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	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_counts	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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_TissueType	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_IGV	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_dbSNPPopFreq	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_germlinemaffrequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification	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
PIK3CD	5293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	9779982	9779982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtccttctgcaggacTgccccattgcctgggccaac	5	9	10	17	0	1	0	0	0	1	0	2	1	2	1	6	2	4	1	6	2	1	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr1:9779982T>C	ENST00000377346.4	+	10	1441	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R	PIK3CD_ENST00000543390.1_Missense_Mutation_p.C83R|PIK3CD_ENST00000361110.2_Missense_Mutation_p.C381R|PIK3CD_ENST00000536656.1_Missense_Mutation_p.C381R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	416	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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)	TCTGCAGGACTGCCCCATTGC	0.647																																					p.C416R													.	.			0			c.T1246C												133	120	124					1																	9779982		2203	4300	6503	SO:0001583	missense	5293	exon10			CAGGACTGCCCCA		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.1246T>C	1.37:g.9779982T>C	ENSP00000366563:p.Cys416Arg		155	0	0		149	0.22	33	NM_005026	149	0.29	43	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569189	0.45798	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.74906	0.3778	L	0.45581	1.43	0.80722	D	1	P;D;D	0.76494	0.907;0.999;0.983	P;D;P	0.70487	0.664;0.969;0.88	T	0.71856	-0.4466	10	0.25751	T	0.34	-40.0069	15.123	0.72460	0.0:0.0:0.0:1.0	.	416;381;416	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	R	381;416;381;381;83	ENSP00000446444:C381R;ENSP00000366563:C416R;ENSP00000354410:C381R;ENSP00000443811:C83R	ENSP00000353766:C381R	C	+	1	0	PIK3CD	9702569	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.179000	0.71974	1.975000	0.57531	0.379000	0.24179	TGC			0.647	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004235.1		NM_005026		C	9779982	T	C	9779982	3	2	1	1	0	0	0	0	1	0	0	0	11932	1580	55	4	1276	4	PIK3CD	1	9779982	Missense_Mutation	SNP	T	TCGA-2G-AAEW-01A-11D-A42Y-10		9779982	239470639	1	1											
PTPRF	5792	mdanderson.org	37	chr1	44057118	44057118	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggggctcctcacgaccgtGggcagcctgctgcctggcat	4	7	15	15	3	1	0	1	0	0	0	2	1	2	0	4	4	3	4	4	4	0	0			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr1:44057118G>T	ENST00000359947.4	+	9	1765	c.1425G>T	c.(1423-1425)gtG>gtT	p.V475V	PTPRF_ENST00000372413.3_Silent_p.V475V|PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Silent_p.V475V|PTPRF_ENST00000438120.1_Silent_p.V475V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	475	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCACGACCGTGGGCAGCCTGC	0.692																																					p.V475V													.	.			0			c.G1425T												10	11	11					1																	44057118		2186	4278	6464	SO:0001819	synonymous_variant	5792	exon9			GACCGTGGGCAGC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1425G>T	1.37:g.44057118G>T			28	0	0		24	0.08	2	NM_002840	116	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.10|10.10	1.256585|1.256585	0.22965|0.22965	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568|ENST00000429895	.|.	.|.	.|.	5.62|5.62	3.7|3.7	0.42460|0.42460	.|.	.|.	.|.	.|.	.|.	T|T	0.54319|0.54319	0.1851|0.1851	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48885|0.48885	-0.8995|-0.8995	4|4	.|.	.|.	.|.	.|.	5.6254|5.6254	0.17480|0.17480	0.0665:0.1248:0.5499:0.2588|0.0665:0.1248:0.5499:0.2588	.|.	.|.	.|.	.|.	W|L	143|132	.|.	.|.	G|W	+|+	1|2	0|0	PTPRF|PTPRF	43829705|43829705	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.880000|0.880000	0.50808|0.50808	1.473000|1.473000	0.35387|0.35387	0.820000|0.820000	0.34516|0.34516	0.563000|0.563000	0.77884|0.77884	GGG|TGG			0.692	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000019710.1				T	44057118	G	T	44057118	2	4	1	1	0	0	0	0	0	0	0	1	12824	1335	47	3		3	PTPRF	1	44057118	Silent	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	34277136	44057118	205193503	2	2											
ARHGAP30	257106	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	161018593	161018595	+	In_Frame_Del	DEL	CTC	CTC	-																															cttctcatctgtatactcatCtcctcctggttcctccacac																										TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	CTC	CTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr1:161018593_161018595delCTC	ENST00000368013.3	-	12	2536_2538	c.2216_2218delGAG	c.(2215-2220)ggagat>gat	p.G739del	ARHGAP30_ENST00000368015.1_In_Frame_Del_p.G562del|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	739	Glu-rich.				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)			GTATACTCATCTCCTCCTGGTTC	0.493																																					p.739_740del													.	ARHGAP30	105		0			c.2217_2219del																																									SO:0001651	inframe_deletion	257106	exon12			ACTCATCTCCTCC	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.2216_2218delGAG	1.37:g.161018596_161018598delCTC	ENSP00000356992:p.Gly739del		202	0	0		285	0.23	65	NM_001025598	106	0	0	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	In_Frame_Del	DEL	ENST00000368013.3	37	CCDS30918.1																																																																																					0.493	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077090.2		NM_181720		-	161018595	CTC	-	161018593	7	5	1	1	0	1	0	1	0	0	0	0	879	913	32	0	1091	0	ARHGAP30	1	161018593	In_Frame_Del	DEL	CTC	TCGA-2G-AAEW-01A-11D-A42Y-10	116961475	161018593	88232028	3	3											
TTC13	79573	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	231075188	231075188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatagcatagctataggctGgtttttgttcagttctaagg	9	16	11	5	0	2	0	1	0	1	0	2	0	2	0	0	3	2	7	0	3	6	10			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr1:231075188G>T	ENST00000366661.4	-	8	851	c.844C>A	c.(844-846)Cag>Aag	p.Q282K	TTC13_ENST00000366662.4_Missense_Mutation_p.Q229K|TTC13_ENST00000414259.1_Missense_Mutation_p.Q229K	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	282										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GCTATAGGCTGGTTTTTGTTC	0.388																																					p.Q282K													.	.			0			c.C844A												95	90	91					1																	231075188		2203	4300	6503	SO:0001583	missense	79573	exon8			TAGGCTGGTTTTT		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.844C>A	1.37:g.231075188G>T	ENSP00000355621:p.Gln282Lys		55	0	0		55	0.13	7	NM_024525	1	0	0	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997684	0.93227	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.59502	0.26;1.21;1.21	5.14	5.14	0.70334	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.999;0.963;0.996;0.999	D;D;D;D	0.91635	0.999;0.973;0.974;0.997	T	0.70761	-0.4784	10	0.30854	T	0.27	-21.4356	18.598	0.91236	0.0:0.0:1.0:0.0	.	207;229;229;282	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	K	282;229;229	ENSP00000355621:Q282K;ENSP00000355622:Q229K;ENSP00000416631:Q229K	ENSP00000355621:Q282K	Q	-	1	0	TTC13	229141811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.391000	0.81399	0.591000	0.81541	CAG			0.388	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092229.2		NM_024525		T	231075188	G	T	231075188	3	4	1	1	0	0	0	0	1	0	0	0	16704	1357	47	3	1802	3	TTC13	1	231075188	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	70056595	231075188	18175433	4	4											
COBLL1	22837	broad.mit.edu	37	chr2	165586537	165586537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaaatttaatgtggttctGttcagctgacaacagatcga	12	14	8	7	1	2	2	1	1	1	1	3	3	2	2	0	1	2	3	0	1	4	5			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr2:165586537G>T	ENST00000392717.2	-	4	437	c.433C>A	c.(433-435)Cag>Aag	p.Q145K	COBLL1_ENST00000375458.2_Missense_Mutation_p.Q107K|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q107K|COBLL1_ENST00000194871.6_Missense_Mutation_p.Q160K|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q145K|COBLL1_ENST00000491126.2_Intron			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	145						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATGTGGTTCTGTTCAGCTGAC	0.353																																					p.Q107K													.	COBLL1	122		0			c.C319A												164	149	154					2																	165586537		2203	4300	6503	SO:0001583	missense	22837	exon3			GGTTCTGTTCAGC	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.433C>A	2.37:g.165586537G>T	ENSP00000376478:p.Gln145Lys		129	0	0		130	0.02	3	NM_014900	14	0	0	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.815|2.815	-0.246123|-0.246123	0.05906|0.05906	.|.	.|.	ENSG00000082438|ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871;ENST00000456693;ENST00000448708;ENST00000439313;ENST00000444537;ENST00000414843|ENST00000452626	D;D;D;D;D;D;D;D;D;D|.	0.91843|.	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92|.	5.69|5.69	2.0|2.0	0.26442|0.26442	Cordon-bleu domain (1);|.	0.728809|.	0.14642|.	N|.	0.307126|.	T|T	0.16214|0.16214	0.0390|0.0390	N|N	0.08118|0.08118	0|0	0.22435|0.22435	N|N	0.999104|0.999104	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.06405|.	0.002;0.002;0.001|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|5	0.08381|.	T|.	0.77|.	-0.3727|-0.3727	5.4844|5.4844	0.16741|0.16741	0.0:0.1469:0.2966:0.5565|0.0:0.1469:0.2966:0.5565	.|.	145;160;145|.	Q53SF7;B7Z2P5;Q53SF7-2|.	COBL1_HUMAN;.;.|.	K|K	107;107;145;145;160;82;107;114;129;107|109	ENSP00000364607:Q107K;ENSP00000341360:Q107K;ENSP00000387326:Q145K;ENSP00000376478:Q145K;ENSP00000194871:Q160K;ENSP00000397520:Q82K;ENSP00000406062:Q107K;ENSP00000397835:Q114K;ENSP00000409237:Q129K;ENSP00000387967:Q107K|.	ENSP00000194871:Q160K|.	Q|T	-|-	1|2	0|0	COBLL1|COBLL1	165294783|165294783	1.000000|1.000000	0.71417|0.71417	0.775000|0.775000	0.31657|0.31657	0.878000|0.878000	0.50629|0.50629	3.393000|3.393000	0.52544|0.52544	0.106000|0.106000	0.17784|0.17784	-0.271000|-0.271000	0.10264|0.10264	CAG|ACA			0.353	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_014900		T	165586537	G	T	165586537	3	4	1	1	0	0	0	0	1	0	0	0	3656	1386	48	3	3229	3	COBLL1	2	165586537	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10		165586537	77612836	5	5											
GMPPA	29926	mdanderson.org	37	chr2	220370469	220370469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacccgaccgccaaggtgGccccctcggctgtggtgagc	5	6	13	17	3	0	1	0	1	0	0	2	2	1	1	6	4	1	1	6	4	1	0			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr2:220370469G>T	ENST00000358215.3	+	10	1255	c.886G>T	c.(886-888)Gcc>Tcc	p.A296S	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.A349S|GMPPA_ENST00000373908.1_Missense_Mutation_p.A296S|GMPPA_ENST00000341142.3_Missense_Mutation_p.A296S|GMPPA_ENST00000313597.5_Missense_Mutation_p.A296S	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	296					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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CGCCAAGGTGGCCCCCTCGGC	0.627																																					p.A296S													.	.			0			c.G886T												48	54	52					2																	220370469		2203	4300	6503	SO:0001583	missense	29926	exon10			AAGGTGGCCCCCT	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.886G>T	2.37:g.220370469G>T	ENSP00000350949:p.Ala296Ser		46	0	0		46	0.07	3	NM_205847	124	0	0	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	g	16.87	3.242550	0.58995	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	4.77	4.77	0.60923	Hexapeptide transferase, conserved site (1);	0.057639	0.64402	D	0.000003	T	0.68229	0.2978	N	0.16903	0.455	0.34854	D	0.74198	B;B	0.32862	0.195;0.387	B;B	0.39771	0.122;0.309	T	0.71076	-0.4697	10	0.17832	T	0.49	5.19	17.4151	0.87497	0.0:0.0:1.0:0.0	.	349;296	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	S	296;349;296;296;296	ENSP00000315925:A296S;ENSP00000363027:A349S;ENSP00000350949:A296S;ENSP00000363016:A296S;ENSP00000340760:A296S	ENSP00000315925:A296S	A	+	1	0	GMPPA	220078713	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.102000	0.71486	2.183000	0.69458	0.558000	0.71614	GCC			0.627	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130230.1		NM_013335		T	220370469	G	T	220370469	3	4	1	1	0	0	0	0	1	0	0	0	6508	1203	42	2	920	2	GMPPA	2	220370469	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	54783932	220370469	22828904	6	6											
VGLL4	9686	mdanderson.org	37	chr3	11606281	11606281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccacctgctgccgcTcccccggggtcagtgtgggc	4	6	15	16	2	1	1	1	0	0	1	2	1	2	1	5	4	2	2	5	4	0	0			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr3:11606281T>C	ENST00000413604.1	-	3	660	c.290A>G	c.(289-291)gAg>gGg	p.E97G	VGLL4_ENST00000451674.2_Missense_Mutation_p.E76G|VGLL4_ENST00000404339.1_Missense_Mutation_p.E161G|VGLL4_ENST00000273038.3_Missense_Mutation_p.E156G|VGLL4_ENST00000430365.2_Missense_Mutation_p.E162G|VGLL4_ENST00000424529.2_Missense_Mutation_p.E72G			Q14135	VGLL4_HUMAN	vestigial-like family member 4	156					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)		CTGCTGCCGCTCCCCCGGGGT	0.721																																					p.E162G													.	.			0			c.A485G												7	7	7					3																	11606281		2123	4197	6320	SO:0001583	missense	9686	exon3			TGCCGCTCCCCCG	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	ENST00000413604.1:c.290A>G	3.37:g.11606281T>C	ENSP00000404624:p.Glu97Gly		20	0	0		26	0.12	3	NM_001128219	40	0	0	B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000413604.1	37		.	.	.	.	.	.	.	.	.	.	T	26.1	4.708633	0.89018	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339;ENST00000445411;ENST00000418000;ENST00000458499;ENST00000417206	T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.64997	1.995	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	0.91635	0.999;0.995;0.995;0.995;0.996	T	0.68667	-0.5348	10	0.59425	D	0.04	-36.6273	15.0706	0.72034	0.0:0.0:0.0:1.0	.	162;76;72;161;156	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	G	156;97;76;72;162;161;156;156;152;156	ENSP00000273038:E156G;ENSP00000404624:E97G;ENSP00000416615:E76G;ENSP00000402878:E72G;ENSP00000404251:E162G;ENSP00000384705:E161G;ENSP00000412923:E156G;ENSP00000394439:E156G;ENSP00000394123:E152G;ENSP00000391932:E156G	ENSP00000273038:E156G	E	-	2	0	VGLL4	11581281	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	7.520000	0.81821	1.965000	0.57142	0.533000	0.62120	GAG			0.721	VGLL4-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000339139.2		NM_014667		C	11606281	T	C	11606281	3	2	1	1	0	0	0	0	1	0	0	0	17185	1551	54	4	417	4	VGLL4	3	11606281	Missense_Mutation	SNP	T	TCGA-2G-AAEW-01A-11D-A42Y-10		11606281	186416149	7	7											
CCDC14	64770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	123665686	123665686	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccttgagctctcccaacaAatattttataattctaactt	12	15	4	10	0	2	1	0	1	2	0	3	1	2	1	2	1	3	1	2	1	6	8			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr3:123665686A>T	ENST00000488653.2	-	8	1399	c.1309T>A	c.(1309-1311)Ttg>Atg	p.L437M	CCDC14_ENST00000433542.2_Missense_Mutation_p.L396M|CCDC14_ENST00000485727.1_Missense_Mutation_p.L237M|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000310351.4_Missense_Mutation_p.L277M|CCDC14_ENST00000489746.1_Missense_Mutation_p.L237M			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	437					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TCTCCCAACAAATATTTTATA	0.348																																					p.L396M													.	.			0			c.T1186A												128	137	134					3																	123665686		2203	4300	6503	SO:0001583	missense	64770	exon7			CCAACAAATATTT	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1309T>A	3.37:g.123665686A>T	ENSP00000420180:p.Leu437Met		252	0	0		294	0.17	51	NM_022757	117	0.24	28	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37		.	.	.	.	.	.	.	.	.	.	A	19.34	3.808310	0.70797	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000426152	T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.55	4.4	0.53042	.	0.159136	0.27214	N	0.020398	T	0.72211	0.3432	M	0.68593	2.085	0.40172	D	0.977194	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.71870	0.975;0.975;0.964	T	0.72571	-0.4253	10	0.51188	T	0.08	.	6.4079	0.21674	0.7522:0.0:0.2478:0.0	.	437;396;237	Q49A88;Q49A88-6;Q49A88-4	CCD14_HUMAN;.;.	M	437;277;237;237;396;418;163	ENSP00000420180:L437M;ENSP00000312031:L277M;ENSP00000418002:L237M;ENSP00000418403:L237M;ENSP00000395706:L396M;ENSP00000386866:L418M;ENSP00000414655:L163M	ENSP00000312031:L277M	L	-	1	2	CCDC14	125148376	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.284000	0.43478	1.129000	0.42072	0.482000	0.46254	TTG			0.348	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_022757		T	123665686	A	T	123665686	3	4	1	1	0	0	0	0	1	0	0	0	2775	11	1	5	1576	5	CCDC14	3	123665686	Missense_Mutation	SNP	A	TCGA-2G-AAEW-01A-11D-A42Y-10	112059405	123665686	74356744	8	8											
EHHADH	1962	broad.mit.edu	37	chr3	184971758	184971758	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcgcgttgaccggcgggTttcggaggcggattagcgcc	5	9	17	10	7	0	2	0	2	0	0	2	4	0	4	2	5	1	2	2	5	1	3			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr3:184971758T>G	ENST00000231887.3	-	1	128	c.53A>C	c.(52-54)aAc>aCc	p.N18T	hsa-mir-5588_ENST00000581890.1_RNA|EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000440662.1_Missense_Mutation_p.N18T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	18	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GACCGGCGGGTTTCGGAGGCG	0.662																																					p.N18T													.	EHHADH	73		0			c.A53C												42	44	43					3																	184971758		2203	4300	6503	SO:0001583	missense	1962	exon1			GGCGGGTTTCGGA	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.53A>C	3.37:g.184971758T>G	ENSP00000231887:p.Asn18Thr		141	0.2056737589	29		150	0.2	30	NM_001966	24	0.04	1	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.841591	0.91197	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000440662	T;T	0.72615	-0.67;-0.67	4.85	4.85	0.62838	Crotonase, core (1);	0.314464	0.41938	D	0.000793	T	0.77498	0.4139	M	0.78344	2.41	0.48901	D	0.999724	P	0.48503	0.911	P	0.51918	0.684	T	0.80111	-0.1519	10	0.59425	D	0.04	-21.8435	11.0027	0.47616	0.0:0.0:0.0:1.0	.	18	Q08426	ECHP_HUMAN	T	18	ENSP00000231887:N18T;ENSP00000396798:N18T	ENSP00000231887:N18T	N	-	2	0	EHHADH	186454452	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.525000	0.53502	2.160000	0.67779	0.528000	0.53228	AAC			0.662	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345326.1				G	184971758	T	G	184971758	3	3	1	1	0	0	0	0	1	0	0	0	4987	1725	60	4	2146	4	EHHADH	3	184971758	Missense_Mutation	SNP	T	TCGA-2G-AAEW-01A-11D-A42Y-10	61306072	184971758	13050672	9	9											
PTPN13	5783	mdanderson.org	37	chr4	87707089	87707089	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgagtattttactgaGgtaacaataatacctaaaca	16	13	5	7	0	0	2	0	2	0	0	0	2	0	2	2	1	5	2	2	1	9	8			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr4:87707089G>T	ENST00000411767.2	+	40	6408	c.6345G>T	c.(6343-6345)gaG>gaT	p.E2115D	PTPN13_ENST00000427191.2_Splice_Site_p.E2096D|PTPN13_ENST00000316707.6_Splice_Site_p.E1924D|PTPN13_ENST00000511467.1_Splice_Site_p.E2120D|PTPN13_ENST00000436978.1_Splice_Site_p.E2120D			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2115					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)		ATTTTACTGAGGTAACAATAA	0.368																																					p.E2120D													.	.			0			c.G6360T												51	46	47					4																	87707089		1856	4090	5946	SO:0001630	splice_region_variant	5783	exon40			TACTGAGGTAACA		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.6345+1G>T	4.37:g.87707089G>T			48	0	0		44	0.07	3	NM_080685	44	0	0	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340366	0.41498	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.55930	0.49;0.52;0.61;0.49;0.52	5.04	4.15	0.48705	.	0.000000	0.47455	D	0.000238	T	0.68063	0.2960	M	0.73962	2.25	0.42295	D	0.99215	B;D;D;D	0.89917	0.04;1.0;1.0;1.0	B;D;D;D	0.87578	0.026;0.998;0.996;0.998	T	0.68029	-0.5517	10	0.44086	T	0.13	.	8.717	0.34416	0.0901:0.1503:0.7596:0.0	.	1924;2096;2115;2120	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	D	2096;2120;1924;2115;2120;2064	ENSP00000408368:E2096D;ENSP00000394794:E2120D;ENSP00000322675:E1924D;ENSP00000407249:E2115D;ENSP00000426626:E2120D	ENSP00000322675:E1924D	E	+	3	2	PTPN13	87926113	1.000000	0.71417	0.956000	0.39512	0.056000	0.15407	1.314000	0.33597	1.150000	0.42419	0.460000	0.39030	GAG			0.368	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000363191.1			Missense_Mutation	T	87707089	G	T	87707089	5	4	1	1	0	0	0	0	0	0	1	0	12803	1014	35	3	6514	3	PTPN13	4	87707089	Splice_Site	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10		87707089	103447187	10	10											
FAM105A	54491	mdanderson.org	37	chr5	14608915	14608915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaagtatgtgcaacacccTtttttcagatgccattctgg	10	13	9	9	0	2	1	1	0	1	1	2	2	2	2	2	2	3	2	2	2	3	5			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr5:14608915T>C	ENST00000274217.3	+	7	806	c.686T>C	c.(685-687)cTt>cCt	p.L229P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	229	OTU.							p.S231fs*13(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328																																					p.L229P													.	.			1	Deletion - Frameshift(1)	large_intestine(1)	c.T686C												77	77	77					5																	14608915		2203	4300	6503	SO:0001583	missense	54491	exon7			ACACCCTTTTTTC		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.686T>C	5.37:g.14608915T>C	ENSP00000274217:p.Leu229Pro		49	0	0		49	0.06	3	NM_019018	47	0	0	Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162069	0.57368	.	.	ENSG00000145569	ENST00000274217	T	0.16597	2.33	4.89	4.89	0.63831	.	0.109676	0.40064	N	0.001185	T	0.41213	0.1149	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.37454	-0.9705	10	0.87932	D	0	-8.3487	14.4858	0.67616	0.0:0.0:0.0:1.0	.	229	Q9NUU6	F105A_HUMAN	P	229	ENSP00000274217:L229P	ENSP00000274217:L229P	L	+	2	0	FAM105A	14661915	0.991000	0.36638	0.996000	0.52242	0.879000	0.50718	4.189000	0.58358	1.819000	0.53055	0.477000	0.44152	CTT			0.328	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253710.1		NM_019018		C	14608915	T	C	14608915	3	2	1	1	0	0	0	0	1	0	0	0	5397	1609	56	4	712	4	FAM105A	5	14608915	Missense_Mutation	SNP	T	TCGA-2G-AAEW-01A-11D-A42Y-10		14608915	166306345	11	11											
PCDHB10	56126	mdanderson.org	37	chr5	140573922	140573922	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggcgactcgggccagaaCgcctggctgtcgtaccagct	7	6	14	14	5	0	1	0	0	0	1	2	3	0	1	3	3	3	3	3	3	2	1	rs376773467		TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr5:140573922C>T	ENST00000239446.4	+	1	1981	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	599	Cadherin 6. {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)			CGGGCCAGAACGCCTGGCTGT	0.721																																					p.N599N													.	.			0			c.C1797T												4	6	5					5																	140573922		1101	2431	3532	SO:0001819	synonymous_variant	56126	exon1			CCAGAACGCCTGG	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.1797C>T	5.37:g.140573922C>T			19	0	0		23	0.13	3	NM_018930	0		0	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																					0.721	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251821.1		NM_018930		T	140573922	C	T	140573922	2	4	1	1	0	0	0	0	0	0	0	1	11552	535	19	1		1	PCDHB10	5	140573922	Silent	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10	125965007	140573922	40341338	12	12											
SYNPO	11346	mdanderson.org	37	chr5	150028987	150028987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatccatgtttactttcGtggagaagcccaaggtgacc	11	10	10	10	1	0	2	0	1	0	1	2	3	1	2	3	2	2	2	3	2	4	3			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr5:150028987G>T	ENST00000394243.1	+	3	2256	c.1882G>T	c.(1882-1884)Gtg>Ttg	p.V628L	SYNPO_ENST00000519664.1_Missense_Mutation_p.V384L|SYNPO_ENST00000307662.4_Missense_Mutation_p.V384L|SYNPO_ENST00000522122.1_Missense_Mutation_p.V628L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	628					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)			GTTTACTTTCGTGGAGAAGCC	0.612																																					p.V628L													.	.			0			c.G1882T												40	46	44					5																	150028987		2203	4300	6503	SO:0001583	missense	11346	exon3			ACTTTCGTGGAGA	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	ENST00000394243.1:c.1882G>T	5.37:g.150028987G>T	ENSP00000377789:p.Val628Leu		77	0	0		58	0.05	3	NM_001166208	33	0	0	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969705	0.53614	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.9	4.9	0.64082	.	0.000000	0.48767	D	0.000174	T	0.65133	0.2662	L	0.46157	1.445	0.32532	N	0.534791	P;P	0.42993	0.648;0.797	B;P	0.46479	0.107;0.518	T	0.68819	-0.5308	10	0.23302	T	0.38	-19.7627	7.5967	0.28052	0.0849:0.0:0.75:0.1652	.	384;628	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	L	628;628;384;384	ENSP00000377789:V628L;ENSP00000428378:V628L;ENSP00000302139:V384L;ENSP00000429268:V384L	ENSP00000302139:V384L	V	+	1	0	SYNPO	150009180	0.999000	0.42202	0.999000	0.59377	0.985000	0.73830	3.198000	0.51035	2.269000	0.75478	0.561000	0.74099	GTG			0.612	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252371.1		NM_007286		T	150028987	G	T	150028987	3	4	1	1	0	0	0	0	1	0	0	0	15479	1145	40	1	1888	1	SYNPO	5	150028987	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	9455065	150028987	30886273	13	13											
DCDC2	51473	broad.mit.edu	37	chr6	24301981	24301981	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagtgattttttctgtGaccatttgtagtacatgatc	9	17	8	7	0	2	4	1	3	1	1	3	4	2	4	1	0	1	2	1	0	2	6			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr6:24301981G>T	ENST00000378454.3	-	4	820	c.519C>A	c.(517-519)gtC>gtA	p.V173V		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	173	Doublecortin 2. {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)				TTTTTTCTGTGACCATTTGTA	0.428																																					p.V173V													.	DCDC2	53		0			c.C519A												172	167	169					6																	24301981		2203	4300	6503	SO:0001819	synonymous_variant	51473	exon5			TTCTGTGACCATT	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.519C>A	6.37:g.24301981G>T			197	0	0		171	0.02	4	NM_001195610	4	0	0	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	ENST00000378454.3	37	CCDS4550.1																																																																																					0.428	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043604.1		NM_016356		T	24301981	G	T	24301981	2	4	1	1	0	0	0	0	0	0	0	1	4287	1277	45	3		3	DCDC2	6	24301981	Silent	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10		24301981	146813086	14	14											
BAT3	7917	broad.mit.edu;mdanderson.org	37	chr6	31612829	31612829	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggacctggcgggggAgccccctcagctgaggactc	6	5	17	13	1	1	1	1	1	0	0	2	5	1	5	3	6	3	2	3	6	0	0			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr6:31612829A>G	ENST00000375964.6	-	10	1594	c.1281T>C	c.(1279-1281)gcT>gcC	p.A427A	BAG6_ENST00000362049.6_Silent_p.A421A|BAG6_ENST00000439687.2_Silent_p.A421A|BAG6_ENST00000375976.4_Silent_p.A421A|BAG6_ENST00000211379.5_Silent_p.A421A|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Silent_p.A421A	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	427	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGGCGGGGGAGCCCCCTCAG	0.652																																					p.A427A													.	BAG6	73		0			c.T1281C												65	82	76					6																	31612829		1507	2707	4214	SO:0001819	synonymous_variant	7917	exon10			CGGGGGAGCCCCC	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1281T>C	6.37:g.31612829A>G			58	0.1034482759	6		48	0.13	6	NM_004639	476	0.23	110	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274367	0.23307	.	.	ENSG00000204463	ENST00000453833	.	.	.	4.98	-2.44	0.06502	.	.	.	.	.	T	0.20941	0.0504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35574	-0.9783	4	.	.	.	.	0.4792	0.00545	0.2441:0.1461:0.2853:0.3245	.	.	.	.	P	82	.	.	S	-	1	0	BAG6	31720808	0.001000	0.12720	0.178000	0.23040	0.821000	0.46438	-1.151000	0.03175	-0.421000	0.07416	0.525000	0.51046	TCC			0.652	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_080703		G	31612829	A	G	31612829	2	3	1	1	0	0	0	0	0	0	0	1	1322	291	11	4		4	BAT3	6	31612829	Silent	SNP	A	TCGA-2G-AAEW-01A-11D-A42Y-10	7310848	31612829	139502238	15	15											
GPR115	221393	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	47678504	47678504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttgtatttcttcttccaActgcagccagccctgtgcta	7	14	6	14	0	2	0	0	0	2	0	3	0	3	0	4	0	5	3	4	0	3	6			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr6:47678504A>G	ENST00000283303.2	+	4	440	c.182A>G	c.(181-183)aAc>aGc	p.N61S	GPR115_ENST00000327753.3_Missense_Mutation_p.N61S|GPR115_ENST00000371220.1_Missense_Mutation_p.N118S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	61					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCTTCTTCCAACTGCAGCCAG	0.388																																					p.N61S	GBM(22;431 510 9010 26644 32828)												.	.			0			c.A182G												86	91	89					6																	47678504		2203	4300	6503	SO:0001583	missense	221393	exon4			CTTCCAACTGCAG	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.182A>G	6.37:g.47678504A>G	ENSP00000283303:p.Asn61Ser		184	0	0		193	0.11	22	NM_153838	0		0	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	A	6.524	0.464824	0.12402	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.32023	1.69;1.47;1.47	5.71	-1.55	0.08558	.	0.697062	0.14476	N	0.317274	T	0.04407	0.0121	L	0.36672	1.1	0.09310	N	0.99999	B	0.09022	0.002	B	0.10450	0.005	T	0.38200	-0.9672	10	0.07813	T	0.8	-2.3821	1.0661	0.01611	0.3858:0.2993:0.17:0.1449	.	61	Q8IZF3	GP115_HUMAN	S	118;61;61	ENSP00000360264:N118S;ENSP00000328319:N61S;ENSP00000283303:N61S	ENSP00000283303:N61S	N	+	2	0	GPR115	47786463	0.339000	0.24784	0.855000	0.33649	0.745000	0.42441	0.597000	0.24059	-0.078000	0.12730	-0.336000	0.08194	AAC			0.388	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040819.2		NM_153838		G	47678504	A	G	47678504	3	3	1	1	0	0	0	0	1	0	0	0	6646	43	2	4	192	4	GPR115	6	47678504	Missense_Mutation	SNP	A	TCGA-2G-AAEW-01A-11D-A42Y-10	16065675	47678504	123436563	16	16											
MCM7	4176	mdanderson.org	37	chr7	99697366	99697366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccacctgttcccgatgaGccagccgaacctcaagtggg	9	6	12	14	2	1	1	1	1	0	0	2	4	2	1	6	1	4	1	6	1	2	1			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr7:99697366G>T	ENST00000303887.5	-	3	767	c.122C>A	c.(121-123)gCt>gAt	p.A41D	AP4M1_ENST00000421755.1_5'Flank|AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|AP4M1_ENST00000422582.1_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.A41D|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	41					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|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)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|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)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCCCGATGAGCCAGCCGAAC	0.532																																					p.A41D													.	.			0			c.C122A												75	69	71					7																	99697366		2203	4300	6503	SO:0001583	missense	4176	exon3			CGATGAGCCAGCC		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.122C>A	7.37:g.99697366G>T	ENSP00000307288:p.Ala41Asp		45	0	0		53	0.06	3	NM_005916	1290	0	0	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178774	0.78564	.	.	ENSG00000166508	ENST00000343023;ENST00000303887	T;T	0.14022	2.54;2.54	4.4	4.4	0.53042	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58584	-0.7611	10	0.59425	D	0.04	-0.5901	14.5272	0.67897	0.0:0.0:1.0:0.0	.	41	P33993	MCM7_HUMAN	D	41	ENSP00000344006:A41D;ENSP00000307288:A41D	ENSP00000307288:A41D	A	-	2	0	MCM7	99535302	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	9.013000	0.93629	2.255000	0.74692	0.557000	0.71058	GCT			0.532	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336534.3				T	99697366	G	T	99697366	3	4	1	1	0	0	0	0	1	0	0	0	9408	971	34	2	2089	2	MCM7	7	99697366	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10		99697366	59441297	17	17											
LRCH4	4034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	100173407	100173407	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcactgagttttggcTggggtgggtgaaagaagaaa	11	9	18	3	0	0	5	0	3	0	2	0	5	0	5	0	5	0	3	0	5	3	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr7:100173407T>C	ENST00000310300.6	-	17	1829		c.e17-2		LRCH4_ENST00000497245.1_Splice_Site|SAP25_ENST00000538735.1_5'Flank	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4						nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGTTTTGGCTGGGGTGGGTG	0.577																																					.													.	.			0			c.1777-2A>G												109	115	113					7																	100173407		2203	4300	6503	SO:0001630	splice_region_variant	4034	exon18			TTTGGCTGGGGTG	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1777-2A>G	7.37:g.100173407T>C			156	0	0		171	0.15	26	NM_002319	2	0	0	A4D2D5|Q8WV85|Q96ID0	Splice_Site	SNP	ENST00000310300.6	37	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369351	0.61624	.	.	ENSG00000077454	ENST00000485554;ENST00000310300;ENST00000422462;ENST00000497245	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2403	0.43308	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRCH4	100011343	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	6.695000	0.74593	1.994000	0.58287	0.454000	0.30748	.			0.577	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356110.1		NM_002319	Intron	C	100173407	T	C	100173407	5	2	1	1	0	0	0	0	0	0	1	0	8951	1594	55	4	284	4	LRCH4	7	100173407	Splice_Site	SNP	T	TCGA-2G-AAEW-01A-11D-A42Y-10	476041	100173407	58965256	18	18											
SLC24A2	25769	broad.mit.edu	37	chr9	19786692	19786692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtatctgtctcagaaaagGcactgattgaaaatgagaca	15	10	10	6	0	2	4	1	3	2	2	3	5	2	4	0	1	0	2	0	1	5	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr9:19786692G>T	ENST00000341998.2	-	1	234	c.173C>A	c.(172-174)gCc>gAc	p.A58D	SLC24A2_ENST00000286344.3_Missense_Mutation_p.A58D	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	58					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTCAGAAAAGGCACTGATTGA	0.423																																					p.A58D													SLC24A2,NS,carcinoma,-1,1	SLC24A2	93	1	0			c.C173A												103	104	104					9																	19786692		2203	4300	6503	SO:0001583	missense	25769	exon1			GAAAAGGCACTGA	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.173C>A	9.37:g.19786692G>T	ENSP00000344801:p.Ala58Asp		118	0	0		140	0.03	4	NM_001193288	0		0	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714676	0.68730	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.78481	-1.17;-1.18	5.7	4.8	0.61643	.	0.239692	0.41823	D	0.000818	T	0.78110	0.4232	L	0.49126	1.545	0.80722	D	1	P;P	0.45634	0.565;0.863	P;P	0.48400	0.576;0.451	T	0.76782	-0.2832	9	.	.	.	.	14.5437	0.68013	0.0702:0.0:0.9298:0.0	.	58;58	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	D	58	ENSP00000344801:A58D;ENSP00000286344:A58D	.	A	-	2	0	SLC24A2	19776692	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.138000	0.77305	1.408000	0.46895	0.655000	0.94253	GCC			0.423	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051866.2		NM_020344		T	19786692	G	T	19786692	3	4	1	1	0	0	0	0	1	0	0	0	14489	1203	42	2	1852	2	SLC24A2	9	19786692	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10		19786692	121426739	19	19											
KRTAP5-4	387267	hgsc.bcm.edu	37	chr11	1643254	1643254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacagccagagccacAgcccccacagccggagccac	10	0	9	22	1	0	1	0	0	0	1	0	2	0	2	8	1	5	0	8	1	0	0			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr11:1643254A>G	ENST00000399682.1	-	1	114	c.70T>C	c.(70-72)Tgt>Cgt	p.C24R		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccagagccacagcccccacag	0.687																																					p.C24R													KRTAP5-4,NS,carcinoma,+2,6	KRTAP5-4	2	6	0			c.T70C												4	8	7					11																	1643254		641	1519	2160	SO:0001583	missense	387267	exon1			AGCCACAGCCCCC	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.70T>C	11.37:g.1643254A>G	ENSP00000382590:p.Cys24Arg		103	0.0097087379	1		134	0.07	9	NM_001012709	0		0		Missense_Mutation	SNP	ENST00000399682.1	37		.	.	.	.	.	.	.	.	.	.	A	7.309	0.614523	0.14129	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01099	5.34	2.15	2.15	0.27550	.	.	.	.	.	T	0.06234	0.0161	M	0.87971	2.92	0.49389	D	0.999781	D	0.59357	0.985	D	0.70487	0.969	T	0.05273	-1.0895	9	0.56958	D	0.05	.	8.2253	0.31564	1.0:0.0:0.0:0.0	.	24	Q6L8H1	KRA54_HUMAN	R	24	ENSP00000382590:C24R	ENSP00000331603:C24R	C	-	1	0	KRTAP5-4	1599830	0.001000	0.12720	0.930000	0.37139	0.032000	0.12392	-0.060000	0.11712	1.242000	0.43836	0.367000	0.22151	TGT			0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000127918.1		NM_001012709		G	1643254	A	G	1643254	3	3	1	1	0	0	0	0	1	0	0	0	8578	188	7	4	620	4	KRTAP5-4	11	1643254	Missense_Mutation	SNP	A	TCGA-2G-AAEW-01A-11D-A42Y-10		1643254	133363262	20	20											
ABTB2	25841	mdanderson.org	37	chr11	34184247	34184247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctcgctgccactgccctgGctcgacgcatcactttcctc	4	10	7	20	3	1	0	1	0	0	0	5	1	2	0	4	1	2	3	4	1	0	1			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr11:34184247G>A	ENST00000435224.2	-	10	2518	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	ABTB2_ENST00000298992.2_Silent_p.S512S	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	698					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CACTGCCCTGGCTCGACGCAT	0.657																																					p.S698S													.	.			0			c.C2094T												71	58	63					11																	34184247		2202	4298	6500	SO:0001819	synonymous_variant	25841	exon10			GCCCTGGCTCGAC	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2094C>T	11.37:g.34184247G>A			41	0	0		45	0.07	3	NM_145804	9	0	0	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	CCDS7890.2																																																																																					0.657	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388703.3		NM_145804		A	34184247	G	A	34184247	2	1	1	1	0	0	0	0	0	0	0	1	103	1194	42	2		2	ABTB2	11	34184247	Silent	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	32540993	34184247	100822269	21	21											
OR4A16	81327	hgsc.bcm.edu	37	chr11	55110715	55110715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacagaatttgtcctcctGggcctcactcaagatcctga	9	12	8	12	0	2	3	2	1	0	2	5	3	5	3	4	1	1	1	4	1	3	2	rs77981146	byFrequency	TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr11:55110715G>A	ENST00000314721.2	+	1	89	c.39G>A	c.(37-39)ctG>ctA	p.L13L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13L(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCCTCCTGGGCCTCACTC	0.388																																					p.L13L													OR4A16,NS,lymphoid_neoplasm,0,1	OR4A16	0	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.G39A												57	51	53					11																	55110715		2201	4296	6497	SO:0001819	synonymous_variant	81327	exon1			CCTCCTGGGCCTC	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.39G>A	11.37:g.55110715G>A			45	0	0		35	0.11	4	NM_001005274	0		0	Q6IFL3	Silent	SNP	ENST00000314721.2	37	CCDS31499.1																																																																																			0.006		0.388	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391160.1		NM_001005274		A	55110715	G	A	55110715	2	1	1	1	0	0	0	0	0	0	0	1	11058	1335	47	3		3	OR4A16	11	55110715	Silent	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	20926468	55110715	79895801	22	22			1	1		2	2	25	G		4.186399e-05
OR4A16	81327	hgsc.bcm.edu	37	chr11	55110739	55110739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcactcaagatcctgatgtGaaaaaaacattatttgtcat	15	13	5	8	0	3	3	3	2	0	1	4	3	4	3	1	0	1	0	1	0	5	2	rs368036675|rs78513473	byFrequency	TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr11:55110739G>A	ENST00000314721.2	+	1	113	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACAT	0.413																																					p.V21V													OR4A16,NS,carcinoma,0,1	OR4A16	0	1	1	Substitution - coding silent(1)	lung(1)	c.G63A												74	68	70					11																	55110739		2201	4296	6497	SO:0001819	synonymous_variant	81327	exon1			TGATGTGAAAAAA	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.63G>A	11.37:g.55110739G>A			44	0	0		52	0.1	5	NM_001005274	0		0	Q6IFL3	Silent	SNP	ENST00000314721.2	37	CCDS31499.1																																																																																			0.002		0.413	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391160.1		NM_001005274		A	55110739	G	A	55110739	2	1	1	1	0	0	0	0	0	0	0	1	11058	1277	45	3		3	OR4A16	11	55110739	Silent	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	24	55110739	79895777	23	23			1	1		2	2	25	G		4.186399e-05
FOLR2	2350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	71932007	71932007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacaactttaactgggacCactgcggcaagatggagccc	11	8	11	11	1	0	1	0	0	0	1	0	3	0	3	2	3	5	2	2	3	4	3			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr11:71932007C>G	ENST00000298223.6	+	3	431	c.244C>G	c.(244-246)Cac>Gac	p.H82D	FOLR2_ENST00000454954.2_Missense_Mutation_p.H41D|FOLR2_ENST00000449475.2_Missense_Mutation_p.H99D	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	82					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	TAACTGGGACCACTGCGGCAA	0.607																																					p.H82D													.	.			0			c.C244G												42	43	43					11																	71932007		2200	4293	6493	SO:0001583	missense	2350	exon3			TGGGACCACTGCG	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.244C>G	11.37:g.71932007C>G	ENSP00000298223:p.His82Asp		88	0	0		96	0.15	14	NM_001113535	49	0	0	Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.367915	0.61513	.	.	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000413873;ENST00000454954;ENST00000541003;ENST00000539412;ENST00000536778;ENST00000535625;ENST00000321324;ENST00000538353	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.52	4.52	0.55395	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	M	0.93328	3.405	0.58432	D	0.999996	D	0.76494	0.999	D	0.78314	0.991	D	0.93249	0.6633	10	0.87932	D	0	.	15.9916	0.80208	0.0:1.0:0.0:0.0	.	82	P14207	FOLR2_HUMAN	D	99;82;99;41;128;93;97;82;95;82	ENSP00000405638:H99D;ENSP00000298223:H82D;ENSP00000414094:H41D;ENSP00000443307:H128D;ENSP00000441547:H93D;ENSP00000438568:H97D;ENSP00000444794:H82D;ENSP00000321957:H95D;ENSP00000440337:H82D	ENSP00000298223:H82D	H	+	1	0	FOLR2	71609655	1.000000	0.71417	0.926000	0.36857	0.342000	0.28953	5.862000	0.69560	2.335000	0.79485	0.455000	0.32223	CAC			0.607	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317923.2		NM_000803		G	71932007	C	G	71932007	3	3	1	1	0	0	0	0	1	0	0	0	5995	594	21	5	250	5	FOLR2	11	71932007	Missense_Mutation	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10	16821268	71932007	63074509	24	24											
ARHGEF17	9828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	73070882	73070882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctctccctctaggggCatcccaagccaccaatcggg	7	9	8	17	1	2	0	0	0	2	0	7	0	5	0	5	3	1	1	5	3	3	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr11:73070882C>T	ENST00000263674.3	+	10	4441	c.4091C>T	c.(4090-4092)gCa>gTa	p.A1364V	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1364					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCTCTAGGGGCATCCCAAGCC	0.587																																					p.A1364V													.	.			0			c.C4091T												78	71	74					11																	73070882		2200	4293	6493	SO:0001583	missense	9828	exon10			TAGGGGCATCCCA	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4091C>T	11.37:g.73070882C>T	ENSP00000263674:p.Ala1364Val		115	0	0		107	0.22	24	NM_014786	38	0.13	5	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957419	0.73902	.	.	ENSG00000110237	ENST00000263674	T	0.58652	0.32	5.33	4.42	0.53409	.	0.174016	0.51477	N	0.000085	T	0.50086	0.1595	L	0.43152	1.355	0.40742	D	0.982845	B	0.14012	0.009	B	0.09377	0.004	T	0.50800	-0.8785	10	0.62326	D	0.03	-4.0109	13.2367	0.59972	0.0:0.9233:0.0:0.0767	.	1364	Q96PE2	ARHGH_HUMAN	V	1364	ENSP00000263674:A1364V	ENSP00000263674:A1364V	A	+	2	0	ARHGEF17	72748530	1.000000	0.71417	0.967000	0.41034	0.452000	0.32318	7.277000	0.78572	1.256000	0.44068	-0.291000	0.09656	GCA			0.587	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397365.1		NM_014786		T	73070882	C	T	73070882	3	4	1	1	0	0	0	0	1	0	0	0	900	710	25	2	4129	2	ARHGEF17	11	73070882	Missense_Mutation	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10	1138875	73070882	61935634	25	25											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_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)																											p.G12V	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,NS,adenocarcinoma,0,25136	KRAS_ENST00000256078	0	25136	15813	Substitution - Missense(15812)|Deletion - Frameshift(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)	c.G35T												91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	exon2	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	ACGCCACCAGCTC	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		152	0	0		228	0.22	51	NM_004985	49	0.43	21	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	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		A	25398284	C	A	25398284	3	1	1	1	0	0	0	0	1	0	0	0	8453	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10		25398284	108453611	26	26											
MRPL42	28977	mdanderson.org	37	chr12	93881369	93881369	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttgaacaccttgaggaaGgacctatgatagaacaactt	16	9	9	7	0	0	4	0	3	0	1	0	6	0	6	2	2	3	1	2	2	7	5			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr12:93881369G>T	ENST00000549982.1	+	5	477	c.316G>T	c.(316-318)Gga>Tga	p.G106*	MRPL42_ENST00000552217.1_Nonsense_Mutation_p.G106*|MRPL42_ENST00000393128.4_Nonsense_Mutation_p.G106*|MRPL42_ENST00000547098.1_Nonsense_Mutation_p.G106*|MRPL42_ENST00000548545.1_Nonsense_Mutation_p.G106*|MRPL42_ENST00000361630.2_Nonsense_Mutation_p.G106*	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	106					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						CCTTGAGGAAGGACCTATGAT	0.398																																					p.G106X													.	.			0			c.G316T												145	131	136					12																	93881369		2203	4300	6503	SO:0001587	stop_gained	28977	exon5			GAGGAAGGACCTA	AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"Mitochondrial ribosomal proteins / large subunits", "Mitochondrial ribosomal proteins / small subunits"	14493	protein-coding gene	gene with protein product	"mitochondrial ribosomal protein S32"	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.316G>T	12.37:g.93881369G>T	ENSP00000449884:p.Gly106*		38	0	0		50	0.06	3	NM_014050	534	0	0	Q6FID1|Q96Q48|Q9P0S1	Nonsense_Mutation	SNP	ENST00000549982.1	37	CCDS9045.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758894	0.49468	.	.	ENSG00000198015	ENST00000549982;ENST00000361630;ENST00000552217;ENST00000393128	.	.	.	4.84	4.84	0.62591	.	0.068786	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-15.503	11.4691	0.50257	0.0846:0.0:0.9154:0.0	.	.	.	.	X	106	.	ENSP00000355202:G106X	G	+	1	0	MRPL42	92405500	1.000000	0.71417	0.988000	0.46212	0.204000	0.24138	8.230000	0.89793	2.391000	0.81399	0.591000	0.81541	GGA			0.398	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000407715.1		NM_014050		T	93881369	G	T	93881369	4	4	1	1	0	0	0	0	0	1	0	0	9822	1001	35	3	354	3	MRPL42	12	93881369	Nonsense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	68483085	93881369	39970526	27	27											
BTBD11	121551	broad.mit.edu	37	chr12	108010914	108010914	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctcagtggagcatggcGaggagaactactcggaaaca	14	5	14	8	2	1	1	1	0	0	1	2	5	1	3	0	5	4	2	0	5	4	1	rs147351765		TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr12:108010914G>T	ENST00000280758.5	+	8	2578	c.2050G>T	c.(2050-2052)Gag>Tag	p.E684*	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.E684*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.E221*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.E684*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	684						integral component of membrane (GO:0016021)		p.E684K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGAGCATGGCGAGGAGAACTA	0.607																																					p.E684X													BTBD11,scalp,malignant_melanoma,0,3	BTBD11	122	3	2	Substitution - Missense(2)	endometrium(1)|skin(1)	c.G2050T												139	116	124					12																	108010914		2203	4300	6503	SO:0001587	stop_gained	121551	exon8			CATGGCGAGGAGA	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2050G>T	12.37:g.108010914G>T	ENSP00000280758:p.Glu684*		79	0	0		78	0.04	3	NM_001018072	5	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	40	7.942044	0.98574	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	.	.	.	5.27	5.27	0.74061	.	0.249509	0.47455	D	0.000233	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.8886	0.92389	0.0:0.0:1.0:0.0	.	.	.	.	X	684;684;684;221	.	ENSP00000280758:E684X	E	+	1	0	BTBD11	106535044	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	5.294000	0.65687	2.454000	0.82982	0.655000	0.94253	GAG			0.607	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318003.1		NM_152322		T	108010914	G	T	108010914	4	4	1	1	0	0	0	0	0	1	0	0	1541	1059	37	1	2185	1	BTBD11	12	108010914	Nonsense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	14129545	108010914	25840981	28	28											
MYO16	23026	hgsc.bcm.edu	37	chr13	109318410	109318410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaggaagggttcctgaaaAggctgaagcatgcgaagaat	15	6	14	6	1	0	3	0	2	0	1	1	5	1	4	1	3	3	4	1	3	6	1			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr13:109318410A>G	ENST00000357550.2	+	1	180	c.139A>G	c.(139-141)Agg>Ggg	p.R47G	MYO16_ENST00000356711.2_Missense_Mutation_p.R47G|MYO16_ENST00000251041.5_Missense_Mutation_p.R47G	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTTCCTGAAAAGGCTGAAGCA	0.493																																					p.R69G													MYO16,NS,carcinoma,-2,1	MYO16	-2	1	0			c.A205G												79	70	73					13																	109318410		2203	4300	6503	SO:0001583	missense	23026	exon2			CTGAAAAGGCTGA		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.139A>G	13.37:g.109318410A>G	ENSP00000350160:p.Arg47Gly		78	0	0		65	0.05	3	NM_001198950	1	0	0		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	6.554	0.470542	0.12461	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.81330	-1.48;-1.48;-1.22	5.37	2.8	0.32819	.	0.218757	0.21502	U	0.073501	T	0.63850	0.2546	N	0.24115	0.695	0.09310	N	0.999997	B;P	0.35433	0.145;0.501	B;B	0.27608	0.079;0.081	T	0.48328	-0.9045	9	.	.	.	.	11.3838	0.49773	0.7111:0.2889:0.0:0.0	.	47;47	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	G	47	ENSP00000349145:R47G;ENSP00000350160:R47G;ENSP00000251041:R47G	.	R	+	1	2	MYO16	108116411	0.850000	0.29656	0.004000	0.12327	0.019000	0.09904	3.869000	0.56062	0.294000	0.22547	-0.323000	0.08544	AGG			0.493	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045746.1		NM_015011		G	109318410	A	G	109318410	3	3	1	1	0	0	0	0	1	0	0	0	10080	63	3	4	141	4	MYO16	13	109318410	Missense_Mutation	SNP	A	TCGA-2G-AAEW-01A-11D-A42Y-10		109318410	5851468	29	29											
ZFP36L1	677	mdanderson.org	37	chr14	69257094	69257094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggtggaacttggagctgGgcagggtgactgagtgcctc	6	10	17	8	0	1	2	0	2	1	0	2	4	1	4	1	5	3	2	1	5	1	1			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr14:69257094G>T	ENST00000439696.2	-	2	474	c.173C>A	c.(172-174)cCc>cAc	p.P58H	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P58H	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	58					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTGGAGCTGGGCAGGGTGAC	0.647											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P127H													.	.			0			c.C380A												20	20	20					14																	69257094		2203	4300	6503	SO:0001583	missense	677	exon3			GAGCTGGGCAGGG	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.173C>A	14.37:g.69257094G>T	ENSP00000388402:p.Pro58His		31	0	0	1113	35	0.09	3	NM_001244701	138	0	0	Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	g	16.16	3.045871	0.55110	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022;ENST00000553375	T;T	0.31510	1.49;1.49	4.64	3.74	0.42951	Tis11B-like protein, N-terminal (1);	0.082034	0.47455	U	0.000225	T	0.25382	0.0617	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.21708	0.036	T	0.07328	-1.0778	10	0.62326	D	0.03	-0.4924	13.9828	0.64315	0.0:0.0:0.8473:0.1527	.	58	Q07352	TISB_HUMAN	H	58;58;58;64;36;127	ENSP00000388402:P58H;ENSP00000337386:P58H	ENSP00000337386:P58H	P	-	2	0	ZFP36L1	68326847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.572000	0.82409	1.168000	0.42723	0.574000	0.79327	CCC			0.647	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413227.1				T	69257094	G	T	69257094	3	4	1	1	0	0	0	0	1	0	0	0	17669	1232	43	3	847	3	ZFP36L1	14	69257094	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10		69257094	38092446	30	30											
BATF	10538	mdanderson.org	37	chr14	75991478	75991478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggagaaaaatcgtattGccgcccagaagagccgacag	14	4	14	9	3	0	3	0	0	0	3	1	6	0	4	3	2	2	1	3	2	4	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr14:75991478G>T	ENST00000286639.6	+	2	373	c.115G>T	c.(115-117)Gcc>Tcc	p.A39S	BATF_ENST00000555504.1_Missense_Mutation_p.A39S|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	39	Basic motif. {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)		AAATCGTATTGCCGCCCAGAA	0.527																																					p.A39S													.	.			0			c.G115T												90	76	81					14																	75991478		2203	4300	6503	SO:0001583	missense	10538	exon2			CGTATTGCCGCCC	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.115G>T	14.37:g.75991478G>T	ENSP00000286639:p.Ala39Ser		48	0	0		52	0.06	3	NM_006399	88	0	0		Missense_Mutation	SNP	ENST00000286639.6	37	CCDS9843.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498469	0.96355	.	.	ENSG00000156127	ENST00000286639;ENST00000555504	T	0.62941	-0.01	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	M	0.92268	3.29	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.87839	0.2650	10	0.87932	D	0	-4.8307	19.8677	0.96824	0.0:0.0:1.0:0.0	.	39	Q16520	BATF_HUMAN	S	39	ENSP00000286639:A39S	ENSP00000286639:A39S	A	+	1	0	BATF	75061231	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	9.251000	0.95483	2.709000	0.92574	0.655000	0.94253	GCC			0.527	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413669.1		NM_006399		T	75991478	G	T	75991478	3	4	1	1	0	0	0	0	1	0	0	0	1325	1319	46	2	121	2	BATF	14	75991478	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	6734384	75991478	31358062	31	31											
SLC12A6	9990	mdanderson.org	37	chr15	34544565	34544565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcttgatgaaagggtgCggttacccagcatgcagacc	9	10	13	9	1	1	3	0	2	1	1	1	3	1	3	2	2	4	3	2	2	2	2	rs375887656	byFrequency	TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr15:34544565C>T	ENST00000354181.3	-	10	1631	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	SLC12A6_ENST00000560611.1_Missense_Mutation_p.R380H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R329H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R321H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R371H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R380H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R192H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R365H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R321H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R192H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	380					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)	TGAAAGGGTGCGGTTACCCAG	0.383													C|||	2	0.000399361	0	0	5008	,	,		19893	0.002		0	False		,,,				2504	0				p.R380H													SLC12A6_ENST00000558589,bladder,carcinoma,0,6	SLC12A6_ENST00000558589	0	6	0			c.G1139A												121	113	115					15																	34544565		2201	4298	6499	SO:0001583	missense	9990	exon9			AGGGTGCGGTTAC	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.1139G>A	15.37:g.34544565C>T	ENSP00000346112:p.Arg380His		91	0	0		125	0.04	5	NM_133647	95	0	0	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868646	0.91587	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.55	5.55	0.83447	.	0.148153	0.41605	D	0.000841	T	0.71384	0.3333	M	0.68952	2.095	0.80722	D	1	P;P;P;P	0.50943	0.653;0.534;0.94;0.864	B;B;P;B	0.47015	0.147;0.187;0.534;0.426	T	0.71451	-0.4589	10	0.40728	T	0.16	.	18.4277	0.90614	0.0:1.0:0.0:0.0	.	365;380;329;192	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	329;365;371;321;321;192	ENSP00000290209:R329H;ENSP00000380819:R365H;ENSP00000380814:R321H;ENSP00000387725:R321H;ENSP00000390199:R192H	ENSP00000290209:R329H	R	-	2	0	SLC12A6	32331857	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.651000	0.83577	2.890000	0.99128	0.585000	0.79938	CGC			0.383	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000417991.1		NM_005135		T	34544565	C	T	34544565	3	4	1	1	0	0	0	0	1	0	0	0	14410	768	27	1	2381	1	SLC12A6	15	34544565	Missense_Mutation	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10		34544565	67986827	32	32											
FAM98B	283742	broad.mit.edu	37	chr15	38776809	38776809	+	IGR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatccatatggaggaggTggtggtggtggtggtggtgg	6	10	23	2	0	0	1	0	0	0	1	1	4	1	3	1	11	0	0	1	11	1	1	rs201831942|rs374461368		TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr15:38776809T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G417G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		ATGGAGGAggtggtggtggtg	0.473																																					p.G417G													.	FAM98B	53		0			c.T1251A							T		2,3092		0,2,1545	25	24	25		1251	-6.5	0.3	15		25	0,6894		0,0,3447	no	coding-synonymous	FAM98B	NM_173611.2		0,2,4992	AA,AT,TT		0.0,0.0646,0.02		417/434	38776809	2,9986	1547	3447	4994	SO:0001628	intergenic_variant	283742	exon8			AGGAGGTGGTGGT		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776809T>A			93	0.0107526882	1		94	0.05	5	NM_173611	1	0	0	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																					0.473	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252071.2		NM_173611		A	38776809	T	A	38776809	1	1	1	0	1	0	0	0	0	0	0	0	5670	1683	59	5		5	FAM98B	15	38776809	IGR	SNP	T	TCGA-2G-AAEW-01A-11D-A42Y-10	4232244	38776809	63754583	33	33											
TLE3	7090	mdanderson.org	37	chr15	70346959	70346959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgagcgtgctggcctcGccgcccacgatgagcgtgcg	5	7	16	13	6	0	2	0	2	0	0	1	3	0	2	3	2	4	1	3	2	0	0	rs367926967		TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr15:70346959G>A	ENST00000558939.1	-	16	3030	c.1653C>T	c.(1651-1653)ggC>ggT	p.G551G	TLE3_ENST00000317509.8_Silent_p.G539G|TLE3_ENST00000558201.1_Silent_p.G557G|TLE3_ENST00000559929.1_Silent_p.G561G|TLE3_ENST00000560589.1_Silent_p.G495G|TLE3_ENST00000557907.1_Silent_p.G543G|TLE3_ENST00000451782.2_Silent_p.G548G|TLE3_ENST00000539550.1_Silent_p.G478G|TLE3_ENST00000557997.1_Silent_p.G543G|TLE3_ENST00000440567.3_Silent_p.G541G|TLE3_ENST00000560939.1_Silent_p.G553G|TLE3_ENST00000558379.1_Silent_p.G546G|TLE3_ENST00000559191.1_Silent_p.G132G|TLE3_ENST00000559048.1_Silent_p.G551G|TLE3_ENST00000442299.2_Silent_p.G543G	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	551					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCTGGCCTCGCCGCCCACGA	0.657																																					p.G551G													.	.			0			c.C1653T							G	,,	3,4327		0,3,2162	21	25	24		1644,1653,1617	-8.2	0.8	15		24	0,8538		0,0,4269	no	coding-synonymous,coding-synonymous,coding-synonymous	TLE3	NM_001105192.1,NM_005078.2,NM_020908.1	,,	0,3,6431	AA,AG,GG		0.0,0.0693,0.0233	,,	548/770,551/773,539/761	70346959	3,12865	2165	4269	6434	SO:0001819	synonymous_variant	7090	exon16			GGCCTCGCCGCCC	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1653C>T	15.37:g.70346959G>A			56	0	0		45	0.07	3	NM_005078	170	0	0	B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	CCDS45293.1																																																																																					0.657	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000416913.1		NM_005078		A	70346959	G	A	70346959	2	1	1	1	0	0	0	0	0	0	0	1	15963	1074	38	1		1	TLE3	15	70346959	Silent	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	31570150	70346959	32184433	34	34											
CREBBP	1387	mdanderson.org	37	chr16	3820600	3820600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggctgggcgtgcacagGcgtcggctgttgctgcgatg	5	8	19	9	4	0	0	0	0	0	0	1	2	0	1	0	5	3	5	0	5	0	1			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr16:3820600G>T	ENST00000262367.5	-	14	3660	c.2851C>A	c.(2851-2853)Cct>Act	p.P951T	CREBBP_ENST00000382070.3_Missense_Mutation_p.P913T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	951					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)		GCGTGCACAGGCGTCGGCTGT	0.582			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.P951T				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.			0			c.C2851A												116	143	134					16																	3820600		2197	4300	6497	SO:0001583	missense	1387	exon14			GCACAGGCGTCGG	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.2851C>A	16.37:g.3820600G>T	ENSP00000262367:p.Pro951Thr		45	0	0		51	0.06	3	NM_004380	144	0	0	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	6.957	0.546380	0.13312	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84298	-1.83;-1.74	5.87	3.68	0.42216	.	0.148339	0.47852	D	0.000207	T	0.73877	0.3643	N	0.20986	0.625	0.40528	D	0.980906	B;B	0.15141	0.012;0.012	B;B	0.18561	0.022;0.022	T	0.68614	-0.5362	10	0.62326	D	0.03	-4.3227	7.3429	0.26648	0.3749:0.0:0.6251:0.0	.	981;951	Q4LE28;Q92793	.;CBP_HUMAN	T	951;981;913	ENSP00000262367:P951T;ENSP00000371502:P913T	ENSP00000262367:P951T	P	-	1	0	CREBBP	3760601	0.998000	0.40836	0.288000	0.24862	0.200000	0.23975	4.672000	0.61597	0.880000	0.35969	0.655000	0.94253	CCT			0.582	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251591.2		NM_004380		T	3820600	G	T	3820600	3	4	1	1	0	0	0	0	1	0	0	0	3863	1203	42	2	4549	2	CREBBP	16	3820600	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10		3820600	86534153	35	35											
SOCS1	8651	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	11348860	11348860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggcccccagcatgcggCgcggcgccgccacgtagtgc	4	3	17	17	7	0	0	0	0	0	0	0	0	0	0	4	4	3	2	4	4	1	1			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr16:11348860C>A	ENST00000332029.2	-	2	626	c.476G>T	c.(475-477)cGc>cTc	p.R159L	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	159	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.F144fs*34(1)|p.Y64fs*1(1)|p.R127_*212del(1)|p.0?(1)|p.P158_M161del(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CAGCATGCGGCGCGGCGCCGC	0.726			"F, O"		"Hodgkin Lymphoma, PMBL"																																p.R159L	Colon(177;456 3548 27231)			Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	.	.			5	Deletion - In frame(2)|Deletion - Frameshift(2)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(5)	c.G476T												6	8	7					16																	11348860		2129	4213	6342	SO:0001583	missense	8651	exon2			ATGCGGCGCGGCG	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.476G>T	16.37:g.11348860C>A	ENSP00000329418:p.Arg159Leu		10	0	0		31	0.16	5	NM_003745	42	0.1	4	O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299528	0.60195	.	.	ENSG00000185338	ENST00000332029	T	0.24350	1.86	4.06	4.06	0.47325	SH2 motif (3);	0.260244	0.36374	U	0.002622	T	0.16769	0.0403	N	0.24115	0.695	0.42374	D	0.992461	P	0.40398	0.716	B	0.39660	0.306	T	0.03130	-1.1069	10	0.34782	T	0.22	-24.0711	9.2493	0.37545	0.0:0.9004:0.0:0.0996	.	159	O15524	SOCS1_HUMAN	L	159	ENSP00000329418:R159L	ENSP00000329418:R159L	R	-	2	0	SOCS1	11256361	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.533000	0.36040	2.106000	0.64143	0.462000	0.41574	CGC			0.726	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252018.1				A	11348860	C	A	11348860	3	1	1	1	0	0	0	0	1	0	0	0	14936	768	27	1	163	1	SOCS1	16	11348860	Missense_Mutation	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10	7528260	11348860	79005893	36	36											
ADAD2	161931	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	84227812	84227812	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatggagtcacgcatccctGctgtggaggagttgggtgag	9	9	16	7	1	1	1	1	1	0	0	2	4	2	4	1	4	1	3	1	4	1	1			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr16:84227812G>A	ENST00000315906.5	+	2	470				ADAD2_ENST00000268624.3_Missense_Mutation_p.A207T|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2						RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						acgcatccctgctgtggagga	0.602																																					p.A207T													.	.			0			c.G619A												43	35	38					16																	84227812		2192	4287	6479	SO:0001627	intron_variant	161931	exon2			ATCCCTGCTGTGG	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.419-236G>A	16.37:g.84227812G>A			73	0	0		78	0.15	12	NM_139174	0		0	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.448|7.448	0.642005|0.642005	0.14451|0.14451	.|.	.|.	ENSG00000140955|ENSG00000250685	ENST00000268624|ENST00000536986	T|.	0.18960|.	2.18|.	3.27|3.27	-6.32|-6.32	0.01995|0.01995	.|.	5.342360|.	0.00654|.	N|.	0.000576|.	T|.	0.16642|.	0.0400|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.37337|.	-0.9710|.	10|.	0.21540|0.87932	T|D	0.41|0	.|.	5.5514|5.5514	0.17093|0.17093	0.2904:0.0:0.5714:0.1382|0.2904:0.0:0.5714:0.1382	.|.	207|.	Q8NCV1-2|.	.|.	T|X	207|143	ENSP00000268624:A207T|.	ENSP00000268624:A207T|ENSP00000444170:Q143X	A|Q	+|-	1|1	0|0	ADAD2|AC009123.1	82785313|82785313	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.317000|-0.317000	0.08060|0.08060	-1.351000|-1.351000	0.02197|0.02197	-0.300000|-0.300000	0.09419|0.09419	GCT|CAG			0.602	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433385.1		NM_139174		A	84227812	G	A	84227812	1	1	1	0	1	0	0	0	0	0	0	0	232	1319	46	2		2	ADAD2	16	84227812	Intron	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	72878952	84227812	6126941	37	37											
KLHL11	55175	broad.mit.edu	37	chr17	40010660	40010660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctcgaagaatctttggtgCcgattccaagttgtgccatt	9	14	9	9	2	2	1	0	0	2	1	4	3	3	1	3	1	2	1	3	1	3	4			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr17:40010660C>T	ENST00000319121.3	-	2	1519	c.1459G>A	c.(1459-1461)Gca>Aca	p.A487T	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	487										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ATCTTTGGTGCCGATTCCAAG	0.448																																					p.A487T													KLHL11,colon,carcinoma,+2,1	KLHL11	44	1	0			c.G1459A												93	85	88					17																	40010660		2203	4300	6503	SO:0001583	missense	55175	exon2			TTGGTGCCGATTC		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1459G>A	17.37:g.40010660C>T	ENSP00000314608:p.Ala487Thr		125	0	0		164	0.02	4	NM_018143	44	0	0		Missense_Mutation	SNP	ENST00000319121.3	37	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565742	0.65651	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.66638	-0.22	5.26	5.26	0.73747	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	L	0.28274	0.84	0.80722	D	1	B	0.34264	0.446	B	0.36989	0.238	T	0.64778	-0.6327	10	0.87932	D	0	.	19.2191	0.93789	0.0:1.0:0.0:0.0	.	487	Q9NVR0	KLH11_HUMAN	T	487;350	ENSP00000314608:A487T	ENSP00000314608:A487T	A	-	1	0	KLHL11	37264186	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	7.353000	0.79414	2.606000	0.88127	0.585000	0.79938	GCA			0.448	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257464.2		NM_018143		T	40010660	C	T	40010660	3	4	1	1	0	0	0	0	1	0	0	0	8382	739	26	2	671	2	KLHL11	17	40010660	Missense_Mutation	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10		40010660	41184550	38	38											
TMUB2	79089	broad.mit.edu	37	chr17	42266738	42266738	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggctggagctgggggTggtgttgagcccagccttga	5	8	21	7	0	0	2	0	2	0	0	0	4	0	4	2	7	3	3	2	7	0	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr17:42266738T>G	ENST00000587989.1	+	3	537	c.384T>G	c.(382-384)ggT>ggG	p.G128G	TMUB2_ENST00000589856.1_Silent_p.G108G|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000357984.3_Silent_p.G108G|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000538716.2_Silent_p.G128G|TMUB2_ENST00000446571.3_Intron|TMUB2_ENST00000319511.6_Silent_p.G108G|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589785.1_Silent_p.G108G			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	128						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAGCTGGGGGTGGTGTTGAGC	0.602																																					p.G128G													.	TMUB2	29		0			c.T384G												53	57	56					17																	42266738		2203	4300	6503	SO:0001819	synonymous_variant	79089	exon3			TGGGGGTGGTGTT		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.384T>G	17.37:g.42266738T>G			51	0.1960784314	10		56	0.23	13	NM_001076674	75	0.01	1	B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	CCDS54134.1																																																																																					0.602	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457711.1		NM_177441		G	42266738	T	G	42266738	2	3	1	1	0	0	0	0	0	0	0	1	16288	1683	59	4		4	TMUB2	17	42266738	Silent	SNP	T	TCGA-2G-AAEW-01A-11D-A42Y-10	2256078	42266738	38928472	39	39											
LLGL2	3993	mdanderson.org	37	chr17	73564574	73564574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctttgacgacccctatGccctggtggtgctggctgag	5	10	13	13	1	0	2	0	2	0	0	0	3	0	2	4	3	3	2	4	3	1	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr17:73564574G>T	ENST00000392550.3	+	11	1171	c.1054G>T	c.(1054-1056)Gcc>Tcc	p.A352S	LLGL2_ENST00000577200.1_Missense_Mutation_p.A352S|LLGL2_ENST00000167462.5_Missense_Mutation_p.A352S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	352					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGACCCCTATGCCCTGGTGGT	0.642																																					p.A352S													.	.			0			c.G1054T												44	37	40					17																	73564574		2203	4300	6503	SO:0001583	missense	3993	exon11			CCCTATGCCCTGG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1054G>T	17.37:g.73564574G>T	ENSP00000376333:p.Ala352Ser		41	0	0		50	0.06	3	NM_004524	74	0	0	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468108	0.43839	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.11495	2.77;2.77	5.33	5.33	0.75918	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	M	0.75777	2.31	0.58432	D	0.999998	D;D;B;B	0.54601	0.967;0.959;0.23;0.272	P;P;B;B	0.56865	0.808;0.709;0.255;0.283	T	0.01488	-1.1342	10	0.49607	T	0.09	-34.7102	19.014	0.92886	0.0:0.0:1.0:0.0	.	341;341;352;352	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;L2GL2_HUMAN	S	352;352;341	ENSP00000167462:A352S;ENSP00000376333:A352S	ENSP00000167462:A352S	A	+	1	0	LLGL2	71076169	1.000000	0.71417	0.974000	0.42286	0.535000	0.34838	7.964000	0.87933	2.475000	0.83589	0.561000	0.74099	GCC			0.642	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000447633.1		NM_004524		T	73564574	G	T	73564574	3	4	1	1	0	0	0	0	1	0	0	0	8849	1319	46	2	1127	2	LLGL2	17	73564574	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	31297836	73564574	7630636	40	40											
TBCD	6904	broad.mit.edu	37	chr17	80851439	80851439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagggcactttccctcatgGtattgatattttgaccacag	9	15	8	9	0	1	2	1	2	0	0	2	2	2	2	2	2	0	2	2	2	3	7			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr17:80851439G>T	ENST00000355528.4	+	17	1710	c.1580G>T	c.(1579-1581)gGt>gTt	p.G527V	TBCD_ENST00000397466.2_Missense_Mutation_p.G141V|TBCD_ENST00000539345.2_Missense_Mutation_p.G527V	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	527					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTCCCTCATGGTATTGATATT	0.363																																					p.G527V													.	TBCD	94		0			c.G1580T												121	104	109					17																	80851439		1862	4098	5960	SO:0001583	missense	6904	exon17			CTCATGGTATTGA	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1580G>T	17.37:g.80851439G>T	ENSP00000347719:p.Gly527Val		376	0.0026595745	1		338	0.02	8	NM_005993	490	0	0	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206870	0.39003	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.56611	0.45;0.45	4.64	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.88739	0.3242	9	.	.	.	.	16.4639	0.84072	0.0:0.0:1.0:0.0	.	527;527;527	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	V	527;278;141;527	ENSP00000347719:G527V;ENSP00000380608:G141V	.	G	+	2	0	TBCD	78444728	1.000000	0.71417	0.982000	0.44146	0.035000	0.12851	7.427000	0.80284	2.106000	0.64143	0.514000	0.50259	GGT			0.363	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439415.1		NM_005993		T	80851439	G	T	80851439	3	4	1	1	0	0	0	0	1	0	0	0	15656	1261	44	3	1646	3	TBCD	17	80851439	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	7286865	80851439	343771	41	41											
FAM108A1	81926	hgsc.bcm.edu	37	chr19	1881263	1881263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgcagcgaacatacatGcaggagacgcggttgccgcg	10	4	15	12	6	0	1	0	0	0	1	0	3	0	1	1	3	5	4	1	3	2	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000250974.9_Silent_p.C101C|ABHD17A_ENST00000590661.1_Silent_p.C101C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	101						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.C101C(3)									GAACATACATGCAGGAGACGC	0.662																																					p.C101C													FAM108A1,NS,carcinoma,0,2	FAM108A1	0	2	3	Substitution - coding silent(3)	lung(2)|endometrium(1)	c.C303T												35	39	38					19																	1881263		2202	4299	6501	SO:0001819	synonymous_variant	81926	exon2			ATACATGCAGGAG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.303C>T	19.37:g.1881263G>A			50	0	0		57	0.05	3	NM_031213	296	0	0	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																					0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415556.2		NM_031213		A	1881263	G	A	1881263	2	1	1	1	0	0	0	0	0	0	0	1	5401	1311	46	2		2	FAM108A1	19	1881263	Silent	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10		1881263	57247720	42	42											
FAM108A1	81926	broad.mit.edu;mdanderson.org	37	chr19	1881347	1881347	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtactggaagtcggcAcgctccgtcaggtgcagctt	6	10	14	11	3	1	0	1	0	0	0	3	1	2	1	1	4	3	6	1	4	2	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr19:1881347A>G	ENST00000292577.7	-	2	652	c.219T>C	c.(217-219)cgT>cgC	p.R73R	ABHD17A_ENST00000250974.9_Silent_p.R73R|ABHD17A_ENST00000590661.1_Silent_p.R73R	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	73						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGAAGTCGGCACGCTCCGTCA	0.716																																					p.R73R													FAM108A1,NS,carcinoma,0,1	FAM108A1	29	1	0			c.T219C												19	22	21					19																	1881347		2188	4262	6450	SO:0001819	synonymous_variant	81926	exon2			GTCGGCACGCTCC	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.219T>C	19.37:g.1881347A>G			20	0	0		21	0.14	3	NM_031213	137	0	0	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																					0.716	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415556.2		NM_031213		G	1881347	A	G	1881347	2	3	1	1	0	0	0	0	0	0	0	1	5401	146	6	4		4	FAM108A1	19	1881347	Silent	SNP	A	TCGA-2G-AAEW-01A-11D-A42Y-10	84	1881347	57247636	43	43											
ZNF799	90576	ucsc.edu	37	chr19	12501855	12501855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaataaaggctttcccacAtttgcatttatagggtttct	11	16	6	8	0	2	0	1	0	1	0	3	0	3	0	1	2	1	3	1	2	5	7	rs201077492|rs79480756		TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr19:12501855A>G	ENST00000430385.3	-	4	1557	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	ZNF799_ENST00000419318.1_Missense_Mutation_p.C421R|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	453					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						GCTTTCCCACATTTGCATTTA	0.388																																					p.C453R													.	ZNF799	111		0			c.T1357C												76	81	79					19																	12501855		2202	4299	6501	SO:0001583	missense	90576	exon4			TCCCACATTTGCA	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.1357T>C	19.37:g.12501855A>G	ENSP00000411084:p.Cys453Arg		140	0.0285714286	4		160	0.03	5	NM_001080821	58	0.16	9		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790257	0.50102	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	D;D	0.85955	-2.05;-2.05	1.31	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.87791	0.6266	H	0.95950	3.745	0.58432	D	0.999998	B	0.02656	0.0	B	0.10450	0.005	D	0.85733	0.1332	9	0.72032	D	0.01	.	6.6913	0.23174	1.0:0.0:0.0:0.0	.	453	Q96GE5	ZN799_HUMAN	R	421;453	ENSP00000415278:C421R;ENSP00000411084:C453R	ENSP00000415278:C421R	C	-	1	0	ZNF799	12362855	0.997000	0.39634	0.001000	0.08648	0.965000	0.64279	5.185000	0.65076	0.846000	0.35142	0.352000	0.21897	TGT			0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344099.2	rescued with RNA-seq	NM_001080821		G	12501855	A	G	12501855	3	3	1	1	0	0	0	0	1	0	0	0	18189	217	8	4	578	4	ZNF799	19	12501855	Missense_Mutation	SNP	A	TCGA-2G-AAEW-01A-11D-A42Y-10	10620508	12501855	46627128	44	44											
RHPN2	85415	hgsc.bcm.edu	37	chr19	33493842	33493842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttgacgagcacgctgagCatggcagggctcatgtcgta	9	10	13	9	3	1	2	1	2	0	0	2	3	1	2	0	2	2	6	0	2	1	3	rs137892450	byFrequency	TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr19:33493842C>A	ENST00000254260.3	-	8	860	c.825G>T	c.(823-825)atG>atT	p.M275I	RHPN2_ENST00000400226.4_Missense_Mutation_p.M124I	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	275	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)					GCACGCTGAGCATGGCAGGGC	0.448																																					p.M275I													RHPN2,NS,neuroblastoma,0,1	RHPN2	0	1	0			c.G825T												54	49	50					19																	33493842		2203	4300	6503	SO:0001583	missense	85415	exon8			GCTGAGCATGGCA	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.825G>T	19.37:g.33493842C>A	ENSP00000254260:p.Met275Ile		43	0.023255814	1		68	0.04	3	NM_033103	11	0	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524256	0.64747	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.16324	2.35;2.35	4.9	4.9	0.64082	BRO1 domain (3);	0.035852	0.85682	D	0.000000	T	0.23370	0.0565	M	0.72576	2.205	0.80722	D	1	P	0.41475	0.751	B	0.36959	0.237	T	0.07158	-1.0787	10	0.44086	T	0.13	-4.5596	18.4946	0.90860	0.0:1.0:0.0:0.0	.	275	Q8IUC4	RHPN2_HUMAN	I	275;5;124	ENSP00000254260:M275I;ENSP00000402244:M124I	ENSP00000254260:M275I	M	-	3	0	RHPN2	38185682	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.752000	0.85141	2.432000	0.82394	0.478000	0.44815	ATG	0		0.448	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450828.2		NM_033103		A	33493842	C	A	33493842	3	1	1	1	0	0	0	0	1	0	0	0	13374	710	25	2	1267	2	RHPN2	19	33493842	Missense_Mutation	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10	20991987	33493842	25635141	45	45											
NUMBL	9253	broad.mit.edu	37	chr19	41173907	41173907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgttgctgttgCtgctgctgctgctgctgggc	0	15	15	11	0	0	0	0	0	0	0	0	0	0	0	0	1	10	12	0	1	0	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr19:41173907C>T	ENST00000252891.4	-	10	1463	c.1296G>A	c.(1294-1296)caG>caA	p.Q432Q	NUMBL_ENST00000598779.1_Silent_p.Q391Q|NUMBL_ENST00000540131.1_Silent_p.Q391Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	432	Poly-Gln.				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)			gttgctgttgctgctgctgct	0.657																																					p.Q432Q													.	NUMBL	49		0			c.G1296A												8	8	8					19																	41173907		2126	4142	6268	SO:0001819	synonymous_variant	9253	exon10			CTGTTGCTGCTGC	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.1296G>A	19.37:g.41173907C>T			41	0	0		55	0.05	3	NM_004756	69	0	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																					0.657	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462749.2		NM_004756		T	41173907	C	T	41173907	2	4	1	1	0	0	0	0	0	0	0	1	10769	796	28	2		2	NUMBL	19	41173907	Silent	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10	7680065	41173907	17955076	46	46											
C19orf41	126123	mdanderson.org	37	chr19	50657888	50657888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccacgaagacaaagacagCcagagacacagaaatgagga	20	1	11	9	1	0	5	0	1	0	4	0	9	0	6	2	1	1	0	2	1	3	0			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr19:50657888C>T	ENST00000293405.3	-	6	592	c.592G>A	c.(592-594)Gct>Act	p.A198T		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	198						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						ACAAAGACAGCCAGAGACACA	0.607																																					p.A198T													.	.			0			c.G592A												134	157	150					19																	50657888		2127	4235	6362	SO:0001583	missense	126123	exon6			AGACAGCCAGAGA	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"-"	28518	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 41"	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.592G>A	19.37:g.50657888C>T	ENSP00000293405:p.Ala198Thr		30	0	0		36	0.08	3	NM_152358	3	0	0	Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.94|14.94	2.684238|2.684238	0.47991|0.47991	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000293405|ENST00000377000	T|.	0.57273|.	0.41|.	3.43|3.43	1.14|1.14	0.20703|0.20703	.|.	.|.	.|.	.|.	.|.	T|.	0.35998|.	0.0951|.	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	P|.	0.52061|.	0.95|.	P|.	0.48921|.	0.595|.	T|.	0.32587|.	-0.9901|.	9|.	0.72032|0.72032	D|D	0.01|0.01	.|.	8.0636|8.0636	0.30648|0.30648	0.4395:0.5605:0.0:0.0|0.4395:0.5605:0.0:0.0	.|.	198|.	Q6UXV1|.	IZUM2_HUMAN|.	T|X	198|162	ENSP00000293405:A198T|.	ENSP00000293405:A198T|ENSP00000366199:W162X	A|W	-|-	1|3	0|0	IZUMO2|IZUMO2	55349700|55349700	0.971000|0.971000	0.33674|0.33674	0.017000|0.017000	0.16124|0.16124	0.079000|0.079000	0.17450|0.17450	1.475000|1.475000	0.35409|0.35409	0.399000|0.399000	0.25367|0.25367	0.305000|0.305000	0.20034|0.20034	GCT|TGG			0.607	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157232.1		NM_152358		T	50657888	C	T	50657888	3	4	1	1	0	0	0	0	1	0	0	0	1926	739	26	2	81	2	C19orf41	19	50657888	Missense_Mutation	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10	9483981	50657888	8471095	47	47											
PIGT	51604	broad.mit.edu	37	chr20	44053178	44053178	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcatggtagcagcCaagccagtggactgggaaga	11	5	15	10	0	0	1	0	0	0	1	0	3	0	3	3	3	5	3	3	3	3	1	rs79813306		TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr20:44053178C>A	ENST00000279036.6	+	11	1523	c.1443C>A	c.(1441-1443)gcC>gcA	p.A481A	PIGT_ENST00000535404.1_Silent_p.A326A|PIGT_ENST00000279035.9_Silent_p.A379A|PIGT_ENST00000341555.5_Silent_p.A287A|PIGT_ENST00000543458.2_Silent_p.A425A|PIGT_ENST00000372689.5_Silent_p.A414A|PIGT_ENST00000545755.1_Silent_p.A219A	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	481					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGGTAGCAGCCAAGCCAGTGG	0.562																																					p.A481A													PIGT,NS,carcinoma,0,1	PIGT	85	1	0			c.C1443A												84	79	80					20																	44053178		2203	4300	6503	SO:0001819	synonymous_variant	51604	exon11			AGCAGCCAAGCCA		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1443C>A	20.37:g.44053178C>A			103	0.0388349515	4		122	0.07	8	NM_015937	371	0.02	6	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	CCDS13353.1																																																																																					0.562	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079434.2		NM_015937		A	44053178	C	A	44053178	2	1	1	1	0	0	0	0	0	0	0	1	11916	581	21	3		3	PIGT	20	44053178	Silent	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10		44053178	18972342	48	48											
NCOA3	8202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	46264898	46264898	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtgtcagtcaaatagcAgagatcacctcagtgacaaa	16	8	8	9	0	4	2	4	1	0	1	4	3	4	2	1	0	1	1	1	0	4	1			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr20:46264898A>C	ENST00000371998.3	+	12	1959	c.1768A>C	c.(1768-1770)Aga>Cga	p.R590R	NCOA3_ENST00000371997.3_Silent_p.R600R|NCOA3_ENST00000341724.6_Silent_p.R600R|NCOA3_ENST00000372004.3_Silent_p.R590R			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	590	Ser-rich.				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						GTCAAATAGCAGAGATCACCT	0.433																																					p.R600R													.	.			0			c.A1798C												64	62	62					20																	46264898		2203	4300	6503	SO:0001819	synonymous_variant	8202	exon12			AATAGCAGAGATC	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.1768A>C	20.37:g.46264898A>C			117	0	0		119	0.15	18	NM_001174088	67	0.22	15	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																					0.433	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080405.1		NM_006534		C	46264898	A	C	46264898	2	2	1	1	0	0	0	0	0	0	0	1	10247	180	7	4		4	NCOA3	20	46264898	Silent	SNP	A	TCGA-2G-AAEW-01A-11D-A42Y-10	2211720	46264898	16760622	49	49											
PCK1	5105	broad.mit.edu;mdanderson.org	37	chr20	56138710	56138710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaacctggccatgatGaaccccagcctccccgggtg	10	5	10	16	1	0	3	0	2	0	1	1	3	1	3	8	2	3	0	8	2	3	0			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr20:56138710G>T	ENST00000319441.4	+	6	1052	c.888G>T	c.(886-888)atG>atT	p.M296I	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.M164I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	296					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGGCCATGATGAACCCCAGCC	0.567																																					p.M296I													.	PCK1	95		0			c.G888T												104	98	100					20																	56138710		2203	4300	6503	SO:0001583	missense	5105	exon6			CATGATGAACCCC		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.888G>T	20.37:g.56138710G>T	ENSP00000319814:p.Met296Ile		71	0	0		65	0.08	5	NM_002591	0		0	A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193736	0.58017	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.03831	3.79;3.79	5.27	5.27	0.74061	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.045081	0.85682	D	0.000000	T	0.11410	0.0278	L	0.61036	1.89	0.58432	D	0.999994	B	0.27416	0.178	B	0.36030	0.216	T	0.04373	-1.0956	10	0.52906	T	0.07	-44.3209	18.8895	0.92392	0.0:0.0:1.0:0.0	.	296	P35558	PCKGC_HUMAN	I	296;164	ENSP00000319814:M296I;ENSP00000444342:M164I	ENSP00000319814:M296I	M	+	3	0	PCK1	55572116	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.780000	0.68956	2.478000	0.83669	0.561000	0.74099	ATG			0.567	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079851.2				T	56138710	G	T	56138710	3	4	1	1	0	0	0	0	1	0	0	0	11598	1290	45	3	906	3	PCK1	20	56138710	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	9873812	56138710	6886810	50	50											
ZNF512B	57473	mdanderson.org	37	chr20	62593699	62593699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcagctgggggttcagcGtggggagccctggtcgagtg	5	8	19	9	2	1	0	1	0	0	0	2	2	1	1	1	5	4	3	1	5	1	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr20:62593699G>A	ENST00000450537.1	-	14	2252	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	ZNF512B_ENST00000369888.1_Missense_Mutation_p.T731M|ZNF512B_ENST00000217130.3_Missense_Mutation_p.T731M			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	731					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)					GGGGTTCAGCGTGGGGAGCCC	0.607																																					p.T731M													.	.			0			c.C2192T												94	86	89					20																	62593699		2203	4300	6503	SO:0001583	missense	57473	exon14			TTCAGCGTGGGGA	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.2192C>T	20.37:g.62593699G>A	ENSP00000393795:p.Thr731Met		46	0	0		47	0.06	3	NM_020713	40	0	0	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641251	0.47153	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.26067	1.76;1.76;1.76	5.48	4.52	0.55395	.	0.317411	0.33382	N	0.004976	T	0.30293	0.0760	L	0.55481	1.735	0.27430	N	0.954039	D	0.56035	0.974	P	0.49752	0.621	T	0.23154	-1.0196	10	0.87932	D	0	-3.9016	6.9121	0.24340	0.0915:0.0:0.6916:0.2169	.	731	Q96KM6	Z512B_HUMAN	M	731	ENSP00000358904:T731M;ENSP00000393795:T731M;ENSP00000217130:T731M	ENSP00000217130:T731M	T	-	2	0	ZNF512B	62064143	1.000000	0.71417	0.737000	0.30932	0.889000	0.51656	4.359000	0.59449	1.280000	0.44463	0.557000	0.71058	ACG			0.607	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080246.1		NM_020713		A	62593699	G	A	62593699	3	1	1	1	0	0	0	0	1	0	0	0	17980	1145	40	1	502	1	ZNF512B	20	62593699	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	6454989	62593699	431821	51	51											
THAP7	80764	hgsc.bcm.edu;broad.mit.edu	37	chr22	21354471	21354471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatatacgctgagggggAgactggccgtggttcgagag	9	7	17	8	3	0	3	0	1	0	2	1	5	0	3	1	4	2	3	1	4	2	3			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr22:21354471A>G	ENST00000215742.4	-	4	802	c.628T>C	c.(628-630)Tcc>Ccc	p.S210P	THAP7_ENST00000399133.2_Missense_Mutation_p.S210P|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	210					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)			GCTGAGGGGGAGACTGGCCGT	0.662																																					p.S210P													THAP7,trunk,malignant_melanoma,+1,1	THAP7	1	1	0			c.T628C												7	8	7					22																	21354471		2138	4208	6346	SO:0001583	missense	80764	exon4			AGGGGGAGACTGG	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.628T>C	22.37:g.21354471A>G	ENSP00000215742:p.Ser210Pro		59	0.0169491525	1		70	0.07	5	NM_030573	121	0	0	B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307676	0.81247	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96992	-4.2;-4.2	4.3	4.3	0.51218	.	0.418178	0.19936	N	0.102742	D	0.95692	0.8599	N	0.24115	0.695	0.48511	D	0.999665	D	0.71674	0.998	D	0.77557	0.99	D	0.94829	0.7994	10	0.42905	T	0.14	-8.1892	11.6959	0.51542	1.0:0.0:0.0:0.0	.	210	Q9BT49	THAP7_HUMAN	P	210	ENSP00000215742:S210P;ENSP00000382084:S210P	ENSP00000215742:S210P	S	-	1	0	THAP7	19684471	0.994000	0.37717	0.476000	0.27291	0.987000	0.75469	3.986000	0.56937	1.900000	0.55004	0.533000	0.62120	TCC			0.662	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320405.1		NM_030573		G	21354471	A	G	21354471	3	3	1	1	0	0	0	0	1	0	0	0	15872	304	11	4	305	4	THAP7	22	21354471	Missense_Mutation	SNP	A	TCGA-2G-AAEW-01A-11D-A42Y-10		21354471	29950095	52	52											
TYMP	1890	mdanderson.org	37	chr22	50966985	50966985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatccaggaatagactccaGcttatccaaggtgcctcctg	11	9	9	12	0	0	1	0	0	0	1	4	3	4	2	5	2	2	1	5	2	5	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chr22:50966985G>T	ENST00000252029.3	-	4	634	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	SCO2_ENST00000543927.1_5'Flank|SCO2_ENST00000395693.3_5'Flank|SCO2_ENST00000535425.1_5'Flank|TYMP_ENST00000395681.1_Missense_Mutation_p.L158M|SCO2_ENST00000252785.3_5'Flank|TYMP_ENST00000395678.3_Missense_Mutation_p.L158M|TYMP_ENST00000395680.1_Missense_Mutation_p.L158M	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	158					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)	ATAGACTCCAGCTTATCCAAG	0.577																																					p.L158M													.	.			0			c.C472A												131	99	110					22																	50966985		2203	4300	6503	SO:0001583	missense	1890	exon3			ACTCCAGCTTATC	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.472C>A	22.37:g.50966985G>T	ENSP00000252029:p.Leu158Met		62	0	0		53	0.06	3	NM_001113756	617	0	0	A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006764	0.74932	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678	D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87	4.55	4.55	0.56014	Pyrimidine-nucleoside phosphorylase, conserved site (1);Glycosyl transferase, family 3 (3);	0.091491	0.45867	D	0.000333	D	0.98963	0.9647	L	0.46157	1.445	0.41650	D	0.989125	D;D;D	0.71674	0.979;0.998;0.998	P;D;D	0.67103	0.878;0.949;0.949	D	0.98342	1.0539	10	0.72032	D	0.01	-8.7126	8.4391	0.32805	0.104:0.0:0.896:0.0	.	158;158;158	B4DVR2;E5KRG5;P19971	.;.;TYPH_HUMAN	M	158	ENSP00000379037:L158M;ENSP00000379038:L158M;ENSP00000252029:L158M;ENSP00000379036:L158M	ENSP00000252029:L158M	L	-	1	2	TYMP	49313851	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.116000	0.41930	2.364000	0.80123	0.555000	0.69702	CTG			0.577	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317081.1		NM_001953		T	50966985	G	T	50966985	3	4	1	1	0	0	0	0	1	0	0	0	16835	962	34	2	1004	2	TYMP	22	50966985	Missense_Mutation	SNP	G	TCGA-2G-AAEW-01A-11D-A42Y-10	29612514	50966985	337581	53	53											
IL3RA	3563	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	1501338	1501338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtctggtgactgaagtaCaggtcgtgcagaaaacttga	12	10	13	6	1	1	4	0	3	1	1	2	4	1	4	0	2	3	2	0	2	4	2			TCGA-2G-AAEW-01A-11D-A42Y-10	TCGA-2G-AAEW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cef64460-0ab5-4867-9675-da4a7d84310e	5f232b73-5281-4be0-9679-0920bcb4dd29	g.chrX:1501338C>G	ENST00000331035.4	+	12	1466	c.1117C>G	c.(1117-1119)Cag>Gag	p.Q373E	IL3RA_ENST00000381469.2_Missense_Mutation_p.Q295E	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	373					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		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)	GACTGAAGTACAGGTCGTGCA	0.642																																					p.Q373E													.	.			0			c.C1117G												220	226	224					X																	1501338		2203	4296	6499	SO:0001583	missense	3563	exon12			GAAGTACAGGTCG	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.1117C>G	X.37:g.1501338C>G	ENSP00000327890:p.Gln373Glu		498	0	0		481	0.15	74	NM_002183	117	0.02	2	A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.489979	0.26686	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;T	0.36699	1.5;1.24	1.7	1.7	0.24286	.	0.963797	0.08374	U	0.955588	T	0.16981	0.0408	N	0.22421	0.69	0.09310	N	1	P;P	0.39424	0.673;0.544	B;B	0.32022	0.139;0.066	T	0.05616	-1.0874	10	0.02654	T	1	.	6.6614	0.23016	0.0:1.0:0.0:0.0	.	294;373	P26951-2;P26951	.;IL3RA_HUMAN	E	373;295	ENSP00000327890:Q373E;ENSP00000370878:Q295E	ENSP00000327890:Q373E	Q	+	1	0	IL3RA	1461338	0.020000	0.18652	0.011000	0.14972	0.439000	0.31926	1.276000	0.33156	0.912000	0.36772	0.100000	0.15512	CAG			0.642	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055600.3				G	1501338	C	G	1501338	3	3	1	1	0	0	0	0	1	0	0	0	7710	479	17	5	1159	5	IL3RA	23	1501338	Missense_Mutation	SNP	C	TCGA-2G-AAEW-01A-11D-A42Y-10		1501338	153769222	54	54											
NBPF1	55672	broad.mit.edu	37	chr1	16918395	16918395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagttgagttacaaaacatTtctctttgaggtttctgaac	11	15	7	8	0	2	3	0	3	2	0	3	3	2	3	1	1	3	3	1	1	4	5	rs60769486		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:16918395T>C	ENST00000430580.2	-	7	1009	c.122A>G	c.(121-123)aAa>aGa	p.K41R		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	41						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TACAAAACATTTCTCTTTGAG	0.458																																					.													.	.			0			.												392	394	394					1																	16918395		2203	4300	6503	SO:0001583	missense	55672	.			AAACATTTCTCTT	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.122A>G	1.37:g.16918395T>C	ENSP00000474456:p.Lys41Arg		103	0.0097087379	1		104	0.05	5	.	3	0	0	Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37																																																																																						0.458	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000106436.3		NM_017940		C	16918395	T	C	16918395	3	2	2	1	0	0	0	0	1	0	0	0	10208	1841	64	4	3394	4	NBPF1	1	16918395	Missense_Mutation	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10		16918395	232332226	1	55											
HIVEP3	59269	broad.mit.edu	37	chr1	42048123	42048123	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttccctgattctgaaccGgaccctggcttgggagtcct	5	12	10	14	1	1	2	0	2	1	0	4	4	4	4	5	3	1	1	5	3	1	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:42048123G>T	ENST00000372583.1	-	4	3231	c.2346C>A	c.(2344-2346)tcC>tcA	p.S782S	HIVEP3_ENST00000247584.5_Silent_p.S782S|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Silent_p.S782S|HIVEP3_ENST00000429157.2_Silent_p.S782S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	782	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATTCTGAACCGGACCCTGGCT	0.542																																					p.S782S													.	HIVEP3	235		0			c.C2346A												44	48	46					1																	42048123		2203	4300	6503	SO:0001819	synonymous_variant	59269	exon4			TGAACCGGACCCT	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.2346C>A	1.37:g.42048123G>T			127	0	0		149	0.03	4	NM_024503	2	0	0	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																					0.542	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000016978.1		NM_024503		T	42048123	G	T	42048123	2	4	2	1	0	0	0	0	0	0	0	1	7203	1103	39	1		1	HIVEP3	1	42048123	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	25129728	42048123	207202498	2	56											
TMEM48	55706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	54269668	54269668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaagcaacatcaggtcCtgcaaggctaaatactaaca	17	7	8	9	0	1	1	1	1	0	1	2	2	2	1	1	2	5	3	1	2	7	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:54269668C>G	ENST00000371429.3	-	10	1597	c.999G>C	c.(997-999)caG>caC	p.Q333H	NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_Missense_Mutation_p.Q218H|NDC1_ENST00000540001.1_Missense_Mutation_p.Q333H	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	333					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										ACATCAGGTCCTGCAAGGCTA	0.343																																					p.Q333H													.	.			0			c.G999C												143	147	146					1																	54269668		2203	4300	6503	SO:0001583	missense	55706	exon10			CAGGTCCTGCAAG	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.999G>C	1.37:g.54269668C>G	ENSP00000360483:p.Gln333His		270	0	0		283	0.19	55	NM_018087	53	0.34	18	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171568	0.57584	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.53423	0.62;0.62;0.62	5.62	3.69	0.42338	.	0.053610	0.85682	D	0.000000	T	0.51143	0.1657	L	0.36672	1.1	0.51012	D	0.999908	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.44314	-0.9336	10	0.13853	T	0.58	.	8.0214	0.30412	0.0:0.6671:0.0:0.3329	.	293;333	B4DHA3;Q9BTX1	.;NDC1_HUMAN	H	333;333;333;218	ENSP00000360483:Q333H;ENSP00000440873:Q333H;ENSP00000234725:Q218H	ENSP00000234725:Q218H	Q	-	3	2	TMEM48	54042256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.142000	0.31540	0.686000	0.31488	0.543000	0.68304	CAG			0.343	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022101.1		NM_018087		G	54269668	C	G	54269668	3	3	2	1	0	0	0	0	1	0	0	0	16195	680	24	5	1061	5	TMEM48	1	54269668	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10	12221545	54269668	194980953	3	57											
CFH	3075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	196709833	196709833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtatggagaagaagttaCgtacaaatgttttgaaggtt	14	13	11	3	1	1	3	1	1	0	2	1	4	1	3	0	2	2	5	0	2	7	6	rs145975787	byFrequency	TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:196709833C>T	ENST00000367429.4	+	18	3107	c.2867C>T	c.(2866-2868)aCg>aTg	p.T956M		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	956	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.		T -> M (in AHUS1; dbSNP:rs145975787). {ECO:0000269|PubMed:11170895, ECO:0000269|PubMed:11851332}.		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						GAAGAAGTTACGTACAAATGT	0.388													C|||	6	0.00119808	0	0.0014	5008	,	,		16906	0		0.001	False		,,,				2504	0.0041				p.T956M													.	.			0			c.C2867T	GRCh37	CM010316	CFH	M	rs145975787		C	MET/THR	1,4405		0,1,2202	155	145	148		2867	-3.2	0	1	dbSNP_134	148	14,8586		0,14,4286	yes	missense	CFH	NM_000186.3	81	0,15,6488	TT,TC,CC		0.1628,0.0227,0.1153	possibly-damaging	956/1232	196709833	15,12991	2203	4300	6503	SO:0001583	missense	3075	exon18			AAGTTACGTACAA	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.2867C>T	1.37:g.196709833C>T	ENSP00000356399:p.Thr956Met		327	0	0		332	0.1	34	NM_000186	45	0	0	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	17.21	3.331413	0.60853	2.27E-4	0.001628	ENSG00000000971	ENST00000367429	T	0.65732	-0.17	6.06	-3.15	0.05233	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52191	0.1719	M	0.80616	2.505	0.09310	N	1	D	0.53462	0.96	B	0.39119	0.291	T	0.47433	-0.9118	9	0.46703	T	0.11	.	1.4941	0.02463	0.1163:0.3146:0.2267:0.3424	.	956	P08603	CFAH_HUMAN	M	956	ENSP00000356399:T956M	ENSP00000356399:T956M	T	+	2	0	CFH	194976456	0.000000	0.05858	0.000000	0.03702	0.463000	0.32649	-0.416000	0.07097	-0.959000	0.03618	0.650000	0.86243	ACG	0.001		0.388	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086412.2		NM_000186		T	196709833	C	T	196709833	3	4	2	1	0	0	0	0	1	0	0	0	3285	536	19	1	2955	1	CFH	1	196709833	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10	142440165	196709833	52540788	4	58											
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	228554833	228554843	+	Frame_Shift_Del	DEL	GACCAGTTTGA	GACCAGTTTGA	-																															cgctggtcacggggctgctgGaccagtttgagacccgcaag																										TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	GACCAGTTTGA	GACCAGTTTGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:228554833_228554843delGACCAGTTTGA	ENST00000422127.1	+	86	19629_19639	c.19585_19595delGACCAGTTTGA	c.(19585-19596)gaccagtttgagfs	p.DQFE6529fs	OBSCN_ENST00000366707.4_Frame_Shift_Del_p.DQFE4163fs|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.DQFE7486fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6529	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				GGGGCTGCTGGACCAGTTTGAGACCCGCAAG	0.664																																					p.7485_7489del													.	OBSCN	2142		0			c.22455_22465del																																									SO:0001589	frameshift_variant	84033	exon97			CTGCTGGACCAGT	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.19585_19595delGACCAGTTTGA	1.37:g.228554833_228554843delGACCAGTTTGA	ENSP00000409493:p.Asp6529fs		164	0	0		191	0.07	14	NM_001271223	1	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	CCDS58065.1																																																																																					0.664	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		-	228554843	GACCAGTTTGA	-	228554833	7	5	2	1	0	1	0	1	0	0	0	0	10829	1174	41	0	21133	0	OBSCN	1	228554833	Frame_Shift_Del	DEL	GACCAGTTTGA	TCGA-2G-AAEX-01A-11D-A42Y-10	31845000	228554833	20695788	5	59											
FMN2	56776	hgsc.bcm.edu	37	chr1	240371511	240371511	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgggcataccccctcctccCcctcttcccggagcgggcat	4	7	10	20	3	1	0	0	0	1	0	4	1	4	1	6	3	2	2	6	3	1	2			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:240371511C>G	ENST00000319653.9	+	5	3629	c.3399C>G	c.(3397-3399)ccC>ccG	p.P1133P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1133	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCCTCCCCCTCTTCCCG	0.716																																					p.P1133P													FMN2,NS,carcinoma,+2,1	FMN2	2	1	0			c.C3399G												6	8	7					1																	240371511		2081	4084	6165	SO:0001819	synonymous_variant	56776	exon5			TCCTCCCCCTCTT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3399C>G	1.37:g.240371511C>G			63	0	0		98	0.06	6	NM_020066	4	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																					0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		G	240371511	C	G	240371511	2	3	2	1	0	0	0	0	0	0	0	1	5963	610	22	5		5	FMN2	1	240371511	Silent	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10	11816678	240371511	8879110	6	60											
ZNF496	84838	broad.mit.edu	37	chr1	247492780	247492780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactcggggctgggaagcTccccctgggggctagggttc	5	7	18	11	1	0	0	0	0	0	0	3	2	1	2	2	7	1	4	2	7	2	2			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr1:247492780T>C	ENST00000294753.4	-	3	565	c.101A>G	c.(100-102)gAg>gGg	p.E34G	ZNF496_ENST00000366498.2_Missense_Mutation_p.E34G	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	34					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCTGGGAAGCTCCCCCTGGGG	0.687																																					p.E34G													.	ZNF496	80		0			c.A101G												36	46	42					1																	247492780		2203	4300	6503	SO:0001583	missense	84838	exon3			GGAAGCTCCCCCT	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.101A>G	1.37:g.247492780T>C	ENSP00000294753:p.Glu34Gly		267	0.0149812734	4		308	0.02	6	NM_032752	92	0	0	Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925814	0.52759	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07688	3.17;3.17	4.37	3.1	0.35709	Retrovirus capsid, C-terminal (1);	0.141755	0.32231	N	0.006384	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.99	D;P	0.78314	0.991;0.824	T	0.20505	-1.0273	9	.	.	.	-26.6926	5.3425	0.15990	0.0:0.1716:0.0:0.8284	.	34;34	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	G	34	ENSP00000294753:E34G;ENSP00000355454:E34G	.	E	-	2	0	ZNF496	245559403	0.977000	0.34250	0.176000	0.23000	0.824000	0.46624	3.341000	0.52151	0.701000	0.31803	0.459000	0.35465	GAG			0.687	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098655.2		NM_032752		C	247492780	T	C	247492780	3	2	2	1	0	0	0	0	1	0	0	0	17968	1551	54	4	1690	4	ZNF496	1	247492780	Missense_Mutation	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10	7121269	247492780	1757841	7	61											
APOB	338	broad.mit.edu	37	chr2	21255321	21255321	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgtgctgagggctcGgggatcagggccaccaggta	7	7	17	10	1	1	1	1	1	0	0	2	2	1	2	2	5	3	5	2	5	1	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:21255321G>T	ENST00000233242.1	-	10	1384	c.1257C>A	c.(1255-1257)ccC>ccA	p.P419P	APOB_ENST00000399256.4_Silent_p.P419P	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	419	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)					CTGAGGGCTCGGGGATCAGGG	0.597																																					p.P419P													.	APOB	761		0			c.C1257A												84	75	78					2																	21255321		2203	4300	6503	SO:0001819	synonymous_variant	338	exon10			GGGCTCGGGGATC	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.1257C>A	2.37:g.21255321G>T			70	0	0		70	0.04	3	NM_000384	0		0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																					0.597	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1				T	21255321	G	T	21255321	2	4	2	1	0	0	0	0	0	0	0	1	785	1103	39	1		1	APOB	2	21255321	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		21255321	221944052	8	62											
EIF5B	9669	broad.mit.edu	37	chr2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-																															gtggaaatgtactctgggagTgatgatgatgatgattttaa																										TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345																																					p.137_138del	Colon(162;2388 2567 2705 3444)												.	EIF5B	95		0			c.411_413del																																									SO:0001651	inframe_deletion	9669	exon4			TGGGAGTGATGAT	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del		136	0	0		163	0.04	7	NM_015904	94	0	0	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	CCDS42721.1																																																																																					0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330364.2		NM_015904		-	99977777	TGA	-	99977775	7	5	2	1	0	1	0	1	0	0	0	0	5051	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-2G-AAEX-01A-11D-A42Y-10	78722454	99977775	143221598	9	63											
PCDP1	200373	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	120362541	120362541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaagaaccaggaaaattGaagattaaagaattaagaga	23	6	8	4	0	0	5	0	1	0	4	0	7	0	6	2	1	2	0	2	1	10	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:120362541G>T	ENST00000413369.3	+	10	1089	c.1002G>T	c.(1000-1002)ttG>ttT	p.L334F	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Missense_Mutation_p.L48F	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CAGGAAAATTGAAGATTAAAG	0.393																																					p.L334F													.	.			0			c.G1002T												61	71	67					2																	120362541		2202	4300	6502	SO:0001583	missense	0	exon10			AAAATTGAAGATT																												ENST00000413369.3:c.1002G>T	2.37:g.120362541G>T	ENSP00000393222:p.Leu334Phe		85	0.0117647059	1		110	0.17	19	NM_001271049	1	0	0		Missense_Mutation	SNP	ENST00000413369.3	37	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888376	0.72524	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20463	2.07	5.84	1.96	0.26148	.	0.150419	0.28659	N	0.014575	T	0.30885	0.0779	L	0.49778	1.585	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.62298	0.9;0.868	T	0.03017	-1.1082	10	0.72032	D	0.01	-6.137	5.8937	0.18927	0.2854:0.1271:0.5875:0.0	.	178;334	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	F	48;334	ENSP00000393222:L334F	ENSP00000295220:L48F	L	+	3	2	AC069154.2	120079011	1.000000	0.71417	0.928000	0.36995	0.973000	0.67179	1.418000	0.34782	0.366000	0.24427	0.655000	0.94253	TTG			0.393	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464236.1				T	120362541	G	T	120362541	3	4	2	1	0	0	0	0	1	0	0	0	11589	1281	45	3	150	3	PCDP1	2	120362541	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	20384766	120362541	122836832	10	64											
THSD7B	80731	broad.mit.edu;mdanderson.org	37	chr2	137872842	137872842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcgtaccagcagctGccgcactgagggccaaggaa	11	3	13	14	2	0	2	0	1	0	1	0	3	0	3	4	2	5	4	4	2	3	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:137872842G>T	ENST00000409968.1	+	5	1526	c.1348G>T	c.(1348-1350)Gcc>Tcc	p.A450S	THSD7B_ENST00000272643.3_Missense_Mutation_p.A450S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.A419S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	450	TSP type-1 5. {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)		ACCAGCAGCTGCCGCACTGAG	0.602																																					.													.	THSD7B	506		0			.												21	26	24					2																	137872842		2002	4178	6180	SO:0001583	missense	80731	.			GCAGCTGCCGCAC			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.1348G>T	2.37:g.137872842G>T	ENSP00000387145:p.Ala450Ser		76	0	0		76	0.05	4	.	0		0		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	2.265	-0.368381	0.05069	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.21543	2.52;2.39;2.0	4.88	0.516	0.17019	.	0.795208	0.11871	N	0.521490	T	0.03477	0.0100	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42413	-0.9453	10	0.08381	T	0.77	.	3.2618	0.06851	0.3697:0.0:0.382:0.2483	.	450;419	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	450;450;419	ENSP00000387145:A450S;ENSP00000272643:A450S;ENSP00000413841:A419S	ENSP00000272643:A450S	A	+	1	0	THSD7B	137589312	0.000000	0.05858	0.017000	0.16124	0.026000	0.11368	-0.579000	0.05834	0.330000	0.23485	0.655000	0.94253	GCC			0.602	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000331769.2		XM_046570.9		T	137872842	G	T	137872842	3	4	2	1	0	0	0	0	1	0	0	0	15903	1319	46	2	1269	2	THSD7B	2	137872842	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	17510301	137872842	105326531	11	65											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179599514	179599514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaactcccactgtcttcaActtttacatccgtaatatca	12	14	3	12	1	3	0	2	0	1	0	5	0	5	0	2	0	3	2	2	0	5	6			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:179599514A>G	ENST00000591111.1	-	49	14410	c.14186T>C	c.(14185-14187)gTt>gCt	p.V4729A	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V5046A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V3802A			Q8WZ42	TITIN_HUMAN	titin	12109	Ig-like 27.				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)			ACTGTCTTCAACTTTTACATC	0.368																																					p.V5046A													.	.			0			c.T15137C												139	134	136					2																	179599514		1885	4115	6000	SO:0001583	missense	7273	exon51			TCTTCAACTTTTA	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.14186T>C	2.37:g.179599514A>G	ENSP00000465570:p.Val4729Ala		289	0	0		240	0.14	33	NM_001267550	0		0	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		.	.	.	.	.	.	.	.	.	.	A	11.66	1.704487	0.30232	.	.	ENSG00000155657	ENST00000342992	T	0.40476	1.03	5.89	5.89	0.94794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39489	0.1080	L	0.31664	0.95	0.80722	D	1	P	0.48407	0.91	P	0.45071	0.468	T	0.34950	-0.9808	9	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	4729	Q8WZ42	TITIN_HUMAN	A	3802	ENSP00000343764:V3802A	ENSP00000343764:V3802A	V	-	2	0	TTN	179307759	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	6.062000	0.71155	2.246000	0.74042	0.533000	0.62120	GTT			0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		G	179599514	A	G	179599514	3	3	2	1	0	0	0	0	1	0	0	0	16759	43	2	4	89640	4	TTN	2	179599514	Missense_Mutation	SNP	A	TCGA-2G-AAEX-01A-11D-A42Y-10	41726672	179599514	63599859	12	66											
SLC4A3	6508	mdanderson.org	37	chr2	220505587	220505587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggtggtcaagtccaCggcggcctcactcgcctttc	4	10	12	15	3	3	0	2	0	1	0	6	0	4	0	3	4	0	1	3	4	1	1	rs564171002		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr2:220505587C>T	ENST00000358055.3	+	22	4036	c.3524C>T	c.(3523-3525)aCg>aTg	p.T1175M	SLC4A3_ENST00000373762.3_Missense_Mutation_p.T1202M|SLC4A3_ENST00000317151.3_Missense_Mutation_p.T1175M|SLC4A3_ENST00000273063.6_Missense_Mutation_p.T1202M|SLC4A3_ENST00000373760.2_Missense_Mutation_p.T1175M			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1175	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCAAGTCCACGGCGGCCTCA	0.647													C|||	1	0.000199681	0	0	5008	,	,		18493	0		0.001	False		,,,				2504	0				p.T1202M													.	.			0			c.C3605T												66	54	58					2																	220505587		2203	4300	6503	SO:0001583	missense	6508	exon22			AGTCCACGGCGGC		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3524C>T	2.37:g.220505587C>T	ENSP00000350756:p.Thr1175Met		53	0	0		54	0.06	3	NM_201574	49	0	0	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841579	0.91197	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	4.83	4.83	0.62350	.	0.056267	0.64402	D	0.000001	D	0.86598	0.5971	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.944;0.985;0.988	D	0.90464	0.4448	10	0.87932	D	0	.	18.3098	0.90195	0.0:1.0:0.0:0.0	.	879;1175;1202	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	M	1175;1175;1202;1202;1175	ENSP00000350756:T1175M;ENSP00000362865:T1175M;ENSP00000273063:T1202M;ENSP00000362867:T1202M;ENSP00000314006:T1175M	ENSP00000273063:T1202M	T	+	2	0	SLC4A3	220213831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.396000	0.81511	0.563000	0.77884	ACG			0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316472.1		NM_005070		T	220505587	C	T	220505587	3	4	2	1	0	0	0	0	1	0	0	0	14678	536	19	1	3687	1	SLC4A3	2	220505587	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10	40906073	220505587	22693786	13	67											
PHLDB2	90102	broad.mit.edu;bcgsc.ca	37	chr3	111667853	111667858	+	In_Frame_Del	DEL	TGCTGA	TGCTGA	-																															tccccttccactcagtttccTgctgatgctgatgctgttgc																										TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	TGCTGA	TGCTGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr3:111667853_111667858delTGCTGA	ENST00000431670.2	+	10	2973_2978	c.2562_2567delTGCTGA	c.(2560-2568)cctgctgat>cct	p.AD857del	PHLDB2_ENST00000393923.3_In_Frame_Del_p.AD841del|PHLDB2_ENST00000393925.3_In_Frame_Del_p.AD857del|PHLDB2_ENST00000412622.1_In_Frame_Del_p.AD814del|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000481953.1_In_Frame_Del_p.AD814del	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	857						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						CTCAGTTTCCTGCTGATGCTGATGCT	0.471																																					p.854_856del													.	PHLDB2	449		0			c.2562_2567del																																									SO:0001651	inframe_deletion	90102	exon10			GTTTCCTGCTGAT		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.2562_2567delTGCTGA	3.37:g.111667859_111667864delTGCTGA	ENSP00000405405:p.Ala857_Asp858del		95	0	0		108	0.06	7	NM_001134439	8	0	0	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	In_Frame_Del	DEL	ENST00000431670.2	37	CCDS46886.1																																																																																					0.471	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354337.1		NM_145753		-	111667858	TGCTGA	-	111667853	7	5	2	1	0	1	0	1	0	0	0	0	11869	1567	55	0	2681	0	PHLDB2	3	111667853	In_Frame_Del	DEL	TGCTGA	TCGA-2G-AAEX-01A-11D-A42Y-10		111667853	86354577	14	68											
POPDC2	64091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	119378799	119378799	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccagagagcagcagggAcaggcggttgatgggtgtct	8	6	18	9	2	1	2	0	1	1	1	1	4	1	3	2	5	2	3	2	5	0	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr3:119378799A>C	ENST00000264231.3	-	1	638	c.472T>G	c.(472-474)Tcc>Gcc	p.S158A	POPDC2_ENST00000493094.1_Missense_Mutation_p.S158A|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000538678.1_Missense_Mutation_p.S158A|POPDC2_ENST00000468801.1_Missense_Mutation_p.S158A	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	158					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGCAGCAGGGACAGGCGGTTG	0.517																																					p.S158A													.	.			0			c.T472G												112	114	113					3																	119378799		2203	4300	6503	SO:0001583	missense	64091	exon1			GCAGGGACAGGCG	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.472T>G	3.37:g.119378799A>C	ENSP00000264231:p.Ser158Ala		113	0	0		114	0.1	11	NM_022135	1	0	0	Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512063	0.85389	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.69	5.69	0.88448	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.69135	-0.5225	10	0.66056	D	0.02	.	15.9315	0.79663	1.0:0.0:0.0:0.0	.	158;158	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	A	158	ENSP00000264231:S158A;ENSP00000417250:S158A;ENSP00000420715:S158A;ENSP00000438271:S158A	ENSP00000264231:S158A	S	-	1	0	POPDC2	120861489	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.335000	0.96500	2.162000	0.67917	0.533000	0.62120	TCC			0.517	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000355378.1		NM_022135		C	119378799	A	C	119378799	3	2	2	1	0	0	0	0	1	0	0	0	12272	275	10	4	638	4	POPDC2	3	119378799	Missense_Mutation	SNP	A	TCGA-2G-AAEX-01A-11D-A42Y-10	7710946	119378799	78643631	15	69											
COL6A5	256076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	130110226	130110226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttaatacatactcgaacaGatcagcaataattgagaatc	17	10	5	9	1	1	2	1	1	0	2	3	4	1	2	1	0	4	1	1	0	7	5			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr3:130110226G>C	ENST00000432398.2	+	7	3115	c.2621G>C	c.(2620-2622)aGa>aCa	p.R874T	COL6A5_ENST00000265379.6_Missense_Mutation_p.R874T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	874	Nonhelical region.|VWFA 5. {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 region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TACTCGAACAGATCAGCAATA	0.478																																					p.R874T													COL6A5,NS,carcinoma,+1,1	COL6A5	1	1	0			c.G2621C												119	92	100					3																	130110226		692	1591	2283	SO:0001583	missense	256076	exon7			CGAACAGATCAGC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2621G>C	3.37:g.130110226G>C	ENSP00000390895:p.Arg874Thr		414	0	0		475	0.19	88	NM_153264	0		0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	12.28	1.889491	0.33348	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.82526	-1.62;-1.62	5.72	0.922	0.19408	.	.	.	.	.	T	0.80003	0.4544	L	0.35793	1.09	0.09310	N	1	P	0.36392	0.551	P	0.47044	0.535	T	0.68591	-0.5368	9	0.37606	T	0.19	.	8.7209	0.34441	0.5432:0.0:0.4568:0.0	.	874	A8TX70-2	.	T	874	ENSP00000390895:R874T;ENSP00000265379:R874T	ENSP00000265379:R874T	R	+	2	0	COL6A5	131592916	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.441000	0.21611	0.225000	0.20959	0.655000	0.94253	AGA			0.478	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_153264		C	130110226	G	C	130110226	3	2	2	1	0	0	0	0	1	0	0	0	3704	942	33	5	2643	5	COL6A5	3	130110226	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	10731427	130110226	67912204	16	70											
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.E545K	Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	PIK3CA_ENST00000263967,NS,carcinoma,0,1370	PIK3CA_ENST00000263967	0	1370	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	c.G1633A												61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290	exon10			ATCACTGAGCAGG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		425	0	0		461	0.11	50	NM_006218	15	0.13	2	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG			0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000348409.2				A	178936091	G	A	178936091	3	1	2	1	0	0	0	0	1	0	0	0	11930	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	48825865	178936091	19086339	17	71											
SLIT2	9353	mdanderson.org	37	chr4	20255518	20255518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaggtggcaccgcaggCgtgcccggcgcagtgctctt	7	6	15	13	4	1	0	0	0	1	0	1	1	1	0	2	4	3	4	2	4	2	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr4:20255518C>T	ENST00000504154.1	+	1	332	c.80C>T	c.(79-81)gCg>gTg	p.A27V	SLIT2_ENST00000503823.1_Missense_Mutation_p.A27V|SLIT2_ENST00000503837.1_Missense_Mutation_p.A27V|SLIT2_ENST00000273739.5_Missense_Mutation_p.A27V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	27					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						GCACCGCAGGCGTGCCCGGCG	0.672																																					p.A27V													.	.			0			c.C80T												94	74	81					4																	20255518		2203	4299	6502	SO:0001583	missense	9353	exon1			CGCAGGCGTGCCC	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.80C>T	4.37:g.20255518C>T	ENSP00000422591:p.Ala27Val		24	0	0		24	0.08	2	NM_004787	0		0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205256	0.79127	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	3.85	3.85	0.44370	Leucine-rich repeat-containing N-terminal (2);	0.211314	0.40222	N	0.001154	D	0.95586	0.8565	M	0.62266	1.93	0.34322	D	0.686746	D;P	0.53885	0.963;0.808	P;B	0.46452	0.517;0.38	D	0.98487	1.0608	10	0.51188	T	0.08	.	15.8964	0.79338	0.0:1.0:0.0:0.0	.	27;27	O94813-3;O94813	.;SLIT2_HUMAN	V	27	ENSP00000427548:A27V;ENSP00000422591:A27V;ENSP00000273739:A27V;ENSP00000422261:A27V	ENSP00000273739:A27V	A	+	2	0	SLIT2	19864616	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.218000	0.65257	2.130000	0.65690	0.313000	0.20887	GCG			0.672	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250396.2				T	20255518	C	T	20255518	3	4	2	1	0	0	0	0	1	0	0	0	14763	768	27	1	82	1	SLIT2	4	20255518	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10		20255518	170898758	18	72											
HMMR	3161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	162909769	162909769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatcagattttggcaactGagagctcaaatcaagaatat	16	10	8	7	0	3	3	3	1	0	3	3	4	3	3	0	1	3	3	0	1	5	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr5:162909769G>A	ENST00000358715.3	+	13	1540	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	HMMR_ENST00000353866.3_Missense_Mutation_p.E487K|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.E503K|HMMR_ENST00000432118.2_Missense_Mutation_p.E416K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	502					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TTTGGCAACTGAGAGCTCAAA	0.393																																					p.E503K													.	.			0			c.G1507A												79	79	79					5																	162909769		2203	4300	6503	SO:0001583	missense	3161	exon13			GCAACTGAGAGCT	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1504G>A	5.37:g.162909769G>A	ENSP00000351554:p.Glu502Lys		344	0	0		306	0.21	63	NM_001142556	19	0.47	9	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681569	0.68042	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	5.43	3.57	0.40892	.	0.431784	0.26023	N	0.026813	T	0.14874	0.0359	L	0.57536	1.79	0.28604	N	0.909017	D;D;D;D	0.59767	0.984;0.986;0.957;0.957	P;P;P;P	0.54965	0.765;0.73;0.689;0.689	T	0.03945	-1.0990	10	0.23891	T	0.37	-14.269	8.7634	0.34689	0.08:0.1503:0.7697:0.0	.	416;503;487;502	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	K	388;487;503;479;416;502	ENSP00000400527:E388K;ENSP00000185942:E487K;ENSP00000377492:E503K;ENSP00000402673:E416K;ENSP00000351554:E502K	ENSP00000185942:E487K	E	+	1	0	HMMR	162842347	0.992000	0.36948	0.755000	0.31263	0.603000	0.37013	2.728000	0.47319	1.506000	0.48736	0.650000	0.86243	GAG			0.393	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000252752.1		NM_012484		A	162909769	G	A	162909769	3	1	2	1	0	0	0	0	1	0	0	0	7257	1291	45	3	1557	3	HMMR	5	162909769	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		162909769	18005491	19	73											
FOXQ1	94234	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	1313401	1313401	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcatgggcaagttcccCtttttccgcggcagctacac	7	11	8	15	2	1	0	1	0	0	0	3	0	3	0	4	2	3	4	4	2	3	5			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr6:1313401C>G	ENST00000296839.2	+	1	727	c.462C>G	c.(460-462)ccC>ccG	p.P154P		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	154					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)		GCAAGTTCCCCTTTTTCCGCG	0.652																																					p.P154P													.	.			0			c.C462G												39	40	40					6																	1313401		2199	4293	6492	SO:0001819	synonymous_variant	94234	exon1			GTTCCCCTTTTTC	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.462C>G	6.37:g.1313401C>G			75	0	0		106	0.15	16	NM_033260	0		0	Q9NS06	Silent	SNP	ENST00000296839.2	37	CCDS4471.1																																																																																					0.652	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043410.1		NM_033260		G	1313401	C	G	1313401	2	3	2	1	0	0	0	0	0	0	0	1	6043	668	24	5		5	FOXQ1	6	1313401	Silent	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10		1313401	169801666	20	74											
LRRC16A	55604	mdanderson.org	37	chr6	25509914	25509914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgctcaagtattagaaGgttgcattgctgaaatacac	13	11	11	6	0	1	2	1	1	0	1	1	3	1	2	0	2	4	5	0	2	6	5			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr6:25509914G>T	ENST00000329474.6	+	18	1794	c.1426G>T	c.(1426-1428)Ggt>Tgt	p.G476C		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	476					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGTATTAGAAGGTTGCATTGC	0.338																																					p.G476C													.	.			0			c.G1426T												90	79	82					6																	25509914		1890	4115	6005	SO:0001583	missense	55604	exon18			TTAGAAGGTTGCA	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1426G>T	6.37:g.25509914G>T	ENSP00000331983:p.Gly476Cys		100	0	0		112	0.04	5	NM_001173977	10	0	0	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644449	0.87859	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.53423	0.62	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	L	0.34521	1.04	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	0.56165	-0.8024	10	0.56958	D	0.05	.	18.6162	0.91303	0.0:0.0:1.0:0.0	.	476;476;476	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	C	476	ENSP00000331983:G476C	ENSP00000331983:G476C	G	+	1	0	LRRC16A	25617893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.336000	0.79245	2.456000	0.83038	0.591000	0.81541	GGT			0.338	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000040045.2		NM_017640		T	25509914	G	T	25509914	3	4	2	1	0	0	0	0	1	0	0	0	8987	1000	35	3	1496	3	LRRC16A	6	25509914	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	24196513	25509914	145605153	21	75											
DPCR1	135656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	30919139	30919139	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcctacagaacatggagaAacgacagtcaatgaggacac	18	4	10	9	1	1	3	1	1	0	2	1	6	1	4	1	2	4	0	1	2	5	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr6:30919139A>G	ENST00000462446.1	+	2	2926	c.2898A>G	c.(2896-2898)gaA>gaG	p.E966E	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	309						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AACATGGAGAAACGACAGTCA	0.517																																					p.E966E													.	.			0			c.A2898G												303	272	281					6																	30919139		692	1591	2283	SO:0001819	synonymous_variant	135656	exon2			TGGAGAAACGACA	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2898A>G	6.37:g.30919139A>G			72	0	0		69	0.2	14	NM_080870	1	1	1	C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	CCDS4692.2																																																																																					0.517	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000076173.3		NM_080870		G	30919139	A	G	30919139	2	3	2	1	0	0	0	0	0	0	0	1	4717	11	1	4		4	DPCR1	6	30919139	Silent	SNP	A	TCGA-2G-AAEX-01A-11D-A42Y-10	5409225	30919139	140195928	22	76											
DEF6	50619	broad.mit.edu	37	chr6	35278309	35278309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggccaagaagaactatcGggcagatagcaacgggaaca	16	3	13	9	3	0	3	0	0	0	3	1	5	0	4	1	3	4	2	1	3	7	2	rs150604825	byFrequency	TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr6:35278309G>T	ENST00000316637.5	+	3	316	c.311G>T	c.(310-312)cGg>cTg	p.R104L	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	104						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AAGAACTATCGGGCAGATAGC	0.537																																					p.R104L													.	DEF6	36		0			c.G311T												185	156	166					6																	35278309		2203	4300	6503	SO:0001583	missense	50619	exon3			ACTATCGGGCAGA	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.311G>T	6.37:g.35278309G>T	ENSP00000319831:p.Arg104Leu		76	0	0		100	0.03	3	NM_022047	60	0	0	Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471410	0.43942	.	.	ENSG00000023892	ENST00000316637	T	0.11930	2.73	5.47	-2.97	0.05530	.	0.521709	0.20688	N	0.087518	T	0.04092	0.0114	L	0.41236	1.265	0.24160	N	0.995665	B;B	0.22146	0.065;0.065	B;B	0.22601	0.04;0.04	T	0.36720	-0.9736	10	0.66056	D	0.02	-11.0613	13.259	0.60095	0.6205:0.0:0.3795:0.0	.	104;104	B2RBP7;Q9H4E7	.;DEFI6_HUMAN	L	104	ENSP00000319831:R104L	ENSP00000319831:R104L	R	+	2	0	DEF6	35386287	0.000000	0.05858	0.000000	0.03702	0.994000	0.84299	-0.265000	0.08644	-0.520000	0.06435	-0.258000	0.10820	CGG			0.537	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040276.1		NM_022047		T	35278309	G	T	35278309	3	4	2	1	0	0	0	0	1	0	0	0	4388	1116	39	1	321	1	DEF6	6	35278309	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	4359170	35278309	135836758	23	77											
SCRN1	9805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	29994942	29994942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcttatcattatggcatagGtccttggaacttggtcgatt	8	16	10	7	1	1	0	1	0	0	0	3	2	2	1	1	4	2	2	1	4	4	6			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr7:29994942G>A	ENST00000426154.1	-	3	370	c.194C>T	c.(193-195)aCc>aTc	p.T65I	SCRN1_ENST00000242059.5_Missense_Mutation_p.T65I|SCRN1_ENST00000416113.2_5'Flank|SCRN1_ENST00000425819.2_5'UTR|SCRN1_ENST00000409570.1_Missense_Mutation_p.T65I|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.T65I|SCRN1_ENST00000434476.2_Missense_Mutation_p.T85I	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	65					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TATGGCATAGGTCCTTGGAAC	0.488																																					p.T85I													.	.			0			c.C254T												111	107	109					7																	29994942		2203	4300	6503	SO:0001583	missense	9805	exon3			GCATAGGTCCTTG	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.194C>T	7.37:g.29994942G>A	ENSP00000409068:p.Thr65Ile		117	0	0		156	0.12	19	NM_001145514	40	0.18	7	A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816609	0.90790	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000409497;ENST00000434476;ENST00000421434;ENST00000438497;ENST00000409570	T;T;T;T;T;T;T	0.36520	2.86;2.86;2.86;2.79;1.97;1.31;1.25	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82234	-0.0558	9	.	.	.	-26.0551	18.3976	0.90504	0.0:0.0:1.0:0.0	.	85;65	C9JPG0;Q12765	.;SCRN1_HUMAN	I	65;65;65;85;65;65;65	ENSP00000242059:T65I;ENSP00000409068:T65I;ENSP00000386872:T65I;ENSP00000388942:T85I;ENSP00000413184:T65I;ENSP00000406289:T65I;ENSP00000387052:T65I	.	T	-	2	0	SCRN1	29961467	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.342000	0.97044	2.706000	0.92434	0.557000	0.71058	ACC			0.488	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214231.2		NM_014766		A	29994942	G	A	29994942	3	1	2	1	0	0	0	0	1	0	0	0	13961	1261	44	3	1074	3	SCRN1	7	29994942	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		29994942	129143721	24	78											
KIF13B	23303	broad.mit.edu	37	chr8	28929816	28929816	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgcaccagcacgtcaggGcccatctccggctgagcctg	6	7	12	16	2	3	1	1	1	2	0	4	1	3	1	4	2	3	3	4	2	0	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr8:28929816G>T	ENST00000524189.1	-	39	4577	c.4539C>A	c.(4537-4539)ggC>ggA	p.G1513G	KIF13B_ENST00000404075.3_Silent_p.G32G	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1513					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCACGTCAGGGCCCATCTCCG	0.597																																					p.G1513G													.	KIF13B	192		0			c.C4539A												8	10	9					8																	28929816		1991	4139	6130	SO:0001819	synonymous_variant	23303	exon39			GTCAGGGCCCATC	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4539C>A	8.37:g.28929816G>T			159	0	0		241	0.02	4	NM_015254	13	0	0	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	CCDS55217.1																																																																																					0.597	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376878.1				T	28929816	G	T	28929816	2	4	2	1	0	0	0	0	0	0	0	1	8290	1190	42	2		2	KIF13B	8	28929816	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		28929816	117434206	25	79											
RECQL4	113655	mdanderson.org	37	chr8	145738815	145738815	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtacccgccgccgttcccgGctgcacatgcccgcgtggta	4	8	12	17	6	0	0	0	0	0	0	1	0	1	0	5	2	3	5	5	2	2	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr8:145738815G>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.S750R|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	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)			GCCGTTCCCGGCTGCACATGC	0.662																																					p.S750R													.	.			0			c.C2250A												20	25	23					8																	145738815		2100	4199	6299	SO:0001628	intergenic_variant	9401	exon14			TTCCCGGCTGCAC		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738815G>T			23	0	0		52	0.06	3	NM_004260	220	0	0		Missense_Mutation	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																					0.662	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382478.2		NM_138431		T	145738815	G	T	145738815	1	4	2	0	1	0	0	0	0	0	0	0	13225	1194	42	2		2	RECQL4	8	145738815	IGR	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	116808999	145738815	625207	26	80											
KCNV2	169522	broad.mit.edu	37	chr9	2717880	2717880	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcatccacggctggacAgagggcaactataactacta	13	6	10	12	1	0	1	0	0	0	1	1	2	1	2	2	3	4	3	2	3	5	4			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr9:2717880A>T	ENST00000382082.3	+	1	379	c.141A>T	c.(139-141)acA>acT	p.T47T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	47					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)		ACGGCTGGACAGAGGGCAACT	0.627																																					p.T47T													.	KCNV2	72		0			c.A141T												128	111	117					9																	2717880		2203	4300	6503	SO:0001819	synonymous_variant	169522	exon1			CTGGACAGAGGGC	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.141A>T	9.37:g.2717880A>T			152	0	0		238	0.03	6	NM_133497	0		0	Q5T6X0	Silent	SNP	ENST00000382082.3	37	CCDS6447.1																																																																																					0.627	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051528.1		NM_133497		T	2717880	A	T	2717880	2	4	2	1	0	0	0	0	0	0	0	1	8110	175	7	5		5	KCNV2	9	2717880	Silent	SNP	A	TCGA-2G-AAEX-01A-11D-A42Y-10		2717880	138495551	27	81											
KCNT1	57582	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	138662153	138662153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccacagggagggacaGgagtctccggagcagtggca	9	4	17	11	1	1	0	0	0	1	0	2	4	1	4	2	6	1	2	2	6	0	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr9:138662153G>A	ENST00000263604.3	+	17	1572	c.1572G>A	c.(1570-1572)caG>caA	p.Q524Q	KCNT1_ENST00000490355.2_Silent_p.Q524Q|KCNT1_ENST00000298480.5_Silent_p.Q543Q|KCNT1_ENST00000491806.2_Silent_p.Q510Q|KCNT1_ENST00000371757.2_Silent_p.Q543Q|KCNT1_ENST00000486577.2_Silent_p.Q504Q|KCNT1_ENST00000487664.1_Silent_p.Q498Q|KCNT1_ENST00000488444.2_Silent_p.Q524Q			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	524	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGGAGGGACAGGAGTCTCCGG	0.682																																					p.Q543Q													KCNT1,NS,carcinoma,+1,1	KCNT1	1	1	0			c.G1629A												41	37	38					9																	138662153		2203	4300	6503	SO:0001819	synonymous_variant	57582	exon17			GGGACAGGAGTCT	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1572G>A	9.37:g.138662153G>A			61	0	0		58	0.16	9	NM_020822	0		0	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																						0.682	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_020822		A	138662153	G	A	138662153	2	1	2	1	0	0	0	0	0	0	0	1	8106	991	35	3		3	KCNT1	9	138662153	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	135944273	138662153	2551278	28	82											
PNPLA7	375775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	140379046	140379046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaggcttaccgatggcGctgagggcatgctccagctc	6	8	14	13	2	1	1	1	1	0	0	3	2	2	1	2	4	3	6	2	4	1	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr9:140379046G>A	ENST00000277531.4	-	20	2451	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	PNPLA7_ENST00000371457.1_Silent_p.S361S|PNPLA7_ENST00000406427.1_Silent_p.S780S	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	755					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TACCGATGGCGCTGAGGGCAT	0.682																																					p.S780S													.	.			0			c.C2340T																																									SO:0001819	synonymous_variant	375775	exon21			GATGGCGCTGAGG	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2265C>T	9.37:g.140379046G>A			93	0	0		85	0.12	10	NM_001098537	0		0	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	CCDS7045.1																																																																																					0.682	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000254787.1		NM_152286		A	140379046	G	A	140379046	2	1	2	1	0	0	0	0	0	0	0	1	12187	1078	38	1		1	PNPLA7	9	140379046	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	1716893	140379046	834385	29	83											
TIMM23	100287932	broad.mit.edu	37	chr10	51592585	51592585	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctggtaagtgttagtccTgtcagaccacctcgtgctat	8	12	11	10	1	1	1	1	0	0	1	3	1	2	1	3	2	1	4	3	2	3	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr10:51592585T>C	ENST00000260867.4	-	7	672	c.549A>G	c.(547-549)acA>acG	p.T183T	TIMM23_ENST00000374065.3_Silent_p.T146T|TIMM23_ENST00000374064.3_Silent_p.T135T|TIMM23_ENST00000485812.1_5'UTR	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	183					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						GTGTTAGTCCTGTCAGACCAC	0.458																																					p.T183T													.	TIMM23	4		0			c.A549G												137	129	132					10																	51592585		2203	4300	6503	SO:0001819	synonymous_variant	100287932	exon7			TAGTCCTGTCAGA	AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.549A>G	10.37:g.51592585T>C			112	0.0089285714	1		112	0.03	3	NM_006327	509	0	0	Q53FF8|Q5T1E6|Q6P5S5	Silent	SNP	ENST00000260867.4	37	CCDS7238.1	.	.	.	.	.	.	.	.	.	.	T	1.240	-0.621638	0.03636	.	.	ENSG00000138297	ENST00000444743	.	.	.	5.41	2.9	0.33743	.	.	.	.	.	T	0.44932	0.1317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34775	-0.9815	4	.	.	.	-17.9647	2.6283	0.04936	0.1197:0.137:0.1242:0.6191	.	.	.	.	G	81	.	.	R	-	1	2	TIMM23	51262591	0.993000	0.37304	0.984000	0.44739	0.003000	0.03518	0.153000	0.16323	1.017000	0.39495	0.533000	0.62120	AGG			0.458	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048040.1		NM_006327.2		C	51592585	T	C	51592585	2	2	2	1	0	0	0	0	0	0	0	1	15934	1567	55	4		4	TIMM23	10	51592585	Silent	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10		51592585	83942162	30	84											
MUC2	4583	hgsc.bcm.edu	37	chr11	1092970	1092970	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacggtgaccccaaccccaAcacccaccggcacacagacc	12	2	6	21	2	0	2	0	1	0	1	0	2	0	2	7	2	3	1	7	2	3	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:1092970A>C	ENST00000441003.2	+	30	4816	c.4789A>C	c.(4789-4791)Aca>Cca	p.T1597P	MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	cccaaccccaacacccaccgg	0.637																																					p.T1597P													MUC2_ENST00000441003,NS,carcinoma,-1,1	MUC2_ENST00000441003	-1	1	0			c.A4789C												47	82	69					11																	1092970		1780	3232	5012	SO:0001583	missense	4583	exon30			ACCCCAACACCCA	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.4789A>C	11.37:g.1092970A>C	ENSP00000415183:p.Thr1597Pro		51	0.0196078431	1		37	0.08	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	A	3.935	-0.015316	0.07681	.	.	ENSG00000198788	ENST00000441003	T	0.14766	2.48	1.75	1.75	0.24633	.	.	.	.	.	T	0.06645	0.0170	.	.	.	0.09310	N	1	P	0.49090	0.919	B	0.34779	0.189	T	0.30707	-0.9969	8	0.25751	T	0.34	.	6.906	0.24309	1.0:0.0:0.0:0.0	.	1597	E7EUV1	.	P	1597	ENSP00000415183:T1597P	ENSP00000415183:T1597P	T	+	1	0	MUC2	1082970	0.023000	0.18921	0.001000	0.08648	0.141000	0.21300	1.295000	0.33377	0.841000	0.35020	0.102000	0.15555	ACA			0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		C	1092970	A	C	1092970	3	2	2	1	0	0	0	0	1	0	0	0	9991	43	2	4	4907	4	MUC2	11	1092970	Missense_Mutation	SNP	A	TCGA-2G-AAEX-01A-11D-A42Y-10		1092970	133913546	31	85											
PHLDA2	7262	broad.mit.edu	37	chr11	2950232	2950232	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacggcgtcctcggcgggTgcggcgggtgcggtgcgttc	1	7	20	13	8	0	0	0	0	0	0	3	0	1	0	2	6	3	1	2	6	0	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:2950232T>G	ENST00000314222.4	-	1	453	c.363A>C	c.(361-363)gcA>gcC	p.A121A		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	121					apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCGGCGGGTGCGGCGGGTG	0.746																																					p.A121A													.	PHLDA2	10		0			c.A363C												5	8	7					11																	2950232		1890	3859	5749	SO:0001819	synonymous_variant	7262	exon1			GGCGGGTGCGGCG	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"Pleckstrin homology (PH) domain containing"	12385	protein-coding gene	gene with protein product		602131	"tumor suppressing subtransferable candidate 3"	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.363A>C	11.37:g.2950232T>G			26	0.4230769231	11		42	0.45	19	NM_003311	0		0	O00496	Silent	SNP	ENST00000314222.4	37	CCDS7741.1																																																																																					0.746	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030116.1		NM_003311		G	2950232	T	G	2950232	2	3	2	1	0	0	0	0	0	0	0	1	11866	1683	59	4		4	PHLDA2	11	2950232	Silent	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10	1857262	2950232	132056284	32	86											
PHLDA2	7262	broad.mit.edu	37	chr11	2950513	2950513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaggtgagcaccccgcGcttcttcttccatagctgga	6	10	12	13	3	2	1	0	1	2	0	4	3	3	3	3	3	2	3	3	3	1	4	rs554708054		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:2950513G>T	ENST00000314222.4	-	1	172	c.82C>A	c.(82-84)Cgc>Agc	p.R28S		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	28	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R28S(1)		central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCACCCCGCGCTTCTTCTTC	0.672																																					p.R28S													PHLDA2,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	PHLDA2	10	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.C82A												18	20	19					11																	2950513		2199	4297	6496	SO:0001583	missense	7262	exon1			CCCCGCGCTTCTT	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"Pleckstrin homology (PH) domain containing"	12385	protein-coding gene	gene with protein product		602131	"tumor suppressing subtransferable candidate 3"	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.82C>A	11.37:g.2950513G>T	ENSP00000319231:p.Arg28Ser		57	0.0175438596	1		73	0.1	7	NM_003311	17	0	0	O00496	Missense_Mutation	SNP	ENST00000314222.4	37	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727508	0.69074	.	.	ENSG00000181649	ENST00000314222	T	0.45668	0.89	3.51	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.303419	0.25124	U	0.032956	T	0.43055	0.1230	M	0.66939	2.045	0.40575	D	0.98133	P	0.43578	0.811	B	0.39771	0.309	T	0.53507	-0.8429	10	0.44086	T	0.13	-19.9369	15.3955	0.74790	0.0:0.0:1.0:0.0	.	28	Q53GA4	PHLA2_HUMAN	S	28	ENSP00000319231:R28S	ENSP00000319231:R28S	R	-	1	0	PHLDA2	2907089	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.678000	0.46900	1.660000	0.50760	0.313000	0.20887	CGC			0.672	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030116.1		NM_003311		T	2950513	G	T	2950513	3	4	2	1	0	0	0	0	1	0	0	0	11866	1087	38	1	380	1	PHLDA2	11	2950513	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	281	2950513	132056003	33	87											
SMPD1	6609	hgsc.bcm.edu	37	chr11	6411972	6411972	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggcgctggcgctggcTctgtctgactctcgggttct	1	12	15	13	4	4	1	0	1	4	0	5	1	4	1	0	4	0	5	0	4	0	1	rs281860676		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:6411972T>G	ENST00000342245.4	+	1	312	c.144T>G	c.(142-144)gcT>gcG	p.A48A	SMPD1_ENST00000356761.2_Silent_p.A48A|SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000527275.1_Silent_p.A48A|SMPD1_ENST00000299397.3_Silent_p.A48A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	47					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	tggcgctggcTCTGTCTGACT	0.697																																					p.A48A													SMPD1_ENST00000342245,colon,carcinoma,+1,2	SMPD1_ENST00000342245	1	2	0			c.T144G												25	28	27					11																	6411972		2201	4296	6497	SO:0001819	synonymous_variant	6609	exon1			GCTGGCTCTGTCT	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.144T>G	11.37:g.6411972T>G			61	0.0163934426	1		83	0.06	5	NM_000543	12	0	0	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	37	CCDS44531.1																																																																																					0.697	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000384205.1		NM_000543		G	6411972	T	G	6411972	2	3	2	1	0	0	0	0	0	0	0	1	14827	1538	54	4		4	SMPD1	11	6411972	Silent	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10	3461459	6411972	128594544	34	88											
SYVN1	84447	mdanderson.org	37	chr11	64895914	64895914	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcggagctctgctgcatcGggctctccatcctcaggcat	5	9	12	15	3	3	0	1	0	2	0	6	1	4	1	2	4	3	5	2	4	0	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:64895914G>T	ENST00000377190.3	-	16	1888	c.1794C>A	c.(1792-1794)ccC>ccA	p.P598P	SYVN1_ENST00000294256.8_Silent_p.P597P|SYVN1_ENST00000307289.6_Silent_p.P546P|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Silent_p.P597P	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	598					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)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTGCTGCATCGGGCTCTCCAT	0.637																																					p.P598P													.	.			0			c.C1794A												32	38	36					11																	64895914		2201	4297	6498	SO:0001819	synonymous_variant	84447	exon16			TGCATCGGGCTCT	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1794C>A	11.37:g.64895914G>T			60	0	0		68	0.06	4	NM_172230	155	0	0	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	a	5.891	0.348444	0.11126	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	-5.58	0.02512	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50372	-0.8836	6	0.59425	D	0.04	.	2.2074	0.03939	0.2486:0.1214:0.3927:0.2373	.	.	.	.	Q	598	.	ENSP00000412962:P598Q	P	-	2	0	SYVN1	64652490	0.000000	0.05858	0.858000	0.33744	0.929000	0.56500	-4.618000	0.00207	-1.497000	0.01826	-1.431000	0.01090	CCG			0.637	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000385274.1		NM_032431		T	64895914	G	T	64895914	2	4	2	1	0	0	0	0	0	0	0	1	15510	1103	39	1		1	SYVN1	11	64895914	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	58483942	64895914	70110602	35	89											
INPPL1	3636	ucsc.edu	37	chr11	71942183	71942183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcgaccgcgagtggctgGacctactgcgcgggggcctc	4	6	18	13	5	0	0	0	0	0	0	1	3	0	1	3	5	2	1	3	5	1	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:71942183G>T	ENST00000298229.2	+	12	1651	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	INPPL1_ENST00000541756.1_Missense_Mutation_p.D241Y|INPPL1_ENST00000538751.1_Missense_Mutation_p.D241Y	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	483					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						CGAGTGGCTGGACCTACTGCG	0.617																																					p.D483Y													.	INPPL1	120		0			c.G1447T												137	146	143					11																	71942183		2199	4293	6492	SO:0001583	missense	3636	exon12			TGGCTGGACCTAC	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.1447G>T	11.37:g.71942183G>T	ENSP00000298229:p.Asp483Tyr		54	0	0		42	0.1	4	NM_001567	75	0	0	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.494353	0.85069	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.81579	-1.51;-1.51;-1.51	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.052776	0.85682	D	0.000000	D	0.88887	0.6559	M	0.75615	2.305	0.58432	D	0.999998	D	0.71674	0.998	P	0.61874	0.895	D	0.89524	0.3780	10	0.87932	D	0	.	18.6606	0.91470	0.0:0.0:1.0:0.0	.	483	O15357	SHIP2_HUMAN	Y	483;241;241	ENSP00000298229:D483Y;ENSP00000446360:D241Y;ENSP00000444619:D241Y	ENSP00000298229:D483Y	D	+	1	0	INPPL1	71619831	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.594000	0.82698	2.746000	0.94184	0.655000	0.94253	GAC			0.617	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396789.1		NM_001567		T	71942183	G	T	71942183	3	4	2	1	0	0	0	0	1	0	0	0	7776	1174	41	3	1493	3	INPPL1	11	71942183	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	7046269	71942183	63064333	36	90											
FAT3	120114	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	92573793	92573793	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagactcctttcacaaTgggcctcccttttcattctc	8	13	6	14	0	3	1	2	0	1	1	6	3	5	1	3	1	0	0	3	1	1	4			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr11:92573793T>A	ENST00000298047.6	+	17	10451	c.10434T>A	c.(10432-10434)aaT>aaA	p.N3478K	FAT3_ENST00000409404.2_Missense_Mutation_p.N3478K|FAT3_ENST00000525166.1_Missense_Mutation_p.N3328K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3478	Cadherin 32. {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)				CCTTTCACAATGGGCCTCCCT	0.463										TCGA Ovarian(4;0.039)																											p.N3478K													.	FAT3	1822		0			c.T10434A												81	81	81					11																	92573793		1887	4135	6022	SO:0001583	missense	120114	exon17			TCACAATGGGCCT	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.10434T>A	11.37:g.92573793T>A	ENSP00000298047:p.Asn3478Lys		172	0.0058139535	1		156	0.21	33	NM_001008781	1	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	19.57	3.852650	0.71719	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59906	0.23;0.23;0.23	5.2	0.319	0.15873	.	.	.	.	.	T	0.81550	0.4846	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80999	-0.1131	9	0.87932	D	0	.	8.5753	0.33595	0.0:0.3222:0.0:0.6778	.	3478	Q8TDW7-3	.	K	3478;3478;3328	ENSP00000298047:N3478K;ENSP00000387040:N3478K;ENSP00000432586:N3328K	ENSP00000298047:N3478K	N	+	3	2	FAT3	92213441	0.979000	0.34478	0.999000	0.59377	0.999000	0.98932	0.112000	0.15479	0.019000	0.15079	0.533000	0.62120	AAT			0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding				NM_001008781		A	92573793	T	A	92573793	3	1	2	1	0	0	0	0	1	0	0	0	5704	1461	51	5	10500	5	FAT3	11	92573793	Missense_Mutation	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10	20631610	92573793	42432723	37	91											
CACNA1C	775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	2743461	2743461	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgctctgccccatgcAgcactatttctgtgatgcat	6	12	9	14	1	2	1	0	1	2	0	2	1	2	1	3	1	5	5	3	1	1	2			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr12:2743461A>C	ENST00000347598.4	+	32	3972		c.e32-1		CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						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)	TGCCCCATGCAGCACTATTTC	0.403																																					.													.	.			0			c.3829-2A>C												64	56	58					12																	2743461		1934	4131	6065	SO:0001630	splice_region_variant	775	exon30			CCATGCAGCACTA	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.3973-1A>C	12.37:g.2743461A>C			91	0	0		283	0.14	41	NM_001129839	1	0	0	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	Splice_Site	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158701	0.78226	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399638;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000399634;ENST00000399595;ENST00000322367	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2552	0.73579	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2613722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.004000	0.58718	0.533000	0.62120	.			0.403	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317035.1		NM_000719	Intron	C	2743461	A	C	2743461	5	2	2	1	0	0	0	0	0	0	1	0	2542	202	7	4	4205	4	CACNA1C	12	2743461	Splice_Site	SNP	A	TCGA-2G-AAEX-01A-11D-A42Y-10		2743461	131108434	38	92											
TRAFD1	10906	broad.mit.edu	37	chr12	112579948	112579948	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagccccccaaagagggTggtgaagagagtgcaaactt	14	5	12	10	0	0	3	0	1	0	2	0	4	0	3	3	2	4	1	3	2	4	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr12:112579948T>G	ENST00000257604.5	+	6	1316	c.699T>G	c.(697-699)ggT>ggG	p.G233G	TRAFD1_ENST00000412615.2_Silent_p.G233G	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	233					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						CCAAAGAGGGTGGTGAAGAGA	0.473																																					p.G233G													.	TRAFD1	42		0			c.T699G												93	98	96					12																	112579948		2203	4300	6503	SO:0001819	synonymous_variant	10906	exon6			AGAGGGTGGTGAA	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.699T>G	12.37:g.112579948T>G			90	0.1111111111	10		145	0.17	25	NM_001143906	63	0	0	A8K5L6|B4DI89	Silent	SNP	ENST00000257604.5	37	CCDS9160.1																																																																																					0.473	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405214.1		NM_006700		G	112579948	T	G	112579948	2	3	2	1	0	0	0	0	0	0	0	1	16471	1683	59	4		4	TRAFD1	12	112579948	Silent	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10	109836487	112579948	21271947	39	93											
GCN1L1	10985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	120616506	120616506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcatgccagcatagttCtggttgggctctaggctgag	7	10	13	11	0	2	1	0	1	2	0	2	1	2	1	2	3	3	6	2	3	2	4			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr12:120616506C>A	ENST00000300648.6	-	7	594	c.582G>T	c.(580-582)caG>caT	p.Q194H		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	194					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)					CAGCATAGTTCTGGTTGGGCT	0.567																																					p.Q194H													.	.			0			c.G582T												100	102	101					12																	120616506		2058	4218	6276	SO:0001583	missense	10985	exon7			ATAGTTCTGGTTG	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.582G>T	12.37:g.120616506C>A	ENSP00000300648:p.Gln194His		167	0	0		237	0.19	44	NM_006836	45	0.11	5	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	7.870	0.727881	0.15507	.	.	ENSG00000089154	ENST00000300648	T	0.05139	3.49	5.69	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.057098	0.64402	D	0.000001	T	0.05044	0.0135	N	0.19112	0.55	0.42041	D	0.991073	B	0.02656	0.0	B	0.04013	0.001	T	0.38156	-0.9674	10	0.40728	T	0.16	0.8317	10.9661	0.47414	0.0:0.8482:0.0:0.1518	.	194	Q92616	GCN1L_HUMAN	H	194	ENSP00000300648:Q194H	ENSP00000300648:Q194H	Q	-	3	2	GCN1L1	119100889	0.840000	0.29493	1.000000	0.80357	0.943000	0.58893	0.285000	0.18883	1.385000	0.46445	0.563000	0.77884	CAG			0.567	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403592.1				A	120616506	C	A	120616506	3	1	2	1	0	0	0	0	1	0	0	0	6313	912	32	3	7641	3	GCN1L1	12	120616506	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10	8036558	120616506	13235389	40	94											
CDX2	1045	mdanderson.org	37	chr13	28542962	28542962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggccaggatggccccGgggactgcgcgctgtccaag	5	5	16	15	4	0	0	0	0	0	0	1	2	1	2	5	5	2	1	5	5	1	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr13:28542962G>C	ENST00000381020.7	-	1	2314	c.182C>G	c.(181-183)cCg>cGg	p.P61R	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	61					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGATGGCCCCGGGGACTGCGC	0.736			T	ETV6	AML																																p.P61R				Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	CDX2,NS,carcinoma,-1,1	CDX2	-1	1	0			c.C182G												8	11	10					13																	28542962		2153	4248	6401	SO:0001583	missense	1045	exon1			GGCCCCGGGGACT	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"Homeoboxes / ANTP class : HOXL subclass"	1806	protein-coding gene	gene with protein product		600297	"caudal type homeo box transcription factor 2"	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.182C>G	13.37:g.28542962G>C	ENSP00000370408:p.Pro61Arg		17	0	0		12	0.25	3	NM_001265	0		0	O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	ENST00000381020.7	37	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369474	0.61624	.	.	ENSG00000165556	ENST00000381020	T	0.54675	0.56	4.5	4.5	0.54988	Caudal-like activation domain (1);	0.109668	0.41001	D	0.000968	T	0.65344	0.2682	M	0.61703	1.905	0.39709	D	0.971303	D	0.67145	0.996	D	0.71184	0.972	T	0.64837	-0.6313	10	0.34782	T	0.22	-25.0259	10.9408	0.47273	0.0873:0.0:0.9127:0.0	.	61	Q99626	CDX2_HUMAN	R	61	ENSP00000370408:P61R	ENSP00000370408:P61R	P	-	2	0	CDX2	27440962	0.142000	0.22610	0.985000	0.45067	0.547000	0.35210	1.940000	0.40223	2.331000	0.79229	0.407000	0.27541	CCG			0.736	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044312.5				C	28542962	G	C	28542962	3	2	2	1	0	0	0	0	1	0	0	0	3185	1116	39	5	771	5	CDX2	13	28542962	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		28542962	86626916	41	95											
ATP11A	23250	broad.mit.edu	37	chr13	113530168	113530168	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctggctggccatcgtGctgctggtgaccatcagcct	4	9	12	16	2	1	1	1	1	0	0	2	1	1	1	5	3	3	3	5	3	0	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr13:113530168G>T	ENST00000487903.1	+	28	3328	c.3240G>T	c.(3238-3240)gtG>gtT	p.V1080V	ATP11A_ENST00000375645.3_Silent_p.V1080V|ATP11A_ENST00000375630.2_Silent_p.V1080V|ATP11A_ENST00000283558.8_Silent_p.V1080V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1080					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)				TGGCCATCGTGCTGCTGGTGA	0.607																																					p.V1080V													.	ATP11A	225		0			c.G3240T												71	65	67					13																	113530168		2203	4300	6503	SO:0001819	synonymous_variant	23250	exon28			CATCGTGCTGCTG	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.3240G>T	13.37:g.113530168G>T			60	0	0		92	0.03	3	NM_032189	4	0	0	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	0.573	-0.840484	0.02692	.	.	ENSG00000068650	ENST00000415301	.	.	.	4.79	-4.08	0.03963	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36432	-0.9748	4	.	.	.	.	0.1593	0.00101	0.2611:0.2737:0.1848:0.2804	.	.	.	.	S	16	.	.	A	+	1	0	ATP11A	112578169	0.006000	0.16342	0.002000	0.10522	0.004000	0.04260	-0.698000	0.05092	-0.690000	0.05142	-0.305000	0.09177	GCT			0.607	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000045834.3		NM_015205		T	113530168	G	T	113530168	2	4	2	1	0	0	0	0	0	0	0	1	1119	1306	46	2		2	ATP11A	13	113530168	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	84987206	113530168	1639710	42	96											
CHD8	57680	mdanderson.org	37	chr14	21871325	21871325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggtcaatggcagcctGtcgaaggttgcctctaactc	9	9	12	11	2	2	0	1	0	1	0	4	2	2	0	2	3	4	2	2	3	4	2			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr14:21871325G>T	ENST00000557364.1	-	18	3828	c.3565C>A	c.(3565-3567)Cag>Aag	p.Q1189K	CHD8_ENST00000430710.3_Missense_Mutation_p.Q910K|CHD8_ENST00000399982.2_Missense_Mutation_p.Q1189K|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1189	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATGGCAGCCTGTCGAAGGTTG	0.478																																					p.Q1189K													.	.			0			c.C3565A												64	68	67					14																	21871325		2076	4223	6299	SO:0001583	missense	57680	exon17			CAGCCTGTCGAAG	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3565C>A	14.37:g.21871325G>T	ENSP00000451601:p.Gln1189Lys		63	0	0		91	0.04	4	NM_001170629	20	0	0	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.929492|4.929492	0.92389|0.92389	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.95554|.	-3.74;-3.74;-3.74|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75221|0.75221	0.3820|0.3820	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.79108|.	0.992;0.979|.	T|T	0.73764|0.73764	-0.3880|-0.3880	10|5	0.46703|.	T|.	0.11|.	-19.5637|-19.5637	17.9328|17.9328	0.89004|0.89004	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1189;910|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	K|K	910;1189;909;1189|414	ENSP00000406288:Q910K;ENSP00000382863:Q1189K;ENSP00000451601:Q1189K|.	ENSP00000262707:Q909K|.	Q|T	-|-	1|2	0|0	CHD8|CHD8	20941165|20941165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.654000|9.654000	0.98509|0.98509	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CAG|ACA			0.478	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410436.1		NM_020920		T	21871325	G	T	21871325	3	4	2	1	0	0	0	0	1	0	0	0	3333	1386	48	3	4264	3	CHD8	14	21871325	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		21871325	85478215	43	97											
IPO4	79711	mdanderson.org	37	chr14	24653309	24653309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgataaggctgcaaatagGctgtacctggtcaaagcagg	12	7	12	10	1	1	0	1	0	0	0	1	1	1	0	2	4	3	5	2	4	5	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr14:24653309G>T	ENST00000354464.6	-	18	1940	c.1764C>A	c.(1762-1764)agC>agA	p.S588R	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	588					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTGCAAATAGGCTGTACCTGG	0.597																																					p.S588R													.	.			0			c.C1764A												32	33	33					14																	24653309		1992	4174	6166	SO:0001583	missense	79711	exon18			AAATAGGCTGTAC	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1764C>A	14.37:g.24653309G>T	ENSP00000346453:p.Ser588Arg		91	0.010989011	1		124	0.04	5	NM_024658	196	0	0	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709121	0.48517	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.59638	0.25	5.93	0.227	0.15359	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	L	0.59436	1.845	0.58432	D	0.999993	D;D	0.69078	0.994;0.997	P;D	0.64042	0.837;0.921	T	0.58983	-0.7539	10	0.23302	T	0.38	-14.8753	10.4724	0.44644	0.4744:0.0:0.5256:0.0	.	588;588	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	R	588;264	ENSP00000346453:S588R	ENSP00000346453:S588R	S	-	3	2	IPO4	23723149	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	1.237000	0.32695	0.099000	0.17552	0.655000	0.94253	AGC			0.597	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071931.4		NM_024658		T	24653309	G	T	24653309	3	4	2	1	0	0	0	0	1	0	0	0	7810	1194	42	2	1533	2	IPO4	14	24653309	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	2781984	24653309	82696231	44	98											
ADAMTS17	170691	broad.mit.edu	37	chr15	100672218	100672218	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaggggacttacggggggTtgtcacatttcctctgcctg	5	12	14	10	1	3	0	2	0	1	0	4	1	4	1	2	5	2	1	2	5	1	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr15:100672218T>G	ENST00000268070.4	-	12	1820	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	572	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTACGGGGGGTTGTCACATTT	0.627											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N572T													.	ADAMTS17	127		0			c.A1715C												58	62	60					15																	100672218		2203	4300	6503	SO:0001583	missense	170691	exon12			GGGGGGTTGTCAC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1715A>C	15.37:g.100672218T>G	ENSP00000268070:p.Asn572Thr		71	0.1408450704	10	1353	103	0.21	22	NM_139057	0		0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407643	0.62399	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.53640	0.61	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.46885	1.475	0.58432	D	0.999999	P;P	0.47484	0.59;0.896	B;P	0.48952	0.264;0.596	T	0.55786	-0.8086	10	0.66056	D	0.02	.	15.1255	0.72481	0.0:0.0:0.0:1.0	.	329;572	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	T	572;329	ENSP00000268070:N572T	ENSP00000268070:N572T	N	-	2	0	ADAMTS17	98489741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.666000	0.68059	1.961000	0.56991	0.459000	0.35465	AAC			0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313595.1		NM_139057		G	100672218	T	G	100672218	3	3	2	1	0	0	0	0	1	0	0	0	262	1725	60	4	1616	4	ADAMTS17	15	100672218	Missense_Mutation	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10		100672218	1859174	45	99											
USP31	57478	mdanderson.org	37	chr16	23083466	23083466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcacgctggctggcttGctgcccgggagccggctcac	4	7	16	14	3	2	0	2	0	0	0	2	2	2	1	2	5	3	5	2	5	0	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:23083466G>T	ENST00000219689.7	-	15	2387	c.2388C>A	c.(2386-2388)agC>agA	p.S796R	USP31_ENST00000567975.1_Missense_Mutation_p.S89R	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGGCTGGCTTGCTGCCCGGGA	0.607																																					p.S796R													.	.			0			c.C2388A												64	66	65					16																	23083466		2197	4300	6497	SO:0001583	missense	57478	exon15			TGGCTTGCTGCCC	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2388C>A	16.37:g.23083466G>T	ENSP00000219689:p.Ser796Arg		46	0	0		54	0.06	3	NM_020718	12	0	0	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455623	0.84209	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.09911	2.93	5.84	3.57	0.40892	.	0.109437	0.64402	D	0.000012	T	0.30417	0.0764	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.994;0.996;0.999	T	0.05954	-1.0854	10	0.72032	D	0.01	-10.6022	12.6817	0.56926	0.1561:0.0:0.8439:0.0	.	99;796;89	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	R	796;99	ENSP00000219689:S796R	ENSP00000219689:S796R	S	-	3	2	USP31	22990967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.340000	0.65958	1.476000	0.48215	0.655000	0.94253	AGC			0.607	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211607.1		NM_020718		T	23083466	G	T	23083466	3	4	2	1	0	0	0	0	1	0	0	0	17086	1310	46	2	1678	2	USP31	16	23083466	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		23083466	67271287	46	100											
RBBP6	5930	broad.mit.edu;bcgsc.ca	37	chr16	24567688	24567688	+	Frame_Shift_Del	DEL	C	C	-																															actggaattcccagaagtttCatgatggaagtgaaagatcc																								rs147371757		TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:24567688delC	ENST00000319715.4	+	7	1026	c.594delC	c.(592-594)ttcfs	p.F198fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.F198fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.F198fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	198					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)		CCAGAAGTTTCATGATGGAAG	0.368																																					p.F198fs													.	RBBP6	158		0			c.594delC												94	89	91					16																	24567688		2197	4300	6497	SO:0001589	frameshift_variant	5930	exon7			AAGTTTCATGATG		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	ENST00000319715.4:c.594delC	16.37:g.24567688delC	ENSP00000317872:p.Phe198fs		85	0	0		72	0.11	8	NM_018703	41	0.12	5	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	CCDS10621.1																																																																																					0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214067.2		NM_006910		-	24567688	C	-	24567688	7	5	2	1	0	1	0	1	0	0	0	0	13126	825	29	0	674	0	RBBP6	16	24567688	Frame_Shift_Del	DEL	C	TCGA-2G-AAEX-01A-11D-A42Y-10	1484222	24567688	65787065	47	101											
MYST1	84148	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	31129017	31129017	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgatggcggcacagggAgctgctgcggcggttgcggc	4	5	19	13	6	0	0	0	0	0	0	0	2	0	1	1	6	4	4	1	6	0	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:31129017A>G	ENST00000543774.2	+	2	350	c.15A>G	c.(13-15)ggA>ggG	p.G5G	RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Silent_p.G5G|KAT8_ENST00000219797.4_Silent_p.G5G			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	5					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)										CGGCACAGGGAGCTGCTGCGG	0.731																																					p.G5G													.	.			0			c.A15G												3	5	4					16																	31129017		1484	2756	4240	SO:0001819	synonymous_variant	84148	exon1			ACAGGGAGCTGCT	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.15A>G	16.37:g.31129017A>G			58	0	0		54	0.22	12	NM_182958	2	0	0	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	CCDS10706.1																																																																																					0.731	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000255546.3		NM_032188		G	31129017	A	G	31129017	2	3	2	1	0	0	0	0	0	0	0	1	10118	291	11	4		4	MYST1	16	31129017	Silent	SNP	A	TCGA-2G-AAEX-01A-11D-A42Y-10	6561329	31129017	59225736	48	102											
DDX19B	11269	broad.mit.edu	37	chr16	70363771	70363771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagatgctgcttttctccGccacctttgaagactctgtg	6	13	9	13	1	2	3	0	1	2	2	3	3	2	3	4	0	2	2	4	0	1	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:70363771G>A	ENST00000288071.6	+	9	1068	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	DDX19B_ENST00000393657.2_Missense_Mutation_p.A166T|DDX19B_ENST00000563392.1_Missense_Mutation_p.A166T|DDX19B_ENST00000355992.3_Missense_Mutation_p.A244T|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000451014.3_Missense_Mutation_p.A249T|DDX19B_ENST00000568625.1_Missense_Mutation_p.A166T|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Missense_Mutation_p.A280T	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	275	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCTTTTCTCCGCCACCTTTGA	0.572																																					p.A275T	Esophageal Squamous(26;382 757 1343 9728 15939)												.	DDX19B	31		0			c.G823A												75	74	75					16																	70363771		2198	4297	6495	SO:0001583	missense	11269	exon9			TTCTCCGCCACCT	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.823G>A	16.37:g.70363771G>A	ENSP00000288071:p.Ala275Thr		194	0	0		252	0.02	5	NM_007242	84	0	0	B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450269	0.96205	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.19	5.19	0.71726	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	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;0.998;0.979	T	0.83316	-0.0020	10	0.87932	D	0	-8.1352	16.2471	0.82449	0.0:0.0:1.0:0.0	.	249;244;275	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	T	249;244;166;275	ENSP00000392639:A249T;ENSP00000348271:A244T;ENSP00000377267:A166T;ENSP00000288071:A275T	ENSP00000288071:A275T	A	+	1	0	DDX19B	68921272	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.164000	0.94755	2.715000	0.92844	0.609000	0.83330	GCC			0.572	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268965.3		NM_007242		A	70363771	G	A	70363771	3	1	2	1	0	0	0	0	1	0	0	0	4349	1087	38	1	857	1	DDX19B	16	70363771	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	39234754	70363771	19990982	49	103											
HYDIN	54768	mdanderson.org	37	chr16	70954860	70954860	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccttgcttccggtcccaGtacatgaggatgttctggac	7	12	10	12	1	1	1	0	1	1	0	4	3	4	3	3	3	2	3	3	3	1	4			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:70954860G>T	ENST00000393567.2	-	46	7569	c.7419C>A	c.(7417-7419)taC>taA	p.Y2473*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2473					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)				TCCGGTCCCAGTACATGAGGA	0.592																																					p.Y2473X													.	.			0			c.C7419A												20	20	20					16																	70954860		1966	4113	6079	SO:0001587	stop_gained	54768	exon46			GTCCCAGTACATG	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.7419C>A	16.37:g.70954860G>T	ENSP00000377197:p.Tyr2473*		51	0	0		59	0.05	3	NM_001270974	0		0	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	49	15.529045	0.99837	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	5.89	2.88	0.33553	.	0.671856	0.11212	U	0.587643	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7746	0.40612	0.1991:0.0:0.8009:0.0	.	.	.	.	X	2473;2472	.	ENSP00000313052:Y2472X	Y	-	3	2	HYDIN	69512361	0.864000	0.29904	0.651000	0.29564	0.940000	0.58332	1.126000	0.31344	0.389000	0.25086	0.609000	0.83330	TAC			0.592	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000398624.3				T	70954860	G	T	70954860	4	4	2	1	0	0	0	0	0	1	0	0	7482	1024	36	3	8110	3	HYDIN	16	70954860	Nonsense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	591089	70954860	19399893	50	104											
IL17C	27189	broad.mit.edu	37	chr16	88705614	88705614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcaagccacagggggAggcacgagaggccctcagct	11	2	16	12	1	1	1	1	0	0	1	1	3	1	2	2	5	3	4	2	5	1	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:88705614A>G	ENST00000244241.4	+	2	281	c.232A>G	c.(232-234)Agg>Ggg	p.R78G		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	78					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCACAGGGGGAGGCACGAGAG	0.687																																					p.R78G													.	IL17C	6		0			c.A232G												26	33	31					16																	88705614		2166	4275	6441	SO:0001583	missense	27189	exon2			AGGGGGAGGCACG	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.232A>G	16.37:g.88705614A>G	ENSP00000244241:p.Arg78Gly		56	0.0178571429	1		67	0.04	3	NM_013278	0		0	Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205270	0.39003	.	.	ENSG00000124391	ENST00000244241	T	0.53857	0.6	4.81	-5.67	0.02444	.	1.357460	0.05661	N	0.586954	T	0.31638	0.0803	L	0.27053	0.805	0.09310	N	1	B	0.26400	0.148	B	0.24848	0.056	T	0.31558	-0.9939	10	0.59425	D	0.04	-2.8677	1.4532	0.02380	0.3776:0.2776:0.1909:0.1539	.	78	Q9P0M4	IL17C_HUMAN	G	78	ENSP00000244241:R78G	ENSP00000244241:R78G	R	+	1	2	IL17C	87233115	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.018000	0.03626	-0.454000	0.07066	-0.396000	0.06452	AGG			0.687	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422575.1		NM_013278		G	88705614	A	G	88705614	3	3	2	1	0	0	0	0	1	0	0	0	7651	295	11	4	238	4	IL17C	16	88705614	Missense_Mutation	SNP	A	TCGA-2G-AAEX-01A-11D-A42Y-10	17750754	88705614	1649139	51	105											
ANKRD11	29123	broad.mit.edu	37	chr16	89346906	89346906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaggcgggaggggcggggTacggcgcctccgaggcgctg	5	3	23	10	6	0	1	0	0	0	1	1	4	1	2	2	8	1	2	2	8	1	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:89346906T>G	ENST00000301030.4	-	9	6504	c.6044A>C	c.(6043-6045)tAc>tCc	p.Y2015S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y2015S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2015	Pro-rich.				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)		AGGGGCGGGGTACGGCGCCTC	0.721																																					p.Y2015S													.	ANKRD11	195		0			c.A6044C																																									SO:0001583	missense	29123	exon9			GCGGGGTACGGCG	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.6044A>C	16.37:g.89346906T>G	ENSP00000301030:p.Tyr2015Ser		53	0.358490566	19		70	0.59	41	NM_001256183	114	0.11	12	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	t	13.45	2.242091	0.39598	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.41065	1.01;1.01	5.29	4.16	0.48862	.	0.171432	0.38778	N	0.001561	T	0.30386	0.0763	L	0.34521	1.04	0.80722	D	1	B	0.22800	0.075	B	0.17098	0.017	T	0.04991	-1.0913	10	0.25751	T	0.34	.	11.0477	0.47867	0.1395:0.0:0.0:0.8605	.	2015	Q6UB99	ANR11_HUMAN	S	2015	ENSP00000301030:Y2015S;ENSP00000367581:Y2015S	ENSP00000301030:Y2015S	Y	-	2	0	ANKRD11	87874407	1.000000	0.71417	0.977000	0.42913	0.023000	0.10783	4.288000	0.59007	0.795000	0.33922	0.370000	0.22315	TAC			0.721	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		G	89346906	T	G	89346906	3	3	2	1	0	0	0	0	1	0	0	0	639	1638	57	4	1967	4	ANKRD11	16	89346906	Missense_Mutation	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10	641292	89346906	1007847	52	106											
SPG7	6687	mdanderson.org	37	chr16	89590464	89590464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaccgagagcggctgCgcaccttgctggtcatcgcg	7	8	14	12	5	1	2	1	0	0	2	2	3	1	2	2	2	4	4	2	2	1	2			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr16:89590464C>T	ENST00000268704.2	+	4	442	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	SPG7_ENST00000341316.2_Missense_Mutation_p.R143C	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	143					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AGAGCGGCTGCGCACCTTGCT	0.582																																					p.R143C													.	.			0			c.C427T												64	57	60					16																	89590464		2198	4300	6498	SO:0001583	missense	6687	exon4			CGGCTGCGCACCT	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.427C>T	16.37:g.89590464C>T	ENSP00000268704:p.Arg143Cys		38	0	0		48	0.08	4	NM_003119	106	0	0	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848836	0.71603	.	.	ENSG00000197912	ENST00000268704;ENST00000341316;ENST00000312632	D;D	0.94138	-3.16;-3.36	5.3	5.3	0.74995	Peptidase M41, FtsH (1);	0.000000	0.85682	D	0.000000	D	0.94085	0.8104	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.953	D	0.93097	0.6505	10	0.38643	T	0.18	-3.5062	14.1835	0.65590	0.1496:0.8504:0.0:0.0	.	143;143	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	C	143;143;120	ENSP00000268704:R143C;ENSP00000341157:R143C	ENSP00000268704:R143C	R	+	1	0	SPG7	88117965	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.718000	0.68455	2.637000	0.89404	0.561000	0.74099	CGC			0.582	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269921.2		NM_003119		T	89590464	C	T	89590464	3	4	2	1	0	0	0	0	1	0	0	0	15067	768	27	1	441	1	SPG7	16	89590464	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10	243558	89590464	764289	53	107											
PSMD11	5717	broad.mit.edu	37	chr17	30771555	30771555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaagatggcggcggcggCggtggtggagttccagagag	7	6	21	7	5	0	2	0	0	0	2	1	4	1	3	1	8	0	2	1	8	1	2			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:30771555C>T	ENST00000261712.3	+	1	277	c.14C>T	c.(13-15)gCg>gTg	p.A5V	PSMD11_ENST00000457654.2_Missense_Mutation_p.A5V	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.701																																					p.A5V	Ovarian(130;1038 1716 9294 11987 19279)												.	PSMD11	41		0			c.C14T												18	18	18					17																	30771555		2186	4270	6456	SO:0001583	missense	5717	exon1			CGGCGGCGGTGGT	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.14C>T	17.37:g.30771555C>T	ENSP00000261712:p.Ala5Val		218	0.004587156	1		234	0.03	8	NM_002815	92	0	0	A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999150	0.74818	.	.	ENSG00000108671	ENST00000261712	.	.	.	5.25	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.08118	0	0.53688	D	0.999975	P;B	0.37038	0.579;0.212	B;B	0.33392	0.163;0.049	T	0.08086	-1.0739	9	0.27785	T	0.31	-19.5166	11.4424	0.50105	0.0:0.9133:0.0:0.0867	.	5;5	B4DTS5;O00231	.;PSD11_HUMAN	V	5	.	ENSP00000261712:A5V	A	+	2	0	PSMD11	27795668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.945000	0.75947	1.455000	0.47813	0.558000	0.71614	GCG			0.701	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256252.2		NM_002815		T	30771555	C	T	30771555	3	4	2	1	0	0	0	0	1	0	0	0	12714	768	27	1	16	1	PSMD11	17	30771555	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10		30771555	50423655	54	108											
C17orf66	256957	mdanderson.org	37	chr17	34190002	34190002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcctcccaatcaccttGtctttagagacagcagccca	10	10	6	15	0	2	1	1	0	1	1	4	2	4	1	4	0	2	1	4	0	2	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:34190002G>T	ENST00000311880.2	-	8	901	c.753C>A	c.(751-753)gaC>gaA	p.D251E	C17orf66_ENST00000592980.1_Missense_Mutation_p.D211E|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		251					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)		CAATCACCTTGTCTTTAGAGA	0.478																																					p.D251E													.	.			0			c.C753A												140	132	135					17																	34190002		2203	4300	6503	SO:0001583	missense	256957	exon8			CACCTTGTCTTTA																												ENST00000311880.2:c.753C>A	17.37:g.34190002G>T	ENSP00000309560:p.Asp251Glu		125	0	0		101	0.05	5	NM_152781	0		0	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650168	0.47362	.	.	ENSG00000172653	ENST00000311880	T	0.46451	0.87	5.17	1.89	0.25635	Armadillo-like helical (1);Armadillo-type fold (1);	0.536026	0.17193	N	0.183410	T	0.20981	0.0505	L	0.29908	0.895	0.24560	N	0.993979	P;P;P	0.50156	0.932;0.884;0.888	B;B;B	0.40901	0.343;0.328;0.285	T	0.21109	-1.0255	10	0.02654	T	1	.	4.0758	0.09904	0.206:0.0:0.614:0.1799	.	217;211;251	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	E	251	ENSP00000309560:D251E	ENSP00000309560:D251E	D	-	3	2	C17orf66	31214115	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	0.230000	0.17852	0.261000	0.21753	-0.345000	0.07892	GAC			0.478	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256487.1				T	34190002	G	T	34190002	3	4	2	1	0	0	0	0	1	0	0	0	1876	1368	48	3	991	3	C17orf66	17	34190002	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	3418447	34190002	47005208	55	109											
ACLY	47	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40028012	40028012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttgttcacaaactccatgGggataatgccactgtcaaag	12	11	8	10	0	3	0	2	0	1	0	4	1	4	1	2	2	2	1	2	2	3	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:40028012G>A	ENST00000352035.2	-	25	2997	c.2867C>T	c.(2866-2868)cCc>cTc	p.P956L	ACLY_ENST00000537919.1_Missense_Mutation_p.P685L|ACLY_ENST00000393896.2_Missense_Mutation_p.P946L|ACLY_ENST00000590151.1_Missense_Mutation_p.P956L|ACLY_ENST00000588779.1_5'Flank|ACLY_ENST00000353196.1_Missense_Mutation_p.P946L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	956					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)				AAACTCCATGGGGATAATGCC	0.502																																					p.P956L	Colon(64;807 1396 15971 30971)												.	ACLY	85		0			c.C2867T												144	124	131					17																	40028012		2203	4300	6503	SO:0001583	missense	47	exon25			TCCATGGGGATAA	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.2867C>T	17.37:g.40028012G>A	ENSP00000253792:p.Pro956Leu		122	0.0081967213	1		155	0.17	26	NM_001096	186	0.26	48	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408799	0.96072	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89875	-1.62;-1.6;-2.58;-1.6	5.95	5.95	0.96441	Citrate synthase-like, small alpha subdomain (1);Citrate synthase-like, core (1);	0.098863	0.64402	D	0.000001	D	0.95345	0.8489	M	0.87971	2.92	0.80722	D	1	P;D;P;D;P	0.65815	0.801;0.995;0.936;0.99;0.801	B;P;B;D;B	0.66847	0.272;0.866;0.434;0.947;0.355	D	0.95260	0.8368	10	0.87932	D	0	.	20.3645	0.98876	0.0:0.0:1.0:0.0	.	685;1000;1010;946;956	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	956;1010;946;685;946	ENSP00000253792:P956L;ENSP00000345398:P946L;ENSP00000445349:P685L;ENSP00000377474:P946L	ENSP00000253792:P956L	P	-	2	0	ACLY	37281538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.543000	0.98089	2.821000	0.97095	0.561000	0.74099	CCC			0.502	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257465.1		NM_001096		A	40028012	G	A	40028012	3	1	2	1	0	0	0	0	1	0	0	0	143	1232	43	3	458	3	ACLY	17	40028012	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	5838010	40028012	41167198	56	110											
CDC27	996	mdanderson.org	37	chr17	45234325	45234325	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcctcctaataaacttcGaccagtttttggtttatttt	8	19	6	8	1	0	0	0	0	0	0	3	1	2	0	3	2	1	2	3	2	4	9			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:45234325G>A	ENST00000066544.3	-	7	889	c.796C>T	c.(796-798)Cga>Tga	p.R266*	CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R266*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.R205*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.R266*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATAAACTTCGACCAGTTTTT	0.363																																					p.R266X													.	.			0			c.C796T												60	65	63					17																	45234325		2200	4295	6495	SO:0001587	stop_gained	996	exon7			AACTTCGACCAGT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.796C>T	17.37:g.45234325G>A	ENSP00000066544:p.Arg266*		52	0	0		58	0.05	3	NM_001114091	33	0	0	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117088	0.77323	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.	.	.	5.64	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5002	13.5956	0.61987	0.0:0.0:0.8433:0.1567	.	.	.	.	X	266;266;205;266;266	.	ENSP00000066544:R266X	R	-	1	2	CDC27	42589324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.123000	0.71614	1.354000	0.45846	0.460000	0.39030	CGA			0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2				A	45234325	G	A	45234325	4	1	2	1	0	0	0	0	0	1	0	0	3068	1066	37	1	1748	1	CDC27	17	45234325	Nonsense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	5206313	45234325	35960885	57	111											
UTP18	51096	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	49338191	49338191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccgcctgaggctggaggaGgacaaaccggccgtggagcg	10	3	17	11	4	0	1	0	1	0	0	0	5	0	5	4	6	3	1	4	6	2	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:49338191G>A	ENST00000225298.7	+	1	303	c.246G>A	c.(244-246)gaG>gaA	p.E82E	MBTD1_ENST00000376381.2_5'Flank|MBTD1_ENST00000586178.1_5'Flank	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	82					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GGCTGGAGGAGGACAAACCGG	0.721																																					p.E82E													.	.			0			c.G246A												9	13	12					17																	49338191		1878	4056	5934	SO:0001819	synonymous_variant	51096	exon1			GGAGGAGGACAAA	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"WD repeat domain containing"	24274	protein-coding gene	gene with protein product		612816	"WD repeat domain 50"	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.246G>A	17.37:g.49338191G>A			123	0	0		174	0.18	31	NM_016001	70	0.21	15	Q9H4N6	Silent	SNP	ENST00000225298.7	37	CCDS42362.1																																																																																					0.721	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368654.1		NM_016001		A	49338191	G	A	49338191	2	1	2	1	0	0	0	0	0	0	0	1	17122	991	35	3		3	UTP18	17	49338191	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	4103866	49338191	31857019	58	112											
TMC6	11322	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	76117157	76117157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagggcggccaggacaCggcacaggtagggggccccc	7	2	17	15	2	0	0	0	0	0	0	1	1	1	1	4	7	0	3	4	7	1	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr17:76117157C>T	ENST00000590602.1	-	12	1631	c.1472G>A	c.(1471-1473)cGt>cAt	p.R491H	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.R130H|TMC6_ENST00000322933.4_Missense_Mutation_p.R130H|TMC6_ENST00000392467.3_Missense_Mutation_p.R491H|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.R491H|TMC6_ENST00000589553.1_Missense_Mutation_p.R264H			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	491					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGCCAGGACACGGCACAGGTA	0.657																																					p.R491H													.	TMC6	42		0			c.G1472A												33	32	32					17																	76117157		2203	4300	6503	SO:0001583	missense	11322	exon12			AGGACACGGCACA	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1472G>A	17.37:g.76117157C>T	ENSP00000465261:p.Arg491His		65	0	0		82	0.07	6	NM_001127198	87	0	0	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704287	0.30232	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.71698	0.73;0.73;-0.59	3.93	2.87	0.33458	.	0.348546	0.28946	N	0.013629	T	0.64951	0.2645	L	0.43152	1.355	0.25088	N	0.990875	B;D;B;B	0.65815	0.121;0.995;0.322;0.016	B;P;B;B	0.52710	0.017;0.707;0.023;0.006	T	0.56056	-0.8042	10	0.38643	T	0.18	-14.6557	3.5014	0.07674	0.0:0.6047:0.0:0.3953	.	264;491;491;130	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	H	491;491;130	ENSP00000313408:R491H;ENSP00000376260:R491H;ENSP00000313479:R130H	ENSP00000313408:R491H	R	-	2	0	TMC6	73628752	0.731000	0.28111	0.880000	0.34516	0.374000	0.29953	1.100000	0.31025	2.010000	0.58986	0.462000	0.41574	CGT			0.657	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437146.1				T	76117157	C	T	76117157	3	4	2	1	0	0	0	0	1	0	0	0	16012	536	19	1	981	1	TMC6	17	76117157	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10	26778966	76117157	5078053	59	113											
MUC16	94025	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	9048471	9048471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagttggaatacttgtacTgtttactccactagaactag	12	13	8	8	0	0	2	0	0	0	2	1	3	1	3	1	1	4	3	1	1	7	8			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:9048471T>C	ENST00000397910.4	-	5	33363	c.33160A>G	c.(33160-33162)Agt>Ggt	p.S11054G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11056	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						ATACTTGTACTGTTTACTCCA	0.502																																					p.S11054G													.	MUC16	4315		0			c.A33160G												90	81	84					19																	9048471		1906	4134	6040	SO:0001583	missense	94025	exon5			TTGTACTGTTTAC	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.33160A>G	19.37:g.9048471T>C	ENSP00000381008:p.Ser11054Gly		51	0	0		76	0.08	6	NM_024690	0		0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.197	0.035308	0.08148	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	2.75	-0.814	0.10846	.	.	.	.	.	T	0.03434	0.0099	M	0.65498	2.005	.	.	.	B	0.02656	0.0	B	0.08055	0.003	T	0.44817	-0.9303	8	0.87932	D	0	.	0.5026	0.00582	0.21:0.1346:0.2159:0.4395	.	11054	B5ME49	.	G	11054	ENSP00000381008:S11054G	ENSP00000381008:S11054G	S	-	1	0	MUC16	8909471	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.571000	0.23669	-0.297000	0.08934	-0.860000	0.03012	AGT			0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690		C	9048471	T	C	9048471	3	2	2	1	0	0	0	0	1	0	0	0	9989	1580	55	4	10683	4	MUC16	19	9048471	Missense_Mutation	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10		9048471	50080512	60	114											
ALKBH6	84964	broad.mit.edu	37	chr19	36501930	36501930	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcaggaaccatccctcGgggatgaggaagcccacctg	9	5	12	15	2	1	1	1	1	0	0	3	4	2	4	5	4	2	1	5	4	2	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:36501930G>T	ENST00000252984.7	-	6	354	c.202C>A	c.(202-204)Cga>Aga	p.R68R	AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000324444.3_5'Flank|ALKBH6_ENST00000378875.3_Silent_p.R96R|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000485128.1_Silent_p.R68R|ALKBH6_ENST00000486389.1_Silent_p.R45R|SYNE4_ENST00000340477.5_5'Flank			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	68						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCATCCCTCGGGGATGAGGA	0.602																																					p.R96R													.	ALKBH6	16		0			c.C286A												27	24	25					19																	36501930		2203	4299	6502	SO:0001819	synonymous_variant	84964	exon5			TCCCTCGGGGATG	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"Alkylation repair homologs"	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.202C>A	19.37:g.36501930G>T			73	0	0		120	0.03	3	NM_198867	112	0	0	A5LGM8|A6NLP1|A8MU96	Silent	SNP	ENST00000252984.7	37																																																																																						0.602	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000109531.4		NM_032878		T	36501930	G	T	36501930	2	4	2	1	0	0	0	0	0	0	0	1	531	1124	39	1		1	ALKBH6	19	36501930	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	27453459	36501930	22627053	61	115											
MAMSTR	284358	broad.mit.edu	37	chr19	49218600	49218600	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacccctcggcttgggggTccgccctggatccctgtctc	2	9	13	17	3	1	0	0	0	1	0	5	2	3	2	5	5	0	1	5	5	0	1			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:49218600T>G	ENST00000318083.6	-	5	407	c.344A>C	c.(343-345)gAc>gCc	p.D115A	MAMSTR_ENST00000356751.4_Missense_Mutation_p.D12A|MAMSTR_ENST00000419611.1_Missense_Mutation_p.D12A|MAMSTR_ENST00000377367.3_Missense_Mutation_p.D12A|MAMSTR_ENST00000594582.1_Missense_Mutation_p.D12A			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	115	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						GGCTTGGGGGTCCGCCCTGGA	0.622																																					p.D115A													.	MAMSTR	36		0			c.A344C												19	25	23					19																	49218600		2153	4251	6404	SO:0001583	missense	284358	exon5			TGGGGGTCCGCCC	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"MEF2-activating SAP transcriptional regulator"	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.344A>C	19.37:g.49218600T>G	ENSP00000324175:p.Asp115Ala		99	0.0707070707	7		143	0.15	22	NM_001130915	3	0	0	B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	T	6.027	0.373392	0.11409	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	3.6	1.46	0.22682	.	0.521210	0.15792	N	0.244404	T	0.23370	0.0565	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.16988	-1.0384	9	0.20519	T	0.43	-1.6333	3.8888	0.09110	0.0:0.1165:0.2164:0.6672	.	115	Q6ZN01	MASTR_HUMAN	A	115;12;12;12	.	ENSP00000324175:D115A	D	-	2	0	MAMSTR	53910412	0.016000	0.18221	0.004000	0.12327	0.081000	0.17604	0.515000	0.22801	0.239000	0.21243	-0.432000	0.05891	GAC			0.622	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466179.1		NM_182574		G	49218600	T	G	49218600	3	3	2	1	0	0	0	0	1	0	0	0	9225	1667	58	4	927	4	MAMSTR	19	49218600	Missense_Mutation	SNP	T	TCGA-2G-AAEX-01A-11D-A42Y-10	12716670	49218600	9910383	62	116											
LENG9	94059	mdanderson.org	37	chr19	54974333	54974333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggaagcggaagaagCgcacgcggtgctggggcact	9	4	18	10	4	0	1	0	0	0	1	0	3	0	3	1	6	3	3	1	6	3	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:54974333C>T	ENST00000333834.4	-	1	561	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	148							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCGGAAGAAGCGCACGCGGTG	0.721																																					p.R148H													.	.			0			c.G443A												6	7	7					19																	54974333		2095	4163	6258	SO:0001583	missense	94059	exon1			AAGAAGCGCACGC	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.443G>A	19.37:g.54974333C>T	ENSP00000331647:p.Arg148His		10	0	0		14	0.14	2	NM_198988	4	0	0	B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734208	0.48939	.	.	ENSG00000182909	ENST00000333834	T	0.32272	1.46	3.75	3.75	0.43078	.	0.249826	0.35320	U	0.003293	T	0.48696	0.1514	M	0.76574	2.34	0.35152	D	0.769891	D	0.89917	1.0	D	0.75020	0.985	T	0.58544	-0.7618	10	0.34782	T	0.22	-23.2288	7.5425	0.27746	0.0:0.8785:0.0:0.1215	.	148	Q96B70	LENG9_HUMAN	H	148	ENSP00000331647:R148H	ENSP00000331647:R148H	R	-	2	0	LENG9	59666145	1.000000	0.71417	0.885000	0.34714	0.004000	0.04260	1.855000	0.39378	1.823000	0.53134	0.555000	0.69702	CGC			0.721	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000140806.3		NM_198988		T	54974333	C	T	54974333	3	4	2	1	0	0	0	0	1	0	0	0	8740	768	27	1	1066	1	LENG9	19	54974333	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10	5755733	54974333	4154650	63	117											
ZNF814	730051	bcgsc.ca;mdanderson.org	37	chr19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattctccacattcatAaggtcttttcccagtgtgaa	10	13	5	13	0	3	1	1	1	2	0	5	1	4	1	3	1	0	0	3	1	2	5			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	324					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCACATTCATAAGGTCTTTTC	0.358																																					p.Y324H													.	ZNF814	93		0			c.T970C												15	12	13					19																	58385788		688	1564	2252	SO:0001583	missense	730051	exon3			ATTCATAAGGTCT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.970T>C	19.37:g.58385788A>G	ENSP00000410545:p.Tyr324His		127	0	0		180	0.04	7	NM_001144989	11	0	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.644	0.896732	0.17686	.	.	ENSG00000204514	ENST00000435989	T	0.21734	1.99	2.27	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.33485	1.01	0.09310	N	1	B	0.27498	0.18	B	0.22386	0.039	T	0.24368	-1.0162	9	0.72032	D	0.01	.	7.1587	0.25652	0.6135:0.0:0.3865:0.0	.	324	B7Z6K7	ZN814_HUMAN	H	324	ENSP00000410545:Y324H	ENSP00000410545:Y324H	Y	-	1	0	ZNF814	63077600	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.130000	0.15850	-0.181000	0.10619	0.113000	0.15668	TAT			0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708		G	58385788	A	G	58385788	3	3	2	1	0	0	0	0	1	0	0	0	18199	362	13	4	1601	4	ZNF814	19	58385788	Missense_Mutation	SNP	A	TCGA-2G-AAEX-01A-11D-A42Y-10	3411455	58385788	743195	64	118											
STAU1	6780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	47782664	47782664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctgtgagagaagagaCtggttcttgttcagtatttg	11	13	13	4	0	2	3	1	1	1	2	2	5	2	3	0	2	0	4	0	2	3	5			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr20:47782664C>G	ENST00000371856.2	-	3	485	c.75G>C	c.(73-75)caG>caC	p.Q25H	STAU1_ENST00000340954.7_Intron|STAU1_ENST00000371828.3_Intron|STAU1_ENST00000360426.4_Intron|STAU1_ENST00000347458.5_Intron|STAU1_ENST00000371802.1_Intron|STAU1_ENST00000371792.1_Intron	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	25					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGAGAAGAGACTGGTTCTTGT	0.443																																					p.Q25H													.	.			0			c.G75C												201	196	198					20																	47782664		2203	4300	6503	SO:0001583	missense	6780	exon3			AAGAGACTGGTTC		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.75G>C	20.37:g.47782664C>G	ENSP00000360922:p.Gln25His		113	0	0		139	0.2	28	NM_017453	10	0.3	3	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793654	0.50102	.	.	ENSG00000124214	ENST00000371856	T	0.35973	1.28	5.88	4.94	0.65067	.	0.245758	0.38897	N	0.001537	T	0.19725	0.0474	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08617	-1.0713	10	0.02654	T	1	-0.1189	7.6793	0.28505	0.1623:0.7557:0.0:0.082	.	25	O95793	STAU1_HUMAN	H	25	ENSP00000360922:Q25H	ENSP00000360922:Q25H	Q	-	3	2	STAU1	47216071	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.024000	0.30077	1.499000	0.48617	0.655000	0.94253	CAG			0.443	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079633.1		NM_017453		G	47782664	C	G	47782664	3	3	2	1	0	0	0	0	1	0	0	0	15295	564	20	5	1724	5	STAU1	20	47782664	Missense_Mutation	SNP	C	TCGA-2G-AAEX-01A-11D-A42Y-10		47782664	15242856	65	119											
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	60899145	60899145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcttacttgttggaaGgcactgagagggggcagggg	7	8	20	6	0	0	1	0	1	0	1	0	3	0	2	0	8	1	5	0	8	2	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr20:60899145G>A	ENST00000252999.3	-	43	5825	c.5759C>T	c.(5758-5760)cCt>cTt	p.P1920L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1920	Laminin EGF-like 18. {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)			CTTGTTGGAAGGCACTGAGAG	0.687																																					p.P1920L													.	.			0			c.C5759T												19	21	21					20																	60899145		2183	4249	6432	SO:0001583	missense	3911	exon43			TTGGAAGGCACTG	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.5759C>T	20.37:g.60899145G>A	ENSP00000252999:p.Pro1920Leu		79	0	0		82	0.12	10	NM_005560	35	0.23	8	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335080	0.81801	.	.	ENSG00000130702	ENST00000252999	T	0.61040	0.14	4.05	4.05	0.47172	EGF-like, laminin (3);	0.306614	0.35291	U	0.003317	T	0.74007	0.3660	M	0.82056	2.57	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	T	0.78425	-0.2209	10	0.56958	D	0.05	.	14.3513	0.66705	0.0:0.0:1.0:0.0	.	1920	O15230	LAMA5_HUMAN	L	1920	ENSP00000252999:P1920L	ENSP00000252999:P1920L	P	-	2	0	LAMA5	60332540	1.000000	0.71417	0.686000	0.30086	0.839000	0.47603	5.281000	0.65609	1.777000	0.52277	0.478000	0.44815	CCT			0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		A	60899145	G	A	60899145	3	1	2	1	0	0	0	0	1	0	0	0	8624	1000	35	3	5480	3	LAMA5	20	60899145	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	13116481	60899145	2126375	66	120											
KRTAP10-10	353333	mdanderson.org	37	chr21	46058034	46058034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctcctctgccgccccGtgtgctcccgccctgcctgc	0	11	8	22	3	1	0	0	0	1	0	4	0	4	0	8	0	4	1	8	0	0	1	rs142158982	byFrequency	TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr21:46058034G>A	ENST00000380095.1	+	1	762	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	234						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCGCCCCGTGTGCTCCCG	0.692																																					p.V234M													.	.			0			c.G700A							G	,MET/VAL	54,4352		0,54,2149	54	58	57		,700	-2.9	0	21	dbSNP_134	57	16,8582		0,16,4283	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	0,70,6432	AA,AG,GG		0.1861,1.2256,0.5383	,possibly-damaging	,234/252	46058034	70,12934	2203	4299	6502	SO:0001583	missense	353333	exon1			CGCCCCGTGTGCT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.700G>A	21.37:g.46058034G>A	ENSP00000369438:p.Val234Met		77	0.012987013	1		111	0.1	11	NM_181688	0		0		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	94	0.04304029304029304	28	0.056910569105691054	7	0.019337016574585635	29	0.050699300699300696	30	0.0395778364116095	g	0.883	-0.728095	0.03135	0.012256	0.001861	ENSG00000221859	ENST00000380095	T	0.01215	5.16	3.52	-2.88	0.05682	.	.	.	.	.	T	0.00241	0.0007	M	0.71206	2.165	0.09310	N	1	B	0.20459	0.045	B	0.20955	0.032	T	0.38178	-0.9673	9	0.42905	T	0.14	.	5.1831	0.15171	0.3582:0.0:0.4952:0.1466	.	234	P60014	KR10A_HUMAN	M	234	ENSP00000369438:V234M	ENSP00000369438:V234M	V	+	1	0	KRTAP10-10	44882462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.581000	0.02119	-0.564000	0.06070	-1.314000	0.01303	GTG			0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688		A	46058034	G	A	46058034	3	1	2	1	0	0	0	0	1	0	0	0	8521	1145	40	1	702	1	KRTAP10-10	21	46058034	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		46058034	2071861	67	121											
TTC38	55020	mdanderson.org	37	chr22	46664415	46664415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgccgtctgtaggcctGgaaggatgcgaggctcccgc	5	10	14	12	3	2	0	0	0	2	0	3	3	3	2	3	4	2	2	3	4	2	3			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr22:46664415G>T	ENST00000381031.3	+	2	114	c.38G>T	c.(37-39)tGg>tTg	p.W13L	TTC38_ENST00000445282.2_Missense_Mutation_p.W13L	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	13						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CTGTAGGCCTGGAAGGATGCG	0.607																																					p.W13L													.	.			0			c.G38T												41	50	47					22																	46664415		2184	4277	6461	SO:0001583	missense	55020	exon2			AGGCCTGGAAGGA		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.38G>T	22.37:g.46664415G>T	ENSP00000370419:p.Trp13Leu		75	0	0		58	0.05	3	NM_017931	0		0	Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997824	0.93227	.	.	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	D;D;D	0.82619	-1.63;-1.63;-1.63	4.98	4.98	0.66077	.	0.116065	0.64402	D	0.000006	D	0.91737	0.7387	M	0.84511	2.7	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91535	0.5245	10	0.40728	T	0.16	-2.0886	17.6027	0.88029	0.0:0.0:1.0:0.0	.	13;13	E7ES35;Q5R3I4	.;TTC38_HUMAN	L	13	ENSP00000370419:W13L;ENSP00000393960:W13L;ENSP00000410095:W13L	ENSP00000370419:W13L	W	+	2	0	TTC38	45043079	1.000000	0.71417	0.997000	0.53966	0.852000	0.48524	8.694000	0.91293	2.451000	0.82905	0.561000	0.74099	TGG			0.607	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000318469.1		NM_017931		T	46664415	G	T	46664415	3	4	2	1	0	0	0	0	1	0	0	0	16730	1357	47	3	44	3	TTC38	22	46664415	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		46664415	4640151	68	122											
CELSR1	9620	mdanderson.org	37	chr22	46765695	46765695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggggtccaggccgaccGccagtcctgaacacagcggg	7	4	15	15	3	0	1	0	1	0	0	2	2	2	1	6	4	2	0	6	4	1	0			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chr22:46765695G>T	ENST00000262738.3	-	26	7765	c.7766C>A	c.(7765-7767)gCg>gAg	p.A2589E		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2589					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGGCCGACCGCCAGTCCTGA	0.657																																					p.A2589E													.	.			0			c.C7766A												38	38	38					22																	46765695		2202	4300	6502	SO:0001583	missense	9620	exon26			CCGACCGCCAGTC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7766C>A	22.37:g.46765695G>T	ENSP00000262738:p.Ala2589Glu		53	0	0		39	0.08	3	NM_014246	19	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375756	0.82682	.	.	ENSG00000075275	ENST00000262738	T	0.45276	0.9	4.31	4.31	0.51392	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000003	T	0.73313	0.3571	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82649	-0.0353	10	0.87932	D	0	.	16.7527	0.85490	0.0:0.0:1.0:0.0	.	2589	Q9NYQ6	CELR1_HUMAN	E	2589	ENSP00000262738:A2589E	ENSP00000262738:A2589E	A	-	2	0	CELSR1	45144359	1.000000	0.71417	0.451000	0.26982	0.533000	0.34776	7.596000	0.82721	2.096000	0.63516	0.591000	0.81541	GCG			0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		T	46765695	G	T	46765695	3	4	2	1	0	0	0	0	1	0	0	0	3223	1087	38	1	1318	1	CELSR1	22	46765695	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	101280	46765695	4538871	69	123											
SPANXN5	494197	broad.mit.edu	37	chrX	52825639	52825639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctttttcaaactcggttcGaggactaagtccctgtttgg	8	15	9	9	2	2	0	1	0	1	0	5	2	3	1	1	3	1	2	1	3	2	5			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chrX:52825639G>A	ENST00000375511.3	-	2	860	c.108C>T	c.(106-108)ctC>ctT	p.L36L		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	36										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AACTCGGTTCGAGGACTAAGT	0.388																																					p.L36L													.	SPANXN5	12		0			c.C108T												161	138	146					X																	52825639		2203	4300	6503	SO:0001819	synonymous_variant	494197	exon2			CGGTTCGAGGACT		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.108C>T	X.37:g.52825639G>A			178	0	0		254	0.02	6	NM_001009616	1	0	0		Silent	SNP	ENST00000375511.3	37	CCDS35295.1																																																																																					0.388	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056690.2		NM_001009616		A	52825639	G	A	52825639	2	1	2	1	0	0	0	0	0	0	0	1	15017	1045	37	1		1	SPANXN5	23	52825639	Silent	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10		52825639	102444921	70	124											
AR	367	mdanderson.org	37	chrX	66766276	66766276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgggtcaccctcagccGccgcttcctcatcctggcac	4	10	9	18	2	4	0	3	0	1	0	6	0	6	0	5	2	1	3	5	2	0	2			TCGA-2G-AAEX-01A-11D-A42Y-10	TCGA-2G-AAEX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3a994c1-3c17-4147-a513-92bfb4f2b432	3d8c1d4a-4857-40c9-93d8-f7a5300fa83e	g.chrX:66766276G>T	ENST00000374690.3	+	1	1812	c.1288G>T	c.(1288-1290)Gcc>Tcc	p.A430S	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.A430S|AR_ENST00000504326.1_Missense_Mutation_p.A430S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	428	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|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)|RNA polymerase II transcription factor binding (GO:0001085)|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)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ACCCTCAGCCGCCGCTTCCTC	0.721									Androgen Insensitivity Syndrome																												p.A430S													.	.			0			c.G1288T																																									SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TCAGCCGCCGCTT	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1288G>T	X.37:g.66766276G>T	ENSP00000363822:p.Ala430Ser		27	0	0		27	0.11	3	NM_000044	0		0	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	4.575	0.106750	0.08780	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.94650	-3.48;-3.48;-3.48	5.06	0.456	0.16655	.	0.893224	0.09686	N	0.769145	D	0.90283	0.6961	L	0.55213	1.73	0.09310	N	1	B;B;B	0.21520	0.026;0.014;0.057	B;B;B	0.28638	0.092;0.044;0.052	T	0.75988	-0.3123	10	0.18710	T	0.47	.	3.1394	0.06450	0.4144:0.0:0.3955:0.1901	.	430;430;428	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	S	240;430;430;430;422	ENSP00000363822:A430S;ENSP00000421155:A430S;ENSP00000379359:A430S	ENSP00000363822:A430S	A	+	1	0	AR	66683001	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.965000	0.03829	-0.236000	0.09753	0.509000	0.49947	GCC			0.721	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057007.1		NM_000044		T	66766276	G	T	66766276	3	4	2	1	0	0	0	0	1	0	0	0	836	1087	38	1	1290	1	AR	23	66766276	Missense_Mutation	SNP	G	TCGA-2G-AAEX-01A-11D-A42Y-10	13940637	66766276	88504284	71	125											
CASZ1	54897	mdanderson.org	37	chr1	10699456	10699456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatgggaggcccgggcgcgGggccctctgccgcgggctcg	2	5	20	14	6	1	1	0	1	1	0	2	2	1	2	3	6	1	1	3	6	0	0			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr1:10699456G>T	ENST00000377022.3	-	21	5140	c.4823C>A	c.(4822-4824)cCc>cAc	p.P1608H	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1608					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)		CCCGGGCGCGGGGCCCTCTGC	0.746																																					p.P1608H													.	.			0			c.C4823A												4	6	6					1																	10699456		1617	3604	5221	SO:0001583	missense	54897	exon21			GGCGCGGGGCCCT	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.4823C>A	1.37:g.10699456G>T	ENSP00000366221:p.Pro1608His		39	0	0		44	0.07	3	NM_001079843	0		0	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331848	0.41297	.	.	ENSG00000130940	ENST00000377022	.	.	.	3.82	2.87	0.33458	.	0.000000	0.44688	U	0.000435	T	0.50939	0.1645	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.46512	-0.9186	9	0.35671	T	0.21	-11.5107	6.7094	0.23268	0.1004:0.0:0.723:0.1766	.	1608	Q86V15	CASZ1_HUMAN	H	1608	.	ENSP00000366221:P1608H	P	-	2	0	CASZ1	10622043	0.872000	0.30054	0.974000	0.42286	0.462000	0.32619	1.517000	0.35867	1.851000	0.53745	0.195000	0.17529	CCC			0.746	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005673.2		NM_017766		T	10699456	G	T	10699456	3	4	3	1	0	0	0	0	1	0	0	0	2687	1232	43	3	460	3	CASZ1	1	10699456	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		10699456	238551165	1	126											
TCHH	7062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152082981	152082981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctgcagcagCtgctgttccttcctcagctg	3	13	7	18	0	1	0	1	0	0	0	7	0	7	0	6	0	5	6	6	0	0	2			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr1:152082981C>T	ENST00000368804.1	-	2	2711	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	904					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCAGCAGCTGCTGTTCCT	0.572																																					p.Q904Q													.	.			0			c.G2712A												121	133	129					1																	152082981		2123	4240	6363	SO:0001819	synonymous_variant	7062	exon3			CAGCAGCTGCTGT	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2712G>A	1.37:g.152082981C>T			140	0	0		131	0.12	16	NM_007113	0		0	Q5VUI3	Silent	SNP	ENST00000368804.1	37	CCDS41396.1																																																																																					0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036671.2		NM_007113		T	152082981	C	T	152082981	2	4	3	1	0	0	0	0	0	0	0	1	15723	796	28	2		2	TCHH	1	152082981	Silent	SNP	C	TCGA-2G-AAF1-01A-11D-A42Y-10	141383525	152082981	97167640	2	127											
C2orf55	343990	mdanderson.org	37	chr2	99439368	99439368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcgggctcaggcgcCggccctgggggccccttctc	1	9	13	18	3	4	0	1	0	3	0	7	0	4	0	4	5	0	1	4	5	0	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr2:99439368C>T	ENST00000397899.2	-	7	1699	c.1368G>A	c.(1366-1368)ccG>ccA	p.P456P		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	456	Pro-rich.																GCTCAGGCGCCGGCCCTGGGG	0.736																																					p.P456P													.	.			0			c.G1368A												11	14	13					2																	99439368		1802	4020	5822	SO:0001819	synonymous_variant	343990	exon7			AGGCGCCGGCCCT	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.1368G>A	2.37:g.99439368C>T			18	0	0		18	0.11	2	NM_207362	2	0	0		Silent	SNP	ENST00000397899.2	37	CCDS42720.1																																																																																					0.736	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329933.1		NM_207362		T	99439368	C	T	99439368	2	4	3	1	0	0	0	0	0	0	0	1	2178	639	23	1		1	C2orf55	2	99439368	Silent	SNP	C	TCGA-2G-AAF1-01A-11D-A42Y-10		99439368	143760005	3	128											
KCNJ3	3760	mdanderson.org	37	chr2	155555973	155555973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggtctccgcgcagattcGctgcaagctgctcaaagtaa	10	9	10	12	3	2	1	1	0	1	1	4	1	2	1	1	1	3	6	1	1	3	2			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr2:155555973G>T	ENST00000295101.2	+	1	1163	c.686G>T	c.(685-687)cGc>cTc	p.R229L	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Missense_Mutation_p.R229L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	229					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCGCAGATTCGCTGCAAGCTG	0.627																																					p.R229L													.	.			0			c.G686T												25	22	23					2																	155555973		2203	4300	6503	SO:0001583	missense	3760	exon1			AGATTCGCTGCAA	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.686G>T	2.37:g.155555973G>T	ENSP00000295101:p.Arg229Leu		10	0	0		15	0.13	2	NM_001260509	0		0	B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543395	0.96474	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.94613	-3.1;-3.47	5.83	5.83	0.93111	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98317	0.9442	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99167	1.0863	10	0.87932	D	0	.	18.6832	0.91554	0.0:0.0:1.0:0.0	.	229;229	B4DEW7;P48549	.;IRK3_HUMAN	L	229	ENSP00000295101:R229L;ENSP00000438410:R229L	ENSP00000295101:R229L	R	+	2	0	KCNJ3	155264219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.794000	0.99096	2.760000	0.94817	0.561000	0.74099	CGC			0.627	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254890.2		NM_002239		T	155555973	G	T	155555973	3	4	3	1	0	0	0	0	1	0	0	0	8067	1087	38	1	688	1	KCNJ3	2	155555973	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	56116605	155555973	87643400	4	129											
GBX2	2637	mdanderson.org	37	chr2	237076461	237076461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcggcggcagcactaccgGccggtagggcatgaacatgg	8	4	17	12	5	0	1	0	1	0	0	0	1	0	1	2	7	3	4	2	7	3	2			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr2:237076461G>T	ENST00000306318.4	-	1	551	c.154C>A	c.(154-156)Ccg>Acg	p.P52T	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'Flank|GBX2_ENST00000551105.1_Missense_Mutation_p.P52T|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	52					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|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)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		agcACTACCGGCCGGTAGGGC	0.731																																					p.P52T													.	.			0			c.C154A												3	4	4					2																	237076461		1865	3712	5577	SO:0001583	missense	2637	exon1			CTACCGGCCGGTA	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.154C>A	2.37:g.237076461G>T	ENSP00000302251:p.Pro52Thr		36	0	0		42	0.07	3	NM_001485	10	0	0	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371955	0.61624	.	.	ENSG00000168505	ENST00000306318;ENST00000551105	D	0.94046	-3.34	4.73	4.73	0.59995	.	0.069603	0.64402	D	0.000014	D	0.92456	0.7605	N	0.24115	0.695	0.48975	D	0.999737	D;P	0.59357	0.985;0.666	P;B	0.55824	0.785;0.194	D	0.93858	0.7151	10	0.72032	D	0.01	-19.3188	16.4622	0.84064	0.0:0.0:1.0:0.0	.	52;52	F8VY47;P52951	.;GBX2_HUMAN	T	52	ENSP00000302251:P52T	ENSP00000302251:P52T	P	-	1	0	GBX2	236741200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.031000	0.49728	2.176000	0.68965	0.462000	0.41574	CCG			0.731	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257078.3		NM_001485		T	237076461	G	T	237076461	3	4	3	1	0	0	0	0	1	0	0	0	6295	1203	42	2	900	2	GBX2	2	237076461	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	81520488	237076461	6122912	5	130											
TKT	7086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	53264545	53264545	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagatctccgagaaggtGgaatttttggtgtccccatc	9	13	11	8	1	1	3	0	1	1	2	4	5	2	4	3	3	0	0	3	3	3	3			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr3:53264545G>C	ENST00000462138.1	-	8	1123	c.1035C>G	c.(1033-1035)tcC>tcG	p.S345S	TKT_ENST00000423516.1_Silent_p.S353S|TKT_ENST00000296289.6_Silent_p.S298S|TKT_ENST00000423525.2_Silent_p.S345S|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	345					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCGAGAAGGTGGAATTTTTGG	0.597																																					p.S353S	Colon(133;1506 2347 35238 42177)												.	.			0			c.C1059G												119	111	114					3																	53264545		2203	4300	6503	SO:0001819	synonymous_variant	7086	exon9			GAAGGTGGAATTT		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1035C>G	3.37:g.53264545G>C			157	0	0		153	0.07	10	NM_001258028	790	0.29	226	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	CCDS2871.1																																																																																					0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350356.1				C	53264545	G	C	53264545	2	2	3	1	0	0	0	0	0	0	0	1	15957	1335	47	5		5	TKT	3	53264545	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		53264545	144757885	6	131											
SLC9A10	285335	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr3	111997684	111997684	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggactcatccattgtatGgcgtttgcgtatctttggac	6	16	10	9	2	3	0	1	0	2	0	4	2	4	2	1	3	1	3	1	3	2	5			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr3:111997684G>T	ENST00000305815.5	-	4	462	c.210C>A	c.(208-210)gcC>gcA	p.A70A	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Silent_p.A70A	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	70					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TCCATTGTATGGCGTTTGCGT	0.318																																					p.A70A													SLC9A10,NS,carcinoma,-2,1	SLC9A10	-2	1	0			c.C210A												109	117	114					3																	111997684		2202	4299	6501	SO:0001819	synonymous_variant	285335	exon4			TTGTATGGCGTTT	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.210C>A	3.37:g.111997684G>T			81	0	0		61	0.05	3	NM_183061	1	0	0	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	CCDS33817.1																																																																																					0.318	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354066.1		NM_183061		T	111997684	G	T	111997684	2	4	3	1	0	0	0	0	0	0	0	1	14733	1335	47	3		3	SLC9A10	3	111997684	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	58733139	111997684	86024746	7	132											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599320	55599320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattttggtctagccagaGacatcaagaatgattctaat	13	13	9	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	5	rs121913506		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:55599320G>T	ENST00000288135.5	+	17	2543	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816Y			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,0,932	KIT	0	932	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	c.G2446T												144	146	145					4																	55599320		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GCCAGAGACATCA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>T	4.37:g.55599320G>T	ENSP00000288135:p.Asp816Tyr		87	0	0		83	0.12	10	NM_000222	378	0.54	205	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976091	0.92982	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.62	5.62	0.85841	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	0.000011	D	0.87869	0.6286	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.65684	0.937;0.919	D	0.88642	0.3176	10	0.87932	D	0	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	Y	816;812	ENSP00000288135:D816Y;ENSP00000390987:D812Y	ENSP00000288135:D816Y	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55599320	G	T	55599320	3	4	3	1	0	0	0	0	1	0	0	0	8344	942	33	3	2512	3	KIT	4	55599320	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		55599320	135554956	8	133											
BMP2K	55589	mdanderson.org	37	chr4	79792130	79792130	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacagcagcagcagcaAcagcaacagcagcagcagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:79792130A>G	ENST00000335016.5	+	11	1591	c.1425A>G	c.(1423-1425)caA>caG	p.Q475Q	BMP2K_ENST00000502871.1_Silent_p.Q475Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	475	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcaacagcaacagc	0.522																																					p.Q475Q													.	.			0			c.A1425G												21	25	24					4																	79792130		2054	3974	6028	SO:0001819	synonymous_variant	55589	exon11			GCAGCAACAGCAA	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1425A>G	4.37:g.79792130A>G			18	0	0		26	0.15	4	NM_017593	7	0	0	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	a	2.396	-0.338790	0.05243	.	.	ENSG00000138756	ENST00000502613	.	.	.	0.589	0.589	0.17452	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.36817	-0.9732	3	.	.	.	.	.	.	.	.	.	.	.	A	168	.	.	T	+	1	0	BMP2K	80011154	0.993000	0.37304	0.368000	0.25939	0.044000	0.14063	-0.102000	0.10956	-0.619000	0.05648	-1.380000	0.01176	ACA			0.522	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_017593		G	79792130	A	G	79792130	2	3	3	1	0	0	0	0	0	0	0	1	1460	40	2	4		4	BMP2K	4	79792130	Silent	SNP	A	TCGA-2G-AAF1-01A-11D-A42Y-10	24192810	79792130	111362146	9	134											
DSPP	1834	bcgsc.ca	37	chr4	88537285	88537285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgacagcagtgacagcagCgacagcagtgacagcagcga	14	2	14	11	3	0	2	0	2	0	0	0	5	0	2	0	0	7	4	0	0	0	0			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:88537285C>T	ENST00000282478.7	+	4	3504	c.3471C>T	c.(3469-3471)agC>agT	p.S1157S	DSPP_ENST00000399271.1_Silent_p.S1157S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1157	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcgacagcagtg	0.562																																					p.S1157S													.	DSPP	174		0			c.C3471T												46	60	55					4																	88537285		1591	2857	4448	SO:0001819	synonymous_variant	1834	exon5			CAGCAGCGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3471C>T	4.37:g.88537285C>T			129	0.015503876	2		150	0.05	7	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		T	88537285	C	T	88537285	2	4	3	1	0	0	0	0	0	0	0	1	4787	767	27	1		1	DSPP	4	88537285	Silent	SNP	C	TCGA-2G-AAF1-01A-11D-A42Y-10	8745155	88537285	102616991	10	135											
CENPE	1062	broad.mit.edu	37	chr4	104054015	104054015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgaaattcagtctttatGctagggaactcactttctga	10	16	8	7	0	4	2	2	2	2	0	4	3	4	3	0	1	2	2	0	1	4	6			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:104054015G>T	ENST00000265148.3	-	42	6848	c.6759C>A	c.(6757-6759)agC>agA	p.S2253R	CENPE_ENST00000380026.3_Missense_Mutation_p.S2132R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2253	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAGTCTTTATGCTAGGGAACT	0.294																																					p.S2253R													.	CENPE	253		0			c.C6759A												94	99	97					4																	104054015		2202	4294	6496	SO:0001583	missense	1062	exon42			CTTTATGCTAGGG	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6759C>A	4.37:g.104054015G>T	ENSP00000265148:p.Ser2253Arg		165	0	0		201	0.02	5	NM_001813	38	0	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877152	0.33162	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.68765	-0.35;-0.34	5.36	3.5	0.40072	.	.	.	.	.	T	0.55847	0.1946	L	0.40543	1.245	0.19300	N	0.999971	P;P	0.49961	0.662;0.93	B;B	0.41860	0.299;0.368	T	0.41840	-0.9486	9	0.27082	T	0.32	.	10.5097	0.44855	0.0:0.0:0.6484:0.3516	.	2132;2253	Q02224-3;Q02224	.;CENPE_HUMAN	R	2253;2217;2132	ENSP00000265148:S2253R;ENSP00000369365:S2132R	ENSP00000265148:S2253R	S	-	3	2	CENPE	104273464	0.932000	0.31603	0.960000	0.40013	0.203000	0.24098	0.796000	0.26986	1.378000	0.46305	0.643000	0.83706	AGC			0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding						T	104054015	G	T	104054015	3	4	3	1	0	0	0	0	1	0	0	0	3232	1310	46	2	1378	2	CENPE	4	104054015	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	15516730	104054015	87100261	11	136											
NAA15	80155	broad.mit.edu	37	chr4	140264029	140264029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcgcagagagcatcatGgattggttatgctattgctt	9	13	11	8	1	1	1	1	0	0	1	1	3	1	2	1	2	4	5	1	2	2	5			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:140264029G>T	ENST00000296543.5	+	5	775	c.452G>T	c.(451-453)tGg>tTg	p.W151L	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.W151L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	151					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAGCATCATGGATTGGTTAT	0.343																																					p.W151L													.	NAA15	88		0			c.G452T												131	122	125					4																	140264029		1856	4118	5974	SO:0001583	missense	80155	exon5			CATCATGGATTGG	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.452G>T	4.37:g.140264029G>T	ENSP00000296543:p.Trp151Leu		188	0	0		190	0.02	4	NM_057175	61	0	0	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038606	0.93630	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.42131	0.98;0.98	5.25	5.25	0.73442	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79638	-0.1720	10	0.66056	D	0.02	-6.3142	19.4069	0.94651	0.0:0.0:1.0:0.0	.	151	Q9BXJ9	NAA15_HUMAN	L	151;25;151	ENSP00000296543:W151L;ENSP00000381920:W151L	ENSP00000296543:W151L	W	+	2	0	NAA15	140483479	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.075000	0.94004	2.894000	0.99253	0.591000	0.81541	TGG			0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000267839.2		NM_057175		T	140264029	G	T	140264029	3	4	3	1	0	0	0	0	1	0	0	0	10134	1357	47	3	470	3	NAA15	4	140264029	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	36210014	140264029	50890247	12	137											
RAI14	26064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	34823512	34823512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggataattattcacattTccacgagctgagggtcacgg	11	11	10	9	2	2	1	2	1	0	0	3	3	3	2	1	3	1	1	1	3	2	4			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr5:34823512T>C	ENST00000265109.3	+	15	1852	c.1565T>C	c.(1564-1566)tTc>tCc	p.F522S	RAI14_ENST00000397449.1_Missense_Mutation_p.F515S|RAI14_ENST00000428746.2_Missense_Mutation_p.F522S|RAI14_ENST00000503673.1_Missense_Mutation_p.F522S|RAI14_ENST00000515799.1_Missense_Mutation_p.F525S|RAI14_ENST00000512629.1_Missense_Mutation_p.F493S|RAI14_ENST00000506376.1_Missense_Mutation_p.F514S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	522						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)					TATTCACATTTCCACGAGCTG	0.418																																					p.F525S													.	.			0			c.T1574C												64	62	62					5																	34823512		2203	4300	6503	SO:0001583	missense	26064	exon17			CACATTTCCACGA	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.1565T>C	5.37:g.34823512T>C	ENSP00000265109:p.Phe522Ser		106	0	0		126	0.1	12	NM_001145525	44	0.5	22	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	T	4.695	0.129309	0.08981	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.32988	1.46;1.43;1.46;1.46;1.46;1.51;1.49	5.64	5.64	0.86602	.	.	.	.	.	T	0.18635	0.0447	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.16335	-1.0406	9	0.20046	T	0.44	-1.0529	11.0176	0.47698	0.1388:0.0:0.0:0.8612	.	514;493;525;522	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	522;493;522;522;525;514;515	ENSP00000265109:F522S;ENSP00000422377:F493S;ENSP00000388725:F522S;ENSP00000422942:F522S;ENSP00000427123:F525S;ENSP00000423854:F514S;ENSP00000380591:F515S	ENSP00000265109:F522S	F	+	2	0	RAI14	34859269	0.013000	0.17824	0.011000	0.14972	0.064000	0.16182	2.019000	0.41001	2.160000	0.67779	0.454000	0.30748	TTC			0.418	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366786.1		NM_015577		C	34823512	T	C	34823512	3	2	3	1	0	0	0	0	1	0	0	0	13031	1783	62	4	1684	4	RAI14	5	34823512	Missense_Mutation	SNP	T	TCGA-2G-AAF1-01A-11D-A42Y-10		34823512	146091748	13	138											
IQGAP2	10788	mdanderson.org	37	chr5	75969834	75969834	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatccatgagaaattcccCgatgcaacagaagatgagct	14	8	9	10	2	0	4	0	2	0	3	3	7	2	4	3	0	3	2	3	0	3	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr5:75969834C>A	ENST00000274364.6	+	26	3564	c.3267C>A	c.(3265-3267)ccC>ccA	p.P1089P	IQGAP2_ENST00000502745.1_Silent_p.P585P|IQGAP2_ENST00000379730.3_Silent_p.P591P|IQGAP2_ENST00000396234.3_Silent_p.P585P	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1089	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAAATTCCCCGATGCAACAG	0.348																																					p.P1089P													IQGAP2,NS,malignant_melanoma,+1,1	IQGAP2	1	1	0			c.C3267A												100	99	99					5																	75969834		2203	4300	6503	SO:0001819	synonymous_variant	10788	exon26			ATTCCCCGATGCA	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3267C>A	5.37:g.75969834C>A			82	0	0		82	0.05	4	NM_006633	35	0	0	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	CCDS34188.1																																																																																					0.348	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368877.1		NM_006633		A	75969834	C	A	75969834	2	1	3	1	0	0	0	0	0	0	0	1	7830	639	23	1		1	IQGAP2	5	75969834	Silent	SNP	C	TCGA-2G-AAF1-01A-11D-A42Y-10	41146322	75969834	104945426	14	139											
SNCAIP	9627	broad.mit.edu	37	chr5	121758672	121758672	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagtgaagcgggtttcGccactgaaacatcagccaga	11	6	11	13	3	1	3	1	2	0	1	2	3	1	3	3	1	3	1	3	1	2	1	rs147854746	byFrequency	TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr5:121758672G>A	ENST00000261368.8	+	4	502	c.240G>A	c.(238-240)tcG>tcA	p.S80S	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Silent_p.S127S|SNCAIP_ENST00000261367.7_Silent_p.S127S|SNCAIP_ENST00000379536.2_Silent_p.S80S|SNCAIP_ENST00000503116.2_Silent_p.S127S|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	80					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGCGGGTTTCGCCACTGAAAC	0.483													G|||	3	0.000599042	8e-04	0	5008	,	,		17839	0.002		0	False		,,,				2504	0				p.S80S													SNCAIP_ENST00000503116,NS,malignant_melanoma,+1,3	SNCAIP	308	3	0			c.G240A							G		2,4404	4.2+/-10.8	0,2,2201	63	64	63		240	2.9	1	5	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	SNCAIP	NM_005460.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		80/920	121758672	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9627	exon4			GGTTTCGCCACTG	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.240G>A	5.37:g.121758672G>A			240	0	0		234	0.02	5	NM_005460	1	0	0	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	CCDS4131.1																																																																																					0.483	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250888.1				A	121758672	G	A	121758672	2	1	3	1	0	0	0	0	0	0	0	1	14864	1074	38	1		1	SNCAIP	5	121758672	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	45788838	121758672	59156588	15	140											
OR2Y1	134083	mdanderson.org	37	chr5	180166238	180166238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taattatagtataaaaaaggGcaacaaattttccctcacgc	17	11	5	8	1	1	0	1	0	0	0	2	0	2	0	1	1	1	2	1	1	9	7			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr5:180166238G>T	ENST00000307832.2	-	1	861	c.821C>A	c.(820-822)gCc>gAc	p.A274D		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	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)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAAAAAAGGGCAACAAATTT	0.428																																					p.A274D													.	.			0			c.C821A												86	98	94					5																	180166238		2203	4300	6503	SO:0001583	missense	134083	exon1			AAAAGGGCAACAA	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.821C>A	5.37:g.180166238G>T	ENSP00000312403:p.Ala274Asp		61	0	0		48	0.06	3	NM_001001657	0		0	B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181835	0.57800	.	.	ENSG00000174339	ENST00000307832	T	0.00198	8.57	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.514144	0.16252	N	0.222662	T	0.00724	0.0024	M	0.88450	2.955	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41448	-0.9508	10	0.87932	D	0	.	14.873	0.70474	0.0:0.0:1.0:0.0	.	274	Q8NGV0	OR2Y1_HUMAN	D	274	ENSP00000312403:A274D	ENSP00000312403:A274D	A	-	2	0	OR2Y1	180098844	0.853000	0.29707	0.204000	0.23530	0.003000	0.03518	5.043000	0.64208	2.432000	0.82394	0.511000	0.50034	GCC			0.428	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368059.2		XM_068682		T	180166238	G	T	180166238	3	4	3	1	0	0	0	0	1	0	0	0	11052	1203	42	2	118	2	OR2Y1	5	180166238	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	58407566	180166238	749022	16	141											
HIST1H2BO	8348	mdanderson.org	37	chr6	27861278	27861278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgctcctgcccccaaaaAgggctccaagaaagccgtaa	13	6	8	14	1	1	1	0	0	1	1	3	1	3	1	5	1	3	3	5	1	5	1	rs577930162		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr6:27861278A>G	ENST00000303806.4	+	1	76	c.38A>G	c.(37-39)aAg>aGg	p.K13R	HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	13					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										GCCCCCAAAAAGGGCTCCAAG	0.527													A|||	1	0.000199681	0	0	5008	,	,		17449	0		0	False		,,,				2504	0.001				p.K13R													.	.			0			c.A38G												59	63	62					6																	27861278		2203	4300	6503	SO:0001583	missense	8348	exon1			CCAAAAAGGGCTC	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.38A>G	6.37:g.27861278A>G	ENSP00000303408:p.Lys13Arg		86	0	0		54	0.06	3	NM_003527	3	0	0	Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312724	0.40895	.	.	ENSG00000196331	ENST00000303806	T	0.25250	1.81	3.7	3.7	0.42460	Histone-fold (2);	.	.	.	.	T	0.13713	0.0332	M	0.76574	2.34	0.37971	D	0.933296	P	0.41673	0.759	B	0.27500	0.08	T	0.13845	-1.0494	9	0.59425	D	0.04	.	12.181	0.54211	1.0:0.0:0.0:0.0	.	13	P23527	H2B1O_HUMAN	R	13	ENSP00000303408:K13R	ENSP00000303408:K13R	K	+	2	0	HIST1H2BO	27969257	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	8.674000	0.91191	1.910000	0.55303	0.459000	0.35465	AAG			0.527	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040161.1		NM_003527		G	27861278	A	G	27861278	3	3	3	1	0	0	0	0	1	0	0	0	7169	72	3	4	40	4	HIST1H2BO	6	27861278	Missense_Mutation	SNP	A	TCGA-2G-AAF1-01A-11D-A42Y-10		27861278	143253789	17	142											
TSPYL4	23270	mdanderson.org	37	chr6	116574167	116574167	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatgagcctgggggtcttgGcctcggtgccagcggattgg	5	10	17	9	2	1	1	0	1	1	0	2	2	1	2	3	6	3	0	3	6	1	3			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr6:116574167G>T	ENST00000420283.1	-	1	1094	c.1005C>A	c.(1003-1005)ggC>ggA	p.G335G	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	335					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GGGGGTCTTGGCCTCGGTGCC	0.527																																					p.G335G													.	.			0			c.C1005A												80	79	79					6																	116574167		1929	4152	6081	SO:0001819	synonymous_variant	23270	exon1			GTCTTGGCCTCGG		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.1005C>A	6.37:g.116574167G>T			151	0	0		138	0.04	5	NM_021648	57	0	0	B4DYQ2|O94828|Q96GW8	Silent	SNP	ENST00000420283.1	37	CCDS5106.1																																																																																					0.527	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041934.2				T	116574167	G	T	116574167	2	4	3	1	0	0	0	0	0	0	0	1	16685	1190	42	2		2	TSPYL4	6	116574167	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	88712889	116574167	54540900	18	143											
IRF5	3663	mdanderson.org	37	chr7	128588820	128588820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggcccctcctggagcagGccttggtgttggccaggggc	4	7	16	14	0	0	0	0	0	0	0	1	1	1	1	6	7	1	2	6	7	0	2			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr7:128588820G>T	ENST00000402030.2	+	9	1517	c.1445G>T	c.(1444-1446)gGc>gTc	p.G482V	IRF5_ENST00000473745.1_Missense_Mutation_p.G482V|IRF5_ENST00000249375.4_Missense_Mutation_p.G482V|IRF5_ENST00000477535.1_Missense_Mutation_p.G396V|IRF5_ENST00000357234.5_Missense_Mutation_p.G498V	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	482					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						CCTGGAGCAGGCCTTGGTGTT	0.642																																					p.G498V													.	.			0			c.G1493T												54	57	56					7																	128588820		2203	4300	6503	SO:0001583	missense	3663	exon9			GAGCAGGCCTTGG		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.1445G>T	7.37:g.128588820G>T	ENSP00000385352:p.Gly482Val		45	0	0		37	0.08	3	NM_001098629	58	0	0	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450617	0.43531	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.97505	-4.4;-4.37;-4.41;-4.41;-4.41	5.26	3.4	0.38934	.	1.047640	0.07534	N	0.912694	D	0.93743	0.8000	L	0.36672	1.1	0.41426	D	0.987837	B;P;P	0.45902	0.18;0.868;0.763	B;B;B	0.39876	0.056;0.312;0.293	D	0.88112	0.2826	10	0.72032	D	0.01	-0.1384	5.505	0.16848	0.1768:0.1664:0.6568:0.0	.	396;482;498	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	V	498;396;482;482;482;472	ENSP00000349770:G498V;ENSP00000419950:G396V;ENSP00000385352:G482V;ENSP00000249375:G482V;ENSP00000419149:G482V	ENSP00000249375:G482V	G	+	2	0	IRF5	128376056	0.001000	0.12720	0.151000	0.22473	0.587000	0.36485	0.505000	0.22642	0.660000	0.30964	0.655000	0.94253	GGC			0.642	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350934.1		NM_001098627		T	128588820	G	T	128588820	3	4	3	1	0	0	0	0	1	0	0	0	7848	1203	42	2	1523	2	IRF5	7	128588820	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		128588820	30549843	19	144											
PIGO	84720	mdanderson.org	37	chr9	35090665	35090665	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgccatggcacagtaaaAggacctggaagaaaagatat	16	6	11	8	0	0	2	0	0	0	2	0	4	0	4	3	3	1	2	3	3	6	2			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr9:35090665A>G	ENST00000378617.3	-	8	3046	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P	PIGO_ENST00000361778.2_Silent_p.P467P|PIGO_ENST00000341666.3_Silent_p.P884P|PIGO_ENST00000298004.5_Silent_p.P467P	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	884				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8; BAB89338). {ECO:0000305}.	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)			GCACAGTAAAAGGACCTGGAA	0.498																																					p.P884P													.	.			0			c.T2652C												52	51	51					9																	35090665		2203	4300	6503	SO:0001819	synonymous_variant	84720	exon8			AGTAAAAGGACCT	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.2652T>C	9.37:g.35090665A>G			41	0	0		55	0.05	3	NM_032634	93	0	0	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	CCDS6575.1																																																																																					0.498	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052284.1		NM_032634		G	35090665	A	G	35090665	2	3	3	1	0	0	0	0	0	0	0	1	11911	59	3	4		4	PIGO	9	35090665	Silent	SNP	A	TCGA-2G-AAF1-01A-11D-A42Y-10		35090665	106122766	20	145											
AKAP2	11217	mdanderson.org	37	chr9	112899361	112899361	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacagttgctgctgcagAagcagttacagcagcagcag	13	6	13	9	0	0	1	0	0	0	1	0	2	0	2	0	1	9	9	0	1	3	2	rs4978872	byFrequency	TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr9:112899361A>T	ENST00000259318.7	+	2	1051	c.844A>T	c.(844-846)Aag>Tag	p.K282*	AKAP2_ENST00000555236.1_Nonsense_Mutation_p.K513*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.K513*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.K371*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.K371*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.K513*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.K513*	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	282				K -> Q (in Ref. 3; BAG51862/BAG62154 and 6; AAI46864/AAI71800). {ECO:0000305}.						breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						gctgctgcagaagcagttaca	0.552																																					p.K513X													.	.			0			c.A1537T												16	17	17					9																	112899361		2200	4297	6497	SO:0001587	stop_gained	445815	exon8			CTGCAGAAGCAGT	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	ENST00000259318.7:c.844A>T	9.37:g.112899361A>T	ENSP00000259318:p.Lys282*		98	0	0		96	0.03	3	NM_007203	11	0	0	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Nonsense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156686	0.57259	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	.	.	.	5.23	5.23	0.72850	.	0.281421	0.29631	N	0.011602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-9.2901	13.1535	0.59503	0.1603:0.8397:0.0:0.0	.	.	.	.	X	513;513;513;513;371;371;331;282	.	ENSP00000259318:K282X	K	+	1	0	PALM2-AKAP2;AKAP2	111939182	0.880000	0.30214	0.586000	0.28679	0.177000	0.22998	2.142000	0.42177	1.351000	0.45789	-0.121000	0.15023	AAG			0.552	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000346067.3		NM_001004065		T	112899361	A	T	112899361	4	4	3	1	0	0	0	0	0	1	0	0	451	247	9	5	1117	5	AKAP2	9	112899361	Nonsense_Mutation	SNP	A	TCGA-2G-AAF1-01A-11D-A42Y-10	77808696	112899361	28314070	21	146											
SETX	23064	mdanderson.org	37	chr9	135152534	135152534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaacatcgaatggcttctGtctgtctgtaaaaaaaaaaa	17	11	7	6	1	3	1	0	1	3	0	4	2	3	1	0	1	1	2	0	1	8	2	rs398124286		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr9:135152534G>T	ENST00000224140.5	-	22	7030	c.6848C>A	c.(6847-6849)aCa>aAa	p.T2283K	SETX_ENST00000393220.1_Missense_Mutation_p.T2283K|SETX_ENST00000477049.1_5'Flank|SETX_ENST00000372169.2_Missense_Mutation_p.T2283K	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2283					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)		AATGGCTTCTGTCTGTCTGTA	0.358																																					p.T2283K													.	.			0			c.C6848A												101	90	94					9																	135152534		2203	4300	6503	SO:0001583	missense	23064	exon22			GCTTCTGTCTGTC	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.6848C>A	9.37:g.135152534G>T	ENSP00000224140:p.Thr2283Lys		57	0.0526315789	3		52	0.08	4	NM_015046	68	0	0	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930797	0.52866	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	6.17	6.17	0.99709	.	0.071005	0.64402	D	0.000008	D	0.95066	0.8402	L	0.61036	1.89	0.49051	D	0.999747	D;D;D	0.76494	0.958;0.999;0.993	P;D;D	0.74674	0.754;0.984;0.929	D	0.94770	0.7944	10	0.72032	D	0.01	.	14.9696	0.71223	0.0694:0.0:0.9306:0.0	.	2283;2283;2283	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	K	2283;525;2283;2283	ENSP00000224140:T2283K;ENSP00000409143:T525K;ENSP00000361242:T2283K;ENSP00000376913:T2283K	ENSP00000224140:T2283K	T	-	2	0	SETX	134142355	1.000000	0.71417	0.831000	0.32960	0.058000	0.15608	4.540000	0.60664	2.941000	0.99782	0.655000	0.94253	ACA			0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054774.3		NM_015046		T	135152534	G	T	135152534	3	4	3	1	0	0	0	0	1	0	0	0	14164	1377	48	3	1205	3	SETX	9	135152534	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	22253173	135152534	6060897	22	147											
MRPS2	51116	mdanderson.org	37	chr9	138392585	138392585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctcggccgcgctgccccGaatactcggcgcgggtgagc	5	6	14	16	7	0	1	0	1	0	0	3	2	1	1	4	3	3	1	4	3	2	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr9:138392585G>A	ENST00000371785.1	+	2	238	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	C9orf116_ENST00000371789.3_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000241600.5_Missense_Mutation_p.R10Q|C9orf116_ENST00000429260.2_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	10					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GCGCTGCCCCGAATACTCGGC	0.751																																					p.R10Q													.	.			0			c.G29A												4	5	4					9																	138392585		1883	3805	5688	SO:0001583	missense	51116	exon1			TGCCCCGAATACT	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.29G>A	9.37:g.138392585G>A	ENSP00000360850:p.Arg10Gln		27	0	0		23	0.09	2	NM_016034	105	0	0	Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495496	0.44352	.	.	ENSG00000122140	ENST00000371785;ENST00000241600	T;T	0.25749	1.78;1.78	3.17	2.26	0.28386	.	1.050270	0.07583	N	0.920695	T	0.24236	0.0587	L	0.53249	1.67	0.09310	N	1	B	0.25955	0.138	B	0.14578	0.011	T	0.26467	-1.0102	10	0.62326	D	0.03	-7.1171	6.7124	0.23284	0.1448:0.0:0.8552:0.0	.	10	Q9Y399	RT02_HUMAN	Q	10	ENSP00000360850:R10Q;ENSP00000241600:R10Q	ENSP00000241600:R10Q	R	+	2	0	MRPS2	137532406	0.215000	0.23574	0.001000	0.08648	0.007000	0.05969	1.828000	0.39111	0.637000	0.30526	0.491000	0.48974	CGA			0.751	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054998.1				A	138392585	G	A	138392585	3	1	3	1	0	0	0	0	1	0	0	0	9847	1058	37	1	31	1	MRPS2	9	138392585	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	3240051	138392585	2820846	23	148											
MCM10	55388	hgsc.bcm.edu	37	chr10	13230971	13230971	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtccaccttctctggaGgacgaattccaaagaagttt	11	11	9	10	1	1	1	0	0	1	1	4	4	3	3	3	2	1	2	3	2	3	3			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:13230971G>T	ENST00000484800.2	+	10	1412	c.1309G>T	c.(1309-1311)Gga>Tga	p.G437*	MCM10_ENST00000378694.1_Nonsense_Mutation_p.G436*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.G436*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	437					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						CTTCTCTGGAGGACGAATTCC	0.537																																					p.G437X													.	.			0			c.G1309T												131	125	127					10																	13230971		2203	4300	6503	SO:0001587	stop_gained	55388	exon10			TCTGGAGGACGAA	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.1309G>T	10.37:g.13230971G>T	ENSP00000418268:p.Gly437*		84	0	0		100	0.04	4	NM_182751	20	0	0	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	39	7.549423	0.98352	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-18.9984	12.3367	0.55071	0.078:0.0:0.922:0.0	.	.	.	.	X	436;437;437;436	.	ENSP00000354945:G437X	G	+	1	0	MCM10	13270977	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.321000	0.51999	2.747000	0.94245	0.655000	0.94253	GGA			0.537	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000356853.1		NM_182751		T	13230971	G	T	13230971	4	4	3	1	0	0	0	0	0	1	0	0	9401	1001	35	3	1343	3	MCM10	10	13230971	Nonsense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		13230971	122303776	24	149											
ZEB1	6935	mdanderson.org	37	chr10	31816109	31816109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgatgaaggatgacaggGctgaaagtcaagcaagcagc	14	6	14	7	0	2	4	1	4	1	0	2	5	2	5	0	2	3	3	0	2	4	0			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:31816109G>A	ENST00000320985.10	+	9	3402	c.3292G>A	c.(3292-3294)Gct>Act	p.A1098T	ZEB1_ENST00000446923.2_Missense_Mutation_p.A1082T|ZEB1_ENST00000361642.5_Missense_Mutation_p.A1099T|ZEB1_ENST00000560721.2_Missense_Mutation_p.A1078T|ZEB1_ENST00000542815.3_Missense_Mutation_p.A1031T			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1098	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GGATGACAGGGCTGAAAGTCA	0.448																																					p.A1099T	Ovarian(40;423 959 14296 36701 49589)												.	.			0			c.G3295A												125	119	121					10																	31816109		2203	4300	6503	SO:0001583	missense	6935	exon9			GACAGGGCTGAAA	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3292G>A	10.37:g.31816109G>A	ENSP00000319248:p.Ala1098Thr		20	0	0		16	0.13	2	NM_001174096	36	0	0	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686353	0.47991	.	.	ENSG00000148516	ENST00000542879;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12147	3.02;2.72;2.76;2.71;2.76	5.31	5.31	0.75309	.	118.256000	0.00748	N	0.001056	T	0.16727	0.0402	L	0.47716	1.5	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	0.08055	0.003;0.002;0.001;0.001;0.001	T	0.27297	-1.0078	10	0.28530	T	0.3	-3.3217	8.3869	0.32505	0.0779:0.0:0.7672:0.1549	.	1031;1082;1078;1099;1098	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	T	880;1099;1093;1031;1098;1078;617;989;1082	ENSP00000444282:A880T;ENSP00000354487:A1099T;ENSP00000444891:A1031T;ENSP00000319248:A1098T;ENSP00000391612:A1082T	ENSP00000319248:A1098T	A	+	1	0	ZEB1	31856115	0.156000	0.22821	0.009000	0.14445	0.006000	0.05464	2.999000	0.49473	2.477000	0.83638	0.650000	0.86243	GCT			0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000419083.2		NM_030751		A	31816109	G	A	31816109	3	1	3	1	0	0	0	0	1	0	0	0	17646	1203	42	2	3340	2	ZEB1	10	31816109	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	18585138	31816109	103718638	25	150											
KIF5B	3799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	32323677	32323677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtgttccgcaggatcttaTttttttctttttctttttca	5	24	5	7	1	4	0	1	0	3	0	5	1	5	1	1	1	0	2	1	1	2	10			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:32323677T>C	ENST00000302418.4	-	11	1509	c.1052A>G	c.(1051-1053)aAt>aGt	p.N351S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	351					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CAGGATCTTATTTTTTTCTTT	0.343			T	"RET, ALK"	NSCLC																																p.N351S				Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.			0			c.A1052G												64	62	63					10																	32323677		2203	4300	6503	SO:0001583	missense	3799	exon11			ATCTTATTTTTTT	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1052A>G	10.37:g.32323677T>C	ENSP00000307078:p.Asn351Ser		157	0	0		158	0.07	11	NM_004521	148	0.22	33	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070272	0.36566	.	.	ENSG00000170759	ENST00000302418	T	0.72725	-0.68	5.26	5.26	0.73747	.	0.047139	0.85682	D	0.000000	T	0.69043	0.3067	M	0.76002	2.32	0.50039	D	0.999844	B	0.02656	0.0	B	0.04013	0.001	T	0.67150	-0.5743	10	0.45353	T	0.12	.	11.2054	0.48767	0.0:0.0:0.1535:0.8465	.	351	P33176	KINH_HUMAN	S	351	ENSP00000307078:N351S	ENSP00000307078:N351S	N	-	2	0	KIF5B	32363683	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.912000	0.63335	1.971000	0.57363	0.460000	0.39030	AAT			0.343	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047467.1		NM_004521		C	32323677	T	C	32323677	3	2	3	1	0	0	0	0	1	0	0	0	8321	1493	52	4	1899	4	KIF5B	10	32323677	Missense_Mutation	SNP	T	TCGA-2G-AAF1-01A-11D-A42Y-10	507568	32323677	103211070	26	151											
GDF10	2662	mdanderson.org	37	chr10	48438614	48438614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggggccctgtggctgcCggccacatcccggagcaaca	6	4	16	15	3	0	0	0	0	0	0	1	1	1	1	4	6	3	2	4	6	1	0			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:48438614C>T	ENST00000224605.2	-	1	362	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	33					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTGTGGCTGCCGGCCACATCC	0.751																																					p.G33S													.	.			0			c.G97A												3	4	4					10																	48438614		1453	3318	4771	SO:0001583	missense	2662	exon1			GGCTGCCGGCCAC	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.97G>A	10.37:g.48438614C>T	ENSP00000224605:p.Gly33Ser		22	0	0		23	0.09	2	NM_004962	0		0	Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	C	1.770	-0.484665	0.04352	.	.	ENSG00000107623	ENST00000224605	T	0.74209	-0.82	3.99	0.909	0.19332	.	0.705620	0.13016	N	0.420510	T	0.55689	0.1936	N	0.24115	0.695	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.39742	-0.9599	10	0.36615	T	0.2	.	5.7264	0.18015	0.5989:0.2947:0.0:0.1064	.	33	P55107	BMP3B_HUMAN	S	33	ENSP00000224605:G33S	ENSP00000224605:G33S	G	-	1	0	GDF10	48058620	.	.	0.120000	0.21714	0.018000	0.09664	.	.	-0.018000	0.14079	-0.261000	0.10672	GGC			0.751	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047884.1		NM_004962		T	48438614	C	T	48438614	3	4	3	1	0	0	0	0	1	0	0	0	6325	652	23	1	1351	1	GDF10	10	48438614	Missense_Mutation	SNP	C	TCGA-2G-AAF1-01A-11D-A42Y-10	16114937	48438614	87096133	27	152											
VDAC2	7417	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	76970938	76970938	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgacccacggacagactTgcgcgcgtcgtaagtaaagc	10	6	13	12	6	0	1	0	0	0	1	1	3	0	2	1	2	2	2	1	2	3	3			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:76970938T>A	ENST00000332211.6	+	2	235	c.22T>A	c.(22-24)Tgc>Agc	p.C8S	VDAC2_ENST00000535553.1_5'UTR|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.C8S|VDAC2_ENST00000313132.4_5'UTR	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	8					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|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)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CGGACAGACTTGCGCGCGTCG	0.602																																					p.C8S													.	.			0			c.T22A												37	34	35					10																	76970938		2203	4300	6503	SO:0001583	missense	7417	exon2			CAGACTTGCGCGC	BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"Voltage-dependent anion channels"	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.22T>A	10.37:g.76970938T>A	ENSP00000361686:p.Cys8Ser		126	0	0		119	0.13	16	NM_003375	97	0.24	23	Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	37	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	T	7.053	0.564821	0.13498	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000447677	T;T;T;T;T	0.41758	0.99;1.01;1.05;1.01;1.05	5.12	5.12	0.69794	.	3.394500	0.00447	N	0.000088	T	0.49150	0.1540	L	0.34521	1.04	0.80722	D	1	P	0.34662	0.462	P	0.45377	0.478	T	0.06006	-1.0851	10	0.36615	T	0.2	.	11.8816	0.52579	0.0:0.0:0.0:1.0	.	8	P45880	VDAC2_HUMAN	S	8	ENSP00000298468:C8S;ENSP00000443092:C8S;ENSP00000344876:C8S;ENSP00000361686:C8S;ENSP00000401492:C8S	ENSP00000298468:C8S	C	+	1	0	VDAC2	76640944	0.991000	0.36638	0.439000	0.26833	0.694000	0.40290	3.596000	0.54024	2.227000	0.72691	0.533000	0.62120	TGC			0.602	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048792.1		NM_003375		A	76970938	T	A	76970938	3	1	3	1	0	0	0	0	1	0	0	0	17171	1812	63	5	24	5	VDAC2	10	76970938	Missense_Mutation	SNP	T	TCGA-2G-AAF1-01A-11D-A42Y-10	28532324	76970938	58563809	28	153											
ECHS1	1892	mdanderson.org	37	chr10	135180455	135180455	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccatctccatcgccagcGacttcccaacagcacgggtg	9	6	10	16	3	1	0	0	0	1	0	4	2	2	1	4	2	3	1	4	2	1	1	rs200293355		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:135180455G>T	ENST00000368547.3	-	5	912	c.557C>A	c.(556-558)tCg>tAg	p.S186*		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	186					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		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;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CATCGCCAGCGACTTCCCAAC	0.622																																					p.S186X	GBM(132;1720 1771 5373 10277 21402)												ECHS1,colon,carcinoma,0,1	ECHS1	0	1	0			c.C557A												73	56	62					10																	135180455		2202	4300	6502	SO:0001587	stop_gained	1892	exon5			GCCAGCGACTTCC		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.557C>A	10.37:g.135180455G>T	ENSP00000357535:p.Ser186*		26	0	0		44	0.07	3	NM_004092	396	0	0	O00739|Q5VWY1|Q96H54	Nonsense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	G	39	7.682443	0.98431	.	.	ENSG00000127884	ENST00000368547	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8732	0.79141	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000357535:S186X	S	-	2	0	ECHS1	135030445	1.000000	0.71417	0.967000	0.41034	0.558000	0.35554	8.030000	0.88816	2.809000	0.96659	0.650000	0.86243	TCG			0.622	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051156.1				T	135180455	G	T	135180455	4	4	3	1	0	0	0	0	0	1	0	0	4901	1059	37	1	331	1	ECHS1	10	135180455	Nonsense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	58209517	135180455	354292	29	154											
NLRP6	171389	mdanderson.org	37	chr11	281438	281438	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcggctgcatggtttcAgagcgtgtgaagcaggaggc	8	9	15	9	2	1	2	1	1	0	1	2	3	1	3	0	4	3	4	0	4	1	2			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:281438A>G	ENST00000312165.5	+	4	1704	c.1704A>G	c.(1702-1704)tcA>tcG	p.S568S	NLRP6_ENST00000534750.1_Silent_p.S568S	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	568					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)		GCATGGTTTCAGAGCGTGTGA	0.677																																					p.S568S													.	.			0			c.A1704G												18	22	21					11																	281438		2200	4299	6499	SO:0001819	synonymous_variant	171389	exon4			GGTTTCAGAGCGT	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.1704A>G	11.37:g.281438A>G			46	0	0		53	0.08	4	NM_138329	2	0	0	A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	CCDS7693.1																																																																																					0.677	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239283.1		NM_138329		G	281438	A	G	281438	2	3	3	1	0	0	0	0	0	0	0	1	10498	175	7	4		4	NLRP6	11	281438	Silent	SNP	A	TCGA-2G-AAF1-01A-11D-A42Y-10		281438	134725078	30	155											
OR51G2	81282	mdanderson.org	37	chr11	4936427	4936427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatgagtgctacactaCgacccagagagaccaggcca	16	4	10	11	1	0	3	0	1	0	2	0	6	0	3	3	1	3	1	3	1	4	2	rs374071063		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:4936427C>A	ENST00000322013.3	-	1	495	c.467G>T	c.(466-468)cGt>cTt	p.R156L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	156						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(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTACACTACGACCCAGAGA	0.473																																					p.R156L													.	.			0			c.G467T												69	72	71					11																	4936427		2201	4298	6499	SO:0001583	missense	81282	exon1			ACACTACGACCCA	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"GPCR / Class A : Olfactory receptors"	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.467G>T	11.37:g.4936427C>A	ENSP00000322593:p.Arg156Leu		42	0	0		53	0.06	3	NM_001005238	0		0	Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648202	0.47258	.	.	ENSG00000176893	ENST00000322013	T	0.30981	1.51	5.58	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.58637	0.2136	M	0.89095	3.005	0.22142	N	0.999331	D	0.62365	0.991	D	0.65874	0.939	T	0.58103	-0.7695	10	0.72032	D	0.01	.	12.4631	0.55743	0.0:0.8328:0.1672:0.0	.	156	Q8NGK0	O51G2_HUMAN	L	156	ENSP00000322593:R156L	ENSP00000322593:R156L	R	-	2	0	OR51G2	4893003	0.003000	0.15002	0.146000	0.22360	0.308000	0.27856	1.456000	0.35201	1.586000	0.49944	0.655000	0.94253	CGT			0.473	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142174.1		NM_001005238		A	4936427	C	A	4936427	3	1	3	1	0	0	0	0	1	0	0	0	11116	536	19	1	481	1	OR51G2	11	4936427	Missense_Mutation	SNP	C	TCGA-2G-AAF1-01A-11D-A42Y-10	4654989	4936427	130070089	31	156											
COMMD9	29099	hgsc.bcm.edu;mdanderson.org	37	chr11	36310946	36310946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgctgcaaaatgctccGctgtcagggcagccatcttg	8	9	13	11	1	2	0	1	0	1	0	3	1	3	1	2	2	4	5	2	2	2	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:36310946G>T	ENST00000263401.5	-	1	33	c.17C>A	c.(16-18)gCg>gAg	p.A6E	COMMD9_ENST00000532705.1_Missense_Mutation_p.A6E|COMMD9_ENST00000452374.2_Missense_Mutation_p.A6E	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	6										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				AAAATGCTCCGCTGTCAGGGC	0.627																																					p.A6E													.	.			0			c.C17A												40	26	31					11																	36310946		2131	4119	6250	SO:0001583	missense	29099	exon1			TGCTCCGCTGTCA	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.17C>A	11.37:g.36310946G>T	ENSP00000263401:p.Ala6Glu		64	0	0		53	0.08	4	NM_014186	42	0	0	E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	CCDS7900.1	.	.	.	.	.	.	.	.	.	.	G	3.385	-0.125465	0.06795	.	.	ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374;ENST00000532705	.	.	.	4.94	4.03	0.46877	.	0.794537	0.11943	N	0.514458	T	0.16769	0.0403	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.24920	0.001;0.114;0.0	B;B;B	0.28011	0.001;0.085;0.0	T	0.20338	-1.0278	9	0.08179	T	0.78	-27.6213	10.7275	0.46077	0.0897:0.0:0.9103:0.0	.	6;6;6	B4DIH0;Q9P000-2;Q9P000	.;.;COMD9_HUMAN	E	6	.	ENSP00000263401:A6E	A	-	2	0	COMMD9	36267522	0.000000	0.05858	0.006000	0.13384	0.128000	0.20619	0.113000	0.15499	1.288000	0.44600	0.655000	0.94253	GCG			0.627	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389196.1		NM_014186		T	36310946	G	T	36310946	3	4	3	1	0	0	0	0	1	0	0	0	3725	1087	38	1	603	1	COMMD9	11	36310946	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	31374519	36310946	98695570	32	157											
IFT46	56912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	118416169	118416169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggaaaagagcagatggagGgactggatccgactcttgta	13	7	15	6	1	1	2	0	0	1	2	2	7	2	6	1	4	1	2	1	4	3	2			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:118416169G>A	ENST00000264021.3	-	11	1192	c.774C>T	c.(772-774)tcC>tcT	p.S258S	TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000264020.2_Silent_p.S309S|IFT46_ENST00000530872.1_Intron|TMEM25_ENST00000442938.2_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	258					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						GCAGATGGAGGGACTGGATCC	0.468																																					p.S309S													.	.			0			c.C927T												125	126	126					11																	118416169		2200	4295	6495	SO:0001819	synonymous_variant	56912	exon12			ATGGAGGGACTGG	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.774C>T	11.37:g.118416169G>A			109	0	0		94	0.11	10	NM_020153	95	0.21	20	A8K0F6|Q9H6V5	Silent	SNP	ENST00000264021.3	37	CCDS53718.1																																																																																					0.468	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389627.1		NM_020153		A	118416169	G	A	118416169	2	1	3	1	0	0	0	0	0	0	0	1	7575	1219	43	3		3	IFT46	11	118416169	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	82105223	118416169	16590347	33	158											
PHLDB1	23187	mdanderson.org	37	chr11	118514575	118514575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttccccggacccgcagcGgccccctcccctcctcctct	2	7	6	26	3	1	0	0	0	1	0	5	1	5	1	10	2	1	1	10	2	0	1	rs145786415		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:118514575G>T	ENST00000361417.2	+	15	3346	c.2935G>T	c.(2935-2937)Ggc>Tgc	p.G979C	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G932C|PHLDB1_ENST00000527898.1_Missense_Mutation_p.G15C|PHLDB1_ENST00000524713.1_Missense_Mutation_p.G122C|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	979										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GACCCGCAGCGGccccctccc	0.647																																					p.G979C													.	.			0			c.G2935T												34	40	37					11																	118514575		2200	4295	6495	SO:0001583	missense	23187	exon14			CGCAGCGGCCCCC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2935G>T	11.37:g.118514575G>T	ENSP00000354498:p.Gly979Cys		57	0	0		54	0.06	3	NM_001144758	66	0	0	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686202	0.68157	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.53857	0.96;1.39;0.64;0.6	5.3	4.39	0.52855	.	0.330189	0.29159	N	0.012980	T	0.57829	0.2080	L	0.29908	0.895	0.36500	D	0.868943	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;0.997	D;D;D;D;D;D;P	0.97110	1.0;0.98;0.934;0.934;0.997;0.959;0.862	T	0.64339	-0.6431	10	0.56958	D	0.05	-15.2208	9.7089	0.40233	0.1554:0.0:0.8446:0.0	.	117;122;343;723;932;932;979	B7Z2B9;B4DK17;B0YJ65;Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;.;.;.;PHLB1_HUMAN	C	979;738;343;932;15;122	ENSP00000354498:G979C;ENSP00000348359:G932C;ENSP00000435388:G15C;ENSP00000434905:G122C	ENSP00000348359:G932C	G	+	1	0	PHLDB1	118019785	0.996000	0.38824	0.956000	0.39512	0.829000	0.46940	3.088000	0.50175	2.478000	0.83669	0.655000	0.94253	GGC			0.647	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389279.1		NM_015157		T	118514575	G	T	118514575	3	4	3	1	0	0	0	0	1	0	0	0	11868	1116	39	1	2985	1	PHLDB1	11	118514575	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	98406	118514575	16491941	34	159											
TECTA	7007	broad.mit.edu	37	chr11	120989053	120989053	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaggtgttttgggatgacTtgaactgcaccgtcaagtgc	8	11	15	7	1	1	2	1	2	0	0	1	4	1	4	1	3	3	2	1	3	2	3			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:120989053T>C	ENST00000392793.1	+	7	1100	c.829T>C	c.(829-831)Ttg>Ctg	p.L277L	TECTA_ENST00000264037.2_Silent_p.L277L			O75443	TECTA_HUMAN	tectorin alpha	277	VWFC.				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)		TTGGGATGACTTGAACTGCAC	0.517																																					p.L277L													.	TECTA	329		0			c.T829C												83	78	80					11																	120989053		2203	4299	6502	SO:0001819	synonymous_variant	7007	exon6			GATGACTTGAACT	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.829T>C	11.37:g.120989053T>C			127	0	0		130	0.03	4	NM_005422	2	0	0		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																					0.517	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313850.1		NM_005422		C	120989053	T	C	120989053	2	2	3	1	0	0	0	0	0	0	0	1	15770	1606	56	4		4	TECTA	11	120989053	Silent	SNP	T	TCGA-2G-AAF1-01A-11D-A42Y-10	2474478	120989053	14017463	35	160											
KRT73	319101	mdanderson.org	37	chr12	53002214	53002214	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgtgcctgccatcccGgccatggagctgttgatgac	5	9	12	15	1	0	2	0	2	0	0	1	3	1	3	6	2	3	2	6	2	0	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr12:53002214G>T	ENST00000305748.3	-	9	1423	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	463	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCCATCCCGGCCATGGAGC	0.622																																					p.A463A													KRT73,right_lower_lobe,carcinoma,0,1	KRT73	0	1	0			c.C1389A												38	36	37					12																	53002214		2203	4300	6503	SO:0001819	synonymous_variant	319101	exon9			CATCCCGGCCATG	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1389C>A	12.37:g.53002214G>T			42	0	0		39	0.08	3	NM_175068	0		0	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																					0.622	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405700.1		NM_175068		T	53002214	G	T	53002214	2	4	3	1	0	0	0	0	0	0	0	1	8501	1103	39	1		1	KRT73	12	53002214	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		53002214	80849681	36	161											
RAP1B	5908	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	69050092	69050092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgtatttttaggttccaAtgattcttgttggtaataag	12	18	8	3	0	1	1	0	1	1	0	2	1	2	1	1	2	0	4	1	2	6	10	rs372360254		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr12:69050092A>G	ENST00000250559.9	+	6	562	c.331A>G	c.(331-333)Atg>Gtg	p.M111V	RAP1B_ENST00000450214.2_Missense_Mutation_p.M69V|RAP1B_ENST00000539091.1_Missense_Mutation_p.M69V|RAP1B_ENST00000393436.5_Missense_Mutation_p.M111V|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000537460.1_Missense_Mutation_p.M111V|RAP1B_ENST00000378985.3_Missense_Mutation_p.M45V|RAP1B_ENST00000541216.1_Missense_Mutation_p.M111V|RAP1B_ENST00000542145.1_Missense_Mutation_p.M64V|RAP1B_ENST00000543393.1_Missense_Mutation_p.M45V|RAP1B_ENST00000341355.5_Missense_Mutation_p.M111V|RAP1B_ENST00000540209.1_Missense_Mutation_p.M92V	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	111					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TTAGGTTCCAATGATTCTTGT	0.303																																					p.M111V													.	.			0			c.A331G							A	VAL/MET,VAL/MET	1,4405		0,1,2202	94	96	96		331,331	5.2	1	12		96	0,8598		0,0,4299	no	missense,missense	RAP1B	NM_001010942.1,NM_015646.4	21,21	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	111/185,111/185	69050092	1,13003	2203	4299	6502	SO:0001583	missense	5908	exon6			GTTCCAATGATTC		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.331A>G	12.37:g.69050092A>G	ENSP00000250559:p.Met111Val		222	0	0		200	0.08	16	NM_001010942	96	0.19	18	B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757159	0.69648	2.27E-4	0.0	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000538980;ENST00000543393;ENST00000453560;ENST00000378985;ENST00000540209;ENST00000540781;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000456697;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77229	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-1.08;-0.22;-1.08;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.2	5.2	0.72013	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	N	0.05414	-0.055	0.80722	D	1	B;B;P;P	0.40619	0.417;0.201;0.724;0.552	P;B;P;P	0.51193	0.491;0.088;0.662;0.586	T	0.69982	-0.4997	9	.	.	.	.	15.7732	0.78187	1.0:0.0:0.0:0.0	.	64;69;92;111	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	V	111;111;111;111;111;69;111;60;45;111;45;92;111;45;69;64;111;111	ENSP00000250559:M111V;ENSP00000377085:M111V;ENSP00000401095:M111V;ENSP00000441275:M111V;ENSP00000439966:M111V;ENSP00000399986:M69V;ENSP00000437415:M111V;ENSP00000444467:M60V;ENSP00000445090:M45V;ENSP00000444060:M111V;ENSP00000368270:M45V;ENSP00000446318:M92V;ENSP00000440466:M111V;ENSP00000443775:M45V;ENSP00000444830:M69V;ENSP00000440014:M64V;ENSP00000443851:M111V	.	M	+	1	0	RAP1B	67336359	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.871000	0.92346	2.261000	0.74972	0.459000	0.35465	ATG			0.303	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257821.3		NM_001010942		G	69050092	A	G	69050092	3	3	3	1	0	0	0	0	1	0	0	0	13059	101	4	4	349	4	RAP1B	12	69050092	Missense_Mutation	SNP	A	TCGA-2G-AAF1-01A-11D-A42Y-10	16047878	69050092	64801803	37	162											
KCTD12	115207	mdanderson.org	37	chr13	77459340	77459340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacgtactcggtgtagctgGtccagatcttgtcctcgctc	6	12	11	12	3	1	2	0	0	1	2	6	2	3	2	2	2	2	4	2	2	2	3			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr13:77459340G>T	ENST00000377474.2	-	1	1185	c.944C>A	c.(943-945)aCc>aAc	p.T315N	KCTD12_ENST00000317765.2_Missense_Mutation_p.T315N|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	315					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GGTGTAGCTGGTCCAGATCTT	0.632											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T315N													.	.			0			c.C944A												76	61	66					13																	77459340		2203	4300	6503	SO:0001583	missense	115207	exon1			TAGCTGGTCCAGA	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.944C>A	13.37:g.77459340G>T	ENSP00000366694:p.Thr315Asn		48	0	0	1175	43	0.07	3	NM_138444	51	0	0		Missense_Mutation	SNP	ENST00000377474.2	37	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744838	0.49151	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.41065	1.01;1.01	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.27054	-1.0085	10	0.07175	T	0.84	.	17.9207	0.88965	0.0:0.0:1.0:0.0	.	315	Q96CX2	KCD12_HUMAN	N	315	ENSP00000366694:T315N;ENSP00000317141:T315N	ENSP00000317141:T315N	T	-	2	0	KCTD12	76357341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.494000	0.73661	2.399000	0.81585	0.462000	0.41574	ACC			0.632	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045309.2		NM_138444		T	77459340	G	T	77459340	3	4	3	1	0	0	0	0	1	0	0	0	8114	1261	44	3	37	3	KCTD12	13	77459340	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		77459340	37710538	38	163											
NIN	51199	mdanderson.org	37	chr14	51210176	51210176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactttaagctcgcactCtgatgttcccaggatttctg	7	15	9	10	1	2	2	0	2	2	0	4	3	3	3	1	1	1	3	1	1	1	4			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr14:51210176C>A	ENST00000382041.3	-	24	5449	c.5259G>T	c.(5257-5259)caG>caT	p.Q1753H	NIN_ENST00000382043.4_Missense_Mutation_p.Q1040H|NIN_ENST00000453196.1_Missense_Mutation_p.Q1753H|NIN_ENST00000389868.3_Missense_Mutation_p.Q1040H|NIN_ENST00000324330.9_Missense_Mutation_p.Q1753H|NIN_ENST00000530997.2_Missense_Mutation_p.Q1753H|NIN_ENST00000245441.5_Missense_Mutation_p.Q1753H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1753					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)					AGCTCGCACTCTGATGTTCCC	0.423			T	PDGFRB	MPD																																p.Q1753H				Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.			0			c.G5259T												197	171	180					14																	51210176		2203	4300	6503	SO:0001583	missense	51199	exon24			CGCACTCTGATGT	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.5259G>T	14.37:g.51210176C>A	ENSP00000371472:p.Gln1753His		100	0	0		102	0.05	5	NM_020921	26	0	0	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.31|13.31	2.199062|2.199062	0.38806|0.38806	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T;T;T	.|0.69175	.|-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.36|5.36	1.73|1.73	0.24493|0.24493	.|.	.|0.120370	.|0.56097	.|D	.|0.000024	.|T	.|0.74419	.|0.3714	M|M	0.71581|0.71581	2.175|2.175	0.24736|0.24736	N|N	0.993064|0.993064	.|D;D;D;D;D	.|0.69078	.|0.996;0.984;0.963;0.997;0.963	.|D;D;P;D;P	.|0.65773	.|0.938;0.914;0.735;0.929;0.735	.|T	.|0.64411	.|-0.6414	.|10	.|0.25751	.|T	.|0.34	-7.4903|-7.4903	9.271|9.271	0.37670|0.37670	0.0:0.708:0.0:0.292|0.0:0.708:0.0:0.292	.|.	.|1759;1753;1753;1040;1753	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	X|H	1244|1753;1736;1040;1040;1759;1753;1753;1753	.|ENSP00000245441:Q1753H;ENSP00000374518:Q1040H;ENSP00000371474:Q1040H;ENSP00000371472:Q1753H;ENSP00000324210:Q1753H;ENSP00000412391:Q1753H	.|ENSP00000245441:Q1753H	E|Q	-|-	1|3	0|2	NIN|NIN	50279926|50279926	0.996000|0.996000	0.38824|0.38824	0.054000|0.054000	0.19295|0.19295	0.359000|0.359000	0.29487|0.29487	0.619000|0.619000	0.24388|0.24388	0.167000|0.167000	0.19631|0.19631	-0.440000|-0.440000	0.05779|0.05779	GAG|CAG			0.423	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000395207.2		NM_182946		A	51210176	C	A	51210176	3	1	3	1	0	0	0	0	1	0	0	0	10434	912	32	3	1322	3	NIN	14	51210176	Missense_Mutation	SNP	C	TCGA-2G-AAF1-01A-11D-A42Y-10		51210176	56139364	39	164											
TSHR	7253	mdanderson.org	37	chr14	81534631	81534631	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgactctgcagcagctGgaatcacactccttctacaa	11	10	8	12	0	3	1	1	1	2	0	4	3	4	2	1	1	4	3	1	1	3	2	rs538572108		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr14:81534631G>T	ENST00000541158.2	+	4	598	c.276G>T	c.(274-276)ctG>ctT	p.L92L	TSHR_ENST00000554435.1_Silent_p.L92L|TSHR_ENST00000554263.1_Silent_p.L92L|TSHR_ENST00000298171.2_Silent_p.L92L|TSHR_ENST00000342443.6_Silent_p.L92L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	92					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)	TGCAGCAGCTGGAATCACACT	0.368			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.L92L			yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	TSHR_ENST00000554435,NS,carcinoma,+1,2	TSHR_ENST00000554435	1	2	0			c.G276T												121	105	111					14																	81534631		2203	4300	6503	SO:0001819	synonymous_variant	7253	exon3			GCAGCTGGAATCA	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.276G>T	14.37:g.81534631G>T			57	0	0		50	0.06	3	NM_001018036	1	0	0	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																					0.368	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413364.1		NM_000369		T	81534631	G	T	81534631	2	4	3	1	0	0	0	0	0	0	0	1	16646	1335	47	3		3	TSHR	14	81534631	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	30324455	81534631	25814909	40	165											
C15orf56	644809	mdanderson.org	37	chr15	40544585	40544585	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccagggcccggaggcgAagggcgggcgggaactgggg	7	1	23	10	4	0	0	0	0	0	0	0	3	0	2	2	9	1	0	2	9	2	0			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr15:40544585A>G	ENST00000319503.3	-	2	408	c.387T>C	c.(385-387)ctT>ctC	p.L129L	C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000560346.1_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	129										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		CCCGGAGGCGAAGGGCGGGCG	0.726																																					p.L129L													.	.			0			c.T387C												8	11	10					15																	40544585		2138	4208	6346	SO:0001819	synonymous_variant	644809	exon2			GAGGCGAAGGGCG		CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.387T>C	15.37:g.40544585A>G			12	0.0833333333	1		18	0.17	3	NM_001039905	0		0		Silent	SNP	ENST00000319503.3	37	CCDS32197.1																																																																																					0.726	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418370.2		NM_001039905		G	40544585	A	G	40544585	2	3	3	1	0	0	0	0	0	0	0	1	1806	233	9	4		4	C15orf56	15	40544585	Silent	SNP	A	TCGA-2G-AAF1-01A-11D-A42Y-10		40544585	61986807	41	166											
RFX7	64864	broad.mit.edu	37	chr15	56388298	56388298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatgctcatctgatgatGtttcgggttccactttgact	7	15	10	9	1	2	3	1	3	1	0	4	4	3	4	1	2	1	3	1	2	0	3	rs202048055		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr15:56388298G>T	ENST00000559447.2	-	9	1608	c.1337C>A	c.(1336-1338)aCa>aAa	p.T446K	RFX7_ENST00000422057.1_Missense_Mutation_p.T446K|RFX7_ENST00000423270.1_Missense_Mutation_p.T543K|RFX7_ENST00000317318.6_Missense_Mutation_p.T543K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	446					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGATGATGTTTCGGGTTC	0.517																																					p.T543K													.	RFX7	170		0			c.C1628A												62	60	61					15																	56388298		1997	4166	6163	SO:0001583	missense	64864	exon9			GATGATGTTTCGG			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1337C>A	15.37:g.56388298G>T	ENSP00000453281:p.Thr446Lys		120	0	0		143	0.04	6	NM_022841	22	0	0	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	G	9.949	1.219692	0.22373	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.50813	0.73;0.73;0.73	5.09	-0.982	0.10266	.	0.745223	0.12331	N	0.478366	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.13469	-1.0508	10	0.52906	T	0.07	1.5738	2.2168	0.03962	0.2797:0.2639:0.353:0.1034	.	446;446	Q2KHR2;C9JU50	RFX7_HUMAN;.	K	446;543;543	ENSP00000387504:T446K;ENSP00000313299:T543K;ENSP00000397644:T543K	ENSP00000313299:T543K	T	-	2	0	RFX7	54175590	0.001000	0.12720	0.005000	0.12908	0.934000	0.57294	0.070000	0.14573	0.087000	0.17167	-0.140000	0.14226	ACA			0.517	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding		OTTHUMT00000418841.3		NM_022841		T	56388298	G	T	56388298	3	4	3	1	0	0	0	0	1	0	0	0	13291	1377	48	3	2758	3	RFX7	15	56388298	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	15843713	56388298	46143094	42	167											
CASKIN1	57524	mdanderson.org	37	chr16	2229742	2229742	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctcgggcgggggcaatggGggtaggtgcgccaggtcggt	4	6	21	10	4	0	0	0	0	0	0	2	0	0	0	2	8	1	2	2	8	2	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr16:2229742G>T	ENST00000343516.6	-	18	3719	c.3627C>A	c.(3625-3627)ccC>ccA	p.P1209P	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1209	Pro-rich.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGGGCAATGGGGGTAGGTGCG	0.766																																					p.P1209P													.	.			0			c.C3627A												3	4	3					16																	2229742		1380	3187	4567	SO:0001819	synonymous_variant	57524	exon18			CAATGGGGGTAGG	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.3627C>A	16.37:g.2229742G>T			18	0	0		12	0.17	2	NM_020764	0		0	Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																					0.766	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435055.1		NM_020764		T	2229742	G	T	2229742	2	4	3	1	0	0	0	0	0	0	0	1	2668	1219	43	3		3	CASKIN1	16	2229742	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		2229742	88125011	43	168											
ABCA3	21	mdanderson.org	37	chr16	2339582	2339582	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggcagggagctggatGgcctggatgtccatactgct	7	9	16	9	0	0	0	0	0	0	0	1	3	1	3	2	5	4	4	2	5	1	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr16:2339582G>T	ENST00000301732.5	-	20	3253	c.2553C>A	c.(2551-2553)gcC>gcA	p.A851A	ABCA3_ENST00000382381.3_Silent_p.A793A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	851					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)	GGAGCTGGATGGCCTGGATGT	0.667																																					p.A851A													.	.			0			c.C2553A												33	26	28					16																	2339582		2179	4272	6451	SO:0001819	synonymous_variant	21	exon20			CTGGATGGCCTGG	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.2553C>A	16.37:g.2339582G>T			43	0	0		52	0.06	3	NM_001089	26	0	0	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																					0.667	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250784.2		NM_001089		T	2339582	G	T	2339582	2	4	3	1	0	0	0	0	0	0	0	1	33	1335	47	3		3	ABCA3	16	2339582	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	109840	2339582	88015171	44	169											
DNAH3	55567	hgsc.bcm.edu;broad.mit.edu	37	chr16	21073932	21073932	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagcacttcttcaagtgCggctgcactcggagagggtc	9	9	12	11	2	3	1	2	0	1	1	5	2	3	1	0	3	3	3	0	3	2	2	rs374099468		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr16:21073932C>T	ENST00000261383.3	-	25	3590	c.3591G>A	c.(3589-3591)ccG>ccA	p.P1197P	DNAH3_ENST00000415178.1_Silent_p.P1197P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1197	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)		TCTTCAAGTGCGGCTGCACTC	0.433													C|||	1	0.000199681	0	0	5008	,	,		21604	0		0.001	False		,,,				2504	0				p.P1197P													.	.			0			c.G3591A							C		3,4399	6.2+/-15.9	0,3,2198	93	87	89		3591	-2.6	1	16		89	0,8600		0,0,4300	no	coding-synonymous	DNAH3	NM_017539.1		0,3,6498	TT,TC,CC		0.0,0.0682,0.0231		1197/4117	21073932	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	55567	exon25			CAAGTGCGGCTGC	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.3591G>A	16.37:g.21073932C>T			121	0	0		118	0.04	5	NM_017539	1	0	0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																					0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207361.1		NM_017539		T	21073932	C	T	21073932	2	4	3	1	0	0	0	0	0	0	0	1	4608	755	27	1		1	DNAH3	16	21073932	Silent	SNP	C	TCGA-2G-AAF1-01A-11D-A42Y-10	18734350	21073932	69280821	45	170											
ATP8B1	5205	mdanderson.org	37	chr18	55335769	55335769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatagctgtagctcccaGgagctagaatgtatattaaa	14	12	8	7	0	1	1	1	0	0	1	2	2	2	2	1	1	3	5	1	1	9	7			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr18:55335769G>T	ENST00000283684.4	-	18	2100	c.2101C>A	c.(2101-2103)Ctg>Atg	p.L701M	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.L701M|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	701					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTAGCTCCCAGGAGCTAGAAT	0.363																																					p.L701M													.	.			0			c.C2101A												80	71	74					18																	55335769		2203	4300	6503	SO:0001583	missense	5205	exon19			CTCCCAGGAGCTA	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2101C>A	18.37:g.55335769G>T	ENSP00000283684:p.Leu701Met		68	0	0		61	0.05	3	NM_005603	11	0	0	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253748	0.59212	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.73469	-0.75;-0.75	5.89	-4.84	0.03151	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.075782	0.56097	D	0.000040	D	0.84552	0.5497	M	0.88450	2.955	0.30623	N	0.75829	D	0.63880	0.993	D	0.64877	0.93	D	0.84821	0.0796	10	0.87932	D	0	.	15.9974	0.80262	0.3782:0.0:0.6218:0.0	.	701	O43520	AT8B1_HUMAN	M	701	ENSP00000283684:L701M;ENSP00000445359:L701M	ENSP00000283684:L701M	L	-	1	2	ATP8B1	53486767	0.196000	0.23350	0.019000	0.16419	0.362000	0.29581	0.767000	0.26575	-0.642000	0.05480	-0.484000	0.04775	CTG			0.363	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256097.1		NM_005603		T	55335769	G	T	55335769	3	4	3	1	0	0	0	0	1	0	0	0	1194	991	35	3	1694	3	ATP8B1	18	55335769	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		55335769	22741479	46	171											
TNFRSF11A	8792	mdanderson.org	37	chr18	60036584	60036584	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcctatggcatgggcctTccccctgaagaagaagccag	9	7	12	13	1	0	3	0	1	0	2	1	3	1	3	5	2	2	1	5	2	4	2			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr18:60036584T>C	ENST00000586569.1	+	9	1472	c.1434T>C	c.(1432-1434)ctT>ctC	p.L478L	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	478					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCATGGGCCTTCCCCCTGAAG	0.662																																					p.L478L													.	.			0			c.T1434C												36	38	37					18																	60036584		2151	4200	6351	SO:0001819	synonymous_variant	8792	exon9			GGGCCTTCCCCCT	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1434T>C	18.37:g.60036584T>C			30	0.0333333333	1		16	0.13	2	NM_003839	1	0	0	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	CCDS11980.1																																																																																					0.662	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256186.2				C	60036584	T	C	60036584	2	2	3	1	0	0	0	0	0	0	0	1	16307	1770	62	4		4	TNFRSF11A	18	60036584	Silent	SNP	T	TCGA-2G-AAF1-01A-11D-A42Y-10	4700815	60036584	18040664	47	172											
SH3GL1	6455	mdanderson.org	37	chr19	4362649	4362649	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggggaagcccccgttGgactgctcaggctctccaag	7	7	14	13	1	2	0	1	0	1	0	3	2	2	2	3	4	3	4	3	4	2	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr19:4362649G>T	ENST00000269886.3	-	8	991	c.813C>A	c.(811-813)tcC>tcA	p.S271S	SH3GL1_ENST00000417295.2_Silent_p.S223S|SH3GL1_ENST00000598564.1_Silent_p.S207S|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	271					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGCCCCCGTTGGACTGCTCAG	0.642			T	MLL	AL																																p.S271S	NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	.	.			0			c.C813A												47	48	48					19																	4362649		2203	4300	6503	SO:0001819	synonymous_variant	6455	exon8			CCCGTTGGACTGC		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.813C>A	19.37:g.4362649G>T			42	0	0		48	0.06	3	NM_003025	74	0	0	B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	CCDS32874.1																																																																																					0.642	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458302.1		NM_003025		T	4362649	G	T	4362649	2	4	3	1	0	0	0	0	0	0	0	1	14273	1335	47	3		3	SH3GL1	19	4362649	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		4362649	54766334	48	173											
ZNRF4	148066	mdanderson.org	37	chr19	5455601	5455601	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtcattccaactcaactGccctcgcgtcctggccacag	7	8	9	17	3	2	0	2	0	0	0	5	0	4	0	4	2	3	0	4	2	2	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr19:5455601G>A	ENST00000222033.4	+	1	176	c.99G>A	c.(97-99)ctG>ctA	p.L33L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	33						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)		CAACTCAACTGCCCTCGCGTC	0.662																																					p.L33L													.	.			0			c.G99A												40	47	45					19																	5455601		2092	4201	6293	SO:0001819	synonymous_variant	148066	exon1			TCAACTGCCCTCG	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.99G>A	19.37:g.5455601G>A			47	0	0		35	0.09	3	NM_181710	0		0	A8K886|O75866	Silent	SNP	ENST00000222033.4	37	CCDS42475.1																																																																																					0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450924.1		NM_181710		A	5455601	G	A	5455601	2	1	3	1	0	0	0	0	0	0	0	1	18237	1306	46	2		2	ZNRF4	19	5455601	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	1092952	5455601	53673382	49	174											
GRAMD1A	57655	mdanderson.org	37	chr19	35504213	35504213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcagtgctacggctcagaGctgggcctcaccagtgagga	9	7	13	12	1	3	2	3	1	0	1	3	3	3	3	2	3	3	3	2	3	1	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr19:35504213G>A	ENST00000317991.5	+	8	852	c.660G>A	c.(658-660)gaG>gaA	p.E220E	GRAMD1A_ENST00000411896.2_Silent_p.E213E|GRAMD1A_ENST00000599564.1_Silent_p.E307E|GRAMD1A_ENST00000504615.2_Intron|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	220						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)			ACGGCTCAGAGCTGGGCCTCA	0.632											OREG0025425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E220E													.	.			0			c.G660A												30	33	32					19																	35504213		1999	4125	6124	SO:0001819	synonymous_variant	57655	exon8			CTCAGAGCTGGGC	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.660G>A	19.37:g.35504213G>A			67	0	0	855	53	0.06	3	NM_020895	181	0	0	A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	CCDS42546.1																																																																																					0.632	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000461557.1		NM_020895		A	35504213	G	A	35504213	2	1	3	1	0	0	0	0	0	0	0	1	6762	962	34	2		2	GRAMD1A	19	35504213	Silent	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	30048612	35504213	23624770	50	175											
ISM1	140862	broad.mit.edu;mdanderson.org	37	chr20	13260477	13260477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgacagcaacttcctcaaccCccccagggggtgggaccata	10	5	10	16	1	1	0	1	0	0	0	2	2	2	1	5	3	3	1	5	3	3	2	rs543712330		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr20:13260477C>T	ENST00000262487.4	+	3	581	c.575C>T	c.(574-576)cCc>cTc	p.P192L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	192						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TTCCTCAACCCCCCCAGGGGG	0.552													C|||	1	0.000199681	0	0	5008	,	,		17919	0		0	False		,,,				2504	0.001				p.P192L													.	ISM1	41		0			c.C575T												50	57	55					20																	13260477		1885	4109	5994	SO:0001583	missense	140862	exon3			TCAACCCCCCCAG	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.575C>T	20.37:g.13260477C>T	ENSP00000262487:p.Pro192Leu		54	0	0		56	0.09	5	NM_080826	0		0	Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008045	0.54361	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.43294	0.95;0.96	6.07	5.12	0.69794	.	0.093723	0.85682	D	0.000000	T	0.35799	0.0944	L	0.39898	1.24	0.80722	D	1	B	0.18741	0.03	B	0.15484	0.013	T	0.09164	-1.0687	10	0.35671	T	0.21	-16.3162	14.4832	0.67597	0.0:0.9291:0.0:0.0709	.	192	B1AKI9	ISM1_HUMAN	L	192;146	ENSP00000262487:P192L;ENSP00000409938:P146L	ENSP00000262487:P192L	P	+	2	0	ISM1	13208477	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	5.408000	0.66368	1.549000	0.49425	0.655000	0.94253	CCC			0.552	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078039.2				T	13260477	C	T	13260477	3	4	3	1	0	0	0	0	1	0	0	0	7875	623	22	3	585	3	ISM1	20	13260477	Missense_Mutation	SNP	C	TCGA-2G-AAF1-01A-11D-A42Y-10		13260477	49765043	51	176											
CXorf36	79742	mdanderson.org	37	chrX	45017126	45017126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcgcaggagcgggctgGccaggccctacgcgcaggtg	6	3	19	13	4	0	0	0	0	0	0	0	1	0	1	2	6	3	4	2	6	1	1			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chrX:45017126G>T	ENST00000398000.2	-	3	580	c.506C>A	c.(505-507)gCc>gAc	p.A169D	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	169						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						GAGCGGGCTGGCCAGGCCCTA	0.677																																					p.A169D													.	.			0			c.C506A												11	10	10					X																	45017126		1479	3397	4876	SO:0001583	missense	79742	exon3			GGGCTGGCCAGGC	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.506C>A	X.37:g.45017126G>T	ENSP00000381086:p.Ala169Asp		36	0	0		35	0.09	3	NM_176819	7	0	0	A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971765	0.18736	.	.	ENSG00000147113	ENST00000398000	T	0.30182	1.54	4.81	4.81	0.61882	.	0.478535	0.20861	N	0.084355	T	0.19927	0.0479	N	0.14661	0.345	0.80722	D	1	B	0.22146	0.065	B	0.16289	0.015	T	0.04373	-1.0956	10	0.49607	T	0.09	.	13.603	0.62031	0.0:0.1525:0.8475:0.0	.	169	Q9H7Y0	CX036_HUMAN	D	169	ENSP00000381086:A169D	ENSP00000381086:A169D	A	-	2	0	CXorf36	44902070	1.000000	0.71417	0.994000	0.49952	0.179000	0.23085	4.561000	0.60809	1.972000	0.57404	0.436000	0.28706	GCC			0.677	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056333.2		NM_024689		T	45017126	G	T	45017126	3	4	3	1	0	0	0	0	1	0	0	0	4108	1203	42	2	807	2	CXorf36	23	45017126	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10		45017126	110253434	52	177											
GRIPAP1	56850	broad.mit.edu	37	chrX	48839806	48839806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggacttctcttgcagcGtttccattgctagctcatcc	5	14	9	13	1	2	0	1	0	1	0	5	1	4	1	2	1	4	5	2	1	1	5			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chrX:48839806G>T	ENST00000376441.1	-	16	1353	c.1319C>A	c.(1318-1320)aCg>aAg	p.T440K	GRIPAP1_ENST00000376423.4_Missense_Mutation_p.T387K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.T395K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.T409K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	440						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTCTTGCAGCGTTTCCATTGC	0.582																																					p.T440K													.	GRIPAP1	128		0			c.C1319A												123	93	103					X																	48839806		2203	4300	6503	SO:0001583	missense	56850	exon16			TGCAGCGTTTCCA	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1319C>A	X.37:g.48839806G>T	ENSP00000365624:p.Thr440Lys		59	0.0338983051	2		62	0.05	3	NM_020137	133	0	0	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	-	0.085	-1.176890	0.01646	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.29	2.5	0.30297	.	0.504375	0.19134	N	0.121862	T	0.10252	0.0251	N	0.14661	0.345	0.20764	N	0.999856	B;P;B	0.35226	0.045;0.491;0.151	B;B;B	0.33960	0.035;0.173;0.04	T	0.29088	-1.0023	10	0.20519	T	0.43	0.0033	7.3553	0.26714	0.2991:0.0:0.7009:0.0	.	387;330;440	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	K	409;395;440;409;387	ENSP00000365608:T409K;ENSP00000365627:T395K;ENSP00000365624:T440K;ENSP00000365606:T387K	ENSP00000365606:T387K	T	-	2	0	GRIPAP1	48724750	0.999000	0.42202	0.064000	0.19789	0.034000	0.12701	2.999000	0.49473	0.172000	0.19760	-0.462000	0.05337	ACG			0.582	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080970.2		NM_207672		T	48839806	G	T	48839806	3	4	3	1	0	0	0	0	1	0	0	0	6804	1145	40	1	1304	1	GRIPAP1	23	48839806	Missense_Mutation	SNP	G	TCGA-2G-AAF1-01A-11D-A42Y-10	3822680	48839806	106430754	53	178											
BCORL1	63035	broad.mit.edu	37	chrX	129148078	129148078	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccagggacagtgctgAccccgagccagccgctggta	8	6	13	14	2	1	1	1	1	0	0	1	3	1	2	5	2	4	3	5	2	1	2			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chrX:129148078A>C	ENST00000218147.7	+	4	1527	c.1330A>C	c.(1330-1332)Acc>Ccc	p.T444P	BCORL1_ENST00000540052.1_Missense_Mutation_p.T444P|BCORL1_ENST00000303743.5_Missense_Mutation_p.T444P|BCORL1_ENST00000359304.2_Missense_Mutation_p.T444P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	444	Pro-rich.				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						GACAGTGCTGACCCCGAGCCA	0.582																																					p.T444P													.	BCORL1	213		0			c.A1330C												42	38	39					X																	129148078		2203	4300	6503	SO:0001583	missense	63035	exon3			GTGCTGACCCCGA	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.1330A>C	X.37:g.129148078A>C	ENSP00000218147:p.Thr444Pro		66	0.2272727273	15		63	0.25	16	NM_021946	7	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.049447	0.55218	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.45276	0.91;1.28;0.9;0.91;1.35	5.8	4.44	0.53790	.	0.000000	0.37809	N	0.001939	T	0.36880	0.0983	N	0.14661	0.345	0.28965	N	0.889624	D;P	0.63880	0.993;0.915	P;B	0.59889	0.865;0.374	T	0.15263	-1.0443	10	0.34782	T	0.22	-16.8894	6.7073	0.23258	0.7745:0.0:0.0844:0.141	.	444;444	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	P	444;444;444;444;44	ENSP00000218147:T444P;ENSP00000307541:T444P;ENSP00000352253:T444P;ENSP00000437775:T444P;ENSP00000399483:T44P	ENSP00000218147:T444P	T	+	1	0	BCORL1	128975759	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.411000	0.44600	1.960000	0.56953	0.430000	0.28490	ACC			0.582	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058223.1		NM_021946		C	129148078	A	C	129148078	3	2	3	1	0	0	0	0	1	0	0	0	1387	275	10	4	1340	4	BCORL1	23	129148078	Missense_Mutation	SNP	A	TCGA-2G-AAF1-01A-11D-A42Y-10	80308272	129148078	26122482	54	179											
C1orf84	23334	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	43868935	43868935	+	Frame_Shift_Del	DEL	C	C	-																															tggcttggttcctcagtcatCtgcaccaaactgtgcaggcc																										TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr1:43868935delC	ENST00000562955.1	+	2	115	c.115delC	c.(115-117)ctgfs	p.L39fs	SZT2_ENST00000310739.4_Frame_Shift_Del_p.L39fs|SZT2_ENST00000372450.4_Frame_Shift_Del_p.L39fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	39					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTCAGTCATCTGCACCAAAC	0.512																																					p.H38fs													.	SZT2	383		0			c.114delT												85	79	81					1																	43868935		2203	4300	6503	SO:0001589	frameshift_variant	23334	exon2			AGTCATCTGCACC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.115delC	1.37:g.43868935delC	ENSP00000457168:p.Leu39fs		117	0	0		108	0.17	18	NM_015284	12	0	0	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	ENST00000562955.1	37	CCDS30694.2																																																																																					0.512	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019517.3		NM_015284		-	43868935	C	-	43868935	7	5	4	1	0	1	0	1	0	0	0	0	2063	912	32	0	121	0	C1orf84	1	43868935	Frame_Shift_Del	DEL	C	TCGA-2G-AAF4-01A-11D-A42Y-10		43868935	205381686	1	180											
FAF1	11124	mdanderson.org	37	chr1	51171496	51171496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgagaagttcaggttgtActcccgctggacttctcggt	6	13	11	11	2	2	1	1	1	1	1	5	3	4	2	2	3	1	4	2	3	2	4			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr1:51171496A>G	ENST00000396153.2	-	7	1070	c.619T>C	c.(619-621)Tac>Cac	p.Y207H	FAF1_ENST00000371778.4_Missense_Mutation_p.Y207H	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	207					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTCAGGTTGTACTCCCGCTGG	0.428																																					p.Y207H													.	.			2	Whole gene deletion(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)	c.T619C												135	123	127					1																	51171496		2203	4300	6503	SO:0001583	missense	11124	exon7			GGTTGTACTCCCG	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.619T>C	1.37:g.51171496A>G	ENSP00000379457:p.Tyr207His		81	0.012345679	1		57	0.05	3	NM_007051	158	0.01	1	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	CCDS554.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957693	0.73902	.	.	ENSG00000185104	ENST00000396153;ENST00000371778	T;T	0.32023	1.47;1.47	5.66	5.66	0.87406	.	0.061588	0.64402	D	0.000002	T	0.25568	0.0622	L	0.37630	1.12	0.80722	D	1	B	0.26120	0.142	B	0.15870	0.014	T	0.03068	-1.1076	10	0.27785	T	0.31	-18.6126	15.897	0.79341	1.0:0.0:0.0:0.0	.	207	Q9UNN5	FAF1_HUMAN	H	207	ENSP00000379457:Y207H;ENSP00000360843:Y207H	ENSP00000360843:Y207H	Y	-	1	0	FAF1	50944084	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.145000	0.66743	0.528000	0.53228	TAC			0.428	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021807.1		NM_007051		G	51171496	A	G	51171496	3	3	4	1	0	0	0	0	1	0	0	0	5379	391	14	4	1385	4	FAF1	1	51171496	Missense_Mutation	SNP	A	TCGA-2G-AAF4-01A-11D-A42Y-10	7302561	51171496	198079125	2	181											
PTPN22	26191	mdanderson.org	37	chr1	114391245	114391245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtagaccagttcatattGttcctgaagagcatcacaac	13	12	7	9	0	2	3	2	1	0	2	3	3	3	3	2	0	2	4	2	0	4	6			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr1:114391245G>T	ENST00000359785.5	-	11	967	c.832C>A	c.(832-834)Caa>Aaa	p.Q278K	PTPN22_ENST00000420377.2_Missense_Mutation_p.Q278K|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.Q34K|PTPN22_ENST00000525799.1_Missense_Mutation_p.Q151K	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	278	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		AGTTCATATTGTTCCTGAAGA	0.338																																					p.Q278K													.	.			0			c.C832A												116	128	124					1																	114391245		2202	4300	6502	SO:0001583	missense	26191	exon11			CATATTGTTCCTG	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.832C>A	1.37:g.114391245G>T	ENSP00000352833:p.Gln278Lys		50	0	0		34	0.09	3	NM_001193431	14	0	0	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581345	0.86748	.	.	ENSG00000134242	ENST00000359785;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	D;T;D;T	0.88201	-2.35;0.73;-2.35;1.63	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.991;0.997;1.0;0.999;1.0	D	0.97718	1.0195	10	0.87932	D	0	.	18.6546	0.91448	0.0:0.0:1.0:0.0	.	34;151;278;278;278	F5H2S8;E9PPI1;E9PMT0;G5E984;Q9Y2R2	.;.;.;.;PTN22_HUMAN	K	278;34;278;151;278	ENSP00000352833:Q278K;ENSP00000439372:Q34K;ENSP00000388229:Q278K;ENSP00000432674:Q151K	ENSP00000346621:Q278K	Q	-	1	0	PTPN22	114192768	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.536000	0.82023	2.705000	0.92388	0.655000	0.94253	CAA			0.338	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033015.1		NM_015967		T	114391245	G	T	114391245	3	4	4	1	0	0	0	0	1	0	0	0	12810	1386	48	3	1658	3	PTPN22	1	114391245	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	63219749	114391245	134859376	3	182											
DNM3	26052	mdanderson.org	37	chr1	171810899	171810899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagctgccgcagatcGccgtggtgggcggccagagc	5	6	18	12	4	0	2	0	0	0	2	1	3	0	3	3	4	4	3	3	4	0	0			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr1:171810899G>A	ENST00000355305.5	+	1	260	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	DNM3_ENST00000367731.1_Missense_Mutation_p.A35T|DNM3_ENST00000520906.1_Missense_Mutation_p.A35T|DNM3_ENST00000367733.2_Missense_Mutation_p.A35T|DNM3_ENST00000358155.4_Missense_Mutation_p.A35T			Q9UQ16	DYN3_HUMAN	dynamin 3	35	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCCGCAGATCGCCGTGGTGGG	0.687																																					p.A35T													.	.			0			c.G103A												15	22	20					1																	171810899		2190	4295	6485	SO:0001583	missense	26052	exon1			CAGATCGCCGTGG	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.103G>A	1.37:g.171810899G>A	ENSP00000347457:p.Ala35Thr		35	0	0		43	0.07	3	NM_015569	2	0	0	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	G	35	5.416865	0.96092	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19	3.61	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.95059	0.8400	M	0.81341	2.54	0.80722	D	1	P;D;D;P	0.54207	0.951;0.965;0.965;0.944	B;P;P;B	0.44647	0.395;0.456;0.456;0.395	D	0.95236	0.8347	10	0.62326	D	0.03	.	14.2996	0.66336	0.0:0.0:1.0:0.0	.	35;35;35;35	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	T	35	ENSP00000350876:A35T;ENSP00000356707:A35T;ENSP00000347457:A35T;ENSP00000356705:A35T;ENSP00000429701:A35T	ENSP00000347457:A35T	A	+	1	0	DNM3	170077522	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.326000	0.90010	1.997000	0.58415	0.591000	0.81541	GCC			0.687	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000084531.1		NM_015569		A	171810899	G	A	171810899	3	1	4	1	0	0	0	0	1	0	0	0	4678	1087	38	1	105	1	DNM3	1	171810899	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	57419654	171810899	77439722	4	183											
GREB1	9687	ucsc.edu	37	chr2	11720844	11720844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcaggaccagcttctgatCacccctcactaaacgcagca	11	9	6	15	1	4	1	3	1	1	0	4	2	4	2	3	1	3	3	3	1	2	3			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:11720844C>T	ENST00000381486.2	+	7	1087	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	GREB1_ENST00000381483.2_Missense_Mutation_p.H263Y|GREB1_ENST00000234142.5_Missense_Mutation_p.H263Y|GREB1_ENST00000389825.3_Missense_Mutation_p.H153Y|GREB1_ENST00000263834.5_Missense_Mutation_p.H263Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	263						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCTTCTGATCACCCCTCACT	0.522																																					p.H263Y	Ovarian(39;850 945 2785 23371 33093)												.	GREB1	308		0			c.C787T												115	113	114					2																	11720844		2203	4300	6503	SO:0001583	missense	9687	exon7			TCTGATCACCCCT		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.787C>T	2.37:g.11720844C>T	ENSP00000370896:p.His263Tyr		59	0	0		47	0.11	5	NM_148903	12	0	0	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	2.459	-0.324641	0.05350	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.47528	3.23;2.23;0.84;2.24;3.23	5.57	4.69	0.59074	.	0.357052	0.24907	N	0.034641	T	0.30479	0.0766	N	0.25647	0.755	0.36120	D	0.845407	B;B;B;B	0.19200	0.007;0.034;0.004;0.0	B;B;B;B	0.22386	0.006;0.039;0.004;0.001	T	0.15350	-1.0440	10	0.02654	T	1	-16.0635	12.1525	0.54057	0.0:0.9196:0.0:0.0804	.	263;153;263;263	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	Y	263;263;153;263;263	ENSP00000370896:H263Y;ENSP00000263834:H263Y;ENSP00000374475:H153Y;ENSP00000370892:H263Y;ENSP00000234142:H263Y	ENSP00000234142:H263Y	H	+	1	0	GREB1	11638295	0.993000	0.37304	0.048000	0.18961	0.085000	0.17905	2.324000	0.43831	2.628000	0.89032	0.561000	0.74099	CAC			0.522	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000280490.1		NM_014668		T	11720844	C	T	11720844	3	4	4	1	0	0	0	0	1	0	0	0	6775	826	29	3	809	3	GREB1	2	11720844	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10		11720844	231478529	5	184											
CREG2	200407	mdanderson.org	37	chr2	102003876	102003876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagcagccaggagaggCgggtccccggccgcgccggc	7	1	17	16	5	0	1	0	0	0	1	1	2	1	1	5	5	3	2	5	5	0	0	rs531387490		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:102003876C>T	ENST00000324768.5	-	1	181	c.44G>A	c.(43-45)cGc>cAc	p.R15H	CREG2_ENST00000495455.1_5'Flank	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	15						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCAGGAGAGGCGGGTccccgg	0.766																																					p.R15H													.	.			0			c.G44A												2	2	2					2																	102003876		1664	3371	5035	SO:0001583	missense	200407	exon1			GAGAGGCGGGTCC	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.44G>A	2.37:g.102003876C>T	ENSP00000315203:p.Arg15His		23	0	0		18	0.11	2	NM_153836	1	0	0	Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138139	0.37728	.	.	ENSG00000175874	ENST00000324768	T	0.46063	0.88	4.02	4.02	0.46733	.	0.865003	0.09894	N	0.741984	T	0.37128	0.0992	L	0.40543	1.245	0.18873	N	0.999981	P	0.52692	0.955	B	0.42188	0.379	T	0.15093	-1.0449	10	0.25751	T	0.34	.	14.0686	0.64847	0.0:1.0:0.0:0.0	.	15	Q8IUH2	CREG2_HUMAN	H	15	ENSP00000315203:R15H	ENSP00000315203:R15H	R	-	2	0	CREG2	101370308	0.000000	0.05858	0.037000	0.18230	0.033000	0.12548	0.186000	0.16978	2.067000	0.61834	0.455000	0.32223	CGC			0.766	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253188.2		NM_153836		T	102003876	C	T	102003876	3	4	4	1	0	0	0	0	1	0	0	0	3867	768	27	1	844	1	CREG2	2	102003876	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	90283032	102003876	141195497	6	185											
FMNL2	114793	mdanderson.org	37	chr2	153497328	153497328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttctcataaatcaaagagGcagcagcaagagttaattgc	15	9	8	9	0	2	2	2	0	1	2	3	2	2	2	1	1	3	4	1	1	5	4			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:153497328G>T	ENST00000475377.2	+	12	1394	c.1194G>T	c.(1192-1194)agG>agT	p.R398S	FMNL2_ENST00000288670.9_Missense_Mutation_p.R1023S			Q96PY5	FMNL2_HUMAN	formin-like 2	1023	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AATCAAAGAGGCAGCAGCAAG	0.403																																					p.R1023S													.	.			0			c.G3069T												75	72	73					2																	153497328		1866	4108	5974	SO:0001583	missense	114793	exon25			AAAGAGGCAGCAG	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.1194G>T	2.37:g.153497328G>T	ENSP00000418959:p.Arg398Ser		66	0	0		47	0.06	3	NM_052905	143	0	0	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	37		.	.	.	.	.	.	.	.	.	.	G	14.26	2.481584	0.44147	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.76448	-1.02;2.26	5.33	0.977	0.19733	Actin-binding FH2/DRF autoregulatory (1);	.	.	.	.	T	0.72598	0.3480	L	0.49350	1.555	0.58432	D	0.999991	P;B;P	0.41597	0.629;0.389;0.756	B;B;P	0.48598	0.18;0.101;0.583	T	0.64390	-0.6419	9	0.08599	T	0.76	.	8.933	0.35682	0.4355:0.0:0.5645:0.0	.	1023;504;1023	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	S	1023;504;398	ENSP00000288670:R1023S;ENSP00000418959:R398S	ENSP00000288670:R1023S	R	+	3	2	FMNL2	153205574	0.994000	0.37717	0.997000	0.53966	0.989000	0.77384	0.341000	0.19909	-0.114000	0.11936	-0.253000	0.11424	AGG			0.403	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000333583.3		NM_052905		T	153497328	G	T	153497328	3	4	4	1	0	0	0	0	1	0	0	0	5965	1194	42	2	3167	2	FMNL2	2	153497328	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	51493452	153497328	89702045	7	186											
FAP	2191	mdanderson.org	37	chr2	163075681	163075681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaatagatattgttttGatagacatatgcctaaaagt	15	16	6	4	0	1	3	1	1	0	2	1	3	1	3	1	0	1	1	1	0	7	9			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:163075681G>T	ENST00000188790.4	-	8	706	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	FAP_ENST00000443424.1_Missense_Mutation_p.Q142K	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						ATATTGTTTTGATAGACATAT	0.308																																					p.Q167K													.	.			0			c.C499A												110	118	116					2																	163075681		2203	4297	6500	SO:0001583	missense	2191	exon8			TGTTTTGATAGAC	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.499C>A	2.37:g.163075681G>T	ENSP00000188790:p.Gln167Lys		60	0	0		38	0.08	3	NM_004460	0		0		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	9.980	1.227967	0.22542	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T;T	0.95756	-3.8;1.61;1.58	5.86	5.86	0.93980	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.227351	0.45606	D	0.000348	D	0.90779	0.7105	N	0.16478	0.41	0.41672	D	0.989249	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.20577	0.03;0.008;0.008	D	0.85709	0.1318	10	0.30854	T	0.27	-8.7662	15.9811	0.80111	0.0:0.1339:0.8661:0.0	.	142;167;167	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	K	167;142;146	ENSP00000188790:Q167K;ENSP00000411391:Q142K;ENSP00000400137:Q146K	ENSP00000188790:Q167K	Q	-	1	0	FAP	162783927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.759000	0.47573	2.937000	0.99478	0.650000	0.86243	CAA			0.308	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000332852.2				T	163075681	G	T	163075681	3	4	4	1	0	0	0	0	1	0	0	0	5686	1299	45	3	1859	3	FAP	2	163075681	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	9578353	163075681	80123692	8	187											
ITGA6	3655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	173349559	173349559	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaagaaaatctgggctAtcctcaagagttcagtttcg	14	10	10	7	1	3	3	2	0	1	3	5	4	4	3	1	1	0	3	1	1	6	3			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:173349559A>G	ENST00000264106.6	+	13	1919	c.1716A>G	c.(1714-1716)ctA>ctG	p.L572L	ITGA6_ENST00000264107.7_Silent_p.L533L|ITGA6_ENST00000343713.4_Silent_p.L528L|ITGA6_ENST00000375221.2_Silent_p.L572L|ITGA6_ENST00000409080.1_Silent_p.L533L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Silent_p.L414L			P23229	ITA6_HUMAN	integrin, alpha 6	572					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)			AATCTGGGCTATCCTCAAGAG	0.393																																					p.L533L													.	.			0			c.A1599G												66	66	66					2																	173349559		2203	4300	6503	SO:0001819	synonymous_variant	3655	exon12			TGGGCTATCCTCA		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.1716A>G	2.37:g.173349559A>G			102	0	0		117	0.18	21	NM_001079818	198	0.2	40	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37																																																																																						0.393	ITGA6-201	KNOWN	basic	protein_coding	protein_coding						G	173349559	A	G	173349559	2	3	4	1	0	0	0	0	0	0	0	1	7895	436	16	4		4	ITGA6	2	173349559	Silent	SNP	A	TCGA-2G-AAF4-01A-11D-A42Y-10	10273878	173349559	69849814	9	188											
ATIC	471	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	216209567	216209568	+	Frame_Shift_Del	DEL	CT	CT	-																															gtcaagtacactcagtctaaCtctgtgtgctacgccaagaa																										TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	CT	CT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:216209567_216209568delCT	ENST00000236959.9	+	13	1619_1620	c.1293_1294delCT	c.(1291-1296)aactctfs	p.S432fs	ATIC_ENST00000540518.1_Frame_Shift_Del_p.S373fs|ATIC_ENST00000435675.1_Frame_Shift_Del_p.S431fs	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	432					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTCAGTCTAACTCTGTGTGCTA	0.495			T	ALK	ALCL																																p.431_431del				Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	.	ATIC	84		0			c.1292_1293del																																									SO:0001589	frameshift_variant	471	exon13			GTCTAACTCTGTG		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1293_1294delCT	2.37:g.216209569_216209570delCT	ENSP00000236959:p.Ser432fs		116	0	0		114	0.17	19	NM_004044	691	0	0	A8K202|E9PBU3|Q13856|Q53S28	Frame_Shift_Del	DEL	ENST00000236959.9	37	CCDS2398.1																																																																																					0.495	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256610.1		NM_004044		-	216209568	CT	-	216209567	7	5	4	1	0	1	0	1	0	0	0	0	1105	564	20	0	1343	0	ATIC	2	216209567	Frame_Shift_Del	DEL	CT	TCGA-2G-AAF4-01A-11D-A42Y-10	42860008	216209567	26989806	10	189											
TMEM169	92691	broad.mit.edu	37	chr2	216965258	216965258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaagtagaaacctccaCggtctaaactcccaacaact	16	6	5	14	1	1	2	0	0	1	2	3	2	3	2	4	1	4	1	4	1	8	2	rs142015527		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:216965258C>T	ENST00000295658.4	+	3	1094	c.887C>T	c.(886-888)aCg>aTg	p.T296M	TMEM169_ENST00000454545.1_Missense_Mutation_p.T296M|TMEM169_ENST00000406027.2_Missense_Mutation_p.T296M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T296M	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	296						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAACCTCCACGGTCTAAACT	0.448													C|||	1	0.000199681	0	0	5008	,	,		20369	0.001		0	False		,,,				2504	0				p.T296M													.	TMEM169	46		0			c.C887T							C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	81	88	85		887,887,887,887	3.3	0.9	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	TMEM169	NM_001142310.1,NM_001142311.1,NM_001142312.1,NM_138390.3	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	296/298,296/298,296/298,296/298	216965258	1,13005	2203	4300	6503	SO:0001583	missense	92691	exon4			CCTCCACGGTCTA	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.887C>T	2.37:g.216965258C>T	ENSP00000295658:p.Thr296Met		62	0	0		70	0.06	4	NM_001142310	4	0	0	B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	CCDS2401.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.22	2.171098	0.38315	0.0	1.16E-4	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	5.08	3.26	0.37387	.	0.446118	0.26153	N	0.026032	T	0.23014	0.0556	N	0.14661	0.345	0.28524	N	0.912932	B	0.22003	0.063	B	0.18263	0.021	T	0.15206	-1.0445	8	.	.	.	-0.9091	9.5198	0.39129	0.0:0.7783:0.1438:0.078	.	296	Q96HH4	TM169_HUMAN	M	296	.	.	T	+	2	0	TMEM169	216673503	1.000000	0.71417	0.887000	0.34795	0.976000	0.68499	5.089000	0.64492	0.689000	0.31550	0.655000	0.94253	ACG			0.448	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256666.2		NM_138390		T	216965258	C	T	216965258	3	4	4	1	0	0	0	0	1	0	0	0	16107	536	19	1	893	1	TMEM169	2	216965258	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	755691	216965258	26234115	11	190											
KIF15	56992	mdanderson.org	37	chr3	44872428	44872428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacagagaagagagcaGagtgttgatcaagaagcagg	15	6	16	4	0	1	6	1	2	0	4	1	8	1	6	0	2	2	4	0	2	3	2			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr3:44872428G>T	ENST00000326047.4	+	26	3238	c.3089G>T	c.(3088-3090)aGa>aTa	p.R1030I	KIF15_ENST00000425755.1_Missense_Mutation_p.R665I	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1030					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)		GAAGAGAGCAGAGTGTTGATC	0.378																																					p.R1030I													.	.			0			c.G3089T												139	134	136					3																	44872428		2203	4300	6503	SO:0001583	missense	56992	exon26			AGAGCAGAGTGTT	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.3089G>T	3.37:g.44872428G>T	ENSP00000324020:p.Arg1030Ile		48	0	0		48	0.06	3	NM_020242	34	0	0	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038442	0.35989	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.45276	0.9;0.9	6.06	2.1	0.27182	.	0.253773	0.27797	N	0.017803	T	0.20129	0.0484	N	0.08118	0	0.30780	N	0.742124	B	0.31485	0.325	B	0.30029	0.11	T	0.12528	-1.0544	10	0.62326	D	0.03	.	6.6094	0.22743	0.728:0.1288:0.1432:0.0	.	1030	Q9NS87	KIF15_HUMAN	I	1030;1029;665	ENSP00000324020:R1030I;ENSP00000389982:R665I	ENSP00000324020:R1030I	R	+	2	0	KIF15	44847432	0.918000	0.31147	0.171000	0.22900	0.602000	0.36980	1.112000	0.31172	0.139000	0.18822	-0.290000	0.09829	AGA			0.378	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343831.2				T	44872428	G	T	44872428	3	4	4	1	0	0	0	0	1	0	0	0	8292	942	33	3	3191	3	KIF15	3	44872428	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10		44872428	153150002	12	191											
UMPS	7372	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	124456529	124456529	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaggttcttcagaaggAgggcttgaaggtcactgatg	9	12	15	5	0	3	4	2	3	1	1	3	5	3	5	0	4	0	3	0	4	2	4			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr3:124456529A>C	ENST00000232607.2	+	3	531	c.425A>C	c.(424-426)gAg>gCg	p.E142A	UMPS_ENST00000536109.1_Missense_Mutation_p.E50A|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000413078.2_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	142	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CTTCAGAAGGAGGGCTTGAAG	0.483																																					p.E142A													.	UMPS	43		0			c.A425C												127	118	121					3																	124456529		2203	4300	6503	SO:0001583	missense	7372	exon3			AGAAGGAGGGCTT		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.425A>C	3.37:g.124456529A>C	ENSP00000232607:p.Glu142Ala		155	0.0064516129	1		151	0.1	15	NM_000373	135	0.24	33	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071774	0.36566	.	.	ENSG00000114491	ENST00000232607;ENST00000536109	D;D	0.99194	-5.54;-5.54	5.65	4.47	0.54385	Phosphoribosyltransferase (1);	0.104292	0.64402	N	0.000004	D	0.94961	0.8370	N	0.11427	0.14	0.80722	D	1	B	0.06786	0.001	B	0.17979	0.02	D	0.91828	0.5473	10	0.08837	T	0.75	-21.1584	11.6096	0.51052	0.8512:0.1488:0.0:0.0	.	142	P11172	UMPS_HUMAN	A	142;50	ENSP00000232607:E142A;ENSP00000443577:E50A	ENSP00000232607:E142A	E	+	2	0	UMPS	125939219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.367000	0.59498	1.120000	0.41904	0.533000	0.62120	GAG			0.483	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355271.1		NM_000373		C	124456529	A	C	124456529	3	2	4	1	0	0	0	0	1	0	0	0	17005	304	11	4	435	4	UMPS	3	124456529	Missense_Mutation	SNP	A	TCGA-2G-AAF4-01A-11D-A42Y-10	79584101	124456529	73565901	13	192											
KCNMB3	27094	mdanderson.org	37	chr3	178962476	178962476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtcgattcttctctcTgaatgcttcaatttgaaaaa	11	15	7	8	1	4	2	1	2	3	0	6	3	4	2	0	1	2	2	0	1	4	4	rs4080958		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr3:178962476T>C	ENST00000314235.5	-	3	777	c.266A>G	c.(265-267)cAg>cGg	p.Q89R	KCNMB3_ENST00000486944.1_5'Flank|KCNMB3_ENST00000485523.1_Missense_Mutation_p.Q67R|KCNMB3_ENST00000392685.2_Missense_Mutation_p.Q85R|KCNMB3_ENST00000497599.1_Missense_Mutation_p.Q87R|KCNMB3_ENST00000349697.2_Missense_Mutation_p.Q87R	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	89					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	TTCTTCTCTCTGAATGCTTCA	0.433																																					p.Q89R													.	.			0			c.A266G												55	54	54					3																	178962476		2203	4300	6503	SO:0001583	missense	27094	exon3			TCTCTCTGAATGC	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"Potassium channels"	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.266A>G	3.37:g.178962476T>C	ENSP00000319370:p.Gln89Arg		181	0.0220994475	4		177	0.05	9	NM_014407	4	0	0	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000314235.5	37	CCDS3226.1	.	.	.	.	.	.	.	.	.	.	T	4.850	0.157976	0.09236	.	.	ENSG00000171121	ENST00000497599;ENST00000392685;ENST00000349697;ENST00000314235;ENST00000485523	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	5.43	0.127	0.14727	.	0.414974	0.27739	N	0.018041	T	0.10680	0.0261	M	0.74881	2.28	0.20821	N	0.999844	B;B;B;B;B	0.12630	0.006;0.001;0.0;0.001;0.002	B;B;B;B;B	0.14578	0.011;0.002;0.001;0.002;0.005	T	0.28522	-1.0041	10	0.27082	T	0.32	-14.8375	4.3958	0.11362	0.1419:0.3181:0.0:0.54	rs4080958;rs4080958	87;87;67;85;89	E9PER5;Q9NPA1-2;Q9NPA1-4;Q9NPA1-3;Q9NPA1	.;.;.;.;KCMB3_HUMAN	R	87;85;87;89;67	ENSP00000417091:Q87R;ENSP00000376451:Q85R;ENSP00000327866:Q87R;ENSP00000319370:Q89R;ENSP00000418536:Q67R	ENSP00000319370:Q89R	Q	-	2	0	KCNMB3	180445170	1.000000	0.71417	0.054000	0.19295	0.025000	0.11179	1.619000	0.36965	-0.129000	0.11620	-1.087000	0.02190	CAG			0.433	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000348484.1				C	178962476	T	C	178962476	3	2	4	1	0	0	0	0	1	0	0	0	8091	1580	55	4	654	4	KCNMB3	3	178962476	Missense_Mutation	SNP	T	TCGA-2G-AAF4-01A-11D-A42Y-10	54505947	178962476	19059954	14	193											
DSPP	1834	bcgsc.ca	37	chr4	88537270	88537270	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagtgaaagcagcgaCagcagtgacagcagcgacag	15	2	14	10	2	0	2	0	2	0	0	0	5	0	2	0	0	6	4	0	0	1	0			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr4:88537270C>T	ENST00000282478.7	+	4	3489	c.3456C>T	c.(3454-3456)gaC>gaT	p.D1152D	DSPP_ENST00000399271.1_Silent_p.D1152D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1152	Asp/Ser-rich.			D -> N (in Ref. 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		aaagcagcgacagcagtgaca	0.557																																					p.D1152D													.	DSPP	174		0			c.C3456T												47	61	56					4																	88537270		1584	2865	4449	SO:0001819	synonymous_variant	1834	exon5			CAGCGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3456C>T	4.37:g.88537270C>T			93	0.0107526882	1		106	0.08	8	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.557	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		T	88537270	C	T	88537270	2	4	4	1	0	0	0	0	0	0	0	1	4787	477	17	3		3	DSPP	4	88537270	Silent	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10		88537270	102617006	15	194											
DPYSL3	1809	mdanderson.org	37	chr5	146777272	146777272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagacatagtcggagaacGggctgcagggtatgaagcgg	11	7	17	6	3	0	3	0	1	0	2	1	4	0	3	0	4	3	4	0	4	5	3	rs373475070		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr5:146777272G>T	ENST00000398514.3	-	12	1789	c.1418C>A	c.(1417-1419)cCg>cAg	p.P473Q	DPYSL3_ENST00000343218.5_Missense_Mutation_p.P587Q|DPYSL3_ENST00000534907.1_Missense_Mutation_p.P99Q	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	473					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGGAGAACGGGCTGCAGGG	0.572																																					p.P587Q													.	.			0			c.C1760A												85	90	88					5																	146777272		2033	4184	6217	SO:0001583	missense	1809	exon12			GAGAACGGGCTGC	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1418C>A	5.37:g.146777272G>T	ENSP00000381526:p.Pro473Gln		77	0	0		44	0.07	3	NM_001197294	38	0	0	B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538941	0.85917	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000534907	T;T;T	0.75367	-0.93;-0.93;-0.93	6.03	6.03	0.97812	.	0.094474	0.85682	D	0.000000	T	0.78110	0.4232	M	0.78285	2.405	0.80722	D	1	P;P	0.45531	0.853;0.86	B;B	0.40009	0.243;0.316	T	0.81385	-0.0957	10	0.72032	D	0.01	-13.4513	20.5752	0.99366	0.0:0.0:1.0:0.0	.	587;473	B3SXQ8;Q14195	.;DPYL3_HUMAN	Q	473;587;99	ENSP00000381526:P473Q;ENSP00000343690:P587Q;ENSP00000441819:P99Q	ENSP00000343690:P587Q	P	-	2	0	DPYSL3	146757465	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.977000	0.88081	2.868000	0.98415	0.557000	0.71058	CCG			0.572	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373421.2		NM_001387		T	146777272	G	T	146777272	3	4	4	1	0	0	0	0	1	0	0	0	4753	1116	39	1	306	1	DPYSL3	5	146777272	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10		146777272	34137988	16	195											
CAMK2A	815	mdanderson.org	37	chr5	149607840	149607840	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggctgtcatgccagggtcGcacatcttcctgggggaaag	9	8	14	10	1	2	0	1	0	1	0	4	1	3	1	2	4	1	2	2	4	2	1	rs375087065		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr5:149607840G>T	ENST00000348628.6	-	16	1784	c.1119C>A	c.(1117-1119)tgC>tgA	p.C373*	CAMK2A_ENST00000398376.3_Nonsense_Mutation_p.C384*|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	373					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)			TGCCAGGGTCGCACATCTTCC	0.552																																					p.C384X													.	.			0			c.C1152A												50	54	53					5																	149607840		1903	4118	6021	SO:0001587	stop_gained	815	exon17			AGGGTCGCACATC	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.1119C>A	5.37:g.149607840G>T	ENSP00000261793:p.Cys373*		49	0	0		27	0.11	3	NM_015981	0		0	Q9UL21|Q9Y2H4|Q9Y352	Nonsense_Mutation	SNP	ENST00000348628.6	37	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	G	43	10.079762	0.99332	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	.	.	.	5.7	-1.62	0.08372	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6927	0.56985	0.7655:0.0:0.2345:0.0	.	.	.	.	X	373;384	.	ENSP00000261793:C373X	C	-	3	2	CAMK2A	149588033	0.943000	0.32029	0.994000	0.49952	0.960000	0.62799	0.221000	0.17680	-0.206000	0.10203	-0.140000	0.14226	TGC			0.552	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258869.2		NM_015981		T	149607840	G	T	149607840	4	4	4	1	0	0	0	0	0	1	0	0	2601	1079	38	1	329	1	CAMK2A	5	149607840	Nonsense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	2830568	149607840	31307420	17	196											
BAT2	7916	mdanderson.org	37	chr6	31596000	31596000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagcaccagcagtggcagCttcgaagccagcccaggtat	11	6	12	12	1	0	0	0	0	0	0	1	1	0	0	3	2	5	6	3	2	3	3			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr6:31596000C>T	ENST00000376033.2	+	12	1983	c.1749C>T	c.(1747-1749)agC>agT	p.S583S	PRRC2A_ENST00000376007.4_Silent_p.S583S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	583	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						GCAGTGGCAGCTTCGAAGCCA	0.577																																					p.S583S													.	.			0			c.C1749T												57	51	53					6																	31596000		1511	2709	4220	SO:0001819	synonymous_variant	7916	exon12			TGGCAGCTTCGAA	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.1749C>T	6.37:g.31596000C>T			32	0	0		46	0.07	3	NM_004638	291	0	1	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																					0.577	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259319.1		NM_080686		T	31596000	C	T	31596000	2	4	4	1	0	0	0	0	0	0	0	1	1319	796	28	2		2	BAT2	6	31596000	Silent	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10		31596000	139519067	18	197											
CUL9	23113	mdanderson.org	37	chr6	43156418	43156418	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggaggaggtcactgagcgGgaccaccctctggtccgtcc	6	7	15	13	2	2	1	1	1	1	0	4	4	4	4	4	5	1	0	4	5	0	0			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr6:43156418G>T	ENST00000252050.4	+	8	2229	c.2145G>T	c.(2143-2145)cgG>cgT	p.R715R	CUL9_ENST00000354495.3_Silent_p.R605R|CUL9_ENST00000372647.2_Silent_p.R715R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	715					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						TCACTGAGCGGGACCACCCTC	0.587																																					p.R715R													CUL9,colon,carcinoma,+2,1	CUL9	2	1	0			c.G2145T												78	69	72					6																	43156418		2203	4300	6503	SO:0001819	synonymous_variant	23113	exon8			TGAGCGGGACCAC	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.2145G>T	6.37:g.43156418G>T			65	0	0		79	0.06	5	NM_015089	5	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																					0.587	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040582.2		NM_015089		T	43156418	G	T	43156418	2	4	4	1	0	0	0	0	0	0	0	1	4063	1219	43	3		3	CUL9	6	43156418	Silent	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	11560418	43156418	127958649	19	198											
RAET1L	154064	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	150346542	150346542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtctcgcctagcccgggaCcagccgaacagcaggaacag	10	3	12	16	4	1	0	0	0	1	0	2	3	1	2	5	2	5	1	5	2	3	1	rs200401216		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr6:150346542C>G	ENST00000367341.1	-	1	65	c.66G>C	c.(64-66)tgG>tgC	p.W22C	RAET1L_ENST00000286380.2_Missense_Mutation_p.W22C			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	22					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TAGCCCGGGACCAGCCGAACA	0.627													C|||	1	0.000199681	0	0	5008	,	,		14704	0		0.001	False		,,,				2504	0				p.W22C													.	.			0			c.G66C							C	CYS/TRP	0,4406		0,0,2203	50	51	51		66	-1	0	6		51	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RAET1L	NM_130900.2	215	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	22/247	150346542	2,13004	2203	4300	6503	SO:0001583	missense	154064	exon1			CCGGGACCAGCCG	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.66G>C	6.37:g.150346542C>G	ENSP00000356310:p.Trp22Cys		48	0	0		75	0.08	6	NM_130900	0		0	A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	CCDS5224.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	6.685	0.494926	0.12702	0.0	2.33E-4	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.00760	5.73;5.73	0.495	-0.962	0.10333	.	.	.	.	.	T	0.01353	0.0044	M	0.84082	2.675	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38972	-0.9636	8	0.72032	D	0.01	.	.	.	.	.	22	Q5VY80	RET1L_HUMAN	C	22	ENSP00000356310:W22C;ENSP00000286380:W22C	ENSP00000286380:W22C	W	-	3	0	RAET1L	150388235	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.411000	0.07142	-0.478000	0.06823	0.313000	0.20887	TGG	0.001		0.627	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042676.1		NM_130900		G	150346542	C	G	150346542	3	3	4	1	0	0	0	0	1	0	0	0	13024	508	18	5	689	5	RAET1L	6	150346542	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	107190124	150346542	20768525	20	199											
PMS2	5395	broad.mit.edu	37	chr7	6026444	6026444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattttctccaggacaaatcTttgccctaaacttcctgtaa	11	14	5	11	0	2	0	0	0	2	0	4	2	3	1	3	1	2	1	3	1	4	6	rs267608167		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr7:6026444T>C	ENST00000265849.7	-	11	2057	c.1952A>G	c.(1951-1953)aAg>aGg	p.K651R	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	651					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGGACAAATCTTTGCCCTAAA	0.328			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.K651R			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88		0			c.A1952G												89	86	87					7																	6026444		2203	4300	6503	SO:0001583	missense	5395	exon11	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	CAAATCTTTGCCC		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1952A>G	7.37:g.6026444T>C	ENSP00000265849:p.Lys651Arg		371	0.0026954178	1		520	0.01	4	NM_000535	45	0.02	1	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	13.77	2.335511	0.41398	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476	T;T	0.40225	1.04;1.04	5.82	0.829	0.18847	.	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.77103	2.36	0.47476	D	0.999431	B;B	0.33583	0.021;0.418	B;B	0.40982	0.019;0.345	T	0.30909	-0.9962	10	0.35671	T	0.21	-19.6292	9.5139	0.39093	0.0:0.2623:0.0:0.7377	rs63751461	651;545	P54278;C9J167	PMS2_HUMAN;.	R	651;604;545	ENSP00000265849:K651R;ENSP00000392843:K545R	ENSP00000265849:K651R	K	-	2	0	PMS2	5992970	1.000000	0.71417	0.842000	0.33263	0.835000	0.47333	2.986000	0.49370	-0.068000	0.12953	-0.369000	0.07265	AAG			0.328	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207353.3		NM_000535		C	6026444	T	C	6026444	3	2	4	1	0	0	0	0	1	0	0	0	12160	1609	56	4	656	4	PMS2	7	6026444	Missense_Mutation	SNP	T	TCGA-2G-AAF4-01A-11D-A42Y-10		6026444	153112219	21	200											
C7orf51	222950	mdanderson.org	37	chr7	100086606	100086606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggccagccccggggggAgcgggagctccccaactccc	5	4	14	18	2	1	0	0	0	1	0	3	2	3	2	6	5	4	1	6	5	1	0			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr7:100086606A>G	ENST00000300179.2	+	4	1421	c.1262A>G	c.(1261-1263)gAg>gGg	p.E421G	NYAP1_ENST00000423930.1_Missense_Mutation_p.E421G|NYAP1_ENST00000454988.1_Missense_Mutation_p.E364G	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	421	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCCCGGGGGGAGCGGGAGCTC	0.761																																					p.E421G													.	.			0			c.A1262G												6	7	7					7																	100086606		1909	3955	5864	SO:0001583	missense	222950	exon4			GGGGGGAGCGGGA	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.1262A>G	7.37:g.100086606A>G	ENSP00000300179:p.Glu421Gly		21	0.0476190476	1		20	0.25	5	NM_173564	2	0	0	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118777	0.56505	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.34859	1.37;1.34;1.36	4.18	4.18	0.49190	.	0.000000	0.46442	D	0.000286	T	0.35885	0.0947	N	0.19112	0.55	0.40746	D	0.982875	D;B	0.56287	0.975;0.134	P;B	0.58130	0.833;0.085	T	0.09796	-1.0658	10	0.27082	T	0.32	-21.0958	11.2206	0.48853	1.0:0.0:0.0:0.0	.	364;421	C9JS30;Q6ZVC0	.;CG051_HUMAN	G	421;421;364	ENSP00000300179:E421G;ENSP00000411861:E421G;ENSP00000394424:E364G	ENSP00000300179:E421G	E	+	2	0	C7orf51	99924542	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.381000	0.52455	1.744000	0.51775	0.379000	0.24179	GAG			0.761	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339335.2		NM_173564		G	100086606	A	G	100086606	3	3	4	1	0	0	0	0	1	0	0	0	2402	304	11	4	1272	4	C7orf51	7	100086606	Missense_Mutation	SNP	A	TCGA-2G-AAF4-01A-11D-A42Y-10	94060162	100086606	59052057	22	201											
CUX1	1523	mdanderson.org	37	chr7	101877521	101877521	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaacggatggagaagaaagGtaagtctccctgccccgccc	12	5	12	12	2	1	2	0	0	1	2	2	5	1	3	4	3	2	1	4	3	4	1			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr7:101877521G>T	ENST00000292535.7	+	22	3660		c.e22+1		CUX1_ENST00000393824.3_Intron|CUX1_ENST00000360264.3_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Splice_Site|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Splice_Site	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						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						GAGAAGAAAGGTAAGTCTCCC	0.542																																					.													.	.			0			c.3655+1G>T												54	48	50					7																	101877521		2203	4300	6503	SO:0001630	splice_region_variant	1523	exon22			AGAAAGGTAAGTC	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.3622+1G>T	7.37:g.101877521G>T			46	0	0		50	0.06	3	NM_001202543	0		0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432459	0.83776	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0082	0.92861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX1	101664241	1.000000	0.71417	0.999000	0.59377	0.741000	0.42261	9.745000	0.98856	2.486000	0.83907	0.655000	0.94253	.			0.542	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000347535.1		NM_001913	Intron	T	101877521	G	T	101877521	5	4	4	1	0	0	0	0	0	0	1	0	4066	1275	44	3	3776	3	CUX1	7	101877521	Splice_Site	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	1790915	101877521	57261142	23	202											
FGFR1	2260	mdanderson.org	37	chr8	38273576	38273576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccacgatgacatacaaggGacctgcaggcacaggagaag	14	4	12	11	1	0	2	0	1	0	1	1	5	1	3	2	3	2	2	2	3	3	1			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:38273576G>T	ENST00000447712.2	-	13	2607	c.1666C>A	c.(1666-1668)Ccc>Acc	p.P556T	FGFR1_ENST00000397091.5_Missense_Mutation_p.P554T|FGFR1_ENST00000397113.2_Missense_Mutation_p.P554T|FGFR1_ENST00000397103.1_Missense_Mutation_p.P467T|FGFR1_ENST00000532791.1_Missense_Mutation_p.P554T|FGFR1_ENST00000356207.5_Missense_Mutation_p.P467T|FGFR1_ENST00000397108.4_Missense_Mutation_p.P554T|FGFR1_ENST00000425967.3_Missense_Mutation_p.P587T|FGFR1_ENST00000341462.5_Missense_Mutation_p.P556T|FGFR1_ENST00000326324.6_Missense_Mutation_p.P465T|FGFR1_ENST00000335922.5_Missense_Mutation_p.P546T	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	556	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	ACATACAAGGGACCTGCAGGC	0.627		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														p.P587T	Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	.	.			0			c.C1759A												18	21	20					8																	38273576		2038	4199	6237	SO:0001583	missense	2260	exon14			ACAAGGGACCTGC	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.1666C>A	8.37:g.38273576G>T	ENSP00000400162:p.Pro556Thr		34	0	0		38	0.08	3	NM_001174067	192	0	0	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907922	0.72868	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.47	5.47	0.80525	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	0.90621	0.7059	M	0.66439	2.03	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.98;0.948;0.992;0.986;0.986	D	0.90760	0.4664	10	0.66056	D	0.02	.	19.6948	0.96021	0.0:0.0:1.0:0.0	.	465;465;556;546;554	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	T	554;587;556;556;556;554;554;467;546;465;467;554	ENSP00000380280:P554T;ENSP00000393312:P587T;ENSP00000400162:P556T;ENSP00000340636:P556T;ENSP00000432972:P554T;ENSP00000380302:P554T;ENSP00000348537:P467T;ENSP00000337247:P546T;ENSP00000327229:P465T;ENSP00000380292:P467T;ENSP00000380297:P554T	ENSP00000311337:P556T	P	-	1	0	FGFR1	38392733	1.000000	0.71417	0.986000	0.45419	0.107000	0.19398	9.813000	0.99286	2.723000	0.93209	0.655000	0.94253	CCC			0.627	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding						T	38273576	G	T	38273576	3	4	4	1	0	0	0	0	1	0	0	0	5876	1174	41	3	826	3	FGFR1	8	38273576	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10		38273576	108090446	24	203											
PCMTD1	115294	bcgsc.ca	37	chr8	52733110	52733110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgaggaataagctgattaCccacaaatacgtaagtgtta	15	10	9	7	1	0	2	0	2	0	0	0	3	0	3	1	1	3	4	1	1	7	5			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:52733110C>T	ENST00000360540.5	-	7	1281	c.875G>A	c.(874-876)gGt>gAt	p.G292D	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.G216D|PCMTD1_ENST00000522514.1_Missense_Mutation_p.G292D	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	292						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAGCTGATTACCCACAAATAC	0.398																																					p.G292D													.	PCMTD1	73		0			c.G875A												192	187	189					8																	52733110		2203	4300	6503	SO:0001583	missense	115294	exon6			TGATTACCCACAA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.875G>A	8.37:g.52733110C>T	ENSP00000353739:p.Gly292Asp		156	0.0128205128	2		178	0.06	10	NM_052937	51	0	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501676	0.64298	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.44482	0.92;0.92;0.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	N	0.25485	0.75	0.80722	D	1	D;D;B	0.89917	0.976;1.0;0.004	P;D;B	0.97110	0.661;1.0;0.006	T	0.26258	-1.0108	10	0.08381	T	0.77	-32.1559	20.4239	0.99064	0.0:1.0:0.0:0.0	.	162;216;292	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	D	292;216;292	ENSP00000353739:G292D;ENSP00000444026:G216D;ENSP00000428099:G292D	ENSP00000353739:G292D	G	-	2	0	PCMTD1	52895663	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.046000	0.76592	2.828000	0.97474	0.655000	0.94253	GGT			0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377909.2		NM_052937		T	52733110	C	T	52733110	3	4	4	1	0	0	0	0	1	0	0	0	11603	507	18	3	202	3	PCMTD1	8	52733110	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	14459534	52733110	93630912	25	204			1	2		2	2	35	C		6.150328e-05
PCMTD1	115294	bcgsc.ca	37	chr8	52733144	52733144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgttaattctctgtttaaCtctctttcttttccttttgg	5	23	5	8	0	3	0	0	0	3	0	6	0	4	0	1	1	1	2	1	1	2	9	rs200246241		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:52733144C>T	ENST00000360540.5	-	7	1247	c.841G>A	c.(841-843)Gtt>Att	p.V281I	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.V205I|PCMTD1_ENST00000522514.1_Missense_Mutation_p.V281I	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	281						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CTCTGTTTAACTCTCTTTCTT	0.393																																					p.V281I													.	PCMTD1	73		0			c.G841A																																									SO:0001583	missense	115294	exon6			GTTTAACTCTCTT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.841G>A	8.37:g.52733144C>T	ENSP00000353739:p.Val281Ile		146	0.0273972603	4		169	0.07	11	NM_052937	79	0	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803545	0.31869	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46451	0.87;0.87;0.87	5.97	5.97	0.96955	.	0.260164	0.36972	N	0.002316	T	0.37128	0.0992	L	0.42245	1.32	0.27985	N	0.935891	B;B;B	0.32467	0.039;0.372;0.001	B;B;B	0.35770	0.024;0.21;0.002	T	0.27905	-1.0060	10	0.21540	T	0.41	-33.7683	13.3218	0.60436	0.2592:0.7408:0.0:0.0	.	151;205;281	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	I	281;205;281	ENSP00000353739:V281I;ENSP00000444026:V205I;ENSP00000428099:V281I	ENSP00000353739:V281I	V	-	1	0	PCMTD1	52895697	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.921000	0.70028	2.828000	0.97474	0.655000	0.94253	GTT			0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377909.2		NM_052937		T	52733144	C	T	52733144	3	4	4	1	0	0	0	0	1	0	0	0	11603	565	20	3	236	3	PCMTD1	8	52733144	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	34	52733144	93630878	26	205			1	2		2	2	35	C		6.150328e-05
PKHD1L1	93035	mdanderson.org	37	chr8	110374854	110374854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttggggcctctgtgggctGctcctgtgtgccgcggatcc	2	12	15	12	2	1	0	0	0	1	0	3	1	3	1	4	4	2	2	4	4	0	1			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:110374854G>A	ENST00000378402.5	+	1	149	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	15					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)			TCTGTGGGCTGCTCCTGTGTG	0.642										HNSCC(38;0.096)																											p.L15L													.	.			0			c.G45A												40	46	44					8																	110374854		1929	4150	6079	SO:0001819	synonymous_variant	93035	exon1			TGGGCTGCTCCTG	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.45G>A	8.37:g.110374854G>A			110	0	0		83	0.05	4	NM_177531	0		0	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																					0.642	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381017.1		NM_177531		A	110374854	G	A	110374854	2	1	4	1	0	0	0	0	0	0	0	1	11989	1306	46	2		2	PKHD1L1	8	110374854	Silent	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	57641710	110374854	35989168	27	206											
AQP7	364	bcgsc.ca	37	chr9	33385740	33385740	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatcctgtgttcatgccaAgggacaccccgatgatgacc	10	9	9	13	1	1	2	1	2	0	0	2	4	2	3	5	1	1	1	5	1	2	2	rs201773300		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr9:33385740A>T	ENST00000537089.1	-	6	692	c.374T>A	c.(373-375)cTt>cAt	p.L125H	AQP7_ENST00000377425.4_Missense_Mutation_p.L160H|AQP7_ENST00000539936.1_Missense_Mutation_p.L217H|AQP7_ENST00000541274.1_Silent_p.P85P			O14520	AQP7_HUMAN	aquaporin 7	217					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GTTCATGCCAAGGGACACCCC	0.587																																					p.L217H													.	AQP7	58		0			c.T650A												118	110	113					9																	33385740		2203	4300	6503	SO:0001583	missense	364	exon7			ATGCCAAGGGACA	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.374T>A	9.37:g.33385740A>T	ENSP00000441619:p.Leu125His		33	0	0		30	0.23	7	NM_001170	0		0	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	a	10.26	1.301442	0.23736	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.04	3.88	0.44766	Aquaporin-like (2);	0.174799	0.45867	D	0.000332	T	0.79464	0.4450	.	.	.	0.43043	D	0.994634	B;B;B;B	0.15719	0.014;0.006;0.008;0.004	B;B;B;B	0.23852	0.049;0.049;0.03;0.044	T	0.74144	-0.3760	9	0.49607	T	0.09	-3.8382	9.381	0.38313	0.8402:0.0:0.0:0.1598	.	216;217;160;217	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	H	125;216;85;217;160;125;216;217;153	ENSP00000441619:L125H;ENSP00000368821:L216H;ENSP00000412868:L85H;ENSP00000297988:L217H;ENSP00000396111:L160H;ENSP00000410138:L125H;ENSP00000368820:L216H;ENSP00000439534:L217H;ENSP00000368817:L153H	ENSP00000297988:L217H	L	-	2	0	AQP7	33375740	1.000000	0.71417	0.043000	0.18650	0.009000	0.06853	8.795000	0.91872	0.918000	0.36919	0.449000	0.29647	CTT			0.587	AQP7-202	KNOWN	basic	protein_coding	protein_coding				NM_001170		T	33385740	A	T	33385740	3	4	4	1	0	0	0	0	1	0	0	0	831	72	3	5	386	5	AQP7	9	33385740	Missense_Mutation	SNP	A	TCGA-2G-AAF4-01A-11D-A42Y-10		33385740	107827691	28	207											
TMEM8B	51754	broad.mit.edu;mdanderson.org	37	chr9	35846298	35846298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgtcagtgccaccaccagGgttgccaggctgcgaatccc	7	8	11	15	1	2	0	1	0	1	0	3	1	3	0	5	2	3	2	5	2	1	1			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr9:35846298G>T	ENST00000377991.4	+	9	1432	c.417G>T	c.(415-417)agG>agT	p.R139S	TMEM8B_ENST00000473947.1_3'UTR|TMEM8B_ENST00000377988.2_Missense_Mutation_p.R139S|TMEM8B_ENST00000377996.1_Missense_Mutation_p.R139S|TMEM8B_ENST00000439587.2_Missense_Mutation_p.R139S	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	139					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCACCACCAGGGTTGCCAGGC	0.677																																					p.R139S													.	TMEM8B	53		0			c.G417T												40	45	43					9																	35846298		2203	4300	6503	SO:0001583	missense	51754	exon8			CACCAGGGTTGCC	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.417G>T	9.37:g.35846298G>T	ENSP00000367230:p.Arg139Ser		96	0	0		78	0.05	4	NM_001042590	10	0	0	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	G	4.006	-0.001477	0.07819	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.42513	0.97;0.97;0.99;0.99	5.45	-2.87	0.05700	.	0.300958	0.37095	N	0.002259	T	0.14442	0.0349	N	0.12961	0.28	0.09310	N	1	B;B	0.27791	0.0;0.189	B;B	0.25140	0.0;0.058	T	0.23013	-1.0200	10	0.07990	T	0.79	-5.2984	1.9911	0.03446	0.4799:0.1238:0.2765:0.1199	.	139;503	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	S	139	ENSP00000367235:R139S;ENSP00000395810:R139S;ENSP00000367230:R139S;ENSP00000367227:R139S	ENSP00000367227:R139S	R	+	3	2	TMEM8B	35836298	0.808000	0.29022	0.854000	0.33618	0.063000	0.16089	0.122000	0.15687	-0.425000	0.07371	-1.138000	0.01928	AGG			0.677	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052388.2		NM_016446		T	35846298	G	T	35846298	3	4	4	1	0	0	0	0	1	0	0	0	16238	1223	43	3	427	3	TMEM8B	9	35846298	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	2460558	35846298	105367133	29	208											
FKBP15	23307	mdanderson.org	37	chr9	115955813	115955813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgagggagttagatttggTacgaagagctggctccctga	10	10	14	7	1	0	4	0	2	0	2	1	6	1	5	1	3	2	4	1	3	3	3			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr9:115955813T>C	ENST00000238256.3	-	11	1141	c.1024A>G	c.(1024-1026)Acc>Gcc	p.T342A		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	342					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTAGATTTGGTACGAAGAGCT	0.383																																					p.T342A													.	.			0			c.A1024G												69	65	66					9																	115955813		1884	4101	5985	SO:0001583	missense	23307	exon11			ATTTGGTACGAAG	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1024A>G	9.37:g.115955813T>C	ENSP00000238256:p.Thr342Ala		81	0	0		58	0.05	3	NM_015258	21	0.05	1	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	T	2.710	-0.268994	0.05716	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.27557	2.09;2.1;1.66	5.39	-3.85	0.04243	.	.	.	.	.	T	0.06872	0.0175	N	0.01352	-0.895	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	0.31475	-0.9942	9	0.02654	T	1	0.4618	4.6338	0.12514	0.5121:0.2177:0.0:0.2701	.	342;342;342	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	A	367;342;367	ENSP00000416158:T367A;ENSP00000238256:T342A;ENSP00000415733:T367A	ENSP00000238256:T342A	T	-	1	0	FKBP15	114995634	0.002000	0.14202	0.183000	0.23137	0.971000	0.66376	-0.467000	0.06664	-0.875000	0.04022	0.524000	0.50904	ACC			0.383	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_015258		C	115955813	T	C	115955813	3	2	4	1	0	0	0	0	1	0	0	0	5918	1638	57	4	2707	4	FKBP15	9	115955813	Missense_Mutation	SNP	T	TCGA-2G-AAF4-01A-11D-A42Y-10	80109515	115955813	25257618	30	209											
SEC16A	9919	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139360565	139360565	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaggaaccggcagccacAttgtggcttctgtaaatctg	9	11	11	10	2	2	0	0	0	2	0	3	1	2	1	2	3	2	4	2	3	4	4			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr9:139360565A>G	ENST00000371706.3	-	6	3651	c.3618T>C	c.(3616-3618)aaT>aaC	p.N1206N	SEC16A_ENST00000290037.6_Silent_p.N1206N|SEC16A_ENST00000313050.7_Silent_p.N1384N|SEC16A_ENST00000431893.2_Silent_p.N1206N			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1206	Required for endoplasmic reticulum localization.				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)		CGGCAGCCACATTGTGGCTTC	0.517																																					p.N1384N													.	SEC16A	249		0			c.T4152C												38	47	44					9																	139360565		1992	4174	6166	SO:0001819	synonymous_variant	9919	exon8			AGCCACATTGTGG	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	ENST00000371706.3:c.3618T>C	9.37:g.139360565A>G			61	0	0		42	0.1	4	NM_014866	49	0.1	5	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	A	0.657	-0.807262	0.02819	.	.	ENSG00000148396	ENST00000433860	.	.	.	5.76	-7.37	0.01412	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37753	-0.9692	4	.	.	.	-0.1187	11.4127	0.49935	0.2599:0.102:0.6381:0.0	.	.	.	.	R	81	.	.	C	-	1	0	SEC16A	138480386	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.826000	0.04429	-1.243000	0.02519	-0.274000	0.10170	TGT			0.517	SEC16A-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000055077.1		XM_088459		G	139360565	A	G	139360565	2	3	4	1	0	0	0	0	0	0	0	1	14009	214	8	4		4	SEC16A	9	139360565	Silent	SNP	A	TCGA-2G-AAF4-01A-11D-A42Y-10	23404752	139360565	1852866	31	210											
ITIH5	80760	mdanderson.org	37	chr10	7614301	7614301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttattatagttccaggatgCtggcaaaaggaaatttcatg	13	14	9	5	0	1	0	1	0	0	0	2	2	2	2	1	3	1	3	1	3	6	6	rs141124086		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr10:7614301C>T	ENST00000397145.2	-	12	2198	c.2093G>A	c.(2092-2094)aGc>aAc	p.S698N	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000298441.6_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	0					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCCAGGATGCTGGCAAAAGG	0.388																																					p.S698N													.	.			0			c.G2093A												85	82	83					10																	7614301		1828	4084	5912	SO:0001583	missense	80760	exon12			AGGATGCTGGCAA			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000397145.2:c.2093G>A	10.37:g.7614301C>T	ENSP00000380332:p.Ser698Asn		38	0	0		44	0.07	3	NM_001001851	0		0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000397145.2	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.441	1.088156	0.20390	.	.	ENSG00000123243	ENST00000397145	T	0.02682	4.2	4.93	-6.99	0.01605	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48445	-0.9035	9	0.54805	T	0.06	.	4.359	0.11192	0.1109:0.2095:0.1093:0.5703	.	698	G5E9D8	.	N	698	ENSP00000380332:S698N	ENSP00000380332:S698N	S	-	2	0	ITIH5	7654307	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.312000	0.02720	-1.442000	0.01955	-1.058000	0.02302	AGC	0		0.388	ITIH5-201	KNOWN	basic	protein_coding	protein_coding				NM_030569		T	7614301	C	T	7614301	3	4	4	1	0	0	0	0	1	0	0	0	7922	797	28	2	870	2	ITIH5	10	7614301	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10		7614301	127920446	32	211											
ZFYVE27	118813	broad.mit.edu	37	chr10	99498419	99498419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgcaggtgatggtgttcGatacttgctcaggtacagac	9	11	14	7	1	1	2	1	1	0	1	2	4	1	3	0	4	4	4	0	4	2	4			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr10:99498419G>A	ENST00000393677.4	+	2	389	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	ZFYVE27_ENST00000453958.2_Missense_Mutation_p.R62Q|ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.R62Q|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.R62Q|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.R62Q|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.R62Q|ZFYVE27_ENST00000370610.3_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	62	Necessary for interaction with RAB11A and function in neurite outgrowth.				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)		GATGGTGTTCGATACTTGCTC	0.507																																					p.R62Q													.	ZFYVE27	31		0			c.G185A												122	121	121					10																	99498419		2203	4300	6503	SO:0001583	missense	118813	exon1			GTGTTCGATACTT	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.185G>A	10.37:g.99498419G>A	ENSP00000377282:p.Arg62Gln		135	0	0		109	0.04	4	NM_001002261	20	0	0	B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503434	0.64298	.	.	ENSG00000155256	ENST00000357540;ENST00000370613;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T	0.35789	1.31;1.31;1.29;1.3;1.31	5.04	4.04	0.47022	.	0.216532	0.39687	N	0.001300	T	0.32763	0.0840	L	0.29908	0.895	0.80722	D	1	P;P;P;D;P	0.61697	0.892;0.935;0.935;0.99;0.892	B;B;B;P;B	0.49665	0.197;0.36;0.36;0.618;0.197	T	0.08932	-1.0698	10	0.72032	D	0.01	-7.4622	9.5053	0.39042	0.0822:0.0:0.7641:0.1537	.	62;62;62;62;62	B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;ZFY27_HUMAN	Q	62;62;62;62;62;62;40	ENSP00000377282:R62Q;ENSP00000401580:R62Q;ENSP00000353069:R62Q;ENSP00000348593:R62Q;ENSP00000409594:R40Q	ENSP00000348593:R62Q	R	+	2	0	ZFYVE27	99488409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.749000	0.47492	2.331000	0.79229	0.561000	0.74099	CGA			0.507	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000049745.2		NM_144588		A	99498419	G	A	99498419	3	1	4	1	0	0	0	0	1	0	0	0	17692	1058	37	1	187	1	ZFYVE27	10	99498419	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	91884118	99498419	36036328	33	212											
MUC2	4583	mdanderson.org	37	chr11	1082661	1082661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgtcctcctacgcgcGcgcctgcaccgccaagggcg	4	5	12	20	7	0	0	0	0	0	0	2	0	2	0	6	1	2	1	6	1	2	1			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:1082661G>A	ENST00000441003.2	+	15	1937	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	MUC2_ENST00000359061.5_Missense_Mutation_p.R637H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	637					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)	TCCTACGCGCGCGCCTGCACC	0.657																																					p.R637H													.	.			0			c.G1910A												35	41	39					11																	1082661		2115	4231	6346	SO:0001583	missense	4583	exon15			ACGCGCGCGCCTG	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.1910G>A	11.37:g.1082661G>A	ENSP00000415183:p.Arg637His		56	0	0		29	0.1	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	g	7.882	0.730429	0.15507	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.77750	-1.12;-1.12	4.3	-4.21	0.03812	.	1.110310	0.07007	N	0.824423	T	0.62913	0.2467	L	0.35487	1.065	0.09310	N	1	P	0.38195	0.622	B	0.41691	0.364	T	0.52170	-0.8611	10	0.07644	T	0.81	.	6.6315	0.22859	0.4389:0.0:0.4506:0.1105	.	637	E7EUV1	.	H	637	ENSP00000415183:R637H;ENSP00000351956:R637H	ENSP00000351956:R637H	R	+	2	0	MUC2	1072661	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.195000	0.17155	-0.705000	0.05035	-1.220000	0.01600	CGC			0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		A	1082661	G	A	1082661	3	1	4	1	0	0	0	0	1	0	0	0	9991	1087	38	1	1968	1	MUC2	11	1082661	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10		1082661	133923855	34	213											
CTNND1	1500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57576927	57576927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgagaagctggtgttgatCaacaaatcagggtgagctta	13	11	12	5	0	2	3	2	3	0	1	2	4	2	3	0	2	3	3	0	2	4	3			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:57576927C>G	ENST00000399050.4	+	15	2960	c.2424C>G	c.(2422-2424)atC>atG	p.I808M	CTNND1_ENST00000530094.1_Missense_Mutation_p.I701M|CTNND1_ENST00000533667.1_Missense_Mutation_p.I479M|CTNND1_ENST00000532245.1_Missense_Mutation_p.I701M|CTNND1_ENST00000532787.1_Missense_Mutation_p.I701M|CTNND1_ENST00000426142.2_Missense_Mutation_p.I701M|CTNND1_ENST00000529526.1_Missense_Mutation_p.I748M|CTNND1_ENST00000524630.1_Missense_Mutation_p.I802M|CTNND1_ENST00000526357.1_Missense_Mutation_p.I748M|CTNND1_ENST00000534579.1_Missense_Mutation_p.I748M|CTNND1_ENST00000358694.6_Missense_Mutation_p.I802M|CTNND1_ENST00000360682.6_Missense_Mutation_p.I808M|CTNND1_ENST00000399039.4_Missense_Mutation_p.I808M|CTNND1_ENST00000531014.1_Missense_Mutation_p.I479M|CTNND1_ENST00000526772.1_Missense_Mutation_p.I479M|CTNND1_ENST00000361796.4_Missense_Mutation_p.I802M|CTNND1_ENST00000530748.1_Missense_Mutation_p.I754M|CTNND1_ENST00000528621.1_Missense_Mutation_p.I748M|CTNND1_ENST00000361391.6_Missense_Mutation_p.I802M|CTNND1_ENST00000428599.2_Missense_Mutation_p.I802M|CTNND1_ENST00000532649.1_Missense_Mutation_p.I748M|CTNND1_ENST00000526938.1_Missense_Mutation_p.I808M|CTNND1_ENST00000529919.1_Missense_Mutation_p.I808M|CTNND1_ENST00000528232.1_Missense_Mutation_p.I707M|CTNND1_ENST00000527467.1_Missense_Mutation_p.I485M|CTNND1_ENST00000525902.1_Missense_Mutation_p.I485M|CTNND1_ENST00000529986.1_Missense_Mutation_p.I701M|CTNND1_ENST00000532844.1_Missense_Mutation_p.I754M|CTNND1_ENST00000415361.2_Missense_Mutation_p.I707M|CTNND1_ENST00000532463.1_Missense_Mutation_p.I701M|CTNND1_ENST00000529873.1_Missense_Mutation_p.I748M|CTNND1_ENST00000361332.4_Missense_Mutation_p.I802M	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	808					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)				TGGTGTTGATCAACAAATCAG	0.403																																					p.I808M													.	.			0			c.C2424G												55	57	56					11																	57576927		1870	4101	5971	SO:0001583	missense	1500	exon15			GTTGATCAACAAA	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.2424C>G	11.37:g.57576927C>G	ENSP00000382004:p.Ile808Met		85	0	0		55	0.25	14	NM_001085458	136	0.46	63	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969558	0.74246	.	.	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	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	M	0.63428	1.95	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.994;0.997;0.997;0.997;0.991;0.997;0.994	T	0.66889	-0.5809	10	0.87932	D	0	-7.2885	12.7544	0.57325	0.0:0.9244:0.0:0.0756	.	808;802;808;701;748;748;802;808;808	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	M	802;808;808;808;802;748;701;808;802;802;701;701;802;701;479;748;748;754;802;485;707;479;479;748;485;754;748;701;707;701;748;808	ENSP00000436543:I802M;ENSP00000434808:I808M;ENSP00000381996:I808M;ENSP00000353902:I808M;ENSP00000354907:I802M;ENSP00000436323:I748M;ENSP00000409930:I701M;ENSP00000382004:I808M;ENSP00000354785:I802M;ENSP00000354823:I802M;ENSP00000432075:I701M;ENSP00000437156:I701M;ENSP00000351527:I802M;ENSP00000434949:I701M;ENSP00000437051:I479M;ENSP00000435379:I748M;ENSP00000432243:I748M;ENSP00000436744:I754M;ENSP00000413586:I802M;ENSP00000434900:I485M;ENSP00000435266:I707M;ENSP00000432623:I479M;ENSP00000433158:I479M;ENSP00000435494:I748M;ENSP00000434672:I485M;ENSP00000433276:I754M;ENSP00000433334:I748M;ENSP00000437327:I701M;ENSP00000403518:I707M;ENSP00000434017:I701M;ENSP00000435789:I748M;ENSP00000432041:I808M	ENSP00000351527:I802M	I	+	3	3	CTNND1	57333503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.470000	0.35354	2.692000	0.91855	0.655000	0.94253	ATC			0.403	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000393944.1		NM_001331		G	57576927	C	G	57576927	3	3	4	1	0	0	0	0	1	0	0	0	4021	816	29	5	2474	5	CTNND1	11	57576927	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	56494266	57576927	77429589	35	214											
VWCE	220001	mdanderson.org	37	chr11	61042028	61042028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacacagccccgtctgcGtaccaccggccgtggaaata	10	6	10	15	4	1	1	0	1	1	0	1	2	1	2	5	2	4	1	5	2	4	2			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:61042028G>A	ENST00000335613.5	-	12	1910	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552																																					p.Y508Y													.	.			0			c.C1524T												197	125	149					11																	61042028		2203	4299	6502	SO:0001819	synonymous_variant	220001	exon12			GTCTGCGTACCAC	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1524C>T	11.37:g.61042028G>A			85	0	0		47	0.06	3	NM_152718	8	0	0	A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	CCDS8002.1																																																																																					0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398811.1		NM_152718		A	61042028	G	A	61042028	2	1	4	1	0	0	0	0	0	0	0	1	17269	1140	40	1		1	VWCE	11	61042028	Silent	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	3465101	61042028	73964488	36	215											
LTBP3	4054	broad.mit.edu	37	chr11	65313978	65313978	+	Frame_Shift_Del	DEL	G	G	-																															aggtgcagcggaaggagcccGggaggttctcgcaccagcca																										TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:65313978delG	ENST00000301873.5	-	16	2556	c.2288delC	c.(2287-2289)ccgfs	p.P763fs	LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.P763fs|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.P193fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.P389fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	763	Cys-rich.|EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						GAAGGAGCCCGGGAGGTTCTC	0.741																																					p.P763fs													.	LTBP3	55		0			c.2288delC												14	22	19					11																	65313978		2199	4289	6488	SO:0001589	frameshift_variant	4054	exon16			GAGCCCGGGAGGT	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.2288delC	11.37:g.65313978delG	ENSP00000301873:p.Pro763fs		17	0	0		6	0.33	2	NM_001130144	13	0	0	O15107|Q96HB9|Q9H7K2|Q9UFN4	Frame_Shift_Del	DEL	ENST00000301873.5	37	CCDS44647.1																																																																																					0.741	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390538.1		NM_021070		-	65313978	G	-	65313978	7	5	4	1	0	1	0	1	0	0	0	0	9091	1116	39	0	1675	0	LTBP3	11	65313978	Frame_Shift_Del	DEL	G	TCGA-2G-AAF4-01A-11D-A42Y-10	4271950	65313978	69692538	37	216											
PDE2A	5138	mdanderson.org	37	chr11	72288474	72288474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgatgggggccctagtgCcatccagatcaggcacctcg	8	8	12	13	1	1	2	1	1	0	1	3	2	2	2	4	3	1	1	4	3	1	2			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:72288474C>G	ENST00000334456.5	-	31	3025	c.2780G>C	c.(2779-2781)gGc>gCc	p.G927A	PDE2A_ENST00000418754.2_Missense_Mutation_p.G812A|PDE2A_ENST00000376450.3_Missense_Mutation_p.G671A|PDE2A_ENST00000444035.2_Missense_Mutation_p.G918A|PDE2A_ENST00000540345.1_Missense_Mutation_p.G918A|PDE2A_ENST00000544570.1_Missense_Mutation_p.G920A	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	927					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGCCCTAGTGCCATCCAGATC	0.607																																					p.G927A													PDE2A_ENST00000544570,NS,carcinoma,-1,3	PDE2A_ENST00000544570	-1	3	0			c.G2780C												105	87	93					11																	72288474		2200	4293	6493	SO:0001583	missense	5138	exon31			CTAGTGCCATCCA	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2780G>C	11.37:g.72288474C>G	ENSP00000334910:p.Gly927Ala		57	0	0		48	0.06	3	NM_002599	52	0	0	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307684	0.40795	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000544570;ENST00000418754;ENST00000540345	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.13	2.2	0.27929	.	0.414201	0.24426	N	0.038639	T	0.52789	0.1756	N	0.14661	0.345	0.09310	N	0.999992	B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.003;0.002;0.001	B;B;B;B;B;B	0.09377	0.001;0.001;0.001;0.003;0.002;0.004	T	0.22034	-1.0228	10	0.14656	T	0.56	.	3.5718	0.07920	0.1755:0.565:0.1693:0.0903	.	812;927;918;920;927;671	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	A	927;671;918;920;812;918	ENSP00000334910:G927A;ENSP00000365633:G671A;ENSP00000411657:G918A;ENSP00000442256:G920A;ENSP00000410310:G812A;ENSP00000446399:G918A	ENSP00000334910:G927A	G	-	2	0	PDE2A	71966122	0.028000	0.19301	0.021000	0.16686	0.970000	0.65996	2.117000	0.41939	0.827000	0.34685	0.655000	0.94253	GGC			0.607	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219839.2		NM_002599		G	72288474	C	G	72288474	3	3	4	1	0	0	0	0	1	0	0	0	11653	739	26	5	49	5	PDE2A	11	72288474	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	6974496	72288474	62718042	38	217											
TECTA	7007	ucsc.edu;bcgsc.ca	37	chr11	120996448	120996448	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaccccactgcttttgtGcacagctgcgtgtatgacct	6	12	11	12	1	0	1	0	1	0	0	0	2	0	2	3	1	4	4	3	1	1	3			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:120996448G>T	ENST00000392793.1	+	8	1912	c.1641G>T	c.(1639-1641)gtG>gtT	p.V547V	TECTA_ENST00000264037.2_Silent_p.V547V			O75443	TECTA_HUMAN	tectorin alpha	547					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)		CTGCTTTTGTGCACAGCTGCG	0.577																																					p.V547V													.	TECTA	329		0			c.G1641T												126	123	124					11																	120996448		2203	4299	6502	SO:0001819	synonymous_variant	7007	exon7			TTTTGTGCACAGC	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.1641G>T	11.37:g.120996448G>T			82	0	0		41	0.1	4	NM_005422	0		0		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																					0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313850.1		NM_005422		T	120996448	G	T	120996448	2	4	4	1	0	0	0	0	0	0	0	1	15770	1306	46	2		2	TECTA	11	120996448	Silent	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	48707974	120996448	14010068	39	218											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	14	8	11	1	2	2	1	1	1	1	4	3	3	2	2	0	3	3	2	0	3	4	rs121913240		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr12:25380276T>A	ENST00000256078.4	-	3	245	c.182A>T	c.(181-183)cAa>cTa	p.Q61L	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61L|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)																											p.Q61L	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,+1,429	KRAS_ENST00000256078	1	429	141	Substitution - Missense(141)	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)	c.A182T												109	97	101					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	exon3	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	TCCTCTTGACCTG	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>T	12.37:g.25380276T>A	ENSP00000256078:p.Gln61Leu		124	0	0		132	0.14	19	NM_004985	108	0.14	15	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.889058	0.91814	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83992	-1.79;-1.79	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.92097	0.7495	H	0.96333	3.805	0.80722	D	1	D;P	0.58970	0.984;0.812	P;P	0.53689	0.732;0.69	D	0.94295	0.7532	10	0.72032	D	0.01	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	L	61	ENSP00000308495:Q61L;ENSP00000256078:Q61L	ENSP00000256078:Q61L	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		A	25380276	T	A	25380276	3	1	4	1	0	0	0	0	1	0	0	0	8453	1812	63	5	520	5	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-2G-AAF4-01A-11D-A42Y-10		25380276	108471619	40	219											
PA2G4	5036	bcgsc.ca;mdanderson.org	37	chr12	56500421	56500421	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaggtgtgtcggtactGagcctgtgtgagaaaggtga	9	10	16	6	1	1	3	1	3	0	1	2	4	1	3	1	3	3	2	1	3	2	1			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr12:56500421G>T	ENST00000303305.6	+	2	557	c.138G>T	c.(136-138)ctG>ctT	p.L46L	RP11-603J24.9_ENST00000548861.1_Silent_p.L27L|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.L46L	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	46	Necessary for nucleolar localization.|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)			tgtcggtactgagcctgtgtg	0.418																																					p.L46L													.	PA2G4	24		0			c.G138T												82	76	78					12																	56500421		2201	4300	6501	SO:0001819	synonymous_variant	5036	exon2			GGTACTGAGCCTG	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.138G>T	12.37:g.56500421G>T			53	0	0		76	0.07	5	NM_006191	814	0	0	O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	CCDS8902.1																																																																																					0.418	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407767.1		NM_006191		T	56500421	G	T	56500421	2	4	4	1	0	0	0	0	0	0	0	1	11378	1277	45	3		3	PA2G4	12	56500421	Silent	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	31120145	56500421	77351474	41	220											
SIX6	4990	mdanderson.org	37	chr14	60976369	60976369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaccaaggagtcgcacGccaagctgcaggcgctgtgg	9	6	14	12	3	1	0	1	0	0	0	2	1	1	1	2	3	2	5	2	3	2	1			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr14:60976369G>A	ENST00000327720.5	+	1	701	c.253G>A	c.(253-255)Gcc>Acc	p.A85T		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	85					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGAGTCGCACGCCAAGCTGCA	0.577																																					p.A85T													SIX6,colon,carcinoma,0,1	SIX6	0	1	0			c.G253A												43	44	44					14																	60976369		2203	4300	6503	SO:0001583	missense	4990	exon1			TCGCACGCCAAGC	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.253G>A	14.37:g.60976369G>A	ENSP00000328596:p.Ala85Thr		49	0	0		48	0.08	4	NM_007374	0		0	Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342073	0.41498	.	.	ENSG00000184302	ENST00000327720	D	0.97161	-4.27	5.52	4.62	0.57501	.	0.156038	0.64402	D	0.000018	D	0.92912	0.7745	L	0.31476	0.935	0.37365	D	0.911375	B	0.02656	0.0	B	0.04013	0.001	D	0.90535	0.4498	10	0.48119	T	0.1	.	8.5282	0.33317	0.0754:0.0:0.7703:0.1543	.	85	O95475	SIX6_HUMAN	T	85	ENSP00000328596:A85T	ENSP00000328596:A85T	A	+	1	0	SIX6	60046122	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.331000	0.43894	1.543000	0.49345	0.563000	0.77884	GCC			0.577	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276952.2				A	60976369	G	A	60976369	3	1	4	1	0	0	0	0	1	0	0	0	14374	1087	38	1	255	1	SIX6	14	60976369	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10		60976369	46373171	42	221											
SYNE2	23224	broad.mit.edu	37	chr14	64675556	64675556	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcctactgcacgactcCgatgcctgtgcaaatgagac	10	8	10	13	3	0	1	0	1	0	1	2	5	2	1	3	0	4	2	3	0	2	1	rs201056822		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr14:64675556C>A	ENST00000344113.4	+	101	18494	c.18282C>A	c.(18280-18282)tcC>tcA	p.S6094S	SYNE2_ENST00000357395.3_Silent_p.S2479S|SYNE2_ENST00000394768.2_Silent_p.S2479S|SYNE2_ENST00000554584.1_Silent_p.S6056S|SYNE2_ENST00000358025.3_Silent_p.S6094S|SYNE2_ENST00000555002.1_Silent_p.S2728S|SYNE2_ENST00000555022.1_5'UTR|SYNE2_ENST00000554805.1_5'Flank|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6094					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)		TGCACGACTCCGATGCCTGTG	0.532																																					p.S6094S													.	SYNE2	577		0			c.C18282A												121	94	103					14																	64675556		2203	4300	6503	SO:0001819	synonymous_variant	23224	exon101			CGACTCCGATGCC	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.18282C>A	14.37:g.64675556C>A			105	0.0095238095	1		74	0.04	3	NM_182914	225	0	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																					0.532	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276994.2		NM_182914		A	64675556	C	A	64675556	2	1	4	1	0	0	0	0	0	0	0	1	15469	639	23	1		1	SYNE2	14	64675556	Silent	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	3699187	64675556	42673984	43	222											
CILP	8483	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr15	65490079	65490079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagatagggctgagggaCgccaattgcatttgggttga	9	11	16	5	1	0	3	0	3	0	1	0	5	0	4	1	3	1	4	1	3	2	5	rs376060973	byFrequency	TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr15:65490079C>T	ENST00000261883.4	-	9	2711	c.2545G>A	c.(2545-2547)Gtc>Atc	p.V849I		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	849					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGCTGAGGGACGCCAATTGCA	0.527													C|||	2	0.000399361	0	0	5008	,	,		20330	0		0	False		,,,				2504	0.002				p.V849I													.	CILP	124		0			c.G2545A							C	ILE/VAL	0,4402		0,0,2201	126	107	113		2545	5.5	1	15		113	1,8595	1.2+/-3.3	0,1,4297	no	missense	CILP	NM_003613.3	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	849/1185	65490079	1,12997	2201	4298	6499	SO:0001583	missense	8483	exon9			GAGGGACGCCAAT	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2545G>A	15.37:g.65490079C>T	ENSP00000261883:p.Val849Ile		19	0	0		29	0.14	4	NM_003613	10	0.1	1	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681005	0.29872	0.0	1.16E-4	ENSG00000138615	ENST00000261883	T	0.10763	2.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.17577	0.0422	M	0.65975	2.015	0.80722	D	1	D	0.60160	0.987	B	0.42916	0.402	T	0.01252	-1.1405	10	0.46703	T	0.11	-25.2129	18.7051	0.91635	0.0:1.0:0.0:0.0	.	849	O75339	CILP1_HUMAN	I	849	ENSP00000261883:V849I	ENSP00000261883:V849I	V	-	1	0	CILP	63277132	1.000000	0.71417	0.973000	0.42090	0.045000	0.14185	7.772000	0.85439	2.724000	0.93272	0.563000	0.77884	GTC			0.527	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256829.1		NM_003613		T	65490079	C	T	65490079	3	4	4	1	0	0	0	0	1	0	0	0	3431	536	19	1	1013	1	CILP	15	65490079	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10		65490079	37041313	44	223											
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30749732	30749732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctagtgccagcccgggaagcCcgtctgtccgcagcatgtca	7	7	12	15	3	2	0	1	0	1	0	3	1	3	1	4	1	4	2	4	1	2	1			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr16:30749732C>A	ENST00000262518.4	+	34	8756	c.8371C>A	c.(8371-8373)Ccg>Acg	p.P2791T	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633T|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729T|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2791	Pro-rich.				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)			CCCGGGAAGCCCGTCTGTCCG	0.662																																					p.P2791T													SRCAP,NS,carcinoma,-1,1	SRCAP	-1	1	0			c.C8371A												55	62	60					16																	30749732		2197	4300	6497	SO:0001583	missense	10847	exon34			GGAAGCCCGTCTG	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.8371C>A	16.37:g.30749732C>A	ENSP00000262518:p.Pro2791Thr		56	0	0		65	0.17	11	NM_006662	142	0.23	32	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	0.238	-1.015749	0.02078	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91124	-2.77;-2.79;-2.79	5.04	4.02	0.46733	.	0.266926	0.27122	N	0.020822	T	0.77745	0.4176	N	0.08118	0	0.23542	N	0.997456	B;B	0.15930	0.015;0.008	B;B	0.13407	0.009;0.004	T	0.65253	-0.6213	10	0.72032	D	0.01	-8.0891	4.9725	0.14123	0.2116:0.6799:0.0:0.1085	.	2729;2791	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	2791;2729;2633	ENSP00000262518:P2791T;ENSP00000378499:P2729T;ENSP00000343042:P2633T	ENSP00000262518:P2791T	P	+	1	0	SRCAP	30657233	0.067000	0.21026	0.994000	0.49952	0.073000	0.16967	1.091000	0.30915	2.629000	0.89072	0.591000	0.81541	CCG			0.662	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255523.1		NM_006662		A	30749732	C	A	30749732	3	1	4	1	0	0	0	0	1	0	0	0	15158	623	22	3	8497	3	SRCAP	16	30749732	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10		30749732	59605021	45	224											
NEURL4	84461	mdanderson.org	37	chr17	7226392	7226392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcgcatccaggtcaCacccataattgttgcgcatc	9	9	8	15	2	1	0	1	0	0	0	3	0	2	0	3	1	3	3	3	1	1	3			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:7226392C>T	ENST00000399464.2	-	15	2483	c.2468G>A	c.(2467-2469)tGt>tAt	p.C823Y	NEURL4_ENST00000570460.1_Missense_Mutation_p.C801Y|NEURL4_ENST00000315614.7_Missense_Mutation_p.C823Y	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	823	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCCAGGTCACACCCATAATT	0.577																																					p.C823Y													.	.			0			c.G2468A												63	62	62					17																	7226392		2192	4277	6469	SO:0001583	missense	84461	exon15			AGGTCACACCCAT		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2468G>A	17.37:g.7226392C>T	ENSP00000382390:p.Cys823Tyr		70	0	0		48	0.06	3	NM_001005408	22	0	0	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924492	0.92319	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.72167	1.39;-0.63	5.37	5.37	0.77165	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	M	0.67953	2.075	0.53688	D	0.999975	D;D	0.76494	0.999;0.99	D;P	0.65010	0.931;0.643	T	0.82892	-0.0232	10	0.56958	D	0.05	-12.8861	18.25	0.89998	0.0:1.0:0.0:0.0	.	823;823	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	Y	823	ENSP00000319826:C823Y;ENSP00000382390:C823Y	ENSP00000319826:C823Y	C	-	2	0	NEURL4	7167116	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	5.588000	0.67517	2.687000	0.91594	0.563000	0.77884	TGT			0.577	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255434.2		NM_032442		T	7226392	C	T	7226392	3	4	4	1	0	0	0	0	1	0	0	0	10364	478	17	3	2280	3	NEURL4	17	7226392	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10		7226392	73968818	46	225											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		210	0.0333333333	7		146	0.04	6	NM_145301	23	0.52	12	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	4	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	8230695	15457087	65738123	47	226											
CNP	1267	mdanderson.org	37	chr17	40125872	40125872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcttcacggggtactacgGgaaaggcaaacctgtgccca	11	7	11	12	2	2	0	1	0	1	0	2	1	2	1	2	4	4	2	2	4	4	3			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:40125872G>T	ENST00000393892.3	+	4	1340	c.1196G>T	c.(1195-1197)gGg>gTg	p.G399V	CNP_ENST00000393888.1_Missense_Mutation_p.G379V|CNP_ENST00000591072.1_Missense_Mutation_p.G164V|CNP_ENST00000472031.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	399					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGTACTACGGGAAAGGCAAA	0.587																																					p.G399V													.	.			0			c.G1196T												36	41	39					17																	40125872		2024	4183	6207	SO:0001583	missense	1267	exon4			ACTACGGGAAAGG		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.1196G>T	17.37:g.40125872G>T	ENSP00000377470:p.Gly399Val		32	0	0		37	0.08	3	NM_033133	99	0	0		Missense_Mutation	SNP	ENST00000393892.3	37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309735	0.60414	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.67698	-0.28;-0.28	5.19	5.19	0.71726	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.141138	0.47852	D	0.000213	T	0.79896	0.4525	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.81976	-0.0686	10	0.87932	D	0	-35.1459	16.5106	0.84283	0.0:0.0:1.0:0.0	.	276;399	B4DI06;P09543	.;CN37_HUMAN	V	399;275;379	ENSP00000377470:G399V;ENSP00000377466:G379V	ENSP00000309643:G275V	G	+	2	0	CNP	37379398	1.000000	0.71417	0.995000	0.50966	0.441000	0.31987	6.729000	0.74775	2.426000	0.82243	0.561000	0.74099	GGG			0.587	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257443.2				T	40125872	G	T	40125872	3	4	4	1	0	0	0	0	1	0	0	0	3628	1232	43	3	1210	3	CNP	17	40125872	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	24668785	40125872	41069338	48	227											
SLC4A1	6521	mdanderson.org	37	chr17	42330687	42330687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactaccagcagcaggtccaGgtggaagccggagcccttga	10	6	13	12	1	0	1	0	1	0	0	1	3	1	3	4	4	6	2	4	4	3	3			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:42330687G>T	ENST00000262418.6	-	17	2265	c.2110C>A	c.(2110-2112)Ctg>Atg	p.L704M		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	704	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCAGGTCCAGGTGGAAGCCG	0.632																																					p.L704M													.	.			0			c.C2110A												82	75	78					17																	42330687		2203	4300	6503	SO:0001583	missense	6521	exon17			GGTCCAGGTGGAA		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2110C>A	17.37:g.42330687G>T	ENSP00000262418:p.Leu704Met		63	0	0		55	0.05	3	NM_000342	1	0	0	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813236	0.50527	.	.	ENSG00000004939	ENST00000262418	D	0.83992	-1.79	4.61	2.53	0.30540	Bicarbonate transporter, C-terminal (1);	0.246916	0.35525	N	0.003152	D	0.88529	0.6461	M	0.84511	2.7	0.32684	N	0.515151	D	0.60575	0.988	D	0.65323	0.934	D	0.87617	0.2507	10	0.41790	T	0.15	.	6.3126	0.21173	0.1581:0.0:0.6769:0.165	.	704	P02730	B3AT_HUMAN	M	704	ENSP00000262418:L704M	ENSP00000262418:L704M	L	-	1	2	SLC4A1	39686213	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.545000	0.45769	1.040000	0.40099	-0.410000	0.06199	CTG			0.632	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346194.1		NM_000342		T	42330687	G	T	42330687	3	4	4	1	0	0	0	0	1	0	0	0	14673	991	35	3	641	3	SLC4A1	17	42330687	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	2204815	42330687	38864523	49	228											
RGS9	8787	mdanderson.org	37	chr17	63221584	63221584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcagctgccacgattGaaatccaagagagtagcaaa	15	5	11	10	1	0	2	0	1	0	1	1	4	1	2	3	1	4	4	3	1	4	2	rs544640448		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:63221584G>T	ENST00000262406.9	+	18	1939	c.1872G>T	c.(1870-1872)ttG>ttT	p.L624F	RGS9_ENST00000449996.3_Missense_Mutation_p.L621F|RGS9_ENST00000443584.3_Missense_Mutation_p.L621F	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	624					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCCACGATTGAAATCCAAGA	0.597																																					p.L624F													RGS9,NS,carcinoma,0,1	RGS9	0	1	0			c.G1872T												49	53	51					17																	63221584		2035	4192	6227	SO:0001583	missense	8787	exon18			ACGATTGAAATCC	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1872G>T	17.37:g.63221584G>T	ENSP00000262406:p.Leu624Phe		21	0	0		17	0.12	2	NM_003835	0		0	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195294	0.38806	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.32753	1.45;1.44	4.52	2.53	0.30540	.	0.912389	0.09408	N	0.806250	T	0.28499	0.0705	L	0.44542	1.39	0.09310	N	1	P;P;P	0.37276	0.454;0.454;0.589	B;B;B	0.37888	0.133;0.133;0.26	T	0.18398	-1.0338	10	0.52906	T	0.07	.	10.0944	0.42466	0.1698:0.0:0.8302:0.0	.	624;624;621	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	F	624;621	ENSP00000262406:L624F;ENSP00000396329:L621F	ENSP00000262406:L624F	L	+	3	2	RGS9	60652046	0.786000	0.28738	0.188000	0.23233	0.956000	0.61745	1.949000	0.40313	1.205000	0.43262	0.561000	0.74099	TTG			0.597	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000445885.1		NM_003835		T	63221584	G	T	63221584	3	4	4	1	0	0	0	0	1	0	0	0	13336	1281	45	3	1997	3	RGS9	17	63221584	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	20890897	63221584	17973626	50	229											
AFMID	125061	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr17	76198677	76198677	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttacttccccgacgagtcGtctgaaggttgtcggtgaag	8	12	12	9	4	1	2	0	2	1	0	4	4	2	2	2	2	1	1	2	2	3	4	rs189378031	byFrequency	TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:76198677G>T	ENST00000327898.5	+	3	261	c.252G>T	c.(250-252)tcG>tcT	p.S84S	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000409257.5_Silent_p.S84S					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCGACGAGTCGTCTGAAGGTT	0.647																																					p.S84S													AFMID,NS,carcinoma,+1,1	AFMID	1	1	0			c.G252T												33	35	34					17																	76198677		2203	4300	6503	SO:0001819	synonymous_variant	125061	exon3			CGAGTCGTCTGAA	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.252G>T	17.37:g.76198677G>T			83	0	0		67	0.12	8	NM_001145526	17	0.24	4		Silent	SNP	ENST00000327898.5	37	CCDS45801.1																																																																																					0.647	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333203.1		XM_058889		T	76198677	G	T	76198677	2	4	4	1	0	0	0	0	0	0	0	1	362	1132	40	1		1	AFMID	17	76198677	Silent	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10	12977093	76198677	4996533	51	230											
MUC16	94025	mdanderson.org	37	chr19	9025604	9025604	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcacctgagcaaggtcaAtctgcagccagagtacagag	12	8	10	11	0	3	3	2	1	2	2	4	3	3	3	2	1	4	3	2	1	3	2	rs200791776		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr19:9025604A>G	ENST00000397910.4	-	15	37053	c.36850T>C	c.(36850-36852)Ttg>Ctg	p.L12284L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12286	SEA 2. {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						AGCAAGGTCAATCTGCAGCCA	0.522																																					p.L12284L													.	.			0			c.T36850C												115	104	108					19																	9025604		1962	4161	6123	SO:0001819	synonymous_variant	94025	exon15			AGGTCAATCTGCA	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.36850T>C	19.37:g.9025604A>G			119	0.025210084	3		91	0.08	7	NM_024690	0		0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																					0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690		G	9025604	A	G	9025604	2	3	4	1	0	0	0	0	0	0	0	1	9989	98	4	4		4	MUC16	19	9025604	Silent	SNP	A	TCGA-2G-AAF4-01A-11D-A42Y-10		9025604	50103379	52	231											
EMILIN3	90187	mdanderson.org	37	chr20	39993681	39993681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgcacttacgtgactGtcccggggcacttgggcccc	6	8	14	13	2	0	1	0	1	0	0	1	2	1	2	3	4	2	2	3	4	1	2	rs539922564		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr20:39993681G>T	ENST00000332312.3	-	2	476	c.284C>A	c.(283-285)aCa>aAa	p.T95K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	95	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					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)				TTACGTGACTGTCCCGGGGCA	0.592																																					p.T95K													.	.			0			c.C284A												187	145	159					20																	39993681		2203	4300	6503	SO:0001583	missense	90187	exon2			GTGACTGTCCCGG	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.284C>A	20.37:g.39993681G>T	ENSP00000332806:p.Thr95Lys		70	0	0		49	0.06	3	NM_052846	0		0	Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706796	0.48412	.	.	ENSG00000183798	ENST00000332312	T	0.13538	2.58	4.55	4.55	0.56014	EMI domain (2);	0.261319	0.37955	N	0.001863	T	0.13670	0.0331	L	0.48362	1.52	0.32024	N	0.600406	P	0.42296	0.775	B	0.39660	0.306	T	0.07986	-1.0744	9	.	.	.	-3.459	12.4354	0.55596	0.0:0.0:0.7888:0.2112	.	95	Q9NT22	EMIL3_HUMAN	K	95	ENSP00000332806:T95K	.	T	-	2	0	EMILIN3	39427095	0.999000	0.42202	0.993000	0.49108	0.946000	0.59487	2.609000	0.46317	2.345000	0.79718	0.655000	0.94253	ACA			0.592	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106876.2		XM_029741		T	39993681	G	T	39993681	3	4	4	1	0	0	0	0	1	0	0	0	5102	1377	48	3	2028	3	EMILIN3	20	39993681	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10		39993681	23031839	53	232											
DEPDC5	9681	broad.mit.edu	37	chr22	32302245	32302245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagttctcagggcagcagcGgcggcggcggaactccacca	9	4	14	14	4	1	0	1	0	1	0	3	1	2	1	2	5	3	3	2	5	2	1	rs370366925		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr22:32302245G>A	ENST00000382112.3	+	42	4617	c.4547G>A	c.(4546-4548)cGg>cAg	p.R1516Q	DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G1505S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1503Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1505S|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342Q|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425Q	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1525					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.R1494Q(1)|p.R1425Q(1)		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						GGGCAGCAGCGGCGGCGGCGG	0.607																																					p.R1525Q													DEPDC5_ENST00000535622,NS,carcinoma,0,1	DEPDC5	266	1	2	Substitution - Missense(2)	endometrium(2)	c.G4574A							G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3897		0,1,1948	31	36	34		4547,4574,4274,4481	4	1	22		34	0,8270		0,0,4135	no	missense,missense,missense,missense	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	43,43,43,43	0,1,6083	AA,AG,GG		0.0,0.0257,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1516/1595,1525/1604,1425/1504,1494/1573	32302245	1,12167	1949	4135	6084	SO:0001583	missense	9681	exon43			AGCAGCGGCGGCG	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.4547G>A	22.37:g.32302245G>A	ENSP00000371546:p.Arg1516Gln		221	0	0		303	0.02	5	NM_001242896	52	0	0	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.511871|4.511871	0.85389|0.85389	2.57E-4|2.57E-4	0.0|0.0	ENSG00000100150|ENSG00000100150	ENST00000400246;ENST00000382111|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000382112;ENST00000400248;ENST00000539165	T;T|T;T;T;T;T	0.21191|0.32023	2.02;2.02|1.47;1.9;1.9;1.91;1.9	4.99|4.99	3.96|3.96	0.45880|0.45880	.|.	.|0.091579	.|0.44483	.|D	.|0.000449	T|T	0.45756|0.45756	0.1358|0.1358	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.998;0.999;0.997	.|D;D;D;D;D	.|0.75484	.|0.978;0.945;0.986;0.978;0.968	T|T	0.24119|0.24119	-1.0169|-1.0169	7|10	0.87932|0.25106	D|T	0|0.35	.|.	14.0559|14.0559	0.64769|0.64769	0.0:0.0:0.8478:0.1522|0.0:0.0:0.8478:0.1522	.|.	.|1525;1425;1503;1516;1494	.|B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;DEPD5_HUMAN	S|Q	1505|1425;1503;1494;1425;1516;1494;342	ENSP00000383105:G1505S;ENSP00000371545:G1505S|ENSP00000440210:R1425Q;ENSP00000266091:R1503Q;ENSP00000383108:R1494Q;ENSP00000371546:R1516Q;ENSP00000383107:R1494Q	ENSP00000371545:G1505S|ENSP00000266091:R1503Q	G|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30632245|30632245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.191000|9.191000	0.94940|0.94940	1.225000|1.225000	0.43566|0.43566	0.462000|0.462000	0.41574|0.41574	GGC|CGG			0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129087.1		NM_014662		A	32302245	G	A	32302245	3	1	4	1	0	0	0	0	1	0	0	0	4447	1116	39	1	4731	1	DEPDC5	22	32302245	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10		32302245	19002321	54	233											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	15	1	25	0	0	0	2	0	1	0	1	0	14	0	12	0	11	0	0	0	11	1	0			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					p.E184D	Melanoma(171;120 2705 19495 39241)												.	RBM10	117		0			c.G552T												20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241	exon4			GGAGGAGGATGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp		68	0.0147058824	1		59	0.05	3	NM_001204468	13	0	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG			0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676		T	47030582	G	T	47030582	3	4	4	1	0	0	0	0	1	0	0	0	13134	991	35	3	367	3	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-2G-AAF4-01A-11D-A42Y-10		47030582	108239978	55	234											
FGD1	2245	broad.mit.edu	37	chrX	54496515	54496515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctcttcctcctcctcCtcgtcgtcctcctcctccag	1	15	3	22	2	1	0	0	0	1	0	13	0	10	0	9	0	0	0	9	0	0	2			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chrX:54496515C>G	ENST00000375135.3	-	4	1768	c.1035G>C	c.(1033-1035)gaG>gaC	p.E345D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	345					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						cctcctcctcctcgtcgtcct	0.622																																					p.E345D													.	FGD1	99		0			c.G1035C												37	33	34					X																	54496515		2203	4300	6503	SO:0001583	missense	2245	exon4			CTCCTCCTCGTCG	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.1035G>C	X.37:g.54496515C>G	ENSP00000364277:p.Glu345Asp		133	0	0		141	0.03	4	NM_004463	187	0	0	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280250	0.23392	.	.	ENSG00000102302	ENST00000375135	T	0.66099	-0.19	5.62	-4.14	0.03892	.	0.000000	0.40640	N	0.001048	T	0.27169	0.0666	N	0.08118	0	0.30639	N	0.7567	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.12268	-1.0554	10	0.14656	T	0.56	-9.3258	2.6642	0.05035	0.1004:0.1753:0.3458:0.3785	.	103;345	B4DS99;P98174	.;FGD1_HUMAN	D	345	ENSP00000364277:E345D	ENSP00000364277:E345D	E	-	3	2	FGD1	54513240	0.961000	0.32948	0.753000	0.31225	0.949000	0.60115	-0.571000	0.05889	-0.536000	0.06298	-0.343000	0.07986	GAG			0.622	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056801.1		NM_004463		G	54496515	C	G	54496515	3	3	4	1	0	0	0	0	1	0	0	0	5845	680	24	5	1910	5	FGD1	23	54496515	Missense_Mutation	SNP	C	TCGA-2G-AAF4-01A-11D-A42Y-10	7465933	54496515	100774045	56	235											
CSF3R	1441	mdanderson.org	37	chr1	36939198	36939198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccaggatggagtcccCttgggtctgacagttgcccc	6	9	13	13	0	1	1	0	1	1	0	3	3	3	3	5	3	1	2	5	3	0	2			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr1:36939198C>A	ENST00000373106.1	-	6	1058	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W	CSF3R_ENST00000331941.5_Missense_Mutation_p.G171W|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000338937.5_Missense_Mutation_p.G171W|CSF3R_ENST00000373104.1_Missense_Mutation_p.G171W|CSF3R_ENST00000361632.4_Missense_Mutation_p.G171W|CSF3R_ENST00000373103.1_Missense_Mutation_p.G171W|CSF3R_ENST00000418048.2_Missense_Mutation_p.G171W|CSF3R_ENST00000440588.2_Missense_Mutation_p.G171W	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	171	Fibronectin type-III 1. {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)	ATGGAGTCCCCTTGGGTCTGA	0.612																																					p.G171W													.	.			0			c.G511T												54	52	53					1																	36939198		2203	4300	6503	SO:0001583	missense	1441	exon6			AGTCCCCTTGGGT	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.511G>T	1.37:g.36939198C>A	ENSP00000362198:p.Gly171Trp		46	0	0		39	0.08	3	NM_156039	20	0	0		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821148	0.32237	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.22	2.32	0.28847	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.640960	0.02942	N	0.140548	T	0.47893	0.1470	L	0.48642	1.525	0.09310	N	1	D;D;D;D	0.71674	0.998;0.997;0.989;0.994	P;P;B;P	0.56042	0.79;0.691;0.398;0.691	T	0.22730	-1.0208	10	0.37606	T	0.19	-3.1664	8.6309	0.33919	0.0:0.7591:0.0:0.2409	.	171;171;171;171	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	W	171	ENSP00000362198:G171W;ENSP00000362196:G171W;ENSP00000362195:G171W;ENSP00000355406:G171W;ENSP00000332180:G171W;ENSP00000401588:G171W;ENSP00000345013:G171W;ENSP00000397568:G171W	ENSP00000332180:G171W	G	-	1	0	CSF3R	36711785	0.000000	0.05858	0.025000	0.17156	0.133000	0.20885	0.156000	0.16382	0.303000	0.22785	-0.208000	0.12717	GGG			0.612	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021997.2		NM_156039		A	36939198	C	A	36939198	3	1	5	1	0	0	0	0	1	0	0	0	3939	681	24	3	2237	3	CSF3R	1	36939198	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10		36939198	212311423	1	236											
COPA	1314	hgsc.bcm.edu;bcgsc.ca	37	chr1	160264296	160264298	+	In_Frame_Del	DEL	TCT	TCT	-																															gctcaggagggagctccagaTcttcttctacatcccagcca																								rs200807488		TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	TCT	TCT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr1:160264296_160264298delTCT	ENST00000241704.7	-	25	2881_2883	c.2652_2654delAGA	c.(2650-2655)gaagat>gat	p.E884del	COPA_ENST00000368069.3_In_Frame_Del_p.E893del	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	884					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGCTCCAGATCTTCTTCTACAT	0.512																																					p.894_894del													.	COPA	181		0			c.2680_2682del																																									SO:0001651	inframe_deletion	1314	exon25			TCCAGATCTTCTT	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2652_2654delAGA	1.37:g.160264302_160264304delTCT	ENSP00000241704:p.Glu884del		189	0	0		231	0.2	46	NM_001098398	629	0	0	Q5T201|Q8IXZ9	In_Frame_Del	DEL	ENST00000241704.7	37	CCDS1202.1																																																																																					0.512	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080638.1		NM_004371		-	160264298	TCT	-	160264296	7	5	5	1	0	1	0	1	0	0	0	0	3729	1435	50	0	1056	0	COPA	1	160264296	In_Frame_Del	DEL	TCT	TCGA-2G-AAF6-01A-11D-A42Y-10	123325098	160264296	88986325	2	237											
FMO1	2326	mdanderson.org	37	chr1	171251463	171251463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcggtgggctgttcgaGtcctgaaaggtaagtataag	11	10	14	6	2	0	1	0	1	0	0	3	2	1	1	1	3	1	5	1	3	5	4			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr1:171251463G>T	ENST00000354841.4	+	6	1305	c.1174G>T	c.(1174-1176)Gtc>Ttc	p.V392F	FMO1_ENST00000402921.2_Missense_Mutation_p.V329F|FMO1_ENST00000367750.3_Missense_Mutation_p.V392F|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	392					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)	GGCTGTTCGAGTCCTGAAAGG	0.463																																					p.V392F													.	.			0			c.G1174T												51	53	52					1																	171251463		2203	4300	6503	SO:0001583	missense	2326	exon7			GTTCGAGTCCTGA	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.1174G>T	1.37:g.171251463G>T	ENSP00000346901:p.Val392Phe		103	0	0		127	0.04	5	NM_002021	2	0	0	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031265	0.75504	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.62498	0.02;0.02;0.02	5.77	5.77	0.91146	.	0.135374	0.48767	D	0.000164	T	0.75620	0.3874	M	0.82433	2.59	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.79191	-0.1905	10	0.87932	D	0	-6.8731	12.1394	0.53989	0.079:0.0:0.921:0.0	.	329;392;392	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	F	392;329;392	ENSP00000356724:V392F;ENSP00000385543:V329F;ENSP00000346901:V392F	ENSP00000346901:V392F	V	+	1	0	FMO1	169518087	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	6.830000	0.75319	2.720000	0.93068	0.557000	0.71058	GTC			0.463	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086212.1		NM_002021		T	171251463	G	T	171251463	3	4	5	1	0	0	0	0	1	0	0	0	5967	1029	36	3	1196	3	FMO1	1	171251463	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	10987167	171251463	77999158	3	238											
ASXL2	55252	mdanderson.org	37	chr2	25965421	25965421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcctgaattaaatctctgGctagggtcttttcatcaaat	10	15	7	9	0	4	1	2	1	2	0	5	1	4	1	1	2	1	1	1	2	5	4			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr2:25965421G>T	ENST00000435504.4	-	13	4078	c.3785C>A	c.(3784-3786)gCc>gAc	p.A1262D	ASXL2_ENST00000336112.4_Missense_Mutation_p.A1234D|ASXL2_ENST00000404843.1_Missense_Mutation_p.A745D|ASXL2_ENST00000272341.4_Missense_Mutation_p.A745D			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1262					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATCTCTGGCTAGGGTCTT	0.443																																					p.A1262D													.	.			0			c.C3785A												53	52	52					2																	25965421		1940	4144	6084	SO:0001583	missense	55252	exon12			TCTCTGGCTAGGG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3785C>A	2.37:g.25965421G>T	ENSP00000391447:p.Ala1262Asp		75	0	0		86	0.05	4	NM_018263	64	0	0	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	G	18.12	3.553359	0.65425	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.29397	1.65;1.65;1.57;1.57	6.02	6.02	0.97574	.	0.065958	0.64402	D	0.000007	T	0.54191	0.1843	M	0.64997	1.995	0.27783	N	0.943078	D;D	0.76494	0.999;0.964	D;P	0.71414	0.973;0.621	T	0.46555	-0.9183	10	0.41790	T	0.15	-11.6502	19.1045	0.93287	0.0:0.0:1.0:0.0	.	745;1262	Q76L83-2;Q76L83	.;ASXL2_HUMAN	D	1262;1234;745;745	ENSP00000391447:A1262D;ENSP00000337250:A1234D;ENSP00000383920:A745D;ENSP00000272341:A745D	ENSP00000272341:A745D	A	-	2	0	ASXL2	25818925	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.716000	0.74702	2.865000	0.98341	0.655000	0.94253	GCC			0.443	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000325593.3		NM_018263		T	25965421	G	T	25965421	3	4	5	1	0	0	0	0	1	0	0	0	1067	1203	42	2	526	2	ASXL2	2	25965421	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10		25965421	217233952	4	239											
SFTPB	6439	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr2	85890852	85890852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccagctggggcagcatgCggcccagcagcgtgtcgagc	8	4	16	13	3	0	1	0	0	0	1	1	2	0	1	2	3	6	4	2	3	0	0	rs371267944		TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr2:85890852C>T	ENST00000519937.2	-	7	810	c.791G>A	c.(790-792)cGc>cAc	p.R264H	SFTPB_ENST00000393822.3_Missense_Mutation_p.R276H|SFTPB_ENST00000342375.3_Missense_Mutation_p.R264H|SFTPB_ENST00000409383.1_Missense_Mutation_p.R276H			P07988	PSPB_HUMAN	surfactant protein B	264	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GGGCAGCATGCGGCCCAGCAG	0.682																																					p.R276H													.	.			0			c.G827A							C	HIS/ARG,HIS/ARG	0,4398		0,0,2199	25	26	26		827,827	0.3	0.1	2		26	1,8593		0,1,4296	no	missense,missense	SFTPB	NM_000542.3,NM_198843.2	29,29	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	276/394,276/394	85890852	1,12991	2199	4297	6496	SO:0001583	missense	6439	exon8			AGCATGCGGCCCA	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.791G>A	2.37:g.85890852C>T	ENSP00000428719:p.Arg264His		61	0	0		96	0.05	5	NM_198843	1	0	0	Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37		.	.	.	.	.	.	.	.	.	.	C	8.609	0.888762	0.17540	0.0	1.16E-4	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.34	0.34	0.15985	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.000000	0.53938	D	0.000045	T	0.72614	0.3482	L	0.32530	0.975	0.21604	N	0.999625	B;B	0.20988	0.05;0.047	B;B	0.19148	0.01;0.024	T	0.55101	-0.8193	10	0.18710	T	0.47	-16.5632	8.5805	0.33626	0.0:0.5865:0.0:0.4135	.	276;264	D6W5L6;P07988	.;PSPB_HUMAN	H	266;276;264;276;232	ENSP00000428719:R266H;ENSP00000377409:R276H;ENSP00000345161:R264H;ENSP00000386346:R276H	ENSP00000345161:R264H	R	-	2	0	SFTPB	85744363	0.030000	0.19436	0.119000	0.21687	0.406000	0.30931	0.017000	0.13399	0.005000	0.14708	-0.215000	0.12644	CGC			0.682	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000252499.3		NM_198843		T	85890852	C	T	85890852	3	4	5	1	0	0	0	0	1	0	0	0	14214	768	27	1	370	1	SFTPB	2	85890852	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	59925431	85890852	157308521	5	240											
FER1L5	90342	mdanderson.org	37	chr2	97361797	97361797	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccgcacagcgctgtctGagaagaagcaccaagacgta	12	5	10	14	3	1	3	0	1	1	3	2	4	2	3	3	0	2	4	3	0	4	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr2:97361797G>T	ENST00000457909.1	+	0	3569							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						AGCGCTGTCTGAGAAGAAGCA	0.607																																					p.E1383X													FER1L5,right_upper_lobe,carcinoma,-2,1	FER1L5	-2	1	0			c.G4147T												63	67	66					2																	97361797		2018	4179	6197			90342	exon36			CTGTCTGAGAAGA	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97361797G>T			34	0	0		47	0.06	3	NM_001113382	0		0	Q17RH2|Q6ZU24	Nonsense_Mutation	SNP	ENST00000457909.1	37		.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514282	0.04200	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	3.55	-3.95	0.04118	.	1935.970000	0.00166	U	0.000001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	4.8075	0.13328	0.4649:0.3071:0.228:0.0	.	.	.	.	X	1383;1397;101	.	ENSP00000442027:E101X	E	+	1	0	FER1L5	96725524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.167000	0.03126	-0.911000	0.03843	-0.300000	0.09419	GAG			0.607	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene		OTTHUMT00000339030.1		NM_001077400		T	97361797	G	T	97361797	1	4	5	0	1	0	0	0	0	0	0	0	5827	1291	45	3		3	FER1L5	2	97361797	RNA	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	11470945	97361797	145837576	6	241											
IMP4	92856	mdanderson.org	37	chr2	131103261	131103261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcgttcacgagcatcGgggcacacctggtaaggccg	7	7	15	12	4	1	0	1	0	0	0	3	1	1	0	2	5	1	5	2	5	1	2			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr2:131103261G>T	ENST00000259239.3	+	5	1136	c.428G>T	c.(427-429)cGg>cTg	p.R143L	IMP4_ENST00000409935.1_Missense_Mutation_p.R143L	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	143	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CACGAGCATCGGGGCACACCT	0.662																																					p.R143L													.	.			0			c.G428T												53	57	56					2																	131103261		2203	4300	6503	SO:0001583	missense	92856	exon5			AGCATCGGGGCAC	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.428G>T	2.37:g.131103261G>T	ENSP00000259239:p.Arg143Leu		46	0	0		59	0.05	3	NM_033416	716	0	0	Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.546168|4.546168	0.86022|0.86022	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000452955|ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740	.|T;T;T;T	.|0.52754	.|0.65;0.65;0.65;0.65	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Brix domain (3);Anticodon-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66287|0.66287	0.2774|0.2774	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	.|P	.|0.46912	.|0.886	.|P	.|0.54460	.|0.753	T|T	0.71984|0.71984	-0.4427|-0.4427	5|10	.|0.72032	.|D	.|0.01	-4.8637|-4.8637	16.312|16.312	0.82874|0.82874	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|143	.|Q96G21	.|IMP4_HUMAN	W|L	132|143;143;58;88	.|ENSP00000259239:R143L;ENSP00000386411:R143L;ENSP00000386716:R58L;ENSP00000389701:R88L	.|ENSP00000259239:R143L	G|R	+|+	1|2	0|0	IMP4|IMP4	130819731|130819731	0.991000|0.991000	0.36638|0.36638	0.999000|0.999000	0.59377|0.59377	0.430000|0.430000	0.31655|0.31655	3.287000|3.287000	0.51732|0.51732	2.517000|2.517000	0.84864|0.84864	0.655000|0.655000	0.94253|0.94253	GGG|CGG			0.662	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254520.2		NM_033416		T	131103261	G	T	131103261	3	4	5	1	0	0	0	0	1	0	0	0	7735	1116	39	1	446	1	IMP4	2	131103261	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	33741464	131103261	112096112	7	242											
CCDC150	284992	broad.mit.edu	37	chr2	197511227	197511227	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttggattttggtgaaaaaAggtaacaaaaatgaactaca	18	11	9	3	0	0	2	0	2	0	0	0	3	0	3	0	3	3	2	0	3	8	5			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr2:197511227A>G	ENST00000389175.4	+	2	310	c.175A>G	c.(175-177)Aga>Gga	p.R59G	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	59										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGTGAAAAAAGGTAACAAAA	0.363																																					p.R59G													.	CCDC150	96		0			c.A175G												79	74	75					2																	197511227		1868	4107	5975	SO:0001630	splice_region_variant	284992	exon2			GAAAAAAGGTAAC		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.176+1A>G	2.37:g.197511227A>G			125	0	0		138	0.02	3	NM_001080539	1	0	0	Q6P5U6|Q6P663|Q8N8V5	Splice_Site	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474910	0.26511	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.31769	1.48	4.32	3.13	0.36017	.	0.155742	0.42053	D	0.000769	T	0.31451	0.0797	M	0.65975	2.015	0.80722	D	1	B;P	0.46142	0.027;0.873	B;B	0.42361	0.015;0.385	T	0.09357	-1.0678	10	0.66056	D	0.02	.	7.7057	0.28648	0.7731:0.2269:0.0:0.0	.	59;59	Q8NCX0;F5H6M2	CC150_HUMAN;.	G	59	ENSP00000373827:R59G	ENSP00000373827:R59G	R	+	1	2	CCDC150	197219472	0.999000	0.42202	0.964000	0.40570	0.508000	0.34012	1.847000	0.39299	0.787000	0.33731	0.533000	0.62120	AGA			0.363	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335377.2		NM_001080539	Missense_Mutation	G	197511227	A	G	197511227	5	3	5	1	0	0	0	0	0	0	1	0	2787	86	3	4	181	4	CCDC150	2	197511227	Splice_Site	SNP	A	TCGA-2G-AAF6-01A-11D-A42Y-10	66407966	197511227	45688146	8	243											
CADM2	253559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	86010725	86010725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcctgaacaaaacggatAatggtacatatcgatgtgaa	15	12	8	6	2	0	2	0	2	0	0	2	4	1	3	1	2	3	1	1	2	7	5			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr3:86010725A>G	ENST00000407528.2	+	7	933	c.871A>G	c.(871-873)Aat>Gat	p.N291D	CADM2_ENST00000405615.2_Missense_Mutation_p.N293D|CADM2_ENST00000383699.3_Missense_Mutation_p.N300D	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	291	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAAAACGGATAATGGTACATA	0.418																																					p.N300D													CADM2_ENST00000383699,NS,lymphoid_neoplasm,-2,2	CADM2_ENST00000383699	-2	2	0			c.A898G												150	137	142					3																	86010725		2203	4300	6503	SO:0001583	missense	253559	exon8			ACGGATAATGGTA	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.871A>G	3.37:g.86010725A>G	ENSP00000384575:p.Asn291Asp		109	0	0		119	0.15	18	NM_001167675	1	0	0	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568614	0.86439	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.66460	-0.21;-0.21;-0.21	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	L	0.28504	0.86	0.80722	D	1	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.83275	0.954;0.994;0.996	T	0.75082	-0.3443	10	0.51188	T	0.08	.	15.2809	0.73784	1.0:0.0:0.0:0.0	.	293;300;291	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	D	300;291;293	ENSP00000373200:N300D;ENSP00000384575:N291D;ENSP00000384193:N293D	ENSP00000373200:N300D	N	+	1	0	CADM2	86093415	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.880000	0.92407	2.061000	0.61500	0.528000	0.53228	AAT			0.418	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352822.1		NM_153184		G	86010725	A	G	86010725	3	3	5	1	0	0	0	0	1	0	0	0	2569	362	13	4	968	4	CADM2	3	86010725	Missense_Mutation	SNP	A	TCGA-2G-AAF6-01A-11D-A42Y-10		86010725	112011705	9	244											
DHFRL1	200895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	93780000	93780000	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttccttataaacagaaCtgccaccaactatccaaatc	14	10	4	13	0	0	1	0	0	0	1	3	1	2	1	4	1	4	1	4	1	7	4			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr3:93780000C>G	ENST00000394221.2	-	2	805	c.356G>C	c.(355-357)aGt>aCt	p.S119T	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.S119T|NSUN3_ENST00000314622.4_5'Flank	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	119	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						ATAAACAGAACTGCCACCAAC	0.378																																					p.S119T													.	.			0			c.G356C												128	133	131					3																	93780000		2203	4300	6503	SO:0001583	missense	200895	exon2			ACAGAACTGCCAC	AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"dihydrofolate reductase pseudogene 4"	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.356G>C	3.37:g.93780000C>G	ENSP00000377768:p.Ser119Thr		184	0	0		177	0.15	27	NM_001195643	10	0.3	3	D3DN30|Q6P4I9	Missense_Mutation	SNP	ENST00000394221.2	37	CCDS2926.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937940	0.34189	.	.	ENSG00000178700	ENST00000314636;ENST00000394221	T;T	0.72282	-0.64;-0.64	1.25	1.25	0.21368	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.046120	0.85682	U	0.000000	T	0.66548	0.2800	M	0.66439	2.03	0.58432	D	0.999997	P	0.38250	0.624	B	0.41236	0.351	T	0.65508	-0.6151	10	0.44086	T	0.13	-14.7781	8.4404	0.32812	0.0:1.0:0.0:0.0	.	119	Q86XF0	DYRL1_HUMAN	T	119	ENSP00000319170:S119T;ENSP00000377768:S119T	ENSP00000319170:S119T	S	-	2	0	DHFRL1	95262690	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	2.423000	0.44705	1.020000	0.39573	0.449000	0.29647	AGT			0.378	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352910.1		NM_176815		G	93780000	C	G	93780000	3	3	5	1	0	0	0	0	1	0	0	0	4487	565	20	5	211	5	DHFRL1	3	93780000	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	7769275	93780000	104242430	10	245											
ALDH1L1	10840	mdanderson.org	37	chr3	125872417	125872417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgttgagttgaaaaatGtcagtttctgtcaaggggag	11	12	13	5	1	4	2	3	2	1	0	4	3	4	3	0	2	1	3	0	2	3	3			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr3:125872417G>T	ENST00000393434.2	-	7	1077	c.728C>A	c.(727-729)aCa>aAa	p.T243K	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.T243K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.T253K|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.T243K|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.T68K|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.T142K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	243					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)	GTTGAAAAATGTCAGTTTCTG	0.582																																					p.T253K													.	.			0			c.C758A												79	81	80					3																	125872417		2203	4300	6503	SO:0001583	missense	10840	exon7			AAAAATGTCAGTT	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.728C>A	3.37:g.125872417G>T	ENSP00000377083:p.Thr243Lys		63	0.0158730159	1		91	0.05	5	NM_001270364	0		0	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301163	0.23650	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	4.78	3.9	0.45041	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.33339	1.005	0.48901	D	0.999722	D;D;B;D;B	0.89917	1.0;0.999;0.299;1.0;0.299	D;D;B;D;B	0.87578	0.989;0.992;0.219;0.998;0.219	T	0.14980	-1.0453	10	0.44086	T	0.13	.	10.7546	0.46230	0.0951:0.0:0.9049:0.0	.	68;142;295;148;243	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	K	253;243;142;243;243;68	ENSP00000273450:T253K;ENSP00000420293:T243K;ENSP00000395881:T142K;ENSP00000377083:T243K;ENSP00000377081:T243K;ENSP00000414126:T68K	ENSP00000273450:T253K	T	-	2	0	ALDH1L1	127355107	1.000000	0.71417	0.846000	0.33378	0.015000	0.08874	7.855000	0.86950	1.001000	0.39076	-0.373000	0.07131	ACA			0.582	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354391.1		NM_012190		T	125872417	G	T	125872417	3	4	5	1	0	0	0	0	1	0	0	0	494	1377	48	3	2048	3	ALDH1L1	3	125872417	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	32092417	125872417	72150013	11	246											
EIF4G1	1981	mdanderson.org	37	chr3	184042695	184042695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggacgcctgaaggaagaGctggaagaggctcgggacat	12	4	17	8	3	0	3	0	1	0	2	1	8	0	7	1	5	1	2	1	5	3	0			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr3:184042695G>T	ENST00000346169.2	+	18	2920	c.2649G>T	c.(2647-2649)gaG>gaT	p.E883D	EIF4G1_ENST00000434061.2_Missense_Mutation_p.E688D|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E796D|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E687D|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E844D|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E883D|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E884D|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E890D|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E797D|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E719D|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E890D|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E890D|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E843D|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E720D	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	883	eIF3/EIF4A-binding.				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)			TGAAGGAAGAGCTGGAAGAGG	0.493																																					p.E890D													.	.			0			c.G2670T												65	77	73					3																	184042695		2203	4300	6503	SO:0001583	missense	1981	exon18			GGAAGAGCTGGAA	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.2649G>T	3.37:g.184042695G>T	ENSP00000316879:p.Glu883Asp		39	0	0		49	0.06	3	NM_001194947	666	0	0	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433568	0.83776	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;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	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.65	4.77	0.60923	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.59912	1.85	0.58432	D	0.999994	D;P;P;P	0.89917	1.0;0.917;0.917;0.938	D;P;D;D	0.91635	0.999;0.863;0.914;0.91	T	0.27400	-1.0075	10	0.40728	T	0.16	-20.1969	11.0756	0.48030	0.1431:0.0:0.8569:0.0	.	890;884;883;890	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	D	883;843;796;890;824;719;890;797;884;883;890;844;719;720;688;687	ENSP00000316879:E883D;ENSP00000391935:E843D;ENSP00000376320:E796D;ENSP00000371767:E890D;ENSP00000403269:E824D;ENSP00000317600:E719D;ENSP00000338020:E890D;ENSP00000407682:E797D;ENSP00000343450:E884D;ENSP00000323737:E883D;ENSP00000416255:E890D;ENSP00000395974:E844D;ENSP00000398145:E719D;ENSP00000399858:E720D;ENSP00000411826:E688D;ENSP00000404754:E687D	ENSP00000323737:E883D	E	+	3	2	EIF4G1	185525389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.036000	0.57304	1.373000	0.46208	0.561000	0.74099	GAG			0.493	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000345733.1		NM_182917		T	184042695	G	T	184042695	3	4	5	1	0	0	0	0	1	0	0	0	5043	962	34	2	2711	2	EIF4G1	3	184042695	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	58170278	184042695	13979735	12	247											
HEATR7B2	133558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	41009457	41009457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attaaggcttgcaagagtttCccactggaggctggcttttc	8	13	11	9	0	0	1	0	0	0	1	2	2	1	2	1	4	1	5	1	4	2	5	rs549275471	byFrequency	TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr5:41009457C>T	ENST00000399564.4	-	32	3795	c.3345G>A	c.(3343-3345)ggG>ggA	p.G1115G	MROH2B_ENST00000506092.2_Silent_p.G670G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1115																	GCAAGAGTTTCCCACTGGAGG	0.512													C|||	4	0.000798722	0	0	5008	,	,		17682	0		0	False		,,,				2504	0.0041				p.G1115G													HEATR7B2,NS,carcinoma,-1,3	HEATR7B2	-1	3	0			c.G3345A												125	125	125					5																	41009457		1881	4113	5994	SO:0001819	synonymous_variant	133558	exon32			GAGTTTCCCACTG		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.3345G>A	5.37:g.41009457C>T			85	0	0		69	0.12	8	NM_173489	0		0	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																					0.512	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367558.2		NM_173489		T	41009457	C	T	41009457	2	4	5	1	0	0	0	0	0	0	0	1	7050	842	30	3		3	HEATR7B2	5	41009457	Silent	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10		41009457	139905803	13	248											
CCNI2	645121	mdanderson.org	37	chr5	132084162	132084162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgcctcctgatttcaGtgaaggtagggaggcctctg	6	11	14	10	1	2	2	1	2	1	0	3	3	3	3	4	4	0	1	4	4	2	3			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr5:132084162G>T	ENST00000378731.1	+	2	604	c.553G>T	c.(553-555)Gtg>Ttg	p.V185L	SEPT8_ENST00000481030.1_5'Flank	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	185					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTGATTTCAGTGAAGGTAGG	0.542																																					p.V185L													CCNI2,NS,carcinoma,-2,1	CCNI2	-2	1	0			c.G553T												77	74	75					5																	132084162		2203	4300	6503	SO:0001583	missense	645121	exon2			ATTTCAGTGAAGG	BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.553G>T	5.37:g.132084162G>T	ENSP00000368005:p.Val185Leu		69	0	0		54	0.07	4	NM_001039780	33	0	0	B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	ENST00000378731.1	37	CCDS34236.1	.	.	.	.	.	.	.	.	.	.	g	13.05	2.122733	0.37436	.	.	ENSG00000205089	ENST00000378731	T	0.11495	2.77	4.74	0.76	0.18442	Cyclin, N-terminal (1);Cyclin-like (3);	0.717261	0.13229	N	0.403816	T	0.10165	0.0249	L	0.35644	1.08	0.09310	N	1	B;B;B	0.25563	0.014;0.016;0.129	B;B;B	0.34180	0.048;0.026;0.177	T	0.35076	-0.9803	10	0.51188	T	0.08	.	7.15	0.25606	0.1526:0.2821:0.5653:0.0	.	186;185;185	B7ZMB7;B7ZMB8;Q6ZMN8	.;.;CCNI2_HUMAN	L	185	ENSP00000368005:V185L	ENSP00000368005:V185L	V	+	1	0	CCNI2	132112061	0.001000	0.12720	0.000000	0.03702	0.044000	0.14063	0.872000	0.28037	-0.006000	0.14370	0.651000	0.88453	GTG			0.542	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000132833.1		NM_001039780		T	132084162	G	T	132084162	3	4	5	1	0	0	0	0	1	0	0	0	2929	1029	36	3	559	3	CCNI2	5	132084162	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	91074705	132084162	48831098	14	249											
ZBTB9	221504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33424120	33424120	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggccttttggctgtggcAtctgcaacaagcgcttcaag	7	12	11	11	2	2	0	1	0	1	0	3	0	2	0	1	3	3	4	1	3	3	4			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr6:33424120A>G	ENST00000395064.2	+	2	1511	c.1243A>G	c.(1243-1245)Atc>Gtc	p.I415V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	415					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						TGGCTGTGGCATCTGCAACAA	0.572																																					p.I415V													.	.			0			c.A1243G												79	65	70					6																	33424120		2203	4300	6503	SO:0001583	missense	221504	exon2			TGTGGCATCTGCA	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.1243A>G	6.37:g.33424120A>G	ENSP00000378503:p.Ile415Val		72	0	0		102	0.23	23	NM_152735	170	0.3	51	A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	A	1.213	-0.629016	0.03610	.	.	ENSG00000213588	ENST00000395064	T	0.14640	2.49	5.1	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.398008	0.19337	U	0.116742	T	0.01661	0.0053	N	0.13003	0.285	0.29467	N	0.857319	B	0.02656	0.0	B	0.04013	0.001	T	0.48234	-0.9053	10	0.10377	T	0.69	.	6.6474	0.22943	0.5414:0.0:0.4586:0.0	.	415	Q96C00	ZBTB9_HUMAN	V	415	ENSP00000378503:I415V	ENSP00000378503:I415V	I	+	1	0	ZBTB9	33532098	0.797000	0.28877	1.000000	0.80357	0.997000	0.91878	1.087000	0.30865	0.365000	0.24400	0.533000	0.62120	ATC			0.572	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276533.1		NM_152735		G	33424120	A	G	33424120	3	3	5	1	0	0	0	0	1	0	0	0	17581	217	8	4	1245	4	ZBTB9	6	33424120	Missense_Mutation	SNP	A	TCGA-2G-AAF6-01A-11D-A42Y-10		33424120	137690947	15	250											
TNFRSF21	27242	mdanderson.org	37	chr6	47277201	47277201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggctcggcgggcgatgCggctgcaggaggcgagggcg	4	5	22	10	6	0	0	0	0	0	0	1	3	0	1	0	7	2	3	0	7	0	0			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr6:47277201C>T	ENST00000296861.2	-	1	440	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	16					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GCGGGCGATGCGGCTGCAGGA	0.741																																					p.R16H													.	.			0			c.G47A																																									SO:0001583	missense	27242	exon1			GCGATGCGGCTGC	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.47G>A	6.37:g.47277201C>T	ENSP00000296861:p.Arg16His		12	0	0		18	0.17	3	NM_014452	71	0.01	1	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464545	0.63513	.	.	ENSG00000146072	ENST00000296861	T	0.64803	-0.12	4.24	4.24	0.50183	.	0.347355	0.21379	N	0.075509	T	0.30262	0.0759	L	0.36672	1.1	0.30463	N	0.774055	P	0.42973	0.796	B	0.29176	0.099	T	0.37384	-0.9708	10	0.66056	D	0.02	.	12.0024	0.53240	0.0:1.0:0.0:0.0	.	16	O75509	TNR21_HUMAN	H	16	ENSP00000296861:R16H	ENSP00000296861:R16H	R	-	2	0	TNFRSF21	47385160	1.000000	0.71417	0.977000	0.42913	0.669000	0.39330	2.241000	0.43097	2.174000	0.68829	0.561000	0.74099	CGC			0.741	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040814.1		NM_014452		T	47277201	C	T	47277201	3	4	5	1	0	0	0	0	1	0	0	0	16318	768	27	1	1944	1	TNFRSF21	6	47277201	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	13853081	47277201	123837866	16	251											
C6orf70	55780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	170159980	170159980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcaggattgggtcagttaCtgaagagttaccttcaaaac	12	10	11	8	1	2	2	2	1	0	1	2	3	2	3	1	3	3	3	1	3	5	4			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr6:170159980C>A	ENST00000366773.3	+	7	685	c.652C>A	c.(652-654)Ctg>Atg	p.L218M	ERMARD_ENST00000418781.3_Missense_Mutation_p.L218M|ERMARD_ENST00000392095.4_Missense_Mutation_p.L92M|ERMARD_ENST00000366772.2_Missense_Mutation_p.L218M|ERMARD_ENST00000588451.1_Missense_Mutation_p.L92M	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	218					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GGGTCAGTTACTGAAGAGTTA	0.363																																					p.L218M													.	.			0			c.C652A												218	199	205					6																	170159980		2203	4300	6503	SO:0001583	missense	55780	exon7			CAGTTACTGAAGA	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.652C>A	6.37:g.170159980C>A	ENSP00000355735:p.Leu218Met		67	0	0		80	0.21	17	NM_018341	61	0.26	16	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862410	0.51482	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.55413	0.52;0.52	4.93	3.81	0.43845	.	0.000000	0.41500	D	0.000869	T	0.58366	0.2117	M	0.80028	2.48	0.23533	N	0.997474	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.53187	-0.8474	10	0.72032	D	0.01	.	5.0835	0.14668	0.0:0.7738:0.0:0.2262	.	218;218;218	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	M	218;218;218;92	ENSP00000355735:L218M;ENSP00000375945:L92M	ENSP00000355734:L218M	L	+	1	2	C6orf70	169901905	0.132000	0.22450	0.140000	0.22221	0.718000	0.41266	0.617000	0.24359	2.444000	0.82710	0.563000	0.77884	CTG			0.363	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043238.2		NM_018341		A	170159980	C	A	170159980	3	1	5	1	0	0	0	0	1	0	0	0	2372	564	20	3	678	3	C6orf70	6	170159980	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	122882779	170159980	955087	17	252											
RNF216	54476	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	5781139	5781139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctctgatctggggttgAcaatgtcatttgctgcttgg	5	16	12	8	0	4	2	1	2	3	0	4	2	4	2	0	3	3	4	0	3	1	3			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr7:5781139A>T	ENST00000425013.2	-	4	562	c.338T>A	c.(337-339)gTc>gAc	p.V113D	RNF216_ENST00000389902.3_Missense_Mutation_p.V170D	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	113					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)		TCTGGGGTTGACAATGTCATT	0.473																																					p.V170D													.	RNF216	71		0			c.T509A												277	258	264					7																	5781139		2203	4300	6503	SO:0001583	missense	54476	exon4			GGGTTGACAATGT	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.338T>A	7.37:g.5781139A>T	ENSP00000404602:p.Val113Asp		185	0.0108108108	2		261	0.19	50	NM_207111	329	0.23	76	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199159	0.58126	.	.	ENSG00000011275	ENST00000425013;ENST00000389902	T;T	0.56275	0.47;0.58	6.11	4.93	0.64822	.	0.464398	0.20993	N	0.081992	T	0.45518	0.1346	L	0.48642	1.525	0.50632	D	0.999888	B;P	0.37038	0.256;0.579	B;B	0.38755	0.133;0.281	T	0.46665	-0.9175	10	0.87932	D	0	-1.6742	6.6088	0.22739	0.6257:0.2991:0.0752:0.0	.	113;170	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	D	113;170	ENSP00000404602:V113D;ENSP00000374552:V170D	ENSP00000374550:V113D	V	-	2	0	RNF216	5747665	0.311000	0.24536	0.820000	0.32676	0.993000	0.82548	1.679000	0.37597	1.095000	0.41419	0.533000	0.62120	GTC			0.473	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000340374.1		NM_207111		T	5781139	A	T	5781139	3	4	5	1	0	0	0	0	1	0	0	0	13503	275	10	5	2318	5	RNF216	7	5781139	Missense_Mutation	SNP	A	TCGA-2G-AAF6-01A-11D-A42Y-10		5781139	153357524	18	253											
C7orf26	79034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	6634134	6634134	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactactgctgtttggtgccGggatccattcagacgctgaa	8	11	12	10	2	1	2	1	1	0	1	2	4	2	3	2	2	3	3	2	2	2	3			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr7:6634134G>T	ENST00000344417.5	+	3	750	c.483G>T	c.(481-483)ccG>ccT	p.P161P	C7orf26_ENST00000359073.5_Silent_p.P142P|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	161										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GTTTGGTGCCGGGATCCATTC	0.532																																					p.P161P													.	.			0			c.G483T												220	195	203					7																	6634134		2203	4300	6503	SO:0001819	synonymous_variant	79034	exon3			GGTGCCGGGATCC	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.483G>T	7.37:g.6634134G>T			89	0	0		125	0.16	20	NM_024067	404	0.2	80	Q9BQ43	Silent	SNP	ENST00000344417.5	37	CCDS5353.1																																																																																					0.532	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246844.2		NM_024067		T	6634134	G	T	6634134	2	4	5	1	0	0	0	0	0	0	0	1	2383	1103	39	1		1	C7orf26	7	6634134	Silent	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	852995	6634134	152504529	19	254											
ZNF680	340252	ucsc.edu	37	chr7	63981631	63981631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctagtaaggtgtgaggaccGgttaaaagctttgccacatt	11	12	11	7	1	1	1	0	1	1	0	1	2	1	2	2	3	2	3	2	3	4	5			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr7:63981631G>A	ENST00000309683.6	-	4	1652	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TGTGAGGACCGGTTAAAAGCT	0.358																																					p.R501W													ZNF680,NS,carcinoma,+1,1	ZNF680	58	1	0			c.C1501T												65	69	67					7																	63981631		2203	4300	6503	SO:0001583	missense	340252	exon4			AGGACCGGTTAAA	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1501C>T	7.37:g.63981631G>A	ENSP00000309330:p.Arg501Trp		132	0	0		180	0.01	1	NM_178558	105	0.23	24	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.035027	0.54896	.	.	ENSG00000173041	ENST00000309683	T	0.58210	0.35	1.31	-2.46	0.06461	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51466	0.1676	L	0.45285	1.41	0.09310	N	1	D	0.89917	1.0	D	0.64877	0.93	T	0.41142	-0.9525	9	0.27082	T	0.32	.	2.0402	0.03549	0.2511:0.0:0.4566:0.2924	.	501	Q8NEM1	ZN680_HUMAN	W	501	ENSP00000309330:R501W	ENSP00000309330:R501W	R	-	1	2	ZNF680	63619066	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	0.133000	0.15912	-0.859000	0.04105	-0.359000	0.07587	CGG			0.358	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344568.1		NM_178558		A	63981631	G	A	63981631	3	1	5	1	0	0	0	0	1	0	0	0	18110	1115	39	1	95	1	ZNF680	7	63981631	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	57347497	63981631	95157032	20	255											
CASD1	64921	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	94167043	94167043	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttcattagaaatactttTacaatctttctgcaaacttg	12	17	4	8	0	4	1	1	0	3	1	4	1	4	1	0	0	4	1	0	0	6	7			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr7:94167043T>G	ENST00000297273.4	+	9	1390	c.1103T>G	c.(1102-1104)tTa>tGa	p.L368*		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	368						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)			GAAATACTTTTACAATCTTTC	0.348																																					p.L368X													.	.			0			c.T1103G												107	120	115					7																	94167043		2203	4300	6503	SO:0001587	stop_gained	64921	exon9			TACTTTTACAATC	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.1103T>G	7.37:g.94167043T>G	ENSP00000297273:p.Leu368*		99	0	0		172	0.23	39	NM_022900	67	0.16	11	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Nonsense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	T	39	7.789653	0.98492	.	.	ENSG00000127995	ENST00000297273	.	.	.	5.51	5.51	0.81932	.	0.304630	0.31415	N	0.007690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9173	0.79531	0.0:0.0:0.0:1.0	.	.	.	.	X	368	.	ENSP00000297273:L368X	L	+	2	0	CASD1	94004979	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	6.051000	0.71072	2.226000	0.72624	0.477000	0.44152	TTA			0.348	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255216.1		NM_022900		G	94167043	T	G	94167043	4	3	5	1	0	0	0	0	0	1	0	0	2666	1764	61	4	1137	4	CASD1	7	94167043	Nonsense_Mutation	SNP	T	TCGA-2G-AAF6-01A-11D-A42Y-10	30185412	94167043	64971620	21	256											
EPHB4	2050	hgsc.bcm.edu;broad.mit.edu	37	chr7	100421432	100421432	+	Frame_Shift_Del	DEL	C	C	-																															tggcgtacacgtggacggcgCcccgccgtgggacccaacct																										TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr7:100421432delC	ENST00000358173.3	-	3	713	c.245delG	c.(244-246)ggcfs	p.G82fs	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Frame_Shift_Del_p.G82fs|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	82	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGGACGGCGCCCCGCCGTGG	0.672																																					p.G82fs	GBM(200;2113 3072 25865 52728)												EPHB4,NS,carcinoma,0,1	EPHB4	106		0			c.246delC												45	41	43					7																	100421432		2202	4299	6501	SO:0001589	frameshift_variant	2050	exon3			ACGGCGCCCCGCC	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.245delG	7.37:g.100421432delC	ENSP00000350896:p.Gly82fs		48	0	0		72	0.15	11	NM_004444	300	0	0	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Frame_Shift_Del	DEL	ENST00000358173.3	37	CCDS5706.1																																																																																					0.672	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347222.1		NM_004444		-	100421432	C	-	100421432	7	5	5	1	0	1	0	1	0	0	0	0	5184	739	26	0	2778	0	EPHB4	7	100421432	Frame_Shift_Del	DEL	C	TCGA-2G-AAF6-01A-11D-A42Y-10	6254389	100421432	58717231	22	257											
XKR6	286046	mdanderson.org	37	chr8	10755923	10755923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagtataagagcatcattgCgatcccagccacaaagctaa	16	8	7	10	1	1	1	1	0	0	1	2	2	2	1	2	0	4	3	2	0	5	5			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr8:10755923C>T	ENST00000416569.2	-	3	1491	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	XKR6_ENST00000304437.2_Missense_Mutation_p.A210T	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	489						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGCATCATTGCGATCCCAGCC	0.522																																					p.A489T													XKR6,colon,carcinoma,0,1	XKR6	0	1	0			c.G1465A												91	80	84					8																	10755923		2203	4300	6503	SO:0001583	missense	286046	exon3			TCATTGCGATCCC	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1465G>A	8.37:g.10755923C>T	ENSP00000416707:p.Ala489Thr		40	0	0		68	0.06	4	NM_173683	0		0	Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230769	0.39399	.	.	ENSG00000171044	ENST00000304437;ENST00000416569	T;T	0.64085	-0.08;-0.08	5.37	3.55	0.40652	.	0.569202	0.18153	N	0.150009	T	0.50222	0.1603	L	0.39514	1.22	0.35038	D	0.759446	B	0.12013	0.005	B	0.11329	0.006	T	0.51576	-0.8688	10	0.26408	T	0.33	-16.5139	10.0335	0.42114	0.0:0.8356:0.0:0.1644	.	489	Q5GH73	XKR6_HUMAN	T	210;489	ENSP00000307120:A210T;ENSP00000416707:A489T	ENSP00000307120:A210T	A	-	1	0	XKR6	10793333	0.996000	0.38824	0.189000	0.23252	0.888000	0.51559	3.304000	0.51866	0.625000	0.30304	0.561000	0.74099	GCA			0.522	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383958.1		NM_173683		T	10755923	C	T	10755923	3	4	5	1	0	0	0	0	1	0	0	0	17459	768	27	1	464	1	XKR6	8	10755923	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10		10755923	135608099	23	258											
PKHD1L1	93035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	110498968	110498968	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatcaaaatagttggtgaAgattaccccggttggtctga	13	11	10	7	1	2	3	1	2	1	1	2	3	2	3	2	3	2	2	2	3	6	4			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr8:110498968A>T	ENST00000378402.5	+	59	9902	c.9798A>T	c.(9796-9798)gaA>gaT	p.E3266D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3266					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)			TAGTTGGTGAAGATTACCCCG	0.433										HNSCC(38;0.096)																											p.E3266D													.	.			0			c.A9798T												218	218	218					8																	110498968		1953	4129	6082	SO:0001583	missense	93035	exon59			TGGTGAAGATTAC	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.9798A>T	8.37:g.110498968A>T	ENSP00000367655:p.Glu3266Asp		195	0	0		287	0.16	47	NM_177531	0		0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	9.955	1.221348	0.22457	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.83506	-1.73;-1.73	5.42	1.42	0.22433	Pectin lyase fold/virulence factor (1);	0.185291	0.45606	N	0.000342	T	0.65533	0.2700	N	0.21617	0.685	0.23533	N	0.997478	B	0.06786	0.001	B	0.08055	0.003	T	0.45687	-0.9244	10	0.16896	T	0.51	.	5.6988	0.17871	0.6927:0.1409:0.1663:0.0	.	3266	Q86WI1	PKHL1_HUMAN	D	3266;194	ENSP00000367655:E3266D;ENSP00000437376:E194D	ENSP00000367655:E3266D	E	+	3	2	PKHD1L1	110568144	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	1.104000	0.31074	0.055000	0.16094	-0.376000	0.06991	GAA			0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381017.1		NM_177531		T	110498968	A	T	110498968	3	4	5	1	0	0	0	0	1	0	0	0	11989	69	3	5	10032	5	PKHD1L1	8	110498968	Missense_Mutation	SNP	A	TCGA-2G-AAF6-01A-11D-A42Y-10	99743045	110498968	35865054	24	259											
RAD21	5885	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	117861253	117861254	+	Frame_Shift_Del	DEL	CT	CT	-																															ttcctgatcttgatcgccccCtgatgcatcttcatcctgaa																										TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	CT	CT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr8:117861253_117861254delCT	ENST00000297338.2	-	13	1922_1923	c.1635_1636delAG	c.(1633-1638)tcagggfs	p.G547fs	RAD21_ENST00000523986.1_Frame_Shift_Del_p.G51fs|UTP23_ENST00000517820.1_Stop_Codon_Del|RAD21_ENST00000517749.1_De_novo_Start_InFrame|UTP23_ENST00000520733.1_Frame_Shift_Del_p.L58fs|RAD21_ENST00000518055.1_Frame_Shift_Del_p.G92fs	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	547					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGATCGCCCCCTGATGCATCTT	0.406																																					p.546_546del													.	RAD21	95		0			c.1636_1637del																																									SO:0001589	frameshift_variant	5885	exon13			CGCCCCCTGATGC	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1635_1636delAG	8.37:g.117861253_117861254delCT	ENSP00000297338:p.Gly547fs		192	0	0		162	0.2	33	NM_006265	563	0.29	164	A8K0E0|Q15001|Q99568	Frame_Shift_Del	DEL	ENST00000297338.2	37	CCDS6321.1																																																																																					0.406	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381184.1		NM_006265		-	117861254	CT	-	117861253	7	5	5	1	0	1	0	1	0	0	0	0	13004	681	24	0	267	0	RAD21	8	117861253	Frame_Shift_Del	DEL	CT	TCGA-2G-AAF6-01A-11D-A42Y-10	7362285	117861253	28502769	25	260											
PHYH	5264	hgsc.bcm.edu	37	chr10	13330436	13330436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccagacagccgttgttcCggctgatgtgctccatcgcc	7	9	10	15	3	0	2	0	1	0	1	3	2	2	2	5	1	3	4	5	1	1	2			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr10:13330436C>T	ENST00000263038.4	-	6	660	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	PHYH_ENST00000396920.3_Missense_Mutation_p.R184Q|PHYH_ENST00000396913.2_Missense_Mutation_p.R101Q	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	201					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.R201Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GCCGTTGTTCCGGCTGATGTG	0.627																																					p.R201Q													PHYH,NS,carcinoma,-1,2	PHYH	-1	2	1	Substitution - Missense(1)	prostate(1)	c.G602A												68	65	66					10																	13330436		2203	4300	6503	SO:0001583	missense	5264	exon6			TTGTTCCGGCTGA		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.602G>A	10.37:g.13330436C>T	ENSP00000263038:p.Arg201Gln		73	0.0136986301	1		72	0.04	3	NM_006214	73	0	0	A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055245	0.55325	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.69	3.85	0.44370	.	0.150191	0.56097	N	0.000034	D	0.91994	0.7464	M	0.90019	3.08	0.23820	N	0.996755	P;D	0.56035	0.947;0.974	P;P	0.51229	0.532;0.663	D	0.84800	0.0784	10	0.30854	T	0.27	-19.1168	10.3563	0.43967	0.0:0.7722:0.0:0.2278	.	184;201	B1ALH6;O14832	.;PAHX_HUMAN	Q	101;201;184;101;203	ENSP00000380121:R101Q;ENSP00000263038:R201Q;ENSP00000380126:R184Q;ENSP00000412525:R101Q;ENSP00000420117:R203Q	ENSP00000263038:R201Q	R	-	2	0	PHYH	13370442	0.997000	0.39634	0.224000	0.23877	0.025000	0.11179	3.279000	0.51670	0.764000	0.33197	0.655000	0.94253	CGG			0.627	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046845.2				T	13330436	C	T	13330436	3	4	5	1	0	0	0	0	1	0	0	0	11881	652	23	1	430	1	PHYH	10	13330436	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10		13330436	122204311	26	261											
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	55583018	55583018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgacttgtgagcctcaaTagtattggaagaaaagggca	14	9	12	6	0	1	3	1	2	0	1	1	4	1	4	1	2	2	3	1	2	6	4			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr10:55583018T>C	ENST00000320301.6	-	33	4862	c.4468A>G	c.(4468-4470)Att>Gtt	p.I1490V	PCDH15_ENST00000395433.1_Missense_Mutation_p.I1467V|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1492V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1487V|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1421V|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1450V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1490					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)				TGAGCCTCAATAGTATTGGAA	0.393										HNSCC(58;0.16)																											p.I1497V													.	.			0			c.A4489G												113	111	111					10																	55583018		2203	4300	6503	SO:0001583	missense	65217	exon35			CCTCAATAGTATT	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.4468A>G	10.37:g.55583018T>C	ENSP00000322604:p.Ile1490Val		88	0	0		94	0.26	24	NM_001142763	0		0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943950	0.34283	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.60424	0.26;0.24;0.29;0.24;0.24;0.19	6.02	-2.26	0.06867	.	.	.	.	.	T	0.49949	0.1587	L	0.61218	1.895	0.27132	N	0.96186	B;B;B;B;B;B;B;B	0.09022	0.001;0.002;0.002;0.002;0.002;0.002;0.001;0.002	B;B;B;B;B;B;B;B	0.12837	0.005;0.008;0.008;0.008;0.008;0.008;0.005;0.008	T	0.42749	-0.9433	9	0.20519	T	0.43	.	11.563	0.50788	0.0:0.3938:0.0:0.6062	.	1467;1490;1492;1497;1421;1450;1487;1490	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	V	1450;1492;1467;1490;1487;1497;1421	ENSP00000378820:I1450V;ENSP00000354950:I1492V;ENSP00000378821:I1467V;ENSP00000322604:I1490V;ENSP00000378818:I1487V;ENSP00000412628:I1421V	ENSP00000322604:I1490V	I	-	1	0	PCDH15	55253024	0.995000	0.38212	0.004000	0.12327	0.885000	0.51271	0.267000	0.18552	-0.673000	0.05259	-0.297000	0.09499	ATT			0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000048121.2		NM_033056		C	55583018	T	C	55583018	3	2	5	1	0	0	0	0	1	0	0	0	11528	1406	49	4	3009	4	PCDH15	10	55583018	Missense_Mutation	SNP	T	TCGA-2G-AAF6-01A-11D-A42Y-10	42252582	55583018	79951729	27	262											
NPFFR1	64106	mdanderson.org	37	chr10	72014845	72014845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccccactgctagggccCgactcagagggcagcccgga	7	3	16	15	2	1	1	1	0	0	1	1	3	1	2	4	5	2	2	4	5	1	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr10:72014845C>T	ENST00000277942.6	-	4	1160	c.1161G>A	c.(1159-1161)tcG>tcA	p.S387S		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	387					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						TGCTAGGGCCCGACTCAGAGG	0.746																																					p.S387S													.	.			0			c.G1161A												3	4	4					10																	72014845		1614	3547	5161	SO:0001819	synonymous_variant	64106	exon4			AGGGCCCGACTCA	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	17425	protein-coding gene	gene with protein product	"neuropeptide FF 1"	607448	"G protein-coupled receptor 147"	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.1161G>A	10.37:g.72014845C>T			12	0	0		14	0.14	2	NM_022146	0		0	A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	ENST00000277942.6	37	CCDS53539.1																																																																																					0.746	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048504.2		NM_022146		T	72014845	C	T	72014845	2	4	5	1	0	0	0	0	0	0	0	1	10594	639	23	1		1	NPFFR1	10	72014845	Silent	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	16431827	72014845	63519902	28	263											
ZMIZ1	57178	mdanderson.org	37	chr10	81061922	81061922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtccgctctgtgctgcaagGactcctcaagaagcgcctcc	7	8	10	16	3	2	1	1	0	1	1	5	2	5	2	4	1	3	3	4	1	3	0			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr10:81061922G>T	ENST00000334512.5	+	18	2650	c.2078G>T	c.(2077-2079)gGa>gTa	p.G693V		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	693					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)			GTGCTGCAAGGACTCCTCAAG	0.632																																					p.G693V													.	.			0			c.G2078T												115	107	110					10																	81061922		2203	4300	6503	SO:0001583	missense	57178	exon18			TGCAAGGACTCCT	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.2078G>T	10.37:g.81061922G>T	ENSP00000334474:p.Gly693Val		60	0	0		28	0.11	3	NM_020338	283	0	0	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327494	0.95733	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.35973	1.28	5.51	5.51	0.81932	.	0.000000	0.42294	D	0.000726	T	0.64702	0.2622	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.67480	-0.5660	10	0.59425	D	0.04	-15.7626	19.427	0.94746	0.0:0.0:1.0:0.0	.	693	Q9ULJ6	ZMIZ1_HUMAN	V	693;623;598	ENSP00000334474:G693V	ENSP00000334474:G693V	G	+	2	0	ZMIZ1	80731928	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.413000	0.97351	2.577000	0.86979	0.561000	0.74099	GGA			0.632	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048944.2		NM_020338		T	81061922	G	T	81061922	3	4	5	1	0	0	0	0	1	0	0	0	17719	1174	41	3	2132	3	ZMIZ1	10	81061922	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	9047077	81061922	54472825	29	264											
INPP5A	3632	mdanderson.org	37	chr10	134523943	134523943	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatccggcacaaggcactGggctacgtgctggacaggta	10	6	15	10	2	0	0	0	0	0	0	1	2	1	2	1	6	2	5	1	6	4	2			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr10:134523943G>T	ENST00000368594.3	+	8	907	c.630G>T	c.(628-630)ctG>ctT	p.L210L	INPP5A_ENST00000368593.3_Silent_p.L210L|INPP5A_ENST00000487614.1_3'UTR	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	210					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		ACAAGGCACTGGGCTACGTGC	0.592																																					p.L210L	Pancreas(63;823 1267 11107 20380 51626)												.	.			0			c.G630T												71	55	60					10																	134523943		2203	4300	6503	SO:0001819	synonymous_variant	3632	exon8			GGCACTGGGCTAC	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.630G>T	10.37:g.134523943G>T			67	0	0		54	0.06	3	NM_005539	44	0	0	D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	8.619	0.890877	0.17613	.	.	ENSG00000068383	ENST00000342652	.	.	.	4.38	-0.523	0.11924	.	.	.	.	.	T	0.54224	0.1845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47509	-0.9112	4	.	.	.	-15.637	8.338	0.32225	0.0875:0.0:0.2626:0.6499	.	.	.	.	W	182	.	.	G	+	1	0	INPP5A	134373933	1.000000	0.71417	0.972000	0.41901	0.917000	0.54804	1.032000	0.30178	0.028000	0.15324	-0.156000	0.13503	GGG			0.592	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051085.1		NM_005539		T	134523943	G	T	134523943	2	4	5	1	0	0	0	0	0	0	0	1	7769	1335	47	3		3	INPP5A	10	134523943	Silent	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	53462021	134523943	1010804	30	265											
VENTX	27287	mdanderson.org	37	chr10	135053695	135053695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcgggagcttcctgctGcgggcagcctctggcgtccc	3	9	14	15	3	2	0	0	0	2	0	4	1	4	1	3	3	5	3	3	3	0	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr10:135053695G>T	ENST00000325980.9	+	3	1173	c.662G>T	c.(661-663)tGc>tTc	p.C221F		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	221					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCTTCCTGCTGCGGGCAGCCT	0.716																																					p.C221F													.	.			0			c.G662T												10	12	12					10																	135053695		2168	4259	6427	SO:0001583	missense	27287	exon3			CCTGCTGCGGGCA	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.662G>T	10.37:g.135053695G>T	ENSP00000357556:p.Cys221Phe		23	0	0		18	0.11	2	NM_014468	266	0	0	Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	G	0.868	-0.733133	0.03135	.	.	ENSG00000151650	ENST00000325980	D	0.90844	-2.74	1.67	0.748	0.18376	.	1.194470	0.06142	U	0.672502	T	0.78616	0.4311	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.63726	-0.6572	10	0.09590	T	0.72	.	3.9536	0.09380	0.2277:0.0:0.7723:0.0	.	221	O95231	VENTX_HUMAN	F	221	ENSP00000357556:C221F	ENSP00000357556:C221F	C	+	2	0	VENTX	134903685	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.781000	0.04648	0.278000	0.22164	0.442000	0.29010	TGC			0.716	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051116.4		NM_014468		T	135053695	G	T	135053695	3	4	5	1	0	0	0	0	1	0	0	0	17177	1319	46	2	672	2	VENTX	10	135053695	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	529752	135053695	481052	31	266											
OR51E1	143503	broad.mit.edu	37	chr11	4674157	4674157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctgtcacccactgcGccatgccacagtacttacgt	8	9	8	16	2	2	0	1	0	1	0	2	0	2	0	4	1	4	1	4	1	2	2	rs192878981		TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr11:4674157G>T	ENST00000396952.5	+	2	1051	c.401G>T	c.(400-402)cGc>cTc	p.R134L	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCACTGCGCCATGCCACA	0.557																																					p.R134L													OR51E1,caecum,carcinoma,-1,3	OR51E1	67	3	0			c.G401T												128	99	109					11																	4674157		2201	4298	6499	SO:0001583	missense	143503	exon2			CACTGCGCCATGC	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.401G>T	11.37:g.4674157G>T	ENSP00000380155:p.Arg134Leu		82	0	0		73	0.07	5	NM_152430	0		0	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279510	0.59758	.	.	ENSG00000180785	ENST00000396952	T	0.01767	4.65	4.98	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.132494	0.33217	N	0.005147	T	0.07052	0.0179	M	0.66378	2.025	0.50467	D	0.999871	P	0.52316	0.952	D	0.65573	0.936	T	0.04427	-1.0952	10	0.87932	D	0	.	9.2214	0.37379	0.2351:0.0:0.7649:0.0	.	133	Q8TCB6	O51E1_HUMAN	L	134	ENSP00000380155:R134L	ENSP00000380155:R134L	R	+	2	0	OR51E1	4630733	0.001000	0.12720	0.999000	0.59377	0.886000	0.51366	0.926000	0.28804	1.340000	0.45581	0.655000	0.94253	CGC			0.557	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347136.2		NM_152430		T	4674157	G	T	4674157	3	4	5	1	0	0	0	0	1	0	0	0	11111	1087	38	1	403	1	OR51E1	11	4674157	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10		4674157	130332359	32	267											
VWCE	220001	mdanderson.org	37	chr11	61039229	61039229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgttgtcgtcaagagagCagcctggatgaggacaatgg	10	7	14	10	2	1	2	1	1	0	1	2	5	1	4	3	3	2	2	3	3	2	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr11:61039229C>T	ENST00000335613.5	-	14	2089	c.1703G>A	c.(1702-1704)tGc>tAc	p.C568Y	VWCE_ENST00000535710.1_Missense_Mutation_p.C33Y	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	568	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTCAAGAGAGCAGCCTGGATG	0.532																																					p.C568Y													.	.			0			c.G1703A												112	83	93					11																	61039229		2203	4299	6502	SO:0001583	missense	220001	exon14			AGAGAGCAGCCTG	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1703G>A	11.37:g.61039229C>T	ENSP00000334186:p.Cys568Tyr		57	0	0		65	0.06	4	NM_152718	24	0	0	A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188789	0.57909	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	D;D	0.99388	-5.81;-5.81	4.77	4.77	0.60923	von Willebrand factor, type C (2);	0.000000	0.49916	D	0.000127	D	0.98924	0.9635	L	0.39898	1.24	0.42438	D	0.992709	D	0.71674	0.998	D	0.80764	0.994	D	0.99888	1.1127	10	0.56958	D	0.05	.	15.5959	0.76578	0.0:1.0:0.0:0.0	.	568	Q96DN2	VWCE_HUMAN	Y	568;33	ENSP00000334186:C568Y;ENSP00000442570:C33Y	ENSP00000334186:C568Y	C	-	2	0	VWCE	60795805	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	3.684000	0.54671	2.187000	0.69744	0.455000	0.32223	TGC			0.532	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398811.1		NM_152718		T	61039229	C	T	61039229	3	4	5	1	0	0	0	0	1	0	0	0	17269	710	25	2	1192	2	VWCE	11	61039229	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	56365072	61039229	73967287	33	268											
PICALM	8301	ucsc.edu	37	chr11	85685760	85685760	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtaatacctgtgctccTgatacagggccaaaggggtt	9	11	13	8	0	0	1	0	1	0	0	1	1	1	1	3	3	3	3	3	3	4	4			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr11:85685760T>C	ENST00000393346.3	-	19	2083	c.1935A>G	c.(1933-1935)tcA>tcG	p.S645S	PICALM_ENST00000528398.1_Silent_p.S544S|PICALM_ENST00000532317.1_Silent_p.S603S|PICALM_ENST00000356360.5_Silent_p.S625S|PICALM_ENST00000526033.1_Silent_p.S638S			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	645					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCTGTGCTCCTGATACAGGGC	0.413			T	"MLLT10, MLL"	"TALL, AML, "																																p.S645S				Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	.	PICALM	82		0			c.A1935G												205	172	183					11																	85685760		2203	4299	6502	SO:0001819	synonymous_variant	8301	exon19			TGCTCCTGATACA	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1935A>G	11.37:g.85685760T>C			75	0	0		43	0.09	4	NM_007166	144	0	0	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.943|9.943	1.217908|1.217908	0.22373|0.22373	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000530692|ENST00000529760;ENST00000532603;ENST00000526961	.|.	.|.	.|.	5.78|5.78	4.66|4.66	0.58398|0.58398	.|.	.|.	.|.	.|.	.|.	T|T	0.60261|0.60261	0.2255|0.2255	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57353|0.57353	-0.7826|-0.7826	4|4	.|.	.|.	.|.	-2.4982|-2.4982	9.6252|9.6252	0.39746|0.39746	0.0:0.1887:0.0:0.8113|0.0:0.1887:0.0:0.8113	.|.	.|.	.|.	.|.	R|G	182|301;127;257	.|.	.|.	Q|R	-|-	2|1	0|2	PICALM|PICALM	85363408|85363408	0.947000|0.947000	0.32204|0.32204	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	-0.066000|-0.066000	0.11598|0.11598	1.133000|1.133000	0.42147|0.42147	-0.326000|-0.326000	0.08463|0.08463	CAG|AGG			0.413	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392224.1		NM_007166		C	85685760	T	C	85685760	2	2	5	1	0	0	0	0	0	0	0	1	11897	1567	55	4		4	PICALM	11	85685760	Silent	SNP	T	TCGA-2G-AAF6-01A-11D-A42Y-10	24646531	85685760	49320756	34	269											
PGR	5241	mdanderson.org	37	chr11	100999388	100999388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccaaacaggcaccaagaGctggtgacctcgcaggcggg	10	3	16	12	2	0	2	0	1	0	1	1	2	0	2	3	5	2	3	3	5	2	0			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr11:100999388G>T	ENST00000325455.5	-	1	1867	c.414C>A	c.(412-414)agC>agA	p.S138R	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.S138R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	138	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGCACCAAGAGCTGGTGACCT	0.667																																					p.S138R	Pancreas(124;2271 2354 21954 22882)												.	.			0			c.C414A												17	16	16					11																	100999388		2199	4297	6496	SO:0001583	missense	5241	exon1			CCAAGAGCTGGTG	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.414C>A	11.37:g.100999388G>T	ENSP00000325120:p.Ser138Arg		21	0	0		23	0.09	2	NM_000926	0		0	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977364	0.53720	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.07688	3.17;3.17	4.09	2.19	0.27852	.	0.565884	0.16650	N	0.205259	T	0.11281	0.0275	M	0.65498	2.005	0.24306	N	0.995109	P;P	0.44946	0.846;0.748	B;B	0.43701	0.428;0.428	T	0.14090	-1.0485	10	0.72032	D	0.01	.	5.5482	0.17076	0.2585:0.0:0.7415:0.0	.	138;138	Q8TDS3;P06401	.;PRGR_HUMAN	R	138	ENSP00000325120:S138R;ENSP00000263463:S138R	ENSP00000263463:S138R	S	-	3	2	PGR	100504598	0.053000	0.20554	0.502000	0.27614	0.975000	0.68041	0.196000	0.17176	0.376000	0.24707	0.561000	0.74099	AGC			0.667	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394934.1				T	100999388	G	T	100999388	3	4	5	1	0	0	0	0	1	0	0	0	11822	962	34	2	2419	2	PGR	11	100999388	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	15313628	100999388	34007128	35	270											
ST14	6768	mdanderson.org	37	chr11	130060496	130060496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgctgagcctcaccttccGcagctttgaccttgcgtcct	5	12	9	15	2	1	2	1	2	0	0	3	2	3	2	5	0	4	3	5	0	0	3	rs560453267		TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr11:130060496G>T	ENST00000278742.5	+	7	1200	c.782G>T	c.(781-783)cGc>cTc	p.R261L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	261	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTCACCTTCCGCAGCTTTGAC	0.682																																					p.R261L													.	.			0			c.G782T												36	29	31					11																	130060496		2201	4297	6498	SO:0001583	missense	6768	exon7			CCTTCCGCAGCTT	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.782G>T	11.37:g.130060496G>T	ENSP00000278742:p.Arg261Leu		51	0	0		49	0.06	3	NM_021978	16	0	0	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146925	0.57151	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.17370	2.28	5.55	3.35	0.38373	CUB (5);	0.505513	0.15228	N	0.273584	T	0.11367	0.0277	L	0.38175	1.15	0.33427	D	0.580584	P;P	0.44946	0.846;0.793	B;B	0.39904	0.313;0.209	T	0.16070	-1.0415	10	0.24483	T	0.36	.	4.8643	0.13600	0.2867:0.1679:0.5454:0.0	.	71;261	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	L	261;163	ENSP00000278742:R261L	ENSP00000278742:R261L	R	+	2	0	ST14	129565706	0.113000	0.22115	1.000000	0.80357	0.992000	0.81027	0.552000	0.23376	1.357000	0.45904	0.650000	0.86243	CGC			0.682	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386119.1				T	130060496	G	T	130060496	3	4	5	1	0	0	0	0	1	0	0	0	15234	1087	38	1	808	1	ST14	11	130060496	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	29061108	130060496	4946020	36	271											
LRP6	4040	broad.mit.edu	37	chr12	12303884	12303884	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattccgaaggctgtggatGggaaggatgatgtcggggct	9	9	17	6	2	0	1	0	1	0	0	2	5	1	4	1	6	0	2	1	6	2	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr12:12303884G>T	ENST00000261349.4	-	13	2956	c.2880C>A	c.(2878-2880)ccC>ccA	p.P960P	LRP6_ENST00000543091.1_Silent_p.P960P	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	960	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCTGTGGATGGGAAGGATGA	0.488																																					p.P960P													.	LRP6	170		0			c.C2880A												171	150	157					12																	12303884		2203	4300	6503	SO:0001819	synonymous_variant	4040	exon13			GTGGATGGGAAGG	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2880C>A	12.37:g.12303884G>T			165	0.0060606061	1		203	0.02	4	NM_002336	58	0	0	Q17RZ2	Silent	SNP	ENST00000261349.4	37	CCDS8647.1																																																																																					0.488	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400137.1				T	12303884	G	T	12303884	2	4	5	1	0	0	0	0	0	0	0	1	8978	1335	47	3		3	LRP6	12	12303884	Silent	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10		12303884	121548011	37	272											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_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)																											p.G12V	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,NS,adenocarcinoma,0,25136	KRAS_ENST00000256078	0	25136	15813	Substitution - Missense(15812)|Deletion - Frameshift(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)	c.G35T												91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	exon2	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	ACGCCACCAGCTC	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		175	0	0		244	0.18	43	NM_004985	45	0.22	10	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	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		A	25398284	C	A	25398284	3	1	5	1	0	0	0	0	1	0	0	0	8453	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	13094400	25398284	108453611	38	273											
PLXNC1	10154	mdanderson.org	37	chr12	94542977	94542977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcctggagcacagcctctCgcgcctgtaccgggaccaag	8	5	12	16	3	1	0	0	0	1	0	2	2	1	2	5	2	4	2	5	2	2	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr12:94542977C>T	ENST00000258526.4	+	1	479	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	77	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						CACAGCCTCTCGCGCCTGTAC	0.711																																					p.S77L													.	.			0			c.C230T												16	19	18					12																	94542977		2174	4257	6431	SO:0001583	missense	10154	exon1			GCCTCTCGCGCCT	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.230C>T	12.37:g.94542977C>T	ENSP00000258526:p.Ser77Leu		25	0	0		29	0.1	3	NM_005761	3	0	0	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395721	0.62177	.	.	ENSG00000136040	ENST00000258526	T	0.05258	3.47	4.48	3.59	0.41128	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.793652	0.10574	N	0.658833	T	0.08582	0.0213	L	0.57536	1.79	0.80722	D	1	B	0.26041	0.14	B	0.12156	0.007	T	0.05699	-1.0869	10	0.72032	D	0.01	.	8.8437	0.35157	0.1483:0.7703:0.0:0.0814	.	77	O60486	PLXC1_HUMAN	L	77	ENSP00000258526:S77L	ENSP00000258526:S77L	S	+	2	0	PLXNC1	93067108	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	3.336000	0.52113	0.862000	0.35528	0.455000	0.32223	TCG			0.711	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408126.2				T	94542977	C	T	94542977	3	4	5	1	0	0	0	0	1	0	0	0	12143	893	31	1	232	1	PLXNC1	12	94542977	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	69144693	94542977	39308918	39	274											
METAP2	10988	broad.mit.edu	37	chr12	95867964	95867964	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgggcaacatggcgggTgtggaggaggtagcggcctc	6	7	18	10	3	1	0	0	0	1	0	3	2	1	2	1	7	2	2	1	7	2	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr12:95867964T>G	ENST00000323666.5	+	1	238	c.9T>G	c.(7-9)ggT>ggG	p.G3G	METAP2_ENST00000551840.1_Silent_p.G3G|METAP2_ENST00000261220.9_Silent_p.G3G|METAP2_ENST00000546753.1_Silent_p.G3G|METAP2_ENST00000550777.1_Silent_p.G3G	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						ACATGGCGGGTGTGGAGGAGG	0.652																																					p.G3G													.	METAP2	28		0			c.T9G												34	42	39					12																	95867964		2203	4297	6500	SO:0001819	synonymous_variant	10988	exon1			GGCGGGTGTGGAG	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"Peptidase M"	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.9T>G	12.37:g.95867964T>G			90	0.2	18		110	0.23	25	NM_006838	235	0.07	16		Silent	SNP	ENST00000323666.5	37	CCDS9052.1																																																																																					0.652	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408296.1		NM_006838		G	95867964	T	G	95867964	2	3	5	1	0	0	0	0	0	0	0	1	9503	1683	59	4		4	METAP2	12	95867964	Silent	SNP	T	TCGA-2G-AAF6-01A-11D-A42Y-10	1324987	95867964	37983931	40	275											
GPC5	2262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	92345961	92345961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcatgcgaggctgcctGgcgcacatggcggagcttaa	9	8	14	10	3	1	0	1	0	0	0	1	2	1	1	1	4	3	3	1	4	2	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr13:92345961G>A	ENST00000377067.3	+	3	1218	c.846G>A	c.(844-846)ctG>ctA	p.L282L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	282					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)				GAGGCTGCCTGGCGCACATGG	0.552																																					p.L282L													.	.			0			c.G846A												111	98	103					13																	92345961		2203	4300	6503	SO:0001819	synonymous_variant	2262	exon3			CTGCCTGGCGCAC	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.846G>A	13.37:g.92345961G>A			57	0	0		47	0.47	22	NM_004466	0		0	B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	CCDS9468.1																																																																																					0.552	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045454.1		NM_004466		A	92345961	G	A	92345961	2	1	5	1	0	0	0	0	0	0	0	1	6615	1335	47	3		3	GPC5	13	92345961	Silent	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10		92345961	22823917	41	276											
ATG2B	55102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	96772134	96772134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaaccatgatttttataaCtggttcttcttccttctcct	8	19	3	11	0	4	1	1	1	3	0	6	1	5	1	3	1	2	1	3	1	3	8			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr14:96772134C>A	ENST00000359933.4	-	31	5418	c.4525G>T	c.(4525-4527)Gtt>Ttt	p.V1509F	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1509					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)		ATTTTTATAACTGGTTCTTCT	0.373																																					p.V1509F													.	.			0			c.G4525T												94	90	91					14																	96772134		2203	4300	6503	SO:0001583	missense	55102	exon31			TTATAACTGGTTC	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.4525G>T	14.37:g.96772134C>A	ENSP00000353010:p.Val1509Phe		81	0	0		99	0.29	29	NM_018036	13	0.38	5	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931561	0.52866	.	.	ENSG00000066739	ENST00000359933	T	0.60424	0.19	5.55	2.69	0.31865	.	0.448845	0.24182	N	0.040791	T	0.47432	0.1445	M	0.66939	2.045	0.25297	N	0.989311	P	0.38250	0.624	B	0.32149	0.141	T	0.46359	-0.9197	10	0.56958	D	0.05	.	5.2487	0.15510	0.1298:0.5749:0.0:0.2952	.	1509	Q96BY7	ATG2B_HUMAN	F	1509	ENSP00000353010:V1509F	ENSP00000261834:V153F	V	-	1	0	ATG2B	95841887	0.857000	0.29778	0.381000	0.26106	0.928000	0.56348	1.688000	0.37690	0.274000	0.22072	0.591000	0.81541	GTT			0.373	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314037.1		NM_018036		A	96772134	C	A	96772134	3	1	5	1	0	0	0	0	1	0	0	0	1094	565	20	3	1759	3	ATG2B	14	96772134	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10		96772134	10577406	42	277											
GABPB1	2553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	50581739	50581739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caattccactggttggaataGagtgcaaatttccaagctga	13	11	9	8	0	0	2	0	1	0	1	2	3	2	3	2	2	2	3	2	2	5	4			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr15:50581739G>C	ENST00000220429.8	-	7	1028	c.860C>G	c.(859-861)tCt>tGt	p.S287C	GABPB1_ENST00000359031.4_Missense_Mutation_p.S275C|GABPB1_ENST00000560825.1_Missense_Mutation_p.S274C|GABPB1_ENST00000429662.2_Missense_Mutation_p.S287C|GABPB1_ENST00000380877.3_Missense_Mutation_p.S275C|GABPB1_ENST00000543881.1_Missense_Mutation_p.S211C|GABPB1_ENST00000396464.3_Missense_Mutation_p.S275C			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	287	Transcription activation and HCFC1 interaction.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GGTTGGAATAGAGTGCAAATT	0.403																																					p.S287C													.	.			0			c.C860G												119	112	115					15																	50581739		2196	4295	6491	SO:0001583	missense	2553	exon7			GGAATAGAGTGCA	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.860C>G	15.37:g.50581739G>C	ENSP00000220429:p.Ser287Cys		71	0	0		122	0.22	27	NM_005254	143	0.26	37	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461620	0.84425	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T	0.69040	0.68;-0.37;-0.36;-0.37	5.78	5.78	0.91487	.	0.139122	0.51477	D	0.000095	T	0.76723	0.4027	L	0.36672	1.1	0.51767	D	0.999932	D;D;D;D;D	0.76494	0.999;0.997;0.999;0.997;0.999	D;D;D;D;D	0.79784	0.99;0.951;0.993;0.981;0.937	T	0.76545	-0.2920	10	0.54805	T	0.06	-4.0469	20.0203	0.97492	0.0:0.0:1.0:0.0	.	287;287;275;287;275	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	C	275;287;211;275;287;275	ENSP00000442500:S211C;ENSP00000379728:S275C;ENSP00000395771:S287C;ENSP00000351923:S275C	ENSP00000220429:S275C	S	-	2	0	GABPB1	48369031	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.235000	0.78143	2.730000	0.93505	0.655000	0.94253	TCT			0.403	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000418294.1				C	50581739	G	C	50581739	3	2	5	1	0	0	0	0	1	0	0	0	6171	942	33	5	387	5	GABPB1	15	50581739	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10		50581739	51949653	43	278											
BNIP2	663	mdanderson.org	37	chr15	59981599	59981599	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggcgggggcgtggcGgcggcggaggcgtggcgtct	2	4	26	9	8	1	0	0	0	1	0	1	2	1	2	0	11	0	0	0	11	0	0			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr15:59981599G>T	ENST00000607373.1	-	0	0				RP11-361D15.2_ENST00000560199.1_RNA|BNIP2_ENST00000267859.3_Missense_Mutation_p.P14Q|BNIP2_ENST00000415213.2_5'Flank	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2						apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						ggggcgtggcggcggcggagg	0.721																																					p.P14Q	Ovarian(174;1936 1978 6671 8240 38212)												.	.			0			c.C41A												2	5	5					15																	59981599		542	1399	1941	SO:0001631	upstream_gene_variant	663	exon1			CGTGGCGGCGGCG	U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"BCL2/adenovirus E1B 19kD-interacting protein 2"			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727		15.37:g.59981599G>T	Exception_encountered		43	0	0		54	0.06	3	NM_004330	0		0	B4DS94	Missense_Mutation	SNP	ENST00000607373.1	37		.	.	.	.	.	.	.	.	.	.	G	10.70	1.425172	0.25639	.	.	ENSG00000140299	ENST00000267859	T	0.38401	1.14	.	.	.	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.27673	-1.0067	3	.	.	.	.	.	.	.	.	.	.	.	Q	14	ENSP00000267859:P14Q	.	P	-	2	0	BNIP2	57768891	0.026000	0.19158	0.037000	0.18230	0.268000	0.26511	1.510000	0.35790	0.064000	0.16427	0.064000	0.15345	CCG			0.721	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470740.1		NM_004330		T	59981599	G	T	59981599	1	4	5	0	1	0	0	0	0	0	0	0	1477	1116	39	1		1	BNIP2	15	59981599	5'Flank	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	9399860	59981599	42549793	44	279											
GOLGA6D	653643	broad.mit.edu	37	chr15	75580675	75580676	+	Frame_Shift_Del	DEL	TG	TG	-																															ttggagcgggctctctgtgcTgtgtctacacagcagcagga																										TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr15:75580675_75580676delTG	ENST00000434739.3	+	7	575_576	c.534_535delTG	c.(532-537)gctgtgfs	p.V179fs		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	179						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CTCTCTGTGCTGTGTCTACACA	0.554																																					p.178_179del													.	GOLGA6D	9		0			c.534_535del									0,3424		0,0,1712						1.6	0			12	8,6692		1,6,3343	no	frameshift	GOLGA6D	NM_001145224.1		1,6,5055	A1A1,A1R,RR		0.1194,0.0,0.079				8,10116				SO:0001589	frameshift_variant	653643	exon7			CTGTGCTGTGTCT		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.534_535delTG	15.37:g.75580677_75580678delTG	ENSP00000391085:p.Val179fs		8	0	0		12	0.33	4	NM_001145224	0		0		Frame_Shift_Del	DEL	ENST00000434739.3	37	CCDS45308.1																																																																																					0.554	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419798.1		NM_001145224		-	75580676	TG	-	75580675	7	5	5	1	0	1	0	1	0	0	0	0	6574	1567	55	0	560	0	GOLGA6D	15	75580675	Frame_Shift_Del	DEL	TG	TCGA-2G-AAF6-01A-11D-A42Y-10	15599076	75580675	26950717	45	280											
KREMEN2	79412	mdanderson.org	37	chr16	3017029	3017029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccctgggcccgccaggCgccgcgctggagctcacctt	3	6	15	17	4	1	0	1	0	0	0	1	1	1	1	5	4	1	2	5	4	0	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr16:3017029C>T	ENST00000303746.5	+	6	1336	c.759C>T	c.(757-759)ggC>ggT	p.G253G	KREMEN2_ENST00000319500.6_Silent_p.G253G|PAQR4_ENST00000293978.8_5'Flank|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000576565.1_5'Flank|PAQR4_ENST00000572687.1_5'Flank|KREMEN2_ENST00000575885.1_Silent_p.G214G|PAQR4_ENST00000318782.8_5'Flank|KREMEN2_ENST00000575769.1_Silent_p.G253G|KREMEN2_ENST00000571007.1_Silent_p.G214G|KREMEN2_ENST00000572045.1_Silent_p.G253G			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	253	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059, ECO:0000305}.				Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						GCCCGCCAGGCGCCGCGCTGG	0.736																																					p.G253G													.	.			0			c.C759T												6	8	8					16																	3017029		1868	3761	5629	SO:0001819	synonymous_variant	79412	exon6			GCCAGGCGCCGCG	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.759C>T	16.37:g.3017029C>T			15	0	0		16	0.13	2	NM_024507	3	0	0	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Silent	SNP	ENST00000303746.5	37	CCDS10483.1																																																																																					0.736	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250964.2		NM_145347		T	3017029	C	T	3017029	2	4	5	1	0	0	0	0	0	0	0	1	8458	755	27	1		1	KREMEN2	16	3017029	Silent	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10		3017029	87337724	46	281											
MEFV	4210	mdanderson.org	37	chr16	3304633	3304633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctcccggcctcgggctgGctgcaccgcaggctggcagc	3	5	14	19	3	0	0	0	0	0	0	2	0	1	0	5	5	2	6	5	5	0	0			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr16:3304633G>A	ENST00000219596.1	-	2	474	c.435C>T	c.(433-435)agC>agT	p.S145S	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	145					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						CCTCGGGCTGGCTGCACCGCA	0.711																																					p.S145S													.	.			0			c.C435T												12	13	12					16																	3304633		2135	4211	6346	SO:0001819	synonymous_variant	4210	exon2			GGGCTGGCTGCAC	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.435C>T	16.37:g.3304633G>A			29	0	0		36	0.08	3	NM_000243	0		0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																					0.711	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251464.1		NM_000243		A	3304633	G	A	3304633	2	1	5	1	0	0	0	0	0	0	0	1	9475	1194	42	2		2	MEFV	16	3304633	Silent	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	287604	3304633	87050120	47	282											
TAOK2	9344	mdanderson.org	37	chr16	29996705	29996705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgggagcttgaggcgcagCgggctggctttggggcagag	6	6	21	8	3	0	2	0	1	0	1	0	3	0	3	0	6	3	5	0	6	0	2	rs373048486		TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr16:29996705C>T	ENST00000308893.4	+	14	2637	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	TAOK2_ENST00000279394.3_Missense_Mutation_p.R532W|TAOK2_ENST00000543033.1_Missense_Mutation_p.R532W|TAOK2_ENST00000416441.2_Missense_Mutation_p.R359W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	532					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGAGGCGCAGCGGGCTGGCTT	0.677																																					p.R532W													.	.			0			c.C1594T							C	TRP/ARG,TRP/ARG	0,4390		0,0,2195	17	18	17		1594,1594	4.5	1	16		17	1,8593		0,1,4296	no	missense,missense	TAOK2	NM_004783.2,NM_016151.2	101,101	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	532/1050,532/1236	29996705	1,12983	2195	4297	6492	SO:0001583	missense	9344	exon14			GCGCAGCGGGCTG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1594C>T	16.37:g.29996705C>T	ENSP00000310094:p.Arg532Trp		39	0	0		40	0.08	3	NM_001252043	222	0	0	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306966	0.81247	0.0	1.16E-4	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.43294	0.95;0.95;0.95	5.51	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.77820	2.39	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;0.999;1.0;0.999;0.998	T	0.67452	-0.5667	9	.	.	.	.	14.3534	0.66719	0.1497:0.8503:0.0:0.0	.	723;359;532;532;532	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	W	532	ENSP00000310094:R532W;ENSP00000440336:R532W;ENSP00000279394:R532W	.	R	+	1	2	TAOK2	29904206	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.081000	0.57627	1.274000	0.44362	0.563000	0.77884	CGG			0.677	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000255152.2		NM_016151		T	29996705	C	T	29996705	3	4	5	1	0	0	0	0	1	0	0	0	15571	759	27	1	1644	1	TAOK2	16	29996705	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	26692072	29996705	60358048	48	283											
ITGAL	3683	mdanderson.org	37	chr16	30532938	30532938	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggatcccggctgcctGaagcccctccatgagaagga	8	6	14	13	1	0	2	0	2	0	1	2	5	2	4	5	4	2	2	5	4	2	0			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr16:30532938G>T	ENST00000356798.6	+	31	3645	c.3465G>T	c.(3463-3465)ctG>ctT	p.L1155L	ITGAL_ENST00000433423.2_Silent_p.L389L|ITGAL_ENST00000358164.5_Silent_p.L1071L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1155					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)	CCGGCTGCCTGAAGCCCCTCC	0.607																																					p.L1155L	NSCLC(110;1462 1641 3311 33990 49495)												.	.			0			c.G3465T												61	64	63					16																	30532938		2197	4300	6497	SO:0001819	synonymous_variant	3683	exon31			CTGCCTGAAGCCC		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.3465G>T	16.37:g.30532938G>T			56	0	0		42	0.07	3	NM_002209	124	0	0	O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	CCDS32433.1																																																																																					0.607	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434508.2				T	30532938	G	T	30532938	2	4	5	1	0	0	0	0	0	0	0	1	7901	1277	45	3		3	ITGAL	16	30532938	Silent	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	536233	30532938	59821815	49	284											
RNF43	54894	mdanderson.org	37	chr17	56435856	56435856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcactgggcaagcagcaggGtgctgtgaggtggattggag	8	7	20	6	0	0	1	0	1	0	0	0	3	0	3	0	6	3	5	0	6	1	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr17:56435856G>T	ENST00000584437.1	-	8	3236	c.1281C>A	c.(1279-1281)caC>caA	p.H427Q	RNF43_ENST00000577625.1_Missense_Mutation_p.H300Q|RNF43_ENST00000583753.1_Missense_Mutation_p.H386Q|RNF43_ENST00000577716.1_Missense_Mutation_p.H427Q|RNF43_ENST00000581868.1_Missense_Mutation_p.H300Q|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.H386Q|RNF43_ENST00000407977.2_Missense_Mutation_p.H427Q			Q68DV7	RNF43_HUMAN	ring finger protein 43	427					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGCAGCAGGGTGCTGTGAGG	0.647																																					p.H427Q													.	.			0			c.C1281A												42	46	44					17																	56435856		2203	4300	6503	SO:0001583	missense	54894	exon9			AGCAGGGTGCTGT		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1281C>A	17.37:g.56435856G>T	ENSP00000463069:p.His427Gln		59	0	0		72	0.06	4	NM_017763	15	0	0	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	9.567	1.120040	0.20877	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08720	3.19;3.06	4.2	2.16	0.27623	.	0.294510	0.26241	N	0.025502	T	0.12305	0.0299	L	0.29908	0.895	0.31727	N	0.637555	D;D;P	0.69078	0.962;0.997;0.937	P;D;P	0.63793	0.764;0.918;0.585	T	0.09509	-1.0671	10	0.30854	T	0.27	-10.5688	7.315	0.26495	0.2113:0.0:0.7887:0.0	.	386;427;427	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	Q	427;386	ENSP00000385328:H427Q;ENSP00000441969:H386Q	ENSP00000385328:H427Q	H	-	3	2	RNF43	53790855	0.999000	0.42202	0.522000	0.27862	0.352000	0.29268	0.417000	0.21214	0.398000	0.25338	0.195000	0.17529	CAC			0.647	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444713.1		NM_017763		T	56435856	G	T	56435856	3	4	5	1	0	0	0	0	1	0	0	0	13518	1252	44	3	1078	3	RNF43	17	56435856	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10		56435856	24759354	50	285											
CABLES1	91768	mdanderson.org	37	chr18	20716388	20716388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagcgtgcaggtgccggCggccgcctttttgggctccg	3	10	15	13	5	1	0	1	0	0	0	2	0	2	0	4	4	3	2	4	4	1	3	rs371732182		TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr18:20716388C>T	ENST00000256925.7	+	1	662	c.662C>T	c.(661-663)gCg>gTg	p.A221V	CABLES1_ENST00000400473.2_Intron|AC105247.1_ENST00000411067.1_RNA	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	221	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGGTGCCGGCGGCCGCCTTT	0.692																																					p.A221V													.	.			0			c.C662T							C	VAL/ALA	0,3762		0,0,1881	13	17	15		662	2.6	0.5	18		15	1,8197		0,1,4098	no	missense	CABLES1	NM_001100619.2	64	0,1,5979	TT,TC,CC		0.0122,0.0,0.0084	benign	221/634	20716388	1,11959	1881	4099	5980	SO:0001583	missense	91768	exon1			TGCCGGCGGCCGC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.662C>T	18.37:g.20716388C>T	ENSP00000256925:p.Ala221Val		56	0	0		32	0.09	3	NM_001100619	13	0	0	B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858725	0.51376	0.0	1.22E-4	ENSG00000134508	ENST00000256925	T	0.49432	0.78	3.54	2.62	0.31277	.	0.785513	0.11805	N	0.527780	T	0.20941	0.0504	N	0.08118	0	0.58432	D	0.999999	P	0.39782	0.688	B	0.23018	0.043	T	0.03034	-1.1080	10	0.42905	T	0.14	-3.7384	8.6887	0.34254	0.0:0.7649:0.2351:0.0	.	221	Q8TDN4	CABL1_HUMAN	V	221	ENSP00000256925:A221V	ENSP00000256925:A221V	A	+	2	0	CABLES1	18970386	0.375000	0.25089	0.526000	0.27913	0.751000	0.42716	1.130000	0.31393	0.773000	0.33404	0.456000	0.33151	GCG			0.692	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000445198.2		NM_138375		T	20716388	C	T	20716388	3	4	5	1	0	0	0	0	1	0	0	0	2531	768	27	1	664	1	CABLES1	18	20716388	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10		20716388	57360860	51	286											
INSR	3643	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr19	7143086	7143086	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatcgccaagggacctGcgtttccgagatggcctgga	9	7	12	13	3	0	1	0	0	0	1	2	4	1	3	5	3	2	1	5	3	2	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr19:7143086G>T	ENST00000302850.5	-	12	2425	c.2283C>A	c.(2281-2283)cgC>cgA	p.R761R	INSR_ENST00000341500.5_Silent_p.R749R	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	761	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CAAGGGACCTGCGTTTCCGAG	0.527																																					p.R761R													.	.			0			c.C2283A												80	68	72					19																	7143086		2203	4300	6503	SO:0001819	synonymous_variant	3643	exon12			GGACCTGCGTTTC	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2283C>A	19.37:g.7143086G>T			99	0	0		112	0.04	5	NM_000208	28	0	0	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																					0.527	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000458544.1				T	7143086	G	T	7143086	2	4	5	1	0	0	0	0	0	0	0	1	7788	1306	46	2		2	INSR	19	7143086	Silent	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10		7143086	51985897	52	287											
ANKLE1	126549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17396520	17396520	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccaaggtgcgtcagAtcttggacatctgggccagt	7	9	12	13	1	3	1	1	0	2	1	3	2	3	2	4	3	2	0	4	3	1	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr19:17396520A>C	ENST00000394458.3	+	8	1843	c.1567A>C	c.(1567-1569)Atc>Ctc	p.I523L	ANKLE1_ENST00000594072.1_Missense_Mutation_p.I486L|ANKLE1_ENST00000598347.1_Intron|ANKLE1_ENST00000404085.1_Missense_Mutation_p.I519L|ANKLE1_ENST00000433424.2_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	523	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGTGCGTCAGATCTTGGACAT	0.612																																					p.I523L													FLJ39369,NS,carcinoma,-2,1	FLJ39369	-2	1	0			c.A1567C												115	94	101					19																	17396520		2203	4300	6503	SO:0001583	missense	126549	exon8			CGTCAGATCTTGG	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.1567A>C	19.37:g.17396520A>C	ENSP00000377971:p.Ile523Leu		72	0	0		90	0.29	26	NM_152363	5	0.8	4	A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326604	0.81690	.	.	ENSG00000160117	ENST00000404261;ENST00000404085;ENST00000394458	D	0.85484	-1.99	5.19	5.19	0.71726	.	0.127745	0.50627	D	0.000120	D	0.92896	0.7740	M	0.89353	3.025	0.80722	D	1	P;B;D	0.76494	0.913;0.441;0.999	P;B;D	0.76071	0.636;0.138;0.987	D	0.93940	0.7222	10	0.72032	D	0.01	.	12.9894	0.58610	1.0:0.0:0.0:0.0	.	483;523;486	Q8NAG6-1;Q8NAG6;A0JLW0	.;ANKL1_HUMAN;.	L	523;519;486	ENSP00000384008:I519L	ENSP00000377971:I486L	I	+	1	0	ANKLE1	17257520	1.000000	0.71417	0.707000	0.30419	0.617000	0.37484	8.371000	0.90123	1.961000	0.56991	0.402000	0.26972	ATC			0.612	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325392.2		NM_152363		C	17396520	A	C	17396520	3	2	5	1	0	0	0	0	1	0	0	0	632	333	12	4	1597	4	ANKLE1	19	17396520	Missense_Mutation	SNP	A	TCGA-2G-AAF6-01A-11D-A42Y-10	10253434	17396520	41732463	53	288											
LOC729991-MEF2B	100271849	mdanderson.org	37	chr19	19256659	19256659	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagggcgggcccaggccGcagaggctctgccagggacc	6	2	18	15	3	1	1	0	0	1	1	1	2	1	2	4	5	1	3	4	5	0	0			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr19:19256659G>T	ENST00000602424.2	-	10	1668	c.942C>A	c.(940-942)tgC>tgA	p.C314*	MEF2B_ENST00000409224.1_3'UTR|MEF2B_ENST00000410050.1_Silent_p.R359R|MEF2B_ENST00000162023.5_Silent_p.R352R|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2BNB-MEF2B_ENST00000514819.3_Nonsense_Mutation_p.C331*|MEF2B_ENST00000409447.2_Silent_p.R270R|MEF2BNB-MEF2B_ENST00000444486.3_Nonsense_Mutation_p.C314*|MEF2B_ENST00000424583.2_Silent_p.R352R	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	314					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)			GGCCCAGGCCGCAGAGGCTCT	0.731																																					p.C314X													.	.			0			c.C942A												2	3	3					19																	19256659		1736	3551	5287	SO:0001587	stop_gained	4207	exon10			CAGGCCGCAGAGG	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.942C>A	19.37:g.19256659G>T	ENSP00000473308:p.Cys314*		30	0	0		37	0.08	3	NM_005919	4	0	0	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Nonsense_Mutation	SNP	ENST00000602424.2	37	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	G	42	9.714687	0.99245	.	.	ENSG00000213999	ENST00000444486	.	.	.	3.86	-1.17	0.09648	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.0934	0.06301	0.3357:0.0:0.475:0.1894	.	.	.	.	X	314	.	ENSP00000390762:C314X	C	-	3	2	MEF2B	19117659	0.228000	0.23718	0.000000	0.03702	0.860000	0.49131	0.672000	0.25187	0.015000	0.14971	0.313000	0.20887	TGC			0.731	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_005919		T	19256659	G	T	19256659	4	4	5	1	0	0	0	0	0	1	0	0	8905	1088	38	1	159	1	LOC729991-MEF2B	19	19256659	Nonsense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	1860139	19256659	39872324	54	289											
GRAMD1A	57655	broad.mit.edu	37	chr19	35510143	35510143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagtgccaccagcgccGggtgctgacgtacaccatcc	9	5	11	16	3	0	1	0	1	0	0	1	1	1	1	5	1	5	3	5	1	2	1	rs538898774		TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr19:35510143G>T	ENST00000317991.5	+	12	1454	c.1262G>T	c.(1261-1263)cGg>cTg	p.R421L	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R414L|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R508L|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.R187L	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	421						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)			CACCAGCGCCGGGTGCTGACG	0.672													G|||	1	0.000199681	0	0	5008	,	,		14552	0.001		0	False		,,,				2504	0				p.R421L													.	GRAMD1A	39		0			c.G1262T												40	48	45					19																	35510143		2140	4251	6391	SO:0001583	missense	57655	exon12			AGCGCCGGGTGCT	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.1262G>T	19.37:g.35510143G>T	ENSP00000441032:p.Arg421Leu		102	0	0		109	0.03	3	NM_020895	578	0	0	A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661880	0.88251	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.75477	-0.94;-0.09;-0.04	4.62	4.62	0.57501	.	0.077118	0.51477	N	0.000100	D	0.87018	0.6073	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;D;D;D	0.97110	0.999;0.982;0.998;1.0	D	0.89214	0.3566	10	0.87932	D	0	.	14.9985	0.71451	0.0:0.0:1.0:0.0	.	421;421;187;414	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	L	507;187;421;414	ENSP00000423728:R187L;ENSP00000441032:R421L;ENSP00000439267:R414L	ENSP00000441032:R421L	R	+	2	0	GRAMD1A	40201983	0.998000	0.40836	0.981000	0.43875	0.881000	0.50899	8.823000	0.92018	2.388000	0.81334	0.491000	0.48974	CGG			0.672	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000461557.1		NM_020895		T	35510143	G	T	35510143	3	4	5	1	0	0	0	0	1	0	0	0	6762	1116	39	1	1308	1	GRAMD1A	19	35510143	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	16253484	35510143	23618840	55	290											
SNRPB	6628	hgsc.bcm.edu;mdanderson.org	37	chr20	2442419	2442419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctagggccttggtgggcGcattcccgggggagggggcc	4	7	20	10	2	1	0	0	0	1	0	2	1	2	1	3	7	0	1	3	7	1	3			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr20:2442419G>A	ENST00000438552.2	-	7	868	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SNRPB_ENST00000381342.2_3'UTR|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	236	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CTTGGTGGGCGCATTCCCGGG	0.547																																					p.R236C													SNRPB,NS,carcinoma,+1,1	SNRPB	1	1	0			c.C706T												48	51	50					20																	2442419		2203	4300	6503	SO:0001583	missense	6628	exon7			GTGGGCGCATTCC		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.706C>T	20.37:g.2442419G>A	ENSP00000412566:p.Arg236Cys		84	0	0		92	0.04	4	NM_198216	3376	0	3	Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066100	0.36470	.	.	ENSG00000125835	ENST00000438552;ENST00000303103	T	0.45668	0.89	4.7	3.74	0.42951	.	0.298090	0.36338	N	0.002646	T	0.12263	0.0298	N	0.01874	-0.695	0.80722	D	1	P	0.50710	0.938	B	0.22753	0.041	T	0.16512	-1.0400	10	0.87932	D	0	.	10.0794	0.42379	0.1001:0.0:0.8999:0.0	.	236	P14678	RSMB_HUMAN	C	236;284	ENSP00000412566:R236C	ENSP00000303591:R284C	R	-	1	0	SNRPB	2390419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.037000	0.41174	1.315000	0.45114	0.561000	0.74099	CGC			0.547	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000077585.2				A	2442419	G	A	2442419	3	1	5	1	0	0	0	0	1	0	0	0	14884	1087	38	1	20	1	SNRPB	20	2442419	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10		2442419	60583101	56	291											
C22orf43	51233	broad.mit.edu	37	chr22	23974156	23974156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcataacagggtgcgtcctTccccctgggccagccacagt	7	9	10	15	1	1	0	1	0	0	0	3	0	3	0	5	2	3	0	5	2	1	3			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr22:23974156T>C	ENST00000317749.5	-	1	352	c.55A>G	c.(55-57)Aag>Gag	p.K19E	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		19										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GGTGCGTCCTTCCCCCTGGGC	0.532																																					p.K19E													.	C22orf43	18		0			c.A55G												93	95	95					22																	23974156		1965	4139	6104	SO:0001583	missense	51233	exon1			CGTCCTTCCCCCT																												ENST00000317749.5:c.55A>G	22.37:g.23974156T>C	ENSP00000316137:p.Lys19Glu		159	0.0188679245	3		233	0.03	8	NM_016449	0		0	Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	t	6.700	0.497794	0.12762	.	.	ENSG00000189269	ENST00000317749	T	0.32515	1.45	0.14	-0.28	0.12886	.	.	.	.	.	T	0.30324	0.0761	L	0.34521	1.04	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.20306	-1.0279	8	0.51188	T	0.08	.	.	.	.	.	19	Q6PGQ1	CV043_HUMAN	E	19	ENSP00000316137:K19E	ENSP00000316137:K19E	K	-	1	0	C22orf43	22304156	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.944000	0.03913	-1.393000	0.02079	-1.425000	0.01104	AAG			0.532	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319708.2				C	23974156	T	C	23974156	3	2	5	1	0	0	0	0	1	0	0	0	2152	1792	62	4	682	4	C22orf43	22	23974156	Missense_Mutation	SNP	T	TCGA-2G-AAF6-01A-11D-A42Y-10		23974156	27330410	57	292											
TCF20	6942	broad.mit.edu	37	chr22	42608228	42608228	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattcatgtgatgagggtcTccccctgggcctctgctccg	4	11	13	13	1	3	2	1	2	2	0	5	3	4	3	4	3	1	1	4	3	0	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr22:42608228T>C	ENST00000359486.3	-	1	3220	c.3084A>G	c.(3082-3084)ggA>ggG	p.G1028G	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.G1028G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1028					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						GATGAGGGTCTCCCCCTGGGC	0.527																																					p.G1028G													.	TCF20	164		0			c.A3084G												60	61	61					22																	42608228		2203	4300	6503	SO:0001819	synonymous_variant	6942	exon1			AGGGTCTCCCCCT	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.3084A>G	22.37:g.42608228T>C			85	0	0		95	0.04	4	NM_181492	109	0	0	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																					0.527	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320531.1		NM_181492		C	42608228	T	C	42608228	2	2	5	1	0	0	0	0	0	0	0	1	15713	1538	54	4		4	TCF20	22	42608228	Silent	SNP	T	TCGA-2G-AAF6-01A-11D-A42Y-10	18634072	42608228	8696338	58	293											
PLXNB2	23654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	50728449	50728449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccctgctgtcagtccggtCcaacagccgagtgctcacga	7	8	10	16	3	2	0	2	0	0	0	5	2	5	0	4	1	4	2	4	1	1	0			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chr22:50728449C>A	ENST00000449103.1	-	3	705	c.565G>T	c.(565-567)Gac>Tac	p.D189Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D189Y			O15031	PLXB2_HUMAN	plexin B2	189	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)		TCAGTCCGGTCCAACAGCCGA	0.622																																					p.D189Y													.	.			0			c.G565T												90	97	94					22																	50728449		2192	4282	6474	SO:0001583	missense	23654	exon3			TCCGGTCCAACAG		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.565G>T	22.37:g.50728449C>A	ENSP00000409171:p.Asp189Tyr		130	0	0		189	0.17	32	NM_012401	154	0.18	28	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	5.792	0.330456	0.10956	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.10860	2.83;2.83;2.83	4.51	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.210279	0.33144	N	0.005231	T	0.10594	0.0259	L	0.60845	1.875	0.36773	D	0.883925	B	0.30511	0.282	B	0.39299	0.296	T	0.13737	-1.0498	10	0.02654	T	1	.	4.5448	0.12076	0.213:0.5735:0.1297:0.0837	.	189	O15031	PLXB2_HUMAN	Y	189	ENSP00000409171:D189Y;ENSP00000352288:D189Y;ENSP00000392620:D189Y	ENSP00000352288:D189Y	D	-	1	0	PLXNB2	49070576	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	2.603000	0.46266	1.111000	0.41721	0.462000	0.41574	GAC			0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316874.3		NM_012401		A	50728449	C	A	50728449	3	1	5	1	0	0	0	0	1	0	0	0	12141	855	30	3	5091	3	PLXNB2	22	50728449	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10	8120221	50728449	576117	59	294											
FAM123B	139285	mdanderson.org	37	chrX	63410102	63410102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtaggtgtgagggaCgagctagttgaggcccagat	9	8	18	6	1	0	3	0	2	0	1	0	5	0	4	1	4	1	4	1	4	2	3			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chrX:63410102C>T	ENST00000330258.3	-	2	3337	c.3065G>A	c.(3064-3066)cGt>cAt	p.R1022H	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1022	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GTGTGAGGGACGAGCTAGTTG	0.567																																					p.R1022H													.	.			67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.G3065A												51	57	55					X																	63410102		2119	4214	6333	SO:0001583	missense	139285	exon2			GAGGGACGAGCTA	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3065G>A	X.37:g.63410102C>T	ENSP00000329117:p.Arg1022His		61	0	0		76	0.05	4	NM_152424	19	0	0	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304721	0.40795	.	.	ENSG00000184675	ENST00000330258	T	0.59772	0.24	4.93	4.07	0.47477	.	.	.	.	.	T	0.40015	0.1100	L	0.27053	0.805	0.80722	D	1	B	0.25272	0.122	B	0.18263	0.021	T	0.16660	-1.0395	8	.	.	.	-6.5728	9.5686	0.39414	0.0:0.8994:0.0:0.1006	.	1022	Q5JTC6	F123B_HUMAN	H	1022	ENSP00000329117:R1022H	.	R	-	2	0	FAM123B	63326827	0.023000	0.18921	0.723000	0.30687	0.152000	0.21847	1.247000	0.32815	1.210000	0.43336	0.529000	0.55759	CGT			0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316584.1		NM_152424		T	63410102	C	T	63410102	3	4	5	1	0	0	0	0	1	0	0	0	5433	536	19	1	346	1	FAM123B	23	63410102	Missense_Mutation	SNP	C	TCGA-2G-AAF6-01A-11D-A42Y-10		63410102	91860458	60	295											
SRPK3	26576	mdanderson.org	37	chrX	153046776	153046776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgacgacgaggaacaGgaagaccccaaagactactg	14	3	12	12	3	0	2	0	0	0	2	1	7	1	4	3	3	2	1	3	3	4	1			TCGA-2G-AAF6-01A-11D-A42Y-10	TCGA-2G-AAF6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a7112f-6a25-40c7-9e6a-c9bf107e05a4	9a637380-4a84-4cfc-8a4c-4a61515e9229	g.chrX:153046776G>T	ENST00000370101.3	+	2	211	c.165G>T	c.(163-165)caG>caT	p.Q55H	SRPK3_ENST00000370104.1_Missense_Mutation_p.Q55H|SRPK3_ENST00000370100.1_Missense_Mutation_p.Q13H|SRPK3_ENST00000489426.1_Missense_Mutation_p.Q122H|SRPK3_ENST00000393786.3_Missense_Mutation_p.Q55H|SRPK3_ENST00000370108.3_Missense_Mutation_p.Q55H	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	55					cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					ACGAGGAACAGGAAGACCCCA	0.672																																					p.Q55H	Esophageal Squamous(167;766 3400 32156)												.	.			0			c.G165T												31	32	31					X																	153046776		2199	4293	6492	SO:0001583	missense	26576	exon2			GGAACAGGAAGAC	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.165G>T	X.37:g.153046776G>T	ENSP00000359119:p.Gln55His		136	0	0		127	0.04	5	NM_001170761	0		0	Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	ENST00000370101.3	37	CCDS35441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.78|17.78	3.472500|3.472500	0.63737|0.63737	.|.	.|.	ENSG00000184343|ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100|ENST00000430541	T;T;T;T;T;T|.	0.58940|.	0.3;0.42;0.39;0.43;0.39;0.41|.	4.21|4.21	4.21|4.21	0.49690|0.49690	.|.	0.000000|.	0.49916|.	D|.	0.000140|.	T|T	0.74786|0.74786	0.3762|0.3762	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.71674|.	0.993;0.997;0.998;0.996;0.988|.	D;D;D;P;D|.	0.87578|.	0.963;0.993;0.998;0.859;0.945|.	T|T	0.77332|0.77332	-0.2627|-0.2627	10|5	0.87932|.	D|.	0|.	-27.5527|-27.5527	13.035|13.035	0.58864|0.58864	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	13;55;55;55;122|.	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6|.	.;.;.;SRPK3_HUMAN;.|.	H|M	122;55;55;55;55;13|69	ENSP00000420058:Q122H;ENSP00000377376:Q55H;ENSP00000359122:Q55H;ENSP00000359126:Q55H;ENSP00000359119:Q55H;ENSP00000359118:Q13H|.	ENSP00000359118:Q13H|.	Q|R	+|+	3|2	2|0	SRPK3|SRPK3	152699970|152699970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.456000|0.456000	0.32438|0.32438	3.795000|3.795000	0.55499|0.55499	1.928000|1.928000	0.55862|0.55862	0.529000|0.529000	0.55759|0.55759	CAG|AGG			0.672	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000354501.1		NM_014370		T	153046776	G	T	153046776	3	4	5	1	0	0	0	0	1	0	0	0	15184	991	35	3	171	3	SRPK3	23	153046776	Missense_Mutation	SNP	G	TCGA-2G-AAF6-01A-11D-A42Y-10	89636674	153046776	2223784	61	296											
C1orf86	199990	broad.mit.edu	37	chr1	2116938	2116938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggacacaggtgggggCgggagttgaagtacctgtgg	8	6	20	7	2	0	1	0	1	0	0	0	3	0	3	1	6	2	2	1	6	2	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:2116938C>T	ENST00000400919.3	-	8	1291	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000536678.1_RNA|RP11-181G12.2_ENST00000444529.1_RNA	NM_001282671.1	NP_001269600.1	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	73					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGGTGGGGGCGGGAGTTGAA	0.577																																					p.A158T													.	C1orf86	20		0			c.G472A												53	48	49					1																	2116938		692	1591	2283	SO:0001583	missense	199990	exon8			TGGGGGCGGGAGT	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000400919.3:c.223G>A	1.37:g.2116938C>T	ENSP00000383710:p.Ala75Thr		235	0	0		172	0.03	5	NM_001146310	9	0	0	A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000400919.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.276413|1.276413	0.23307|0.23307	.|.	.|.	ENSG00000162585|ENSG00000162585	ENST00000400919|ENST00000400918	.|T	.|0.49432	.|0.78	3.92|3.92	3.0|3.0	0.34707|0.34707	.|.	.|.	.|.	.|.	.|.	T|T	0.30759|0.30759	0.0775|0.0775	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999988|0.999988	P|.	0.37997|.	0.614|.	B|.	0.30646|.	0.118|.	T|T	0.25745|0.25745	-1.0123|-1.0123	8|7	0.87932|0.87932	D|D	0|0	.|.	8.9876|8.9876	0.36003|0.36003	0.0:0.8945:0.0:0.1055|0.0:0.8945:0.0:0.1055	.|.	158|.	Q6ZRT9|.	.|.	T|H	75|162	.|ENSP00000383709:R162H	ENSP00000383710:A75T|ENSP00000383709:R162H	A|R	-|-	1|2	0|0	C1orf86|C1orf86	2106798|2106798	0.236000|0.236000	0.23804|0.23804	0.001000|0.001000	0.08648|0.08648	0.036000|0.036000	0.12997|0.12997	0.407000|0.407000	0.21049|0.21049	0.744000|0.744000	0.32741|0.32741	0.561000|0.561000	0.74099|0.74099	GCC|CGC			0.577	C1orf86-202	KNOWN	basic	protein_coding	protein_coding				NM_182533		T	2116938	C	T	2116938	3	4	6	1	0	0	0	0	1	0	0	0	2065	768	27	1	224	1	C1orf86	1	2116938	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10		2116938	247133683	1	297											
CLCNKA	1187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	16358965	16358965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaggacatcttggccaggGgctgccccacggaaccagtg	8	6	13	14	1	1	0	0	0	1	0	2	2	2	2	5	5	2	1	5	5	1	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:16358965G>T	ENST00000331433.4	+	18	1892	c.1873G>T	c.(1873-1875)Ggc>Tgc	p.G625C	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G624C|CLCNKA_ENST00000375692.1_Missense_Mutation_p.G624C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G582C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	625					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTTGGCCAGGGGCTGCCCCAC	0.622											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G625C													.	.			0			c.G1873T												110	110	110					1																	16358965		2203	4300	6503	SO:0001583	missense	1187	exon18			GCCAGGGGCTGCC		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1873G>T	1.37:g.16358965G>T	ENSP00000332771:p.Gly625Cys		202	0	0	709	122	0.16	20	NM_004070	1	0	0	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574296	0.28092	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	3.02	3.02	0.34903	.	0.261457	0.37715	N	0.001965	D	0.90428	0.7003	M	0.65320	2	0.36598	D	0.874506	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.66084	0.941;0.941;0.941	D	0.92097	0.5685	10	0.54805	T	0.06	.	11.1707	0.48569	0.0:0.0:1.0:0.0	.	582;624;625	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	C	624;624;582;625	ENSP00000364844:G624C;ENSP00000410353:G624C;ENSP00000414445:G582C;ENSP00000332771:G625C	ENSP00000332771:G625C	G	+	1	0	CLCNKA	16231552	0.804000	0.28969	0.331000	0.25455	0.013000	0.08279	1.299000	0.33424	1.674000	0.50907	0.313000	0.20887	GGC			0.622	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000026326.1				T	16358965	G	T	16358965	3	4	6	1	0	0	0	0	1	0	0	0	3471	1232	43	3	1939	3	CLCNKA	1	16358965	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	14242027	16358965	232891656	2	298											
NCSTN	23385	ucsc.edu	37	chr1	160319987	160319987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttggcttatgaagactttAgtttccccatctttcttctt	6	20	6	9	0	3	2	0	1	3	1	4	2	4	2	2	1	0	3	2	1	3	8			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:160319987A>G	ENST00000294785.5	+	5	654	c.529A>G	c.(529-531)Agt>Ggt	p.S177G	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.S157G|NCSTN_ENST00000535857.1_Missense_Mutation_p.S177G|NCSTN_ENST00000368063.1_Missense_Mutation_p.S157G|NCSTN_ENST00000368065.4_5'UTR	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	177					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAAGACTTTAGTTTCCCCAT	0.423																																					p.S177G													.	NCSTN	64		0			c.A529G												184	190	188					1																	160319987		2203	4300	6503	SO:0001583	missense	23385	exon5			GACTTTAGTTTCC	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.529A>G	1.37:g.160319987A>G	ENSP00000294785:p.Ser177Gly		105	0	0		149	0.01	1	NM_015331	209	0.26	54	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.377556	0.24944	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	D;D;T;T;T;D	0.82433	-1.61;-1.61;-0.08;-0.07;-0.1;-1.61	4.86	3.71	0.42584	.	0.169550	0.50627	D	0.000120	T	0.52092	0.1713	L	0.34521	1.04	0.80722	D	1	B;B;B	0.33171	0.4;0.004;0.001	B;B;B	0.28011	0.085;0.004;0.001	T	0.54463	-0.8290	10	0.16896	T	0.51	-9.7228	4.778	0.13189	0.8303:0.0:0.1697:0.0	.	177;157;177	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	G	177;157;177;177;210;157	ENSP00000294785:S177G;ENSP00000357042:S157G;ENSP00000390409:S177G;ENSP00000442605:S177G;ENSP00000389370:S210G;ENSP00000376047:S157G	ENSP00000294785:S177G	S	+	1	0	NCSTN	158586611	0.161000	0.22892	0.995000	0.50966	0.995000	0.86356	0.587000	0.23909	2.043000	0.60533	0.533000	0.62120	AGT			0.423	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080622.1		NM_015331		G	160319987	A	G	160319987	3	3	6	1	0	0	0	0	1	0	0	0	10258	420	15	4	547	4	NCSTN	1	160319987	Missense_Mutation	SNP	A	TCGA-2G-AAF8-01A-11D-A42Y-10	143961022	160319987	88930634	3	299											
NFASC	23114	hgsc.bcm.edu;broad.mit.edu	37	chr1	204939861	204939861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtccagtggatggtgaatgGggaacctttgcaatgtaagt	10	12	14	5	0	0	1	0	1	0	0	1	3	1	3	2	4	2	2	2	4	4	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:204939861G>T	ENST00000401399.1	+	10	1320	c.1121G>T	c.(1120-1122)gGg>gTg	p.G374V	NFASC_ENST00000539706.1_Missense_Mutation_p.G385V|NFASC_ENST00000339876.6_Missense_Mutation_p.G374V|NFASC_ENST00000360049.4_Missense_Mutation_p.G385V|NFASC_ENST00000338515.6_Missense_Mutation_p.G374V|NFASC_ENST00000404907.1_Missense_Mutation_p.G385V|NFASC_ENST00000367170.4_Missense_Mutation_p.G374V|NFASC_ENST00000404076.1_Missense_Mutation_p.G368V|NFASC_ENST00000338586.6_Missense_Mutation_p.G374V|NFASC_ENST00000513543.1_Missense_Mutation_p.G385V|NFASC_ENST00000367169.4_Missense_Mutation_p.G374V|NFASC_ENST00000367172.4_Missense_Mutation_p.G374V|NFASC_ENST00000403080.1_Missense_Mutation_p.G374V|NFASC_ENST00000367171.4_Missense_Mutation_p.G374V			O94856	NFASC_HUMAN	neurofascin	374	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATGGTGAATGGGGAACCTTTG	0.532																																					p.G385V													.	.			0			c.G1154T												130	106	114					1																	204939861		2203	4300	6503	SO:0001583	missense	23114	exon11			TGAATGGGGAACC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1121G>T	1.37:g.204939861G>T	ENSP00000385637:p.Gly374Val		116	0	0		96	0.04	4	NM_015090	0		0	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.954047|4.954047	0.92660|0.92660	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.56941|0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43|0.43	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|0.000000	0.53938|0.53938	D|D	0.000044|0.000044	D|D	0.83422|0.83422	0.5251|0.5251	H|H	0.97564|0.97564	4.03|4.03	0.80722|0.80722	D|D	1|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;0.999;1.0;1.0;0.998;1.0;1.0|.	D|D	0.89056|0.89056	0.3459|0.3459	10|8	0.87932|0.87932	D|D	0|0	.|.	19.2963|19.2963	0.94124|0.94124	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	385;385;470;374;374;385;374|.	O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.;.|.	V|W	374;374;374;374;374;374;385;385;385;374;374;368;374;385;385;361|344	ENSP00000356140:G374V;ENSP00000356139:G374V;ENSP00000356138:G374V;ENSP00000342128:G374V;ENSP00000344786:G374V;ENSP00000343509:G374V;ENSP00000438614:G385V;ENSP00000353154:G385V;ENSP00000356137:G374V;ENSP00000384875:G374V;ENSP00000385676:G368V;ENSP00000385637:G374V;ENSP00000384061:G385V;ENSP00000425908:G385V;ENSP00000415031:G361V|ENSP00000356141:G344W	ENSP00000295776:G385V|ENSP00000356141:G344W	G|G	+|+	2|1	0|0	NFASC|NFASC	203206484|203206484	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.757000|9.757000	0.98924|0.98924	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GGG|GGG			0.532	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000131237.1		NM_001005388		T	204939861	G	T	204939861	3	4	6	1	0	0	0	0	1	0	0	0	10376	1232	43	3	1210	3	NFASC	1	204939861	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	44619874	204939861	44310760	4	300											
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr1	228468319	228468319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgaagtctctgacccCgaggcccatgtggtgtggcg	6	9	15	11	2	1	2	0	2	1	0	2	3	1	2	3	3	0	0	3	3	1	0	rs186845111	byFrequency	TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr1:228468319C>T	ENST00000422127.1	+	30	8063	c.8019C>T	c.(8017-8019)ccC>ccT	p.P2673P	OBSCN_ENST00000359599.6_Silent_p.P1520P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.P3102P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.P2673P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2673	Ig-like 26.				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)				TCTCTGACCCCGAGGCCCATG	0.657																																					p.P3102P													.	.			0			c.C9306T												59	68	65					1																	228468319		2164	4278	6442	SO:0001819	synonymous_variant	84033	exon35			TGACCCCGAGGCC	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.8019C>T	1.37:g.228468319C>T			61	0	0		45	0.09	4	NM_001271223	2	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																					0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		T	228468319	C	T	228468319	2	4	6	1	0	0	0	0	0	0	0	1	10829	639	23	1		1	OBSCN	1	228468319	Silent	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	23528458	228468319	20782302	5	301											
TAF1B	9014	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	10059215	10059215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctactactcatttgtcgaCaaaccagtagcatataaaaa	16	11	4	10	1	2	0	1	0	1	0	3	1	2	0	1	0	4	2	1	0	8	6			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:10059215C>T	ENST00000263663.5	+	13	1505	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	TAF1B_ENST00000396242.3_Silent_p.D184D	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	439					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|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)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATTTGTCGACAAACCAGTAG	0.363																																					p.D439D													.	.			0			c.C1317T												104	105	105					2																	10059215		2203	4300	6503	SO:0001819	synonymous_variant	9014	exon13			TGTCGACAAACCA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1317C>T	2.37:g.10059215C>T			74	0	0		85	0.11	9	NM_005680	69	0.22	15	B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	CCDS33143.1																																																																																					0.363	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323426.2		NM_005680		T	10059215	C	T	10059215	2	4	6	1	0	0	0	0	0	0	0	1	15543	477	17	3		3	TAF1B	2	10059215	Silent	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10		10059215	233140158	6	302											
NPAS2	4862	mdanderson.org	37	chr2	101598761	101598761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcggacgcggatcctgcaGgccaatatccggtggcaaca	10	5	13	13	4	0	0	0	0	0	0	2	2	2	2	3	5	3	2	3	5	3	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:101598761G>T	ENST00000335681.5	+	16	1836	c.1551G>T	c.(1549-1551)caG>caT	p.Q517H	NPAS2_ENST00000542504.1_Missense_Mutation_p.Q582H	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	517					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						GGATCCTGCAGGCCAATATCC	0.562																																					p.Q517H													.	.			0			c.G1551T												76	69	71					2																	101598761		2203	4300	6503	SO:0001583	missense	4862	exon16			CCTGCAGGCCAAT	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.1551G>T	2.37:g.101598761G>T	ENSP00000338283:p.Gln517His		42	0	0		42	0.07	3	NM_002518	4	0	0	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.33|19.33	3.807666|3.807666	0.70797|0.70797	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000433408|ENST00000335681;ENST00000542504;ENST00000450763	.|T;T;T	.|0.46819	.|2.95;2.9;0.86	5.56|5.56	1.28|1.28	0.21552|0.21552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62527|0.62527	0.2435|0.2435	M|M	0.72894|0.72894	2.215|2.215	0.49798|0.49798	D|D	0.999821|0.999821	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.79784	.|0.993;0.957;0.984	T|T	0.62124|0.62124	-0.6920|-0.6920	5|10	.|0.87932	.|D	.|0	.|.	9.5125|9.5125	0.39085|0.39085	0.3918:0.0:0.6082:0.0|0.3918:0.0:0.6082:0.0	.|.	.|582;517;517	.|F5H027;A0PJF9;Q99743	.|.;.;NPAS2_HUMAN	C|H	16|517;582;116	.|ENSP00000338283:Q517H;ENSP00000438428:Q582H;ENSP00000392125:Q116H	.|ENSP00000338283:Q517H	G|Q	+|+	1|3	0|2	NPAS2|NPAS2	100965193|100965193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.671000|0.671000	0.25172|0.25172	0.182000|0.182000	0.20032|0.20032	0.655000|0.655000	0.94253|0.94253	GGC|CAG			0.562	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000253168.3				T	101598761	G	T	101598761	3	4	6	1	0	0	0	0	1	0	0	0	10580	991	35	3	1609	3	NPAS2	2	101598761	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	91539546	101598761	141600612	7	303											
SMPD4	55627	mdanderson.org	37	chr2	130910946	130910946	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacccacgatgcagtcGgggagttgcttttttccatt	6	14	9	12	2	1	0	1	0	0	0	4	2	3	1	3	2	2	3	3	2	0	5			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:130910946G>T	ENST00000409031.1	-	18	3236	c.2088C>A	c.(2086-2088)ccC>ccA	p.P696P	SMPD4_ENST00000443958.2_Silent_p.P360P|SMPD4_ENST00000452225.2_Silent_p.P437P|SMPD4_ENST00000453750.1_Silent_p.P445P|SMPD4_ENST00000431183.2_Silent_p.P594P|SMPD4_ENST00000351288.6_Silent_p.P667P|SMPD4_ENST00000339679.7_Silent_p.P554P|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000426662.2_Silent_p.P332P	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	657					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CGATGCAGTCGGGGAGTTGCT	0.627																																					p.P696P													.	.			0			c.C2088A												80	67	71					2																	130910946		2203	4300	6503	SO:0001819	synonymous_variant	55627	exon18			GCAGTCGGGGAGT	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2088C>A	2.37:g.130910946G>T			88	0	0		47	0.06	3	NM_017951	191	0	0	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	9.779	1.174894	0.21704	.	.	ENSG00000136699	ENST00000439886	.	.	.	4.09	-4.04	0.04010	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46414	-0.9193	6	0.87932	D	0	.	0.2287	0.00177	0.2885:0.2182:0.2692:0.2241	.	.	.	.	Q	571	.	ENSP00000401648:P571Q	P	-	2	0	SMPD4	130627416	0.086000	0.21541	0.997000	0.53966	0.788000	0.44548	-0.951000	0.03885	-0.217000	0.10033	-0.424000	0.05967	CCG			0.627	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254516.3		NM_017751		T	130910946	G	T	130910946	2	4	6	1	0	0	0	0	0	0	0	1	14830	1103	39	1		1	SMPD4	2	130910946	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	29312185	130910946	112288427	8	304											
CSRNP3	80034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	166532964	166532964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaacaaaaaaacgaagagCtctgctgcgtgcctctggag	13	6	11	11	2	2	1	0	0	2	1	2	3	2	2	2	1	6	2	2	1	5	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:166532964C>A	ENST00000342316.4	+	4	823	c.551C>A	c.(550-552)gCt>gAt	p.A184D	CSRNP3_ENST00000409420.1_Missense_Mutation_p.A216D|CSRNP3_ENST00000314499.7_Missense_Mutation_p.A184D	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	184					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						AAACGAAGAGCTCTGCTGCGT	0.488																																					p.A184D													.	.			0			c.C551A												167	170	169					2																	166532964		2203	4300	6503	SO:0001583	missense	80034	exon6			GAAGAGCTCTGCT	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.551C>A	2.37:g.166532964C>A	ENSP00000344042:p.Ala184Asp		114	0	0		113	0.19	21	NM_001172173	1	0	0	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428490	0.96131	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.12243	-1.0555	10	0.62326	D	0.03	-16.7587	19.3504	0.94381	0.0:1.0:0.0:0.0	.	184	Q8WYN3	CSRN3_HUMAN	D	184;191;184;184;216	ENSP00000412081:A184D;ENSP00000318258:A184D;ENSP00000344042:A184D;ENSP00000387195:A216D	ENSP00000318258:A184D	A	+	2	0	CSRNP3	166241210	1.000000	0.71417	0.958000	0.39756	0.984000	0.73092	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GCT			0.488	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255191.2		NM_024969		A	166532964	C	A	166532964	3	1	6	1	0	0	0	0	1	0	0	0	3967	797	28	2	561	2	CSRNP3	2	166532964	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	35622018	166532964	76666409	9	305											
CASP8	841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	202137405	202137405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagaagagggtcatcctGggagaaggaaagttggacat	14	7	16	4	0	1	3	1	0	0	3	2	7	2	5	1	5	0	1	1	5	3	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr2:202137405G>A	ENST00000432109.2	+	5	645	c.456G>A	c.(454-456)ctG>ctA	p.L152L	CASP8_ENST00000392266.3_Silent_p.L152L|CASP8_ENST00000323492.7_Silent_p.L152L|CASP8_ENST00000358485.4_Silent_p.L211L|CASP8_ENST00000264274.9_Silent_p.L152L|CASP8_ENST00000392259.2_Silent_p.L152L|CASP8_ENST00000264275.5_Silent_p.L184L|CASP8_ENST00000392258.3_Silent_p.L152L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	152	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.L184L(2)|p.L211L(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGGTCATCCTGGGAGAAGGAA	0.423										HNSCC(4;0.00038)																											p.L211L	Melanoma(82;831 1348 20716 36952 40159)												.	.			3	Substitution - coding silent(3)	lung(3)	c.G633A												143	147	145					2																	202137405		2203	4300	6503	SO:0001819	synonymous_variant	841	exon4			CATCCTGGGAGAA	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.456G>A	2.37:g.202137405G>A			89	0	0		79	0.16	13	NM_001080125	53	0.23	12	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	ENST00000432109.2	37	CCDS2342.1																																																																																					0.423	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000336853.2		NM_001228		A	202137405	G	A	202137405	2	1	6	1	0	0	0	0	0	0	0	1	2679	1335	47	3		3	CASP8	2	202137405	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	35604441	202137405	41061968	10	306											
OGG1	4968	mdanderson.org	37	chr3	9792839	9792839	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcaccactggggttccgtGgactcccacttccaagaggt	8	10	10	13	1	1	1	1	0	0	1	4	2	4	2	4	4	0	1	4	4	2	3	rs370483342		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:9792839G>T	ENST00000344629.7	+	2	691	c.348G>T	c.(346-348)gtG>gtT	p.V116V	OGG1_ENST00000302003.7_Silent_p.V116V|OGG1_ENST00000383826.5_Silent_p.V116V|OGG1_ENST00000449570.2_Silent_p.V116V|OGG1_ENST00000339511.5_Silent_p.V116V|OGG1_ENST00000302036.7_Silent_p.V116V|OGG1_ENST00000302008.8_Silent_p.V116V|OGG1_ENST00000349503.5_Silent_p.V116V			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	116					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GGGGTTCCGTGGACTCCCACT	0.557								Base excision repair (BER), DNA glycosylases																													p.V116V													.	.			0			c.G348T												69	60	63					3																	9792839		2203	4300	6503	SO:0001819	synonymous_variant	4968	exon2			TTCCGTGGACTCC	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.348G>T	3.37:g.9792839G>T			160	0	0		113	0.04	5	NM_016821	42	0	0	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.03|10.03	1.237768|1.237768	0.22711|0.22711	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000352937|ENST00000426518	.|.	.|.	.|.	5.54|5.54	0.365|0.365	0.16131|0.16131	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42131	.|0.1189	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26258	.|-1.0108	.|4	.|.	.|.	.|.	-4.8451|-4.8451	1.6847|1.6847	0.02839|0.02839	0.3575:0.219:0.3131:0.1104|0.3575:0.219:0.3131:0.1104	.|.	.|.	.|.	.|.	X|L	22|26	.|.	.|.	G|W	+|+	1|2	0|0	OGG1|OGG1	9767839|9767839	0.995000|0.995000	0.38212|0.38212	0.551000|0.551000	0.28230|0.28230	0.992000|0.992000	0.81027|0.81027	0.414000|0.414000	0.21164|0.21164	0.288000|0.288000	0.22398|0.22398	0.655000|0.655000	0.94253|0.94253	GGA|TGG			0.557	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214223.2		NM_016821		T	9792839	G	T	9792839	2	4	6	1	0	0	0	0	0	0	0	1	10862	1335	47	3		3	OGG1	3	9792839	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		9792839	188229591	11	307											
RASSF1	11334	mdanderson.org	37	chr3	50368037	50368037	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagggggcaggcgtgcaggGcctcttggatcttctggcgg	5	8	18	10	2	3	0	0	0	3	0	3	1	3	1	1	7	1	2	1	7	1	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:50368037G>T	ENST00000232496.4	-	0	0				RASSF1_ENST00000395126.3_Missense_Mutation_p.A182D|RASSF1_ENST00000327761.3_Missense_Mutation_p.A263D|RASSF1_ENST00000359365.4_Missense_Mutation_p.A333D|RASSF1_ENST00000357043.2_Missense_Mutation_p.A337D|TUSC2_ENST00000462137.1_5'Flank	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)		GGCGTGCAGGGCCTCTTGGAT	0.607																																					p.A337D													.	.			0			c.C1010A												97	95	95					3																	50368037		2203	4300	6503	SO:0001631	upstream_gene_variant	11186	exon6			TGCAGGGCCTCTT	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.50368037G>T	Exception_encountered		54	0.0185185185	1		32	0.09	3	NM_170714	69	0	0	B2R4Y9	Missense_Mutation	SNP	ENST00000232496.4	37	CCDS2819.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875849	0.91664	.	.	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.78707	2.58;2.15;-1.2;-1.2	5.49	5.49	0.81192	SARAH (1);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.992;0.999;0.957	D	0.88946	0.3383	10	0.54805	T	0.06	-27.1132	18.3174	0.90226	0.0:0.0:1.0:0.0	.	333;337;263	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	D	263;182;337;333	ENSP00000333327:A263D;ENSP00000378558:A182D;ENSP00000349547:A337D;ENSP00000352323:A333D	ENSP00000333327:A263D	A	-	2	0	RASSF1	50343041	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.602000	0.98312	2.735000	0.93741	0.563000	0.77884	GCC			0.607	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346399.1		NM_007275		T	50368037	G	T	50368037	1	4	6	0	1	0	0	0	0	0	0	0	13107	1203	42	2		2	RASSF1	3	50368037	5'Flank	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	40575198	50368037	147654393	12	308											
FHIT	2272	mdanderson.org	37	chr3	59908140	59908140	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaacatggacgtgaacgtGctgaaaatgtacaagaaaga	19	6	11	5	2	0	5	0	2	0	3	0	6	0	6	0	1	4	2	0	1	8	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:59908140G>T	ENST00000468189.1	-	8	650	c.280C>A	c.(280-282)Cac>Aac	p.H94N	FHIT_ENST00000476844.1_Splice_Site_p.H94N|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000341848.4_Splice_Site_p.H94N|FHIT_ENST00000492590.1_Splice_Site_p.H94N			P49789	FHIT_HUMAN	fragile histidine triad	94	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		ACGTGAACGTGCTGAAAATGT	0.418			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																												p.H94N				Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	.	.			0			c.C280A												115	102	106					3																	59908140		2203	4300	6503	SO:0001630	splice_region_variant	2272	exon8	Familial Cancer Database		GAACGTGCTGAAA	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"fragile histidine triad gene"			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.280-1C>A	3.37:g.59908140G>T			64	0	0		53	0.06	3	NM_002012	0		0	A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862845	0.71949	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.6	5.6	0.85130	Histidine triad, conserved site (1);Histidine triad motif (1);Histidine triad-like motif (1);	0.105306	0.64402	D	0.000006	D	0.98359	0.9455	H	0.99169	4.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99651	1.0991	9	.	.	.	-7.945	17.3989	0.87454	0.0:0.0:1.0:0.0	.	94	P49789	FHIT_HUMAN	N	94	ENSP00000418582:H94N;ENSP00000417557:H94N;ENSP00000417480:H94N;ENSP00000342087:H94N	.	H	-	1	0	FHIT	59883180	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.390000	0.79816	2.648000	0.89879	0.655000	0.94253	CAC			0.418	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351648.1		NM_002012	Missense_Mutation	T	59908140	G	T	59908140	5	4	6	1	0	0	0	0	0	0	1	0	5890	1333	46	2	171	2	FHIT	3	59908140	Splice_Site	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	9540103	59908140	138114290	13	309											
GTF2E1	2960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	120469513	120469513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggccttggacatcttgatCaggaactcctgtgtgaaaga	10	12	11	8	0	2	3	1	2	1	1	3	5	3	5	2	3	1	0	2	3	2	3			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:120469513C>G	ENST00000283875.5	+	2	207	c.114C>G	c.(112-114)atC>atG	p.I38M		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	38	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACATCTTGATCAGGAACTCCT	0.448																																					p.I38M													.	.			0			c.C114G												123	109	113					3																	120469513		2203	4300	6503	SO:0001583	missense	2960	exon2			CTTGATCAGGAAC	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.114C>G	3.37:g.120469513C>G	ENSP00000283875:p.Ile38Met		140	0	0		113	0.12	13	NM_005513	48	0.27	13	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275946	0.59649	.	.	ENSG00000153767	ENST00000484715;ENST00000283875;ENST00000492959	T	0.49139	0.79	5.76	2.92	0.33932	TFIIEalpha/SarR/Rpc3 HTH domain (1);Transcription factor TFE/TFIIEalpha HTH domain (1);	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	L	0.43152	1.355	0.58432	D	0.999999	P;P	0.47191	0.891;0.891	P;P	0.54664	0.758;0.688	T	0.41840	-0.9486	10	0.51188	T	0.08	-25.1083	9.0042	0.36102	0.0:0.7494:0.0:0.2506	.	38;38	P29083;Q53F88	T2EA_HUMAN;.	M	38	ENSP00000283875:I38M	ENSP00000283875:I38M	I	+	3	3	GTF2E1	121952203	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.027000	0.41078	0.299000	0.22661	-0.145000	0.13849	ATC			0.448	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356770.1		NM_005513		G	120469513	C	G	120469513	3	3	6	1	0	0	0	0	1	0	0	0	6871	816	29	5	116	5	GTF2E1	3	120469513	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	60561373	120469513	77552917	14	310											
FBXO40	51725	mdanderson.org	37	chr3	121340831	121340831	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggtaccacatggtctGtcagcaactaatggggagat	10	11	13	7	0	2	1	1	0	1	1	2	2	2	1	1	5	3	3	1	5	3	3			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:121340831G>T	ENST00000338040.4	+	3	969	c.555G>T	c.(553-555)ctG>ctT	p.L185L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	185					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CACATGGTCTGTCAGCAACTA	0.517																																					p.L185L													.	.			0			c.G555T												126	135	132					3																	121340831		2203	4300	6503	SO:0001819	synonymous_variant	51725	exon3			TGGTCTGTCAGCA	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.555G>T	3.37:g.121340831G>T			94	0	0		75	0.05	4	NM_016298	0		0	B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	CCDS33835.1																																																																																					0.517	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355158.1		NM_016298		T	121340831	G	T	121340831	2	4	6	1	0	0	0	0	0	0	0	1	5762	1364	48	3		3	FBXO40	3	121340831	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	871318	121340831	76681599	15	311											
ACAD9	28976	mdanderson.org	37	chr3	128623311	128623311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggatgctggaccaacctgGctttcccgactgctccatcg	7	9	11	14	2	0	0	0	0	0	0	3	3	2	2	4	3	3	3	4	3	1	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:128623311G>T	ENST00000308982.7	+	11	1193	c.1112G>T	c.(1111-1113)gGc>gTc	p.G371V	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	371						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GACCAACCTGGCTTTCCCGAC	0.547																																					p.G371V													.	.			0			c.G1112T												67	60	62					3																	128623311		2203	4300	6503	SO:0001583	missense	28976	exon11			AACCTGGCTTTCC	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1112G>T	3.37:g.128623311G>T	ENSP00000312618:p.Gly371Val		53	0	0		49	0.06	3	NM_014049	42	0	0	D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135383	0.77662	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.97378	-4.36	5.7	4.83	0.62350	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.137638	0.64402	D	0.000003	D	0.98704	0.9565	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.962;0.999	D	0.99391	1.0925	10	0.87932	D	0	.	12.444	0.55641	0.081:0.0:0.919:0.0	.	248;371	Q9H9W4;Q9H845	.;ACAD9_HUMAN	V	371;238	ENSP00000312618:G371V	ENSP00000312618:G371V	G	+	2	0	ACAD9	130106001	1.000000	0.71417	0.086000	0.20670	0.922000	0.55478	5.783000	0.68982	1.418000	0.47098	0.655000	0.94253	GGC			0.547	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358405.1		NM_014049		T	128623311	G	T	128623311	3	4	6	1	0	0	0	0	1	0	0	0	111	1203	42	2	1154	2	ACAD9	3	128623311	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	7282480	128623311	69399119	16	312											
HES1	3280	broad.mit.edu;bcgsc.ca	37	chr3	193854208	193854208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaaattcctcgtccccGgtggctgctaccccagccag	9	7	10	15	2	0	1	0	0	0	1	3	2	2	1	6	2	3	2	6	2	3	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr3:193854208G>A	ENST00000232424.3	+	1	275	c.39G>A	c.(37-39)ccG>ccA	p.P13P		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CCTCGTCCCCGGTGGCTGCTA	0.428																																					p.P13P													.	HES1	23		0			c.G39A												38	38	38					3																	193854208		2203	4300	6503	SO:0001819	synonymous_variant	3280	exon1			GTCCCCGGTGGCT	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.39G>A	3.37:g.193854208G>A			293	0.0034129693	1		207	0.07	15	NM_005524	7	0	0	A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000232424.3	37	CCDS3305.1																																																																																					0.428	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342632.1				A	193854208	G	A	193854208	2	1	6	1	0	0	0	0	0	0	0	1	7080	1103	39	1		1	HES1	3	193854208	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	65230897	193854208	4168222	17	313											
AFAP1	60312	mdanderson.org	37	chr4	7787938	7787938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccgagccgttgatgcacgGgacatcgtcataatgaagtg	11	8	12	10	4	1	2	1	2	0	0	2	4	1	3	2	1	2	2	2	1	2	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr4:7787938G>T	ENST00000360265.4	-	11	1747	c.1513C>A	c.(1513-1515)Ccg>Acg	p.P505T	AFAP1_ENST00000382543.3_Missense_Mutation_p.P505T|AFAP1_ENST00000358461.2_Missense_Mutation_p.P505T|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000420658.1_Missense_Mutation_p.P505T			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	505						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTGATGCACGGGACATCGTCA	0.512																																					p.P505T													.	.			0			c.C1513A												104	100	101					4																	7787938		2203	4300	6503	SO:0001583	missense	60312	exon12			TGCACGGGACATC	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1513C>A	4.37:g.7787938G>T	ENSP00000353402:p.Pro505Thr		64	0	0		47	0.06	3	NM_001134647	23	0	0	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875383	0.72180	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.16457	2.38;2.34;2.38;2.34	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.78801	2.425	0.53688	D	0.999977	D;D	0.89917	1.0;0.972	D;P	0.69142	0.962;0.796	T	0.43327	-0.9398	10	0.59425	D	0.04	-38.9222	18.916	0.92506	0.0:0.0:1.0:0.0	.	505;505	E9PDT7;Q8N556	.;AFAP1_HUMAN	T	505	ENSP00000353402:P505T;ENSP00000410689:P505T;ENSP00000351245:P505T;ENSP00000371983:P505T	ENSP00000351245:P505T	P	-	1	0	AFAP1	7838838	1.000000	0.71417	0.997000	0.53966	0.736000	0.42039	6.896000	0.75665	2.462000	0.83206	0.650000	0.86243	CCG			0.512	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246842.2		NM_021638		T	7787938	G	T	7787938	3	4	6	1	0	0	0	0	1	0	0	0	353	1232	43	3	959	3	AFAP1	4	7787938	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		7787938	183366338	18	314											
SHROOM3	57619	mdanderson.org	37	chr4	77676329	77676329	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggacagtgaggatcccGaggggccacgccccaggtga	9	4	16	12	2	0	2	0	2	0	0	1	5	1	4	4	5	1	1	4	5	0	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr4:77676329G>T	ENST00000296043.6	+	7	5646	c.4693G>T	c.(4693-4695)Gag>Tag	p.E1565*	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1565					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)			TGAGGATCCCGAGGGGCCACG	0.622																																					p.E1565X													.	.			0			c.G4693T												34	35	35					4																	77676329		2203	4300	6503	SO:0001587	stop_gained	57619	exon7			GATCCCGAGGGGC	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.4693G>T	4.37:g.77676329G>T	ENSP00000296043:p.Glu1565*		60	0	0		52	0.06	3	NM_020859	21	0	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	48	14.285333	0.99788	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	.	.	.	5.11	-1.73	0.08081	.	3.953870	0.00397	N	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	3.401	2.831	0.05499	0.1793:0.2552:0.4442:0.1214	.	.	.	.	X	1565;42	.	ENSP00000264907:E42X	E	+	1	0	SHROOM3	77895353	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.632000	0.05553	-0.175000	0.13238	GAG			0.622	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252408.2		NM_020859		T	77676329	G	T	77676329	4	4	6	1	0	0	0	0	0	1	0	0	14318	1059	37	1	4719	1	SHROOM3	4	77676329	Nonsense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	69888391	77676329	113477947	19	315											
INPP4B	8821	mdanderson.org	37	chr4	143129612	143129612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtacctgcattctttgCagatgtagatttattggaac	9	16	9	7	0	1	2	0	0	1	2	1	3	1	3	1	1	4	4	1	1	4	7			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr4:143129612C>T	ENST00000513000.1	-	15	1471	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	INPP4B_ENST00000262992.4_Silent_p.L346L|INPP4B_ENST00000509777.1_Silent_p.L346L|INPP4B_ENST00000308502.4_Silent_p.L346L|INPP4B_ENST00000508116.1_Silent_p.L346L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	346					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCATTCTTTGCAGATGTAGAT	0.333																																					p.L346L													.	.			0			c.G1038A												108	108	108					4																	143129612		2203	4300	6503	SO:0001819	synonymous_variant	8821	exon15			TCTTTGCAGATGT	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1038G>A	4.37:g.143129612C>T			61	0	0		46	0.07	3	NM_003866	4	0	0	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	CCDS3757.1																																																																																					0.333	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364587.1		NM_003866		T	143129612	C	T	143129612	2	4	6	1	0	0	0	0	0	0	0	1	7768	697	25	2		2	INPP4B	4	143129612	Silent	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	65453283	143129612	48024664	20	316											
HCN1	348980	broad.mit.edu	37	chr5	45353277	45353277	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtatctgtgttcataGtaatcatgtatcttctgacg	8	17	8	8	1	5	1	2	1	3	0	5	1	5	1	1	1	0	4	1	1	4	7			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:45353277G>T	ENST00000303230.4	-	5	1359	c.1302C>A	c.(1300-1302)taC>taA	p.Y434*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	434					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						TGTGTTCATAGTAATCATGTA	0.343																																					p.Y434X													HCN1,NS,carcinoma,0,1	HCN1	298	1	0			c.C1302A												156	142	147					5																	45353277		2203	4297	6500	SO:0001587	stop_gained	348980	exon5			TTCATAGTAATCA	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.1302C>A	5.37:g.45353277G>T	ENSP00000307342:p.Tyr434*		91	0	0		59	0.05	3	NM_021072	0		0		Nonsense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746862	0.96882	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.97	0.155	0.14906	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8576	0.46808	0.5211:0.0:0.4789:0.0	.	.	.	.	X	434	.	ENSP00000307342:Y434X	Y	-	3	2	HCN1	45389034	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	0.593000	0.23999	-0.270000	0.09285	-0.768000	0.03414	TAC			0.343	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253847.1		NM_021072		T	45353277	G	T	45353277	4	4	6	1	0	0	0	0	0	1	0	0	7011	1024	36	3	1386	3	HCN1	5	45353277	Nonsense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		45353277	135561983	21	317											
ATP6AP1L	92270	mdanderson.org	37	chr5	81614037	81614037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgaaagctcgagacacagCcgaagagaaggagctgctga	14	4	14	9	2	0	4	0	2	0	2	1	8	0	5	1	1	4	4	1	1	3	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:81614037C>T	ENST00000380167.4	+	10	1918	c.593C>T	c.(592-594)gCc>gTc	p.A198V	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.A198V			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	198					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CGAGACACAGCCGAAGAGAAG	0.532																																					p.A198V													.	.			0			c.C593T												56	62	60					5																	81614037		2203	4300	6503	SO:0001583	missense	92270	exon4			ACACAGCCGAAGA	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.593C>T	5.37:g.81614037C>T	ENSP00000369513:p.Ala198Val		62	0	0		31	0.13	4	NM_001017971	9	0	0		Missense_Mutation	SNP	ENST00000380167.4	37	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653030	0.14580	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.54	4.57	0.56435	.	0.406531	0.24688	N	0.036415	T	0.44932	0.1317	M	0.68317	2.08	0.09310	N	1	B	0.27700	0.186	B	0.32465	0.146	T	0.47275	-0.9130	9	0.51188	T	0.08	.	5.4761	0.16695	0.1255:0.4045:0.393:0.077	.	198	Q52LC2	VAS1L_HUMAN	V	198	.	ENSP00000369513:A198V	A	+	2	0	ATP6AP1L	81649793	0.012000	0.17670	0.002000	0.10522	0.003000	0.03518	1.779000	0.38624	1.054000	0.40438	0.563000	0.77884	GCC			0.532	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369562.3		NM_001017971		T	81614037	C	T	81614037	3	4	6	1	0	0	0	0	1	0	0	0	1166	739	26	2	607	2	ATP6AP1L	5	81614037	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	36260760	81614037	99301223	22	318											
BRD8	10902	mdanderson.org	37	chr5	137502367	137502367	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaagcaagaggtgtGgtgaactgtgtaggaccagc	12	7	17	5	0	0	3	0	2	0	1	0	5	0	5	1	4	3	2	1	4	5	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:137502367G>T	ENST00000254900.5	-	10	1208	c.837C>A	c.(835-837)acC>acA	p.T279T	BRD8_ENST00000230901.5_Silent_p.T352T|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000402931.1_Silent_p.T279T|BRD8_ENST00000455658.2_Silent_p.T238T|BRD8_ENST00000411594.2_Intron	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	279					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)			CAAGAGGTGTGGTGAACTGTG	0.458																																					p.T352T													.	.			0			c.C1056A												70	60	63					5																	137502367		2203	4300	6503	SO:0001819	synonymous_variant	10902	exon11			AGGTGTGGTGAAC	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.837C>A	5.37:g.137502367G>T			79	0	0		45	0.07	3	NM_006696	66	0	0	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	CCDS4198.1																																																																																					0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251282.3		NM_006696		T	137502367	G	T	137502367	2	4	6	1	0	0	0	0	0	0	0	1	1508	1335	47	3		3	BRD8	5	137502367	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	55888330	137502367	43412893	23	319											
PCDHB13	56123	mdanderson.org	37	chr5	140595252	140595252	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcgccctcaggtctctGgactacgaggccctgcaggg	5	9	13	14	2	2	0	1	0	1	0	4	2	2	1	2	4	2	2	2	4	1	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:140595252G>T	ENST00000341948.4	+	1	1744	c.1557G>T	c.(1555-1557)ctG>ctT	p.L519L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	519	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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGGTCTCTGGACTACGAGG	0.692																																					p.L519L													PCDHB13,NS,carcinoma,+1,1	PCDHB13	1	1	0			c.G1557T												86	93	91					5																	140595252		2203	4300	6503	SO:0001819	synonymous_variant	56123	exon1			GTCTCTGGACTAC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1557G>T	5.37:g.140595252G>T			48	0	0		38	0.08	3	NM_018933	0		0	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																					0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251810.1		NM_018933		T	140595252	G	T	140595252	2	4	6	1	0	0	0	0	0	0	0	1	11555	1335	47	3		3	PCDHB13	5	140595252	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	3092885	140595252	40320008	24	320											
SCGB3A2	117156	mdanderson.org	37	chr5	147261032	147261032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcctcatcaacaaaGtgccccttcctgttgacaag	9	11	6	15	0	2	1	2	1	0	0	4	1	4	1	5	0	3	1	5	0	3	3			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:147261032G>T	ENST00000296694.4	+	2	172	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	SCGB3A2_ENST00000504320.1_5'UTR|SCGB3A2_ENST00000514688.1_3'UTR|C5orf46_ENST00000510432.1_Intron	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	27						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAACAAAGTGCCCCTTCC	0.473																																					p.V27L													.	.			0			c.G79T												189	186	187					5																	147261032		2203	4300	6503	SO:0001583	missense	117156	exon2			AACAAAGTGCCCC	AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"Secretoglobins"	18391	protein-coding gene	gene with protein product	"uteroglobin-related protein 1", "pneumo secretory protein 1", "uteroglobin related protein 1"	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.79G>T	5.37:g.147261032G>T	ENSP00000296694:p.Val27Leu		91	0	0		45	0.07	3	NM_054023	295	0	0		Missense_Mutation	SNP	ENST00000296694.4	37	CCDS4287.1	.	.	.	.	.	.	.	.	.	.	G	1.133	-0.651875	0.03506	.	.	ENSG00000164265	ENST00000296694	.	.	.	5.26	-10.5	0.00291	.	2.002980	0.02635	N	0.104764	T	0.31544	0.0800	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11446	-1.0587	8	0.30078	T	0.28	1.0E-4	14.6582	0.68850	0.0:0.1374:0.7295:0.1331	.	27	Q96PL1	SG3A2_HUMAN	L	27	.	ENSP00000296694:V27L	V	+	1	0	SCGB3A2	147241225	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.061000	0.03472	-1.907000	0.01087	-0.410000	0.06199	GTG			0.473	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251939.1		NM_054023		T	147261032	G	T	147261032	3	4	6	1	0	0	0	0	1	0	0	0	13924	1029	36	3	85	3	SCGB3A2	5	147261032	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	6665780	147261032	33654228	25	321											
HAVCR2	84868	ucsc.edu;bcgsc.ca	37	chr5	156535962	156535962	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagtagcagcagcagcagCaggacacagtcaaagggaag	16	3	14	8	0	1	0	1	0	0	0	1	2	1	2	0	2	5	7	0	2	4	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr5:156535962C>G	ENST00000307851.4	-	1	763	c.33G>C	c.(31-33)ctG>ctC	p.L11L	HAVCR2_ENST00000522593.1_Silent_p.L11L|HAVCR2_ENST00000517358.1_5'Flank|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	11						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGCAGCAGCAGGACACAGT	0.458																																					p.L11L													.	HAVCR2	56		0			c.G33C												132	119	124					5																	156535962		2203	4300	6503	SO:0001819	synonymous_variant	84868	exon1			CAGCAGCAGGACA	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"Immunoglobulin superfamily / V-set domain containing"	18437	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 3"	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.33G>C	5.37:g.156535962C>G			80	0	0		39	0.1	4	NM_032782	8	0	0	B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	CCDS4333.1																																																																																					0.458	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252574.2				G	156535962	C	G	156535962	2	3	6	1	0	0	0	0	0	0	0	1	6989	697	25	5		5	HAVCR2	5	156535962	Silent	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	9274930	156535962	24379298	26	322											
BAT3	7917	mdanderson.org	37	chr6	31610631	31610631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtcagtcatgccttggAgaaaggcagggacaccaggc	13	5	14	9	0	2	2	2	0	0	2	2	4	2	3	2	4	1	1	2	4	2	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr6:31610631A>G	ENST00000375964.6	-	14	2241	c.1928T>C	c.(1927-1929)cTc>cCc	p.L643P	BAG6_ENST00000362049.6_Missense_Mutation_p.L637P|BAG6_ENST00000404765.2_Missense_Mutation_p.L673P|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375976.4_Missense_Mutation_p.L637P|BAG6_ENST00000211379.5_Missense_Mutation_p.L637P|BAG6_ENST00000470875.1_5'UTR	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	643	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CATGCCTTGGAGAAAGGCAGG	0.612																																					p.L643P													.	.			0			c.T1928C												35	28	30					6																	31610631		2203	4300	6503	SO:0001583	missense	7917	exon14			CCTTGGAGAAAGG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1928T>C	6.37:g.31610631A>G	ENSP00000365131:p.Leu643Pro		27	0	0		19	0.11	2	NM_004639	106	0	0	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096240	0.76870	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000362049;ENST00000437771;ENST00000438149	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.59	5.59	0.84812	.	0.236976	0.35555	N	0.003126	T	0.51261	0.1664	L	0.29908	0.895	0.80722	D	1	P;D;D	0.71674	0.946;0.998;0.997	P;D;D	0.80764	0.648;0.991;0.994	T	0.53746	-0.8395	10	0.39692	T	0.17	.	14.7844	0.69790	1.0:0.0:0.0:0.0	.	637;643;637	F8VXY4;P46379;P46379-2	.;BAG6_HUMAN;.	P	637;643;637;673;637;673;231	ENSP00000365143:L637P;ENSP00000365131:L643P;ENSP00000211379:L637P;ENSP00000384494:L673P;ENSP00000354875:L637P;ENSP00000397978:L673P;ENSP00000410280:L231P	ENSP00000211379:L637P	L	-	2	0	BAG6	31718610	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.702000	0.84576	2.138000	0.66242	0.456000	0.33151	CTC			0.612	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_080703		G	31610631	A	G	31610631	3	3	6	1	0	0	0	0	1	0	0	0	1322	304	11	4	1518	4	BAT3	6	31610631	Missense_Mutation	SNP	A	TCGA-2G-AAF8-01A-11D-A42Y-10		31610631	139504436	27	323											
ZBTB9	221504	mdanderson.org	37	chr6	33423539	33423539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggaggaggaagatgAtgatgatgaggaccaggggt	14	5	20	2	0	0	6	0	4	0	2	0	11	0	11	1	7	0	0	1	7	1	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr6:33423539A>G	ENST00000395064.2	+	2	930	c.662A>G	c.(661-663)gAt>gGt	p.D221G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	221					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						gaggaagatgatgatgatgag	0.577																																					p.D221G													.	.			0			c.A662G												63	61	62					6																	33423539		2203	4300	6503	SO:0001583	missense	221504	exon2			AAGATGATGATGA	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.662A>G	6.37:g.33423539A>G	ENSP00000378503:p.Asp221Gly		70	0	0		37	0.08	3	NM_152735	37	0	0	A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	A	7.723	0.697668	0.15106	.	.	ENSG00000213588	ENST00000395064	T	0.08282	3.11	4.53	3.32	0.38043	.	1.336890	0.05524	U	0.562627	T	0.01800	0.0057	N	0.14661	0.345	0.31192	N	0.700804	B	0.02656	0.0	B	0.04013	0.001	T	0.38735	-0.9647	10	0.21014	T	0.42	.	8.5059	0.33186	0.9024:0.0:0.0976:0.0	.	221	Q96C00	ZBTB9_HUMAN	G	221	ENSP00000378503:D221G	ENSP00000378503:D221G	D	+	2	0	ZBTB9	33531517	0.969000	0.33509	0.834000	0.33040	0.438000	0.31896	2.374000	0.44274	1.892000	0.54788	0.460000	0.39030	GAT			0.577	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276533.1		NM_152735		G	33423539	A	G	33423539	3	3	6	1	0	0	0	0	1	0	0	0	17581	333	12	4	664	4	ZBTB9	6	33423539	Missense_Mutation	SNP	A	TCGA-2G-AAF8-01A-11D-A42Y-10	1812908	33423539	137691528	28	324											
MDN1	23195	mdanderson.org	37	chr6	90385226	90385226	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcgtggtcagggagcgccGctgtcggacgagcatcttca	7	7	16	11	5	3	0	2	0	1	0	4	4	3	2	1	3	3	2	1	3	0	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr6:90385226G>T	ENST00000369393.3	-	78	12833	c.12718C>A	c.(12718-12720)Cgg>Agg	p.R4240R	MDN1_ENST00000428876.1_Silent_p.R4240R|MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4240					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)		AGGGAGCGCCGCTGTCGGACG	0.517																																					p.R4240R													.	.			0			c.C12718A												118	90	99					6																	90385226		2203	4300	6503	SO:0001819	synonymous_variant	23195	exon78			AGCGCCGCTGTCG	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.12718C>A	6.37:g.90385226G>T			49	0	0		33	0.09	3	NM_014611	50	0	0	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																					0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041514.2				T	90385226	G	T	90385226	2	4	6	1	0	0	0	0	0	0	0	1	9431	1086	38	1		1	MDN1	6	90385226	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	56961687	90385226	80729841	29	325											
SEC63	11231	mdanderson.org	37	chr6	108224139	108224139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgctgaagtccctgaacgGccatctgagaaagcttcatg	11	10	10	10	1	2	3	1	3	1	1	3	4	3	3	2	1	3	2	2	1	3	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr6:108224139G>T	ENST00000369002.4	-	12	1297	c.1118C>A	c.(1117-1119)gCc>gAc	p.A373D		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	373	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)		TCCCTGAACGGCCATCTGAGA	0.433																																					p.A373D													.	.			0			c.C1118A												60	65	63					6																	108224139		2203	4297	6500	SO:0001583	missense	11231	exon12			TGAACGGCCATCT	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.1118C>A	6.37:g.108224139G>T	ENSP00000357998:p.Ala373Asp		87	0	0		80	0.05	4	NM_007214	165	0	0	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913832	0.52439	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.60171	0.21	5.2	5.2	0.72013	Sec63 domain (3);	0.336250	0.32386	N	0.006173	T	0.23094	0.0558	N	0.08118	0	0.30916	N	0.728585	B;B	0.27286	0.05;0.174	B;B	0.27380	0.079;0.062	T	0.26395	-1.0104	10	0.87932	D	0	-10.4388	13.0936	0.59178	0.0772:0.0:0.9228:0.0	.	373;373	Q9UGP8;B3KQF0	SEC63_HUMAN;.	D	373;24;233	ENSP00000357998:A373D	ENSP00000357998:A373D	A	-	2	0	SEC63	108330832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.251000	0.58778	2.417000	0.82017	0.563000	0.77884	GCC			0.433	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041705.4		NM_007214		T	108224139	G	T	108224139	3	4	6	1	0	0	0	0	1	0	0	0	14028	1203	42	2	1204	2	SEC63	6	108224139	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	17838913	108224139	62890928	30	326											
GLI3	2737	broad.mit.edu	37	chr7	42063136	42063136	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtttgtctcatagatGacttcaggctcctgtttgct	6	16	10	9	0	2	2	2	1	1	1	4	2	3	2	1	2	1	5	1	2	1	4			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:42063136G>T	ENST00000395925.3	-	10	1512	c.1428C>A	c.(1426-1428)gtC>gtA	p.V476V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	476					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTCATAGATGACTTCAGGCT	0.537									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.V476V													.	GLI3	312		0			c.C1428A												171	129	143					7																	42063136		2203	4300	6503	SO:0001819	synonymous_variant	2737	exon10	Familial Cancer Database	;	ATAGATGACTTCA		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1428C>A	7.37:g.42063136G>T			179	0	0		161	0.03	5	NM_000168	2	0	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																					0.537	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250806.3		NM_000168		T	42063136	G	T	42063136	2	4	6	1	0	0	0	0	0	0	0	1	6453	1277	45	3		3	GLI3	7	42063136	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		42063136	117075527	31	327											
SRRT	51593	mdanderson.org	37	chr7	100481800	100481800	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcatggagactggctggTttgataaccttctcctggac	7	12	10	12	0	2	2	1	1	1	1	3	4	2	3	3	4	1	2	3	4	1	3	rs201173432		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:100481800T>G	ENST00000347433.4	+	6	855	c.697T>G	c.(697-699)Ttt>Gtt	p.F233V	SRRT_ENST00000432932.1_Missense_Mutation_p.F233V|SRRT_ENST00000457580.2_Missense_Mutation_p.F233V|SRRT_ENST00000388793.4_Missense_Mutation_p.F233V			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	233					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						GACTGGCTGGTTTGATAACCT	0.582																																					p.F233V													.	.			0			c.T697G												75	80	78					7																	100481800		2203	4300	6503	SO:0001583	missense	51593	exon6			GGCTGGTTTGATA		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.697T>G	7.37:g.100481800T>G	ENSP00000314491:p.Phe233Val		91	0.1208791209	11		80	0.16	13	NM_001128853	183	0.12	22	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.281085	0.40394	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.41710	1.295	0.58432	D	0.999997	B;B;B;B	0.33345	0.356;0.356;0.356;0.409	B;B;B;B	0.34489	0.115;0.115;0.115;0.184	T	0.46803	-0.9165	9	0.42905	T	0.14	.	9.2961	0.37815	0.0:0.0:0.0:1.0	.	233;233;233;233	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	V	233	.	ENSP00000314491:F233V	F	+	1	0	SRRT	100319736	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.549000	0.60726	1.781000	0.52344	0.260000	0.18958	TTT			0.582	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347168.1		NM_015908		G	100481800	T	G	100481800	3	3	6	1	0	0	0	0	1	0	0	0	15195	1725	60	4	715	4	SRRT	7	100481800	Missense_Mutation	SNP	T	TCGA-2G-AAF8-01A-11D-A42Y-10	58418664	100481800	58656863	32	328											
SND1	27044	mdanderson.org	37	chr7	127631040	127631040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgaaacctcccaggcttGgtgcaggaaggagagccctt	9	6	13	13	1	0	1	0	0	0	1	1	4	1	2	4	4	3	2	4	4	2	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:127631040G>T	ENST00000354725.3	+	16	1904	c.1710G>T	c.(1708-1710)ttG>ttT	p.L570F	SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	570	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TCCCAGGCTTGGTGCAGGAAG	0.527																																					p.L570F													.	.			0			c.G1710T												92	76	81					7																	127631040		2203	4300	6503	SO:0001583	missense	27044	exon16			AGGCTTGGTGCAG		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1710G>T	7.37:g.127631040G>T	ENSP00000346762:p.Leu570Phe		55	0	0		44	0.07	3	NM_014390	471	0	1	Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839154	0.32513	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T	0.30714	1.52	5.54	3.71	0.42584	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.330064	0.20211	N	0.096890	T	0.18002	0.0432	N	0.08118	0	0.38410	D	0.945902	B	0.23490	0.086	B	0.35114	0.196	T	0.09487	-1.0672	10	0.56958	D	0.05	-0.4877	5.6033	0.17365	0.1643:0.0:0.6768:0.1589	.	570	Q7KZF4	SND1_HUMAN	F	570;560;119	ENSP00000346762:L570F	ENSP00000346762:L570F	L	+	3	2	SND1	127418276	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	1.992000	0.40737	0.786000	0.33708	0.655000	0.94253	TTG			0.527	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349148.1		NM_014390		T	127631040	G	T	127631040	3	4	6	1	0	0	0	0	1	0	0	0	14867	1339	47	3	1772	3	SND1	7	127631040	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	27149240	127631040	31507623	33	329											
TMEM213	155006	mdanderson.org	37	chr7	138487805	138487805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgagcccaaggacttGcaagcgtgagacccaggctc	11	5	12	13	1	0	3	0	2	0	2	1	5	0	4	3	2	3	2	3	2	2	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:138487805G>T	ENST00000442682.2	+	3	468	c.315G>T	c.(313-315)ttG>ttT	p.L105F	TMEM213_ENST00000422794.2_Missense_Mutation_p.L155F|TMEM213_ENST00000458494.1_Missense_Mutation_p.L81F|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000397602.3_Missense_Mutation_p.L104F	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	105						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CCAAGGACTTGCAAGCGTGAG	0.527																																					p.L105F													.	.			0			c.G315T												28	33	31					7																	138487805		2180	4280	6460	SO:0001583	missense	155006	exon3			GGACTTGCAAGCG		CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.315G>T	7.37:g.138487805G>T	ENSP00000390407:p.Leu105Phe		21	0	0		22	0.09	2	NM_001085429	0		0	A4D1R3|C9JH49|C9JX41|C9K0P0	Missense_Mutation	SNP	ENST00000442682.2	37	CCDS47722.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018517	0.35606	.	.	ENSG00000214128	ENST00000422794;ENST00000397602;ENST00000442682;ENST00000458494	.	.	.	5.55	2.63	0.31362	.	0.000000	0.28683	U	0.014498	T	0.30355	0.0762	L	0.36672	1.1	0.09310	N	1	P;P	0.50369	0.934;0.934	P;P	0.46940	0.532;0.532	T	0.09885	-1.0654	9	0.62326	D	0.03	-9.7213	6.902	0.24288	0.1542:0.0:0.7031:0.1427	.	104;105	A2RRL7-3;A2RRL7	.;TM213_HUMAN	F	155;104;105;81	.	ENSP00000380727:L104F	L	+	3	2	TMEM213	138138345	0.015000	0.18098	0.209000	0.23619	0.024000	0.10985	0.483000	0.22292	1.345000	0.45676	0.650000	0.86243	TTG			0.527	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347800.2		NM_001085429		T	138487805	G	T	138487805	3	4	6	1	0	0	0	0	1	0	0	0	16159	1310	46	2	325	2	TMEM213	7	138487805	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	10856765	138487805	20650858	34	330											
ADCK2	90956	mdanderson.org	37	chr7	140373183	140373183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctgtcgcacctgaggtGcttcgagctcagacagggac	7	9	13	12	2	1	2	1	1	0	1	3	4	1	3	2	2	3	3	2	2	0	2	rs151015312		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr7:140373183G>T	ENST00000072869.4	+	1	231	c.53G>T	c.(52-54)tGc>tTc	p.C18F	ADCK2_ENST00000476491.1_Missense_Mutation_p.C18F	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	18						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)					CACCTGAGGTGCTTCGAGCTC	0.697																																					p.C18F													.	.			0			c.G53T												10	9	9					7																	140373183		2186	4281	6467	SO:0001583	missense	90956	exon1			TGAGGTGCTTCGA	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.53G>T	7.37:g.140373183G>T	ENSP00000072869:p.Cys18Phe		70	0	0		32	0.09	3	NM_052853	14	0	0	Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888424	0.33348	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.47177	0.85;0.85	3.85	2.97	0.34412	.	0.521188	0.16095	N	0.229864	T	0.30885	0.0779	L	0.29908	0.895	0.09310	N	1	P;P	0.46277	0.875;0.79	B;B	0.38562	0.276;0.276	T	0.12630	-1.0540	10	0.52906	T	0.07	-37.161	6.3547	0.21395	0.1037:0.1868:0.7095:0.0	.	18;18	C9JE15;Q7Z695	.;ADCK2_HUMAN	F	18	ENSP00000072869:C18F;ENSP00000420512:C18F	ENSP00000072869:C18F	C	+	2	0	ADCK2	140019652	0.006000	0.16342	0.001000	0.08648	0.033000	0.12548	1.736000	0.38187	0.854000	0.35336	-0.339000	0.08088	TGC			0.697	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348734.1		NM_052853		T	140373183	G	T	140373183	3	4	6	1	0	0	0	0	1	0	0	0	289	1319	46	2	55	2	ADCK2	7	140373183	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	1885378	140373183	18765480	35	331											
ADAM2	2515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	39695678	39695678	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccgcagcccgccgagcccGctgagcagaaacaagacgcg	11	2	12	16	6	0	3	0	1	0	2	1	4	1	3	4	0	4	3	4	0	2	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr8:39695678G>A	ENST00000265708.4	-	1	130	c.27C>T	c.(25-27)agC>agT	p.S9S	ADAM2_ENST00000379853.2_Silent_p.S9S|ADAM2_ENST00000521880.1_Silent_p.S9S|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Silent_p.S9S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	9					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CGCCGAGCCCGCTGAGCAGAA	0.577																																					p.S9S													ADAM2,NS,carcinoma,0,2	ADAM2	0	2	0			c.C27T												76	76	76					8																	39695678		2203	4300	6503	SO:0001819	synonymous_variant	2515	exon1			GAGCCCGCTGAGC	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.27C>T	8.37:g.39695678G>A			181	0	0		121	0.21	26	NM_001464	0		0	P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	CCDS34884.1																																																																																					0.577	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376926.1		NM_001464		A	39695678	G	A	39695678	2	1	6	1	0	0	0	0	0	0	0	1	241	1078	38	1		1	ADAM2	8	39695678	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		39695678	106668344	36	332											
KCNV1	27012	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	110986360	110986360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtcgcaaagctccagaggGctgggcacggcggccagggc	7	4	17	13	4	0	1	0	0	0	1	3	1	1	1	2	5	1	4	2	5	1	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr8:110986360G>T	ENST00000524391.1	-	2	1290	c.258C>A	c.(256-258)agC>agA	p.S86R	KCNV1_ENST00000297404.1_Missense_Mutation_p.S86R|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	86					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCTCCAGAGGGCTGGGCACGG	0.682																																					p.S86R													.	KCNV1	101		0			c.C258A												26	24	24					8																	110986360		2201	4297	6498	SO:0001583	missense	27012	exon1			CAGAGGGCTGGGC	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.258C>A	8.37:g.110986360G>T	ENSP00000435954:p.Ser86Arg		56	0	0		50	0.1	5	NM_014379	1	0	0	Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789430	0.49997	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	D;D	0.97529	-4.42;-4.42	4.95	2.14	0.27477	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.254698	0.41294	D	0.000909	D	0.94165	0.8128	L	0.31476	0.935	0.37442	D	0.914477	P	0.42827	0.791	P	0.49252	0.604	D	0.91118	0.4927	10	0.22706	T	0.39	.	8.2057	0.31454	0.2543:0.0:0.7457:0.0	.	86	Q6PIU1	KCNV1_HUMAN	R	86	ENSP00000435954:S86R;ENSP00000297404:S86R	ENSP00000297404:S86R	S	-	3	2	KCNV1	111055536	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	1.327000	0.33746	0.680000	0.31366	-0.140000	0.14226	AGC			0.682	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385525.1		NM_014379		T	110986360	G	T	110986360	3	4	6	1	0	0	0	0	1	0	0	0	8109	1194	42	2	1256	2	KCNV1	8	110986360	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	71290682	110986360	35377662	37	333											
IFNA7	3444	ucsc.edu	37	chr9	21202073	21202073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctcctattacgcaggCtgtgggtctgaggcagatca	8	9	13	11	1	2	2	1	1	1	1	3	2	3	2	2	4	1	3	2	4	2	2	rs76903863	byFrequency	TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:21202073C>G	ENST00000239347.3	-	1	131	c.92G>C	c.(91-93)aGc>aCc	p.S31T		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	31					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATTACGCAGGCTGTGGGTCTG	0.502																																					p.S31T													.	IFNA7	24		0			c.G92C												95	94	94					9																	21202073		2203	4300	6503	SO:0001583	missense	3444	exon1			CGCAGGCTGTGGG		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"Interferons"	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.92G>C	9.37:g.21202073C>G	ENSP00000239347:p.Ser31Thr		114	0.0614035088	7		70	0.11	8	NM_021057	0		0	Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	C	7.904	0.734952	0.15574	.	.	ENSG00000214042	ENST00000239347	T	0.03413	3.94	3.14	-0.052	0.13824	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.925130	0.09173	N	0.838490	T	0.04952	0.0133	M	0.72576	2.205	0.09310	N	1	B	0.18968	0.032	B	0.23574	0.047	T	0.47032	-0.9148	10	0.21540	T	0.41	.	3.1528	0.06494	0.2119:0.5211:0.0:0.2669	.	31	P01567	IFNA7_HUMAN	T	31	ENSP00000239347:S31T	ENSP00000239347:S31T	S	-	2	0	IFNA7	21192073	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.746000	0.04829	0.106000	0.17784	-0.302000	0.09304	AGC			0.502	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051891.1		NM_021057		G	21202073	C	G	21202073	3	3	6	1	0	0	0	0	1	0	0	0	7557	797	28	5	481	5	IFNA7	9	21202073	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10		21202073	120011358	38	334											
LRRC19	64922	bcgsc.ca	37	chr9	26996466	26996466	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagctctgcaggctgttGgggtagctacacatggtgat	7	13	14	7	0	1	1	0	1	1	0	1	1	1	1	0	4	4	7	0	4	3	5			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:26996466G>T	ENST00000380055.5	-	4	737	c.627C>A	c.(625-627)ccC>ccA	p.P209P	IFT74_ENST00000429045.2_Intron|LRRC19_ENST00000482770.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	209	LRRCT.					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)		GCAGGCTGTTGGGGTAGCTAC	0.313																																					p.P209P													.	LRRC19	24		0			c.C627A												91	84	86					9																	26996466		2203	4300	6503	SO:0001819	synonymous_variant	64922	exon4			GCTGTTGGGGTAG	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.627C>A	9.37:g.26996466G>T			100	0	0		62	0.06	4	NM_022901	0		0	A0AV00|B9EG91	Silent	SNP	ENST00000380055.5	37	CCDS6518.1																																																																																					0.313	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051961.2		NM_022901		T	26996466	G	T	26996466	2	4	6	1	0	0	0	0	0	0	0	1	8991	1335	47	3		3	LRRC19	9	26996466	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	5794393	26996466	114216965	39	335											
FLJ46321	389763	broad.mit.edu	37	chr9	84608661	84608661	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagacttttctgcccccGccacacagcatcgtagacga	11	7	8	15	3	1	3	0	0	1	3	2	4	1	3	3	0	2	2	3	0	1	3	rs375859502		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:84608661G>A	ENST00000344803.2	+	4	3323	c.3276G>A	c.(3274-3276)ccG>ccA	p.P1092P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1092					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCTGCCCCCGCCACACAGCA	0.512																																					p.P1092P													FAM75D4,NS,carcinoma,+1,2	.		2	0			c.G3276A							G		1,3855		0,1,1927	44	46	46		3276	-2.9	0	9		46	0,8276		0,0,4138	no	coding-synonymous	FAM75D1	NM_001001670.2		0,1,6065	AA,AG,GG		0.0,0.0259,0.0082		1092/1577	84608661	1,12131	1928	4138	6066	SO:0001819	synonymous_variant	389763	exon4			GCCCCCGCCACAC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3276G>A	9.37:g.84608661G>A			44	0	0		34	0.09	3	NM_001001670	0		0		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																					0.512	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402325.1		NM_001001670		A	84608661	G	A	84608661	2	1	6	1	0	0	0	0	0	0	0	1	5945	1074	38	1		1	FLJ46321	9	84608661	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	57612195	84608661	56604770	40	336											
NINJ1	4814	mdanderson.org	37	chr9	95888707	95888707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaccaaggaagatgagcaGcacccccacgccgatctgca	12	4	9	16	2	1	2	0	1	1	1	1	4	1	3	5	1	4	3	5	1	3	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:95888707G>A	ENST00000375446.4	-	2	359	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	97					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						AAGATGAGCAGCACCCCCACG	0.647																																					p.L97L													.	.			0			c.C289T												78	72	74					9																	95888707		2202	4300	6502	SO:0001819	synonymous_variant	4814	exon2			TGAGCAGCACCCC	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"nerve injury-induced protein-1"	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.289C>T	9.37:g.95888707G>A			60	0	0		41	0.07	3	NM_004148	58	0	0	Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	ENST00000375446.4	37	CCDS6703.1																																																																																					0.647	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053123.2		NM_004148		A	95888707	G	A	95888707	2	1	6	1	0	0	0	0	0	0	0	1	10435	962	34	2		2	NINJ1	9	95888707	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	11280046	95888707	45324724	41	337											
CRB2	286204	mdanderson.org	37	chr9	126139289	126139289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaggtggctggggcccGgctggagatggacagtgtcc	6	6	20	9	1	0	1	0	0	0	1	1	4	1	3	2	8	0	3	2	8	0	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:126139289G>T	ENST00000373631.3	+	13	3807	c.3806G>T	c.(3805-3807)cGg>cTg	p.R1269L	CRB2_ENST00000373629.2_Missense_Mutation_p.R937L|DENND1A_ENST00000473039.1_5'Flank	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1269					cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTGGGGCCCGGCTGGAGATG	0.647																																					p.R1269L													.	.			0			c.G3806T												18	21	20					9																	126139289		2201	4295	6496	SO:0001583	missense	286204	exon13			GGGCCCGGCTGGA	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3806G>T	9.37:g.126139289G>T	ENSP00000362734:p.Arg1269Leu		75	0	0		48	0.06	3	NM_173689	3	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	35	5.413500	0.96072	.	.	ENSG00000148204	ENST00000373631;ENST00000373629	D;D	0.92199	-2.46;-2.99	5.27	5.27	0.74061	.	0.185225	0.26349	N	0.024889	D	0.96426	0.8834	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96898	0.9658	10	0.87932	D	0	.	18.8821	0.92360	0.0:0.0:1.0:0.0	.	1269	Q5IJ48	CRUM2_HUMAN	L	1269;937	ENSP00000362734:R1269L;ENSP00000362732:R937L	ENSP00000362732:R937L	R	+	2	0	CRB2	125179110	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.470000	0.97683	2.461000	0.83175	0.491000	0.48974	CGG			0.647	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053990.3		NM_173689		T	126139289	G	T	126139289	3	4	6	1	0	0	0	0	1	0	0	0	3851	1116	39	1	3856	1	CRB2	9	126139289	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	30250582	126139289	15074142	42	338											
CAMSAP1	157922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	138719406	138719406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtacaggaggccggctgCtcttctggtgtaacactgtt	6	12	13	10	2	2	0	0	0	2	0	3	1	2	1	1	5	3	5	1	5	2	4			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr9:138719406C>A	ENST00000389532.4	-	8	1134	c.1070G>T	c.(1069-1071)aGc>aTc	p.S357I	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S368I|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S79I|CAMSAP1_ENST00000483991.1_5'Flank	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	357					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)		AGGCCGGCTGCTCTTCTGGTG	0.537																																					p.S357I													.	.			0			c.G1070T												111	79	90					9																	138719406		2203	4300	6503	SO:0001583	missense	157922	exon8			CGGCTGCTCTTCT	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.1070G>T	9.37:g.138719406C>A	ENSP00000374183:p.Ser357Ile		37	0	0		34	0.32	11	NM_015447	14	0.79	11	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790502	0.70337	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.17370	2.31;2.28;2.31	5.11	5.11	0.69529	.	0.201112	0.53938	D	0.000046	T	0.27169	0.0666	M	0.72894	2.215	0.52501	D	0.999952	P;P	0.44429	0.698;0.835	B;P	0.45138	0.218;0.471	T	0.03651	-1.1016	10	0.87932	D	0	-2.1138	13.9112	0.63869	0.0:0.9246:0.0:0.0754	.	357;368	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	I	357;79;368	ENSP00000374183:S357I;ENSP00000312463:S79I;ENSP00000386420:S368I	ENSP00000312463:S79I	S	-	2	0	CAMSAP1	137859227	1.000000	0.71417	0.969000	0.41365	0.984000	0.73092	2.369000	0.44231	2.391000	0.81399	0.655000	0.94253	AGC			0.537	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055024.2		XM_351857		A	138719406	C	A	138719406	3	1	6	1	0	0	0	0	1	0	0	0	2613	797	28	2	3778	2	CAMSAP1	9	138719406	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	12580117	138719406	2494025	43	339											
PITRM1	10531	ucsc.edu	37	chr10	3193470	3193470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtccaactctgtgacaggTatggtgggttcaatatcgga	10	11	12	8	2	2	1	1	1	1	0	4	2	3	2	1	4	1	2	1	4	4	3			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr10:3193470T>C	ENST00000224949.4	-	15	1741	c.1707A>G	c.(1705-1707)atA>atG	p.I569M	PITRM1_ENST00000464395.1_5'Flank|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.I537M|PITRM1_ENST00000380994.1_Missense_Mutation_p.I127M|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.I569M			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	569					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTGTGACAGGTATGGTGGGTT	0.478																																					p.I569M													.	PITRM1	109		0			c.A1707G												51	52	52					10																	3193470		1925	4128	6053	SO:0001583	missense	10531	exon15			GACAGGTATGGTG	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1707A>G	10.37:g.3193470T>C	ENSP00000224949:p.Ile569Met		100	0	0		71	0.01	1	NM_014889	54	0.15	8	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	5.746|5.746	0.322142|0.322142	0.10900|0.10900	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104|ENST00000430362	T;T;T;T|.	0.31769|.	1.48;1.48;1.48;1.48|.	5.67|5.67	-5.54|-5.54	0.02544|0.02544	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.308868|.	0.42548|.	N|.	0.000698|.	T|T	0.19005|0.19005	0.0456|0.0456	N|N	0.25890|0.25890	0.77|0.77	0.21782|0.21782	N|N	0.999548|0.999548	B;B;B;B;B;B|.	0.18968|.	0.012;0.003;0.01;0.013;0.013;0.032|.	B;B;B;B;B;B|.	0.32149|.	0.01;0.016;0.087;0.141;0.141;0.141|.	T|T	0.25257|0.25257	-1.0137|-1.0137	10|5	0.39692|.	T|.	0.17|.	.|.	3.0665|3.0665	0.06217|0.06217	0.1483:0.2976:0.3823:0.1718|0.1483:0.2976:0.3823:0.1718	.|.	562;537;569;569;569;562|.	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07|.	.;.;.;.;PREP_HUMAN;.|.	M|A	569;562;569;127;537|206	ENSP00000224949:I569M;ENSP00000370377:I569M;ENSP00000370382:I127M;ENSP00000401201:I537M|.	ENSP00000224949:I569M|.	I|T	-|-	3|1	3|0	PITRM1|PITRM1	3183470|3183470	0.625000|0.625000	0.27111|0.27111	0.002000|0.002000	0.10522|0.10522	0.024000|0.024000	0.10985|0.10985	-0.455000|-0.455000	0.06762|0.06762	-1.346000|-1.346000	0.02211|0.02211	-1.202000|-1.202000	0.01658|0.01658	ATA|ACC			0.478	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000046469.2				C	3193470	T	C	3193470	3	2	6	1	0	0	0	0	1	0	0	0	11970	1628	57	4	1458	4	PITRM1	10	3193470	Missense_Mutation	SNP	T	TCGA-2G-AAF8-01A-11D-A42Y-10		3193470	132341277	44	340											
CACNB2	783	mdanderson.org	37	chr10	18629869	18629869	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagcatgcttgacagacGccttatagctcctcaaacta	11	11	7	12	1	2	2	1	1	1	1	3	2	3	2	2	0	4	3	2	0	5	5			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr10:18629869G>T	ENST00000324631.7	+	3	273				CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377329.4_Missense_Mutation_p.R5L|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000396576.2_Intron	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGACAGACGCCTTATAGCT	0.478																																					p.R5L													.	.			0			c.G14T												150	150	150					10																	18629869		1918	4132	6050	SO:0001627	intron_variant	783	exon1			ACAGACGCCTTAT	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.214-60984G>T	10.37:g.18629869G>T			59	0	0		49	0.06	3	NM_201590	0		0	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009637	0.54361	.	.	ENSG00000165995	ENST00000377329	D	0.82344	-1.6	5.16	2.17	0.27698	.	.	.	.	.	T	0.52289	0.1725	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.33171	0.4;0.4;0.057;0.095	B;B;B;B	0.20577	0.03;0.022;0.012;0.027	T	0.46133	-0.9213	9	0.37606	T	0.19	.	6.9937	0.24769	0.3105:0.0:0.6895:0.0	.	5;5;5;5	Q5QJ99;Q6TME0;Q6TME1;Q08289-3	.;.;.;.	L	5	ENSP00000366546:R5L	ENSP00000366546:R5L	R	+	2	0	CACNB2	18669875	1.000000	0.71417	0.479000	0.27329	0.503000	0.33858	2.038000	0.41184	0.283000	0.22279	0.655000	0.94253	CGC			0.478	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047072.2		NM_000724		T	18629869	G	T	18629869	1	4	6	0	1	0	0	0	0	0	0	0	2555	1087	38	1		1	CACNB2	10	18629869	Intron	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	15436399	18629869	116904878	45	341											
EGR2	1959	mdanderson.org	37	chr10	64573455	64573455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgggccgcagtggcaGgtggtgtgggttataggcgg	7	8	20	6	2	0	1	0	0	0	1	0	1	0	1	1	7	0	3	1	7	3	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr10:64573455G>T	ENST00000242480.3	-	2	1268	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	EGR2_ENST00000411732.1_Missense_Mutation_p.L265M|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.L315M	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	315					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGCAGTGGCAGGTGGTGTGGG	0.697																																					p.L315M													.	.			0			c.C943A												21	25	24					10																	64573455		2203	4299	6502	SO:0001583	missense	1959	exon3			GTGGCAGGTGGTG	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.943C>A	10.37:g.64573455G>T	ENSP00000242480:p.Leu315Met		27	0	0		16	0.13	2	NM_001136177	3	0	0	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710315	0.48517	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.15017	2.46;2.46;2.54	4.96	3.08	0.35506	.	0.095006	0.44097	D	0.000488	T	0.29882	0.0747	L	0.60455	1.87	0.40529	D	0.980914	D;D	0.69078	0.997;0.997	D;P	0.65010	0.931;0.879	T	0.03993	-1.0986	10	0.87932	D	0	-9.7501	5.6679	0.17704	0.1644:0.0:0.6778:0.1578	.	265;315	P11161-2;P11161	.;EGR2_HUMAN	M	315;315;265	ENSP00000242480:L315M;ENSP00000402040:L315M;ENSP00000387634:L265M	ENSP00000242480:L315M	L	-	1	2	EGR2	64243461	0.820000	0.29190	0.998000	0.56505	0.954000	0.61252	0.363000	0.20301	0.658000	0.30925	0.655000	0.94253	CTG			0.697	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048245.2		NM_000399		T	64573455	G	T	64573455	3	4	6	1	0	0	0	0	1	0	0	0	4977	991	35	3	491	3	EGR2	10	64573455	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	45943586	64573455	70961292	46	342											
TRIM8	81603	mdanderson.org	37	chr10	104416978	104416978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtactcacacccgctcccgcCcacaccctccgtcccccagt	6	6	5	24	3	1	0	1	0	0	0	4	0	4	0	7	0	1	2	7	0	1	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr10:104416978C>A	ENST00000302424.7	+	6	1645	c.1523C>A	c.(1522-1524)cCc>cAc	p.P508H		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	508					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)		CCGCTCCCGCCCACACCCTCC	0.672																																					p.P508H													.	.			0			c.C1523A												45	41	42					10																	104416978		2203	4299	6502	SO:0001583	missense	81603	exon6			TCCCGCCCACACC	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.1523C>A	10.37:g.104416978C>A	ENSP00000302120:p.Pro508His		45	0	0		35	0.09	3	NM_030912	101	0	0	A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275038	0.59649	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.79141	-1.24	5.25	5.25	0.73442	.	0.186201	0.47852	D	0.000215	T	0.73853	0.3640	N	0.14661	0.345	0.58432	D	0.999999	D	0.63046	0.992	P	0.51355	0.667	T	0.79603	-0.1735	10	0.87932	D	0	.	18.8291	0.92130	0.0:1.0:0.0:0.0	.	508	Q9BZR9	TRIM8_HUMAN	H	508;507	ENSP00000302120:P508H	ENSP00000302120:P508H	P	+	2	0	TRIM8	104406968	1.000000	0.71417	0.835000	0.33067	0.986000	0.74619	7.303000	0.78871	2.456000	0.83038	0.491000	0.48974	CCC			0.672	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050084.3		NM_030912		A	104416978	C	A	104416978	3	1	6	1	0	0	0	0	1	0	0	0	16572	623	22	3	1545	3	TRIM8	10	104416978	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	39843523	104416978	31117769	47	343											
PTDSS2	81490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	490432	490432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccccagggacatcacattGaggtacaaggagacccggtg	11	6	12	12	1	1	2	1	1	0	1	2	4	2	3	3	4	1	1	3	4	2	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:490432G>A	ENST00000308020.5	+	12	1490	c.1314G>A	c.(1312-1314)ttG>ttA	p.L438L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	438					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)	ACATCACATTGAGGTACAAGG	0.652																																					p.L438L													.	.			0			c.G1314A												65	54	58					11																	490432		2202	4300	6502	SO:0001819	synonymous_variant	81490	exon12			CACATTGAGGTAC	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.1314G>A	11.37:g.490432G>A			207	0	0		110	0.19	21	NM_030783	49	0.35	17		Silent	SNP	ENST00000308020.5	37	CCDS7696.1																																																																																					0.652	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239301.2				A	490432	G	A	490432	2	1	6	1	0	0	0	0	0	0	0	1	12757	1281	45	3		3	PTDSS2	11	490432	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		490432	134516084	48	344											
FBXO3	26273	mdanderson.org	37	chr11	33780040	33780040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaatatcttacccaggaaCcactaacttctgtccattgt	11	14	5	11	0	2	1	0	1	2	0	3	2	3	2	3	1	3	0	3	1	5	6			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:33780040C>T	ENST00000265651.3	-	4	484	c.466G>A	c.(466-468)Gtt>Att	p.V156I	FBXO3_ENST00000533103.1_5'Flank|FBXO3_ENST00000534136.1_Missense_Mutation_p.V156I|FBXO3_ENST00000526785.1_Missense_Mutation_p.V43I|FBXO3_ENST00000448981.2_Missense_Mutation_p.V156I|FBXO3_ENST00000530401.1_Missense_Mutation_p.V151I	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	156					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)		TACCCAGGAACCACTAACTTC	0.363																																					p.V156I													.	.			0			c.G466A												118	114	115					11																	33780040		2202	4298	6500	SO:0001583	missense	26273	exon4			CAGGAACCACTAA	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.466G>A	11.37:g.33780040C>T	ENSP00000265651:p.Val156Ile		91	0	0		51	0.06	3	NM_012175	8	0	0	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	6.948	0.544820	0.13312	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000321458;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.74	5.74	0.90152	Cell wall assembly/cell proliferation coordinating protein, KNR4-like (1);	0.055020	0.64402	D	0.000001	T	0.33206	0.0855	L	0.27053	0.805	0.58432	D	0.999992	B;B;B	0.15473	0.008;0.008;0.013	B;B;B	0.12156	0.007;0.007;0.004	T	0.12400	-1.0549	10	0.13853	T	0.58	-24.7278	19.915	0.97057	0.0:1.0:0.0:0.0	.	151;156;156	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	I	43;156;153;151;156;156	ENSP00000435680:V43I;ENSP00000265651:V156I;ENSP00000433781:V151I;ENSP00000431745:V156I;ENSP00000408836:V156I	ENSP00000265651:V156I	V	-	1	0	FBXO3	33736616	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	5.448000	0.66612	2.707000	0.92482	0.557000	0.71058	GTT			0.363	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388665.1		NM_012175		T	33780040	C	T	33780040	3	4	6	1	0	0	0	0	1	0	0	0	5752	507	18	3	990	3	FBXO3	11	33780040	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	33289608	33780040	101226476	49	345											
C11orf48	79081	mdanderson.org	37	chr11	62437194	62437194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcagcagctcctcatgggGcaaatggagatccccactct	10	7	10	14	0	2	1	1	0	1	1	4	2	4	1	3	3	3	4	3	3	1	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:62437194G>T	ENST00000431002.2	-	1	2043	c.310C>A	c.(310-312)Ccc>Acc	p.P104T	C11orf48_ENST00000354588.3_Missense_Mutation_p.P78T|C11orf83_ENST00000377953.3_5'Flank|C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000532208.1_Missense_Mutation_p.P78T			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	104										endometrium(1)|lung(5)|urinary_tract(1)	7						TCCTCATGGGGCAAATGGAGA	0.527																																					p.P78T													.	.			0			c.C232A												123	119	120					11																	62437194		2202	4299	6501	SO:0001583	missense	79081	exon3			CATGGGGCAAATG	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.310C>A	11.37:g.62437194G>T	ENSP00000416856:p.Pro104Thr		127	0	0		136	0.04	6	NM_024099	7	0	0	Q96NA4	Missense_Mutation	SNP	ENST00000431002.2	37		.	.	.	.	.	.	.	.	.	.	G	14.53	2.563020	0.45694	.	.	ENSG00000162194	ENST00000354588;ENST00000431002;ENST00000532208;ENST00000377954;ENST00000526490	.	.	.	4.32	3.36	0.38483	.	.	.	.	.	T	0.47060	0.1425	N	0.19112	0.55	0.80722	D	1	D;D	0.59357	0.985;0.959	P;P	0.55824	0.785;0.675	T	0.47995	-0.9073	8	0.87932	D	0	-0.01	6.4791	0.22053	0.1453:0.0:0.8547:0.0	.	78;78	B4DYP8;Q9BQE6-2	.;.	T	78;104;78;103;78	.	ENSP00000346600:P78T	P	-	1	0	C11orf48	62193770	0.998000	0.40836	0.720000	0.30636	0.925000	0.55904	1.584000	0.36589	1.081000	0.41110	0.563000	0.77884	CCC			0.527	C11orf48-004	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000395233.1		NM_024099		T	62437194	G	T	62437194	3	4	6	1	0	0	0	0	1	0	0	0	1646	1203	42	2	579	2	C11orf48	11	62437194	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	28657154	62437194	72569322	50	346											
NRXN2	9379	mdanderson.org	37	chr11	64418974	64418974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgcactggtccatgtaggGctggccattgaacacgagcc	8	9	12	12	1	0	1	0	1	0	0	1	2	1	1	3	3	3	3	3	3	2	3			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:64418974G>T	ENST00000377551.1	-	13	2882	c.2671C>A	c.(2671-2673)Ccc>Acc	p.P891T	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.P884T|NRXN2_ENST00000265459.6_Missense_Mutation_p.P891T|NRXN2_ENST00000377559.3_Missense_Mutation_p.P851T			Q9P2S2	NRX2A_HUMAN	neurexin 2	891	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						TCCATGTAGGGCTGGCCATTG	0.577											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P891T													NRXN2,NS,carcinoma,+2,1	NRXN2	2	1	0			c.C2671A												102	69	80					11																	64418974		2201	4297	6498	SO:0001583	missense	9379	exon14			TGTAGGGCTGGCC		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.2671C>A	11.37:g.64418974G>T	ENSP00000366774:p.Pro891Thr		73	0	0	1076	52	0.06	3	NM_015080	9	0	0	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247249	0.59103	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.60797	0.16;0.21;0.16;0.26	4.93	4.93	0.64822	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.43110	U	0.000620	T	0.56411	0.1983	M	0.68593	2.085	0.42975	D	0.994442	P;P;P	0.46327	0.876;0.788;0.799	B;B;B	0.42030	0.373;0.231;0.343	T	0.57423	-0.7814	10	0.20519	T	0.43	.	15.6455	0.77046	0.0:0.0:1.0:0.0	.	851;891;637	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	T	891;851;891;851;884	ENSP00000366774:P891T;ENSP00000366782:P851T;ENSP00000265459:P891T;ENSP00000386416:P884T	ENSP00000265459:P891T	P	-	1	0	NRXN2	64175550	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.955000	0.56715	2.276000	0.75962	0.561000	0.74099	CCC			0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104967.3		NM_015080		T	64418974	G	T	64418974	3	4	6	1	0	0	0	0	1	0	0	0	10683	1203	42	2	2776	2	NRXN2	11	64418974	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	1981780	64418974	70587542	51	347											
DKFZp761E198	91056	mdanderson.org	37	chr11	65545807	65545807	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagcagagggcgggcaggGcggccaggacacaggcaggg	10	0	22	9	2	0	1	0	0	0	1	0	3	0	3	1	8	1	3	1	8	0	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:65545807G>T	ENST00000532090.2	-	2	2367	c.2157C>A	c.(2155-2157)cgC>cgA	p.R719R		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	719					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGCGGGCAGGGCGGCCAGGAC	0.667																																					p.R719R													.	.			0			c.C2157A												18	23	21					11																	65545807		2155	4250	6405	SO:0001819	synonymous_variant	91056	exon2			GGCAGGGCGGCCA	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.2157C>A	11.37:g.65545807G>T			50	0	0		38	0.08	3	NM_138368	18	0	0	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	ENST00000532090.2	37	CCDS58146.1																																																																																					0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390636.2		NM_138368		T	65545807	G	T	65545807	2	4	6	1	0	0	0	0	0	0	0	1	4548	1190	42	2		2	DKFZp761E198	11	65545807	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	1126833	65545807	69460709	52	348											
LRTOMT	55004	mdanderson.org	37	chr11	71817127	71817127	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagactgcctgtcagggctgCggatcgaggagcgggccttc	6	7	17	11	3	1	1	1	0	0	1	3	5	1	3	2	4	3	1	2	4	0	1	rs553961145		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:71817127C>T	ENST00000278671.5	-	0	0				LRTOMT_ENST00000419228.1_Missense_Mutation_p.R37W|LAMTOR1_ENST00000538404.1_5'Flank|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000435085.1_Missense_Mutation_p.R77W|LAMTOR1_ENST00000545249.1_5'Flank|LAMTOR1_ENST00000535107.1_5'Flank|snoU13_ENST00000459046.1_RNA|LRTOMT_ENST00000307198.7_Missense_Mutation_p.R77W	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1						cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						GTCAGGGCTGCGGATCGAGGA	0.647													C|||	1	0.000199681	0	0.0014	5008	,	,		18672	0		0	False		,,,				2504	0				p.R77W													.	.			0			c.C229T												35	36	36					11																	71817127		692	1591	2283	SO:0001631	upstream_gene_variant	220074	exon5			GGGCTGCGGATCG	AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869		11.37:g.71817127C>T	Exception_encountered		47	0	0		25	0.08	2	NM_001145308	2	0	0	Q8WZ09|Q9NWT0	Missense_Mutation	SNP	ENST00000278671.5	37	CCDS8209.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811813	0.50527	.	.	ENSG00000184154	ENST00000419228;ENST00000435085;ENST00000307198	D;D;D	0.90385	-2.66;-2.66;-2.66	4.59	4.59	0.56863	.	.	.	.	.	D	0.85035	0.5605	L	0.29908	0.895	0.09310	N	1	P;D	0.54772	0.946;0.968	B;B	0.43783	0.249;0.431	T	0.78231	-0.2284	9	0.72032	D	0.01	-7.4648	8.2405	0.31658	0.0:0.7525:0.1609:0.0867	.	77;37	Q8WZ04;Q8WZ04-2	TOMT_HUMAN;.	W	37;77;77	ENSP00000392233:R37W;ENSP00000409789:R77W;ENSP00000305742:R77W	ENSP00000305742:R37W	R	+	1	2	LRTOMT	71494775	0.515000	0.26210	0.968000	0.41197	0.986000	0.74619	0.960000	0.29253	2.532000	0.85374	0.462000	0.41574	CGG			0.647	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396733.1		NM_017907		T	71817127	C	T	71817127	1	4	6	0	1	0	0	0	0	0	0	0	9062	759	27	1		1	LRTOMT	11	71817127	5'Flank	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	6271320	71817127	63189389	53	349											
DSCAML1	57453	mdanderson.org	37	chr11	117352815	117352815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccgtgccgtgcagtttaGctccttcgcatggcccttga	5	11	10	15	3	0	1	0	1	0	0	2	1	1	1	5	1	3	4	5	1	1	4			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:117352815G>T	ENST00000321322.6	-	12	2603	c.2602C>A	c.(2602-2604)Cta>Ata	p.L868I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L598I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	808	Ig-like C2-type 9.				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)		GTGCAGTTTAGCTCCTTCGCA	0.642																																					p.L868I													.	.			0			c.C2602A												132	99	111					11																	117352815		2201	4296	6497	SO:0001583	missense	57453	exon12			AGTTTAGCTCCTT		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.2602C>A	11.37:g.117352815G>T	ENSP00000315465:p.Leu868Ile		113	0.0088495575	1		42	0.07	3	NM_020693	0		0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271595	0.59649	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60797	0.16;0.16	3.89	3.89	0.44902	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61850	0.2380	M	0.69358	2.11	0.58432	D	0.999999	B	0.33583	0.418	B	0.39590	0.304	T	0.69281	-0.5186	9	0.72032	D	0.01	.	16.1057	0.81220	0.0:0.0:1.0:0.0	.	808	Q8TD84	DSCL1_HUMAN	I	598;868;575	ENSP00000434335:L598I;ENSP00000315465:L868I	ENSP00000315465:L868I	L	-	1	2	DSCAML1	116858025	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	4.023000	0.57211	2.000000	0.58554	0.485000	0.47835	CTA			0.642	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392907.2		NM_020693		T	117352815	G	T	117352815	3	4	6	1	0	0	0	0	1	0	0	0	4774	962	34	2	3827	2	DSCAML1	11	117352815	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	45535688	117352815	17653701	54	350											
OR8D1	283159	mdanderson.org	37	chr11	124179874	124179874	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtccagggagttacttgaAgggggcttgaaatacatgaa	12	10	14	5	0	0	3	0	3	0	0	1	4	1	4	1	4	2	2	1	4	5	4	rs200912007		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr11:124179874A>G	ENST00000357821.2	-	1	859	c.789T>C	c.(787-789)ccT>ccC	p.P263P		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, 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)			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)		AGTTACTTGAAGGGGGCTTGA	0.493																																					p.P263P													.	.			0			c.T789C												96	92	94					11																	124179874		2201	4299	6500	SO:0001819	synonymous_variant	283159	exon1			ACTTGAAGGGGGC	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.789T>C	11.37:g.124179874A>G			105	0.0095238095	1		50	0.06	3	NM_001002917	0		0	B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	CCDS31706.1																																																																																			0		0.493	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387285.1		NM_001002917		G	124179874	A	G	124179874	2	3	6	1	0	0	0	0	0	0	0	1	11248	59	3	4		4	OR8D1	11	124179874	Silent	SNP	A	TCGA-2G-AAF8-01A-11D-A42Y-10	6827059	124179874	10826642	55	351											
CACNA1C	775	mdanderson.org	37	chr12	2774012	2774012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgccaccggggaggcctgGcaggacatcatgctggcctg	6	7	16	12	1	1	0	1	0	0	0	1	2	1	2	4	6	2	2	4	6	0	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr12:2774012G>T	ENST00000347598.4	+	37	4398	c.4398G>T	c.(4396-4398)tgG>tgT	p.W1466C	CACNA1C_ENST00000399606.1_Missense_Mutation_p.W1438C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.W1446C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.W1405C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.W1440C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.W1435C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.W1407C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.W1418C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.W1443C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.W1407C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.W1418C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1466					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)	GGGAGGCCTGGCAGGACATCA	0.637																																					p.W1466C													.	.			0			c.G4398T												27	29	28					12																	2774012		2169	4290	6459	SO:0001583	missense	775	exon37			GGCCTGGCAGGAC	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.4398G>T	12.37:g.2774012G>T	ENSP00000266376:p.Trp1466Cys		44	0	0		25	0.12	3	NM_199460	0		0	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	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057753	0.76074	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	4.07	4.07	0.47477	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99847	4.84	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;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;0.999;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;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.999;0.999;0.998;0.999;0.999;0.999;0.999;1.0;0.999;0.999;1.0;0.999;0.999;1.0;0.995;1.0;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.97709	1.0189	10	0.87932	D	0	.	16.8336	0.85951	0.0:0.0:1.0:0.0	.	109;1440;1415;1466;1418;1418;1418;1435;1446;1418;1438;1418;1378;1466;1418;1418;1418;1407;1405;1407;1407;1418;1418;1418;1418	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1443;1418;1418;1446;1418;1418;1418;1407;1418;1466;1438;1418;1440;1435;1418;1405;1418;1418;1418;1418;1418;1407;1248	ENSP00000336982:W1443C;ENSP00000382563:W1418C;ENSP00000382552:W1418C;ENSP00000382547:W1446C;ENSP00000382506:W1418C;ENSP00000382530:W1418C;ENSP00000382546:W1418C;ENSP00000382500:W1407C;ENSP00000382549:W1418C;ENSP00000266376:W1466C;ENSP00000382515:W1438C;ENSP00000382510:W1418C;ENSP00000341092:W1440C;ENSP00000382537:W1435C;ENSP00000329877:W1418C;ENSP00000382557:W1405C;ENSP00000385724:W1418C;ENSP00000382512:W1418C;ENSP00000382542:W1418C;ENSP00000382526:W1418C;ENSP00000385896:W1418C;ENSP00000382504:W1407C	ENSP00000323129:W1248C	W	+	3	0	CACNA1C	2644273	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.264000	0.75181	0.561000	0.74099	TGG			0.637	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317035.1		NM_000719		T	2774012	G	T	2774012	3	4	6	1	0	0	0	0	1	0	0	0	2542	1212	42	2	4718	2	CACNA1C	12	2774012	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		2774012	131077883	56	352											
CASC1	55259	broad.mit.edu	37	chr12	25343549	25343549	+	Intron	DEL	T	T	-																															tgaaaaaaattctacataccTtttttgctttgggaccctaa																										TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr12:25343549delT	ENST00000320267.9	-	1	85				CASC1_ENST00000557684.1_Intron|CASC1_ENST00000395987.3_Splice_Site_p.K7fs|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000354189.5_Splice_Site_p.K65fs|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395990.2_5'UTR	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTACATACCTTTTTTGCTTT	0.229																																					p.K65fs													.	CASC1	146		0			c.194delA												38	38	38					12																	25343549		1776	4021	5797	SO:0001627	intron_variant	55259	exon2			CATACCTTTTTTG	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.3+4460A>-	12.37:g.25343549delT			440	0	0		3662	0	7	NM_001082972	0		0	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Splice_Site	DEL	ENST00000320267.9	37	CCDS41762.1																																																																																					0.229	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000316761.1		NM_018272		-	25343549	T	-	25343549	6	5	6	0	1	1	0	1	0	0	0	0	2662	1623	56	0		0	CASC1	12	25343549	Intron	DEL	T	TCGA-2G-AAF8-01A-11D-A42Y-10	22569537	25343549	108508346	57	353											
YAF2	10138	mdanderson.org	37	chr12	42631962	42631962	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcgctgttacctggtGgggctcttcttgtctcccat	2	13	12	14	2	3	0	0	0	3	0	4	0	3	0	3	4	1	3	3	4	1	3	rs377532776		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr12:42631962G>T	ENST00000534854.2	-	1	88	c.21C>A	c.(19-21)ccC>ccA	p.P7P	YAF2_ENST00000380788.3_5'UTR|YAF2_ENST00000327791.4_Silent_p.P7P|YAF2_ENST00000555248.2_Silent_p.P7P|YAF2_ENST00000380790.4_Silent_p.P7P|PPHLN1_ENST00000549190.1_5'Flank|YAF2_ENST00000442791.3_Silent_p.P7P|YAF2_ENST00000541702.2_5'UTR	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	7					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)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		GTTACCTGGTGGGGCTCTTCT	0.701																																					p.P7P													.	.			0			c.C21A												7	9	8					12																	42631962		2143	4248	6391	SO:0001819	synonymous_variant	10138	exon1			CCTGGTGGGGCTC	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.21C>A	12.37:g.42631962G>T			93	0.0107526882	1		47	0.06	3	NM_005748	8	0	0	A8K5P0|B4DFU3|G3V465|Q99710	Silent	SNP	ENST00000534854.2	37	CCDS31775.1																																																																																					0.701	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403781.1				T	42631962	G	T	42631962	2	4	6	1	0	0	0	0	0	0	0	1	17489	1335	47	3		3	YAF2	12	42631962	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	17288413	42631962	91219933	58	354											
DCT	1638	mdanderson.org	37	chr13	95121166	95121166	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgcgagatctaaggcGcccaagaactgctctctttc	8	12	8	13	3	3	2	0	0	3	2	6	3	3	2	1	1	2	1	1	1	3	4			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr13:95121166G>T	ENST00000377028.5	-	2	842	c.429C>A	c.(427-429)ggC>ggA	p.G143G	DCT_ENST00000446125.1_Silent_p.G143G|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	143					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)		GATCTAAGGCGCCCAAGAACT	0.562																																					p.G143G													DCT_ENST00000446125,colon,carcinoma,0,5	DCT_ENST00000446125	0	5	0			c.C429A												222	221	222					13																	95121166		2203	4300	6503	SO:0001819	synonymous_variant	1638	exon2			TAAGGCGCCCAAG	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.429C>A	13.37:g.95121166G>T			91	0	0		51	0.06	3	NM_001129889	0		0	Q09GT4	Silent	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																					0.562	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045461.3				T	95121166	G	T	95121166	2	4	6	1	0	0	0	0	0	0	0	1	4306	1074	38	1		1	DCT	13	95121166	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		95121166	20048712	59	355											
RNF31	55072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24620535	24620535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagagcctggctggatcgtCatggcaaccttgatgaagct	9	9	14	9	1	1	3	1	2	0	1	2	5	1	4	2	4	3	3	2	4	2	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr14:24620535C>T	ENST00000324103.6	+	9	2004	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	RNF31_ENST00000559275.1_Missense_Mutation_p.H411Y|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.H37Y|RNF31_ENST00000382687.3_Missense_Mutation_p.H411Y	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	562					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCTGGATCGTCATGGCAACCT	0.597																																					p.H562Y													.	.			0			c.C1684T												71	79	76					14																	24620535		2152	4246	6398	SO:0001583	missense	55072	exon9			GATCGTCATGGCA	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1684C>T	14.37:g.24620535C>T	ENSP00000315112:p.His562Tyr		83	0	0		45	0.16	7	NM_017999	137	0.32	44	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869589	0.51588	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.42900	0.96;0.96	5.31	4.42	0.53409	UBA-like (1);	0.137318	0.52532	D	0.000080	T	0.44222	0.1283	L	0.36672	1.1	0.30522	N	0.768361	P;D;D	0.62365	0.927;0.985;0.991	B;P;P	0.56088	0.406;0.622;0.791	T	0.46428	-0.9192	10	0.48119	T	0.1	-11.5739	8.8741	0.35334	0.0:0.7694:0.1499:0.0807	.	321;562;411	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	Y	562;411	ENSP00000315112:H562Y;ENSP00000372134:H411Y	ENSP00000315112:H562Y	H	+	1	0	RNF31	23690375	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	2.488000	0.45276	1.468000	0.48064	0.655000	0.94253	CAT			0.597	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071921.3		NM_017999		T	24620535	C	T	24620535	3	4	6	1	0	0	0	0	1	0	0	0	13510	826	29	3	1718	3	RNF31	14	24620535	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10		24620535	82729005	60	356											
TSHR	7253	mdanderson.org	37	chr14	81422036	81422036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggaaaatgaggccggcGgacttgctgcagctggtgct	7	8	16	10	3	0	1	0	1	0	0	0	3	0	3	2	5	4	4	2	5	2	1	rs377366847		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr14:81422036G>A	ENST00000541158.2	+	2	334	c.12G>A	c.(10-12)gcG>gcA	p.A4A	TSHR_ENST00000554435.1_Silent_p.A4A|TSHR_ENST00000298171.2_Silent_p.A4A|TSHR_ENST00000554263.1_Silent_p.A4A|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000342443.6_Silent_p.A4A			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	4					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)	TGAGGCCGGCGGACTTGCTGC	0.617			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.A4A			yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	.			0			c.G12A							G	,,	1,4405	2.1+/-5.4	0,1,2202	62	69	66		12,12,12	-1.9	0	14	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TSHR	NM_000369.2,NM_001018036.2,NM_001142626.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	4/765,4/254,4/275	81422036	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7253	exon1			GCCGGCGGACTTG	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.12G>A	14.37:g.81422036G>A			42	0	0		26	0.08	2	NM_000369	1	0	0	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																					0.617	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413364.1		NM_000369		A	81422036	G	A	81422036	2	1	6	1	0	0	0	0	0	0	0	1	16646	1103	39	1		1	TSHR	14	81422036	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	56801501	81422036	25927504	61	357											
C14orf159	80017	broad.mit.edu	37	chr14	91671092	91671092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgggatgggtaaagtcaAggaggctgtgaggaggcaca	11	7	18	5	0	1	1	1	1	0	0	1	4	1	4	0	6	0	4	0	6	3	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr14:91671092A>G	ENST00000523771.1	+	12	2075	c.1472A>G	c.(1471-1473)aAg>aGg	p.K491R	C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000412671.2_Missense_Mutation_p.K496R|C14orf159_ENST00000518868.1_Missense_Mutation_p.K496R|C14orf159_ENST00000256324.10_Missense_Mutation_p.K496R|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000428926.2_Missense_Mutation_p.K491R|C14orf159_ENST00000525393.2_Missense_Mutation_p.K367R|C14orf159_ENST00000523816.1_Missense_Mutation_p.K491R|C14orf159_ENST00000522322.1_Missense_Mutation_p.K491R			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	491						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GGTAAAGTCAAGGAGGCTGTG	0.617																																					p.K496R													.	C14orf159	57		0			c.A1487G												170	111	131					14																	91671092		2203	4300	6503	SO:0001583	missense	80017	exon12			AAGTCAAGGAGGC	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1472A>G	14.37:g.91671092A>G	ENSP00000429655:p.Lys491Arg		70	0	0		66	0.05	3	NM_001102368	58	0	0	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.93|16.93	3.257770|3.257770	0.59321|0.59321	.|.	.|.	ENSG00000133943|ENSG00000133943	ENST00000256324;ENST00000518868;ENST00000523816;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671|ENST00000522816	T;T;T;T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28|.	5.17|5.17	4.02|4.02	0.46733|0.46733	.|.	0.167530|.	0.51477|.	D|.	0.000097|.	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.47190|0.47190	1.495|1.495	0.42288|0.42288	D|D	0.992129|0.992129	B;P;B|.	0.51537|.	0.413;0.946;0.36|.	B;P;B|.	0.45881|.	0.096;0.496;0.058|.	T|T	0.53070|0.53070	-0.8490|-0.8490	10|5	0.18710|.	T|.	0.47|.	.|.	10.6184|10.6184	0.45465|0.45465	0.923:0.0:0.077:0.0|0.923:0.0:0.077:0.0	.|.	491;367;496|.	Q7Z3D6;Q8NB88;Q7Z3D6-2|.	CN159_HUMAN;.;.|.	R|G	496;496;491;367;491;491;491;496|92	ENSP00000256324:K496R;ENSP00000428263:K496R;ENSP00000428974:K491R;ENSP00000435459:K367R;ENSP00000404343:K491R;ENSP00000427953:K491R;ENSP00000429655:K491R;ENSP00000404196:K496R|.	ENSP00000256324:K496R|.	K|R	+|+	2|1	0|2	C14orf159|C14orf159	90740845|90740845	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.780000|0.780000	0.44128|0.44128	4.674000|4.674000	0.61612|0.61612	0.808000|0.808000	0.34231|0.34231	0.482000|0.482000	0.46254|0.46254	AAG|AGG			0.617	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381273.1		NM_024952		G	91671092	A	G	91671092	3	3	6	1	0	0	0	0	1	0	0	0	1757	72	3	4	1525	4	C14orf159	14	91671092	Missense_Mutation	SNP	A	TCGA-2G-AAF8-01A-11D-A42Y-10	10249056	91671092	15678448	62	358											
CASC5	57082	broad.mit.edu	37	chr15	40915174	40915175	+	Frame_Shift_Del	DEL	TA	TA	-																															ttggcaggaacttctgaaacTattttatatacatgtaggca																										TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr15:40915174_40915175delTA	ENST00000346991.5	+	11	3180_3181	c.2790_2791delTA	c.(2788-2793)actattfs	p.I931fs	CASC5_ENST00000399668.2_Frame_Shift_Del_p.I905fs|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	931	2 X 104 AA approximate repeats.				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)		CTTCTGAAACTATTTTATATAC	0.361																																					p.930_931del													.	CASC5	269		0			c.2790_2791del																																									SO:0001589	frameshift_variant	57082	exon11			TGAAACTATTTTA	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.2790_2791delTA	15.37:g.40915174_40915175delTA	ENSP00000335463:p.Ile931fs		169	0	0		169	0.06	10	NM_170589	5	0	0	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Del	DEL	ENST00000346991.5	37	CCDS42023.1																																																																																					0.361	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390224.2		NM_144508		-	40915175	TA	-	40915174	7	5	6	1	0	1	0	1	0	0	0	0	2665	1509	53	0	2828	0	CASC5	15	40915174	Frame_Shift_Del	DEL	TA	TCGA-2G-AAF8-01A-11D-A42Y-10		40915174	61616218	63	359											
RFX7	64864	hgsc.bcm.edu	37	chr15	56385646	56385646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaatttgttgaaataatGggtcattctttaattcttcc	11	18	6	6	0	3	1	1	1	2	0	4	1	4	1	1	1	1	2	1	1	4	8			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr15:56385646G>T	ENST00000559447.2	-	9	4260	c.3989C>A	c.(3988-3990)cCa>cAa	p.P1330Q	RFX7_ENST00000317318.6_Intron|RFX7_ENST00000422057.1_Intron|RFX7_ENST00000423270.1_Missense_Mutation_p.P1427Q			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1330					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTGAAATAATGGGTCATTCTT	0.378																																					p.P1427Q													.	.			0			c.C4280A												117	106	110					15																	56385646		1887	4111	5998	SO:0001583	missense	64864	exon9			AATAATGGGTCAT			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3989C>A	15.37:g.56385646G>T	ENSP00000453281:p.Pro1330Gln		117	0	0		97	0.04	4	NM_022841	11	0	0	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	G	14.00	2.406229	0.42715	.	.	ENSG00000181827	ENST00000423270	T	0.68181	-0.31	5.87	5.87	0.94306	.	0.000000	0.49916	U	0.000133	T	0.69522	0.3120	L	0.29908	0.895	0.58432	D	0.999998	D	0.60575	0.988	P	0.53912	0.737	T	0.71817	-0.4478	10	0.87932	D	0	-9.1923	19.5705	0.95413	0.0:0.0:1.0:0.0	.	1330	Q2KHR2	RFX7_HUMAN	Q	1427	ENSP00000397644:P1427Q	ENSP00000397644:P1427Q	P	-	2	0	RFX7	54172938	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	5.167000	0.64972	2.941000	0.99782	0.655000	0.94253	CCA			0.378	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding		OTTHUMT00000418841.3		NM_022841		T	56385646	G	T	56385646	3	4	6	1	0	0	0	0	1	0	0	0	13291	1348	47	3	106	3	RFX7	15	56385646	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	15470472	56385646	46145746	64	360											
UBL7	84993	mdanderson.org	37	chr15	74744664	74744664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaagaggagctgctgtgCagggcagtgtgcaacacccg	9	7	15	10	1	0	1	0	0	0	1	0	2	0	2	1	2	5	6	1	2	2	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr15:74744664C>T	ENST00000567435.1	-	4	823	c.360G>A	c.(358-360)ctG>ctA	p.L120L	UBL7_ENST00000565335.1_Silent_p.L120L|UBL7_ENST00000361351.4_Silent_p.L120L|UBL7_ENST00000395081.2_Silent_p.L120L|UBL7_ENST00000564488.1_Silent_p.L120L			Q96S82	UBL7_HUMAN	ubiquitin-like 7	120										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AGCTGCTGTGCAGGGCAGTGT	0.602																																					p.L120L													.	.			0			c.G360A												49	38	42					15																	74744664		2189	4268	6457	SO:0001819	synonymous_variant	84993	exon4			GCTGTGCAGGGCA	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived ubiquitin-like", " ubiquitin-like protein SB132"	609748	"ubiquitin-like 7 (bone marrow stromal cell-derived)"			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.360G>A	15.37:g.74744664C>T			41	0	0		29	0.1	3	NM_201265	154	0	0	D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	CCDS10263.1																																																																																					0.602	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419627.1		NM_032907, NM_201265		T	74744664	C	T	74744664	2	4	6	1	0	0	0	0	0	0	0	1	16914	697	25	2		2	UBL7	15	74744664	Silent	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	18359018	74744664	27786728	65	361											
ADCY7	113	mdanderson.org	37	chr16	50338324	50338324	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcccaagggggacgcGgccctgaagatgcgggcgtc	7	3	17	14	4	0	2	0	1	0	1	1	3	0	3	3	5	1	0	3	5	2	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:50338324G>T	ENST00000394697.2	+	11	1762	c.1422G>T	c.(1420-1422)gcG>gcT	p.A474A	ADCY7_ENST00000566433.2_Silent_p.A474A|ADCY7_ENST00000538642.1_Silent_p.A474A|ADCY7_ENST00000254235.3_Silent_p.A474A|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	474					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)		AGGGGGACGCGGCCCTGAAGA	0.692																																					p.A474A													.	.			0			c.G1422T												33	33	33					16																	50338324		2198	4297	6495	SO:0001819	synonymous_variant	113	exon10			GGACGCGGCCCTG	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.1422G>T	16.37:g.50338324G>T			41	0	0		24	0.08	2	NM_001114	20	0	0	A0AVA6	Silent	SNP	ENST00000394697.2	37	CCDS10741.1																																																																																					0.692	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256877.3				T	50338324	G	T	50338324	2	4	6	1	0	0	0	0	0	0	0	1	299	1103	39	1		1	ADCY7	16	50338324	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		50338324	40016429	66	362											
AMFR	267	mdanderson.org	37	chr16	56448166	56448166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtgtagacttacctGtctctcactcactcgaagag	9	13	7	12	1	4	2	3	0	1	2	6	3	4	2	1	0	1	1	1	0	3	3			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:56448166G>T	ENST00000290649.5	-	2	556	c.346C>A	c.(346-348)Cag>Aag	p.Q116K	AMFR_ENST00000564283.1_5'Flank|RP11-413H22.2_ENST00000563090.1_RNA	NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	116					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						AGACTTACCTGTCTCTCACTC	0.373																																					p.Q116K	Pancreas(2;144 323 39528)												.	.			0			c.C346A												165	152	156					16																	56448166		2198	4300	6498	SO:0001583	missense	267	exon2			TTACCTGTCTCTC	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.346C>A	16.37:g.56448166G>T	ENSP00000290649:p.Gln116Lys		68	0	0		40	0.08	3	NM_001144	21	0	0	P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589616	0.86851	.	.	ENSG00000159461	ENST00000290649	T	0.15952	2.38	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	M	0.74647	2.275	0.80722	D	1	B	0.32731	0.382	B	0.32465	0.146	T	0.04255	-1.0965	10	0.46703	T	0.11	-20.2509	18.989	0.92783	0.0:0.0:1.0:0.0	.	116	Q9UKV5	AMFR2_HUMAN	K	116	ENSP00000290649:Q116K	ENSP00000290649:Q116K	Q	-	1	0	AMFR	55005667	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.640000	0.98453	2.479000	0.83701	0.563000	0.77884	CAG			0.373	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256978.2				T	56448166	G	T	56448166	3	4	6	1	0	0	0	0	1	0	0	0	571	1386	48	3	1637	3	AMFR	16	56448166	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	6109842	56448166	33906587	67	363											
CNOT1	23019	mdanderson.org	37	chr16	58577329	58577329	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacagaaaaaaaaaaaaaCacacagacatgatgctttgc	23	6	5	7	0	0	3	0	1	0	2	0	3	0	3	0	0	4	1	0	0	7	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:58577329C>A	ENST00000317147.5	-	31	4767				CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.C1539F	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						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)		aaaaaaaaaacacacagacat	0.299																																					p.C1539F													.	.			0			c.G4616T												22	22	22					16																	58577329		1016	2124	3140	SO:0001627	intron_variant	23019	exon31			AAAAAACACACAG	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.4434+181G>T	16.37:g.58577329C>A			138	0.0724637681	10		132	0.13	17	NM_206999	4	0	0	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.783986	0.00004	.	.	ENSG00000125107	ENST00000441024	T	0.45668	0.89	0.113	-0.226	0.13106	.	.	.	.	.	T	0.34483	0.0899	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36480	-0.9746	5	0.87932	D	0	.	.	.	.	.	1539	A5YKK6-4	.	F	1539	ENSP00000413113:C1539F	ENSP00000413113:C1539F	C	-	2	0	CNOT1	57134830	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.732000	0.04904	-1.282000	0.02396	-1.292000	0.01352	TGT			0.299	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257385.3		NM_016284		A	58577329	C	A	58577329	1	1	6	0	1	0	0	0	0	0	0	0	3619	478	17	3		3	CNOT1	16	58577329	Intron	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	2129163	58577329	31777424	68	364											
KCTD19	146212	mdanderson.org	37	chr16	67333331	67333331	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtctagcgtgctctcGatgcgaagctggcccagcgc	5	9	12	15	5	2	0	0	0	2	0	4	2	3	0	2	1	5	2	2	1	2	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:67333331G>T	ENST00000304372.5	-	6	976	c.921C>A	c.(919-921)atC>atA	p.I307I	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	307					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCGTGCTCTCGATGCGAAGCT	0.607																																					p.I307I													KCTD19,NS,carcinoma,0,1	KCTD19	0	1	0			c.C921A												89	96	94					16																	67333331		2096	4217	6313	SO:0001819	synonymous_variant	146212	exon6			GCTCTCGATGCGA	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.921C>A	16.37:g.67333331G>T			95	0	0		39	0.08	3	NM_001100915	1	0	0	B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	CCDS42179.1																																																																																					0.607	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422061.1		XM_085367		T	67333331	G	T	67333331	2	4	6	1	0	0	0	0	0	0	0	1	8121	1048	37	1		1	KCTD19	16	67333331	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	8756002	67333331	23021422	69	365											
GLG1	2734	mdanderson.org	37	chr16	74516992	74516992	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaccatcttctctgtGtataaatgttccatcaggca	9	16	5	11	0	5	0	1	0	4	0	7	0	6	0	2	1	1	3	2	1	4	6	rs370503981		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr16:74516992G>T	ENST00000422840.2	-	10	1601	c.1602C>A	c.(1600-1602)taC>taA	p.Y534*	GLG1_ENST00000447066.2_Nonsense_Mutation_p.Y523*|GLG1_ENST00000205061.5_Nonsense_Mutation_p.Y534*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	534					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						TCTTCTCTGTGTATAAATGTT	0.383																																					p.Y534X													.	.			0			c.C1602A												131	127	128					16																	74516992		2198	4300	6498	SO:0001587	stop_gained	2734	exon10			CTCTGTGTATAAA		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.1602C>A	16.37:g.74516992G>T	ENSP00000405984:p.Tyr534*		47	0	0		19	0.16	3	NM_001145667	123	0	0	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Nonsense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	36	5.885496	0.97068	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.03	0.626	0.17670	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4664	10.6853	0.45839	0.4131:0.0:0.5869:0.0	.	.	.	.	X	534;523;534	.	ENSP00000205061:Y534X	Y	-	3	2	GLG1	73074493	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	4.059000	0.57470	-0.082000	0.12640	-0.302000	0.09304	TAC			0.383	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000435750.1		NM_012201		T	74516992	G	T	74516992	4	4	6	1	0	0	0	0	0	1	0	0	6450	1372	48	3	2085	3	GLG1	16	74516992	Nonsense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	7183661	74516992	15837761	70	366											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		195	0.0358974359	7		213	0.07	14	NM_145301	58	0.28	16	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	6	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10		15457087	65738123	71	367											
SREBF1	6720	mdanderson.org	37	chr17	17716712	17716712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggggcctgcccgccgccTcagactgcggtcgaggagct	5	5	15	16	5	1	1	1	0	0	1	2	3	1	2	5	4	3	1	5	4	0	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:17716712T>C	ENST00000261646.5	-	18	3368	c.3184A>G	c.(3184-3186)Agg>Ggg	p.R1062G	SREBF1_ENST00000395757.1_Missense_Mutation_p.R808G|SREBF1_ENST00000355815.4_Missense_Mutation_p.R1092G|SREBF1_ENST00000338854.5_Intron|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1062					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						GCCCGCCGCCTCAGACTGCGG	0.682																																					p.R1092G													.	.			0			c.A3274G												15	18	17					17																	17716712		2190	4295	6485	SO:0001583	missense	6720	exon19			GCCGCCTCAGACT	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.3184A>G	17.37:g.17716712T>C	ENSP00000261646:p.Arg1062Gly		32	0	0		26	0.12	3	NM_001005291	123	0	0	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.77|17.77	3.472046|3.472046	0.63737|0.63737	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	.|T;T;T	.|0.12774	.|2.65;2.65;2.65	5.33|5.33	-0.0582|-0.0582	0.13798|0.13798	.|.	.|0.122542	.|0.51477	.|D	.|0.000098	T|T	0.39682|0.39682	0.1087|0.1087	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.991;0.995;1.0	.|P;D;D	.|0.76071	.|0.86;0.939;0.987	T|T	0.53092|0.53092	-0.8487|-0.8487	5|10	.|0.87932	.|D	.|0	-25.3258|-25.3258	16.2646|16.2646	0.82568|0.82568	0.0:0.0:0.7257:0.2743|0.0:0.0:0.7257:0.2743	.|.	.|1062;1092;681	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	G|G	1069|1092;1062;808;681;899;988	.|ENSP00000348069:R1092G;ENSP00000261646:R1062G;ENSP00000379106:R808G	.|ENSP00000261646:R1062G	E|R	-|-	2|1	0|2	SREBF1|SREBF1	17657437|17657437	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.263000|0.263000	0.26337|0.26337	1.755000|1.755000	0.38379|0.38379	-0.015000|-0.015000	0.14150|0.14150	0.459000|0.459000	0.35465|0.35465	GAG|AGG			0.682	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131771.1		NM_004176		C	17716712	T	C	17716712	3	2	6	1	0	0	0	0	1	0	0	0	15164	1550	54	4	267	4	SREBF1	17	17716712	Missense_Mutation	SNP	T	TCGA-2G-AAF8-01A-11D-A42Y-10	2259625	17716712	63478498	72	368											
PLCD3	113026	mdanderson.org	37	chr17	43194020	43194020	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggggatggcagctcctcGggatttggggagtccagcgc	5	9	17	10	2	1	0	0	0	1	0	4	3	3	3	2	6	2	2	2	6	0	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:43194020G>T	ENST00000322765.5	-	8	1505	c.1392C>A	c.(1390-1392)ccC>ccA	p.P464P	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	464	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				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						GCAGCTCCTCGGGATTTGGGG	0.687																																					.													PLCD3_ENST00000322765,NS,carcinoma,0,2	PLCD3_ENST00000322765	0	2	0			.												38	44	42					17																	43194020		2075	4198	6273	SO:0001819	synonymous_variant	113026	.			CTCCTCGGGATTT	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.1392C>A	17.37:g.43194020G>T			63	0	0		47	0.06	3	.	30	0	0	Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37																																																																																						0.687	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_133373		T	43194020	G	T	43194020	2	4	6	1	0	0	0	0	0	0	0	1	12049	1103	39	1		1	PLCD3	17	43194020	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	25477308	43194020	38001190	73	369											
SP6	80320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	45925774	45925774	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgctggctgcccagagAgccgcagacagcggttagca	8	6	15	12	3	0	2	0	0	0	2	0	3	0	2	2	2	5	5	2	2	1	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:45925774A>C	ENST00000536300.1	-	2	353	c.22T>G	c.(22-24)Tct>Gct	p.S8A	SP6_ENST00000342234.2_Missense_Mutation_p.S8A	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	8					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|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(1)|lung(5)|prostate(1)|skin(1)	8						CTGCCCAGAGAGCCGCAGACA	0.687																																					p.S8A													.	.			0			c.T22G												4	5	5					17																	45925774		2116	4153	6269	SO:0001583	missense	80320	exon2			CCAGAGAGCCGCA		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.22T>G	17.37:g.45925774A>C	ENSP00000438209:p.Ser8Ala		64	0	0		45	0.33	15	NM_001258248	2	0	0	B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967382	0.53507	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.10192	2.9;2.9	4.29	4.29	0.51040	.	0.000000	0.41712	D	0.000831	T	0.05456	0.0144	N	0.08118	0	0.26568	N	0.973613	P	0.36222	0.544	B	0.28385	0.089	T	0.26467	-1.0102	10	0.62326	D	0.03	.	12.5427	0.56182	1.0:0.0:0.0:0.0	.	8	Q3SY56	SP6_HUMAN	A	8	ENSP00000340799:S8A;ENSP00000438209:S8A	ENSP00000340799:S8A	S	-	1	0	SP6	43280773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.614000	0.46359	1.791000	0.52520	0.379000	0.24179	TCT			0.687	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441395.1		NM_199262		C	45925774	A	C	45925774	3	2	6	1	0	0	0	0	1	0	0	0	14991	304	11	4	1112	4	SP6	17	45925774	Missense_Mutation	SNP	A	TCGA-2G-AAF8-01A-11D-A42Y-10	2731754	45925774	35269436	74	370											
PDK2	5164	mdanderson.org	37	chr17	48186690	48186690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatttcccgcctctacGccaagtacttccagggagac	8	9	7	17	2	1	1	0	0	1	1	4	2	4	1	6	1	2	1	6	1	3	4			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:48186690G>T	ENST00000503176.1	+	10	1170	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	PDK2_ENST00000007708.3_Missense_Mutation_p.A273S	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	337	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CCGCCTCTACGCCAAGTACTT	0.617									Autosomal Dominant Polycystic Kidney Disease																												p.A337S													.	.			0			c.G1009T												72	58	63					17																	48186690		2203	4300	6503	SO:0001583	missense	5164	exon10	Familial Cancer Database	ADPKD	CTCTACGCCAAGT	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"pyruvate dehydrogenase kinase, isoenzyme 2"			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.1009G>T	17.37:g.48186690G>T	ENSP00000420927:p.Ala337Ser		53	0	0		43	0.07	3	NM_002611	28	0	0	A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226540	0.95173	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.55760	0.5;0.5	4.85	4.85	0.62838	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.065111	0.64402	D	0.000012	T	0.79381	0.4436	M	0.92412	3.305	0.80722	D	1	D	0.64830	0.994	D	0.83275	0.996	D	0.85068	0.0938	10	0.87932	D	0	-31.4669	17.1039	0.86657	0.0:0.0:1.0:0.0	.	337	Q15119	PDK2_HUMAN	S	273;337	ENSP00000007708:A273S;ENSP00000420927:A337S	ENSP00000007708:A273S	A	+	1	0	PDK2	45541689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.659000	0.98597	2.401000	0.81631	0.462000	0.41574	GCC			0.617	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366492.2		NM_002611		T	48186690	G	T	48186690	3	4	6	1	0	0	0	0	1	0	0	0	11693	1087	38	1	1047	1	PDK2	17	48186690	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	2260916	48186690	33008520	75	371											
CACNA1G	8913	mdanderson.org	37	chr17	48638948	48638948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaaaggacccgggcaGcgcggactccgaggcggagg	11	1	18	11	5	0	1	0	0	0	1	1	5	1	4	2	6	2	2	2	6	2	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:48638948G>T	ENST00000359106.5	+	1	128	c.128G>T	c.(127-129)aGc>aTc	p.S43I	CACNA1G_ENST00000429973.2_Missense_Mutation_p.S43I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S43I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S43I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S43I|CACNA1G-AS1_ENST00000505793.1_RNA|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S43I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S43I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S43I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S43I|CACNA1G-AS1_ENST00000505495.1_RNA|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S43I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S43I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S43I|RP11-94C24.11_ENST00000513378.1_RNA|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S43I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S43I|CACNA1G-AS1_ENST00000508920.1_RNA	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	43					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)	GACCCGGGCAGCGCGGACTCC	0.736																																					p.S43I													.	.			0			c.G128T												4	5	5					17																	48638948		1660	3765	5425	SO:0001583	missense	8913	exon1			CGGGCAGCGCGGA	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.128G>T	17.37:g.48638948G>T	ENSP00000352011:p.Ser43Ile		14	0	0		13	0.15	2	NM_198387	1	0	0	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	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	13.67	2.307369	0.40795	.	.	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	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	0.96992	-4.05;-4.05;-4.2;-3.99;-4.05;-4.04;-4.07;-4.14;-4.12;-4.13;-4.14;-4.01;-4.02;-4.08;-4.03;-3.99;-4.07;-4.03;-4.01;-4.07;-4.04;-4.02;-4.07;-4.01;-4.07;-4.07	2.76	2.76	0.32466	.	1.857770	0.03440	N	0.209238	D	0.96024	0.8705	L	0.29908	0.895	0.38898	D	0.957257	P;D;P;D;P;D;P;P;B;D;D;P;B;P;D	0.76494	0.637;0.994;0.768;0.999;0.504;0.997;0.822;0.504;0.384;0.996;0.99;0.602;0.017;0.666;0.998	P;P;B;D;B;P;B;B;B;D;D;B;B;B;D	0.76575	0.511;0.759;0.256;0.988;0.165;0.899;0.268;0.313;0.088;0.974;0.929;0.196;0.013;0.092;0.953	D	0.92265	0.5820	10	0.22706	T	0.39	.	5.6868	0.17807	0.147:0.0:0.853:0.0	.	43;43;43;43;43;43;43;43;43;43;43;43;43;43;43	O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	I	43	ENSP00000353990:S43I;ENSP00000339302:S43I;ENSP00000392390:S43I;ENSP00000347078:S43I;ENSP00000409759:S43I;ENSP00000425522:S43I;ENSP00000426261:S43I;ENSP00000425451:S43I;ENSP00000422407:S43I;ENSP00000426814:S43I;ENSP00000427238:S43I;ENSP00000423112:S43I;ENSP00000420918:S43I;ENSP00000426172:S43I;ENSP00000423045:S43I;ENSP00000427173:S43I;ENSP00000426098:S43I;ENSP00000425698:S43I;ENSP00000426232:S43I;ENSP00000423317:S43I;ENSP00000350979:S43I;ENSP00000352011:S43I;ENSP00000414388:S43I;ENSP00000423155:S43I;ENSP00000422268:S43I;ENSP00000421518:S43I	ENSP00000339302:S43I	S	+	2	0	CACNA1G	45993947	.	.	1.000000	0.80357	0.939000	0.58152	.	.	1.854000	0.53819	0.462000	0.41574	AGC			0.736	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000367895.1		NM_018896		T	48638948	G	T	48638948	3	4	6	1	0	0	0	0	1	0	0	0	2546	971	34	2	130	2	CACNA1G	17	48638948	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	452258	48638948	32556262	76	372											
MRC2	9902	mdanderson.org	37	chr17	60758222	60758222	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgagcaccactccacGtgggcgcaggcgcagcgcat	7	8	12	14	4	1	1	0	1	1	0	2	1	2	1	2	2	2	4	2	2	0	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:60758222G>T	ENST00000303375.5	+	17	2937	c.2535G>T	c.(2533-2535)acG>acT	p.T845T	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	845	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCACTCCACGTGGGCGCAGG	0.667																																					p.T845T													.	.			0			c.G2535T												26	25	25					17																	60758222		2202	4299	6501	SO:0001819	synonymous_variant	9902	exon17			CTCCACGTGGGCG	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2535G>T	17.37:g.60758222G>T			52	0	0		35	0.09	3	NM_006039	38	0	0	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	CCDS11634.1																																																																																					0.667	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445152.1				T	60758222	G	T	60758222	2	4	6	1	0	0	0	0	0	0	0	1	9774	1132	40	1		1	MRC2	17	60758222	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	12119274	60758222	20436988	77	373											
HGS	9146	mdanderson.org	37	chr17	79660778	79660778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggcggaggagaaggagaGgctggtaagccgggtggggc	10	3	23	5	2	0	3	0	0	0	3	0	6	0	4	1	9	1	2	1	9	2	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:79660778G>T	ENST00000329138.4	+	10	971	c.836G>T	c.(835-837)aGg>aTg	p.R279M		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	279	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GAGAAGGAGAGGCTGGTAAGC	0.716																																					p.R279M													.	.			0			c.G836T												5	6	6					17																	79660778		2116	4150	6266	SO:0001583	missense	9146	exon10			AGGAGAGGCTGGT	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.836G>T	17.37:g.79660778G>T	ENSP00000331201:p.Arg279Met		35	0	0		21	0.1	2	NM_004712	84	0	0	Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600704	0.87055	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.43688	0.94	4.39	3.41	0.39046	.	0.164157	0.49916	D	0.000127	T	0.59445	0.2194	M	0.76002	2.32	0.58432	D	0.999991	D	0.76494	0.999	D	0.64144	0.922	T	0.63143	-0.6703	10	0.72032	D	0.01	-30.8784	11.2441	0.48987	0.09:0.0:0.91:0.0	.	279	O14964	HGS_HUMAN	M	279	ENSP00000331201:R279M	ENSP00000331201:R279M	R	+	2	0	HGS	77271183	1.000000	0.71417	0.979000	0.43373	0.988000	0.76386	9.057000	0.93889	0.953000	0.37825	0.655000	0.94253	AGG			0.716	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440541.1		NM_004712		T	79660778	G	T	79660778	3	4	6	1	0	0	0	0	1	0	0	0	7102	1000	35	3	874	3	HGS	17	79660778	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	18902556	79660778	1534432	78	374											
CCDC57	284001	mdanderson.org	37	chr17	80129588	80129588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacttaccagtcgtctctGtcgaggtgcggacgctgggc	5	9	15	12	5	1	0	0	0	1	0	4	3	1	2	1	4	2	1	1	4	1	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr17:80129588G>T	ENST00000389641.4	-	12	1907	c.1871C>A	c.(1870-1872)aCa>aAa	p.T624K	CCDC57_ENST00000392343.3_Missense_Mutation_p.T624K|CCDC57_ENST00000392347.1_Missense_Mutation_p.T624K|CCDC57_ENST00000327026.3_5'UTR			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	624										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGTCGTCTCTGTCGAGGTGCG	0.478																																					p.T624K													.	.			0			c.C1871A												87	88	88					17																	80129588		1935	4137	6072	SO:0001583	missense	284001	exon12			GTCTCTGTCGAGG	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1871C>A	17.37:g.80129588G>T	ENSP00000374292:p.Thr624Lys		31	0	0		41	0.07	3	NM_198082	8	0	0	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.	.	.	.	.	.	.	.	.	.	G	9.246	1.039609	0.19669	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.20332	3.24;3.24;2.08	3.14	2.13	0.27403	.	2.008220	0.02779	N	0.120604	T	0.20007	0.0481	L	0.44542	1.39	0.09310	N	0.999996	B;P	0.42518	0.103;0.782	B;B	0.37144	0.039;0.242	T	0.26087	-1.0113	10	0.46703	T	0.11	0.2074	7.3722	0.26808	0.0:0.0:0.7149:0.2851	.	624;624	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	K	624;624;132;624	ENSP00000374292:T624K;ENSP00000376158:T624K;ENSP00000376154:T624K	ENSP00000315967:T132K	T	-	2	0	CCDC57	77722877	0.002000	0.14202	0.007000	0.13788	0.030000	0.12068	1.200000	0.32247	0.833000	0.34828	0.561000	0.74099	ACA			0.478	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000277182.3		NM_198082		T	80129588	G	T	80129588	3	4	6	1	0	0	0	0	1	0	0	0	2829	1377	48	3	900	3	CCDC57	17	80129588	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	468810	80129588	1065622	79	375											
MYOM1	8736	mdanderson.org	37	chr18	3173970	3173970	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagccccagcgtggaaGcgagtctcatcaaactctcc	10	7	11	13	2	3	0	2	0	2	0	5	3	3	2	3	2	4	0	3	2	3	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr18:3173970G>T	ENST00000356443.4	-	8	1473	c.1140C>A	c.(1138-1140)cgC>cgA	p.R380R	MYOM1_ENST00000400569.3_Silent_p.R380R|MYOM1_ENST00000261606.7_Silent_p.R380R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	380					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						CAGCGTGGAAGCGAGTCTCAT	0.398																																					p.R380R													.	.			0			c.C1140A												84	81	82					18																	3173970		1864	4106	5970	SO:0001819	synonymous_variant	8736	exon8			GTGGAAGCGAGTC	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.1140C>A	18.37:g.3173970G>T			64	0	0		42	0.07	3	NM_003803	2	0	0	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																					0.398	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000441037.2		NM_003803		T	3173970	G	T	3173970	2	4	6	1	0	0	0	0	0	0	0	1	10107	958	34	2		2	MYOM1	18	3173970	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		3173970	74903278	80	376											
ANKRD12	23253	mdanderson.org	37	chr18	9204531	9204531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacttatatcttcttacaGgacatactcaggtaattaga	14	13	7	7	0	3	2	1	0	2	2	3	4	3	3	0	2	2	1	0	2	6	7			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr18:9204531G>T	ENST00000262126.4	+	4	533	c.293G>T	c.(292-294)aGg>aTg	p.R98M	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Intron|ANKRD12_ENST00000400020.3_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	98						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCTTCTTACAGGACATACTCA	0.363																																					p.R98M													.	.			0			c.G293T												75	73	73					18																	9204531		2203	4300	6503	SO:0001583	missense	23253	exon4			CTTACAGGACATA	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.293G>T	18.37:g.9204531G>T	ENSP00000262126:p.Arg98Met		51	0	0		23	0.09	2	NM_015208	1	0	0	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303835	0.81136	.	.	ENSG00000101745	ENST00000262126;ENST00000540578	T	0.05649	3.41	5.64	5.64	0.86602	.	0.052935	0.85682	D	0.000000	T	0.19725	0.0474	L	0.47716	1.5	0.80722	D	1	P;D	0.89917	0.94;1.0	P;D	0.64042	0.459;0.921	T	0.00048	-1.2204	10	0.87932	D	0	-6.3314	19.2882	0.94087	0.0:0.0:1.0:0.0	.	98;98	Q6PG48;Q6UB98	.;ANR12_HUMAN	M	98	ENSP00000262126:R98M	ENSP00000262126:R98M	R	+	2	0	ANKRD12	9194531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.709000	0.91379	2.664000	0.90586	0.655000	0.94253	AGG			0.363	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254478.2		NM_015208		T	9204531	G	T	9204531	3	4	6	1	0	0	0	0	1	0	0	0	640	1000	35	3	303	3	ANKRD12	18	9204531	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	6030561	9204531	68872717	81	377											
TNPO2	30000	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12816532	12816532	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtccttgtcttcgtccttGagctcattccacttctggat	5	16	8	12	1	3	1	1	1	2	0	7	2	6	2	3	2	1	1	3	2	0	5			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:12816532G>C	ENST00000592287.1	-	15	1827	c.1719C>G	c.(1717-1719)ctC>ctG	p.L573L	TNPO2_ENST00000450764.2_Silent_p.L573L|TNPO2_ENST00000588216.1_Silent_p.L573L|TNPO2_ENST00000425528.1_Silent_p.L573L|TNPO2_ENST00000441499.1_Silent_p.L573L|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000356861.5_Silent_p.L573L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	573					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCGTCCTTGAGCTCATTCC	0.617																																					p.L573L													.	TNPO2	108		0			c.C1719G												33	35	34					19																	12816532		2105	4177	6282	SO:0001819	synonymous_variant	30000	exon15			GTCCTTGAGCTCA	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1719C>G	19.37:g.12816532G>C			97	0.0103092784	1		78	0.09	7	NM_013433	128	0.13	16	O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	CCDS45991.1																																																																																					0.617	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000450785.1		NM_013433		C	12816532	G	C	12816532	2	2	6	1	0	0	0	0	0	0	0	1	16359	1277	45	5		5	TNPO2	19	12816532	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		12816532	46312451	82	378											
ILVBL	10994	mdanderson.org	37	chr19	15233976	15233976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaggattggggactgaGccatctgagcattcttcacc	10	9	12	10	0	3	2	1	2	2	0	3	5	3	4	2	3	3	2	2	3	1	3			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:15233976G>A	ENST00000263383.3	-	4	555	c.416C>T	c.(415-417)gCt>gTt	p.A139V	ILVBL_ENST00000534378.1_Missense_Mutation_p.A32V|AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	139						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGGGGACTGAGCCATCTGAGC	0.647																																					p.A139V													.	.			0			c.C416T												90	89	89					19																	15233976		2203	4300	6503	SO:0001583	missense	10994	exon4			GACTGAGCCATCT	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.416C>T	19.37:g.15233976G>A	ENSP00000263383:p.Ala139Val		55	0	0		29	0.1	3	NM_006844	36	0	0	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257338	0.59321	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.33216	1.42	4.52	3.46	0.39613	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.103230	0.64402	D	0.000003	T	0.61837	0.2379	M	0.92604	3.325	0.51012	D	0.999904	D	0.89917	1.0	D	0.97110	1.0	T	0.67879	-0.5556	10	0.44086	T	0.13	-14.4499	12.297	0.54854	0.0:0.1725:0.8275:0.0	.	139	A1L0T0	ILVBL_HUMAN	V	139	ENSP00000263383:A139V	ENSP00000263383:A139V	A	-	2	0	ILVBL	15094976	1.000000	0.71417	0.771000	0.31576	0.148000	0.21650	9.374000	0.97172	0.892000	0.36259	0.462000	0.41574	GCT			0.647	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385439.1		NM_006844		A	15233976	G	A	15233976	3	1	6	1	0	0	0	0	1	0	0	0	7730	971	34	2	1534	2	ILVBL	19	15233976	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	2417444	15233976	43895007	83	379											
ATP4A	495	mdanderson.org	37	chr19	36041523	36041523	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcagtcgtccctctaataGtagagttcctggtcccacca	9	10	9	13	1	1	1	0	0	1	1	5	1	4	1	4	2	0	3	4	2	3	4			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:36041523G>T	ENST00000262623.3	-	22	3130	c.3102C>A	c.(3100-3102)taC>taA	p.Y1034*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	1034					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)	CCCTCTAATAGTAGAGTTCCT	0.607																																					p.Y1034X													.	.			0			c.C3102A												60	56	58					19																	36041523		2203	4300	6503	SO:0001587	stop_gained	495	exon22			CTAATAGTAGAGT		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.3102C>A	19.37:g.36041523G>T	ENSP00000262623:p.Tyr1034*		60	0	0		32	0.09	3	NM_000704	2	0	0	O00738	Nonsense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	38	6.938771	0.97948	.	.	ENSG00000105675	ENST00000262623	.	.	.	4.94	0.32	0.15878	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.20703	N	0.999867	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1948	0.31389	0.3733:0.0:0.6267:0.0	.	.	.	.	X	1034	.	ENSP00000262623:Y1034X	Y	-	3	2	ATP4A	40733363	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	1.535000	0.36061	0.283000	0.22279	0.486000	0.48141	TAC			0.607	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109470.2		NM_000704		T	36041523	G	T	36041523	4	4	6	1	0	0	0	0	0	1	0	0	1145	1024	36	3	9	3	ATP4A	19	36041523	Nonsense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	20807547	36041523	23087460	84	380											
TMEM149	79713	mdanderson.org	37	chr19	36230690	36230690	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggggaggacagatgcgaGgaggaaggggtgtgggtgtt	8	7	22	4	1	0	1	0	0	0	1	0	6	0	5	1	8	1	1	1	8	1	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:36230690G>T	ENST00000592537.1	-	4	742	c.642C>A	c.(640-642)tcC>tcA	p.S214S	IGFLR1_ENST00000246532.1_Silent_p.S214S|IGFLR1_ENST00000588992.1_Intron|AD000671.6_ENST00000589807.1_3'UTR|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000587101.1_5'Flank			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						ACAGATGCGAGGAGGAAGGGG	0.617																																					p.S214S													.	.			0			c.C642A												82	91	88					19																	36230690		2203	4300	6503	SO:0001819	synonymous_variant	79713	exon4			ATGCGAGGAGGAA	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.642C>A	19.37:g.36230690G>T			62	0	0		45	0.07	3	NM_024660	101	0	0	Q8N5X0	Silent	SNP	ENST00000592537.1	37	CCDS12472.1																																																																																					0.617	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459077.1		NM_024660		T	36230690	G	T	36230690	2	4	6	1	0	0	0	0	0	0	0	1	16085	987	35	3		3	TMEM149	19	36230690	Silent	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	189167	36230690	22898293	85	381											
PRR19	284338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42814216	42814216	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgagtttgccacaggcCttcccccggaggaacctgat	8	8	11	14	1	0	2	0	2	0	0	1	4	1	4	5	3	3	2	5	3	1	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:42814216C>G	ENST00000499536.2	+	1	1291	c.480C>G	c.(478-480)gcC>gcG	p.A160A	PRR19_ENST00000598490.1_Silent_p.A160A|PRR19_ENST00000341747.3_Silent_p.A160A			A6NJB7	PRR19_HUMAN	proline rich 19	160										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGCCACAGGCCTTCCCCCGGA	0.637																																					p.A160A													.	.			0			c.C480G												49	49	49					19																	42814216		2203	4300	6503	SO:0001819	synonymous_variant	284338	exon2			ACAGGCCTTCCCC	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.480C>G	19.37:g.42814216C>G			77	0	0		38	0.13	5	NM_199285	15	0.2	3	A8K663|B3KW48|Q6P584	Silent	SNP	ENST00000499536.2	37	CCDS33036.1																																																																																					0.637	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463735.1		NM_199285		G	42814216	C	G	42814216	2	3	6	1	0	0	0	0	0	0	0	1	12611	668	24	5		5	PRR19	19	42814216	Silent	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	6583526	42814216	16314767	86	382											
PPP1R12C	54776	mdanderson.org	37	chr19	55606890	55606890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctccctccgctgtccGcctttcagggggacccaggg	4	7	15	15	2	1	0	1	0	0	0	4	1	4	1	5	5	0	2	5	5	0	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:55606890G>A	ENST00000263433.3	-	10	1324	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R363W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R437W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCGCTGTCCGCCTTTCAGGG	0.672																																					p.R437W													.	.			0			c.C1309T												9	12	11					19																	55606890		2189	4289	6478	SO:0001583	missense	54776	exon10			CTGTCCGCCTTTC	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1309C>T	19.37:g.55606890G>A	ENSP00000263433:p.Arg437Trp		104	0	0		76	0.05	4	NM_017607	180	0	0		Missense_Mutation	SNP	ENST00000263433.3	37	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	G	5.002	0.186081	0.09495	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.68765	-0.19;-0.19;-0.35	3.95	-2.87	0.05700	.	1.643890	0.03568	N	0.228085	T	0.48909	0.1526	N	0.21448	0.665	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37407	-0.9707	10	0.56958	D	0.05	.	3.7467	0.08551	0.4825:0.0:0.3344:0.1831	.	363;436;437	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	W	437;437;363	ENSP00000263433:R437W;ENSP00000365573:R437W;ENSP00000387833:R363W	ENSP00000263433:R437W	R	-	1	2	PPP1R12C	60298702	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.016000	0.13377	-0.284000	0.09102	-0.275000	0.10095	CGG			0.672	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451814.2		NM_017607		A	55606890	G	A	55606890	3	1	6	1	0	0	0	0	1	0	0	0	12376	1086	38	1	1091	1	PPP1R12C	19	55606890	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	12792674	55606890	3522093	87	383											
ZNF628	89887	mdanderson.org	37	chr19	55995439	55995439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtagaaacacttcctcctgGgctgacggagccgcctgcca	8	7	12	14	2	0	2	0	1	0	1	2	3	2	3	5	3	3	2	5	3	2	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:55995439G>T	ENST00000598519.1	+	3	3432	c.2879G>T	c.(2878-2880)gGg>gTg	p.G960V	ZNF628_ENST00000391718.2_Missense_Mutation_p.G956V|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	960					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTTCCTCCTGGGCTGACGGAG	0.647																																					p.G960V													.	.			0			c.G2879T												32	20	24					19																	55995439		2196	4287	6483	SO:0001583	missense	89887	exon3			CTCCTGGGCTGAC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2879G>T	19.37:g.55995439G>T	ENSP00000469591:p.Gly960Val		44	0	0		37	0.08	3	NM_033113	29	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	6.943	0.543757	0.13312	.	.	ENSG00000197483	ENST00000391718	T	0.08458	3.09	3.84	2.78	0.32641	.	0.338736	0.21579	U	0.072269	T	0.08492	0.0211	N	0.19112	0.55	0.09310	N	0.999992	D	0.59357	0.985	P	0.51974	0.686	T	0.11941	-1.0567	10	0.87932	D	0	-12.8686	6.6513	0.22963	0.1344:0.0:0.8656:0.0	.	956	Q5EBL2	ZN628_HUMAN	V	956	ENSP00000375598:G956V	ENSP00000375598:G956V	G	+	2	0	ZNF628	60687251	0.269000	0.24143	0.040000	0.18447	0.160000	0.22226	0.687000	0.25407	1.873000	0.54277	0.289000	0.19496	GGG			0.647	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317934.2		XM_058964		T	55995439	G	T	55995439	3	4	6	1	0	0	0	0	1	0	0	0	18075	1232	43	3	2869	3	ZNF628	19	55995439	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	388549	55995439	3133544	88	384											
ZNF814	730051	bcgsc.ca	37	chr19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattctccacattcatAaggtcttttcccagtgtgaa	10	13	5	13	0	3	1	1	1	2	0	5	1	4	1	3	1	0	0	3	1	2	5			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	324					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCACATTCATAAGGTCTTTTC	0.358																																					p.Y324H													.	ZNF814	93		0			c.T970C												15	12	13					19																	58385788		688	1564	2252	SO:0001583	missense	730051	exon3			ATTCATAAGGTCT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.970T>C	19.37:g.58385788A>G	ENSP00000410545:p.Tyr324His		103	0	0		118	0.07	8	NM_001144989	8	0	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.644	0.896732	0.17686	.	.	ENSG00000204514	ENST00000435989	T	0.21734	1.99	2.27	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.33485	1.01	0.09310	N	1	B	0.27498	0.18	B	0.22386	0.039	T	0.24368	-1.0162	9	0.72032	D	0.01	.	7.1587	0.25652	0.6135:0.0:0.3865:0.0	.	324	B7Z6K7	ZN814_HUMAN	H	324	ENSP00000410545:Y324H	ENSP00000410545:Y324H	Y	-	1	0	ZNF814	63077600	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.130000	0.15850	-0.181000	0.10619	0.113000	0.15668	TAT			0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708		G	58385788	A	G	58385788	3	3	6	1	0	0	0	0	1	0	0	0	18199	362	13	4	1601	4	ZNF814	19	58385788	Missense_Mutation	SNP	A	TCGA-2G-AAF8-01A-11D-A42Y-10	2390349	58385788	743195	89	385											
C20orf117	140710	bcgsc.ca	37	chr20	35422416	35422416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctccagtgagccggagcGcatggcctggcgcacacagt	7	6	13	15	3	1	1	0	1	1	0	2	2	1	2	4	3	2	2	4	3	0	0	rs377708865		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:35422416G>T	ENST00000357779.3	-	14	3681	c.3355C>A	c.(3355-3357)Cgc>Agc	p.R1119S	SOGA1_ENST00000456801.2_Missense_Mutation_p.R960S|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Missense_Mutation_p.R1357S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1119					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GAGCCGGAGCGCATGGCCTGG	0.622																																					p.R1357S													.	SOGA1	136		0			c.C4069A												82	65	70					20																	35422416		692	1591	2283	SO:0001583	missense	140710	exon14			CGGAGCGCATGGC	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.3355C>A	20.37:g.35422416G>T	ENSP00000350424:p.Arg1119Ser		100	0	0		55	0.07	4	NM_080627	16	0	0	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.139049	0.77775	.	.	ENSG00000149639	ENST00000237536;ENST00000456801;ENST00000357779	T;T;T	0.27557	1.66;1.66;1.66	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.68952	2.095	0.80722	D	1	.	.	.	.	.	.	T	0.31052	-0.9957	8	0.34782	T	0.22	-28.9008	17.5377	0.87837	0.0:0.0:1.0:0.0	.	.	.	.	S	1357;960;1119	ENSP00000237536:R1357S;ENSP00000413886:R960S;ENSP00000350424:R1119S	ENSP00000237536:R1357S	R	-	1	0	KIAA0889	34855830	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.808000	0.86044	2.671000	0.90904	0.655000	0.94253	CGC			0.622	SOGA1-201	KNOWN	basic	protein_coding	protein_coding				NM_199181		T	35422416	G	T	35422416	3	4	6	1	0	0	0	0	1	0	0	0	2085	1087	38	1	986	1	C20orf117	20	35422416	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		35422416	27603104	90	386											
STK4	6789	mdanderson.org	37	chr20	43703740	43703740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagattgaagagatcCggcagaagtaccagtccaag	15	5	13	8	1	0	4	0	1	0	3	2	6	2	4	3	2	2	3	3	2	4	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:43703740C>T	ENST00000372806.3	+	11	1482	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	STK4_ENST00000499879.2_Missense_Mutation_p.R408W|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	463	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGAAGAGATCCGGCAGAAGTA	0.552																																					p.R463W	GBM(187;1039 2137 11798 21916 33213)												STK4,rectum,carcinoma,0,3	STK4	0	3	0			c.C1387T												55	53	54					20																	43703740		2203	4300	6503	SO:0001583	missense	6789	exon11			GAGATCCGGCAGA		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1387C>T	20.37:g.43703740C>T	ENSP00000361892:p.Arg463Trp		71	0	0		51	0.06	3	NM_006282	14	0	0	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732431	0.89482	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.76448	-1.02;-0.07	5.99	5.05	0.67936	SARAH domain (1);SARAH (1);	0.063318	0.64402	D	0.000005	D	0.86777	0.6014	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.977	D	0.87504	0.2435	10	0.87932	D	0	.	14.6609	0.68870	0.0:0.9309:0.0:0.0691	.	408;463	F5H5B4;Q13043	.;STK4_HUMAN	W	463;408	ENSP00000361892:R463W;ENSP00000443514:R408W	ENSP00000361892:R463W	R	+	1	2	STK4	43137154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.570000	0.60872	2.847000	0.97988	0.655000	0.94253	CGG			0.552	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080401.4		NM_006282		T	43703740	C	T	43703740	3	4	6	1	0	0	0	0	1	0	0	0	15329	643	23	1	1429	1	STK4	20	43703740	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	8281324	43703740	19321780	91	387											
ZNF217	7764	bcgsc.ca	37	chr20	52192819	52192819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtggcggccccttggacCcccacattctgctgtggtct	3	11	12	15	1	2	0	0	0	2	0	2	1	2	1	4	5	1	1	4	5	0	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:52192819C>T	ENST00000371471.2	-	4	2909	c.2484G>A	c.(2482-2484)ggG>ggA	p.G828G	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.G828G			O75362	ZN217_HUMAN	zinc finger protein 217	828					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCCCTTGGACCCCCACATTCT	0.542																																					p.G828G													.	ZNF217	227		0			c.G2484A												73	81	79					20																	52192819		2203	4300	6503	SO:0001819	synonymous_variant	7764	exon3			TTGGACCCCCACA	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2484G>A	20.37:g.52192819C>T			64	0	0		53	0.08	4	NM_006526	164	0	0	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																					0.542	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079757.2		NM_006526		T	52192819	C	T	52192819	2	4	6	1	0	0	0	0	0	0	0	1	17795	610	22	3		3	ZNF217	20	52192819	Silent	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	8489079	52192819	10832701	92	388											
PMEPA1	56937	mdanderson.org	37	chr20	56227187	56227187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggcgcgatgtgtgtgtgGtggagccgggtcccctccag	4	8	19	10	3	0	0	0	0	0	0	2	2	2	1	4	5	1	0	4	5	0	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:56227187G>T	ENST00000341744.3	-	4	1105	c.786C>A	c.(784-786)caC>caA	p.H262Q	PMEPA1_ENST00000265626.4_Missense_Mutation_p.H212Q|PMEPA1_ENST00000395814.1_Missense_Mutation_p.H212Q|PMEPA1_ENST00000347215.4_Missense_Mutation_p.H227Q|PMEPA1_ENST00000395816.3_Missense_Mutation_p.H212Q	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	262					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGTGTGTGTGGTGGAGCCGGG	0.657																																					p.H262Q													.	.			0			c.C786A												21	23	22					20																	56227187		2198	4296	6494	SO:0001583	missense	56937	exon4			TGTGTGGTGGAGC	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.786C>A	20.37:g.56227187G>T	ENSP00000345826:p.His262Gln		42	0	0		22	0.14	3	NM_020182	32	0	0	Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.629714	0.00813	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814	T;T;T;T;T	0.40756	1.02;1.03;1.03;1.03;1.03	5.47	-6.78	0.01721	.	0.440977	0.24530	N	0.037725	T	0.13157	0.0319	N	0.11201	0.11	0.09310	N	0.999998	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.34104	-0.9842	10	0.05436	T	0.98	-13.9497	6.3436	0.21337	0.2287:0.5066:0.1791:0.0856	.	227;262	Q5JY37;Q969W9	.;PMEPA_HUMAN	Q	262;227;212;212;212	ENSP00000345826:H262Q;ENSP00000344014:H227Q;ENSP00000379161:H212Q;ENSP00000265626:H212Q;ENSP00000379159:H212Q	ENSP00000265626:H212Q	H	-	3	2	PMEPA1	55660593	0.001000	0.12720	0.001000	0.08648	0.057000	0.15508	-1.415000	0.02469	-1.431000	0.01982	-0.885000	0.02943	CAC			0.657	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079858.2		NM_020182		T	56227187	G	T	56227187	3	4	6	1	0	0	0	0	1	0	0	0	12149	1252	44	3	81	3	PMEPA1	20	56227187	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	4034368	56227187	6798333	93	389											
LAMA5	3911	mdanderson.org	37	chr20	60889717	60889717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtgtaggcagcaaggtcgGcaagatcccgtggggtgcgc	8	6	17	10	3	0	1	0	0	0	1	2	1	1	1	1	5	2	4	1	5	3	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:60889717G>A	ENST00000252999.3	-	61	8327	c.8261C>T	c.(8260-8262)gCc>gTc	p.A2754V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2754	Laminin G-like 1. {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)			AGCAAGGTCGGCAAGATCCCG	0.642																																					p.A2754V													.	.			0			c.C8261T												78	84	82					20																	60889717		2201	4300	6501	SO:0001583	missense	3911	exon61			AGGTCGGCAAGAT	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.8261C>T	20.37:g.60889717G>A	ENSP00000252999:p.Ala2754Val		41	0	0		20	0.1	2	NM_005560	115	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	14.91	2.676680	0.47886	.	.	ENSG00000130702	ENST00000252999	T	0.45276	0.9	3.65	-0.499	0.12015	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin II (1);	0.602897	0.16266	U	0.222033	T	0.30603	0.0770	L	0.48642	1.525	0.18873	N	0.999981	B	0.34181	0.44	B	0.35413	0.202	T	0.14615	-1.0466	10	0.33940	T	0.23	.	6.1285	0.20192	0.0:0.2439:0.4751:0.281	.	2754	O15230	LAMA5_HUMAN	V	2754	ENSP00000252999:A2754V	ENSP00000252999:A2754V	A	-	2	0	LAMA5	60323112	0.006000	0.16342	0.153000	0.22517	0.913000	0.54294	1.552000	0.36244	0.031000	0.15407	0.457000	0.33378	GCC			0.642	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		A	60889717	G	A	60889717	3	1	6	1	0	0	0	0	1	0	0	0	8624	1203	42	2	2906	2	LAMA5	20	60889717	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	4662530	60889717	2135803	94	390											
COL9A3	1299	mdanderson.org	37	chr20	61468455	61468455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaattgcacagttagccGcgcacctaaggaagcctttg	13	8	9	11	2	0	0	0	0	0	0	0	1	0	1	3	1	4	3	3	1	5	4	rs190167637		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr20:61468455G>T	ENST00000343916.3	+	30	1627	c.1624G>T	c.(1624-1626)Gcg>Tcg	p.A542S	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	542	Nonhelical region 3 (NC3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	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)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					ACAGTTAGCCGCGCACCTAAG	0.557																																					p.A542S													.	.			0			c.G1624T												154	178	170					20																	61468455		2203	4300	6503	SO:0001583	missense	1299	exon30			TTAGCCGCGCACC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1624G>T	20.37:g.61468455G>T	ENSP00000341640:p.Ala542Ser		26	0	0		24	0.13	3	NM_001853	32	0	0	Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286243	0.40494	.	.	ENSG00000092758	ENST00000343916	D	0.94280	-3.39	4.8	1.68	0.24146	.	0.109667	0.64402	D	0.000009	D	0.88358	0.6415	L	0.37561	1.115	0.44424	D	0.997347	P;P	0.46706	0.861;0.883	B;B	0.39738	0.293;0.308	D	0.83986	0.0335	10	0.49607	T	0.09	.	12.851	0.57858	0.2069:0.0:0.7931:0.0	.	45;542	Q9BT15;Q14050	.;CO9A3_HUMAN	S	542	ENSP00000341640:A542S	ENSP00000341640:A542S	A	+	1	0	COL9A3	60938900	1.000000	0.71417	0.028000	0.17463	0.213000	0.24496	5.221000	0.65272	-0.129000	0.11620	-1.134000	0.01955	GCG			0.557	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080071.2		NM_001853		T	61468455	G	T	61468455	3	4	6	1	0	0	0	0	1	0	0	0	3711	1087	38	1	1742	1	COL9A3	20	61468455	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	578738	61468455	1557065	95	391											
RUNX1	861	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr21	36164782	36164782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccgacatgccgatgcCgatgcccgaggtgaccggcg	7	5	15	14	6	0	1	0	1	0	0	0	5	0	1	5	3	3	0	5	3	0	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr21:36164782C>T	ENST00000344691.4	-	6	2589	c.1012G>A	c.(1012-1014)Ggc>Agc	p.G338S	RUNX1_ENST00000325074.5_Missense_Mutation_p.G353S|RUNX1_ENST00000300305.3_Missense_Mutation_p.G365S|RUNX1_ENST00000437180.1_Missense_Mutation_p.G365S|RUNX1_ENST00000399240.1_Missense_Mutation_p.G274S	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	338	Interaction with KAT6A.|Interaction with KAT6B. {ECO:0000250}.|Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.I364fs*114(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						ATGCCGATGCCGATGCCCGAG	0.716			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																p.G365S				Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	.	RUNX1	687		1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	c.G1093A												16	16	16					21																	36164782		2191	4291	6482	SO:0001583	missense	861	exon9			CGATGCCGATGCC	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.1012G>A	21.37:g.36164782C>T	ENSP00000340690:p.Gly338Ser		60	0	0		24	0.13	3	NM_001754	26	0.31	8	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507647	0.44558	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	D;D;D;D;D	0.97303	-4.14;-4.14;-4.14;-4.13;-4.33	5.12	5.12	0.69794	.	0.235594	0.42172	D	0.000760	D	0.95806	0.8635	L	0.37800	1.135	0.80722	D	1	D;D;P	0.69078	0.996;0.997;0.458	P;P;B	0.55055	0.752;0.767;0.043	D	0.93576	0.6908	10	0.02654	T	1	-9.99	18.1464	0.89656	0.0:1.0:0.0:0.0	.	365;353;338	Q01196-8;Q01196-10;Q01196	.;.;RUNX1_HUMAN	S	338;365;365;353;274;99;341	ENSP00000340690:G338S;ENSP00000300305:G365S;ENSP00000409227:G365S;ENSP00000319459:G353S;ENSP00000382184:G274S	ENSP00000300305:G365S	G	-	1	0	RUNX1	35086652	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.464000	0.66719	2.383000	0.81215	0.563000	0.77884	GGC			0.716	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000194230.1				T	36164782	C	T	36164782	3	4	6	1	0	0	0	0	1	0	0	0	13769	652	23	1	353	1	RUNX1	21	36164782	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10		36164782	11965113	96	392											
KRTAP10-3	386682	mdanderson.org	37	chr21	45978322	45978322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcctgctggcagggggAggatgtgcagcaagctggct	7	6	19	9	0	0	0	0	0	0	0	0	2	0	2	1	6	4	7	1	6	1	0			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr21:45978322A>G	ENST00000391620.1	-	1	321	c.277T>C	c.(277-279)Tcc>Ccc	p.S93P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	93	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						tggcagggggaggatgtgcag	0.667																																					p.S93P													.	.			0			c.T277C												102	98	99					21																	45978322		2203	4300	6503	SO:0001583	missense	386682	exon1			AGGGGGAGGATGT	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.277T>C	21.37:g.45978322A>G	ENSP00000375478:p.Ser93Pro		21	0.1428571429	3		20	0.2	4	NM_198696	0		0	A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	a	8.733	0.917149	0.17982	.	.	ENSG00000212935	ENST00000391620	T	0.01584	4.75	3.43	2.21	0.28008	.	.	.	.	.	T	0.07324	0.0185	M	0.90870	3.155	0.09310	N	1	D	0.55385	0.971	P	0.52217	0.693	T	0.14699	-1.0463	9	0.51188	T	0.08	.	6.0553	0.19809	0.5791:0.0:0.0:0.4209	.	93	P60369	KR103_HUMAN	P	93	ENSP00000375478:S93P	ENSP00000375478:S93P	S	-	1	0	KRTAP10-3	44802750	0.046000	0.20272	0.017000	0.16124	0.518000	0.34316	0.151000	0.16283	0.477000	0.27464	0.414000	0.27820	TCC			0.667	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128031.1				G	45978322	A	G	45978322	3	3	6	1	0	0	0	0	1	0	0	0	8525	304	11	4	392	4	KRTAP10-3	21	45978322	Missense_Mutation	SNP	A	TCGA-2G-AAF8-01A-11D-A42Y-10	9813540	45978322	2151573	97	393											
ARVCF	421	mdanderson.org	37	chr22	19965526	19965526	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccgactgcagggcatgCaggagcgcgtccaccagccc	9	3	13	16	3	0	0	0	0	0	0	1	2	1	1	4	2	5	3	4	2	0	0	rs373349214		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chr22:19965526C>T	ENST00000263207.3	-	8	1944	c.1653G>A	c.(1651-1653)ctG>ctA	p.L551L	ARVCF_ENST00000401994.1_Silent_p.L488L|ARVCF_ENST00000406522.1_Silent_p.L488L|ARVCF_ENST00000344269.3_Silent_p.L488L|ARVCF_ENST00000406259.1_Silent_p.L551L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	551					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)					GCAGGGCATGCAGGAGCGCGT	0.647																																					p.L551L													.	.			0			c.G1653A												58	50	53					22																	19965526		2203	4299	6502	SO:0001819	synonymous_variant	421	exon8			GGCATGCAGGAGC		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.1653G>A	22.37:g.19965526C>T			66	0	0		43	0.07	3	NM_001670	22	0	0	B7WNV2	Silent	SNP	ENST00000263207.3	37	CCDS13771.1																																																																																					0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000075314.5		NM_001670		T	19965526	C	T	19965526	2	4	6	1	0	0	0	0	0	0	0	1	1003	697	25	2		2	ARVCF	22	19965526	Silent	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10		19965526	31339040	98	394											
RBM10	8241	hgsc.bcm.edu	37	chrX	47030570	47030672	+	Splice_Site	DEL	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	-																															accgagcaaggggaggaggaGgaggaggaggaggatgagga																								rs377667483		TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:47030570_47030672delGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	ENST00000377604.3	+	4	1087_1174	c.345_432delGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	c.(343-432)gaggaggaggaggaggatgaggaggaggaggagaaggccagtaacatcgtcatgctgaggatgctgccacaggcagccactgaggatgac>ga	p.EEEEEDEEEEEKASNIVMLRMLPQAATEDD115fs	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	115	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.A127T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GggaggaggaggaggaggaggaggatgaggaggaggaggagaaggCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCATGGCCCCGGGC	0.673																																					p.180_209del	Melanoma(171;120 2705 19495 39241)												.	RBM10	117		1	Substitution - Missense(1)	liver(1)	c.539_627del																																									SO:0001630	splice_region_variant	8241	exon4			GGAGGAGGAGGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.432+1GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT>-	X.37:g.47030570_47030672delGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT			48	0	0		30	0	0	NM_001204468	7	0	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Frame_Shift_Del	DEL	ENST00000377604.3	37	CCDS14274.1																																																																																					0.673	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676	Frame_Shift_Del	-	47030672	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	-	47030570	8	5	6	1	0	1	0	1	0	0	1	0	13134	991	35	0	355	0	RBM10	23	47030570	Splice_Site	DEL	GGAGGAGGAGGAGGATGAGGAGGAGGAGGAGAAGGCCAGTAACATCGTCATGCTGAGGATGCTGCCACAGGCAGCCACTGAGGATGACGTACGTGCCCCCCAT	TCGA-2G-AAF8-01A-11D-A42Y-10		47030570	108239990	99	395											
GNL3L	54552	hgsc.bcm.edu	37	chrX	54578731	54578731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcccaatgcagcgggaaGatcagcttctatataccacc	12	9	7	13	1	3	1	1	0	2	1	4	2	3	2	3	1	4	2	3	1	5	4			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:54578731G>T	ENST00000336470.4	+	13	1327	c.1188G>T	c.(1186-1188)aaG>aaT	p.K396N	GNL3L_ENST00000360845.2_Missense_Mutation_p.K396N	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	396					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						GCAGCGGGAAGATCAGCTTCT	0.502																																					p.K396N													.	.			0			c.G1188T												179	138	152					X																	54578731		2203	4300	6503	SO:0001583	missense	54552	exon13			CGGGAAGATCAGC	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.1188G>T	X.37:g.54578731G>T	ENSP00000338573:p.Lys396Asn		119	0	0		103	0.06	6	NM_001184819	29	0	0		Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.215880	0.22373	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.26660	1.72;1.72	3.58	0.746	0.18365	GTP-binding protein, orthogonal bundle domain (1);	0.053473	0.64402	D	0.000004	T	0.27731	0.0682	M	0.64567	1.98	0.47819	D	0.999526	P	0.37997	0.614	B	0.43386	0.418	T	0.03945	-1.0990	10	0.66056	D	0.02	-16.4951	6.3938	0.21601	0.3772:0.0:0.6228:0.0	.	396	Q9NVN8	GNL3L_HUMAN	N	396	ENSP00000338573:K396N;ENSP00000354091:K396N	ENSP00000338573:K396N	K	+	3	2	GNL3L	54595456	1.000000	0.71417	0.997000	0.53966	0.011000	0.07611	5.107000	0.64603	0.172000	0.19760	-0.296000	0.09543	AAG			0.502	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056805.1		NM_019067		T	54578731	G	T	54578731	3	4	6	1	0	0	0	0	1	0	0	0	6552	933	33	3	1234	3	GNL3L	23	54578731	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	7548161	54578731	100691829	100	396											
DLG3	1741	bcgsc.ca	37	chrX	69665375	69665375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagctggtggccagaGtgcacctgtaccaaccggga	8	5	14	14	1	0	1	0	0	0	1	0	2	0	2	6	4	4	3	6	4	2	1			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:69665375G>T	ENST00000374360.3	+	1	557	c.324G>T	c.(322-324)gaG>gaT	p.E108D	DLG3_ENST00000194900.4_Missense_Mutation_p.E108D	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	108					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTGGCCAGAGTGCACCTGTA	0.687																																					p.E108D													.	DLG3	100		0			c.G324T												6	7	7					X																	69665375		2130	4185	6315	SO:0001583	missense	1741	exon1			GCCAGAGTGCACC	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.324G>T	X.37:g.69665375G>T	ENSP00000363480:p.Glu108Asp		39	0	0		35	0.11	4	NM_021120	0		0	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.255803	0.39896	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.44881	0.91;0.91	3.84	2.96	0.34315	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);PDZ/DHR/GLGF (1);	0.000000	0.85682	U	0.000000	T	0.29817	0.0745	N	0.08118	0	0.80722	D	1	P	0.48503	0.911	P	0.51516	0.672	T	0.03306	-1.1050	9	.	.	.	.	9.9082	0.41388	0.1047:0.0:0.8953:0.0	.	108	Q92796	DLG3_HUMAN	D	108	ENSP00000194900:E108D;ENSP00000363480:E108D	.	E	+	3	2	DLG3	69582100	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.316000	0.33620	0.765000	0.33221	0.425000	0.28330	GAG			0.687	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057074.2		NM_021120		T	69665375	G	T	69665375	3	4	6	1	0	0	0	0	1	0	0	0	4561	1020	36	3	326	3	DLG3	23	69665375	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10	15086644	69665375	85605185	101	397											
CENPI	2491	mdanderson.org	37	chrX	100383722	100383722	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgccttctcagatgggCtcagtgctaaacaactctct	9	11	8	13	0	3	1	2	0	2	1	5	1	3	1	1	1	5	3	1	1	3	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:100383722C>A	ENST00000372927.1	+	11	1369	c.1092C>A	c.(1090-1092)ggC>ggA	p.G364G	CENPI_ENST00000372926.1_Silent_p.G364G|CENPI_ENST00000423383.1_Silent_p.G364G|CENPI_ENST00000218507.5_Silent_p.G364G	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	364					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						CTCAGATGGGCTCAGTGCTAA	0.393																																					p.G364G													.	.			0			c.C1092A												192	161	171					X																	100383722		2203	4300	6503	SO:0001819	synonymous_variant	2491	exon11			GATGGGCTCAGTG	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.1092C>A	X.37:g.100383722C>A			33	0	0		41	0.07	3	NM_006733	10	0	0	Q5JWZ9|Q96ED0	Silent	SNP	ENST00000372927.1	37	CCDS14479.1																																																																																					0.393	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057519.1		NM_006733		A	100383722	C	A	100383722	2	1	6	1	0	0	0	0	0	0	0	1	3235	784	28	2		2	CENPI	23	100383722	Silent	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	30718347	100383722	54886838	102	398											
RGAG1	57529	mdanderson.org	37	chrX	109694903	109694903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccccagcactaatgacggCcctaccctctggagtgatgc	8	8	10	15	1	1	2	0	2	1	0	2	3	2	3	4	2	3	1	4	2	2	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrX:109694903C>T	ENST00000465301.2	+	3	1304	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	RGAG1_ENST00000540313.1_Missense_Mutation_p.A353V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	353										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTAATGACGGCCCTACCCTCT	0.537																																					p.A353V													.	.			0			c.C1058T												218	208	211					X																	109694903		2203	4300	6503	SO:0001583	missense	57529	exon3			TGACGGCCCTACC	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1058C>T	X.37:g.109694903C>T	ENSP00000419786:p.Ala353Val		53	0	0		51	0.06	3	NM_020769	2	0	0	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411476	0.62399	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.55052	0.54;0.54	4.42	3.54	0.40534	.	0.437633	0.16947	N	0.193077	T	0.54398	0.1856	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.58130	0.833	T	0.42832	-0.9428	9	.	.	.	-1.5446	11.4054	0.49894	0.0:0.8198:0.1802:0.0	.	353	Q8NET4	RGAG1_HUMAN	V	353	ENSP00000419786:A353V;ENSP00000441452:A353V	.	A	+	2	0	RGAG1	109581559	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.896000	0.28377	1.187000	0.43000	0.600000	0.82982	GCC			0.537	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057906.2		NM_020769		T	109694903	C	T	109694903	3	4	6	1	0	0	0	0	1	0	0	0	13297	739	26	2	1060	2	RGAG1	23	109694903	Missense_Mutation	SNP	C	TCGA-2G-AAF8-01A-11D-A42Y-10	9311181	109694903	45575657	103	399											
KDM5D	8284	bcgsc.ca	37	chrY	21878489	21878489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctcactcacccagtcaGcagtacaaaagttgacagct	13	8	7	13	0	3	1	3	1	0	0	3	1	3	1	1	0	4	5	1	0	3	2			TCGA-2G-AAF8-01A-11D-A42Y-10	TCGA-2G-AAF8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1d9d2ea5-041f-47bb-b1b5-fc33203bbcda	c7318199-b4b8-42bc-865c-20507b465c0c	g.chrY:21878489G>T	ENST00000317961.4	-	14	2100	c.1829C>A	c.(1828-1830)gCt>gAt	p.A610D	KDM5D_ENST00000541639.1_Missense_Mutation_p.A641D|KDM5D_ENST00000382806.2_Missense_Mutation_p.A553D	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	610	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CACCCAGTCAGCAGTACAAAA	0.448																																					p.A641D													.	KDM5D	40		0			c.C1922A												66	66	66					Y																	21878489		601	1944	2545	SO:0001583	missense	8284	exon15			CAGTCAGCAGTAC	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11115	protein-coding gene	gene with protein product		426000	"Jumonji, AT rich interactive domain 1D (RBP2-like)", "Smcy homolog, Y-linked (mouse)", "jumonji, AT rich interactive domain 1D"	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.1829C>A	Y.37:g.21878489G>T	ENSP00000322408:p.Ala610Asp		103	0	0		52	0.08	4	NM_001146705	10	0	0	A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	CCDS14794.1																																																																																					0.448	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088790.1		NM_004653		T	21878489	G	T	21878489	3	4	6	1	0	0	0	0	1	0	0	0	8151	971	34	2	2846	2	KDM5D	24	21878489	Missense_Mutation	SNP	G	TCGA-2G-AAF8-01A-11D-A42Y-10		21878489	37495077	104	400											
LPHN2	23266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	82436031	82436031	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttgcaggacttctacacTttttctttttggcagctttt	6	21	6	8	0	2	0	0	0	2	0	2	1	2	1	0	2	3	3	0	2	2	10			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr1:82436031T>A	ENST00000370728.1	+	18	3400	c.2755T>A	c.(2755-2757)Ttt>Att	p.F919I	LPHN2_ENST00000370725.1_Missense_Mutation_p.F919I|LPHN2_ENST00000370717.2_Missense_Mutation_p.F919I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.F919I|LPHN2_ENST00000335786.5_Missense_Mutation_p.F919I|LPHN2_ENST00000370730.1_Missense_Mutation_p.F919I|LPHN2_ENST00000370721.1_Missense_Mutation_p.F844I|LPHN2_ENST00000370715.1_Missense_Mutation_p.F906I|LPHN2_ENST00000271029.4_Missense_Mutation_p.F919I|LPHN2_ENST00000359929.3_Missense_Mutation_p.F906I|LPHN2_ENST00000370723.1_Missense_Mutation_p.F906I|LPHN2_ENST00000370713.1_Missense_Mutation_p.F906I|LPHN2_ENST00000394879.1_Missense_Mutation_p.F906I|LPHN2_ENST00000319517.6_Missense_Mutation_p.F906I			O95490	LPHN2_HUMAN	latrophilin 2	919					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)		ACTTCTACACTTTTTCTTTTT	0.353																																					p.F906I													.	.			0			c.T2716A												146	146	146					1																	82436031		2203	4300	6503	SO:0001583	missense	23266	exon14			CTACACTTTTTCT	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.2755T>A	1.37:g.82436031T>A	ENSP00000359763:p.Phe919Ile		110	0	0		85	0.14	12	NM_012302	7	0	0	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	T	24.0	4.479622	0.84747	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.89478	3.035	0.58432	D	0.999999	D;D;D	0.65815	0.986;0.992;0.995	P;P;P	0.61201	0.885;0.853;0.885	T	0.74589	-0.3615	10	0.87932	D	0	.	15.9852	0.80147	0.0:0.0:0.0:1.0	.	906;906;906	O95490-3;O95490-4;O95490-2	.;.;.	I	844;919;919;919;919;906;906;906;906;906;919;906;919;919	ENSP00000359756:F844I;ENSP00000359763:F919I;ENSP00000359765:F919I;ENSP00000359762:F919I;ENSP00000359760:F919I;ENSP00000359758:F906I;ENSP00000353006:F906I;ENSP00000359750:F906I;ENSP00000359748:F906I;ENSP00000322270:F906I;ENSP00000359752:F919I;ENSP00000378344:F906I;ENSP00000271029:F919I;ENSP00000337306:F919I	ENSP00000271029:F919I	F	+	1	0	LPHN2	82208619	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.036000	0.88901	2.172000	0.68678	0.482000	0.46254	TTT			0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000027188.1		NM_012302		A	82436031	T	A	82436031	3	1	7	1	0	0	0	0	1	0	0	0	8932	1609	56	5	2766	5	LPHN2	1	82436031	Missense_Mutation	SNP	T	TCGA-2G-AAFG-01A-11D-A42Y-10		82436031	166814590	1	401											
WDR63	126820	mdanderson.org	37	chr1	85573833	85573833	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatctacttttttgcatctGgatctctcctggaaacctct	7	16	5	13	0	4	0	0	0	4	0	6	2	5	2	3	2	3	1	3	2	2	4			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr1:85573833G>T	ENST00000294664.6	+	15	1851	c.1671G>T	c.(1669-1671)ctG>ctT	p.L557L	WDR63_ENST00000370596.1_Silent_p.L518L|WDR63_ENST00000326813.8_Silent_p.L518L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	557										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTTGCATCTGGATCTCTCCT	0.373																																					p.L557L													.	.			0			c.G1671T												154	151	152					1																	85573833		2203	4300	6503	SO:0001819	synonymous_variant	126820	exon15			GCATCTGGATCTC		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1671G>T	1.37:g.85573833G>T			40	0	0		49	0.06	3	NM_145172	0		0	A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	CCDS702.1																																																																																					0.373	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027565.2		NM_145172		T	85573833	G	T	85573833	2	4	7	1	0	0	0	0	0	0	0	1	17338	1335	47	3		3	WDR63	1	85573833	Silent	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	3137802	85573833	163676788	2	402											
SPRR1B	6699	broad.mit.edu;mdanderson.org	37	chr1	153005016	153005016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaaggttccagagccatgCcaccccaaggtgcctgagcc	9	5	10	17	0	0	2	0	1	0	1	1	2	1	2	8	2	4	1	8	2	2	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr1:153005016C>T	ENST00000307098.4	+	2	260	c.195C>T	c.(193-195)tgC>tgT	p.C65C	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	65	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.C65*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCATGCCACCCCAAGG	0.617																																					p.C65C													SPRR1B,NS,carcinoma,0,1	SPRR1B	18	1	2	Substitution - Nonsense(2)	lung(2)	c.C195T												106	105	105					1																	153005016		2203	4300	6503	SO:0001819	synonymous_variant	6699	exon2			GCCATGCCACCCC	M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"cornifin"	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.195C>T	1.37:g.153005016C>T			89	0	0		80	0.05	4	NM_003125	0		0	B2R5H7|P22529|P22530|Q5T524	Silent	SNP	ENST00000307098.4	37	CCDS30863.1																																																																																					0.617	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000038906.1		NM_003125		T	153005016	C	T	153005016	2	4	7	1	0	0	0	0	0	0	0	1	15119	747	26	2		2	SPRR1B	1	153005016	Silent	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	67431183	153005016	96245605	3	403											
OR10J1	26476	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr1	159410279	159410279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattgcttcagttgagggccGgaagaaggcttttgccacct	8	11	13	9	1	1	2	1	1	0	1	1	4	1	3	3	3	2	3	3	3	2	5	rs368823977		TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr1:159410279G>A	ENST00000423932.3	+	1	768	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	244					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTTGAGGGCCGGAAGAAGGCT	0.478																																					p.R244Q													OR10J1,NS,carcinoma,+1,1	OR10J1	1	1	0			c.G731A							G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	189	175	180		731	1.8	0.1	1		180	0,8600		0,0,4300	no	missense	OR10J1	NM_012351.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	244/321	159410279	1,13005	2203	4300	6503	SO:0001583	missense	26476	exon1			AGGGCCGGAAGAA	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.731G>A	1.37:g.159410279G>A	ENSP00000399078:p.Arg244Gln		108	0.0092592593	1		105	0.06	6	NM_012351	0		0	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255584	0.22965	2.27E-4	0.0	ENSG00000196184	ENST00000423932	T	0.00311	8.15	3.73	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.202066	0.24202	N	0.040602	T	0.00073	0.0002	L	0.55990	1.75	0.18873	N	0.999984	B	0.29253	0.239	B	0.26864	0.074	T	0.27640	-1.0068	10	0.54805	T	0.06	.	8.2618	0.31790	0.1974:0.0:0.8026:0.0	.	244	P30954	O10J1_HUMAN	Q	244	ENSP00000399078:R244Q	ENSP00000399078:R244Q	R	+	2	0	OR10J1	157676903	0.000000	0.05858	0.076000	0.20297	0.709000	0.40893	0.048000	0.14078	0.334000	0.23590	0.650000	0.86243	CGG			0.478	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059020.1		NM_012351		A	159410279	G	A	159410279	3	1	7	1	0	0	0	0	1	0	0	0	10927	1116	39	1	733	1	OR10J1	1	159410279	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	6405263	159410279	89840342	4	404											
HLX	3142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	221054636	221054636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatctctagatcccattaaCgaggcttctgcaatcctgag	10	11	8	12	1	2	2	0	1	2	1	5	3	4	2	2	1	2	3	2	1	3	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr1:221054636C>G	ENST00000366903.6	+	2	2194	c.693C>G	c.(691-693)aaC>aaG	p.N231K	HLX_ENST00000549319.1_5'UTR|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	231					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ATCCCATTAACGAGGCTTCTG	0.552																																					p.N231K													.	.			0			c.C693G												94	96	96					1																	221054636		2203	4300	6503	SO:0001583	missense	3142	exon2			CATTAACGAGGCT	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.693C>G	1.37:g.221054636C>G	ENSP00000355870:p.Asn231Lys		147	0	0		118	0.15	18	NM_021958	15	0	0	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077926	0.55753	.	.	ENSG00000136630	ENST00000366903	D	0.89681	-2.55	5.82	0.873	0.19118	.	0.357028	0.26855	N	0.022143	T	0.78648	0.4316	N	0.24115	0.695	0.80722	D	1	B	0.23650	0.089	B	0.19391	0.025	T	0.64761	-0.6331	10	0.29301	T	0.29	-36.3448	9.9892	0.41860	0.0:0.6695:0.0:0.3305	.	231	Q14774	HLX_HUMAN	K	231	ENSP00000355870:N231K	ENSP00000355870:N231K	N	+	3	2	HLX	219121259	0.961000	0.32948	0.991000	0.47740	0.967000	0.64934	0.160000	0.16462	-0.076000	0.12775	-0.254000	0.11334	AAC			0.552	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090902.3		NM_021958		G	221054636	C	G	221054636	3	3	7	1	0	0	0	0	1	0	0	0	7231	535	19	5	699	5	HLX	1	221054636	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	61644357	221054636	28195985	5	405											
ARID4B	51742	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	235345007	235345007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actggaggtcttggagctccCcagcaacactatccacctca	10	8	8	15	0	2	0	1	0	1	0	4	2	4	2	4	3	3	2	4	3	2	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr1:235345007C>G	ENST00000264183.3	-	20	3724	c.3227G>C	c.(3226-3228)gGg>gCg	p.G1076A	ARID4B_ENST00000349213.3_Missense_Mutation_p.G990A|ARID4B_ENST00000366603.2_Missense_Mutation_p.G1076A|ARID4B_ENST00000494543.1_5'UTR	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1076					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTGGAGCTCCCCAGCAACACT	0.478																																					p.G1076A													.	ARID4B	142		0			c.G3227C												111	94	100					1																	235345007		2203	4300	6503	SO:0001583	missense	51742	exon20			AGCTCCCCAGCAA	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3227G>C	1.37:g.235345007C>G	ENSP00000264183:p.Gly1076Ala		86	0.011627907	1		59	0.17	10	NM_016374	63	0.27	17	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.161176|3.161176	0.57368|0.57368	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.27890|.	1.7;1.64;1.64|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.71298|0.71298	0.3323|0.3323	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.87578|.	0.998;0.996;0.996;0.991|.	T|T	0.71941|0.71941	-0.4440|-0.4440	10|7	0.02654|0.51188	T|T	1|0.08	-12.6422|-12.6422	18.6926|18.6926	0.91589|0.91589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	757;1076;990;1076|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	A|R	1076;990;1076;1076|476	ENSP00000264184:G990A;ENSP00000355562:G1076A;ENSP00000264183:G1076A|.	ENSP00000264183:G1076A|ENSP00000416063:G476R	G|G	-|-	2|1	0|0	ARID4B|ARID4B	233411630|233411630	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.979000|0.979000	0.70002|0.70002	5.535000|5.535000	0.67173|0.67173	2.418000|2.418000	0.82041|0.82041	0.585000|0.585000	0.79938|0.79938	GGG|GGG			0.478	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095566.3		NM_016374		G	235345007	C	G	235345007	3	3	7	1	0	0	0	0	1	0	0	0	920	623	22	5	731	5	ARID4B	1	235345007	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	14290371	235345007	13905614	6	406											
FSIP2	401024	broad.mit.edu	37	chr2	186680198	186680198	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatctcatttcatctactgGgtatatgaaattaaagcagt	14	14	7	6	0	3	2	2	1	2	1	4	2	3	2	0	1	2	2	0	1	6	5			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr2:186680198G>T	ENST00000424728.1	+	19	20426	c.20426G>T	c.(20425-20427)gGt>gTt	p.G6809V	FSIP2_ENST00000343098.5_Splice_Site_p.G6898V			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6809										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCATCTACTGGGTATATGAAA	0.333																																					p.G6898V													.	FSIP2	251		0			c.G20693T												63	57	59					2																	186680198		1808	4068	5876	SO:0001630	splice_region_variant	401024	exon19			CTACTGGGTATAT	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.20426+1G>T	2.37:g.186680198G>T			307	0	0		310	0.02	5	NM_173651	0		0	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Splice_Site	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	G	13.90	2.375289	0.42105	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.57907	0.37;0.39	4.98	4.98	0.66077	.	0.786233	0.11125	N	0.596973	T	0.51669	0.1688	N	0.24115	0.695	0.80722	D	1	.	.	.	.	.	.	T	0.50215	-0.8854	8	0.62326	D	0.03	.	13.9516	0.64121	0.0:0.0:1.0:0.0	.	.	.	.	V	6898;6809	ENSP00000344403:G6898V;ENSP00000401306:G6809V	ENSP00000344403:G6898V	G	+	2	0	FSIP2	186388443	0.998000	0.40836	0.878000	0.34440	0.002000	0.02628	4.082000	0.57635	2.738000	0.93877	0.655000	0.94253	GGT			0.333	FSIP2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000332778.3		NM_173651	Missense_Mutation	T	186680198	G	T	186680198	5	4	7	1	0	0	0	0	0	0	1	0	6088	1246	43	3	20767	3	FSIP2	2	186680198	Splice_Site	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		186680198	56519175	7	407											
NBEAL1	65065	broad.mit.edu	37	chr2	204000666	204000666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcggatcagtggagtttGgaggatagacactctttaga	10	13	12	6	1	3	2	1	0	2	2	4	6	3	6	0	4	0	1	0	4	2	5			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr2:204000666G>T	ENST00000449802.1	+	27	4326	c.3993G>T	c.(3991-3993)ttG>ttT	p.L1331F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1331										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTGGAGTTTGGAGGATAGAC	0.398																																					p.L1331F													.	NBEAL1	266		0			c.G3993T												88	80	83					2																	204000666		1846	4098	5944	SO:0001583	missense	65065	exon27			GAGTTTGGAGGAT	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.3993G>T	2.37:g.204000666G>T	ENSP00000399903:p.Leu1331Phe		304	0	0		303	0.02	6	NM_001114132	0		0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464922	0.26335	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.55234	0.53	5.28	-0.0239	0.13941	.	0.907276	0.09495	N	0.794379	T	0.28732	0.0712	L	0.29908	0.895	0.41125	D	0.985842	P;B	0.35383	0.498;0.28	B;B	0.31191	0.125;0.08	T	0.30851	-0.9964	10	0.08837	T	0.75	.	2.0563	0.03582	0.3664:0.1181:0.3947:0.1209	.	1331;1320	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	F	1331	ENSP00000399903:L1331F	ENSP00000344985:L1331F	L	+	3	2	NBEAL1	203708911	1.000000	0.71417	0.167000	0.22817	0.936000	0.57629	0.709000	0.25734	-0.321000	0.08627	-0.145000	0.13849	TTG			0.398	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333982.4				T	204000666	G	T	204000666	3	4	7	1	0	0	0	0	1	0	0	0	10204	1339	47	3	4095	3	NBEAL1	2	204000666	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	17320468	204000666	39198707	8	408											
FBLN2	2199	mdanderson.org	37	chr3	13655520	13655520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctgggcctccgcgtgCgggccgagggccagtcgtgt	2	7	19	13	5	0	0	0	0	0	0	2	1	1	0	5	4	1	0	5	4	0	0	rs148310871	byFrequency	TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr3:13655520C>T	ENST00000295760.7	+	5	1654	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	FBLN2_ENST00000535798.1_Missense_Mutation_p.R555W|FBLN2_ENST00000404922.3_Missense_Mutation_p.R529W|FBLN2_ENST00000492059.1_Missense_Mutation_p.R529W	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	529	Anaphylatoxin-like 3. {ECO:0000255|PROSITE-ProRule:PRU00022}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCTCCGCGTGCGGGCCGAGGG	0.602													C|||	2	0.000399361	0	0	5008	,	,		19418	0		0.002	False		,,,				2504	0				p.R529W													FBLN2_ENST00000492059,colon,carcinoma,-1,1	FBLN2_ENST00000492059	-1	1	0			c.C1585T												44	52	49					3																	13655520		2057	4181	6238	SO:0001583	missense	2199	exon5			CGCGTGCGGGCCG	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1585C>T	3.37:g.13655520C>T	ENSP00000295760:p.Arg529Trp		32	0	0		42	0.07	3	NM_001998	32	0	0	B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.98	1.800155	0.31869	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.27	0.956	0.19608	Anaphylatoxin/fibulin (4);	0.336770	0.25872	N	0.027758	T	0.31263	0.0791	N	0.24115	0.695	0.09310	N	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.65987	0.94;0.866;0.855	T	0.15065	-1.0450	10	0.87932	D	0	.	11.7629	0.51914	0.7113:0.2887:0.0:0.0	.	529;529;555	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	W	555;529;529;529	ENSP00000445705:R555W;ENSP00000384169:R529W;ENSP00000295760:R529W;ENSP00000420042:R529W	ENSP00000295760:R529W	R	+	1	2	FBLN2	13630521	0.994000	0.37717	0.220000	0.23810	0.200000	0.23975	1.924000	0.40065	0.396000	0.25283	0.591000	0.81541	CGG	0		0.602	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000340083.3		NM_001004019		T	13655520	C	T	13655520	3	4	7	1	0	0	0	0	1	0	0	0	5712	759	27	1	289	1	FBLN2	3	13655520	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10		13655520	184366910	9	409											
ACVR2B	93	bcgsc.ca	37	chr3	38518867	38518867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccagagcggcctggagCgctgcgaaggcgagcaggac	10	2	16	13	4	0	1	0	0	0	1	0	5	0	3	3	4	5	2	3	4	2	0			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr3:38518867C>T	ENST00000352511.4	+	2	614	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	48					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)		CGGCCTGGAGCGCTGCGAAGG	0.647																																					p.R48C													.	ACVR2B	88		0			c.C142T												65	59	61					3																	38518867		2203	4300	6503	SO:0001583	missense	93	exon2			CTGGAGCGCTGCG	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.142C>T	3.37:g.38518867C>T	ENSP00000340361:p.Arg48Cys		80	0	0		61	0	0	NM_001106	13	0	0	Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.809914	0.70797	.	.	ENSG00000114739	ENST00000352511	D	0.98512	-4.97	4.17	4.17	0.49024	TGF-beta receptor/activin receptor, type I/II (1);	0.053892	0.85682	D	0.000000	D	0.97835	0.9289	L	0.53249	1.67	0.80722	D	1	D	0.62365	0.991	P	0.58970	0.849	D	0.97038	0.9755	10	0.42905	T	0.14	.	12.1902	0.54266	0.1706:0.8294:0.0:0.0	.	48	Q13705	AVR2B_HUMAN	C	48	ENSP00000340361:R48C	ENSP00000340361:R48C	R	+	1	0	ACVR2B	38493871	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.685000	0.68204	2.318000	0.78349	0.655000	0.94253	CGC			0.647	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254059.3		NM_001106		T	38518867	C	T	38518867	3	4	7	1	0	0	0	0	1	0	0	0	224	768	27	1	148	1	ACVR2B	3	38518867	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	24863347	38518867	159503563	10	410											
TKT	7086	mdanderson.org	37	chr3	53275169	53275169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccgggtgcccgtccaaGtcggagctgatcttcctcag	6	8	14	13	3	2	1	1	1	1	0	5	3	4	3	4	3	2	1	4	3	1	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr3:53275169G>T	ENST00000462138.1	-	3	406	c.318C>A	c.(316-318)gaC>gaA	p.D106E	TKT_ENST00000423516.1_Missense_Mutation_p.D106E|TKT_ENST00000296289.6_Missense_Mutation_p.D59E|TKT_ENST00000423525.2_Missense_Mutation_p.D106E			P29401	TKT_HUMAN	transketolase	106					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GCCCGTCCAAGTCGGAGCTGA	0.647																																					p.D106E	Colon(133;1506 2347 35238 42177)												.	.			0			c.C318A												59	57	57					3																	53275169		2203	4300	6503	SO:0001583	missense	7086	exon3			GTCCAAGTCGGAG		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.318C>A	3.37:g.53275169G>T	ENSP00000417773:p.Asp106Glu		16	0	0		36	0.08	3	NM_001135055	1038	0	0	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	9.116	1.007786	0.19199	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.9	3.66	0.41972	Transketolase, N-terminal (1);	0.252596	0.44902	D	0.000416	T	0.16471	0.0396	L	0.55834	1.745	0.37263	D	0.907087	B;B	0.21381	0.035;0.055	B;B	0.30572	0.048;0.117	T	0.09662	-1.0664	10	0.06494	T	0.89	-25.0468	5.7732	0.18265	0.2051:0.1701:0.6249:0.0	.	106;106	E7EPA7;P29401	.;TKT_HUMAN	E	106;106;106;59	ENSP00000417773:D106E;ENSP00000405455:D106E;ENSP00000391481:D106E;ENSP00000296289:D59E	ENSP00000296289:D59E	D	-	3	2	TKT	53250209	0.063000	0.20901	0.977000	0.42913	0.243000	0.25628	0.823000	0.27366	2.792000	0.96026	0.655000	0.94253	GAC			0.647	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350356.1				T	53275169	G	T	53275169	3	4	7	1	0	0	0	0	1	0	0	0	15957	1020	36	3	1601	3	TKT	3	53275169	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	14756302	53275169	144747261	11	411											
MAGI1	9223	hgsc.bcm.edu	37	chr3	65425594	65425594	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgttgctgctgctg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2	rs552500635	byFrequency	TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr3:65425594C>T	ENST00000497477.2	-	9	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	MAGI1_ENST00000483466.1_Silent_p.Q410Q|MAGI1_ENST00000330909.8_Silent_p.Q410Q|MAGI1_ENST00000402939.2_Silent_p.Q410Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	410	Poly-Gln.				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)		gctgctgttgctgctgctgtt	0.542											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	722	0.144169	0.0893	0.1282	5008	,	,		14940	0.2024		0.0825	False		,,,				2504	0.2331				p.Q410Q													MAGI1_ENST00000402939,NS,carcinoma,0,9	MAGI1_ENST00000402939	0	9	0			c.G1230A												65	61	62					3																	65425594		2199	4283	6482	SO:0001819	synonymous_variant	9223	exon9			CTGTTGCTGCTGC	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.1230G>A	3.37:g.65425594C>T			28	0.0357142857	1	1084	40	0.25	10	NM_001033057	7	0	0	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	C	1.063	-0.672234	0.03403	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.3	-0.172	0.13327	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	0.8958	1.6281	0.02727	0.1431:0.3787:0.1264:0.3517	.	.	.	.	N	291	.	.	S	-	2	0	MAGI1	65400634	0.371000	0.25056	0.001000	0.08648	0.001000	0.01503	-1.015000	0.03637	-0.726000	0.04895	-0.813000	0.03139	AGC			0.542	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000349132.2		NM_004742		T	65425594	C	T	65425594	2	4	7	1	0	0	0	0	0	0	0	1	9206	796	28	2		2	MAGI1	3	65425594	Silent	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	12150425	65425594	132596836	12	412											
MED12L	116931	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	151093929	151093929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaattactgcagcttatctGttatcctcatggcattaaag	12	14	7	8	0	2	0	1	0	1	0	3	1	3	0	1	1	3	4	1	1	6	4			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr3:151093929G>A	ENST00000474524.1	+	26	3913	c.3875G>A	c.(3874-3876)tGt>tAt	p.C1292Y	MED12L_ENST00000273432.4_Missense_Mutation_p.C1152Y|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1292						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)			CAGCTTATCTGTTATCCTCAT	0.388																																					p.C1292Y													.	MED12L	271		0			c.G3875A												82	81	82					3																	151093929		2203	4300	6503	SO:0001583	missense	116931	exon26			TTATCTGTTATCC	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.3875G>A	3.37:g.151093929G>A	ENSP00000417235:p.Cys1292Tyr		66	0.0151515152	1		78	0.15	12	NM_053002	7	0	0	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766029	0.90020	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.65549	0.02;-0.16	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;D;D	0.85130	0.997;0.994;0.986	T	0.81376	-0.0961	10	0.87932	D	0	-16.3698	19.874	0.96863	0.0:0.0:1.0:0.0	.	1152;1291;1292	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Y	1292;1152	ENSP00000417235:C1292Y;ENSP00000273432:C1152Y	ENSP00000273432:C1152Y	C	+	2	0	MED12L	152576619	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.293000	0.96082	2.788000	0.95919	0.650000	0.86243	TGT			0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357707.2		NM_053002		A	151093929	G	A	151093929	3	1	7	1	0	0	0	0	1	0	0	0	9445	1377	48	3	3977	3	MED12L	3	151093929	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	85668335	151093929	46928501	13	413											
DSPP	1834	bcgsc.ca	37	chr4	88536118	88536118	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagtgacagcagTgatagcagtgacagcagtga	15	5	13	8	0	0	4	0	4	0	0	0	4	0	4	0	0	6	5	0	0	2	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr4:88536118T>C	ENST00000282478.7	+	4	2337	c.2304T>C	c.(2302-2304)agT>agC	p.S768S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S768S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	768	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagtgatagcagtg	0.517																																					p.S768S													.	DSPP	174		0			c.T2304C												74	85	81					4																	88536118		1649	2989	4638	SO:0001819	synonymous_variant	1834	exon5			CAGCAGTGATAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2304T>C	4.37:g.88536118T>C			88	0	0		85	0.01	1	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.517	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		C	88536118	T	C	88536118	2	2	7	1	0	0	0	0	0	0	0	1	4787	1693	59	4		4	DSPP	4	88536118	Silent	SNP	T	TCGA-2G-AAFG-01A-11D-A42Y-10		88536118	102618158	14	414											
SEC24B	10427	mdanderson.org	37	chr4	110460718	110460718	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttttctttcttccagaGatgagagtcctgccaaagca	9	12	8	12	0	2	2	0	1	2	2	4	4	4	2	4	0	2	1	4	0	1	4			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr4:110460718G>T	ENST00000265175.5	+	24	3749	c.3694G>T	c.(3694-3696)Gat>Tat	p.D1232Y	SEC24B_ENST00000504968.2_Splice_Site_p.D1262Y|SEC24B_ENST00000399100.2_Splice_Site_p.D1197Y	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1232					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)		TTCTTCCAGAGATGAGAGTCC	0.373																																					p.D1232Y													.	.			0			c.G3694T												75	66	68					4																	110460718		1813	4072	5885	SO:0001630	splice_region_variant	10427	exon24			TCCAGAGATGAGA	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.3693-1G>T	4.37:g.110460718G>T			67	0	0		40	0.08	3	NM_006323	47	0	0	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423270	0.83559	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.32515	1.45;1.45;1.45	5.31	5.31	0.75309	.	0.095400	0.64402	D	0.000001	T	0.60379	0.2264	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.973;0.938;0.973;0.991;0.98	T	0.64232	-0.6456	10	0.87932	D	0	-27.5696	19.1814	0.93625	0.0:0.0:1.0:0.0	.	1146;831;1262;1197;1232	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	Y	1262;1197;1232	ENSP00000428564:D1262Y;ENSP00000382051:D1197Y;ENSP00000265175:D1232Y	ENSP00000265175:D1232Y	D	+	1	0	SEC24B	110680167	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.538000	0.98072	2.779000	0.95612	0.591000	0.81541	GAT			0.373	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000364693.2			Missense_Mutation	T	110460718	G	T	110460718	5	4	7	1	0	0	0	0	0	0	1	0	14018	956	33	3	3788	3	SEC24B	4	110460718	Splice_Site	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	21924600	110460718	80693558	15	415											
PLEKHG4B	153478	mdanderson.org	37	chr5	143516	143516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgagaccgtcatggcaGagcagtggtgcaggtccgca	9	5	15	12	3	1	2	1	0	0	2	2	4	2	2	3	3	2	4	3	3	0	0			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr5:143516G>T	ENST00000283426.6	+	3	691	c.641G>T	c.(640-642)aGa>aTa	p.R214I	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	214							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)		CGTCATGGCAGAGCAGTGGTG	0.627																																					p.R214I													.	.			0			c.G641T												59	63	62					5																	143516		2202	4295	6497	SO:0001583	missense	153478	exon3			ATGGCAGAGCAGT	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.641G>T	5.37:g.143516G>T	ENSP00000283426:p.Arg214Ile		45	0	0		33	0.09	3	NM_052909	26	0	0		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	13.84	2.357241	0.41801	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.66815	-0.23;-0.23	2.67	2.67	0.31697	.	.	.	.	.	T	0.81158	0.4764	M	0.86268	2.805	0.42957	D	0.994396	D	0.89917	1.0	D	0.87578	0.998	T	0.82824	-0.0266	9	0.56958	D	0.05	.	11.0441	0.47849	0.0:0.0:1.0:0.0	.	214	Q96PX9	PKH4B_HUMAN	I	214;128	ENSP00000283426:R214I;ENSP00000422493:R128I	ENSP00000283426:R214I	R	+	2	0	PLEKHG4B	196516	0.991000	0.36638	0.063000	0.19743	0.036000	0.12997	3.734000	0.55037	1.182000	0.42928	0.467000	0.42956	AGA			0.627	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365359.1		NM_052909		T	143516	G	T	143516	3	4	7	1	0	0	0	0	1	0	0	0	12089	942	33	3	651	3	PLEKHG4B	5	143516	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		143516	180771744	16	416											
BRD9	65980	mdanderson.org	37	chr5	884147	884147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctctgcggtactgtccGtcaagctgcaggcattccct	5	11	10	15	2	2	0	1	0	1	0	5	0	5	0	3	2	4	5	3	2	2	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr5:884147G>T	ENST00000467963.1	-	8	1038	c.872C>A	c.(871-873)aCg>aAg	p.T291K	BRD9_ENST00000435709.2_Missense_Mutation_p.T175K|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Missense_Mutation_p.T238K|BRD9_ENST00000388890.4_Missense_Mutation_p.T175K|BRD9_ENST00000323510.4_Missense_Mutation_p.T195K	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	291					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GGTACTGTCCGTCAAGCTGCA	0.632																																					p.T291K													BRD9_ENST00000467963,NS,carcinoma,+1,4	BRD9_ENST00000467963	1	4	0			c.C872A												117	92	100					5																	884147		2203	4300	6503	SO:0001583	missense	65980	exon8			CTGTCCGTCAAGC	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.872C>A	5.37:g.884147G>T	ENSP00000419765:p.Thr291Lys		48	0	0		52	0.06	3	NM_023924	72	0	0	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	G	8.343	0.829097	0.16749	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.03	3.23	0.37069	.	0.047167	0.85682	D	0.000000	T	0.41926	0.1180	L	0.60455	1.87	0.80722	D	1	P;P;B;B	0.42161	0.772;0.483;0.427;0.427	B;B;B;B	0.43783	0.431;0.155;0.184;0.184	T	0.41752	-0.9491	10	0.02654	T	1	-11.7047	11.3623	0.49651	0.1429:0.0:0.8571:0.0	.	238;291;195;175	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	K	195;175;238;291;175;195	ENSP00000323557:T195K;ENSP00000373542:T175K;ENSP00000419845:T238K;ENSP00000419765:T291K;ENSP00000402984:T175K;ENSP00000420722:T195K	ENSP00000323557:T195K	T	-	2	0	BRD9	937147	1.000000	0.71417	0.611000	0.29010	0.840000	0.47671	8.846000	0.92159	0.516000	0.28340	0.609000	0.83330	ACG			0.632	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354113.1		NM_023924		T	884147	G	T	884147	3	4	7	1	0	0	0	0	1	0	0	0	1509	1145	40	1	957	1	BRD9	5	884147	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	740631	884147	180031113	17	417											
FBN2	2201	mdanderson.org	37	chr5	127623058	127623058	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgggcacgtgcattcataGgacccaaaagtgttcatgca	12	9	10	10	2	2	0	2	0	0	0	3	1	2	1	1	2	2	4	1	2	3	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr5:127623058G>T	ENST00000508053.1	-	60	7796	c.6822C>A	c.(6820-6822)tcC>tcA	p.S2274S	FBN2_ENST00000262464.4_Silent_p.S2274S			P35556	FBN2_HUMAN	fibrillin 2	2274	EGF-like 38; 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)		TGCATTCATAGGACCCAAAAG	0.488																																					p.S2274S													.	.			0			c.C6822A												163	149	154					5																	127623058		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon54			TTCATAGGACCCA	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.6822C>A	5.37:g.127623058G>T			66	0	0		52	0.06	3	NM_001999	0		0	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																					0.488	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371618.2		NM_001999		T	127623058	G	T	127623058	2	4	7	1	0	0	0	0	0	0	0	1	5716	987	35	3		3	FBN2	5	127623058	Silent	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	126738911	127623058	53292202	18	418											
DEK	7913	bcgsc.ca	37	chr6	18264096	18264096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctcctcctcctcctcCtcgtcgtcctcgtcctcttc	0	17	3	21	3	1	0	0	0	1	0	13	0	9	0	8	0	0	0	8	0	0	3	rs147127829	byFrequency	TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr6:18264096C>G	ENST00000397239.3	-	2	570	c.123G>C	c.(121-123)gaG>gaC	p.E41D	DEK_ENST00000244776.7_Missense_Mutation_p.E41D	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	41	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			cctcctcctcctcgtcgtcct	0.562			T	NUP214	AML								C|||	10	0.00199681	0.0068	0	5008	,	,		14423	0		0	False		,,,				2504	0.001				p.E41D				Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	.	DEK	31		0			c.G123C							-	ASP/GLU,ASP/GLU	8,4398	14.3+/-33.2	0,8,2195	43	47	45		123,123	-3.7	0.1	6	dbSNP_134	45	0,8600		0,0,4300	yes	missense,missense	DEK	NM_001134709.1,NM_003472.3	45,45	0,8,6495	GG,GC,CC		0.0,0.1816,0.0615	benign,benign	41/342,41/376	18264096	8,12998	2203	4300	6503	SO:0001583	missense	7913	exon2			CTCCTCCTCGTCG	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.123G>C	6.37:g.18264096C>G	ENSP00000380414:p.Glu41Asp		113	0	0		103	0.04	4	NM_003472	144	0	0	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.267	0.417416	0.11870	0.001816	0.0	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000515742	T;T;T	0.51817	0.76;0.85;0.69	4.57	-3.65	0.04502	.	0.440668	0.20131	N	0.098587	T	0.09598	0.0236	L	0.48642	1.525	0.22880	N	0.998611	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38585	-0.9654	10	0.12766	T	0.61	-5.206	1.3254	0.02124	0.2162:0.3697:0.1081:0.306	.	41;41	B4DN37;P35659	.;DEK_HUMAN	D	41;41;46	ENSP00000380414:E41D;ENSP00000244776:E41D;ENSP00000423553:E46D	ENSP00000244776:E41D	E	-	3	2	DEK	18372075	0.003000	0.15002	0.050000	0.19076	0.529000	0.34654	-2.192000	0.01245	-1.460000	0.01911	-2.294000	0.00264	GAG			0.562	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039962.4				G	18264096	C	G	18264096	3	3	7	1	0	0	0	0	1	0	0	0	4429	680	24	5	1044	5	DEK	6	18264096	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10		18264096	152850971	19	419											
HIST1H2AI	8329	broad.mit.edu	37	chr6	27776148	27776148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccggtgtacctggcggCggtgctggagtacctgaccg	5	7	17	12	5	0	1	0	1	0	0	0	2	0	2	4	5	4	3	4	5	2	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr6:27776148C>T	ENST00000358739.3	+	1	250	c.161C>T	c.(160-162)gCg>gTg	p.A54V	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	54						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						TACCTGGCGGCGGTGCTGGAG	0.677																																					p.A54V													.	HIST1H2AI	9		0			c.C161T												12	15	14					6																	27776148		2094	4157	6251	SO:0001583	missense	8329	exon1			TGGCGGCGGTGCT	Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"Histones / Replication-dependent"	4725	protein-coding gene	gene with protein product		602787	"H2A histone family, member C", "histone 1, H2ai"	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.161C>T	6.37:g.27776148C>T	ENSP00000351589:p.Ala54Val		131	0	0		137	0.1	14	NM_003509	41	0.17	7	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000358739.3	37	CCDS4626.1	.	.	.	.	.	.	.	.	.	.	.	18.67	3.673528	0.67928	.	.	ENSG00000196747	ENST00000358739	T	0.71103	-0.54	4.53	3.64	0.41730	.	0.000000	0.39909	N	0.001233	T	0.74152	0.3679	.	.	.	0.39437	D	0.96718	.	.	.	.	.	.	T	0.79095	-0.1944	7	0.72032	D	0.01	.	14.2543	0.66040	0.0:0.8492:0.1508:0.0	.	.	.	.	V	54	ENSP00000351589:A54V	ENSP00000351589:A54V	A	+	2	0	HIST1H2AI	27884127	1.000000	0.71417	0.993000	0.49108	0.572000	0.35998	7.066000	0.76734	1.183000	0.42943	0.556000	0.70494	GCG			0.677	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040152.1		NM_003509		T	27776148	C	T	27776148	3	4	7	1	0	0	0	0	1	0	0	0	7150	768	27	1	163	1	HIST1H2AI	6	27776148	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	9512052	27776148	143338919	20	420											
COL11A2	1302	mdanderson.org	37	chr6	33140407	33140407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatagggccggtttctcctGctgctccctagacaaaagca	9	9	9	14	1	1	1	0	0	1	1	3	1	2	1	4	2	3	4	4	2	4	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr6:33140407G>A	ENST00000374708.4	-	37	2798	c.2540C>T	c.(2539-2541)gCa>gTa	p.A847V	COL11A2_ENST00000341947.2_Missense_Mutation_p.A933V|COL11A2_ENST00000357486.1_Missense_Mutation_p.A912V|COL11A2_ENST00000374713.1_Missense_Mutation_p.A886V|COL11A2_ENST00000361917.1_Missense_Mutation_p.A826V|COL11A2_ENST00000374714.1_Missense_Mutation_p.A907V|COL11A2_ENST00000395197.1_Missense_Mutation_p.A873V|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.A852V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	933	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						GGTTTCTCCTGCTGCTCCCTA	0.602																																					p.A933V	Melanoma(1;90 116 3946 5341 17093)												.	.			0			c.C2798T												36	40	38					6																	33140407		1509	2709	4218	SO:0001583	missense	1302	exon39			TCTCCTGCTGCTC	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.2540C>T	6.37:g.33140407G>A	ENSP00000363840:p.Ala847Val		33	0	0		40	0.08	3	NM_080680	0		0	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712354	0.68730	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.94376	-2.58;-3.41;-2.58;-2.58;-3.41;-2.58;-2.58;-3.41	5.03	5.03	0.67393	.	0.350553	0.27176	N	0.020571	D	0.82646	0.5082	N	0.20328	0.56	0.42082	D	0.991255	P;P;B	0.46220	0.874;0.571;0.421	B;B;B	0.41723	0.365;0.28;0.073	D	0.84217	0.0459	10	0.40728	T	0.16	.	10.8676	0.46864	0.0:0.0:0.8123:0.1877	.	826;847;933	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	V	847;933;912;907;886;873;852;826	ENSP00000363840:A847V;ENSP00000339915:A933V;ENSP00000350079:A912V;ENSP00000363846:A907V;ENSP00000363845:A886V;ENSP00000378623:A873V;ENSP00000363844:A852V;ENSP00000355123:A826V	ENSP00000339915:A933V	A	-	2	0	COL11A2	33248385	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	7.453000	0.80700	2.632000	0.89209	0.643000	0.83706	GCA			0.602	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000076032.2				A	33140407	G	A	33140407	3	1	7	1	0	0	0	0	1	0	0	0	3670	1319	46	2	2524	2	COL11A2	6	33140407	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	5364259	33140407	137974660	21	421											
B3GALT4	8705	bcgsc.ca	37	chr6	33245604	33245604	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcggagtcagcagcccagggGgatatcttgcaggccgcctt	7	8	14	12	2	2	0	1	0	1	0	3	2	2	2	3	4	3	2	3	4	1	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr6:33245604G>T	ENST00000451237.1	+	1	688	c.408G>T	c.(406-408)ggG>ggT	p.G136G		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	136					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CAGCCCAGGGGGATATCTTGC	0.627																																					p.G136G													.	B3GALT4	30		0			c.G408T												55	62	59					6																	33245604		2203	4299	6502	SO:0001819	synonymous_variant	8705	exon1			CCAGGGGGATATC	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.408G>T	6.37:g.33245604G>T			44	0	0		40	0	0	NM_003782	16	0	0		Silent	SNP	ENST00000451237.1	37	CCDS34425.1																																																																																					0.627	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076162.2				T	33245604	G	T	33245604	2	4	7	1	0	0	0	0	0	0	0	1	1249	1219	43	3		3	B3GALT4	6	33245604	Silent	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	105197	33245604	137869463	22	422											
ITPR3	3710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	33652420	33652420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaactacctccagaacCggaagtccacctcgcggggg	11	5	11	14	3	0	1	0	0	0	1	3	2	2	2	5	3	4	1	5	3	5	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr6:33652420C>G	ENST00000374316.5	+	39	6152	c.5092C>G	c.(5092-5094)Cgg>Ggg	p.R1698G	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1698G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1698					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTCCAGAACCGGAAGTCCAC	0.637																																					p.R1698G													.	.			0			c.C5092G												77	81	80					6																	33652420		2203	4300	6503	SO:0001583	missense	3710	exon38			CAGAACCGGAAGT	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5092C>G	6.37:g.33652420C>G	ENSP00000363435:p.Arg1698Gly		121	0	0		98	0.2	20	NM_002224	137	0.23	31	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163419	0.38217	.	.	ENSG00000096433	ENST00000374316	D	0.92965	-3.14	5.05	5.05	0.67936	.	0.409731	0.25222	N	0.032237	T	0.80116	0.4564	L	0.33485	1.01	0.37828	D	0.928617	B	0.15473	0.013	B	0.14578	0.011	T	0.74728	-0.3567	10	0.23302	T	0.38	-34.9464	11.7843	0.52032	0.2224:0.7776:0.0:0.0	.	1698	Q14573	ITPR3_HUMAN	G	1698	ENSP00000363435:R1698G	ENSP00000363435:R1698G	R	+	1	2	ITPR3	33760398	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	3.709000	0.54853	2.505000	0.84491	0.655000	0.94253	CGG			0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040204.2		NM_002224		G	33652420	C	G	33652420	3	3	7	1	0	0	0	0	1	0	0	0	7937	643	23	5	5242	5	ITPR3	6	33652420	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	406816	33652420	137462647	23	423											
ZNF76	7629	mdanderson.org	37	chr6	35259494	35259494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcgccaccaactataagaAtcacgtgcgcatccacacag	14	5	7	15	3	1	1	1	0	0	1	2	1	2	1	3	0	3	1	3	0	4	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr6:35259494A>G	ENST00000373953.3	+	9	1177	c.911A>G	c.(910-912)aAt>aGt	p.N304S	ZNF76_ENST00000339411.5_Missense_Mutation_p.N304S|ZNF76_ENST00000440666.2_Missense_Mutation_p.N278S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	304					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AACTATAAGAATCACGTGCGC	0.607																																					p.N304S	Esophageal Squamous(52;92 1039 20612 23956 34676)												.	.			0			c.A911G												43	41	42					6																	35259494		2203	4300	6503	SO:0001583	missense	7629	exon9			ATAAGAATCACGT	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.911A>G	6.37:g.35259494A>G	ENSP00000363064:p.Asn304Ser		26	0	0		18	0.17	3	NM_003427	60	0	0	Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774283	0.90108	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000208	T	0.14874	0.0359	N	0.11106	0.095	0.58432	D	0.999991	D;D;D	0.76494	0.997;0.996;0.999	D;D;D	0.83275	0.985;0.99;0.996	T	0.23691	-1.0181	10	0.59425	D	0.04	.	14.2576	0.66062	1.0:0.0:0.0:0.0	.	304;304;304	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	S	304;304;304;304;278;304	ENSP00000419106:N304S;ENSP00000363064:N304S;ENSP00000392243:N278S;ENSP00000344097:N304S	ENSP00000344097:N304S	N	+	2	0	ZNF76	35367472	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.100000	0.94213	2.145000	0.66743	0.533000	0.62120	AAT			0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040279.2		NM_003427		G	35259494	A	G	35259494	3	3	7	1	0	0	0	0	1	0	0	0	18158	101	4	4	941	4	ZNF76	6	35259494	Missense_Mutation	SNP	A	TCGA-2G-AAFG-01A-11D-A42Y-10	1607074	35259494	135855573	24	424											
ANKIB1	54467	mdanderson.org	37	chr7	91991528	91991528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagcacatgagccttGtgactgccaaacatggaaga	13	8	12	8	0	0	4	0	3	0	1	0	5	0	5	2	2	4	1	2	2	3	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr7:91991528G>T	ENST00000265742.3	+	10	1803	c.1427G>T	c.(1426-1428)tGt>tTt	p.C476F		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	476							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATGAGCCTTGTGACTGCCAA	0.353																																					p.C476F													.	.			0			c.G1427T												74	68	70					7																	91991528		1844	4096	5940	SO:0001583	missense	54467	exon10			AGCCTTGTGACTG	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1427G>T	7.37:g.91991528G>T	ENSP00000265742:p.Cys476Phe		37	0	0		52	0.06	3	NM_019004	73	0	0	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707642	0.89018	.	.	ENSG00000001629	ENST00000265742	T	0.62941	-0.01	4.93	4.93	0.64822	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.81245	0.4782	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84727	0.0743	10	0.87932	D	0	.	16.6952	0.85333	0.0:0.0:1.0:0.0	.	476	Q9P2G1	AKIB1_HUMAN	F	476	ENSP00000265742:C476F	ENSP00000265742:C476F	C	+	2	0	ANKIB1	91829464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.526000	0.98042	2.442000	0.82660	0.655000	0.94253	TGT			0.353	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342018.1				T	91991528	G	T	91991528	3	4	7	1	0	0	0	0	1	0	0	0	630	1377	48	3	1461	3	ANKIB1	7	91991528	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		91991528	67147135	25	425											
PTCD1	26024	mdanderson.org	37	chr7	99032854	99032854	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaacagtcgagcgagtctCacgaagtccatttctggctt	9	10	11	11	4	2	0	1	0	2	0	5	4	3	0	1	1	2	1	1	1	2	2	rs373379334		TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr7:99032854C>A	ENST00000292478.4	-	2	262	c.12G>T	c.(10-12)gtG>gtT	p.V4V	PTCD1_ENST00000555673.1_Silent_p.V53V|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.V53V|PTCD1_ENST00000485746.1_5'Flank|ATP5J2-PTCD1_ENST00000437572.1_5'UTR	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	4					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)			GAGCGAGTCTCACGAAGTCCA	0.552																																					p.V53V													.	.			0			c.G159T												52	57	55					7																	99032854		2203	4299	6502	SO:0001819	synonymous_variant	100526740	exon3			GAGTCTCACGAAG	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.12G>T	7.37:g.99032854C>A			16	0	0		14	0.14	2	NM_001198879	77	0	0	Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	37	CCDS34691.1																																																																																					0.552	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336391.1		NM_015545		A	99032854	C	A	99032854	2	1	7	1	0	0	0	0	0	0	0	1	12747	813	29	3		3	PTCD1	7	99032854	Silent	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	7041326	99032854	60105809	26	426											
FLNC	2318	broad.mit.edu;ucsc.edu	37	chr7	128490068	128490068	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgaggaggagccctctgaAgtgccacagctgcgccagcc	9	4	13	15	2	1	1	0	1	1	0	1	4	1	3	4	2	5	1	4	2	1	0			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr7:128490068A>G	ENST00000325888.8	+	31	5499	c.5238A>G	c.(5236-5238)gaA>gaG	p.E1746E	FLNC_ENST00000346177.6_Intron|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1746	Hinge 1.				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						AGCCCTCTGAAGTGCCACAGC	0.716																																					p.E1746E													.	FLNC	339		0			c.A5238G												13	19	17					7																	128490068		2080	4186	6266	SO:0001819	synonymous_variant	2318	exon31			CTCTGAAGTGCCA	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.5238A>G	7.37:g.128490068A>G			13	0	0		16	0.25	4	NM_001458	9	0	0	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																					0.716	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000059948.3				G	128490068	A	G	128490068	2	3	7	1	0	0	0	0	0	0	0	1	5948	69	3	4		4	FLNC	7	128490068	Silent	SNP	A	TCGA-2G-AAFG-01A-11D-A42Y-10	29457214	128490068	30648595	27	427											
DUSP4	1846	mdanderson.org	37	chr8	29207576	29207576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccttagcccgccgccGcacgatggtgttacagcgca	7	6	13	15	5	0	0	0	0	0	0	0	2	0	1	4	2	4	3	4	2	2	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr8:29207576G>A	ENST00000240100.2	-	1	609	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	DUSP4_ENST00000240101.2_5'Flank|RP4-676L2.1_ENST00000567818.1_RNA	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	74	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|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)|protein dephosphorylation (GO:0006470)|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)	nucleoplasm (GO:0005654)|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)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCCCGCCGCCGCACGATGGTG	0.682																																					p.R74W													.	.			0			c.C220T												15	17	16					8																	29207576		2185	4285	6470	SO:0001583	missense	1846	exon1			GCCGCCGCACGAT	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.220C>T	8.37:g.29207576G>A	ENSP00000240100:p.Arg74Trp		33	0	0		43	0.07	3	NM_001394	10	0	0	B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574644	0.86542	.	.	ENSG00000120875	ENST00000240100	T	0.46063	0.88	3.89	3.89	0.44902	Rhodanese-like (5);	0.123056	0.53938	D	0.000054	T	0.62196	0.2408	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65455	-0.6164	10	0.72032	D	0.01	.	9.1045	0.36689	0.0:0.0:0.7818:0.2182	.	74	Q13115	DUS4_HUMAN	W	74	ENSP00000240100:R74W	ENSP00000240100:R74W	R	-	1	2	DUSP4	29263495	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	2.576000	0.46033	2.456000	0.83038	0.491000	0.48974	CGG			0.682	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257249.1		NM_001394		A	29207576	G	A	29207576	3	1	7	1	0	0	0	0	1	0	0	0	4832	1086	38	1	1144	1	DUSP4	8	29207576	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		29207576	117156446	28	428											
UBR5	51366	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	103277378	103277378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttctgtgttcttgccaggCcttggagtataaaatcctct	7	15	9	10	0	3	0	0	0	3	0	4	1	4	1	3	2	1	3	3	2	3	6			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr8:103277378C>A	ENST00000520539.1	-	53	8157	c.7551G>T	c.(7549-7551)agG>agT	p.R2517S	UBR5_ENST00000521922.1_Missense_Mutation_p.R2510S|UBR5_ENST00000518205.1_Missense_Mutation_p.R245S|UBR5_ENST00000220959.4_Missense_Mutation_p.R2516S	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2517	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			TCTTGCCAGGCCTTGGAGTAT	0.358																																					p.R2517S	Ovarian(131;96 1741 5634 7352 27489)												.	.			0			c.G7551T												118	116	117					8																	103277378		2203	4300	6503	SO:0001583	missense	51366	exon53			GCCAGGCCTTGGA	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.7551G>T	8.37:g.103277378C>A	ENSP00000429084:p.Arg2517Ser		115	0	0		155	0.1	16	NM_015902	124	0.16	20	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752675	0.69533	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.26	-1.61	0.08399	HECT (4);	0.058419	0.64402	N	0.000003	T	0.56645	0.1999	L	0.55743	1.74	0.42024	D	0.990997	D;D	0.53462	0.96;0.96	P;P	0.61477	0.889;0.889	T	0.56092	-0.8036	10	0.87932	D	0	.	6.569	0.22529	0.0:0.419:0.2143:0.3667	.	2510;2517	E7EMW7;O95071	.;UBR5_HUMAN	S	2517;2516;245;2510	ENSP00000429084:R2517S;ENSP00000220959:R2516S;ENSP00000428693:R245S;ENSP00000427819:R2510S	ENSP00000220959:R2516S	R	-	3	2	UBR5	103346554	0.724000	0.28038	0.992000	0.48379	0.994000	0.84299	-0.118000	0.10692	-0.275000	0.09219	-0.140000	0.14226	AGG			0.358	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000380075.2		NM_015902		A	103277378	C	A	103277378	3	1	7	1	0	0	0	0	1	0	0	0	16929	738	26	2	876	2	UBR5	8	103277378	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	74069802	103277378	43086644	29	429											
ADCY8	114	mdanderson.org	37	chr8	131880105	131880105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttaccttgaagaaggaaGcaaactttgtattgccgtga	13	12	9	7	1	0	3	0	2	0	1	0	4	0	4	2	1	4	2	2	1	6	6			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr8:131880105G>T	ENST00000286355.5	-	9	4289	c.2197C>A	c.(2197-2199)Ctt>Att	p.L733I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	733					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)			GAAGAAGGAAGCAAACTTTGT	0.348										HNSCC(32;0.087)																											p.L733I													.	.			0			c.C2197A												90	81	84					8																	131880105		2203	4300	6503	SO:0001583	missense	114	exon9			AAGGAAGCAAACT	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.2197C>A	8.37:g.131880105G>T	ENSP00000286355:p.Leu733Ile		43	0	0		41	0.07	3	NM_001115	0		0		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	7.705	0.693942	0.15039	.	.	ENSG00000155897	ENST00000286355	T	0.36878	1.23	5.9	5.9	0.94986	.	0.058076	0.64402	D	0.000001	T	0.24736	0.0600	N	0.16567	0.415	0.80722	D	1	B	0.18013	0.025	B	0.15052	0.012	T	0.08351	-1.0726	10	0.13108	T	0.6	.	17.776	0.88508	0.0:0.0:1.0:0.0	.	733	P40145	ADCY8_HUMAN	I	733	ENSP00000286355:L733I	ENSP00000286355:L733I	L	-	1	0	ADCY8	131949287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.078000	0.76821	2.806000	0.96561	0.655000	0.94253	CTT			0.348	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380080.1				T	131880105	G	T	131880105	3	4	7	1	0	0	0	0	1	0	0	0	300	971	34	2	1598	2	ADCY8	8	131880105	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	28602727	131880105	14483917	30	430											
RHPN1	114822	mdanderson.org	37	chr8	144462334	144462334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgcaggagctggaggagcGcaggcagcttggtaaggcgc	8	4	19	10	3	0	0	0	0	0	0	0	3	0	3	1	6	3	6	1	6	1	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr8:144462334G>A	ENST00000289013.6	+	10	1306	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	427	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTGGAGGAGCGCAGGCAGCTT	0.682																																					p.R402H													.	.			0			c.G1205A												8	11	10					8																	144462334		1988	4001	5989	SO:0001583	missense	114822	exon10			AGGAGCGCAGGCA	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1205G>A	8.37:g.144462334G>A	ENSP00000289013:p.Arg402His		21	0	0		28	0.11	3	NM_052924	9	0	0	Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595447	0.46318	.	.	ENSG00000158106	ENST00000289013	T	0.56941	0.43	3.96	2.04	0.26737	.	0.177666	0.47852	N	0.000204	T	0.70090	0.3184	M	0.85777	2.775	0.37549	D	0.918638	D	0.89917	1.0	D	0.76071	0.987	T	0.72001	-0.4422	10	0.72032	D	0.01	-20.4788	7.6973	0.28602	0.0965:0.1653:0.7382:0.0	.	402	Q8TCX5-2	.	H	402	ENSP00000289013:R402H	ENSP00000289013:R402H	R	+	2	0	RHPN1	144533477	0.082000	0.21442	0.869000	0.34112	0.059000	0.15707	1.990000	0.40717	0.233000	0.21120	-0.350000	0.07774	CGC			0.682	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381417.1				A	144462334	G	A	144462334	3	1	7	1	0	0	0	0	1	0	0	0	13373	1087	38	1	1243	1	RHPN1	8	144462334	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	12582229	144462334	1901688	31	431											
ZNF782	158431	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	99581871	99581871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaggctgagcccctggCaagcagaccccgcaatgtca	10	5	10	16	1	2	2	2	1	0	1	2	2	2	2	5	2	2	4	5	2	2	0			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr9:99581871C>A	ENST00000481138.1	-	6	1095	c.434G>T	c.(433-435)tGc>tTc	p.C145F	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_Missense_Mutation_p.C13F	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	145					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)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GAGCCCCTGGCAAGCAGACCC	0.438																																					p.C145F													.	.			0			c.G434T												98	101	100					9																	99581871		2203	4300	6503	SO:0001583	missense	158431	exon6			CCCTGGCAAGCAG	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.434G>T	9.37:g.99581871C>A	ENSP00000419397:p.Cys145Phe		64	0	0		56	0.09	5	NM_001001662	7	0.29	2	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.326|1.326	-0.598082|-0.598082	0.03744|0.03744	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338;ENST00000478850|ENST00000289032	T;T;T|.	0.04654|.	3.66;3.58;6.19|.	3.53|3.53	-1.82|-1.82	0.07857|0.07857	.|.	0.950157|.	0.08533|.	N|.	0.931676|.	T|T	0.06781|0.06781	0.0173|0.0173	N|N	0.00677|0.00677	-1.265|-1.265	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.34976|0.34976	-0.9807|-0.9807	9|5	.|.	.|.	.|.	.|.	2.8884|2.8884	0.05668|0.05668	0.3397:0.3154:0.0:0.3449|0.3397:0.3154:0.0:0.3449	.|.	145|.	Q6ZMW2|.	ZN782_HUMAN|.	F|F	145;13;145|133	ENSP00000419397:C145F;ENSP00000440624:C13F;ENSP00000417577:C145F|.	.|.	C|L	-|-	2|3	0|2	ZNF782|ZNF782	98621692|98621692	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.033000|0.033000	0.12548|0.12548	-1.123000|-1.123000	0.03263|0.03263	-0.325000|-0.325000	0.08577|0.08577	-0.250000|-0.250000	0.11733|0.11733	TGC|TTG			0.438	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356810.1		NM_001001662		A	99581871	C	A	99581871	3	1	7	1	0	0	0	0	1	0	0	0	18178	710	25	2	1669	2	ZNF782	9	99581871	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10		99581871	41631560	32	432											
TTF1	7270	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	135275424	135275424	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccccacaagctcacctTgtgctttaaattccttaaac	12	11	5	13	0	1	0	1	0	0	0	2	0	2	0	4	1	3	2	4	1	6	5			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr9:135275424T>C	ENST00000334270.2	-	3	1628	c.1589A>G	c.(1588-1590)cAa>cGa	p.Q530R		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	530					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)		AAGCTCACCTTGTGCTTTAAA	0.448																																					p.Q530R													.	.			0			c.A1589G												135	126	129					9																	135275424		2203	4300	6503	SO:0001583	missense	7270	exon3			TCACCTTGTGCTT	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.1589A>G	9.37:g.135275424T>C	ENSP00000333920:p.Gln530Arg		149	0	0		148	0.21	31	NM_007344	42	0.31	13	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032803	0.75504	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.14893	2.47	5.14	3.96	0.45880	.	0.000000	0.64402	D	0.000006	T	0.29882	0.0747	M	0.63843	1.955	0.35413	D	0.792571	D	0.63880	0.993	P	0.58391	0.838	T	0.38222	-0.9671	10	0.59425	D	0.04	.	8.3523	0.32310	0.1737:0.0:0.0:0.8263	.	530	Q15361	TTF1_HUMAN	R	530	ENSP00000333920:Q530R	ENSP00000245588:Q530R	Q	-	2	0	TTF1	134265245	1.000000	0.71417	0.960000	0.40013	0.916000	0.54674	2.329000	0.43876	1.951000	0.56629	0.460000	0.39030	CAA			0.448	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054784.2		NM_007344		C	135275424	T	C	135275424	3	2	7	1	0	0	0	0	1	0	0	0	16742	1812	63	4	1164	4	TTF1	9	135275424	Missense_Mutation	SNP	T	TCGA-2G-AAFG-01A-11D-A42Y-10	35693553	135275424	5938007	33	433											
DDX31	64794	broad.mit.edu	37	chr9	135537931	135537931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaccgaatgcttctttGgagaaaacattttttgtgcg	10	15	9	7	2	1	1	0	0	1	1	1	3	1	1	1	1	5	2	1	1	4	6			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr9:135537931G>T	ENST00000372159.3	-	2	693	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	DDX31_ENST00000438527.3_Missense_Mutation_p.P52Q|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.P181Q|DDX31_ENST00000544003.1_Missense_Mutation_p.P85Q|DDX31_ENST00000372153.1_Missense_Mutation_p.P181Q	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	181						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATGCTTCTTTGGAGAAAACAT	0.413																																					p.P181Q													.	DDX31	76		0			c.C542A												178	175	176					9																	135537931		2203	4300	6503	SO:0001583	missense	64794	exon2			TTCTTTGGAGAAA	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.542C>A	9.37:g.135537931G>T	ENSP00000361232:p.Pro181Gln		148	0.0067567568	1		144	0.03	5	NM_022779	66	0	0	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487467	0.26686	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532;ENST00000544003	T;T;T;T;T	0.54071	4.42;3.98;4.39;3.56;0.59	5.6	3.75	0.43078	.	0.058655	0.64402	D	0.000002	T	0.52693	0.1750	L	0.34521	1.04	0.40342	D	0.979047	D;D;B	0.53885	0.958;0.963;0.437	P;P;B	0.55508	0.563;0.777;0.091	T	0.50457	-0.8826	10	0.41790	T	0.15	-4.5583	10.712	0.45988	0.0715:0.1318:0.7967:0.0	.	181;181;181	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	Q	181;181;181;52;181;85	ENSP00000361232:P181Q;ENSP00000361226:P181Q;ENSP00000387730:P52Q;ENSP00000310539:P181Q;ENSP00000442425:P85Q	ENSP00000310539:P181Q	P	-	2	0	DDX31	134527752	1.000000	0.71417	0.627000	0.29227	0.107000	0.19398	3.456000	0.53000	0.700000	0.31782	0.655000	0.94253	CCA			0.413	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054794.1		NM_138620		T	135537931	G	T	135537931	3	4	7	1	0	0	0	0	1	0	0	0	4358	1348	47	3	2096	3	DDX31	9	135537931	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	262507	135537931	5675500	34	434											
NOTCH1	4851	mdanderson.org	37	chr9	139399468	139399468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgctccgcacagtccaGcccgtcccactcgcactccg	7	7	7	20	4	0	0	0	0	0	0	5	0	4	0	5	0	3	3	5	0	1	1	rs370713185		TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr9:139399468G>T	ENST00000277541.6	-	26	4750	c.4675C>A	c.(4675-4677)Ctg>Atg	p.L1559M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1559					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1559L(1)|p.L1560L(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACAGTCCAGCCCGTCCCAC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.L1559M				Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	NOTCH1_ENST00000277541,NS,lymphoid_neoplasm,0,2	NOTCH1_ENST00000277541	0	2	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	c.C4675A												17	23	21					9																	139399468		2179	4282	6461	SO:0001583	missense	4851	exon26			AGTCCAGCCCGTC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4675C>A	9.37:g.139399468G>T	ENSP00000277541:p.Leu1559Met		44	0	0		44	0.09	4	NM_017617	29	0	0	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447010	0.63178	.	.	ENSG00000148400	ENST00000277541	T	0.81415	-1.49	4.08	3.16	0.36331	Notch domain (5);	0.000000	0.64402	U	0.000002	D	0.86560	0.5962	M	0.68952	2.095	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.86123	0.1570	10	0.46703	T	0.11	.	11.048	0.47870	0.095:0.0:0.905:0.0	.	1559	P46531	NOTC1_HUMAN	M	1559	ENSP00000277541:L1559M	ENSP00000277541:L1559M	L	-	1	2	NOTCH1	138519289	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	2.601000	0.46249	1.814000	0.52955	0.579000	0.79373	CTG			0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055087.1		NM_017617		T	139399468	G	T	139399468	3	4	7	1	0	0	0	0	1	0	0	0	10564	962	34	2	3028	2	NOTCH1	9	139399468	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	3861537	139399468	1813963	35	435											
TPRN	286262	mdanderson.org	37	chr9	140094386	140094386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggggctggggggcgggtGgagggagggatcccccgact	4	4	22	11	3	0	0	0	0	0	0	1	4	1	3	3	9	0	1	3	9	0	0			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr9:140094386G>T	ENST00000409012.4	-	1	864	c.778C>A	c.(778-780)Cac>Aac	p.H260N	TPRN_ENST00000321773.2_Missense_Mutation_p.H199N|TPRN_ENST00000541945.1_Intron	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	260	Pro-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGGGGCGGGTGGAGGGAGGGA	0.751																																					p.H260N													.	.			0			c.C778A												2	2	2					9																	140094386		547	1295	1842	SO:0001583	missense	286262	exon1			GCGGGTGGAGGGA	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.778C>A	9.37:g.140094386G>T	ENSP00000387100:p.His260Asn		12	0	0		26	0.08	2	NM_001128228	15	0	0	B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.343926	0.24339	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.3	1.39	0.22231	.	.	.	.	.	T	0.27489	0.0675	L	0.29908	0.895	0.22280	N	0.999234	B	0.28026	0.198	B	0.26864	0.074	T	0.17992	-1.0351	8	0.41790	T	0.15	.	5.7452	0.18116	0.3822:0.0:0.6178:0.0	.	260	Q4KMQ1	TPRN_HUMAN	N	58;260;199	.	ENSP00000313704:H199N	H	-	1	0	TPRN	139214207	0.829000	0.29322	0.309000	0.25155	0.935000	0.57460	0.365000	0.20348	-0.002000	0.14469	0.306000	0.20318	CAC			0.751	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000055323.3		NM_173691		T	140094386	G	T	140094386	3	4	7	1	0	0	0	0	1	0	0	0	16445	1348	47	3	1453	3	TPRN	9	140094386	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	694918	140094386	1119045	36	436											
TET1	80312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70412305	70412305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatagaaatagtagtgtacaCcggtaaagaagggaaaagct	18	7	12	4	1	0	2	0	0	0	2	0	4	0	3	1	2	2	4	1	2	10	5	rs376648844		TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr10:70412305C>G	ENST00000373644.4	+	6	4624	c.4415C>G	c.(4414-4416)aCc>aGc	p.T1472S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1472					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						GTAGTGTACACCGGTAAAGAA	0.353																																					p.T1472S													.	.			0			c.C4415G												122	123	123					10																	70412305		2203	4300	6503	SO:0001583	missense	80312	exon6			TGTACACCGGTAA	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.4415C>G	10.37:g.70412305C>G	ENSP00000362748:p.Thr1472Ser		72	0	0		66	0.18	12	NM_030625	69	0.33	23	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411869	0.83340	.	.	ENSG00000138336	ENST00000373644	T	0.36340	1.26	5.84	5.84	0.93424	TET cysteine-rich domain (1);	0.055233	0.64402	D	0.000001	T	0.61135	0.2323	M	0.64170	1.965	0.49582	D	0.999808	D	0.89917	1.0	D	0.85130	0.997	T	0.61013	-0.7148	10	0.87932	D	0	.	20.1579	0.98126	0.0:1.0:0.0:0.0	.	1472	Q8NFU7	TET1_HUMAN	S	1472	ENSP00000362748:T1472S	ENSP00000362748:T1472S	T	+	2	0	TET1	70082311	1.000000	0.71417	0.115000	0.21578	0.684000	0.39900	5.571000	0.67404	2.767000	0.95098	0.555000	0.69702	ACC			0.353	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048354.1		NM_030625		G	70412305	C	G	70412305	3	3	7	1	0	0	0	0	1	0	0	0	15792	507	18	5	4433	5	TET1	10	70412305	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10		70412305	65122442	37	437											
LGI1	9211	broad.mit.edu	37	chr10	95553006	95553006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacactttttcttatttgaAtgatgagtatgtagtcatcg	11	17	8	5	1	2	4	1	3	1	1	3	4	2	4	0	0	0	2	0	0	4	6			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr10:95553006A>G	ENST00000371418.4	+	7	997	c.737A>G	c.(736-738)aAt>aGt	p.N246S	LGI1_ENST00000542308.1_Missense_Mutation_p.N198S|LGI1_ENST00000371413.3_Missense_Mutation_p.N246S	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	246					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)				TCTTATTTGAATGATGAGTAT	0.358																																					p.N246S													.	LGI1	69		0			c.A737G												137	129	132					10																	95553006		2203	4300	6503	SO:0001583	missense	9211	exon7			ATTTGAATGATGA	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.737A>G	10.37:g.95553006A>G	ENSP00000360472:p.Asn246Ser		73	0	0		90	0.04	4	NM_005097	0		0	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	A	9.881	1.201574	0.22121	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	T;T;T	0.80994	-1.44;-1.44;-1.44	5.45	5.45	0.79879	.	0.088163	0.85682	D	0.000000	T	0.70064	0.3181	L	0.39020	1.185	0.53688	D	0.999972	B;B;B	0.21147	0.052;0.049;0.009	B;B;B	0.20184	0.022;0.028;0.017	T	0.64626	-0.6363	10	0.02654	T	1	-10.6813	15.6958	0.77494	1.0:0.0:0.0:0.0	.	198;246;246	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	S	198;246;246	ENSP00000440763:N198S;ENSP00000360472:N246S;ENSP00000360467:N246S	ENSP00000360467:N246S	N	+	2	0	LGI1	95542996	1.000000	0.71417	0.962000	0.40283	0.957000	0.61999	4.286000	0.58995	2.288000	0.76882	0.528000	0.53228	AAT			0.358	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049445.1		NM_005097		G	95553006	A	G	95553006	3	3	7	1	0	0	0	0	1	0	0	0	8766	101	4	4	763	4	LGI1	10	95553006	Missense_Mutation	SNP	A	TCGA-2G-AAFG-01A-11D-A42Y-10	25140701	95553006	39981741	38	438											
MKI67	4288	broad.mit.edu;mdanderson.org	37	chr10	129905196	129905196	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcacgcccactttccccagGgatgtcttgagccgtcgctt	5	12	9	15	3	2	1	1	1	1	0	4	2	3	2	4	1	1	1	4	1	0	4			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr10:129905196G>T	ENST00000368654.3	-	13	5283	c.4908C>A	c.(4906-4908)tcC>tcA	p.S1636S	MKI67_ENST00000368653.3_Silent_p.S1276S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1636	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)				CTTTCCCCAGGGATGTCTTGA	0.498																																					p.S1636S													.	MKI67	363		0			c.C4908A												217	218	218					10																	129905196		2203	4300	6503	SO:0001819	synonymous_variant	4288	exon13			CCCCAGGGATGTC	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.4908C>A	10.37:g.129905196G>T			139	0	0		156	0.04	6	NM_002417	81	0	0	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																					0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000050999.1		NM_002417		T	129905196	G	T	129905196	2	4	7	1	0	0	0	0	0	0	0	1	9614	1219	43	3		3	MKI67	10	129905196	Silent	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	34352190	129905196	5629551	39	439											
RASSF7	8045	mdanderson.org	37	chr11	561874	561874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccaggaagtggtcatcGcactagcccaagcaataggt	11	7	11	12	1	1	0	1	0	0	0	2	1	1	1	3	3	3	2	3	3	5	2	rs371827786		TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr11:561874G>A	ENST00000397583.3	+	2	539	c.106G>A	c.(106-108)Gca>Aca	p.A36T	RASSF7_ENST00000454668.2_Missense_Mutation_p.A36T|RASSF7_ENST00000431809.1_Missense_Mutation_p.A36T|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Missense_Mutation_p.A36T|RASSF7_ENST00000344375.4_Missense_Mutation_p.A36T|C11orf35_ENST00000329451.3_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000524468.1_Intron	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	36	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		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;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTCATCGCACTAGCCCA	0.627																																					p.A36T	Pancreas(184;1170 3913 7268)												.	.			0			c.G106A							G	THR/ALA,THR/ALA,THR/ALA	0,4404		0,0,2202	90	71	78		106,106,106	3.7	1	11		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RASSF7	NM_001143993.1,NM_001143994.1,NM_003475.3	58,58,58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	36/338,36/321,36/374	561874	1,13003	2202	4300	6502	SO:0001583	missense	8045	exon2			GTCATCGCACTAG	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.106G>A	11.37:g.561874G>A	ENSP00000380713:p.Ala36Thr		41	0	0		39	0.08	3	NM_001143994	30	0	0	G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803888	0.90623	0.0	1.16E-4	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668;ENST00000528736	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	3.66	3.66	0.41972	Ras-association (3);	0.059988	0.64402	D	0.000003	T	0.51907	0.1702	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.944;0.967;0.944	T	0.63143	-0.6703	10	0.45353	T	0.12	-4.4257	15.5764	0.76392	0.0:0.0:1.0:0.0	.	36;36;36	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	T	36	ENSP00000403068:A36T;ENSP00000380712:A36T;ENSP00000344226:A36T;ENSP00000380713:A36T;ENSP00000405606:A36T;ENSP00000433165:A36T	ENSP00000344226:A36T	A	+	1	0	RASSF7	551874	1.000000	0.71417	0.961000	0.40146	0.873000	0.50193	9.523000	0.98034	1.885000	0.54596	0.561000	0.74099	GCA			0.627	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254972.2		NM_003475		A	561874	G	A	561874	3	1	7	1	0	0	0	0	1	0	0	0	13114	1087	38	1	108	1	RASSF7	11	561874	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		561874	134444642	40	440											
SLC25A22	79751	mdanderson.org	37	chr11	791955	791955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccagcagggactccGcgatgcccaggaagtagacc	10	3	13	15	2	0	1	0	0	0	1	1	4	1	3	5	2	3	3	5	2	2	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr11:791955G>T	ENST00000320230.5	-	10	1413	c.932C>A	c.(931-933)gCg>gAg	p.A311E	CEND1_ENST00000330106.4_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.A311E|CEND1_ENST00000524587.1_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	311					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)		CAGGGACTCCGCGATGCCCAG	0.721																																					p.A311E	Colon(93;848 1468 3270 23355 49636)												.	.			0			c.C932A												14	13	14					11																	791955		2178	4272	6450	SO:0001583	missense	79751	exon10			GACTCCGCGATGC	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	ENST00000320230.5:c.932C>A	11.37:g.791955G>T	ENSP00000322020:p.Ala311Glu		22	0	0		22	0.09	2	NM_001191060	93	0	0	A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044590	0.55110	.	.	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.78707	-1.2;-1.2	3.87	1.77	0.24775	.	0.144069	0.46145	D	0.000308	T	0.72471	0.3464	L	0.34521	1.04	0.53688	D	0.999972	P	0.43750	0.816	P	0.47573	0.55	T	0.72151	-0.4377	10	0.38643	T	0.18	-16.1951	14.085	0.64949	0.0:0.4514:0.5486:0.0	.	311	Q9H936	GHC1_HUMAN	E	311	ENSP00000322020:A311E;ENSP00000437236:A311E	ENSP00000322020:A311E	A	-	2	0	SLC25A22	781955	0.982000	0.34865	0.113000	0.21522	0.519000	0.34347	2.340000	0.43974	0.946000	0.37632	0.655000	0.94253	GCG			0.721	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257107.2				T	791955	G	T	791955	3	4	7	1	0	0	0	0	1	0	0	0	14508	1087	38	1	43	1	SLC25A22	11	791955	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	230081	791955	134214561	41	441											
TSPAN4	7106	mdanderson.org	37	chr11	864454	864454	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttcttcctgctgctgctGctggtgttcctgctggaggc	2	14	13	12	0	1	0	0	0	1	0	3	1	3	1	2	3	5	7	2	3	0	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr11:864454G>T	ENST00000397404.1	+	5	532	c.273G>T	c.(271-273)ctG>ctT	p.L91L	TSPAN4_ENST00000397408.1_Silent_p.L91L|TSPAN4_ENST00000397406.1_Silent_p.L91L|TSPAN4_ENST00000346501.4_Silent_p.L91L|TSPAN4_ENST00000397396.1_Silent_p.L27L|TSPAN4_ENST00000397411.2_Silent_p.L91L|TSPAN4_ENST00000397397.2_Silent_p.L91L|TSPAN4_ENST00000525201.1_Silent_p.L27L|TSPAN4_ENST00000409543.2_Silent_p.L91L|TSPAN4_ENST00000409531.1_Silent_p.L110L	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	91					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)		TGCTGCTGCTGCTGGTGTTCC	0.672																																					p.L91L													.	.			0			c.G273T												97	94	95					11																	864454		2203	4299	6502	SO:0001819	synonymous_variant	7106	exon5			GCTGCTGCTGGTG	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.273G>T	11.37:g.864454G>T			40	0	0		44	0.07	3	NM_001025237	212	0	0	Q6IAP6	Silent	SNP	ENST00000397404.1	37	CCDS7721.1																																																																																					0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257102.2				T	864454	G	T	864454	2	4	7	1	0	0	0	0	0	0	0	1	16673	1306	46	2		2	TSPAN4	11	864454	Silent	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	72499	864454	134142062	42	442											
DCHS1	8642	mdanderson.org	37	chr11	6653426	6653426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaggtgggatcctcaGacaagcggggactgtgttca	10	7	15	9	1	2	1	2	0	0	1	3	4	3	4	2	5	1	1	2	5	2	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr11:6653426G>T	ENST00000299441.3	-	6	3728	c.3317C>A	c.(3316-3318)tCt>tAt	p.S1106Y	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1106	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)		GGGATCCTCAGACAAGCGGGG	0.607																																					p.S1106Y													.	.			0			c.C3317A												101	91	94					11																	6653426		2201	4295	6496	SO:0001583	missense	8642	exon6			TCCTCAGACAAGC	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.3317C>A	11.37:g.6653426G>T	ENSP00000299441:p.Ser1106Tyr		78	0	0		49	0.06	3	NM_003737	17	0	0	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935228	0.52866	.	.	ENSG00000166341	ENST00000299441	T	0.03607	3.87	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.157032	0.30302	N	0.009937	T	0.13884	0.0336	M	0.68593	2.085	0.36655	D	0.877635	D	0.67145	0.996	D	0.74023	0.982	T	0.02115	-1.1211	10	0.37606	T	0.19	.	11.9884	0.53161	0.0:0.2868:0.7132:0.0	.	1106	Q96JQ0	PCD16_HUMAN	Y	1106	ENSP00000299441:S1106Y	ENSP00000299441:S1106Y	S	-	2	0	DCHS1	6610002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.716000	0.54904	2.584000	0.87258	0.561000	0.74099	TCT			0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257258.1		NM_003737		T	6653426	G	T	6653426	3	4	7	1	0	0	0	0	1	0	0	0	4289	942	33	3	6643	3	DCHS1	11	6653426	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	5788972	6653426	128353090	43	443											
ABCC8	6833	bcgsc.ca	37	chr11	17464362	17464362	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagatgttctcccaggcgTacagcttcagcagcttgatg	9	10	12	10	1	2	2	1	1	1	1	3	3	2	3	1	2	4	5	1	2	2	4			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr11:17464362T>C	ENST00000389817.3	-	10	1603	c.1535A>G	c.(1534-1536)tAc>tGc	p.Y512C	ABCC8_ENST00000528202.1_5'Flank|ABCC8_ENST00000302539.4_Missense_Mutation_p.Y512C			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	512	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	CTCCCAGGCGTACAGCTTCAG	0.602																																					p.Y512C													.	ABCC8	170		0			c.A1535G												100	91	94					11																	17464362		2200	4293	6493	SO:0001583	missense	6833	exon10			CAGGCGTACAGCT	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.1535A>G	11.37:g.17464362T>C	ENSP00000374467:p.Tyr512Cys		56	0	0		38	0	0	NM_000352	0		0	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.754032	0.89843	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.92099	-2.97;-2.97	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.947	D	0.98264	1.0500	10	0.87932	D	0	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	511;512	B7Z4N0;Q09428	.;ABCC8_HUMAN	C	512;512;526	ENSP00000374467:Y512C;ENSP00000303960:Y512C	ENSP00000303960:Y512C	Y	-	2	0	ABCC8	17420938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.029000	0.88807	2.311000	0.77944	0.533000	0.62120	TAC			0.602	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000389093.1		NM_000352		C	17464362	T	C	17464362	3	2	7	1	0	0	0	0	1	0	0	0	58	1638	57	4	3330	4	ABCC8	11	17464362	Missense_Mutation	SNP	T	TCGA-2G-AAFG-01A-11D-A42Y-10	10810936	17464362	117542154	44	444											
BCL9L	283149	mdanderson.org	37	chr11	118771819	118771819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgcccacgttgctcatgGgcattgagctctgatcaggg	6	11	14	10	1	3	2	2	2	1	0	3	2	3	2	1	3	3	4	1	3	0	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr11:118771819G>T	ENST00000334801.3	-	6	3597	c.2633C>A	c.(2632-2634)cCc>cAc	p.P878H	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	878					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)		GTTGCTCATGGGCATTGAGCT	0.627																																					p.P878H													.	.			0			c.C2633A												118	100	106					11																	118771819		2200	4295	6495	SO:0001583	missense	283149	exon6			CTCATGGGCATTG	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.2633C>A	11.37:g.118771819G>T	ENSP00000335320:p.Pro878His		62	0	0		47	0.06	3	NM_182557	13	0	0	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910352	0.52439	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.54279	0.58	5.0	5.0	0.66597	.	0.166245	0.28809	N	0.014078	T	0.41971	0.1182	L	0.29908	0.895	0.39311	D	0.965081	B;B	0.22346	0.001;0.068	B;B	0.15052	0.003;0.012	T	0.43114	-0.9411	10	0.72032	D	0.01	-4.3433	13.8237	0.63338	0.0:0.0:1.0:0.0	.	873;878	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	H	878;841;171;878;878	ENSP00000335320:P878H	ENSP00000335320:P878H	P	-	2	0	BCL9L	118277029	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	6.215000	0.72206	2.299000	0.77371	0.655000	0.94253	CCC			0.627	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389653.1		NM_182557		T	118771819	G	T	118771819	3	4	7	1	0	0	0	0	1	0	0	0	1382	1232	43	3	1878	3	BCL9L	11	118771819	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	101307457	118771819	16234697	45	445											
SLC37A2	219855	mdanderson.org	37	chr11	124951662	124951662	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcagggtgagccagctGagaaccaggacaaccctgag	11	5	13	12	0	1	3	1	3	0	1	1	5	1	4	3	2	5	2	3	2	2	0			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr11:124951662G>T	ENST00000403796.2	+	9	1046	c.745G>T	c.(745-747)Gag>Tag	p.E249*	SLC37A2_ENST00000308074.4_Nonsense_Mutation_p.E249*|SLC37A2_ENST00000407458.1_Nonsense_Mutation_p.E249*|SLC37A2_ENST00000298280.5_Nonsense_Mutation_p.E249*	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	249					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TGAGCCAGCTGAGAACCAGGA	0.617																																					p.E249X	Melanoma(11;373 620 21213 26083 47768)												.	.			0			c.G745T												63	59	60					11																	124951662		2201	4299	6500	SO:0001587	stop_gained	219855	exon9			CCAGCTGAGAACC	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.745G>T	11.37:g.124951662G>T	ENSP00000384407:p.Glu249*		71	0	0		37	0.08	3	NM_198277	19	0	0	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Nonsense_Mutation	SNP	ENST00000403796.2	37	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734953	0.69189	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000308074	.	.	.	4.86	3.66	0.41972	.	0.650943	0.15820	N	0.243041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-3.147	9.0061	0.36113	0.1338:0.0:0.8662:0.0	.	.	.	.	X	249	.	ENSP00000298280:E249X	E	+	1	0	SLC37A2	124456872	0.040000	0.19996	0.006000	0.13384	0.020000	0.10135	1.723000	0.38053	0.925000	0.37094	0.655000	0.94253	GAG			0.617	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000386837.1		XM_166184		T	124951662	G	T	124951662	4	4	7	1	0	0	0	0	0	1	0	0	14621	1291	45	3	779	3	SLC37A2	11	124951662	Nonsense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	6179843	124951662	10054854	46	446											
KRT74	121391	mdanderson.org	37	chr12	52967458	52967458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccctctgccagctgcaCagtaagaagccaggctaccc	10	5	9	17	0	1	1	0	0	1	1	1	1	1	1	5	1	6	4	5	1	3	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr12:52967458C>A	ENST00000305620.2	-	1	151	c.104G>T	c.(103-105)tGt>tTt	p.C35F	KRT74_ENST00000549343.1_Missense_Mutation_p.C35F	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	35	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCAGCTGCACAGTAAGAAGC	0.572																																					p.C35F													.	.			0			c.G104T												57	60	59					12																	52967458		2203	4300	6503	SO:0001583	missense	121391	exon1			GCTGCACAGTAAG	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.104G>T	12.37:g.52967458C>A	ENSP00000307240:p.Cys35Phe		67	0	0		46	0.07	3	NM_175053	0		0	B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.075304	0.00379	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.75154	-0.91;-0.91	4.51	2.63	0.31362	.	0.459334	0.16369	N	0.217385	T	0.55832	0.1945	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.20184	0.028	T	0.47032	-0.9148	10	0.41790	T	0.15	.	9.0256	0.36227	0.0:0.8191:0.0:0.1809	.	35	Q7RTS7	K2C74_HUMAN	F	35	ENSP00000447447:C35F;ENSP00000307240:C35F	ENSP00000307240:C35F	C	-	2	0	KRT74	51253725	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	-0.600000	0.05693	0.576000	0.29452	0.561000	0.74099	TGT			0.572	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405324.1		NM_175053		A	52967458	C	A	52967458	3	1	7	1	0	0	0	0	1	0	0	0	8502	478	17	3	1521	3	KRT74	12	52967458	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10		52967458	80884437	47	447											
ANKS1B	56899	broad.mit.edu;mdanderson.org	37	chr12	100200303	100200303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcattaagttaggatgtGcactgatgatcatttttacc	11	15	8	7	0	2	2	2	2	0	0	2	3	2	3	1	1	3	3	1	1	3	5			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr12:100200303G>T	ENST00000547776.2	-	4	547	c.548C>A	c.(547-549)gCa>gAa	p.A183E	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A183E	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	183						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTTAGGATGTGCACTGATGAT	0.522																																					p.A183E													.	ANKS1B	180		0			c.C548A												135	131	133					12																	100200303		2127	4247	6374	SO:0001583	missense	56899	exon4			GGATGTGCACTGA	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.548C>A	12.37:g.100200303G>T	ENSP00000449629:p.Ala183Glu		149	0	0		113	0.04	5	NM_152788	0		0	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205341	0.95033	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.65178	-0.14;-0.14;-0.14	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.069111	0.56097	D	0.000027	T	0.69735	0.3144	N	0.25789	0.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.976;0.994	T	0.67074	-0.5762	9	.	.	.	-11.0102	19.4821	0.95014	0.0:0.0:1.0:0.0	.	183;183	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	E	183	ENSP00000449629:A183E;ENSP00000331381:A183E;ENSP00000449894:A183E	.	A	-	2	0	ANKS1B	98724434	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.848000	0.99507	2.591000	0.87537	0.557000	0.71058	GCA			0.522	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000408421.3		NM_020140		T	100200303	G	T	100200303	3	4	7	1	0	0	0	0	1	0	0	0	689	1319	46	2	3578	2	ANKS1B	12	100200303	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	47232845	100200303	33651592	48	448											
UBE3B	89910	hgsc.bcm.edu	37	chr12	109972569	109972569	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgccatcagcatgaacacGggctttgaactctcctagct	10	10	8	13	2	2	2	1	2	1	0	3	2	2	2	2	1	5	3	2	1	4	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr12:109972569G>T	ENST00000342494.3	+	28	3784	c.3189G>T	c.(3187-3189)acG>acT	p.T1063T	UBE3B_ENST00000434735.2_Silent_p.T1063T	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1063	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCATGAACACGGGCTTTGAAC	0.617																																					p.T1063T													UBE3B,colon,carcinoma,0,1	UBE3B	0	1	0			c.G3189T												99	87	92					12																	109972569		2203	4300	6503	SO:0001819	synonymous_variant	89910	exon28			GAACACGGGCTTT	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.3189G>T	12.37:g.109972569G>T			61	0	0		65	0.05	3	NM_130466	105	0	0	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	CCDS9129.1																																																																																					0.617	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403119.1		NM_183415		T	109972569	G	T	109972569	2	4	7	1	0	0	0	0	0	0	0	1	16904	1103	39	1		1	UBE3B	12	109972569	Silent	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	9772266	109972569	23879326	49	449											
MED13L	23389	mdanderson.org	37	chr12	116420941	116420941	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcttgtccatcctgtgAgggctgagaagagctctgcc	6	11	11	13	0	2	3	0	2	2	2	5	4	4	3	4	1	2	2	4	1	1	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr12:116420941A>G	ENST00000281928.3	-	21	5142	c.4936T>C	c.(4936-4938)Tca>Cca	p.S1646P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1646						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)		CCATCCTGTGAGGGCTGAGAA	0.522																																					p.S1646P													MED13L,NS,carcinoma,0,1	MED13L	0	1	0			c.T4936C												90	86	87					12																	116420941		2203	4300	6503	SO:0001583	missense	23389	exon21			CCTGTGAGGGCTG	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.4936T>C	12.37:g.116420941A>G	ENSP00000281928:p.Ser1646Pro		74	0	0		57	0.05	3	NM_015335	36	0	0	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	A	9.680	1.149112	0.21288	.	.	ENSG00000123066	ENST00000281928	T	0.74002	-0.8	5.93	2.01	0.26516	.	1.436790	0.03877	N	0.276593	T	0.48077	0.1480	N	0.03608	-0.345	0.19300	N	0.999975	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.24483	T	0.36	.	0.6241	0.00783	0.3645:0.2607:0.1298:0.245	.	1646	Q71F56	MD13L_HUMAN	P	1646	ENSP00000281928:S1646P	ENSP00000281928:S1646P	S	-	1	0	MED13L	114905324	0.925000	0.31364	0.782000	0.31804	0.996000	0.88848	0.909000	0.28558	1.056000	0.40484	0.533000	0.62120	TCA			0.522	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403879.3				G	116420941	A	G	116420941	3	3	7	1	0	0	0	0	1	0	0	0	9447	304	11	4	1740	4	MED13L	12	116420941	Missense_Mutation	SNP	A	TCGA-2G-AAFG-01A-11D-A42Y-10	6448372	116420941	17430954	50	450											
PXN	5829	mdanderson.org	37	chr12	120659472	120659472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcgtccagctccctggtgGcagaggaggccgagatgcgt	6	7	16	12	3	0	2	0	0	0	2	3	4	2	3	3	4	2	3	3	4	0	0			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr12:120659472G>T	ENST00000228307.7	-	6	926	c.785C>A	c.(784-786)gCc>gAc	p.A262D	PXN_ENST00000536957.1_Missense_Mutation_p.A260D|PXN_ENST00000424649.2_Missense_Mutation_p.A262D|PXN_ENST00000267257.7_Missense_Mutation_p.A262D|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000458477.2_Missense_Mutation_p.A129D|PXN_ENST00000397506.3_5'Flank	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	262					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCCTGGTGGCAGAGGAGGC	0.642																																					p.A262D													.	.			0			c.C785A												56	78	70					12																	120659472		2172	4264	6436	SO:0001583	missense	5829	exon6			CTGGTGGCAGAGG	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.785C>A	12.37:g.120659472G>T	ENSP00000228307:p.Ala262Asp		26	0	0		14	0.14	2	NM_001243756	135	0	0	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091107	0.94149	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000541856	T;T;T;T;T	0.68765	0.34;-0.29;0.44;-0.35;0.18	5.59	4.69	0.59074	.	0.056009	0.64402	N	0.000001	T	0.79015	0.4375	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.982;1.0;0.999	D;D;D	0.78314	0.936;0.991;0.98	T	0.81475	-0.0916	10	0.87932	D	0	-13.8406	15.7338	0.77827	0.0:0.0:0.8624:0.1376	.	262;262;262	P49023-2;P49023-3;P49023	.;.;PAXI_HUMAN	D	129;262;262;260;262;21	ENSP00000395536:A129D;ENSP00000228307:A262D;ENSP00000391283:A262D;ENSP00000443887:A260D;ENSP00000267257:A262D	ENSP00000228307:A262D	A	-	2	0	PXN	119143855	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.137000	0.94496	1.316000	0.45131	0.591000	0.81541	GCC			0.642	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000402679.4		NM_002859		T	120659472	G	T	120659472	3	4	7	1	0	0	0	0	1	0	0	0	12875	1203	42	2	1018	2	PXN	12	120659472	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	4238531	120659472	13192423	51	451											
STARD13	90627	mdanderson.org	37	chr13	33701523	33701523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgcaccatgtccagccgtGcttgttggacatggagtgct	7	11	12	11	2	0	0	0	0	0	0	1	2	1	2	3	2	4	4	3	2	1	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr13:33701523G>T	ENST00000336934.5	-	6	2025	c.1909C>A	c.(1909-1911)Cac>Aac	p.H637N	STARD13_ENST00000255486.4_Missense_Mutation_p.H629N|STARD13_ENST00000399365.3_Missense_Mutation_p.H519N	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	637					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTCCAGCCGTGCTTGTTGGAC	0.552																																					p.H637N													.	.			0			c.C1909A												54	46	48					13																	33701523		2203	4300	6503	SO:0001583	missense	90627	exon6			AGCCGTGCTTGTT	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1909C>A	13.37:g.33701523G>T	ENSP00000338785:p.His637Asn		27	0	0		21	0.1	2	NM_178006	6	0	0	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337368	0.81911	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06294	3.32;3.32;3.33	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	M	0.69823	2.125	0.80722	D	1	D;D;P;P	0.76494	0.999;0.997;0.944;0.928	D;D;P;P	0.72982	0.973;0.979;0.76;0.775	T	0.00234	-1.1893	10	0.46703	T	0.11	.	19.1958	0.93689	0.0:0.0:1.0:0.0	.	629;602;637;629	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	N	519;629;637;629	ENSP00000382300:H519N;ENSP00000255486:H629N;ENSP00000338785:H637N	ENSP00000255486:H629N	H	-	1	0	STARD13	32599523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.756000	0.98918	2.552000	0.86080	0.655000	0.94253	CAC			0.552	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276118.2		NM_001243466		T	33701523	G	T	33701523	3	4	7	1	0	0	0	0	1	0	0	0	15279	1319	46	2	1468	2	STARD13	13	33701523	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		33701523	81468355	52	452											
PROZ	8858	mdanderson.org	37	chr13	113813044	113813044	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgtgtggagccctcaGgtaggcatctggcttacctg	6	11	12	12	1	2	0	1	0	1	0	4	1	3	1	3	4	2	3	3	4	2	2	rs1885956		TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr13:113813044G>T	ENST00000375547.2	+	1	77	c.70G>T	c.(70-72)Gta>Tta	p.V24L	PROZ_ENST00000342783.4_Splice_Site_p.A24S	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	24					blood coagulation (GO:0007596)|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 vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	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_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGAGCCCTCAGGTAGGCATCT	0.597																																					p.A24S													.	.			0			c.G70T												124	77	93					13																	113813044		2202	4300	6502	SO:0001630	splice_region_variant	8858	exon1			CCCTCAGGTAGGC	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.70+1G>T	13.37:g.113813044G>T			23	0	0		29	0.1	3	NM_001256134	0		0	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	CCDS9531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.863778|1.863778	0.32884|0.32884	.|.	.|.	ENSG00000126231|ENSG00000126231	ENST00000342783|ENST00000375547	D|D	0.95069|0.96554	-3.6|-4.05	2.47|2.47	2.47|2.47	0.30058|0.30058	.|Gamma-carboxyglutamic acid-rich (GLA) domain (1);	.|.	.|.	.|.	.|.	D|D	0.94424|0.94424	0.8206|0.8206	L|L	0.58583|0.58583	1.82|1.82	0.20307|0.20307	N|N	0.999912|0.999912	B|B	0.14438|0.22276	0.01|0.067	B|B	0.10450|0.29716	0.005|0.106	D|D	0.90450|0.90450	0.4438|0.4438	9|9	0.87932|0.87932	D|D	0|0	.|.	8.4365|8.4365	0.32791|0.32791	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	24|24	P22891-2|P22891	.|PROZ_HUMAN	S|L	24|24	ENSP00000344458:A24S|ENSP00000364697:V24L	ENSP00000344458:A24S|ENSP00000364697:V24L	A|V	+|+	1|1	0|0	PROZ|PROZ	112861045|112861045	0.997000|0.997000	0.39634|0.39634	0.265000|0.265000	0.24526|0.24526	0.170000|0.170000	0.22686|0.22686	2.855000|2.855000	0.48333|0.48333	1.358000|1.358000	0.45922|0.45922	0.313000|0.313000	0.20887|0.20887	GCC|GTA			0.597	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000045845.1		NM_003891	Missense_Mutation	T	113813044	G	T	113813044	5	4	7	1	0	0	0	0	0	0	1	0	12582	1014	35	3	72	3	PROZ	13	113813044	Splice_Site	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	80111521	113813044	1356834	53	453											
CUL4A	8451	bcgsc.ca	37	chr13	113898807	113898807	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgttggacaagatcatgAtcctgttcaggtttatccac	10	12	10	9	1	2	2	2	1	0	1	4	4	4	4	2	3	0	3	2	3	2	4			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr13:113898807A>T	ENST00000375440.4	+	12	1396	c.1312A>T	c.(1312-1314)Atc>Ttc	p.I438F	CUL4A_ENST00000375441.3_Missense_Mutation_p.I338F|CUL4A_ENST00000451881.1_Missense_Mutation_p.I338F|CUL4A_ENST00000326335.4_Missense_Mutation_p.I338F	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	438					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CAAGATCATGATCCTGTTCAG	0.478																																					p.I438F													.	CUL4A	50		0			c.A1312T												81	65	70					13																	113898807		2203	4300	6503	SO:0001583	missense	8451	exon12			ATCATGATCCTGT	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1312A>T	13.37:g.113898807A>T	ENSP00000364589:p.Ile438Phe		213	0	0		150	0	0	NM_001008895	68	0	0	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515694	0.85389	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.77	4.77	0.60923	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.82843	0.5125	M	0.79805	2.47	0.80722	D	1	P;P	0.44090	0.826;0.826	P;P	0.52646	0.705;0.705	D	0.85704	0.1315	10	0.72032	D	0.01	-36.4424	14.5824	0.68300	1.0:0.0:0.0:0.0	.	438;438	Q13619;A8MSH7	CUL4A_HUMAN;.	F	338;338;338;438	ENSP00000364590:I338F;ENSP00000389118:I338F;ENSP00000322132:I338F;ENSP00000364589:I438F	ENSP00000322132:I338F	I	+	1	0	CUL4A	112946808	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	9.119000	0.94362	1.918000	0.55548	0.397000	0.26171	ATC			0.478	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045888.3		NM_003589		T	113898807	A	T	113898807	3	4	7	1	0	0	0	0	1	0	0	0	4059	333	12	5	1358	5	CUL4A	13	113898807	Missense_Mutation	SNP	A	TCGA-2G-AAFG-01A-11D-A42Y-10	85763	113898807	1271071	54	454											
SLC12A6	9990	mdanderson.org	37	chr15	34547512	34547512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatggctgctgcaaatgtgGtaccaagataaaagcagagg	15	7	12	7	0	0	2	0	0	0	2	0	2	0	2	1	3	4	5	1	3	5	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr15:34547512G>T	ENST00000354181.3	-	8	1319	c.827C>A	c.(826-828)aCc>aAc	p.T276N	SLC12A6_ENST00000397707.2_Missense_Mutation_p.T261N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.T267N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.T276N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.T88N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.T88N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.T217N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.T276N|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000290209.5_Missense_Mutation_p.T225N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.T217N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	276					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)	TGCAAATGTGGTACCAAGATA	0.428																																					p.T276N													.	.			0			c.C827A												98	103	101					15																	34547512		2201	4298	6499	SO:0001583	missense	9990	exon7			AATGTGGTACCAA	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.827C>A	15.37:g.34547512G>T	ENSP00000346112:p.Thr276Asn		45	0	0		47	0.06	3	NM_133647	20	0	0	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259212	0.80246	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	5.43	5.43	0.79202	Amino acid permease domain (1);	0.061003	0.64402	N	0.000005	D	0.98163	0.9393	L	0.33753	1.03	0.80722	D	1	B;B;P;D	0.54207	0.281;0.333;0.55;0.965	B;P;B;P	0.61722	0.219;0.449;0.401;0.893	D	0.97832	1.0263	10	0.33940	T	0.23	.	18.1759	0.89761	0.0:0.0:1.0:0.0	.	261;276;225;88	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	N	225;261;267;217;217;88	ENSP00000290209:T225N;ENSP00000380819:T261N;ENSP00000380814:T217N;ENSP00000387725:T217N;ENSP00000390199:T88N	ENSP00000290209:T225N	T	-	2	0	SLC12A6	32334804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.826000	0.97356	0.655000	0.94253	ACC			0.428	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000417991.1		NM_005135		T	34547512	G	T	34547512	3	4	7	1	0	0	0	0	1	0	0	0	14410	1261	44	3	2701	3	SLC12A6	15	34547512	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		34547512	67983880	55	455											
ATP8B4	79895	broad.mit.edu	37	chr15	50223331	50223331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catacctatgacagacatccTttttctggtgttgttgaaat	10	16	7	8	0	1	3	0	2	1	1	2	3	2	3	2	1	1	2	2	1	3	6			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr15:50223331T>C	ENST00000284509.6	-	16	1768	c.1627A>G	c.(1627-1629)Agg>Ggg	p.R543G	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R543G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	543						Golgi apparatus (GO:0005794)|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)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACAGACATCCTTTTTCTGGTG	0.353																																					p.R543G													.	ATP8B4	173		0			c.A1627G												153	140	145					15																	50223331		2196	4295	6491	SO:0001583	missense	79895	exon16			ACATCCTTTTTCT	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1627A>G	15.37:g.50223331T>C	ENSP00000284509:p.Arg543Gly		148	0	0		165	0.02	3	NM_024837	1	0	0	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471095	0.63625	.	.	ENSG00000104043	ENST00000284509	D	0.83914	-1.78	5.61	1.61	0.23674	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	0.94188	0.8135	H	0.99104	4.43	0.45704	D	0.998617	D	0.89917	1.0	D	0.97110	1.0	D	0.94707	0.7888	10	0.87932	D	0	.	11.7285	0.51722	0.0:0.0:0.3749:0.6251	.	543	Q8TF62	AT8B4_HUMAN	G	543	ENSP00000284509:R543G	ENSP00000284509:R543G	R	-	1	2	ATP8B4	48010623	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.030000	0.41108	0.924000	0.37069	0.477000	0.44152	AGG			0.353	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418100.1		NM_024837		C	50223331	T	C	50223331	3	2	7	1	0	0	0	0	1	0	0	0	1197	1608	56	4	2003	4	ATP8B4	15	50223331	Missense_Mutation	SNP	T	TCGA-2G-AAFG-01A-11D-A42Y-10	15675819	50223331	52308061	56	456											
USP8	9101	mdanderson.org	37	chr15	50733583	50733583	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatctttaagacagcaGaagaatgcagattagatcgt	16	10	10	5	1	1	7	0	1	1	6	2	7	1	7	0	0	2	2	0	0	5	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr15:50733583G>T	ENST00000396444.3	+	3	480	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	USP8_ENST00000558892.1_3'UTR|USP8_ENST00000425032.3_Intron|USP8_ENST00000433963.1_Nonsense_Mutation_p.E48*|USP8_ENST00000307179.4_Nonsense_Mutation_p.E48*	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	48	MIT.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TAAGACAGCAGAAGAATGCAG	0.323																																					p.E48X													.	.			0			c.G142T												79	76	77					15																	50733583		2196	4294	6490	SO:0001587	stop_gained	9101	exon3			ACAGCAGAAGAAT	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.142G>T	15.37:g.50733583G>T	ENSP00000379721:p.Glu48*		42	0	0		45	0.07	3	NM_001128610	57	0	0	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Nonsense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	40	7.968036	0.98585	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-27.2439	20.1392	0.98050	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000302239:E48X	E	+	1	0	USP8	48520875	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.282000	0.95840	2.751000	0.94390	0.591000	0.81541	GAA			0.323	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254541.1		NM_005154		T	50733583	G	T	50733583	4	4	7	1	0	0	0	0	0	1	0	0	17113	943	33	3	148	3	USP8	15	50733583	Nonsense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	510252	50733583	51797809	57	457											
HERC1	8925	mdanderson.org	37	chr15	63958659	63958659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttgaaagtctactgcttGggtctgacaaggctgagaca	12	10	12	7	0	2	3	0	3	2	1	2	4	2	3	0	2	2	3	0	2	4	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr15:63958659G>T	ENST00000443617.2	-	41	8306	c.8219C>A	c.(8218-8220)cCa>cAa	p.P2740Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2740					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						TCTACTGCTTGGGTCTGACAA	0.438																																					p.P2740Q													.	.			0			c.C8219A												87	83	84					15																	63958659		1861	4098	5959	SO:0001583	missense	8925	exon41			CTGCTTGGGTCTG	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.8219C>A	15.37:g.63958659G>T	ENSP00000390158:p.Pro2740Gln		56	0	0		51	0.06	3	NM_003922	17	0	0	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822036	0.90873	.	.	ENSG00000103657	ENST00000443617	T	0.29142	1.58	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51576	-0.8688	10	0.87932	D	0	.	19.4859	0.95028	0.0:0.0:1.0:0.0	.	2740	Q15751	HERC1_HUMAN	Q	2740	ENSP00000390158:P2740Q	ENSP00000390158:P2740Q	P	-	2	0	HERC1	61745712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.567000	0.98161	2.680000	0.91292	0.655000	0.94253	CCA			0.438	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418523.1		NM_003922		T	63958659	G	T	63958659	3	4	7	1	0	0	0	0	1	0	0	0	7072	1348	47	3	6518	3	HERC1	15	63958659	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	13225076	63958659	38572733	58	458											
HCN4	10021	mdanderson.org	37	chr15	73660063	73660063	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgatagcggtgtccacCgagggctgctcgcaggaggc	7	8	15	11	3	0	1	0	1	0	0	2	3	1	2	2	4	2	3	2	4	1	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr15:73660063C>A	ENST00000261917.3	-	1	1542	c.549G>T	c.(547-549)tcG>tcT	p.S183S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	183					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGTGTCCACCGAGGGCTGCT	0.781																																					p.S183S													.	.			0			c.G549T																																									SO:0001819	synonymous_variant	10021	exon1			GTCCACCGAGGGC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.549G>T	15.37:g.73660063C>A			16	0	0		16	0.13	2	NM_005477	4	0	0	Q9UMQ7	Silent	SNP	ENST00000261917.3	37	CCDS10248.1																																																																																					0.781	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268900.2		NM_005477		A	73660063	C	A	73660063	2	1	7	1	0	0	0	0	0	0	0	1	7014	639	23	1		1	HCN4	15	73660063	Silent	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	9701404	73660063	28871329	59	459											
PKD1	5310	mdanderson.org	37	chr16	2143982	2143982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggaggcacaccaggccgGcagcaggcgcttccgcagac	9	2	15	15	3	0	1	0	0	0	1	1	2	1	2	3	5	1	5	3	5	0	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr16:2143982G>T	ENST00000262304.4	-	36	10859	c.10651C>A	c.(10651-10653)Ccg>Acg	p.P3551T	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.P3550T|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3551					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						CACCAGGCCGGCAGCAGGCGC	0.701																																					p.P3551T													.	.			0			c.C10651A												17	23	21					16																	2143982		2174	4288	6462	SO:0001583	missense	5310	exon36			AGGCCGGCAGCAG	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.10651C>A	16.37:g.2143982G>T	ENSP00000262304:p.Pro3551Thr		31	0	0		16	0.13	2	NM_001009944	27	0	0	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100358	0.56183	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.67865	-0.29;-0.29	3.61	3.61	0.41365	.	0.060246	0.64402	D	0.000002	T	0.81389	0.4812	M	0.77103	2.36	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84953	0.0872	10	0.72032	D	0.01	.	15.8087	0.78538	0.0:0.0:1.0:0.0	.	3550;3551	P98161-3;P98161	.;PKD1_HUMAN	T	3551;3550;2885	ENSP00000262304:P3551T;ENSP00000399501:P3550T	ENSP00000262304:P3551T	P	-	1	0	PKD1	2083983	1.000000	0.71417	0.991000	0.47740	0.196000	0.23810	8.920000	0.92779	2.030000	0.59900	0.511000	0.50034	CCG			0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341688.1				T	2143982	G	T	2143982	3	4	7	1	0	0	0	0	1	0	0	0	11980	1203	42	2	2304	2	PKD1	16	2143982	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		2143982	88210771	60	460											
GLYR1	84656	mdanderson.org	37	chr16	4855285	4855285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacatatcgttgtcagactgGtccagcgccttggctctttt	6	14	10	11	2	2	1	1	0	1	1	4	2	3	1	2	2	1	2	2	2	1	5			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr16:4855285G>T	ENST00000321919.9	-	16	1690	c.1614C>A	c.(1612-1614)gaC>gaA	p.D538E	GLYR1_ENST00000436648.5_Missense_Mutation_p.D457E|GLYR1_ENST00000381983.3_Missense_Mutation_p.D521E|GLYR1_ENST00000591451.1_Missense_Mutation_p.D532E|ROGDI_ENST00000322048.7_5'Flank	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	538					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TGTCAGACTGGTCCAGCGCCT	0.567																																					p.D538E													.	.			0			c.C1614A												112	94	100					16																	4855285		2197	4300	6497	SO:0001583	missense	84656	exon16			AGACTGGTCCAGC	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1614C>A	16.37:g.4855285G>T	ENSP00000322716:p.Asp538Glu		48	0	0		50	0.06	3	NM_032569	105	0	0	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959444	0.53400	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.29655	1.56;1.56;1.56	4.87	4.87	0.63330	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	L	0.29908	0.895	0.58432	D	0.999998	B;B;B;B	0.28178	0.007;0.007;0.007;0.202	B;B;B;B	0.28709	0.011;0.016;0.027;0.093	T	0.10567	-1.0624	10	0.72032	D	0.01	-18.1943	16.7915	0.85590	0.0:0.0:1.0:0.0	.	457;532;521;538	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	E	538;521;457	ENSP00000322716:D538E;ENSP00000371413:D521E;ENSP00000390276:D457E	ENSP00000322716:D538E	D	-	3	2	GLYR1	4795286	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.563000	0.73964	2.230000	0.72887	0.655000	0.94253	GAC			0.567	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251717.2		NM_032569		T	4855285	G	T	4855285	3	4	7	1	0	0	0	0	1	0	0	0	6497	1252	44	3	51	3	GLYR1	16	4855285	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	2711303	4855285	85499468	61	461											
GPRC5B	51704	mdanderson.org	37	chr16	19871856	19871856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtgtgacttggcggaGcagttgggatctggaataac	8	12	14	7	1	1	1	0	1	1	0	2	4	2	4	1	4	2	2	1	4	2	4			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr16:19871856G>T	ENST00000300571.2	-	4	1369	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A393D|GPRC5B_ENST00000535671.1_Intron|GPRC5B_ENST00000569102.1_5'Flank|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A419D|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A393D	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	393					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						ACTTGGCGGAGCAGTTGGGAT	0.438																																					p.A393D													.	.			0			c.C1178A												108	97	101					16																	19871856		2197	4300	6497	SO:0001583	missense	51704	exon4			GGCGGAGCAGTTG	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.1178C>A	16.37:g.19871856G>T	ENSP00000300571:p.Ala393Asp		62	0	0		53	0.06	3	NM_016235	140	0	0	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422769	0.83559	.	.	ENSG00000167191	ENST00000300571;ENST00000538074;ENST00000537135	T;T	0.33654	1.44;1.4	5.34	5.34	0.76211	.	0.063132	0.64402	D	0.000008	T	0.54549	0.1865	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.46679	-0.9174	9	.	.	.	.	18.3923	0.90487	0.0:0.0:1.0:0.0	.	419;393	B7Z831;Q9NZH0	.;GPC5B_HUMAN	D	393;242;419	ENSP00000300571:A393D;ENSP00000441775:A419D	.	A	-	2	0	GPRC5B	19779357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.094000	0.76944	2.637000	0.89404	0.563000	0.77884	GCT			0.438	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254285.1				T	19871856	G	T	19871856	3	4	7	1	0	0	0	0	1	0	0	0	6740	971	34	2	37	2	GPRC5B	16	19871856	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	15016571	19871856	70482897	62	462											
SMPD3	55512	mdanderson.org	37	chr16	68405129	68405129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtacaggagcttgctgttgGcacctggctccccgctggca	5	10	13	13	1	0	0	0	0	0	0	1	1	1	1	3	4	3	8	3	4	1	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr16:68405129G>T	ENST00000219334.5	-	3	1559	c.956C>A	c.(955-957)gCc>gAc	p.A319D	SMPD3_ENST00000568373.1_Missense_Mutation_p.A319D|SMPD3_ENST00000563226.1_Missense_Mutation_p.A319D|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	319					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTTGCTGTTGGCACCTGGCTC	0.692																																					p.A319D													.	.			0			c.C956A												34	37	36					16																	68405129		2198	4300	6498	SO:0001583	missense	55512	exon3			CTGTTGGCACCTG	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.956C>A	16.37:g.68405129G>T	ENSP00000219334:p.Ala319Asp		34	0	0		35	0.09	3	NM_018667	1	0	0	B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	G	1.005	-0.689664	0.03328	.	.	ENSG00000103056	ENST00000219334	.	.	.	5.2	2.15	0.27550	.	0.680582	0.15514	N	0.258405	T	0.16981	0.0408	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.19583	0.037;0.037;0.037	B;B;B	0.14023	0.01;0.01;0.01	T	0.29305	-1.0016	9	0.12430	T	0.62	-0.7815	5.8797	0.18848	0.1656:0.2983:0.5361:0.0	.	319;319;319	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	D	319	.	ENSP00000219334:A319D	A	-	2	0	SMPD3	66962630	0.995000	0.38212	0.088000	0.20740	0.464000	0.32679	2.800000	0.47900	0.194000	0.20326	-0.379000	0.06801	GCC			0.692	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268895.3		NM_018667		T	68405129	G	T	68405129	3	4	7	1	0	0	0	0	1	0	0	0	14829	1203	42	2	1039	2	SMPD3	16	68405129	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	48533273	68405129	21949624	63	463											
ZC3H18	124245	broad.mit.edu	37	chr16	88664670	88664670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctaatcaccaaagccgAccccttcccgcctaatggtg	9	8	6	18	2	1	0	1	0	0	0	3	1	3	0	7	1	1	0	7	1	3	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr16:88664670A>C	ENST00000301011.5	+	4	973	c.773A>C	c.(772-774)gAc>gCc	p.D258A	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D282A	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	258						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)		ACCAAAGCCGACCCCTTCCCG	0.532																																					p.D258A	Ovarian(121;375 2276 20373 38669)												ZC3H18,NS,carcinoma,+1,1	ZC3H18	90	1	0			c.A773C												75	76	75					16																	88664670		2198	4300	6498	SO:0001583	missense	124245	exon4			AAGCCGACCCCTT	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.773A>C	16.37:g.88664670A>C	ENSP00000301011:p.Asp258Ala		54	0.1666666667	9		45	0.31	14	NM_144604	84	0.07	6	Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848755	0.71603	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.31510	1.52;1.49	5.39	5.39	0.77823	.	0.259903	0.42964	D	0.000626	T	0.27697	0.0681	L	0.34521	1.04	0.47245	D	0.99936	B;B;B	0.33694	0.421;0.167;0.421	B;B;B	0.37601	0.254;0.169;0.254	T	0.05550	-1.0878	10	0.35671	T	0.21	-7.2366	13.9823	0.64313	1.0:0.0:0.0:0.0	.	282;282;258	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	A	258;282;282;141	ENSP00000301011:D258A;ENSP00000416951:D282A	ENSP00000289509:D282A	D	+	2	0	ZC3H18	87192171	1.000000	0.71417	0.913000	0.36048	0.980000	0.70556	8.709000	0.91379	2.037000	0.60232	0.379000	0.24179	GAC			0.532	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000269168.1		NM_144604		C	88664670	A	C	88664670	3	2	7	1	0	0	0	0	1	0	0	0	17591	275	10	4	783	4	ZC3H18	16	88664670	Missense_Mutation	SNP	A	TCGA-2G-AAFG-01A-11D-A42Y-10	20259541	88664670	1690083	64	464											
C1QBP	708	hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	chr17	5336638	5336638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggaatctgtgttgagtGtataattagtatccttccat	11	15	8	7	0	1	1	0	1	1	0	3	2	3	2	3	1	0	3	3	1	6	6			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr17:5336638G>A	ENST00000225698.4	-	5	755	c.674C>T	c.(673-675)aCa>aTa	p.T225I	C1QBP_ENST00000574444.1_Missense_Mutation_p.T121I|CTC-524C5.2_ENST00000575890.1_RNA	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	225					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	TGTGTTGAGTGTATAATTAGT	0.478																																					p.T225I													.	.			0			c.C674T												98	95	96					17																	5336638		2203	4300	6503	SO:0001583	missense	708	exon5			TTGAGTGTATAAT	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein"	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.674C>T	17.37:g.5336638G>A	ENSP00000225698:p.Thr225Ile		136	0	0		130	0.08	11	NM_001212	1771	0.19	328	Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466255	0.84425	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.72118	2.19	0.80722	D	1	P	0.41978	0.767	P	0.46144	0.505	T	0.71027	-0.4711	9	0.46703	T	0.11	-9.1601	17.2517	0.87044	0.0:0.0:1.0:0.0	.	225	Q07021	C1QBP_HUMAN	I	225	.	ENSP00000225698:T225I	T	-	2	0	C1QBP	5277362	1.000000	0.71417	0.971000	0.41717	0.933000	0.57130	7.545000	0.82128	2.655000	0.90218	0.655000	0.94253	ACA			0.478	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439388.1		NM_001212		A	5336638	G	A	5336638	3	1	7	1	0	0	0	0	1	0	0	0	1958	1377	48	3	182	3	C1QBP	17	5336638	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		5336638	75858572	65	465											
ANKRD13B	124930	mdanderson.org	37	chr17	27936112	27936112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtctggcagacacaagcGccgtggtcatggagattgac	9	8	14	10	3	2	3	1	1	1	2	2	4	2	3	1	3	1	1	1	3	1	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr17:27936112G>T	ENST00000394859.3	+	6	728	c.574G>T	c.(574-576)Gcc>Tcc	p.A192S	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	192						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						AGACACAAGCGCCGTGGTCAT	0.672																																					p.A192S													.	.			0			c.G574T												34	40	38					17																	27936112		2203	4300	6503	SO:0001583	missense	124930	exon6			ACAAGCGCCGTGG	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.574G>T	17.37:g.27936112G>T	ENSP00000378328:p.Ala192Ser		34	0	0		44	0.07	3	NM_152345	0		0	Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976671	0.74360	.	.	ENSG00000198720	ENST00000394859	T	0.45276	0.9	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69316	-0.5177	10	0.46703	T	0.11	-14.2015	19.6515	0.95815	0.0:0.0:1.0:0.0	.	192	Q86YJ7	AN13B_HUMAN	S	192	ENSP00000378328:A192S	ENSP00000378328:A192S	A	+	1	0	ANKRD13B	24960238	1.000000	0.71417	0.736000	0.30914	0.057000	0.15508	9.753000	0.98904	2.739000	0.93911	0.655000	0.94253	GCC			0.672	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256077.1		NM_152345		T	27936112	G	T	27936112	3	4	7	1	0	0	0	0	1	0	0	0	642	1087	38	1	596	1	ANKRD13B	17	27936112	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	22599474	27936112	53259098	66	466											
RHOT1	55288	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	30536465	30536465	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctttctaaaaactgctttGtaagttactttttctttatg	9	21	5	6	0	3	0	0	0	3	0	3	0	3	0	0	0	3	3	0	0	6	9			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr17:30536465G>T	ENST00000333942.6	+	18	1978				RHOT1_ENST00000581094.1_3'UTR|RHOT1_ENST00000394692.2_Splice_Site|RHOT1_ENST00000583994.1_Splice_Site|RHOT1_ENST00000354266.3_Intron|RHOT1_ENST00000545287.2_Intron|RHOT1_ENST00000358365.3_Splice_Site	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1						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)|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)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AAACTGCTTTGTAAGTTACTT	0.343																																					.													.	RHOT1	69		0			c.1835+1G>T												66	67	67					17																	30536465		2203	4300	6503	SO:0001627	intron_variant	55288	exon19			TGCTTTGTAAGTT	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1739+1137G>T	17.37:g.30536465G>T			31	0	0		34	0.12	4	NM_001033568	0		0	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Splice_Site	SNP	ENST00000333942.6	37	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230557	0.39399	.	.	ENSG00000126858	ENST00000358365;ENST00000394692	.	.	.	5.95	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6344	0.51196	0.0:0.0:0.8231:0.1769	.	.	.	.	.	-1	.	.	.	+	.	.	RHOT1	27560578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.918000	0.48829	2.824000	0.97209	0.655000	0.94253	.			0.343	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000447097.1		NM_018307		T	30536465	G	T	30536465	1	4	7	0	1	0	0	0	0	0	0	0	13366	1391	48	3		3	RHOT1	17	30536465	Intron	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	2600353	30536465	50658745	67	467											
ERBB2	2064	broad.mit.edu	37	chr17	37884152	37884152	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgcccctcagccccAccctcctcctgccttcagcc	5	7	7	22	0	2	0	2	0	0	0	4	1	4	1	9	1	5	1	9	1	0	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr17:37884152A>C	ENST00000269571.5	+	27	3782	c.3623A>C	c.(3622-3624)cAc>cCc	p.H1208P	ERBB2_ENST00000540147.1_Missense_Mutation_p.H1178P|ERBB2_ENST00000541774.1_Missense_Mutation_p.H1193P|ERBB2_ENST00000445658.2_Missense_Mutation_p.H932P|MIR4728_ENST00000580969.1_RNA|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000584601.1_Missense_Mutation_p.H1178P|ERBB2_ENST00000406381.2_Missense_Mutation_p.H1178P|ERBB2_ENST00000584450.1_3'UTR			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1208					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)	CCTCAGCCCCACCCTCCTCCT	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																											p.H1208P				Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	.	ERBB2	429		0			c.A3623C												50	57	55					17																	37884152		2203	4300	6503	SO:0001583	missense	2064	exon27			AGCCCCACCCTCC	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.3623A>C	17.37:g.37884152A>C	ENSP00000269571:p.His1208Pro		101	0.0594059406	6		123	0.08	10	NM_004448	71	0.03	2	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	A	9.831	1.188352	0.21954	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75260	-0.92;-0.92;-0.89;-0.92;-0.92	4.96	2.58	0.30949	.	.	.	.	.	T	0.55593	0.1930	L	0.29908	0.895	0.50813	D	0.999891	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.55276	-0.8166	9	0.35671	T	0.21	.	2.5122	0.04659	0.5889:0.1824:0.0913:0.1374	.	932;1193;1208	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	P	1178;1193;932;1208;1178	ENSP00000385185:H1178P;ENSP00000446466:H1193P;ENSP00000404047:H932P;ENSP00000269571:H1208P;ENSP00000443562:H1178P	ENSP00000269571:H1208P	H	+	2	0	ERBB2	35137678	0.000000	0.05858	0.994000	0.49952	0.415000	0.31203	0.400000	0.20932	1.855000	0.53841	0.460000	0.39030	CAC			0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445621.2				C	37884152	A	C	37884152	3	2	7	1	0	0	0	0	1	0	0	0	5213	159	6	4	3729	4	ERBB2	17	37884152	Missense_Mutation	SNP	A	TCGA-2G-AAFG-01A-11D-A42Y-10	7347687	37884152	43311058	68	468											
LUC7L3	51747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	48821082	48821082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagattgaagaattagggTctgaaggaaaagtagaagaa	19	8	12	2	0	1	6	0	2	1	4	1	7	1	7	0	2	0	1	0	2	10	4			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr17:48821082T>A	ENST00000505658.1	+	6	631	c.442T>A	c.(442-444)Tct>Act	p.S148T	LUC7L3_ENST00000544170.1_Missense_Mutation_p.S72T|LUC7L3_ENST00000393227.2_Missense_Mutation_p.S148T|LUC7L3_ENST00000240304.1_Missense_Mutation_p.S148T			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	148					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						AGAATTAGGGTCTGAAGGAAA	0.388																																					p.S148T													.	.			0			c.T442A												74	75	75					17																	48821082		2203	4300	6503	SO:0001583	missense	51747	exon6			TTAGGGTCTGAAG		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.442T>A	17.37:g.48821082T>A	ENSP00000425092:p.Ser148Thr		139	0	0		135	0.18	24	NM_006107	463	0.23	107	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.768843	0.31320	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.43688	1.24;1.24;1.24;0.94	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	L	0.27053	0.805	0.80722	D	1	B;B;B	0.25904	0.137;0.0;0.0	B;B;B	0.37304	0.246;0.001;0.002	T	0.16394	-1.0404	10	0.17369	T	0.5	-7.0678	11.6095	0.51052	0.1332:0.0:0.0:0.8668	.	72;148;148	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	T	148;148;148;148;72	ENSP00000425092:S148T;ENSP00000376919:S148T;ENSP00000240304:S148T;ENSP00000444253:S72T	ENSP00000240304:S148T	S	+	1	0	LUC7L3	46176081	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.162000	0.71874	2.201000	0.70794	0.460000	0.39030	TCT			0.388	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368205.2		NM_016424		A	48821082	T	A	48821082	3	1	7	1	0	0	0	0	1	0	0	0	9100	1667	58	5	464	5	LUC7L3	17	48821082	Missense_Mutation	SNP	T	TCGA-2G-AAFG-01A-11D-A42Y-10	10936930	48821082	32374128	69	469											
GGA3	23163	mdanderson.org	37	chr17	73236094	73236094	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttgggagctgcttgaGgagggggctgagggctggag	6	7	23	5	0	0	2	0	2	0	0	0	6	0	6	0	7	3	5	0	7	0	2			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr17:73236094G>T	ENST00000245541.6	-	13	1575	c.1359C>A	c.(1357-1359)tcC>tcA	p.S453S	GGA3_ENST00000538886.1_Silent_p.S331S|GGA3_ENST00000582717.1_Silent_p.S381S|GGA3_ENST00000582486.1_Silent_p.S381S|GGA3_ENST00000578348.1_Silent_p.S331S|GGA3_ENST00000351904.7_Silent_p.S420S	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	453	Poly-Ser.|Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AGCTGCTTGAGGAGGGGGCTG	0.657																																					p.S453S													.	.			0			c.C1359A												17	20	19					17																	73236094		2138	4184	6322	SO:0001819	synonymous_variant	23163	exon13			GCTTGAGGAGGGG	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1359C>A	17.37:g.73236094G>T			43	0	0		43	0.07	3	NM_138619	112	0	0	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	ENST00000245541.6	37	CCDS11717.1																																																																																					0.657	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446645.1		NM_138619		T	73236094	G	T	73236094	2	4	7	1	0	0	0	0	0	0	0	1	6368	987	35	3		3	GGA3	17	73236094	Silent	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	24415012	73236094	7959116	70	470											
DOHH	83475	mdanderson.org	37	chr19	3496779	3496779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggggtccaccagcgtctGcccgatggcatccacctcct	5	9	10	17	2	1	0	0	0	1	0	4	1	4	0	6	3	2	1	6	3	0	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr19:3496779G>T	ENST00000427575.1	-	2	485	c.34C>A	c.(34-36)Cag>Aag	p.Q12K	DOHH_ENST00000250937.3_Missense_Mutation_p.Q12K	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCGTCTGCCCGATGGCA	0.672																																					p.Q12K													DOHH,NS,carcinoma,+2,1	DOHH	2	1	0			c.C34A												34	37	36					19																	3496779		2203	4300	6503	SO:0001583	missense	83475	exon2			GCGTCTGCCCGAT	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"HEAT-like (PBS lyase) repeat containing 1"	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.34C>A	19.37:g.3496779G>T	ENSP00000398882:p.Gln12Lys		18	0	0		33	0.09	3	NM_001145165	95	0	0		Missense_Mutation	SNP	ENST00000427575.1	37	CCDS12108.1	.	.	.	.	.	.	.	.	.	.	G	0.179	-1.064124	0.01934	.	.	ENSG00000129932	ENST00000427575;ENST00000250937	.	.	.	4.28	3.21	0.36854	Armadillo-like helical (1);	0.730757	0.12829	N	0.435760	T	0.11750	0.0286	N	0.01405	-0.89	0.19300	N	0.999974	B	0.02656	0.0	B	0.01281	0.0	T	0.22347	-1.0219	9	0.02654	T	1	-6.9083	10.7584	0.46251	0.0:0.0:0.801:0.199	.	12	Q9BU89	DOHH_HUMAN	K	12	.	ENSP00000250937:Q12K	Q	-	1	0	DOHH	3447779	0.972000	0.33761	0.039000	0.18376	0.518000	0.34316	2.224000	0.42945	0.730000	0.32425	0.561000	0.74099	CAG			0.672	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452932.1		NM_031304		T	3496779	G	T	3496779	3	4	7	1	0	0	0	0	1	0	0	0	4700	1328	46	2	890	2	DOHH	19	3496779	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		3496779	55632204	71	471											
SAFB	6294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	5667118	5667118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggactcccgcgatggctgggGgggctatggctctgacaaga	7	7	17	10	2	1	2	0	1	1	1	2	4	2	3	1	6	0	3	1	6	2	1	rs201604799		TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr19:5667118G>T	ENST00000292123.5	+	18	2503	c.2396G>T	c.(2395-2397)gGg>gTg	p.G799V	SAFB_ENST00000538656.1_Missense_Mutation_p.G641V|SAFB_ENST00000588852.1_Missense_Mutation_p.G799V|SAFB_ENST00000592224.1_Missense_Mutation_p.G798V|SAFB_ENST00000454510.1_Missense_Mutation_p.G730V|SAFB_ENST00000433404.1_Missense_Mutation_p.G629V	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	799	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GATGGCTGGGGGGGCTATGGC	0.652																																					p.G799V	Colon(88;338 1345 6184 8214 20897)												.	.			0			c.G2396T												32	37	35					19																	5667118		2200	4288	6488	SO:0001583	missense	6294	exon18			GCTGGGGGGGCTA	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2396G>T	19.37:g.5667118G>T	ENSP00000292123:p.Gly799Val		124	0	0		126	0.2	25	NM_002967	434	0.31	134	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114538	0.56505	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.11169	2.81;2.97;2.82;2.8	3.89	3.89	0.44902	.	0.114998	0.39687	N	0.001295	T	0.23806	0.0576	M	0.67397	2.05	0.54753	D	0.999986	D;D;D;D;D;D;D	0.57257	0.964;0.964;0.979;0.964;0.964;0.964;0.964	P;P;P;P;P;P;P	0.54270	0.562;0.562;0.747;0.562;0.562;0.562;0.562	T	0.03240	-1.1057	10	0.72032	D	0.01	-21.7955	14.4178	0.67163	0.0:0.0:1.0:0.0	.	598;641;730;798;799;799;798	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	V	730;694;629;799;641	ENSP00000415895:G730V;ENSP00000404545:G629V;ENSP00000292123:G799V;ENSP00000438880:G641V	ENSP00000292123:G799V	G	+	2	0	SAFB	5618118	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.797000	0.62503	1.883000	0.54544	0.555000	0.69702	GGG			0.652	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000451641.2				T	5667118	G	T	5667118	3	4	7	1	0	0	0	0	1	0	0	0	13829	1232	43	3	2466	3	SAFB	19	5667118	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	2170339	5667118	53461865	72	472											
SLC25A23	79085	mdanderson.org	37	chr19	6442129	6442129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggacaggatgtgacgtaGcagacccagcatggacagct	11	6	14	10	1	0	2	0	1	0	1	0	5	0	5	1	3	3	4	1	3	1	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr19:6442129G>T	ENST00000301454.4	-	10	1370	c.1264C>A	c.(1264-1266)Cta>Ata	p.L422I	SLC25A23_ENST00000601760.1_Intron|SLC25A23_ENST00000414491.2_Missense_Mutation_p.L183I	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	422					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ATGTGACGTAGCAGACCCAGC	0.637																																					p.L422I													.	.			0			c.C1264A												24	21	22					19																	6442129		2203	4300	6503	SO:0001583	missense	79085	exon10			GACGTAGCAGACC	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1264C>A	19.37:g.6442129G>T	ENSP00000301454:p.Leu422Ile		43	0	0		44	0.07	3	NM_024103	48	0	0	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081780	0.36758	.	.	ENSG00000125648	ENST00000301454;ENST00000414491	T;T	0.79033	-1.23;-1.23	5.0	1.34	0.21922	Mitochondrial carrier domain (2);	.	.	.	.	T	0.60534	0.2276	N	0.20766	0.605	0.80722	D	1	B;B	0.22003	0.063;0.011	B;B	0.27887	0.084;0.021	T	0.50939	-0.8768	9	0.39692	T	0.17	.	5.6539	0.17633	0.5488:0.0:0.4512:0.0	.	183;422	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	I	422;183	ENSP00000301454:L422I;ENSP00000408814:L183I	ENSP00000301454:L422I	L	-	1	2	SLC25A23	6393129	1.000000	0.71417	0.166000	0.22797	0.985000	0.73830	2.656000	0.46716	0.501000	0.28013	0.448000	0.29417	CTA			0.637	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453325.1		NM_024103		T	6442129	G	T	6442129	3	4	7	1	0	0	0	0	1	0	0	0	14509	962	34	2	146	2	SLC25A23	19	6442129	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	775011	6442129	52686854	73	473											
KIAA1543	57662	mdanderson.org	37	chr19	7677030	7677030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgaggggtccccgaaggcgGtggcttcgtccccagcagcc	5	5	15	16	4	0	0	0	0	0	0	3	2	2	0	6	5	2	2	6	5	1	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr19:7677030G>T	ENST00000160298.4	+	11	1752	c.1651G>T	c.(1651-1653)Gtg>Ttg	p.V551L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.V578L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	551					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCGAAGGCGGTGGCTTCGTC	0.632																																					p.V578L													.	.			0			c.G1732T												22	26	25					19																	7677030		1938	4119	6057	SO:0001583	missense	57662	exon13			AAGGCGGTGGCTT	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1651G>T	19.37:g.7677030G>T	ENSP00000160298:p.Val551Leu		34	0	0		39	0.08	3	NM_001080429	48	0	0	Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	0.103	-1.149758	0.01714	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14144	2.53;2.53	3.29	3.29	0.37713	.	2.376970	0.02896	U	0.134773	T	0.06416	0.0165	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.18241	-1.0343	10	0.16896	T	0.51	-0.8115	9.055	0.36401	0.1186:0.0:0.8814:0.0	.	551;578	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	L	578;551	ENSP00000416797:V578L;ENSP00000160298:V551L	ENSP00000160298:V551L	V	+	1	0	KIAA1543	7583030	0.003000	0.15002	0.005000	0.12908	0.102000	0.19082	1.330000	0.33781	1.773000	0.52216	0.446000	0.29264	GTG			0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459300.1		XM_048362		T	7677030	G	T	7677030	3	4	7	1	0	0	0	0	1	0	0	0	8258	1261	44	3	1782	3	KIAA1543	19	7677030	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	1234901	7677030	51451953	74	474											
CBLC	23624	mdanderson.org	37	chr19	45284237	45284237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactcttccccgggggaaaGtactgtggacacatgtacca	10	8	11	12	1	1	0	0	0	1	0	2	2	2	2	3	3	2	3	3	3	3	3			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr19:45284237G>T	ENST00000270279.3	+	2	492	c.429G>T	c.(427-429)aaG>aaT	p.K143N	CBLC_ENST00000341505.4_Missense_Mutation_p.K143N	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	143	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCGGGGGAAAGTACTGTGGAC	0.627			M		AML																																p.K143N				Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	.	.			0			c.G429T												77	72	74					19																	45284237		2203	4300	6503	SO:0001583	missense	23624	exon2			GGGAAAGTACTGT	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.429G>T	19.37:g.45284237G>T	ENSP00000270279:p.Lys143Asn		55	0	0		48	0.06	3	NM_012116	4	0	0	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	4.176	0.031288	0.08101	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.76316	-1.01;-1.01	5.07	-1.53	0.08611	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	1.345540	0.04824	N	0.437505	T	0.71247	0.3317	L	0.57536	1.79	0.25398	N	0.988468	B;B	0.30361	0.277;0.247	B;B	0.35240	0.146;0.198	T	0.57213	-0.7850	10	0.41790	T	0.15	-9.8315	1.1698	0.01823	0.2735:0.2932:0.2971:0.1362	.	143;143	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	N	143	ENSP00000270279:K143N;ENSP00000340250:K143N	ENSP00000270279:K143N	K	+	3	2	CBLC	49976077	0.000000	0.05858	0.256000	0.24389	0.080000	0.17528	-0.245000	0.08890	0.137000	0.18759	0.491000	0.48974	AAG			0.627	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319732.2		NM_012116		T	45284237	G	T	45284237	3	4	7	1	0	0	0	0	1	0	0	0	2704	1020	36	3	435	3	CBLC	19	45284237	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	37607207	45284237	13844746	75	475											
C20orf46	55321	mdanderson.org	37	chr20	1164436	1164436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaactcatacccctgtgCtggtggcatcactccaccag	9	9	8	15	0	2	0	2	0	0	0	3	0	3	0	4	2	4	3	4	2	2	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr20:1164436C>T	ENST00000381894.3	-	1	681	c.10G>A	c.(10-12)Gca>Aca	p.A4T	TMEM74B_ENST00000481747.1_Intron	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	4						integral component of membrane (GO:0016021)											TACCCCTGTGCTGGTGGCATC	0.483																																					p.A4T													.	.			0			c.G10A												135	123	127					20																	1164436		2203	4300	6503	SO:0001583	missense	55321	exon1			CCTGTGCTGGTGG	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.10G>A	20.37:g.1164436C>T	ENSP00000371318:p.Ala4Thr		44	0.0227272727	1		35	0.11	4	NM_018354	4	0	0	D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	C	7.903	0.734837	0.15574	.	.	ENSG00000125895	ENST00000381894;ENST00000429036	T;T	0.48836	0.85;0.8	3.5	2.54	0.30619	.	.	.	.	.	T	0.22085	0.0532	N	0.02011	-0.69	0.09310	N	1	B	0.20780	0.048	B	0.19391	0.025	T	0.19160	-1.0314	9	0.54805	T	0.06	.	8.9235	0.35625	0.0:0.7718:0.2282:0.0	.	4	Q9NUR3	CT046_HUMAN	T	4	ENSP00000371318:A4T;ENSP00000400552:A4T	ENSP00000371318:A4T	A	-	1	0	C20orf46	1112436	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.158000	0.16422	1.028000	0.39785	0.491000	0.48974	GCA			0.483	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077496.2		NM_018354		T	1164436	C	T	1164436	3	4	7	1	0	0	0	0	1	0	0	0	2115	797	28	2	768	2	C20orf46	20	1164436	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10		1164436	61861084	76	476											
PYGB	5834	mdanderson.org	37	chr20	25262727	25262727	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaataagaccaatggcatcAccccccgccggtggctgctg	10	6	11	14	2	1	2	1	0	0	2	1	2	1	2	5	3	1	3	5	3	3	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr20:25262727A>C	ENST00000216962.4	+	12	1572	c.1462A>C	c.(1462-1464)Acc>Ccc	p.T488P		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	488					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						CAATGGCATCACCCCCCGCCG	0.582																																					p.T488P													.	.			0			c.A1462C												56	62	60					20																	25262727		2203	4300	6503	SO:0001583	missense	5834	exon12			GGCATCACCCCCC		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.1462A>C	20.37:g.25262727A>C	ENSP00000216962:p.Thr488Pro		40	0.175	7		49	0.39	19	NM_002862	980	0.25	246	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085153	0.55861	.	.	ENSG00000100994	ENST00000216962	D	0.94138	-3.36	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98648	1.0678	10	0.87932	D	0	-20.7376	12.8872	0.58051	1.0:0.0:0.0:0.0	.	488	P11216	PYGB_HUMAN	P	488	ENSP00000216962:T488P	ENSP00000216962:T488P	T	+	1	0	PYGB	25210727	1.000000	0.71417	0.959000	0.39883	0.090000	0.18270	8.900000	0.92551	1.767000	0.52121	0.374000	0.22700	ACC			0.582	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078415.2		NM_002862		C	25262727	A	C	25262727	3	2	7	1	0	0	0	0	1	0	0	0	12883	159	6	4	1508	4	PYGB	20	25262727	Missense_Mutation	SNP	A	TCGA-2G-AAFG-01A-11D-A42Y-10	24098291	25262727	37762793	77	477											
DLGAP4	22839	broad.mit.edu	37	chr20	35075236	35075236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccacagctacctgcGtgccatccaggcaggctgct	7	6	11	17	2	0	0	0	0	0	0	1	0	1	0	5	2	6	5	5	2	1	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr20:35075236G>T	ENST00000373907.2	+	6	1743	c.1544G>T	c.(1543-1545)cGt>cTt	p.R515L	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R515L|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R515L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R515L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	515					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)				AGCTACCTGCGTGCCATCCAG	0.652																																					p.R515L													DLGAP4,colon,carcinoma,+1,1	DLGAP4	111	1	0			c.G1544T												34	28	30					20																	35075236		2203	4299	6502	SO:0001583	missense	22839	exon6			ACCTGCGTGCCAT	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.1544G>T	20.37:g.35075236G>T	ENSP00000363014:p.Arg515Leu		122	0	0		107	0.04	4	NM_014902	20	0	0	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37		.	.	.	.	.	.	.	.	.	.	G	36	5.654943	0.96724	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.66	5.66	0.87406	.	0.103029	0.64402	D	0.000003	D	0.95626	0.8578	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95776	0.8813	10	0.87932	D	0	.	18.7402	0.91770	0.0:0.0:1.0:0.0	.	515	Q9Y2H0-1	.	L	515	ENSP00000363023:R515L;ENSP00000384954:R515L;ENSP00000363014:R515L;ENSP00000341633:R515L	ENSP00000341633:R515L	R	+	2	0	DLGAP4	34508650	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	9.869000	0.99810	2.668000	0.90789	0.462000	0.41574	CGT			0.652	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000079025.2		NM_014902		T	35075236	G	T	35075236	3	4	7	1	0	0	0	0	1	0	0	0	4567	1145	40	1	1562	1	DLGAP4	20	35075236	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	9812509	35075236	27950284	78	478											
LAMA5	3911	mdanderson.org	37	chr20	60903333	60903333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcacaggtagggtctGtgagctcctggatgccgggc	5	10	16	10	1	2	1	1	1	1	0	3	2	3	2	2	4	2	2	2	4	1	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr20:60903333G>T	ENST00000252999.3	-	35	4682	c.4616C>A	c.(4615-4617)aCa>aAa	p.T1539K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1539	Laminin EGF-like 14. {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)			GGTAGGGTCTGTGAGCTCCTG	0.657																																					p.T1539K													.	.			0			c.C4616A												23	23	23					20																	60903333		2192	4292	6484	SO:0001583	missense	3911	exon35			GGGTCTGTGAGCT	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.4616C>A	20.37:g.60903333G>T	ENSP00000252999:p.Thr1539Lys		69	0	0		36	0.08	3	NM_005560	65	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219116	0.39201	.	.	ENSG00000130702	ENST00000252999	T	0.54866	0.55	4.48	1.05	0.20165	EGF-like, laminin (3);	0.459431	0.24154	N	0.041045	T	0.53110	0.1776	L	0.59967	1.855	0.09310	N	1	P	0.37914	0.611	P	0.48598	0.583	T	0.46527	-0.9185	10	0.52906	T	0.07	.	5.6292	0.17501	0.2595:0.1419:0.5986:0.0	.	1539	O15230	LAMA5_HUMAN	K	1539	ENSP00000252999:T1539K	ENSP00000252999:T1539K	T	-	2	0	LAMA5	60336728	0.348000	0.24861	0.058000	0.19502	0.578000	0.36192	1.504000	0.35726	0.280000	0.22209	0.462000	0.41574	ACA			0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		T	60903333	G	T	60903333	3	4	7	1	0	0	0	0	1	0	0	0	8624	1377	48	3	6655	3	LAMA5	20	60903333	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	25828097	60903333	2122187	79	479											
SREBF2	6721	mdanderson.org	37	chr22	42293166	42293166	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgctcaagtccgccctggGtaagcacctgcgggtggccc	5	7	14	15	3	1	0	1	0	0	0	2	0	2	0	4	3	3	3	4	3	2	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chr22:42293166G>T	ENST00000361204.4	+	14	2771		c.e14+1		SREBF2_ENST00000491541.1_Splice_Site	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2						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						TCCGCCCTGGGTAAGCACCTG	0.572																																					.													.	.			0			c.2605+1G>T												32	32	32					22																	42293166		2203	4300	6503	SO:0001630	splice_region_variant	6721	exon14			CCCTGGGTAAGCA	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.2605+1G>T	22.37:g.42293166G>T			42	0	0		41	0.07	3	NM_004599	4	0	0	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Splice_Site	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561434	0.27915	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3823	0.87408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SREBF2	40623112	1.000000	0.71417	0.974000	0.42286	0.085000	0.17905	6.372000	0.73123	2.543000	0.85770	0.655000	0.94253	.			0.572	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321956.1		NM_004599	Intron	T	42293166	G	T	42293166	5	4	7	1	0	0	0	0	0	0	1	0	15165	1275	44	3	2660	3	SREBF2	22	42293166	Splice_Site	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		42293166	9011400	80	480											
NAP1L3	4675	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	92927246	92927246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaaaggtgtaacttacaGgctggccaggttttgagaac	12	11	11	7	0	1	1	1	1	0	1	1	2	1	1	1	4	3	3	1	4	4	5			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chrX:92927246G>C	ENST00000373079.3	-	1	1321	c.1058C>G	c.(1057-1059)cCt>cGt	p.P353R	NAP1L3_ENST00000475430.2_Missense_Mutation_p.P346R|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	353					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						GTAACTTACAGGCTGGCCAGG	0.408																																					p.P353R													.	NAP1L3	81		0			c.C1058G												47	44	45					X																	92927246		2203	4300	6503	SO:0001583	missense	4675	exon1			CTTACAGGCTGGC		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.1058C>G	X.37:g.92927246G>C	ENSP00000362171:p.Pro353Arg		98	0.0102040816	1		114	0.26	30	NM_004538	20	0.3	6	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245928	0.39697	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.26067	1.76	3.68	2.81	0.32909	.	0.054104	0.85682	D	0.000000	T	0.39200	0.1069	L	0.48218	1.51	0.35695	D	0.815181	D	0.89917	1.0	D	0.87578	0.998	T	0.48281	-0.9049	10	0.72032	D	0.01	.	8.34	0.32239	0.1234:0.0:0.8766:0.0	.	353	Q99457	NP1L3_HUMAN	R	353;346	ENSP00000362171:P353R	ENSP00000362171:P353R	P	-	2	0	NAP1L3	92813902	1.000000	0.71417	0.434000	0.26772	0.734000	0.41952	3.096000	0.50243	0.931000	0.37242	0.529000	0.55759	CCT			0.408	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057449.1		NM_004538		C	92927246	G	C	92927246	3	2	7	1	0	0	0	0	1	0	0	0	10174	1000	35	5	466	5	NAP1L3	23	92927246	Missense_Mutation	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10		92927246	62343314	81	481											
PNCK	139728	broad.mit.edu	37	chrX	152939604	152939604	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgaggacaggctgacccGgccacttgcccgaaagcagc	9	4	12	16	3	0	1	0	1	0	0	1	4	1	2	4	3	3	2	4	3	1	1			TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chrX:152939604G>T	ENST00000370150.1	-	0	0				PNCK_ENST00000370142.1_Intron|PNCK_ENST00000370145.4_5'Flank|PNCK_ENST00000340888.3_5'Flank|PNCK_ENST00000447676.2_Silent_p.A9A|PNCK_ENST00000393831.2_5'UTR|PNCK_ENST00000475172.1_5'Flank			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							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)					AGGCTGACCCGGCCACTTGCC	0.667																																					p.A9A													.	PNCK	70		0			c.C27A												31	31	31					X																	152939604		1565	3574	5139	SO:0001631	upstream_gene_variant	139728	exon1			TGACCCGGCCACT	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		X.37:g.152939604G>T	Exception_encountered		32	0	0		54	0.07	4	NM_001039582	1	0	0	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37																																																																																						0.667	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000061044.2		NM_198452		T	152939604	G	T	152939604	1	4	7	0	1	0	0	0	0	0	0	0	12162	1103	39	1		1	PNCK	23	152939604	5'Flank	SNP	G	TCGA-2G-AAFG-01A-11D-A42Y-10	60012358	152939604	2330956	82	482											
ABCD1	215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chrX	152991228	152991228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccgtctggtggcccaCgcctaccgcctctacttctc	4	9	9	19	4	3	0	0	0	3	0	4	0	3	0	5	2	3	1	5	2	2	3	rs398123112		TCGA-2G-AAFG-01A-11D-A42Y-10	TCGA-2G-AAFG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bb18732a-4468-45f8-b285-a159c6251ec5	b3717c8e-343c-48c0-8d20-5035da43230c	g.chrX:152991228C>A	ENST00000218104.3	+	1	906	c.507C>A	c.(505-507)caC>caA	p.H169Q	BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000441714.1_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	169	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)					TGGTGGCCCACGCCTACCGCC	0.637																																					p.H169Q													.	.			0			c.C507A												54	47	49					X																	152991228		2203	4299	6502	SO:0001583	missense	215	exon1			GGCCCACGCCTAC	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.507C>A	X.37:g.152991228C>A	ENSP00000218104:p.His169Gln		58	0	0		61	0.16	10	NM_000033	41	0.22	9	Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042981	0.55003	.	.	ENSG00000101986	ENST00000218104	D	0.99701	-6.45	5.37	-9.33	0.00639	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	M	0.92555	3.32	0.58432	D	0.999997	D	0.69078	0.997	D	0.74348	0.983	D	0.99865	1.1088	10	0.66056	D	0.02	-28.4494	21.1647	0.99947	0.0:0.1486:0.0:0.8514	.	169	P33897	ABCD1_HUMAN	Q	169	ENSP00000218104:H169Q	ENSP00000218104:H169Q	H	+	3	2	ABCD1	152644422	0.000000	0.05858	0.307000	0.25127	0.973000	0.67179	-1.768000	0.01794	-2.757000	0.00371	-0.395000	0.06472	CAC			0.637	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061041.1		NM_000033		A	152991228	C	A	152991228	3	1	7	1	0	0	0	0	1	0	0	0	60	535	19	1	509	1	ABCD1	23	152991228	Missense_Mutation	SNP	C	TCGA-2G-AAFG-01A-11D-A42Y-10	51624	152991228	2279332	83	483											
MTHFR	4524	broad.mit.edu	37	chr1	11854879	11854879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggacgtacatcttcctctCggcgcttggggtgggcgctg	3	11	16	11	4	2	0	0	0	2	0	4	1	3	1	1	5	1	3	1	5	1	3			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr1:11854879C>T	ENST00000376592.1	-	6	1201	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MTHFR_ENST00000376590.3_Missense_Mutation_p.R358Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R399Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R399Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	358					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|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)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	ATCTTCCTCTCGGCGCTTGGG	0.612																																					p.R358Q													.	MTHFR	65		0			c.G1073A												65	65	65					1																	11854879		2203	4300	6503	SO:0001583	missense	4524	exon7			TCCTCTCGGCGCT	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1073G>A	1.37:g.11854879C>T	ENSP00000365777:p.Arg358Gln		83	0	0		111	0.04	4	NM_005957	11	0	0	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681909	0.68042	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.91	4.91	0.64330	.	0.050323	0.85682	D	0.000000	T	0.60573	0.2279	L	0.60067	1.865	0.43729	D	0.996218	B;P	0.46784	0.075;0.884	B;B	0.27380	0.03;0.079	T	0.65030	-0.6267	10	0.25751	T	0.34	.	17.4549	0.87604	0.0:1.0:0.0:0.0	.	358;399	P42898;Q5SNW6	MTHR_HUMAN;.	Q	358;399;358;399	ENSP00000365777:R358Q;ENSP00000365767:R399Q;ENSP00000365775:R358Q;ENSP00000365770:R399Q	ENSP00000365767:R399Q	R	-	2	0	MTHFR	11777466	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.253000	0.65452	2.407000	0.81776	0.462000	0.41574	CGA			0.612	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000006538.1		NM_005957		T	11854879	C	T	11854879	3	4	8	1	0	0	0	0	1	0	0	0	9947	884	31	1	921	1	MTHFR	1	11854879	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10		11854879	237395742	1	484											
CROCC	9696	broad.mit.edu	37	chr1	17270665	17270665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagctgcggcaggagcggGagaagctgcaggctgcccag	9	3	19	10	2	0	1	0	0	0	1	0	4	0	3	1	5	6	5	1	5	1	0	rs199948035		TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr1:17270665G>A	ENST00000375541.5	+	14	1948	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGGAGCGGGAGAAGCTGCA	0.716																																					p.E627K													.	CROCC	185		0			c.G1879A												7	7	7					1																	17270665		2132	4179	6311	SO:0001583	missense	9696	exon14			GAGCGGGAGAAGC	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1879G>A	1.37:g.17270665G>A	ENSP00000364691:p.Glu627Lys		75	0.04	3		118	0.05	6	NM_014675	26	0	0		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592217	0.66219	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.13196	2.61	4.48	4.48	0.54585	.	.	.	.	.	T	0.27027	0.0662	M	0.66939	2.045	0.45704	D	0.99861	P;P	0.51537	0.946;0.873	P;B	0.53313	0.723;0.443	T	0.01208	-1.1418	9	0.34782	T	0.22	.	15.4436	0.75208	0.0:0.0:1.0:0.0	.	490;627	A1L0S8;Q5TZA2	.;CROCC_HUMAN	K	627;508	ENSP00000364691:E627K	ENSP00000364691:E627K	E	+	1	0	CROCC	17143252	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.902000	0.69869	2.431000	0.82371	0.561000	0.74099	GAG			0.716	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006249.2		NM_014675		A	17270665	G	A	17270665	3	1	8	1	0	0	0	0	1	0	0	0	3895	1175	41	3	1933	3	CROCC	1	17270665	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	5415786	17270665	231979956	2	485											
UBR4	23352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	19483407	19483407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggagtgcagagagctGcagaacggtgatctgcaaag	12	7	14	8	1	2	3	1	1	1	2	2	5	2	4	0	2	5	4	0	2	2	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr1:19483407G>A	ENST00000375254.3	-	41	5800	c.5773C>T	c.(5773-5775)Cag>Tag	p.Q1925*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q1925*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.Q1925*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q1925*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1925					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)		GCAGAGAGCTGCAGAACGGTG	0.453																																					p.Q1925X													.	.			0			c.C5773T												56	48	51					1																	19483407		2203	4300	6503	SO:0001587	stop_gained	23352	exon41			AGAGCTGCAGAAC	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.5773C>T	1.37:g.19483407G>A	ENSP00000364403:p.Gln1925*		226	0	0		292	0.15	43	NM_020765	25	0.04	1	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	39	7.299759	0.98196	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	.	.	.	X	1925;1925;1925;1925;635;1141	.	ENSP00000364365:Q1925X	Q	-	1	0	UBR4	19355994	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.238000	0.95380	2.777000	0.95525	0.591000	0.81541	CAG			0.453	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007085.1		NM_020765		A	19483407	G	A	19483407	4	1	8	1	0	0	0	0	0	1	0	0	16928	1328	46	2	10042	2	UBR4	1	19483407	Nonsense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	2212742	19483407	229767214	3	486											
PARS2	25973	broad.mit.edu	37	chr1	55224781	55224781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatacccagagagctggcgGctgcaggtggccagggcggg	8	4	18	11	2	0	1	0	0	0	1	0	2	0	1	2	6	3	3	2	6	1	1	rs374449269		TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr1:55224781G>T	ENST00000371279.3	-	2	136	c.54C>A	c.(52-54)agC>agA	p.S18R		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	18					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.S18R(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGAGCTGGCGGCTGCAGGTGG	0.602																																					p.S18R													PARS2,NS,carcinoma,0,2	PARS2	29	2	1	Substitution - Missense(1)	kidney(1)	c.C54A												23	22	23					1																	55224781		2202	4297	6499	SO:0001583	missense	25973	exon2			CTGGCGGCTGCAG	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.54C>A	1.37:g.55224781G>T	ENSP00000360327:p.Ser18Arg		114	0.0087719298	1		133	0.05	7	NM_152268	23	0	0	A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	CCDS597.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.567181	0.00895	.	.	ENSG00000162396	ENST00000371279	T	0.53857	0.6	4.55	1.61	0.23674	.	0.796070	0.11983	N	0.510608	T	0.33000	0.0848	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.30782	0.12	T	0.14671	-1.0464	10	0.12430	T	0.62	-4.5122	8.4699	0.32980	0.2468:0.0:0.7532:0.0	.	18	Q7L3T8	SYPM_HUMAN	R	18	ENSP00000360327:S18R	ENSP00000360327:S18R	S	-	3	2	PARS2	54997369	0.008000	0.16893	0.074000	0.20217	0.011000	0.07611	0.068000	0.14531	0.138000	0.18790	0.467000	0.42956	AGC			0.602	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027436.1		NM_152268		T	55224781	G	T	55224781	3	4	8	1	0	0	0	0	1	0	0	0	11484	1194	42	2	1377	2	PARS2	1	55224781	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	35741374	55224781	194025840	4	487											
RPL5	6125	broad.mit.edu	37	chr1	93300360	93300361	+	Frame_Shift_Ins	INS	-	-	AT																															ttatgcccgtatagagggggINSatatgatagtctgcgcagcg																										TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr1:93300360_93300361insAT	ENST00000370321.3	+	4	304_305	c.214_215insAT	c.(214-216)gatfs	p.D72fs	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	72					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 large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	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)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TATAGAGGGGGATATGATAGTC	0.421																																					p.D72fs													.	RPL5	38		0			c.214_215insAT																																									SO:0001589	frameshift_variant	6125	exon4			GAGGGGGATATGA	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.217_218dupAT	1.37:g.93300363_93300364dupAT	ENSP00000359345:p.Asp72fs		32	0	0		40	0.18	7	NM_000969	2622	0	0	Q32LZ3|Q53HH6|Q9H3F4	Frame_Shift_Ins	INS	ENST00000370321.3	37	CCDS741.1																																																																																					0.421	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030058.2		NM_000969		AT	93300361	-	AT	93300360	7	5	8	1	0	1	1	0	0	0	0	0	13620	1174	41	0	228	0	RPL5	1	93300360	Frame_Shift_Ins	INS	-	TCGA-2G-AAFH-01A-12D-A42Y-10	38075579	93300360	155950261	5	488											
TCHH	7062	broad.mit.edu	37	chr1	152084619	152084621	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcagctgctgctcgcgcctCtcctcctcctgctcgcgcct																								rs369048462|rs376670627		TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr1:152084619_152084621delCTC	ENST00000368804.1	-	2	1071_1073	c.1072_1074delGAG	c.(1072-1074)gagdel	p.E358del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	358	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctctcctcctcctgc	0.724																																					p.358_358del													.	TCHH	275		0			c.1072_1074del									18,2902		2,14,1444						0.8	0			11	42,6426		3,36,3195	no	coding	TCHH	NM_007113.2		5,50,4639	A1A1,A1R,RR		0.6494,0.6164,0.6391				60,9328				SO:0001651	inframe_deletion	7062	exon3			GCGCCTCTCCTCC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1072_1074delGAG	1.37:g.152084625_152084627delCTC	ENSP00000357794:p.Glu358del		10	0	0		25	0.28	7	NM_007113	0		0	Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	CCDS41396.1																																																																																					0.724	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036671.2		NM_007113		-	152084621	CTC	-	152084619	7	5	8	1	0	1	0	1	0	0	0	0	15723	912	32	0	4761	0	TCHH	1	152084619	In_Frame_Del	DEL	CTC	TCGA-2G-AAFH-01A-12D-A42Y-10	58784259	152084619	97166002	6	489											
PCP4L1	654790	broad.mit.edu	37	chr1	161254255	161254255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgatttcagaaaaggaaaaAggatcccagctcctgaatgg	15	7	11	8	1	1	2	1	1	0	1	3	5	3	4	2	3	1	1	2	3	5	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr1:161254255A>G	ENST00000504449.1	+	3	439	c.191A>G	c.(190-192)aAg>aGg	p.K64R		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	64	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAAAGGAAAAAGGATCCCAGC	0.517																																					p.K64R													.	PCP4L1	7		0			c.A191G												57	59	58					1																	161254255		1944	4137	6081	SO:0001583	missense	654790	exon3			GGAAAAAGGATCC	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"purkinje cell protein 4 like 1"				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.191A>G	1.37:g.161254255A>G	ENSP00000426296:p.Lys64Arg		405	0.0049382716	2		534	0.01	5	NM_001102566	0		0	B2RV24|B9EJG4	Missense_Mutation	SNP	ENST00000504449.1	37	CCDS53412.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287629	0.59976	.	.	ENSG00000248485	ENST00000504449	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.49047	0.1534	.	.	.	.	.	.	D	0.58268	0.982	P	0.58013	0.831	T	0.54221	-0.8326	7	0.33940	T	0.23	.	9.2707	0.37670	0.8184:0.1816:0.0:0.0	.	64	A6NKN8	PC4L1_HUMAN	R	64	.	ENSP00000426296:K64R	K	+	2	0	PCP4L1	159520879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.674000	0.61612	2.200000	0.70718	0.459000	0.35465	AAG			0.517	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082986.2				G	161254255	A	G	161254255	3	3	8	1	0	0	0	0	1	0	0	0	11616	72	3	4	201	4	PCP4L1	1	161254255	Missense_Mutation	SNP	A	TCGA-2G-AAFH-01A-12D-A42Y-10	9169636	161254255	87996366	7	490											
MFSD4	148808	broad.mit.edu;mdanderson.org	37	chr1	205538281	205538281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagcgtcttcttcagcttCggcctgtgcatcgccttcct	3	14	10	14	3	3	0	1	0	2	0	6	1	4	1	3	2	3	2	3	2	0	4			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr1:205538281C>T	ENST00000367147.4	+	1	177	c.84C>T	c.(82-84)ttC>ttT	p.F28F	MFSD4_ENST00000536357.1_Silent_p.F28F|MFSD4_ENST00000539267.1_Silent_p.F28F|RNU2-19P_ENST00000517288.1_RNA	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	28					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTTCAGCTTCGGCCTGTGCA	0.687																																					p.F28F													.	MFSD4	46		0			c.C84T												26	18	21					1																	205538281		2170	4224	6394	SO:0001819	synonymous_variant	148808	exon1			CAGCTTCGGCCTG	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.84C>T	1.37:g.205538281C>T			59	0	0		94	0.05	5	NM_181644	0		0	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Silent	SNP	ENST00000367147.4	37	CCDS1455.1																																																																																					0.687	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090391.1		NM_181644		T	205538281	C	T	205538281	2	4	8	1	0	0	0	0	0	0	0	1	9549	883	31	1		1	MFSD4	1	205538281	Silent	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	44284026	205538281	43712340	8	491											
OR2T4	127074	hgsc.bcm.edu	37	chr1	248525639	248525640	+	Missense_Mutation	DNP	AT	AT	CC																															tttcaagctcctatttactcAtcctcctcaccatccacggg																								rs34079073|rs76878172	byFrequency	TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	AT	AT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr1:248525639_248525640AT>CC	ENST00000366475.1	+	1	757_758	c.757_758AT>CC	c.(757-759)ATc>CCc	p.I253P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						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)			CTATTTACTCATCCTCCTCACC	0.52																																					p.I253P													OR2T4,brain,glioma,+1,1	OR2T4	1	1	0			c.T758C																																									SO:0001583	missense	127074	exon1			TTACTCATCCTCC	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	Exception_encountered	1.37:g.248525639_248525640delinsCC	ENSP00000355431:p.Ile253Pro		461	0.0021691974	1		657	0.03	17	NM_001004696	0		0	Q6IEZ8	Missense_Mutation	DNP	ENST00000366475.1	37	CCDS31113.1																																																																																					0.52	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097349.2		NM_001004696		CC	248525640	AT	CC	248525639	3	2	8	1	0	0	0	0	1	0	0	0	11044	217	8	4	759	4	OR2T4	1	248525639	Missense_Mutation	DNP	AT	TCGA-2G-AAFH-01A-12D-A42Y-10	42987358	248525639	724982	9	492											
DNAH6	1768	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	84838859	84838859	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtattttcaatgctccagAcattcagaggcaattgcctg	12	12	8	9	0	2	2	2	0	0	2	3	2	3	2	2	1	2	3	2	1	4	5			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr2:84838859A>T	ENST00000237449.6	+	21	3364	c.3356A>T	c.(3355-3357)gAc>gTc	p.D1119V	DNAH6_ENST00000389394.3_Missense_Mutation_p.D1119V|DNAH6_ENST00000398278.2_Missense_Mutation_p.D1119V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1119	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						AATGCTCCAGACATTCAGAGG	0.438																																					p.D1119V													.	DNAH6	194		0			c.A3356T												62	63	62					2																	84838859		692	1591	2283	SO:0001583	missense	1768	exon22			CTCCAGACATTCA	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.3356A>T	2.37:g.84838859A>T	ENSP00000237449:p.Asp1119Val		497	0.0020120724	1		558	0.14	76	NM_001370	0		0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001535	0.74818	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.71103	-0.54;-0.54;-0.54	5.46	4.29	0.51040	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.88855	0.6550	H	0.97707	4.06	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90816	0.4705	9	0.87932	D	0	.	11.7832	0.52026	0.8526:0.1474:0.0:0.0	.	1119	Q9C0G6	DYH6_HUMAN	V	1119	ENSP00000374045:D1119V;ENSP00000381326:D1119V;ENSP00000237449:D1119V	ENSP00000237449:D1119V	D	+	2	0	DNAH6	84692370	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	8.279000	0.89901	0.874000	0.35823	0.533000	0.62120	GAC			0.438	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328537.2		NM_001370		T	84838859	A	T	84838859	3	4	8	1	0	0	0	0	1	0	0	0	4610	275	10	5	3438	5	DNAH6	2	84838859	Missense_Mutation	SNP	A	TCGA-2G-AAFH-01A-12D-A42Y-10		84838859	158360514	10	493											
CNNM3	26505	mdanderson.org	37	chr2	97482998	97482998	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactgcttcatgctggaCgccagcaccgtgctggactt	8	9	12	12	2	1	1	1	0	0	1	1	4	1	3	2	2	4	4	2	2	1	2			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr2:97482998C>T	ENST00000305510.3	+	1	1012	c.984C>T	c.(982-984)gaC>gaT	p.D328D	CNNM3_ENST00000377060.3_Silent_p.D328D	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	328	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TCATGCTGGACGCCAGCACCG	0.677																																					p.D328D													.	.			0			c.C984T												48	47	47					2																	97482998		2203	4299	6502	SO:0001819	synonymous_variant	26505	exon1			GCTGGACGCCAGC	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.984C>T	2.37:g.97482998C>T			27	0	0		42	0.07	3	NM_017623	33	0	0	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	CCDS2025.1																																																																																					0.677	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252952.2		NM_017623		T	97482998	C	T	97482998	2	4	8	1	0	0	0	0	0	0	0	1	3616	535	19	1		1	CNNM3	2	97482998	Silent	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	12644139	97482998	145716375	11	494											
KIF5C	3800	broad.mit.edu	37	chr2	149866823	149866823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgtatcaaggaggccgtgCgggccaagaacatggccaga	12	5	14	10	3	1	2	1	0	0	2	2	3	1	3	3	4	2	1	3	4	4	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr2:149866823C>T	ENST00000435030.1	+	24	3093	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R814W|KIF5C_ENST00000397413.1_Missense_Mutation_p.R677W			O60282	KIF5C_HUMAN	kinesin family member 5C	909	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGCCGTGCGGGCCAAGAA	0.632																																					p.R909W													.	KIF5C	166		0			c.C2725T												22	27	25					2																	149866823		2169	4287	6456	SO:0001583	missense	3800	exon24			GCCGTGCGGGCCA	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2725C>T	2.37:g.149866823C>T	ENSP00000393379:p.Arg909Trp		214	0	0		261	0.03	7	NM_004522	1	0	0	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	C	19.71	3.879120	0.72294	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.84800	-1.9;-1.9;-1.9	5.42	-0.379	0.12493	.	0.067237	0.56097	D	0.000021	D	0.91317	0.7262	.	.	.	0.46458	D	0.999053	D;D	0.89917	1.0;0.971	D;P	0.78314	0.991;0.709	D	0.90813	0.4703	8	.	.	.	.	16.402	0.83643	0.7923:0.2077:0.0:0.0	.	909;217	O60282;Q59GB8	KIF5C_HUMAN;.	W	909;814;812;677	ENSP00000393379:R909W;ENSP00000410115:R814W;ENSP00000380560:R677W	.	R	+	1	2	KIF5C	149575069	0.543000	0.26434	0.408000	0.26446	0.950000	0.60333	0.796000	0.26986	0.061000	0.16311	0.650000	0.86243	CGG			0.632	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000332562.3		NM_004522		T	149866823	C	T	149866823	3	4	8	1	0	0	0	0	1	0	0	0	8322	759	27	1	2741	1	KIF5C	2	149866823	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	52383825	149866823	93332550	12	495											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179399008	179399008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaattgcaccaccacaggAgatccgggctgctgacacaa	12	6	10	13	2	0	2	0	1	0	1	2	4	1	2	3	2	2	3	3	2	2	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr2:179399008A>T	ENST00000591111.1	-	308	97635	c.97411T>A	c.(97411-97413)Tcc>Acc	p.S32471T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S25047T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31544T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S25239T|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S34112T|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S25172T|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32471					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)			CCACCACAGGAGATCCGGGCT	0.453																																					p.S34112T													.	.			0			c.T102334A												115	112	113					2																	179399008		1949	4157	6106	SO:0001583	missense	7273	exon358			CACAGGAGATCCG	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.97411T>A	2.37:g.179399008A>T	ENSP00000465570:p.Ser32471Thr		131	0	0		181	0.29	53	NM_001267550	0		0	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		.	.	.	.	.	.	.	.	.	.	A	12.60	1.985346	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63417	-0.04;0.19;0.17;0.16	5.48	5.48	0.80851	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46639	0.1403	N	0.08118	0	0.33419	D	0.579631	B;B;B;B	0.22800	0.075;0.075;0.075;0.035	B;B;B;B	0.27715	0.055;0.055;0.082;0.074	T	0.59091	-0.7519	9	0.87932	D	0	.	14.8527	0.70309	1.0:0.0:0.0:0.0	.	25047;25172;25239;32471	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	31544;25047;25239;25172;25044	ENSP00000343764:S31544T;ENSP00000434586:S25047T;ENSP00000340554:S25239T;ENSP00000352154:S25172T	ENSP00000340554:S25239T	S	-	1	0	TTN	179107254	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	5.578000	0.67450	2.213000	0.71641	0.454000	0.30748	TCC			0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		T	179399008	A	T	179399008	3	4	8	1	0	0	0	0	1	0	0	0	16759	304	11	5	5665	5	TTN	2	179399008	Missense_Mutation	SNP	A	TCGA-2G-AAFH-01A-12D-A42Y-10	29532185	179399008	63800365	13	496											
ANO7	50636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	242163124	242163124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacctcctggtgcctgaCatcccagagtctgtggagat	7	10	12	12	0	1	3	0	1	1	2	3	5	3	4	4	3	1	0	4	3	0	0			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr2:242163124C>G	ENST00000274979.8	+	23	2725	c.2622C>G	c.(2620-2622)gaC>gaG	p.D874E		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	874					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TGGTGCCTGACATCCCAGAGT	0.592																																					p.D874E													ANO7,colon,carcinoma,+1,1	ANO7	1	1	0			c.C2622G												68	63	65					2																	242163124		2203	4300	6503	SO:0001583	missense	50636	exon23			GCCTGACATCCCA	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2622C>G	2.37:g.242163124C>G	ENSP00000274979:p.Asp874Glu		129	0	0		212	0.24	50	NM_001001891	5	0.2	1	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092761	0.56075	.	.	ENSG00000146205	ENST00000274979	T	0.68624	-0.34	3.85	2.96	0.34315	.	0.242401	0.31301	N	0.007895	T	0.80385	0.4613	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81837	-0.0749	10	0.54805	T	0.06	.	10.6407	0.45592	0.0:0.9048:0.0:0.0952	.	874	Q6IWH7	ANO7_HUMAN	E	874	ENSP00000274979:D874E	ENSP00000274979:D874E	D	+	3	2	ANO7	241811797	0.558000	0.26554	0.143000	0.22291	0.646000	0.38490	1.028000	0.30128	1.710000	0.51325	0.467000	0.42956	GAC			0.592	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323509.1		NM_001001891		G	242163124	C	G	242163124	3	3	8	1	0	0	0	0	1	0	0	0	702	477	17	5	2784	5	ANO7	2	242163124	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	62764116	242163124	1036249	14	497											
FBXL2	25827	mdanderson.org	37	chr3	33416789	33416789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttttcctcagcgtatcacgGatgaaggtgtggtgcagata	9	12	12	8	2	2	2	2	1	0	1	3	3	3	3	1	3	2	2	1	3	3	4			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr3:33416789G>T	ENST00000484457.1	+	10	758	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	FBXL2_ENST00000538892.1_Missense_Mutation_p.D155Y|FBXL2_ENST00000507198.1_Missense_Mutation_p.D155Y|FBXL2_ENST00000538181.1_Missense_Mutation_p.D139Y|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000542085.1_5'UTR	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						GCGTATCACGGATGAAGGTGT	0.517																																					p.D223Y													.	.			0			c.G667T												127	124	125					3																	33416789		2203	4300	6503	SO:0001583	missense	25827	exon10			ATCACGGATGAAG	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.667G>T	3.37:g.33416789G>T	ENSP00000417601:p.Asp223Tyr		48	0	0		58	0.05	3	NM_012157	0		0		Missense_Mutation	SNP	ENST00000484457.1	37	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369148	0.82463	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000507198	T;T;T;T	0.13901	2.55;2.77;2.77;2.77	4.99	4.99	0.66335	.	0.100830	0.64402	D	0.000003	T	0.54447	0.1859	H	0.97707	4.06	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	0.71797	-0.4484	10	0.87932	D	0	.	17.4115	0.87487	0.0:0.0:1.0:0.0	.	139;118;223	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	Y	223;155;139;155	ENSP00000417601:D223Y;ENSP00000441228:D155Y;ENSP00000440794:D139Y;ENSP00000426163:D155Y	ENSP00000417601:D223Y	D	+	1	0	FBXL2	33391793	1.000000	0.71417	0.861000	0.33841	0.698000	0.40448	9.371000	0.97162	2.718000	0.92993	0.644000	0.83932	GAT			0.517	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253245.2		NM_012157		T	33416789	G	T	33416789	3	4	8	1	0	0	0	0	1	0	0	0	5729	1174	41	3	705	3	FBXL2	3	33416789	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		33416789	164605641	15	498											
STAB1	23166	mdanderson.org	37	chr3	52542370	52542370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccctgctatggcaaaGgcaatgtgagtcccatcctc	10	8	8	15	0	0	1	0	1	0	0	3	1	2	1	5	2	2	3	5	2	4	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr3:52542370G>T	ENST00000321725.6	+	21	2306	c.2230G>T	c.(2230-2232)Ggc>Tgc	p.G744C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	744	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				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)		CTATGGCAAAGGCAATGTGAG	0.572																																					p.G744C													.	.			0			c.G2230T												84	76	79					3																	52542370		2203	4300	6503	SO:0001583	missense	23166	exon21			GGCAAAGGCAATG	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.2230G>T	3.37:g.52542370G>T	ENSP00000312946:p.Gly744Cys		39	0	0		50	0.06	3	NM_015136	16	0	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033821	0.93575	.	.	ENSG00000010327	ENST00000321725	D	0.90844	-2.74	5.71	5.71	0.89125	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96554	0.9410	10	0.87932	D	0	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	744;744	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	C	744	ENSP00000312946:G744C	ENSP00000312946:G744C	G	+	1	0	STAB1	52517410	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.201000	0.89735	2.697000	0.92050	0.563000	0.77884	GGC			0.572	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351380.2		NM_015136		T	52542370	G	T	52542370	3	4	8	1	0	0	0	0	1	0	0	0	15260	1000	35	3	2312	3	STAB1	3	52542370	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	19125581	52542370	145480060	16	499											
PBRM1	55193	broad.mit.edu	37	chr3	52677350	52677350	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctggctgcagccaagttGgatggagtcctatccagaga	10	9	13	9	0	1	1	0	0	1	1	3	4	3	3	3	3	2	3	3	3	2	2			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr3:52677350G>T	ENST00000296302.7	-	9	910	c.909C>A	c.(907-909)tcC>tcA	p.S303S	PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000337303.4_Silent_p.S303S|PBRM1_ENST00000409114.3_Silent_p.S303S|PBRM1_ENST00000409767.1_Silent_p.S303S|PBRM1_ENST00000394830.3_Silent_p.S303S|PBRM1_ENST00000410007.1_Silent_p.S303S|PBRM1_ENST00000409057.1_Silent_p.S303S			Q86U86	PB1_HUMAN	polybromo 1	303					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGCCAAGTTGGATGGAGTCC	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.S303S				Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1	1252		0			c.C909A												119	116	117					3																	52677350		2203	4300	6503	SO:0001819	synonymous_variant	55193	exon10			CAAGTTGGATGGA	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.909C>A	3.37:g.52677350G>T			78	0	0		126	0.03	4	NM_018313	25	0	0	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																						0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000327232.1		NM_018165		T	52677350	G	T	52677350	2	4	8	1	0	0	0	0	0	0	0	1	11508	1335	47	3		3	PBRM1	3	52677350	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	134980	52677350	145345080	17	500											
DHFRL1	200895	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	93779801	93779803	+	In_Frame_Del	DEL	CTT	CTT	-																															acaccttcatattaatcatcCttctcacatacttcaaattt																								rs141897370	byFrequency	TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	CTT	CTT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr3:93779801_93779803delCTT	ENST00000394221.2	-	2	1002_1004	c.553_555delAAG	c.(553-555)aagdel	p.K185del	DHFRL1_ENST00000481631.1_Intron|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000314636.2_In_Frame_Del_p.K185del	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	185	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						ATTAATCATCCTTCTCACATACT	0.379																																					p.185_186del													.	DHFRL1	25		0			c.554_556del																																									SO:0001651	inframe_deletion	200895	exon2			ATCATCCTTCTCA	AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"dihydrofolate reductase pseudogene 4"	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.553_555delAAG	3.37:g.93779801_93779803delCTT	ENSP00000377768:p.Lys185del		98	0	0		94	0.11	10	NM_001195643	2	0	0	D3DN30|Q6P4I9	In_Frame_Del	DEL	ENST00000394221.2	37	CCDS2926.1																																																																																					0.379	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352910.1		NM_176815		-	93779803	CTT	-	93779801	7	5	8	1	0	1	0	1	0	0	0	0	4487	680	24	0	12	0	DHFRL1	3	93779801	In_Frame_Del	DEL	CTT	TCGA-2G-AAFH-01A-12D-A42Y-10	41102451	93779801	104242629	18	501											
SLC1A3	6507	mdanderson.org	37	chr5	36677031	36677031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagagaagctttaaagtgcCcatccaggccaacgaaacgc	15	5	10	11	2	0	1	0	0	0	1	1	4	1	1	3	1	4	1	3	1	6	2			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr5:36677031C>T	ENST00000265113.4	+	6	1081	c.605C>T	c.(604-606)cCc>cTc	p.P202L	SLC1A3_ENST00000381918.3_Missense_Mutation_p.P202L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	202					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTAAAGTGCCCATCCAGGCC	0.398																																					p.P202L													.	.			0			c.C605T												62	58	59					5																	36677031		2203	4300	6503	SO:0001583	missense	6507	exon6			AAGTGCCCATCCA		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.605C>T	5.37:g.36677031C>T	ENSP00000265113:p.Pro202Leu		81	0	0		61	0.05	3	NM_004172	9	0	0	B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274111	0.40194	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.55760	0.51;0.5	6.02	6.02	0.97574	.	0.363870	0.34268	N	0.004114	T	0.45677	0.1354	L	0.41492	1.28	0.49389	D	0.99978	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.21177	-1.0253	10	0.30854	T	0.27	-20.1443	15.8536	0.78956	0.1963:0.8037:0.0:0.0	.	202;202	Q4JCQ8;P43003	.;EAA1_HUMAN	L	202;150;202	ENSP00000265113:P202L;ENSP00000371343:P202L	ENSP00000265113:P202L	P	+	2	0	SLC1A3	36712788	0.597000	0.26874	0.997000	0.53966	0.542000	0.35054	1.144000	0.31565	2.865000	0.98341	0.655000	0.94253	CCC			0.398	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207579.2		NM_004172		T	36677031	C	T	36677031	3	4	8	1	0	0	0	0	1	0	0	0	14456	623	22	3	640	3	SLC1A3	5	36677031	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10		36677031	144238229	19	502											
NSD1	64324	broad.mit.edu	37	chr5	176638303	176638303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacacacaattcagagaaaaAgggagatggcactcagaact	18	5	9	9	0	2	3	2	0	0	3	2	5	2	3	0	2	1	1	0	2	4	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr5:176638303A>G	ENST00000439151.2	+	5	2948	c.2903A>G	c.(2902-2904)aAg>aGg	p.K968R	NSD1_ENST00000347982.4_Missense_Mutation_p.K699R|NSD1_ENST00000354179.4_Missense_Mutation_p.K699R|NSD1_ENST00000361032.4_Missense_Mutation_p.K865R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	968					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)		TCAGAGAAAAAGGGAGATGGC	0.517			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.K968R				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	NSD1_ENST00000439151,colon,carcinoma,0,2	NSD1	416	2	0			c.A2903G												65	66	66					5																	176638303		2203	4300	6503	SO:0001583	missense	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AGAAAAAGGGAGA	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.2903A>G	5.37:g.176638303A>G	ENSP00000395929:p.Lys968Arg		223	0.0044843049	1		210	0.01	3	NM_022455	40	0	0	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.316745	0.01331	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93133	-3.07;-3.07;-3.07;-3.17	4.83	-1.98	0.07480	.	0.630400	0.15556	N	0.256168	T	0.78266	0.4256	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.19817	0.039;0.039;0.023	B;B;B	0.18871	0.023;0.023;0.006	T	0.68074	-0.5505	9	.	.	.	.	5.4943	0.16793	0.5017:0.1509:0.3473:0.0	.	699;865;968	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	699;968;699;865	ENSP00000346111:K699R;ENSP00000395929:K968R;ENSP00000343209:K699R;ENSP00000354310:K865R	.	K	+	2	0	NSD1	176570909	0.976000	0.34144	0.030000	0.17652	0.107000	0.19398	0.281000	0.18810	-0.407000	0.07576	-0.250000	0.11733	AAG			0.517	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253412.2		NM_172349		G	176638303	A	G	176638303	3	3	8	1	0	0	0	0	1	0	0	0	10686	72	3	4	2917	4	NSD1	5	176638303	Missense_Mutation	SNP	A	TCGA-2G-AAFH-01A-12D-A42Y-10	139961272	176638303	4276957	20	503											
HIST1H3C	8352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26045698	26045698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagctccgcgcaagcaGcttgctactaaagcagcccg	11	5	11	14	3	0	0	0	0	0	0	1	0	1	0	2	1	7	7	2	1	5	3			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr6:26045698G>A	ENST00000540144.1	+	1	60	c.60G>A	c.(58-60)caG>caA	p.Q20Q	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	20					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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CGCGCAAGCAGCTTGCTACTA	0.587																																					p.Q20Q													.	.			0			c.G60A												40	43	42					6																	26045698		2203	4300	6503	SO:0001819	synonymous_variant	8352	exon1			CAAGCAGCTTGCT	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.60G>A	6.37:g.26045698G>A			103	0	0		165	0.2	33	NM_003531	27	0.3	8	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000540144.1	37	CCDS4576.1																																																																																					0.587	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040078.1		NM_003531		A	26045698	G	A	26045698	2	1	8	1	0	0	0	0	0	0	0	1	7172	962	34	2		2	HIST1H3C	6	26045698	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		26045698	145069369	21	504											
CDSN	170679	mdanderson.org	37	chr6	31084507	31084507	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccacccaccacctcgtaGccaccataggatttgtctac	10	8	7	16	1	1	0	0	0	1	0	2	2	1	1	6	1	3	1	6	1	3	4			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr6:31084507G>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.G295G	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CCACCTCGTAGCCACCATAGG	0.552																																					p.G295G													.	.			0			c.C885A												35	34	34					6																	31084507		1928	3845	5773	SO:0001627	intron_variant	1041	exon2			CTCGTAGCCACCA	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1839G>T	6.37:g.31084507G>T			32	0	0		49	0.06	3	NM_001264	0		0	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	CCDS34390.1																																																																																					0.552	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076110.3		NM_014068		T	31084507	G	T	31084507	1	4	8	0	1	0	0	0	0	0	0	0	3181	958	34	2		2	CDSN	6	31084507	Intron	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	5038809	31084507	140030560	22	505											
CUL9	23113	mdanderson.org	37	chr6	43153342	43153342	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgagggcattcatctGcctcaggtacactgccagct	7	11	10	13	0	3	1	2	1	1	0	3	1	3	1	3	2	4	3	3	2	1	3			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr6:43153342G>T	ENST00000252050.4	+	3	828	c.744G>T	c.(742-744)ctG>ctT	p.L248L	CUL9_ENST00000372647.2_Silent_p.L248L|CUL9_ENST00000354495.3_Silent_p.L248L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	248					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						GCATTCATCTGCCTCAGGTAC	0.473																																					p.L248L													.	.			0			c.G744T												105	81	89					6																	43153342		2203	4300	6503	SO:0001819	synonymous_variant	23113	exon3			TCATCTGCCTCAG	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.744G>T	6.37:g.43153342G>T			24	0	0		32	0.09	3	NM_015089	6	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																					0.473	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040582.2		NM_015089		T	43153342	G	T	43153342	2	4	8	1	0	0	0	0	0	0	0	1	4063	1306	46	2		2	CUL9	6	43153342	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	12068835	43153342	127961725	23	506											
POPDC3	64208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	105609640	105609640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagacataaaggagccCgaagaatccactgccaccca	16	4	8	13	1	0	3	0	1	0	2	1	5	1	4	4	1	2	0	4	1	5	1	rs567589295		TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr6:105609640C>T	ENST00000254765.3	-	2	423	c.145G>A	c.(145-147)Ggg>Agg	p.G49R	POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	49					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TAAAGGAGCCCGAAGAATCCA	0.473													C|||	1	0.000199681	0	0	5008	,	,		17819	0		0	False		,,,				2504	0.001				p.G49R													.	.			0			c.G145A												80	91	87					6																	105609640		2203	4300	6503	SO:0001583	missense	64208	exon2			GGAGCCCGAAGAA	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.145G>A	6.37:g.105609640C>T	ENSP00000254765:p.Gly49Arg		147	0	0		157	0.13	21	NM_022361	0		0	B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109286	0.94292	.	.	ENSG00000132429	ENST00000254765	T	0.42900	0.96	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67409	-0.5678	10	0.72032	D	0.01	-1.7788	19.867	0.96808	0.0:1.0:0.0:0.0	.	49	Q9HBV1	POPD3_HUMAN	R	49	ENSP00000254765:G49R	ENSP00000254765:G49R	G	-	1	0	POPDC3	105716333	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	7.818000	0.86416	2.704000	0.92352	0.655000	0.94253	GGG			0.473	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041651.1		NM_022361		T	105609640	C	T	105609640	3	4	8	1	0	0	0	0	1	0	0	0	12273	652	23	1	742	1	POPDC3	6	105609640	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	62456298	105609640	65505427	24	507											
SEMA3E	9723	broad.mit.edu	37	chr7	83277770	83277770	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaggcgtaaccgggggTgggtagtatcagctgtatga	9	9	17	6	2	1	2	1	2	0	0	1	2	1	2	1	4	2	5	1	4	4	4	rs544498058	byFrequency	TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr7:83277770T>G	ENST00000307792.3	-	1	556	c.89A>C	c.(88-90)cAc>cCc	p.H30P		NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	30					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TAACCGGGGGTGGGTAGTATC	0.433													T|||	23	0.00459265	8e-04	0.0086	5008	,	,		14469	0.0069		0.007	False		,,,				2504	0.002				p.H30P													.	SEMA3E	125		0			c.A89C												107	91	97					7																	83277770		2203	4300	6503	SO:0001583	missense	9723	exon1			CGGGGGTGGGTAG	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.89A>C	7.37:g.83277770T>G	ENSP00000303212:p.His30Pro		145	0.1379310345	20		296	0.16	47	NM_012431	0		0	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	5.742	0.321430	0.10845	.	.	ENSG00000170381	ENST00000307792;ENST00000541514	T	0.20881	2.04	4.27	4.27	0.50696	Semaphorin/CD100 antigen (1);	0.523883	0.19399	N	0.115209	T	0.14442	0.0349	N	0.19112	0.55	0.58432	D	0.999997	B	0.22604	0.072	B	0.28232	0.087	T	0.09596	-1.0667	10	0.23891	T	0.37	.	11.2518	0.49031	0.0:0.0:0.0:1.0	.	30	O15041	SEM3E_HUMAN	P	30	ENSP00000303212:H30P	ENSP00000303212:H30P	H	-	2	0	SEMA3E	83115706	0.649000	0.27322	0.266000	0.24541	0.932000	0.56968	1.588000	0.36633	1.777000	0.52277	0.533000	0.62120	CAC			0.433	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336606.1		NM_012431		G	83277770	T	G	83277770	3	3	8	1	0	0	0	0	1	0	0	0	14051	1696	59	4	2306	4	SEMA3E	7	83277770	Missense_Mutation	SNP	T	TCGA-2G-AAFH-01A-12D-A42Y-10		83277770	75860893	25	508											
EPHB4	2050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	100419938	100419938	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcgaaccccggagcacAgctgcagcccgtgaccggct	7	5	12	17	4	0	1	0	1	0	0	1	3	0	2	5	2	6	4	5	2	1	0			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr7:100419938A>C	ENST00000358173.3	-	4	1231	c.763T>G	c.(763-765)Tgt>Ggt	p.C255G	EPHB4_ENST00000477446.1_5'UTR|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.C255G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	255	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCGGAGCACAGCTGCAGCCC	0.682																																					p.C255G	GBM(200;2113 3072 25865 52728)												.	.			0			c.T763G												12	11	11					7																	100419938		2187	4268	6455	SO:0001583	missense	2050	exon4			GAGCACAGCTGCA	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.763T>G	7.37:g.100419938A>C	ENSP00000350896:p.Cys255Gly		47	0	0		126	0.12	15	NM_004444	656	0.28	181	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.083169	0.76642	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.99824	-6.96;-6.96	5.62	5.62	0.85841	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.64402	D	0.000014	D	0.99829	0.9923	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.997;0.991;0.998	D	0.96716	0.9529	10	0.87932	D	0	.	13.7571	0.62943	1.0:0.0:0.0:0.0	.	255;255;255;255;255	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	G	255	ENSP00000353833:C255G;ENSP00000350896:C255G	ENSP00000350896:C255G	C	-	1	0	EPHB4	100257874	1.000000	0.71417	0.994000	0.49952	0.704000	0.40688	6.203000	0.72137	2.138000	0.66242	0.459000	0.35465	TGT			0.682	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347222.1		NM_004444		C	100419938	A	C	100419938	3	2	8	1	0	0	0	0	1	0	0	0	5184	188	7	4	2256	4	EPHB4	7	100419938	Missense_Mutation	SNP	A	TCGA-2G-AAFH-01A-12D-A42Y-10	17142168	100419938	58718725	26	509											
MFHAS1	9258	broad.mit.edu	37	chr8	8749216	8749216	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccttgctcacagggggAggtgacggtgggtagcactt	7	9	16	9	1	1	1	1	1	0	0	1	2	1	2	1	5	3	3	1	5	1	3			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr8:8749216A>G	ENST00000276282.6	-	1	1939	c.1353T>C	c.(1351-1353)ccT>ccC	p.P451P		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	451	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCACAGGGGGAGGTGACGGTG	0.612																																					p.P451P	Melanoma(103;1201 2045 17515 28966)												.	MFHAS1	58		0			c.T1353C												67	58	61					8																	8749216		2203	4300	6503	SO:0001819	synonymous_variant	9258	exon1			AGGGGGAGGTGAC	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1353T>C	8.37:g.8749216A>G			63	0	0		91	0.03	3	NM_004225	19	0	0	Q96CI0	Silent	SNP	ENST00000276282.6	37	CCDS34844.1																																																																																					0.612	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374724.2		NM_004225		G	8749216	A	G	8749216	2	3	8	1	0	0	0	0	0	0	0	1	9537	291	11	4		4	MFHAS1	8	8749216	Silent	SNP	A	TCGA-2G-AAFH-01A-12D-A42Y-10		8749216	137614806	27	510											
PCMTD1	115294	mdanderson.org	37	chr8	52733270	52733270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtagattcctgacagCacagggagctaaaaacaaac	15	7	9	10	0	0	2	0	1	0	1	2	3	2	3	2	1	4	3	2	1	5	3			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr8:52733270C>T	ENST00000360540.5	-	7	1121	c.715G>A	c.(715-717)Gct>Act	p.A239T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A239T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A163T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	239						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCCTGACAGCACAGGGAGCT	0.343																																					p.A239T													.	.			0			c.G715A												24	23	23					8																	52733270		2195	4278	6473	SO:0001583	missense	115294	exon6			TGACAGCACAGGG		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.715G>A	8.37:g.52733270C>T	ENSP00000353739:p.Ala239Thr		59	0	0		78	0.06	5	NM_052937	41	0	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634291	0.29068	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.37752	1.18;1.18;1.18	5.77	5.77	0.91146	.	0.108661	0.64402	D	0.000005	T	0.21718	0.0523	N	0.17474	0.49	0.39279	D	0.964533	B;B;B	0.28419	0.001;0.211;0.0	B;B;B	0.22601	0.001;0.04;0.001	T	0.12734	-1.0536	10	0.16420	T	0.52	-25.2146	13.44	0.61108	0.274:0.726:0.0:0.0	.	109;163;239	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	T	239;163;239	ENSP00000353739:A239T;ENSP00000444026:A163T;ENSP00000428099:A239T	ENSP00000353739:A239T	A	-	1	0	PCMTD1	52895823	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.730000	0.38125	2.722000	0.93159	0.655000	0.94253	GCT			0.343	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377909.2		NM_052937		T	52733270	C	T	52733270	3	4	8	1	0	0	0	0	1	0	0	0	11603	710	25	2	362	2	PCMTD1	8	52733270	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	43984054	52733270	93630752	28	511											
COL22A1	169044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	139629170	139629170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttacccggggaccgggtGcaccagaatcgcctgtgtgt	7	8	13	13	3	0	1	0	0	0	1	1	2	0	2	4	3	2	1	4	3	2	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr8:139629170G>A	ENST00000303045.6	-	54	4303	c.3857C>T	c.(3856-3858)gCa>gTa	p.A1286V	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.A1266V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1286	Collagen-like 12.|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)			GGGACCGGGTGCACCAGAATC	0.577										HNSCC(7;0.00092)																											p.A1286V													COL22A1,right_upper_lobe,carcinoma,-1,1	COL22A1	-1	1	0			c.C3857T												74	74	74					8																	139629170		2203	4300	6503	SO:0001583	missense	169044	exon54			CCGGGTGCACCAG	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.3857C>T	8.37:g.139629170G>A	ENSP00000303153:p.Ala1286Val		88	0	0		91	0.19	17	NM_152888	48	0.27	13	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	0.421	-0.908530	0.02434	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94376	-3.24;-3.41	4.35	1.59	0.23543	.	0.825040	0.10255	N	0.696678	D	0.83519	0.5272	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.003;0.005	T	0.70684	-0.4804	10	0.30854	T	0.27	.	3.9494	0.09363	0.1965:0.0:0.6166:0.1869	.	1266;1286	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	1286;1266;979	ENSP00000303153:A1286V;ENSP00000387655:A1266V	ENSP00000303153:A1286V	A	-	2	0	COL22A1	139698352	0.061000	0.20836	0.000000	0.03702	0.131000	0.20780	1.014000	0.29950	0.359000	0.24239	0.555000	0.69702	GCA			0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000315905.2		XM_291257		A	139629170	G	A	139629170	3	1	8	1	0	0	0	0	1	0	0	0	3683	1319	46	2	1071	2	COL22A1	8	139629170	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	86895900	139629170	6734852	29	512											
KIAA1539	80256	hgsc.bcm.edu	37	chr9	35106621	35106621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcctggccccttccGgaggcttcgaagggggctcc	5	6	15	15	2	0	0	0	0	0	0	3	2	2	1	5	6	1	3	5	6	1	2	rs373199885	byFrequency	TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr9:35106621G>A	ENST00000378561.1	-	4	4028	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	FAM214B_ENST00000378557.1_Missense_Mutation_p.R325W|FAM214B_ENST00000605244.1_Missense_Mutation_p.R325W|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000322813.5_Missense_Mutation_p.R325W|FAM214B_ENST00000378554.2_Missense_Mutation_p.R325W|FAM214B_ENST00000488109.2_Missense_Mutation_p.R325W|FAM214B_ENST00000378566.1_Missense_Mutation_p.R20W|FAM214B_ENST00000603301.1_Missense_Mutation_p.R325W			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	325						nucleus (GO:0005634)											GGCCCCTTCCGGAGGCTTCGA	0.627													G|||	5	0.000998403	0.0038	0	5008	,	,		16749	0		0	False		,,,				2504	0				p.R325W													KIAA1539,NS,carcinoma,+1,1	KIAA1539	1	1	0			c.C973T							G	TRP/ARG	1,4335		0,1,2167	8	10	10		973	5.4	1	9		10	0,8490		0,0,4245	no	missense	KIAA1539	NM_025182.2	101	0,1,6412	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	325/539	35106621	1,12825	2168	4245	6413	SO:0001583	missense	80256	exon5			CCTTCCGGAGGCT	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.973C>T	9.37:g.35106621G>A	ENSP00000367823:p.Arg325Trp		42	0	0		66	0.05	3	NM_025182	102	0	0	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678139	0.68042	2.31E-4	0.0	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	5.37	5.37	0.77165	.	0.126735	0.53938	D	0.000044	T	0.48624	0.1510	L	0.42245	1.32	0.46798	D	0.999203	D	0.60575	0.988	B	0.42386	0.386	T	0.55289	-0.8164	9	0.72032	D	0.01	-21.604	16.6599	0.85238	0.0:0.0:1.0:0.0	.	325	Q7L5A3	K1539_HUMAN	W	20;325;325;325;325	.	ENSP00000319897:R325W	R	-	1	2	KIAA1539	35096621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.221000	0.51215	2.808000	0.96608	0.650000	0.86243	CGG			0.627	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052261.1		NM_025182		A	35106621	G	A	35106621	3	1	8	1	0	0	0	0	1	0	0	0	8257	1115	39	1	663	1	KIAA1539	9	35106621	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		35106621	106106810	30	513											
ODF2	4957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	131262420	131262420	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgagagcaccaaccgcagCatgcagaactacgtccagtt	12	6	9	14	3	0	2	0	0	0	2	2	3	2	2	4	0	6	5	4	0	3	2			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr9:131262420C>T	ENST00000434106.3	+	21	2739	c.2376C>T	c.(2374-2376)agC>agT	p.S792S	ODF2_ENST00000393527.3_Silent_p.S768S|ODF2_ENST00000444119.2_Silent_p.S768S|ODF2_ENST00000604420.1_Silent_p.S792S|ODF2_ENST00000351030.3_Silent_p.S787S|ODF2_ENST00000372807.5_Silent_p.S787S	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	792					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCAACCGCAGCATGCAGAACT	0.577																																					p.S856S													.	.			0			c.C2568T												218	173	188					9																	131262420		2203	4300	6503	SO:0001819	synonymous_variant	4957	exon21			CCGCAGCATGCAG	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2376C>T	9.37:g.131262420C>T			84	0	0		119	0.31	37	NM_153435	130	0.55	72	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	CCDS56588.1																																																																																					0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054449.3				T	131262420	C	T	131262420	2	4	8	1	0	0	0	0	0	0	0	1	10844	709	25	2		2	ODF2	9	131262420	Silent	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	96155799	131262420	9951011	31	514											
IER5L	389792	mdanderson.org	37	chr9	131939453	131939453	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccggcggcggacgccagGcccggtcccggagcgccctg	4	2	17	18	7	0	0	0	0	0	0	1	2	1	2	5	6	2	0	5	6	0	0			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr9:131939453G>T	ENST00000372491.2	-	1	1087	c.879C>A	c.(877-879)ggC>ggA	p.G293G	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	293													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CGGACGCCAGGCCCGGTCCCG	0.716																																					p.G293G													.	.			0			c.C879A												11	14	13					9																	131939453		1883	4035	5918	SO:0001819	synonymous_variant	389792	exon1			CGCCAGGCCCGGT	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.879C>A	9.37:g.131939453G>T			20	0	0		43	0.07	3	NM_203434	18	0	0	Q6P3E2	Silent	SNP	ENST00000372491.2	37	CCDS43888.1																																																																																					0.716	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054556.2				T	131939453	G	T	131939453	2	4	8	1	0	0	0	0	0	0	0	1	7524	1190	42	2		2	IER5L	9	131939453	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	677033	131939453	9273978	32	515											
C10orf18	54906	mdanderson.org	37	chr10	5788743	5788743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtagttgcaggacagaaggGcactaagtacctttgtgcct	11	10	12	8	0	0	1	0	0	0	1	0	2	0	2	2	2	3	5	2	2	4	5			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr10:5788743G>A	ENST00000328090.5	+	15	3984	c.3359G>A	c.(3358-3360)gGc>gAc	p.G1120D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1120																	GGACAGAAGGGCACTAAGTAC	0.502																																					p.G1120D													.	.			0			c.G3359A												122	118	119					10																	5788743		1993	4178	6171	SO:0001583	missense	54906	exon15			AGAAGGGCACTAA	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.3359G>A	10.37:g.5788743G>A	ENSP00000328426:p.Gly1120Asp		59	0	0		87	0.05	4	NM_017782	27	0	0	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	1.376	-0.584678	0.03827	.	.	ENSG00000108021	ENST00000328090	T	0.04275	3.66	5.68	0.0766	0.14404	.	0.793883	0.11509	N	0.556885	T	0.03390	0.0098	N	0.25647	0.755	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.43750	-0.9372	10	0.36615	T	0.2	.	4.2749	0.10804	0.4597:0.1716:0.3687:0.0	.	1120	Q5VWN6	F208B_HUMAN	D	1120	ENSP00000328426:G1120D	ENSP00000328426:G1120D	G	+	2	0	C10orf18	5828749	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.083000	0.11286	-0.035000	0.13691	0.591000	0.81541	GGC			0.502	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046571.2		NM_017782		A	5788743	G	A	5788743	3	1	8	1	0	0	0	0	1	0	0	0	1598	1203	42	2	3405	2	C10orf18	10	5788743	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		5788743	129746004	33	516											
TAF5	6877	mdanderson.org	37	chr10	105147455	105147455	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgaaattttggcatcaGgtaaatgactattaatggct	13	14	10	4	0	1	2	1	2	0	0	1	2	1	2	0	4	0	3	0	4	5	5			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr10:105147455G>T	ENST00000369839.3	+	10	2208	c.2185G>T	c.(2185-2187)Ggt>Tgt	p.G729C	TAF5_ENST00000351396.4_Splice_Site_p.G674C	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	729					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTTGGCATCAGGTAAATGACT	0.368																																					p.G729C													.	.			0			c.G2185T												131	133	132					10																	105147455		2203	4300	6503	SO:0001630	splice_region_variant	6877	exon10			GCATCAGGTAAAT	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.2185+1G>T	10.37:g.105147455G>T			40	0	0		24	0.13	3	NM_006951	27	0	0	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721087	0.68959	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.70749	-0.51;-0.51	5.48	5.48	0.80851	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	0.81730	0.4884	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.975;0.99	T	0.83013	-0.0171	10	0.87932	D	0	-12.9872	19.359	0.94428	0.0:0.0:1.0:0.0	.	674;729	Q15542-2;Q15542	.;TAF5_HUMAN	C	729;674	ENSP00000358854:G729C;ENSP00000311024:G674C	ENSP00000311024:G674C	G	+	1	0	TAF5	105137445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.459000	0.97638	2.552000	0.86080	0.557000	0.71058	GGT			0.368	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050144.1			Missense_Mutation	T	105147455	G	T	105147455	5	4	8	1	0	0	0	0	0	0	1	0	15551	1014	35	3	2223	3	TAF5	10	105147455	Splice_Site	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	99358712	105147455	30387292	34	517											
RTN3	10313	broad.mit.edu	37	chr11	63488321	63488321	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactttcacatttgctccaGaatcttggccacagagatca	13	11	6	11	0	3	2	2	0	1	2	4	3	4	2	2	1	2	1	2	1	2	3			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr11:63488321G>T	ENST00000377819.5	+	3	2501	c.2347G>T	c.(2347-2349)Gaa>Taa	p.E783*	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Nonsense_Mutation_p.E671*|RTN3_ENST00000339997.4_Nonsense_Mutation_p.E764*|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	783					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						ATTTGCTCCAGAATCTTGGCC	0.428																																					p.E783X													.	RTN3	104		0			c.G2347T												71	64	66					11																	63488321		2201	4298	6499	SO:0001587	stop_gained	10313	exon3			GCTCCAGAATCTT	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.2347G>T	11.37:g.63488321G>T	ENSP00000367050:p.Glu783*		72	0	0		75	0.07	5	NM_001265589	3	0	0	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Nonsense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	37	6.143719	0.97320	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	.	.	.	5.67	4.72	0.59763	.	5.827120	0.00166	N	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-5.2563	12.4367	0.55602	0.0:0.2345:0.7655:0.0	.	.	.	.	X	783;764;671	.	ENSP00000344106:E764X	E	+	1	0	RTN3	63244897	1.000000	0.71417	0.486000	0.27416	0.172000	0.22775	1.579000	0.36536	1.391000	0.46566	0.655000	0.94253	GAA			0.428	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000397846.1		NM_006054		T	63488321	G	T	63488321	4	4	8	1	0	0	0	0	0	1	0	0	13750	943	33	3	2357	3	RTN3	11	63488321	Nonsense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		63488321	71518195	35	518											
BUD13	84811	mdanderson.org	37	chr11	116633790	116633790	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggaggagatgtgtctGagtcatgacgagcccctctg	7	10	14	10	1	3	3	1	2	2	1	4	6	4	4	3	2	1	0	3	2	0	0			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr11:116633790G>T	ENST00000260210.4	-	4	538	c.515C>A	c.(514-516)tCa>tAa	p.S172*	BUD13_ENST00000375445.3_Nonsense_Mutation_p.S172*	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	172	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	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;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		AGATGTGTCTGAGTCATGACG	0.597																																					p.S172X													.	.			0			c.C515A												95	102	100					11																	116633790		2201	4296	6497	SO:0001587	stop_gained	84811	exon4			GTGTCTGAGTCAT	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.515C>A	11.37:g.116633790G>T	ENSP00000260210:p.Ser172*		56	0.0178571429	1		49	0.06	3	NM_001159736	16	0	0	A8K0S0|Q96LS7	Nonsense_Mutation	SNP	ENST00000260210.4	37	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448648	0.63178	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	.	.	.	5.08	4.17	0.49024	.	0.263772	0.45126	D	0.000395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.0431	12.7157	0.57113	0.0786:0.0:0.9214:0.0	.	.	.	.	X	172	.	ENSP00000260210:S172X	S	-	2	0	BUD13	116139000	0.903000	0.30736	0.176000	0.23000	0.015000	0.08874	3.682000	0.54656	1.368000	0.46115	0.655000	0.94253	TCA			0.597	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000104864.1		NM_032725		T	116633790	G	T	116633790	4	4	8	1	0	0	0	0	0	1	0	0	1575	1294	45	3	1372	3	BUD13	11	116633790	Nonsense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	53145469	116633790	18372726	36	519											
KRT73	319101	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	53002138	53002138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcatgctgtagccccCgctgacagagctgggccagt	8	6	14	13	1	0	2	0	1	0	1	0	2	0	2	3	2	4	6	3	2	1	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr12:53002138C>T	ENST00000305748.3	-	9	1499	c.1465G>A	c.(1465-1467)Ggg>Agg	p.G489R	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	489	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTAGCCCCCGCTGACAGAG	0.632																																					p.G489R													.	.			0			c.G1465A												50	51	50					12																	53002138		2203	4300	6503	SO:0001583	missense	319101	exon9			AGCCCCCGCTGAC	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1465G>A	12.37:g.53002138C>T	ENSP00000307014:p.Gly489Arg		52	0	0		112	0.13	14	NM_175068	0		0	Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604253	0.66445	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.85773	-1.78;-2.03	4.86	3.02	0.34903	.	0.000000	0.48286	D	0.000185	D	0.87450	0.6180	M	0.73962	2.25	0.31845	N	0.623027	D	0.71674	0.998	P	0.54312	0.748	D	0.86910	0.2060	10	0.56958	D	0.05	.	8.0601	0.30627	0.0:0.8071:0.0:0.1929	.	489	Q86Y46	K2C73_HUMAN	R	489;234	ENSP00000307014:G489R;ENSP00000449081:G234R	ENSP00000307014:G489R	G	-	1	0	KRT73	51288405	0.068000	0.21057	0.523000	0.27875	0.911000	0.54048	0.813000	0.27225	0.563000	0.29222	0.655000	0.94253	GGG			0.632	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405700.1		NM_175068		T	53002138	C	T	53002138	3	4	8	1	0	0	0	0	1	0	0	0	8501	652	23	1	161	1	KRT73	12	53002138	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10		53002138	80849757	37	520											
SELPLG	6404	broad.mit.edu	37	chr12	109017521	109017521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtggtctgtgcctccaggCctgtgggttgagtggtctgt	3	13	16	9	0	2	1	0	1	2	0	3	1	3	1	3	4	1	1	3	4	0	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr12:109017521C>G	ENST00000550948.1	-	2	787	c.563G>C	c.(562-564)gGc>gCc	p.G188A	SELPLG_ENST00000388962.3_Missense_Mutation_p.G178A|SELPLG_ENST00000228463.6_Missense_Mutation_p.G204A			Q14242	SELPL_HUMAN	selectin P ligand	188	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGCCTCCAGGCCTGTGGGTTG	0.637																																					p.G204A													.	SELPLG	138		0			c.G611C												184	140	155					12																	109017521		2203	4300	6503	SO:0001583	missense	0	exon2			TCCAGGCCTGTGG		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.563G>C	12.37:g.109017521C>G	ENSP00000447752:p.Gly188Ala		113	0.017699115	2		185	0.05	9	NM_001206609	75	0	0	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	G	0.199	-1.046801	0.01997	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.28069	1.63;1.63;1.63	3.31	1.47	0.22746	.	0.737981	0.11117	N	0.597806	T	0.06325	0.0163	N	0.00368	-1.59	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	0.37731	-0.9693	10	0.02654	T	1	-2.2343	6.622	0.22808	0.1745:0.1505:0.6749:0.0	.	204;188;148	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	A	178;188;204	ENSP00000373614:G178A;ENSP00000447752:G188A;ENSP00000228463:G204A	ENSP00000228463:G204A	G	-	2	0	SELPLG	107541650	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.167000	0.16602	0.410000	0.25675	-0.328000	0.08392	GGC			0.637	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403904.1				G	109017521	C	G	109017521	3	3	8	1	0	0	0	0	1	0	0	0	14043	739	26	5	679	5	SELPLG	12	109017521	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	56015383	109017521	24834374	38	521											
CCDC64	92558	mdanderson.org	37	chr12	120427769	120427769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgccgcggccggggacGcagtccggagtcccgccgcc	3	3	16	19	8	0	0	0	0	0	0	2	2	2	2	7	4	1	1	7	4	0	0			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr12:120427769G>A	ENST00000397558.2	+	1	97	c.97G>A	c.(97-99)Gca>Aca	p.A33T		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	33					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCGGGGACGCAGTCCGGAG	0.751																																					p.A33T													.	.			0			c.G97A												1	2	2					12																	120427769		1004	2584	3588	SO:0001583	missense	92558	exon1			GGGGACGCAGTCC	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.97G>A	12.37:g.120427769G>A	ENSP00000380690:p.Ala33Thr		14	0	0		23	0.09	2	NM_207311	22	0	0	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520266	0.44866	.	.	ENSG00000135127	ENST00000357093;ENST00000397558	T	0.30714	1.52	3.24	1.13	0.20643	.	1.219230	0.06544	U	0.743721	T	0.13329	0.0323	N	0.08118	0	0.80722	D	1	B	0.25048	0.117	B	0.21917	0.037	T	0.43556	-0.9384	10	0.16420	T	0.52	-2.6962	3.2656	0.06864	0.1506:0.0:0.5909:0.2584	.	33	Q6ZP65	BICR1_HUMAN	T	33	ENSP00000380690:A33T	ENSP00000349605:A33T	A	+	1	0	CCDC64	118912152	0.008000	0.16893	0.975000	0.42487	0.796000	0.44982	0.104000	0.15313	1.364000	0.46038	0.450000	0.29827	GCA			0.751	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000403390.2		NM_207311		A	120427769	G	A	120427769	3	1	8	1	0	0	0	0	1	0	0	0	2837	1087	38	1	99	1	CCDC64	12	120427769	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	11410248	120427769	13424126	39	522											
TMEM132B	114795	broad.mit.edu	37	chr12	125834096	125834096	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccaatgcagaggagtccTttttccttaaagaagccaac	12	11	7	11	0	1	2	0	0	1	2	4	3	3	3	4	1	3	1	4	1	5	3			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr12:125834096T>C	ENST00000299308.3	+	2	159	c.151T>C	c.(151-153)Ttt>Ctt	p.F51L	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	51						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)		AGAGGAGTCCTTTTTCCTTAA	0.527																																					p.F51L													.	TMEM132B	207		0			c.T151C												132	132	132					12																	125834096		1939	4145	6084	SO:0001583	missense	114795	exon2			GAGTCCTTTTTCC	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.151T>C	12.37:g.125834096T>C	ENSP00000299308:p.Phe51Leu		163	0	0		337	0.01	4	NM_052907	1	0	0	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480918	0.84747	.	.	ENSG00000139364	ENST00000299308	T	0.07216	3.21	5.41	5.41	0.78517	.	.	.	.	.	T	0.21509	0.0518	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00553	-1.1674	9	0.54805	T	0.06	.	15.4399	0.75176	0.0:0.0:0.0:1.0	.	51	Q14DG7	T132B_HUMAN	L	51	ENSP00000299308:F51L	ENSP00000299308:F51L	F	+	1	0	TMEM132B	124400049	1.000000	0.71417	0.943000	0.38184	0.534000	0.34807	7.747000	0.85070	2.034000	0.60081	0.482000	0.46254	TTT			0.527	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000400043.1		NM_052907		C	125834096	T	C	125834096	3	2	8	1	0	0	0	0	1	0	0	0	16069	1609	56	4	157	4	TMEM132B	12	125834096	Missense_Mutation	SNP	T	TCGA-2G-AAFH-01A-12D-A42Y-10	5406327	125834096	8017799	40	523											
NKX2-1	7080	broad.mit.edu	37	chr14	36988467	36988467	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcggagccccgaggccGccgccctccatgcccacttt	5	5	11	20	4	0	0	0	0	0	0	1	2	1	1	8	2	3	0	8	2	0	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr14:36988467G>T	ENST00000518149.1	-	2	701	c.96C>A	c.(94-96)ggC>ggA	p.G32G	NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000522719.2_Silent_p.G32G|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Silent_p.G32G|NKX2-1_ENST00000354822.5_Silent_p.G62G			P43699	NKX21_HUMAN	NK2 homeobox 1	32					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)		CCCCGAGGCCGCCGCCCTCCA	0.657			A		NSCLC																																p.G62G				Dom	yes		14	14q13	7080	NK2 homeobox 1		E	.	NKX2-1	21		0			c.C186A												9	10	10					14																	36988467		2172	4264	6436	SO:0001819	synonymous_variant	7080	exon2			GAGGCCGCCGCCC		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.96C>A	14.37:g.36988467G>T			79	0.0253164557	2		138	0.03	4	NM_001079668	0		0	D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Silent	SNP	ENST00000518149.1	37	CCDS9659.1																																																																																					0.657	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376225.2		NM_003317		T	36988467	G	T	36988467	2	4	8	1	0	0	0	0	0	0	0	1	10466	1074	38	1		1	NKX2-1	14	36988467	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		36988467	70361073	41	524											
OTX2	5015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	57271040	57271040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgtcgtcctctcccggcGctgtttccggggggtggctg	2	10	16	13	5	1	0	0	0	1	0	5	1	3	0	3	5	1	3	3	5	1	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr14:57271040G>A	ENST00000555006.1	-	3	523	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	OTX2_ENST00000554559.1_Intron|OTX2_ENST00000339475.5_Missense_Mutation_p.R47C|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000408990.3_Missense_Mutation_p.R39C			P32243	OTX2_HUMAN	orthodenticle homeobox 2	39					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CTCTCCCGGCGCTGTTTCCGG	0.632																																					p.R47C													.	.			0			c.C139T												41	40	40					14																	57271040		2203	4300	6503	SO:0001583	missense	5015	exon2			CCCGGCGCTGTTT	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.115C>T	14.37:g.57271040G>A	ENSP00000452336:p.Arg39Cys		109	0	0		191	0.16	31	NM_001270525	33	0.27	9	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239855	0.79912	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.58	4.6	0.57074	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.39475	N	0.001353	D	0.99102	0.9691	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98383	1.0559	10	0.87932	D	0	.	12.4707	0.55785	0.0:0.0:0.7598:0.2402	.	47;39	F1T0D1;P32243	.;OTX2_HUMAN	C	47;39;39;47;39	ENSP00000343819:R47C;ENSP00000386185:R39C;ENSP00000452336:R39C;ENSP00000451357:R47C;ENSP00000451272:R39C	ENSP00000343819:R47C	R	-	1	0	OTX2	56340793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.025000	0.41059	2.617000	0.88574	0.655000	0.94253	CGC			0.632	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411522.1		NM_021728.		A	57271040	G	A	57271040	3	1	8	1	0	0	0	0	1	0	0	0	11338	1087	38	1	762	1	OTX2	14	57271040	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	20282573	57271040	50078500	42	525											
TDRD9	122402	mdanderson.org	37	chr14	104481101	104481101	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaagactagaatctcaCagttcaacatgcatgttgat	15	12	7	7	0	2	4	2	2	1	2	3	4	2	4	0	0	2	3	0	0	5	4			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr14:104481101C>T	ENST00000409874.4	+	21	2194	c.2146C>T	c.(2146-2148)Cag>Tag	p.Q716*	RN7SL634P_ENST00000485467.2_RNA|TDRD9_ENST00000339063.5_Nonsense_Mutation_p.Q716*	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	716					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TAGAATCTCACAGTTCAACAT	0.383																																					p.Q716X													.	.			0			c.C2146T												148	146	146					14																	104481101		2203	4300	6503	SO:0001587	stop_gained	122402	exon21			ATCTCACAGTTCA	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2146C>T	14.37:g.104481101C>T	ENSP00000387303:p.Gln716*		60	0	0		66	0.05	3	NM_153046	4	0	0	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Nonsense_Mutation	SNP	ENST00000409874.4	37	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.550986|5.550986	0.96501|0.96501	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000409874;ENST00000339063|ENST00000557332	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.392290|.	0.24202|.	N|.	0.040602|.	.|T	.|0.60830	.|0.2299	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68198	.|-0.5472	.|3	0.34782|.	T|.	0.22|.	.|.	11.8569|11.8569	0.52441|0.52441	0.1347:0.7349:0.1304:0.0|0.1347:0.7349:0.1304:0.0	.|.	.|.	.|.	.|.	X|I	716|442	.|.	ENSP00000343545:Q716X|.	Q|T	+|+	1|2	0|0	TDRD9|TDRD9	103550854|103550854	0.867000|0.867000	0.29959|0.29959	0.951000|0.951000	0.38953|0.38953	0.916000|0.916000	0.54674|0.54674	1.633000|1.633000	0.37113|0.37113	2.527000|2.527000	0.85204|0.85204	0.563000|0.563000	0.77884|0.77884	CAG|ACA			0.383	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328325.3		NM_153046		T	104481101	C	T	104481101	4	4	8	1	0	0	0	0	0	1	0	0	15759	479	17	3	2228	3	TDRD9	14	104481101	Nonsense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	47210061	104481101	2868439	43	526											
UBN1	29855	ucsc.edu	37	chr16	4925276	4925276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgtcccaagttcagcaggGaaaaaaatgcctgtttccca	12	8	8	13	1	1	0	1	0	0	0	3	1	3	1	4	1	2	3	4	1	4	2			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr16:4925276G>A	ENST00000396658.4	+	14	3568	c.2865G>A	c.(2863-2865)ggG>ggA	p.G955G	UBN1_ENST00000262376.6_Silent_p.G955G|UBN1_ENST00000590769.1_Silent_p.G955G|UBN1_ENST00000545171.1_Silent_p.G955G	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	955	Ser-rich.				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						GTTCAGCAGGGAAAAAAATGC	0.587																																					p.G955G													.	UBN1	88		0			c.G2865A												48	54	52					16																	4925276		2197	4300	6497	SO:0001819	synonymous_variant	29855	exon15			AGCAGGGAAAAAA	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.2865G>A	16.37:g.4925276G>A			81	0	0		97	0.01	1	NM_001079514	34	0.18	6	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	CCDS10525.1																																																																																					0.587	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251719.1		NM_016936		A	4925276	G	A	4925276	2	1	8	1	0	0	0	0	0	0	0	1	16916	1161	41	3		3	UBN1	16	4925276	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		4925276	85429477	44	527											
C16orf62	57020	broad.mit.edu	37	chr16	19612991	19612991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttttcctcccaggaaagCtcgtgtacgagcgcatcttt	7	13	8	13	3	1	0	0	0	1	0	5	2	4	1	3	1	3	3	3	1	2	4			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr16:19612991C>A	ENST00000251143.5	+	9	742	c.730C>A	c.(730-732)Ctc>Atc	p.L244I	C16orf62_ENST00000542263.1_Missense_Mutation_p.L333I|C16orf62_ENST00000417362.2_Missense_Mutation_p.L244I|C16orf62_ENST00000448695.1_Splice_Site_p.L94I|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000438132.3_Missense_Mutation_p.L333I			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	244						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						CCCAGGAAAGCTCGTGTACGA	0.488											OREG0023661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L333I													.	C16orf62	164		0			c.C997A												157	124	135					16																	19612991		2197	4300	6497	SO:0001583	missense	57020	exon9			GGAAAGCTCGTGT		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.730C>A	16.37:g.19612991C>A	ENSP00000251143:p.Leu244Ile		111	0.009009009	1	734	110	0.06	7	NM_020314	33	0	0	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	C	17.02	3.283011	0.59867	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.3	1.97	0.26223	.	0.000000	0.64402	D	0.000001	T	0.77665	0.4164	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.67145	0.984;0.974;0.967;0.996	P;D;P;D	0.67725	0.752;0.953;0.789;0.946	T	0.79077	-0.1951	10	0.66056	D	0.02	-15.1376	10.2431	0.43324	0.0:0.7537:0.0:0.2463	.	244;333;244;333	B3KT69;F5H7K1;Q7Z3J2;E7EWW0	.;.;CP062_HUMAN;.	I	333;333;244;244;94	ENSP00000400815:L333I;ENSP00000442468:L333I;ENSP00000251143:L244I;ENSP00000395973:L244I;ENSP00000398009:L94I	ENSP00000251143:L244I	L	+	1	0	C16orf62	19520492	1.000000	0.71417	0.902000	0.35471	0.635000	0.38103	1.183000	0.32041	0.613000	0.30089	0.462000	0.41574	CTC			0.488	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_020314		A	19612991	C	A	19612991	3	1	8	1	0	0	0	0	1	0	0	0	1827	797	28	2	764	2	C16orf62	16	19612991	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	14687715	19612991	70741762	45	528											
PKD1L2	114780	mdanderson.org	37	chr16	81213378	81213378	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagtctgcaggcatccAggaggggctcagcctgaaag	9	7	14	11	0	3	2	1	2	2	0	4	3	4	3	2	4	2	3	2	4	1	0	rs4889261	byFrequency	TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr16:81213378A>T	ENST00000527937.1	-	0	190				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAGGCATCCAGGAGGGGCTC	0.597																																					p.L711Q													.	.			0			c.T2132A												43	45	44					16																	81213378		1950	4152	6102			114780	exon13			GCATCCAGGAGGG	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.81213378A>T			95	0	0		87	0.02	2	NM_001076780	0		0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		.	.	.	.	.	.	.	.	.	.	G	10.27	1.302908	0.23736	.	.	ENSG00000166473	ENST00000531391;ENST00000337114;ENST00000527937	T;T;T	0.68765	2.47;-0.35;2.13	5.02	5.02	0.67125	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.212459	0.34986	N	0.003525	T	0.65450	0.2692	.	.	.	0.39544	P	0.03113200000000005	B;B;B	0.25719	0.0;0.087;0.132	B;B;B	0.36845	0.001;0.053;0.234	T	0.72766	-0.4194	8	0.87932	D	0	-16.099	10.9073	0.47088	0.0886:0.0:0.9114:0.0	.	26;711;711	Q7Z442-6;Q7Z442-3;Q7Z442	.;.;PK1L2_HUMAN	Q	26;711;26	ENSP00000436309:L26Q;ENSP00000337397:L711Q;ENSP00000432818:L26Q	ENSP00000337397:L711Q	L	-	2	0	PKD1L2	79770879	0.998000	0.40836	0.737000	0.30932	0.003000	0.03518	3.419000	0.52728	1.137000	0.42214	-0.355000	0.07637	CTG			0.597	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene		OTTHUMT00000387978.1				T	81213378	A	T	81213378	1	4	8	0	1	0	0	0	0	0	0	0	11982	188	7	5		5	PKD1L2	16	81213378	RNA	SNP	A	TCGA-2G-AAFH-01A-12D-A42Y-10	61600387	81213378	9141375	46	529											
CMIP	80790	mdanderson.org	37	chr16	81737575	81737575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctcgtttgctgagctccgGctccttcggaaacctggaga	6	10	13	12	3	0	2	0	1	0	1	4	4	2	3	3	4	3	5	3	4	1	2			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr16:81737575G>A	ENST00000537098.3	+	18	2048	c.1976G>A	c.(1975-1977)gGc>gAc	p.G659D	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.G506D|CMIP_ENST00000539778.2_Missense_Mutation_p.G565D	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	659						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CTGAGCTCCGGCTCCTTCGGA	0.612																																					p.G659D													CMIP,NS,carcinoma,+1,2	CMIP	1	2	0			c.G1976A												41	49	46					16																	81737575		2188	4283	6471	SO:0001583	missense	80790	exon18			GCTCCGGCTCCTT	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1976G>A	16.37:g.81737575G>A	ENSP00000446100:p.Gly659Asp		49	0	0		36	0.08	3	NM_198390	95	0	0	Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170759	0.94807	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.54071	0.59;0.59	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.986	T	0.67067	-0.5764	10	0.66056	D	0.02	.	18.8746	0.92329	0.0:0.0:1.0:0.0	.	506;565;659	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	D	659;565;565;472	ENSP00000446100:G659D;ENSP00000440401:G565D	ENSP00000381120:G565D	G	+	2	0	CMIP	80295076	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.420000	0.97426	2.475000	0.83589	0.549000	0.68633	GGC			0.612	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432399.2		NM_030629		A	81737575	G	A	81737575	3	1	8	1	0	0	0	0	1	0	0	0	3580	1203	42	2	2068	2	CMIP	16	81737575	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	524197	81737575	8617178	47	530											
ZC3H18	124245	broad.mit.edu	37	chr16	88677720	88677721	+	In_Frame_Ins	INS	-	-	GAGCGG																															agaacagacagcgcgagcgcINSgagcgggagcgggagcggga																								rs369086353|rs529387142		TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr16:88677720_88677721insGAGCGG	ENST00000301011.5	+	8	1451_1452	c.1251_1252insGAGCGG	c.(1252-1254)gag>GAGCGGgag	p.418_418E>ERE	ZC3H18_ENST00000452588.2_In_Frame_Ins_p.442_442E>ERE	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	418						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)		agcgcgagcgcgagcgggagcg	0.658																																					p.R417delinsRER	Ovarian(121;375 2276 20373 38669)												ZC3H18,colon,carcinoma,0,2	ZC3H18	90	2	0			c.1251_1252insGAGCGG																																									SO:0001652	inframe_insertion	124245	exon8			CGAGCGCGAGCGG	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.1264_1269dupGAGCGG	16.37:g.88677721_88677726dupGAGCGG	ENSP00000301011:p.ArgGlu422dup		60	0	0		60	0.13	8	NM_144604	40	0	0	Q96DG4|Q96MP7	In_Frame_Ins	INS	ENST00000301011.5	37	CCDS10967.1																																																																																					0.658	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000269168.1		NM_144604		GAGCGG	88677721	-	GAGCGG	88677720	7	5	8	1	0	1	1	0	0	0	0	0	17591	755	27	0	1277	0	ZC3H18	16	88677720	In_Frame_Ins	INS	-	TCGA-2G-AAFH-01A-12D-A42Y-10	6940145	88677720	1677033	48	531											
UBB	7314	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr17	16285479	16285479	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaagaccctgaccggCaagaccatcaccctggaagt	11	7	10	13	2	1	4	1	2	0	2	2	5	1	5	4	2	0	1	4	2	3	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr17:16285479C>G	ENST00000395837.1	+	2	439	c.258C>G	c.(256-258)ggC>ggG	p.G86G	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.G86G|UBB_ENST00000302182.3_Silent_p.G86G|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	86	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		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)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCCTGACCGGCAAGACCATCA	0.552																																					p.G86G	Melanoma(163;1126 3406 34901)												.	.			0			c.C258G												69	70	69					17																	16285479		2203	4297	6500	SO:0001819	synonymous_variant	7314	exon2			GACCGGCAAGACC		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.258C>G	17.37:g.16285479C>G			95	0	0		106	0.12	13	NM_018955	2236	0.15	330	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																					0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000130459.1		NM_018955		G	16285479	C	G	16285479	2	3	8	1	0	0	0	0	0	0	0	1	16865	697	25	5		5	UBB	17	16285479	Silent	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10		16285479	64909731	49	532											
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29496939	29496939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaactgtttgttcagaagaCaatgttgatgttcatgatat	12	17	8	4	0	2	4	2	2	0	2	2	4	2	4	0	0	1	4	0	0	4	6			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr17:29496939C>T	ENST00000358273.4	+	5	893	c.510C>T	c.(508-510)gaC>gaT	p.D170D	NF1_ENST00000431387.4_Silent_p.D170D|NF1_ENST00000356175.3_Silent_p.D170D	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	170					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)|p.E169fs*1(1)	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)		GTTCAGAAGACAATGTTGATG	0.308			"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)																											p.D170D			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.			13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)	c.C510T												94	94	94					17																	29496939		2203	4300	6503	SO:0001819	synonymous_variant	4763	exon5	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	AGAAGACAATGTT		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.510C>T	17.37:g.29496939C>T			93	0	0		96	0.14	13	NM_001128147	4	0.5	2	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																					0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256351.2		NM_000267		T	29496939	C	T	29496939	2	4	8	1	0	0	0	0	0	0	0	1	10373	477	17	3		3	NF1	17	29496939	Silent	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	13211460	29496939	51698271	50	533											
C17orf98	388381	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	36997456	36997456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcagttttccgcaaaaGgggcggaaccacgtgactct	10	9	11	11	3	2	2	1	2	1	0	3	3	3	3	2	3	1	2	2	3	3	2			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr17:36997456G>A	ENST00000398575.4	-	1	252	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	63										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						TTCCGCAAAAGGGGCGGAACC	0.592																																					p.L63F													.	.			0			c.C187T												56	55	55					17																	36997456		1929	4131	6060	SO:0001583	missense	388381	exon1			GCAAAAGGGGCGG	AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.187C>T	17.37:g.36997456G>A	ENSP00000381580:p.Leu63Phe		59	0	0		111	0.16	18	NM_001080465	1	1	1		Missense_Mutation	SNP	ENST00000398575.4	37	CCDS42310.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157711	0.57368	.	.	ENSG00000214556	ENST00000398575	T	0.48836	0.8	5.16	-6.26	0.02033	.	1.083180	0.07555	U	0.916014	T	0.31638	0.0803	L	0.32530	0.975	0.09310	N	1	B	0.25441	0.126	B	0.29942	0.109	T	0.40850	-0.9541	10	0.66056	D	0.02	-3.5214	4.6506	0.12592	0.1098:0.1895:0.1098:0.5909	.	63	A8MV24	CQ098_HUMAN	F	63	ENSP00000381580:L63F	ENSP00000381580:L63F	L	-	1	0	C17orf98	34250982	0.000000	0.05858	0.004000	0.12327	0.865000	0.49528	-1.752000	0.01819	-1.441000	0.01958	-1.498000	0.00962	CTT			0.592	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255469.2		NM_001080465		A	36997456	G	A	36997456	3	1	8	1	0	0	0	0	1	0	0	0	1895	1000	35	3	289	3	C17orf98	17	36997456	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	7500517	36997456	44197754	51	534											
CDC27	996	mdanderson.org	37	chr17	45234325	45234325	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcctcctaataaacttcGaccagtttttggtttatttt	8	19	6	8	1	0	0	0	0	0	0	3	1	2	0	3	2	1	2	3	2	4	9			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr17:45234325G>A	ENST00000066544.3	-	7	889	c.796C>T	c.(796-798)Cga>Tga	p.R266*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.R205*|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R266*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.R266*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATAAACTTCGACCAGTTTTT	0.363																																					p.R266X													.	.			0			c.C796T												60	65	63					17																	45234325		2200	4295	6495	SO:0001587	stop_gained	996	exon7			AACTTCGACCAGT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.796C>T	17.37:g.45234325G>A	ENSP00000066544:p.Arg266*		58	0.0172413793	1		64	0.05	3	NM_001114091	42	0	0	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117088	0.77323	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.	.	.	5.64	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5002	13.5956	0.61987	0.0:0.0:0.8433:0.1567	.	.	.	.	X	266;266;205;266;266	.	ENSP00000066544:R266X	R	-	1	2	CDC27	42589324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.123000	0.71614	1.354000	0.45846	0.460000	0.39030	CGA			0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2				A	45234325	G	A	45234325	4	1	8	1	0	0	0	0	0	1	0	0	3068	1066	37	1	1748	1	CDC27	17	45234325	Nonsense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	8236869	45234325	35960885	52	535											
HOXB9	3219	mdanderson.org	37	chr17	46703562	46703562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaggaaacttggctggagGcgcgtcctcactctcgtgac	9	8	13	11	3	2	2	1	1	1	1	4	4	3	4	1	4	1	1	1	4	2	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr17:46703562G>T	ENST00000311177.5	-	1	277	c.70C>A	c.(70-72)Cct>Act	p.P24T	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Missense_Mutation_p.P24T|HOXB-AS4_ENST00000480386.1_RNA	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	24					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TTGGCTGGAGGCGCGTCCTCA	0.607																																					p.P24T													.	.			0			c.C70A												20	23	22					17																	46703562		2192	4273	6465	SO:0001583	missense	3219	exon1			CTGGAGGCGCGTC		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"Homeoboxes / ANTP class : HOXL subclass"	5120	protein-coding gene	gene with protein product		142964	"homeo box B9"	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.70C>A	17.37:g.46703562G>T	ENSP00000309439:p.Pro24Thr		10	0	0		10	0.2	2	NM_024017	0		0	B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383104	0.25031	.	.	ENSG00000170689	ENST00000311177;ENST00000442657;ENST00000550387	D	0.92699	-3.09	4.66	4.66	0.58398	Hox9, N-terminal activation domain (1);	0.204155	0.42172	D	0.000757	D	0.88555	0.6468	L	0.47016	1.485	0.38439	D	0.946664	P	0.38300	0.626	B	0.34722	0.188	D	0.88196	0.2880	10	0.23302	T	0.38	.	17.8979	0.88895	0.0:0.0:1.0:0.0	.	24	P17482	HXB9_HUMAN	T	24	ENSP00000309439:P24T	ENSP00000309439:P24T	P	-	1	0	HOXB9	44058561	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.357000	0.34090	2.277000	0.76020	0.555000	0.69702	CCT			0.607	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358101.2				T	46703562	G	T	46703562	3	4	8	1	0	0	0	0	1	0	0	0	7323	1203	42	2	690	2	HOXB9	17	46703562	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	1469237	46703562	34491648	53	536											
GGA3	23163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	73237088	73237088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacaaactgttggtcgtgtCcagctccgcaaggtcgatga	9	9	13	10	3	0	1	0	1	0	0	4	3	2	2	2	3	2	3	2	3	2	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr17:73237088C>A	ENST00000245541.6	-	11	1213	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	GGA3_ENST00000582486.1_Missense_Mutation_p.D261Y|GGA3_ENST00000538886.1_Missense_Mutation_p.D211Y|GGA3_ENST00000578348.1_Missense_Mutation_p.D211Y|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000351904.7_Missense_Mutation_p.D300Y|GGA3_ENST00000582717.1_Missense_Mutation_p.D261Y	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	333	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TTGGTCGTGTCCAGCTCCGCA	0.577											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D333Y													.	.			0			c.G997T												139	133	135					17																	73237088		2203	4300	6503	SO:0001583	missense	23163	exon11			TCGTGTCCAGCTC	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.997G>T	17.37:g.73237088C>A	ENSP00000245541:p.Asp333Tyr		112	0	0	1143	176	0.11	20	NM_138619	35	0.29	10	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314908	0.23908	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.56444	1.85;0.46	5.4	5.4	0.78164	.	0.259992	0.35585	N	0.003104	T	0.65575	0.2704	L	0.46157	1.445	0.80722	D	1	D;P;D	0.65815	0.977;0.93;0.995	P;P;P	0.60345	0.75;0.873;0.855	T	0.67110	-0.5753	10	0.72032	D	0.01	-24.1664	19.5504	0.95315	0.0:1.0:0.0:0.0	.	211;300;333	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	Y	333;300;261;211	ENSP00000245541:D333Y;ENSP00000326575:D300Y	ENSP00000245541:D333Y	D	-	1	0	GGA3	70748683	1.000000	0.71417	0.397000	0.26308	0.082000	0.17680	5.287000	0.65645	2.688000	0.91661	0.655000	0.94253	GAC			0.577	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446645.1		NM_138619		A	73237088	C	A	73237088	3	1	8	1	0	0	0	0	1	0	0	0	6368	855	30	3	1290	3	GGA3	17	73237088	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	26533526	73237088	7958122	54	537											
ELP2	55250	mdanderson.org	37	chr18	33726314	33726314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctttccacggagcgttGcacctttggaaacagaatac	11	10	9	11	2	0	1	0	0	0	1	1	3	1	3	2	2	5	3	2	2	3	4	rs143713231		TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr18:33726314G>A	ENST00000358232.6	+	11	1158	c.1095G>A	c.(1093-1095)ttG>ttA	p.L365L	ELP2_ENST00000442325.2_Silent_p.L430L|ELP2_ENST00000351393.6_Silent_p.L339L|ELP2_ENST00000423854.2_Silent_p.L295L|ELP2_ENST00000350494.6_Intron|ELP2_ENST00000542824.1_Intron	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	365					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ACGGAGCGTTGCACCTTTGGA	0.373													G|||	1	0.000199681	8e-04	0	5008	,	,		18733	0		0	False		,,,				2504	0				p.L430L													.	.			0			c.G1290A							G	,,,,,	4,4402	8.1+/-20.4	0,4,2199	159	150	153		1290,,1017,,885,1095	2.9	0.8	18	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous,intron,coding-synonymous,intron,coding-synonymous,coding-synonymous	ELP2	NM_001242875.1,NM_001242876.1,NM_001242877.1,NM_001242878.1,NM_001242879.1,NM_018255.2	,,,,,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,,,,,	430/892,,339/801,,295/757,365/827	33726314	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55250	exon12			AGCGTTGCACCTT	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1095G>A	18.37:g.33726314G>A			149	0	0		99	0.05	5	NM_001242875	69	0	0	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	8.545	0.874117	0.17395	9.08E-4	0.0	ENSG00000134759	ENST00000535093	.	.	.	5.6	2.86	0.33363	.	.	.	.	.	T	0.58264	0.2110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50825	-0.8782	4	.	.	.	-4.3353	9.0044	0.36102	0.242:0.0:0.758:0.0	.	.	.	.	Y	186	.	.	C	+	2	0	ELP2	31980312	0.996000	0.38824	0.824000	0.32777	0.935000	0.57460	0.310000	0.19356	0.323000	0.23307	0.313000	0.20887	TGC	0.001		0.373	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255800.2		NM_018255		A	33726314	G	A	33726314	2	1	8	1	0	0	0	0	0	0	0	1	5087	1310	46	2		2	ELP2	18	33726314	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		33726314	44350934	55	538											
PLIN5	440503	mdanderson.org	37	chr19	4531721	4531721	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacacgcagttctcagccagGcggcaggcggagcccagcag	9	3	14	15	3	1	0	1	0	1	0	2	1	1	1	2	4	3	4	2	4	0	1	rs377467819		TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr19:4531721G>T	ENST00000381848.3	-	3	254	c.174C>A	c.(172-174)cgC>cgA	p.R58R	CTB-50L17.14_ENST00000586020.1_Missense_Mutation_p.A76D	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	58	Essential for lipid droplet targeting. {ECO:0000250}.|Interaction with LIPE. {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						TCTCAGCCAGGCGGCAGGCGG	0.706																																					p.R58R													.	.			0			c.C174A												8	13	11					19																	4531721		2128	4209	6337	SO:0001819	synonymous_variant	440503	exon3			AGCCAGGCGGCAG	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.174C>A	19.37:g.4531721G>T			22	0	0		44	0.07	3	NM_001013706	0		0	A2RRC1|Q6ZS68	Silent	SNP	ENST00000381848.3	37	CCDS42473.1																																																																																					0.706	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458647.1		NM_001013706		T	4531721	G	T	4531721	2	4	8	1	0	0	0	0	0	0	0	1	12110	1190	42	2		2	PLIN5	19	4531721	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		4531721	54597262	56	539											
PNPLA6	10908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	7615464	7615464	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctgcgtagcgtgatcCagcgaggcagtggcaagaag	9	5	18	9	4	0	2	0	1	0	1	1	3	1	2	1	4	3	4	1	4	3	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr19:7615464C>T	ENST00000221249.6	+	19	2322	c.1891C>T	c.(1891-1893)Cag>Tag	p.Q631*	PNPLA6_ENST00000545201.2_Nonsense_Mutation_p.Q605*|PNPLA6_ENST00000414982.3_Nonsense_Mutation_p.Q679*|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Nonsense_Mutation_p.Q670*|PNPLA6_ENST00000450331.3_Nonsense_Mutation_p.Q631*	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	670					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TAGCGTGATCCAGCGAGGCAG	0.667																																					p.Q679X													.	.			0			c.C2035T												58	48	51					19																	7615464		2203	4300	6503	SO:0001587	stop_gained	10908	exon18			GTGATCCAGCGAG	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1891C>T	19.37:g.7615464C>T	ENSP00000221249:p.Gln631*		74	0	0		160	0.13	20	NM_001166111	64	0.09	6	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Nonsense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	42	9.602034	0.99216	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	.	.	.	4.85	4.85	0.62838	.	0.065897	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	10.7002	0.45922	0.1907:0.8093:0.0:0.0	.	.	.	.	X	631;605;679;631	.	ENSP00000221249:Q631X	Q	+	1	0	PNPLA6	7521464	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.563000	0.60823	2.245000	0.73994	0.591000	0.81541	CAG			0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459275.1		NM_006702		T	7615464	C	T	7615464	4	4	8	1	0	0	0	0	0	1	0	0	12186	595	21	3	2101	3	PNPLA6	19	7615464	Nonsense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	3083743	7615464	51513519	57	540											
ZNF699	374879	broad.mit.edu;ucsc.edu	37	chr19	9407511	9407511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcacaggattttacttcaGtatttctcttgagtgaatca	11	17	6	7	0	4	2	3	2	1	0	5	3	4	3	0	1	1	1	0	1	3	7			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr19:9407511G>C	ENST00000591998.1	-	6	797	c.569C>G	c.(568-570)aCt>aGt	p.T190S	ZNF699_ENST00000308650.3_Missense_Mutation_p.T190S|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTTACTTCAGTATTTCTCTT	0.388																																					p.T190S													ZNF699,NS,carcinoma,-1,1	ZNF699	67	1	0			c.C569G												107	96	100					19																	9407511		1938	4149	6087	SO:0001583	missense	374879	exon5			ACTTCAGTATTTC	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.569C>G	19.37:g.9407511G>C	ENSP00000467723:p.Thr190Ser		142	0.014084507	2		183	0.15	27	NM_198535	11	0.09	1	Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	G	8.675	0.903772	0.17760	.	.	ENSG00000196110	ENST00000308650	T	0.17528	2.27	3.07	0.79	0.18613	.	0.772090	0.10636	N	0.651617	T	0.12050	0.0293	L	0.35414	1.06	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.29822	-0.9999	10	0.45353	T	0.12	.	5.7594	0.18190	0.1226:0.2017:0.6757:0.0	.	190	Q32M78	ZN699_HUMAN	S	190	ENSP00000311596:T190S	ENSP00000311596:T190S	T	-	2	0	ZNF699	9268511	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	0.615000	0.24329	0.289000	0.22422	0.555000	0.69702	ACT			0.388	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449010.1		NM_198535		C	9407511	G	C	9407511	3	2	8	1	0	0	0	0	1	0	0	0	18124	1029	36	5	1363	5	ZNF699	19	9407511	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	1792047	9407511	49721472	58	541											
ZNF676	163223	bcgsc.ca	37	chr19	22363736	22363736	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttgagacgctactaaaTcctttgccacattcttcaca	11	12	7	11	1	2	1	1	1	1	1	3	2	3	1	2	1	2	2	2	1	3	6	rs559970266	byFrequency	TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr19:22363736T>G	ENST00000397121.2	-	3	1100	c.783A>C	c.(781-783)ggA>ggC	p.G261G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CGCTACTAAATCCTTTGCCAC	0.388																																					p.G261G													.	ZNF676	146		0			c.A783C												89	95	93					19																	22363736		2160	4274	6434	SO:0001819	synonymous_variant	163223	exon3			ACTAAATCCTTTG	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.783A>C	19.37:g.22363736T>G			55	0	0		71	0.04	3	NM_001001411	81	0	0	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																					0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464392.1		NM_001001411		G	22363736	T	G	22363736	2	3	8	1	0	0	0	0	0	0	0	1	18106	1422	50	4		4	ZNF676	19	22363736	Silent	SNP	T	TCGA-2G-AAFH-01A-12D-A42Y-10	12956225	22363736	36765247	59	542											
ZNF99	7652	hgsc.bcm.edu	37	chr19	22940462	22940463	+	Missense_Mutation	DNP	AC	AC	CT																															cagtatgaattaccttatgtAcagtaagttttgaggaccac																										TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	AC	AC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr19:22940462_22940463AC>CT	ENST00000596209.1	-	4	2338_2339	c.2248_2249GT>AG	c.(2248-2250)GTa>AGa	p.V750R	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.V659R	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	750					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(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TACCTTATGTACAGTAAGTTTT	0.356																																					p.V659R													ZNF99,colon,carcinoma,+2,1	ZNF99	2	1	0			c.G2248A																																									SO:0001583	missense	7652	exon4			TTATGTACAGTAA	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2248_2249delinsCT	19.37:g.22940462_22940463delinsCT	ENSP00000472969:p.Val750Arg		34	0.0294117647	1		54	0.07	4	NM_001080409	7	0	0	M0R335	Missense_Mutation	DNP	ENST00000596209.1	37	CCDS59369.1																																																																																					0.356	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000464591.1		XM_065124		CT	22940463	AC	CT	22940462	3	2	8	1	0	0	0	0	1	0	0	0	18227	391	14	4	1148	4	ZNF99	19	22940462	Missense_Mutation	DNP	AC	TCGA-2G-AAFH-01A-12D-A42Y-10	576726	22940462	36188521	60	543											
ZNF567	163081	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	37211070	37211071	+	Frame_Shift_Del	DEL	TG	TG	-																															aatcttatgaatgtcctcacTgtgggaaggcctttagaatg																										TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	TG	TG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr19:37211070_37211071delTG	ENST00000536254.2	+	6	1666_1667	c.1444_1445delTG	c.(1444-1446)tgtfs	p.C482fs	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Frame_Shift_Del_p.C451fs|ZNF567_ENST00000392163.2_Frame_Shift_Del_p.C451fs|ZNF567_ENST00000360729.4_Frame_Shift_Del_p.C451fs|ZNF567_ENST00000588311.1_Frame_Shift_Del_p.C451fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	482					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(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGTCCTCACTGTGGGAAGGCC	0.411																																					p.450_451del													.	ZNF567	61		0			c.1350_1351del																																									SO:0001589	frameshift_variant	163081	exon4			CCTCACTGTGGGA	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1444_1445delTG	19.37:g.37211072_37211073delTG	ENSP00000441838:p.Cys482fs		125	0	0		134	0.14	19	NM_152603	24	0	0	B3KX49|Q6N044	Frame_Shift_Del	DEL	ENST00000536254.2	37																																																																																						0.411	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000453549.1		NM_152603		-	37211071	TG	-	37211070	7	5	8	1	0	1	0	1	0	0	0	0	18021	1580	55	0	1361	0	ZNF567	19	37211070	Frame_Shift_Del	DEL	TG	TCGA-2G-AAFH-01A-12D-A42Y-10	14270608	37211070	21917913	61	544											
RYR1	6261	mdanderson.org	37	chr19	38958286	38958286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcgttgtgaccgggtgcGcatcttccgggcagagaaat	7	10	14	10	4	2	2	0	1	2	1	4	3	3	2	2	2	1	3	2	2	1	2			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr19:38958286G>A	ENST00000359596.3	+	25	3215	c.3215G>A	c.(3214-3216)cGc>cAc	p.R1072H	RYR1_ENST00000355481.4_Missense_Mutation_p.R1072H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1072H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1072	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)	GACCGGGTGCGCATCTTCCGG	0.572																																					p.R1072H													RYR1,colon,carcinoma,0,3	RYR1	0	3	0			c.G3215A												104	97	99					19																	38958286		2203	4300	6503	SO:0001583	missense	6261	exon25			GGGTGCGCATCTT	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.3215G>A	19.37:g.38958286G>A	ENSP00000352608:p.Arg1072His		56	0	0		72	0.06	4	NM_001042723	14	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.736858	0.30774	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97642	-4.47;-4.47;-4.47	2.92	2.92	0.33932	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000016	D	0.98635	0.9543	M	0.92367	3.3	0.50632	D	0.999887	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99143	1.0856	10	0.87932	D	0	.	14.736	0.69416	0.0:0.0:1.0:0.0	.	1072;1072	P21817-2;P21817	.;RYR1_HUMAN	H	1072	ENSP00000352608:R1072H;ENSP00000347667:R1072H;ENSP00000354254:R1072H	ENSP00000347667:R1072H	R	+	2	0	RYR1	43650126	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	9.294000	0.96088	1.966000	0.57179	0.154000	0.16183	CGC			0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462137.1				A	38958286	G	A	38958286	3	1	8	1	0	0	0	0	1	0	0	0	13791	1087	38	1	3313	1	RYR1	19	38958286	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	1747216	38958286	20170697	62	545											
ZNF528	84436	mdanderson.org	37	chr19	52919465	52919465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagttttcagaccttactGcccattttctaatccatagt	10	15	6	10	0	2	2	1	0	1	2	3	3	3	2	3	0	2	1	3	0	3	7			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr19:52919465G>T	ENST00000360465.3	+	7	1786	c.1360G>T	c.(1360-1362)Gcc>Tcc	p.A454S	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	454					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)		AGACCTTACTGCCCATTTTCT	0.373																																					p.A454S													.	.			0			c.G1360T												72	73	73					19																	52919465		2202	4300	6502	SO:0001583	missense	84436	exon7			CTTACTGCCCATT	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.1360G>T	19.37:g.52919465G>T	ENSP00000353652:p.Ala454Ser		104	0	0		123	0.04	5	NM_032423	35	0	0	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	2.948	-0.217374	0.06101	.	.	ENSG00000167555	ENST00000360465	T	0.17854	2.25	1.96	-3.92	0.04155	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08223	0.0205	N	0.04018	-0.295	0.09310	N	1	P	0.45212	0.853	P	0.51974	0.686	T	0.06023	-1.0850	9	0.07030	T	0.85	.	3.5526	0.07853	0.4075:0.0:0.4193:0.1732	.	454	Q3MIS6	ZN528_HUMAN	S	454	ENSP00000353652:A454S	ENSP00000353652:A454S	A	+	1	0	ZNF528	57611277	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.704000	0.00388	-1.111000	0.02988	-0.355000	0.07637	GCC			0.373	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344336.1		NM_032423		T	52919465	G	T	52919465	3	4	8	1	0	0	0	0	1	0	0	0	17992	1319	46	2	1374	2	ZNF528	19	52919465	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	13961179	52919465	6209518	63	546											
KCNS1	3787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	43726455	43726455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgccacaccagccagcaGcgtgagatagaagggcagca	13	3	13	12	1	0	2	0	1	0	2	0	3	0	2	3	1	5	3	3	1	2	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr20:43726455G>A	ENST00000306117.1	-	4	1354	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	KCNS1_ENST00000537075.1_Silent_p.L320L	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	320					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CCAGCCAGCAGCGTGAGATAG	0.637																																					p.L320L													.	.			0			c.C958T												70	54	60					20																	43726455		2203	4300	6503	SO:0001819	synonymous_variant	3787	exon4			CCAGCAGCGTGAG	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.958C>T	20.37:g.43726455G>A			39	0	0		62	0.26	16	NM_002251	5	0.4	2	A2RUL9|B7ZM31|O43652|Q6DJU6	Silent	SNP	ENST00000306117.1	37	CCDS13342.1																																																																																					0.637	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080507.3		NM_002251		A	43726455	G	A	43726455	2	1	8	1	0	0	0	0	0	0	0	1	8103	962	34	2		2	KCNS1	20	43726455	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		43726455	19299065	64	547											
MORC3	23515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	37705948	37705948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtttgtttcagctttGcccgaagtttttacatacaa	8	19	6	8	1	1	0	1	0	0	0	1	1	1	0	1	0	4	4	1	0	4	9			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr21:37705948G>T	ENST00000400485.1	+	2	120	c.44G>T	c.(43-45)tGc>tTc	p.C15F	MORC3_ENST00000487909.1_Intron	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	15					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTCAGCTTTGCCCGAAGTTT	0.333																																					p.C15F													.	.			0			c.G44T												142	130	134					21																	37705948		1825	4088	5913	SO:0001583	missense	23515	exon2			AGCTTTGCCCGAA	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.44G>T	21.37:g.37705948G>T	ENSP00000383333:p.Cys15Phe		103	0	0		155	0.13	20	NM_015358	16	0.19	3	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454059	0.63290	.	.	ENSG00000159256	ENST00000400485	T	0.28666	1.6	5.54	5.54	0.83059	.	0.292956	0.43416	D	0.000562	T	0.33294	0.0858	L	0.36672	1.1	0.38838	D	0.956001	D	0.54397	0.966	P	0.47299	0.543	T	0.13019	-1.0525	10	0.59425	D	0.04	-10.4785	16.4921	0.84205	0.0:0.1306:0.8694:0.0	.	15	Q14149	MORC3_HUMAN	F	15	ENSP00000383333:C15F	ENSP00000383333:C15F	C	+	2	0	MORC3	36627818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.660000	0.54496	2.616000	0.88540	0.650000	0.86243	TGC			0.333	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000194640.1		NM_015358		T	37705948	G	T	37705948	3	4	8	1	0	0	0	0	1	0	0	0	9719	1319	46	2	50	2	MORC3	21	37705948	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		37705948	10423947	65	548											
COL18A1	80781	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	46909431	46909431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcctgggctgccgggggCgaaggtaagcgctgtgcccg	4	6	19	12	5	0	0	0	0	0	0	0	1	0	0	3	4	4	3	3	4	2	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr21:46909431C>T	ENST00000359759.4	+	18	3221	c.3200C>T	c.(3199-3201)gCg>gTg	p.A1067V	COL18A1_ENST00000400337.2_Missense_Mutation_p.A652V|COL18A1_ENST00000355480.5_Missense_Mutation_p.A832V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1067	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGCCGGGGGCGAAGGTAAGC	0.711																																					p.A832V													.	.			0			c.C2495T												13	17	16					21																	46909431		1985	4129	6114	SO:0001583	missense	80781	exon18			CGGGGGCGAAGGT		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3200C>T	21.37:g.46909431C>T	ENSP00000352798:p.Ala1067Val		56	0	0		126	0.11	14	NM_030582	115	0.04	5	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37		.	.	.	.	.	.	.	.	.	.	C	13.24	2.179450	0.38511	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.93712	-3.27;-3.27;-3.27	3.74	-1.6	0.08426	.	0.715484	0.12324	U	0.478983	T	0.81049	0.4742	N	0.20685	0.6	0.09310	N	1	B;B;B	0.24576	0.106;0.086;0.086	B;B;B	0.13407	0.009;0.005;0.005	T	0.67158	-0.5741	10	0.16420	T	0.52	.	0.5017	0.00581	0.1801:0.3128:0.1765:0.3306	.	1067;832;652	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	V	652;652;832;1067;1067	ENSP00000383191:A652V;ENSP00000347665:A832V;ENSP00000352798:A1067V	ENSP00000347665:A832V	A	+	2	0	COL18A1	45733859	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.759000	0.04761	-0.203000	0.10251	0.650000	0.86243	GCG			0.711	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000206827.1				T	46909431	C	T	46909431	3	4	8	1	0	0	0	0	1	0	0	0	3677	768	27	1	3384	1	COL18A1	21	46909431	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10	9203483	46909431	1220464	66	549											
CARD10	29775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	37912055	37912055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccaggcgcatggcgatCatgtagttctcatccttgag	7	12	12	10	2	2	1	2	1	1	0	4	2	3	1	2	2	1	3	2	2	1	3			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr22:37912055C>A	ENST00000403299.1	-	4	840	c.624G>T	c.(622-624)atG>atT	p.M208I	CARD10_ENST00000494166.1_5'Flank|CARD10_ENST00000251973.5_Missense_Mutation_p.M208I			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	208					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)					GCATGGCGATCATGTAGTTCT	0.657																																					p.M208I													.	.			0			c.G624T												21	20	20					22																	37912055		2203	4298	6501	SO:0001583	missense	29775	exon3			GGCGATCATGTAG	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.624G>T	22.37:g.37912055C>A	ENSP00000384570:p.Met208Ile		117	0	0		224	0.14	31	NM_014550	75	0.24	18	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377154	0.42105	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	T;T	0.34472	1.36;1.36	5.4	4.32	0.51571	.	0.218245	0.48767	D	0.000176	T	0.21921	0.0528	N	0.16478	0.41	0.27640	N	0.947746	B	0.15473	0.013	B	0.08055	0.003	T	0.07366	-1.0776	10	0.35671	T	0.21	-37.4489	11.0027	0.47616	0.1439:0.7172:0.1389:0.0	.	208	Q9BWT7	CAR10_HUMAN	I	208	ENSP00000384570:M208I;ENSP00000251973:M208I	ENSP00000251973:M208I	M	-	3	0	CARD10	36242001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.844000	0.27654	2.679000	0.91253	0.655000	0.94253	ATG			0.657	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318997.1		NM_014550		A	37912055	C	A	37912055	3	1	8	1	0	0	0	0	1	0	0	0	2646	826	29	3	2546	3	CARD10	22	37912055	Missense_Mutation	SNP	C	TCGA-2G-AAFH-01A-12D-A42Y-10		37912055	13392511	67	550											
CELSR1	9620	broad.mit.edu	37	chr22	46765084	46765084	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccccacttacacgatcccTtttttcccataataatggtg	10	13	5	13	1	0	0	0	0	0	0	2	1	2	0	4	1	2	0	4	1	3	6			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr22:46765084T>C	ENST00000262738.3	-	27	7943	c.7944A>G	c.(7942-7944)aaA>aaG	p.K2648K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2648					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACACGATCCCTTTTTTCCCAT	0.537																																					p.K2648K													.	CELSR1	242		0			c.A7944G												162	149	153					22																	46765084		2203	4300	6503	SO:0001819	synonymous_variant	9620	exon27			GATCCCTTTTTTC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7944A>G	22.37:g.46765084T>C			150	0	0		220	0.02	4	NM_014246	16	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																					0.537	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		C	46765084	T	C	46765084	2	2	8	1	0	0	0	0	0	0	0	1	3223	1606	56	4		4	CELSR1	22	46765084	Silent	SNP	T	TCGA-2G-AAFH-01A-12D-A42Y-10	8853029	46765084	4539482	68	551											
TUBGCP6	85378	mdanderson.org	37	chr22	50657310	50657310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgagcagctctccgggcGtttgcccagctccaagctag	6	9	13	13	2	1	1	0	1	1	0	3	1	2	1	3	2	5	6	3	2	2	3	rs144740402		TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chr22:50657310G>T	ENST00000248846.5	-	21	4747	c.4643C>A	c.(4642-4644)aCg>aAg	p.T1548K	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1548					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCTCCGGGCGTTTGCCCAGC	0.662																																					p.T1548K													TUBGCP6,NS,carcinoma,+1,1	TUBGCP6	1	1	0			c.C4643A												41	45	43					22																	50657310		2203	4300	6503	SO:0001583	missense	85378	exon21			CCGGGCGTTTGCC	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4643C>A	22.37:g.50657310G>T	ENSP00000248846:p.Thr1548Lys		39	0	0		59	0.05	3	NM_020461	48	0	0	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152245	0.38021	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.06528	3.29;3.29	5.16	1.58	0.23477	.	0.389307	0.30850	N	0.008752	T	0.16428	0.0395	M	0.62723	1.935	0.43390	D	0.995509	D;D;D	0.69078	0.997;0.983;0.99	D;P;P	0.67231	0.95;0.81;0.827	T	0.01225	-1.1413	10	0.33141	T	0.24	.	10.1288	0.42665	0.0725:0.2552:0.6723:0.0	.	1540;1548;1548	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	K	1548;234	ENSP00000248846:T1548K;ENSP00000405979:T234K	ENSP00000248846:T1548K	T	-	2	0	TUBGCP6	48999437	1.000000	0.71417	0.666000	0.29783	0.006000	0.05464	4.532000	0.60608	0.513000	0.28278	0.591000	0.81541	ACG			0.662	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075004.3		NM_020461		T	50657310	G	T	50657310	3	4	8	1	0	0	0	0	1	0	0	0	16794	1145	40	1	836	1	TUBGCP6	22	50657310	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	3892226	50657310	647256	69	552											
FRMPD4	9758	mdanderson.org	37	chrX	12734431	12734431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccggggaggccccctGtgaggcagactacagaagtc	9	4	14	14	1	0	3	0	1	0	2	1	4	0	4	4	4	2	1	4	4	2	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chrX:12734431G>T	ENST00000380682.1	+	15	2359	c.1853G>T	c.(1852-1854)tGt>tTt	p.C618F		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	618					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						GAGGCCCCCTGTGAGGCAGAC	0.532																																					p.C618F													.	.			0			c.G1853T												78	78	78					X																	12734431		2203	4300	6503	SO:0001583	missense	9758	exon15			CCCCCTGTGAGGC	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.1853G>T	X.37:g.12734431G>T	ENSP00000370057:p.Cys618Phe		38	0	0		57	0.05	3	NM_014728	1	0	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854255	0.32791	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.22134	1.97	5.86	4.99	0.66335	.	0.417032	0.28156	N	0.016382	T	0.17704	0.0425	L	0.60455	1.87	0.09310	N	1	P;P	0.46706	0.818;0.883	B;B	0.38655	0.232;0.278	T	0.35699	-0.9778	10	0.49607	T	0.09	.	4.0304	0.09706	0.2016:0.0:0.5987:0.1997	.	610;618	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	F	618;609;607	ENSP00000370057:C618F	ENSP00000304583:C607F	C	+	2	0	FRMPD4	12644352	0.997000	0.39634	0.534000	0.28014	0.948000	0.59901	4.596000	0.61055	1.222000	0.43521	0.600000	0.82982	TGT			0.532	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055771.1		XM_045712		T	12734431	G	T	12734431	3	4	8	1	0	0	0	0	1	0	0	0	6072	1377	48	3	1911	3	FRMPD4	23	12734431	Missense_Mutation	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10		12734431	142536129	70	553											
FAM48B1	100130302	hgsc.bcm.edu	37	chrX	24382423	24382423	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctcctgctcctgctcta	1	14	10	16	0	1	0	0	0	1	0	3	0	3	0	2	0	10	10	2	0	1	1			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chrX:24382423G>C								AC004552.1 (15400 upstream) : PDK3 (100914 downstream)																							tgctgctgctgctgctcctgc	0.617																																					p.A516P													.	.			0			c.G1546C																																									SO:0001628	intergenic_variant	100130302	exon1			GCTGCTGCTGCTC																													X.37:g.24382423G>C			71	0	0		160	0.06	9	NM_001136234	0		0		Missense_Mutation	SNP		37																																																																																					0	0.617											C	24382423	G	C	24382423	1	2	8	0	1	0	0	0	0	0	0	0	5586	1319	46	5		5	FAM48B1	23	24382423	IGR	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	11647992	24382423	130888137	71	554											
RGN	9104	mdanderson.org	37	chrX	46951545	46951545	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattactctgaaatgtatgtGacctgcgcccgggatgggat	10	11	12	8	2	1	2	0	2	1	0	1	4	1	4	2	2	2	1	2	2	4	2			TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chrX:46951545G>T	ENST00000352078.4	+	6	1125	c.780G>T	c.(778-780)gtG>gtT	p.V260V	RGN_ENST00000336169.3_Silent_p.V260V|RGN_ENST00000457380.1_Silent_p.V188V|RGN_ENST00000397180.1_Silent_p.V260V	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	260					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						AAATGTATGTGACCTGCGCCC	0.448																																					p.V260V													.	.			0			c.G780T												75	70	71					X																	46951545		2203	4300	6503	SO:0001819	synonymous_variant	9104	exon6			GTATGTGACCTGC	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"senescence marker protein-30", "gluconolactonase"	300212	"regucalcin (senescence marker protein-30)"			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.780G>T	X.37:g.46951545G>T			93	0	0		126	0.04	5	NM_004683	0		0	A4FTW1|A8K271|Q53FC9|Q5JRR5	Silent	SNP	ENST00000352078.4	37	CCDS14272.1																																																																																					0.448	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056385.1		NM_004683		T	46951545	G	T	46951545	2	4	8	1	0	0	0	0	0	0	0	1	13305	1277	45	3		3	RGN	23	46951545	Silent	SNP	G	TCGA-2G-AAFH-01A-12D-A42Y-10	22569122	46951545	108319015	72	555											
AR	367	hgsc.bcm.edu	37	chrX	66765222	66765223	+	Missense_Mutation	DNP	GC	GC	AG																															cagcagcagcagcagcagcaGcagcaagagactagccccag																										TCGA-2G-AAFH-01A-12D-A42Y-10	TCGA-2G-AAFH-10A-01D-A433-10	GC	GC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	258cf1c4-41c5-4e54-ad57-0961483d99ba	bb501e72-c643-4afb-b1e8-56593b08cb2f	g.chrX:66765222_66765223GC>AG	ENST00000374690.3	+	1	758_759	c.234_235GC>AG	c.(232-237)caGCag>caAGag	p.Q79E	AR_ENST00000504326.1_Missense_Mutation_p.Q79E|AR_ENST00000396044.3_Missense_Mutation_p.Q79E|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	78	Gln-rich.|Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|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)|RNA polymerase II transcription factor binding (GO:0001085)|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)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	agcagcagcagcagcaagagac	0.653									Androgen Insensitivity Syndrome																												p.Q79E													.	.			0			c.C235G																																									SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	GCAGCAGCAGCAA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	Exception_encountered	X.37:g.66765222_66765223delinsAG	ENSP00000363822:p.Gln79Glu		107	0	0		145	0.06	8	NM_000044	0		0	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	DNP	ENST00000374690.3	37	CCDS14387.1																																																																																					0.653	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057007.1		NM_000044		AG	66765223	GC	AG	66765222	3	1	8	1	0	0	0	0	1	0	0	0	836	962	34	2	236	2	AR	23	66765222	Missense_Mutation	DNP	GC	TCGA-2G-AAFH-01A-12D-A42Y-10	19813677	66765222	88505338	73	556											
WASF2	10163	broad.mit.edu	37	chr1	27736343	27736343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccggaggaggaggaggaggGggaggaggaggtgctcctcc	8	3	22	8	1	0	0	0	0	0	0	2	8	2	8	3	10	1	1	3	10	0	0	rs200541363		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:27736343G>A	ENST00000430629.2	-	8	1397	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	394	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		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;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggagggggaggaggag	0.637																																					p.P394P													.	WASF2	41		0			c.C1182T												53	55	54					1																	27736343		2203	4300	6503	SO:0001819	synonymous_variant	10163	exon8			AGGAGGGGGAGGA	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1182C>T	1.37:g.27736343G>A			181	0.0055248619	1		230	0.02	4	NM_006990	48	0	0	B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	CCDS304.1																																																																																					0.637	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009516.1		NM_006990		A	27736343	G	A	27736343	2	1	9	1	0	0	0	0	0	0	0	1	17277	1219	43	3		3	WASF2	1	27736343	Silent	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		27736343	221514278	1	557											
CACHD1	57685	broad.mit.edu	37	chr1	65147783	65147783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgatcaggaacagaaagtGatcatggtaaggtctagctt	13	10	12	6	1	3	2	2	1	1	1	4	4	3	3	0	3	2	2	0	3	4	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:65147783G>T	ENST00000371073.2	+	26	3580	c.3580G>T	c.(3580-3582)Gat>Tat	p.D1194Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.D1143Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1194					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						AACAGAAAGTGATCATGGTAA	0.483																																					p.D1143Y													.	CACHD1	125		0			c.G3427T												108	95	99					1																	65147783		2203	4300	6503	SO:0001583	missense	57685	exon26			GAAAGTGATCATG	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.3580G>T	1.37:g.65147783G>T	ENSP00000360113:p.Asp1194Tyr		225	0	0		282	0.01	4	NM_020925	81	0	0	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	G	24.4	4.524875	0.85600	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.66995	-0.24;-0.17	5.91	5.91	0.95273	.	0.044424	0.85682	D	0.000000	T	0.76976	0.4063	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.77443	-0.2586	10	0.87932	D	0	-27.4144	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1194	Q5VU97	CAHD1_HUMAN	Y	1194;1143	ENSP00000360113:D1194Y;ENSP00000290039:D1143Y	ENSP00000290039:D1143Y	D	+	1	0	CACHD1	64920371	1.000000	0.71417	0.989000	0.46669	0.673000	0.39480	9.374000	0.97172	2.793000	0.96121	0.655000	0.94253	GAT			0.483	CACHD1-201	KNOWN	basic	protein_coding	protein_coding				NM_020925		T	65147783	G	T	65147783	3	4	9	1	0	0	0	0	1	0	0	0	2539	1290	45	3	3529	3	CACHD1	1	65147783	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	37411440	65147783	184102838	2	558											
CACNA1E	777	mdanderson.org	37	chr1	181767679	181767679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaactctccgcacccccaGcagagccaacatgcctcccc	9	5	5	22	1	1	1	0	0	1	1	4	1	3	1	8	0	5	2	8	0	2	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:181767679G>T	ENST00000367573.2	+	48	6651	c.6651G>T	c.(6649-6651)caG>caT	p.Q2217H	CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q2106H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q2168H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.Q2155H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1781H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q2174H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q2198H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2217					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						CGCACCCCCAGCAGAGCCAAC	0.622																																					p.Q2217H													.	.			0			c.G6651T												51	59	57					1																	181767679		2144	4251	6395	SO:0001583	missense	777	exon48			CCCCCAGCAGAGC	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.6651G>T	1.37:g.181767679G>T	ENSP00000356545:p.Gln2217His		48	0	0		56	0.05	3	NM_001205293	1	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151457	0.21371	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96427	-3.94;-3.94;-3.91;-3.94;-4.01;-3.91;-3.91	5.41	2.23	0.28157	.	1.820600	0.02616	N	0.102656	D	0.92116	0.7501	N	0.24115	0.695	0.28254	N	0.925136	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.82291	-0.0530	10	0.14252	T	0.57	.	9.0204	0.36195	0.0:0.2895:0.4468:0.2637	.	2155;2174	Q15878-2;Q15878-3	.;.	H	2174;2155;2168;2106;1781;2198;2217	ENSP00000356542:Q2174H;ENSP00000434814:Q2155H;ENSP00000350183:Q2168H;ENSP00000351101:Q2106H;ENSP00000356539:Q1781H;ENSP00000353222:Q2198H;ENSP00000356545:Q2217H	ENSP00000350183:Q2168H	Q	+	3	2	CACNA1E	180034302	0.335000	0.24748	0.529000	0.27951	0.630000	0.37929	0.624000	0.24462	0.596000	0.29794	0.558000	0.71614	CAG			0.622	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000090793.2		NM_000721		T	181767679	G	T	181767679	3	4	9	1	0	0	0	0	1	0	0	0	2544	962	34	2	6708	2	CACNA1E	1	181767679	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	116619896	181767679	67482942	3	559											
ZNF496	84838	mdanderson.org	37	chr1	247464565	247464565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgttctctagagatcgCgggttgccgccagctacagg	7	9	14	11	3	1	1	0	0	1	1	3	2	1	1	2	3	3	4	2	3	2	4	rs368972635		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:247464565C>T	ENST00000294753.4	-	9	1484	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	ZNF496_ENST00000366498.2_Silent_p.P376P|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	340					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTAGAGATCGCGGGTTGCCGC	0.602																																					p.P340P													.	.			0			c.G1020A							C		0,4276		0,0,2138	60	68	65		1020	-8.2	0	1		65	1,8329		0,1,4164	no	coding-synonymous	ZNF496	NM_032752.1		0,1,6302	TT,TC,CC		0.012,0.0,0.0079		340/588	247464565	1,12605	2138	4165	6303	SO:0001819	synonymous_variant	84838	exon9			AGATCGCGGGTTG	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1020G>A	1.37:g.247464565C>T			28	0	0		51	0.06	3	NM_032752	96	0	0	Q8TBS2	Silent	SNP	ENST00000294753.4	37	CCDS1631.1																																																																																					0.602	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098655.2		NM_032752		T	247464565	C	T	247464565	2	4	9	1	0	0	0	0	0	0	0	1	17968	755	27	1		1	ZNF496	1	247464565	Silent	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10	65696886	247464565	1786056	4	560											
HIBCH	26275	ucsc.edu	37	chr2	191161637	191161637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccgtgcaaccttttttttCcaatagcacctcttctgctg	6	16	5	14	1	2	0	0	0	2	0	4	0	4	0	4	0	4	3	4	0	3	6			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr2:191161637C>T	ENST00000359678.5	-	3	415	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	HIBCH_ENST00000392332.3_Missense_Mutation_p.E41K	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	41				E -> G (in Ref. 5; AAH67822). {ECO:0000305}.	branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCTTTTTTTTCCAATAGCACC	0.368																																					p.E41K													.	HIBCH	28		0			c.G121A												117	104	109					2																	191161637		2202	4300	6502	SO:0001583	missense	26275	exon3			TTTTTTCCAATAG	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.121G>A	2.37:g.191161637C>T	ENSP00000352706:p.Glu41Lys		174	0.0057471264	1		173	0.01	1	NM_014362	40	0.13	5	D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699727	0.48307	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.74632	-0.86;-0.86;0.7	5.29	5.29	0.74685	.	0.300919	0.41001	N	0.000975	T	0.67692	0.2920	L	0.52126	1.63	0.80722	D	1	B;B	0.14012	0.009;0.005	B;B	0.20577	0.03;0.013	T	0.64635	-0.6361	10	0.45353	T	0.12	-6.4799	10.0145	0.42006	0.0:0.9082:0.0:0.0918	.	41;41	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	K	41;41;95	ENSP00000376144:E41K;ENSP00000352706:E41K;ENSP00000387247:E95K	ENSP00000352706:E41K	E	-	1	0	HIBCH	190869882	1.000000	0.71417	0.960000	0.40013	0.631000	0.37964	3.764000	0.55264	2.503000	0.84419	0.650000	0.86243	GAA			0.368	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255933.1				T	191161637	C	T	191161637	3	4	9	1	0	0	0	0	1	0	0	0	7115	864	30	3	1087	3	HIBCH	2	191161637	Missense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10		191161637	52037736	5	561											
BRPF1	7862	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr3	9783003	9783003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctacagagagattctgaGgataagaactgggcccttaa	13	9	10	9	0	2	4	0	1	2	3	2	6	2	5	2	2	2	0	2	2	4	4			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:9783003G>T	ENST00000457855.1	+	4	1745	c.1734G>T	c.(1732-1734)gaG>gaT	p.E578D	BRPF1_ENST00000383829.2_Missense_Mutation_p.E578D|BRPF1_ENST00000433861.2_Missense_Mutation_p.E578D|BRPF1_ENST00000302054.3_Missense_Mutation_p.E578D|BRPF1_ENST00000424362.1_Missense_Mutation_p.E578D			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	578	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GAGATTCTGAGGATAAGAACT	0.532																																					p.E578D													.	.			0			c.G1734T												77	82	80					3																	9783003		2203	4300	6503	SO:0001583	missense	7862	exon5			TTCTGAGGATAAG	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1734G>T	3.37:g.9783003G>T	ENSP00000410210:p.Glu578Asp		67	0	0		73	0.05	4	NM_001003694	29	0	0	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198113	0.22037	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.17054	2.31;2.3;3.7;2.3;2.3	5.91	3.15	0.36227	.	0.148955	0.64402	N	0.000012	T	0.08179	0.0204	N	0.12663	0.25	0.47547	D	0.99945	B;B;B;B	0.09022	0.002;0.001;0.001;0.0	B;B;B;B	0.11329	0.006;0.004;0.004;0.002	T	0.24905	-1.0147	10	0.11794	T	0.64	.	8.7064	0.34356	0.1297:0.0:0.7457:0.1246	.	578;578;578;578	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	D	578	ENSP00000402485:E578D;ENSP00000398863:E578D;ENSP00000373340:E578D;ENSP00000306297:E578D;ENSP00000410210:E578D	ENSP00000306297:E578D	E	+	3	2	BRPF1	9758003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.298000	0.43602	0.393000	0.25203	0.655000	0.94253	GAG			0.532	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000338485.1		NM_001003694		T	9783003	G	T	9783003	3	4	9	1	0	0	0	0	1	0	0	0	1522	991	35	3	1748	3	BRPF1	3	9783003	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		9783003	188239427	6	562											
FGD5	152273	broad.mit.edu	37	chr3	14941958	14941958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgagtacgacaacacacAgggtgagtccagcgtgaatg	12	5	13	11	4	0	2	0	2	0	0	1	4	1	2	2	1	3	1	2	1	3	1			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:14941958A>G	ENST00000285046.5	+	8	3313	c.3203A>G	c.(3202-3204)cAg>cGg	p.Q1068R	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.Q827R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1068	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						GACAACACACAGGGTGAGTCC	0.567																																					p.Q1068R													.	FGD5	248		0			c.A3203G												31	33	33					3																	14941958		2167	4274	6441	SO:0001583	missense	152273	exon8			ACACACAGGGTGA	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.3203A>G	3.37:g.14941958A>G	ENSP00000285046:p.Gln1068Arg		255	0	0		286	0.02	7	NM_152536	3	0	0	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103466	0.76983	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.63913	-0.07;-0.07	4.49	4.49	0.54785	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000056	T	0.68458	0.3003	M	0.75777	2.31	0.46078	D	0.998857	P;P	0.52316	0.952;0.887	P;P	0.51582	0.599;0.674	T	0.69960	-0.5003	10	0.41790	T	0.15	-31.4473	10.483	0.44704	1.0:0.0:0.0:0.0	.	827;1068	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	R	1068;827	ENSP00000285046:Q1068R;ENSP00000445949:Q827R	ENSP00000285046:Q1068R	Q	+	2	0	FGD5	14916962	1.000000	0.71417	0.969000	0.41365	0.910000	0.53928	4.421000	0.59848	1.793000	0.52555	0.482000	0.46254	CAG			0.567	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340628.1		NM_152536		G	14941958	A	G	14941958	3	3	9	1	0	0	0	0	1	0	0	0	5849	188	7	4	3233	4	FGD5	3	14941958	Missense_Mutation	SNP	A	TCGA-2G-AAFI-01A-21D-A42Y-10	5158955	14941958	183080472	7	563											
CACNA1D	776	broad.mit.edu	37	chr3	53839099	53839099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccccaaggattcttggAggacgatgactcgcccgttt	8	11	10	12	3	2	1	1	1	1	0	4	5	3	4	3	3	0	1	3	3	1	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:53839099A>G	ENST00000350061.5	+	45	6186	c.5675A>G	c.(5674-5676)gAg>gGg	p.E1892G	CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1868G|CACNA1D_ENST00000544977.1_Missense_Mutation_p.E271G|CACNA1D_ENST00000288139.4_Missense_Mutation_p.E1912G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1892					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)	GGATTCTTGGAGGACGATGAC	0.532																																					p.E1912G													.	CACNA1D	324		0			c.A5735G												98	95	96					3																	53839099		2203	4300	6503	SO:0001583	missense	776	exon46			TCTTGGAGGACGA	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.5675A>G	3.37:g.53839099A>G	ENSP00000288133:p.Glu1892Gly		64	0.015625	1		89	0.03	3	NM_000720	0		0	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123894	0.56613	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	4.8	4.8	0.61643	.	0.468641	0.16989	N	0.191372	T	0.50718	0.1632	L	0.55834	1.745	0.53688	D	0.999972	B;B;P;B	0.35174	0.003;0.06;0.488;0.051	B;B;B;B	0.29862	0.004;0.031;0.108;0.046	T	0.49173	-0.8967	10	0.25751	T	0.34	.	14.7133	0.69249	1.0:0.0:0.0:0.0	.	1868;1585;1892;1912	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	G	1892;1912;1868;1585;271	ENSP00000288133:E1892G;ENSP00000288139:E1912G;ENSP00000409174:E1868G;ENSP00000418014:E1585G;ENSP00000440956:E271G	ENSP00000288139:E1912G	E	+	2	0	CACNA1D	53814139	1.000000	0.71417	0.941000	0.38009	0.907000	0.53573	8.664000	0.91139	1.952000	0.56665	0.529000	0.55759	GAG			0.532	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350557.1		NM_000720		G	53839099	A	G	53839099	3	3	9	1	0	0	0	0	1	0	0	0	2543	304	11	4	6025	4	CACNA1D	3	53839099	Missense_Mutation	SNP	A	TCGA-2G-AAFI-01A-21D-A42Y-10	38897141	53839099	144183331	8	564											
PRICKLE2	166336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	64133021	64133021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaggctgggtgtctggctgGacaggctgagcatgtccatc	6	10	16	9	0	1	2	0	2	1	0	3	3	2	3	1	5	1	4	1	5	0	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:64133021G>A	ENST00000295902.6	-	7	1730	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S438F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	382					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)		TGTCTGGCTGGACAGGCTGAG	0.602																																					p.S382F													PRICKLE2,colon,carcinoma,-1,1	PRICKLE2	-1	1	0			c.C1145T												78	87	84					3																	64133021		2203	4300	6503	SO:0001583	missense	166336	exon7			TGGCTGGACAGGC	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.1145C>T	3.37:g.64133021G>A	ENSP00000295902:p.Ser382Phe		80	0	0		78	0.45	35	NM_198859	2	0	0	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215336	0.39102	.	.	ENSG00000163637	ENST00000295902	T	0.62788	0.0	5.94	5.07	0.68467	.	0.080572	0.52532	D	0.000062	T	0.62756	0.2454	L	0.54323	1.7	0.58432	D	0.999992	P	0.42123	0.771	B	0.43575	0.424	T	0.65059	-0.6260	10	0.49607	T	0.09	-37.2493	15.3172	0.74089	0.0671:0.0:0.9329:0.0	.	382	Q7Z3G6	PRIC2_HUMAN	F	382	ENSP00000295902:S382F	ENSP00000295902:S382F	S	-	2	0	PRICKLE2	64108061	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	9.675000	0.98638	1.529000	0.49120	-0.291000	0.09656	TCC			0.602	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000352219.1		NM_198859		A	64133021	G	A	64133021	3	1	9	1	0	0	0	0	1	0	0	0	12507	1174	41	3	1397	3	PRICKLE2	3	64133021	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	10293922	64133021	133889409	9	565											
MYH15	22989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	108189650	108189650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccactagccacttaaacatCctttcatacattgacttgga	12	12	5	12	0	1	1	1	1	0	0	2	2	2	2	3	1	3	0	3	1	4	6			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:108189650C>G	ENST00000273353.3	-	14	1394	c.1338G>C	c.(1336-1338)agG>agC	p.R446S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	446	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACTTAAACATCCTTTCATACA	0.453																																					p.R446S													.	.			0			c.G1338C												105	95	98					3																	108189650		1988	4172	6160	SO:0001583	missense	22989	exon14			AAACATCCTTTCA	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.1338G>C	3.37:g.108189650C>G	ENSP00000273353:p.Arg446Ser		140	0	0		170	0.14	24	NM_014981	0		0		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513047	0.64522	.	.	ENSG00000144821	ENST00000273353	D	0.89196	-2.48	5.77	1.97	0.26223	Myosin head, motor domain (2);	.	.	.	.	D	0.91901	0.7436	M	0.87180	2.865	0.29556	N	0.850966	P	0.37914	0.611	P	0.52627	0.704	D	0.86694	0.1925	9	0.87932	D	0	.	1.3328	0.02138	0.1402:0.3789:0.1366:0.3443	.	446	Q9Y2K3	MYH15_HUMAN	S	446	ENSP00000273353:R446S	ENSP00000273353:R446S	R	-	3	2	MYH15	109672340	0.013000	0.17824	0.318000	0.25279	0.988000	0.76386	-0.429000	0.06982	0.075000	0.16796	0.650000	0.86243	AGG			0.453	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353935.1		XM_036988		G	108189650	C	G	108189650	3	3	9	1	0	0	0	0	1	0	0	0	10050	854	30	5	4618	5	MYH15	3	108189650	Missense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10	44056629	108189650	89832780	10	566											
MED12L	116931	broad.mit.edu	37	chr3	150881773	150881773	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcacccctggatctgctgCaggtggccccgtccagcctc	4	8	11	18	1	2	0	1	0	1	0	4	1	3	1	6	3	3	3	6	3	0	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:150881773C>T	ENST00000474524.1	+	8	1239	c.1201C>T	c.(1201-1203)Cag>Tag	p.Q401*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Nonsense_Mutation_p.Q401*|MED12L_ENST00000309237.4_Nonsense_Mutation_p.Q401*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	401			Q -> P (in dbSNP:rs17290219).			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)			GGATCTGCTGCAGGTGGCCCC	0.507																																					p.Q401X													.	MED12L	271		0			c.C1201T												58	56	57					3																	150881773		2203	4300	6503	SO:0001587	stop_gained	116931	exon8			CTGCTGCAGGTGG	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.1201C>T	3.37:g.150881773C>T	ENSP00000417235:p.Gln401*		130	0	0		181	0.02	4	NM_053002	7	0	0	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	37	5.997566	0.97184	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	.	.	.	5.02	5.02	0.67125	.	0.066654	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.7353	17.9376	0.89017	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000310760:Q401X	Q	+	1	0	MED12L	152364463	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	7.082000	0.76851	2.317000	0.78254	0.655000	0.94253	CAG			0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357707.2		NM_053002		T	150881773	C	T	150881773	4	4	9	1	0	0	0	0	0	1	0	0	9445	711	25	2	1231	2	MED12L	3	150881773	Nonsense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10	42692123	150881773	47140657	11	567											
FGF12	2257	mdanderson.org	37	chr3	192125818	192125818	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcttctactgacctggTctccgcctcaccggcctctt	3	11	9	18	3	4	1	1	1	3	0	5	1	4	1	6	3	1	1	6	3	1	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:192125818T>C	ENST00000454309.2	-	1	1020	c.195A>G	c.(193-195)agA>agG	p.R65R	FGF12_ENST00000264730.3_Intron|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000445105.2_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	65					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ACTGACCTGGTCTCCGCCTCA	0.662																																					p.R65R													.	.			0			c.A195G												67	78	74					3																	192125818		2169	4242	6411	SO:0001819	synonymous_variant	2257	exon1			ACCTGGTCTCCGC	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b"	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.195A>G	3.37:g.192125818T>C			48	0	0		43	0.07	3	NM_021032	1	0	0	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	ENST00000454309.2	37	CCDS3301.1																																																																																					0.662	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343160.1		NM_021032		C	192125818	T	C	192125818	2	2	9	1	0	0	0	0	0	0	0	1	5854	1664	58	4		4	FGF12	3	192125818	Silent	SNP	T	TCGA-2G-AAFI-01A-21D-A42Y-10	41244045	192125818	5896612	12	568											
GAK	2580	mdanderson.org	37	chr4	877844	877844	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaattctggatgtgatGtaagatatgtccaggtcacc	10	12	10	9	0	2	2	1	1	1	1	3	3	3	3	3	2	1	2	3	2	3	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr4:877844G>T	ENST00000314167.4	-	12	1346	c.1236C>A	c.(1234-1236)taC>taA	p.Y412*	GAK_ENST00000511163.1_Nonsense_Mutation_p.Y333*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	412	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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)		TGGATGTGATGTAAGATATGT	0.517																																					p.Y412X													.	.			0			c.C1236A												127	106	113					4																	877844		2203	4300	6503	SO:0001587	stop_gained	2580	exon12			TGTGATGTAAGAT	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.1236C>A	4.37:g.877844G>T	ENSP00000314499:p.Tyr412*		70	0	0		86	0.05	4	NM_005255	64	0	0	Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	40	8.376798	0.98784	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.4656	16.906	0.86128	0.0:0.0:1.0:0.0	.	.	.	.	X	412;333	.	ENSP00000314499:Y412X	Y	-	3	2	GAK	867844	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.048000	0.49862	2.661000	0.90470	0.655000	0.94253	TAC			0.517	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239188.1		NM_005255		T	877844	G	T	877844	4	4	9	1	0	0	0	0	0	1	0	0	6209	1372	48	3	2767	3	GAK	4	877844	Nonsense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		877844	190276432	13	569											
WHSC1	7468	mdanderson.org	37	chr4	1978397	1978397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctgggccttggcaagCggcccttcggtgggtgtgca	3	9	16	13	2	0	0	0	0	0	0	1	0	0	0	4	5	3	2	4	5	1	2			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr4:1978397C>T	ENST00000382895.3	+	23	4248	c.3817C>T	c.(3817-3819)Cgg>Tgg	p.R1273W	SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.R621W|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1273W|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1273W|WHSC1_ENST00000508803.1_Missense_Mutation_p.R1273W	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1273					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTTGGCAAGCGGCCCTTCGG	0.672			T	IGH@	MM																																p.R1273W				Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	.			0			c.C3817T												51	37	42					4																	1978397		2200	4297	6497	SO:0001583	missense	7468	exon21			GGCAAGCGGCCCT	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3817C>T	4.37:g.1978397C>T	ENSP00000372351:p.Arg1273Trp		60	0	0		51	0.06	3	NM_133335	40	0	0	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508976	0.64410	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	4.79	3.04	0.35103	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.294153	0.24143	N	0.041156	D	0.94102	0.8109	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.952;0.999	D	0.92132	0.5713	10	0.56958	D	0.05	.	7.3187	0.26515	0.2997:0.6229:0.0:0.0774	.	621;1273	A2A2T2;O96028	.;NSD2_HUMAN	W	1273;1273;1273;1273;621	ENSP00000423972:R1273W;ENSP00000372347:R1273W;ENSP00000372348:R1273W;ENSP00000372351:R1273W;ENSP00000372344:R621W	ENSP00000372344:R621W	R	+	1	2	WHSC1	1948195	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.415000	0.44635	0.597000	0.29811	0.557000	0.71058	CGG			0.672	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366269.2		NM_133330		T	1978397	C	T	1978397	3	4	9	1	0	0	0	0	1	0	0	0	17386	759	27	1	3971	1	WHSC1	4	1978397	Missense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10	1100553	1978397	189175879	14	570											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-																															tcgagtccctcaagtccttcCagcagcagcagcagcagcag																								rs71180116|rs374076986	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704																																					p.18_18del													.	HTT	221		0			c.52_54del																																									SO:0001651	inframe_deletion	3064	exon1			TCCTTCCAGCAGC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.52_54delCAG	4.37:g.3076613_3076615delCAG	ENSP00000347184:p.Gln38del		6	0	0		8	0.38	3	NM_002111	4	0	0	Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	CCDS43206.1																																																																																					0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358234.2		NM_002111		-	3076606	CAG	-	3076604	7	5	9	1	0	1	0	1	0	0	0	0	7472	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAG	TCGA-2G-AAFI-01A-21D-A42Y-10	1098207	3076604	188077672	15	571											
TRIO	7204	mdanderson.org	37	chr5	14507271	14507271	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggactgcgtggtgcgatggGgaagcctcactgaagggaag	9	7	18	7	2	1	1	1	1	0	0	1	5	1	4	1	5	3	0	1	5	3	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr5:14507271G>T	ENST00000344204.4	+	56	8677	c.8653G>T	c.(8653-8655)Gga>Tga	p.G2885*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.G2709*|TRIO_ENST00000344135.5_Nonsense_Mutation_p.G384*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGCGATGGGGAAGCCTCAC	0.582																																					p.G2885X													.	.			0			c.G8653T												70	63	66					5																	14507271		2203	4300	6503	SO:0001587	stop_gained	7204	exon56			CGATGGGGAAGCC	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.8653G>T	5.37:g.14507271G>T	ENSP00000339299:p.Gly2885*		40	0	0		37	0.08	3	NM_007118	24	0	0	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	50	16.649316	0.99868	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	.	.	.	X	2885;2709;384	.	ENSP00000339291:G384X	G	+	1	0	TRIO	14560271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.831000	0.99420	2.643000	0.89663	0.655000	0.94253	GGA			0.582	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253711.2		NM_007118		T	14507271	G	T	14507271	4	4	9	1	0	0	0	0	0	1	0	0	16576	1233	43	3	8875	3	TRIO	5	14507271	Nonsense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		14507271	166407989	16	572											
MEGF10	84466	broad.mit.edu	37	chr5	126758405	126758405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagcgctgcgactgcaGccacgcagatggctgccacc	7	6	13	15	3	0	2	0	1	0	1	0	3	0	2	3	1	6	5	3	1	0	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr5:126758405G>T	ENST00000274473.6	+	14	1901	c.1634G>T	c.(1633-1635)aGc>aTc	p.S545I	MEGF10_ENST00000508365.1_Missense_Mutation_p.S545I|MEGF10_ENST00000503335.2_Missense_Mutation_p.S545I|MEGF10_ENST00000418761.2_Missense_Mutation_p.S545I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	545	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCGACTGCAGCCACGCAGAT	0.597																																					p.S545I													.	MEGF10	152		0			c.G1634T												40	38	39					5																	126758405		2203	4300	6503	SO:0001583	missense	84466	exon14			ACTGCAGCCACGC	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1634G>T	5.37:g.126758405G>T	ENSP00000274473:p.Ser545Ile		147	0.0136054422	2		140	0.05	7	NM_032446	2	0	0	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781470	0.70222	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.28	5.28	0.74379	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.67397	2.05	0.80722	D	1	B;P	0.46457	0.046;0.878	B;P	0.48114	0.041;0.567	T	0.56323	-0.7998	10	0.37606	T	0.19	-32.7821	19.2744	0.94026	0.0:0.0:1.0:0.0	.	545;545	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	I	545	ENSP00000423354:S545I;ENSP00000423195:S545I;ENSP00000416284:S545I;ENSP00000274473:S545I	ENSP00000274473:S545I	S	+	2	0	MEGF10	126786304	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.704000	0.68347	2.636000	0.89361	0.650000	0.86243	AGC			0.597	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250973.2		NM_032446		T	126758405	G	T	126758405	3	4	9	1	0	0	0	0	1	0	0	0	9476	971	34	2	1680	2	MEGF10	5	126758405	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	112251134	126758405	54156855	17	573											
HIST1H4A	8359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26021940	26021940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaagggcgggaagggtttgGgtaaggggggtgccaagcgc	8	6	22	5	2	0	0	0	0	0	0	0	1	0	1	1	7	2	3	1	7	4	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr6:26021940G>A	ENST00000359907.3	+	1	34	c.34G>A	c.(34-36)Ggt>Agt	p.G12S		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	12					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(1)|skin(1)	2						GAAGGGTTTGGGTAAGGGGGG	0.562																																					p.G12S													.	.			0			c.G34A												54	56	55					6																	26021940		2203	4300	6503	SO:0001583	missense	8359	exon1			GGTTTGGGTAAGG	X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"Histones / Replication-dependent"	4781	protein-coding gene	gene with protein product		602822	"H4 histone family, member A", "histone 1, H4a"	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.34G>A	6.37:g.26021940G>A	ENSP00000352980:p.Gly12Ser		132	0	0		131	0.1	13	NM_003538	0		0	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	CCDS4571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.7|20.7	4.030338|4.030338	0.75504|0.75504	.|.	.|.	ENSG00000196176|ENSG00000196176	ENST00000358910|ENST00000359907	.|.	.|.	.|.	3.79|3.79	3.79|3.79	0.43588|0.43588	.|.	0.000000|.	0.38897|.	U|.	0.001521|.	T|T	0.67979|0.67979	0.2951|0.2951	.|.	.|.	.|.	0.46078|0.46078	D|D	0.998853|0.998853	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73572|0.73572	-0.3940|-0.3940	6|5	0.37606|0.66056	T|D	0.19|0.02	.|.	15.5278|15.5278	0.75925|0.75925	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|S	12|12	.|.	ENSP00000445096:A12T|ENSP00000352980:G12S	A|G	+|+	1|1	0|0	HIST1H4A|HIST1H4A	26129919|26129919	1.000000|1.000000	0.71417|0.71417	0.053000|0.053000	0.19242|0.19242	0.995000|0.995000	0.86356|0.86356	9.231000|9.231000	0.95317|0.95317	2.033000|2.033000	0.60031|0.60031	0.655000|0.655000	0.94253|0.94253	GCT|GGT			0.562	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040081.1		NM_003538		A	26021940	G	A	26021940	3	1	9	1	0	0	0	0	1	0	0	0	7180	1232	43	3	36	3	HIST1H4A	6	26021940	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		26021940	145093127	18	574											
MUC21	394263	broad.mit.edu	37	chr6	30954813	30954813	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggatcagcacagtcaccaaTtctgagtccagcacaccctc	11	7	8	15	0	3	1	2	1	1	0	5	2	4	2	3	1	2	2	3	1	1	1	rs9262371		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr6:30954813T>C	ENST00000376296.3	+	2	1102	c.861T>C	c.(859-861)aaT>aaC	p.N287N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	287	28 X 15 AA approximate tandem repeats.|Ser-rich.				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						CAGTCACCAATTCTGAGTCCA	0.602																																					p.N287N													.	MUC21	98		0			c.T861C												206	198	201					6																	30954813		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			CACCAATTCTGAG	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.861T>C	6.37:g.30954813T>C			82	0.012195122	1		66	0.06	4	NM_001010909	0		0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																					0.602	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909		C	30954813	T	C	30954813	2	2	9	1	0	0	0	0	0	0	0	1	9993	1490	52	4		4	MUC21	6	30954813	Silent	SNP	T	TCGA-2G-AAFI-01A-21D-A42Y-10	4932873	30954813	140160254	19	575											
ANKRD6	22881	broad.mit.edu	37	chr6	90276712	90276712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcatgagccagcaagatgCggtcgctgcactttcagagc	10	9	11	11	2	2	3	2	1	0	2	3	3	2	3	1	1	5	3	1	1	1	2	rs200814043		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr6:90276712C>T	ENST00000522441.1	+	2	658	c.17C>T	c.(16-18)gCg>gTg	p.A6V	ANKRD6_ENST00000339746.4_Missense_Mutation_p.A6V|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000485637.1_Missense_Mutation_p.A6V|ANKRD6_ENST00000520886.2_Intron|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000369408.5_Missense_Mutation_p.A6V|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A6V|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A6V	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	6					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGCAAGATGCGGTCGCTGCA	0.542																																					p.A6V													.	ANKRD6	51		0			c.C17T												51	50	50					6																	90276712		1968	4154	6122	SO:0001583	missense	22881	exon2			AAGATGCGGTCGC	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.17C>T	6.37:g.90276712C>T	ENSP00000430985:p.Ala6Val		223	0.0089686099	2		273	0.02	6	NM_001242809	4	0	0	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802800	0.50315	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000520458;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000522779;ENST00000485637;ENST00000522705;ENST00000518150;ENST00000520793	T;T;T;T;T;T;T;T;T;T	0.68331	1.11;1.15;1.14;0.44;-0.26;0.77;1.15;-0.32;1.09;-0.32	5.89	2.65	0.31530	.	0.129187	0.35320	N	0.003287	T	0.18551	0.0445	N	0.08118	0	0.34072	D	0.658613	B;B;B;B	0.14438	0.008;0.001;0.001;0.01	B;B;B;B	0.09377	0.003;0.002;0.004;0.002	T	0.03443	-1.1036	10	0.22109	T	0.4	-9.2324	3.5245	0.07755	0.1892:0.4911:0.0:0.3197	.	6;6;6;6	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	V	6	ENSP00000358416:A6V;ENSP00000345767:A6V;ENSP00000396771:A6V;ENSP00000431061:A6V;ENSP00000429431:A6V;ENSP00000428377:A6V;ENSP00000430985:A6V;ENSP00000430954:A6V;ENSP00000428309:A6V;ENSP00000429782:A6V	ENSP00000345767:A6V	A	+	2	0	ANKRD6	90333431	0.539000	0.26402	0.998000	0.56505	0.959000	0.62525	0.529000	0.23019	0.788000	0.33755	0.655000	0.94253	GCG			0.542	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000376594.1				T	90276712	C	T	90276712	3	4	9	1	0	0	0	0	1	0	0	0	685	768	27	1	19	1	ANKRD6	6	90276712	Missense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10	59321899	90276712	80838355	20	576											
TTLL2	83887	mdanderson.org	37	chr6	167754661	167754661	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctaagaaatgaggggAgagaagccagtaatgccaca	16	6	13	6	0	1	3	0	1	1	2	1	5	1	4	2	3	2	1	2	3	4	2	rs909545	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr6:167754661A>T	ENST00000239587.5	+	3	1361	c.1273A>T	c.(1273-1275)Aga>Tga	p.R425*		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	425	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.		R -> G (in dbSNP:rs909545). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AAATGAGGGGAGAGAAGCCAG	0.423																																					p.R425X													.	.			0			c.A1273T												80	83	82					6																	167754661		2203	4300	6503	SO:0001587	stop_gained	83887	exon3			GAGGGGAGAGAAG	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1273A>T	6.37:g.167754661A>T	ENSP00000239587:p.Arg425*		98	0	0		105	0.03	3	NM_031949	0		0	B2RB11|B3KS77|Q7Z6R8|Q86X22	Nonsense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235921	0.79800	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	.	.	.	3.61	2.4	0.29515	.	0.877204	0.09712	N	0.765518	.	.	.	.	.	.	0.09310	P	0.9999999999983548	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1006	0.36667	0.8143:0.1857:0.0:0.0	.	.	.	.	X	425;352	.	ENSP00000239587:R425X	R	+	1	2	TTLL2	167674651	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.319000	0.19522	0.545000	0.28902	0.402000	0.26972	AGA			0.423	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043127.3		NM_031949		T	167754661	A	T	167754661	4	4	9	1	0	0	0	0	0	1	0	0	16751	296	11	5	1283	5	TTLL2	6	167754661	Nonsense_Mutation	SNP	A	TCGA-2G-AAFI-01A-21D-A42Y-10	77477949	167754661	3360406	21	577											
SDK1	221935	broad.mit.edu	37	chr7	3681699	3681699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagacctcaagtgacttgGtttagagaagggcacaagat	13	8	11	9	0	1	4	1	1	0	3	1	5	1	4	2	2	0	2	2	2	4	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:3681699G>T	ENST00000404826.2	+	4	814	c.675G>T	c.(673-675)tgG>tgT	p.W225C	SDK1_ENST00000389531.3_Missense_Mutation_p.W225C|AC011284.3_ENST00000427920.1_RNA	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	225	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		AAGTGACTTGGTTTAGAGAAG	0.448																																					p.W225C													SDK1,bladder,carcinoma,+1,1	SDK1	361	1	0			c.G675T												104	93	97					7																	3681699		2203	4300	6503	SO:0001583	missense	221935	exon4			GACTTGGTTTAGA	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.675G>T	7.37:g.3681699G>T	ENSP00000385899:p.Trp225Cys		118	0	0		130	0.04	5	NM_152744	3	0	0	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533293	0.85812	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	D;D	0.96300	-3.97;-3.97	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000811	D	0.98969	0.9649	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99360	1.0917	10	0.87932	D	0	.	18.0799	0.89439	0.0:0.0:1.0:0.0	.	225	Q7Z5N4	SDK1_HUMAN	C	225	ENSP00000385899:W225C;ENSP00000374182:W225C	ENSP00000374182:W225C	W	+	3	0	SDK1	3648225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.670000	0.91168	2.703000	0.92315	0.650000	0.86243	TGG			0.448	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323702.1		NM_152744		T	3681699	G	T	3681699	3	4	9	1	0	0	0	0	1	0	0	0	13991	1270	44	3	689	3	SDK1	7	3681699	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		3681699	155456964	22	578											
SP8	221833	broad.mit.edu;mdanderson.org	37	chr7	20824970	20824970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgccgccgccgcCgctgcccccggaaactccgg	3	2	12	24	8	0	0	0	0	0	0	1	1	1	1	10	2	2	1	10	2	1	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:20824970C>T	ENST00000361443.4	-	3	649	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	SP8_ENST00000418710.2_Missense_Mutation_p.G156S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	138					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ccgccgccgccgctgcccccg	0.761																																					p.G156S													.	SP8	43		0			c.G466A																																									SO:0001583	missense	221833	exon2			CGCCGCCGCTGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.412G>A	7.37:g.20824970C>T	ENSP00000354482:p.Gly138Ser		46	0	0		59	0.07	4	NM_182700	2	0	0	Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435495	0.12045	.	.	ENSG00000164651	ENST00000418710;ENST00000361443	D;D	0.81821	-1.54;-1.54	3.09	2.16	0.27623	.	0.366549	0.17990	U	0.155235	T	0.58308	0.2113	N	0.08118	0	0.31008	N	0.719562	D;D	0.55605	0.972;0.972	B;B	0.41860	0.368;0.368	T	0.60005	-0.7347	10	0.08837	T	0.75	.	10.7467	0.46185	0.1919:0.8081:0.0:0.0	.	138;138	Q7Z615;Q8IXZ3	.;SP8_HUMAN	S	156;138	ENSP00000408792:G156S;ENSP00000354482:G138S	ENSP00000354482:G138S	G	-	1	0	SP8	20791495	.	.	0.969000	0.41365	0.291000	0.27294	.	.	0.455000	0.26910	0.306000	0.20318	GGC			0.761	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000326904.2				T	20824970	C	T	20824970	3	4	9	1	0	0	0	0	1	0	0	0	14993	652	23	1	1064	1	SP8	7	20824970	Missense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10	17143271	20824970	138313693	23	579											
DNAH11	8701	mdanderson.org	37	chr7	21745108	21745108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggaactgttggctgtgCggcactcggtctttgtagtt	5	15	14	7	2	1	1	0	1	1	0	2	2	1	2	0	4	2	5	0	4	2	5			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:21745108C>T	ENST00000409508.3	+	39	6530	c.6499C>T	c.(6499-6501)Cgg>Tgg	p.R2167W	DNAH11_ENST00000328843.6_Missense_Mutation_p.R2174W	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2174	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTGGCTGTGCGGCACTCGGT	0.423									Kartagener syndrome																												.													DNAH11,NS,carcinoma,-1,1	DNAH11	-1	1	0			.												90	93	92					7																	21745108		1937	4152	6089	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCTGTGCGGCACT	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6499C>T	7.37:g.21745108C>T	ENSP00000475939:p.Arg2167Trp		138	0	0		130	0.04	5	.	0		0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	16.00	2.999389	0.54147	.	.	ENSG00000105877	ENST00000328843	T	0.44881	0.91	5.62	2.76	0.32466	ATPase, AAA+ type, core (1);	0.058338	0.64402	D	0.000004	T	0.31796	0.0808	.	.	.	0.52501	D	0.999954	B	0.25390	0.125	B	0.18871	0.023	T	0.11299	-1.0593	9	0.87932	D	0	.	7.7447	0.28862	0.2331:0.6396:0.0:0.1273	.	2174	Q96DT5	DYH11_HUMAN	W	2174	ENSP00000330671:R2174W	ENSP00000330671:R2174W	R	+	1	2	DNAH11	21711633	0.064000	0.20934	0.186000	0.23195	0.718000	0.41266	0.444000	0.21661	0.370000	0.24538	-0.143000	0.13931	CGG			0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000326582.6		NM_003777		T	21745108	C	T	21745108	3	4	9	1	0	0	0	0	1	0	0	0	4604	759	27	1	6675	1	DNAH11	7	21745108	Missense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10	920138	21745108	137393555	24	580											
DNAH11	8701	mdanderson.org	37	chr7	21924014	21924014	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtatttagaagaattcAtgaatccatctctggtaaga	13	13	10	5	0	2	4	1	1	1	3	4	4	3	4	1	2	0	2	1	2	6	5	rs6461613	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:21924014A>T	ENST00000409508.3	+	76	12524	c.12493A>T	c.(12493-12495)Atg>Ttg	p.M4165L	DNAH11_ENST00000328843.6_Missense_Mutation_p.M4172L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4172					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGAATTCATGAATCCATC	0.348									Kartagener syndrome																												.													.	.			0			.												74	72	73					7																	21924014		1993	4217	6210	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GAATTCATGAATC	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12493A>T	7.37:g.21924014A>T	ENSP00000475939:p.Met4165Leu		114	0	0		95	0.02	2	.	0		0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	11.07	1.529461	0.27387	.	.	ENSG00000105877	ENST00000328843	T	0.07688	3.17	5.7	5.7	0.88788	Dynein heavy chain (1);	0.036259	0.85682	D	0.000000	T	0.06826	0.0174	.	.	.	0.21184	P	0.999764571	P	0.35684	0.515	B	0.38225	0.268	T	0.38178	-0.9673	8	0.12766	T	0.61	.	12.3835	0.55320	0.8597:0.1403:0.0:0.0	.	4172	Q96DT5	DYH11_HUMAN	L	4172	ENSP00000330671:M4172L	ENSP00000330671:M4172L	M	+	1	0	DNAH11	21890539	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.699000	0.54778	2.161000	0.67846	0.528000	0.53228	ATG			0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000326582.6		NM_003777		T	21924014	A	T	21924014	3	4	9	1	0	0	0	0	1	0	0	0	4604	217	8	5	12817	5	DNAH11	7	21924014	Missense_Mutation	SNP	A	TCGA-2G-AAFI-01A-21D-A42Y-10	178906	21924014	137214649	25	581											
BBS9	27241	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	33407379	33407380	+	Splice_Site	INS	-	-	T																															ttctctcttttctttgtaggINSttttgccagtcagtcagatg																										TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:33407379_33407380insT	ENST00000242067.6	+	17	2215_2216	c.1694_1695insT	c.(1693-1698)ggtttt>ggTtttt	p.GF565fs	BBS9_ENST00000354265.4_Splice_Site_p.GF530fs|BBS9_ENST00000396127.2_Splice_Site_p.GF530fs|BBS9_ENST00000355070.2_Splice_Site_p.GF560fs|BBS9_ENST00000350941.3_Splice_Site_p.GF525fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	565					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTTTGTAGGTTTTGCCAGTC	0.376									Bardet-Biedl syndrome																												p.G565fs													.	BBS9	194		0			c.1694_1695insT																																									SO:0001630	splice_region_variant	27241	exon17	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	TTGTAGGTTTTGC		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1694-1->T	7.37:g.33407383_33407383dupT			133	0	0		116	0.34	39	NM_198428	20	0	0	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Frame_Shift_Ins	INS	ENST00000242067.6	37	CCDS43566.1																																																																																					0.376	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000329064.1			Frame_Shift_Ins	T	33407380	-	T	33407379	8	5	9	1	0	1	1	0	0	0	1	0	1342	1275	44	0	1756	0	BBS9	7	33407379	Splice_Site	INS	-	TCGA-2G-AAFI-01A-21D-A42Y-10	11483365	33407379	125731284	26	582											
PON1	5444	broad.mit.edu	37	chr7	94944672	94944672	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcccatgagggttaaatGaagatacatcaaatttactt	16	13	6	6	0	1	3	1	2	0	1	2	3	2	3	1	1	2	1	1	1	7	6			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:94944672G>T	ENST00000222381.3	-	4	563	c.332C>A	c.(331-333)tCa>tAa	p.S111*	PON1_ENST00000542556.1_Nonsense_Mutation_p.S111*	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	111					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	AGGGTTAAATGAAGATACATC	0.343																																					p.S111X	GBM(119;715 1622 17358 22490 33240)												PON1,NS,carcinoma,0,1	PON1	55	1	0			c.C332A												110	104	106					7																	94944672		2203	4300	6503	SO:0001587	stop_gained	5444	exon4			TTAAATGAAGATA	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.332C>A	7.37:g.94944672G>T	ENSP00000222381:p.Ser111*		180	0.0055555556	1		272	0.02	5	NM_000446	0		0	B2RA40|Q16052|Q6B0J6|Q9UCB1	Nonsense_Mutation	SNP	ENST00000222381.3	37	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416545	0.96092	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	.	.	.	5.06	5.06	0.68205	.	0.125924	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0561	19.0004	0.92830	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000222381:S111X	S	-	2	0	PON1	94782608	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	8.975000	0.93437	2.804000	0.96469	0.650000	0.86243	TCA			0.343	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000332865.2		NM_000446		T	94944672	G	T	94944672	4	4	9	1	0	0	0	0	0	1	0	0	12265	1294	45	3	759	3	PON1	7	94944672	Nonsense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	61537293	94944672	64193991	27	583											
ZAN	7455	broad.mit.edu	37	chr7	100349865	100349865	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaaaaacccaccatcTccccagaaaaacccaccatc	17	3	2	19	0	1	2	0	0	1	2	3	2	1	2	7	0	2	0	7	0	4	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:100349865T>C	ENST00000348028.3	+	0	2302				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_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)			ACCCACCATCTCCCCAGAAAA	0.502																																					.													.	ZAN	658		0			.												169	188	183					7																	100349865		1832	4081	5913			7455	.			ACCATCTCCCCAG	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.100349865T>C			111	0.045045045	5		221	0.07	15	.	3	0	0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	t	6.727	0.502929	0.12822	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63255	-0.03;-0.03;-0.03	3.09	-4.12	0.03916	.	.	.	.	.	T	0.23766	0.0575	N	0.00771	-1.2	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13255	-1.0516	9	0.33940	T	0.23	.	4.1454	0.10214	0.2418:0.2807:0.0:0.4775	.	713;713	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	713	ENSP00000445943:S713P;ENSP00000445091:S713P;ENSP00000444427:S713P	ENSP00000423579:S713P	S	+	1	0	ZAN	100187801	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.082000	0.00613	-1.056000	0.03205	-1.117000	0.02048	TCC			0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000347214.1		NM_003386		C	100349865	T	C	100349865	1	2	9	0	1	0	0	0	0	0	0	0	17537	1551	54	4		4	ZAN	7	100349865	RNA	SNP	T	TCGA-2G-AAFI-01A-21D-A42Y-10	5405193	100349865	58788798	28	584											
MUC17	140453	broad.mit.edu	37	chr7	100686191	100686191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgatgagtccttctgagGccagcacactttcaacacct	9	11	8	13	0	2	3	1	3	1	0	3	3	3	3	3	1	2	1	3	1	1	2			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:100686191G>T	ENST00000306151.4	+	3	11558	c.11494G>T	c.(11494-11496)Gcc>Tcc	p.A3832S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3832	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)					TCCTTCTGAGGCCAGCACACT	0.488																																					p.A3832S													.	MUC17	804		0			c.G11494T												103	92	95					7																	100686191		2203	4300	6503	SO:0001583	missense	140453	exon3			TCTGAGGCCAGCA	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.11494G>T	7.37:g.100686191G>T	ENSP00000302716:p.Ala3832Ser		82	0	0		152	0.03	4	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259248	0.23051	.	.	ENSG00000169876	ENST00000306151	T	0.02121	4.44	1.31	-2.61	0.06171	.	.	.	.	.	T	0.01870	0.0059	N	0.19112	0.55	0.09310	N	1	D	0.55385	0.971	P	0.52909	0.713	T	0.19353	-1.0308	9	0.07325	T	0.83	.	1.5269	0.02527	0.4489:0.0:0.2475:0.3036	.	3832	Q685J3	MUC17_HUMAN	S	3832	ENSP00000302716:A3832S	ENSP00000302716:A3832S	A	+	1	0	MUC17	100472911	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-2.561000	0.00921	-1.110000	0.02992	0.187000	0.17357	GCC			0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		T	100686191	G	T	100686191	3	4	9	1	0	0	0	0	1	0	0	0	9990	1203	42	2	11504	2	MUC17	7	100686191	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	336326	100686191	58452472	29	585											
TRIM24	8805	broad.mit.edu	37	chr7	138239517	138239517	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgtggaacagaattcaCagccaccaagtggtttatca	12	10	9	10	1	2	1	2	0	0	1	3	2	2	2	2	2	2	1	2	2	4	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:138239517C>T	ENST00000343526.4	+	9	1551	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	TRIM24_ENST00000415680.2_Nonsense_Mutation_p.Q446*|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	446					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						ACAGAATTCACAGCCACCAAG	0.433																																					p.Q446X	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												.	TRIM24	131		0			c.C1336T												108	108	108					7																	138239517		2203	4300	6503	SO:0001587	stop_gained	8805	exon9			AATTCACAGCCAC	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.1336C>T	7.37:g.138239517C>T	ENSP00000340507:p.Gln446*		384	0.0026041667	1		641	0.01	5	NM_003852	88	0	0	A4D1R7|A4D1R8|O95854	Nonsense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	41	8.610022	0.98884	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	.	.	.	5.43	5.43	0.79202	.	0.146525	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-11.6646	18.8417	0.92186	0.0:1.0:0.0:0.0	.	.	.	.	X	446;357;446;404	.	ENSP00000340507:Q446X	Q	+	1	0	TRIM24	137890057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.311000	0.65786	2.544000	0.85801	0.557000	0.71058	CAG			0.433	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341814.1		NM_015905		T	138239517	C	T	138239517	4	4	9	1	0	0	0	0	0	1	0	0	16522	479	17	3	1370	3	TRIM24	7	138239517	Nonsense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10	37553326	138239517	20899146	30	586											
YWHAZ	7534	mdanderson.org	37	chr8	101960892	101960892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtattctcgagccatctgctGttttttctcagcaccttccg	5	16	7	13	2	3	0	1	0	3	0	6	1	4	0	3	0	3	4	3	0	1	6			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr8:101960892G>T	ENST00000395957.2	-	3	567	c.226C>A	c.(226-228)Cag>Aag	p.Q76K	YWHAZ_ENST00000395953.2_Missense_Mutation_p.Q76K|YWHAZ_ENST00000457309.1_Missense_Mutation_p.Q76K|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000395958.2_Missense_Mutation_p.Q76K|YWHAZ_ENST00000395956.3_Missense_Mutation_p.Q76K|YWHAZ_ENST00000522542.1_5'Flank|YWHAZ_ENST00000419477.2_Missense_Mutation_p.Q76K|YWHAZ_ENST00000395951.3_Missense_Mutation_p.Q76K|YWHAZ_ENST00000353245.3_Missense_Mutation_p.Q76K|YWHAZ_ENST00000395948.2_5'UTR			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	76					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			GCCATCTGCTGTTTTTTCTCA	0.418																																					p.Q76K													.	.			0			c.C226A												195	203	200					8																	101960892		2203	4297	6500	SO:0001583	missense	7534	exon2			TCTGCTGTTTTTT	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"14-3-3 zeta", "14-3-3 delta"	601288	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.226C>A	8.37:g.101960892G>T	ENSP00000379287:p.Gln76Lys		40	0.025	1		52	0.06	3	NM_001135699	2114	0	3	A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	ENST00000395957.2	37	CCDS6290.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132271	0.37630	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000395953;ENST00000395951;ENST00000419477;ENST00000521607;ENST00000521328;ENST00000418997;ENST00000437293	T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.68	5.68	0.88126	14-3-3 domain (4);	0.000000	0.64402	D	0.000003	T	0.39489	0.1080	L	0.38531	1.155	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.16837	-1.0389	10	0.72032	D	0.01	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	76;76	D0PNI1;P63104	.;1433Z_HUMAN	K	76	ENSP00000379287:Q76K;ENSP00000398599:Q76K;ENSP00000379288:Q76K;ENSP00000379286:Q76K;ENSP00000309503:Q76K;ENSP00000379283:Q76K;ENSP00000379281:Q76K;ENSP00000395114:Q76K;ENSP00000430058:Q76K;ENSP00000429041:Q76K;ENSP00000416551:Q76K;ENSP00000394880:Q76K	ENSP00000309503:Q76K	Q	-	1	0	YWHAZ	102030068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.565000	0.67365	2.689000	0.91719	0.655000	0.94253	CAG			0.418	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259017.2		NM_145690		T	101960892	G	T	101960892	3	4	9	1	0	0	0	0	1	0	0	0	17530	1386	48	3	531	3	YWHAZ	8	101960892	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		101960892	44403130	31	587											
RGS3	5998	broad.mit.edu	37	chr9	116303614	116303614	+	Intron	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccacagaaactccaccctttCggctctctccagcaggagat	10	8	7	16	1	1	2	0	0	1	2	5	3	3	2	4	2	2	2	4	2	1	1	rs201201135		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr9:116303614C>G	ENST00000374140.2	+	20	2246				RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374136.1_Missense_Mutation_p.F310L|RGS3_ENST00000317613.6_Missense_Mutation_p.F572L|RGS3_ENST00000462143.1_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACCCTTTCGGCTCTCTCC	0.552																																					p.F572L													.	RGS3	251		0			c.C1716G												219	236	230					9																	116303614		2203	4300	6503	SO:0001627	intron_variant	5998	exon18			CCCTTTCGGCTCT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2037+4416C>G	9.37:g.116303614C>G			88	0	0		90	0.04	4	NM_017790	0		0	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	9.293	1.050995	0.19827	.	.	ENSG00000138835	ENST00000317613;ENST00000374136	T	0.33865	1.39	5.51	2.5	0.30297	.	.	.	.	.	T	0.18383	0.0441	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04128	-1.0975	9	0.62326	D	0.03	.	7.8377	0.29380	0.0:0.7426:0.0:0.2574	.	310;572	Q5VXC0;P49796-5	.;.	L	572;310	ENSP00000312844:F572L	ENSP00000312844:F572L	F	+	3	2	RGS3	115343435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.426000	0.21363	0.210000	0.20664	0.655000	0.94253	TTC			0.552	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055561.3		NM_017790		G	116303614	C	G	116303614	1	3	9	0	1	0	0	0	0	0	0	0	13329	883	31	5		5	RGS3	9	116303614	Intron	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10		116303614	24909817	32	588											
RTKN2	219790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	63957724	63957724	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtctttgatggatttctgCcttggagctggcactggctt	5	16	12	8	0	2	1	0	1	2	0	2	3	2	3	1	4	2	3	1	4	0	4			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:63957724C>T	ENST00000373789.3	-	12	1869	c.1773G>A	c.(1771-1773)agG>agA	p.R591R	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	591					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGGATTTCTGCCTTGGAGCTG	0.413																																					p.R591R													.	.			0			c.G1773A												67	65	66					10																	63957724		2203	4300	6503	SO:0001819	synonymous_variant	219790	exon12			TTTCTGCCTTGGA	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1773G>A	10.37:g.63957724C>T			154	0	0		165	0.41	67	NM_145307	5	0.6	3	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																					0.413	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000091618.1		NM_145307		T	63957724	C	T	63957724	2	4	9	1	0	0	0	0	0	0	0	1	13746	738	26	2		2	RTKN2	10	63957724	Silent	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10		63957724	71577023	33	589											
MYPN	84665	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	69881408	69881408	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctttctgagccaagaagaAttagacgaaagtgtcaattt	14	11	9	7	1	2	4	1	1	1	3	2	5	2	4	2	0	1	0	2	0	6	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:69881408A>G	ENST00000358913.5	+	2	701	c.213A>G	c.(211-213)gaA>gaG	p.E71E	MYPN_ENST00000373675.3_Silent_p.E71E|MYPN_ENST00000540630.1_Silent_p.E71E|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	71	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCAAGAAGAATTAGACGAAA	0.498																																					p.E71E													MYPN,NS,carcinoma,+2,1	MYPN	2	1	0			c.A213G												53	53	53					10																	69881408		2203	4300	6503	SO:0001819	synonymous_variant	84665	exon2			AGAAGAATTAGAC	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.213A>G	10.37:g.69881408A>G			179	0	0		149	0.05	8	NM_032578	0		0	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	CCDS7275.1																																																																																					0.498	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048307.1		NM_032578		G	69881408	A	G	69881408	2	3	9	1	0	0	0	0	0	0	0	1	10114	98	4	4		4	MYPN	10	69881408	Silent	SNP	A	TCGA-2G-AAFI-01A-21D-A42Y-10	5923684	69881408	65653339	34	590											
LRRC20	55222	mdanderson.org	37	chr10	72061201	72061201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcacctcggcgttgagtGggttgaagcggaggttgatg	6	9	18	8	5	0	3	0	3	0	0	1	4	0	4	1	4	1	4	1	4	1	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:72061201G>T	ENST00000355790.4	-	5	941	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	LRRC20_ENST00000373224.1_Missense_Mutation_p.P155Q|LRRC20_ENST00000395011.1_Missense_Mutation_p.P105Q|LRRC20_ENST00000395010.1_Missense_Mutation_p.P99Q|LRRC20_ENST00000358141.2_Missense_Mutation_p.P105Q	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	155										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GGCGTTGAGTGGGTTGAAGCG	0.612																																					p.P155Q													.	.			0			c.C464A												112	107	109					10																	72061201		2203	4300	6503	SO:0001583	missense	55222	exon5			TTGAGTGGGTTGA	BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.464C>A	10.37:g.72061201G>T	ENSP00000348043:p.Pro155Gln		66	0	0		61	0.05	3	NM_207119	5	0	0	Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	ENST00000355790.4	37	CCDS7302.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432310	0.83776	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395011;ENST00000395010;ENST00000358141;ENST00000357631;ENST00000446961	T;T;T;T;T;T;T	0.56611	0.45;0.45;1.6;0.76;1.6;0.76;0.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	N	0.21373	0.66	0.44745	D	0.99774	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.56378	-0.7989	10	0.33940	T	0.23	-35.2018	15.0009	0.71469	0.0:0.0:1.0:0.0	.	105;99;155	Q8TCA0-2;Q8TCA0-3;Q8TCA0	.;.;LRC20_HUMAN	Q	155;155;105;99;105;99;155	ENSP00000362321:P155Q;ENSP00000348043:P155Q;ENSP00000378458:P105Q;ENSP00000378457:P99Q;ENSP00000350860:P105Q;ENSP00000350255:P99Q;ENSP00000413745:P155Q	ENSP00000348043:P155Q	P	-	2	0	LRRC20	71731207	1.000000	0.71417	0.968000	0.41197	0.934000	0.57294	5.008000	0.63991	2.620000	0.88729	0.655000	0.94253	CCA			0.612	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048510.1		NM_018239		T	72061201	G	T	72061201	3	4	9	1	0	0	0	0	1	0	0	0	8993	1348	47	3	94	3	LRRC20	10	72061201	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	2179793	72061201	63473546	35	591											
ZNF503	84858	mdanderson.org	37	chr10	77159117	77159117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcgctggcggccgccGcccctgccaggtggctagcg	6	4	16	15	5	0	1	0	0	0	1	0	1	0	1	5	4	3	2	5	4	3	1			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:77159117G>T	ENST00000372524.4	-	2	1817	c.1331C>A	c.(1330-1332)gCg>gAg	p.A444E	ZNF503_ENST00000535216.1_Missense_Mutation_p.A444E|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	444	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)					GGCGGCCGCCGCCCCTGCCAG	0.687																																					p.A444E													.	.			0			c.C1331A												7	9	9					10																	77159117		2079	4103	6182	SO:0001583	missense	84858	exon2			GCCGCCGCCCCTG	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.1331C>A	10.37:g.77159117G>T	ENSP00000361602:p.Ala444Glu		26	0	0		14	0.14	2	NM_032772	6	0	0	Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095588	0.76870	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.46451	0.87;0.87	4.12	4.12	0.48240	.	0.000000	0.45361	D	0.000365	T	0.56673	0.2001	L	0.46157	1.445	0.58432	D	0.999996	D	0.76494	0.999	D	0.79108	0.992	T	0.58825	-0.7568	10	0.54805	T	0.06	-14.681	15.0887	0.72177	0.0:0.0:1.0:0.0	.	444	Q96F45	ZN503_HUMAN	E	444;444;407	ENSP00000361602:A444E;ENSP00000438988:A444E	ENSP00000361594:A407E	A	-	2	0	ZNF503	76829123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.670000	0.68088	2.285000	0.76669	0.542000	0.68232	GCG			0.687	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048826.1		NM_032772		T	77159117	G	T	77159117	3	4	9	1	0	0	0	0	1	0	0	0	17974	1087	38	1	613	1	ZNF503	10	77159117	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	5097916	77159117	58375630	36	592											
CNNM1	26507	mdanderson.org	37	chr10	101089397	101089397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaccgccggccaccgccGcaccggtgccctcaccgacc	6	2	11	22	6	1	0	1	0	0	0	1	2	1	1	9	3	1	1	9	3	0	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:101089397G>T	ENST00000356713.4	+	1	542	c.253G>T	c.(253-255)Gca>Tca	p.A85S	CNNM1_ENST00000370534.4_5'Flank|CNNM1_ENST00000370528.3_Intron|CNNM1_ENST00000446890.1_Intron	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	85					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)		GGCCACCGCCGCACCGGTGCC	0.731																																					p.A85S													.	.			0			c.G253T												10	11	10					10																	101089397		1427	3310	4737	SO:0001583	missense	26507	exon1			ACCGCCGCACCGG	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.253G>T	10.37:g.101089397G>T	ENSP00000349147:p.Ala85Ser		14	0	0		13	0.23	3	NM_020348	0		0	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	g	1.183	-0.637481	0.03557	.	.	ENSG00000119946	ENST00000356713	D	0.81996	-1.56	3.7	3.7	0.42460	.	.	.	.	.	T	0.64238	0.2580	N	0.08118	0	0.80722	D	1	B;B	0.24426	0.063;0.103	B;B	0.29716	0.106;0.049	T	0.56974	-0.7890	9	0.10636	T	0.68	.	8.4237	0.32716	0.1113:0.0:0.8887:0.0	.	85;85	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	S	85	ENSP00000349147:A85S	ENSP00000349147:A85S	A	+	1	0	CNNM1	101079387	0.056000	0.20664	0.066000	0.19879	0.013000	0.08279	0.000000	0.12993	1.923000	0.55706	0.450000	0.29827	GCA			0.731	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049792.2		NM_020348		T	101089397	G	T	101089397	3	4	9	1	0	0	0	0	1	0	0	0	3614	1087	38	1	255	1	CNNM1	10	101089397	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	23930280	101089397	34445350	37	593											
KNDC1	85442	mdanderson.org	37	chr10	135012338	135012338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccagagggggcctcatcgGcagctcccggctctccagtc	6	6	13	16	2	2	1	1	0	1	1	6	1	3	1	4	4	2	3	4	4	0	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:135012338G>T	ENST00000304613.3	+	14	2347	c.2326G>T	c.(2326-2328)Gca>Tca	p.A776S	KNDC1_ENST00000368572.2_Missense_Mutation_p.A776S|KNDC1_ENST00000368571.2_Missense_Mutation_p.A711S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	776	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCTCATCGGCAGCTCCCGG	0.716																																					p.A776S													.	.			0			c.G2326T												5	7	7					10																	135012338		2006	4048	6054	SO:0001583	missense	85442	exon14			TCATCGGCAGCTC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2326G>T	10.37:g.135012338G>T	ENSP00000304437:p.Ala776Ser		18	0	0		12	0.17	2	NM_152643	4	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	2.591	-0.295114	0.05532	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.18016	2.74;2.74;2.24	3.97	2.02	0.26589	.	2.008130	0.04408	U	0.365511	T	0.15046	0.0363	L	0.38175	1.15	0.09310	N	1	B;B;B	0.27732	0.187;0.187;0.118	B;B;B	0.25140	0.058;0.039;0.017	T	0.29912	-0.9996	10	0.48119	T	0.1	-0.1711	5.6194	0.17450	0.1171:0.2015:0.6814:0.0	.	776;711;776	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	S	776;776;711	ENSP00000304437:A776S;ENSP00000357561:A776S;ENSP00000357560:A711S	ENSP00000304437:A776S	A	+	1	0	KNDC1	134862328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.033000	0.13754	0.243000	0.21327	0.306000	0.20318	GCA			0.716	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000277044.3		NM_152643		T	135012338	G	T	135012338	3	4	9	1	0	0	0	0	1	0	0	0	8441	1203	42	2	2380	2	KNDC1	10	135012338	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	33922941	135012338	522409	38	594											
MUC2	4583	mdanderson.org	37	chr11	1092960	1092960	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaccaccactacggtgacCccaaccccaacacccaccgg	12	2	5	22	2	0	1	0	1	0	0	0	1	0	1	9	2	3	0	9	2	3	1			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr11:1092960C>A	ENST00000441003.2	+	30	4806	c.4779C>A	c.(4777-4779)acC>acA	p.T1593T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ctacggtgaccccaaccccaa	0.637																																					p.T1593T													.	.			0			c.C4779A																																									SO:0001819	synonymous_variant	4583	exon30			GGTGACCCCAACC	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.4779C>A	11.37:g.1092960C>A			26	0.0384615385	1		21	0.19	4	NM_002457	0		0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		A	1092960	C	A	1092960	2	1	9	1	0	0	0	0	0	0	0	1	9991	610	22	3		3	MUC2	11	1092960	Silent	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10		1092960	133913556	39	595											
TENC1	23371	mdanderson.org	37	chr12	53442956	53442956	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggagtatgtgttgggaGgggggacctcctgtccagtc	5	10	19	7	0	0	0	0	0	0	0	3	3	2	3	3	6	0	2	3	6	1	2	rs12369033	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr12:53442956G>T	ENST00000314250.6	+	0	0				RP11-983P16.4_ENST00000552905.1_RNA|TENC1_ENST00000314276.3_Missense_Mutation_p.R10M|TENC1_ENST00000552570.1_5'Flank|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Intron|RP11-983P16.4_ENST00000546566.1_RNA|TENC1_ENST00000451358.1_5'Flank|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000549700.1_5'Flank|TENC1_ENST00000546602.1_5'Flank	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGTGTTGGGAGGGGGGACCTC	0.637																																					p.R10M													.	.			0			c.G29T												53	58	56					12																	53442956		2203	4300	6503	SO:0001631	upstream_gene_variant	23371	exon1			TTGGGAGGGGGGA	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730		12.37:g.53442956G>T	Exception_encountered		49	0	0		109	0.03	3	NM_015319	0		0	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202071	0.22121	.	.	ENSG00000111077	ENST00000314276	D	0.94537	-3.45	3.64	2.75	0.32379	.	1.467820	0.05017	N	0.471991	D	0.93054	0.7789	.	.	.	0.80722	D	1	P	0.41848	0.763	B	0.43360	0.417	D	0.87069	0.2158	9	0.62326	D	0.03	.	6.9137	0.24347	0.125:0.0:0.875:0.0	.	10	Q63HR2-4	.	M	10	ENSP00000319756:R10M	ENSP00000319756:R10M	R	+	2	0	TENC1	51729223	0.999000	0.42202	0.996000	0.52242	0.056000	0.15407	1.397000	0.34543	1.118000	0.41863	0.561000	0.74099	AGG			0.637	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405779.1		NM_170754		T	53442956	G	T	53442956	1	4	9	0	1	0	0	0	0	0	0	0	15781	1000	35	3		3	TENC1	12	53442956	5'Flank	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		53442956	80408939	40	596											
KBTBD7	84078	mdanderson.org	37	chr13	41767097	41767097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtagatgtagccattgaGatatgccacatccatgccct	12	11	8	10	0	0	2	0	1	0	2	1	3	1	2	4	0	3	2	4	0	4	4			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr13:41767097G>T	ENST00000379483.3	-	1	1605	c.1297C>A	c.(1297-1299)Ctc>Atc	p.L433I		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	433										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)		TAGCCATTGAGATATGCCACA	0.483																																					p.L433I													.	.			0			c.C1297A												129	117	121					13																	41767097		2203	4300	6503	SO:0001583	missense	84078	exon1			CATTGAGATATGC	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.1297C>A	13.37:g.41767097G>T	ENSP00000368797:p.Leu433Ile		153	0.0065359477	1		140	0.04	6	NM_032138	19	0	0	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144132	0.37825	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.78707	-1.2	5.05	5.05	0.67936	Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000002	T	0.81607	0.4858	M	0.73753	2.245	0.51233	D	0.99991	B	0.29162	0.235	B	0.39068	0.289	T	0.81716	-0.0806	10	0.52906	T	0.07	.	15.9128	0.79485	0.0:0.0:1.0:0.0	.	433	Q8WVZ9	KBTB7_HUMAN	I	433;335	ENSP00000368797:L433I	ENSP00000368797:L433I	L	-	1	0	KBTBD7	40665097	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	6.728000	0.74769	2.328000	0.79073	0.557000	0.71058	CTC			0.483	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044660.1		NM_032138		T	41767097	G	T	41767097	3	4	9	1	0	0	0	0	1	0	0	0	8013	942	33	3	761	3	KBTBD7	13	41767097	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		41767097	73402781	41	597											
CRAMP1L	57585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1703072	1703072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accagaagccagtgcgcctgCctctgaaagtccctatagag	11	7	10	13	1	1	3	0	1	1	2	2	3	2	3	5	0	3	0	5	0	4	2			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr16:1703072C>A	ENST00000397412.3	+	8	1051	c.952C>A	c.(952-954)Cct>Act	p.P318T	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P315T|CRAMP1L_ENST00000262317.4_5'Flank|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P318T			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	318						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGTGCGCCTGCCTCTGAAAGT	0.557																																					p.P318T													.	.			0			c.C952A												28	33	31					16																	1703072		1945	4132	6077	SO:0001583	missense	57585	exon7			CGCCTGCCTCTGA	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.952C>A	16.37:g.1703072C>A	ENSP00000380559:p.Pro318Thr		83	0	0		100	0.14	14	NM_020825	6	0	0	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	c	17.96	3.516555	0.64634	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.14	5.14	0.70334	.	0.064020	0.64402	D	0.000006	T	0.69655	0.3135	M	0.67397	2.05	0.80722	D	1	B	0.27068	0.167	B	0.31337	0.128	T	0.71062	-0.4701	9	0.87932	D	0	-30.2257	18.9724	0.92721	0.0:1.0:0.0:0.0	.	318	Q96RY5	CRML_HUMAN	T	318;318;315	.	ENSP00000293925:P318T	P	+	1	0	CRAMP1L	1643073	1.000000	0.71417	0.996000	0.52242	0.654000	0.38779	7.588000	0.82629	2.565000	0.86533	0.651000	0.88453	CCT			0.557	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157297.4				A	1703072	C	A	1703072	3	1	9	1	0	0	0	0	1	0	0	0	3848	739	26	2	978	2	CRAMP1L	16	1703072	Missense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10		1703072	88651681	42	598											
ITGAL	3683	mdanderson.org	37	chr16	30510736	30510736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgggggttgttcccaggaGggagacatgaactcagaagg	11	6	17	7	1	1	3	1	1	0	2	2	6	2	4	1	5	1	2	1	5	2	2			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr16:30510736G>T	ENST00000356798.6	+	17	2251	c.2071G>T	c.(2071-2073)Ggg>Tgg	p.G691W	ITGAL_ENST00000433423.2_Missense_Mutation_p.G87W|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.G608W	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	691					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)	GTTCCCAGGAGGGAGACATGA	0.562																																					p.G691W	NSCLC(110;1462 1641 3311 33990 49495)												.	.			0			c.G2071T												133	125	128					16																	30510736		2197	4300	6497	SO:0001583	missense	3683	exon17			CCAGGAGGGAGAC		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.2071G>T	16.37:g.30510736G>T	ENSP00000349252:p.Gly691Trp		74	0	0		52	0.06	3	NM_002209	11	0	0	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467078	0.26335	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.48836	0.8;0.8;1.63	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.000000	0.56097	D	0.000023	T	0.67487	0.2898	M	0.76574	2.34	0.50632	D	0.999884	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.69815	-0.5043	10	0.72032	D	0.01	.	12.5499	0.56222	0.0:0.0:0.8339:0.1661	.	87;608;691	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	W	691;608;87	ENSP00000349252:G691W;ENSP00000350886:G608W;ENSP00000409377:G87W	ENSP00000349252:G691W	G	+	1	0	ITGAL	30418237	0.970000	0.33590	0.189000	0.23252	0.021000	0.10359	1.782000	0.38654	2.753000	0.94483	0.650000	0.86243	GGG			0.562	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434508.2				T	30510736	G	T	30510736	3	4	9	1	0	0	0	0	1	0	0	0	7901	1000	35	3	2137	3	ITGAL	16	30510736	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	28807664	30510736	59844017	43	599											
HEATR3	55027	mdanderson.org	37	chr16	50112705	50112705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagtcaagcagaaatcAtaaatgccttactaaagatc	18	8	7	8	0	2	3	2	0	0	3	3	3	2	3	1	0	3	2	1	0	8	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr16:50112705A>T	ENST00000299192.7	+	7	1008	c.817A>T	c.(817-819)Ata>Tta	p.I273L	HEATR3_ENST00000285767.4_Missense_Mutation_p.I187L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	273										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGCAGAAATCATAAATGCCTT	0.353																																					p.I273L													.	.			0			c.A817T												72	69	70					16																	50112705		2198	4300	6498	SO:0001583	missense	55027	exon7			GAAATCATAAATG	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.817A>T	16.37:g.50112705A>T	ENSP00000299192:p.Ile273Leu		84	0	0		57	0.05	3	NM_182922	41	0.02	1	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455322	0.26161	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.29917	1.55;1.55	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.142955	0.64402	D	0.000008	T	0.18551	0.0445	N	0.21194	0.64	0.41703	D	0.989415	B;P	0.38788	0.008;0.647	B;B	0.35470	0.009;0.203	T	0.08700	-1.0709	10	0.16896	T	0.51	.	10.9732	0.47450	0.9216:0.0:0.0784:0.0	.	187;273	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	L	187;273	ENSP00000285767:I187L;ENSP00000299192:I273L	ENSP00000285767:I187L	I	+	1	0	HEATR3	48670206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.204000	0.51082	2.315000	0.78130	0.519000	0.50382	ATA			0.353	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256880.2		NM_182922		T	50112705	A	T	50112705	3	4	9	1	0	0	0	0	1	0	0	0	7044	217	8	5	843	5	HEATR3	16	50112705	Missense_Mutation	SNP	A	TCGA-2G-AAFI-01A-21D-A42Y-10	19601969	50112705	40242048	44	600											
KRTAP1-1	81851	broad.mit.edu	37	chr17	39197304	39197304	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgggcggcaccacctgaTacgggtgctcacagctccac	7	7	12	15	2	2	1	1	1	1	0	3	1	3	1	3	3	3	3	3	3	1	1			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr17:39197304T>C	ENST00000306271.4	-	1	409	c.346A>G	c.(346-348)Atc>Gtc	p.I116V		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	116						keratin filament (GO:0045095)		p.I116V(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACCACCTGATACGGGTGCTC	0.662																																					p.I116V													KRTAP1-1,NS,malignant_melanoma,0,1	KRTAP1-1	23	1	1	Substitution - Missense(1)	NS(1)	c.A346G												22	27	25					17																	39197304		2019	4148	6167	SO:0001583	missense	81851	exon1			ACCTGATACGGGT	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.346A>G	17.37:g.39197304T>C	ENSP00000305975:p.Ile116Val		87	0	0		108	0.03	3	NM_030967	0		0	A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	8.173	0.792133	0.16258	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.29655	1.56	4.28	-1.23	0.09465	.	.	.	.	.	T	0.12135	0.0295	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.20046	T	0.44	.	9.4726	0.38851	0.0:0.573:0.0:0.427	.	116	Q07627	KRA11_HUMAN	V	116;106	ENSP00000305975:I116V	ENSP00000305975:I116V	I	-	1	0	KRTAP1-1	36450830	0.132000	0.22450	0.024000	0.17045	0.516000	0.34256	0.017000	0.13399	-0.199000	0.10317	0.529000	0.55759	ATC			0.662	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257696.1		NM_030967		C	39197304	T	C	39197304	3	2	9	1	0	0	0	0	1	0	0	0	8517	1406	49	4	191	4	KRTAP1-1	17	39197304	Missense_Mutation	SNP	T	TCGA-2G-AAFI-01A-21D-A42Y-10		39197304	41997906	45	601											
KRTAP9-9	81870	hgsc.bcm.edu	37	chr17	39411694	39411694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgctgcaggaccacctgctgGaagcccaccactgtgaccac	9	6	10	16	0	0	1	0	1	0	0	0	3	0	3	5	2	4	3	5	2	1	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr17:39411694G>C	ENST00000394008.1	+	1	59	c.57G>C	c.(55-57)tgG>tgC	p.W19C		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	24	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCTGGAAGCCCACCA	0.622																																					p.W19C													KRTAP9-9,NS,carcinoma,+2,1	KRTAP9-9	2	1	0			c.G57C																																									SO:0001583	missense	81870	exon1			CTGCTGGAAGCCC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.57G>C	17.37:g.39411694G>C	ENSP00000377576:p.Trp19Cys		68	0.0147058824	1		110	0.07	8	NM_030975	0		0	B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	0.100	-1.153249	0.01700	.	.	ENSG00000198083	ENST00000394008	T	0.00711	5.8	3.04	-5.55	0.02536	.	.	.	.	.	T	0.00210	0.0006	N	0.00152	-1.975	0.20196	N	0.999925	B	0.02656	0.0	B	0.04013	0.001	T	0.42865	-0.9426	9	0.02654	T	1	.	6.8781	0.24158	0.0:0.2867:0.1571:0.5562	.	24	Q9BYP9	KRA99_HUMAN	C	19	ENSP00000377576:W19C	ENSP00000377576:W19C	W	+	3	0	KRTAP9-9	36665220	0.000000	0.05858	0.005000	0.12908	0.435000	0.31806	-0.843000	0.04350	-1.036000	0.03287	0.456000	0.33151	TGG			0.622	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257710.1		NM_030975		C	39411694	G	C	39411694	3	2	9	1	0	0	0	0	1	0	0	0	8592	1183	41	5	59	5	KRTAP9-9	17	39411694	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	214390	39411694	41783516	46	602											
C17orf57	124989	broad.mit.edu	37	chr17	45455146	45455146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttagaaaacttctgtgaaGctatcagtaaacttcaagaa	17	12	6	6	0	3	3	2	1	1	2	3	3	3	3	0	0	3	2	0	0	9	6			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr17:45455146G>T	ENST00000331493.2	+	13	1798	c.1387G>T	c.(1387-1389)Gct>Tct	p.A463S	EFCAB13_ENST00000517484.1_Missense_Mutation_p.A367S	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	463						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTTCTGTGAAGCTATCAGTAA	0.294																																					p.A463S													.	.			0			c.G1387T												47	51	50					17																	45455146		2203	4295	6498	SO:0001583	missense	124989	exon13			TGTGAAGCTATCA	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1387G>T	17.37:g.45455146G>T	ENSP00000332111:p.Ala463Ser		348	0.0028735632	1		535	0.01	7	NM_152347	3	0	0	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809669	0.16537	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.66460	0.19;-0.21	3.8	-2.46	0.06461	.	1.499050	0.03911	N	0.281932	T	0.60261	0.2255	L	0.43152	1.355	0.09310	N	1	P;P;P	0.50819	0.793;0.939;0.939	B;P;P	0.50192	0.303;0.634;0.634	T	0.51601	-0.8685	10	0.36615	T	0.2	0.3747	0.4927	0.00566	0.3416:0.1775:0.3001:0.1807	.	415;463;367	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	S	463;367;415	ENSP00000332111:A463S;ENSP00000430048:A367S	ENSP00000332111:A463S	A	+	1	0	C17orf57	42810145	0.001000	0.12720	0.004000	0.12327	0.019000	0.09904	0.100000	0.15231	-0.187000	0.10516	0.460000	0.39030	GCT			0.294	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000380147.4		NM_152347		T	45455146	G	T	45455146	3	4	9	1	0	0	0	0	1	0	0	0	1867	971	34	2	1425	2	C17orf57	17	45455146	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	6043452	45455146	35740064	47	603											
MRC2	9902	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	60743604	60743604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactacggcaaagacgagCgctggggcttctgccccatc	9	6	13	13	3	1	1	0	0	1	1	2	3	1	2	2	4	3	3	2	4	2	2	rs541473425		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr17:60743604C>T	ENST00000303375.5	+	3	1072	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	224	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CAAAGACGAGCGCTGGGGCTT	0.657													C|||	1	0.000199681	0	0	5008	,	,		17547	0		0	False		,,,				2504	0.001				p.R224C													.	.			0			c.C670T												30	26	27					17																	60743604		2203	4298	6501	SO:0001583	missense	9902	exon3			GACGAGCGCTGGG	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.670C>T	17.37:g.60743604C>T	ENSP00000307513:p.Arg224Cys		53	0	0		58	0.17	10	NM_006039	49	0.33	16	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603655	0.87157	.	.	ENSG00000011028	ENST00000303375	T	0.51325	0.71	4.55	4.55	0.56014	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.334104	0.29009	N	0.013434	T	0.64182	0.2575	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.67639	-0.5619	10	0.87932	D	0	-28.9859	12.594	0.56459	0.1657:0.8343:0.0:0.0	.	224	Q9UBG0	MRC2_HUMAN	C	224	ENSP00000307513:R224C	ENSP00000307513:R224C	R	+	1	0	MRC2	58097336	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.685000	0.54678	2.368000	0.80403	0.561000	0.74099	CGC			0.657	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445152.1				T	60743604	C	T	60743604	3	4	9	1	0	0	0	0	1	0	0	0	9774	768	27	1	680	1	MRC2	17	60743604	Missense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10	15288458	60743604	20451606	48	604											
KLHL14	57565	mdanderson.org	37	chr18	30350531	30350531	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctggggtcgaaggtggaGgtcctgtccccggatctgga	5	9	18	9	2	1	0	0	0	1	0	4	4	3	3	3	8	0	1	3	8	1	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr18:30350531G>T	ENST00000359358.4	-	2	462	c.24C>A	c.(22-24)acC>acA	p.T8T	KLHL14_ENST00000358095.4_Silent_p.T8T|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	8						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						CGAAGGTGGAGGTCCTGTCCC	0.652																																					p.T8T													.	.			0			c.C24A												79	56	64					18																	30350531		2202	4300	6502	SO:0001819	synonymous_variant	57565	exon2			GGTGGAGGTCCTG	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.24C>A	18.37:g.30350531G>T			18	0	0		15	0.13	2	NM_020805	0		0	A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	CCDS32813.1																																																																																					0.652	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448376.1				T	30350531	G	T	30350531	2	4	9	1	0	0	0	0	0	0	0	1	8385	987	35	3		3	KLHL14	18	30350531	Silent	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		30350531	47726717	49	605											
PRAM1	84106	mdanderson.org	37	chr19	8563401	8563401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggctgggtctgaggcctgGcctggcccctccactgtgaa	5	9	14	13	0	1	2	0	2	1	0	2	2	2	2	5	5	0	1	5	5	1	0			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr19:8563401G>T	ENST00000423345.4	-	2	1811	c.1291C>A	c.(1291-1293)Cca>Aca	p.P431T	PRAM1_ENST00000255612.3_Missense_Mutation_p.P431T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	479	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGAGGCCTGGCCTGGCCCCT	0.746																																					p.P431T													.	.			0			c.C1291A												12	15	14					19																	8563401		1897	4072	5969	SO:0001583	missense	84106	exon2			GGCCTGGCCTGGC	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1291C>A	19.37:g.8563401G>T	ENSP00000408342:p.Pro431Thr		45	0	0		38	0.08	3	NM_032152	3	0	0	Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	10.12	1.264093	0.23136	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.13901	2.55;2.55	3.07	-0.559	0.11792	.	0.701602	0.11025	N	0.607924	T	0.09024	0.0223	L	0.38175	1.15	0.09310	N	1	B;B	0.24426	0.103;0.103	B;B	0.28011	0.058;0.085	T	0.41698	-0.9494	10	0.20519	T	0.43	.	3.3055	0.06998	0.3838:0.0:0.4322:0.184	.	431;479	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	T	431	ENSP00000255612:P431T;ENSP00000408342:P431T	ENSP00000255612:P431T	P	-	1	0	PRAM1	8469401	0.001000	0.12720	0.267000	0.24556	0.718000	0.41266	0.832000	0.27490	0.074000	0.16767	0.313000	0.20887	CCA			0.746	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397040.3		NM_032152		T	8563401	G	T	8563401	3	4	9	1	0	0	0	0	1	0	0	0	12443	1203	42	2	754	2	PRAM1	19	8563401	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		8563401	50565582	50	606											
SFRS16	11129	mdanderson.org	37	chr19	45556058	45556058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccacttcaggatgccctgGcagggggacaccaacaacat	11	6	10	14	0	1	0	1	0	0	0	2	2	2	2	3	4	3	1	3	4	2	1			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr19:45556058G>T	ENST00000221455.3	+	4	305	c.207G>T	c.(205-207)tgG>tgT	p.W69C	CLASRP_ENST00000544944.2_Missense_Mutation_p.W69C|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	69					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGATGCCCTGGCAGGGGGACA	0.587																																					p.W69C													.	.			0			c.G207T												134	102	113					19																	45556058		2203	4300	6503	SO:0001583	missense	11129	exon4			GCCCTGGCAGGGG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.207G>T	19.37:g.45556058G>T	ENSP00000221455:p.Trp69Cys		77	0	0		70	0.06	4	NM_007056	95	0	0	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968265	0.74131	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000544944	T;T;T	0.49432	0.78;0.78;0.78	4.37	4.37	0.52481	Splicing factor, suppressor of white apricot (1);	0.000000	0.34156	U	0.004203	T	0.69504	0.3118	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74791	-0.3545	10	0.87932	D	0	-16.4257	14.8031	0.69929	0.0:0.0:1.0:0.0	.	69;69	F5H0Q6;Q8N2M8	.;CLASR_HUMAN	C	69	ENSP00000221455:W69C;ENSP00000375814:W69C;ENSP00000438702:W69C	ENSP00000221455:W69C	W	+	3	0	CLASRP	50247898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.090000	0.94144	2.431000	0.82371	0.591000	0.81541	TGG			0.587	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316749.1		NM_007056		T	45556058	G	T	45556058	3	4	9	1	0	0	0	0	1	0	0	0	14195	1212	42	2	217	2	SFRS16	19	45556058	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	36992657	45556058	13572925	51	607											
UBE2M	9040	broad.mit.edu	37	chr19	59067587	59067587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgttcagtgggtcctcggGgttgggctcctgtggccagt	2	13	16	10	1	1	0	1	0	0	0	4	0	3	0	3	5	0	3	3	5	0	3			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr19:59067587G>T	ENST00000253023.3	-	6	999	c.421C>A	c.(421-423)Ccc>Acc	p.P141T	CHMP2A_ENST00000312547.2_5'Flank|CHMP2A_ENST00000600118.1_5'Flank|CHMP2A_ENST00000601220.1_5'Flank|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	141					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		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)		GGGTCCTCGGGGTTGGGCTCC	0.617																																					p.P141T													.	UBE2M	14		0			c.C421A												64	68	66					19																	59067587		2203	4300	6503	SO:0001583	missense	9040	exon6			CCTCGGGGTTGGG	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"Ubiquitin-conjugating enzymes E2"	12491	protein-coding gene	gene with protein product		603173	"ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)", "ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.421C>A	19.37:g.59067587G>T	ENSP00000253023:p.Pro141Thr		153	0	0		187	0.03	5	NM_003969	580	0	0	O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861874	0.71949	.	.	ENSG00000130725	ENST00000253023	T	0.73575	-0.76	4.41	4.41	0.53225	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000006	T	0.80944	0.4721	M	0.89478	3.035	0.54753	D	0.999988	P	0.37500	0.597	B	0.42030	0.373	D	0.84652	0.0701	10	0.59425	D	0.04	-21.6429	14.9005	0.70675	0.0:0.0:1.0:0.0	.	141	P61081	UBC12_HUMAN	T	141	ENSP00000253023:P141T	ENSP00000253023:P141T	P	-	1	0	UBE2M	63759399	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.167000	0.71902	2.467000	0.83353	0.655000	0.94253	CCC			0.617	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467097.1		NM_003969		T	59067587	G	T	59067587	3	4	9	1	0	0	0	0	1	0	0	0	16889	1232	43	3	134	3	UBE2M	19	59067587	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	13511529	59067587	61396	52	608											
ADNP	23394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr20	49509508	49509508	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaggattattttgggcatgGtaagcaacagattcagctgg	11	11	14	5	0	1	1	1	0	0	1	1	3	1	3	0	5	3	4	0	5	3	5			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr20:49509508G>T	ENST00000396029.3	-	5	2310	c.1743C>A	c.(1741-1743)taC>taA	p.Y581*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.Y581*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.Y581*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.Y581*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	581					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						TTTGGGCATGGTAAGCAACAG	0.463																																					p.Y581X													.	.			0			c.C1743A												159	158	158					20																	49509508		2203	4300	6503	SO:0001587	stop_gained	23394	exon5			GGCATGGTAAGCA	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.1743C>A	20.37:g.49509508G>T	ENSP00000379346:p.Tyr581*		108	0	0		171	0.32	54	NM_015339	154	0.35	54	E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	40	8.352699	0.98774	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.75	-1.34	0.09143	.	0.160313	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9234	11.6394	0.51224	0.4704:0.0:0.5296:0.0	.	.	.	.	X	581	.	ENSP00000342905:Y581X	Y	-	3	2	ADNP	48942915	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	0.660000	0.25009	-0.091000	0.12440	-0.133000	0.14855	TAC			0.463	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079705.2		NM_181442		T	49509508	G	T	49509508	4	4	9	1	0	0	0	0	0	1	0	0	323	1256	44	3	1569	3	ADNP	20	49509508	Nonsense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		49509508	13516012	53	609											
ZNRF3	84133	mdanderson.org	37	chr22	29446468	29446468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccttcaccccgaccatttgCccaggacagatggggtgaaa	10	7	11	13	1	1	2	1	1	0	1	1	4	1	3	5	3	1	0	5	3	1	2			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr22:29446468C>T	ENST00000544604.2	+	8	2474	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S	ZNRF3_ENST00000406323.3_Missense_Mutation_p.P667S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.P667S|ZNRF3_ENST00000332811.4_Missense_Mutation_p.P667S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	767					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						CGACCATTTGCCCAGGACAGA	0.667																																					p.P767S													.	.			0			c.C2299T												15	16	16					22																	29446468		1895	4045	5940	SO:0001583	missense	84133	exon8			CATTTGCCCAGGA	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.2299C>T	22.37:g.29446468C>T	ENSP00000443824:p.Pro767Ser		53	0	0		51	0.06	3	NM_001206998	39	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742079	0.49151	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.33	2.02	0.26589	.	0.339870	0.34828	N	0.003656	T	0.81259	0.4785	L	0.50333	1.59	0.36602	D	0.874749	P	0.50443	0.935	P	0.50270	0.636	T	0.82486	-0.0433	10	0.52906	T	0.07	-17.7456	8.9676	0.35885	0.0:0.7323:0.1246:0.1432	.	767	Q9ULT6	ZNRF3_HUMAN	S	767;667;474;667;667	ENSP00000443824:P767S;ENSP00000328614:P667S;ENSP00000384456:P667S;ENSP00000384553:P667S	ENSP00000328614:P667S	P	+	1	0	ZNRF3	27776468	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	2.774000	0.47694	0.732000	0.32470	-0.150000	0.13652	CCC			0.667	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972		T	29446468	C	T	29446468	3	4	9	1	0	0	0	0	1	0	0	0	18236	739	26	2	2025	2	ZNRF3	22	29446468	Missense_Mutation	SNP	C	TCGA-2G-AAFI-01A-21D-A42Y-10		29446468	21858098	54	610											
ODF3B	440836	broad.mit.edu;mdanderson.org	37	chr22	50969176	50969176	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcgggccctggcttccGagtgttgtcttgggggagcg	2	9	19	11	4	1	0	0	0	1	0	2	2	2	1	3	5	1	2	3	5	0	3	rs371794773	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr22:50969176G>T	ENST00000428989.2	-	5	645	c.646C>A	c.(646-648)Cgg>Agg	p.R216R	ODF3B_ENST00000403326.1_Silent_p.R148R|TYMP_ENST00000395681.1_5'Flank|ODF3B_ENST00000401779.1_Nonsense_Mutation_p.S192*|TYMP_ENST00000395678.3_5'Flank|TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000329363.4_Silent_p.R216R|ODF3B_ENST00000405135.1_Nonsense_Mutation_p.S231*|TYMP_ENST00000252029.3_5'Flank			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	216										lung(2)	2						CCTGGCTTCCGAGTGTTGTCT	0.662																																					p.R216R													.	ODF3B	6		0			c.C646A												16	19	18					22																	50969176		1926	4109	6035	SO:0001819	synonymous_variant	440836	exon6			GCTTCCGAGTGTT		CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.646C>A	22.37:g.50969176G>T			85	0	0		92	0.04	4	NM_001014440	39	0	0	A0PK18	Nonsense_Mutation	SNP	ENST00000428989.2	37	CCDS43039.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975081	0.34848	.	.	ENSG00000177989	ENST00000401779;ENST00000405135	.	.	.	5.05	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.0292	3.919	0.09236	0.1028:0.4395:0.3124:0.1454	.	.	.	.	X	192;231	.	ENSP00000384310:S192X	S	-	2	0	ODF3B	49316042	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.476000	0.06591	-0.066000	0.12998	0.491000	0.48974	TCG			0.662	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317626.2				T	50969176	G	T	50969176	2	4	9	1	0	0	0	0	0	0	0	1	10847	1057	37	1		1	ODF3B	22	50969176	Silent	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	21522708	50969176	335390	55	611											
IGSF1	3547	broad.mit.edu	37	chrX	130412689	130412689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggaaagttggtctctGcccacagctcaggcttaggg	9	8	13	11	0	2	1	1	0	1	1	3	2	2	2	2	4	2	3	2	4	2	2			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chrX:130412689G>T	ENST00000361420.3	-	12	1866	c.1787C>A	c.(1786-1788)gCa>gAa	p.A596E	IGSF1_ENST00000370903.3_Missense_Mutation_p.A601E|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.A587E|IGSF1_ENST00000370904.1_Missense_Mutation_p.A587E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	596	Ig-like C2-type 6.				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						GTTGGTCTCTGCCCACAGCTC	0.542																																					p.A601E													.	IGSF1	231		0			c.C1802A												66	66	66					X																	130412689		2203	4297	6500	SO:0001583	missense	3547	exon12			GTCTCTGCCCACA	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.1787C>A	X.37:g.130412689G>T	ENSP00000355010:p.Ala596Glu		155	0	0		264	0.02	5	NM_001170961	40	0	0	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	g	15.82	2.946229	0.53079	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00892	5.57;5.57;5.57;5.57	5.09	4.21	0.49690	Immunoglobulin-like fold (1);	0.445048	0.21333	N	0.076275	T	0.04907	0.0132	M	0.82630	2.6	0.34986	D	0.754598	D;D;D	0.76494	0.994;0.999;0.999	D;D;D	0.83275	0.945;0.99;0.996	T	0.03231	-1.1058	10	0.87932	D	0	.	7.7911	0.29121	0.1145:0.0:0.8855:0.0	.	587;40;596	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	E	587;596;587;601	ENSP00000359947:A587E;ENSP00000355010:A596E;ENSP00000359941:A587E;ENSP00000359940:A601E	ENSP00000355010:A596E	A	-	2	0	IGSF1	130240370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.339000	0.59322	2.262000	0.75019	0.597000	0.82753	GCA			0.542	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000058288.1				T	130412689	G	T	130412689	3	4	9	1	0	0	0	0	1	0	0	0	7611	1319	46	2	2259	2	IGSF1	23	130412689	Missense_Mutation	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10		130412689	24857871	56	612											
ARHGAP4	393	mdanderson.org	37	chrX	153174574	153174574	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggaccaagcagcgtcGtctgtgtccagagggtccca	7	7	15	12	2	1	1	0	0	1	1	4	2	3	2	3	3	2	2	3	3	1	0	rs202239294		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chrX:153174574G>T	ENST00000350060.5	-	21	2598	c.2557C>A	c.(2557-2559)Cga>Aga	p.R853R	ARHGAP4_ENST00000370028.3_Silent_p.R893R|ARHGAP4_ENST00000370016.1_Silent_p.R832R|ARHGAP4_ENST00000393721.1_Silent_p.R675R|ARHGAP4_ENST00000537206.1_Silent_p.R830R|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	853					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)					AAGCAGCGTCGTCTGTGTCCA	0.632																																					p.R893R													.	.			0			c.C2677A												123	86	99					X																	153174574		2203	4300	6503	SO:0001819	synonymous_variant	393	exon22			AGCGTCGTCTGTG	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.2557C>A	X.37:g.153174574G>T			34	0	0		55	0.05	3	NM_001164741	70	0	0	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1																																																																																					0.632	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061119.1		NM_001666		T	153174574	G	T	153174574	2	4	9	1	0	0	0	0	0	0	0	1	885	1153	40	1		1	ARHGAP4	23	153174574	Silent	SNP	G	TCGA-2G-AAFI-01A-21D-A42Y-10	22761885	153174574	2095986	57	613											
C1orf127	148345	broad.mit.edu	37	chr1	11014129	11014129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaccggggcagccatctcgGcaaattccaggctcaggtct	8	7	13	13	2	3	0	1	0	2	0	5	1	4	1	3	6	1	3	3	6	1	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:11014129G>A	ENST00000377008.4	-	9	991	c.545C>T	c.(544-546)gCc>gTc	p.A182V	C1orf127_ENST00000377004.4_Missense_Mutation_p.A349V			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	182										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGCCATCTCGGCAAATTCCAG	0.557																																					p.A349V													.	C1orf127	134		0			c.C1046T												131	131	131					1																	11014129		2203	4300	6503	SO:0001583	missense	148345	exon10			ATCTCGGCAAATT	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.545C>T	1.37:g.11014129G>A	ENSP00000366207:p.Ala182Val		347	0	0		406	0.02	8	NM_001170754	2	0	0	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.01|12.01	1.809742|1.809742	0.31961|0.31961	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.29397|.	1.57;1.57|.	4.98|4.98	3.01|3.01	0.34805|0.34805	.|.	1.289130|.	0.05473|.	N|.	0.553346|.	T|T	0.30262|0.30262	0.0759|0.0759	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;P|.	0.44816|.	0.844;0.728;0.844|.	P;B;P|.	0.49421|.	0.46;0.313;0.61|.	T|T	0.20940|0.20940	-1.0260|-1.0260	10|5	0.72032|.	D|.	0.01|.	-0.4604|-0.4604	8.6356|8.6356	0.33945|0.33945	0.1943:0.0:0.8057:0.0|0.1943:0.0:0.8057:0.0	.|.	200;200;182|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	V|S	349;182|184;327	ENSP00000366203:A349V;ENSP00000366207:A182V|.	ENSP00000366203:A349V|.	A|P	-|-	2|1	0|0	C1orf127|C1orf127	10936716|10936716	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	0.300000|0.300000	0.19156|0.19156	0.449000|0.449000	0.26747|0.26747	-0.345000|-0.345000	0.07892|0.07892	GCC|CCG			0.557	C1orf127-202	KNOWN	basic	protein_coding	protein_coding				NM_173507		A	11014129	G	A	11014129	3	1	10	1	0	0	0	0	1	0	0	0	1996	1203	42	2	1437	2	C1orf127	1	11014129	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10		11014129	238236492	1	614											
PRAMEF1	65121	broad.mit.edu	37	chr1	12856083	12856084	+	Frame_Shift_Ins	INS	-	-	C																															gaggatcttcattggccccaINSccccctgcccttcctgtggc																										TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:12856083_12856084insC	ENST00000332296.7	+	4	1466_1467	c.1363_1364insC	c.(1363-1365)accfs	p.T455fs	PRAMEF1_ENST00000400814.3_Frame_Shift_Ins_p.T210fs	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	455					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATTGGCCCCACCCCCTGCCCT	0.559																																					p.T455fs													.	PRAMEF1	78		0			c.1363_1364insC																																									SO:0001589	frameshift_variant	65121	exon4			GGCCCCACCCCCT	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1368dupC	1.37:g.12856088_12856088dupC	ENSP00000332134:p.Thr455fs		1067	0	0		1405	0	0	NM_023013	0		0	Q9UQP2	Frame_Shift_Ins	INS	ENST00000332296.7	37	CCDS148.1																																																																																					0.559	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005458.1		NM_023013		C	12856084	-	C	12856083	7	5	10	1	0	1	1	0	0	0	0	0	12445	159	6	0	1373	0	PRAMEF1	1	12856083	Frame_Shift_Ins	INS	-	TCGA-2G-AAFJ-01A-11D-A42Y-10	1841954	12856083	236394538	2	615											
ALDH4A1	8659	mdanderson.org	37	chr1	19216599	19216599	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggtgtgcttccaccgcagGctggaacacaagggcagggg	9	5	17	10	1	0	0	0	0	0	0	1	2	1	1	2	6	2	4	2	6	2	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:19216599G>T	ENST00000375341.3	-	2	320	c.63C>A	c.(61-63)ggC>ggA	p.G21G	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_5'UTR|ALDH4A1_ENST00000290597.5_Splice_Site_p.G21G|ALDH4A1_ENST00000538839.1_Splice_Site_p.G21G	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	21					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCGCAGGCTGGAACACA	0.652																																					p.G21G													.	.			0			c.C63A												36	30	32					1																	19216599		2203	4300	6503	SO:0001630	splice_region_variant	8659	exon2			CCGCAGGCTGGAA	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.63-1C>A	1.37:g.19216599G>T			28	0	0		60	0.08	5	NM_003748	17	0	0	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	CCDS188.1																																																																																					0.652	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006954.1			Silent	T	19216599	G	T	19216599	5	4	10	1	0	0	0	0	0	0	1	0	501	1217	42	2	1684	2	ALDH4A1	1	19216599	Splice_Site	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	6360516	19216599	230034022	3	616											
LDLRAD2	401944	broad.mit.edu	37	chr1	22141108	22141108	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcaacacctcctccccGgccccggccgacccgtgcgc	4	4	10	23	6	1	0	1	0	0	0	3	1	3	0	8	2	2	1	8	2	1	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:22141108G>C	ENST00000344642.2	+	2	490	c.303G>C	c.(301-303)ccG>ccC	p.P101P	LDLRAD2_ENST00000543870.1_Silent_p.P101P	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	101						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CCTCCTCCCCGGCCCCGGCCG	0.756																																					p.P101P													.	LDLRAD2	17		0			c.G303C																																									SO:0001819	synonymous_variant	401944	exon2			CTCCCCGGCCCCG	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 2"				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.303G>C	1.37:g.22141108G>C			171	0.0584795322	10		200	0.09	17	NM_001013693	0		0	B9EJB3|Q6ZSN5	Silent	SNP	ENST00000344642.2	37	CCDS30624.1																																																																																					0.756	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007601.1		NM_001013693		C	22141108	G	C	22141108	2	2	10	1	0	0	0	0	0	0	0	1	8721	1103	39	5		5	LDLRAD2	1	22141108	Silent	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	2924509	22141108	227109513	4	617											
FAAH	2166	mdanderson.org	37	chr1	46874212	46874212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccccggccatgaggcggGccgtgctggagaccaaacag	8	4	14	15	3	0	2	0	1	0	1	1	3	1	2	6	4	2	1	6	4	1	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:46874212G>T	ENST00000243167.8	+	8	1117	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	345			A -> D (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)	CATGAGGCGGGCCGTGCTGGA	0.612																																					p.A345S													FAAH,NS,carcinoma,-1,2	FAAH	-1	2	0			c.G1033T												179	188	185					1																	46874212		2203	4300	6503	SO:0001583	missense	2166	exon8			AGGCGGGCCGTGC	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.1033G>T	1.37:g.46874212G>T	ENSP00000243167:p.Ala345Ser		134	0	0		115	0.04	5	NM_001441	24	0	0	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	CCDS535.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717337	0.89205	.	.	ENSG00000117480	ENST00000243167;ENST00000396325	T	0.69561	-0.41	5.4	5.4	0.78164	Amidase signature domain (2);	0.122395	0.56097	D	0.000038	D	0.87489	0.6190	H	0.94771	3.58	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.90645	0.4578	10	0.72032	D	0.01	-14.7442	19.1897	0.93660	0.0:0.0:1.0:0.0	.	345	O00519	FAAH1_HUMAN	S	345;52	ENSP00000243167:A345S	ENSP00000243167:A345S	A	+	1	0	FAAH	46646799	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.276000	0.65580	2.548000	0.85928	0.655000	0.94253	GCC			0.612	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021443.1		NM_001441		T	46874212	G	T	46874212	3	4	10	1	0	0	0	0	1	0	0	0	5363	1203	42	2	1063	2	FAAH	1	46874212	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	24733104	46874212	202376409	5	618											
RCSD1	92241	hgsc.bcm.edu	37	chr1	167653179	167653179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtggacaactcggcgTccccctcggtggcccagctg	6	7	12	16	3	0	0	0	0	0	0	3	1	1	1	4	4	2	1	4	4	2	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:167653179T>C	ENST00000367854.3	+	2	380	c.49T>C	c.(49-51)Tcc>Ccc	p.S17P	RCSD1_ENST00000537350.1_Missense_Mutation_p.S17P	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	17					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAACTCGGCGTCCCCCTCGGT	0.597																																					p.S17P													.	.			0			c.T49C												129	143	138					1																	167653179		2203	4300	6503	SO:0001583	missense	92241	exon2			TCGGCGTCCCCCT	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.49T>C	1.37:g.167653179T>C	ENSP00000356828:p.Ser17Pro		83	0	0		102	0.06	6	NM_052862	19	0	0	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	T	3.612	-0.079347	0.07141	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.52754	0.74;0.65	5.15	-5.04	0.02964	.	1.201850	0.05836	N	0.618404	T	0.10078	0.0247	N	0.22421	0.69	0.26531	N	0.974255	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.14952	-1.0454	9	0.26408	T	0.33	0.136	5.0963	0.14735	0.2187:0.3557:0.0:0.4256	.	17;17	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	P	17	ENSP00000356828:S17P;ENSP00000439409:S17P	ENSP00000355291:S17P	S	+	1	0	RCSD1	165919803	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-1.787000	0.01764	-1.274000	0.02421	-0.250000	0.11733	TCC			0.597	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000085451.1		NM_052862		C	167653179	T	C	167653179	3	2	10	1	0	0	0	0	1	0	0	0	13208	1667	58	4	55	4	RCSD1	1	167653179	Missense_Mutation	SNP	T	TCGA-2G-AAFJ-01A-11D-A42Y-10	120778967	167653179	81597442	6	619											
KIF21B	23046	mdanderson.org	37	chr1	200974466	200974466	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggtgcacatgcgcatctgGcacaggtggatggtgaagat	9	9	16	7	1	1	2	0	1	1	1	1	3	1	3	0	5	2	3	0	5	1	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:200974466G>T	ENST00000422435.2	-	5	1018	c.702C>A	c.(700-702)tgC>tgA	p.C234*	KIF21B_ENST00000332129.2_Nonsense_Mutation_p.C234*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.C234*|KIF21B_ENST00000360529.5_Nonsense_Mutation_p.C234*	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	234	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCGCATCTGGCACAGGTGGA	0.657																																					p.C234X													.	.			0			c.C702A												87	77	81					1																	200974466		2203	4300	6503	SO:0001587	stop_gained	23046	exon5			CATCTGGCACAGG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.702C>A	1.37:g.200974466G>T	ENSP00000411831:p.Cys234*		23	0	0		35	0.09	3	NM_017596	3	0	0	B2RP62|B7ZMI0|Q5T4J3	Nonsense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	41	8.592357	0.98877	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	13.6131	0.62092	0.0:0.0:0.8448:0.1551	.	.	.	.	X	234	.	ENSP00000328494:C234X	C	-	3	2	KIF21B	199241089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.527000	0.53517	2.403000	0.81681	0.655000	0.94253	TGC			0.657	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000382635.1		XM_371332		T	200974466	G	T	200974466	4	4	10	1	0	0	0	0	0	1	0	0	8304	1195	42	2	4292	2	KIF21B	1	200974466	Nonsense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	33321287	200974466	48276155	7	620											
OBSCN	84033	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	228557931	228557931	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgcctctcccaccccTggttcctggtgagtatcagg	5	10	10	16	0	2	1	1	1	1	0	4	1	3	1	6	3	1	2	6	3	1	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:228557931T>A	ENST00000422127.1	+	92	20202	c.20158T>A	c.(20158-20160)Tgg>Agg	p.W6720R	OBSCN_ENST00000570156.2_Missense_Mutation_p.W7677R|OBSCN_ENST00000366707.4_Missense_Mutation_p.W4354R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6720	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				CTCCCACCCCTGGTTCCTGGT	0.677																																					p.W7677R													.	OBSCN	2142		0			c.T23029A												30	33	32					1																	228557931		1953	4135	6088	SO:0001583	missense	84033	exon103			CACCCCTGGTTCC	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.20158T>A	1.37:g.228557931T>A	ENSP00000409493:p.Trp6720Arg		181	0	0		190	0.04	7	NM_001271223	5	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.70|14.70	2.613313|2.613313	0.46631|0.46631	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.69435	.|-0.4;-0.4	4.41|4.41	4.41|4.41	0.53225|0.53225	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.	.|.	.|.	.|.	D|D	0.86772|0.86772	0.6013|0.6013	H|H	0.96970|0.96970	3.915|3.915	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.90657|0.90657	0.4587|0.4587	5|9	.|0.87932	.|D	.|0	.|.	12.7343|12.7343	0.57214|0.57214	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|6720	.|Q5VST9	.|OBSCN_HUMAN	Q|R	1336|6720;4354	.|ENSP00000409493:W6720R;ENSP00000355668:W4354R	.|ENSP00000355668:W4354R	L|W	+|+	2|1	0|0	OBSCN|OBSCN	226624554|226624554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.428000|0.428000	0.31595|0.31595	3.644000|3.644000	0.54381|0.54381	1.848000|1.848000	0.53677|0.53677	0.374000|0.374000	0.22700|0.22700	CTG|TGG			0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		A	228557931	T	A	228557931	3	1	10	1	0	0	0	0	1	0	0	0	10829	1580	55	5	21730	5	OBSCN	1	228557931	Missense_Mutation	SNP	T	TCGA-2G-AAFJ-01A-11D-A42Y-10	27583465	228557931	20692690	8	621											
GNPAT	8443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	231403537	231403537	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagcccctggaccctaatAgttgctgttctgcttcagaa	8	13	9	11	0	2	2	1	1	1	1	2	3	2	3	3	1	3	4	3	1	3	6			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:231403537A>T	ENST00000366647.4	+	9	1336	c.1167A>T	c.(1165-1167)atA>atT	p.I389I	GNPAT_ENST00000366646.3_Silent_p.I328I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	389					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)				GGACCCTAATAGTTGCTGTTC	0.458																																					p.I389I													.	.			0			c.A1167T												113	105	108					1																	231403537		2203	4300	6503	SO:0001819	synonymous_variant	8443	exon9			CCTAATAGTTGCT	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.1167A>T	1.37:g.231403537A>T			149	0	0		138	0.25	35	NM_014236	135	0.31	42	B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	ENST00000366647.4	37	CCDS1592.1																																																																																					0.458	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092871.1				T	231403537	A	T	231403537	2	4	10	1	0	0	0	0	0	0	0	1	6555	410	15	5		5	GNPAT	1	231403537	Silent	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10	2845606	231403537	17847084	9	622											
YWHAQ	10971	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	9725475	9725475	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactgtctgatgtccaaagCtagaaaaagaagaatcatat	17	9	8	7	0	2	4	1	1	1	3	3	4	3	4	1	0	1	2	1	0	7	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:9725475C>G	ENST00000381844.4	-	5	842		c.e5-1		YWHAQ_ENST00000474715.1_Splice_Site|YWHAQ_ENST00000238081.3_Splice_Site			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta						apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ATGTCCAAAGCTAGAAAAAGA	0.353																																					.													.	YWHAQ	14		0			c.679-1G>C												96	92	93					2																	9725475		2203	4300	6503	SO:0001630	splice_region_variant	10971	exon7			CCAAAGCTAGAAA	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"protein tau"	609009	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.679-1G>C	2.37:g.9725475C>G			231	0	0		414	0.03	13	NM_006826	4	0	0	D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Splice_Site	SNP	ENST00000381844.4	37	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229363	0.58777	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4146	0.87496	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YWHAQ	9642926	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.363000	0.79516	2.635000	0.89317	0.467000	0.42956	.			0.353	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039014.4		NM_006826	Intron	G	9725475	C	G	9725475	5	3	10	1	0	0	0	0	0	0	1	0	17529	811	28	5	63	5	YWHAQ	2	9725475	Splice_Site	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10		9725475	233473898	10	623											
NT5C1B	93034	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	18765887	18765887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgctgctgctgctgctgctCggacagagagttgcggtcca	5	9	14	13	3	0	1	0	0	0	1	2	3	1	2	2	2	6	7	2	2	0	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:18765887C>G	ENST00000359846.2	-	5	873	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	NT5C1B_ENST00000600945.1_Missense_Mutation_p.E266Q|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E266Q|NT5C1B_ENST00000304081.4_Missense_Mutation_p.E206Q|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	266					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCTGCTGCTCGGACAGAGAG	0.652																																					p.E283Q													NT5C1B,NS,carcinoma,0,1	NT5C1B	0	1	0			c.G847C												18	20	19					2																	18765887		2202	4296	6498	SO:0001583	missense	93034	exon5			GCTGCTCGGACAG	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.796G>C	2.37:g.18765887C>G	ENSP00000352904:p.Glu266Gln		79	0	0		141	0.07	10	NM_001199087	1	0	0	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174924	0.57692	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89746	-2.56	4.34	3.44	0.39384	.	1.923890	0.02542	N	0.094695	D	0.89354	0.6691	N	0.24115	0.695	0.09310	N	1	D;D;D;D;B;P;D;D;D	0.58620	0.983;0.983;0.963;0.983;0.05;0.849;0.978;0.963;0.978	P;P;P;P;B;B;P;P;P	0.54544	0.676;0.676;0.574;0.676;0.014;0.415;0.755;0.574;0.755	T	0.79374	-0.1830	10	0.41790	T	0.15	-17.1853	12.8755	0.57988	0.0:0.8353:0.1647:0.0	.	249;283;206;249;208;58;206;266;266	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	Q	266;208;206;266	ENSP00000412639:E208Q	ENSP00000305979:E206Q	E	-	1	0	NT5C1B-RDH14;NT5C1B	18629368	0.000000	0.05858	0.157000	0.22605	0.007000	0.05969	0.315000	0.19451	1.121000	0.41925	-0.537000	0.04273	GAG			0.652	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000323822.1				G	18765887	C	G	18765887	3	3	10	1	0	0	0	0	1	0	0	0	10703	893	31	5	1060	5	NT5C1B	2	18765887	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	9040412	18765887	224433486	11	624											
SOS1	6654	broad.mit.edu	37	chr2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-																															gaaggcattgccatggtcacTttttttgcccaaagggggag																										TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					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)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																												p.S1242fs													.	SOS1	134		0			c.3724delA												134	134	134					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	exon23	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	GGTCACTTTTTTT	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.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs		259	0	0		589	0.02	9	NM_005633	185	0	0	A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	CCDS1802.1																																																																																					0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219948.3		NM_005633		-	39213243	T	-	39213243	7	5	10	1	0	1	0	1	0	0	0	0	14959	1609	56	0	281	0	SOS1	2	39213243	Frame_Shift_Del	DEL	T	TCGA-2G-AAFJ-01A-11D-A42Y-10	20447356	39213243	203986130	12	625											
SOS1	6654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	39224171	39224171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcggattcaagttttcAaagaacctctaaaataaatg	16	11	5	9	1	3	1	2	0	1	1	4	2	3	2	2	1	1	1	2	1	7	5			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:39224171A>T	ENST00000426016.1	-	20	3059	c.2973T>A	c.(2971-2973)ttT>ttA	p.F991L	SOS1_ENST00000395038.2_Missense_Mutation_p.F991L|SOS1_ENST00000402219.2_Missense_Mutation_p.F991L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	991	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)	p.N993fs*5(1)		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)				TCAAGTTTTCAAAGAACCTCT	0.289									Noonan syndrome																												p.F991L													.	.			1	Deletion - Frameshift(1)	autonomic_ganglia(1)	c.T2973A												43	44	44					2																	39224171		2201	4300	6501	SO:0001583	missense	6654	exon19	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	GTTTTCAAAGAAC	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.2973T>A	2.37:g.39224171A>T	ENSP00000387784:p.Phe991Leu		87	0	0		235	0.1	23	NM_005633	114	0.12	14	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776816	0.49786	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.23552	1.9;1.9;1.9	5.22	4.07	0.47477	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.054374	0.85682	D	0.000000	T	0.09512	0.0234	N	0.02011	-0.69	0.80722	D	1	B	0.32876	0.388	B	0.34779	0.189	T	0.23332	-1.0191	10	0.17369	T	0.5	.	8.8423	0.35148	0.8477:0.0:0.1523:0.0	.	991	Q07889	SOS1_HUMAN	L	991;991;723;991;991	ENSP00000387784:F991L;ENSP00000384675:F991L;ENSP00000378479:F991L	ENSP00000263879:F991L	F	-	3	2	SOS1	39077675	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.459000	0.53021	0.832000	0.34804	0.383000	0.25322	TTT			0.289	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219948.3		NM_005633		T	39224171	A	T	39224171	3	4	10	1	0	0	0	0	1	0	0	0	14959	127	5	5	1048	5	SOS1	2	39224171	Missense_Mutation	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10	10928	39224171	203975202	13	626											
VPS24	51652	mdanderson.org	37	chr2	86737587	86737587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttctgcagggaaccaGccactcgcaagaccgctgaa	10	7	10	14	2	2	2	0	1	2	1	3	3	2	3	3	1	4	4	3	1	3	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:86737587G>A	ENST00000263856.4	-	4	430	c.302C>T	c.(301-303)gCt>gTt	p.A101V	CHMP3_ENST00000409727.1_Intron|CHMP3_ENST00000439940.2_Missense_Mutation_p.A130V|CHMP3_ENST00000494623.1_5'UTR|CHMP3_ENST00000409225.2_Missense_Mutation_p.A35V|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.A130V	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	101	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											CAGGGAACCAGCCACTCGCAA	0.458																																					p.A130V													.	.			0			c.C389T												83	76	78					2																	86737587		2203	4300	6503	SO:0001583	missense	100526767	exon6			GAACCAGCCACTC	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"Charged multivesicular body proteins"	29865	protein-coding gene	gene with protein product		610052	"vacuolar protein sorting 24 (yeast)", "vacuolar protein sorting 24 homolog (S. cerevisiae)"	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.302C>T	2.37:g.86737587G>A	ENSP00000263856:p.Ala101Val		59	0	0		50	0.06	3	NM_001198954	180	0	0	A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402255	0.83230	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409225;ENST00000439940;ENST00000440757	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.47	4.58	0.56647	.	0.048595	0.85682	D	0.000000	T	0.68476	0.3005	L	0.31294	0.92	0.80722	D	1	P;D	0.58970	0.892;0.984	B;P	0.55545	0.446;0.778	T	0.62590	-0.6822	10	0.17832	T	0.49	-4.8455	14.3093	0.66405	0.0738:0.0:0.9262:0.0	.	130;101	Q9Y3E7-3;Q9Y3E7	.;CHMP3_HUMAN	V	101;35;130;208	ENSP00000263856:A101V;ENSP00000386590:A35V;ENSP00000405575:A130V;ENSP00000392995:A208V	ENSP00000392995:A208V	A	-	2	0	VPS24;RNF103-VPS24	86591098	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.398000	0.97281	2.566000	0.86566	0.655000	0.94253	GCT			0.458	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330015.2		NM_016079		A	86737587	G	A	86737587	3	1	10	1	0	0	0	0	1	0	0	0	17219	971	34	2	378	2	VPS24	2	86737587	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	47513416	86737587	156461786	14	627											
CDK15	65061	broad.mit.edu	37	chr2	202688417	202688417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccagtatatgtctcaGcatccaggagggcttcatcc	8	10	10	13	0	2	0	2	0	1	0	5	1	4	1	3	3	1	3	3	3	2	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:202688417G>C	ENST00000374598.4	+	6	573	c.573G>C	c.(571-573)caG>caC	p.Q191H	CDK15_ENST00000410091.3_Missense_Mutation_p.Q140H|CDK15_ENST00000434439.1_Missense_Mutation_p.Q191H|CDK15_ENST00000488419.1_Intron|CDK15_ENST00000450471.2_Missense_Mutation_p.Q191H|CDK15_ENST00000260967.2_Missense_Mutation_p.Q140H			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	191	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)	ATATGTCTCAGCATCCAGGAG	0.468																																					p.Q191H													.	CDK15	66		0			c.G573C												172	158	163					2																	202688417		2203	4300	6503	SO:0001583	missense	65061	exon6			GTCTCAGCATCCA	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.573G>C	2.37:g.202688417G>C	ENSP00000363726:p.Gln191His		120	0	0		149	0.03	4	NM_001261435	3	0	0	A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37		.	.	.	.	.	.	.	.	.	.	G	14.21	2.466312	0.43839	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	6.16	1.88	0.25563	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063675	0.64402	N	0.000004	T	0.24812	0.0602	N	0.16266	0.395	0.53005	D	0.99996	B;B	0.16396	0.017;0.013	B;B	0.20184	0.028;0.017	T	0.04537	-1.0944	10	0.34782	T	0.22	-10.484	9.4862	0.38931	0.1967:0.1077:0.6956:0.0	.	191;191	Q96Q40;F8W6H8	CDK15_HUMAN;.	H	140;140;191;191;191	ENSP00000386901:Q140H;ENSP00000260967:Q140H;ENSP00000406472:Q191H;ENSP00000412775:Q191H;ENSP00000363726:Q191H	ENSP00000260967:Q140H	Q	+	3	2	CDK15	202396662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.733000	0.47360	0.480000	0.27534	0.650000	0.86243	CAG			0.468	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000336053.2				C	202688417	G	C	202688417	3	2	10	1	0	0	0	0	1	0	0	0	3133	962	34	5	438	5	CDK15	2	202688417	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	115950830	202688417	40510956	15	628											
SLC4A3	6508	broad.mit.edu	37	chr2	220503458	220503458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagggctctcagtgaccTctcccgataagcgctcgtgg	7	9	11	14	3	2	1	1	1	2	0	5	2	2	1	2	2	2	2	2	2	2	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:220503458T>C	ENST00000358055.3	+	19	3402	c.2890T>C	c.(2890-2892)Tct>Cct	p.S964P	SLC4A3_ENST00000373762.3_Missense_Mutation_p.S991P|SLC4A3_ENST00000317151.3_Missense_Mutation_p.S964P|SLC4A3_ENST00000273063.6_Missense_Mutation_p.S991P|SLC4A3_ENST00000373760.2_Missense_Mutation_p.S964P			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	964	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGTGACCTCTCCCGATAA	0.627																																					p.S991P													.	SLC4A3	144		0			c.T2971C												61	57	58					2																	220503458		2203	4300	6503	SO:0001583	missense	6508	exon19			GTGACCTCTCCCG		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2890T>C	2.37:g.220503458T>C	ENSP00000350756:p.Ser964Pro		81	0.012345679	1		107	0.03	3	NM_201574	47	0	0	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420040	0.62622	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86389	0.5921	M	0.79123	2.44	0.51482	D	0.999921	P;P;D	0.59357	0.886;0.956;0.985	P;P;P	0.59889	0.708;0.864;0.865	D	0.86208	0.1623	10	0.42905	T	0.14	.	10.5825	0.45263	0.1441:0.0:0.0:0.8559	.	668;964;991	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	P	964;964;991;991;224;964	ENSP00000350756:S964P;ENSP00000362865:S964P;ENSP00000273063:S991P;ENSP00000362867:S991P;ENSP00000314006:S964P	ENSP00000273063:S991P	S	+	1	0	SLC4A3	220211702	0.192000	0.23301	1.000000	0.80357	0.959000	0.62525	0.648000	0.24828	2.099000	0.63709	0.529000	0.55759	TCT			0.627	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316472.1		NM_005070		C	220503458	T	C	220503458	3	2	10	1	0	0	0	0	1	0	0	0	14678	1551	54	4	3041	4	SLC4A3	2	220503458	Missense_Mutation	SNP	T	TCGA-2G-AAFJ-01A-11D-A42Y-10	17815041	220503458	22695915	16	629											
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	4774832	4774832	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgtcagaccttcgggaCgaagagagagccttaccagc	13	5	12	11	3	1	3	1	0	0	3	2	7	1	4	3	1	4	0	3	1	3	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr3:4774832C>A	ENST00000443694.2	+	40	5236	c.5236C>A	c.(5236-5238)Cga>Aga	p.R1746R	ITPR1_ENST00000302640.8_Silent_p.R1746R|ITPR1_ENST00000423119.2_Silent_p.R1713R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.R1746R|ITPR1_ENST00000357086.4_Silent_p.R1713R|ITPR1_ENST00000456211.2_Silent_p.R1698R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1761					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)	p.R1698G(1)|p.R1713G(1)|p.R1746G(1)		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)	ACCTTCGGGACGAAGAGAGAG	0.512																																					p.R1746R													ITPR1_ENST00000357086,NS,carcinoma,0,3	ITPR1_ENST00000357086	0	3	3	Substitution - Missense(3)	endometrium(3)	c.C5236A												68	72	71					3																	4774832		1977	4144	6121	SO:0001819	synonymous_variant	3708	exon42			TCGGGACGAAGAG	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.5236C>A	3.37:g.4774832C>A			109	0	0		127	0.06	7	NM_001168272	20	0	0	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																					0.512	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337982.3		NM_002222		A	4774832	C	A	4774832	2	1	10	1	0	0	0	0	0	0	0	1	7935	528	19	1		1	ITPR1	3	4774832	Silent	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10		4774832	193247598	17	630											
SPCS1	28972	mdanderson.org	37	chr3	52740155	52740155	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccgggcttagaaggcccgGctactgacgcgcagtgccag	7	6	14	14	4	0	2	0	1	0	1	1	2	1	2	3	3	2	3	3	3	3	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr3:52740155G>T	ENST00000602728.1	+	0	62				GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.A32S|GLT8D1_ENST00000478968.2_5'Flank|GLT8D1_ENST00000394783.3_5'Flank|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000423431.1_Intron			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		AGAAGGCCCGGCTACTGACGC	0.716																																					p.A32S													.	.			0			c.G94T												6	10	9					3																	52740155		685	1572	2257	SO:0001623	5_prime_UTR_variant	28972	exon1			GGCCCGGCTACTG	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.-108G>T	3.37:g.52740155G>T			32	0	0		53	0.06	3	NM_014041	290	0	0	B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		.	.	.	.	.	.	.	.	.	.	G	9.293	1.051175	0.19827	.	.	ENSG00000114902	ENST00000233025	.	.	.	4.41	-5.77	0.02369	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18241	-1.0343	8	0.28530	T	0.3	.	1.9465	0.03358	0.1139:0.2482:0.337:0.3009	.	32	Q9Y6A9	SPCS1_HUMAN	S	32	.	ENSP00000233025:A32S	A	+	1	0	SPCS1	52715195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.631000	0.05496	-1.107000	0.03004	-0.747000	0.03512	GCT			0.716	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000467759.1		NM_014041		T	52740155	G	T	52740155	1	4	10	0	1	0	0	0	0	0	0	0	15046	1203	42	2		2	SPCS1	3	52740155	5'UTR	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	47965323	52740155	145282275	18	631											
EBLN2	55096	hgsc.bcm.edu	37	chr3	73111480	73111480	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgagctatctgggaaaaAcagacagtatccactggatg	14	10	10	7	0	1	2	0	1	1	1	2	4	2	4	1	2	2	2	1	2	4	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr3:73111480A>C	ENST00000533473.1	+	1	671	c.248A>C	c.(247-249)aAc>aCc	p.N83T	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	83										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TCTGGGAAAAACAGACAGTAT	0.483																																					p.N83T													.	.			0			c.A248C												34	34	34					3																	73111480		1943	4138	6081	SO:0001583	missense	55096	exon1			GGAAAAACAGACA		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.248A>C	3.37:g.73111480A>C	ENSP00000432104:p.Asn83Thr		158	0	0		225	0.04	9	NM_018029	4	0	0	Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	A	2.477	-0.320603	0.05386	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	-0.848	0.10727	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.28038	-1.0056	7	0.20046	T	0.44	.	.	.	.	.	83	Q6P2I7	EBLN2_HUMAN	T	83	.	ENSP00000432104:N83T	N	+	2	0	EBLN2	73194170	0.030000	0.19436	0.004000	0.12327	0.004000	0.04260	-1.980000	0.01492	-0.352000	0.08237	-0.354000	0.07668	AAC			0.483	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386932.1		NM_018029		C	73111480	A	C	73111480	3	2	10	1	0	0	0	0	1	0	0	0	4889	43	2	4	250	4	EBLN2	3	73111480	Missense_Mutation	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10	20371325	73111480	124910950	19	632											
SENP7	57337	broad.mit.edu	37	chr3	101066800	101066800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagaagaaaagaatagcatGactccttttactgtgattat	15	12	7	7	0	0	5	0	2	0	3	1	5	1	5	2	0	2	1	2	0	7	4	rs201608850		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr3:101066800G>A	ENST00000394095.2	-	13	1806	c.1753C>T	c.(1753-1755)Cat>Tat	p.H585Y	SENP7_ENST00000358203.3_Missense_Mutation_p.H421Y|SENP7_ENST00000314261.7_Missense_Mutation_p.H519Y|SENP7_ENST00000348610.3_Missense_Mutation_p.H552Y|SENP7_ENST00000394091.1_Missense_Mutation_p.H421Y|SENP7_ENST00000394094.2_Missense_Mutation_p.H520Y	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	585						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						AGAATAGCATGACTCCTTTTA	0.368																																					p.H585Y													.	SENP7	170		0			c.C1753T												131	138	136					3																	101066800		2203	4298	6501	SO:0001583	missense	57337	exon13			TAGCATGACTCCT		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.1753C>T	3.37:g.101066800G>A	ENSP00000377655:p.His585Tyr		238	0	0		413	0.02	8	NM_020654	38	0.03	1	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	4.655	0.121785	0.08931	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18338	2.22;2.23;2.23;2.23;2.23;2.22	5.62	1.94	0.25998	.	0.550372	0.17914	N	0.157757	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.44090	0.744;0.826;0.684;0.682	B;B;B;B	0.40506	0.271;0.331;0.192;0.122	T	0.15065	-1.0450	10	0.02654	T	1	-0.2818	3.0567	0.06187	0.1587:0.119:0.5329:0.1894	.	421;519;552;585	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	Y	585;520;519;421;421;552	ENSP00000377655:H585Y;ENSP00000377654:H520Y;ENSP00000313624:H519Y;ENSP00000377651:H421Y;ENSP00000350936:H421Y;ENSP00000342159:H552Y	ENSP00000313624:H519Y	H	-	1	0	SENP7	102549490	0.909000	0.30893	0.762000	0.31397	0.723000	0.41478	1.395000	0.34520	1.378000	0.46305	-0.145000	0.13849	CAT			0.368	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313957.2		NM_020654		A	101066800	G	A	101066800	3	1	10	1	0	0	0	0	1	0	0	0	14074	1290	45	3	1447	3	SENP7	3	101066800	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	27955320	101066800	96955630	20	633											
PDS5A	23244	mdanderson.org	37	chr4	39875970	39875970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtgtatacagtgcacaGcctgttttgcttggtgtgga	6	14	14	7	1	0	0	0	0	0	0	0	1	0	1	1	3	4	4	1	3	2	5			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr4:39875970G>T	ENST00000303538.8	-	20	2755	c.2216C>A	c.(2215-2217)gCt>gAt	p.A739D		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						ACAGTGCACAGCCTGTTTTGC	0.338																																					p.A739D													PDS5A,NS,carcinoma,0,1	PDS5A	0	1	0			c.C2216A												124	114	117					4																	39875970		1825	4088	5913	SO:0001583	missense	23244	exon20			TGCACAGCCTGTT	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.2216C>A	4.37:g.39875970G>T	ENSP00000303427:p.Ala739Asp		173	0	0		140	0.04	5	NM_001100399	83	0	0		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262834	0.95399	.	.	ENSG00000121892	ENST00000303538	T	0.73897	-0.79	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	M	0.73962	2.25	0.80722	D	1	D	0.62365	0.991	P	0.61201	0.885	D	0.84817	0.0794	9	.	.	.	-9.4084	19.1434	0.93455	0.0:0.0:1.0:0.0	.	739	Q29RF7	PDS5A_HUMAN	D	739	ENSP00000303427:A739D	.	A	-	2	0	PDS5A	39552365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.750000	0.98875	2.527000	0.85204	0.655000	0.94253	GCT			0.338	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361287.1		NM_015200		T	39875970	G	T	39875970	3	4	10	1	0	0	0	0	1	0	0	0	11708	971	34	2	1853	2	PDS5A	4	39875970	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10		39875970	151278306	21	634											
NAA15	80155	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	140270698	140270698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagaaatcctgaaaactgGgcctattacaaaggcttgga	15	8	11	7	0	0	2	0	1	0	1	1	5	1	3	2	3	2	1	2	3	6	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr4:140270698G>T	ENST00000296543.5	+	7	1097	c.774G>T	c.(772-774)tgG>tgT	p.W258C	NAA15_ENST00000398947.1_Missense_Mutation_p.W258C|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	258					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTGAAAACTGGGCCTATTACA	0.328																																					p.W258C													.	NAA15	88		0			c.G774T												48	45	46					4																	140270698		1802	4077	5879	SO:0001583	missense	80155	exon7			AAACTGGGCCTAT	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.774G>T	4.37:g.140270698G>T	ENSP00000296543:p.Trp258Cys		378	0.0026455026	1		292	0.05	16	NM_057175	27	0	0	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997093	0.54147	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.52526	0.66;0.66	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.064891	0.64402	D	0.000003	T	0.67646	0.2915	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.64287	-0.6443	10	0.40728	T	0.16	-7.0255	19.4586	0.94906	0.0:0.0:1.0:0.0	.	258	Q9BXJ9	NAA15_HUMAN	C	258;132;258	ENSP00000296543:W258C;ENSP00000381920:W258C	ENSP00000296543:W258C	W	+	3	0	NAA15	140490148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	2.828000	0.97474	0.655000	0.94253	TGG			0.328	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000267839.2		NM_057175		T	140270698	G	T	140270698	3	4	10	1	0	0	0	0	1	0	0	0	10134	1241	43	3	800	3	NAA15	4	140270698	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	100394728	140270698	50883578	22	635											
TNPO1	3842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	72168496	72168496	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgcatgtgtcaatcagttTatcatcagtaggactcaagc	11	13	9	8	0	5	0	5	0	0	0	5	1	5	1	0	1	2	4	0	1	4	4			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr5:72168496T>A	ENST00000337273.5	+	7	1053	c.627T>A	c.(625-627)ttT>ttA	p.F209L	TNPO1_ENST00000523768.1_Missense_Mutation_p.F159L|TNPO1_ENST00000454282.1_Missense_Mutation_p.F159L|TNPO1_ENST00000447967.2_Nonsense_Mutation_p.L121*|TNPO1_ENST00000506351.2_Missense_Mutation_p.F201L	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	209					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCAATCAGTTTATCATCAGTA	0.348																																					p.F209L													.	.			0			c.T627A												150	130	137					5																	72168496		2203	4299	6502	SO:0001583	missense	3842	exon7			TCAGTTTATCATC	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.627T>A	5.37:g.72168496T>A	ENSP00000336712:p.Phe209Leu		129	0	0		97	0.81	79	NM_002270	68	0.91	62	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	35|35	5.451804|5.451804	0.96205|0.96205	.|.	.|.	ENSG00000083312|ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351|ENST00000447967	T;T;T;T|.	0.61040|.	0.14;0.14;0.14;0.14|.	5.49|5.49	3.1|3.1	0.35709|0.35709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61223|.	0.2330|.	M|M	0.86953|0.86953	2.85|2.85	0.58432|0.58432	A|A	0.999999|0.999999	P;B|.	0.39044|.	0.656;0.36|.	P;B|.	0.44946|.	0.465;0.187|.	T|.	0.63102|.	-0.6712|.	9|.	0.54805|0.02654	T|T	0.06|1	-18.9134|-18.9134	7.9949|7.9949	0.30263|0.30263	0.0:0.2285:0.0:0.7715|0.0:0.2285:0.0:0.7715	.|.	159;209|.	Q92973-3;Q92973|.	.;TNPO1_HUMAN|.	L|X	209;159;159;201|121	ENSP00000336712:F209L;ENSP00000398524:F159L;ENSP00000428899:F159L;ENSP00000425118:F201L|.	ENSP00000336712:F209L|ENSP00000415164:L121X	F|L	+|+	3|2	2|0	TNPO1|TNPO1	72204252|72204252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.972000|0.972000	0.29409|0.29409	0.470000|0.470000	0.27294|0.27294	0.482000|0.482000	0.46254|0.46254	TTT|TTA			0.348	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000218577.3		NM_002270		A	72168496	T	A	72168496	3	1	10	1	0	0	0	0	1	0	0	0	16358	1751	61	5	653	5	TNPO1	5	72168496	Missense_Mutation	SNP	T	TCGA-2G-AAFJ-01A-11D-A42Y-10		72168496	108746764	23	636											
FAM193B	54540	broad.mit.edu;mdanderson.org	37	chr5	176963683	176963683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgcgggtggtggccggtgGggctgttagggggagcagtg	3	8	24	6	2	0	0	0	0	0	0	0	1	0	1	1	8	2	4	1	8	1	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr5:176963683G>T	ENST00000514747.1	-	4	800	c.752C>A	c.(751-753)cCc>cAc	p.P251H	FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000443375.2_Missense_Mutation_p.P138H|FAM193B_ENST00000508298.1_Intron	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	251	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						GTGGCCGGTGGGGCTGTTAGG	0.657																																					p.P251H													.	FAM193B	28		0			c.C752A												13	16	15					5																	176963683		2077	4196	6273	SO:0001583	missense	54540	exon4			CCGGTGGGGCTGT		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.752C>A	5.37:g.176963683G>T	ENSP00000422131:p.Pro251His		53	0	0		32	0.09	3	NM_001190946	54	0	0	E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944526	0.92593	.	.	ENSG00000146067	ENST00000514747;ENST00000443375	T;T	0.69306	-0.39;-0.39	5.22	5.22	0.72569	.	.	.	.	.	T	0.79137	0.4395	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81037	-0.1114	9	0.87932	D	0	-5.6933	18.8022	0.92022	0.0:0.0:1.0:0.0	.	138	E9PEZ8	.	H	251;138	ENSP00000422131:P251H;ENSP00000410098:P138H	ENSP00000410098:P138H	P	-	2	0	FAM193B	176896289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.433000	0.82419	0.462000	0.41574	CCC			0.657	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373121.1		NM_019057		T	176963683	G	T	176963683	3	4	10	1	0	0	0	0	1	0	0	0	5535	1232	43	3	1980	3	FAM193B	5	176963683	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	104795187	176963683	3951577	24	637											
HTR1E	3354	broad.mit.edu	37	chr6	87725556	87725556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccgccgcctaagcccTccccctagtcagtgcaccat	8	6	7	20	2	1	0	1	0	0	0	2	0	2	0	8	0	3	1	8	0	2	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr6:87725556T>C	ENST00000305344.5	+	2	1207	c.504T>C	c.(502-504)ccT>ccC	p.P168P		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	168					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCCTAAGCCCTCCCCCTAGTC	0.542																																					p.P168P													.	HTR1E	89		0			c.T504C												105	97	100					6																	87725556		2203	4300	6503	SO:0001819	synonymous_variant	3354	exon2			AAGCCCTCCCCCT		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.504T>C	6.37:g.87725556T>C			156	0.0192307692	3		140	0.04	5	NM_000865	1	0	0	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																					0.542	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000472488.2		NM_000865		C	87725556	T	C	87725556	2	2	10	1	0	0	0	0	0	0	0	1	7454	1538	54	4		4	HTR1E	6	87725556	Silent	SNP	T	TCGA-2G-AAFJ-01A-11D-A42Y-10		87725556	83389511	25	638											
ENPP3	5169	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	131971271	131971271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgctgggattttgaaGacacctgtgtggaatcaagt	10	13	12	6	0	1	2	1	1	0	1	1	4	1	4	1	2	2	2	1	2	3	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr6:131971271G>T	ENST00000414305.1	+	4	587	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.D87Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.D53Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.D53Y|ENPP3_ENST00000357639.3_Missense_Mutation_p.D87Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	87	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|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)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGATTTTGAAGACACCTGTGT	0.393																																					p.D87Y													.	ENPP3	117		0			c.G259T												211	210	211					6																	131971271		2203	4300	6503	SO:0001583	missense	5169	exon3			TTTGAAGACACCT	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.259G>T	6.37:g.131971271G>T	ENSP00000406261:p.Asp87Tyr		198	0.0101010101	2		250	0.25	63	NM_005021	1	1	1	Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339834	0.60963	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.7	2.99	0.34606	Somatomedin B domain (4);	0.519569	0.19376	N	0.115792	T	0.49372	0.1553	M	0.79258	2.445	0.39660	D	0.97059	D	0.71674	0.998	D	0.69479	0.964	T	0.53563	-0.8421	10	0.87932	D	0	-6.3842	8.7195	0.34432	0.2306:0.0:0.7694:0.0	.	87	O14638	ENPP3_HUMAN	Y	87;87;53;53;87	ENSP00000406261:D87Y;ENSP00000350265:D87Y;ENSP00000440810:D53Y;ENSP00000399269:D53Y;ENSP00000350964:D87Y	ENSP00000350265:D87Y	D	+	1	0	ENPP3	132012964	0.877000	0.30153	0.983000	0.44433	0.990000	0.78478	1.185000	0.32065	0.353000	0.24079	0.557000	0.71058	GAC			0.393	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043627.2				T	131971271	G	T	131971271	3	4	10	1	0	0	0	0	1	0	0	0	5138	942	33	3	269	3	ENPP3	6	131971271	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	44245715	131971271	39143796	26	639											
ZNF12	7559	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	6730638	6730638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgtacagtgaggtatgaCatccgagagaaggcttttcc	12	11	11	7	1	0	3	0	2	0	1	2	5	2	3	2	2	1	3	2	2	4	5			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:6730638C>T	ENST00000405858.1	-	5	2476	c.1935G>A	c.(1933-1935)atG>atA	p.M645I	ZNF12_ENST00000342651.5_Missense_Mutation_p.M607I|ZNF12_ENST00000404360.1_Missense_Mutation_p.M571I|AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	645					negative regulation of transcription, DNA-templated (GO:0045892)|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(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGAGGTATGACATCCGAGAGA	0.398																																					p.M645I													.	.			0			c.G1935A												92	97	95					7																	6730638		2197	4299	6496	SO:0001583	missense	7559	exon5			GTATGACATCCGA	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1935G>A	7.37:g.6730638C>T	ENSP00000385939:p.Met645Ile		114	0	0		137	0.05	7	NM_016265	82	0.07	6	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124010	0.20959	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.59638	0.25;0.25;0.25	4.18	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000144	T	0.47507	0.1449	N	0.03238	-0.38	0.29531	N	0.852768	D;P	0.56287	0.975;0.826	D;P	0.66196	0.942;0.491	T	0.41179	-0.9523	10	0.34782	T	0.22	.	8.118	0.30955	0.0:0.8932:0.0:0.1068	.	645;607	P17014;P17014-5	ZNF12_HUMAN;.	I	571;645;607;703	ENSP00000384405:M571I;ENSP00000385939:M645I;ENSP00000344745:M607I	ENSP00000344745:M607I	M	-	3	0	ZNF12	6697163	0.001000	0.12720	1.000000	0.80357	0.962000	0.63368	-0.012000	0.12699	2.624000	0.88883	0.655000	0.94253	ATG			0.398	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000324373.2		NM_016265		T	6730638	C	T	6730638	3	4	10	1	0	0	0	0	1	0	0	0	17741	478	17	3	162	3	ZNF12	7	6730638	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10		6730638	152408025	27	640											
MUC17	140453	hgsc.bcm.edu	37	chr7	100678866	100678866	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccagcatgccaaactcaaAtcctagtgaaggaaccactc	15	7	6	13	0	1	1	1	1	0	0	3	2	2	2	4	1	5	1	4	1	6	2	rs77700763	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:100678866A>C	ENST00000306151.4	+	3	4233	c.4169A>C	c.(4168-4170)aAt>aCt	p.N1390T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1390	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)	p.N1390T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAAACTCAAATCCTAGTGAA	0.488													N|||	15	0.00299521	0.0061	0.0014	5008	,	,		24993	0.003		0.001	False		,,,				2504	0.002				p.N1390T													MUC17,trunk,malignant_melanoma,0,1	MUC17	0	1	1	Substitution - Missense(1)	skin(1)	c.A4169C												253	259	257					7																	100678866		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTCAAATCCTAG	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.4169A>C	7.37:g.100678866A>C	ENSP00000302716:p.Asn1390Thr		100	0.01	1		128	0.06	8	NM_001040105	13	0	0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.440	-0.898965	0.02472	.	.	ENSG00000169876	ENST00000306151	T	0.02446	4.29	0.73	-0.321	0.12717	.	.	.	.	.	T	0.01029	0.0034	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45760	-0.9239	9	0.02654	T	1	.	1.8779	0.03222	0.3108:0.4468:0.0:0.2423	.	1390	Q685J3	MUC17_HUMAN	T	1390	ENSP00000302716:N1390T	ENSP00000302716:N1390T	N	+	2	0	MUC17	100465586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.976000	0.01497	-0.737000	0.04824	-3.291000	0.00046	AAT			0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		C	100678866	A	C	100678866	3	2	10	1	0	0	0	0	1	0	0	0	9990	101	4	4	4179	4	MUC17	7	100678866	Missense_Mutation	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10	93948228	100678866	58459797	28	641			1	3		3	3	123	N	G_A	4.216812e-08
MUC17	140453	hgsc.bcm.edu	37	chr7	100678918	100678918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacctgtcagcaccacgccGgtagtcagttctgaggctag	9	9	11	12	2	3	1	2	1	1	0	3	1	3	1	3	2	2	4	3	2	3	4	rs200627718|rs71286278	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:100678918G>A	ENST00000306151.4	+	3	4285	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1407	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)					GCACCACGCCGGTAGTCAGTT	0.512																																					p.P1407P													MUC17,colon,carcinoma,+1,1	MUC17	1	1	0			c.G4221A												272	277	276					7																	100678918		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACGCCGGTAGTC	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.4221G>A	7.37:g.100678918G>A			109	0.0183486239	2		148	0.05	7	NM_001040105	13	0.08	1	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			0.002		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		A	100678918	G	A	100678918	2	1	10	1	0	0	0	0	0	0	0	1	9990	1103	39	1		1	MUC17	7	100678918	Silent	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	52	100678918	58459745	29	642			1	3		3	3	123	N	G_A	4.216812e-08
MUC17	140453	broad.mit.edu	37	chr7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacccctgggaccacttctGctgaagccacttcatctcct	7	10	7	17	0	3	1	1	1	2	0	4	2	3	2	5	1	2	2	5	1	1	2	rs71286276		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	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)	p.A1431T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACTTCTGCTGAAGCCAC	0.488																																					p.A1431T													MUC17,NS,carcinoma,0,2	MUC17	804	2	1	Substitution - Missense(1)	kidney(1)	c.G4291A												207	222	217					7																	100678988		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTTCTGCTGAAG	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.4291G>A	7.37:g.100678988G>A	ENSP00000302716:p.Ala1431Thr		94	0	0		144	0.04	6	NM_001040105	13	0	0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057377	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.982	-0.425	0.12317	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	9	0.02654	T	1	.	4.4511	0.11621	0.488:0.0:0.512:0.0	.	1431	Q685J3	MUC17_HUMAN	T	1431	ENSP00000302716:A1431T	ENSP00000302716:A1431T	A	+	1	0	MUC17	100465708	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.968000	0.00669	-0.790000	0.04492	-1.616000	0.00795	GCT			0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		A	100678988	G	A	100678988	3	1	10	1	0	0	0	0	1	0	0	0	9990	1319	46	2	4301	2	MUC17	7	100678988	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	70	100678988	58459675	30	643			1	3		3	3	123	N	G_A	4.216812e-08
CUX1	1523	broad.mit.edu	37	chr7	101843351	101843351	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgcaacttctccccacagGtaacatcaccacccggatcc	10	6	7	18	2	2	0	1	0	1	0	4	1	3	1	5	3	2	2	5	3	2	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:101843351G>T	ENST00000292535.7	+	17	1999	c.1961G>T	c.(1960-1962)gGt>gTt	p.G654V	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Splice_Site_p.G632V|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Splice_Site_p.G552V|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000360264.3_Splice_Site_p.G665V	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	654					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						CTCCCCACAGGTAACATCACC	0.552																																					p.G665V													.	CUX1	253		0			c.G1994T												83	84	84					7																	101843351		2203	4300	6503	SO:0001630	splice_region_variant	1523	exon17			CCACAGGTAACAT	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.1961-1G>T	7.37:g.101843351G>T			161	0	0		176	0.03	6	NM_001202543	16	0	0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033158	0.93575	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000546411	T;T;T;T	0.68765	-0.31;-0.28;-0.28;-0.35	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.73962	2.25	0.80722	D	1	D;D	0.64830	0.994;0.993	P;P	0.55391	0.601;0.775	T	0.78097	-0.2337	9	.	.	.	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	654;665	P39880;P39880-3	CUX1_HUMAN;.	V	665;654;632;552	ENSP00000353401:G665V;ENSP00000292535:G654V;ENSP00000446630:G632V;ENSP00000450125:G552V	.	G	+	2	0	CUX1	101630071	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.864000	0.99589	2.744000	0.94065	0.561000	0.74099	GGT			0.552	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000347535.1		NM_001913	Missense_Mutation	T	101843351	G	T	101843351	5	4	10	1	0	0	0	0	0	0	1	0	4066	1275	44	3	2094	3	CUX1	7	101843351	Splice_Site	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	1164363	101843351	57295312	31	644											
SSPO	23145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	149513025	149513025	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggtgcctgactgccCggaccctggggtgtggagct	5	7	17	12	1	0	1	0	1	0	0	0	4	0	4	4	6	3	1	4	6	0	0	rs369846479		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:149513025C>A	ENST00000378016.2	+	0	10928							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)			CCTGACTGCCCGGACCCTGGG	0.672																																					p.P3643Q													.	.			0			c.C10928A												23	28	26					7																	149513025		1957	4137	6094			23145	exon77			ACTGCCCGGACCC	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.149513025C>A			164	0	0		140	0.11	15	NM_198455	2	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						A	149513025	C	A	149513025	1	1	10	0	1	0	0	0	0	0	0	0	15212	652	23	1		1	SSPO	7	149513025	RNA	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	47669674	149513025	9625638	32	645											
TUSC3	7991	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	15517060	15517060	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatgcattttcctccaaaAggcagacctaagagagctga	13	10	8	10	0	1	3	1	1	0	2	3	4	3	3	3	1	2	3	3	1	3	4			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr8:15517060A>G	ENST00000503731.1	+	4	619	c.471A>G	c.(469-471)aaA>aaG	p.K157K	TUSC3_ENST00000382020.4_Silent_p.K157K|TUSC3_ENST00000506802.1_Silent_p.K157K|TUSC3_ENST00000509380.1_Silent_p.K157K|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	157	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCCTCCAAAAGGCAGACCTA	0.373																																					p.K157K													.	.			0			c.A471G												115	107	110					8																	15517060		2203	4300	6503	SO:0001819	synonymous_variant	7991	exon4			TCCAAAAGGCAGA	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.471A>G	8.37:g.15517060A>G			72	0	0		87	0.33	29	NM_178234	387	0.27	103	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	CCDS5994.1																																																																																					0.373	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000365367.1		NM_006765		G	15517060	A	G	15517060	2	3	10	1	0	0	0	0	0	0	0	1	16802	69	3	4		4	TUSC3	8	15517060	Silent	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10		15517060	130846962	33	646											
RRAGA	54801	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	19050445	19050453	+	IGR	DEL	TCGACATCT	TCGACATCT	-																															ttccaacttcgctgctttcaTcgacatcttcacctcaaata																										TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	TCGACATCT	TCGACATCT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr9:19050445_19050453delTCGACATCT	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_In_Frame_Del_p.DIF264del	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						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						GCTGCTTTCATCGACATCTTCACCTCAAA	0.474																																					p.263_265del													.	RRAGA	17		0			c.787_795del																																									SO:0001628	intergenic_variant	10670	exon1			CTTTCATCGACAT	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		9.37:g.19050445_19050453delTCGACATCT			109	0	0		104	0.51	53	NM_006570	168	0	0	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	In_Frame_Del	DEL	ENST00000380502.3	37	CCDS6489.1																																																																																					0.474	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051825.1		NM_017645		-	19050453	TCGACATCT	-	19050445	6	5	10	0	1	1	0	1	0	0	0	0	13695	1435	50	0		0	RRAGA	9	19050445	IGR	DEL	TCGACATCT	TCGA-2G-AAFJ-01A-11D-A42Y-10		19050445	122162986	34	647											
FBXW5	54461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139835465	139835465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcatggtgcgtggggagCgccaggctttgatggtggcg	4	8	20	9	5	0	1	0	1	0	0	0	2	0	2	1	6	2	2	1	6	0	1	rs140846203		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr9:139835465C>T	ENST00000325285.3	-	9	1695	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	539					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCGTGGGGAGCGCCAGGCTTT	0.667																																					p.R539H													FBXW5,NS,carcinoma,-1,1	FBXW5	-1	1	0			c.G1616A							C	HIS/ARG	0,4290		0,0,2145	69	61	64		1616	4.6	1	9	dbSNP_134	64	1,8453		0,1,4226	no	missense	FBXW5	NM_018998.2	29	0,1,6371	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	539/567	139835465	1,12743	2145	4227	6372	SO:0001583	missense	54461	exon9			GGGGAGCGCCAGG	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1616G>A	9.37:g.139835465C>T	ENSP00000313034:p.Arg539His		66	0	0		92	0.3	28	NM_018998	298	0.32	94	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874046	0.91664	0.0	1.18E-4	ENSG00000159069	ENST00000325285	T	0.66638	-0.22	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.063203	0.64402	D	0.000004	T	0.74764	0.3759	L	0.38649	1.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.945	T	0.77661	-0.2504	10	0.62326	D	0.03	-0.5139	16.0315	0.80582	0.0:1.0:0.0:0.0	.	404;539	Q59ET5;Q969U6	.;FBXW5_HUMAN	H	539	ENSP00000313034:R539H	ENSP00000313034:R539H	R	-	2	0	FBXW5	138955286	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	7.109000	0.77062	2.126000	0.65437	0.561000	0.74099	CGC	0		0.667	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055227.1		NM_018998		T	139835465	C	T	139835465	3	4	10	1	0	0	0	0	1	0	0	0	5781	768	27	1	88	1	FBXW5	9	139835465	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	120785020	139835465	1377966	35	648											
CCAR1	55749	broad.mit.edu	37	chr10	70516152	70516152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcattgccttcccacccGctcagagtgggaaaccctct	7	10	9	15	1	2	1	1	0	1	1	3	2	3	2	4	2	2	2	4	2	1	3	rs142459122		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:70516152G>A	ENST00000265872.6	+	14	1867	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	CCAR1_ENST00000535016.1_Missense_Mutation_p.R568H|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR|MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000543719.1_Missense_Mutation_p.R568H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	583					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTTCCCACCCGCTCAGAGTGG	0.557																																					p.R583H													.	CCAR1	118		0			c.G1748A							G	HIS/ARG	0,4406		0,0,2203	115	112	113		1748	5.3	1	10	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCAR1	NM_018237.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	583/1151	70516152	1,13005	2203	4300	6503	SO:0001583	missense	55749	exon14			CCACCCGCTCAGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1748G>A	10.37:g.70516152G>A	ENSP00000265872:p.Arg583His		157	0	0		155	0.03	4	NM_018237	98	0	0	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985880	0.53934	0.0	1.16E-4	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.85130	0.984;0.997;0.902	T	0.60244	-0.7301	10	0.33141	T	0.24	-3.7362	18.9513	0.92642	0.0:0.0:1.0:0.0	.	568;583;557	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	583;568;568;568;557;388	ENSP00000265872:R583H;ENSP00000441820:R568H;ENSP00000445254:R568H;ENSP00000439252:R568H;ENSP00000438610:R557H;ENSP00000439642:R388H	ENSP00000265872:R583H	R	+	2	0	CCAR1	70186158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.773000	0.98989	2.488000	0.83962	0.585000	0.79938	CGC			0.557	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048356.2		NM_018237		A	70516152	G	A	70516152	3	1	10	1	0	0	0	0	1	0	0	0	2732	1087	38	1	1798	1	CCAR1	10	70516152	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10		70516152	65018595	36	649											
ZNF503	84858	broad.mit.edu	37	chr10	77159836	77159836	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgacttctccgacgaaacAcccccgccgccgcccccgcc	6	3	7	25	7	1	0	0	0	1	0	2	3	1	0	9	0	1	0	9	0	1	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:77159836A>C	ENST00000372524.4	-	2	1098	c.612T>G	c.(610-612)ggT>ggG	p.G204G	ZNF503_ENST00000535216.1_Silent_p.G204G|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503-AS2_ENST00000486015.1_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	204	Gly-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)					CCGACGAAACACCCccgccgc	0.697																																					p.G204G													.	ZNF503	25		0			c.T612G												3	3	3					10																	77159836		1706	3384	5090	SO:0001819	synonymous_variant	84858	exon2			CGAAACACCCCCG	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.612T>G	10.37:g.77159836A>C			60	0.2333333333	14		50	0.22	11	NM_032772	6	0	0	Q8NAC5|Q96E25|Q96IJ0	Silent	SNP	ENST00000372524.4	37	CCDS7350.1																																																																																					0.697	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048826.1		NM_032772		C	77159836	A	C	77159836	2	2	10	1	0	0	0	0	0	0	0	1	17974	146	6	4		4	ZNF503	10	77159836	Silent	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10	6643684	77159836	58374911	37	650											
CWF19L1	55280	broad.mit.edu	37	chr10	101997853	101997853	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgactcttaaagaaccGtctcagagtggccttatact	10	11	7	13	2	2	2	1	0	2	2	4	3	2	2	3	1	2	0	3	1	5	3	rs372238581		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:101997853G>T	ENST00000354105.4	-	11	1266	c.1180C>A	c.(1180-1182)Cgg>Agg	p.R394R	SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Silent_p.R149R	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	394							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TTAAAGAACCGTCTCAGAGTG	0.468																																					p.R394R													.	CWF19L1	39		0			c.C1180A												206	187	193					10																	101997853		2203	4300	6503	SO:0001819	synonymous_variant	55280	exon11			AGAACCGTCTCAG	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1180C>A	10.37:g.101997853G>T			206	0	0		226	0.02	5	NM_018294	75	0	0	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	37	CCDS7489.1																																																																																					0.468	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_018294		T	101997853	G	T	101997853	2	4	10	1	0	0	0	0	0	0	0	1	4073	1144	40	1		1	CWF19L1	10	101997853	Silent	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	24838017	101997853	33536894	38	651											
PKD2L1	9033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	102052770	102052770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctgcaggaccttctgCacatccgaaaccctctcctt	8	9	5	19	1	2	0	0	0	2	0	4	2	3	1	6	1	3	2	6	1	1	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:102052770C>T	ENST00000318222.3	-	11	2197	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	PKD2L1_ENST00000338519.3_Silent_p.V530V|PKD2L1_ENST00000353274.3_Silent_p.V605V	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	605					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGACCTTCTGCACATCCGAAA	0.512																																					p.V605V													.	.			0			c.G1815A												150	124	133					10																	102052770		2203	4300	6503	SO:0001819	synonymous_variant	9033	exon11			CTTCTGCACATCC	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1815G>A	10.37:g.102052770C>T			227	0	0		223	0.27	61	NM_016112	0		0	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	CCDS7492.1																																																																																					0.512	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049863.2		NM_016112		T	102052770	C	T	102052770	2	4	10	1	0	0	0	0	0	0	0	1	11984	697	25	2		2	PKD2L1	10	102052770	Silent	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	54917	102052770	33481977	39	652											
BAG3	9531	broad.mit.edu	37	chr10	121432017	121432017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccacaagatccagggggAtgactgggagccccggcccc	9	4	14	14	1	0	2	0	1	0	1	1	4	1	4	6	4	2	1	6	4	2	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:121432017A>G	ENST00000369085.3	+	3	1064	c.758A>G	c.(757-759)gAt>gGt	p.D253G		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	253					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ATCCAGGGGGATGACTGGGAG	0.677																																					p.D253G													.	BAG3	42		0			c.A758G												60	64	63					10																	121432017		2203	4300	6503	SO:0001583	missense	9531	exon3			AGGGGGATGACTG	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.758A>G	10.37:g.121432017A>G	ENSP00000358081:p.Asp253Gly		114	0.0087719298	1		165	0.02	4	NM_004281	77	0	0	A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.934791	0.92458	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;D	0.81499	-1.22;-1.5	6.04	6.04	0.98038	.	0.239745	0.42053	D	0.000777	D	0.84106	0.5399	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	D	0.84197	0.0448	10	0.44086	T	0.13	-18.6371	16.5885	0.84745	1.0:0.0:0.0:0.0	.	253;253	O95817;Q53GY1	BAG3_HUMAN;.	G	253;195	ENSP00000358081:D253G;ENSP00000410036:D195G	ENSP00000358081:D253G	D	+	2	0	BAG3	121422007	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	6.845000	0.75394	2.317000	0.78254	0.460000	0.39030	GAT			0.677	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050662.1		NM_004281		G	121432017	A	G	121432017	3	3	10	1	0	0	0	0	1	0	0	0	1288	333	12	4	768	4	BAG3	10	121432017	Missense_Mutation	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10	19379247	121432017	14102730	40	653											
MUC6	4588	bcgsc.ca	37	chr11	1016801	1016801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgggaagtgtggtctgaggGtgtgatggggttggataggt	6	12	22	1	0	1	2	0	2	1	0	1	4	1	4	0	7	0	1	0	7	2	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:1016801G>C	ENST00000421673.2	-	31	6050	c.6000C>G	c.(5998-6000)caC>caG	p.H2000Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2000	Thr-rich.				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)		TGGTCTGAGGGTGTGATGGGG	0.542																																					p.H2000Q													.	MUC6	408		0			c.C6000G												1371	1357	1362					11																	1016801		2203	4297	6500	SO:0001583	missense	4588	exon31			CTGAGGGTGTGAT	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.6000C>G	11.37:g.1016801G>C	ENSP00000406861:p.His2000Gln		453	0.0198675497	9		393	0.05	19	NM_005961	11	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524518	0.13066	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.76	-5.51	0.02568	.	.	.	.	.	T	0.10337	0.0253	L	0.50333	1.59	0.09310	N	1	B	0.27625	0.183	B	0.21708	0.036	T	0.29610	-1.0006	9	0.27082	T	0.32	.	1.062	0.01603	0.2629:0.2888:0.3017:0.1467	.	2000	Q6W4X9	MUC6_HUMAN	Q	2000	ENSP00000406861:H2000Q	ENSP00000406861:H2000Q	H	-	3	2	MUC6	1006801	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.904000	0.04080	-1.588000	0.01627	0.306000	0.20318	CAC			0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		C	1016801	G	C	1016801	3	2	10	1	0	0	0	0	1	0	0	0	9996	1252	44	5	1331	5	MUC6	11	1016801	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10		1016801	133989715	41	654											
MUC6	4588	bcgsc.ca	37	chr11	1017824	1017824	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtggaccctgtggccttGagcgttgtcggtggaggaat	5	11	18	7	2	0	1	0	1	0	0	1	4	0	4	2	6	1	1	2	6	1	2	rs201767599		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:1017824G>C	ENST00000421673.2	-	31	5027	c.4977C>G	c.(4975-4977)ctC>ctG	p.L1659L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1659	Approximate repeats.|Pro-rich.|Thr-rich.				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)		CTGTGGCCTTGAGCGTTGTCG	0.562																																					p.L1659L													.	MUC6	408		0			c.C4977G												672	647	656					11																	1017824		2201	4297	6498	SO:0001819	synonymous_variant	4588	exon31			GGCCTTGAGCGTT	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.4977C>G	11.37:g.1017824G>C			317	0.0157728707	5		311	0.06	20	NM_005961	3	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																					0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		C	1017824	G	C	1017824	2	2	10	1	0	0	0	0	0	0	0	1	9996	1277	45	5		5	MUC6	11	1017824	Silent	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	1023	1017824	133988692	42	655											
MUC2	4583	mdanderson.org	37	chr11	1093293	1093293	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacacccatcaccaccacCactacggtgaccccaacccc	11	4	4	22	2	1	1	1	1	0	0	2	2	1	1	8	1	2	0	8	1	2	1	rs200837746		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:1093293C>G	ENST00000441003.2	+	30	5139	c.5112C>G	c.(5110-5112)acC>acG	p.T1704T	MUC2_ENST00000359061.5_Silent_p.T1671T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	tcaccaccaccactacggtga	0.637																																					p.T1704T													.	.			0			c.C5112G												107	155	138					11																	1093293		1879	3458	5337	SO:0001819	synonymous_variant	4583	exon30			CACCACCACTACG	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.5112C>G	11.37:g.1093293C>G			31	0	0		26	0.12	3	NM_002457	9	0.11	1	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		G	1093293	C	G	1093293	2	3	10	1	0	0	0	0	0	0	0	1	9991	581	21	5		5	MUC2	11	1093293	Silent	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	75469	1093293	133913223	43	656											
CTSD	1509	mdanderson.org	37	chr11	1775285	1775285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcgcacctcatccaccGggcccaccatgagggaagtg	8	5	12	16	3	1	1	1	1	0	0	3	2	2	2	5	2	0	2	5	2	1	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:1775285G>A	ENST00000236671.2	-	7	1043	c.911C>T	c.(910-912)cCg>cTg	p.P304L	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R175W	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	304					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTCATCCACCGGGCCCACCAT	0.711																																					p.P304L													.	.			0			c.C911T												49	36	41					11																	1775285		2201	4298	6499	SO:0001583	missense	1509	exon7			TCCACCGGGCCCA	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.911C>T	11.37:g.1775285G>A	ENSP00000236671:p.Pro304Leu		52	0	0		43	0.09	4	NM_001909	549	0	0	Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.25|19.25	3.790985|3.790985	0.70452|0.70452	.|.	.|.	ENSG00000117984|ENSG00000250644	ENST00000236671;ENST00000429746;ENST00000438213|ENST00000427721	T;T;T|.	0.69806|.	-0.43;0.1;0.1|.	4.25|4.25	4.25|4.25	0.50352|0.50352	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.110733|.	0.64402|.	D|.	0.000006|.	D|D	0.91270|0.91270	0.7248|0.7248	H|H	0.99498|0.99498	4.595|4.595	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.95288|0.95288	0.8392|0.8392	10|5	0.87932|.	D|.	0|.	.|.	17.2119|17.2119	0.86932|0.86932	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	304|.	P07339|.	CATD_HUMAN|.	L|W	304;81;289|175	ENSP00000236671:P304L;ENSP00000402586:P81L;ENSP00000415036:P289L|.	ENSP00000236671:P304L|.	P|R	-|-	2|1	0|2	CTSD|RP11-295K3.1	1731861|1731861	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.121000|0.121000	0.20230|0.20230	7.271000|7.271000	0.78506|0.78506	2.378000|2.378000	0.81104|0.81104	0.462000|0.462000	0.41574|0.41574	CCG|CGG			0.711	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000104272.5		NM_001909		A	1775285	G	A	1775285	3	1	10	1	0	0	0	0	1	0	0	0	4034	1116	39	1	339	1	CTSD	11	1775285	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	681992	1775285	133231231	44	657											
PACS1	55690	broad.mit.edu;mdanderson.org	37	chr11	66001320	66001320	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaggccagagctacCtgagctccatcctcaggttc	7	9	12	13	0	1	2	1	1	0	1	4	3	3	3	4	3	3	3	4	3	1	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:66001320C>G	ENST00000320580.4	+	16	1936	c.1903C>G	c.(1903-1905)Ctg>Gtg	p.L635V	PACS1_ENST00000529757.1_Missense_Mutation_p.L171V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	635					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						CCAGAGCTACCTGAGCTCCAT	0.592																																					p.L635V													.	PACS1	71		0			c.C1903G												95	76	82					11																	66001320		2200	4295	6495	SO:0001583	missense	55690	exon16			AGCTACCTGAGCT	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.1903C>G	11.37:g.66001320C>G	ENSP00000316454:p.Leu635Val		117	0	0		75	0.05	4	NM_018026	48	0.04	2	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384238	0.82792	.	.	ENSG00000175115	ENST00000320580;ENST00000529757;ENST00000528935	T;T;T	0.50548	0.74;0.74;0.74	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.64338	0.2589	L	0.58583	1.82	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.59177	-0.7503	10	0.27082	T	0.32	-18.3349	17.021	0.86433	0.0:1.0:0.0:0.0	.	635	Q6VY07	PACS1_HUMAN	V	635;171;16	ENSP00000316454:L635V;ENSP00000432858:L171V;ENSP00000437052:L16V	ENSP00000316454:L635V	L	+	1	2	PACS1	65757896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.935000	0.70145	2.551000	0.86045	0.655000	0.94253	CTG			0.592	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391690.2		NM_018026		G	66001320	C	G	66001320	3	3	10	1	0	0	0	0	1	0	0	0	11389	680	24	5	1965	5	PACS1	11	66001320	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	64226035	66001320	69005196	45	658											
TAF1D	79101	broad.mit.edu	37	chr11	93469897	93469897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcgttatcttcaagatgtGttgcatcctcatcctctgct	7	17	6	11	1	4	1	2	0	2	1	7	1	6	1	2	0	2	4	2	0	2	4			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:93469897G>T	ENST00000448108.2	-	5	1306	c.656C>A	c.(655-657)aCa>aAa	p.T219K	MIR1304_ENST00000408243.1_RNA|SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	219					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TTCAAGATGTGTTGCATCCTC	0.348																																					p.T219K													.	TAF1D	18		0			c.C656A												123	123	123					11																	93469897		2200	4298	6498	SO:0001583	missense	79101	exon5			AGATGTGTTGCAT		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.656C>A	11.37:g.93469897G>T	ENSP00000410409:p.Thr219Lys		377	0	0		317	0.02	6	NM_024116	98	0	0	Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	G	6.861	0.528265	0.13127	.	.	ENSG00000166012	ENST00000448108	.	.	.	4.32	0.08	0.14418	.	1.817120	0.03170	N	0.170638	T	0.29783	0.0744	L	0.43152	1.355	0.09310	N	1	P	0.47910	0.902	B	0.43301	0.415	T	0.16600	-1.0397	9	0.12430	T	0.62	-29.7996	4.7452	0.13033	0.1891:0.0:0.5175:0.2934	.	219	Q9H5J8	TAF1D_HUMAN	K	219	.	ENSP00000314971:T219K	T	-	2	0	TAF1D	93109545	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	0.227000	0.17795	-0.178000	0.10672	-1.491000	0.00971	ACA			0.348	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394662.2		NM_024116		T	93469897	G	T	93469897	3	4	10	1	0	0	0	0	1	0	0	0	15545	1377	48	3	188	3	TAF1D	11	93469897	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	27468577	93469897	41536619	46	659											
SCN4B	6330	broad.mit.edu	37	chr11	118015783	118015783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatacttacaatcttgaatgCgtcactgctgttgtaggtcc	10	14	8	9	1	2	1	1	1	1	0	3	1	3	1	1	1	4	3	1	1	6	5			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:118015783C>T	ENST00000324727.4	-	2	369	c.223G>A	c.(223-225)Gca>Aca	p.A75T	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	75	Ig-like C2-type.				AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|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)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	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)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCTTGAATGCGTCACTGCTG	0.567											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A75T													.	SCN4B	18		0			c.G223A												263	245	251					11																	118015783		2200	4296	6496	SO:0001583	missense	6330	exon2			TGAATGCGTCACT	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10592	protein-coding gene	gene with protein product		608256	"sodium channel, voltage-gated, type IV, beta"				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.223G>A	11.37:g.118015783C>T	ENSP00000322460:p.Ala75Thr		164	0	0	1485	129	0.03	4	NM_174934	5	0	0	E9PPT5|Q6PIG5	Missense_Mutation	SNP	ENST00000324727.4	37	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	C	2.220	-0.378623	0.05000	.	.	ENSG00000177098	ENST00000324727	D	0.94330	-3.4	5.23	-1.92	0.07618	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499150	0.20752	N	0.086335	T	0.69115	0.3075	N	0.00583	-1.355	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.68788	-0.5316	10	0.11794	T	0.64	-9.0824	3.2558	0.06831	0.3544:0.3725:0.0:0.2731	.	75	Q8IWT1	SCN4B_HUMAN	T	75	ENSP00000322460:A75T	ENSP00000322460:A75T	A	-	1	0	SCN4B	117520993	0.008000	0.16893	0.000000	0.03702	0.021000	0.10359	0.508000	0.22692	-0.268000	0.09312	-0.484000	0.04775	GCA			0.567	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392326.1				T	118015783	C	T	118015783	3	4	10	1	0	0	0	0	1	0	0	0	13944	768	27	1	479	1	SCN4B	11	118015783	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	24545886	118015783	16990733	47	660											
CD69	969	broad.mit.edu	37	chr12	9907234	9907234	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatgggtgaccaggttccTttttcagtccaacccagtgt	7	13	9	12	0	1	1	1	1	0	0	4	1	4	1	5	2	1	1	5	2	1	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:9907234T>C	ENST00000228434.3	-	4	520	c.440A>G	c.(439-441)aAg>aGg	p.K147R	CD69_ENST00000536709.1_Missense_Mutation_p.K147R	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	147	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						ACCAGGTTCCTTTTTCAGTCC	0.433																																					p.K147R													.	CD69	23		0			c.A440G												220	222	221					12																	9907234		2203	4300	6503	SO:0001583	missense	969	exon4			GGTTCCTTTTTCA	Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"C-type lectin domain containing", "CD molecules"	1694	protein-coding gene	gene with protein product		107273	"CD69 antigen (p60, early T-cell activation antigen)"			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.440A>G	12.37:g.9907234T>C	ENSP00000228434:p.Lys147Arg		236	0	0		610	0.01	4	NM_001781	3	0	0		Missense_Mutation	SNP	ENST00000228434.3	37	CCDS8604.1	.	.	.	.	.	.	.	.	.	.	T	4.032	0.003466	0.07866	.	.	ENSG00000110848	ENST00000228434;ENST00000536709	T;T	0.19250	2.16;2.16	5.4	5.4	0.78164	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.687564	0.14626	N	0.308105	T	0.09818	0.0241	N	0.02973	-0.45	0.27725	N	0.945008	B	0.31611	0.331	B	0.32762	0.152	T	0.23119	-1.0197	9	.	.	.	-4.831	11.73	0.51730	0.0:0.0:0.0:1.0	.	147	Q07108	CD69_HUMAN	R	147	ENSP00000228434:K147R;ENSP00000442597:K147R	.	K	-	2	0	CD69	9798501	0.055000	0.20627	0.711000	0.30485	0.605000	0.37080	1.222000	0.32515	2.266000	0.75297	0.533000	0.62120	AAG			0.433	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399876.1				C	9907234	T	C	9907234	3	2	10	1	0	0	0	0	1	0	0	0	3033	1609	56	4	167	4	CD69	12	9907234	Missense_Mutation	SNP	T	TCGA-2G-AAFJ-01A-11D-A42Y-10		9907234	123944661	48	661											
C12orf36	283422	broad.mit.edu	37	chr12	13526327	13526327	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaatgtgtctacgagCgctctgactcttccagggaa	10	9	11	11	2	3	2	0	1	3	1	4	4	4	3	1	1	3	2	1	1	3	2	rs146660868		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:13526327C>G	ENST00000318426.2	-	3	445	c.228G>C	c.(226-228)gcG>gcC	p.A76A	C12orf36_ENST00000527705.2_Silent_p.A76A|C12orf36_ENST00000531049.1_5'Flank					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TGTCTACGAGCGCTCTGACTC	0.473																																					.													.	C12orf36	17		0			.												86	87	86					12																	13526327		2203	4300	6503	SO:0001819	synonymous_variant	283422	.			TACGAGCGCTCTG	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.228G>C	12.37:g.13526327C>G			180	0	0		556	0.01	8	.	0		0		Silent	SNP	ENST00000318426.2	37																																																																																						0.473	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000395025.2		NM_182558		G	13526327	C	G	13526327	2	3	10	1	0	0	0	0	0	0	0	1	1685	755	27	5		5	C12orf36	12	13526327	Silent	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	3619093	13526327	120325568	49	662											
GYS2	2998	broad.mit.edu	37	chr12	21693436	21693436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgactgtttgcaaaatcCatagagaaacttagtcagct	13	11	9	8	1	1	2	1	1	0	1	2	3	2	2	1	0	3	3	1	0	5	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:21693436C>T	ENST00000261195.2	-	14	1971	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	573					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						TTGCAAAATCCATAGAGAAAC	0.443																																					p.G573R	Colon(149;9 1820 3690 10544 50424)												.	GYS2	110		0			c.G1717A												135	139	137					12																	21693436		2203	4300	6503	SO:0001583	missense	2998	exon14			AAAATCCATAGAG		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.1717G>A	12.37:g.21693436C>T	ENSP00000261195:p.Gly573Arg		127	0	0		321	0.02	7	NM_021957	2	0	0	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053477	0.55218	.	.	ENSG00000111713	ENST00000261195	T	0.63255	-0.03	5.1	4.21	0.49690	.	0.581072	0.18773	N	0.131549	T	0.52597	0.1744	N	0.11427	0.14	0.35571	D	0.80547	B	0.30727	0.292	P	0.45794	0.493	T	0.61869	-0.6974	10	0.40728	T	0.16	-8.191	9.8795	0.41225	0.0:0.8442:0.0:0.1558	.	573	P54840	GYS2_HUMAN	R	573	ENSP00000261195:G573R	ENSP00000261195:G573R	G	-	1	0	GYS2	21584703	0.638000	0.27225	1.000000	0.80357	0.986000	0.74619	1.548000	0.36201	1.364000	0.46038	0.650000	0.86243	GGA			0.443	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402396.1		NM_021957		T	21693436	C	T	21693436	3	4	10	1	0	0	0	0	1	0	0	0	6928	603	21	3	406	3	GYS2	12	21693436	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	8167109	21693436	112158459	50	663											
YARS2	51067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	32908276	32908276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaccaggtgctgcttcTggtaccaggccgagttgtcc	6	10	12	13	1	1	0	0	0	1	0	3	1	3	0	5	3	3	4	5	3	1	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:32908276T>C	ENST00000324868.8	-	1	560	c.533A>G	c.(532-534)cAg>cGg	p.Q178R		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	178					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GTGCTGCTTCTGGTACCAGGC	0.657											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q178R													.	.			0			c.A533G												49	51	50					12																	32908276		2203	4300	6503	SO:0001583	missense	51067	exon1			TGCTTCTGGTACC	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.533A>G	12.37:g.32908276T>C	ENSP00000320658:p.Gln178Arg		172	0	0	836	396	0.14	54	NM_001040436	88	0.08	7	D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295195	0.23564	.	.	ENSG00000139131	ENST00000324868	T	0.52526	0.66	4.91	2.45	0.29901	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.671910	0.15442	N	0.262162	T	0.22205	0.0535	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13098	-1.0522	10	0.62326	D	0.03	-13.1742	4.5109	0.11910	0.0:0.2808:0.2817:0.4375	.	178	Q9Y2Z4	SYYM_HUMAN	R	178	ENSP00000320658:Q178R	ENSP00000320658:Q178R	Q	-	2	0	YARS2	32799543	0.071000	0.21146	0.522000	0.27862	0.989000	0.77384	0.617000	0.24359	0.879000	0.35944	0.524000	0.50904	CAG			0.657	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404153.1		NM_015936		C	32908276	T	C	32908276	3	2	10	1	0	0	0	0	1	0	0	0	17492	1580	55	4	920	4	YARS2	12	32908276	Missense_Mutation	SNP	T	TCGA-2G-AAFJ-01A-11D-A42Y-10	11214840	32908276	100943619	51	664											
KRT3	3850	mdanderson.org	37	chr12	53189775	53189775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccacagcagagcggcCggagaaaccctggctcccgc	10	2	14	15	3	0	3	0	0	0	3	1	5	1	3	4	4	3	2	4	4	1	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:53189775C>A	ENST00000417996.2	-	1	126	c.52G>T	c.(52-54)Ggc>Tgc	p.G18C	KRT3_ENST00000309505.3_Missense_Mutation_p.G18C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	18	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCAGAGCGGCCGGAGAAACCC	0.622																																					p.G18C													.	.			0			c.G52T												26	33	31					12																	53189775		2202	4299	6501	SO:0001583	missense	3850	exon1			AGCGGCCGGAGAA		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.52G>T	12.37:g.53189775C>A	ENSP00000413479:p.Gly18Cys		53	0	0		41	0.07	3	NM_057088	0		0	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670788	0.29693	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.82893	-1.66;-1.66	5.17	3.3	0.37823	.	0.000000	0.47852	D	0.000216	T	0.75436	0.3849	L	0.49455	1.56	0.28078	N	0.932313	B	0.33238	0.403	B	0.32805	0.153	T	0.69446	-0.5143	10	0.62326	D	0.03	.	6.36	0.21422	0.392:0.5193:0.0:0.0886	.	18	P12035	K2C3_HUMAN	C	18	ENSP00000413479:G18C;ENSP00000312206:G18C	ENSP00000312206:G18C	G	-	1	0	KRT3	51476042	0.001000	0.12720	0.323000	0.25347	0.947000	0.59692	0.061000	0.14366	0.651000	0.30788	0.561000	0.74099	GGC			0.622	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405930.1		NM_057088		A	53189775	C	A	53189775	3	1	10	1	0	0	0	0	1	0	0	0	8481	652	23	1	1870	1	KRT3	12	53189775	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	20281499	53189775	80662120	52	665											
N4BP2L1	90634	mdanderson.org	37	chr13	32981884	32981884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccgtgctgaaaatcagggCcctgggaaagtcatgctgca	11	8	12	10	1	2	1	2	1	0	0	3	2	3	2	2	2	3	3	2	2	3	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr13:32981884C>T	ENST00000380133.2	-	2	255	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	N4BP2L1_ENST00000530622.2_5'UTR|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.A69T|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.A69T|N4BP2L1_ENST00000459716.1_5'UTR			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	69										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AAAATCAGGGCCCTGGGAAAG	0.408																																					p.A69T													.	.			0			c.G205A												115	112	113					13																	32981884		1839	4088	5927	SO:0001583	missense	90634	exon2			TCAGGGCCCTGGG	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.205G>A	13.37:g.32981884C>T	ENSP00000369476:p.Ala69Thr		73	0	0		43	0.07	3	NM_052818	10	0	0	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380133.2	37	CCDS9345.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.97|18.97	3.734943|3.734943	0.69189|0.69189	.|.	.|.	ENSG00000139597|ENSG00000139597	ENST00000380130;ENST00000380139;ENST00000380133|ENST00000343281	T;T;T|.	0.46451|.	0.87;0.87;0.87|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Zeta toxin domain (1);|.	0.083310|.	0.50627|.	D|.	0.000118|.	T|T	0.58821|0.58821	0.2149|0.2149	L|L	0.28740|0.28740	0.885|0.885	0.80722|0.80722	D|D	1|1	D;B;D|.	0.89917|.	1.0;0.34;1.0|.	D;B;D|.	0.91635|.	0.999;0.113;0.986|.	T|T	0.52968|0.52968	-0.8504|-0.8504	10|5	0.54805|.	T|.	0.06|.	.|.	19.2703|19.2703	0.94006|0.94006	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	46;69;69|.	Q5TBJ9;Q5TBK1-2;Q5TBK1|.	.;.;N42L1_HUMAN|.	T|D	69|46	ENSP00000369473:A69T;ENSP00000369484:A69T;ENSP00000369476:A69T|.	ENSP00000369473:A69T|.	A|G	-|-	1|2	0|0	N4BP2L1|N4BP2L1	31879884|31879884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.076000|6.076000	0.71267|0.71267	2.566000|2.566000	0.86566|0.86566	0.556000|0.556000	0.70494|0.70494	GCC|GGC			0.408	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000044412.2		NM_052818		T	32981884	C	T	32981884	3	4	10	1	0	0	0	0	1	0	0	0	10127	739	26	2	615	2	N4BP2L1	13	32981884	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10		32981884	82187994	53	666											
DCLK1	9201	mdanderson.org	37	chr13	36700232	36700232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatctctgcgccttatcccGctcgtcgaagtgctccagct	5	12	9	15	4	1	0	0	0	1	0	6	1	3	0	3	0	3	4	3	0	3	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr13:36700232G>A	ENST00000360631.3	-	2	254	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	DCLK1_ENST00000255448.4_Missense_Mutation_p.R15W|DCLK1_ENST00000379892.4_Missense_Mutation_p.R15W			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	15					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCCTTATCCCGCTCGTCGAAG	0.597																																					p.R15W													.	.			0			c.C43T												60	62	61					13																	36700232		2203	4300	6503	SO:0001583	missense	9201	exon2			TATCCCGCTCGTC	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.43C>T	13.37:g.36700232G>A	ENSP00000353846:p.Arg15Trp		45	0	0		35	0.09	3	NM_004734	5	0	0	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	G	25.8	4.676152	0.88445	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.75704	-0.95;-0.96;0.77	5.67	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	M	0.65498	2.005	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.85975	0.1479	10	0.87932	D	0	.	13.8416	0.63441	0.0:0.0:0.7221:0.2779	.	15	O15075-2	.	W	15	ENSP00000255448:R15W;ENSP00000353846:R15W;ENSP00000369222:R15W	ENSP00000255448:R15W	R	-	1	2	DCLK1	35598232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.450000	0.66626	1.395000	0.46643	0.655000	0.94253	CGG			0.597	DCLK1-010	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000044487.1		NM_004734		A	36700232	G	A	36700232	3	1	10	1	0	0	0	0	1	0	0	0	4293	1086	38	1	2214	1	DCLK1	13	36700232	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	3718348	36700232	78469646	54	667											
CARS2	79587	mdanderson.org	37	chr13	111299558	111299558	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagcagctgctgagcttgGagcatggcgctgtcactgta	8	9	15	9	1	1	1	1	1	0	0	1	3	1	3	0	3	5	7	0	3	1	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr13:111299558G>T	ENST00000257347.4	-	11	1146	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	361					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCTGAGCTTGGAGCATGGCGC	0.637																																					p.L361L													.	.			0			c.C1083A												76	57	64					13																	111299558		2203	4300	6503	SO:0001819	synonymous_variant	79587	exon11			AGCTTGGAGCATG	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1083C>A	13.37:g.111299558G>T			58	0	0		37	0.08	3	NM_024537	70	0	0	Q8NI84|Q96IV4	Silent	SNP	ENST00000257347.4	37	CCDS9514.1																																																																																					0.637	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045772.3		NM_024537		T	111299558	G	T	111299558	2	4	10	1	0	0	0	0	0	0	0	1	2660	1161	41	3		3	CARS2	13	111299558	Silent	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	74599326	111299558	3870320	55	668											
MLH3	27030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	75508402	75508402	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaacagtatcatccacagtAtctagggcaaaagggaacag	16	7	9	9	0	2	0	1	0	1	0	3	1	3	1	1	2	2	3	1	2	7	4			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr14:75508402A>G	ENST00000556740.1	-	3	3416	c.3381T>C	c.(3379-3381)gaT>gaC	p.D1127D	MLH3_ENST00000238662.7_Splice_Site_p.D1127D|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000380968.2_Splice_Site_p.D73D|MLH3_ENST00000355774.2_Splice_Site_p.D1127D|MLH3_ENST00000544985.1_Splice_Site_p.D122D|MLH3_ENST00000556257.1_Intron			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1127					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)		CATCCACAGTATCTAGGGCAA	0.478								Mismatch excision repair (MMR)																													p.D1127D													.	.			0			c.T3381C												113	96	102					14																	75508402		2203	4300	6503	SO:0001630	splice_region_variant	27030	exon4			CACAGTATCTAGG	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.3380-1T>C	14.37:g.75508402A>G			84	0	0		112	0.22	25	NM_014381	38	0.26	10	P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	A	8.411	0.844263	0.16963	.	.	ENSG00000119684	ENST00000553713	.	.	.	6.04	4.9	0.64082	.	.	.	.	.	T	0.62490	0.2432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59925	-0.7362	4	.	.	.	.	10.595	0.45331	0.9281:0.0:0.0719:0.0	.	.	.	.	T	151	.	.	I	-	2	0	MLH3	74578155	0.948000	0.32251	0.906000	0.35671	0.369000	0.29798	2.089000	0.41672	1.120000	0.41904	0.459000	0.35465	ATA			0.478	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415006.1		NM_014381	Silent	G	75508402	A	G	75508402	5	3	10	1	0	0	0	0	0	0	1	0	9634	463	16	4	1020	4	MLH3	14	75508402	Splice_Site	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10		75508402	31841138	56	669											
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr16	30748508	30748508	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcacccaccggcgcagtAaaaaggccaaagcccctgag	13	2	12	14	2	0	1	0	1	0	0	0	2	0	1	5	3	1	3	5	3	4	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr16:30748508A>T	ENST00000262518.4	+	34	7532	c.7147A>T	c.(7147-7149)Aaa>Taa	p.K2383*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.K2225*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.K2321*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2383					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)			CCGGCGCAGTAAAAAGGCCAA	0.637																																					p.K2383X													.	.			0			c.A7147T												41	45	44					16																	30748508		2197	4300	6497	SO:0001587	stop_gained	10847	exon34			CGCAGTAAAAAGG	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.7147A>T	16.37:g.30748508A>T	ENSP00000262518:p.Lys2383*		104	0	0		89	0.13	12	NM_006662	78	0.13	10	B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	46	12.225050	0.99648	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.8	4.8	0.61643	.	0.000000	0.48767	D	0.000179	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8476	13.5298	0.61615	1.0:0.0:0.0:0.0	.	.	.	.	X	2383;2321;2225	.	ENSP00000262518:K2383X	K	+	1	0	SRCAP	30656009	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.458000	0.60095	2.034000	0.60081	0.456000	0.33151	AAA			0.637	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255523.1		NM_006662		T	30748508	A	T	30748508	4	4	10	1	0	0	0	0	0	1	0	0	15158	363	13	5	7273	5	SRCAP	16	30748508	Nonsense_Mutation	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10		30748508	59606245	57	670											
FAM101B	359845	broad.mit.edu	37	chr17	295717	295717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccgggagccagggggAgagacgctggactcttcaag	10	4	16	11	2	2	1	1	0	1	1	2	5	2	4	2	4	2	1	2	4	1	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:295717A>G	ENST00000329099.4	-	1	13	c.14T>C	c.(13-15)cTc>cCc	p.L5P		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	75					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)		AGCCAGGGGGAGAGACGCTGG	0.443																																					.													.	FAM101B	19		0			.												10	12	11					17																	295717		1968	4090	6058	SO:0001583	missense	359845	.			AGGGGGAGAGACG			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.14T>C	17.37:g.295717A>G	ENSP00000331915:p.Leu5Pro		470	0.0021276596	1		618	0.01	6	.	10	0	0		Missense_Mutation	SNP	ENST00000329099.4	37		.	.	.	.	.	.	.	.	.	.	A	12.70	2.017632	0.35606	.	.	ENSG00000183688	ENST00000329099	.	.	.	5.05	2.77	0.32553	.	0.516357	0.18702	N	0.133545	T	0.21881	0.0527	N	0.14661	0.345	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.11203	-1.0597	8	0.48119	T	0.1	4.5954	3.5824	0.07958	0.658:0.0:0.1788:0.1632	.	75	Q8N5W9	F101B_HUMAN	P	5	.	ENSP00000331915:L5P	L	-	2	0	FAM101B	295945	0.981000	0.34729	0.000000	0.03702	0.020000	0.10135	3.519000	0.53458	0.240000	0.21263	0.528000	0.53228	CTC			0.443	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255652.1		NM_182705		G	295717	A	G	295717	3	3	10	1	0	0	0	0	1	0	0	0	5391	291	11	4	428	4	FAM101B	17	295717	Missense_Mutation	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10		295717	80899493	58	671											
BTBD17	388419	mdanderson.org	37	chr17	72353826	72353826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtctgtgcagggggAtggcctgggtcagcagcacg	6	7	18	10	1	2	0	1	0	1	0	2	1	2	1	2	5	3	3	2	5	0	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:72353826A>G	ENST00000375366.3	-	3	533	c.407T>C	c.(406-408)aTc>aCc	p.I136T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	136					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						GTGCAGGGGGATGGCCTGGGT	0.721																																					p.I136T													.	.			0			c.T407C												7	5	6					17																	72353826		2056	4056	6112	SO:0001583	missense	388419	exon3			AGGGGGATGGCCT		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.407T>C	17.37:g.72353826A>G	ENSP00000364515:p.Ile136Thr		44	0	0		50	0.06	3	NM_001080466	2	0	0		Missense_Mutation	SNP	ENST00000375366.3	37	CCDS32719.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770001	0.31320	.	.	ENSG00000204347	ENST00000375366	T	0.66995	-0.24	4.8	4.8	0.61643	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.191183	0.45867	D	0.000327	T	0.55752	0.1940	L	0.39397	1.21	0.40924	D	0.984333	B	0.20550	0.046	B	0.26202	0.067	T	0.52771	-0.8531	10	0.25751	T	0.34	-26.4183	9.7549	0.40498	0.8459:0.0:0.0:0.1541	.	136	A6NE02	BTBDH_HUMAN	T	136	ENSP00000364515:I136T	ENSP00000364515:I136T	I	-	2	0	BTBD17	69865421	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.932000	0.56537	1.814000	0.52955	0.454000	0.30748	ATC			0.721	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442542.1		NM_001080466		G	72353826	A	G	72353826	3	3	10	1	0	0	0	0	1	0	0	0	1544	333	12	4	1033	4	BTBD17	17	72353826	Missense_Mutation	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10	72058109	72353826	8841384	59	672											
CASKIN2	57513	broad.mit.edu	37	chr17	73498806	73498806	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgggggagtggcagggggCccggccaagtaggagaaggc	8	4	21	8	1	1	1	0	0	1	1	1	3	1	2	2	8	0	2	2	8	3	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:73498806C>G	ENST00000321617.3	-	18	2935	c.2349G>C	c.(2347-2349)ggG>ggC	p.G783G	CASKIN2_ENST00000433559.2_Silent_p.G701G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	783	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)			TGGCAGGGGGCCCGGCCAAGT	0.701																																					p.S783S													.	CASKIN2	66		0			c.C2349C												6	8	7					17																	73498806		2042	4122	6164	SO:0001819	synonymous_variant	57513	exon18			AGGGGGCCCGGCC	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.2349G>C	17.37:g.73498806C>G			52	0.1153846154	6		54	0.09	5	NM_020753	43	0.19	8	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	CCDS11723.1																																																																																					0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447609.1		NM_020753		G	73498806	C	G	73498806	2	3	10	1	0	0	0	0	0	0	0	1	2669	726	26	5		5	CASKIN2	17	73498806	Silent	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	1144980	73498806	7696404	60	673											
QRICH2	84074	mdanderson.org	37	chr17	74274126	74274126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagctcgcggattatctgGctgctggccttggtggagcc	5	10	15	11	2	1	0	0	0	1	0	2	2	1	2	2	5	4	4	2	5	1	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:74274126G>T	ENST00000262765.5	-	15	4742	c.4563C>A	c.(4561-4563)agC>agA	p.S1521R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1521										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						GGATTATCTGGCTGCTGGCCT	0.637																																					p.S1521R													.	.			0			c.C4563A												72	74	73					17																	74274126		2203	4300	6503	SO:0001583	missense	84074	exon15			TATCTGGCTGCTG	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.4563C>A	17.37:g.74274126G>T	ENSP00000262765:p.Ser1521Arg		27	0	0		37	0.08	3	NM_032134	14	0	0	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.247155|2.247155	0.39697|0.39697	.|.	.|.	ENSG00000129646|ENSG00000129646	ENST00000532549|ENST00000262765	.|T	.|0.11063	.|2.81	5.65|5.65	2.54|2.54	0.30619|0.30619	.|.	.|.	.|.	.|.	.|.	T|T	0.27169|0.27169	0.0666|0.0666	M|M	0.68317|0.68317	2.08|2.08	0.28559|0.28559	N|N	0.911233|0.911233	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.05131|0.05131	-1.0904|-1.0904	5|9	.|0.66056	.|D	.|0.02	-22.6342|-22.6342	7.949|7.949	0.30003|0.30003	0.3273:0.0:0.6726:0.0|0.3273:0.0:0.6726:0.0	.|.	.|1521	.|Q9H0J4	.|QRIC2_HUMAN	D|R	169|1521	.|ENSP00000262765:S1521R	.|ENSP00000262765:S1521R	A|S	-|-	2|3	0|2	QRICH2|QRICH2	71785721|71785721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.603000|0.603000	0.37013|0.37013	0.523000|0.523000	0.22925|0.22925	0.316000|0.316000	0.23135|0.23135	0.491000|0.491000	0.48974|0.48974	GCC|AGC			0.637	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395140.1		NM_032134		T	74274126	G	T	74274126	3	4	10	1	0	0	0	0	1	0	0	0	12903	1194	42	2	448	2	QRICH2	17	74274126	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	775320	74274126	6921084	61	674											
CCDC40	55036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	78023947	78023947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcacctggtacacctgCagaagctgctggagaagagt	12	6	13	10	0	0	3	0	0	0	3	0	4	0	3	2	2	6	6	2	2	3	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:78023947C>T	ENST00000397545.4	+	7	1051	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000269318.5_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000374876.4_Nonsense_Mutation_p.Q342*	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	342					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)			GGTACACCTGCAGAAGCTGCT	0.627																																					p.Q342X													.	.			0			c.C1024T												21	25	24					17																	78023947		2135	4245	6380	SO:0001587	stop_gained	55036	exon7			CACCTGCAGAAGC	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.1024C>T	17.37:g.78023947C>T	ENSP00000380679:p.Gln342*		104	0	0		86	0.21	18	NM_017950	9	0.33	3	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Nonsense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791309	0.70452	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-49.7144	15.7201	0.77700	0.0:0.8633:0.1367:0.0	.	.	.	.	X	342	.	ENSP00000269318:Q342X	Q	+	1	0	CCDC40	75638542	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.816000	0.55658	2.385000	0.81259	0.655000	0.94253	CAG			0.627	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256005.2		XM_371082		T	78023947	C	T	78023947	4	4	10	1	0	0	0	0	0	1	0	0	2814	711	25	2	1050	2	CCDC40	17	78023947	Nonsense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	3749821	78023947	3171263	62	675											
MED16	10025	broad.mit.edu;mdanderson.org	37	chr19	889725	889725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactaggctgcccactgaGctctcccagctattagccag	8	9	8	16	0	1	1	0	1	1	0	3	1	2	1	4	1	4	3	4	1	3	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:889725G>C	ENST00000589119.1	-	3	359	c.360C>G	c.(358-360)agC>agG	p.S120R	MED16_ENST00000269814.4_Missense_Mutation_p.S120R|MED16_ENST00000395808.3_Missense_Mutation_p.S120R|MED16_ENST00000312090.6_Missense_Mutation_p.S120R|MED16_ENST00000325464.1_Missense_Mutation_p.S120R|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	120					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)		TGCCCACTGAGCTCTCCCAGC	0.622																																					p.S120R													.	MED16	61		0			c.C360G												60	45	50					19																	889725		2203	4300	6503	SO:0001583	missense	10025	exon4			CACTGAGCTCTCC	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.360C>G	19.37:g.889725G>C	ENSP00000464810:p.Ser120Arg		147	0	0		114	0.04	5	NM_005481	125	0	0	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	0.739	-0.777045	0.02929	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	3.34	3.34	0.38264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.413114	0.28933	N	0.013676	T	0.11452	0.0279	L	0.40543	1.245	0.37810	D	0.928015	P;B;B;B;P	0.45902	0.868;0.275;0.157;0.275;0.458	B;B;B;B;B	0.39660	0.306;0.075;0.085;0.159;0.247	T	0.14615	-1.0466	10	0.13853	T	0.58	-4.3285	7.9627	0.30081	0.1142:0.0:0.8858:0.0	.	120;120;120;120;120	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	R	120	ENSP00000325612:S120R;ENSP00000308528:S120R;ENSP00000379153:S120R;ENSP00000269814:S120R	ENSP00000269814:S120R	S	-	3	2	MED16	840725	1.000000	0.71417	0.842000	0.33263	0.382000	0.30200	3.975000	0.56859	1.725000	0.51514	0.313000	0.20887	AGC			0.622	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457902.3		NM_005481		C	889725	G	C	889725	3	2	10	1	0	0	0	0	1	0	0	0	9450	962	34	5	2325	5	MED16	19	889725	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10		889725	58239258	63	676											
PCSK4	148223	hgsc.bcm.edu	37	chr19	1482012	1482012	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggtccagcgtggaggatgGgggacaggaggtgcagtccc	7	6	19	9	1	0	0	0	0	0	0	2	4	2	4	2	7	2	1	2	7	0	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:1482012G>T	ENST00000436106.2	-	0	0				C19orf25_ENST00000588427.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000300954.5_Missense_Mutation_p.P672T|C19orf25_ENST00000591027.1_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000585675.1_5'Flank			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)		GTGGAGGATGGGGGACAGGAG	0.731																																					p.P672T													.	.			0			c.C2014A												7	6	6					19																	1482012		2063	4090	6153	SO:0001631	upstream_gene_variant	54760	exon15			AGGATGGGGGACA	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.1482012G>T	Exception_encountered		27	0	0		26	0.15	4	NM_017573	3	0	0	B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554475	0.27739	.	.	ENSG00000115257	ENST00000300954	T	0.63913	-0.07	3.88	2.73	0.32206	Growth factor, receptor (1);	0.284830	0.22606	U	0.057899	T	0.49575	0.1565	L	0.49455	1.56	0.18873	N	0.999984	P	0.41673	0.759	B	0.34824	0.19	T	0.46076	-0.9217	10	0.36615	T	0.2	.	10.4211	0.44350	0.0:0.2012:0.7988:0.0	.	672	Q6UW60	PCSK4_HUMAN	T	672	ENSP00000300954:P672T	ENSP00000300954:P672T	P	-	1	0	PCSK4	1433012	0.000000	0.05858	0.078000	0.20375	0.043000	0.13939	0.243000	0.18106	1.722000	0.51474	0.313000	0.20887	CCA			0.731	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449694.1		NM_152482		T	1482012	G	T	1482012	1	4	10	0	1	0	0	0	0	0	0	0	11619	1232	43	3		3	PCSK4	19	1482012	5'Flank	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	592287	1482012	57646971	64	677											
ZFR2	23217	broad.mit.edu;mdanderson.org	37	chr19	3822136	3822136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtccttcgcgttaaggtcGttgaaactgcactcgcacag	9	10	11	11	4	0	1	0	1	0	0	4	1	1	1	1	2	2	4	1	2	2	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:3822136G>C	ENST00000262961.4	-	9	1444	c.1434C>G	c.(1432-1434)aaC>aaG	p.N478K		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	478							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)		CGTTAAGGTCGTTGAAACTGC	0.662																																					p.N478K													.	ZFR2	63		0			c.C1434G												29	33	32					19																	3822136		2091	4209	6300	SO:0001583	missense	23217	exon9			AAGGTCGTTGAAA	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.1434C>G	19.37:g.3822136G>C	ENSP00000262961:p.Asn478Lys		64	0	0		68	0.06	4	NM_015174	1	0	0		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384051	0.42308	.	.	ENSG00000105278	ENST00000262961	T	0.23754	1.89	3.54	-0.136	0.13473	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.151199	0.41097	U	0.000943	T	0.41534	0.1163	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.25745	-1.0123	10	0.87932	D	0	-25.4743	5.8894	0.18899	0.67:0.0:0.33:0.0	.	478	Q9UPR6	ZFR2_HUMAN	K	478	ENSP00000262961:N478K	ENSP00000262961:N478K	N	-	3	2	ZFR2	3773136	0.987000	0.35691	0.327000	0.25402	0.220000	0.24768	0.220000	0.17660	0.154000	0.19237	0.462000	0.41574	AAC			0.662	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453648.2		NM_015174		C	3822136	G	C	3822136	3	2	10	1	0	0	0	0	1	0	0	0	17683	1136	40	5	1429	5	ZFR2	19	3822136	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	2340124	3822136	55306847	65	678											
SYCE2	256126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13011447	13011447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcctctcctctaatttctCtgtcagatccgaaacctgtt	8	15	5	13	1	4	1	1	0	3	1	8	3	6	1	4	0	1	1	4	0	2	3			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:13011447C>G	ENST00000293695.7	-	4	340	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	108					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCTAATTTCTCTGTCAGATCC	0.388																																					p.E108Q													.	.			0			c.G322C												127	113	117					19																	13011447		1848	4091	5939	SO:0001583	missense	256126	exon4			ATTTCTCTGTCAG	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"central element synaptonemal complex 1"	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.322G>C	19.37:g.13011447C>G	ENSP00000293695:p.Glu108Gln		119	0	0		103	0.17	17	NM_001105578	10	0.2	2	B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	7.603	0.673213	0.14776	.	.	ENSG00000161860	ENST00000293695	T	0.78246	-1.16	4.67	3.62	0.41486	.	0.369739	0.27627	N	0.018524	T	0.57373	0.2049	N	0.15975	0.35	0.23997	N	0.996226	B	0.24426	0.103	B	0.23419	0.046	T	0.44467	-0.9326	10	0.33141	T	0.24	-2.8527	5.7032	0.17893	0.196:0.706:0.0:0.098	.	108	Q6PIF2	SYCE2_HUMAN	Q	108	ENSP00000293695:E108Q	ENSP00000293695:E108Q	E	-	1	0	SYCE2	12872447	0.946000	0.32159	0.973000	0.42090	0.337000	0.28794	1.945000	0.40273	1.154000	0.42482	0.558000	0.71614	GAG			0.388	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451913.1		XM_497609		G	13011447	C	G	13011447	3	3	10	1	0	0	0	0	1	0	0	0	15452	922	32	5	346	5	SYCE2	19	13011447	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	9189311	13011447	46117536	66	679											
FAM32A	26017	broad.mit.edu	37	chr19	16296279	16296279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctacgagcaggtccaaaAgggacccctgaagctgaaag	13	4	13	11	1	0	2	0	2	0	0	1	4	1	3	4	3	3	2	4	3	5	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:16296279A>G	ENST00000263384.7	+	1	51	c.26A>G	c.(25-27)aAg>aGg	p.K9R	FAM32A_ENST00000589852.1_5'UTR|CTD-2562J15.4_ENST00000591038.1_RNA|FAM32A_ENST00000588367.1_Missense_Mutation_p.K9R	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	9	Lys-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			lung(1)	1						CAGGTCCAAAAGGGACCCCTG	0.597											OREG0025331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K9R													.	FAM32A	6		0			c.A26G												35	31	32					19																	16296279		2179	4272	6451	SO:0001583	missense	26017	exon1			TCCAAAAGGGACC	BC000639	CCDS12341.1	19p13.12-p13.11	2013-09-19			ENSG00000105058	ENSG00000105058			24563	protein-coding gene	gene with protein product		614554				11230166, 10810093	Standard	NM_014077		Approved	DKFZP586O0120	uc002ndt.3	Q9Y421	OTTHUMG00000182279	ENST00000263384.7:c.26A>G	19.37:g.16296279A>G	ENSP00000263384:p.Lys9Arg		181	0.0055248619	1	709	127	0.03	4	NM_014077	289	0	0	Q9BT02	Missense_Mutation	SNP	ENST00000263384.7	37	CCDS12341.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735976	0.30774	.	.	ENSG00000105058	ENST00000263384	.	.	.	3.41	-0.00507	0.14019	.	0.175899	0.46442	N	0.000296	T	0.39436	0.1078	L	0.37507	1.11	0.42328	D	0.992285	B	0.15719	0.014	B	0.17098	0.017	T	0.07712	-1.0758	9	0.24483	T	0.36	-15.6387	6.2518	0.20850	0.5224:0.0:0.4776:0.0	.	9	Q9Y421	FA32A_HUMAN	R	9	.	ENSP00000263384:K9R	K	+	2	0	FAM32A	16157279	1.000000	0.71417	0.786000	0.31890	0.955000	0.61496	1.205000	0.32308	0.061000	0.16311	0.456000	0.33151	AAG			0.597	FAM32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460346.1		NM_014077		G	16296279	A	G	16296279	3	3	10	1	0	0	0	0	1	0	0	0	5565	72	3	4	28	4	FAM32A	19	16296279	Missense_Mutation	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10	3284832	16296279	42832704	67	680											
FAM187B	148109	mdanderson.org	37	chr19	35716025	35716025	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagctgcctgccgccGgtggaggggtccagaaaggt	7	6	16	12	2	0	1	0	0	0	1	1	2	1	2	5	5	4	2	5	5	1	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:35716025G>T	ENST00000324675.3	-	2	861	c.813C>A	c.(811-813)acC>acA	p.T271T		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	271						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCCTGCCGCCGGTGGAGGGGT	0.667																																					p.T271T													.	.			0			c.C813A												12	15	14					19																	35716025		2198	4294	6492	SO:0001819	synonymous_variant	148109	exon2			GCCGCCGGTGGAG	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.813C>A	19.37:g.35716025G>T			46	0	0		49	0.06	3	NM_152481	0		0	Q8N7G6	Silent	SNP	ENST00000324675.3	37	CCDS12448.1																																																																																					0.667	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378854.1		NM_152481		T	35716025	G	T	35716025	2	4	10	1	0	0	0	0	0	0	0	1	5523	1103	39	1		1	FAM187B	19	35716025	Silent	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10	19419746	35716025	23412958	68	681											
CAPNS1	826	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000587718.1_Silent_p.G47G|CAPNS1_ENST00000588780.1_Silent_p.G47G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	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.141C>T	19.37:g.36632054C>T			65	0.0153846154	1		115	0.07	8	NM_001749	2	0	0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				T	36632054	C	T	36632054	2	4	10	1	0	0	0	0	0	0	0	1	2635	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	916029	36632054	22496929	69	682											
ARHGEF1	9138	mdanderson.org	37	chr19	42409964	42409964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcaatggtggccgagagAcgtctccagctgatggtgag	9	7	16	9	3	1	3	0	2	1	1	2	5	1	3	2	4	1	2	2	4	1	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:42409964A>G	ENST00000354532.3	+	25	2537	c.2389A>G	c.(2389-2391)Acg>Gcg	p.T797A	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.T812A|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.T779A|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.T764A|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.T853A	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	797					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGCCGAGAGACGTCTCCAGC	0.667																																					p.T812A													ARHGEF1,NS,carcinoma,-2,1	ARHGEF1	-2	1	0			c.A2434G												63	58	60					19																	42409964		2203	4300	6503	SO:0001583	missense	9138	exon25			CGAGAGACGTCTC	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2389A>G	19.37:g.42409964A>G	ENSP00000346532:p.Thr797Ala		73	0.0136986301	1		46	0.07	3	NM_199002	157	0.01	1	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	A	3.229	-0.157861	0.06544	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.63580	0.14;0.15;0.14;-0.05	3.72	0.196	0.15159	.	1.033930	0.07686	N	0.937965	T	0.29028	0.0721	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.21075	-1.0256	10	0.08381	T	0.77	-5.1019	5.9719	0.19357	0.6303:0.0:0.3697:0.0	.	779;812;764;797	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	A	797;764;812;779	ENSP00000346532:T797A;ENSP00000344429:T764A;ENSP00000337261:T812A;ENSP00000367394:T779A	ENSP00000337261:T812A	T	+	1	0	ARHGEF1	47101804	0.521000	0.26258	0.305000	0.25099	0.479000	0.33129	0.314000	0.19432	0.011000	0.14865	0.440000	0.28878	ACG			0.667	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000463360.1		NM_199002		G	42409964	A	G	42409964	3	3	10	1	0	0	0	0	1	0	0	0	893	275	10	4	2532	4	ARHGEF1	19	42409964	Missense_Mutation	SNP	A	TCGA-2G-AAFJ-01A-11D-A42Y-10	5777910	42409964	16719019	70	683											
CDH22	64405	broad.mit.edu	37	chr20	44879773	44879773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgcggccggctcccagcGcgccgtcctgccgagctccg	3	5	14	19	8	0	1	0	1	0	0	3	2	3	1	6	2	3	2	6	2	0	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr20:44879773G>T	ENST00000372262.3	-	1	561	c.161C>A	c.(160-162)gCg>gAg	p.A54E	CDH22_ENST00000537909.1_Missense_Mutation_p.A54E	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	54					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)				GGCTCCCAGCGCGCCGTCCTG	0.716																																					p.A54E													.	CDH22	112		0			c.C161A												14	16	16					20																	44879773		2175	4230	6405	SO:0001583	missense	64405	exon2			CCCAGCGCGCCGT	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.161C>A	20.37:g.44879773G>T	ENSP00000361336:p.Ala54Glu		75	0	0		120	0.03	3	NM_021248	0		0	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	g	0.639	-0.814162	0.02798	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.56776	0.44;0.44	3.29	1.04	0.20106	.	0.709475	0.11585	U	0.549381	T	0.21921	0.0528	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.22103	-1.0226	10	0.06365	T	0.9	.	1.1646	0.01813	0.1442:0.2153:0.3988:0.2417	.	54	Q9UJ99	CAD22_HUMAN	E	54	ENSP00000361336:A54E;ENSP00000437790:A54E	ENSP00000361336:A54E	A	-	2	0	CDH22	44313180	0.000000	0.05858	0.002000	0.10522	0.782000	0.44232	0.508000	0.22692	0.049000	0.15920	0.187000	0.17357	GCG			0.716	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080491.1		NM_021248		T	44879773	G	T	44879773	3	4	10	1	0	0	0	0	1	0	0	0	3109	1087	38	1	2369	1	CDH22	20	44879773	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10		44879773	18145747	71	684											
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	57485046	57485046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatcctgttcctcaacaagCaagatctgctcgctgagaaa	12	10	8	11	1	2	3	1	2	1	2	5	4	4	3	2	0	3	4	2	0	4	1			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr20:57485046C>G	ENST00000371085.3	+	11	1304	c.880C>G	c.(880-882)Caa>Gaa	p.Q294E	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.Q280E|GNAS_ENST00000354359.7_Missense_Mutation_p.Q295E|GNAS_ENST00000371102.4_Missense_Mutation_p.Q923E|GNAS_ENST00000371100.4_Missense_Mutation_p.Q937E|GNAS_ENST00000265620.7_Missense_Mutation_p.Q279E|GNAS_ENST00000306090.10_Missense_Mutation_p.Q280E|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	294					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)			CCTCAACAAGCAAGATCTGCT	0.527			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											p.Q937E	Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	.	.			0			c.C2809G												103	99	100					20																	57485046		2203	4300	6503	SO:0001583	missense	2778	exon11			AACAAGCAAGATC	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.880C>G	20.37:g.57485046C>G	ENSP00000360126:p.Gln294Glu		107	0	0		104	0.24	25	NM_080425	4628	0.34	1556	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135055	0.94517	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.29	5.29	0.74685	.	0.054543	0.85682	D	0.000000	D	0.95623	0.8577	M	0.90145	3.09	0.80722	D	1	P;D;D;D	0.89917	0.933;0.995;0.993;1.0	P;D;D;D	0.74348	0.645;0.966;0.917;0.983	D	0.96183	0.9132	10	0.87932	D	0	.	19.2712	0.94010	0.0:1.0:0.0:0.0	.	294;295;279;937	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	E	937;923;280;294;295;279;280;60	ENSP00000360141:Q937E;ENSP00000360143:Q923E;ENSP00000360136:Q280E;ENSP00000360126:Q294E;ENSP00000346328:Q295E;ENSP00000265620:Q279E;ENSP00000304472:Q280E	ENSP00000265620:Q279E	Q	+	1	0	GNAS	56918441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.348000	0.79366	2.625000	0.88918	0.591000	0.81541	CAA			0.527	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000080431.2		NM_000516		G	57485046	C	G	57485046	3	3	10	1	0	0	0	0	1	0	0	0	6524	711	25	5	3739	5	GNAS	20	57485046	Missense_Mutation	SNP	C	TCGA-2G-AAFJ-01A-11D-A42Y-10	12605273	57485046	5540474	72	685											
TFF3	7033	broad.mit.edu	37	chr21	43733726	43733726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgtccttggctggcacgGcacactggtttgcagctgtc	4	11	12	14	1	0	0	0	0	0	0	2	0	1	0	2	4	2	6	2	4	0	2			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr21:43733726G>A	ENST00000518498.1	-	2	374	c.140C>T	c.(139-141)gCc>gTc	p.A47V	TFF3_ENST00000489676.1_5'UTR|TFF3_ENST00000291525.10_Missense_Mutation_p.A83V			Q07654	TFF3_HUMAN	trefoil factor 3 (intestinal)	33	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				defense response (GO:0006952)|digestion (GO:0007586)|response to peptide hormone (GO:0043434)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCTGGCACGGCACACTGGTT	0.602																																					p.A47V													.	TFF3	9		0			c.C140T												48	42	44					21																	43733726		2203	4300	6503	SO:0001583	missense	7033	exon2			GGCACGGCACACT	AF432265	CCDS33565.1, CCDS33565.2	21q22.3	2006-05-16			ENSG00000160180	ENSG00000160180			11757	protein-coding gene	gene with protein product		600633				7718582, 9043862	Standard	NM_003226		Approved	HITF, ITF	uc002zav.3	Q07654	OTTHUMG00000086798	ENST00000518498.1:c.140C>T	21.37:g.43733726G>A	ENSP00000430690:p.Ala47Val		71	0	0		91	0.04	4	NM_003226	229	0	0	E9PBB5|Q96NX0|Q9UDA5	Missense_Mutation	SNP	ENST00000518498.1	37	CCDS33565.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889798	0.33348	.	.	ENSG00000160180	ENST00000518498;ENST00000291525;ENST00000398431	T;T	0.56275	0.47;0.47	4.31	-0.0159	0.13974	P-type trefoil (5);	0.684703	0.12977	N	0.423615	T	0.31702	0.0805	.	.	.	0.09310	N	1	B	0.22080	0.064	B	0.20767	0.031	T	0.17868	-1.0355	8	.	.	.	-1.7476	5.5642	0.17160	0.1579:0.0:0.3255:0.5166	.	33	Q07654	TFF3_HUMAN	V	47;83;35	ENSP00000430690:A47V;ENSP00000291525:A83V	.	A	-	2	0	TFF3	42606795	0.000000	0.05858	0.000000	0.03702	0.625000	0.37756	-0.334000	0.07883	-0.384000	0.07845	0.561000	0.74099	GCC			0.602	TFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195358.2		NM_003226		A	43733726	G	A	43733726	3	1	10	1	0	0	0	0	1	0	0	0	15828	1203	42	2	152	2	TFF3	21	43733726	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10		43733726	4396169	73	686											
TRABD	80305	mdanderson.org	37	chr22	50633425	50633425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagcacgctgctgcgggagGcccaggagctcagcctggag	8	4	17	12	2	1	1	1	0	0	1	1	4	1	4	2	4	5	4	2	4	0	0			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr22:50633425G>T	ENST00000303434.4	+	5	495	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S	TRABD_ENST00000395829.1_Missense_Mutation_p.A126S|TRABD_ENST00000380909.4_Missense_Mutation_p.A126S|RP3-402G11.25_ENST00000607943.1_RNA|TRABD_ENST00000395827.1_Missense_Mutation_p.A126S	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	126										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GCTGCGGGAGGCCCAGGAGCT	0.652																																					p.A126S													.	.			0			c.G376T												46	40	42					22																	50633425		2202	4300	6502	SO:0001583	missense	80305	exon5			CGGGAGGCCCAGG	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.376G>T	22.37:g.50633425G>T	ENSP00000305664:p.Ala126Ser		39	0	0		37	0.08	3	NM_025204	33	0	0	Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	37	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007052	0.75046	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.68952	2.095	0.80722	D	1	B;P	0.44260	0.222;0.83	B;P	0.47981	0.275;0.563	T	0.57323	-0.7831	10	0.34782	T	0.22	-40.3743	17.4228	0.87519	0.0:0.0:1.0:0.0	.	80;126	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	S	126	ENSP00000370295:A126S;ENSP00000305664:A126S;ENSP00000379171:A126S;ENSP00000379173:A126S	ENSP00000305664:A126S	A	+	1	0	TRABD	48975552	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	8.615000	0.90920	2.113000	0.64589	0.561000	0.74099	GCC			0.652	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000316987.1		NM_025204		T	50633425	G	T	50633425	3	4	10	1	0	0	0	0	1	0	0	0	16459	1203	42	2	390	2	TRABD	22	50633425	Missense_Mutation	SNP	G	TCGA-2G-AAFJ-01A-11D-A42Y-10		50633425	671141	74	687											
ARHGEF16	27237	mdanderson.org	37	chr1	3396390	3396390	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcagacctgccccaggtgGagatcaccaaggccttcttc	9	8	10	14	0	2	2	1	0	1	2	3	3	2	2	5	3	2	1	5	3	1	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr1:3396390G>T	ENST00000378378.4	+	14	2308	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*	ARHGEF16_ENST00000413250.2_Nonsense_Mutation_p.E339*|ARHGEF16_ENST00000378371.2_Nonsense_Mutation_p.E347*|ARHGEF16_ENST00000378373.1_Nonsense_Mutation_p.E347*	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	635	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCCCAGGTGGAGATCACCAA	0.647																																					p.E635X													.	.			0			c.G1903T												104	94	98					1																	3396390		2202	4298	6500	SO:0001587	stop_gained	27237	exon14			CAGGTGGAGATCA	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1903G>T	1.37:g.3396390G>T	ENSP00000367629:p.Glu635*		47	0	0		42	0.07	3	NM_014448	96	0	0	Q86TF0|Q99434	Nonsense_Mutation	SNP	ENST00000378378.4	37	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	39	7.695659	0.98438	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	.	.	.	4.86	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-39.9931	14.5141	0.67807	0.0:0.1476:0.8524:0.0	.	.	.	.	X	635;347;347;339	.	ENSP00000367622:E347X	E	+	1	0	ARHGEF16	3386250	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.435000	0.59941	2.253000	0.74438	0.491000	0.48974	GAG			0.647	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001515.1		NM_014448		T	3396390	G	T	3396390	4	4	11	1	0	0	0	0	0	1	0	0	899	1175	41	3	1953	3	ARHGEF16	1	3396390	Nonsense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		3396390	245854231	1	688											
ECE1	1889	broad.mit.edu	37	chr1	21586876	21586876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcgctcacgctggccGtggagttttctggaacaaca	7	10	11	13	3	2	0	1	0	1	0	3	2	2	2	2	3	3	3	2	3	2	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr1:21586876G>A	ENST00000374893.6	-	5	577	c.503C>T	c.(502-504)aCg>aTg	p.T168M	ECE1_ENST00000264205.6_Missense_Mutation_p.T165M|ECE1_ENST00000357071.4_Missense_Mutation_p.T156M|ECE1_ENST00000415912.2_Missense_Mutation_p.T152M|ECE1_ENST00000436918.2_Missense_Mutation_p.T168M	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	168					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)		CACGCTGGCCGTGGAGTTTtc	0.572																																					p.T168M													.	ECE1	76		0			c.C503T												209	189	196					1																	21586876		2203	4300	6503	SO:0001583	missense	1889	exon5			CTGGCCGTGGAGT	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.503C>T	1.37:g.21586876G>A	ENSP00000364028:p.Thr168Met		101	0	0		108	0.04	4	NM_001397	24	0	0	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999695	0.54147	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205;ENST00000473505	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.34	4.39	0.52855	Peptidase M13 (1);	0.198811	0.42053	D	0.000777	T	0.82245	0.4995	L	0.59436	1.845	0.44098	D	0.99686	P;D;D;D;D	0.89917	0.661;1.0;0.965;1.0;1.0	B;D;P;D;D	0.66847	0.227;0.946;0.647;0.947;0.911	T	0.82697	-0.0329	10	0.49607	T	0.09	-16.4304	14.8139	0.70017	0.0:0.1441:0.8559:0.0	.	168;152;168;156;165	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	M	152;156;168;168;165;54	ENSP00000405088:T152M;ENSP00000349581:T156M;ENSP00000364028:T168M;ENSP00000388439:T168M;ENSP00000264205:T165M;ENSP00000431856:T54M	ENSP00000264205:T165M	T	-	2	0	ECE1	21459463	1.000000	0.71417	0.992000	0.48379	0.695000	0.40330	4.967000	0.63722	2.496000	0.84212	0.313000	0.20887	ACG			0.572	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000007470.2		NM_001397		A	21586876	G	A	21586876	3	1	11	1	0	0	0	0	1	0	0	0	4894	1145	40	1	1869	1	ECE1	1	21586876	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	18190486	21586876	227663745	2	689											
COL11A1	1301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	103488447	103488447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcagaatccctgccgtCtatttctttgttttcatata	10	17	5	9	1	4	2	2	0	2	2	5	2	5	2	2	0	1	1	2	0	5	7			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr1:103488447C>A	ENST00000370096.3	-	8	1408	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y	COL11A1_ENST00000358392.2_Missense_Mutation_p.D378Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D327Y|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	366	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)		TCCCTGCCGTCTATTTCTTTG	0.348																																					p.D378Y													COL11A1,NS,carcinoma,+2,1	COL11A1	2	1	0			c.G1132T												74	73	74					1																	103488447		2203	4300	6503	SO:0001583	missense	1301	exon8			TGCCGTCTATTTC	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.1096G>T	1.37:g.103488447C>A	ENSP00000359114:p.Asp366Tyr		147	0	0		125	0.12	15	NM_080629	0		0	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870096	0.51588	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88509	-2.37;-0.63;-2.39;-0.58	5.67	4.74	0.60224	.	0.377600	0.27482	N	0.019168	D	0.92561	0.7637	M	0.84846	2.72	0.51012	D	0.999902	D;D;D	0.69078	0.983;0.997;0.971	P;D;P	0.63192	0.874;0.912;0.751	D	0.92348	0.5887	10	0.41790	T	0.15	.	14.7752	0.69726	0.0:0.8561:0.1439:0.0	.	327;378;366	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	Y	366;378;327;378	ENSP00000359114:D366Y;ENSP00000351163:D378Y;ENSP00000302551:D327Y;ENSP00000408640:D378Y	ENSP00000302551:D327Y	D	-	1	0	COL11A1	103261035	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.141000	0.64814	1.332000	0.45431	0.643000	0.83706	GAC			0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000029997.1		NM_080630		A	103488447	C	A	103488447	3	1	11	1	0	0	0	0	1	0	0	0	3669	913	32	3	4564	3	COL11A1	1	103488447	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	81901571	103488447	145762174	3	690											
OLFML3	56944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	114524091	114524091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatccacagacactggaCacagagcagcagtgggacac	14	5	11	11	0	0	3	0	0	0	3	1	5	1	5	1	2	2	2	1	2	1	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr1:114524091C>T	ENST00000320334.4	+	3	995	c.921C>T	c.(919-921)gaC>gaT	p.D307D	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Silent_p.D287D|OLFML3_ENST00000369551.1_Silent_p.D287D	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	307	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	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)		AGACACTGGACACAGAGCAGC	0.557																																					p.D307D													OLFML3,NS,carcinoma,+2,1	OLFML3	2	1	0			c.C921T												98	81	87					1																	114524091		2203	4300	6503	SO:0001819	synonymous_variant	56944	exon3			ACTGGACACAGAG	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.921C>T	1.37:g.114524091C>T			95	0	0		115	0.13	15	NM_020190	54	0.02	1	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Silent	SNP	ENST00000320334.4	37	CCDS870.1																																																																																					0.557	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033119.1		NM_020190		T	114524091	C	T	114524091	2	4	11	1	0	0	0	0	0	0	0	1	10876	477	17	3		3	OLFML3	1	114524091	Silent	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	11035644	114524091	134726530	4	691											
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcaaagagaaatgttttCtaactcaactggccggcttc	12	11	7	11	1	3	1	2	0	1	1	4	2	3	1	2	2	2	2	2	2	4	4	rs55936365		TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		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)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V													NBPF10,NS,carcinoma,0,2	NBPF10	0	2	2	Substitution - Missense(2)	kidney(2)	c.C130G																																									SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	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.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val		73	0.0273972603	2		49	0.06	3	NM_001039703	1	0	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT			0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding		OTTHUMT00000038550.3		NM_001039703		G	145293535	C	G	145293535	3	3	11	1	0	0	0	0	1	0	0	0	10209	912	32	5	132	5	NBPF10	1	145293535	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	30769444	145293535	103957086	5	692											
ARNT	405	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150785719	150785719	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgctcactagaacttgaacGatgatgaggctgctggccct	9	11	11	10	1	1	4	1	3	0	1	1	5	1	4	1	2	4	3	1	2	3	3			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr1:150785719G>C	ENST00000358595.5	-	21	2409	c.2209C>G	c.(2209-2211)Cgt>Ggt	p.R737G	ARNT_ENST00000515192.1_Missense_Mutation_p.R723G|ARNT_ENST00000354396.2_Missense_Mutation_p.R735G|RNU6-1309P_ENST00000363305.1_RNA|ARNT_ENST00000505755.1_Missense_Mutation_p.R722G	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	737	Gln-rich.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|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 protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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 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)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	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;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAACTTGAACGATGATGAGGC	0.527			T	ETV6	AML						OREG0013788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R737G				Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	.	.			0			c.C2209G												85	86	85					1																	150785719		2203	4300	6503	SO:0001583	missense	405	exon21			TTGAACGATGATG	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.2209C>G	1.37:g.150785719G>C	ENSP00000351407:p.Arg737Gly		149	0	0	1735	169	0.17	28	NM_001668	21	0.19	4	B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	1.208	-0.630631	0.03584	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.04654	3.7;3.7;3.7;3.58	5.85	4.93	0.64822	.	0.541573	0.18474	N	0.140138	T	0.00784	0.0026	N	0.16066	0.365	0.28689	N	0.904695	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.002;0.002;0.001	T	0.46938	-0.9155	10	0.02654	T	1	.	9.4573	0.38762	0.0:0.2811:0.4824:0.2365	.	721;735;723;722;737	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	G	737;735;723;688;722	ENSP00000351407:R737G;ENSP00000346372:R735G;ENSP00000423851:R723G;ENSP00000427571:R722G	ENSP00000346372:R735G	R	-	1	0	ARNT	149052343	1.000000	0.71417	0.985000	0.45067	0.281000	0.26958	3.008000	0.49544	1.454000	0.47793	-0.302000	0.09304	CGT			0.527	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000084741.2				C	150785719	G	C	150785719	3	2	11	1	0	0	0	0	1	0	0	0	965	1058	37	5	168	5	ARNT	1	150785719	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	5492184	150785719	98464902	6	693											
SLC39A10	57181	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	196581655	196581655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatccgatctgaaagaaaCaggaatagctaatatagcct	16	9	9	7	1	1	2	0	1	1	1	2	5	2	4	2	2	3	1	2	2	7	4			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr2:196581655C>T	ENST00000409086.3	+	7	2266	c.1991C>T	c.(1990-1992)aCa>aTa	p.T664I	SLC39A10_ENST00000359634.5_Missense_Mutation_p.T664I|SLC39A10_ENST00000541054.1_Missense_Mutation_p.T214I	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	664					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CTGAAAGAAACAGGAATAGCT	0.478																																					p.T664I													.	.			0			c.C1991T												130	123	126					2																	196581655		2203	4300	6503	SO:0001583	missense	57181	exon7			AAGAAACAGGAAT		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1991C>T	2.37:g.196581655C>T	ENSP00000386766:p.Thr664Ile		122	0	0		107	0.09	10	NM_020342	5	0.4	2	A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280625	0.80692	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.51325	0.71;0.71;0.71	5.54	5.54	0.83059	.	0.048209	0.85682	D	0.000000	T	0.59905	0.2228	L	0.43152	1.355	0.58432	D	0.999997	D	0.54047	0.964	P	0.59595	0.86	T	0.54430	-0.8295	10	0.42905	T	0.14	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	664	Q9ULF5	S39AA_HUMAN	I	664;664;214	ENSP00000386766:T664I;ENSP00000352655:T664I;ENSP00000437787:T214I	ENSP00000352655:T664I	T	+	2	0	SLC39A10	196289900	1.000000	0.71417	0.995000	0.50966	0.596000	0.36781	7.247000	0.78257	2.890000	0.99128	0.650000	0.86243	ACA			0.478	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335186.1		XM_047707		T	196581655	C	T	196581655	3	4	11	1	0	0	0	0	1	0	0	0	14636	478	17	3	2013	3	SLC39A10	2	196581655	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10		196581655	46617718	7	694											
LIMD1	8994	broad.mit.edu	37	chr3	45637462	45637462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacggttcacagcagggtgCggtccctgggctggggccga	5	6	19	11	3	1	0	1	0	0	0	2	2	2	1	2	7	2	3	2	7	0	1	rs371029378		TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr3:45637462C>T	ENST00000273317.4	+	1	1112	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.A364V	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	364					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)		CAGCAGGGTGCGGTCCCTGGG	0.632																																					p.A364V													.	LIMD1	34		0			c.C1091T							C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	66	65	65		1091	-0.5	0	3		65	0,8600		0,0,4300	no	missense	LIMD1	NM_014240.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	364/677	45637462	1,13005	2203	4300	6503	SO:0001583	missense	8994	exon1			AGGGTGCGGTCCC	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.1091C>T	3.37:g.45637462C>T	ENSP00000273317:p.Ala364Val		212	0	0		194	0.02	4	NM_014240	0		0	Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	C	4.329	0.060465	0.08339	2.27E-4	0.0	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.57907	0.37;0.57	4.51	-0.47	0.12131	.	1.995580	0.02416	N	0.082088	T	0.34687	0.0906	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.09079	-1.0691	10	0.22109	T	0.4	.	5.4033	0.16308	0.0:0.4736:0.1363:0.3901	.	364	Q9UGP4	LIMD1_HUMAN	V	364	ENSP00000394537:A364V;ENSP00000273317:A364V	ENSP00000273317:A364V	A	+	2	0	LIMD1	45612466	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.016000	0.12613	-0.337000	0.08426	0.655000	0.94253	GCG			0.632	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257327.1		NM_014240		T	45637462	C	T	45637462	3	4	11	1	0	0	0	0	1	0	0	0	8813	768	27	1	1093	1	LIMD1	3	45637462	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10		45637462	152384968	8	695											
PLXNB1	5364	mdanderson.org	37	chr3	48445924	48445924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccttgttttccacagcaGctgcaatctgctggagccga	8	11	10	12	1	1	1	0	1	1	0	2	3	2	2	3	1	5	5	3	1	1	3			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr3:48445924G>T	ENST00000358536.4	-	38	6646	c.6377C>A	c.(6376-6378)gCt>gAt	p.A2126D	PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1943D|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A2126D|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1943D|PLXNB1_ENST00000448774.2_Missense_Mutation_p.A737D	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2126					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)		TTCCACAGCAGCTGCAATCTG	0.592																																					p.A2126D													.	.			0			c.C6377A												56	54	55					3																	48445924		2203	4300	6503	SO:0001583	missense	5364	exon38			ACAGCAGCTGCAA	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.6377C>A	3.37:g.48445924G>T	ENSP00000351338:p.Ala2126Asp		55	0	0		44	0.07	3	NM_001130082	65	0	0	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138151	0.94560	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.13307	3.76;3.81;3.76;2.6;3.81	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.08391	-1.0724	10	0.49607	T	0.09	.	17.035	0.86471	0.0:0.0:1.0:0.0	.	2126;1943	O43157;O43157-2	PLXB1_HUMAN;.	D	2126;1943;2126;737;1943	ENSP00000296440:A2126D;ENSP00000351242:A1943D;ENSP00000351338:A2126D;ENSP00000389320:A737D;ENSP00000414199:A1943D	ENSP00000296440:A2126D	A	-	2	0	PLXNB1	48420928	1.000000	0.71417	0.935000	0.37517	0.997000	0.91878	9.767000	0.98960	2.258000	0.74832	0.650000	0.86243	GCT			0.592	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344454.1		NM_002673		T	48445924	G	T	48445924	3	4	11	1	0	0	0	0	1	0	0	0	12140	971	34	2	34	2	PLXNB1	3	48445924	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	2808462	48445924	149576506	9	696											
C3orf58	205428	mdanderson.org	37	chr3	143691653	143691653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctgctcacgcccgaggCggtggagggctggtcggacc	4	6	18	13	5	2	0	1	0	1	0	3	3	2	2	2	6	1	2	2	6	0	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr3:143691653C>T	ENST00000315691.3	+	1	1014	c.479C>T	c.(478-480)gCg>gTg	p.A160V	C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000441925.2_5'Flank|C3orf58_ENST00000495414.1_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	160					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						ACGCCCGAGGCGGTGGAGGGC	0.736																																					p.A160V													.	.			0			c.C479T												6	5	6					3																	143691653		2070	4088	6158	SO:0001583	missense	205428	exon1			CCGAGGCGGTGGA	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.479C>T	3.37:g.143691653C>T	ENSP00000320081:p.Ala160Val		27	0	0		16	0.19	3	NM_173552	0		0	B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	C	8.770	0.925705	0.18056	.	.	ENSG00000181744	ENST00000315691	T	0.28255	1.62	3.61	3.61	0.41365	.	0.074953	0.56097	D	0.000031	T	0.07052	0.0179	N	0.00289	-1.7	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17379	-1.0371	10	0.15952	T	0.53	.	9.3333	0.38034	0.0:0.9003:0.0:0.0997	.	160	Q8NDZ4	CC058_HUMAN	V	160	ENSP00000320081:A160V	ENSP00000320081:A160V	A	+	2	0	C3orf58	145174343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.859000	0.55987	1.863000	0.54032	0.561000	0.74099	GCG			0.736	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355038.1		NM_173552		T	143691653	C	T	143691653	3	4	11	1	0	0	0	0	1	0	0	0	2238	768	27	1	481	1	C3orf58	3	143691653	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	95245729	143691653	54330777	10	697											
NDUFB5	4711	mdanderson.org	37	chr3	179322665	179322665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcagctctgtctggccGgccccttggcactcgcctcg	2	9	14	16	3	2	0	0	0	2	0	4	0	2	0	4	5	1	3	4	5	0	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr3:179322665G>T	ENST00000259037.3	+	1	176	c.62G>T	c.(61-63)cGg>cTg	p.R21L	NDUFB5_ENST00000472629.1_Missense_Mutation_p.R21L|MRPL47_ENST00000392659.2_5'Flank|NDUFB5_ENST00000493866.1_Missense_Mutation_p.R21L|MRPL47_ENST00000259038.2_5'Flank|MRPL47_ENST00000476781.1_5'Flank	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	21					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTGTCTGGCCGGCCCCTTGGC	0.652																																					p.R21L													.	.			0			c.G62T												30	30	30					3																	179322665		2203	4300	6503	SO:0001583	missense	4711	exon1			CTGGCCGGCCCCT	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"Mitochondrial respiratory chain complex / Complex I"	7700	protein-coding gene	gene with protein product	"complex I SGDH subunit"	603841	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.62G>T	3.37:g.179322665G>T	ENSP00000259037:p.Arg21Leu		106	0	0		72	0.04	3	NM_001199958	149	0	0	Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.15|12.15	1.852752|1.852752	0.32699|0.32699	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000259037;ENST00000493866;ENST00000472629	.|T;T;T	.|0.55588	.|1.12;0.51;1.12	5.75|5.75	4.82|4.82	0.62117|0.62117	.|.	.|0.296492	.|0.35555	.|N	.|0.003137	T|T	0.54464|0.54464	0.1860|0.1860	M|M	0.82630|0.82630	2.6|2.6	0.36785|0.36785	D|D	0.884546|0.884546	.|P;P	.|0.48162	.|0.906;0.551	.|B;B	.|0.40602	.|0.334;0.313	T|T	0.63897|0.63897	-0.6533|-0.6533	6|10	0.48119|0.26408	T|T	0.1|0.33	-0.8876|-0.8876	13.8406|13.8406	0.63437|0.63437	0.0:0.1532:0.8467:0.0|0.0:0.1532:0.8467:0.0	.|.	.|21;21	.|Q561V6;O43674	.|.;NDUB5_HUMAN	C|L	18|21	.|ENSP00000259037:R21L;ENSP00000419656:R21L;ENSP00000419248:R21L	ENSP00000419099:G13C|ENSP00000259037:R21L	G|R	+|+	1|2	0|0	NDUFB5|NDUFB5	180805359|180805359	0.929000|0.929000	0.31497|0.31497	0.959000|0.959000	0.39883|0.39883	0.015000|0.015000	0.08874|0.08874	1.164000|1.164000	0.31810|0.31810	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GGC|CGG			0.652	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348937.2		NM_002492		T	179322665	G	T	179322665	3	4	11	1	0	0	0	0	1	0	0	0	10301	1116	39	1	64	1	NDUFB5	3	179322665	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	35631012	179322665	18699765	11	698											
DSPP	1834	bcgsc.ca	37	chr4	88537027	88537027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagtgatagcagtgaCagcagtgacagcagcgacag	14	4	14	9	1	0	3	0	3	0	0	0	5	0	3	0	0	5	4	0	0	1	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr4:88537027C>A	ENST00000282478.7	+	4	3246	c.3213C>A	c.(3211-3213)gaC>gaA	p.D1071E	DSPP_ENST00000399271.1_Missense_Mutation_p.D1071E|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1071	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagtgaca	0.542																																					p.D1071E													.	DSPP	174		0			c.C3213A												56	66	63					4																	88537027		1577	2848	4425	SO:0001583	missense	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3213C>A	4.37:g.88537027C>A	ENSP00000282478:p.Asp1071Glu		115	0.0086956522	1		99	0.07	7	NM_014208	0		0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	c	2.636	-0.285341	0.05605	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88124	-2.34;-2.34	1.15	-2.31	0.06765	.	.	.	.	.	T	0.69196	0.3084	L	0.38175	1.15	0.09310	N	1	P	0.46952	0.887	B	0.36766	0.232	T	0.66364	-0.5942	9	0.02654	T	1	.	2.058	0.03586	0.2533:0.3578:0.0:0.3889	.	1071	Q9NZW4	DSPP_HUMAN	E	1071	ENSP00000382213:D1071E;ENSP00000282478:D1071E	ENSP00000282478:D1071E	D	+	3	2	DSPP	88756051	0.029000	0.19370	0.018000	0.16275	0.040000	0.13550	-0.117000	0.10708	-0.986000	0.03498	0.282000	0.19409	GAC			0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		A	88537027	C	A	88537027	3	1	11	1	0	0	0	0	1	0	0	0	4787	477	17	3	3227	3	DSPP	4	88537027	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10		88537027	102617249	12	699											
FAM170A	340069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	118965473	118965473	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgatatcatgaaacgaCgacaaaagaggaaacatttg	18	8	9	6	2	1	3	1	2	0	1	1	6	1	4	0	1	3	1	0	1	6	3	rs567555202		TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr5:118965473C>T	ENST00000515256.1	+	1	182	c.10C>T	c.(10-12)Cga>Tga	p.R4*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	4					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CATGAAACGACGACAAAAGAG	0.468													C|||	1	0.000199681	0	0	5008	,	,		19050	0		0	False		,,,				2504	0.001				p.R4X													.	.			0			c.C10T												170	167	168					5																	118965473		1871	4114	5985	SO:0001587	stop_gained	340069	exon1			AAACGACGACAAA	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.10C>T	5.37:g.118965473C>T	ENSP00000422684:p.Arg4*		74	0	0		101	0.2	20	NM_182761	7	0	0	Q66LM8|Q7Z4V2|Q8IW94	Nonsense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	C	29.0	4.971024	0.92919	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	.	.	.	4.24	-2.63	0.06133	.	0.000000	0.38164	N	0.001785	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.347	14.3842	0.66931	0.7722:0.2278:0.0:0.0	.	.	.	.	X	4	.	.	R	+	1	2	FAM170A	118993372	0.002000	0.14202	0.002000	0.10522	0.825000	0.46686	-0.180000	0.09754	-0.541000	0.06257	0.561000	0.74099	CGA			0.468	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000371126.1		NM_182761		T	118965473	C	T	118965473	4	4	11	1	0	0	0	0	0	1	0	0	5499	528	19	1	12	1	FAM170A	5	118965473	Nonsense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10		118965473	61949787	13	700											
PDE6A	5145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	149323894	149323894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacagcatccttgtggaCattgaaaagcctggtggcca	11	8	13	9	0	0	1	0	1	0	0	1	4	1	3	3	4	2	1	3	4	2	2	rs147159579	byFrequency	TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr5:149323894C>T	ENST00000255266.5	-	1	462	c.343G>A	c.(343-345)Gtc>Atc	p.V115I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	115	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TCCTTGTGGACATTGAAAAGC	0.572													C|||	2	0.000399361	8e-04	0	5008	,	,		18050	0		0	False		,,,				2504	0.001				p.V115I													.	.			0			c.G343A							C	ILE/VAL	9,4397	17.9+/-39.9	0,9,2194	91	87	89		343	5.5	1	5	dbSNP_134	89	0,8600		0,0,4300	yes	missense	PDE6A	NM_000440.2	29	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	benign	115/861	149323894	9,12997	2203	4300	6503	SO:0001583	missense	5145	exon1			TGTGGACATTGAA		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.343G>A	5.37:g.149323894C>T	ENSP00000255266:p.Val115Ile		111	0	0		122	0.11	13	NM_000440	0		0	Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781610	0.70222	0.002043	0.0	ENSG00000132915	ENST00000255266	T	0.67523	-0.27	5.47	5.47	0.80525	GAF (2);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	L	0.58583	1.82	0.53005	D	0.999962	B	0.27316	0.175	B	0.39971	0.315	T	0.68017	-0.5520	10	0.38643	T	0.18	.	16.8098	0.85716	0.0:1.0:0.0:0.0	.	115	P16499	PDE6A_HUMAN	I	115	ENSP00000255266:V115I	ENSP00000255266:V115I	V	-	1	0	PDE6A	149304087	1.000000	0.71417	0.982000	0.44146	0.770000	0.43624	4.809000	0.62591	2.569000	0.86673	0.561000	0.74099	GTC	0.001		0.572	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252326.2				T	149323894	C	T	149323894	3	4	11	1	0	0	0	0	1	0	0	0	11662	478	17	3	2327	3	PDE6A	5	149323894	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	30358421	149323894	31591366	14	701											
FLT4	2324	mdanderson.org	37	chr5	180055910	180055910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcgggcggggggtacgctgCcagcttcacgggcagcttca	5	7	16	13	4	2	0	2	0	0	0	3	0	2	0	1	5	4	5	1	5	1	3			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr5:180055910C>T	ENST00000261937.6	-	8	1153	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.A359T|FLT4_ENST00000502649.1_Missense_Mutation_p.A359T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	359	Ig-like C2-type 4.				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)	GGGTACGCTGCCAGCTTCACG	0.632																																					p.A359T	Colon(97;1075 1466 27033 27547 35871)												.	.			0			c.G1075A												29	32	31					5																	180055910		2200	4293	6493	SO:0001583	missense	2324	exon8			ACGCTGCCAGCTT	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.1075G>A	5.37:g.180055910C>T	ENSP00000261937:p.Ala359Thr		55	0	0		47	0.06	3	NM_182925	1	0	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	8.893	0.954569	0.18431	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.75477	-0.93;-0.94;-0.93	4.68	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59032	0.2164	N	0.13003	0.285	0.31092	N	0.710685	P;B;B	0.35575	0.51;0.142;0.142	B;B;B	0.39840	0.311;0.216;0.216	T	0.54977	-0.8212	9	0.14252	T	0.57	.	12.4375	0.55608	0.4661:0.5339:0.0:0.0	.	359;359;359	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	T	359;359;359;169	ENSP00000261937:A359T;ENSP00000377016:A359T;ENSP00000426057:A359T	ENSP00000261937:A359T	A	-	1	0	FLT4	179988516	0.978000	0.34361	0.860000	0.33809	0.401000	0.30781	2.477000	0.45180	0.442000	0.26555	0.561000	0.74099	GCA			0.632	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253527.4				T	180055910	C	T	180055910	3	4	11	1	0	0	0	0	1	0	0	0	5957	739	26	2	3116	2	FLT4	5	180055910	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	30732016	180055910	859350	15	702											
MAP3K4	4216	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	161533755	161533755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagggccatgggcgtgcGgccgacatctggagtctggg	6	6	20	9	3	2	1	0	0	2	1	2	4	2	2	2	6	1	0	2	6	0	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr6:161533755G>A	ENST00000392142.4	+	25	4723	c.4575G>A	c.(4573-4575)gcG>gcA	p.A1525A	MAP3K4_ENST00000348824.7_Silent_p.A1471A|MAP3K4_ENST00000366919.2_Silent_p.A1475A|MAP3K4_ENST00000366920.2_Silent_p.A1521A	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1525	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGGGCGTGCGGCCGACATCT	0.527																																					p.A1525A													.	.			0			c.G4575A												134	131	132					6																	161533755		2203	4300	6503	SO:0001819	synonymous_variant	4216	exon25			GCGTGCGGCCGAC	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4575G>A	6.37:g.161533755G>A			153	0	0		130	0.05	7	NM_005922	90	0.22	20	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																					0.527	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000042988.3				A	161533755	G	A	161533755	2	1	11	1	0	0	0	0	0	0	0	1	9268	1103	39	1		1	MAP3K4	6	161533755	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		161533755	9581312	16	703											
CASD1	64921	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	94183874	94183874	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttttgcttggtttggaaAaatttcattagaggttggta	10	19	10	2	0	1	1	1	0	0	1	1	2	1	2	0	4	1	4	0	4	4	9			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr7:94183874A>T	ENST00000297273.4	+	17	2401	c.2114A>T	c.(2113-2115)aAa>aTa	p.K705I		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	705						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)			TGGTTTGGAAAAATTTCATTA	0.343																																					p.K705I													.	.			0			c.A2114T												125	125	125					7																	94183874		2202	4299	6501	SO:0001583	missense	64921	exon17			TTGGAAAAATTTC	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.2114A>T	7.37:g.94183874A>T	ENSP00000297273:p.Lys705Ile		93	0	0		115	0.13	15	NM_022900	16	0	0	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190063	0.78789	.	.	ENSG00000127995	ENST00000297273	T	0.48836	0.8	5.3	1.64	0.23874	.	0.047167	0.85682	D	0.000000	T	0.63022	0.2476	M	0.85197	2.74	0.53688	D	0.999976	P;P	0.37101	0.582;0.582	P;P	0.52031	0.688;0.688	T	0.64715	-0.6342	10	0.87932	D	0	.	8.8589	0.35245	0.7106:0.0:0.2894:0.0	.	705;705	Q8WZ77;Q96PB1	.;CASD1_HUMAN	I	705	ENSP00000297273:K705I	ENSP00000297273:K705I	K	+	2	0	CASD1	94021810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.103000	0.41806	0.420000	0.25954	0.477000	0.44152	AAA			0.343	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255216.1		NM_022900		T	94183874	A	T	94183874	3	4	11	1	0	0	0	0	1	0	0	0	2666	14	1	5	2180	5	CASD1	7	94183874	Missense_Mutation	SNP	A	TCGA-2G-AAFL-01A-21D-A42Y-10		94183874	64954789	17	704											
PPP1R3A	5506	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	113518008	113518008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actagtagaagcagagctgtCagattccttttcacctgaag	12	11	9	9	0	2	4	2	1	0	3	3	4	3	4	2	0	2	3	2	0	4	5			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr7:113518008C>T	ENST00000284601.3	-	4	3207	c.3139G>A	c.(3139-3141)Gac>Aac	p.D1047N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1047					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCAGAGCTGTCAGATTCCTTT	0.378																																					p.D1047N													.	.			0			c.G3139A												185	185	185					7																	113518008		2203	4299	6502	SO:0001583	missense	5506	exon4			AGCTGTCAGATTC	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3139G>A	7.37:g.113518008C>T	ENSP00000284601:p.Asp1047Asn		109	0	0		103	0.06	6	NM_002711	0		0	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	1.265	-0.614767	0.03663	.	.	ENSG00000154415	ENST00000284601	T	0.15487	2.42	5.41	2.45	0.29901	.	1.142880	0.06353	N	0.710193	T	0.09905	0.0243	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21348	-1.0248	10	0.42905	T	0.14	-0.1235	6.45	0.21898	0.0:0.6439:0.138:0.2181	.	1047	Q16821	PPR3A_HUMAN	N	1047	ENSP00000284601:D1047N	ENSP00000284601:D1047N	D	-	1	0	PPP1R3A	113305244	0.188000	0.23250	0.014000	0.15608	0.024000	0.10985	1.374000	0.34283	1.407000	0.46875	0.650000	0.86243	GAC			0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346724.1		NM_002711		T	113518008	C	T	113518008	3	4	11	1	0	0	0	0	1	0	0	0	12391	826	29	3	233	3	PPP1R3A	7	113518008	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	19334134	113518008	45620655	18	705											
CSMD1	64478	mdanderson.org	37	chr8	3326282	3326282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaatgctatcatccgactGcagatgtagccacatctggt	10	10	9	12	1	2	1	1	0	1	1	3	2	3	1	3	1	3	3	3	1	3	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr8:3326282G>T	ENST00000520002.1	-	13	2071	c.1516C>A	c.(1516-1518)Cag>Aag	p.Q506K	CSMD1_ENST00000539096.1_Missense_Mutation_p.Q505K|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q505K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q506K|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q506K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q505K|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q506K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	506	CUB 3. {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)		TCATCCGACTGCAGATGTAGC	0.463																																					p.Q505K													.	.			0			c.C1513A												56	55	56					8																	3326282		1947	4154	6101	SO:0001583	missense	64478	exon12			CCGACTGCAGATG			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.1516C>A	8.37:g.3326282G>T	ENSP00000430733:p.Gln506Lys		36	0	0		45	0.07	3	NM_033225	0		0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	18.59	3.656196	0.67586	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.14	5.14	0.70334	.	.	.	.	.	T	0.20088	0.0483	N	0.17800	0.525	0.52099	D	0.999943	P	0.42039	0.769	B	0.39152	0.292	T	0.02698	-1.1122	9	0.36615	T	0.2	.	18.653	0.91437	0.0:0.0:1.0:0.0	.	506	E5RIG2	.	K	506;506;368;505;505;505	ENSP00000383047:Q506K;ENSP00000430733:Q506K;ENSP00000441462:Q505K;ENSP00000446243:Q505K;ENSP00000441675:Q505K	ENSP00000320445:Q368K	Q	-	1	0	CSMD1	3313690	1.000000	0.71417	0.984000	0.44739	0.941000	0.58515	9.362000	0.97126	2.548000	0.85928	0.551000	0.68910	CAG			0.463	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225		T	3326282	G	T	3326282	3	4	11	1	0	0	0	0	1	0	0	0	3946	1328	46	2	9230	2	CSMD1	8	3326282	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		3326282	143037740	19	706											
MCPH1	79648	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	6302344	6302344	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggctcccattcacctccGaaggaaaaatgcaagagaaa	16	6	8	11	1	1	1	1	0	0	1	3	4	3	2	3	2	1	2	3	2	5	1	rs201084851	byFrequency	TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr8:6302344G>A	ENST00000344683.5	+	8	1177	c.1101G>A	c.(1099-1101)ccG>ccA	p.P367P	MCPH1_ENST00000522905.1_Silent_p.P319P|MCPH1_ENST00000519480.1_Silent_p.P367P	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	367					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATTCACCTCCGAAGGAAAAAT	0.502																																					p.P367P	Colon(95;1448 1467 8277 34473 35819)												MCPH1_ENST00000344683,colon,carcinoma,+1,1	MCPH1_ENST00000344683	1	1	0			c.G1101A							G	,,	1,3899		0,1,1949	41	40	40		1101,957,1101	-8.9	0	8		40	0,8324		0,0,4162	no	coding-synonymous,coding-synonymous,coding-synonymous	MCPH1	NM_001172574.1,NM_001172575.1,NM_024596.3	,,	0,1,6111	AA,AG,GG		0.0,0.0256,0.0082	,,	367/611,319/563,367/836	6302344	1,12223	1950	4162	6112	SO:0001819	synonymous_variant	79648	exon8			ACCTCCGAAGGAA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1101G>A	8.37:g.6302344G>A			163	0	0		127	0.06	8	NM_001172574	10	0	0	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	ENST00000344683.5	37	CCDS43689.1																																																																																					0.502	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374532.2		NM_024596		A	6302344	G	A	6302344	2	1	11	1	0	0	0	0	0	0	0	1	9414	1045	37	1		1	MCPH1	8	6302344	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	2976062	6302344	140061678	20	707											
EGR3	1960	hgsc.bcm.edu;broad.mit.edu	37	chr8	22548865	22548865	+	Frame_Shift_Del	DEL	G	G	-																															atgttgtcctggcaccagttGgaaggggagtcgaaggcgaa																										TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr8:22548865delG	ENST00000317216.2	-	2	642	c.285delC	c.(283-285)tccfs	p.S95fs	EGR3_ENST00000522910.1_Frame_Shift_Del_p.S57fs|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	95					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|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)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GGCACCAGTTGGAAGGGGAGT	0.627																																					p.N96fs													.	EGR3	33		0			c.286delA												63	66	65					8																	22548865		2203	4300	6503	SO:0001589	frameshift_variant	1960	exon2			CCAGTTGGAAGGG	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.285delC	8.37:g.22548865delG	ENSP00000318057:p.Ser95fs		124	0	0		121	0.09	11	NM_004430	1	0	0	A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Frame_Shift_Del	DEL	ENST00000317216.2	37	CCDS6033.1																																																																																					0.627	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000215098.1		NM_004430		-	22548865	G	-	22548865	7	5	11	1	0	1	0	1	0	0	0	0	4978	1335	47	0	882	0	EGR3	8	22548865	Frame_Shift_Del	DEL	G	TCGA-2G-AAFL-01A-21D-A42Y-10	16246521	22548865	123815157	21	708											
GDF6	392255	mdanderson.org	37	chr8	97157137	97157137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgccgcttgccatggCgactggcgaaggccgtgcgc	4	7	16	14	6	0	0	0	0	0	0	0	2	0	0	4	3	4	1	4	3	1	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr8:97157137C>T	ENST00000287020.5	-	2	1121	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	341					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)					CTTGCCATGGCGACTGGCGAA	0.726																																					p.R341H													GDF6,NS,carcinoma,0,1	GDF6	0	1	0			c.G1022A												30	25	27					8																	97157137		2202	4299	6501	SO:0001583	missense	392255	exon2			CCATGGCGACTGG		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.1022G>A	8.37:g.97157137C>T	ENSP00000287020:p.Arg341His		39	0	0		44	0.07	3	NM_001001557	0		0	Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152653	0.78001	.	.	ENSG00000156466	ENST00000287020	D	0.82081	-1.57	4.57	3.7	0.42460	Transforming growth factor-beta, C-terminal (1);	0.080541	0.49305	D	0.000154	D	0.85336	0.5673	L	0.36672	1.1	0.54753	D	0.999989	D	0.89917	1.0	D	0.72625	0.978	D	0.85158	0.0990	10	0.52906	T	0.07	.	11.6902	0.51510	0.0:0.9125:0.0:0.0875	.	341	Q6KF10	GDF6_HUMAN	H	341	ENSP00000287020:R341H	ENSP00000287020:R341H	R	-	2	0	GDF6	97226313	1.000000	0.71417	0.849000	0.33467	0.777000	0.43975	5.574000	0.67424	1.141000	0.42275	0.557000	0.71058	CGC			0.726	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379862.2		NM_001001557		T	97157137	C	T	97157137	3	4	11	1	0	0	0	0	1	0	0	0	6331	768	27	1	349	1	GDF6	8	97157137	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	74608272	97157137	49206885	22	709											
PHF20L1	51105	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	133826993	133826993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgtcttcagggaaggctCgcagcaagaaatgcaaacat	13	9	10	9	1	2	1	1	0	1	1	3	2	2	2	0	2	3	4	0	2	4	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr8:133826993C>T	ENST00000395386.2	+	10	1341	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R323C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	348							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	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)			AGGGAAGGCTCGCAGCAAGAA	0.413																																					p.R348C													.	PHF20L1	129		0			c.C1042T												130	132	131					8																	133826993		2203	4300	6503	SO:0001583	missense	51105	exon10			AAGGCTCGCAGCA	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1042C>T	8.37:g.133826993C>T	ENSP00000378784:p.Arg348Cys		261	0.0038314176	1		245	0.09	23	NM_016018	14	0.14	2	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805385	0.70682	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	T;T;T;T;T	0.70164	-0.32;-0.46;0.52;-0.41;0.53	5.83	5.83	0.93111	.	0.216430	0.49916	D	0.000138	T	0.75213	0.3819	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.976;0.982	T	0.76457	-0.2952	10	0.62326	D	0.03	-13.7152	19.1015	0.93276	0.0:1.0:0.0:0.0	.	323;348;348	F8W9L8;A8MW92;A8MW92-4	.;P20L1_HUMAN;.	C	352;323;348;348;218;323	ENSP00000378781:R352C;ENSP00000355301:R323C;ENSP00000378784:R348C;ENSP00000324519:R348C;ENSP00000378788:R323C	ENSP00000324519:R348C	R	+	1	0	PHF20L1	133896175	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.762000	0.94881	0.591000	0.81541	CGC			0.413	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000308949.3		NM_016018		T	133826993	C	T	133826993	3	4	11	1	0	0	0	0	1	0	0	0	11849	884	31	1	1082	1	PHF20L1	8	133826993	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	36669856	133826993	12537029	23	710											
MAFA	389692	mdanderson.org	37	chr8	144512464	144512464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggtggcagaagcgctcgGcctcgggaggctccttcttc	4	8	16	13	4	1	1	0	0	1	1	5	2	2	2	2	6	1	3	2	6	1	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr8:144512464G>T	ENST00000333480.2	-	1	112	c.113C>A	c.(112-114)gCc>gAc	p.A38D	MAFA_ENST00000528185.1_5'Flank	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	38					insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			GAAGCGCTCGGCCTCGGGAGG	0.697										HNSCC(29;0.082)																											p.A38D													.	.			0			c.C113A												22	19	20					8																	144512464		2147	4233	6380	SO:0001583	missense	389692	exon1			CGCTCGGCCTCGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.113C>A	8.37:g.144512464G>T	ENSP00000328364:p.Ala38Asp		43	0	0		43	0.07	3	NM_201589	2	0	0		Missense_Mutation	SNP	ENST00000333480.2	37	CCDS34955.1	.	.	.	.	.	.	.	.	.	.	g	16.91	3.252666	0.59212	.	.	ENSG00000182759	ENST00000333480	D	0.98437	-4.93	3.27	3.27	0.37495	.	0.000000	0.53938	U	0.000060	D	0.97607	0.9216	L	0.27053	0.805	0.49483	D	0.999793	D	0.89917	1.0	D	0.80764	0.994	D	0.97637	1.0146	10	0.48119	T	0.1	.	14.5433	0.68011	0.0:0.0:1.0:0.0	.	38	Q8NHW3	MAFA_HUMAN	D	38	ENSP00000328364:A38D	ENSP00000328364:A38D	A	-	2	0	MAFA	144583607	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.470000	0.73558	1.375000	0.46248	0.409000	0.27619	GCC			0.697	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381511.2		NM_201589		T	144512464	G	T	144512464	3	4	11	1	0	0	0	0	1	0	0	0	9173	1203	42	2	952	2	MAFA	8	144512464	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	10685471	144512464	1851558	24	711											
ADAMTS14	140766	mdanderson.org	37	chr10	72489934	72489934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcacactcccagcagcGccaggaccccagccacgctg	8	3	11	19	2	0	0	0	0	0	0	1	1	1	1	5	2	3	3	5	2	0	0	rs202093253		TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr10:72489934G>T	ENST00000373207.1	+	6	1031	c.1031G>T	c.(1030-1032)cGc>cTc	p.R344L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R344L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	344	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCCCAGCAGCGCCAGGACCCC	0.647																																					p.R344L													.	.			0			c.G1031T												78	68	72					10																	72489934		2203	4300	6503	SO:0001583	missense	140766	exon6			AGCAGCGCCAGGA	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1031G>T	10.37:g.72489934G>T	ENSP00000362303:p.Arg344Leu		42	0	0		42	0.07	3	NM_139155	2	0	0	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796930	0.90453	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.85171	-1.95;-1.95	4.7	4.7	0.59300	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.064036	0.64402	N	0.000005	D	0.87038	0.6078	L	0.53249	1.67	0.47037	D	0.999291	P;P	0.42827	0.791;0.791	P;P	0.49953	0.527;0.627	D	0.84903	0.0843	10	0.29301	T	0.29	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	344;344	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	L	344	ENSP00000362304:R344L;ENSP00000362303:R344L	ENSP00000362303:R344L	R	+	2	0	ADAMTS14	72159940	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.461000	0.66699	2.608000	0.88229	0.655000	0.94253	CGC			0.647	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000048522.1		NM_080722		T	72489934	G	T	72489934	3	4	11	1	0	0	0	0	1	0	0	0	259	1087	38	1	1053	1	ADAMTS14	10	72489934	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		72489934	63044813	25	712											
AVPI1	60370	mdanderson.org	37	chr10	99439617	99439617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccgggcctcaatcggggCctgccaagggggtggctcac	5	5	16	15	2	2	0	2	0	0	0	3	0	2	0	5	6	1	1	5	6	2	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr10:99439617C>T	ENST00000370626.3	-	2	613	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	16					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		TCAATCGGGGCCTGCCAAGGG	0.622																																					p.A16T													.	.			0			c.G46A												10	10	10					10																	99439617		2173	4245	6418	SO:0001583	missense	60370	exon2			TCGGGGCCTGCCA	AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.46G>A	10.37:g.99439617C>T	ENSP00000359660:p.Ala16Thr		77	0	0		45	0.07	3	NM_021732	30	0	0	Q53G32|Q9H2R9|Q9HBN9	Missense_Mutation	SNP	ENST00000370626.3	37	CCDS7470.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339609	0.41398	.	.	ENSG00000119986	ENST00000370626	T	0.29655	1.56	5.19	3.25	0.37280	.	0.324122	0.24825	N	0.035298	T	0.21022	0.0506	L	0.36672	1.1	0.09310	N	0.999998	B	0.22003	0.063	B	0.21917	0.037	T	0.22661	-1.0210	10	0.15952	T	0.53	-0.5909	8.7381	0.34541	0.0:0.6283:0.292:0.0797	.	16	Q5T686	AVPI1_HUMAN	T	16	ENSP00000359660:A16T	ENSP00000359660:A16T	A	-	1	0	AVPI1	99429607	0.828000	0.29307	0.420000	0.26596	0.909000	0.53808	1.428000	0.34892	0.689000	0.31550	0.561000	0.74099	GCC			0.622	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049736.1		NM_021732		T	99439617	C	T	99439617	3	4	11	1	0	0	0	0	1	0	0	0	1230	739	26	2	405	2	AVPI1	10	99439617	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	26949683	99439617	36095130	26	713											
SLC25A28	81894	broad.mit.edu	37	chr10	101370677	101370677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactcatacacagaccatgCgatggctgtggaggggatct	11	8	13	9	1	2	1	1	0	1	1	2	5	2	3	1	4	3	1	1	4	2	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr10:101370677C>T	ENST00000370495.4	-	4	1052	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	SLC25A28_ENST00000496035.1_5'Flank	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	342					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		ACAGACCATGCGATGGCTGTG	0.517																																					p.A342T													SLC25A28,NS,carcinoma,0,1	SLC25A28	34	1	0			c.G1024A												113	110	111					10																	101370677		1936	4131	6067	SO:0001583	missense	81894	exon4			ACCATGCGATGGC	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"Solute carriers"	23472	protein-coding gene	gene with protein product	"mitoferrin 2"	609767	"solute carrier family 25, member 28"			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.1024G>A	10.37:g.101370677C>T	ENSP00000359526:p.Ala342Thr		131	0.0152671756	2		118	0.03	4	NM_031212	131	0	0	Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894522	0.52121	.	.	ENSG00000155287	ENST00000434701;ENST00000370495	T;T	0.76578	-1.03;-1.03	5.26	5.26	0.73747	Mitochondrial carrier domain (2);	0.201030	0.51477	D	0.000081	T	0.59662	0.2210	N	0.11000	0.08	0.52501	D	0.99995	B	0.32829	0.386	B	0.32583	0.148	T	0.61053	-0.7140	10	0.05525	T	0.97	-25.3013	19.056	0.93066	0.0:1.0:0.0:0.0	.	342	Q96A46	MFRN2_HUMAN	T	203;342	ENSP00000399102:A203T;ENSP00000359526:A342T	ENSP00000359526:A342T	A	-	1	0	SLC25A28	101360667	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.587000	0.67510	2.735000	0.93741	0.561000	0.74099	GCA			0.517	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049801.1		NM_031212		T	101370677	C	T	101370677	3	4	11	1	0	0	0	0	1	0	0	0	14514	768	27	1	74	1	SLC25A28	10	101370677	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	1931060	101370677	34164070	27	714											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	1271589	1271589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccacagtcaccagctcCaaagccactccctcctccag	11	5	4	21	0	1	0	1	0	0	0	5	0	5	0	7	0	2	1	7	0	1	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr11:1271589C>T	ENST00000529681.1	+	31	13537	c.13479C>T	c.(13477-13479)tcC>tcT	p.S4493S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S4496S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4493	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)		TCACCAGCTCCAAAGCCACTC	0.642																																					p.S4493S													.	.			0			c.C13479T												127	166	153					11																	1271589		2173	4265	6438	SO:0001819	synonymous_variant	727897	exon31			CAGCTCCAAAGCC	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.13479C>T	11.37:g.1271589C>T			343	0	0		366	0.11	42	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																					0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093		T	1271589	C	T	1271589	2	4	11	1	0	0	0	0	0	0	0	1	9995	581	21	3		3	MUC5B	11	1271589	Silent	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10		1271589	133734927	28	715											
GTF2H1	2965	mdanderson.org	37	chr11	18354753	18354753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagatagatttacaatcagCcatatgtatgcagatattaa	18	12	6	5	0	1	3	1	0	0	3	1	3	1	3	1	0	3	2	1	0	8	7			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr11:18354753C>A	ENST00000265963.4	+	2	292	c.132C>A	c.(130-132)agC>agA	p.S44R	GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.S44R|GTF2H1_ENST00000534641.1_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	44					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|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)|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)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TTACAATCAGCCATATGTATG	0.348								Nucleotide excision repair (NER)																													p.S44R													.	.			0			c.C132A												97	94	95					11																	18354753		2199	4293	6492	SO:0001583	missense	2965	exon3			AATCAGCCATATG		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.132C>A	11.37:g.18354753C>A	ENSP00000265963:p.Ser44Arg		57	0	0		32	0.09	3	NM_001142307	19	0	0	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478342	0.84747	.	.	ENSG00000110768	ENST00000453096;ENST00000525831;ENST00000265963	T;T	0.26660	1.72;1.72	5.28	5.28	0.74379	TFIIH p62 subunit, N-terminal (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.46843	-0.9162	10	0.42905	T	0.14	-10.4245	19.2693	0.94002	0.0:1.0:0.0:0.0	.	44	P32780	TF2H1_HUMAN	R	44	ENSP00000393638:S44R;ENSP00000265963:S44R	ENSP00000265963:S44R	S	+	3	2	GTF2H1	18311329	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.436000	0.59948	2.619000	0.88677	0.563000	0.77884	AGC			0.348	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395627.2		NM_005316		A	18354753	C	A	18354753	3	1	11	1	0	0	0	0	1	0	0	0	6875	738	26	2	134	2	GTF2H1	11	18354753	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	17083164	18354753	116651763	29	716											
TMEM151A	256472	mdanderson.org	37	chr11	66061946	66061946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctggggcccgaggccGccttggcccggggagccggg	2	5	20	14	4	0	0	0	0	0	0	1	2	1	1	6	8	1	0	6	8	0	1	rs202127682	byFrequency	TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr11:66061946G>A	ENST00000327259.4	+	2	373	c.229G>A	c.(229-231)Gcc>Acc	p.A77T		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	77						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						GCCCGAGGCCGCCTTGGCCCG	0.731													G|||	2	0.000399361	0	0	5008	,	,		12107	0		0.002	False		,,,				2504	0				p.A77T													.	.			0			c.G229A							G	THR/ALA	0,4362		0,0,2181	18	19	19		229	2.8	0.6	11		19	15,8387		0,15,4186	no	missense	TMEM151A	NM_153266.3	58	0,15,6367	AA,AG,GG		0.1785,0.0,0.1175	benign	77/469	66061946	15,12749	2181	4201	6382	SO:0001583	missense	256472	exon2			GAGGCCGCCTTGG	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"transmembrane protein 151"	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.229G>A	11.37:g.66061946G>A	ENSP00000326244:p.Ala77Thr		69	0	0		55	0.07	4	NM_153266	0		0	Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	CCDS8133.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	G	0.678	-0.799401	0.02841	0.0	0.001785	ENSG00000179292	ENST00000327259	.	.	.	4.69	2.83	0.33086	.	0.164918	0.37955	N	0.001876	T	0.24851	0.0603	N	0.22421	0.69	0.41580	D	0.988732	B	0.28128	0.201	B	0.18263	0.021	T	0.05305	-1.0893	9	0.20519	T	0.43	.	9.7953	0.40731	0.1709:0.0:0.8291:0.0	.	77	Q8N4L1	T151A_HUMAN	T	77	.	ENSP00000326244:A77T	A	+	1	0	TMEM151A	65818522	1.000000	0.71417	0.592000	0.28758	0.012000	0.07955	6.114000	0.71560	0.600000	0.29862	-0.254000	0.11334	GCC	0.002		0.731	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391897.1		NM_153266		A	66061946	G	A	66061946	3	1	11	1	0	0	0	0	1	0	0	0	16093	1087	38	1	235	1	TMEM151A	11	66061946	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	47707193	66061946	68944570	30	717											
LRP5	4041	bcgsc.ca	37	chr11	68216457	68216457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtcggcggaggacagCtgcccgccctcgcccgccac	5	5	12	19	5	0	0	0	0	0	0	2	2	0	2	5	3	3	1	5	3	1	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr11:68216457C>T	ENST00000294304.7	+	23	4873	c.4767C>T	c.(4765-4767)agC>agT	p.S1589S	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1589	Pro-rich.				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						CGGAGGACAGCTGCCCGCCCT	0.667																																					p.S1589S													.	LRP5	136		0			c.C4767T												52	47	49					11																	68216457		2200	4294	6494	SO:0001819	synonymous_variant	4041	exon23			GGACAGCTGCCCG	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.4767C>T	11.37:g.68216457C>T			24	0	0		32	0.13	4	NM_002335	99	0	0	Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	8.680	0.904964	0.17760	.	.	ENSG00000162337	ENST00000529702	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	T	0.64360	0.2591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62872	-0.6762	4	.	.	.	.	13.0255	0.58812	0.0:0.9196:0.0:0.0804	.	.	.	.	V	146	.	.	A	+	2	0	LRP5	67973033	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.732000	0.47352	2.367000	0.80283	0.555000	0.69702	GCT			0.667	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395088.1		NM_002335		T	68216457	C	T	68216457	2	4	11	1	0	0	0	0	0	0	0	1	8976	796	28	2		2	LRP5	11	68216457	Silent	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	2154511	68216457	66790059	31	718											
SYTL2	54843	broad.mit.edu	37	chr11	85445575	85445575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctctcggagcccctctcGctttcagggagtctgtcctt	3	13	9	16	2	4	0	1	0	3	0	8	2	6	2	4	2	1	1	4	2	0	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr11:85445575G>A	ENST00000528231.1	-	6	1071	c.794C>T	c.(793-795)gCg>gTg	p.A265V	SYTL2_ENST00000527523.1_Missense_Mutation_p.A217V|SYTL2_ENST00000524452.1_Missense_Mutation_p.A265V|SYTL2_ENST00000316356.4_Missense_Mutation_p.A266V|SYTL2_ENST00000389960.4_Missense_Mutation_p.A265V	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	265					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)		AGCCCCTCTCGCTTTCAGGGA	0.453																																					p.A266V													SYTL2_ENST00000316356,colon,carcinoma,+1,1	SYTL2	231	1	0			c.C797T												125	128	127					11																	85445575		2203	4299	6502	SO:0001583	missense	54843	exon6			CCTCTCGCTTTCA	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.794C>T	11.37:g.85445575G>A	ENSP00000431701:p.Ala265Val		178	0	0		157	0.03	5	NM_001162953	0		0	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	3.632	-0.075314	0.07184	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.26660	1.84;1.83;1.83;1.72;1.84	5.87	1.79	0.24919	.	.	.	.	.	T	0.15176	0.0366	L	0.36672	1.1	0.09310	N	0.999999	B;P;B;B;P	0.42161	0.355;0.583;0.242;0.351;0.772	B;B;B;B;B	0.31101	0.079;0.079;0.054;0.05;0.124	T	0.10405	-1.0631	8	.	.	.	.	8.2765	0.31874	0.1647:0.4669:0.3684:0.0	.	217;265;265;266;123	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	V	265;266;265;217;265	ENSP00000374610:A265V;ENSP00000318803:A266V;ENSP00000431701:A265V;ENSP00000434010:A217V;ENSP00000435238:A265V	.	A	-	2	0	SYTL2	85123223	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.912000	0.39946	0.394000	0.25230	-0.897000	0.02905	GCG			0.453	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000392192.1		NM_206927		A	85445575	G	A	85445575	3	1	11	1	0	0	0	0	1	0	0	0	15506	1087	38	1	4543	1	SYTL2	11	85445575	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	17229118	85445575	49560941	32	719											
ME3	10873	mdanderson.org	37	chr11	86382933	86382933	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcgggagggcgccgcaGgcccggcccggccagggagc	5	0	20	16	6	0	0	0	0	0	0	0	2	0	2	4	6	2	1	4	6	0	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr11:86382933G>T	ENST00000393324.3	-	1	307	c.54C>A	c.(52-54)gcC>gcA	p.A18A	ME3_ENST00000359636.2_Silent_p.A18A|ME3_ENST00000543262.1_Silent_p.A18A	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	18					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GGGCGCCGCAGGCCCGGCCCG	0.746																																					p.A18A													.	.			0			c.C54A												5	6	6					11																	86382933		1999	3798	5797	SO:0001819	synonymous_variant	10873	exon1			GCCGCAGGCCCGG	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.54C>A	11.37:g.86382933G>T			51	0	0		27	0.07	2	NM_001014811	1	0	0	B7Z6V0|Q8TBJ0	Silent	SNP	ENST00000393324.3	37	CCDS8277.1																																																																																					0.746	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393767.2				T	86382933	G	T	86382933	2	4	11	1	0	0	0	0	0	0	0	1	9435	987	35	3		3	ME3	11	86382933	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	937358	86382933	48623583	33	720											
TULP3	7289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	3040319	3040319	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaggtgtcacagtaagAtgtcggataatccgggataa	13	9	11	8	2	2	1	2	0	0	1	4	3	3	3	2	3	0	1	2	3	4	3			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr12:3040319A>C	ENST00000448120.2	+	6	660	c.609A>C	c.(607-609)agA>agC	p.R203S	TULP3_ENST00000397132.2_Missense_Mutation_p.R203S|RNU7-166P_ENST00000459397.1_RNA	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	203					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|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 smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCACAGTAAGATGTCGGATAA	0.478																																					p.R203S													.	.			0			c.A609C												104	99	100					12																	3040319		2203	4300	6503	SO:0001583	missense	7289	exon6			AGTAAGATGTCGG	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.609A>C	12.37:g.3040319A>C	ENSP00000410051:p.Arg203Ser		103	0	0		189	0.12	22	NM_003324	11	0	0	B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951379	0.53186	.	.	ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132	D;D	0.96491	-4.03;-4.03	5.76	2.48	0.30137	Tubby, C-terminal (3);	0.083846	0.85682	D	0.000000	D	0.94125	0.8116	M	0.67397	2.05	0.26935	N	0.966375	B;P;P	0.46512	0.361;0.604;0.879	B;B;B	0.40940	0.309;0.344;0.3	D	0.89183	0.3545	10	0.87932	D	0	-18.6591	9.333	0.38034	0.334:0.0:0.666:0.0	.	60;203;203	B7Z1E7;O75386;F8WBZ9	.;TULP3_HUMAN;.	S	203;60;203;203	ENSP00000410051:R203S;ENSP00000380321:R203S	ENSP00000228245:R203S	R	+	3	2	TULP3	2910580	1.000000	0.71417	0.901000	0.35422	0.483000	0.33249	1.765000	0.38481	0.759000	0.33084	-0.242000	0.12053	AGA			0.478	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000398468.1		NM_003324		C	3040319	A	C	3040319	3	2	11	1	0	0	0	0	1	0	0	0	16799	330	12	4	631	4	TULP3	12	3040319	Missense_Mutation	SNP	A	TCGA-2G-AAFL-01A-21D-A42Y-10		3040319	130811576	34	721											
SUPT16H	11198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	21830430	21830430	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagagcactgcctgggcaAtaaaagttgattcgcaagta	13	8	10	10	1	0	2	0	1	0	1	1	2	0	2	2	1	2	5	2	1	5	4			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr14:21830430A>G	ENST00000216297.2	-	15	2057	c.1719T>C	c.(1717-1719)taT>taC	p.Y573Y		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	573					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|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)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGCCTGGGCAATAAAAGTTGA	0.408																																					p.Y573Y													.	.			0			c.T1719C												69	64	65					14																	21830430		2203	4300	6503	SO:0001819	synonymous_variant	11198	exon15			TGGGCAATAAAAG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1719T>C	14.37:g.21830430A>G			82	0	0		89	0.07	6	NM_007192	35	0.2	7	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	CCDS9569.1																																																																																					0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000074025.2				G	21830430	A	G	21830430	2	3	11	1	0	0	0	0	0	0	0	1	15419	108	4	4		4	SUPT16H	14	21830430	Silent	SNP	A	TCGA-2G-AAFL-01A-21D-A42Y-10		21830430	85519110	35	722											
WDR25	79446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	100847625	100847625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgtggacgagccatGttccagccagccacatgccc	7	9	9	16	1	1	0	0	0	1	0	3	2	2	1	5	1	4	1	5	1	0	2	rs546879041		TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr14:100847625G>A	ENST00000335290.6	+	2	590	c.364G>A	c.(364-366)Gtt>Att	p.V122I	WDR25_ENST00000554175.1_Missense_Mutation_p.V122I|WDR25_ENST00000402312.3_Missense_Mutation_p.V122I|WDR25_ENST00000554998.1_Missense_Mutation_p.V122I|WDR25_ENST00000542471.2_5'Flank	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	122										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GACGAGCCATGTTCCAGCCAG	0.547													G|||	1	0.000199681	0	0	5008	,	,		17348	0		0	False		,,,				2504	0.001				p.V122I													.	.			0			c.G364A												44	49	47					14																	100847625		2203	4300	6503	SO:0001583	missense	79446	exon2			AGCCATGTTCCAG	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.364G>A	14.37:g.100847625G>A	ENSP00000334148:p.Val122Ile		115	0	0		145	0.12	17	NM_001161476	11	0.36	4	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745751	0.30955	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.60797	0.16;0.16;0.16;2.17	5.0	-4.06	0.03986	.	0.913791	0.09242	N	0.829080	T	0.32466	0.0830	N	0.22421	0.69	0.09310	N	1	B	0.22276	0.067	B	0.17433	0.018	T	0.15549	-1.0433	10	0.25751	T	0.34	-0.0092	2.1858	0.03886	0.4903:0.1321:0.2432:0.1345	.	122	Q64LD2	WDR25_HUMAN	I	122	ENSP00000450661:V122I;ENSP00000385540:V122I;ENSP00000334148:V122I;ENSP00000450727:V122I	ENSP00000334148:V122I	V	+	1	0	WDR25	99917378	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.999000	0.03697	-0.672000	0.05266	-0.136000	0.14681	GTT			0.547	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414312.1		NM_024515		A	100847625	G	A	100847625	3	1	11	1	0	0	0	0	1	0	0	0	17306	1377	48	3	366	3	WDR25	14	100847625	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	79017195	100847625	6501915	36	723											
ALPK3	57538	hgsc.bcm.edu	37	chr15	85401530	85401530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacacctgaagaaagggaGagccccacggtttccccccg	11	4	10	16	2	0	3	0	1	0	2	1	4	1	3	7	2	1	1	7	2	2	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr15:85401530G>A	ENST00000258888.5	+	6	4334	c.4167G>A	c.(4165-4167)gaG>gaA	p.E1389E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1389					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)			AAGAAAGGGAGAGCCCCACGG	0.647																																					p.E1389E													.	.			0			c.G4167A												16	20	19					15																	85401530		2179	4276	6455	SO:0001819	synonymous_variant	57538	exon6			AAGGGAGAGCCCC	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.4167G>A	15.37:g.85401530G>A			25	0	0		23	0.22	5	NM_020778	0		0	Q9P2L6	Silent	SNP	ENST00000258888.5	37	CCDS10333.1																																																																																					0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000308997.1		NM_020778		A	85401530	G	A	85401530	2	1	11	1	0	0	0	0	0	0	0	1	546	933	33	3		3	ALPK3	15	85401530	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		85401530	17129862	37	724											
NPRL3	8131	mdanderson.org	37	chr16	150464	150464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagaagctcacctccaGccagctgttgatgtgaagcc	10	7	11	13	0	1	3	1	2	0	1	2	3	2	3	4	1	4	4	4	1	2	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr16:150464G>T	ENST00000399953.3	-	7	1075	c.673C>A	c.(673-675)Ctg>Atg	p.L225M	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.L46M	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	225					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						CTCACCTCCAGCCAGCTGTTG	0.572																																					.													.	.			0			.												40	47	45					16																	150464		2076	4211	6287	SO:0001583	missense	8131	.			CCTCCAGCCAGCT		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.673C>A	16.37:g.150464G>T	ENSP00000382834:p.Leu225Met		46	0	0		45	0.07	3	.	37	0	0	D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37		.	.	.	.	.	.	.	.	.	.	G	27.9	4.873037	0.91664	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.91635	0.99;0.961;0.999;0.998	T	0.81455	-0.0925	8	0.56958	D	0.05	-36.3627	17.0865	0.86612	0.0:0.0:1.0:0.0	.	147;200;200;225	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	M	225;200;46	.	ENSP00000262313:L200M	L	-	1	2	NPRL3	90464	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.519000	0.98025	2.587000	0.87381	0.655000	0.94253	CTG			0.572	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001039476		T	150464	G	T	150464	3	4	11	1	0	0	0	0	1	0	0	0	10615	962	34	2	1063	2	NPRL3	16	150464	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		150464	90204289	38	725											
CACNA1H	8912	mdanderson.org	37	chr16	1252375	1252375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgggccggtggaccgccagGcaccggggggcacggcccgt	4	3	20	14	5	0	0	0	0	0	0	0	1	0	1	5	8	0	2	5	8	0	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr16:1252375G>T	ENST00000348261.5	+	9	2173	c.1925G>T	c.(1924-1926)gGc>gTc	p.G642V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G642V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G642V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	642					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGACCGCCAGGCACCGGGGGG	0.687																																					p.G642V													.	.			0			c.G1925T												5	7	6					16																	1252375		1917	3990	5907	SO:0001583	missense	8912	exon9			CGCCAGGCACCGG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1925G>T	16.37:g.1252375G>T	ENSP00000334198:p.Gly642Val		43	0	0		45	0.07	3	NM_021098	0		0	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	6.820	0.520460	0.13005	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96365	-3.99;-3.93	4.04	1.86	0.25419	.	.	.	.	.	D	0.92424	0.7595	L	0.46157	1.445	0.09310	N	0.999998	B;B	0.14438	0.01;0.003	B;B	0.14578	0.011;0.003	D	0.84518	0.0626	9	0.38643	T	0.18	.	4.8673	0.13615	0.1174:0.0:0.5009:0.3816	.	642;642	O95180-2;O95180	.;CAC1H_HUMAN	V	642	ENSP00000334198:G642V;ENSP00000351401:G642V	ENSP00000334198:G642V	G	+	2	0	CACNA1H	1192376	0.012000	0.17670	0.002000	0.10522	0.001000	0.01503	1.716000	0.37981	0.901000	0.36495	0.563000	0.77884	GGC			0.687	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421601.1		NM_001005407		T	1252375	G	T	1252375	3	4	11	1	0	0	0	0	1	0	0	0	2547	1203	42	2	1955	2	CACNA1H	16	1252375	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	1101911	1252375	89102378	39	726											
ROGDI	79641	mdanderson.org	37	chr16	4848588	4848588	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgaggccgctggcggcGatctcggggagggtgagggt	5	6	21	9	5	1	2	0	2	1	0	2	4	1	3	2	7	0	1	2	7	0	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr16:4848588G>T	ENST00000322048.7	-	7	891	c.513C>A	c.(511-513)atC>atA	p.I171I	RP11-127I20.5_ENST00000592465.1_RNA|ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	171					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						CGCTGGCGGCGATCTCGGGGA	0.701																																					p.I171I													.	.			0			c.C513A												15	17	16					16																	4848588		2179	4280	6459	SO:0001819	synonymous_variant	79641	exon7			GGCGGCGATCTCG	AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.513C>A	16.37:g.4848588G>T			15	0	0		19	0.16	3	NM_024589	87	0	0	Q6IA00	Silent	SNP	ENST00000322048.7	37	CCDS10523.1																																																																																					0.701	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251643.3		NM_024589		T	4848588	G	T	4848588	2	4	11	1	0	0	0	0	0	0	0	1	13543	1048	37	1		1	ROGDI	16	4848588	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	3596213	4848588	85506165	40	727											
VMO1	284013	mdanderson.org	37	chr17	4689636	4689636	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcttggctcctgcGccccgctccatcctgtagcg	4	8	12	17	3	0	0	0	0	0	0	3	0	3	0	5	2	4	6	5	2	1	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:4689636G>T	ENST00000328739.5	-	1	91	c.12C>A	c.(10-12)ggC>ggA	p.G4G	VMO1_ENST00000416307.2_Silent_p.G4G|VMO1_ENST00000354194.4_Silent_p.G4G|GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000441199.2_Silent_p.G4G	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	4						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TGGCTCCTGCGCCCCGCTCCA	0.597																																					p.G4G													.	.			0			c.C12A												11	13	12					17																	4689636		2199	4288	6487	SO:0001819	synonymous_variant	284013	exon1			TCCTGCGCCCCGC	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.12C>A	17.37:g.4689636G>T			24	0	0		11	0.27	3	NM_001144939	3	0	0	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Silent	SNP	ENST00000328739.5	37	CCDS11055.1																																																																																					0.597	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439587.1		NM_182566		T	4689636	G	T	4689636	2	4	11	1	0	0	0	0	0	0	0	1	17201	1074	38	1		1	VMO1	17	4689636	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		4689636	76505574	41	728											
DNAH9	1770	mdanderson.org	37	chr17	11502133	11502133	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctttttttccttcgcacCgggcccgagcctccagggcc	3	10	11	17	4	0	0	0	0	0	0	3	1	2	0	6	2	1	2	6	2	0	4			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:11502133C>T	ENST00000262442.4	+	1	386	c.318C>T	c.(316-318)acC>acT	p.T106T	DNAH9_ENST00000579828.1_Silent_p.T106T|DNAH9_ENST00000454412.2_Silent_p.T106T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	106	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)		TCCTTCGCACCGGGCCCGAGC	0.726																																					p.T106T													DNAH9,NS,carcinoma,+2,1	DNAH9	2	1	0			c.C318T												2	3	3					17																	11502133		1771	3682	5453	SO:0001819	synonymous_variant	1770	exon1			TCGCACCGGGCCC	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.318C>T	17.37:g.11502133C>T			16	0	0		15	0.13	2	NM_001372	1	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																					0.726	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252756.2		NM_001372		T	11502133	C	T	11502133	2	4	11	1	0	0	0	0	0	0	0	1	4613	639	23	1		1	DNAH9	17	11502133	Silent	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	6812497	11502133	69693077	42	729											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		218	0.0504587156	11		201	0.08	17	NM_145301	13	0.38	5	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	11	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	3954954	15457087	65738123	43	730											
SREBF1	6720	broad.mit.edu	37	chr17	17740045	17740045	+	Frame_Shift_Del	DEL	G	G	-																															gcccgccctgacgcaccttcGatgtcggtcagcagcgccgc																										TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:17740045delG	ENST00000261646.5	-	1	271	c.87delC	c.(85-87)atcfs	p.I29fs	SREBF1_ENST00000355815.4_Frame_Shift_Del_p.I29fs|SREBF1_ENST00000338854.5_Frame_Shift_Del_p.I29fs|SREBF1_ENST00000435530.2_Frame_Shift_Del_p.I29fs	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	29	Transcriptional activation (acidic).				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						ACGCACCTTCGATGTCGGTCA	0.721																																					p.I29fs													.	SREBF1	47		0			c.87delC												8	7	7					17																	17740045		2069	4084	6153	SO:0001589	frameshift_variant	6720	exon1			ACCTTCGATGTCG	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.87delC	17.37:g.17740045delG	ENSP00000261646:p.Ile29fs		8	0	0		6	0.33	2	NM_004176	9	0	0	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Frame_Shift_Del	DEL	ENST00000261646.5	37	CCDS11189.1																																																																																					0.721	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131771.1		NM_004176		-	17740045	G	-	17740045	7	5	11	1	0	1	0	1	0	0	0	0	15164	1048	37	0	3526	0	SREBF1	17	17740045	Frame_Shift_Del	DEL	G	TCGA-2G-AAFL-01A-21D-A42Y-10	2282958	17740045	63455165	44	731	1	2									
SREBF1	6720	broad.mit.edu	37	chr17	17740047	17740047	+	Frame_Shift_Del	DEL	T	T	-																															ccgccctgacgcaccttcgaTgtcggtcagcagcgccgcgt																										TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:17740047delT	ENST00000261646.5	-	1	269	c.85delA	c.(85-87)atcfs	p.I29fs	SREBF1_ENST00000355815.4_Frame_Shift_Del_p.I29fs|SREBF1_ENST00000338854.5_Frame_Shift_Del_p.I29fs|SREBF1_ENST00000435530.2_Frame_Shift_Del_p.I29fs	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	29	Transcriptional activation (acidic).				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						GCACCTTCGATGTCGGTCAGC	0.721																																					p.I29fs													.	SREBF1	47		0			c.85delA												8	7	8					17																	17740047		2069	4090	6159	SO:0001589	frameshift_variant	6720	exon1			CTTCGATGTCGGT	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.85delA	17.37:g.17740047delT	ENSP00000261646:p.Ile29fs		8	0	0		6	0.33	2	NM_004176	9	0	0	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Frame_Shift_Del	DEL	ENST00000261646.5	37	CCDS11189.1																																																																																					0.721	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131771.1		NM_004176		-	17740047	T	-	17740047	7	5	11	1	0	1	0	1	0	0	0	0	15164	1464	51	0	3528	0	SREBF1	17	17740047	Frame_Shift_Del	DEL	T	TCGA-2G-AAFL-01A-21D-A42Y-10	2	17740047	63455163	45	732	1	2									
MYO15A	51168	broad.mit.edu	37	chr17	18023051	18023051	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacggctacgacgattacGaacccccatatgcgcccccg	9	6	9	17	6	0	0	0	0	0	0	0	3	0	0	4	1	5	2	4	1	5	4			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:18023051G>T	ENST00000205890.5	+	2	1275	c.937G>T	c.(937-939)Gaa>Taa	p.E313*		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	313					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)	p.E313K(1)		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)					CGACGATTACGAACCCCCATA	0.612																																					p.E313X													MYO15A,NS,carcinoma,0,1	MYO15A	268	1	1	Substitution - Missense(1)	breast(1)	c.G937T												47	54	52					17																	18023051		1916	4112	6028	SO:0001587	stop_gained	51168	exon2			GATTACGAACCCC	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.937G>T	17.37:g.18023051G>T	ENSP00000205890:p.Glu313*		56	0	0		54	0.06	3	NM_016239	0		0	B4DFC7	Nonsense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	36	5.761066	0.96906	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.82	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	16.3486	0.83191	0.0:0.1324:0.8676:0.0	.	.	.	.	X	313	.	ENSP00000205890:E313X	E	+	1	0	MYO15A	17963776	0.162000	0.22906	0.845000	0.33349	0.015000	0.08874	2.752000	0.47516	1.427000	0.47276	0.561000	0.74099	GAA			0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132048.1		NM_016239		T	18023051	G	T	18023051	4	4	11	1	0	0	0	0	0	1	0	0	10079	1059	37	1	939	1	MYO15A	17	18023051	Nonsense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	283004	18023051	63172159	46	733											
KRT23	25984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39092824	39092824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccatggaaggaggccgagGgggtctggctgaagctgtgt	7	7	19	8	2	1	1	0	1	1	0	1	4	1	3	2	6	1	2	2	6	2	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:39092824G>T	ENST00000209718.3	-	2	456	c.32C>A	c.(31-33)cCc>cAc	p.P11H	KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	11	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGAGGCCGAGGGGGTCTGGCT	0.701																																					p.P11H													.	.			0			c.C32A												28	33	31					17																	39092824		2192	4272	6464	SO:0001583	missense	25984	exon2			GCCGAGGGGGTCT	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.32C>A	17.37:g.39092824G>T	ENSP00000209718:p.Pro11His		237	0	0		201	0.11	22	NM_015515	4	0.25	1	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	G	4.074	0.011602	0.07912	.	.	ENSG00000108244	ENST00000209718	D	0.82167	-1.58	5.73	5.8E-4	0.14042	.	1.150020	0.06464	N	0.729943	T	0.65133	0.2662	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46162	-0.9211	10	0.26408	T	0.33	.	1.6881	0.02845	0.1965:0.0995:0.3207:0.3833	.	11	Q9C075	K1C23_HUMAN	H	11	ENSP00000209718:P11H	ENSP00000209718:P11H	P	-	2	0	KRT23	36346350	0.247000	0.23920	0.000000	0.03702	0.014000	0.08584	0.113000	0.15499	-0.202000	0.10268	-0.321000	0.08615	CCC			0.701	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257223.1				T	39092824	G	T	39092824	3	4	11	1	0	0	0	0	1	0	0	0	8475	1232	43	3	1268	3	KRT23	17	39092824	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	21069773	39092824	42102386	47	734											
LRRC37A	9884	broad.mit.edu	37	chr17	44409918	44409918	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgtttttttttttagCtcaaaaaagaagttccagga	11	18	8	4	0	1	1	1	0	0	1	2	2	2	2	1	1	1	3	1	1	5	8			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:44409918C>T	ENST00000320254.5	+	10	4708	c.4705C>T	c.(4705-4707)Ctc>Ttc	p.L1569F	ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000393465.3_Splice_Site_p.L1569F|LRRC37A_ENST00000496930.1_Splice_Site_p.L607F|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000575698.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1569						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTTTTTTTAGCTCAAAAAAGA	0.323																																					p.L1569F													.	LRRC37A	19		0			c.C4705T												76	117	103					17																	44409918		2188	4284	6472	SO:0001630	splice_region_variant	9884	exon10			TTTTAGCTCAAAA	BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.4705-1C>T	17.37:g.44409918C>T			223	0.0134529148	3		302	0.04	13	NM_014834	72	0	0	Q68DY2|Q8IWC7	Splice_Site	SNP	ENST00000320254.5	37	CCDS11504.2	.	.	.	.	.	.	.	.	.	.	c	3.038	-0.198190	0.06219	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.51817	0.69;0.69;0.69	2.49	1.46	0.22682	.	.	.	.	.	T	0.40067	0.1102	L	0.55743	1.74	0.23524	N	0.997495	B;P;B	0.35700	0.206;0.516;0.01	B;B;B	0.37422	0.133;0.249;0.003	T	0.24190	-1.0167	8	.	.	.	.	5.6895	0.17821	0.0:0.8391:0.0:0.1609	.	607;689;1569	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	F	607;1569;1569;1569	ENSP00000437021:L607F;ENSP00000377108:L1569F;ENSP00000326324:L1569F	.	L	+	1	0	LRRC37A	41765680	0.059000	0.20769	0.159000	0.22649	0.353000	0.29299	-0.029000	0.12329	0.573000	0.29400	0.423000	0.28283	CTC			0.323	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313519.3		NM_014834	Missense_Mutation	T	44409918	C	T	44409918	5	4	11	1	0	0	0	0	0	0	1	0	9007	811	28	2	4743	2	LRRC37A	17	44409918	Splice_Site	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	5317094	44409918	36785292	48	735											
HOXB4	3214	mdanderson.org	37	chr17	46655235	46655235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcactcacccgtgctcacGtgaactttgcgcatccaggg	8	8	10	15	4	2	1	2	1	0	0	3	1	3	1	2	1	3	3	2	1	1	1			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:46655235G>A	ENST00000332503.5	-	1	2238	c.447C>T	c.(445-447)caC>caT	p.H149H	HOXB3_ENST00000552000.2_Intron|MIR10A_ENST00000385043.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	149					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CCGTGCTCACGTGAACTTTGC	0.687																																					p.H149H													.	.			0			c.C447T												22	26	25					17																	46655235		2168	4218	6386	SO:0001819	synonymous_variant	3214	exon1			GCTCACGTGAACT		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.447C>T	17.37:g.46655235G>A			32	0	0		44	0.07	3	NM_024015	0		0	Q9NTA0	Silent	SNP	ENST00000332503.5	37	CCDS11529.1																																																																																					0.687	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358259.2				A	46655235	G	A	46655235	2	1	11	1	0	0	0	0	0	0	0	1	7318	1136	40	1		1	HOXB4	17	46655235	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	2245317	46655235	34539975	49	736											
SLC39A11	201266	mdanderson.org	37	chr17	70645040	70645040	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgggctcagccagcacCacggcaaaggcaccaaagac	14	2	12	13	1	1	1	1	0	0	1	1	2	1	2	3	4	2	4	3	4	2	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:70645040C>A	ENST00000542342.2	-	9	940	c.852G>T	c.(850-852)gtG>gtT	p.V284V	SLC39A11_ENST00000255559.3_Silent_p.V277V|SLC39A11_ENST00000579988.1_5'UTR	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	284					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CAGCCAGCACCACGGCAAAGG	0.622																																					p.V284V	NSCLC(95;736 1527 12296 39625 41839)												.	.			0			c.G852T												58	54	55					17																	70645040		2203	4300	6503	SO:0001819	synonymous_variant	201266	exon9			CAGCACCACGGCA	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"Solute carriers"	14463	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 26"	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.852G>T	17.37:g.70645040C>A			55	0	0		83	0.06	5	NM_001159770	22	0	0	B2R8H7|Q8WZ81	Silent	SNP	ENST00000542342.2	37	CCDS54160.1																																																																																					0.622	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000441442.1				A	70645040	C	A	70645040	2	1	11	1	0	0	0	0	0	0	0	1	14637	581	21	3		3	SLC39A11	17	70645040	Silent	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	23989805	70645040	10550170	50	737											
FASN	2194	broad.mit.edu	37	chr17	80041214	80041214	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgcacaagcgcccacAcctcccgccagtcagcactg	8	4	9	20	3	1	0	1	0	0	0	2	0	2	0	5	1	3	2	5	1	1	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr17:80041214A>C	ENST00000306749.2	-	32	5647	c.5429T>G	c.(5428-5430)gTg>gGg	p.V1810G	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1810	Enoyl reductase. {ECO:0000250}.				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)	AAGCGCCCACACCTCCCGCCA	0.637																																					p.V1810G	Colon(59;314 1043 11189 28578 32273)												.	FASN	154		0			c.T5429G												65	64	64					17																	80041214		2199	4298	6497	SO:0001583	missense	2194	exon32			GCCCACACCTCCC	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.5429T>G	17.37:g.80041214A>C	ENSP00000304592:p.Val1810Gly		82	0.2195121951	18		90	0.33	30	NM_004104	112	0.08	9	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870320	0.51588	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.04502	3.61	4.25	4.25	0.50352	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.306795	0.31020	N	0.008405	T	0.27241	0.0668	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.21008	-1.0258	10	0.87932	D	0	-33.2021	13.4806	0.61334	1.0:0.0:0.0:0.0	.	1810	P49327	FAS_HUMAN	G	1810;775	ENSP00000304592:V1810G	ENSP00000304592:V1810G	V	-	2	0	FASN	77634503	1.000000	0.71417	0.566000	0.28421	0.017000	0.09413	8.775000	0.91772	1.760000	0.52011	0.459000	0.35465	GTG			0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442369.1		NM_004104		C	80041214	A	C	80041214	3	2	11	1	0	0	0	0	1	0	0	0	5696	159	6	4	2154	4	FASN	17	80041214	Missense_Mutation	SNP	A	TCGA-2G-AAFL-01A-21D-A42Y-10	9396174	80041214	1153996	51	738											
MAP1S	55201	mdanderson.org	37	chr19	17837105	17837105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccggcctcaacagcctGctgcggcgcaaactggcgga	7	5	12	17	4	1	0	1	0	0	0	2	1	2	1	4	4	5	2	4	4	2	0	rs547493369		TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr19:17837105G>A	ENST00000324096.4	+	5	1063	c.912G>A	c.(910-912)ctG>ctA	p.L304L	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.L278L|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	304	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCAACAGCCTGCTGCGGCGCA	0.697													G|||	1	0.000199681	8e-04	0	5008	,	,		13243	0		0	False		,,,				2504	0				p.L304L													.	.			0			c.G912A												12	13	13					19																	17837105		2195	4290	6485	SO:0001819	synonymous_variant	55201	exon5			CAGCCTGCTGCGG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.912G>A	19.37:g.17837105G>A			31	0	0		39	0.08	3	NM_018174	71	0	0	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	CCDS32954.1																																																																																					0.697	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466027.1		NM_018174		A	17837105	G	A	17837105	2	1	11	1	0	0	0	0	0	0	0	1	9250	1306	46	2		2	MAP1S	19	17837105	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		17837105	41291878	52	739											
TIMM50	92609	mdanderson.org	37	chr19	39971461	39971461	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggcgggcgaagagggagCgagtgggcggggccgcgtgg	5	2	26	8	7	0	1	0	0	0	1	0	4	0	2	1	8	1	0	1	8	1	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr19:39971461C>T	ENST00000607714.1	+	0	0				TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000314349.4_Nonsense_Mutation_p.R93*|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAAGAGGGAGCGAGTGGGCGG	0.731																																					p.R93X													.	.			0			c.C277T												11	13	13					19																	39971461		2163	4203	6366	SO:0001631	upstream_gene_variant	92609	exon1			AGGGAGCGAGTGG	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971461C>T	Exception_encountered		44	0	0		28	0.07	2	NM_001001563	0		0	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Nonsense_Mutation	SNP	ENST00000607714.1	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.431843	0.83776	.	.	ENSG00000105197	ENST00000314349	.	.	.	2.55	-0.905	0.10527	.	1.256220	0.06100	N	0.665240	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	11.689	5.0666	0.14585	0.0:0.4968:0.0:0.5032	.	.	.	.	X	93	.	.	R	+	1	2	TIMM50	44663301	0.001000	0.12720	0.012000	0.15200	0.044000	0.14063	-0.719000	0.04974	-0.107000	0.12088	0.449000	0.29647	CGA			0.731	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470728.1		NM_001001563		T	39971461	C	T	39971461	1	4	11	0	1	0	0	0	0	0	0	0	15936	760	27	1		1	TIMM50	19	39971461	5'Flank	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	22134356	39971461	19157522	53	740											
ERCC2	2068	broad.mit.edu	37	chr19	45855573	45855573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtgctcctggatccagCggggcagcttcccccgcttg	4	9	14	14	2	0	1	0	1	0	0	3	2	3	2	4	4	3	4	4	4	0	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr19:45855573C>T	ENST00000391945.4	-	22	2161	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	ERCC2_ENST00000391944.3_Missense_Mutation_p.R617H	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	695					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGGATCCAGCGGGGCAGCTT	0.652			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.R695H			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"		E	.	ERCC2	78		0			c.G2084A												89	70	77					19																	45855573		2203	4300	6503	SO:0001583	missense	2068	exon22	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ATCCAGCGGGGCA		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2084G>A	19.37:g.45855573C>T	ENSP00000375809:p.Arg695His		85	0.0117647059	1		69	0.06	4	NM_000400	124	0	0	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614473	0.87359	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D;D	0.92595	-3.07;-2.97;-2.97	5.27	5.27	0.74061	.	0.059919	0.64402	D	0.000002	D	0.93207	0.7836	L	0.52126	1.63	0.80722	D	1	B;B;D	0.69078	0.066;0.334;0.997	B;B;P	0.61070	0.096;0.166;0.883	D	0.93163	0.6559	10	0.62326	D	0.03	-27.7118	11.4849	0.50348	0.1795:0.8205:0.0:0.0	.	617;695;388	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	H	645;671;695;617	ENSP00000375805:R645H;ENSP00000375809:R695H;ENSP00000375808:R617H	ENSP00000375805:R645H	R	-	2	0	ERCC2	50547413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.104000	0.64584	2.461000	0.83175	0.561000	0.74099	CGC			0.652	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109626.2		NM_000400		T	45855573	C	T	45855573	3	4	11	1	0	0	0	0	1	0	0	0	5220	768	27	1	206	1	ERCC2	19	45855573	Missense_Mutation	SNP	C	TCGA-2G-AAFL-01A-21D-A42Y-10	5884112	45855573	13273410	54	741											
C19orf51	352909	mdanderson.org	37	chr19	55673073	55673073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgcgccgggcgtcgtagcGggagcccaggtagtggcgca	6	4	18	13	7	0	0	0	0	0	0	1	1	0	1	3	4	2	3	3	4	2	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr19:55673073G>T	ENST00000524407.2	-	6	634	c.601C>A	c.(601-603)Cgc>Agc	p.R201S	DNAAF3_ENST00000527223.2_Missense_Mutation_p.R269S|DNAAF3_ENST00000391720.4_Missense_Mutation_p.R248S|DNAAF3_ENST00000587789.2_5'Flank|DNAAF3_ENST00000455045.1_Missense_Mutation_p.R147S|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	201					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GCGTCGTAGCGGGAGCCCAGG	0.726																																					p.R269S													.	.			0			c.C805A												3	5	4					19																	55673073		1816	3867	5683	SO:0001583	missense	352909	exon6			CGTAGCGGGAGCC	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.601C>A	19.37:g.55673073G>T	ENSP00000432046:p.Arg201Ser		24	0	0		27	0.07	2	NM_001256714	17	0	0	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072038	0.93950	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.56444	0.46;0.46	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.75243	0.3823	M	0.85197	2.74	0.53688	D	0.999974	P;D;D;D	0.89917	0.945;1.0;1.0;0.993	P;D;D;P	0.91635	0.51;0.999;0.998;0.851	T	0.80999	-0.1131	10	0.87932	D	0	-22.7741	16.123	0.81375	0.0:0.0:1.0:0.0	.	269;147;222;201	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	S	269;147;248	ENSP00000394343:R147S;ENSP00000375600:R248S	ENSP00000301249:R269S	R	-	1	0	C19orf51	60364885	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.505000	0.73708	2.153000	0.67306	0.555000	0.69702	CGC			0.726	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000250388.5		NM_178837		T	55673073	G	T	55673073	3	4	11	1	0	0	0	0	1	0	0	0	1935	1116	39	1	1052	1	C19orf51	19	55673073	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	9817500	55673073	3455910	55	742											
ITSN1	6453	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	35144498	35144498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagcgggcggagcaggaGaggaaggagcgtgagcgcca	10	2	21	8	4	0	2	0	1	0	1	0	7	0	6	1	6	4	1	1	6	1	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr21:35144498G>A	ENST00000381318.3	+	12	1464	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399338.4_Silent_p.E392E|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399326.3_Silent_p.E392E|ITSN1_ENST00000399353.1_Silent_p.E355E|ITSN1_ENST00000381291.4_Silent_p.E392E|ITSN1_ENST00000399367.3_Silent_p.E392E|ITSN1_ENST00000399352.1_Silent_p.E392E|ITSN1_ENST00000379960.5_Silent_p.E392E|ITSN1_ENST00000399355.2_Silent_p.E392E|ITSN1_ENST00000437442.2_Silent_p.E392E|ITSN1_ENST00000399349.1_Silent_p.E392E|ITSN1_ENST00000381285.4_Silent_p.E392E	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	392	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CGGAGCAGGAGAGGAAGGAGC	0.607																																					p.E392E													.	.			0			c.G1176A												55	62	60					21																	35144498		2203	4300	6503	SO:0001819	synonymous_variant	6453	exon12			GCAGGAGAGGAAG	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1176G>A	21.37:g.35144498G>A			121	0	0		165	0.1	17	NM_001001132	10	0.3	3	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																					0.607	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000140070.4		NM_003024		A	35144498	G	A	35144498	2	1	11	1	0	0	0	0	0	0	0	1	7941	933	33	3		3	ITSN1	21	35144498	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		35144498	12985397	56	743											
IL17REL	400935	mdanderson.org	37	chr22	50439249	50439249	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgacactgcgtctcctgGgtgtccaggctcatggcaca	6	10	11	14	1	3	1	1	1	2	0	5	1	4	1	2	3	1	2	2	3	0	0			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chr22:50439249G>T	ENST00000389983.2	-	5	417	c.153C>A	c.(151-153)acC>acA	p.T51T	IL17REL_ENST00000341280.5_Silent_p.T51T	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	51										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)		GCGTCTCCTGGGTGTCCAGGC	0.721																																					p.T51T													.	.			0			c.C153A												15	18	17					22																	50439249		2197	4294	6491	SO:0001819	synonymous_variant	400935	exon5			CTCCTGGGTGTCC	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.153C>A	22.37:g.50439249G>T			37	0	0		29	0.1	3	NM_001001694	0		0	A6NCN4|A6PVC1	Silent	SNP	ENST00000389983.2	37	CCDS33679.1																																																																																					0.721	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317011.1		NM_001001694		T	50439249	G	T	50439249	2	4	11	1	0	0	0	0	0	0	0	1	7659	1219	43	3		3	IL17REL	22	50439249	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10		50439249	865317	57	744											
FAM48B1	100130302	bcgsc.ca	37	chrX	24382372	24382372	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattttctgctgctgctgctAttgctgctgctgctgctgct	2	17	10	12	0	1	0	0	0	1	0	1	0	1	0	0	0	10	10	0	0	1	4	rs2695489		TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chrX:24382372A>G								AC004552.1 (15349 upstream) : PDK3 (100965 downstream)																							tgctgctgctattgctgctgc	0.577																																					p.I499V													.	.			0			c.A1495G												10	8	8					X																	24382372		1496	3415	4911	SO:0001628	intergenic_variant	0	exon1			GCTGCTATTGCTG																													X.37:g.24382372A>G			218	0.0366972477	8		224	0.11	24	NM_001136234	0		0		RNA	SNP		37																																																																																					0	0.577											G	24382372	A	G	24382372	1	3	11	0	1	0	0	0	0	0	0	0	5586	449	16	4		4	FAM48B1	23	24382372	IGR	SNP	A	TCGA-2G-AAFL-01A-21D-A42Y-10		24382372	130888188	58	745											
HUWE1	10075	broad.mit.edu	37	chrX	53622246	53622246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcgcgcggcaggtgtcGgtgctgtagtggtgctggca	4	11	18	8	4	0	1	0	1	0	0	2	1	0	1	0	5	2	5	0	5	1	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chrX:53622246G>T	ENST00000342160.3	-	29	3738	c.3281C>A	c.(3280-3282)cCg>cAg	p.P1094Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.P1094Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.P1094Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1094					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						GGCAGGTGTCGGTGCTGTAGT	0.542																																					p.P1094Q													.	HUWE1	724		0			c.C3281A												99	70	80					X																	53622246		2203	4300	6503	SO:0001583	missense	10075	exon30			GGTGTCGGTGCTG	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.3281C>A	X.37:g.53622246G>T	ENSP00000340648:p.Pro1094Gln		97	0	0		101	0.04	4	NM_031407	1	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510054	0.85282	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.50548	1.03;1.03;0.74	5.67	4.8	0.61643	.	0.062472	0.64402	D	0.000005	T	0.67683	0.2919	M	0.72894	2.215	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.71833	-0.4473	10	0.87932	D	0	.	14.7374	0.69424	0.0:0.1421:0.8579:0.0	.	1094	Q7Z6Z7	HUWE1_HUMAN	Q	1094	ENSP00000340648:P1094Q;ENSP00000262854:P1094Q;ENSP00000218328:P1094Q	ENSP00000218328:P1094Q	P	-	2	0	HUWE1	53638971	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	8.894000	0.92506	1.257000	0.44085	0.594000	0.82650	CCG			0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056766.1		XM_497119		T	53622246	G	T	53622246	3	4	11	1	0	0	0	0	1	0	0	0	7476	1116	39	1	10063	1	HUWE1	23	53622246	Missense_Mutation	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	29239874	53622246	101648314	59	746											
FAM123B	139285	broad.mit.edu	37	chrX	63412939	63412939	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaacctttgctccgTccccctccaaagaaactagg	10	9	6	16	1	0	2	0	0	0	2	4	2	4	2	6	1	3	1	6	1	4	3			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chrX:63412939T>C	ENST00000330258.3	-	2	500	c.228A>G	c.(226-228)ggA>ggG	p.G76G	AMER1_ENST00000374869.3_Silent_p.G76G|AMER1_ENST00000403336.1_Silent_p.G76G	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	76					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTTTGCTCCGTCCCCCTCCAA	0.537																																					p.G76G													.	.			67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.A228G												129	102	111					X																	63412939		2203	4300	6503	SO:0001819	synonymous_variant	139285	exon2			GCTCCGTCCCCCT	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.228A>G	X.37:g.63412939T>C			129	0	0		110	0.03	3	NM_152424	0		0	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																					0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316584.1		NM_152424		C	63412939	T	C	63412939	2	2	11	1	0	0	0	0	0	0	0	1	5433	1654	58	4		4	FAM123B	23	63412939	Silent	SNP	T	TCGA-2G-AAFL-01A-21D-A42Y-10	9790693	63412939	91857621	60	747											
CHM	1121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	85218961	85218961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctccgtaggcaggaaGgcagaatctgcagcttctgt	9	10	11	11	1	3	1	1	0	2	1	5	2	5	2	2	3	2	5	2	3	3	2			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chrX:85218961G>A	ENST00000357749.2	-	5	440	c.411C>T	c.(409-411)gcC>gcT	p.A137A	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	137					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TAGGCAGGAAGGCAGAATCTG	0.458																																					p.A137A													.	.			0			c.C411T												86	75	78					X																	85218961		2203	4300	6503	SO:0001819	synonymous_variant	1121	exon5			CAGGAAGGCAGAA	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.411C>T	X.37:g.85218961G>A			101	0	0		125	0.26	33	NM_000390	1	0	0	A1L4D2|O43732	Silent	SNP	ENST00000357749.2	37	CCDS14454.1																																																																																					0.458	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057396.3		NM_000390		A	85218961	G	A	85218961	2	1	11	1	0	0	0	0	0	0	0	1	3352	987	35	3		3	CHM	23	85218961	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	21806022	85218961	70051599	61	748											
RNF113A	7737	mdanderson.org	37	chrX	119005138	119005138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatcttgtcatcctcctTgcccctcagctcctcctgga	6	13	6	16	0	3	1	2	0	1	1	7	2	7	2	6	1	2	1	6	1	1	3			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chrX:119005138T>C	ENST00000371442.2	-	1	653	c.439A>G	c.(439-441)Aag>Gag	p.K147E	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	147							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TCATCCTCCTTGCCCCTCAGC	0.512																																					p.K147E													.	.			0			c.A439G												373	347	356					X																	119005138		2203	4300	6503	SO:0001583	missense	7737	exon1			CCTCCTTGCCCCT	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.439A>G	X.37:g.119005138T>C	ENSP00000360497:p.Lys147Glu		42	0	0		42	0.07	3	NM_006978	49	0	0	B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199008	0.58126	.	.	ENSG00000125352	ENST00000371442	T	0.32023	1.47	5.49	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.54323	1.7	0.58432	D	0.999998	P	0.38395	0.629	B	0.30029	0.11	T	0.02588	-1.1137	10	0.44086	T	0.13	-8.3392	9.8468	0.41032	0.0:0.0:0.1702:0.8298	.	147	O15541	R113A_HUMAN	E	147	ENSP00000360497:K147E	ENSP00000360497:K147E	K	-	1	0	RNF113A	118889166	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.854000	0.62918	0.698000	0.31739	0.486000	0.48141	AAG			0.512	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058071.1		NM_006978		C	119005138	T	C	119005138	3	2	11	1	0	0	0	0	1	0	0	0	13450	1821	63	4	596	4	RNF113A	23	119005138	Missense_Mutation	SNP	T	TCGA-2G-AAFL-01A-21D-A42Y-10	33786177	119005138	36265422	62	749											
FLNA	2316	broad.mit.edu	37	chrX	153595838	153595838	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttcagcttggccttGgggaactgggacaggtaggt	6	10	16	9	0	1	0	1	0	0	0	1	2	1	2	2	7	2	3	2	7	2	4			TCGA-2G-AAFL-01A-21D-A42Y-10	TCGA-2G-AAFL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	333fc09a-ce23-4f10-a8b7-86fa54bd8184	a4aa42af-abd7-409c-a27c-12fbfe1801fd	g.chrX:153595838G>T	ENST00000369850.3	-	5	1031	c.795C>A	c.(793-795)ccC>ccA	p.P265P	FLNA_ENST00000360319.4_Silent_p.P265P|FLNA_ENST00000422373.1_Silent_p.P265P|FLNA_ENST00000344736.4_Silent_p.P265P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	265	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)					GCTTGGCCTTGGGGAACTGGG	0.627																																					p.P265P													.	FLNA	373		0			c.C795A												72	78	76					X																	153595838		2197	4300	6497	SO:0001819	synonymous_variant	0	exon5			GGCCTTGGGGAAC	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.795C>A	X.37:g.153595838G>T			70	0	0		70	0.06	4	NM_001456	11	0	0	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	CCDS48194.1																																																																																					0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058942.3				T	153595838	G	T	153595838	2	4	11	1	0	0	0	0	0	0	0	1	5946	1335	47	3		3	FLNA	23	153595838	Silent	SNP	G	TCGA-2G-AAFL-01A-21D-A42Y-10	34590700	153595838	1674722	63	750											
CLCNKB	1188	broad.mit.edu	37	chr1	16383402	16383402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctgacaaatccgccagcCccaaagtgagccggcccagc	12	3	9	17	2	0	2	0	2	0	0	1	2	1	2	7	1	4	0	7	1	3	0	rs6698427		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr1:16383402C>T	ENST00000375679.4	+	20	2166	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	FAM131C_ENST00000494078.1_5'Flank|CLCNKB_ENST00000375667.3_Silent_p.A515A	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	685					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCGCCAGCCCCAAAGTGAG	0.587																																					p.A685A													.	CLCNKB	50		0			c.C2055T												66	64	65					1																	16383402		2203	4300	6503	SO:0001819	synonymous_variant	1188	exon20			GCCAGCCCCAAAG	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.2055C>T	1.37:g.16383402C>T			499	0.002004008	1		612	0.01	9	NM_000085	6	0	0	B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	CCDS168.1																																																																																					0.587	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000026331.1		NM_000085		T	16383402	C	T	16383402	2	4	12	1	0	0	0	0	0	0	0	1	3472	610	22	3		3	CLCNKB	1	16383402	Silent	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10		16383402	232867219	1	751											
SSBP3	23648	broad.mit.edu	37	chr1	54871665	54871665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagggcaccgccgagcctTtgcctttggcaaacatggtt	7	9	12	13	3	0	0	0	0	0	0	0	2	0	0	5	3	3	3	5	3	1	3			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr1:54871665T>C	ENST00000371320.3	-	1	427	c.17A>G	c.(16-18)aAa>aGa	p.K6R	SSBP3_ENST00000371319.3_Missense_Mutation_p.K6R|SSBP3_ENST00000357475.4_Missense_Mutation_p.K6R|SSBP3_ENST00000417664.2_5'Flank	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	6					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CGCCGAGCCTTTGCCTTTGGC	0.736																																					p.K6R													.	SSBP3	65		0			c.A17G												4	5	5					1																	54871665		2079	4010	6089	SO:0001583	missense	23648	exon1			GAGCCTTTGCCTT		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.17A>G	1.37:g.54871665T>C	ENSP00000360371:p.Lys6Arg		119	0.0084033613	1		142	0.05	7	NM_001009955	15	0	0	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	CCDS591.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645914	0.47258	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.64	2.64	0.31445	.	0.000000	0.46758	U	0.000271	T	0.45155	0.1328	L	0.38838	1.175	0.35702	D	0.815734	B;B;B	0.18968	0.02;0.004;0.032	B;B;B	0.24006	0.018;0.012;0.05	T	0.52540	-0.8562	9	0.62326	D	0.03	.	8.2855	0.31926	0.0:0.0:0.0:1.0	.	6;6;6	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	R	6	.	ENSP00000350067:K6R	K	-	2	0	SSBP3	54644253	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.586000	0.53950	0.978000	0.38470	0.240000	0.17902	AAA			0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022721.1		NM_018070		C	54871665	T	C	54871665	3	2	12	1	0	0	0	0	1	0	0	0	15204	1841	64	4	1221	4	SSBP3	1	54871665	Missense_Mutation	SNP	T	TCGA-2G-AAFM-01A-11D-A42Y-10	38488263	54871665	194378956	2	752											
SELL	6402	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	169680646	169680646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggctcaccatggctttGcttggtccttctctagttct	6	15	9	11	0	3	0	1	0	2	0	5	1	4	0	2	3	1	4	2	3	2	5			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr1:169680646G>C	ENST00000236147.4	-	1	193	c.33C>G	c.(31-33)agC>agG	p.S11R	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	0					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CCATGGCTTTGCTTGGTCCTT	0.507																																					p.S11R													.	SELL	43		0			c.C33G												112	99	103					1																	169680646		1943	4154	6097	SO:0001583	missense	6402	exon1			GGCTTTGCTTGGT	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.33C>G	1.37:g.169680646G>C	ENSP00000236147:p.Ser11Arg		76	0	0		78	0.06	5	NM_000655	6	0	0	B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631604	0.29068	.	.	ENSG00000188404	ENST00000236147	T	0.15139	2.45	3.76	2.82	0.32997	.	0.967441	0.08478	N	0.939918	T	0.03136	0.0092	N	0.14661	0.345	0.20821	N	0.999843	B	0.10296	0.003	B	0.06405	0.002	T	0.43475	-0.9389	10	0.21540	T	0.41	0.0309	9.2187	0.37364	0.0:0.2213:0.7787:0.0	.	11	Q8WW79	.	R	11	ENSP00000236147:S11R	ENSP00000236147:S11R	S	-	3	2	SELL	167947270	0.295000	0.24389	0.621000	0.29145	0.863000	0.49368	0.379000	0.20585	1.129000	0.42072	0.561000	0.74099	AGC			0.507	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084233.1		NM_000655		C	169680646	G	C	169680646	3	2	12	1	0	0	0	0	1	0	0	0	14039	1310	46	5	1160	5	SELL	1	169680646	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	114808981	169680646	79569975	3	753											
ACBD3	64746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	226334321	226334321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaacatttttatctagtaTaatagactctgtagtagact	15	15	5	6	0	2	2	0	0	2	2	2	2	2	2	0	0	2	3	0	0	9	9			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr1:226334321T>C	ENST00000366812.5	-	8	1631	c.1577A>G	c.(1576-1578)tAt>tGt	p.Y526C	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	526	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTATCTAGTATAATAGACTCT	0.393																																					p.Y526C													.	.			0			c.A1577G												57	60	59					1																	226334321		2203	4300	6503	SO:0001583	missense	64746	exon8			CTAGTATAATAGA	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1577A>G	1.37:g.226334321T>C	ENSP00000355777:p.Tyr526Cys		101	0	0		124	0.13	16	NM_022735	8	0.13	1	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844571	0.71488	.	.	ENSG00000182827	ENST00000366812	T	0.44083	0.93	5.74	5.74	0.90152	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77250	-0.2657	10	0.87932	D	0	-12.4839	16.0314	0.80579	0.0:0.0:0.0:1.0	.	526	Q9H3P7	GCP60_HUMAN	C	526	ENSP00000355777:Y526C	ENSP00000355777:Y526C	Y	-	2	0	ACBD3	224400944	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.635000	0.83286	2.193000	0.70182	0.402000	0.26972	TAT			0.393	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091528.1		NM_022735		C	226334321	T	C	226334321	3	2	12	1	0	0	0	0	1	0	0	0	123	1406	49	4	13	4	ACBD3	1	226334321	Missense_Mutation	SNP	T	TCGA-2G-AAFM-01A-11D-A42Y-10	56653675	226334321	22916300	4	754											
EXOC8	149371	broad.mit.edu	37	chr1	231472713	231472713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttcggcctggaaaataCggctctcggggaacataagc	11	9	11	10	3	1	0	0	0	1	0	3	2	1	2	1	5	3	1	1	5	5	4			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr1:231472713C>T	ENST00000360394.2	-	1	865	c.779G>A	c.(778-780)cGt>cAt	p.R260H	EXOC8_ENST00000366645.1_Missense_Mutation_p.R256H|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	260	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTGGAAAATACGGCTCTCGGG	0.517																																					p.R260H													.	EXOC8	42		0			c.G779A												76	76	76					1																	231472713		2203	4300	6503	SO:0001583	missense	149371	exon1			AAAATACGGCTCT	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.779G>A	1.37:g.231472713C>T	ENSP00000353564:p.Arg260His		135	0	0		162	0.03	5	NM_175876	0		0	B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762881	0.89932	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.75821	-0.97;-0.97	5.69	5.69	0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.81531	0.4842	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.55871	0.786	T	0.76342	-0.2994	10	0.15066	T	0.55	-12.2828	19.815	0.96564	0.0:1.0:0.0:0.0	.	260	Q8IYI6	EXOC8_HUMAN	H	260;256	ENSP00000353564:R260H;ENSP00000355605:R256H	ENSP00000353564:R260H	R	-	2	0	EXOC8	229539336	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.818000	0.86416	2.681000	0.91329	0.561000	0.74099	CGT			0.517	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_175876		T	231472713	C	T	231472713	3	4	12	1	0	0	0	0	1	0	0	0	5318	536	19	1	1402	1	EXOC8	1	231472713	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	5138392	231472713	17777908	5	755											
ALK	238	broad.mit.edu	37	chr2	29449808	29449808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcaggagacgccatccTcagccagcaccgtcccgtgg	9	5	11	16	3	1	1	1	0	0	1	3	2	3	1	5	2	3	2	5	2	1	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr2:29449808T>C	ENST00000389048.3	-	18	3953	c.3047A>G	c.(3046-3048)gAg>gGg	p.E1016G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1016					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)	GACGCCATCCTCAGCCAGCAC	0.562			"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																												p.E1016G			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	ALK,left_upper_lobe,carcinoma,+1,1	ALK	533	1	0			c.A3047G												180	163	169					2																	29449808		2203	4300	6503	SO:0001583	missense	238	exon18	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	CCATCCTCAGCCA	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.3047A>G	2.37:g.29449808T>C	ENSP00000373700:p.Glu1016Gly		84	0	0		79	0.04	3	NM_004304	0		0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	T	9.995	1.231973	0.22626	.	.	ENSG00000171094	ENST00000389048	T	0.77877	-1.13	5.38	5.38	0.77491	.	0.148155	0.30177	U	0.010239	T	0.68824	0.3043	L	0.38175	1.15	0.58432	D	0.999993	B	0.10296	0.003	B	0.09377	0.004	T	0.63409	-0.6644	9	.	.	.	.	15.0569	0.71921	0.0:0.0:0.0:1.0	.	1016	Q9UM73	ALK_HUMAN	G	1016	ENSP00000373700:E1016G	.	E	-	2	0	ALK	29303312	0.005000	0.15991	0.898000	0.35279	0.137000	0.21094	1.613000	0.36900	2.040000	0.60383	0.383000	0.25322	GAG			0.562	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324994.1		NM_004304		C	29449808	T	C	29449808	3	2	12	1	0	0	0	0	1	0	0	0	525	1551	54	4	1863	4	ALK	2	29449808	Missense_Mutation	SNP	T	TCGA-2G-AAFM-01A-11D-A42Y-10		29449808	213749565	6	756											
C2orf67	151050	mdanderson.org	37	chr2	210894633	210894633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcagattcttcaagtttaGttctttctcctgccatggaa	10	16	6	9	0	5	1	2	0	3	1	6	2	5	2	2	1	1	2	2	1	4	6			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr2:210894633G>T	ENST00000281772.9	-	10	2428	c.2165C>A	c.(2164-2166)aCt>aAt	p.T722N	RP11-260M2.1_ENST00000608095.1_RNA|KANSL1L_ENST00000418791.1_Missense_Mutation_p.T680N|AC007038.7_ENST00000452057.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	722						histone acetyltransferase complex (GO:0000123)											TTCAAGTTTAGTTCTTTCTCC	0.333																																					p.T722N													.	.			0			c.C2165A												127	123	124					2																	210894633		2203	4299	6502	SO:0001583	missense	151050	exon10			AGTTTAGTTCTTT	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2165C>A	2.37:g.210894633G>T	ENSP00000281772:p.Thr722Asn		87	0	0		50	0.06	3	NM_152519	0		0	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	G	6.917	0.538843	0.13250	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.5	-2.36	0.06663	.	0.498109	0.18237	N	0.147368	T	0.11324	0.0276	N	0.00677	-1.265	0.43292	D	0.995275	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.22487	-1.0215	9	0.08599	T	0.76	.	5.5226	0.16941	0.0687:0.1599:0.4567:0.3147	.	680;722	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	N	722;680	.	ENSP00000281772:T722N	T	-	2	0	C2orf67	210602878	0.038000	0.19896	0.696000	0.30242	0.810000	0.45777	0.004000	0.13106	-0.544000	0.06232	-0.797000	0.03246	ACT			0.333	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336633.3		NM_152519		T	210894633	G	T	210894633	3	4	12	1	0	0	0	0	1	0	0	0	2188	1029	36	3	822	3	C2orf67	2	210894633	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	181444825	210894633	32304740	7	757											
RQCD1	9125	broad.mit.edu;mdanderson.org	37	chr2	219458920	219458920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgacaccaccacgaaacGctggcttgcacaactggtga	13	6	10	12	2	0	3	0	2	0	1	0	4	0	3	2	2	3	3	2	2	2	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr2:219458920G>T	ENST00000273064.6	+	8	1196	c.821G>T	c.(820-822)cGc>cTc	p.R274L	RQCD1_ENST00000509807.2_Missense_Mutation_p.R306L|RQCD1_ENST00000542068.1_Missense_Mutation_p.R274L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	274					cytokine-mediated signaling pathway (GO:0019221)|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)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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)|sex differentiation (GO:0007548)|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)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCACGAAACGCTGGCTTGCA	0.582																																					p.R306L													.	RQCD1	32		0			c.G917T												111	100	104					2																	219458920		2203	4300	6503	SO:0001583	missense	9125	exon9			CGAAACGCTGGCT	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.821G>T	2.37:g.219458920G>T	ENSP00000273064:p.Arg274Leu		136	0	0		141	0.04	5	NM_001271634	40	0	0	B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423157	0.62733	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068	T;T;T	0.48522	0.81;0.81;0.81	5.71	4.83	0.62350	Armadillo-type fold (1);	0.094562	0.85682	D	0.000000	T	0.61060	0.2317	M	0.86097	2.795	0.80722	D	1	P;P	0.42973	0.796;0.586	P;B	0.47206	0.541;0.098	T	0.64019	-0.6505	10	0.30854	T	0.27	-11.7312	16.1593	0.81686	0.0:0.0:0.8656:0.1344	.	306;274	B7Z1E5;Q92600	.;RCD1_HUMAN	L	274;306;274	ENSP00000273064:R274L;ENSP00000441357:R306L;ENSP00000443687:R274L	ENSP00000273064:R274L	R	+	2	0	RQCD1	219167164	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.800000	0.99124	1.404000	0.46819	0.591000	0.81541	CGC			0.582	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336920.1		NM_005444		T	219458920	G	T	219458920	3	4	12	1	0	0	0	0	1	0	0	0	13693	1087	38	1	851	1	RQCD1	2	219458920	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	8564287	219458920	23740453	8	758											
USP40	55230	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	234394589	234394589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtcctctcaccagggaTgcgcacctgtgtcctcagca	8	9	10	14	1	2	0	2	0	1	0	5	1	4	1	4	2	2	2	4	2	1	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr2:234394589T>C	ENST00000427112.2	-	28	3264	c.3229A>G	c.(3229-3231)Atc>Gtc	p.I1077V	USP40_ENST00000251722.6_Missense_Mutation_p.I1077V|USP40_ENST00000450966.1_Missense_Mutation_p.I1089V|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1077					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)		TCACCAGGGATGCGCACCTGT	0.597																																					p.I1089V													.	.			0			c.A3265G												13	15	14					2																	234394589		2007	4161	6168	SO:0001583	missense	55230	exon28			CAGGGATGCGCAC	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.3229A>G	2.37:g.234394589T>C	ENSP00000387898:p.Ile1077Val		140	0	0		114	0.1	11	NM_018218	1	0	0	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	T	6.380	0.438151	0.12104	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.04970	3.52;3.52;3.52	5.61	2.04	0.26737	.	0.881642	0.09881	N	0.743733	T	0.03871	0.0109	N	0.16903	0.455	0.26270	N	0.97843	B	0.13145	0.007	B	0.12156	0.007	T	0.48736	-0.9009	10	0.09843	T	0.71	.	7.5396	0.27731	0.0:0.139:0.2721:0.5888	.	1089	Q9NVE5-3	.	V	1089;1077;1077	ENSP00000415434:I1089V;ENSP00000251722:I1077V;ENSP00000387898:I1077V	ENSP00000251722:I1077V	I	-	1	0	USP40	234059328	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	0.865000	0.27940	0.067000	0.16545	0.528000	0.53228	ATC			0.597	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000397235.1		XM_114294		C	234394589	T	C	234394589	3	2	12	1	0	0	0	0	1	0	0	0	17096	1464	51	4	494	4	USP40	2	234394589	Missense_Mutation	SNP	T	TCGA-2G-AAFM-01A-11D-A42Y-10	14935669	234394589	8804784	9	759											
RBM44	375316	mdanderson.org	37	chr2	238738115	238738115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacggcagctgggttctgaGcaagacagtgaggttttccc	8	9	13	11	1	1	3	0	2	1	1	2	3	2	3	2	3	2	5	2	3	1	3			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr2:238738115G>T	ENST00000409864.1	+	13	3113	c.2859G>T	c.(2857-2859)gaG>gaT	p.E953D	RBM44_ENST00000316997.4_Missense_Mutation_p.E953D			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	952						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGGGTTCTGAGCAAGACAGTG	0.408																																					p.E953D													.	.			0			c.G2859T												108	107	108					2																	238738115		1861	4098	5959	SO:0001583	missense	375316	exon13			TTCTGAGCAAGAC	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2859G>T	2.37:g.238738115G>T	ENSP00000386727:p.Glu953Asp		155	0	0		126	0.04	5	NM_001080504	0		0	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100294	0.20552	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.28454	1.61;1.61	4.37	2.53	0.30540	.	.	.	.	.	T	0.37625	0.1010	M	0.72118	2.19	0.20489	N	0.999896	D	0.56035	0.974	P	0.49853	0.624	T	0.16070	-1.0415	9	0.42905	T	0.14	-6.3804	6.2143	0.20646	0.2289:0.0:0.7711:0.0	.	952	Q6ZP01	RBM44_HUMAN	D	953	ENSP00000321179:E953D;ENSP00000386727:E953D	ENSP00000321179:E953D	E	+	3	2	RBM44	238402854	1.000000	0.71417	0.988000	0.46212	0.053000	0.15095	1.360000	0.34125	0.962000	0.38057	-0.277000	0.10078	GAG			0.408	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328733.2		NM_001080504		T	238738115	G	T	238738115	3	4	12	1	0	0	0	0	1	0	0	0	13161	962	34	2	2905	2	RBM44	2	238738115	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	4343526	238738115	4461258	10	760											
SLC4A7	9497	mdanderson.org	37	chr3	27493948	27493948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttggtgttcacagttgaGctagttttgccaagatccac	10	13	9	9	0	1	2	1	1	0	1	2	2	2	2	2	1	3	4	2	1	3	6			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr3:27493948G>T	ENST00000295736.5	-	2	145	c.75C>A	c.(73-75)agC>agA	p.S25R	SLC4A7_ENST00000445684.1_Missense_Mutation_p.S34R|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S30R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S30R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S34R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S30R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S34R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S30R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S34R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S25R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	25					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)	TCACAGTTGAGCTAGTTTTGC	0.318																																					p.S30R													.	.			0			c.C90A												109	101	104					3																	27493948		2203	4299	6502	SO:0001583	missense	9497	exon2			AGTTGAGCTAGTT	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.75C>A	3.37:g.27493948G>T	ENSP00000295736:p.Ser25Arg		50	0	0		46	0.07	3	NM_001258379	0		0	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	7.904	0.735109	0.15574	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.78816	-1.1;-1.12;-1.1;-1.19;-1.12;-1.21;-1.12;-1.19;-1.12;0.3;-1.12	5.55	2.4	0.29515	.	0.042030	0.85682	D	0.000000	T	0.59542	0.2201	N	0.25286	0.73	0.47276	D	0.999375	B;B;B;P;B;B;B;B;B	0.45902	0.381;0.0;0.381;0.868;0.392;0.017;0.001;0.392;0.0	B;B;B;B;B;B;B;B;B	0.40477	0.193;0.004;0.193;0.33;0.084;0.029;0.004;0.084;0.004	T	0.52411	-0.8579	10	0.25106	T	0.35	.	7.2363	0.26072	0.4148:0.0:0.5852:0.0	.	34;30;30;34;34;30;25;25;30	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	R	25;25;34;34;30;30;30;34;34;30;25	ENSP00000295736:S25R;ENSP00000416368:S25R;ENSP00000390394:S34R;ENSP00000414797:S34R;ENSP00000394252:S30R;ENSP00000406605:S30R;ENSP00000407382:S30R;ENSP00000406804:S34R;ENSP00000395336:S34R;ENSP00000401949:S30R;ENSP00000388703:S25R	ENSP00000295736:S25R	S	-	3	2	SLC4A7	27468952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.584000	0.46102	0.711000	0.32018	0.591000	0.81541	AGC			0.318	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000341230.2		NM_003615		T	27493948	G	T	27493948	3	4	12	1	0	0	0	0	1	0	0	0	14681	962	34	2	3665	2	SLC4A7	3	27493948	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		27493948	170528482	11	761											
ACTR8	93973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	53910015	53910015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatcctccacacagcataCacttgtcttctggtccccaa	9	10	4	18	0	2	0	0	0	2	0	5	0	5	0	5	1	2	1	5	1	2	3	rs375966881		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr3:53910015C>T	ENST00000335754.3	-	7	971	c.871G>A	c.(871-873)Gta>Ata	p.V291I	ACTR8_ENST00000482349.1_Missense_Mutation_p.V180I|ACTR8_ENST00000231909.7_Missense_Mutation_p.V41I	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	291					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ACACAGCATACACTTGTCTTC	0.517																																					p.V291I													.	.			0			c.G871A							C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	174	157	163		871	4.1	0.1	3		163	0,8600		0,0,4300	no	missense	ACTR8	NM_022899.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	291/625	53910015	1,13005	2203	4300	6503	SO:0001583	missense	93973	exon7			AGCATACACTTGT		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.871G>A	3.37:g.53910015C>T	ENSP00000336842:p.Val291Ile		192	0	0		159	0.15	24	NM_022899	25	0.36	9	B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	4.055	0.007850	0.07866	2.27E-4	0.0	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	D;D;D	0.97941	-3.81;-3.81;-4.62	5.87	4.09	0.47781	.	0.209938	0.42172	N	0.000747	D	0.90745	0.7095	N	0.03967	-0.31	0.24058	N	0.996026	B;B	0.10296	0.003;0.0	B;B	0.19946	0.027;0.001	T	0.80587	-0.1316	10	0.14252	T	0.57	7.6953	9.5325	0.39202	0.0:0.7857:0.0:0.2143	.	291;41	Q9H981;Q9H981-3	ARP8_HUMAN;.	I	291;180;41	ENSP00000336842:V291I;ENSP00000419429:V180I;ENSP00000231909:V41I	ENSP00000231909:V41I	V	-	1	0	ACTR8	53885055	0.103000	0.21917	0.093000	0.20910	0.729000	0.41735	0.584000	0.23864	0.945000	0.37605	0.655000	0.94253	GTA			0.517	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350562.2		NM_022899		T	53910015	C	T	53910015	3	4	12	1	0	0	0	0	1	0	0	0	217	478	17	3	1031	3	ACTR8	3	53910015	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	26416067	53910015	144112415	12	762											
LEKR1	389170	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	156763256	156763256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtttaccattctcacCgtgttccctcagcaagggca	9	11	9	12	1	2	0	2	0	1	0	4	1	3	1	3	2	2	4	3	2	3	4	rs150686576		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr3:156763256C>A	ENST00000470811.1	+	14	2219	c.884C>A	c.(883-885)cCg>cAg	p.P295Q	LEKR1_ENST00000356539.4_Missense_Mutation_p.P599Q			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	295										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCATTCTCACCGTGTTCCCTC	0.493																																					p.P599Q													.	LEKR1	66		0			c.C1796A												93	93	93					3																	156763256		2203	4300	6503	SO:0001583	missense	389170	exon13			TCTCACCGTGTTC	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.884C>A	3.37:g.156763256C>A	ENSP00000418214:p.Pro295Gln		162	0.0061728395	1		146	0.1	14	NM_001004316	0		0		Missense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	C	0.034	-1.314969	0.01331	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.39406	1.08;1.08	4.96	1.88	0.25563	.	0.365474	0.23300	N	0.049700	T	0.30792	0.0776	L	0.54323	1.7	0.09310	N	1	B	0.33883	0.43	B	0.35240	0.198	T	0.13818	-1.0495	10	0.12430	T	0.62	-2.6342	5.2316	0.15424	0.1908:0.511:0.2211:0.077	.	295	Q6ZMV7	LEKR1_HUMAN	Q	295;599	ENSP00000418214:P295Q;ENSP00000348936:P599Q	ENSP00000348936:P599Q	P	+	2	0	LEKR1	158245950	0.000000	0.05858	0.015000	0.15790	0.418000	0.31294	-0.246000	0.08878	0.479000	0.27511	0.655000	0.94253	CCG			0.493	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding		OTTHUMT00000351625.3		NM_001004316		A	156763256	C	A	156763256	3	1	12	1	0	0	0	0	1	0	0	0	8732	652	23	1	1842	1	LEKR1	3	156763256	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	102853241	156763256	41259174	13	763											
LYAR	55646	mdanderson.org	37	chr4	4285380	4285380	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgcagtcaatgcaagaaagGcattcacagtttctgcaaac	14	8	8	11	1	3	1	2	0	1	1	3	1	3	1	1	1	3	5	1	1	4	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr4:4285380G>T	ENST00000343470.4	-	3	330	c.90C>A	c.(88-90)tgC>tgA	p.C30*	LYAR_ENST00000452476.1_Nonsense_Mutation_p.C30*	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	30						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)		TGCAAGAAAGGCATTCACAGT	0.383																																					p.C30X													.	.			0			c.C90A												104	93	97					4																	4285380		2203	4300	6503	SO:0001587	stop_gained	55646	exon3			AGAAAGGCATTCA	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.90C>A	4.37:g.4285380G>T	ENSP00000345917:p.Cys30*		42	0	0		29	0.1	3	NM_001145725	103	0	0	D3DVS4|Q6FI78|Q9NYS1	Nonsense_Mutation	SNP	ENST00000343470.4	37	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273871	0.80580	.	.	ENSG00000145220	ENST00000343470;ENST00000452476;ENST00000513174	.	.	.	5.29	1.41	0.22369	.	0.141504	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.574	8.7146	0.34403	0.5312:0.0:0.4688:0.0	.	.	.	.	X	30	.	ENSP00000345917:C30X	C	-	3	2	LYAR	4336281	1.000000	0.71417	0.339000	0.25562	0.622000	0.37654	0.724000	0.25954	0.192000	0.20272	0.591000	0.81541	TGC			0.383	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246800.2		NM_017816		T	4285380	G	T	4285380	4	4	12	1	0	0	0	0	0	1	0	0	9119	1195	42	2	1081	2	LYAR	4	4285380	Nonsense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		4285380	186868896	14	764											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	12	4	9	16	1	2	0	2	0	0	0	4	0	3	0	2	0	8	8	2	0	0	0	rs376418550	byFrequency	TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																					p.Q460H													BMP2K_ENST00000502871,NS,carcinoma,0,7	BMP2K	169	7	3	Substitution - Missense(3)	endometrium(2)|prostate(1)	c.G1380C												40	45	44					4																	79792085		2203	4300	6503	SO:0001583	missense	55589	exon11			TCACCAGCAGCAG	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His		57	0	0		47	0.09	4	NM_017593	3	0	0	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG			0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_017593		C	79792085	G	C	79792085	3	2	12	1	0	0	0	0	1	0	0	0	1460	962	34	5	1422	5	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	75506705	79792085	111362191	15	765											
TRIM23	373	broad.mit.edu	37	chr5	64905170	64905170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccaaatcaatttttcaCgaacatgagcatcaacaaca	17	9	5	10	1	3	2	3	2	0	0	3	3	3	2	1	0	5	1	1	0	5	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr5:64905170C>T	ENST00000231524.9	-	6	1315	c.944G>A	c.(943-945)cGt>cAt	p.R315H	TRIM23_ENST00000274327.7_Missense_Mutation_p.R315H|TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000381018.3_Missense_Mutation_p.R315H	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	315					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CAATTTTTCACGAACATGAGC	0.418																																					p.R315H													.	TRIM23	73		0			c.G944A												121	111	114					5																	64905170		2203	4300	6503	SO:0001583	missense	373	exon6			TTTTCACGAACAT	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.944G>A	5.37:g.64905170C>T	ENSP00000231524:p.Arg315His		265	0	0		227	0.03	6	NM_033228	0		0	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101218	0.94245	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.75367	-0.84;-0.84;-0.93	5.39	5.39	0.77823	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	M	0.61703	1.905	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	0.85178	0.1002	10	0.54805	T	0.06	.	19.5154	0.95162	0.0:1.0:0.0:0.0	.	315;315;315	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	H	315	ENSP00000231524:R315H;ENSP00000370406:R315H;ENSP00000274327:R315H	ENSP00000231524:R315H	R	-	2	0	TRIM23	64940926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.685000	0.91497	0.655000	0.94253	CGT			0.418	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215058.2		NM_001656		T	64905170	C	T	64905170	3	4	12	1	0	0	0	0	1	0	0	0	16521	536	19	1	871	1	TRIM23	5	64905170	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10		64905170	116010090	16	766											
PCDHB4	56131	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140501959	140501959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgatccaggacataaatGatcactctccaatattccct	13	13	4	11	0	2	2	1	2	1	0	5	3	4	3	3	1	0	0	3	1	5	5			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr5:140501959G>T	ENST00000194152.1	+	1	379	c.379G>T	c.(379-381)Gat>Tat	p.D127Y	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	127	Cadherin 1. {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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACATAAATGATCACTCTCC	0.423																																					p.D127Y													.	PCDHB4	177		0			c.G379T												51	58	56					5																	140501959		2203	4299	6502	SO:0001583	missense	0	exon1			ATAAATGATCACT	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.379G>T	5.37:g.140501959G>T	ENSP00000194152:p.Asp127Tyr		127	0.0078740157	1		126	0.21	27	NM_018938	0		0	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927216	0.73327	.	.	ENSG00000081818	ENST00000194152	T	0.54866	0.55	4.56	4.56	0.56223	Cadherin (1);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.84902	0.5575	H	0.99415	4.555	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.91889	0.5522	9	0.87932	D	0	.	17.486	0.87688	0.0:0.0:1.0:0.0	.	127	Q9Y5E5	PCDB4_HUMAN	Y	127	ENSP00000194152:D127Y	ENSP00000194152:D127Y	D	+	1	0	PCDHB4	140482143	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.535000	0.98064	2.513000	0.84729	0.655000	0.94253	GAT			0.423	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251812.2		NM_018938		T	140501959	G	T	140501959	3	4	12	1	0	0	0	0	1	0	0	0	11561	1290	45	3	381	3	PCDHB4	5	140501959	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	75596789	140501959	40413301	17	767											
FAM114A2	10827	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	153381928	153381928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagttcagccaggctcCggattgcaaacgcatggata	11	8	11	11	2	2	0	2	0	0	0	3	2	3	2	2	3	3	4	2	3	2	3			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr5:153381928C>T	ENST00000351797.4	-	11	1215	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q	FAM114A2_ENST00000520313.1_Missense_Mutation_p.R310Q|FAM114A2_ENST00000520667.1_Missense_Mutation_p.R380Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.R380Q	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	380							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AGCCAGGCTCCGGATTGCAAA	0.443																																					p.R380Q													.	.			0			c.G1139A												103	98	99					5																	153381928		2203	4300	6503	SO:0001583	missense	10827	exon11			AGGCTCCGGATTG	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1139G>A	5.37:g.153381928C>T	ENSP00000341597:p.Arg380Gln		163	0	0		174	0.05	9	NM_018691	14	0.07	1	B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605910	0.46527	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.17054	2.55;2.55;2.55;2.3	5.98	3.89	0.44902	.	0.183717	0.45867	D	0.000337	T	0.12178	0.0296	L	0.38838	1.175	0.29831	N	0.830052	B;B	0.31435	0.323;0.187	B;B	0.19946	0.027;0.023	T	0.08597	-1.0714	10	0.23302	T	0.38	-1.0568	12.7212	0.57144	0.0:0.8393:0.0:0.1607	.	310;380	E7ESJ7;Q9NRY5	.;F1142_HUMAN	Q	380;380;380;310	ENSP00000341597:R380Q;ENSP00000430489:R380Q;ENSP00000430384:R380Q;ENSP00000429088:R310Q	ENSP00000341597:R380Q	R	-	2	0	FAM114A2	153362121	0.997000	0.39634	0.965000	0.40720	0.940000	0.58332	1.836000	0.39191	1.526000	0.49068	0.655000	0.94253	CGG			0.443	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252455.1		NM_018691		T	153381928	C	T	153381928	3	4	12	1	0	0	0	0	1	0	0	0	5414	652	23	1	394	1	FAM114A2	5	153381928	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	12879969	153381928	27533332	18	768											
PRKAR1B	5575	mdanderson.org	37	chr7	624155	624155	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactgacctaggatggaGaccttgctgaggaactcctc	10	8	11	12	0	0	3	0	2	0	1	2	6	1	5	4	3	3	1	4	3	2	2	rs567546251		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr7:624155G>T	ENST00000406797.1	-	8	933	c.759C>A	c.(757-759)gtC>gtA	p.V253V	PRKAR1B_ENST00000544935.1_Silent_p.V253V|PRKAR1B_ENST00000537384.1_Silent_p.V253V|PRKAR1B_ENST00000360274.4_Silent_p.V253V|PRKAR1B_ENST00000403562.1_Silent_p.V253V	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	253					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)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|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)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTAGGATGGAGACCTTGCTGA	0.587																																					p.V253V													.	.			0			c.C759A												146	104	118					7																	624155		2202	4295	6497	SO:0001819	synonymous_variant	5575	exon8			GATGGAGACCTTG	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.759C>A	7.37:g.624155G>T			54	0	0		43	0.07	3	NM_002735	208	0	0	Q8N422	Silent	SNP	ENST00000406797.1	37	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	G	9.989	1.230184	0.22542	.	.	ENSG00000188191	ENST00000400758	.	.	.	4.96	3.07	0.35406	.	.	.	.	.	T	0.68650	0.3024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65809	-0.6078	4	.	.	.	-0.2254	14.0029	0.64444	0.0:0.2898:0.7102:0.0	.	.	.	.	Y	114	.	.	S	-	2	0	PRKAR1B	590681	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.030000	0.41108	0.453000	0.26858	-0.196000	0.12772	TCT			0.587	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322525.1				T	624155	G	T	624155	2	4	12	1	0	0	0	0	0	0	0	1	12524	929	33	3		3	PRKAR1B	7	624155	Silent	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		624155	158514508	19	769											
CARD11	84433	mdanderson.org	37	chr7	2962882	2962882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgagctgggaggtgaGgctgtcgccattcagcgtcg	6	8	18	9	3	1	2	1	2	0	0	3	3	1	3	1	4	2	2	1	4	0	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr7:2962882G>T	ENST00000396946.4	-	16	2429	c.2026C>A	c.(2026-2028)Ctc>Atc	p.L676I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	676	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|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 interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGGGAGGTGAGGCTGTCGCCA	0.687			Mis		DLBCL																																p.L676I				Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	.	.			0			c.C2026A												43	45	45					7																	2962882		2203	4298	6501	SO:0001583	missense	84433	exon16			AGGTGAGGCTGTC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2026C>A	7.37:g.2962882G>T	ENSP00000380150:p.Leu676Ile		31	0	0		31	0.1	3	NM_032415	18	0	0	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799637	0.70567	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.51817	0.69;0.69	4.89	4.01	0.46588	PDZ/DHR/GLGF (1);	0.072889	0.56097	D	0.000027	T	0.56877	0.2015	L	0.39898	1.24	0.54753	D	0.999988	D	0.89917	1.0	D	0.74348	0.983	T	0.57010	-0.7884	10	0.54805	T	0.06	-24.7458	11.3124	0.49372	0.0851:0.0:0.9149:0.0	.	676	Q9BXL7	CAR11_HUMAN	I	676;147	ENSP00000380150:L676I;ENSP00000347695:L147I	ENSP00000347695:L147I	L	-	1	0	CARD11	2929408	1.000000	0.71417	0.040000	0.18447	0.443000	0.32047	7.407000	0.80029	1.068000	0.40764	0.555000	0.69702	CTC			0.687	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059344.4		NM_032415		T	2962882	G	T	2962882	3	4	12	1	0	0	0	0	1	0	0	0	2647	1000	35	3	1478	3	CARD11	7	2962882	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	2338727	2962882	156175781	20	770											
MPP6	51678	mdanderson.org	37	chr7	24705705	24705705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctcacaaccagaaatGcaggtaggttttaaatactt	14	13	7	7	0	1	1	1	0	1	1	2	1	1	1	1	2	3	4	1	2	7	6			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr7:24705705G>T	ENST00000222644.5	+	8	1199	c.949G>T	c.(949-951)Gca>Tca	p.A317S	MPP6_ENST00000409761.1_Missense_Mutation_p.A205S|MPP6_ENST00000396475.2_Missense_Mutation_p.A317S			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AACCAGAAATGCAGGTAGGTT	0.318																																					p.A317S													.	.			0			c.G949T												86	100	96					7																	24705705		2189	4294	6483	SO:0001583	missense	51678	exon9			AGAAATGCAGGTA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.949G>T	7.37:g.24705705G>T	ENSP00000222644:p.Ala317Ser		45	0	0		36	0.08	3	NM_016447	1	0	0	B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298052	0.81025	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	D;D;D	0.81739	-1.53;-1.53;-1.53	5.32	4.43	0.53597	Src homology-3 domain (1);	0.000000	0.53938	D	0.000051	T	0.73606	0.3608	L	0.53617	1.68	0.80722	D	1	P	0.37824	0.609	B	0.33690	0.168	T	0.70483	-0.4859	10	0.10636	T	0.68	.	15.9924	0.80217	0.0:0.135:0.865:0.0	.	317	Q9NZW5	MPP6_HUMAN	S	317;205;317	ENSP00000222644:A317S;ENSP00000386262:A205S;ENSP00000379737:A317S	ENSP00000222644:A317S	A	+	1	0	MPP6	24672230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	1.216000	0.43427	0.591000	0.81541	GCA			0.318	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250272.4				T	24705705	G	T	24705705	3	4	12	1	0	0	0	0	1	0	0	0	9754	1319	46	2	975	2	MPP6	7	24705705	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	21742823	24705705	134432958	21	771											
TRRAP	8295	broad.mit.edu	37	chr7	98601961	98601961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggttcttgagcaatttctcGgcacagacagctgaagtgga	10	10	12	9	2	2	3	0	2	2	1	3	4	2	4	0	3	2	4	0	3	2	3	rs377353131		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr7:98601961G>A	ENST00000359863.4	+	67	10625	c.10416G>A	c.(10414-10416)tcG>tcA	p.S3472S	TRRAP_ENST00000355540.3_Silent_p.S3443S|TRRAP_ENST00000446306.3_Silent_p.S3461S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3472					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)			GCAATTTCTCGGCACAGACAG	0.478																																					p.S3472S													TRRAP_ENST00000359863,NS,carcinoma,+1,2	TRRAP	863	2	0			c.G10416A							G		1,4405	2.1+/-5.4	0,1,2202	90	98	95		10329	-10.9	0	7		95	0,8600		0,0,4300	no	coding-synonymous	TRRAP	NM_003496.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3443/3831	98601961	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8295	exon67			TTTCTCGGCACAG	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.10416G>A	7.37:g.98601961G>A			145	0	0		196	0.03	5	NM_001244580	21	0.05	1	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	4.110	0.018566	0.07959	2.27E-4	0.0	ENSG00000196367	ENST00000456197	.	.	.	5.46	-10.9	0.00192	.	.	.	.	.	T	0.32041	0.0816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45131	-0.9282	4	.	.	.	.	1.7594	0.02989	0.4213:0.1249:0.2562:0.1976	.	.	.	.	Q	3201	.	.	R	+	2	0	TRRAP	98439897	0.000000	0.05858	0.044000	0.18714	0.719000	0.41307	-2.136000	0.01305	-3.430000	0.00165	-1.774000	0.00658	CGG			0.478	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317978.1	rescued with RNA-seq	NM_003496		A	98601961	G	A	98601961	2	1	12	1	0	0	0	0	0	0	0	1	16625	1103	39	1		1	TRRAP	7	98601961	Silent	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	73896256	98601961	60536702	22	772											
TMEM55A	55529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	92033608	92033608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcgtctggactggcaatgGctgtatatggaggtgggagc	7	10	18	6	1	1	0	0	0	1	0	1	3	1	3	0	7	1	3	0	7	3	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr8:92033608G>T	ENST00000285419.3	-	2	445	c.131C>A	c.(130-132)gCc>gAc	p.A44D	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	44						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTGGCAATGGCTGTATATGG	0.443																																					p.A44D													.	.			0			c.C131A												109	104	106					8																	92033608		2203	4300	6503	SO:0001583	missense	55529	exon2			GCAATGGCTGTAT	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.131C>A	8.37:g.92033608G>T	ENSP00000285419:p.Ala44Asp		49	0	0		56	0.16	9	NM_018710	5	0	0	B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027229	0.93518	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.66610	-0.5880	9	0.48119	T	0.1	-7.1517	19.3137	0.94202	0.0:0.0:1.0:0.0	.	44	Q8N4L2	TM55A_HUMAN	D	44;50	.	ENSP00000285419:A44D	A	-	2	0	TMEM55A	92102784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.788000	0.95919	0.650000	0.86243	GCC			0.443	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376778.1		NM_018710		T	92033608	G	T	92033608	3	4	12	1	0	0	0	0	1	0	0	0	16204	1203	42	2	666	2	TMEM55A	8	92033608	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		92033608	54330414	23	773											
PLEC	5339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	144991455	144991455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggagatggtgatctcctcCcactcgcactcctgctcgga	7	9	11	14	2	1	2	0	1	1	1	6	5	3	3	3	3	1	2	3	3	0	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr8:144991455C>A	ENST00000322810.4	-	32	13114	c.12945G>T	c.(12943-12945)tgG>tgT	p.W4315C	PLEC_ENST00000354958.2_Missense_Mutation_p.W4156C|PLEC_ENST00000527096.1_Missense_Mutation_p.W4201C|PLEC_ENST00000357649.2_Missense_Mutation_p.W4182C|PLEC_ENST00000356346.3_Missense_Mutation_p.W4164C|PLEC_ENST00000436759.2_Missense_Mutation_p.W4205C|PLEC_ENST00000354589.3_Missense_Mutation_p.W4178C|PLEC_ENST00000398774.2_Missense_Mutation_p.W4146C|PLEC_ENST00000345136.3_Missense_Mutation_p.W4178C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4315	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						TGATCTCCTCCCACTCGCACT	0.617																																					p.W4315C													.	.			0			c.G12945T												62	71	68					8																	144991455		2136	4231	6367	SO:0001583	missense	5339	exon32			CTCCTCCCACTCG	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.12945G>T	8.37:g.144991455C>A	ENSP00000323856:p.Trp4315Cys		43	0	0		33	0.12	4	NM_201380	147	0.24	36	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783997	0.31593	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.24	5.24	0.73138	.	0.000000	0.64402	U	0.000007	D	0.83732	0.5318	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.999	D	0.85784	0.1363	10	0.87932	D	0	.	18.6231	0.91328	0.0:1.0:0.0:0.0	.	4205;4164;4156;4315;4146;4178;4182;4178	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	4178;4182;4178;4146;4315;4156;4164;4205;4201	ENSP00000344848:W4178C;ENSP00000350277:W4182C;ENSP00000346602:W4178C;ENSP00000381756:W4146C;ENSP00000323856:W4315C;ENSP00000347044:W4156C;ENSP00000348702:W4164C;ENSP00000388180:W4205C;ENSP00000434583:W4201C	ENSP00000323856:W4315C	W	-	3	0	PLEC	145063443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.582000	0.82546	2.726000	0.93360	0.549000	0.68633	TGG			0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		A	144991455	C	A	144991455	3	1	12	1	0	0	0	0	1	0	0	0	12069	624	22	3	1113	3	PLEC	8	144991455	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	52957847	144991455	1372567	24	774											
GDF10	2662	mdanderson.org	37	chr10	48429183	48429183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcataggggctgggccgggGcacccccgggtccctctcct	3	6	15	17	3	1	0	0	0	1	0	3	0	2	0	5	6	0	3	5	6	1	1	rs375293779		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr10:48429183G>A	ENST00000224605.2	-	2	968	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	235					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTGGGCCGGGGCACCCCCGGG	0.667																																					p.P235S													.	.			0			c.C703T												10	14	13					10																	48429183		2179	4288	6467	SO:0001583	missense	2662	exon2			GCCGGGGCACCCC	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.703C>T	10.37:g.48429183G>A	ENSP00000224605:p.Pro235Ser		44	0	0		46	0.07	3	NM_004962	0		0	Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.549996	0.00926	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.73897	-0.79	5.45	2.58	0.30949	.	0.823836	0.11694	N	0.538558	T	0.60366	0.2263	L	0.44542	1.39	0.09310	N	1	B;B	0.18310	0.002;0.027	B;B	0.18561	0.001;0.022	T	0.43294	-0.9400	10	0.09338	T	0.73	.	5.67	0.17717	0.227:0.1421:0.6309:0.0	.	45;235	Q8N6T2;P55107	.;BMP3B_HUMAN	S	45;235	ENSP00000224605:P235S	ENSP00000224605:P235S	P	-	1	0	GDF10	48049189	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.025000	0.12413	0.278000	0.22164	0.561000	0.74099	CCC			0.667	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047884.1		NM_004962		A	48429183	G	A	48429183	3	1	12	1	0	0	0	0	1	0	0	0	6325	1203	42	2	741	2	GDF10	10	48429183	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		48429183	87105564	25	775											
MUC6	4588	bcgsc.ca	37	chr11	1017556	1017556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagtgtgtgaatgtaGggatgtagaggttttggccg	9	11	19	2	1	0	2	0	1	0	1	0	5	0	5	1	5	0	3	1	5	4	4	rs77815355		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr11:1017556G>A	ENST00000421673.2	-	31	5295	c.5245C>T	c.(5245-5247)Cta>Tta	p.L1749L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1749	Approximate repeats.|Thr-rich.				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)		TGTGAATGTAGGGATGTAGAG	0.552																																					p.L1749L													.	MUC6	408		0			c.C5245T												824	781	795					11																	1017556		2199	4289	6488	SO:0001819	synonymous_variant	4588	exon31			AATGTAGGGATGT	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.5245C>T	11.37:g.1017556G>A			128	0.015625	2		131	0.08	11	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																					0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		A	1017556	G	A	1017556	2	1	12	1	0	0	0	0	0	0	0	1	9996	991	35	3		3	MUC6	11	1017556	Silent	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		1017556	133988960	26	776											
UNC93B1	81622	mdanderson.org	37	chr11	67770593	67770593	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccatgttgccatacttCacctcgcggtaggtctcgtc	6	11	9	15	3	2	0	1	0	1	0	5	0	2	0	4	2	3	2	4	2	2	4			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr11:67770593C>A	ENST00000227471.2	-	3	370	c.291G>T	c.(289-291)gtG>gtT	p.V97V	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	97					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TGCCATACTTCACCTCGCGGT	0.602																																					.													.	.			0			.												111	116	115					11																	67770593		2175	4274	6449	SO:0001819	synonymous_variant	81622	.			ATACTTCACCTCG	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.291G>T	11.37:g.67770593C>A			51	0	0		51	0.06	3	.	21	0	0	O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37																																																																																						0.602	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_030930		A	67770593	C	A	67770593	2	1	12	1	0	0	0	0	0	0	0	1	17021	813	29	3		3	UNC93B1	11	67770593	Silent	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	66753037	67770593	67235923	27	777											
PPME1	51400	mdanderson.org	37	chr11	73936285	73936285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatcctgaagatctgtctGcagaaacaatggcaaagtaa	17	8	9	7	0	2	4	0	1	2	3	3	4	3	4	1	1	2	3	1	1	6	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr11:73936285G>T	ENST00000328257.8	+	5	705	c.382G>T	c.(382-384)Gca>Tca	p.A128S	PPME1_ENST00000398427.4_Missense_Mutation_p.A128S			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	128					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					AGATCTGTCTGCAGAAACAAT	0.303																																					p.A128S													.	.			0			c.G382T												74	68	70					11																	73936285		1795	4055	5850	SO:0001583	missense	51400	exon5			CTGTCTGCAGAAA		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.382G>T	11.37:g.73936285G>T	ENSP00000329867:p.Ala128Ser		64	0	0		51	0.06	3	NM_016147	7	0	0	B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	ENST00000328257.8	37	CCDS44678.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351882	0.82132	.	.	ENSG00000214517	ENST00000328257;ENST00000398427	T;T	0.67698	-0.28;-0.28	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	L	0.48362	1.52	0.80722	D	1	P	0.37548	0.599	B	0.44224	0.444	T	0.63444	-0.6636	10	0.31617	T	0.26	.	18.8972	0.92429	0.0:0.0:1.0:0.0	.	128	Q9Y570	PPME1_HUMAN	S	128	ENSP00000329867:A128S;ENSP00000381461:A128S	ENSP00000329867:A128S	A	+	1	0	PPME1	73613933	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.441000	0.97557	2.818000	0.97014	0.591000	0.81541	GCA			0.303	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398254.1		NM_016147		T	73936285	G	T	73936285	3	4	12	1	0	0	0	0	1	0	0	0	12367	1319	46	2	400	2	PPME1	11	73936285	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	6165692	73936285	61070231	28	778											
NCAM1	4684	mdanderson.org	37	chr11	113105859	113105859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgggtgagatcagcgcgGcctccgagttcaagacgcag	8	6	16	11	4	2	2	2	1	0	2	3	4	3	2	2	3	1	3	2	3	1	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr11:113105859G>T	ENST00000533760.1	+	13	2013	c.1414G>T	c.(1414-1416)Gcc>Tcc	p.A472S	NCAM1_ENST00000316851.7_Missense_Mutation_p.A590S|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A599S	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	600	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GATCAGCGCGGCCTCCGAGTT	0.627																																					p.A626S													.	.			0			c.G1876T												29	33	32					11																	113105859		2024	4151	6175	SO:0001583	missense	4684	exon16			AGCGCGGCCTCCG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1414G>T	11.37:g.113105859G>T	ENSP00000473281:p.Ala472Ser		74	0	0		45	0.07	3	NM_001242607	1	0	0	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.	.	.	.	.	.	.	.	.	.	G	14.69	2.612073	0.46631	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.53206	1.07;0.63	5.84	4.92	0.64577	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.324116	0.28821	U	0.014029	T	0.35480	0.0933	.	.	.	0.38487	D	0.947875	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.002;0.001;0.006	T	0.20538	-1.0272	9	0.27785	T	0.31	-35.0045	10.4992	0.44796	0.0:0.2631:0.6181:0.1188	.	600;590;600;590	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	S	472;599;590;34	ENSP00000384055:A599S;ENSP00000318472:A590S	ENSP00000318472:A590S	A	+	1	0	NCAM1	112611069	0.567000	0.26626	0.880000	0.34516	0.892000	0.51952	1.078000	0.30754	1.453000	0.47775	0.591000	0.81541	GCC			0.627	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000394068.2		NM_000615		T	113105859	G	T	113105859	3	4	12	1	0	0	0	0	1	0	0	0	10219	1203	42	2	1853	2	NCAM1	11	113105859	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	39169574	113105859	21900657	29	779			1	4		2	2	28	N	G_C	5.756254e-05
NCAM1	4684	mdanderson.org	37	chr11	113105886	113105886	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaagacgcagccagtcCgtaagtaaagccagctgccc	12	6	10	13	2	1	1	1	0	0	1	2	1	2	1	4	0	4	5	4	0	4	3			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr11:113105886C>T	ENST00000533760.1	+	13	2040	c.1441C>T	c.(1441-1443)Caa>Taa	p.Q481*	NCAM1_ENST00000316851.7_Splice_Site_p.P599S|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Splice_Site_p.Q608*	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	609	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCAGCCAGTCCGTAAGTAAAG	0.617																																					p.P635S													.	.			0			c.C1903T												28	33	31					11																	113105886		1997	4143	6140	SO:0001630	splice_region_variant	4684	exon16			CCAGTCCGTAAGT		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1441+1C>T	11.37:g.113105886C>T			65	0	0		42	0.07	3	NM_001242607	1	0	0	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	39|39|39	7.572409|7.572409|7.572409	0.98365|0.98365|0.98365	.|.|.	.|.|.	ENSG00000149294|ENSG00000149294|ENSG00000149294	ENST00000433634|ENST00000316851|ENST00000531044;ENST00000401611	.|T|.	.|0.61742|.	.|0.08|.	5.84|5.84|5.84	5.84|5.84|5.84	0.93424|0.93424|0.93424	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.50939|0.50939|.	0.1645|0.1645|.	.|.|.	.|.|.	.|.|.	0.23708|0.23708|0.23708	N|N|N	0.997059|0.997059|0.997059	B|.|.	0.26744|.|.	0.158|.|.	B|.|.	0.33121|.|.	0.158|.|.	T|T|.	0.46205|0.46205|.	-0.9208|-0.9208|.	7|6|.	0.45353|0.24483|0.36615	T|T|T	0.12|0.36|0.2	-18.7841|-18.7841|-18.7841	14.9168|14.9168|14.9168	0.70805|0.70805|0.70805	0.1431:0.8568:0.0:0.0|0.1431:0.8568:0.0:0.0|0.1431:0.8568:0.0:0.0	.|.|.	599|.|.	P13591-3|.|.	.|.|.	Y|S|X	43|599|481;608	.|ENSP00000318472:P599S|.	ENSP00000390982:H43Y|ENSP00000318472:P599S|ENSP00000384055:Q608X	H|P|Q	+|+|+	1|1|1	0|0|0	NCAM1|NCAM1|NCAM1	112611096|112611096|112611096	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.970000|0.970000|0.970000	0.65996|0.65996|0.65996	4.597000|4.597000|4.597000	0.61062|0.61062|0.61062	2.767000|2.767000|2.767000	0.95098|0.95098|0.95098	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	CAT|CCA|CAA;CAG			0.617	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000394068.2		NM_000615	Nonsense_Mutation	T	113105886	C	T	113105886	5	4	12	1	0	0	0	0	0	0	1	0	10219	666	23	1	1880	1	NCAM1	11	113105886	Splice_Site	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	27	113105886	21900630	30	780			1	4		2	2	28	N	G_C	5.756254e-05
GRIK4	2900	broad.mit.edu	37	chr11	120856677	120856677	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcaggacagtatccAcccccgccggcggcgcgccg	5	5	13	18	6	1	0	1	0	0	0	2	1	2	1	6	3	0	1	6	3	1	1	rs372805470		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr11:120856677A>C	ENST00000527524.2	+	21	2866	c.2579A>C	c.(2578-2580)cAc>cCc	p.H860P	GRIK4_ENST00000438375.2_Missense_Mutation_p.H860P	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	860					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GACAGTATCCAcccccgccgg	0.716																																					p.H860P													.	GRIK4	149		0			c.A2579C												3	2	2					11																	120856677		1524	3047	4571	SO:0001583	missense	2900	exon19			GTATCCACCCCCG	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2579A>C	11.37:g.120856677A>C	ENSP00000435648:p.His860Pro		51	0.2156862745	11		61	0.25	15	NM_014619	2	0.5	1	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.486896	0.44249	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11712	2.75;2.75	4.46	4.46	0.54185	.	0.116516	0.64402	D	0.000011	T	0.07007	0.0178	N	0.22421	0.69	0.40744	D	0.982851	B	0.27068	0.167	B	0.19148	0.024	T	0.30937	-0.9961	10	0.36615	T	0.2	.	8.9352	0.35695	0.8339:0.0:0.0:0.1661	.	860	Q16099	GRIK4_HUMAN	P	860	ENSP00000435648:H860P;ENSP00000404063:H860P	ENSP00000404063:H860P	H	+	2	0	GRIK4	120361887	0.783000	0.28701	0.748000	0.31131	0.950000	0.60333	1.572000	0.36461	1.635000	0.50512	0.379000	0.24179	CAC			0.716	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109760.4		NM_014619		C	120856677	A	C	120856677	3	2	12	1	0	0	0	0	1	0	0	0	6791	159	6	4	2653	4	GRIK4	11	120856677	Missense_Mutation	SNP	A	TCGA-2G-AAFM-01A-11D-A42Y-10	7750791	120856677	14149839	31	781											
BAZ2A	11176	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	56995665	56995665	+	Frame_Shift_Del	DEL	G	G	-																															aggggagccttcttgctccaGgaaccccttatgggactgaa																										TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr12:56995665delG	ENST00000551812.1	-	20	3935	c.3742delC	c.(3742-3744)ctgfs	p.L1248fs	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Frame_Shift_Del_p.L1216fs|BAZ2A_ENST00000549884.1_Frame_Shift_Del_p.L1246fs|BAZ2A_ENST00000379441.3_Frame_Shift_Del_p.L1218fs	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1248	Glu-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTTGCTCCAGGAACCCCTTA	0.597																																					p.L1248fs													.	BAZ2A	263		0			c.3743delT												29	30	30					12																	56995665		1945	4149	6094	SO:0001589	frameshift_variant	11176	exon20			GCTCCAGGAACCC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3742delC	12.37:g.56995665delG	ENSP00000446880:p.Leu1248fs		81	0	0		71	0.18	13	NM_013449	6	0	0	B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Del	DEL	ENST00000551812.1	37	CCDS44924.1																																																																																					0.597	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408561.1		NM_013449		-	56995665	G	-	56995665	7	5	12	1	0	1	0	1	0	0	0	0	1331	991	35	0	2015	0	BAZ2A	12	56995665	Frame_Shift_Del	DEL	G	TCGA-2G-AAFM-01A-11D-A42Y-10		56995665	76856230	32	782											
CLIP1	6249	hgsc.bcm.edu	37	chr12	122862115	122862115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaaggggtggagggggAggaagacaccatgctggccg	9	6	20	6	1	0	2	0	1	0	1	0	5	0	5	2	7	1	2	2	7	2	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr12:122862115A>G	ENST00000540338.1	-	2	519	c.478T>C	c.(478-480)Tcc>Ccc	p.S160P	CLIP1_ENST00000358808.2_Missense_Mutation_p.S160P|CLIP1_ENST00000361654.4_Missense_Mutation_p.S160P|CLIP1_ENST00000302528.7_Missense_Mutation_p.S160P|CLIP1_ENST00000537178.1_Missense_Mutation_p.S160P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	160	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTGGAGGGGGAGGAAGACACC	0.557																																					p.S160P													.	.			0			c.T478C												174	155	161					12																	122862115		2203	4300	6503	SO:0001583	missense	6249	exon3			AGGGGGAGGAAGA		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.478T>C	12.37:g.122862115A>G	ENSP00000439093:p.Ser160Pro		125	0	0		115	0.04	5	NM_002956	4	0	0	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	A	3.099	-0.185224	0.06340	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.54	3.1	0.35709	Cytoskeleton-associated protein, Gly-rich domain (1);	0.551153	0.21194	N	0.078587	T	0.65144	0.2663	M	0.65975	2.015	0.09310	N	1	B;B;B;B	0.13594	0.008;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.001;0.0;0.0	T	0.53683	-0.8404	10	0.29301	T	0.29	-0.3032	2.3745	0.04338	0.5269:0.1379:0.0706:0.2646	.	160;160;160;160	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	P	160;160;5;160;160;160;160	ENSP00000303585:S160P;ENSP00000351665:S160P;ENSP00000445531:S160P;ENSP00000439093:S160P;ENSP00000437786:S160P;ENSP00000441409:S160P	ENSP00000303585:S160P	S	-	1	0	CLIP1	121428068	0.007000	0.16637	0.004000	0.12327	0.223000	0.24884	0.167000	0.16602	0.355000	0.24131	0.482000	0.46254	TCC			0.557	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000401625.1		NM_002956		G	122862115	A	G	122862115	3	3	12	1	0	0	0	0	1	0	0	0	3534	304	11	4	3897	4	CLIP1	12	122862115	Missense_Mutation	SNP	A	TCGA-2G-AAFM-01A-11D-A42Y-10	65866450	122862115	10989780	33	783											
DDX51	317781	broad.mit.edu	37	chr12	132625414	132625414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatacttccccgaatcccCgtccccatctgtatcttcca	7	11	5	18	2	2	0	0	0	2	0	6	1	6	0	7	1	1	2	7	1	3	4			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr12:132625414C>T	ENST00000397333.3	-	9	1440	c.1402G>A	c.(1402-1404)Ggg>Agg	p.G468R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	468					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)		CCCGAATCCCCGTCCCCATCT	0.617																																					p.G468R													.	DDX51	33		0			c.G1402A												105	113	110					12																	132625414		1936	4124	6060	SO:0001583	missense	317781	exon9			AATCCCCGTCCCC	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.1402G>A	12.37:g.132625414C>T	ENSP00000380495:p.Gly468Arg		115	0	0		113	0.04	4	NM_175066	73	0.08	6	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	4.681	0.126550	0.08931	.	.	ENSG00000185163	ENST00000397333	T	0.01902	4.57	4.72	-3.95	0.04118	.	1.714690	0.03274	N	0.185190	T	0.02047	0.0064	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47114	-0.9142	10	0.17369	T	0.5	-12.9339	1.3012	0.02079	0.3239:0.336:0.099:0.2411	.	468	Q8N8A6	DDX51_HUMAN	R	468	ENSP00000380495:G468R	ENSP00000380495:G468R	G	-	1	0	DDX51	131191367	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.187000	0.03067	-0.531000	0.06340	-1.402000	0.01139	GGG			0.617	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398978.1	rescued with RNA-seq	NM_175066		T	132625414	C	T	132625414	3	4	12	1	0	0	0	0	1	0	0	0	4371	652	23	1	626	1	DDX51	12	132625414	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	9763299	132625414	1226481	34	784											
GRK1	6011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	114321726	114321726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcgggtctttggagaccGtggtggccaactctgccttc	5	13	12	11	2	2	1	0	0	2	1	4	2	2	1	3	4	2	0	3	4	1	3	rs184639495		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr13:114321726G>A	ENST00000335678.6	+	1	257	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	9	N-terminal.				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)			TTTGGAGACCGTGGTGGCCAA	0.642																																					p.V9M													.	.			0			c.G25A							G	MET/VAL	0,4192		0,0,2096	42	50	47		25	5.2	0.9	13		47	1,8457		0,1,4228	no	missense	GRK1	NM_002929.2	21	0,1,6324	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	9/564	114321726	1,12649	2096	4229	6325	SO:0001583	missense	6011	exon1			GAGACCGTGGTGG			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.25G>A	13.37:g.114321726G>A	ENSP00000334876:p.Val9Met		78	0	0		38	0.24	9	NM_002929	0		0	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.07	3.542666	0.65198	0.0	1.18E-4	ENSG00000185974	ENST00000335678	T	0.69685	-0.42	5.21	5.21	0.72293	.	0.059335	0.64402	D	0.000003	T	0.77678	0.4166	.	.	.	0.47584	D	0.999463	D	0.69078	0.997	P	0.57846	0.828	T	0.79271	-0.1872	9	0.51188	T	0.08	-45.0509	16.2679	0.82600	0.0:0.0:1.0:0.0	.	9	Q15835	RK_HUMAN	M	9	ENSP00000334876:V9M	ENSP00000334876:V9M	V	+	1	0	GRK1	113369727	1.000000	0.71417	0.945000	0.38365	0.843000	0.47879	6.800000	0.75165	2.415000	0.81967	0.561000	0.74099	GTG	0		0.642	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470655.1		NM_002929		A	114321726	G	A	114321726	3	1	12	1	0	0	0	0	1	0	0	0	6805	1145	40	1	27	1	GRK1	13	114321726	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		114321726	848152	35	785											
ANG	283	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	21162164	21162164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcaattttccgtcgtccGtaaccagcgggcccctggtc	6	10	10	15	4	1	0	1	0	0	0	5	0	3	0	5	2	2	1	5	2	2	3			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr14:21162164G>A	ENST00000336811.6	+	2	1041	c.441G>A	c.(439-441)ccG>ccA	p.P147P	RNASE4_ENST00000555835.1_Intron|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000397990.4_Silent_p.P147P|ANG_ENST00000554073.1_Intron|AL163636.6_ENST00000553909.1_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	147					actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TCCGTCGTCCGTAACCAGCGG	0.552																																					p.P147P													.	.			0			c.G441A												84	81	82					14																	21162164		2203	4300	6503	SO:0001819	synonymous_variant	283	exon2			TCGTCCGTAACCA		CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"Ribonucleases, RNase A"	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.441G>A	14.37:g.21162164G>A			174	0	0		172	0.06	11	NM_001097577	24	0	0	Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Silent	SNP	ENST00000336811.6	37	CCDS9554.1																																																																																					0.552	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000073731.3		NM_001097577		A	21162164	G	A	21162164	2	1	12	1	0	0	0	0	0	0	0	1	607	1132	40	1		1	ANG	14	21162164	Silent	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		21162164	86187376	36	786											
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105412772	105412772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacttcggcctccaccttcgGcgcagacacatccaccgaga	9	6	8	18	4	0	2	0	0	0	2	4	3	2	2	5	2	0	1	5	2	0	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr14:105412772G>A	ENST00000333244.5	-	7	9135	c.9016C>T	c.(9016-9018)Ccg>Tcg	p.P3006S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3006						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)			TCCACCTTCGGCGCAGACACA	0.597																																					p.P3006S													AHNAK2_ENST00000333244,NS,carcinoma,+2,1	AHNAK2_ENST00000333244	2	1	0			c.C9016T												224	235	231					14																	105412772		2008	4153	6161	SO:0001583	missense	113146	exon7			CCTTCGGCGCAGA	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.9016C>T	14.37:g.105412772G>A	ENSP00000353114:p.Pro3006Ser		220	0	0		209	0.23	49	NM_138420	0		0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	17.71	3.457051	0.63401	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	4.06	1.97	0.26223	.	.	.	.	.	T	0.15046	0.0363	M	0.87180	2.865	0.25321	N	0.989116	D	0.67145	0.996	P	0.62491	0.903	T	0.07462	-1.0771	9	0.30854	T	0.27	.	8.4358	0.32786	0.0:0.3127:0.5268:0.1606	.	3006	Q8IVF2	AHNK2_HUMAN	S	3006	ENSP00000353114:P3006S	ENSP00000353114:P3006S	P	-	1	0	AHNAK2	104483817	.	.	0.001000	0.08648	0.001000	0.01503	.	.	0.653000	0.30826	0.485000	0.47835	CCG			0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420		A	105412772	G	A	105412772	3	1	12	1	0	0	0	0	1	0	0	0	415	1203	42	2	8375	2	AHNAK2	14	105412772	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	84250608	105412772	1936768	37	787											
GOLGA6B	55889	hgsc.bcm.edu	37	chr15	72954932	72954932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaacaggaggagaggctgcGaaaggaggaggagaggctgc	14	2	19	6	1	0	2	0	0	0	2	0	8	0	5	0	7	3	2	0	7	2	0	rs371637348		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr15:72954932G>A	ENST00000421285.3	+	11	1187	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	396						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGAGGCTGCGAAAGGAGGAG	0.582																																					p.R396Q													GOLGA6B,NS,carcinoma,+1,1	GOLGA6B	1	1	0			c.G1187A												1	1	1					15																	72954932		337	771	1108	SO:0001583	missense	55889	exon11			GGCTGCGAAAGGA		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1187G>A	15.37:g.72954932G>A	ENSP00000408132:p.Arg396Gln		277	0.0036101083	1		292	0.04	12	NM_018652	0		0	A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	6.034	0.374695	0.11409	.	.	ENSG00000215186	ENST00000421285	T	0.05925	3.37	0.459	0.459	0.16678	.	.	.	.	.	T	0.05731	0.0150	N	0.16602	0.42	0.20703	N	0.999869	D	0.61697	0.99	P	0.55455	0.776	T	0.33599	-0.9862	9	0.13108	T	0.6	.	2.9675	0.05912	0.3843:0.0:0.6157:0.0	.	396	A6NDN3	GOG6B_HUMAN	Q	396	ENSP00000408132:R396Q	ENSP00000408132:R396Q	R	+	2	0	GOLGA6B	70741986	0.102000	0.21896	0.004000	0.12327	0.296000	0.27459	-0.474000	0.06607	0.515000	0.28320	0.089000	0.15464	CGA			0.582	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257474.4		NM_018652		A	72954932	G	A	72954932	3	1	12	1	0	0	0	0	1	0	0	0	6572	1058	37	1	1229	1	GOLGA6B	15	72954932	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		72954932	29576460	38	788											
PCSK6	5046	mdanderson.org	37	chr15	101922323	101922323	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtccgaggcggccacAcacatgtgctgcgatggcac	7	8	12	14	3	1	0	0	0	1	0	2	2	2	0	2	3	2	2	2	3	0	1	rs1058260	byFrequency	TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr15:101922323A>T	ENST00000348070.1	-	12	1502	c.1503T>A	c.(1501-1503)tgT>tgA	p.C501*	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Nonsense_Mutation_p.C501*|PCSK6_ENST00000398181.2_Nonsense_Mutation_p.C501*|PCSK6_ENST00000331826.7_Nonsense_Mutation_p.C336*|PCSK6_ENST00000344273.2_Nonsense_Mutation_p.C501*	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	502					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)			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)			AGGCGGCCACACACATGTGCT	0.537																																					.													.	.			0			.												59	65	63					15																	101922323		2182	4274	6456	SO:0001587	stop_gained	5046	.			GGCCACACACATG		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.1503T>A	15.37:g.101922323A>T	ENSP00000305056:p.Cys501*		85	0	0		44	0.07	3	.	5	0	0	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Nonsense_Mutation	SNP	ENST00000348070.1	37		.	.	.	.	.	.	.	.	.	.	A	27.3	4.819990	0.90873	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000344273;ENST00000398181;ENST00000331826	.	.	.	5.73	-9.14	0.00701	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8927	21.4607	0.99954	0.2436:0.0:0.7564:0.0	.	.	.	.	X	501;501;501;501;336	.	ENSP00000332052:C336X	C	-	3	2	PCSK6	99739846	0.008000	0.16893	0.001000	0.08648	0.129000	0.20672	0.033000	0.13754	-1.621000	0.01562	-0.256000	0.11100	TGT			0.537	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_002570		T	101922323	A	T	101922323	4	4	12	1	0	0	0	0	0	1	0	0	11621	157	6	5	1880	5	PCSK6	15	101922323	Nonsense_Mutation	SNP	A	TCGA-2G-AAFM-01A-11D-A42Y-10	28967391	101922323	609069	39	789											
NTHL1	7249	mdanderson.org	37	chr16	2097800	2097800	+	5'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggctccggctccgggtcaGcatcctcgcgctcaaggcgg	5	6	14	16	5	2	0	2	0	0	0	6	0	5	0	3	5	1	4	3	5	1	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr16:2097800G>A	ENST00000219476.3	+	0	335				TSC2_ENST00000382538.6_5'Flank|NTHL1_ENST00000219066.1_Silent_p.L17L|TSC2_ENST00000401874.2_5'Flank|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000353929.4_5'Flank|TSC2_ENST00000350773.4_5'Flank|TSC2_ENST00000439673.2_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTCCGGGTCAGCATCCTCGCG	0.721			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.L17L			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	.	.			0			c.C49T												8	10	9					16																	2097800		2168	4257	6425	SO:0001623	5_prime_UTR_variant	4913	exon1	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	GGGTCAGCATCCT	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.-296G>A	16.37:g.2097800G>A			32	0	0		19	0.11	2	NM_002528	117	0	0	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	CCDS10458.1																																																																																					0.721	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250657.2		NM_000548		A	2097800	G	A	2097800	1	1	12	0	1	0	0	0	0	0	0	0	10715	962	34	2		2	NTHL1	16	2097800	5'UTR	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		2097800	88256953	40	790											
ZNF205	7755	mdanderson.org	37	chr16	3170289	3170289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgggggcggcggcggCgggggctctggccacacccc	3	4	20	14	4	1	0	0	0	1	0	1	1	1	0	3	8	1	2	3	8	0	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr16:3170289C>G	ENST00000382192.3	+	7	1833	c.1628C>G	c.(1627-1629)gCg>gGg	p.A543G	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.A543G|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	543					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						gcggcggcggcgggggcTCTG	0.721																																					p.A543G													.	.			0			c.C1628G												5	6	6					16																	3170289		1957	3877	5834	SO:0001583	missense	7755	exon7			CGGCGGCGGGGGC	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1628C>G	16.37:g.3170289C>G	ENSP00000371627:p.Ala543Gly		16	0	0		12	0.17	2	NM_003456	83	0.01	1	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199778	0.22121	.	.	ENSG00000122386	ENST00000382192;ENST00000219091	T;T	0.08807	3.05;3.05	5.54	4.58	0.56647	.	0.676039	0.12206	N	0.489785	T	0.11580	0.0282	N	0.08118	0	0.26180	N	0.979742	D	0.69078	0.997	P	0.62813	0.907	T	0.35724	-0.9777	10	0.44086	T	0.13	-5.873	12.653	0.56772	0.0:0.9174:0.0:0.0826	.	543	O95201	ZN205_HUMAN	G	543	ENSP00000371627:A543G;ENSP00000219091:A543G	ENSP00000219091:A543G	A	+	2	0	ZNF205	3110290	0.001000	0.12720	0.555000	0.28281	0.875000	0.50365	0.602000	0.24134	2.604000	0.88044	0.561000	0.74099	GCG			0.721	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000309057.1		NM_003456		G	3170289	C	G	3170289	3	3	12	1	0	0	0	0	1	0	0	0	17787	768	27	5	1650	5	ZNF205	16	3170289	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	1072489	3170289	87184464	41	791											
METTL9	51108	mdanderson.org	37	chr16	21611168	21611168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacgtgaacatgactagCggcccgggtgggccggcggc	6	6	17	12	5	0	2	0	2	0	0	0	2	0	2	2	5	3	1	2	5	3	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr16:21611168C>T	ENST00000358154.3	+	1	372	c.114C>T	c.(112-114)agC>agT	p.S38S	METTL9_ENST00000396014.4_Silent_p.S38S	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	38										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		ACATGACTAgcggcccgggtg	0.771																																					p.S38S													.	.			0			c.C114T												4	6	5					16																	21611168		1799	3735	5534	SO:0001819	synonymous_variant	51108	exon1			GACTAGCGGCCCG	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.114C>T	16.37:g.21611168C>T			14	0	0		18	0.11	2	NM_016025	9	0	0	Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Silent	SNP	ENST00000358154.3	37	CCDS10598.2																																																																																					0.771	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254465.1		NM_016025		T	21611168	C	T	21611168	2	4	12	1	0	0	0	0	0	0	0	1	9524	767	27	1		1	METTL9	16	21611168	Silent	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	18440879	21611168	68743585	42	792											
EEF2K	29904	mdanderson.org	37	chr16	22269002	22269002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttctactctcatgccTgcaaccggatttgcgagagc	7	13	8	13	2	4	1	1	0	4	1	5	3	4	2	2	1	6	1	2	1	2	4			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr16:22269002T>C	ENST00000263026.5	+	9	1414	c.940T>C	c.(940-942)Tgc>Cgc	p.C314R		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	314	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)		CTCTCATGCCTGCAACCGGAT	0.612																																					p.C314R	NSCLC(195;1411 2157 20319 27471 51856)												.	.			0			c.T940C												130	113	119					16																	22269002		2197	4300	6497	SO:0001583	missense	29904	exon9			CATGCCTGCAACC	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.940T>C	16.37:g.22269002T>C	ENSP00000263026:p.Cys314Arg		46	0	0		52	0.06	3	NM_013302	2	0	0	Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.787454	0.90367	.	.	ENSG00000103319	ENST00000263026	T	0.23147	1.92	5.52	5.52	0.82312	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75181	-0.3408	10	0.87932	D	0	-8.8801	15.643	0.77020	0.0:0.0:0.0:1.0	.	314	O00418	EF2K_HUMAN	R	314	ENSP00000263026:C314R	ENSP00000263026:C314R	C	+	1	0	EEF2K	22176503	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.603000	0.67619	2.094000	0.63399	0.533000	0.62120	TGC			0.612	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211580.2		NM_013302		C	22269002	T	C	22269002	3	2	12	1	0	0	0	0	1	0	0	0	4935	1580	55	4	970	4	EEF2K	16	22269002	Missense_Mutation	SNP	T	TCGA-2G-AAFM-01A-11D-A42Y-10	657834	22269002	68085751	43	793											
HSF4	3299	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	67200242	67200242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaacgagatcttgtggCgggaggtggtgacacttcgg	8	8	18	7	3	1	3	0	1	1	2	2	5	1	4	0	6	1	1	0	6	1	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr16:67200242C>T	ENST00000521374.1	+	5	505	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	HSF4_ENST00000264009.8_Missense_Mutation_p.R169W|HSF4_ENST00000421453.1_Missense_Mutation_p.R169W|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Missense_Mutation_p.R169W			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	169	Hydrophobic repeat HR-A/B.				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)		GATCTTGTGGCGGGAGGTGGT	0.637																																					p.R169W													.	HSF4	33		0			c.C505T												27	36	33					16																	67200242		2104	4208	6312	SO:0001583	missense	3299	exon7			TTGTGGCGGGAGG	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.505C>T	16.37:g.67200242C>T	ENSP00000430947:p.Arg169Trp		125	0	0		99	0.06	6	NM_001538	7	0	0	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.02|13.02	2.110982|2.110982	0.37242|0.37242	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000517750|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729	.|.	.|.	.|.	4.75|4.75	2.73|2.73	0.32206|0.32206	.|.	.|0.056567	.|0.64402	.|D	.|0.000002	T|T	0.77837|0.77837	0.4190|0.4190	M|M	0.78285|0.78285	2.405|2.405	0.48236|0.48236	D|D	0.999618|0.999618	.|D;D	.|0.89917	.|1.0;0.998	.|D;P	.|0.77004	.|0.989;0.609	T|T	0.78843|0.78843	-0.2044|-0.2044	5|9	.|0.87932	.|D	.|0	-19.0782|-19.0782	13.713|13.713	0.62680|0.62680	0.4497:0.5503:0.0:0.0|0.4497:0.5503:0.0:0.0	.|.	.|169;169	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	V|W	15|169;169;169;169;106	.|.	.|ENSP00000264009:R169W	A|R	+|+	2|1	0|2	HSF4|HSF4	65757743|65757743	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.739000|0.739000	0.42172|0.42172	0.454000|0.454000	0.21827|0.21827	0.158000|0.158000	0.19367|0.19367	-1.367000|-1.367000	0.01198|0.01198	GCG|CGG			0.637	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375080.1		NM_001538		T	67200242	C	T	67200242	3	4	12	1	0	0	0	0	1	0	0	0	7413	759	27	1	523	1	HSF4	16	67200242	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	44931240	67200242	23154511	44	794											
DHODH	1723	mdanderson.org	37	chr16	72056285	72056285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagagggatggcttgCggagagtgcacaggccggca	9	5	19	8	2	0	2	0	0	0	2	0	5	0	3	1	6	3	4	1	6	0	1	rs267606768		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr16:72056285C>T	ENST00000219240.4	+	6	751	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	DHODH_ENST00000573922.1_Intron|DHODH_ENST00000572887.1_Missense_Mutation_p.R244W	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	244			R -> W (in POADS). {ECO:0000269|PubMed:19915526}.		'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GGATGGCTTGCGGAGAGTGCA	0.627																																					p.R244W													DHODH,colon,carcinoma,0,1	DHODH	0	1	0			c.C730T												27	36	33					16																	72056285		2103	4182	6285	SO:0001583	missense	1723	exon6			GGCTTGCGGAGAG		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.730C>T	16.37:g.72056285C>T	ENSP00000219240:p.Arg244Trp		45	0	0		38	0.08	3	NM_001361	40	0	0	A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741097	0.49151	.	.	ENSG00000102967	ENST00000219240	D	0.94862	-3.54	5.82	-1.37	0.09056	Aldolase-type TIM barrel (1);	0.493289	0.25467	N	0.030471	D	0.94712	0.8294	L	0.52905	1.665	0.19300	N	0.999971	D	0.56746	0.977	P	0.53518	0.728	D	0.91066	0.4889	10	0.72032	D	0.01	-7.3583	20.0504	0.97625	0.2809:0.7191:0.0:0.0	.	244	Q02127	PYRD_HUMAN	W	244	ENSP00000219240:R244W	ENSP00000219240:R244W	R	+	1	2	DHODH	70613786	0.865000	0.29922	0.005000	0.12908	0.001000	0.01503	0.692000	0.25482	-0.102000	0.12197	0.561000	0.74099	CGG			0.627	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_001361		T	72056285	C	T	72056285	3	4	12	1	0	0	0	0	1	0	0	0	4489	759	27	1	752	1	DHODH	16	72056285	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	4856043	72056285	18298468	45	795											
GAS2L2	246176	broad.mit.edu	37	chr17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgctggcggcgaggggTcgggcgggggcagggccagc	3	2	26	10	5	0	0	0	0	0	0	1	1	0	0	1	10	1	2	1	10	0	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					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)		CGGCGAGGGGTCGGGCGGGGG	0.741																																					p.D189A													GAS2L2,right_upper_lobe,carcinoma,0,2	GAS2L2	94	2	0			c.A566C												20	26	24					17																	34077157		2188	4280	6468	SO:0001583	missense	246176	exon2			GAGGGGTCGGGCG	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.566A>C	17.37:g.34077157T>G	ENSP00000254466:p.Asp189Ala		92	0.1847826087	17		93	0.35	33	NM_139285	0		0	Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	7.826	0.718860	0.15372	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.98	2.77	0.32553	.	1.437920	0.04140	N	0.319452	T	0.17152	0.0412	L	0.51422	1.61	0.26149	N	0.980163	P	0.37781	0.608	B	0.30401	0.115	T	0.28902	-1.0029	10	0.49607	T	0.09	0.0179	8.0796	0.30737	0.0:0.1677:0.0:0.8323	.	189	Q8NHY3	GA2L2_HUMAN	A	189	ENSP00000254466:D189A	ENSP00000254466:D189A	D	-	2	0	GAS2L2	31101270	0.986000	0.35501	0.134000	0.22075	0.011000	0.07611	2.112000	0.41892	0.749000	0.32854	0.402000	0.26972	GAC			0.741	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256497.1		NM_139285		G	34077157	T	G	34077157	3	3	12	1	0	0	0	0	1	0	0	0	6261	1667	58	4	2096	4	GAS2L2	17	34077157	Missense_Mutation	SNP	T	TCGA-2G-AAFM-01A-11D-A42Y-10		34077157	47118053	46	796											
UNC13D	201294	mdanderson.org	37	chr17	73832673	73832673	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagaagagactgcagccgGgctggggagtccgagacaga	11	4	17	9	2	0	4	0	1	0	4	1	8	1	5	2	3	2	2	2	3	1	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr17:73832673G>T	ENST00000207549.4	-	14	1657	c.1278C>A	c.(1276-1278)gcC>gcA	p.A426A	UNC13D_ENST00000412096.2_Silent_p.A426A	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	426	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)			ACTGCAGCCGGGCTGGGGAGT	0.637									Familial Hemophagocytic Lymphohistiocytosis																												p.A426A													.	.			0			c.C1278A												47	53	51					17																	73832673		2203	4300	6503	SO:0001819	synonymous_variant	201294	exon14	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	CAGCCGGGCTGGG	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.1278C>A	17.37:g.73832673G>T			35	0	0		35	0.09	3	NM_199242	2	0	0	B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	CCDS11730.1																																																																																					0.637	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448847.2		XM_113950		T	73832673	G	T	73832673	2	4	12	1	0	0	0	0	0	0	0	1	17011	1219	43	3		3	UNC13D	17	73832673	Silent	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	39755516	73832673	7362537	47	797											
USP36	57602	mdanderson.org	37	chr17	76799979	76799979	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgacgtccctgggggcttGggggtactggacagcaatgt	6	10	16	9	1	1	1	0	1	1	0	2	2	2	2	1	5	2	3	1	5	2	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr17:76799979G>T	ENST00000542802.3	-	16	2741	c.2298C>A	c.(2296-2298)ccC>ccA	p.P766P	USP36_ENST00000312010.6_Silent_p.P766P|USP36_ENST00000449938.2_Intron			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	766					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)			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)			CTGGGGGCTTGGGGGTACTGG	0.637																																					p.P766P													.	.			0			c.C2298A												26	32	30					17																	76799979		1984	3830	5814	SO:0001819	synonymous_variant	57602	exon16			GGGCTTGGGGGTA	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.2298C>A	17.37:g.76799979G>T			47	0	0		46	0.07	3	NM_025090	19	0	0	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	CCDS32755.1																																																																																					0.637	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437472.3		NM_025090		T	76799979	G	T	76799979	2	4	12	1	0	0	0	0	0	0	0	1	17091	1335	47	3		3	USP36	17	76799979	Silent	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	2967306	76799979	4395231	48	798											
KIAA1012	22878	mdanderson.org	37	chr18	29470790	29470790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtttataaagcaatgtgCtgcctgttccaaaagaagtg	13	12	9	7	0	0	1	0	0	0	1	1	1	1	1	2	0	3	4	2	0	7	4			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr18:29470790C>T	ENST00000283351.4	-	12	1971	c.1636G>A	c.(1636-1638)Gca>Aca	p.A546T	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.A546T|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.A492T	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	546					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGCAATGTGCTGCCTGTTCC	0.363																																					p.A546T													.	.			0			c.G1636A												130	132	131					18																	29470790		2203	4300	6503	SO:0001583	missense	22878	exon12			AATGTGCTGCCTG	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1636G>A	18.37:g.29470790C>T	ENSP00000283351:p.Ala546Thr		88	0	0		52	0.06	3	NM_014939	1	0	0	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641396	0.67244	.	.	ENSG00000153339	ENST00000283351	T	0.80123	-1.34	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.92069	0.5663	10	0.72032	D	0.01	.	20.0796	0.97766	0.0:1.0:0.0:0.0	.	546;546	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	T	546	ENSP00000283351:A546T	ENSP00000283351:A546T	A	-	1	0	TRAPPC8	27724788	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	7.230000	0.78097	2.758000	0.94735	0.460000	0.39030	GCA			0.363	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255355.1		NM_014939		T	29470790	C	T	29470790	3	4	12	1	0	0	0	0	1	0	0	0	8219	797	28	2	2743	2	KIAA1012	18	29470790	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10		29470790	48606458	49	799											
MED16	10025	hgsc.bcm.edu;mdanderson.org	37	chr19	871976	871976	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagggacatgctgtccTgggtatccgaggtggccgta	8	8	16	9	2	0	1	0	0	0	1	2	3	2	2	3	4	2	4	3	4	2	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:871976T>A	ENST00000589119.1	-	11	2047	c.2048A>T	c.(2047-2049)cAg>cTg	p.Q683L	MED16_ENST00000395808.3_Missense_Mutation_p.Q683L|MED16_ENST00000312090.6_Missense_Mutation_p.Q683L|MED16_ENST00000269814.4_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.Q683L|MED16_ENST00000606828.1_5'Flank			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	683					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)		CATGCTGTCCTGGGTATCCGA	0.662																																					p.Q683L													.	.			0			c.A2048T												51	42	45					19																	871976		2171	4277	6448	SO:0001583	missense	10025	exon12			CTGTCCTGGGTAT	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.2048A>T	19.37:g.871976T>A	ENSP00000464810:p.Gln683Leu		75	0	0		85	0.05	4	NM_005481	121	0	0	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	t	11.57	1.678774	0.29783	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808	T;T;T	0.40225	1.04;1.04;1.04	3.96	3.96	0.45880	.	0.000000	0.85682	U	0.000000	T	0.38241	0.1033	N	0.12569	0.235	0.80722	D	1	D;D	0.59357	0.981;0.985	D;D	0.74023	0.969;0.982	T	0.21861	-1.0233	10	0.02654	T	1	-29.8702	12.065	0.53583	0.0:0.0:0.0:1.0	.	683;683	Q9Y2X0-3;Q9Y2X0	.;MED16_HUMAN	L	683	ENSP00000325612:Q683L;ENSP00000308528:Q683L;ENSP00000379153:Q683L	ENSP00000308528:Q683L	Q	-	2	0	MED16	822976	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.407000	0.80029	1.437000	0.47472	0.358000	0.22013	CAG			0.662	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457902.3		NM_005481		A	871976	T	A	871976	3	1	12	1	0	0	0	0	1	0	0	0	9450	1580	55	5	605	5	MED16	19	871976	Missense_Mutation	SNP	T	TCGA-2G-AAFM-01A-11D-A42Y-10		871976	58257007	50	800											
ZBTB7A	51341	mdanderson.org	37	chr19	4054919	4054919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgctgaggatgtcaccCacgttggctgtgctgacggt	5	9	16	11	4	1	2	1	2	0	0	1	3	1	3	1	4	1	4	1	4	0	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:4054919C>T	ENST00000322357.4	-	2	590	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ZBTB7A_ENST00000601588.1_Silent_p.V104V	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	104					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGTCACCCACGTTGGCTG	0.692																																					p.V104V													.	.			0			c.G312A												58	42	48					19																	4054919		2200	4298	6498	SO:0001819	synonymous_variant	51341	exon2			GTCACCCACGTTG	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.312G>A	19.37:g.4054919C>T			21	0	0		37	0.08	3	NM_015898	3	0	0	D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	ENST00000322357.4	37	CCDS12119.1																																																																																					0.692	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457621.2		NM_015898		T	4054919	C	T	4054919	2	4	12	1	0	0	0	0	0	0	0	1	17576	581	21	3		3	ZBTB7A	19	4054919	Silent	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	3182943	4054919	55074064	51	801											
ANKRD24	170961	mdanderson.org	37	chr19	4216046	4216046	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagctgcctgaccttccAggtgagcccccacctcccca	6	7	10	18	0	0	3	0	3	0	0	2	3	2	3	8	2	3	1	8	2	0	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:4216046A>G	ENST00000600132.1	+	16	1545	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	ANKRD24_ENST00000318934.4_Splice_Site_p.P423P|ANKRD24_ENST00000595096.1_3'UTR|ANKRD24_ENST00000262970.5_Splice_Site_p.P513P	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	423										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)		CTGACCTTCCAGGTGAGCCCC	0.652																																					p.P423P													.	.			0			c.A1269G												29	34	32					19																	4216046		2036	4172	6208	SO:0001630	splice_region_variant	170961	exon16			CCTTCCAGGTGAG	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.1270+1A>G	19.37:g.4216046A>G			51	0	0		41	0.07	3	NM_133475	0		0	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																					0.652	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000458188.1		XM_114000	Silent	G	4216046	A	G	4216046	5	3	12	1	0	0	0	0	0	0	1	0	653	202	7	4	1327	4	ANKRD24	19	4216046	Splice_Site	SNP	A	TCGA-2G-AAFM-01A-11D-A42Y-10	161127	4216046	54912937	52	802											
MAP1S	55201	mdanderson.org	37	chr19	17838550	17838550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaggagacgccacccacatCggtcagcgagtccctgccca	9	4	11	17	4	1	1	1	0	0	1	3	4	2	1	4	2	2	0	4	2	0	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:17838550C>T	ENST00000324096.4	+	5	2508	c.2357C>T	c.(2356-2358)tCg>tTg	p.S786L	MAP1S_ENST00000544059.2_Missense_Mutation_p.S760L|MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	786	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCACCCACATCGGTCAGCGAG	0.687																																					p.S786L													.	.			0			c.C2357T												22	23	22					19																	17838550		2195	4299	6494	SO:0001583	missense	55201	exon5			CCACATCGGTCAG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2357C>T	19.37:g.17838550C>T	ENSP00000325313:p.Ser786Leu		56	0	0		38	0.08	3	NM_018174	136	0	0	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585485	0.46110	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.19938	2.11;2.11	4.77	2.59	0.31030	.	0.000000	0.48767	D	0.000170	T	0.39118	0.1066	M	0.73217	2.22	0.23487	N	0.997576	D;D	0.89917	1.0;1.0	D;D	0.67382	0.951;0.951	T	0.13124	-1.0521	10	0.72032	D	0.01	-28.3034	8.2461	0.31689	0.0:0.7524:0.158:0.0896	.	760;786	B4DH53;Q66K74	.;MAP1S_HUMAN	L	786;760	ENSP00000325313:S786L;ENSP00000439243:S760L	ENSP00000325313:S786L	S	+	2	0	MAP1S	17699550	1.000000	0.71417	0.003000	0.11579	0.000000	0.00434	7.516000	0.81772	0.421000	0.25980	-0.947000	0.02670	TCG			0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466027.1		NM_018174		T	17838550	C	T	17838550	3	4	12	1	0	0	0	0	1	0	0	0	9250	893	31	1	2375	1	MAP1S	19	17838550	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	13622504	17838550	41290433	53	803											
CAPNS1	826	broad.mit.edu;mdanderson.org	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000587718.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000588780.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588815.1_Silent_p.G47G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	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.141C>T	19.37:g.36632054C>T			54	0.0555555556	3		116	0.07	8	NM_001749	3	0	0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				T	36632054	C	T	36632054	2	4	12	1	0	0	0	0	0	0	0	1	2635	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	18793504	36632054	22496929	54	804											
ACTN4	81	mdanderson.org	37	chr19	39214851	39214851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctgccggacgccgataggGagcgcgaggccatcctggcc	6	4	15	16	5	0	0	0	0	0	0	1	4	1	2	6	4	2	0	6	4	1	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:39214851G>A	ENST00000252699.2	+	15	1823	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	ACTN4_ENST00000424234.2_Missense_Mutation_p.E193K|ACTN4_ENST00000390009.3_Missense_Mutation_p.E364K	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	583					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCCGATAGGGAGCGCGAGGC	0.662																																					p.E583K	Colon(168;199 1940 10254 46213 46384)												.	.			0			c.G1747A												62	61	61					19																	39214851		2203	4300	6503	SO:0001583	missense	81	exon15			GATAGGGAGCGCG	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1747G>A	19.37:g.39214851G>A	ENSP00000252699:p.Glu583Lys		62	0	0		42	0.07	3	NM_004924	140	0	0	A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206819	0.58343	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	M	0.87827	2.91	0.54753	D	0.999987	D	0.56746	0.977	P	0.58331	0.837	D	0.87234	0.2262	10	0.87932	D	0	.	14.8549	0.70329	0.0:0.0:1.0:0.0	.	583	O43707	ACTN4_HUMAN	K	583;193;364;19	ENSP00000252699:E583K;ENSP00000411187:E193K;ENSP00000439497:E364K;ENSP00000398393:E19K	ENSP00000252699:E583K	E	+	1	0	ACTN4	43906691	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.577000	0.82486	2.106000	0.64143	0.561000	0.74099	GAG			0.662	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268091.1				A	39214851	G	A	39214851	3	1	12	1	0	0	0	0	1	0	0	0	207	1175	41	3	1805	3	ACTN4	19	39214851	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	2582797	39214851	19914132	55	805											
HIPK4	147746	mdanderson.org	37	chr19	40886728	40886728	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagccagacagtagtagggGgtcccatcttctgcggccac	8	8	12	13	1	3	1	1	0	2	1	4	1	4	1	3	3	2	2	3	3	2	3			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:40886728G>T	ENST00000291823.2	-	3	1454	c.1170C>A	c.(1168-1170)acC>acA	p.T390T		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	390					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGTAGTAGGGGGTCCCATCTT	0.642																																					p.T390T													.	.			0			c.C1170A												62	68	66					19																	40886728		2203	4300	6503	SO:0001819	synonymous_variant	147746	exon3			GTAGGGGGTCCCA	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1170C>A	19.37:g.40886728G>T			52	0	0		41	0.07	3	NM_144685	0		0	A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	CCDS12555.1																																																																																					0.642	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462593.1		NM_144685		T	40886728	G	T	40886728	2	4	12	1	0	0	0	0	0	0	0	1	7134	1219	43	3		3	HIPK4	19	40886728	Silent	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	1671877	40886728	18242255	56	806											
CNFN	84518	mdanderson.org	37	chr19	42891589	42891589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaagtcgtcggagatgCggcaggcaaggcacagagga	12	3	16	10	4	0	2	0	0	0	2	2	4	0	3	1	5	1	3	1	5	2	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:42891589C>T	ENST00000222032.5	-	3	201	c.152G>A	c.(151-153)cGc>cAc	p.R51H	CNFN_ENST00000597255.1_Missense_Mutation_p.R51H	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	51	Cys-rich.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				lung(1)|prostate(1)	2		Prostate(69;0.00899)				GTCGGAGATGCGGCAGGCAAG	0.726																																					p.R51H													.	.			0			c.G152A												10	12	11					19																	42891589		2174	4268	6442	SO:0001583	missense	84518	exon3			GAGATGCGGCAGG	AB049591	CCDS12606.1	19q13.31	2006-01-11				ENSG00000105427			30183	protein-coding gene	gene with protein product		611764					Standard	NM_032488		Approved	PLAC8L2	uc002otp.4	Q9BYD5		ENST00000222032.5:c.152G>A	19.37:g.42891589C>T	ENSP00000222032:p.Arg51His		51	0	0		43	0.07	3	NM_032488	20	0.05	1	B2R569	Missense_Mutation	SNP	ENST00000222032.5	37	CCDS12606.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310525	0.60414	.	.	ENSG00000105427	ENST00000222032	.	.	.	4.5	4.5	0.54988	.	0.173855	0.38720	N	0.001599	T	0.59622	0.2207	M	0.61703	1.905	0.32294	N	0.565872	D	0.89917	1.0	D	0.68353	0.957	T	0.64761	-0.6331	9	0.33141	T	0.24	-53.373	8.9863	0.35997	0.0:0.8964:0.0:0.1036	.	51	Q9BYD5	CNFN_HUMAN	H	51	.	ENSP00000222032:R51H	R	-	2	0	CNFN	47583429	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	1.755000	0.38379	2.255000	0.74692	0.545000	0.68477	CGC			0.726	CNFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463859.1		NM_032488		T	42891589	C	T	42891589	3	4	12	1	0	0	0	0	1	0	0	0	3597	768	27	1	194	1	CNFN	19	42891589	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	2004861	42891589	16237394	57	807											
CARD8	22900	hgsc.bcm.edu;broad.mit.edu	37	chr19	48715121	48715122	+	Missense_Mutation	DNP	TC	TC	AA																															tcttttcctgctccaccagcTccttctcattctcagtaaga																										TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	TC	TC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:48715121_48715122TC>AA	ENST00000359009.4	-	10	1453_1454	c.1141_1142GA>TT	c.(1141-1143)GAg>TTg	p.E381L	CARD8_ENST00000519940.1_Missense_Mutation_p.E487L|ZNF114_ENST00000597695.1_Intron|CTC-453G23.8_ENST00000595201.1_RNA|CARD8_ENST00000357778.5_Intron|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000447740.2_Missense_Mutation_p.E437L|CARD8_ENST00000520153.1_Missense_Mutation_p.E437L|CARD8_ENST00000521613.1_Missense_Mutation_p.E437L|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000391898.3_Missense_Mutation_p.E487L			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	381	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CTCCACCAGCTCCTTCTCATTC	0.55																																					p.E487L													.	.			0			c.G1459T																																									SO:0001583	missense	22900	exon11			ACCAGCTCCTTCT	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.1141_1142delinsAA	19.37:g.48715121_48715122delinsAA	ENSP00000351901:p.Glu381Leu		275	0	0		195	0.05	10	NM_001184900	9	0	0	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	DNP	ENST00000359009.4	37																																																																																						0.55	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_014959		AA	48715122	TC	AA	48715121	3	1	12	1	0	0	0	0	1	0	0	0	2653	1551	54	5	157	5	CARD8	19	48715121	Missense_Mutation	DNP	TC	TCGA-2G-AAFM-01A-11D-A42Y-10	5823532	48715121	10413862	58	808											
GYS1	2997	mdanderson.org	37	chr19	49473946	49473946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatccaggctgcggaaccGccggtcaagaatgtagatac	12	7	11	11	3	2	2	2	0	0	2	3	3	3	3	3	3	3	2	3	3	5	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:49473946G>A	ENST00000323798.3	-	14	1862	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	GYS1_ENST00000263276.6_Missense_Mutation_p.R492W|GYS1_ENST00000541188.1_Missense_Mutation_p.R476W|GYS1_ENST00000544287.1_Missense_Mutation_p.R189W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	556					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)		CTGCGGAACCGCCGGTCAAGA	0.587											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R556W													.	.			0			c.C1666T												36	39	38					19																	49473946		2203	4300	6503	SO:0001583	missense	2997	exon14			GGAACCGCCGGTC		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.1666C>T	19.37:g.49473946G>A	ENSP00000317904:p.Arg556Trp		55	0.0181818182	1	962	49	0.06	3	NM_002103	16	0	0	Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302236	0.81136	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.49	-1.21	0.09524	.	0.110383	0.64402	D	0.000012	D	0.84624	0.5513	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.996	D	0.83549	0.0100	10	0.87932	D	0	-28.227	8.8061	0.34938	0.0733:0.0:0.4361:0.4906	.	476;492;556	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	W	556;492;476;189	ENSP00000317904:R556W;ENSP00000263276:R492W;ENSP00000437922:R476W;ENSP00000444004:R189W	ENSP00000263276:R492W	R	-	1	2	GYS1	54165758	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	1.362000	0.34148	0.042000	0.15717	0.561000	0.74099	CGG			0.587	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319791.1		NM_002103		A	49473946	G	A	49473946	3	1	12	1	0	0	0	0	1	0	0	0	6927	1086	38	1	559	1	GYS1	19	49473946	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	758825	49473946	9655037	59	809											
FLT3LG	2323	mdanderson.org	37	chr19	49979713	49979713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctctggcggctggtcCtggcacagcgctggatggag	4	7	19	11	2	1	0	0	0	1	0	2	2	2	2	2	8	1	3	2	8	0	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:49979713C>A	ENST00000594009.1	+	4	311	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	FLT3LG_ENST00000596435.1_Missense_Mutation_p.L78M|FLT3LG_ENST00000204637.2_5'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_Missense_Mutation_p.L78M|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000600429.1_Missense_Mutation_p.L78M|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000344019.3_Missense_Mutation_p.L78M	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	78					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)		GCGGCTGGTCCTGGCACAGCG	0.642											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L78M													.	.			0			c.C232A												35	35	35					19																	49979713		2203	4300	6503	SO:0001583	missense	2323	exon4			CTGGTCCTGGCAC	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.232C>A	19.37:g.49979713C>A	ENSP00000469613:p.Leu78Met		49	0	0	966	45	0.07	3	NM_001204503	34	0	0	A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	ENST00000594009.1	37	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421428	0.62622	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.36	2.05	0.26809	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.264174	0.31156	U	0.008148	T	0.45418	0.1341	L	0.32530	0.975	0.29292	N	0.869317	D	0.89917	1.0	D	0.85130	0.997	T	0.24799	-1.0150	9	0.72032	D	0.01	-9.8339	4.8708	0.13631	0.0:0.6576:0.2223:0.1201	.	78	P49771	FLT3L_HUMAN	M	78	.	ENSP00000204637:L78M	L	+	1	2	FLT3LG	54671525	0.962000	0.33011	1.000000	0.80357	0.845000	0.48019	1.311000	0.33562	2.131000	0.65755	0.549000	0.68633	CTG			0.642	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465305.1				A	49979713	C	A	49979713	3	1	12	1	0	0	0	0	1	0	0	0	5956	680	24	3	246	3	FLT3LG	19	49979713	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	505767	49979713	9149270	60	810											
SPIB	6689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50926238	50926238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgaactggcccccagcCtggaggccccggggcctggc	5	4	14	18	2	0	0	0	0	0	0	1	2	0	1	7	6	2	0	7	6	1	0			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr19:50926238C>A	ENST00000595883.1	+	4	308	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	SPIB_ENST00000597855.1_Missense_Mutation_p.L95M|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.P229H|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Missense_Mutation_p.L95M|SPIB_ENST00000439922.2_Intron	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)	95					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)		GGCCCCCAGCCTGGAGGCCCC	0.647																																					p.L95M													.	.			0			c.C283A												31	35	33					19																	50926238		2195	4279	6474	SO:0001583	missense	6689	exon4			CCCAGCCTGGAGG		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.283C>A	19.37:g.50926238C>A	ENSP00000471921:p.Leu95Met		235	0	0		158	0.13	20	NM_001243999	17	0.06	1	A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	14.44	2.536753	0.45176	.	.	ENSG00000142539	ENST00000270632	T	0.61510	0.1	4.98	2.79	0.32731	.	0.372474	0.18563	N	0.137547	T	0.46308	0.1386	M	0.61703	1.905	0.80722	D	1	P;B	0.41102	0.738;0.123	B;B	0.35413	0.202;0.025	T	0.30534	-0.9975	10	0.30854	T	0.27	-0.0853	5.7371	0.18073	0.193:0.7034:0.0:0.1036	.	95;95	Q01892-2;Q01892	.;SPIB_HUMAN	M	95	ENSP00000270632:L95M	ENSP00000270632:L95M	L	+	1	2	SPIB	55618050	0.956000	0.32656	1.000000	0.80357	0.695000	0.40330	0.332000	0.19751	0.577000	0.29470	0.462000	0.41574	CTG			0.647	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000464744.1		NM_003121		A	50926238	C	A	50926238	3	1	12	1	0	0	0	0	1	0	0	0	15073	680	24	3	297	3	SPIB	19	50926238	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10	946525	50926238	8202745	61	811											
ZNF512B	57473	mdanderson.org	37	chr20	62595260	62595260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgccactgctcttcaGggccacctgtgggtaaggca	6	9	11	15	0	3	0	1	0	2	0	3	0	3	0	4	3	2	3	4	3	1	2			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr20:62595260G>T	ENST00000450537.1	-	9	1547	c.1487C>A	c.(1486-1488)cCt>cAt	p.P496H	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P496H|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P496H			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	496					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)					CTGCTCTTCAGGGCCACCTGT	0.652																																					p.P496H													.	.			0			c.C1487A												40	43	42					20																	62595260		2203	4296	6499	SO:0001583	missense	57473	exon9			TCTTCAGGGCCAC	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.1487C>A	20.37:g.62595260G>T	ENSP00000393795:p.Pro496His		41	0	0		47	0.06	3	NM_020713	0		0	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975832	0.34848	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25085	1.82;1.82;1.82	4.62	3.64	0.41730	.	0.465637	0.22147	N	0.063976	T	0.36608	0.0973	L	0.55481	1.735	0.29208	N	0.874766	D	0.69078	0.997	P	0.59012	0.85	T	0.15752	-1.0426	10	0.36615	T	0.2	-3.6184	8.9653	0.35872	0.0:0.1613:0.672:0.1666	.	496	Q96KM6	Z512B_HUMAN	H	496	ENSP00000358904:P496H;ENSP00000393795:P496H;ENSP00000217130:P496H	ENSP00000217130:P496H	P	-	2	0	ZNF512B	62065704	1.000000	0.71417	0.906000	0.35671	0.181000	0.23173	3.116000	0.50399	0.885000	0.36088	0.467000	0.42956	CCT			0.652	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080246.1		NM_020713		T	62595260	G	T	62595260	3	4	12	1	0	0	0	0	1	0	0	0	17980	1000	35	3	1227	3	ZNF512B	20	62595260	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10		62595260	430260	62	812											
KRTAP10-2	386679	mdanderson.org	37	chr21	45970730	45970730	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcagcacggagaggaagcCccagagcaaacaggtacaca	15	2	13	11	1	0	2	0	0	0	2	0	4	0	3	2	4	5	4	2	4	3	1			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr21:45970730C>A	ENST00000391621.1	-	1	658	c.612G>T	c.(610-612)ggG>ggT	p.G204G	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	204	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GAGAGGAAGCCCCAGAGCAAA	0.632																																					p.G204G													.	.			0			c.G612T												127	135	132					21																	45970730		2203	4300	6503	SO:0001819	synonymous_variant	386679	exon1			GGAAGCCCCAGAG	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.612G>T	21.37:g.45970730C>A			32	0	0		62	0.05	3	NM_198693	2	0	0	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																					0.632	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128027.1				A	45970730	C	A	45970730	2	1	12	1	0	0	0	0	0	0	0	1	8524	610	22	3		3	KRTAP10-2	21	45970730	Silent	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10		45970730	2159165	63	813											
CPT1B	1375	mdanderson.org	37	chr22	51016211	51016211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtgcgcaccttgatgCggatcaggcgtttcttccag	6	11	11	13	3	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	0	3			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chr22:51016211C>T	ENST00000360719.2	-	2	271	c.134G>A	c.(133-135)cGc>cAc	p.R45H	CPT1B_ENST00000395650.2_Missense_Mutation_p.R45H|CPT1B_ENST00000440709.1_Missense_Mutation_p.R45H|CHKB_ENST00000463053.1_5'Flank|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.R45H|CPT1B_ENST00000457250.1_Missense_Mutation_p.R45H|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Missense_Mutation_p.R45H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	45					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		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)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CACCTTGATGCGGATCAGGCG	0.607																																					p.R45H	Esophageal Squamous(170;988 1933 25577 30295 48163)												.	.			0			c.G134A												99	87	91					22																	51016211		2203	4300	6503	SO:0001583	missense	1375	exon2			TTGATGCGGATCA	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.134G>A	22.37:g.51016211C>T	ENSP00000353945:p.Arg45His		44	0	0		58	0.05	3	NM_001145135	8	0	0	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252331	0.80135	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	D;D;D;D;D;D;T	0.87029	-2.08;-2.08;-2.08;-2.2;-2.15;-2.08;-0.42	5.11	5.11	0.69529	.	0.157513	0.42172	D	0.000746	D	0.92361	0.7576	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	0.999;0.993;1.0	P;P;D	0.66084	0.869;0.852;0.941	D	0.92699	0.6173	10	0.59425	D	0.04	-22.0397	11.8511	0.52412	0.0:0.8231:0.1769:0.0	.	45;45;45	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	H	45	ENSP00000385486:R45H;ENSP00000312189:R45H;ENSP00000353945:R45H;ENSP00000409342:R45H;ENSP00000414713:R45H;ENSP00000379011:R45H;ENSP00000406316:R45H	ENSP00000312189:R45H	R	-	2	0	CPT1B	49363077	0.987000	0.35691	1.000000	0.80357	0.922000	0.55478	2.628000	0.46477	2.378000	0.81104	0.561000	0.74099	CGC			0.607	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317264.5		NM_152246		T	51016211	C	T	51016211	3	4	12	1	0	0	0	0	1	0	0	0	3834	768	27	1	2256	1	CPT1B	22	51016211	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10		51016211	288355	64	814											
VSIG4	11326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	65253547	65253547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgacagggtctgagcCacgttgtaccagccacttca	9	9	12	11	1	2	2	1	2	1	0	2	3	2	2	3	2	3	2	3	2	1	3			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chrX:65253547C>A	ENST00000374737.4	-	2	289	c.181G>T	c.(181-183)Ggc>Tgc	p.G61C	VSIG4_ENST00000412866.2_Missense_Mutation_p.G61C|VSIG4_ENST00000455586.2_Missense_Mutation_p.G61C	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	61	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGTCTGAGCCACGTTGTACC	0.547																																					p.G61C													.	.			0			c.G181T												115	80	92					X																	65253547		2203	4300	6503	SO:0001583	missense	11326	exon2			CTGAGCCACGTTG	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.181G>T	X.37:g.65253547C>A	ENSP00000363869:p.Gly61Cys		153	0	0		179	0.3	54	NM_001100431	5	0	0	Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	C	1.604	-0.525710	0.04141	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866;ENST00000423830	T;T;T;T	0.08008	3.14;3.14;3.14;4.13	4.93	3.1	0.35709	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.516425	0.18791	N	0.131044	T	0.20210	0.0486	M	0.64997	1.995	0.09310	N	1	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.991;1.0	P;D;D;P;D	0.72338	0.725;0.96;0.966;0.604;0.977	T	0.04255	-1.0965	10	0.72032	D	0.01	-0.1026	5.1717	0.15114	0.0:0.6759:0.209:0.1151	.	61;61;51;61;61	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.;.;.;.;VSIG4_HUMAN	C	61	ENSP00000363869:G61C;ENSP00000411581:G61C;ENSP00000394143:G61C;ENSP00000414594:G61C	ENSP00000363869:G61C	G	-	1	0	VSIG4	65170272	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	0.155000	0.16362	0.831000	0.34780	0.594000	0.82650	GGC			0.547	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056986.1		NM_007268		A	65253547	C	A	65253547	3	1	12	1	0	0	0	0	1	0	0	0	17249	594	21	3	1050	3	VSIG4	23	65253547	Missense_Mutation	SNP	C	TCGA-2G-AAFM-01A-11D-A42Y-10		65253547	90017013	65	815											
BRCC3	79184	broad.mit.edu	37	chrX	154348401	154348401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaaaaggaagagcttatGcaagaactttcttctctaga	16	10	8	7	0	2	4	0	0	2	4	3	5	2	5	0	1	3	2	0	1	8	4			TCGA-2G-AAFM-01A-11D-A42Y-10	TCGA-2G-AAFM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8be26d25-830f-4431-baf5-beeeef18d14b	f6c51fe1-7d6d-4ef6-aacb-cddbdd9be8b0	g.chrX:154348401G>T	ENST00000369462.1	+	11	952	c.927G>T	c.(925-927)atG>atT	p.M309I	BRCC3_ENST00000330045.7_Missense_Mutation_p.M284I|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.M310I|BRCC3_ENST00000340647.4_Missense_Mutation_p.M285I|BRCC3_ENST00000369459.2_Missense_Mutation_p.M240I	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	309					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)					AAGAGCTTATGCAAGAACTTT	0.418																																					p.M309I													.	BRCC3	44		0			c.G927T												86	84	84					X																	154348401		1944	4137	6081	SO:0001583	missense	79184	exon11			GCTTATGCAAGAA	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.927G>T	X.37:g.154348401G>T	ENSP00000358474:p.Met309Ile		100	0	0		150	0.03	4	NM_024332	6	0	0	A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259009	0.59321	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000399042;ENST00000457026	T;T;T;T;T	0.42900	0.97;0.97;0.98;0.96;0.96	5.1	4.23	0.50019	.	0.620609	0.17763	N	0.162829	T	0.29914	0.0748	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.05550	-1.0878	10	0.42905	T	0.14	-3.3084	11.9698	0.53058	0.0892:0.0:0.9108:0.0	.	284;309	P46736-2;P46736	.;BRCC3_HUMAN	I	285;284;240;309;310;241	ENSP00000344103:M285I;ENSP00000328641:M284I;ENSP00000358471:M240I;ENSP00000358474:M309I;ENSP00000381998:M310I	ENSP00000328641:M284I	M	+	3	0	BRCC3	154001595	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.246000	0.58740	1.220000	0.43490	0.594000	0.82650	ATG			0.418	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000058788.4		NM_024332		T	154348401	G	T	154348401	3	4	12	1	0	0	0	0	1	0	0	0	1502	1319	46	2	969	2	BRCC3	23	154348401	Missense_Mutation	SNP	G	TCGA-2G-AAFM-01A-11D-A42Y-10	89094854	154348401	922159	66	816											
CHD5	26038	mdanderson.org	37	chr1	6185281	6185281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttccgctgtcgggcatTgaagcccagcacctgggcga	6	7	14	14	3	0	1	0	1	0	0	2	2	1	1	4	3	2	3	4	3	1	2			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:6185281T>C	ENST00000262450.3	-	29	4372	c.4273A>G	c.(4273-4275)Aat>Gat	p.N1425D	CHD5_ENST00000378021.1_Missense_Mutation_p.N282D	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)		TGTCGGGCATTGAAGCCCAGC	0.642																																					p.N1425D													.	.			0			c.A4273G												29	33	31					1																	6185281		2203	4300	6503	SO:0001583	missense	26038	exon29			GGGCATTGAAGCC	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.4273A>G	1.37:g.6185281T>C	ENSP00000262450:p.Asn1425Asp		28	0	0		51	0.06	3	NM_015557	0		0	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483698	0.84854	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.92965	-3.14;1.87	4.5	4.5	0.54988	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.95739	0.8614	M	0.80422	2.495	0.58432	D	0.999995	D;D	0.69078	0.997;0.991	D;D	0.77004	0.989;0.953	D	0.96314	0.9231	10	0.87932	D	0	-19.407	14.1146	0.65144	0.0:0.0:0.0:1.0	.	1425;282	Q8TDI0;Q5TG85	CHD5_HUMAN;.	D	1425;941;282;833;833;282	ENSP00000262450:N1425D;ENSP00000367260:N282D	ENSP00000262450:N1425D	N	-	1	0	CHD5	6107868	1.000000	0.71417	0.985000	0.45067	0.393000	0.30537	7.581000	0.82535	1.802000	0.52723	0.459000	0.35465	AAT			0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002823.2		NM_015557		C	6185281	T	C	6185281	3	2	13	1	0	0	0	0	1	0	0	0	3330	1812	63	4	1643	4	CHD5	1	6185281	Missense_Mutation	SNP	T	TCGA-2G-AAFN-01A-31D-A42Y-10		6185281	243065340	1	817											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898009	26898009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggaatcccgagtgcctgCgcatctgtgactttggtttt	5	13	12	11	3	1	1	0	1	1	0	2	3	2	2	3	2	2	2	3	2	1	3			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:26898009C>T	ENST00000374168.2	+	18	1814	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R462C|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R462C|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R538C|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R543C|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R563C	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	554	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|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 apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CGAGTGCCTGCGCATCTGTGA	0.587																																					p.R563C													.	RPS6KA1	65		0			c.C1687T												91	80	84					1																	26898009		2203	4300	6503	SO:0001583	missense	6195	exon17			TGCCTGCGCATCT	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1660C>T	1.37:g.26898009C>T	ENSP00000363283:p.Arg554Cys		185	0	0		273	0.02	6	NM_001006665	78	0	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072915	0.76415	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.55	5.55	0.83447	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	0.57873	0.2083	L	0.46670	1.46	0.80722	D	1	D;D;D	0.89917	0.992;0.994;1.0	P;B;D	0.87578	0.687;0.439;0.998	T	0.59289	-0.7482	10	0.87932	D	0	.	14.3504	0.66697	0.1481:0.8519:0.0:0.0	.	538;563;554	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	C	554;543;462;462;538;563	ENSP00000363283:R554C;ENSP00000363281:R543C;ENSP00000431651:R462C;ENSP00000363277:R462C;ENSP00000432281:R538C;ENSP00000435412:R563C	ENSP00000363277:R462C	R	+	1	0	RPS6KA1	26770596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.935000	0.48963	2.591000	0.87537	0.563000	0.77884	CGC			0.587	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011431.1		NM_002953		T	26898009	C	T	26898009	3	4	13	1	0	0	0	0	1	0	0	0	13673	768	27	1	1869	1	RPS6KA1	1	26898009	Missense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10	20712728	26898009	222352612	2	818											
GPATCH3	63906	mdanderson.org	37	chr1	27226507	27226507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccgtaggtagccgaaGtctgcggatgagacagcgac	9	7	14	11	4	1	1	0	1	1	1	2	5	2	2	3	2	4	2	3	2	3	2			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:27226507G>T	ENST00000361720.5	-	1	450	c.427C>A	c.(427-429)Ctt>Att	p.L143I		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	143							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGTAGCCGAAGTCTGCGGATG	0.572																																					p.L143I													.	.			0			c.C427A												52	57	56					1																	27226507		2203	4300	6503	SO:0001583	missense	63906	exon1			GCCGAAGTCTGCG	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.427C>A	1.37:g.27226507G>T	ENSP00000354645:p.Leu143Ile		69	0	0		114	0.04	5	NM_022078	47	0	0	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	8.781	0.928279	0.18131	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.33865	1.39	5.36	5.36	0.76844	.	0.132433	0.50627	D	0.000102	T	0.22820	0.0551	L	0.28649	0.875	0.41644	D	0.989094	B	0.23128	0.08	B	0.18871	0.023	T	0.04900	-1.0919	10	0.05721	T	0.95	-17.073	12.3856	0.55330	0.0:0.1823:0.8177:0.0	.	143	Q96I76	GPTC3_HUMAN	I	143	ENSP00000354645:L143I	ENSP00000354645:L143I	L	-	1	0	GPATCH3	27099094	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.809000	0.47971	2.763000	0.94921	0.655000	0.94253	CTT			0.572	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012181.1		NM_022078		T	27226507	G	T	27226507	3	4	13	1	0	0	0	0	1	0	0	0	6606	1029	36	3	1178	3	GPATCH3	1	27226507	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	328498	27226507	222024114	3	819											
DNASE2B	58511	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	84880407	84880407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtatttcccaaaagggCaccaaaaatcgctggacatg	13	9	10	9	1	0	0	0	0	0	0	2	1	1	1	2	3	0	3	2	3	5	2			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:84880407C>T	ENST00000370665.3	+	6	975	c.942C>T	c.(940-942)ggC>ggT	p.G314G	DNASE2B_ENST00000370662.3_Silent_p.G106G	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	314					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CCCAAAAGGGCACCAAAAATC	0.393																																					p.G314G	Pancreas(54;788 1175 11852 16034 30034)												.	DNASE2B	40		0			c.C942T												58	56	57					1																	84880407		2203	4300	6503	SO:0001819	synonymous_variant	58511	exon6			AAAGGGCACCAAA	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.942C>T	1.37:g.84880407C>T			253	0	0		308	0.04	12	NM_021233	0		0	Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	CCDS44167.1																																																																																					0.393	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000027248.1		NM_021233		T	84880407	C	T	84880407	2	4	13	1	0	0	0	0	0	0	0	1	4670	697	25	2		2	DNASE2B	1	84880407	Silent	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10	57653900	84880407	164370214	4	820											
WDR63	126820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	85573731	85573731	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttagcacaatatgtttttgGgatattagaccacagaaacc	14	13	7	7	0	0	2	0	0	0	2	0	3	0	3	2	1	2	2	2	1	6	7			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:85573731G>A	ENST00000294664.6	+	15	1749	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	WDR63_ENST00000326813.8_Nonsense_Mutation_p.W484*|WDR63_ENST00000370596.1_Nonsense_Mutation_p.W484*	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	523										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATGTTTTTGGGATATTAGAC	0.328																																					p.W523X													.	.			0			c.G1569A												53	51	52					1																	85573731		2202	4299	6501	SO:0001587	stop_gained	126820	exon15			TTTTTGGGATATT		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1569G>A	1.37:g.85573731G>A	ENSP00000294664:p.Trp523*		68	0	0		56	0.25	14	NM_145172	0		0	A8K988|Q96L72|Q96NU4	Nonsense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	39	7.865685	0.98534	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	.	.	.	5.59	5.59	0.84812	.	0.120190	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3607	16.5041	0.84264	0.0:0.0:1.0:0.0	.	.	.	.	X	484;484;523	.	ENSP00000294664:W523X	W	+	3	0	WDR63	85346319	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.790000	0.69038	2.610000	0.88304	0.650000	0.86243	TGG			0.328	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027565.2		NM_145172		A	85573731	G	A	85573731	4	1	13	1	0	0	0	0	0	1	0	0	17338	1241	43	3	1623	3	WDR63	1	85573731	Nonsense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	693324	85573731	163676890	5	821											
ETV3L	440695	broad.mit.edu	37	chr1	157062558	157062558	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagacctccctgggatccagGcctccctttgcctccatcat	7	10	7	17	0	1	1	1	0	0	1	5	2	5	2	7	2	1	0	7	2	1	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:157062558G>T	ENST00000454449.2	-	5	1253	c.969C>A	c.(967-969)ggC>ggA	p.G323G		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	323					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TGGGATCCAGGCCTCCCTTTG	0.607																																					p.G323G													.	ETV3L	73		0			c.C969A												69	67	68					1																	157062558		2203	4300	6503	SO:0001819	synonymous_variant	440695	exon5			ATCCAGGCCTCCC	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.969C>A	1.37:g.157062558G>T			132	0	0		212	0.02	4	NM_001004341	1	0	0		Silent	SNP	ENST00000454449.2	37	CCDS30893.1																																																																																					0.607	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000099024.2		NM_001004341		T	157062558	G	T	157062558	2	4	13	1	0	0	0	0	0	0	0	1	5287	1190	42	2		2	ETV3L	1	157062558	Silent	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	71488827	157062558	92188063	6	822											
C1orf114	57821	mdanderson.org	37	chr1	169390745	169390745	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattccctttacttcgatcTgagttgacagcagagcttgg	8	13	9	11	1	1	3	0	2	1	1	3	4	2	3	2	1	3	3	2	1	1	6			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:169390745T>C	ENST00000367806.3	-	3	1076	c.924A>G	c.(922-924)tcA>tcG	p.S308S	CCDC181_ENST00000367805.3_Silent_p.S308S|CCDC181_ENST00000545005.1_Silent_p.S308S|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	308						nucleus (GO:0005634)											TACTTCGATCTGAGTTGACAG	0.478																																					p.S308S													.	.			0			c.A924G												161	150	154					1																	169390745		2203	4300	6503	SO:0001819	synonymous_variant	57821	exon3			TCGATCTGAGTTG	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.924A>G	1.37:g.169390745T>C			93	0	0		131	0.04	5	NM_021179	2	0	0	O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37																																																																																						0.478	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000086099.1		NM_021179		C	169390745	T	C	169390745	2	2	13	1	0	0	0	0	0	0	0	1	1989	1567	55	4		4	C1orf114	1	169390745	Silent	SNP	T	TCGA-2G-AAFN-01A-31D-A42Y-10	12328187	169390745	79859876	7	823											
TBCE	6905	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr1	235577756	235577756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttaccaggcacccgaCaggaggatcctttattcgtc	8	12	8	13	2	1	0	0	0	1	0	4	3	2	2	3	3	1	1	3	3	2	6	rs144747353	byFrequency	TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:235577756C>G	ENST00000366601.3	+	4	370	c.194C>G	c.(193-195)aCa>aGa	p.T65R	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000543662.1_Missense_Mutation_p.T65R|TBCE_ENST00000406207.1_Missense_Mutation_p.T65R			Q15813	TBCE_HUMAN	tubulin folding cofactor E	65	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGGCACCCGACAGGAGGATCC	0.383																																					p.T65R													.	.			0			c.C194G												100	105	103					1																	235577756		2203	4300	6503	SO:0001583	missense	6905	exon4			ACCCGACAGGAGG	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"tubulin-specific chaperone e", "Kenny-Caffey syndrome", "hypoparathyroidism, growth and mental retardation, and dysmorphism"	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.194C>G	1.37:g.235577756C>G	ENSP00000355560:p.Thr65Arg		70	0	0		59	0.12	7	NM_003193	40	0.25	10	A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400252	0.42613	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.55413	0.52;0.52;0.52	5.33	5.33	0.75918	Cytoskeleton-associated protein, Gly-rich domain (4);	0.264028	0.40064	N	0.001186	T	0.48519	0.1504	L	0.31804	0.96	0.58432	D	0.999992	P;B	0.37731	0.607;0.231	B;B	0.43809	0.432;0.25	T	0.31081	-0.9956	10	0.19590	T	0.45	-21.8618	18.1429	0.89646	0.0:1.0:0.0:0.0	.	65;65	B7Z3P1;Q15813	.;TBCE_HUMAN	R	65	ENSP00000355560:T65R;ENSP00000384571:T65R;ENSP00000439170:T65R	ENSP00000355560:T65R	T	+	2	0	TBCE	233644379	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	1.901000	0.39838	2.648000	0.89879	0.585000	0.79938	ACA			0.383	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000096458.3		NM_003193		G	235577756	C	G	235577756	3	3	13	1	0	0	0	0	1	0	0	0	15657	478	17	5	204	5	TBCE	1	235577756	Missense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10	66187011	235577756	13672865	8	824											
WDR33	55339	mdanderson.org	37	chr2	128480869	128480869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccaggtaaaaggtttaGattatatcgatctcgcattt	12	15	7	7	2	1	1	0	0	1	1	4	2	2	1	1	2	0	3	1	2	5	7			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr2:128480869G>T	ENST00000322313.4	-	12	1407	c.1249C>A	c.(1249-1251)Cta>Ata	p.L417I		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	417					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)		AAAAGGTTTAGATTATATCGA	0.358																																					p.L417I													.	.			0			c.C1249A												149	159	155					2																	128480869		2203	4300	6503	SO:0001583	missense	55339	exon12			GGTTTAGATTATA		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.1249C>A	2.37:g.128480869G>T	ENSP00000325377:p.Leu417Ile		108	0	0		103	0.05	5	NM_018383	4	0	0	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618592	0.46736	.	.	ENSG00000136709	ENST00000322313	D	0.90261	-2.64	5.24	4.33	0.51752	.	0.000000	0.64402	D	0.000001	D	0.92315	0.7562	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	D	0.89820	0.3988	10	0.31617	T	0.26	-10.0897	5.988	0.19444	0.376:0.0:0.624:0.0	.	417	Q9C0J8	WDR33_HUMAN	I	417	ENSP00000325377:L417I	ENSP00000325377:L417I	L	-	1	2	WDR33	128197339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.829000	0.39121	1.236000	0.43740	0.655000	0.94253	CTA			0.358	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331141.2		NM_018383		T	128480869	G	T	128480869	3	4	13	1	0	0	0	0	1	0	0	0	17311	933	33	3	2805	3	WDR33	2	128480869	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10		128480869	114718504	9	825											
TLK1	9874	broad.mit.edu	37	chr2	171911637	171911637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttggttgtacaatagggtGgtccccaaatgctaatgcag	10	12	11	8	0	0	0	0	0	0	0	1	0	1	0	2	3	3	4	2	3	5	5			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr2:171911637G>T	ENST00000431350.2	-	7	999	c.595C>A	c.(595-597)Cac>Aac	p.H199N	TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000434911.2_Missense_Mutation_p.H103N|TLK1_ENST00000521943.1_Missense_Mutation_p.H151N|TLK1_ENST00000442919.2_Missense_Mutation_p.H151N|TLK1_ENST00000360843.3_Missense_Mutation_p.H220N			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	199					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACAATAGGGTGGTCCCCAAAT	0.284																																					p.H199N													.	TLK1	134		0			c.C595A												50	54	52					2																	171911637		2201	4298	6499	SO:0001583	missense	9874	exon7			TAGGGTGGTCCCC	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.595C>A	2.37:g.171911637G>T	ENSP00000411099:p.His199Asn		602	0.0016611296	1		568	0.01	6	NM_012290	6	0	0	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935675	0.52972	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911;ENST00000453628	T;T;T;T;T;T	0.62232	0.08;0.05;0.04;0.08;0.06;2.08	5.5	5.5	0.81552	.	0.099468	0.64402	D	0.000001	T	0.56307	0.1976	L	0.45581	1.43	0.58432	D	0.999992	B;B;P	0.38048	0.167;0.03;0.616	B;B;B	0.32677	0.15;0.036;0.15	T	0.57306	-0.7834	10	0.37606	T	0.19	.	19.4028	0.94637	0.0:0.0:1.0:0.0	.	103;220;199	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	N	151;199;220;151;103;124	ENSP00000402165:H151N;ENSP00000411099:H199N;ENSP00000354089:H220N;ENSP00000428113:H151N;ENSP00000409222:H103N;ENSP00000393165:H124N	ENSP00000354089:H220N	H	-	1	0	TLK1	171619883	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.239000	0.78182	2.592000	0.87571	0.585000	0.79938	CAC			0.284	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255314.1		NM_012290		T	171911637	G	T	171911637	3	4	13	1	0	0	0	0	1	0	0	0	15966	1348	47	3	1765	3	TLK1	2	171911637	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	43430768	171911637	71287736	10	826											
CNTN4	152330	broad.mit.edu	37	chr3	3067877	3067877	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtaacgcatgatcactcGctagacatcgtgtttacttg	10	12	9	10	3	1	2	1	1	0	1	3	2	1	2	0	1	2	4	0	1	3	5	rs375250470		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr3:3067877G>T	ENST00000397461.1	+	14	1962	c.1578G>T	c.(1576-1578)tcG>tcT	p.S526S	CNTN4_ENST00000358480.3_Silent_p.S307S|CNTN4_ENST00000427331.1_Silent_p.S526S|CNTN4_ENST00000397459.2_Silent_p.S198S|CNTN4_ENST00000418658.1_Silent_p.S526S|CNTN4_ENST00000448906.2_Silent_p.S198S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	526	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGATCACTCGCTAGACATCG	0.448																																					p.S526S													CNTN4_ENST00000418658,NS,carcinoma,0,2	CNTN4	335	2	0			c.G1578T												189	157	168					3																	3067877		2203	4300	6503	SO:0001819	synonymous_variant	152330	exon15			TCACTCGCTAGAC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1578G>T	3.37:g.3067877G>T			176	0.0056818182	1		216	0.02	5	NM_175607	0		0	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																					0.448	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239236.2				T	3067877	G	T	3067877	2	4	13	1	0	0	0	0	0	0	0	1	3645	1074	38	1		1	CNTN4	3	3067877	Silent	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10		3067877	194954553	11	827											
DCUN1D4	23142	broad.mit.edu	37	chr4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaggaaaaatctggccccTttttccagtttttcaccaat	11	15	5	10	0	2	0	1	0	1	0	3	1	3	1	4	2	0	1	4	2	4	5			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	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																																					p.L231P													.	DCUN1D4	26		0			c.T692C												121	119	119					4																	52777312		2203	4300	6503	SO:0001583	missense	23142	exon9			GGCCCCTTTTTCC	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		130	0.0076923077	1		128	0.03	4	NM_001040402	5	0	0	B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	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		C	52777312	T	C	52777312	3	2	13	1	0	0	0	0	1	0	0	0	4318	1609	56	4	726	4	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-2G-AAFN-01A-31D-A42Y-10		52777312	138376964	12	828											
ADH4	127	broad.mit.edu	37	chr4	100052899	100052899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggccaaagacagcacaaGtcgaaccaggggtgacctgc	13	4	12	12	1	0	2	0	1	0	1	1	3	0	2	3	3	3	1	3	3	4	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr4:100052899G>T	ENST00000265512.7	-	6	673	c.599C>A	c.(598-600)aCt>aAt	p.T200N	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.T219N|ADH4_ENST00000505590.1_Missense_Mutation_p.T219N|ADH4_ENST00000508393.1_Missense_Mutation_p.T219N	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	200					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)		GACAGCACAAGTCGAACCAGG	0.463																																					p.T200N													.	ADH4	35		0			c.C599A												52	53	52					4																	100052899		2203	4299	6502	SO:0001583	missense	127	exon6			GCACAAGTCGAAC	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.599C>A	4.37:g.100052899G>T	ENSP00000265512:p.Thr200Asn		70	0	0		66	0.05	3	NM_000670	0		0	A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184173	0.38609	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;3.42;3.45	4.39	4.39	0.52855	GroES-like (1);	0.229288	0.35870	N	0.002924	T	0.49321	0.1550	M	0.75447	2.3	0.80722	D	1	B;P	0.47962	0.379;0.903	B;P	0.60117	0.259;0.869	T	0.52909	-0.8512	10	0.54805	T	0.06	-4.1236	17.1908	0.86879	0.0:0.0:1.0:0.0	.	219;200	P08319-2;P08319	.;ADH4_HUMAN	N	219;200;219;219;219;182	ENSP00000424630:T219N;ENSP00000265512:T200N;ENSP00000397939:T219N;ENSP00000425416:T219N;ENSP00000423571:T219N;ENSP00000427525:T182N	ENSP00000265512:T200N	T	-	2	0	ADH4	100271922	0.997000	0.39634	0.154000	0.22540	0.215000	0.24574	2.467000	0.45093	2.295000	0.77249	0.650000	0.86243	ACT			0.463	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364220.2		NM_000670		T	100052899	G	T	100052899	3	4	13	1	0	0	0	0	1	0	0	0	310	1029	36	3	559	3	ADH4	4	100052899	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	47275587	100052899	91101377	13	829											
PCDH18	54510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	138450831	138450831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgatgagattgtcaccaaActgttgagtgactggtgact	10	14	11	6	0	1	5	1	5	0	1	1	6	1	5	1	1	1	1	1	1	1	3			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr4:138450831A>G	ENST00000344876.4	-	1	2798	c.2412T>C	c.(2410-2412)agT>agC	p.S804S	PCDH18_ENST00000507846.1_Silent_p.S584S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.S804S|PCDH18_ENST00000510305.1_Silent_p.S15S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	804					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGTCACCAAACTGTTGAGTG	0.478																																					p.S804S													.	.			0			c.T2412C												132	114	120					4																	138450831		2203	4300	6503	SO:0001819	synonymous_variant	54510	exon1			CACCAAACTGTTG	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2412T>C	4.37:g.138450831A>G			123	0	0		112	0.49	55	NM_019035	1	0	0	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																					0.478	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000364614.1		NM_019035		G	138450831	A	G	138450831	2	3	13	1	0	0	0	0	0	0	0	1	11530	40	2	4		4	PCDH18	4	138450831	Silent	SNP	A	TCGA-2G-AAFN-01A-31D-A42Y-10	38397932	138450831	52703445	14	830											
RBM46	166863	mdanderson.org	37	chr4	155718042	155718042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggacaaaggaaatttggCggtcctcctccaggtgtgga	11	9	13	8	1	0	0	0	0	0	0	3	3	3	3	3	6	0	0	3	6	3	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr4:155718042C>T	ENST00000281722.3	+	2	373	c.138C>T	c.(136-138)ggC>ggT	p.G46G	RBM46_ENST00000510397.1_Silent_p.G46G|RBM46_ENST00000514866.1_Silent_p.G46G	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	46							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GGAAATTTGGCGGTCCTCCTC	0.378																																					p.G46G													.	.			0			c.C138T												109	105	106					4																	155718042		2203	4300	6503	SO:0001819	synonymous_variant	166863	exon2			ATTTGGCGGTCCT	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.138C>T	4.37:g.155718042C>T			52	0	0		39	0.08	3	NM_144979	1	0	0	B3KWU8|B4DZ27	Silent	SNP	ENST00000281722.3	37	CCDS3790.1																																																																																					0.378	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365259.1		NM_144979		T	155718042	C	T	155718042	2	4	13	1	0	0	0	0	0	0	0	1	13163	755	27	1		1	RBM46	4	155718042	Silent	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10	17267211	155718042	35436234	15	831											
CAMK4	814	broad.mit.edu	37	chr5	110819728	110819728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtttccaatcaggcagCggtgaaggctgtggtggcct	6	12	14	9	1	2	1	1	1	1	0	3	1	3	1	2	5	1	3	2	5	2	2			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr5:110819728C>T	ENST00000282356.4	+	11	1384	c.986C>T	c.(985-987)gCg>gTg	p.A329V	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A329V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	329	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A329E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AATCAGGCAGCGGTGAAGGCT	0.542																																					p.A329V													CAMK4,NS,carcinoma,0,1	CAMK4	77	1	1	Substitution - Missense(1)	ovary(1)	c.C986T												32	34	33					5																	110819728		2201	4295	6496	SO:0001583	missense	814	exon11			AGGCAGCGGTGAA	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.986C>T	5.37:g.110819728C>T	ENSP00000282356:p.Ala329Val		130	0	0		143	0.03	4	NM_001744	0		0	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267530	0.95399	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.70282	-0.47;-0.47	5.81	5.81	0.92471	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83473	0.0060	10	0.87932	D	0	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	329	Q16566	KCC4_HUMAN	V	329	ENSP00000422634:A329V;ENSP00000282356:A329V	ENSP00000282356:A329V	A	+	2	0	CAMK4	110847627	1.000000	0.71417	0.744000	0.31058	0.989000	0.77384	5.526000	0.67116	2.759000	0.94783	0.591000	0.81541	GCG			0.542	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250719.2		NM_001744		T	110819728	C	T	110819728	3	4	13	1	0	0	0	0	1	0	0	0	2607	768	27	1	1028	1	CAMK4	5	110819728	Missense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10		110819728	70095532	16	832											
TNXB	7148	mdanderson.org	37	chr6	32064279	32064279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagcccgcattgcaaaCacacacgccgttctcgcagc	9	7	9	16	4	1	0	0	0	1	0	2	0	1	0	2	0	4	6	2	0	2	3			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr6:32064279C>A	ENST00000479795.1	-	3	1491	c.1351G>T	c.(1351-1353)Gtt>Ttt	p.V451F	TNXB_ENST00000375247.2_Missense_Mutation_p.V451F|TNXB_ENST00000375244.3_Missense_Mutation_p.V451F			P22105	TENX_HUMAN	tenascin XB	451	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						GCATTGCAAACACACACGCCG	0.692																																					p.V451F													.	.			0			c.G1351T												11	12	12					6																	32064279		1979	4001	5980	SO:0001583	missense	7148	exon3			TGCAAACACACAC	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	ENST00000479795.1:c.1351G>T	6.37:g.32064279C>A	ENSP00000418248:p.Val451Phe		17	0	0		19	0.11	2	NM_019105	0		0	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37		.	.	.	.	.	.	.	.	.	.	C	15.46	2.839926	0.51057	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11495	2.77;2.77;2.77	4.26	3.39	0.38822	.	0.000000	0.38164	N	0.001787	T	0.15003	0.0362	M	0.85197	2.74	0.31698	N	0.641055	D	0.89917	1.0	D	0.85130	0.997	T	0.10543	-1.0625	10	0.13108	T	0.6	.	6.7542	0.23503	0.0:0.7813:0.0:0.2187	.	451	P22105-3	.	F	451	ENSP00000364393:V451F;ENSP00000364396:V451F;ENSP00000418248:V451F	ENSP00000364393:V451F	V	-	1	0	TNXB	32172257	0.000000	0.05858	0.987000	0.45799	0.561000	0.35649	0.091000	0.15046	0.769000	0.33313	0.313000	0.20887	GTT			0.692	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000357059.1		NM_019105		A	32064279	C	A	32064279	3	1	13	1	0	0	0	0	1	0	0	0	16369	478	17	3	13530	3	TNXB	6	32064279	Missense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10		32064279	139050788	17	833											
DAAM2	23500	mdanderson.org	37	chr6	39869697	39869697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacctggtgtcggccctgCgctctggggaggtcttcgac	4	10	15	12	3	2	1	0	1	2	0	4	3	2	2	2	5	1	1	2	5	0	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr6:39869697C>T	ENST00000398904.2	+	25	3273	c.3091C>T	c.(3091-3093)Cgc>Tgc	p.R1031C	RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.R1030C|DAAM2_ENST00000274867.4_Missense_Mutation_p.R1031C			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1031	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTCGGCCCTGCGCTCTGGGGA	0.642																																					p.R1031C													.	.			0			c.C3091T												37	46	43					6																	39869697		2104	4220	6324	SO:0001583	missense	23500	exon25			GCCCTGCGCTCTG	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.3091C>T	6.37:g.39869697C>T	ENSP00000381876:p.Arg1031Cys		44	0	0		47	0.06	3	NM_001201427	0		0	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835277	0.71373	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.83755	-1.67;-1.67;-1.76	5.63	5.63	0.86233	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	D	0.89556	0.3803	10	0.87932	D	0	.	14.1652	0.65473	0.1877:0.8123:0.0:0.0	.	1030;1031	G5EA45;Q86T65	.;DAAM2_HUMAN	C	1031;1031;1030	ENSP00000274867:R1031C;ENSP00000381876:R1031C;ENSP00000437808:R1030C	ENSP00000274867:R1031C	R	+	1	0	DAAM2	39977675	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	4.103000	0.57783	2.651000	0.90000	0.650000	0.86243	CGC			0.642	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000280648.1				T	39869697	C	T	39869697	3	4	13	1	0	0	0	0	1	0	0	0	4218	768	27	1	3182	1	DAAM2	6	39869697	Missense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10	7805418	39869697	131245370	18	834											
PMS2	5395	broad.mit.edu	37	chr7	6026444	6026444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattttctccaggacaaatcTttgccctaaacttcctgtaa	11	14	5	11	0	2	0	0	0	2	0	4	2	3	1	3	1	2	1	3	1	4	6	rs267608167		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr7:6026444T>C	ENST00000265849.7	-	11	2057	c.1952A>G	c.(1951-1953)aAg>aGg	p.K651R	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	651					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGGACAAATCTTTGCCCTAAA	0.328			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.K651R			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88		0			c.A1952G												89	86	87					7																	6026444		2203	4300	6503	SO:0001583	missense	5395	exon11	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	CAAATCTTTGCCC		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1952A>G	7.37:g.6026444T>C	ENSP00000265849:p.Lys651Arg		388	0.0025773196	1		503	0.01	5	NM_000535	15	0	0	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	13.77	2.335511	0.41398	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476	T;T	0.40225	1.04;1.04	5.82	0.829	0.18847	.	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.77103	2.36	0.47476	D	0.999431	B;B	0.33583	0.021;0.418	B;B	0.40982	0.019;0.345	T	0.30909	-0.9962	10	0.35671	T	0.21	-19.6292	9.5139	0.39093	0.0:0.2623:0.0:0.7377	rs63751461	651;545	P54278;C9J167	PMS2_HUMAN;.	R	651;604;545	ENSP00000265849:K651R;ENSP00000392843:K545R	ENSP00000265849:K651R	K	-	2	0	PMS2	5992970	1.000000	0.71417	0.842000	0.33263	0.835000	0.47333	2.986000	0.49370	-0.068000	0.12953	-0.369000	0.07265	AAG			0.328	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207353.3		NM_000535		C	6026444	T	C	6026444	3	2	13	1	0	0	0	0	1	0	0	0	12160	1609	56	4	656	4	PMS2	7	6026444	Missense_Mutation	SNP	T	TCGA-2G-AAFN-01A-31D-A42Y-10		6026444	153112219	19	835											
EZH2	2146	broad.mit.edu	37	chr7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatggaaagatgctaacccTttttcagctgtatctttctg	10	15	8	8	0	3	1	1	0	2	1	3	3	3	2	1	1	3	3	1	1	4	5			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr7:148512600T>C	ENST00000460911.1	-	13	1617	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	EZH2_ENST00000483967.1_Missense_Mutation_p.K501R|EZH2_ENST00000476773.1_Missense_Mutation_p.K501R|EZH2_ENST00000320356.2_Missense_Mutation_p.K515R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000478654.1_Missense_Mutation_p.K501R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	510	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL																																p.K515R				Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	EZH2	823		0			c.A1544G												150	144	146					7																	148512600		2203	4300	6503	SO:0001583	missense	0	exon13			TAACCCTTTTTCA		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1529A>G	7.37:g.148512600T>C	ENSP00000419711:p.Lys510Arg		315	0	0		394	0.02	6	NM_004456	87	0	0	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	t	27.5	4.839567	0.91117	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94687	-3.44;-3.49;-3.49;-3.48;-3.44;-3.44;-3.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	L	0.60455	1.87	0.80722	D	1	P;P;D;P;D	0.76494	0.635;0.799;0.992;0.635;0.999	B;P;P;B;D	0.80764	0.347;0.465;0.765;0.347;0.994	D	0.95704	0.8752	10	0.38643	T	0.18	.	15.542	0.76057	0.0:0.0:0.0:1.0	.	501;501;510;471;515	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	R	501;515;510;471;501;501;501	ENSP00000417062:K501R;ENSP00000320147:K515R;ENSP00000419711:K510R;ENSP00000223193:K471R;ENSP00000443219:K501R;ENSP00000419050:K501R;ENSP00000419856:K501R	ENSP00000320147:K515R	K	-	2	0	EZH2	148143533	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.351000	0.79395	2.064000	0.61679	0.533000	0.62120	AAG			0.368	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000352744.1		NM_004456		C	148512600	T	C	148512600	3	2	13	1	0	0	0	0	1	0	0	0	5341	1609	56	4	743	4	EZH2	7	148512600	Missense_Mutation	SNP	T	TCGA-2G-AAFN-01A-31D-A42Y-10	142486156	148512600	10626063	20	836											
GRHPR	9380	mdanderson.org	37	chr9	37428556	37428556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcactgtcggcatcatcggGctggggcgcataggtgaggc	7	7	17	10	3	1	1	1	1	0	0	3	1	1	1	0	6	1	4	0	6	1	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr9:37428556G>T	ENST00000318158.6	+	5	565	c.480G>T	c.(478-480)ggG>ggT	p.G160G	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Silent_p.G160G	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	160					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GCATCATCGGGCTGGGGCGCA	0.657																																					p.G160G													.	.			0			c.G480T												72	73	73					9																	37428556		2203	4300	6503	SO:0001819	synonymous_variant	9380	exon5			CATCGGGCTGGGG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.480G>T	9.37:g.37428556G>T			29	0	0		50	0.06	3	NM_012203	198	0.01	1	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Silent	SNP	ENST00000318158.6	37	CCDS6609.1																																																																																					0.657	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052442.1		NM_012203		T	37428556	G	T	37428556	2	4	13	1	0	0	0	0	0	0	0	1	6781	1190	42	2		2	GRHPR	9	37428556	Silent	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10		37428556	103784875	21	837											
BAT2L1	84726	broad.mit.edu	37	chr9	134305549	134305550	+	Missense_Mutation	DNP	GC	GC	AG																															gcaatgtccgatcgtttgggGcaaattaccaagggcaagga																										TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr9:134305549_134305550GC>AG	ENST00000357304.4	+	1	73_74	c.18_19GC>AG	c.(16-21)ggGCaa>ggAGaa	p.Q7E	PRRC2B_ENST00000458550.1_Missense_Mutation_p.Q7E|PRRC2B_ENST00000405995.1_Missense_Mutation_p.Q7E	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	7							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						ATCGTTTGGGGCAAATTACCAA	0.411																																					p.Q7E													.	PRRC2B	266		0			c.C19G																																									SO:0001583	missense	84726	exon1			TTTGGGGCAAATT	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	Exception_encountered	9.37:g.134305549_134305550delinsAG	ENSP00000349856:p.Gln7Glu		140	0	0		217	0.03	6	NM_013318	4	0	0	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	DNP	ENST00000357304.4	37	CCDS48044.1																																																																																					0.411	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding						AG	134305550	GC	AG	134305549	3	1	13	1	0	0	0	0	1	0	0	0	1320	1190	42	2	20	2	BAT2L1	9	134305549	Missense_Mutation	DNP	GC	TCGA-2G-AAFN-01A-31D-A42Y-10	96876993	134305549	6907882	22	838											
FANK1	92565	mdanderson.org	37	chr10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccgaccatggagcccCagagtaagggaggcccgggc	10	2	16	13	2	0	1	0	0	0	1	0	4	0	3	5	4	3	2	5	4	1	1	rs202109621		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X													.	.			0			c.C10T												8	12	11					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*		36	0.0555555556	2		30	0.13	4	NM_145235	2	0	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG			0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_145235		T	127585221	C	T	127585221	4	4	13	1	0	0	0	0	0	1	0	0	5685	595	21	3	12	3	FANK1	10	127585221	Nonsense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10		127585221	7949526	23	839											
TNNI2	7136	mdanderson.org	37	chr11	1862339	1862339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggagggtgcgcatgtcgGccgatgccatgctcaaggcc	6	7	16	12	4	1	0	1	0	0	0	2	2	1	1	3	4	4	2	3	4	1	0			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr11:1862339G>T	ENST00000381906.1	+	7	424	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	TNNI2_ENST00000381905.3_Missense_Mutation_p.A119S|TNNI2_ENST00000381911.1_Missense_Mutation_p.A119S|TNNI2_ENST00000252898.7_Missense_Mutation_p.A119S	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	119					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCGCATGTCGGCCGATGCCAT	0.617																																					p.A119S													.	.			0			c.G355T												48	43	45					11																	1862339		2201	4299	6500	SO:0001583	missense	7136	exon5			ATGTCGGCCGATG	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"troponin I, fast-twitch skeletal muscle isoform", "troponin I fast twitch 2"	191043	"troponin I, skeletal, fast", "arthrogryposis multiplex congenita, distal, type 2B"	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.355G>T	11.37:g.1862339G>T	ENSP00000371331:p.Ala119Ser		91	0	0		29	0.1	3	NM_001145841	4	0	0	A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	37	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	g	14.98	2.698470	0.48307	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	3.19	3.19	0.36642	.	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	M	0.90870	3.155	0.49582	D	0.9998	D;D	0.63046	0.992;0.96	D;D	0.83275	0.996;0.947	D	0.98583	1.0651	10	0.87932	D	0	-1.9453	15.6252	0.76851	0.0:0.0:1.0:0.0	.	119;119	A6NIV8;P48788	.;TNNI2_HUMAN	S	119	ENSP00000371336:A119S;ENSP00000371331:A119S;ENSP00000252898:A119S;ENSP00000371330:A119S	ENSP00000252898:A119S	A	+	1	0	TNNI2	1818915	1.000000	0.71417	0.207000	0.23584	0.148000	0.21650	5.762000	0.68809	2.090000	0.63153	0.313000	0.20887	GCC			0.617	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000034046.2		NM_003282		T	1862339	G	T	1862339	3	4	13	1	0	0	0	0	1	0	0	0	16350	1203	42	2	392	2	TNNI2	11	1862339	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10		1862339	133144177	24	840											
NLRP14	338323	broad.mit.edu	37	chr11	7081206	7081206	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaagagcctgacgcatctGgatctaggatcaaactggct	13	8	10	10	1	3	2	1	1	2	1	3	4	3	4	1	3	3	2	1	3	4	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr11:7081206G>T	ENST00000299481.4	+	9	3061	c.2715G>T	c.(2713-2715)ctG>ctT	p.L905L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	905					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)		TGACGCATCTGGATCTAGGAT	0.453																																					p.L905L													.	NLRP14	187		0			c.G2715T												188	175	179					11																	7081206		2201	4296	6497	SO:0001819	synonymous_variant	338323	exon9			GCATCTGGATCTA	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.2715G>T	11.37:g.7081206G>T			231	0	0		214	0.02	5	NM_176822	0		0	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																					0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384551.1		NM_176822		T	7081206	G	T	7081206	2	4	13	1	0	0	0	0	0	0	0	1	10493	1335	47	3		3	NLRP14	11	7081206	Silent	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	5218867	7081206	127925310	25	841											
KCNK7	10089	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	65363219	65363219	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaaccaggagcccgtatcGggaccagggccttagacccc	10	4	11	16	2	0	1	0	0	0	1	1	3	0	3	6	3	2	1	6	3	3	2	rs540550781		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr11:65363219G>A	ENST00000340313.4	-	1	248	c.25C>T	c.(25-27)Cga>Tga	p.R9*	KCNK7_ENST00000394216.2_Nonsense_Mutation_p.R9*|KCNK7_ENST00000394217.2_Nonsense_Mutation_p.R9*|KCNK7_ENST00000342202.4_Nonsense_Mutation_p.R9*	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	9					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						AGCCCGTATCGGGACCAGGGC	0.706																																					p.R9X													.	.			0			c.C25T												8	11	10					11																	65363219		2166	4272	6438	SO:0001587	stop_gained	10089	exon1			CGTATCGGGACCA	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.25C>T	11.37:g.65363219G>A	ENSP00000344820:p.Arg9*		111	0	0		102	0.06	6	NM_005714	0		0	Q3SYI2|Q9Y2U3|Q9Y2U4	Nonsense_Mutation	SNP	ENST00000340313.4	37	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091148	0.76756	.	.	ENSG00000173338	ENST00000342202;ENST00000394217;ENST00000394216;ENST00000340313	.	.	.	5.0	2.04	0.26737	.	0.350657	0.20409	N	0.092892	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3572	0.11185	0.2557:0.0:0.5859:0.1584	.	.	.	.	X	9	.	ENSP00000344820:R9X	R	-	1	2	KCNK7	65119795	0.407000	0.25352	0.950000	0.38849	0.162000	0.22319	0.193000	0.17116	0.519000	0.28406	-0.123000	0.14984	CGA			0.706	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390206.1		NM_005714		A	65363219	G	A	65363219	4	1	13	1	0	0	0	0	0	1	0	0	8086	1124	39	1	1011	1	KCNK7	11	65363219	Nonsense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	58282013	65363219	69643297	26	842											
MARS	4141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	57883073	57883073	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttgttatctggctGggagcaagatgacctcacta	8	17	9	7	0	2	2	1	1	1	1	2	3	2	3	1	2	1	3	1	2	3	6			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr12:57883073G>A	ENST00000262027.5	+	3	358	c.224G>A	c.(223-225)tGg>tAg	p.W75*	ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000393797.2_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	75	GST C-terminal.				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)	TTATCTGGCTGGGAGCAAGAT	0.502																																					p.W75X													.	.			0			c.G224A												106	107	107					12																	57883073		2203	4300	6503	SO:0001587	stop_gained	4141	exon3			CTGGCTGGGAGCA	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.224G>A	12.37:g.57883073G>A	ENSP00000262027:p.Trp75*		114	0	0		125	0.19	24	NM_004990	25	0.12	3	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Nonsense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091180	0.55968	.	.	ENSG00000166986	ENST00000262027	.	.	.	4.61	4.61	0.57282	.	0.207159	0.43416	D	0.000566	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.8979	9.3572	0.38173	0.1002:0.0:0.8998:0.0	.	.	.	.	X	75	.	ENSP00000262027:W75X	W	+	2	0	MARS	56169340	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.999000	0.49473	2.492000	0.84095	0.655000	0.94253	TGG			0.502	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407014.1		NM_004990		A	57883073	G	A	57883073	4	1	13	1	0	0	0	0	0	1	0	0	9332	1357	47	3	234	3	MARS	12	57883073	Nonsense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10		57883073	75968822	27	843											
SFRS8	6433	mdanderson.org	37	chr12	132241113	132241113	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagacgcagccgaggtGggagcacgggcaggctcagg	9	3	18	11	3	1	2	1	1	0	1	1	4	1	3	2	5	2	4	2	5	1	0			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr12:132241113G>T	ENST00000261674.4	+	11	1785	c.1644G>T	c.(1642-1644)gtG>gtT	p.V548V	RP11-495K9.5_ENST00000537032.1_lincRNA|SFSWAP_ENST00000541286.1_Silent_p.V548V	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	548					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CAGCCGAGGTGGGAGCACGGG	0.622																																					p.V548V													.	.			0			c.G1644T												75	63	67					12																	132241113		2203	4300	6503	SO:0001819	synonymous_variant	6433	exon11			CGAGGTGGGAGCA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1644G>T	12.37:g.132241113G>T			56	0	0		87	0.05	4	NM_001261411	63	0	0	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	5.757	0.324153	0.10900	.	.	ENSG00000061936	ENST00000537164	.	.	.	5.34	-8.83	0.00806	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.33369	-0.9871	4	.	.	.	-0.2562	11.3217	0.49426	0.7086:0.0:0.1965:0.0949	.	.	.	.	L	188	.	.	W	+	2	0	SFSWAP	130807066	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.424000	0.01029	-1.971000	0.01002	-0.258000	0.10820	TGG			0.622	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399276.1		NM_004592		T	132241113	G	T	132241113	2	4	13	1	0	0	0	0	0	0	0	1	14206	1335	47	3		3	SFRS8	12	132241113	Silent	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	74358040	132241113	1610782	28	844											
RASA3	22821	mdanderson.org	37	chr13	114778651	114778651	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgagctggaagaggttgggGgagagaatggcgggcgcaaa	11	5	21	4	2	0	3	0	1	0	2	0	6	0	5	0	6	1	3	0	6	3	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr13:114778651G>T	ENST00000334062.7	-	15	1600	c.1479C>A	c.(1477-1479)tcC>tcA	p.S493S	RASA3_ENST00000389544.4_Silent_p.S461S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	493	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGAGGTTGGGGGAGAGAATGG	0.632																																					p.S493S													RASA3,colon,carcinoma,-1,1	RASA3	-1	1	0			c.C1479A												101	77	85					13																	114778651		2203	4299	6502	SO:0001819	synonymous_variant	22821	exon15			GTTGGGGGAGAGA		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1479C>A	13.37:g.114778651G>T			74	0	0		40	0.08	3	NM_007368	2	0	0	A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	CCDS32016.1																																																																																					0.632	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045957.2		NM_007368		T	114778651	G	T	114778651	2	4	13	1	0	0	0	0	0	0	0	1	13085	1219	43	3		3	RASA3	13	114778651	Silent	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10		114778651	391227	29	845											
C14orf4	64207	mdanderson.org	37	chr14	77493764	77493764	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggttgagctgttgttgCtgctgctgctgctgctgctg	2	15	15	9	1	0	1	0	1	0	0	0	1	0	1	0	1	8	11	0	1	0	3	rs553703325|rs556445214|rs200317113	byFrequency	TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr14:77493764C>T	ENST00000238647.3	-	1	1270	c.372G>A	c.(370-372)caG>caA	p.Q124Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	124	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgttgttgctgctgctgct	0.706													c|||	11	0.00219649	0.0023	0	5008	,	,		6806	0.005		0	False		,,,				2504	0.0031				p.Q124Q													.	.			0			c.G372A												2	2	2					14																	77493764		1368	2499	3867	SO:0001819	synonymous_variant	64207	exon1			TTGTTGCTGCTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.372G>A	14.37:g.77493764C>T			27	0	0		19	0.21	4	NM_024496	1	0	0	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																					0.706	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414298.1		NM_024496		T	77493764	C	T	77493764	2	4	13	1	0	0	0	0	0	0	0	1	1775	796	28	2		2	C14orf4	14	77493764	Silent	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10		77493764	29855776	30	846											
GTF2A1	2957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	81670290	81670290	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggtctgcgcttgctgAggtactgtctgctgaggctg	3	13	16	9	1	2	2	0	2	2	0	2	2	2	2	0	3	5	6	0	3	1	2			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr14:81670290A>T	ENST00000553612.1	-	3	694	c.291T>A	c.(289-291)ccT>ccA	p.P97P	GTF2A1_ENST00000434192.2_Silent_p.P58P|SNORA79_ENST00000408376.1_RNA	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	97					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GCGCTTGCTGAGGTACTGTct	0.483																																					p.P97P													.	.			0			c.T291A												140	101	114					14																	81670290		2203	4300	6503	SO:0001819	synonymous_variant	2957	exon3			TTGCTGAGGTACT	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.291T>A	14.37:g.81670290A>T			111	0	0		93	0.33	31	NM_015859	0		0	Q3KNQ9	Silent	SNP	ENST00000553612.1	37	CCDS9873.1																																																																																					0.483	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413309.1		NM_015859		T	81670290	A	T	81670290	2	4	13	1	0	0	0	0	0	0	0	1	6867	291	11	5		5	GTF2A1	14	81670290	Silent	SNP	A	TCGA-2G-AAFN-01A-31D-A42Y-10	4176526	81670290	25679250	31	847											
SPESP1	246777	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	69238736	69238736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagttattgccagtaggacGaacaagtaataaaattgatg	16	10	9	6	1	0	1	0	1	0	0	0	3	0	2	2	1	2	3	2	1	7	6	rs142183563		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr15:69238736G>A	ENST00000310673.3	+	2	1017	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	288					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGTAGGACGAACAAGTAAT	0.343																																					p.R288Q													.	.			0			c.G863A												53	56	55					15																	69238736		2200	4297	6497	SO:0001583	missense	246777	exon2			TAGGACGAACAAG	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.863G>A	15.37:g.69238736G>A	ENSP00000312284:p.Arg288Gln		165	0	0		170	0.08	14	NM_145658	8	0	0	Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	4.990	0.183818	0.09495	.	.	ENSG00000258484	ENST00000310673	T	0.24908	1.83	5.33	-10.7	0.00240	.	2.276280	0.02067	N	0.051277	T	0.11879	0.0289	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09530	-1.0670	10	0.21540	T	0.41	1.1737	9.2685	0.37657	0.1351:0.0805:0.6251:0.1593	.	288	Q6UW49	SPESP_HUMAN	Q	288	ENSP00000312284:R288Q	ENSP00000312284:R288Q	R	+	2	0	SPESP1	67025790	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.930000	0.00689	-3.290000	0.00195	-0.937000	0.02696	CGA			0.343	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257125.1		NM_145658		A	69238736	G	A	69238736	3	1	13	1	0	0	0	0	1	0	0	0	15063	1058	37	1	869	1	SPESP1	15	69238736	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10		69238736	33292656	32	848											
CYP1A1	1543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr15	75015057	75015057	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcagcccacactggtcCagagtctgggctgaaggaca	9	5	15	12	1	1	2	0	1	1	1	2	3	2	3	2	4	1	2	2	4	1	0			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr15:75015057C>A	ENST00000379727.3	-	2	580	c.382G>T	c.(382-384)Gga>Tga	p.G128*	CYP1A1_ENST00000567032.1_Nonsense_Mutation_p.G128*|CYP1A1_ENST00000395049.4_Nonsense_Mutation_p.G128*|CYP1A1_ENST00000395048.2_Nonsense_Mutation_p.G128*|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	128					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CACACTGGTCCAGAGTCTGGG	0.612									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.G128X													.	.			0			c.G382T												49	53	52					15																	75015057		2194	4295	6489	SO:0001587	stop_gained	1543	exon2	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	CTGGTCCAGAGTC	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.382G>T	15.37:g.75015057C>A	ENSP00000369050:p.Gly128*		88	0	0		99	0.26	26	NM_000499	0		0	A4F3V9|A4F3W0|Q53G18	Nonsense_Mutation	SNP	ENST00000379727.3	37	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	37	6.117687	0.97300	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	.	.	.	5.23	5.23	0.72850	.	0.099961	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8027	0.92025	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000268062:G128X	G	-	1	0	CYP1A1	72802110	0.979000	0.34478	0.665000	0.29768	0.774000	0.43823	4.773000	0.62331	2.432000	0.82394	0.462000	0.41574	GGA			0.612	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286396.1		NM_000499		A	75015057	C	A	75015057	4	1	13	1	0	0	0	0	0	1	0	0	4151	603	21	3	1180	3	CYP1A1	15	75015057	Nonsense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10	5776321	75015057	27516335	33	849											
METTL9	51108	mdanderson.org	37	chr16	21611083	21611083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgggctggctgtgccTgagcctggcgtccgtgtggc	1	9	19	12	3	0	1	0	1	0	0	1	1	1	1	3	5	2	3	3	5	0	0			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:21611083T>C	ENST00000358154.3	+	1	287	c.29T>C	c.(28-30)cTg>cCg	p.L10P	METTL9_ENST00000396014.4_Missense_Mutation_p.L10P	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	10										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		TGGCTGTGCCTGAGCCTGGCG	0.756																																					p.L10P													.	.			0			c.T29C												5	7	6					16																	21611083		1787	3705	5492	SO:0001583	missense	51108	exon1			TGTGCCTGAGCCT	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.29T>C	16.37:g.21611083T>C	ENSP00000350874:p.Leu10Pro		17	0	0		12	0.17	2	NM_016025	37	0	0	Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776833	0.49786	.	.	ENSG00000197006	ENST00000358154;ENST00000396014	.	.	.	3.98	1.65	0.23941	.	0.620020	0.13923	U	0.353444	T	0.26882	0.0658	N	0.08118	0	0.48632	D	0.999687	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.05402	-1.0887	9	0.27785	T	0.31	-2.9106	5.1697	0.15103	0.0:0.2549:0.0:0.7451	.	10;10	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	P	10	.	ENSP00000350874:L10P	L	+	2	0	METTL9	21518584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.569000	0.36428	0.502000	0.28037	0.391000	0.25812	CTG			0.756	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254465.1		NM_016025		C	21611083	T	C	21611083	3	2	13	1	0	0	0	0	1	0	0	0	9524	1580	55	4	31	4	METTL9	16	21611083	Missense_Mutation	SNP	T	TCGA-2G-AAFN-01A-31D-A42Y-10		21611083	68743670	34	850											
MVP	9961	ucsc.edu;bcgsc.ca	37	chr16	29853393	29853393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtcatcaccatcgaaacgGcggatcatgccaggctgcaa	12	6	10	13	4	3	0	3	0	0	0	4	2	3	1	2	3	3	2	2	3	2	0			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:29853393G>T	ENST00000357402.5	+	10	1732	c.1594G>T	c.(1594-1596)Gcg>Tcg	p.A532S	MVP_ENST00000395353.1_Missense_Mutation_p.A532S	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	532					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CATCGAAACGGCGGATCATGC	0.622																																					p.A532S													.	MVP	80		0			c.G1594T												25	24	25					16																	29853393		2197	4300	6497	SO:0001583	missense	9961	exon10			GAAACGGCGGATC	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1594G>T	16.37:g.29853393G>T	ENSP00000349977:p.Ala532Ser		26	0	0		31	0.13	4	NM_017458	58	0	0	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736024	0.49045	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.41400	1.0;1.0	5.7	4.74	0.60224	Shoulder domain (1);	0.049070	0.85682	D	0.000000	T	0.42720	0.1215	L	0.37507	1.11	0.80722	D	1	D	0.58970	0.984	P	0.55222	0.771	T	0.19386	-1.0307	10	0.09843	T	0.71	-3.0719	12.6296	0.56649	0.0804:0.0:0.9196:0.0	.	532	Q14764	MVP_HUMAN	S	532	ENSP00000349977:A532S;ENSP00000378760:A532S	ENSP00000349977:A532S	A	+	1	0	MVP	29760894	1.000000	0.71417	0.077000	0.20336	0.545000	0.35147	8.356000	0.90085	1.398000	0.46701	0.650000	0.86243	GCG			0.622	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109711.3		NM_005115		T	29853393	G	T	29853393	3	4	13	1	0	0	0	0	1	0	0	0	10012	1203	42	2	1628	2	MVP	16	29853393	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	8242310	29853393	60501360	35	851											
PRSS36	146547	mdanderson.org	37	chr16	31154157	31154157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccgcgctcaggttcaCgggcgtgcgcagctgcagca	7	5	15	14	6	2	0	2	0	0	0	2	1	2	0	1	2	5	6	1	2	1	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:31154157C>A	ENST00000268281.4	-	9	1316	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L	PRSS36_ENST00000418068.2_Missense_Mutation_p.V420L|PRSS36_ENST00000569305.1_Missense_Mutation_p.V420L	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	420	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTCAGGTTCACGGGCGTGCGC	0.761																																					p.V420L													.	.			0			c.G1258T												7	9	8					16																	31154157		2111	4188	6299	SO:0001583	missense	146547	exon9			GGTTCACGGGCGT	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1258G>T	16.37:g.31154157C>A	ENSP00000268281:p.Val420Leu		34	0	0		41	0.07	3	NM_001258290	0		0	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608509	0.66558	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	T;T	0.33438	1.41;1.41	4.67	3.64	0.41730	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.25901	0.0631	L	0.41906	1.305	0.29018	N	0.886468	B;P;P	0.36587	0.215;0.559;0.559	B;B;B	0.39738	0.167;0.308;0.308	T	0.08576	-1.0715	9	0.37606	T	0.19	.	7.0026	0.24817	0.0:0.7223:0.1777:0.1	.	420;420;420	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	L	420	ENSP00000268281:V420L;ENSP00000407160:V420L	ENSP00000268281:V420L	V	-	1	0	PRSS36	31061658	0.929000	0.31497	1.000000	0.80357	0.976000	0.68499	1.232000	0.32636	2.285000	0.76669	0.585000	0.79938	GTG			0.761	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000433542.1		NM_173502		A	31154157	C	A	31154157	3	1	13	1	0	0	0	0	1	0	0	0	12645	536	19	1	1337	1	PRSS36	16	31154157	Missense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10	1300764	31154157	59200596	36	852											
SNX20	124460	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	50707354	50707354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacagtgagctccttcaggGtgatgcctcggggcgtgggc	5	8	17	11	2	1	2	1	2	0	0	3	2	2	2	2	4	2	2	2	4	0	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:50707354G>T	ENST00000330943.4	-	4	1085	c.914C>A	c.(913-915)aCc>aAc	p.T305N	RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	305					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						CTCCTTCAGGGTGATGCCTCG	0.662																																					p.T305N													.	SNX20	50		0			c.C914A												53	58	57					16																	50707354		2198	4300	6498	SO:0001583	missense	124460	exon4			TTCAGGGTGATGC	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.914C>A	16.37:g.50707354G>T	ENSP00000332062:p.Thr305Asn		71	0.014084507	1		74	0.23	17	NM_182854	1	0	0	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223768	0.39300	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.36157	1.27	5.67	4.72	0.59763	.	0.380132	0.29486	N	0.012002	T	0.33411	0.0862	L	0.53249	1.67	0.35534	D	0.802494	P	0.50272	0.933	B	0.39706	0.307	T	0.50931	-0.8769	10	0.48119	T	0.1	-32.8328	12.6826	0.56930	0.0758:0.0:0.9242:0.0	.	305	Q7Z614	SNX20_HUMAN	N	305;141	ENSP00000332062:T305N	ENSP00000332062:T305N	T	-	2	0	SNX20	49264855	1.000000	0.71417	0.978000	0.43139	0.183000	0.23260	6.063000	0.71162	1.403000	0.46800	0.561000	0.74099	ACC			0.662	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256879.2		NM_153337		T	50707354	G	T	50707354	3	4	13	1	0	0	0	0	1	0	0	0	14915	1261	44	3	183	3	SNX20	16	50707354	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	19553197	50707354	39647399	37	853											
COG8	84342	mdanderson.org	37	chr16	69364875	69364875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagctcgggccccagcGcctggtcatccagggtgaaa	7	7	14	13	2	1	2	1	2	0	0	3	2	2	2	4	3	2	1	4	3	1	0			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:69364875G>T	ENST00000306875.4	-	5	1820	c.1706C>A	c.(1705-1707)gCg>gAg	p.A569E	COG8_ENST00000564419.1_5'Flank|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	569					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGGCCCCAGCGCCTGGTCATC	0.667																																					p.A569E													.	.			0			c.C1706A												23	21	21					16																	69364875		2193	4297	6490	SO:0001583	missense	84342	exon5			CCCAGCGCCTGGT	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.1706C>A	16.37:g.69364875G>T	ENSP00000305459:p.Ala569Glu		91	0	0		93	0.05	5	NM_032382	18	0	0	Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	-	11.58	1.682539	0.29872	.	.	ENSG00000213380	ENST00000306875	T	0.38240	1.15	5.45	1.4	0.22301	.	0.545684	0.19097	N	0.122807	T	0.05960	0.0155	N	0.00197	-1.87	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33599	-0.9862	10	0.02654	T	1	-5.9791	3.6721	0.08277	0.1274:0.0832:0.1402:0.6492	.	569	Q96MW5	COG8_HUMAN	E	569	ENSP00000305459:A569E	ENSP00000305459:A569E	A	-	2	0	COG8	67922376	0.938000	0.31826	0.654000	0.29608	0.020000	0.10135	0.597000	0.24059	0.355000	0.24131	-0.531000	0.04308	GCG			0.667	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268948.2		NM_032382		T	69364875	G	T	69364875	3	4	13	1	0	0	0	0	1	0	0	0	3666	1087	38	1	136	1	COG8	16	69364875	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	18657521	69364875	20989878	38	854											
TNK1	8711	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	7290430	7290430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgtccagtccacagaGgcacccctgcccggggagat	8	4	11	18	2	0	2	0	0	0	2	2	3	2	2	7	3	1	1	7	3	0	0			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr17:7290430G>T	ENST00000576812.1	+	9	1738	c.1369G>T	c.(1369-1371)Ggc>Tgc	p.G457C	TNK1_ENST00000570896.1_Missense_Mutation_p.G452C|TNK1_ENST00000311668.2_Missense_Mutation_p.G452C	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				AGTCCACAGAGGCACCCCTGC	0.642																																					p.G457C													.	.			0			c.G1369T												25	26	26					17																	7290430		1916	4130	6046	SO:0001583	missense	8711	exon9			CACAGAGGCACCC	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1369G>T	17.37:g.7290430G>T	ENSP00000459799:p.Gly457Cys		142	0	0		124	0.06	7	NM_001251902	6	0	0		Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283665	0.80803	.	.	ENSG00000174292	ENST00000311668	T	0.76709	-1.04	4.96	2.96	0.34315	.	0.289830	0.25065	N	0.033403	T	0.60676	0.2287	N	0.08118	0	0.31359	N	0.681596	P;P	0.48407	0.91;0.855	P;B	0.46758	0.526;0.326	T	0.65047	-0.6263	10	0.54805	T	0.06	.	6.5547	0.22454	0.2092:0.0:0.7908:0.0	.	452;457	Q13470-2;Q13470	.;TNK1_HUMAN	C	452	ENSP00000312309:G452C	ENSP00000312309:G452C	G	+	1	0	TNK1	7231154	0.272000	0.24172	0.994000	0.49952	0.689000	0.40095	0.663000	0.25053	1.407000	0.46875	0.313000	0.20887	GGC			0.642	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000440832.2		NM_003985		T	7290430	G	T	7290430	3	4	13	1	0	0	0	0	1	0	0	0	16340	1000	35	3	1384	3	TNK1	17	7290430	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10		7290430	73904780	39	855											
MBD1	4152	mdanderson.org	37	chr18	47806263	47806263	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccagtacctctggtaatAggtgtctgagcgtccacagg	9	9	11	12	1	2	1	0	1	2	0	3	1	3	1	3	3	2	2	3	3	3	3			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr18:47806263A>G	ENST00000591416.1	-	2	531	c.100T>C	c.(100-102)Tat>Cat	p.Y34H	MBD1_ENST00000436910.1_Missense_Mutation_p.Y34H|MBD1_ENST00000591535.1_Missense_Mutation_p.Y34H|MBD1_ENST00000588937.1_Missense_Mutation_p.Y34H|MBD1_ENST00000398493.1_Missense_Mutation_p.Y34H|MBD1_ENST00000457839.2_Missense_Mutation_p.Y34H|MBD1_ENST00000269471.5_Missense_Mutation_p.Y34H|MBD1_ENST00000424334.2_Missense_Mutation_p.Y60H|MBD1_ENST00000269468.5_Missense_Mutation_p.Y34H|MBD1_ENST00000349085.2_Missense_Mutation_p.Y34H|MBD1_ENST00000590208.1_Missense_Mutation_p.Y34H|MBD1_ENST00000347968.3_Missense_Mutation_p.Y34H|MBD1_ENST00000585595.1_Missense_Mutation_p.Y34H|MBD1_ENST00000585672.1_Missense_Mutation_p.Y34H|MBD1_ENST00000398488.1_Missense_Mutation_p.Y34H|MBD1_ENST00000587605.1_Missense_Mutation_p.Y34H|MBD1_ENST00000398495.2_Missense_Mutation_p.Y34H|MBD1_ENST00000339998.6_Missense_Mutation_p.Y34H|MBD1_ENST00000353909.3_Missense_Mutation_p.Y34H|MBD1_ENST00000382948.5_Missense_Mutation_p.Y34H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	34	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				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						CTCTGGTAATAGGTGTCTGAG	0.562																																					p.Y34H													.	.			0			c.T100C												53	51	52					18																	47806263		2203	4300	6503	SO:0001583	missense	4152	exon2			GGTAATAGGTGTC	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.100T>C	18.37:g.47806263A>G	ENSP00000467017:p.Tyr34His		36	0	0		35	0.09	3	NM_015845	2	0	0	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172719	0.78452	.	.	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	0.99436	-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9	4.35	4.35	0.52113	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.46145	D	0.000315	D	0.99504	0.9823	M	0.88241	2.94	0.44508	D	0.99745	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;0.999;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;1.0;0.999;0.998;0.998;0.997;1.0;0.999;1.0	D	0.98448	1.0590	10	0.87932	D	0	-9.5831	11.8086	0.52169	1.0:0.0:0.0:0.0	.	34;60;34;34;34;34;34;34;34;34;34	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	H	34;34;34;34;34;34;34;60;34;34;34;34;34	ENSP00000372407:Y34H;ENSP00000269469:Y34H;ENSP00000342531:Y34H;ENSP00000269468:Y34H;ENSP00000285102:Y34H;ENSP00000409561:Y34H;ENSP00000269471:Y34H;ENSP00000408846:Y60H;ENSP00000339546:Y34H;ENSP00000381508:Y34H;ENSP00000405268:Y34H;ENSP00000381506:Y34H;ENSP00000381502:Y34H	ENSP00000269468:Y34H	Y	-	1	0	MBD1	46060261	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.954000	0.76001	1.741000	0.51731	0.383000	0.25322	TAT			0.562	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255926.3		NM_015846		G	47806263	A	G	47806263	3	3	13	1	0	0	0	0	1	0	0	0	9358	420	15	4	1971	4	MBD1	18	47806263	Missense_Mutation	SNP	A	TCGA-2G-AAFN-01A-31D-A42Y-10		47806263	30270985	40	856											
ZNF236	7776	mdanderson.org	37	chr18	74580818	74580818	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagactcattacaaaattAggtatgagtcattacatggg	15	12	9	5	0	2	3	2	2	0	1	2	3	2	3	0	2	2	1	0	2	7	4			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr18:74580818A>G	ENST00000253159.8	+	4	733	c.535A>G	c.(535-537)Agg>Ggg	p.R179G	ZNF236_ENST00000320610.9_Splice_Site_p.R181G|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	179					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)		TTACAAAATTAGGTATGAGTC	0.478																																					p.R179G													.	.			0			c.A535G												57	58	58					18																	74580818		1910	4133	6043	SO:0001630	splice_region_variant	7776	exon4			AAAATTAGGTATG	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.536+1A>G	18.37:g.74580818A>G			28	0	0		18	0.11	2	NM_007345	0		0	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605409	0.87157	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12672	2.66;2.82	5.27	5.27	0.74061	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.983;0.993	P;D	0.72338	0.818;0.977	T	0.03717	-1.1010	10	0.72032	D	0.01	.	15.198	0.73108	1.0:0.0:0.0:0.0	.	179;179	Q9NWI2;Q9UL36	.;ZN236_HUMAN	G	179	ENSP00000253159:R179G;ENSP00000444524:R179G	ENSP00000253159:R179G	R	+	1	2	ZNF236	72709806	1.000000	0.71417	0.847000	0.33407	0.929000	0.56500	8.989000	0.93506	1.985000	0.57927	0.460000	0.39030	AGG			0.478	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000445776.1			Missense_Mutation	G	74580818	A	G	74580818	5	3	13	1	0	0	0	0	0	0	1	0	17812	434	15	4	549	4	ZNF236	18	74580818	Splice_Site	SNP	A	TCGA-2G-AAFN-01A-31D-A42Y-10	26774555	74580818	3496430	41	857											
ATP9B	374868	mdanderson.org	37	chr18	76870489	76870489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatcaaaaatacaatgtgtTtacctttatacctggggtaa	16	13	6	6	0	1	0	1	0	0	0	1	0	1	0	2	2	3	2	2	2	9	7			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr18:76870489T>C	ENST00000426216.2	+	3	445	c.428T>C	c.(427-429)tTt>tCt	p.F143S	ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000586722.1_Missense_Mutation_p.F143S|ATP9B_ENST00000307671.7_Missense_Mutation_p.F143S|ATP9B_ENST00000458297.2_Missense_Mutation_p.F91S	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	143					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)		TACAATGTGTTTACCTTTATA	0.408																																					p.F143S													.	.			0			c.T428C												55	61	59					18																	76870489		2199	4300	6499	SO:0001583	missense	374868	exon3			ATGTGTTTACCTT	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.428T>C	18.37:g.76870489T>C	ENSP00000398076:p.Phe143Ser		70	0	0		46	0.07	3	NM_198531	2	0	0	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369739	0.61624	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671;ENST00000458297	T;T;T	0.76578	-1.03;-1.03;-1.03	5.52	5.52	0.82312	.	0.096334	0.64402	D	0.000001	T	0.80644	0.4662	M	0.73372	2.23	0.80722	D	1	B;B;B	0.31752	0.06;0.1;0.338	B;B;B	0.38755	0.022;0.115;0.281	T	0.81805	-0.0764	10	0.87932	D	0	.	15.6361	0.76953	0.0:0.0:0.0:1.0	.	143;143;143	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	S	66;143;143;91	ENSP00000398076:F143S;ENSP00000304500:F143S;ENSP00000442794:F91S	ENSP00000304500:F143S	F	+	2	0	ATP9B	74971477	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	7.538000	0.82048	2.101000	0.63845	0.459000	0.35465	TTT			0.408	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256402.3		NM_198531		C	76870489	T	C	76870489	3	2	13	1	0	0	0	0	1	0	0	0	1199	1841	64	4	438	4	ATP9B	18	76870489	Missense_Mutation	SNP	T	TCGA-2G-AAFN-01A-31D-A42Y-10	2289671	76870489	1206759	42	858											
GRIN3B	116444	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	1004822	1004822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagacgggcagtgcccagCggggcagctgtgcctggacc	7	4	17	13	3	0	1	0	0	0	1	0	3	0	2	3	4	4	3	3	4	1	0			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:1004822C>T	ENST00000234389.3	+	3	1341	c.1322C>T	c.(1321-1323)gCg>gTg	p.A441V	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	441					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGTGCCCAGCGGGGCAGCTG	0.672																																					p.A441V													.	.			0			c.C1322T												48	49	48					19																	1004822		2203	4297	6500	SO:0001583	missense	116444	exon3			GCCCAGCGGGGCA		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1322C>T	19.37:g.1004822C>T	ENSP00000234389:p.Ala441Val		77	0	0		84	0.05	4	NM_138690	0		0	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182484	0.57800	.	.	ENSG00000116032	ENST00000234389	T	0.12774	2.65	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	M	0.78637	2.42	0.53688	D	0.999973	D	0.89917	1.0	D	0.72625	0.978	T	0.24297	-1.0164	10	0.48119	T	0.1	.	16.0539	0.80782	0.0:1.0:0.0:0.0	.	441	O60391	NMD3B_HUMAN	V	441	ENSP00000234389:A441V	ENSP00000234389:A441V	A	+	2	0	GRIN3B	955822	1.000000	0.71417	0.041000	0.18516	0.144000	0.21451	4.406000	0.59748	2.146000	0.66826	0.485000	0.47835	GCG			0.672	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103923.2				T	1004822	C	T	1004822	3	4	13	1	0	0	0	0	1	0	0	0	6799	768	27	1	1332	1	GRIN3B	19	1004822	Missense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10		1004822	58124161	43	859											
PNPLA6	10908	mdanderson.org	37	chr19	7615244	7615244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacggtggcagccaggatGtcgcccttcgtgcgccagat	7	7	13	14	4	0	1	0	0	0	1	2	2	0	2	3	3	2	1	3	3	0	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:7615244G>T	ENST00000221249.6	+	18	2189	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	PNPLA6_ENST00000414982.3_Missense_Mutation_p.M634I|PNPLA6_ENST00000600737.1_Missense_Mutation_p.M625I|PNPLA6_ENST00000545201.2_Missense_Mutation_p.M560I|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000450331.3_Missense_Mutation_p.M586I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	625					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGCCAGGATGTCGCCCTTCG	0.647																																					p.M634I													.	.			0			c.G1902T												54	51	52					19																	7615244		2202	4298	6500	SO:0001583	missense	10908	exon17			CAGGATGTCGCCC	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1758G>T	19.37:g.7615244G>T	ENSP00000221249:p.Met586Ile		51	0	0		50	0.06	3	NM_001166111	13	0	0	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847797	0.71603	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.04119	3.72;3.79;3.7;3.72	5.1	4.04	0.47022	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.040997	0.85682	N	0.000000	T	0.06735	0.0172	L	0.48174	1.505	0.80722	D	1	B;B;B;B	0.33044	0.275;0.395;0.395;0.01	B;B;B;B	0.33620	0.08;0.167;0.167;0.037	T	0.19745	-1.0296	10	0.72032	D	0.01	.	13.2834	0.60228	0.0:0.1605:0.8395:0.0	.	625;560;625;586	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	I	586;560;634;586	ENSP00000221249:M586I;ENSP00000443323:M560I;ENSP00000407509:M634I;ENSP00000394348:M586I	ENSP00000221249:M586I	M	+	3	0	PNPLA6	7521244	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.916000	0.87491	1.132000	0.42129	0.591000	0.81541	ATG			0.647	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459275.1		NM_006702		T	7615244	G	T	7615244	3	4	13	1	0	0	0	0	1	0	0	0	12186	1377	48	3	1964	3	PNPLA6	19	7615244	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	6610422	7615244	51513739	44	860											
MAP1S	55201	mdanderson.org	37	chr19	17838171	17838171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtcgctgagcccactgCggggcggggaggccgggcca	4	4	20	13	4	0	1	0	1	0	0	1	2	0	2	3	7	2	2	3	7	0	0	rs148935661		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:17838171C>T	ENST00000324096.4	+	5	2129	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R634W	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	660	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GAGCCCACTGCGGGGCGGGGA	0.721																																					p.R660W													.	.			0			c.C1978T												5	6	6					19																	17838171		2062	4056	6118	SO:0001583	missense	55201	exon5			CCACTGCGGGGCG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1978C>T	19.37:g.17838171C>T	ENSP00000325313:p.Arg660Trp		20	0	0		24	0.13	3	NM_018174	77	0	0	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745058	0.49151	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20069	2.1;2.1	3.77	2.72	0.32119	.	0.000000	0.43579	D	0.000552	T	0.36908	0.0984	L	0.53249	1.67	0.25163	N	0.990333	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.06917	-1.0800	10	0.87932	D	0	-20.9085	9.2282	0.37421	0.0:0.8863:0.0:0.1137	.	634;660	B4DH53;Q66K74	.;MAP1S_HUMAN	W	660;634	ENSP00000325313:R660W;ENSP00000439243:R634W	ENSP00000325313:R660W	R	+	1	2	MAP1S	17699171	0.001000	0.12720	0.304000	0.25085	0.507000	0.33981	0.577000	0.23758	0.679000	0.31345	0.484000	0.47621	CGG			0.721	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466027.1		NM_018174		T	17838171	C	T	17838171	3	4	13	1	0	0	0	0	1	0	0	0	9250	759	27	1	1996	1	MAP1S	19	17838171	Missense_Mutation	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10	10222927	17838171	41290812	45	861											
ZNF208	7757	mdanderson.org	37	chr19	22157461	22157461	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattataaccttctttgtgCaccttacactcatccacatt	10	17	2	12	0	2	0	1	0	1	0	3	0	3	0	3	0	3	1	3	0	4	7			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:22157461C>T	ENST00000397126.4	-	4	523	c.375G>A	c.(373-375)gtG>gtA	p.V125V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTCTTTGTGCACCTTACACT	0.318																																					p.V125V													.	.			0			c.G375A												110	110	110					19																	22157461		2070	4242	6312	SO:0001819	synonymous_variant	7757	exon4			TTTGTGCACCTTA	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.375G>A	19.37:g.22157461C>T			116	0	0		114	0.04	5	NM_007153	2	0	0		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																					0.318	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464302.1		NM_007153		T	22157461	C	T	22157461	2	4	13	1	0	0	0	0	0	0	0	1	17789	697	25	2		2	ZNF208	19	22157461	Silent	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10	4319290	22157461	36971522	46	862											
DMKN	93099	mdanderson.org	37	chr19	35991442	35991442	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagactcacctgatcgTctctgcctgcacgtttctgc	7	11	9	14	2	3	2	1	1	2	1	5	4	3	2	2	0	3	2	2	0	0	1	rs909072	byFrequency	TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:35991442T>A	ENST00000339686.3	-	12	1456	c.1280A>T	c.(1279-1281)gAc>gTc	p.D427V	DMKN_ENST00000467637.1_Missense_Mutation_p.D152V|DMKN_ENST00000472252.2_Missense_Mutation_p.D74V|DMKN_ENST00000443640.1_Missense_Mutation_p.D190V|DMKN_ENST00000402589.2_Missense_Mutation_p.D140V|DMKN_ENST00000492341.2_Missense_Mutation_p.D74V|DMKN_ENST00000602781.1_Missense_Mutation_p.D140V|DMKN_ENST00000414866.2_Missense_Mutation_p.D140V|DMKN_ENST00000408915.2_Missense_Mutation_p.D41V|DMKN_ENST00000480502.1_Missense_Mutation_p.D121V|DMKN_ENST00000419602.1_Missense_Mutation_p.D416V|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000436012.1_Missense_Mutation_p.D123V|DMKN_ENST00000429837.1_Missense_Mutation_p.D386V	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	427			D -> A (in dbSNP:rs909072). {ECO:0000269|PubMed:15234001, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16374476, ECO:0000269|PubMed:17380110}.			extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACCTGATCGTCTCTGCCTGC	0.597																																					p.D427V													.	.			0			c.A1280T												83	53	63					19																	35991442		2203	4300	6503	SO:0001583	missense	93099	exon12			TGATCGTCTCTGC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1280A>T	19.37:g.35991442T>A	ENSP00000342012:p.Asp427Val		112	0	0		72	0.04	3	NM_033317	69	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	0.948|0.948|0.948	-0.707322|-0.707322|-0.707322	0.03230|0.03230|0.03230	.|.|.	.|.|.	ENSG00000161249|ENSG00000161249|ENSG00000161249	ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640|ENST00000434389|ENST00000443857	T;T;T;T;T;T;T;T|T|.	0.31510|0.29917|.	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49|1.55|.	4.11|4.11|4.11	4.11|4.11|4.11	0.48088|0.48088|0.48088	.|.|.	0.180634|.|.	0.26971|.|.	N|.|.	0.021563|.|.	T|T|T	0.19525|0.19525|0.19525	0.0469|0.0469|0.0469	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.20489|0.20489|0.20489	N|N|N	0.999893|0.999893|0.999893	B;B;B;B;B;B;B;B;B;B|.|.	0.17038|.|.	0.02;0.0;0.0;0.001;0.006;0.001;0.0;0.0;0.0;0.0|.|.	B;B;B;B;B;B;B;B;B;B|.|.	0.18871|.|.	0.023;0.0;0.0;0.001;0.014;0.001;0.0;0.0;0.0;0.0|.|.	T|T|T	0.20338|0.20338|0.20338	-1.0278|-1.0278|-1.0278	10|7|5	0.72032|0.07644|.	D|T|.	0.01|0.81|.	-8.0194|-8.0194|-8.0194	9.4447|9.4447|9.4447	0.38690|0.38690|0.38690	0.0:0.0:0.7877:0.2123|0.0:0.0:0.7877:0.2123|0.0:0.0:0.7877:0.2123	.|.|.	83;83;103;121;416;386;427;140;190;41|.|.	Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15|.|.	.;.;.;.;.;.;DMKN_HUMAN;.;.;.|.|.	V|S|S	41;140;427;123;140;386;416;190|137|131	ENSP00000386225:D41V;ENSP00000384509:D140V;ENSP00000342012:D427V;ENSP00000412075:D123V;ENSP00000392222:D140V;ENSP00000405503:D386V;ENSP00000391036:D416V;ENSP00000406864:D190V|ENSP00000388378:R137S|.	ENSP00000342012:D427V|ENSP00000388378:R137S|.	D|R|T	-|-|-	2|3|1	0|2|0	DMKN|DMKN|DMKN	40683282|40683282|40683282	0.007000|0.007000|0.007000	0.16637|0.16637|0.16637	0.051000|0.051000|0.051000	0.19133|0.19133|0.19133	0.085000|0.085000|0.085000	0.17905|0.17905|0.17905	1.674000|1.674000|1.674000	0.37544|0.37544|0.37544	1.085000|1.085000|1.085000	0.41206|0.41206|0.41206	-0.445000|-0.445000|-0.445000	0.05633|0.05633|0.05633	GAC|AGA|ACG			0.597	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000109461.2		NM_033317		A	35991442	T	A	35991442	3	1	13	1	0	0	0	0	1	0	0	0	4587	1667	58	5	212	5	DMKN	19	35991442	Missense_Mutation	SNP	T	TCGA-2G-AAFN-01A-31D-A42Y-10	13833981	35991442	23137541	47	863											
KLC3	147700	mdanderson.org	37	chr19	45849918	45849918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcgggaggaactggaggaGacgcagcggcggcttcgggc	7	4	20	10	5	0	1	0	0	0	1	1	5	0	4	0	7	3	2	0	7	1	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:45849918G>C	ENST00000391946.2	+	3	477	c.375G>C	c.(373-375)gaG>gaC	p.E125D	KLC3_ENST00000470402.1_Missense_Mutation_p.E139D|KLC3_ENST00000585434.1_Missense_Mutation_p.E125D	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	125					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AACTGGAGGAGACGCAGCGGC	0.701																																					p.E125D													.	.			0			c.G375C												4	7	6					19																	45849918		1975	4036	6011	SO:0001583	missense	147700	exon3			GGAGGAGACGCAG	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.375G>C	19.37:g.45849918G>C	ENSP00000375810:p.Glu125Asp		41	0	0		18	0.11	2	NM_177417	2	0	0	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420459	0.25639	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.45668	0.89;0.89	4.26	4.26	0.50523	Rabaptin, GTPase-Rab5 binding (1);	0.358164	0.25461	N	0.030513	T	0.27169	0.0666	N	0.24115	0.695	0.27681	N	0.946443	B;B;B	0.33807	0.248;0.426;0.292	B;B;B	0.33042	0.097;0.14;0.157	T	0.12426	-1.0548	10	0.29301	T	0.29	13.6058	10.4151	0.44316	0.0:0.1991:0.8009:0.0	.	125;139;125	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	D	125;139	ENSP00000375810:E125D;ENSP00000436019:E139D	ENSP00000375810:E125D	E	+	3	2	KLC3	50541758	0.838000	0.29461	1.000000	0.80357	0.951000	0.60555	-0.061000	0.11693	2.390000	0.81377	0.455000	0.32223	GAG			0.701	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000289776.1		NM_145275		C	45849918	G	C	45849918	3	2	13	1	0	0	0	0	1	0	0	0	8350	933	33	5	381	5	KLC3	19	45849918	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	9858476	45849918	13279065	48	864											
AP2A1	160	mdanderson.org	37	chr19	50295218	50295218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggacagtgtcaagcagaGtgcggccctgtgcctccttc	7	9	12	13	1	1	1	1	0	0	1	3	2	2	2	3	2	3	1	3	2	1	1			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:50295218G>T	ENST00000359032.5	+	5	500	c.500G>T	c.(499-501)aGt>aTt	p.S167I	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000354293.5_Missense_Mutation_p.S167I	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	167					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)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|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)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTCAAGCAGAGTGCGGCCCTG	0.642																																					p.S167I													.	.			0			c.G500T												65	72	69					19																	50295218		2177	4257	6434	SO:0001583	missense	160	exon5			AGCAGAGTGCGGC	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.500G>T	19.37:g.50295218G>T	ENSP00000351926:p.Ser167Ile		30	0	0		50	0.06	3	NM_130787	31	0	0	Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526428	0.64860	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.27402	1.67;1.67	5.01	5.01	0.66863	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.120635	0.56097	D	0.000037	T	0.60327	0.2260	M	0.83012	2.62	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67241	-0.5720	10	0.87932	D	0	.	17.1021	0.86652	0.0:0.0:1.0:0.0	.	167;167	O95782-2;O95782	.;AP2A1_HUMAN	I	167	ENSP00000346246:S167I;ENSP00000351926:S167I	ENSP00000346246:S167I	S	+	2	0	AP2A1	54987030	1.000000	0.71417	0.986000	0.45419	0.611000	0.37282	3.633000	0.54295	2.334000	0.79466	0.655000	0.94253	AGT			0.642	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000465809.1				T	50295218	G	T	50295218	3	4	13	1	0	0	0	0	1	0	0	0	739	1029	36	3	518	3	AP2A1	19	50295218	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	4445300	50295218	8833765	49	865											
ZBTB46	140685	mdanderson.org	37	chr20	62421958	62421958	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgaagtagcggctgctGcccagcaggacgttcttgtg	6	11	14	10	2	2	1	0	1	2	0	2	2	2	2	1	2	4	5	1	2	2	4			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr20:62421958G>T	ENST00000245663.4	-	2	303	c.153C>A	c.(151-153)ggC>ggA	p.G51G	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Silent_p.G51G|ZBTB46_ENST00000302995.2_Silent_p.G51G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	51	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)					AGCGGCTGCTGCCCAGCAGGA	0.642																																					p.G51G													.	.			0			c.C153A												61	51	55					20																	62421958		2203	4300	6503	SO:0001819	synonymous_variant	140685	exon2			GCTGCTGCCCAGC	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.153C>A	20.37:g.62421958G>T			39	0	0		28	0.11	3	NM_025224	6	0	0	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	CCDS13538.1																																																																																					0.642	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080232.2		NM_025224		T	62421958	G	T	62421958	2	4	13	1	0	0	0	0	0	0	0	1	17570	1306	46	2		2	ZBTB46	20	62421958	Silent	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10		62421958	603562	50	866											
SEPT6	23157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	118774680	118774680	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagtgccccaaggatactgCcgcgccctcatcatcttgtt	8	10	8	15	2	3	0	2	0	1	0	3	1	3	1	4	1	3	1	4	1	2	3			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chrX:118774680C>G	ENST00000343984.5	-	6	1026	c.762G>C	c.(760-762)cgG>cgC	p.R254R	SEPT6_ENST00000360156.7_Silent_p.R254R|SEPT6_ENST00000354416.3_Silent_p.R254R|SEPT6_ENST00000394610.1_Silent_p.R254R|SEPT6_ENST00000354228.4_Silent_p.R254R|SEPT6_ENST00000394617.2_Silent_p.R284R|SEPT6_ENST00000489216.1_Silent_p.R254R|SEPT6_ENST00000394616.4_Silent_p.R196R	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	254	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						AAGGATACTGCCGCGCCCTCA	0.542			T	MLL	AML																																p.R254R				Dom	yes		X	Xq24	23157	septin 6		L	.	.			0			c.G762C												192	136	155					X																	118774680		2203	4300	6503	SO:0001819	synonymous_variant	23157	exon6			ATACTGCCGCGCC	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.762G>C	X.37:g.118774680C>G			78	0	0		149	0.08	12	NM_145802	126	0.05	6	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	CCDS14584.1																																																																																					0.542	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000058059.1		NM_145802		G	118774680	C	G	118774680	2	3	13	1	0	0	0	0	0	0	0	1	14091	726	26	5		5	SEPT6	23	118774680	Silent	SNP	C	TCGA-2G-AAFN-01A-31D-A42Y-10		118774680	36495880	51	867											
SAGE1	55511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	134993829	134993829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaattctgattcaccagaGctgataaatatgacaggaca	16	10	7	8	0	3	4	2	3	1	1	3	5	3	5	1	1	1	1	1	1	4	4			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chrX:134993829G>C	ENST00000370709.3	+	17	2238	c.2238G>C	c.(2236-2238)gaG>gaC	p.E746D	SAGE1_ENST00000324447.3_Missense_Mutation_p.E746D|SAGE1_ENST00000537770.1_Missense_Mutation_p.E370D|SAGE1_ENST00000535938.1_Missense_Mutation_p.E746D			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	746						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)					ATTCACCAGAGCTGATAAATA	0.443																																					p.E746D													.	.			0			c.G2238C												150	144	146					X																	134993829		2203	4300	6503	SO:0001583	missense	55511	exon18			ACCAGAGCTGATA	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.2238G>C	X.37:g.134993829G>C	ENSP00000359743:p.Glu746Asp		141	0	0		255	0.19	49	NM_018666	0		0	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899942	0.33535	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.38077	1.16;1.16;1.2;1.16	2.67	0.291	0.15732	.	1.608440	0.03472	U	0.213872	T	0.47544	0.1451	M	0.72118	2.19	0.09310	N	1	P;D	0.58970	0.856;0.984	P;P	0.53224	0.721;0.712	T	0.38373	-0.9664	10	0.16896	T	0.51	.	7.4656	0.27320	0.0:0.0:0.3779:0.6221	.	370;746	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	D	746;746;370;746	ENSP00000323191:E746D;ENSP00000445959:E746D;ENSP00000438276:E370D;ENSP00000359743:E746D	ENSP00000323191:E746D	E	+	3	2	SAGE1	134821495	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.884000	0.04166	0.106000	0.17784	0.179000	0.17066	GAG			0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058448.1		NM_018666		C	134993829	G	C	134993829	3	2	13	1	0	0	0	0	1	0	0	0	13832	962	34	5	2304	5	SAGE1	23	134993829	Missense_Mutation	SNP	G	TCGA-2G-AAFN-01A-31D-A42Y-10	16219149	134993829	20276731	52	868											
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcaaagagaaatgttttCtaactcaactggccggcttc	12	11	7	11	1	3	1	2	0	1	1	4	2	3	1	2	2	2	2	2	2	4	4	rs55936365		TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		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)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V													NBPF10,NS,carcinoma,0,2	NBPF10	0	2	2	Substitution - Missense(2)	kidney(2)	c.C130G																																									SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	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.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val		69	0.0144927536	1		93	0.05	5	NM_001039703	0		0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT			0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding		OTTHUMT00000038550.3		NM_001039703		G	145293535	C	G	145293535	3	3	14	1	0	0	0	0	1	0	0	0	10209	912	32	5	132	5	NBPF10	1	145293535	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10		145293535	103957086	1	869											
PIP5K1A	8394	broad.mit.edu	37	chr1	151205142	151205142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtccaacataaagaggCggaatttctgcagaagctgc	14	7	11	9	1	1	2	0	0	1	2	2	4	2	3	1	2	4	2	1	2	5	2			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr1:151205142C>A	ENST00000368888.4	+	7	1024	c.602C>A	c.(601-603)gCg>gAg	p.A201E	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.A189E|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.A188E|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.A189E	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	201	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				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)			CATAAAGAGGCGGAATTTCTG	0.507																																					p.A201E	Pancreas(80;36 1443 2325 16095 21302)												PIP5K1A_ENST00000368888,NS,carcinoma,0,1	PIP5K1A	61	1	0			c.C602A												90	85	87					1																	151205142		2203	4300	6503	SO:0001583	missense	8394	exon7			AAGAGGCGGAATT	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.602C>A	1.37:g.151205142C>A	ENSP00000357883:p.Ala201Glu		82	0	0		85	0.05	4	NM_001135638	9	0	0	A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259838	0.95368	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.22	5.22	0.72569	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.85197	2.74	0.80722	D	1	P;D;P;D	0.76494	0.52;0.999;0.869;0.999	P;D;P;D	0.75020	0.526;0.971;0.557;0.985	T	0.61845	-0.6979	10	0.49607	T	0.09	.	18.6216	0.91323	0.0:1.0:0.0:0.0	.	189;188;201;188	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	E	188;189;189;188;201	ENSP00000271663:A188E;ENSP00000386432:A189E;ENSP00000415648:A189E;ENSP00000357885:A188E;ENSP00000357883:A201E	ENSP00000271663:A188E	A	+	2	0	PIP5K1A	149471766	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.606000	0.82863	2.741000	0.93983	0.479000	0.44913	GCG			0.507	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000034425.2		NM_003557		A	151205142	C	A	151205142	3	1	14	1	0	0	0	0	1	0	0	0	11956	768	27	1	628	1	PIP5K1A	1	151205142	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	5911607	151205142	98045479	2	870											
EGLN1	54583	mdanderson.org	37	chr1	231557492	231557492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttcttccagtcctgaCgctggtgctccttgcagcag	4	13	11	13	1	1	1	0	1	1	0	4	1	4	1	3	1	4	5	3	1	0	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr1:231557492C>T	ENST00000366641.3	-	1	3298	c.143G>A	c.(142-144)cGt>cAt	p.R48H	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				CCAGTCCTGACGCTGGTGCTC	0.687																																					p.R48H													.	.			0			c.G143A												7	8	8					1																	231557492		2176	4253	6429	SO:0001583	missense	54583	exon1			TCCTGACGCTGGT	AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"Zinc fingers, MYND-type"	1232	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 2"	606425	"EGL nine (C.elegans) homolog 1", "egl nine homolog 1 (C. elegans)"	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.143G>A	1.37:g.231557492C>T	ENSP00000355601:p.Arg48His		16	0	0		15	0.2	3	NM_022051	4	0	0		Missense_Mutation	SNP	ENST00000366641.3	37	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	c	24.7	4.555965	0.86231	.	.	ENSG00000135766	ENST00000366641	D	0.87029	-2.2	3.96	3.96	0.45880	Zinc finger, MYND-type (3);	0.507528	0.19541	N	0.111820	D	0.92176	0.7519	M	0.70108	2.13	0.41067	D	0.98542	D	0.76494	0.999	D	0.66847	0.947	D	0.92397	0.5926	10	0.46703	T	0.11	-7.7694	15.9944	0.80230	0.0:1.0:0.0:0.0	.	48	Q9GZT9	EGLN1_HUMAN	H	48	ENSP00000355601:R48H	ENSP00000355601:R48H	R	-	2	0	EGLN1	229624115	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	2.192000	0.42649	1.753000	0.51906	0.197000	0.17608	CGT			0.687	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092879.1		NM_022051		T	231557492	C	T	231557492	3	4	14	1	0	0	0	0	1	0	0	0	4973	536	19	1	1157	1	EGLN1	1	231557492	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	80352350	231557492	17693129	3	871											
SCCPDH	51097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	246927615	246927615	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaggcactggtacagataAgaacaaaccaaatatcaaaa	21	5	6	9	0	1	2	1	0	0	2	1	2	1	2	2	2	3	2	2	2	9	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr1:246927615A>T	ENST00000366510.3	+	10	1434	c.1058A>T	c.(1057-1059)aAg>aTg	p.K353M		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	353						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGTACAGATAAGAACAAACCA	0.393																																					p.K353M													.	.			0			c.A1058T												129	123	125					1																	246927615		2203	4300	6503	SO:0001583	missense	51097	exon10			CAGATAAGAACAA		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.1058A>T	1.37:g.246927615A>T	ENSP00000355467:p.Lys353Met		97	0	0		83	0.23	19	NM_016002	173	0.26	45	Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.519587	0.64634	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.45668	0.89	6.03	6.03	0.97812	.	0.466243	0.27613	N	0.018596	T	0.56673	0.2001	M	0.70595	2.14	0.49687	D	0.999818	P	0.36660	0.564	P	0.47528	0.549	T	0.57365	-0.7824	10	0.54805	T	0.06	.	16.2389	0.82396	1.0:0.0:0.0:0.0	.	353	Q8NBX0	SCPDL_HUMAN	M	353;165	ENSP00000355467:K353M	ENSP00000355466:K165M	K	+	2	0	SCCPDH	244994238	0.996000	0.38824	0.818000	0.32626	0.323000	0.28346	3.502000	0.53332	2.302000	0.77476	0.533000	0.62120	AAG			0.393	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096902.2		NM_016002		T	246927615	A	T	246927615	3	4	14	1	0	0	0	0	1	0	0	0	13908	72	3	5	1096	5	SCCPDH	1	246927615	Missense_Mutation	SNP	A	TCGA-2G-AAFO-01A-31D-A42Y-10	15370123	246927615	2323006	4	872											
VGLL4	9686	mdanderson.org	37	chr3	11606410	11606410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgccgtgcaggctcAtggtgggggccacagcgcgc	4	6	19	12	3	1	0	1	0	0	0	1	0	1	0	2	6	3	3	2	6	0	0			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr3:11606410A>G	ENST00000413604.1	-	3	531	c.161T>C	c.(160-162)aTg>aCg	p.M54T	VGLL4_ENST00000451674.2_Missense_Mutation_p.M33T|VGLL4_ENST00000404339.1_Missense_Mutation_p.M118T|VGLL4_ENST00000273038.3_Missense_Mutation_p.M113T|VGLL4_ENST00000424529.2_Missense_Mutation_p.M29T|VGLL4_ENST00000430365.2_Missense_Mutation_p.M119T			Q14135	VGLL4_HUMAN	vestigial-like family member 4	113					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)		GTGCAGGCTCATGGTGGGGGC	0.667																																					p.M119T													.	.			0			c.T356C												19	22	21					3																	11606410		2201	4293	6494	SO:0001583	missense	9686	exon3			AGGCTCATGGTGG	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	ENST00000413604.1:c.161T>C	3.37:g.11606410A>G	ENSP00000404624:p.Met54Thr		32	0	0		22	0.18	4	NM_001128219	17	0	0	B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000413604.1	37		.	.	.	.	.	.	.	.	.	.	A	13.47	2.246807	0.39697	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339;ENST00000445411;ENST00000418000;ENST00000458499;ENST00000417206;ENST00000424709;ENST00000419541;ENST00000437722	T;T;T;T;T;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;1.0;1.0;1.0;1.0;1.0	5.22	5.22	0.72569	.	0.367413	0.32819	N	0.005604	T	0.35098	0.0920	L	0.51422	1.61	0.44508	D	0.997451	B;P;B;P;B	0.38395	0.332;0.477;0.338;0.629;0.338	B;B;B;B;B	0.33254	0.117;0.115;0.115;0.16;0.079	T	0.13575	-1.0504	10	0.18276	T	0.48	-10.8764	15.1024	0.72292	1.0:0.0:0.0:0.0	.	119;33;29;118;113	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	T	113;54;33;29;119;118;113;113;109;113;54;113;54	ENSP00000273038:M113T;ENSP00000404624:M54T;ENSP00000416615:M33T;ENSP00000402878:M29T;ENSP00000404251:M119T;ENSP00000384705:M118T;ENSP00000412923:M113T;ENSP00000394439:M113T;ENSP00000394123:M109T;ENSP00000391932:M113T;ENSP00000391554:M54T;ENSP00000395557:M113T;ENSP00000393100:M54T	ENSP00000273038:M113T	M	-	2	0	VGLL4	11581410	1.000000	0.71417	0.879000	0.34478	0.850000	0.48378	4.767000	0.62286	1.971000	0.57363	0.459000	0.35465	ATG			0.667	VGLL4-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000339139.2		NM_014667		G	11606410	A	G	11606410	3	3	14	1	0	0	0	0	1	0	0	0	17185	217	8	4	546	4	VGLL4	3	11606410	Missense_Mutation	SNP	A	TCGA-2G-AAFO-01A-31D-A42Y-10		11606410	186416020	5	873											
ZFYVE20	64145	mdanderson.org	37	chr3	15115315	15115315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgccccccttctgcttggCcagggtgtgcttcagctccc	3	11	11	16	0	2	0	1	0	1	0	3	0	3	0	5	2	4	3	5	2	0	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr3:15115315C>T	ENST00000253699.3	-	14	2942	c.2329G>A	c.(2329-2331)Gcc>Acc	p.A777T	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.A777T	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	777	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				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						TTCTGCTTGGCCAGGGTGTGC	0.612																																					p.A777T													.	.			0			c.G2329A												60	56	57					3																	15115315		2203	4300	6503	SO:0001583	missense	64145	exon14			GCTTGGCCAGGGT	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.2329G>A	3.37:g.15115315C>T	ENSP00000253699:p.Ala777Thr		57	0	0		51	0.06	3	NM_022340	3	0	0	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820905	0.90873	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.42900	0.96;0.96	5.49	5.49	0.81192	.	0.168469	0.53938	D	0.000050	T	0.44705	0.1306	N	0.22421	0.69	0.80722	D	1	P	0.50819	0.939	P	0.51324	0.666	T	0.46176	-0.9210	10	0.72032	D	0.01	-18.3343	19.3737	0.94500	0.0:1.0:0.0:0.0	.	777	Q9H1K0	RBNS5_HUMAN	T	777	ENSP00000253699:A777T;ENSP00000422551:A777T	ENSP00000253699:A777T	A	-	1	0	ZFYVE20	15090319	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.136000	0.71703	2.578000	0.87016	0.591000	0.81541	GCC			0.612	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252102.2		NM_022340		T	15115315	C	T	15115315	3	4	14	1	0	0	0	0	1	0	0	0	17689	739	26	2	29	2	ZFYVE20	3	15115315	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	3508905	15115315	182907115	6	874											
ZXDC	79364	mdanderson.org	37	chr3	126180459	126180459	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggactgggcaacgtggactgGggcagcccatggcttccttc	6	8	15	12	1	0	0	0	0	0	0	2	2	1	2	2	6	2	3	2	6	1	2			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr3:126180459G>T	ENST00000389709.3	-	6	2099	c.2046C>A	c.(2044-2046)ccC>ccA	p.P682P	ZXDC_ENST00000336332.5_Silent_p.P682P	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	682	Required for transcriptional activation.				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)		ACGTGGACTGGGGCAGCCCAT	0.597																																					p.P682P													.	.			0			c.C2046A												51	56	54					3																	126180459		2115	4225	6340	SO:0001819	synonymous_variant	79364	exon6			GGACTGGGGCAGC	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.2046C>A	3.37:g.126180459G>T			139	0.0071942446	1		140	0.04	5	NM_025112	37	0	0	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Silent	SNP	ENST00000389709.3	37	CCDS43145.1																																																																																					0.597	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000370327.2		NM_025112		T	126180459	G	T	126180459	2	4	14	1	0	0	0	0	0	0	0	1	18275	1219	43	3		3	ZXDC	3	126180459	Silent	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	111065144	126180459	71841971	7	875											
ATR	545	broad.mit.edu	37	chr3	142222247	142222247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtgataacagtagacaGctgaccaagacctaacatgg	15	7	10	9	0	0	5	0	3	0	2	0	5	0	5	2	1	3	2	2	1	4	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr3:142222247G>T	ENST00000350721.4	-	30	5366	c.5245C>A	c.(5245-5247)Ctg>Atg	p.L1749M	ATR_ENST00000383101.3_Missense_Mutation_p.L1685M	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1749	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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						ACAGTAGACAGCTGACCAAGA	0.299								Other conserved DNA damage response genes																													p.L1749M													ATR,colon,carcinoma,+1,1	ATR	285	1	0			c.C5245A												56	54	55					3																	142222247		2203	4296	6499	SO:0001583	missense	545	exon30			TAGACAGCTGACC	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.5245C>A	3.37:g.142222247G>T	ENSP00000343741:p.Leu1749Met		515	0.0019417476	1		549	0.01	7	NM_001184	2	0	0	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076496	0.55753	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03889	3.77;3.81	5.34	2.05	0.26809	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.13884	0.0336	M	0.75447	2.3	0.58432	D	0.999997	D	0.69078	0.997	D	0.65987	0.94	T	0.02031	-1.1226	10	0.38643	T	0.18	-9.5255	5.5723	0.17204	0.5265:0.0:0.4735:0.0	.	1749	Q13535	ATR_HUMAN	M	1749;1685	ENSP00000343741:L1749M;ENSP00000372581:L1685M	ENSP00000343741:L1749M	L	-	1	2	ATR	143704937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.116000	0.50399	0.730000	0.32425	0.591000	0.81541	CTG			0.299	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353995.2		NM_001184		T	142222247	G	T	142222247	3	4	14	1	0	0	0	0	1	0	0	0	1204	962	34	2	2761	2	ATR	3	142222247	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	16041788	142222247	55800183	8	876											
N4BP2	55728	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	40154443	40154443	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctatttgtctgtgattacGgggagaggaaaccacagcca	11	9	11	10	1	1	2	0	1	1	1	1	4	1	3	3	3	3	0	3	3	3	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr4:40154443G>T	ENST00000261435.6	+	17	5603	c.5187G>T	c.(5185-5187)acG>acT	p.T1729T		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1729	Smr. {ECO:0000255|PROSITE- ProRule:PRU00321}.				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						CTGTGATTACGGGGAGAGGAA	0.418																																					p.T1729T													.	.			0			c.G5187T												130	118	122					4																	40154443		2203	4300	6503	SO:0001819	synonymous_variant	55728	exon17			GATTACGGGGAGA	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.5187G>T	4.37:g.40154443G>T			203	0	0		199	0.04	8	NM_018177	20	0	0	A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	8.970	0.972707	0.18736	.	.	ENSG00000078177	ENST00000513269	.	.	.	5.83	-0.334	0.12666	.	.	.	.	.	T	0.42585	0.1209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20075	-1.0286	4	.	.	.	-10.6497	2.7943	0.05397	0.1203:0.1934:0.2688:0.4176	.	.	.	.	W	1359	.	.	G	+	1	0	N4BP2	39830838	0.997000	0.39634	0.982000	0.44146	0.982000	0.71751	0.417000	0.21214	-0.428000	0.07339	0.655000	0.94253	GGG			0.418	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250458.2		NM_018177		T	40154443	G	T	40154443	2	4	14	1	0	0	0	0	0	0	0	1	10126	1103	39	1		1	N4BP2	4	40154443	Silent	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10		40154443	150999833	9	877											
COL25A1	84570	mdanderson.org	37	chr4	110223132	110223132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtcgggtcctcggatctgGgctcccggccccctcctttc	1	10	13	17	3	1	0	0	0	1	0	7	1	4	1	5	5	0	1	5	5	0	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr4:110223132G>T	ENST00000399132.1	-	2	574	c.44C>A	c.(43-45)cCc>cAc	p.P15H	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399127.1_Missense_Mutation_p.P15H|COL25A1_ENST00000399126.1_Missense_Mutation_p.P15H	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)		CTCGGATCTGGGCTCCCGGCC	0.667																																					p.P15H													.	.			0			c.C44A												34	38	37					4																	110223132		1967	4147	6114	SO:0001583	missense	84570	exon2			GATCTGGGCTCCC	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.44C>A	4.37:g.110223132G>T	ENSP00000382083:p.Pro15His		27	0	0		33	0.09	3	NM_032518	1	0	0		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	8.961	0.970468	0.18659	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653;ENST00000505591	D;D;D	0.91631	-2.66;-2.78;-2.88	4.88	3.15	0.36227	.	0.347267	0.21337	N	0.076198	T	0.80737	0.4680	N	0.14661	0.345	0.09310	N	1	B;B;B	0.32693	0.232;0.115;0.38	B;B;B	0.34138	0.12;0.176;0.085	T	0.68265	-0.5454	9	.	.	.	1.8489	2.1792	0.03870	0.1678:0.1559:0.5148:0.1615	.	15;15;15	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	H	15	ENSP00000382083:P15H;ENSP00000382078:P15H;ENSP00000382077:P15H	.	P	-	2	0	COL25A1	110442581	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	0.445000	0.21677	0.775000	0.33450	-0.268000	0.10319	CCC			0.667	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315938.2		NM_032518		T	110223132	G	T	110223132	3	4	14	1	0	0	0	0	1	0	0	0	3686	1232	43	3	2148	3	COL25A1	4	110223132	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	70068689	110223132	80931144	10	878											
TRAM1L1	133022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	118006336	118006336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgacaccataataatagaGggactttgagcccgtggctt	11	12	10	8	1	0	3	0	2	0	1	0	4	0	4	2	2	1	1	2	2	3	6			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr4:118006336G>A	ENST00000310754.4	-	1	400	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	72					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TAATAATAGAGGGACTTTGAG	0.453																																					p.L72F													.	.			0			c.C214T												67	67	67					4																	118006336		2203	4300	6503	SO:0001583	missense	133022	exon1			AATAGAGGGACTT	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.214C>T	4.37:g.118006336G>A	ENSP00000309402:p.Leu72Phe		181	0	0		114	0.17	19	NM_152402	0		0	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	G	1.748	-0.489993	0.04322	.	.	ENSG00000174599	ENST00000310754	T	0.44482	0.92	4.4	3.56	0.40772	TRAM1-like protein (1);	0.369461	0.28338	N	0.015703	T	0.28101	0.0693	L	0.41573	1.285	0.09310	N	0.999996	B	0.12013	0.005	B	0.20384	0.029	T	0.14227	-1.0480	10	0.14656	T	0.56	2.5641	5.6083	0.17391	0.0989:0.0:0.7065:0.1946	.	72	Q8N609	TR1L1_HUMAN	F	72	ENSP00000309402:L72F	ENSP00000309402:L72F	L	-	1	0	TRAM1L1	118225784	1.000000	0.71417	0.031000	0.17742	0.062000	0.15995	2.113000	0.41902	1.446000	0.47643	0.655000	0.94253	CTC			0.453	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256513.1		NM_152402		A	118006336	G	A	118006336	3	1	14	1	0	0	0	0	1	0	0	0	16476	1000	35	3	899	3	TRAM1L1	4	118006336	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	7783204	118006336	73147940	11	879											
PCDHA9	9752	mdanderson.org	37	chr5	140229869	140229869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggaaggtgcgcgcaGtggacgccgactcgggctac	6	6	19	10	5	0	0	0	0	0	0	1	3	0	2	1	6	2	2	1	6	2	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr5:140229869G>C	ENST00000532602.1	+	1	2822	c.1789G>C	c.(1789-1791)Gtg>Ctg	p.V597L	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.V597L|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	597	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)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCAGTGGACGCCGA	0.687																																					p.V597L	Melanoma(55;1800 1972 14909)												.	.			0			c.G1789C												62	68	66					5																	140229869		2196	4267	6463	SO:0001583	missense	9752	exon1			CGCGCAGTGGACG	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1789G>C	5.37:g.140229869G>C	ENSP00000436042:p.Val597Leu		34	0	0		43	0.07	3	NM_031857	0		0	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	9.170	1.021022	0.19433	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51817	0.69;0.69	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.29066	U	0.013244	T	0.64000	0.2559	M	0.67569	2.06	0.09310	N	1	D;D	0.67145	0.995;0.996	D;D	0.77557	0.946;0.99	T	0.55276	-0.8166	10	0.87932	D	0	.	12.1102	0.53836	0.0:0.1745:0.8255:0.0	.	597;597	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	597	ENSP00000436042:V597L;ENSP00000367362:V597L	ENSP00000367362:V597L	V	+	1	0	PCDHA9	140210053	0.004000	0.15560	0.994000	0.49952	0.286000	0.27126	0.345000	0.19979	1.839000	0.53478	0.313000	0.20887	GTG			0.687	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372896.2		NM_031857		C	140229869	G	C	140229869	3	2	14	1	0	0	0	0	1	0	0	0	11548	1029	36	5	1791	5	PCDHA9	5	140229869	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10		140229869	40685391	12	880											
SSR1	6745	mdanderson.org	37	chr6	7313285	7313285	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctcacctctggggccGcctcggaacaagacagtggc	8	5	12	16	2	2	1	1	0	1	1	3	2	2	2	5	4	2	0	5	4	2	0			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr6:7313285G>T	ENST00000244763.4	-	1	155	c.69C>A	c.(67-69)ggC>ggA	p.G23G	SSR1_ENST00000488834.1_Intron|SSR1_ENST00000534851.1_Silent_p.G23G|SSR1_ENST00000474597.1_Silent_p.G23G|SSR1_ENST00000462112.1_Silent_p.G23G|SSR1_ENST00000397511.2_Silent_p.G23G|SSR1_ENST00000479365.1_Silent_p.G23G|SSR1_ENST00000489567.1_Silent_p.G23G	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	23					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)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CTCTGGGGCCGCCTCGGAACA	0.637																																					p.G23G													.	.			0			c.C69A												45	43	44					6																	7313285		2194	4285	6479	SO:0001819	synonymous_variant	6745	exon1			GGGGCCGCCTCGG		CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"translocon-associated protein alpha"	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.69C>A	6.37:g.7313285G>T			48	0	0		45	0.07	3	NM_003144	75	0	0	A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Silent	SNP	ENST00000244763.4	37	CCDS4499.1																																																																																					0.637	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039775.2				T	7313285	G	T	7313285	2	4	14	1	0	0	0	0	0	0	0	1	15213	1074	38	1		1	SSR1	6	7313285	Silent	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10		7313285	163801782	13	881											
ITPR3	3710	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	33638313	33638313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgccggtcaagtttgccCgtctctggactgagatcccc	6	10	10	15	3	3	1	2	1	1	1	5	3	4	2	4	2	1	1	4	2	1	1	rs147317574		TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr6:33638313C>T	ENST00000374316.5	+	20	3461	c.2401C>T	c.(2401-2403)Cgt>Tgt	p.R801C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R801C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	801					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CAAGTTTGCCCGTCTCTGGAC	0.647																																					p.R801C													.	ITPR3	409		0			c.C2401T							C	CYS/ARG	0,4406		0,0,2203	71	66	67		2401	4.9	1	6	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITPR3	NM_002224.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	801/2672	33638313	1,13005	2203	4300	6503	SO:0001583	missense	3710	exon19			TTTGCCCGTCTCT	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2401C>T	6.37:g.33638313C>T	ENSP00000363435:p.Arg801Cys		90	0	0		85	0.06	5	NM_002224	0		0	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176606	0.94846	0.0	1.16E-4	ENSG00000096433	ENST00000374316	D	0.95690	-3.78	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.97763	0.9266	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98730	1.0712	10	0.87932	D	0	-24.4877	18.1189	0.89565	0.0:1.0:0.0:0.0	.	801	Q14573	ITPR3_HUMAN	C	801	ENSP00000363435:R801C	ENSP00000363435:R801C	R	+	1	0	ITPR3	33746291	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.728000	0.84847	2.281000	0.76405	0.563000	0.77884	CGT			0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040204.2		NM_002224		T	33638313	C	T	33638313	3	4	14	1	0	0	0	0	1	0	0	0	7937	652	23	1	2475	1	ITPR3	6	33638313	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	26325028	33638313	137476754	14	882											
EIF2C2	27161	mdanderson.org	37	chr8	141551323	141551323	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcgggtgggcttgaaGcgcgtggacttgtagaactg	8	10	17	6	3	0	3	0	2	0	1	0	4	0	4	0	3	3	2	0	3	3	3	rs536908785		TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr8:141551323G>T	ENST00000220592.5	-	15	2086	c.1974C>A	c.(1972-1974)cgC>cgA	p.R658R	AGO2_ENST00000519980.1_Silent_p.R658R	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	658	Interaction with GW182 family members. {ECO:0000255}.|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)										TGGGCTTGAAGCGCGTGGACT	0.627																																					p.R658R													.	.			0			c.C1974A												115	89	98					8																	141551323		2202	4300	6502	SO:0001819	synonymous_variant	27161	exon15			CTTGAAGCGCGTG	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.1974C>A	8.37:g.141551323G>T			82	0	0		71	0.06	4	NM_012154	12	0	0	Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	CCDS6380.1																																																																																					0.627	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377866.4				T	141551323	G	T	141551323	2	4	14	1	0	0	0	0	0	0	0	1	5011	958	34	2		2	EIF2C2	8	141551323	Silent	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10		141551323	4812699	15	883											
TRPM6	140803	mdanderson.org	37	chr9	77359051	77359051	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagggctttttaaggaGgctgagatctctgaaattag	10	14	12	5	0	2	3	0	3	2	1	3	5	2	4	0	3	0	2	0	3	3	5			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr9:77359051G>T	ENST00000360774.1	-	32	5331	c.5094C>A	c.(5092-5094)gcC>gcA	p.A1698A	TRPM6_ENST00000376872.3_Silent_p.A653A|TRPM6_ENST00000361255.3_Silent_p.A1693A|TRPM6_ENST00000449912.2_Silent_p.A1693A|TRPM6_ENST00000451710.3_Silent_p.A1702A|TRPM6_ENST00000376871.3_Silent_p.A535A|TRPM6_ENST00000376864.4_Silent_p.A1702A	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1698					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTTTAAGGAGGCTGAGATCT	0.373																																					p.A1698A													.	.			0			c.C5094A												158	149	152					9																	77359051		2203	4300	6503	SO:0001819	synonymous_variant	140803	exon32			TAAGGAGGCTGAG	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5094C>A	9.37:g.77359051G>T			63	0	0		58	0.05	3	NM_017662	1	0	0	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																					0.373	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000052693.1		NM_017662		T	77359051	G	T	77359051	2	4	14	1	0	0	0	0	0	0	0	1	16614	987	35	3		3	TRPM6	9	77359051	Silent	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10		77359051	63854380	16	884											
NET1	10276	mdanderson.org	37	chr10	5454763	5454763	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttcggccgacacctcCgggtcggagctggacgggag	5	5	18	13	5	0	0	0	0	0	0	3	4	1	3	4	6	1	1	4	6	0	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr10:5454763C>A	ENST00000355029.4	+	1	250	c.108C>A	c.(106-108)tcC>tcA	p.S36S	NET1_ENST00000542715.1_5'Flank	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	36	Necessary for nuclear localization. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCGACACCTCCGGGTCGGAGC	0.721																																					p.S36S													.	.			0			c.C108A												4	5	5					10																	5454763		1675	3775	5450	SO:0001819	synonymous_variant	10276	exon1			CACCTCCGGGTCG	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.108C>A	10.37:g.5454763C>A			20	0	0		19	0.16	3	NM_001047160	0		0	Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	CCDS41483.1																																																																																					0.721	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000046553.3		NM_005863		A	5454763	C	A	5454763	2	1	14	1	0	0	0	0	0	0	0	1	10355	639	23	1		1	NET1	10	5454763	Silent	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10		5454763	130079984	17	885											
FRMD4A	55691	mdanderson.org	37	chr10	13698996	13698996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttggacgtcttgaactgagCcttgacgctgtagtggccct	6	12	13	10	2	1	3	0	3	1	0	1	4	1	4	2	2	2	3	2	2	2	4			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr10:13698996C>T	ENST00000357447.2	-	22	2961	c.2593G>A	c.(2593-2595)Gct>Act	p.A865T	FRMD4A_ENST00000378503.1_Missense_Mutation_p.A865T|FRMD4A_ENST00000358621.4_Missense_Mutation_p.A850T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	865					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						TTGAACTGAGCCTTGACGCTG	0.697																																					p.A865T													.	.			0			c.G2593A												20	21	21					10																	13698996		2203	4300	6503	SO:0001583	missense	55691	exon22			ACTGAGCCTTGAC	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.2593G>A	10.37:g.13698996C>T	ENSP00000350032:p.Ala865Thr		8	0	0		9	0.22	2	NM_018027	2	0	0	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691107	0.88735	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.85629	-2.0;-2.01;-2.01	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	L	0.47716	1.5	0.80722	D	1	D	0.67145	0.996	P	0.58660	0.843	D	0.90000	0.4114	10	0.72032	D	0.01	-18.2791	17.8751	0.88823	0.0:1.0:0.0:0.0	.	865	Q9P2Q2	FRM4A_HUMAN	T	850;865;865	ENSP00000351438:A850T;ENSP00000350032:A865T;ENSP00000367764:A865T	ENSP00000350032:A865T	A	-	1	0	FRMD4A	13739002	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.254000	0.78329	2.195000	0.70347	0.174000	0.16983	GCT			0.697	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000046889.1		NM_018027		T	13698996	C	T	13698996	3	4	14	1	0	0	0	0	1	0	0	0	6064	739	26	2	538	2	FRMD4A	10	13698996	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	8244233	13698996	121835751	18	886											
ATAD1	84896	mdanderson.org	37	chr10	89530769	89530769	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccgagtcaaggtcctgAggacgattggtagctcccat	10	9	12	10	2	1	1	1	1	0	0	3	4	3	2	3	3	2	2	3	3	3	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr10:89530769A>G	ENST00000308448.7	-	7	1098	c.720T>C	c.(718-720)ccT>ccC	p.P240P	ATAD1_ENST00000328142.3_Silent_p.P240P|ATAD1_ENST00000541004.1_Silent_p.P240P|ATAD1_ENST00000400215.3_Intron	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	240					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CAAGGTCCTGAGGACGATTGG	0.378																																					p.P240P													.	.			0			c.T720C												118	108	111					10																	89530769		2203	4300	6503	SO:0001819	synonymous_variant	84896	exon7			GTCCTGAGGACGA	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.720T>C	10.37:g.89530769A>G			100	0	0		57	0.05	3	NM_032810	50	0	0	D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Silent	SNP	ENST00000308448.7	37	CCDS7386.1																																																																																					0.378	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049235.1		NM_032810		G	89530769	A	G	89530769	2	3	14	1	0	0	0	0	0	0	0	1	1070	291	11	4		4	ATAD1	10	89530769	Silent	SNP	A	TCGA-2G-AAFO-01A-31D-A42Y-10	75831773	89530769	46003978	19	887											
ATAD1	84896	hgsc.bcm.edu	37	chr10	89544257	89544257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataaagatgatggatggttGtagctttatggcaagggaga	13	12	14	2	0	0	3	0	1	0	2	0	5	0	4	0	4	1	4	0	4	6	6			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr10:89544257G>T	ENST00000308448.7	-	5	931	c.553C>A	c.(553-555)Caa>Aaa	p.Q185K	ATAD1_ENST00000328142.3_Missense_Mutation_p.Q185K|ATAD1_ENST00000541004.1_Missense_Mutation_p.Q185K|ATAD1_ENST00000400215.3_Missense_Mutation_p.Q127K|ATAD1_ENST00000495903.1_5'Flank	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	185					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		ATGGATGGTTGTAGCTTTATG	0.363																																					p.Q185K													.	.			0			c.C553A												115	107	110					10																	89544257		2203	4300	6503	SO:0001583	missense	84896	exon5			ATGGTTGTAGCTT	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.553C>A	10.37:g.89544257G>T	ENSP00000339017:p.Gln185Lys		126	0	0		98	0.04	4	NM_032810	29	0	0	D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	37	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042816	0.75732	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.35	5.35	0.76521	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.90266	0.6956	L	0.38175	1.15	0.80722	D	1	B;B	0.28667	0.062;0.219	B;B	0.37943	0.25;0.261	D	0.86461	0.1779	9	.	.	.	-6.5995	19.439	0.94809	0.0:0.0:1.0:0.0	.	127;185	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	K	185;185;127;185	ENSP00000339017:Q185K;ENSP00000339016:Q185K;ENSP00000412968:Q127K;ENSP00000445500:Q185K	.	Q	-	1	0	ATAD1	89534237	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	9.476000	0.97823	2.662000	0.90505	0.563000	0.77884	CAA			0.363	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049235.1		NM_032810		T	89544257	G	T	89544257	3	4	14	1	0	0	0	0	1	0	0	0	1070	1386	48	3	556	3	ATAD1	10	89544257	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	13488	89544257	45990490	20	888											
ZRANB1	54764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	126631712	126631712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatagccaaaggagatcacCtcctgctacgaagcgggact	13	7	10	11	2	1	1	1	0	0	1	2	4	2	2	3	2	4	1	3	2	5	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr10:126631712C>G	ENST00000359653.4	+	1	1021	c.650C>G	c.(649-651)cCt>cGt	p.P217R	RP11-298J20.4_ENST00000508096.1_RNA|RP11-298J20.3_ENST00000449984.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	217					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AGGAGATCACCTCCTGCTACG	0.453																																					p.P217R													.	.			0			c.C650G												61	61	61					10																	126631712		2203	4300	6503	SO:0001583	missense	54764	exon1			GATCACCTCCTGC	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.650C>G	10.37:g.126631712C>G	ENSP00000352676:p.Pro217Arg		88	0	0		72	0.14	10	NM_017580	21	0.24	5	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462928	0.63513	.	.	ENSG00000019995	ENST00000359653	T	0.17691	2.26	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	L	0.45581	1.43	0.80722	D	1	D	0.62365	0.991	P	0.58013	0.831	T	0.00385	-1.1773	10	0.25106	T	0.35	-25.0125	19.9346	0.97133	0.0:1.0:0.0:0.0	.	217	Q9UGI0	ZRAN1_HUMAN	R	217	ENSP00000352676:P217R	ENSP00000352676:P217R	P	+	2	0	ZRANB1	126621702	1.000000	0.71417	0.926000	0.36857	0.890000	0.51754	7.487000	0.81328	2.712000	0.92718	0.563000	0.77884	CCT			0.453	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050898.1		NM_017580		G	126631712	C	G	126631712	3	3	14	1	0	0	0	0	1	0	0	0	18245	681	24	5	652	5	ZRANB1	10	126631712	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	37087455	126631712	8903035	21	889											
MUC6	4588	bcgsc.ca	37	chr11	1016871	1016871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taggacctgtggaagagaagGgactgctccctgtaggtggg	9	8	17	7	0	0	1	0	0	0	1	1	5	1	4	2	5	1	2	2	5	4	2	rs554068781		TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr11:1016871G>T	ENST00000421673.2	-	31	5980	c.5930C>A	c.(5929-5931)cCc>cAc	p.P1977H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1977	Thr-rich.				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)		GGAAGAGAAGGGACTGCTCCC	0.587																																					p.P1977H													.	MUC6	408		0			c.C5930A												1308	1300	1302					11																	1016871		2203	4299	6502	SO:0001583	missense	4588	exon31			GAGAAGGGACTGC	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.5930C>A	11.37:g.1016871G>T	ENSP00000406861:p.Pro1977His		459	0.0217864924	10		393	0.03	12	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923756	0.34002	.	.	ENSG00000184956	ENST00000421673	T	0.18657	2.2	2.69	1.71	0.24356	.	.	.	.	.	T	0.14614	0.0353	L	0.29908	0.895	0.09310	N	1	B	0.29212	0.237	B	0.28553	0.091	T	0.22382	-1.0218	9	0.56958	D	0.05	.	7.0992	0.25327	0.0:0.0:0.7301:0.2699	.	1977	Q6W4X9	MUC6_HUMAN	H	1977	ENSP00000406861:P1977H	ENSP00000406861:P1977H	P	-	2	0	MUC6	1006871	0.015000	0.18098	0.001000	0.08648	0.026000	0.11368	1.250000	0.32850	0.416000	0.25844	0.306000	0.20318	CCC			0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		T	1016871	G	T	1016871	3	4	14	1	0	0	0	0	1	0	0	0	9996	1232	43	3	1401	3	MUC6	11	1016871	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10		1016871	133989645	22	890											
QSER1	79832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	32955965	32955965	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttccttaaatggaaatcAggttactgtgaacctttcac	12	14	6	9	0	2	1	2	1	0	0	3	2	3	2	2	2	3	1	2	2	6	5			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr11:32955965A>G	ENST00000399302.2	+	4	3109	c.2774A>G	c.(2773-2775)cAg>cGg	p.Q925R	QSER1_ENST00000527788.1_Missense_Mutation_p.Q686R	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	925										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)					AATGGAAATCAGGTTACTGTG	0.378																																					p.Q925R													.	.			0			c.A2774G												77	71	73					11																	32955965		1848	4096	5944	SO:0001583	missense	79832	exon4			GAAATCAGGTTAC	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.2774A>G	11.37:g.32955965A>G	ENSP00000382241:p.Gln925Arg		167	0	0		156	0.24	38	NM_001076786	1	1	1	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552436	0.65311	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.26957	2.03;1.7	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.51210	0.1661	M	0.69823	2.125	0.48236	D	0.999613	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.80764	0.986;0.994;0.986	T	0.53201	-0.8472	10	0.62326	D	0.03	.	15.9508	0.79835	1.0:0.0:0.0:0.0	.	686;686;925	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	R	925;686;686	ENSP00000382241:Q925R;ENSP00000432766:Q686R	ENSP00000078652:Q686R	Q	+	2	0	QSER1	32912541	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	6.778000	0.75043	2.170000	0.68504	0.459000	0.35465	CAG			0.378	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388448.1		NM_024774		G	32955965	A	G	32955965	3	3	14	1	0	0	0	0	1	0	0	0	12905	188	7	4	2780	4	QSER1	11	32955965	Missense_Mutation	SNP	A	TCGA-2G-AAFO-01A-31D-A42Y-10	31939094	32955965	102050551	23	891											
CHST1	8534	mdanderson.org	37	chr11	45671900	45671900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcacgcctcggccgccaCggtcaggttgagtagcccgc	5	5	15	16	6	1	1	1	1	0	0	2	1	1	1	4	4	1	3	4	4	1	2	rs147129669		TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr11:45671900C>T	ENST00000308064.2	-	4	1244	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	192					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCGGCCGCCACGGTCAGGTTG	0.711																																					p.V192M													.	.			0			c.G574A												24	24	24					11																	45671900		2199	4291	6490	SO:0001583	missense	8534	exon4			CCGCCACGGTCAG	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.574G>A	11.37:g.45671900C>T	ENSP00000309270:p.Val192Met		20	0	0		22	0.09	2	NM_003654	11	0	0	D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460205	0.12342	.	.	ENSG00000175264	ENST00000308064	T	0.81163	-1.46	4.98	0.228	0.15364	Sulfotransferase domain (1);	0.240843	0.34802	N	0.003666	T	0.51227	0.1662	N	0.10874	0.06	0.21878	N	0.999497	P	0.43477	0.808	B	0.35039	0.194	T	0.50988	-0.8762	10	0.30854	T	0.27	-1.2124	2.5019	0.04636	0.2322:0.2845:0.3841:0.0992	.	192	O43916	CHST1_HUMAN	M	192	ENSP00000309270:V192M	ENSP00000309270:V192M	V	-	1	0	CHST1	45628476	0.017000	0.18338	0.766000	0.31476	0.193000	0.23685	0.164000	0.16542	0.460000	0.27045	0.462000	0.41574	GTG			0.711	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390127.1		NM_003654		T	45671900	C	T	45671900	3	4	14	1	0	0	0	0	1	0	0	0	3399	536	19	1	665	1	CHST1	11	45671900	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	12715935	45671900	89334616	24	892											
DGKZ	8525	hgsc.bcm.edu	37	chr11	46394020	46394020	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggtatctcaatcccCgacaagtcttcgacctgagc	8	11	7	15	2	3	1	1	1	3	0	7	3	5	1	4	1	1	1	4	1	3	2			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr11:46394020C>A	ENST00000454345.1	+	12	1659	c.1534C>A	c.(1534-1536)Cga>Aga	p.R512R	DGKZ_ENST00000528615.1_Silent_p.R102R|DGKZ_ENST00000318201.8_Silent_p.R301R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Silent_p.R328R|DGKZ_ENST00000421244.2_Silent_p.R324R|DGKZ_ENST00000456247.2_Silent_p.R323R|DGKZ_ENST00000343674.6_Silent_p.R340R|DGKZ_ENST00000395574.3_Silent_p.R290R|DGKZ_ENST00000527911.1_Silent_p.R324R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	512	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Mediates interaction with RASGRP1.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCTCAATCCCCGACAAGTCTT	0.582																																					p.R512R													.	.			0			c.C1534A												93	76	82					11																	46394020		2202	4297	6499	SO:0001819	synonymous_variant	8525	exon12			AATCCCCGACAAG	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1534C>A	11.37:g.46394020C>A			135	0	0		100	0.04	4	NM_001105540	34	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	CCDS41640.1																																																																																					0.582	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000389772.1		NM_001105540		A	46394020	C	A	46394020	2	1	14	1	0	0	0	0	0	0	0	1	4479	644	23	1		1	DGKZ	11	46394020	Silent	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	722120	46394020	88612496	25	893											
SYVN1	84447	broad.mit.edu	37	chr11	64898172	64898173	+	Frame_Shift_Ins	INS	-	-	GG																															gtggtggggggtggggggcaINSgggggtggcccctgatccgc																										TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr11:64898172_64898173insGG	ENST00000377190.3	-	11	1158_1159	c.1064_1065insCC	c.(1063-1065)cctfs	p.P355fs	SYVN1_ENST00000294256.8_Frame_Shift_Ins_p.P355fs|SYVN1_ENST00000307289.6_Frame_Shift_Ins_p.P304fs|SYVN1_ENST00000526060.1_Frame_Shift_Ins_p.P355fs|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	355	Pro-rich.				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)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGTGGGGGGCAGGGGGTGGCCC	0.673																																					p.P355fs													.	SYVN1	55		0			c.1065_1066insCC																																									SO:0001589	frameshift_variant	84447	exon11			GGGGGCAGGGGGT	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1063_1064dupCC	11.37:g.64898175_64898176dupGG	ENSP00000366395:p.Pro355fs		23	0	0		18	0.39	7	NM_032431	7	0	0	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Frame_Shift_Ins	INS	ENST00000377190.3	37	CCDS31605.1																																																																																					0.673	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000385274.1		NM_032431		GG	64898173	-	GG	64898172	7	5	14	1	0	1	1	0	0	0	0	0	15510	175	7	0	812	0	SYVN1	11	64898172	Frame_Shift_Ins	INS	-	TCGA-2G-AAFO-01A-31D-A42Y-10	18504152	64898172	70108344	26	894											
EPS8	2059	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr12	15803897	15803897	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagccattgcggaatcGtggaacatatggtggaataa	12	9	11	9	2	0	0	0	0	0	0	2	3	1	3	2	4	3	0	2	4	5	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr12:15803897G>A	ENST00000281172.5	-	14	1730	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	EPS8_ENST00000542903.1_Nonsense_Mutation_p.R172*|EPS8_ENST00000540613.1_Nonsense_Mutation_p.R172*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.R432*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.R432*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	432	Pro-rich.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTGCGGAATCGTGGAACATAT	0.443																																					p.R432X													.	.			0			c.C1294T												125	123	124					12																	15803897		2203	4300	6503	SO:0001587	stop_gained	2059	exon14			GGAATCGTGGAAC	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1294C>T	12.37:g.15803897G>A	ENSP00000281172:p.Arg432*		259	0	0		461	0.05	25	NM_004447	9	0	0	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Nonsense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	39	7.438600	0.98286	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	.	.	.	5.52	3.63	0.41609	.	0.169902	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-14.1443	14.3841	0.66931	0.0:0.0:0.722:0.278	.	.	.	.	X	432;432;432;172;172;432	.	ENSP00000281172:R432X	R	-	1	2	EPS8	15695164	0.887000	0.30362	0.036000	0.18154	0.841000	0.47740	3.045000	0.49838	0.627000	0.30340	0.650000	0.86243	CGA			0.443	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401093.1				A	15803897	G	A	15803897	4	1	14	1	0	0	0	0	0	1	0	0	5201	1153	40	1	1206	1	EPS8	12	15803897	Nonsense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10		15803897	118047998	27	895											
EP400	57634	broad.mit.edu;mdanderson.org	37	chr12	132527894	132527894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggatgcccagaagtccGcacaggagggggtgctggga	10	4	19	8	1	0	1	0	0	0	1	1	5	1	5	2	6	2	2	2	6	1	0			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr12:132527894G>T	ENST00000333577.4	+	34	6470	c.6361G>T	c.(6361-6363)Gca>Tca	p.A2121S	EP400_ENST00000389562.2_Missense_Mutation_p.A2084S|EP400_ENST00000389561.2_Missense_Mutation_p.A2085S|EP400_ENST00000332482.4_Missense_Mutation_p.A2048S|EP400_ENST00000330386.6_Missense_Mutation_p.A2004S			Q96L91	EP400_HUMAN	E1A binding protein p400	2121					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGAAGTCCGCACAGGAGGG	0.483																																					p.A2085S													.	EP400	370		0			c.G6253T												89	80	83					12																	132527894		2203	4300	6503	SO:0001583	missense	57634	exon33			AAGTCCGCACAGG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6361G>T	12.37:g.132527894G>T	ENSP00000333602:p.Ala2121Ser		101	0	0		78	0.05	4	NM_015409	4	0	0	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	10.45	1.352851	0.24512	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.74	-11.5	0.00074	.	1.858220	0.02501	N	0.090517	T	0.68412	0.2998	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.08055	0.003;0.003;0.003	T	0.66077	-0.6013	10	0.40728	T	0.16	.	0.5557	0.00670	0.3504:0.2492:0.1511:0.2492	.	2085;2004;2084	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	S	2121;2085;2084;2048;2004;2085	ENSP00000333602:A2121S;ENSP00000374212:A2085S;ENSP00000374213:A2084S;ENSP00000331737:A2048S;ENSP00000330620:A2004S	ENSP00000330620:A2004S	A	+	1	0	EP400	131093847	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.510000	0.00959	-3.461000	0.00159	-0.302000	0.09304	GCA			0.483	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015409		T	132527894	G	T	132527894	3	4	14	1	0	0	0	0	1	0	0	0	5156	1087	38	1	6376	1	EP400	12	132527894	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	116723997	132527894	1324001	28	896											
SACS	26278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	23909053	23909053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaaaagacgtttcatgtCttcgtgaatgcaattgtaaa	14	13	9	5	2	2	2	1	1	1	1	3	2	2	2	0	1	1	4	0	1	6	5			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr13:23909053C>A	ENST00000382292.3	-	9	9235	c.8962G>T	c.(8962-8964)Gac>Tac	p.D2988Y	SACS_ENST00000382298.3_Missense_Mutation_p.D2988Y|SACS_ENST00000402364.1_Missense_Mutation_p.D2238Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2988					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)		CGTTTCATGTCTTCGTGAATG	0.368																																					p.D2988Y													.	.			0			c.G8962T												89	92	91					13																	23909053		2203	4299	6502	SO:0001583	missense	26278	exon10			TCATGTCTTCGTG	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.8962G>T	13.37:g.23909053C>A	ENSP00000371729:p.Asp2988Tyr		107	0	0		105	0.17	18	NM_014363	1	0	0	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705830	0.89018	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87729	-2.14;-2.29;-2.14	5.64	5.64	0.86602	.	0.050866	0.85682	D	0.000000	D	0.84124	0.5403	L	0.36672	1.1	0.58432	D	0.99999	P	0.36789	0.57	B	0.36885	0.235	D	0.85062	0.0935	10	0.72032	D	0.01	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	2988	Q9NZJ4	SACS_HUMAN	Y	2988;2238;2988	ENSP00000371729:D2988Y;ENSP00000385844:D2238Y;ENSP00000371735:D2988Y	ENSP00000371729:D2988Y	D	-	1	0	SACS	22807053	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.784000	0.68990	2.653000	0.90120	0.555000	0.69702	GAC			0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044148.3		NM_014363		A	23909053	C	A	23909053	3	1	14	1	0	0	0	0	1	0	0	0	13827	913	32	3	4781	3	SACS	13	23909053	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10		23909053	91260825	29	897											
EDDM3B	64184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	21238469	21238469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacaaatgtgatgtcctcAtgagagaaaatgaagctctg	15	10	10	6	0	2	4	1	3	1	1	3	5	3	4	1	0	2	2	1	0	5	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr14:21238469A>G	ENST00000326783.3	+	2	258	c.160A>G	c.(160-162)Atg>Gtg	p.M54V		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	54						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGATGTCCTCATGAGAGAAAA	0.388																																					p.M54V													.	.			0			c.A160G												109	104	106					14																	21238469		2203	4300	6503	SO:0001583	missense	64184	exon2			GTCCTCATGAGAG	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.160A>G	14.37:g.21238469A>G	ENSP00000314810:p.Met54Val		230	0	0		189	0.12	23	NM_022360	0		0	A0PK89	Missense_Mutation	SNP	ENST00000326783.3	37	CCDS9557.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500115	0.44455	.	.	ENSG00000181552	ENST00000326783	T	0.57595	0.39	4.05	4.05	0.47172	Ribonuclease A, domain (3);	0.000000	0.56097	D	0.000027	T	0.65133	0.2662	L	0.59436	1.845	0.32204	N	0.577464	D	0.69078	0.997	D	0.77004	0.989	T	0.72060	-0.4404	10	0.87932	D	0	.	9.3009	0.37845	1.0:0.0:0.0:0.0	.	54	P56851	EP3B_HUMAN	V	54	ENSP00000314810:M54V	ENSP00000314810:M54V	M	+	1	0	EDDM3B	20308309	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	1.459000	0.35234	1.686000	0.51046	0.459000	0.35465	ATG			0.388	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000073745.2				G	21238469	A	G	21238469	3	3	14	1	0	0	0	0	1	0	0	0	4915	217	8	4	162	4	EDDM3B	14	21238469	Missense_Mutation	SNP	A	TCGA-2G-AAFO-01A-31D-A42Y-10		21238469	86111071	30	898											
PSME2	5721	mdanderson.org	37	chr14	24612675	24612675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaattttctccaggttgctGctgatgatatgataaagctc	11	14	8	8	0	1	3	0	3	1	0	3	3	1	3	1	1	3	4	1	1	4	5			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr14:24612675G>T	ENST00000216802.5	-	11	1302	c.663C>A	c.(661-663)agC>agA	p.S221R	EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000216799.4_5'Flank|EMC9_ENST00000419198.2_5'Flank|EMC9_ENST00000560403.1_5'Flank|PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.S210R	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	221					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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CCAGGTTGCTGCTGATGATAT	0.478																																					p.S221R													.	.			0			c.C663A												103	99	100					14																	24612675		2203	4300	6503	SO:0001583	missense	5721	exon11			GTTGCTGCTGATG		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"Proteasome (prosome, macropain) subunits"	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.663C>A	14.37:g.24612675G>T	ENSP00000216802:p.Ser221Arg		99	0.0101010101	1		96	0.04	4	NM_002818	797	0	0	Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032554	0.75504	.	.	ENSG00000100911	ENST00000216802	T	0.43688	0.94	5.15	4.26	0.50523	Proteasome activator pa28, REG beta subunit (2);	0.291936	0.42294	D	0.000735	T	0.52901	0.1763	M	0.65975	2.015	0.43835	D	0.996417	D	0.56287	0.975	P	0.58577	0.841	T	0.49661	-0.8916	10	0.25106	T	0.35	-0.1967	9.8773	0.41211	0.0959:0.0:0.9041:0.0	.	221	Q9UL46	PSME2_HUMAN	R	221	ENSP00000216802:S221R	ENSP00000216802:S221R	S	-	3	2	PSME2	23682515	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.564000	0.53791	1.304000	0.44892	0.561000	0.74099	AGC			0.478	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071918.3		NM_002818		T	24612675	G	T	24612675	3	4	14	1	0	0	0	0	1	0	0	0	12727	1310	46	2	60	2	PSME2	14	24612675	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	3374206	24612675	82736865	31	899											
MAPKBP1	23005	mdanderson.org	37	chr15	42114620	42114620	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtggagctgctccaGgtgtggtcagagggccagca	7	7	17	10	0	1	1	1	0	0	1	2	2	2	2	3	5	3	3	3	5	0	0			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr15:42114620G>T	ENST00000456763.2	+	27	3443	c.3247G>T	c.(3247-3249)Ggg>Tgg	p.G1083W	MAPKBP1_ENST00000260357.7_Splice_Site_p.G916W|MAPKBP1_ENST00000457542.2_Splice_Site_p.G1077W|MAPKBP1_ENST00000221214.6_Splice_Site_p.G960W|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Splice_Site_p.G1077W	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1083										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)		AGCTGCTCCAGGTGTGGTCAG	0.597																																					p.G1083W													.	.			0			c.G3247T												29	29	29					15																	42114620		2203	4300	6503	SO:0001630	splice_region_variant	23005	exon27			GCTCCAGGTGTGG	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.3247+1G>T	15.37:g.42114620G>T			65	0	0		43	0.07	3	NM_001128608	2	0	0	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	18.99	3.739212	0.69304	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.53423	0.89;0.95;0.62;0.94;1.08	4.91	4.91	0.64330	.	0.166601	0.52532	D	0.000071	T	0.54727	0.1876	L	0.27053	0.805	0.45822	D	0.998696	D;D;D;D;D;D	0.89917	0.997;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.958;0.989;0.99;0.993;0.994;0.998	T	0.57723	-0.7762	10	0.72032	D	0.01	-19.6445	12.7101	0.57083	0.0:0.0:0.8349:0.1651	.	916;960;916;1077;1083;1077	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	W	1077;960;916;1083;1077	ENSP00000397570:G1077W;ENSP00000221214:G960W;ENSP00000260357:G916W;ENSP00000393099:G1083W;ENSP00000426154:G1077W	ENSP00000221214:G960W	G	+	1	0	MAPKBP1	39901912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.669000	0.68081	2.561000	0.86390	0.561000	0.74099	GGG			0.597	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000359745.1		NM_014994	Missense_Mutation	T	42114620	G	T	42114620	5	4	14	1	0	0	0	0	0	0	1	0	9308	1014	35	3	3349	3	MAPKBP1	15	42114620	Splice_Site	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10		42114620	60416772	32	900											
PIGQ	9091	hgsc.bcm.edu;bcgsc.ca	37	chr16	629151	629151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgttctgcgccagcgcGtggactcctgttcctatgac	6	10	12	13	4	1	1	0	1	1	0	3	3	3	3	3	2	3	2	3	2	2	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr16:629151G>A	ENST00000026218.5	+	7	1394	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	PIGQ_ENST00000321878.5_Missense_Mutation_p.V436M|PIGQ_ENST00000409527.2_Missense_Mutation_p.V436M	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	436	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCGCCAGCGCGTGGACTCCTG	0.647																																					p.V436M													.	.			0			c.G1306A												89	80	83					16																	629151		2201	4300	6501	SO:0001583	missense	9091	exon7			CAGCGCGTGGACT	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1306G>A	16.37:g.629151G>A	ENSP00000026218:p.Val436Met		108	0	0		121	0.05	6	NM_148920	28	0	0	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584657	0.86748	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	T;T;T	0.52754	0.65;0.65;1.94	5.8	4.85	0.62838	.	0.109437	0.64402	N	0.000008	T	0.64461	0.2600	L	0.57130	1.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.993;0.996;0.927	T	0.66810	-0.5829	10	0.59425	D	0.04	-36.1197	13.931	0.63996	0.0726:0.0:0.9274:0.0	.	450;436;436	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	M	436;436;436;21	ENSP00000386760:V436M;ENSP00000326674:V436M;ENSP00000026218:V436M	ENSP00000026218:V436M	V	+	1	0	PIGQ	569152	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	9.773000	0.98989	1.475000	0.48197	0.655000	0.94253	GTG			0.647	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000239270.2		NM_004204		A	629151	G	A	629151	3	1	14	1	0	0	0	0	1	0	0	0	11913	1145	40	1	1328	1	PIGQ	16	629151	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10		629151	89725602	33	901											
PKD1	5310	mdanderson.org	37	chr16	2152493	2152493	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtctcctccaggggcagCagcccctctgtccgccacac	6	6	11	18	1	2	0	0	0	2	0	5	1	4	0	6	3	2	2	6	3	0	0			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr16:2152493C>T	ENST00000262304.4	-	25	9298	c.9090G>A	c.(9088-9090)ctG>ctA	p.L3030L	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.L3030L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3030	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.		Missing (in PKD1). {ECO:0000269|PubMed:11857740}.		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						CCAGGGGCAGCAGCCCCTCTG	0.697																																					p.L3030L													.	.			0			c.G9090A												10	11	11					16																	2152493		2147	4249	6396	SO:0001819	synonymous_variant	5310	exon25			GGGCAGCAGCCCC	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.9090G>A	16.37:g.2152493C>T			36	0	0		32	0.09	3	NM_001009944	16	0	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																					0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341688.1				T	2152493	C	T	2152493	2	4	14	1	0	0	0	0	0	0	0	1	11980	697	25	2		2	PKD1	16	2152493	Silent	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	1523342	2152493	88202260	34	902											
RPH3AL	9501	broad.mit.edu	37	chr17	171132	171133	+	In_Frame_Ins	INS	-	-	CCG																															ctgcaggatggcctccacctINSccgccgggctgaggtgctgc																										TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr17:171132_171133insCCG	ENST00000331302.7	-	4	458_459	c.151_152insCGG	c.(151-153)gag>gCGGag	p.50_51insA	RPH3AL_ENST00000536489.2_In_Frame_Ins_p.50_51insA|RPH3AL_ENST00000323434.8_In_Frame_Ins_p.50_51insA|RP11-1260E13.1_ENST00000570501.1_RNA|RP11-1260E13.1_ENST00000572998.1_RNA|RPH3AL_ENST00000576001.1_5'Flank	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	50	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GGCCTCCACCTCCGCCGGGCTG	0.673																																					p.E51delinsAE													.	RPH3AL	18		0			c.152_153insCGG																																									SO:0001652	inframe_insertion	9501	exon4			TCCACCTCCGCCG		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.149_151dupCGG	17.37:g.171136_171138dupCCG	ENSP00000328977:p.Ala50_Ala50dup		62	0	0		59	0.12	7	NM_006987	1	0	0	D3DTG7|Q9BSB3	In_Frame_Ins	INS	ENST00000331302.7	37	CCDS10994.1																																																																																					0.673	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206597.2		NM_006987		CCG	171133	-	CCG	171132	7	5	14	1	0	1	1	0	0	0	0	0	13575	1551	54	0	823	0	RPH3AL	17	171132	In_Frame_Ins	INS	-	TCGA-2G-AAFO-01A-31D-A42Y-10		171132	81024078	35	903											
KIAA0664	23277	mdanderson.org	37	chr17	2595123	2595123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgcgctgcagggccaCggcctgctgggtcaggcact	5	7	16	13	2	1	0	1	0	0	0	1	0	1	0	2	5	3	4	2	5	0	0			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr17:2595123C>T	ENST00000570628.2	-	24	3709	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	CLUH_ENST00000538975.1_Missense_Mutation_p.V1202M|CLUH_ENST00000435359.1_Missense_Mutation_p.V1202M|RP11-74E22.6_ENST00000608984.1_lincRNA			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1202					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TGCAGGGCCACGGCCTGCTGG	0.692																																					p.V1202M													.	.			0			c.G3604A												22	24	23					17																	2595123		2056	4189	6245	SO:0001583	missense	23277	exon24			GGGCCACGGCCTG	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3604G>A	17.37:g.2595123C>T	ENSP00000458986:p.Val1202Met		42	0	0		50	0.06	3	NM_015229	186	0	0	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553070	0.86127	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.84070	-1.8;-1.8	5.56	3.42	0.39159	Tetratricopeptide-like helical (1);	0.142130	0.47852	D	0.000202	D	0.89955	0.6865	M	0.80332	2.49	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.90652	0.4583	10	0.87932	D	0	.	11.2491	0.49015	0.1432:0.7189:0.1379:0.0	.	1202;1203	O75153;C9J6D7	K0664_HUMAN;.	M	1202;1203;1202	ENSP00000388872:V1202M;ENSP00000439628:V1202M	ENSP00000320468:V1203M	V	-	1	0	KIAA0664	2541873	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	4.915000	0.63355	1.306000	0.44926	0.655000	0.94253	GTG			0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437807.2		NM_015229		T	2595123	C	T	2595123	3	4	14	1	0	0	0	0	1	0	0	0	8204	536	19	1	337	1	KIAA0664	17	2595123	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	2423991	2595123	78600087	36	904											
PITPNM3	83394	mdanderson.org	37	chr17	6358884	6358884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccttgcgcaggatcatgCgcgagttgttcttctttggg	4	14	13	10	3	3	0	1	0	2	0	3	2	3	1	1	2	3	3	1	2	0	5			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr17:6358884C>T	ENST00000262483.8	-	20	2786	c.2699G>A	c.(2698-2700)cGc>cAc	p.R900H	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R864H	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	900					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)		CAGGATCATGCGCGAGTTGTT	0.677																																					p.R900H													.	.			0			c.G2699A												25	29	27					17																	6358884		2196	4298	6494	SO:0001583	missense	83394	exon20			ATCATGCGCGAGT	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.2699G>A	17.37:g.6358884C>T	ENSP00000262483:p.Arg900His		35	0	0		34	0.09	3	NM_031220	0		0	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546875	0.96488	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.55413	0.52;0.52	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	M	0.83774	2.66	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.79288	-0.1865	10	0.87932	D	0	.	15.693	0.77469	0.0:1.0:0.0:0.0	.	864;900	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	900;864	ENSP00000262483:R900H;ENSP00000407882:R864H	ENSP00000262483:R900H	R	-	2	0	PITPNM3	6299608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.722000	0.84778	2.371000	0.80710	0.505000	0.49811	CGC			0.677	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000219824.2		NM_031220		T	6358884	C	T	6358884	3	4	14	1	0	0	0	0	1	0	0	0	11969	768	27	1	229	1	PITPNM3	17	6358884	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	3763761	6358884	74836326	37	905											
ARSG	22901	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	66339910	66339910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggtgctgcagcaggcGggttacgtcactgggataat	9	8	16	8	2	1	1	1	0	0	1	1	2	1	2	0	4	4	5	0	4	2	2			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr17:66339910G>A	ENST00000448504.2	+	3	1180	c.384G>A	c.(382-384)gcG>gcA	p.A128A	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	128					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)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCAGCAGGCGGGTTACGTCA	0.562																																					p.A128A													ARSG,colon,carcinoma,+1,1	ARSG	1	1	0			c.G384A												66	47	54					17																	66339910		2203	4300	6503	SO:0001819	synonymous_variant	22901	exon3			GCAGGCGGGTTAC	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.384G>A	17.37:g.66339910G>A			100	0	0		117	0.05	6	NM_001267727	0		0	Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	CCDS11676.1																																																																																					0.562	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448369.1		NM_014960		A	66339910	G	A	66339910	2	1	14	1	0	0	0	0	0	0	0	1	992	1103	39	1		1	ARSG	17	66339910	Silent	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	59981026	66339910	14855300	38	906											
RAB37	326624	mdanderson.org	37	chr17	72733227	72733227	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccttcacgcagaccctgCggctctgcgtgccctcaggg	4	7	12	18	3	3	1	2	0	1	1	3	1	3	1	4	2	3	2	4	2	0	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr17:72733227C>T	ENST00000392613.5	+	0	0				RAB37_ENST00000392610.1_5'Flank|RAB37_ENST00000528438.1_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.R27W|RAB37_ENST00000392612.3_5'Flank|RAB37_ENST00000392615.5_Missense_Mutation_p.R27W	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family						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						GCAGACCCTGCGGCTCTGCGT	0.721																																					p.R27W													.	.			0			c.C79T												12	15	14					17																	72733227		1559	3571	5130	SO:0001631	upstream_gene_variant	326624	exon1			ACCCTGCGGCTCT	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		17.37:g.72733227C>T	Exception_encountered		41	0	0		45	0.07	3	NM_001163989	1	0	0	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383881	0.25031	.	.	ENSG00000172794	ENST00000392615;ENST00000392614	T;T	0.64260	0.3;-0.09	3.16	-6.18	0.02085	.	0.316889	0.27768	N	0.017929	T	0.37785	0.1016	.	.	.	0.09310	N	0.999996	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.12734	-1.0536	9	0.72032	D	0.01	.	0.692	0.00893	0.2072:0.1589:0.3238:0.31	.	27;27	A8MZI4;A8MYT0	.;.	W	27	ENSP00000376391:R27W;ENSP00000376390:R27W	ENSP00000376390:R27W	R	+	1	2	RAB37	70244822	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.399000	0.01050	-1.514000	0.01786	0.462000	0.41574	CGG			0.721	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258872.2		NM_175738		T	72733227	C	T	72733227	1	4	14	0	1	0	0	0	0	0	0	0	12950	759	27	1		1	RAB37	17	72733227	5'Flank	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	6393317	72733227	8461983	39	907											
SLC38A10	124565	mdanderson.org	37	chr17	79257226	79257226	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaaacccgaacagccGggcaaagaagttggacccca	14	4	10	13	2	0	2	0	1	0	1	0	4	0	3	5	2	4	2	5	2	5	2	rs141775697	byFrequency	TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr17:79257226G>T	ENST00000374759.3	-	4	723	c.340C>A	c.(340-342)Cgg>Agg	p.R114R	SLC38A10_ENST00000546352.1_5'Flank|SLC38A10_ENST00000288439.5_Silent_p.R114R	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	114					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGAACAGCCGGGCAAAGAAG	0.612																																					p.R114R													.	.			0			c.C340A												83	57	66					17																	79257226		2201	4299	6500	SO:0001819	synonymous_variant	124565	exon4			ACAGCCGGGCAAA	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.340C>A	17.37:g.79257226G>T			52	0	0		59	0.05	3	NM_001037984	21	0	0	Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																					0.612	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397747.1		NM_138570		T	79257226	G	T	79257226	2	4	14	1	0	0	0	0	0	0	0	1	14625	1115	39	1		1	SLC38A10	17	79257226	Silent	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	6523999	79257226	1937984	40	908											
MRI1	84245	mdanderson.org	37	chr19	13879176	13879176	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcctttaaacagacgTgaaacggagctatgcgagca	13	8	12	8	3	0	2	0	1	0	1	1	4	1	3	1	2	5	2	1	2	4	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr19:13879176T>C	ENST00000319545.8	+	3	432	c.375T>C	c.(373-375)cgT>cgC	p.R125R	MRI1_ENST00000040663.6_Intron	NM_032285.2	NP_115661.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						taaacagacgtgaaacggagc	0.532																																					p.R125R													.	.			0			c.T375C												51	45	47					19																	13879176		1978	3867	5845	SO:0001819	synonymous_variant	84245	exon3			CAGACGTGAAACG		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"mediator of RhoA-dependent invasion", "S-methyl-5-thioribose-1-phosphate isomerase 1"	615105	"methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000319545.8:c.375T>C	19.37:g.13879176T>C			58	0	0		55	0.05	3	NM_032285	16	0	0		Silent	SNP	ENST00000319545.8	37	CCDS12297.1																																																																																					0.532	MRI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000453422.1		NM_032285		C	13879176	T	C	13879176	2	2	14	1	0	0	0	0	0	0	0	1	9786	1683	59	4		4	MRI1	19	13879176	Silent	SNP	T	TCGA-2G-AAFO-01A-31D-A42Y-10		13879176	45249807	41	909											
PSG4	5672	mdanderson.org	37	chr19	43699297	43699297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccctgggactgacagggaGgctctgaccatttagccacc	9	8	11	13	0	1	2	0	2	1	0	1	4	1	4	4	3	2	1	4	3	2	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr19:43699297G>T	ENST00000405312.3	-	4	1075	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.L187I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	280	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTGACAGGGAGGCTCTGACCA	0.438																																					p.P280T													.	.			0			c.C838A												232	232	232					19																	43699297		2202	4290	6492	SO:0001583	missense	5672	exon4			CAGGGAGGCTCTG		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.838C>A	19.37:g.43699297G>T	ENSP00000384770:p.Leu280Ile		58	0	0		50	0.06	3	NM_002780	0		0	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	g	10.66	1.413749	0.25465	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.13420	2.59;2.59	1.61	1.61	0.23674	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33030	0.0849	M	0.77820	2.39	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.04017	-1.0984	9	0.54805	T	0.06	.	6.6292	0.22847	0.0:0.0:1.0:0.0	.	187;280	E7EX79;Q00888	.;PSG4_HUMAN	I	280;187	ENSP00000384770:L280I;ENSP00000387864:L187I	ENSP00000384770:L280I	L	-	1	0	PSG4	48391137	0.004000	0.15560	0.105000	0.21289	0.036000	0.12997	0.060000	0.14342	0.877000	0.35895	0.524000	0.50904	CTC			0.438	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323073.1		NM_213633		T	43699297	G	T	43699297	3	4	14	1	0	0	0	0	1	0	0	0	12677	1000	35	3	433	3	PSG4	19	43699297	Missense_Mutation	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	29820121	43699297	15429686	42	910											
SYMPK	8189	broad.mit.edu	37	chr19	46321272	46321272	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaagccccccaggcgggggTacatggtcagggactggatg	8	5	17	11	2	1	0	1	0	0	0	1	3	1	2	3	6	2	1	3	6	2	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr19:46321272T>G	ENST00000245934.7	-	23	3270	c.3026A>C	c.(3025-3027)tAc>tCc	p.Y1009S	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000221538.3_5'Flank|RSPH6A_ENST00000597055.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1009					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGCGGGGGTACATGGTCAG	0.637																																					p.Y1009S													.	SYMPK	104		0			c.A3026C												46	38	41					19																	46321272		2196	4295	6491	SO:0001583	missense	8189	exon23			CGGGGGTACATGG	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3026A>C	19.37:g.46321272T>G	ENSP00000245934:p.Tyr1009Ser		78	0.1538461538	12		86	0.22	19	NM_004819	255	0.04	9	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683927	0.88639	.	.	ENSG00000125755	ENST00000245934	T	0.65916	-0.18	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.80325	0.4602	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.83582	0.0118	10	0.72032	D	0.01	.	13.295	0.60292	0.0:0.0:0.0:1.0	.	1009	Q92797	SYMPK_HUMAN	S	1009	ENSP00000245934:Y1009S	ENSP00000245934:Y1009S	Y	-	2	0	SYMPK	51013112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.467000	0.80930	2.039000	0.60335	0.454000	0.30748	TAC			0.637	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316581.1		NM_004819		G	46321272	T	G	46321272	3	3	14	1	0	0	0	0	1	0	0	0	15462	1638	57	4	818	4	SYMPK	19	46321272	Missense_Mutation	SNP	T	TCGA-2G-AAFO-01A-31D-A42Y-10	2621975	46321272	12807711	43	911											
GRWD1	83743	mdanderson.org	37	chr19	48956276	48956276	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatcttccgcaccatcagCgtctgaggcgtcccactggc	7	8	9	17	3	3	1	1	1	2	0	5	1	5	1	4	2	1	1	4	2	0	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr19:48956276C>T	ENST00000253237.5	+	7	1568	c.1335C>T	c.(1333-1335)agC>agT	p.S445S	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	445						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		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;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCACCATCAGCGTCTGAGGCG	0.602																																					p.S445S													.	.			0			c.C1335T												33	36	35					19																	48956276		2203	4289	6492	SO:0001819	synonymous_variant	83743	exon7			CATCAGCGTCTGA	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1335C>T	19.37:g.48956276C>T			63	0	0		58	0.05	3	NM_031485	109	0	0	Q8TF59	Silent	SNP	ENST00000253237.5	37	CCDS12720.1																																																																																					0.602	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466122.1		NM_031485		T	48956276	C	T	48956276	2	4	14	1	0	0	0	0	0	0	0	1	6826	767	27	1		1	GRWD1	19	48956276	Silent	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10	2635004	48956276	10172707	44	912											
AHCY	191	mdanderson.org	37	chr20	32868923	32868923	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctcagttagcttggtcaActtcacattcagcttgccca	8	14	6	13	0	4	0	4	0	1	0	5	0	4	0	1	1	4	3	1	1	2	6			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr20:32868923A>G	ENST00000217426.2	-	10	1293	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	AHCY_ENST00000538132.1_Silent_p.L378L|RP4-785G19.5_ENST00000512005.1_RNA|CTD-3216D2.5_ENST00000609218.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	406					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTTGGTCAACTTCACATTC	0.557																																					p.L406L													.	.			0			c.T1216C												80	64	69					20																	32868923		2203	4300	6503	SO:0001819	synonymous_variant	191	exon10			TGGTCAACTTCAC	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"S-adenosylhomocysteine hydrolase"			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1216T>C	20.37:g.32868923A>G			49	0	0		66	0.05	3	NM_000687	627	0	1	A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	CCDS13233.1																																																																																					0.557	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078773.2		NM_000687		G	32868923	A	G	32868923	2	3	14	1	0	0	0	0	0	0	0	1	409	40	2	4		4	AHCY	20	32868923	Silent	SNP	A	TCGA-2G-AAFO-01A-31D-A42Y-10		32868923	30156597	45	913											
L3MBTL	26013	broad.mit.edu	37	chr20	42169675	42169675	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcatcttcaggaaggaaaAggcatcctggagacaggagt	14	7	13	7	0	3	1	2	0	1	1	4	6	4	4	1	5	0	1	1	5	3	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr20:42169675A>G	ENST00000427442.2	+	22	2589	c.2430A>G	c.(2428-2430)aaA>aaG	p.K810K	L3MBTL1_ENST00000373135.3_Silent_p.K742K|L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000418998.1_Silent_p.K810K|L3MBTL1_ENST00000444063.1_3'UTR			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGGAAGGAAAAGGCATCCTGG	0.478																																					p.K810K													.	L3MBTL1	105		0			c.A2430G												173	142	152					20																	42169675		2203	4300	6503	SO:0001819	synonymous_variant	26013	exon22			AGGAAAAGGCATC	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2430A>G	20.37:g.42169675A>G			132	0	0		145	0.03	4	NM_032107	11	0	0	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	CCDS46602.2																																																																																					0.478	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079300.3		NM_032107		G	42169675	A	G	42169675	2	3	14	1	0	0	0	0	0	0	0	1	8606	69	3	4		4	L3MBTL	20	42169675	Silent	SNP	A	TCGA-2G-AAFO-01A-31D-A42Y-10	9300752	42169675	20855845	46	914											
ZNF512B	57473	mdanderson.org	37	chr20	62594604	62594604	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcccatgaggctggagaaGgcagccccgcaaccctgggg	9	4	15	13	1	0	2	0	1	0	1	0	3	0	2	4	5	3	3	4	5	3	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr20:62594604G>T	ENST00000450537.1	-	12	1872	c.1812C>A	c.(1810-1812)gcC>gcA	p.A604A	ZNF512B_ENST00000217130.3_Silent_p.A604A|ZNF512B_ENST00000369888.1_Silent_p.A604A			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	604					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)					GGCTGGAGAAGGCAGCCCCGC	0.721																																					p.A604A													.	.			0			c.C1812A												15	11	12					20																	62594604		2118	4199	6317	SO:0001819	synonymous_variant	57473	exon12			GGAGAAGGCAGCC	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.1812C>A	20.37:g.62594604G>T			17	0	0		19	0.11	2	NM_020713	5	0	0	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																					0.721	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080246.1		NM_020713		T	62594604	G	T	62594604	2	4	14	1	0	0	0	0	0	0	0	1	17980	987	35	3		3	ZNF512B	20	62594604	Silent	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	20424929	62594604	430916	47	915											
SOX18	54345	mdanderson.org	37	chr20	62680648	62680648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccgcctggcgttccccGcggccggccgggctgaggcc	1	6	16	18	6	1	1	0	1	1	0	2	1	2	1	7	5	1	2	7	5	0	1			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr20:62680648G>A	ENST00000340356.7	-	1	346	c.222C>T	c.(220-222)cgC>cgT	p.R74R	ZNF512B_ENST00000450537.1_5'Flank	NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	74					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|cell maturation (GO:0048469)|embryonic heart tube development (GO:0035050)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|establishment of endothelial barrier (GO:0061028)|hair cycle process (GO:0022405)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|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 transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell proliferation (GO:0072091)|stem cell fate specification (GO:0048866)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)	nuclear chromatin (GO:0000790)|nuclear transcription factor complex (GO:0044798)|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)|transcription regulatory region DNA binding (GO:0044212)			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGCGTTCCCCGCGGCCGGCCG	0.776																																					p.R74R	GBM(27;64 690 17108 39708)												.	.			0			c.C222T												15	18	17					20																	62680648		2162	4221	6383	SO:0001819	synonymous_variant	54345	exon1			TTCCCCGCGGCCG	AB033888	CCDS13552.1	20q13.33	2008-07-28			ENSG00000203883	ENSG00000203883		"SRY (sex determining region Y)-boxes"	11194	protein-coding gene	gene with protein product		601618				10807548	Standard	NM_018419		Approved		uc002yhs.3	P35713	OTTHUMG00000033017	ENST00000340356.7:c.222C>T	20.37:g.62680648G>A			36	0	0		43	0.07	3	NM_018419	20	0	0	Q0VGA9|Q9NPH8	Silent	SNP	ENST00000340356.7	37	CCDS13552.1																																																																																					0.776	SOX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080265.1				A	62680648	G	A	62680648	2	1	14	1	0	0	0	0	0	0	0	1	14971	1074	38	1		1	SOX18	20	62680648	Silent	SNP	G	TCGA-2G-AAFO-01A-31D-A42Y-10	86044	62680648	344872	48	916											
PHF21B	112885	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr22	45279175	45279175	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaggcttgtcttcaactCcaggcatttctgttggggag	7	12	12	10	0	3	0	1	0	2	0	4	1	4	1	1	4	2	4	1	4	1	4			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chr22:45279175C>A	ENST00000313237.5	-	13	1537	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	PHF21B_ENST00000404079.2_Nonsense_Mutation_p.E409*|PHF21B_ENST00000396103.3_Nonsense_Mutation_p.E421*|PHF21B_ENST00000403565.1_Nonsense_Mutation_p.E259*	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	463							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GTCTTCAACTCCAGGCATTTC	0.642																																					p.E463X													.	PHF21B	61		0			c.G1387T												35	40	39					22																	45279175		2203	4300	6503	SO:0001587	stop_gained	112885	exon13			TCAACTCCAGGCA	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.1387G>T	22.37:g.45279175C>A	ENSP00000324403:p.Glu463*		41	0	0		38	0.13	5	NM_138415	2	0	0	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Nonsense_Mutation	SNP	ENST00000313237.5	37	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	c	35	5.540177	0.96474	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079	.	.	.	3.49	3.49	0.39957	.	0.192724	0.32401	U	0.006142	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.5365	15.2285	0.73369	0.0:1.0:0.0:0.0	.	.	.	.	X	259;463;421;409	.	ENSP00000324403:E463X	E	-	1	0	PHF21B	43657839	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.770000	0.74990	1.789000	0.52484	0.299000	0.19835	GAG			0.642	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000321731.2		NM_138415		A	45279175	C	A	45279175	4	1	14	1	0	0	0	0	0	1	0	0	11851	864	30	3	212	3	PHF21B	22	45279175	Nonsense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10		45279175	6025391	49	917											
HMGN5	79366	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	80370324	80370324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctttgacttttacatCtttcccctcttttttatctc	5	23	1	12	0	5	1	0	1	5	0	7	1	6	1	2	0	1	0	2	0	2	8			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chrX:80370324C>A	ENST00000358130.2	-	7	1001	c.673G>T	c.(673-675)Gat>Tat	p.D225Y	HMGN5_ENST00000491275.1_5'Flank	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	225					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						acttttacatctttcccctct	0.353																																					p.D225Y													.	HMGN5	29		0			c.G673T												325	287	301					X																	80370324		1627	2886	4513	SO:0001583	missense	79366	exon7			TTACATCTTTCCC	AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"High-mobility group / Canonical"	8013	protein-coding gene	gene with protein product		300385	"nucleosomal binding protein 1", "high-mobility group nucleosome binding domain 5"	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.673G>T	X.37:g.80370324C>A	ENSP00000350848:p.Asp225Tyr		256	0	0		329	0.03	11	NM_030763	32	0	0	Q5JSL1	Missense_Mutation	SNP	ENST00000358130.2	37	CCDS14448.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465547	0.26335	.	.	ENSG00000198157	ENST00000358130	.	.	.	3.61	3.61	0.41365	.	0.458443	0.16055	N	0.231772	T	0.20495	0.0493	N	0.08118	0	0.09310	N	1	P	0.47350	0.894	P	0.46543	0.52	T	0.05500	-1.0881	9	0.87932	D	0	.	9.805	0.40789	0.0:1.0:0.0:0.0	.	225	P82970	HMGN5_HUMAN	Y	225	.	ENSP00000350848:D225Y	D	-	1	0	HMGN5	80256980	0.000000	0.05858	0.108000	0.21378	0.022000	0.10575	-0.702000	0.05069	2.063000	0.61619	0.538000	0.68166	GAT			0.353	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057354.1		NM_030763		A	80370324	C	A	80370324	3	1	14	1	0	0	0	0	1	0	0	0	7253	913	32	3	179	3	HMGN5	23	80370324	Missense_Mutation	SNP	C	TCGA-2G-AAFO-01A-31D-A42Y-10		80370324	74900236	50	918											
ELF4	2000	broad.mit.edu	37	chrX	129215228	129215228	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctgttctctggggccatAcctggtggatatcatcatcc	6	13	10	12	0	4	0	2	0	2	0	6	1	5	1	3	4	1	2	3	4	2	3			TCGA-2G-AAFO-01A-31D-A42Y-10	TCGA-2G-AAFO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0182096a-fcfd-4c9a-837f-e329734c86f8	2a0fd75c-32f0-4393-a404-dd5568031036	g.chrX:129215228A>G	ENST00000308167.5	-	2	455		c.e2+1		ELF4_ENST00000335997.7_Splice_Site	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						CTGGGGCCATACCTGGTGGAT	0.537			T	ERG	AML																																.				Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	ELF4	67		0			c.75+2T>C												231	174	193					X																	129215228		2203	4300	6503	SO:0001630	splice_region_variant	2000	exon3			GGCCATACCTGGT	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.75+1T>C	X.37:g.129215228A>G			148	0	0		189	0.02	3	NM_001421	0		0		Splice_Site	SNP	ENST00000308167.5	37	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306633	0.60305	.	.	ENSG00000102034	ENST00000335997;ENST00000308167;ENST00000434609	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2975	0.37824	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELF4	129042909	1.000000	0.71417	0.992000	0.48379	0.909000	0.53808	6.101000	0.71479	1.523000	0.49018	0.356000	0.21956	.			0.537	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058243.1		NM_001421	Intron	G	129215228	A	G	129215228	5	3	14	1	0	0	0	0	0	0	1	0	5063	405	14	4	1946	4	ELF4	23	129215228	Splice_Site	SNP	A	TCGA-2G-AAFO-01A-31D-A42Y-10	48844904	129215228	26055332	51	919											
KIF1B	23095	broad.mit.edu	37	chr1	10342466	10342466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttttccacagcatccatgGggtccctcacttcatcccca	8	12	5	16	0	2	0	2	0	0	0	6	0	6	0	5	2	1	1	5	2	0	3			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:10342466G>A	ENST00000377086.1	+	15	1511	c.1309G>A	c.(1309-1311)Ggg>Agg	p.G437R	KIF1B_ENST00000263934.6_Missense_Mutation_p.G391R|KIF1B_ENST00000377083.1_Missense_Mutation_p.G391R|KIF1B_ENST00000377093.4_Missense_Mutation_p.G391R|KIF1B_ENST00000377081.1_Missense_Mutation_p.G437R			O60333	KIF1B_HUMAN	kinesin family member 1B	437					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)		AGCATCCATGGGGTCCCTCAC	0.478																																					p.G391R													.	KIF1B	242		0			c.G1171A												133	122	126					1																	10342466		2203	4300	6503	SO:0001583	missense	23095	exon13			TCCATGGGGTCCC	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.1309G>A	1.37:g.10342466G>A	ENSP00000366290:p.Gly437Arg		157	0	0		166	0.03	5	NM_183416	13	0.08	1	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	17.50	3.404819	0.62288	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.73789	-0.63;-0.78;-0.57;-0.78;-0.58	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	N	0.19112	0.55	0.54753	D	0.999984	B;P;P;D;B;B;P	0.57257	0.003;0.612;0.528;0.979;0.201;0.343;0.889	B;B;B;B;B;B;P	0.50314	0.002;0.171;0.101;0.381;0.034;0.225;0.637	T	0.60855	-0.7180	10	0.16420	T	0.52	.	12.8703	0.57960	0.0745:0.0:0.9255:0.0	.	423;397;437;411;437;391;391	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	R	437;391;391;437;391;437	ENSP00000263934:G391R;ENSP00000366297:G391R;ENSP00000366290:G437R;ENSP00000366287:G391R;ENSP00000366284:G437R	ENSP00000263934:G391R	G	+	1	0	KIF1B	10265053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.713000	0.92767	0.650000	0.86243	GGG			0.478	KIF1B-001	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000005102.1	rescued with RNA-seq			A	10342466	G	A	10342466	3	1	15	1	0	0	0	0	1	0	0	0	8299	1232	43	3	1217	3	KIF1B	1	10342466	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10		10342466	238908155	1	920											
C1orf38	9473	bcgsc.ca	37	chr1	28206532	28206532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggcattccctgatcctgCggccccagtatgagatccaa	8	9	9	15	1	0	2	0	2	0	1	3	3	3	2	6	2	1	2	6	2	2	2	rs550315014		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:28206532C>T	ENST00000373921.3	+	3	617	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	THEMIS2_ENST00000373925.1_Missense_Mutation_p.R205W|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.R205W	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	205	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCTGATCCTGCGGCCCCAGTA	0.627																																					p.R205W													.	.			0			c.C613T												38	33	35					1																	28206532		2203	4300	6503	SO:0001583	missense	9473	exon3			ATCCTGCGGCCCC	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.613C>T	1.37:g.28206532C>T	ENSP00000363031:p.Arg205Trp		138	0	0		104	0.06	6	NM_004848	19	0	0	A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888443	0.33348	.	.	ENSG00000130775	ENST00000373925;ENST00000328928;ENST00000373921	T;T;T	0.14391	2.51;2.51;2.51	4.81	0.99	0.19807	.	1.013840	0.07899	N	0.972325	T	0.29423	0.0733	L	0.57536	1.79	0.09310	N	1	D;D;D	0.76494	0.996;0.999;0.999	P;D;D	0.69654	0.736;0.965;0.941	T	0.15694	-1.0428	10	0.72032	D	0.01	-4.4009	7.1895	0.25818	0.4938:0.3813:0.0:0.1248	.	205;205;205	Q5TEJ8-5;Q5TEJ8;Q5TEJ8-2	.;THMS2_HUMAN;.	W	205	ENSP00000363035:R205W;ENSP00000329862:R205W;ENSP00000363031:R205W	ENSP00000329862:R205W	R	+	1	2	C1orf38	28079119	0.001000	0.12720	0.082000	0.20525	0.078000	0.17371	-0.064000	0.11636	0.791000	0.33826	-0.410000	0.06199	CGG			0.627	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011148.1		NM_004848		T	28206532	C	T	28206532	3	4	15	1	0	0	0	0	1	0	0	0	2041	759	27	1	623	1	C1orf38	1	28206532	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	17864066	28206532	221044089	2	921											
COL16A1	1307	mdanderson.org	37	chr1	32137261	32137261	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcatgccaggcggaccCtgcaaaggaagccaagggaa	12	3	12	14	1	1	0	1	0	0	0	1	3	1	3	5	4	3	1	5	4	4	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:32137261C>A	ENST00000373672.3	-	48	3622		c.e48-1		COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						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)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGGCGGACCCTGCAAAGGAA	0.602																																					.	Colon(143;498 1786 21362 25193 36625)												.	.			0			c.3106-1G>T												42	49	47					1																	32137261		1903	4120	6023	SO:0001630	splice_region_variant	1307	exon49			CGGACCCTGCAAA	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3106-1G>T	1.37:g.32137261C>A			94	0	0		87	0.05	4	NM_001856	7	0	0	Q16593|Q59F89|Q71RG9	Splice_Site	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827320	0.71143	.	.	ENSG00000084636	ENST00000373672;ENST00000271069	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6242	0.68608	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL16A1	31909848	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.679000	0.46909	2.599000	0.87857	0.655000	0.94253	.			0.602	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011057.2		NM_001856	Intron	A	32137261	C	A	32137261	5	1	15	1	0	0	0	0	0	0	1	0	3675	695	24	3	1805	3	COL16A1	1	32137261	Splice_Site	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	3930729	32137261	217113360	3	922											
PTPRF	5792	mdanderson.org	37	chr1	44085236	44085236	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaccgccatggagctcGagttcaaggtggggctcggg	6	8	18	9	3	1	1	1	1	0	0	3	3	1	2	2	5	1	3	2	5	1	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:44085236G>T	ENST00000359947.4	+	28	5264	c.4924G>T	c.(4924-4926)Gag>Tag	p.E1642*	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Nonsense_Mutation_p.E1633*|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.E1633*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.E1642*|PTPRF_ENST00000422171.2_Nonsense_Mutation_p.E1001*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1642	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGGAGCTCGAGTTCAAGGT	0.652																																					p.E1642X													.	.			0			c.G4924T												41	44	43					1																	44085236		2203	4299	6502	SO:0001587	stop_gained	5792	exon28			GAGCTCGAGTTCA	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4924G>T	1.37:g.44085236G>T	ENSP00000353030:p.Glu1642*		56	0	0		45	0.07	3	NM_002840	252	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Nonsense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.533639|5.533639	0.96460|0.96460	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	.|.	.|.	.|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.34750|.	N|.	0.003720|.	.|T	.|0.74658	.|0.3745	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73658	.|-0.3913	.|3	0.87932|.	D|.	0|.	.|.	18.895|18.895	0.92420|0.92420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1642;1633;1642;1633;1001;714|1025;1066	.|.	ENSP00000353030:E1642X|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43857823|43857823	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.588000|0.588000	0.36517|0.36517	9.807000|9.807000	0.99171|0.99171	2.629000|2.629000	0.89072|0.89072	0.555000|0.555000	0.69702|0.69702	GAG|CGA			0.652	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000019710.1				T	44085236	G	T	44085236	4	4	15	1	0	0	0	0	0	1	0	0	12824	1059	37	1	5026	1	PTPRF	1	44085236	Nonsense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	11947975	44085236	205165385	4	923											
SSBP3	23648	broad.mit.edu	37	chr1	54871665	54871665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagggcaccgccgagcctTtgcctttggcaaacatggtt	7	9	12	13	3	0	0	0	0	0	0	0	2	0	0	5	3	3	3	5	3	1	3			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:54871665T>C	ENST00000371320.3	-	1	427	c.17A>G	c.(16-18)aAa>aGa	p.K6R	SSBP3_ENST00000417664.2_5'Flank|SSBP3_ENST00000357475.4_Missense_Mutation_p.K6R|SSBP3_ENST00000371319.3_Missense_Mutation_p.K6R	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	6					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CGCCGAGCCTTTGCCTTTGGC	0.736																																					p.K6R													.	SSBP3	65		0			c.A17G												4	5	5					1																	54871665		2079	4010	6089	SO:0001583	missense	23648	exon1			GAGCCTTTGCCTT		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.17A>G	1.37:g.54871665T>C	ENSP00000360371:p.Lys6Arg		112	0.0089285714	1		134	0.08	11	NM_001009955	177	0	0	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	CCDS591.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645914	0.47258	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.64	2.64	0.31445	.	0.000000	0.46758	U	0.000271	T	0.45155	0.1328	L	0.38838	1.175	0.35702	D	0.815734	B;B;B	0.18968	0.02;0.004;0.032	B;B;B	0.24006	0.018;0.012;0.05	T	0.52540	-0.8562	9	0.62326	D	0.03	.	8.2855	0.31926	0.0:0.0:0.0:1.0	.	6;6;6	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	R	6	.	ENSP00000350067:K6R	K	-	2	0	SSBP3	54644253	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.586000	0.53950	0.978000	0.38470	0.240000	0.17902	AAA			0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022721.1		NM_018070		C	54871665	T	C	54871665	3	2	15	1	0	0	0	0	1	0	0	0	15204	1841	64	4	1221	4	SSBP3	1	54871665	Missense_Mutation	SNP	T	TCGA-2G-AAFV-01A-11D-A42Y-10	10786429	54871665	194378956	5	924											
ACADM	34	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	76228425	76228425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttattgtagcccgtgaaCacattgacaagtacaaaaat	16	10	7	8	1	0	2	0	2	0	0	0	3	0	2	1	0	3	2	1	0	7	5			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:76228425C>G	ENST00000370841.4	+	12	1680	c.1243C>G	c.(1243-1245)Cac>Gac	p.H415D	ACADM_ENST00000541113.1_Missense_Mutation_p.H379D|ACADM_ENST00000481374.1_Intron|ACADM_ENST00000543667.1_Missense_Mutation_p.H226D|ACADM_ENST00000420607.2_Missense_Mutation_p.H419D|ACADM_ENST00000370834.5_Missense_Mutation_p.H448D	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	415					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGCCCGTGAACACATTGACAA	0.294																																					p.H419D													.	ACADM	50		0			c.C1255G												32	34	33					1																	76228425		2192	4277	6469	SO:0001583	missense	34	exon12			CGTGAACACATTG	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1243C>G	1.37:g.76228425C>G	ENSP00000359878:p.His415Asp		408	0.0049019608	2		405	0.15	62	NM_001127328	98	0.19	19	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059856	0.55325	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83	5.87	5.87	0.94306	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.203337	0.50627	D	0.000112	D	0.95255	0.8461	N	0.20685	0.6	0.38499	D	0.948183	P;P;P;P	0.48589	0.889;0.912;0.875;0.897	D;P;D;D	0.72075	0.976;0.53;0.96;0.976	D	0.96687	0.9508	10	0.87932	D	0	.	18.7772	0.91915	0.0:1.0:0.0:0.0	.	379;448;419;415	B7Z9I1;Q5T4U5;P11310-2;P11310	.;.;.;ACADM_HUMAN	D	415;448;379;226;419	ENSP00000359878:H415D;ENSP00000359871:H448D;ENSP00000442324:H379D;ENSP00000446176:H226D;ENSP00000409612:H419D	ENSP00000359871:H448D	H	+	1	0	ACADM	76001013	1.000000	0.71417	0.999000	0.59377	0.266000	0.26442	5.112000	0.64634	2.775000	0.95449	0.650000	0.86243	CAC			0.294	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000026967.1				G	76228425	C	G	76228425	3	3	15	1	0	0	0	0	1	0	0	0	113	478	17	5	1301	5	ACADM	1	76228425	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	21356760	76228425	173022196	6	925											
SCAMP3	10067	mdanderson.org	37	chr1	155230121	155230121	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccccactctattacttacTagctgtgccccccagggcag	7	11	7	16	0	1	0	0	0	1	0	2	0	2	0	5	1	4	2	5	1	4	5	rs568798961		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:155230121T>C	ENST00000302631.3	-	4	495	c.388A>G	c.(388-390)Act>Gct	p.T130A	CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Splice_Site_p.T104A|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	130					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			TATTACTTACTAGCTGTGCCC	0.572													T|||	1	0.000199681	0	0	5008	,	,		19894	0		0	False		,,,				2504	0.001				p.T130A													.	.			0			c.A388G												82	83	83					1																	155230121		2203	4300	6503	SO:0001630	splice_region_variant	10067	exon4			ACTTACTAGCTGT	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"Secretory carrier membrane proteins"	10565	protein-coding gene	gene with protein product	"Propin 1"	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.388+1A>G	1.37:g.155230121T>C			46	0	0		84	0.05	4	NM_005698	313	0.03	9	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	6.903	0.536188	0.13188	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.16597	2.62;2.33	4.2	-1.44	0.08856	.	0.474665	0.22365	N	0.061040	T	0.02571	0.0078	L	0.36672	1.1	0.21473	N	0.999678	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.42498	-0.9448	9	.	.	.	-24.0719	1.5364	0.02546	0.1654:0.1046:0.3415:0.3884	.	104;130	O14828-2;O14828	.;SCAM3_HUMAN	A	130;104	ENSP00000307275:T130A;ENSP00000347540:T104A	.	T	-	1	0	SCAMP3	153496745	0.105000	0.21958	0.028000	0.17463	0.214000	0.24535	0.229000	0.17833	-0.354000	0.08212	-0.344000	0.07964	ACT			0.572	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087399.1		NM_005698	Missense_Mutation	C	155230121	T	C	155230121	5	2	15	1	0	0	0	0	0	0	1	0	13895	1536	53	4	679	4	SCAMP3	1	155230121	Splice_Site	SNP	T	TCGA-2G-AAFV-01A-11D-A42Y-10	79001696	155230121	94020500	7	926											
ADORA1	134	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	203098167	203098167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtcatccccctcgcCatcctcatcaacattgggcc	6	9	7	19	1	3	0	3	0	0	0	6	0	5	0	6	2	1	0	6	2	1	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:203098167C>T	ENST00000367236.4	+	2	1119	c.198C>T	c.(196-198)gcC>gcT	p.A66A	ADORA1_ENST00000309502.3_Silent_p.A66A|ADORA1_ENST00000367235.1_Silent_p.A66A|RP11-335O13.7_ENST00000421055.1_RNA|ADORA1_ENST00000337894.4_Silent_p.A66A	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	66					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TCCCCCTCGCCATCCTCATCA	0.632																																					p.A66A													.	.			0			c.C198T												227	180	196					1																	203098167		2203	4300	6503	SO:0001819	synonymous_variant	134	exon2			CCTCGCCATCCTC	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.198C>T	1.37:g.203098167C>T			86	0	0		191	0.07	13	NM_001048230	10	0	0	A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	ENST00000367236.4	37	CCDS1434.1																																																																																					0.632	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000100273.1		NM_000674		T	203098167	C	T	203098167	2	4	15	1	0	0	0	0	0	0	0	1	326	581	21	3		3	ADORA1	1	203098167	Silent	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	47868046	203098167	46152454	8	927											
DUSP10	11221	broad.mit.edu	37	chr1	221879723	221879723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcgaggccgcggatgcGccgccccccacctcccggca	6	3	12	20	6	0	0	0	0	0	0	2	2	1	1	7	3	2	2	7	3	1	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:221879723G>A	ENST00000366899.3	-	3	1135	c.897C>T	c.(895-897)ggC>ggT	p.G299G	DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	299					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G299G(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CCGCGGATGCGCCGCCCCCCA	0.582																																					p.G299G													DUSP10,NS,carcinoma,0,1	DUSP10	64	1	1	Substitution - coding silent(1)	prostate(1)	c.C897T												57	66	63					1																	221879723		2203	4300	6503	SO:0001819	synonymous_variant	11221	exon3			GGATGCGCCGCCC	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.897C>T	1.37:g.221879723G>A			177	0	0		221	0.03	6	NM_007207	9	0	0	D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	ENST00000366899.3	37	CCDS1528.1																																																																																					0.582	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090716.1		NM_007207		A	221879723	G	A	221879723	2	1	15	1	0	0	0	0	0	0	0	1	4815	1074	38	1		1	DUSP10	1	221879723	Silent	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	18781556	221879723	27370898	9	928											
KIF26B	55083	mdanderson.org	37	chr1	245851505	245851505	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgagcagactcctcctGgccagccccagagcgcgcgg	6	4	14	17	4	0	3	0	1	0	2	2	3	2	3	6	2	3	1	6	2	0	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr1:245851505G>T	ENST00000407071.2	+	12	5660	c.5220G>T	c.(5218-5220)ctG>ctT	p.L1740L	KIF26B_ENST00000366518.4_Silent_p.L1359L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1740	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GACTCCTCCTGGCCAGCCCCA	0.741																																					p.L1740L													.	.			0			c.G5220T												12	14	13					1																	245851505		1660	3669	5329	SO:0001819	synonymous_variant	55083	exon12			CCTCCTGGCCAGC	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5220G>T	1.37:g.245851505G>T			20	0	0		31	0.1	3	NM_018012	9	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																					0.741	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381037.1		XM_371354		T	245851505	G	T	245851505	2	4	15	1	0	0	0	0	0	0	0	1	8310	1335	47	3		3	KIF26B	1	245851505	Silent	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	23971782	245851505	3399116	10	929											
KDM3A	55818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	86707433	86707433	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagccagcacatctccTctaaactggctggccgacct	8	9	8	16	1	2	0	0	0	2	0	4	1	3	0	5	2	3	2	5	2	2	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr2:86707433T>C	ENST00000409556.1	+	17	2825	c.2460T>C	c.(2458-2460)ccT>ccC	p.P820P	KDM3A_ENST00000409064.1_Silent_p.P820P|KDM3A_ENST00000542128.1_Silent_p.P768P|KDM3A_ENST00000312912.5_Silent_p.P820P			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	820					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						GCACATCTCCTCTAAACTGGC	0.532																																					p.P820P	NSCLC(96;1150 1523 6936 46253 49736)												.	.			0			c.T2460C												74	85	81					2																	86707433		2203	4300	6503	SO:0001819	synonymous_variant	55818	exon16			ATCTCCTCTAAAC	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.2460T>C	2.37:g.86707433T>C			75	0	0		79	0.08	6	NM_001146688	69	0.12	8	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	CCDS1990.1																																																																																					0.532	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252522.2		NM_018433		C	86707433	T	C	86707433	2	2	15	1	0	0	0	0	0	0	0	1	8141	1538	54	4		4	KDM3A	2	86707433	Silent	SNP	T	TCGA-2G-AAFV-01A-11D-A42Y-10		86707433	156491940	11	930											
NCAPH	23397	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr2	97033084	97033084	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtggagtctgctgacagcGctctccggaaaggaggcaga	10	7	15	9	2	2	2	0	1	2	1	3	5	2	5	1	4	2	3	1	4	1	0	rs149403246		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr2:97033084G>T	ENST00000240423.4	+	15	2014	c.1971G>T	c.(1969-1971)gcG>gcT	p.A657A	NCAPH_ENST00000455200.1_Silent_p.A646A|NCAPH_ENST00000427946.1_Silent_p.A521A	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	657					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGCTGACAGCGCTCTCCGGAA	0.488																																					p.A657A													.	.			0			c.G1971T												86	83	84					2																	97033084		2203	4300	6503	SO:0001819	synonymous_variant	23397	exon15			GACAGCGCTCTCC	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1971G>T	2.37:g.97033084G>T			94	0	0		121	0.04	5	NM_015341	121	0	0	B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	4.836	0.155344	0.09236	.	.	ENSG00000121152	ENST00000435349	T	0.41400	1.0	5.93	-3.66	0.04489	.	0.692617	0.16053	N	0.231891	T	0.15652	0.0377	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.21075	-1.0256	7	0.13853	T	0.58	-0.8197	1.893	0.03252	0.3647:0.3153:0.2028:0.1173	.	.	.	.	S	98	ENSP00000415162:A98S	ENSP00000415162:A98S	A	+	1	0	NCAPH	96396811	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.257000	0.08745	-0.323000	0.08602	-0.145000	0.13849	GCT			0.488	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252842.2		NM_015341		T	97033084	G	T	97033084	2	4	15	1	0	0	0	0	0	0	0	1	10226	1074	38	1		1	NCAPH	2	97033084	Silent	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	10325651	97033084	146166289	12	931											
NPAS2	4862	mdanderson.org	37	chr2	101587513	101587513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaagacccgccatccgagGccctccactcctcagcacta	9	6	8	18	2	1	1	1	0	0	1	4	3	4	2	6	2	1	1	6	2	2	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr2:101587513G>T	ENST00000335681.5	+	12	1402	c.1117G>T	c.(1117-1119)Gcc>Tcc	p.A373S	AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.A438S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	373					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						GCCATCCGAGGCCCTCCACTC	0.552																																					p.A373S													.	.			0			c.G1117T												84	80	81					2																	101587513		2203	4300	6503	SO:0001583	missense	4862	exon12			TCCGAGGCCCTCC	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.1117G>T	2.37:g.101587513G>T	ENSP00000338283:p.Ala373Ser		105	0	0		130	0.04	5	NM_002518	5	0	0	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644194	0.14451	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05081	3.51;3.5	5.85	1.98	0.26296	.	0.677560	0.15901	N	0.239067	T	0.05960	0.0155	L	0.47716	1.5	0.21020	N	0.999808	B;B	0.23249	0.082;0.015	B;B	0.22753	0.041;0.011	T	0.44997	-0.9291	10	0.11182	T	0.66	.	9.2325	0.37446	0.427:0.0:0.573:0.0	.	438;373	F5H027;Q99743	.;NPAS2_HUMAN	S	373;438	ENSP00000338283:A373S;ENSP00000438428:A438S	ENSP00000338283:A373S	A	+	1	0	NPAS2	100953945	0.943000	0.32029	0.241000	0.24154	0.816000	0.46133	1.008000	0.29872	0.083000	0.17047	0.655000	0.94253	GCC			0.552	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000253168.3				T	101587513	G	T	101587513	3	4	15	1	0	0	0	0	1	0	0	0	10580	1203	42	2	1159	2	NPAS2	2	101587513	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	4554429	101587513	141611860	13	932											
SH3RF3	344558	broad.mit.edu	37	chr2	110065794	110065794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgcccacggccggccaTccccctcacatcagcagcat	8	6	9	18	2	2	0	2	0	0	0	3	1	3	0	5	2	3	2	5	2	0	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr2:110065794T>C	ENST00000309415.6	+	8	1997	c.1997T>C	c.(1996-1998)aTc>aCc	p.I666T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	666							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CGGCCGGCCATCCCCCTCACA	0.677																																					p.I666T													.	SH3RF3	62		0			c.T1997C												29	38	35					2																	110065794		2144	4251	6395	SO:0001583	missense	344558	exon8			CGGCCATCCCCCT	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.1997T>C	2.37:g.110065794T>C	ENSP00000309186:p.Ile666Thr		265	0.0150943396	4		337	0.01	5	NM_001099289	3	0	0	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	T	13.52	2.262250	0.39995	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.56941	0.43;2.22	4.9	4.9	0.64082	.	0.118369	0.56097	D	0.000023	T	0.38295	0.1035	.	.	.	0.47123	D	0.999328	P	0.34546	0.456	B	0.33521	0.165	T	0.19386	-1.0307	9	0.14252	T	0.57	-29.8916	14.6948	0.69113	0.0:0.0:0.0:1.0	.	666	Q8TEJ3	SH3R3_HUMAN	T	666	ENSP00000414997:I666T;ENSP00000309186:I666T	ENSP00000309186:I666T	I	+	2	0	SH3RF3	109432226	1.000000	0.71417	0.956000	0.39512	0.680000	0.39746	5.466000	0.66731	2.064000	0.61679	0.533000	0.62120	ATC			0.677	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001099289		C	110065794	T	C	110065794	3	2	15	1	0	0	0	0	1	0	0	0	14283	1435	50	4	2027	4	SH3RF3	2	110065794	Missense_Mutation	SNP	T	TCGA-2G-AAFV-01A-11D-A42Y-10	8478281	110065794	133133579	14	933											
TTN	7273	mdanderson.org	37	chr2	179490019	179490019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcacaaagaggttggcGtgagttttgaaatcttttgc	9	15	10	7	1	2	3	1	2	1	1	2	3	2	3	1	2	1	2	1	2	2	6	rs55973744	byFrequency	TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr2:179490019G>A	ENST00000591111.1	-	191	39830	c.39606C>T	c.(39604-39606)caC>caT	p.H13202H	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.H5778H|TTN_ENST00000342992.6_Silent_p.H12275H|TTN_ENST00000359218.5_Silent_p.H5903H|TTN_ENST00000342175.6_Silent_p.H5970H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.H14843H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13202	Ig-like 87.				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)			AGAGGTTGGCGTGAGTTTTGA	0.373													G|||	44	0.00878594	0	0	5008	,	,		15620	0.0407		0	False		,,,				2504	0.0031				p.H14843H													.	.			0			c.C44529T							G	,,,	1,3683		0,1,1841	247	236	239		17334,36825,17709,17910	0.8	1	2	dbSNP_129	239	0,8168		0,0,4084	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5925	AA,AG,GG		0.0,0.0271,0.0084	,,,	5778/26927,12275/33424,5903/27052,5970/27119	179490019	1,11851	1842	4084	5926	SO:0001819	synonymous_variant	7273	exon241			GTTGGCGTGAGTT	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.39606C>T	2.37:g.179490019G>A			61	0	0		54	0.06	3	NM_001267550	1	0	0	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																																																																																				0.01		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		A	179490019	G	A	179490019	2	1	15	1	0	0	0	0	0	0	0	1	16759	1136	40	1		1	TTN	2	179490019	Silent	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	69424225	179490019	63709354	15	934											
DNAH7	56171	mdanderson.org	37	chr2	196682528	196682528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcttgcattccctcagggGttatcatgaagtttaataat	11	15	8	7	0	3	1	2	1	1	0	4	2	4	1	1	2	1	3	1	2	4	6	rs570476938		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr2:196682528G>T	ENST00000312428.6	-	50	9417	c.9317C>A	c.(9316-9318)aCc>aAc	p.T3106N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3106	AAA 5. {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						TCCCTCAGGGGTTATCATGAA	0.348																																					p.T3106N													.	.			0			c.C9317A												74	66	68					2																	196682528		1827	4083	5910	SO:0001583	missense	56171	exon50			TCAGGGGTTATCA	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.9317C>A	2.37:g.196682528G>T	ENSP00000311273:p.Thr3106Asn		64	0	0		109	0.05	5	NM_018897	3	0	0	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459244	0.84317	.	.	ENSG00000118997	ENST00000312428	T	0.29655	1.56	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85483	0.1180	10	0.87932	D	0	.	17.8344	0.88692	0.0:0.0:1.0:0.0	.	3106	Q8WXX0	DYH7_HUMAN	N	3106	ENSP00000311273:T3106N	ENSP00000311273:T3106N	T	-	2	0	DNAH7	196390773	1.000000	0.71417	0.963000	0.40424	0.762000	0.43233	9.657000	0.98554	2.520000	0.84964	0.561000	0.74099	ACC			0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335202.3		NM_018897		T	196682528	G	T	196682528	3	4	15	1	0	0	0	0	1	0	0	0	4611	1261	44	3	2821	3	DNAH7	2	196682528	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	17192509	196682528	46516845	16	935											
C2orf62	375307	mdanderson.org	37	chr2	219227558	219227558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgatggcctggcggcGgatggtgcccagcaatgccc	6	6	17	12	2	0	1	0	1	0	0	0	2	0	2	3	6	3	1	3	6	1	0	rs201618489		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr2:219227558G>T	ENST00000289388.3	+	6	592	c.563G>T	c.(562-564)cGg>cTg	p.R188L	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		188					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTGGCGGCGGATGGTGCCC	0.582																																					p.R188L													C2orf62,NS,carcinoma,+1,1	C2orf62	1	1	0			c.G563T												66	61	62					2																	219227558		2203	4300	6503	SO:0001583	missense	375307	exon6			GGCGGCGGATGGT																												ENST00000289388.3:c.563G>T	2.37:g.219227558G>T	ENSP00000289388:p.Arg188Leu		27	0	0		44	0.07	3	NM_198559	11	0	0		Missense_Mutation	SNP	ENST00000289388.3	37	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692595	0.30052	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.7	-2.0	0.07433	.	0.437579	0.22676	N	0.057014	T	0.28665	0.0710	L	0.38175	1.15	0.09310	N	1	B	0.26195	0.144	B	0.23275	0.045	T	0.24297	-1.0164	9	0.59425	D	0.04	-13.8114	10.7024	0.45934	0.6317:0.0:0.3683:0.0	.	188	Q7Z7H3	CB062_HUMAN	L	188	.	ENSP00000289388:R188L	R	+	2	0	C2orf62	218935802	0.004000	0.15560	0.017000	0.16124	0.933000	0.57130	-0.259000	0.08721	-0.225000	0.09913	-0.812000	0.03155	CGG			0.582	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256771.1				T	219227558	G	T	219227558	3	4	15	1	0	0	0	0	1	0	0	0	2183	1116	39	1	585	1	C2orf62	2	219227558	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	22545030	219227558	23971815	17	936											
TRIP12	9320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	230668944	230668944	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgactctgaatatccacCtattacattaaaaaaaaata	18	13	2	8	0	1	2	0	2	1	0	2	2	2	2	2	0	1	0	2	0	10	6			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr2:230668944C>G	ENST00000283943.5	-	18	2604		c.e18-1		TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site|TRIP12_ENST00000389045.3_Splice_Site	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						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)			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)		GAATATCCACCTATTACATTA	0.338																																					.													.	.			0			c.2426-1G>C												54	62	59					2																	230668944		2197	4299	6496	SO:0001630	splice_region_variant	9320	exon19			ATCCACCTATTAC	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.2426-1G>C	2.37:g.230668944C>G			243	0	0		258	0.14	36	NM_004238	1	1	1	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Splice_Site	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945849	0.73672	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1011	0.97876	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIP12	230377188	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.173000	0.77612	2.750000	0.94351	0.484000	0.47621	.			0.338	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000331861.3		NM_004238	Intron	G	230668944	C	G	230668944	5	3	15	1	0	0	0	0	0	0	1	0	16580	695	24	5	3649	5	TRIP12	2	230668944	Splice_Site	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	11441386	230668944	12530429	18	937											
CAND2	23066	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	12856660	12856660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagtgaagacgagtacagcGatgacgatgacatgagctgg	14	6	15	6	3	0	6	0	4	0	2	0	9	0	6	0	1	3	2	0	1	2	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr3:12856660G>A	ENST00000456430.2	+	8	1068	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	CAND2_ENST00000295989.5_Missense_Mutation_p.D250N	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	343	Poly-Asp.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGAGTACAGCGATGACGATGA	0.612																																					p.D343N	GBM(43;676 868 1633 6395 37496)												.	CAND2	138		0			c.G1027A												60	67	65					3																	12856660		2155	4253	6408	SO:0001583	missense	23066	exon8			TACAGCGATGACG		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1027G>A	3.37:g.12856660G>A	ENSP00000387641:p.Asp343Asn		73	0.0136986301	1		113	0.19	22	NM_001162499	22	0.05	1	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023634	0.75390	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.35973	1.28;1.28	4.86	4.86	0.63082	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.988	T	0.80605	-0.1308	10	0.62326	D	0.03	-14.0275	15.4782	0.75501	0.0:0.0:1.0:0.0	.	343;250	O75155;O75155-2	CAND2_HUMAN;.	N	250;343	ENSP00000295989:D250N;ENSP00000387641:D343N	ENSP00000295989:D250N	D	+	1	0	CAND2	12831660	1.000000	0.71417	0.091000	0.20842	0.320000	0.28249	9.744000	0.98853	2.231000	0.72958	0.561000	0.74099	GAT			0.612	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339856.4		XM_371617		A	12856660	G	A	12856660	3	1	15	1	0	0	0	0	1	0	0	0	2618	1058	37	1	1057	1	CAND2	3	12856660	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10		12856660	185165770	19	938											
TEX264	51368	mdanderson.org	37	chr3	51737954	51737954	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcccttaggggagtcacgGctggaccctgggactgagcc	6	6	17	12	1	1	1	1	1	0	0	1	4	1	4	3	6	1	1	3	6	1	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr3:51737954G>T	ENST00000415259.1	+	5	1945	c.864G>T	c.(862-864)cgG>cgT	p.R288R	TEX264_ENST00000395057.1_Silent_p.R288R|TEX264_ENST00000416589.1_Silent_p.R288R|TEX264_ENST00000341333.5_Silent_p.R288R|TEX264_ENST00000457573.1_Silent_p.R288R|TEX264_ENST00000463857.1_3'UTR			Q9Y6I9	TX264_HUMAN	testis expressed 264	288						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGGAGTCACGGCTGGACCCTG	0.657																																					p.R288R													.	.			0			c.G864T												18	21	20					3																	51737954		2203	4296	6499	SO:0001819	synonymous_variant	51368	exon5			GTCACGGCTGGAC	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"testis expressed gene 264", "testis expressed sequence 264"			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.864G>T	3.37:g.51737954G>T			31	0	0		46	0.07	3	NM_015926	168	0	0	B3KN87|Q9UKD7	Silent	SNP	ENST00000415259.1	37	CCDS2833.1																																																																																					0.657	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346530.1		NM_015926		T	51737954	G	T	51737954	2	4	15	1	0	0	0	0	0	0	0	1	15806	1190	42	2		2	TEX264	3	51737954	Silent	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	38881294	51737954	146284476	20	939											
ARMC8	25852	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	137942567	137942567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcactccagaggagctaCtgtatacagtgagttttaga	11	12	10	8	0	1	3	1	1	0	2	2	4	2	4	1	1	3	3	1	1	4	5			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr3:137942567C>T	ENST00000469044.1	+	5	698	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	ARMC8_ENST00000471453.1_Silent_p.L129L|ARMC8_ENST00000358441.2_Silent_p.L129L|ARMC8_ENST00000461822.1_Silent_p.L143L|ARMC8_ENST00000485396.1_Silent_p.L101L|ARMC8_ENST00000489213.1_Silent_p.L101L|ARMC8_ENST00000470821.1_Silent_p.L143L|ARMC8_ENST00000481646.1_Silent_p.L129L|ARMC8_ENST00000393058.3_Silent_p.L133L|ARMC8_ENST00000538260.1_Silent_p.L143L|ARMC8_ENST00000491704.1_Silent_p.L101L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	143										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						AGAGGAGCTACTGTATACAGT	0.428																																					p.L143L													.	ARMC8	79		0			c.C427T												89	84	86					3																	137942567		2203	4300	6503	SO:0001819	synonymous_variant	25852	exon5			GAGCTACTGTATA		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.427C>T	3.37:g.137942567C>T			83	0.0120481928	1		99	0.17	17	NM_001267041	55	0.29	16	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37																																																																																						0.428	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000357560.1		NM_015396		T	137942567	C	T	137942567	2	4	15	1	0	0	0	0	0	0	0	1	957	564	20	3		3	ARMC8	3	137942567	Silent	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	86204613	137942567	60079863	21	940											
KCTD8	386617	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	44449883	44449883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcctggttgtcgcgcaCggtggtgtaggagccccggt	3	9	18	11	5	0	0	0	0	0	0	2	1	0	1	3	6	1	3	3	6	1	2			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr4:44449883C>G	ENST00000360029.3	-	1	941	c.658G>C	c.(658-660)Gtg>Ctg	p.V220L	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	220					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTGTCGCGCACGGTGGTGTAG	0.726										HNSCC(17;0.042)																											p.V220L													.	.			0			c.G658C												10	10	10					4																	44449883		2188	4278	6466	SO:0001583	missense	386617	exon1			CGCGCACGGTGGT	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.658G>C	4.37:g.44449883C>G	ENSP00000353129:p.Val220Leu		29	0	0		29	0.31	9	NM_198353	0		0	A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308670	0.60305	.	.	ENSG00000183783	ENST00000360029	T	0.38401	1.14	3.99	3.99	0.46301	.	0.084250	0.46758	D	0.000271	T	0.26231	0.0640	N	0.22421	0.69	0.43304	D	0.995307	B	0.10296	0.003	B	0.11329	0.006	T	0.05241	-1.0897	10	0.31617	T	0.26	.	15.2444	0.73497	0.0:1.0:0.0:0.0	.	220	Q6ZWB6	KCTD8_HUMAN	L	220	ENSP00000353129:V220L	ENSP00000353129:V220L	V	-	1	0	KCTD8	44144640	0.995000	0.38212	0.964000	0.40570	0.990000	0.78478	3.711000	0.54868	2.068000	0.61886	0.585000	0.79938	GTG			0.726	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216868.1				G	44449883	C	G	44449883	3	3	15	1	0	0	0	0	1	0	0	0	8130	536	19	5	771	5	KCTD8	4	44449883	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10		44449883	146704393	22	941											
BANK1	55024	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	102839288	102839288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggagggttcagaccccgCacatattgctgaaaggcatg	11	9	12	9	1	1	2	1	1	0	1	1	3	1	3	2	3	1	4	2	3	3	4			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr4:102839288C>A	ENST00000322953.4	+	7	1422	c.1148C>A	c.(1147-1149)gCa>gAa	p.A383E	BANK1_ENST00000508653.1_Missense_Mutation_p.A250E|BANK1_ENST00000428908.1_Missense_Mutation_p.A250E|BANK1_ENST00000444316.2_Missense_Mutation_p.A353E|BANK1_ENST00000504592.1_Missense_Mutation_p.A368E	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	383			A -> T (influences susceptibility to SLE; dbSNP:rs3733197). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:18204447}.		B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCAGACCCCGCACATATTGCT	0.368																																					p.A383E													.	.			0			c.C1148A												62	65	64					4																	102839288		2202	4300	6502	SO:0001583	missense	55024	exon7			ACCCCGCACATAT	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1148C>A	4.37:g.102839288C>A	ENSP00000320509:p.Ala383Glu		247	0	0		195	0.05	9	NM_017935	0		0	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	C	9.050	0.991796	0.18966	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.55	2.8	0.32819	Ankyrin repeat-containing domain (1);	0.537909	0.15287	N	0.270369	T	0.53158	0.1779	L	0.52573	1.65	0.09310	N	1	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.64410	0.925;0.883;0.883	T	0.37663	-0.9696	10	0.42905	T	0.14	.	3.4311	0.07429	0.2017:0.5819:0.0:0.2164	.	250;383;368	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	E	368;383;250;250;353	ENSP00000421443:A368E;ENSP00000320509:A383E;ENSP00000412748:A250E;ENSP00000422314:A250E;ENSP00000388817:A353E	ENSP00000320509:A383E	A	+	2	0	BANK1	103058311	0.032000	0.19561	0.056000	0.19401	0.152000	0.21847	0.806000	0.27126	0.518000	0.28383	0.655000	0.94253	GCA			0.368	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363161.1		NM_017935		A	102839288	C	A	102839288	3	1	15	1	0	0	0	0	1	0	0	0	1309	710	25	2	1174	2	BANK1	4	102839288	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	58389405	102839288	88314988	23	942											
PHF17	79960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	129789057	129789057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagggaaaagattaaacGgtctgtgtgcaaagtccagg	13	7	13	8	2	1	1	0	0	1	1	2	2	2	2	2	3	2	2	2	3	5	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr4:129789057G>T	ENST00000226319.6	+	10	1830	c.1550G>T	c.(1549-1551)cGg>cTg	p.R517L	PHF17_ENST00000512960.1_Missense_Mutation_p.R517L|PHF17_ENST00000452328.2_Missense_Mutation_p.R505L	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAGATTAAACGGTCTGTGTGC	0.393																																					p.R517L													.	.			0			c.G1550T												90	86	87					4																	129789057		2203	4300	6503	SO:0001583	missense	79960	exon10			TTAAACGGTCTGT																												ENST00000226319.6:c.1550G>T	4.37:g.129789057G>T	ENSP00000226319:p.Arg517Leu		75	0	0		63	0.19	12	NM_199320	18	0.22	4		Missense_Mutation	SNP	ENST00000226319.6	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505914	0.64410	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960;ENST00000535321	T;T;T	0.46451	0.87;0.89;0.87	5.28	5.28	0.74379	.	0.057504	0.64402	N	0.000001	T	0.55369	0.1916	L	0.42529	1.33	0.80722	D	1	B;D	0.61080	0.327;0.989	B;P	0.62298	0.22;0.9	T	0.47156	-0.9139	9	.	.	.	.	19.1132	0.93326	0.0:0.0:1.0:0.0	.	505;517	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	L	517;505;517;517	ENSP00000226319:R517L;ENSP00000388015:R505L;ENSP00000425730:R517L	.	R	+	2	0	PHF17	130008507	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	6.952000	0.75989	2.736000	0.93811	0.655000	0.94253	CGG			0.393	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000364280.1				T	129789057	G	T	129789057	3	4	15	1	0	0	0	0	1	0	0	0	11845	1116	39	1	1611	1	PHF17	4	129789057	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	26949769	129789057	61365219	24	943											
MDC1	9656	broad.mit.edu	37	chr6	30673315	30673315	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggtgacaggtcggtcGgtggaggtggaaggctggag	8	7	21	5	2	1	2	1	1	0	1	3	5	1	5	0	9	0	1	0	9	1	0	rs149345627	byFrequency	TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr6:30673315G>T	ENST00000376406.3	-	10	4292	c.3645C>A	c.(3643-3645)acC>acA	p.T1215T	MDC1_ENST00000376405.2_Silent_p.T951T|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1215	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	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						CAGGTCGGTCGGTGGAGGTGG	0.542								Other conserved DNA damage response genes																													p.T1215T													.	MDC1	218		0			c.C3645A												152	169	163					6																	30673315		2203	4300	6503	SO:0001819	synonymous_variant	9656	exon10			TCGGTCGGTGGAG	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.3645C>A	6.37:g.30673315G>T			158	0.0063291139	1		147	0.03	4	NM_014641	79	0	0	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	CCDS34384.1																																																																																					0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000076103.1		NM_014641		T	30673315	G	T	30673315	2	4	15	1	0	0	0	0	0	0	0	1	9419	1103	39	1		1	MDC1	6	30673315	Silent	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10		30673315	140441752	25	944											
BRD2	6046	mdanderson.org	37	chr6	32942516	32942516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccattccggcagcctGtggatgctgtcaaactgggt	7	10	13	11	1	1	0	1	0	0	0	2	1	2	1	3	4	3	2	3	4	1	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr6:32942516G>T	ENST00000374825.4	+	3	2008	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000374831.4_Missense_Mutation_p.V103L|BRD2_ENST00000395287.1_Missense_Mutation_p.V103L|BRD2_ENST00000449085.2_Missense_Mutation_p.V56L|BRD2_ENST00000395289.2_Missense_Mutation_p.V103L|XXbac-BPG181M17.6_ENST00000580587.1_RNA	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	103	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CCGGCAGCCTGTGGATGCTGT	0.537																																					p.V103L													.	.			0			c.G307T												44	40	41					6																	32942516		2203	4300	6503	SO:0001583	missense	6046	exon3			CAGCCTGTGGATG	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.307G>T	6.37:g.32942516G>T	ENSP00000363958:p.Val103Leu		38	0	0		35	0.09	3	NM_001113182	206	0	0	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339285	0.95783	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000395287;ENST00000449085	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.36	5.36	0.76844	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.43110	D	0.000612	T	0.66655	0.2811	H	0.97491	4.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	T	0.78565	-0.2155	10	0.87932	D	0	-15.7331	16.641	0.85127	0.0:0.0:1.0:0.0	.	103;103	A2AAU0;P25440	.;BRD2_HUMAN	L	103;103;103;103;56	ENSP00000363958:V103L;ENSP00000363964:V103L;ENSP00000378704:V103L;ENSP00000378702:V103L;ENSP00000409145:V56L	ENSP00000363958:V103L	V	+	1	0	BRD2	33050494	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.592000	0.98245	2.784000	0.95788	0.643000	0.83706	GTG			0.537	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000076503.2				T	32942516	G	T	32942516	3	4	15	1	0	0	0	0	1	0	0	0	1504	1377	48	3	313	3	BRD2	6	32942516	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	2269201	32942516	138172551	26	945											
MCM3	4172	mdanderson.org	37	chr6	52141940	52141940	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtggtggggatagctcGgggtgcagtgcaaagcacat	9	7	17	8	1	0	0	0	0	0	0	1	1	0	1	1	5	4	4	1	5	2	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr6:52141940G>T	ENST00000229854.7	-	8	1166	c.1090C>A	c.(1090-1092)Cga>Aga	p.R364R	MCM3_ENST00000419835.2_Silent_p.R318R|MCM3_ENST00000596288.1_Silent_p.R409R|MCM3_ENST00000476448.1_5'UTR			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	364	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	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)					GGGATAGCTCGGGGTGCAGTG	0.597																																					p.R409R													.	.			0			c.C1225A												60	60	60					6																	52141940		2203	4300	6503	SO:0001819	synonymous_variant	4172	exon8			TAGCTCGGGGTGC	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.1090C>A	6.37:g.52141940G>T			52	0	0		53	0.06	3	NM_002388	305	0	0	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37																																																																																						0.597	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470784.1				T	52141940	G	T	52141940	2	4	15	1	0	0	0	0	0	0	0	1	9403	1124	39	1		1	MCM3	6	52141940	Silent	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	19199424	52141940	118973127	27	946											
ULBP2	80328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	150267564	150267564	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagctgaaggacacagcAgtggatcttggcagttcagt	13	8	13	7	0	2	2	1	1	1	1	2	4	2	4	0	3	2	4	0	3	2	2			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr6:150267564A>T	ENST00000367351.3	+	3	479	c.406A>T	c.(406-408)Agt>Tgt	p.S136C		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	136	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)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGGACACAGCAGTGGATCTTG	0.493																																					p.S136C													.	.			0			c.A406T												174	160	165					6																	150267564		2203	4300	6503	SO:0001583	missense	80328	exon3			CACAGCAGTGGAT	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.406A>T	6.37:g.150267564A>T	ENSP00000356320:p.Ser136Cys		170	0	0		84	0.13	11	NM_025217	0		0	Q5VUN4	Missense_Mutation	SNP	ENST00000367351.3	37	CCDS5222.1	.	.	.	.	.	.	.	.	.	.	-	11.44	1.639822	0.29157	.	.	ENSG00000131015	ENST00000367351	T	0.07567	3.18	2.26	-3.86	0.04230	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	0.05686	0.0149	L	0.49778	1.585	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.64687	0.928;0.928	T	0.14896	-1.0456	9	0.87932	D	0	.	0.321	0.00303	0.4053:0.2246:0.1503:0.2198	.	136;136	B4DSS7;Q9BZM5	.;N2DL2_HUMAN	C	136	ENSP00000356320:S136C	ENSP00000356320:S136C	S	+	1	0	ULBP2	150309257	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.694000	0.01915	-0.843000	0.04189	-1.386000	0.01163	AGT			0.493	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042669.1				T	150267564	A	T	150267564	3	4	15	1	0	0	0	0	1	0	0	0	16997	188	7	5	416	5	ULBP2	6	150267564	Missense_Mutation	SNP	A	TCGA-2G-AAFV-01A-11D-A42Y-10	98125624	150267564	20847503	28	947											
KIAA1324L	222223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	86577164	86577164	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgccactgcccaaggAataggtgccttcaccacact	10	10	8	13	0	1	1	1	1	0	0	1	2	1	2	4	2	3	0	4	2	3	3			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr7:86577164A>C	ENST00000450689.2	-	3	570	c.385T>G	c.(385-387)Tcc>Gcc	p.S129A	KIAA1324L_ENST00000416314.1_Intron|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S129A	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	129						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTGCCCAAGGAATAGGTGCCT	0.478																																					p.S129A													.	.			0			c.T385G												170	137	147					7																	86577164		692	1591	2283	SO:0001583	missense	222223	exon3			CCAAGGAATAGGT	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.385T>G	7.37:g.86577164A>C	ENSP00000413445:p.Ser129Ala		140	0	0		151	0.27	41	NM_001142749	28	0.5	14	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.2|28.2	4.901813|4.901813	0.92035|0.92035	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000444627;ENST00000398276;ENST00000425689	.|T;T;T;T	.|0.39056	.|1.1;1.1;1.1;1.1	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.38111	.|U	.|0.001817	T|T	0.68915|0.68915	0.3053|0.3053	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.74456|0.74456	-0.3659|-0.3659	5|10	.|0.87932	.|D	.|0	.|.	15.5547|15.5547	0.76184|0.76184	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|129	.|A8MWY0	.|K132L_HUMAN	C|A	89|129;129;15;15	.|ENSP00000413445:S129A;ENSP00000397377:S129A;ENSP00000381325:S15A;ENSP00000410045:S15A	.|ENSP00000381325:S15A	F|S	-|-	2|1	0|0	KIAA1324L|KIAA1324L	86415100|86415100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.339000|9.339000	0.96797|0.96797	2.273000|2.273000	0.75805|0.75805	0.482000|0.482000	0.46254|0.46254	TTC|TCC			0.478	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333372.3		NM_152748		C	86577164	A	C	86577164	3	2	15	1	0	0	0	0	1	0	0	0	8239	246	9	4	2784	4	KIAA1324L	7	86577164	Missense_Mutation	SNP	A	TCGA-2G-AAFV-01A-11D-A42Y-10		86577164	72561499	29	948											
MUC17	140453	ucsc.edu	37	chr7	100680100	100680100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtaccagcataccaacctcGactcttagtgaaggaatgac	13	8	9	11	1	1	2	0	2	1	0	2	4	1	3	3	2	4	2	3	2	6	3	rs142682652	byFrequency	TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr7:100680100G>A	ENST00000306151.4	+	3	5467	c.5403G>A	c.(5401-5403)tcG>tcA	p.S1801S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1801	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)					TACCAACCTCGACTCTTAGTG	0.507													-|||	22	0.00439297	0.0121	0	5008	,	,		27811	0.002		0	False		,,,				2504	0.0041				p.S1801S													.	MUC17	804		0			c.G5403A												257	261	260					7																	100680100		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			AACCTCGACTCTT	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.5403G>A	7.37:g.100680100G>A			115	0.0347826087	4		162	0.14	22	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																					0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		A	100680100	G	A	100680100	2	1	15	1	0	0	0	0	0	0	0	1	9990	1045	37	1		1	MUC17	7	100680100	Silent	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	14102936	100680100	58458563	30	949			1	5		3	3	1246	N	T_G	4.065741e-06
MUC17	140453	ucsc.edu;bcgsc.ca	37	chr7	100680117	100680117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgactcttagtgaaggaaTgactccattaacaagcacac	14	9	7	11	1	1	2	0	2	1	0	3	4	2	3	1	1	2	1	1	1	5	2	rs147353603	byFrequency	TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr7:100680117T>C	ENST00000306151.4	+	3	5484	c.5420T>C	c.(5419-5421)aTg>aCg	p.M1807T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1807	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)					AGTGAAGGAATGACTCCATTA	0.507													-|||	4	0.000798722	8e-04	0	5008	,	,		27011	0.003		0	False		,,,				2504	0				p.M1807T													.	MUC17	804		0			c.T5420C												250	253	252					7																	100680117		2203	4300	6503	SO:0001583	missense	140453	exon3			AAGGAATGACTCC	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.5420T>C	7.37:g.100680117T>C	ENSP00000302716:p.Met1807Thr		112	0.0267857143	3		169	0.18	31	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.166907	0.00318	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.373	-0.746	0.11095	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48670	-0.9015	8	0.09338	T	0.73	.	.	.	.	.	1807	Q685J3	MUC17_HUMAN	T	1807	ENSP00000302716:M1807T	ENSP00000302716:M1807T	M	+	2	0	MUC17	100466837	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.274000	0.00531	-4.523000	0.00044	-3.958000	0.00015	ATG			0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		C	100680117	T	C	100680117	3	2	15	1	0	0	0	0	1	0	0	0	9990	1464	51	4	5430	4	MUC17	7	100680117	Missense_Mutation	SNP	T	TCGA-2G-AAFV-01A-11D-A42Y-10	17	100680117	58458546	31	950			1	5		3	3	1246	N	T_G	4.065741e-06
MUC17	140453	mdanderson.org	37	chr7	100681345	100681345	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaacctcaactcctagTgaaggaagcactccattcac	13	8	6	14	0	2	1	2	1	0	0	4	2	4	2	4	1	4	1	4	1	5	2	rs142097516		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr7:100681345T>G	ENST00000306151.4	+	3	6712	c.6648T>G	c.(6646-6648)agT>agG	p.S2216R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2216	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)					CAACTCCTAGTGAAGGAAGCA	0.507																																					p.S2216R													.	.			0			c.T6648G												343	338	340					7																	100681345		2203	4300	6503	SO:0001583	missense	140453	exon3			TCCTAGTGAAGGA	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.6648T>G	7.37:g.100681345T>G	ENSP00000302716:p.Ser2216Arg		79	0	0		154	0.05	8	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	2.901	-0.227411	0.06022	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	1.11	-2.01	0.07410	.	.	.	.	.	T	0.01489	0.0048	N	0.14661	0.345	0.09310	N	1	B	0.24963	0.115	B	0.13407	0.009	T	0.49351	-0.8949	9	0.18710	T	0.47	.	4.0824	0.09932	0.3049:0.0:0.0:0.695	.	2216	Q685J3	MUC17_HUMAN	R	2216	ENSP00000302716:S2216R	ENSP00000302716:S2216R	S	+	3	2	MUC17	100468065	0.013000	0.17824	0.006000	0.13384	0.003000	0.03518	-0.741000	0.04855	0.459000	0.27016	0.113000	0.15668	AGT			0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		G	100681345	T	G	100681345	3	3	15	1	0	0	0	0	1	0	0	0	9990	1693	59	4	6658	4	MUC17	7	100681345	Missense_Mutation	SNP	T	TCGA-2G-AAFV-01A-11D-A42Y-10	1228	100681345	58457318	32	951			1	5		3	3	1246	N	T_G	4.065741e-06
CUX1	1523	mdanderson.org	37	chr7	101891810	101891810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcccagctcggagggcGacagctgcgacggcgtggag	6	3	19	13	7	0	0	0	0	0	0	1	4	0	2	1	5	3	2	1	5	0	0	rs571342866	byFrequency	TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr7:101891810G>T	ENST00000292535.7	+	24	4044	c.4006G>T	c.(4006-4008)Gac>Tac	p.D1336Y	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.D1347Y|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.D1314Y|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.D1178Y|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.D1234Y|CUX1_ENST00000550008.2_Missense_Mutation_p.D1280Y	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1336					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						CTCGGAGGGCGACAGCTGCGA	0.736																																					p.D1347Y													.	.			0			c.G4039T												4	5	5					7																	101891810		1822	3512	5334	SO:0001583	missense	1523	exon24			GAGGGCGACAGCT	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.4006G>T	7.37:g.101891810G>T	ENSP00000292535:p.Asp1336Tyr		19	0	0		33	0.09	3	NM_001202543	2	0	0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847981	0.71603	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.61392	0.13;0.13;0.12;0.11;0.12;0.11	3.87	3.87	0.44632	.	0.315087	0.32386	N	0.006169	T	0.70334	0.3212	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.85130	0.997;0.867	T	0.73196	-0.4059	10	0.52906	T	0.07	-17.4663	15.9719	0.80027	0.0:0.0:1.0:0.0	.	1336;1347	P39880;P39880-3	CUX1_HUMAN;.	Y	1347;1336;1314;1280;1234;1178	ENSP00000353401:D1347Y;ENSP00000292535:D1336Y;ENSP00000446630:D1314Y;ENSP00000447373:D1280Y;ENSP00000450125:D1234Y;ENSP00000451558:D1178Y	ENSP00000292535:D1336Y	D	+	1	0	CUX1	101678530	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.992000	0.88273	1.971000	0.57363	0.491000	0.48974	GAC			0.736	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000347535.1		NM_001913		T	101891810	G	T	101891810	3	4	15	1	0	0	0	0	1	0	0	0	4066	1058	37	1	4167	1	CUX1	7	101891810	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	1210465	101891810	57246853	33	952											
PPP2R2A	5520	mdanderson.org	37	chr8	26217714	26217714	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaattatggaaaatcagtGaaagggacaaaagaccagaa	22	6	9	4	0	1	3	1	1	0	2	1	5	1	5	1	2	0	0	1	2	9	2			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr8:26217714G>T	ENST00000380737.3	+	5	705	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	PPP2R2A_ENST00000315985.7_Nonsense_Mutation_p.E136*	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	126					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GAAAATCAGTGAAAGGGACAA	0.313																																					p.E136X													.	.			0			c.G406T												83	86	85					8																	26217714		2203	4299	6502	SO:0001587	stop_gained	5520	exon5			ATCAGTGAAAGGG	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.376G>T	8.37:g.26217714G>T	ENSP00000370113:p.Glu126*		50	0	0		45	0.07	3	NM_001177591	120	0	0	B2RBU8|B4E1T7|P50409|Q00007	Nonsense_Mutation	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	38	7.193284	0.98125	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8353	19.0947	0.93246	0.0:0.0:1.0:0.0	.	.	.	.	X	126;136	.	ENSP00000325074:E136X	E	+	1	0	PPP2R2A	26273631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.623000	0.98386	2.593000	0.87608	0.585000	0.79938	GAA			0.313	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375954.2		NM_002717		T	26217714	G	T	26217714	4	4	15	1	0	0	0	0	0	1	0	0	12404	1291	45	3	435	3	PPP2R2A	8	26217714	Nonsense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10		26217714	120146308	34	953											
ARFGEF1	10565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	68208839	68208839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgatgttactgcagtaaGtaaagcctttaagaaaaaaa	17	12	8	4	0	0	2	0	1	0	1	0	2	0	2	1	0	3	4	1	0	8	6			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr8:68208839G>A	ENST00000262215.3	-	5	855	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	156	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTGCAGTAAGTAAAGCCTTT	0.353																																					p.L156F													ARFGEF1,NS,carcinoma,+1,1	ARFGEF1	1	1	0			c.C466T												112	100	104					8																	68208839		2203	4300	6503	SO:0001583	missense	10565	exon5			CAGTAAGTAAAGC	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.466C>T	8.37:g.68208839G>A	ENSP00000262215:p.Leu156Phe		97	0	0		97	0.21	20	NM_006421	10	0.3	3	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081909	0.76528	.	.	ENSG00000066777	ENST00000262215	T	0.32023	1.47	4.66	4.66	0.58398	Armadillo-type fold (1);	0.074221	0.56097	D	0.000034	T	0.69233	0.3088	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81709	-0.0809	10	0.87932	D	0	.	17.5616	0.87909	0.0:0.0:1.0:0.0	.	156	Q9Y6D6	BIG1_HUMAN	F	156	ENSP00000262215:L156F	ENSP00000262215:L156F	L	-	1	0	ARFGEF1	68371393	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.347000	0.73004	2.143000	0.66587	0.585000	0.79938	CTT			0.353	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379441.4		NM_006421		A	68208839	G	A	68208839	3	1	15	1	0	0	0	0	1	0	0	0	852	1029	36	3	5223	3	ARFGEF1	8	68208839	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	41991125	68208839	78155183	35	954											
CAMK1D	57118	mdanderson.org	37	chr10	12595239	12595239	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagcggggccttttccgaAgtggttttagctgaagagaa	10	10	13	8	2	0	2	0	1	0	1	1	4	1	2	2	3	2	2	2	3	4	4	rs377417219		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr10:12595239A>G	ENST00000378847.3	+	2	445	c.108A>G	c.(106-108)gaA>gaG	p.E36E	CAMK1D_ENST00000378845.1_Silent_p.E36E|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	36	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCTTTTCCGAAGTGGTTTTAG	0.468																																					p.E36E													CAMK1D_ENST00000378847,NS,malignant_melanoma,+2,6	CAMK1D_ENST00000378847	2	6	0			c.A108G							A	,	0,4406		0,0,2203	157	149	152		108,108	3.9	1	10		152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CAMK1D	NM_020397.2,NM_153498.2	,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,	36/358,36/386	12595239	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57118	exon2			TTCCGAAGTGGTT	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.108A>G	10.37:g.12595239A>G			74	0	0		49	0.06	3	NM_153498	2	0	0	B0YIY0|Q9HD31	Silent	SNP	ENST00000378847.3	37	CCDS7091.1																																																																																					0.468	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046820.1		NM_020397		G	12595239	A	G	12595239	2	3	15	1	0	0	0	0	0	0	0	1	2599	69	3	4		4	CAMK1D	10	12595239	Silent	SNP	A	TCGA-2G-AAFV-01A-11D-A42Y-10		12595239	122939508	36	955											
DBX1	120237	mdanderson.org	37	chr11	20181777	20181777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctggagtggccggaaaatgCcgactgcaaggactggggca	10	5	17	9	2	0	0	0	0	0	0	0	4	0	3	2	6	2	3	2	6	3	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr11:20181777C>T	ENST00000524983.2	-	1	382	c.94G>A	c.(94-96)Gca>Aca	p.A32T	DBX1_ENST00000227256.3_Missense_Mutation_p.A32T			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	32					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CCGGAAAATGCCGACTGCAAG	0.701																																					p.A32T													.	.			0			c.G94A												9	9	9					11																	20181777		1895	3648	5543	SO:0001583	missense	120237	exon1			AAAATGCCGACTG			11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.94G>A	11.37:g.20181777C>T	ENSP00000436881:p.Ala32Thr		21	0	0		36	0.08	3	NM_001029865	0		0		Missense_Mutation	SNP	ENST00000524983.2	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.306371	0.81247	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.91295	-2.82;0.16	5.41	5.41	0.78517	.	0.181068	0.47852	N	0.000207	D	0.93132	0.7813	L	0.53249	1.67	0.43803	D	0.996351	D	0.56287	0.975	P	0.57960	0.83	D	0.93558	0.6892	10	0.66056	D	0.02	-11.7772	18.1844	0.89788	0.0:1.0:0.0:0.0	.	32	F8W811	.	T	32	ENSP00000436881:A32T;ENSP00000227256:A32T	ENSP00000227256:A32T	A	-	1	0	DBX1	20138353	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	2.944000	0.49034	2.539000	0.85634	0.491000	0.48974	GCA			0.701	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000387585.2		NM_001029865		T	20181777	C	T	20181777	3	4	15	1	0	0	0	0	1	0	0	0	4261	739	26	2	1070	2	DBX1	11	20181777	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10		20181777	114824739	37	956											
SLC1A2	6506	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	35440503	35440503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatcccctcacccttccGtagatgccatggtctgggga	10	9	9	13	1	2	1	1	0	1	1	4	2	4	2	5	3	1	1	5	3	3	2			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr11:35440503G>A	ENST00000278379.3	-	1	293	c.11C>T	c.(10-12)aCg>aTg	p.T4M	RP4-683L5.1_ENST00000534165.1_RNA|SLC1A2_ENST00000395750.1_Intron|SLC1A2_ENST00000395753.1_Intron|SLC1A2_ENST00000606205.1_Missense_Mutation_p.T4M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	4					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TCACCCTTCCGTAGATGCCAT	0.677																																					p.T4M	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												.	.			0			c.C11T												44	37	39					11																	35440503		2194	4280	6474	SO:0001583	missense	6506	exon1			CCTTCCGTAGATG	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.11C>T	11.37:g.35440503G>A	ENSP00000278379:p.Thr4Met		169	0	0		160	0.29	47	NM_004171	0		0	B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231313	0.39399	.	.	ENSG00000110436	ENST00000278379	T	0.56103	0.48	3.81	3.81	0.43845	.	2.890020	0.01150	N	0.006381	T	0.57140	0.2033	N	0.08118	0	0.80722	D	1	P;D	0.76494	0.614;0.999	B;D	0.64877	0.031;0.93	T	0.54629	-0.8265	10	0.72032	D	0.01	16.9264	12.5574	0.56261	0.0:0.0:1.0:0.0	.	4;4	B4DQE9;P43004	.;EAA2_HUMAN	M	4	ENSP00000278379:T4M	ENSP00000278379:T4M	T	-	2	0	SLC1A2	35397079	0.230000	0.23740	0.401000	0.26359	0.975000	0.68041	3.292000	0.51772	1.959000	0.56917	0.561000	0.74099	ACG			0.677	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000258181.1		NM_004171		A	35440503	G	A	35440503	3	1	15	1	0	0	0	0	1	0	0	0	14455	1145	40	1	1757	1	SLC1A2	11	35440503	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	15258726	35440503	99566013	38	957											
DLG2	1740	hgsc.bcm.edu	37	chr11	83544668	83544668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catactcaccgataggatctGgtctcctctctggagctccc	7	11	8	15	1	4	0	1	0	3	0	7	3	5	2	3	3	2	1	3	3	2	2			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr11:83544668G>T	ENST00000532653.1	-	12	1698	c.1396C>A	c.(1396-1398)Cag>Aag	p.Q466K	DLG2_ENST00000280241.8_Missense_Mutation_p.Q505K|DLG2_ENST00000537455.1_Missense_Mutation_p.Q220K|DLG2_ENST00000531015.1_Missense_Mutation_p.Q433K|DLG2_ENST00000524982.1_Missense_Mutation_p.Q466K|DLG2_ENST00000398309.2_Missense_Mutation_p.Q466K|DLG2_ENST00000543673.1_Missense_Mutation_p.Q571K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.Q405K|DLG2_ENST00000418306.2_Missense_Mutation_p.Q363K|DLG2_ENST00000398301.2_Missense_Mutation_p.Q505K|DLG2_ENST00000376104.2_Missense_Mutation_p.Q571K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	208	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GATAGGATCTGGTCTCCTCTC	0.438																																					p.Q571K													DLG2_ENST00000418306,NS,carcinoma,+1,8	DLG2_ENST00000418306	1	8	0			c.C1711A												100	109	106					11																	83544668		2136	4264	6400	SO:0001583	missense	1740	exon17			GGATCTGGTCTCC	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1396C>A	11.37:g.83544668G>T	ENSP00000435849:p.Gln466Lys		91	0	0		86	0.06	5	NM_001142699	0		0	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	G	17.07	3.295409	0.60086	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;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;1.78	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.092240	0.44902	D	0.000420	T	0.35566	0.0936	L	0.39397	1.21	0.80722	D	1	B;B;B;B;P;B;B;B	0.46020	0.036;0.174;0.008;0.001;0.871;0.2;0.014;0.024	B;B;B;B;P;B;B;B	0.51945	0.156;0.216;0.064;0.039;0.685;0.167;0.102;0.061	T	0.01635	-1.1307	9	.	.	.	.	18.8476	0.92213	0.0:0.0:1.0:0.0	.	433;466;466;405;505;571;466;363	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	466;571;363;571;505;405;220;466;466;571;433;505	ENSP00000381355:Q466K;ENSP00000365272:Q571K;ENSP00000402275:Q363K;ENSP00000441994:Q571K;ENSP00000280241:Q505K;ENSP00000381353:Q405K;ENSP00000443248:Q220K;ENSP00000432894:Q466K;ENSP00000435849:Q466K;ENSP00000433848:Q433K;ENSP00000381346:Q505K	.	Q	-	1	0	DLG2	83222316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.540000	0.82074	2.462000	0.83206	0.650000	0.86243	CAG			0.438	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000259253.2		NM_001364		T	83544668	G	T	83544668	3	4	15	1	0	0	0	0	1	0	0	0	4560	1357	47	3	1314	3	DLG2	11	83544668	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	48104165	83544668	51461848	39	958											
NOP2	4839	broad.mit.edu	37	chr12	6666318	6666318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaaaaggctgctctggCaactgctgcttctcaacccc	8	11	7	15	0	3	0	2	0	3	0	5	0	3	0	2	2	5	5	2	2	4	2	rs2534700		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr12:6666318C>A	ENST00000322166.5	-	16	2401	c.2280G>T	c.(2278-2280)ttG>ttT	p.L760F	IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000541778.1_Missense_Mutation_p.L756F|NOP2_ENST00000537442.1_Missense_Mutation_p.L760F|IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000382421.3_Missense_Mutation_p.L793F|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000542015.1_5'Flank|NOP2_ENST00000399466.2_Missense_Mutation_p.L756F|IFFO1_ENST00000336604.4_5'Flank	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	760				LP -> FA (in Ref. 1; AAA36398 and 3; CAA39119). {ECO:0000305}.	positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTGCTCTGGCAACTGCTGCT	0.587																																					p.L793F													.	NOP2	44		0			c.G2379T												93	95	95					12																	6666318		1919	4140	6059	SO:0001583	missense	4839	exon17			CTCTGGCAACTGC		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.2280G>T	12.37:g.6666318C>A	ENSP00000313272:p.Leu760Phe		228	0	0		546	0.02	10	NM_001258309	507	0.03	13	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	7.488	0.650114	0.14516	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T	0.18657	2.2;2.2;2.21;2.2;2.21	4.67	1.69	0.24217	.	1.635760	0.03608	N	0.234431	T	0.16085	0.0387	L	0.34521	1.04	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.005	T	0.23868	-1.0176	10	0.21540	T	0.41	0.1509	4.2973	0.10908	0.0:0.5909:0.1913:0.2177	.	760;756	P46087;P46087-2	NOP2_HUMAN;.	F	760;793;756;760;756	ENSP00000444437:L760F;ENSP00000371858:L793F;ENSP00000382392:L756F;ENSP00000313272:L760F;ENSP00000443150:L756F	ENSP00000313272:L760F	L	-	3	2	NOP2	6536579	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-0.857000	0.04286	0.550000	0.28991	0.561000	0.74099	TTG			0.587	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402614.1		NM_006170		A	6666318	C	A	6666318	3	1	15	1	0	0	0	0	1	0	0	0	10555	709	25	2	162	2	NOP2	12	6666318	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10		6666318	127185577	40	959											
C12orf40	283461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	40076502	40076502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaataagacagtcagactAcattactgaaaaacactcaa	20	8	5	8	0	2	4	2	2	0	2	2	4	2	4	0	0	3	0	0	0	7	3			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr12:40076502A>G	ENST00000324616.5	+	8	930	c.776A>G	c.(775-777)tAc>tGc	p.Y259C	C12orf40_ENST00000405531.3_Missense_Mutation_p.Y259C|C12orf40_ENST00000398716.1_Missense_Mutation_p.Y182C	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	259										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						CAGTCAGACTACATTACTGAA	0.353																																					p.Y259C													C12orf40,NS,carcinoma,+1,1	C12orf40	1	1	0			c.A776G												133	133	133					12																	40076502		1838	4091	5929	SO:0001583	missense	283461	exon8			CAGACTACATTAC	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.776A>G	12.37:g.40076502A>G	ENSP00000317671:p.Tyr259Cys		79	0	0		101	0.24	24	NM_001031748	0		0	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333298	0.24167	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.52754	0.65;0.67	5.36	2.96	0.34315	.	0.267201	0.27258	N	0.020196	T	0.34279	0.0892	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.47162	0.54	T	0.15983	-1.0418	10	0.87932	D	0	.	5.8045	0.18432	0.1539:0.0819:0.0:0.7642	.	259	Q86WS4	CL040_HUMAN	C	259;182;259	ENSP00000383897:Y259C;ENSP00000317671:Y259C	ENSP00000317671:Y259C	Y	+	2	0	C12orf40	38362769	0.036000	0.19791	0.009000	0.14445	0.121000	0.20230	1.401000	0.34589	0.525000	0.28522	-0.649000	0.03915	TAC			0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257664.2		NM_173599		G	40076502	A	G	40076502	3	3	15	1	0	0	0	0	1	0	0	0	1688	391	14	4	806	4	C12orf40	12	40076502	Missense_Mutation	SNP	A	TCGA-2G-AAFV-01A-11D-A42Y-10	33410184	40076502	93775393	41	960											
LRRK2	120892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	40757322	40757322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggataagaaaactgaaaaaCtctgtggactaatagactgc	17	8	10	6	0	1	3	0	1	1	2	1	5	1	5	0	2	3	0	0	2	7	3			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr12:40757322C>T	ENST00000298910.7	+	48	7205	c.7147C>T	c.(7147-7149)Ctc>Ttc	p.L2383F		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2383					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)			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)				AACTGAAAAACTCTGTGGACT	0.378																																					p.L2383F													.	.			0			c.C7147T												119	122	121					12																	40757322		2203	4300	6503	SO:0001583	missense	120892	exon48			GAAAAACTCTGTG	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.7147C>T	12.37:g.40757322C>T	ENSP00000298910:p.Leu2383Phe		118	0	0		131	0.24	32	NM_198578	6	0	0	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353638	0.61293	.	.	ENSG00000188906	ENST00000298910	T	0.38240	1.15	5.28	5.28	0.74379	WD40 repeat-like-containing domain (1);Armadillo-like helical (1);	0.209202	0.48767	D	0.000178	T	0.46541	0.1398	L	0.56769	1.78	0.33025	D	0.529374	D;D	0.57899	0.981;0.981	P;P	0.52514	0.701;0.701	T	0.61372	-0.7076	10	0.54805	T	0.06	.	13.4929	0.61407	0.1565:0.8435:0.0:0.0	.	2383;2383	Q17RV3;Q5S007	.;LRRK2_HUMAN	F	2383	ENSP00000298910:L2383F	ENSP00000298910:L2383F	L	+	1	0	LRRK2	39043589	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.792000	0.47837	2.475000	0.83589	0.467000	0.42956	CTC			0.378	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000277179.1		XM_058513		T	40757322	C	T	40757322	3	4	15	1	0	0	0	0	1	0	0	0	9049	565	20	3	7337	3	LRRK2	12	40757322	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	680820	40757322	93094573	42	961											
CLIP1	6249	mdanderson.org	37	chr12	122819222	122819222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acttctctgaacagagactgCctcctctgaagcttcagcaa	11	10	7	13	0	3	3	1	2	2	1	5	4	4	3	2	0	4	2	2	0	3	2			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr12:122819222C>T	ENST00000540338.1	-	12	2640	c.2599G>A	c.(2599-2601)Gca>Aca	p.A867T	CLIP1_ENST00000361654.4_Missense_Mutation_p.A745T|CLIP1_ENST00000545889.1_Missense_Mutation_p.A442T|CLIP1_ENST00000358808.2_Missense_Mutation_p.A856T|CLIP1_ENST00000302528.7_Missense_Mutation_p.A856T|CLIP1_ENST00000537178.1_Missense_Mutation_p.A821T			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	867					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACAGAGACTGCCTCCTCTGAA	0.368																																					p.A867T													.	.			0			c.G2599A												55	55	55					12																	122819222		2203	4298	6501	SO:0001583	missense	6249	exon13			AGACTGCCTCCTC		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2599G>A	12.37:g.122819222C>T	ENSP00000439093:p.Ala867Thr		25	0	0		40	0.08	3	NM_001247997	36	0	0	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002904	0.35320	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;D	0.82893	2.73;-1.19;-1.19;0.7;0.7;-1.66	5.47	3.48	0.39840	.	0.561250	0.19247	N	0.119023	T	0.78317	0.4264	L	0.58101	1.795	0.36132	D	0.846205	B;B;B	0.30937	0.019;0.011;0.301	B;B;B	0.32677	0.06;0.06;0.15	T	0.76291	-0.3013	10	0.19590	T	0.45	-4.655	11.2257	0.48882	0.1528:0.7728:0.0:0.0744	.	821;856;867	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	T	442;856;856;586;821;867;714	ENSP00000438743:A442T;ENSP00000303585:A856T;ENSP00000351665:A856T;ENSP00000445531:A821T;ENSP00000439093:A867T;ENSP00000437786:A714T	ENSP00000303585:A856T	A	-	1	0	CLIP1	121385175	0.998000	0.40836	0.985000	0.45067	0.347000	0.29111	0.794000	0.26958	1.310000	0.45006	-0.253000	0.11424	GCA			0.368	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000401625.1		NM_002956		T	122819222	C	T	122819222	3	4	15	1	0	0	0	0	1	0	0	0	3534	739	26	2	1773	2	CLIP1	12	122819222	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	82061900	122819222	11032673	43	962											
ATP8A2	51761	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	26133183	26133183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaagaagtgcagcattGccggagtaacctatgggtca	12	10	11	8	1	1	1	1	0	0	1	1	2	1	2	2	2	4	3	2	2	4	5			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr13:26133183G>T	ENST00000381655.2	+	14	1478	c.1336G>T	c.(1336-1338)Gcc>Tcc	p.A446S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A406S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	406					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|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)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GTGCAGCATTGCCGGAGTAAC	0.308																																					p.A446S													.	ATP8A2	181		0			c.G1336T												138	129	132					13																	26133183		1895	4137	6032	SO:0001583	missense	51761	exon14			AGCATTGCCGGAG	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1336G>T	13.37:g.26133183G>T	ENSP00000371070:p.Ala446Ser		90	0	0		71	0.1	7	NM_016529	0		0	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598067	0.87055	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.61859	0.07;0.07	4.47	4.47	0.54385	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.058546	0.64402	D	0.000002	T	0.75466	0.3853	M	0.74546	2.27	0.58432	D	0.999993	D;D;D	0.62365	0.991;0.982;0.991	D;D;D	0.70016	0.967;0.911;0.967	T	0.79276	-0.1870	10	0.66056	D	0.02	.	17.3213	0.87236	0.0:0.0:1.0:0.0	.	406;406;406	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	S	446;406;226	ENSP00000371070:A446S;ENSP00000255283:A406S	ENSP00000255283:A406S	A	+	1	0	ATP8A2	25031183	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.591000	0.98241	2.326000	0.78906	0.542000	0.68232	GCC			0.308	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044236.2		NM_016529		T	26133183	G	T	26133183	3	4	15	1	0	0	0	0	1	0	0	0	1193	1319	46	2	1390	2	ATP8A2	13	26133183	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10		26133183	89036695	44	963											
CPNE6	9362	broad.mit.edu	37	chr14	24546820	24546820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgccccctctgcactcGccaagtgtgtcctggctgag	5	9	12	15	1	1	1	0	1	1	0	3	1	2	1	4	2	2	3	4	2	1	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr14:24546820G>A	ENST00000397016.2	+	17	1866	c.1555G>A	c.(1555-1557)Gcc>Acc	p.A519T	CPNE6_ENST00000216775.2_Missense_Mutation_p.A519T|CPNE6_ENST00000537691.1_Missense_Mutation_p.A574T	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	519	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.A519T(1)		endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CTCTGCACTCGCCAAGTGTGT	0.642																																					p.A519T													CPNE6,NS,carcinoma,0,1	CPNE6	40	1	1	Substitution - Missense(1)	endometrium(1)	c.G1555A												99	107	105					14																	24546820		2203	4300	6503	SO:0001583	missense	9362	exon16			GCACTCGCCAAGT	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1555G>A	14.37:g.24546820G>A	ENSP00000380211:p.Ala519Thr		107	0.0093457944	1		99	0.04	4	NM_006032	8	0	0	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787029	0.70337	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.10960	2.82;2.86;2.86	4.63	3.74	0.42951	von Willebrand factor, type A (1);	0.000000	0.47455	D	0.000228	T	0.36386	0.0965	M	0.91406	3.205	0.46458	D	0.999058	D;D	0.69078	0.997;0.99	D;P	0.66497	0.944;0.779	T	0.38585	-0.9654	10	0.72032	D	0.01	-4.2944	10.4612	0.44581	0.0951:0.0:0.9049:0.0	.	574;519	F5GXN1;O95741	.;CPNE6_HUMAN	T	574;519;519	ENSP00000440077:A574T;ENSP00000380211:A519T;ENSP00000216775:A519T	ENSP00000216775:A519T	A	+	1	0	CPNE6	23616660	1.000000	0.71417	0.624000	0.29186	0.656000	0.38851	8.160000	0.89653	1.164000	0.42652	0.561000	0.74099	GCC			0.642	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071869.5				A	24546820	G	A	24546820	3	1	15	1	0	0	0	0	1	0	0	0	3818	1087	38	1	1613	1	CPNE6	14	24546820	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10		24546820	82802720	45	964											
RALGAPA1	253959	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	36194331	36194332	+	Frame_Shift_Del	DEL	CT	CT	-																															cttcagtacagattccgtgaCtctgagcaacacaagcagca																										TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	CT	CT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr14:36194331_36194332delCT	ENST00000389698.3	-	14	2154_2155	c.1764_1765delAG	c.(1762-1767)agagtcfs	p.RV588fs	RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.RV588fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.RV588fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Frame_Shift_Del_p.RV588fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	588					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GATTCCGTGACTCTGAGCAACA	0.381																																					p.589_589del													.	RALGAPA1	289		0			c.1765_1766del																																									SO:0001589	frameshift_variant	253959	exon14			CCGTGACTCTGAG	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1764_1765delAG	14.37:g.36194333_36194334delCT	ENSP00000374348:p.Arg588fs		195	0	0		241	0.16	38	NM_014990	11	0	0	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Del	DEL	ENST00000389698.3	37	CCDS32065.1																																																																																					0.381	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000409829.1		XM_210022		-	36194332	CT	-	36194331	7	5	15	1	0	1	0	1	0	0	0	0	13036	565	20	0	4606	0	RALGAPA1	14	36194331	Frame_Shift_Del	DEL	CT	TCGA-2G-AAFV-01A-11D-A42Y-10	11647511	36194331	71155209	46	965											
ZFYVE19	84936	mdanderson.org	37	chr15	41104995	41104995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggagaagagcagactgCtggctgaggcagcacttgag	12	5	17	7	0	0	5	0	2	0	3	0	7	0	6	0	4	3	5	0	4	1	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr15:41104995C>T	ENST00000355341.4	+	7	1426	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	ZFYVE19_ENST00000570108.1_Silent_p.L286L|ZFYVE19_ENST00000336455.5_Silent_p.L299L|ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000564258.1_Silent_p.L134L	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	309					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GAGCAGACTGCTGGCTGAGGC	0.607																																					p.L309L													.	.			0			c.C925T												74	83	80					15																	41104995		2060	4194	6254	SO:0001819	synonymous_variant	84936	exon7			AGACTGCTGGCTG	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.925C>T	15.37:g.41104995C>T			30	0	0		38	0.08	3	NM_001077268	43	0	0	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	CCDS42025.1																																																																																					0.607	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000418996.1		NM_032850		T	41104995	C	T	41104995	2	4	15	1	0	0	0	0	0	0	0	1	17688	796	28	2		2	ZFYVE19	15	41104995	Silent	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10		41104995	61426397	47	966											
ONECUT1	3175	broad.mit.edu	37	chr15	53082011	53082011	+	Frame_Shift_Del	DEL	G	G	-																															tgccgcccagcaggtcggcaGgggcgggcaccggctcatgg																										TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr15:53082011delG	ENST00000305901.5	-	1	198	c.71delC	c.(70-72)cctfs	p.P24fs	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	24					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	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)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CAGGTCGGCAGGGGCGGGCAC	0.751																																					p.P24fs													.	ONECUT1	48		0			c.71delC												7	8	8					15																	53082011		1634	3529	5163	SO:0001589	frameshift_variant	3175	exon1			TCGGCAGGGGCGG	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.71delC	15.37:g.53082011delG	ENSP00000302630:p.Pro24fs		4	0	0		6	0.33	2	NM_004498	1	0	0	B2RTV4|Q99744|Q9UMR6	Frame_Shift_Del	DEL	ENST00000305901.5	37	CCDS10150.1																																																																																					0.751	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254849.2				-	53082011	G	-	53082011	7	5	15	1	0	1	0	1	0	0	0	0	10885	1000	35	0	1334	0	ONECUT1	15	53082011	Frame_Shift_Del	DEL	G	TCGA-2G-AAFV-01A-11D-A42Y-10	11977016	53082011	49449381	48	967											
BTBD12	84464	mdanderson.org	37	chr16	3639795	3639795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccgcctgcacggccaGcccgctcctgaggctgctga	6	6	12	17	3	1	2	1	2	0	0	2	2	2	2	5	2	3	4	5	2	0	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr16:3639795G>T	ENST00000294008.3	-	12	4484	c.3844C>A	c.(3844-3846)Ctg>Atg	p.L1282M		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1282	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						TGCACGGCCAGCCCGCTCCTG	0.632								Direct reversal of damage																													p.L1282M													.	.			0			c.C3844A												111	106	108					16																	3639795		2197	4300	6497	SO:0001583	missense	84464	exon12			CGGCCAGCCCGCT	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.3844C>A	16.37:g.3639795G>T	ENSP00000294008:p.Leu1282Met		50	0	0		38	0.08	3	NM_032444	11	0	0	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620577	0.46736	.	.	ENSG00000188827	ENST00000294008	T	0.01126	5.3	6.07	-10.9	0.00192	.	1.586400	0.03565	N	0.227682	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	P	0.35600	0.511	B	0.29353	0.101	T	0.49634	-0.8919	10	0.45353	T	0.12	.	6.5571	0.22466	0.1247:0.2098:0.539:0.1265	.	1282	Q8IY92	SLX4_HUMAN	M	1282	ENSP00000294008:L1282M	ENSP00000294008:L1282M	L	-	1	2	SLX4	3579796	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.831000	0.04405	-1.506000	0.01805	-0.262000	0.10625	CTG			0.632	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157301.3		NM_032444		T	3639795	G	T	3639795	3	4	15	1	0	0	0	0	1	0	0	0	1542	962	34	2	1676	2	BTBD12	16	3639795	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10		3639795	86714958	49	968											
ACSM3	6296	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	20796358	20796358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctggggaaccaattaccCctgacgtgactgaaaaatgg	12	8	12	9	1	0	3	0	3	0	0	0	4	0	4	3	3	3	1	3	3	5	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr16:20796358C>T	ENST00000289416.5	+	8	1547	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000440284.2_Missense_Mutation_p.P358S|RNU6-944P_ENST00000364023.1_RNA|ACSM3_ENST00000450120.2_Missense_Mutation_p.P350S	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	358					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ACCAATTACCCCTGACGTGAC	0.423																																					p.P358S													.	.			0			c.C1072T												128	117	121					16																	20796358		2201	4300	6501	SO:0001583	missense	6296	exon8			ATTACCCCTGACG	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1072C>T	16.37:g.20796358C>T	ENSP00000289416:p.Pro358Ser		99	0	0		80	0.09	7	NM_005622	19	0.11	2	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124771	0.37533	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.46063	0.88;0.88;0.88	5.34	3.38	0.38709	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.62209	1.925	0.80722	D	1	P;B;P	0.45474	0.809;0.339;0.859	P;B;B	0.48770	0.589;0.31;0.417	T	0.49457	-0.8938	10	0.72032	D	0.01	-8.0856	10.9041	0.47069	0.1299:0.8021:0.0:0.068	.	350;358;358	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	S	358;358;350	ENSP00000289416:P358S;ENSP00000394565:P358S;ENSP00000395297:P350S	ENSP00000289416:P358S	P	+	1	0	ACSM3	20703859	1.000000	0.71417	0.657000	0.29651	0.241000	0.25554	2.301000	0.43628	0.744000	0.32741	-0.152000	0.13540	CCT			0.423	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254414.2		NM_005622		T	20796358	C	T	20796358	3	4	15	1	0	0	0	0	1	0	0	0	185	623	22	3	1098	3	ACSM3	16	20796358	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	17156563	20796358	69558395	50	969											
TGFB1I1	7041	mdanderson.org	37	chr16	31484827	31484827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggggctcccaaagagCgccctgcggagcctctcacc	7	5	13	16	2	2	1	2	0	1	1	4	2	3	2	4	4	3	1	4	4	1	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr16:31484827C>T	ENST00000394863.3	+	2	209	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.R10C|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.R10C|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.R10C	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	27	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|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, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						TCCCAAAGAGCGCCCTGCGGA	0.647																																					p.R27C													TGFB1I1_ENST00000394863,NS,carcinoma,0,2	TGFB1I1_ENST00000394863	0	2	0			c.C79T												44	49	48					16																	31484827		2197	4300	6497	SO:0001583	missense	7041	exon2			AAAGAGCGCCCTG	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.79C>T	16.37:g.31484827C>T	ENSP00000378332:p.Arg27Cys		60	0	0		46	0.07	3	NM_001042454	54	0	0	B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403637	0.42613	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.56941	0.43;0.43;0.43	4.52	2.53	0.30540	.	0.225948	0.36200	N	0.002735	T	0.44561	0.1299	L	0.34521	1.04	0.33925	D	0.641342	P	0.52842	0.956	P	0.45946	0.498	T	0.59532	-0.7437	10	0.62326	D	0.03	.	11.2719	0.49144	0.3305:0.6695:0.0:0.0	.	27	O43294	TGFI1_HUMAN	C	27;10;10	ENSP00000378332:R27C;ENSP00000355117:R10C;ENSP00000378327:R10C	ENSP00000355117:R10C	R	+	1	0	TGFB1I1	31392328	0.971000	0.33674	0.942000	0.38095	0.370000	0.29829	3.391000	0.52530	0.507000	0.28148	0.555000	0.69702	CGC			0.647	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255630.3				T	31484827	C	T	31484827	3	4	15	1	0	0	0	0	1	0	0	0	15840	768	27	1	85	1	TGFB1I1	16	31484827	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	10688469	31484827	58869926	51	970											
COG4	197258	hgsc.bcm.edu	37	chr16	70515315	70515315	+	IGR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccgggcaaacttgtctcGgatggtccaggtggtcaccg	7	8	15	11	3	2	0	1	0	1	0	4	2	3	1	3	5	2	1	3	5	1	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr16:70515315G>T	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Silent_p.R728R	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							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)				AACTTGTCTCGGATGGTCCAG	0.607																																					p.R728R													.	.			0			c.C2182A												100	97	98					16																	70515315		2198	4300	6498	SO:0001628	intergenic_variant	25839	exon18			TGTCTCGGATGGT		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		16.37:g.70515315G>T			89	0	0		74	0.05	4	NM_015386	162	0	0	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	CCDS10891.2																																																																																					0.607	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157291.2		NM_145059		T	70515315	G	T	70515315	1	4	15	0	1	0	0	0	0	0	0	0	3662	1124	39	1		1	COG4	16	70515315	IGR	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	39030488	70515315	19839438	52	971											
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	4016010	4016010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctggcattcctccctacaGctactgtcacctgctgtggc	5	11	9	16	1	1	0	1	0	0	0	3	0	3	0	3	2	4	4	3	2	2	3			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr17:4016010G>A	ENST00000381638.2	-	5	1083	c.959C>T	c.(958-960)gCt>gTt	p.A320V	snoU13_ENST00000459263.1_RNA|ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	320	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.						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						CCTCCCTACAGCTACTGTCAC	0.512																																					p.A320V													.	.			0			c.C959T												99	69	79					17																	4016010		2203	4300	6503	SO:0001583	missense	23140	exon5			CCTACAGCTACTG	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.959C>T	17.37:g.4016010G>A	ENSP00000371051:p.Ala320Val		121	0	0		118	0.07	8	NM_015113	8	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686714	0.96784	.	.	ENSG00000074755	ENST00000381638	T	0.62941	-0.01	5.6	5.6	0.85130	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	L	0.51422	1.61	0.80722	D	1	D;D	0.61080	0.989;0.985	P;P	0.56563	0.796;0.801	T	0.74022	-0.3798	10	0.72032	D	0.01	-13.2277	19.606	0.95582	0.0:0.0:1.0:0.0	.	320;320	O43149-3;O43149	.;ZZEF1_HUMAN	V	320	ENSP00000371051:A320V	ENSP00000371051:A320V	A	-	2	0	ZZEF1	3962759	1.000000	0.71417	0.984000	0.44739	0.965000	0.64279	9.441000	0.97557	2.643000	0.89663	0.655000	0.94253	GCT			0.512	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207480.1		NM_015113		A	4016010	G	A	4016010	3	1	15	1	0	0	0	0	1	0	0	0	18278	971	34	2	8130	2	ZZEF1	17	4016010	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10		4016010	77179200	53	972											
MRC2	9902	broad.mit.edu	37	chr17	60769610	60769610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcttccagagaacccagCggccctggtggtggtgctga	7	7	15	12	2	0	2	0	1	0	1	1	3	1	2	3	4	4	2	3	4	1	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr17:60769610C>T	ENST00000303375.5	+	30	4640	c.4238C>T	c.(4237-4239)gCg>gTg	p.A1413V	MRC2_ENST00000446119.2_Missense_Mutation_p.A279V	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1413					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGAACCCAGCGGCCCTGGTG	0.682																																					p.A1413V													.	MRC2	126		0			c.C4238T												31	27	29					17																	60769610		2203	4300	6503	SO:0001583	missense	9902	exon30			ACCCAGCGGCCCT	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.4238C>T	17.37:g.60769610C>T	ENSP00000307513:p.Ala1413Val		124	0.0161290323	2		155	0.03	4	NM_006039	244	0	0	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335451	0.41398	.	.	ENSG00000011028	ENST00000303375;ENST00000446119	T;T	0.05199	3.48;4.07	5.28	3.24	0.37175	.	0.246012	0.40818	N	0.001013	T	0.02727	0.0082	N	0.08118	0	0.09310	N	0.999997	B;B	0.15719	0.014;0.002	B;B	0.08055	0.003;0.001	T	0.47169	-0.9138	10	0.12766	T	0.61	-7.8202	5.8092	0.18457	0.143:0.6421:0.1382:0.0766	.	279;1413	E7EME3;Q9UBG0	.;MRC2_HUMAN	V	1413;279	ENSP00000307513:A1413V;ENSP00000400445:A279V	ENSP00000307513:A1413V	A	+	2	0	MRC2	58123342	0.050000	0.20438	0.485000	0.27403	0.717000	0.41224	1.450000	0.35134	0.579000	0.29504	0.561000	0.74099	GCG			0.682	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445152.1				T	60769610	C	T	60769610	3	4	15	1	0	0	0	0	1	0	0	0	9774	768	27	1	4356	1	MRC2	17	60769610	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	56753600	60769610	20425600	54	973											
CD79B	974	mdanderson.org	37	chr17	62007156	62007156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaggaagataggcaCgatgatgaagaggatgatca	16	5	14	6	1	1	5	1	3	0	2	1	8	1	7	0	3	2	3	0	3	3	1	rs148032848		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr17:62007156C>A	ENST00000006750.3	-	4	615	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L	CD79B_ENST00000392795.3_Missense_Mutation_p.V176L|CD79B_ENST00000349817.2_Missense_Mutation_p.V71L	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	175					B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						AAGATAGGCACGATGATGAAG	0.582			"Mis, O"		DLBCL																																p.V176L				Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	CD79B,colon,carcinoma,0,1	CD79B	0	1	0			c.G526T												120	88	99					17																	62007156		2203	4300	6503	SO:0001583	missense	974	exon4			TAGGCACGATGAT	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.523G>T	17.37:g.62007156C>A	ENSP00000006750:p.Val175Leu		19	0	0		26	0.08	2	NM_001039933	15	0	0	Q53FS2|Q9BU06	Missense_Mutation	SNP	ENST00000006750.3	37	CCDS11655.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716799	0.89205	.	.	ENSG00000007312	ENST00000349817;ENST00000392795;ENST00000006750	T;T	0.81330	-1.48;-1.48	5.24	5.24	0.73138	.	0.067356	0.64402	D	0.000013	D	0.84142	0.5407	L	0.32530	0.975	0.48135	D	0.999596	D;D	0.76494	0.996;0.999	D;D	0.79108	0.992;0.99	D	0.85552	0.1222	10	0.66056	D	0.02	-39.6781	14.3142	0.66437	0.0:1.0:0.0:0.0	.	71;175	P40259-2;P40259	.;CD79B_HUMAN	L	71;176;175	ENSP00000376544:V176L;ENSP00000006750:V175L	ENSP00000006750:V175L	V	-	1	0	CD79B	59360888	0.990000	0.36364	0.999000	0.59377	0.962000	0.63368	2.422000	0.44696	2.456000	0.83038	0.491000	0.48974	GTG			0.582	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417711.1				A	62007156	C	A	62007156	3	1	15	1	0	0	0	0	1	0	0	0	3039	536	19	1	178	1	CD79B	17	62007156	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	1237546	62007156	19188054	55	974											
AP3D1	8943	mdanderson.org	37	chr19	2121000	2121000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgcggatggccttcaCgcggatggccacgtccagca	8	7	13	13	4	1	0	1	0	0	0	2	3	2	2	3	4	3	1	3	4	1	2			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr19:2121000C>T	ENST00000345016.5	-	14	1573	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	AP3D1_ENST00000355272.6_Missense_Mutation_p.V448M|AP3D1_ENST00000350812.6_Missense_Mutation_p.V279M|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000356926.4_Missense_Mutation_p.V357M	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	448					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)		ATGGCCTTCACGCGGATGGCC	0.652																																					p.V448M													.	.			0			c.G1342A												61	68	65					19																	2121000		2189	4278	6467	SO:0001583	missense	8943	exon14			CCTTCACGCGGAT	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.1342G>A	19.37:g.2121000C>T	ENSP00000344055:p.Val448Met		33	0	0		38	0.08	3	NM_001261826	160	0	0	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810921	0.90707	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.57	4.57	0.56435	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	H	0.96970	3.915	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	0.82018	-0.0665	10	0.87932	D	0	-31.2171	16.3169	0.82931	0.0:1.0:0.0:0.0	.	448;448;357	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	M	357;448;448;448;279	ENSP00000349398:V357M;ENSP00000344055:V448M;ENSP00000347416:V448M;ENSP00000342321:V279M	ENSP00000341579:V448M	V	-	1	0	AP3D1	2072000	1.000000	0.71417	0.836000	0.33094	0.899000	0.52679	7.648000	0.83479	2.103000	0.63969	0.462000	0.41574	GTG			0.652	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000450912.1				T	2121000	C	T	2121000	3	4	15	1	0	0	0	0	1	0	0	0	746	536	19	1	2345	1	AP3D1	19	2121000	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10		2121000	57007983	56	975											
LINGO3	645191	mdanderson.org	37	chr19	2291166	2291166	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggccaggtggcgcagccGcagggcgcccaggctgcgca	6	3	18	14	4	0	0	0	0	0	0	0	1	0	0	3	5	2	4	3	5	0	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr19:2291166G>T	ENST00000585527.1	-	1	857	c.610C>A	c.(610-612)Cgg>Agg	p.R204R	LINGO3_ENST00000404279.1_Silent_p.R204R			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	204						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						TGGCGCAGCCGCAGGGCGCCC	0.711																																					p.R204R													.	.			0			c.C610A												7	9	8					19																	2291166		1915	4041	5956	SO:0001819	synonymous_variant	645191	exon2			GCAGCCGCAGGGC	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.610C>A	19.37:g.2291166G>T			28	0	0		40	0.08	3	NM_001101391	1	0	0		Silent	SNP	ENST00000585527.1	37	CCDS45905.1																																																																																					0.711	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000451291.2		NM_001101391		T	2291166	G	T	2291166	2	4	15	1	0	0	0	0	0	0	0	1	8831	1086	38	1		1	LINGO3	19	2291166	Silent	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	170166	2291166	56837817	57	976											
PNPLA6	10908	broad.mit.edu	37	chr19	7626396	7626396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagaagtcgattctccGgcaacgacgctgtctgcccc	8	7	13	13	4	2	1	0	0	2	1	4	5	2	2	3	3	2	2	3	3	2	1	rs368661376		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr19:7626396G>A	ENST00000221249.6	+	35	4363	c.3932G>A	c.(3931-3933)cGg>cAg	p.R1311Q	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1284Q|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1311Q|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1359Q|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1349Q	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1350					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGATTCTCCGGCAACGACGC	0.657																																					p.R1359Q													.	PNPLA6	163		0			c.G4076A							G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405		0,1,2202	51	35	40		4076,3851,3932,4046,3932	3.4	0.3	19		40	2,8596		0,2,4297	no	missense,missense,missense,missense,missense	PNPLA6	NM_001166111.1,NM_001166112.1,NM_001166113.1,NM_001166114.1,NM_006702.4	43,43,43,43,43	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign,benign,benign	1359/1376,1284/1301,1311/1328,1349/1366,1311/1328	7626396	3,13001	2203	4299	6502	SO:0001583	missense	10908	exon34			TTCTCCGGCAACG	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3932G>A	19.37:g.7626396G>A	ENSP00000221249:p.Arg1311Gln		54	0	0		82	0.06	5	NM_001166111	69	0	0	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	15.09	2.729323	0.48833	2.27E-4	2.33E-4	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.04551	3.63;3.63;3.6;3.63	4.48	3.42	0.39159	.	0.245696	0.23296	N	0.049734	T	0.03095	0.0091	L	0.27053	0.805	0.19300	N	0.99997	B;B;B;B	0.30584	0.032;0.286;0.055;0.239	B;B;B;B	0.17722	0.005;0.019;0.01;0.014	T	0.43212	-0.9405	10	0.34782	T	0.22	-27.363	6.201	0.20575	0.1007:0.1907:0.7086:0.0	.	1350;1284;1349;1311	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	Q	1311;1284;1359;1311	ENSP00000221249:R1311Q;ENSP00000443323:R1284Q;ENSP00000407509:R1359Q;ENSP00000394348:R1311Q	ENSP00000221249:R1311Q	R	+	2	0	PNPLA6	7532396	0.003000	0.15002	0.281000	0.24762	0.225000	0.24961	1.089000	0.30890	1.074000	0.40909	0.561000	0.74099	CGG			0.657	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459275.1		NM_006702		A	7626396	G	A	7626396	3	1	15	1	0	0	0	0	1	0	0	0	12186	1116	39	1	4206	1	PNPLA6	19	7626396	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	5335230	7626396	51502587	58	977											
ASNA1	439	mdanderson.org	37	chr19	12856212	12856212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgaccccagcctgggcGtggcggagctgcctgacgag	7	6	16	12	3	0	3	0	2	0	1	0	5	0	4	4	3	3	1	4	3	0	1	rs373752704		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr19:12856212G>T	ENST00000591090.1	+	4	433	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L	ASNA1_ENST00000357332.3_Missense_Mutation_p.V111L					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						CAGCCTGGGCGTGGCGGAGCT	0.622																																					p.V111L													.	.			0			c.G331T												54	49	51					19																	12856212		2203	4300	6503	SO:0001583	missense	439	exon3			CTGGGCGTGGCGG	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.331G>T	19.37:g.12856212G>T	ENSP00000466379:p.Val111Leu		29	0	0		30	0.1	3	NM_004317	430	0	0		Missense_Mutation	SNP	ENST00000591090.1	37	CCDS32920.1	.	.	.	.	.	.	.	.	.	.	G	9.992	1.231127	0.22626	.	.	ENSG00000198356	ENST00000357332	T	0.40225	1.04	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	N	0.01817	-0.705	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.20706	-1.0267	10	0.02654	T	1	-42.7621	17.6674	0.88207	0.0:0.0:1.0:0.0	.	93;111	E7EVN0;O43681	.;ASNA_HUMAN	L	111	ENSP00000349887:V111L	ENSP00000349887:V111L	V	+	1	0	ASNA1	12717212	1.000000	0.71417	0.965000	0.40720	0.987000	0.75469	9.030000	0.93725	2.466000	0.83321	0.655000	0.94253	GTG			0.622	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450921.1		NM_004317		T	12856212	G	T	12856212	3	4	15	1	0	0	0	0	1	0	0	0	1047	1145	40	1	341	1	ASNA1	19	12856212	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	5229816	12856212	46272771	59	978											
CPAMD8	9002	mdanderson.org	37	chr19	17004142	17004142	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacaggaggccgaggcccgGctgtgaccctggagatgagg	8	5	17	11	2	1	3	1	2	0	1	1	6	1	4	3	6	0	1	3	6	0	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr19:17004142G>A	ENST00000248076.3	+	0	3473				CPAMD8_ENST00000443236.1_Missense_Mutation_p.A1859V|CPAMD8_ENST00000597335.1_5'Flank	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3						blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCGAGGCCCGGCTGTGACCCT	0.627																																					p.A1859V													.	.			0			c.C5576T												9	10	10					19																	17004142		1875	4036	5911	SO:0001628	intergenic_variant	27151	exon42			GGCCCGGCTGTGA	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0			19.37:g.17004142G>A			22	0	0		15	0.13	2	NM_015692	3	0	0	O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	CCDS12350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.714|2.714	-0.268214|-0.268214	0.05716|0.05716	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	1.61|1.61	-3.22|-3.22	0.05125|0.05125	.|.	.|.	.|.	.|.	.|.	T|T	0.13586|0.13586	0.0329|0.0329	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.17289|0.17289	-1.0374|-1.0374	8|5	0.02654|.	T|.	1|.	.|.	4.6496|4.6496	0.12589|0.12589	0.0:0.3804:0.3411:0.2785|0.0:0.3804:0.3411:0.2785	.|.	1812|.	Q8IZJ3|.	CPMD8_HUMAN|.	V|S	1859|1870	.|.	ENSP00000291440:A1859V|.	A|P	-|-	2|1	0|0	CPAMD8|CPAMD8	16865142|16865142	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.050000|-2.050000	0.01404|0.01404	-2.004000|-2.004000	0.00961|0.00961	-0.534000|-0.534000	0.04291|0.04291	GCC|CCG			0.627	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462875.1				A	17004142	G	A	17004142	1	1	15	0	1	0	0	0	0	0	0	0	3797	1203	42	2		2	CPAMD8	19	17004142	IGR	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	4147930	17004142	42124841	60	979											
MAG	4099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	35800891	35800891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctttgagctgccatcgcGcaatgtgaccgtgaacgaga	9	8	13	11	4	0	4	0	3	0	1	1	5	0	4	3	1	3	2	3	1	2	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr19:35800891G>A	ENST00000392213.3	+	8	1505	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	MAG_ENST00000361922.4_Missense_Mutation_p.R449H|MAG_ENST00000537831.2_Missense_Mutation_p.R424H|MAG_ENST00000593348.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	449	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGCCATCGCGCAATGTGACC	0.682																																					p.R449H													.	.			0			c.G1346A												77	71	73					19																	35800891		2203	4300	6503	SO:0001583	missense	4099	exon8			CATCGCGCAATGT	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1346G>A	19.37:g.35800891G>A	ENSP00000376048:p.Arg449His		50	0	0		79	0.14	11	NM_080600	7	0	0	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110001	0.77210	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13657	2.57;2.57;2.57	4.8	4.8	0.61643	.	0.135266	0.50627	D	0.000109	T	0.19046	0.0457	N	0.24115	0.695	0.36035	D	0.839685	D;D;D	0.89917	1.0;0.999;1.0	D;P;P	0.63192	0.912;0.861;0.899	T	0.07195	-1.0785	10	0.41790	T	0.15	.	10.4373	0.44443	0.0:0.0:0.8056:0.1944	.	486;449;449	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	H	486;449;449;424	ENSP00000355234:R449H;ENSP00000376048:R449H;ENSP00000440695:R424H	ENSP00000262624:R486H	R	+	2	0	MAG	40492731	0.995000	0.38212	1.000000	0.80357	0.971000	0.66376	2.984000	0.49353	2.497000	0.84241	0.462000	0.41574	CGC			0.682	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000466071.1		NM_080600		A	35800891	G	A	35800891	3	1	15	1	0	0	0	0	1	0	0	0	9178	1087	38	1	1368	1	MAG	19	35800891	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	18796749	35800891	23328092	61	980											
DHDH	27294	mdanderson.org	37	chr19	49438356	49438356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctatgaggagctggccaagGacccgagcgtgggtgagtgg	8	6	18	9	2	0	2	0	2	0	0	0	5	0	4	3	5	2	1	3	5	2	1			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr19:49438356G>T	ENST00000221403.2	+	2	230	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	DHDH_ENST00000523250.1_Missense_Mutation_p.D64Y|DHDH_ENST00000522614.1_Missense_Mutation_p.D64Y	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	64					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		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;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GCTGGCCAAGGACCCGAGCGT	0.697																																					p.D64Y													.	.			0			c.G190T																																									SO:0001583	missense	27294	exon2			GCCAAGGACCCGA	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.190G>T	19.37:g.49438356G>T	ENSP00000221403:p.Asp64Tyr		24	0	0		33	0.09	3	NM_014475	0		0		Missense_Mutation	SNP	ENST00000221403.2	37	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891989	0.72524	.	.	ENSG00000104808	ENST00000221403;ENST00000523250;ENST00000522614	T;T;T	0.28895	1.59;1.59;1.59	4.75	4.75	0.60458	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.204155	0.49305	D	0.000156	T	0.68183	0.2973	H	0.96633	3.855	0.58432	D	0.999999	D	0.71674	0.998	D	0.70935	0.971	T	0.79662	-0.1710	10	0.72032	D	0.01	-30.2084	15.6293	0.76888	0.0:0.0:1.0:0.0	.	64	Q9UQ10	DHDH_HUMAN	Y	64	ENSP00000221403:D64Y;ENSP00000428935:D64Y;ENSP00000428672:D64Y	ENSP00000221403:D64Y	D	+	1	0	DHDH	54130168	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.275000	0.65575	2.626000	0.88956	0.455000	0.32223	GAC			0.697	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381477.1		NM_014475		T	49438356	G	T	49438356	3	4	15	1	0	0	0	0	1	0	0	0	4484	1174	41	3	196	3	DHDH	19	49438356	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	13637465	49438356	9690627	62	981											
ZIM3	114026	broad.mit.edu	37	chr19	57649920	57649920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggattcagccgctgccacTccccctgggtgaagttcaca	7	8	11	15	2	2	1	2	1	0	0	3	2	3	2	4	2	2	2	4	2	1	2			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr19:57649920T>C	ENST00000269834.1	-	3	447	c.62A>G	c.(61-63)gAg>gGg	p.E21G		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCGCTGCCACTCCCCCTGGGT	0.517																																					p.E21G													.	ZIM3	107		0			c.A62G												99	89	92					19																	57649920		2203	4300	6503	SO:0001583	missense	0	exon3			TGCCACTCCCCCT	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.62A>G	19.37:g.57649920T>C	ENSP00000269834:p.Glu21Gly		98	0	0		90	0.04	4	NM_052882	0		0	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026973	0.54683	.	.	ENSG00000141946	ENST00000269834	T	0.12255	2.7	2.42	2.42	0.29668	Krueppel-associated box (4);	.	.	.	.	T	0.26774	0.0655	H	0.96015	3.755	0.09310	N	1	P	0.45902	0.868	B	0.38921	0.285	T	0.38308	-0.9667	9	0.87932	D	0	.	8.0425	0.30529	0.0:0.0:0.0:1.0	.	21	Q96PE6	ZIM3_HUMAN	G	21	ENSP00000269834:E21G	ENSP00000269834:E21G	E	-	2	0	ZIM3	62341732	0.968000	0.33430	0.001000	0.08648	0.278000	0.26855	2.238000	0.43070	0.975000	0.38392	0.172000	0.16884	GAG			0.517	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465078.1				C	57649920	T	C	57649920	3	2	15	1	0	0	0	0	1	0	0	0	17708	1551	54	4	1368	4	ZIM3	19	57649920	Missense_Mutation	SNP	T	TCGA-2G-AAFV-01A-11D-A42Y-10	8211564	57649920	1479063	63	982											
PDYN	5173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	1961480	1961480	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcccttccccaaccgacTtgctccccaagtcctccttg	6	9	7	19	1	0	0	0	0	0	0	4	1	4	0	8	1	2	1	8	1	2	3			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr20:1961480T>G	ENST00000217305.2	-	4	479	c.254A>C	c.(253-255)aAg>aCg	p.K85T	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.K85T|PDYN_ENST00000540134.1_Missense_Mutation_p.K85T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	85					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAACCGACTTGCTCCCCAA	0.547																																					p.K85T													.	.			0			c.A254C												79	76	77					20																	1961480		2203	4300	6503	SO:0001583	missense	5173	exon4			ACCGACTTGCTCC		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.254A>C	20.37:g.1961480T>G	ENSP00000217305:p.Lys85Thr		177	0	0		144	0.33	48	NM_001190898	0		0	A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	T	6.805	0.517645	0.13005	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80653	-1.4;-1.4;-1.4	4.44	-1.04	0.10068	.	1.101910	0.06855	N	0.798087	T	0.63546	0.2520	L	0.34521	1.04	0.09310	N	1	B	0.28636	0.218	B	0.24006	0.05	T	0.45833	-0.9234	10	0.21014	T	0.42	-9.0308	0.807	0.01086	0.1777:0.3056:0.162:0.3546	.	85	P01213	PDYN_HUMAN	T	85	ENSP00000440185:K85T;ENSP00000442259:K85T;ENSP00000217305:K85T	ENSP00000217305:K85T	K	-	2	0	PDYN	1909480	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.026000	0.12392	-0.034000	0.13713	0.402000	0.26972	AAG			0.547	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077569.2				G	1961480	T	G	1961480	3	3	15	1	0	0	0	0	1	0	0	0	11716	1609	56	4	514	4	PDYN	20	1961480	Missense_Mutation	SNP	T	TCGA-2G-AAFV-01A-11D-A42Y-10		1961480	61064040	64	983											
PLCB1	23236	mdanderson.org	37	chr20	8705341	8705341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatggccacagaagaaatGtctaatctggtgaactatat	14	11	9	7	0	2	3	0	1	2	2	2	3	2	3	1	2	1	1	1	2	7	4			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr20:8705341G>T	ENST00000338037.6	+	16	1647	c.1620G>T	c.(1618-1620)atG>atT	p.M540I	PLCB1_ENST00000378637.2_Missense_Mutation_p.M540I|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.M540I	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	540	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				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						CAGAAGAAATGTCTAATCTGG	0.368																																					p.G540G													.	.			0			c.C1620T												73	78	77					20																	8705341		2203	4300	6503	SO:0001583	missense	23236	exon16			AGAAATGTCTAAT	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.1620G>T	20.37:g.8705341G>T	ENSP00000338185:p.Met540Ile		77	0	0		71	0.06	4	NM_015192	9	0	0	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025906	0.75390	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.66460	-0.21;-0.21;-0.21	5.29	5.29	0.74685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	L	0.33093	0.98	0.80722	D	1	P;D	0.64830	0.926;0.994	P;D	0.81914	0.816;0.995	T	0.74688	-0.3581	10	0.44086	T	0.13	.	19.2977	0.94129	0.0:0.0:1.0:0.0	.	540;540	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	I	540;540;540;460;460	ENSP00000367908:M540I;ENSP00000338185:M540I;ENSP00000367904:M540I	ENSP00000338185:M540I	M	+	3	0	PLCB1	8653341	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.869000	0.99810	2.627000	0.88993	0.563000	0.77884	ATG			0.368	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077938.3				T	8705341	G	T	8705341	3	4	15	1	0	0	0	0	1	0	0	0	12044	1377	48	3	1682	3	PLCB1	20	8705341	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	6743861	8705341	54320179	65	984											
TOP1	7150	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	39751878	39751894	+	Frame_Shift_Del	DEL	ACCCAGCGGGAGAAGTT	ACCCAGCGGGAGAAGTT	-																															ttgagaagatttacaacaaaAcccagcgggagaagtttgcc																								rs56111014		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	ACCCAGCGGGAGAAGTT	ACCCAGCGGGAGAAGTT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr20:39751878_39751894delACCCAGCGGGAGAAGTT	ENST00000361337.2	+	21	2489_2505	c.2239_2255delACCCAGCGGGAGAAGTT	c.(2239-2256)acccagcgggagaagtttfs	p.TQREKF747fs	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	747					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.T747P(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	TTACAACAAAACCCAGCGGGAGAAGTTTGCCTGGGCC	0.479			T	NUP98	AML*																																p.746_752del				Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	TOP1	71		1	Substitution - Missense(1)	prostate(1)	c.2238_2254del																																									SO:0001589	frameshift_variant	7150	exon21			AACAAAACCCAGC		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.2239_2255delACCCAGCGGGAGAAGTT	20.37:g.39751878_39751894delACCCAGCGGGAGAAGTT	ENSP00000354522:p.Thr747fs		129	0	0		94	0.19	18	NM_003286	317	0	0	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Frame_Shift_Del	DEL	ENST00000361337.2	37	CCDS13312.1																																																																																					0.479	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080397.2				-	39751894	ACCCAGCGGGAGAAGTT	-	39751878	7	5	15	1	0	1	0	1	0	0	0	0	16387	43	2	0	2321	0	TOP1	20	39751878	Frame_Shift_Del	DEL	ACCCAGCGGGAGAAGTT	TCGA-2G-AAFV-01A-11D-A42Y-10	31046537	39751878	23273642	66	985											
SLC17A9	63910	mdanderson.org	37	chr20	61584208	61584208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacccccagacgaggcccGcagggacatggccggggaca	9	1	15	16	3	0	1	0	0	0	1	0	4	0	3	5	5	0	1	5	5	0	0			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr20:61584208G>A	ENST00000370351.4	+	1	157	c.26G>A	c.(25-27)cGc>cAc	p.R9H	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_5'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	9					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GACGAGGCCCGCAGGGACATG	0.736																																					p.R9H													.	.			0			c.G26A												7	13	11					20																	61584208		1391	2998	4389	SO:0001583	missense	63910	exon1			AGGCCCGCAGGGA	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.26G>A	20.37:g.61584208G>A	ENSP00000359376:p.Arg9His		15	0	0		18	0.17	3	NM_022082	6	0	0	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	3.090	-0.187162	0.06299	.	.	ENSG00000101194	ENST00000370351	T	0.59502	0.26	3.05	-1.14	0.09741	Major facilitator superfamily domain, general substrate transporter (1);	0.326920	0.29438	N	0.012156	T	0.37404	0.1002	L	0.29908	0.895	0.24770	N	0.992872	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	10	0.44086	T	0.13	.	6.1668	0.20394	0.5155:0.0:0.4845:0.0	.	9	Q9BYT1	S17A9_HUMAN	H	9	ENSP00000359376:R9H	ENSP00000359376:R9H	R	+	2	0	SLC17A9	61054653	0.000000	0.05858	0.012000	0.15200	0.009000	0.06853	-0.349000	0.07731	-0.215000	0.10063	-0.448000	0.05591	CGC			0.736	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080100.1		NM_022082		A	61584208	G	A	61584208	3	1	15	1	0	0	0	0	1	0	0	0	14447	1087	38	1	28	1	SLC17A9	20	61584208	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10	21832330	61584208	1441312	67	986											
SLC7A4	6545	mdanderson.org	37	chr22	21383511	21383511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccatagccgaaatacaCtgcaagtcctagacagggca	14	6	10	11	1	0	1	0	0	0	1	1	3	1	1	3	1	4	2	3	1	5	3			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr22:21383511C>T	ENST00000382932.2	-	5	1808	c.1741G>A	c.(1741-1743)Gtg>Atg	p.V581M	SLC7A4_ENST00000403586.1_Missense_Mutation_p.V581M|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	581					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCGAAATACACTGCAAGTCCT	0.612																																					p.V581M													.	.			0			c.G1741A												63	61	61					22																	21383511		2203	4300	6503	SO:0001583	missense	6545	exon5			AATACACTGCAAG	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1741G>A	22.37:g.21383511C>T	ENSP00000372390:p.Val581Met		48	0	0		29	0.1	3	NM_004173	29	0	0	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097911	0.76870	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.87029	-2.2;-2.2	5.23	5.23	0.72850	.	0.126462	0.52532	D	0.000071	D	0.94105	0.8110	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94541	0.7745	10	0.59425	D	0.04	.	16.6614	0.85241	0.0:1.0:0.0:0.0	.	581	O43246	CTR4_HUMAN	M	581	ENSP00000384278:V581M;ENSP00000372390:V581M	ENSP00000372390:V581M	V	-	1	0	SLC7A4	19713511	0.971000	0.33674	0.947000	0.38551	0.477000	0.33069	2.380000	0.44327	2.590000	0.87494	0.491000	0.48974	GTG			0.612	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320467.1		NM_004173		T	21383511	C	T	21383511	3	4	15	1	0	0	0	0	1	0	0	0	14722	565	20	3	170	3	SLC7A4	22	21383511	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10		21383511	29921055	68	987											
SUN2	25777	broad.mit.edu	37	chr22	39132280	39132280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaagcagggctagtgggCgggctccccatgcactctga	8	7	14	12	1	1	1	0	1	1	0	2	1	2	1	2	3	2	5	2	3	2	2	rs200715757		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chr22:39132280C>T	ENST00000405510.1	-	19	2504	c.2146G>A	c.(2146-2148)Gcc>Acc	p.A716T	SUN2_ENST00000216064.4_Missense_Mutation_p.A716T|SUN2_ENST00000405018.1_Missense_Mutation_p.A737T|SUN2_ENST00000406622.1_Missense_Mutation_p.A716T|SUN2_ENST00000411587.2_Missense_Mutation_p.A705T|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.20_ENST00000609428.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	716	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGCTAGTGGGCGGGCTCCCCA	0.642													C|||	1	0.000199681	0	0.0014	5008	,	,		16733	0		0	False		,,,				2504	0				p.A737T													.	SUN2	59		0			c.G2209A							C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	84	74	78		2146,2146,2209	0.3	0.3	22		78	0,8600		0,0,4300	no	missense,missense,missense	SUN2	NM_015374.2,NM_001199580.1,NM_001199579.1	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	716/718,716/718,737/739	39132280	1,13005	2203	4300	6503	SO:0001583	missense	25777	exon18			AGTGGGCGGGCTC	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.2146G>A	22.37:g.39132280C>T	ENSP00000385740:p.Ala716Thr		75	0	0		64	0.08	5	NM_001199579	148	0.04	6	B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	CCDS13978.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.657	0.899690	0.17686	2.27E-4	0.0	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.59	4.81	0.283	0.15696	Sad1/UNC-like, C-terminal (1);	0.558713	0.17576	N	0.169297	T	0.09247	0.0228	L	0.29908	0.895	0.25279	N	0.989455	B;B;B;B	0.16396	0.005;0.005;0.017;0.002	B;B;B;B	0.09377	0.0;0.0;0.004;0.0	T	0.24368	-1.0162	10	0.42905	T	0.14	-12.0788	9.1472	0.36939	0.0:0.6847:0.0:0.3153	.	705;751;737;716	B4DIU6;B4E2A6;B0QY62;Q9UH99	.;.;.;SUN2_HUMAN	T	716;716;737;716;705	ENSP00000385740:A716T;ENSP00000216064:A716T;ENSP00000385616:A737T;ENSP00000383992:A716T;ENSP00000395601:A705T	ENSP00000216064:A716T	A	-	1	0	SUN2	37462226	0.000000	0.05858	0.279000	0.24732	0.236000	0.25371	-0.191000	0.09601	-0.017000	0.14103	-0.254000	0.11334	GCC			0.642	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321057.1		XM_039332		T	39132280	C	T	39132280	3	4	15	1	0	0	0	0	1	0	0	0	15415	768	27	1	11	1	SUN2	22	39132280	Missense_Mutation	SNP	C	TCGA-2G-AAFV-01A-11D-A42Y-10	17748769	39132280	12172286	69	988											
ERCC6L	54821	broad.mit.edu	37	chrX	71425589	71425589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaactactacttcttctgGttcatcgtctttctcagaaa	9	18	4	10	1	5	1	2	0	4	1	7	1	5	1	0	1	3	1	0	1	4	8			TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chrX:71425589G>T	ENST00000334463.3	-	2	3163	c.3028C>A	c.(3028-3030)Cca>Aca	p.P1010T	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.P887T	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1010					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACTTCTTCTGGTTCATCGTCT	0.388																																					p.P1010T													.	ERCC6L	98		0			c.C3028A												144	130	135					X																	71425589		2203	4300	6503	SO:0001583	missense	54821	exon2			CTTCTGGTTCATC	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3028C>A	X.37:g.71425589G>T	ENSP00000334675:p.Pro1010Thr		63	0	0		107	0.05	5	NM_017669	50	0	0	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	5.427	0.263927	0.10294	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90385	-2.63;-2.66	5.58	-5.12	0.02893	.	.	.	.	.	T	0.80803	0.4693	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.63690	-0.6580	9	0.16420	T	0.52	1.3182	6.188	0.20508	0.1415:0.5559:0.1235:0.1792	.	1010	Q2NKX8	ERC6L_HUMAN	T	887;1010	ENSP00000362761:P887T;ENSP00000334675:P1010T	ENSP00000334675:P1010T	P	-	1	0	ERCC6L	71342314	0.000000	0.05858	0.000000	0.03702	0.619000	0.37552	-0.380000	0.07427	-1.350000	0.02199	-1.181000	0.01715	CCA			0.388	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057174.2		NM_017669		T	71425589	G	T	71425589	3	4	15	1	0	0	0	0	1	0	0	0	5225	1261	44	3	728	3	ERCC6L	23	71425589	Missense_Mutation	SNP	G	TCGA-2G-AAFV-01A-11D-A42Y-10		71425589	83844971	70	989											
CTAG2	30848	broad.mit.edu	37	chrX	153881676	153881676	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctctgccgcccgtggcAcccgcctctcctgggccgcc	2	6	12	21	4	2	0	0	0	2	0	3	1	2	1	8	3	1	1	8	3	0	0	rs370709312		TCGA-2G-AAFV-01A-11D-A42Y-10	TCGA-2G-AAFV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af03ea8a-e355-49cc-bc41-4ff2e2920c39	db466af1-f94e-426c-96ca-b7273aa85239	g.chrX:153881676A>C	ENST00000247306.4	-	1	177	c.114T>G	c.(112-114)ggT>ggG	p.G38G	CTAG2_ENST00000369585.3_Silent_p.G38G	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	38	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					CGCCCGTGGCACCCGCCTCTC	0.761																																					p.G38G													.	CTAG2	88		0			c.T114G												2	3	3					X																	153881676		1206	2709	3915	SO:0001819	synonymous_variant	30848	exon1			CGTGGCACCCGCC	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.114T>G	X.37:g.153881676A>C			40	0.475	19		92	0.38	35	NM_020994	0		0	O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	CCDS14759.1																																																																																					0.761	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000061176.1		NM_020994		C	153881676	A	C	153881676	2	2	15	1	0	0	0	0	0	0	0	1	3993	146	6	4		4	CTAG2	23	153881676	Silent	SNP	A	TCGA-2G-AAFV-01A-11D-A42Y-10	82456087	153881676	1388884	71	990											
SLC1A7	6512	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	53580475	53580475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagctcatgatgggcttcCcactctgctccgtggtctcc	4	12	10	15	1	3	2	1	2	2	0	6	2	5	2	3	2	2	3	3	2	0	1			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr1:53580475C>T	ENST00000371494.4	-	3	513	c.386G>A	c.(385-387)gGg>gAg	p.G129E	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Missense_Mutation_p.G129E	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	129					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GATGGGCTTCCCACTCTGCTC	0.622																																					p.G129E	NSCLC(128;80 1811 21245 38490 51715)												.	.			0			c.G386A												133	107	116					1																	53580475		2203	4300	6503	SO:0001583	missense	6512	exon3			GGCTTCCCACTCT	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.386G>A	1.37:g.53580475C>T	ENSP00000360549:p.Gly129Glu		89	0	0		140	0.06	8	NM_006671	2	0	0	Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.083034	0.55861	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.57273	0.41;0.41	5.69	4.78	0.61160	.	0.264242	0.43747	D	0.000530	T	0.38214	0.1032	N	0.13235	0.315	0.53005	D	0.99996	B;B	0.18968	0.032;0.003	B;B	0.28139	0.086;0.01	T	0.14615	-1.0466	10	0.23891	T	0.37	-24.1877	14.723	0.69323	0.0:0.9306:0.0:0.0694	.	129;129	Q9BW45;O00341	.;EAA5_HUMAN	E	129	ENSP00000360549:G129E;ENSP00000360546:G129E	ENSP00000360546:G129E	G	-	2	0	SLC1A7	53353063	0.998000	0.40836	0.916000	0.36221	0.964000	0.63967	4.665000	0.61547	1.429000	0.47314	0.655000	0.94253	GGG			0.622	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000024746.1		NM_006671		T	53580475	C	T	53580475	3	4	16	1	0	0	0	0	1	0	0	0	14460	623	22	3	1332	3	SLC1A7	1	53580475	Missense_Mutation	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10		53580475	195670146	1	991											
PRELP	5549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	203453089	203453089	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagattgagaccatccctaaCggatacttcaagagctttcc	13	10	7	11	1	1	3	1	1	0	3	3	5	3	4	3	1	3	1	3	1	4	5	rs370979066		TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr1:203453089C>T	ENST00000343110.2	+	2	904	c.777C>T	c.(775-777)aaC>aaT	p.N259N		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	259					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.N259N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCATCCCTAACGGATACTTCA	0.507																																					p.N259N													PRELP,caecum,carcinoma,0,1	PRELP	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C777T							C	,	2,4404	4.2+/-10.8	0,2,2201	121	122	122		777,777	-9.5	0	1		122	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRELP	NM_002725.3,NM_201348.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	259/383,259/383	203453089	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5549	exon2			CCCTAACGGATAC	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.777C>T	1.37:g.203453089C>T			129	0	0		207	0.13	26	NM_201348	29	0.03	1	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1																																																																																					0.507	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087474.1		NM_002725		T	203453089	C	T	203453089	2	4	16	1	0	0	0	0	0	0	0	1	12493	535	19	1		1	PRELP	1	203453089	Silent	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10	149872614	203453089	45797532	2	992											
KALRN	8997	mdanderson.org	37	chr3	124114183	124114183	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctcggggagcccagcGaggccaggtcagcatgggca	7	4	15	15	2	1	0	1	0	0	0	3	2	2	1	4	5	3	2	4	5	0	0			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr3:124114183G>T	ENST00000240874.3	+	12	2315	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.E720*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.E720*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	720					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGCCCAGCGAGGCCAGGTC	0.572																																					p.E720X													.	.			0			c.G2158T												35	29	31					3																	124114183		2203	4300	6503	SO:0001587	stop_gained	8997	exon12			CCCAGCGAGGCCA	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2158G>T	3.37:g.124114183G>T	ENSP00000240874:p.Glu720*		47	0	0		49	0.06	3	NM_003947	4	0	0	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	39	7.651412	0.98412	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.	.	.	4.96	4.96	0.65561	.	0.480009	0.20334	N	0.094377	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	11.0637	0.47964	0.0:0.0:0.8152:0.1848	.	.	.	.	X	720;720;720;196	.	ENSP00000240874:E720X	E	+	1	0	KALRN	125596873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.675000	0.54605	2.756000	0.94617	0.655000	0.94253	GAG			0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000258843.4		NM_003947		T	124114183	G	T	124114183	4	4	16	1	0	0	0	0	0	1	0	0	7990	1059	37	1	2204	1	KALRN	3	124114183	Nonsense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		124114183	73908247	3	993											
FRAS1	80144	mdanderson.org	37	chr4	79460492	79460492	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagtacttccatgatgtGccttttgaggctcactttgc	8	15	9	9	0	1	2	1	2	0	0	2	3	2	2	2	1	3	2	2	1	2	6			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr4:79460492G>T	ENST00000264895.6	+	73	11783	c.11343G>T	c.(11341-11343)gtG>gtT	p.V3781V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3777					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						TCCATGATGTGCCTTTTGAGG	0.413																																					p.V3781V													.	.			0			c.G11343T												155	152	153					4																	79460492		1922	4146	6068	SO:0001819	synonymous_variant	80144	exon73			TGATGTGCCTTTT	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	ENST00000264895.6:c.11343G>T	4.37:g.79460492G>T			43	0	0		86	0.07	6	NM_025074	1	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	9.455	1.091624	0.20471	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.87	3.23	0.37069	.	.	.	.	.	T	0.54631	0.1870	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45293	-0.9271	4	.	.	.	.	6.1104	0.20097	0.2706:0.1242:0.6052:0.0	.	.	.	.	S	2010	.	.	A	+	1	0	FRAS1	79679516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.699000	0.37804	0.393000	0.25203	0.655000	0.94253	GCC			0.413	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding						T	79460492	G	T	79460492	2	4	16	1	0	0	0	0	0	0	0	1	6055	1306	46	2		2	FRAS1	4	79460492	Silent	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		79460492	111693784	4	994											
NHEDC1	150159	ucsc.edu	37	chr4	103822298	103822298	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgttctaatgttgacaaCtgcagttttattttgcttgg	8	19	9	5	0	1	2	0	2	1	0	1	2	1	2	0	1	3	5	0	1	3	8	rs3175325	byFrequency	TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr4:103822298C>T	ENST00000296422.7	-	12	1665	c.1524G>A	c.(1522-1524)caG>caA	p.Q508Q	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	508					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ATGTTGACAACTGCAGTTTTA	0.358																																					p.Q508Q													.	.			0			c.G1524A												66	70	68					4																	103822298		1818	3378	5196	SO:0001819	synonymous_variant	150159	exon12			TGACAACTGCAGT	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1524G>A	4.37:g.103822298C>T			24	0.25	6		49	0.35	17	NM_139173	1	0	0	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	CCDS34041.1																																																																																					0.358	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363841.1		NM_139173		T	103822298	C	T	103822298	2	4	16	1	0	0	0	0	0	0	0	1	10417	564	20	3		3	NHEDC1	4	103822298	Silent	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10	24361806	103822298	87331978	5	995											
VCAN	1462	broad.mit.edu	37	chr5	82836890	82836890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagacgttttacttcccacgGcaacatccctgccaattcct	9	12	5	15	2	0	1	0	0	0	1	3	1	3	1	4	1	3	2	4	1	4	5			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr5:82836890G>T	ENST00000265077.3	+	8	8633	c.8068G>T	c.(8068-8070)Gca>Tca	p.A2690S	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A1703S|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2690	GAG-beta.				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)	ACTTCCCACGGCAACATCCCT	0.438																																					p.A2690S													.	VCAN	498		0			c.G8068T												105	97	100					5																	82836890		2203	4299	6502	SO:0001583	missense	1462	exon8			CCCACGGCAACAT	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.8068G>T	5.37:g.82836890G>T	ENSP00000265077:p.Ala2690Ser		64	0	0		115	0.03	4	NM_004385	130	0	0	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	7.426	0.637731	0.14386	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.35421	1.31;1.31	6.17	3.43	0.39272	.	0.817624	0.11043	N	0.605828	T	0.30135	0.0755	L	0.54323	1.7	0.20403	N	0.999906	B;B	0.30361	0.277;0.181	B;B	0.30495	0.116;0.054	T	0.28713	-1.0035	10	0.05620	T	0.96	.	10.2798	0.43532	0.0676:0.2551:0.6774:0.0	.	1703;2690	P13611-2;P13611	.;CSPG2_HUMAN	S	2690;1703	ENSP00000265077:A2690S;ENSP00000340062:A1703S	ENSP00000265077:A2690S	A	+	1	0	VCAN	82872646	0.185000	0.23213	0.096000	0.21009	0.067000	0.16453	1.042000	0.30303	0.474000	0.27392	-0.929000	0.02709	GCA			0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000254092.3		NM_004385		T	82836890	G	T	82836890	3	4	16	1	0	0	0	0	1	0	0	0	17162	1203	42	2	8094	2	VCAN	5	82836890	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		82836890	98078370	6	996											
TNIP1	10318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	150436337	150436337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcgcctcacctgcagaatgGaggtgcgctgctcattcttg	6	10	12	13	3	3	1	2	0	1	1	3	2	3	2	2	2	3	3	2	2	1	2			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr5:150436337G>T	ENST00000389378.2	-	6	1205	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	TNIP1_ENST00000521591.1_Missense_Mutation_p.S206Y|TNIP1_ENST00000315050.7_Missense_Mutation_p.S206Y|TNIP1_ENST00000523200.1_Missense_Mutation_p.S206Y|TNIP1_ENST00000524280.1_Missense_Mutation_p.S206Y|TNIP1_ENST00000523338.1_Missense_Mutation_p.S206Y|TNIP1_ENST00000518977.1_Missense_Mutation_p.S206Y|TNIP1_ENST00000522226.1_Missense_Mutation_p.S206Y|TNIP1_ENST00000520931.1_Missense_Mutation_p.S153Y	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	206	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCAGAATGGAGGTGCGCTG	0.652																																					p.S206Y													.	.			0			c.C617A												42	38	39					5																	150436337		2203	4300	6503	SO:0001583	missense	10318	exon6			AGAATGGAGGTGC	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.617C>A	5.37:g.150436337G>T	ENSP00000374029:p.Ser206Tyr		98	0	0		77	0.16	12	NM_001252385	98	0.06	6	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616602	0.87359	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.25912	2.36;2.39;2.39;2.39;2.39;2.39;2.39;2.42;2.42;1.77	5.09	5.09	0.68999	.	0.110564	0.64402	D	0.000005	T	0.53883	0.1824	M	0.76002	2.32	0.53688	D	0.999977	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	0.87578	0.998;0.991;0.998;0.991;0.991;0.996;0.996	T	0.58329	-0.7655	10	0.87932	D	0	-19.5108	18.8607	0.92270	0.0:0.0:1.0:0.0	.	206;160;160;206;206;206;206	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	Y	153;206;206;206;163;163;168;206;206;206;206;206;163;153	ENSP00000429891:S153Y;ENSP00000374029:S206Y;ENSP00000317891:S206Y;ENSP00000428243:S206Y;ENSP00000428187:S206Y;ENSP00000430760:S206Y;ENSP00000430971:S206Y;ENSP00000429912:S206Y;ENSP00000431105:S206Y;ENSP00000428487:S153Y	ENSP00000317891:S206Y	S	-	2	0	TNIP1	150416530	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.540000	0.90641	2.525000	0.85131	0.655000	0.94253	TCC			0.652	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374914.1		NM_006058		T	150436337	G	T	150436337	3	4	16	1	0	0	0	0	1	0	0	0	16337	1174	41	3	1345	3	TNIP1	5	150436337	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	67599447	150436337	30478923	7	997											
PECI	10455	mdanderson.org	37	chr6	4125592	4125592	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaaaatctataaaacaGcccacaaattccctacagaa	19	8	4	10	0	1	1	0	0	1	1	2	2	2	2	2	1	3	0	2	1	9	5			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr6:4125592G>T	ENST00000380118.3	-	7	723	c.687C>A	c.(685-687)ggC>ggA	p.G229G	C6orf201_ENST00000430835.2_3'UTR|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000465828.1_Silent_p.G199G|ECI2_ENST00000361538.2_Silent_p.G199G|ECI2_ENST00000380125.2_Silent_p.G199G|ECI2_ENST00000413766.2_Silent_p.G62G			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	229	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTATAAAACAGCCCACAAATT	0.458																																					p.G229G													.	.			0			c.C687A												97	94	95					6																	4125592		2203	4300	6503	SO:0001819	synonymous_variant	10455	exon7			AAAACAGCCCACA	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.687C>A	6.37:g.4125592G>T			66	0	0		51	0.06	3	NM_206836	46	0	0	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Silent	SNP	ENST00000380118.3	37	CCDS43420.2																																																																																					0.458	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039716.4		NM_006117		T	4125592	G	T	4125592	2	4	16	1	0	0	0	0	0	0	0	1	11733	958	34	2		2	PECI	6	4125592	Silent	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		4125592	166989475	8	998											
GPR141	353345	broad.mit.edu	37	chr7	37780115	37780115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgtcatttccattcttttCctcctggtgaaaatgaacac	9	15	7	10	0	2	2	1	2	1	0	5	2	5	2	3	2	1	0	3	2	3	4			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr7:37780115C>T	ENST00000447769.1	+	4	409	c.120C>T	c.(118-120)ttC>ttT	p.F40F	GPR141_ENST00000334425.1_Silent_p.F40F|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	40						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						CCATTCTTTTCCTCCTGGTGA	0.498																																					p.F40F													.	GPR141	79		0			c.C120T												107	110	109					7																	37780115		2203	4300	6503	SO:0001819	synonymous_variant	353345	exon1			TCTTTTCCTCCTG	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.120C>T	7.37:g.37780115C>T			100	0.06	6		170	0.09	16	NM_181791	0		0	A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	ENST00000447769.1	37	CCDS5451.1																																																																																					0.498	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219943.2		NM_181791		T	37780115	C	T	37780115	2	4	16	1	0	0	0	0	0	0	0	1	6663	854	30	3		3	GPR141	7	37780115	Silent	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10		37780115	121358548	9	999											
SCRIB	23513	mdanderson.org	37	chr8	144886857	144886857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaacagcagcggtgggggGtgaggaatgtggcagagggc	9	4	22	6	1	0	2	0	1	0	1	0	3	0	3	0	8	3	3	0	8	2	0			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr8:144886857G>T	ENST00000320476.3	-	21	2896	c.2890C>A	c.(2890-2892)Ccc>Acc	p.P964T	SCRIB_ENST00000377533.3_Missense_Mutation_p.P883T|SCRIB_ENST00000356994.2_Missense_Mutation_p.P964T	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	964	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCGGTGGGGGGTGAGGAATGT	0.711																																					p.P964T	Pancreas(51;966 1133 10533 14576 29674)												.	.			0			c.C2890A												17	18	18					8																	144886857		2198	4298	6496	SO:0001583	missense	23513	exon21			TGGGGGGTGAGGA	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2890C>A	8.37:g.144886857G>T	ENSP00000322938:p.Pro964Thr		27	0	0		36	0.08	3	NM_182706	151	0	0	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	8.452	0.853258	0.17106	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.39787	1.28;1.25;1.06	3.91	-0.359	0.12571	.	.	.	.	.	T	0.34454	0.0898	L	0.56769	1.78	0.30773	N	0.742878	B;P	0.36959	0.44;0.575	B;B	0.38755	0.05;0.281	T	0.38779	-0.9645	9	0.54805	T	0.06	.	2.3571	0.04298	0.1674:0.1212:0.491:0.2203	.	964;964	Q14160;Q14160-3	SCRIB_HUMAN;.	T	964;964;883;333	ENSP00000349486:P964T;ENSP00000322938:P964T;ENSP00000366756:P883T	ENSP00000322938:P964T	P	-	1	0	SCRIB	144958845	0.996000	0.38824	0.000000	0.03702	0.003000	0.03518	3.335000	0.52105	-0.333000	0.08476	-0.404000	0.06349	CCC			0.711	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000382215.1		NM_015356		T	144886857	G	T	144886857	3	4	16	1	0	0	0	0	1	0	0	0	13960	1261	44	3	2145	3	SCRIB	8	144886857	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		144886857	1477165	10	1000											
RAPGEF1	2889	mdanderson.org	37	chr9	134503341	134503341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagcactgcccactgTccctgtccagagaggacagc	8	6	12	15	1	0	1	0	0	0	1	3	4	3	3	4	2	3	1	4	2	0	0			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr9:134503341T>C	ENST00000372189.3	-	9	1232	c.1109A>G	c.(1108-1110)gAc>gGc	p.D370G	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.D387G|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.D388G	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	370					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)		CTGCCCACTGTCCCTGTCCAG	0.607																																					p.D388G													.	.			0			c.A1163G												48	54	52					9																	134503341		2154	4271	6425	SO:0001583	missense	2889	exon9			CCACTGTCCCTGT	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.1109A>G	9.37:g.134503341T>C	ENSP00000361263:p.Asp370Gly		52	0	0		50	0.06	3	NM_198679	85	0	0	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774167	0.90108	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.45276	0.9;0.9;0.9	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.64997	1.995	0.54753	D	0.999983	D;D;D	0.62365	0.985;0.985;0.991	P;P;D	0.63877	0.831;0.831;0.919	T	0.57069	-0.7874	10	0.36615	T	0.2	.	14.1451	0.65347	0.0:0.0:0.0:1.0	.	387;370;388	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	G	370;387;264;370;388;350;296;65;387	ENSP00000361269:D387G;ENSP00000361263:D370G;ENSP00000361264:D388G	ENSP00000266110:D370G	D	-	2	0	RAPGEF1	133493162	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	1.936000	0.56123	0.482000	0.46254	GAC			0.607	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054759.2		NM_005312		C	134503341	T	C	134503341	3	2	16	1	0	0	0	0	1	0	0	0	13066	1667	58	4	2188	4	RAPGEF1	9	134503341	Missense_Mutation	SNP	T	TCGA-2G-AAFY-01A-11D-A42Y-10		134503341	6710090	11	1001											
ADARB2	105	mdanderson.org	37	chr10	1245984	1245984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggctcatgacgcgtgCgaggtggcccgtgtggtgca	4	8	19	10	5	1	1	1	1	0	0	1	2	1	1	1	5	2	2	1	5	0	0			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr10:1245984C>G	ENST00000381312.1	-	8	2111	c.1786G>C	c.(1786-1788)Gca>Cca	p.A596P	ADARB2_ENST00000381310.3_Missense_Mutation_p.A105P|ADARB2_ENST00000381305.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	596	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)		ATGACGCGTGCGAGGTGGCCC	0.697																																					p.A596P													.	.			0			c.G1786C												40	36	37					10																	1245984		2196	4295	6491	SO:0001583	missense	105	exon8			CGCGTGCGAGGTG	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.1786G>C	10.37:g.1245984C>G	ENSP00000370713:p.Ala596Pro		24	0	0		27	0.11	3	NM_018702	0		0	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957205	0.53293	.	.	ENSG00000185736	ENST00000381312;ENST00000381310	D;D	0.93906	-3.31;-3.31	5.77	0.503	0.16940	Adenosine deaminase/editase (3);	0.329390	0.32314	N	0.006273	D	0.92260	0.7545	L	0.29908	0.895	0.80722	D	1	B;D	0.56521	0.041;0.976	B;P	0.57324	0.048;0.818	D	0.89903	0.4046	10	0.46703	T	0.11	-24.6355	15.32	0.74115	0.4558:0.5442:0.0:0.0	.	596;105	Q9NS39;Q5VW42	RED2_HUMAN;.	P	596;105	ENSP00000370713:A596P;ENSP00000370711:A105P	ENSP00000370711:A105P	A	-	1	0	ADARB2	1235984	0.774000	0.28592	0.787000	0.31911	0.528000	0.34623	1.450000	0.35134	-0.153000	0.11137	-0.274000	0.10170	GCA			0.697	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046426.1		NM_018702		G	1245984	C	G	1245984	3	3	16	1	0	0	0	0	1	0	0	0	283	768	27	5	445	5	ADARB2	10	1245984	Missense_Mutation	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10		1245984	134288763	12	1002											
TAF3	83860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr10	8006560	8006560	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatccaggtaaaacaaataCagacaccccctgatgctggg	14	7	8	12	0	0	2	0	1	0	1	1	2	1	2	3	2	3	2	3	2	5	3	rs568125079		TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr10:8006560C>T	ENST00000344293.5	+	3	1293	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	363					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAAACAAATACAGACACCCCC	0.463																																					p.Q363X													.	.			0			c.C1087T												51	48	49					10																	8006560		1873	4115	5988	SO:0001587	stop_gained	83860	exon3			CAAATACAGACAC	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1087C>T	10.37:g.8006560C>T	ENSP00000340271:p.Gln363*		90	0	0		109	0.14	15	NM_031923	12	0.17	2	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054852	0.55325	.	.	ENSG00000165632	ENST00000344293	.	.	.	5.4	5.4	0.78164	.	0.202723	0.34156	N	0.004205	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-13.6143	19.1676	0.93563	0.0:1.0:0.0:0.0	.	.	.	.	X	363	.	ENSP00000340271:Q363X	Q	+	1	0	TAF3	8046566	0.204000	0.23447	0.020000	0.16555	0.005000	0.04900	5.359000	0.66074	2.546000	0.85860	0.650000	0.86243	CAG			0.463	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046725.1		NM_031923		T	8006560	C	T	8006560	4	4	16	1	0	0	0	0	0	1	0	0	15548	479	17	3	1097	3	TAF3	10	8006560	Nonsense_Mutation	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10	6760576	8006560	127528187	13	1003											
LRRTM3	347731	broad.mit.edu;mdanderson.org	37	chr10	68687000	68687000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcttttaatggaatacGcagactcaaagagctgattc	15	11	8	7	1	1	3	1	1	0	2	2	4	1	4	0	1	3	3	0	1	5	4	rs143239282		TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr10:68687000G>A	ENST00000361320.4	+	2	904	c.326G>A	c.(325-327)cGc>cAc	p.R109H	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	109					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						AATGGAATACGCAGACTCAAA	0.368																																					p.R109H													.	LRRTM3	241		0			c.G326A							G	,,HIS/ARG	0,4406		0,0,2203	98	102	101		,,326	5.4	1	10	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	CTNNA3,LRRTM3	NM_001127384.1,NM_013266.2,NM_178011.3	,,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,probably-damaging	,,109/582	68687000	1,13005	2203	4300	6503	SO:0001583	missense	347731	exon2			GAATACGCAGACT	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.326G>A	10.37:g.68687000G>A	ENSP00000355187:p.Arg109His		39	0	0		52	0.08	4	NM_178011	0		0	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494906	0.64186	0.0	1.16E-4	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.59638	0.25	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000004	T	0.61060	0.2317	N	0.11000	0.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68243	-0.5460	10	0.54805	T	0.06	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	109;109	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	109	ENSP00000355187:R109H	ENSP00000355187:R109H	R	+	2	0	LRRTM3	68357006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.543000	0.85770	0.655000	0.94253	CGC			0.368	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048277.2		NM_178011		A	68687000	G	A	68687000	3	1	16	1	0	0	0	0	1	0	0	0	9057	1087	38	1	332	1	LRRTM3	10	68687000	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	60680440	68687000	66847747	14	1004											
IRF7	3665	mdanderson.org	37	chr11	615253	615253	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctccgaacagcacgcgtggGgctgccctgcgggtgcccgg	4	6	16	15	5	1	0	0	0	1	0	2	1	1	0	3	4	5	2	3	4	1	0			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr11:615253G>T	ENST00000397574.2	-	3	396	c.27C>A	c.(25-27)gcC>gcA	p.A9A	IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Silent_p.A9A|IRF7_ENST00000330243.5_Silent_p.A22A|IRF7_ENST00000348655.6_Silent_p.A9A|IRF7_ENST00000397566.1_Silent_p.A22A|IRF7_ENST00000525445.1_5'UTR	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	9					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		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;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCACGCGTGGGGCTGCCCTGC	0.701																																					p.A22A													.	.			0			c.C66A												6	7	7					11																	615253		2123	4182	6305	SO:0001819	synonymous_variant	3665	exon1			GCGTGGGGCTGCC	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.27C>A	11.37:g.615253G>T			23	0	0		19	0.11	2	NM_004031	125	0	0	B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	CCDS7703.1																																																																																					0.701	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255026.1		NM_001572		T	615253	G	T	615253	2	4	16	1	0	0	0	0	0	0	0	1	7850	1219	43	3		3	IRF7	11	615253	Silent	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		615253	134391263	15	1005											
CCDC87	55231	mdanderson.org	37	chr11	66360040	66360040	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccaaccgggtgagggtGgctgattcagtgaagacccc	8	6	16	11	2	1	4	1	3	0	1	1	4	1	4	4	4	1	1	4	4	2	1			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr11:66360040G>T	ENST00000333861.3	-	1	514	c.447C>A	c.(445-447)gcC>gcA	p.A149A	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	149					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGTGAGGGTGGCTGATTCAG	0.632																																					p.A149A													.	.			0			c.C447A												50	50	50					11																	66360040		2200	4295	6495	SO:0001819	synonymous_variant	55231	exon1			GAGGGTGGCTGAT	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.447C>A	11.37:g.66360040G>T			46	0	0		41	0.07	3	NM_018219	1	0	0	Q8NE76	Silent	SNP	ENST00000333861.3	37	CCDS8145.1																																																																																					0.632	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393825.1		NM_018219		T	66360040	G	T	66360040	2	4	16	1	0	0	0	0	0	0	0	1	2864	1335	47	3		3	CCDC87	11	66360040	Silent	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	65744787	66360040	68646476	16	1006											
LRP5	4041	mdanderson.org	37	chr11	68216521	68216521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgccccctccgtcccccTgcacggactcatcctgacct	4	8	6	23	3	1	1	1	1	0	0	5	2	5	2	8	1	1	1	8	1	0	0			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr11:68216521T>C	ENST00000294304.7	+	23	4937	c.4831T>C	c.(4831-4833)Tgc>Cgc	p.C1611R	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1611					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						TCCGTCCCCCTGCACGGACTC	0.562																																					p.C1611R													.	.			0			c.T4831C												32	36	34					11																	68216521		2200	4293	6493	SO:0001583	missense	4041	exon23			TCCCCCTGCACGG	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.4831T>C	11.37:g.68216521T>C	ENSP00000294304:p.Cys1611Arg		27	0	0		22	0.14	3	NM_002335	63	0	0	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521898	0.44866	.	.	ENSG00000162337	ENST00000294304	D	0.93426	-3.22	4.53	4.53	0.55603	.	0.000000	0.50627	U	0.000102	D	0.95245	0.8458	L	0.57536	1.79	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.66497	0.944;0.944	D	0.95710	0.8757	10	0.87932	D	0	.	14.0922	0.64998	0.0:0.0:0.0:1.0	.	1611;1611	Q9UES7;O75197	.;LRP5_HUMAN	R	1611	ENSP00000294304:C1611R	ENSP00000294304:C1611R	C	+	1	0	LRP5	67973097	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	7.395000	0.79876	1.919000	0.55581	0.454000	0.30748	TGC			0.562	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395088.1		NM_002335		C	68216521	T	C	68216521	3	2	16	1	0	0	0	0	1	0	0	0	8976	1580	55	4	4921	4	LRP5	11	68216521	Missense_Mutation	SNP	T	TCGA-2G-AAFY-01A-11D-A42Y-10	1856481	68216521	66789995	17	1007											
STT3A	3703	mdanderson.org	37	chr11	125482643	125482643	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccctattaagaatgaaGtgagaagcaatgttaagagt	16	10	9	6	0	0	4	0	2	0	3	0	5	0	4	2	0	2	2	2	0	8	4			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr11:125482643G>T	ENST00000529196.1	+	13	1571		c.e13+1		STT3A_ENST00000392708.4_Splice_Site|STT3A_ENST00000531491.1_Splice_Site			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)						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)		TAAGAATGAAGTGAGAAGCAA	0.473																																					.													.	.			0			c.1365+1G>T												91	83	86					11																	125482643		2201	4299	6500	SO:0001630	splice_region_variant	3703	exon12			AATGAAGTGAGAA	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.1365+1G>T	11.37:g.125482643G>T			39	0.0256410256	1		43	0.07	3	NM_152713	9	0	0	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Splice_Site	SNP	ENST00000529196.1	37	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733278	0.89482	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491;ENST00000526726	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8291	0.96628	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STT3A	124987853	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.661000	0.98601	2.780000	0.95670	0.655000	0.94253	.			0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000386691.1		NM_152713	Intron	T	125482643	G	T	125482643	5	4	16	1	0	0	0	0	0	0	1	0	15356	1043	36	3	1408	3	STT3A	11	125482643	Splice_Site	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	57266122	125482643	9523873	18	1008											
WBP11	51729	broad.mit.edu	37	chr12	14947586	14947586	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtggaccagggggAgggccaggaggttttctgcc	7	6	21	7	0	1	0	0	0	1	0	1	5	1	5	3	9	1	1	3	9	0	2			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr12:14947586A>G	ENST00000261167.2	-	7	839	c.606T>C	c.(604-606)ccT>ccC	p.P202P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	202	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GACCAGGGGGAGGGCCAGGAG	0.512																																					p.P202P													WBP11,right_lower_lobe,carcinoma,0,2	WBP11	66	2	0			c.T606C												100	107	105					12																	14947586		2203	4300	6503	SO:0001819	synonymous_variant	51729	exon7			AGGGGGAGGGCCA	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.606T>C	12.37:g.14947586A>G			149	0.0201342282	3		419	0.02	8	NM_016312	460	0.01	3	Q96AY8	Silent	SNP	ENST00000261167.2	37	CCDS8666.1																																																																																					0.512	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400850.1		NM_016312		G	14947586	A	G	14947586	2	3	16	1	0	0	0	0	0	0	0	1	17282	291	11	4		4	WBP11	12	14947586	Silent	SNP	A	TCGA-2G-AAFY-01A-11D-A42Y-10		14947586	118904309	19	1009											
DDX11	1663	ucsc.edu	37	chr12	31254052	31254052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgttccagaaaagagaGctgcctcagatggtcagtcc	11	9	10	11	1	3	3	3	0	0	3	5	4	5	3	3	1	2	2	3	1	2	2	rs201027785	byFrequency	TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr12:31254052G>C	ENST00000407793.2	+	20	2291	c.2040G>C	c.(2038-2040)gaG>gaC	p.E680D	DDX11_ENST00000350437.4_Missense_Mutation_p.E680D|DDX11_ENST00000542838.1_Missense_Mutation_p.E680D|DDX11_ENST00000228264.6_Missense_Mutation_p.E654D|DDX11_ENST00000545668.1_Missense_Mutation_p.E680D|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	680					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGAAAAGAGAGCTGCCTCAGA	0.612										Multiple Myeloma(12;0.14)			G|||	11	0.00219649	0.0015	0.0101	5008	,	,		17144	0		0.001	False		,,,				2504	0.001				p.E680D													.	DDX11	188		0			c.G2040C												56	62	60					12																	31254052		2203	4300	6503	SO:0001583	missense	1663	exon20			AAGAGAGCTGCCT	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2040G>C	12.37:g.31254052G>C	ENSP00000384703:p.Glu680Asp		109	0	0		171	0.01	2	NM_030653	209	0.12	26	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	149	0.06822344322344322	30	0.06097560975609756	20	0.055248618784530384	39	0.06818181818181818	60	0.079155672823219	G	3.714	-0.058844	0.07317	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.78003	-0.56;-0.55;-0.56;-0.55;-1.14	3.75	0.575	0.17374	.	0.161338	0.53938	D	0.000051	T	0.05044	0.0135	.	.	.	0.80722	D	1	B;B;B;B	0.15141	0.012;0.006;0.002;0.012	B;B;B;B	0.13407	0.009;0.003;0.004;0.009	T	0.02437	-1.1159	9	0.13470	T	0.59	.	2.3945	0.04386	0.112:0.3585:0.3457:0.1839	.	654;680;680;680	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	D	680;680;405;654;680;680	ENSP00000443426:E680D;ENSP00000384703:E680D;ENSP00000228264:E654D;ENSP00000440402:E680D;ENSP00000309965:E680D	ENSP00000228264:E654D	E	+	3	2	DDX11	31145319	0.402000	0.25311	0.969000	0.41365	0.258000	0.26162	0.027000	0.13621	0.748000	0.32831	0.597000	0.82753	GAG			0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1	rescued with RNA-seq	NM_030653		C	31254052	G	C	31254052	3	2	16	1	0	0	0	0	1	0	0	0	4345	962	34	5	2114	5	DDX11	12	31254052	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	16306466	31254052	102597843	20	1010											
ITGA5	3678	broad.mit.edu	37	chr12	54791248	54791248	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatagctgccttctgccttGgtccattgcacagctgtggc	5	12	10	14	0	1	0	0	0	1	0	2	0	2	0	4	2	5	3	4	2	1	4			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr12:54791248G>T	ENST00000293379.4	-	29	3228	c.2967C>A	c.(2965-2967)acC>acA	p.T989T	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	989					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTTCTGCCTTGGTCCATTGCA	0.522																																					p.T989T													.	ITGA5	99		0			c.C2967A												177	127	144					12																	54791248		2203	4300	6503	SO:0001819	synonymous_variant	3678	exon29			TGCCTTGGTCCAT		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2967C>A	12.37:g.54791248G>T			56	0.0178571429	1		125	0.03	4	NM_002205	203	0	0	Q96HA5	Silent	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	1.052	-0.675688	0.03378	.	.	ENSG00000161638	ENST00000547197	.	.	.	5.44	1.58	0.23477	.	.	.	.	.	T	0.43100	0.1232	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21245	-1.0251	4	.	.	.	.	1.9905	0.03445	0.1519:0.1351:0.4344:0.2786	.	.	.	.	Q	59	.	.	P	-	2	0	ITGA5	53077515	0.999000	0.42202	0.991000	0.47740	0.107000	0.19398	0.366000	0.20365	0.103000	0.17682	-0.816000	0.03127	CCA			0.522	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406174.1				T	54791248	G	T	54791248	2	4	16	1	0	0	0	0	0	0	0	1	7894	1335	47	3		3	ITGA5	12	54791248	Silent	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	23537196	54791248	79060647	21	1011											
RFC3	5983	broad.mit.edu	37	chr13	34398073	34398073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactccatctaaaaaaaaaaTtgaaattagcaccattgcaa	20	9	4	8	0	1	1	0	1	1	0	2	2	2	1	2	0	2	2	2	0	8	4			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr13:34398073T>A	ENST00000380071.3	+	3	375	c.245T>A	c.(244-246)aTt>aAt	p.I82N	RFC3_ENST00000434425.1_Missense_Mutation_p.I82N	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	82					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|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)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AAAAAAAAAATTGAAATTAGC	0.284																																					p.I82N													.	RFC3	40		0			c.T245A												28	31	30					13																	34398073		2196	4285	6481	SO:0001583	missense	5983	exon3			AAAAAATTGAAAT		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.245T>A	13.37:g.34398073T>A	ENSP00000369411:p.Ile82Asn		256	0.0078125	2		479	0.02	11	NM_002915	36	0	0	C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462673	0.84425	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.42513	0.97;0.97	5.74	5.74	0.90152	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.046773	0.85682	D	0.000000	T	0.67268	0.2875	M	0.85197	2.74	0.80722	D	1	D;D;D	0.60160	0.987;0.977;0.977	P;D;D	0.65573	0.879;0.936;0.936	T	0.73388	-0.3998	10	0.87932	D	0	-24.8682	15.2146	0.73254	0.0:0.0:0.0:1.0	.	82;82;82	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	N	82	ENSP00000369411:I82N;ENSP00000401001:I82N	ENSP00000369411:I82N	I	+	2	0	RFC3	33296073	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.498000	0.81546	2.195000	0.70347	0.533000	0.62120	ATT			0.284	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044450.2		NM_002915		A	34398073	T	A	34398073	3	1	16	1	0	0	0	0	1	0	0	0	13269	1493	52	5	255	5	RFC3	13	34398073	Missense_Mutation	SNP	T	TCGA-2G-AAFY-01A-11D-A42Y-10		34398073	80771805	22	1012											
PCCA	5095	mdanderson.org	37	chr13	100915059	100915059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactaatagaaaaatttattGataatcctcgtcatatagaa	18	14	4	5	1	1	3	1	1	0	2	3	3	2	3	1	0	1	0	1	0	10	9			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr13:100915059G>T	ENST00000376285.1	+	10	831	c.793G>T	c.(793-795)Gat>Tat	p.D265Y	PCCA_ENST00000376286.4_Missense_Mutation_p.D239Y|PCCA_ENST00000376279.3_Missense_Mutation_p.D265Y	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	265	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|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)	AAAATTTATTGATAATCCTCG	0.294																																					p.D265Y													.	.			0			c.G793T												105	123	117					13																	100915059		2200	4299	6499	SO:0001583	missense	5095	exon10			TTTATTGATAATC	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.793G>T	13.37:g.100915059G>T	ENSP00000365462:p.Asp265Tyr		36	0	0		46	0.07	3	NM_001178004	10	0	0	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	19.43	3.827015	0.71143	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.98060	-4.69;-4.69;-4.69	5.23	4.39	0.52855	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.76938	2.355	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.98;0.978;0.987	D	0.99007	1.0813	10	0.66056	D	0.02	.	13.7094	0.62659	0.0748:0.0:0.9252:0.0	.	265;239;265	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	Y	239;265;265	ENSP00000365463:D239Y;ENSP00000365456:D265Y;ENSP00000365462:D265Y	ENSP00000365456:D265Y	D	+	1	0	PCCA	99713060	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.252000	0.78309	1.187000	0.43000	0.655000	0.94253	GAT			0.294	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045627.2				T	100915059	G	T	100915059	3	4	16	1	0	0	0	0	1	0	0	0	11521	1290	45	3	831	3	PCCA	13	100915059	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	66516986	100915059	14254819	23	1013											
OR10G3	26533	mdanderson.org	37	chr14	22038818	22038818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgtccttagcctgagtgGatacggaattcctgtcagga	9	11	13	8	1	1	1	1	1	0	0	3	5	3	4	3	3	2	0	3	3	3	3			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr14:22038818G>T	ENST00000303532.1	-	1	57	c.58C>A	c.(58-60)Cca>Aca	p.P20T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	20						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(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGCCTGAGTGGATACGGAATT	0.413																																					p.P20T													.	.			0			c.C58A												75	74	74					14																	22038818		2203	4300	6503	SO:0001583	missense	26533	exon1			TGAGTGGATACGG		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.58C>A	14.37:g.22038818G>T	ENSP00000302437:p.Pro20Thr		27	0	0		20	0.1	2	NM_001005465	0		0	Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.949315	0.00475	.	.	ENSG00000169208	ENST00000303532	T	0.03982	3.74	4.33	4.33	0.51752	.	0.000000	0.46442	D	0.000289	T	0.02848	0.0085	N	0.04724	-0.175	0.33664	D	0.610017	B	0.10296	0.003	B	0.12156	0.007	T	0.33854	-0.9852	10	0.13853	T	0.58	-8.6793	14.6822	0.69026	0.0:0.0:1.0:0.0	.	20	Q8NGC4	O10G3_HUMAN	T	20	ENSP00000302437:P20T	ENSP00000302437:P20T	P	-	1	0	OR10G3	21108658	0.000000	0.05858	0.938000	0.37757	0.281000	0.26958	-0.014000	0.12656	2.120000	0.65058	0.585000	0.79938	CCA			0.413	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401521.1				T	22038818	G	T	22038818	3	4	16	1	0	0	0	0	1	0	0	0	10917	1174	41	3	886	3	OR10G3	14	22038818	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		22038818	85310722	24	1014											
TYRO3	7301	hgsc.bcm.edu;bcgsc.ca	37	chr15	41865666	41865666	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atactgtgcagagtgacgtgGtgagcagggtggcccgtgaa	9	8	17	7	2	0	4	0	3	0	1	0	4	0	4	1	3	3	2	1	3	2	1	rs77680822		TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr15:41865666G>T	ENST00000263798.3	+	17	2369		c.e17+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGTGACGTGGTGAGCAGGGT	0.582																																					.													.	.			0			c.2145+1G>T												87	81	83					15																	41865666		2203	4300	6503	SO:0001630	splice_region_variant	7301	exon17			GACGTGGTGAGCA	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2145+1G>T	15.37:g.41865666G>T			95	0	0		121	0.09	11	NM_006293	0		0	O14953|Q86VR3	Splice_Site	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475047	0.84640	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1858	0.93644	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39652958	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.869000	0.99810	2.531000	0.85337	0.655000	0.94253	.			0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252693.2			Intron	T	41865666	G	T	41865666	5	4	16	1	0	0	0	0	0	0	1	0	16838	1275	44	3	2212	3	TYRO3	15	41865666	Splice_Site	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		41865666	60665726	25	1015											
TMEM62	80021	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	43470879	43470879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacatcttctactattctGtgttgttgttgaccctgtat	8	19	6	8	0	3	1	0	1	3	0	3	1	3	1	1	0	2	4	1	0	5	9			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr15:43470879G>A	ENST00000260403.2	+	12	1735	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M	EPB42_ENST00000563128.1_5'Flank|TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	486						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)		CTACTATTCTGTGTTGTTGTT	0.313																																					p.V486M													.	.			0			c.G1456A												127	117	121					15																	43470879		2202	4298	6500	SO:0001583	missense	80021	exon12			TATTCTGTGTTGT	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.1456G>A	15.37:g.43470879G>A	ENSP00000260403:p.Val486Met		75	0	0		142	0.11	16	NM_024956	9	0	0	Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	G	9.801	1.180521	0.21787	.	.	ENSG00000137842	ENST00000260403	.	.	.	5.65	-1.97	0.07503	.	0.382601	0.29861	N	0.011013	T	0.37732	0.1014	L	0.55481	1.735	0.35483	D	0.798345	B	0.31209	0.313	B	0.26614	0.071	T	0.12502	-1.0545	9	0.41790	T	0.15	-0.3901	5.8251	0.18548	0.4249:0.0:0.3797:0.1954	.	486	Q0P6H9	TMM62_HUMAN	M	486	.	ENSP00000260403:V486M	V	+	1	0	TMEM62	41258171	0.000000	0.05858	0.774000	0.31636	0.715000	0.41141	-0.542000	0.06091	-0.533000	0.06323	-0.768000	0.03414	GTG			0.313	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432227.1		NM_024956		A	43470879	G	A	43470879	3	1	16	1	0	0	0	0	1	0	0	0	16212	1377	48	3	1502	3	TMEM62	15	43470879	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	1605213	43470879	59060513	26	1016											
MEF2A	4205	hgsc.bcm.edu	37	chr15	100211846	100211846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttgataatatgatgcGgaatcataaaatcgcagtga	16	11	10	4	2	1	3	1	3	0	0	2	5	1	5	0	2	1	1	0	2	6	4	rs75705863		TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr15:100211846G>A	ENST00000354410.5	+	5	1009	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000338042.6_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	127					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|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)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AATATGATGCGGAATCATAAA	0.353																																					p.R127Q													MEF2A_ENST00000354410,NS,carcinoma,+1,1	MEF2A_ENST00000354410	1	1	0			c.G380A												23	21	22					15																	100211846		1829	4075	5904	SO:0001583	missense	4205	exon5			TGATGCGGAATCA		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.380G>A	15.37:g.100211846G>A	ENSP00000346389:p.Arg127Gln		23	0.0434782609	1		54	0.07	4	NM_005587	4	0	0	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000354410.5	37	CCDS45362.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210988	0.39102	.	.	ENSG00000068305	ENST00000354410	T	0.53640	0.61	5.42	5.42	0.78866	Holliday junction regulator protein family C-terminal repeat (1);	0.388740	0.29028	N	0.013366	T	0.33731	0.0873	N	0.10916	0.065	0.80722	D	1	B;B	0.29301	0.241;0.203	B;B	0.37422	0.249;0.135	T	0.11916	-1.0568	10	0.05833	T	0.94	-16.9184	19.5673	0.95398	0.0:0.0:1.0:0.0	.	127;127	Q02078;Q02078-5	MEF2A_HUMAN;.	Q	127	ENSP00000346389:R127Q	ENSP00000346389:R127Q	R	+	2	0	MEF2A	98029369	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.706000	0.92434	0.462000	0.41574	CGG			0.353	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000415980.1				A	100211846	G	A	100211846	3	1	16	1	0	0	0	0	1	0	0	0	9471	1116	39	1	526	1	MEF2A	15	100211846	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	56740967	100211846	2319546	27	1017											
C1QTNF8	390664	mdanderson.org	37	chr16	1143813	1143813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcggcccgcggccaggtcGaaggcgccgtccaggttcac	7	4	15	15	6	1	0	1	0	0	0	3	1	2	0	4	5	1	1	4	5	2	1			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr16:1143813G>A	ENST00000328449.5	-	4	720	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	149	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CGGCCAGGTCGAAGGCGCCGT	0.672																																					p.F149F													.	.			0			c.C447T												32	36	34					16																	1143813		2194	4291	6485	SO:0001819	synonymous_variant	390664	exon4			CAGGTCGAAGGCG	AY358832	CCDS32358.1	16p13.3	2014-08-12			ENSG00000184471	ENSG00000184471			31374	protein-coding gene	gene with protein product		614147				12975309	Standard	NM_207419		Approved	UNQ5829, CTRP8	uc010uuw.1	P60827	OTTHUMG00000167756	ENST00000328449.5:c.447C>T	16.37:g.1143813G>A			33	0	0		16	0.13	2	NM_207419	0		0	B7U178	Silent	SNP	ENST00000328449.5	37	CCDS32358.1																																																																																					0.672	C1QTNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396120.1		XM_372606		A	1143813	G	A	1143813	2	1	16	1	0	0	0	0	0	0	0	1	1971	1049	37	1		1	C1QTNF8	16	1143813	Silent	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		1143813	89210940	28	1018											
KIAA0430	9665	broad.mit.edu	37	chr16	15709776	15709776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttacacctggaacacagGtaatgaagtgttctaaggga	13	11	11	6	0	1	1	0	1	1	0	1	3	1	3	1	3	2	3	1	3	5	5			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr16:15709776G>T	ENST00000396368.3	-	16	3370	c.3164C>A	c.(3163-3165)aCc>aAc	p.T1055N	KIAA0430_ENST00000548025.1_Missense_Mutation_p.T1052N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.T1052N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.T657N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.T1055N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T890N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1055	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGAACACAGGTAATGAAGTG	0.448																																					p.T1055N													.	KIAA0430	154		0			c.C3164A												172	168	169					16																	15709776		1931	4146	6077	SO:0001583	missense	9665	exon16			ACACAGGTAATGA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3164C>A	16.37:g.15709776G>T	ENSP00000379654:p.Thr1055Asn		136	0	0		207	0.02	4	NM_014647	11	0	0	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548104	0.86022	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	L	0.51422	1.61	0.80722	D	1	P;D;D;P	0.57571	0.702;0.98;0.98;0.578	B;P;P;B	0.53689	0.398;0.732;0.732;0.224	T	0.68788	-0.5316	9	0.56958	D	0.05	.	18.2165	0.89887	0.0:0.0:1.0:0.0	.	1054;1052;1051;1054	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	1055;890;657;1052;1055;835	.	ENSP00000341939:T657N	T	-	2	0	KIAA0430	15617277	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.372000	0.79612	2.293000	0.77203	0.563000	0.77884	ACC			0.448	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252131.2		NM_014647		T	15709776	G	T	15709776	3	4	16	1	0	0	0	0	1	0	0	0	8192	1261	44	3	2112	3	KIAA0430	16	15709776	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	14565963	15709776	74644977	29	1019											
ERI2	112479	broad.mit.edu	37	chr16	20809122	20809122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtcacaaatatggcttGtttctggagaactaaaagtg	12	14	9	6	0	3	1	1	0	2	1	3	2	3	1	0	2	1	2	0	2	5	5	rs76921366	byFrequency	TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr16:20809122G>T	ENST00000357967.4	-	9	2042	c.2000C>A	c.(1999-2001)aCa>aAa	p.T667K	ERI2_ENST00000563117.1_Missense_Mutation_p.T574K|ERI2_ENST00000389345.5_Missense_Mutation_p.T402K|ERI2_ENST00000564349.1_Missense_Mutation_p.T574K|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000569729.1_3'UTR	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	667							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						AATATGGCTTGTTTCTGGAGA	0.378																																					p.T667K													.	ERI2	50		0			c.C2000A												83	81	81					16																	20809122		692	1591	2283	SO:0001583	missense	112479	exon9			TGGCTTGTTTCTG	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.2000C>A	16.37:g.20809122G>T	ENSP00000350651:p.Thr667Lys		83	0.0481927711	4		155	0.1	15	NM_001142725	14	0.14	2	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	G	3.249	-0.153752	0.06585	.	.	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.19669	2.17;2.13	5.67	-1.93	0.07594	.	0.481969	0.20229	N	0.096535	T	0.12944	0.0314	L	0.35723	1.085	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.14227	-1.0480	10	0.52906	T	0.07	-1.442	5.4443	0.16527	0.2501:0.0:0.5369:0.213	.	667	A8K979	ERI2_HUMAN	K	667;402	ENSP00000350651:T667K;ENSP00000373996:T402K	ENSP00000350651:T667K	T	-	2	0	ERI2	20716623	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-0.187000	0.09656	-0.480000	0.06803	-0.813000	0.03139	ACA			0.378	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_080663		T	20809122	G	T	20809122	3	4	16	1	0	0	0	0	1	0	0	0	5235	1377	48	3	346	3	ERI2	16	20809122	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	5099346	20809122	69545631	30	1020											
ALOX12B	242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7982769	7982769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagtgcagcaggcagaggGgggcgcagtggtgctgcttc	8	6	18	9	1	0	1	0	0	0	1	1	1	0	1	0	5	4	6	0	5	1	1			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr17:7982769G>A	ENST00000319144.4	-	8	1276	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	339	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						CAGGCAGAGGGGGGCGCAGTG	0.672										Multiple Myeloma(8;0.094)																											p.P339L													.	.			0			c.C1016T												21	19	20					17																	7982769		2123	4154	6277	SO:0001583	missense	242	exon8			CAGAGGGGGGCGC	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.1016C>T	17.37:g.7982769G>A	ENSP00000315167:p.Pro339Leu		201	0	0		197	0.17	34	NM_001139	0		0		Missense_Mutation	SNP	ENST00000319144.4	37	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206096	0.95033	.	.	ENSG00000179477	ENST00000319144	D	0.91894	-2.93	4.69	4.69	0.59074	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98204	1.0469	10	0.87932	D	0	-26.6189	16.7891	0.85583	0.0:0.0:1.0:0.0	.	339	O75342	LX12B_HUMAN	L	339	ENSP00000315167:P339L	ENSP00000315167:P339L	P	-	2	0	ALOX12B	7923494	1.000000	0.71417	0.941000	0.38009	0.928000	0.56348	9.589000	0.98235	2.352000	0.79861	0.442000	0.29010	CCC			0.672	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226984.3				A	7982769	G	A	7982769	3	1	16	1	0	0	0	0	1	0	0	0	537	1232	43	3	1121	3	ALOX12B	17	7982769	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		7982769	73212441	31	1021											
PLD6	201164	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	17109307	17109307	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggctggagaaggcgaaCaggcagagatccaggctggc	10	4	18	9	2	0	2	0	0	0	2	1	5	1	2	1	6	2	3	1	6	2	0	rs551772087		TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr17:17109307C>A	ENST00000321560.3	-	1	322	c.294G>T	c.(292-294)ctG>ctT	p.L98L	RP11-45M22.4_ENST00000427497.3_Intron	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	98					DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)	2						AGAAGGCGAACAGGCAGAGAT	0.731													C|||	1	0.000199681	8e-04	0	5008	,	,		11874	0		0	False		,,,				2504	0				p.L98L													.	PLD6	9		0			c.G294T												5	5	5					17																	17109307		2100	4130	6230	SO:0001819	synonymous_variant	201164	exon1			GGCGAACAGGCAG	AK090899	CCDS11182.1	17p11.2	2008-08-14			ENSG00000179598	ENSG00000179598			30447	protein-coding gene	gene with protein product		614960				12477932	Standard	NM_178836		Approved		uc002gqz.3	Q8N2A8	OTTHUMG00000059278	ENST00000321560.3:c.294G>T	17.37:g.17109307C>A			48	0.0208333333	1		31	0.19	6	NM_178836	1	0	0	Q8N5Y1	Silent	SNP	ENST00000321560.3	37	CCDS11182.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620225	0.28801	.	.	ENSG00000179598	ENST00000427497	.	.	.	4.26	-4.22	0.03800	.	.	.	.	.	T	0.66218	0.2767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71371	-0.4613	5	0.87932	D	0	-7.0137	10.6344	0.45556	0.1528:0.4722:0.375:0.0	.	.	.	.	F	72	.	ENSP00000394249:V72F	V	-	1	0	PLD6	17050032	.	.	0.953000	0.39169	0.886000	0.51366	.	.	-0.426000	0.07360	0.449000	0.29647	GTT			0.731	PLD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131600.2		NM_178836		A	17109307	C	A	17109307	2	1	16	1	0	0	0	0	0	0	0	1	12067	465	17	3		3	PLD6	17	17109307	Silent	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10	9126538	17109307	64085903	32	1022											
FZR1	51343	broad.mit.edu	37	chr19	3531983	3531983	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagagggacatccgcAccccgccactgcagtcggag	8	5	12	16	3	0	1	0	0	0	1	3	3	2	3	5	2	2	3	5	2	0	0	rs200584048		TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr19:3531983A>C	ENST00000395095.3	+	9	898	c.898A>C	c.(898-900)Acc>Ccc	p.T300P	FZR1_ENST00000313639.8_Missense_Mutation_p.T211P|FZR1_ENST00000441788.2_Missense_Mutation_p.T300P	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	300					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)		GGACATCCGCACCCCGCCACT	0.711																																					p.T300P													.	FZR1	42		0			c.A898C												8	10	9					19																	3531983		2136	4221	6357	SO:0001583	missense	51343	exon9			ATCCGCACCCCGC	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.898A>C	19.37:g.3531983A>C	ENSP00000378529:p.Thr300Pro		30	0.3	9		31	0.42	13	NM_001136198	74	0.16	12	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537243	0.65085	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.59502	1.35;1.35;0.26	5.42	1.97	0.26223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.250630	0.46758	D	0.000275	T	0.64360	0.2591	M	0.69248	2.105	0.51012	D	0.999904	B;P;P	0.47034	0.352;0.725;0.889	B;P;P	0.58013	0.163;0.533;0.831	T	0.61584	-0.7033	10	0.62326	D	0.03	-34.4525	5.2095	0.15308	0.6487:0.0:0.0798:0.2715	.	300;211;300	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	P	300;300;211	ENSP00000410369:T300P;ENSP00000378529:T300P;ENSP00000321800:T211P	ENSP00000321800:T211P	T	+	1	0	FZR1	3482983	0.703000	0.27826	0.927000	0.36925	0.829000	0.46940	1.802000	0.38853	0.304000	0.22809	0.459000	0.35465	ACC			0.711	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000452869.2		NM_016263		C	3531983	A	C	3531983	3	2	16	1	0	0	0	0	1	0	0	0	6151	159	6	4	932	4	FZR1	19	3531983	Missense_Mutation	SNP	A	TCGA-2G-AAFY-01A-11D-A42Y-10		3531983	55597000	33	1023											
HMG20B	10362	mdanderson.org	37	chr19	3573771	3573771	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcgagggtccacgcgcGggcgagaaggggtcccacga	7	2	19	13	8	0	1	0	0	0	1	2	4	2	1	2	5	0	0	2	5	1	0			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr19:3573771G>T	ENST00000333651.6	+	3	195	c.120G>T	c.(118-120)gcG>gcT	p.A40A	MFSD12_ENST00000591878.1_5'UTR|HMG20B_ENST00000585741.1_3'UTR	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	40					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCACGCGCGGGCGAGAAGG	0.741																																					p.A40A													.	.			0			c.G120T												11	17	15					19																	3573771		1927	4093	6020	SO:0001819	synonymous_variant	10362	exon3			ACGCGCGGGCGAG	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"High mobility group / Non-canonical"	5002	protein-coding gene	gene with protein product	"HMG box domain containing 2"	605535	"high-mobility group 20B"			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.120G>T	19.37:g.3573771G>T			40	0	0		49	0.06	3	NM_006339	40	0	0	A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Silent	SNP	ENST00000333651.6	37	CCDS45919.1																																																																																					0.741	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318088.1		NM_006339		T	3573771	G	T	3573771	2	4	16	1	0	0	0	0	0	0	0	1	7237	1103	39	1		1	HMG20B	19	3573771	Silent	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	41788	3573771	55555212	34	1024											
TIMM44	10469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	7998431	7998431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaccacttggagtccttGtgcagcacgacccccagggc	7	8	12	14	1	0	0	0	0	0	0	1	2	1	1	4	3	3	3	4	3	1	3			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr19:7998431G>A	ENST00000270538.3	-	7	976	c.708C>T	c.(706-708)caC>caT	p.H236H	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	236					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGGAGTCCTTGTGCAGCACGA	0.652																																					p.H236H													.	.			0			c.C708T												231	213	219					19																	7998431		2203	4300	6503	SO:0001819	synonymous_variant	10469	exon7			GTCCTTGTGCAGC	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.708C>T	19.37:g.7998431G>A			163	0	0		169	0.17	29	NM_006351	188	0.31	59	A8K0R9|D6W664|Q8N193	Silent	SNP	ENST00000270538.3	37	CCDS12192.1																																																																																					0.652	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461596.3				A	7998431	G	A	7998431	2	1	16	1	0	0	0	0	0	0	0	1	15935	1368	48	3		3	TIMM44	19	7998431	Silent	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10	4424660	7998431	51130552	35	1025											
RAD23A	5886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13058807	13058807	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgagaagaactttgtggTcgtcatggtgaccaaggtgg	10	10	15	6	2	1	3	1	2	0	2	2	5	1	3	1	4	1	0	1	4	3	1			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr19:13058807T>A	ENST00000586534.1	+	2	279	c.218T>A	c.(217-219)gTc>gAc	p.V73D	RAD23A_ENST00000316856.3_Missense_Mutation_p.V73D|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.V73D|RAD23A_ENST00000541222.1_5'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	73	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AACTTTGTGGTCGTCATGGTG	0.572								Nucleotide excision repair (NER)																													p.V73D													RAD23A,NS,carcinoma,+1,1	RAD23A	1	1	0			c.T218A												158	145	149					19																	13058807		2203	4300	6503	SO:0001583	missense	5886	exon2			TTGTGGTCGTCAT		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.218T>A	19.37:g.13058807T>A	ENSP00000467024:p.Val73Asp		62	0	0		58	0.14	8	NM_005053	295	0.29	87	K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084150	0.76642	.	.	ENSG00000179262	ENST00000316856	T	0.77489	-1.1	4.84	4.84	0.62591	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.64402	D	0.000001	D	0.89839	0.6831	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	0.999;0.98;1.0	D;P;D	0.91635	0.999;0.885;0.999	D	0.91969	0.5585	10	0.87932	D	0	-42.1099	13.3979	0.60865	0.0:0.0:0.0:1.0	.	73;90;73	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	D	73	ENSP00000321365:V73D	ENSP00000321365:V73D	V	+	2	0	RAD23A	12919807	1.000000	0.71417	0.963000	0.40424	0.980000	0.70556	5.574000	0.67424	1.803000	0.52742	0.528000	0.53228	GTC			0.572	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000452752.1		NM_005053		A	13058807	T	A	13058807	3	1	16	1	0	0	0	0	1	0	0	0	13005	1667	58	5	224	5	RAD23A	19	13058807	Missense_Mutation	SNP	T	TCGA-2G-AAFY-01A-11D-A42Y-10	5060376	13058807	46070176	36	1026											
BRD4	23476	broad.mit.edu	37	chr19	15350233	15350233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactggagtcttcggctcCtgtttctgtttgtccttgtc	3	17	10	11	1	2	0	0	0	2	0	6	1	4	1	2	2	1	4	2	2	1	4			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr19:15350233C>T	ENST00000263377.2	-	17	3767	c.3546G>A	c.(3544-3546)caG>caA	p.Q1182Q		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1182	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTTCGGCTCCTGTTTCTGTT	0.632			T	C15orf55	lethal midline carcinoma of young people																																p.Q1182Q				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	BRD4	172		0			c.G3546A												70	70	70					19																	15350233		2203	4300	6503	SO:0001819	synonymous_variant	23476	exon17			CGGCTCCTGTTTC	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3546G>A	19.37:g.15350233C>T			161	0	0		166	0.02	4	NM_058243	128	0.02	2	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	CCDS12328.1																																																																																					0.632	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000465800.3		NM_058243		T	15350233	C	T	15350233	2	4	16	1	0	0	0	0	0	0	0	1	1506	680	24	3		3	BRD4	19	15350233	Silent	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10	2291426	15350233	43778750	37	1027											
LYPD3	27076	mdanderson.org	37	chr19	43967282	43967282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggggctccctcacctgcCgtcaaggtgacgttgccgtc	4	9	12	16	4	2	1	2	1	0	0	5	1	4	1	5	3	2	2	5	3	1	1			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr19:43967282C>T	ENST00000244333.3	-	4	628	c.540G>A	c.(538-540)acG>acA	p.T180T		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	180	UPAR/Ly6 2.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CCTCACCTGCCGTCAAGGTGA	0.637																																					p.T180T													.	.			0			c.G540A												86	79	81					19																	43967282		2203	4300	6503	SO:0001819	synonymous_variant	27076	exon4			ACCTGCCGTCAAG	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.540G>A	19.37:g.43967282C>T			53	0	0		37	0.08	3	NM_014400	6	0	0	Q9UJ74	Silent	SNP	ENST00000244333.3	37	CCDS12620.1																																																																																					0.637	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463177.1		NM_014400		T	43967282	C	T	43967282	2	4	16	1	0	0	0	0	0	0	0	1	9127	639	23	1		1	LYPD3	19	43967282	Silent	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10	28617049	43967282	15161701	38	1028											
AVP	551	mdanderson.org	37	chr20	3063730	3063730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcctggcagcgcagcGcctcagccgtgcccacgaag	6	6	11	18	4	2	0	1	0	1	0	4	1	3	0	5	1	4	2	5	1	1	0			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr20:3063730G>A	ENST00000380293.3	-	2	264	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	72					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)		GCAGCGCAGCGCCTCAGCCGT	0.746																																					p.A72V													.	.			0			c.C215T												5	6	6					20																	3063730		2018	4019	6037	SO:0001583	missense	551	exon2			CGCAGCGCCTCAG	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.215C>T	20.37:g.3063730G>A	ENSP00000369647:p.Ala72Val		13	0	0		10	0.3	3	NM_000490	11	0	0	A0AV35|O14935	Missense_Mutation	SNP	ENST00000380293.3	37	CCDS13045.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397458	0.83120	.	.	ENSG00000101200	ENST00000380293	D	0.97888	-4.59	4.71	2.66	0.31614	.	0.276683	0.39341	N	0.001384	D	0.96605	0.8892	M	0.70595	2.14	0.32368	N	0.556215	D	0.55800	0.973	P	0.46659	0.523	D	0.96179	0.9129	10	0.72032	D	0.01	.	9.9266	0.41496	0.0774:0.1384:0.7842:0.0	.	72	P01185	NEU2_HUMAN	V	72	ENSP00000369647:A72V	ENSP00000369647:A72V	A	-	2	0	AVP	3011730	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.130000	0.64745	0.968000	0.38212	0.491000	0.48974	GCG			0.746	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077713.2		NM_000490		A	3063730	G	A	3063730	3	1	16	1	0	0	0	0	1	0	0	0	1229	1087	38	1	287	1	AVP	20	3063730	Missense_Mutation	SNP	G	TCGA-2G-AAFY-01A-11D-A42Y-10		3063730	59961790	39	1029											
NINL	22981	mdanderson.org	37	chr20	25439019	25439019	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgctgcatccccacttacCcgctgtgcatccaggcgcct	5	9	8	19	3	0	0	0	0	0	0	3	0	2	0	5	1	3	4	5	1	1	1			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr20:25439019C>T	ENST00000278886.6	-	22	3916	c.3843G>A	c.(3841-3843)cgG>cgA	p.R1281R	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Splice_Site_p.R932R	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1281					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						CCCCACTTACCCGCTGTGCAT	0.647																																					p.R1281R													.	.			0			c.G3843A												76	66	69					20																	25439019		2203	4300	6503	SO:0001630	splice_region_variant	22981	exon22			ACTTACCCGCTGT		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.3843+1G>A	20.37:g.25439019C>T			36	0	0		20	0.15	3	NM_025176	39	0	0	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	CCDS33452.1																																																																																					0.647	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078445.3		NM_025176	Silent	T	25439019	C	T	25439019	5	4	16	1	0	0	0	0	0	0	1	0	10437	637	22	3	317	3	NINL	20	25439019	Splice_Site	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10	22375289	25439019	37586501	40	1030											
C20orf195	79025	mdanderson.org	37	chr20	62187284	62187284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacctggccctgggcgacCagaacccgctggtgctgcct	6	6	13	16	2	0	1	0	0	0	1	0	2	0	1	5	3	4	3	5	3	1	0			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr20:62187284C>A	ENST00000370098.3	+	2	360	c.268C>A	c.(268-270)Cag>Aag	p.Q90K	C20orf195_ENST00000370097.1_Missense_Mutation_p.Q90K	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	90						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCTGGGCGACCAGAACCCGCT	0.627																																					p.Q90K													.	.			0			c.C268A												56	50	52					20																	62187284		2203	4300	6503	SO:0001583	missense	79025	exon2			GGCGACCAGAACC		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.268C>A	20.37:g.62187284C>A	ENSP00000359116:p.Gln90Lys		16	0	0		21	0.14	3	NM_024059	5	0	0		Missense_Mutation	SNP	ENST00000370098.3	37	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045080	0.75846	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.37	5.37	0.77165	.	0.000000	0.49305	D	0.000146	T	0.56587	0.1995	L	0.32530	0.975	0.33347	D	0.570618	D	0.54207	0.965	P	0.55615	0.78	T	0.68704	-0.5338	9	0.72032	D	0.01	-31.3003	14.6741	0.68967	0.0:0.8548:0.1452:0.0	.	90	Q9BVV2	CT195_HUMAN	K	90	.	ENSP00000359115:Q90K	Q	+	1	0	C20orf195	61657728	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.917000	0.48821	2.516000	0.84829	0.655000	0.94253	CAG			0.627	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080155.1		NM_024059		A	62187284	C	A	62187284	3	1	16	1	0	0	0	0	1	0	0	0	2102	595	21	3	270	3	C20orf195	20	62187284	Missense_Mutation	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10	36748265	62187284	838236	41	1031											
HIC2	23119	broad.mit.edu;mdanderson.org	37	chr22	21799538	21799538	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgagcccaacttcagcacCctcctcactgccgccagcta	8	6	7	20	2	2	0	2	0	0	0	3	1	3	0	6	0	5	2	6	0	2	2			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chr22:21799538C>A	ENST00000443632.2	+	2	726	c.354C>A	c.(352-354)acC>acA	p.T118T	HIC2_ENST00000407598.2_Silent_p.T118T|HIC2_ENST00000407464.2_Silent_p.T118T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	118					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACTTCAGCACCCTCCTCACTG	0.637																																					p.T118T	NSCLC(23;437 858 2282 27947 40366)												.	HIC2	42		0			c.C354A												49	51	51					22																	21799538		2203	4300	6503	SO:0001819	synonymous_variant	23119	exon3			CAGCACCCTCCTC	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.354C>A	22.37:g.21799538C>A			58	0	0		75	0.08	6	NM_015094	20	0.5	10	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	CCDS13789.1																																																																																					0.637	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320061.2				A	21799538	C	A	21799538	2	1	16	1	0	0	0	0	0	0	0	1	7117	610	22	3		3	HIC2	22	21799538	Silent	SNP	C	TCGA-2G-AAFY-01A-11D-A42Y-10		21799538	29505028	42	1032											
PNPLA4	8228	broad.mit.edu	37	chrX	7868821	7868821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcttgcttgggggaaaaAgggcttggttgagtctcacc	7	12	13	9	0	2	1	1	1	2	0	4	2	3	2	2	4	1	3	2	4	2	4			TCGA-2G-AAFY-01A-11D-A42Y-10	TCGA-2G-AAFY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6fcf0ebe-135e-4a5d-bce6-68fa0e4c3961	533341c5-782e-418a-8db9-996ff3f09e94	g.chrX:7868821A>G	ENST00000381042.4	-	7	838	c.668T>C	c.(667-669)cTt>cCt	p.L223P	PNPLA4_ENST00000444736.1_Missense_Mutation_p.L223P|PNPLA4_ENST00000537427.1_Missense_Mutation_p.L136P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	223					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGGGGGAAAAAGGGCTTGGTT	0.353																																					p.L223P													.	PNPLA4	24		0			c.T668C												57	52	54					X																	7868821		2203	4299	6502	SO:0001583	missense	8228	exon7			GGAAAAAGGGCTT	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.668T>C	X.37:g.7868821A>G	ENSP00000370430:p.Leu223Pro		165	0	0		371	0.01	5	NM_004650	94	0	0	A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341460	0.41498	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	T;T;T	0.81078	-1.45;-1.45;-1.45	4.38	4.38	0.52667	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.193685	0.33127	N	0.005243	D	0.89866	0.6839	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90635	0.4570	10	0.87932	D	0	-22.634	9.3053	0.37872	1.0:0.0:0.0:0.0	.	223	P41247	PLPL4_HUMAN	P	223;223;136	ENSP00000370430:L223P;ENSP00000415245:L223P;ENSP00000443157:L136P	ENSP00000370430:L223P	L	-	2	0	PNPLA4	7828821	1.000000	0.71417	0.139000	0.22197	0.388000	0.30384	5.486000	0.66856	1.452000	0.47756	0.481000	0.45027	CTT			0.353	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055687.1		NM_004650		G	7868821	A	G	7868821	3	3	16	1	0	0	0	0	1	0	0	0	12184	72	3	4	97	4	PNPLA4	23	7868821	Missense_Mutation	SNP	A	TCGA-2G-AAFY-01A-11D-A42Y-10		7868821	147401739	43	1033											
KIF17	57576	broad.mit.edu	37	chr1	21011461	21011461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctccaaccacacgccaGgctctgctgtccgcaccacc	8	5	8	20	2	1	0	0	0	1	0	3	1	3	0	7	1	3	3	7	1	1	0			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr1:21011461G>T	ENST00000247986.2	-	10	2382	c.2072C>A	c.(2071-2073)cCt>cAt	p.P691H	KIF17_ENST00000400463.3_Missense_Mutation_p.P691H|KIF17_ENST00000375044.1_Missense_Mutation_p.P591H|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	691					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACACGCCAGGCTCTGCTGT	0.662																																					p.P691H													.	KIF17	130		0			c.C2072A												38	34	35					1																	21011461		2203	4299	6502	SO:0001583	missense	57576	exon10			ACGCCAGGCTCTG	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2072C>A	1.37:g.21011461G>T	ENSP00000247986:p.Pro691His		222	0	0		201	0.02	5	NM_020816	6	0	0	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417730	0.42918	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.71103	-0.54;-0.43;-0.43	3.86	1.92	0.25849	.	0.896381	0.09043	U	0.857061	T	0.71169	0.3308	L	0.46157	1.445	0.09310	N	1	D;D;P	0.63046	0.986;0.992;0.838	P;P;B	0.55999	0.62;0.789;0.358	T	0.57148	-0.7861	10	0.49607	T	0.09	.	4.3236	0.11029	0.1172:0.0:0.6574:0.2255	.	691;691;691	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	H	591;691;691;72	ENSP00000364184:P591H;ENSP00000383311:P691H;ENSP00000247986:P691H	ENSP00000247986:P691H	P	-	2	0	KIF17	20884048	0.253000	0.23982	0.066000	0.19879	0.033000	0.12548	0.966000	0.29331	0.557000	0.29117	0.655000	0.94253	CCT			0.662	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000276995.1		NM_020816		T	21011461	G	T	21011461	3	4	17	1	0	0	0	0	1	0	0	0	8294	1000	35	3	1041	3	KIF17	1	21011461	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10		21011461	228239160	1	1034											
PEF1	553115	hgsc.bcm.edu	37	chr1	32096374	32096374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatggcaggattggcagagCgtgggcagtagcgggagacc	9	5	19	8	2	0	2	0	0	0	2	0	4	0	3	1	5	2	5	1	5	1	2	rs371830019		TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr1:32096374C>T	ENST00000373703.4	-	5	717	c.695G>A	c.(694-696)cGc>cAc	p.R232H	HCRTR1_ENST00000373705.1_Intron|PEF1_ENST00000492061.1_5'Flank	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	232	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Required for interaction with PDCD6.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		ATTGGCAGAGCGTGGGCAGTA	0.597																																					p.R232H													PEF1,NS,carcinoma,+1,1	PEF1	1	1	0			c.G695A							C	HIS/ARG	0,4406		0,0,2203	58	54	55		695	4	1	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	PEF1	NM_012392.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	232/285	32096374	1,13005	2203	4300	6503	SO:0001583	missense	553115	exon5			GCAGAGCGTGGGC		CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"EF-hand domain containing"	30009	protein-coding gene	gene with protein product	"peflin"	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.695G>A	1.37:g.32096374C>T	ENSP00000362807:p.Arg232His		69	0.0144927536	1		42	0.05	2	NM_012392	195	0	0		Missense_Mutation	SNP	ENST00000373703.4	37	CCDS345.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278857	0.80692	0.0	1.16E-4	ENSG00000162517	ENST00000373703	D	0.84660	-1.88	4.92	4.0	0.46444	EF-hand-like domain (1);	0.098325	0.64402	N	0.000002	D	0.89746	0.6804	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.89845	0.4005	10	0.72032	D	0.01	.	9.8427	0.41008	0.0:0.8279:0.0:0.1721	.	232	Q9UBV8	PEF1_HUMAN	H	232	ENSP00000362807:R232H	ENSP00000362807:R232H	R	-	2	0	PEF1	31868961	0.855000	0.29742	1.000000	0.80357	0.994000	0.84299	2.787000	0.47798	1.390000	0.46547	0.650000	0.86243	CGC			0.597	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011046.1		NM_012392		T	32096374	C	T	32096374	3	4	17	1	0	0	0	0	1	0	0	0	11735	768	27	1	163	1	PEF1	1	32096374	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	11084913	32096374	217154247	2	1035											
ZNF362	149076	mdanderson.org	37	chr1	33742069	33742069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttgctagtgccgccggcaCccgccgagagcagccaggcc	6	4	14	17	5	0	1	0	0	0	1	0	2	0	1	6	2	4	4	6	2	1	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr1:33742069C>A	ENST00000539719.1	+	4	393	c.223C>A	c.(223-225)Ccc>Acc	p.P75T	ZNF362_ENST00000373428.5_Missense_Mutation_p.P75T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	75					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)				GCCGCCGGCACCCGCCGAGAG	0.697																																					p.P75T	Pancreas(162;1431 2676 35353 38425)												.	.			0			c.C223A												7	7	7					1																	33742069		1964	3889	5853	SO:0001583	missense	149076	exon4			CCGGCACCCGCCG		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.223C>A	1.37:g.33742069C>A	ENSP00000446335:p.Pro75Thr		28	0	0		24	0.13	3	NM_152493	11	0	0	Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	CCDS377.1	.	.	.	.	.	.	.	.	.	.	C	8.709	0.911565	0.17833	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.08008	3.14;3.14	4.24	4.24	0.50183	.	0.653044	0.12596	N	0.455200	T	0.07458	0.0188	L	0.29908	0.895	0.38291	D	0.942691	B	0.06786	0.001	B	0.04013	0.001	T	0.23691	-1.0181	10	0.14252	T	0.57	-8.5671	14.1749	0.65534	0.0:1.0:0.0:0.0	.	75	Q5T0B9	ZN362_HUMAN	T	62;75;75	ENSP00000446335:P75T;ENSP00000362527:P75T	ENSP00000362527:P75T	P	+	1	0	ZNF362	33514656	0.714000	0.27936	0.999000	0.59377	0.891000	0.51852	0.776000	0.26704	2.185000	0.69588	0.650000	0.86243	CCC			0.697	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011857.2		NM_152493		A	33742069	C	A	33742069	3	1	17	1	0	0	0	0	1	0	0	0	17891	507	18	3	233	3	ZNF362	1	33742069	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	1645695	33742069	215508552	3	1036											
RSBN1	54665	broad.mit.edu	37	chr1	114354926	114354926	+	Frame_Shift_Del	DEL	C	C	-																															acatttaaatggcccgaccgCccccccgtccgcgcatcgcg																										TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr1:114354926delC	ENST00000261441.5	-	1	172	c.109delG	c.(109-111)gcgfs	p.A37fs	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	37						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		GGCCCGACCGCCCCCCCGTCC	0.682																																					p.A37fs													.	RSBN1	71		0			c.109delG												28	39	35					1																	114354926		2202	4297	6499	SO:0001589	frameshift_variant	54665	exon1			CGACCGCCCCCCC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.109delG	1.37:g.114354926delC	ENSP00000261441:p.Ala37fs		19	0	0		11	0.27	3	NM_018364	1	0	0	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Frame_Shift_Del	DEL	ENST00000261441.5	37	CCDS862.1																																																																																					0.682	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033022.2		NM_018364		-	114354926	C	-	114354926	7	5	17	1	0	1	0	1	0	0	0	0	13719	739	26	0	2327	0	RSBN1	1	114354926	Frame_Shift_Del	DEL	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	80612857	114354926	134895695	4	1037											
FCRL2	79368	mdanderson.org	37	chr1	157745582	157745582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcctgttcagtgactGcatctgtgaggagatcaaaa	11	10	10	10	0	3	3	2	2	1	1	3	4	3	3	2	1	2	2	2	1	2	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr1:157745582G>A	ENST00000361516.3	-	2	83	c.35C>T	c.(34-36)gCa>gTa	p.A12V	FCRL2_ENST00000392274.3_Missense_Mutation_p.A12V|FCRL2_ENST00000368181.4_Missense_Mutation_p.A12V	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	12					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)			TTCAGTGACTGCATCTGTGAG	0.428																																					p.A12V													.	.			0			c.C35T												115	96	102					1																	157745582		2203	4300	6503	SO:0001583	missense	79368	exon2			GTGACTGCATCTG	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.35C>T	1.37:g.157745582G>A	ENSP00000355157:p.Ala12Val		35	0	0		43	0.07	3	NM_030764	0		0	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	6.186	0.402551	0.11696	.	.	ENSG00000132704	ENST00000361516;ENST00000368181;ENST00000392274	T;T;T	0.24350	1.95;3.5;1.86	4.51	-2.29	0.06805	.	1.645400	0.04265	U	0.341049	T	0.05364	0.0142	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.24426	0.0;0.001;0.103;0.002	B;B;B;B	0.22386	0.0;0.001;0.039;0.007	T	0.40384	-0.9566	10	0.48119	T	0.1	.	8.7613	0.34676	0.5312:0.0:0.4688:0.0	.	12;12;12;12	B4E0W2;B4DVJ9;Q96LA5-5;Q96LA5	.;.;.;FCRL2_HUMAN	V	12	ENSP00000355157:A12V;ENSP00000357163:A12V;ENSP00000376100:A12V	ENSP00000355157:A12V	A	-	2	0	FCRL2	156012206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.296000	0.19083	-0.318000	0.08665	-0.136000	0.14681	GCA			0.428	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051408.2		NM_030764		A	157745582	G	A	157745582	3	1	17	1	0	0	0	0	1	0	0	0	5808	1319	46	2	1535	2	FCRL2	1	157745582	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	43390656	157745582	91505039	5	1038											
MFSD2B	388931	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	24246462	24246462	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccgcaggtccatgctGccagacgtggtggatgactt	6	8	13	14	3	0	2	0	1	0	1	1	3	1	3	5	3	2	2	5	3	0	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr2:24246462G>A	ENST00000406420.3	+	12	1195	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	MFSD2B_ENST00000338315.4_Silent_p.L393L	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	393					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GGTCCATGCTGCCAGACGTGG	0.607																																					p.L393L													.	.			0			c.G1179A												57	63	61					2																	24246462		2130	4230	6360	SO:0001819	synonymous_variant	388931	exon12			CATGCTGCCAGAC		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.1179G>A	2.37:g.24246462G>A			105	0	0		212	0.08	18	NM_001080473	0		0	B5MC32	Silent	SNP	ENST00000406420.3	37	CCDS46228.1																																																																																					0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000324307.1		NM_001080473		A	24246462	G	A	24246462	2	1	17	1	0	0	0	0	0	0	0	1	9547	1306	46	2		2	MFSD2B	2	24246462	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10		24246462	218952911	6	1039											
EGR4	1961	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	73519001	73519001	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcctgggggaaaggggTgggcggcggcggcggcacgg	4	4	24	9	5	0	0	0	0	0	0	0	1	0	1	1	11	0	1	1	11	1	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr2:73519001T>A	ENST00000545030.1	-	2	1428	c.1354A>T	c.(1354-1356)Acc>Tcc	p.T452S	EGR4_ENST00000436467.2_Missense_Mutation_p.T349S	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	452	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|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)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGAAAGGGGTGGGCGGCGGC	0.736																																					p.T452S													.	.			0			c.A1354T												4	5	4					2																	73519001		1837	3805	5642	SO:0001583	missense	1961	exon2			AAGGGGTGGGCGG		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1354A>T	2.37:g.73519001T>A	ENSP00000445626:p.Thr452Ser		23	0	0		14	0.57	8	NM_001965	0		0	B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	T	1.493	-0.554192	0.03996	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.13307	2.6;2.94	4.56	0.284	0.15701	.	1.344230	0.05033	N	0.474979	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33189	-0.9878	10	0.06236	T	0.91	-0.3501	0.8988	0.01269	0.3136:0.3463:0.1532:0.1869	.	349;452	Q05215;G3V1T5	EGR4_HUMAN;.	S	452;349	ENSP00000445626:T452S;ENSP00000419687:T349S	ENSP00000419687:T349S	T	-	1	0	EGR4	73372509	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	-1.384000	0.02542	0.138000	0.18790	-0.242000	0.12053	ACC			0.736	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_001965		A	73519001	T	A	73519001	3	1	17	1	0	0	0	0	1	0	0	0	4979	1696	59	5	419	5	EGR4	2	73519001	Missense_Mutation	SNP	T	TCGA-2G-AAFZ-01A-11D-A42Y-10	49272539	73519001	169680372	7	1040											
TMEM131	23505	mdanderson.org	37	chr2	98418952	98418952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagccagaggaataaactGaacatagacaggaacatctg	19	6	9	7	0	1	3	0	1	1	2	1	5	1	5	1	2	4	0	1	2	8	3			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr2:98418952G>T	ENST00000186436.5	-	24	2818	c.2590C>A	c.(2590-2592)Cag>Aag	p.Q864K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	864						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGAATAAACTGAACATAGACA	0.318																																					p.Q864K													.	.			0			c.C2590A												111	107	108					2																	98418952		1823	4080	5903	SO:0001583	missense	23505	exon24			TAAACTGAACATA	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2590C>A	2.37:g.98418952G>T	ENSP00000186436:p.Gln864Lys		177	0	0		119	0.04	5	NM_015348	41	0	0		Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789073	0.90367	.	.	ENSG00000075568	ENST00000186436	T	0.38560	1.13	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.63843	1.955	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.59451	-0.7452	10	0.45353	T	0.12	-11.4698	20.0566	0.97653	0.0:0.0:1.0:0.0	.	864	Q92545	TM131_HUMAN	K	864	ENSP00000186436:Q864K	ENSP00000186436:Q864K	Q	-	1	0	TMEM131	97785384	1.000000	0.71417	0.981000	0.43875	0.877000	0.50540	9.476000	0.97823	2.750000	0.94351	0.467000	0.42956	CAG			0.318	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329285.2		XM_371542		T	98418952	G	T	98418952	3	4	17	1	0	0	0	0	1	0	0	0	16067	1299	45	3	3133	3	TMEM131	2	98418952	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	24899951	98418952	144780421	8	1041											
TANC1	85461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	159992709	159992709	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttcccactacaggtccCgtcaggaagcccaagtatgt	10	10	8	13	1	2	0	1	0	1	0	4	1	4	1	3	2	2	1	3	2	4	3	rs375201296	byFrequency	TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr2:159992709C>G	ENST00000263635.6	+	5	501	c.264C>G	c.(262-264)ccC>ccG	p.P88P	TANC1_ENST00000454300.1_Silent_p.P88P	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	88					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)		p.P88P(2)		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						CTACAGGTCCCGTCAGGAAGC	0.483																																					p.P88P													TANC1,NS,carcinoma,0,2	TANC1	0	2	2	Substitution - coding silent(2)	lung(2)	c.C264G												140	144	143					2																	159992709		1921	4127	6048	SO:0001819	synonymous_variant	85461	exon5			AGGTCCCGTCAGG	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.264C>G	2.37:g.159992709C>G			62	0	0		44	0.2	9	NM_033394	12	0.5	6	C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	CCDS42766.1																																																																																					0.483	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333135.1				G	159992709	C	G	159992709	2	3	17	1	0	0	0	0	0	0	0	1	15567	639	23	5		5	TANC1	2	159992709	Silent	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	61573757	159992709	83206664	9	1042											
IFIH1	64135	broad.mit.edu;mdanderson.org	37	chr2	163174366	163174366	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgaacagacacctaccCggtttctgtcttcaattgtc	9	13	6	13	1	4	2	1	1	3	1	5	2	4	2	2	1	2	1	2	1	3	4			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr2:163174366C>T	ENST00000263642.2	-	1	847	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	GCA_ENST00000429691.2_5'Flank|IFIH1_ENST00000421365.2_Splice_Site_p.R151Q	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	151	CARD 2.				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 interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GACACCTACCCGGTTTCTGTC	0.488																																					p.R151Q													.	IFIH1	102		0			c.G452A												270	301	290					2																	163174366		2203	4300	6503	SO:0001630	splice_region_variant	64135	exon1			CCTACCCGGTTTC	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.453+1G>A	2.37:g.163174366C>T			82	0	0		58	0.05	3	NM_022168	43	0.09	4	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Splice_Site	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076715	0.36662	.	.	ENSG00000115267	ENST00000263642;ENST00000543192;ENST00000421365	T;T	0.20881	2.04;2.04	5.26	3.43	0.39272	DEATH-like (2);Caspase Recruitment (1);	0.513127	0.19895	N	0.103648	T	0.34745	0.0908	L	0.57536	1.79	0.31081	N	0.71191	D;D	0.89917	1.0;0.996	D;P	0.74674	0.984;0.853	T	0.20538	-1.0272	10	0.19590	T	0.45	-11.0202	7.9507	0.30012	0.2867:0.6399:0.0:0.0734	.	151;151	Q9BYX4-2;Q9BYX4	.;IFIH1_HUMAN	Q	151	ENSP00000263642:R151Q;ENSP00000408450:R151Q	ENSP00000263642:R151Q	R	-	2	0	IFIH1	162882612	0.979000	0.34478	0.987000	0.45799	0.025000	0.11179	2.260000	0.43267	1.325000	0.45301	-0.169000	0.13324	CGG			0.488	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255078.2		NM_022168	Missense_Mutation	T	163174366	C	T	163174366	5	4	17	1	0	0	0	0	0	0	1	0	7535	666	23	1	2689	1	IFIH1	2	163174366	Splice_Site	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	3181657	163174366	80025007	10	1043											
RAPH1	65059	broad.mit.edu	37	chr2	204312708	204312708	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaagaactggatcccGatttaatgctggagctggat	10	11	13	7	1	0	1	0	0	0	1	1	6	1	5	1	4	4	3	1	4	3	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr2:204312708G>T	ENST00000319170.5	-	12	1906	c.1607C>A	c.(1606-1608)tCg>tAg	p.S536*	RAPH1_ENST00000419464.1_Nonsense_Mutation_p.S536*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.S588*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.S561*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.S563*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.S588*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.S588*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.S561*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.S536*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.S563*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.S536*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	536					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						ACTGGATCCCGATTTAATGCT	0.433																																					p.S588X													.	RAPH1	118		0			c.C1763A												109	98	102					2																	204312708		2203	4300	6503	SO:0001587	stop_gained	65059	exon14			GATCCCGATTTAA	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.1607C>A	2.37:g.204312708G>T	ENSP00000316543:p.Ser536*		132	0	0		127	0.02	3	NM_203365	15	0	0	Q96Q37|Q9C0I2	Nonsense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	36	5.930609	0.97116	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	.	.	.	5.57	5.57	0.84162	.	0.000000	0.45606	D	0.000345	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9901	19.542	0.95278	0.0:0.0:1.0:0.0	.	.	.	.	X	536;536;588;563;561;588;561;536;563;588;561;536;563	.	ENSP00000311293:S588X	S	-	2	0	RAPH1	204020953	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.807000	0.99171	2.628000	0.89032	0.650000	0.86243	TCG			0.433	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256363.2		NM_025252		T	204312708	G	T	204312708	4	4	17	1	0	0	0	0	0	1	0	0	13073	1059	37	1	2164	1	RAPH1	2	204312708	Nonsense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	41138342	204312708	38886665	11	1044											
TRIP12	9320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	230650472	230650472	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaccagactccaagctcaCctcattttcatactggattt	11	13	4	13	0	4	1	4	0	0	1	5	2	5	2	3	1	2	1	3	1	2	4			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr2:230650472C>T	ENST00000283943.5	-	33	5048		c.e33+1		TRIP12_ENST00000389045.3_Splice_Site|TRIP12_ENST00000389044.4_Splice_Site	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						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)			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)		TCCAAGCTCACCTCATTTTCA	0.453																																					.													.	.			0			c.4869+1G>A												116	116	116					2																	230650472		2203	4300	6503	SO:0001630	splice_region_variant	9320	exon34			AGCTCACCTCATT	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.4869+1G>A	2.37:g.230650472C>T			79	0	0		78	0.55	43	NM_004238	15	1	15	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Splice_Site	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367901	0.82463	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.66	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0404	0.80679	0.1346:0.8654:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIP12	230358716	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.405000	0.80007	2.661000	0.90470	0.585000	0.79938	.			0.453	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000331861.3		NM_004238	Intron	T	230650472	C	T	230650472	5	4	17	1	0	0	0	0	0	0	1	0	16580	521	18	3	1144	3	TRIP12	2	230650472	Splice_Site	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	26337764	230650472	12548901	12	1045											
EFHB	151651	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	19975292	19975292	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatattctgtctttctaaTcccatttcaagccccttgct	9	16	4	12	0	4	0	1	0	3	0	5	1	5	0	3	0	2	1	3	0	4	6			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr3:19975292T>A	ENST00000295824.9	-	1	380	c.219A>T	c.(217-219)ggA>ggT	p.G73G	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	73							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GTCTTTCTAATCCCATTTCAA	0.473																																					p.G73G													.	.			0			c.A219T												120	117	118					3																	19975292		1922	4138	6060	SO:0001819	synonymous_variant	151651	exon1			TTCTAATCCCATT	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.219A>T	3.37:g.19975292T>A			314	0	0		373	0.08	29	NM_144715	4	0	0	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	CCDS33715.2																																																																																					0.473	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318673.2		NM_144715		A	19975292	T	A	19975292	2	1	17	1	0	0	0	0	0	0	0	1	4950	1422	50	5		5	EFHB	3	19975292	Silent	SNP	T	TCGA-2G-AAFZ-01A-11D-A42Y-10		19975292	178047138	13	1046											
WNT5A	7474	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	55504144	55504144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcacacaaactggtccacGatctccgtgcacttcttgca	9	11	7	14	2	2	0	0	0	2	0	4	1	3	0	2	1	4	3	2	1	1	3			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr3:55504144G>A	ENST00000474267.1	-	6	1640	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	WNT5A_ENST00000497027.1_Silent_p.I358I|WNT5A_ENST00000493406.1_5'UTR|WNT5A_ENST00000264634.4_Silent_p.I373I			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	373					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|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 agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ACTGGTCCACGATCTCCGTGC	0.562																																					p.I373I													WNT5A,NS,carcinoma,0,1	WNT5A	0	1	0			c.C1119T												77	79	78					3																	55504144		2203	4300	6503	SO:0001819	synonymous_variant	7474	exon5			GTCCACGATCTCC	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1119C>T	3.37:g.55504144G>A			135	0	0		150	0.13	19	NM_003392	22	0.18	4	A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275958	0.23307	.	.	ENSG00000114251	ENST00000442038	.	.	.	5.68	-2.05	0.07321	.	.	.	.	.	T	0.59142	0.2172	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60276	-0.7295	5	0.87932	D	0	.	6.8217	0.23861	0.4519:0.0:0.4389:0.1092	.	.	.	.	C	106	.	ENSP00000395272:R106C	R	-	1	0	WNT5A	55479184	0.813000	0.29090	0.984000	0.44739	0.989000	0.77384	-0.124000	0.10595	-0.385000	0.07833	0.561000	0.74099	CGT			0.562	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350793.3		NM_003392		A	55504144	G	A	55504144	2	1	17	1	0	0	0	0	0	0	0	1	17415	1048	37	1		1	WNT5A	3	55504144	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	35528852	55504144	142518286	14	1047											
FLNB	2317	broad.mit.edu	37	chr3	58098020	58098020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattatgactactctcacaCggttaaatatacacccaccc	14	11	3	13	1	1	1	1	1	1	0	2	1	1	1	2	1	2	1	2	1	7	6			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr3:58098020C>T	ENST00000295956.4	+	18	2885	c.2720C>T	c.(2719-2721)aCg>aTg	p.T907M	FLNB_ENST00000419752.2_Missense_Mutation_p.T738M|FLNB_ENST00000429972.2_Missense_Mutation_p.T907M|FLNB_ENST00000490882.1_Missense_Mutation_p.T907M|FLNB_ENST00000493452.1_Missense_Mutation_p.T738M|FLNB_ENST00000358537.3_Missense_Mutation_p.T907M|FLNB_ENST00000348383.5_Missense_Mutation_p.T907M|FLNB_ENST00000357272.4_Missense_Mutation_p.T907M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	907					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TACTCTCACACGGTTAAATAT	0.557																																					p.T907M													.	FLNB	430		0			c.C2720T												97	94	95					3																	58098020		2203	4300	6503	SO:0001583	missense	2317	exon18			CTCACACGGTTAA	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2720C>T	3.37:g.58098020C>T	ENSP00000295956:p.Thr907Met		144	0	0		168	0.02	4	NM_001457	84	0.04	3	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925015	0.92319	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.54	5.54	0.83059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	M	0.90082	3.085	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	0.999;0.999;1.0;0.993;1.0;1.0	D	0.94828	0.7993	10	0.87932	D	0	.	19.4806	0.95008	0.0:1.0:0.0:0.0	.	907;907;738;738;907;907	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	M	907;907;907;907;907;907;738;738	ENSP00000295956:T907M;ENSP00000420213:T907M;ENSP00000351339:T907M;ENSP00000415599:T907M;ENSP00000232447:T907M;ENSP00000349819:T907M;ENSP00000418510:T738M;ENSP00000414532:T738M	ENSP00000295956:T907M	T	+	2	0	FLNB	58073060	1.000000	0.71417	0.971000	0.41717	0.946000	0.59487	7.815000	0.86186	2.622000	0.88805	0.650000	0.86243	ACG			0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000353569.1		NM_001457		T	58098020	C	T	58098020	3	4	17	1	0	0	0	0	1	0	0	0	5947	536	19	1	2790	1	FLNB	3	58098020	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	2593876	58098020	139924410	15	1048											
EPHA3	2042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	89480495	89480495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggatgacccagaagctGcttatacaacaagagtgagt	14	8	12	7	0	0	4	0	2	0	2	0	6	0	6	1	2	4	2	1	2	5	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr3:89480495G>C	ENST00000336596.2	+	13	2557	c.2332G>C	c.(2332-2334)Gct>Cct	p.A778P	EPHA3_ENST00000494014.1_Missense_Mutation_p.A778P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCCAGAAGCTGCTTATACAAC	0.403										TSP Lung(6;0.00050)																											p.A778P													.	.			0			c.G2332C												102	97	99					3																	89480495		2203	4300	6503	SO:0001583	missense	2042	exon13			GAAGCTGCTTATA	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2332G>C	3.37:g.89480495G>C	ENSP00000337451:p.Ala778Pro		163	0	0		116	0.47	54	NM_005233	51	0.53	27	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552970	0.86127	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.73575	-0.75;-0.76	5.33	5.33	0.75918	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	T	0.81380	0.4810	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79092	-0.1945	9	.	.	.	.	19.3726	0.94495	0.0:0.0:1.0:0.0	.	778	P29320	EPHA3_HUMAN	P	778	ENSP00000337451:A778P;ENSP00000419190:A778P	.	A	+	1	0	EPHA3	89563185	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.813000	0.99286	2.648000	0.89879	0.585000	0.79938	GCT			0.403	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352995.1		NM_005233		C	89480495	G	C	89480495	3	2	17	1	0	0	0	0	1	0	0	0	5175	1319	46	5	2408	5	EPHA3	3	89480495	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	31382475	89480495	108541935	16	1049											
ABTB1	80325	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	127395400	127395400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaccccgtggcctttgggGccctgctgcagtacctgtac	5	10	11	15	1	1	0	1	0	0	0	1	0	1	0	5	3	5	4	5	3	3	3			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr3:127395400G>A	ENST00000232744.8	+	6	588	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	ABTB1_ENST00000453791.2_Missense_Mutation_p.A26T|ABTB1_ENST00000393363.3_Missense_Mutation_p.A26T|ABTB1_ENST00000468137.1_Missense_Mutation_p.A26T					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGCCTTTGGGGCCCTGCTGCA	0.597																																					p.A168T													.	.			0			c.G502A												126	118	121					3																	127395400		2203	4300	6503	SO:0001583	missense	80325	exon6			TTTGGGGCCCTGC	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.502G>A	3.37:g.127395400G>A	ENSP00000232744:p.Ala168Thr		118	0	0		144	0.06	9	NM_172027	40	0.05	2		Missense_Mutation	SNP	ENST00000232744.8	37	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632410	0.67015	.	.	ENSG00000114626	ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	4.49	3.51	0.40186	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.181735	0.49305	D	0.000151	T	0.64114	0.2569	M	0.61703	1.905	0.44337	D	0.997221	P;P	0.50443	0.935;0.887	P;P	0.48368	0.575;0.544	T	0.61623	-0.7025	10	0.10111	T	0.7	-11.0735	11.2686	0.49124	0.0:0.0:0.6667:0.3332	.	168;143	Q969K4;Q969K4-3	ABTB1_HUMAN;.	T	26;168;26;26	ENSP00000377030:A26T;ENSP00000232744:A168T;ENSP00000412684:A26T;ENSP00000417366:A26T	ENSP00000232744:A168T	A	+	1	0	ABTB1	128878090	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.332000	0.59279	2.050000	0.60909	0.491000	0.48974	GCC			0.597	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356595.1		NM_172027		A	127395400	G	A	127395400	3	1	17	1	0	0	0	0	1	0	0	0	102	1203	42	2	524	2	ABTB1	3	127395400	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	37914905	127395400	70627030	17	1050											
SLC30A9	10463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	41992712	41992712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcccacagatgtagctGgtcctccctgtgccggctcc	4	8	12	17	3	0	1	0	0	0	1	3	1	3	1	5	3	2	3	5	3	1	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr4:41992712G>C	ENST00000264451.7	+	1	224	c.44G>C	c.(43-45)tGg>tCg	p.W15S	RP11-814H16.2_ENST00000608029.1_lincRNA	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	15					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATGTAGCTGGTCCTCCCTG	0.716																																					p.W15S													.	.			0			c.G44C												21	21	21					4																	41992712		2191	4289	6480	SO:0001583	missense	10463	exon1			GTAGCTGGTCCTC	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.44G>C	4.37:g.41992712G>C	ENSP00000264451:p.Trp15Ser		80	0	0		67	0.49	33	NM_006345	40	0.63	25	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571384	0.28003	.	.	ENSG00000014824	ENST00000264451	T	0.29917	1.55	4.67	4.67	0.58626	.	0.063086	0.64402	D	0.000002	T	0.28034	0.0691	L	0.46157	1.445	0.58432	D	0.999997	B	0.30482	0.281	B	0.27170	0.077	T	0.13282	-1.0515	10	0.87932	D	0	-0.0274	12.9446	0.58365	0.0:0.0:1.0:0.0	.	15	Q6PML9	ZNT9_HUMAN	S	15	ENSP00000264451:W15S	ENSP00000264451:W15S	W	+	2	0	SLC30A9	41687469	1.000000	0.71417	0.995000	0.50966	0.018000	0.09664	3.866000	0.56040	2.428000	0.82296	0.561000	0.74099	TGG			0.716	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216842.3				C	41992712	G	C	41992712	3	2	17	1	0	0	0	0	1	0	0	0	14585	1357	47	5	46	5	SLC30A9	4	41992712	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10		41992712	149161564	18	1051											
LIN54	132660	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	83867529	83867529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccaggcacttgaatCtgctggacattgggagcagt	8	12	12	9	0	1	1	0	1	1	0	2	3	2	3	1	3	3	4	1	3	1	4			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr4:83867529C>A	ENST00000340417.3	-	5	1427	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	LIN54_ENST00000395282.2_3'UTR|snoR442_ENST00000517025.1_RNA|Y_RNA_ENST00000362660.1_RNA|LIN54_ENST00000510557.1_Missense_Mutation_p.Q129H|LIN54_ENST00000442461.2_Missense_Mutation_p.Q129H|LIN54_ENST00000505397.1_Missense_Mutation_p.Q350H|LIN54_ENST00000506560.1_Missense_Mutation_p.Q261H|LIN54_ENST00000395283.2_Missense_Mutation_p.Q261H|LIN54_ENST00000446851.2_Missense_Mutation_p.Q129H	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	350					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)				GCACTTGAATCTGCTGGACAT	0.468																																					p.Q350H													.	LIN54	50		0			c.G1050T												198	178	185					4																	83867529		2203	4300	6503	SO:0001583	missense	132660	exon5			TTGAATCTGCTGG	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.1050G>T	4.37:g.83867529C>A	ENSP00000341947:p.Gln350His		197	0	0		170	0.05	8	NM_194282	15	0	0	Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362299	0.82353	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	6.01	5.17	0.71159	.	0.057598	0.64402	D	0.000001	T	0.67011	0.2848	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.998;0.99;0.995	D;D;D	0.72982	0.935;0.979;0.936	T	0.71474	-0.4582	9	0.72032	D	0.01	-2.4211	17.5339	0.87822	0.0:0.8764:0.1236:0.0	.	261;222;350	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	H	350;261;129;129;129;261;350	.	ENSP00000341947:Q350H	Q	-	3	2	LIN54	84086553	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.361000	0.44160	1.531000	0.49152	0.655000	0.94253	CAG			0.468	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252626.2		NM_194282		A	83867529	C	A	83867529	3	1	17	1	0	0	0	0	1	0	0	0	8824	912	32	3	1235	3	LIN54	4	83867529	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	41874817	83867529	107286747	19	1052											
ODZ3	55714	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	183600887	183600887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcggagcctgcttgagacGgagagagccgggcggcaggc	8	3	19	11	4	0	2	0	1	0	2	0	6	0	4	2	5	4	2	2	5	0	1	rs553919743		TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr4:183600887G>A	ENST00000511685.1	+	8	1518	c.1395G>A	c.(1393-1395)acG>acA	p.T465T	TENM3_ENST00000406950.2_Silent_p.T465T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	465					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGCTTGAGACGGAGAGAGCCG	0.547													G|||	1	0.000199681	0	0	5008	,	,		14860	0		0.001	False		,,,				2504	0				p.T465T													.	.			0			c.G1395A												52	57	56					4																	183600887		1896	4103	5999	SO:0001819	synonymous_variant	55714	exon7			TGAGACGGAGAGA	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1395G>A	4.37:g.183600887G>A			151	0.0066225166	1		113	0.11	12	NM_001080477	12	0	0	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																					0.547	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361734.1				A	183600887	G	A	183600887	2	1	17	1	0	0	0	0	0	0	0	1	10853	1103	39	1		1	ODZ3	4	183600887	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	99733358	183600887	7553389	20	1053											
ADAMTS2	9509	mdanderson.org	37	chr5	178564853	178564853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcggcactgctcctcgCggaagtcagccagggagtcg	7	6	15	13	4	1	0	1	0	0	0	4	2	2	2	2	4	2	2	2	4	1	0			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr5:178564853C>T	ENST00000251582.7	-	12	1969	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	623	Cys-rich.				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)		CTGCTCCTCGCGGAAGTCAGC	0.701																																					p.R623H													.	.			0			c.G1868A												16	17	17					5																	178564853		2174	4283	6457	SO:0001583	missense	9509	exon12			TCCTCGCGGAAGT	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.1868G>A	5.37:g.178564853C>T	ENSP00000251582:p.Arg623His		40	0	0		40	0.08	3	NM_014244	17	0	0		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541267	0.96474	.	.	ENSG00000087116	ENST00000251582	T	0.68181	-0.31	5.62	5.62	0.85841	.	0.000000	0.49916	D	0.000133	D	0.89619	0.6767	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93099	0.6507	10	0.87932	D	0	.	19.0118	0.92875	0.0:1.0:0.0:0.0	.	623	O95450	ATS2_HUMAN	H	623	ENSP00000251582:R623H	ENSP00000251582:R623H	R	-	2	0	ADAMTS2	178497459	1.000000	0.71417	0.972000	0.41901	0.946000	0.59487	7.338000	0.79269	2.813000	0.96785	0.561000	0.74099	CGC			0.701	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253507.1		NM_014244		T	178564853	C	T	178564853	3	4	17	1	0	0	0	0	1	0	0	0	265	768	27	1	1811	1	ADAMTS2	5	178564853	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10		178564853	2350407	21	1054											
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	12125357	12125357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtttgtgcaacagacGtgagacctttagaggctttg	9	12	13	7	1	0	3	0	1	0	3	0	5	0	3	1	1	3	4	1	1	2	4			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr6:12125357G>A	ENST00000379388.2	+	4	5661	c.5329G>A	c.(5329-5331)Gtg>Atg	p.V1777M	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1777					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)				TGCAACAGACGTGAGACCTTT	0.448																																					p.V1777M													.	.			0			c.G5329A												117	115	115					6																	12125357		1877	4108	5985	SO:0001583	missense	3096	exon4			ACAGACGTGAGAC	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.5329G>A	6.37:g.12125357G>A	ENSP00000368698:p.Val1777Met		160	0	0		155	0.1	16	NM_002114	17	0.12	2	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	4.801	0.149000	0.09185	.	.	ENSG00000095951	ENST00000379388	T	0.10005	2.92	5.62	-1.74	0.08056	.	1.406770	0.05631	N	0.581813	T	0.02688	0.0081	L	0.39898	1.24	0.09310	N	1	P	0.48998	0.918	B	0.39738	0.308	T	0.38265	-0.9669	9	.	.	.	0.246	5.0391	0.14449	0.4278:0.0:0.3509:0.2213	.	1777	P15822	ZEP1_HUMAN	M	1777	ENSP00000368698:V1777M	.	V	+	1	0	HIVEP1	12233343	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.308000	0.19314	-0.318000	0.08665	-0.150000	0.13652	GTG			0.448	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039870.2		NM_002114		A	12125357	G	A	12125357	3	1	17	1	0	0	0	0	1	0	0	0	7201	1145	40	1	5339	1	HIVEP1	6	12125357	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10		12125357	158989710	22	1055											
LY6G5B	58496	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	31639021	31639021	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctcagagaagtgtaccatCagcagctcatccctgtgcat	10	9	10	12	0	3	1	3	0	0	1	4	2	4	1	2	1	4	5	2	1	2	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr6:31639021C>G	ENST00000375864.4	+	2	931	c.147C>G	c.(145-147)atC>atG	p.I49M	LY6G5B_ENST00000409525.1_5'UTR|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.Q216E	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	49	UPAR/Ly6.					extracellular region (GO:0005576)				lung(4)	4						AGTGTACCATCAGCAGCTCAT	0.547																																					p.I49M													.	.			0			c.C147G												242	236	238					6																	31639021		1510	2709	4219	SO:0001583	missense	58496	exon2			TACCATCAGCAGC	AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"chromosome 6 open reading frame 19"	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.147C>G	6.37:g.31639021C>G	ENSP00000365024:p.Ile49Met		215	0	0		182	0.05	9	NM_021221	11	0.09	1	B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	ENST00000375864.4	37	CCDS34400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.26|15.26	2.779485|2.779485	0.49891|0.49891	.|.	.|.	ENSG00000240053|ENSG00000204435	ENST00000409691;ENST00000375864|ENST00000375880	T|.	0.26373|.	1.74|.	4.44|4.44	-2.25|-2.25	0.06888|0.06888	.|.	.|.	.|.	.|.	.|.	T|T	0.09555|0.09555	0.0235|0.0235	L|L	0.29908|0.29908	0.895|0.895	.|.	.|.	.|.	D|B	0.71674|0.13145	0.998|0.007	D|B	0.70935|0.12156	0.971|0.007	T|T	0.25293|0.25293	-1.0136|-1.0136	8|7	0.62326|0.36615	D|T	0.03|0.2	-4.4321|-4.4321	3.1402|3.1402	0.06453|0.06453	0.3027:0.3267:0.0:0.3705|0.3027:0.3267:0.0:0.3705	.|.	49|216	Q8NDX9|Q5SRQ3	LY65B_HUMAN|.	M|E	46;49|216	ENSP00000365024:I49M|.	ENSP00000365024:I49M|ENSP00000365040:Q216E	I|Q	+|+	3|1	3|0	LY6G5B|CSNK2B	31747000|31747000	0.000000|0.000000	0.05858|0.05858	0.037000|0.037000	0.18230|0.18230	0.972000|0.972000	0.66771|0.66771	-0.320000|-0.320000	0.08028|0.08028	-0.251000|-0.251000	0.09542|0.09542	-0.291000|-0.291000	0.09656|0.09656	ATC|CAG			0.547	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000124389.4				G	31639021	C	G	31639021	3	3	17	1	0	0	0	0	1	0	0	0	9108	816	29	5	153	5	LY6G5B	6	31639021	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	19513664	31639021	139476046	23	1056											
FRS3	10817	mdanderson.org	37	chr6	41739127	41739127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaaacttcacctggcctgGctgcaagaacacctgtgggt	10	8	10	13	0	1	1	1	0	0	1	1	1	1	1	3	3	3	2	3	3	3	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr6:41739127G>T	ENST00000373018.3	-	7	960	c.709C>A	c.(709-711)Cca>Aca	p.P237T	FRS3_ENST00000259748.2_Missense_Mutation_p.P237T	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	237					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)			ACCTGGCCTGGCTGCAAGAAC	0.682																																					p.P237T													.	.			0			c.C709A												47	52	50					6																	41739127		2203	4300	6503	SO:0001583	missense	10817	exon7			GGCCTGGCTGCAA	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.709C>A	6.37:g.41739127G>T	ENSP00000362109:p.Pro237Thr		54	0	0		47	0.06	3	NM_006653	9	0	0	Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862399	0.51482	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.31510	1.49;1.49	5.58	5.58	0.84498	.	0.105917	0.64402	D	0.000003	T	0.28732	0.0712	M	0.68593	2.085	0.58432	D	0.999995	P	0.48503	0.911	B	0.42282	0.382	T	0.20874	-1.0262	10	0.72032	D	0.01	-27.5126	19.175	0.93600	0.0:0.0:1.0:0.0	.	237	O43559	FRS3_HUMAN	T	237	ENSP00000362109:P237T;ENSP00000259748:P237T	ENSP00000259748:P237T	P	-	1	0	FRS3	41847105	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	7.611000	0.82962	2.642000	0.89623	0.655000	0.94253	CCA			0.682	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040532.2		NM_006653		T	41739127	G	T	41739127	3	4	17	1	0	0	0	0	1	0	0	0	6075	1203	42	2	773	2	FRS3	6	41739127	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	10100106	41739127	129375940	24	1057											
TDRD6	221400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	46659709	46659709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcagagagaaaaataGgagattcatgtgacaaagat	17	10	9	5	0	3	5	2	1	1	4	3	7	3	5	0	1	0	0	0	1	4	3			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr6:46659709G>A	ENST00000316081.6	+	1	3844	c.3844G>A	c.(3844-3846)Gga>Aga	p.G1282R	TDRD6_ENST00000544460.1_Missense_Mutation_p.G1282R	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1282					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)			GAGAAAAATAGGAGATTCATG	0.343																																					p.G1282R													.	.			0			c.G3844A												41	47	45					6																	46659709		2201	4297	6498	SO:0001583	missense	221400	exon1			AAAATAGGAGATT	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.3844G>A	6.37:g.46659709G>A	ENSP00000346065:p.Gly1282Arg		227	0	0		172	0.19	32	NM_001168359	0		0	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387186	0.11581	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14640	2.49;2.49	4.57	3.7	0.42460	.	0.748754	0.12975	N	0.423745	T	0.02610	0.0079	N	0.16478	0.41	0.27191	N	0.960416	B;B	0.18461	0.028;0.008	B;B	0.14023	0.01;0.003	T	0.41034	-0.9531	10	0.13853	T	0.58	-1.6654	12.0314	0.53399	0.0817:0.0:0.9183:0.0	.	1282;1282	F5H5M3;O60522	.;TDRD6_HUMAN	R	1282	ENSP00000443299:G1282R;ENSP00000346065:G1282R	ENSP00000346065:G1282R	G	+	1	0	TDRD6	46767668	0.091000	0.21658	0.521000	0.27850	0.873000	0.50193	1.520000	0.35899	1.530000	0.49136	0.655000	0.94253	GGA			0.343	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040800.1		XM_166443		A	46659709	G	A	46659709	3	1	17	1	0	0	0	0	1	0	0	0	15757	1001	35	3	3846	3	TDRD6	6	46659709	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	4920582	46659709	124455358	25	1058											
KIAA0415	9907	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	4830438	4830438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccctctgctgccctgccCaggtgtcccccccaggtggt	2	8	11	20	1	1	0	0	0	1	0	2	0	2	0	7	3	3	1	7	3	0	0			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr7:4830438C>T	ENST00000348624.4	+	16	2167	c.2073C>T	c.(2071-2073)ccC>ccT	p.P691P	AP5Z1_ENST00000490487.1_Intron|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	691					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)											CTGCCCTGCCCAGGTGTCCCC	0.642																																					p.P691P													.	.			0			c.C2073T												30	35	33					7																	4830438		2031	4176	6207	SO:0001819	synonymous_variant	9907	exon16			CCTGCCCAGGTGT	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.2073C>T	7.37:g.4830438C>T			36	0	0		56	0.21	12	NM_014855	117	0.21	25	Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	CCDS47528.1																																																																																					0.642	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323771.1				T	4830438	C	T	4830438	2	4	17	1	0	0	0	0	0	0	0	1	8190	581	21	3		3	KIAA0415	7	4830438	Silent	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10		4830438	154308225	26	1059											
NUDCD3	23386	mdanderson.org	37	chr7	44530025	44530025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcagcaccaaggcctGcgcggccccgggcgggaagc	7	2	15	17	4	0	0	0	0	0	0	0	1	0	1	5	4	4	2	5	4	2	0			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr7:44530025G>T	ENST00000355451.7	-	1	454	c.175C>A	c.(175-177)Cag>Aag	p.Q59K		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	59										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						ACCAAGGCCTGCGCGGCCCCG	0.706																																					p.Q59K													.	.			0			c.C175A												10	14	13					7																	44530025		1852	4080	5932	SO:0001583	missense	23386	exon1			AGGCCTGCGCGGC	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.175C>A	7.37:g.44530025G>T	ENSP00000347626:p.Gln59Lys		19	0	0		28	0.11	3	NM_015332	149	0	0	Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	g	15.31	2.796196	0.50208	.	.	ENSG00000015676	ENST00000355451	T	0.52754	0.65	4.16	4.16	0.48862	.	0.065673	0.64402	D	0.000010	T	0.27454	0.0674	N	0.03194	-0.395	0.39829	D	0.972943	P	0.42757	0.789	B	0.44224	0.444	T	0.12066	-1.0562	10	0.16420	T	0.52	-5.0596	13.6244	0.62155	0.0:0.0:1.0:0.0	.	59	Q8IVD9	NUDC3_HUMAN	K	59	ENSP00000347626:Q59K	ENSP00000347626:Q59K	Q	-	1	0	NUDCD3	44496550	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.685000	0.61693	2.287000	0.76781	0.558000	0.71614	CAG			0.706	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251248.3		NM_015332		T	44530025	G	T	44530025	3	4	17	1	0	0	0	0	1	0	0	0	10741	1328	46	2	934	2	NUDCD3	7	44530025	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	39699587	44530025	114608638	27	1060											
VGF	7425	mdanderson.org	37	chr7	100807777	100807777	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctggctgcgcacggtctcGgtcagcagagcttcagctgc	5	9	14	13	3	4	1	2	0	2	1	5	1	4	1	0	3	5	5	0	3	0	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr7:100807777G>T	ENST00000249330.2	-	2	587	c.348C>A	c.(346-348)acC>acA	p.T116T	VGF_ENST00000445482.2_Silent_p.T116T	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	116					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCACGGTCTCGGTCAGCAGAG	0.736																																					p.T116T													.	.			0			c.C348A												8	10	9					7																	100807777		2101	4115	6216	SO:0001819	synonymous_variant	7425	exon2			GGTCTCGGTCAGC	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"neuro-endocrine specific protein VGF"	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.348C>A	7.37:g.100807777G>T			15	0	0		25	0.12	3	NM_003378	10	0	0	Q9UDW8	Silent	SNP	ENST00000249330.2	37	CCDS5712.1																																																																																					0.736	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347462.1		NM_003378		T	100807777	G	T	100807777	2	4	17	1	0	0	0	0	0	0	0	1	17181	1103	39	1		1	VGF	7	100807777	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	56277752	100807777	58330886	28	1061											
CALU	813	bcgsc.ca;mdanderson.org	37	chr7	128409204	128409204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttggggaggccttagtaCggcatgatgagttctgagct	8	13	14	6	1	1	3	0	3	1	0	1	4	1	4	1	4	2	4	1	4	2	5			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr7:128409204C>T	ENST00000249364.4	+	7	1033	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	CALU_ENST00000535011.2_3'UTR|CALU_ENST00000538546.1_Missense_Mutation_p.R160W|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Missense_Mutation_p.R319W|CALU_ENST00000449187.2_Missense_Mutation_p.R311W|CALU_ENST00000542996.2_Missense_Mutation_p.R319W	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	311					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GGCCTTAGTACGGCATGATGA	0.438																																					p.R319W													.	CALU	42		0			c.C955T												110	94	100					7																	128409204		2203	4300	6503	SO:0001583	missense	813	exon8			TTAGTACGGCATG	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.931C>T	7.37:g.128409204C>T	ENSP00000249364:p.Arg311Trp		85	0	0		107	0.05	5	NM_001199671	509	0	0	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.48|19.48	3.834949|3.834949	0.71373|0.71373	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000542996;ENST00000538394;ENST00000537667;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000342367;ENST00000479257|ENST00000493278	T;T;T;T;T|.	0.32023|.	2.61;1.47;2.61;2.62;2.6|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.065682|.	0.64402|.	D|.	0.000008|.	T|T	0.80969|0.80969	0.4726|0.4726	M|M	0.92317|0.92317	3.295|3.295	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.74674|.	0.984;0.983|.	D|D	0.84984|0.84984	0.0890|0.0890	10|5	0.59425|.	D|.	0.04|.	-2.2772|-2.2772	11.2273|11.2273	0.48890|0.48890	0.1831:0.8169:0.0:0.0|0.1831:0.8169:0.0:0.0	.|.	319;311|.	D6QS48;O43852|.	.;CALU_HUMAN|.	W|M	319;261;197;160;311;311;150;319|142	ENSP00000438248:R319W;ENSP00000438994:R160W;ENSP00000249364:R311W;ENSP00000408838:R311W;ENSP00000420381:R319W|.	ENSP00000249364:R311W|.	R|T	+|+	1|2	2|0	CALU|CALU	128196440|128196440	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.763000|1.763000	0.38461|0.38461	2.387000|2.387000	0.81309|0.81309	0.563000|0.563000	0.77884|0.77884	CGG|ACG			0.438	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350533.1		NM_001219		T	128409204	C	T	128409204	3	4	17	1	0	0	0	0	1	0	0	0	2596	527	19	1	1151	1	CALU	7	128409204	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	27601427	128409204	30729459	29	1062											
GSDMD	79792	mdanderson.org	37	chr8	144644256	144644256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctggagggcctggaGggggtgctgcgggaccagct	4	7	20	10	1	0	0	0	0	0	0	0	3	0	3	2	6	5	4	2	6	0	0			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr8:144644256G>T	ENST00000526406.1	+	11	1834	c.951G>T	c.(949-951)gaG>gaT	p.E317D	GSDMD_ENST00000533063.1_Missense_Mutation_p.E365D|GSDMD_ENST00000262580.4_Missense_Mutation_p.E317D	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	317					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGGGCCTGGAGGGGGTGCTGC	0.672																																					p.E317D													.	.			0			c.G951T												33	38	36					8																	144644256		2201	4299	6500	SO:0001583	missense	79792	exon11			CCTGGAGGGGGTG	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.951G>T	8.37:g.144644256G>T	ENSP00000433209:p.Glu317Asp		13	0.0769230769	1		29	0.1	3	NM_001166237	33	0	0	D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	CCDS34956.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.090|5.090	0.202211|0.202211	0.09652|0.09652	.|.	.|.	ENSG00000104518|ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580|ENST00000525208	T;T;T|.	0.22945|.	1.93;1.93;1.93|.	4.39|4.39	-7.74|-7.74	0.01241|0.01241	.|.	1.598880|.	0.03149|.	N|.	0.167759|.	T|T	0.30665|0.30665	0.0772|0.0772	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;P;P|.	0.43287|.	0.002;0.802;0.764|.	B;B;B|.	0.36418|.	0.005;0.222;0.224|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|5	0.13470|.	T|.	0.59|.	-10.522|-10.522	4.6573|4.6573	0.12624|0.12624	0.1469:0.4989:0.1525:0.2017|0.1469:0.4989:0.1525:0.2017	.|.	317;317;365|.	A8K702;P57764;G3V1A6|.	.;GSDMD_HUMAN;.|.	D|W	317;365;317|13	ENSP00000433209:E317D;ENSP00000433958:E365D;ENSP00000262580:E317D|.	ENSP00000262580:E317D|.	E|G	+|+	3|1	2|0	GSDMD|GSDMD	144715399|144715399	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.420000|-0.420000	0.07062|0.07062	-1.839000|-1.839000	0.01186|0.01186	-1.127000|-1.127000	0.01993|0.01993	GAG|GGG			0.672	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382046.3		NM_024736		T	144644256	G	T	144644256	3	4	17	1	0	0	0	0	1	0	0	0	6834	991	35	3	977	3	GSDMD	8	144644256	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10		144644256	1719766	30	1063											
OPLAH	26873	mdanderson.org	37	chr8	145113441	145113441	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagaagccctgcacgtaGcgctggatggcgggcgtgag	7	5	18	11	5	0	2	0	1	0	1	0	3	0	3	1	4	3	4	1	4	2	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr8:145113441G>T	ENST00000426825.1	-	6	822	c.741C>A	c.(739-741)cgC>cgA	p.R247R	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	247					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)			CCTGCACGTAGCGCTGGATGG	0.697																																					p.R247R													.	.			0			c.C741A												31	37	35					8																	145113441		2137	4229	6366	SO:0001819	synonymous_variant	26873	exon6			CACGTAGCGCTGG	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.741C>A	8.37:g.145113441G>T			22	0	0		18	0.17	3	NM_017570	12	0	0	A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37																																																																																						0.697	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_017570		T	145113441	G	T	145113441	2	4	17	1	0	0	0	0	0	0	0	1	10893	958	34	2		2	OPLAH	8	145113441	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	469185	145113441	1250581	31	1064											
ARHGAP39	80728	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	145806589	145806590	+	Frame_Shift_Ins	INS	-	-	CACTCACC																															cggccggcgggtcccacacgINScactcaccggtgaccaggtt																										TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr8:145806589_145806590insCACTCACC	ENST00000276826.5	-	2	353_354	c.152_153insGGTGAGTG	c.(151-153)tgcfs	p.C51fs	CTD-2517M22.9_ENST00000529377.1_RNA|ARHGAP39_ENST00000540274.1_Frame_Shift_Ins_p.C51fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Ins_p.C51fs			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	51	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGTCCCACACGCACTCACCGGT	0.644																																					p.C51fs													.	ARHGAP39	80		0			c.153_154insGGTGAGTG																																									SO:0001589	frameshift_variant	80728	exon4			CCACACGCACTCA		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.145_152dupGGTGAGTG	8.37:g.145806590_145806597dupCACTCACC	ENSP00000276826:p.Cys51fs		160	0	0		210	0.09	18	NM_025251	18	0	0	B4E1I1	Frame_Shift_Ins	INS	ENST00000276826.5	37																																																																																						0.644	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382509.1				CACTCACC	145806590	-	CACTCACC	145806589	7	5	17	1	0	1	1	0	0	0	0	0	884	1079	38	0	3231	0	ARHGAP39	8	145806589	Frame_Shift_Ins	INS	-	TCGA-2G-AAFZ-01A-11D-A42Y-10	693148	145806589	557433	32	1065											
SHOC2	8036	mdanderson.org	37	chr10	112724386	112724386	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccagcaatgcagaggtGattaaagagctcaacaaatg	18	7	9	7	0	1	3	1	1	0	2	2	3	2	3	1	1	4	3	1	1	6	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr10:112724386G>T	ENST00000369452.4	+	2	615	c.270G>T	c.(268-270)gtG>gtT	p.V90V	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.V90V	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	90					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ATGCAGAGGTGATTAAAGAGC	0.448																																					p.V90V													.	.			0			c.G270T												79	77	77					10																	112724386		2203	4299	6502	SO:0001819	synonymous_variant	8036	exon1			AGAGGTGATTAAA	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.270G>T	10.37:g.112724386G>T			159	0	0		118	0.04	5	NM_001269039	30	0	0	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	CCDS7568.1																																																																																					0.448	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050355.1		NM_007373		T	112724386	G	T	112724386	2	4	17	1	0	0	0	0	0	0	0	1	14310	1277	45	3		3	SHOC2	10	112724386	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10		112724386	22810361	33	1066											
AHNAK	79026	hgsc.bcm.edu	37	chr11	62294188	62294188	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttcatctctggcatcttTaacttaggccctttcaactt	8	17	5	11	0	4	0	2	0	2	0	5	0	4	0	1	2	2	2	1	2	3	6			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr11:62294188T>G	ENST00000378024.4	-	5	7975	c.7701A>C	c.(7699-7701)ttA>ttC	p.L2567F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2567					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)				CTGGCATCTTTAACTTAGGCC	0.478																																					p.L2567F													AHNAK,mucosal,malignant_melanoma,0,2	AHNAK	0	2	0			c.A7701C												185	187	186					11																	62294188		2202	4299	6501	SO:0001583	missense	79026	exon5			CATCTTTAACTTA	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.7701A>C	11.37:g.62294188T>G	ENSP00000367263:p.Leu2567Phe		214	0	0		154	0.05	8	NM_001620	94	0	0	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	0.043	-1.275286	0.01410	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.02763	4.17	4.42	-0.957	0.10350	.	.	.	.	.	T	0.00552	0.0018	N	0.00067	-2.295	0.23232	N	0.998077	B	0.02656	0.0	B	0.01281	0.0	T	0.44483	-0.9325	9	0.02654	T	1	-7.7106	5.4338	0.16469	0.4598:0.0:0.4101:0.1302	.	2567	Q09666	AHNK_HUMAN	F	656;2567	ENSP00000367263:L2567F	ENSP00000244934:L656F	L	-	3	2	AHNAK	62050764	0.000000	0.05858	0.777000	0.31699	0.757000	0.42996	-4.448000	0.00232	-0.565000	0.06061	-0.361000	0.07541	TTA			0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395572.1		NM_024060		G	62294188	T	G	62294188	3	3	17	1	0	0	0	0	1	0	0	0	414	1751	61	4	10091	4	AHNAK	11	62294188	Missense_Mutation	SNP	T	TCGA-2G-AAFZ-01A-11D-A42Y-10		62294188	72712328	34	1067											
HTR3B	9177	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	113775694	113775694	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcccctgtgggcctgcatCctggtggctgcaggtgagtc	3	10	15	13	0	0	1	0	1	0	0	3	1	2	1	4	4	2	4	4	4	0	0			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr11:113775694C>A	ENST00000260191.2	+	1	296	c.39C>A	c.(37-39)atC>atA	p.I13I		NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	13					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)	GGGCCTGCATCCTGGTGGCTG	0.438																																					p.I13I													.	HTR3B	50		0			c.C39A												103	94	97					11																	113775694		2201	4296	6497	SO:0001819	synonymous_variant	9177	exon1			CTGCATCCTGGTG	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.39C>A	11.37:g.113775694C>A			122	0.0081967213	1		77	0.43	33	NM_006028	0		0	B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	CCDS8364.1																																																																																					0.438	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398842.1		NM_006028		A	113775694	C	A	113775694	2	1	17	1	0	0	0	0	0	0	0	1	7460	845	30	3		3	HTR3B	11	113775694	Silent	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	51481506	113775694	21230822	35	1068											
OR10G9	219870	mdanderson.org	37	chr11	123894601	123894601	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgagaaacaaggaggtGaagaaagctgtgttgaaact	16	7	12	6	0	0	4	0	3	0	2	0	6	0	5	1	2	3	2	1	2	5	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr11:123894601G>T	ENST00000375024.1	+	1	882	c.882G>T	c.(880-882)gtG>gtT	p.V294V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	294						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		ACAAGGAGGTGAAGAAAGCTG	0.428																																					p.V294V													.	.			0			c.G882T												103	98	100					11																	123894601		2201	4299	6500	SO:0001819	synonymous_variant	219870	exon1			GGAGGTGAAGAAA	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.882G>T	11.37:g.123894601G>T			98	0	0		30	0.1	3	NM_001001953	0		0		Silent	SNP	ENST00000375024.1	37	CCDS31703.1																																																																																					0.428	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387269.1		NM_001001953		T	123894601	G	T	123894601	2	4	17	1	0	0	0	0	0	0	0	1	10921	1277	45	3		3	OR10G9	11	123894601	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	10118907	123894601	11111915	36	1069											
WBP11	51729	broad.mit.edu	37	chr12	14947586	14947586	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtggaccagggggAgggccaggaggttttctgcc	7	6	21	7	0	1	0	0	0	1	0	1	5	1	5	3	9	1	1	3	9	0	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr12:14947586A>G	ENST00000261167.2	-	7	839	c.606T>C	c.(604-606)ccT>ccC	p.P202P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	202	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GACCAGGGGGAGGGCCAGGAG	0.512																																					p.P202P													WBP11,right_lower_lobe,carcinoma,0,2	WBP11	66	2	0			c.T606C												100	107	105					12																	14947586		2203	4300	6503	SO:0001819	synonymous_variant	51729	exon7			AGGGGGAGGGCCA	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.606T>C	12.37:g.14947586A>G			220	0.0090909091	2		588	0.02	9	NM_016312	566	0	1	Q96AY8	Silent	SNP	ENST00000261167.2	37	CCDS8666.1																																																																																					0.512	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400850.1		NM_016312		G	14947586	A	G	14947586	2	3	17	1	0	0	0	0	0	0	0	1	17282	291	11	4		4	WBP11	12	14947586	Silent	SNP	A	TCGA-2G-AAFZ-01A-11D-A42Y-10		14947586	118904309	37	1070											
SPRYD3	84926	broad.mit.edu	37	chr12	53471008	53471009	+	Missense_Mutation	DNP	GC	GC	AG																															ccaattcagaaaccggtagtGcaggttgaggtcatccatct																										TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr12:53471008_53471009GC>AG	ENST00000301463.4	-	2	146_147	c.60_61GC>CT	c.(58-63)ctGCac>ctCTac	p.H21Y	SPRYD3_ENST00000547837.1_Missense_Mutation_p.H58Y	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	21	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AACCGGTAGTGCAGGTTGAGGT	0.525																																					p.H58Y													.	SPRYD3	29		0			c.G60C																																									SO:0001583	missense	84926	exon2			GGTAGTGCAGGTT	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.60_61delinsAG	12.37:g.53471008_53471009delinsAG	ENSP00000301463:p.His21Tyr		106	0	0		110	0.04	4	NM_032840	64	0	0	B9EG99|Q96SK5	Missense_Mutation	DNP	ENST00000301463.4	37	CCDS8845.1																																																																																					0.525	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407264.1		NM_032840		AG	53471009	GC	AG	53471008	3	1	17	1	0	0	0	0	1	0	0	0	15132	1319	46	2	1307	2	SPRYD3	12	53471008	Missense_Mutation	DNP	GC	TCGA-2G-AAFZ-01A-11D-A42Y-10	38523422	53471008	80380887	38	1071											
PPFIA2	8499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	81760903	81760903	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccttatcatgtaaagatTcttcaagattctttctgaaa	14	16	4	7	0	5	3	2	1	3	2	5	3	5	3	1	0	1	1	1	0	6	7			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr12:81760903T>A	ENST00000549396.1	-	14	1689	c.1529A>T	c.(1528-1530)gAa>gTa	p.E510V	PPFIA2_ENST00000541570.2_Missense_Mutation_p.E77V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E411V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E510V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E492V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E436V|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E510V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E510V|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E492V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E357V	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	510	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGTAAAGATTCTTCAAGATT	0.224																																					p.E510V													PPFIA2,NS,carcinoma,-1,1	PPFIA2	-1	1	0			c.A1529T												25	24	24					12																	81760903		1457	3310	4767	SO:0001583	missense	8499	exon13			AAAGATTCTTCAA	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1529A>T	12.37:g.81760903T>A	ENSP00000450337:p.Glu510Val		495	0	0		501	0.21	107	NM_001220476	0		0	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603018	0.66445	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.41	5.41	0.78517	.	0.119241	0.56097	D	0.000030	T	0.44705	0.1306	M	0.69523	2.12	0.80722	D	1	B	0.30482	0.281	B	0.24848	0.056	T	0.49133	-0.8971	10	0.87932	D	0	-19.9813	15.742	0.77905	0.0:0.0:0.0:1.0	.	510	O75334	LIPA2_HUMAN	V	510;492;77;436;521;492;510;411;510;91;77	ENSP00000450337:E510V;ENSP00000450298:E492V;ENSP00000438337:E77V;ENSP00000385093:E436V;ENSP00000327416:E492V;ENSP00000449338:E510V;ENSP00000388373:E411V;ENSP00000447868:E510V;ENSP00000448941:E91V	ENSP00000327416:E492V	E	-	2	0	PPFIA2	80285034	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.401000	0.79962	2.185000	0.69588	0.519000	0.50382	GAA			0.224	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408030.1				A	81760903	T	A	81760903	3	1	17	1	0	0	0	0	1	0	0	0	12327	1783	62	5	2320	5	PPFIA2	12	81760903	Missense_Mutation	SNP	T	TCGA-2G-AAFZ-01A-11D-A42Y-10	28289895	81760903	52090992	39	1072											
CIT	11113	mdanderson.org	37	chr12	120128070	120128070	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgctgagcatccggccGggggacttctctcgctccag	4	8	14	15	5	1	1	0	1	1	0	5	2	3	2	3	3	2	3	3	3	0	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr12:120128070G>C	ENST00000261833.7	-	46	5998	c.5946C>G	c.(5944-5946)ccC>ccG	p.P1982P	CIT_ENST00000392521.2_Silent_p.P2024P|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1982					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)		GCATCCGGCCGGGGGACTTCT	0.721																																					p.P2024P													CIT_ENST00000392521,axilla,malignant_melanoma,-2,6	CIT_ENST00000392521	-2	6	0			c.C6072G												11	13	12					12																	120128070		2162	4257	6419	SO:0001819	synonymous_variant	11113	exon47			CCGGCCGGGGGAC	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.5946C>G	12.37:g.120128070G>C			12	0	0		17	0.12	2	NM_001206999	40	0	0	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	8.921	0.961024	0.18583	.	.	ENSG00000122966	ENST00000392520	T	0.21932	1.98	5.4	-10.8	0.00216	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62637	-0.6812	7	0.87932	D	0	.	3.9034	0.09172	0.1348:0.1179:0.349:0.3982	.	.	.	.	R	1595	ENSP00000376305:P1595R	ENSP00000376305:P1595R	P	-	2	0	CIT	118612453	0.000000	0.05858	0.029000	0.17559	0.995000	0.86356	-3.110000	0.00600	-3.595000	0.00135	-0.120000	0.15030	CCG			0.721	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000259410.4		NM_007174		C	120128070	G	C	120128070	2	2	17	1	0	0	0	0	0	0	0	1	3440	1103	39	5		5	CIT	12	120128070	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	38367167	120128070	13723825	40	1073											
TCTN2	79867	mdanderson.org	37	chr12	124156143	124156143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaccgtgtccctggcaGtgctgcaggacgaggcgggt	5	8	18	10	3	0	1	0	1	0	0	1	3	1	2	2	4	2	3	2	4	0	0			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr12:124156143G>T	ENST00000303372.5	+	2	300	c.172G>T	c.(172-174)Gtg>Ttg	p.V58L	TCTN2_ENST00000426174.2_Missense_Mutation_p.V58L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	58					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GTCCCTGGCAGTGCTGCAGGA	0.632																																					p.V58L													.	.			0			c.G172T												54	53	53					12																	124156143		2203	4300	6503	SO:0001583	missense	79867	exon2			CTGGCAGTGCTGC	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.172G>T	12.37:g.124156143G>T	ENSP00000304941:p.Val58Leu		46	0	0		68	0.06	4	NM_001143850	47	0	0	A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	8.295	0.818700	0.16607	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82619	-1.63;-1.63	4.5	-6.42	0.01932	.	1.258880	0.05935	N	0.635985	T	0.60894	0.2304	N	0.03268	-0.37	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.55179	-0.8181	10	0.10377	T	0.69	-16.4776	14.4384	0.67298	0.0:0.1474:0.7038:0.1488	.	58;58	A8K7Y8;Q96GX1	.;TECT2_HUMAN	L	58	ENSP00000395171:V58L;ENSP00000304941:V58L	ENSP00000304941:V58L	V	+	1	0	TCTN2	122722096	0.001000	0.12720	0.000000	0.03702	0.536000	0.34869	-0.034000	0.12225	-1.068000	0.03156	-0.181000	0.13052	GTG			0.632	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000400652.1		NM_024809		T	124156143	G	T	124156143	3	4	17	1	0	0	0	0	1	0	0	0	15746	1029	36	3	178	3	TCTN2	12	124156143	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	4028073	124156143	9695752	41	1074											
RB1	5925	broad.mit.edu	37	chr13	48947559	48947559	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggactgttatgaacactatCcaacaattaatgatgatttt	15	14	6	6	0	0	3	0	3	0	0	1	4	1	4	1	1	2	1	1	1	6	5			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr13:48947559C>A	ENST00000267163.4	+	12	1284	c.1146C>A	c.(1144-1146)atC>atA	p.I382I		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	382	Domain A.|Pocket; binds T and E1A.				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.?(8)		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)"	TGAACACTATCCAACAATTAA	0.299		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)																											p.I382I			yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	.	RB1	1068		23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.C1146A												103	111	108					13																	48947559		2202	4288	6490	SO:0001819	synonymous_variant	5925	exon12	Familial Cancer Database		CACTATCCAACAA	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.1146C>A	13.37:g.48947559C>A			450	0.0022222222	1		334	0.02	6	NM_000321	29	0.03	1	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																					0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000044884.1				A	48947559	C	A	48947559	2	1	17	1	0	0	0	0	0	0	0	1	13121	845	30	3		3	RB1	13	48947559	Silent	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10		48947559	66222319	42	1075											
TM9SF2	9375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	100192991	100192991	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgataagatcagatgggcGtctagatgggactatattct	12	12	12	5	1	3	4	1	1	2	3	3	6	3	5	0	2	0	0	0	2	4	5	rs149415928		TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr13:100192991G>T	ENST00000376387.4	+	8	1042	c.852G>T	c.(850-852)gcG>gcT	p.A284A		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	284					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TCAGATGGGCGTCTAGATGGG	0.373																																					p.A284A													.	.			0			c.G852T												185	172	177					13																	100192991		2203	4300	6503	SO:0001819	synonymous_variant	9375	exon8			ATGGGCGTCTAGA	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.852G>T	13.37:g.100192991G>T			211	0	0		160	0.46	74	NM_004800	226	0.46	105	A8K399|Q2TAY5	Silent	SNP	ENST00000376387.4	37	CCDS9493.1																																																																																					0.373	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045602.3				T	100192991	G	T	100192991	2	4	17	1	0	0	0	0	0	0	0	1	16001	1132	40	1		1	TM9SF2	13	100192991	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	51245432	100192991	14976887	43	1076											
ING1	3621	mdanderson.org	37	chr13	111366533	111366533	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acggggagcagctccacctgGtgaactatgtggaggactac	10	7	14	10	1	0	1	0	1	0	0	1	4	1	4	2	5	4	2	2	5	3	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr13:111366533G>T	ENST00000375774.3	+	0	0				ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Missense_Mutation_p.V13L|ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTCCACCTGGTGAACTATGT	0.627																																					p.V13L													.	.			0			c.G37T												74	58	64					13																	111366533		2202	4300	6502	SO:0001631	upstream_gene_variant	3621	exon1			CACCTGGTGAACT		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346		13.37:g.111366533G>T	Exception_encountered		55	0	0		34	0.09	3	NM_198219	21	0	0	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479385	0.26511	.	.	ENSG00000153487	ENST00000333219	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	T	0.42877	0.1222	L	0.38531	1.155	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.21518	-1.0243	8	0.12766	T	0.61	.	11.2279	0.48895	0.0:0.0:0.8163:0.1836	.	13	Q5T9H0	.	L	13	.	ENSP00000328436:V13L	V	+	1	0	ING1	110164534	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	8.233000	0.89799	1.301000	0.44836	0.462000	0.41574	GTG			0.627	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000045770.2		NM_005537		T	111366533	G	T	111366533	1	4	17	0	1	0	0	0	0	0	0	0	7750	1261	44	3		3	ING1	13	111366533	5'Flank	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	11173542	111366533	3803345	44	1077											
ADAM21	8747	bcgsc.ca	37	chr14	70924643	70924643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaaataagtggcctcactTatgaaattgaacccatcagg	16	10	7	8	0	2	2	2	2	0	0	2	2	2	2	2	2	1	0	2	2	7	4	rs78114303		TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr14:70924643T>C	ENST00000603540.1	+	2	685	c.427T>C	c.(427-429)Tat>Cat	p.Y143H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.Y143H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	143					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)		TGGCCTCACTTATGAAATTGA	0.433																																					p.Y143H													.	ADAM21	181		0			c.T427C												55	63	60					14																	70924643		2203	4300	6503	SO:0001583	missense	8747	exon2			CTCACTTATGAAA	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.427T>C	14.37:g.70924643T>C	ENSP00000474385:p.Tyr143His		144	0.0208333333	3		174	0.07	13	NM_003813	0		0	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	8.985	0.976280	0.18736	.	.	ENSG00000139985	ENST00000267499	T	0.15952	2.38	3.76	2.59	0.31030	Peptidase M12B, propeptide (1);	0.000000	0.39146	U	0.001443	T	0.48857	0.1523	H	0.94542	3.55	0.30013	N	0.815021	D	0.76494	0.999	D	0.85130	0.997	T	0.55774	-0.8088	10	0.87932	D	0	.	9.3062	0.37876	0.0:0.088:0.0:0.912	.	143	Q9UKJ8	ADA21_HUMAN	H	143	ENSP00000267499:Y143H	ENSP00000267499:Y143H	Y	+	1	0	ADAM21	69994396	0.998000	0.40836	0.563000	0.28383	0.010000	0.07245	3.395000	0.52558	0.610000	0.30035	-0.385000	0.06624	TAT			0.433	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413008.3				C	70924643	T	C	70924643	3	2	17	1	0	0	0	0	1	0	0	0	243	1754	61	4	429	4	ADAM21	14	70924643	Missense_Mutation	SNP	T	TCGA-2G-AAFZ-01A-11D-A42Y-10		70924643	36424897	45	1078											
HEATR4	399671	broad.mit.edu	37	chr14	73989219	73989219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggatccatcgggctgtgCgctcgttcagcttttccagc	4	13	11	13	3	2	0	1	0	1	0	6	1	4	1	2	2	3	4	2	2	0	3			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr14:73989219C>T	ENST00000553558.1	-	3	959	c.638G>A	c.(637-639)cGc>cAc	p.R213H	RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.R213H|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.R166H	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	213								p.R166H(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCGGGCTGTGCGCTCGTTCAG	0.592																																					p.R213H													HEATR4,colon,carcinoma,0,1	HEATR4	126	1	1	Substitution - Missense(1)	large_intestine(1)	c.G638A												51	48	49					14																	73989219		2203	4300	6503	SO:0001583	missense	399671	exon2			GCTGTGCGCTCGT	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.638G>A	14.37:g.73989219C>T	ENSP00000450444:p.Arg213His		114	0	0		156	0.03	5	NM_203309	1	0	0	B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205528	0.58234	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.45276	0.9	6.07	5.18	0.71444	.	0.000000	0.64402	D	0.000004	T	0.28896	0.0717	L	0.36672	1.1	0.35388	D	0.790534	P	0.38788	0.647	B	0.26517	0.07	T	0.46721	-0.9171	10	0.59425	D	0.04	-9.178	11.525	0.50573	0.0:0.918:0.0:0.082	.	213	Q86WZ0	HEAT4_HUMAN	H	213;166	ENSP00000450444:R213H	ENSP00000335447:R166H	R	-	2	0	HEATR4	73058972	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.541000	0.45735	1.577000	0.49804	0.655000	0.94253	CGC			0.592	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414422.2		NM_203309		T	73989219	C	T	73989219	3	4	17	1	0	0	0	0	1	0	0	0	7045	768	27	1	2506	1	HEATR4	14	73989219	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	3064576	73989219	33360321	46	1079											
PLA2G4F	255189	broad.mit.edu	37	chr15	42436300	42436300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaggtacaggcagtccCgcatgggggtgagctggttg	7	7	16	11	1	0	1	0	1	0	0	1	1	1	1	3	5	2	5	3	5	1	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr15:42436300C>T	ENST00000382396.4	-	18	2104	c.2018G>A	c.(2017-2019)cGg>cAg	p.R673Q	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R675Q			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	673	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)		CAGGCAGTCCCGCATGGGGGT	0.587																																					p.R673Q													PLA2G4F,NS,carcinoma,-1,2	PLA2G4F	75	2	0			c.G2018A												91	78	83					15																	42436300		2203	4299	6502	SO:0001583	missense	255189	exon18			CAGTCCCGCATGG		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.2018G>A	15.37:g.42436300C>T	ENSP00000371833:p.Arg673Gln		77	0	0		74	0.04	3	NM_213600	1	0	0	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	c	9.457	1.092215	0.20471	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.12361	2.69;2.69	5.58	-2.48	0.06423	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.887861	0.09621	N	0.777554	T	0.05044	0.0135	L	0.31578	0.945	0.09310	N	1	P;P	0.44006	0.824;0.824	B;B	0.25405	0.06;0.042	T	0.41016	-0.9532	10	0.14252	T	0.57	-1.747	4.4587	0.11656	0.1091:0.2131:0.1074:0.5704	.	460;673	A2RRC4;Q68DD2	.;PA24F_HUMAN	Q	669;675;673;673	ENSP00000380442:R675Q;ENSP00000371833:R673Q	ENSP00000290497:R669Q	R	-	2	0	PLA2G4F	40223592	0.000000	0.05858	0.022000	0.16811	0.802000	0.45316	-0.295000	0.08298	-0.137000	0.11455	-0.854000	0.03029	CGG			0.587	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000420463.1		NM_213600		T	42436300	C	T	42436300	3	4	17	1	0	0	0	0	1	0	0	0	12023	652	23	1	543	1	PLA2G4F	15	42436300	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10		42436300	60095092	47	1080											
ZNF609	23060	mdanderson.org	37	chr15	64970351	64970351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacatatgtttatcctGccaagtactcagacatcaag	12	12	8	9	0	2	1	2	0	0	1	3	2	3	2	2	1	2	2	2	1	5	4			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr15:64970351G>T	ENST00000326648.3	+	5	3567	c.3439G>T	c.(3439-3441)Gcc>Tcc	p.A1147S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1147						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						TGTTTATCCTGCCAAGTACTC	0.498																																					p.A1147S													.	.			0			c.G3439T												57	51	53					15																	64970351		2203	4299	6502	SO:0001583	missense	23060	exon5			TATCCTGCCAAGT	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.3439G>T	15.37:g.64970351G>T	ENSP00000316527:p.Ala1147Ser		65	0	0		46	0.07	3	NM_015042	28	0	0	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612472	0.28712	.	.	ENSG00000180357	ENST00000326648	T	0.40476	1.03	5.14	5.14	0.70334	.	0.231578	0.43416	D	0.000578	T	0.23649	0.0572	N	0.13098	0.295	0.41921	D	0.990519	B	0.28998	0.23	B	0.22386	0.039	T	0.10590	-1.0623	10	0.02654	T	1	-14.7412	17.1468	0.86768	0.0:0.0:1.0:0.0	.	1147	O15014	ZN609_HUMAN	S	1147	ENSP00000316527:A1147S	ENSP00000316527:A1147S	A	+	1	0	ZNF609	62757404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.190000	0.58365	2.537000	0.85549	0.650000	0.86243	GCC			0.498	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418130.1		XM_042833		T	64970351	G	T	64970351	3	4	17	1	0	0	0	0	1	0	0	0	18058	1319	46	2	3457	2	ZNF609	15	64970351	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	22534051	64970351	37561041	48	1081											
AXIN1	8312	mdanderson.org	37	chr16	347728	347728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcgcacgctcacctgtggGcgaggccatcactggcgttg	6	7	15	13	4	2	0	2	0	0	0	2	1	2	0	2	4	0	3	2	4	0	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr16:347728G>T	ENST00000262320.3	-	6	2149	c.1778C>A	c.(1777-1779)gCc>gAc	p.A593D	AXIN1_ENST00000354866.3_Missense_Mutation_p.A593D|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	593	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)				TCACCTGTGGGCGAGGCCATC	0.637																																					p.A593D													.	.			0			c.C1778A												19	20	20					16																	347728		2201	4297	6498	SO:0001583	missense	8312	exon6			CTGTGGGCGAGGC	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.1778C>A	16.37:g.347728G>T	ENSP00000262320:p.Ala593Asp		29	0	0		33	0.09	3	NM_003502	62	0	0	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105290	0.20632	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.61040	0.17;0.14	4.95	2.97	0.34412	.	0.430085	0.28630	N	0.014665	T	0.55832	0.1945	L	0.47716	1.5	0.80722	D	1	B;B	0.28400	0.21;0.041	B;B	0.35607	0.206;0.046	T	0.54669	-0.8259	10	0.41790	T	0.15	0.0084	16.7101	0.85383	0.0:0.3861:0.6139:0.0	.	593;593	O15169-2;O15169	.;AXIN1_HUMAN	D	593	ENSP00000262320:A593D;ENSP00000346935:A593D	ENSP00000262320:A593D	A	-	2	0	AXIN1	287729	0.944000	0.32072	0.887000	0.34795	0.149000	0.21700	0.848000	0.27710	0.588000	0.29660	-0.503000	0.04515	GCC			0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000139441.3				T	347728	G	T	347728	3	4	17	1	0	0	0	0	1	0	0	0	1236	1203	42	2	834	2	AXIN1	16	347728	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10		347728	90007025	49	1082											
CRAMP1L	57585	mdanderson.org	37	chr16	1717336	1717336	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggcgtgctcttcctgcagGgctccgacccatttgtcagc	4	11	12	14	2	2	0	1	0	1	0	4	1	4	0	3	2	3	3	3	2	0	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr16:1717336G>T	ENST00000397412.3	+	17	3136	c.3037G>T	c.(3037-3039)Ggc>Tgc	p.G1013C	CRAMP1L_ENST00000436138.3_Splice_Site_p.G1010C|CRAMP1L_ENST00000293925.5_Splice_Site_p.G1013C|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Splice_Site_p.G391C			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1013						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTTCCTGCAGGGCTCCGACCC	0.607																																					p.G1013C													.	.			0			c.G3037T												45	50	48					16																	1717336		2047	4197	6244	SO:0001630	splice_region_variant	57585	exon16			CTGCAGGGCTCCG	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3037-1G>T	16.37:g.1717336G>T			62	0.0161290323	1		46	0.07	3	NM_020825	12	0	0	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123795	0.77436	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	4.87	4.87	0.63330	.	0.503195	0.22573	N	0.058318	T	0.58264	0.2110	L	0.27053	0.805	0.80722	D	1	D	0.53885	0.963	P	0.55999	0.789	T	0.54180	-0.8332	8	.	.	.	-12.061	15.5894	0.76512	0.0:0.0:1.0:0.0	.	1013	Q96RY5	CRML_HUMAN	C	1013;1013;1010;391	.	.	G	+	1	0	CRAMP1L	1657337	0.988000	0.35896	0.891000	0.34965	0.073000	0.16967	1.613000	0.36900	2.627000	0.88993	0.650000	0.86243	GGC			0.607	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157297.4			Missense_Mutation	T	1717336	G	T	1717336	5	4	17	1	0	0	0	0	0	0	1	0	3848	1246	43	3	3099	3	CRAMP1L	16	1717336	Splice_Site	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	1369608	1717336	88637417	50	1083											
IGFALS	3483	broad.mit.edu;mdanderson.org	37	chr16	1841105	1841105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttggaggtcaggtcgagCtccagcagctccgccagccc	6	7	14	14	2	1	0	1	0	0	0	4	2	3	1	4	4	4	4	4	4	0	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr16:1841105C>T	ENST00000215539.3	-	2	1424	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	IGFALS_ENST00000415638.3_Silent_p.E476E			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	438					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TCAGGTCGAGCTCCAGCAGCT	0.682																																					p.E476E													.	IGFALS	29		0			c.G1428A												16	19	18					16																	1841105		2178	4289	6467	SO:0001819	synonymous_variant	3483	exon2			GTCGAGCTCCAGC	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1314G>A	16.37:g.1841105C>T			27	0	0		13	0.23	3	NM_001146006	10	0.1	1	B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	CCDS10446.1																																																																																					0.682	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250509.2				T	1841105	C	T	1841105	2	4	17	1	0	0	0	0	0	0	0	1	7592	796	28	2		2	IGFALS	16	1841105	Silent	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	123769	1841105	88513648	51	1084											
NFATC3	4775	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	68119617	68119617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgtggcgcccacgacgaGctcgacttcaaactcgtctt	9	9	9	14	5	2	0	1	0	1	0	4	3	2	0	1	1	3	1	1	1	2	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr16:68119617G>A	ENST00000346183.3	+	1	57	c.33G>A	c.(31-33)gaG>gaA	p.E11E	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000575270.1_Silent_p.E11E|NFATC3_ENST00000329524.4_Silent_p.E11E|NFATC3_ENST00000349223.5_Silent_p.E11E	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	11					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCCACGACGAGCTCGACTTCA	0.746																																					p.E11E													.	.			0			c.G33A												16	14	14					16																	68119617		1821	3578	5399	SO:0001819	synonymous_variant	4775	exon1			CGACGAGCTCGAC	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.33G>A	16.37:g.68119617G>A			40	0	0		22	0.36	8	NM_173163	3	0.33	1	O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	CCDS10860.1																																																																																					0.746	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268890.2		NM_004555		A	68119617	G	A	68119617	2	1	17	1	0	0	0	0	0	0	0	1	10381	962	34	2		2	NFATC3	16	68119617	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	66278512	68119617	22235136	52	1085											
AP1G1	164	broad.mit.edu;mdanderson.org	37	chr16	71805154	71805154	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaacagcacacagtgctGcctatgaaaaaaaaaataaa	21	6	6	8	0	0	2	0	2	0	0	0	2	0	2	1	0	4	2	1	0	9	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr16:71805154G>T	ENST00000299980.4	-	5	911	c.470C>A	c.(469-471)gCa>gAa	p.A157E	AP1G1_ENST00000423132.2_Splice_Site_p.A157E|AP1G1_ENST00000569748.1_Splice_Site_p.A157E|AP1G1_ENST00000393512.3_Splice_Site_p.A157E|AP1G1_ENST00000433195.2_Splice_Site_p.A180E	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	157					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)				ACACAGTGCTGCCTATGAAAA	0.333																																					p.A157E													.	AP1G1	83		0			c.C470A												46	44	45					16																	71805154		2198	4298	6496	SO:0001630	splice_region_variant	164	exon5			AGTGCTGCCTATG	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.469-1C>A	16.37:g.71805154G>T			96	0	0		68	0.07	5	NM_001030007	22	0	0	O75709|O75842|Q9UG09|Q9Y3U4	Splice_Site	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218806	0.95104	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.48	5.48	0.80851	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	H	0.97491	4.015	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	0.91682	0.5359	10	0.87932	D	0	-11.8132	19.3636	0.94453	0.0:0.0:1.0:0.0	.	239;157;180;157	B4DS96;O43747;B3KXW5;O43747-2	.;AP1G1_HUMAN;.;.	E	157;157;157;180;28;239	ENSP00000299980:A157E;ENSP00000377148:A157E;ENSP00000409153:A157E;ENSP00000403259:A180E	ENSP00000299980:A157E	A	-	2	0	AP1G1	70362655	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.573000	0.86826	0.655000	0.94253	GCA			0.333	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434147.1			Missense_Mutation	T	71805154	G	T	71805154	5	4	17	1	0	0	0	0	0	0	1	0	732	1333	46	2	2087	2	AP1G1	16	71805154	Splice_Site	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	3685537	71805154	18549599	53	1086											
TMEM102	284114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7339839	7339839	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaccgaacggagagcgaaGaaagttccaaggactggcaa	15	4	12	10	3	0	2	0	0	0	2	2	6	2	3	3	3	2	2	3	3	5	1	rs556911261		TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr17:7339839G>C	ENST00000323206.1	+	3	814	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q	RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.E181Q|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000293829.4_5'Flank|FGF11_ENST00000575235.1_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	181					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GGAGAGCGAAGAAAGTTCCAA	0.572													G|||	1	0.000199681	0	0	5008	,	,		17124	0		0	False		,,,				2504	0.001				p.E181Q													.	.			0			c.G541C												86	83	84					17																	7339839		2203	4300	6503	SO:0001583	missense	284114	exon3			AGCGAAGAAAGTT	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.541G>C	17.37:g.7339839G>C	ENSP00000315387:p.Glu181Gln		145	0	0		119	0.41	49	NM_178518	29	0.45	13	D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	7.941	0.742812	0.15642	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.45276	0.9;0.9	5.36	3.3	0.37823	.	1.268860	0.05337	N	0.529433	T	0.38825	0.1055	L	0.44542	1.39	0.09310	N	1	B	0.17465	0.022	B	0.11329	0.006	T	0.31223	-0.9951	10	0.48119	T	0.1	-24.485	8.9781	0.35948	0.0:0.1621:0.6695:0.1683	.	181	Q8N9M5	TM102_HUMAN	Q	181	ENSP00000315387:E181Q;ENSP00000379815:E181Q	ENSP00000315387:E181Q	E	+	1	0	TMEM102	7280563	0.030000	0.19436	0.005000	0.12908	0.093000	0.18481	1.601000	0.36773	0.689000	0.31550	0.655000	0.94253	GAA			0.572	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256405.1		NM_178518		C	7339839	G	C	7339839	3	2	17	1	0	0	0	0	1	0	0	0	16040	943	33	5	547	5	TMEM102	17	7339839	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10		7339839	73855371	54	1087											
C19orf22	91300	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	900917	900917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcgaagaacccgctcctgCtcctccccggagcggttcat	7	8	10	16	4	1	1	1	0	0	1	4	3	4	2	5	2	4	3	5	2	3	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr19:900917C>T	ENST00000361574.5	-	4	460	c.387G>A	c.(385-387)gaG>gaA	p.E129E	R3HDM4_ENST00000587975.1_Silent_p.E108E	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	129						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										CCCGCTCCTGCTCCTCCCCGG	0.672																																					p.E129E													.	.			0			c.G387A												22	23	23					19																	900917		2198	4300	6498	SO:0001819	synonymous_variant	91300	exon4			CTCCTGCTCCTCC	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 22"	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.387G>A	19.37:g.900917C>T			156	0	0		110	0.05	6	NM_138774	151	0.11	16		Silent	SNP	ENST00000361574.5	37	CCDS12048.1																																																																																					0.672	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458209.1		NM_138774		T	900917	C	T	900917	2	4	17	1	0	0	0	0	0	0	0	1	1916	796	28	2		2	C19orf22	19	900917	Silent	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10		900917	58228066	55	1088											
CHAF1A	10036	mdanderson.org	37	chr19	4428887	4428887	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcagatatttttaacaGgtcagagcctgaggaggtcg	12	10	13	6	1	1	3	1	1	0	2	2	5	1	4	1	3	3	1	1	3	3	4			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr19:4428887G>T	ENST00000301280.5	+	8	1705	c.1604G>T	c.(1603-1605)aGt>aTt	p.S535I	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	535					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)		ATTTTTAACAGGTCAGAGCCT	0.602								Chromatin Structure																													p.S535I													.	.			0			c.G1604T												22	26	24					19																	4428887		2196	4293	6489	SO:0001630	splice_region_variant	10036	exon8			TTAACAGGTCAGA	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.1604+1G>T	19.37:g.4428887G>T			69	0	0		57	0.05	3	NM_005483	67	0	0	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766979	0.49574	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.16457	2.34	5.14	5.14	0.70334	.	.	.	.	.	T	0.26048	0.0635	L	0.56769	1.78	0.53005	D	0.99996	D	0.54047	0.964	P	0.47044	0.535	T	0.02220	-1.1193	9	0.87932	D	0	-7.885	15.7407	0.77894	0.0:0.0:1.0:0.0	.	535	Q13111	CAF1A_HUMAN	I	535	ENSP00000301280:S535I	ENSP00000301280:S535I	S	+	2	0	CHAF1A	4379887	1.000000	0.71417	0.966000	0.40874	0.238000	0.25445	4.875000	0.63072	2.386000	0.81285	0.555000	0.69702	AGT			0.602	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458310.2		NM_005483	Missense_Mutation	T	4428887	G	T	4428887	5	4	17	1	0	0	0	0	0	0	1	0	3313	1014	35	3	1634	3	CHAF1A	19	4428887	Splice_Site	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	3527970	4428887	54700096	56	1089											
RHPN2	85415	hgsc.bcm.edu	37	chr19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcagctccagccgcaCttgctcccgcacctttgagt	7	9	9	16	2	1	1	1	1	0	0	3	2	3	1	4	0	4	5	4	0	1	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr19:33517507C>T	ENST00000254260.3	-	3	252	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V73M(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	Esophageal squamous(110;0.137)					TCCAGCCGCACTTGCTCCCGC	0.552																																					p.V73M													RHPN2,face,carcinoma,0,2	RHPN2	0	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A												84	83	83					19																	33517507		2203	4300	6503	SO:0001583	missense	85415	exon3			GCCGCACTTGCTC	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.217G>A	19.37:g.33517507C>T	ENSP00000254260:p.Val73Met		21	0.0476190476	1		22	0.14	3	NM_033103	61	0	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542997	0.65198	.	.	ENSG00000131941	ENST00000254260	T	0.39787	1.06	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71984	-0.4427	10	0.87932	D	0	11.9954	16.025	0.80536	0.0:1.0:0.0:0.0	.	73	Q8IUC4	RHPN2_HUMAN	M	73	ENSP00000254260:V73M	ENSP00000254260:V73M	V	-	1	0	RHPN2	38209347	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.267000	0.78462	2.167000	0.68274	0.557000	0.71058	GTG			0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450828.2		NM_033103		T	33517507	C	T	33517507	3	4	17	1	0	0	0	0	1	0	0	0	13374	565	20	3	1895	3	RHPN2	19	33517507	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	29088620	33517507	25611476	57	1090											
LRP3	4037	mdanderson.org	37	chr19	33696583	33696583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcagctggaactgcggctgGgctatgacgactacgtgcag	8	8	15	10	3	0	1	0	1	0	0	0	3	0	2	0	3	6	5	0	3	3	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr19:33696583G>T	ENST00000253193.7	+	5	1109	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	303	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACTGCGGCTGGGCTATGACGA	0.692																																					p.G303C													.	.			0			c.G907T												16	23	21					19																	33696583		2190	4281	6471	SO:0001583	missense	4037	exon5			CGGCTGGGCTATG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.907G>T	19.37:g.33696583G>T	ENSP00000253193:p.Gly303Cys		33	0	0		20	0.1	2	NM_002333	58	0	0	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836578	0.50951	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.35048	1.33	5.02	3.98	0.46160	CUB (5);	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	L	0.42245	1.32	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	T	0.43686	-0.9376	10	0.41790	T	0.15	-22.2954	12.8081	0.57626	0.0801:0.0:0.9199:0.0	.	177;303;221	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	C	177;303	ENSP00000253193:G303C	ENSP00000253193:G303C	G	+	1	0	LRP3	38388423	1.000000	0.71417	0.958000	0.39756	0.432000	0.31715	7.995000	0.88328	1.116000	0.41820	0.313000	0.20887	GGC			0.692	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450842.4				T	33696583	G	T	33696583	3	4	17	1	0	0	0	0	1	0	0	0	8974	1232	43	3	925	3	LRP3	19	33696583	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	179076	33696583	25432400	58	1091											
SIGLEC9	27180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	51628989	51628989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggatagggacctccgtgtCccccctggacccctccacca	6	7	9	19	1	0	0	0	0	0	0	3	3	3	3	9	3	0	0	9	3	1	1			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr19:51628989C>T	ENST00000250360.3	+	2	624	c.557C>T	c.(556-558)tCc>tTc	p.S186F	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.S186F	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	186	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCTCCGTGTCCCCCCTGGAC	0.667																																					p.S186F													.	.			0			c.C557T												75	76	76					19																	51628989		2203	4300	6503	SO:0001583	missense	27180	exon2			CCGTGTCCCCCCT	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.557C>T	19.37:g.51628989C>T	ENSP00000250360:p.Ser186Phe		65	0	0		50	0.36	18	NM_001198558	2	0	0	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	8.403	0.842481	0.16963	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.03272	3.99;3.99	2.88	1.79	0.24919	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.109960	0.07038	N	0.829625	T	0.07863	0.0197	M	0.78456	2.415	0.09310	N	1	B	0.20671	0.047	B	0.23852	0.049	T	0.36114	-0.9761	10	0.62326	D	0.03	.	7.3941	0.26926	0.0:0.7274:0.2726:0.0	.	186	Q9Y336	SIGL9_HUMAN	F	186	ENSP00000413861:S186F;ENSP00000250360:S186F	ENSP00000250360:S186F	S	+	2	0	SIGLEC9	56320801	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.210000	0.09345	0.372000	0.24591	0.514000	0.50259	TCC			0.667	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464224.1		NM_014441		T	51628989	C	T	51628989	3	4	17	1	0	0	0	0	1	0	0	0	14338	855	30	3	563	3	SIGLEC9	19	51628989	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10	17932406	51628989	7499994	59	1092											
RBM39	9584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	34300982	34300982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagccactcatctgtagaGcttgctgtgctgctggcgga	8	10	13	10	1	2	2	1	0	1	2	2	3	2	3	1	2	5	5	1	2	2	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr20:34300982G>A	ENST00000253363.6	-	12	1156	c.1133C>T	c.(1132-1134)gCt>gTt	p.A378V	RBM39_ENST00000407261.4_Missense_Mutation_p.A221V|RBM39_ENST00000528062.3_Missense_Mutation_p.A356V|RBM39_ENST00000361162.6_Missense_Mutation_p.A378V			Q14498	RBM39_HUMAN	RNA binding motif protein 39	378	Interaction with ESR1 and ESR2. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CATCTGTAGAGCTTGCTGTGC	0.403																																					p.A378V													.	.			0			c.C1133T												63	60	61					20																	34300982		2203	4300	6503	SO:0001583	missense	9584	exon12			TGTAGAGCTTGCT	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1133C>T	20.37:g.34300982G>A	ENSP00000253363:p.Ala378Val		88	0	0		90	0.42	38	NM_184234	429	0.32	139	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019919	0.75275	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.71	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	L	0.56124	1.755	0.80722	D	1	P;P;P;P;P	0.51933	0.609;0.609;0.729;0.609;0.949	B;B;B;B;P	0.52189	0.235;0.235;0.413;0.298;0.692	T	0.51926	-0.8643	10	0.59425	D	0.04	.	15.0982	0.72253	0.0691:0.0:0.9309:0.0	.	356;356;378;378;354	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	V	378;378;356;221	ENSP00000253363:A378V;ENSP00000354437:A378V;ENSP00000436747:A356V;ENSP00000384541:A221V	ENSP00000253363:A378V	A	-	2	0	RBM39	33764396	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	9.756000	0.98918	2.706000	0.92434	0.650000	0.86243	GCT			0.403	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000078931.2		NM_184237		A	34300982	G	A	34300982	3	1	17	1	0	0	0	0	1	0	0	0	13156	971	34	2	483	2	RBM39	20	34300982	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10		34300982	28724538	60	1093											
TCFL5	10732	bcgsc.ca	37	chr20	61488884	61488884	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgtgtggcggtggcaccTtcgcccacattctgaatctc	5	12	10	14	2	2	1	0	1	2	0	4	1	2	1	3	3	0	1	3	3	1	3			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr20:61488884T>C	ENST00000335351.3	-	4	1193	c.1101A>G	c.(1099-1101)gaA>gaG	p.E367E	TCFL5_ENST00000217162.5_Silent_p.E319E	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	367					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					CGGTGGCACCTTCGCCCACAT	0.577																																					p.E367E													.	TCFL5	43		0			c.A1101G												118	110	113					20																	61488884		2203	4300	6503	SO:0001819	synonymous_variant	10732	exon4			GGCACCTTCGCCC	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"Basic helix-loop-helix proteins"	11646	protein-coding gene	gene with protein product	"HPV-16 E2 binding protein 1"	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1101A>G	20.37:g.61488884T>C			174	0	0		169	0.04	6	NM_006602	72	0	0	O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	37	CCDS13506.1																																																																																					0.577	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080079.2		NM_006602		C	61488884	T	C	61488884	2	2	17	1	0	0	0	0	0	0	0	1	15722	1606	56	4		4	TCFL5	20	61488884	Silent	SNP	T	TCGA-2G-AAFZ-01A-11D-A42Y-10	27187902	61488884	1536636	61	1094											
ZGPAT	84619	mdanderson.org	37	chr20	62364705	62364705	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgcagcacgcatcaccgGtgaggctggccgtgggggcc	6	4	17	14	4	1	1	1	1	0	0	1	1	1	1	3	5	1	5	3	5	0	0			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr20:62364705G>T	ENST00000328969.5	+	3	845		c.e3+1		ZGPAT_ENST00000357119.4_Splice_Site|ZGPAT_ENST00000369967.3_Splice_Site|ZGPAT_ENST00000448100.2_Splice_Site|RP4-583P15.15_ENST00000490623.2_Splice_Site|ZGPAT_ENST00000478385.1_Splice_Site|ZGPAT_ENST00000355969.6_Splice_Site	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain						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)					CGCATCACCGGTGAGGCTGGC	0.677																																					.													ZGPAT,NS,carcinoma,+1,1	ZGPAT	1	1	0			c.718+1G>T												19	21	20					20																	62364705		2203	4299	6502	SO:0001630	splice_region_variant	84619	exon3			TCACCGGTGAGGC	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.718+1G>T	20.37:g.62364705G>T			34	0	0		48	0.06	3	NM_001083113	3	0	0	E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Splice_Site	SNP	ENST00000328969.5	37	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158911	0.38119	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6358	0.88122	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZGPAT	61835149	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	9.082000	0.94059	2.599000	0.87857	0.591000	0.81541	.			0.677	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000080214.1		NM_181484	Intron	T	62364705	G	T	62364705	5	4	17	1	0	0	0	0	0	0	1	0	17697	1275	44	3	725	3	ZGPAT	20	62364705	Splice_Site	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	875821	62364705	660815	62	1095											
TMPRSS15	5651	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	19666630	19666630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagccagtcactgctgaCgagagatgcgccgcagagca	11	4	12	14	3	1	3	1	1	0	2	1	5	1	3	3	0	4	3	3	0	0	0	rs202100185		TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr21:19666630C>T	ENST00000284885.3	-	21	2476	c.2443G>A	c.(2443-2445)Gtc>Atc	p.V815I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	815	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						TCACTGCTGACGAGAGATGCG	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		12733	0		0	False		,,,				2504	0				p.V815I													.	.			0			c.G2443A												72	73	73					21																	19666630		2203	4300	6503	SO:0001583	missense	5651	exon21			TGCTGACGAGAGA		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.2443G>A	21.37:g.19666630C>T	ENSP00000284885:p.Val815Ile		155	0	0		203	0.05	11	NM_002772	0		0	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.326	-0.354521	0.05173	.	.	ENSG00000154646	ENST00000284885	D	0.87966	-2.32	5.79	1.46	0.22682	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.547259	0.18801	N	0.130786	T	0.62780	0.2456	N	0.01742	-0.745	0.22446	N	0.999094	P	0.36959	0.575	B	0.29598	0.104	T	0.58222	-0.7674	9	.	.	.	.	10.1431	0.42747	0.0:0.6753:0.0:0.3247	.	815	P98073	ENTK_HUMAN	I	815	ENSP00000284885:V815I	.	V	-	1	0	TMPRSS15	18588501	0.010000	0.17322	0.198000	0.23420	0.684000	0.39900	0.087000	0.14958	0.378000	0.24764	0.643000	0.83706	GTC	0.001		0.577	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000158231.2		NM_002772		T	19666630	C	T	19666630	3	4	17	1	0	0	0	0	1	0	0	0	16269	536	19	1	636	1	TMPRSS15	21	19666630	Missense_Mutation	SNP	C	TCGA-2G-AAFZ-01A-11D-A42Y-10		19666630	28463265	63	1096											
B3GALT5	10317	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	41032933	41032933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgcttttgtcctcaggcGgcgtttgtgatgaaaacaga	9	12	11	9	3	1	3	1	2	0	1	3	3	2	3	1	2	1	2	1	2	2	3			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr21:41032933G>A	ENST00000380620.4	+	5	1039	c.447G>A	c.(445-447)gcG>gcA	p.A149A	B3GALT5_ENST00000343118.4_Silent_p.A149A|B3GALT5_ENST00000380618.1_Silent_p.A149A|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Silent_p.A149A			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	149					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GTCCTCAGGCGGCGTTTGTGA	0.443																																					p.A149A													.	B3GALT5	40		0			c.G447A												101	96	98					21																	41032933		2203	4300	6503	SO:0001819	synonymous_variant	10317	exon3			TCAGGCGGCGTTT	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.447G>A	21.37:g.41032933G>A			158	0	0		205	0.04	8	NM_033170	7	0.29	2	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	ENST00000380620.4	37	CCDS13667.1																																																																																					0.443	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195008.2	rescued with RNA-seq	NM_033170		A	41032933	G	A	41032933	2	1	17	1	0	0	0	0	0	0	0	1	1250	1103	39	1		1	B3GALT5	21	41032933	Silent	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	21366303	41032933	7096962	64	1097											
MN1	4330	hgsc.bcm.edu	37	chr22	28193690	28193690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcacgtgaccactgtcccTttttctgcgaccccgtcccc	4	11	7	19	3	2	1	1	1	1	0	4	2	4	1	6	0	1	1	6	0	0	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr22:28193690T>C	ENST00000302326.4	-	1	3796	c.2842A>G	c.(2842-2844)Agg>Ggg	p.R948G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	948					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCACTGTCCCTTTTTCTGCGA	0.687			T	ETV6	"AML, meningioma"																																p.R948G				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	.			0			c.A2842G												10	13	12					22																	28193690		1962	4119	6081	SO:0001583	missense	4330	exon1			TGTCCCTTTTTCT	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.2842A>G	22.37:g.28193690T>C	ENSP00000304956:p.Arg948Gly		101	0	0		73	0.05	4	NM_002430	16	0	0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840050	0.51057	.	.	ENSG00000169184	ENST00000302326	T	0.62105	0.05	4.1	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	L	0.29908	0.895	0.40102	D	0.976383	D	0.76494	0.999	D	0.80764	0.994	T	0.55623	-0.8112	10	0.10636	T	0.68	-14.1178	10.6799	0.45809	0.0:0.0:0.4935:0.5065	.	948	Q10571	MN1_HUMAN	G	948	ENSP00000304956:R948G	ENSP00000304956:R948G	R	-	1	2	MN1	26523690	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.826000	0.39092	0.135000	0.18707	0.379000	0.24179	AGG			0.687	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320737.1		NM_002430		C	28193690	T	C	28193690	3	2	17	1	0	0	0	0	1	0	0	0	9689	1608	56	4	1128	4	MN1	22	28193690	Missense_Mutation	SNP	T	TCGA-2G-AAFZ-01A-11D-A42Y-10		28193690	23110876	65	1098											
CELSR1	9620	mdanderson.org	37	chr22	46832126	46832126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccagggcgatgaagtcGtgcttctcattgaagcggcc	8	10	12	11	3	2	2	1	2	2	0	5	3	2	2	2	2	2	1	2	2	2	2			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chr22:46832126G>T	ENST00000262738.3	-	4	4466	c.4467C>A	c.(4465-4467)caC>caA	p.H1489Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1489	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGATGAAGTCGTGCTTCTCAT	0.577																																					p.H1489Q													.	.			0			c.C4467A												107	86	93					22																	46832126		2203	4300	6503	SO:0001583	missense	9620	exon4			GAAGTCGTGCTTC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4467C>A	22.37:g.46832126G>T	ENSP00000262738:p.His1489Gln		65	0	0		51	0.06	3	NM_014246	28	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459841	0.63401	.	.	ENSG00000075275	ENST00000262738	T	0.78816	-1.21	4.73	0.196	0.15159	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.074272	0.52532	U	0.000066	T	0.80747	0.4682	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.78267	-0.2270	10	0.72032	D	0.01	.	8.7315	0.34503	0.4171:0.0:0.5829:0.0	.	1489	Q9NYQ6	CELR1_HUMAN	Q	1489	ENSP00000262738:H1489Q	ENSP00000262738:H1489Q	H	-	3	2	CELSR1	45210790	0.052000	0.20516	1.000000	0.80357	0.958000	0.62258	-0.604000	0.05667	0.162000	0.19483	0.555000	0.69702	CAC			0.577	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		T	46832126	G	T	46832126	3	4	17	1	0	0	0	0	1	0	0	0	3223	1136	40	1	4705	1	CELSR1	22	46832126	Missense_Mutation	SNP	G	TCGA-2G-AAFZ-01A-11D-A42Y-10	18638436	46832126	4472440	66	1099											
ZMYM3	9203	broad.mit.edu	37	chrX	70472909	70472909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactccagggtctttttccAggccagcaggggtatcaagc	8	9	13	11	0	2	0	1	0	1	0	4	1	4	1	3	5	2	2	3	5	2	3			TCGA-2G-AAFZ-01A-11D-A42Y-10	TCGA-2G-AAFZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ca9a5-5e0a-43cb-9415-8379c4ef3a09	2499651e-d997-4ae7-bad7-8945ce31b25c	g.chrX:70472909A>G	ENST00000353904.2	-	2	384	c.197T>C	c.(196-198)cTg>cCg	p.L66P	ZMYM3_ENST00000373998.1_Missense_Mutation_p.L66P|ZMYM3_ENST00000314425.5_Missense_Mutation_p.L66P|ZMYM3_ENST00000373978.1_Missense_Mutation_p.L66P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.L66P|ZMYM3_ENST00000373981.1_Missense_Mutation_p.L66P|ZMYM3_ENST00000373984.3_Missense_Mutation_p.L66P|ZMYM3_ENST00000373982.1_Missense_Mutation_p.L66P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	66					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTCTTTTTCCAGGCCAGCAGG	0.642											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L66P													.	ZMYM3	137		0			c.T197C												14	15	15					X																	70472909		2196	4282	6478	SO:0001583	missense	9203	exon2			TTTTCCAGGCCAG	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.197T>C	X.37:g.70472909A>G	ENSP00000343909:p.Leu66Pro		208	0	0	1122	410	0.02	9	NM_005096	66	0	0	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	a	16.84	3.233341	0.58886	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.28	5.28	0.74379	.	0.000000	0.40818	N	0.001001	T	0.43233	0.1238	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.995	D;D;D	0.78314	0.986;0.991;0.979	T	0.34775	-0.9815	10	0.36615	T	0.2	-5.7551	12.9179	0.58216	1.0:0.0:0.0:0.0	.	66;66;66	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	P	66	ENSP00000322845:L66P;ENSP00000363110:L66P;ENSP00000343909:L66P;ENSP00000363096:L66P;ENSP00000363100:L66P;ENSP00000363094:L66P;ENSP00000363093:L66P;ENSP00000363090:L66P	ENSP00000322845:L66P	L	-	2	0	ZMYM3	70389634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.684000	0.46951	1.765000	0.52091	0.237000	0.17872	CTG			0.642	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000057154.1		NM_201599		G	70472909	A	G	70472909	3	3	17	1	0	0	0	0	1	0	0	0	17724	188	7	4	4029	4	ZMYM3	23	70472909	Missense_Mutation	SNP	A	TCGA-2G-AAFZ-01A-11D-A42Y-10		70472909	84797651	67	1100											
GPBP1L1	60313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	46124749	46124749	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcaggaacaaaatcaTgctgcgccatttaggtccag	13	7	10	11	1	1	0	1	0	0	0	2	1	2	1	3	2	4	2	3	2	5	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr1:46124749T>G	ENST00000290795.3	-	3	1232	c.11A>C	c.(10-12)cAt>cCt	p.H4P	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.H4P			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	4					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AACAAAATCATGCTGCGCCAT	0.428																																					p.H4P													.	.			0			c.A11C												146	136	139					1																	46124749		2203	4300	6503	SO:0001583	missense	60313	exon4			AAATCATGCTGCG		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.11A>C	1.37:g.46124749T>G	ENSP00000290795:p.His4Pro		46	0	0		85	0.09	8	NM_021639	248	0.28	69	D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	CCDS528.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.042382	0.93685	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.28666	1.6;1.6	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.69823	2.125	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.59804	-0.7385	10	0.87932	D	0	-18.5825	16.4323	0.83853	0.0:0.0:0.0:1.0	.	4	Q9HC44	GPBL1_HUMAN	P	4	ENSP00000290795:H4P;ENSP00000347224:H4P	ENSP00000290795:H4P	H	-	2	0	GPBP1L1	45897336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.621000	0.83083	2.281000	0.76405	0.528000	0.53228	CAT			0.428	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098375.1		NM_021639		G	46124749	T	G	46124749	3	3	18	1	0	0	0	0	1	0	0	0	6610	1464	51	4	1453	4	GPBP1L1	1	46124749	Missense_Mutation	SNP	T	TCGA-2G-AAG0-01A-11D-A42Y-10		46124749	203125872	1	1101											
LPPR5	163404	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	99470160	99470160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtacgccagcatcaccGtccctgccatgatcaccatc	10	8	7	16	2	2	1	2	1	0	0	4	1	3	1	5	0	3	3	5	0	2	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr1:99470160G>A	ENST00000263177.4	-	1	289	c.68C>T	c.(67-69)aCg>aTg	p.T23M	LPPR5_ENST00000370188.3_Missense_Mutation_p.T23M|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'Flank	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		23						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										CAGCATCACCGTCCCTGCCAT	0.647																																					p.T23M													.	.			0			c.C68T												93	73	80					1																	99470160		2203	4299	6502	SO:0001583	missense	0	exon1			ATCACCGTCCCTG																												ENST00000263177.4:c.68C>T	1.37:g.99470160G>A	ENSP00000263177:p.Thr23Met		165	0	0		134	0.16	21	NM_001037317	0		0	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695152	0.68386	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.43294	0.95;0.95	3.87	1.88	0.25563	.	0.164835	0.53938	D	0.000058	T	0.44540	0.1298	M	0.74881	2.28	0.46416	D	0.999031	D;D	0.76494	0.999;0.999	D;P	0.67103	0.949;0.891	T	0.40720	-0.9548	10	0.46703	T	0.11	.	6.823	0.23866	0.0973:0.0:0.7275:0.1752	.	23;23	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	M	23	ENSP00000359207:T23M;ENSP00000263177:T23M	ENSP00000263177:T23M	T	-	2	0	AL161744.1	99242748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.109000	0.94291	0.358000	0.24211	0.555000	0.69702	ACG			0.647	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000393221.1				A	99470160	G	A	99470160	3	1	18	1	0	0	0	0	1	0	0	0	8944	1145	40	1	921	1	LPPR5	1	99470160	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	53345411	99470160	149780461	2	1102											
PHGDH	26227	mdanderson.org	37	chr1	120277316	120277316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctttggtgttcagcaGctgcccctggaggagatctg	5	11	13	12	0	2	1	1	0	1	1	3	3	3	2	4	3	3	3	4	3	0	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr1:120277316G>T	ENST00000369409.4	+	6	706	c.570G>T	c.(568-570)caG>caT	p.Q190H	PHGDH_ENST00000369407.3_Missense_Mutation_p.Q156H	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	190					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)		GTGTTCAGCAGCTGCCCCTGG	0.527																																					p.Q190H													.	.			0			c.G570T												195	186	189					1																	120277316		2203	4300	6503	SO:0001583	missense	26227	exon6			TCAGCAGCTGCCC	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.570G>T	1.37:g.120277316G>T	ENSP00000358417:p.Gln190His		51	0	0		36	0.08	3	NM_006623	560	0	0	B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	17.36	3.368937	0.61624	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000535091;ENST00000369407	T;T	0.80123	-1.34;-1.34	5.47	4.55	0.56014	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	N	0.14661	0.345	0.80722	D	1	D;P;P;P;D;P	0.67145	0.996;0.79;0.705;0.622;0.995;0.622	D;B;P;B;P;B	0.63381	0.914;0.381;0.6;0.274;0.86;0.274	T	0.66945	-0.5795	10	0.17369	T	0.5	-0.878	12.4031	0.55424	0.0818:0.0:0.9182:0.0	.	62;156;22;156;63;190	Q9UMY2;B3KSC3;F5GYN9;Q5SZU1;F5H634;O43175	.;.;.;.;.;SERA_HUMAN	H	190;63;22;156	ENSP00000358417:Q190H;ENSP00000358415:Q156H	ENSP00000358415:Q156H	Q	+	3	2	PHGDH	120078839	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.724000	0.61972	2.577000	0.86979	0.655000	0.94253	CAG			0.527	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033464.1		NM_006623		T	120277316	G	T	120277316	3	4	18	1	0	0	0	0	1	0	0	0	11858	962	34	2	592	2	PHGDH	1	120277316	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	20807156	120277316	128973305	3	1103											
BCL9	607	broad.mit.edu	37	chr1	147092151	147092151	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacatgggatccaactcTcagatgatacctcagaagat	14	9	8	10	0	3	4	3	1	1	3	5	5	4	5	2	1	3	0	2	1	4	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr1:147092151T>C	ENST00000234739.3	+	8	2930	c.2190T>C	c.(2188-2190)tcT>tcC	p.S730S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	730	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)					GATCCAACTCTCAGATGATAC	0.537			T	"IGH@, IGL@"	B-ALL																																p.S730S				Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	BCL9	150		0			c.T2190C												42	42	42					1																	147092151		2203	4300	6503	SO:0001819	synonymous_variant	607	exon8			CAACTCTCAGATG	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.2190T>C	1.37:g.147092151T>C			86	0	0		145	0.02	3	NM_004326	42	0	0	Q5T489	Silent	SNP	ENST00000234739.3	37	CCDS30833.1																																																																																					0.537	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039468.1		NM_004326		C	147092151	T	C	147092151	2	2	18	1	0	0	0	0	0	0	0	1	1381	1538	54	4		4	BCL9	1	147092151	Silent	SNP	T	TCGA-2G-AAG0-01A-11D-A42Y-10	26814835	147092151	102158470	4	1104											
RUSC1	23623	broad.mit.edu	37	chr1	155292770	155292770	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcccgccccggcccccAcccccgcctgtccctccccg	1	6	8	26	4	0	0	0	0	0	0	3	0	3	0	11	2	0	0	11	2	0	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr1:155292770A>C	ENST00000368352.5	+	2	1357	c.1206A>C	c.(1204-1206)ccA>ccC	p.P402P	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Silent_p.P402P|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000292254.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	402					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCGGCCCCCACCCCCGCCTG	0.726																																					p.P402P													.	RUSC1	85		0			c.A1206C																																									SO:0001819	synonymous_variant	23623	exon2			GCCCCCACCCCCG	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1206A>C	1.37:g.155292770A>C			36	0.2777777778	10		36	0.47	17	NM_001105204	0		0	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																					0.726	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039071.1				C	155292770	A	C	155292770	2	2	18	1	0	0	0	0	0	0	0	1	13773	146	6	4		4	RUSC1	1	155292770	Silent	SNP	A	TCGA-2G-AAG0-01A-11D-A42Y-10	8200619	155292770	93957851	5	1105											
ASPM	259266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	197115320	197115320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcccaggtccgcggccGggaagtgggagatcttcact	8	7	15	11	3	2	2	1	1	1	1	3	4	3	3	3	4	1	0	3	4	2	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr1:197115320G>T	ENST00000367409.4	-	1	504	c.248C>A	c.(247-249)cCg>cAg	p.P83Q	ASPM_ENST00000294732.7_Missense_Mutation_p.P83Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	83					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						GTCCGCGGCCGGGAAGTGGGA	0.612																																					p.P83Q													.	.			0			c.C248A												104	109	107					1																	197115320		2203	4300	6503	SO:0001583	missense	259266	exon1			GCGGCCGGGAAGT	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.248C>A	1.37:g.197115320G>T	ENSP00000356379:p.Pro83Gln		71	0	0		106	0.19	20	NM_001206846	5	0.6	3	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965799	0.53507	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367406	T;T	0.62364	0.03;1.44	4.43	3.45	0.39498	.	0.094031	0.45606	D	0.000344	T	0.67392	0.2888	L	0.54323	1.7	0.33742	D	0.61954	D;B	0.59767	0.986;0.107	P;B	0.55749	0.783;0.044	T	0.74197	-0.3743	10	0.29301	T	0.29	.	13.917	0.63905	0.0:0.2024:0.7976:0.0	.	83;83	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	83	ENSP00000356379:P83Q;ENSP00000294732:P83Q	ENSP00000294732:P83Q	P	-	2	0	ASPM	195381943	0.982000	0.34865	0.093000	0.20910	0.328000	0.28507	2.102000	0.41796	0.892000	0.36259	0.655000	0.94253	CCG			0.612	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000088256.1		NM_018136		T	197115320	G	T	197115320	3	4	18	1	0	0	0	0	1	0	0	0	1056	1116	39	1	10297	1	ASPM	1	197115320	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	41822550	197115320	52135301	6	1106											
RANBP2	5903	broad.mit.edu	37	chr2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-																															gaagaatggccgtggtgtgaTttttggccaaacaagtagca																										TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					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						CGTGGTGTGATTTTTGGCCAA	0.413																																					p.I1937fs													.	RANBP2	488		0			c.5810delT												93	111	105					2																	109382805		2195	4282	6477	SO:0001589	frameshift_variant	5903	exon20			GTGTGATTTTTGG	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.5810delT	2.37:g.109382805delT	ENSP00000283195:p.Ile1937fs		1255	0	0		1320	0.01	7	NM_006267	23	0	0	Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	CCDS2079.1																																																																																					0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253594.1		NM_006267		-	109382805	T	-	109382805	7	5	18	1	0	1	0	1	0	0	0	0	13051	1493	52	0	5888	0	RANBP2	2	109382805	Frame_Shift_Del	DEL	T	TCGA-2G-AAG0-01A-11D-A42Y-10		109382805	133816568	7	1107											
EPB41L5	57669	mdanderson.org	37	chr2	120844774	120844774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccagattggattttaaGaagaataaattaaccttggt	17	13	7	4	0	0	3	0	0	0	3	0	4	0	4	2	2	2	0	2	2	7	7			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr2:120844774G>T	ENST00000263713.5	+	11	1045	c.831G>T	c.(829-831)aaG>aaT	p.K277N	EPB41L5_ENST00000331393.4_Missense_Mutation_p.K277N|EPB41L5_ENST00000443902.2_Missense_Mutation_p.K277N|EPB41L5_ENST00000443124.1_Missense_Mutation_p.K277N|EPB41L5_ENST00000452780.1_Missense_Mutation_p.K277N	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	277	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGGATTTTAAGAAGAATAAAT	0.269																																					p.K277N													.	.			0			c.G831T												68	77	74					2																	120844774		2197	4299	6496	SO:0001583	missense	57669	exon11			TTTTAAGAAGAAT	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.831G>T	2.37:g.120844774G>T	ENSP00000263713:p.Lys277Asn		56	0	0		48	0.06	3	NM_001184938	23	0	0	Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483199	0.63962	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	4.91	4.03	0.46877	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	H	0.95151	3.63	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.87578	0.986;0.996;0.991;0.998	D	0.93318	0.6690	10	0.87932	D	0	.	10.426	0.44378	0.158:0.0:0.842:0.0	.	277;277;277;277	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	N	277	ENSP00000263713:K277N;ENSP00000393856:K277N;ENSP00000329687:K277N;ENSP00000393722:K277N;ENSP00000390439:K277N	ENSP00000263713:K277N	K	+	3	2	EPB41L5	120561244	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.884000	0.56175	1.076000	0.40961	-0.136000	0.14681	AAG			0.269	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000254230.2		NM_020909		T	120844774	G	T	120844774	3	4	18	1	0	0	0	0	1	0	0	0	5164	933	33	3	869	3	EPB41L5	2	120844774	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	11461969	120844774	122354599	8	1108											
LCT	3938	mdanderson.org	37	chr2	136545926	136545926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccgggctcaattcctgttGgcttcgttgtgttttccctt	3	17	9	12	2	1	0	1	0	0	0	4	0	3	0	3	2	0	5	3	2	1	7			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr2:136545926G>T	ENST00000264162.2	-	17	5762	c.5752C>A	c.(5752-5754)Caa>Aaa	p.Q1918K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1918					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)	AATTCCTGTTGGCTTCGTTGT	0.458																																					p.Q1918K													.	.			0			c.C5752A												244	232	236					2																	136545926		2203	4300	6503	SO:0001583	missense	3938	exon17			CCTGTTGGCTTCG	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.5752C>A	2.37:g.136545926G>T	ENSP00000264162:p.Gln1918Lys		54	0	0		45	0.07	3	NM_002299	2	0	0	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225357	0.39300	.	.	ENSG00000115850	ENST00000264162	T	0.26067	1.76	5.82	4.03	0.46877	.	0.801296	0.11609	N	0.546984	T	0.22898	0.0553	L	0.54323	1.7	0.09310	N	1	B	0.21905	0.062	B	0.21708	0.036	T	0.28170	-1.0052	10	0.33141	T	0.24	-2.2628	4.6324	0.12507	0.0824:0.1512:0.6091:0.1572	.	1918	P09848	LPH_HUMAN	K	1918	ENSP00000264162:Q1918K	ENSP00000264162:Q1918K	Q	-	1	0	LCT	136262396	0.940000	0.31905	0.529000	0.27951	0.156000	0.22039	2.438000	0.44837	0.804000	0.34136	0.655000	0.94253	CAA			0.458	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254657.1		NM_002299		T	136545926	G	T	136545926	3	4	18	1	0	0	0	0	1	0	0	0	8708	1357	47	3	35	3	LCT	2	136545926	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	15701152	136545926	106653447	9	1109											
SCN9A	6335	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	167085326	167085326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgatttggaacttgacttgCaggaaaccgtgacccatctg	11	10	10	10	2	1	2	0	2	1	0	1	5	1	4	2	2	3	1	2	2	2	3			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr2:167085326C>G	ENST00000409435.1	-	21	4080	c.4081G>C	c.(4081-4083)Gca>Cca	p.A1361P	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.A1350P|SCN9A_ENST00000375387.4_Missense_Mutation_p.A1362P|SCN9A_ENST00000303354.6_Missense_Mutation_p.A1362P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1361					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)	ACTTGACTTGCAGGAAACCGT	0.398																																					p.A1350P													.	.			0			c.G4048C												227	232	230					2																	167085326		2057	4224	6281	SO:0001583	missense	6335	exon22			GACTTGCAGGAAA	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.4081G>C	2.37:g.167085326C>G	ENSP00000386330:p.Ala1361Pro		111	0	0		111	0.05	6	NM_002977	0		0	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	9.733	1.162726	0.21538	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96168	-3.9;-3.93;-3.93;-3.93	5.3	-8.13	0.01073	.	2.841100	0.00871	N	0.002031	D	0.89619	0.6767	N	0.17674	0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79936	-0.1593	10	0.36615	T	0.2	.	11.4943	0.50400	0.0:0.4747:0.3064:0.2189	.	1350	E7EUN6	.	P	1350;1362;1362;1361	ENSP00000386306:A1350P;ENSP00000364536:A1362P;ENSP00000304748:A1362P;ENSP00000386330:A1361P	ENSP00000304748:A1362P	A	-	1	0	SCN9A	166793572	0.000000	0.05858	0.000000	0.03702	0.527000	0.34593	-5.027000	0.00158	-1.458000	0.01916	-0.484000	0.04775	GCA			0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000333639.1		NM_002977		G	167085326	C	G	167085326	3	3	18	1	0	0	0	0	1	0	0	0	13948	710	25	5	1909	5	SCN9A	2	167085326	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	30539400	167085326	76114047	10	1110											
TTN	7273	bcgsc.ca	37	chr2	179480494	179480494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggaactgtgaattctaGatcagtcacaaagtccataa	16	10	7	8	0	4	2	3	1	1	1	5	3	5	3	1	1	1	0	1	1	5	3			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr2:179480494G>T	ENST00000591111.1	-	208	43635	c.43411C>A	c.(43411-43413)Cta>Ata	p.L14471I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L7172I|TTN_ENST00000460472.2_Missense_Mutation_p.L7047I|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L7239I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L16112I|TTN_ENST00000342992.6_Missense_Mutation_p.L13544I			Q8WZ42	TITIN_HUMAN	titin	14471	Fibronectin type-III 4. {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)			GTGAATTCTAGATCAGTCACA	0.383																																					p.L16112I													.	TTN	18412		0			c.C48334A												80	74	75					2																	179480494		1844	4090	5934	SO:0001583	missense	7273	exon258			ATTCTAGATCAGT	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.43411C>A	2.37:g.179480494G>T	ENSP00000465570:p.Leu14471Ile		146	0	0		161	0.04	6	NM_001267550	1	0	0	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		.	.	.	.	.	.	.	.	.	.	G	12.24	1.877514	0.33162	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.96	4.05	0.47172	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50633	0.1627	L	0.45698	1.435	0.33264	D	0.560141	P;P;P;P	0.44659	0.84;0.84;0.84;0.84	P;P;P;P	0.44673	0.457;0.457;0.457;0.457	T	0.64149	-0.6475	9	0.87932	D	0	.	11.6993	0.51560	0.1511:0.0:0.8489:0.0	.	7047;7172;7239;14471	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	13544;7047;7239;7172;7047	ENSP00000343764:L13544I;ENSP00000434586:L7047I;ENSP00000340554:L7239I;ENSP00000352154:L7172I	ENSP00000340554:L7239I	L	-	1	2	TTN	179188739	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	6.559000	0.73946	0.744000	0.32741	0.655000	0.94253	CTA			0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		T	179480494	G	T	179480494	3	4	18	1	0	0	0	0	1	0	0	0	16759	933	33	3	59779	3	TTN	2	179480494	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	12395168	179480494	63718879	11	1111											
GULP1	51454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	189452633	189452633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatttaactgtggagcagCagatttccctccagatattc	10	12	7	12	0	0	2	0	0	0	2	3	3	2	3	3	1	3	2	3	1	2	5			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr2:189452633C>T	ENST00000409580.1	+	12	1514	c.800C>T	c.(799-801)gCa>gTa	p.A267V	GULP1_ENST00000409805.1_Missense_Mutation_p.A164V|GULP1_ENST00000409609.1_Missense_Mutation_p.A267V|GULP1_ENST00000409830.1_Missense_Mutation_p.A267V|GULP1_ENST00000359135.3_Missense_Mutation_p.A267V|GULP1_ENST00000409843.1_Missense_Mutation_p.A267V			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	267					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)			TGTGGAGCAGCAGATTTCCCT	0.373																																					p.A267V	Pancreas(178;563 2065 20199 42378 52815)												.	.			0			c.C800T												102	103	103					2																	189452633		2203	4300	6503	SO:0001583	missense	51454	exon11			GAGCAGCAGATTT	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.800C>T	2.37:g.189452633C>T	ENSP00000386289:p.Ala267Val		317	0	0		289	0.17	48	NM_016315	14	0.29	4	B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.11|19.11	3.764606|3.764606	0.69878|0.69878	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609|ENST00000451191;ENST00000433052	T;T;T;T;T|.	0.46451|.	0.87;0.89;0.89;0.89;0.89|.	5.6|5.6	4.72|4.72	0.59763|0.59763	.|.	0.216900|.	0.47455|.	D|.	0.000233|.	T|.	0.61813|.	0.2377|.	L|L	0.46157|0.46157	1.445|1.445	0.39919|0.39919	D|D	0.974138|0.974138	P;P;B;B|.	0.41848|.	0.763;0.664;0.03;0.1|.	B;B;B;B|.	0.38500|.	0.085;0.275;0.033;0.022|.	T|.	0.61277|.	-0.7095|.	10|.	0.27785|.	T|.	0.31|.	-1.7295|-1.7295	15.4384|15.4384	0.75165|0.75165	0.0:0.1454:0.8546:0.0|0.0:0.1454:0.8546:0.0	.|.	164;91;267;267|.	E9PB86;Q59EC1;Q9UBP9;B8ZZ72|.	.;.;GULP1_HUMAN;.|.	V|X	267;267;164;267;267;267|92;152	ENSP00000387144:A267V;ENSP00000386732:A267V;ENSP00000352047:A267V;ENSP00000386289:A267V;ENSP00000386867:A267V|.	ENSP00000352047:A267V|.	A|Q	+|+	2|1	0|0	GULP1|GULP1	189160878|189160878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.782000|5.782000	0.68973|0.68973	1.368000|1.368000	0.46115|0.46115	-0.340000|-0.340000	0.08031|0.08031	GCA|CAG			0.373	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335722.1		NM_016315		T	189452633	C	T	189452633	3	4	18	1	0	0	0	0	1	0	0	0	6916	710	25	2	834	2	GULP1	2	189452633	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	9972139	189452633	53746740	12	1112											
SLC6A6	6533	hgsc.bcm.edu	37	chr3	14508094	14508094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgagggctgacgctgcCgggcgcgggcgcaggcatca	5	4	19	13	6	1	1	1	1	0	0	2	2	2	1	2	5	1	4	2	5	0	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr3:14508094C>T	ENST00000454876.2	+	7	1132	c.803C>T	c.(802-804)cCg>cTg	p.P268L	SLC6A6_ENST00000360861.3_Missense_Mutation_p.P268L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	268					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTGACGCTGCCGGGCGCGGGC	0.617																																					p.P268L													SLC6A6,NS,malignant_melanoma,0,2	SLC6A6	0	2	0			c.C803T												89	75	80					3																	14508094		2203	4300	6503	SO:0001583	missense	6533	exon7			CGCTGCCGGGCGC		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.803C>T	3.37:g.14508094C>T	ENSP00000398063:p.Pro268Leu		36	0	0		31	0.06	2	NM_003043	20	0	0	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797092	0.90453	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.78595	-1.19;-1.19	4.55	4.55	0.56014	.	0.108366	0.64402	D	0.000004	D	0.91690	0.7373	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94440	0.7657	10	0.87932	D	0	.	17.6676	0.88207	0.0:1.0:0.0:0.0	.	268	P31641	SC6A6_HUMAN	L	268	ENSP00000398063:P268L;ENSP00000354107:P268L	ENSP00000354107:P268L	P	+	2	0	SLC6A6	14483098	1.000000	0.71417	0.961000	0.40146	0.739000	0.42172	7.813000	0.86123	2.241000	0.73720	0.491000	0.48974	CCG			0.617	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340507.1		NM_003043		T	14508094	C	T	14508094	3	4	18	1	0	0	0	0	1	0	0	0	14711	652	23	1	825	1	SLC6A6	3	14508094	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10		14508094	183514336	13	1113											
SUCLG2	8801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	67578573	67578573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgttaactttcacacCttcttttggagtttgttttg	6	21	6	8	0	2	0	1	0	1	0	2	1	2	1	2	1	2	3	2	1	2	10			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr3:67578573C>T	ENST00000307227.5	-	4	427	c.400G>A	c.(400-402)Ggt>Agt	p.G134S	SUCLG2_ENST00000493112.1_Missense_Mutation_p.G134S|SUCLG2_ENST00000492795.1_Missense_Mutation_p.G134S	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	134	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	ACTTTCACACCTTCTTTTGGA	0.348																																					p.G134S													SUCLG2_ENST00000493112,NS,carcinoma,0,3	SUCLG2_ENST00000493112	0	3	0			c.G400A												123	106	111					3																	67578573		1834	4074	5908	SO:0001583	missense	8801	exon4			TCACACCTTCTTT	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.400G>A	3.37:g.67578573C>T	ENSP00000307432:p.Gly134Ser		75	0	0		72	0.1	7	NM_001177599	17	0.35	6	C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	CCDS43104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.415462|5.415462	0.96092|0.96092	.|.	.|.	ENSG00000172340|ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000541608;ENST00000492795|ENST00000460567	T;T;T|.	0.75050|.	-0.9;-0.9;-0.9|.	5.95|5.95	5.95|5.95	0.96441|0.96441	ATP-grasp fold, subdomain 1 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87140|0.87140	0.6103|0.6103	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.89028|0.89028	0.3440|0.3440	10|5	0.87932|.	D|.	0|.	.|.	20.3921|20.3921	0.98947|0.98947	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	86;134|.	F5H4S7;Q96I99|.	.;SUCB2_HUMAN|.	S|K	134;134;86;134|25	ENSP00000419325:G134S;ENSP00000307432:G134S;ENSP00000417589:G134S|.	ENSP00000307432:G134S|.	G|R	-|-	1|2	0|0	SUCLG2|SUCLG2	67661263|67661263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.625000|7.625000	0.83145|0.83145	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GGT|AGG			0.348	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351993.1		NM_003848		T	67578573	C	T	67578573	3	4	18	1	0	0	0	0	1	0	0	0	15388	681	24	3	1074	3	SUCLG2	3	67578573	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	53070479	67578573	130443857	14	1114											
CHMP2B	25978	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	87289878	87289878	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaacagaatcgagagttaCgaggtacacagagggctata	16	6	13	6	2	0	3	0	0	0	3	1	6	0	4	0	3	3	3	0	3	6	4	rs138886714	byFrequency	TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr3:87289878C>G	ENST00000263780.4	+	2	302	c.64C>G	c.(64-66)Cga>Gga	p.R22G	CHMP2B_ENST00000494980.1_Missense_Mutation_p.R22G|CHMP2B_ENST00000471660.1_Intron|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	22					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCGAGAGTTACGAGGTACACA	0.323																																					p.R22G													.	.			0			c.C64G												101	103	102					3																	87289878		2203	4300	6503	SO:0001583	missense	25978	exon2			GAGTTACGAGGTA	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.64C>G	3.37:g.87289878C>G	ENSP00000263780:p.Arg22Gly		281	0	0		252	0.21	52	NM_014043	81	0.21	17	B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644820	0.47258	.	.	ENSG00000083937	ENST00000263780;ENST00000494980	T;T	0.74737	-0.87;-0.87	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	M	0.74389	2.26	0.80722	D	1	P	0.38711	0.643	P	0.46237	0.508	T	0.80612	-0.1305	10	0.56958	D	0.05	-13.3005	12.4664	0.55762	0.2816:0.7184:0.0:0.0	.	22	Q9UQN3	CHM2B_HUMAN	G	22	ENSP00000263780:R22G;ENSP00000418920:R22G	ENSP00000263780:R22G	R	+	1	2	CHMP2B	87372568	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.986000	0.49370	2.542000	0.85734	0.650000	0.86243	CGA			0.323	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352779.2		NM_014043		G	87289878	C	G	87289878	3	3	18	1	0	0	0	0	1	0	0	0	3357	528	19	5	70	5	CHMP2B	3	87289878	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	19711305	87289878	110732552	15	1115											
DIRC2	84925	hgsc.bcm.edu	37	chr3	122579034	122579034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaacagcatcacacacCtacctttaaccacaggtgag	13	9	7	12	0	1	2	1	2	0	0	1	2	1	2	3	1	4	2	3	1	3	4			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr3:122579034C>A	ENST00000261038.5	+	7	1521	c.1123C>A	c.(1123-1125)Cta>Ata	p.L375I		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	375					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CATCACACACCTACCTTTAAC	0.413																																					p.L375I													.	.			0			c.C1123A												135	123	127					3																	122579034		2203	4300	6503	SO:0001583	missense	84925	exon7			ACACACCTACCTT	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1123C>A	3.37:g.122579034C>A	ENSP00000261038:p.Leu375Ile		122	0	0		124	0.04	5	NM_032839	47	0	0	A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698054	0.68386	.	.	ENSG00000138463	ENST00000261038	T	0.59083	0.29	6.08	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	L	0.39326	1.205	0.80722	D	1	P	0.35481	0.504	B	0.36534	0.227	T	0.48080	-0.9066	10	0.37606	T	0.19	.	12.3141	0.54946	0.0:0.9175:0.0:0.0825	.	375	Q96SL1	DIRC2_HUMAN	I	375	ENSP00000261038:L375I	ENSP00000261038:L375I	L	+	1	2	DIRC2	124061724	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.049000	0.64244	1.557000	0.49525	0.591000	0.81541	CTA			0.413	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356180.2		NM_032839		A	122579034	C	A	122579034	3	1	18	1	0	0	0	0	1	0	0	0	4539	680	24	3	1149	3	DIRC2	3	122579034	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	35289156	122579034	75443396	16	1116											
PLXNA1	5361	mdanderson.org	37	chr3	126734047	126734047	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaaccttctaccgtgtGagcccctcccgtgggcctct	6	9	8	18	2	2	1	0	1	2	0	3	1	3	1	7	1	3	0	7	1	2	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr3:126734047G>T	ENST00000393409.2	+	14	2898	c.2898G>T	c.(2896-2898)gtG>gtT	p.V966V	PLXNA1_ENST00000251772.4_Silent_p.V943V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	966	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCTACCGTGTGAGCCCCTCCC	0.637																																					p.V966V													.	.			0			c.G2898T												66	68	68					3																	126734047		2203	4300	6503	SO:0001819	synonymous_variant	5361	exon14			CCGTGTGAGCCCC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2898G>T	3.37:g.126734047G>T			51	0	0		45	0.07	3	NM_032242	12	0	0		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																					0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356451.1		NM_032242		T	126734047	G	T	126734047	2	4	18	1	0	0	0	0	0	0	0	1	12136	1277	45	3		3	PLXNA1	3	126734047	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	4155013	126734047	71288383	17	1117											
GFM1	85476	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr3	158376767	158376767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcagggagagctaaagaaGggtgacaccatctataacac	16	7	10	8	0	2	3	1	1	1	2	2	4	2	3	1	2	2	1	1	2	6	4			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr3:158376767G>T	ENST00000486715.1	+	9	1497	c.1140G>T	c.(1138-1140)aaG>aaT	p.K380N	GFM1_ENST00000478576.1_Missense_Mutation_p.K380N|GFM1_ENST00000264263.5_Missense_Mutation_p.K399N	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGCTAAAGAAGGGTGACACCA	0.443																																					p.K380N													.	.			0			c.G1140T												134	121	125					3																	158376767		2203	4300	6503	SO:0001583	missense	85476	exon9			AAAGAAGGGTGAC	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1140G>T	3.37:g.158376767G>T	ENSP00000419038:p.Lys380Asn		58	0	0		70	0.07	5	NM_024996	42	0	0		Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806465	0.70682	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.66995	-0.24;-0.24;-0.24	5.81	3.71	0.42584	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.90922	3.16	0.80722	D	1	D;P;D	0.56287	0.968;0.938;0.975	P;P;P	0.62089	0.885;0.898;0.898	D	0.86154	0.1589	10	0.87932	D	0	-18.2823	11.9373	0.52880	0.2333:0.0:0.7667:0.0	.	399;380;380	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	N	380;380;399	ENSP00000419038:K380N;ENSP00000418755:K380N;ENSP00000264263:K399N	ENSP00000264263:K399N	K	+	3	2	GFM1	159859461	0.997000	0.39634	1.000000	0.80357	0.956000	0.61745	0.337000	0.19841	1.461000	0.47929	0.655000	0.94253	AAG			0.443	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352271.1		NM_024996		T	158376767	G	T	158376767	3	4	18	1	0	0	0	0	1	0	0	0	6355	991	35	3	1174	3	GFM1	3	158376767	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	31642720	158376767	39645663	18	1118											
KLB	152831	bcgsc.ca	37	chr4	39448347	39448347	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaacccatcgacggcCgaggccttccaggcctacgc	7	6	12	16	4	0	1	0	1	0	0	2	3	1	1	5	4	2	1	5	4	2	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr4:39448347C>A	ENST00000257408.4	+	4	2098	c.2001C>A	c.(1999-2001)gcC>gcA	p.A667A		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	667	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CATCGACGGCCGAGGCCTTCC	0.627																																					p.A667A													.	KLB	95		0			c.C2001A												53	54	53					4																	39448347		2202	4300	6502	SO:0001819	synonymous_variant	152831	exon4			GACGGCCGAGGCC	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2001C>A	4.37:g.39448347C>A			34	0	0		42	0.1	4	NM_175737	0		0	Q2M3K8	Silent	SNP	ENST00000257408.4	37	CCDS3451.1																																																																																					0.627	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250429.1		NM_175737		A	39448347	C	A	39448347	2	1	18	1	0	0	0	0	0	0	0	1	8347	639	23	1		1	KLB	4	39448347	Silent	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10		39448347	151705929	19	1119											
BMP2K	55589	broad.mit.edu	37	chr4	79793947	79793947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggactcctcctatagtgcCaataggcaagtatttttcca	11	13	7	10	0	0	0	0	0	0	0	3	1	3	1	4	2	1	2	4	2	6	6			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr4:79793947C>T	ENST00000335016.5	+	13	1954	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	BMP2K_ENST00000502871.1_Silent_p.A596A	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	596					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CCTATAGTGCCAATAGGCAAG	0.403																																					p.A596A													.	BMP2K	169		0			c.C1788T												86	88	87					4																	79793947		2203	4300	6503	SO:0001819	synonymous_variant	55589	exon13			TAGTGCCAATAGG	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1788C>T	4.37:g.79793947C>T			154	0	0		109	0.05	5	NM_017593	3	0	0	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	C	7.062	0.566522	0.13560	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.54	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.0401	12.2501	0.54593	0.3763:0.6237:0.0:0.0	.	.	.	.	X	289	.	.	Q	+	1	0	BMP2K	80012971	0.999000	0.42202	1.000000	0.80357	0.608000	0.37181	1.067000	0.30616	1.434000	0.47414	0.591000	0.81541	CAA			0.403	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_017593		T	79793947	C	T	79793947	2	4	18	1	0	0	0	0	0	0	0	1	1460	581	21	3		3	BMP2K	4	79793947	Silent	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	40345600	79793947	111360329	20	1120											
CYP2U1	113612	mdanderson.org	37	chr4	108853024	108853024	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcaacttcggtcacgtGctgctgcctcccttcctccg	3	11	11	16	3	1	0	1	0	0	0	5	0	4	0	4	2	4	3	4	2	1	2	rs145192019		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr4:108853024G>T	ENST00000332884.6	+	1	500	c.225G>T	c.(223-225)gtG>gtT	p.V75V	CYP2U1_ENST00000513302.1_3'UTR|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_5'UTR	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	75					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)		TCGGTCACGTGCTGCTGCCTC	0.731																																					p.V75V													.	.			0			c.G225T												7	9	8					4																	108853024		1990	3864	5854	SO:0001819	synonymous_variant	113612	exon1			TCACGTGCTGCTG	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.225G>T	4.37:g.108853024G>T			39	0	0		20	0.1	2	NM_183075	1	0	0	B2RMV7|Q96EQ6	Silent	SNP	ENST00000332884.6	37	CCDS34047.1																																																																																					0.731	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363691.2		NM_183075		T	108853024	G	T	108853024	2	4	18	1	0	0	0	0	0	0	0	1	4177	1306	46	2		2	CYP2U1	4	108853024	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	29059077	108853024	82301252	21	1121											
TAS2R1	50834	mdanderson.org	37	chr5	9629567	9629567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatcaagagcaaaacaGcaaaaaggaagataagcaat	25	3	8	5	0	1	3	1	0	0	3	1	4	1	4	0	1	4	3	0	1	10	1	rs185412063	byFrequency	TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr5:9629567G>T	ENST00000382492.2	-	1	896	c.578C>A	c.(577-579)gCt>gAt	p.A193D	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	193					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGCAAAACAGCAAAAAGGAA	0.483													G|||	3	0.000599042	0	0.0029	5008	,	,		18287	0		0.001	False		,,,				2504	0				p.A193D													.	.			0			c.C578A							G	ASP/ALA	0,4406		0,0,2203	60	68	65		578	4.8	0	5		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAS2R1	NM_019599.2	126	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	193/300	9629567	1,13005	2203	4300	6503	SO:0001583	missense	50834	exon1			AAAACAGCAAAAA	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.578C>A	5.37:g.9629567G>T	ENSP00000371932:p.Ala193Asp		57	0	0		44	0.07	3	NM_019599	0		0	Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	17.21	3.332262	0.60853	0.0	1.16E-4	ENSG00000169777	ENST00000382492	T	0.38401	1.14	5.65	4.78	0.61160	.	0.337773	0.27315	N	0.019933	T	0.48624	0.1510	M	0.76574	2.34	0.09310	N	1	D	0.64830	0.994	D	0.66497	0.944	T	0.49283	-0.8956	9	.	.	.	.	12.1257	0.53915	0.0815:0.0:0.9185:0.0	.	193	Q9NYW7	TA2R1_HUMAN	D	193	ENSP00000371932:A193D	.	A	-	2	0	TAS2R1	9682567	0.478000	0.25917	0.004000	0.12327	0.004000	0.04260	4.501000	0.60393	1.620000	0.50308	0.655000	0.94253	GCT	0.001		0.483	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206988.2				T	9629567	G	T	9629567	3	4	18	1	0	0	0	0	1	0	0	0	15588	971	34	2	325	2	TAS2R1	5	9629567	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		9629567	171285693	22	1122											
SLC23A1	9963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	138713761	138713761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggttgcgagaggagttCatgtccacaaattgcaggtt	12	10	13	6	1	1	2	1	0	0	2	2	4	2	3	1	3	2	4	1	3	2	4			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr5:138713761C>T	ENST00000348729.3	-	12	1402	c.1356G>A	c.(1354-1356)atG>atA	p.M452I	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Missense_Mutation_p.M456I	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	452				DM -> AL (in Ref. 1; AAC78804). {ECO:0000305}.	brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|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)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GAGAGGAGTTCATGTCCACAA	0.562																																					p.M456I													.	.			0			c.G1368A												93	78	83					5																	138713761		2203	4300	6503	SO:0001583	missense	9963	exon12			GGAGTTCATGTCC	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1356G>A	5.37:g.138713761C>T	ENSP00000302701:p.Met452Ile		76	0	0		83	0.17	14	NM_152685	1	0	0	O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691140	0.68271	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881	T;T	0.16743	2.32;2.32	5.3	5.3	0.74995	.	0.086008	0.85682	D	0.000000	T	0.17874	0.0429	L	0.38733	1.17	0.50467	D	0.999872	B;B	0.31752	0.121;0.338	B;B	0.35971	0.215;0.187	T	0.02288	-1.1182	10	0.72032	D	0.01	0.2453	14.3748	0.66867	0.0:0.8522:0.1478:0.0	.	452;456	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	I	456;452;113	ENSP00000302851:M456I;ENSP00000302701:M452I	ENSP00000343584:M113I	M	-	3	0	SLC23A1	138741660	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.520000	0.45554	2.763000	0.94921	0.561000	0.74099	ATG			0.562	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000374185.1		NM_152685		T	138713761	C	T	138713761	3	4	18	1	0	0	0	0	1	0	0	0	14485	826	29	3	452	3	SLC23A1	5	138713761	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	129084194	138713761	42201499	23	1123											
PCDHB13	56123	mdanderson.org	37	chr5	140595340	140595340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggcgctggtgcgcGtggtggtgctggacgccaac	5	6	19	11	5	0	0	0	0	0	0	0	2	0	1	1	5	4	3	1	5	1	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr5:140595340G>T	ENST00000341948.4	+	1	1832	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	549	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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCGCGTGGTGGTGCT	0.716																																					p.V549L													PCDHB13,NS,neuroblastoma,-2,1	PCDHB13	-2	1	0			c.G1645T												34	38	37					5																	140595340		2202	4298	6500	SO:0001583	missense	56123	exon1			GTGCGCGTGGTGG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1645G>T	5.37:g.140595340G>T	ENSP00000345491:p.Val549Leu		24	0	0		44	0.07	3	NM_018933	1	0	0	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	14.79	2.641360	0.47153	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.61040	0.14	3.0	-0.23	0.13090	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.45316	0.1336	L	0.46614	1.455	0.09310	N	0.999999	P	0.42203	0.773	P	0.44561	0.453	T	0.28459	-1.0043	9	0.20046	T	0.44	.	1.3841	0.02236	0.2837:0.1441:0.4253:0.1468	.	549	Q9Y5F0	PCDBD_HUMAN	L	549;549;495	ENSP00000345491:V549L	ENSP00000345491:V549L	V	+	1	0	PCDHB13	140575524	0.425000	0.25498	0.040000	0.18447	0.002000	0.02628	0.600000	0.24104	-0.204000	0.10235	-0.556000	0.04195	GTG			0.716	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251810.1		NM_018933		T	140595340	G	T	140595340	3	4	18	1	0	0	0	0	1	0	0	0	11555	1145	40	1	1647	1	PCDHB13	5	140595340	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	1881579	140595340	40319920	24	1124											
PCDHGA9	56107	bcgsc.ca;mdanderson.org	37	chr5	140782626	140782626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagattcgctactcagtgcCtgaagagacagaaaagggct	13	8	11	9	1	2	4	2	1	0	3	3	5	2	4	1	1	2	2	1	1	4	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr5:140782626C>A	ENST00000573521.1	+	1	107	c.107C>A	c.(106-108)cCt>cAt	p.P36H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCAGTGCCTGAAGAGACA	0.592																																					p.P36H													.	PCDHGA9	110		0			c.C107A												59	69	65					5																	140782626		2096	4258	6354	SO:0001583	missense	56107	exon1			CAGTGCCTGAAGA	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.107C>A	5.37:g.140782626C>A	ENSP00000460274:p.Pro36His		78	0	0		103	0.05	5	NM_032089	0		0	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																					0.592	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437105.1		NM_018921		A	140782626	C	A	140782626	3	1	18	1	0	0	0	0	1	0	0	0	11578	681	24	3	109	3	PCDHGA9	5	140782626	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	187286	140782626	40132634	25	1125											
IRF4	3662	broad.mit.edu;bcgsc.ca	37	chr6	393255	393255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgaccagatcgacagcGgcaagtaccccgggctggtg	9	6	14	12	4	0	2	0	1	0	1	2	4	0	2	3	3	2	3	3	3	2	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr6:393255G>T	ENST00000380956.4	+	2	229	c.103G>T	c.(103-105)Ggc>Tgc	p.G35C	IRF4_ENST00000495137.1_Intron	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	35					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)		GATCGACAGCGGCAAGTACCC	0.667			T	IGH@	MM																																p.G35C				Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65		0			c.G103T												35	35	35					6																	393255		2201	4298	6499	SO:0001583	missense	3662	exon2			GACAGCGGCAAGT	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.103G>T	6.37:g.393255G>T	ENSP00000370343:p.Gly35Cys		127	0.0078740157	1		149	0.16	24	NM_001195286	5	0	0	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386498	0.82902	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.98150	-4.75	4.58	4.58	0.56647	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.098877	0.64402	D	0.000001	D	0.98207	0.9407	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.981	D	0.98314	1.0525	10	0.54805	T	0.06	-28.3311	12.1244	0.53909	0.0829:0.0:0.9171:0.0	.	35;35;35	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	C	35;65	ENSP00000370343:G35C	ENSP00000370343:G35C	G	+	1	0	IRF4	338255	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.841000	0.69409	2.399000	0.81585	0.306000	0.20318	GGC			0.667	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043638.1				T	393255	G	T	393255	3	4	18	1	0	0	0	0	1	0	0	0	7847	1116	39	1	105	1	IRF4	6	393255	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		393255	170721812	26	1126											
BAT3	7917	mdanderson.org	37	chr6	31610608	31610608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagccagccactcacctGcaagaagtcagtcatgcctt	11	7	9	14	0	3	1	3	0	0	1	3	1	3	1	4	1	4	2	4	1	3	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr6:31610608G>T	ENST00000375964.6	-	14	2264	c.1951C>A	c.(1951-1953)Cag>Aag	p.Q651K	BAG6_ENST00000404765.2_Missense_Mutation_p.Q681K|BAG6_ENST00000211379.5_Missense_Mutation_p.Q645K|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000375976.4_Missense_Mutation_p.Q645K|BAG6_ENST00000362049.6_Missense_Mutation_p.Q645K	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	651	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCACTCACCTGCAAGAAGTCA	0.592																																					p.Q651K													.	.			0			c.C1951A												30	24	26					6																	31610608		2203	4300	6503	SO:0001583	missense	7917	exon14			TCACCTGCAAGAA	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1951C>A	6.37:g.31610608G>T	ENSP00000365131:p.Gln651Lys		18	0	0		33	0.09	3	NM_004639	156	0	0	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888626	0.91814	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000362049;ENST00000437771	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.34521	1.04	0.80722	D	1	D;P;P	0.61080	0.989;0.865;0.811	D;P;P	0.67725	0.953;0.824;0.879	T	0.40270	-0.9572	10	0.51188	T	0.08	.	18.4089	0.90545	0.0:0.0:1.0:0.0	.	645;651;645	F8VXY4;P46379;P46379-2	.;BAG6_HUMAN;.	K	645;651;645;681;645;681	ENSP00000365143:Q645K;ENSP00000365131:Q651K;ENSP00000211379:Q645K;ENSP00000384494:Q681K;ENSP00000354875:Q645K;ENSP00000397978:Q681K	ENSP00000211379:Q645K	Q	-	1	0	BAG6	31718587	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.135000	0.89608	2.647000	0.89833	0.558000	0.71614	CAG			0.592	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_080703		T	31610608	G	T	31610608	3	4	18	1	0	0	0	0	1	0	0	0	1322	1328	46	2	1495	2	BAT3	6	31610608	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	31217353	31610608	139504459	27	1127											
DDAH2	23564	broad.mit.edu	37	chr6	31695404	31695404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacgaagaaagagacaGtcagcagctgcgtcatctgg	13	5	13	10	2	3	2	2	0	1	2	3	5	3	3	1	2	3	2	1	2	2	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr6:31695404G>T	ENST00000375789.2	-	5	1287	c.657C>A	c.(655-657)gaC>gaA	p.D219E	DDAH2_ENST00000375787.2_Missense_Mutation_p.D219E|DDAH2_ENST00000375792.3_Missense_Mutation_p.D219E|DDAH2_ENST00000480913.1_5'UTR			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	219					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GAAAGAGACAGTCAGCAGCTG	0.587																																					p.D219E													.	DDAH2	15		0			c.C657A												183	157	166					6																	31695404		1511	2709	4220	SO:0001583	missense	23564	exon6			GAGACAGTCAGCA	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.657C>A	6.37:g.31695404G>T	ENSP00000364945:p.Asp219Glu		54	0	0		71	0.04	3	NM_013974	162	0	0	A2BEZ7	Missense_Mutation	SNP	ENST00000375789.2	37	CCDS4718.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983233	0.74474	.	.	ENSG00000213722	ENST00000437288;ENST00000375789;ENST00000375787;ENST00000375792;ENST00000416410;ENST00000436437	.	.	.	5.0	2.21	0.28008	.	0.051405	0.85682	D	0.000000	T	0.23886	0.0578	L	0.36672	1.1	0.32868	D	0.508817	P	0.36587	0.559	B	0.42959	0.403	T	0.07790	-1.0754	9	0.62326	D	0.03	-30.484	7.0206	0.24912	0.3641:0.0:0.6359:0.0	.	219	O95865	DDAH2_HUMAN	E	108;219;219;219;219;219	.	ENSP00000364943:D219E	D	-	3	2	DDAH2	31803383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.577000	0.46042	0.695000	0.31675	0.655000	0.94253	GAC			0.587	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076432.2				T	31695404	G	T	31695404	3	4	18	1	0	0	0	0	1	0	0	0	4324	1020	36	3	208	3	DDAH2	6	31695404	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	84796	31695404	139419663	28	1128											
MDGA1	266727	mdanderson.org	37	chr6	37611668	37611668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggggactcactaaccttGcacggtcccccagctcccga	9	6	10	16	2	1	1	1	0	0	1	3	3	3	2	4	3	3	2	4	3	1	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr6:37611668G>T	ENST00000434837.3	-	14	3631	c.2453C>A	c.(2452-2454)gCa>gAa	p.A818E	MDGA1_ENST00000505425.1_Missense_Mutation_p.A818E|MDGA1_ENST00000297153.7_Missense_Mutation_p.A822E|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	818	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACTAACCTTGCACGGTCCCC	0.587																																					p.A818E													.	.			0			c.C2453A												77	84	81					6																	37611668		2066	4204	6270	SO:0001583	missense	266727	exon14			AACCTTGCACGGT	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2453C>A	6.37:g.37611668G>T	ENSP00000402584:p.Ala818Glu		62	0	0		50	0.06	3	NM_153487	13	0	0	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.239898|4.239898	0.79912|0.79912	.|.	.|.	ENSG00000112139|ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425|ENST00000418178	T;T;T|.	0.03524|.	3.9;3.9;3.9|.	5.8|5.8	4.93|4.93	0.64822|0.64822	Concanavalin A-like lectin/glucanase (1);MAM domain (3);|.	0.000000|.	0.49916|.	D|.	0.000127|.	D|D	0.85008|0.85008	0.5599|0.5599	H|H	0.97440|0.97440	4.005|4.005	0.49687|0.49687	D|D	0.99981|0.99981	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.76575|.	0.988;0.986|.	D|D	0.89827|0.89827	0.3993|0.3993	10|5	0.87932|.	D|.	0|.	.|.	12.4709|12.4709	0.55785|0.55785	0.0769:0.0:0.9231:0.0|0.0769:0.0:0.9231:0.0	.|.	818;818|.	Q8NFP4-2;Q8NFP4|.	.;MDGA1_HUMAN|.	E|K	818;822;818|128	ENSP00000402584:A818E;ENSP00000297153:A822E;ENSP00000422042:A818E|.	ENSP00000297153:A822E|.	A|Q	-|-	2|1	0|0	MDGA1|MDGA1	37719646|37719646	1.000000|1.000000	0.71417|0.71417	0.053000|0.053000	0.19242|0.19242	0.788000|0.788000	0.44548|0.44548	9.593000|9.593000	0.98250|0.98250	1.451000|1.451000	0.47736|0.47736	0.655000|0.655000	0.94253|0.94253	GCA|CAA			0.587	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040419.3				T	37611668	G	T	37611668	3	4	18	1	0	0	0	0	1	0	0	0	9422	1319	46	2	430	2	MDGA1	6	37611668	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	5916264	37611668	133503399	29	1129											
PM20D2	135293	mdanderson.org	37	chr6	89862893	89862893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcaaatgaaaccaacctGgagagttcatggtatgaatg	16	8	10	7	0	1	3	1	2	0	1	1	4	1	3	2	2	3	3	2	2	5	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr6:89862893G>T	ENST00000275072.4	+	3	841	c.746G>T	c.(745-747)tGg>tTg	p.W249L		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	249						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AAACCAACCTGGAGAGTTCAT	0.353																																					p.W249L													.	.			0			c.G746T												92	85	88					6																	89862893		2203	4300	6503	SO:0001583	missense	135293	exon3			CAACCTGGAGAGT	BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.746G>T	6.37:g.89862893G>T	ENSP00000275072:p.Trp249Leu		45	0	0		45	0.07	3	NM_001010853	2	0	0	B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572285	0.86542	.	.	ENSG00000146281	ENST00000275072	T	0.50548	0.74	5.57	5.57	0.84162	Peptidase M20, dimerisation (2);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.64080	1.96	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.47548	-0.9109	10	0.10111	T	0.7	-6.1722	19.5579	0.95358	0.0:0.0:1.0:0.0	.	249	Q8IYS1	P20D2_HUMAN	L	249	ENSP00000275072:W249L	ENSP00000275072:W249L	W	+	2	0	PM20D2	89919612	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.916000	0.92745	2.624000	0.88883	0.655000	0.94253	TGG			0.353	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041477.1		NM_001010853		T	89862893	G	T	89862893	3	4	18	1	0	0	0	0	1	0	0	0	12146	1357	47	3	756	3	PM20D2	6	89862893	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	52251225	89862893	81252174	30	1130											
C6orf174	387104	mdanderson.org	37	chr6	127836914	127836914	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctactgctgccgccgccGttcttagcgtgcatctgagc	4	10	12	15	5	2	1	0	1	2	0	2	1	2	1	3	1	6	4	3	1	2	3			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr6:127836914G>A	ENST00000525778.1	-	2	1591	c.846C>T	c.(844-846)aaC>aaT	p.N282N	SOGA3_ENST00000368268.2_Silent_p.N282N|SOGA3_ENST00000465909.2_Silent_p.N282N|SOGA3_ENST00000556132.1_Silent_p.N282N|SOGA3_ENST00000481848.2_Silent_p.N282N			Q5TF21	SOGA3_HUMAN	SOGA family member 3	282					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGCCGCCGCCGTTCTTAGCGT	0.692																																					p.N282N													.	.			0			c.C846T												10	14	13					6																	127836914		1549	3636	5185	SO:0001819	synonymous_variant	387104	exon2			GCCGCCGTTCTTA	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.846C>T	6.37:g.127836914G>A			21	0	0		16	0.13	2	NM_001012279	0		0		Silent	SNP	ENST00000525778.1	37	CCDS43505.1																																																																																					0.692	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388246.1		NM_001012279		A	127836914	G	A	127836914	2	1	18	1	0	0	0	0	0	0	0	1	2347	1136	40	1		1	C6orf174	6	127836914	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	37974021	127836914	43278153	31	1131											
MEOX2	4223	mdanderson.org	37	chr7	15725827	15725827	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtggtggtggtggtggtgCcccctgtgatgctggctggc	1	12	20	8	0	0	1	0	1	0	0	0	1	0	1	2	8	2	2	2	8	0	0	rs372066707|rs374499365		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr7:15725827C>A	ENST00000262041.5	-	1	610	c.201G>T	c.(199-201)ggG>ggT	p.G67G	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	67					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ggtggtggtgCCCCCTGTGAT	0.577																																					p.G67G	Esophageal Squamous(140;197 1769 16409 18257 29929)												.	.			0			c.G201T												34	33	33					7																	15725827		2203	4300	6503	SO:0001819	synonymous_variant	4223	exon1			GTGGTGCCCCCTG		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.201G>T	7.37:g.15725827C>A			38	0	0		53	0.06	3	NM_005924	1	0	0	B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	CCDS34605.1																																																																																					0.577	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326058.2		NM_005924		A	15725827	C	A	15725827	2	1	18	1	0	0	0	0	0	0	0	1	9490	726	26	2		2	MEOX2	7	15725827	Silent	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10		15725827	143412836	32	1132											
DGKI	9162	broad.mit.edu;mdanderson.org	37	chr7	137266651	137266651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatccaaggctgaagtaGttattgaaaacattcagagg	16	10	9	6	0	2	3	2	2	0	1	3	3	3	3	1	2	1	3	1	2	7	4			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr7:137266651G>T	ENST00000288490.5	-	15	1587	c.1587C>A	c.(1585-1587)aaC>aaA	p.N529K	DGKI_ENST00000446122.1_Missense_Mutation_p.N529K|DGKI_ENST00000424189.2_Missense_Mutation_p.N529K|DGKI_ENST00000453654.2_Missense_Mutation_p.N229K	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	529					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGCTGAAGTAGTTATTGAAAA	0.443																																					p.N529K													DGKI_ENST00000288490,NS,carcinoma,0,2	DGKI	335	2	0			c.C1587A												113	112	112					7																	137266651		2203	4299	6502	SO:0001583	missense	9162	exon15			GAAGTAGTTATTG	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1587C>A	7.37:g.137266651G>T	ENSP00000288490:p.Asn529Lys		44	0	0		50	0.06	3	NM_004717	1	0	0	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.662094	0.67700	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.66099	-0.19;-0.19;-0.19	5.6	-0.604	0.11626	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.79736	0.4497	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80670	-0.1279	10	0.87932	D	0	.	10.7483	0.46194	0.4866:0.0:0.5134:0.0	.	229;529	E9PFX6;O75912	.;DGKI_HUMAN	K	229;477;529;529;529	ENSP00000392161:N229K;ENSP00000288490:N529K;ENSP00000399131:N529K	ENSP00000288490:N529K	N	-	3	2	DGKI	136917191	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.938000	0.40203	-0.052000	0.13311	-0.312000	0.09012	AAC			0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341286.3		NM_004717		T	137266651	G	T	137266651	3	4	18	1	0	0	0	0	1	0	0	0	4476	1020	36	3	1690	3	DGKI	7	137266651	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	121540824	137266651	21872012	33	1133											
TRIM24	8805	mdanderson.org	37	chr7	138266446	138266446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatttttgcttagaagtGtgagcgcctacttttatttc	8	20	7	6	1	0	2	0	1	0	1	1	2	0	2	1	0	3	1	1	0	5	9			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr7:138266446G>T	ENST00000343526.4	+	17	2938	c.2723G>T	c.(2722-2724)tGt>tTt	p.C908F	TRIM24_ENST00000415680.2_Missense_Mutation_p.C874F			O15164	TIF1A_HUMAN	tripartite motif containing 24	908					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						GCTTAGAAGTGTGAGCGCCTA	0.323																																					p.C908F	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												.	.			0			c.G2723T												86	87	86					7																	138266446		2203	4300	6503	SO:0001583	missense	8805	exon17			AGAAGTGTGAGCG	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.2723G>T	7.37:g.138266446G>T	ENSP00000340507:p.Cys908Phe		40	0	0		44	0.07	3	NM_015905	118	0	0	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629662	0.87660	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.35973	1.28;1.28	5.78	5.78	0.91487	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78555	-0.2159	10	0.87932	D	0	-12.4153	19.9704	0.97284	0.0:0.0:1.0:0.0	.	908;874	O15164;O15164-2	TIF1A_HUMAN;.	F	908;819;874	ENSP00000340507:C908F;ENSP00000390829:C874F	ENSP00000340507:C908F	C	+	2	0	TRIM24	137916986	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.082000	0.94059	2.894000	0.99253	0.591000	0.81541	TGT			0.323	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341814.1		NM_015905		T	138266446	G	T	138266446	3	4	18	1	0	0	0	0	1	0	0	0	16522	1377	48	3	2789	3	TRIM24	7	138266446	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	999795	138266446	20872217	34	1134											
PARP12	64761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	139756947	139756947	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcctttgttgtaatgttGgcaaatctgttgacagagag	10	15	10	6	0	2	2	0	1	2	1	3	3	2	2	1	1	0	5	1	1	2	5			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr7:139756947G>A	ENST00000263549.3	-	3	1342	c.469C>T	c.(469-471)Caa>Taa	p.Q157*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	157						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)					TTGTAATGTTGGCAAATCTGT	0.498																																					p.Q157X													.	.			0			c.C469T												82	90	87					7																	139756947		2203	4300	6503	SO:0001587	stop_gained	64761	exon3			AATGTTGGCAAAT	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.469C>T	7.37:g.139756947G>A	ENSP00000263549:p.Gln157*		44	0	0		40	0.28	11	NM_022750	29	0.1	3	Q9H610|Q9NP36|Q9NTI3	Nonsense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255208	0.95336	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.61	3.66	0.41972	.	0.658913	0.15735	N	0.247229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	3.2471	0.06801	0.1471:0.2549:0.4681:0.1298	.	.	.	.	X	157	.	ENSP00000263549:Q157X	Q	-	1	0	PARP12	139403416	0.082000	0.21442	0.998000	0.56505	0.952000	0.60782	0.221000	0.17680	1.348000	0.45733	0.544000	0.68410	CAA			0.498	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348413.1		NM_022750		A	139756947	G	A	139756947	4	1	18	1	0	0	0	0	0	1	0	0	11474	1357	47	3	1676	3	PARP12	7	139756947	Nonsense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	1490501	139756947	19381716	35	1135											
LAPTM4B	55353	mdanderson.org	37	chr8	98817595	98817595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagatcatcaatgctgtGgtactgttgattttattgag	9	17	10	5	0	2	3	2	2	0	1	2	3	2	3	0	1	3	4	0	1	3	6			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr8:98817595G>T	ENST00000521545.2	+	2	348	c.114G>T	c.(112-114)gtG>gtT	p.V38V	LAPTM4B_ENST00000445593.2_Silent_p.V129V			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	182					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TCAATGCTGTGGTACTGTTGA	0.373																																					p.V129V													.	.			0			c.G387T												140	131	134					8																	98817595		2203	4300	6503	SO:0001819	synonymous_variant	55353	exon2			TGCTGTGGTACTG	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.114G>T	8.37:g.98817595G>T			27	0	0		53	0.06	3	NM_018407	578	0	0	Q3ZCV5|Q7L909|Q86VH8|Q9H060	Silent	SNP	ENST00000521545.2	37		.	.	.	.	.	.	.	.	.	.	G	9.756	1.168726	0.21621	.	.	ENSG00000104341	ENST00000517924	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	T	0.71634	0.3363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70498	-0.4855	4	.	.	.	-27.2339	15.7363	0.77846	0.0:0.0:1.0:0.0	.	.	.	.	L	92	.	.	W	+	2	0	LAPTM4B	98886771	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.235000	0.65348	2.517000	0.84864	0.655000	0.94253	TGG			0.373	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000380016.2				T	98817595	G	T	98817595	2	4	18	1	0	0	0	0	0	0	0	1	8640	1335	47	3		3	LAPTM4B	8	98817595	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		98817595	47546427	36	1136											
TRPS1	7227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	116599271	116599271	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggacttgttttctcccGatgcaggatactgctggggg	5	13	13	10	1	1	0	0	0	1	0	2	3	1	2	2	4	3	3	2	4	1	5	rs142472404		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr8:116599271G>T	ENST00000220888.5	-	4	2777	c.2618C>A	c.(2617-2619)tCg>tAg	p.S873*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.S877*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.S886*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.S627*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.S873*			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	873					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)			GTTTTCTCCCGATGCAGGATA	0.507									Langer-Giedion syndrome																												p.S886X													.	.			0			c.C2657A												54	55	54					8																	116599271		1826	4075	5901	SO:0001587	stop_gained	7227	exon5	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	TCTCCCGATGCAG	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.2618C>A	8.37:g.116599271G>T	ENSP00000220888:p.Ser873*		59	0	0		67	0.13	9	NM_014112	1	0	0	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	G	39	7.456281	0.98296	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	.	.	.	5.76	5.76	0.90799	.	0.321665	0.29806	N	0.011152	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	.	.	.	X	886;873;627;877;873	.	ENSP00000220888:S873X	S	-	2	0	TRPS1	116668446	0.996000	0.38824	0.043000	0.18650	0.489000	0.33432	7.780000	0.85658	2.726000	0.93360	0.655000	0.94253	TCG			0.507	TRPS1-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000286436.3		NM_014112		T	116599271	G	T	116599271	4	4	18	1	0	0	0	0	0	1	0	0	16617	1059	37	1	1239	1	TRPS1	8	116599271	Nonsense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	17781676	116599271	29764751	37	1137											
APBA1	320	hgsc.bcm.edu	37	chr9	72064657	72064657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggggaggatggatccccagCcagactccacaatcaccaca	12	5	10	14	0	1	1	1	0	0	1	3	4	3	4	5	4	1	0	5	4	1	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr9:72064657C>T	ENST00000265381.4	-	10	2246	c.2024G>A	c.(2023-2025)gGc>gAc	p.G675D		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	675	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						GGATCCCCAGCCAGACTCCAC	0.488																																					p.G675D													.	.			0			c.G2024A												92	82	85					9																	72064657		2203	4300	6503	SO:0001583	missense	320	exon10			CCCCAGCCAGACT	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.2024G>A	9.37:g.72064657C>T	ENSP00000265381:p.Gly675Asp		75	0	0		88	0.05	4	NM_001163	2	0	0	O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198472	0.94997	.	.	ENSG00000107282	ENST00000265381	T	0.39592	1.07	5.78	5.78	0.91487	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78117	-0.2329	10	0.87932	D	0	-24.7241	20.0124	0.97464	0.0:1.0:0.0:0.0	.	675	Q02410	APBA1_HUMAN	D	675	ENSP00000265381:G675D	ENSP00000265381:G675D	G	-	2	0	APBA1	71254477	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.749000	0.94314	0.655000	0.94253	GGC			0.488	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052589.2		NM_001163		T	72064657	C	T	72064657	3	4	18	1	0	0	0	0	1	0	0	0	756	739	26	2	505	2	APBA1	9	72064657	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10		72064657	69148774	38	1138											
SEMA4D	10507	hgsc.bcm.edu;mdanderson.org	37	chr9	91994111	91994111	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggtgggcgcaggcttGggaggaagggtgatggcccc	5	6	21	9	2	0	1	0	1	0	0	0	3	0	3	3	7	1	2	3	7	1	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr9:91994111G>T	ENST00000450295.1	-	16	2873	c.2097C>A	c.(2095-2097)ccC>ccA	p.P699P	SEMA4D_ENST00000422704.2_Silent_p.P699P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000438547.2_Silent_p.P699P|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Silent_p.P699P|SEMA4D_ENST00000420987.1_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	699					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCGCAGGCTTGGGAGGAAGGG	0.602																																					p.P699P													.	.			0			c.C2097A												68	70	69					9																	91994111		2203	4300	6503	SO:0001819	synonymous_variant	10507	exon18			AGGCTTGGGAGGA	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2097C>A	9.37:g.91994111G>T			67	0	0		60	0.07	4	NM_006378	77	0	0	B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	CCDS6685.1																																																																																					0.602	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342411.1		NM_006378		T	91994111	G	T	91994111	2	4	18	1	0	0	0	0	0	0	0	1	14057	1335	47	3		3	SEMA4D	9	91994111	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	19929454	91994111	49219320	39	1139											
KIAA1958	158405	mdanderson.org	37	chr9	115421828	115421828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgaggaggagatgtggcagGcagggtgtctgggggatgac	9	6	21	5	1	1	2	0	1	1	1	1	6	1	4	0	7	0	2	0	7	0	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr9:115421828G>T	ENST00000337530.6	+	4	1926	c.1630G>T	c.(1630-1632)Gca>Tca	p.A544S	KIAA1958_ENST00000536272.1_Missense_Mutation_p.A572S	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	544								p.A544T(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GATGTGGCAGGCAGGGTGTCT	0.582																																					p.A544S													KIAA1958,NS,carcinoma,0,1	KIAA1958	0	1	1	Substitution - Missense(1)	lung(1)	c.G1630T												54	51	52					9																	115421828		2203	4300	6503	SO:0001583	missense	158405	exon4			TGGCAGGCAGGGT	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.1630G>T	9.37:g.115421828G>T	ENSP00000336940:p.Ala544Ser		129	0	0		120	0.04	5	NM_133465	7	0	0	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	5.838	0.338855	0.11069	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.66	2.48	0.30137	.	.	.	.	.	T	0.12561	0.0305	N	0.03608	-0.345	0.19775	N	0.999956	B;B	0.12013	0.005;0.003	B;B	0.15870	0.014;0.004	T	0.33954	-0.9848	8	0.05436	T	0.98	.	5.4989	0.16817	0.4965:0.0:0.5035:0.0	.	572;544	B7ZKW6;Q8N8K9	.;K1958_HUMAN	S	544;572	.	ENSP00000336940:A544S	A	+	1	0	KIAA1958	114461649	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	2.797000	0.47877	0.769000	0.33313	0.655000	0.94253	GCA			0.582	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000053690.1		NM_133465		T	115421828	G	T	115421828	3	4	18	1	0	0	0	0	1	0	0	0	8279	1203	42	2	1640	2	KIAA1958	9	115421828	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	23427717	115421828	25791603	40	1140											
OR1L8	138881	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	125330483	125330485	+	In_Frame_Del	DEL	TCT	TCT	-																															acacccagcataggagatggTcttcttttctgacaggaagt																										TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	TCT	TCT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr9:125330483_125330485delTCT	ENST00000304865.2	-	1	353_355	c.272_274delAGA	c.(271-276)aagacc>acc	p.K91del		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	91						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(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TAGGAGATGGTCTTCTTTTCTGA	0.453																																					p.91_92del													.	OR1L8	90		0			c.273_275del																																									SO:0001651	inframe_deletion	138881	exon1			AGATGGTCTTCTT		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.272_274delAGA	9.37:g.125330486_125330488delTCT	ENSP00000306607:p.Lys91del		68	0	0		54	0.19	10	NM_001004454	0		0	A3KFM3|B9EIR6|Q6IF15|Q96R79	In_Frame_Del	DEL	ENST00000304865.2	37	CCDS35124.1																																																																																					0.453	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053939.1				-	125330485	TCT	-	125330483	7	5	18	1	0	1	0	1	0	0	0	0	10984	1667	58	0	659	0	OR1L8	9	125330483	In_Frame_Del	DEL	TCT	TCGA-2G-AAG0-01A-11D-A42Y-10	9908655	125330483	15882948	41	1141											
GFI1B	8328	mdanderson.org	37	chr9	135866307	135866307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaaaggccttcagccagaGctccaacctcatcacccaca	12	5	7	17	1	3	1	3	0	0	1	4	2	4	2	5	2	3	1	5	2	2	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr9:135866307G>T	ENST00000339463.3	+	11	1682	c.863G>T	c.(862-864)aGc>aTc	p.S288I	GFI1B_ENST00000372122.1_Missense_Mutation_p.S288I|GFI1B_ENST00000372123.1_Missense_Mutation_p.S242I|GFI1B_ENST00000372124.1_Missense_Mutation_p.S242I|GFI1B_ENST00000534944.1_Missense_Mutation_p.S242I|GFI1B_ENST00000450530.1_Missense_Mutation_p.S288I			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	288	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)		TTCAGCCAGAGCTCCAACCTC	0.647																																					p.S288I													.	.			0			c.G863T												100	82	88					9																	135866307		2203	4300	6503	SO:0001583	missense	8328	exon7			GCCAGAGCTCCAA	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.863G>T	9.37:g.135866307G>T	ENSP00000344782:p.Ser288Ile		58	0	0		45	0.07	3	NM_004188	0		0	O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149506	0.78001	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.31247	1.5;2.38;2.38;1.5;1.5;2.38	4.9	4.9	0.64082	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	0.51176	0.1659	L	0.52759	1.655	0.80722	D	1	D;D	0.65815	0.995;0.97	D;D	0.76071	0.987;0.95	T	0.53422	-0.8441	10	0.87932	D	0	-15.6879	17.4238	0.87521	0.0:0.0:1.0:0.0	.	242;288	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	I	242;288;288;242;242;288	ENSP00000361197:S242I;ENSP00000344782:S288I;ENSP00000409546:S288I;ENSP00000446134:S242I;ENSP00000361196:S242I;ENSP00000361195:S288I	ENSP00000344782:S288I	S	+	2	0	GFI1B	134856128	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.823000	0.86660	2.425000	0.82216	0.462000	0.41574	AGC			0.647	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393840.1		NM_004188		T	135866307	G	T	135866307	3	4	18	1	0	0	0	0	1	0	0	0	6354	971	34	2	885	2	GFI1B	9	135866307	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	10535824	135866307	5347124	42	1142											
RALGDS	5900	mdanderson.org	37	chr9	135984157	135984157	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggcatgttgagctgcacGtaggccaccagctgcttgag	7	9	13	12	1	0	2	0	2	0	0	0	2	0	2	3	2	4	7	3	2	1	3	rs531452456		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr9:135984157G>T	ENST00000372050.3	-	5	702	c.681C>A	c.(679-681)taC>taA	p.Y227*	RALGDS_ENST00000372047.3_Nonsense_Mutation_p.Y215*|RALGDS_ENST00000393157.3_Nonsense_Mutation_p.Y226*|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Nonsense_Mutation_p.Y198*|RALGDS_ENST00000393160.3_Nonsense_Mutation_p.Y172*|RALGDS_ENST00000542690.1_Nonsense_Mutation_p.Y298*	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	227	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGAGCTGCACGTAGGCCACCA	0.627			T	CIITA	"PMBL, Hodgkin Lymphona, "																																p.Y227X	Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	.	.			0			c.C681A												88	75	79					9																	135984157		2203	4300	6503	SO:0001587	stop_gained	5900	exon5			CTGCACGTAGGCC	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.681C>A	9.37:g.135984157G>T	ENSP00000361120:p.Tyr227*		47	0	0		38	0.08	3	NM_006266	29	0	0	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Nonsense_Mutation	SNP	ENST00000372050.3	37	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353227	0.95830	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	.	.	.	5.67	-8.31	0.01001	.	0.205241	0.34802	N	0.003677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6503	0.88162	0.6998:0.0:0.3002:0.0	.	.	.	.	X	227;215;172;226;298;198	.	ENSP00000361117:Y215X	Y	-	3	2	RALGDS	134973978	0.826000	0.29277	0.057000	0.19452	0.786000	0.44442	-0.131000	0.10482	-2.224000	0.00725	-1.814000	0.00607	TAC			0.627	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054837.1		NM_006266		T	135984157	G	T	135984157	4	4	18	1	0	0	0	0	0	1	0	0	13039	1140	40	1	2119	1	RALGDS	9	135984157	Nonsense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	117850	135984157	5229274	43	1143											
FRMD4A	55691	mdanderson.org	37	chr10	13698833	13698833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagacggcggcacggcccGcgcccttgtcgtgggcgccc	3	5	16	17	7	0	1	0	1	0	1	1	2	0	1	3	4	0	1	3	4	0	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr10:13698833G>T	ENST00000357447.2	-	22	3124	c.2756C>A	c.(2755-2757)gCg>gAg	p.A919E	FRMD4A_ENST00000378503.1_Missense_Mutation_p.A919E|FRMD4A_ENST00000358621.4_Missense_Mutation_p.A904E	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	919					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						GGCACGGCCCGCGCCCTTGTC	0.741																																					p.A919E													FRMD4A,colon,carcinoma,0,1	FRMD4A	0	1	0			c.C2756A												26	26	26					10																	13698833		2199	4291	6490	SO:0001583	missense	55691	exon22			CGGCCCGCGCCCT	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.2756C>A	10.37:g.13698833G>T	ENSP00000350032:p.Ala919Glu		20	0	0		18	0.11	2	NM_018027	0		0	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481978	0.26598	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83163	-1.69;-1.69;-1.69	3.26	3.26	0.37387	.	0.459802	0.23191	N	0.050903	T	0.68613	0.3020	N	0.08118	0	0.24690	N	0.993313	B	0.20459	0.045	B	0.22386	0.039	T	0.61978	-0.6951	10	0.45353	T	0.12	-4.5632	14.4754	0.67541	0.0:0.0:1.0:0.0	.	919	Q9P2Q2	FRM4A_HUMAN	E	904;919;919	ENSP00000351438:A904E;ENSP00000350032:A919E;ENSP00000367764:A919E	ENSP00000350032:A919E	A	-	2	0	FRMD4A	13738839	1.000000	0.71417	0.989000	0.46669	0.461000	0.32589	4.402000	0.59722	1.363000	0.46019	0.185000	0.17295	GCG			0.741	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000046889.1		NM_018027		T	13698833	G	T	13698833	3	4	18	1	0	0	0	0	1	0	0	0	6064	1087	38	1	375	1	FRMD4A	10	13698833	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		13698833	121835914	44	1144											
ARMC3	219681	broad.mit.edu	37	chr10	23270572	23270572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacaatgaagaggtacGggaagcagcagctctagccc	14	5	13	9	1	1	3	0	2	1	1	1	4	1	4	1	2	5	4	1	2	6	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr10:23270572G>A	ENST00000298032.5	+	10	1202	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q	ARMC3_ENST00000409049.3_Missense_Mutation_p.R373Q|ARMC3_ENST00000376528.4_Missense_Mutation_p.R110Q|ARMC3_ENST00000409983.3_Missense_Mutation_p.R373Q	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	373						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						GAAGAGGTACGGGAAGCAGCA	0.438																																					p.R373Q													.	ARMC3	102		0			c.G1118A												96	83	88					10																	23270572		2203	4300	6503	SO:0001583	missense	219681	exon10			AGGTACGGGAAGC	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.1118G>A	10.37:g.23270572G>A	ENSP00000298032:p.Arg373Gln		71	0.0281690141	2		44	0.2	9	NM_173081	0		0	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795586	0.31777	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.25	0.7	0.18099	Armadillo-like helical (1);Armadillo-type fold (1);	0.247257	0.45126	D	0.000391	T	0.16342	0.0393	N	0.17631	0.505	0.09310	N	0.999996	B;B	0.25007	0.116;0.043	B;B	0.27170	0.077;0.017	T	0.14559	-1.0468	10	0.37606	T	0.19	-25.2747	5.7172	0.17966	0.321:0.0:0.5391:0.14	.	373;373	Q5W041-4;Q5W041	.;ARMC3_HUMAN	Q	373;373;309;373;110	ENSP00000298032:R373Q;ENSP00000386943:R373Q;ENSP00000387288:R373Q;ENSP00000365711:R110Q	ENSP00000298032:R373Q	R	+	2	0	ARMC3	23310578	0.040000	0.19996	0.005000	0.12908	0.001000	0.01503	0.316000	0.19469	0.224000	0.20940	-0.918000	0.02743	CGG			0.438	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047197.2		NM_173081		A	23270572	G	A	23270572	3	1	18	1	0	0	0	0	1	0	0	0	952	1116	39	1	1152	1	ARMC3	10	23270572	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	9571739	23270572	112264175	45	1145											
RTKN2	219790	broad.mit.edu	37	chr10	63995874	63995874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcatcctcttcttgaaGcactgaacttattttctttc	8	19	3	11	0	5	2	2	2	3	0	7	2	6	2	1	0	2	1	1	0	3	7			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr10:63995874G>T	ENST00000373789.3	-	6	733	c.637C>A	c.(637-639)Ctt>Att	p.L213I	RTKN2_ENST00000315289.2_5'UTR|RTKN2_ENST00000395265.1_Missense_Mutation_p.L213I	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	213					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCTTCTTGAAGCACTGAACTT	0.333																																					p.L213I													.	RTKN2	68		0			c.C637A												171	148	156					10																	63995874		2203	4300	6503	SO:0001583	missense	219790	exon6			CTTGAAGCACTGA	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.637C>A	10.37:g.63995874G>T	ENSP00000362894:p.Leu213Ile		98	0	0		88	0.05	4	NM_145307	4	0	0	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376901	0.61735	.	.	ENSG00000182010	ENST00000395265;ENST00000373789	T;T	0.37752	1.21;1.18	5.56	3.64	0.41730	.	0.130862	0.53938	D	0.000055	T	0.48589	0.1508	M	0.79926	2.475	0.23855	N	0.996652	P	0.48503	0.911	P	0.52031	0.688	T	0.40794	-0.9544	10	0.45353	T	0.12	-6.5073	8.4332	0.32771	0.1406:0.128:0.7314:0.0	.	213	Q8IZC4	RTKN2_HUMAN	I	213	ENSP00000378682:L213I;ENSP00000362894:L213I	ENSP00000362894:L213I	L	-	1	0	RTKN2	63665880	0.866000	0.29940	0.633000	0.29310	0.972000	0.66771	2.207000	0.42788	1.336000	0.45506	0.491000	0.48974	CTT			0.333	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000091618.1		NM_145307		T	63995874	G	T	63995874	3	4	18	1	0	0	0	0	1	0	0	0	13746	971	34	2	1220	2	RTKN2	10	63995874	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	40725302	63995874	71538873	46	1146											
MUC2	4583	mdanderson.org	37	chr11	1093292	1093292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgacacccatcaccaccaCcactacggtgaccccaaccc	12	4	4	21	2	1	1	1	1	0	0	2	2	1	1	7	1	2	0	7	1	2	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr11:1093292C>T	ENST00000441003.2	+	30	5138	c.5111C>T	c.(5110-5112)aCc>aTc	p.T1704I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	atcaccaccaccactacggtg	0.637																																					p.T1704I													.	.			0			c.C5111T												107	156	138					11																	1093292		1878	3453	5331	SO:0001583	missense	4583	exon30			CCACCACCACTAC	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.5111C>T	11.37:g.1093292C>T	ENSP00000415183:p.Thr1704Ile		25	0.04	1		23	0.13	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.150	-0.394632	0.04899	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11063	2.81;2.84	1.6	-2.66	0.06077	.	2.760050	0.04005	U	0.297091	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36286	-0.9754	9	0.36615	T	0.2	.	2.477	0.04578	0.4942:0.3128:0.0:0.1931	.	1704	E7EUV1	.	I	1704;1671	ENSP00000415183:T1704I;ENSP00000351956:T1671I	ENSP00000351956:T1671I	T	+	2	0	MUC2	1083292	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.330000	0.19715	-0.514000	0.06488	0.184000	0.17185	ACC			0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1093292	C	T	1093292	3	4	18	1	0	0	0	0	1	0	0	0	9991	507	18	3	5229	3	MUC2	11	1093292	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10		1093292	133913224	47	1147											
NUMA1	10068	mdanderson.org	37	chr11	71715103	71715103	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgttccctagcttcttggGtgtgttgaggatgctgaagg	5	14	15	7	0	1	2	0	2	1	0	2	3	2	3	1	3	2	5	1	3	2	5			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr11:71715103G>A	ENST00000393703.4	+	0	1788				NUMA1_ENST00000351960.6_Missense_Mutation_p.P920S|NUMA1_ENST00000358965.6_Missense_Mutation_p.P2042S|NUMA1_ENST00000393695.3_Missense_Mutation_p.P2056S	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGCTTCTTGGGTGTGTTGAGG	0.642																																					p.P2056S													.	.			0			c.C6166T												95	107	103					11																	71715103		2200	4293	6493	SO:0001628	intergenic_variant	4926	exon26			TCTTGGGTGTGTT	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715103G>A			55	0	0		67	0.1	7	NM_006185	198	0.15	29	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975851	0.92982	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.34667	1.35;1.83;1.82	4.94	4.94	0.65067	.	0.000000	0.51477	D	0.000085	T	0.51143	0.1657	L	0.32530	0.975	0.49798	D	0.999826	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	0.54423	-0.8296	10	0.87932	D	0	.	17.9643	0.89096	0.0:0.0:1.0:0.0	.	2062;2042;2056;920	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	S	920;2042;2056;1605;1029	ENSP00000260051:P920S;ENSP00000351851:P2042S;ENSP00000377298:P2056S	ENSP00000260051:P920S	P	-	1	0	NUMA1	71392751	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.372000	0.79612	2.573000	0.86826	0.655000	0.94253	CCC			0.642	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000258012.2		NM_173042		A	71715103	G	A	71715103	1	1	18	0	1	0	0	0	0	0	0	0	10767	1261	44	3		3	NUMA1	11	71715103	IGR	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	70621811	71715103	63291413	48	1148											
DSCAML1	57453	mdanderson.org	37	chr11	117329471	117329471	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggcctggactcaccGtcctccttggtctggatgta	7	10	13	11	1	2	1	1	0	1	1	4	4	4	3	4	5	0	1	4	5	1	2	rs150682070		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr11:117329471G>T	ENST00000321322.6	-	19	3748	c.3747C>A	c.(3745-3747)gaC>gaA	p.D1249E	DSCAML1_ENST00000527706.1_Splice_Site_p.D979E	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1189	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TGGACTCACCGTCCTCCTTGG	0.637																																					p.D1249E													.	.			0			c.C3747A												83	67	72					11																	117329471		2201	4296	6497	SO:0001630	splice_region_variant	57453	exon19			CTCACCGTCCTCC		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.3748+1C>A	11.37:g.117329471G>T			29	0	0		23	0.13	3	NM_020693	0		0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445200	0.63178	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.54071	0.59;0.59	4.08	-6.6	0.01824	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56804	0.2010	M	0.83483	2.645	0.58432	D	0.999992	B	0.23442	0.085	B	0.35073	0.195	T	0.55698	-0.8100	9	0.87932	D	0	.	13.7157	0.62695	0.5973:0.0:0.4027:0.0	.	1189	Q8TD84	DSCL1_HUMAN	E	979;1249;956	ENSP00000434335:D979E;ENSP00000315465:D1249E	ENSP00000315465:D1249E	D	-	3	2	DSCAML1	116834681	0.908000	0.30866	0.810000	0.32431	0.882000	0.50991	0.035000	0.13797	-1.482000	0.01860	-0.463000	0.05309	GAC			0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392907.2		NM_020693	Missense_Mutation	T	117329471	G	T	117329471	5	4	18	1	0	0	0	0	0	0	1	0	4774	1159	40	1	2654	1	DSCAML1	11	117329471	Splice_Site	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	45614368	117329471	17677045	49	1149											
BSX	390259	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	122848423	122848423	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacctcgtcctctggctcGgtcagcacgaagggaccggc	6	7	12	16	4	2	0	1	0	1	0	6	2	4	1	4	4	1	2	4	4	1	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr11:122848423G>C	ENST00000343035.2	-	3	684	c.636C>G	c.(634-636)acC>acG	p.T212T		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	212					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		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;0.0361)		CCTCTGGCTCGGTCAGCACGA	0.726																																					p.T212T													.	.			0			c.C636G												23	26	25					11																	122848423		1930	4111	6041	SO:0001819	synonymous_variant	390259	exon3			TGGCTCGGTCAGC		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"Homeoboxes / ANTP class : NKL subclass"	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.636C>G	11.37:g.122848423G>C			39	0	0		30	0.27	8	NM_001098169	0		0		Silent	SNP	ENST00000343035.2	37	CCDS41728.1																																																																																					0.726	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317076.1		NM_001098169		C	122848423	G	C	122848423	2	2	18	1	0	0	0	0	0	0	0	1	1537	1103	39	5		5	BSX	11	122848423	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	5518952	122848423	12158093	50	1150											
OR10S1	219873	mdanderson.org	37	chr11	123847415	123847415	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcacagactatgggggtggGctgcctgctgtagactctcg	7	9	15	10	1	1	2	0	0	1	2	2	2	1	2	1	3	3	4	1	3	2	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr11:123847415G>A	ENST00000531945.1	-	1	1073	c.984C>T	c.(982-984)agC>agT	p.S328S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	328						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(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		ATGGGGGTGGGCTGCCTGCTG	0.463																																					p.S328S													.	.			0			c.C984T												48	46	47					11																	123847415		2202	4299	6501	SO:0001819	synonymous_variant	219873	exon1			GGGTGGGCTGCCT	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.984C>T	11.37:g.123847415G>A			42	0	0		35	0.09	3	NM_001004474	0		0	B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	CCDS31701.1																																																																																					0.463	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387265.2		NM_001004474		A	123847415	G	A	123847415	2	1	18	1	0	0	0	0	0	0	0	1	10935	1194	42	2		2	OR10S1	11	123847415	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	998992	123847415	11159101	51	1151											
ST14	6768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	130068300	130068300	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcggagacaacagcgaCgagcaggggtgcagtgagtg	11	4	18	8	3	0	2	0	1	0	1	0	6	0	2	0	3	5	2	0	3	1	0	rs367833176		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr11:130068300C>T	ENST00000278742.5	+	13	1975	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	519	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ACAACAGCGACGAGCAGGGGT	0.662													C|||	1	0.000199681	0	0	5008	,	,		13322	0.001		0	False		,,,				2504	0				p.D519D													ST14,caecum,carcinoma,0,1	ST14	0	1	0			c.C1557T							C		1,4401	2.1+/-5.4	0,1,2200	62	63	63		1557	-8.7	0.1	11		63	0,8594		0,0,4297	no	coding-synonymous	ST14	NM_021978.3		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		519/856	130068300	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	6768	exon13			CAGCGACGAGCAG	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1557C>T	11.37:g.130068300C>T			115	0	0		116	0.06	7	NM_021978	61	0.16	10	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	CCDS8487.1																																																																																					0.662	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386119.1				T	130068300	C	T	130068300	2	4	18	1	0	0	0	0	0	0	0	1	15234	535	19	1		1	ST14	11	130068300	Silent	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	6220885	130068300	4938216	52	1152											
NANOG	79923	broad.mit.edu	37	chr12	7947397	7947397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaattcaacctggagcaaCcagacccagaacatccagtc	16	5	6	14	0	1	2	1	0	0	2	3	3	2	3	4	1	5	1	4	1	5	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr12:7947397C>G	ENST00000229307.4	+	4	843	c.624C>G	c.(622-624)aaC>aaG	p.N208K	NANOG_ENST00000526286.1_Missense_Mutation_p.N192K	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	208	8 X repeats starting with a Trp in each unit.|Sufficient for transactivation activity. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CCTGGAGCAACCAGACCCAGA	0.542																																					p.N208K													.	NANOG	30		0			c.C624G												7	7	7					12																	7947397		2021	4148	6169	SO:0001583	missense	79923	exon4			GAGCAACCAGACC	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.624C>G	12.37:g.7947397C>G	ENSP00000229307:p.Asn208Lys		202	0	0		310	0.09	29	NM_024865	882	0.13	119	D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079441	0.36662	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.91843	-2.81;-2.92;-2.82	3.36	3.36	0.38483	.	0.879945	0.09868	N	0.745310	D	0.91855	0.7422	M	0.68593	2.085	0.23095	N	0.998302	P	0.45594	0.862	P	0.46208	0.507	D	0.83626	0.0142	10	0.35671	T	0.21	-5.2835	11.0131	0.47673	0.0:1.0:0.0:0.0	.	208	Q9H9S0	NANOG_HUMAN	K	184;208;192	ENSP00000444434:N184K;ENSP00000229307:N208K;ENSP00000435288:N192K	ENSP00000229307:N208K	N	+	3	2	NANOG	7838664	0.007000	0.16637	0.426000	0.26672	0.190000	0.23558	1.081000	0.30791	1.811000	0.52892	0.479000	0.44913	AAC			0.542	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387480.2		NM_024865		G	7947397	C	G	7947397	3	3	18	1	0	0	0	0	1	0	0	0	10166	506	18	5	638	5	NANOG	12	7947397	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10		7947397	125904498	53	1153											
TAS2R46	259292	hgsc.bcm.edu	37	chr12	11214498	11214498	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagcaaaggccccaatagTatcaccagaacaacactctt	17	7	5	12	0	2	1	1	0	1	1	2	1	2	1	3	1	3	2	3	1	8	4			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr12:11214498T>C	ENST00000533467.1	-	1	395	c.396A>G	c.(394-396)atA>atG	p.I132M	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	132					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)		GCCCCAATAGTATCACCAGAA	0.343																																					p.I132M													.	.			0			c.A396G												97	98	98					12																	11214498		2021	4209	6230	SO:0001583	missense	259292	exon1			CAATAGTATCACC	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.396A>G	12.37:g.11214498T>C	ENSP00000436450:p.Ile132Met		102	0	0		144	0.05	7	NM_176887	0		0	P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	T	0.749	-0.773502	0.02951	.	.	ENSG00000226761	ENST00000533467	T	0.00840	5.63	2.54	-5.09	0.02920	.	.	.	.	.	T	0.00754	0.0025	N	0.25245	0.725	0.09310	N	1	B	0.18013	0.025	B	0.27262	0.078	T	0.44236	-0.9341	9	0.23302	T	0.38	.	6.4017	0.21642	0.0:0.4637:0.1333:0.4029	.	132	P59540	T2R46_HUMAN	M	132	ENSP00000436450:I132M	ENSP00000436450:I132M	I	-	3	3	TAS2R46	11105765	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-3.764000	0.00372	-1.789000	0.01264	-1.366000	0.01203	ATA			0.343	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383559.1		NM_176887		C	11214498	T	C	11214498	3	2	18	1	0	0	0	0	1	0	0	0	15605	1628	57	4	537	4	TAS2R46	12	11214498	Missense_Mutation	SNP	T	TCGA-2G-AAG0-01A-11D-A42Y-10	3267101	11214498	122637397	54	1154											
LTB4R2	56413	mdanderson.org	37	chr14	24780818	24780818	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctctggggaggcccgaggGggcggccgctctagggaagg	5	4	22	10	3	2	0	0	0	2	0	2	3	2	2	2	9	0	2	2	9	2	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr14:24780818G>T	ENST00000528054.1	+	1	2658	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	CIDEB_ENST00000258807.5_5'Flank|LTB4R2_ENST00000533293.1_Silent_p.G316G|LTB4R2_ENST00000543919.1_Silent_p.G316G|LTB4R_ENST00000345363.3_5'UTR|CIDEB_ENST00000555817.1_5'Flank|CIDEB_ENST00000336557.5_5'Flank|LTB4R_ENST00000396789.4_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	347					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		AGGCCCGAGGGGGCGGCCGCT	0.682																																					p.G316G													.	.			0			c.G948T												34	44	40					14																	24780818		2197	4291	6488	SO:0001819	synonymous_variant	56413	exon2			CCGAGGGGGCGGC	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.1041G>T	14.37:g.24780818G>T			30	0	0		20	0.15	3	NM_019839	4	0	0	Q5KU28|Q9NPE5	Silent	SNP	ENST00000528054.1	37																																																																																						0.682	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding		OTTHUMT00000073194.4				T	24780818	G	T	24780818	2	4	18	1	0	0	0	0	0	0	0	1	9088	1219	43	3		3	LTB4R2	14	24780818	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		24780818	82568722	55	1155											
NKX2-1	7080	bcgsc.ca	37	chr14	36988452	36988452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcctgtacgccgccagCggagccccgaggccgccgcc	4	3	13	21	6	0	0	0	0	0	0	0	2	0	1	9	2	4	1	9	2	1	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr14:36988452C>T	ENST00000518149.1	-	2	716	c.111G>A	c.(109-111)ccG>ccA	p.P37P	NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000354822.5_Silent_p.P67P|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Silent_p.P37P|NKX2-1_ENST00000522719.2_Silent_p.P37P			P43699	NKX21_HUMAN	NK2 homeobox 1	37					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)		ACGCCGCCAGCGGAGCCCCGA	0.672			A		NSCLC																																p.P67P				Dom	yes		14	14q13	7080	NK2 homeobox 1		E	.	NKX2-1	21		0			c.G201A												7	9	9					14																	36988452		2144	4217	6361	SO:0001819	synonymous_variant	7080	exon2			CGCCAGCGGAGCC		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.111G>A	14.37:g.36988452C>T			61	0	0		51	0.08	4	NM_001079668	0		0	D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Silent	SNP	ENST00000518149.1	37	CCDS9659.1																																																																																					0.672	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376225.2		NM_003317		T	36988452	C	T	36988452	2	4	18	1	0	0	0	0	0	0	0	1	10466	755	27	1		1	NKX2-1	14	36988452	Silent	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	12207634	36988452	70361088	56	1156											
SLC8A3	6547	mdanderson.org	37	chr14	70512975	70512975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacggcgttgctgcccgTcacgttgccaatggaggcgt	6	10	14	11	5	1	1	1	1	0	0	1	2	1	2	2	3	3	3	2	3	1	3			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr14:70512975T>C	ENST00000381269.2	-	8	3226	c.2473A>G	c.(2473-2475)Acg>Gcg	p.T825A	SLC8A3_ENST00000534137.1_Missense_Mutation_p.T822A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.T819A|SLC8A3_ENST00000357887.3_Missense_Mutation_p.T823A|SLC8A3_ENST00000394330.2_Missense_Mutation_p.T182A|SLC8A3_ENST00000216568.7_Missense_Mutation_p.T196A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.T823A|SLC8A3_ENST00000533541.1_3'UTR	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	825					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)		TTGCTGCCCGTCACGTTGCCA	0.592											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T825A													.	.			0			c.A2473G												48	42	44					14																	70512975		2203	4300	6503	SO:0001583	missense	6547	exon8			TGCCCGTCACGTT	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.2473A>G	14.37:g.70512975T>C	ENSP00000370669:p.Thr825Ala		75	0	0	1122	50	0.06	3	NM_183002	0		0	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.772104	0.90108	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.76	5.76	0.90799	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.80909	0.4714	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D	0.76494	0.992;0.997;0.979;0.992;0.999	D;D;D;D;D	0.80764	0.986;0.994;0.982;0.987;0.973	D	0.83948	0.0315	10	0.87932	D	0	.	16.0863	0.81056	0.0:0.0:0.0:1.0	.	819;825;823;822;196	P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;NAC3_HUMAN;.;.;.	A	819;825;823;196;182;822;823	ENSP00000349392:T819A;ENSP00000370669:T825A;ENSP00000350560:T823A;ENSP00000216568:T196A;ENSP00000377863:T182A;ENSP00000436688:T822A;ENSP00000433531:T823A	ENSP00000216568:T196A	T	-	1	0	SLC8A3	69582728	1.000000	0.71417	0.950000	0.38849	0.972000	0.66771	8.040000	0.89188	2.197000	0.70478	0.454000	0.30748	ACG			0.592	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390736.1				C	70512975	T	C	70512975	3	2	18	1	0	0	0	0	1	0	0	0	14731	1667	58	4	314	4	SLC8A3	14	70512975	Missense_Mutation	SNP	T	TCGA-2G-AAG0-01A-11D-A42Y-10	33524523	70512975	36836565	57	1157											
RIN3	79890	mdanderson.org	37	chr14	93118316	93118316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcttgcccccgcccctGcctgtcctttgcccacctct	1	12	6	22	1	2	0	0	0	2	0	3	0	3	0	8	0	4	1	8	0	0	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr14:93118316G>T	ENST00000216487.7	+	6	1081	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	308	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ccccgcccctgcctgtccttt	0.731																																					p.A308S													.	.			0			c.G922T												5	6	6					14																	93118316		2000	3883	5883	SO:0001583	missense	79890	exon6			GCCCCTGCCTGTC	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.922G>T	14.37:g.93118316G>T	ENSP00000216487:p.Ala308Ser		22	0	0		29	0.1	3	NM_024832	3	0	0	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	2.867	-0.234769	0.05983	.	.	ENSG00000100599	ENST00000216487	T	0.05580	3.42	4.33	3.4	0.38934	.	1.477230	0.04055	N	0.305435	T	0.06280	0.0162	L	0.36672	1.1	0.23168	N	0.998188	B;B	0.26635	0.084;0.155	B;B	0.24155	0.051;0.051	T	0.45160	-0.9280	10	0.07644	T	0.81	-1.8306	7.5622	0.27857	0.096:0.1706:0.7334:0.0	.	233;308	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	S	308	ENSP00000216487:A308S	ENSP00000216487:A308S	A	+	1	0	RIN3	92188069	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.106000	0.10890	0.768000	0.33290	0.313000	0.20887	GCC			0.731	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412269.1				T	93118316	G	T	93118316	3	4	18	1	0	0	0	0	1	0	0	0	13396	1319	46	2	944	2	RIN3	14	93118316	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	22605341	93118316	14231224	58	1158											
TCF12	6938	mdanderson.org	37	chr15	57574716	57574716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgccgtatcggcagaGccgccaaccacactgccagg	8	7	11	15	3	1	1	0	0	1	1	2	1	1	1	5	2	4	3	5	2	2	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr15:57574716G>T	ENST00000267811.5	+	19	2284	c.1980G>T	c.(1978-1980)gaG>gaT	p.E660D	TCF12_ENST00000452095.2_Missense_Mutation_p.E680D|TCF12_ENST00000343827.3_Missense_Mutation_p.E490D|TCF12_ENST00000559710.1_Missense_Mutation_p.E294D|TCF12_ENST00000543579.1_Missense_Mutation_p.E514D|TCF12_ENST00000333725.5_Missense_Mutation_p.E684D|TCF12_ENST00000559703.1_Missense_Mutation_p.E317D|TCF12_ENST00000557843.1_Missense_Mutation_p.E660D|TCF12_ENST00000537840.1_Missense_Mutation_p.E424D|TCF12_ENST00000438423.2_Missense_Mutation_p.E684D	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	660					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TATCGGCAGAGCCGCCAACCA	0.473			T	TEC	extraskeletal myxoid chondrosarcoma																																p.E684D				Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	.	.			0			c.G2052T												131	129	130					15																	57574716		2192	4292	6484	SO:0001583	missense	6938	exon20			GGCAGAGCCGCCA	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1980G>T	15.37:g.57574716G>T	ENSP00000267811:p.Glu660Asp		40	0	0		28	0.11	3	NM_207037	20	0	0	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388603	0.61956	.	.	ENSG00000140262	ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.20881	2.64;2.65;2.64;2.65;2.39;2.04;2.37	5.82	5.82	0.92795	.	0.091723	0.85682	D	0.000000	T	0.15046	0.0363	N	0.02315	-0.6	0.52099	D	0.999946	B;B;B;D;D;B;B;B	0.61080	0.048;0.361;0.003;0.983;0.989;0.041;0.024;0.041	B;B;B;P;P;B;B;B	0.51415	0.023;0.041;0.006;0.621;0.669;0.028;0.012;0.028	T	0.29882	-0.9997	10	0.10636	T	0.68	-7.6776	20.1142	0.97922	0.0:0.0:1.0:0.0	.	294;514;424;680;514;490;660;684	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;HTF4_HUMAN;.	D	660;684;680;684;514;424;490;272	ENSP00000267811:E660D;ENSP00000388940:E684D;ENSP00000396881:E680D;ENSP00000331057:E684D;ENSP00000440017:E514D;ENSP00000444696:E424D;ENSP00000342459:E490D	ENSP00000267811:E660D	E	+	3	2	TCF12	55362008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.178000	0.50879	2.765000	0.95021	0.650000	0.86243	GAG			0.473	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255069.3		NM_003205		T	57574716	G	T	57574716	3	4	18	1	0	0	0	0	1	0	0	0	15710	962	34	2	2199	2	TCF12	15	57574716	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		57574716	44956676	59	1159											
ACAN	176	hgsc.bcm.edu	37	chr15	89399983	89399983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgctgcccctggagtagaGgacatcagcgggcttccttc	7	9	12	13	1	1	1	1	0	0	1	3	3	2	3	3	3	3	3	3	3	1	3	rs529296210	byFrequency	TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr15:89399983G>T	ENST00000561243.1	+	11	4167	c.4167G>T	c.(4165-4167)gaG>gaT	p.E1389D	ACAN_ENST00000559004.1_Missense_Mutation_p.E1389D|ACAN_ENST00000352105.7_Missense_Mutation_p.E1389D|ACAN_ENST00000439576.2_Missense_Mutation_p.E1389D			P16112	PGCA_HUMAN	aggrecan	1389	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				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)			CTGGAGTAGAGGACATCAGCG	0.537													-|||	8	0.00159744	0	0.0014	5008	,	,		22389	0		0.005	False		,,,				2504	0.002				p.E1389D													AGC1,NS,carcinoma,+2,4	AGC1	2	4	0			c.G4167T												30	26	27					15																	89399983		1663	3381	5044	SO:0001583	missense	176	exon12			AGTAGAGGACATC	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.4167G>T	15.37:g.89399983G>T	ENSP00000453342:p.Glu1389Asp		49	0.0408163265	2		55	0.05	3	NM_001135	3	0	0	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	9.260	1.042974	0.19748	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.96073	-3.9;-3.9	3.52	-2.6	0.06190	.	.	.	.	.	D	0.94850	0.8336	M	0.80982	2.52	0.09310	N	1	D;D	0.57571	0.98;0.98	P;P	0.57548	0.823;0.823	D	0.86179	0.1605	9	0.13470	T	0.59	.	1.6618	0.02793	0.1876:0.1326:0.4438:0.236	.	1389;1389	E7ENV9;E7EX88	.;.	D	1389;1389;1275	ENSP00000387356:E1389D;ENSP00000341615:E1389D	ENSP00000268134:E1275D	E	+	3	2	ACAN	87200987	0.048000	0.20356	0.000000	0.03702	0.101000	0.19017	1.422000	0.34826	-0.347000	0.08299	-0.424000	0.05967	GAG			0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416267.2		NM_001135		T	89399983	G	T	89399983	3	4	18	1	0	0	0	0	1	0	0	0	117	991	35	3	4209	3	ACAN	15	89399983	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	31825267	89399983	13131409	60	1160											
ZNF75A	7627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3367499	3367499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaccttcagagttagctCtgaccttattaagcaccaaa	15	10	6	10	0	2	2	1	1	1	1	2	3	2	2	3	0	3	3	3	0	6	4			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr16:3367499C>G	ENST00000574298.1	+	6	994	c.521C>G	c.(520-522)tCt>tGt	p.S174C	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	174					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)|large_intestine(3)|lung(7)|prostate(1)	12						AGAGTTAGCTCTGACCTTATT	0.383																																					p.S174C													.	.			0			c.C521G												81	79	79					16																	3367499		2197	4300	6497	SO:0001583	missense	7627	exon6			TTAGCTCTGACCT	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"Zinc fingers, C2H2-type", "-"	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.521C>G	16.37:g.3367499C>G	ENSP00000459566:p.Ser174Cys		146	0	0		195	0.19	37	NM_153028	100	0.32	32	Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202946	0.58234	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	3.6	0.41247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000464	T	0.54775	0.1879	M	0.80028	2.48	0.26965	N	0.96573	B	0.22414	0.069	B	0.19946	0.027	T	0.56649	-0.7944	9	0.66056	D	0.02	.	12.5959	0.56470	0.0:0.8312:0.1688:0.0	.	174	Q96N20	ZN75A_HUMAN	C	174	.	ENSP00000293995:S174C	S	+	2	0	ZNF75A	3307500	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.207000	0.17395	1.253000	0.44018	0.557000	0.71058	TCT			0.383	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251506.2		NM_153028		G	3367499	C	G	3367499	3	3	18	1	0	0	0	0	1	0	0	0	18156	913	32	5	531	5	ZNF75A	16	3367499	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10		3367499	86987254	61	1161											
CAPNS2	84290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	55601279	55601279	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaatgaagatggagataTggattttaacaatttcatca	15	14	8	4	0	2	3	2	1	0	2	2	5	2	4	0	2	2	1	0	2	5	5	rs567078741		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr16:55601279T>A	ENST00000457326.2	+	1	696	c.611T>A	c.(610-612)aTg>aAg	p.M204K	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	204	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GATGGAGATATGGATTTTAAC	0.478																																					p.M204K													.	.			0			c.T611A												189	186	187					16																	55601279		1954	4158	6112	SO:0001583	missense	84290	exon1			GAGATATGGATTT	AY052551	CCDS54010.1	16q12.2	2013-01-10						"EF-hand domain containing"	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.611T>A	16.37:g.55601279T>A	ENSP00000400882:p.Met204Lys		119	0	0		131	0.15	19	NM_032330	0		0	Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868728	0.72065	.	.	ENSG00000256812	ENST00000457326	T	0.47177	0.85	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.67655	0.2916	M	0.85777	2.775	0.58432	D	0.999999	D	0.55385	0.971	P	0.55011	0.766	T	0.73972	-0.3814	9	0.87932	D	0	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	204	Q96L46	CPNS2_HUMAN	K	204	ENSP00000400882:M204K	ENSP00000400882:M204K	M	+	2	0	CAPNS2	54158780	1.000000	0.71417	0.996000	0.52242	0.275000	0.26752	7.698000	0.84413	2.288000	0.76882	0.528000	0.53228	ATG			0.478	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396391.1		NM_032330		A	55601279	T	A	55601279	3	1	18	1	0	0	0	0	1	0	0	0	2636	1464	51	5	613	5	CAPNS2	16	55601279	Missense_Mutation	SNP	T	TCGA-2G-AAG0-01A-11D-A42Y-10	52233780	55601279	34753474	62	1162											
CNTNAP4	85445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	76555039	76555039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttcacaaaacaggaTcattttggaattcagcttcc	11	17	5	8	0	3	0	3	0	0	0	4	2	4	2	1	2	2	1	1	2	3	8			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr16:76555039T>C	ENST00000476707.1	+	15	2516	c.2377T>C	c.(2377-2379)Tca>Cca	p.S793P	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S789P|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S741P|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S717P			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	790	Laminin G-like 3. {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						CAAAACAGGATCATTTTGGAA	0.303																																					p.S717P													CNTNAP4_ENST00000478060,NS,carcinoma,-1,2	CNTNAP4_ENST00000478060	-1	2	0			c.T2149C												165	154	157					16																	76555039		1805	4074	5879	SO:0001583	missense	85445	exon15			ACAGGATCATTTT	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.2377T>C	16.37:g.76555039T>C	ENSP00000417628:p.Ser793Pro		73	0.0136986301	1		76	0.33	25	NM_138994	0		0	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	T	8.693	0.907883	0.17833	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	4.99	3.9	0.45041	Concanavalin A-like lectin/glucanase (1);	0.464118	0.16048	N	0.232099	T	0.06005	0.0156	.	.	.	0.09310	N	1	B;B;B	0.15930	0.007;0.015;0.003	B;B;B	0.16289	0.013;0.013;0.015	T	0.36138	-0.9760	9	0.29301	T	0.29	.	1.2153	0.01913	0.259:0.0875:0.2265:0.427	.	717;793;790	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	P	789;741;717;793	ENSP00000306893:S789P;ENSP00000439733:S741P;ENSP00000418741:S717P;ENSP00000417628:S793P	ENSP00000306893:S789P	S	+	1	0	CNTNAP4	75112540	0.523000	0.26274	0.104000	0.21259	0.887000	0.51463	1.416000	0.34759	0.952000	0.37798	0.459000	0.35465	TCA			0.303	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000348216.1		NM_033401		C	76555039	T	C	76555039	3	2	18	1	0	0	0	0	1	0	0	0	3651	1435	50	4	2443	4	CNTNAP4	16	76555039	Missense_Mutation	SNP	T	TCGA-2G-AAG0-01A-11D-A42Y-10	20953760	76555039	13799714	63	1163											
CPNE7	27132	bcgsc.ca	37	chr16	89643986	89643986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggagcagcctgcatcccGtgttctccaaggtcttcacg	6	10	10	15	3	3	0	1	0	2	0	6	1	5	1	4	2	3	3	4	2	1	2	rs369719899		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr16:89643986G>A	ENST00000268720.5	+	2	344	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	CPNE7_ENST00000319518.8_Missense_Mutation_p.V72M	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	72	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCTGCATCCCGTGTTCTCCAA	0.632																																					p.V72M													.	CPNE7	56		0			c.G214A							G	MET/VAL,MET/VAL	0,4338		0,0,2169	129	77	95		214,214	3.5	0.2	16		95	2,8530		0,2,4264	no	missense,missense	CPNE7	NM_014427.4,NM_153636.2	21,21	0,2,6433	AA,AG,GG		0.0234,0.0,0.0155	possibly-damaging,possibly-damaging	72/634,72/559	89643986	2,12868	2169	4266	6435	SO:0001583	missense	27132	exon2			CATCCCGTGTTCT	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.214G>A	16.37:g.89643986G>A	ENSP00000268720:p.Val72Met		61	0	0		58	0.07	4	NM_153636	7	0	0		Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638447	0.47153	0.0	2.34E-4	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.72942	-0.7;-0.7	4.48	3.52	0.40303	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.129094	0.51477	N	0.000094	T	0.80763	0.4685	M	0.84683	2.71	0.32152	N	0.584106	D;P	0.65815	0.995;0.695	P;B	0.56960	0.81;0.095	D	0.84162	0.0429	10	0.46703	T	0.11	-21.1061	11.3672	0.49679	0.0915:0.0:0.9085:0.0	.	72;72	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	M	72	ENSP00000317374:V72M;ENSP00000268720:V72M	ENSP00000268720:V72M	V	+	1	0	CPNE7	88171487	1.000000	0.71417	0.206000	0.23566	0.378000	0.30076	4.383000	0.59600	0.850000	0.35239	-0.258000	0.10820	GTG			0.632	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000269929.2				A	89643986	G	A	89643986	3	1	18	1	0	0	0	0	1	0	0	0	3819	1145	40	1	220	1	CPNE7	16	89643986	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	13088947	89643986	710767	64	1164											
RPL26	6154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	8280958	8280958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcgagatttggctttcCgttcgaggatctttttgcgg	4	16	13	8	4	1	1	0	0	1	1	3	4	2	2	1	4	1	2	1	4	0	6			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr17:8280958C>A	ENST00000584164.1	-	4	753	c.362G>T	c.(361-363)cGg>cTg	p.R121L	RPL26_ENST00000582556.1_Missense_Mutation_p.R121L|RPL26_ENST00000293842.5_Missense_Mutation_p.R121L|RP11-849F2.7_ENST00000582471.1_Intron|RPL26_ENST00000583011.1_Missense_Mutation_p.R121L|KRBA2_ENST00000396267.1_5'Flank|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000579904.1_RNA|RPL26_ENST00000585176.1_5'UTR|RP11-849F2.5_ENST00000585181.1_RNA			P61254	RL26_HUMAN	ribosomal protein L26	121					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 large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			skin(1)|urinary_tract(1)	2						TTTGGCTTTCCGTTCGAGGAT	0.373																																					p.R121L													.	.			0			c.G362T												86	92	90					17																	8280958		2203	4299	6502	SO:0001583	missense	6154	exon4			GCTTTCCGTTCGA		CCDS11142.1	17p13	2011-04-06			ENSG00000161970	ENSG00000161970		"L ribosomal proteins"	10327	protein-coding gene	gene with protein product		603704				8479925	Standard	XM_005256749		Approved	L26	uc002glh.1	P61254	OTTHUMG00000108191	ENST00000584164.1:c.362G>T	17.37:g.8280958C>A	ENSP00000463784:p.Arg121Leu		15	0	0		10	0.4	4	NM_000987	11087	0.31	3407	B2R4F0|D3DTR8|Q02877|Q6IPY2	Missense_Mutation	SNP	ENST00000584164.1	37	CCDS11142.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597405	0.66332	.	.	ENSG00000161970	ENST00000293842	.	.	.	4.41	4.41	0.53225	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.183995	0.48286	D	0.000191	T	0.74442	0.3717	M	0.89163	3.01	0.80722	D	1	B	0.30870	0.298	B	0.36092	0.217	T	0.79188	-0.1906	9	0.66056	D	0.02	.	14.8643	0.70404	0.0:1.0:0.0:0.0	.	121	P61254	RL26_HUMAN	L	121	.	ENSP00000293842:R121L	R	-	2	0	RPL26	8221683	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.682000	0.84083	2.152000	0.67230	0.585000	0.79938	CGG			0.373	RPL26-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442322.1		NM_000987		A	8280958	C	A	8280958	3	1	18	1	0	0	0	0	1	0	0	0	13596	652	23	1	79	1	RPL26	17	8280958	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10		8280958	72914252	65	1165											
MYH10	4628	mdanderson.org	37	chr17	8526560	8526560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagtccagttctctgcGccattgtaaatggaacgatc	9	11	9	12	3	1	0	0	0	1	0	5	3	2	1	3	1	2	2	3	1	3	3			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr17:8526560G>T	ENST00000269243.4	-	2	143	c.5C>A	c.(4-6)gCg>gAg	p.A2E	MYH10_ENST00000379980.4_Missense_Mutation_p.A2E|MYH10_ENST00000360416.3_Missense_Mutation_p.A2E|MYH10_ENST00000396239.1_Missense_Mutation_p.A2E	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	2					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						AGTTCTCTGCGCCATTGTAAA	0.433																																					p.A2E													.	.			0			c.C5A												40	37	38					17																	8526560		2203	4300	6503	SO:0001583	missense	4628	exon2			CTCTGCGCCATTG	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.5C>A	17.37:g.8526560G>T	ENSP00000269243:p.Ala2Glu		34	0	0		39	0.08	3	NM_005964	32	0	0	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307847	0.81247	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	D;D;D;D;T	0.86164	-2.06;-2.08;-2.08;-2.06;-1.34	4.92	4.92	0.64577	.	0.133962	0.51477	D	0.000100	T	0.80308	0.4599	N	0.08118	0	0.51012	D	0.999906	B;B;B	0.34147	0.311;0.438;0.311	B;B;B	0.39904	0.166;0.313;0.166	T	0.83033	-0.0161	10	0.87932	D	0	.	17.9243	0.88977	0.0:0.0:1.0:0.0	.	2;2;2	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	E	2	ENSP00000269243:A2E;ENSP00000353590:A2E;ENSP00000379539:A2E;ENSP00000369315:A2E;ENSP00000408220:A2E	ENSP00000269243:A2E	A	-	2	0	MYH10	8467285	1.000000	0.71417	0.965000	0.40720	0.861000	0.49209	8.913000	0.92730	2.554000	0.86153	0.561000	0.74099	GCG			0.433	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000227001.2				T	8526560	G	T	8526560	3	4	18	1	0	0	0	0	1	0	0	0	10046	1087	38	1	6085	1	MYH10	17	8526560	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	245602	8526560	72668650	66	1166											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		168	0.0178571429	3		157	0.03	4	NM_145301	40	0.2	8	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2	rescued with RNA-seq	NM_145301		T	15457087	C	T	15457087	3	4	18	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	6930527	15457087	65738123	67	1167											
THRA	7067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	38244622	38244622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggagatggctgtcaagcGggagcagctcaagaatggcg	10	6	18	7	2	2	2	2	0	0	2	2	4	2	3	0	5	3	3	0	5	3	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr17:38244622G>A	ENST00000264637.4	+	8	1431	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	THRA_ENST00000394121.4_Missense_Mutation_p.R284Q|THRA_ENST00000584985.1_Missense_Mutation_p.R284Q|THRA_ENST00000546243.1_Missense_Mutation_p.R284Q|THRA_ENST00000450525.2_Missense_Mutation_p.R284Q	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	284	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R284P(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCTGTCAAGCGGGAGCAGCTC	0.607																																					p.R284Q													THRA_ENST00000450525,NS,carcinoma,0,1	THRA_ENST00000450525	0	1	2	Substitution - Missense(2)	lung(2)	c.G851A												103	96	98					17																	38244622		2203	4300	6503	SO:0001583	missense	7067	exon8			TCAAGCGGGAGCA	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.851G>A	17.37:g.38244622G>A	ENSP00000264637:p.Arg284Gln		58	0	0		62	0.23	14	NM_001190918	18	0.28	5	A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	g	29.4	5.005385	0.93287	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	L	0.52206	1.635	0.58432	D	0.999997	D;P;P	0.53619	0.961;0.864;0.471	B;B;B	0.41666	0.345;0.363;0.024	D	0.95336	0.8434	10	0.87932	D	0	.	17.0857	0.86611	0.0:0.0:1.0:0.0	.	284;284;284	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	Q	284	ENSP00000377679:R284Q;ENSP00000264637:R284Q;ENSP00000395641:R284Q;ENSP00000443972:R284Q	ENSP00000264637:R284Q	R	+	2	0	THRA	35498148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.956000	0.87863	2.304000	0.77564	0.486000	0.48141	CGG			0.607	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000257160.2				A	38244622	G	A	38244622	3	1	18	1	0	0	0	0	1	0	0	0	15896	1116	39	1	877	1	THRA	17	38244622	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	22787535	38244622	42950588	68	1168											
ITGA2B	3674	mdanderson.org	37	chr17	42460945	42460945	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgccagtcagcaggaGgctgggggcacccagcgcgt	6	6	17	12	2	1	0	1	0	0	0	1	1	1	1	2	4	3	3	2	4	0	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr17:42460945G>T	ENST00000262407.5	-	12	1157	c.1126C>A	c.(1126-1128)Ctc>Atc	p.L376I	ITGA2B_ENST00000353281.4_Missense_Mutation_p.L376I|ITGA2B_ENST00000377068.3_Missense_Mutation_p.L61I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	376					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)			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)	GTCAGCAGGAGGCTGGGGGCA	0.637																																					p.L376I													.	.			0			c.C1126A												21	20	20					17																	42460945		2201	4297	6498	SO:0001583	missense	3674	exon12			GCAGGAGGCTGGG		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.1126C>A	17.37:g.42460945G>T	ENSP00000262407:p.Leu376Ile		58	0	0		47	0.06	3	NM_000419	7	0	0	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381917	0.61845	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.72394	-0.65;-0.65;-0.65	5.8	4.83	0.62350	.	0.281428	0.19107	N	0.122554	T	0.66015	0.2747	N	0.21142	0.635	0.33637	D	0.60682	P	0.45569	0.861	P	0.51918	0.684	T	0.68029	-0.5517	10	0.15066	T	0.55	.	14.2356	0.65925	0.0:0.1493:0.8507:0.0	.	376	P08514	ITA2B_HUMAN	I	376;376;61	ENSP00000262407:L376I;ENSP00000340536:L376I;ENSP00000366268:L61I	ENSP00000262407:L376I	L	-	1	0	ITGA2B	39816471	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.980000	0.49321	1.437000	0.47472	0.561000	0.74099	CTC			0.637	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439823.1				T	42460945	G	T	42460945	3	4	18	1	0	0	0	0	1	0	0	0	7891	1000	35	3	2069	3	ITGA2B	17	42460945	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	4216323	42460945	38734265	69	1169											
CRHR1	1394	mdanderson.org	37	chr17	43898754	43898754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgcctggccaatggcaGctgggccgcccgcgtgaatt	6	7	16	12	3	0	1	0	1	0	0	0	2	0	2	4	4	2	2	4	4	2	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr17:43898754G>T	ENST00000398285.3	+	4	275	c.275G>T	c.(274-276)aGc>aTc	p.S92I	CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000577353.1_Missense_Mutation_p.S92I|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Missense_Mutation_p.S92I|CRHR1_ENST00000352855.5_Missense_Mutation_p.S52I	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	92					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCAATGGCAGCTGGGCCGCC	0.637																																					p.S92I	Ovarian(110;57 1568 10207 38216 49865)												.	.			0			c.G275T												53	60	58					17																	43898754		1964	4156	6120	SO:0001583	missense	1394	exon4			ATGGCAGCTGGGC	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.275G>T	17.37:g.43898754G>T	ENSP00000381333:p.Ser92Ile		32	0	0		32	0.09	3	NM_001145148	0		0	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984385	0.35036	.	.	ENSG00000120088	ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T	0.54675	0.62;0.56;0.62;1.02	4.84	3.87	0.44632	GPCR, family 2, extracellular hormone receptor domain (3);	0.106301	0.64402	D	0.000004	T	0.57489	0.2057	L	0.60455	1.87	0.80722	D	1	B;P;B;B	0.36909	0.257;0.573;0.257;0.257	B;P;B;B	0.45794	0.139;0.493;0.211;0.139	T	0.62905	-0.6755	10	0.72032	D	0.01	.	12.9137	0.58195	0.0:0.1776:0.8224:0.0	.	92;92;52;92	P34998-4;P34998;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.	I	92;92;92;52	ENSP00000381333:S92I;ENSP00000326060:S92I;ENSP00000239167:S92I;ENSP00000344068:S52I	ENSP00000326060:S92I	S	+	2	0	CRHR1	41254535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.173000	0.58249	1.404000	0.46819	0.655000	0.94253	AGC			0.637	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000441241.3				T	43898754	G	T	43898754	3	4	18	1	0	0	0	0	1	0	0	0	3873	971	34	2	289	2	CRHR1	17	43898754	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	1437809	43898754	37296456	70	1170											
PTPRS	5802	mdanderson.org	37	chr19	5212050	5212050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctggatgtaggcatagaGgctgcgtgcgggcacttctg	6	11	15	9	2	2	1	0	0	2	1	2	2	2	2	0	4	2	4	0	4	2	4			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr19:5212050G>T	ENST00000587303.1	-	31	5080	c.4981C>A	c.(4981-4983)Ctc>Atc	p.L1661I	PTPRS_ENST00000588012.1_Missense_Mutation_p.L1623I|PTPRS_ENST00000353284.2_Missense_Mutation_p.L1214I|PTPRS_ENST00000592099.1_Missense_Mutation_p.L1214I|PTPRS_ENST00000357368.4_Missense_Mutation_p.L1661I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.L1641I|PTPRS_ENST00000372412.4_Missense_Mutation_p.L1662I|PTPRS_ENST00000348075.2_Missense_Mutation_p.L1623I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1661					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)	TAGGCATAGAGGCTGCGTGCG	0.627																																					p.L1661I													.	.			0			c.C4981A												58	53	54					19																	5212050		2203	4300	6503	SO:0001583	missense	5802	exon32			CATAGAGGCTGCG	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.4981C>A	19.37:g.5212050G>T	ENSP00000467537:p.Leu1661Ile		44	0	0		35	0.09	3	NM_002850	46	0	0	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844930	0.71603	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	2.47	2.47	0.30058	.	0.000000	0.52532	U	0.000073	T	0.62804	0.2458	M	0.86420	2.815	0.80722	D	1	D;P;D;D;P;D	0.62365	0.991;0.75;0.963;0.967;0.938;0.965	D;P;D;D;D;D	0.87578	0.998;0.895;0.997;0.967;0.994;0.992	T	0.72030	-0.4413	10	0.87932	D	0	.	13.3072	0.60359	0.0:0.0:1.0:0.0	.	1243;1214;1218;1623;1661;1256	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	I	1256;1662;1661;1661;1652;1641;1623;1243;1218;1214	ENSP00000361489:L1662I;ENSP00000349932:L1661I;ENSP00000262963:L1641I;ENSP00000269907:L1623I;ENSP00000327313:L1214I	ENSP00000262963:L1641I	L	-	1	0	PTPRS	5163050	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.650000	0.83521	1.399000	0.46721	0.478000	0.44815	CTC			0.627	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000450762.2				T	5212050	G	T	5212050	3	4	18	1	0	0	0	0	1	0	0	0	12834	1000	35	3	893	3	PTPRS	19	5212050	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		5212050	53916933	71	1171											
MAP1S	55201	broad.mit.edu;mdanderson.org	37	chr19	17838362	17838362	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagcctcccgctgcgtggCccccgggcgcggcgctcggc	1	5	16	19	7	0	1	0	1	0	0	2	1	1	1	4	4	2	2	4	4	0	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr19:17838362C>A	ENST00000324096.4	+	5	2320	c.2169C>A	c.(2167-2169)ggC>ggA	p.G723G	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.G697G|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	723	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGCTGCGTGGCCCCCGGGCGC	0.682																																					p.G723G													.	MAP1S	74		0			c.C2169A												18	16	17					19																	17838362		2199	4295	6494	SO:0001819	synonymous_variant	55201	exon5			GCGTGGCCCCCGG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2169C>A	19.37:g.17838362C>A			23	0	0		28	0.32	9	NM_018174	67	0.45	30	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	CCDS32954.1																																																																																					0.682	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466027.1		NM_018174		A	17838362	C	A	17838362	2	1	18	1	0	0	0	0	0	0	0	1	9250	726	26	2		2	MAP1S	19	17838362	Silent	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	12626312	17838362	41290621	72	1172											
KLHL26	55295	mdanderson.org	37	chr19	18779747	18779747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgcatctatgccctcGggggccgcatggaccacgtg	5	6	15	15	5	1	0	0	0	1	0	2	1	1	1	4	4	1	2	4	4	1	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr19:18779747G>T	ENST00000300976.4	+	3	1630	c.1540G>T	c.(1540-1542)Ggg>Tgg	p.G514W	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	514										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTATGCCCTCGGGGGCCGCAT	0.687																																					p.G514W													KLHL26,NS,carcinoma,0,1	KLHL26	0	1	0			c.G1540T												40	40	40					19																	18779747		2202	4297	6499	SO:0001583	missense	55295	exon3			GCCCTCGGGGGCC		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.1540G>T	19.37:g.18779747G>T	ENSP00000300976:p.Gly514Trp		19	0	0		18	0.11	2	NM_018316	4	0.5	2	Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192872	0.58017	.	.	ENSG00000167487	ENST00000300976	D	0.84660	-1.88	4.49	4.49	0.54785	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97391	0.9989	9	.	.	.	.	16.1797	0.81890	0.0:0.0:1.0:0.0	.	514	Q53HC5	KLH26_HUMAN	W	514	ENSP00000300976:G514W	.	G	+	1	0	KLHL26	18640747	1.000000	0.71417	0.063000	0.19743	0.624000	0.37722	9.558000	0.98132	2.060000	0.61445	0.462000	0.41574	GGG			0.687	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465145.1		NM_018316		T	18779747	G	T	18779747	3	4	18	1	0	0	0	0	1	0	0	0	8396	1116	39	1	1550	1	KLHL26	19	18779747	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	941385	18779747	40349236	73	1173											
ALDH16A1	126133	mdanderson.org	37	chr19	49971739	49971739	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttgccttcgtgtccctGctggctcccgccctggccta	1	12	10	18	2	0	0	0	0	0	0	3	0	2	0	5	2	3	3	5	2	1	3			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr19:49971739G>T	ENST00000293350.4	+	15	2203	c.2040G>T	c.(2038-2040)ctG>ctT	p.L680L	ALDH16A1_ENST00000455361.2_Silent_p.L629L|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Silent_p.L517L|ALDH16A1_ENST00000433981.2_Silent_p.L515L	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	680						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCGTGTCCCTGCTGGCTCCCG	0.692																																					p.L680L													.	.			0			c.G2040T												139	146	143					19																	49971739		2203	4300	6503	SO:0001819	synonymous_variant	126133	exon15			GTCCCTGCTGGCT	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2040G>T	19.37:g.49971739G>T			13	0	0		18	0.11	2	NM_153329	141	0	0	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	CCDS12766.1																																																																																					0.692	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465358.1		NM_153329		T	49971739	G	T	49971739	2	4	18	1	0	0	0	0	0	0	0	1	488	1306	46	2		2	ALDH16A1	19	49971739	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	31191992	49971739	9157244	74	1174											
FCGRT	2217	mdanderson.org	37	chr19	50028780	50028780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttgctactcacggcagCggctgtaggaggagctctgt	6	11	14	10	2	3	0	1	0	2	0	3	2	3	2	0	4	4	5	0	4	2	3	rs200666118		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr19:50028780C>T	ENST00000221466.5	+	6	1424	c.938C>T	c.(937-939)gCg>gTg	p.A313V	FCGRT_ENST00000599988.1_Missense_Mutation_p.A47V|FCGRT_ENST00000426395.3_Missense_Mutation_p.A313V|FCGRT_ENST00000596975.1_Missense_Mutation_p.A221V|RCN3_ENST00000270645.3_5'Flank	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	313					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)		CTCACGGCAGCGGCTGTAGGA	0.607													C|||	1	0.000199681	0	0	5008	,	,		17157	0		0.001	False		,,,				2504	0				p.A313V													FCGRT,NS,carcinoma,0,1	FCGRT	0	1	0			c.C938T							C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	74	63	67		938,938	-8.3	0	19		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCGRT	NM_004107.4,NM_001136019.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	313/366,313/366	50028780	1,13005	2203	4300	6503	SO:0001583	missense	2217	exon5			CGGCAGCGGCTGT	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.938C>T	19.37:g.50028780C>T	ENSP00000221466:p.Ala313Val		42	0	0		40	0.08	3	NM_004107	308	0	0	Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	CCDS12770.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.847	0.157445	0.09236	0.0	1.16E-4	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00700	5.82;5.82	4.73	-8.27	0.01017	.	1.561140	0.04316	N	0.349887	T	0.00440	0.0014	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50541	-0.8816	10	0.62326	D	0.03	.	3.7306	0.08491	0.108:0.2483:0.1076:0.536	.	313	P55899	FCGRN_HUMAN	V	313	ENSP00000221466:A313V;ENSP00000410798:A313V	ENSP00000221466:A313V	A	+	2	0	FCGRT	54720592	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.689000	0.05144	-1.463000	0.01904	-0.244000	0.11960	GCG	0		0.607	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465267.1				T	50028780	C	T	50028780	3	4	18	1	0	0	0	0	1	0	0	0	5799	768	27	1	956	1	FCGRT	19	50028780	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	57041	50028780	9100203	75	1175											
MYH14	79784	mdanderson.org	37	chr19	50781397	50781397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccgaggtgtccgagctgCgggcagaactgagcagcctg	8	5	17	11	3	0	2	0	1	0	1	1	4	1	2	3	3	5	3	3	3	1	0	rs372367091		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr19:50781397C>T	ENST00000596571.1	+	27	3760	c.3760C>T	c.(3760-3762)Cgg>Tgg	p.R1254W	MYH14_ENST00000376970.2_Missense_Mutation_p.R1287W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1295W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1295W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1262W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1262W|MYH14_ENST00000440075.2_Missense_Mutation_p.R1295W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1254					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)		GTCCGAGCTGCGGGCAGAACT	0.647																																					p.R1295W													.	.			0			c.C3883T							C	TRP/ARG,TRP/ARG,TRP/ARG	1,4093		0,1,2046	22	27	26		3784,3883,3760	2.7	0.2	19		26	0,8398		0,0,4199	no	missense,missense,missense	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	101,101,101	0,1,6245	TT,TC,CC		0.0,0.0244,0.0080	possibly-damaging,possibly-damaging,possibly-damaging	1262/2004,1295/2037,1254/1996	50781397	1,12491	2047	4199	6246	SO:0001583	missense	79784	exon30			GAGCTGCGGGCAG	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.3760C>T	19.37:g.50781397C>T	ENSP00000472819:p.Arg1254Trp		32	0	0		35	0.09	3	NM_001145809	10	0	0	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815942	0.50527	2.44E-4	0.0	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	3.78	2.7	0.31948	Myosin tail (1);	.	.	.	.	T	0.77698	0.4169	L	0.32530	0.975	0.09310	N	1	D;D;D	0.61080	0.989;0.969;0.961	P;P;P	0.61940	0.896;0.871;0.797	T	0.64740	-0.6336	9	0.87932	D	0	.	6.3156	0.21188	0.2211:0.5822:0.1967:0.0	.	1295;1254;1262	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1254;1295;1287;1262;1254;1295	ENSP00000406273:R1295W;ENSP00000366169:R1287W;ENSP00000407879:R1262W;ENSP00000262269:R1295W	ENSP00000262269:R1295W	R	+	1	2	MYH14	55473209	0.000000	0.05858	0.175000	0.22980	0.993000	0.82548	-0.511000	0.06321	0.891000	0.36235	0.462000	0.41574	CGG			0.647	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464710.2		NM_024729		T	50781397	C	T	50781397	3	4	18	1	0	0	0	0	1	0	0	0	10049	759	27	1	3997	1	MYH14	19	50781397	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	752617	50781397	8347586	76	1176											
KLK7	5650	mdanderson.org	37	chr19	51485168	51485168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaataatcttgtcaccctGggctggatggagacatggag	11	10	12	8	0	3	1	2	0	1	1	3	4	3	3	1	4	0	1	1	4	2	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr19:51485168G>T	ENST00000391807.1	-	3	177	c.76C>A	c.(76-78)Cag>Aag	p.Q26K	KLK7_ENST00000336317.4_Intron|KLK7_ENST00000597707.1_5'UTR|KLK7_ENST00000595820.1_Missense_Mutation_p.Q26K|KLK7_ENST00000595638.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	26					epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TTGTCACCCTGGGCTGGATGG	0.597																																					p.Q26K													KLK7,colon,carcinoma,+2,1	KLK7	2	1	0			c.C76A												52	48	50					19																	51485168		2203	4300	6503	SO:0001583	missense	5650	exon3			CACCCTGGGCTGG	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"Kallikreins", "Serine peptidases / Serine peptidases"	6368	protein-coding gene	gene with protein product		604438	"kallikrein 7 (chymotryptic, stratum corneum)"	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.76C>A	19.37:g.51485168G>T	ENSP00000375683:p.Gln26Lys		58	0.0172413793	1		48	0.06	3	NM_139277	0		0	A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	37	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	g	5.431	0.264748	0.10294	.	.	ENSG00000169035	ENST00000304045;ENST00000391807	D	0.92752	-3.1	4.39	-8.78	0.00824	.	.	.	.	.	T	0.81278	0.4789	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65833	-0.6072	9	0.62326	D	0.03	.	11.8866	0.52606	0.0:0.6501:0.1422:0.2077	.	26	P49862	KLK7_HUMAN	K	26	ENSP00000375683:Q26K	ENSP00000304791:Q26K	Q	-	1	0	KLK7	56176980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.346000	0.07760	-0.804000	0.04410	-1.328000	0.01277	CAG			0.597	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464344.1		NM_005046		T	51485168	G	T	51485168	3	4	18	1	0	0	0	0	1	0	0	0	8424	1357	47	3	701	3	KLK7	19	51485168	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	703771	51485168	7643815	77	1177											
ZNF497	162968	mdanderson.org	37	chr19	58867669	58867669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccttgctgcagtgggCgcagacgaacggcctctcgc	7	6	15	13	4	1	1	0	0	1	1	2	3	1	1	2	3	3	3	2	3	2	1			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr19:58867669C>A	ENST00000311044.3	-	3	1521	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S	A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG_ENST00000263100.3_5'Flank|ZNF497_ENST00000425453.3_Missense_Mutation_p.A445S|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	445					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)		CTGCAGTGGGCGCAGACGAAC	0.701																																					p.A445S													.	.			0			c.G1333T												11	12	12					19																	58867669		2195	4293	6488	SO:0001583	missense	162968	exon3			AGTGGGCGCAGAC	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.1333G>T	19.37:g.58867669C>A	ENSP00000311183:p.Ala445Ser		28	0	0		30	0.1	3	NM_198458	2	0	0	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	3.430	-0.116226	0.06881	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.16324	2.35;2.35	0.912	-0.21	0.13176	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	N	0.03983	-0.305	0.19575	N	0.999965	B	0.19200	0.034	B	0.24701	0.055	T	0.42103	-0.9471	9	0.21014	T	0.42	.	2.6239	0.04924	0.0:0.327:0.2651:0.4078	.	445	Q6ZNH5	ZN497_HUMAN	S	445	ENSP00000311183:A445S;ENSP00000402815:A445S	ENSP00000311183:A445S	A	-	1	0	ZNF497	63559481	0.000000	0.05858	0.044000	0.18714	0.577000	0.36160	-3.622000	0.00412	-0.041000	0.13558	0.195000	0.17529	GCC			0.701	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466942.2		NM_198458		A	58867669	C	A	58867669	3	1	18	1	0	0	0	0	1	0	0	0	17969	768	27	1	167	1	ZNF497	19	58867669	Missense_Mutation	SNP	C	TCGA-2G-AAG0-01A-11D-A42Y-10	7382501	58867669	261314	78	1178											
VSX1	30813	mdanderson.org	37	chr20	25060101	25060101	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcttcctcttgcccaaGgtgggggatgcctttaggtc	4	13	12	12	1	2	0	0	0	2	0	4	1	3	1	3	4	2	1	3	4	2	5	rs199995626		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr20:25060101G>T	ENST00000376709.4	-	2	737	c.474C>A	c.(472-474)acC>acA	p.T158T	VSX1_ENST00000444511.2_Silent_p.T158T|VSX1_ENST00000451258.1_Silent_p.T158T|VSX1_ENST00000429762.3_Silent_p.T158T|VSX1_ENST00000424574.1_Silent_p.T158T|VSX1_ENST00000376707.3_Silent_p.T158T	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	158					neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCTTGCCCAAGGTGGGGGATG	0.552																																					p.T158T													.	.			0			c.C474A												65	50	55					20																	25060101		2203	4300	6503	SO:0001819	synonymous_variant	30813	exon2			GCCCAAGGTGGGG	AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"Homeoboxes / PRD class"	12723	protein-coding gene	gene with protein product		605020	"posterior polymorphous corneal dystrophy", "visual system homeobox 1 homolog, CHX10-like (zebrafish)"	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.474C>A	20.37:g.25060101G>T			60	0	0		52	0.06	3	NM_001256271	0		0	B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	ENST00000376709.4	37	CCDS13168.1																																																																																					0.552	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078384.3				T	25060101	G	T	25060101	2	4	18	1	0	0	0	0	0	0	0	1	17255	987	35	3		3	VSX1	20	25060101	Silent	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		25060101	37965419	79	1179											
ZNF831	128611	mdanderson.org	37	chr20	57767767	57767767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgggccctggtcagacagGccgcggtggaggacctgcca	6	4	16	15	3	1	1	1	0	0	1	1	3	1	3	5	6	1	0	5	6	0	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr20:57767767G>T	ENST00000371030.2	+	1	1693	c.1693G>T	c.(1693-1695)Gcc>Tcc	p.A565S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	565							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTCAGACAGGCCGCGGTGGA	0.716																																					p.A565S													.	.			0			c.G1693T												7	9	8					20																	57767767		1885	4023	5908	SO:0001583	missense	128611	exon1			AGACAGGCCGCGG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1693G>T	20.37:g.57767767G>T	ENSP00000360069:p.Ala565Ser		22	0	0		21	0.1	2	NM_178457	0		0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310429	0.40895	.	.	ENSG00000124203	ENST00000371030	T	0.11169	2.8	5.21	4.25	0.50352	.	.	.	.	.	T	0.13286	0.0322	L	0.58101	1.795	0.24424	N	0.994609	D	0.53151	0.958	B	0.44108	0.441	T	0.15578	-1.0432	9	0.49607	T	0.09	-6.9447	7.539	0.27727	0.2465:0.0:0.7535:0.0	.	565	Q5JPB2	ZN831_HUMAN	S	565	ENSP00000360069:A565S	ENSP00000360069:A565S	A	+	1	0	ZNF831	57201162	0.799000	0.28903	0.999000	0.59377	0.742000	0.42306	1.267000	0.33050	2.423000	0.82170	0.655000	0.94253	GCC			0.716	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000079916.2		NM_178457		T	57767767	G	T	57767767	3	4	18	1	0	0	0	0	1	0	0	0	18208	1203	42	2	1695	2	ZNF831	20	57767767	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10	32707666	57767767	5257753	80	1180											
ADAMTS5	11096	mdanderson.org	37	chr21	28338584	28338584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccccctgccgccggcgggGctgggcggctgctgcagcag	2	5	17	17	4	0	0	0	0	0	0	1	0	1	0	4	5	4	5	4	5	0	0			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr21:28338584G>T	ENST00000284987.5	-	1	248	c.127C>A	c.(127-129)Ccc>Acc	p.P43T		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	43					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCCGGCGGGGCTGGGCGGCT	0.771																																					p.P43T	Esophageal Squamous(53;683 1080 10100 14424 45938)												.	.			0			c.C127A												5	5	5					21																	28338584		1398	2957	4355	SO:0001583	missense	11096	exon1			GGCGGGGCTGGGC	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.127C>A	21.37:g.28338584G>T	ENSP00000284987:p.Pro43Thr		23	0	0		17	0.12	2	NM_007038	0		0	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057811	0.55325	.	.	ENSG00000154736	ENST00000284987	T	0.12879	2.64	4.17	3.29	0.37713	.	0.185011	0.26784	N	0.022510	T	0.09158	0.0226	L	0.36672	1.1	0.28285	N	0.923822	B	0.06786	0.001	B	0.11329	0.006	T	0.29912	-0.9996	10	0.15499	T	0.54	.	6.2277	0.20718	0.0981:0.0:0.718:0.1838	.	43	Q9UNA0	ATS5_HUMAN	T	43	ENSP00000284987:P43T	ENSP00000284987:P43T	P	-	1	0	ADAMTS5	27260455	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	3.932000	0.56537	0.945000	0.37605	0.563000	0.77884	CCC			0.771	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000171648.1				T	28338584	G	T	28338584	3	4	18	1	0	0	0	0	1	0	0	0	269	1203	42	2	2697	2	ADAMTS5	21	28338584	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		28338584	19791311	81	1181											
DEPDC5	9681	broad.mit.edu	37	chr22	32302245	32302245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagttctcagggcagcagcGgcggcggcggaactccacca	9	4	14	14	4	1	0	1	0	1	0	3	1	2	1	2	5	3	3	2	5	2	1	rs370366925		TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chr22:32302245G>A	ENST00000382112.3	+	42	4617	c.4547G>A	c.(4546-4548)cGg>cAg	p.R1516Q	DEPDC5_ENST00000400246.1_Missense_Mutation_p.G1505S|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1505S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1503Q|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425Q|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342Q|DEPDC5_ENST00000382105.2_3'UTR	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1525					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.R1494Q(1)|p.R1425Q(1)		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						GGGCAGCAGCGGCGGCGGCGG	0.607																																					p.R1525Q													DEPDC5_ENST00000535622,NS,carcinoma,0,1	DEPDC5	266	1	2	Substitution - Missense(2)	endometrium(2)	c.G4574A							G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3897		0,1,1948	31	36	34		4547,4574,4274,4481	4	1	22		34	0,8270		0,0,4135	no	missense,missense,missense,missense	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	43,43,43,43	0,1,6083	AA,AG,GG		0.0,0.0257,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1516/1595,1525/1604,1425/1504,1494/1573	32302245	1,12167	1949	4135	6084	SO:0001583	missense	9681	exon43			AGCAGCGGCGGCG	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.4547G>A	22.37:g.32302245G>A	ENSP00000371546:p.Arg1516Gln		178	0	0		193	0.03	5	NM_001242896	38	0.05	2	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.511871|4.511871	0.85389|0.85389	2.57E-4|2.57E-4	0.0|0.0	ENSG00000100150|ENSG00000100150	ENST00000400246;ENST00000382111|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000382112;ENST00000400248;ENST00000539165	T;T|T;T;T;T;T	0.21191|0.32023	2.02;2.02|1.47;1.9;1.9;1.91;1.9	4.99|4.99	3.96|3.96	0.45880|0.45880	.|.	.|0.091579	.|0.44483	.|D	.|0.000449	T|T	0.45756|0.45756	0.1358|0.1358	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.998;0.999;0.997	.|D;D;D;D;D	.|0.75484	.|0.978;0.945;0.986;0.978;0.968	T|T	0.24119|0.24119	-1.0169|-1.0169	7|10	0.87932|0.25106	D|T	0|0.35	.|.	14.0559|14.0559	0.64769|0.64769	0.0:0.0:0.8478:0.1522|0.0:0.0:0.8478:0.1522	.|.	.|1525;1425;1503;1516;1494	.|B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;DEPD5_HUMAN	S|Q	1505|1425;1503;1494;1425;1516;1494;342	ENSP00000383105:G1505S;ENSP00000371545:G1505S|ENSP00000440210:R1425Q;ENSP00000266091:R1503Q;ENSP00000383108:R1494Q;ENSP00000371546:R1516Q;ENSP00000383107:R1494Q	ENSP00000371545:G1505S|ENSP00000266091:R1503Q	G|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30632245|30632245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.191000|9.191000	0.94940|0.94940	1.225000|1.225000	0.43566|0.43566	0.462000|0.462000	0.41574|0.41574	GGC|CGG			0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129087.1	rescued with RNA-seq	NM_014662		A	32302245	G	A	32302245	3	1	18	1	0	0	0	0	1	0	0	0	4447	1116	39	1	4731	1	DEPDC5	22	32302245	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		32302245	19002321	82	1182											
CT47B1	643311	mdanderson.org	37	chrX	120009259	120009259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcctcttcctccgtcgcgGgcccgatatctgagtcctcc	3	11	8	19	4	2	1	0	1	2	0	8	2	7	1	7	1	0	0	7	1	1	2			TCGA-2G-AAG0-01A-11D-A42Y-10	TCGA-2G-AAG0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37419ab1-477a-401f-9102-079a57e05b6b	394fde22-74c9-4c8f-9c07-2b22933c92a7	g.chrX:120009259G>T	ENST00000371311.3	-	1	520	c.266C>A	c.(265-267)cCc>cAc	p.P89H		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	89										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ctccGTCGCGGGCCCGATATC	0.721																																					p.P89H													.	.			0			c.C266A												30	35	34					X																	120009259		692	1590	2282	SO:0001583	missense	643311	exon1			GTCGCGGGCCCGA		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.266C>A	X.37:g.120009259G>T	ENSP00000360360:p.Pro89His		28	0	0		37	0.08	3	NM_001145718	0		0	A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829188	0.32329	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.43	0.579	0.17397	.	.	.	.	.	T	0.35885	0.0947	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.61940	0.896	T	0.15093	-1.0449	8	0.59425	D	0.04	.	4.3075	0.10955	0.3723:0.0:0.6277:0.0	.	89	P0C2W7	CT47B_HUMAN	H	89	.	ENSP00000360360:P89H	P	-	2	0	CT47B1	119893287	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.307000	0.19296	0.054000	0.16065	0.171000	0.16805	CCC			0.721	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058121.1		NM_001145718		T	120009259	G	T	120009259	3	4	18	1	0	0	0	0	1	0	0	0	3991	1232	43	3	641	3	CT47B1	23	120009259	Missense_Mutation	SNP	G	TCGA-2G-AAG0-01A-11D-A42Y-10		120009259	35261301	83	1183											
ALDH4A1	8659	hgsc.bcm.edu;mdanderson.org	37	chr1	19209815	19209815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttggtgctcgggggcacGctgatgggctgctgcccctc	2	10	16	13	2	0	1	0	1	0	0	2	1	0	1	2	4	3	6	2	4	0	1	rs199723895		TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr1:19209815G>T	ENST00000375341.3	-	6	818	c.561C>A	c.(559-561)agC>agA	p.S187R	ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.S127R|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.S187R|MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.S187R	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	187					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGGGCACGCTGATGGGCT	0.642																																					p.S187R													.	.			0			c.C561A												51	43	46					1																	19209815		2203	4300	6503	SO:0001583	missense	8659	exon6			GGGCACGCTGATG	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.561C>A	1.37:g.19209815G>T	ENSP00000364490:p.Ser187Arg		68	0	0		54	0.07	4	NM_003748	31	0	0	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	CCDS188.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016373	0.35606	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.31	-2.73	0.05950	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.259105	0.50627	D	0.000111	T	0.68393	0.2996	L	0.50333	1.59	0.49051	D	0.999742	P	0.36125	0.538	B	0.42214	0.38	T	0.64685	-0.6349	10	0.72032	D	0.01	-27.23	11.1626	0.48524	0.499:0.0:0.501:0.0	.	187	P30038	AL4A1_HUMAN	R	187;187;187;127;171;85;127;171	ENSP00000290597:S187R;ENSP00000364490:S187R;ENSP00000446071:S187R;ENSP00000442988:S127R;ENSP00000393209:S171R	ENSP00000290597:S187R	S	-	3	2	ALDH4A1	19082402	0.997000	0.39634	0.677000	0.29947	0.272000	0.26649	0.731000	0.26058	-0.591000	0.05859	-1.505000	0.00955	AGC			0.642	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006954.1				T	19209815	G	T	19209815	3	4	19	1	0	0	0	0	1	0	0	0	501	1078	38	1	1170	1	ALDH4A1	1	19209815	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		19209815	230040806	1	1184											
CSMD2	114784	mdanderson.org	37	chr1	34164479	34164479	+	De_novo_Start_OutOfFrame	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctccctgcaaaatgacCttcatcatgaaccttgtagc	11	10	8	12	0	2	2	2	2	0	0	3	3	3	3	3	1	4	3	3	1	4	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr1:34164479C>A	ENST00000373388.2	-	0	638				CSMD2_ENST00000373381.4_Missense_Mutation_p.G1267C|CSMD2_ENST00000373380.1_Missense_Mutation_p.G140C			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							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)				GCAAAATGACCTTCATCATGA	0.547																																					p.G1227C													.	.			0			c.G3679T												81	75	77					1																	34164479		2203	4300	6503			114784	exon24			AATGACCTTCATC	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	ENST00000373388.2:c.-1905G>T	1.37:g.34164479C>A			45	0	0		50	0.06	3	NM_052896	0		0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373388.2	37		.	.	.	.	.	.	.	.	.	.	C	29.2	4.984803	0.93044	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.26660	1.72;1.72	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	H	0.94222	3.51	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	0.74006	-0.3803	10	0.72032	D	0.01	.	19.3155	0.94211	0.0:1.0:0.0:0.0	.	140;1227;1267	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	C	1267;140	ENSP00000362479:G1267C;ENSP00000362478:G140C	ENSP00000241312:G1227C	G	-	1	0	CSMD2	33937066	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.776000	0.85560	2.879000	0.98667	0.650000	0.86243	GGT			0.547	CSMD2-202	KNOWN	basic	protein_coding	protein_coding				NM_052896		A	34164479	C	A	34164479	1	1	19	1	0	1	0	0	0	0	0	0	3947	681	24	3		3	CSMD2	1	34164479	De_novo_Start_OutOfFrame	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	14954664	34164479	215086142	2	1185											
KIAA0467	23334	mdanderson.org	37	chr1	43908278	43908278	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagttggacttccccgtgCgagatgaaaaggtgcctgct	8	9	13	11	2	0	2	0	1	0	1	1	4	1	3	4	2	3	2	4	2	2	2			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr1:43908278C>T	ENST00000562955.1	+	57	7969	c.7969C>T	c.(7969-7971)Cga>Tga	p.R2657*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.R1815*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2714					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTTCCCCGTGCGAGATGAAAA	0.517																																					p.R2657X													SZT2_ENST00000562955,NS,carcinoma,0,6	SZT2_ENST00000562955	0	6	0			c.C7969T												88	90	89					1																	43908278		2203	4300	6503	SO:0001587	stop_gained	23334	exon57			CCCGTGCGAGATG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7969C>T	1.37:g.43908278C>T	ENSP00000457168:p.Arg2657*		36	0	0		31	0.1	3	NM_015284	42	0	0	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	48	14.644319	0.99804	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.6	5.6	0.85130	.	0.198895	0.42420	D	0.000719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6202	0.95653	0.0:1.0:0.0:0.0	.	.	.	.	X	1815	.	ENSP00000361519:R1815X	R	+	1	2	SZT2	43680865	1.000000	0.71417	0.997000	0.53966	0.794000	0.44872	5.821000	0.69257	2.649000	0.89929	0.655000	0.94253	CGA			0.517	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019517.3		NM_015284		T	43908278	C	T	43908278	4	4	19	1	0	0	0	0	0	1	0	0	8193	760	27	1	5605	1	KIAA0467	1	43908278	Nonsense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	9743799	43908278	205342343	3	1186											
ATL2	64225	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	38527452	38527452	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggaagttcttctccttGatagattttgatgtaagcct	9	17	9	6	0	2	3	0	2	2	1	3	4	2	4	2	1	1	2	2	1	3	7			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr2:38527452G>A	ENST00000378954.4	-	10	1091	c.1090C>T	c.(1090-1092)Caa>Taa	p.Q364*	ATL2_ENST00000546051.1_Nonsense_Mutation_p.Q193*|ATL2_ENST00000539122.1_Nonsense_Mutation_p.Q193*|ATL2_ENST00000406122.1_Nonsense_Mutation_p.Q193*|ATL2_ENST00000452935.2_Nonsense_Mutation_p.Q346*|ATL2_ENST00000419554.2_Nonsense_Mutation_p.Q364*|ATL2_ENST00000332337.4_Nonsense_Mutation_p.Q346*|ATL2_ENST00000402054.1_Nonsense_Mutation_p.Q193*	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	364					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TCTTCTCCTTGATAGATTTTG	0.358																																					p.Q364X													.	.			0			c.C1090T												138	136	137					2																	38527452		2203	4300	6503	SO:0001587	stop_gained	64225	exon10			CTCCTTGATAGAT		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1090C>T	2.37:g.38527452G>A	ENSP00000368237:p.Gln364*		25	0	0		24	0.25	6	NM_001135673	46	0.13	6	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Nonsense_Mutation	SNP	ENST00000378954.4	37	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	40	7.956548	0.98580	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-17.3875	18.7695	0.91885	0.0:0.0:1.0:0.0	.	.	.	.	X	364;193;193;193;346;364;346;193	.	ENSP00000333393:Q346X	Q	-	1	0	ATL2	38380956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.529000	0.98049	2.736000	0.93811	0.655000	0.94253	CAA			0.358	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219886.2		NM_022374		A	38527452	G	A	38527452	4	1	19	1	0	0	0	0	0	1	0	0	1107	1299	45	3	789	3	ATL2	2	38527452	Nonsense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		38527452	204671921	4	1187											
TMEM182	130827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	103380804	103380804	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagccaatcagccaccgtcCaagaactgcacacatgctta	13	7	6	15	1	1	1	1	0	0	1	2	1	2	1	4	0	5	2	4	0	5	2			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr2:103380804C>G	ENST00000412401.2	+	3	454	c.249C>G	c.(247-249)tcC>tcG	p.S83S	TMEM182_ENST00000409173.1_Silent_p.S40S|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_5'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	83						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						AGCCACCGTCCAAGAACTGCA	0.473																																					p.S83S													.	.			0			c.C249G												173	132	146					2																	103380804		2203	4300	6503	SO:0001819	synonymous_variant	130827	exon3			ACCGTCCAAGAAC	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.249C>G	2.37:g.103380804C>G			100	0	0		88	0.34	30	NM_144632	20	0.3	6	C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Silent	SNP	ENST00000412401.2	37	CCDS2064.1																																																																																					0.473	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253293.1		NM_144632		G	103380804	C	G	103380804	2	3	19	1	0	0	0	0	0	0	0	1	16124	581	21	5		5	TMEM182	2	103380804	Silent	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	64853352	103380804	139818569	5	1188											
KCNE4	23704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	223918008	223918008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaggagacctcggagacgCccctcaacgagagcagcgaa	12	3	14	12	4	1	3	1	0	0	3	2	8	1	4	3	3	3	1	3	3	2	0			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr2:223918008C>T	ENST00000281830.3	+	2	944	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	KCNE4_ENST00000604125.1_Missense_Mutation_p.P154S|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	205						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTCGGAGACGCCCCTCAACGA	0.637																																					p.P205S													.	.			0			c.C613T												32	37	36					2																	223918008		2203	4296	6499	SO:0001583	missense	23704	exon2			GAGACGCCCCTCA	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"Potassium channels"	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.613C>T	2.37:g.223918008C>T	ENSP00000281830:p.Pro205Ser		92	0	0		129	0.26	34	NM_080671	39	0.26	10	B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37		.	.	.	.	.	.	.	.	.	.	C	11.97	1.796529	0.31777	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.17	6.17	0.99709	.	0.352176	0.30473	N	0.009560	T	0.31544	0.0800	N	0.19112	0.55	0.31552	N	0.6586	B	0.27559	0.181	B	0.22880	0.042	T	0.26121	-1.0112	9	0.16420	T	0.52	-21.0667	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	154	Q8WWG9	KCNE4_HUMAN	S	154	.	ENSP00000281830:P154S	P	+	1	0	KCNE4	223626252	0.345000	0.24835	1.000000	0.80357	0.737000	0.42083	1.361000	0.34136	2.941000	0.99782	0.655000	0.94253	CCC			0.637	KCNE4-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000330997.2		NM_080671		T	223918008	C	T	223918008	3	4	19	1	0	0	0	0	1	0	0	0	8040	739	26	2	462	2	KCNE4	2	223918008	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	120537204	223918008	19281365	6	1189											
TSEN2	80746	broad.mit.edu	37	chr3	12544861	12544861	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattacacgaaaccgcttGagcatcctcctgtgaaaagg	13	8	10	10	2	0	2	0	2	0	0	2	4	2	3	3	2	3	2	3	2	4	2			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr3:12544861G>T	ENST00000284995.6	+	5	796	c.409G>T	c.(409-411)Gag>Tag	p.E137*	TSEN2_ENST00000402228.3_Nonsense_Mutation_p.E137*|TSEN2_ENST00000314571.7_Nonsense_Mutation_p.E137*|TSEN2_ENST00000454502.2_Nonsense_Mutation_p.E137*|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000444864.1_Nonsense_Mutation_p.E137*|TSEN2_ENST00000415684.1_Nonsense_Mutation_p.E137*|TSEN2_ENST00000383797.5_Nonsense_Mutation_p.E137*	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	137					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GAAACCGCTTGAGCATCCTCC	0.512																																					p.E137X													.	TSEN2	46		0			c.G409T												108	100	103					3																	12544861		2203	4300	6503	SO:0001587	stop_gained	80746	exon5			CCGCTTGAGCATC	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.409G>T	3.37:g.12544861G>T	ENSP00000284995:p.Glu137*		127	0	0		106	0.04	4	NM_001145394	32	0	0	B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Nonsense_Mutation	SNP	ENST00000284995.6	37	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	G	37	6.005520	0.97195	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	.	.	.	4.4	1.44	0.22558	.	0.375032	0.27172	N	0.020585	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.727	12.1571	0.54083	0.0:0.5158:0.4842:0.0	.	.	.	.	X	137;137;137;137;137;137;137;110;137	.	ENSP00000284995:E137X	E	+	1	0	TSEN2	12519861	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	0.194000	0.17135	0.176000	0.19873	0.609000	0.83330	GAG			0.512	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251981.1		NM_025265		T	12544861	G	T	12544861	4	4	19	1	0	0	0	0	0	1	0	0	16636	1291	45	3	423	3	TSEN2	3	12544861	Nonsense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		12544861	185477569	7	1190											
CMTM6	54918	mdanderson.org	37	chr3	32544117	32544117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagctgcaagcccttgaGaacgcgccggagcaatggga	11	4	13	13	3	0	1	0	1	0	1	0	4	0	3	3	2	5	3	3	2	3	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr3:32544117G>T	ENST00000205636.3	-	1	783	c.121C>A	c.(121-123)Ctc>Atc	p.L41I		NM_017801.2	NP_060271.1	Q9NX76	CKLF6_HUMAN	CKLF-like MARVEL transmembrane domain containing 6	41	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)	2						AAGCCCTTGAGAACGCGCCGG	0.726																																					p.L41I													.	.			0			c.C121A												7	10	9					3																	32544117		2166	4243	6409	SO:0001583	missense	54918	exon1			CCTTGAGAACGCG	AK000403	CCDS2653.1	3p22.2	2006-08-25	2005-11-08	2005-11-08	ENSG00000091317	ENSG00000091317			19177	protein-coding gene	gene with protein product		607889	"chemokine-like factor super family 6", "chemokine-like factor superfamily 6"	CKLFSF6			Standard	NM_017801		Approved	FLJ20396	uc003cfa.1	Q9NX76	OTTHUMG00000130747	ENST00000205636.3:c.121C>A	3.37:g.32544117G>T	ENSP00000205636:p.Leu41Ile		22	0	0		23	0.13	3	NM_017801	40	0	0	Q6IAC4	Missense_Mutation	SNP	ENST00000205636.3	37	CCDS2653.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233909	0.58886	.	.	ENSG00000091317	ENST00000205636	T	0.34275	1.37	4.64	-2.03	0.07365	Marvel (1);MARVEL-like domain (1);	0.373415	0.26241	N	0.025515	T	0.22704	0.0548	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.17098	0.017	T	0.13469	-1.0508	10	0.52906	T	0.07	.	1.3014	0.02080	0.3629:0.1388:0.3565:0.1418	.	41	Q9NX76	CKLF6_HUMAN	I	41	ENSP00000205636:L41I	ENSP00000205636:L41I	L	-	1	0	CMTM6	32519121	.	.	0.001000	0.08648	0.713000	0.41058	.	.	-0.561000	0.06094	0.467000	0.42956	CTC			0.726	CMTM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253247.1				T	32544117	G	T	32544117	3	4	19	1	0	0	0	0	1	0	0	0	3589	942	33	3	446	3	CMTM6	3	32544117	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	19999256	32544117	165478313	8	1191											
VPS8	23355	mdanderson.org	37	chr3	184682325	184682325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggagatattcatggtGccttcctaataatgttagag	14	12	10	5	0	1	3	1	0	0	3	2	4	2	3	2	2	1	1	2	2	5	6	rs373762204		TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr3:184682325G>T	ENST00000437079.3	+	38	3424	c.3253G>T	c.(3253-3255)Gcc>Tcc	p.A1085S	VPS8_ENST00000436792.2_Missense_Mutation_p.A1083S|VPS8_ENST00000446204.2_Missense_Mutation_p.A993S|VPS8_ENST00000287546.4_Missense_Mutation_p.A1085S	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1085							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TATTCATGGTGCCTTCCTAAT	0.289																																					p.A1085S													.	.			0			c.G3253T												93	93	93					3																	184682325		1691	3679	5370	SO:0001583	missense	23355	exon37			CATGGTGCCTTCC	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3253G>T	3.37:g.184682325G>T	ENSP00000397879:p.Ala1085Ser		48	0	0		52	0.06	3	NM_001009921	18	0	0	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593592	0.86953	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.36520	1.25;1.25;1.25;1.26	5.8	5.8	0.92144	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.81614	2.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	T	0.64892	-0.6300	10	0.54805	T	0.06	-0.8454	16.9805	0.86326	0.0:0.0:1.0:0.0	.	1085;993;1083	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	S	1085;1085;1083;993	ENSP00000287546:A1085S;ENSP00000397879:A1085S;ENSP00000404704:A1083S;ENSP00000405483:A993S	ENSP00000287546:A1085S	A	+	1	0	VPS8	186165019	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.718000	0.74713	2.751000	0.94390	0.650000	0.86243	GCC			0.289	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_015303		T	184682325	G	T	184682325	3	4	19	1	0	0	0	0	1	0	0	0	17242	1319	46	2	3395	2	VPS8	3	184682325	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	152138208	184682325	13340105	9	1192											
DGKQ	1609	mdanderson.org	37	chr4	960807	960807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgggccgtgctcttcGgggtcactcgcacggacacg	6	6	15	14	6	2	1	1	0	1	1	4	2	2	2	1	4	2	2	1	4	0	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr4:960807G>T	ENST00000273814.3	-	10	1329	c.1256C>A	c.(1255-1257)cCg>cAg	p.P419Q	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	419	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)			CGTGCTCTTCGGGGTCACTCG	0.721																																					p.P419Q	Esophageal Squamous(17;537 645 4447 26373)												.	.			0			c.C1256A												19	23	22					4																	960807		2157	4251	6408	SO:0001583	missense	1609	exon10			CTCTTCGGGGTCA	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.1256C>A	4.37:g.960807G>T	ENSP00000273814:p.Pro419Gln		35	0	0		26	0.08	2	NM_001347	12	0	0	Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	1.407	-0.576566	0.03854	.	.	ENSG00000145214	ENST00000273814	T	0.17528	2.27	3.77	2.04	0.26737	Ras-association (3);	0.542144	0.18633	N	0.135529	T	0.11196	0.0273	L	0.40543	1.245	0.09310	N	1	P;P	0.41624	0.757;0.757	B;B	0.38264	0.209;0.269	T	0.17501	-1.0367	10	0.20519	T	0.43	.	5.7679	0.18237	0.2432:0.0:0.7568:0.0	.	419;419	E9KL49;P52824	.;DGKQ_HUMAN	Q	419	ENSP00000273814:P419Q	ENSP00000273814:P419Q	P	-	2	0	DGKQ	950807	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-1.170000	0.03118	0.583000	0.29574	-0.142000	0.14014	CCG			0.721	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000200888.1				T	960807	G	T	960807	3	4	19	1	0	0	0	0	1	0	0	0	4478	1116	39	1	1628	1	DGKQ	4	960807	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		960807	190193469	10	1193											
KIAA1109	84162	bcgsc.ca;mdanderson.org	37	chr4	123120533	123120533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttacactcctgctattaaGggacaactcttacatgtgga	11	12	9	9	0	1	0	0	0	1	0	2	2	2	2	1	3	4	2	1	3	5	4			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr4:123120533G>T	ENST00000264501.4	+	14	1681	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.K436N|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.K436N			Q2LD37	K1109_HUMAN	KIAA1109	436					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						CTGCTATTAAGGGACAACTCT	0.363																																					p.K436N													.	KIAA1109	424		0			c.G1308T												191	161	171					4																	123120533		1848	4090	5938	SO:0001583	missense	84162	exon12			TATTAAGGGACAA	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.1308G>T	4.37:g.123120533G>T	ENSP00000264501:p.Lys436Asn		78	0	0		72	0.07	5	NM_015312	5	0	0	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.23|18.23	3.578374|3.578374	0.65878|0.65878	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|D;D;D	.|0.94184	.|-3.37;-3.37;-3.37	5.53|5.53	4.35|4.35	0.52113|0.52113	.|.	.|0.958552	.|0.08596	.|N	.|0.922248	D|D	0.95166|0.95166	0.8433|0.8433	L|L	0.48642|0.48642	1.525|1.525	0.54753|0.54753	D|D	0.999981|0.999981	.|D	.|0.71674	.|0.998	.|D	.|0.76071	.|0.987	D|D	0.89203|0.89203	0.3559|0.3559	5|10	.|0.41790	.|T	.|0.15	.|.	11.2948|11.2948	0.49272|0.49272	0.9285:0.0:0.0715:0.0|0.9285:0.0:0.0715:0.0	.|.	.|436	.|Q2LD37	.|K1109_HUMAN	W|N	269|436	.|ENSP00000264501:K436N;ENSP00000373390:K436N;ENSP00000389925:K436N	.|ENSP00000264501:K436N	G|K	+|+	1|3	0|2	KIAA1109|KIAA1109	123339983|123339983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.194000|5.194000	0.65125|0.65125	0.956000|0.956000	0.37904|0.37904	-0.312000|-0.312000	0.09012|0.09012	GGG|AAG			0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316415.1		NM_020797		T	123120533	G	T	123120533	3	4	19	1	0	0	0	0	1	0	0	0	8223	991	35	3	1354	3	KIAA1109	4	123120533	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	122159726	123120533	68033743	11	1194											
ZDHHC11	79844	ucsc.edu	37	chr5	840644	840644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagatgagcagctggcccagGtgcaccaagccaagaaagtc	14	4	12	11	0	0	3	0	1	0	2	1	3	0	3	3	2	4	3	3	2	4	0	rs200038670		TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr5:840644G>C	ENST00000283441.8	-	5	1133	c.750C>G	c.(748-750)caC>caG	p.H250Q	ZDHHC11_ENST00000511539.1_Missense_Mutation_p.H37Q|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.H250Q|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	250						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.H250Q(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCTGGCCCAGGTGCACCAAGC	0.602																																					p.H250Q													.	ZDHHC11	97		2	Substitution - Missense(2)	lung(2)	c.C750G												137	146	143					5																	840644		2203	4300	6503	SO:0001583	missense	79844	exon5			GCCCAGGTGCACC	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.750C>G	5.37:g.840644G>C	ENSP00000283441:p.His250Gln		34	0.0294117647	1		28	0.21	6	NM_024786	6	0.33	2	Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	g	5.277	0.236438	0.10023	.	.	ENSG00000188818	ENST00000424784;ENST00000283441;ENST00000511193;ENST00000511539	T;T;T;T	0.43688	1.86;1.86;0.99;0.94	2.74	-0.394	0.12434	.	642.914000	0.00961	U	0.003101	T	0.25494	0.0620	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.15870	0.014;0.001	T	0.27606	-1.0069	10	0.29301	T	0.29	-6.9343	13.336	0.60518	0.0:0.2548:0.7452:0.0	.	250;37	Q9H8X9;Q6UWR9	ZDH11_HUMAN;.	Q	250;250;25;37	ENSP00000397719:H250Q;ENSP00000283441:H250Q;ENSP00000426873:H25Q;ENSP00000427067:H37Q	ENSP00000283441:H250Q	H	-	3	2	ZDHHC11	893644	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.474000	0.06607	-0.110000	0.12022	-2.048000	0.00412	CAC			0.602	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206681.3		NM_024786		C	840644	G	C	840644	3	2	19	1	0	0	0	0	1	0	0	0	17624	1252	44	5	520	5	ZDHHC11	5	840644	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		840644	180074616	12	1195											
ZDHHC11	79844	ucsc.edu	37	chr5	840704	840704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgatgatcacgactatcagGgtctgcacctgcaccgggaa	10	7	11	13	3	3	1	2	1	1	0	3	4	3	2	3	2	2	2	3	2	2	1	rs139300052	byFrequency	TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr5:840704G>A	ENST00000283441.8	-	5	1073	c.690C>T	c.(688-690)acC>acT	p.T230T	ZDHHC11_ENST00000511539.1_Silent_p.T17T|ZDHHC11_ENST00000424784.2_Silent_p.T230T|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	230						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CGACTATCAGGGTCTGCACCT	0.567													G|||	34	0.00678914	0.0083	0	5008	,	,		28789	0.0208		0.002	False		,,,				2504	0				p.T230T													.	ZDHHC11	97		0			c.C690T												237	270	258					5																	840704		2203	4300	6503	SO:0001819	synonymous_variant	79844	exon5			TATCAGGGTCTGC	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.690C>T	5.37:g.840704G>A			36	0.0277777778	1		31	0.19	6	NM_024786	2	1	2	Q6UWR9	Silent	SNP	ENST00000283441.8	37	CCDS3857.1																																																																																					0.567	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206681.3		NM_024786		A	840704	G	A	840704	2	1	19	1	0	0	0	0	0	0	0	1	17624	1219	43	3		3	ZDHHC11	5	840704	Silent	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	60	840704	180074556	13	1196											
JARID2	3720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	15374463	15374463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatgcggaaggcattgctgGgagcctgaaaactgtgaatg	11	8	15	7	1	0	2	0	2	0	0	0	4	0	4	1	3	4	3	1	3	4	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr6:15374463G>A	ENST00000341776.2	+	2	405	c.161G>A	c.(160-162)gGg>gAg	p.G54E	JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	54					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)				GGCATTGCTGGGAGCCTGAAA	0.453																																					p.G54E													.	.			0			c.G161A												134	134	134					6																	15374463		2203	4300	6503	SO:0001583	missense	3720	exon2			TTGCTGGGAGCCT	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.161G>A	6.37:g.15374463G>A	ENSP00000341280:p.Gly54Glu		91	0	0		102	0.26	27	NM_004973	19	0.37	7	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276368	0.80580	.	.	ENSG00000008083	ENST00000341776	T	0.54071	0.59	5.07	5.07	0.68467	.	0.114027	0.64402	D	0.000013	T	0.43144	0.1234	L	0.50333	1.59	0.80722	D	1	P	0.43477	0.808	B	0.42112	0.376	T	0.52719	-0.8538	10	0.72032	D	0.01	-16.7274	18.4912	0.90848	0.0:0.0:1.0:0.0	.	54	Q92833	JARD2_HUMAN	E	54	ENSP00000341280:G54E	ENSP00000341280:G54E	G	+	2	0	JARID2	15482442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.944000	0.70219	2.368000	0.80403	0.655000	0.94253	GGG			0.453	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039926.1		NM_004973		A	15374463	G	A	15374463	3	1	19	1	0	0	0	0	1	0	0	0	7960	1232	43	3	167	3	JARID2	6	15374463	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		15374463	155740604	14	1197											
VARS2	57176	bcgsc.ca	37	chr6	30890754	30890754	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctcccatggagttcaggGtaagcctgggcgaggggtgt	6	9	17	9	1	1	0	1	0	0	0	2	2	2	1	2	5	2	3	2	5	1	2			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr6:30890754G>T	ENST00000321897.5	+	22	2817		c.e22+1		VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000476162.1_Splice_Site|VARS2_ENST00000416670.2_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGAGTTCAGGGTAAGCCTGGG	0.607																																					.													.	VARS2	60		0			c.2185+1G>T												75	82	79					6																	30890754		1509	2707	4216	SO:0001630	splice_region_variant	57176	exon23			TTCAGGGTAAGCC	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2185+1G>T	6.37:g.30890754G>T			92	0.0108695652	1		150	0.04	6	NM_020442	0		0	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Splice_Site	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244229	0.59103	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9531	0.86251	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VARS2	30998733	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	8.889000	0.92470	2.686000	0.91538	0.561000	0.74099	.			0.607	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076566.2		NM_020442	Intron	T	30890754	G	T	30890754	5	4	19	1	0	0	0	0	0	0	1	0	17148	1275	44	3	2366	3	VARS2	6	30890754	Splice_Site	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	15516291	30890754	140224313	15	1198											
RUNX2	860	mdanderson.org	37	chr6	45390498	45390498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggaggcggcggcggCggctgcggcggcggcggcgg	3	1	25	12	9	0	0	0	0	0	0	0	1	0	1	0	11	2	3	0	11	0	0			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr6:45390498C>A	ENST00000371438.1	+	2	585	c.227C>A	c.(226-228)gCg>gAg	p.A76E	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Missense_Mutation_p.A76E|RUNX2_ENST00000371436.6_Missense_Mutation_p.A76E|RUNX2_ENST00000371432.3_Missense_Mutation_p.A62E|RUNX2_ENST00000359524.5_Missense_Mutation_p.A62E|RUNX2_ENST00000541979.1_Missense_Mutation_p.A144E|RUNX2_ENST00000576263.1_Missense_Mutation_p.A76E|RUNX2_ENST00000352853.5_Missense_Mutation_p.A144E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	76	Poly-Ala.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcggcggcggcggctgcggcg	0.726																																					p.A76E													.	.			0			c.C227A												3	6	5					6																	45390498		1038	2382	3420	SO:0001583	missense	860	exon3			CGGCGGCGGCTGC	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.227C>A	6.37:g.45390498C>A	ENSP00000360493:p.Ala76Glu		9	0	0		16	0.13	2	NM_001024630	1	0	0	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	7.966	0.748078	0.15710	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	2.95	2.95	0.34219	.	0.453907	0.16126	N	0.228395	T	0.44726	0.1307	N	0.14661	0.345	0.33802	D	0.626795	B;B;B	0.31837	0.342;0.231;0.342	B;B;B	0.38056	0.264;0.135;0.264	T	0.25433	-1.0132	10	0.10111	T	0.7	.	11.9419	0.52905	0.0:1.0:0.0:0.0	.	144;76;62	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	76;144;144;76;76;62;62	ENSP00000420707:A76E;ENSP00000319087:A144E;ENSP00000446290:A144E;ENSP00000360493:A76E;ENSP00000360491:A76E;ENSP00000352514:A62E;ENSP00000360486:A62E	ENSP00000319087:A144E	A	+	2	0	RUNX2	45498476	0.998000	0.40836	0.988000	0.46212	0.871000	0.50021	0.187000	0.16998	1.349000	0.45751	0.407000	0.27541	GCG			0.726	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040755.2		NM_004348		A	45390498	C	A	45390498	3	1	19	1	0	0	0	0	1	0	0	0	13771	768	27	1	249	1	RUNX2	6	45390498	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	14499744	45390498	125724569	16	1199											
C6orf165	154313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	88119658	88119658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctgaaactctgattgCttttatggtaagaagaaata	13	16	8	4	0	2	4	0	2	2	2	2	4	2	4	0	1	2	3	0	1	6	6			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr6:88119658C>G	ENST00000507897.1	+	2	184	c.101C>G	c.(100-102)gCt>gGt	p.A34G	C6ORF165_ENST00000369562.4_Missense_Mutation_p.A34G			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	34										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTCTGATTGCTTTTATGGTA	0.358																																					p.A34G													.	.			0			c.C101G												127	131	130					6																	88119658		2203	4300	6503	SO:0001583	missense	154313	exon2			TGATTGCTTTTAT	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.101C>G	6.37:g.88119658C>G	ENSP00000426769:p.Ala34Gly		53	0	0		23	0.43	10	NM_001031743	12	0.58	7	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469569	0.63625	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.37752	1.25;1.18	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	L	0.57536	1.79	0.80722	D	1	P;P	0.49307	0.512;0.922	B;P	0.44518	0.228;0.452	T	0.09185	-1.0686	10	0.44086	T	0.13	.	18.5254	0.90969	0.0:1.0:0.0:0.0	.	34;34	Q8IYR0;E1P509	CF165_HUMAN;.	G	34	ENSP00000358575:A34G;ENSP00000422494:A34G	ENSP00000358575:A34G	A	+	2	0	C6orf165	88176377	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.003000	0.76310	2.521000	0.84997	0.655000	0.94253	GCT			0.358	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding		OTTHUMT00000470406.1		NM_178823		G	88119658	C	G	88119658	3	3	19	1	0	0	0	0	1	0	0	0	2343	797	28	5	103	5	C6orf165	6	88119658	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	42729160	88119658	82995409	17	1200											
SERINC1	57515	mdanderson.org	37	chr6	122773072	122773072	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacattacagaagcaccaacGcagaggagcatgttgacact	15	6	10	10	1	0	3	0	1	0	2	0	5	0	4	1	1	4	4	1	1	3	2			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr6:122773072G>T	ENST00000339697.4	-	6	804	c.720C>A	c.(718-720)tgC>tgA	p.C240*		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	240					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AAGCACCAACGCAGAGGAGCA	0.383																																					p.C240X													.	.			0			c.C720A												97	85	89					6																	122773072		2203	4300	6503	SO:0001587	stop_gained	57515	exon6			ACCAACGCAGAGG	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.720C>A	6.37:g.122773072G>T	ENSP00000342962:p.Cys240*		44	0	0		50	0.06	3	NM_020755	201	0	0	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Nonsense_Mutation	SNP	ENST00000339697.4	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517088	0.96416	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	.	.	.	5.71	3.91	0.45181	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3065	10.8122	0.46553	0.2584:0.0:0.7416:0.0	.	.	.	.	X	240	.	ENSP00000342962:C240X	C	-	3	2	SERINC1	122814771	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	3.904000	0.56325	0.740000	0.32651	0.650000	0.86243	TGC			0.383	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042031.2		NM_020755		T	122773072	G	T	122773072	4	4	19	1	0	0	0	0	0	1	0	0	14102	1079	38	1	661	1	SERINC1	6	122773072	Nonsense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	34653414	122773072	48341995	18	1201											
VNN1	8876	broad.mit.edu;mdanderson.org	37	chr6	133013412	133013412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccgtcaaatgcccctaGagcgtacacttcatttggta	10	11	8	12	2	2	1	2	0	0	1	3	1	3	1	3	1	3	2	3	1	4	5			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr6:133013412G>T	ENST00000367928.4	-	5	1151	c.1138C>A	c.(1138-1140)Cta>Ata	p.L380I		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	380					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AATGCCCCTAGAGCGTACACT	0.403																																					p.L380I													.	VNN1	69		0			c.C1138A												112	107	108					6																	133013412		2203	4300	6503	SO:0001583	missense	8876	exon5			CCCCTAGAGCGTA	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1138C>A	6.37:g.133013412G>T	ENSP00000356905:p.Leu380Ile		121	0	0		80	0.06	5	NM_004666	1	0	0	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230367	0.39399	.	.	ENSG00000112299	ENST00000367928	D	0.95853	-3.83	5.7	0.513	0.17000	.	0.212122	0.32175	N	0.006476	D	0.95014	0.8386	M	0.92268	3.29	0.09310	N	1	P	0.47350	0.894	P	0.50860	0.652	D	0.91124	0.4932	10	0.72032	D	0.01	-28.8786	8.0056	0.30323	0.2526:0.1071:0.6404:0.0	.	380	O95497	VNN1_HUMAN	I	380	ENSP00000356905:L380I	ENSP00000356905:L380I	L	-	1	2	VNN1	133055105	0.948000	0.32251	0.038000	0.18304	0.205000	0.24178	1.526000	0.35964	0.322000	0.23283	0.563000	0.77884	CTA			0.403	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042263.1				T	133013412	G	T	133013412	3	4	19	1	0	0	0	0	1	0	0	0	17206	933	33	3	415	3	VNN1	6	133013412	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	10240340	133013412	38101655	19	1202											
MUC17	140453	hgsc.bcm.edu	37	chr7	100682117	100682117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtggtcagttctgaggctGgcaccctttccacaactcct	6	11	10	14	1	2	1	1	1	1	0	4	1	4	1	3	4	1	3	3	4	1	2	rs555953599	byFrequency	TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr7:100682117G>A	ENST00000306151.4	+	3	7484	c.7420G>A	c.(7420-7422)Ggc>Agc	p.G2474S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2474	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)					TTCTGAGGCTGGCACCCTTTC	0.522													N|||	3	0.000599042	0	0	5008	,	,		27478	0		0	False		,,,				2504	0.0031				p.G2474S													MUC17,right_upper_lobe,carcinoma,-2,1	MUC17	-2	1	0			c.G7420A																																									SO:0001583	missense	140453	exon3			GAGGCTGGCACCC	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.7420G>A	7.37:g.100682117G>A	ENSP00000302716:p.Gly2474Ser		82	0	0		104	0.06	6	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	2.617	-0.289370	0.05605	.	.	ENSG00000169876	ENST00000306151	T	0.03468	3.92	0.869	-0.297	0.12820	.	.	.	.	.	T	0.01254	0.0041	N	0.02916	-0.46	0.09310	N	1	B	0.27286	0.174	B	0.19148	0.024	T	0.45131	-0.9282	9	0.02654	T	1	.	5.8185	0.18514	0.4085:0.0:0.5915:0.0	.	2474	Q685J3	MUC17_HUMAN	S	2474	ENSP00000302716:G2474S	ENSP00000302716:G2474S	G	+	1	0	MUC17	100468837	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.476000	0.06591	-0.655000	0.05387	-1.616000	0.00795	GGC			0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		A	100682117	G	A	100682117	3	1	19	1	0	0	0	0	1	0	0	0	9990	1348	47	3	7430	3	MUC17	7	100682117	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		100682117	58456546	20	1203											
EBAG9	9166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	110569202	110569202	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccattgaattttggcatCccagatgggagcacaggttt	11	11	11	8	0	0	2	0	1	0	1	1	4	1	3	2	3	2	3	2	3	2	4			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr8:110569202C>A	ENST00000337573.5	+	5	660	c.360C>A	c.(358-360)atC>atA	p.I120I	EBAG9_ENST00000531677.1_Silent_p.I120I|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Silent_p.I120I	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	120					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ATTTTGGCATCCCAGATGGGA	0.343																																					p.I120I													.	.			0			c.C360A												98	91	93					8																	110569202		2203	4299	6502	SO:0001819	synonymous_variant	9166	exon5			TGGCATCCCAGAT	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.360C>A	8.37:g.110569202C>A			100	0	0		158	0.23	37	NM_004215	111	0.23	26	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Silent	SNP	ENST00000337573.5	37	CCDS6313.1																																																																																					0.343	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383536.1		NM_004215		A	110569202	C	A	110569202	2	1	19	1	0	0	0	0	0	0	0	1	4884	845	30	3		3	EBAG9	8	110569202	Silent	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10		110569202	35794820	21	1204											
ZHX1	11244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	124267671	124267671	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatagatattcccgaagaAgaaacttctgtagattctgc	13	12	8	8	1	2	5	0	1	2	4	3	6	3	5	1	0	2	1	1	0	6	6			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr8:124267671A>G	ENST00000522655.1	-	3	1056	c.516T>C	c.(514-516)tcT>tcC	p.S172S	ZHX1_ENST00000395571.3_Silent_p.S172S|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.S172S			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	172					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCCGAAGAAGAAACTTCTG	0.338																																					p.S172S													.	.			0			c.T516C												103	104	104					8																	124267671		2203	4300	6503	SO:0001819	synonymous_variant	11244	exon3			CGAAGAAGAAACT	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.516T>C	8.37:g.124267671A>G			74	0	0		139	0.22	30	NM_007222	21	0.19	4	Q8IWD8	Silent	SNP	ENST00000522655.1	37	CCDS6342.1																																																																																					0.338	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000381759.1				G	124267671	A	G	124267671	2	3	19	1	0	0	0	0	0	0	0	1	17698	59	3	4		4	ZHX1	8	124267671	Silent	SNP	A	TCGA-2G-AAG3-01A-11D-A42Y-10	13698469	124267671	22096351	22	1205											
PPP1R16A	84988	mdanderson.org	37	chr8	145726559	145726559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgcaccgacctgtaccGcaagcagcacgcccaggagg	10	2	12	17	4	0	0	0	0	0	0	0	2	0	1	5	2	4	5	5	2	2	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr8:145726559G>T	ENST00000292539.4	+	10	2002	c.1085G>T	c.(1084-1086)cGc>cTc	p.R362L	GPT_ENST00000394955.2_5'Flank|CTD-2517M22.14_ENST00000532766.1_RNA|GPT_ENST00000528431.1_5'Flank|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R362L|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	362						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	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)			GACCTGTACCGCAAGCAGCAC	0.697																																					p.R362L													.	.			0			c.G1085T												24	25	24					8																	145726559		2188	4285	6473	SO:0001583	missense	84988	exon9			TGTACCGCAAGCA		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1085G>T	8.37:g.145726559G>T	ENSP00000292539:p.Arg362Leu		13	0	0		35	0.09	3	NM_032902	70	0	0	D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	CCDS6429.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.195103|5.195103	0.94960|0.94960	.|.	.|.	ENSG00000160972|ENSG00000160972	ENST00000528430|ENST00000292539;ENST00000435887	.|T;T	.|0.72394	.|-0.65;-0.65	4.72|4.72	3.78|3.78	0.43462|0.43462	.|.	.|0.062558	.|0.64402	.|D	.|0.000007	T|T	0.81403|0.81403	0.4815|0.4815	M|M	0.73962|0.73962	2.25|2.25	0.53688|0.53688	D|D	0.999979|0.999979	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.82123|0.82123	-0.0613|-0.0613	5|10	.|0.51188	.|T	.|0.08	.|.	11.3091|11.3091	0.49353|0.49353	0.0:0.0:0.817:0.183|0.0:0.0:0.817:0.183	.|.	.|362	.|Q96I34	.|PP16A_HUMAN	S|L	30|362	.|ENSP00000292539:R362L;ENSP00000391126:R362L	.|ENSP00000292539:R362L	A|R	+|+	1|2	0|0	PPP1R16A|PPP1R16A	145697367|145697367	0.987000|0.987000	0.35691|0.35691	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	3.895000|3.895000	0.56258|0.56258	2.153000|2.153000	0.67306|0.67306	0.462000|0.462000	0.41574|0.41574	GCA|CGC			0.697	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382459.1		NM_032902		T	145726559	G	T	145726559	3	4	19	1	0	0	0	0	1	0	0	0	12385	1087	38	1	1119	1	PPP1R16A	8	145726559	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	21458888	145726559	637463	23	1206											
WNT8B	7479	mdanderson.org	37	chr10	102242036	102242036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccccaggcggtgaaGggcaccatgaaacgcacgtg	9	6	12	14	3	1	2	0	2	1	0	3	2	2	2	3	3	1	2	3	3	2	0			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr10:102242036G>T	ENST00000343737.5	+	6	647	c.519G>T	c.(517-519)aaG>aaT	p.K173N		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	173					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AGGCGGTGAAGGGCACCATGA	0.627											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K173N													.	.			0			c.G519T												16	17	17					10																	102242036		2191	4279	6470	SO:0001583	missense	7479	exon6			GGTGAAGGGCACC	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.519G>T	10.37:g.102242036G>T	ENSP00000340677:p.Lys173Asn		9	0	0	1365	9	0.22	2	NM_003393	0		0	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640290	0.67244	.	.	ENSG00000075290	ENST00000343737	T	0.76839	-1.05	5.43	4.5	0.54988	.	0.086425	0.85682	D	0.000000	D	0.83376	0.5241	M	0.78049	2.395	0.51767	D	0.999939	D	0.67145	0.996	D	0.68039	0.955	T	0.81176	-0.1052	10	0.31617	T	0.26	.	4.0893	0.09962	0.1896:0.0:0.6098:0.2006	.	173	Q93098	WNT8B_HUMAN	N	173	ENSP00000340677:K173N	ENSP00000340677:K173N	K	+	3	2	WNT8B	102232026	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.489000	0.45285	1.250000	0.43966	0.462000	0.41574	AAG			0.627	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049867.1		NM_003393		T	102242036	G	T	102242036	3	4	19	1	0	0	0	0	1	0	0	0	17421	991	35	3	541	3	WNT8B	10	102242036	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		102242036	33292711	24	1207											
SORCS1	114815	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	108338921	108338921	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagtctgagggacattggGcctgctttcagagtgactga	8	12	13	8	0	3	4	2	3	1	1	3	5	3	5	1	2	1	1	1	2	0	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr10:108338921G>T	ENST00000263054.6	-	25	3379				SORCS1_ENST00000369698.1_Missense_Mutation_p.P689T|SORCS1_ENST00000344440.6_Missense_Mutation_p.P1154T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGGACATTGGGCCTGCTTTCA	0.463																																					p.P1154T													.	SORCS1	534		0			c.C3460A												141	128	132					10																	108338921		2203	4300	6503	SO:0001627	intron_variant	114815	exon26			CATTGGGCCTGCT	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3371+205C>A	10.37:g.108338921G>T			95	0.0105263158	1		110	0.06	7	NM_001206572	4	0	0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503700	0.26949	.	.	ENSG00000108018	ENST00000369698;ENST00000344440	T;T	0.22134	1.97;2.53	5.9	4.03	0.46877	.	0.219926	0.40469	N	0.001097	T	0.24122	0.0584	L	0.29908	0.895	0.42866	D	0.994129	B;P	0.41546	0.059;0.754	B;P	0.47573	0.076;0.55	T	0.01283	-1.1396	9	.	.	.	-5.616	16.9503	0.86243	0.0:0.2244:0.7756:0.0	.	1154;1154	Q8WY21-3;Q8WY21-2	.;.	T	689;1154	ENSP00000358712:P689T;ENSP00000345964:P1154T	.	P	-	1	0	SORCS1	108328911	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.123000	0.50453	0.820000	0.34516	0.455000	0.32223	CCC			0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050232.4		NM_052918		T	108338921	G	T	108338921	1	4	19	0	1	0	0	0	0	0	0	0	14953	1203	42	2		2	SORCS1	10	108338921	Intron	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	6096885	108338921	27195826	25	1208											
EMX2	2018	broad.mit.edu	37	chr10	119303017	119303017	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggtctcgcacccgcccaAccccgccgtgccagtgcacc	5	4	11	21	5	1	0	0	0	1	0	2	0	1	0	7	2	3	2	7	2	1	0			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr10:119303017A>C	ENST00000553456.3	+	1	1063	c.239A>C	c.(238-240)aAc>aCc	p.N80T	EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000440007.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.N80T|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	80					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CACCCGCCCAACCCCGCCGTG	0.741																																					p.N80T													EMX2,NS,carcinoma,0,1	EMX2	25	1	0			c.A239C												13	16	15					10																	119303017		2185	4241	6426	SO:0001583	missense	2018	exon1			CGCCCAACCCCGC	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.239A>C	10.37:g.119303017A>C	ENSP00000450962:p.Asn80Thr		58	0.1551724138	9		68	0.35	24	NM_001165924	11	0.09	1	G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	A	0.961	-0.703392	0.03255	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91011	-2.77	5.91	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	N	0.08118	0	0.58432	D	0.999995	P;B	0.44816	0.844;0.062	B;B	0.41764	0.366;0.015	T	0.76743	-0.2847	10	0.10377	T	0.69	-20.6656	12.7121	0.57096	0.7406:0.2594:0.0:0.0	.	80;80	G3V305;Q04743	.;EMX2_HUMAN	T	80	ENSP00000450962:N80T	ENSP00000358202:N80T	N	+	2	0	AC005871.1;EMX2	119293007	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	5.813000	0.69201	1.055000	0.40461	-0.272000	0.10252	AAC			0.741	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050569.4		NM_004098		C	119303017	A	C	119303017	3	2	19	1	0	0	0	0	1	0	0	0	5115	43	2	4	241	4	EMX2	10	119303017	Missense_Mutation	SNP	A	TCGA-2G-AAG3-01A-11D-A42Y-10	10964096	119303017	16231730	26	1209											
CTBP2	1488	bcgsc.ca	37	chr10	126678129	126678129	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgattgtccccgtgttttgtGggctggttgggagagggcgc	3	12	18	8	3	0	1	0	0	0	1	1	3	1	1	2	4	0	3	2	4	0	4	rs367739342		TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr10:126678129G>T	ENST00000337195.5	-	11	1695	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	CTBP2_ENST00000334808.6_Silent_p.P500P|CTBP2_ENST00000494626.2_Silent_p.P432P|CTBP2_ENST00000531469.1_Silent_p.P432P|CTBP2_ENST00000309035.6_Silent_p.P972P|CTBP2_ENST00000411419.2_Silent_p.P432P	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	432					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGTGTTTTGTGGGCTGGTTGG	0.542																																					p.P972P													.	CTBP2	100		0			c.C2916A												87	89	88					10																	126678129		2203	4300	6503	SO:0001819	synonymous_variant	1488	exon9			TTTTGTGGGCTGG	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1296C>A	10.37:g.126678129G>T			56	0	0		62	0.06	4	NM_022802	262	0	0	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	CCDS7643.1																																																																																					0.542	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050900.3		NM_001083914		T	126678129	G	T	126678129	2	4	19	1	0	0	0	0	0	0	0	1	4000	1335	47	3		3	CTBP2	10	126678129	Silent	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	7375112	126678129	8856618	27	1210											
ODF3	113746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	199447	199447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtacaccatggctgccCgtgtggagcccccaggggac	7	5	14	15	2	0	0	0	0	0	0	0	2	0	2	4	4	3	3	4	4	1	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr11:199447C>A	ENST00000325113.4	+	6	930	c.613C>A	c.(613-615)Cgt>Agt	p.R205S	ODF3_ENST00000525282.1_Intron|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	205					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)		p.R205C(1)		biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATGGCTGCCCGTGTGGAGCC	0.642																																					p.R205S													ODF3,face,carcinoma,0,1	ODF3	0	1	1	Substitution - Missense(1)	skin(1)	c.C613A												28	24	25					11																	199447		2190	4280	6470	SO:0001583	missense	113746	exon6			GCTGCCCGTGTGG	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"cancer/testis antigen 135"	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.613C>A	11.37:g.199447C>A	ENSP00000325868:p.Arg205Ser		89	0	0		88	0.42	37	NM_053280	0		0	B7ZLT0|Q69YX0	Missense_Mutation	SNP	ENST00000325113.4	37	CCDS7688.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188222	0.78789	.	.	ENSG00000177947	ENST00000325113	T	0.39229	1.09	5.0	5.0	0.66597	.	0.000000	0.42964	D	0.000629	T	0.65852	0.2731	M	0.89095	3.005	0.80722	D	1	D	0.61697	0.99	P	0.61800	0.894	T	0.70901	-0.4746	10	0.51188	T	0.08	-14.0033	13.6637	0.62382	0.0:1.0:0.0:0.0	.	205	Q96PU9	ODF3A_HUMAN	S	205	ENSP00000325868:R205S	ENSP00000325868:R205S	R	+	1	0	ODF3	189447	0.757000	0.28394	0.999000	0.59377	0.863000	0.49368	0.632000	0.24583	2.579000	0.87056	0.561000	0.74099	CGT			0.642	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239287.1				A	199447	C	A	199447	3	1	19	1	0	0	0	0	1	0	0	0	10846	652	23	1	631	1	ODF3	11	199447	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10		199447	134807069	28	1211											
MUC6	4588	bcgsc.ca	37	chr11	1016871	1016871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taggacctgtggaagagaagGgactgctccctgtaggtggg	9	8	17	7	0	0	1	0	0	0	1	1	5	1	4	2	5	1	2	2	5	4	2	rs554068781		TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr11:1016871G>T	ENST00000421673.2	-	31	5980	c.5930C>A	c.(5929-5931)cCc>cAc	p.P1977H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1977	Thr-rich.				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)		GGAAGAGAAGGGACTGCTCCC	0.587																																					p.P1977H													.	MUC6	408		0			c.C5930A												1308	1300	1302					11																	1016871		2203	4299	6502	SO:0001583	missense	4588	exon31			GAGAAGGGACTGC	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.5930C>A	11.37:g.1016871G>T	ENSP00000406861:p.Pro1977His		337	0.0118694362	4		277	0.04	12	NM_005961	1	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923756	0.34002	.	.	ENSG00000184956	ENST00000421673	T	0.18657	2.2	2.69	1.71	0.24356	.	.	.	.	.	T	0.14614	0.0353	L	0.29908	0.895	0.09310	N	1	B	0.29212	0.237	B	0.28553	0.091	T	0.22382	-1.0218	9	0.56958	D	0.05	.	7.0992	0.25327	0.0:0.0:0.7301:0.2699	.	1977	Q6W4X9	MUC6_HUMAN	H	1977	ENSP00000406861:P1977H	ENSP00000406861:P1977H	P	-	2	0	MUC6	1006871	0.015000	0.18098	0.001000	0.08648	0.026000	0.11368	1.250000	0.32850	0.416000	0.25844	0.306000	0.20318	CCC			0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		T	1016871	G	T	1016871	3	4	19	1	0	0	0	0	1	0	0	0	9996	1232	43	3	1401	3	MUC6	11	1016871	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	817424	1016871	133989645	29	1212											
MUC2	4583	mdanderson.org	37	chr11	1092966	1092966	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accactacggtgaccccaacCccaacacccaccggcacaca	13	2	5	21	2	0	1	0	1	0	0	0	1	0	1	7	2	3	1	7	2	3	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr11:1092966C>A	ENST00000441003.2	+	30	4812	c.4785C>A	c.(4783-4785)acC>acA	p.T1595T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	tgaccccaaccccaacaccca	0.637																																					p.T1595T													.	.			0			c.C4785A												48	83	71					11																	1092966		1785	3239	5024	SO:0001819	synonymous_variant	4583	exon30			CCCAACCCCAACA	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.4785C>A	11.37:g.1092966C>A			30	0.0333333333	1		31	0.06	2	NM_002457	17	0.06	1	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		A	1092966	C	A	1092966	2	1	19	1	0	0	0	0	0	0	0	1	9991	610	22	3		3	MUC2	11	1092966	Silent	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	76095	1092966	133913550	30	1213											
FOLH1	2346	bcgsc.ca	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				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)	GCCTATAAGCATATTCTGAAA	0.343																																					p.Y277Y													.	FOLH1	141		0			c.T831C												61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346	exon7			ATAAGCATATTCT	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.831T>C	11.37:g.49204790A>G			136	0.0147058824	2		113	0.05	6	NM_004476	9	0	0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																					0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390896.1		NM_004476		G	49204790	A	G	49204790	2	3	19	1	0	0	0	0	0	0	0	1	5992	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-2G-AAG3-01A-11D-A42Y-10	48111824	49204790	85801726	31	1214											
ATG2A	23130	mdanderson.org	37	chr11	64662838	64662838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctgcgcagcctccgcGcagagcgcttatcctgcagg	5	6	13	17	4	0	1	0	0	0	1	2	1	2	1	5	2	4	4	5	2	1	1	rs370496305		TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr11:64662838G>T	ENST00000377264.3	-	40	5616	c.5504C>A	c.(5503-5505)gCg>gAg	p.A1835E	ATG2A_ENST00000421419.2_Missense_Mutation_p.A1837E	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1835					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						CAGCCTCCGCGCAGAGCGCTT	0.701																																					p.A1835E													.	.			0			c.C5504A												21	25	24					11																	64662838		2197	4287	6484	SO:0001583	missense	23130	exon40			CTCCGCGCAGAGC		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.5504C>A	11.37:g.64662838G>T	ENSP00000366475:p.Ala1835Glu		53	0	0		34	0.09	3	NM_015104	39	0	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.020|0.020	-1.434541|-1.434541	0.01108|0.01108	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264|ENST00000418259	T;T|.	0.06687|.	3.27;3.27|.	3.29|3.29	1.23|1.23	0.21249|0.21249	.|.	0.283915|.	0.26753|.	N|.	0.022661|.	T|.	0.14743|.	0.0356|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;P|.	0.36354|.	0.549;0.493|.	B;B|.	0.32211|.	0.142;0.087|.	T|.	0.24012|.	-1.0172|.	10|.	0.05721|.	T|.	0.95|.	.|.	2.9965|2.9965	0.06000|0.06000	0.1964:0.2952:0.5084:0.0|0.1964:0.2952:0.5084:0.0	.|.	1835;1837|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	E|X	1837;228;1835|1638	ENSP00000410522:A1837E;ENSP00000366475:A1835E|.	ENSP00000366473:A228E|.	A|C	-|-	2|3	0|2	ATG2A|ATG2A	64419414|64419414	0.005000|0.005000	0.15991|0.15991	0.008000|0.008000	0.14137|0.14137	0.300000|0.300000	0.27592|0.27592	1.586000|1.586000	0.36611|0.36611	0.168000|0.168000	0.19655|0.19655	0.561000|0.561000	0.74099|0.74099	GCG|TGC			0.701	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000143224.1		NM_015104		T	64662838	G	T	64662838	3	4	19	1	0	0	0	0	1	0	0	0	1093	1087	38	1	320	1	ATG2A	11	64662838	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	15458048	64662838	70343678	32	1215											
ATG2A	23130	mdanderson.org	37	chr11	64677638	64677638	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggccagttctgagtggcaAtggcaggcaactgagcgccg	9	6	16	10	2	1	2	0	2	1	0	1	2	1	2	2	4	2	4	2	4	2	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr11:64677638A>G	ENST00000377264.3	-	13	1849	c.1737T>C	c.(1735-1737)caT>caC	p.H579H	ATG2A_ENST00000421419.2_Silent_p.H579H	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	579					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						CTGAGTGGCAATGGCAGGCAA	0.687																																					p.H579H													.	.			0			c.T1737C												28	34	32					11																	64677638		2185	4266	6451	SO:0001819	synonymous_variant	23130	exon13			GTGGCAATGGCAG		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.1737T>C	11.37:g.64677638A>G			52	0	0		42	0.07	3	NM_015104	34	0	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1																																																																																					0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000143224.1		NM_015104		G	64677638	A	G	64677638	2	3	19	1	0	0	0	0	0	0	0	1	1093	98	4	4		4	ATG2A	11	64677638	Silent	SNP	A	TCGA-2G-AAG3-01A-11D-A42Y-10	14800	64677638	70328878	33	1216											
PCNXL3	399909	mdanderson.org	37	chr11	65394937	65394937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgctcagccttctgctgcCccccacagcagtacctgacg	6	8	9	18	2	2	1	1	1	1	0	2	1	2	1	5	0	6	4	5	0	1	2			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr11:65394937C>T	ENST00000355703.3	+	22	4125	c.3586C>T	c.(3586-3588)Ccc>Tcc	p.P1196S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1196						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTTCTGCTGCCCCCCACAGCA	0.632																																					p.P1196S													.	.			0			c.C3586T												99	103	102					11																	65394937		2082	4213	6295	SO:0001583	missense	399909	exon22			TGCTGCCCCCCAC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3586C>T	11.37:g.65394937C>T	ENSP00000347931:p.Pro1196Ser		69	0	0		50	0.06	3	NM_032223	39	0	0	Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963913	0.74131	.	.	ENSG00000197136	ENST00000355703	T	0.10573	2.86	5.47	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.24812	0.0602	M	0.80183	2.485	0.45183	D	0.998192	P;B	0.47034	0.889;0.384	P;B	0.54312	0.748;0.113	T	0.01140	-1.1439	10	0.52906	T	0.07	.	7.5653	0.27874	0.163:0.7532:0.0:0.0838	.	83;1196	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	S	1196	ENSP00000347931:P1196S	ENSP00000347931:P1196S	P	+	1	0	PCNXL3	65151513	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.787000	0.85759	1.454000	0.47793	0.655000	0.94253	CCC			0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390321.1		NM_032223		T	65394937	C	T	65394937	3	4	19	1	0	0	0	0	1	0	0	0	11610	623	22	3	3672	3	PCNXL3	11	65394937	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	717299	65394937	69611579	34	1217											
YIF1A	10897	mdanderson.org	37	chr11	66052939	66052939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtagaggcccaggagcaggGccagcacctccatcaccacc	10	3	12	16	0	1	1	1	0	0	1	2	2	2	2	6	4	2	3	6	4	1	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr11:66052939G>T	ENST00000376901.4	-	6	738	c.554C>A	c.(553-555)gCc>gAc	p.A185D	YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000471387.2_Missense_Mutation_p.A42D	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	185					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)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)		p.A185V(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CAGGAGCAGGGCCAGCACCTC	0.642																																					p.A185D													YIF1A,face,carcinoma,0,1	YIF1A	0	1	1	Substitution - Missense(1)	skin(1)	c.C554A												68	57	61					11																	66052939		2200	4295	6495	SO:0001583	missense	10897	exon6			AGCAGGGCCAGCA	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"Yip1 interacting factor homolog (S. cerevisiae)"	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.554C>A	11.37:g.66052939G>T	ENSP00000366098:p.Ala185Asp		44	0	0		54	0.09	5	NM_020470	132	0	0	A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	ENST00000376901.4	37	CCDS8132.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071939	0.76301	.	.	ENSG00000174851	ENST00000471387;ENST00000376901;ENST00000376904;ENST00000431556	T;T	0.48522	0.81;0.81	4.65	3.73	0.42828	.	0.214164	0.39834	N	0.001258	T	0.66848	0.2831	M	0.80982	2.52	0.39534	D	0.968711	D	0.64830	0.994	D	0.66196	0.942	T	0.72969	-0.4130	10	0.72032	D	0.01	-14.5265	12.3641	0.55219	0.0859:0.0:0.9141:0.0	.	185	O95070	YIF1A_HUMAN	D	42;185;189;197	ENSP00000366098:A185D;ENSP00000401953:A197D	ENSP00000366098:A185D	A	-	2	0	YIF1A	65809515	1.000000	0.71417	0.977000	0.42913	0.952000	0.60782	4.820000	0.62671	1.095000	0.41419	0.462000	0.41574	GCC			0.642	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219903.3		NM_020470		T	66052939	G	T	66052939	3	4	19	1	0	0	0	0	1	0	0	0	17499	1203	42	2	339	2	YIF1A	11	66052939	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	658002	66052939	68953577	35	1218											
SHANK2	22941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	70653201	70653201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctcccgggcacggcactGtagagcttccgcttgggccc	5	7	13	16	3	0	1	0	0	0	1	2	1	2	1	4	3	2	5	4	3	1	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr11:70653201G>A	ENST00000423696.2	-	3	468	c.432C>T	c.(430-432)taC>taT	p.Y144Y	SHANK2_ENST00000338508.4_Silent_p.Y524Y|SHANK2_ENST00000468619.1_5'UTR			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	144					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)			GCACGGCACTGTAGAGCTTCC	0.622																																					.													SHANK2_ENST00000338508,colon,carcinoma,-1,1	SHANK2_ENST00000338508	-1	1	0			.												58	73	69					11																	70653201		692	1591	2283	SO:0001819	synonymous_variant	22941	.			GGCACTGTAGAGC	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.432C>T	11.37:g.70653201G>A			88	0	0		77	0.09	7	.	4	0.25	1	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37																																																																																						0.622	SHANK2-203	KNOWN	basic	protein_coding	protein_coding				NM_012309		A	70653201	G	A	70653201	2	1	19	1	0	0	0	0	0	0	0	1	14288	1372	48	3		3	SHANK2	11	70653201	Silent	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	4600262	70653201	64353315	36	1219											
PRB2	653247	broad.mit.edu	37	chr12	11546214	11546214	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgcctccttgtgggggTggtccttgtggctttcctgg	0	17	15	9	0	0	0	0	0	0	0	3	0	3	0	4	5	1	2	4	5	0	5			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr12:11546214T>G	ENST00000389362.4	-	3	833	c.798A>C	c.(796-798)ccA>ccC	p.P266P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	266	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)			CTTGTGGGGGTGGTCCTTGTG	0.607																																					p.P266P													.	PRB2	168		0			c.A798C												54	80	72					12																	11546214		2067	4150	6217	SO:0001819	synonymous_variant	653247	exon3			TGGGGGTGGTCCT	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.798A>C	12.37:g.11546214T>G			240	0.0666666667	16		596	0.07	41	NM_006248	0		0	O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																					0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346925.2		NM_006248		G	11546214	T	G	11546214	2	3	19	1	0	0	0	0	0	0	0	1	12463	1683	59	4		4	PRB2	12	11546214	Silent	SNP	T	TCGA-2G-AAG3-01A-11D-A42Y-10		11546214	122305681	37	1220											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	14	8	11	1	2	2	1	1	1	1	4	3	3	2	2	0	3	3	2	0	3	4	rs121913240		TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	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)																											p.Q61R	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,+1,429	KRAS_ENST00000256078	1	429	141	Substitution - Missense(141)	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)	c.A182G												109	97	101					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	exon3	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	TCCTCTTGACCTG	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		87	0	0		193	0.07	14	NM_004985	125	0.02	3	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	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		C	25380276	T	C	25380276	3	2	19	1	0	0	0	0	1	0	0	0	8453	1812	63	4	520	4	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-2G-AAG3-01A-11D-A42Y-10	13834062	25380276	108471619	38	1221											
RAPGEF3	10411	mdanderson.org	37	chr12	48141588	48141588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaagatctgctgcctcttGttgcagacgtaggtgctgcg	6	11	13	11	3	2	2	0	0	2	2	2	2	2	2	1	1	5	6	1	1	2	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr12:48141588G>T	ENST00000449771.2	-	14	1468	c.1380C>A	c.(1378-1380)aaC>aaA	p.N460K	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.N460K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.N418K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.N418K|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.N460K|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.N418K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.N418K			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	460	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCTGCCTCTTGTTGCAGACGT	0.627																																					p.N460K													.	.			0			c.C1380A												43	43	43					12																	48141588		2203	4300	6503	SO:0001583	missense	10411	exon14			CCTCTTGTTGCAG	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1380C>A	12.37:g.48141588G>T	ENSP00000395708:p.Asn460Lys		33	0	0		25	0.08	2	NM_001098531	13	0	0	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691833	0.68271	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.99	3.18	0.36537	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.414796	0.26680	N	0.023043	T	0.41834	0.1176	L	0.61218	1.895	0.44175	D	0.996986	P	0.36944	0.574	B	0.42462	0.388	T	0.15954	-1.0419	10	0.29301	T	0.29	.	8.2656	0.31813	0.2465:0.0:0.7535:0.0	.	460	O95398	RPGF3_HUMAN	K	418;460;107;418;418;418;460;472;418;460	ENSP00000384521:N418K;ENSP00000395708:N460K;ENSP00000448619:N418K;ENSP00000171000:N418K;ENSP00000373864:N460K;ENSP00000448480:N418K;ENSP00000378764:N460K	ENSP00000171000:N418K	N	-	3	2	RAPGEF3	46427855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.831000	0.27476	0.825000	0.34637	0.655000	0.94253	AAC			0.627	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257848.1		NM_006105		T	48141588	G	T	48141588	3	4	19	1	0	0	0	0	1	0	0	0	13068	1368	48	3	1451	3	RAPGEF3	12	48141588	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	22761312	48141588	85710307	39	1222											
EIF4B	1975	mdanderson.org	37	chr12	53416289	53416289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgtagacagggatgatcGttcttttggccgtgatagaa	10	13	12	6	2	2	4	0	2	2	2	3	5	2	5	1	2	0	2	1	2	3	5			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr12:53416289G>A	ENST00000262056.9	+	6	871	c.545G>A	c.(544-546)cGt>cAt	p.R182H	EIF4B_ENST00000416762.3_Missense_Mutation_p.R143H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.R182H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	182	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|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 translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGGATGATCGTTCTTTTGGC	0.413																																					p.R182H													EIF4B,NS,carcinoma,0,1	EIF4B	0	1	0			c.G545A												151	124	132					12																	53416289		1858	4096	5954	SO:0001583	missense	1975	exon6			ATGATCGTTCTTT	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.545G>A	12.37:g.53416289G>A	ENSP00000262056:p.Arg182His		77	0	0		79	0.05	4	NM_001417	576	0	0	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876023	0.51695	.	.	ENSG00000063046	ENST00000262056;ENST00000551002;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000552490	D;D;D;D;D	0.94092	-3.26;-3.26;-3.26;-3.35;-3.26	3.59	3.59	0.41128	.	0.275859	0.34133	N	0.004234	D	0.88127	0.6353	L	0.27053	0.805	0.58432	D	0.999999	P;P;P	0.44380	0.834;0.744;0.744	B;B;B	0.39876	0.312;0.165;0.165	D	0.89089	0.3481	10	0.46703	T	0.11	.	15.041	0.71791	0.0:0.0:1.0:0.0	.	143;182;182	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	H	182;136;182;182;143;182	ENSP00000262056:R182H;ENSP00000447192:R136H;ENSP00000388806:R182H;ENSP00000412530:R143H;ENSP00000450324:R182H	ENSP00000262056:R182H	R	+	2	0	EIF4B	51702556	1.000000	0.71417	0.986000	0.45419	0.826000	0.46750	6.053000	0.71089	2.288000	0.76882	0.650000	0.86243	CGT			0.413	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000404852.2		NM_001417		A	53416289	G	A	53416289	3	1	19	1	0	0	0	0	1	0	0	0	5034	1145	40	1	567	1	EIF4B	12	53416289	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	5274701	53416289	80435606	40	1223											
MMP19	4327	mdanderson.org	37	chr12	56232401	56232401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcctcacccagcatcatgGcatccagttcactactgcaa	10	8	8	15	0	3	0	3	0	0	0	4	0	4	0	3	2	3	4	3	2	2	2			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr12:56232401G>T	ENST00000322569.4	-	6	975	c.884C>A	c.(883-885)gCc>gAc	p.A295D	TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000548629.1_Missense_Mutation_p.A272D|MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000409200.3_Missense_Mutation_p.A213D	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	295					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CAGCATCATGGCATCCAGTTC	0.602																																					p.A295D													.	.			0			c.C884A												104	87	93					12																	56232401		2203	4300	6503	SO:0001583	missense	4327	exon6			ATCATGGCATCCA	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.884C>A	12.37:g.56232401G>T	ENSP00000313437:p.Ala295Asp		46	0	0		45	0.07	3	NM_002429	19	0	0	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034935	0.93575	.	.	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.58060	1.93;1.93;0.36	5.71	5.71	0.89125	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	D	0.85646	0.1279	10	0.72032	D	0.01	.	17.3591	0.87345	0.0:0.0:1.0:0.0	.	213;295	B4E030;Q99542	.;MMP19_HUMAN	D	295;272;213	ENSP00000313437:A295D;ENSP00000446979:A272D;ENSP00000386625:A213D	ENSP00000313437:A295D	A	-	2	0	MMP19	54518668	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.082000	0.89513	2.699000	0.92147	0.514000	0.50259	GCC			0.602	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408023.1		NM_002429		T	56232401	G	T	56232401	3	4	19	1	0	0	0	0	1	0	0	0	9673	1203	42	2	658	2	MMP19	12	56232401	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	2816112	56232401	77619494	41	1224											
AVIL	10677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	58204191	58204191	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcatcagggactgtaggCttgataatggagcgtcggcc	9	10	13	9	2	2	1	2	1	1	0	4	3	2	3	1	4	1	2	1	4	2	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr12:58204191C>G	ENST00000257861.3	-	6	1132	c.702G>C	c.(700-702)aaG>aaC	p.K234N	AVIL_ENST00000537081.1_Missense_Mutation_p.K227N	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	234	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGACTGTAGGCTTGATAATGG	0.507																																					p.K234N													.	.			0			c.G702C												123	109	113					12																	58204191		2203	4300	6503	SO:0001583	missense	10677	exon6			TGTAGGCTTGATA	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.702G>C	12.37:g.58204191C>G	ENSP00000257861:p.Lys234Asn		138	0	0		154	0.33	51	NM_006576	2	0.5	1	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992208	0.35131	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.15139	2.45;2.45	5.19	4.3	0.51218	.	0.501755	0.23103	N	0.051886	T	0.12987	0.0315	L	0.40543	1.245	0.27512	N	0.95166	B;B	0.10296	0.002;0.003	B;B	0.15870	0.009;0.014	T	0.14671	-1.0464	10	0.28530	T	0.3	-20.1934	6.9291	0.24432	0.0:0.7414:0.0:0.2586	.	227;234	O75366-2;O75366	.;AVIL_HUMAN	N	227;234	ENSP00000443207:K227N;ENSP00000257861:K234N	ENSP00000257861:K234N	K	-	3	2	AVIL	56490458	0.958000	0.32768	1.000000	0.80357	0.986000	0.74619	0.453000	0.21811	1.426000	0.47256	0.655000	0.94253	AAG			0.507	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000409276.1		NM_006576		G	58204191	C	G	58204191	3	3	19	1	0	0	0	0	1	0	0	0	1227	796	28	5	1813	5	AVIL	12	58204191	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	1971790	58204191	75647704	42	1225											
VPS33A	65082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	122734429	122734429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtacttactgttctgaatgCcataaatttcatcaatgagt	12	16	6	7	0	3	2	2	2	1	0	3	2	3	2	1	0	3	2	1	0	6	5			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr12:122734429C>T	ENST00000267199.4	-	6	876	c.764G>A	c.(763-765)gGc>gAc	p.G255D	VPS33A_ENST00000542310.1_5'Flank|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.G216D	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	255					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GTTCTGAATGCCATAAATTTC	0.363																																					p.G255D													.	.			0			c.G764A												135	131	132					12																	122734429		2203	4300	6503	SO:0001583	missense	65082	exon6			TGAATGCCATAAA	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.764G>A	12.37:g.122734429C>T	ENSP00000267199:p.Gly255Asp		75	0	0		80	0.35	28	NM_022916	49	0.08	4	Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201650	0.94997	.	.	ENSG00000139719	ENST00000267199;ENST00000536212	T;T	0.80480	1.4;-1.38	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92485	0.7614	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93375	0.6738	10	0.59425	D	0.04	-20.7771	19.5736	0.95432	0.0:1.0:0.0:0.0	.	255	Q96AX1	VP33A_HUMAN	D	255;60	ENSP00000267199:G255D;ENSP00000439255:G60D	ENSP00000446319:G216D	G	-	2	0	VPS33A	121300382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.774000	0.85478	2.636000	0.89361	0.655000	0.94253	GGC			0.363	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401607.2				T	122734429	C	T	122734429	3	4	19	1	0	0	0	0	1	0	0	0	17225	739	26	2	1058	2	VPS33A	12	122734429	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	64530238	122734429	11117466	43	1226											
RILPL1	353116	mdanderson.org	37	chr12	123968738	123968738	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacttacagtcgcttgatGcccgactccggctgggggga	7	9	13	12	3	1	1	1	1	0	0	3	3	2	2	2	4	2	2	2	4	1	2			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr12:123968738G>T	ENST00000376874.4	-	6	1291	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G	RILPL1_ENST00000544468.1_Silent_p.G25G|RILPL1_ENST00000340724.6_Silent_p.G232G	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	352					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GTCGCTTGATGCCCGACTCCG	0.607																																					p.G352G													.	.			0			c.C1056A												26	32	30					12																	123968738		2124	4236	6360	SO:0001819	synonymous_variant	353116	exon6			CTTGATGCCCGAC	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.1056C>A	12.37:g.123968738G>T			14	0	0		22	0.09	2	NM_178314	42	0	0	Q66K36|Q8N1M0	Silent	SNP	ENST00000376874.4	37	CCDS45006.1																																																																																					0.607	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400595.1		NM_178314		T	123968738	G	T	123968738	2	4	19	1	0	0	0	0	0	0	0	1	13384	1306	46	2		2	RILPL1	12	123968738	Silent	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	1234309	123968738	9883157	44	1227											
SCARB1	949	mdanderson.org	37	chr12	125263108	125263108	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcccagcggccaggcctgGctggctcacggtgtcctcag	5	6	15	15	2	2	0	2	0	0	0	3	0	3	0	4	6	1	2	4	6	0	0			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr12:125263108G>T	ENST00000415380.2	-	0	1801				SCARB1_ENST00000546215.1_3'UTR|SCARB1_ENST00000261693.6_3'UTR|SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000339570.5_Missense_Mutation_p.P476T			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCCAGGCCTGGCTGGCTCACG	0.706																																					p.P476T													.	.			0			c.C1426A												4	7	6					12																	125263108		1745	3787	5532	SO:0001624	3_prime_UTR_variant	949	exon12			GGCCTGGCTGGCT	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.*17C>A	12.37:g.125263108G>T			38	0	0		46	0.07	3	NM_001082959	53	0	0	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	G	7.944	0.743468	0.15642	.	.	ENSG00000073060	ENST00000339570	T	0.59772	0.24	4.51	3.6	0.41247	.	.	.	.	.	T	0.40145	0.1105	N	0.22421	0.69	0.22639	N	0.998904	B	0.32829	0.386	B	0.28139	0.086	T	0.24584	-1.0156	9	0.46703	T	0.11	.	8.95	0.35783	0.1094:0.0:0.8906:0.0	.	476	F8W8N0	.	T	476	ENSP00000343795:P476T	ENSP00000343795:P476T	P	-	1	0	SCARB1	123829061	0.127000	0.22367	0.174000	0.22961	0.057000	0.15508	1.202000	0.32271	2.043000	0.60533	0.555000	0.69702	CCA			0.706	SCARB1-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000400165.1		NM_005505		T	125263108	G	T	125263108	1	4	19	0	1	0	0	0	0	0	0	0	13904	1203	42	2		2	SCARB1	12	125263108	3'UTR	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	1294370	125263108	8588787	45	1228											
ADPRHL1	113622	mdanderson.org	37	chr13	114088091	114088091	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcatccggccgcactcCacgctgacctcgatgagggt	6	8	13	14	4	1	2	1	2	0	0	4	3	3	2	4	3	0	2	4	3	0	0			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr13:114088091C>A	ENST00000375418.3	-	3	557	c.471G>T	c.(469-471)gtG>gtT	p.V157V	ADPRHL1_ENST00000356501.4_Silent_p.V75V	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	157					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GGCCGCACTCCACGCTGACCT	0.657																																					p.V157V													ADPRHL1,caecum,carcinoma,-2,1	ADPRHL1	-2	1	0			c.G471T												32	26	28					13																	114088091		2195	4293	6488	SO:0001819	synonymous_variant	113622	exon3			GCACTCCACGCTG	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.471G>T	13.37:g.114088091C>A			58	0	0		40	0.08	3	NM_138430	3	0	0	Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	CCDS9535.1																																																																																					0.657	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045915.2		NM_138430		A	114088091	C	A	114088091	2	1	19	1	0	0	0	0	0	0	0	1	332	581	21	3		3	ADPRHL1	13	114088091	Silent	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10		114088091	1081787	46	1229											
BCL11B	64919	mdanderson.org	37	chr14	99641120	99641120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccttgatgcgcttggCggcgctgttgagcccggggc	3	9	15	14	4	0	2	0	2	0	0	1	2	1	2	3	4	2	3	3	4	0	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr14:99641120C>T	ENST00000357195.3	-	4	2062	c.2053G>A	c.(2053-2055)Gcc>Acc	p.A685T	BCL11B_ENST00000443726.2_Missense_Mutation_p.A491T|BCL11B_ENST00000345514.2_Missense_Mutation_p.A614T	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	685					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)	p.A685T(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ATGCGCTTGGCGGCGCTGTTG	0.741			T	TLX3	T-ALL																																p.A685T				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	BCL11B,NS,carcinoma,0,1	BCL11B	0	1	1	Substitution - Missense(1)	prostate(1)	c.G2053A												18	15	16					14																	99641120		2174	4246	6420	SO:0001583	missense	64919	exon4			GCTTGGCGGCGCT	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2053G>A	14.37:g.99641120C>T	ENSP00000349723:p.Ala685Thr		13	0	0		30	0.1	3	NM_138576	1	0	0	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	9.772	1.172876	0.21704	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.10573	2.87;2.87;2.86	3.73	2.62	0.31277	.	0.710160	0.12469	N	0.466216	T	0.04543	0.0124	N	0.11427	0.14	0.37649	D	0.922324	B;B	0.27823	0.003;0.19	B;B	0.19666	0.003;0.026	T	0.24012	-1.0172	10	0.06891	T	0.86	-10.4805	8.8637	0.35274	0.5384:0.4616:0.0:0.0	.	614;685	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	T	685;614;491	ENSP00000349723:A685T;ENSP00000280435:A614T;ENSP00000387419:A491T	ENSP00000280435:A614T	A	-	1	0	BCL11B	98710873	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.653000	0.54446	1.790000	0.52503	0.561000	0.74099	GCC			0.741	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000072332.2		NM_138576		T	99641120	C	T	99641120	3	4	19	1	0	0	0	0	1	0	0	0	1364	768	27	1	635	1	BCL11B	14	99641120	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10		99641120	7708420	47	1230											
PACS2	23241	mdanderson.org	37	chr14	105858990	105858990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgagctgatggggctgcagGtggactactggacggcagca	8	6	17	10	2	0	1	0	1	0	0	0	4	0	3	1	6	4	5	1	6	1	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr14:105858990G>T	ENST00000325438.8	+	22	2749	c.2245G>T	c.(2245-2247)Gtg>Ttg	p.V749L	PACS2_ENST00000430725.2_Missense_Mutation_p.V674L|PACS2_ENST00000447393.1_Missense_Mutation_p.V753L|PACS2_ENST00000551801.1_Intron|PACS2_ENST00000551743.1_Missense_Mutation_p.V263L|PACS2_ENST00000547217.1_Missense_Mutation_p.V719L|PACS2_ENST00000458164.2_Missense_Mutation_p.V764L			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	749					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGGGCTGCAGGTGGACTACTG	0.607																																					p.V764L													.	.			0			c.G2290T												69	60	63					14																	105858990		2192	4298	6490	SO:0001583	missense	23241	exon23			CTGCAGGTGGACT	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2245G>T	14.37:g.105858990G>T	ENSP00000321834:p.Val749Leu		31	0	0		53	0.06	3	NM_001100913	71	0	0	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198224	0.58126	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.0	4.0	0.46444	.	0.074853	0.53938	D	0.000053	T	0.50394	0.1613	L	0.42686	1.345	0.58432	D	0.999999	B;B;B;B	0.33448	0.412;0.039;0.166;0.02	B;B;B;B	0.43916	0.436;0.073;0.143;0.036	T	0.43734	-0.9373	10	0.23891	T	0.37	-36.264	11.1326	0.48356	0.0:0.1882:0.8118:0.0	.	753;764;749;750	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	L	674;749;764;753;719;263	ENSP00000393524:V674L;ENSP00000321834:V749L;ENSP00000399732:V764L;ENSP00000393559:V753L;ENSP00000449525:V719L;ENSP00000449254:V263L	ENSP00000321834:V749L	V	+	1	0	PACS2	104930035	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.345000	0.65987	1.945000	0.56424	0.462000	0.41574	GTG			0.607	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000409209.1		XM_377355		T	105858990	G	T	105858990	3	4	19	1	0	0	0	0	1	0	0	0	11390	1261	44	3	2343	3	PACS2	14	105858990	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	6217870	105858990	1490550	48	1231											
RAD51	5888	mdanderson.org	37	chr15	41021794	41021794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccaggcagatgcacttgGccaggtttctgcggatgctt	7	10	13	11	1	1	1	0	0	1	1	1	2	1	2	2	4	4	4	2	4	0	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr15:41021794G>T	ENST00000267868.3	+	8	1004	c.736G>T	c.(736-738)Gcc>Tcc	p.A246S	RAD51_ENST00000532743.1_Missense_Mutation_p.A247S|RAD51_ENST00000423169.2_Missense_Mutation_p.A246S|RAD51_ENST00000557850.1_Missense_Mutation_p.A149S|RAD51_ENST00000530766.1_3'UTR|RAD51_ENST00000382643.3_Missense_Mutation_p.A247S	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	246	Interaction with PALB2.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GATGCACTTGGCCAGGTTTCT	0.522								Homologous recombination																													p.A247S													.	.			0			c.G739T												108	91	97					15																	41021794		2203	4300	6503	SO:0001583	missense	5888	exon8			CACTTGGCCAGGT	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.736G>T	15.37:g.41021794G>T	ENSP00000267868:p.Ala246Ser		71	0	0		67	0.06	4	NM_001164269	186	0	0	B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	G	36	5.685802	0.96784	.	.	ENSG00000051180	ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.51	5.51	0.81932	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.105016	0.64402	D	0.000004	T	0.48333	0.1494	L	0.61036	1.89	0.80722	D	1	B;B;B	0.25169	0.119;0.095;0.047	B;B;B	0.32342	0.104;0.144;0.103	T	0.42649	-0.9439	10	0.44086	T	0.13	-9.0152	19.4364	0.94798	0.0:0.0:1.0:0.0	.	246;247;246	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	S	246;149;246;247;247	ENSP00000406602:A246S;ENSP00000267868:A246S;ENSP00000433924:A247S;ENSP00000372088:A247S	ENSP00000267868:A246S	A	+	1	0	RAD51	38809086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.772000	0.98984	2.593000	0.87608	0.460000	0.39030	GCC			0.522	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000252358.1		NM_002875, NM_133487		T	41021794	G	T	41021794	3	4	19	1	0	0	0	0	1	0	0	0	13008	1203	42	2	887	2	RAD51	15	41021794	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		41021794	61509598	49	1232											
RPAP1	26015	mdanderson.org	37	chr15	41817286	41817286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctgggggcaaggccaGttcttggggagcctcagcta	6	10	14	11	0	3	0	1	0	2	0	4	1	4	1	3	5	2	3	3	5	2	4			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr15:41817286G>T	ENST00000304330.4	-	15	2094	c.1978C>A	c.(1978-1980)Ctg>Atg	p.L660M	RPAP1_ENST00000561603.1_Missense_Mutation_p.L660M|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	660						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)		GGCAAGGCCAGTTCTTGGGGA	0.607																																					p.L660M													RPAP1,NS,carcinoma,+2,1	RPAP1	2	1	0			c.C1978A												48	46	47					15																	41817286		2203	4300	6503	SO:0001583	missense	26015	exon15			AGGCCAGTTCTTG	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.1978C>A	15.37:g.41817286G>T	ENSP00000306123:p.Leu660Met		56	0.0178571429	1		50	0.06	3	NM_015540	47	0	0	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419321	0.42918	.	.	ENSG00000103932	ENST00000304330	T	0.75367	-0.93	5.38	1.92	0.25849	.	0.075781	0.53938	N	0.000041	T	0.58278	0.2111	L	0.33485	1.01	0.39811	D	0.972707	B	0.31968	0.349	B	0.34093	0.175	T	0.49698	-0.8912	10	0.30078	T	0.28	-4.7015	5.6118	0.17410	0.1464:0.1095:0.6236:0.1206	.	660	Q9BWH6	RPAP1_HUMAN	M	660	ENSP00000306123:L660M	ENSP00000306123:L660M	L	-	1	2	RPAP1	39604578	0.999000	0.42202	0.980000	0.43619	0.991000	0.79684	2.653000	0.46691	0.615000	0.30124	0.455000	0.32223	CTG			0.607	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252694.2		NM_015540		T	41817286	G	T	41817286	3	4	19	1	0	0	0	0	1	0	0	0	13564	1020	36	3	2247	3	RPAP1	15	41817286	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	795492	41817286	60714106	50	1233											
CSPG4	1464	mdanderson.org	37	chr15	75979730	75979730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagggcaatggtcacttgtaGggtggcatccgtgtgcactg	7	11	15	8	1	1	0	1	0	0	0	2	0	2	0	1	4	1	4	1	4	3	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr15:75979730G>T	ENST00000308508.5	-	3	3768	c.3676C>A	c.(3676-3678)Cta>Ata	p.L1226I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1226	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {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						GTCACTTGTAGGGTGGCATCC	0.612																																					p.L1226I													.	.			0			c.C3676A												57	57	57					15																	75979730		2196	4292	6488	SO:0001583	missense	1464	exon3			CTTGTAGGGTGGC	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.3676C>A	15.37:g.75979730G>T	ENSP00000312506:p.Leu1226Ile		59	0	0		52	0.06	3	NM_001897	44	0	0	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.546526	0.27652	.	.	ENSG00000173546	ENST00000308508	T	0.20069	2.1	5.07	5.07	0.68467	.	0.132195	0.34959	N	0.003543	T	0.16257	0.0391	L	0.29908	0.895	0.39097	D	0.961205	P	0.34864	0.473	B	0.24848	0.056	T	0.06320	-1.0833	10	0.46703	T	0.11	.	17.4549	0.87604	0.0:0.0:1.0:0.0	.	1226	Q6UVK1	CSPG4_HUMAN	I	1226	ENSP00000312506:L1226I	ENSP00000312506:L1226I	L	-	1	2	CSPG4	73766785	0.997000	0.39634	0.982000	0.44146	0.678000	0.39670	2.918000	0.48829	2.356000	0.79943	0.555000	0.69702	CTA			0.612	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286472.1		NM_001897		T	75979730	G	T	75979730	3	4	19	1	0	0	0	0	1	0	0	0	3962	991	35	3	3324	3	CSPG4	15	75979730	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	34162444	75979730	26551662	51	1234											
ACSM2B	348158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	20556521	20556521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataggcctgatgggtttgacCctgatgccaatgtctccttc	7	13	10	11	0	1	3	0	3	1	0	3	3	1	3	4	2	1	1	4	2	2	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr16:20556521C>A	ENST00000329697.6	-	10	1407	c.1239G>T	c.(1237-1239)agG>agT	p.R413S	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R413S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R334S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R413S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	413					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGTTTGACCCTGATGCCAA	0.522																																					p.R413S													.	.			0			c.G1239T												148	115	126					16																	20556521		2201	4297	6498	SO:0001583	missense	348158	exon11			TTTGACCCTGATG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1239G>T	16.37:g.20556521C>A	ENSP00000327453:p.Arg413Ser		94	0	0		63	0.32	20	NM_182617	0		0	Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	8.305	0.820862	0.16678	.	.	ENSG00000066813	ENST00000329697	T	0.48522	0.81	3.38	-3.88	0.04205	AMP-dependent synthetase/ligase (1);	0.114882	0.38326	N	0.001740	T	0.41328	0.1154	M	0.66506	2.035	0.09310	N	0.999996	P;P	0.34724	0.465;0.465	B;B	0.36567	0.228;0.228	T	0.40079	-0.9582	10	0.51188	T	0.08	-27.0483	10.6062	0.45396	0.0:0.3119:0.0:0.6881	.	413;413	A8K051;Q68CK6	.;ACS2B_HUMAN	S	413	ENSP00000327453:R413S	ENSP00000327453:R413S	R	-	3	2	ACSM2B	20464022	0.000000	0.05858	0.105000	0.21289	0.282000	0.26991	0.073000	0.14640	-0.890000	0.03945	-0.180000	0.13094	AGG			0.522	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254417.2		NM_182617		A	20556521	C	A	20556521	3	1	19	1	0	0	0	0	1	0	0	0	184	622	22	3	514	3	ACSM2B	16	20556521	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10		20556521	69798232	52	1235											
MYBBP1A	10514	mdanderson.org	37	chr17	4445103	4445103	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgacctttgctaggacctgGcccatcagctgcttccactc	6	11	9	15	0	1	1	1	1	0	0	3	2	2	2	4	2	3	3	4	2	1	3			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr17:4445103G>T	ENST00000254718.4	-	23	3477	c.3171C>A	c.(3169-3171)ggC>ggA	p.G1057G	MYBBP1A_ENST00000381556.2_Silent_p.G1057G			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1057					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						CTAGGACCTGGCCCATCAGCT	0.627																																					p.G1057G													MYBBP1A,bladder,carcinoma,-2,1	MYBBP1A	-2	1	0			c.C3171A												83	77	79					17																	4445103		2203	4300	6503	SO:0001819	synonymous_variant	10514	exon23			GACCTGGCCCATC	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.3171C>A	17.37:g.4445103G>T			53	0	0		52	0.06	3	NM_014520	109	0	0	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																					0.627	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000207488.2		NM_014520		T	4445103	G	T	4445103	2	4	19	1	0	0	0	0	0	0	0	1	10024	1190	42	2		2	MYBBP1A	17	4445103	Silent	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		4445103	76750107	53	1236											
PELP1	27043	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	4574813	4574813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcggccagcatggcagctGtgtcatcctgctccttttag	6	12	11	12	1	1	0	1	0	0	0	4	0	3	0	3	2	3	4	3	2	1	2			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr17:4574813G>T	ENST00000574876.1	-	17	3331	c.3314C>A	c.(3313-3315)aCa>aAa	p.T1105K	PELP1_ENST00000436683.2_Missense_Mutation_p.T881K|PELP1_ENST00000572293.1_Missense_Mutation_p.T1155K|PELP1_ENST00000269230.7_Missense_Mutation_p.T1015K|PELP1_ENST00000301396.4_Missense_Mutation_p.T1249K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1105					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CATGGCAGCTGTGTCATCCTG	0.512																																					p.T1105K													.	PELP1	102		0			c.C3314A												69	72	71					17																	4574813		2132	4252	6384	SO:0001583	missense	27043	exon17			GCAGCTGTGTCAT		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.3314C>A	17.37:g.4574813G>T	ENSP00000461625:p.Thr1105Lys		46	0	0		44	0.09	4	NM_014389	176	0	0	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512170	0.44660	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.55052	0.56;0.54;0.61	4.74	3.77	0.43336	.	0.208894	0.41001	D	0.000980	T	0.56790	0.2009	L	0.27053	0.805	0.32014	N	0.601682	B;D	0.71674	0.015;0.998	B;D	0.76071	0.004;0.987	T	0.63310	-0.6666	10	0.48119	T	0.1	-8.8691	10.8036	0.46504	0.0928:0.0:0.9072:0.0	.	881;1105	E7EV54;Q8IZL8	.;PELP1_HUMAN	K	1249;1015;881	ENSP00000301396:T1249K;ENSP00000269230:T1015K;ENSP00000416231:T881K	ENSP00000269230:T1015K	T	-	2	0	AC091153.1	4521562	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.255000	0.58804	1.207000	0.43291	0.561000	0.74099	ACA			0.512	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000439140.2		NM_014389		T	4574813	G	T	4574813	3	4	19	1	0	0	0	0	1	0	0	0	11742	1377	48	3	82	3	PELP1	17	4574813	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	129710	4574813	76620397	54	1237											
DNAH9	1770	mdanderson.org	37	chr17	11833287	11833287	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcatgagtgcagagccAgcaccctcccctgagggcca	8	7	11	15	0	2	3	1	2	1	1	3	3	3	3	5	1	3	2	5	1	0	1	rs2286303	byFrequency	TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr17:11833287A>T	ENST00000262442.4	+	63	12050	c.11982A>T	c.(11980-11982)ccA>ccT	p.P3994P	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000608377.1_Silent_p.P306P|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3994	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)		GTGCAGAGCCAGCACCCTCCC	0.592																																					p.P3994P													.	.			0			c.A11982T												84	63	70					17																	11833287		2203	4300	6503	SO:0001819	synonymous_variant	1770	exon63			AGAGCCAGCACCC	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.11982A>T	17.37:g.11833287A>T			120	0	0		104	0.04	4	NM_001372	3	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																					0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252756.2		NM_001372		T	11833287	A	T	11833287	2	4	19	1	0	0	0	0	0	0	0	1	4613	175	7	5		5	DNAH9	17	11833287	Silent	SNP	A	TCGA-2G-AAG3-01A-11D-A42Y-10	7258474	11833287	69361923	55	1238											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		200	0.05	10		153	0.07	11	NM_145301	24	0.75	18	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	19	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	3623800	15457087	65738123	56	1239											
KIAA0100	9703	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	26964994	26964994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacccatcagggataagataCgagacagacattgggcacag	15	5	12	9	1	1	3	1	0	0	3	1	6	1	4	1	2	1	1	1	2	2	3	rs200349785		TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr17:26964994C>T	ENST00000528896.2	-	14	1705	c.1631G>A	c.(1630-1632)cGt>cAt	p.R544H	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R401H|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R401H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	544						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGATAAGATACGAGACAGACA	0.493																																					p.R544H													.	KIAA0100	175		0			c.G1631A												89	78	82					17																	26964994		2203	4300	6503	SO:0001583	missense	9703	exon14			AAGATACGAGACA	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1631G>A	17.37:g.26964994C>T	ENSP00000436773:p.Arg544His		50	0	0		41	0.1	4	NM_014680	83	0	0	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810128	0.90707	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.24908	1.83;1.83	5.95	5.95	0.96441	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.09335	-1.0679	10	0.44086	T	0.13	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	544	Q14667	K0100_HUMAN	H	544;544;544;401	ENSP00000436773:R544H;ENSP00000446443:R401H	ENSP00000005905:R544H	R	-	2	0	KIAA0100	23989121	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.863000	0.75489	2.826000	0.97356	0.563000	0.77884	CGT			0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390571.3		NM_014680		T	26964994	C	T	26964994	3	4	19	1	0	0	0	0	1	0	0	0	8169	536	19	1	5180	1	KIAA0100	17	26964994	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10	11507907	26964994	54230216	57	1240											
ANKFN1	162282	mdanderson.org	37	chr17	54450048	54450048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgcacctcaacacactgGtccaggaagcccaggagagg	13	4	11	13	0	1	1	1	0	0	1	2	3	2	2	3	4	3	1	3	4	3	0			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr17:54450048G>T	ENST00000318698.2	+	6	687	c.652G>T	c.(652-654)Gtc>Ttc	p.V218F	ANKFN1_ENST00000566473.2_Missense_Mutation_p.V218F	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	218										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAACACACTGGTCCAGGAAGC	0.493																																					p.V218F													.	.			0			c.G652T												133	129	130					17																	54450048		2203	4300	6503	SO:0001583	missense	162282	exon6			ACACTGGTCCAGG	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.652G>T	17.37:g.54450048G>T	ENSP00000321627:p.Val218Phe		38	0	0		41	0.07	3	NM_153228	0		0		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086711	0.94100	.	.	ENSG00000153930	ENST00000318698	T	0.26810	1.71	5.64	5.64	0.86602	.	0.170706	0.50627	D	0.000106	T	0.47135	0.1429	M	0.70595	2.14	0.58432	D	0.999996	D	0.57899	0.981	P	0.55161	0.77	T	0.45745	-0.9240	10	0.72032	D	0.01	-6.8262	19.7137	0.96107	0.0:0.0:1.0:0.0	.	218	Q8N957	ANKF1_HUMAN	F	218	ENSP00000321627:V218F	ENSP00000321627:V218F	V	+	1	0	ANKFN1	51805047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.912000	0.87465	2.655000	0.90218	0.462000	0.41574	GTC			0.493	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338043.1		NM_153228		T	54450048	G	T	54450048	3	4	19	1	0	0	0	0	1	0	0	0	625	1261	44	3	674	3	ANKFN1	17	54450048	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	27485054	54450048	26745162	58	1241											
ERN1	2081	mdanderson.org	37	chr17	62133223	62133223	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgggtggaagggcagcTgctgctgctgctgctgcagg	5	8	19	9	0	0	0	0	0	0	0	0	1	0	1	0	5	7	8	0	5	1	0			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr17:62133223T>A	ENST00000433197.3	-	13	1579	c.1484A>T	c.(1483-1485)cAg>cTg	p.Q495L		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GAAGGGCAgctgctgctgctg	0.632																																					p.Q495L													.	.			0			c.A1484T												5	6	6					17																	62133223		2017	4062	6079	SO:0001583	missense	2081	exon13			GGCAGCTGCTGCT	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1484A>T	17.37:g.62133223T>A	ENSP00000401445:p.Gln495Leu		35	0.0285714286	1		44	0.09	4	NM_001433	11	0	0		Missense_Mutation	SNP	ENST00000433197.3	37	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	T	3.711	-0.059492	0.07317	.	.	ENSG00000178607	ENST00000433197	T	0.16457	2.34	0.14	0.14	0.14804	.	.	.	.	.	T	0.13157	0.0319	L	0.48642	1.525	0.24475	N	0.994376	B	0.22003	0.063	B	0.15052	0.012	T	0.27905	-1.0060	8	0.33141	T	0.24	-15.5741	.	.	.	.	495	O75460	ERN1_HUMAN	L	495	ENSP00000401445:Q495L	ENSP00000401445:Q495L	Q	-	2	0	ERN1	59486955	0.994000	0.37717	0.998000	0.56505	0.867000	0.49689	-0.604000	0.05667	0.157000	0.19338	0.155000	0.16302	CAG			0.632	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443734.2		NM_001433		A	62133223	T	A	62133223	3	1	19	1	0	0	0	0	1	0	0	0	5244	1580	55	5	1489	5	ERN1	17	62133223	Missense_Mutation	SNP	T	TCGA-2G-AAG3-01A-11D-A42Y-10	7683175	62133223	19061987	59	1242											
CEP76	79959	mdanderson.org	37	chr18	12702538	12702538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcggaggctttctccggagGcagcgacatgctggcagccg	6	7	15	13	4	1	0	0	0	1	0	3	3	1	2	2	5	3	4	2	5	0	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr18:12702538G>T	ENST00000262127.2	-	1	235	c.10C>A	c.(10-12)Cct>Act	p.P4T	PSMG2_ENST00000590217.1_5'Flank|CEP76_ENST00000586887.1_5'UTR|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.P4T|PSMG2_ENST00000317615.6_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	4					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCTCCGGAGGCAGCGACATG	0.692																																					p.P4T													.	.			0			c.C10A												26	24	25					18																	12702538		2202	4300	6502	SO:0001583	missense	79959	exon1			CCGGAGGCAGCGA	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.10C>A	18.37:g.12702538G>T	ENSP00000262127:p.Pro4Thr		43	0	0		41	0.07	3	NM_001271989	17	0	0	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	g	19.39	3.818856	0.71028	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;D	0.84298	-1.41;-1.83	4.6	4.6	0.57074	.	0.056326	0.64402	D	0.000001	D	0.88757	0.6523	M	0.62723	1.935	0.80722	D	1	D;P;P	0.63046	0.992;0.72;0.72	P;B;B	0.57620	0.824;0.26;0.26	D	0.89149	0.3522	10	0.52906	T	0.07	-25.8824	14.1942	0.65659	0.0:0.1503:0.8497:0.0	.	4;4;4	B4DP81;Q8TAP6-2;Q8TAP6	.;.;CEP76_HUMAN	T	4	ENSP00000262127:P4T;ENSP00000403074:P4T	ENSP00000262127:P4T	P	-	1	0	CEP76	12692538	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.412000	0.73303	2.394000	0.81467	0.450000	0.29827	CCT			0.692	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254611.1		NM_024899		T	12702538	G	T	12702538	3	4	19	1	0	0	0	0	1	0	0	0	3263	1203	42	2	2017	2	CEP76	18	12702538	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		12702538	65374710	60	1243											
ILF3	3609	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	10798137	10798137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaactacaactcaccGgtgcccccaaaacacgctgg	12	5	9	15	2	1	1	1	1	0	0	1	1	1	1	3	3	5	1	3	3	5	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr19:10798137G>A	ENST00000590261.1	+	17	2175	c.2175G>A	c.(2173-2175)ccG>ccA	p.P725P	ILF3_ENST00000449870.1_Silent_p.P729P|ILF3_ENST00000318511.3_Silent_p.P725P|ILF3_ENST00000588657.1_Silent_p.P729P			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	725	Interaction with PRMT1.				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)			ACAACTCACCGGTGCCCCCAA	0.662																																					p.P729P													.	.			0			c.G2187A												31	31	31					19																	10798137		2202	4299	6501	SO:0001819	synonymous_variant	3609	exon18			CTCACCGGTGCCC	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.2175G>A	19.37:g.10798137G>A			117	0	0		114	0.12	14	NM_017620	315	0.21	67	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	CCDS12246.1																																																																																					0.662	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452074.1				A	10798137	G	A	10798137	2	1	19	1	0	0	0	0	0	0	0	1	7727	1103	39	1		1	ILF3	19	10798137	Silent	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		10798137	48330846	61	1244											
RGL3	57139	mdanderson.org	37	chr19	11512712	11512712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggtgagctggttctGggcatgcagggcagccagga	6	8	16	11	1	1	1	0	1	1	0	3	2	2	2	2	5	3	5	2	5	0	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr19:11512712G>T	ENST00000380456.3	-	13	1522	c.1459C>A	c.(1459-1461)Cag>Aag	p.Q487K	RGL3_ENST00000393423.3_Missense_Mutation_p.Q487K	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	487	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGCTGGTTCTGGGCATGCAGG	0.657																																					p.Q487K	GBM(174;751 2067 17998 27979 33959)												.	.			0			c.C1459A												39	44	42					19																	11512712		2202	4300	6502	SO:0001583	missense	57139	exon13			GGTTCTGGGCATG	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1459C>A	19.37:g.11512712G>T	ENSP00000369823:p.Gln487Lys		52	0	0		45	0.07	3	NM_001035223	8	0	0	B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295824	0.60086	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.29917	1.55;1.55	4.6	4.6	0.57074	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.378995	0.30126	N	0.010357	T	0.32436	0.0829	L	0.49778	1.585	0.46078	D	0.998856	P;P;P;P	0.49447	0.787;0.924;0.787;0.836	B;B;B;B	0.42188	0.379;0.344;0.379;0.325	T	0.24693	-1.0153	10	0.59425	D	0.04	.	16.2327	0.82356	0.0:0.0:1.0:0.0	.	487;487;487;284	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	K	284;487;487	ENSP00000377075:Q487K;ENSP00000369823:Q487K	ENSP00000344665:Q284K	Q	-	1	0	RGL3	11373712	1.000000	0.71417	0.989000	0.46669	0.354000	0.29330	6.815000	0.75242	2.119000	0.64992	0.557000	0.71058	CAG			0.657	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421208.3		XM_290867		T	11512712	G	T	11512712	3	4	19	1	0	0	0	0	1	0	0	0	13301	1357	47	3	719	3	RGL3	19	11512712	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	714575	11512712	47616271	62	1245											
FAM98C	147965	mdanderson.org	37	chr19	38893809	38893809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcatggaggcggtgaagGcggaagcgtgggagggggcc	7	6	21	7	3	1	1	1	1	0	0	1	4	1	4	1	8	1	0	1	8	2	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr19:38893809G>T	ENST00000252530.5	+	1	35	c.16G>T	c.(16-18)Gcg>Tcg	p.A6S	FAM98C_ENST00000588262.1_Missense_Mutation_p.A6S|FAM98C_ENST00000343358.7_Missense_Mutation_p.A6S	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	6										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCGGTGAAGGCGGAAGCGTG	0.726																																					p.A6S													.	.			0			c.G16T												13	21	18					19																	38893809		1979	4128	6107	SO:0001583	missense	147965	exon1			GTGAAGGCGGAAG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.16G>T	19.37:g.38893809G>T	ENSP00000252530:p.Ala6Ser		9	0	0		12	0.25	3	NM_174905	7	0	0	A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.431624	0.62844	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.50813	0.77;0.73	3.87	2.73	0.32206	.	.	.	.	.	T	0.26810	0.0656	N	0.19112	0.55	0.09310	N	1	B;B;B	0.33528	0.416;0.035;0.02	B;B;B	0.23018	0.043;0.031;0.014	T	0.04400	-1.0954	9	0.18710	T	0.47	-18.1445	10.5592	0.45135	0.0:0.0:0.8069:0.1931	.	6;6;6	B7ZLI5;Q17RN3-2;Q17RN3	.;.;FA98C_HUMAN	S	6	ENSP00000252530:A6S;ENSP00000340348:A6S	ENSP00000252530:A6S	A	+	1	0	FAM98C	43585649	0.999000	0.42202	0.252000	0.24328	0.439000	0.31926	3.651000	0.54431	2.186000	0.69663	0.437000	0.28790	GCG			0.726	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000459222.1		NM_174905		T	38893809	G	T	38893809	3	4	19	1	0	0	0	0	1	0	0	0	5671	1203	42	2	18	2	FAM98C	19	38893809	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	27381097	38893809	20235174	63	1246											
IL4I1	259307	mdanderson.org	37	chr19	50393222	50393222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcggccataagggaccGtccagtcatccttttcggtt	8	11	11	11	3	1	1	1	0	0	1	4	2	3	2	4	3	1	1	4	3	1	4			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr19:50393222G>A	ENST00000391826.2	-	8	1551	c.1409C>T	c.(1408-1410)aCg>aTg	p.T470M	IL4I1_ENST00000341114.3_Missense_Mutation_p.T492M|IL4I1_ENST00000595948.1_Missense_Mutation_p.T492M|MIR4750_ENST00000584564.1_RNA	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	470						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	ATAAGGGACCGTCCAGTCATC	0.672											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T492M													.	.			0			c.C1475T												30	13	19					19																	50393222		2184	4285	6469	SO:0001583	missense	259307	exon10			GGGACCGTCCAGT	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1409C>T	19.37:g.50393222G>A	ENSP00000375702:p.Thr470Met		50	0	0	969	51	0.06	3	NM_172374	76	0	0	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515532	0.44763	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	D;D	0.92397	-3.03;-3.03	5.22	1.93	0.25924	Amine oxidase (1);	2.131890	0.01530	N	0.018758	D	0.91586	0.7342	L	0.47190	1.495	0.09310	N	1	D;D;D	0.60575	0.986;0.988;0.988	P;P;P	0.49561	0.481;0.615;0.615	T	0.78770	-0.2074	10	0.48119	T	0.1	-14.614	7.0089	0.24851	0.1735:0.1485:0.678:0.0	.	492;492;470	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	M	492;470	ENSP00000342557:T492M;ENSP00000375702:T470M	ENSP00000342557:T492M	T	-	2	0	IL4I1	55085034	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.060000	0.14342	0.219000	0.20840	-1.268000	0.01426	ACG			0.672	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466413.1				A	50393222	G	A	50393222	3	1	19	1	0	0	0	0	1	0	0	0	7712	1145	40	1	298	1	IL4I1	19	50393222	Missense_Mutation	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10	11499413	50393222	8735761	64	1247											
INSM1	3642	broad.mit.edu	37	chr20	20350192	20350192	+	Frame_Shift_Del	DEL	G	G	-																															gaggcggccggcgacggcgaGggggccggcgtgctgggcct																										TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr20:20350192delG	ENST00000310227.1	+	1	1428	c.1281delG	c.(1279-1281)gagfs	p.E427fs		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	427					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GCGACGGCGAGGGGGCCGGCG	0.756																																					p.E427fs													.	INSM1	17		0			c.1281delG												4	7	6					20																	20350192		1919	3877	5796	SO:0001589	frameshift_variant	3642	exon1			CGGCGAGGGGGCC		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1281delG	20.37:g.20350192delG	ENSP00000312631:p.Glu427fs		6	0	0		6	0.33	2	NM_002196	0		0		Frame_Shift_Del	DEL	ENST00000310227.1	37	CCDS13143.1																																																																																					0.756	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078223.1		NM_002196		-	20350192	G	-	20350192	7	5	19	1	0	1	0	1	0	0	0	0	7786	991	35	0	1283	0	INSM1	20	20350192	Frame_Shift_Del	DEL	G	TCGA-2G-AAG3-01A-11D-A42Y-10		20350192	42675328	65	1248											
CARD10	29775	mdanderson.org	37	chr22	37912202	37912202	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctcgagcacccggccccgGgcctgcagttgctgctcccg	3	7	12	19	4	0	0	0	0	0	0	3	1	2	0	6	2	4	5	6	2	0	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chr22:37912202G>T	ENST00000403299.1	-	4	693	c.477C>A	c.(475-477)gcC>gcA	p.A159A	CARD10_ENST00000494166.1_5'Flank|CARD10_ENST00000251973.5_Silent_p.A159A			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	159					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)					CCCGGCCCCGGGCCTGCAGTT	0.701																																					p.A159A													.	.			0			c.C477A																																									SO:0001819	synonymous_variant	29775	exon3			GCCCCGGGCCTGC	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.477C>A	22.37:g.37912202G>T			41	0	0		42	0.07	3	NM_014550	31	0	0	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																					0.701	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318997.1		NM_014550		T	37912202	G	T	37912202	2	4	19	1	0	0	0	0	0	0	0	1	2646	1219	43	3		3	CARD10	22	37912202	Silent	SNP	G	TCGA-2G-AAG3-01A-11D-A42Y-10		37912202	13392364	66	1249											
ARMCX5	64860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101857554	101857554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccagcattgggatgaaatCcagtgatgaggatgaagaaa	16	7	13	5	0	0	5	0	4	0	1	1	8	1	7	2	2	1	1	2	2	3	1			TCGA-2G-AAG3-01A-11D-A42Y-10	TCGA-2G-AAG3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	edec0ae4-0d21-40ef-87fb-9bf99b9d20d3	aee66dc1-135a-44d7-8f3d-b4e02426e898	g.chrX:101857554C>A	ENST00000604957.1	+	1	3107	c.485C>A	c.(484-486)tCc>tAc	p.S162Y	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S162Y|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.S162Y|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S162Y|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S162Y|ARMCX5_ENST00000372742.1_Missense_Mutation_p.S162Y	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	162										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGGATGAAATCCAGTGATGAG	0.473																																					p.S162Y													.	.			0			c.C485A												153	144	147					X																	101857554		2203	4300	6503	SO:0001583	missense	64860	exon3			TGAAATCCAGTGA		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.485C>A	X.37:g.101857554C>A	ENSP00000474720:p.Ser162Tyr		84	0	0		153	0.52	80	NM_022838	45	0.44	20	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	C	8.561	0.877751	0.17395	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	3.59	-0.251	0.13003	.	1.077630	0.07296	N	0.873194	T	0.07773	0.0195	N	0.14661	0.345	0.09310	N	1	B	0.32283	0.362	B	0.22753	0.041	T	0.21042	-1.0257	10	0.02654	T	1	13.8044	4.0151	0.09641	0.0:0.381:0.1801:0.439	.	162	Q6P1M9	ARMX5_HUMAN	Y	162	ENSP00000246174:S162Y;ENSP00000439001:S162Y;ENSP00000446385:S162Y;ENSP00000445851:S162Y;ENSP00000361827:S162Y	ENSP00000246174:S162Y	S	+	2	0	ARMCX5	101744210	0.009000	0.17119	0.000000	0.03702	0.196000	0.23810	0.242000	0.18087	-0.180000	0.10637	-0.975000	0.02590	TCC			0.473	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000469659.1		NM_022838		A	101857554	C	A	101857554	3	1	19	1	0	0	0	0	1	0	0	0	962	855	30	3	487	3	ARMCX5	23	101857554	Missense_Mutation	SNP	C	TCGA-2G-AAG3-01A-11D-A42Y-10		101857554	53413006	67	1250											
MAD2L2	10459	mdanderson.org	37	chr1	11740450	11740450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttgcgtttctggaagatgCccacggggtagacctcgcgc	6	10	13	12	4	2	2	0	0	2	2	3	3	2	3	2	3	2	2	2	3	2	3			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr1:11740450C>T	ENST00000235310.3	-	5	1047	c.119G>A	c.(118-120)gGc>gAc	p.G40D	MAD2L2_ENST00000376667.3_Missense_Mutation_p.G40D|MAD2L2_ENST00000376669.5_Missense_Mutation_p.G40D|MAD2L2_ENST00000376692.4_Missense_Mutation_p.G40D|MAD2L2_ENST00000376672.1_Missense_Mutation_p.G40D			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	40	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with REV1 and REV3L and homodimerization.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	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;5.04e-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)		CTGGAAGATGCCCACGGGGTA	0.577								DNA polymerases (catalytic subunits)																													p.G40D													.	.			0			c.G119A												117	119	118					1																	11740450		2203	4300	6503	SO:0001583	missense	10459	exon3			AAGATGCCCACGG	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"DNA polymerases"	6764	protein-coding gene	gene with protein product	"mitotic arrest deficient homolog-like 2", "polymerase (DNA-directed), zeta 2, accessory subunit"	604094	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.119G>A	1.37:g.11740450C>T	ENSP00000235310:p.Gly40Asp		69	0	0		46	0.07	3	NM_006341	78	0	0	B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Missense_Mutation	SNP	ENST00000235310.3	37	CCDS134.1	.	.	.	.	.	.	.	.	.	.	C	36	5.614814	0.96649	.	.	ENSG00000116670	ENST00000376692;ENST00000235310;ENST00000376672;ENST00000376669;ENST00000376667;ENST00000376664;ENST00000445656;ENST00000456915;ENST00000376655	.	.	.	5.64	5.64	0.86602	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	N	0.17082	0.46	0.80722	D	1	B	0.31931	0.347	B	0.30316	0.114	T	0.29822	-0.9999	9	0.17369	T	0.5	-38.0005	18.2734	0.90076	0.0:1.0:0.0:0.0	.	40	Q9UI95	MD2L2_HUMAN	D	40;40;40;40;40;40;70;40;40	.	ENSP00000235310:G40D	G	-	2	0	MAD2L2	11663037	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.783000	0.75078	2.647000	0.89833	0.655000	0.94253	GGC			0.577	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006344.2		NM_006341		T	11740450	C	T	11740450	3	4	20	1	0	0	0	0	1	0	0	0	9166	739	26	2	544	2	MAD2L2	1	11740450	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10		11740450	237510171	1	1251											
FUCA1	2517	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	24194762	24194762	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccgccggccgcgacctcatCcccggagcccgcatcgctac	5	4	10	22	7	1	0	1	0	0	0	3	2	2	1	7	2	2	2	7	2	1	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr1:24194762C>G	ENST00000374479.3	-	1	22	c.15G>C	c.(13-15)ggG>ggC	p.G5G		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	5					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		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;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GCGACCTCATCCCCGGAGCCC	0.731																																					p.G5G													.	.			0			c.G15C												3	5	4					1																	24194762		1712	3580	5292	SO:0001819	synonymous_variant	2517	exon1			CCTCATCCCCGGA	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.15G>C	1.37:g.24194762C>G			33	0	0		42	0.19	8	NM_000147	14	0.14	2	B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Silent	SNP	ENST00000374479.3	37	CCDS244.2																																																																																					0.731	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008259.2		NM_000147		G	24194762	C	G	24194762	2	3	20	1	0	0	0	0	0	0	0	1	6107	842	30	5		5	FUCA1	1	24194762	Silent	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	12454312	24194762	225055859	2	1252											
AHDC1	27245	broad.mit.edu;mdanderson.org	37	chr1	27877165	27877165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtatgtggtcttgttccGccgccccagcgatacgggga	5	12	13	11	4	1	0	0	0	1	0	2	2	2	1	4	3	2	2	4	3	2	5			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr1:27877165G>A	ENST00000247087.5	-	5	2058	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	AHDC1_ENST00000374011.2_Missense_Mutation_p.R488W			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	488							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)		GTCTTGTTCCGCCGCCCCAGC	0.642																																					p.R488W													.	AHDC1	98		0			c.C1462T												32	32	32					1																	27877165		2203	4300	6503	SO:0001583	missense	27245	exon6			TGTTCCGCCGCCC	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.1462C>T	1.37:g.27877165G>A	ENSP00000247087:p.Arg488Trp		85	0	0		54	0.07	4	NM_001029882	40	0	0	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539842	0.45176	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.63580	-0.05;-0.05	5.54	4.61	0.57282	.	0.096816	0.38164	U	0.001791	T	0.65354	0.2683	N	0.19112	0.55	0.49130	D	0.999759	D	0.89917	1.0	D	0.91635	0.999	T	0.69727	-0.5067	10	0.87932	D	0	-13.0257	11.6574	0.51325	0.0:0.0:0.5476:0.4524	.	488	Q5TGY3	AHDC1_HUMAN	W	488	ENSP00000247087:R488W;ENSP00000363123:R488W	ENSP00000247087:R488W	R	-	1	2	AHDC1	27749752	1.000000	0.71417	0.998000	0.56505	0.598000	0.36846	3.421000	0.52742	1.514000	0.48869	0.655000	0.94253	CGG			0.642	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009523.3				A	27877165	G	A	27877165	3	1	20	1	0	0	0	0	1	0	0	0	412	1086	38	1	3353	1	AHDC1	1	27877165	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	3682403	27877165	221373456	3	1253											
CDC14A	8556	mdanderson.org	37	chr1	100856378	100856378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttttgataggtgcctatGcagtaagtaccttcttcatg	9	16	8	8	0	2	1	1	1	1	0	2	1	2	1	2	1	3	3	2	1	4	8			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr1:100856378G>T	ENST00000336454.3	+	4	662	c.307G>T	c.(307-309)Gca>Tca	p.A103S	CDC14A_ENST00000361544.6_Missense_Mutation_p.A103S|CDC14A_ENST00000542213.1_Missense_Mutation_p.A45S|CDC14A_ENST00000544534.1_Missense_Mutation_p.A103S|CDC14A_ENST00000370124.3_Missense_Mutation_p.A103S|CDC14A_ENST00000370125.2_Missense_Mutation_p.A103S	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	103	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGGTGCCTATGCAGTAAGTAC	0.373																																					p.A103S													.	.			0			c.G307T												101	99	100					1																	100856378		2203	4300	6503	SO:0001583	missense	8556	exon4			GCCTATGCAGTAA	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.307G>T	1.37:g.100856378G>T	ENSP00000336739:p.Ala103Ser		63	0	0		50	0.06	3	NM_033313	9	0	0	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855492	0.51376	.	.	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	L	0.41415	1.275	0.80722	D	1	P;P;B;P;P;B	0.40931	0.725;0.614;0.071;0.614;0.733;0.042	B;B;B;B;P;B	0.47573	0.236;0.347;0.105;0.298;0.55;0.049	T	0.09596	-1.0667	10	0.45353	T	0.12	-11.467	18.4311	0.90625	0.0:0.0:1.0:0.0	.	45;103;103;103;103;103	F5H7B3;A6MA65;Q9UNH5-3;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;.;CC14A_HUMAN;.;.	S	45;104;103;103;103;103;103	ENSP00000442640:A45S;ENSP00000388501:A104S;ENSP00000359143:A103S;ENSP00000354916:A103S;ENSP00000359142:A103S;ENSP00000336739:A103S;ENSP00000442543:A103S	ENSP00000336739:A103S	A	+	1	0	CDC14A	100628966	1.000000	0.71417	0.998000	0.56505	0.545000	0.35147	8.289000	0.89923	2.648000	0.89879	0.561000	0.74099	GCA			0.373	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000030220.1		NM_033312		T	100856378	G	T	100856378	3	4	20	1	0	0	0	0	1	0	0	0	3058	1319	46	2	321	2	CDC14A	1	100856378	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	72979213	100856378	148394243	4	1254											
VAV3	10451	mdanderson.org	37	chr1	108145093	108145093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaatcttgatgtgctttgCttcattattgtacctgtggg	8	18	9	6	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	4	7			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr1:108145093C>T	ENST00000370056.4	-	24	2420	c.2146G>A	c.(2146-2148)Gca>Aca	p.A716T	VAV3_ENST00000527011.1_Missense_Mutation_p.A716T|VAV3_ENST00000544443.1_Missense_Mutation_p.A120T|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Missense_Mutation_p.A156T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	716	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGTGCTTTGCTTCATTATTG	0.289																																					p.A716T													.	.			0			c.G2146A												71	69	70					1																	108145093		2199	4290	6489	SO:0001583	missense	10451	exon24			GCTTTGCTTCATT	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.2146G>A	1.37:g.108145093C>T	ENSP00000359073:p.Ala716Thr		47	0	0		40	0.08	3	NM_006113	32	0	0	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590817	0.66219	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.88	5.88	0.94601	SH2 motif (5);	0.051612	0.85682	D	0.000000	T	0.78935	0.4362	N	0.10629	0.01	0.80722	D	1	P;B;B;B	0.35575	0.51;0.007;0.008;0.337	B;B;B;B	0.40982	0.345;0.027;0.027;0.209	T	0.82878	-0.0239	10	0.72032	D	0.01	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	716;120;716;156	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	T	716;716;120;156	ENSP00000359073:A716T;ENSP00000432540:A716T;ENSP00000446404:A120T;ENSP00000394897:A156T	ENSP00000359073:A716T	A	-	1	0	VAV3	107946616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.789000	0.95967	0.591000	0.81541	GCA			0.289	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030242.2		NM_006113		T	108145093	C	T	108145093	3	4	20	1	0	0	0	0	1	0	0	0	17157	797	28	2	413	2	VAV3	1	108145093	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	7288715	108145093	141105528	5	1255											
ZNF697	90874	broad.mit.edu;mdanderson.org	37	chr1	120165430	120165430	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgttgcccgtgtggatgcgGcggtggcggatcaggtggga	4	10	20	7	4	1	0	1	0	0	0	1	3	1	3	1	7	2	1	1	7	0	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr1:120165430G>T	ENST00000421812.2	-	3	1655	c.1536C>A	c.(1534-1536)cgC>cgA	p.R512R		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TGTGGATGCGGCGGTGGCGGA	0.632																																					p.R512R													ZNF697_ENST00000421812,right_upper_lobe,carcinoma,-1,2	ZNF697	26	2	0			c.C1536A												16	21	19					1																	120165430		2186	4289	6475	SO:0001819	synonymous_variant	90874	exon3			GATGCGGCGGTGG	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1536C>A	1.37:g.120165430G>T			57	0	0		49	0.06	3	NM_001080470	17	0	0	Q96IT2	Silent	SNP	ENST00000421812.2	37	CCDS44202.1																																																																																					0.632	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036349.3		XM_371286		T	120165430	G	T	120165430	2	4	20	1	0	0	0	0	0	0	0	1	18123	1190	42	2		2	ZNF697	1	120165430	Silent	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	12020337	120165430	129085191	6	1256											
ADAMTSL4	54507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150526211	150526211	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagaaccaggcctgccccCctacggcatcaccccagagc	9	3	8	21	1	1	2	1	0	0	2	1	2	1	2	8	2	4	1	8	2	2	1	rs587616373		TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr1:150526211C>A	ENST00000369038.2	+	4	945	c.744C>A	c.(742-744)ccC>ccA	p.P248P	ADAMTSL4_ENST00000369039.5_Silent_p.P248P|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.P248P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Silent_p.P248P			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	248					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)			GGCCTGCCCCCCTACGGCATC	0.637													C|||	1	0.000199681	0	0	5008	,	,		14951	0		0	False		,,,				2504	0.001				p.P248P													.	.			0			c.C744A												54	57	56					1																	150526211		2203	4300	6503	SO:0001819	synonymous_variant	54507	exon6			TGCCCCCCTACGG	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.744C>A	1.37:g.150526211C>A			74	0	0		79	0.44	35	NM_019032	120	0.54	65	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	CCDS955.1																																																																																					0.637	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084395.4		NM_019032		A	150526211	C	A	150526211	2	1	20	1	0	0	0	0	0	0	0	1	277	610	22	3		3	ADAMTSL4	1	150526211	Silent	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	30360781	150526211	98724410	7	1257											
RYR2	6262	broad.mit.edu	37	chr1	237586494	237586494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaaaccttctactcatGgacaaagagaaagctgatgt	17	8	8	8	0	2	2	1	1	1	1	2	5	2	3	1	1	3	1	1	1	5	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr1:237586494G>T	ENST00000366574.2	+	12	1268	c.951G>T	c.(949-951)atG>atT	p.M317I	RYR2_ENST00000542537.1_Missense_Mutation_p.M301I|RYR2_ENST00000360064.6_Missense_Mutation_p.M315I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	317	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			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)			TTCTACTCATGGACAAAGAGA	0.428																																					p.M317I													RYR2,NS,other,+1,1	RYR2	1273	1	0			c.G951T												116	111	113					1																	237586494		1888	4102	5990	SO:0001583	missense	6262	exon12			ACTCATGGACAAA	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.951G>T	1.37:g.237586494G>T	ENSP00000355533:p.Met317Ile		410	0	0		340	0.01	5	NM_001035	0		0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995472	0.35226	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.86366	-2.11;-2.11;-2.11	5.52	5.52	0.82312	MIR motif (2);MIR (2);	0.159714	0.41938	D	0.000781	T	0.73845	0.3639	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.67945	-0.5539	10	0.39692	T	0.17	.	5.3365	0.15961	0.1505:0.0:0.6014:0.2481	.	317	Q92736	RYR2_HUMAN	I	317;315;301	ENSP00000355533:M317I;ENSP00000353174:M315I;ENSP00000443798:M301I	ENSP00000353174:M315I	M	+	3	0	RYR2	235653117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.402000	0.44521	2.598000	0.87819	0.655000	0.94253	ATG			0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095402.2		NM_001035		T	237586494	G	T	237586494	3	4	20	1	0	0	0	0	1	0	0	0	13792	1348	47	3	997	3	RYR2	1	237586494	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	87060283	237586494	11664127	8	1258											
NBAS	51594	broad.mit.edu	37	chr2	15378674	15378674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttctccagatgattcaaaGtatctgcataggtaacttta	13	15	6	7	0	3	2	1	1	2	1	4	2	3	2	1	1	2	3	1	1	5	7			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr2:15378674G>T	ENST00000281513.5	-	45	5886	c.5861C>A	c.(5860-5862)aCt>aAt	p.T1954N	NBAS_ENST00000441750.1_Missense_Mutation_p.T1834N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1954					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATGATTCAAAGTATCTGCATA	0.403																																					p.T1954N													.	NBAS	246		0			c.C5861A												119	120	120					2																	15378674		2203	4300	6503	SO:0001583	missense	51594	exon45			TTCAAAGTATCTG	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5861C>A	2.37:g.15378674G>T	ENSP00000281513:p.Thr1954Asn		190	0	0		148	0.03	4	NM_015909	120	0	0	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.122145|3.122145	0.56613|0.56613	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000417461	.|T;T;T	.|0.46451	.|2.92;3.1;0.87	5.97|5.97	3.19|3.19	0.36642|0.36642	.|.	.|0.760060	.|0.13372	.|N	.|0.392837	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|D;B	.|0.63880	.|0.993;0.357	.|P;B	.|0.55112	.|0.769;0.126	T|T	0.32188|0.32188	-0.9916|-0.9916	5|10	.|0.87932	.|D	.|0	.|.	11.329|11.329	0.49465|0.49465	0.198:0.0:0.802:0.0|0.198:0.0:0.802:0.0	.|.	.|1834;1954	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	I|N	1002|1834;1954;46	.|ENSP00000413201:T1834N;ENSP00000281513:T1954N;ENSP00000392421:T46N	.|ENSP00000281513:T1954N	L|T	-|-	1|2	0|0	NBAS|NBAS	15296125|15296125	0.252000|0.252000	0.23972|0.23972	0.001000|0.001000	0.08648|0.08648	0.819000|0.819000	0.46315|0.46315	3.139000|3.139000	0.50577|0.50577	0.857000|0.857000	0.35407|0.35407	0.655000|0.655000	0.94253|0.94253	CTT|ACT			0.403	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241638.1		NM_015909		T	15378674	G	T	15378674	3	4	20	1	0	0	0	0	1	0	0	0	10202	1029	36	3	1286	3	NBAS	2	15378674	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		15378674	227820699	9	1259											
AAK1	22848	ucsc.edu;bcgsc.ca	37	chr2	69746110	69746110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctgggcctgctgctgCtggtaaaacgtgcctgccgg	5	10	15	11	2	1	1	0	1	1	0	1	1	1	1	3	3	6	4	3	3	2	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr2:69746110C>G	ENST00000409085.4	-	12	1849	c.1473G>C	c.(1471-1473)caG>caC	p.Q491H	AAK1_ENST00000406297.3_Missense_Mutation_p.Q491H|AAK1_ENST00000409068.1_Missense_Mutation_p.Q491H|RN7SL604P_ENST00000492589.2_RNA|SNORA36C_ENST00000384289.1_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	491	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCTGCTGCTGCTGGTAAAACG	0.582																																					p.Q491H													.	AAK1	121		0			c.G1473C												25	28	27					2																	69746110		1856	3489	5345	SO:0001583	missense	22848	exon12			CTGCTGCTGGTAA	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1473G>C	2.37:g.69746110C>G	ENSP00000386456:p.Gln491His		61	0	0		38	0.11	4	NM_014911	8	0	0	Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490986	0.44249	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.33438	1.41;1.41;1.41	4.99	4.09	0.47781	.	3.201010	0.00397	N	0.000059	T	0.32971	0.0847	N	0.24115	0.695	0.34744	D	0.731065	P;P;P	0.37276	0.454;0.589;0.454	B;B;B	0.44224	0.259;0.444;0.121	T	0.35325	-0.9793	10	0.66056	D	0.02	2.8076	9.4153	0.38517	0.0:0.9016:0.0:0.0984	.	491;491;491	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	H	491	ENSP00000386342:Q491H;ENSP00000386456:Q491H;ENSP00000385181:Q491H	ENSP00000385181:Q491H	Q	-	3	2	AAK1	69599614	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.738000	0.55067	2.585000	0.87301	0.655000	0.94253	CAG			0.582	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251847.4		NM_014911		G	69746110	C	G	69746110	3	3	20	1	0	0	0	0	1	0	0	0	16	796	28	5	1456	5	AAK1	2	69746110	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	54367436	69746110	173453263	10	1260											
STRADB	55437	hgsc.bcm.edu;bcgsc.ca	37	chr2	202344880	202344880	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttcctgatgaaaaagaCtcatactgggaattctaggg	13	12	10	6	0	2	3	1	2	1	1	3	5	3	4	1	2	1	0	1	2	5	5	rs568127362	byFrequency	TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr2:202344880C>T	ENST00000194530.3	+	12	1604	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	413					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATGAAAAAGACTCATACTGGG	0.393													C|||	61	0.0121805	0.0144	0.0144	5008	,	,		17652	0.004		0.0169	False		,,,				2504	0.0112				p.D413D													.	.			0			c.C1239T												139	139	139					2																	202344880		2203	4300	6503	SO:0001819	synonymous_variant	55437	exon12			AAAAGACTCATAC	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1239C>T	2.37:g.202344880C>T			130	0	0		120	0.07	8	NM_018571	45	0	0	Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.510128	0.00984	.	.	ENSG00000082146	ENST00000415688	.	.	.	5.32	-3.37	0.04898	.	.	.	.	.	T	0.22044	0.0531	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31420	-0.9944	4	.	.	.	.	5.6468	0.17594	0.2111:0.3213:0.0:0.4677	.	.	.	.	F	84	.	.	L	+	1	0	STRADB	202053125	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-0.169000	0.09911	-0.631000	0.05560	-0.142000	0.14014	CTC			0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256297.1		NM_018571		T	202344880	C	T	202344880	2	4	20	1	0	0	0	0	0	0	0	1	15348	564	20	3		3	STRADB	2	202344880	Silent	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	132598770	202344880	40854493	11	1261											
NGEF	25791	mdanderson.org	37	chr2	233746912	233746912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccagcagccgggatgtGaacgaaacaaacttggtcct	12	8	10	11	2	0	1	0	1	0	0	1	3	1	2	3	2	6	1	3	2	4	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr2:233746912G>T	ENST00000264051.3	-	13	2099	c.1821C>A	c.(1819-1821)ttC>ttA	p.F607L	NGEF_ENST00000373552.4_Missense_Mutation_p.F515L|NGEF_ENST00000539537.1_Missense_Mutation_p.F330L	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	607					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)		GCCGGGATGTGAACGAAACAA	0.617																																					p.F607L													.	.			0			c.C1821A												129	91	104					2																	233746912		2203	4300	6503	SO:0001583	missense	25791	exon13			GGATGTGAACGAA	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.1821C>A	2.37:g.233746912G>T	ENSP00000264051:p.Phe607Leu		55	0	0		39	0.08	3	NM_019850	33	0	0	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101700	0.37048	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.27256	1.68;1.68;1.68	5.39	4.52	0.55395	Src homology-3 domain (1);	0.183825	0.48767	D	0.000164	T	0.10208	0.0250	N	0.11560	0.145	0.36311	D	0.857629	B;B	0.30406	0.004;0.278	B;B	0.18871	0.004;0.023	T	0.22103	-1.0226	10	0.23302	T	0.38	-37.0097	5.0556	0.14531	0.2142:0.1663:0.6195:0.0	.	515;607	E9PC42;Q8N5V2	.;NGEF_HUMAN	L	607;515;497;330	ENSP00000264051:F607L;ENSP00000362653:F515L;ENSP00000439035:F330L	ENSP00000264051:F607L	F	-	3	2	NGEF	233455156	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.630000	0.37081	1.279000	0.44446	0.563000	0.77884	TTC			0.617	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000257051.2		XM_044799		T	233746912	G	T	233746912	3	4	20	1	0	0	0	0	1	0	0	0	10411	1281	45	3	323	3	NGEF	2	233746912	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	31402032	233746912	9452461	12	1262											
ESPNL	339768	mdanderson.org	37	chr2	239039508	239039508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgactctggcatcagctGcgaggaggtgccatcagagg	9	6	15	11	2	3	1	2	0	1	1	3	4	3	2	1	4	4	2	1	4	0	0			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr2:239039508G>T	ENST00000343063.3	+	9	2416	c.2153G>T	c.(2152-2154)tGc>tTc	p.C718F	ESPNL_ENST00000409506.1_Missense_Mutation_p.C350F|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.C674F	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	718										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGCATCAGCTGCGAGGAGGTG	0.682																																					p.C718F													.	.			0			c.G2153T												4	5	5					2																	239039508		1980	4020	6000	SO:0001583	missense	339768	exon9			TCAGCTGCGAGGA	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2153G>T	2.37:g.239039508G>T	ENSP00000339115:p.Cys718Phe		21	0	0		23	0.09	2	NM_194312	2	0	0	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	6.480	0.456738	0.12283	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.63744	-0.06;1.03;0.64	4.24	4.24	0.50183	.	0.075983	0.52532	D	0.000062	T	0.73877	0.3643	M	0.61703	1.905	0.37223	D	0.905344	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.77167	-0.2687	10	0.42905	T	0.14	-14.3674	11.4684	0.50252	0.0:0.1829:0.8171:0.0	.	674;718	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	F	718;674;350	ENSP00000339115:C718F;ENSP00000386577:C674F;ENSP00000386579:C350F	ENSP00000339115:C718F	C	+	2	0	ESPNL	238704247	0.992000	0.36948	0.990000	0.47175	0.148000	0.21650	1.423000	0.34837	1.907000	0.55213	0.313000	0.20887	TGC			0.682	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257164.2		NM_194312		T	239039508	G	T	239039508	3	4	20	1	0	0	0	0	1	0	0	0	5262	1319	46	2	2187	2	ESPNL	2	239039508	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	5292596	239039508	4159865	13	1263											
CCR3	1232	hgsc.bcm.edu	37	chr3	46307688	46307688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtctctccatccacaGcagagccggaactctctatt	8	11	7	15	1	3	1	0	0	3	1	7	2	5	2	3	1	3	2	3	1	2	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr3:46307688G>A	ENST00000357422.2	+	4	1582	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T	CCR3_ENST00000545097.1_Missense_Mutation_p.A368T|CCR3_ENST00000395940.2_Missense_Mutation_p.A347T|CCR3_ENST00000541018.1_Missense_Mutation_p.A347T|CCR3_ENST00000395942.2_Missense_Mutation_p.A347T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	347					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TCCATCCACAGCAGAGCCGGA	0.483																																					p.A368T													CCR3,NS,carcinoma,-2,1	CCR3	-2	1	0			c.G1102A												51	48	49					3																	46307688		2203	4300	6503	SO:0001583	missense	1232	exon3			TCCACAGCAGAGC	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.1039G>A	3.37:g.46307688G>A	ENSP00000350003:p.Ala347Thr		68	0	0		64	0.05	3	NM_178328	1	0	0	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982448	0.34942	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.68181	-0.28;-0.31;-0.28;-0.28;-0.28	5.66	4.77	0.60923	.	2.483420	0.03575	U	0.229278	T	0.62901	0.2466	L	0.34521	1.04	0.22975	N	0.998484	P;P	0.44429	0.835;0.594	B;B	0.39840	0.311;0.164	T	0.57866	-0.7737	10	0.59425	D	0.04	.	13.3736	0.60726	0.0:0.0:0.8425:0.1575	.	368;347	F5GWL6;P51677	.;CCR3_HUMAN	T	347;368;347;347;347	ENSP00000350003:A347T;ENSP00000441600:A368T;ENSP00000440097:A347T;ENSP00000379271:A347T;ENSP00000379273:A347T	ENSP00000350003:A347T	A	+	1	0	CCR3	46282692	0.503000	0.26115	0.750000	0.31169	0.022000	0.10575	3.657000	0.54474	1.355000	0.45865	0.655000	0.94253	GCA			0.483	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257380.2				A	46307688	G	A	46307688	3	1	20	1	0	0	0	0	1	0	0	0	2944	971	34	2	1108	2	CCR3	3	46307688	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		46307688	151714742	14	1264											
VPRBP	9730	broad.mit.edu	37	chr3	51458228	51458228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagcaccttgatgccgttGttggactgaaccacattcca	10	10	10	11	1	0	2	0	2	0	0	1	4	1	4	4	2	3	3	4	2	1	4			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr3:51458228G>T	ENST00000335891.5	-	7	858	c.849C>A	c.(847-849)aaC>aaA	p.N283K				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	732	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGATGCCGTTGTTGGACTGAA	0.522																																					p.N679K													.	VPRBP	107		0			c.C2037A												255	245	248					3																	51458228		2029	4201	6230	SO:0001583	missense	9730	exon14			GCCGTTGTTGGAC	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.849C>A	3.37:g.51458228G>T	ENSP00000338857:p.Asn283Lys		150	0.0066666667	1		125	0.03	4	NM_014703	15	0	0	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	G	16.12	3.032803	0.54790	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.65549	-0.16;-0.16	5.97	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.81942	2.565	0.58432	D	0.999996	D	0.61080	0.989	D	0.72982	0.979	T	0.77180	-0.2682	10	0.72032	D	0.01	-18.414	8.5791	0.33617	0.2847:0.0:0.7153:0.0	.	732	Q9Y4B6	VPRBP_HUMAN	K	303;283	ENSP00000393183:N303K;ENSP00000338857:N283K	ENSP00000338857:N283K	N	-	3	2	VPRBP	51433268	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.147000	0.50639	0.860000	0.35481	0.655000	0.94253	AAC			0.522	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_014703		T	51458228	G	T	51458228	3	4	20	1	0	0	0	0	1	0	0	0	17209	1368	48	3	2371	3	VPRBP	3	51458228	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	5150540	51458228	146564202	15	1265											
USP13	8975	hgsc.bcm.edu;bcgsc.ca	37	chr3	179472611	179472611	+	Frame_Shift_Del	DEL	C	C	-																															gaagaacttccagacatcagCccccccatagtcattcctga																										TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr3:179472611delC	ENST00000263966.3	+	15	2361	c.1890delC	c.(1888-1890)agcfs	p.S630fs	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Frame_Shift_Del_p.S565fs	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	630	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAGACATCAGCCCCCCCATAG	0.483																																					p.S630fs													.	USP13	117		0			c.1889delG												131	124	127					3																	179472611		2203	4300	6503	SO:0001589	frameshift_variant	8975	exon15			CATCAGCCCCCCC	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1890delC	3.37:g.179472611delC	ENSP00000263966:p.Ser630fs		110	0	0		110	0.28	31	NM_003940	4	0	0	A8K2S3|B4DYF3|D3DNS2|Q96B25	Frame_Shift_Del	DEL	ENST00000263966.3	37	CCDS3235.1																																																																																					0.483	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349617.1				-	179472611	C	-	179472611	7	5	20	1	0	1	0	1	0	0	0	0	17068	738	26	0	1948	0	USP13	3	179472611	Frame_Shift_Del	DEL	C	TCGA-2G-AAG5-01A-11D-A42Y-10	128014383	179472611	18549819	16	1266											
ANTXR2	118429	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	80940116	80940116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctccattaaagctcactGaaacatcaagagttctgaaa	15	11	5	10	0	3	3	2	2	1	1	5	3	5	3	2	0	2	2	2	0	5	3			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr4:80940116G>A	ENST00000307333.7	-	11	883	c.881C>T	c.(880-882)tCa>tTa	p.S294L	ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000404191.1_Missense_Mutation_p.S217L|ANTXR2_ENST00000403729.2_Missense_Mutation_p.S294L	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	294					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						AAAGCTCACTGAAACATCAAG	0.289									Juvenile Hyaline Fibromatosis																												p.S294L													.	ANTXR2	97		0			c.C881T												53	44	46					4																	80940116		1777	4018	5795	SO:0001583	missense	118429	exon11	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	CTCACTGAAACAT	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.881C>T	4.37:g.80940116G>A	ENSP00000306185:p.Ser294Leu		272	0.0036764706	1		223	0.35	79	NM_001145794	136	0.49	66	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500964	0.26861	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000307333	D;D;D	0.85702	-2.02;-2.02;-2.02	5.81	5.81	0.92471	Anthrax toxin receptor, extracellular (1);	0.144833	0.52532	D	0.000079	T	0.70613	0.3244	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.004	T	0.63116	-0.6709	10	0.12103	T	0.63	-14.3382	6.8099	0.23799	0.111:0.1763:0.7128:0.0	.	294;294	P58335;P58335-4	ANTR2_HUMAN;.	L	294;217;294	ENSP00000385575:S294L;ENSP00000384028:S217L;ENSP00000306185:S294L	ENSP00000306185:S294L	S	-	2	0	ANTXR2	81159140	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.741000	0.55090	2.745000	0.94114	0.655000	0.94253	TCA			0.289	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324663.1		NM_058172		A	80940116	G	A	80940116	3	1	20	1	0	0	0	0	1	0	0	0	712	1294	45	3	655	3	ANTXR2	4	80940116	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		80940116	110214160	17	1267											
MATR3	9782	broad.mit.edu	37	chr5	138651822	138651822	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaggaattctgggaccTccacctccctcatttcatct	8	11	6	16	0	4	0	2	0	2	0	6	2	6	2	5	2	0	1	5	2	1	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr5:138651822T>C	ENST00000394805.3	+	5	1409	c.1074T>C	c.(1072-1074)ccT>ccC	p.P358P	MATR3_ENST00000503811.1_Silent_p.P70P|MATR3_ENST00000502499.1_Silent_p.P20P|MATR3_ENST00000502929.1_Silent_p.P358P|MATR3_ENST00000394800.2_Silent_p.P358P|MATR3_ENST00000510056.1_Silent_p.P358P|MATR3_ENST00000361059.2_Silent_p.P358P|MATR3_ENST00000509990.1_Silent_p.P358P|MATR3_ENST00000504203.1_Silent_p.P20P	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	358					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)			TTCTGGGACCTCCACCTCCCT	0.413																																					p.P358P													.	MATR3	85		0			c.T1074C												103	107	106					5																	138651822		2203	4300	6503	SO:0001819	synonymous_variant	9782	exon5			GGGACCTCCACCT	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.1074T>C	5.37:g.138651822T>C			191	0	0		132	0.02	3	NM_018834	453	0	1	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	T	8.179	0.793361	0.16327	.	.	ENSG00000015479	ENST00000515833	.	.	.	5.83	-3.34	0.04943	.	.	.	.	.	T	0.37758	0.1015	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32188	-0.9916	4	.	.	.	-9.6588	0.8767	0.01226	0.2177:0.1526:0.2406:0.389	.	.	.	.	P	118	.	.	L	+	2	0	MATR3	138679721	0.851000	0.29673	0.970000	0.41538	0.811000	0.45836	-0.317000	0.08060	-0.791000	0.04486	-3.429000	0.00037	CTC			0.413	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251324.2		NM_018834		C	138651822	T	C	138651822	2	2	20	1	0	0	0	0	0	0	0	1	9353	1538	54	4		4	MATR3	5	138651822	Silent	SNP	T	TCGA-2G-AAG5-01A-11D-A42Y-10		138651822	42263438	18	1268											
ANKHD1	54882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	139820640	139820640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaggagacataactcccCtgatggcagcttccagtgga	13	8	10	10	0	0	2	0	1	0	1	2	4	2	3	3	3	2	2	3	3	3	3			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr5:139820640C>G	ENST00000360839.2	+	5	980	c.826C>G	c.(826-828)Ctg>Gtg	p.L276V	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L276V|ANKHD1_ENST00000394722.3_Missense_Mutation_p.L265V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L276V|ANKHD1_ENST00000297183.6_Missense_Mutation_p.L276V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	276						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAACTCCCCTGATGGCAGC	0.373																																					p.L276V													.	.			0			c.C826G												133	126	129					5																	139820640		2203	4300	6503	SO:0001583	missense	54882	exon5			ACTCCCCTGATGG	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.826C>G	5.37:g.139820640C>G	ENSP00000354085:p.Leu276Val		106	0	0		64	0.11	7	NM_024668	16	0.13	2	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482685	0.63962	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	D;D;T;T;T;T;D	0.86865	-2.18;-2.18;-1.17;-1.17;-0.55;-1.17;-2.18	5.53	0.606	0.17559	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000006	D	0.92535	0.7629	M	0.85630	2.765	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.994;0.992;1.0;0.999	D	0.91055	0.4881	10	0.87932	D	0	.	10.4837	0.44708	0.0:0.5017:0.0:0.4983	.	276;276;276;265;276	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	V	276;290;276;276;276;276;262;265;276	ENSP00000354085:L276V;ENSP00000297183:L276V;ENSP00000394489:L276V;ENSP00000378212:L276V;ENSP00000421069:L262V;ENSP00000378211:L265V;ENSP00000432016:L276V	ENSP00000432016:L276V	L	+	1	2	ANKHD1-EIF4EBP3;ANKHD1	139800824	0.655000	0.27376	0.988000	0.46212	0.989000	0.77384	0.697000	0.25556	-0.108000	0.12066	-0.225000	0.12378	CTG			0.373	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000251672.1		NM_017747		G	139820640	C	G	139820640	3	3	20	1	0	0	0	0	1	0	0	0	628	680	24	5	844	5	ANKHD1	5	139820640	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	1168818	139820640	41094620	19	1269											
APBB3	10307	broad.mit.edu	37	chr5	139938282	139938282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctttgagcagggggAggggcaggggacctcctggg	5	6	18	12	0	0	1	0	1	0	0	2	3	2	3	5	7	1	2	5	7	0	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr5:139938282A>G	ENST00000357560.4	-	13	1792	c.1349T>C	c.(1348-1350)cTc>cCc	p.L450P	SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.L448P|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000508496.2_Missense_Mutation_p.L227P|APBB3_ENST00000354402.5_Missense_Mutation_p.L457P|APBB3_ENST00000356738.2_Missense_Mutation_p.L455P	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	450						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGGGGGAGGGGCAGGGG	0.667																																					p.L457P													.	APBB3	34		0			c.T1370C												32	39	36					5																	139938282		2202	4293	6495	SO:0001583	missense	10307	exon12			AGGGGGAGGGGCA	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1349T>C	5.37:g.139938282A>G	ENSP00000350171:p.Leu450Pro		266	0.007518797	2		236	0.03	7	NM_006051	14	0	0	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	A	8.048	0.765288	0.15914	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.46451	1.87;1.87;1.87;0.87;1.87	4.76	1.07	0.20283	.	0.634983	0.13994	N	0.348616	T	0.17662	0.0424	N	0.08118	0	0.51233	D	0.999918	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.09729	-1.0661	9	.	.	.	0.0113	4.2081	0.10498	0.6125:0.1906:0.1969:0.0	.	448;455	O95704-2;O95704-3	.;.	P	455;457;450;227;448	ENSP00000349177:L455P;ENSP00000346378:L457P;ENSP00000350171:L450P;ENSP00000444013:L227P;ENSP00000402591:L448P	.	L	-	2	0	APBB3	139918466	0.959000	0.32827	0.075000	0.20258	0.973000	0.67179	1.354000	0.34056	-0.046000	0.13446	0.374000	0.22700	CTC			0.667	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251677.2		NM_006051		G	139938282	A	G	139938282	3	3	20	1	0	0	0	0	1	0	0	0	762	304	11	4	115	4	APBB3	5	139938282	Missense_Mutation	SNP	A	TCGA-2G-AAG5-01A-11D-A42Y-10	117642	139938282	40976978	20	1270											
BTN3A1	11119	broad.mit.edu	37	chr6	26411341	26411341	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttttcattgtagggggAgagagacattcagcctataa	11	14	10	6	0	2	2	2	0	0	2	2	4	2	2	1	2	1	1	1	2	3	8			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr6:26411341A>G	ENST00000289361.6	+	8	1337	c.969A>G	c.(967-969)ggA>ggG	p.G323G	BTN3A1_ENST00000414912.2_Silent_p.G271G|BTN3A1_ENST00000425234.2_Silent_p.G323G|BTN3A1_ENST00000476549.2_Silent_p.G323G	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	323	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGTAGGGGGAGAGAGACATT	0.408																																					p.G323G													.	BTN3A1	80		0			c.A969G												170	169	169					6																	26411341		2203	4300	6503	SO:0001819	synonymous_variant	0	exon8			AGGGGGAGAGAGA	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.969A>G	6.37:g.26411341A>G			96	0.0104166667	1		96	0.03	3	NM_007048	12	0	0	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	CCDS4608.1																																																																																					0.408	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040112.3				G	26411341	A	G	26411341	2	3	20	1	0	0	0	0	0	0	0	1	1564	291	11	4		4	BTN3A1	6	26411341	Silent	SNP	A	TCGA-2G-AAG5-01A-11D-A42Y-10		26411341	144703726	21	1271											
CYP21A2	1589	broad.mit.edu	37	chr6	32008457	32008457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttcagcatctccggctaCgacatccctgagggcacagt	8	8	9	16	2	2	1	1	1	1	0	4	2	3	1	3	2	2	3	3	2	1	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr6:32008457C>T	ENST00000418967.2	+	9	1289	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	CYP21A2_ENST00000435122.2_Silent_p.Y347Y	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	376					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCTCCGGCTACGACATCCCTG	0.622																																					.	Melanoma(174;1669 1998 3915 34700 46447)												.	CYP21A2	42		0			.	GRCh37	CM031957	CYP21A2	M								9	11	10					6																	32008457		1389	2491	3880	SO:0001819	synonymous_variant	1589	.			CGGCTACGACATC	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1131C>T	6.37:g.32008457C>T			325	0	0		282	0.26	72	.	2	0.5	1	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	ENST00000418967.2	37	CCDS4735.1																																																																																					0.622	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268768.2		NM_000500		T	32008457	C	T	32008457	2	4	20	1	0	0	0	0	0	0	0	1	4155	547	19	1		1	CYP21A2	6	32008457	Silent	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	5597116	32008457	139106610	22	1272											
TNXB	7148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	32037571	32037571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcacggtggtcacctgCagctcctcccccagacgggg	5	7	14	15	2	2	1	2	0	0	1	4	1	4	1	4	5	2	2	4	5	0	0	rs376818111		TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr6:32037571C>T	ENST00000375244.3	-	15	5547	c.5346G>A	c.(5344-5346)ctG>ctA	p.L1782L	TNXB_ENST00000375247.2_Silent_p.L1782L			P22105	TENX_HUMAN	tenascin XB	1864	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						TGGTCACCTGCAGCTCCTCCC	0.597																																					p.L1782L													.	.			0			c.G5346A							C		0,3940		0,0,1970	25	28	27		5346	1.5	1	6		27	1,8289		0,1,4144	no	coding-synonymous	TNXB	NM_019105.6		0,1,6114	TT,TC,CC		0.0121,0.0,0.0082		1782/4243	32037571	1,12229	1970	4145	6115	SO:0001819	synonymous_variant	7148	exon15			CACCTGCAGCTCC	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.5346G>A	6.37:g.32037571C>T			110	0	0		74	0.32	24	NM_019105	51	0.33	17	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																						0.597	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000268927.2		NM_019105		T	32037571	C	T	32037571	2	4	20	1	0	0	0	0	0	0	0	1	16369	697	25	2		2	TNXB	6	32037571	Silent	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	29114	32037571	139077496	23	1273											
SYNGAP1	8831	mdanderson.org	37	chr6	33406612	33406612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtagaccctatcaagtGcacagcatccagtttggcag	11	8	11	11	1	1	1	1	0	0	1	2	2	2	1	2	2	2	5	2	2	3	3			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr6:33406612G>A	ENST00000418600.2	+	10	1693	c.1592G>A	c.(1591-1593)tGc>tAc	p.C531Y	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.C531Y|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.C472Y|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	531	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCTATCAAGTGCACAGCATCC	0.562																																					p.C531Y													.	.			0			c.G1592A												148	137	141					6																	33406612		2203	4300	6503	SO:0001583	missense	8831	exon10			TCAAGTGCACAGC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1592G>A	6.37:g.33406612G>A	ENSP00000403636:p.Cys531Tyr		79	0	0		50	0.06	3	NM_006772	33	0	0	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645247	0.47258	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.79141	-1.24;-1.24;-1.24	4.84	4.84	0.62591	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.591792	0.13334	U	0.395738	D	0.84456	0.5476	M	0.76328	2.33	0.40065	D	0.975949	D;D;D;D	0.63046	0.992;0.99;0.99;0.984	P;B;B;D	0.63283	0.48;0.348;0.348;0.913	D	0.85326	0.1087	10	0.87932	D	0	.	15.5505	0.76148	0.0:0.0:1.0:0.0	.	531;531;531;531	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	Y	531;531;531;472	ENSP00000293748:C531Y;ENSP00000403636:C531Y;ENSP00000412475:C472Y	ENSP00000293748:C531Y	C	+	2	0	SYNGAP1	33514590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.773000	0.55333	2.535000	0.85469	0.586000	0.80456	TGC			0.562	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076151.4		XM_166407		A	33406612	G	A	33406612	3	1	20	1	0	0	0	0	1	0	0	0	15470	1319	46	2	1630	2	SYNGAP1	6	33406612	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	1369041	33406612	137708455	24	1274											
AGR3	155465	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	16918209	16918209	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagaaactgtgacgagtaAgaggcagagacccaaagctg	16	4	14	7	1	0	4	0	1	0	3	0	7	0	5	1	2	2	3	1	2	4	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr7:16918209A>G	ENST00000310398.2	-	2	104	c.34T>C	c.(34-36)Tta>Cta	p.L12L	AGR3_ENST00000402239.3_Silent_p.L12L	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	12						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GTGACGAGTAAGAGGCAGAGA	0.418																																					p.L12L													AGR3,NS,carcinoma,+1,1	AGR3	1	1	0			c.T34C												114	118	116					7																	16918209		2203	4300	6503	SO:0001819	synonymous_variant	155465	exon2			CGAGTAAGAGGCA	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"Protein disulfide isomerases"	24167	protein-coding gene	gene with protein product	"breast cancer membrane protein 11", "protein disulfide isomerase family A, member 18"	609482	"anterior gradient 3 homolog (Xenopus laevis)"			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.34T>C	7.37:g.16918209A>G			87	0	0		74	0.43	32	NM_176813	31	0.52	16	A4D120	Silent	SNP	ENST00000310398.2	37	CCDS5365.1																																																																																					0.418	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250191.2		NM_176813		G	16918209	A	G	16918209	2	3	20	1	0	0	0	0	0	0	0	1	396	69	3	4		4	AGR3	7	16918209	Silent	SNP	A	TCGA-2G-AAG5-01A-11D-A42Y-10		16918209	142220454	25	1275											
TFR2	7036	mdanderson.org	37	chr7	100231108	100231108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttctggcgggagagcGccgcgcgaatgtcctgagtc	6	7	15	13	5	1	2	0	1	1	1	3	4	2	2	3	2	2	1	3	2	1	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr7:100231108G>A	ENST00000462107.1	-	5	832	c.545C>T	c.(544-546)gCg>gTg	p.A182V	TFR2_ENST00000544242.1_5'Flank|TFR2_ENST00000431692.1_Missense_Mutation_p.A182V|TFR2_ENST00000223051.3_Missense_Mutation_p.A182V			Q9UP52	TFR2_HUMAN	transferrin receptor 2	182					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)	GCGGGAGAGCGCCGCGCGAAT	0.697																																					p.A182V													.	.			0			c.C545T												21	23	22					7																	100231108		2199	4298	6497	SO:0001583	missense	7036	exon4			GAGAGCGCCGCGC	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.545C>T	7.37:g.100231108G>A	ENSP00000420525:p.Ala182Val		41	0	0		35	0.09	3	NM_003227	2	0	0	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	8.345	0.829652	0.16749	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.53423	1.08;0.62;1.08	4.99	-2.17	0.07059	.	1.124030	0.06433	N	0.724479	T	0.27313	0.0670	N	0.19112	0.55	0.09310	N	1	B	0.26318	0.146	B	0.14578	0.011	T	0.19976	-1.0289	10	0.51188	T	0.08	-1.7422	3.8691	0.09029	0.2919:0.0:0.2184:0.4896	.	182	Q9UP52	TFR2_HUMAN	V	182	ENSP00000223051:A182V;ENSP00000413905:A182V;ENSP00000420525:A182V	ENSP00000223051:A182V	A	-	2	0	TFR2	100069044	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.815000	0.04481	-0.249000	0.09569	0.561000	0.74099	GCG			0.697	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356392.3		NM_003227		A	100231108	G	A	100231108	3	1	20	1	0	0	0	0	1	0	0	0	15834	1087	38	1	1920	1	TFR2	7	100231108	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	83312899	100231108	58907555	26	1276											
DOCK4	9732	mdanderson.org	37	chr7	111400315	111400315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgggggaactcgttcaGcattctctgttggaaggctt	7	12	14	8	1	2	0	1	0	1	0	4	2	2	2	0	5	2	5	0	5	2	4			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr7:111400315G>A	ENST00000437633.1	-	39	4313	c.4057C>T	c.(4057-4059)Ctg>Ttg	p.L1353L	DOCK4_ENST00000428084.1_Silent_p.L1362L|DOCK4_ENST00000494651.2_Silent_p.L236L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1353	DHR-2.				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)				AACTCGTTCAGCATTCTCTGT	0.512																																					p.L1353L													.	.			0			c.C4057T												170	174	173					7																	111400315		2115	4243	6358	SO:0001819	synonymous_variant	9732	exon39			CGTTCAGCATTCT		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.4057C>T	7.37:g.111400315G>A			66	0	0		58	0.09	5	NM_014705	12	0	0	O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	CCDS47688.1																																																																																					0.512	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338369.4		NM_014705		A	111400315	G	A	111400315	2	1	20	1	0	0	0	0	0	0	0	1	4694	962	34	2		2	DOCK4	7	111400315	Silent	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	11169207	111400315	47738348	27	1277											
GPR37	2861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	124386667	124386667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgagttccgtggtgtactcgTtgtcattgtcatcactggtc	5	15	11	10	3	3	0	3	0	0	0	6	1	4	0	1	2	1	3	1	2	1	4			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr7:124386667T>C	ENST00000303921.2	-	2	2404	c.1754A>G	c.(1753-1755)aAc>aGc	p.N585S		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	585					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGTACTCGTTGTCATTGTC	0.498																																					p.N585S													GPR37,NS,carcinoma,+1,2	GPR37	1	2	0			c.A1754G												180	150	160					7																	124386667		2203	4300	6503	SO:0001583	missense	2861	exon2			TACTCGTTGTCAT		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1754A>G	7.37:g.124386667T>C	ENSP00000306449:p.Asn585Ser		81	0	0		63	0.46	29	NM_005302	26	0.54	14	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.724088	0.30593	.	.	ENSG00000170775	ENST00000303921	T	0.70869	-0.52	5.35	5.35	0.76521	.	0.087590	0.45867	D	0.000324	T	0.48519	0.1504	N	0.03608	-0.345	0.38098	D	0.93717	B	0.24721	0.11	B	0.25884	0.064	T	0.51568	-0.8689	10	0.25106	T	0.35	-26.6558	14.5182	0.67833	0.0:0.0:0.0:1.0	.	585	O15354	GPR37_HUMAN	S	585	ENSP00000306449:N585S	ENSP00000306449:N585S	N	-	2	0	GPR37	124173903	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.197000	0.77814	2.014000	0.59158	0.533000	0.62120	AAC			0.498	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347873.1		NM_005302		C	124386667	T	C	124386667	3	2	20	1	0	0	0	0	1	0	0	0	6705	1725	60	4	91	4	GPR37	7	124386667	Missense_Mutation	SNP	T	TCGA-2G-AAG5-01A-11D-A42Y-10	12986352	124386667	34751996	28	1278											
NOS3	4846	mdanderson.org	37	chr7	150706579	150706579	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtctgcccgcccaaccgGcccggccttgtggaggcgct	3	7	15	16	4	1	0	0	0	1	0	1	1	1	1	5	5	2	1	5	5	1	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr7:150706579G>T	ENST00000297494.3	+	20	2775	c.2418G>T	c.(2416-2418)cgG>cgT	p.R806R	ATG9B_ENST00000494791.1_5'Flank|NOS3_ENST00000461406.1_Silent_p.R600R	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					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)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCCAACCGGCCCGGCCTTG	0.726																																					p.R806R													.	.			0			c.G2418T												5	8	7					7																	150706579		1951	3793	5744	SO:0001819	synonymous_variant	4846	exon20			CAACCGGCCCGGC		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2418G>T	7.37:g.150706579G>T			27	0	0		21	0.14	3	NM_000603	13	0	0	Q495E5	Silent	SNP	ENST00000297494.3	37	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002740	0.35320	.	.	ENSG00000164867	ENST00000475017	.	.	.	5.52	0.155	0.14906	.	.	.	.	.	T	0.40791	0.1131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24835	-1.0149	4	.	.	.	-0.5364	1.3741	0.02216	0.3156:0.1371:0.4065:0.1408	.	.	.	.	V	100	.	.	G	+	2	0	NOS3	150337512	0.020000	0.18652	0.997000	0.53966	0.995000	0.86356	-0.335000	0.07873	0.277000	0.22141	0.555000	0.69702	GGC			0.726	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350750.2		NM_000603		T	150706579	G	T	150706579	2	4	20	1	0	0	0	0	0	0	0	1	10561	1190	42	2		2	NOS3	7	150706579	Silent	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	26319912	150706579	8432084	29	1279											
MYST3	7994	mdanderson.org	37	chr8	41839445	41839445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactcgaaccgttagttcaGgggaaaactttaaacaggat	14	10	9	8	2	2	0	2	0	0	0	3	3	2	2	1	3	3	2	1	3	6	4			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr8:41839445G>A	ENST00000396930.3	-	5	1280	c.737C>T	c.(736-738)cCt>cTt	p.P246L	KAT6A_ENST00000265713.2_Missense_Mutation_p.P246L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P246L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P246L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	246	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CGTTAGTTCAGGGGAAAACTT	0.413																																					p.P246L													.	.			0			c.C737T												91	71	77					8																	41839445		2203	4300	6503	SO:0001583	missense	7994	exon5			AGTTCAGGGGAAA	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.737C>T	8.37:g.41839445G>A	ENSP00000380136:p.Pro246Leu		67	0	0		50	0.06	3	NM_001099412	11	0	0	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477956	0.63849	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	6.06	6.06	0.98353	.	0.153034	0.46145	D	0.000303	D	0.89969	0.6869	L	0.38531	1.155	0.80722	D	1	D;P	0.89917	1.0;0.468	D;P	0.97110	1.0;0.447	D	0.90059	0.4155	10	0.87932	D	0	-10.0804	20.6397	0.99537	0.0:0.0:1.0:0.0	.	246;246	A5PLL3;Q92794	.;KAT6A_HUMAN	L	246	ENSP00000265713:P246L;ENSP00000385888:P246L;ENSP00000380136:P246L;ENSP00000430606:P246L	ENSP00000265713:P246L	P	-	2	0	KAT6A	41958602	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	CCT			0.413	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318163.1		NM_006766		A	41839445	G	A	41839445	3	1	20	1	0	0	0	0	1	0	0	0	10120	1000	35	3	5333	3	MYST3	8	41839445	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		41839445	104524577	30	1280											
PREX2	80243	broad.mit.edu	37	chr8	68956766	68956766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagatggacatcggtaccTttttcgtggccggatcaaca	10	11	10	10	3	1	1	1	0	0	1	3	3	1	3	2	4	3	1	2	4	3	4			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr8:68956766T>C	ENST00000288368.4	+	8	1161	c.884T>C	c.(883-885)cTt>cCt	p.L295P	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	295	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CATCGGTACCTTTTTCGTGGC	0.403																																					p.L295P													.	PREX2	614		0			c.T884C												158	147	151					8																	68956766		2203	4300	6503	SO:0001583	missense	80243	exon8			GGTACCTTTTTCG	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.884T>C	8.37:g.68956766T>C	ENSP00000288368:p.Leu295Pro		150	0	0		173	0.02	3	NM_025170	7	0	0	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623271	0.87460	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.88046	-2.33	5.98	5.98	0.97165	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.072732	0.56097	D	0.000026	D	0.90373	0.6987	L	0.38175	1.15	0.80722	D	1	D;P;P	0.69078	0.997;0.485;0.935	D;B;P	0.72075	0.976;0.206;0.709	D	0.91267	0.5041	10	0.66056	D	0.02	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	295;295;295	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	P	295	ENSP00000288368:L295P	ENSP00000288368:L295P	L	+	2	0	PREX2	69119320	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.932000	0.63476	2.289000	0.77006	0.482000	0.46254	CTT			0.403	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378620.1		NM_025170		C	68956766	T	C	68956766	3	2	20	1	0	0	0	0	1	0	0	0	12497	1609	56	4	914	4	PREX2	8	68956766	Missense_Mutation	SNP	T	TCGA-2G-AAG5-01A-11D-A42Y-10	27117321	68956766	77407256	31	1281											
EIF2C2	27161	mdanderson.org	37	chr8	141554337	141554337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggagggcttcttcccaTccccggcgggggggtgagtg	5	8	17	11	2	1	1	0	1	1	0	3	2	3	2	3	6	0	1	3	6	1	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr8:141554337T>C	ENST00000220592.5	-	14	1926	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	AGO2_ENST00000519980.1_Missense_Mutation_p.D605G	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	605	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)										CTTCTTCCCATCCCCGGCGGG	0.647																																					p.D605G													.	.			0			c.A1814G												99	109	106					8																	141554337		2203	4300	6503	SO:0001583	missense	27161	exon14			TTCCCATCCCCGG	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.1814A>G	8.37:g.141554337T>C	ENSP00000220592:p.Asp605Gly		86	0.023255814	2		77	0.06	5	NM_012154	10	0	0	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.900613	0.92035	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.28255	1.62;1.62	5.35	5.35	0.76521	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	M	0.86573	2.825	0.80722	D	1	D;D	0.71674	0.998;0.982	D;D	0.69824	0.966;0.964	T	0.67632	-0.5621	10	0.59425	D	0.04	-6.1325	15.6315	0.76912	0.0:0.0:0.0:1.0	.	605;605	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	G	605	ENSP00000220592:D605G;ENSP00000430176:D605G	ENSP00000220592:D605G	D	-	2	0	EIF2C2	141623519	1.000000	0.71417	0.854000	0.33618	0.897000	0.52465	7.942000	0.87708	2.151000	0.67156	0.528000	0.53228	GAT			0.647	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377866.4				C	141554337	T	C	141554337	3	2	20	1	0	0	0	0	1	0	0	0	5011	1435	50	4	789	4	EIF2C2	8	141554337	Missense_Mutation	SNP	T	TCGA-2G-AAG5-01A-11D-A42Y-10	72597571	141554337	4809685	32	1282											
LRSAM1	90678	mdanderson.org	37	chr9	130249959	130249959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtctttctggcagcatgGccgaaatggatgaacgattc	9	11	12	9	2	2	1	0	1	2	0	3	4	2	2	1	3	2	3	1	3	2	2	rs372452916		TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr9:130249959G>T	ENST00000323301.4	+	17	1868	c.1264G>T	c.(1264-1266)Gcc>Tcc	p.A422S	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A422S|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A422S|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A422S	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	422					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						TGGCAGCATGGCCGAAATGGA	0.512																																					p.A422S													.	.			0			c.G1264T												76	67	70					9																	130249959		2203	4300	6503	SO:0001583	missense	90678	exon18			AGCATGGCCGAAA	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.1264G>T	9.37:g.130249959G>T	ENSP00000322937:p.Ala422Ser		54	0	0		33	0.09	3	NM_001190723	62	0	0	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173014	0.78452	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.74737	1.32;-0.87;1.32;1.32	5.34	5.34	0.76211	.	0.101533	0.64402	D	0.000002	T	0.80949	0.4722	L	0.39898	1.24	0.49687	D	0.999814	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.985	T	0.78695	-0.2104	10	0.33141	T	0.24	-9.6544	16.5219	0.84319	0.0:0.0:1.0:0.0	.	422;422	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	S	422	ENSP00000300417:A422S;ENSP00000362421:A422S;ENSP00000322937:A422S;ENSP00000362419:A422S	ENSP00000300417:A422S	A	+	1	0	LRSAM1	129289780	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.887000	0.87295	2.501000	0.84356	0.655000	0.94253	GCC			0.512	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054164.1		NM_138361		T	130249959	G	T	130249959	3	4	20	1	0	0	0	0	1	0	0	0	9059	1203	42	2	1326	2	LRSAM1	9	130249959	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		130249959	10963472	33	1283											
LRRC8A	56262	broad.mit.edu	37	chr9	131670156	131670156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacaagaaggagggggAgcaagccaaggcgctgtttg	11	5	18	7	1	0	1	0	0	0	1	0	4	0	4	1	5	2	4	1	5	4	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr9:131670156A>G	ENST00000259324.5	+	3	1236	c.713A>G	c.(712-714)gAg>gGg	p.E238G	LRRC8A_ENST00000372600.4_Missense_Mutation_p.E238G|LRRC8A_ENST00000372599.3_Missense_Mutation_p.E238G	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	238					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						AAGGAGGGGGAGCAAGCCAAG	0.607																																					p.E238G													.	LRRC8A	69		0			c.A713G												120	115	117					9																	131670156		2203	4300	6503	SO:0001583	missense	56262	exon3			AGGGGGAGCAAGC	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.713A>G	9.37:g.131670156A>G	ENSP00000259324:p.Glu238Gly		107	0.0186915888	2		78	0.06	5	NM_001127244	99	0.01	1	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.159927	0.57368	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.35789	1.29;1.29;1.29	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66822	-0.5826	10	0.87932	D	0	.	14.6237	0.68605	1.0:0.0:0.0:0.0	.	238	Q8IWT6	LRC8A_HUMAN	G	238	ENSP00000361682:E238G;ENSP00000361680:E238G;ENSP00000259324:E238G	ENSP00000259324:E238G	E	+	2	0	LRRC8A	130709977	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	9.339000	0.96797	2.052000	0.61016	0.460000	0.39030	GAG			0.607	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054516.2		NM_019594		G	131670156	A	G	131670156	3	3	20	1	0	0	0	0	1	0	0	0	9037	304	11	4	715	4	LRRC8A	9	131670156	Missense_Mutation	SNP	A	TCGA-2G-AAG5-01A-11D-A42Y-10	1420197	131670156	9543275	34	1284											
TLX1	3195	broad.mit.edu	37	chr10	102891433	102891433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcctccaggacggagaataCggccttggctgcttggtcgg	6	8	15	12	4	0	1	0	0	0	1	2	3	1	2	3	6	2	2	3	6	2	3			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr10:102891433C>T	ENST00000370196.6	+	1	2177	c.135C>T	c.(133-135)taC>taT	p.Y45Y	TLX1_ENST00000467928.2_Silent_p.Y45Y|TLX1NB_ENST00000445873.1_5'Flank|TLX1NB_ENST00000425505.1_5'Flank			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	45					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACGGAGAATACGGCCTTGGCT	0.692			T	"TRB@, TRD@"	T-ALL																																p.Y45Y				Dom	yes		10	10q24	3195	" T-cell leukemia, homeobox 1 (HOX11)"		L	.	TLX1	20		0			c.C135T												17	19	18					10																	102891433		2199	4297	6496	SO:0001819	synonymous_variant	3195	exon1			AGAATACGGCCTT	M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"Homeoboxes / ANTP class : NKL subclass"	5056	protein-coding gene	gene with protein product	"Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)", "homeo box 11 (T-cell lymphoma 3-associated breakpoint)"	186770	"homeo box 11 (T-cell lymphoma 3-associated breakpoint)", "T-cell leukemia, homeobox 1"	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.135C>T	10.37:g.102891433C>T			67	0	0		93	0.05	5	NM_005521	1	0	0	A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Silent	SNP	ENST00000370196.6	37	CCDS7510.1																																																																																					0.692	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051193.3		NM_005521		T	102891433	C	T	102891433	2	4	20	1	0	0	0	0	0	0	0	1	15982	547	19	1		1	TLX1	10	102891433	Silent	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10		102891433	32643314	35	1285											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118386476	118386476	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaaacattcgggttgttggGgcggagacagctttcttaat	10	12	12	7	2	1	1	0	0	1	1	2	2	1	1	0	4	2	3	0	4	3	5			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr10:118386476G>T	ENST00000298771.7	+	0	457				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GGGTTGTTGGGGCGGAGACAG	0.567																																					.													.	PNLIPRP2	103		0			.												76	72	74					10																	118386476		1947	4195	6142			5408	.			TGTTGGGGCGGAG	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118386476G>T			137	0	0		174	0.02	4	.	2	0	0	A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37																																																																																						0.567	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene		OTTHUMT00000050546.6		NM_005396		T	118386476	G	T	118386476	1	4	20	0	1	0	0	0	0	0	0	0	12168	1219	43	3		3	PNLIPRP2	10	118386476	RNA	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	15495043	118386476	17148271	36	1286											
DBX1	120237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	20180817	20180818	+	Missense_Mutation	DNP	TG	TG	CT																															aggtcttgggagggacgctcTggagcaaggctggggatgtt																										TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	TG	TG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr11:20180817_20180818TG>CT	ENST00000524983.2	-	2	676_677	c.388_389CA>AG	c.(388-390)CAg>AGg	p.Q130R	DBX1_ENST00000227256.3_Missense_Mutation_p.Q130R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	130					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AGGGACGCTCTGGAGCAAGGCT	0.52																																					p.Q130R													.	.			0			c.C388A																																									SO:0001583	missense	120237	exon2			ACGCTCTGGAGCA			11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.388_389delinsCT	11.37:g.20180817_20180818delinsCT	ENSP00000436881:p.Gln130Arg		94	0	0		77	0.13	10	NM_001029865	0		0		Missense_Mutation	DNP	ENST00000524983.2	37																																																																																						0.52	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000387585.2		NM_001029865		CT	20180818	TG	CT	20180817	3	2	20	1	0	0	0	0	1	0	0	0	4261	1580	55	4	771	4	DBX1	11	20180817	Missense_Mutation	DNP	TG	TCGA-2G-AAG5-01A-11D-A42Y-10		20180817	114825699	37	1287											
FNBP4	23360	mdanderson.org	37	chr11	47755578	47755578	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaaaaagacttaccTcagtctgtaagagcagcaca	21	6	6	8	0	2	2	1	0	1	2	2	2	2	2	1	0	3	3	1	0	8	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr11:47755578T>C	ENST00000263773.5	-	10	1697	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	562						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						AAGACTTACCTCAGTCTGTAA	0.348																																					p.E562G													FNBP4,NS,carcinoma,-1,1	FNBP4	-1	1	0			c.A1685G												75	72	73					11																	47755578		1822	4079	5901	SO:0001630	splice_region_variant	23360	exon10			CTTACCTCAGTCT	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.1686+1A>G	11.37:g.47755578T>C			45	0.1777777778	8		38	0.26	10	NM_015308	84	0	0	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	T	31	5.087025	0.94100	.	.	ENSG00000109920	ENST00000263773	T	0.10382	2.88	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01140	-1.1439	10	0.87932	D	0	-17.5756	16.2644	0.82568	0.0:0.0:0.0:1.0	.	562	Q8N3X1	FNBP4_HUMAN	G	562	ENSP00000263773:E562G	ENSP00000263773:E562G	E	-	2	0	FNBP4	47712154	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.018000	0.88722	2.244000	0.73946	0.528000	0.53228	GAG			0.348	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390237.3			Missense_Mutation	C	47755578	T	C	47755578	5	2	20	1	0	0	0	0	0	0	1	0	5980	1565	54	4	1400	4	FNBP4	11	47755578	Splice_Site	SNP	T	TCGA-2G-AAG5-01A-11D-A42Y-10	27574761	47755578	87250938	38	1288											
MEN1	4221	mdanderson.org	37	chr11	64577508	64577508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcctctcggcccagctcgGcagcaaacaggcgcaccacg	8	4	11	18	4	1	0	0	0	1	0	4	0	2	0	3	3	3	5	3	3	1	0			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr11:64577508G>A	ENST00000337652.1	-	2	577	c.74C>T	c.(73-75)gCc>gTc	p.A25V	MEN1_ENST00000443283.1_Missense_Mutation_p.A25V|MEN1_ENST00000394376.1_Missense_Mutation_p.A25V|MEN1_ENST00000315422.4_Missense_Mutation_p.A25V|MEN1_ENST00000377321.1_Missense_Mutation_p.A25V|MEN1_ENST00000377316.2_Missense_Mutation_p.A25V|MEN1_ENST00000394374.2_Missense_Mutation_p.A25V|MEN1_ENST00000312049.6_Missense_Mutation_p.A25V|MEN1_ENST00000377313.1_Missense_Mutation_p.A25V|MEN1_ENST00000377326.3_Missense_Mutation_p.A25V	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	25					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.L22_P59del(1)|p.M1fs*82(1)|p.L13fs*86(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						GCCCAGCTCGGCAGCAAACAG	0.672			"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																												p.A25V	Esophageal Squamous(1;83 158 15500 18603 18803 29295)		yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	.			3	Deletion - Frameshift(2)|Deletion - In frame(1)	pancreas(2)|parathyroid(1)	c.C74T												30	32	31					11																	64577508		2185	4251	6436	SO:0001583	missense	4221	exon2	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	AGCTCGGCAGCAA	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.74C>T	11.37:g.64577508G>A	ENSP00000337088:p.Ala25Val		39	0	0		36	0.08	3	NM_130803	32	0	0	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886184	0.51908	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626;ENST00000429702;ENST00000424912	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	4.89	4.89	0.63831	.	0.214010	0.38663	N	0.001614	D	0.97362	0.9137	N	0.22421	0.69	0.39122	D	0.961679	P;P;P	0.50819	0.667;0.939;0.714	B;P;B	0.47206	0.155;0.541;0.241	D	0.96766	0.9565	10	0.30078	T	0.28	-27.604	11.8044	0.52145	0.0:0.1773:0.8227:0.0	.	25;25;25	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	V	25	ENSP00000366533:A25V;ENSP00000366538:A25V;ENSP00000366543:A25V;ENSP00000308975:A25V;ENSP00000323747:A25V;ENSP00000337088:A25V;ENSP00000377901:A25V;ENSP00000377899:A25V;ENSP00000396940:A25V;ENSP00000366530:A25V;ENSP00000413944:A25V;ENSP00000394933:A25V;ENSP00000411218:A25V;ENSP00000402752:A25V;ENSP00000388016:A25V	ENSP00000308975:A25V	A	-	2	0	MEN1	64334084	0.899000	0.30636	0.834000	0.33040	0.568000	0.35870	4.036000	0.57304	2.433000	0.82419	0.462000	0.41574	GCC			0.672	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000143881.1				A	64577508	G	A	64577508	3	1	20	1	0	0	0	0	1	0	0	0	9488	1203	42	2	1809	2	MEN1	11	64577508	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	16821930	64577508	70429008	39	1289											
SIPA1	6494	mdanderson.org	37	chr11	65414526	65414526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtgggcgaggtggtggCgcgcctgcaggtgagctgga	5	6	21	9	4	0	1	0	1	0	0	0	3	0	2	2	6	3	2	2	6	0	0			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr11:65414526C>T	ENST00000394224.3	+	8	2317	c.2021C>T	c.(2020-2022)gCg>gTg	p.A674V	SIPA1_ENST00000394227.3_Missense_Mutation_p.A572V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A674V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A572V|MIR4489_ENST00000578869.1_RNA	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	674					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GAGGTGGTGGCGCGCCTGCAG	0.721																																					p.A674V													.	.			0			c.C2021T												5	5	5					11																	65414526		2083	4023	6106	SO:0001583	missense	6494	exon8			TGGTGGCGCGCCT	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2021C>T	11.37:g.65414526C>T	ENSP00000377771:p.Ala674Val		15	0	0		8	0.25	2	NM_006747	13	0	0	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849673	0.71603	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	3.28	2.33	0.28932	.	0.443443	0.18177	U	0.149245	T	0.24084	0.0583	N	0.24115	0.695	0.23572	N	0.997386	B;B	0.27971	0.157;0.196	B;B	0.19666	0.026;0.017	T	0.13045	-1.0524	10	0.49607	T	0.09	-6.0119	5.8875	0.18890	0.222:0.5618:0.2162:0.0	.	572;674	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	674;572;674;572	ENSP00000436269:A674V;ENSP00000433686:A572V;ENSP00000377771:A674V;ENSP00000377774:A572V	ENSP00000377771:A674V	A	+	2	0	SIPA1	65171102	0.084000	0.21492	0.930000	0.37139	0.768000	0.43524	1.000000	0.29770	0.691000	0.31592	0.185000	0.17295	GCG			0.721	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390356.1		NM_006747		T	65414526	C	T	65414526	3	4	20	1	0	0	0	0	1	0	0	0	14351	768	27	1	2047	1	SIPA1	11	65414526	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	837018	65414526	69591990	40	1290											
MYEOV	26579	broad.mit.edu	37	chr11	69063822	69063822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcctcctccaccaccTcctcctcctcctcctcatca	4	12	0	25	0	3	0	2	0	1	0	12	0	11	0	11	0	0	0	11	0	0	0			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr11:69063822T>A	ENST00000308946.3	+	3	1355	c.905T>A	c.(904-906)cTc>cAc	p.L302H	MYEOV_ENST00000535407.1_Missense_Mutation_p.L244H|MYEOV_ENST00000441339.2_Missense_Mutation_p.L302H	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	302										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		ctccaccacctcctcctcctc	0.577																																					p.L302H													.	MYEOV	42		0			c.T905A												39	35	36					11																	69063822		2198	4289	6487	SO:0001583	missense	26579	exon3			ACCACCTCCTCCT	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.905T>A	11.37:g.69063822T>A	ENSP00000308330:p.Leu302His		103	0.0194174757	2		92	0.07	6	NM_138768	4	0	0	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.704894	0.00719	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.27402	1.68;1.68;1.67	1.23	-2.46	0.06461	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	P	0.43352	0.804	B	0.34489	0.184	T	0.15263	-1.0443	9	0.87932	D	0	.	0.7984	0.01070	0.1638:0.2594:0.1641:0.4128	.	302	Q96EZ4	MYEOV_HUMAN	H	302;302;244	ENSP00000412482:L302H;ENSP00000308330:L302H;ENSP00000438100:L244H	ENSP00000308330:L302H	L	+	2	0	MYEOV	68820398	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.679000	0.05203	-3.385000	0.00174	-2.750000	0.00124	CTC			0.577	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396548.1				A	69063822	T	A	69063822	3	1	20	1	0	0	0	0	1	0	0	0	10041	1551	54	5	911	5	MYEOV	11	69063822	Missense_Mutation	SNP	T	TCGA-2G-AAG5-01A-11D-A42Y-10	3649296	69063822	65942694	41	1291											
SLC37A4	51399	mdanderson.org	37	chr11	118897770	118897770	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggtaaggggacagcaGcagctcctgcagggtgctct	9	6	14	12	0	1	0	0	0	1	0	2	1	2	1	2	4	5	6	2	4	1	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr11:118897770G>T	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000545985.1_Missense_Mutation_p.L221M|SLC37A4_ENST00000330775.7_Missense_Mutation_p.L220M|SLC37A4_ENST00000538950.1_Missense_Mutation_p.L148M|SLC37A4_ENST00000357590.5_Missense_Mutation_p.L221M	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGGACAGCAGCAGCTCCTGC	0.587																																					p.L221M													.	.			0			c.C661A												45	46	45					11																	118897770		1949	4152	6101	SO:0001628	intergenic_variant	2542	exon6			ACAGCAGCAGCTC	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118897770G>T			16	0	0		19	0.11	2	NM_001467	130	0	0	A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1																																																																																					0.587	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389332.1		NM_016146		T	118897770	G	T	118897770	1	4	20	0	1	0	0	0	0	0	0	0	14623	962	34	2		2	SLC37A4	11	118897770	IGR	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	49833948	118897770	16108746	42	1292											
ROBO3	64221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	124740969	124740969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctcctggagagagcgtgGctttccagtgcgagaccaaa	10	7	13	11	2	0	2	0	0	0	2	2	5	2	3	3	2	3	2	3	2	1	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr11:124740969G>A	ENST00000397801.1	+	7	1285	c.1093G>A	c.(1093-1095)Gct>Act	p.A365T	ROBO3_ENST00000538940.1_Missense_Mutation_p.A343T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	365	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGAGAGCGTGGCTTTCCAGTG	0.607																																					p.A365T													.	.			0			c.G1093A												44	49	48					11																	124740969		1975	4152	6127	SO:0001583	missense	64221	exon7			AGCGTGGCTTTCC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1093G>A	11.37:g.124740969G>A	ENSP00000380903:p.Ala365Thr		85	0	0		86	0.41	35	NM_022370	0		0		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	2.293	-0.361968	0.05103	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.72167	-0.63;-0.63	4.3	-3.28	0.05033	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.917269	0.08834	N	0.886905	T	0.24812	0.0602	N	0.00205	-1.85	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.49679	-0.8914	10	0.02654	T	1	.	7.0373	0.25000	0.6883:0.0:0.1692:0.1425	.	365	Q96MS0	ROBO3_HUMAN	T	365;343	ENSP00000380903:A365T;ENSP00000441797:A343T	ENSP00000380903:A365T	A	+	1	0	ROBO3	124246179	1.000000	0.71417	0.221000	0.23827	0.658000	0.38924	1.401000	0.34589	-0.488000	0.06726	0.455000	0.32223	GCT			0.607	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387091.1		XM_370663		A	124740969	G	A	124740969	3	1	20	1	0	0	0	0	1	0	0	0	13538	1203	42	2	1119	2	ROBO3	11	124740969	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	5843199	124740969	10265547	43	1293											
WNT1	7471	broad.mit.edu	37	chr12	49375067	49375067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgaccgcttcgacggcGcctcgcgcgtcctgtacggc	3	7	14	17	10	0	0	0	0	0	0	3	2	1	0	3	2	2	2	3	2	1	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr12:49375067G>T	ENST00000293549.3	+	4	793	c.757G>T	c.(757-759)Gcc>Tcc	p.A253S		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	253					bone development (GO:0060348)|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)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	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)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CTTCGACGGCGCCTCGCGCGT	0.741																																					p.A253S													.	WNT1	13		0			c.G757T												10	11	11					12																	49375067		2189	4220	6409	SO:0001583	missense	7471	exon4			GACGGCGCCTCGC	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.757G>T	12.37:g.49375067G>T	ENSP00000293549:p.Ala253Ser		76	0.0131578947	1		110	0.05	6	NM_005430	0		0	Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	37	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289192	0.80914	.	.	ENSG00000125084	ENST00000293549;ENST00000380414	D	0.82526	-1.62	4.3	3.37	0.38596	.	0.000000	0.85682	D	0.000000	D	0.84401	0.5464	M	0.76170	2.325	0.80722	D	1	P	0.42409	0.779	P	0.46339	0.513	D	0.84855	0.0816	10	0.56958	D	0.05	.	11.4187	0.49967	0.0:0.1837:0.8163:0.0	.	253	P04628	WNT1_HUMAN	S	253;89	ENSP00000293549:A253S	ENSP00000293549:A253S	A	+	1	0	WNT1	47661334	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	9.563000	0.98148	1.113000	0.41760	0.561000	0.74099	GCC			0.741	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408937.1				T	49375067	G	T	49375067	3	4	20	1	0	0	0	0	1	0	0	0	17405	1087	38	1	771	1	WNT1	12	49375067	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		49375067	84476828	44	1294											
CIT	11113	mdanderson.org	37	chr12	120127985	120127985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacagcggggtcctcaCggctcccgcaggcagccggc	5	4	16	16	4	1	0	1	0	0	0	3	1	3	1	3	6	2	3	3	6	0	0			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr12:120127985C>T	ENST00000261833.7	-	46	6083	c.6031G>A	c.(6031-6033)Gtg>Atg	p.V2011M	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.V2053M	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	2011					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)		GGGGTCCTCACGGCTCCCGCA	0.677																																					p.V2053M													.	.			0			c.G6157A												14	15	15					12																	120127985		2073	4109	6182	SO:0001583	missense	11113	exon47			TCCTCACGGCTCC	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.6031G>A	12.37:g.120127985C>T	ENSP00000261833:p.Val2011Met		16	0	0		15	0.13	2	NM_001206999	8	0	0	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115379	0.77323	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.68331	-0.29;-0.32	5.4	5.4	0.78164	.	0.150088	0.43919	D	0.000520	T	0.64571	0.2610	L	0.34521	1.04	0.46260	D	0.998955	P;P;P	0.49862	0.899;0.929;0.927	B;P;B	0.45971	0.271;0.499;0.42	T	0.69135	-0.5225	10	0.72032	D	0.01	.	19.5306	0.95228	0.0:1.0:0.0:0.0	.	2053;2011;1528	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	M	2053;2011	ENSP00000376306:V2053M;ENSP00000261833:V2011M	ENSP00000261833:V2011M	V	-	1	0	CIT	118612368	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	5.313000	0.65798	2.665000	0.90641	0.655000	0.94253	GTG			0.677	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000259410.4		NM_007174		T	120127985	C	T	120127985	3	4	20	1	0	0	0	0	1	0	0	0	3440	536	19	1	60	1	CIT	12	120127985	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	70752918	120127985	13723910	45	1295											
ACIN1	22985	broad.mit.edu	37	chr14	23528416	23528416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccggcttctgctgtggcGcttggtgtccctgcgatccc	2	12	12	15	3	1	0	0	0	1	0	4	1	4	0	3	3	2	3	3	3	0	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr14:23528416G>A	ENST00000262710.1	-	19	4294	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	ACIN1_ENST00000457657.1_Missense_Mutation_p.R1283C|CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1265C|ACIN1_ENST00000338631.6_Missense_Mutation_p.R596C|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1310C|ACIN1_ENST00000357481.2_Missense_Mutation_p.R565C|ACIN1_ENST00000557515.1_Missense_Mutation_p.R564C|ACIN1_ENST00000397341.3_Missense_Mutation_p.R565C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1323	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGCTGTGGCGCTTGGTGTCC	0.652											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1323C													ACIN1_ENST00000338631,NS,carcinoma,+1,2	ACIN1	147	2	0			c.C3967T												126	101	109					14																	23528416		2203	4300	6503	SO:0001583	missense	22985	exon19			TGTGGCGCTTGGT	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3967C>T	14.37:g.23528416G>A	ENSP00000262710:p.Arg1323Cys		159	0	0	764	111	0.04	4	NM_014977	300	0.09	27	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956516	0.53293	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.45	3.47	0.39725	.	0.000000	0.41396	D	0.000891	T	0.39886	0.1095	N	0.14661	0.345	0.48762	D	0.999706	D;D;D;D;D	0.76494	0.999;0.999;0.997;0.989;0.989	P;P;P;B;B	0.60949	0.881;0.764;0.649;0.266;0.266	T	0.35968	-0.9767	10	0.87932	D	0	-5.0965	9.7553	0.40500	0.0:0.0:0.644:0.356	.	1310;1323;1283;596;565	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	C	564;596;565;1323;1283;565;1310	ENSP00000451138:R564C;ENSP00000345541:R596C;ENSP00000350073:R565C;ENSP00000262710:R1323C;ENSP00000405677:R1283C;ENSP00000380502:R565C;ENSP00000451328:R1310C	ENSP00000262710:R1323C	R	-	1	0	ACIN1	22598256	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.237000	0.32695	2.456000	0.83038	0.563000	0.77884	CGC			0.652	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000071707.3	rescued with RNA-seq	NM_014977		A	23528416	G	A	23528416	3	1	20	1	0	0	0	0	1	0	0	0	142	1087	38	1	62	1	ACIN1	14	23528416	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		23528416	83821124	46	1296											
TRIM9	114088	mdanderson.org	37	chr14	51489585	51489585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgctccttgttgacgcGggccagcagctgggcttttc	4	12	12	13	2	1	1	1	1	0	0	3	1	2	1	2	2	3	5	2	2	0	4			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr14:51489585G>T	ENST00000298355.3	-	3	2130	c.1009C>A	c.(1009-1011)Cgc>Agc	p.R337S	TRIM9_ENST00000360392.4_Missense_Mutation_p.R337S|TRIM9_ENST00000338969.5_Missense_Mutation_p.R337S	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	337					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTGTTGACGCGGGCCAGCAGC	0.557																																					p.R337S													TRIM9_ENST00000360392,NS,carcinoma,+2,5	TRIM9_ENST00000360392	2	5	0			c.C1009A												125	115	119					14																	51489585		2203	4300	6503	SO:0001583	missense	114088	exon3			TGACGCGGGCCAG	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1009C>A	14.37:g.51489585G>T	ENSP00000298355:p.Arg337Ser		72	0	0		48	0.06	3	NM_052978	0		0	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692369	0.48202	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.69926	-0.32;-0.44;0.59	5.58	5.58	0.84498	B-box, C-terminal (1);	0.058088	0.64402	D	0.000001	T	0.59865	0.2225	L	0.29908	0.895	0.45261	D	0.998268	B;B;B	0.29531	0.163;0.247;0.025	B;B;B	0.35240	0.198;0.154;0.035	T	0.54470	-0.8289	10	0.22706	T	0.39	.	18.5617	0.91102	0.0:0.0:1.0:0.0	.	337;337;337	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	S	337	ENSP00000298355:R337S;ENSP00000342970:R337S;ENSP00000353561:R337S	ENSP00000298355:R337S	R	-	1	0	TRIM9	50559335	1.000000	0.71417	0.943000	0.38184	0.959000	0.62525	4.225000	0.58600	2.636000	0.89361	0.655000	0.94253	CGC			0.557	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276874.1		NM_015163		T	51489585	G	T	51489585	3	4	20	1	0	0	0	0	1	0	0	0	16573	1116	39	1	1205	1	TRIM9	14	51489585	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	27961169	51489585	55859955	47	1297											
FOS	2353	mdanderson.org	37	chr14	75747810	75747810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgacttcctgttcccaGcatcatccaggcccagtggc	7	11	9	14	0	1	2	1	2	0	0	4	2	4	2	4	2	1	2	4	2	0	3			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr14:75747810G>T	ENST00000303562.4	+	4	1035	c.826G>T	c.(826-828)Gca>Tca	p.A276S	FOS_ENST00000555686.1_Missense_Mutation_p.A162S|FOS_ENST00000555347.1_Missense_Mutation_p.A128S|FOS_ENST00000535987.1_Missense_Mutation_p.A240S	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	276					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CCTGTTCCCAGCATCATCCAG	0.582																																					p.A276S													.	.			0			c.G826T												63	59	60					14																	75747810		2203	4300	6503	SO:0001583	missense	2353	exon4			TTCCCAGCATCAT	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.826G>T	14.37:g.75747810G>T	ENSP00000306245:p.Ala276Ser		35	0	0		22	0.09	2	NM_005252	582	0	0	A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.137990	0.01742	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555672;ENST00000555347	T;T;T	0.62105	0.63;1.06;0.05	5.22	4.27	0.50696	.	0.444016	0.24864	N	0.034992	T	0.31295	0.0792	N	0.08118	0	0.31318	N	0.686368	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.36768	-0.9734	10	0.02654	T	1	-8.0344	5.2723	0.15632	0.0798:0.1444:0.6267:0.1491	.	240;276	B4DQ65;P01100	.;FOS_HUMAN	S	276;240;162;126;128	ENSP00000306245:A276S;ENSP00000442268:A240S;ENSP00000452590:A162S	ENSP00000306245:A276S	A	+	1	0	FOS	74817563	0.000000	0.05858	0.881000	0.34555	0.820000	0.46376	0.248000	0.18198	2.609000	0.88269	0.563000	0.77884	GCA			0.582	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415044.1		NM_005252		T	75747810	G	T	75747810	3	4	20	1	0	0	0	0	1	0	0	0	5998	971	34	2	840	2	FOS	14	75747810	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	24258225	75747810	31601730	48	1298											
DISP2	85455	mdanderson.org	37	chr15	40660600	40660600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttcctgttcgagcagctgCcgcagggcgagggcggccac	5	7	16	13	4	0	0	0	0	0	0	2	2	1	0	3	3	3	5	3	3	0	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr15:40660600C>T	ENST00000267889.3	+	8	2374	c.2287C>T	c.(2287-2289)Ccg>Tcg	p.P763S	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	763					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGAGCAGCTGCCGCAGGGCGA	0.701																																					p.P763S													.	.			0			c.C2287T												40	45	43					15																	40660600		2201	4296	6497	SO:0001583	missense	85455	exon8			CAGCTGCCGCAGG	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2287C>T	15.37:g.40660600C>T	ENSP00000267889:p.Pro763Ser		42	0	0		39	0.08	3	NM_033510	0		0	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.544819	0.00142	.	.	ENSG00000140323	ENST00000267889	T	0.10382	2.88	4.82	1.9	0.25705	.	0.742488	0.13450	N	0.386944	T	0.08088	0.0202	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.44574	-0.9319	10	0.09084	T	0.74	-0.4572	7.5837	0.27980	0.0:0.3647:0.4656:0.1697	.	763	A7MBM2	DISP2_HUMAN	S	763	ENSP00000267889:P763S	ENSP00000267889:P763S	P	+	1	0	DISP2	38447892	0.778000	0.28640	0.132000	0.22025	0.010000	0.07245	1.369000	0.34227	0.248000	0.21435	-1.254000	0.01491	CCG			0.701	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252249.1		NM_033510		T	40660600	C	T	40660600	3	4	20	1	0	0	0	0	1	0	0	0	4545	739	26	2	2317	2	DISP2	15	40660600	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10		40660600	61870792	49	1299											
FSD2	123722	hgsc.bcm.edu	37	chr15	83455275	83455275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttacctccacagtgatGaaaacctcctccaaatgatt	12	11	5	13	0	1	3	0	3	1	0	4	3	4	3	5	0	2	1	5	0	4	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr15:83455275G>T	ENST00000334574.8	-	3	904	c.723C>A	c.(721-723)ttC>ttA	p.F241L	FSD2_ENST00000541889.1_Missense_Mutation_p.F241L			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	241										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCACAGTGATGAAAACCTCCT	0.393																																					p.F241L													.	.			0			c.C723A												119	109	112					15																	83455275		1904	4124	6028	SO:0001583	missense	123722	exon3			AGTGATGAAAACC	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.723C>A	15.37:g.83455275G>T	ENSP00000335651:p.Phe241Leu		120	0	0		96	0.05	5	NM_001007122	0		0	B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348685	0.82132	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.25912	1.77;1.77	5.39	3.52	0.40303	.	0.057709	0.64402	D	0.000001	T	0.42131	0.1189	M	0.64997	1.995	0.37369	D	0.911534	D;D	0.63880	0.99;0.993	D;P	0.63488	0.915;0.804	T	0.39333	-0.9619	10	0.35671	T	0.21	-21.8944	11.0846	0.48080	0.1489:0.0:0.8511:0.0	.	241;241	B7ZM02;A1L4K1	.;FSD2_HUMAN	L	241	ENSP00000335651:F241L;ENSP00000444078:F241L	ENSP00000335651:F241L	F	-	3	2	FSD2	81252329	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.809000	0.55606	0.663000	0.31027	0.655000	0.94253	TTC			0.393	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418385.1		NM_001007122		T	83455275	G	T	83455275	3	4	20	1	0	0	0	0	1	0	0	0	6084	1281	45	3	1570	3	FSD2	15	83455275	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	42794675	83455275	19076117	50	1300											
KIF7	374654	mdanderson.org	37	chr15	90188603	90188603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcatccaactcctcaaGgcaaagctctgggcccttcc	8	8	9	16	0	2	0	1	0	1	0	5	0	5	0	4	3	3	4	4	3	3	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr15:90188603G>T	ENST00000394412.3	-	9	2078	c.2002C>A	c.(2002-2004)Ctt>Att	p.L668I		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	668	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AACTCCTCAAGGCAAAGCTCT	0.632																																					p.L668I													.	.			0			c.C2002A												102	84	90					15																	90188603		2200	4299	6499	SO:0001583	missense	374654	exon9			CCTCAAGGCAAAG	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2002C>A	15.37:g.90188603G>T	ENSP00000377934:p.Leu668Ile		62	0	0		55	0.05	3	NM_198525	22	0	0	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	g	10.06	1.247752	0.22880	.	.	ENSG00000166813	ENST00000394412	T	0.70399	-0.48	4.38	4.38	0.52667	.	0.426995	0.24078	N	0.041745	T	0.59238	0.2179	L	0.47716	1.5	0.09310	N	1	B;B	0.30193	0.005;0.272	B;B	0.25884	0.008;0.064	T	0.52185	-0.8609	10	0.36615	T	0.2	.	8.7876	0.34830	0.108:0.0:0.892:0.0	.	155;668	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	I	668	ENSP00000377934:L668I	ENSP00000377934:L668I	L	-	1	0	KIF7	87989607	0.006000	0.16342	0.008000	0.14137	0.074000	0.17049	1.352000	0.34033	2.147000	0.66899	0.454000	0.30748	CTT			0.632	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347782.1		NM_198525		T	90188603	G	T	90188603	3	4	20	1	0	0	0	0	1	0	0	0	8324	1000	35	3	2073	3	KIF7	15	90188603	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	6733328	90188603	12342789	51	1301											
FAM169B	283777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	98982942	98982942	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactccacactctggatcaTcctttgtgtcttccagttct	6	15	5	15	0	4	0	1	0	3	0	7	1	7	1	4	1	0	1	4	1	0	3	rs34036460		TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr15:98982942T>A	ENST00000558256.1	-	7	746	c.497A>T	c.(496-498)gAt>gTt	p.D166V	FAM169B_ENST00000332908.4_Missense_Mutation_p.D166V	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	166										large_intestine(3)|lung(3)|urinary_tract(1)	7						CTCTGGATCATCCTTTGTGTC	0.542																																					p.D166V													.	.			0			c.A497T												98	96	96					15																	98982942		2010	4167	6177	SO:0001583	missense	283777	exon7			GGATCATCCTTTG		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.497A>T	15.37:g.98982942T>A	ENSP00000453554:p.Asp166Val		191	0	0		143	0.3	43	NM_182562	0		0	B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.667261	0.29604	.	.	ENSG00000185087	ENST00000332908	T	0.53206	0.63	5.01	-3.58	0.04597	.	1.678910	0.03766	N	0.258934	T	0.25044	0.0608	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.10847	-1.0612	10	0.30078	T	0.28	.	5.4503	0.16560	0.0:0.3625:0.2941:0.3434	.	166	Q8N8A8	F169B_HUMAN	V	166	ENSP00000332615:D166V	ENSP00000332615:D166V	D	-	2	0	FAM169B	96800465	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.111000	0.10807	-1.075000	0.03129	0.529000	0.55759	GAT			0.542	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415488.1		NM_182562		A	98982942	T	A	98982942	3	1	20	1	0	0	0	0	1	0	0	0	5498	1435	50	5	85	5	FAM169B	15	98982942	Missense_Mutation	SNP	T	TCGA-2G-AAG5-01A-11D-A42Y-10	8794339	98982942	3548450	52	1302											
RAB11FIP3	9727	mdanderson.org	37	chr16	560707	560707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaggagctgagagcctGcgagatggtcctggaagaga	11	5	18	7	1	0	3	0	1	0	3	1	9	1	6	2	4	4	2	2	4	1	0	rs190687913		TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr16:560707G>T	ENST00000262305.4	+	9	1935	c.1547G>T	c.(1546-1548)tGc>tTc	p.C516F	RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.C220F|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.C561F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	516	ARF-binding domain (ABD).				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CTGAGAGCCTGCGAGATGGTC	0.597																																					p.C516F	Melanoma(160;2366 2595 4474 8099)												.	.			0			c.G1547T												74	65	68					16																	560707		2201	4297	6498	SO:0001583	missense	9727	exon9			GAGCCTGCGAGAT	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1547G>T	16.37:g.560707G>T	ENSP00000262305:p.Cys516Phe		40	0	0		43	0.07	3	NM_014700	64	0	0	B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998005	0.54147	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000448401	.	.	.	5.21	1.64	0.23874	.	.	.	.	.	T	0.24699	0.0599	N	0.22421	0.69	0.26183	N	0.979705	P;B;B	0.44090	0.826;0.091;0.315	B;B;B	0.43103	0.408;0.087;0.062	T	0.09930	-1.0652	8	0.56958	D	0.05	-2.0231	5.5428	0.17047	0.5282:0.0:0.4718:0.0	.	561;220;516	O75154-3;O75154-2;O75154	.;.;RFIP3_HUMAN	F	516;561;437;220;220	.	ENSP00000262305:C516F	C	+	2	0	RAB11FIP3	500708	1.000000	0.71417	0.113000	0.21522	0.920000	0.55202	4.915000	0.63355	0.669000	0.31146	0.655000	0.94253	TGC			0.597	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000109066.4		NM_014700		T	560707	G	T	560707	3	4	20	1	0	0	0	0	1	0	0	0	12918	1319	46	2	1600	2	RAB11FIP3	16	560707	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		560707	89794046	53	1303											
RHBDL1	9028	mdanderson.org	37	chr16	727545	727545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgtgctcggcacacctgGccaacgttgtcatggtaacg	7	9	11	14	3	1	0	1	0	0	0	2	0	1	0	3	3	3	4	3	3	2	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr16:727545G>T	ENST00000219551.2	+	5	997	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	RHBDL1_ENST00000352681.3_Missense_Mutation_p.A259S|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_5'Flank|STUB1_ENST00000219548.4_5'Flank|LA16c-313D11.9_ENST00000567091.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	324					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GGCACACCTGGCCAACGTTGT	0.677																																					p.A324S													.	.			0			c.G970T												26	28	27					16																	727545		2190	4295	6485	SO:0001583	missense	9028	exon5			CACCTGGCCAACG	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.970G>T	16.37:g.727545G>T	ENSP00000219551:p.Ala324Ser		21	0	0		13	0.15	2	NM_003961	2	0	0	A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300142	0.81136	.	.	ENSG00000103269	ENST00000352681;ENST00000450775;ENST00000219551	T;T	0.13538	2.58;2.58	4.31	4.31	0.51392	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.45285	1.41	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.998;0.992;0.972	T	0.02371	-1.1169	10	0.52906	T	0.07	-17.7129	15.3543	0.74415	0.0:0.0:1.0:0.0	.	259;324;259	B4DFK3;O75783;O75783-2	.;RHBL1_HUMAN;.	S	259;259;324	ENSP00000344206:A259S;ENSP00000219551:A324S	ENSP00000219551:A324S	A	+	1	0	RHBDL1	667546	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.129000	0.77225	1.958000	0.56883	0.561000	0.74099	GCC			0.677	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000241619.1		NM_003961		T	727545	G	T	727545	3	4	20	1	0	0	0	0	1	0	0	0	13344	1203	42	2	988	2	RHBDL1	16	727545	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	166838	727545	89627208	54	1304											
ZNF598	90850	mdanderson.org	37	chr16	2049697	2049697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctggcaggagcttccGgggcctgcaaagcccctggg	5	7	15	14	1	1	0	0	0	1	0	2	1	2	1	4	5	4	4	4	5	1	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr16:2049697G>A	ENST00000563630.1	-	9	1930	c.1688C>T	c.(1687-1689)cCg>cTg	p.P563L	ZNF598_ENST00000562103.1_Missense_Mutation_p.P563L|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.P618L			Q86UK7	ZN598_HUMAN	zinc finger protein 598	618							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AGGAGCTTCCGGGGCCTGCAA	0.652																																					p.P618L													.	.			0			c.C1853T												13	17	16					16																	2049697		1778	3971	5749	SO:0001583	missense	90850	exon11			GCTTCCGGGGCCT	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1688C>T	16.37:g.2049697G>A	ENSP00000455882:p.Pro563Leu		14	0	0		24	0.08	2	NM_178167	40	0.03	1	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	2.699	-0.271357	0.05716	.	.	ENSG00000167962	ENST00000431526	T	0.18338	2.22	4.17	2.15	0.27550	.	0.445621	0.25971	N	0.027130	T	0.11067	0.0270	L	0.28740	0.885	0.40930	D	0.984382	B	0.12630	0.006	B	0.08055	0.003	T	0.16041	-1.0416	10	0.25751	T	0.34	-0.99	9.0219	0.36204	0.2573:0.0:0.7427:0.0	.	618	Q86UK7	ZN598_HUMAN	L	618	ENSP00000411409:P618L	ENSP00000411409:P618L	P	-	2	0	ZNF598	1989698	0.300000	0.24435	0.074000	0.20217	0.055000	0.15305	0.881000	0.28173	0.406000	0.25560	0.650000	0.86243	CCG			0.652	ZNF598-001	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000434439.1		NM_178167		A	2049697	G	A	2049697	3	1	20	1	0	0	0	0	1	0	0	0	18051	1116	39	1	877	1	ZNF598	16	2049697	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	1322152	2049697	88305056	55	1305											
SRCAP	10847	hgsc.bcm.edu;bcgsc.ca	37	chr16	30735366	30735367	+	Frame_Shift_Ins	INS	-	-	T																															tccagggttgaactcaaccgINStggccccagcatgctcacct																								rs201407582	byFrequency	TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr16:30735366_30735367insT	ENST00000262518.4	+	25	5006_5007	c.4621_4622insT	c.(4621-4623)gtgfs	p.V1541fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.V1479fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.V1383fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1541	Pro-rich.				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)			GAACTCAACCGTGGCCCCAGCA	0.579																																					p.V1541fs													.	SRCAP	298		0			c.4621_4622insT																																									SO:0001589	frameshift_variant	10847	exon25			TCAACCGTGGCCC	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.4622dupT	16.37:g.30735367_30735367dupT	ENSP00000262518:p.Val1541fs		120	0	0		142	0.31	44	NM_006662	102	0	0	B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	CCDS10689.2																																																																																					0.579	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255523.1		NM_006662		T	30735367	-	T	30735366	7	5	20	1	0	1	1	0	0	0	0	0	15158	1145	40	0	4711	0	SRCAP	16	30735366	Frame_Shift_Ins	INS	-	TCGA-2G-AAG5-01A-11D-A42Y-10	28685669	30735366	59619387	56	1306											
C16orf78	123970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	49430428	49430428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagatcccatgttacaggaGggtacctttaacagccagag	12	10	10	9	0	0	2	0	0	0	2	1	3	1	3	3	2	4	2	3	2	4	5			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr16:49430428G>C	ENST00000299191.3	+	4	606	c.489G>C	c.(487-489)gaG>gaC	p.E163D		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	163						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGTTACAGGAGGGTACCTTTA	0.488																																					p.E163D													.	.			0			c.G489C												100	89	93					16																	49430428		2199	4300	6499	SO:0001583	missense	123970	exon4			ACAGGAGGGTACC	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.489G>C	16.37:g.49430428G>C	ENSP00000299191:p.Glu163Asp		136	0	0		191	0.24	45	NM_144602	0		0		Missense_Mutation	SNP	ENST00000299191.3	37	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.981487	0.00046	.	.	ENSG00000166152	ENST00000299191	T	0.48522	0.81	5.29	-10.6	0.00265	.	1.180330	0.06120	N	0.668755	T	0.17916	0.0430	N	0.05230	-0.09	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.58487	-0.7628	9	.	.	.	-15.9094	2.2374	0.04011	0.13:0.3721:0.261:0.2369	.	163	Q8WTQ4	CP078_HUMAN	D	163	ENSP00000299191:E163D	.	E	+	3	2	C16orf78	47987929	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.221000	0.00013	-8.479000	0.00000	-3.672000	0.00025	GAG			0.488	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256846.1		NM_144602		C	49430428	G	C	49430428	3	2	20	1	0	0	0	0	1	0	0	0	1837	991	35	5	503	5	C16orf78	16	49430428	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	18695062	49430428	40924325	57	1307											
TAF1C	9013	mdanderson.org	37	chr16	84212612	84212612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgggtgtgtgctgctGggagcgagtggcccggacgc	5	6	21	9	4	0	0	0	0	0	0	0	5	0	3	1	5	3	2	1	5	0	0			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr16:84212612G>T	ENST00000567759.1	-	14	2727	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	TAF1C_ENST00000566732.1_Missense_Mutation_p.Q823K|TAF1C_ENST00000378541.4_Missense_Mutation_p.Q849K|TAF1C_ENST00000341690.6_Missense_Mutation_p.Q755K|TAF1C_ENST00000570117.1_Missense_Mutation_p.Q517K|TAF1C_ENST00000541676.1_Missense_Mutation_p.Q756K	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	849					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GTGTGCTGCTGGGAGCGAGTG	0.657																																					p.Q849K													.	.			0			c.C2545A												62	62	62					16																	84212612		2200	4300	6500	SO:0001583	missense	9013	exon14			GCTGCTGGGAGCG	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2545C>A	16.37:g.84212612G>T	ENSP00000455265:p.Gln849Lys		36	0	0		20	0.15	3	NM_005679	194	0	0	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	7.933	0.741185	0.15642	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.03889	3.86;3.77;3.77	4.62	-4.28	0.03732	.	1.111280	0.06983	N	0.820270	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B;B;B;B	0.22146	0.038;0.065;0.038;0.038	B;B;B;B	0.16289	0.013;0.015;0.013;0.013	T	0.47169	-0.9138	10	0.38643	T	0.18	-5.3181	6.263	0.20912	0.2067:0.0:0.4478:0.3455	.	823;372;849;755	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	K	849;756;755;372	ENSP00000367802:Q849K;ENSP00000437900:Q756K;ENSP00000345305:Q755K	ENSP00000345305:Q755K	Q	-	1	0	TAF1C	82770113	0.000000	0.05858	0.128000	0.21923	0.047000	0.14425	-0.033000	0.12246	-0.594000	0.05836	-0.768000	0.03414	CAG			0.657	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000433045.2		NM_139353		T	84212612	G	T	84212612	3	4	20	1	0	0	0	0	1	0	0	0	15544	1357	47	3	68	3	TAF1C	16	84212612	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	34782184	84212612	6142141	58	1308											
SAMD14	201191	broad.mit.edu;mdanderson.org	37	chr17	48190406	48190406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatgagagttgctgagccCcaggctctggggaggagtcc	7	8	16	10	0	2	2	1	2	1	1	3	5	3	4	3	4	2	3	3	4	0	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr17:48190406C>A	ENST00000330175.4	-	10	1422	c.1105G>T	c.(1105-1107)Ggg>Tgg	p.G369W	SAMD14_ENST00000503131.1_Missense_Mutation_p.G397W|SAMD14_ENST00000503734.1_5'Flank	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	369	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TTGCTGAGCCCCAGGCTCTGG	0.642																																					p.G397W													.	SAMD14	36		0			c.G1189T												40	37	38					17																	48190406		2203	4300	6503	SO:0001583	missense	201191	exon11			TGAGCCCCAGGCT		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.1105G>T	17.37:g.48190406C>A	ENSP00000329144:p.Gly369Trp		34	0	0		41	0.07	3	NM_174920	57	0	0	A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283091	0.80803	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	D;D;D	0.92249	-3.0;-3.0;-3.0	5.11	5.11	0.69529	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	D	0.97009	0.9023	M	0.93420	3.415	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97974	1.0345	10	0.87932	D	0	-24.3145	15.4389	0.75168	0.0:1.0:0.0:0.0	.	369;397	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	W	369;381;397	ENSP00000329144:G369W;ENSP00000285206:G381W;ENSP00000424474:G397W	ENSP00000285206:G381W	G	-	1	0	SAMD14	45545405	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.625000	0.67770	2.382000	0.81193	0.462000	0.41574	GGG			0.642	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366661.1		NM_174920		A	48190406	C	A	48190406	3	1	20	1	0	0	0	0	1	0	0	0	13842	623	22	3	152	3	SAMD14	17	48190406	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10		48190406	33004804	59	1309											
SALL3	27164	mdanderson.org	37	chr18	76753052	76753052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggggtccctgctgggtgCggcgcccggcctgccaagtc	2	6	16	17	4	0	0	0	0	0	0	2	0	1	0	5	5	3	1	5	5	1	0			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr18:76753052C>T	ENST00000537592.2	+	2	1061	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	SALL3_ENST00000575389.2_Missense_Mutation_p.A354V|SALL3_ENST00000536229.3_Missense_Mutation_p.A221V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	354					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)		CTGCTGGGTGCGGCGCCCGGC	0.751																																					p.A354V													SALL3,NS,carcinoma,-1,1	SALL3	-1	1	0			c.C1061T												8	10	9					18																	76753052		2140	4216	6356	SO:0001583	missense	27164	exon2			TGGGTGCGGCGCC	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.1061C>T	18.37:g.76753052C>T	ENSP00000441823:p.Ala354Val		16	0	0		12	0.17	2	NM_171999	0		0	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712415	0.48517	.	.	ENSG00000256463	ENST00000537592;ENST00000536229	T	0.09163	3.01	4.37	4.37	0.52481	.	0.274240	0.25671	N	0.029076	T	0.04227	0.0117	N	0.02916	-0.46	0.28697	N	0.904262	P	0.37158	0.585	B	0.25140	0.058	T	0.29274	-1.0017	10	0.20519	T	0.43	-6.7884	17.1219	0.86704	0.0:1.0:0.0:0.0	.	354	Q9BXA9	SALL3_HUMAN	V	354	ENSP00000441823:A354V	ENSP00000299466:A354V	A	+	2	0	SALL3	74854040	0.982000	0.34865	0.003000	0.11579	0.005000	0.04900	5.445000	0.66594	2.269000	0.75478	0.460000	0.39030	GCG			0.751	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256397.1		NM_171999		T	76753052	C	T	76753052	3	4	20	1	0	0	0	0	1	0	0	0	13835	768	27	1	1067	1	SALL3	18	76753052	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10		76753052	1324196	60	1310											
AZU1	566	hgsc.bcm.edu;broad.mit.edu	37	chr19	831856	831857	+	In_Frame_Ins	INS	-	-	CCGGGA																															tcgatggtgttctcaacaacINSccgggaccggggccagccta																								rs558823414		TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr19:831856_831857insCCGGGA	ENST00000233997.2	+	5	756_757	c.735_736insCCGGGA	c.(736-738)ccg>CCGGGAccg	p.246_246P>PGP		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	246					cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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)		TTCTCAACAACCCGGGACCGGG	0.708																																					p.N245delinsNPG													.	AZU1	31		0			c.735_736insCCGGGA																																									SO:0001652	inframe_insertion	566	exon5			CAACAACCCGGGA	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.736_741dupCCGGGA	19.37:g.831857_831862dupCCGGGA	Exception_encountered		156	0	0		125	0.3	38	NM_001700	2	0	0	P80014|Q52LG4|Q9UCM1|Q9UCT5	In_Frame_Ins	INS	ENST00000233997.2	37	CCDS12044.1																																																																																					0.708	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457472.2		NM_001700		CCGGGA	831857	-	CCGGGA	831856	7	5	20	1	0	1	1	0	0	0	0	0	1243	506	18	0	753	0	AZU1	19	831856	In_Frame_Ins	INS	-	TCGA-2G-AAG5-01A-11D-A42Y-10		831856	58297127	61	1311											
ASNA1	439	ucsc.edu;bcgsc.ca	37	chr19	12858375	12858375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagatgtgtgaggcccGtcacaagatccaggccaagt	11	7	12	11	1	1	3	1	1	0	2	2	3	2	3	3	2	1	1	3	2	3	0			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr19:12858375G>A	ENST00000591090.1	+	7	986	c.884G>A	c.(883-885)cGt>cAt	p.R295H	ASNA1_ENST00000357332.3_Missense_Mutation_p.R295H					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						TGTGAGGCCCGTCACAAGATC	0.552																																					p.R295H													.	ASNA1	23		0			c.G884A												63	53	56					19																	12858375		2203	4300	6503	SO:0001583	missense	439	exon6			AGGCCCGTCACAA	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.884G>A	19.37:g.12858375G>A	ENSP00000466379:p.Arg295His		117	0.0170940171	2		80	0.41	33	NM_004317	237	0.44	105		Missense_Mutation	SNP	ENST00000591090.1	37	CCDS32920.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138293	0.94560	.	.	ENSG00000198356	ENST00000357332	T	0.51325	0.71	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.77909	0.4201	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.84946	0.0868	10	0.87932	D	0	-34.6891	17.2701	0.87098	0.0:0.0:1.0:0.0	.	277;295	E7EVN0;O43681	.;ASNA_HUMAN	H	295	ENSP00000349887:R295H	ENSP00000349887:R295H	R	+	2	0	ASNA1	12719375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.111000	0.94308	2.363000	0.80096	0.655000	0.94253	CGT			0.552	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450921.1		NM_004317		A	12858375	G	A	12858375	3	1	20	1	0	0	0	0	1	0	0	0	1047	1145	40	1	906	1	ASNA1	19	12858375	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	12026519	12858375	46270608	62	1312											
CPAMD8	9002	mdanderson.org	37	chr19	17004138	17004138	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctcacaggaggccgaggCccggctgtgaccctggagat	7	6	15	13	2	1	2	1	1	0	1	1	5	1	3	3	5	1	2	3	5	0	0			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr19:17004138C>T	ENST00000248076.3	+	0	3473				CPAMD8_ENST00000443236.1_Silent_p.G1860G|CPAMD8_ENST00000597335.1_5'Flank	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3						blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGGCCGAGGCCCGGCTGTGA	0.632																																					p.G1860G													.	.			0			c.G5580A												10	11	11					19																	17004138		1877	4041	5918	SO:0001628	intergenic_variant	27151	exon42			CCGAGGCCCGGCT	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0			19.37:g.17004138C>T			24	0	0		26	0.12	3	NM_015692	1088	0	0	O76067|Q6DK42	Silent	SNP	ENST00000248076.3	37	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	1.478	-0.558052	0.03967	.	.	ENSG00000160111	ENST00000443236	.	.	.	1.81	-3.63	0.04529	.	.	.	.	.	T	0.23094	0.0558	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	T	0.21827	-1.0234	5	0.32370	T	0.25	.	3.8439	0.08926	0.1804:0.278:0.0:0.5416	.	.	.	.	D	1871	.	ENSP00000402505:G1871D	G	-	2	0	CPAMD8	16865138	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.398000	0.07259	-1.576000	0.01652	-0.701000	0.03672	GGC			0.632	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462875.1				T	17004138	C	T	17004138	1	4	20	0	1	0	0	0	0	0	0	0	3797	726	26	2		2	CPAMD8	19	17004138	IGR	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	4145763	17004138	42124845	63	1313											
RHPN2	85415	mdanderson.org	37	chr19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcagctccagccgcaCttgctcccgcacctttgagt	7	9	9	16	2	1	1	1	1	0	0	3	2	3	1	4	0	4	5	4	0	1	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr19:33517507C>T	ENST00000254260.3	-	3	252	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V73M(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	Esophageal squamous(110;0.137)					TCCAGCCGCACTTGCTCCCGC	0.552																																					p.V73M													RHPN2,face,carcinoma,0,2	RHPN2	0	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A												84	83	83					19																	33517507		2203	4300	6503	SO:0001583	missense	85415	exon3			GCCGCACTTGCTC	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.217G>A	19.37:g.33517507C>T	ENSP00000254260:p.Val73Met		27	0	0		11	0.27	3	NM_033103	24	0	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542997	0.65198	.	.	ENSG00000131941	ENST00000254260	T	0.39787	1.06	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71984	-0.4427	10	0.87932	D	0	11.9954	16.025	0.80536	0.0:1.0:0.0:0.0	.	73	Q8IUC4	RHPN2_HUMAN	M	73	ENSP00000254260:V73M	ENSP00000254260:V73M	V	-	1	0	RHPN2	38209347	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.267000	0.78462	2.167000	0.68274	0.557000	0.71058	GTG			0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450828.2		NM_033103		T	33517507	C	T	33517507	3	4	20	1	0	0	0	0	1	0	0	0	13374	565	20	3	1895	3	RHPN2	19	33517507	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	16513369	33517507	25611476	64	1314											
PAF1	55588	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	39880019	39880019	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaccttcgcgtgctgctGggatctggggtgggaaatca	7	9	14	11	2	2	0	1	0	1	0	3	2	2	2	2	4	2	2	2	4	1	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr19:39880019G>A	ENST00000599213.2	+	0	0				MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000595564.1_Nonsense_Mutation_p.Q112*|PAF1_ENST00000221265.3_Nonsense_Mutation_p.Q122*|PAF1_ENST00000221266.7_Nonsense_Mutation_p.Q112*|MED29_ENST00000315588.5_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCGTGCTGCTGGGATCTGGGG	0.552																																					p.Q122X													.	.			0			c.C364T												81	76	77					19																	39880019		2203	4300	6503	SO:0001631	upstream_gene_variant	54623	exon6			GCTGCTGGGATCT	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880019G>A	Exception_encountered		128	0	0		80	0.38	30	NM_019088	136	0.04	5	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Nonsense_Mutation	SNP	ENST00000599213.2	37		.	.	.	.	.	.	.	.	.	.	g	37	6.312925	0.97467	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.6196	16.2011	0.82078	0.0:0.0:1.0:0.0	.	.	.	.	X	122;112;69	.	ENSP00000221265:Q122X	Q	-	1	0	PAF1	44571859	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	8.914000	0.92735	2.764000	0.94973	0.558000	0.71614	CAG			0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000470870.1		XM_290829		A	39880019	G	A	39880019	1	1	20	0	1	0	0	0	0	0	0	0	11400	1357	47	3		3	PAF1	19	39880019	5'Flank	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	6362512	39880019	19248964	65	1315											
NKPD1	284353	bcgsc.ca	37	chr19	45655550	45655550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagagctcggggtcgccGtccaggtcgagcacgttctg	6	8	15	12	6	1	1	0	0	1	1	6	3	2	1	2	3	2	3	2	3	1	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr19:45655550G>T	ENST00000438936.2	-	3	1690	c.1479C>A	c.(1477-1479)gaC>gaA	p.D493E	NKPD1_ENST00000317951.4_Missense_Mutation_p.D715E|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Missense_Mutation_p.D493E|NKPD1_ENST00000429338.1_Intron			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	493						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGGGGTCGCCGTCCAGGTCGA	0.697																																					p.D715E													.	NKPD1	46		0			c.C2145A												13	16	15					19																	45655550		2020	4150	6170	SO:0001583	missense	284353	exon4			GTCGCCGTCCAGG	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1479C>A	19.37:g.45655550G>T	ENSP00000401739:p.Asp493Glu		79	0	0		67	0.06	4	NM_198478	0		0	B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37		.	.	.	.	.	.	.	.	.	.	G	18.51	3.639882	0.67244	.	.	ENSG00000179846	ENST00000317951;ENST00000438936	D;D	0.84730	-1.59;-1.89	5.43	-0.436	0.12275	.	0.000000	0.42172	U	0.000750	D	0.87406	0.6169	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83131	-0.0113	10	0.87932	D	0	-9.2461	4.2559	0.10717	0.4263:0.0:0.4205:0.1533	.	493	Q17RQ9	NKPD1_HUMAN	E	715;493	ENSP00000321976:D715E;ENSP00000401739:D493E	ENSP00000321976:D715E	D	-	3	2	NKPD1	50347390	0.987000	0.35691	0.987000	0.45799	0.980000	0.70556	0.109000	0.15417	-0.212000	0.10109	0.561000	0.74099	GAC			0.697	NKPD1-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000360950.2		NM_198478		T	45655550	G	T	45655550	3	4	20	1	0	0	0	0	1	0	0	0	10463	1136	40	1	357	1	NKPD1	19	45655550	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	5775531	45655550	13473433	66	1316											
CCDC155	147872	mdanderson.org	37	chr19	49912498	49912498	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtgggctggaccgagctGctacccccatcgctgggctt	6	8	14	13	2	0	1	0	0	0	1	1	3	0	2	3	3	3	5	3	3	1	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr19:49912498G>T	ENST00000447857.3	+	14	1309	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	368						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L368L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGACCGAGCTGCTACCCCCAT	0.612																																					p.L368L													CCDC155,rectum,carcinoma,0,1	CCDC155	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G1104T												54	59	57					19																	49912498		2008	4175	6183	SO:0001819	synonymous_variant	147872	exon14			CGAGCTGCTACCC		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.1104G>T	19.37:g.49912498G>T			65	0	0		50	0.06	3	NM_144688	0		0	Q96MC3	Silent	SNP	ENST00000447857.3	37	CCDS46140.1																																																																																					0.612	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465436.2		NM_144688		T	49912498	G	T	49912498	2	4	20	1	0	0	0	0	0	0	0	1	2790	1306	46	2		2	CCDC155	19	49912498	Silent	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	4256948	49912498	9216485	67	1317											
PRIC285	85441	mdanderson.org	37	chr20	62195952	62195952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctggcagaggctggccGgcagcatgggcactggctcc	5	6	16	14	2	0	1	0	0	0	1	2	1	2	1	3	6	1	6	3	6	0	0	rs370784417	byFrequency	TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr20:62195952G>T	ENST00000467148.1	-	8	4292	c.4223C>A	c.(4222-4224)cCg>cAg	p.P1408Q	HELZ2_ENST00000427522.2_Missense_Mutation_p.P839Q	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1408					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)										GAGGCTGGCCGGCAGCATGGG	0.701																																					p.P1408Q													.	.			0			c.C4223A												7	6	6					20																	62195952		2093	4166	6259	SO:0001583	missense	85441	exon9			CTGGCCGGCAGCA	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.4223C>A	20.37:g.62195952G>T	ENSP00000417401:p.Pro1408Gln		38	0	0		32	0.09	3	NM_001037335	10	0	0	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557314	0.45590	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.72942	-0.7;-0.7	4.84	3.88	0.44766	Ribonuclease II/R (2);	0.116871	0.64402	D	0.000017	D	0.89733	0.6800	H	0.98048	4.135	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93280	0.6659	10	0.87932	D	0	-22.1615	15.0711	0.72037	0.0:0.1427:0.8572:0.0	.	1408;839	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	Q	839;1408	ENSP00000393257:P839Q;ENSP00000417401:P1408Q	ENSP00000393257:P839Q	P	-	2	0	RP4-697K14.7	61666396	1.000000	0.71417	0.418000	0.26571	0.003000	0.03518	7.482000	0.81143	1.029000	0.39812	0.491000	0.48974	CCG			0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354127.1		NM_001037335		T	62195952	G	T	62195952	3	4	20	1	0	0	0	0	1	0	0	0	12505	1116	39	1	3774	1	PRIC285	20	62195952	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		62195952	829568	68	1318											
BTG3	10950	mdanderson.org	37	chr21	18981446	18981446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaagaagacaacggcaGcaatttcattcttcattttt	15	13	6	7	1	3	3	2	1	1	2	3	3	3	3	0	1	2	2	0	1	5	5			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr21:18981446G>T	ENST00000348354.6	-	2	273	c.17C>A	c.(16-18)gCt>gAt	p.A6D	BTG3_ENST00000339775.6_Missense_Mutation_p.A6D|BTG3_ENST00000464058.1_5'UTR	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	6					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		GACAACGGCAGCAATTTCATT	0.338																																					p.A6D													.	.			0			c.C17A												68	69	69					21																	18981446		2203	4300	6503	SO:0001583	missense	10950	exon2			ACGGCAGCAATTT	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.17C>A	21.37:g.18981446G>T	ENSP00000284879:p.Ala6Asp		97	0	0		111	0.05	5	NM_006806	67	0	0	D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066351	0.76187	.	.	ENSG00000154640	ENST00000339775;ENST00000348354;ENST00000457956	.	.	.	4.45	3.57	0.40892	Anti-proliferative protein (3);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.64567	1.98	0.44241	D	0.997088	D;D	0.62365	0.991;0.979	P;P	0.61592	0.891;0.826	T	0.68164	-0.5481	9	0.46703	T	0.11	-17.4629	10.9914	0.47551	0.0921:0.0:0.9079:0.0	.	6;6	Q14201-2;Q14201	.;BTG3_HUMAN	D	6	.	ENSP00000344609:A6D	A	-	2	0	BTG3	17903317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.277000	0.89896	1.465000	0.48006	0.650000	0.86243	GCT			0.338	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000158196.1		NM_006806		T	18981446	G	T	18981446	3	4	20	1	0	0	0	0	1	0	0	0	1557	971	34	2	893	2	BTG3	21	18981446	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10		18981446	29148449	69	1319											
KRTAP10-9	386676	mdanderson.org	37	chr21	46047200	46047200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgccaccagctgctgcGccccggccccctgcctgacc	3	5	11	22	3	0	1	0	1	0	0	0	1	0	1	8	1	5	3	8	1	0	0	rs201090014		TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chr21:46047200G>A	ENST00000397911.3	+	1	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	38	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGCTGCTGCGCCCCGGCCCC	0.687																																					p.A38T													.	.			0			c.G112A							G	,THR/ALA	0,4352		0,0,2176	33	43	40		,112	-3.5	0.2	21		40	3,8535		0,3,4266	no	intron,missense	TSPEAR,KRTAP10-9	NM_144991.2,NM_198690.2	,58	0,3,6442	AA,AG,GG		0.0351,0.0,0.0233	,benign	,38/293	46047200	3,12887	2176	4269	6445	SO:0001583	missense	386676	exon1			TGCTGCGCCCCGG	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.112G>A	21.37:g.46047200G>A	ENSP00000381009:p.Ala38Thr		29	0	0		43	0.07	3	NM_198690	0		0	A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	0.280	-0.986763	0.02180	0.0	3.51E-4	ENSG00000221837	ENST00000397911	T	0.04654	3.58	3.63	-3.45	0.04781	.	.	.	.	.	T	0.03263	0.0095	L	0.49455	1.56	0.09310	N	1	B	0.28178	0.202	B	0.17433	0.018	T	0.47071	-0.9145	9	0.14252	T	0.57	.	1.361	0.02191	0.439:0.1847:0.2407:0.1355	.	38	P60411	KR109_HUMAN	T	38	ENSP00000381009:A38T	ENSP00000381009:A38T	A	+	1	0	KRTAP10-9	44871628	0.000000	0.05858	0.181000	0.23098	0.005000	0.04900	-0.912000	0.04046	-0.422000	0.07405	-0.768000	0.03414	GCC			0.687	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128040.1				A	46047200	G	A	46047200	3	1	20	1	0	0	0	0	1	0	0	0	8531	1087	38	1	114	1	KRTAP10-9	21	46047200	Missense_Mutation	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	27065754	46047200	2082695	70	1320											
CSF2RA	1438	broad.mit.edu	37	chrX	1422911	1422911	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcggcttcctctttaaaAggtaacctgtgaaacacctg	10	12	7	12	1	1	1	0	1	1	0	4	1	3	1	4	2	2	2	4	2	4	4			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chrX:1422911A>G	ENST00000381524.3	+	11	1228	c.1042A>G	c.(1042-1044)Agg>Ggg	p.R348G	CSF2RA_ENST00000432318.2_Splice_Site_p.R348G|CSF2RA_ENST00000381509.3_Splice_Site_p.R348G|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000417535.2_Splice_Site_p.R382G|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381529.3_Splice_Site_p.R348G|CSF2RA_ENST00000501036.2_Splice_Site_p.R215G|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	348					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)	CCTCTTTAAAAGGTAACCTGT	0.527																																					p.R382G	Esophageal Squamous(131;723 1707 25334 40494 41806)												.	CSF2RA	153		0			c.A1144G												306	281	290					X																	1422911		2203	4296	6499	SO:0001630	splice_region_variant	0	exon10			TTTAAAAGGTAAC	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.1043+1A>G	X.37:g.1422911A>G			680	0	0		521	0.01	6	NM_001161530	23	0	0	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Splice_Site	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.420514	0.25639	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000417535	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	0.806	0.806	0.18708	.	0.350616	0.20762	U	0.086146	T	0.45677	0.1354	.	.	.	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	T	0.32561	-0.9902	9	0.16896	T	0.51	.	3.8235	0.08845	1.0:0.0:0.0:0.0	.	348;382;348	P15509-2;A7J003;P15509	.;.;CSF2R_HUMAN	G	348;348;215;348;348;382	ENSP00000370940:R348G;ENSP00000416437:R348G;ENSP00000440491:R215G;ENSP00000370935:R348G;ENSP00000370920:R348G;ENSP00000394227:R382G	ENSP00000370920:R348G	R	+	1	2	CSF2RA	1382911	0.746000	0.28272	0.037000	0.18230	0.125000	0.20455	1.194000	0.32174	0.608000	0.30000	0.084000	0.15446	AGG			0.527	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000035013.2			Missense_Mutation	G	1422911	A	G	1422911	5	3	20	1	0	0	0	0	0	0	1	0	3936	86	3	4	1182	4	CSF2RA	23	1422911	Splice_Site	SNP	A	TCGA-2G-AAG5-01A-11D-A42Y-10		1422911	153847649	71	1321											
MXRA5	25878	broad.mit.edu	37	chrX	3229354	3229354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacgacatagcgcttggtgCgtccaccgctgtcatccgac	8	8	11	14	5	1	1	1	0	0	1	3	3	3	1	3	1	2	2	3	1	1	2			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chrX:3229354C>T	ENST00000217939.6	-	7	7044	c.6890G>A	c.(6889-6891)cGc>cAc	p.R2297H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2297	Ig-like C2-type 7.					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)				GCGCTTGGTGCGTCCACCGCT	0.557																																					p.R2297H													.	MXRA5	815		0			c.G6890A												143	108	120					X																	3229354		2203	4300	6503	SO:0001583	missense	25878	exon7			TTGGTGCGTCCAC	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.6890G>A	X.37:g.3229354C>T	ENSP00000217939:p.Arg2297His		62	0	0		48	0.06	3	NM_015419	432	0	0	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185191	0.38609	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.27720	1.65	4.28	4.28	0.50868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208446	0.23748	U	0.044956	T	0.53786	0.1818	M	0.67569	2.06	0.24457	N	0.994451	D	0.89917	1.0	D	0.87578	0.998	T	0.49771	-0.8904	10	0.45353	T	0.12	.	16.3313	0.83015	0.0:1.0:0.0:0.0	.	2297	Q9NR99	MXRA5_HUMAN	H	2297	ENSP00000217939:R2297H	ENSP00000217939:R2297H	R	-	2	0	MXRA5	3239354	1.000000	0.71417	0.012000	0.15200	0.038000	0.13279	6.625000	0.74248	1.760000	0.52011	0.509000	0.49947	CGC			0.557	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055655.2		NM_015419		T	3229354	C	T	3229354	3	4	20	1	0	0	0	0	1	0	0	0	10019	768	27	1	1600	1	MXRA5	23	3229354	Missense_Mutation	SNP	C	TCGA-2G-AAG5-01A-11D-A42Y-10	1806443	3229354	152041206	72	1322											
G6PD	2539	hgsc.bcm.edu	37	chrX	153764200	153764200	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtcagccactgtgaggcgGgaacgggcatagcccacgat	10	6	14	11	3	1	1	1	1	0	0	1	3	1	2	2	3	3	1	2	3	2	1			TCGA-2G-AAG5-01A-11D-A42Y-10	TCGA-2G-AAG5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27065dd-9387-4607-90e4-352b020179ff	02827416-0bd6-4593-95a9-0a8b5ee9b4f6	g.chrX:153764200G>T	ENST00000393564.2	-	4	331	c.219C>A	c.(217-219)tcC>tcA	p.S73S	G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Silent_p.S73S|G6PD_ENST00000393562.2_Silent_p.S103S	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	73					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)					CTGTGAGGCGGGAACGGGCAT	0.632																																					p.S103S													.	.			0			c.C309A												73	50	58					X																	153764200		2203	4300	6503	SO:0001819	synonymous_variant	2539	exon4			GAGGCGGGAACGG	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.219C>A	X.37:g.153764200G>T			123	0	0		90	0.06	5	NM_000402	118	0	0	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	CCDS44023.1																																																																																					0.632	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061170.3		NM_000402		T	153764200	G	T	153764200	2	4	20	1	0	0	0	0	0	0	0	1	6159	1219	43	3		3	G6PD	23	153764200	Silent	SNP	G	TCGA-2G-AAG5-01A-11D-A42Y-10	150534846	153764200	1506360	73	1323											
MORN1	79906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	2252853	2252853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggctctggggtgcagCtgtgggcggcctgccagctg	2	8	19	12	2	1	0	0	0	1	0	1	0	1	0	2	6	4	4	2	6	0	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:2252853C>T	ENST00000378531.3	-	14	1636	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N		NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	488										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)		TGGGGTGCAGCTGTGGGCGGC	0.657																																					p.S488N													.	.			0			c.G1463A												15	21	19					1																	2252853		1913	3767	5680	SO:0001583	missense	79906	exon14			GTGCAGCTGTGGG	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.1463G>A	1.37:g.2252853C>T	ENSP00000367792:p.Ser488Asn		63	0	0		37	0.41	15	NM_024848	6	1	6	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	CCDS40.1	.	.	.	.	.	.	.	.	.	.	C	7.921	0.738577	0.15642	.	.	ENSG00000116151	ENST00000378531	T	0.49139	0.79	2.87	-5.52	0.02560	.	16.297900	0.00166	N	0.000000	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07520	-1.0768	10	0.17832	T	0.49	.	0.1401	0.00082	0.3016:0.2439:0.1505:0.3041	.	488	Q5T089	MORN1_HUMAN	N	488	ENSP00000367792:S488N	ENSP00000367792:S488N	S	-	2	0	MORN1	2242713	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.034000	0.03567	-1.315000	0.02297	0.561000	0.74099	AGC			0.657	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000004055.1		NM_024848		T	2252853	C	T	2252853	3	4	21	1	0	0	0	0	1	0	0	0	9724	797	28	2	34	2	MORN1	1	2252853	Missense_Mutation	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10		2252853	246997768	1	1324											
ECE1	1889	mdanderson.org	37	chr1	21585201	21585201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctggatcacgttgctGttggagttcttggaatcggc	6	13	12	10	2	3	0	2	0	1	0	4	3	3	3	1	4	1	4	1	4	1	4			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:21585201G>T	ENST00000374893.6	-	6	821	c.747C>A	c.(745-747)aaC>aaA	p.N249K	ECE1_ENST00000415912.2_Missense_Mutation_p.N233K|ECE1_ENST00000436918.2_Missense_Mutation_p.N249K|ECE1_ENST00000357071.4_Missense_Mutation_p.N237K|ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000264205.6_Missense_Mutation_p.N246K	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	249					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)		TCACGTTGCTGTTGGAGTTCT	0.582																																					p.N249K													.	.			0			c.C747A												157	125	136					1																	21585201		2203	4300	6503	SO:0001583	missense	1889	exon6			GTTGCTGTTGGAG	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.747C>A	1.37:g.21585201G>T	ENSP00000364028:p.Asn249Lys		111	0	0		105	0.05	5	NM_001397	71	0	0	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719768	0.68844	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.1	1.11	0.20524	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	L	0.55481	1.735	0.58432	D	0.999993	B;D;B;D;D	0.64830	0.118;0.969;0.259;0.986;0.994	B;P;B;P;D	0.63033	0.06;0.876;0.125;0.878;0.91	T	0.69018	-0.5256	10	0.59425	D	0.04	-38.2595	4.0817	0.09929	0.3283:0.0:0.5161:0.1555	.	249;233;249;237;246	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	K	233;237;249;249;246	ENSP00000405088:N233K;ENSP00000349581:N237K;ENSP00000364028:N249K;ENSP00000388439:N249K;ENSP00000264205:N246K	ENSP00000264205:N246K	N	-	3	2	ECE1	21457788	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.761000	0.47589	0.188000	0.20168	-0.282000	0.10007	AAC			0.582	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000007470.2		NM_001397		T	21585201	G	T	21585201	3	4	21	1	0	0	0	0	1	0	0	0	4894	1368	48	3	1621	3	ECE1	1	21585201	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	19332348	21585201	227665420	2	1325											
COL8A2	1296	broad.mit.edu;mdanderson.org	37	chr1	36565807	36565807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcaccagtagcagcaGcagcagcgaagacaggggtg	13	2	14	12	1	0	1	0	0	0	1	0	2	0	1	2	2	6	6	2	2	2	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:36565807G>T	ENST00000397799.1	-	3	261	c.37C>A	c.(37-39)Ctg>Atg	p.L13M	COL8A2_ENST00000481785.1_De_novo_Start_OutOfFrame|COL8A2_ENST00000303143.4_Missense_Mutation_p.L13M			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	13					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)				agtagcagcagcagcagcGAA	0.652											OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L13M													.	COL8A2	41		0			c.C37A												10	10	10					1																	36565807		2191	4280	6471	SO:0001583	missense	1296	exon1			GCAGCAGCAGCAG	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.37C>A	1.37:g.36565807G>T	ENSP00000380901:p.Leu13Met		50	0	0	863	51	0.06	3	NM_005202	6	0	0	Q5JV31|Q8TEJ5	Translation_Start_Site	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732714	0.30684	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000373172	D;D	0.92858	-3.12;-3.12	3.44	3.44	0.39384	.	0.775342	0.11728	N	0.535215	D	0.84156	0.5410	N	0.22421	0.69	0.80722	D	1	P	0.36959	0.575	B	0.28232	0.087	T	0.81848	-0.0744	10	0.37606	T	0.19	.	12.219	0.54423	0.0:0.0:1.0:0.0	.	13	P25067	CO8A2_HUMAN	M	13	ENSP00000305913:L13M;ENSP00000380901:L13M	ENSP00000305913:L13M	L	-	1	2	COL8A2	36338394	1.000000	0.71417	0.139000	0.22197	0.655000	0.38815	2.023000	0.41040	1.928000	0.55862	0.491000	0.48974	CTG			0.652	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313674.1		NM_005202		T	36565807	G	T	36565807	3	4	21	1	0	0	0	0	1	0	0	0	3708	962	34	2	2082	2	COL8A2	1	36565807	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	14980606	36565807	212684814	3	1326											
CSF1	1435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	110459933	110459933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagatccagtgtgctacCttaagaaggcatttctcctg	12	11	9	9	0	1	3	0	0	1	3	3	3	2	3	3	1	2	2	3	1	4	3			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:110459933C>T	ENST00000329608.6	+	4	635	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	CSF1_ENST00000369802.3_Missense_Mutation_p.L82F|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000344188.5_Missense_Mutation_p.L82F|CSF1_ENST00000369801.1_Missense_Mutation_p.L82F|CSF1_ENST00000420111.2_Missense_Mutation_p.L82F	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	82					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|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 cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGTGCTACCTTAAGAAGGC	0.532																																					p.L82F													.	.			0			c.C244T												187	176	180					1																	110459933		2203	4300	6503	SO:0001583	missense	1435	exon4			TGCTACCTTAAGA	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.244C>T	1.37:g.110459933C>T	ENSP00000327513:p.Leu82Phe		88	0	0		77	0.32	25	NM_172210	18	0.44	8	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296377	0.60086	.	.	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801	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	5.18	-0.213	0.13165	Four-helical cytokine-like, core (1);	0.409611	0.21442	N	0.074470	T	0.18341	0.0440	M	0.69823	2.125	0.30789	N	0.741129	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.987;0.985;0.981	T	0.03043	-1.1079	10	0.72032	D	0.01	.	4.3642	0.11216	0.4561:0.3715:0.0:0.1724	.	82;82;82	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	F	89;41;82;82;82;41;82;82;82	ENSP00000434527:L89F;ENSP00000431547:L41F;ENSP00000349854:L82F;ENSP00000342718:L82F;ENSP00000327513:L82F;ENSP00000433837:L41F;ENSP00000358817:L82F;ENSP00000407317:L82F;ENSP00000358816:L82F	ENSP00000327513:L82F	L	+	1	0	CSF1	110261456	1.000000	0.71417	0.779000	0.31741	0.867000	0.49689	0.856000	0.27818	-0.329000	0.08527	0.561000	0.74099	CTT			0.532	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032208.1		NM_000757		T	110459933	C	T	110459933	3	4	21	1	0	0	0	0	1	0	0	0	3933	681	24	3	258	3	CSF1	1	110459933	Missense_Mutation	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10	73894126	110459933	138790688	4	1327											
OVGP1	5016	bcgsc.ca	37	chr1	111957533	111957533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcacaggggtcacagaCtgatgacccacaggggtcag	11	6	13	11	0	3	4	3	3	0	1	3	4	3	4	1	4	0	0	1	4	0	0	rs112145355		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					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)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q													.	OVGP1	177		0			c.G1590A												59	57	58					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	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.1590G>A	1.37:g.111957533C>T			100	0.01	1		30	0.17	5	NM_002557	0		0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																					0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032461.1		NM_002557		T	111957533	C	T	111957533	2	4	21	1	0	0	0	0	0	0	0	1	11342	564	20	3		3	OVGP1	1	111957533	Silent	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10	1497600	111957533	137293088	5	1328											
CELF3	11189	hgsc.bcm.edu	37	chr1	151678722	151678722	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctttgctgctgctgctgTtgctgctgctgctgctgctg	0	17	12	12	0	1	0	0	0	1	0	2	0	1	0	0	0	10	11	0	0	0	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:151678722T>C	ENST00000290583.4	-	10	1897	c.1104A>G	c.(1102-1104)caA>caG	p.Q368Q	CELF3_ENST00000290585.4_Silent_p.Q318Q|CELF3_ENST00000392706.3_Silent_p.Q163Q|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	368	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgttgctgctgct	0.657																																					p.Q368Q													CELF3,caecum,carcinoma,0,1	CELF3	0	1	0			c.A1104G												19	20	20					1																	151678722		2200	4297	6497	SO:0001819	synonymous_variant	11189	exon10			CTGCTGTTGCTGC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1104A>G	1.37:g.151678722T>C			40	0.025	1		35	0.09	3	NM_007185	0		0	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	4.938	0.174339	0.09391	.	.	ENSG00000159409	ENST00000420342	.	.	.	3.25	1.39	0.22231	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	-0.0118	5.4728	0.16680	0.0:0.7409:0.0:0.2591	.	.	.	.	S	369	.	.	N	-	2	0	CELF3	149945346	0.076000	0.21285	1.000000	0.80357	0.644000	0.38419	-0.812000	0.04496	0.416000	0.25844	-0.389000	0.06534	AAC			0.657	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000036663.2		NM_007185		C	151678722	T	C	151678722	2	2	21	1	0	0	0	0	0	0	0	1	3219	1722	60	4		4	CELF3	1	151678722	Silent	SNP	T	TCGA-2G-AAG6-01A-11D-A42Y-10	39721189	151678722	97571899	6	1329											
RUSC1	23623	broad.mit.edu	37	chr1	155292770	155292770	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcccgccccggcccccAcccccgcctgtccctccccg	1	6	8	26	4	0	0	0	0	0	0	3	0	3	0	11	2	0	0	11	2	0	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:155292770A>C	ENST00000368352.5	+	2	1357	c.1206A>C	c.(1204-1206)ccA>ccC	p.P402P	RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368354.3_Silent_p.P402P|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	402					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCGGCCCCCACCCCCGCCTG	0.726																																					p.P402P													.	RUSC1	85		0			c.A1206C																																									SO:0001819	synonymous_variant	23623	exon2			GCCCCCACCCCCG	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1206A>C	1.37:g.155292770A>C			24	0.3333333333	8		60	0.4	24	NM_001105204	1	0	0	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																					0.726	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039071.1				C	155292770	A	C	155292770	2	2	21	1	0	0	0	0	0	0	0	1	13773	146	6	4		4	RUSC1	1	155292770	Silent	SNP	A	TCGA-2G-AAG6-01A-11D-A42Y-10	3614048	155292770	93957851	7	1330											
METTL13	51603	broad.mit.edu	37	chr1	171761355	171761355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcctggactatatcgccaGcttggcaggaggaggagaag	10	7	16	8	1	0	1	0	0	0	1	1	5	0	4	2	6	1	2	2	6	3	3			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:171761355G>T	ENST00000361735.3	+	6	1939	c.1673G>T	c.(1672-1674)aGc>aTc	p.S558I	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Missense_Mutation_p.S472I|METTL13_ENST00000367737.5_Missense_Mutation_p.S402I|METTL13_ENST00000458517.1_Missense_Mutation_p.S557I	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	558							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TATATCGCCAGCTTGGCAGGA	0.542																																					p.S558I													.	METTL13	67		0			c.G1673T												120	105	110					1																	171761355		2203	4300	6503	SO:0001583	missense	51603	exon6			TCGCCAGCTTGGC	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1673G>T	1.37:g.171761355G>T	ENSP00000354920:p.Ser558Ile		99	0	0		161	0.02	4	NM_015935	51	0	0	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	7.945	0.743662	0.15642	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.77098	-0.26;-0.26;-0.26;-0.26;-1.07	5.38	1.93	0.25924	.	0.443608	0.29624	N	0.011630	T	0.63780	0.2540	L	0.55990	1.75	0.35518	D	0.801235	P;P;B	0.49783	0.539;0.928;0.364	B;P;B	0.48089	0.36;0.566;0.36	T	0.61332	-0.7084	10	0.36615	T	0.2	-25.0719	8.6413	0.33978	0.2022:0.1283:0.6695:0.0	.	557;402;558	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	I	557;472;402;558;258;255	ENSP00000401955:S557I;ENSP00000355393:S472I;ENSP00000356711:S402I;ENSP00000354920:S558I;ENSP00000356710:S258I	ENSP00000341732:S255I	S	+	2	0	METTL13	170027978	0.988000	0.35896	0.829000	0.32907	0.015000	0.08874	1.316000	0.33620	0.617000	0.30160	-0.150000	0.13652	AGC			0.542	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084528.5		NM_014955		T	171761355	G	T	171761355	3	4	21	1	0	0	0	0	1	0	0	0	9513	971	34	2	1695	2	METTL13	1	171761355	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	16468585	171761355	77489266	8	1331											
XPR1	9213	broad.mit.edu	37	chr1	180756959	180756959	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttccaaacctgtgaaaaAgaacttgccaaaatcaacac	17	10	4	10	0	1	2	1	1	0	1	2	2	2	2	3	0	4	0	3	0	7	3			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:180756959A>G	ENST00000367590.4	+	3	390	c.192A>G	c.(190-192)aaA>aaG	p.K64K	XPR1_ENST00000367589.3_Silent_p.K64K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	64	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						CCTGTGAAAAAGAACTTGCCA	0.323																																					p.K64K													.	XPR1	76		0			c.A192G												98	110	106					1																	180756959		2203	4299	6502	SO:0001819	synonymous_variant	9213	exon3			TGAAAAAGAACTT	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.192A>G	1.37:g.180756959A>G			381	0	0		540	0.01	5	NM_001135669	20	0	0	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	CCDS1340.1																																																																																					0.323	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084996.2		NM_004736		G	180756959	A	G	180756959	2	3	21	1	0	0	0	0	0	0	0	1	17475	69	3	4		4	XPR1	1	180756959	Silent	SNP	A	TCGA-2G-AAG6-01A-11D-A42Y-10	8995604	180756959	68493662	9	1332											
RGS7	6000	broad.mit.edu	37	chr1	240975327	240975327	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccatcgttttaccctctGctggctcggttctttgctat	4	16	7	14	2	2	0	0	0	2	0	4	0	2	0	3	2	3	5	3	2	2	5			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:240975327G>A	ENST00000407727.1	-	13	972	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	RGS7_ENST00000366563.1_Nonsense_Mutation_p.Q325*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.Q272*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.Q241*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.Q325*|RGS7_ENST00000366565.1_Nonsense_Mutation_p.Q325*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.Q299*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.Q325*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.Q272*			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	325					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTACCCTCTGCTGGCTCGGT	0.398																																					p.Q325X													RGS7_ENST00000366565,NS,carcinoma,0,2	RGS7	308	2	0			c.C973T												95	98	97					1																	240975327		2203	4300	6503	SO:0001587	stop_gained	6000	exon14			CCCTCTGCTGGCT	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.973C>T	1.37:g.240975327G>A	ENSP00000384428:p.Gln325*		96	0	0		137	0.03	4	NM_002924	5	0	0	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Nonsense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.237736	0.95240	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	.	.	.	5.8	5.8	0.92144	.	0.119003	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9368	19.0419	0.93004	0.0:0.0:1.0:0.0	.	.	.	.	X	299;325;325;325;156;272;241;325;325;272	.	ENSP00000331485:Q299X	Q	-	1	0	RGS7	239041950	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.695000	0.84257	2.758000	0.94735	0.561000	0.74099	CAG			0.398	RGS7-204	KNOWN	basic	protein_coding	protein_coding				NM_002924		A	240975327	G	A	240975327	4	1	21	1	0	0	0	0	0	1	0	0	13333	1328	46	2	510	2	RGS7	1	240975327	Nonsense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	60218368	240975327	8275294	10	1333											
ASAP2	8853	mdanderson.org	37	chr2	9533770	9533770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcccgcagaagaagcctgCgccggggtaagccaccccca	9	3	11	18	3	0	2	0	0	0	2	1	2	1	2	7	2	3	2	7	2	3	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr2:9533770C>T	ENST00000281419.3	+	24	3018	c.2678C>T	c.(2677-2679)gCg>gTg	p.A893V	ASAP2_ENST00000315273.4_Missense_Mutation_p.A848V|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	893	Pro-rich.				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						AAGAAGCCTGCGCCGGGGTAA	0.687																																					p.A893V													.	.			0			c.C2678T												6	7	7					2																	9533770		2148	4199	6347	SO:0001583	missense	8853	exon24			AGCCTGCGCCGGG	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.2678C>T	2.37:g.9533770C>T	ENSP00000281419:p.Ala893Val		20	0	0		30	0.1	3	NM_003887	41	0	0	D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	8.244	0.807409	0.16467	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.58797	0.37;0.31	5.25	4.37	0.52481	Src homology-3 domain (1);	2.307350	0.02002	N	0.046399	T	0.49490	0.1560	L	0.34521	1.04	0.21105	N	0.99978	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.29181	-1.0020	10	0.27082	T	0.32	.	7.6686	0.28445	0.0:0.7231:0.1642:0.1127	.	848;893	O43150-2;O43150	.;ASAP2_HUMAN	V	893;848	ENSP00000281419:A893V;ENSP00000316404:A848V	ENSP00000281419:A893V	A	+	2	0	ASAP2	9451221	0.000000	0.05858	0.370000	0.25965	0.577000	0.36160	0.468000	0.22051	1.204000	0.43247	-0.257000	0.10917	GCG			0.687	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000237522.1		NM_003887		T	9533770	C	T	9533770	3	4	21	1	0	0	0	0	1	0	0	0	1011	768	27	1	2772	1	ASAP2	2	9533770	Missense_Mutation	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10		9533770	233665603	11	1334											
SMPD4	55627	broad.mit.edu	37	chr2	130913640	130913640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacaccggggctgggagtcGctgcccggagcctgcttgtc	5	7	15	14	3	0	0	0	0	0	0	2	2	0	2	3	4	3	3	3	4	0	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr2:130913640G>A	ENST00000409031.1	-	14	2522	c.1374C>T	c.(1372-1374)agC>agT	p.S458S	SMPD4_ENST00000351288.6_Silent_p.S429S|SMPD4_ENST00000426662.2_Silent_p.S94S|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000453750.1_Silent_p.S207S|SMPD4_ENST00000452225.2_Silent_p.S199S|SMPD4_ENST00000443958.2_Silent_p.S122S|SMPD4_ENST00000339679.7_Silent_p.S316S|SMPD4_ENST00000431183.2_Silent_p.S356S	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	419					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCTGGGAGTCGCTGCCCGGAG	0.637																																					p.S458S													.	SMPD4	67		0			c.C1374T												33	35	35					2																	130913640		2203	4299	6502	SO:0001819	synonymous_variant	55627	exon14			GGAGTCGCTGCCC	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1374C>T	2.37:g.130913640G>A			125	0	0		176	0.02	4	NM_017951	93	0	0	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.747|5.747	0.322312|0.322312	0.10900|0.10900	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886|ENST00000430682	.|.	.|.	.|.	3.8|3.8	-7.59|-7.59	0.01308|0.01308	.|.	.|.	.|.	.|.	.|.	T|.	0.17874|.	0.0429|.	.|.	.|.	.|.	0.26417|0.26417	N|N	0.976162|0.976162	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27706|.	-1.0066|.	4|.	.|.	.|.	.|.	.|.	4.0144|4.0144	0.09637|0.09637	0.3124:0.1127:0.463:0.1119|0.3124:0.1127:0.463:0.1119	.|.	.|.	.|.	.|.	V|X	333|140	.|.	.|.	A|R	-|-	2|1	0|2	SMPD4|SMPD4	130630110|130630110	0.000000|0.000000	0.05858|0.05858	0.209000|0.209000	0.23619|0.23619	0.560000|0.560000	0.35617|0.35617	-2.077000|-2.077000	0.01371|0.01371	-1.042000|-1.042000	0.03262|0.03262	-0.401000|-0.401000	0.06369|0.06369	GCG|CGA			0.637	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254516.3		NM_017751		A	130913640	G	A	130913640	2	1	21	1	0	0	0	0	0	0	0	1	14830	1078	38	1		1	SMPD4	2	130913640	Silent	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	121379870	130913640	112285733	12	1335											
DGKD	8527	broad.mit.edu	37	chr2	234368884	234368884	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagacaagcagaagtgCgagctgccccgccctccatc	10	5	12	14	2	0	2	0	0	0	2	2	4	1	3	4	1	4	2	4	1	3	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr2:234368884C>A	ENST00000264057.2	+	24	2886	c.2874C>A	c.(2872-2874)tgC>tgA	p.C958*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.C914*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	958					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		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;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGCAGAAGTGCGAGCTGCCCC	0.602																																					p.C958X													.	DGKD	106		0			c.C2874A												101	94	97					2																	234368884		2203	4300	6503	SO:0001587	stop_gained	8527	exon24			GAAGTGCGAGCTG	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2874C>A	2.37:g.234368884C>A	ENSP00000264057:p.Cys958*		233	0	0		257	0.02	4	NM_152879	29	0	0	Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990939	0.74703	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.93	-9.85	0.00476	.	0.310805	0.31542	N	0.007480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6058	0.56523	0.0:0.5189:0.1503:0.3308	.	.	.	.	X	958;914	.	ENSP00000264057:C958X	C	+	3	2	DGKD	234033623	0.022000	0.18835	0.322000	0.25334	0.373000	0.29922	-0.983000	0.03759	-2.698000	0.00400	-1.119000	0.02030	TGC			0.602	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257072.2		NM_003648		A	234368884	C	A	234368884	4	1	21	1	0	0	0	0	0	1	0	0	4472	776	27	1	2992	1	DGKD	2	234368884	Nonsense_Mutation	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10	103455244	234368884	8830489	13	1336											
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	52668670	52668671	+	Frame_Shift_Ins	INS	-	-	T																															tgctggtaataatcagggtaINSttttttctttgaaggcaaat																										TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr3:52668670_52668671insT	ENST00000296302.7	-	11	1249_1250	c.1248_1249insA	c.(1246-1251)aaatacfs	p.Y417fs	PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Y385fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Y417fs			Q86U86	PB1_HUMAN	polybromo 1	417	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAATCAGGGTATTTTTTCTTTG	0.347			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																p.Y417fs				Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1	1252		0			c.1249_1250insA																																									SO:0001589	frameshift_variant	55193	exon12			CAGGGTATTTTTT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1249dupA	3.37:g.52668676_52668676dupT	ENSP00000296302:p.Tyr417fs		129	0	0		141	0.32	45	NM_018313	20	0	0	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																						0.347	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000327232.1		NM_018165		T	52668671	-	T	52668670	7	5	21	1	0	1	1	0	0	0	0	0	11508	449	16	0	3731	0	PBRM1	3	52668670	Frame_Shift_Ins	INS	-	TCGA-2G-AAG6-01A-11D-A42Y-10		52668670	145353760	14	1337											
CARD6	84674	broad.mit.edu	37	chr5	40841684	40841684	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaattttggtacagaaaaAgggagaggcgacctgtcagc	13	9	13	6	1	1	2	1	0	0	2	1	4	1	2	1	3	2	2	1	3	4	4			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr5:40841684A>G	ENST00000254691.5	+	1	399	c.200A>G	c.(199-201)aAg>aGg	p.K67R	CARD6_ENST00000381677.3_Missense_Mutation_p.K67R	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	67	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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						GTACAGAAAAAGGGAGAGGCG	0.423																																					p.K67R													.	CARD6	141		0			c.A200G												115	120	119					5																	40841684		2203	4300	6503	SO:0001583	missense	84674	exon1			AGAAAAAGGGAGA	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.200A>G	5.37:g.40841684A>G	ENSP00000254691:p.Lys67Arg		140	0.0071428571	1		114	0.03	3	NM_032587	3	0	0	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773080	0.69992	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.51071	0.72;0.72	4.88	4.88	0.63580	DEATH-like (2);Caspase Recruitment (3);	0.097855	0.44688	D	0.000422	T	0.64461	0.2600	M	0.68952	2.095	0.28923	N	0.892005	D	0.89917	1.0	D	0.97110	1.0	T	0.62586	-0.6823	10	0.87932	D	0	-15.0983	10.7802	0.46374	1.0:0.0:0.0:0.0	.	67	Q9BX69	CARD6_HUMAN	R	67	ENSP00000254691:K67R;ENSP00000371093:K67R	ENSP00000254691:K67R	K	+	2	0	CARD6	40877441	0.994000	0.37717	0.850000	0.33497	0.604000	0.37047	2.133000	0.42093	2.045000	0.60652	0.460000	0.39030	AAG			0.423	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211584.3				G	40841684	A	G	40841684	3	3	21	1	0	0	0	0	1	0	0	0	2652	72	3	4	202	4	CARD6	5	40841684	Missense_Mutation	SNP	A	TCGA-2G-AAG6-01A-11D-A42Y-10		40841684	140073576	15	1338											
RREB1	6239	mdanderson.org	37	chr6	7231407	7231407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcctcagccctggtcagCagccctccactcgtgggcag	6	8	10	17	1	2	0	2	0	0	0	5	0	4	0	4	2	4	2	4	2	1	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr6:7231407C>T	ENST00000349384.6	+	10	3389	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	RREB1_ENST00000379933.3_Silent_p.S1025S|RREB1_ENST00000379938.2_Silent_p.S1025S|RREB1_ENST00000334984.6_Silent_p.S1025S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1025	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)				CCCTGGTCAGCAGCCCTCCAC	0.697																																					p.S1025S													.	.			0			c.C3075T												26	30	28					6																	7231407		2202	4285	6487	SO:0001819	synonymous_variant	6239	exon10			GGTCAGCAGCCCT	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.3075C>T	6.37:g.7231407C>T			39	0	0		51	0.06	3	NM_001003700	12	0	0	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																					0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000352985.1				T	7231407	C	T	7231407	2	4	21	1	0	0	0	0	0	0	0	1	13702	709	25	2		2	RREB1	6	7231407	Silent	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10		7231407	163883660	16	1339											
VARS2	57176	hgsc.bcm.edu;broad.mit.edu	37	chr6	30893760	30893760	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaccccatcagaaggggAggcagggactcagaggcaac	13	2	15	11	0	2	2	2	0	0	2	2	5	2	5	2	6	1	2	2	6	2	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr6:30893760A>G	ENST00000321897.5	+	28	3697	c.3065A>G	c.(3064-3066)gAg>gGg	p.E1022G	VARS2_ENST00000541562.1_Missense_Mutation_p.E1052G|VARS2_ENST00000542001.1_Missense_Mutation_p.E882G|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.E1022G			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	1022					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCAGAAGGGGAGGCAGGGACT	0.612																																					p.E1052G													.	.			0			c.A3155G												63	62	62					6																	30893760		1509	2709	4218	SO:0001583	missense	57176	exon29			AAGGGGAGGCAGG	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.3065A>G	6.37:g.30893760A>G	ENSP00000316092:p.Glu1022Gly		135	0	0		152	0.05	7	NM_001167734	36	0	0	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458988	0.63401	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.8	0.0291	0.14161	.	0.756675	0.12207	N	0.489691	T	0.09202	0.0227	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.28933	0.228;0.019;0.034;0.02	B;B;B;B	0.27796	0.083;0.011;0.037;0.01	T	0.31280	-0.9949	10	0.16420	T	0.52	-3.6664	1.6521	0.02774	0.4927:0.1425:0.0878:0.277	.	460;1020;1052;1022	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	G	1022;1022;882;1052	ENSP00000316092:E1022G;ENSP00000394802:E1022G;ENSP00000438200:E882G;ENSP00000441000:E1052G	ENSP00000316092:E1022G	E	+	2	0	VARS2	31001739	0.000000	0.05858	0.118000	0.21660	0.973000	0.67179	-0.447000	0.06828	0.093000	0.17368	0.533000	0.62120	GAG			0.612	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076566.2		NM_020442		G	30893760	A	G	30893760	3	3	21	1	0	0	0	0	1	0	0	0	17148	304	11	4	3269	4	VARS2	6	30893760	Missense_Mutation	SNP	A	TCGA-2G-AAG6-01A-11D-A42Y-10	23662353	30893760	140221307	17	1340											
COL21A1	81578	broad.mit.edu	37	chr6	56035495	56035495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgtgagccattaattacGctggttgttgtaaataataa	13	15	8	5	1	0	1	0	1	0	0	0	1	0	1	1	1	2	4	1	1	6	8	rs41271846	byFrequency	TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr6:56035495G>T	ENST00000244728.5	-	5	1375	c.978C>A	c.(976-978)agC>agA	p.S326R	COL21A1_ENST00000370819.1_Missense_Mutation_p.S326R|COL21A1_ENST00000535941.1_Missense_Mutation_p.S326R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	326	Laminin G-like.				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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATTAATTACGCTGGTTGTTG	0.358																																					p.S326R													.	COL21A1	201		0			c.C978A												79	71	74					6																	56035495		1868	4104	5972	SO:0001583	missense	0	exon5			AATTACGCTGGTT	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.978C>A	6.37:g.56035495G>T	ENSP00000244728:p.Ser326Arg		180	0	0		228	0.02	4	NM_030820	13	0	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	7.577	0.667843	0.14710	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.13901	2.55;2.55;2.55	4.24	1.45	0.22620	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.188547	0.36268	N	0.002690	T	0.15782	0.0380	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.91635	0.999;0.737	T	0.01504	-1.1338	10	0.72032	D	0.01	.	8.6142	0.33822	0.3497:0.0:0.6503:0.0	.	326;326	Q96P44-3;Q96P44	.;COLA1_HUMAN	R	326	ENSP00000244728:S326R;ENSP00000359855:S326R;ENSP00000444384:S326R	ENSP00000244728:S326R	S	-	3	2	COL21A1	56143454	0.904000	0.30761	0.588000	0.28705	0.166000	0.22503	1.220000	0.32491	-0.021000	0.14009	0.591000	0.81541	AGC			0.358	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041004.2				T	56035495	G	T	56035495	3	4	21	1	0	0	0	0	1	0	0	0	3682	1078	38	1	1999	1	COL21A1	6	56035495	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	25141735	56035495	115079572	18	1341											
TXLNB	167838	broad.mit.edu	37	chr6	139583903	139583903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacgtgcccgctgaagcGcctcttcctgcggataaaaa	9	8	9	15	4	2	1	1	1	1	0	3	2	3	2	4	1	3	1	4	1	4	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr6:139583903G>T	ENST00000358430.3	-	5	927	c.695C>A	c.(694-696)gCg>gAg	p.A232E		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	232						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCGCTGAAGCGCCTCTTCCTG	0.478																																					p.A232E													.	TXLNB	96		0			c.C695A												122	97	106					6																	139583903		2203	4300	6503	SO:0001583	missense	167838	exon5			TGAAGCGCCTCTT		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.695C>A	6.37:g.139583903G>T	ENSP00000351206:p.Ala232Glu		142	0	0		179	0.03	6	NM_153235	6	0	0	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.036013	0.35893	.	.	ENSG00000164440	ENST00000358430	T	0.30981	1.51	5.75	5.75	0.90469	.	0.094170	0.64402	D	0.000001	T	0.13286	0.0322	N	0.19112	0.55	0.32445	N	0.546208	P	0.38195	0.622	B	0.38378	0.272	T	0.07328	-1.0778	9	.	.	.	-11.384	19.9334	0.97128	0.0:0.0:1.0:0.0	.	232	Q8N3L3	TXLNB_HUMAN	E	232	ENSP00000351206:A232E	.	A	-	2	0	TXLNB	139625596	0.892000	0.30473	0.999000	0.59377	0.363000	0.29612	1.515000	0.35845	2.712000	0.92718	0.655000	0.94253	GCG			0.478	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042458.1		NM_153235		T	139583903	G	T	139583903	3	4	21	1	0	0	0	0	1	0	0	0	16812	1087	38	1	1383	1	TXLNB	6	139583903	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	83548408	139583903	31531164	19	1342											
NEFL	4747	broad.mit.edu	37	chr8	24813554	24813554	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcgctcgccctggagcGcctgcttctcgttggtggca	2	11	13	15	5	1	0	0	0	1	0	4	1	1	1	2	3	2	4	2	3	0	3			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr8:24813554G>T	ENST00000221169.5	-	0	1070				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)	p.A159E(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|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)		GCCCTGGAGCGCCTGCTTCTC	0.701																																					p.A159E													NEFL,trunk,malignant_melanoma,0,1	NEFL	47	1	1	Substitution - Missense(1)	skin(1)	c.C476A												9	10	10					8																	24813554		1968	4130	6098			4747	exon1			TGGAGCGCCTGCT		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813554G>T			27	0.037037037	1		44	0.09	4	NM_006158	1	0	0	B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.701	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript		OTTHUMT00000258943.4		NM_006158		T	24813554	G	T	24813554	1	4	21	0	1	0	0	0	0	0	0	0	10332	1087	38	1		1	NEFL	8	24813554	RNA	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10		24813554	121550468	20	1343											
PENK	5179	broad.mit.edu	37	chr8	57358406	57358406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggccgggcgcactaggCggtagctgcacgtcgcgcaa	6	6	16	13	7	0	0	0	0	0	0	2	0	0	0	1	4	2	5	1	4	3	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr8:57358406C>A	ENST00000314922.3	-	1	183	c.107G>T	c.(106-108)cGc>cTc	p.R36L	PENK_ENST00000523274.1_5'Flank|PENK_ENST00000451791.2_Missense_Mutation_p.R36L|PENK_ENST00000518770.1_Missense_Mutation_p.R36L|PENK_ENST00000523051.1_Missense_Mutation_p.R36L|RP11-17A4.2_ENST00000518662.1_RNA	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	36					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)			GCGCACTAGGCGGTAGCTGCA	0.647																																					p.R36L													PENK,caecum,carcinoma,-1,1	PENK	59	1	0			c.G107T												56	56	56					8																	57358406		2203	4299	6502	SO:0001583	missense	5179	exon3			ACTAGGCGGTAGC		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.107G>T	8.37:g.57358406C>A	ENSP00000324248:p.Arg36Leu		120	0.0083333333	1		169	0.04	6	NM_001135690	15	0	0	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525686	0.64860	.	.	ENSG00000181195	ENST00000539312;ENST00000517415;ENST00000314922;ENST00000451791;ENST00000518974;ENST00000523051;ENST00000518770	T;T;T	0.75050	-0.9;-0.9;0.85	5.25	2.43	0.29744	.	0.285837	0.39909	N	0.001228	T	0.72985	0.3529	M	0.70595	2.14	0.41703	D	0.98941	P;B	0.46277	0.875;0.01	P;B	0.46825	0.528;0.033	T	0.67960	-0.5535	10	0.38643	T	0.18	-8.692	7.0761	0.25205	0.3059:0.6151:0.0:0.0791	.	36;36	E5RJ72;P01210	.;PENK_HUMAN	L	36;33;36;36;36;36;36	ENSP00000324248:R36L;ENSP00000400894:R36L;ENSP00000428012:R36L	ENSP00000324248:R36L	R	-	2	0	PENK	57520960	0.998000	0.40836	0.999000	0.59377	0.987000	0.75469	0.706000	0.25690	0.202000	0.20498	0.650000	0.86243	CGC			0.647	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378645.1				A	57358406	C	A	57358406	3	1	21	1	0	0	0	0	1	0	0	0	11744	768	27	1	704	1	PENK	8	57358406	Missense_Mutation	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10	32544852	57358406	89005616	21	1344											
NPR2	4882	mdanderson.org	37	chr9	35794017	35794017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttggggagagtctccgtGcaggccccacacgtgctaca	7	9	12	13	2	2	1	0	0	2	1	3	2	2	1	3	3	3	2	3	3	1	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:35794017G>T	ENST00000342694.2	+	2	1045	c.790G>T	c.(790-792)Gca>Tca	p.A264S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	264					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GAGTCTCCGTGCAGGCCCCAC	0.572																																					p.A264S													NPR2_ENST00000342694,right_upper_lobe,carcinoma,-2,2	NPR2_ENST00000342694	-2	2	0			c.G790T												72	73	72					9																	35794017		2203	4300	6503	SO:0001583	missense	4882	exon2			CTCCGTGCAGGCC	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.790G>T	9.37:g.35794017G>T	ENSP00000341083:p.Ala264Ser		59	0	0		49	0.06	3	NM_003995	17	0	0	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427546	0.43122	.	.	ENSG00000159899	ENST00000342694	T	0.73469	-0.75	4.11	4.11	0.48088	Extracellular ligand-binding receptor (1);	0.000000	0.40818	N	0.001002	T	0.44912	0.1316	N	0.01352	-0.895	0.37267	D	0.907242	B;B	0.17465	0.022;0.003	B;B	0.14023	0.01;0.006	T	0.50524	-0.8818	10	0.08599	T	0.76	.	15.8785	0.79185	0.0:0.0:1.0:0.0	.	264;264	P20594-2;P20594	.;ANPRB_HUMAN	S	264	ENSP00000341083:A264S	ENSP00000341083:A264S	A	+	1	0	NPR2	35784017	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	3.100000	0.50275	2.275000	0.75901	0.655000	0.94253	GCA			0.572	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052345.1				T	35794017	G	T	35794017	3	4	21	1	0	0	0	0	1	0	0	0	10612	1319	46	2	796	2	NPR2	9	35794017	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10		35794017	105419414	22	1345											
NANS	54187	mdanderson.org	37	chr9	100839290	100839290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttatctggaaaagacaGccaaaaaaggtaagtgtcta	16	10	8	7	0	2	1	0	0	2	1	3	2	3	2	2	2	1	1	2	2	8	4			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:100839290G>T	ENST00000210444.5	+	3	509	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	147					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)				GGAAAAGACAGCCAAAAAAGG	0.368																																					p.A147S													.	.			0			c.G439T												75	70	72					9																	100839290		2203	4300	6503	SO:0001583	missense	54187	exon3			AAGACAGCCAAAA	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.439G>T	9.37:g.100839290G>T	ENSP00000210444:p.Ala147Ser		42	0	0		45	0.07	3	NM_018946	86	0	0	B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029437	0.93518	.	.	ENSG00000095380	ENST00000210444	T	0.55052	0.54	5.71	5.71	0.89125	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.77486	2.375	0.80722	D	1	P	0.37663	0.604	B	0.42653	0.394	T	0.66520	-0.5903	10	0.72032	D	0.01	-14.8435	17.79	0.88550	0.0:0.0:1.0:0.0	.	147	Q9NR45	SIAS_HUMAN	S	147	ENSP00000210444:A147S	ENSP00000210444:A147S	A	+	1	0	NANS	99879111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.375000	0.97178	2.885000	0.99019	0.580000	0.79431	GCC			0.368	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053359.1		NM_018946		T	100839290	G	T	100839290	3	4	21	1	0	0	0	0	1	0	0	0	10171	971	34	2	449	2	NANS	9	100839290	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	65045273	100839290	40374141	23	1346											
AKNA	80709	mdanderson.org	37	chr9	117099491	117099491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcccaggtcgagctggAtggagtgccggtgtctccgg	4	8	18	11	4	1	0	0	0	1	0	4	3	1	2	3	6	2	1	3	6	0	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:117099491A>G	ENST00000307564.4	-	22	4324	c.4163T>C	c.(4162-4164)aTc>aCc	p.I1388T	AKNA_ENST00000374075.5_Missense_Mutation_p.I1307T|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.I848T|AKNA_ENST00000374079.4_Missense_Mutation_p.I333T|AKNA_ENST00000374088.3_Missense_Mutation_p.I1388T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1388					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						GTCGAGCTGGATGGAGTGCCG	0.667																																					p.I1388T													.	.			0			c.T4163C												44	46	45					9																	117099491		2203	4300	6503	SO:0001583	missense	80709	exon22			AGCTGGATGGAGT	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.4163T>C	9.37:g.117099491A>G	ENSP00000303769:p.Ile1388Thr		52	0	0		63	0.05	3	NM_030767	48	0.02	1	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.017|9.017	0.984007|0.984007	0.18889|0.18889	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075|ENST00000320310	T;T;T;T;T|.	0.20332|.	2.64;2.08;2.64;2.42;2.64|.	5.13|5.13	2.4|2.4	0.29515|0.29515	.|.	.|.	.|.	.|.	.|.	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;P|.	0.36535|.	0.421;0.557|.	B;B|.	0.30495|.	0.054;0.116|.	T|T	0.20874|0.20874	-1.0262|-1.0262	9|6	0.56958|0.87932	D|D	0.05|0	10.8936|10.8936	6.9339|6.9339	0.24457|0.24457	0.7856:0.0:0.2144:0.0|0.7856:0.0:0.2144:0.0	.|.	1388;1307|.	Q7Z591;Q7Z591-2|.	AKNA_HUMAN;.|.	T|P	1388;333;1388;848;1307|399	ENSP00000303769:I1388T;ENSP00000363192:I333T;ENSP00000363201:I1388T;ENSP00000223791:I848T;ENSP00000363188:I1307T|.	ENSP00000223791:I848T|ENSP00000314538:S399P	I|S	-|-	2|1	0|0	AKNA|AKNA	116139312|116139312	0.279000|0.279000	0.24239|0.24239	0.589000|0.589000	0.28718|0.28718	0.246000|0.246000	0.25737|0.25737	2.133000|2.133000	0.42093|0.42093	0.780000|0.780000	0.33566|0.33566	0.460000|0.460000	0.39030|0.39030	ATC|TCC			0.667	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053767.2		NM_030767		G	117099491	A	G	117099491	3	3	21	1	0	0	0	0	1	0	0	0	463	333	12	4	160	4	AKNA	9	117099491	Missense_Mutation	SNP	A	TCGA-2G-AAG6-01A-11D-A42Y-10	16260201	117099491	24113940	24	1347											
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	135140214	135140214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctggggtctggacccCtctggggctatggtaggagg	5	8	16	12	0	2	0	0	0	2	0	2	2	2	2	4	8	0	2	4	8	2	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:135140214C>G	ENST00000224140.5	-	26	7628	c.7446G>C	c.(7444-7446)gaG>gaC	p.E2482D	SETX_ENST00000393220.1_Missense_Mutation_p.E2449D|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.E2511D	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2482					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)		GTCTGGACCCCTCTGGGGCTA	0.512																																					p.E2482D													.	.			0			c.G7446C												102	104	104					9																	135140214		2203	4300	6503	SO:0001583	missense	23064	exon26			GGACCCCTCTGGG	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.7446G>C	9.37:g.135140214C>G	ENSP00000224140:p.Glu2482Asp		70	0	0		88	0.25	22	NM_015046	57	0.54	31	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187040	0.78789	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92965	-2.2;-3.14;-2.61;-1.91	4.83	3.91	0.45181	.	0.469982	0.19572	N	0.111080	D	0.94578	0.8253	M	0.70595	2.14	0.26647	N	0.972177	D;D;D	0.76494	0.996;0.999;0.999	P;D;D	0.74348	0.895;0.961;0.983	D	0.87829	0.2643	10	0.40728	T	0.16	.	10.9952	0.47571	0.0:0.9058:0.0:0.0942	.	2449;2482;2511	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	D	2482;753;2511;2449	ENSP00000224140:E2482D;ENSP00000409143:E753D;ENSP00000361242:E2511D;ENSP00000376913:E2449D	ENSP00000224140:E2482D	E	-	3	2	SETX	134130035	0.039000	0.19947	0.836000	0.33094	0.271000	0.26615	0.486000	0.22340	2.385000	0.81259	0.561000	0.74099	GAG			0.512	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054774.3		NM_015046		G	135140214	C	G	135140214	3	3	21	1	0	0	0	0	1	0	0	0	14164	680	24	5	591	5	SETX	9	135140214	Missense_Mutation	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10	18040723	135140214	6073217	25	1348											
CEL	1056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	135940444	135940444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtctcccgggacctgcccGttatgatctggatctatgga	7	11	11	12	2	3	1	0	1	3	0	4	4	3	4	3	3	1	1	3	3	2	2	rs201336247		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:135940444G>A	ENST00000372080.4	+	4	383	c.367G>A	c.(367-369)Gtt>Att	p.V123I	CEL_ENST00000351304.7_Missense_Mutation_p.V120I	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	120					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.V123I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGACCTGCCCGTTATGATCTG	0.652													g|||	1	0.000199681	0	0	5008	,	,		14119	0		0.001	False		,,,				2504	0				p.V123I													CEL,NS,carcinoma,0,1	CEL	0	1	1	Substitution - Missense(1)	endometrium(1)	c.G367A							A	ILE/VAL	0,3848		0,0,1924	72	78	76		367	2.3	0	9		76	1,8217		0,1,4108	yes	missense	CEL	NM_001807.3	29	0,1,6032	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	123/757	135940444	1,12065	1924	4109	6033	SO:0001583	missense	1056	exon4			CTGCCCGTTATGA	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.367G>A	9.37:g.135940444G>A	ENSP00000361151:p.Val123Ile		51	0	0		62	0.29	18	NM_001807	24	0.46	11	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973456	0.34848	0.0	1.22E-4	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	D;D	0.83673	-1.75;-1.75	5.16	2.34	0.29019	Carboxylesterase, type B (1);	0.237284	0.41712	N	0.000832	D	0.91199	0.7227	M	0.91920	3.255	0.40334	D	0.978953	D	0.89917	1.0	D	0.83275	0.996	D	0.89881	0.4030	10	0.87932	D	0	.	8.4174	0.32678	0.1322:0.1252:0.7427:0.0	.	120	P19835	CEL_HUMAN	I	123;120;123	ENSP00000361151:V123I;ENSP00000342217:V120I	ENSP00000304021:V123I	V	+	1	0	CEL	134930265	1.000000	0.71417	0.039000	0.18376	0.010000	0.07245	5.360000	0.66086	0.211000	0.20683	-0.927000	0.02713	GTT			0.652	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054823.1				A	135940444	G	A	135940444	3	1	21	1	0	0	0	0	1	0	0	0	3211	1145	40	1	381	1	CEL	9	135940444	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	800230	135940444	5272987	26	1349											
BEND7	222389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	13541880	13541880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggtagctcattccacaCaccacgtgaagacgggtgga	10	6	14	11	3	1	2	1	1	0	1	2	3	2	3	2	4	1	2	2	4	2	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr10:13541880C>T	ENST00000396900.2	-	3	345	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	BEND7_ENST00000341083.3_Missense_Mutation_p.V64M|BEND7_ENST00000378605.3_Missense_Mutation_p.V64M|BEND7_ENST00000396898.2_Missense_Mutation_p.V116M			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	116						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCATTCCACACACCACGTGAA	0.572																																					p.V64M													.	.			0			c.G190A												79	81	81					10																	13541880		2203	4300	6503	SO:0001583	missense	222389	exon2			TCCACACACCACG	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.346G>A	10.37:g.13541880C>T	ENSP00000380108:p.Val116Met		149	0	0		135	0.3	40	NM_001100912	5	0	0	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37		.	.	.	.	.	.	.	.	.	.	C	12.66	2.004613	0.35320	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.46063	0.88;0.88;0.92;0.92	5.8	1.28	0.21552	.	0.486751	0.24662	N	0.036623	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B;D	0.54964	0.412;0.969	B;B	0.43990	0.087;0.438	T	0.11179	-1.0598	10	0.56958	D	0.05	-0.7471	3.2391	0.06774	0.1166:0.504:0.1142:0.2651	.	116;64	E5RFC0;Q8N7W2-3	.;.	M	116;64;116;64	ENSP00000380108:V116M;ENSP00000345773:V64M;ENSP00000380107:V116M;ENSP00000367868:V64M	ENSP00000345773:V64M	V	-	1	0	BEND7	13581886	0.010000	0.17322	0.031000	0.17742	0.815000	0.46073	-0.059000	0.11731	0.367000	0.24454	0.650000	0.86243	GTG			0.572	BEND7-202	KNOWN	basic	protein_coding	protein_coding				NM_152751		T	13541880	C	T	13541880	3	4	21	1	0	0	0	0	1	0	0	0	1403	478	17	3	1295	3	BEND7	10	13541880	Missense_Mutation	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10		13541880	121992867	27	1350											
NRAP	4892	mdanderson.org	37	chr10	115417240	115417240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcacctcatttgccaGtggctgcctgttaggtgcac	5	14	9	13	0	3	0	2	0	1	0	4	0	3	0	3	2	3	3	3	2	1	3			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr10:115417240G>T	ENST00000359988.3	-	4	593	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	NRAP_ENST00000360478.3_Missense_Mutation_p.L117M|NRAP_ENST00000369358.4_Missense_Mutation_p.L117M|NRAP_ENST00000369360.3_Missense_Mutation_p.L117M	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCATTTGCCAGTGGCTGCCTG	0.388																																					p.L117M													.	.			0			c.C349A												143	113	123					10																	115417240		2203	4300	6503	SO:0001583	missense	4892	exon4			TTGCCAGTGGCTG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.349C>A	10.37:g.115417240G>T	ENSP00000353078:p.Leu117Met		65	0	0		57	0.05	3	NM_001261463	0		0		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	2.859	-0.236574	0.05944	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.24151	2.08;2.06;1.96;1.87	5.35	2.45	0.29901	.	0.365196	0.25604	N	0.029523	T	0.17874	0.0429	L	0.40543	1.245	0.09310	N	1	B;B;B	0.18610	0.017;0.029;0.006	B;B;B	0.24848	0.025;0.056;0.025	T	0.20405	-1.0276	10	0.34782	T	0.22	.	3.9648	0.09426	0.3006:0.0:0.5292:0.1702	.	117;117;117	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	M	117	ENSP00000358365:L117M;ENSP00000358367:L117M;ENSP00000353078:L117M;ENSP00000353666:L117M	ENSP00000353078:L117M	L	-	1	2	NRAP	115407230	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	-0.111000	0.10807	0.225000	0.20959	0.555000	0.69702	CTG			0.388	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050425.2		NM_006175		T	115417240	G	T	115417240	3	4	21	1	0	0	0	0	1	0	0	0	10655	1020	36	3	4999	3	NRAP	10	115417240	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	101875360	115417240	20117507	28	1351											
TRPM5	29850	mdanderson.org	37	chr11	2434720	2434720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccacctgaaggtgatgagGttggtatagacgagggcggg	10	7	17	7	2	0	4	0	3	0	1	0	5	0	4	2	5	0	2	2	5	3	3			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:2434720G>T	ENST00000155858.6	-	13	1997	c.1989C>A	c.(1987-1989)aaC>aaA	p.N663K	TRPM5_ENST00000533060.1_Missense_Mutation_p.N663K|TRPM5_ENST00000452833.1_Missense_Mutation_p.N665K|TRPM5_ENST00000528453.1_Missense_Mutation_p.N663K	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)		AGGTGATGAGGTTGGTATAGA	0.682																																					p.N663K	NSCLC(1;49 61 17205 18850 43201)												.	.			0			c.C1989A												37	39	39					11																	2434720		2198	4299	6497	SO:0001583	missense	29850	exon13			GATGAGGTTGGTA	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.1989C>A	11.37:g.2434720G>T	ENSP00000155858:p.Asn663Lys		122	0	0		125	0.05	6	NM_014555	0		0		Missense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431349	0.43122	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	3.97	1.99	0.26369	.	0.063176	0.64402	D	0.000008	T	0.56630	0.1998	L	0.50333	1.59	0.38911	D	0.957537	P;P;B	0.35242	0.492;0.492;0.317	B;B;B	0.34489	0.184;0.184;0.177	T	0.45512	-0.9256	10	0.21014	T	0.42	-28.8489	5.2515	0.15524	0.1992:0.0:0.638:0.1628	.	663;665;663	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	K	657;663;665;663;663;663	ENSP00000434383:N657K;ENSP00000155858:N663K;ENSP00000387965:N665K;ENSP00000434121:N663K;ENSP00000436809:N663K	ENSP00000155858:N663K	N	-	3	2	TRPM5	2391296	1.000000	0.71417	0.998000	0.56505	0.522000	0.34438	1.394000	0.34509	0.245000	0.21373	0.313000	0.20887	AAC			0.682	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000027378.1		NM_014555		T	2434720	G	T	2434720	3	4	21	1	0	0	0	0	1	0	0	0	16613	1252	44	3	1556	3	TRPM5	11	2434720	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10		2434720	132571796	29	1352											
OR51V1	283111	mdanderson.org	37	chr11	5221498	5221498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataattctggaattagtcaGgatggaggaataacgtagtg	14	11	13	3	1	2	0	1	0	1	0	2	5	2	4	0	4	1	1	0	4	6	5			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:5221498G>T	ENST00000321255.1	-	1	432	c.433C>A	c.(433-435)Ctg>Atg	p.L145M		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	145					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)		GAATTAGTCAGGATGGAGGAA	0.398																																					p.L145M													.	.			0			c.C433A												54	57	56					11																	5221498		2201	4298	6499	SO:0001583	missense	283111	exon1			TAGTCAGGATGGA	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.433C>A	11.37:g.5221498G>T	ENSP00000321729:p.Leu145Met		62	0	0		48	0.06	3	NM_001004760	0		0		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037336	0.35989	.	.	ENSG00000176742	ENST00000321255	T	0.17854	2.25	5.27	0.898	0.19264	GPCR, rhodopsin-like superfamily (1);	0.390087	0.18268	N	0.146420	T	0.21145	0.0509	N	0.20304	0.555	0.21740	N	0.999564	D	0.76494	0.999	D	0.79784	0.993	T	0.04723	-1.0931	10	0.87932	D	0	.	6.5769	0.22571	0.2459:0.0:0.6211:0.133	.	145	Q9H2C8	O51V1_HUMAN	M	145	ENSP00000321729:L145M	ENSP00000321729:L145M	L	-	1	2	OR51V1	5178074	0.114000	0.22134	0.538000	0.28064	0.381000	0.30169	0.009000	0.13219	0.330000	0.23485	0.655000	0.94253	CTG			0.398	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142965.1		NM_001004760		T	5221498	G	T	5221498	3	4	21	1	0	0	0	0	1	0	0	0	11124	991	35	3	535	3	OR51V1	11	5221498	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	2786778	5221498	129785018	30	1353											
TAF10	6881	mdanderson.org	37	chr11	6633037	6633037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggcgccgcgccacccGccgacaccggagctggagga	6	1	17	17	7	0	0	0	0	0	0	0	4	0	3	6	5	1	1	6	5	0	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:6633037G>A	ENST00000299424.4	-	2	722	c.245C>T	c.(244-246)gCg>gTg	p.A82V	TAF10_ENST00000531760.1_5'UTR|RP11-732A19.2_ENST00000527398.1_RNA	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	82					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGCGCCACCCGCCGACACCGG	0.672																																					p.A82V													.	.			0			c.C245T												8	11	10					11																	6633037		2145	4232	6377	SO:0001583	missense	6881	exon2			CCACCCGCCGACA	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.245C>T	11.37:g.6633037G>A	ENSP00000299424:p.Ala82Val		50	0	0		42	0.07	3	NM_006284	74	0	0	O00703|Q13175|Q6FH13	Missense_Mutation	SNP	ENST00000299424.4	37	CCDS7769.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282366	0.59867	.	.	ENSG00000166337	ENST00000299424	T	0.50813	0.73	4.76	3.84	0.44239	.	0.128117	0.51477	D	0.000082	T	0.36386	0.0965	L	0.38175	1.15	0.50632	D	0.999886	D	0.54964	0.969	B	0.39503	0.301	T	0.33137	-0.9880	10	0.62326	D	0.03	-4.4602	12.7062	0.57061	0.0:0.167:0.833:0.0	.	82	Q12962	TAF10_HUMAN	V	82	ENSP00000299424:A82V	ENSP00000299424:A82V	A	-	2	0	TAF10	6589613	1.000000	0.71417	0.907000	0.35723	0.415000	0.31203	5.962000	0.70364	1.194000	0.43101	0.561000	0.74099	GCG			0.672	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257259.2		NM_006284		A	6633037	G	A	6633037	3	1	21	1	0	0	0	0	1	0	0	0	15537	1087	38	1	427	1	TAF10	11	6633037	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	1411539	6633037	128373479	31	1354											
FLRT1	28992	broad.mit.edu;mdanderson.org	37	chr11	63884330	63884330	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcccctcggggctgccGcacacgctggaggagctgcg	6	5	15	15	4	0	0	0	0	0	0	2	2	1	2	3	4	4	5	3	4	0	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:63884330G>A	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.P197P|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGGGCTGCCGCACACGCTGG	0.652																																					p.P197P													.	FLRT1	46		0			c.G591A												26	24	25					11																	63884330		2185	4269	6454	SO:0001627	intron_variant	23769	exon2			GCTGCCGCACACG	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34380C>T	11.37:g.63884330G>A			31	0	0		39	0.08	3	NM_013280	2	0	0	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																					0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396570.1		NM_014067		A	63884330	G	A	63884330	1	1	21	0	1	0	0	0	0	0	0	0	5951	1074	38	1		1	FLRT1	11	63884330	Intron	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	57251293	63884330	71122186	32	1355											
RPS6KA4	8986	mdanderson.org	37	chr11	64135945	64135945	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttcgcctccaggactcGcccttcttccagcagtacga	6	9	8	18	4	1	0	0	0	1	0	5	2	3	1	5	1	2	2	5	1	1	4			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:64135945G>T	ENST00000334205.4	+	11	1271	c.1206G>T	c.(1204-1206)tcG>tcT	p.S402S	MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000528057.1_Intron	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	402					axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						tCCAGGACTCGCCCTTCTTCC	0.711																																					p.S402S													.	.			0			c.G1206T												10	12	11					11																	64135945		2106	4142	6248	SO:0001819	synonymous_variant	8986	exon11			GGACTCGCCCTTC	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1206G>T	11.37:g.64135945G>T			43	0	0		43	0.07	3	NM_003942	25	0	0	A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	CCDS8073.1																																																																																					0.711	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106246.2		NM_003942		T	64135945	G	T	64135945	2	4	21	1	0	0	0	0	0	0	0	1	13676	1074	38	1		1	RPS6KA4	11	64135945	Silent	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	251615	64135945	70870571	33	1356											
C11orf65	160140	hgsc.bcm.edu;broad.mit.edu	37	chr11	108256666	108256666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttgaagttagccgaagaGttgcttgtagcaatttcctt	9	15	9	8	1	0	2	0	1	0	1	1	3	1	2	3	0	3	5	3	0	5	7			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:108256666G>T	ENST00000529391.1	-	7	777	c.768C>A	c.(766-768)aaC>aaA	p.N256K	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000393084.1_Missense_Mutation_p.N256K|C11orf65_ENST00000525729.1_Missense_Mutation_p.N207K			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	256										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)		TAGCCGAAGAGTTGCTTGTAG	0.333																																					p.N256K													.	.			0			c.C768A												171	178	175					11																	108256666		2201	4298	6499	SO:0001583	missense	160140	exon8			CGAAGAGTTGCTT	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.768C>A	11.37:g.108256666G>T	ENSP00000436400:p.Asn256Lys		126	0	0		95	0.04	4	NM_152587	0		0	B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	G	6.522	0.464619	0.12402	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084	.	.	.	5.77	2.74	0.32292	.	0.626305	0.16754	N	0.200886	T	0.35885	0.0947	L	0.43152	1.355	0.28331	N	0.921788	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.006	T	0.29458	-1.0011	9	0.07813	T	0.8	-3.0673	12.0171	0.53319	0.0:0.5039:0.3668:0.1293	.	207;256	B4DZU4;Q8NCR3	.;CK065_HUMAN	K	207;256;256	.	ENSP00000376799:N256K	N	-	3	2	C11orf65	107761876	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	0.551000	0.23361	0.293000	0.22520	-0.172000	0.13284	AAC			0.333	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390010.3		NM_152587		T	108256666	G	T	108256666	3	4	21	1	0	0	0	0	1	0	0	0	1657	1020	36	3	181	3	C11orf65	11	108256666	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	44120721	108256666	26749850	34	1357											
HEPACAM	641654	mdanderson.org	37	chr11	124793237	124793237	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggagagttacccagaccTtttggagggtttccagcagg	9	10	13	9	0	1	2	1	0	0	2	2	4	2	3	3	4	2	3	3	4	1	4			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:124793237T>C	ENST00000408930.5	+	0	1428				HEPACAM_ENST00000298251.4_Splice_Site_p.R268G	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1							cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TACCCAGACCTTTTGGAGGGT	0.488																																					p.R268G													.	.			0			c.A802G												160	158	159					11																	124793237		2201	4299	6500	SO:0001628	intergenic_variant	220296	exon4			CAGACCTTTTGGA	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"cancer susceptibility gene HEPN1"	611641	"HEPACAM opposite strand 1"			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939		11.37:g.124793237T>C			24	0	0		31	0.1	3	NM_152722	0		0		Missense_Mutation	SNP	ENST00000408930.5	37	CCDS41729.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846687	0.51164	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.53206	0.63	5.47	5.47	0.80525	.	0.551722	0.19900	N	0.103530	T	0.31199	0.0789	N	0.08118	0	0.36782	D	0.884396	B;B	0.13145	0.007;0.001	B;B	0.04013	0.001;0.001	T	0.25710	-1.0124	10	0.52906	T	0.07	-15.7932	15.5341	0.75990	0.0:0.0:0.0:1.0	.	268;268	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	G	268	ENSP00000298251:R268G	ENSP00000298251:R268G	R	-	1	2	HEPACAM	124298447	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	3.790000	0.55461	2.073000	0.62155	0.523000	0.50628	AGG			0.488	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387129.1		NM_001037558		C	124793237	T	C	124793237	1	2	21	0	1	0	0	0	0	0	0	0	7067	1623	56	4		4	HEPACAM	11	124793237	IGR	SNP	T	TCGA-2G-AAG6-01A-11D-A42Y-10	16536571	124793237	10213279	35	1358											
SLC2A14	144195	broad.mit.edu	37	chr12	7982479	7982479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaaacctgtgcagagtccGcagaagaggccaataaccaa	17	4	9	11	1	0	3	0	0	0	3	1	3	1	3	4	1	3	2	4	1	6	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr12:7982479G>A	ENST00000543909.1	-	10	1224	c.465C>T	c.(463-465)tgC>tgT	p.C155C	SLC2A14_ENST00000396589.2_Silent_p.C155C|SLC2A14_ENST00000535295.1_Silent_p.C46C|SLC2A14_ENST00000431042.2_Silent_p.C132C|SLC2A14_ENST00000542546.1_Silent_p.C46C|SLC2A14_ENST00000340749.5_Silent_p.C132C|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Silent_p.C170C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	155					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)		TGCAGAGTCCGCAGAAGAGGC	0.532																																					p.C155C													.	SLC2A14	78		0			c.C465T												86	79	81					12																	7982479		2203	4300	6503	SO:0001819	synonymous_variant	144195	exon6			GAGTCCGCAGAAG	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.465C>T	12.37:g.7982479G>A			270	0	0		793	0.01	6	NM_153449	0		0	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	CCDS8585.1																																																																																					0.532	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399836.2		NM_153449		A	7982479	G	A	7982479	2	1	21	1	0	0	0	0	0	0	0	1	14566	1079	38	1		1	SLC2A14	12	7982479	Silent	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10		7982479	125869416	36	1359											
C12orf51	283450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	112622476	112622476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcagcgggatgtagaTctcgtctttgaagaccccgc	7	11	11	12	3	2	3	0	1	2	2	4	4	3	4	3	1	2	2	3	1	2	3			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr12:112622476T>C	ENST00000430131.2	-	60	10173	c.9028A>G	c.(9028-9030)Atc>Gtc	p.I3010V	HECTD4_ENST00000550722.1_Missense_Mutation_p.I3286V|HECTD4_ENST00000377560.5_Missense_Mutation_p.I3260V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3010					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)										GGGATGTAGATCTCGTCTTTG	0.632																																					p.I3298V													.	.			0			c.A9892G												107	130	122					12																	112622476		2122	4237	6359	SO:0001583	missense	283450	exon61			TGTAGATCTCGTC	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.9028A>G	12.37:g.112622476T>C	ENSP00000404379:p.Ile3010Val		76	0	0		81	0.2	16	NM_001109662	20	0.3	6	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	T	10.42	1.346533	0.24426	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52295	0.68;0.68;0.67	5.52	5.52	0.82312	.	.	.	.	.	T	0.43590	0.1254	N	0.17082	0.46	0.49213	D	0.999769	P	0.35745	0.518	P	0.44647	0.456	T	0.50625	-0.8806	9	0.87932	D	0	.	15.641	0.77001	0.0:0.0:0.0:1.0	.	3010	Q9Y4D8	K0614_HUMAN	V	3260;3010;3286	ENSP00000366783:I3260V;ENSP00000404379:I3010V;ENSP00000449784:I3286V	ENSP00000366783:I3260V	I	-	1	0	C12orf51	111106859	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	4.410000	0.59774	2.101000	0.63845	0.482000	0.46254	ATC			0.632	HECTD4-202	KNOWN	basic	protein_coding	protein_coding				NM_173813		C	112622476	T	C	112622476	3	2	21	1	0	0	0	0	1	0	0	0	1698	1435	50	4	3026	4	C12orf51	12	112622476	Missense_Mutation	SNP	T	TCGA-2G-AAG6-01A-11D-A42Y-10	104639997	112622476	21229419	37	1360											
VPS37B	79720	broad.mit.edu;mdanderson.org	37	chr12	123351821	123351821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcactgtaatcctgggtacgGcacggcctgtcccgaactca	8	8	11	14	3	1	0	1	0	0	0	3	1	3	0	3	3	2	4	3	3	3	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr12:123351821G>T	ENST00000267202.2	-	4	1081	c.700C>A	c.(700-702)Ccg>Acg	p.P234T	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	234	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCTGGGTACGGCACGGCCTGT	0.682																																					p.P234T													.	VPS37B	26		0			c.C700A												14	15	15					12																	123351821		2190	4271	6461	SO:0001583	missense	79720	exon4			GGTACGGCACGGC	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"vacuolar protein sorting 37B (yeast)"			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.700C>A	12.37:g.123351821G>T	ENSP00000267202:p.Pro234Thr		47	0	0		67	0.06	4	NM_024667	16	0	0		Missense_Mutation	SNP	ENST00000267202.2	37	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	G	4.002	-0.002381	0.07819	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.61392	0.11;0.14	5.16	4.24	0.50183	.	0.574956	0.19486	N	0.113112	T	0.53174	0.1780	M	0.62723	1.935	0.09310	N	1	B	0.28713	0.22	B	0.28139	0.086	T	0.52041	-0.8628	10	0.59425	D	0.04	-11.8259	9.3513	0.38140	0.0863:0.1525:0.7612:0.0	.	234	Q9H9H4	VP37B_HUMAN	T	234;232	ENSP00000267202:P234T;ENSP00000446075:P232T	ENSP00000267202:P234T	P	-	1	0	VPS37B	121917774	0.987000	0.35691	0.001000	0.08648	0.013000	0.08279	3.497000	0.53295	1.092000	0.41356	0.655000	0.94253	CCG			0.682	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400946.1		NM_024667		T	123351821	G	T	123351821	3	4	21	1	0	0	0	0	1	0	0	0	17230	1203	42	2	161	2	VPS37B	12	123351821	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	10729345	123351821	10500074	38	1361											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32915726	32915726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgcacatctttagaagaCcatattcataccgaagggct	12	11	8	10	1	2	2	1	0	1	2	2	3	2	2	2	1	2	3	2	1	5	6			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr15:32915726C>A	ENST00000361627.3	+	3	956	c.234C>A	c.(232-234)gaC>gaA	p.D78E	ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000565905.1_5'UTR	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	78	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)	p.D78E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CTTTAGAAGACCATATTCATA	0.373																																					p.D78E	Colon(45;757 1134 30003 36652)												ARHGAP11A,NS,carcinoma,0,2	ARHGAP11A	84	2	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.C234A												148	143	144					15																	32915726		2201	4300	6501	SO:0001583	missense	9824	exon3			AGAAGACCATATT	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.234C>A	15.37:g.32915726C>A	ENSP00000355090:p.Asp78Glu		240	0.0041666667	1		266	0.02	4	NM_199357	13	0	0	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	1.662	-0.511152	0.04231	.	.	ENSG00000198826	ENST00000361627	T	0.17213	2.29	4.76	-1.96	0.07525	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.411168	0.20407	N	0.092924	T	0.04092	0.0114	N	0.02379	-0.575	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47699	-0.9097	10	0.02654	T	1	.	6.1194	0.20144	0.3949:0.2143:0.3908:0.0	.	78	Q6P4F7	RHGBA_HUMAN	E	78	ENSP00000355090:D78E	ENSP00000355090:D78E	D	+	3	2	ARHGAP11A	30703018	0.766000	0.28496	0.835000	0.33067	0.834000	0.47266	-0.139000	0.10358	-1.045000	0.03250	-1.217000	0.01609	GAC			0.373	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251417.1		NM_014783		A	32915726	C	A	32915726	3	1	21	1	0	0	0	0	1	0	0	0	863	506	18	3	244	3	ARHGAP11A	15	32915726	Missense_Mutation	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10		32915726	69615666	39	1362											
LMAN1L	79748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	75111137	75111137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcagagcacggatcacCtactgggggcagaggctgcg	8	6	14	13	2	2	2	2	0	0	2	2	3	2	3	2	4	3	3	2	4	1	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr15:75111137C>T	ENST00000309664.5	+	5	715	c.576C>T	c.(574-576)acC>acT	p.T192T	LMAN1L_ENST00000379709.3_Silent_p.T192T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	192	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACGGATCACCTACTGGGGGC	0.607																																					p.T192T													.	.			0			c.C576T												54	42	46					15																	75111137		2197	4296	6493	SO:0001819	synonymous_variant	79748	exon5			GATCACCTACTGG	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.576C>T	15.37:g.75111137C>T			75	0	0		109	0.2	22	NM_021819	1	0	0	Q6UWN2	Silent	SNP	ENST00000309664.5	37	CCDS10270.1																																																																																					0.607	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286397.4				T	75111137	C	T	75111137	2	4	21	1	0	0	0	0	0	0	0	1	8852	668	24	3		3	LMAN1L	15	75111137	Silent	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10	42195411	75111137	27420255	40	1363											
CASKIN1	57524	mdanderson.org	37	chr16	2230285	2230285	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctggcagggcggggagtGgggtggccctcaggaggcct	4	5	23	9	1	1	0	1	0	0	0	1	2	1	2	2	10	0	2	2	10	0	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr16:2230285G>T	ENST00000343516.6	-	18	3176	c.3084C>A	c.(3082-3084)ccC>ccA	p.P1028P	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1028	Pro-rich.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCGGGGAGTGGGGTGGCCCT	0.716																																					p.P1028P													.	.			0			c.C3084A												3	4	4					16																	2230285		1486	3394	4880	SO:0001819	synonymous_variant	57524	exon18			GGGAGTGGGGTGG	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.3084C>A	16.37:g.2230285G>T			31	0	0		46	0.07	3	NM_020764	2	0	0	Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																					0.716	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435055.1		NM_020764		T	2230285	G	T	2230285	2	4	21	1	0	0	0	0	0	0	0	1	2668	1335	47	3		3	CASKIN1	16	2230285	Silent	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10		2230285	88124468	41	1364											
ITPRIPL2	162073	mdanderson.org	37	chr16	19126187	19126187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctggtgcgggctggccGcgcccgggggtcccccggtc	1	5	19	16	6	0	0	0	0	0	0	2	1	1	0	4	6	2	2	4	6	0	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr16:19126187G>T	ENST00000381440.3	+	1	934	c.404G>T	c.(403-405)cGc>cTc	p.R135L	CTD-2349B8.1_ENST00000564808.2_3'UTR	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	135						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGGCTGGCCGCGCCCGGGGG	0.667																																					p.R135L													.	.			0			c.G404T												7	7	7					16																	19126187		2144	4170	6314	SO:0001583	missense	162073	exon1			CTGGCCGCGCCCG		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.404G>T	16.37:g.19126187G>T	ENSP00000370849:p.Arg135Leu		53	0	0		35	0.09	3	NM_001034841	30	0	0		Missense_Mutation	SNP	ENST00000381440.3	37	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473252	0.63737	.	.	ENSG00000205730	ENST00000381440	T	0.23950	1.88	4.03	4.03	0.46877	.	0.244651	0.24978	U	0.034087	T	0.21022	0.0506	L	0.27053	0.805	0.37888	D	0.930628	D	0.57257	0.979	P	0.48654	0.585	T	0.06607	-1.0817	10	0.87932	D	0	-11.4871	5.9827	0.19415	0.2646:0.0:0.7354:0.0	.	135	Q3MIP1	IPIL2_HUMAN	L	135	ENSP00000370849:R135L	ENSP00000370849:R135L	R	+	2	0	ITPRIPL2	19033688	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	4.082000	0.57635	1.962000	0.57031	0.563000	0.77884	CGC			0.667	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435827.3		NM_001034841		T	19126187	G	T	19126187	3	4	21	1	0	0	0	0	1	0	0	0	7940	1087	38	1	406	1	ITPRIPL2	16	19126187	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	16895902	19126187	71228566	42	1365											
SPIRE2	84501	mdanderson.org	37	chr16	89925692	89925692	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcggccacccaccccccAggagggacggagccaccacg	9	1	12	19	3	0	0	0	0	0	0	1	3	0	3	7	4	1	0	7	4	0	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr16:89925692A>G	ENST00000378247.3	+	9	1435	c.1392A>G	c.(1390-1392)ccA>ccG	p.P464P	SPIRE2_ENST00000393062.2_Silent_p.P464P	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	464					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCACCCCCCAGGAGGGACGG	0.692																																					p.P464P													.	.			0			c.A1392G												32	32	32					16																	89925692		2198	4298	6496	SO:0001819	synonymous_variant	84501	exon9			CCCCCCAGGAGGG	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1392A>G	16.37:g.89925692A>G			25	0	0		51	0.06	3	NM_032451	4	0	0	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	CCDS32516.1																																																																																					0.692	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421843.1		XM_047462		G	89925692	A	G	89925692	2	3	21	1	0	0	0	0	0	0	0	1	15095	175	7	4		4	SPIRE2	16	89925692	Silent	SNP	A	TCGA-2G-AAG6-01A-11D-A42Y-10	70799505	89925692	429061	43	1366											
TRPV3	162514	broad.mit.edu	37	chr17	3438998	3438998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgatggcgatgttcagcGccgtctgccctgcggagcgg	4	8	16	13	6	2	0	1	0	1	0	3	3	2	1	2	3	4	2	2	3	0	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr17:3438998G>T	ENST00000576742.1	-	7	974	c.653C>A	c.(652-654)gCg>gAg	p.A218E	TRPV3_ENST00000301365.4_Missense_Mutation_p.A218E|TRPV3_ENST00000572519.1_Missense_Mutation_p.A218E	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	218					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)	GATGTTCAGCGCCGTCTGCCC	0.736																																					p.A218E													.	TRPV3	85		0			c.C653A												8	9	9					17																	3438998		2163	4231	6394	SO:0001583	missense	162514	exon7			TTCAGCGCCGTCT	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.653C>A	17.37:g.3438998G>T	ENSP00000461518:p.Ala218Glu		57	0	0		82	0.12	10	NM_001258205	0		0	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	36	5.688246	0.96784	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.71341	-0.56	5.03	5.03	0.67393	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.89491	0.6730	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.997;0.999;1.0;1.0;0.997	D;D;D;D;D;D;P	0.91635	0.979;0.993;0.933;0.993;0.999;0.999;0.89	D	0.92506	0.6012	10	0.87932	D	0	-11.7793	18.2979	0.90153	0.0:0.0:1.0:0.0	.	202;202;218;202;218;218;218	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	E	218;218;202	ENSP00000301365:A218E	ENSP00000301365:A218E	A	-	2	0	TRPV3	3385748	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.422000	0.97458	2.741000	0.93983	0.555000	0.69702	GCG			0.736	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000207379.2		NM_145068		T	3438998	G	T	3438998	3	4	21	1	0	0	0	0	1	0	0	0	16621	1087	38	1	1767	1	TRPV3	17	3438998	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10		3438998	77756212	44	1367											
GUCY2D	3000	mdanderson.org	37	chr17	7918715	7918715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaatgggcagcgacacgcgGcagagatcgccaacatgtca	12	4	14	11	4	1	1	1	0	0	1	2	4	1	2	1	3	2	2	1	3	2	0			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr17:7918715G>A	ENST00000254854.4	+	15	2989	c.2839G>A	c.(2839-2841)Gca>Aca	p.A947T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	947	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)			skin(1)	1		Prostate(122;0.157)				GCGACACGCGGCAGAGATCGC	0.602																																					p.A947T													.	.			0			c.G2839A												52	46	48					17																	7918715		2203	4300	6503	SO:0001583	missense	3000	exon15			CACGCGGCAGAGA	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2839G>A	17.37:g.7918715G>A	ENSP00000254854:p.Ala947Thr		30	0	0		43	0.07	3	NM_000180	0		0	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589629	0.86851	.	.	ENSG00000132518	ENST00000254854	T	0.81415	-1.49	4.92	4.92	0.64577	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.131711	0.34802	N	0.003670	T	0.73999	0.3659	N	0.17872	0.535	0.41734	D	0.989574	P	0.36199	0.543	B	0.42692	0.395	T	0.72459	-0.4287	10	0.27785	T	0.31	.	17.0538	0.86527	0.0:0.0:1.0:0.0	.	947	Q02846	GUC2D_HUMAN	T	947	ENSP00000254854:A947T	ENSP00000254854:A947T	A	+	1	0	GUCY2D	7859440	1.000000	0.71417	0.691000	0.30163	0.932000	0.56968	6.635000	0.74295	2.546000	0.85860	0.467000	0.42956	GCA			0.602	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226973.2				A	7918715	G	A	7918715	3	1	21	1	0	0	0	0	1	0	0	0	6912	1203	42	2	2893	2	GUCY2D	17	7918715	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	4479717	7918715	73276495	45	1368											
ALDH3A1	218	mdanderson.org	37	chr17	19642952	19642952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatctcctcttgcatcaccgGggactgggggtccacgtccg	5	9	13	14	3	3	0	1	0	2	0	6	2	5	1	4	4	1	1	4	4	0	1	rs2228100	byFrequency	TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr17:19642952G>A	ENST00000457500.2	-	7	1314	c.985C>T	c.(985-987)Ccg>Tcg	p.P329S	ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.P256S|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.P329S|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.P329S|RP11-311F12.2_ENST00000580884.1_RNA	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	329			P -> A (in allele ALDH3A1*2; dbSNP:rs2228100). {ECO:0000269|PubMed:9250352}.		aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGCATCACCGGGGACTGGGGG	0.637																																					p.P329S													.	.			0			c.C985T												50	45	47					17																	19642952		2203	4300	6503	SO:0001583	missense	218	exon7			TCACCGGGGACTG	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.985C>T	17.37:g.19642952G>A	ENSP00000411821:p.Pro329Ser		57	0	0		80	0.04	3	NM_001135168	5	0	0	A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845351	0.32606	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	4.82	2.57	0.30868	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.459276	0.24947	N	0.034329	T	0.63200	0.2491	L	0.28740	0.885	0.30547	P	0.765855	B;P;B	0.40211	0.014;0.707;0.014	B;B;B	0.41036	0.028;0.346;0.028	T	0.74858	-0.3521	9	0.54805	T	0.06	-36.1848	11.1793	0.48618	0.0:0.0:0.6212:0.3788	.	329;446;329	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	S	329;387;329;329;256;329	ENSP00000225740:P329S;ENSP00000388469:P329S;ENSP00000411821:P329S;ENSP00000389766:P329S	ENSP00000225740:P329S	P	-	1	0	ALDH3A1	19583544	0.256000	0.24012	0.947000	0.38551	0.652000	0.38707	0.843000	0.27640	2.232000	0.73038	0.655000	0.94253	CCG			0.637	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132265.4		NM_000691		A	19642952	G	A	19642952	3	1	21	1	0	0	0	0	1	0	0	0	497	1232	43	3	392	3	ALDH3A1	17	19642952	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	11724237	19642952	61552258	46	1369											
MBD1	4152	mdanderson.org	37	chr18	47800013	47800013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccttcccgtaaaaacacaAggtcagtgccaggcgggggc	10	5	13	13	3	1	0	1	0	0	0	2	0	2	0	3	4	2	1	3	4	4	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr18:47800013A>G	ENST00000591416.1	-	12	1798	c.1367T>C	c.(1366-1368)cTt>cCt	p.L456P	MBD1_ENST00000349085.2_Missense_Mutation_p.L400P|MBD1_ENST00000347968.3_Missense_Mutation_p.L400P|MBD1_ENST00000457839.2_Missense_Mutation_p.L481P|MBD1_ENST00000353909.3_Missense_Mutation_p.L407P|MBD1_ENST00000269471.5_Missense_Mutation_p.L433P|MBD1_ENST00000398493.1_Missense_Mutation_p.L400P|MBD1_ENST00000269468.5_Missense_Mutation_p.L456P|MBD1_ENST00000398488.1_Missense_Mutation_p.L400P|MBD1_ENST00000398495.2_Missense_Mutation_p.L425P|MBD1_ENST00000424334.2_Missense_Mutation_p.L507P|MBD1_ENST00000436910.1_Missense_Mutation_p.L433P|MBD1_ENST00000585595.1_Missense_Mutation_p.L481P|MBD1_ENST00000588937.1_Missense_Mutation_p.L433P|MBD1_ENST00000590208.1_Missense_Mutation_p.L456P|MBD1_ENST00000585672.1_Missense_Mutation_p.L406P|MBD1_ENST00000587605.1_Missense_Mutation_p.L400P|MBD1_ENST00000591535.1_Missense_Mutation_p.L433P|MBD1_ENST00000382948.5_Missense_Mutation_p.L456P|MBD1_ENST00000339998.6_Missense_Mutation_p.L456P			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	456					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)	p.L456R(3)|p.L481R(1)|p.L433R(1)		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						TAAAAACACAAGGTCAGTGCC	0.627																																					p.L481P													MBD1_ENST00000457839,NS,carcinoma,0,5	MBD1_ENST00000457839	0	5	5	Substitution - Missense(5)	lung(4)|large_intestine(1)	c.T1442C												60	55	57					18																	47800013		2203	4300	6503	SO:0001583	missense	4152	exon13			AACACAAGGTCAG	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.1367T>C	18.37:g.47800013A>G	ENSP00000467017:p.Leu456Pro		37	0	0		38	0.08	3	NM_001204137	41	0	0	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124127	0.56613	.	.	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	0.97404	-4.11;-4.12;-4.37;-4.11;-4.08;-4.05;-4.06;-4.11;-4.07;-4.09;-4.08;-4.37	4.44	4.44	0.53790	.	0.373697	0.23237	N	0.050394	D	0.96399	0.8825	L	0.27053	0.805	0.48135	D	0.999597	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.997;0.999;1.0;0.998;0.999;0.997;0.998;0.992;0.998	D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.962;0.996;0.974;0.959;0.983;0.983;0.961;0.996;0.959;0.971;0.935;0.971	D	0.95246	0.8355	10	0.42905	T	0.14	-10.2249	10.3809	0.44110	1.0:0.0:0.0:0.0	.	400;507;433;456;456;433;407;400;456;400;481;400	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	P	456;407;400;456;400;433;433;507;456;456;481;400;400	ENSP00000372407:L456P;ENSP00000269469:L407P;ENSP00000342531:L400P;ENSP00000269468:L456P;ENSP00000285102:L400P;ENSP00000409561:L433P;ENSP00000269471:L433P;ENSP00000408846:L507P;ENSP00000339546:L456P;ENSP00000405268:L481P;ENSP00000381506:L400P;ENSP00000381502:L400P	ENSP00000269468:L456P	L	-	2	0	MBD1	46054011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.758000	0.55220	2.223000	0.72356	0.454000	0.30748	CTT			0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255926.3		NM_015846		G	47800013	A	G	47800013	3	3	21	1	0	0	0	0	1	0	0	0	9358	72	3	4	664	4	MBD1	18	47800013	Missense_Mutation	SNP	A	TCGA-2G-AAG6-01A-11D-A42Y-10		47800013	30277235	47	1370											
CXXC1	30827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	47810855	47810855	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgacgcagggtccttGgcatcagccctctctgggtg	5	9	15	12	1	2	1	1	1	1	0	4	1	3	1	2	4	1	3	2	4	0	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr18:47810855G>T	ENST00000285106.6	-	9	1812	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000591416.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000398493.1_5'Flank|CXXC1_ENST00000589940.1_Silent_p.A366A|MBD1_ENST00000269468.5_5'Flank|CXXC1_ENST00000412036.2_Silent_p.A370A|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000382948.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	366					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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CAGGGTCCTTGGCATCAGCCC	0.592																																					p.A370A													.	.			0			c.C1110A												151	160	157					18																	47810855		2203	4300	6503	SO:0001819	synonymous_variant	30827	exon9			GTCCTTGGCATCA	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1098C>A	18.37:g.47810855G>T			41	0	0		59	0.08	5	NM_001101654	45	0	0	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	CCDS11945.1																																																																																					0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255927.2		NM_014593		T	47810855	G	T	47810855	2	4	21	1	0	0	0	0	0	0	0	1	4099	1335	47	3		3	CXXC1	18	47810855	Silent	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	10842	47810855	30266393	48	1371											
AZU1	566	mdanderson.org	37	chr19	830737	830737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggccaacctcaccagcagCgtgacgatactgccactgcc	10	5	10	16	2	1	1	1	1	0	0	1	3	1	1	5	1	6	1	5	1	2	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:830737C>A	ENST00000233997.2	+	4	411	c.390C>A	c.(388-390)agC>agA	p.S130R		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			S -> N (in Ref. 7; AA sequence). {ECO:0000305}.	cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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)		TCACCAGCAGCGTGACGATAC	0.682																																					p.S130R													.	.			0			c.C390A												34	31	32					19																	830737		2203	4300	6503	SO:0001583	missense	566	exon4			CAGCAGCGTGACG	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.390C>A	19.37:g.830737C>A	ENSP00000233997:p.Ser130Arg		23	0	0		12	0.17	2	NM_001700	1	0	0	P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	C	0.311	-0.968077	0.02232	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.92699	-3.09	1.45	-2.89	0.05665	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.78836	0.4346	N	0.16307	0.4	0.09310	N	1	B	0.31413	0.322	B	0.31751	0.135	T	0.66870	-0.5814	9	0.12766	T	0.61	.	0.7922	0.01059	0.1717:0.2208:0.1709:0.4366	.	130	P20160	CAP7_HUMAN	R	144;130	ENSP00000233997:S130R	ENSP00000233997:S130R	S	+	3	2	AZU1	781737	0.000000	0.05858	0.009000	0.14445	0.027000	0.11550	-3.672000	0.00397	-2.287000	0.00669	-1.036000	0.02392	AGC			0.682	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457472.2		NM_001700		A	830737	C	A	830737	3	1	21	1	0	0	0	0	1	0	0	0	1243	767	27	1	404	1	AZU1	19	830737	Missense_Mutation	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10		830737	58298246	49	1372											
APBA3	9546	broad.mit.edu	37	chr19	3754245	3754245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcgcgtgctggtgggcGggttccgttccgacaccagc	4	8	15	14	5	0	0	0	0	0	0	2	1	2	0	4	3	3	3	4	3	0	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:3754245G>T	ENST00000316757.3	-	4	910	c.710C>A	c.(709-711)cCg>cAg	p.P237Q	AC005954.4_ENST00000586503.1_RNA|AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	237	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTGGGCGGGTTCCGTTC	0.711																																					p.P237Q													.	APBA3	28		0			c.C710A												11	12	12					19																	3754245		2127	4185	6312	SO:0001583	missense	9546	exon4			GTGGGCGGGTTCC	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.710C>A	19.37:g.3754245G>T	ENSP00000315136:p.Pro237Gln		192	0.0052083333	1		174	0.02	3	NM_004886	26	0	0	O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564380	0.65651	.	.	ENSG00000011132	ENST00000316757	T	0.23348	1.91	4.63	4.63	0.57726	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67205	-0.5729	10	0.87932	D	0	.	16.4405	0.83900	0.0:0.0:1.0:0.0	.	237	O96018	APBA3_HUMAN	Q	237	ENSP00000315136:P237Q	ENSP00000315136:P237Q	P	-	2	0	APBA3	3705245	1.000000	0.71417	0.952000	0.39060	0.168000	0.22595	9.662000	0.98603	2.110000	0.64415	0.462000	0.41574	CCG			0.711	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453634.2				T	3754245	G	T	3754245	3	4	21	1	0	0	0	0	1	0	0	0	758	1116	39	1	1049	1	APBA3	19	3754245	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	2923508	3754245	55374738	50	1373											
CACNA1A	773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13423558	13423558	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatttttataaacatttcGgacataaagagtcctaagaa	17	13	5	6	1	0	2	0	0	0	2	2	3	1	3	1	1	2	0	1	1	8	8	rs372090886		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:13423558G>T	ENST00000360228.5	-	12	1592	c.1593C>A	c.(1591-1593)tcC>tcA	p.S531S	CACNA1A_ENST00000573710.2_Silent_p.S532S	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	532					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)	TAAACATTTCGGACATAAAGA	0.458																																					p.S532S													.	.			0			c.C1596A												74	71	72					19																	13423558		1852	4101	5953	SO:0001819	synonymous_variant	773	exon12			CATTTCGGACATA	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.1593C>A	19.37:g.13423558G>T			58	0	0		30	0.37	11	NM_001127221	1	1	1	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																					0.458	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104062.2		NM_000068		T	13423558	G	T	13423558	2	4	21	1	0	0	0	0	0	0	0	1	2540	1103	39	1		1	CACNA1A	19	13423558	Silent	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	9669313	13423558	45705425	51	1374											
ATP13A1	57130	mdanderson.org	37	chr19	19765412	19765412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctagagggtcacccacgaGggtgccgtcgtccagctgca	7	7	13	14	3	2	1	1	0	1	1	4	2	3	1	3	2	3	2	3	2	1	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:19765412G>T	ENST00000357324.6	-	13	1779	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	ATP13A1_ENST00000291503.5_Missense_Mutation_p.L467I|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	585						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCACCCACGAGGGTGCCGTCG	0.662																																					p.L585I	Esophageal Squamous(142;920 1789 9047 14684 24777)												.	.			0			c.C1753A												85	72	77					19																	19765412		2203	4300	6503	SO:0001583	missense	57130	exon13			CCACGAGGGTGCC	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1753C>A	19.37:g.19765412G>T	ENSP00000349877:p.Leu585Ile		50	0	0		48	0.06	3	NM_020410	51	0	0	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530814	0.27387	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.69806	-0.43;-0.43	5.19	2.68	0.31781	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	L	0.35723	1.085	0.54753	D	0.999987	P;B	0.36974	0.576;0.045	P;B	0.48571	0.582;0.012	T	0.53322	-0.8455	10	0.15952	T	0.53	-18.0577	10.2817	0.43543	0.1953:0.0:0.8047:0.0	.	585;467	Q9HD20;Q9HD20-2	AT131_HUMAN;.	I	467;585	ENSP00000291503:L467I;ENSP00000349877:L585I	ENSP00000291503:L467I	L	-	1	0	ATP13A1	19626412	0.992000	0.36948	0.984000	0.44739	0.975000	0.68041	2.024000	0.41049	1.196000	0.43129	0.462000	0.41574	CTC			0.662	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329005.1		NM_020410		T	19765412	G	T	19765412	3	4	21	1	0	0	0	0	1	0	0	0	1123	1000	35	3	1917	3	ATP13A1	19	19765412	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	6341854	19765412	39363571	52	1375											
ZNF493	284443	mdanderson.org	37	chr19	21587955	21587955	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgttgacatttagggatgtgGccatagaattctctctggag	9	13	12	7	1	2	2	0	1	2	1	3	4	2	4	1	3	0	1	1	3	3	5			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:21587955G>A	ENST00000355504.4	+	1	135				ZNF493_ENST00000594390.1_Missense_Mutation_p.A19T|ZNF493_ENST00000339914.6_Missense_Mutation_p.A19T|CTD-2561J22.3_ENST00000600810.1_5'Flank|ZNF493_ENST00000392288.2_Missense_Mutation_p.A19T|ZNF493_ENST00000596302.1_Missense_Mutation_p.A19T	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						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						TAGGGATGTGGCCATAGAATT	0.433																																					p.A19T													.	.			0			c.G55A												82	88	86					19																	21587955		2203	4300	6503	SO:0001627	intron_variant	284443	exon2			GATGTGGCCATAG	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.-132+7886G>A	19.37:g.21587955G>A			72	0	0		60	0.05	3	NM_145326	8	0	0	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	13.27	2.186464	0.38609	.	.	ENSG00000196268	ENST00000392288;ENST00000339914	T;T	0.03065	4.06;4.06	1.14	1.14	0.20703	.	.	.	.	.	T	0.09024	0.0223	M	0.65320	2	0.22112	N	0.999352	P;D	0.57899	0.476;0.981	B;P	0.55965	0.065;0.788	T	0.19778	-1.0295	9	0.56958	D	0.05	.	5.6173	0.17438	0.0:0.0:1.0:0.0	.	19;19	Q6ZR52-2;G5E974	.;.	T	19	ENSP00000376110:A19T;ENSP00000340651:A19T	ENSP00000340651:A19T	A	+	1	0	ZNF493	21379795	0.696000	0.27757	0.998000	0.56505	0.460000	0.32559	0.384000	0.20668	0.914000	0.36822	0.411000	0.27672	GCC			0.433	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000280563.1		NM_175910		A	21587955	G	A	21587955	1	1	21	0	1	0	0	0	0	0	0	0	17967	1203	42	2		2	ZNF493	19	21587955	Intron	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	1822543	21587955	37541028	53	1376											
ATP4A	495	broad.mit.edu;mdanderson.org	37	chr19	36041807	36041807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaggatgccgtagggcaggGggaccagccaccactggaac	10	4	16	11	1	0	1	0	1	0	0	0	4	0	4	4	5	3	2	4	5	2	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:36041807G>T	ENST00000262623.3	-	21	3036	c.3008C>A	c.(3007-3009)cCc>cAc	p.P1003H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	1003					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)	GTAGGGCAGGGGGACCAGCCA	0.627																																					p.P1003H													.	ATP4A	123		0			c.C3008A												69	62	64					19																	36041807		2203	4300	6503	SO:0001583	missense	495	exon21			GGCAGGGGGACCA		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.3008C>A	19.37:g.36041807G>T	ENSP00000262623:p.Pro1003His		89	0	0		87	0.07	6	NM_000704	0		0	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581501	0.86748	.	.	ENSG00000105675	ENST00000262623	D	0.95853	-3.83	5.02	5.02	0.67125	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000002	D	0.97192	0.9082	M	0.71206	2.165	0.54753	D	0.999982	D	0.55605	0.972	D	0.68192	0.956	D	0.97639	1.0147	10	0.87932	D	0	.	15.8667	0.79071	0.0:0.0:1.0:0.0	.	1003	P20648	ATP4A_HUMAN	H	1003	ENSP00000262623:P1003H	ENSP00000262623:P1003H	P	-	2	0	ATP4A	40733647	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.570000	0.98174	2.595000	0.87683	0.491000	0.48974	CCC			0.627	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109470.2		NM_000704		T	36041807	G	T	36041807	3	4	21	1	0	0	0	0	1	0	0	0	1145	1232	43	3	107	3	ATP4A	19	36041807	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	14453852	36041807	23087176	54	1377											
PAPL	390928	mdanderson.org	37	chr19	39589681	39589681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcccactggagtccccGtctggctgtgtttggagacc	4	10	15	12	1	1	1	0	0	1	1	2	3	2	2	4	5	0	2	4	5	0	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:39589681G>T	ENST00000331256.5	+	4	678	c.404G>T	c.(403-405)cGt>cTt	p.R135L	PAPL_ENST00000594229.1_Missense_Mutation_p.R135L	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		135						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)	p.R135H(1)									TGGAGTCCCCGTCTGGCTGTG	0.637																																					p.R135L													FLJ16165,colon,carcinoma,0,1	FLJ16165	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.G404T												46	51	49					19																	39589681		2203	4300	6503	SO:0001583	missense	0	exon4			GTCCCCGTCTGGC																												ENST00000331256.5:c.404G>T	19.37:g.39589681G>T	ENSP00000327557:p.Arg135Leu		36	0	0		45	0.07	3	NM_001004318	0		0	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060825	0.55432	.	.	ENSG00000183760	ENST00000331256	D	0.87103	-2.21	5.14	4.1	0.47936	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	M	0.86651	2.83	0.49798	D	0.999829	B	0.17852	0.024	B	0.22880	0.042	D	0.84916	0.0851	10	0.40728	T	0.16	-10.0438	11.7067	0.51601	0.088:0.0:0.912:0.0	.	135	Q6ZNF0	PAPL_HUMAN	L	135	ENSP00000327557:R135L	ENSP00000327557:R135L	R	+	2	0	AC011443.1	44281521	0.995000	0.38212	0.740000	0.30986	0.875000	0.50365	2.325000	0.43840	1.142000	0.42291	0.655000	0.94253	CGT			0.637	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463810.1				T	39589681	G	T	39589681	3	4	21	1	0	0	0	0	1	0	0	0	11444	1145	40	1	414	1	PAPL	19	39589681	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	3547874	39589681	19539302	55	1378											
SNRPB	6628	hgsc.bcm.edu	37	chr20	2442426	2442426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggtgggcgcattccCgggggagggggccctgtaag	4	7	20	10	2	0	0	0	0	0	0	1	1	1	1	3	7	0	2	3	7	1	3	rs371293377		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr20:2442426C>T	ENST00000438552.2	-	7	861	c.699G>A	c.(697-699)ccG>ccA	p.P233P	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	233	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GGCGCATTCCCGGGGGAGGGG	0.552																																					p.P233P													SNRPB,right_upper_lobe,carcinoma,-1,1	SNRPB	-1	1	0			c.G699A							C	,	0,4406		0,0,2203	48	52	51		,699	0.4	1	20		51	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,coding-synonymous	SNRPB	NM_003091.3,NM_198216.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	,233/241	2442426	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6628	exon7			CATTCCCGGGGGA		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.699G>A	20.37:g.2442426C>T			82	0	0		91	0.04	4	NM_198216	314	0	0	Q15490|Q6IB35|Q9UIS5	Silent	SNP	ENST00000438552.2	37	CCDS13026.1																																																																																					0.552	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000077585.2				T	2442426	C	T	2442426	2	4	21	1	0	0	0	0	0	0	0	1	14884	639	23	1		1	SNRPB	20	2442426	Silent	SNP	C	TCGA-2G-AAG6-01A-11D-A42Y-10		2442426	60583094	56	1379											
SFRS6	6431	mdanderson.org	37	chr20	42087119	42087119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcccggggcccgcgtcgcGatcgcgacggctacagctac	6	4	14	17	9	0	0	0	0	0	0	2	2	0	0	2	3	3	2	2	3	2	2			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr20:42087119G>T	ENST00000244020.3	+	2	332	c.226G>T	c.(226-228)Gat>Tat	p.D76Y		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	76					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|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)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCCGCGTCGCGATCGCGACGG	0.741																																					p.D76Y													.	.			0			c.G226T												3	3	3					20																	42087119		1833	3704	5537	SO:0001583	missense	6431	exon2			CGTCGCGATCGCG	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.226G>T	20.37:g.42087119G>T	ENSP00000244020:p.Asp76Tyr		21	0	0		18	0.11	2	NM_006275	102	0	0	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114703	0.77210	.	.	ENSG00000124193	ENST00000244020	T	0.74106	-0.81	3.59	3.59	0.41128	Nucleotide-binding, alpha-beta plait (1);	0.117031	0.53938	D	0.000047	T	0.74230	0.3689	M	0.76574	2.34	0.80722	D	1	B;B	0.31026	0.028;0.304	B;B	0.32583	0.026;0.148	T	0.77832	-0.2441	10	0.56958	D	0.05	.	14.2152	0.65788	0.0:0.0:1.0:0.0	.	76;76	Q13247;A8K588	SRSF6_HUMAN;.	Y	76	ENSP00000244020:D76Y	ENSP00000244020:D76Y	D	+	1	0	SRSF6	41520533	1.000000	0.71417	0.956000	0.39512	0.388000	0.30384	8.799000	0.91895	1.842000	0.53543	0.558000	0.71614	GAT			0.741	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079292.1		NM_006275		T	42087119	G	T	42087119	3	4	21	1	0	0	0	0	1	0	0	0	14204	1058	37	1	232	1	SFRS6	20	42087119	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	39644693	42087119	20938401	57	1380											
COL20A1	57642	mdanderson.org	37	chr20	61951525	61951525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaggctggccaaggccagGggcccccggagcagttcggc	6	3	19	13	2	0	0	0	0	0	0	1	2	0	2	4	8	1	3	4	8	1	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr20:61951525G>T	ENST00000358894.6	+	24	3151	c.3051G>T	c.(3049-3051)agG>agT	p.R1017S	COL20A1_ENST00000326996.6_Missense_Mutation_p.R1017S|COL20A1_ENST00000435874.1_Missense_Mutation_p.R1024S|COL20A1_ENST00000422202.1_Missense_Mutation_p.R1024S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1017	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)					CCAAGGCCAGGGGCCCCCGGA	0.736																																					p.R1017S													.	.			0			c.G3051T												6	7	7					20																	61951525		1814	3910	5724	SO:0001583	missense	57642	exon24			GGCCAGGGGCCCC	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.3051G>T	20.37:g.61951525G>T	ENSP00000351767:p.Arg1017Ser		26	0	0		24	0.08	2	NM_020882	0		0	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205617	0.58234	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	T;T;T;T;T;D	0.90197	4.44;4.44;4.44;4.44;4.44;-2.63	3.67	0.5	0.16919	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.132073	0.47093	D	0.000253	D	0.90580	0.7047	M	0.77103	2.36	0.33680	D	0.611977	D;D	0.58268	0.982;0.969	P;P	0.53450	0.726;0.536	D	0.88729	0.3235	10	0.66056	D	0.02	.	2.9906	0.05982	0.3647:0.2593:0.376:0.0	.	1024;1017	Q9P218-2;Q9P218	.;COKA1_HUMAN	S	1017;1017;1024;1024;120;25	ENSP00000351767:R1017S;ENSP00000323077:R1017S;ENSP00000408690:R1024S;ENSP00000414753:R1024S;ENSP00000410799:R120S;ENSP00000406345:R25S	ENSP00000323077:R1017S	R	+	3	2	COL20A1	61421970	0.578000	0.26717	0.992000	0.48379	0.896000	0.52359	-0.232000	0.09055	0.286000	0.22352	0.462000	0.41574	AGG			0.736	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000144595.2		NM_020882		T	61951525	G	T	61951525	3	4	21	1	0	0	0	0	1	0	0	0	3681	1223	43	3	3141	3	COL20A1	20	61951525	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10	19864406	61951525	1073995	58	1381											
TMPRSS3	64699	broad.mit.edu	37	chr21	43800255	43800255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccccccatcctgacGtccagcacacttttccatcg	6	10	7	18	2	0	1	0	1	0	0	4	1	3	1	6	1	1	1	6	1	0	2	rs200002841		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr21:43800255G>T	ENST00000291532.3	-	10	1974	c.1019C>A	c.(1018-1020)aCg>aAg	p.T340K	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.T340K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.T424K|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.T338K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	340	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCATCCTGACGTCCAGCACAC	0.572																																					p.T340K													.	TMPRSS3	40		0			c.C1019A												67	58	61					21																	43800255		2203	4300	6503	SO:0001583	missense	64699	exon10			CCTGACGTCCAGC	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1019C>A	21.37:g.43800255G>T	ENSP00000291532:p.Thr340Lys		121	0.0082644628	1		154	0.03	5	NM_001256317	2	0	0	D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576048	0.65878	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399	D;D;D;D	0.88741	-2.42;-1.53;-1.53;-2.42	4.37	4.37	0.52481	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.149194	0.42821	D	0.000650	D	0.90154	0.6923	M	0.73430	2.235	0.34153	D	0.667771	P;P;D	0.56035	0.823;0.867;0.974	P;P;P	0.53035	0.535;0.499;0.716	D	0.92291	0.5841	9	.	.	.	.	6.7313	0.23385	0.2075:0.0:0.7925:0.0	.	340;340;338	P57727-5;P57727;B7WPR2	.;TMPS3_HUMAN;.	K	340;340;338;424	ENSP00000291532:T340K;ENSP00000411013:T340K;ENSP00000381442:T338K;ENSP00000369762:T424K	.	T	-	2	0	TMPRSS3	42673324	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	5.442000	0.66575	2.134000	0.65973	0.655000	0.94253	ACG			0.572	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000195347.1				T	43800255	G	T	43800255	3	4	21	1	0	0	0	0	1	0	0	0	16271	1145	40	1	361	1	TMPRSS3	21	43800255	Missense_Mutation	SNP	G	TCGA-2G-AAG6-01A-11D-A42Y-10		43800255	4329640	59	1382											
FAM120C	54954	hgsc.bcm.edu	37	chrX	54209318	54209318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggggcggcggcggcggcAgcggagggtgcagcccgggc	4	1	25	11	6	0	0	0	0	0	0	0	2	0	1	1	9	3	2	1	9	0	0	rs199506922		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chrX:54209318A>G	ENST00000375180.2	-	1	370	c.314T>C	c.(313-315)cTg>cCg	p.L105P	FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000477084.1_Missense_Mutation_p.L105P|FAM120C_ENST00000328235.4_Missense_Mutation_p.L105P	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	105							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						CGGCGGCGGCAGCGGAGGGTG	0.746													a|||	2	0.000529801	0	0	3775	,	,		7371	0		0.001	False		,,,				2504	0.001				p.L105P													.	.			0			c.T314C												3	4	3					X																	54209318		1477	2706	4183	SO:0001583	missense	54954	exon1			GGCGGCAGCGGAG	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.314T>C	X.37:g.54209318A>G	ENSP00000364324:p.Leu105Pro		11	0	0		17	0.53	9	NM_017848	0		0	B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	a	9.339	1.062497	0.19987	.	.	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.47869	1.82;1.36;0.83	2.73	1.45	0.22620	.	0.278989	0.27531	N	0.018943	T	0.19327	0.0464	N	0.03608	-0.345	0.47476	D	0.999433	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.03008	-1.1083	10	0.32370	T	0.25	0.3639	4.7246	0.12935	0.4324:0.0:0.5676:0.0	.	105;105;105	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	P	105	ENSP00000364324:L105P;ENSP00000329896:L105P;ENSP00000420718:L105P	ENSP00000329896:L105P	L	-	2	0	FAM120C	54226043	0.970000	0.33590	0.968000	0.41197	0.426000	0.31534	0.267000	0.18552	0.262000	0.21774	0.378000	0.23410	CTG			0.746	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056795.2		NM_017848		G	54209318	A	G	54209318	3	3	21	1	0	0	0	0	1	0	0	0	5428	188	7	4	3062	4	FAM120C	23	54209318	Missense_Mutation	SNP	A	TCGA-2G-AAG6-01A-11D-A42Y-10		54209318	101061242	60	1383											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722643	64722643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatatccatcctggggcaAccccccagccaggccgtgcc	8	5	9	19	1	0	0	0	0	0	0	2	0	2	0	9	3	3	1	9	3	3	1			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chrX:64722643A>C	ENST00000338957.4	+	5	2132	c.2065A>C	c.(2065-2067)Acc>Ccc	p.T689P	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.T678P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	689							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGGGGCAACCCCCCAGCC	0.602																																					p.T689P													.	ZC3H12B	144		0			c.A2065C												39	41	40					X																	64722643		1979	4143	6122	SO:0001583	missense	340554	exon5			GGGGCAACCCCCC	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2065A>C	X.37:g.64722643A>C	ENSP00000340839:p.Thr689Pro		65	0.1692307692	11		153	0.14	21	NM_001010888	1	0	0	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	A	5.107	0.205381	0.09704	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.24538	1.85;1.85	5.79	0.605	0.17553	.	0.473927	0.24861	N	0.035007	T	0.16981	0.0408	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15150	-1.0447	10	0.45353	T	0.12	-20.4966	5.4048	0.16316	0.5622:0.2822:0.1556:0.0	.	678	Q5HYM0	ZC12B_HUMAN	P	689;678;625	ENSP00000340839:T689P;ENSP00000408077:T678P	ENSP00000218172:T625P	T	+	1	0	ZC3H12B	64639368	0.691000	0.27709	0.100000	0.21137	0.771000	0.43674	1.427000	0.34881	-0.017000	0.14103	-0.478000	0.04885	ACC			0.602	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378734.2		XM_293334		C	64722643	A	C	64722643	3	2	21	1	0	0	0	0	1	0	0	0	17585	43	2	4	2083	4	ZC3H12B	23	64722643	Missense_Mutation	SNP	A	TCGA-2G-AAG6-01A-11D-A42Y-10	10513325	64722643	90547917	61	1384											
PANK4	55229	hgsc.bcm.edu;bcgsc.ca	37	chr1	2453203	2453203	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttggcgactttgtgctgtAccgttgaatagtaggccagc	7	12	12	10	2	0	1	0	1	0	0	0	2	0	1	3	2	3	4	3	2	4	6			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr1:2453203A>G	ENST00000378466.3	-	2	173	c.161T>C	c.(160-162)gTa>gCa	p.V54A	PANK4_ENST00000435556.3_Missense_Mutation_p.V54A|PANK4_ENST00000491212.1_5'UTR	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	54					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTTGTGCTGTACCGTTGAATA	0.622																																					p.V54A													.	.			0			c.T161C												168	160	163					1																	2453203		2203	4300	6503	SO:0001583	missense	55229	exon2			TGCTGTACCGTTG	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.161T>C	1.37:g.2453203A>G	ENSP00000367727:p.Val54Ala		66	0	0		69	0.06	4	NM_018216	25	0	0	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	CCDS42.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.150163	0.57151	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99494	-6.01;-3.82	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	D	0.98836	0.9607	L	0.53249	1.67	0.80722	D	1	D;D	0.60160	0.973;0.987	P;P	0.58130	0.833;0.833	D	0.99965	1.1835	10	0.07813	T	0.8	-31.6293	13.6019	0.62024	1.0:0.0:0.0:0.0	.	54;54	E9PHT6;Q9NVE7	.;PANK4_HUMAN	A	54	ENSP00000367727:V54A;ENSP00000421433:V54A	ENSP00000367727:V54A	V	-	2	0	PANK4	2443063	1.000000	0.71417	0.737000	0.30932	0.107000	0.19398	8.347000	0.90062	1.817000	0.53016	0.460000	0.39030	GTA			0.622	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002082.1				G	2453203	A	G	2453203	3	3	22	1	0	0	0	0	1	0	0	0	11436	391	14	4	2232	4	PANK4	1	2453203	Missense_Mutation	SNP	A	TCGA-2G-AAG7-01A-11D-A42Y-10		2453203	246797418	1	1385											
CLCN6	1185	mdanderson.org	37	chr1	11884555	11884555	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagggctcttcgtggAgaaggaaggccccatgatcc	8	7	13	13	1	1	2	0	1	1	1	3	4	2	3	4	4	1	1	4	4	2	1	rs198400		TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr1:11884555A>T	ENST00000346436.6	+	8	645	c.593A>T	c.(592-594)gAg>gTg	p.E198V	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.E176V|CLCN6_ENST00000376496.3_Missense_Mutation_p.E198V|CLCN6_ENST00000312413.6_Missense_Mutation_p.E198V	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	198			E -> G (in dbSNP:rs198400). {ECO:0000269|PubMed:10500249, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7584044, ECO:0000269|PubMed:8543009, ECO:0000269|PubMed:9224655, ECO:0000269|Ref.8}.		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)		CTCTTCGTGGAGAAGGAAGGC	0.592																																					p.E198V													.	.			0			c.A593T												70	66	67					1																	11884555		2203	4300	6503	SO:0001583	missense	1185	exon8			TCGTGGAGAAGGA	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.593A>T	1.37:g.11884555A>T	ENSP00000234488:p.Glu198Val		54	0	0		66	0.05	3	NM_001286	7	0	0	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900806	0.52227	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.79	5.79	0.91817	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.82282	0.5003	N	0.08118	0	0.30059	N	0.811059	B;B;P;P;B	0.40250	0.003;0.413;0.709;0.528;0.004	B;B;B;B;B	0.31751	0.001;0.131;0.118;0.135;0.001	T	0.81747	-0.0791	10	0.87932	D	0	-21.8217	14.207	0.65741	0.0714:0.0:0.9286:0.0	.	176;198;198;198;198	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	V	198;198;176;198;198;198;198	ENSP00000308367:E198V;ENSP00000234488:E198V;ENSP00000365670:E176V;ENSP00000365679:E198V	ENSP00000308367:E198V	E	+	2	0	CLCN6	11807142	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	7.663000	0.83820	1.462000	0.47948	-0.215000	0.12644	GAG			0.592	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006639.2		NM_001286		T	11884555	A	T	11884555	3	4	22	1	0	0	0	0	1	0	0	0	3469	304	11	5	623	5	CLCN6	1	11884555	Missense_Mutation	SNP	A	TCGA-2G-AAG7-01A-11D-A42Y-10	9431352	11884555	237366066	2	1386											
SPEN	23013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	16254718	16254718	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagagttttattcagaatgGgaaacttaccaaggagacta	16	10	10	5	0	1	3	1	0	0	3	1	6	1	4	1	2	2	1	1	2	6	5			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr1:16254718G>A	ENST00000375759.3	+	11	2187	c.1983G>A	c.(1981-1983)tgG>tgA	p.W661*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	661	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATTCAGAATGGGAAACTTACC	0.428																																					p.W661X													.	.			0			c.G1983A												126	123	124					1																	16254718		2203	4300	6503	SO:0001587	stop_gained	23013	exon11			AGAATGGGAAACT		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1983G>A	1.37:g.16254718G>A	ENSP00000364912:p.Trp661*		140	0	0		126	0.29	36	NM_015001	8	0.38	3	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	39	7.823853	0.98510	.	.	ENSG00000065526	ENST00000375759	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.24	18.1431	0.89647	0.0:0.0:1.0:0.0	.	.	.	.	X	661	.	ENSP00000364912:W661X	W	+	3	0	SPEN	16127305	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.063000	0.71162	2.514000	0.84764	0.563000	0.77884	TGG			0.428	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025993.1		NM_015001		A	16254718	G	A	16254718	4	1	22	1	0	0	0	0	0	1	0	0	15061	1241	43	3	2025	3	SPEN	1	16254718	Nonsense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	4370163	16254718	232995903	3	1387											
CAMK2N1	55450	mdanderson.org	37	chr1	20811816	20811816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagatctggcccacgtcGccgccgtcgccgtaggggct	6	6	15	14	6	1	2	0	0	1	2	3	3	1	2	4	3	0	2	4	3	2	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr1:20811816G>A	ENST00000375078.3	-	1	897	c.57C>T	c.(55-57)ggC>ggT	p.G19G	CAMK2N1_ENST00000489020.1_5'Flank	NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	19						cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	calcium-dependent protein kinase inhibitor activity (GO:0008427)			lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GGCCCACGTCGCCGCCGTCGC	0.721																																					p.G19G													.	.			0			c.C57T												13	16	15					1																	20811816		2186	4278	6464	SO:0001819	synonymous_variant	55450	exon1			CACGTCGCCGCCG	AY204901	CCDS207.1	1p36.12	2008-02-05			ENSG00000162545	ENSG00000162545			24190	protein-coding gene	gene with protein product		614986				12477932	Standard	NM_018584		Approved	CaMKIINalpha	uc001bdh.3	Q7Z7J9	OTTHUMG00000002837	ENST00000375078.3:c.57C>T	1.37:g.20811816G>A			44	0	0		38	0.08	3	NM_018584	4	0	0		Silent	SNP	ENST00000375078.3	37	CCDS207.1																																																																																					0.721	CAMK2N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007949.1		NM_018584		A	20811816	G	A	20811816	2	1	22	1	0	0	0	0	0	0	0	1	2605	1074	38	1		1	CAMK2N1	1	20811816	Silent	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	4557098	20811816	228438805	4	1388											
UBXN11	91544	mdanderson.org	37	chr1	26624522	26624522	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaacttcctcgtcatgaaGgccatcagctccgagtcatg	10	9	8	14	2	3	1	3	1	0	0	6	2	5	1	3	1	2	1	3	1	2	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr1:26624522G>T	ENST00000374222.1	-	6	695	c.231C>A	c.(229-231)gcC>gcA	p.A77A	UBXN11_ENST00000374221.3_Silent_p.A77A|UBXN11_ENST00000374217.2_Silent_p.A44A|UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000436301.2_Silent_p.A2A|UBXN11_ENST00000357089.4_Silent_p.A44A			Q5T124	UBX11_HUMAN	UBX domain protein 11	77						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCGTCATGAAGGCCATCAGCT	0.607																																					p.A77A													.	.			0			c.C231A												62	62	62					1																	26624522		2047	4218	6265	SO:0001819	synonymous_variant	91544	exon6			CATGAAGGCCATC	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.231C>A	1.37:g.26624522G>T			61	0	0		46	0.07	3	NM_183008	22	0	0	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	CCDS41288.1																																																																																					0.607	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000009500.1		NM_145345		T	26624522	G	T	26624522	2	4	22	1	0	0	0	0	0	0	0	1	16937	987	35	3		3	UBXN11	1	26624522	Silent	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	5812706	26624522	222626099	5	1389											
TCHHL1	126637	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	152057679	152057679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggcctgatgcctgggCtatctgaacttgcttttgat	5	15	11	10	0	2	3	0	3	2	0	2	3	2	3	2	2	3	2	2	2	2	4			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr1:152057679C>G	ENST00000368806.1	-	3	2543	c.2479G>C	c.(2479-2481)Gcc>Ccc	p.A827P		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	827							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GATGCCTGGGCTATCTGAACT	0.463																																					p.A827P													.	.			0			c.G2479C												288	254	266					1																	152057679		2203	4300	6503	SO:0001583	missense	126637	exon3			CCTGGGCTATCTG		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2479G>C	1.37:g.152057679C>G	ENSP00000357796:p.Ala827Pro		209	0	0		182	0.05	9	NM_001008536	0		0	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	14.59	2.579750	0.46006	.	.	ENSG00000182898	ENST00000368806	T	0.26373	1.74	4.56	0.0971	0.14493	.	1.781760	0.03794	N	0.263353	T	0.07052	0.0179	N	0.24115	0.695	0.09310	N	1	P	0.44090	0.826	P	0.45037	0.467	T	0.09818	-1.0657	10	0.32370	T	0.25	5.6919	0.8459	0.01161	0.1895:0.4059:0.184:0.2205	.	827	Q5QJ38	TCHL1_HUMAN	P	827	ENSP00000357796:A827P	ENSP00000357796:A827P	A	-	1	0	TCHHL1	150324303	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	-0.242000	0.08928	0.922000	0.37019	0.591000	0.81541	GCC			0.463	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036638.2		XM_060104		G	152057679	C	G	152057679	3	3	22	1	0	0	0	0	1	0	0	0	15724	797	28	5	239	5	TCHHL1	1	152057679	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	125433157	152057679	97192942	6	1390											
LCE3C	353144	mdanderson.org	37	chr1	152573341	152573341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctaagctccgggggctgtgGccccagttctgaaagtggct	6	10	14	11	1	2	1	0	1	2	0	3	1	3	1	3	4	1	4	3	4	2	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr1:152573341G>T	ENST00000333881.3	+	1	204	c.134G>T	c.(133-135)gGc>gTc	p.G45V		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	45					keratinization (GO:0031424)					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		GGGGGCTGTGGCCCCAGTTCT	0.622																																					p.G45V													.	.			0			c.G134T												66	60	63					1																	152573341		1822	2738	4560	SO:0001583	missense	353144	exon1			GCTGTGGCCCCAG	BI670516	CCDS1015.1	1q21.3	2008-02-05		2004-10-15	ENSG00000244057	ENSG00000244057		"Late cornified envelopes"	16612	protein-coding gene	gene with protein product		612615	"small proline rich-like (epidermal differentiation complex) 3A"	SPRL3A		11698679	Standard	NM_178434		Approved	LEP15	uc001fac.2	Q5T5A8	OTTHUMG00000014403	ENST00000333881.3:c.134G>T	1.37:g.152573341G>T	ENSP00000334644:p.Gly45Val		67	0	0		42	0.07	3	NM_178434	0		0	A1L420	Missense_Mutation	SNP	ENST00000333881.3	37	CCDS1015.1	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717433	0.03182	.	.	ENSG00000244057	ENST00000333881	T	0.03801	3.8	3.25	1.21	0.21127	.	.	.	.	.	T	0.01254	0.0041	.	.	.	0.09310	N	0.999997	B	0.16603	0.018	B	0.17433	0.018	T	0.47433	-0.9118	8	0.87932	D	0	.	3.4264	0.07412	0.1467:0.0:0.5899:0.2634	.	45	Q5T5A8	LCE3C_HUMAN	V	45	ENSP00000334644:G45V	ENSP00000334644:G45V	G	+	2	0	LCE3C	150839965	0.025000	0.19082	0.025000	0.17156	0.425000	0.31504	0.126000	0.15769	0.063000	0.16370	0.313000	0.20887	GGC			0.622	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040061.2		NM_178434		T	152573341	G	T	152573341	3	4	22	1	0	0	0	0	1	0	0	0	8686	1203	42	2	136	2	LCE3C	1	152573341	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	515662	152573341	96677280	7	1391											
ARHGAP30	257106	mdanderson.org	37	chr1	161026274	161026274	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgcagtgaatgtcttggagGtaaacatcccgacgcaggtc	11	8	12	10	3	1	1	0	1	1	0	3	3	2	2	1	3	1	3	1	3	3	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr1:161026274G>T	ENST00000368013.3	-	3	569	c.249C>A	c.(247-249)taC>taA	p.Y83*	ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.Y83*|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	83	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)			TGTCTTGGAGGTAAACATCCC	0.572																																					p.Y83X													.	.			0			c.C249A												84	75	78					1																	161026274		2203	4300	6503	SO:0001587	stop_gained	257106	exon3			TTGGAGGTAAACA	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.249C>A	1.37:g.161026274G>T	ENSP00000356992:p.Tyr83*		67	0	0		73	0.05	4	NM_181720	2	0	0	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Nonsense_Mutation	SNP	ENST00000368013.3	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	37	6.558943	0.97663	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	.	.	.	5.34	2.41	0.29592	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5066	0.39051	0.2383:0.0:0.7617:0.0	.	.	.	.	X	83	.	ENSP00000356992:Y83X	Y	-	3	2	ARHGAP30	159292898	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.125000	0.42016	0.236000	0.21180	-0.145000	0.13849	TAC			0.572	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077090.2		NM_181720		T	161026274	G	T	161026274	4	4	22	1	0	0	0	0	0	1	0	0	879	1256	44	3	3096	3	ARHGAP30	1	161026274	Nonsense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	8452933	161026274	88224347	8	1392											
MSH2	4436	mdanderson.org	37	chr2	47643474	47643474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctctcagtctctggctGccttgctgaataagtgtaaa	8	13	10	10	0	2	1	1	1	2	0	4	1	2	1	1	2	2	4	1	2	4	3			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr2:47643474G>T	ENST00000233146.2	+	6	1205	c.982G>T	c.(982-984)Gcc>Tcc	p.A328S	MSH2_ENST00000543555.1_Missense_Mutation_p.A262S|MSH2_ENST00000406134.1_Missense_Mutation_p.A328S	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	328			A -> P (shows significantly decreased repair efficiency when associated with variant Ser-127; presumed to enhance cancer risk considerably when associated with variant Ser-127).		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.?(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		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTCTCTGGCTGCCTTGCTGAA	0.408			"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																												p.A328S			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	MSH2,caecum,carcinoma,-2,2	MSH2	-2	2	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)	c.G982T												148	150	149					2																	47643474		2203	4300	6503	SO:0001583	missense	4436	exon6	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	CTGGCTGCCTTGC	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.982G>T	2.37:g.47643474G>T	ENSP00000233146:p.Ala328Ser		66	0	0		44	0.07	3	NM_000251	301	0.01	2	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084253	0.76642	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792;ENST00000413880	D;D;D	0.90900	-2.75;-2.75;-2.75	5.62	5.62	0.85841	DNA mismatch repair protein MutS, core (3);	0.202214	0.51477	D	0.000085	T	0.82148	0.4974	N	0.03983	-0.305	0.50632	D	0.999885	B;B;B	0.19331	0.004;0.035;0.006	B;B;B	0.19666	0.007;0.026;0.014	T	0.77696	-0.2491	10	0.72032	D	0.01	-6.2078	19.6637	0.95885	0.0:0.0:1.0:0.0	.	262;328;328	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	S	328;262;328;328;328;328;328;328;114	ENSP00000233146:A328S;ENSP00000442697:A262S;ENSP00000384199:A328S	ENSP00000233146:A328S	A	+	1	0	MSH2	47496978	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.716000	0.98752	2.646000	0.89796	0.467000	0.42956	GCC			0.408	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250805.3				T	47643474	G	T	47643474	3	4	22	1	0	0	0	0	1	0	0	0	9886	1319	46	2	1004	2	MSH2	2	47643474	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		47643474	195555899	9	1393											
DCTN1	1639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	74592776	74592776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcacattggcctcacttagCtcctctccctggacaaggac	8	9	8	16	1	2	0	1	0	1	0	4	2	3	2	3	3	1	2	3	3	2	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr2:74592776C>G	ENST00000361874.3	-	25	3212	c.2895G>C	c.(2893-2895)gaG>gaC	p.E965D	DCTN1_ENST00000394003.3_Missense_Mutation_p.E958D|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000407639.2_Missense_Mutation_p.E831D|DCTN1_ENST00000409438.1_Missense_Mutation_p.E831D|DCTN1_ENST00000409567.3_Missense_Mutation_p.E945D|DCTN1_ENST00000409868.1_Missense_Mutation_p.E948D|DCTN1_ENST00000409240.1_Missense_Mutation_p.E928D|RP11-287D1.3_ENST00000451608.2_5'Flank	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	965					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTCACTTAGCTCCTCTCCCT	0.562																																					p.E965D													.	.			0			c.G2895C												93	83	86					2																	74592776		2203	4300	6503	SO:0001583	missense	1639	exon25			ACTTAGCTCCTCT		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2895G>C	2.37:g.74592776C>G	ENSP00000354791:p.Glu965Asp		79	0	0		90	0.21	19	NM_004082	377	0.21	81	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466114	0.63625	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.83	0.0692	0.14373	.	0.000000	0.43747	D	0.000537	D	0.87216	0.6122	M	0.66939	2.045	0.58432	D	0.999999	P;D;D;P;P;D	0.89917	0.849;1.0;0.984;0.791;0.886;0.99	P;D;D;P;P;D	0.91635	0.461;0.999;0.935;0.51;0.787;0.971	T	0.83158	-0.0100	10	0.32370	T	0.25	-12.8781	10.466	0.44607	0.0:0.7027:0.0:0.2973	.	945;928;965;958;831;831	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	D	965;958;948;831;831;928;948;945	ENSP00000354791:E965D;ENSP00000377571:E958D;ENSP00000384844:E831D;ENSP00000387270:E831D;ENSP00000386406:E928D;ENSP00000387327:E948D;ENSP00000386843:E945D	ENSP00000354791:E965D	E	-	3	2	DCTN1	74446284	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	1.681000	0.37618	-0.031000	0.13781	-0.258000	0.10820	GAG			0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252227.3		NM_004082		G	74592776	C	G	74592776	3	3	22	1	0	0	0	0	1	0	0	0	4308	796	28	5	973	5	DCTN1	2	74592776	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	26949302	74592776	168606597	10	1394											
KDM3A	55818	mdanderson.org	37	chr2	86711213	86711213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtagacctagttaattGtaggaccaatgaaatcatca	16	10	9	6	0	2	2	2	1	0	1	2	4	2	4	2	2	0	3	2	2	7	5			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr2:86711213G>T	ENST00000409556.1	+	20	3391	c.3026G>T	c.(3025-3027)tGt>tTt	p.C1009F	KDM3A_ENST00000542128.1_Missense_Mutation_p.C957F|KDM3A_ENST00000312912.5_Missense_Mutation_p.C1009F|KDM3A_ENST00000409064.1_Missense_Mutation_p.C1009F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1009					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						CTAGTTAATTGTAGGACCAAT	0.423																																					p.C1009F	NSCLC(96;1150 1523 6936 46253 49736)												.	.			0			c.G3026T												116	116	116					2																	86711213		2203	4300	6503	SO:0001583	missense	55818	exon19			TTAATTGTAGGAC	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.3026G>T	2.37:g.86711213G>T	ENSP00000386660:p.Cys1009Phe		86	0	0		106	0.05	5	NM_001146688	56	0	0	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687731	0.88639	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;0.999	D	0.86907	0.2058	10	0.66056	D	0.02	.	19.0872	0.93209	0.0:0.0:1.0:0.0	.	957;1009	F5H070;Q9Y4C1	.;KDM3A_HUMAN	F	1009;1009;1009;1009;957	ENSP00000386660:C1009F;ENSP00000323659:C1009F;ENSP00000386516:C1009F;ENSP00000438324:C957F	ENSP00000323659:C1009F	C	+	2	0	KDM3A	86564724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.752000	0.94435	0.655000	0.94253	TGT			0.423	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252522.2		NM_018433		T	86711213	G	T	86711213	3	4	22	1	0	0	0	0	1	0	0	0	8141	1377	48	3	3096	3	KDM3A	2	86711213	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	12118437	86711213	156488160	11	1395											
CSPG5	10675	broad.mit.edu	37	chr3	47619395	47619395	+	Frame_Shift_Del	DEL	C	C	-																															cttcaccagctcttcggcctCaaccgcgctgcccgcctcac																										TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr3:47619395delC	ENST00000383738.2	-	2	2219	c.121delG	c.(121-123)gagfs	p.E41fs	CSPG5_ENST00000465441.1_5'UTR|CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000264723.4_Frame_Shift_Del_p.E41fs	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	41					axon regeneration (GO:0031103)|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)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTTCGGCCTCAACCGCGCTG	0.761																																					p.E41fs													.	CSPG5	46		0			c.121delG												4	5	5					3																	47619395		1718	3469	5187	SO:0001589	frameshift_variant	10675	exon2			CGGCCTCAACCGC	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.121delG	3.37:g.47619395delC	ENSP00000373244:p.Glu41fs		6	0	0		6	0.33	2	NM_006574	2	0	0	Q71M39|Q71M40	Frame_Shift_Del	DEL	ENST00000383738.2	37	CCDS56253.1																																																																																					0.761	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257489.1		NM_006574		-	47619395	C	-	47619395	7	5	22	1	0	1	0	1	0	0	0	0	3963	835	29	0	1514	0	CSPG5	3	47619395	Frame_Shift_Del	DEL	C	TCGA-2G-AAG7-01A-11D-A42Y-10		47619395	150403035	12	1396											
BAP1	51533	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	52443757	52443757	+	5'Flank	DEL	G	G	-																															ttccacgagcagggtgaagaGgcctgggtggggcgacaaga																										TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr3:52443757delG	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Frame_Shift_Del_p.L14fs|BAP1_ENST00000296288.5_Frame_Shift_Del_p.L14fs	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(2)		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)		AGGGTGAAGAGGCCTGGGTGG	0.701																																					p.L14fs													.	BAP1	371		2	Unknown(2)	eye(2)	c.41delT												29	35	33					3																	52443757		2203	4298	6501	SO:0001631	upstream_gene_variant	8314	exon2			TGAAGAGGCCTGG	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.52443757delG	Exception_encountered		42	0	0		51	0.33	17	NM_004656	25	0	0	K4DI82	Frame_Shift_Del	DEL	ENST00000327906.3	37	CCDS2854.1																																																																																					0.701	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351155.1		NM_016483		-	52443757	G	-	52443757	6	5	22	0	1	1	0	1	0	0	0	0	1311	1000	35	0		0	BAP1	3	52443757	5'Flank	DEL	G	TCGA-2G-AAG7-01A-11D-A42Y-10	4824362	52443757	145578673	13	1397											
TP63	8626	mdanderson.org	37	chr3	189586427	189586427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcttgcccaggaagaGacaggaaggcggatgaagat	12	7	15	7	1	1	3	0	1	1	2	1	7	1	6	1	4	2	1	1	4	3	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr3:189586427G>T	ENST00000264731.3	+	8	1140	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	TP63_ENST00000320472.5_Missense_Mutation_p.D351Y|TP63_ENST00000456148.1_Missense_Mutation_p.D257Y|TP63_ENST00000382063.4_Missense_Mutation_p.D266Y|TP63_ENST00000449992.1_Missense_Mutation_p.D172Y|TP63_ENST00000392463.2_Missense_Mutation_p.D257Y|TP63_ENST00000437221.1_Missense_Mutation_p.D257Y|TP63_ENST00000392460.3_Missense_Mutation_p.D351Y|TP63_ENST00000418709.2_Missense_Mutation_p.D351Y|TP63_ENST00000354600.5_Missense_Mutation_p.D257Y|TP63_ENST00000440651.2_Missense_Mutation_p.D351Y|TP63_ENST00000392461.3_Missense_Mutation_p.D257Y	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	351			D -> G (in EEC3). {ECO:0000269|PubMed:12838557}.|D -> H (in EEC3). {ECO:0000269|PubMed:11462173}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|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)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCAGGAAGAGACAGGAAGGC	0.493										HNSCC(45;0.13)																											p.D351Y													.	.			0			c.G1051T	GRCh37	CM013072|CM063214	TP63	M								85	84	84					3																	189586427		2203	4300	6503	SO:0001583	missense	8626	exon8			GGAAGAGACAGGA	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1051G>T	3.37:g.189586427G>T	ENSP00000264731:p.Asp351Tyr		69	0	0		87	0.06	5	NM_001114979	1	0	0	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570089	0.86542	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39;-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.83	5.83	0.93111	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.91196	3.185	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.995;0.998;0.997;0.998;0.995;0.997;0.997;0.999;0.995	D	0.96779	0.9574	9	.	.	.	-14.6055	19.1141	0.93331	0.0:0.0:1.0:0.0	.	172;351;351;257;257;257;257;351;351;351	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	Y	351;351;351;351;351;266;257;257;257;257;172;257	ENSP00000264731:D351Y;ENSP00000407144:D351Y;ENSP00000317510:D351Y;ENSP00000376253:D351Y;ENSP00000394337:D351Y;ENSP00000371495:D266Y;ENSP00000346614:D257Y;ENSP00000392488:D257Y;ENSP00000376256:D257Y;ENSP00000376254:D257Y;ENSP00000387839:D172Y;ENSP00000389485:D257Y	.	D	+	1	0	TP63	191069121	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.700000	0.98707	2.749000	0.94314	0.655000	0.94253	GAC			0.493	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000343865.1		NM_003722		T	189586427	G	T	189586427	3	4	22	1	0	0	0	0	1	0	0	0	16416	942	33	3	1127	3	TP63	3	189586427	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	137142670	189586427	8436003	14	1398											
GRK4	2868	mdanderson.org	37	chr4	2990561	2990561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacattgaattcttggatGcagtggtgagcagtttatct	9	14	12	6	0	2	2	0	2	2	0	2	3	2	3	0	3	2	4	0	3	2	5			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr4:2990561G>T	ENST00000398052.4	+	3	599	c.256G>T	c.(256-258)Gca>Tca	p.A86S	GRK4_ENST00000345167.6_Missense_Mutation_p.A54S|GRK4_ENST00000504933.1_Missense_Mutation_p.A86S|GRK4_ENST00000398051.4_Missense_Mutation_p.A54S	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	86	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTCTTGGATGCAGTGGTGAG	0.438																																					p.A86S													.	.			0			c.G256T												131	129	130					4																	2990561		2203	4300	6503	SO:0001583	missense	2868	exon3			TTGGATGCAGTGG		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.256G>T	4.37:g.2990561G>T	ENSP00000381129:p.Ala86Ser		54	0	0		31	0.1	3	NM_001004057	0		0	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757554	0.15846	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.02944	4.1;4.1;4.1;4.1	5.56	4.72	0.59763	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.139622	0.47093	U	0.000258	T	0.04588	0.0125	L	0.60455	1.87	0.80722	D	1	P;B;P;P	0.41313	0.745;0.138;0.745;0.673	B;B;B;B	0.42522	0.27;0.073;0.27;0.39	T	0.48592	-0.9022	10	0.09590	T	0.72	-18.0643	12.1383	0.53984	0.0837:0.0:0.9163:0.0	.	54;54;86;86	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	S	54;86;54;86	ENSP00000381128:A54S;ENSP00000381129:A86S;ENSP00000264764:A54S;ENSP00000427445:A86S	ENSP00000264764:A54S	A	+	1	0	GRK4	2960359	1.000000	0.71417	0.995000	0.50966	0.487000	0.33371	4.169000	0.58223	1.335000	0.45486	0.573000	0.79308	GCA			0.438	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358176.2		NM_005307		T	2990561	G	T	2990561	3	4	22	1	0	0	0	0	1	0	0	0	6806	1319	46	2	266	2	GRK4	4	2990561	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		2990561	188163715	15	1399											
ZBTB49	166793	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	4304033	4304033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactacccccctcatttacTgcaggaatgttcagcagatg	12	10	7	12	0	2	1	2	0	0	1	2	2	2	2	3	1	5	3	3	1	4	4			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr4:4304033T>C	ENST00000337872.4	+	3	591	c.470T>C	c.(469-471)cTg>cCg	p.L157P	ZBTB49_ENST00000355834.3_Missense_Mutation_p.L157P|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	157					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						CCTCATTTACTGCAGGAATGT	0.478																																					p.L157P													.	.			0			c.T470C												126	122	123					4																	4304033		2203	4300	6503	SO:0001583	missense	166793	exon3			ATTTACTGCAGGA	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.470T>C	4.37:g.4304033T>C	ENSP00000338807:p.Leu157Pro		169	0	0		137	0.08	11	NM_145291	4	0	0	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	T	8.373	0.835749	0.16820	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	T;T	0.14766	2.48;2.85	5.17	2.74	0.32292	.	0.000000	0.43919	D	0.000510	T	0.12433	0.0302	L	0.46885	1.475	0.80722	D	1	B	0.20887	0.049	B	0.19666	0.026	T	0.06499	-1.0823	10	0.46703	T	0.11	.	9.2007	0.37256	0.0:0.1485:0.0:0.8515	.	157	Q6ZSB9	ZBT49_HUMAN	P	157	ENSP00000348091:L157P;ENSP00000338807:L157P	ENSP00000338807:L157P	L	+	2	0	ZBTB49	4354934	0.182000	0.23173	0.783000	0.31826	0.030000	0.12068	0.386000	0.20702	0.927000	0.37143	0.482000	0.46254	CTG			0.478	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206688.3		NM_145291		C	4304033	T	C	4304033	3	2	22	1	0	0	0	0	1	0	0	0	17573	1580	55	4	476	4	ZBTB49	4	4304033	Missense_Mutation	SNP	T	TCGA-2G-AAG7-01A-11D-A42Y-10	1313472	4304033	186850243	16	1400											
CC2D2A	57545	bcgsc.ca	37	chr4	15539540	15539540	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagggccaagaagaagaaaAggaaacaagcagcagaagaa	23	0	13	5	0	0	6	0	0	0	6	0	7	0	7	1	2	3	2	1	2	9	0			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr4:15539540A>G	ENST00000503292.1	+	17	1963	c.1783A>G	c.(1783-1785)Agg>Ggg	p.R595G	CC2D2A_ENST00000389652.5_Missense_Mutation_p.R546G|CC2D2A_ENST00000424120.1_Missense_Mutation_p.R595G|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R595G	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	595	Poly-Lys.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GAAGAAGAAAAGGAAACAAGC	0.493																																					p.R595G													.	CC2D2A	158		0			c.A1783G												60	65	63					4																	15539540		1967	4170	6137	SO:0001583	missense	57545	exon17			AAGAAAAGGAAAC	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1783A>G	4.37:g.15539540A>G	ENSP00000421809:p.Arg595Gly		87	0	0		59	0.07	4	NM_001080522	7	0	0	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491186	0.44249	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.39	5.39	0.77823	.	0.175469	0.49305	D	0.000153	T	0.12817	0.0311	N	0.08118	0	0.80722	D	1	B;B	0.26902	0.163;0.163	B;B	0.26969	0.075;0.047	T	0.13019	-1.0525	10	0.35671	T	0.21	.	15.4144	0.74952	1.0:0.0:0.0:0.0	.	595;546	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	G	595;595;546;546;595;546	ENSP00000403465:R595G;ENSP00000398391:R595G;ENSP00000421809:R595G;ENSP00000374303:R546G	ENSP00000374303:R546G	R	+	1	2	CC2D2A	15148638	1.000000	0.71417	0.979000	0.43373	0.710000	0.40934	3.417000	0.52714	2.044000	0.60594	0.383000	0.25322	AGG			0.493	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359906.2		NM_001080522		G	15539540	A	G	15539540	3	3	22	1	0	0	0	0	1	0	0	0	2730	63	3	4	2044	4	CC2D2A	4	15539540	Missense_Mutation	SNP	A	TCGA-2G-AAG7-01A-11D-A42Y-10	11235507	15539540	175614736	17	1401											
FAT4	79633	ucsc.edu	37	chr4	126329610	126329610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgataggttctttggtaGcagccattttagccacggat	8	16	10	7	1	1	1	0	1	1	0	1	2	1	2	2	3	3	3	2	3	3	8			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr4:126329610G>T	ENST00000394329.3	+	4	5594	c.5581G>T	c.(5581-5583)Gca>Tca	p.A1861S	FAT4_ENST00000335110.5_Missense_Mutation_p.A159S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1861	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTTTGGTAGCAGCCATTTT	0.313																																					p.A1861S													.	FAT4	1752		0			c.G5581T												88	91	90					4																	126329610		2203	4300	6503	SO:0001583	missense	79633	exon4			TTGGTAGCAGCCA	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5581G>T	4.37:g.126329610G>T	ENSP00000377862:p.Ala1861Ser		51	0	0		38	0.11	4	NM_024582	1	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977644	0.74360	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.03	5.03	0.67393	Cadherin (3);Cadherin-like (1);	0.000000	0.34088	U	0.004277	T	0.05593	0.0147	L	0.31804	0.96	0.49582	D	0.999804	D;D	0.67145	0.995;0.996	D;D	0.76575	0.97;0.988	T	0.63554	-0.6611	10	0.22109	T	0.4	.	18.3766	0.90437	0.0:0.0:1.0:0.0	.	159;1861	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	S	1861;159	ENSP00000377862:A1861S;ENSP00000335169:A159S	ENSP00000335169:A159S	A	+	1	0	FAT4	126549060	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.027000	0.93706	2.337000	0.79520	0.591000	0.81541	GCA			0.313	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256765.2		NM_024582		T	126329610	G	T	126329610	3	4	22	1	0	0	0	0	1	0	0	0	5705	971	34	2	5595	2	FAT4	4	126329610	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	110790070	126329610	64824666	18	1402											
GALNTL6	442117	mdanderson.org	37	chr4	172735869	172735869	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggagcccggggagcagcaGgtaagtgccacccagagaaa	12	2	16	11	2	0	1	0	0	0	1	0	4	0	3	3	4	4	3	3	4	2	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr4:172735869G>T	ENST00000506823.1	+	2	795	c.138G>T	c.(136-138)caG>caT	p.Q46H	GALNTL6_ENST00000511251.1_Missense_Mutation_p.Q46H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	46					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)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GGGAGCAGCAGGTAAGTGCCA	0.552																																					p.Q46H													.	.			0			c.G138T												66	65	66					4																	172735869		2203	4300	6503	SO:0001630	splice_region_variant	442117	exon2			GCAGCAGGTAAGT		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.138+1G>T	4.37:g.172735869G>T			56	0	0		41	0.07	3	NM_001034845	1	0	0	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124197	0.56613	.	.	ENSG00000174473	ENST00000511251;ENST00000506823;ENST00000404275	T	0.56444	0.46	5.8	5.8	0.92144	.	.	.	.	.	T	0.46308	0.1386	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24905	-1.0147	9	0.42905	T	0.14	.	19.0445	0.93013	0.0:0.0:1.0:0.0	.	46	Q49A17	GLTL6_HUMAN	H	46	ENSP00000423313:Q46H	ENSP00000385382:Q46H	Q	+	3	2	GALNTL6	172972444	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.315000	0.65810	2.746000	0.94184	0.563000	0.77884	CAG			0.552	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362395.1		NM_001034845	Missense_Mutation	T	172735869	G	T	172735869	5	4	22	1	0	0	0	0	0	0	1	0	6239	1014	35	3	140	3	GALNTL6	4	172735869	Splice_Site	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	46406259	172735869	18418407	19	1403											
NSUN2	54888	mdanderson.org	37	chr5	6623369	6623369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagtggtgggatcatGctaacagcttcttgacgact	10	10	13	8	1	2	1	1	1	1	0	2	4	2	3	0	3	4	3	0	3	1	3			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr5:6623369G>T	ENST00000264670.6	-	5	806	c.495C>A	c.(493-495)agC>agA	p.S165R	NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.S130R	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	165					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GTGGGATCATGCTAACAGCTT	0.433																																					p.S165R													.	.			0			c.C495A												133	126	128					5																	6623369		2203	4300	6503	SO:0001583	missense	54888	exon5			GATCATGCTAACA	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.495C>A	5.37:g.6623369G>T	ENSP00000264670:p.Ser165Arg		75	0	0		53	0.08	4	NM_017755	83	0	0	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540103	0.65085	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.72282	-0.64;-0.4	5.38	3.09	0.35607	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87744	0.2587	10	0.87932	D	0	-34.9309	6.2518	0.20850	0.4345:0.0:0.5655:0.0	.	130;165	B4DQW2;Q08J23	.;NSUN2_HUMAN	R	165;130	ENSP00000264670:S165R;ENSP00000420957:S130R	ENSP00000264670:S165R	S	-	3	2	NSUN2	6676369	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	2.222000	0.42926	1.139000	0.42245	0.585000	0.79938	AGC			0.433	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000206902.1		NM_017755		T	6623369	G	T	6623369	3	4	22	1	0	0	0	0	1	0	0	0	10695	1310	46	2	1868	2	NSUN2	5	6623369	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		6623369	174291891	20	1404											
C7	730	mdanderson.org	37	chr5	40955571	40955571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggccttagttacctagaGctggacaatcctgctggaaa	10	11	10	10	0	1	1	0	0	1	1	2	3	2	3	3	3	3	3	3	3	5	3			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr5:40955571G>T	ENST00000313164.9	+	10	1535	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	392	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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)				GTTACCTAGAGCTGGACAATC	0.453																																					p.E392D													.	.			0			c.G1176T												122	121	121					5																	40955571		1896	4127	6023	SO:0001583	missense	730	exon10			CCTAGAGCTGGAC	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.1176G>T	5.37:g.40955571G>T	ENSP00000322061:p.Glu392Asp		72	0	0		48	0.06	3	NM_000587	6	0	0	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	4.272	0.049604	0.08243	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.64085	-0.08	5.26	-3.58	0.04597	Membrane attack complex component/perforin (MACPF) domain (3);	0.548907	0.19471	N	0.113455	T	0.28699	0.0711	N	0.12471	0.22	0.19775	N	0.99996	B	0.06786	0.001	B	0.08055	0.003	T	0.34079	-0.9843	10	0.02654	T	1	-5.194	5.0858	0.14680	0.0724:0.2491:0.1433:0.5353	.	392	P10643	CO7_HUMAN	D	392;232	ENSP00000322061:E392D	ENSP00000322061:E392D	E	+	3	2	C7	40991328	0.000000	0.05858	0.918000	0.36340	0.983000	0.72400	-1.521000	0.02239	-0.300000	0.08895	0.655000	0.94253	GAG			0.453	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317680.1				T	40955571	G	T	40955571	3	4	22	1	0	0	0	0	1	0	0	0	2377	962	34	2	1214	2	C7	5	40955571	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	34332202	40955571	139959689	21	1405											
PCDHGA9	56107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140784930	140784930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtttcctatagaagacaCccctttggttccggtgagtt	9	13	9	10	1	0	3	0	1	0	2	2	3	2	3	4	2	0	3	4	2	4	6			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr5:140784930C>A	ENST00000573521.1	+	1	2411	c.2411C>A	c.(2410-2412)aCc>aAc	p.T804N	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	804					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGAAGACACCCCTTTGGTT	0.403																																					p.T804N													.	.			0			c.C2411A												48	52	51					5																	140784930		2129	4271	6400	SO:0001583	missense	56107	exon1			AAGACACCCCTTT	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2411C>A	5.37:g.140784930C>A	ENSP00000460274:p.Thr804Asn		111	0	0		83	0.33	27	NM_032089	1	1	1	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																					0.403	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437105.1		NM_018921		A	140784930	C	A	140784930	3	1	22	1	0	0	0	0	1	0	0	0	11578	507	18	3	2413	3	PCDHGA9	5	140784930	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	99829359	140784930	40130330	22	1406											
NSD1	64324	mdanderson.org	37	chr5	176665473	176665473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagtctctccacggcctgCccttgagtctgaggaattgc	7	10	12	12	1	2	2	0	2	2	0	4	4	3	4	3	3	2	0	3	3	2	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr5:176665473C>T	ENST00000439151.2	+	7	4202	c.4157C>T	c.(4156-4158)gCc>gTc	p.A1386V	NSD1_ENST00000354179.4_Missense_Mutation_p.A1117V|NSD1_ENST00000361032.4_Missense_Mutation_p.A1283V|NSD1_ENST00000347982.4_Missense_Mutation_p.A1117V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1386					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)		CCACGGCCTGCCCTTGAGTCT	0.532			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.A1386V				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.			0			c.C4157T												94	94	94					5																	176665473		2203	4300	6503	SO:0001583	missense	64324	exon7	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	GGCCTGCCCTTGA	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.4157C>T	5.37:g.176665473C>T	ENSP00000395929:p.Ala1386Val		43	0	0		45	0.07	3	NM_022455	42	0	0	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117930	0.56505	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93076	-3.05;-3.05;-3.05;-3.16	5.44	2.7	0.31948	.	0.911551	0.09413	N	0.805484	D	0.85089	0.5617	N	0.14661	0.345	0.30505	N	0.769987	B;B;B	0.15141	0.012;0.012;0.007	B;B;B	0.15052	0.012;0.012;0.003	T	0.76534	-0.2924	10	0.37606	T	0.19	.	5.0608	0.14557	0.165:0.6644:0.0:0.1706	.	1117;1283;1386	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	V	1117;1386;1117;1283	ENSP00000346111:A1117V;ENSP00000395929:A1386V;ENSP00000343209:A1117V;ENSP00000354310:A1283V	ENSP00000343209:A1117V	A	+	2	0	NSD1	176598079	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.735000	0.38176	0.416000	0.25844	0.655000	0.94253	GCC			0.532	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253412.2		NM_172349		T	176665473	C	T	176665473	3	4	22	1	0	0	0	0	1	0	0	0	10686	739	26	2	4179	2	NSD1	5	176665473	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	35880543	176665473	4249787	23	1407											
HIST1H4B	8366	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26027303	26027303	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttctccagaaacacctTgagaacgccacgagtctcct	11	8	7	15	3	2	2	0	1	2	2	4	4	2	2	4	0	2	1	4	0	2	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr6:26027303T>C	ENST00000377364.3	-	1	177	c.178A>G	c.(178-180)Aag>Gag	p.K60E		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	60					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						AGAAACACCTTGAGAACGCCA	0.567											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K60E													.	.			0			c.A178G												97	83	88					6																	26027303		2203	4300	6503	SO:0001583	missense	8366	exon1			ACACCTTGAGAAC	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.178A>G	6.37:g.26027303T>C	ENSP00000366581:p.Lys60Glu		128	0	0	783	112	0.35	39	NM_003544	0		0	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	t	17.60	3.430036	0.62844	.	.	ENSG00000124529	ENST00000377364	T	0.54479	0.57	4.65	4.65	0.58169	.	0.000000	0.56097	U	0.000032	T	0.57607	0.2065	.	.	.	0.42561	D	0.993141	.	.	.	.	.	.	T	0.63238	-0.6682	7	0.59425	D	0.04	.	13.9697	0.64233	0.0:0.0:0.0:1.0	.	.	.	.	E	60	ENSP00000366581:K60E	ENSP00000366581:K60E	K	-	1	0	HIST1H4B	26135282	1.000000	0.71417	0.900000	0.35374	0.003000	0.03518	7.516000	0.81772	2.028000	0.59812	0.460000	0.39030	AAG			0.567	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040079.2		NM_003544		C	26027303	T	C	26027303	3	2	22	1	0	0	0	0	1	0	0	0	7181	1821	63	4	137	4	HIST1H4B	6	26027303	Missense_Mutation	SNP	T	TCGA-2G-AAG7-01A-11D-A42Y-10		26027303	145087764	24	1408											
TEAD3	7005	mdanderson.org	37	chr6	35445113	35445113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtcggcggcaggggcggCtggatggggtaggctggctg	4	6	23	8	4	0	0	0	0	0	0	1	1	0	1	0	10	1	5	0	10	1	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr6:35445113C>T	ENST00000402886.3	-	6	540	c.387G>A	c.(385-387)caG>caA	p.Q129Q	TEAD3_ENST00000338863.7_Silent_p.Q189Q			Q99594	TEAD3_HUMAN	TEA domain family member 3	189					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCAGGGGCGGCTGGATGGGGT	0.637																																					p.Q189Q													.	.			0			c.G567A												33	43	40					6																	35445113		2026	4180	6206	SO:0001819	synonymous_variant	7005	exon8			GGGCGGCTGGATG	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.387G>A	6.37:g.35445113C>T			32	0	0		24	0.08	2	NM_003214	14	0	0	O95910|Q5BJG7|Q8N6Y4	Silent	SNP	ENST00000402886.3	37																																																																																						0.637	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000316961.2				T	35445113	C	T	35445113	2	4	22	1	0	0	0	0	0	0	0	1	15763	796	28	2		2	TEAD3	6	35445113	Silent	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	9417810	35445113	135669954	25	1409											
TTBK1	84630	mdanderson.org	37	chr6	43221327	43221327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggaacctggccgacctgCgccgtagccagccgcgaggc	6	3	15	17	6	0	0	0	0	0	0	0	3	0	1	7	3	4	1	7	3	2	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr6:43221327C>T	ENST00000259750.4	+	5	435	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	TTBK1_ENST00000304139.5_Missense_Mutation_p.R67C	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCGACCTGCGCCGTAGCCA	0.627																																					p.R118C													.	.			0			c.C352T												38	33	35					6																	43221327		2203	4300	6503	SO:0001583	missense	84630	exon5			GACCTGCGCCGTA	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.352C>T	6.37:g.43221327C>T	ENSP00000259750:p.Arg118Cys		25	0	0		31	0.1	3	NM_032538	0		0	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905097	0.72868	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.64991	-0.13	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.259849	0.35555	N	0.003124	T	0.80783	0.4689	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85458	0.1165	10	0.66056	D	0.02	.	12.4026	0.55422	0.1691:0.8309:0.0:0.0	.	118	Q5TCY1	TTBK1_HUMAN	C	67;118;67	ENSP00000259750:R118C	ENSP00000259750:R118C	R	+	1	0	TTBK1	43329305	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.327000	0.43858	2.205000	0.71048	0.462000	0.41574	CGC			0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040584.3				T	43221327	C	T	43221327	3	4	22	1	0	0	0	0	1	0	0	0	16700	768	27	1	366	1	TTBK1	6	43221327	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	7776214	43221327	127893740	26	1410											
C6orf138	442213	mdanderson.org	37	chr6	47847374	47847374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttacagcaaaagatgctGtggtagcggttttgctctag	10	13	11	7	1	2	1	0	0	2	1	2	1	2	1	0	2	5	5	0	2	5	5			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr6:47847374G>T	ENST00000339488.4	-	3	1239	c.1206C>A	c.(1204-1206)caC>caA	p.H402Q		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	402						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AAAAGATGCTGTGGTAGCGGT	0.463																																					p.H402Q													C6orf138,NS,haematopoietic_neoplasm,-1,1	C6orf138	-1	1	0			c.C1206A												90	82	85					6																	47847374		2203	4300	6503	SO:0001583	missense	442213	exon3			GATGCTGTGGTAG		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.1206C>A	6.37:g.47847374G>T	ENSP00000341914:p.His402Gln		80	0	0		72	0.06	4	NM_001013732	0		0	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747830	0.49257	.	.	ENSG00000244694	ENST00000339488	D	0.85861	-2.04	5.01	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	M	0.61703	1.905	0.80722	D	1	D	0.56035	0.974	P	0.59012	0.85	D	0.83462	0.0054	10	0.30078	T	0.28	.	13.5087	0.61499	0.0759:0.0:0.9241:0.0	.	402	Q6ZW05	CF138_HUMAN	Q	402	ENSP00000341914:H402Q	ENSP00000341914:H402Q	H	-	3	2	C6orf138	47955333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.994000	0.56994	1.116000	0.41820	0.650000	0.86243	CAC			0.463	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317987.2		NM_001013732		T	47847374	G	T	47847374	3	4	22	1	0	0	0	0	1	0	0	0	2334	1368	48	3	1338	3	C6orf138	6	47847374	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	4626047	47847374	123267693	27	1411											
HDAC9	9734	mdanderson.org	37	chr7	18767261	18767261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccaagctccgctggctgCggttggcatggatggattag	6	9	16	10	3	0	0	0	0	0	0	1	2	1	2	2	5	2	5	2	5	2	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr7:18767261C>T	ENST00000432645.2	+	12	1781	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	HDAC9_ENST00000441542.2_Missense_Mutation_p.A597V|HDAC9_ENST00000401921.1_Missense_Mutation_p.A553V|HDAC9_ENST00000406451.4_Missense_Mutation_p.A594V	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	594					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)	CCGCTGGCTGCGGTTGGCATG	0.562																																					p.A597V													HDAC9_ENST00000262069,caecum,carcinoma,-1,4	HDAC9_ENST00000262069	-1	4	0			c.C1790T												42	47	45					7																	18767261		2032	4191	6223	SO:0001583	missense	9734	exon12			TGGCTGCGGTTGG	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.1781C>T	7.37:g.18767261C>T	ENSP00000410337:p.Ala594Val		62	0	0		79	0.05	4	NM_178425	0		0	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428500	0.25726	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.27	-1.87	0.07737	.	2.023590	0.02511	N	0.091503	T	0.54532	0.1864	L	0.58810	1.83	0.09310	N	0.999999	B;B;B;B;B;B;B	0.22146	0.0;0.0;0.0;0.0;0.0;0.0;0.065	B;B;B;B;B;B;B	0.09377	0.0;0.0;0.001;0.0;0.0;0.0;0.004	T	0.44221	-0.9342	10	0.29301	T	0.29	-2.7209	12.8687	0.57953	0.0:0.7015:0.0:0.2985	.	594;506;553;597;594;594;572	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	V	594;553;594;597;506	ENSP00000384657:A594V;ENSP00000383912:A553V;ENSP00000410337:A594V;ENSP00000408617:A597V	ENSP00000339165:A506V	A	+	2	0	HDAC9	18733786	0.594000	0.26849	0.571000	0.28486	0.820000	0.46376	-0.188000	0.09642	-0.205000	0.10219	0.557000	0.71058	GCG			0.562	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000376176.1				T	18767261	C	T	18767261	3	4	22	1	0	0	0	0	1	0	0	0	7029	768	27	1	1887	1	HDAC9	7	18767261	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10		18767261	140371402	28	1412											
ITGB8	3696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	20449503	20449503	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctctattaaggataaGttgattctgcaaagtgtttg	10	18	8	5	0	3	1	0	1	3	0	4	2	3	2	0	1	1	3	0	1	4	8			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr7:20449503G>C	ENST00000222573.4	+	14	2877	c.2193G>C	c.(2191-2193)aaG>aaC	p.K731N	ITGB8_ENST00000537992.1_Missense_Mutation_p.K596N	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	731					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						TTAAGGATAAGTTGATTCTGC	0.328																																					p.K731N													.	.			0			c.G2193C												55	61	59					7																	20449503		2203	4300	6503	SO:0001583	missense	3696	exon14			GGATAAGTTGATT		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.2193G>C	7.37:g.20449503G>C	ENSP00000222573:p.Lys731Asn		182	0	0		216	0.2	43	NM_002214	3	0.33	1	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848192	0.51164	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	T;T	0.48836	0.8;0.8	5.97	2.71	0.32032	.	0.165992	0.42821	D	0.000656	T	0.50990	0.1648	L	0.44542	1.39	0.52099	D	0.999943	D	0.64830	0.994	P	0.57911	0.829	T	0.50338	-0.8840	10	0.87932	D	0	.	8.2035	0.31438	0.4264:0.0:0.5736:0.0	.	731	P26012	ITB8_HUMAN	N	596;731	ENSP00000441561:K596N;ENSP00000222573:K731N	ENSP00000222573:K731N	K	+	3	2	ITGB8	20416028	1.000000	0.71417	0.994000	0.49952	0.805000	0.45488	1.347000	0.33975	0.611000	0.30052	0.591000	0.81541	AAG			0.328	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059915.3		NM_002214		C	20449503	G	C	20449503	3	2	22	1	0	0	0	0	1	0	0	0	7916	1020	36	5	2247	5	ITGB8	7	20449503	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	1682242	20449503	138689160	29	1413											
CCT6A	908	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	56119654	56119654	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgctaaggaccaaccTggggcccaagggcaccatga	11	4	14	12	1	0	1	0	1	0	0	0	3	0	3	4	5	2	2	4	5	3	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr7:56119654T>A	ENST00000275603.4	+	1	332	c.113T>A	c.(112-114)cTg>cAg	p.L38Q	CCT6A_ENST00000540286.1_Intron|PSPH_ENST00000275605.3_5'Flank|PSPH_ENST00000395471.3_5'Flank|CCT6A_ENST00000335503.3_Missense_Mutation_p.L38Q	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	38					'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)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGACCAACCTGGGGCCCAAG	0.736																																					p.L38Q													.	.			0			c.T113A												8	8	8					7																	56119654		2060	4021	6081	SO:0001583	missense	908	exon1			CCAACCTGGGGCC	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.113T>A	7.37:g.56119654T>A	ENSP00000275603:p.Leu38Gln		62	0	0		127	0.25	32	NM_001762	806	0.22	180	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968093	0.92855	.	.	ENSG00000146731	ENST00000275603;ENST00000335503	D;D	0.87103	-2.21;-2.21	4.41	4.41	0.53225	Chaperonin TCP-1, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.96062	0.8717	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97229	0.9883	10	0.87932	D	0	-8.3829	12.9709	0.58511	0.0:0.0:0.0:1.0	.	38;38	A6NCD2;P40227	.;TCPZ_HUMAN	Q	38	ENSP00000275603:L38Q;ENSP00000352019:L38Q	ENSP00000275603:L38Q	L	+	2	0	CCT6A	56087148	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	6.944000	0.75940	1.856000	0.53863	0.260000	0.18958	CTG			0.736	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251526.2		NM_001762		A	56119654	T	A	56119654	3	1	22	1	0	0	0	0	1	0	0	0	2959	1580	55	5	115	5	CCT6A	7	56119654	Missense_Mutation	SNP	T	TCGA-2G-AAG7-01A-11D-A42Y-10	35670151	56119654	103019009	30	1414											
PEX1	5189	mdanderson.org	37	chr7	92143220	92143220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggggtaacttccactGgagttatcctgactacggca	9	13	10	9	1	0	1	0	1	0	0	2	2	2	2	2	4	2	3	2	4	4	6			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr7:92143220G>T	ENST00000248633.4	-	6	1396	c.1301C>A	c.(1300-1302)cCa>cAa	p.P434Q	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.P434Q|PEX1_ENST00000438045.1_Missense_Mutation_p.P112Q	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	434					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)			AACTTCCACTGGAGTTATCCT	0.303																																					p.P434Q													.	.			0			c.C1301A												107	112	110					7																	92143220		2203	4298	6501	SO:0001583	missense	5189	exon6			TCCACTGGAGTTA	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.1301C>A	7.37:g.92143220G>T	ENSP00000248633:p.Pro434Gln		26	0	0		42	0.07	3	NM_000466	24	0	0	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060436	0.76074	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.94897	-3.53;-3.45;-3.55	5.84	4.94	0.65067	.	0.623994	0.17390	N	0.175968	D	0.93374	0.7887	L	0.47716	1.5	0.80722	D	1	P;P;B	0.46706	0.883;0.624;0.437	P;B;B	0.45037	0.467;0.347;0.203	D	0.93192	0.6584	10	0.72032	D	0.01	-2.2254	16.0817	0.81010	0.0:0.0:0.865:0.135	.	112;226;434	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	Q	112;434;434;434	ENSP00000410438:P112Q;ENSP00000248633:P434Q;ENSP00000394413:P434Q	ENSP00000248633:P434Q	P	-	2	0	PEX1	91981156	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.371000	0.66150	1.414000	0.47017	0.561000	0.74099	CCA			0.303	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254066.3		NM_000466		T	92143220	G	T	92143220	3	4	22	1	0	0	0	0	1	0	0	0	11752	1348	47	3	2626	3	PEX1	7	92143220	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	36023566	92143220	66995443	31	1415											
ZNF777	27153	mdanderson.org	37	chr7	149129364	149129364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagctcttcttgcactcggGgcacgtgtagggccgctcac	6	9	13	13	3	3	0	1	0	2	0	4	1	3	0	1	3	2	5	1	3	2	3			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr7:149129364G>T	ENST00000247930.4	-	6	2322	c.1999C>A	c.(1999-2001)Ccc>Acc	p.P667T		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	667					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)			TTGCACTCGGGGCACGTGTAG	0.612																																					p.P667T													.	.			0			c.C1999A												83	96	91					7																	149129364		2187	4290	6477	SO:0001583	missense	27153	exon6			ACTCGGGGCACGT	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.1999C>A	7.37:g.149129364G>T	ENSP00000247930:p.Pro667Thr		39	0	0		40	0.08	3	NM_015694	29	0	0	Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257087	0.39896	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.07114	3.22	4.65	4.65	0.58169	.	0.143688	0.32147	N	0.006512	T	0.13030	0.0316	N	0.25286	0.73	0.34796	D	0.736214	D	0.63880	0.993	P	0.59761	0.863	T	0.31916	-0.9926	10	0.20519	T	0.43	-23.2965	15.0378	0.71764	0.0:0.0:1.0:0.0	.	667	Q9ULD5-2	.	T	667;410	ENSP00000247930:P667T	ENSP00000247930:P667T	P	-	1	0	ZNF777	148760297	0.972000	0.33761	1.000000	0.80357	0.994000	0.84299	0.786000	0.26844	2.137000	0.66172	0.460000	0.39030	CCC			0.612	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352708.1		NM_015694		T	149129364	G	T	149129364	3	4	22	1	0	0	0	0	1	0	0	0	18173	1232	43	3	500	3	ZNF777	7	149129364	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	56986144	149129364	10009299	32	1416											
MLL3	58508	mdanderson.org	37	chr7	151843697	151843697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcactgattccgctatgCgtgccactgcagagacggtc	8	9	10	14	3	1	2	1	1	0	1	3	3	2	2	2	1	3	2	2	1	1	2	rs151112171		TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr7:151843697C>T	ENST00000262189.6	-	53	14236	c.14018G>A	c.(14017-14019)cGc>cAc	p.R4673H	KMT2C_ENST00000355193.2_Missense_Mutation_p.R4730H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4673	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				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)										TTCCGCTATGCGTGCCACTGC	0.473											OREG0018460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R4673H													.	.			0			c.G14018A							C	HIS/ARG	0,4406		0,0,2203	77	70	72		14018	5.4	1	7	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLL3	NM_170606.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	4673/4912	151843697	1,13005	2203	4300	6503	SO:0001583	missense	58508	exon53			GCTATGCGTGCCA	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.14018G>A	7.37:g.151843697C>T	ENSP00000262189:p.Arg4673His		35	0	0	1743	51	0.06	3	NM_170606	34	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171191	0.57584	0.0	1.16E-4	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	T;T;T	0.49139	0.79;0.79;0.79	5.43	5.43	0.79202	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.41001	U	0.000962	T	0.73853	0.3640	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.982;0.982	T	0.78301	-0.2257	10	0.87932	D	0	.	19.2232	0.93806	0.0:1.0:0.0:0.0	.	4673;3791;4730	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	H	4673;4730;1290	ENSP00000262189:R4673H;ENSP00000347325:R4730H;ENSP00000410411:R1290H	ENSP00000262189:R4673H	R	-	2	0	MLL3	151474630	1.000000	0.71417	0.995000	0.50966	0.601000	0.36947	4.871000	0.63042	2.530000	0.85305	0.557000	0.71058	CGC	0		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3				T	151843697	C	T	151843697	3	4	22	1	0	0	0	0	1	0	0	0	9638	768	27	1	745	1	MLL3	7	151843697	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	2714333	151843697	7294966	33	1417											
GSR	2936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	30560672	30560672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgatcaggatgtgtgggGcggtgtactttttcccactg	5	13	15	8	2	1	0	1	0	0	0	2	2	2	1	1	5	1	1	1	5	1	3			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr8:30560672G>A	ENST00000221130.5	-	5	668	c.578C>T	c.(577-579)gCc>gTc	p.A193V	GSR_ENST00000537535.1_Missense_Mutation_p.A193V|GSR_ENST00000546342.1_Missense_Mutation_p.A193V|GSR_ENST00000414019.1_Missense_Mutation_p.A150V|GSR_ENST00000541648.1_Missense_Mutation_p.A193V	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	193					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	GATGTGTGGGGCGGTGTACTT	0.527																																					p.A193V													.	.			0			c.C578T												273	227	243					8																	30560672		2203	4300	6503	SO:0001583	missense	2936	exon5			TGTGGGGCGGTGT		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.578C>T	8.37:g.30560672G>A	ENSP00000221130:p.Ala193Val		134	0	0		128	0.29	37	NM_001195103	70	0.33	23	C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485291	0.63962	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535;ENST00000521479	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	6.14	5.28	0.74379	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75693	0.3884	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82364	-0.0494	10	0.87932	D	0	-11.2681	13.1736	0.59613	0.0762:0.0:0.9238:0.0	.	193	P00390	GSHR_HUMAN	V	193;150;193;193;193;81	ENSP00000221130:A193V;ENSP00000390065:A150V;ENSP00000445516:A193V;ENSP00000444559:A193V;ENSP00000438845:A193V;ENSP00000430825:A81V	ENSP00000221130:A193V	A	-	2	0	GSR	30680214	1.000000	0.71417	0.166000	0.22797	0.002000	0.02628	8.656000	0.91102	1.621000	0.50320	0.637000	0.83480	GCC			0.527	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376519.1				A	30560672	G	A	30560672	3	1	22	1	0	0	0	0	1	0	0	0	6843	1203	42	2	1026	2	GSR	8	30560672	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		30560672	115803350	34	1418											
FBXO18	84893	mdanderson.org	37	chr10	5951128	5951128	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtcttacagatacacAgccaccactaagtgctctcc	12	10	6	13	0	2	2	0	1	2	1	3	2	2	2	3	0	4	1	3	0	4	3			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr10:5951128A>G	ENST00000362091.4	+	5	1006	c.891A>G	c.(889-891)acA>acG	p.T297T	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Silent_p.T348T|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	297					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						ACAGATACACAGCCACCACTA	0.562																																					p.T348T													.	.			0			c.A1044G												100	92	94					10																	5951128		2203	4300	6503	SO:0001819	synonymous_variant	84893	exon6			ATACACAGCCACC	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.891A>G	10.37:g.5951128A>G			36	0	0		21	0.14	3	NM_032807	21	0	0	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	CCDS7072.1																																																																																					0.562	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046596.1		NM_032807		G	5951128	A	G	5951128	2	3	22	1	0	0	0	0	0	0	0	1	5744	175	7	4		4	FBXO18	10	5951128	Silent	SNP	A	TCGA-2G-AAG7-01A-11D-A42Y-10		5951128	129583619	35	1419											
TYSND1	219743	bcgsc.ca;mdanderson.org	37	chr10	71905784	71905784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctagccgcacgcccagcaGcgcaaaccagcccagcgctc	9	2	10	20	4	0	0	0	0	0	0	1	0	0	0	5	0	6	4	5	0	2	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr10:71905784G>T	ENST00000287078.6	-	1	558	c.559C>A	c.(559-561)Ctg>Atg	p.L187M	TYSND1_ENST00000494143.1_5'Flank|TYSND1_ENST00000335494.5_Missense_Mutation_p.L187M	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	187					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						ACGCCCAGCAGCGCAAACCAG	0.701																																					p.L187M													.	TYSND1	20		0			c.C559A												24	25	25					10																	71905784		2198	4292	6490	SO:0001583	missense	219743	exon1			CCAGCAGCGCAAA	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.559C>A	10.37:g.71905784G>T	ENSP00000287078:p.Leu187Met		75	0	0		58	0.09	5	NM_001040273	18	0	0	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077398	0.36662	.	.	ENSG00000156521	ENST00000287078;ENST00000335494	T;T	0.70399	-0.48;-0.48	3.93	2.01	0.26516	.	0.300837	0.26832	N	0.022272	T	0.78220	0.4249	M	0.64997	1.995	0.31900	N	0.616036	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.946	T	0.78443	-0.2202	10	0.72032	D	0.01	-19.8477	8.308	0.32053	0.2057:0.0:0.7943:0.0	.	187;187	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	M	187	ENSP00000287078:L187M;ENSP00000335673:L187M	ENSP00000287078:L187M	L	-	1	2	TYSND1	71575790	0.406000	0.25344	0.855000	0.33649	0.282000	0.26991	0.557000	0.23454	0.404000	0.25506	0.313000	0.20887	CTG			0.701	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048483.1		NM_173555		T	71905784	G	T	71905784	3	4	22	1	0	0	0	0	1	0	0	0	16841	962	34	2	1157	2	TYSND1	10	71905784	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	65954656	71905784	63628963	36	1420											
GPR120	338557	mdanderson.org	37	chr10	95326496	95326496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtcccctgaatgcgcgCgggcagcgggcgacgcgccc	6	4	16	15	7	0	1	0	1	0	0	1	3	1	1	3	2	2	1	3	2	2	0			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr10:95326496C>T	ENST00000371483.4	+	1	75	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	FFAR4_ENST00000604414.1_Missense_Mutation_p.R7W|FFAR4_ENST00000371481.4_Missense_Mutation_p.R7W	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	7					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)										TGAATGCGCGCGGGCAGCGGG	0.697																																					p.R7W													.	.			0			c.C19T												10	10	10					10																	95326496		2182	4267	6449	SO:0001583	missense	338557	exon1			TGCGCGCGGGCAG		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.19C>T	10.37:g.95326496C>T	ENSP00000360538:p.Arg7Trp		39	0	0		33	0.09	3	NM_001195755	0		0	Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321462	0.23994	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.67171	-0.25;-0.11	5.22	3.32	0.38043	.	0.970419	0.08494	N	0.937479	T	0.48484	0.1502	N	0.12182	0.205	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.0	T	0.40403	-0.9565	10	0.66056	D	0.02	-3.4582	7.7367	0.28819	0.0:0.7235:0.1359:0.1406	.	7;7	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	W	7	ENSP00000360536:R7W;ENSP00000360538:R7W	ENSP00000360536:R7W	R	+	1	2	O3FAR1	95316486	0.001000	0.12720	0.163000	0.22734	0.073000	0.16967	0.603000	0.24149	1.421000	0.47157	0.561000	0.74099	CGG			0.697	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000083179.1		NM_181745		T	95326496	C	T	95326496	3	4	22	1	0	0	0	0	1	0	0	0	6650	759	27	1	21	1	GPR120	10	95326496	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	23420712	95326496	40208251	37	1421											
BLNK	29760	ucsc.edu	37	chr10	97987208	97987208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcagggctgggtgaaccgGcctggtttcctgctctactg	4	10	16	11	1	1	1	0	1	1	0	2	1	2	1	3	5	3	4	3	5	2	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr10:97987208G>T	ENST00000224337.5	-	5	460	c.319C>A	c.(319-321)Ccg>Acg	p.P107T	BLNK_ENST00000427367.2_Missense_Mutation_p.P107T|BLNK_ENST00000371176.2_Missense_Mutation_p.P107T|BLNK_ENST00000413476.2_Missense_Mutation_p.P107T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	107	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGGTGAACCGGCCTGGTTTCC	0.627																																					p.P107T													.	BLNK	46		0			c.C319A												105	92	96					10																	97987208		2203	4300	6503	SO:0001583	missense	29760	exon5			GAACCGGCCTGGT	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.319C>A	10.37:g.97987208G>T	ENSP00000224337:p.Pro107Thr		68	0	0		42	0.1	4	NM_001114094	0		0	O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	37	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	G	0.203	-1.043071	0.01997	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049;ENST00000393894;ENST00000393889;ENST00000428924	.	.	.	5.83	2.21	0.28008	.	0.716979	0.14861	N	0.294115	T	0.22551	0.0544	N	0.01874	-0.695	0.09310	N	1	B;B;B;D;B;B	0.89917	0.0;0.0;0.0;1.0;0.0;0.0	B;B;B;D;B;B	0.83275	0.0;0.0;0.001;0.996;0.0;0.0	T	0.19128	-1.0315	9	0.16420	T	0.52	-1.3894	7.235	0.26064	0.0:0.0825:0.4685:0.449	.	107;107;107;107;107;107	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.;.;.;.;.;BLNK_HUMAN	T	107	.	ENSP00000224337:P107T	P	-	1	0	BLNK	97977198	0.588000	0.26799	0.142000	0.22268	0.858000	0.48976	0.794000	0.26958	0.134000	0.18681	-0.410000	0.06199	CCG			0.627	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049593.1		NM_013314		T	97987208	G	T	97987208	3	4	22	1	0	0	0	0	1	0	0	0	1447	1203	42	2	1103	2	BLNK	10	97987208	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	2660712	97987208	37547539	38	1422											
GPAM	57678	mdanderson.org	37	chr10	113924339	113924339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaaagtagagcagacacCggtttctgactttggctttc	10	11	12	8	1	1	3	0	1	1	2	2	4	1	4	1	3	1	4	1	3	2	4	rs140253495	byFrequency	TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr10:113924339C>T	ENST00000348367.4	-	13	1448	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	GPAM_ENST00000423155.1_Silent_p.P417P|GPAM_ENST00000369425.1_Silent_p.P417P			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	417					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)		GAGCAGACACCGGTTTCTGAC	0.363													C|||	2	0.000399361	0.0015	0	5008	,	,		17325	0		0	False		,,,				2504	0				p.P417P	Ovarian(161;1017 2606 18293 52943)												GPAM,NS,carcinoma,-1,1	GPAM	-1	1	0			c.G1251A												69	72	71					10																	113924339		2203	4300	6503	SO:0001819	synonymous_variant	57678	exon13			AGACACCGGTTTC	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.1251G>A	10.37:g.113924339C>T			96	0	0		51	0.06	3	NM_020918	8	0	0	Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	CCDS7570.1																																																																																					0.363	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050377.1		NM_020918		T	113924339	C	T	113924339	2	4	22	1	0	0	0	0	0	0	0	1	6602	639	23	1		1	GPAM	10	113924339	Silent	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	15937131	113924339	21610408	39	1423											
TCERG1L	256536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	133106529	133106529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcctggaggcaggagcCggcctggacagagacacagc	10	2	17	12	2	0	1	0	0	0	1	0	5	0	4	3	6	3	1	3	6	0	0			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr10:133106529C>T	ENST00000368642.4	-	3	700	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	205								p.P164P(1)		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)		AGGCAGGAGCCGGCCTGGACA	0.522																																					p.P205P													TCERG1L,colon,carcinoma,-2,4	TCERG1L	-2	4	1	Substitution - coding silent(1)	ovary(1)	c.G615A												57	55	56					10																	133106529		2203	4300	6503	SO:0001819	synonymous_variant	256536	exon3			AGGAGCCGGCCTG	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.615G>A	10.37:g.133106529C>T			171	0	0		112	0.43	48	NM_174937	9	0.78	7	Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	CCDS7662.2																																																																																					0.522	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091619.2		NM_174937		T	133106529	C	T	133106529	2	4	22	1	0	0	0	0	0	0	0	1	15709	639	23	1		1	TCERG1L	10	133106529	Silent	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	19182190	133106529	2428218	40	1424											
NLRP6	171389	bcgsc.ca	37	chr11	279526	279526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctacggcccggagcctGccctggaggtggcccgcaag	6	6	15	14	3	1	0	0	0	1	0	1	2	1	2	4	5	3	2	4	5	2	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr11:279526G>T	ENST00000312165.5	+	2	229	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	NLRP6_ENST00000534750.1_Missense_Mutation_p.A77S	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	77	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		CCCGGAGCCTGCCCTGGAGGT	0.761																																					p.A77S													.	NLRP6	4		0			c.G229T												3	4	3					11																	279526		1750	3461	5211	SO:0001583	missense	171389	exon2			GAGCCTGCCCTGG	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.229G>T	11.37:g.279526G>T	ENSP00000309767:p.Ala77Ser		25	0	0		16	0.25	4	NM_138329	0		0	A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356661	0.61293	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.68025	-0.3;-0.3	3.71	3.71	0.42584	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.79759	0.4501	M	0.72576	2.205	0.37680	D	0.923463	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.994	D	0.84626	0.0687	9	0.87932	D	0	.	13.785	0.63104	0.0:0.0:1.0:0.0	.	77;77	E9PJZ8;P59044	.;NALP6_HUMAN	S	77	ENSP00000433617:A77S;ENSP00000309767:A77S	ENSP00000309767:A77S	A	+	1	0	NLRP6	269526	0.904000	0.30761	0.053000	0.19242	0.017000	0.09413	2.335000	0.43929	2.009000	0.58944	0.491000	0.48974	GCC			0.761	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239283.1		NM_138329		T	279526	G	T	279526	3	4	22	1	0	0	0	0	1	0	0	0	10498	1319	46	2	235	2	NLRP6	11	279526	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		279526	134726990	41	1425											
ATHL1	80162	mdanderson.org	37	chr11	292550	292550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcccaacccctcagggagCcaagtttgcctgggagagtg	8	7	12	14	0	1	1	1	0	0	1	2	3	2	2	6	2	3	1	6	2	2	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr11:292550C>T	ENST00000409548.2	+	6	1146	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	ATHL1_ENST00000409479.1_Missense_Mutation_p.A344V|ATHL1_ENST00000409655.1_Missense_Mutation_p.A167V	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	344					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		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;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTCAGGGAGCCAAGTTTGCC	0.662																																					p.A344V													.	.			0			c.C1031T												46	41	43					11																	292550		2203	4300	6503	SO:0001583	missense	80162	exon6			AGGGAGCCAAGTT	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1031C>T	11.37:g.292550C>T	ENSP00000387185:p.Ala344Val		67	0	0		35	0.09	3	NM_025092	17	0	0	Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	ENST00000409548.2	37	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	c	22.0	4.232708	0.79688	.	.	ENSG00000142102	ENST00000409548;ENST00000409655;ENST00000409479	.	.	.	4.14	4.14	0.48551	Glycoside hydrolase, family 65, central catalytic (1);Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.145234	0.46758	D	0.000273	T	0.78578	0.4305	M	0.83953	2.67	0.40138	D	0.976806	D;D;D	0.67145	0.988;0.967;0.996	D;P;P	0.65323	0.934;0.897;0.824	T	0.82267	-0.0542	9	0.49607	T	0.09	.	15.5652	0.76287	0.0:1.0:0.0:0.0	.	344;344;167	Q32M88;E7EMA9;B8ZZ60	ATHL1_HUMAN;.;.	V	344;167;344	.	ENSP00000387099:A344V	A	+	2	0	ATHL1	282550	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.031000	0.57267	2.154000	0.67381	0.550000	0.68814	GCC			0.662	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330164.3		NM_025092		T	292550	C	T	292550	3	4	22	1	0	0	0	0	1	0	0	0	1104	739	26	2	1049	2	ATHL1	11	292550	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	13024	292550	134713966	42	1426											
MICAL2	9645	mdanderson.org	37	chr11	12244987	12244987	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatatcactaaggagctGgagcactaccctctcgagag	11	10	10	10	1	2	1	1	0	1	1	3	4	2	3	1	2	3	3	1	2	4	5			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr11:12244987G>T	ENST00000256194.4	+	12	1767	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	MICAL2_ENST00000537344.1_Silent_p.L493L|MICAL2_ENST00000527546.1_Silent_p.L493L|MICAL2_ENST00000342902.5_Silent_p.L493L|MICAL2_ENST00000379612.3_Silent_p.L493L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	493	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTAAGGAGCTGGAGCACTACC	0.557																																					p.L493L													.	.			0			c.G1479T												111	104	106					11																	12244987		2201	4294	6495	SO:0001819	synonymous_variant	9645	exon12			GGAGCTGGAGCAC	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1479G>T	11.37:g.12244987G>T			73	0	0		50	0.06	3	NM_014632	1	0	0	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	CCDS7809.1																																																																																					0.557	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385993.1		NM_014632		T	12244987	G	T	12244987	2	4	22	1	0	0	0	0	0	0	0	1	9586	1335	47	3		3	MICAL2	11	12244987	Silent	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	11952437	12244987	122761529	43	1427											
RAB3IL1	5866	mdanderson.org	37	chr11	61674072	61674072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggggctcagcagctgggGgtgaagctcgcggttgggag	5	7	22	7	2	1	1	1	1	0	0	2	2	1	2	0	7	3	5	0	7	1	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr11:61674072G>T	ENST00000394836.2	-	5	680	c.523C>A	c.(523-525)Ccc>Acc	p.P175T	RAB3IL1_ENST00000301773.5_Intron	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	175					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						AGCAGCTGGGGGTGAAGCTCG	0.662																																					p.P175T													.	.			0			c.C523A												49	44	46					11																	61674072		2202	4299	6501	SO:0001583	missense	5866	exon5			GCTGGGGGTGAAG	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.523C>A	11.37:g.61674072G>T	ENSP00000378313:p.Pro175Thr		38	0	0		31	0.1	3	NM_013401	8	0	0	Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253005	0.80135	.	.	ENSG00000167994	ENST00000394836;ENST00000531922	T;T	0.54479	1.27;0.57	4.59	3.65	0.41850	.	0.064436	0.64402	D	0.000006	T	0.70011	0.3175	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.72871	-0.4161	10	0.52906	T	0.07	0.3964	12.736	0.57225	0.0827:0.0:0.9173:0.0	.	175	Q8TBN0	R3GEF_HUMAN	T	175;222	ENSP00000378313:P175T;ENSP00000435444:P222T	ENSP00000378313:P175T	P	-	1	0	RAB3IL1	61430648	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.571000	0.82399	2.368000	0.80403	0.561000	0.74099	CCC			0.662	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394917.1		NM_013401		T	61674072	G	T	61674072	3	4	22	1	0	0	0	0	1	0	0	0	12960	1232	43	3	649	3	RAB3IL1	11	61674072	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	49429085	61674072	73332444	44	1428											
SYT12	91683	mdanderson.org	37	chr11	66802170	66802170	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatgctgcaggggccctggCcctgctgggaatcgcagctg	5	8	15	13	1	0	0	0	0	0	0	1	1	0	1	2	4	4	5	2	4	2	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr11:66802170C>A	ENST00000393946.2	+	6	1251	c.89C>A	c.(88-90)gCc>gAc	p.A30D	SYT12_ENST00000527043.1_Missense_Mutation_p.A30D|SYT12_ENST00000525457.1_Missense_Mutation_p.A30D|SYT12_ENST00000526281.1_Intron			Q8IV01	SYT12_HUMAN	synaptotagmin XII	30						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						GGGGCCCTGGCCCTGCTGGGA	0.612																																					p.A30D	Ovarian(65;2862 3307)												.	.			0			c.C89A												59	66	63					11																	66802170		2200	4295	6495	SO:0001583	missense	91683	exon3			CCCTGGCCCTGCT	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.89C>A	11.37:g.66802170C>A	ENSP00000377520:p.Ala30Asp		47	0	0		40	0.08	3	NM_177963	2	0	0		Missense_Mutation	SNP	ENST00000393946.2	37	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403012	0.62288	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.13089	2.62;2.62;2.62	4.94	4.02	0.46733	.	0.139238	0.48767	D	0.000165	T	0.08179	0.0204	N	0.19112	0.55	0.39727	D	0.971556	P	0.44578	0.838	B	0.36134	0.218	T	0.12656	-1.0539	10	0.87932	D	0	.	10.3093	0.43699	0.0:0.9038:0.0:0.0962	.	30	Q8IV01	SYT12_HUMAN	D	30	ENSP00000377520:A30D;ENSP00000431400:A30D;ENSP00000435316:A30D	ENSP00000377520:A30D	A	+	2	0	SYT12	66558746	0.922000	0.31269	0.937000	0.37676	0.960000	0.62799	1.783000	0.38664	2.276000	0.75962	0.563000	0.77884	GCC			0.612	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393129.1		NM_177963		A	66802170	C	A	66802170	3	1	22	1	0	0	0	0	1	0	0	0	15491	739	26	2	95	2	SYT12	11	66802170	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	5128098	66802170	68204346	45	1429											
DLG2	1740	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	83180284	83180284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagactgcacactggttccaTataaattgtcattgtactgg	11	13	8	9	0	1	1	1	0	0	1	2	1	2	1	1	2	2	3	1	2	4	6			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr11:83180284T>C	ENST00000532653.1	-	20	2512	c.2210A>G	c.(2209-2211)tAt>tGt	p.Y737C	DLG2_ENST00000280241.8_Missense_Mutation_p.Y794C|DLG2_ENST00000398309.2_Missense_Mutation_p.Y755C|DLG2_ENST00000426717.2_Missense_Mutation_p.Y219C|DLG2_ENST00000537455.1_Missense_Mutation_p.Y505C|DLG2_ENST00000543673.1_Missense_Mutation_p.Y860C|DLG2_ENST00000524982.1_Missense_Mutation_p.Y751C|DLG2_ENST00000376106.3_Missense_Mutation_p.Y219C|DLG2_ENST00000376104.2_Missense_Mutation_p.Y860C|DLG2_ENST00000330014.6_Missense_Mutation_p.Y676C|DLG2_ENST00000418306.2_Missense_Mutation_p.Y634C|DLG2_ENST00000404783.3_Missense_Mutation_p.Y233C|DLG2_ENST00000531015.1_Missense_Mutation_p.Y722C			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	451					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACTGGTTCCATATAAATTGTC	0.413																																					p.Y860C													.	.			0			c.A2579G												259	238	245					11																	83180284		1877	4113	5990	SO:0001583	missense	1740	exon25			GTTCCATATAAAT	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2210A>G	11.37:g.83180284T>C	ENSP00000435849:p.Tyr737Cys		173	0	0		134	0.36	48	NM_001142699	5	0.4	2	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	T	22.9	4.353959	0.82243	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000457267	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.72	5.72	0.89469	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000007	D	0.85613	0.5737	H	0.98370	4.215	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;0.999;1.0;1.0	D	0.91311	0.5074	9	.	.	.	.	16.0037	0.80327	0.0:0.0:0.0:1.0	.	722;737;751;676;233;860;755;634	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	C	755;219;860;634;860;794;233;676;505;219;751;737;860;722;107	ENSP00000381355:Y755C;ENSP00000393049:Y219C;ENSP00000365272:Y860C;ENSP00000402275:Y634C;ENSP00000441994:Y860C;ENSP00000280241:Y794C;ENSP00000385113:Y233C;ENSP00000381353:Y676C;ENSP00000443248:Y505C;ENSP00000365274:Y219C;ENSP00000432894:Y751C;ENSP00000435849:Y737C;ENSP00000433848:Y722C;ENSP00000409133:Y107C	.	Y	-	2	0	DLG2	82857932	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.184000	0.69523	0.533000	0.62120	TAT			0.413	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000259253.2		NM_001364		C	83180284	T	C	83180284	3	2	22	1	0	0	0	0	1	0	0	0	4560	1406	49	4	364	4	DLG2	11	83180284	Missense_Mutation	SNP	T	TCGA-2G-AAG7-01A-11D-A42Y-10	16378114	83180284	51826232	46	1430											
SIK3	23387	mdanderson.org	37	chr11	116746687	116746687	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatcacacagcaggctgtaGattgcactatagtgatcata	13	10	9	9	1	2	2	2	1	0	1	2	3	2	2	0	1	2	4	0	1	4	5			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr11:116746687G>T	ENST00000292055.4	-	9	995	c.960C>A	c.(958-960)atC>atA	p.I320I	SIK3_ENST00000434315.2_Silent_p.I219I|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Silent_p.I378I|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	320	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCAGGCTGTAGATTGCACTAT	0.468																																					p.I320I													.	.			0			c.C960A												108	99	102					11																	116746687		2201	4296	6497	SO:0001819	synonymous_variant	23387	exon9			GCTGTAGATTGCA	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.960C>A	11.37:g.116746687G>T			47	0	0		17	0.12	2	NM_025164	8	0	0	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	9.301	1.053215	0.19907	.	.	ENSG00000160584	ENST00000445177;ENST00000413553	.	.	.	5.45	4.54	0.55810	.	.	.	.	.	T	0.69700	0.3140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68754	-0.5325	4	.	.	.	.	13.9355	0.64023	0.0732:0.0:0.9268:0.0	.	.	.	.	I	372;281	.	.	L	-	1	2	SIK3	116251897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.138000	0.77305	1.297000	0.44761	0.555000	0.69702	CTA			0.468	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				NM_025164		T	116746687	G	T	116746687	2	4	22	1	0	0	0	0	0	0	0	1	14342	932	33	3		3	SIK3	11	116746687	Silent	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	33566403	116746687	18259829	47	1431											
NCKAP5L	57701	mdanderson.org	37	chr12	50190598	50190598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggtggtccccattgagtgGgcctgcagccccggccagga	5	7	16	13	1	0	1	0	1	0	0	1	2	1	2	6	5	2	1	6	5	0	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr12:50190598G>T	ENST00000335999.6	-	8	1246	c.1045C>A	c.(1045-1047)Cca>Aca	p.P349T		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	345	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCATTGAGTGGGCCTGCAGCC	0.652																																					p.P349T													.	.			0			c.C1045A												21	24	23					12																	50190598		1926	4126	6052	SO:0001583	missense	57701	exon8			TGAGTGGGCCTGC	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1045C>A	12.37:g.50190598G>T	ENSP00000337998:p.Pro349Thr		42	0	0		33	0.09	3	NM_001037806	10	0	0	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.965299|3.965299	0.74131|0.74131	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000433948|ENST00000335999;ENST00000354423	.|T	.|0.48201	.|0.82	4.12|4.12	4.12|4.12	0.48240|0.48240	.|.	0.000000|0.000000	0.41605|0.41605	D|D	0.000858|0.000858	T|T	0.33527|0.33527	0.0866|0.0866	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999971|0.999971	.|D	.|0.56968	.|0.978	.|P	.|0.50659	.|0.647	T|T	0.12192|0.12192	-1.0557|-1.0557	6|10	.|0.24483	.|T	.|0.36	-6.6864|-6.6864	10.9043|10.9043	0.47071|0.47071	0.0:0.0:0.8118:0.1882|0.0:0.0:0.8118:0.1882	.|.	.|345	.|E2QRB5	.|.	H|T	63|349;345	.|ENSP00000337998:P349T	.|ENSP00000337998:P349T	P|P	-|-	2|1	0|0	NCKAP5L|NCKAP5L	48476865|48476865	0.155000|0.155000	0.22806|0.22806	0.995000|0.995000	0.50966|0.50966	0.832000|0.832000	0.47134|0.47134	2.269000|2.269000	0.43346|0.43346	2.032000|2.032000	0.59987|0.59987	0.462000|0.462000	0.41574|0.41574	CCC|CCA			0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346884.2		XM_035497		T	50190598	G	T	50190598	3	4	22	1	0	0	0	0	1	0	0	0	10241	1232	43	3	2983	3	NCKAP5L	12	50190598	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		50190598	83661297	48	1432											
FOXN4	121643	broad.mit.edu	37	chr12	109719430	109719430	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctggtggtgcagggggActgactgcagggacagggtc	7	6	20	8	0	0	1	0	1	0	0	1	4	0	4	1	7	2	2	1	7	0	0			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr12:109719430A>G	ENST00000299162.5	-	9	1180	c.1076T>C	c.(1075-1077)gTc>gCc	p.V359A	FOXN4_ENST00000355216.1_Missense_Mutation_p.V179A	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	359					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						GTGCAGGGGGACTGACTGCAG	0.692																																					p.V359A													.	FOXN4	74		0			c.T1076C												40	24	29					12																	109719430		2202	4299	6501	SO:0001583	missense	121643	exon9			AGGGGGACTGACT	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1076T>C	12.37:g.109719430A>G	ENSP00000299162:p.Val359Ala		118	0.0084745763	1		117	0.05	6	NM_213596	0		0	Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326225	0.24080	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.94537	-3.45;-3.06	4.55	2.14	0.27477	.	0.765740	0.11893	N	0.519378	D	0.90335	0.6976	L	0.51422	1.61	0.09310	N	1	B;B	0.26002	0.081;0.139	B;B	0.26614	0.071;0.055	T	0.77975	-0.2385	10	0.20519	T	0.43	-15.1402	6.8394	0.23955	0.7679:0.1518:0.0803:0.0	.	359;359	A6H901;Q96NZ1	.;FOXN4_HUMAN	A	179;359	ENSP00000347354:V179A;ENSP00000299162:V359A	ENSP00000299162:V359A	V	-	2	0	FOXN4	108203813	0.202000	0.23423	0.202000	0.23494	0.899000	0.52679	4.419000	0.59835	0.343000	0.23821	0.454000	0.30748	GTC			0.692	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328306.1		XM_062735		G	109719430	A	G	109719430	3	3	22	1	0	0	0	0	1	0	0	0	6035	275	10	4	485	4	FOXN4	12	109719430	Missense_Mutation	SNP	A	TCGA-2G-AAG7-01A-11D-A42Y-10	59528832	109719430	24132465	49	1433											
NOC4L	79050	mdanderson.org	37	chr12	132632512	132632512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgtctccagcttctatGtgaagcgggcgggtgagtgt	6	10	14	11	3	2	2	0	2	2	0	3	2	2	2	3	2	2	1	3	2	2	2	rs149306359	byFrequency	TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr12:132632512G>T	ENST00000330579.1	+	6	732	c.691G>T	c.(691-693)Gtg>Ttg	p.V231L	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	231					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CAGCTTCTATGTGAAGCGGGC	0.667																																					p.V231L													.	.			0			c.G691T												30	29	29					12																	132632512		2194	4298	6492	SO:0001583	missense	79050	exon6			TTCTATGTGAAGC		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.691G>T	12.37:g.132632512G>T	ENSP00000328854:p.Val231Leu		56	0.0178571429	1		48	0.06	3	NM_024078	89	0	0	Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	g	9.542	1.113576	0.20795	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.32515	1.45;1.45	5.17	5.17	0.71159	.	0.126174	0.52532	D	0.000080	T	0.31979	0.0814	L	0.55481	1.735	0.80722	D	1	B	0.26902	0.163	B	0.31245	0.126	T	0.06409	-1.0828	10	0.27785	T	0.31	-28.5576	14.1942	0.65659	0.0:0.0:1.0:0.0	.	231	Q9BVI4	NOC4L_HUMAN	L	231;198	ENSP00000328854:V231L;ENSP00000438255:V198L	ENSP00000328854:V231L	V	+	1	0	NOC4L	131198465	0.996000	0.38824	0.309000	0.25155	0.007000	0.05969	3.412000	0.52679	2.409000	0.81822	0.558000	0.71614	GTG			0.667	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398999.1		NM_024078		T	132632512	G	T	132632512	3	4	22	1	0	0	0	0	1	0	0	0	10532	1377	48	3	713	3	NOC4L	12	132632512	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	22913082	132632512	1219383	50	1434											
TPTE2	93492	broad.mit.edu;mdanderson.org	37	chr13	20025336	20025336	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactcgatagtggtttcgAtgtttcttatctagaaaccg	10	15	9	7	3	2	2	0	0	2	2	4	4	2	2	1	1	1	2	1	1	5	6	rs545861513	byFrequency	TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr13:20025336A>G	ENST00000400230.2	-	11	815	c.771T>C	c.(769-771)caT>caC	p.H257H	TPTE2_ENST00000457266.2_Silent_p.H146H|TPTE2_ENST00000382975.4_Silent_p.H217H|TPTE2_ENST00000382977.4_Silent_p.H257H|TPTE2_ENST00000382978.1_Silent_p.H217H|TPTE2_ENST00000390680.2_Silent_p.H180H|TPTE2_ENST00000255310.6_Silent_p.H180H|TPTE2_ENST00000400103.2_Silent_p.H146H			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	257	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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)		AGTGGTTTCGATGTTTCTTAT	0.358													a|||	6	0.00119808	0.003	0.0014	5008	,	,		20859	0		0.001	False		,,,				2504	0				p.H257H													.	TPTE2	225		0			c.T771C												132	116	122					13																	20025336		2203	4299	6502	SO:0001819	synonymous_variant	93492	exon12			GTTTCGATGTTTC	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.771T>C	13.37:g.20025336A>G			55	0	0		51	0.16	8	NM_199254	0		0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	CCDS45014.1																																																																																					0.358	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_199254		G	20025336	A	G	20025336	2	3	22	1	0	0	0	0	0	0	0	1	16455	330	12	4		4	TPTE2	13	20025336	Silent	SNP	A	TCGA-2G-AAG7-01A-11D-A42Y-10		20025336	95144542	51	1435											
HMGB1	3146	broad.mit.edu	37	chr13	31035512	31035512	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttattcatcatcatcatcTtcttcttcatcttcatcttc	8	20	0	13	0	11	0	6	0	5	0	12	0	11	0	0	0	0	0	0	0	1	7	rs200836895	byFrequency	TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr13:31035512T>A	ENST00000405805.1	-	5	1570	c.630A>T	c.(628-630)gaA>gaT	p.E210D	HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D			P09429	HMGB1_HUMAN	high mobility group box 1	210	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)		CATCAtcatcttcttcttcat	0.378													T|||	6	0.00119808	0.003	0	5008	,	,		18295	0		0	False		,,,				2504	0.002				p.E210D													.	HMGB1	21		0			c.A630T												20	25	23					13																	31035512		1894	4135	6029	SO:0001583	missense	3146	exon5			ATCATCTTCTTCT	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.630A>T	13.37:g.31035512T>A	ENSP00000384678:p.Glu210Asp		58	0	0		40	0.08	3	NM_002128	752	0	3	A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336740	0.41398	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399494	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.68	-1.58	0.08479	Armadillo-like helical (1);	0.305542	0.22770	N	0.055856	T	0.33440	0.0863	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.02901	-1.1096	10	0.87932	D	0	.	4.5078	0.11896	0.474:0.2443:0.0:0.2817	.	171;210	B3KQ05;P09429	.;HMGB1_HUMAN	D	210	ENSP00000384678:E210D;ENSP00000343040:E210D;ENSP00000345347:E210D;ENSP00000382417:E210D	ENSP00000343040:E210D	E	-	3	2	HMGB1	29933512	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	0.152000	0.16302	-0.149000	0.11215	-0.276000	0.10085	GAA			0.378	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000303998.2		NM_002128		A	31035512	T	A	31035512	3	1	22	1	0	0	0	0	1	0	0	0	7240	1606	56	5	21	5	HMGB1	13	31035512	Missense_Mutation	SNP	T	TCGA-2G-AAG7-01A-11D-A42Y-10	11010176	31035512	84134366	52	1436											
TECPR2	9895	mdanderson.org	37	chr14	102963955	102963955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaggaccgtgtgggcccGctgtccaaacggagacctcg	8	5	13	15	4	0	1	0	0	0	1	2	3	1	2	5	3	1	1	5	3	1	0			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr14:102963955G>T	ENST00000359520.7	+	19	4206	c.3980G>T	c.(3979-3981)cGc>cTc	p.R1327L		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1327					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						GTGTGGGCCCGCTGTCCAAAC	0.667																																					p.R1327L													.	.			0			c.G3980T												15	17	16					14																	102963955		2198	4294	6492	SO:0001583	missense	9895	exon19			GGGCCCGCTGTCC	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.3980G>T	14.37:g.102963955G>T	ENSP00000352510:p.Arg1327Leu		46	0	0		47	0.06	3	NM_014844	14	0	0	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101914	0.37048	.	.	ENSG00000196663	ENST00000359520	T	0.12039	2.72	5.54	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	N	0.02916	-0.46	0.80722	D	1	D;D	0.64830	0.987;0.994	P;D	0.62955	0.83;0.909	T	0.10730	-1.0617	10	0.02654	T	1	.	14.9996	0.71462	0.0818:0.0:0.9182:0.0	.	510;1327	B4DSD3;O15040	.;TCPR2_HUMAN	L	1327	ENSP00000352510:R1327L	ENSP00000352510:R1327L	R	+	2	0	TECPR2	102033708	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.516000	0.81772	2.619000	0.88677	0.455000	0.32223	CGC			0.667	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415056.2		NM_014844		T	102963955	G	T	102963955	3	4	22	1	0	0	0	0	1	0	0	0	15767	1087	38	1	4065	1	TECPR2	14	102963955	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		102963955	4385585	53	1437											
C15orf42	90381	mdanderson.org	37	chr15	90168927	90168927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgtgacctgagagaaGattcagaagttagtaagagt	14	10	13	4	0	2	6	1	2	1	4	2	8	2	7	1	1	0	2	1	1	4	3			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr15:90168927G>T	ENST00000268138.7	+	20	5491	c.5386G>T	c.(5386-5388)Gat>Tat	p.D1796Y	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.D1795Y			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1796					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)										CCTGAGAGAAGATTCAGAAGT	0.517																																					p.D1796Y													.	.			0			c.G5386T												49	53	51					15																	90168927		2200	4299	6499	SO:0001583	missense	90381	exon20			AGAGAAGATTCAG	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.5386G>T	15.37:g.90168927G>T	ENSP00000268138:p.Asp1796Tyr		56	0	0		58	0.07	4	NM_152259	50	0	0	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595761	0.46318	.	.	ENSG00000140534	ENST00000268138	T	0.10005	2.92	5.2	3.29	0.37713	.	0.159575	0.37178	N	0.002212	T	0.21186	0.0510	M	0.66939	2.045	0.09310	N	0.999999	D	0.60160	0.987	P	0.55303	0.773	T	0.02728	-1.1118	10	0.72032	D	0.01	-7.3083	9.2387	0.37481	0.2384:0.0:0.7615:0.0	.	1796	Q7Z2Z1	TICRR_HUMAN	Y	1796	ENSP00000268138:D1796Y	ENSP00000268138:D1796Y	D	+	1	0	C15orf42	87969931	0.876000	0.30132	0.029000	0.17559	0.092000	0.18411	3.618000	0.54188	1.322000	0.45245	-0.136000	0.14681	GAT			0.517	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000312856.1		NM_152259		T	90168927	G	T	90168927	3	4	22	1	0	0	0	0	1	0	0	0	1798	942	33	3	5464	3	C15orf42	15	90168927	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		90168927	12362465	54	1438											
ZNF646	9726	mdanderson.org	37	chr16	31087950	31087950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacatgctcctgagggccGccgcaggcacaggcccccac	8	3	12	18	2	0	1	0	1	0	0	1	2	1	1	5	3	1	3	5	3	0	0	rs143373931	byFrequency	TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr16:31087950G>T	ENST00000394979.2	+	1	728	c.305G>T	c.(304-306)cGc>cTc	p.R102L	ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.R102L|ZNF668_ENST00000564456.1_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	102					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						CCTGAGGGCCGCCGCAGGCAC	0.612																																					p.R102L													ZNF646,right_lower_lobe,carcinoma,0,1	ZNF646	0	1	0			c.G305T												39	37	38					16																	31087950		2197	4300	6497	SO:0001583	missense	9726	exon2			AGGGCCGCCGCAG	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.305G>T	16.37:g.31087950G>T	ENSP00000378429:p.Arg102Leu		22	0	0		31	0.1	3	NM_014699	11	0	0	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	G	14.19	2.460122	0.43736	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.08370	3.37;3.1;3.11	5.65	2.64	0.31445	.	.	.	.	.	T	0.11495	0.0280	L	0.27053	0.805	0.27042	N	0.963987	D	0.56746	0.977	P	0.55303	0.773	T	0.18241	-1.0343	9	0.38643	T	0.18	-6.6766	9.7986	0.40751	0.2185:0.0:0.7815:0.0	.	102	O15015-2	.	L	102	ENSP00000391271:R102L;ENSP00000300850:R102L;ENSP00000378429:R102L	ENSP00000300850:R102L	R	+	2	0	ZNF646	30995451	0.662000	0.27439	0.940000	0.37924	0.966000	0.64601	1.239000	0.32719	0.318000	0.23185	-0.251000	0.11542	CGC			0.612	ZNF646-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000108510.2		NM_014699		T	31087950	G	T	31087950	3	4	22	1	0	0	0	0	1	0	0	0	18085	1087	38	1	307	1	ZNF646	16	31087950	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		31087950	59266803	55	1439											
COG8	84342	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	69368744	69368744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaacaggagccaactgacCccggaaatcagctcccaccc	14	3	8	16	1	1	1	1	1	0	0	2	4	2	3	5	2	4	1	5	2	4	0			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr16:69368744C>A	ENST00000306875.4	-	3	1207	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	COG8_ENST00000562081.1_Missense_Mutation_p.G365C|RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.G11C	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	365					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCCAACTGACCCCGGAAATCA	0.552																																					p.G365C													.	.			0			c.G1093T												64	69	67					16																	69368744		2198	4300	6498	SO:0001583	missense	84342	exon3			ACTGACCCCGGAA	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.1093G>T	16.37:g.69368744C>A	ENSP00000305459:p.Gly365Cys		77	0	0		76	0.21	16	NM_032382	42	0.17	7	Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714723	0.68730	.	.	ENSG00000213380	ENST00000306875	T	0.50001	0.76	6.04	5.1	0.69264	Cullin repeat-like-containing domain (1);	0.044107	0.85682	D	0.000000	T	0.69904	0.3163	M	0.81341	2.54	0.54753	D	0.999985	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.74556	-0.3626	10	0.59425	D	0.04	-0.7164	15.5066	0.75745	0.0:0.9339:0.0:0.0661	.	392;365	B4DYU2;Q96MW5	.;COG8_HUMAN	C	365	ENSP00000305459:G365C	ENSP00000305459:G365C	G	-	1	0	COG8	67926245	1.000000	0.71417	0.998000	0.56505	0.524000	0.34500	4.633000	0.61318	1.567000	0.49668	0.563000	0.77884	GGT			0.552	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268948.2		NM_032382		A	69368744	C	A	69368744	3	1	22	1	0	0	0	0	1	0	0	0	3666	623	22	3	757	3	COG8	16	69368744	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	38280794	69368744	20986009	56	1440											
DBNDD1	79007	mdanderson.org	37	chr16	90075739	90075739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggtgctggtactgggatgCccccgacctcctcctccaca	5	8	10	18	2	0	0	0	0	0	0	3	2	3	1	7	3	3	2	7	3	1	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr16:90075739C>T	ENST00000002501.6	-	2	262	c.131G>A	c.(130-132)gGc>gAc	p.G44D	DBNDD1_ENST00000304733.3_Missense_Mutation_p.G64D|DBNDD1_ENST00000568838.1_Missense_Mutation_p.G164D|DBNDD1_ENST00000392973.3_Missense_Mutation_p.G50D	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	44						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		TACTGGGATGCCCCCGACCTC	0.687																																					p.G64D													.	.			0			c.G191A												58	72	67					16																	90075739		2079	4188	6267	SO:0001583	missense	79007	exon2			GGGATGCCCCCGA	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.131G>A	16.37:g.90075739C>T	ENSP00000002501:p.Gly44Asp		41	0	0		40	0.08	3	NM_024043	22	0	0	B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	ENST00000002501.6	37	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972126	0.53614	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.33865	1.39;1.39	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.78637	2.42	0.25987	N	0.982296	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	T	0.58864	-0.7561	9	.	.	.	-47.947	17.452	0.87594	0.0:1.0:0.0:0.0	.	44;64	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	D	64;44;164	ENSP00000306407:G64D;ENSP00000002501:G44D	.	G	-	2	0	DBNDD1	88603240	0.974000	0.33945	0.658000	0.29665	0.586000	0.36452	4.066000	0.57520	2.216000	0.71823	0.467000	0.42956	GGC			0.687	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272872.1		NM_024043		T	90075739	C	T	90075739	3	4	22	1	0	0	0	0	1	0	0	0	4255	739	26	2	357	2	DBNDD1	16	90075739	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	20706995	90075739	279014	57	1441											
STAC2	342667	bcgsc.ca	37	chr17	37381749	37381749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctccttctcgctcatctCggtcatggttcggggagagg	4	13	13	11	3	5	1	2	0	3	1	9	2	5	1	1	5	0	3	1	5	0	3			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr17:37381749C>T	ENST00000333461.5	-	1	376	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	3					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						TCGCTCATCTCGGTCATGGTT	0.692																																					p.E3K													.	STAC2	47		0			c.G7A												76	58	64					17																	37381749		2203	4300	6503	SO:0001583	missense	342667	exon1			TCATCTCGGTCAT	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.7G>A	17.37:g.37381749C>T	ENSP00000327509:p.Glu3Lys		32	0	0		39	0.1	4	NM_198993	1	0	0	Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	35	5.537964	0.96460	.	.	ENSG00000141750	ENST00000333461	D	0.81579	-1.51	5.27	5.27	0.74061	.	0.314323	0.23317	N	0.049483	T	0.79329	0.4427	N	0.22421	0.69	0.36809	D	0.885785	D	0.71674	0.998	P	0.55222	0.771	D	0.84536	0.0636	10	0.87932	D	0	-4.3934	14.3984	0.67027	0.0:1.0:0.0:0.0	.	3	Q6ZMT1	STAC2_HUMAN	K	3	ENSP00000327509:E3K	ENSP00000327509:E3K	E	-	1	0	STAC2	34635275	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.859000	0.62954	2.469000	0.83416	0.455000	0.32223	GAG			0.692	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444533.2		NM_198993		T	37381749	C	T	37381749	3	4	22	1	0	0	0	0	1	0	0	0	15263	893	31	1	1272	1	STAC2	17	37381749	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10		37381749	43813461	58	1442											
USP32	84669	mdanderson.org	37	chr17	58303401	58303401	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaataggtcatatttaccGctgccagcagtttctgaggc	9	11	12	9	1	2	1	1	1	1	0	2	2	2	2	2	3	3	3	2	3	4	5	rs76017156	byFrequency	TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr17:58303401G>A	ENST00000300896.4	-	13	1625	c.1431C>T	c.(1429-1431)agC>agT	p.S477S	USP32_ENST00000592339.1_Splice_Site_p.S147S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	477	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CATATTTACCGCTGCCAGCAG	0.373													G|||	3	0.000599042	0.0023	0	5008	,	,		17518	0		0	False		,,,				2504	0				p.S477S													.	.			0			c.C1431T							G		30,4376	36.8+/-68.6	0,30,2173	99	100	100		1431	-1.8	0.2	17	dbSNP_131	100	1,8599		0,1,4299	yes	coding-synonymous-near-splice	USP32	NM_032582.3		0,31,6472	AA,AG,GG		0.0116,0.6809,0.2384		477/1605	58303401	31,12975	2203	4300	6503	SO:0001630	splice_region_variant	84669	exon13			TTTACCGCTGCCA	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1432+1C>T	17.37:g.58303401G>A			61	0	0		56	0.05	3	NM_032582	54	0	0	Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	CCDS32697.1																																																																																			0.002		0.373	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449235.2		NM_032582	Silent	A	58303401	G	A	58303401	5	1	22	1	0	0	0	0	0	0	1	0	17087	1101	38	1	3471	1	USP32	17	58303401	Splice_Site	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	20921652	58303401	22891809	59	1443											
BPTF	2186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	65890193	65890193	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgtagcaaacccagaGaatttgcattggctttagcc	12	11	10	8	0	0	2	0	0	0	2	0	3	0	2	2	1	4	4	2	1	4	5			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr17:65890193G>T	ENST00000321892.4	+	9	2894	c.2833G>T	c.(2833-2835)Gaa>Taa	p.E945*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.E945*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.E806*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.E819*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	945					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)	p.E945*(1)|p.E819*(1)		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)			CAAACCCAGAGAATTTGCATT	0.378																																					p.E945X													BPTF_ENST00000335221,caecum,carcinoma,0,4	BPTF_ENST00000335221	0	4	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2833T												144	136	139					17																	65890193		2203	4300	6503	SO:0001587	stop_gained	2186	exon9			CCCAGAGAATTTG	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.2833G>T	17.37:g.65890193G>T	ENSP00000315454:p.Glu945*		59	0	0		82	0.28	23	NM_004459	21	0.14	3	Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	39	7.493260	0.98319	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.1014	19.5998	0.95557	0.0:0.0:1.0:0.0	.	.	.	.	X	819;945;945;743	.	ENSP00000307208:E819X	E	+	1	0	BPTF	63320655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.734000	0.98822	2.717000	0.92951	0.655000	0.94253	GAA			0.378	BPTF-201	KNOWN	basic	protein_coding	protein_coding				NM_182641, NM_004459		T	65890193	G	T	65890193	4	4	22	1	0	0	0	0	0	1	0	0	1497	943	33	3	2867	3	BPTF	17	65890193	Nonsense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	7586792	65890193	15305017	60	1444											
ARRDC5	645432	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	4891239	4891239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgatctcaccgtcctgcGtgctgctgctcacggacagc	6	9	11	15	3	2	1	2	1	1	0	4	2	3	2	2	1	5	4	2	1	0	0	rs2297506		TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr19:4891239G>T	ENST00000381781.2	-	3	847	c.848C>A	c.(847-849)aCg>aAg	p.T283K	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	283										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)		ACCGTCCTGCGTGCTGCTGCT	0.607																																					p.T283K													.	ARRDC5	19		0			c.C848A												115	127	123					19																	4891239		2139	4235	6374	SO:0001583	missense	645432	exon3			TCCTGCGTGCTGC		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.848C>A	19.37:g.4891239G>T	ENSP00000371200:p.Thr283Lys		56	0	0		42	0.1	4	NM_001080523	0		0		Missense_Mutation	SNP	ENST00000381781.2	37	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099038	0.37048	.	.	ENSG00000205784	ENST00000381781	T	0.17213	2.29	4.91	-9.45	0.00600	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	40.696800	0.00166	N	0.000004	T	0.08133	0.0203	N	0.19112	0.55	0.09310	N	1	B	0.24426	0.103	B	0.27076	0.076	T	0.20505	-1.0273	10	0.25106	T	0.35	1.7516	1.567	0.02606	0.2366:0.3687:0.1833:0.2114	.	283	A6NEK1	ARRD5_HUMAN	K	283	ENSP00000371200:T283K	ENSP00000371200:T283K	T	-	2	0	ARRDC5	4842239	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.714000	0.01881	-1.563000	0.01680	-0.133000	0.14855	ACG			0.607	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450443.1		XM_292803		T	4891239	G	T	4891239	3	4	22	1	0	0	0	0	1	0	0	0	986	1145	40	1	184	1	ARRDC5	19	4891239	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		4891239	54237744	61	1445											
ZNF823	55552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11833770	11833770	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttcccacacaacttacaTttataaggtccatctccatg	11	13	4	13	0	1	0	0	0	1	0	4	0	3	0	3	1	2	1	3	1	4	5			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr19:11833770T>C	ENST00000341191.6	-	4	732	c.579A>G	c.(577-579)aaA>aaG	p.K193K	ZNF823_ENST00000545749.1_Silent_p.K11K	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ACAACTTACATTTATAAGGTC	0.418										HNSCC(68;0.2)																											p.K193K													ZNF823_ENST00000341191,colon,carcinoma,-1,2	ZNF823_ENST00000341191	-1	2	0			c.A579G												90	96	94					19																	11833770		2199	4299	6498	SO:0001819	synonymous_variant	55552	exon4			CTTACATTTATAA	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.579A>G	19.37:g.11833770T>C			108	0	0		106	0.31	33	NM_001080493	6	0.67	4	A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	ENST00000341191.6	37	CCDS45981.1																																																																																					0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344516.2		NM_001080493		C	11833770	T	C	11833770	2	2	22	1	0	0	0	0	0	0	0	1	18202	1490	52	4		4	ZNF823	19	11833770	Silent	SNP	T	TCGA-2G-AAG7-01A-11D-A42Y-10	6942531	11833770	47295213	62	1446											
SFRS14	10147	hgsc.bcm.edu	37	chr19	19135472	19135472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcctgaatttcaggtttcGtaggaggaatcattttctcc	8	15	10	8	1	3	1	2	1	1	0	5	3	3	3	2	4	0	2	2	4	3	5			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr19:19135472G>T	ENST00000601879.1	-	3	1982	c.1685C>A	c.(1684-1686)aCg>aAg	p.T562K	SUGP2_ENST00000456085.2_Missense_Mutation_p.T331K|SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000600377.1_Missense_Mutation_p.T576K|SUGP2_ENST00000337018.6_Missense_Mutation_p.T562K|SUGP2_ENST00000452918.2_Missense_Mutation_p.T562K			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	562					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTCAGGTTTCGTAGGAGGAAT	0.478																																					p.T562K													SUGP2,NS,carcinoma,0,1	SUGP2	0	1	0			c.C1685A												96	92	93					19																	19135472		2203	4300	6503	SO:0001583	missense	10147	exon3			GGTTTCGTAGGAG	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1685C>A	19.37:g.19135472G>T	ENSP00000472286:p.Thr562Lys		74	0	0		46	0.04	2	NM_014884	55	0	0	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607626	0.28623	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.12039	2.93;2.93;2.93;2.72	4.97	-1.27	0.09347	.	0.837534	0.10478	N	0.669922	T	0.06325	0.0163	N	0.14661	0.345	0.09310	N	1	P;B;B	0.34724	0.465;0.029;0.307	B;B;B	0.26310	0.061;0.013;0.068	T	0.37686	-0.9695	10	0.25106	T	0.35	0.1306	9.6419	0.39844	0.3688:0.0:0.6312:0.0	.	331;562;562	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	K	562;562;562;331	ENSP00000337926:T562K;ENSP00000332373:T562K;ENSP00000389380:T562K;ENSP00000409603:T331K	ENSP00000332373:T562K	T	-	2	0	SUGP2	18996472	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.907000	0.04067	-0.374000	0.07967	-1.380000	0.01176	ACG			0.478	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464627.1		NM_001017392		T	19135472	G	T	19135472	3	4	22	1	0	0	0	0	1	0	0	0	14193	1145	40	1	1595	1	SFRS14	19	19135472	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	7301702	19135472	39993511	63	1447											
CEBPA	1050	broad.mit.edu;mdanderson.org	37	chr19	33792544	33792544	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcgcggaggtcggggtgCgcggcgcccagccccttgag	3	5	18	15	7	0	1	0	1	0	0	2	2	0	2	3	5	2	0	3	5	0	1			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr19:33792544C>A	ENST00000498907.2	-	1	926	c.777G>T	c.(775-777)gcG>gcT	p.A259A	CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	259					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	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 transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H219fs*53(1)|p.H200_K352>Q(1)|p.P247fs*54(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GGTCGGGGTGCGCGGCGCCCA	0.786			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																												p.A259A				Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	.	CEBPA	986		4	Deletion - Frameshift(2)|Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	c.G777T												4	5	5					19																	33792544		1672	3674	5346	SO:0001819	synonymous_variant	1050	exon1	Familial Cancer Database	Familial AML	GGGGTGCGCGGCG	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.777G>T	19.37:g.33792544C>A			15	0	0		11	0.73	8	NM_004364	1	0	0	A7LNP2|P78319|Q05CA4	Silent	SNP	ENST00000498907.2	37	CCDS54243.1																																																																																					0.786	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365012.1		NM_004364		A	33792544	C	A	33792544	2	1	22	1	0	0	0	0	0	0	0	1	3201	755	27	1		1	CEBPA	19	33792544	Silent	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	14657072	33792544	25336439	64	1448											
ZNF30	90075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	35434283	35434283	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcaaagcctgttcaacAtgaaagaatacatagtagtg	17	9	8	7	0	2	3	2	1	0	2	2	3	2	3	1	0	3	2	1	0	7	4			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr19:35434283A>G	ENST00000601142.1	+	5	650	c.413A>G	c.(412-414)cAt>cGt	p.H138R	ZNF30_ENST00000303586.7_Missense_Mutation_p.H139R|ZNF30_ENST00000595818.1_3'UTR|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.H139R|ZNF30_ENST00000426813.2_Missense_Mutation_p.H57R			P17039	ZNF30_HUMAN	zinc finger protein 30	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CCTGTTCAACATGAAAGAATA	0.373																																					p.H139R													.	.			0			c.A416G												100	97	98					19																	35434283		1904	4134	6038	SO:0001583	missense	90075	exon5			TTCAACATGAAAG	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.413A>G	19.37:g.35434283A>G	ENSP00000469954:p.His138Arg		157	0	0		136	0.28	38	NM_001099438	2	0.5	1	A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580002	0.65992	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813	T;T	0.52526	0.66;0.66	1.91	1.91	0.25777	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71247	0.3317	M	0.93375	3.41	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.965;0.99	T	0.57642	-0.7776	9	0.72032	D	0.01	.	5.7491	0.18136	1.0:0.0:0.0:0.0	.	139;138	P17039-2;P17039	.;ZNF30_HUMAN	R	139;138;57	ENSP00000403441:H139R;ENSP00000416457:H57R	ENSP00000303889:H138R	H	+	2	0	ZNF30	40126123	0.387000	0.25188	0.751000	0.31187	0.836000	0.47400	2.624000	0.46444	0.873000	0.35799	0.416000	0.27883	CAT			0.373	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464432.1		NM_194325		G	35434283	A	G	35434283	3	3	22	1	0	0	0	0	1	0	0	0	17853	217	8	4	430	4	ZNF30	19	35434283	Missense_Mutation	SNP	A	TCGA-2G-AAG7-01A-11D-A42Y-10	1641739	35434283	23694700	65	1449											
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	39057585	39057585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctcccgccagagcCagagcccgagccggaaccag	10	1	15	15	3	0	2	0	0	0	2	1	6	1	5	6	3	5	1	6	3	1	0			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr19:39057585C>T	ENST00000359596.3	+	92	13472	c.13472C>T	c.(13471-13473)cCa>cTa	p.P4491L	RYR1_ENST00000360985.3_Missense_Mutation_p.P4486L|RYR1_ENST00000355481.4_Missense_Mutation_p.P4486L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4491	Pro-rich.				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)	CCGCCAGAGCCAGAGCCCGAG	0.647																																					p.P4491L													RYR1,caecum,carcinoma,+1,1	RYR1	1	1	0			c.C13472T												40	39	40					19																	39057585		2202	4298	6500	SO:0001583	missense	6261	exon92			CAGAGCCAGAGCC	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.13472C>T	19.37:g.39057585C>T	ENSP00000352608:p.Pro4491Leu		35	0	0		42	0.29	12	NM_000540	38	0.16	6	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	1.491	-0.554667	0.03996	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93076	-3.16;-3.16;-3.16	3.93	1.71	0.24356	Ryanodine Receptor TM 4-6 (1);	0.606936	0.13185	U	0.407200	D	0.84009	0.5378	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.71417	-0.4599	10	0.37606	T	0.19	.	2.3396	0.04256	0.3006:0.4376:0.1609:0.101	.	4486;4491	P21817-2;P21817	.;RYR1_HUMAN	L	4491;4486;4486	ENSP00000352608:P4491L;ENSP00000347667:P4486L;ENSP00000354254:P4486L	ENSP00000347667:P4486L	P	+	2	0	RYR1	43749425	0.457000	0.25752	0.095000	0.20976	0.009000	0.06853	2.127000	0.42035	0.591000	0.29711	0.313000	0.20887	CCA			0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462137.1				T	39057585	C	T	39057585	3	4	22	1	0	0	0	0	1	0	0	0	13791	594	21	3	13838	3	RYR1	19	39057585	Missense_Mutation	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	3623302	39057585	20071398	66	1450											
EGLN2	112398	mdanderson.org	37	chr19	41306600	41306600	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggagagttacctgccCtgtcccctgctcccctccta	5	10	10	16	0	0	1	0	0	0	1	3	3	3	2	7	2	3	2	7	2	2	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr19:41306600C>A	ENST00000593726.1	+	1	1151	c.123C>A	c.(121-123)ccC>ccA	p.P41P	CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.P41P|EGLN2_ENST00000406058.2_Silent_p.P41P			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	41					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|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)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GTTACCTGCCCTGTCCCCTGC	0.652																																					p.P41P													.	.			0			c.C123A												55	47	50					19																	41306600		2203	4300	6503	SO:0001819	synonymous_variant	112398	exon2			CCTGCCCTGTCCC	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.123C>A	19.37:g.41306600C>A			45	0	0		37	0.08	3	NM_080732	79	0	0	A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	ENST00000593726.1	37	CCDS12567.1																																																																																					0.652	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463218.1				A	41306600	C	A	41306600	2	1	22	1	0	0	0	0	0	0	0	1	4974	668	24	3		3	EGLN2	19	41306600	Silent	SNP	C	TCGA-2G-AAG7-01A-11D-A42Y-10	2249015	41306600	17822383	67	1451											
FLT3LG	2323	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49979435	49979435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagattacccagtcaccGtggcctccaacctgcaggac	10	8	8	15	1	2	1	2	0	0	1	3	2	3	2	5	2	3	1	5	2	3	2	rs367551792		TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr19:49979435G>C	ENST00000594009.1	+	3	257	c.178G>C	c.(178-180)Gtg>Ctg	p.V60L	FLT3LG_ENST00000344019.3_Missense_Mutation_p.V60L|FLT3LG_ENST00000204637.2_5'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_Missense_Mutation_p.V60L|FLT3LG_ENST00000597551.1_Missense_Mutation_p.V60L|FLT3LG_ENST00000595510.1_5'UTR|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000596435.1_Missense_Mutation_p.V60L	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	60					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)		CCCAGTCACCGTGGCCTCCAA	0.567											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V60L													.	.			0			c.G178C												165	165	165					19																	49979435		2203	4300	6503	SO:0001583	missense	2323	exon3			GTCACCGTGGCCT	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.178G>C	19.37:g.49979435G>C	ENSP00000469613:p.Val60Leu		45	0	0	966	49	0.27	13	NM_001204503	4	0	0	A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	ENST00000594009.1	37	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	G	8.591	0.884629	0.17467	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.04	2.95	0.34219	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.227351	0.35436	U	0.003217	T	0.33235	0.0856	L	0.34521	1.04	0.09310	N	1	B	0.28783	0.222	B	0.34093	0.175	T	0.32693	-0.9897	9	0.72032	D	0.01	-12.4909	9.7282	0.40344	0.0:0.2126:0.7873:0.0	.	60	P49771	FLT3L_HUMAN	L	60	.	ENSP00000204637:V60L	V	+	1	0	FLT3LG	54671247	0.833000	0.29383	0.201000	0.23476	0.130000	0.20726	1.303000	0.33470	0.761000	0.33130	0.542000	0.68232	GTG			0.567	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465305.1				C	49979435	G	C	49979435	3	2	22	1	0	0	0	0	1	0	0	0	5956	1145	40	5	188	5	FLT3LG	19	49979435	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10	8672835	49979435	9149548	68	1452											
STAU1	6780	mdanderson.org	37	chr20	47734337	47734337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccctggactctggaaaGatagtccagttgctcagagg	11	9	12	9	0	2	2	1	0	1	2	4	5	4	4	2	3	1	2	2	3	3	2			TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr20:47734337G>T	ENST00000371856.2	-	11	1896	c.1486C>A	c.(1486-1488)Ctt>Att	p.L496I	STAU1_ENST00000340954.7_Missense_Mutation_p.L415I|STAU1_ENST00000371802.1_Missense_Mutation_p.L421I|STAU1_ENST00000371828.3_Missense_Mutation_p.L421I|STAU1_ENST00000360426.4_Missense_Mutation_p.L415I|STAU1_ENST00000347458.5_Missense_Mutation_p.L415I|STAU1_ENST00000371792.1_Missense_Mutation_p.L413I	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	496					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACTCTGGAAAGATAGTCCAGT	0.517																																					p.L496I													.	.			0			c.C1486A												67	66	67					20																	47734337		2203	4300	6503	SO:0001583	missense	6780	exon11			TGGAAAGATAGTC		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1486C>A	20.37:g.47734337G>T	ENSP00000360922:p.Leu496Ile		31	0	0		20	0.1	2	NM_017453	143	0	0	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134733	0.94517	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90265	0.4303	10	0.87932	D	0	-14.2071	19.6778	0.95943	0.0:0.0:1.0:0.0	.	496;421	O95793;Q5JW29	STAU1_HUMAN;.	I	421;415;496;415;415;415;421;413	ENSP00000360893:L421I;ENSP00000345425:L415I;ENSP00000360922:L496I;ENSP00000353604:L415I;ENSP00000323443:L415I;ENSP00000360867:L421I;ENSP00000360857:L413I	ENSP00000345425:L415I	L	-	1	0	STAU1	47167744	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.993000	0.88291	2.645000	0.89757	0.650000	0.86243	CTT			0.517	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079633.1		NM_017453		T	47734337	G	T	47734337	3	4	22	1	0	0	0	0	1	0	0	0	15295	942	33	3	263	3	STAU1	20	47734337	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		47734337	15291183	69	1453											
TMEM211	255349	mdanderson.org	37	chr22	25334150	25334150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccctggcattggaacactGcttctccttgggcacagccc	7	9	9	16	0	1	0	0	0	1	0	2	1	1	1	4	3	3	3	4	3	1	3	rs553917131		TCGA-2G-AAG7-01A-11D-A42Y-10	TCGA-2G-AAG7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35345420-69f0-4148-9040-4d0e2079bca1	e44e99f1-5a48-41f2-adf0-0cc3bd073cf8	g.chr22:25334150G>T	ENST00000423535.1	-	2	305	c.306C>A	c.(304-306)agC>agA	p.S102R	TMEM211_ENST00000382744.1_Missense_Mutation_p.S31R|TMEM211_ENST00000407886.1_Missense_Mutation_p.S31R			Q6ICI0	TM211_HUMAN	transmembrane protein 211	102						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGGAACACTGCTTCTCCTTG	0.522																																					p.S31R													.	.			0			c.C93A												108	85	93					22																	25334150		2203	4300	6503	SO:0001583	missense	255349	exon2			AACACTGCTTCTC		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.306C>A	22.37:g.25334150G>T	ENSP00000387813:p.Ser102Arg		52	0	0		36	0.08	3	NM_001001663	0		0		Missense_Mutation	SNP	ENST00000423535.1	37		.	.	.	.	.	.	.	.	.	.	G	2.167	-0.390785	0.04932	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	T;T;T	0.78246	-1.16;-0.6;-1.16	4.17	1.92	0.25849	.	0.687482	0.13244	N	0.402639	T	0.54159	0.1841	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.12156	0.007	T	0.41928	-0.9481	10	0.33940	T	0.23	-30.1335	5.9403	0.19189	0.1093:0.3019:0.5887:0.0	.	102	Q6ICI0	TM211_HUMAN	R	31;102;31	ENSP00000385494:S31R;ENSP00000387813:S102R;ENSP00000372192:S31R	ENSP00000372192:S31R	S	-	3	2	TMEM211	23664150	0.001000	0.12720	0.005000	0.12908	0.038000	0.13279	0.354000	0.20146	1.113000	0.41760	0.555000	0.69702	AGC			0.522	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001001663		T	25334150	G	T	25334150	3	4	22	1	0	0	0	0	1	0	0	0	16158	1310	46	2	304	2	TMEM211	22	25334150	Missense_Mutation	SNP	G	TCGA-2G-AAG7-01A-11D-A42Y-10		25334150	25970416	70	1454											
GMEB1	10691	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	29016676	29016676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtagaaactcacacgatAcacaaaattgaagaagggat	19	6	9	7	1	1	3	1	1	0	2	1	5	1	4	0	1	2	2	0	1	7	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:29016676A>G	ENST00000294409.2	+	3	309	c.219A>G	c.(217-219)atA>atG	p.I73M	SCARNA24_ENST00000516968.1_RNA|GMEB1_ENST00000373816.1_Missense_Mutation_p.I63M|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.I63M	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	73					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACACGATACACAAAATTG	0.343																																					p.I73M													.	GMEB1	28		0			c.A219G												69	61	64					1																	29016676		2203	4300	6503	SO:0001583	missense	10691	exon3			CACGATACACAAA	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.219A>G	1.37:g.29016676A>G	ENSP00000294409:p.Ile73Met		147	0	0		127	0.09	12	NM_006582	21	0.24	5	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906599	0.52333	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.56444	0.49;0.49;0.46	5.64	1.66	0.24008	.	0.221208	0.46442	D	0.000293	T	0.27063	0.0663	N	0.08118	0	0.21220	N	0.999753	P;P	0.46512	0.879;0.879	B;B	0.40410	0.328;0.328	T	0.14035	-1.0487	10	0.56958	D	0.05	.	5.8458	0.18665	0.5442:0.2201:0.0:0.2357	.	73;63	Q9Y692;B1AT47	GMEB1_HUMAN;.	M	63;39;63;73	ENSP00000362922:I63M;ENSP00000355186:I63M;ENSP00000294409:I73M	ENSP00000294409:I73M	I	+	3	3	GMEB1	28889263	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	0.190000	0.17057	0.939000	0.37446	0.533000	0.62120	ATA			0.343	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000010333.1		NM_006582		G	29016676	A	G	29016676	3	3	23	1	0	0	0	0	1	0	0	0	6501	381	14	4	225	4	GMEB1	1	29016676	Missense_Mutation	SNP	A	TCGA-2G-AAG8-01A-31D-A42Y-10		29016676	220233945	1	1455											
COL16A1	1307	mdanderson.org	37	chr1	32156172	32156172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgggatccccgagctGccctgtggtcagaagaaagg	8	9	13	11	1	1	2	1	0	0	2	3	4	3	3	4	3	2	1	4	3	2	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:32156172G>A	ENST00000373672.3	-	21	1956	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	COL16A1_ENST00000373668.3_Silent_p.G480G|COL16A1_ENST00000271069.6_Silent_p.G480G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	480	Triple-helical region 9 (COL9) with 3 imperfections.				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)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCCGAGCTGCCCTGTGGTC	0.622																																					p.G480G	Colon(143;498 1786 21362 25193 36625)												.	.			0			c.C1440T												41	45	44					1																	32156172		1895	4115	6010	SO:0001819	synonymous_variant	1307	exon21			CGAGCTGCCCTGT	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1440C>T	1.37:g.32156172G>A			75	0	0		50	0.06	3	NM_001856	28	0	0	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																					0.622	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011057.2		NM_001856		A	32156172	G	A	32156172	2	1	23	1	0	0	0	0	0	0	0	1	3675	1306	46	2		2	COL16A1	1	32156172	Silent	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	3139496	32156172	217094449	2	1456											
SLC9A11	284525	mdanderson.org	37	chr1	173556912	173556912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctttattgaattttataaCgacatatccaattatgatgc	14	17	4	6	1	1	2	0	2	1	0	2	3	2	2	1	0	2	0	1	0	7	8	rs147559775		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:173556912C>T	ENST00000367714.3	-	5	837	c.415G>A	c.(415-417)Gtt>Att	p.V139I	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.V37I	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	139					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AATTTTATAACGACATATCCA	0.333													C|||	1	0.000199681	0	0.0014	5008	,	,		18418	0		0	False		,,,				2504	0				p.V139I													.	.			0			c.G415A							C	ILE/VAL	0,4406		0,0,2203	104	105	105		415	3.7	0.5	1	dbSNP_134	105	3,8593	3.0+/-9.4	0,3,4295	yes	missense	SLC9A11	NM_178527.3	29	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	139/1125	173556912	3,12999	2203	4298	6501	SO:0001583	missense	284525	exon5			TTATAACGACATA	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.415G>A	1.37:g.173556912C>T	ENSP00000356687:p.Val139Ile		78	0	0		50	0.06	3	NM_178527	0		0	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.38	1.620399	0.28801	0.0	3.49E-4	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.15487	2.42;2.42	5.59	3.72	0.42706	Cation/H+ exchanger (1);	0.369555	0.23196	N	0.050855	T	0.04182	0.0116	L	0.44542	1.39	0.09310	N	1	P	0.40731	0.728	B	0.30495	0.116	T	0.26395	-1.0104	10	0.34782	T	0.22	-19.8344	7.7426	0.28849	0.0:0.8149:0.0:0.1851	.	139	Q5TAH2	S9A11_HUMAN	I	139;37	ENSP00000356687:V139I;ENSP00000445437:V37I	ENSP00000356687:V139I	V	-	1	0	SLC9A11	171823535	0.052000	0.20516	0.456000	0.27044	0.027000	0.11550	1.284000	0.33249	1.372000	0.46190	0.591000	0.81541	GTT	0		0.333	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084205.1		NM_178527		T	173556912	C	T	173556912	3	4	23	1	0	0	0	0	1	0	0	0	14734	536	19	1	3055	1	SLC9A11	1	173556912	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	141400740	173556912	75693709	3	1457											
SLC35F3	148641	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	234040876	234040876	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggcaagagcattgccgTgtgagtagcgccccgggcgt	7	6	17	11	4	0	2	0	1	0	1	0	2	0	2	3	3	3	3	3	3	2	2			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:234040876T>C	ENST00000366618.3	+	1	198	c.53T>C	c.(52-54)gTt>gCt	p.V18A		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGCATTGCCGTGTGAGTAGCG	0.692																																					p.V18A													.	.			0			c.T53C												18	19	18					1																	234040876		2149	4210	6359	SO:0001630	splice_region_variant	148641	exon1			TTGCCGTGTGAGT		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.53+1T>C	1.37:g.234040876T>C			40	0	0		35	0.23	8	NM_173508	0		0	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366618.3	37	CCDS1600.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.305836	0.23736	.	.	ENSG00000183780	ENST00000366618	T	0.40756	1.02	4.3	3.17	0.36434	.	0.935946	0.08789	U	0.893486	T	0.35189	0.0923	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.15809	-1.0424	9	0.72032	D	0.01	0.2056	7.3485	0.26676	0.0:0.104:0.0:0.896	.	18	Q8IY50-2	.	A	18	ENSP00000355577:V18A	ENSP00000355577:V18A	V	+	2	0	SLC35F3	232107499	0.998000	0.40836	0.699000	0.30290	0.104000	0.19210	2.463000	0.45058	0.690000	0.31570	0.363000	0.22086	GTT			0.692	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092579.2		NM_173508	Missense_Mutation	C	234040876	T	C	234040876	5	2	23	1	0	0	0	0	0	0	1	0	14613	1710	59	4	55	4	SLC35F3	1	234040876	Splice_Site	SNP	T	TCGA-2G-AAG8-01A-31D-A42Y-10	60483964	234040876	15209745	4	1458											
RGPD4	285190	mdanderson.org	37	chr2	108487774	108487774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgatgcgaagagaacaagTactaaaagtgtgtgctaatc	15	9	11	6	1	0	2	0	1	0	1	1	4	0	2	0	0	4	3	0	0	7	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:108487774T>A	ENST00000408999.3	+	20	3391	c.3314T>A	c.(3313-3315)gTa>gAa	p.V1105E	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1105E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1105	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGAGAACAAGTACTAAAAGTG	0.443																																					p.V1105E													.	.			0			c.T3314A												8	7	7					2																	108487774		686	1556	2242	SO:0001583	missense	285190	exon20			AACAAGTACTAAA	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.3314T>A	2.37:g.108487774T>A	ENSP00000386810:p.Val1105Glu		37	0	0		23	0.09	2	NM_182588	3	0	0	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.39	1.623918	0.28889	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.53206	0.63;0.63	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.73666	0.3616	M	0.92317	3.295	0.30779	N	0.742223	P	0.36660	0.564	P	0.61397	0.888	T	0.73232	-0.4048	9	0.87932	D	0	-24.8075	9.2036	0.37275	0.0:0.0:0.0:1.0	.	1105	Q7Z3J3	RGPD4_HUMAN	E	1105;1105;863	ENSP00000347081:V1105E;ENSP00000386810:V1105E	ENSP00000347081:V1105E	V	+	2	0	RGPD4	107854206	1.000000	0.71417	0.978000	0.43139	0.204000	0.24138	5.993000	0.70616	1.072000	0.40860	0.136000	0.15936	GTA			0.443	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330096.2		XM_496581		A	108487774	T	A	108487774	3	1	23	1	0	0	0	0	1	0	0	0	13311	1638	57	5	3392	5	RGPD4	2	108487774	Missense_Mutation	SNP	T	TCGA-2G-AAG8-01A-31D-A42Y-10		108487774	134711599	5	1459											
CCDC115	84317	mdanderson.org	37	chr2	131098600	131098600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtcttagtggggcccttgCgcctccgcagacctgaggaa	6	8	15	12	2	1	2	0	1	1	1	2	3	2	3	4	4	1	1	4	4	2	2			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:131098600C>T	ENST00000259229.2	-	4	534	c.311G>A	c.(310-312)cGc>cAc	p.R104H	IMP4_ENST00000409935.1_5'Flank|CCDC115_ENST00000437688.2_Missense_Mutation_p.R99H|IMP4_ENST00000259239.3_5'Flank|CCDC115_ENST00000409127.1_Missense_Mutation_p.R99H	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	104						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					GGGGCCCTTGCGCCTCCGCAG	0.547																																					p.R104H													CCDC115,NS,carcinoma,0,1	CCDC115	0	1	0			c.G311A												22	25	24					2																	131098600		2203	4300	6503	SO:0001583	missense	84317	exon4			CCCTTGCGCCTCC	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.311G>A	2.37:g.131098600C>T	ENSP00000259229:p.Arg104His		35	0	0		24	0.13	3	NM_032357	163	0.01	1	B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794047	0.31777	.	.	ENSG00000136710	ENST00000259229;ENST00000409127;ENST00000437688	D;D;D	0.95756	-3.8;-3.8;-3.8	3.65	0.808	0.18719	.	0.174567	0.36268	N	0.002693	D	0.96568	0.8880	M	0.82630	2.6	0.28194	N	0.927649	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.973;0.973	D	0.90781	0.4679	10	0.42905	T	0.14	-0.8887	5.3157	0.15854	0.0:0.626:0.1704:0.2036	.	99;104;104;99	B4DJ47;F8WCZ3;Q96NT0;B8ZZ99	.;.;CC115_HUMAN;.	H	104;99;99	ENSP00000259229:R104H;ENSP00000387301:R99H;ENSP00000399756:R99H	ENSP00000259229:R104H	R	-	2	0	CCDC115	130815070	1.000000	0.71417	0.991000	0.47740	0.026000	0.11368	2.544000	0.45761	0.161000	0.19458	-0.882000	0.02950	CGC			0.547	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254524.2		NM_032357		T	131098600	C	T	131098600	3	4	23	1	0	0	0	0	1	0	0	0	2754	768	27	1	239	1	CCDC115	2	131098600	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	22610826	131098600	112100773	6	1460											
IFIH1	64135	broad.mit.edu	37	chr2	163174668	163174668	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgttcccggaggtggcGactgtcctctgaatctgctc	5	12	12	12	2	2	1	0	1	2	0	5	3	4	2	2	3	2	3	2	3	1	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:163174668G>T	ENST00000263642.2	-	1	545	c.150C>A	c.(148-150)gtC>gtA	p.V50V	IFIH1_ENST00000421365.2_Silent_p.V50V|GCA_ENST00000429691.2_5'Flank	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	50	CARD 1.				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 interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CGGAGGTGGCGACTGTCCTCT	0.582																																					p.V50V													.	IFIH1	102		0			c.C150A												73	68	70					2																	163174668		2203	4300	6503	SO:0001819	synonymous_variant	64135	exon1			GGTGGCGACTGTC	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.150C>A	2.37:g.163174668G>T			86	0	0		95	0.03	3	NM_022168	4	0	0	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	CCDS2217.1																																																																																					0.582	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255078.2		NM_022168		T	163174668	G	T	163174668	2	4	23	1	0	0	0	0	0	0	0	1	7535	1045	37	1		1	IFIH1	2	163174668	Silent	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	32076068	163174668	80024705	7	1461											
KCNH7	90134	mdanderson.org	37	chr2	163253438	163253438	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagatgaaccatttctcCaaatatatcattttttccta	15	16	2	8	0	2	2	1	1	1	1	4	2	3	2	3	0	1	0	3	0	7	8			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:163253438C>A	ENST00000332142.5	-	11	2524	c.2425G>T	c.(2425-2427)Gga>Tga	p.G809*		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	809					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)			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)	ACCATTTCTCCAAATATATCA	0.373																																					p.G809X	GBM(196;1492 2208 17507 24132 45496)												KCNH7,neck,malignant_melanoma,0,1	KCNH7	0	1	0			c.G2425T												55	57	56					2																	163253438		2202	4298	6500	SO:0001587	stop_gained	90134	exon11			TTTCTCCAAATAT	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.2425G>T	2.37:g.163253438C>A	ENSP00000331727:p.Gly809*		53	0	0		50	0.06	3	NM_033272	0		0	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	41	8.555287	0.98861	.	.	ENSG00000184611	ENST00000332142	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7712	0.96366	0.0:1.0:0.0:0.0	.	.	.	.	X	809	.	ENSP00000331727:G809X	G	-	1	0	KCNH7	162961684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.677000	0.91161	0.585000	0.79938	GGA			0.373	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255093.1		NM_033272		A	163253438	C	A	163253438	4	1	23	1	0	0	0	0	0	1	0	0	8052	603	21	3	1189	3	KCNH7	2	163253438	Nonsense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	78770	163253438	79945935	8	1462											
ESPNL	339768	mdanderson.org	37	chr2	239039967	239039967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggagtgcgacctgcCggcggaggagcggaagctgc	6	5	19	11	4	0	0	0	0	0	0	0	5	0	4	2	5	6	3	2	5	1	0			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:239039967C>T	ENST00000343063.3	+	9	2875	c.2612C>T	c.(2611-2613)cCg>cTg	p.P871L	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.P503L|ESPNL_ENST00000409169.1_Missense_Mutation_p.P827L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	871										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGCGACCTGCCGGCGGAGGAG	0.667																																					p.P871L													.	.			0			c.C2612T												12	11	11					2																	239039967		2186	4282	6468	SO:0001583	missense	339768	exon9			ACCTGCCGGCGGA	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2612C>T	2.37:g.239039967C>T	ENSP00000339115:p.Pro871Leu		72	0	0		39	0.08	3	NM_194312	0		0	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906191	0.52333	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.66099	-0.19;0.91;0.53	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000004	T	0.76343	0.3974	M	0.63843	1.955	0.50467	D	0.999871	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.926	T	0.79729	-0.1681	10	0.87932	D	0	-31.8201	16.4759	0.84132	0.0:1.0:0.0:0.0	.	827;871	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	L	871;827;503	ENSP00000339115:P871L;ENSP00000386577:P827L;ENSP00000386579:P503L	ENSP00000339115:P871L	P	+	2	0	ESPNL	238704706	0.001000	0.12720	0.909000	0.35828	0.144000	0.21451	1.530000	0.36007	2.176000	0.68965	0.460000	0.39030	CCG			0.667	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257164.2		NM_194312		T	239039967	C	T	239039967	3	4	23	1	0	0	0	0	1	0	0	0	5262	652	23	1	2646	1	ESPNL	2	239039967	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	75786529	239039967	4159406	9	1463											
ATG4B	23192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	242610198	242610198	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgccagcaagtcaaaaagGtttgtagccgccccacaccc	11	6	10	14	1	1	0	1	0	0	0	1	0	1	0	5	2	3	3	5	2	4	2			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:242610198G>T	ENST00000404914.3	+	11	1117		c.e11+1		ATG4B_ENST00000474739.2_Splice_Site|ATG4B_ENST00000405546.3_Splice_Site|ATG4B_ENST00000402096.1_Splice_Site|ATG4B_ENST00000396411.3_Splice_Site	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase						autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		AGTCAAAAAGGTTTGTAGCCG	0.567																																					.	Melanoma(78;458 1323 6342 12171 39523)												.	.			0			c.1014+1G>T												57	57	57					2																	242610198		1949	4120	6069	SO:0001630	splice_region_variant	23192	exon11			AAAAAGGTTTGTA	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.1014+1G>T	2.37:g.242610198G>T			61	0	0		72	0.19	14	NM_013325	7	0.43	3	B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Splice_Site	SNP	ENST00000404914.3	37	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751599	0.69533	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000474739;ENST00000396411;ENST00000428861	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4538	0.94878	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATG4B	242258871	1.000000	0.71417	0.969000	0.41365	0.865000	0.49528	6.802000	0.75175	2.671000	0.90904	0.655000	0.94253	.			0.567	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322967.3		NM_013325	Intron	T	242610198	G	T	242610198	5	4	23	1	0	0	0	0	0	0	1	0	1097	1275	44	3	1057	3	ATG4B	2	242610198	Splice_Site	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	3570231	242610198	589175	10	1464											
CAPN7	23473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	15282061	15282061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaatgatgtaaaaaacTggactccagagttgcaaaag	18	8	10	5	0	0	3	0	2	0	1	1	4	1	4	1	1	2	3	1	1	7	2			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr3:15282061T>C	ENST00000253693.2	+	13	1742	c.1489T>C	c.(1489-1491)Tgg>Cgg	p.W497R		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	497	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TGTAAAAAACTGGACTCCAGA	0.323																																					p.W497R													.	.			0			c.T1489C												57	62	61					3																	15282061		2202	4300	6502	SO:0001583	missense	23473	exon13			AAAAACTGGACTC	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1489T>C	3.37:g.15282061T>C	ENSP00000253693:p.Trp497Arg		81	0	0		69	0.17	12	NM_014296	13	0.15	2		Missense_Mutation	SNP	ENST00000253693.2	37	CCDS2624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.5|25.5	4.642952|4.642952	0.87859|0.87859	.|.	.|.	ENSG00000131375|ENSG00000131375	ENST00000415565|ENST00000253693	.|D	.|0.93488	.|-3.23	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Peptidase C2, calpain, catalytic domain (3);	.|0.061164	.|0.64402	.|D	.|0.000001	D|D	0.97688|0.97688	0.9242|0.9242	H|H	0.95294|0.95294	3.65|3.65	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.81914	.|0.995	D|D	0.98519|0.98519	1.0622|1.0622	5|10	.|0.56958	.|D	.|0.05	-7.067|-7.067	15.7174|15.7174	0.77677|0.77677	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|497	.|Q9Y6W3	.|CAN7_HUMAN	P|R	234|497	.|ENSP00000253693:W497R	.|ENSP00000253693:W497R	L|W	+|+	2|1	0|0	CAPN7|CAPN7	15257065|15257065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.034000|8.034000	0.88864|0.88864	2.178000|2.178000	0.69098|0.69098	0.533000|0.533000	0.62120|0.62120	CTG|TGG			0.323	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252105.2		NM_014296		C	15282061	T	C	15282061	3	2	23	1	0	0	0	0	1	0	0	0	2633	1580	55	4	1539	4	CAPN7	3	15282061	Missense_Mutation	SNP	T	TCGA-2G-AAG8-01A-31D-A42Y-10		15282061	182740369	11	1465											
DHX30	22907	broad.mit.edu	37	chr3	47890473	47890473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtgcgggctgtcgccGgctgggaggaggtgctgcgt	2	10	19	10	4	0	0	0	0	0	0	1	2	0	2	2	5	3	3	2	5	0	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr3:47890473G>T	ENST00000445061.1	+	18	3240	c.2833G>T	c.(2833-2835)Ggc>Tgc	p.G945C	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Missense_Mutation_p.G906C|DHX30_ENST00000348968.4_Missense_Mutation_p.G917C|DHX30_ENST00000457607.1_Missense_Mutation_p.G973C	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	945						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)		GGCTGTCGCCGGCTGGGAGGA	0.637																																					p.G945C													.	DHX30	101		0			c.G2833T												51	53	52					3																	47890473		2203	4300	6503	SO:0001583	missense	22907	exon18			GTCGCCGGCTGGG	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.2833G>T	3.37:g.47890473G>T	ENSP00000405620:p.Gly945Cys		62	0	0		60	0.05	3	NM_138615	202	0	0	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015457	0.75161	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02682	4.2;4.2;4.2;4.2	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.15955	0.0384	M	0.77103	2.36	0.58432	D	0.999998	D;P	0.89917	1.0;0.825	D;P	0.72075	0.976;0.467	T	0.00262	-1.1867	10	0.59425	D	0.04	.	17.497	0.87720	0.0:0.0:1.0:0.0	.	945;906	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	C	906;945;917;973	ENSP00000392601:G906C;ENSP00000405620:G945C;ENSP00000343442:G917C;ENSP00000394682:G973C	ENSP00000343442:G917C	G	+	1	0	DHX30	47865477	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	7.684000	0.84104	2.362000	0.80069	0.655000	0.94253	GGC			0.637	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257495.2		NM_138615		T	47890473	G	T	47890473	3	4	23	1	0	0	0	0	1	0	0	0	4509	1116	39	1	2906	1	DHX30	3	47890473	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	32608412	47890473	150131957	12	1466											
MST1R	4486	mdanderson.org	37	chr3	49940449	49940449	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccagtgaggatgccacGtagaaataggaggcctggcc	10	6	15	10	2	0	2	0	1	0	1	1	4	1	4	4	4	1	1	4	4	3	2	rs200307089		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr3:49940449G>T	ENST00000296474.3	-	1	621	c.594C>A	c.(592-594)taC>taA	p.Y198*	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Nonsense_Mutation_p.Y198*|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	198	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		AGGATGCCACGTAGAAATAGG	0.632																																					p.Y198X													.	.			0			c.C594A												26	28	27					3																	49940449		2203	4300	6503	SO:0001587	stop_gained	4486	exon1			TGCCACGTAGAAA	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.594C>A	3.37:g.49940449G>T	ENSP00000296474:p.Tyr198*		33	0	0		14	0.14	2	NM_001244937	1	0	0	B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017475	0.75161	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	.	.	.	4.92	-3.19	0.05171	.	0.053755	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-17.5002	11.4951	0.50404	0.6398:0.0:0.3602:0.0	.	.	.	.	X	198	.	ENSP00000296474:Y198X	Y	-	3	2	MST1R	49915453	0.814000	0.29104	0.959000	0.39883	0.987000	0.75469	-0.017000	0.12590	-0.766000	0.04639	-0.258000	0.10820	TAC			0.632	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000345403.1				T	49940449	G	T	49940449	4	4	23	1	0	0	0	0	0	1	0	0	9907	1140	40	1	3688	1	MST1R	3	49940449	Nonsense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	2049976	49940449	148081981	13	1467											
RASA2	5922	mdanderson.org	37	chr3	141205997	141205997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtgcgactgcagagccCgaggccggggaccaggacag	9	2	18	12	4	0	1	0	0	0	1	0	6	0	3	3	4	3	1	3	4	0	0			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr3:141205997C>T	ENST00000452898.1	+	1	107	c.72C>T	c.(70-72)ccC>ccT	p.P24P	RASA2_ENST00000286364.3_Silent_p.P24P	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	24	Ala-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CTGCAGAGCCCGAGGCCGGGG	0.751																																					p.P24P													.	.			0			c.C72T												9	10	10					3																	141205997		2164	4231	6395	SO:0001819	synonymous_variant	5922	exon1			AGAGCCCGAGGCC	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.72C>T	3.37:g.141205997C>T			69	0	0		50	0.06	3	NM_006506	0		0	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37																																																																																						0.751	RASA2-201	KNOWN	basic	protein_coding	protein_coding				NM_006506		T	141205997	C	T	141205997	2	4	23	1	0	0	0	0	0	0	0	1	13084	639	23	1		1	RASA2	3	141205997	Silent	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	91265548	141205997	56816433	14	1468											
DDX60	55601	broad.mit.edu	37	chr4	169176947	169176947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttatcagctttgggaggccTttttgtctcctgctttttct	3	21	8	9	0	3	0	1	0	2	0	4	1	3	1	2	2	2	2	2	2	1	7			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr4:169176947T>C	ENST00000393743.3	-	26	3763	c.3472A>G	c.(3472-3474)Agg>Ggg	p.R1158G	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1158					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTGGGAGGCCTTTTTGTCTCC	0.378																																					p.R1158G													.	DDX60	304		0			c.A3472G												114	110	112					4																	169176947		2203	4300	6503	SO:0001583	missense	55601	exon26			GAGGCCTTTTTGT	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3472A>G	4.37:g.169176947T>C	ENSP00000377344:p.Arg1158Gly		92	0	0		87	0.05	4	NM_017631	13	0	0	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	t	1.982	-0.433915	0.04669	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	T	0.42131	0.98	4.9	1.04	0.20106	.	0.397278	0.20884	N	0.083944	T	0.33089	0.0851	M	0.65975	2.015	0.09310	N	1	B	0.31968	0.349	B	0.24006	0.05	T	0.14559	-1.0468	10	0.26408	T	0.33	.	7.9822	0.30190	0.1123:0.0:0.562:0.3257	.	1158	Q8IY21	DDX60_HUMAN	G	1158;250	ENSP00000377344:R1158G	ENSP00000377344:R1158G	R	-	1	2	DDX60	169413522	0.012000	0.17670	0.008000	0.14137	0.043000	0.13939	0.677000	0.25262	0.312000	0.23038	0.378000	0.23410	AGG			0.378	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364622.1		NM_017631		C	169176947	T	C	169176947	3	2	23	1	0	0	0	0	1	0	0	0	4380	1608	56	4	1718	4	DDX60	4	169176947	Missense_Mutation	SNP	T	TCGA-2G-AAG8-01A-31D-A42Y-10		169176947	21977329	15	1469											
RAPGEF6	51735	broad.mit.edu;mdanderson.org	37	chr5	130799747	130799747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcaccttccattgagttGaattctatcagctaatttgg	10	17	6	8	0	3	2	2	2	1	0	4	2	4	2	2	1	1	2	2	1	4	9			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr5:130799747G>T	ENST00000509018.1	-	18	2672	c.2467C>A	c.(2467-2469)Caa>Aaa	p.Q823K	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.Q828K|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.Q873K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Q823K|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.Q538K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.Q823K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.Q823K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.Q823K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	823	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)	p.Q873*(1)|p.Q823*(1)		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)		CCATTGAGTTGAATTCTATCA	0.358																																					p.Q828K	Melanoma(168;435 1955 13113 13877 23213)												RAPGEF6_ENST00000509018,face,carcinoma,0,2	RAPGEF6	361	2	2	Substitution - Nonsense(2)	skin(2)	c.C2482A												91	90	90					5																	130799747		2203	4300	6503	SO:0001583	missense	51735	exon19			TGAGTTGAATTCT	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.2467C>A	5.37:g.130799747G>T	ENSP00000421684:p.Gln823Lys		101	0	0		79	0.06	5	NM_001164387	1	0	0	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112566	0.94339	.	.	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	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.93	5.93	0.95920	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.098975	0.64402	D	0.000001	T	0.43299	0.1241	M	0.67953	2.075	0.80722	D	1	D;P;D;D;D;D;D	0.64830	0.969;0.933;0.961;0.969;0.994;0.984;0.973	P;P;P;P;D;P;P	0.71184	0.9;0.853;0.774;0.867;0.972;0.839;0.898	T	0.04930	-1.0917	10	0.49607	T	0.09	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	823;823;823;538;873;828;823	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	K	823;828;823;823;828;538;823;823;873	ENSP00000421684:Q823K;ENSP00000309298:Q828K;ENSP00000426081:Q823K;ENSP00000296859:Q823K;ENSP00000426910:Q538K;ENSP00000311419:Q823K;ENSP00000425389:Q823K;ENSP00000426948:Q873K	ENSP00000426948:Q873K	Q	-	1	0	RAPGEF6;FNIP1	130827646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.829000	0.97493	0.644000	0.83932	CAA			0.358	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000370059.1		NM_016340		T	130799747	G	T	130799747	3	4	23	1	0	0	0	0	1	0	0	0	13071	1299	45	3	2849	3	RAPGEF6	5	130799747	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		130799747	50115513	16	1470											
HIST1H4G	8369	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	26246971	26246971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggcggtgaccgtcttgcGcttggcgtgctccgtgttgg	2	12	16	11	5	1	1	0	1	1	0	2	1	2	1	2	4	2	3	2	4	0	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr6:26246971G>A	ENST00000244537.4	-	1	288	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	79						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACCGTCTTGCGCTTGGCGTGC	0.582																																					p.R79C													.	.			0			c.C235T												74	62	66					6																	26246971		2203	4300	6503	SO:0001583	missense	8369	exon1			TCTTGCGCTTGGC	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"Histones / Replication-dependent"	4792	protein-coding gene	gene with protein product		602832	"H4 histone family, member L", "histone 1, H4g"	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.235C>T	6.37:g.26246971G>A	ENSP00000244537:p.Arg79Cys		137	0	0		92	0.05	5	NM_003547	0		0		Missense_Mutation	SNP	ENST00000244537.4	37	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	4.660	0.122642	0.08931	.	.	ENSG00000124578	ENST00000244537	T	0.78003	-1.14	3.05	2.02	0.26589	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.54062	0.1835	.	.	.	0.43628	D	0.996013	B	0.33413	0.411	B	0.30572	0.117	T	0.63211	-0.6688	8	0.66056	D	0.02	.	7.8285	0.29328	0.0:0.0:0.5169:0.4831	.	79	Q99525	H4G_HUMAN	C	79	ENSP00000244537:R79C	ENSP00000244537:R79C	R	-	1	0	HIST1H4G	26354950	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.455000	0.44988	1.686000	0.51046	0.391000	0.25812	CGC			0.582	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040107.1		NM_003547		A	26246971	G	A	26246971	3	1	23	1	0	0	0	0	1	0	0	0	7186	1087	38	1	65	1	HIST1H4G	6	26246971	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		26246971	144868096	17	1471											
KCTD20	222658	bcgsc.ca;mdanderson.org	37	chr6	36446943	36446943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcactcggcccaatgaGaagggagagtatgagattgc	13	8	12	8	1	1	3	1	2	0	3	2	6	1	3	1	2	2	1	1	2	4	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr6:36446943G>T	ENST00000373731.2	+	4	871	c.480G>T	c.(478-480)gaG>gaT	p.E160D	KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_Missense_Mutation_p.E15D	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	160	BTB.				protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GGCCCAATGAGAAGGGAGAGT	0.448																																					p.E160D													.	KCTD20	37		0			c.G480T												196	153	168					6																	36446943		2203	4300	6503	SO:0001583	missense	222658	exon4			CAATGAGAAGGGA	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.480G>T	6.37:g.36446943G>T	ENSP00000362836:p.Glu160Asp		83	0.0120481928	1		81	0.06	5	NM_173562	14	0	0	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573179	0.65765	.	.	ENSG00000112078	ENST00000373731;ENST00000536244	D;D	0.83914	-1.78;-1.78	5.29	1.49	0.22878	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.243209	0.35903	N	0.002906	T	0.45975	0.1369	N	0.17922	0.545	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32613	-0.9900	10	0.30078	T	0.28	-15.3208	2.0581	0.03586	0.2841:0.122:0.4685:0.1253	.	160	Q7Z5Y7	KCD20_HUMAN	D	160;15	ENSP00000362836:E160D;ENSP00000439118:E15D	ENSP00000362836:E160D	E	+	3	2	KCTD20	36554921	0.335000	0.24748	0.996000	0.52242	0.998000	0.95712	-0.332000	0.07904	0.084000	0.17077	0.655000	0.94253	GAG			0.448	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040345.2		NM_173562		T	36446943	G	T	36446943	3	4	23	1	0	0	0	0	1	0	0	0	8123	933	33	3	490	3	KCTD20	6	36446943	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	10199972	36446943	134668124	18	1472											
C6orf170	221322	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	121562693	121562693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccaaattttttatgcctGctgacctaacagcataaata	14	13	5	9	0	0	1	0	1	0	0	0	1	0	1	3	0	5	2	3	0	7	7			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr6:121562693G>T	ENST00000398212.2	-	19	2212	c.2163C>A	c.(2161-2163)agC>agA	p.S721R	TBC1D32_ENST00000275159.6_Missense_Mutation_p.S721R	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	721					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TTTTATGCCTGCTGACCTAAC	0.383																																					p.S721R													.	C6orf170	146		0			c.C2163A												82	78	79					6																	121562693		1901	4129	6030	SO:0001583	missense	221322	exon19			ATGCCTGCTGACC	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2163C>A	6.37:g.121562693G>T	ENSP00000381270:p.Ser721Arg		58	0	0		62	0.08	5	NM_152730	1	0	0	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822978	0.32237	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.25250	1.81;1.81	5.62	2.78	0.32641	.	0.317535	0.41001	N	0.000961	T	0.26810	0.0656	M	0.61703	1.905	0.34123	D	0.664356	P;D	0.58620	0.879;0.983	P;P	0.62649	0.55;0.905	T	0.09422	-1.0675	10	0.59425	D	0.04	.	6.9244	0.24405	0.226:0.1433:0.6307:0.0	.	721;721	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	R	721	ENSP00000275159:S721R;ENSP00000381270:S721R	ENSP00000275159:S721R	S	-	3	2	C6orf170	121604392	0.995000	0.38212	0.477000	0.27303	0.190000	0.23558	0.830000	0.27462	0.815000	0.34398	0.557000	0.71058	AGC			0.383	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380937.2		NM_152730		T	121562693	G	T	121562693	3	4	23	1	0	0	0	0	1	0	0	0	2346	1310	46	2	1666	2	C6orf170	6	121562693	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	85115750	121562693	49552374	19	1473											
PDE10A	10846	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	165809921	165809921	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgttacccggtaaatgcActctgagtggcgaattctat	10	12	9	10	3	2	1	0	1	2	0	3	2	2	1	1	2	2	3	1	2	5	4			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr6:165809921A>C	ENST00000366882.1	-	15	1430	c.1276T>G	c.(1276-1278)Tgc>Ggc	p.C426G	PDE10A_ENST00000539869.2_Missense_Mutation_p.C436G|PDE10A_ENST00000354448.4_Missense_Mutation_p.C426G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	426					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CGGTAAATGCACTCTGAGTGG	0.413																																					p.C436G	Esophageal Squamous(22;308 615 5753 12038 40624)												.	PDE10A	154		0			c.T1306G												176	149	158					6																	165809921		2203	4300	6503	SO:0001583	missense	10846	exon14			AAATGCACTCTGA	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1276T>G	6.37:g.165809921A>C	ENSP00000355847:p.Cys426Gly		125	0.048	6		120	0.13	16	NM_001130690	0		0	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	A	8.300	0.819729	0.16607	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.68903	-0.36;-0.36	5.34	5.34	0.76211	.	0.000000	0.64402	U	0.000004	T	0.67562	0.2906	L	0.51422	1.61	0.80722	D	1	D;B	0.65815	0.995;0.033	D;B	0.72982	0.979;0.002	T	0.64871	-0.6305	10	0.16420	T	0.52	.	15.3211	0.74124	1.0:0.0:0.0:0.0	.	436;426	Q9ULW9;Q9Y233	.;PDE10_HUMAN	G	426;454;436;426;425	ENSP00000355847:C426G;ENSP00000346435:C426G	ENSP00000341187:C436G	C	-	1	0	PDE10A	165729911	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	8.907000	0.92634	2.029000	0.59856	0.528000	0.53228	TGC			0.413	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000043031.1				C	165809921	A	C	165809921	3	2	23	1	0	0	0	0	1	0	0	0	11647	159	6	4	1099	4	PDE10A	6	165809921	Missense_Mutation	SNP	A	TCGA-2G-AAG8-01A-31D-A42Y-10	44247228	165809921	5305146	20	1474											
CYTH3	9265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	6204910	6204910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaggccccactcacttgatgGatttcatccactcctccttc	7	12	6	16	0	2	1	2	1	0	0	6	3	5	2	5	2	0	0	5	2	0	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:6204910G>C	ENST00000350796.3	-	12	1257	c.1121C>G	c.(1120-1122)tCc>tGc	p.S374C	CYTH3_ENST00000488964.1_5'Flank|CYTH3_ENST00000396741.2_Missense_Mutation_p.S289C	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	375	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TCACTTGATGGATTTCATCCA	0.647																																					p.S374C													.	.			0			c.C1121G												34	36	36					7																	6204910		2203	4300	6503	SO:0001583	missense	9265	exon12			TTGATGGATTTCA	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1121C>G	7.37:g.6204910G>C	ENSP00000297044:p.Ser374Cys		197	0	0		204	0.12	24	NM_004227	54	0.2	11	A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664755	0.47572	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.76060	-0.99;-0.99	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	L	0.45470	1.425	0.80722	D	1	B;B	0.27166	0.01;0.17	B;B	0.21151	0.014;0.033	T	0.64257	-0.6450	10	0.25106	T	0.35	.	18.7418	0.91775	0.0:0.0:1.0:0.0	.	289;374	B7Z2V9;O43739-2	.;.	C	374;289	ENSP00000297044:S374C;ENSP00000379967:S289C	ENSP00000297044:S374C	S	-	2	0	CYTH3	6171435	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.395000	0.66291	2.518000	0.84900	0.561000	0.74099	TCC			0.647	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207396.2		NM_004227		C	6204910	G	C	6204910	3	2	23	1	0	0	0	0	1	0	0	0	4207	1174	41	5	86	5	CYTH3	7	6204910	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		6204910	152933753	21	1475											
FERD3L	222894	hgsc.bcm.edu	37	chr7	19184768	19184768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcctcctcttctccgTccccctggtccacttcgcac	2	13	4	22	2	2	0	0	0	2	0	9	0	7	0	7	1	0	1	7	1	0	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:19184768T>C	ENST00000275461.3	-	1	276	c.218A>G	c.(217-219)gAc>gGc	p.D73G	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	73					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						ctcttctccgtccccctggtc	0.647																																					p.D73G													FERD3L,NS,carcinoma,+1,1	FERD3L	1	1	0			c.A218G												65	45	52					7																	19184768		2203	4300	6503	SO:0001583	missense	222894	exon1			TCTCCGTCCCCCT	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.218A>G	7.37:g.19184768T>C	ENSP00000275461:p.Asp73Gly		77	0	0		74	0.04	3	NM_152898	0		0	Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	T	3.543	-0.093274	0.07053	.	.	ENSG00000146618	ENST00000275461	D	0.96685	-4.09	5.05	2.66	0.31614	.	0.521231	0.17355	N	0.177264	D	0.89206	0.6649	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.77354	-0.2619	10	0.20046	T	0.44	.	6.7811	0.23646	0.0:0.1903:0.0:0.8097	.	73	Q96RJ6	FER3L_HUMAN	G	73	ENSP00000275461:D73G	ENSP00000275461:D73G	D	-	2	0	FERD3L	19151293	0.992000	0.36948	0.004000	0.12327	0.214000	0.24535	3.249000	0.51437	0.279000	0.22186	0.528000	0.53228	GAC			0.647	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207627.1				C	19184768	T	C	19184768	3	2	23	1	0	0	0	0	1	0	0	0	5829	1667	58	4	286	4	FERD3L	7	19184768	Missense_Mutation	SNP	T	TCGA-2G-AAG8-01A-31D-A42Y-10	12979858	19184768	139953895	22	1476											
IFRD1	3475	broad.mit.edu;bcgsc.ca	37	chr7	112115496	112115497	+	Frame_Shift_Del	DEL	CT	CT	-																															tcattttagcatttatataaCtctgcagccttcaaagctcg																										TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:112115496_112115497delCT	ENST00000403825.3	+	12	1539_1540	c.1278_1279delCT	c.(1276-1281)aactctfs	p.S427fs	IFRD1_ENST00000535603.1_Frame_Shift_Del_p.S377fs|IFRD1_ENST00000005558.4_Frame_Shift_Del_p.S427fs	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	427					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						ATTTATATAACTCTGCAGCCTT	0.332																																					p.426_427del													.	IFRD1	46		0			c.1278_1279del																																									SO:0001589	frameshift_variant	3475	exon13			ATATAACTCTGCA	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.1278_1279delCT	7.37:g.112115498_112115499delCT	ENSP00000384477:p.Ser427fs		46	0	0		41	0.22	9	NM_001007245	287	0	0	B7Z5G1|O75234|Q5U013|Q9BVE4	Frame_Shift_Del	DEL	ENST00000403825.3	37	CCDS34736.1																																																																																					0.332	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338700.1		NM_001550		-	112115497	CT	-	112115496	7	5	23	1	0	1	0	1	0	0	0	0	7568	564	20	0	1324	0	IFRD1	7	112115496	Frame_Shift_Del	DEL	CT	TCGA-2G-AAG8-01A-31D-A42Y-10	92930728	112115496	47023167	23	1477											
CCDC136	64753	hgsc.bcm.edu	37	chr7	128441311	128441311	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgaacttaaggaaataGaacaggaattgcatttggcc	17	8	10	6	1	0	1	0	0	0	1	0	4	0	3	1	3	4	1	1	3	7	4	rs200870724		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:128441311G>T	ENST00000297788.4	+	4	785	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	CCDC136_ENST00000464832.1_Nonsense_Mutation_p.E190*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.E140*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.E190*	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	140	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						TAAGGAAATAGAACAGGAATT	0.488																																					p.E190X													NAG6,NS,carcinoma,0,3	NAG6	0	3	0			c.G568T												76	77	76					7																	128441311		1986	4165	6151	SO:0001587	stop_gained	64753	exon5			GAAATAGAACAGG		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.418G>T	7.37:g.128441311G>T	ENSP00000297788:p.Glu140*		45	0	0		75	0.04	3	NM_001201372	16	0	0	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Nonsense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.150448|6.150448	0.97329|0.97329	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524|ENST00000494552	.|.	.|.	.|.	5.65|5.65	4.75|4.75	0.60458|0.60458	.|.	0.235049|.	0.44688|.	D|.	0.000431|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.17369|.	T|.	0.5|.	-12.2687|-12.2687	9.3948|9.3948	0.38394|0.38394	0.0:0.1575:0.6791:0.1633|0.0:0.1575:0.6791:0.1633	.|.	.|.	.|.	.|.	X|Y	190;190;140;140;140;140|16	.|.	ENSP00000297788:E140X|.	E|X	+|+	1|3	0|2	CCDC136|CCDC136	128228547|128228547	0.997000|0.997000	0.39634|0.39634	0.963000|0.963000	0.40424|0.40424	0.553000|0.553000	0.35397|0.35397	2.728000|2.728000	0.47319|0.47319	1.359000|1.359000	0.45940|0.45940	0.655000|0.655000	0.94253|0.94253	GAA|TAG			0.488	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000350641.1		NM_022742		T	128441311	G	T	128441311	4	4	23	1	0	0	0	0	0	1	0	0	2772	943	33	3	432	3	CCDC136	7	128441311	Nonsense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	16325815	128441311	30697352	24	1478											
CHPF2	54480	mdanderson.org	37	chr7	150935131	150935131	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtaccctgggacgaggctGgcctggctcgctgtgcgagc	4	7	17	13	4	0	0	0	0	0	0	1	3	0	1	2	5	3	4	2	5	1	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:150935131G>T	ENST00000035307.2	+	4	3196	c.1683G>T	c.(1681-1683)ctG>ctT	p.L561L	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Silent_p.L553L|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	561					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)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GGACGAGGCTGGCCTGGCTCG	0.627																																					p.L561L													.	.			0			c.G1683T												34	36	36					7																	150935131		2202	4298	6500	SO:0001819	synonymous_variant	54480	exon4			GAGGCTGGCCTGG	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1683G>T	7.37:g.150935131G>T			46	0	0		49	0.06	3	NM_019015	200	0	0	B2DBD8|Q6P2I4|Q6UXD2	Silent	SNP	ENST00000035307.2	37	CCDS34779.1																																																																																					0.627	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348648.2		NM_019015		T	150935131	G	T	150935131	2	4	23	1	0	0	0	0	0	0	0	1	3371	1335	47	3		3	CHPF2	7	150935131	Silent	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	22493820	150935131	8203532	25	1479											
MYOM2	9172	mdanderson.org	37	chr8	2000361	2000361	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagacgtccctgggaGgaaccatctgcagggtctgt	8	7	13	13	1	2	1	0	0	2	1	3	3	3	3	4	3	3	1	4	3	1	0			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr8:2000361G>T	ENST00000262113.4	+	3	334	c.193G>T	c.(193-195)Gga>Tga	p.G65*	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	65					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)		GTCCCTGGGAGGAACCATCTG	0.582																																					p.G65X													.	.			0			c.G193T												130	117	122					8																	2000361		2203	4300	6503	SO:0001587	stop_gained	9172	exon3			CTGGGAGGAACCA		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.193G>T	8.37:g.2000361G>T	ENSP00000262113:p.Gly65*		83	0	0		52	0.06	3	NM_003970	0		0	Q7Z3Y2	Nonsense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298425	0.81025	.	.	ENSG00000036448	ENST00000262113	.	.	.	4.71	-0.421	0.12332	.	0.941007	0.08997	N	0.863591	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.7598	0.34667	0.55:0.0:0.45:0.0	.	.	.	.	X	65	.	ENSP00000262113:G65X	G	+	1	0	MYOM2	1987768	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	-0.028000	0.13850	-0.137000	0.14449	GGA			0.582	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251249.1		NM_003970		T	2000361	G	T	2000361	4	4	23	1	0	0	0	0	0	1	0	0	10108	1001	35	3	199	3	MYOM2	8	2000361	Nonsense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		2000361	144363661	26	1480											
COL14A1	7373	mdanderson.org	37	chr8	121327809	121327809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagagaaaggagatactgGccttccaggtccacaggtat	13	7	13	8	0	0	2	0	0	0	2	2	5	2	3	3	5	1	1	3	5	3	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr8:121327809G>T	ENST00000297848.3	+	39	4859	c.4589G>T	c.(4588-4590)gGc>gTc	p.G1530V	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1530V|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1435V	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)			GGAGATACTGGCCTTCCAGGT	0.388																																					p.G1530V													.	.			0			c.G4589T												100	116	111					8																	121327809		2203	4300	6503	SO:0001583	missense	7373	exon39			ATACTGGCCTTCC		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.4589G>T	8.37:g.121327809G>T	ENSP00000297848:p.Gly1530Val		66	0	0		41	0.07	3	NM_021110	17	0	0		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465580	0.63513	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.99637	-6.29;-6.29;-6.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96983	0.9716	10	0.87932	D	0	.	16.714	0.85393	0.0:0.0:1.0:0.0	.	1530	Q05707	COEA1_HUMAN	V	1530;1530;1435	ENSP00000311809:G1530V;ENSP00000297848:G1530V;ENSP00000247781:G1435V	ENSP00000247781:G1435V	G	+	2	0	COL14A1	121396990	1.000000	0.71417	0.174000	0.22961	0.938000	0.57974	6.794000	0.75135	2.616000	0.88540	0.655000	0.94253	GGC			0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313657.2		NM_021110		T	121327809	G	T	121327809	3	4	23	1	0	0	0	0	1	0	0	0	3673	1203	42	2	4739	2	COL14A1	8	121327809	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	119327448	121327809	25036213	27	1481											
PSCA	8000	mdanderson.org	37	chr8	143762760	143762760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcactgccctgctgtGctactcctgcaaagcccagg	8	7	10	16	0	0	0	0	0	0	0	1	0	1	0	3	2	6	4	3	2	2	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr8:143762760G>T	ENST00000301258.4	+	2	124	c.41G>T	c.(40-42)tGc>tTc	p.C14F	PSCA_ENST00000505305.1_3'UTR|PSCA_ENST00000513264.1_Missense_Mutation_p.C14F	NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	23						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCCTGCTGTGCTACTCCTGC	0.672																																					p.C14F													.	.			0			c.G41T												14	18	17					8																	143762760		2032	4156	6188	SO:0001583	missense	8000	exon2			TGCTGTGCTACTC	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.41G>T	8.37:g.143762760G>T	ENSP00000301258:p.Cys14Phe		59	0	0		43	0.07	3	NM_005672	0		0	Q6UW92	Missense_Mutation	SNP	ENST00000301258.4	37	CCDS47925.2	.	.	.	.	.	.	.	.	.	.	G	8.098	0.775971	0.16051	.	.	ENSG00000167653	ENST00000301258;ENST00000513264	.	.	.	2.97	2.97	0.34412	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.080716	0.49916	D	0.000132	T	0.78027	0.4219	M	0.84948	2.725	0.37972	D	0.933309	D	0.76494	0.999	D	0.87578	0.998	T	0.82504	-0.0424	9	0.87932	D	0	.	9.7139	0.40263	0.0:0.0:1.0:0.0	.	23	O43653	PSCA_HUMAN	F	23	.	ENSP00000301258:C23F	C	+	2	0	PSCA	143759762	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	3.455000	0.52993	1.983000	0.57843	0.456000	0.33151	TGC			0.672	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367112.2		NM_005672		T	143762760	G	T	143762760	3	4	23	1	0	0	0	0	1	0	0	0	12665	1319	46	2	47	2	PSCA	8	143762760	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	22434951	143762760	2601262	28	1482											
WNK2	65268	mdanderson.org	37	chr9	95997149	95997149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacgatgagtccgtggacGtctatgcctttgggatgtgc	7	12	13	9	3	1	1	0	1	1	0	2	4	2	3	2	2	3	0	2	2	2	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:95997149G>T	ENST00000297954.4	+	4	1135	c.1135G>T	c.(1135-1137)Gtc>Ttc	p.V379F	WNK2_ENST00000395475.2_Missense_Mutation_p.V365F|WNK2_ENST00000395477.2_Missense_Mutation_p.V379F|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	379	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						GTCCGTGGACGTCTATGCCTT	0.602																																					p.V379F													.	.			0			c.G1135T												138	95	110					9																	95997149		2203	4300	6503	SO:0001583	missense	65268	exon4			GTGGACGTCTATG	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.1135G>T	9.37:g.95997149G>T	ENSP00000297954:p.Val379Phe		90	0	0		69	0.06	4	NM_006648	6	0	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.934634	0.73442	.	.	ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.65533	0.2700	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;1.0;1.0;1.0	T	0.75431	-0.3320	10	0.87932	D	0	.	18.3104	0.90197	0.0:0.0:1.0:0.0	.	379;379;379;379	Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	F	379;379;379;365	ENSP00000412465:V379F;ENSP00000297954:V379F;ENSP00000378860:V379F;ENSP00000378858:V365F	ENSP00000297954:V379F	V	+	1	0	WNK2	95036970	1.000000	0.71417	0.742000	0.31022	0.784000	0.44337	9.445000	0.97587	2.375000	0.81037	0.655000	0.94253	GTC			0.602	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000317359.1		NM_006648		T	95997149	G	T	95997149	3	4	23	1	0	0	0	0	1	0	0	0	17402	1145	40	1	1149	1	WNK2	9	95997149	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		95997149	45216282	29	1483											
HSPA5	3309	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	127999044	127999044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattcaatcttttcttctaCagctttttccatggtctcct	6	19	3	13	0	5	0	1	0	4	0	7	0	6	0	3	1	2	1	3	1	2	7			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:127999044C>T	ENST00000324460.6	-	8	1995	c.1792G>A	c.(1792-1794)Gta>Ata	p.V598I		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	598					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)	TTTTCTTCTACAGCTTTTTCC	0.383										Prostate(1;0.17)																											p.V598I													.	HSPA5	41		0			c.G1792A												94	96	96					9																	127999044		2203	4300	6503	SO:0001583	missense	3309	exon8			CTTCTACAGCTTT		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.1792G>A	9.37:g.127999044C>T	ENSP00000324173:p.Val598Ile		140	0.0071428571	1		125	0.1	13	NM_005347	5985	0.2	1219	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199980	0.38905	.	.	ENSG00000044574	ENST00000324460	T	0.14766	2.48	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.09113	0.0225	N	0.05592	-0.015	0.80722	D	1	B	0.14805	0.011	B	0.20577	0.03	T	0.25950	-1.0117	10	0.33141	T	0.24	-8.1772	17.3707	0.87376	0.0:1.0:0.0:0.0	.	598	P11021	GRP78_HUMAN	I	598	ENSP00000324173:V598I	ENSP00000324173:V598I	V	-	1	0	HSPA5	127038865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.414000	0.81942	0.585000	0.79938	GTA			0.383	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054062.1				T	127999044	C	T	127999044	3	4	23	1	0	0	0	0	1	0	0	0	7429	478	17	3	176	3	HSPA5	9	127999044	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	32001895	127999044	13214387	30	1484											
GAPVD1	26130	broad.mit.edu	37	chr9	128099583	128099583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaatcctggaaggagctGtgggaggaaatgaggccagg	11	5	16	9	0	0	1	0	1	0	0	1	5	1	5	4	6	1	1	4	6	3	0			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:128099583G>C	ENST00000495955.1	+	17	2880	c.2590G>C	c.(2590-2592)Gtg>Ctg	p.V864L	GAPVD1_ENST00000394104.2_Missense_Mutation_p.V864L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.V864L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.V843L|GAPVD1_ENST00000470056.1_Missense_Mutation_p.V864L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.V891L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.V838L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.V843L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	864					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						Ggaaggagctgtgggaggaaa	0.507																																					p.V891L													.	GAPVD1	124		0			c.G2671C												85	84	84					9																	128099583		2203	4300	6503	SO:0001583	missense	26130	exon16			GGAGCTGTGGGAG		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.2590G>C	9.37:g.128099583G>C	ENSP00000419063:p.Val864Leu		108	0	0		84	0.04	3	NM_015635	19	0	0	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.31|15.31	2.794252|2.794252	0.50102|0.50102	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	6.17|6.17	4.32|4.32	0.51571|0.51571	.|.	.|0.427525	.|0.27504	.|N	.|0.019077	T|T	0.18676|0.18676	0.0448|0.0448	N|N	0.03608|0.03608	-0.345|-0.345	0.28272|0.28272	N|N	0.924364|0.924364	.|B;B;B;B;B;B	.|0.09022	.|0.0;0.001;0.002;0.002;0.002;0.0	.|B;B;B;B;B;B	.|0.06405	.|0.0;0.0;0.002;0.002;0.002;0.0	T|T	0.07888|0.07888	-1.0749|-1.0749	5|9	.|0.23302	.|T	.|0.38	.|.	10.0132|10.0132	0.41999|0.41999	0.1862:0.0:0.8138:0.0|0.1862:0.0:0.8138:0.0	.|.	.|838;864;864;843;864;891	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.;GAPD1_HUMAN;.;.;.;.	S|L	700|864;891;864;838;843;864;864;864;843	.|.	.|ENSP00000265956:V838L	C|V	+|+	2|1	0|0	GAPVD1|GAPVD1	127139404|127139404	0.979000|0.979000	0.34478|0.34478	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.742000|1.742000	0.38248|0.38248	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGT|GTG			0.507	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding		OTTHUMT00000355644.1				C	128099583	G	C	128099583	3	2	23	1	0	0	0	0	1	0	0	0	6253	1377	48	5	2729	5	GAPVD1	9	128099583	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	100539	128099583	13113848	31	1485											
ABCA2	20	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	139906169	139906169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgaacacaaacaggatgatGacacagcaggtagcggggac	15	4	13	9	2	0	2	0	2	0	0	1	5	0	4	0	4	4	2	0	4	3	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:139906169G>A	ENST00000371605.3	-	35	5712	c.5565C>T	c.(5563-5565)gtC>gtT	p.V1855V	ABCA2_ENST00000341511.6_Silent_p.V1856V|ABCA2_ENST00000265662.5_Silent_p.V1856V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1855					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)		ACAGGATGATGACACAGCAGG	0.657																																					p.V1886V													.	.			0			c.C5658T												31	35	34					9																	139906169		2004	4116	6120	SO:0001819	synonymous_variant	20	exon36			GATGATGACACAG	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.5565C>T	9.37:g.139906169G>A			69	0	0		63	0.13	8	NM_212533	21	0.05	1	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37																																																																																						0.657	ABCA2-202	KNOWN	basic	protein_coding	protein_coding				NM_001606		A	139906169	G	A	139906169	2	1	23	1	0	0	0	0	0	0	0	1	32	1277	45	3		3	ABCA2	9	139906169	Silent	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	11806586	139906169	1307262	32	1486											
C10orf114	399726	mdanderson.org	37	chr10	21784697	21784697	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggatggagccagggctGcgggttgcgcgcgggctggg	3	5	23	10	6	0	0	0	0	0	0	0	2	0	2	1	7	3	3	1	7	0	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr10:21784697G>T	ENST00000377113.5	-	2	690	c.243C>A	c.(241-243)cgC>cgA	p.R81R	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	81																	AGCCAGGGCTGCGGGTTGCGC	0.716											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R81R													.	.			0			c.C243A												26	32	30					10																	21784697		2197	4292	6489	SO:0001819	synonymous_variant	399726	exon2			AGGGCTGCGGGTT	BC040880	CCDS31163.1	10p12.31	2013-07-17	2013-07-17	2013-07-17	ENSG00000204682	ENSG00000204682			31448	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 114"	C10orf114		21804547	Standard	NM_001010911		Approved	bA418C1.3	uc001iqn.4	Q5T4H9	OTTHUMG00000017795	ENST00000377113.5:c.243C>A	10.37:g.21784697G>T			26	0	0	751	21	0.1	2	NM_001010911	0		0	A1L4M3	Silent	SNP	ENST00000377113.5	37	CCDS31163.1																																																																																					0.716	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047130.2		NM_001010911		T	21784697	G	T	21784697	2	4	23	1	0	0	0	0	0	0	0	1	1587	1306	46	2		2	C10orf114	10	21784697	Silent	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		21784697	113750050	33	1487											
DHDPSL	112817	mdanderson.org	37	chr10	99359464	99359464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctctctccaatccctgtgGtgctgtacagtgtcccagcc	6	12	8	15	0	2	0	0	0	2	0	6	0	4	0	4	1	3	2	4	1	2	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr10:99359464G>T	ENST00000370646.4	+	4	857	c.496G>T	c.(496-498)Gtg>Ttg	p.V166L	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	166					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						AATCCCTGTGGTGCTGTACAG	0.617																																					p.V166L													.	.			0			c.G496T												93	96	95					10																	99359464		2203	4300	6503	SO:0001583	missense	112817	exon4			CCTGTGGTGCTGT	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.496G>T	10.37:g.99359464G>T	ENSP00000359680:p.Val166Leu		77	0	0		46	0.07	3	NM_138413	0		0	A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061518	0.55432	.	.	ENSG00000241935	ENST00000370646	D	0.95788	-3.81	5.09	5.09	0.68999	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.90696	0.7081	N	0.20304	0.555	0.58432	D	0.999999	B	0.12630	0.006	B	0.19946	0.027	D	0.87335	0.2327	10	0.51188	T	0.08	-16.529	12.8813	0.58017	0.0785:0.0:0.9214:0.0	.	166	Q86XE5	HOGA1_HUMAN	L	166	ENSP00000359680:V166L	ENSP00000359680:V166L	V	+	1	0	HOGA1	99349454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.283000	0.65621	2.360000	0.80028	0.650000	0.86243	GTG			0.617	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049726.1		NM_138413		T	99359464	G	T	99359464	3	4	23	1	0	0	0	0	1	0	0	0	4485	1261	44	3	510	3	DHDPSL	10	99359464	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	77574767	99359464	36175283	34	1488											
KCNQ1	3784	mdanderson.org	37	chr11	2591884	2591884	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctggtggtgttcttcggGacggagtacgtggtccgcct	3	12	17	9	4	1	0	0	0	1	0	3	2	2	2	2	5	2	3	2	5	1	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:2591884G>T	ENST00000155840.5	+	3	612	c.504G>T	c.(502-504)ggG>ggT	p.G168G	KCNQ1_ENST00000335475.5_Silent_p.G41G	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	168			FG -> W (in LQT1).|G -> R (in LQT1; dbSNP:rs179489). {ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:9693036}.		atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGTTCTTCGGGACGGAGTACG	0.647																																					p.G168G													.	.			0			c.G504T	GRCh37	CD001501	KCNQ1	D								119	97	104					11																	2591884		2202	4299	6501	SO:0001819	synonymous_variant	3784	exon3			CTTCGGGACGGAG	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.504G>T	11.37:g.2591884G>T			30	0	0		34	0.09	3	NM_000218	4	0	0	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	37	CCDS7736.1																																																																																					0.647	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027382.2		NM_000218		T	2591884	G	T	2591884	2	4	23	1	0	0	0	0	0	0	0	1	8097	1161	41	3		3	KCNQ1	11	2591884	Silent	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		2591884	132414632	35	1489											
LRP4	4038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	46898070	46898070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaaggttctgccacacCaacactttccgcatggaccc	9	9	7	16	1	2	0	1	0	1	0	3	1	3	1	4	2	2	2	4	2	2	2			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:46898070C>T	ENST00000378623.1	-	25	3725	c.3483G>A	c.(3481-3483)ttG>ttA	p.L1161L	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1161					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)		TCTGCCACACCAACACTTTCC	0.587																																					p.L1161L													.	.			0			c.G3483A												168	146	153					11																	46898070		2201	4299	6500	SO:0001819	synonymous_variant	4038	exon25			CCACACCAACACT	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.3483G>A	11.37:g.46898070C>T			101	0	0		69	0.2	14	NM_002334	33	0.24	8	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																					0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391133.1		NM_002334		T	46898070	C	T	46898070	2	4	23	1	0	0	0	0	0	0	0	1	8975	593	21	3		3	LRP4	11	46898070	Silent	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	44306186	46898070	88108446	36	1490											
EHBP1L1	254102	mdanderson.org	37	chr11	65349378	65349378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagaggtcaggagtcagagCtggggaggctgaagagagtt	12	7	18	4	0	2	4	2	1	0	3	2	7	2	6	0	5	1	3	0	5	2	2			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:65349378C>A	ENST00000309295.4	+	9	1500	c.1235C>A	c.(1234-1236)gCt>gAt	p.A412D		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	412						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						GGAGTCAGAGCTGGGGAGGCT	0.567																																					p.A412D													.	.			0			c.C1235A												93	110	104					11																	65349378		2165	4271	6436	SO:0001583	missense	254102	exon9			TCAGAGCTGGGGA	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.1235C>A	11.37:g.65349378C>A	ENSP00000312671:p.Ala412Asp		52	0	0		37	0.08	3	NM_001099409	23	0	0	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.845375|2.845375	0.51164|0.51164	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000309295;ENST00000533237|ENST00000533465	T;D|.	0.81821|.	-0.49;-1.54|.	4.33|4.33	0.0192|0.0192	0.14120|0.14120	.|.	0.804401|.	0.10821|.	N|.	0.630452|.	T|T	0.33000|0.33000	0.0848|0.0848	L|L	0.36672|0.36672	1.1|1.1	0.33627|0.33627	D|D	0.605499|0.605499	P;P|.	0.35433|.	0.501;0.501|.	B;B|.	0.32289|.	0.109;0.143|.	T|T	0.39292|0.39292	-0.9621|-0.9621	10|5	0.87932|.	D|.	0|.	.|.	0.8192|0.8192	0.01108|0.01108	0.1562:0.3638:0.1711:0.309|0.1562:0.3638:0.1711:0.309	.|.	412;412|.	E9PIH6;Q8N3D4|.	.;EH1L1_HUMAN|.	D|R	412|3	ENSP00000312671:A412D;ENSP00000431996:A412D|.	ENSP00000312671:A412D|.	A|S	+|+	2|3	0|2	EHBP1L1|EHBP1L1	65105954|65105954	0.000000|0.000000	0.05858|0.05858	0.062000|0.062000	0.19696|0.19696	0.083000|0.083000	0.17756|0.17756	0.255000|0.255000	0.18333|0.18333	0.133000|0.133000	0.18654|0.18654	-0.291000|-0.291000	0.09656|0.09656	GCT|AGC			0.567	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390145.1		XM_170658		A	65349378	C	A	65349378	3	1	23	1	0	0	0	0	1	0	0	0	4981	797	28	2	1269	2	EHBP1L1	11	65349378	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	18451308	65349378	69657138	37	1491											
ARAP1	116985	mdanderson.org	37	chr11	72425304	72425304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggacaggggctcctcaGactgtggctggggaggggat	6	7	21	7	0	1	1	1	0	0	1	2	4	2	4	1	9	0	2	1	9	0	0			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:72425304G>T	ENST00000393609.3	-	4	774	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	ARAP1_ENST00000393605.3_5'Flank|ARAP1_ENST00000359373.5_Missense_Mutation_p.S191Y|ARAP1_ENST00000426523.1_De_novo_Start_OutOfFrame|ARAP1_ENST00000334211.8_De_novo_Start_OutOfFrame|ARAP1_ENST00000455638.2_Missense_Mutation_p.S191Y|ARAP1_ENST00000429686.1_De_novo_Start_OutOfFrame	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	191					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGGCTCCTCAGACTGTGGCTG	0.612																																					p.S191Y	Ovarian(102;1198 1520 13195 17913 37529)												.	.			0			c.C572A												19	23	22					11																	72425304		1961	4120	6081	SO:0001583	missense	116985	exon4			TCCTCAGACTGTG	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.572C>A	11.37:g.72425304G>T	ENSP00000377233:p.Ser191Tyr		33	0	0		29	0.1	3	NM_001040118	20	0	0	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156328	0.09236	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393609	T;T;T	0.12147	2.71;2.71;2.71	4.02	2.14	0.27477	.	1.416890	0.04718	N	0.418908	T	0.07863	0.0197	N	0.08118	0	0.09310	N	0.999995	P;P	0.37276	0.589;0.454	B;B	0.34779	0.189;0.092	T	0.26189	-1.0110	10	0.72032	D	0.01	.	5.8819	0.18860	0.2372:0.0:0.7628:0.0	.	191;191	Q96P48-3;Q96P48	.;ARAP1_HUMAN	Y	191	ENSP00000352332:S191Y;ENSP00000390461:S191Y;ENSP00000377233:S191Y	ENSP00000352332:S191Y	S	-	2	0	ARAP1	72102952	0.432000	0.25554	0.988000	0.46212	0.027000	0.11550	1.290000	0.33319	1.045000	0.40225	-0.448000	0.05591	TCT			0.612	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347428.1		NM_001040118		T	72425304	G	T	72425304	3	4	23	1	0	0	0	0	1	0	0	0	838	942	33	3	3908	3	ARAP1	11	72425304	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	7075926	72425304	62581212	38	1492											
CEP164	22897	mdanderson.org	37	chr11	117267810	117267810	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctcctgctccagcctGtcctcccacaatgtctggca	7	10	6	18	0	2	0	0	0	2	0	6	0	5	0	5	1	3	2	5	1	2	0			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:117267810G>T	ENST00000278935.3	+	27	3429	c.3282G>T	c.(3280-3282)ctG>ctT	p.L1094L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1094					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)		GCTCCAGCCTGTCCTCCCACA	0.592																																					p.L1097L													.	.			0			c.G3291T												44	38	40					11																	117267810		2201	4296	6497	SO:0001819	synonymous_variant	22897	exon26			CAGCCTGTCCTCC	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.3282G>T	11.37:g.117267810G>T			69	0	0		45	0.07	3	NM_001271933	18	0	0	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	CCDS31683.1																																																																																					0.592	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392893.1		NM_014956		T	117267810	G	T	117267810	2	4	23	1	0	0	0	0	0	0	0	1	3251	1364	48	3		3	CEP164	11	117267810	Silent	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	44842506	117267810	17738706	39	1493											
TRIM29	23650	mdanderson.org	37	chr11	119998158	119998158	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcaccttcacttggtcCacagcatcctgctcccgctg	7	11	7	16	1	2	1	2	1	0	0	5	1	5	1	4	1	2	3	4	1	0	2			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:119998158C>A	ENST00000341846.5	-	3	1441	c.1020G>T	c.(1018-1020)gtG>gtT	p.V340V	TRIM29_ENST00000541857.1_Silent_p.V73V|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000529044.1_Silent_p.V79V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	340					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCACTTGGTCCACAGCATCCT	0.597																																					p.V340V													.	.			0			c.G1020T												179	145	157					11																	119998158		2199	4295	6494	SO:0001819	synonymous_variant	23650	exon3			TTGGTCCACAGCA	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1020G>T	11.37:g.119998158C>A			96	0	0		47	0.06	3	NM_012101	2	0	0	Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	CCDS8428.1																																																																																					0.597	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000277108.2		NM_012101		A	119998158	C	A	119998158	2	1	23	1	0	0	0	0	0	0	0	1	16527	581	21	3		3	TRIM29	11	119998158	Silent	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	2730348	119998158	15008358	40	1494											
ERC1	23085	broad.mit.edu	37	chr12	1292505	1292505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatcctcaggactgaaaaAggactcacggcttaagacac	14	6	10	11	1	2	2	2	1	0	1	3	4	3	4	1	4	0	2	1	4	3	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr12:1292505A>G	ENST00000397203.2	+	11	2481	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R	ERC1_ENST00000360905.4_Missense_Mutation_p.K692R|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.K692R|ERC1_ENST00000546231.2_Missense_Mutation_p.K692R|ERC1_ENST00000543086.3_Missense_Mutation_p.K664R|ERC1_ENST00000355446.5_Missense_Mutation_p.K692R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	692					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)			GGACTGAAAAAGGACTCACGG	0.363																																					p.K692R													.	ERC1	95		0			c.A2075G												89	88	89					12																	1292505		2203	4300	6503	SO:0001583	missense	23085	exon11			TGAAAAAGGACTC	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.2075A>G	12.37:g.1292505A>G	ENSP00000380386:p.Lys692Arg		294	0.0034013605	1		531	0.01	4	NM_178040	24	0	0	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455744	0.26161	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	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	5.37	5.37	0.77165	.	0.093551	0.64402	D	0.000001	T	0.35595	0.0937	L	0.42686	1.345	0.80722	D	1	B;B;B;B;B	0.16166	0.002;0.016;0.003;0.003;0.001	B;B;B;B;B	0.19666	0.011;0.026;0.008;0.008;0.008	T	0.16041	-1.0416	10	0.11485	T	0.65	-32.4174	15.6887	0.77434	1.0:0.0:0.0:0.0	.	440;332;664;664;692	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	664;692;664;664;392;664;664;392;692;692;692;664;440;332	ENSP00000340054:K664R;ENSP00000380386:K692R;ENSP00000438546:K664R;ENSP00000442976:K392R;ENSP00000442739:K692R;ENSP00000347621:K692R;ENSP00000354158:K692R;ENSP00000410064:K664R	ENSP00000299183:K392R	K	+	2	0	ERC1	1162766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.281000	0.72632	2.170000	0.68504	0.460000	0.39030	AAG			0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064		G	1292505	A	G	1292505	3	3	23	1	0	0	0	0	1	0	0	0	5217	72	3	4	2113	4	ERC1	12	1292505	Missense_Mutation	SNP	A	TCGA-2G-AAG8-01A-31D-A42Y-10		1292505	132559390	41	1495											
PLEKHG6	55200	mdanderson.org	37	chr12	6437022	6437022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagggggccgaggagccccGggacagcaggccacggaagc	9	1	19	12	3	0	1	0	1	0	0	0	5	0	4	4	6	3	1	4	6	1	0			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr12:6437022G>T	ENST00000396988.3	+	15	2503	c.2273G>T	c.(2272-2274)cGg>cTg	p.R758L	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R758L|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R726L|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R288L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	758						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGGAGCCCCGGGACAGCAGG	0.662																																					p.R758L													.	.			0			c.G2273T												9	12	11					12																	6437022		2193	4280	6473	SO:0001583	missense	55200	exon15			AGCCCCGGGACAG	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.2273G>T	12.37:g.6437022G>T	ENSP00000380185:p.Arg758Leu		22	0	0		39	0.08	3	NM_001144856	130	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	3.647	-0.072297	0.07228	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.63255	0.09;0.09;-0.03	4.74	1.91	0.25777	.	0.711693	0.12674	N	0.448526	T	0.40886	0.1135	N	0.14661	0.345	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.17098	0.017;0.008	T	0.30208	-0.9986	10	0.56958	D	0.05	-0.2527	4.8245	0.13408	0.193:0.1763:0.6307:0.0	.	726;758	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	L	758;758;726;288	ENSP00000011684:R758L;ENSP00000380185:R758L;ENSP00000393194:R726L	ENSP00000011684:R758L	R	+	2	0	PLEKHG6	6307283	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.027000	0.13621	0.232000	0.21100	-0.263000	0.10527	CGG			0.662	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399031.1		NM_018173		T	6437022	G	T	6437022	3	4	23	1	0	0	0	0	1	0	0	0	12091	1116	39	1	2373	1	PLEKHG6	12	6437022	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	5144517	6437022	127414873	42	1496											
DUSP16	80824	broad.mit.edu	37	chr12	12630662	12630662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtcctctaacagcgacGgctgcacgctgggcacgctg	6	7	14	14	4	1	0	0	0	1	0	2	1	2	0	1	3	3	6	1	3	1	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr12:12630662G>T	ENST00000228862.2	-	7	1734	c.1103C>A	c.(1102-1104)cCg>cAg	p.P368Q	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	368					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P368L(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TAACAGCGACGGCTgcacgct	0.642																																					p.P368Q	Ovarian(158;443 1896 15437 36069 46477)												DUSP16,NS,carcinoma,0,1	DUSP16	64	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1103A												39	41	40					12																	12630662		2203	4300	6503	SO:0001583	missense	80824	exon7			AGCGACGGCTGCA	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1103C>A	12.37:g.12630662G>T	ENSP00000228862:p.Pro368Gln		71	0	0		130	0.02	3	NM_030640	121	0	0	Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	6.896	0.534763	0.13188	.	.	ENSG00000111266	ENST00000228862	T	0.02301	4.35	5.58	3.4	0.38934	.	0.345176	0.25726	N	0.028701	T	0.01320	0.0043	N	0.08118	0	0.22185	N	0.999307	B;B	0.34313	0.389;0.448	B;B	0.25140	0.039;0.058	T	0.50541	-0.8816	10	0.66056	D	0.02	.	9.162	0.37028	0.1283:0.0:0.7268:0.145	.	368;368	Q9BY84;Q96N49	DUS16_HUMAN;.	Q	368	ENSP00000228862:P368Q	ENSP00000228862:P368Q	P	-	2	0	DUSP16	12521929	0.911000	0.30947	0.933000	0.37362	0.119000	0.20118	0.805000	0.27112	1.335000	0.45486	0.563000	0.77884	CCG			0.642	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400311.1		NM_030640		T	12630662	G	T	12630662	3	4	23	1	0	0	0	0	1	0	0	0	4821	1116	39	1	898	1	DUSP16	12	12630662	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	6193640	12630662	121221233	43	1497											
CASC5	57082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	40933157	40933157	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagacctgatgttaagtcaAtatgtttaccgacccaagat	14	11	8	8	1	1	3	1	1	0	2	1	5	1	3	3	0	1	2	3	0	6	4			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr15:40933157A>G	ENST00000346991.5	+	15	6198	c.5808A>G	c.(5806-5808)caA>caG	p.Q1936Q	CTD-2339L15.3_ENST00000559841.1_RNA|CASC5_ENST00000399668.2_Silent_p.Q1910Q			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1936	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				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)		TGTTAAGTCAATATGTTTACC	0.363																																					p.Q1936Q													.	.			0			c.A5808G												156	148	150					15																	40933157		1815	4083	5898	SO:0001819	synonymous_variant	57082	exon15			AAGTCAATATGTT	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.5808A>G	15.37:g.40933157A>G			61	0	0		53	0.25	13	NM_170589	9	0.56	5	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.640387	0.29157	.	.	ENSG00000137812	ENST00000532406	.	.	.	4.85	-6.88	0.01665	.	.	.	.	.	T	0.62551	0.2437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66559	-0.5893	4	.	.	.	.	15.6353	0.76946	0.8727:0.0:0.1273:0.0	.	.	.	.	S	84	.	.	N	+	2	0	CASC5	38720449	0.247000	0.23920	0.937000	0.37676	0.986000	0.74619	-1.112000	0.03299	-1.191000	0.02695	-0.478000	0.04885	AAT			0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390224.2		NM_144508		G	40933157	A	G	40933157	2	3	23	1	0	0	0	0	0	0	0	1	2665	98	4	4		4	CASC5	15	40933157	Silent	SNP	A	TCGA-2G-AAG8-01A-31D-A42Y-10		40933157	61598235	44	1498											
ZNF598	90850	mdanderson.org	37	chr16	2049632	2049632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcactccgagcaggggccgGgccctccatgtgtccattaa	7	7	13	14	2	0	0	0	0	0	0	3	1	3	0	5	4	1	2	5	4	1	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr16:2049632G>T	ENST00000563630.1	-	9	1995	c.1753C>A	c.(1753-1755)Ccg>Acg	p.P585T	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.P585T|ZNF598_ENST00000431526.1_Missense_Mutation_p.P640T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	640							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCAGGGGCCGGGCCCTCCATG	0.711																																					p.P640T													ZNF598,NS,carcinoma,+1,1	ZNF598	1	1	0			c.C1918A												15	18	17					16																	2049632		1811	3993	5804	SO:0001583	missense	90850	exon11			GGGCCGGGCCCTC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1753C>A	16.37:g.2049632G>T	ENSP00000455882:p.Pro585Thr		28	0	0		16	0.19	3	NM_178167	110	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	2.156	-0.393354	0.04899	.	.	ENSG00000167962	ENST00000431526	T	0.16897	2.31	4.67	-4.09	0.03951	.	0.795844	0.11646	N	0.543311	T	0.09202	0.0227	L	0.48362	1.52	0.09310	N	1	B;B	0.17667	0.023;0.002	B;B	0.13407	0.009;0.005	T	0.41342	-0.9514	10	0.14656	T	0.56	-0.0653	0.1157	0.00060	0.287:0.1867:0.253:0.2734	.	640;632	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	T	640	ENSP00000411409:P640T	ENSP00000411409:P640T	P	-	1	0	ZNF598	1989633	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.701000	0.05075	-0.303000	0.08856	-0.181000	0.13052	CCG			0.711	ZNF598-001	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000434439.1		NM_178167		T	2049632	G	T	2049632	3	4	23	1	0	0	0	0	1	0	0	0	18051	1232	43	3	812	3	ZNF598	16	2049632	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		2049632	88305121	45	1499											
ZP2	7783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	21209141	21209141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttctccccactgctccCacttgcttttagatcagatg	7	14	5	15	0	3	2	1	0	2	2	5	2	4	2	3	0	2	2	3	0	1	4			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr16:21209141C>T	ENST00000574002.1	-	19	2523	c.2041G>A	c.(2041-2043)Ggg>Agg	p.G681R	ZP2_ENST00000219593.4_Missense_Mutation_p.G681R|ZP2_ENST00000574091.1_Missense_Mutation_p.G672R|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	681					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCACTGCTCCCACTTGCTTTT	0.478																																					p.G681R													.	.			0			c.G2041A												190	155	167					16																	21209141		2200	4300	6500	SO:0001583	missense	7783	exon18			TGCTCCCACTTGC	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2041G>A	16.37:g.21209141C>T	ENSP00000460971:p.Gly681Arg		245	0	0		239	0.15	36	NM_003460	1	0	0	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749224	0.30955	.	.	ENSG00000103310	ENST00000219593	T	0.76709	-1.04	4.26	3.31	0.37934	.	3.380490	0.00990	N	0.003506	T	0.54663	0.1872	N	0.08118	0	0.09310	N	1	P;B	0.43633	0.813;0.266	B;B	0.33454	0.164;0.071	T	0.57700	-0.7766	10	0.07175	T	0.84	15.1372	8.0549	0.30600	0.0:0.891:0.0:0.109	.	672;681	Q4VAP1;Q05996	.;ZP2_HUMAN	R	681	ENSP00000219593:G681R	ENSP00000219593:G681R	G	-	1	0	ZP2	21116642	0.012000	0.17670	0.107000	0.21349	0.233000	0.25261	0.495000	0.22483	1.387000	0.46486	0.563000	0.77884	GGG			0.478	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207365.2				T	21209141	C	T	21209141	3	4	23	1	0	0	0	0	1	0	0	0	18239	594	21	3	204	3	ZP2	16	21209141	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	19159509	21209141	69145612	46	1500											
ZNF423	23090	mdanderson.org	37	chr16	49670954	49670954	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgcaggtcatccacCgaggaaaattgcttgtcgca	9	11	10	11	2	2	0	1	0	1	0	4	2	3	1	2	2	3	4	2	2	2	3	rs143934881	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr16:49670954C>A	ENST00000561648.1	-	4	2162	c.2109G>T	c.(2107-2109)tcG>tcT	p.S703S	ZNF423_ENST00000535559.1_Silent_p.S586S|ZNF423_ENST00000562520.1_Silent_p.S643S|ZNF423_ENST00000262383.2_Silent_p.S703S|ZNF423_ENST00000562871.1_Silent_p.S643S|ZNF423_ENST00000567169.1_Silent_p.S586S|ZNF423_ENST00000563137.2_Silent_p.S643S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	703					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCATCCACCGAGGAAAATT	0.552																																					p.S703S													.	.			0			c.G2109T												99	98	98					16																	49670954		2198	4300	6498	SO:0001819	synonymous_variant	23090	exon4			ATCCACCGAGGAA	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2109G>T	16.37:g.49670954C>A			67	0	0		49	0.06	3	NM_015069	13	0	0	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																					0.552	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000423258.1		NM_015069		A	49670954	C	A	49670954	2	1	23	1	0	0	0	0	0	0	0	1	17921	639	23	1		1	ZNF423	16	49670954	Silent	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	28461813	49670954	40683799	47	1501											
KIAA0664	23277	mdanderson.org	37	chr17	2595133	2595133	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcagggccacggcctgctgGgtcaggcacttgaggtactc	6	8	15	12	1	1	1	1	1	0	0	2	1	1	1	2	5	3	4	2	5	1	2	rs149829712	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:2595133G>A	ENST00000570628.2	-	24	3699	c.3594C>T	c.(3592-3594)acC>acT	p.T1198T	CLUH_ENST00000538975.1_Silent_p.T1198T|RP11-74E22.6_ENST00000608984.1_lincRNA|CLUH_ENST00000435359.1_Silent_p.T1198T			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1198					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CGGCCTGCTGGGTCAGGCACT	0.692																																					p.T1198T													.	.			0			c.C3594T												21	23	23					17																	2595133		2050	4169	6219	SO:0001819	synonymous_variant	23277	exon24			CTGCTGGGTCAGG	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3594C>T	17.37:g.2595133G>A			21	0	0		24	0.17	4	NM_015229	324	0.17	55	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	CCDS45572.1																																																																																					0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437807.2		NM_015229		A	2595133	G	A	2595133	2	1	23	1	0	0	0	0	0	0	0	1	8204	1219	43	3		3	KIAA0664	17	2595133	Silent	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		2595133	78600077	48	1502											
USP6	9098	mdanderson.org	37	chr17	5037263	5037263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgactctccggaaccatGtcttctttagggatcgatat	9	12	10	10	3	3	0	0	0	3	0	5	5	3	3	2	3	1	0	2	3	3	4			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:5037263G>T	ENST00000574788.1	+	15	2696	c.466G>T	c.(466-468)Gtc>Ttc	p.V156F	USP6_ENST00000332776.4_Missense_Mutation_p.V156F|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V156F			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	156	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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						CCGGAACCATGTCTTCTTTAG	0.567			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																p.V156F				Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.			0			c.G466T												180	140	153					17																	5037263		2203	4300	6503	SO:0001583	missense	9098	exon7			AACCATGTCTTCT	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.466G>T	17.37:g.5037263G>T	ENSP00000460380:p.Val156Phe		55	0	0		37	0.08	3	NM_004505	3	0	0	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498411	0.44455	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.31510	1.49;1.49	0.862	-0.584	0.11702	Rab-GAP/TBC domain (4);	0.042490	0.85682	D	0.000000	T	0.25680	0.0625	L	0.38175	1.15	0.80722	D	1	D;P	0.59357	0.985;0.956	P;B	0.51866	0.682;0.414	T	0.10154	-1.0642	10	0.72032	D	0.01	.	2.6311	0.04945	0.4852:0.0:0.5148:0.0	.	156;156	B9A6N0;P35125	.;UBP6_HUMAN	F	156	ENSP00000328010:V156F;ENSP00000250066:V156F	ENSP00000250066:V156F	V	+	1	0	USP6	4977987	1.000000	0.71417	0.053000	0.19242	0.054000	0.15201	1.927000	0.40094	0.132000	0.18615	0.134000	0.15878	GTC			0.567	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438990.1		NM_004505		T	5037263	G	T	5037263	3	4	23	1	0	0	0	0	1	0	0	0	17110	1377	48	3	488	3	USP6	17	5037263	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	2442130	5037263	76157947	49	1503											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		181	0.0718232044	13		173	0.03	6	NM_145301	31	0.42	13	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2	rescued with RNA-seq	NM_145301		T	15457087	C	T	15457087	3	4	23	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	10419824	15457087	65738123	50	1504											
CDC27	996	mdanderson.org	37	chr17	45234372	45234372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttagataatatggaagttCctgttcccagtgggacagta	11	13	11	6	0	0	1	0	0	0	1	2	3	2	3	2	2	0	4	2	2	5	7			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:45234372C>T	ENST00000066544.3	-	7	842	c.749G>A	c.(748-750)gGa>gAa	p.G250E	CDC27_ENST00000531206.1_Missense_Mutation_p.G250E|CDC27_ENST00000446365.2_Missense_Mutation_p.G189E|CDC27_ENST00000527547.1_Missense_Mutation_p.G250E|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TATGGAAGTTCCTGTTCCCAG	0.383																																					p.G250E													.	.			0			c.G749A												54	59	58					17																	45234372		2195	4295	6490	SO:0001583	missense	996	exon7			GAAGTTCCTGTTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.749G>A	17.37:g.45234372C>T	ENSP00000066544:p.Gly250Glu		53	0.0188679245	1		55	0.05	3	NM_001114091	19	0	0	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012896	0.54468	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66815	-0.19;-0.23;0.08;-0.19;0.95	5.44	5.44	0.79542	.	0.058397	0.64402	D	0.000002	T	0.50531	0.1621	N	0.19112	0.55	0.50632	D	0.999885	P;B;B;B	0.34462	0.454;0.435;0.403;0.207	B;B;B;B	0.33799	0.057;0.058;0.17;0.016	T	0.49041	-0.8980	10	0.10111	T	0.7	-23.0399	16.7505	0.85484	0.0:1.0:0.0:0.0	.	189;250;250;250	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	E	250;250;189;250;250	ENSP00000066544:G250E;ENSP00000434614:G250E;ENSP00000392802:G189E;ENSP00000437339:G250E;ENSP00000432105:G250E	ENSP00000066544:G250E	G	-	2	0	CDC27	42589371	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.600000	0.67599	2.555000	0.86185	0.460000	0.39030	GGA			0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2				T	45234372	C	T	45234372	3	4	23	1	0	0	0	0	1	0	0	0	3068	855	30	3	1795	3	CDC27	17	45234372	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	29777285	45234372	35960838	51	1505											
BZRAP1	9256	mdanderson.org	37	chr17	56387455	56387455	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgtctgacaggtctGagttgcggccgtggtccacg	5	10	15	11	3	2	2	0	2	2	0	3	3	3	3	3	4	1	1	3	4	0	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:56387455G>T	ENST00000343736.4	-	21	3927	c.3764C>A	c.(3763-3765)tCa>tAa	p.S1255*	BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.S1255*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.S1195*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1255						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGACAGGTCTGAGTTGCGGCC	0.577																																					p.S1255X													.	.			0			c.C3764A												75	68	71					17																	56387455		2203	4300	6503	SO:0001587	stop_gained	9256	exon21			AGGTCTGAGTTGC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3764C>A	17.37:g.56387455G>T	ENSP00000345824:p.Ser1255*		42	0	0		32	0.09	3	NM_001261835	7	0	0	O75111|Q8N5W3	Nonsense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	44	10.849905	0.99477	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	5.94	5.94	0.96194	.	0.065144	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0825	0.86602	0.0:0.0:1.0:0.0	.	.	.	.	X	1255;1255;1195	.	ENSP00000268893:S1195X	S	-	2	0	BZRAP1	53742454	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.294000	0.65687	2.826000	0.97356	0.561000	0.74099	TCA			0.577	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000443980.1		NM_004758		T	56387455	G	T	56387455	4	4	23	1	0	0	0	0	0	1	0	0	1579	1294	45	3	1853	3	BZRAP1	17	56387455	Nonsense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	11153083	56387455	24807755	52	1506											
METTL4	64863	ucsc.edu;bcgsc.ca	37	chr18	2544256	2544256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaattaatttgtggtctGgaatggggagcacgtttaca	11	13	12	5	1	1	1	0	1	1	0	1	3	1	3	0	4	2	2	0	4	4	4			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr18:2544256G>T	ENST00000574538.1	-	8	1986	c.1211C>A	c.(1210-1212)cCa>cAa	p.P404Q	METTL4_ENST00000319888.6_Intron	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	404					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TTTGTGGTCTGGAATGGGGAG	0.353																																					p.P404Q													.	METTL4	40		0			c.C1211A												63	64	64					18																	2544256		2203	4300	6503	SO:0001583	missense	64863	exon8			TGGTCTGGAATGG		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1211C>A	18.37:g.2544256G>T	ENSP00000458290:p.Pro404Gln		61	0	0		31	0.13	4	NM_022840	11	0	0	B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374304	0.42105	.	.	ENSG00000101574	ENST00000319888	.	.	.	4.98	4.98	0.66077	.	0.128538	0.53938	D	0.000059	T	0.75280	0.3828	M	0.65320	2	0.52501	D	0.999959	D	0.89917	1.0	D	0.75484	0.986	T	0.69691	-0.5077	9	0.13853	T	0.58	-3.59	18.6101	0.91281	0.0:0.0:1.0:0.0	.	404	Q8N3J2	METL4_HUMAN	Q	404	.	ENSP00000320349:P404Q	P	-	2	0	METTL4	2534256	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.328000	0.59253	2.452000	0.82932	0.585000	0.79938	CCA			0.353	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254326.3		NM_022840		T	2544256	G	T	2544256	3	4	23	1	0	0	0	0	1	0	0	0	9518	1348	47	3	215	3	METTL4	18	2544256	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		2544256	75532992	53	1507											
MIER2	54531	mdanderson.org	37	chr19	308613	308613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgtcttgctccgggcGcggacggccggggccatcgg	3	6	19	13	6	1	0	0	0	1	0	3	1	2	1	3	7	1	1	3	7	0	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr19:308613G>T	ENST00000264819.4	-	12	1172	c.1162C>A	c.(1162-1164)Cgc>Agc	p.R388S	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	388					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)		TGCTCCGGGCGCGGACGGCCG	0.716																																					p.R388S													.	.			0			c.C1162A												17	25	22					19																	308613		2200	4292	6492	SO:0001583	missense	54531	exon12			CCGGGCGCGGACG	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.1162C>A	19.37:g.308613G>T	ENSP00000264819:p.Arg388Ser		43	0	0		32	0.09	3	NM_017550	100	0	0	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	0.304	-0.971801	0.02215	.	.	ENSG00000105556	ENST00000264819	T	0.14640	2.49	3.01	3.01	0.34805	.	3.081050	0.01903	U	0.039315	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.17433	0.018	T	0.23440	-1.0188	10	0.06365	T	0.9	-3.6704	9.6147	0.39685	0.0:0.0:1.0:0.0	.	388	Q8N344	MIER2_HUMAN	S	388	ENSP00000264819:R388S	ENSP00000264819:R388S	R	-	1	0	MIER2	259613	0.597000	0.26874	0.003000	0.11579	0.019000	0.09904	2.601000	0.46249	1.659000	0.50751	0.462000	0.41574	CGC			0.716	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451784.1		XM_041843		T	308613	G	T	308613	3	4	23	1	0	0	0	0	1	0	0	0	9597	1087	38	1	487	1	MIER2	19	308613	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		308613	58820370	54	1508											
BEST2	54831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12864150	12864150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accagtatgccagcctcatcCctgtctccttcgtgcttggt	5	13	8	15	1	2	0	1	0	1	0	5	0	3	0	5	1	3	2	5	1	1	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr19:12864150C>A	ENST00000549706.1	+	3	553	c.229C>A	c.(229-231)Cct>Act	p.P77T	BEST2_ENST00000042931.1_Missense_Mutation_p.P77T|BEST2_ENST00000553030.1_Missense_Mutation_p.P77T			Q8NFU1	BEST2_HUMAN	bestrophin 2	77					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CAGCCTCATCCCTGTCTCCTT	0.547																																					p.P77T													.	.			0			c.C229A												192	183	186					19																	12864150		2064	4208	6272	SO:0001583	missense	54831	exon2			CTCATCCCTGTCT	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.229C>A	19.37:g.12864150C>A	ENSP00000448310:p.Pro77Thr		114	0	0		92	0.15	14	NM_017682	0		0	Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947125	0.73672	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98978	-5.29;-5.29;-5.29	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000005	D	0.99474	0.9813	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98106	1.0417	10	0.87932	D	0	-29.7452	15.148	0.72674	0.0:1.0:0.0:0.0	.	77	Q8NFU1	BEST2_HUMAN	T	77	ENSP00000448310:P77T;ENSP00000447203:P77T;ENSP00000042931:P77T	ENSP00000042931:P77T	P	+	1	0	BEST2	12725150	1.000000	0.71417	0.714000	0.30535	0.853000	0.48598	7.704000	0.84595	1.944000	0.56390	0.313000	0.20887	CCT			0.547	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403343.1		NM_017682		A	12864150	C	A	12864150	3	1	23	1	0	0	0	0	1	0	0	0	1405	623	22	3	235	3	BEST2	19	12864150	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	12555537	12864150	46264833	55	1509											
GYS1	2997	mdanderson.org	37	chr19	49472837	49472837	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagggcgacggtggcaccGaggctggccgtgggtagcgg	5	4	22	10	6	0	0	0	0	0	0	0	3	0	0	2	7	1	3	2	7	1	1	rs137913986		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr19:49472837G>T	ENST00000323798.3	-	16	2118	c.1922C>A	c.(1921-1923)tCg>tAg	p.S641*	GYS1_ENST00000544287.1_Nonsense_Mutation_p.S274*|GYS1_ENST00000541188.1_Nonsense_Mutation_p.S561*|GYS1_ENST00000263276.6_Nonsense_Mutation_p.S577*	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	641					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)		CGGTGGCACCGAGGCTGGCCG	0.687																																					p.S641X													.	.			0			c.C1922A												28	16	20					19																	49472837		2033	3987	6020	SO:0001587	stop_gained	2997	exon16			GGCACCGAGGCTG		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.1922C>A	19.37:g.49472837G>T	ENSP00000317904:p.Ser641*		17	0	0		15	0.2	3	NM_002103	51	0	0	Q9BTT9	Nonsense_Mutation	SNP	ENST00000323798.3	37	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	41	8.679189	0.98912	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4832	17.7236	0.88359	0.0:0.0:1.0:0.0	.	.	.	.	X	641;577;561;274	.	ENSP00000263276:S577X	S	-	2	0	GYS1	54164649	1.000000	0.71417	0.961000	0.40146	0.978000	0.69477	9.139000	0.94554	2.854000	0.98071	0.655000	0.94253	TCG			0.687	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319791.1		NM_002103		T	49472837	G	T	49472837	4	4	23	1	0	0	0	0	0	1	0	0	6927	1059	37	1	295	1	GYS1	19	49472837	Nonsense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	36608687	49472837	9656146	56	1510											
CENPB	1059	mdanderson.org	37	chr20	3766118	3766118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagcagcatggcctggCggtagtggcccttcacctgc	5	9	13	14	1	1	1	1	1	0	0	1	1	1	1	4	4	3	3	4	4	1	3			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr20:3766118C>T	ENST00000379751.4	-	1	1219	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	338					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CATGGCCTGGCGGTAGTGGCC	0.687																																					p.R338H													.	.			0			c.G1013A												17	15	15					20																	3766118		2199	4294	6493	SO:0001583	missense	1059	exon1			GCCTGGCGGTAGT	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1013G>A	20.37:g.3766118C>T	ENSP00000369075:p.Arg338His		35	0	0		32	0.09	3	NM_001810	148	0	0	Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	17.58	3.425506	0.62733	.	.	ENSG00000125817	ENST00000379751	T	0.62232	0.04	4.04	4.04	0.47022	.	0.000000	0.37095	U	0.002246	T	0.70168	0.3193	L	0.47016	1.485	0.29426	N	0.860195	D	0.89917	1.0	D	0.91635	0.999	T	0.65965	-0.6040	10	0.87932	D	0	-7.2444	9.195	0.37222	0.2171:0.7829:0.0:0.0	.	338	P07199	CENPB_HUMAN	H	338	ENSP00000369075:R338H	ENSP00000369075:R338H	R	-	2	0	CENPB	3714118	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.522000	0.60539	1.801000	0.52704	0.457000	0.33378	CGC			0.687	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077772.2		NM_001810		T	3766118	C	T	3766118	3	4	23	1	0	0	0	0	1	0	0	0	3229	768	27	1	790	1	CENPB	20	3766118	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10		3766118	59259402	57	1511											
CEBPB	1051	mdanderson.org	37	chr20	48808402	48808402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgagtacaagatccggCgcgagcgcaacaacatcgcc	12	3	12	14	7	0	1	0	0	0	1	2	4	1	1	2	1	4	2	2	1	4	1			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr20:48808402C>T	ENST00000303004.3	+	1	1027	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	278	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 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)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CAAGATCCGGCGCGAGCGCAA	0.667																																					p.R278C													.	.			0			c.C832T												43	42	42					20																	48808402		2201	4300	6501	SO:0001583	missense	1051	exon1			ATCCGGCGCGAGC	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"basic leucine zipper proteins"	1834	protein-coding gene	gene with protein product	"liver-enriched transcriptional activator protein", "nuclear factor of interleukin 6", "interleukin 6-dependent DNA-binding protein"	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.832C>T	20.37:g.48808402C>T	ENSP00000305422:p.Arg278Cys		23	0	0		36	0.08	3	NM_005194	174	0	0	A8K671|Q96IH2|Q9H4Z5	Missense_Mutation	SNP	ENST00000303004.3	37	CCDS13429.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941192	0.73557	.	.	ENSG00000172216	ENST00000303004	T	0.71934	-0.61	3.18	3.18	0.36537	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.64402	U	0.000001	D	0.88695	0.6506	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92614	0.6102	10	0.87932	D	0	-23.022	14.4807	0.67579	0.0:1.0:0.0:0.0	.	278	P17676	CEBPB_HUMAN	C	278	ENSP00000305422:R278C	ENSP00000305422:R278C	R	+	1	0	CEBPB	48241809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.345000	0.52182	1.612000	0.50221	0.313000	0.20887	CGC			0.667	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079672.1		NM_005194		T	48808402	C	T	48808402	3	4	23	1	0	0	0	0	1	0	0	0	3202	768	27	1	834	1	CEBPB	20	48808402	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	45042284	48808402	14217118	58	1512											
HSCB	150274	mdanderson.org	37	chr22	29139966	29139966	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcagccagaggtctcaGgtagcttattggccaacccc	8	11	9	13	0	3	1	2	0	2	1	4	1	3	1	4	3	3	2	4	3	3	5			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr22:29139966G>T	ENST00000216027.3	+	2	398	c.333G>T	c.(331-333)caG>caT	p.Q111H	HSCB_ENST00000398941.2_Splice_Site_p.Q111H|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000382578.1_5'Flank|HSCB_ENST00000495977.1_3'UTR|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000544772.1_5'Flank|CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000405598.1_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	111	J.				iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						AGAGGTCTCAGGTAGCTTATT	0.507																																					p.Q111H													.	.			0			c.G333T												115	102	107					22																	29139966		2203	4300	6503	SO:0001630	splice_region_variant	150274	exon2			GTCTCAGGTAGCT	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"Heat shock proteins / DNAJ (HSP40)"	28913	protein-coding gene	gene with protein product	"DnaJ (Hsp40) homolog, subfamily C, member 20"	608142	"HscB iron-sulfur cluster co-chaperone homolog (E. coli)"			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.333+1G>T	22.37:g.29139966G>T			61	0	0		46	0.07	3	NM_172002	160	0	0	Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340979	0.81911	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.43294	0.95;0.95	5.36	5.36	0.76844	Heat shock protein DnaJ, N-terminal (4);	0.491283	0.22869	N	0.054649	T	0.56761	0.2007	M	0.67397	2.05	0.52501	D	0.999955	D	0.65815	0.995	P	0.55824	0.785	T	0.59894	-0.7368	10	0.66056	D	0.02	-14.1333	14.5896	0.68354	0.0:0.0:1.0:0.0	.	111	Q8IWL3	HSC20_HUMAN	H	111	ENSP00000216027:Q111H;ENSP00000381914:Q111H	ENSP00000216027:Q111H	Q	+	3	2	HSCB	27469966	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.859000	0.69539	2.522000	0.85027	0.491000	0.48974	CAG			0.507	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321263.1		NM_172002	Missense_Mutation	T	29139966	G	T	29139966	5	4	23	1	0	0	0	0	0	0	1	0	7389	1014	35	3	339	3	HSCB	22	29139966	Splice_Site	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10		29139966	22164600	59	1513											
PIK3IP1	113791	mdanderson.org	37	chr22	31679110	31679110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggcccataaggggggtgGtgccctcctgagggtcaact	6	8	15	12	0	1	1	1	1	0	0	2	1	2	1	4	6	2	0	4	6	2	1	rs2040533	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr22:31679110G>T	ENST00000215912.5	-	6	935	c.752C>A	c.(751-753)aCc>aAc	p.T251N	PIK3IP1_ENST00000441972.1_3'UTR|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.T172N	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	251			T -> S (in dbSNP:rs2040533). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						AAGGGGGGTGGTGCCCTCCTG	0.642																																					p.T251N													.	.			0			c.C752A												53	40	45					22																	31679110		2203	4300	6503	SO:0001583	missense	113791	exon6			GGGGTGGTGCCCT	BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.752C>A	22.37:g.31679110G>T	ENSP00000215912:p.Thr251Asn		68	0	0		57	0.04	2	NM_052880	47	0	0	B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Missense_Mutation	SNP	ENST00000215912.5	37	CCDS13893.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.860682	0.00552	.	.	ENSG00000100100	ENST00000215912;ENST00000416925;ENST00000487265	T;T	0.43688	0.94;0.94	5.67	1.32	0.21799	.	0.557605	0.22422	N	0.060270	T	0.15652	0.0377	N	0.03608	-0.345	0.44302	P	0.00282300000000002	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05835	-1.0861	9	0.48119	T	0.1	-11.371	2.2271	0.03987	0.1251:0.4863:0.1217:0.267	.	172;251	D1MEI0;Q96FE7	.;P3IP1_HUMAN	N	251;229;172	ENSP00000215912:T251N;ENSP00000441361:T172N	ENSP00000215912:T251N	T	-	2	0	PIK3IP1	30009110	0.006000	0.16342	0.473000	0.27253	0.033000	0.12548	0.236000	0.17967	0.357000	0.24183	-0.978000	0.02582	ACC			0.642	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321939.1		NM_052880		T	31679110	G	T	31679110	3	4	23	1	0	0	0	0	1	0	0	0	11934	1261	44	3	43	3	PIK3IP1	22	31679110	Missense_Mutation	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	2539144	31679110	19625456	60	1514											
RANGAP1	5905	mdanderson.org	37	chr22	41660689	41660689	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgccgccaatgcccatGccacagttgttgagcttgag	7	10	11	13	2	0	2	0	2	0	0	0	2	0	2	5	0	4	3	5	0	1	4			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr22:41660689G>T	ENST00000455915.2	-	4	1928	c.459C>A	c.(457-459)ggC>ggA	p.G153G	RANGAP1_ENST00000407260.4_Silent_p.G143G|RANGAP1_ENST00000405486.1_Silent_p.G153G|RANGAP1_ENST00000356244.3_Silent_p.G153G			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	153					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAATGCCCATGCCACAGTTGT	0.642																																					p.G153G													.	.			0			c.C459A												85	72	77					22																	41660689		2203	4300	6503	SO:0001819	synonymous_variant	5905	exon5			GCCCATGCCACAG	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.459C>A	22.37:g.41660689G>T			41	0	0		33	0.09	3	NM_002883	412	0	1	Q96JJ2	Silent	SNP	ENST00000455915.2	37	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455620	0.26161	.	.	ENSG00000100401	ENST00000446258	.	.	.	5.51	3.37	0.38596	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40346	-0.9568	4	.	.	.	-22.8325	4.1094	0.10052	0.1405:0.1239:0.6081:0.1275	.	.	.	.	N	94	.	.	H	-	1	0	RANGAP1	39990635	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.363000	0.34159	1.317000	0.45149	0.563000	0.77884	CAT			0.642	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320606.1		NM_002883		T	41660689	G	T	41660689	2	4	23	1	0	0	0	0	0	0	0	1	13056	1306	46	2		2	RANGAP1	22	41660689	Silent	SNP	G	TCGA-2G-AAG8-01A-31D-A42Y-10	9981579	41660689	9643877	61	1515											
PANX2	56666	hgsc.bcm.edu	37	chr22	50617594	50617595	+	Frame_Shift_Ins	INS	-	-	C																															cgggaggaggaggacgggggINScccccgcctgccgcaggacg																								rs376326556		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr22:50617594_50617595insC	ENST00000395842.2	+	3	1922_1923	c.1922_1923insC	c.(1921-1926)ggccccfs	p.GP641fs	PANX2_ENST00000159647.5_Intron	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	641					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)		GAGGACGGGGGCCCCCGCCTGC	0.678																																					p.G641fs													.	PANX2	69		0			c.1922_1923insC																																									SO:0001589	frameshift_variant	56666	exon3			ACGGGGGCCCCCG		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.1927dupC	22.37:g.50617599_50617599dupC	ENSP00000379183:p.Gly641fs		87	0	0		82	0.13	11	NM_052839	26	0	0	B7Z684|Q96RD5|Q9UGX8	Frame_Shift_Ins	INS	ENST00000395842.2	37	CCDS14085.2																																																																																					0.678	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075010.3		NM_052839		C	50617595	-	C	50617594	7	5	23	1	0	1	1	0	0	0	0	0	11438	1203	42	0	1932	0	PANX2	22	50617594	Frame_Shift_Ins	INS	-	TCGA-2G-AAG8-01A-31D-A42Y-10	8956905	50617594	686972	62	1516											
ZNF673	55634	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	46332341	46332341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgagcacagaatttgAttctgtaaggcaaagactcc	13	12	8	8	0	2	4	0	2	2	2	3	4	3	4	1	1	1	3	1	1	4	4			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chrX:46332341A>G	ENST00000344302.4	+	6	1041	c.410A>G	c.(409-411)gAt>gGt	p.D137G	KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000298190.6_Missense_Mutation_p.D132G|KRBOX4_ENST00000478600.1_Intron	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	137					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										ACAGAATTTGATTCTGTAAGG	0.373																																					p.D137G													.	.			0			c.A410G												76	67	70					X																	46332341		2203	4300	6503	SO:0001583	missense	55634	exon6			AATTTGATTCTGT		CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"-"	26007	protein-coding gene	gene with protein product	"hypothetical protein FLJ20344"	300585	"zinc finger protein 673", "zinc finger family member 673"	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.410A>G	X.37:g.46332341A>G	ENSP00000345797:p.Asp137Gly		147	0	0		228	0.03	7	NM_001129898	27	0	0	A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	ENST00000344302.4	37	CCDS48097.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.314940	0.01331	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00724	5.78;5.9	2.85	0.124	0.14714	.	.	.	.	.	T	0.00552	0.0018	N	0.14661	0.345	0.09310	N	1	B;B	0.25904	0.127;0.137	B;B	0.26416	0.031;0.069	T	0.47328	-0.9126	9	0.46703	T	0.11	.	2.4907	0.04609	0.4419:0.1418:0.0:0.4163	.	137;132	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	G	137;132;137	ENSP00000345797:D137G;ENSP00000298190:D132G	ENSP00000298190:D132G	D	+	2	0	ZNF673	46217285	0.000000	0.05858	0.001000	0.08648	0.421000	0.31385	0.209000	0.17435	-0.146000	0.11274	-0.485000	0.04761	GAT			0.373	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056359.2		NM_017776		G	46332341	A	G	46332341	3	3	23	1	0	0	0	0	1	0	0	0	18103	333	12	4	472	4	ZNF673	23	46332341	Missense_Mutation	SNP	A	TCGA-2G-AAG8-01A-31D-A42Y-10		46332341	108938219	63	1517											
HUWE1	10075	mdanderson.org	37	chrX	53672397	53672397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacttgcatatcagaggaagCcaataaagttgtcaaatgct	15	10	8	8	0	2	1	2	0	0	1	2	2	2	2	1	1	3	3	1	1	6	4			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chrX:53672397C>T	ENST00000342160.3	-	6	827	c.370G>A	c.(370-372)Gct>Act	p.A124T	HUWE1_ENST00000218328.8_Missense_Mutation_p.A124T|HUWE1_ENST00000262854.6_Missense_Mutation_p.A124T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	124					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						TCAGAGGAAGCCAATAAAGTT	0.408																																					p.A124T													.	.			0			c.G370A												78	62	68					X																	53672397		2203	4300	6503	SO:0001583	missense	10075	exon7			AGGAAGCCAATAA	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.370G>A	X.37:g.53672397C>T	ENSP00000340648:p.Ala124Thr		43	0	0		35	0.09	3	NM_031407	1	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711848	0.89112	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.66099	-0.09;-0.09;-0.19	5.47	5.47	0.80525	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.141454	0.45361	D	0.000372	T	0.71434	0.3339	L	0.57536	1.79	0.58432	D	0.999998	D	0.57257	0.979	P	0.54544	0.755	T	0.74156	-0.3756	10	0.59425	D	0.04	.	17.0225	0.86437	0.0:1.0:0.0:0.0	.	124	Q7Z6Z7	HUWE1_HUMAN	T	124	ENSP00000340648:A124T;ENSP00000262854:A124T;ENSP00000218328:A124T	ENSP00000218328:A124T	A	-	1	0	HUWE1	53689122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.847000	0.75404	2.282000	0.76494	0.600000	0.82982	GCT			0.408	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056766.1		XM_497119		T	53672397	C	T	53672397	3	4	23	1	0	0	0	0	1	0	0	0	7476	739	26	2	13066	2	HUWE1	23	53672397	Missense_Mutation	SNP	C	TCGA-2G-AAG8-01A-31D-A42Y-10	7340056	53672397	101598163	64	1518											
ACTRT2	140625	broad.mit.edu	37	chr1	2938392	2938392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaaattccaggctcccTcagcagaggccaaccagaag	13	5	9	14	0	1	3	1	1	0	2	3	3	3	3	5	2	2	2	5	2	3	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr1:2938392T>C	ENST00000378404.2	+	1	347	c.142T>C	c.(142-144)Tca>Cca	p.S48P		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	48						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCAGGCTCCCTCAGCAGAGGC	0.612																																					p.S48P													ACTRT2,NS,adenocarcinoma,0,1	ACTRT2	69	1	0			c.T142C												40	40	40					1																	2938392		2203	4300	6503	SO:0001583	missense	140625	exon1			GCTCCCTCAGCAG	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.142T>C	1.37:g.2938392T>C	ENSP00000367658:p.Ser48Pro		122	0.0081967213	1		127	0.02	3	NM_080431	0		0	B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	CCDS45.1	.	.	.	.	.	.	.	.	.	.	T	6.398	0.441595	0.12164	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.94613	-3.47	5.03	-0.591	0.11675	.	0.856107	0.09608	N	0.779366	D	0.87759	0.6258	L	0.31845	0.965	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.77219	-0.2668	10	0.87932	D	0	.	1.0412	0.01559	0.214:0.1664:0.1195:0.5001	.	48	Q8TDY3	ACTT2_HUMAN	P	48	ENSP00000367658:S48P	ENSP00000367658:S48P	S	+	1	0	ACTRT2	2928252	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.540000	0.06106	0.290000	0.22444	0.459000	0.35465	TCA			0.612	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001331.1		NM_080431		C	2938392	T	C	2938392	3	2	24	1	0	0	0	0	1	0	0	0	219	1551	54	4	144	4	ACTRT2	1	2938392	Missense_Mutation	SNP	T	TCGA-2G-AAG9-01A-11D-A42Y-10		2938392	246312229	1	1519											
MEGF6	1953	broad.mit.edu	37	chr1	3422702	3422702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagcggccgtagagccctgGgtcgcagaggcaggccccgt	7	4	17	13	4	0	2	0	0	0	2	1	3	0	2	4	4	2	3	4	4	2	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr1:3422702G>T	ENST00000356575.4	-	15	2114	c.1888C>A	c.(1888-1890)Cca>Aca	p.P630T	MEGF6_ENST00000294599.4_Missense_Mutation_p.P525T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	630	EGF-like 11. {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)		TAGAGCCCTGGGTCGCAGAGG	0.637																																					p.P630T	Ovarian(73;978 3658)												.	MEGF6	91		0			c.C1888A												16	25	22					1																	3422702		2013	4145	6158	SO:0001583	missense	1953	exon15			GCCCTGGGTCGCA	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.1888C>A	1.37:g.3422702G>T	ENSP00000348982:p.Pro630Thr		136	0	0		132	0.03	4	NM_001409	12	0	0	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	g	14.94	2.685311	0.47991	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.56444	0.46;0.46	3.77	2.82	0.32997	EGF-like, laminin (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.062566	0.64402	U	0.000004	T	0.70369	0.3216	M	0.85099	2.735	0.42968	D	0.994429	D;D	0.57899	0.968;0.981	D;P	0.65233	0.933;0.89	T	0.74651	-0.3594	10	0.48119	T	0.1	-15.5778	11.6893	0.51505	0.0964:0.0:0.9036:0.0	.	630;525	O75095;O75095-2	MEGF6_HUMAN;.	T	525;630	ENSP00000294599:P525T;ENSP00000348982:P630T	ENSP00000294599:P525T	P	-	1	0	MEGF6	3412562	1.000000	0.71417	0.928000	0.36995	0.720000	0.41350	3.812000	0.55628	1.815000	0.52974	0.401000	0.26515	CCA			0.637	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354866.1		NM_001409		T	3422702	G	T	3422702	3	4	24	1	0	0	0	0	1	0	0	0	9478	1232	43	3	2829	3	MEGF6	1	3422702	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	484310	3422702	245827919	2	1520											
AHDC1	27245	mdanderson.org	37	chr1	27875918	27875918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggggtccgccccagccccGctgctacccactgccactgg	5	5	12	19	2	0	0	0	0	0	0	1	1	1	0	7	3	4	2	7	3	1	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr1:27875918G>A	ENST00000247087.5	-	5	3305	c.2709C>T	c.(2707-2709)agC>agT	p.S903S	AHDC1_ENST00000374011.2_Silent_p.S903S			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	903							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)		CCCCAGCCCCGCTGCTACCCA	0.697																																					p.S903S													.	.			0			c.C2709T												19	25	23					1																	27875918		2199	4287	6486	SO:0001819	synonymous_variant	27245	exon6			AGCCCCGCTGCTA	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.2709C>T	1.37:g.27875918G>A			46	0	0		56	0.05	3	NM_001029882	49	0	0	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	CCDS30652.1																																																																																					0.697	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009523.3				A	27875918	G	A	27875918	2	1	24	1	0	0	0	0	0	0	0	1	412	1078	38	1		1	AHDC1	1	27875918	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	24453216	27875918	221374703	3	1521											
TNNI3K	100526835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	74835124	74835124	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtggatatgttttgcCgagaggtgtccattctctgc	7	14	12	8	1	1	2	0	0	1	2	3	4	2	3	2	2	2	1	2	2	1	4	rs41289190		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr1:74835124C>A	ENST00000370899.3	+	18	1862	c.1825C>A	c.(1825-1827)Cga>Aga	p.R609R	TNNI3K_ENST00000370891.2_Silent_p.R609R|FPGT-TNNI3K_ENST00000557284.2_Silent_p.R622R|TNNI3K_ENST00000326637.3_Silent_p.R508R|FPGT-TNNI3K_ENST00000370895.1_Silent_p.R609R|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.R508*(1)									TATGTTTTGCCGAGAGGTGTC	0.448																																					p.R609R													TNNI3K,NS,carcinoma,0,2	TNNI3K	0	2	1	Substitution - Nonsense(1)	kidney(1)	c.C1825A												199	174	182					1																	74835124		2203	4300	6503	SO:0001819	synonymous_variant	100526835	exon18			TTTTGCCGAGAGG			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1825C>A	1.37:g.74835124C>A			152	0	0		153	0.17	26	NM_001199327	7	0.14	1		Silent	SNP	ENST00000370899.3	37																																																																																						0.448	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding		OTTHUMT00000026438.3				A	74835124	C	A	74835124	2	1	24	1	0	0	0	0	0	0	0	1	16352	644	23	1		1	TNNI3K	1	74835124	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	46959206	74835124	174415497	4	1522											
ATP1A1	476	broad.mit.edu	37	chr1	116946529	116946529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtggttctgtgcctTcccctactctcttctcatct	3	17	6	15	0	4	0	1	0	4	0	7	0	5	0	4	2	3	1	4	2	2	5			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr1:116946529T>C	ENST00000295598.5	+	22	3227	c.2975T>C	c.(2974-2976)tTc>tCc	p.F992S	ATP1A1OS_ENST00000369492.4_RNA|ATP1A1_ENST00000369496.4_Missense_Mutation_p.F961S|ATP1A1OS_ENST00000369491.1_RNA|ATP1A1_ENST00000537345.1_Missense_Mutation_p.F992S	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	992					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)	TTCTGTGCCTTCCCCTACTCT	0.443																																					p.F992S													.	ATP1A1	87		0			c.T2975C												226	222	223					1																	116946529		2203	4300	6503	SO:0001583	missense	476	exon22			GTGCCTTCCCCTA	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.2975T>C	1.37:g.116946529T>C	ENSP00000295598:p.Phe992Ser		124	0	0		149	0.02	3	NM_000701	845	0	0	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637287	0.67130	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000369496	D;D;D	0.96073	-3.9;-3.9;-3.9	5.35	4.23	0.50019	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93291	0.7862	M	0.73962	2.25	0.80722	D	1	B;B	0.32188	0.309;0.359	B;B	0.40534	0.223;0.332	D	0.92328	0.5871	10	0.72032	D	0.01	.	10.7256	0.46066	0.0:0.0756:0.0:0.9244	.	992;992	F5H3A1;P05023	.;AT1A1_HUMAN	S	992;992;961	ENSP00000295598:F992S;ENSP00000445306:F992S;ENSP00000358508:F961S	ENSP00000295598:F992S	F	+	2	0	ATP1A1	116748052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.033000	0.88852	0.871000	0.35750	0.533000	0.62120	TTC			0.443	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000033481.5		NM_001160233		C	116946529	T	C	116946529	3	2	24	1	0	0	0	0	1	0	0	0	1128	1783	62	4	3077	4	ATP1A1	1	116946529	Missense_Mutation	SNP	T	TCGA-2G-AAG9-01A-11D-A42Y-10	42111405	116946529	132304092	5	1523											
TCHH	7062	mdanderson.org	37	chr1	152082647	152082647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcggtactgcctctcccActcctggcgccttctcttct	2	15	7	17	2	3	0	0	0	3	0	6	0	4	0	4	2	3	1	4	2	1	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr1:152082647A>G	ENST00000368804.1	-	2	3045	c.3046T>C	c.(3046-3048)Tgg>Cgg	p.W1016R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1016	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.W1016R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgcctctcccactcctggcgc	0.582																																					p.W1016R													TCHH,extremity,malignant_melanoma,0,1	TCHH	0	1	1	Substitution - Missense(1)	skin(1)	c.T3046C												98	100	99					1																	152082647		1974	4149	6123	SO:0001583	missense	7062	exon3			TCTCCCACTCCTG	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3046T>C	1.37:g.152082647A>G	ENSP00000357794:p.Trp1016Arg		100	0.06	6		114	0.08	9	NM_007113	3	0	0	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	a	1.987	-0.432633	0.04669	.	.	ENSG00000159450	ENST00000368804	T	0.03745	3.82	1.9	-0.341	0.12639	.	.	.	.	.	T	0.00328	0.0010	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38607	-0.9653	9	0.13108	T	0.6	.	2.7919	0.05390	0.17:0.0:0.3552:0.4748	.	1016	Q07283	TRHY_HUMAN	R	1016	ENSP00000357794:W1016R	ENSP00000357794:W1016R	W	-	1	0	TCHH	150349271	0.002000	0.14202	0.001000	0.08648	0.053000	0.15095	0.265000	0.18515	-0.507000	0.06549	-0.381000	0.06696	TGG			0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036671.2		NM_007113		G	152082647	A	G	152082647	3	3	24	1	0	0	0	0	1	0	0	0	15723	159	6	4	2789	4	TCHH	1	152082647	Missense_Mutation	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10	35136118	152082647	97167974	6	1524											
ASPM	259266	broad.mit.edu	37	chr1	197070295	197070295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcattcgatagaatgactGaattagtgtggcagcccggt	10	11	13	7	2	0	3	0	2	0	1	1	4	0	3	1	2	2	2	1	2	4	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr1:197070295G>T	ENST00000367409.4	-	18	8342	c.8086C>A	c.(8086-8088)Cag>Aag	p.Q2696K	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2696	IQ 29. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 30. {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						TAGAATGACTGAATTAGTGTG	0.363																																					p.Q2696K													.	ASPM	444		0			c.C8086A												51	50	50					1																	197070295		2203	4298	6501	SO:0001583	missense	259266	exon18			ATGACTGAATTAG	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.8086C>A	1.37:g.197070295G>T	ENSP00000356379:p.Gln2696Lys		133	0.007518797	1		149	0.03	5	NM_018136	53	0	0	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784962	0.70222	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	D	0.86297	-2.1	4.73	2.79	0.32731	.	0.212131	0.33309	N	0.005058	D	0.93890	0.8045	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	0.957;1.0	D;D	0.97110	0.981;1.0	D	0.93036	0.6453	10	0.87932	D	0	.	9.476	0.38871	0.0762:0.0:0.7811:0.1427	.	682;2696	E7EQ84;Q8IZT6	.;ASPM_HUMAN	K	2696;682	ENSP00000356379:Q2696K	ENSP00000356376:Q682K	Q	-	1	0	ASPM	195336918	1.000000	0.71417	0.153000	0.22517	0.861000	0.49209	2.396000	0.44468	0.489000	0.27749	0.557000	0.71058	CAG			0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000088256.1		NM_018136		T	197070295	G	T	197070295	3	4	24	1	0	0	0	0	1	0	0	0	1056	1299	45	3	2391	3	ASPM	1	197070295	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	44987648	197070295	52180326	7	1525											
IFT172	26160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27677283	27677283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcagcctcttcgaatttAccctacagggagagaaaggc	11	9	10	11	1	2	1	1	0	1	1	3	4	2	2	2	2	3	1	2	2	4	5			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr2:27677283A>G	ENST00000260570.3	-	32	3571	c.3468T>C	c.(3466-3468)ggT>ggC	p.G1156G		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1156					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTTCGAATTTACCCTACAGGG	0.517																																					p.G1156G													.	.			0			c.T3468C												112	110	111					2																	27677283		2203	4300	6503	SO:0001819	synonymous_variant	26160	exon32			GAATTTACCCTAC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3468T>C	2.37:g.27677283A>G			90	0	0		102	0.31	32	NM_015662	171	0.32	55	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	A	7.675	0.687717	0.14973	.	.	ENSG00000138002	ENST00000443889	.	.	.	5.6	-2.99	0.05497	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.2235	0.5484	0.00658	0.3233:0.2013:0.2676:0.2078	.	.	.	.	Q	25	.	.	X	-	1	0	IFT172	27530787	0.090000	0.21635	0.969000	0.41365	0.572000	0.35998	-0.704000	0.05058	-0.784000	0.04528	-2.293000	0.00265	TAA			0.517	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250213.2		NM_015662		G	27677283	A	G	27677283	2	3	24	1	0	0	0	0	0	0	0	1	7572	378	14	4		4	IFT172	2	27677283	Silent	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10		27677283	215522090	8	1526											
EPC2	26122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	149501290	149501290	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaaattaagcctttgcAatttgaaattatgattgaca	15	14	8	4	0	0	3	0	3	0	0	0	5	0	4	1	1	2	1	1	1	5	5			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr2:149501290A>T	ENST00000258484.6	+	3	447	c.413A>T	c.(412-414)cAa>cTa	p.Q138L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	138					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)		AAGCCTTTGCAATTTGAAATT	0.333																																					p.Q138L													.	.			0			c.A413T												58	57	57					2																	149501290		1822	4080	5902	SO:0001583	missense	26122	exon3			CTTTGCAATTTGA	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.413A>T	2.37:g.149501290A>T	ENSP00000258484:p.Gln138Leu		249	0	0		245	0.2	49	NM_015630	21	0.33	7	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692194	0.68271	.	.	ENSG00000135999	ENST00000457184;ENST00000258484;ENST00000397424	T;T;T	0.44482	0.92;0.92;0.92	5.17	3.99	0.46301	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	M	0.67700	2.07	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37663	-0.9696	10	0.87932	D	0	-3.2874	11.5304	0.50607	0.8656:0.0:0.0:0.1344	.	138	Q52LR7	EPC2_HUMAN	L	114;138;67	ENSP00000415543:Q114L;ENSP00000258484:Q138L;ENSP00000380569:Q67L	ENSP00000258484:Q138L	Q	+	2	0	EPC2	149217760	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.870000	0.92336	0.896000	0.36366	-0.481000	0.04817	CAA			0.333	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000332278.1		NM_015630		T	149501290	A	T	149501290	3	4	24	1	0	0	0	0	1	0	0	0	5168	130	5	5	423	5	EPC2	2	149501290	Missense_Mutation	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10	121824007	149501290	93698083	9	1527											
ATF2	1386	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	175979435	175979435	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacacaattggcctgttagaGgatggtgcctgggtgattac	9	12	13	7	0	0	2	0	1	0	1	0	3	0	3	2	4	3	1	2	4	4	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr2:175979435G>C	ENST00000264110.2	-	8	907	c.609C>G	c.(607-609)tcC>tcG	p.S203S	ATF2_ENST00000409833.1_Silent_p.S203S|ATF2_ENST00000409437.1_Intron|ATF2_ENST00000538946.1_Silent_p.S185S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000426833.3_Silent_p.S185S|ATF2_ENST00000487334.2_Silent_p.S185S|ATF2_ENST00000345739.5_Silent_p.S145S|ATF2_ENST00000392544.1_Silent_p.S203S|ATF2_ENST00000409635.1_Silent_p.S145S|ATF2_ENST00000392543.2_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	203					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	GCCTGTTAGAGGATGGTGCCT	0.383																																					p.S203S	Pancreas(17;87 705 4534 15538 30988)												.	.			0			c.C609G												247	222	231					2																	175979435		2203	4300	6503	SO:0001819	synonymous_variant	1386	exon8			GTTAGAGGATGGT	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.609C>G	2.37:g.175979435G>C			162	0	0		127	0.05	6	NM_001880	36	0.03	1	A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Silent	SNP	ENST00000264110.2	37	CCDS2262.1																																																																																					0.383	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000255562.1		NM_001880		C	175979435	G	C	175979435	2	2	24	1	0	0	0	0	0	0	0	1	1080	987	35	5		5	ATF2	2	175979435	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	26478145	175979435	67219938	10	1528											
HECW2	57520	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	197183390	197183390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagctccctccaggcTccccctccgctgccagacct	5	7	8	21	1	0	1	0	0	0	1	4	1	4	1	7	1	4	5	7	1	0	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr2:197183390T>C	ENST00000260983.3	-	9	2406	c.2224A>G	c.(2224-2226)Agc>Ggc	p.S742G	HECW2_ENST00000409111.1_Missense_Mutation_p.S386G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	742	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCCTCCAGGCTCCCCCTCCGC	0.667																																					p.S742G													.	HECW2	239		0			c.A2224G												34	35	35					2																	197183390		2203	4300	6503	SO:0001583	missense	57520	exon9			CCAGGCTCCCCCT	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2224A>G	2.37:g.197183390T>C	ENSP00000260983:p.Ser742Gly		160	0.0125	2		146	0.04	6	NM_020760	0		0	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407549	0.25378	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.36340	1.26;1.34	4.91	3.77	0.43336	.	2.196530	0.01266	N	0.009317	T	0.31199	0.0789	L	0.27053	0.805	0.33091	D	0.538002	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	10	0.42905	T	0.14	.	8.795	0.34874	0.0:0.0863:0.0:0.9137	.	742	Q9P2P5	HECW2_HUMAN	G	386;742	ENSP00000386775:S386G;ENSP00000260983:S742G	ENSP00000260983:S742G	S	-	1	0	HECW2	196891635	0.987000	0.35691	0.949000	0.38748	0.623000	0.37688	2.171000	0.42453	0.917000	0.36895	0.379000	0.24179	AGC			0.667	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335199.3		NM_020760		C	197183390	T	C	197183390	3	2	24	1	0	0	0	0	1	0	0	0	7058	1551	54	4	2578	4	HECW2	2	197183390	Missense_Mutation	SNP	T	TCGA-2G-AAG9-01A-11D-A42Y-10	21203955	197183390	46015983	11	1529											
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228882457	228882457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctgccacttcattggcaAaaagattgacagaatctggg	12	10	11	8	0	2	3	1	1	1	2	2	3	2	3	1	3	1	2	1	3	3	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr2:228882457A>G	ENST00000392056.3	-	7	3159	c.3113T>C	c.(3112-3114)tTt>tCt	p.F1038S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.F1038S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1038						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCATTGGCAAAAAGATTGAC	0.502																																					p.F1038S													.	.			0			c.T3113C												93	85	88					2																	228882457		2203	4300	6503	SO:0001583	missense	80309	exon7			TTGGCAAAAAGAT		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3113T>C	2.37:g.228882457A>G	ENSP00000375909:p.Phe1038Ser		109	0	0		122	0.31	38	NM_030623	0		0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.127465	0.56721	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.19394	2.17;2.15	6.08	4.94	0.65067	.	0.047582	0.85682	D	0.000000	T	0.27313	0.0670	N	0.19112	0.55	0.58432	D	0.999998	D;D;D	0.67145	0.985;0.959;0.996	P;P;D	0.64506	0.786;0.503;0.926	T	0.02676	-1.1125	10	0.54805	T	0.06	.	10.9655	0.47410	0.9279:0.0:0.0721:0.0	.	69;1038;1038	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	S	1038	ENSP00000375909:F1038S;ENSP00000339886:F1038S	ENSP00000339886:F1038S	F	-	2	0	SPHKAP	228590701	1.000000	0.71417	0.986000	0.45419	0.712000	0.41017	6.767000	0.74975	2.333000	0.79357	0.533000	0.62120	TTT			0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000331750.1		NM_030623		G	228882457	A	G	228882457	3	3	24	1	0	0	0	0	1	0	0	0	15071	14	1	4	2013	4	SPHKAP	2	228882457	Missense_Mutation	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10	31699067	228882457	14316916	12	1530											
OSBPL10	114884	broad.mit.edu;mdanderson.org	37	chr3	32022633	32022633	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcggctgctgctgttgctAcccccgccgccgtctgtgcc	1	10	12	18	4	1	0	0	0	1	0	1	0	1	0	5	1	6	5	5	1	1	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr3:32022633A>C	ENST00000396556.2	-	1	161	c.39T>G	c.(37-39)ggT>ggG	p.G13G	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Silent_p.G13G	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	13					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		tgctgttgctACCCCCGCCGC	0.786																																					p.G13G													.	OSBPL10	160		0			c.T39G												2	3	2					3																	32022633		779	1678	2457	SO:0001819	synonymous_variant	114884	exon1			GTTGCTACCCCCG	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.39T>G	3.37:g.32022633A>C			21	0.1904761905	4		13	0.46	6	NM_017784	0		0	B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	CCDS2651.1																																																																																					0.786	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253165.2				C	32022633	A	C	32022633	2	2	24	1	0	0	0	0	0	0	0	1	11292	378	14	4		4	OSBPL10	3	32022633	Silent	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10		32022633	165999797	13	1531											
VIPR1	7433	broad.mit.edu;mdanderson.org	37	chr3	42560718	42560718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccttacccccataggctGcagcaagatgtgggacaacc	10	7	10	14	0	0	1	0	0	0	1	0	2	0	2	4	2	5	3	4	2	4	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr3:42560718G>T	ENST00000325123.4	+	3	301	c.188G>T	c.(187-189)tGc>tTc	p.C63F	VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.C16F|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000433647.1_Missense_Mutation_p.C22F	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	63					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCATAGGCTGCAGCAAGATG	0.607																																					p.C63F													.	VIPR1	45		0			c.G188T												99	83	88					3																	42560718		2203	4300	6503	SO:0001583	missense	7433	exon3			TAGGCTGCAGCAA	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.188G>T	3.37:g.42560718G>T	ENSP00000327246:p.Cys63Phe		84	0	0		65	0.06	4	NM_004624	0		0	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347814	0.41599	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000543411;ENST00000439731;ENST00000325123	D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25	3.65	3.65	0.41850	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.98552	1.0637	10	0.87932	D	0	.	11.2116	0.48802	0.0:0.0:1.0:0.0	.	36;16;63	B4DNY6;F5H1F5;P32241	.;.;VIPR1_HUMAN	F	22;22;16;63;63	ENSP00000394950:C22F;ENSP00000415013:C22F;ENSP00000445701:C16F;ENSP00000403478:C63F;ENSP00000327246:C63F	ENSP00000327246:C63F	C	+	2	0	VIPR1	42535722	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	6.601000	0.74136	2.350000	0.79820	0.650000	0.86243	TGC			0.607	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254728.4		NM_004624		T	42560718	G	T	42560718	3	4	24	1	0	0	0	0	1	0	0	0	17193	1319	46	2	198	2	VIPR1	3	42560718	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	10538085	42560718	155461712	14	1532											
PTPN23	25930	mdanderson.org	37	chr3	47447256	47447256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagcgctgcactccatgCtgggggccatggacaagcgg	8	5	16	12	2	0	0	0	0	0	0	1	2	1	2	2	5	4	3	2	5	1	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr3:47447256C>T	ENST00000265562.4	+	5	459	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	PTPN23_ENST00000431726.1_Silent_p.L2L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	128	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCACTCCATGCTGGGGGCCAT	0.617																																					p.L128L													.	.			0			c.C382T												44	45	45					3																	47447256		2202	4300	6502	SO:0001819	synonymous_variant	25930	exon5			TCCATGCTGGGGG	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.382C>T	3.37:g.47447256C>T			59	0	0		49	0.06	3	NM_015466	30	0	0	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	CCDS2754.1																																																																																					0.617	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257492.2		NM_015466		T	47447256	C	T	47447256	2	4	24	1	0	0	0	0	0	0	0	1	12811	796	28	2		2	PTPN23	3	47447256	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	4886538	47447256	150575174	15	1533											
PTPN23	25930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	47450550	47450550	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgaccaggtccgggctGccctgcccacaccggccctc	4	6	11	20	3	0	1	0	1	0	0	2	1	1	1	6	3	2	2	6	3	0	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr3:47450550G>C	ENST00000265562.4	+	16	1692	c.1615G>C	c.(1615-1617)Gcc>Ccc	p.A539P	PTPN23_ENST00000431726.1_Missense_Mutation_p.A413P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	539					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTCCGGGCTGCCCTGCCCAC	0.667																																					p.A539P													.	.			0			c.G1615C												63	64	64					3																	47450550		2203	4300	6503	SO:0001583	missense	25930	exon16			CGGGCTGCCCTGC	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1615G>C	3.37:g.47450550G>C	ENSP00000265562:p.Ala539Pro		59	0	0		45	0.33	15	NM_015466	39	0.44	17	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582906	0.65992	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.32988	1.43	4.29	3.42	0.39159	.	0.209202	0.39909	N	0.001238	T	0.40791	0.1131	L	0.46157	1.445	0.50039	D	0.999843	D;D	0.63880	0.966;0.993	D;P	0.63877	0.919;0.867	T	0.20009	-1.0288	10	0.56958	D	0.05	-15.9176	6.9383	0.24478	0.0972:0.1775:0.7252:0.0	.	413;539	B4DST5;Q9H3S7	.;PTN23_HUMAN	P	504;539	ENSP00000265562:A539P	ENSP00000265562:A539P	A	+	1	0	PTPN23	47425554	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	5.077000	0.64419	1.022000	0.39626	0.557000	0.71058	GCC			0.667	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257492.2		NM_015466		C	47450550	G	C	47450550	3	2	24	1	0	0	0	0	1	0	0	0	12811	1319	46	5	1677	5	PTPN23	3	47450550	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	3294	47450550	150571880	16	1534											
P4HTM	54681	mdanderson.org	37	chr3	49042540	49042540	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaacacccatgacacaGgcacagccctgcactgtggg	11	4	11	15	0	0	1	0	1	0	0	0	2	0	2	3	3	3	2	3	3	1	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr3:49042540G>T	ENST00000383729.4	+	6	1444				WDR6_ENST00000415265.2_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.Q378H|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000395474.3_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)	CCATGACACAGGCACAGCCCT	0.587																																					p.Q378H													.	.			0			c.G1134T												76	65	69					3																	49042540		2203	4300	6503	SO:0001627	intron_variant	54681	exon6			GACACAGGCACAG		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+61G>T	3.37:g.49042540G>T			35	0	0		43	0.07	3	NM_177938	4	0	0	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	8.553	0.875871	0.17395	.	.	ENSG00000178467	ENST00000343546	.	.	.	3.28	-2.47	0.06442	.	1.514400	0.04971	N	0.463862	T	0.28599	0.0708	.	.	.	0.09310	N	1	B	0.25955	0.138	B	0.34931	0.192	T	0.26815	-1.0092	7	.	.	.	.	3.861	0.08996	0.5709:0.0:0.2415:0.1875	.	378	Q9NXG6-3	.	H	378	.	.	Q	+	3	2	P4HTM	49017544	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.669000	0.25142	-0.594000	0.05836	-0.768000	0.03414	CAG			0.587	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157211.1		NM_177938		T	49042540	G	T	49042540	1	4	24	0	1	0	0	0	0	0	0	0	11377	991	35	3		3	P4HTM	3	49042540	Intron	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	1591990	49042540	148979890	17	1535											
MST1	327	hgsc.bcm.edu;broad.mit.edu	37	chr3	49723603	49723603	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagccgtcggggttccGgcagaagttctcccgaaggt	6	9	14	12	4	2	2	0	1	2	1	5	3	3	2	3	4	1	3	3	4	2	2	rs199969873	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R347W	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	8e-04	0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001				p.R347W													MST1,NS,carcinoma,0,5	MST1	0	5	5	Substitution - Missense(5)	endometrium(4)|skin(1)	c.C1039T																																									SO:0001628	intergenic_variant	4485	exon9			GGTTCCGGCAGAA	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A			51	0.0392156863	2		37	0.16	6	NM_020998	19	0	0	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG	0.005		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346415.2				A	49723603	G	A	49723603	1	1	24	0	1	0	0	0	0	0	0	0	9906	1115	39	1		1	MST1	3	49723603	IGR	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	681063	49723603	148298827	18	1536											
CLSTN2	64084	mdanderson.org	37	chr3	140282817	140282817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtggtcccaagcattGccacagtggtcatcatcatc	9	11	8	13	0	3	0	3	0	0	0	6	0	5	0	3	2	2	1	3	2	1	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr3:140282817G>T	ENST00000458420.3	+	16	2687	c.2497G>T	c.(2497-2499)Gcc>Tcc	p.A833S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	833					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						CCCAAGCATTGCCACAGTGGT	0.522										HNSCC(16;0.037)																											p.A833S	GBM(45;858 913 3709 36904 37282)												.	.			0			c.G2497T												311	273	286					3																	140282817		2203	4300	6503	SO:0001583	missense	64084	exon16			AGCATTGCCACAG	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.2497G>T	3.37:g.140282817G>T	ENSP00000402460:p.Ala833Ser		95	0	0		78	0.06	5	NM_022131	0		0	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423795	0.62733	.	.	ENSG00000158258	ENST00000458420	T	0.38240	1.15	5.62	5.62	0.85841	.	0.048813	0.85682	D	0.000000	T	0.37865	0.1019	M	0.71581	2.175	0.58432	D	0.999999	P	0.48503	0.911	B	0.36766	0.232	T	0.39099	-0.9630	9	.	.	.	-8.0607	17.1533	0.86783	0.0:0.0:1.0:0.0	.	833	Q9H4D0	CSTN2_HUMAN	S	833	ENSP00000402460:A833S	.	A	+	1	0	CLSTN2	141765507	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	8.061000	0.89467	2.647000	0.89833	0.650000	0.86243	GCC			0.522	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359393.3		NM_022131		T	140282817	G	T	140282817	3	4	24	1	0	0	0	0	1	0	0	0	3564	1319	46	2	2559	2	CLSTN2	3	140282817	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	90559214	140282817	57739613	19	1537											
D4S234E	27065	broad.mit.edu	37	chr4	4393208	4393208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctggataaggtggtcGtgaaaactaagaccgagtat	12	11	12	6	2	0	2	0	1	0	1	2	4	1	3	2	3	1	2	2	3	5	4	rs149457560	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr4:4393208G>A	ENST00000421177.2	+	7	2127	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	NSG1_ENST00000506380.1_Missense_Mutation_p.V46M|NSG1_ENST00000397958.1_Missense_Mutation_p.V46M|NSG1_ENST00000504171.1_Intron|NSG1_ENST00000505246.1_Missense_Mutation_p.V46M|NSG1_ENST00000513555.1_Missense_Mutation_p.V46M|NSG1_ENST00000433139.2_Missense_Mutation_p.V46M			P42857	NSG1_HUMAN		46					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TAAGGTGGTCGTGAAAACTAA	0.493													G|||	2	0.000399361	0	0	5008	,	,		21632	0		0.002	False		,,,				2504	0				p.V46M													.	.			0			c.G136A							G	MET/VAL,MET/VAL	0,4406		0,0,2203	133	116	122		136,136	4.8	0.9	4	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	D4S234E	NM_001040101.1,NM_014392.3	21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	46/186,46/186	4393208	2,13004	2203	4300	6503	SO:0001583	missense	0	exon3			GTGGTCGTGAAAA																												ENST00000421177.2:c.136G>A	4.37:g.4393208G>A	ENSP00000388823:p.Val46Met		109	0	0		69	0.04	3	NM_014392	65	0	0	B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	CCDS3376.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	26.0	4.694235	0.88735	0.0	2.33E-4	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139	.	.	.	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000003	T	0.78419	0.4280	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81267	-0.1010	9	0.87932	D	0	-13.4932	18.2363	0.89950	0.0:0.0:1.0:0.0	.	46	P42857	NSG1_HUMAN	M	46	.	ENSP00000381049:V46M	V	+	1	0	AC110814.1	4444109	1.000000	0.71417	0.933000	0.37362	0.938000	0.57974	8.283000	0.89909	2.372000	0.80975	0.563000	0.77884	GTG			0.493	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246799.1				A	4393208	G	A	4393208	3	1	24	1	0	0	0	0	1	0	0	0	4216	1145	40	1	142	1	D4S234E	4	4393208	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10		4393208	186761068	20	1538											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599321	55599321	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttggtctagccagagAcatcaagaatgattctaatt	13	14	8	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	6	rs121913507		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr4:55599321A>T	ENST00000288135.5	+	17	2544	c.2447A>T	c.(2446-2448)gAc>gTc	p.D816V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816V(758)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCAGAGACATCAAGAAT	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816V			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,+1,932	KIT	1	932	770	Substitution - Missense(769)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(745)|testis(16)|ovary(5)|skin(2)|soft_tissue(1)|genital_tract(1)	c.A2447T	GRCh37	CM952169	KIT	M	rs121913507							145	146	145					4																	55599321		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	CCAGAGACATCAA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2447A>T	4.37:g.55599321A>T	ENSP00000288135:p.Asp816Val		93	0	0		65	0.15	10	NM_000222	103	0.51	53	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831107	0.91036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83591	-1.74;-1.74	5.62	5.62	0.85841	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	0.000011	D	0.85093	0.5618	N	0.21097	0.63	0.80722	A	1	D;D	0.71674	0.998;0.991	D;D	0.68943	0.961;0.933	D	0.88419	0.3027	9	0.87932	D	0	.	15.8126	0.78576	1.0:0.0:0.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	V	816;812	ENSP00000288135:D816V;ENSP00000390987:D812V	ENSP00000288135:D816V	D	+	2	0	KIT	55294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.148000	0.66965	0.477000	0.44152	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55599321	A	T	55599321	3	4	24	1	0	0	0	0	1	0	0	0	8344	275	10	5	2513	5	KIT	4	55599321	Missense_Mutation	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10	51206113	55599321	135554955	21	1539											
CLPTM1L	81037	hgsc.bcm.edu;mdanderson.org	37	chr5	1341803	1341803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgtatcagactcccCggtgagcaggttgatttctt	7	13	10	11	1	2	3	1	2	1	1	3	3	3	3	3	2	1	3	3	2	1	4	rs200467747		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr5:1341803C>T	ENST00000320895.5	-	3	693	c.436G>A	c.(436-438)Ggg>Agg	p.G146R	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.G13R|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.G146R	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	146					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TCAGACTCCCCGGTGAGCAGG	0.582																																					p.G146R													.	.			0			c.G436A							C	ARG/GLY	0,4406		0,0,2203	114	104	107		436	4.2	0	5		107	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CLPTM1L	NM_030782.3	125	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	146/539	1341803	3,13003	2203	4300	6503	SO:0001583	missense	81037	exon3			ACTCCCCGGTGAG	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.436G>A	5.37:g.1341803C>T	ENSP00000313854:p.Gly146Arg		101	0	0		77	0.05	4	NM_030782	203	0	0	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910609	0.33721	0.0	3.49E-4	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.49720	0.85;0.84;0.77	5.03	4.15	0.48705	.	0.205211	0.52532	D	0.000070	T	0.42314	0.1197	L	0.52011	1.625	0.53005	D	0.999961	B;B	0.32425	0.371;0.143	B;B	0.28553	0.091;0.017	T	0.38714	-0.9648	10	0.46703	T	0.11	-22.5501	15.0542	0.71901	0.1433:0.8567:0.0:0.0	.	146;13	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	R	146;13;146	ENSP00000313854:G146R;ENSP00000423321:G13R;ENSP00000315196:G146R	ENSP00000313854:G146R	G	-	1	0	CLPTM1L	1394803	0.998000	0.40836	0.003000	0.11579	0.012000	0.07955	4.372000	0.59530	1.220000	0.43490	-0.181000	0.13052	GGG			0.582	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253649.2		NM_030782		T	1341803	C	T	1341803	3	4	24	1	0	0	0	0	1	0	0	0	3557	652	23	1	1240	1	CLPTM1L	5	1341803	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10		1341803	179573457	22	1540											
DNAJC18	202052	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	138755762	138755762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgttgtttctccttccaaCaactagtctggatataatca	10	17	5	9	0	3	0	1	0	2	0	5	1	4	1	2	1	2	2	2	1	5	7			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr5:138755762C>T	ENST00000302060.5	-	7	1012	c.932G>A	c.(931-933)tGt>tAt	p.C311Y		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	311						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCTTCCAACAACTAGTCTG	0.453																																					p.C311Y													.	.			0			c.G932A												146	136	139					5																	138755762		2203	4300	6503	SO:0001583	missense	202052	exon7			TTCCAACAACTAG	AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"Heat shock proteins / DNAJ (HSP40)"	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.932G>A	5.37:g.138755762C>T	ENSP00000302843:p.Cys311Tyr		151	0	0		176	0.19	34	NM_152686	40	0.3	12		Missense_Mutation	SNP	ENST00000302060.5	37	CCDS4214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.027203|3.027203	0.54683|0.54683	.|.	.|.	ENSG00000170464|ENSG00000170464	ENST00000302060;ENST00000508445|ENST00000514052	T;T|.	0.68765|.	-0.35;-0.35|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Domain of unknown function DUF1977, DnaJ-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84790|0.84790	0.5550|0.5550	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	D|D	0.87150|0.87150	0.2208|0.2208	10|5	0.87932|.	D|.	0|.	-12.702|-12.702	18.1041|18.1041	0.89515|0.89515	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	311|.	Q9H819|.	DJC18_HUMAN|.	Y|I	311;144|103	ENSP00000302843:C311Y;ENSP00000426338:C144Y|.	ENSP00000302843:C311Y|.	C|V	-|-	2|1	0|0	DNAJC18|DNAJC18	138783661|138783661	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.100000|0.100000	0.18952|0.18952	7.429000|7.429000	0.80309|0.80309	2.623000|2.623000	0.88846|0.88846	0.561000|0.561000	0.74099|0.74099	TGT|GTT			0.453	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374191.1		NM_152686		T	138755762	C	T	138755762	3	4	24	1	0	0	0	0	1	0	0	0	4642	478	17	3	152	3	DNAJC18	5	138755762	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	137413959	138755762	42159498	23	1541											
PCDHB7	56129	hgsc.bcm.edu;broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	5	7	16	13	6	0	0	0	0	0	0	2	3	1	0	2	3	2	3	2	3	1	3	rs374392843		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	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)	p.A526A(1)		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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0	0	5008	,	,		16269	0		0.001	False		,,,				2504	0				p.A526A													PCDHB7,NS,carcinoma,0,4	PCDHB7	0	4	1	Substitution - coding silent(1)	lung(1)	c.G1578T												62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			GCAGGCGTTCGAG	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.1578G>T	5.37:g.140553994G>T			52	0.0192307692	1		71	0.04	3	NM_018940	0		0	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																					0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251803.2		NM_018940		T	140553994	G	T	140553994	2	4	24	1	0	0	0	0	0	0	0	1	11564	1132	40	1		1	PCDHB7	5	140553994	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	1798232	140553994	40361266	24	1542											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811892	140811892	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgagctccttcgactaCgagcagttccgagacttgca	8	9	11	13	4	0	2	0	1	0	1	3	5	2	2	2	0	4	5	2	0	1	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr5:140811892C>A	ENST00000252085.3	+	1	1708	c.1566C>A	c.(1564-1566)taC>taA	p.Y522*	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	522	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)			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)			CCTTCGACTACGAGCAGTTCC	0.582																																					p.Y522X													.	PCDHGA12	271		0			c.C1566A												131	143	139					5																	140811892		2203	4300	6503	SO:0001587	stop_gained	0	exon1			CGACTACGAGCAG	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.1566C>A	5.37:g.140811892C>A	ENSP00000252085:p.Tyr522*		82	0	0		89	0.03	3	NM_032094	1	0	0	O15100|Q6UW70|Q9Y5D7	Nonsense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.189423	0.57909	.	.	ENSG00000253159	ENST00000252085	.	.	.	5.23	-6.7	0.01766	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6254	0.68616	0.0:0.4189:0.0:0.5811	.	.	.	.	X	522	.	ENSP00000252085:Y522X	Y	+	3	2	PCDHGA12	140792076	0.006000	0.16342	0.712000	0.30502	0.087000	0.18053	-1.309000	0.02728	-1.552000	0.01704	-0.215000	0.12644	TAC			0.582	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251806.2		NM_003735		A	140811892	C	A	140811892	4	1	24	1	0	0	0	0	0	1	0	0	11570	547	19	1	1568	1	PCDHGA12	5	140811892	Nonsense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	257898	140811892	40103368	25	1543											
NHP2	55651	broad.mit.edu	37	chr5	177576723	177576723	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accggagcccctcataggggTaggggcagggactgcacctc	8	5	15	13	1	1	0	1	0	0	0	2	2	1	2	4	6	2	3	4	6	2	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr5:177576723T>G	ENST00000274606.3	-	4	602	c.453A>C	c.(451-453)ctA>ctC	p.L151L	RMND5B_ENST00000515098.1_3'UTR|NHP2_ENST00000314397.4_3'UTR	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	151					rRNA pseudouridine synthesis (GO:0031118)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|kidney(1)|ovary(2)	4						CTCATAGGGGTAGGGGCAGGG	0.637																																					p.L151L													.	NHP2	12		0			c.A453C												36	38	37					5																	177576723		2203	4300	6503	SO:0001819	synonymous_variant	55651	exon4			TAGGGGTAGGGGC	AF161404	CCDS4432.1, CCDS34308.1	5q35.3	2014-09-17	2012-12-10	2008-10-13	ENSG00000145912	ENSG00000145912			14377	protein-coding gene	gene with protein product		606470	"nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)", "NHP2 ribonucleoprotein homolog (yeast)"	NOLA2		11074001	Standard	NM_017838		Approved	FLJ20479	uc003mir.2	Q9NX24	OTTHUMG00000130886	ENST00000274606.3:c.453A>C	5.37:g.177576723T>G			267	0.0861423221	23		273	0.08	23	NM_017838	488	0.02	10	A6NKY8|Q9P095	Silent	SNP	ENST00000274606.3	37	CCDS4432.1																																																																																					0.637	NHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253471.1		NM_017838		G	177576723	T	G	177576723	2	3	24	1	0	0	0	0	0	0	0	1	10426	1625	57	4		4	NHP2	5	177576723	Silent	SNP	T	TCGA-2G-AAG9-01A-11D-A42Y-10	36764831	177576723	3338537	26	1544											
ICK	22858	broad.mit.edu	37	chr6	52876923	52876923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccaagtcatccaagtcagCccaatcatctgaatcctttg	12	11	5	13	0	4	1	3	1	1	0	7	1	7	1	4	0	1	0	4	0	4	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr6:52876923C>T	ENST00000350082.5	-	10	1601	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	ICK_ENST00000356971.3_Missense_Mutation_p.A419T	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	419					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TCCAAGTCAGCCCAATCATCT	0.463																																					p.A419T													.	ICK	62		0			c.G1255A												170	139	150					6																	52876923		2203	4300	6503	SO:0001583	missense	22858	exon11			AGTCAGCCCAATC	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1255G>A	6.37:g.52876923C>T	ENSP00000263043:p.Ala419Thr		94	0.0106382979	1		86	0.03	3	NM_016513	11	0	0	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434060	0.62955	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.72051	-0.62;-0.62	5.66	3.89	0.44902	.	0.106801	0.64402	N	0.000008	T	0.46288	0.1385	L	0.40543	1.245	0.40746	D	0.982871	B	0.02656	0.0	B	0.04013	0.001	T	0.48328	-0.9045	10	0.59425	D	0.04	-17.744	12.1128	0.53848	0.0:0.8616:0.0:0.1384	.	419	Q9UPZ9	ICK_HUMAN	T	419	ENSP00000263043:A419T;ENSP00000349458:A419T	ENSP00000263043:A419T	A	-	1	0	ICK	52984882	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.249000	0.58766	0.751000	0.32900	0.561000	0.74099	GCT			0.463	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040952.1		NM_016513		T	52876923	C	T	52876923	3	4	24	1	0	0	0	0	1	0	0	0	7499	739	26	2	663	2	ICK	6	52876923	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10		52876923	118238144	27	1545											
RIMS1	22999	mdanderson.org	37	chr6	72975733	72975733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaccagatactagtttgCattcaccagaacgagaaagg	15	8	10	8	1	1	4	1	1	0	4	1	6	1	4	2	1	3	2	2	1	4	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr6:72975733C>T	ENST00000521978.1	+	22	3379	c.3379C>T	c.(3379-3381)Cat>Tat	p.H1127Y	RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000518273.1_Missense_Mutation_p.H1063Y|RIMS1_ENST00000491071.2_Missense_Mutation_p.H1063Y|RIMS1_ENST00000425662.2_Missense_Mutation_p.H456Y|RIMS1_ENST00000520567.1_Missense_Mutation_p.H1062Y|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.H1089Y|RIMS1_ENST00000517827.1_Missense_Mutation_p.H522Y|RIMS1_ENST00000401910.3_Missense_Mutation_p.H536Y|RIMS1_ENST00000523963.1_Missense_Mutation_p.H537Y	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1127					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)				TACTAGTTTGCATTCACCAGA	0.398																																					p.H1127Y													.	.			0			c.C3379T												51	46	48					6																	72975733		1854	4093	5947	SO:0001583	missense	22999	exon22			AGTTTGCATTCAC	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.3379C>T	6.37:g.72975733C>T	ENSP00000428417:p.His1127Tyr		45	0	0		52	0.06	3	NM_014989	0		0	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	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103633	0.08731	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000349908;ENST00000264839;ENST00000518273;ENST00000520567;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420	T;T;T;T;T;T;T;T;T;T	0.18338	2.49;2.49;2.6;2.58;2.48;2.65;2.56;2.57;2.57;2.22	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000017	T	0.16342	0.0393	L	0.32530	0.975	0.80722	D	1	B;P;B;P;B;B;D;P;D	0.57257	0.006;0.666;0.026;0.828;0.015;0.118;0.979;0.936;0.958	B;B;B;B;B;B;P;P;D	0.66351	0.004;0.196;0.027;0.216;0.002;0.082;0.627;0.885;0.943	T	0.00870	-1.1533	10	0.02654	T	1	-21.9917	20.0558	0.97650	0.0:1.0:0.0:0.0	.	522;537;522;536;315;1063;316;1063;1127	B7Z3S3;E9PHF5;B7Z9Z3;E9PF48;Q5JY22;E7ERQ1;Q5JY21;C9JNW6;Q86UR5	.;.;.;.;.;.;.;.;RIMS1_HUMAN	Y	1063;1089;1063;1063;1089;1063;1062;1127;536;537;456;522;288	ENSP00000430101:H1063Y;ENSP00000264839:H1089Y;ENSP00000430408:H1063Y;ENSP00000430502:H1062Y;ENSP00000428417:H1127Y;ENSP00000385649:H536Y;ENSP00000428328:H537Y;ENSP00000411235:H456Y;ENSP00000428367:H522Y;ENSP00000359448:H288Y	ENSP00000264839:H1089Y	H	+	1	0	RIMS1	73032454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.272000	0.58908	2.742000	0.94016	0.637000	0.83480	CAT			0.398	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374968.1				T	72975733	C	T	72975733	3	4	24	1	0	0	0	0	1	0	0	0	13390	710	25	2	3628	2	RIMS1	6	72975733	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	20098810	72975733	98139334	28	1546											
HSF2	3298	mdanderson.org	37	chr6	122720904	122720904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaagcagagttcgaacgtgCcggctttcctcagcaagctg	9	9	12	11	3	1	2	1	1	0	1	3	3	2	2	2	1	5	5	2	1	3	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr6:122720904C>T	ENST00000368455.4	+	1	214	c.22C>T	c.(22-24)Ccg>Tcg	p.P8S	HSF2_ENST00000452194.1_Missense_Mutation_p.P8S	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	8					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TTCGAACGTGCCGGCTTTCCT	0.607																																					p.P8S													.	.			0			c.C22T												66	64	65					6																	122720904		2203	4300	6503	SO:0001583	missense	3298	exon1			AACGTGCCGGCTT	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.22C>T	6.37:g.122720904C>T	ENSP00000357440:p.Pro8Ser		57	0	0		45	0.07	3	NM_001135564	35	0	0	B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705343	0.89018	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	D;D	0.90197	-2.63;-2.63	4.18	4.18	0.49190	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93752	0.8003	M	0.76002	2.32	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.989;0.975;0.942	D	0.94307	0.7542	10	0.72032	D	0.01	-5.4693	14.3443	0.66649	0.0:1.0:0.0:0.0	.	8;8;8	Q03933-2;Q03933;Q9BS48	.;HSF2_HUMAN;.	S	8	ENSP00000357440:P8S;ENSP00000400380:P8S	ENSP00000357440:P8S	P	+	1	0	HSF2	122762603	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.281000	0.65609	2.288000	0.76882	0.561000	0.74099	CCG			0.607	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043520.1		NM_004506		T	122720904	C	T	122720904	3	4	24	1	0	0	0	0	1	0	0	0	7411	739	26	2	24	2	HSF2	6	122720904	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	49745171	122720904	48394163	29	1547											
FSCN1	6624	broad.mit.edu	37	chr7	5645080	5645080	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcggcggaaaccgtggAccccgcctcgctctgggagt	5	6	15	15	5	1	0	0	0	1	0	3	3	1	3	5	5	1	1	5	5	1	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr7:5645080A>C	ENST00000382361.3	+	5	1571	c.1457A>C	c.(1456-1458)gAc>gCc	p.D486A	FSCN1_ENST00000340250.6_Missense_Mutation_p.D465A	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	486					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GAAACCGTGGACCCCGCCTCG	0.672																																					p.D486A													FSCN1,NS,carcinoma,+1,1	FSCN1	29	1	0			c.A1457C												30	28	29					7																	5645080		2193	4297	6490	SO:0001583	missense	6624	exon5			CCGTGGACCCCGC	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1457A>C	7.37:g.5645080A>C	ENSP00000371798:p.Asp486Ala		81	0.2098765432	17		100	0.25	25	NM_003088	252	0	0	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	A	7.606	0.673772	0.14841	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000535097	T;T	0.44083	0.93;0.93	3.83	3.83	0.44106	Fascin domain (1);Actin cross-linking (1);	0.190166	0.44285	D	0.000475	T	0.29783	0.0744	N	0.21282	0.65	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.14448	-1.0472	10	0.87932	D	0	-2.5801	12.0646	0.53580	1.0:0.0:0.0:0.0	.	486	Q16658	FSCN1_HUMAN	A	465;486;208	ENSP00000339729:D465A;ENSP00000371798:D486A	ENSP00000339729:D465A	D	+	2	0	FSCN1	5611606	1.000000	0.71417	0.914000	0.36105	0.400000	0.30750	5.696000	0.68287	1.495000	0.48549	0.454000	0.30748	GAC			0.672	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207153.3		NM_003088		C	5645080	A	C	5645080	3	2	24	1	0	0	0	0	1	0	0	0	6080	275	10	4	1475	4	FSCN1	7	5645080	Missense_Mutation	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10		5645080	153493583	30	1548											
ISPD	729920	hgsc.bcm.edu	37	chr7	16415788	16415788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgctctgtgtctggcacGttctagcgagtagtctaagc	7	13	11	10	2	4	0	0	0	4	0	4	1	4	0	0	1	3	4	0	1	3	5	rs376411072		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr7:16415788G>T	ENST00000407010.2	-	3	612	c.613C>A	c.(613-615)Cgt>Agt	p.R205S	ISPD_ENST00000399310.3_Intron	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	205		Positions substrate for the nucleophilic attack. {ECO:0000250}.			axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)	p.R205C(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TGTCTGGCACGTTCTAGCGAG	0.443										Multiple Myeloma(15;0.18)																											p.R205S													ISPD_ENST00000407010,NS,carcinoma,0,2	ISPD_ENST00000407010	0	2	2	Substitution - Missense(2)	large_intestine(2)	c.C613A												71	69	70					7																	16415788		1940	4137	6077	SO:0001583	missense	729920	exon3			TGGCACGTTCTAG	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.613C>A	7.37:g.16415788G>T	ENSP00000385478:p.Arg205Ser		83	0	0		113	0.04	5	NM_001101426	13	0	0	A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37		.	.	.	.	.	.	.	.	.	.	G	22.3	4.276050	0.80580	.	.	ENSG00000214960	ENST00000407010	D	0.93076	-3.16	5.38	4.44	0.53790	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.000000	0.64402	U	0.000001	D	0.96200	0.8761	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96356	0.9262	10	0.87932	D	0	-18.2665	15.2	0.73130	0.0:0.0:0.8586:0.1414	.	205	A4D126	ISPD_HUMAN	S	205	ENSP00000385478:R205S	ENSP00000385478:R205S	R	-	1	0	ISPD	16382313	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	3.504000	0.53347	2.669000	0.90835	0.650000	0.86243	CGT			0.443	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000326252.4		NM_001101426		T	16415788	G	T	16415788	3	4	24	1	0	0	0	0	1	0	0	0	7879	1145	40	1	774	1	ISPD	7	16415788	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	10770708	16415788	142722875	31	1549											
FZD9	8326	broad.mit.edu	37	chr7	72849813	72849813	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggccgcggggcccggAggccggagggactgctcgct	4	3	20	14	6	0	0	0	0	0	0	1	3	0	3	3	7	2	3	3	7	0	0	rs200330017		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr7:72849813A>G	ENST00000344575.3	+	1	1705	c.1476A>G	c.(1474-1476)ggA>ggG	p.G492G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	492					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGGGGCCCGGAGGCCGGAGGG	0.652																																					p.G492G	Pancreas(144;909 1878 36867 38226 39554)												FZD9,NS,carcinoma,+2,1	FZD9	51	1	0			c.A1476G												28	32	31					7																	72849813		2199	4298	6497	SO:0001819	synonymous_variant	8326	exon1			GCCCGGAGGCCGG	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1476A>G	7.37:g.72849813A>G			74	0.0675675676	5		108	0.14	15	NM_003508	3	0	0		Silent	SNP	ENST00000344575.3	37	CCDS5548.1																																																																																					0.652	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252120.1				G	72849813	A	G	72849813	2	3	24	1	0	0	0	0	0	0	0	1	6150	291	11	4		4	FZD9	7	72849813	Silent	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10	56434025	72849813	86288850	32	1550											
KRBA1	84626	broad.mit.edu	37	chr7	149430561	149430561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgaatcggctggggAggcgcccccaaggccctggg	6	4	17	14	2	0	1	0	1	0	0	1	2	0	2	4	7	0	1	4	7	2	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr7:149430561A>G	ENST00000485033.2	+	15	2335	c.2335A>G	c.(2335-2337)Agg>Ggg	p.R779G	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.R839G|KRBA1_ENST00000319551.8_Missense_Mutation_p.R779G			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	840	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCGGCTGGGGAGGCGCCCCCA	0.682																																					.													.	KRBA1	68		0			.												6	8	7					7																	149430561		1959	4113	6072	SO:0001583	missense	84626	.			CTGGGGAGGCGCC	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2335A>G	7.37:g.149430561A>G	ENSP00000420112:p.Arg779Gly		47	0.0425531915	2		61	0.16	10	.	37	0.03	1	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37		.	.	.	.	.	.	.	.	.	.	A	12.36	1.914005	0.33815	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.43688	0.96;0.94;0.94	5.13	1.68	0.24146	.	0.152767	0.30901	N	0.008643	T	0.57755	0.2075	.	.	.	0.09310	N	0.999999	D;D	0.63046	0.992;0.992	P;P	0.62740	0.906;0.906	T	0.54417	-0.8297	9	0.59425	D	0.04	-19.7927	12.4425	0.55634	0.2897:0.7103:0.0:0.0	.	779;840	E7ENE9;A5PL33	.;KRBA1_HUMAN	G	839;779;779	ENSP00000255992:R839G;ENSP00000317165:R779G;ENSP00000420112:R779G	ENSP00000255992:R839G	R	+	1	2	KRBA1	149061494	0.993000	0.37304	0.106000	0.21319	0.300000	0.27592	0.270000	0.18607	-0.010000	0.14271	0.383000	0.25322	AGG			0.682	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000349841.3		NM_032534		G	149430561	A	G	149430561	3	3	24	1	0	0	0	0	1	0	0	0	8454	295	11	4	2579	4	KRBA1	7	149430561	Missense_Mutation	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10	76580748	149430561	9708102	33	1551											
WRN	7486	broad.mit.edu	37	chr8	30945390	30945390	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctactaaagaagaagaagaAgatgatgaaaatgaagctaa	22	6	9	4	0	0	8	0	3	0	5	0	8	0	8	1	0	2	1	1	0	11	3	rs149565907	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr8:30945390A>T	ENST00000298139.5	+	12	1779	c.1530A>T	c.(1528-1530)gaA>gaT	p.E510D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				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)		aagaagaagaagatgatgaaa	0.373			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A|||	19	0.00379393	0	0	5008	,	,		18765	0.0169		0	False		,,,				2504	0.002				p.E510D	Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	WRN,NS,carcinoma,0,1	WRN	116	1	0			c.A1530T							A	ASP/GLU	0,4406		0,0,2203	76	72	73		1530		0.9	8	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense	WRN	NM_000553.4	45	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	510/1433	30945390	1,13005	2203	4300	6503	SO:0001583	missense	7486	exon12	Familial Cancer Database	WS, Adult Progeria	AGAAGAAGATGAT		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.1530A>T	8.37:g.30945390A>T	ENSP00000298139:p.Glu510Asp		65	0	0		70	0.04	3	NM_000553	12	0	0	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	A	0.001	-3.733300	0.00005	0.0	1.16E-4	ENSG00000165392	ENST00000298139	T	0.43688	0.94	.	.	.	.	0.540108	0.15136	N	0.278577	T	0.05044	0.0135	N	0.00621	-1.32	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	8	0.02654	T	1	-5.6664	.	.	.	.	510	Q14191	WRN_HUMAN	D	510	ENSP00000298139:E510D	ENSP00000298139:E510D	E	+	3	2	WRN	31064932	0.898000	0.30612	0.889000	0.34880	0.359000	0.29487	-0.189000	0.09629	-1.869000	0.01141	-1.957000	0.00481	GAA			0.373	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376248.1				T	30945390	A	T	30945390	3	4	24	1	0	0	0	0	1	0	0	0	17426	69	3	5	1572	5	WRN	8	30945390	Missense_Mutation	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10		30945390	115418632	34	1552											
ATAD2	29028	bcgsc.ca	37	chr8	124382188	124382188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcatcatcatcgtcAtcatcatcatcatcttcatc	11	15	1	14	1	12	0	11	0	1	0	14	0	12	0	0	0	0	0	0	0	0	1	rs539981908|rs112492316	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr8:124382188A>G	ENST00000287394.5	-	7	911	c.804T>C	c.(802-804)gaT>gaC	p.D268D	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	268	Asp-rich.				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)			catcatcgtcatcatcatcat	0.368													-|||	107	0.0213658	0.0719	0.0144	5008	,	,		18275	0		0.002	False		,,,				2504	0				p.D268D													.	ATAD2	160		0			c.T804C												236	181	199					8																	124382188		2203	4300	6503	SO:0001819	synonymous_variant	29028	exon7			ATCGTCATCATCA	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.804T>C	8.37:g.124382188A>G			99	0.0101010101	1		161	0.04	7	NM_014109	36	0	0	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	CCDS6343.1																																																																																					0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381766.2		NM_014109		G	124382188	A	G	124382188	2	3	24	1	0	0	0	0	0	0	0	1	1071	214	8	4		4	ATAD2	8	124382188	Silent	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10	93436798	124382188	21981834	35	1553											
TMEM65	157378	bcgsc.ca	37	chr8	125384234	125384234	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccttcttggggtgcgtGcccagccgcctggggccgcc	1	8	16	16	3	1	0	0	0	1	0	2	0	2	0	6	5	3	1	6	5	0	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr8:125384234G>T	ENST00000297632.6	-	1	699	c.165C>A	c.(163-165)ggC>ggA	p.G55G		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	55						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGGGTGCGTGCCCAGCCGCC	0.771																																					p.G55G													.	TMEM65	14		0			c.C165A												3	3	3					8																	125384234		2001	3921	5922	SO:0001819	synonymous_variant	157378	exon1			GTGCGTGCCCAGC	BC032396	CCDS6348.1	8q24.13	2006-11-24			ENSG00000164983	ENSG00000164983			25203	protein-coding gene	gene with protein product						12477932	Standard	NM_194291		Approved		uc010mdl.3	Q6PI78	OTTHUMG00000165021	ENST00000297632.6:c.165C>A	8.37:g.125384234G>T			26	0	0		27	0.15	4	NM_194291	4	0	0	Q8N5G8|Q8WVK5	Silent	SNP	ENST00000297632.6	37	CCDS6348.1																																																																																					0.771	TMEM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381464.1		NM_194291		T	125384234	G	T	125384234	2	4	24	1	0	0	0	0	0	0	0	1	16217	1306	46	2		2	TMEM65	8	125384234	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	1002046	125384234	20979788	36	1554											
RANBP6	26953	mdanderson.org	37	chr9	6014327	6014327	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgtccaagtgtagtacaGgctgcagccctcacccttgg	8	10	10	13	0	2	0	1	0	1	0	3	0	3	0	3	2	3	4	3	2	3	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr9:6014327G>T	ENST00000259569.5	-	1	1291	c.1281C>A	c.(1279-1281)gcC>gcA	p.A427A	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	427					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GTGTAGTACAGGCTGCAGCCC	0.413																																					p.L56M													.	.			0			c.C166A												68	69	69					9																	6014327		2203	4300	6503	SO:0001819	synonymous_variant	26953	exon2			AGTACAGGCTGCA	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1281C>A	9.37:g.6014327G>T			106	0	0		58	0.05	3	NM_001243203	12	0	0	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1																																																																																					0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051650.1		NM_012416		T	6014327	G	T	6014327	2	4	24	1	0	0	0	0	0	0	0	1	13054	987	35	3		3	RANBP6	9	6014327	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10		6014327	135199104	37	1555											
FBP2	8789	mdanderson.org	37	chr9	97349666	97349666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtactataggaggattggaCcatgttgatcaccagggaat	12	10	13	6	0	1	1	1	1	0	0	1	5	1	5	2	5	1	2	2	5	4	5	rs573212	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr9:97349666C>T	ENST00000375337.3	-	2	322	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	86			V -> L (in dbSNP:rs573212). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9678974}.		carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GAGGATTGGACCATGTTGATC	0.527																																					p.V86I													.	.			0			c.G256A												153	151	152					9																	97349666		2203	4300	6503	SO:0001583	missense	8789	exon2			ATTGGACCATGTT	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.256G>A	9.37:g.97349666C>T	ENSP00000364486:p.Val86Ile		122	0	0		95	0.03	3	NM_003837	0		0	Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447241	0.96205	.	.	ENSG00000130957	ENST00000375337	T	0.71341	-0.56	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	N	0.04162	-0.26	0.39020	P	0.04027000000000003	B	0.02656	0.0	B	0.04013	0.001	T	0.54912	-0.8222	9	0.51188	T	0.08	6.9776	17.1633	0.86809	0.0:0.1263:0.8737:0.0	.	86	O00757	F16P2_HUMAN	I	86	ENSP00000364486:V86I	ENSP00000364486:V86I	V	-	1	0	FBP2	96389487	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	5.465000	0.66725	1.481000	0.48307	-0.120000	0.15030	GTC			0.527	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053189.1		NM_003837		T	97349666	C	T	97349666	3	4	24	1	0	0	0	0	1	0	0	0	5719	507	18	3	787	3	FBP2	9	97349666	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	91335339	97349666	43863765	38	1556											
C9orf96	169436	mdanderson.org	37	chr9	136265602	136265602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accatggagctacatgacagGgtcctcgatgtccagctgtg	9	9	12	11	1	0	1	0	1	0	0	3	3	2	2	3	2	3	2	3	2	1	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr9:136265602G>T	ENST00000371957.3	+	12	1250	c.1143G>T	c.(1141-1143)agG>agT	p.R381S	C9orf96_ENST00000371955.1_Missense_Mutation_p.R6S	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		381							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TACATGACAGGGTCCTCGATG	0.672																																					p.R381S													C9orf96_ENST00000371957,NS,carcinoma,+1,2	C9orf96_ENST00000371957	1	2	0			c.G1143T												158	107	124					9																	136265602		2203	4300	6503	SO:0001583	missense	169436	exon12			TGACAGGGTCCTC																												ENST00000371957.3:c.1143G>T	9.37:g.136265602G>T	ENSP00000361025:p.Arg381Ser		28	0	0		21	0.1	2	NM_153710	0		0	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	6.231	0.410788	0.11812	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.44482	0.92;0.92	4.48	1.47	0.22746	Armadillo-like helical (1);Armadillo-type fold (1);	0.519236	0.19078	N	0.123302	T	0.28001	0.0690	L	0.60455	1.87	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.18524	-1.0334	10	0.07325	T	0.83	-27.7195	2.6773	0.05084	0.1051:0.1811:0.5274:0.1864	.	381	Q8NE28	SGK71_HUMAN	S	381;6	ENSP00000361025:R381S;ENSP00000361023:R6S	ENSP00000361023:R6S	R	+	3	2	C9orf96	135255423	0.004000	0.15560	0.006000	0.13384	0.003000	0.03518	0.670000	0.25157	1.082000	0.41137	0.561000	0.74099	AGG			0.672	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054855.1				T	136265602	G	T	136265602	3	4	24	1	0	0	0	0	1	0	0	0	2510	1223	43	3	1189	3	C9orf96	9	136265602	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	38915936	136265602	4947829	39	1557											
PITRM1	10531	mdanderson.org	37	chr10	3214936	3214936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccgcctcagcacacacAggccctgccgcccgccgcag	7	3	10	21	4	2	0	2	0	0	0	2	0	2	0	6	1	3	2	6	1	0	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr10:3214936A>G	ENST00000224949.4	-	1	63	c.29T>C	c.(28-30)cTg>cCg	p.L10P	PITRM1_ENST00000380989.2_Missense_Mutation_p.L10P|PITRM1_ENST00000451104.2_Silent_p.P12P			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	10					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CAGCACACACAGGCCCTGCCG	0.756																																					p.L10P													.	.			0			c.T29C												4	7	6					10																	3214936		1868	3764	5632	SO:0001583	missense	10531	exon1			ACACACAGGCCCT	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.29T>C	10.37:g.3214936A>G	ENSP00000224949:p.Leu10Pro		33	0	0		25	0.12	3	NM_001242307	24	0	0	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.884187	0.33255	.	.	ENSG00000107959	ENST00000224949;ENST00000380989	T;T	0.04551	3.6;3.6	3.31	-6.36	0.01969	.	1.048000	0.07627	N	0.927996	T	0.03136	0.0092	.	.	.	0.09310	N	0.999996	P;P	0.44946	0.846;0.761	B;B	0.39258	0.295;0.154	T	0.37009	-0.9724	9	0.33940	T	0.23	.	6.9891	0.24745	0.2138:0.6312:0.155:0.0	.	10;10	Q5JRX3-2;Q5JRX3	.;PREP_HUMAN	P	10	ENSP00000224949:L10P;ENSP00000370377:L10P	ENSP00000224949:L10P	L	-	2	0	PITRM1	3204936	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.068000	0.11561	-0.836000	0.04229	0.260000	0.18958	CTG			0.756	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000046469.2				G	3214936	A	G	3214936	3	3	24	1	0	0	0	0	1	0	0	0	11970	188	7	4	3192	4	PITRM1	10	3214936	Missense_Mutation	SNP	A	TCGA-2G-AAG9-01A-11D-A42Y-10		3214936	132319811	40	1558											
BTAF1	9044	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	93784712	93784712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acctcctggtcagaggcattCcattgtttcccggtaagtgg	7	12	11	11	1	1	1	1	0	0	1	4	1	4	1	4	4	0	3	4	4	1	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr10:93784712C>G	ENST00000265990.6	+	35	5371	c.5063C>G	c.(5062-5064)tCc>tGc	p.S1688C	BTAF1_ENST00000544642.1_Missense_Mutation_p.S516C	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1688	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				CAGAGGCATTCCATTGTTTCC	0.378																																					p.S1688C													.	BTAF1	148		0			c.C5063G												116	110	112					10																	93784712		2203	4300	6503	SO:0001583	missense	9044	exon35			GGCATTCCATTGT	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.5063C>G	10.37:g.93784712C>G	ENSP00000265990:p.Ser1688Cys		141	0	0		142	0.04	5	NM_003972	78	0.04	3	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236224	0.79800	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75938	-0.98;-0.98	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.167882	0.53938	D	0.000041	D	0.84651	0.5519	L	0.59967	1.855	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.84190	0.0444	10	0.62326	D	0.03	-6.4126	20.4756	0.99175	0.0:1.0:0.0:0.0	.	1688	O14981	BTAF1_HUMAN	C	1688;516;538	ENSP00000265990:S1688C;ENSP00000439924:S516C	ENSP00000265990:S1688C	S	+	2	0	BTAF1	93774692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.874000	0.63064	2.847000	0.97988	0.655000	0.94253	TCC			0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049380.4		NM_003972		G	93784712	C	G	93784712	3	3	24	1	0	0	0	0	1	0	0	0	1538	855	30	5	5201	5	BTAF1	10	93784712	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	90569776	93784712	41750035	41	1559											
TPP1	1200	mdanderson.org	37	chr11	6637242	6637242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctagagtacttacctggagGcagggaaggtagggcggaac	11	6	17	7	1	0	1	0	0	0	1	0	4	0	4	1	6	3	4	1	6	6	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr11:6637242G>T	ENST00000299427.6	-	9	1199	c.1139C>A	c.(1138-1140)gCc>gAc	p.A380D	TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000533371.1_Missense_Mutation_p.A137D|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					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(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TTACCTGGAGGCAGGGAAGGT	0.507																																					p.A380D													TPP1,NS,carcinoma,-1,1	TPP1	-1	1	0			c.C1139A												111	96	101					11																	6637242		2201	4296	6497	SO:0001583	missense	1200	exon9			CTGGAGGCAGGGA	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.1139C>A	11.37:g.6637242G>T	ENSP00000299427:p.Ala380Asp		44	0	0		49	0.06	3	NM_000391	154	0	0	Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345678	0.82022	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.95518	-3.73;-3.73	5.56	5.56	0.83823	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99139	1.0855	10	0.87932	D	0	-10.4616	18.5131	0.90925	0.0:0.0:1.0:0.0	.	380	O14773	TPP1_HUMAN	D	380;137	ENSP00000299427:A380D;ENSP00000437066:A137D	ENSP00000299427:A380D	A	-	2	0	TPP1	6593818	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.507000	0.73717	2.623000	0.88846	0.561000	0.74099	GCC			0.507	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257261.2				T	6637242	G	T	6637242	3	4	24	1	0	0	0	0	1	0	0	0	16435	1203	42	2	572	2	TPP1	11	6637242	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10		6637242	128369274	42	1560											
CD6	923	ucsc.edu	37	chr11	60777289	60777289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctccaactgctcctggCggttcaacaactccaacctc	8	9	5	19	1	2	0	1	0	1	0	6	0	4	0	5	2	5	2	5	2	4	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr11:60777289C>T	ENST00000313421.7	+	5	1213	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	CD6_ENST00000344028.5_Missense_Mutation_p.R343W|CD6_ENST00000545105.1_Intron|CD6_ENST00000352009.5_Missense_Mutation_p.R343W|CD6_ENST00000452451.2_Missense_Mutation_p.R343W|CD6_ENST00000346437.4_Missense_Mutation_p.R343W	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	343	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						CTGCTCCTGGCGGTTCAACAA	0.602																																					p.R343W	Pancreas(169;904 2017 4767 38890 42505)												.	CD6	122		0			c.C1027T												60	58	59					11																	60777289		2203	4299	6502	SO:0001583	missense	923	exon5			TCCTGGCGGTTCA		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.1027C>T	11.37:g.60777289C>T	ENSP00000323280:p.Arg343Trp		25	0	0		39	0.1	4	NM_006725	17	0	0	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871314	0.51695	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	4.67	-2.53	0.06326	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.099482	0.41605	D	0.000846	T	0.52338	0.1728	M	0.81497	2.545	0.24477	N	0.994366	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.985;0.985;0.98;1.0	T	0.44697	-0.9311	10	0.49607	T	0.09	.	7.3641	0.26762	0.6052:0.2319:0.0991:0.0638	.	343;343;343;343	P30203-5;P30203-4;P30203;Q8N4Q7	.;.;CD6_HUMAN;.	W	343	ENSP00000344108:R343W;ENSP00000345566:R343W;ENSP00000323280:R343W;ENSP00000390676:R343W;ENSP00000340628:R343W	ENSP00000323280:R343W	R	+	1	2	CD6	60533865	0.000000	0.05858	0.910000	0.35882	0.689000	0.40095	-1.715000	0.01880	-0.572000	0.06006	-0.233000	0.12211	CGG			0.602	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396449.1		NM_006725		T	60777289	C	T	60777289	3	4	24	1	0	0	0	0	1	0	0	0	3030	759	27	1	1045	1	CD6	11	60777289	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	54140047	60777289	74229227	43	1561											
GANAB	23193	hgsc.bcm.edu	37	chr11	62400201	62400201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccaaattgtagaggcGatatggctccccacccctgc	10	8	8	15	1	0	1	0	0	0	1	2	2	2	1	5	2	1	2	5	2	3	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr11:62400201G>T	ENST00000356638.3	-	9	848	c.832C>A	c.(832-834)Cgc>Agc	p.R278S	GANAB_ENST00000346178.4_Missense_Mutation_p.R300S|GANAB_ENST00000540933.1_Missense_Mutation_p.R181S|GANAB_ENST00000534779.1_Missense_Mutation_p.R186S|GANAB_ENST00000534422.1_5'Flank	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	278					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)	TTGTAGAGGCGATATGGCTCC	0.542																																					p.R300S	Melanoma(23;1005 1074 15747 18937)												GANAB,NS,carcinoma,+1,1	GANAB	1	1	0			c.C898A												166	156	160					11																	62400201		2202	4299	6501	SO:0001583	missense	23193	exon10			AGAGGCGATATGG	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.832C>A	11.37:g.62400201G>T	ENSP00000349053:p.Arg278Ser		59	0	0		56	0.05	3	NM_198335	313	0	0	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464889	0.84425	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.19	5.19	0.71726	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.97807	0.9280	H	0.96111	3.77	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;0.975	D;D;D;D	0.97110	1.0;1.0;0.961;0.934	D	0.98727	1.0711	10	0.87932	D	0	-17.1059	16.2545	0.82505	0.0:0.0:1.0:0.0	.	164;186;278;300	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	S	300;278;186;181	ENSP00000340466:R300S;ENSP00000349053:R278S;ENSP00000435306:R186S;ENSP00000442962:R181S	ENSP00000340466:R300S	R	-	1	0	GANAB	62156777	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.444000	0.80532	2.706000	0.92434	0.455000	0.32223	CGC			0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000395689.1		NM_198334		T	62400201	G	T	62400201	3	4	24	1	0	0	0	0	1	0	0	0	6247	1058	37	1	2066	1	GANAB	11	62400201	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	1622912	62400201	72606315	44	1562											
KDM2A	22992	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	66948868	66948871	+	Splice_Site	DEL	AAGT	AAGT	-																															attctgatggactcggaataAagtaagtgttttcagcctgg																										TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	AAGT	AAGT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr11:66948868_66948871delAAGT	ENST00000529006.2	+	4	705_706	c.259_260delAAGT	c.(259-261)aag>g	p.K87fs	KDM2A_ENST00000398645.2_Splice_Site_p.K87fs	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	87					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						ACTCGGAATAAAGTAAGTGTTTTC	0.397																																					p.86_87del													.	.			0			c.258_260del																																									SO:0001630	splice_region_variant	22992	exon4			GGAATAAAGTAAG	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.260+1AAGT>-	11.37:g.66948872_66948875delAAGT			83	0	0		96	0.23	22	NM_012308	11	0	0	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	In_Frame_Del	DEL	ENST00000529006.2	37	CCDS44657.1																																																																																					0.397	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393140.2		NM_012308	Frame_Shift_Del	-	66948871	AAGT	-	66948868	8	5	24	1	0	1	0	1	0	0	1	0	8139	28	1	0	269	0	KDM2A	11	66948868	Splice_Site	DEL	AAGT	TCGA-2G-AAG9-01A-11D-A42Y-10	4548667	66948868	68057648	45	1563											
PITPNM1	9600	mdanderson.org	37	chr11	67261233	67261233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctggcggtgaaggagccGtcgatgctgaagaccacagc	10	5	15	11	4	0	3	0	2	0	1	1	5	0	4	2	3	3	2	2	3	2	0	rs370108604	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr11:67261233G>T	ENST00000534749.1	-	20	3272	c.3084C>A	c.(3082-3084)gaC>gaA	p.D1028E	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000356404.3_Missense_Mutation_p.D1028E|PITPNM1_ENST00000436757.2_Missense_Mutation_p.D1027E			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1028					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						TGAAGGAGCCGTCGATGCTGA	0.687																																					p.D1028E	GBM(28;144 709 4607 5525)												.	.			0			c.C3084A												22	20	21					11																	67261233		2081	4071	6152	SO:0001583	missense	9600	exon21			GGAGCCGTCGATG	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.3084C>A	11.37:g.67261233G>T	ENSP00000437286:p.Asp1028Glu		46	0	0		40	0.08	3	NM_004910	35	0	0	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929501	0.73327	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	D;D;D	0.92805	-3.11;-3.11;-3.11	4.2	-0.124	0.13523	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.51477	D	0.000097	D	0.95720	0.8608	M	0.90977	3.165	0.48632	D	0.999687	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93925	0.7209	10	0.87932	D	0	-33.2812	8.4307	0.32755	0.5319:0.0:0.4681:0.0	.	1027;1028	O00562-2;O00562	.;PITM1_HUMAN	E	1028;1027;1028	ENSP00000437286:D1028E;ENSP00000398787:D1027E;ENSP00000348772:D1028E	ENSP00000348772:D1028E	D	-	3	2	PITPNM1	67017809	0.861000	0.29849	0.999000	0.59377	0.991000	0.79684	-0.024000	0.12435	0.026000	0.15269	-0.339000	0.08088	GAC			0.687	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395520.1		NM_004910		T	67261233	G	T	67261233	3	4	24	1	0	0	0	0	1	0	0	0	11967	1136	40	1	666	1	PITPNM1	11	67261233	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	312365	67261233	67745283	46	1564											
DDX6	1656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	118627002	118627002	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcggcataagccatttcGgaaatcatgaaatacacgat	15	10	8	8	3	1	1	1	1	0	0	2	3	1	2	1	2	3	1	1	2	4	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr11:118627002G>T	ENST00000526070.2	-	11	1501	c.1141C>A	c.(1141-1143)Cga>Aga	p.R381R	DDX6_ENST00000534980.1_Silent_p.R381R|DDX6_ENST00000264018.4_Silent_p.R381R	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	381	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		AAGCCATTTCGGAAATCATGA	0.353			T	IGH@	B-NHL																																p.R381R				Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	.	.			0			c.C1141A												76	71	73					11																	118627002		1834	4074	5908	SO:0001819	synonymous_variant	1656	exon11			CATTTCGGAAATC	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1141C>A	11.37:g.118627002G>T			39	0	0		42	0.29	12	NM_004397	107	0.49	52	Q5D048	Silent	SNP	ENST00000526070.2	37	CCDS44751.1																																																																																					0.353	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000389647.2		NM_004397		T	118627002	G	T	118627002	2	4	24	1	0	0	0	0	0	0	0	1	4379	1124	39	1		1	DDX6	11	118627002	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	51365769	118627002	16379514	47	1565											
VPS26B	112936	mdanderson.org	37	chr11	134114845	134114845	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacaggagagtccatcccGatccggctcttcctggccgg	6	8	11	16	3	1	1	0	0	1	1	5	3	5	1	6	4	1	1	6	4	1	2	rs541501826		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr11:134114845G>T	ENST00000281187.5	+	5	1213	c.735G>T	c.(733-735)ccG>ccT	p.P245P	VPS26B_ENST00000525095.2_Silent_p.P245P	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	245					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGTCCATCCCGATCCGGCTCT	0.587											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P245P	Colon(171;1263 1952 15904 45703 47982)												VPS26B,NS,carcinoma,+1,1	VPS26B	1	1	0			c.G735T												64	60	61					11																	134114845		2201	4297	6498	SO:0001819	synonymous_variant	112936	exon5			CATCCCGATCCGG		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.735G>T	11.37:g.134114845G>T			41	0	0	1608	31	0.1	3	NM_052875	75	0	0	Q96A55	Silent	SNP	ENST00000281187.5	37	CCDS8495.1																																																																																					0.587	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393591.1		NM_052875		T	134114845	G	T	134114845	2	4	24	1	0	0	0	0	0	0	0	1	17222	1045	37	1		1	VPS26B	11	134114845	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	15487843	134114845	891671	48	1566											
PRB3	5544	broad.mit.edu	37	chr12	11420543	11420543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggggaccttgggactGgtttcctccttgtgggggtg	3	12	19	7	0	0	0	0	0	0	0	2	2	2	2	3	7	0	1	3	7	0	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr12:11420543G>T	ENST00000279573.7	-	3	775	c.640C>A	c.(640-642)Cag>Aag	p.Q214K	PRB3_ENST00000381842.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.Q193K|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	214	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.Q193K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTTGGGACTGGTTTCCTCCT	0.622																																					p.Q214K													PRB3_ENST00000538488,NS,carcinoma,0,1	PRB3	84	1	1	Substitution - Missense(1)	endometrium(1)	c.C640A												82	96	92					12																	11420543		1630	3602	5232	SO:0001583	missense	5544	exon3			GGGACTGGTTTCC			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.640C>A	12.37:g.11420543G>T	ENSP00000279573:p.Gln214Lys		128	0.03125	4		282	0.03	9	NM_006249	1	0	0	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37		.	.	.	.	.	.	.	.	.	.	.	0.016	-1.536231	0.00942	.	.	ENSG00000197870	ENST00000538488	T	0.06068	3.35	1.25	0.286	0.15710	.	.	.	.	.	T	0.02380	0.0073	.	.	.	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.46978	-0.9152	8	0.05959	T	0.93	.	5.8035	0.18428	0.0:0.0:0.46:0.54	.	214	Q04118	PRB3_HUMAN	K	193	ENSP00000442626:Q193K	ENSP00000279573:Q214K	Q	-	1	0	PRB3	11311810	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.468000	0.06656	0.064000	0.16427	-1.210000	0.01631	CAG			0.622	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000402119.5		NM_006249		T	11420543	G	T	11420543	3	4	24	1	0	0	0	0	1	0	0	0	12464	1357	47	3	297	3	PRB3	12	11420543	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10		11420543	122431352	49	1567											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	25380271	25380271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccctcattgcactgtactCctcttgacctgctgtgtcga	5	14	8	14	1	2	1	1	1	1	0	5	2	4	1	3	0	3	3	3	0	1	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr12:25380271C>T	ENST00000256078.4	-	3	250	c.187G>A	c.(187-189)Gag>Aag	p.E63K	KRAS_ENST00000311936.3_Missense_Mutation_p.E63K|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	63					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.E63K(2)|p.E63del(1)|p.E62_S65>D(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)			GCACTGTACTCCTCTTGACCT	0.423		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.E63K	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,caecum,carcinoma,0,6	KRAS_ENST00000256078	0	6	4	Substitution - Missense(2)|Complex - deletion inframe(1)|Deletion - In frame(1)	large_intestine(2)|thyroid(1)|haematopoietic_and_lymphoid_tissue(1)	c.G187A												113	101	105					12																	25380271		2203	4300	6503	SO:0001583	missense	3845	exon3	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	TGTACTCCTCTTG	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.187G>A	12.37:g.25380271C>T	ENSP00000256078:p.Glu63Lys		97	0.0103092784	1		218	0.19	42	NM_004985	127	0.26	33	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	35	5.552920	0.96501	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	T;T	0.77489	-1.1;-1.1	5.63	5.63	0.86233	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	L	0.47016	1.485	0.80722	D	1	D;D	0.64830	0.994;0.985	P;P	0.62298	0.9;0.77	D	0.85043	0.0924	10	0.87932	D	0	.	19.0279	0.92941	0.0:1.0:0.0:0.0	.	63;63	P01116-2;P01116	.;RASK_HUMAN	K	63	ENSP00000308495:E63K;ENSP00000256078:E63K	ENSP00000256078:E63K	E	-	1	0	KRAS	25271538	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.763000	0.85283	2.805000	0.96524	0.655000	0.94253	GAG			0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360		T	25380271	C	T	25380271	3	4	24	1	0	0	0	0	1	0	0	0	8453	864	30	3	515	3	KRAS	12	25380271	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	13959728	25380271	108471624	50	1568											
SPATS2	65244	broad.mit.edu	37	chr12	49908383	49908383	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgaaatggacaaagtGaaagctgaagcaagtaagat	17	8	11	5	0	0	4	0	3	0	1	0	5	0	5	0	1	3	4	0	1	6	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr12:49908383G>T	ENST00000553127.1	+	11	1398	c.885G>T	c.(883-885)gtG>gtT	p.V295V	SPATS2_ENST00000321898.6_Silent_p.V295V|SPATS2_ENST00000552918.1_Silent_p.V295V|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	295						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						TGGACAAAGTGAAAGCTGAAG	0.328																																					p.V295V													.	SPATS2	43		0			c.G885T												100	101	101					12																	49908383		2203	4300	6503	SO:0001819	synonymous_variant	65244	exon10			CAAAGTGAAAGCT	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.885G>T	12.37:g.49908383G>T			64	0	0		99	0.04	4	NM_023071	111	0	0	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Silent	SNP	ENST00000553127.1	37	CCDS31794.1																																																																																					0.328	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404023.1		NM_023071		T	49908383	G	T	49908383	2	4	24	1	0	0	0	0	0	0	0	1	15042	1277	45	3		3	SPATS2	12	49908383	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	24528112	49908383	83943512	51	1569											
LETMD1	25875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	51445948	51445948	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtggaagcacaatataaaGtttcatcaacttccataccg	15	11	6	9	1	2	0	2	0	0	0	3	1	3	1	2	1	3	2	2	1	7	5			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr12:51445948G>C	ENST00000262055.4	+	3	387	c.348G>C	c.(346-348)aaG>aaC	p.K116N	LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000418425.2_Missense_Mutation_p.K116N|LETMD1_ENST00000550929.1_Missense_Mutation_p.K60N|LETMD1_ENST00000547008.1_Missense_Mutation_p.K116N	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	116	LETM1.					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						ACAATATAAAGTTTCATCAAC	0.413																																					p.K116N													.	.			0			c.G348C												98	100	99					12																	51445948		2203	4300	6503	SO:0001583	missense	25875	exon3			TATAAAGTTTCAT	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.348G>C	12.37:g.51445948G>C	ENSP00000262055:p.Lys116Asn		63	0	0		75	0.12	9	NM_001243689	28	0.18	5	A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597421	0.46318	.	.	ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000548401;ENST00000418425;ENST00000547008	T;T;T;T;T;T;T	0.50001	0.87;0.89;0.87;0.77;0.76;0.84;0.78	4.87	4.87	0.63330	LETM1-like (1);	0.483231	0.24100	N	0.041549	T	0.48484	0.1502	L	0.47716	1.5	0.80722	D	1	B;D;P	0.52996	0.175;0.957;0.642	B;P;B	0.48454	0.112;0.578;0.412	T	0.30060	-0.9991	10	0.16896	T	0.51	-10.6661	17.3239	0.87242	0.0:0.0:1.0:0.0	.	116;116;116	B3KXK7;F8W1Z2;Q6P1Q0	.;.;LTMD1_HUMAN	N	83;22;60;116;116;123;116;116	ENSP00000446862:K83N;ENSP00000450163:K60N;ENSP00000262055:K116N;ENSP00000448110:K116N;ENSP00000450082:K123N;ENSP00000389903:K116N;ENSP00000447419:K116N	ENSP00000262055:K116N	K	+	3	2	LETMD1	49732215	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.667000	0.37471	2.689000	0.91719	0.655000	0.94253	AAG			0.413	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404710.1		NM_015416		C	51445948	G	C	51445948	3	2	24	1	0	0	0	0	1	0	0	0	8751	1020	36	5	358	5	LETMD1	12	51445948	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	1537565	51445948	82405947	52	1570											
AMHR2	269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53825148	53825148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agactgtacttcaattcctgCccctaccatcctcccctgta	8	12	4	17	0	1	1	1	0	0	1	4	1	4	1	7	0	3	2	7	0	4	5			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr12:53825148C>T	ENST00000257863.4	+	11	1693	c.1613C>T	c.(1612-1614)gCc>gTc	p.A538V	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.A443V	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	538					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)	TCAATTCCTGCCCCTACCATC	0.597																																					p.A538V													.	.			0			c.C1613T												123	104	110					12																	53825148		2203	4300	6503	SO:0001583	missense	269	exon11			TTCCTGCCCCTAC	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.1613C>T	12.37:g.53825148C>T	ENSP00000257863:p.Ala538Val		144	0	0		206	0.2	41	NM_020547	3	0	0	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756525	0.31137	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	D;D	0.94092	-3.25;-3.35	4.86	2.99	0.34606	.	0.209202	0.24245	N	0.040237	D	0.84206	0.5421	N	0.19112	0.55	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.68503	-0.5391	10	0.17832	T	0.49	.	6.6195	0.22796	0.0:0.7225:0.1811:0.0963	.	538	Q16671	AMHR2_HUMAN	V	538;443	ENSP00000257863:A538V;ENSP00000369117:A443V	ENSP00000257863:A538V	A	+	2	0	AMHR2	52111415	0.000000	0.05858	0.055000	0.19348	0.580000	0.36256	-0.044000	0.12023	0.741000	0.32674	-0.251000	0.11542	GCC			0.597	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407048.1		NM_020547		T	53825148	C	T	53825148	3	4	24	1	0	0	0	0	1	0	0	0	573	739	26	2	1655	2	AMHR2	12	53825148	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	2379200	53825148	80026747	53	1571											
GNS	2799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	65141505	65141505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatacctcatttaaatatTtccctgcaaaaaaggtctga	16	12	4	9	0	2	1	1	1	1	0	3	1	3	1	2	1	3	1	2	1	8	5			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr12:65141505T>C	ENST00000258145.3	-	3	616	c.446A>G	c.(445-447)aAa>aGa	p.K149R	GNS_ENST00000543646.1_Missense_Mutation_p.K181R|GNS_ENST00000542058.1_Missense_Mutation_p.K129R|GNS_ENST00000418919.2_Missense_Mutation_p.K93R	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	149					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ATTTAAATATTTCCCTGCAAA	0.308																																					p.K149R													.	.			0			c.A446G												105	101	102					12																	65141505		2203	4300	6503	SO:0001583	missense	2799	exon3			AAATATTTCCCTG		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.446A>G	12.37:g.65141505T>C	ENSP00000258145:p.Lys149Arg		114	0	0		241	0.21	51	NM_002076	82	0.13	11	B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215832	0.58452	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471;ENST00000545273	D;D;D;D;D	0.99961	-4.81;-4.81;-4.81;-4.81;-9.26	5.74	5.74	0.90152	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99971	0.9990	H	0.98295	4.195	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	0.96928	0.9679	9	.	.	.	-23.1297	16.3501	0.83202	0.0:0.0:0.0:1.0	.	129;181;149;93	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	R	93;149;181;129;66;86;73	ENSP00000413130:K93R;ENSP00000258145:K149R;ENSP00000438497:K181R;ENSP00000444819:K129R;ENSP00000445055:K73R	.	K	-	2	0	GNS	63427772	1.000000	0.71417	0.987000	0.45799	0.063000	0.16089	7.921000	0.87530	2.323000	0.78572	0.528000	0.53228	AAA			0.308	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000401195.2				C	65141505	T	C	65141505	3	2	24	1	0	0	0	0	1	0	0	0	6564	1841	64	4	1260	4	GNS	12	65141505	Missense_Mutation	SNP	T	TCGA-2G-AAG9-01A-11D-A42Y-10	11316357	65141505	68710390	54	1572											
PLXNC1	10154	broad.mit.edu	37	chr12	94658982	94658982	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agactggctgttgtggcaggTtccggaattcagtactgtgg	7	12	15	7	1	1	1	1	0	0	1	2	2	2	2	1	5	1	5	1	5	2	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr12:94658982T>G	ENST00000258526.4	+	21	3827	c.3578T>G	c.(3577-3579)gTt>gGt	p.V1193G	PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V240G	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1193					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						TTGTGGCAGGTTCCGGAATTC	0.463																																					p.V1193G													.	PLXNC1	135		0			c.T3578G												151	163	159					12																	94658982		2203	4300	6503	SO:0001583	missense	10154	exon21			GGCAGGTTCCGGA	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.3578T>G	12.37:g.94658982T>G	ENSP00000258526:p.Val1193Gly		131	0.1374045802	18		160	0.19	30	NM_005761	20	0.15	3	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812222	0.50527	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.11277	2.79;2.79	5.85	5.85	0.93711	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.108387	0.64402	D	0.000006	T	0.17874	0.0429	N	0.22421	0.69	0.80722	D	1	P;D	0.69078	0.901;0.997	P;D	0.69142	0.633;0.962	T	0.14090	-1.0485	10	0.10636	T	0.68	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	240;1193	B4DHQ7;O60486	.;PLXC1_HUMAN	G	1193;240	ENSP00000258526:V1193G;ENSP00000446720:V240G	ENSP00000258526:V1193G	V	+	2	0	PLXNC1	93183113	1.000000	0.71417	0.993000	0.49108	0.632000	0.37999	5.688000	0.68227	2.234000	0.73211	0.460000	0.39030	GTT			0.463	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408126.2				G	94658982	T	G	94658982	3	3	24	1	0	0	0	0	1	0	0	0	12143	1725	60	4	3660	4	PLXNC1	12	94658982	Missense_Mutation	SNP	T	TCGA-2G-AAG9-01A-11D-A42Y-10	29517477	94658982	39192913	55	1573											
ULK1	8408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	132404132	132404132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcgtccactgtgaagCagggtgagggctgcgaccgc	6	7	16	12	3	0	2	0	2	0	0	2	3	1	2	3	2	2	2	3	2	1	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr12:132404132C>A	ENST00000321867.4	+	25	3151	c.2800C>A	c.(2800-2802)Cag>Aag	p.Q934K	ULK1_ENST00000540647.1_Missense_Mutation_p.Q179K	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	934					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.Q934*(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CACTGTGAAGCAGGGTGAGGG	0.637																																					p.Q934K													ULK1,NS,carcinoma,0,1	ULK1	0	1	1	Substitution - Nonsense(1)	lung(1)	c.C2800A												62	66	65					12																	132404132		2203	4299	6502	SO:0001583	missense	8408	exon25			GTGAAGCAGGGTG	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2800C>A	12.37:g.132404132C>A	ENSP00000324560:p.Gln934Lys		51	0	0		57	0.18	10	NM_003565	153	0.19	29	Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057106	0.93846	.	.	ENSG00000177169	ENST00000321867;ENST00000540647	T;T	0.42513	0.97;0.97	4.84	4.84	0.62591	Serine/threonine-protein kinase, C-terminal (1);	0.138479	0.49305	D	0.000159	T	0.48333	0.1494	M	0.74881	2.28	0.80722	D	1	P	0.41131	0.739	B	0.38985	0.287	T	0.59369	-0.7467	10	0.72032	D	0.01	-13.9361	18.3252	0.90251	0.0:1.0:0.0:0.0	.	934	O75385	ULK1_HUMAN	K	934;179	ENSP00000324560:Q934K;ENSP00000441794:Q179K	ENSP00000324560:Q934K	Q	+	1	0	ULK1	130970085	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.452000	0.80683	2.404000	0.81709	0.561000	0.74099	CAG			0.637	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397769.3				A	132404132	C	A	132404132	3	1	24	1	0	0	0	0	1	0	0	0	16999	711	25	2	2898	2	ULK1	12	132404132	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	37745150	132404132	1447763	56	1574											
GOLGA3	2802	broad.mit.edu;mdanderson.org	37	chr12	133381349	133381349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgcatgtcctctaccttgGccataagcctctggtactgc	6	13	8	14	0	3	0	0	0	3	0	4	0	4	0	4	2	5	2	4	2	3	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr12:133381349G>T	ENST00000450791.2	-	6	1733	c.1550C>A	c.(1549-1551)gCc>gAc	p.A517D	GOLGA3_ENST00000204726.3_Missense_Mutation_p.A517D|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A517D|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A517D|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A517D			Q08378	GOGA3_HUMAN	golgin A3	517					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)		CTCTACCTTGGCCATAAGCCT	0.602																																					p.A517D													.	GOLGA3	234		0			c.C1550A												139	105	116					12																	133381349		2203	4300	6503	SO:0001583	missense	2802	exon7			ACCTTGGCCATAA	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.1550C>A	12.37:g.133381349G>T	ENSP00000410378:p.Ala517Asp		60	0	0		93	0.04	4	NM_001172557	65	0	0	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822953	0.32237	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.52	4.61	0.57282	.	0.263966	0.40908	D	0.000994	T	0.60779	0.2295	N	0.08118	0	0.80722	D	1	D;D;D	0.57571	0.98;0.98;0.967	P;P;P	0.51229	0.663;0.663;0.587	T	0.58244	-0.7670	10	0.19590	T	0.45	.	4.2883	0.10865	0.0906:0.3366:0.4524:0.1204	.	517;517;517	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	D	517	ENSP00000204726:A517D;ENSP00000410378:A517D;ENSP00000409303:A517D;ENSP00000442143:A517D;ENSP00000442603:A517D	ENSP00000204726:A517D	A	-	2	0	GOLGA3	131891422	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	2.409000	0.44583	2.586000	0.87340	0.561000	0.74099	GCC			0.602	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397569.2		NM_005895		T	133381349	G	T	133381349	3	4	24	1	0	0	0	0	1	0	0	0	6568	1203	42	2	3156	2	GOLGA3	12	133381349	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	977217	133381349	470546	57	1575											
FLT3	2322	ucsc.edu	37	chr13	28644724	28644724	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatcttgatttgtaatagtCccaaatatcattgcagaaaa	16	13	6	6	0	2	3	1	1	1	2	3	3	3	3	1	0	1	2	1	0	6	6			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr13:28644724C>A	ENST00000241453.7	-	2	150	c.69G>T	c.(67-69)ggG>ggT	p.G23G	FLT3_ENST00000380982.4_Silent_p.G23G|FLT3_ENST00000537084.1_Silent_p.G23G	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	23					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|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)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTAATAGTCCCAAATATCA	0.318			"Mis, O"		"AML, ALL"																																p.G23G				Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	FLT3	15525		0			c.G69T												68	62	64					13																	28644724		2203	4296	6499	SO:0001819	synonymous_variant	2322	exon2			AATAGTCCCAAAT	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.69G>T	13.37:g.28644724C>A			46	0	0		42	0.1	4	NM_004119	0		0	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	CCDS31953.1																																																																																					0.318	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000044319.2				A	28644724	C	A	28644724	2	1	24	1	0	0	0	0	0	0	0	1	5955	842	30	3		3	FLT3	13	28644724	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10		28644724	86525154	58	1576											
IPO5	3843	hgsc.bcm.edu	37	chr13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcacatcgttgagaatgCggttcaaaaagaactgagac	16	7	11	7	2	1	3	1	2	0	3	2	6	1	3	0	1	3	3	0	1	5	2	rs566255473		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr13:98658520C>T	ENST00000490680.1	+	14	1699	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	IPO5_ENST00000261574.5_Missense_Mutation_p.A563V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000493492.2_3'UTR			O00410	IPO5_HUMAN	importin 5	545					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													C|||	1	0.000199681	8e-04	0	5008	,	,		16537	0		0	False		,,,				2504	0				p.A563V													IPO5,NS,carcinoma,0,1	IPO5	0	1	0			c.C1688T												95	92	93					13																	98658520		2203	4300	6503	SO:0001583	missense	3843	exon17			AGAATGCGGTTCA	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1634C>T	13.37:g.98658520C>T	ENSP00000418393:p.Ala545Val		98	0	0		93	0.04	4	NM_002271	164	0	0	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423620|5.423620	0.96111|0.96111	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76644|0.76644	0.4016|0.4016	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D|.	0.69078|.	0.947;0.995;0.997|.	P;P;P|.	0.54664|.	0.59;0.578;0.758|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.72032|.	D|.	0.01|.	-10.5253|-10.5253	18.8688|18.8688	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	420;545;563|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	V|W	563;545;545;420|547	ENSP00000261574:A563V;ENSP00000350219:A545V;ENSP00000418393:A545V;ENSP00000445126:A420V|.	ENSP00000261574:A563V|.	A|R	+|+	2|1	0|2	IPO5|IPO5	97456521|97456521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.928000|5.928000	0.70088|0.70088	2.525000|2.525000	0.85131|0.85131	0.460000|0.460000	0.39030|0.39030	GCG|CGG			0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000354655.1		NM_002271		T	98658520	C	T	98658520	3	4	24	1	0	0	0	0	1	0	0	0	7811	768	27	1	1746	1	IPO5	13	98658520	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	70013796	98658520	16511358	59	1577											
CCDC88C	440193	mdanderson.org	37	chr14	91804418	91804418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgggtcagctccagctccagCctctccacgcggttcgcctt	4	9	10	18	4	2	0	1	0	1	0	6	0	4	0	5	2	3	3	5	2	0	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr14:91804418C>T	ENST00000389857.6	-	10	1067	c.981G>A	c.(979-981)agG>agA	p.R327R		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	327					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)			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)				CCAGCTCCAGCCTCTCCACGC	0.637																																					p.R327R													.	.			0			c.G981A												45	51	49					14																	91804418		2122	4237	6359	SO:0001819	synonymous_variant	440193	exon10			CTCCAGCCTCTCC		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.981G>A	14.37:g.91804418C>T			47	0	0		44	0.07	3	NM_001080414	8	0	0	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																					0.637	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411650.1		XM_029353		T	91804418	C	T	91804418	2	4	24	1	0	0	0	0	0	0	0	1	2867	738	26	2		2	CCDC88C	14	91804418	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10		91804418	15545122	60	1578											
TRMT61A	115708	mdanderson.org	37	chr14	104001089	104001089	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaccagccccttccgcagCggcacgcccatgaaggaggc	9	3	12	17	3	0	1	0	1	0	0	1	3	1	2	5	3	2	2	5	3	1	1	rs372778660	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr14:104001089C>T	ENST00000389749.4	+	4	908	c.801C>T	c.(799-801)agC>agT	p.S267S		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	267						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						CCTTCCGCAGCGGCACGCCCA	0.706													C|||	2	0.000399361	0.0015	0	5008	,	,		15565	0		0	False		,,,				2504	0				p.S267S													.	.			0			c.C801T							C		1,4151		0,1,2075	9	14	13		801	-0.9	1	14		13	1,8395		0,1,4197	no	coding-synonymous	TRMT61A	NM_152307.2		0,2,6272	TT,TC,CC		0.0119,0.0241,0.0159		267/290	104001089	2,12546	2076	4198	6274	SO:0001819	synonymous_variant	115708	exon4			CCGCAGCGGCACG	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.801C>T	14.37:g.104001089C>T			29	0	0		32	0.09	3	NM_152307	53	0	0	A6NN78|Q8N7Q9	Silent	SNP	ENST00000389749.4	37	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	C	1.903	-0.452555	0.04540	2.41E-4	1.19E-4	ENSG00000166166	ENST00000299202	.	.	.	4.47	-0.946	0.10385	.	.	.	.	.	T	0.57621	0.2066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53049	-0.8493	4	.	.	.	-24.1203	10.7734	0.46336	0.0:0.4321:0.0:0.5679	.	.	.	.	V	169	.	.	A	+	2	0	TRMT61A	103070842	0.001000	0.12720	0.996000	0.52242	0.089000	0.18198	-1.687000	0.01927	-0.242000	0.09667	-0.727000	0.03589	GCG			0.706	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414988.1		NM_152307		T	104001089	C	T	104001089	2	4	24	1	0	0	0	0	0	0	0	1	16593	767	27	1		1	TRMT61A	14	104001089	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	12196671	104001089	3348451	61	1579											
PACS2	23241	mdanderson.org	37	chr14	105834425	105834425	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcagataactactccgagGaggagtatgagagcttctcc	11	8	11	11	2	1	2	0	1	1	2	3	6	2	4	3	2	3	3	3	2	3	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr14:105834425G>T	ENST00000325438.8	+	6	1105	c.601G>T	c.(601-603)Gag>Tag	p.E201*	PACS2_ENST00000430725.2_Nonsense_Mutation_p.E134*|PACS2_ENST00000447393.1_Nonsense_Mutation_p.E201*|PACS2_ENST00000458164.2_Nonsense_Mutation_p.E201*|PACS2_ENST00000547217.1_Nonsense_Mutation_p.E171*			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	201					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CTACTCCGAGGAGGAGTATGA	0.642																																					p.E201X													.	.			0			c.G601T												50	51	51					14																	105834425		2202	4300	6502	SO:0001587	stop_gained	23241	exon6			TCCGAGGAGGAGT	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.601G>T	14.37:g.105834425G>T	ENSP00000321834:p.Glu201*		50	0	0		45	0.07	3	NM_015197	20	0	0	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Nonsense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	40	8.262527	0.98732	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	.	.	.	4.14	4.14	0.48551	.	0.055575	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.4158	14.9749	0.71264	0.0:0.0:1.0:0.0	.	.	.	.	X	134;201;201;201;171	.	ENSP00000321834:E201X	E	+	1	0	PACS2	104905470	1.000000	0.71417	0.976000	0.42696	0.797000	0.45037	9.483000	0.97937	1.845000	0.53610	0.491000	0.48974	GAG			0.642	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000409209.1		XM_377355		T	105834425	G	T	105834425	4	4	24	1	0	0	0	0	0	1	0	0	11390	1175	41	3	623	3	PACS2	14	105834425	Nonsense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	1833336	105834425	1515115	62	1580											
GGA2	23062	mdanderson.org	37	chr16	23481479	23481479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacacaatgagaggcggCaggctgcctggtataaaggg	12	7	14	8	1	1	1	1	1	0	1	1	2	1	1	1	5	2	3	1	5	5	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr16:23481479C>T	ENST00000309859.4	-	15	1540	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	486	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGAGAGGCGGCAGGCTGCCTG	0.547																																					p.L486L													.	.			0			c.G1458A												46	46	46					16																	23481479		2197	4300	6497	SO:0001819	synonymous_variant	23062	exon15			AGGCGGCAGGCTG	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.1458G>A	16.37:g.23481479C>T			36	0	0		39	0.08	3	NM_015044	158	0	0	D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	ENST00000309859.4	37	CCDS10611.1																																																																																					0.547	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214019.1				T	23481479	C	T	23481479	2	4	24	1	0	0	0	0	0	0	0	1	6367	697	25	2		2	GGA2	16	23481479	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10		23481479	66873274	63	1581											
UBFD1	56061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	23569548	23569548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaagcatgacgtgaagttCcccctggacagcacaggctc	11	6	10	14	1	0	2	0	2	0	0	2	3	1	3	3	2	2	4	3	2	2	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr16:23569548C>T	ENST00000395878.3	+	2	684	c.303C>T	c.(301-303)ttC>ttT	p.F101F	UBFD1_ENST00000567212.1_Silent_p.F92F|EARS2_ENST00000563232.1_5'Flank|EARS2_ENST00000449606.1_5'Flank|EARS2_ENST00000564501.1_5'Flank|UBFD1_ENST00000219638.4_Silent_p.F325F|UBFD1_ENST00000571064.1_3'UTR|EARS2_ENST00000563459.1_5'Flank|UBFD1_ENST00000567264.1_Silent_p.F101F	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	101	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ACGTGAAGTTCCCCCTGGACA	0.602																																					p.F101F	Melanoma(22;290 1069 22358 48158)												UBFD1,colon,carcinoma,+2,1	UBFD1	2	1	0			c.C303T												47	54	52					16																	23569548		2065	4222	6287	SO:0001819	synonymous_variant	56061	exon2			GAAGTTCCCCCTG	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"ubiquitin-binding protein homolog"					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.303C>T	16.37:g.23569548C>T			83	0	0		70	0.13	9	NM_019116	111	0.23	25	A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	CCDS10613.2																																																																																					0.602	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250795.2		NM_019116		T	23569548	C	T	23569548	2	4	24	1	0	0	0	0	0	0	0	1	16908	854	30	3		3	UBFD1	16	23569548	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	88069	23569548	66785205	64	1582											
MARVELD3	91862	mdanderson.org	37	chr16	71660181	71660181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgggcccggccgagagagCgggacccgggacggcgcccc	5	0	18	18	7	0	1	0	0	0	1	0	5	0	3	6	5	1	0	6	5	0	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr16:71660181C>T	ENST00000268485.3	+	1	93	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000567566.1_Missense_Mutation_p.R17W|MARVELD3_ENST00000567501.1_5'Flank|MARVELD3_ENST00000299952.4_Missense_Mutation_p.R17W|MARVELD3_ENST00000565261.1_Missense_Mutation_p.R17W	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	17	Arg-rich.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCCGAGAGAGCGGGACCCGGG	0.741																																					p.R17W													.	.			0			c.C49T												4	9	7					16																	71660181		1680	3262	4942	SO:0001583	missense	91862	exon1			AGAGAGCGGGACC	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.49C>T	16.37:g.71660181C>T	ENSP00000268485:p.Arg17Trp		25	0	0		18	0.11	2	NM_052858	1	0	0	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	c	8.446	0.852046	0.17034	.	.	ENSG00000140832	ENST00000268485;ENST00000299952	T;T	0.53857	0.6;0.6	4.14	1.87	0.25490	.	0.000000	0.40064	N	0.001183	T	0.66703	0.2816	M	0.69823	2.125	0.36868	D	0.888744	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	T	0.72320	-0.4329	10	0.87932	D	0	-30.1372	9.0907	0.36610	0.5697:0.4303:0.0:0.0	.	17;17;40	Q96A59-2;Q96A59;Q9BSH2	.;MALD3_HUMAN;.	W	17	ENSP00000268485:R17W;ENSP00000299952:R17W	ENSP00000268485:R17W	R	+	1	2	MARVELD3	70217682	0.060000	0.20803	0.413000	0.26509	0.072000	0.16883	0.038000	0.13862	0.888000	0.36160	0.448000	0.29417	CGG			0.741	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000268991.2		NM_052858		T	71660181	C	T	71660181	3	4	24	1	0	0	0	0	1	0	0	0	9335	759	27	1	51	1	MARVELD3	16	71660181	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	48090633	71660181	18694572	65	1583											
PITPNA	5306	mdanderson.org	37	chr17	1451640	1451640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttctcgtgtatattcaggGctccctctggggccagcatt	5	14	10	12	1	3	0	1	0	2	0	5	0	4	0	2	3	1	3	2	3	2	5			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr17:1451640G>A	ENST00000313486.7	-	4	494	c.239C>T	c.(238-240)gCc>gTc	p.A80V	PITPNA_ENST00000539476.1_Missense_Mutation_p.A80V	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	80					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)		TATATTCAGGGCTCCCTCTGG	0.557																																					p.A80V													.	.			0			c.C239T												81	83	82					17																	1451640		1878	4108	5986	SO:0001583	missense	5306	exon4			TTCAGGGCTCCCT	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.239C>T	17.37:g.1451640G>A	ENSP00000316809:p.Ala80Val		53	0	0		44	0.07	3	NM_006224	77	0	0		Missense_Mutation	SNP	ENST00000313486.7	37	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	G	36	5.692212	0.96793	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	T;T	0.53857	0.6;0.6	5.75	5.75	0.90469	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	M	0.77313	2.365	0.80722	D	1	P	0.50066	0.931	B	0.37015	0.239	T	0.66866	-0.5815	10	0.87932	D	0	.	18.9446	0.92616	0.0:0.0:1.0:0.0	.	80	Q00169	PIPNA_HUMAN	V	80;80;7	ENSP00000441869:A80V;ENSP00000316809:A80V	ENSP00000316809:A80V	A	-	2	0	PITPNA	1398390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.708000	0.92522	0.650000	0.86243	GCC			0.557	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438927.3				A	1451640	G	A	1451640	3	1	24	1	0	0	0	0	1	0	0	0	11964	1203	42	2	605	2	PITPNA	17	1451640	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10		1451640	79743570	66	1584											
NEUROD2	4761	mdanderson.org	37	chr17	37761788	37761788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaagacaagagattctcCgagtggacgcccccgcgcac	10	6	11	14	5	1	2	0	0	1	2	3	5	1	3	3	1	0	2	3	1	2	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr17:37761788C>T	ENST00000302584.4	-	2	1285	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	355					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	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)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			AGAGATTCTCCGAGTGGACGC	0.617																																					p.S355S													.	.			0			c.G1065A												34	38	36					17																	37761788		2203	4299	6502	SO:0001819	synonymous_variant	4761	exon2			ATTCTCCGAGTGG	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"Basic helix-loop-helix proteins"	7763	protein-coding gene	gene with protein product		601725	"neurogenic differentiation 2"			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.1065G>A	17.37:g.37761788C>T			73	0	0		64	0.05	3	NM_006160	1	0	0	Q8TBI7|Q9UQC6	Silent	SNP	ENST00000302584.4	37	CCDS11338.1																																																																																					0.617	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256931.2		NM_006160		T	37761788	C	T	37761788	2	4	24	1	0	0	0	0	0	0	0	1	10366	639	23	1		1	NEUROD2	17	37761788	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	36310148	37761788	43433422	67	1585											
HAP1	9001	mdanderson.org	37	chr17	39884463	39884463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgactcaccatccggcagCgctgctgcagcttcagcacc	7	6	9	19	3	2	0	2	0	0	0	3	1	3	0	4	1	5	6	4	1	0	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr17:39884463C>T	ENST00000310778.5	-	7	1199	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	HAP1_ENST00000347901.4_Missense_Mutation_p.R397H|HAP1_ENST00000393939.2_Missense_Mutation_p.R397H|HAP1_ENST00000341193.5_Missense_Mutation_p.R405H|RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	397	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)			CATCCGGCAGCGCTGCTGCAG	0.642																																					p.R405H													.	.			0			c.G1214A												42	41	41					17																	39884463		2203	4300	6503	SO:0001583	missense	9001	exon7			CGGCAGCGCTGCT	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.1190G>A	17.37:g.39884463C>T	ENSP00000309392:p.Arg397His		33	0	0		42	0.07	3	NM_001079870	4	0	0	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	C	12.85	2.062456	0.36373	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.14	4.14	0.48551	.	0.180783	0.27315	N	0.019929	T	0.38268	0.1034	L	0.46741	1.465	0.23506	N	0.997539	D;D;D;D	0.76494	0.999;0.999;0.998;0.988	P;P;P;P	0.60682	0.878;0.878;0.83;0.828	T	0.10451	-1.0629	10	0.66056	D	0.02	-2.6988	11.9683	0.53049	0.0:1.0:0.0:0.0	.	397;405;397;397	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	H	397;397;397;405	ENSP00000377513:R397H;ENSP00000309392:R397H;ENSP00000334002:R397H;ENSP00000343170:R405H	ENSP00000309392:R397H	R	-	2	0	HAP1	37137989	0.004000	0.15560	0.943000	0.38184	0.007000	0.05969	0.962000	0.29280	2.183000	0.69458	0.549000	0.68633	CGC			0.642	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000389619.1		NM_003949		T	39884463	C	T	39884463	3	4	24	1	0	0	0	0	1	0	0	0	6968	768	27	1	689	1	HAP1	17	39884463	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	2122675	39884463	41310747	68	1586											
HOXB4	3214	mdanderson.org	37	chr17	46655452	46655452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggcgggggtggtggcGgaggcggcgggggcccaggg	2	2	29	8	5	0	0	0	0	0	0	0	1	0	1	1	13	0	0	1	13	0	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr17:46655452G>T	ENST00000332503.5	-	1	2021	c.230C>A	c.(229-231)cCg>cAg	p.P77Q	HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000460160.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	77	Poly-Pro.|Pro-rich (part of the transcriptional activation domain).				anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						gggtggtggcggaggcggcgg	0.826																																					p.P77Q													.	.			0			c.C230A												1	1	1					17																	46655452		304	900	1204	SO:0001583	missense	3214	exon1			GGTGGCGGAGGCG		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.230C>A	17.37:g.46655452G>T	ENSP00000328928:p.Pro77Gln		21	0	0		18	0.11	2	NM_024015	0		0	Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	G	4.648	0.120450	0.08881	.	.	ENSG00000182742	ENST00000332503	D	0.87729	-2.29	3.65	2.62	0.31277	.	0.585904	0.14303	U	0.328192	T	0.76162	0.3949	L	0.46157	1.445	0.09310	N	1	B	0.30361	0.277	B	0.19148	0.024	T	0.58393	-0.7644	10	0.10902	T	0.67	.	4.2745	0.10802	0.1247:0.0:0.6464:0.2289	.	77	P17483	HXB4_HUMAN	Q	77	ENSP00000328928:P77Q	ENSP00000328928:P77Q	P	-	2	0	HOXB4	44010451	0.910000	0.30920	0.007000	0.13788	0.886000	0.51366	-0.105000	0.10907	0.469000	0.27268	0.313000	0.20887	CCG			0.826	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358259.2				T	46655452	G	T	46655452	3	4	24	1	0	0	0	0	1	0	0	0	7318	1116	39	1	533	1	HOXB4	17	46655452	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	6770989	46655452	34539758	69	1587											
PPM1E	22843	mdanderson.org	37	chr17	56833708	56833708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcggccgtgccgccgcCgccgccccagctgccgcctt	2	5	12	22	7	0	0	0	0	0	0	1	0	0	0	9	1	3	2	9	1	0	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr17:56833708C>T	ENST00000308249.2	+	1	479	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GTgccgccgccgccgccccag	0.771																																					p.P117L													.	.			0			c.C350T												6	7	7					17																	56833708		1460	2617	4077	SO:0001583	missense	22843	exon1			CGCCGCCGCCGCC	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.350C>T	17.37:g.56833708C>T	ENSP00000312411:p.Pro117Leu		41	0	0		30	0.07	2	NM_014906	0		0	Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	c	15.39	2.820276	0.50633	.	.	ENSG00000175175	ENST00000308249	T	0.19938	2.11	3.38	-2.19	0.07015	.	.	.	.	.	T	0.08088	0.0202	N	0.19112	0.55	0.30343	N	0.785553	B	0.02656	0.0	B	0.01281	0.0	T	0.42155	-0.9468	9	0.07175	T	0.84	-15.2457	1.257	0.01993	0.1693:0.4333:0.1668:0.2306	.	117	Q8WY54-2	.	L	117	ENSP00000312411:P117L	ENSP00000312411:P117L	P	+	2	0	PPM1E	54188707	1.000000	0.71417	0.972000	0.41901	0.850000	0.48378	0.487000	0.22356	-0.187000	0.10516	0.450000	0.29827	CCG			0.771	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445458.1		NM_014906		T	56833708	C	T	56833708	3	4	24	1	0	0	0	0	1	0	0	0	12358	652	23	1	352	1	PPM1E	17	56833708	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	10178256	56833708	24361502	70	1588											
AATK	9625	mdanderson.org	37	chr17	79094597	79094597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccggggccagagccttgtgCctccccggaaaccccaggcc	6	4	12	19	2	0	1	0	0	0	1	1	2	1	2	9	4	3	0	9	4	1	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr17:79094597C>T	ENST00000326724.4	-	11	3163	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T	AATK_ENST00000417379.1_Missense_Mutation_p.A944T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1047					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGCCTTGTGCCTCCCCGGAA	0.726																																					p.A1047T													.	.			0			c.G3139A												5	6	5					17																	79094597		1829	4010	5839	SO:0001583	missense	9625	exon11			CTTGTGCCTCCCC	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3139G>A	17.37:g.79094597C>T	ENSP00000324196:p.Ala1047Thr		44	0	0		45	0.09	4	NM_001080395	1	0	0	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304022	0.40795	.	.	ENSG00000181409	ENST00000326724	T	0.77620	-1.11	4.13	0.923	0.19413	.	0.566878	0.16021	N	0.233302	T	0.57021	0.2025	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.40232	-0.9574	10	0.02654	T	1	.	7.7574	0.28932	0.0:0.6486:0.0:0.3514	.	1047	Q6ZMQ8	LMTK1_HUMAN	T	1047	ENSP00000324196:A1047T	ENSP00000324196:A1047T	A	-	1	0	AATK	76709192	0.000000	0.05858	0.004000	0.12327	0.358000	0.29455	0.459000	0.21908	0.235000	0.21160	0.462000	0.41574	GCA			0.726	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256055.1		NM_004920		T	79094597	C	T	79094597	3	4	24	1	0	0	0	0	1	0	0	0	26	739	26	2	1001	2	AATK	17	79094597	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	22260889	79094597	2100613	71	1589											
NCLN	56926	mdanderson.org	37	chr19	3193320	3193320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagatgctggccatggaGaccgccgtccccgtgtactt	6	8	13	14	4	0	2	0	0	0	2	1	4	1	2	6	3	2	2	6	3	1	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:3193320G>T	ENST00000246117.4	+	3	845	c.414G>T	c.(412-414)gaG>gaT	p.E138D	NCLN_ENST00000590671.1_Missense_Mutation_p.E64D	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	138					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCATGGAGACCGCCGTCC	0.647																																					p.E138D													.	.			0			c.G414T												98	79	85					19																	3193320		2203	4300	6503	SO:0001583	missense	56926	exon3			CATGGAGACCGCC	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.414G>T	19.37:g.3193320G>T	ENSP00000246117:p.Glu138Asp		39	0	0		29	0.1	3	NM_020170	104	0	0	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852504	0.51270	.	.	ENSG00000125912	ENST00000246117	T	0.34859	1.34	4.17	4.17	0.49024	.	0.113034	0.64402	D	0.000018	T	0.28433	0.0703	M	0.62266	1.93	0.58432	D	0.999991	P	0.43633	0.813	B	0.36378	0.223	T	0.05920	-1.0856	10	0.25751	T	0.34	-9.2614	6.6261	0.22830	0.2081:0.0:0.7919:0.0	.	138	Q969V3	NCLN_HUMAN	D	138	ENSP00000246117:E138D	ENSP00000246117:E138D	E	+	3	2	NCLN	3144320	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	4.078000	0.57606	1.878000	0.54408	0.505000	0.49811	GAG			0.647	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452545.1		NM_020170		T	3193320	G	T	3193320	3	4	24	1	0	0	0	0	1	0	0	0	10244	933	33	3	424	3	NCLN	19	3193320	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10		3193320	55935663	72	1590											
ZNF490	57474	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12692507	12692507	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacatggacaatcttcttTattttcacagagtgcttcaa	11	15	5	10	0	4	1	2	0	2	1	5	2	5	2	1	1	1	1	1	1	3	6			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:12692507T>C	ENST00000311437.6	-	5	504	c.382A>G	c.(382-384)Aaa>Gaa	p.K128E	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	128	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(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CAATCTTCTTTATTTTCACAG	0.353																																					p.K128E													ZNF490,NS,carcinoma,+2,1	ZNF490	2	1	0			c.A382G												76	76	76					19																	12692507		2203	4300	6503	SO:0001583	missense	57474	exon5			CTTCTTTATTTTC	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.382A>G	19.37:g.12692507T>C	ENSP00000311521:p.Lys128Glu		70	0	0		108	0.16	17	NM_020714	45	0.44	20		Missense_Mutation	SNP	ENST00000311437.6	37	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	T	7.616	0.675792	0.14841	.	.	ENSG00000188033	ENST00000311437;ENST00000440366	T;T	0.08102	3.13;3.48	0.996	-0.102	0.13613	Krueppel-associated box (1);	.	.	.	.	T	0.06645	0.0170	L	0.49778	1.585	0.22017	N	0.999413	B	0.16802	0.019	B	0.06405	0.002	T	0.46048	-0.9219	9	0.13108	T	0.6	.	4.7505	0.13057	0.0:0.3873:0.0:0.6127	.	128	Q9ULM2	ZN490_HUMAN	E	128;75	ENSP00000311521:K128E;ENSP00000404112:K75E	ENSP00000311521:K128E	K	-	1	0	ZNF490	12553507	0.000000	0.05858	0.239000	0.24122	0.154000	0.21943	-0.601000	0.05687	-0.097000	0.12307	0.402000	0.26972	AAA			0.353	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344073.1		NM_020714		C	12692507	T	C	12692507	3	2	24	1	0	0	0	0	1	0	0	0	17964	1763	61	4	1211	4	ZNF490	19	12692507	Missense_Mutation	SNP	T	TCGA-2G-AAG9-01A-11D-A42Y-10	9499187	12692507	46436476	73	1591											
FOSB	2354	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	45971880	45971880	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagactacgactccggCtcccggtgcagctcctcacc	6	6	10	19	4	1	1	1	0	0	1	4	3	4	1	5	3	3	3	5	3	1	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:45971880C>A	ENST00000353609.3	+	1	628	c.36C>A	c.(34-36)ggC>ggA	p.G12G	FOSB_ENST00000585836.1_Silent_p.G12G|FOSB_ENST00000591858.1_Silent_p.G12G|FOSB_ENST00000592811.1_5'Flank|FOSB_ENST00000590335.1_Silent_p.G12G|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Silent_p.G12G|FOSB_ENST00000586615.1_5'Flank|FOSB_ENST00000443841.2_Silent_p.G12G|FOSB_ENST00000417353.2_Silent_p.G12G	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	12					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		ACGACTCCGGCTCCCGGTGCA	0.637																																					p.G12G													.	FOSB	29		0			c.C36A												52	59	57					19																	45971880		2203	4300	6503	SO:0001819	synonymous_variant	2354	exon1			CTCCGGCTCCCGG		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.36C>A	19.37:g.45971880C>A			94	0	0		84	0.06	5	NM_001114171	2	0	0	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Silent	SNP	ENST00000353609.3	37	CCDS12664.1																																																																																					0.637	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459561.1		NM_006732		A	45971880	C	A	45971880	2	1	24	1	0	0	0	0	0	0	0	1	5999	784	28	2		2	FOSB	19	45971880	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	33279373	45971880	13157103	74	1592											
SIX5	147912	mdanderson.org	37	chr19	46269313	46269313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatcttgccctgctgcaGggccacacccgtcacgatgg	7	8	12	14	2	2	1	1	1	1	0	2	3	2	1	3	2	3	2	3	2	0	1	rs2014377	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:46269313G>T	ENST00000317578.6	-	3	2047	c.1666C>A	c.(1666-1668)Ctg>Atg	p.L556M	AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	556			L -> V (in dbSNP:rs2014377).		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)			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)		CCCTGCTGCAGGGCCACACCC	0.677																																					p.L556M													.	.			0			c.C1666A												31	33	33					19																	46269313		2201	4299	6500	SO:0001583	missense	147912	exon3			GCTGCAGGGCCAC	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.1666C>A	19.37:g.46269313G>T	ENSP00000316842:p.Leu556Met		92	0	0		110	0.03	3	NM_175875	53	0	0		Missense_Mutation	SNP	ENST00000317578.6	37	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	c	3.871	-0.027895	0.07589	.	.	ENSG00000177045	ENST00000317578	D	0.91996	-2.95	4.42	2.09	0.27110	.	0.905160	0.09086	N	0.850599	D	0.83105	0.5182	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.28638	0.092	T	0.73933	-0.3826	10	0.72032	D	0.01	-5.3761	7.236	0.26070	0.1767:0.4364:0.3869:0.0	.	556	Q8N196	SIX5_HUMAN	M	556	ENSP00000316842:L556M	ENSP00000316842:L556M	L	-	1	2	SIX5	50961153	0.094000	0.21725	0.967000	0.41034	0.803000	0.45373	1.156000	0.31712	0.490000	0.27771	-0.216000	0.12614	CTG			0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417341.3		NM_175875		T	46269313	G	T	46269313	3	4	24	1	0	0	0	0	1	0	0	0	14373	991	35	3	557	3	SIX5	19	46269313	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	297433	46269313	12859670	75	1593											
DMPK	1760	mdanderson.org	37	chr19	46274631	46274631	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtggatccgtggcccGgggactggggacccccgtga	6	5	19	11	3	0	1	0	1	0	0	1	5	1	5	4	8	0	0	4	8	1	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:46274631G>T	ENST00000291270.4	-	13	1749	c.1624C>A	c.(1624-1626)Cgg>Agg	p.R542R	DMPK_ENST00000600757.1_Silent_p.R547R|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000447742.2_Silent_p.R537R|DMPK_ENST00000458663.2_Silent_p.R537R|SIX5_ENST00000317578.6_5'Flank|AC074212.6_ENST00000586251.1_RNA|SIX5_ENST00000560168.1_5'Flank|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586498.1_RNA|AC074212.5_ENST00000559756.1_RNA|DMPK_ENST00000354227.5_Intron|DMPK_ENST00000343373.4_Silent_p.R552R|AC074212.6_ENST00000591530.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	542					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)		TCCGTGGCCCGGGGACTGGGG	0.677																																					p.R552R	Esophageal Squamous(35;307 869 9153 24033 28903)												.	.			0			c.C1654A												63	73	70					19																	46274631		2203	4300	6503	SO:0001819	synonymous_variant	1760	exon12			TGGCCCGGGGACT	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.1624C>A	19.37:g.46274631G>T			50	0	0		47	0.06	3	NM_001081563	85	0	0	E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	CCDS12674.1																																																																																					0.677	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000460572.1		NM_004409		T	46274631	G	T	46274631	2	4	24	1	0	0	0	0	0	0	0	1	4589	1115	39	1		1	DMPK	19	46274631	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	5318	46274631	12854352	76	1594											
SHANK1	50944	broad.mit.edu	37	chr19	51215270	51215270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttgaacaggagcagCtcgcagcatcgggggtcacc	8	6	14	13	2	1	1	1	1	0	0	3	2	1	2	2	3	4	5	2	3	1	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:51215270C>A	ENST00000293441.1	-	6	912	c.894G>T	c.(892-894)gaG>gaT	p.E298D	SHANK1_ENST00000391814.1_Missense_Mutation_p.E298D|SHANK1_ENST00000359082.3_Missense_Mutation_p.E298D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	298					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)		ACAGGAGCAGCTCGCAGCATC	0.637																																					p.E298D													.	SHANK1	210		0			c.G894T												69	73	72					19																	51215270		2203	4300	6503	SO:0001583	missense	50944	exon6			GAGCAGCTCGCAG	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.894G>T	19.37:g.51215270C>A	ENSP00000293441:p.Glu298Asp		98	0.0102040816	1		104	0.06	6	NM_016148	3	0	0	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232587	0.39498	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.17528	2.27;2.27;2.27	4.68	3.65	0.41850	Ankyrin repeat-containing domain (3);	0.000000	0.56097	U	0.000022	T	0.25121	0.0610	L	0.31207	0.915	0.50813	D	0.999896	D	0.76494	0.999	D	0.80764	0.994	T	0.02417	-1.1162	10	0.87932	D	0	-19.8045	6.8766	0.24151	0.0:0.7227:0.0:0.2773	.	298	Q9Y566	SHAN1_HUMAN	D	298	ENSP00000293441:E298D;ENSP00000351984:E298D;ENSP00000375690:E298D	ENSP00000293441:E298D	E	-	3	2	SHANK1	55907082	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.660000	0.37397	1.116000	0.41820	0.555000	0.69702	GAG			0.637	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268071.1		NM_016148		A	51215270	C	A	51215270	3	1	24	1	0	0	0	0	1	0	0	0	14287	796	28	2	5663	2	SHANK1	19	51215270	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	4940639	51215270	7913713	77	1595											
KLK10	5655	mdanderson.org	37	chr19	51519206	51519206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggctgagcacagcggtagGgaagctgcagggcccggacg	8	3	19	11	4	0	1	0	1	0	0	0	3	0	3	1	5	4	5	1	5	2	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:51519206G>T	ENST00000309958.3	-	4	694	c.476C>A	c.(475-477)cCc>cAc	p.P159H	CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000391805.1_Missense_Mutation_p.P159H|KLK10_ENST00000358789.3_Missense_Mutation_p.P159H	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	159	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		ACAGCGGTAGGGAAGCTGCAG	0.692																																					p.P159H													.	.			0			c.C476A												12	15	14					19																	51519206		2195	4289	6484	SO:0001583	missense	5655	exon4			CGGTAGGGAAGCT	AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"Kallikreins"	6358	protein-coding gene	gene with protein product		602673	"kallikrein 10"	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.476C>A	19.37:g.51519206G>T	ENSP00000311746:p.Pro159His		25	0	0		35	0.09	3	NM_145888	2	0	0	A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	g	14.53	2.562156	0.45590	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.95205	-3.64;-3.64;-3.64	4.46	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.35378	N	0.003255	D	0.97832	0.9288	M	0.93328	3.405	0.36785	D	0.884529	D	0.89917	1.0	D	0.83275	0.996	D	0.99964	1.1791	10	0.87932	D	0	.	14.9746	0.71261	0.0:0.0:1.0:0.0	.	159	O43240	KLK10_HUMAN	H	159	ENSP00000375681:P159H;ENSP00000311746:P159H;ENSP00000351640:P159H	ENSP00000311746:P159H	P	-	2	0	KLK10	56211018	1.000000	0.71417	0.973000	0.42090	0.011000	0.07611	4.752000	0.62176	2.179000	0.69175	0.655000	0.94253	CCC			0.692	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464337.2		NM_002776		T	51519206	G	T	51519206	3	4	24	1	0	0	0	0	1	0	0	0	8413	1232	43	3	366	3	KLK10	19	51519206	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	303936	51519206	7609777	78	1596											
ZNF480	147657	broad.mit.edu;mdanderson.org	37	chr19	52817472	52817472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggaaatgcctggaccctGcacagagggctttatacaag	12	8	12	9	0	0	1	0	0	0	1	0	3	0	3	2	3	3	2	2	3	4	3	rs200373642		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:52817472G>T	ENST00000595962.1	+	3	205	c.139G>T	c.(139-141)Gca>Tca	p.A47S	ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000334564.7_Missense_Mutation_p.A47S|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	47	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)		CCTGGACCCTGCACAGAGGGC	0.507																																					p.A47S													.	ZNF480	123		0			c.G139T												153	132	139					19																	52817472		2203	4300	6503	SO:0001583	missense	147657	exon3			GACCCTGCACAGA	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.139G>T	19.37:g.52817472G>T	ENSP00000471754:p.Ala47Ser		72	0	0		92	0.04	4	NM_144684	87	0	0	Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.206490	0.00292	.	.	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000334564	T;T	0.02258	4.37;4.37	2.04	-0.39	0.12450	Krueppel-associated box (4);	.	.	.	.	T	0.01905	0.0060	L	0.60067	1.865	0.09310	N	1	P;B	0.44659	0.84;0.085	B;B	0.31869	0.137;0.092	T	0.46898	-0.9158	9	0.22109	T	0.4	.	4.0342	0.09722	0.1477:0.0:0.6231:0.2292	.	47;47	F8WEZ9;Q8WV37	.;ZN480_HUMAN	S	69;47;47	ENSP00000417424:A47S;ENSP00000334164:A47S	ENSP00000334164:A47S	A	+	1	0	ZNF480	57509284	0.000000	0.05858	0.094000	0.20943	0.016000	0.09150	0.452000	0.21795	-0.177000	0.10690	-1.248000	0.01517	GCA			0.507	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000349001.3		NM_144684		T	52817472	G	T	52817472	3	4	24	1	0	0	0	0	1	0	0	0	17958	1319	46	2	145	2	ZNF480	19	52817472	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	1298266	52817472	6311511	79	1597											
RDH13	112724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55559896	55559896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtccagcagcaagtttgtCaagagaaagtgacctggatt	12	11	11	7	0	1	2	1	1	0	1	2	4	2	3	2	1	2	3	2	1	3	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:55559896C>G	ENST00000415061.3	-	5	602	c.459G>C	c.(457-459)ttG>ttC	p.L153F	CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000396247.3_Missense_Mutation_p.L82F	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	153					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GCAAGTTTGTCAAGAGAAAGT	0.512																																					p.L153F													RDH13_ENST00000415061,colon,carcinoma,-1,2	RDH13_ENST00000415061	-1	2	0			c.G459C												63	64	64					19																	55559896		2017	4167	6184	SO:0001583	missense	112724	exon5			GTTTGTCAAGAGA		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19978	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 3"		"retinol dehydrogenase 13 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.459G>C	19.37:g.55559896C>G	ENSP00000391121:p.Leu153Phe		69	0	0		92	0.23	21	NM_001145971	26	0.27	7	Q6UX79|Q96G88	Missense_Mutation	SNP	ENST00000415061.3	37	CCDS54320.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541355	0.65085	.	.	ENSG00000160439	ENST00000415061;ENST00000396247;ENST00000291892	D;D;D	0.92149	-2.98;-2.98;-2.98	5.29	1.97	0.26223	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.93897	0.8047	M	0.76002	2.32	0.43300	D	0.995299	D	0.89917	1.0	D	0.91635	0.999	D	0.91493	0.5213	10	0.62326	D	0.03	.	3.9477	0.09355	0.1666:0.5687:0.0:0.2647	.	153	Q8NBN7	RDH13_HUMAN	F	153;82;153	ENSP00000391121:L153F;ENSP00000379547:L82F;ENSP00000291892:L153F	ENSP00000291892:L153F	L	-	3	2	RDH13	60251708	1.000000	0.71417	0.789000	0.31954	0.952000	0.60782	1.522000	0.35921	0.740000	0.32651	0.549000	0.68633	TTG			0.512	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451470.1		NM_138412		G	55559896	C	G	55559896	3	3	24	1	0	0	0	0	1	0	0	0	13215	825	29	5	548	5	RDH13	19	55559896	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	2742424	55559896	3569087	80	1598											
ZFP28	140612	mdanderson.org	37	chr19	57050578	57050578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgaggagcggcccctaCggggcctgggcacagaggtg	7	3	18	13	3	0	1	0	0	0	1	0	3	0	2	4	6	3	1	4	6	1	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr19:57050578C>T	ENST00000301318.3	+	1	262	c.191C>T	c.(190-192)aCg>aTg	p.T64M	ZFP28_ENST00000594386.1_3'UTR|AC005498.3_ENST00000593218.1_lincRNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.T64M	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	64					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(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCGGCCCCTACGGGGCCTGGG	0.667																																					p.T64M	Ovarian(124;554 1662 19430 21141 52494)												.	.			0			c.C191T												6	7	7					19																	57050578		2014	3998	6012	SO:0001583	missense	140612	exon1			CCCCTACGGGGCC		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.191C>T	19.37:g.57050578C>T	ENSP00000301318:p.Thr64Met		13	0	0		26	0.12	3	NM_020828	7	0	0	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350944	0.24512	.	.	ENSG00000196867	ENST00000301318	T	0.05081	3.5	2.94	-0.616	0.11583	.	1.338300	0.05790	U	0.610220	T	0.02929	0.0087	N	0.03608	-0.345	0.09310	N	1	B;B	0.22211	0.017;0.066	B;B	0.09377	0.003;0.004	T	0.43360	-0.9396	10	0.46703	T	0.11	.	5.3577	0.16071	0.0:0.5487:0.0:0.4513	.	64;64	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	M	64	ENSP00000301318:T64M	ENSP00000301318:T64M	T	+	2	0	ZFP28	61742390	0.015000	0.18098	0.006000	0.13384	0.056000	0.15407	-0.175000	0.09825	-0.043000	0.13513	0.462000	0.41574	ACG			0.667	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458409.1		NM_020828		T	57050578	C	T	57050578	3	4	24	1	0	0	0	0	1	0	0	0	17665	536	19	1	193	1	ZFP28	19	57050578	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	1490682	57050578	2078405	81	1599											
THBD	7056	mdanderson.org	37	chr20	23028597	23028597	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcctatgagcaagccCgaatgcacgagccccacggc	11	4	12	14	3	0	2	0	1	0	1	0	5	0	2	4	1	5	2	4	1	3	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr20:23028597C>A	ENST00000377103.2	-	1	1781	c.1545G>T	c.(1543-1545)tcG>tcT	p.S515S		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	515					blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	TGAGCAAGCCCGAATGCACGA	0.711																																					p.S515S													.	.			0			c.G1545T												20	23	22					20																	23028597		2200	4296	6496	SO:0001819	synonymous_variant	7056	exon1			CAAGCCCGAATGC		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1545G>T	20.37:g.23028597C>A			50	0	0		56	0.07	4	NM_000361	3	0	0	Q8IV29|Q9UC32	Silent	SNP	ENST00000377103.2	37	CCDS13148.1																																																																																					0.711	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078307.2				A	23028597	C	A	23028597	2	1	24	1	0	0	0	0	0	0	0	1	15875	639	23	1		1	THBD	20	23028597	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10		23028597	39996923	82	1600											
RALY	22913	broad.mit.edu	37	chr20	32664877	32664877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgccggcggcggcggCggtggtggtggcagcggtgg	1	5	26	9	7	0	0	0	0	0	0	0	0	0	0	1	12	1	1	1	12	0	0	rs539352667	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr20:32664877C>T	ENST00000246194.3	+	8	1204	c.702C>T	c.(700-702)ggC>ggT	p.G234G	RALY_ENST00000375114.3_Silent_p.G218G	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	234	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						gcggcggcggcggtggtggtg	0.667																																					p.G234G													.	RALY	44		0			c.C702T												5	7	7					20																	32664877		2080	4086	6166	SO:0001819	synonymous_variant	22913	exon8			CGGCGGCGGTGGT	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.702C>T	20.37:g.32664877C>T			87	0	0		85	0.06	5	NM_016732	231	0	0	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Silent	SNP	ENST00000246194.3	37	CCDS13230.1																																																																																					0.667	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078753.1				T	32664877	C	T	32664877	2	4	24	1	0	0	0	0	0	0	0	1	13042	755	27	1		1	RALY	20	32664877	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	9636280	32664877	30360643	83	1601											
CSE1L	1434	mdanderson.org	37	chr20	47691377	47691377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtacataaggagagatttGgaaggatctggtgtgtatct	12	12	14	3	0	2	1	0	0	2	1	2	6	2	4	0	4	1	2	0	4	4	4			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr20:47691377G>T	ENST00000262982.2	+	11	1245	c.1122G>T	c.(1120-1122)ttG>ttT	p.L374F	CSE1L_ENST00000542325.1_Missense_Mutation_p.L157F|CSE1L_ENST00000396192.3_Missense_Mutation_p.L318F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	374					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGAGAGATTTGGAAGGATCTG	0.388																																					p.L374F													.	.			0			c.G1122T												193	176	182					20																	47691377		2203	4300	6503	SO:0001583	missense	1434	exon11			AGATTTGGAAGGA	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1122G>T	20.37:g.47691377G>T	ENSP00000262982:p.Leu374Phe		115	0.0086956522	1		113	0.04	5	NM_001316	315	0	0	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423645	0.62733	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.69175	-0.38;-0.38;-0.38	5.54	3.61	0.41365	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.80982	2.52	0.80722	D	1	D;D;P;D;D	0.71674	0.991;0.998;0.944;0.976;0.996	D;D;P;P;D	0.71414	0.918;0.973;0.808;0.797;0.973	T	0.76116	-0.3077	10	0.24483	T	0.36	-9.8213	9.9498	0.41631	0.1553:0.0:0.8447:0.0	.	63;157;318;318;374	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	F	374;157;318	ENSP00000262982:L374F;ENSP00000446477:L157F;ENSP00000379495:L318F	ENSP00000262982:L374F	L	+	3	2	CSE1L	47124784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.474000	0.35398	1.363000	0.46019	-0.136000	0.14681	TTG			0.388	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080345.2		NM_001316		T	47691377	G	T	47691377	3	4	24	1	0	0	0	0	1	0	0	0	3932	1339	47	3	1160	3	CSE1L	20	47691377	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	15026500	47691377	15334143	84	1602											
CTSZ	1522	mdanderson.org	37	chr20	57581505	57581505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagctcttgggcagatccGctggggacaggtactcatga	8	8	13	12	1	2	2	1	1	1	1	3	3	3	3	2	4	2	4	2	4	1	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr20:57581505G>A	ENST00000217131.5	-	2	297	c.179C>T	c.(178-180)gCg>gTg	p.A60V		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	60					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			GGGCAGATCCGCTGGGGACAG	0.637																																					p.A60V													.	.			0			c.C179T												85	72	76					20																	57581505		2203	4300	6503	SO:0001583	missense	1522	exon2			AGATCCGCTGGGG	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"Cathepsins"	2547	protein-coding gene	gene with protein product	"cathepsin X", "carboxypeptidase LB", "cathepsin IV", "cathepsin B2", "cathepsin Y", "cathepsin Z1", "cysteine-type carboxypeptidase", "lysosomal carboxypeptidase B"	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.179C>T	20.37:g.57581505G>A	ENSP00000217131:p.Ala60Val		61	0	0		46	0.07	3	NM_001336	1152	0	1	B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	ENST00000217131.5	37	CCDS13474.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477995	0.26511	.	.	ENSG00000101160	ENST00000217131	T	0.41065	1.01	5.29	3.33	0.38152	.	0.909290	0.09563	N	0.785315	T	0.36386	0.0965	L	0.43152	1.355	0.09310	N	1	B;B	0.16166	0.016;0.008	B;B	0.04013	0.0;0.001	T	0.25082	-1.0142	10	0.37606	T	0.19	.	10.8201	0.46599	0.071:0.1314:0.7976:0.0	.	60;60	Q5U000;Q9UBR2	.;CATZ_HUMAN	V	60	ENSP00000217131:A60V	ENSP00000217131:A60V	A	-	2	0	CTSZ	57014900	0.013000	0.17824	0.017000	0.16124	0.276000	0.26787	1.859000	0.39418	0.608000	0.30000	-0.175000	0.13238	GCG			0.637	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079899.1		NM_001336		A	57581505	G	A	57581505	3	1	24	1	0	0	0	0	1	0	0	0	4045	1087	38	1	752	1	CTSZ	20	57581505	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	9890128	57581505	5444015	85	1603											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514308	58514308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtgccctcggggcctgCgggcccgcgccaccgcgcca	2	4	14	21	7	0	0	0	0	0	0	2	0	1	0	7	3	2	0	7	3	0	0	rs374884643		TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr20:58514308C>T	ENST00000370996.3	-	1	1044	c.679G>A	c.(679-681)Gca>Aca	p.A227T	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	227	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				dephosphorylation (GO:0016311)|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 serine/threonine phosphatase activity (GO:0004722)	p.A227T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TCGGGGCCTGCGGGCCCGCGC	0.692																																					p.A227T													PPP1R3D,NS,carcinoma,0,2	PPP1R3D	23	2	2	Substitution - Missense(2)	urinary_tract(1)|prostate(1)	c.G679A							C	,THR/ALA	0,4402		0,0,2201	33	35	34		,679	3.5	0	20		34	1,8597	1.2+/-3.3	0,1,4298	no	intron,missense	PPP1R3D,C20orf177	NM_001190826.1,NM_006242.3	,58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,227/300	58514308	1,12999	2201	4299	6500	SO:0001583	missense	5509	exon1			GGCCTGCGGGCCC	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9294	protein-coding gene	gene with protein product		603326	"protein phosphatase 1, regulatory (inhibitor) subunit 3D"	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.679G>A	20.37:g.58514308C>T	ENSP00000360035:p.Ala227Thr		83	0.0120481928	1		83	0.04	3	NM_006242	8	0	0	Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045423	0.36085	0.0	1.16E-4	ENSG00000132825	ENST00000370996	T	0.63417	-0.04	3.49	3.49	0.39957	Putative phosphatase regulatory subunit (2);	0.943478	0.08678	N	0.909851	T	0.54143	0.1840	L	0.33624	1.015	0.09310	N	1	D	0.58620	0.983	P	0.47299	0.543	T	0.33777	-0.9855	10	0.15066	T	0.55	-4.3168	10.4722	0.44644	0.0:0.8904:0.0:0.1096	.	227	O95685	PPR3D_HUMAN	T	227	ENSP00000360035:A227T	ENSP00000360035:A227T	A	-	1	0	PPP1R3D	57947703	0.957000	0.32711	0.027000	0.17364	0.202000	0.24057	5.500000	0.66943	2.257000	0.74773	0.462000	0.41574	GCA			0.692	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079940.2		NM_006242		T	58514308	C	T	58514308	3	4	24	1	0	0	0	0	1	0	0	0	12394	768	27	1	224	1	PPP1R3D	20	58514308	Missense_Mutation	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	932803	58514308	4511212	86	1604											
TCEA2	6919	mdanderson.org	37	chr20	62701120	62701120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctccctcttgcagatGaccacgtggccatcggtgcg	6	8	13	14	3	1	2	0	1	1	1	3	2	2	2	3	3	2	2	3	3	0	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr20:62701120G>T	ENST00000343484.5	+	6	632	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.D128Y|TCEA2_ENST00000395053.3_Missense_Mutation_p.D155Y	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	155	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCTTGCAGATGACCACGTGGC	0.607											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D155Y													.	.			0			c.G463T												101	94	96					20																	62701120		2203	4300	6503	SO:0001583	missense	6919	exon6			GCAGATGACCACG	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.463G>T	20.37:g.62701120G>T	ENSP00000343515:p.Asp155Tyr		65	0	0	1063	39	0.08	3	NM_003195	27	0	0	B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	37	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215826	0.79352	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000395053;ENST00000339217;ENST00000440819;ENST00000458442	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.41	4.41	0.53225	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.116362	0.56097	D	0.000023	T	0.72447	0.3461	M	0.84773	2.715	0.58432	D	0.999998	D;D;D;D	0.89917	0.997;0.997;0.999;1.0	D;D;D;D	0.87578	0.972;0.972;0.991;0.998	T	0.78957	-0.1999	10	0.72032	D	0.01	-6.5384	17.3761	0.87392	0.0:0.0:1.0:0.0	.	155;155;128;155	Q15560;Q6IB64;B3KNM1;Q86VL0	TCEA2_HUMAN;.;.;.	Y	128;155;155;128;128;128	ENSP00000354552:D128Y;ENSP00000343515:D155Y;ENSP00000378493:D155Y;ENSP00000339432:D128Y;ENSP00000407085:D128Y;ENSP00000416026:D128Y	ENSP00000339432:D128Y	D	+	1	0	TCEA2	62171564	1.000000	0.71417	0.892000	0.35008	0.885000	0.51271	6.457000	0.73505	2.156000	0.67533	0.655000	0.94253	GAC			0.607	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080277.2		NM_198723		T	62701120	G	T	62701120	3	4	24	1	0	0	0	0	1	0	0	0	15691	1290	45	3	485	3	TCEA2	20	62701120	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	4186812	62701120	324400	87	1605											
TTC3	7267	broad.mit.edu	37	chr21	38507753	38507753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttattggagcagcgttGccgcagcgctgcacaggcct	6	8	14	13	3	0	0	0	0	0	0	0	1	0	1	3	3	5	5	3	3	1	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr21:38507753G>T	ENST00000399017.2	+	18	4264	c.1517G>T	c.(1516-1518)tGc>tTc	p.C506F	TTC3_ENST00000355666.1_Missense_Mutation_p.C506F|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.C196F|TTC3_ENST00000354749.2_Missense_Mutation_p.C506F	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	506					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)				GAGCAGCGTTGCCGCAGCGCT	0.363																																					p.C506F	Ovarian(38;194 1649 35661)												.	TTC3	182		0			c.G1517T												59	60	60					21																	38507753		2203	4300	6503	SO:0001583	missense	7267	exon18			AGCGTTGCCGCAG	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.1517G>T	21.37:g.38507753G>T	ENSP00000381981:p.Cys506Phe		263	0.0038022814	1		333	0.01	4	NM_001001894	11	0	0	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335459	0.41398	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.49	4.59	0.56863	Tetratricopeptide-like helical (1);	0.249770	0.34555	N	0.003872	T	0.74183	0.3683	L	0.27053	0.805	0.41676	D	0.989263	B;D	0.76494	0.053;0.999	B;D	0.80764	0.047;0.994	T	0.71374	-0.4612	9	.	.	.	-14.0827	7.9892	0.30231	0.0824:0.0:0.7571:0.1605	.	196;506	B4DSZ9;P53804	.;TTC3_HUMAN	F	506;506;488;506;196;506;506	ENSP00000403943:C506F;ENSP00000408456:C506F;ENSP00000391891:C488F;ENSP00000347889:C506F;ENSP00000442875:C196F;ENSP00000381981:C506F;ENSP00000346791:C506F	.	C	+	2	0	TTC3	37429623	1.000000	0.71417	0.996000	0.52242	0.728000	0.41692	1.484000	0.35508	2.728000	0.93425	0.655000	0.94253	TGC			0.363	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194776.1				T	38507753	G	T	38507753	3	4	24	1	0	0	0	0	1	0	0	0	16721	1319	46	2	1583	2	TTC3	21	38507753	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10		38507753	9622142	88	1606											
CARD10	29775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	37891566	37891566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggctggagggcaggcatttCtcctgaacttctaggagctg	7	10	14	10	1	2	1	0	1	2	0	3	3	2	3	1	5	2	4	1	5	2	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr22:37891566C>T	ENST00000403299.1	-	16	2547	c.2331G>A	c.(2329-2331)gaG>gaA	p.E777E	CARD10_ENST00000406271.3_Silent_p.E491E|CARD10_ENST00000251973.5_Silent_p.E777E			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	777					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)					GCAGGCATTTCTCCTGAACTT	0.617																																					p.E777E													.	.			0			c.G2331A												39	39	39					22																	37891566		2203	4299	6502	SO:0001819	synonymous_variant	29775	exon15			GCATTTCTCCTGA	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.2331G>A	22.37:g.37891566C>T			59	0	0		62	0.26	16	NM_014550	48	0.31	15	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																					0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318997.1		NM_014550		T	37891566	C	T	37891566	2	4	24	1	0	0	0	0	0	0	0	1	2646	912	32	3		3	CARD10	22	37891566	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10		37891566	13413000	89	1607											
EFCAB6	64800	mdanderson.org	37	chr22	44079680	44079680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagtgatcttcagtgtGtctaaataactttgtgatga	11	14	10	6	1	3	4	1	3	2	1	3	4	3	4	0	0	1	1	0	0	3	4	rs137794	byFrequency	TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr22:44079680G>T	ENST00000262726.7	-	12	1451	c.1198C>A	c.(1198-1200)Cac>Aac	p.H400N	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.H248N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	400			H -> Y (in dbSNP:rs137794). {ECO:0000269|PubMed:14702039}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTTCAGTGTGTCTAAATAAC	0.353																																					p.H400N													.	.			0			c.C1198A												301	271	281					22																	44079680		2203	4300	6503	SO:0001583	missense	64800	exon12			CAGTGTGTCTAAA	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1198C>A	22.37:g.44079680G>T	ENSP00000262726:p.His400Asn		85	0	0		69	0.06	4	NM_022785	0		0	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	9.636	1.137711	0.21123	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15718	2.4;2.4	4.74	-0.573	0.11742	.	1.161790	0.06660	N	0.764303	T	0.17066	0.0410	L	0.50333	1.59	0.80722	P	0.0	D;P	0.54964	0.969;0.911	P;P	0.48400	0.576;0.575	T	0.27331	-1.0077	9	0.13108	T	0.6	-0.4667	3.4673	0.07554	0.3564:0.0:0.4715:0.1721	.	400;400	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	N	248;400	ENSP00000379533:H248N;ENSP00000262726:H400N	ENSP00000262726:H400N	H	-	1	0	EFCAB6	42411013	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.950000	0.29122	-0.083000	0.12618	-1.119000	0.02030	CAC			0.353	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353176.1		NM_022785		T	44079680	G	T	44079680	3	4	24	1	0	0	0	0	1	0	0	0	4944	1377	48	3	3391	3	EFCAB6	22	44079680	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	6188114	44079680	7224886	90	1608											
CELSR1	9620	broad.mit.edu	37	chr22	46804955	46804955	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaacgctgtcctccttccGggtccggaacatgagcccca	8	7	10	16	3	0	2	0	1	0	1	4	3	4	3	6	2	3	1	6	2	2	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chr22:46804955G>T	ENST00000262738.3	-	9	5163	c.5164C>A	c.(5164-5166)Cgg>Agg	p.R1722R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1722	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCTCCTTCCGGGTCCGGAAC	0.637																																					p.R1722R													.	CELSR1	242		0			c.C5164A												72	63	66					22																	46804955		2203	4300	6503	SO:0001819	synonymous_variant	9620	exon9			CCTTCCGGGTCCG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5164C>A	22.37:g.46804955G>T			101	0	0		126	0.03	4	NM_014246	5	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																					0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		T	46804955	G	T	46804955	2	4	24	1	0	0	0	0	0	0	0	1	3223	1115	39	1		1	CELSR1	22	46804955	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	2725275	46804955	4499611	91	1609											
PPP2R3B	28227	mdanderson.org	37	chrX	306965	306965	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgccggaccaggaccGgttcacggcgtagaagatcc	9	6	13	13	4	1	2	1	0	0	2	3	5	3	4	5	4	1	2	5	4	2	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chrX:306965G>T	ENST00000390665.3	-	6	841	c.823C>A	c.(823-825)Cgg>Agg	p.R275R		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	275					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACCAGGACCGGTTCACGGCG	0.716																																					p.R275R													.	.			0			c.C823A												18	27	24					X																	306965		1971	4114	6085	SO:0001819	synonymous_variant	28227	exon6			AGGACCGGTTCAC	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.823C>A	X.37:g.306965G>T			41	0	0		44	0.07	3	NM_013239	54	0	0	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	CCDS14104.1																																																																																					0.716	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055577.2		NM_013239		T	306965	G	T	306965	2	4	24	1	0	0	0	0	0	0	0	1	12409	1115	39	1		1	PPP2R3B	23	306965	Silent	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10		306965	154963595	92	1610											
NHS	4810	broad.mit.edu	37	chrX	17745674	17745674	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtccatcaacaagtctGaagaagttaagcaaaaagaa	19	8	8	6	0	2	3	1	1	1	2	3	3	3	3	1	1	2	2	1	1	9	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chrX:17745674G>T	ENST00000380060.3	+	6	3723	c.3385G>T	c.(3385-3387)Gaa>Taa	p.E1129*	NHS_ENST00000398097.3_Nonsense_Mutation_p.E973*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1150					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)					CAACAAGTCTGAAGAAGTTAA	0.438																																					p.E1129X													.	NHS	302		0			c.G3385T												101	100	100					X																	17745674		2203	4300	6503	SO:0001587	stop_gained	4810	exon6			AAGTCTGAAGAAG		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.3385G>T	X.37:g.17745674G>T	ENSP00000369400:p.Glu1129*		149	0	0		197	0.03	6	NM_198270	1	0	0	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	44	10.883283	0.99483	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.79	5.79	0.91817	.	0.602886	0.19979	N	0.101818	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-9.1014	12.4229	0.55529	0.0784:0.0:0.9216:0.0	.	.	.	.	X	1129;973;971	.	ENSP00000369397:E971X	E	+	1	0	NHS	17655595	1.000000	0.71417	0.895000	0.35142	0.834000	0.47266	3.883000	0.56168	2.444000	0.82710	0.544000	0.68410	GAA			0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059120.1		NM_198270		T	17745674	G	T	17745674	4	4	24	1	0	0	0	0	0	1	0	0	10428	1291	45	3	3512	3	NHS	23	17745674	Nonsense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	17438709	17745674	137524886	93	1611											
LANCL3	347404	broad.mit.edu	37	chrX	37431145	37431145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaccaagcgctgcttcGccaatcgcttcgatgactac	9	9	9	14	4	0	1	0	1	0	0	3	3	0	2	2	1	3	3	2	1	3	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chrX:37431145G>A	ENST00000378619.3	+	1	241	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	LANCL3_ENST00000378621.3_Missense_Mutation_p.A8T|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	8							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						GCGCTGCTTCGCCAATCGCTT	0.672																																					p.A8T													.	LANCL3	42		0			c.G22A												11	9	10					X																	37431145		2113	4103	6216	SO:0001583	missense	347404	exon1			TGCTTCGCCAATC	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.22G>A	X.37:g.37431145G>A	ENSP00000367882:p.Ala8Thr		46	0	0		62	0.05	3	NM_001170331	4	0	0	A6NHE3	Missense_Mutation	SNP	ENST00000378619.3	37	CCDS55398.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449308	0.26074	.	.	ENSG00000147036	ENST00000378621;ENST00000378619	.	.	.	4.3	2.43	0.29744	.	0.133886	0.48767	D	0.000162	T	0.28067	0.0692	N	0.11560	0.145	0.49483	D	0.999791	B;B	0.12630	0.003;0.006	B;B	0.09377	0.001;0.004	T	0.04333	-1.0959	9	0.21540	T	0.41	-5.9716	8.2212	0.31543	0.0896:0.2875:0.6229:0.0	.	8;8	Q6ZV70;Q6ZV70-2	LANC3_HUMAN;.	T	8	.	ENSP00000367882:A8T	A	+	1	0	LANCL3	37316064	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.021000	0.41020	0.797000	0.33971	0.476000	0.43555	GCC			0.672	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080885.1		NM_198511		A	37431145	G	A	37431145	3	1	24	1	0	0	0	0	1	0	0	0	8637	1087	38	1	24	1	LANCL3	23	37431145	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	19685471	37431145	117839415	94	1612											
USP11	8237	broad.mit.edu	37	chrX	47092516	47092516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcggtgactgaggataGagagccacagcacgaggagc	12	3	17	9	3	0	3	0	2	0	1	0	7	0	5	1	4	4	1	1	4	1	1			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chrX:47092516G>T	ENST00000218348.3	+	1	203	c.203G>T	c.(202-204)aGa>aTa	p.R68I	USP11_ENST00000377107.2_Missense_Mutation_p.R25I	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	68					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						acTGAGGATAGAGAGCCACAG	0.662																																					p.R68I													.	USP11	93		0			c.G203T												10	10	10					X																	47092516		2174	4265	6439	SO:0001583	missense	8237	exon1			AGGATAGAGAGCC	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.203G>T	X.37:g.47092516G>T	ENSP00000218348:p.Arg68Ile		74	0	0		72	0.04	3	NM_004651	12	0	0	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051470	0.36181	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21191	2.02;2.02	4.25	1.5	0.22942	.	1.710450	0.04139	N	0.319256	T	0.16041	0.0386	N	0.24115	0.695	0.09310	N	1	B	0.17268	0.021	B	0.17433	0.018	T	0.30238	-0.9985	10	0.44086	T	0.13	1.399	6.6759	0.23093	0.3373:0.0:0.6627:0.0	.	68	P51784	UBP11_HUMAN	I	25;68	ENSP00000366311:R25I;ENSP00000218348:R68I	ENSP00000218348:R68I	R	+	2	0	USP11	46977460	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.140000	0.10342	0.050000	0.15949	-0.281000	0.10026	AGA			0.662	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_004651		T	47092516	G	T	47092516	3	4	24	1	0	0	0	0	1	0	0	0	17066	942	33	3	205	3	USP11	23	47092516	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	9661371	47092516	108178044	95	1613											
PIM2	11040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48772441	48772441	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggaatggcagtgctggaTggctgccactacttggccaa	9	8	14	10	1	0	0	0	0	0	0	0	2	0	2	2	5	3	3	2	5	3	2			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chrX:48772441T>G	ENST00000376509.4	-	4	640	c.451A>C	c.(451-453)Atc>Ctc	p.I151L	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	151	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						CAGTGCTGGATGGCTGCCACT	0.552																																					p.I151L													.	.			0			c.A451C												60	49	53					X																	48772441		2203	4300	6503	SO:0001583	missense	11040	exon4			GCTGGATGGCTGC	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.451A>C	X.37:g.48772441T>G	ENSP00000365692:p.Ile151Leu		128	0	0		173	0.36	62	NM_006875	1386	0.5	691	A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621400	0.28889	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.06218	3.33;3.33	5.72	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170283	0.37906	N	0.001882	T	0.03434	0.0099	N	0.03177	-0.4	0.35939	D	0.83306	B	0.02656	0.0	B	0.12837	0.008	T	0.40608	-0.9554	10	0.37606	T	0.19	.	11.4137	0.49939	0.0:0.9025:0.0:0.0975	.	151	Q9P1W9	PIM2_HUMAN	L	151;39	ENSP00000365692:I151L;ENSP00000410960:I39L	ENSP00000365692:I151L	I	-	1	0	PIM2	48657385	0.991000	0.36638	0.265000	0.24526	0.471000	0.32888	2.891000	0.48617	1.054000	0.40438	-0.438000	0.05819	ATC			0.552	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060805.1				G	48772441	T	G	48772441	3	3	24	1	0	0	0	0	1	0	0	0	11945	1464	51	4	496	4	PIM2	23	48772441	Missense_Mutation	SNP	T	TCGA-2G-AAG9-01A-11D-A42Y-10	1679925	48772441	106498119	96	1614											
HEPH	9843	mdanderson.org	37	chrX	65428068	65428068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagaatctactactgtctGgccactggctgctgagcctg	7	11	11	12	0	2	2	0	1	2	1	2	2	2	2	2	2	4	3	2	2	4	3			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chrX:65428068G>T	ENST00000343002.2	+	14	3207	c.2543G>T	c.(2542-2544)tGg>tTg	p.W848L	HEPH_ENST00000519389.1_Missense_Mutation_p.W902L|HEPH_ENST00000374727.3_Missense_Mutation_p.W851L|HEPH_ENST00000419594.1_Missense_Mutation_p.W659L|HEPH_ENST00000441993.2_Missense_Mutation_p.W851L|HEPH_ENST00000336279.5_Missense_Mutation_p.W581L			Q9BQS7	HEPH_HUMAN	hephaestin	848	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ACTACTGTCTGGCCACTGGCT	0.468																																					p.W902L													.	.			0			c.G2705T												92	70	77					X																	65428068		2203	4300	6503	SO:0001583	missense	9843	exon15			CTGTCTGGCCACT	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2543G>T	X.37:g.65428068G>T	ENSP00000343939:p.Trp848Leu		38	0	0		45	0.07	3	NM_138737	20	0	0	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	g	0.017	-1.498071	0.01001	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99167	-5.17;-5.17;-5.17;-5.17;-5.17;-5.17;-5.51	4.83	1.52	0.23074	Cupredoxin (2);	1.188320	0.06171	N	0.677726	D	0.94866	0.8341	N	0.13235	0.315	0.09310	N	1	B;B;B;B	0.17465	0.0;0.0;0.022;0.002	B;B;B;B	0.14578	0.0;0.001;0.011;0.002	D	0.90638	0.4572	10	0.13470	T	0.59	.	2.0382	0.03544	0.2214:0.1603:0.4738:0.1445	.	902;248;659;848	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	L	902;851;581;851;659;848;805	ENSP00000430620:W902L;ENSP00000363859:W851L;ENSP00000337418:W581L;ENSP00000411687:W851L;ENSP00000413211:W659L;ENSP00000343939:W848L;ENSP00000398078:W805L	ENSP00000337418:W581L	W	+	2	0	HEPH	65344793	0.004000	0.15560	0.066000	0.19879	0.186000	0.23388	1.080000	0.30779	0.328000	0.23435	0.540000	0.68198	TGG			0.468	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000056995.1		NM_138737		T	65428068	G	T	65428068	3	4	24	1	0	0	0	0	1	0	0	0	7069	1357	47	3	2763	3	HEPH	23	65428068	Missense_Mutation	SNP	G	TCGA-2G-AAG9-01A-11D-A42Y-10	16655627	65428068	89842492	97	1615											
GPC3	2719	broad.mit.edu;bcgsc.ca	37	chrX	133119396	133119396	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtccggcggcggcggCgggggctgcgcctgtcccgg	0	5	22	14	8	0	0	0	0	0	0	2	0	2	0	3	8	1	1	3	8	0	0			TCGA-2G-AAG9-01A-11D-A42Y-10	TCGA-2G-AAG9-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db811a-0bfd-4074-a5a3-e9f33402c6cd	6ef662e1-31f7-4636-9d21-a5409c9d46b3	g.chrX:133119396C>G	ENST00000370818.3	-	1	526	c.81G>C	c.(79-81)ccG>ccC	p.P27P	GPC3_ENST00000543339.1_Silent_p.P27P|GPC3_ENST00000394299.2_Silent_p.P27P	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	27					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GCGGCGGCGGCGGGGGCTGCG	0.687			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.P27P			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3	88		0			c.G81C												14	14	14					X																	133119396		2189	4277	6466	SO:0001819	synonymous_variant	2719	exon1	Familial Cancer Database	SGBS	CGGCGGCGGGGGC	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.81G>C	X.37:g.133119396C>G			125	0.008	1		124	0.05	6	NM_001164617	1	0	0	C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	CCDS14638.1																																																																																					0.687	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058356.1		NM_004484		G	133119396	C	G	133119396	2	3	24	1	0	0	0	0	0	0	0	1	6613	755	27	5		5	GPC3	23	133119396	Silent	SNP	C	TCGA-2G-AAG9-01A-11D-A42Y-10	67691328	133119396	22151164	98	1616											
CELA2B	51032	broad.mit.edu	37	chr1	15813823	15813823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaggcatctgacggccGgtgggaggtgcatggcatcg	6	8	17	10	3	2	1	1	1	1	0	3	2	2	2	1	6	1	3	1	6	0	0	rs376020731		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr1:15813823G>A	ENST00000375910.3	+	7	708	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	228	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TCTGACGGCCGGTGGGAGGTG	0.597																																					p.R228Q													.	CELA2B	37		0			c.G683A							G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	108	105	106		683	0.9	0.1	1		106	0,8600		0,0,4300	no	missense	CELA2B	NM_015849.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	228/270	15813823	1,13005	2203	4300	6503	SO:0001583	missense	51032	exon7			ACGGCCGGTGGGA		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.683G>A	1.37:g.15813823G>A	ENSP00000365075:p.Arg228Gln		90	0	0		99	0.04	4	NM_015849	0		0	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204755	0.01568	2.27E-4	0.0	ENSG00000215704	ENST00000375910	D	0.93712	-3.27	4.73	0.903	0.19296	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.023360	0.07829	N	0.961114	D	0.87216	0.6122	L	0.49571	1.57	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.68432	-0.5410	10	0.10902	T	0.67	.	0.9564	0.01386	0.5078:0.1595:0.1782:0.1545	.	228	P08218	CEL2B_HUMAN	Q	228	ENSP00000365075:R228Q	ENSP00000365075:R228Q	R	+	2	0	CELA2B	15686410	0.000000	0.05858	0.050000	0.19076	0.019000	0.09904	-1.973000	0.01500	-0.037000	0.13646	-0.943000	0.02675	CGG			0.597	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006448.1		NM_015849		A	15813823	G	A	15813823	3	1	25	1	0	0	0	0	1	0	0	0	3214	1116	39	1	709	1	CELA2B	1	15813823	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		15813823	233436798	1	1617											
ASAP3	55616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	23763670	23763670	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcccaggcctgctcttcAcctccgcgatgagcagcttt	6	12	8	15	2	2	1	1	1	1	0	4	2	4	1	4	1	3	3	4	1	1	4			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr1:23763670A>G	ENST00000336689.3	-	14	1339	c.1295T>C	c.(1294-1296)gTg>gCg	p.V432A	ASAP3_ENST00000437606.2_Missense_Mutation_p.V423A|ASAP3_ENST00000495646.1_5'Flank	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	432	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCTGCTCTTCACCTCCGCGAT	0.716																																					p.V432A													.	.			0			c.T1295C												20	21	20					1																	23763670		2201	4299	6500	SO:0001583	missense	55616	exon14			CTCTTCACCTCCG	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1295T>C	1.37:g.23763670A>G	ENSP00000338769:p.Val432Ala		120	0	0		122	0.12	15	NM_017707	45	0.2	9	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	CCDS235.1	.	.	.	.	.	.	.	.	.	.	A	33	5.233890	0.95207	.	.	ENSG00000088280	ENST00000336689;ENST00000437606	T;T	0.46451	0.87;0.87	4.35	4.35	0.52113	.	0.185474	0.36444	N	0.002599	T	0.62307	0.2417	M	0.74467	2.265	0.39040	D	0.960102	D;D;P	0.64830	0.967;0.994;0.894	P;D;P	0.70227	0.645;0.968;0.627	T	0.69595	-0.5103	10	0.87932	D	0	.	12.7886	0.57520	1.0:0.0:0.0:0.0	.	423;301;432	Q8TDY4-3;B4DRP2;Q8TDY4	.;.;ASAP3_HUMAN	A	432;423	ENSP00000338769:V432A;ENSP00000408826:V423A	ENSP00000338769:V432A	V	-	2	0	ASAP3	23636257	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	5.615000	0.67702	1.954000	0.56735	0.391000	0.25812	GTG			0.716	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008916.2		NM_017707		G	23763670	A	G	23763670	3	3	25	1	0	0	0	0	1	0	0	0	1012	159	6	4	1464	4	ASAP3	1	23763670	Missense_Mutation	SNP	A	TCGA-2G-AAGA-01A-11D-A42Y-10	7949847	23763670	225486951	2	1618											
PDIK1L	149420	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	26441057	26441057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcaaaagatgtcccaCggctctaattcttcccttta	10	13	7	11	1	2	1	0	0	2	1	4	1	4	1	2	2	1	2	2	2	4	5	rs370757336		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr1:26441057C>G	ENST00000374271.4	+	3	545	c.258C>G	c.(256-258)caC>caG	p.H86Q	PDIK1L_ENST00000374269.1_Missense_Mutation_p.H86Q	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|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;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGTCCCACGGCTCTAATT	0.423																																					p.H86Q													.	.			0			c.C258G												126	125	125					1																	26441057		2203	4300	6503	SO:0001583	missense	149420	exon2			GTCCCACGGCTCT	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.258C>G	1.37:g.26441057C>G	ENSP00000363389:p.His86Gln		87	0	0		104	0.08	8	NM_001243532	6	0.17	1	B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	CCDS274.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021992	0.75275	.	.	ENSG00000175087	ENST00000444713;ENST00000374271;ENST00000374269	T;T;T	0.63255	0.22;-0.03;-0.03	6.02	-5.26	0.02772	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	0.51007	0.1649	L	0.41415	1.275	0.23862	N	0.996638	P	0.39883	0.693	B	0.41135	0.348	T	0.55398	-0.8147	10	0.62326	D	0.03	-9.6898	15.5397	0.76031	0.0:0.2163:0.0:0.7837	.	86	Q8N165	PDK1L_HUMAN	Q	86	ENSP00000406510:H86Q;ENSP00000363389:H86Q;ENSP00000363387:H86Q	ENSP00000363387:H86Q	H	+	3	2	PDIK1L	26313644	0.259000	0.24043	0.933000	0.37362	0.999000	0.98932	-0.461000	0.06712	-0.964000	0.03595	0.655000	0.94253	CAC			0.423	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019752.1		NM_152835		G	26441057	C	G	26441057	3	3	25	1	0	0	0	0	1	0	0	0	11690	535	19	5	260	5	PDIK1L	1	26441057	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	2677387	26441057	222809564	3	1619											
WDTC1	23038	broad.mit.edu	37	chr1	27632718	27632718	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtggaagatatggagggTgcttcacaggccaaccagcg	10	7	15	9	2	1	1	1	0	0	1	2	3	1	3	2	4	3	1	2	4	3	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr1:27632718T>G	ENST00000319394.3	+	16	2413	c.1878T>G	c.(1876-1878)ggT>ggG	p.G626G	WDTC1_ENST00000361771.3_Silent_p.G625G	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	626					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)		ATATGGAGGGTGCTTCACAGG	0.622																																					p.G626G													.	WDTC1	69		0			c.T1878G												95	81	86					1																	27632718		2203	4300	6503	SO:0001819	synonymous_variant	23038	exon16			GGAGGGTGCTTCA	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.1878T>G	1.37:g.27632718T>G			101	0.0594059406	6		110	0.09	10	NM_001276252	102	0.05	5	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37																																																																																						0.622	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015023		G	27632718	T	G	27632718	2	3	25	1	0	0	0	0	0	0	0	1	17366	1683	59	4		4	WDTC1	1	27632718	Silent	SNP	T	TCGA-2G-AAGA-01A-11D-A42Y-10	1191661	27632718	221617903	4	1620											
LRP8	7804	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	53724042	53724042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacattgtgtcaggacaggCacatgtgtacttgggagagt	10	10	13	8	0	1	1	1	0	0	1	1	3	1	2	1	3	1	2	1	3	1	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr1:53724042C>A	ENST00000306052.6	-	14	2259	c.2158G>T	c.(2158-2160)Gcc>Tcc	p.A720S	LRP8_ENST00000354412.3_Missense_Mutation_p.A591S|LRP8_ENST00000465675.1_Missense_Mutation_p.A273S|LRP8_ENST00000371454.2_Missense_Mutation_p.A720S|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Missense_Mutation_p.A550S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	720					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCAGGACAGGCACATGTGTAC	0.567																																					p.A720S													.	.			0			c.G2158T												156	134	142					1																	53724042		2203	4300	6503	SO:0001583	missense	7804	exon14			GACAGGCACATGT	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2158G>T	1.37:g.53724042C>A	ENSP00000303634:p.Ala720Ser		134	0	0		163	0.07	12	NM_004631	43	0.05	2	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648468	0.87958	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	5.35	5.35	0.76521	Growth factor, receptor (1);Epidermal growth factor-like (1);	.	.	.	.	D	0.90407	0.6997	M	0.65498	2.005	0.80722	D	1	D;D;P;D;B;D	0.69078	0.978;0.994;0.95;0.997;0.362;0.978	D;D;D;D;B;D	0.85130	0.914;0.995;0.975;0.997;0.28;0.914	D	0.89808	0.3980	9	0.45353	T	0.12	.	19.0618	0.93096	0.0:1.0:0.0:0.0	.	273;591;550;720;720;273	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	S	720;720;273;591;550	ENSP00000303634:A720S;ENSP00000360509:A720S;ENSP00000437009:A273S;ENSP00000346391:A591S;ENSP00000334522:A550S	ENSP00000303634:A720S	A	-	1	0	LRP8	53496630	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.747000	0.85070	2.497000	0.84241	0.563000	0.77884	GCC			0.567	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000024699.1		NM_004631		A	53724042	C	A	53724042	3	1	25	1	0	0	0	0	1	0	0	0	8979	710	25	2	757	2	LRP8	1	53724042	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	26091324	53724042	195526579	5	1621											
CELSR2	1952	mdanderson.org	37	chr1	109792751	109792751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacgccgccgccgccgcTgctgctgctgttgctgctgc	2	8	12	19	5	0	0	0	0	0	0	0	0	0	0	5	0	7	7	5	0	1	1	rs200277265		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr1:109792751T>C	ENST00000271332.3	+	1	111	c.50T>C	c.(49-51)cTg>cCg	p.L17P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	17					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ccgccgccgctgctgctgctg	0.751																																					p.L17P	NSCLC(158;1285 2011 34800 34852 42084)												CELSR2,colon,carcinoma,0,1	CELSR2	0	1	0			c.T50C												8	10	9					1																	109792751		1799	3668	5467	SO:0001583	missense	1952	exon1			CGCCGCTGCTGCT	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.50T>C	1.37:g.109792751T>C	ENSP00000271332:p.Leu17Pro		33	0	0		48	0.06	3	NM_001408	1	0	0	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	5.977	0.364215	0.11296	.	.	ENSG00000143126	ENST00000271332	T	0.70631	-0.5	4.25	-3.77	0.04346	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	8	0.51188	T	0.08	.	1.1702	0.01823	0.161:0.339:0.1649:0.3351	.	17	Q9HCU4	CELR2_HUMAN	P	17	ENSP00000271332:L17P	ENSP00000271332:L17P	L	+	2	0	CELSR2	109594274	0.000000	0.05858	0.003000	0.11579	0.062000	0.15995	-0.618000	0.05578	-0.422000	0.07405	0.404000	0.27445	CTG			0.751	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033200.1		NM_001408		C	109792751	T	C	109792751	3	2	25	1	0	0	0	0	1	0	0	0	3224	1580	55	4	52	4	CELSR2	1	109792751	Missense_Mutation	SNP	T	TCGA-2G-AAGA-01A-11D-A42Y-10	56068709	109792751	139457870	6	1622											
ANKRD35	148741	broad.mit.edu	37	chr1	145560171	145560171	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggctgtggacagcacaggGcatgatgctctgcactatgc	8	8	15	10	0	1	1	0	1	1	0	1	2	1	2	0	4	4	5	0	4	1	1			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr1:145560171G>T	ENST00000355594.4	+	8	744	c.657G>T	c.(655-657)ggG>ggT	p.G219G	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	219										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)					ACAGCACAGGGCATGATGCTC	0.632																																					p.G219G	Melanoma(9;127 754 22988 51047)												.	ANKRD35	96		0			c.G657T												76	70	72					1																	145560171		2203	4300	6503	SO:0001819	synonymous_variant	148741	exon8			CACAGGGCATGAT	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.657G>T	1.37:g.145560171G>T			184	0	0		153	0.03	4	NM_144698	0		0	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	CCDS919.1																																																																																					0.632	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000038515.1		NM_144698		T	145560171	G	T	145560171	2	4	25	1	0	0	0	0	0	0	0	1	664	1190	42	2		2	ANKRD35	1	145560171	Silent	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	35767420	145560171	103690450	7	1623											
CR1	1378	broad.mit.edu	37	chr1	207751340	207751340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcaagtgggcatctggagCggccccgcccctcagtgcat	7	7	13	14	2	3	0	2	0	1	0	3	2	3	1	4	3	2	2	4	3	1	0	rs113578474	byFrequency	TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr1:207751340C>G	ENST00000367049.4	+	29	4728	c.4728C>G	c.(4726-4728)agC>agG	p.S1576R	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.S1126R|CR1_ENST00000367051.1_Missense_Mutation_p.S1126R|CR1_ENST00000367053.1_Missense_Mutation_p.S1126R|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.S1126R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1126	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCATCTGGAGCGGCCCCGCCC	0.483																																					p.S1576R													.	CR1	354		0			c.C4728G												89	87	88					1																	207751340		1824	4046	5870	SO:0001583	missense	1378	exon29			CTGGAGCGGCCCC	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4728C>G	1.37:g.207751340C>G	ENSP00000356016:p.Ser1576Arg		487	0.0020533881	1		401	0.01	5	NM_000651	0		0	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	T	9.594	1.126946	0.20959	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	3.5	-2.44	0.06502	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.81716	0.4881	M	0.89715	3.055	0.23510	N	0.997528	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.979;0.999;0.998	T	0.73151	-0.4073	9	0.72032	D	0.01	.	9.5893	0.39537	0.0:0.4942:0.0:0.5058	.	1126;1126;1576	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	R	1126;1126;1126;1126;676;1576	ENSP00000356019:S1126R;ENSP00000356018:S1126R;ENSP00000356020:S1126R;ENSP00000383744:S1126R;ENSP00000436139:S676R;ENSP00000356016:S1576R	ENSP00000356016:S1576R	S	+	3	2	CR1	205817963	0.000000	0.05858	0.791000	0.31998	0.034000	0.12701	-2.057000	0.01395	-1.102000	0.03023	-2.225000	0.00294	AGC			0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382527.1		NM_000573		G	207751340	C	G	207751340	3	3	25	1	0	0	0	0	1	0	0	0	3842	767	27	5	4842	5	CR1	1	207751340	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	62191169	207751340	41499281	8	1624											
APOB	338	mdanderson.org	37	chr2	21234845	21234845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactattaattttgtcagtgCctaagatgtcagcatttaac	12	15	6	8	0	2	1	2	0	0	1	2	1	2	1	1	0	3	1	1	0	4	7			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr2:21234845C>G	ENST00000233242.1	-	26	5022	c.4895G>C	c.(4894-4896)gGc>gCc	p.G1632A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1632					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)					TTTGTCAGTGCCTAAGATGTC	0.438																																					p.G1632A													.	.			0			c.G4895C												86	79	81					2																	21234845		2203	4300	6503	SO:0001583	missense	338	exon26			TCAGTGCCTAAGA	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.4895G>C	2.37:g.21234845C>G	ENSP00000233242:p.Gly1632Ala		47	0	0		49	0.06	3	NM_000384	0		0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693332	0.15039	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00669	5.9	6.07	6.07	0.98685	.	0.214936	0.33144	N	0.005228	T	0.00906	0.0030	L	0.54323	1.7	0.80722	D	1	B	0.32829	0.386	B	0.31495	0.131	T	0.53788	-0.8389	10	0.02654	T	1	.	10.1952	0.43049	0.2383:0.6427:0.119:0.0	.	1632	P04114	APOB_HUMAN	A	1632	ENSP00000233242:G1632A	ENSP00000233242:G1632A	G	-	2	0	APOB	21088350	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	0.140000	0.16056	2.890000	0.99128	0.650000	0.86243	GGC			0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1				G	21234845	C	G	21234845	3	3	25	1	0	0	0	0	1	0	0	0	785	739	26	5	8812	5	APOB	2	21234845	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10		21234845	221964528	9	1625											
KLRAQ1	129285	broad.mit.edu	37	chr2	48698417	48698417	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaattatttttcttttccaGgagacaactgtgaaattgaa	14	15	7	5	0	1	3	0	2	1	1	2	5	2	3	1	1	1	0	1	1	5	6			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr2:48698417G>T	ENST00000294952.8	+	11	1156		c.e11-1		PPP1R21_ENST00000281394.4_Splice_Site|PPP1R21_ENST00000449090.2_Splice_Site	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21							membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTCTTTTCCAGGAGACAACTG	0.358																																					.													.	PPP1R21	47		0			c.1000-1G>T												72	84	80					2																	48698417		2200	4298	6498	SO:0001630	splice_region_variant	129285	exon11			TTTCCAGGAGACA	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.1000-1G>T	2.37:g.48698417G>T			298	0.0033557047	1		308	0.02	5	NM_001135629	1	0	0	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Splice_Site	SNP	ENST00000294952.8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282573	0.59867	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.59	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9286	0.86183	0.0:0.1279:0.8721:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLRAQ1	48551921	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	8.894000	0.92506	1.488000	0.48433	0.561000	0.74099	.			0.358	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251238.4		NM_152994	Intron	T	48698417	G	T	48698417	5	4	25	1	0	0	0	0	0	0	1	0	8428	1014	35	3	1041	3	KLRAQ1	2	48698417	Splice_Site	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	27463572	48698417	194500956	10	1626											
RIF1	55183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152320914	152320914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacaagatgaaagtaataCtgtaatatgtcaggattcta	19	11	7	4	0	2	2	1	1	1	1	2	3	2	3	0	1	2	2	0	1	9	6			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr2:152320914C>G	ENST00000243326.5	+	29	5363	c.4880C>G	c.(4879-4881)aCt>aGt	p.T1627S	RIF1_ENST00000428287.2_Missense_Mutation_p.T1627S|RIF1_ENST00000430328.2_Missense_Mutation_p.T1627S|RIF1_ENST00000444746.2_Missense_Mutation_p.T1627S|RIF1_ENST00000453091.2_Missense_Mutation_p.T1627S			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)		GAAAGTAATACTGTAATATGT	0.318																																					p.T1627S													.	.			0			c.C4880G												48	48	48					2																	152320914		2203	4300	6503	SO:0001583	missense	55183	exon30			GTAATACTGTAAT	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.4880C>G	2.37:g.152320914C>G	ENSP00000243326:p.Thr1627Ser		112	0	0		88	0.27	24	NM_018151	70	0.31	22	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.559004	0.00136	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98	5.26	4.36	0.52297	.	1.078580	0.07001	N	0.823290	T	0.06371	0.0164	N	0.12182	0.205	0.20821	N	0.999848	B;B	0.15141	0.007;0.012	B;B	0.09377	0.002;0.004	T	0.42582	-0.9443	10	0.15952	T	0.53	-1.5529	5.9609	0.19299	0.0:0.6736:0.1939:0.1326	.	1627;1627	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	S	1627	ENSP00000390181:T1627S;ENSP00000414615:T1627S;ENSP00000415691:T1627S;ENSP00000243326:T1627S;ENSP00000416123:T1627S	ENSP00000243326:T1627S	T	+	2	0	RIF1	152029160	0.000000	0.05858	0.008000	0.14137	0.032000	0.12392	-1.222000	0.02965	1.158000	0.42547	0.557000	0.71058	ACT			0.318	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254836.3				G	152320914	C	G	152320914	3	3	25	1	0	0	0	0	1	0	0	0	13382	565	20	5	4994	5	RIF1	2	152320914	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	103622497	152320914	90878459	11	1627											
NUP210	23225	broad.mit.edu	37	chr3	13395547	13395547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagttgtcgaaccggcGgccctcctggtcgtaagcag	7	8	14	12	4	0	1	0	1	0	0	3	2	1	1	3	3	2	4	3	3	3	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr3:13395547G>A	ENST00000254508.5	-	17	2471	c.2389C>T	c.(2389-2391)Cgc>Tgc	p.R797C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	797					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCGAACCGGCGGCCCTCCTGG	0.642																																					p.R797C													.	NUP210	182		0			c.C2389T												24	20	21					3																	13395547		2203	4298	6501	SO:0001583	missense	23225	exon17			ACCGGCGGCCCTC	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2389C>T	3.37:g.13395547G>A	ENSP00000254508:p.Arg797Cys		173	0	0		130	0.03	4	NM_024923	27	0	0	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553276	0.86127	.	.	ENSG00000132182	ENST00000254508	T	0.26067	1.76	5.53	5.53	0.82687	.	0.155567	0.47852	D	0.000219	T	0.47040	0.1424	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.62014	0.897;0.791	T	0.44697	-0.9311	10	0.87932	D	0	-21.7297	15.1885	0.73023	0.0:0.0:0.8504:0.1496	.	797;797	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	C	797	ENSP00000254508:R797C	ENSP00000254508:R797C	R	-	1	0	NUP210	13370547	1.000000	0.71417	0.990000	0.47175	0.971000	0.66376	4.868000	0.63021	2.606000	0.88127	0.563000	0.77884	CGC			0.642	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340085.1		NM_024923		A	13395547	G	A	13395547	3	1	25	1	0	0	0	0	1	0	0	0	10777	1116	39	1	3370	1	NUP210	3	13395547	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		13395547	184626883	12	1628											
COPG	22820	broad.mit.edu	37	chr3	128973510	128973510	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgccttcttccctgcaGcctaacaaaagacatgactg	13	9	6	13	0	1	2	0	1	1	1	2	2	2	2	3	0	4	1	3	0	4	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr3:128973510G>T	ENST00000314797.6	+	6	427		c.e6-1			NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1						COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										CTTCCCTGCAGCCTAACAAAA	0.582																																					.													.	.			0			c.324-1G>T												52	54	53					3																	128973510		2203	4300	6503	SO:0001630	splice_region_variant	22820	exon6			CCTGCAGCCTAAC	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.324-1G>T	3.37:g.128973510G>T			60	0	0		52	0.06	3	NM_016128	14	0	0	A8K6M8|B3KMF6|Q54AC4	Splice_Site	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355858	0.61293	.	.	ENSG00000181789	ENST00000314797	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3755	0.66869	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COPG	130456200	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	9.508000	0.98000	2.255000	0.74692	0.591000	0.81541	.			0.582	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355456.1		NM_016128	Intron	T	128973510	G	T	128973510	5	4	25	1	0	0	0	0	0	0	1	0	3733	985	34	2	345	2	COPG	3	128973510	Splice_Site	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	115577963	128973510	69048920	13	1629											
RGS12	6002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	3319118	3319118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccgcgcctttctggaCggggacgccgatgcccacca	5	5	14	17	6	1	0	0	0	1	0	1	3	1	2	5	4	1	0	5	4	0	1	rs372019148		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr4:3319118C>T	ENST00000344733.5	+	2	2125	c.1221C>T	c.(1219-1221)gaC>gaT	p.D407D	RGS12_ENST00000336727.3_Silent_p.D407D|RGS12_ENST00000382788.3_Silent_p.D407D|RGS12_ENST00000543385.1_Silent_p.D407D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	407					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)		CCTTTCTGGACGGGGACGCCG	0.617																																					p.D407D													.	.			0			c.C1221T							C	,	0,4406		0,0,2203	59	63	62		1221,1221	-5	0.3	4		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS12	NM_002926.3,NM_198229.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	407/1377,407/1448	3319118	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6002	exon2			TCTGGACGGGGAC	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.1221C>T	4.37:g.3319118C>T			113	0	0		57	0.25	14	NM_002926	4	0.25	1	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	CCDS3366.1																																																																																					0.617	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000206602.1		NM_002926		T	3319118	C	T	3319118	2	4	25	1	0	0	0	0	0	0	0	1	13318	535	19	1		1	RGS12	4	3319118	Silent	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10		3319118	187835158	14	1630											
PACRGL	133015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	20706400	20706400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaagaaaacttcatcctaGaccaagtgataaactgaacc	17	8	6	10	0	1	4	1	2	0	2	2	4	2	4	3	0	4	1	3	0	8	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr4:20706400G>C	ENST00000503585.1	+	3	561	c.170G>C	c.(169-171)aGa>aCa	p.R57T	PACRGL_ENST00000360916.5_Missense_Mutation_p.R57T|PACRGL_ENST00000507634.1_Missense_Mutation_p.R57T|PACRGL_ENST00000502374.1_Missense_Mutation_p.R57T|PACRGL_ENST00000513459.1_Missense_Mutation_p.R57T|PACRGL_ENST00000444671.2_Missense_Mutation_p.R57T|PACRGL_ENST00000502938.1_Missense_Mutation_p.R57T|PACRGL_ENST00000295290.8_Missense_Mutation_p.R57T|PACRGL_ENST00000538990.1_Missense_Mutation_p.R57T	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	57										endometrium(2)|lung(7)|prostate(1)	10						CTTCATCCTAGACCAAGTGAT	0.388																																					p.R57T													.	.			0			c.G170C												125	119	121					4																	20706400		2203	4300	6503	SO:0001583	missense	133015	exon3			ATCCTAGACCAAG	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 28"	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.170G>C	4.37:g.20706400G>C	ENSP00000423881:p.Arg57Thr		220	0	0		126	0.25	32	NM_001258345	38	0.26	10	B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101411	0.76983	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000444671;ENST00000506745;ENST00000514663;ENST00000509469;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000504630;ENST00000513590;ENST00000514292;ENST00000502938;ENST00000507634;ENST00000513459;ENST00000511089	.	.	.	5.56	5.56	0.83823	.	0.092812	0.43416	D	0.000570	T	0.67059	0.2853	M	0.62723	1.935	0.33400	D	0.577183	D;P;D;D;D;P	0.76494	0.992;0.745;0.984;0.999;0.993;0.9	P;P;P;D;P;P	0.69479	0.864;0.529;0.835;0.964;0.738;0.72	T	0.72574	-0.4252	9	0.35671	T	0.21	-14.7063	13.5974	0.61998	0.0806:0.0:0.9194:0.0	.	57;57;105;57;57;57	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	T	105;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57	.	ENSP00000295290:R57T	R	+	2	0	PACRGL	20315498	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.950000	0.56676	2.778000	0.95560	0.655000	0.94253	AGA			0.388	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360321.2		NM_145048		C	20706400	G	C	20706400	3	2	25	1	0	0	0	0	1	0	0	0	11388	942	33	5	176	5	PACRGL	4	20706400	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	17387282	20706400	170447876	15	1631											
KCTD8	386617	broad.mit.edu	37	chr4	44177058	44177058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttttttagaggggcGatccaatgttaaagtgttag	10	14	13	4	1	0	1	0	0	0	1	1	2	1	1	1	3	1	3	1	3	5	5	rs549391615		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr4:44177058G>T	ENST00000360029.3	-	2	1454	c.1171C>A	c.(1171-1173)Cgc>Agc	p.R391S		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	391					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGAGGGGCGATCCAATGTT	0.507										HNSCC(17;0.042)																											p.R391S													KCTD8,caecum,carcinoma,+1,1	KCTD8	96	1	0			c.C1171A												165	164	164					4																	44177058		2203	4300	6503	SO:0001583	missense	386617	exon2			AGGGGCGATCCAA	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1171C>A	4.37:g.44177058G>T	ENSP00000353129:p.Arg391Ser		120	0	0		107	0.04	4	NM_198353	0		0	A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849512	0.32699	.	.	ENSG00000183783	ENST00000360029	T	0.40476	1.03	4.56	3.68	0.42216	.	0.000000	0.46758	D	0.000275	T	0.41880	0.1178	L	0.36672	1.1	0.38039	D	0.935411	P	0.50272	0.933	P	0.49226	0.603	T	0.51004	-0.8760	10	0.87932	D	0	.	12.9862	0.58594	0.0:0.0:0.8317:0.1682	.	391	Q6ZWB6	KCTD8_HUMAN	S	391	ENSP00000353129:R391S	ENSP00000353129:R391S	R	-	1	0	KCTD8	43871815	1.000000	0.71417	0.995000	0.50966	0.196000	0.23810	3.014000	0.49590	1.202000	0.43218	0.650000	0.86243	CGC			0.507	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216868.1				T	44177058	G	T	44177058	3	4	25	1	0	0	0	0	1	0	0	0	8130	1058	37	1	254	1	KCTD8	4	44177058	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	23470658	44177058	146977218	16	1632											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006429	118006429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggatgcttctgctgttccctCgaacacaagccccagcagga	9	8	10	14	1	1	0	0	0	1	0	3	3	2	2	3	2	5	4	3	2	2	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr4:118006429C>G	ENST00000310754.4	-	1	307	c.121G>C	c.(121-123)Gag>Cag	p.E41Q		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	41					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GCTGTTCCCTCGAACACAAGC	0.547																																					p.E41Q													.	TRAM1L1	55		0			c.G121C												71	64	66					4																	118006429		2203	4300	6503	SO:0001583	missense	133022	exon1			TTCCCTCGAACAC	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.121G>C	4.37:g.118006429C>G	ENSP00000309402:p.Glu41Gln		126	0	0		94	0.04	4	NM_152402	8	0	0	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186778	0.38609	.	.	ENSG00000174599	ENST00000310754	T	0.43688	0.94	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	L	0.34521	1.04	0.80722	D	1	B	0.28178	0.202	B	0.30782	0.12	T	0.06232	-1.0838	10	0.12766	T	0.61	5.9967	14.426	0.67215	0.0:1.0:0.0:0.0	.	41	Q8N609	TR1L1_HUMAN	Q	41	ENSP00000309402:E41Q	ENSP00000309402:E41Q	E	-	1	0	TRAM1L1	118225877	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.797000	0.75150	2.512000	0.84698	0.655000	0.94253	GAG			0.547	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256513.1		NM_152402		G	118006429	C	G	118006429	3	3	25	1	0	0	0	0	1	0	0	0	16476	893	31	5	992	5	TRAM1L1	4	118006429	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	73829371	118006429	73147847	17	1633											
BBS7	55212	mdanderson.org	37	chr4	122770033	122770033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgatttcatcatagctGtcttttcctacacaaccacc	11	12	3	15	1	3	0	2	0	1	0	4	1	4	0	4	0	3	1	4	0	3	5			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr4:122770033G>T	ENST00000264499.4	-	9	1083	c.900C>A	c.(898-900)gaC>gaA	p.D300E	BBS7_ENST00000506636.1_Missense_Mutation_p.D300E	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	300					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATCATAGCTGTCTTTTCCTA	0.323									Bardet-Biedl syndrome																												p.D300E													.	.			0			c.C900A												123	122	122					4																	122770033		2203	4300	6503	SO:0001583	missense	55212	exon9	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ATAGCTGTCTTTT	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.900C>A	4.37:g.122770033G>T	ENSP00000264499:p.Asp300Glu		79	0	0		39	0.08	3	NM_018190	15	0	0	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	0.118	-1.128844	0.01756	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.75050	-0.9;-0.9	5.45	-1.3	0.09259	WD40 repeat-like-containing domain (1);	0.103806	0.64402	D	0.000003	T	0.50360	0.1611	N	0.21583	0.68	0.45822	D	0.998697	B	0.06786	0.001	B	0.09377	0.004	T	0.08371	-1.0725	10	0.19590	T	0.45	-12.6596	4.5703	0.12207	0.3908:0.0:0.3607:0.2485	.	300	Q8IWZ6	BBS7_HUMAN	E	300	ENSP00000264499:D300E;ENSP00000423626:D300E	ENSP00000264499:D300E	D	-	3	2	BBS7	122989483	0.726000	0.28059	0.974000	0.42286	0.279000	0.26890	0.000000	0.12993	-0.453000	0.07076	-0.469000	0.05056	GAC			0.323	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256716.1				T	122770033	G	T	122770033	3	4	25	1	0	0	0	0	1	0	0	0	1341	1368	48	3	1296	3	BBS7	4	122770033	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	4763604	122770033	68384243	18	1634											
SDHA	6389	bcgsc.ca	37	chr5	236628	236628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgcctcggtacatggtgCcaaccgcctcggggcaaact	7	8	12	14	3	0	0	0	0	0	0	2	0	0	0	4	4	5	2	4	4	3	1	rs201139275	byFrequency	TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr5:236628C>T	ENST00000264932.6	+	10	1461	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	SDHA_ENST00000504309.1_Missense_Mutation_p.A449V|SDHA_ENST00000510361.1_Missense_Mutation_p.A401V	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	449					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTACATGGTGCCAACCGCCTC	0.592									Familial Paragangliomas				C|||	9	0.00179712	0.003	0.0014	5008	,	,		17830	0.002		0.001	False		,,,				2504	0.001				p.A449V													.	SDHA	80		0			c.C1346T												81	74	77					5																	236628		2203	4300	6503	SO:0001583	missense	6389	exon10	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	ATGGTGCCAACCG	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1346C>T	5.37:g.236628C>T	ENSP00000264932:p.Ala449Val		150	0.0133333333	2		101	0.09	9	NM_004168	215	0	0	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	21.6|21.6	4.176378|4.176378	0.78564|0.78564	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361|ENST00000515815	T;T;T|.	0.70986|.	-0.53;-0.53;-0.53|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);|.	0.142014|.	0.46758|.	U|.	0.000265|.	D|D	0.92519|0.92519	0.7624|0.7624	H|H	0.99971|0.99971	5.125|5.125	0.80722|0.80722	D|D	1|1	D;D;P;P;D|.	0.63046|.	0.96;0.992;0.881;0.955;0.99|.	P;P;P;P;P|.	0.54924|.	0.764;0.675;0.448;0.548;0.585|.	D|D	0.96100|0.96100	0.9068|0.9068	10|5	0.87932|.	D|.	0|.	.|.	15.9089|15.9089	0.79456|0.79456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	401;449;43;449;449|.	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040|.	.;.;.;.;DHSA_HUMAN|.	V|S	449;304;449;401|1	ENSP00000264932:A449V;ENSP00000426514:A449V;ENSP00000427703:A401V|.	ENSP00000264932:A449V|.	A|P	+|+	2|1	0|0	SDHA|SDHA	289628|289628	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.230000|0.230000	0.25150|0.25150	5.793000|5.793000	0.69060|0.69060	2.411000|2.411000	0.81874|0.81874	0.650000|0.650000	0.86243|0.86243	GCC|CCA			0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206599.1		NM_004168		T	236628	C	T	236628	3	4	25	1	0	0	0	0	1	0	0	0	13986	739	26	2	1384	2	SDHA	5	236628	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10		236628	180678632	19	1635											
HSPA9	3313	hgsc.bcm.edu;ucsc.edu	37	chr5	137902698	137902699	+	Missense_Mutation	DNP	TG	TG	GT																															ttggtaactcacctctctctTgaactccttcacaatgtgcc																								rs202180095|rs199831172		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	TG	TG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr5:137902698_137902699TG>GT	ENST00000297185.3	-	8	995_996	c.870_871CA>AC	c.(868-873)ttCAag>ttACag	p.290_291FK>LQ	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	290					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCTCTCTCTTGAACTCCTTCA	0.416																																					p.FK290LQ													.	.			0			c.C870A																																									SO:0001583	missense	3313	exon8			CTCTCTTGAACTC	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.870_871delinsGT	5.37:g.137902698_137902699delinsGT	ENSP00000297185:p.F290_K291delinsLQ		228	0	0		247	0.12	29	NM_004134	1445	0	0	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	DNP	ENST00000297185.3	37	CCDS4208.1																																																																																			0.001		0.416	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251285.1		NM_004134		GT	137902699	TG	GT	137902698	3	3	25	1	0	0	0	0	1	0	0	0	7432	1821	63	4	1208	4	HSPA9	5	137902698	Missense_Mutation	DNP	TG	TCGA-2G-AAGA-01A-11D-A42Y-10	137666070	137902698	43012562	20	1636											
ZNF346	23567	mdanderson.org	37	chr5	176449808	176449808	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgggccttacagcagctcGgagttgctggagggccagga	7	6	17	11	2	0	0	0	0	0	0	1	3	0	3	3	5	4	4	3	5	1	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr5:176449808G>T	ENST00000358149.3	+	1	112	c.69G>T	c.(67-69)tcG>tcT	p.S23S	ZNF346_ENST00000503039.1_Silent_p.S23S|ZNF346_ENST00000512315.1_Silent_p.S23S|ZNF346_ENST00000503425.1_Silent_p.S23S|ZNF346_ENST00000511834.1_Silent_p.S23S|ZNF346_ENST00000506693.1_Silent_p.S23S|ZNF346_ENST00000261948.4_Silent_p.S23S	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	23					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)			ACAGCAGCTCGGAGTTGCTGG	0.721																																					p.S23S													.	.			0			c.G69T												6	8	7					5																	176449808		2075	4043	6118	SO:0001819	synonymous_variant	23567	exon1			CAGCTCGGAGTTG	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.69G>T	5.37:g.176449808G>T			16	0	0		21	0.1	2	NM_012279	14	0	0	B7Z367|Q68CV9|Q6ZMW1	Silent	SNP	ENST00000358149.3	37	CCDS4409.1																																																																																					0.721	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253415.2		NM_012279		T	176449808	G	T	176449808	2	4	25	1	0	0	0	0	0	0	0	1	17883	1103	39	1		1	ZNF346	5	176449808	Silent	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	38547110	176449808	4465452	21	1637											
SQSTM1	8878	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	179250972	179250972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgtggtaggaacccGctacaagtgcagcgtctgcc	7	8	14	12	2	1	0	0	0	1	0	1	1	1	1	3	3	5	3	3	3	4	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr5:179250972G>A	ENST00000389805.4	+	3	594	c.416G>A	c.(415-417)cGc>cAc	p.R139H	SQSTM1_ENST00000402874.3_Missense_Mutation_p.R55H|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R55H|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R55H|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R139H	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	139	Interaction with GABRR3. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTAGGAACCCGCTACAAGTGC	0.647																																					p.R139H													.	SQSTM1	30		0			c.G416A												79	74	76					5																	179250972		2203	4300	6503	SO:0001583	missense	8878	exon3			GAACCCGCTACAA	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.416G>A	5.37:g.179250972G>A	ENSP00000374455:p.Arg139His		59	0	0		64	0.08	5	NM_003900	371	0	1	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743720	0.69418	.	.	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000422245;ENST00000389805;ENST00000504627;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	5.59	2.78	0.32641	Zinc finger, ZZ-type (4);	0.054467	0.64402	N	0.000001	D	0.98617	0.9537	H	0.97758	4.07	0.53688	D	0.999979	D;D	0.89917	1.0;0.973	D;P	0.97110	1.0;0.512	D	0.98076	1.0401	10	0.87932	D	0	-30.9191	10.872	0.46889	0.0664:0.2449:0.6887:0.0	.	139;139	Q13501;E7EMC7	SQSTM_HUMAN;.	H	55;55;55;139;162;55;139;55	ENSP00000366128:R55H;ENSP00000427308:R55H;ENSP00000394534:R55H;ENSP00000374455:R139H;ENSP00000425957:R162H;ENSP00000385553:R55H;ENSP00000424477:R139H;ENSP00000353944:R55H	ENSP00000353944:R55H	R	+	2	0	SQSTM1	179183578	1.000000	0.71417	0.992000	0.48379	0.315000	0.28087	9.622000	0.98378	0.287000	0.22375	-0.258000	0.10820	CGC			0.647	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319344.1				A	179250972	G	A	179250972	3	1	25	1	0	0	0	0	1	0	0	0	15153	1087	38	1	426	1	SQSTM1	5	179250972	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	2801164	179250972	1664288	22	1638											
TTBK1	84630	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	43230837	43230837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagctgcggccactgcccGaggagggcgaagagcggcgg	8	2	20	11	5	0	1	0	0	0	1	0	5	0	3	2	6	4	1	2	6	1	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr6:43230837G>A	ENST00000259750.4	+	13	1818	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	TTBK1_ENST00000304139.5_Missense_Mutation_p.E528K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	579					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCCACTGCCCGAGGAGGGCGA	0.711																																					p.E579K													.	.			0			c.G1735A												14	13	13					6																	43230837		2123	4156	6279	SO:0001583	missense	84630	exon13			CTGCCCGAGGAGG	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1735G>A	6.37:g.43230837G>A	ENSP00000259750:p.Glu579Lys		106	0	0		130	0.06	8	NM_032538	0		0	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576260	0.65878	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.27557	1.66	5.48	5.48	0.80851	.	0.111999	0.64402	D	0.000013	T	0.13543	0.0328	L	0.40543	1.245	0.38117	D	0.937752	P;P	0.46020	0.82;0.871	B;B	0.30495	0.116;0.078	T	0.08046	-1.0741	10	0.72032	D	0.01	.	16.2562	0.82517	0.0:0.0:1.0:0.0	.	102;579	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	K	528;579;528	ENSP00000259750:E579K	ENSP00000259750:E579K	E	+	1	0	TTBK1	43338815	1.000000	0.71417	0.996000	0.52242	0.725000	0.41563	7.504000	0.81646	2.580000	0.87095	0.555000	0.69702	GAG			0.711	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040584.3				A	43230837	G	A	43230837	3	1	25	1	0	0	0	0	1	0	0	0	16700	1059	37	1	1781	1	TTBK1	6	43230837	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		43230837	127884230	23	1639											
FBXL4	26235	broad.mit.edu	37	chr6	99323347	99323347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaattcatcaatgtctGtgtcacacacagatctatta	13	13	5	10	0	5	1	3	0	2	1	5	1	5	1	1	0	1	0	1	0	4	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr6:99323347G>T	ENST00000369244.2	-	9	2074	c.1646C>A	c.(1645-1647)aCa>aAa	p.T549K	FBXL4_ENST00000229971.1_Missense_Mutation_p.T549K	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	549					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATCAATGTCTGTGTCACACAC	0.413																																					p.T549K													.	FBXL4	54		0			c.C1646A												84	82	83					6																	99323347		2203	4300	6503	SO:0001583	missense	26235	exon8			ATGTCTGTGTCAC	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1646C>A	6.37:g.99323347G>T	ENSP00000358247:p.Thr549Lys		97	0	0		99	0.03	3	NM_012160	27	0	0	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391015	0.25118	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.02258	4.37;4.37	5.87	5.01	0.66863	.	0.241563	0.45126	D	0.000385	T	0.00608	0.0020	N	0.12961	0.28	0.47547	D	0.999452	P;B	0.49090	0.919;0.008	B;B	0.38562	0.276;0.004	T	0.59316	-0.7477	10	0.07175	T	0.84	.	14.9133	0.70776	0.0684:0.0:0.9316:0.0	.	549;549	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	K	549	ENSP00000358247:T549K;ENSP00000229971:T549K	ENSP00000229971:T549K	T	-	2	0	FBXL4	99430068	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.304000	0.72800	1.500000	0.48636	-0.225000	0.12378	ACA			0.413	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041587.2				T	99323347	G	T	99323347	3	4	25	1	0	0	0	0	1	0	0	0	5734	1377	48	3	227	3	FBXL4	6	99323347	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	56092510	99323347	71791720	24	1640											
SHPRH	257218	broad.mit.edu	37	chr6	146256416	146256416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttattgtactgacttGgtcaatcacatctttctttg	11	17	5	8	0	4	1	2	1	2	0	4	1	4	1	0	1	2	1	0	1	5	6			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr6:146256416G>T	ENST00000367505.2	-	12	2995	c.2731C>A	c.(2731-2733)Caa>Aaa	p.Q911K	SHPRH_ENST00000438092.2_Missense_Mutation_p.Q911K|SHPRH_ENST00000367503.3_Missense_Mutation_p.Q911K|SHPRH_ENST00000275233.7_Missense_Mutation_p.Q911K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	911					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GTACTGACTTGGTCAATCACA	0.333																																					p.Q911K													.	SHPRH	169		0			c.C2731A												77	71	72					6																	146256416		1859	4088	5947	SO:0001583	missense	257218	exon12			TGACTTGGTCAAT	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2731C>A	6.37:g.146256416G>T	ENSP00000356475:p.Gln911Lys		91	0	0		85	0.04	3	NM_173082	17	0	0	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674664	0.88445	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.73	5.73	0.89815	SNF2-related (1);	0.000000	0.64402	D	0.000001	T	0.78916	0.4359	L	0.39245	1.2	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.80764	0.991;0.994;0.99	T	0.80553	-0.1331	10	0.72032	D	0.01	-21.6024	18.0771	0.89431	0.0:0.0:1.0:0.0	.	800;911;911	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	K	911	ENSP00000356475:Q911K;ENSP00000356473:Q911K;ENSP00000412797:Q911K;ENSP00000275233:Q911K	ENSP00000275233:Q911K	Q	-	1	0	SHPRH	146298109	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.700000	0.92200	0.655000	0.94253	CAA			0.333	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000042571.2		NM_173082		T	146256416	G	T	146256416	3	4	25	1	0	0	0	0	1	0	0	0	14314	1357	47	3	2440	3	SHPRH	6	146256416	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	46933069	146256416	24858651	25	1641											
GRM1	2911	mdanderson.org	37	chr6	146755748	146755748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggaggacctgcaggcggCcagcaaactgaccccggatg	10	3	16	12	2	0	1	0	1	0	0	0	5	0	5	4	6	3	2	4	6	1	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr6:146755748C>T	ENST00000282753.1	+	8	3636	c.3401C>T	c.(3400-3402)gCc>gTc	p.A1134V	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.A1134V|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1134					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)		CTGCAGGCGGCCAGCAAACTG	0.642																																					p.A1134V													.	.			0			c.C3401T												49	54	52					6																	146755748		2202	4300	6502	SO:0001583	missense	2911	exon9			AGGCGGCCAGCAA	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.3401C>T	6.37:g.146755748C>T	ENSP00000282753:p.Ala1134Val		55	0	0		22	0.09	2	NM_000838	0		0	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997657	0.74818	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87966	-2.32;-2.32	5.97	5.97	0.96955	.	0.504996	0.18281	N	0.146025	T	0.77558	0.4148	L	0.29908	0.895	0.80722	D	1	B	0.15141	0.012	B	0.16289	0.015	T	0.70124	-0.4958	10	0.49607	T	0.09	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	1134	Q13255	GRM1_HUMAN	V	1134	ENSP00000354896:A1134V;ENSP00000282753:A1134V	ENSP00000282753:A1134V	A	+	2	0	GRM1	146797441	0.995000	0.38212	0.995000	0.50966	0.989000	0.77384	3.032000	0.49736	2.837000	0.97791	0.655000	0.94253	GCC			0.642	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042574.1		NM_000838		T	146755748	C	T	146755748	3	4	25	1	0	0	0	0	1	0	0	0	6811	739	26	2	3496	2	GRM1	6	146755748	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	499332	146755748	24359319	26	1642											
SP8	221833	mdanderson.org	37	chr7	20824970	20824970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgccgccgccgcCgctgcccccggaaactccgg	3	2	12	24	8	0	0	0	0	0	0	1	1	1	1	10	2	2	1	10	2	1	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr7:20824970C>T	ENST00000361443.4	-	3	649	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	SP8_ENST00000418710.2_Missense_Mutation_p.G156S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	138					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ccgccgccgccgctgcccccg	0.761																																					p.G156S													.	.			0			c.G466A																																									SO:0001583	missense	221833	exon2			CGCCGCCGCTGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.412G>A	7.37:g.20824970C>T	ENSP00000354482:p.Gly138Ser		40	0	0		57	0.05	3	NM_182700	4	0.5	2	Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435495	0.12045	.	.	ENSG00000164651	ENST00000418710;ENST00000361443	D;D	0.81821	-1.54;-1.54	3.09	2.16	0.27623	.	0.366549	0.17990	U	0.155235	T	0.58308	0.2113	N	0.08118	0	0.31008	N	0.719562	D;D	0.55605	0.972;0.972	B;B	0.41860	0.368;0.368	T	0.60005	-0.7347	10	0.08837	T	0.75	.	10.7467	0.46185	0.1919:0.8081:0.0:0.0	.	138;138	Q7Z615;Q8IXZ3	.;SP8_HUMAN	S	156;138	ENSP00000408792:G156S;ENSP00000354482:G138S	ENSP00000354482:G138S	G	-	1	0	SP8	20791495	.	.	0.969000	0.41365	0.291000	0.27294	.	.	0.455000	0.26910	0.306000	0.20318	GGC			0.761	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000326904.2				T	20824970	C	T	20824970	3	4	25	1	0	0	0	0	1	0	0	0	14993	652	23	1	1064	1	SP8	7	20824970	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10		20824970	138313693	27	1643											
SP4	6671	broad.mit.edu	37	chr7	21468306	21468306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgttgcagatcagaagaagGaggaggaggaggaggcggca	13	5	19	4	1	1	3	1	0	0	3	1	8	1	8	0	7	1	3	0	7	2	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr7:21468306G>A	ENST00000222584.3	+	2	237	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	7	Poly-Glu.				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						TCAGAAGAAGGAGGAGGAGGA	0.512																																					p.E7K													SP4,colon,carcinoma,0,1	SP4	91	1	0			c.G19A												20	20	20					7																	21468306		2171	4251	6422	SO:0001583	missense	6671	exon2			AAGAAGGAGGAGG		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.19G>A	7.37:g.21468306G>A	ENSP00000222584:p.Glu7Lys		66	0	0		79	0.04	3	NM_003112	1	0	0	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318989	0.41096	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	T	0.09911	2.93	4.5	4.5	0.54988	.	0.061123	0.64402	N	0.000005	T	0.10937	0.0267	L	0.36672	1.1	0.44142	D	0.996934	P	0.34587	0.458	B	0.39152	0.292	T	0.20907	-1.0261	10	0.23891	T	0.37	.	12.5742	0.56355	0.0:0.0:1.0:0.0	.	7	Q02446	SP4_HUMAN	K	7	ENSP00000222584:E7K	ENSP00000222584:E7K	E	+	1	0	SP4	21434831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.555000	0.73928	2.345000	0.79718	0.563000	0.77884	GAG			0.512	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211617.2		NM_003112		A	21468306	G	A	21468306	3	1	25	1	0	0	0	0	1	0	0	0	14989	1175	41	3	25	3	SP4	7	21468306	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	643336	21468306	137670357	28	1644											
ORAI2	80228	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	102087325	102087325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacgggctggcaggccgcCctggtgtccaccatcatcat	7	7	11	16	2	2	0	2	0	0	0	3	0	3	0	4	4	0	2	4	4	0	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr7:102087325C>T	ENST00000356387.2	+	4	826	c.591C>T	c.(589-591)gcC>gcT	p.A197A	ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.A197A|ORAI2_ENST00000403646.3_Silent_p.A197A|ORAI2_ENST00000478730.2_Silent_p.A197A	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	197						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						GGCAGGCCGCCCTGGTGTCCA	0.662																																					p.A197A													.	.			0			c.C591T												53	51	52					7																	102087325		2203	4300	6503	SO:0001819	synonymous_variant	80228	exon3			GGCCGCCCTGGTG	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.591C>T	7.37:g.102087325C>T			61	0	0		75	0.27	20	NM_032831	13	0.38	5	Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	CCDS5722.1																																																																																					0.662	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349509.2		NM_032831		T	102087325	C	T	102087325	2	4	25	1	0	0	0	0	0	0	0	1	11275	610	22	3		3	ORAI2	7	102087325	Silent	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	80619019	102087325	57051338	29	1645											
SLC13A4	26266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	135406263	135406263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatcagcacgtaagcacaCgaggcctcctgcaaggcaag	13	4	11	13	3	1	0	1	0	0	0	2	2	2	0	2	2	3	5	2	2	3	1	rs370307347		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr7:135406263C>T	ENST00000354042.4	-	2	797	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	36					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CGTAAGCACACGAGGCCTCCT	0.602																																					p.S36S													.	.			0			c.G108A							C		1,4405	2.1+/-5.4	0,1,2202	52	42	46		108	-6.2	0	7		46	0,8600		0,0,4300	no	coding-synonymous	SLC13A4	NM_012450.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		36/627	135406263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26266	exon2			AGCACACGAGGCC	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.108G>A	7.37:g.135406263C>T			341	0	0		426	0.18	75	NM_012450	1	0	0	A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	CCDS5840.1																																																																																					0.602	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340558.1		NM_012450		T	135406263	C	T	135406263	2	4	25	1	0	0	0	0	0	0	0	1	14417	523	19	1		1	SLC13A4	7	135406263	Silent	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	33318938	135406263	23732400	30	1646											
LZTS1	11178	mdanderson.org	37	chr8	20107717	20107717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgcagggcgccctccAggtcctgggtcctcagctcc	3	8	14	16	2	1	0	1	0	0	0	5	0	5	0	5	4	2	2	5	4	0	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr8:20107717A>G	ENST00000381569.1	-	4	1664	c.1307T>C	c.(1306-1308)cTg>cCg	p.L436P	LZTS1_ENST00000265801.6_Missense_Mutation_p.L436P|LZTS1_ENST00000522290.1_Missense_Mutation_p.L436P			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	436					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCGCCCTCCAGGTCCTGGGT	0.647																																					p.L436P													.	.			0			c.T1307C												79	85	83					8																	20107717		2203	4300	6503	SO:0001583	missense	11178	exon3			CCCTCCAGGTCCT	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1307T>C	8.37:g.20107717A>G	ENSP00000370981:p.Leu436Pro		55	0	0		46	0.07	3	NM_021020	30	0	0	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	a	15.03	2.713654	0.48517	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.55588	0.51;0.51;0.51	4.7	4.7	0.59300	.	0.437967	0.23389	N	0.048711	T	0.70876	0.3274	M	0.78916	2.43	0.58432	D	0.999994	D;D	0.76494	0.998;0.999	D;D	0.81914	0.953;0.995	T	0.74312	-0.3706	10	0.66056	D	0.02	-17.0768	11.5671	0.50811	1.0:0.0:0.0:0.0	.	436;436	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	P	436	ENSP00000370981:L436P;ENSP00000265801:L436P;ENSP00000429263:L436P	ENSP00000265801:L436P	L	-	2	0	LZTS1	20151997	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	4.386000	0.59620	1.756000	0.51951	0.454000	0.30748	CTG			0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214122.1		NM_021020		G	20107717	A	G	20107717	3	3	25	1	0	0	0	0	1	0	0	0	9154	188	7	4	487	4	LZTS1	8	20107717	Missense_Mutation	SNP	A	TCGA-2G-AAGA-01A-11D-A42Y-10		20107717	126256305	31	1647											
AGPAT6	137964	broad.mit.edu	37	chr8	41478445	41478445	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagggagaaggtgaaggaCacgttcaaggaggagcagca	16	3	17	5	1	1	3	1	1	0	2	1	7	1	6	0	5	2	3	0	5	4	1			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr8:41478445C>T	ENST00000396987.3	+	13	2223	c.1296C>T	c.(1294-1296)gaC>gaT	p.D432D	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	432					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)			AGGTGAAGGACACGTTCAAGG	0.602																																					p.D432D													.	AGPAT6	32		0			c.C1296T												68	43	51					8																	41478445		2080	4025	6105	SO:0001819	synonymous_variant	137964	exon13			GAAGGACACGTTC	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		ENST00000396987.3:c.1296C>T	8.37:g.41478445C>T			218	0	0		240	0.02	5	NM_178819	387	0.05	18	Q86V89	Silent	SNP	ENST00000396987.3	37	CCDS6117.1																																																																																					0.602	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377158.1	rescued with RNA-seq	NM_178819		T	41478445	C	T	41478445	2	4	25	1	0	0	0	0	0	0	0	1	391	477	17	3		3	AGPAT6	8	41478445	Silent	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	21370728	41478445	104885577	32	1648											
POLB	5423	broad.mit.edu	37	chr8	42210059	42210059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgctgcaaggaagtttGtagatgaaggaattaaaaca	16	10	10	5	0	1	2	0	1	1	1	1	4	1	4	0	2	3	4	0	2	7	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr8:42210059G>T	ENST00000265421.4	+	6	513	c.343G>T	c.(343-345)Gta>Tta	p.V115L	POLB_ENST00000538005.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	115					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)	AAGGAAGTTTGTAGATGAAGG	0.368								DNA polymerases (catalytic subunits)																													p.V115L													.	POLB	60		0			c.G343T												209	186	193					8																	42210059		2203	4300	6503	SO:0001583	missense	5423	exon6			AAGTTTGTAGATG		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.343G>T	8.37:g.42210059G>T	ENSP00000265421:p.Val115Leu		102	0	0		110	0.03	3	NM_002690	108	0	0	B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.50|12.50	1.957373|1.957373	0.34565|0.34565	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000521290|ENST00000265421;ENST00000518925	.|T;T	.|0.42513	.|0.97;1.01	5.62|5.62	5.62|5.62	0.85841|0.85841	.|DNA-directed DNA polymerase X (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);DNA polymerase lambda, fingers domain (2);	.|0.056412	.|0.64402	.|D	.|0.000001	T|T	0.44685|0.44685	0.1305|0.1305	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	.|B;B	.|0.20550	.|0.025;0.046	.|B;B	.|0.27608	.|0.071;0.081	T|T	0.27571|0.27571	-1.0070|-1.0070	5|10	.|0.37606	.|T	.|0.19	-5.5251|-5.5251	17.16|17.16	0.86801|0.86801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|115;115	.|Q53EV2;P06746	.|.;DPOLB_HUMAN	F|L	45|115	.|ENSP00000265421:V115L;ENSP00000430784:V115L	.|ENSP00000265421:V115L	C|V	+|+	2|1	0|0	POLB|POLB	42329216|42329216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.905000|4.905000	0.63286|0.63286	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	TGT|GTA			0.368	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377242.1		NM_002690		T	42210059	G	T	42210059	3	4	25	1	0	0	0	0	1	0	0	0	12206	1377	48	3	365	3	POLB	8	42210059	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	731614	42210059	104153963	33	1649											
FNTA	2339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	42940420	42940420	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcaccaacaaatgtacagCaataacaccatccagaagaa	20	5	4	12	0	1	2	1	0	0	2	2	2	2	2	3	0	4	2	3	0	7	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr8:42940420C>T	ENST00000302279.3	+	9	1329	c.1135C>T	c.(1135-1137)Caa>Taa	p.Q379*	FNTA_ENST00000529687.1_Nonsense_Mutation_p.Q228*|FNTA_ENST00000342116.4_Nonsense_Mutation_p.Q312*	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	379					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAATGTACAGCAATAACACCA	0.398																																					p.Q379X													FNTA,NS,carcinoma,-1,1	FNTA	-1	1	0			c.C1135T												95	81	86					8																	42940420		2203	4300	6503	SO:0001587	stop_gained	2339	exon9			GTACAGCAATAAC	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.1135C>T	8.37:g.42940420C>T	ENSP00000303423:p.Gln379*		281	0	0		297	0.2	59	NM_002027	387	0.21	80	A6NJW0|Q53XJ9|Q9UDC1	Nonsense_Mutation	SNP	ENST00000302279.3	37	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914976	0.92178	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.7	5.7	0.88788	.	0.515163	0.20695	N	0.087400	.	.	.	.	.	.	0.34259	D	0.679706	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3299	0.87259	0.0:1.0:0.0:0.0	.	.	.	.	X	379;312	.	ENSP00000303423:Q379X	Q	+	1	0	FNTA	43059577	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	3.645000	0.54389	2.703000	0.92315	0.650000	0.86243	CAA			0.398	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383178.1		NM_002027		T	42940420	C	T	42940420	4	4	25	1	0	0	0	0	0	1	0	0	5990	711	25	2	1169	2	FNTA	8	42940420	Nonsense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	730361	42940420	103423602	34	1650											
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	77761779	77761779	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttattgtaactacaataGtagggaccaaagtcgtatcc	13	12	7	9	1	0	0	0	0	0	0	3	1	2	1	3	1	2	3	3	1	8	7			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr8:77761779G>C	ENST00000521891.2	+	8	4125	c.3677G>C	c.(3676-3678)aGt>aCt	p.S1226T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1181T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1200T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1181T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1181					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)			AACTACAATAGTAGGGACCAA	0.408										HNSCC(33;0.089)																											p.S1226T													.	.			0			c.G3677C												135	129	131					8																	77761779		1944	4153	6097	SO:0001583	missense	79776	exon8			ACAATAGTAGGGA		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.3677G>C	8.37:g.77761779G>C	ENSP00000430497:p.Ser1226Thr		104	0	0		102	0.09	9	NM_024721	0		0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579728	0.46006	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50548	0.74;0.79;0.75;0.75	4.71	4.71	0.59529	Zinc finger, C2H2-like (1);	0.000000	0.49305	U	0.000141	T	0.37517	0.1006	L	0.42686	1.345	0.51767	D	0.99993	B;P;B	0.35272	0.322;0.493;0.275	B;B;B	0.28139	0.086;0.074;0.051	T	0.22208	-1.0223	10	0.12103	T	0.63	.	18.2145	0.89881	0.0:0.0:1.0:0.0	.	1181;1181;1226	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	1226;1226;1181;1181;1200	ENSP00000430497:S1226T;ENSP00000399605:S1181T;ENSP00000050961:S1181T;ENSP00000430848:S1200T	ENSP00000050961:S1181T	S	+	2	0	ZFHX4	77924334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.459000	0.73513	2.593000	0.87608	0.650000	0.86243	AGT			0.408	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379197.2		NM_024721		C	77761779	G	C	77761779	3	2	25	1	0	0	0	0	1	0	0	0	17658	1029	36	5	3703	5	ZFHX4	8	77761779	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	34821359	77761779	68602243	35	1651											
STK3	6788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	99608285	99608285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgtgttgcagtagctCtctgctcaggattcttcacc	8	14	9	10	0	4	0	2	0	2	0	5	1	4	1	1	1	3	6	1	1	2	5			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr8:99608285C>A	ENST00000419617.2	-	7	937	c.797G>T	c.(796-798)aGa>aTa	p.R266I	STK3_ENST00000521768.1_5'UTR|STK3_ENST00000523601.1_Missense_Mutation_p.R294I	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TGCAGTAGCTCTCTGCTCAGG	0.428																																					p.R294I													.	.			0			c.G881T												72	70	70					8																	99608285		1896	4105	6001	SO:0001583	missense	6788	exon9			GTAGCTCTCTGCT	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.797G>T	8.37:g.99608285C>A	ENSP00000390500:p.Arg266Ile		190	0	0		185	0.19	35	NM_001256312	33	0.06	2	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604549	0.87157	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.50277	0.91;0.91;0.75	5.28	5.28	0.74379	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	0.83059	0.5172	H	0.99357	4.53	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.985;1.0;1.0	D	0.90379	0.4386	10	0.87932	D	0	.	19.2729	0.94018	0.0:1.0:0.0:0.0	.	155;266;294	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	I	266;294;155	ENSP00000390500:R266I;ENSP00000429744:R294I;ENSP00000428014:R155I	ENSP00000390500:R266I	R	-	2	0	STK3	99677461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.000000	0.70678	2.638000	0.89438	0.467000	0.42956	AGA			0.428	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379635.1		NM_006281		A	99608285	C	A	99608285	3	1	25	1	0	0	0	0	1	0	0	0	15318	913	32	3	698	3	STK3	8	99608285	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	21846506	99608285	46755737	36	1652											
RNF139	83940	mdanderson.org	37	chr8	125499847	125499847	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagtgattcagcacacaGgcgcagcagctgaagaattt	13	8	12	8	1	1	3	1	2	0	1	1	4	1	4	0	2	3	4	0	2	2	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr8:125499847G>T	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.G653C|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)			TCAGCACACAGGCGCAGCAGC	0.368																																					p.G653C													.	.			0			c.G1957T												71	66	68					8																	125499847		2203	4299	6502	SO:0001628	intergenic_variant	11236	exon2			CACACAGGCGCAG	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.125499847G>T			52	0	0		49	0.06	3	NM_007218	257	0	0	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528543	0.27299	.	.	ENSG00000170881	ENST00000303545	T	0.23754	1.89	5.55	5.55	0.83447	.	0.562593	0.19428	N	0.114511	T	0.20901	0.0503	N	0.14661	0.345	0.30266	N	0.792663	P	0.43412	0.806	B	0.41946	0.371	T	0.05225	-1.0898	10	0.54805	T	0.06	-3.191	18.0353	0.89301	0.0:0.0:1.0:0.0	.	653	Q8WU17	RN139_HUMAN	C	653	ENSP00000304051:G653C	ENSP00000304051:G653C	G	+	1	0	RNF139	125569028	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	4.411000	0.59781	2.769000	0.95229	0.491000	0.48974	GGC			0.368	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381655.1		NM_032026		T	125499847	G	T	125499847	1	4	25	0	1	0	0	0	0	0	0	0	13465	1000	35	3		3	RNF139	8	125499847	IGR	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	25891562	125499847	20864175	37	1653											
COL15A1	1306	broad.mit.edu	37	chr9	101797339	101797339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctggacccccggggaaaaAgggacaagctggccctcctg	10	4	13	14	1	0	0	0	0	0	0	1	3	1	3	5	5	1	1	5	5	3	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr9:101797339A>G	ENST00000375001.3	+	18	2546	c.2123A>G	c.(2122-2124)aAg>aGg	p.K708R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	708	Collagen-like 2.|Triple-helical region 2 (COL2).				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)				CCGGGGAAAAAGGGACAAGCT	0.617																																					p.K708R													.	COL15A1	211		0			c.A2123G												48	48	48					9																	101797339		2202	4299	6501	SO:0001583	missense	1306	exon18			GGAAAAAGGGACA	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.2123A>G	9.37:g.101797339A>G	ENSP00000364140:p.Lys708Arg		106	0.0094339623	1		104	0.04	4	NM_001855	62	0	0	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763906	0.15914	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.93547	-3.24	5.69	4.53	0.55603	.	0.498001	0.19952	N	0.102410	T	0.80654	0.4664	N	0.01482	-0.84	0.19300	N	0.999977	B	0.14438	0.01	B	0.16722	0.016	T	0.68969	-0.5269	10	0.26408	T	0.33	-4.0721	9.8533	0.41070	0.8277:0.1723:0.0:0.0	.	708	P39059	COFA1_HUMAN	R	708;678	ENSP00000364140:K708R	ENSP00000364140:K708R	K	+	2	0	COL15A1	100837160	0.371000	0.25056	0.707000	0.30419	0.304000	0.27724	1.029000	0.30140	0.961000	0.38030	0.533000	0.62120	AAG			0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053386.3		NM_001855		G	101797339	A	G	101797339	3	3	25	1	0	0	0	0	1	0	0	0	3674	72	3	4	2193	4	COL15A1	9	101797339	Missense_Mutation	SNP	A	TCGA-2G-AAGA-01A-11D-A42Y-10		101797339	39416092	38	1654											
GTF3C4	9329	mdanderson.org	37	chr9	135553575	135553575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgaccatggacaatcGcctgaccatccaggcaaatc	13	6	8	14	1	0	2	0	2	0	0	3	3	1	3	4	2	1	2	4	2	2	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr9:135553575G>T	ENST00000372146.4	+	2	1133	c.569G>T	c.(568-570)cGc>cTc	p.R190L	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	190					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ATGGACAATCGCCTGACCATC	0.522																																					p.R190L	Pancreas(142;417 1875 11086 31973 47667)												.	.			0			c.G569T												86	82	83					9																	135553575		2203	4300	6503	SO:0001583	missense	9329	exon2			ACAATCGCCTGAC	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.569G>T	9.37:g.135553575G>T	ENSP00000361219:p.Arg190Leu		61	0	0		54	0.06	3	NM_012204	53	0	0	Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418652	0.83559	.	.	ENSG00000125484	ENST00000372146	T	0.45668	0.89	5.72	5.72	0.89469	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56878	-0.7906	10	0.72032	D	0.01	-31.2408	18.4551	0.90717	0.0:0.0:1.0:0.0	.	190	Q9UKN8	TF3C4_HUMAN	L	190	ENSP00000361219:R190L	ENSP00000361219:R190L	R	+	2	0	GTF3C4	134543396	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.238000	0.95380	2.709000	0.92574	0.561000	0.74099	CGC			0.522	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054792.1				T	135553575	G	T	135553575	3	4	25	1	0	0	0	0	1	0	0	0	6890	1087	38	1	575	1	GTF3C4	9	135553575	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	33756236	135553575	5659856	39	1655											
NDOR1	27158	mdanderson.org	37	chr9	140109564	140109564	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggtgctctgtgacttcccGcacacagctgccgccatccc	6	9	9	17	2	1	1	0	1	1	0	3	1	3	1	4	1	3	3	4	1	1	2	rs145912724		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr9:140109564G>A	ENST00000344894.5	+	9	1166	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	NDOR1_ENST00000371521.4_Silent_p.P361P|NDOR1_ENST00000427047.2_Silent_p.P327P|NDOR1_ENST00000458322.2_Silent_p.P361P	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTGACTTCCCGCACACAGCTG	0.662																																					p.P361P													.	.			0			c.G1083A							G	,,,	0,4404		0,0,2202	82	64	70		1083,981,1083,1083	-8.1	0.7	9	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDOR1	NM_001144026.1,NM_001144027.1,NM_001144028.1,NM_014434.2	,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,	361/607,327/522,361/591,361/598	140109564	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	27158	exon9			CTTCCCGCACACA	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1083G>A	9.37:g.140109564G>A			56	0	0		52	0.06	3	NM_001144026	89	0	0		Silent	SNP	ENST00000344894.5	37	CCDS7036.1																																																																																			0		0.662	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254704.1		NM_014434		A	140109564	G	A	140109564	2	1	25	1	0	0	0	0	0	0	0	1	10266	1074	38	1		1	NDOR1	9	140109564	Silent	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	4555989	140109564	1103867	40	1656											
USP54	159195	hgsc.bcm.edu	37	chr10	75279658	75279658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcgatcctgcaggctccGtgcttttcgaatactgattt	7	14	9	11	3	0	1	0	1	0	0	3	3	2	1	2	1	4	3	2	1	2	4			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr10:75279658G>A	ENST00000339859.4	-	18	2675	c.2575C>T	c.(2575-2577)Cgg>Tgg	p.R859W	USP54_ENST00000422491.2_Missense_Mutation_p.R41W|USP54_ENST00000408019.1_Missense_Mutation_p.R859W|USP54_ENST00000394811.2_De_novo_Start_OutOfFrame|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_Intron|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.R709W			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	859					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TGCAGGCTCCGTGCTTTTCGA	0.557																																					p.R859W	Colon(195;880 2046 8854 25025 38456)												.	.			0			c.C2575T												49	54	52					10																	75279658		2143	4272	6415	SO:0001583	missense	159195	exon17			GGCTCCGTGCTTT	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2575C>T	10.37:g.75279658G>A	ENSP00000345216:p.Arg859Trp		67	0	0		83	0.05	4	NM_152586	10	0	0	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136702	0.77662	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000422491	T;T;T;T	0.63417	1.54;1.54;1.54;-0.04	6.03	4.13	0.48395	.	0.190679	0.34828	U	0.003653	T	0.76572	0.4006	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.78879	-0.2030	10	0.87932	D	0	-10.039	15.4188	0.74995	0.0:0.0:0.7457:0.2543	.	41;859;859	E7EW90;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	W	859;859;709;41	ENSP00000345216:R859W;ENSP00000386080:R859W;ENSP00000408714:R709W;ENSP00000407368:R41W	ENSP00000345216:R859W	R	-	1	2	USP54	74949664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.276000	0.58933	0.827000	0.34685	0.557000	0.71058	CGG			0.557	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316563.2		NM_152586		A	75279658	G	A	75279658	3	1	25	1	0	0	0	0	1	0	0	0	17109	1144	40	1	2503	1	USP54	10	75279658	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		75279658	60255089	41	1657											
CRTAC1	55118	mdanderson.org	37	chr10	99655119	99655119	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccttagctcccctggcaaAggccccaaaccgggtgcgtg	8	6	12	15	2	0	0	0	0	0	0	1	1	1	0	6	3	3	2	6	3	3	1			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr10:99655119A>T	ENST00000370597.3	-	11	1724	c.1369T>A	c.(1369-1371)Ttt>Att	p.F457I	CRTAC1_ENST00000298819.4_Missense_Mutation_p.F457I|CRTAC1_ENST00000370591.2_Missense_Mutation_p.F457I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	457						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCCCTGGCAAAGGCCCCAAAC	0.627																																					p.F457I													.	.			0			c.T1369A												73	66	68					10																	99655119		2203	4300	6503	SO:0001583	missense	55118	exon11			TGGCAAAGGCCCC	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1369T>A	10.37:g.99655119A>T	ENSP00000359629:p.Phe457Ile		50	0	0		49	0.06	3	NM_001206528	19	0	0	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039850	0.75732	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.73789	1.46;-0.78;1.46;0.06;0.06	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.82268	0.5000	M	0.86740	2.835	0.80722	D	1	P;D;P	0.54397	0.523;0.966;0.85	B;P;P	0.52109	0.19;0.69;0.658	T	0.82067	-0.0641	10	0.19590	T	0.45	-15.6966	14.81	0.69989	1.0:0.0:0.0:0.0	.	457;457;353	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	I	353;457;457;449;457	ENSP00000408445:F353I;ENSP00000359629:F457I;ENSP00000298819:F457I;ENSP00000310810:F449I;ENSP00000359623:F457I	ENSP00000298819:F457I	F	-	1	0	CRTAC1	99645109	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.403000	0.79983	1.896000	0.54893	0.379000	0.24179	TTT			0.627	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000049754.1		NM_018058		T	99655119	A	T	99655119	3	4	25	1	0	0	0	0	1	0	0	0	3898	72	3	5	636	5	CRTAC1	10	99655119	Missense_Mutation	SNP	A	TCGA-2G-AAGA-01A-11D-A42Y-10	24375461	99655119	35879628	42	1658											
MUC2	4583	mdanderson.org	37	chr11	1092971	1092971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacggtgaccccaaccccaaCacccaccggcacacagaccc	12	2	6	21	2	0	2	0	1	0	1	0	2	0	2	7	2	3	1	7	2	3	1			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr11:1092971C>T	ENST00000441003.2	+	30	4817	c.4790C>T	c.(4789-4791)aCa>aTa	p.T1597I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccaaccccaacacccaccggc	0.632																																					p.T1597I													MUC2_ENST00000441003,NS,carcinoma,0,1	MUC2_ENST00000441003	0	1	0			c.C4790T												47	82	70					11																	1092971		1782	3233	5015	SO:0001583	missense	4583	exon30			CCCCAACACCCAC	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.4790C>T	11.37:g.1092971C>T	ENSP00000415183:p.Thr1597Ile		38	0.0263157895	1		16	0.13	2	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.395	-0.338980	0.05243	.	.	ENSG00000198788	ENST00000441003	T	0.14640	2.49	1.75	0.762	0.18454	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.41520	-0.9504	8	0.22109	T	0.4	.	4.3366	0.11089	0.0:0.6142:0.0:0.3858	.	1597	E7EUV1	.	I	1597	ENSP00000415183:T1597I	ENSP00000415183:T1597I	T	+	2	0	MUC2	1082971	0.029000	0.19370	0.001000	0.08648	0.134000	0.20937	1.107000	0.31110	0.104000	0.17725	0.121000	0.15741	ACA			0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1092971	C	T	1092971	3	4	25	1	0	0	0	0	1	0	0	0	9991	478	17	3	4908	3	MUC2	11	1092971	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10		1092971	133913545	43	1659											
ZDHHC5	25921	mdanderson.org	37	chr11	57456091	57456091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacctgccgcttttaccGtccccctcgatgttcccact	4	12	6	19	3	0	0	0	0	0	0	3	1	2	0	7	0	3	2	7	0	1	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr11:57456091G>T	ENST00000287169.3	+	4	1700	c.338G>T	c.(337-339)cGt>cTt	p.R113L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R60L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	113					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CGCTTTTACCGTCCCCCTCGA	0.517																																					p.R113L													.	.			0			c.G338T												113	93	100					11																	57456091		2201	4296	6497	SO:0001583	missense	25921	exon4			TTTACCGTCCCCC	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.338G>T	11.37:g.57456091G>T	ENSP00000287169:p.Arg113Leu		106	0	0		56	0.05	3	NM_015457	72	0	0	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620420	0.96660	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842;ENST00000529447	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	5.02	5.02	0.67125	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98340	1.0538	10	0.87932	D	0	-3.9462	18.1316	0.89603	0.0:0.0:1.0:0.0	.	113	Q9C0B5	ZDHC5_HUMAN	L	60;113;11;11;39	ENSP00000432202:R60L;ENSP00000287169:R113L;ENSP00000431209:R11L;ENSP00000435593:R11L;ENSP00000435722:R39L	ENSP00000287169:R113L	R	+	2	0	ZDHHC5	57212667	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	9.110000	0.94302	2.614000	0.88457	0.561000	0.74099	CGT			0.517	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393694.1		NM_015457		T	57456091	G	T	57456091	3	4	25	1	0	0	0	0	1	0	0	0	17641	1145	40	1	348	1	ZDHHC5	11	57456091	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	56363120	57456091	77550425	44	1660											
LTBP3	4054	broad.mit.edu	37	chr11	65325326	65325328	+	In_Frame_Del	DEL	CAG	CAG	-																															tcgaccctgccgcccaggccCagcagcagcagcagcagcag																								rs577530923	byFrequency	TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr11:65325326_65325328delCAG	ENST00000301873.5	-	1	371_373	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	LTBP3_ENST00000536982.1_5'Flank|LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	35	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	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						cgcccaggcccagcagcagcagc	0.818																																					p.35_35del													.	LTBP3	55		0			c.103_105del								,,	2,10,52		1,0,0,5,0,26					,,	2.7	1			1	37,32,177		18,0,1,14,4,86	no	codingComplex,utr-5,codingComplex	LTBP3	NM_021070.4,NM_001164266.1,NM_001130144.2	,,	19,0,1,19,4,112	A1A1,A1A2,A1R,A2A2,A2R,RR		28.0488,18.75,26.129	,,	,,		39,42,229				SO:0001651	inframe_deletion	4054	exon1			CAGGCCCAGCAGC	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.103_105delCTG	11.37:g.65325335_65325337delCAG	ENSP00000301873:p.Leu35del		10	0	0		6	0.33	2	NM_001130144	0		0	O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Del	DEL	ENST00000301873.5	37	CCDS44647.1																																																																																					0.818	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390538.1		NM_021070		-	65325328	CAG	-	65325326	7	5	25	1	0	1	0	1	0	0	0	0	9091	581	21	0	3918	0	LTBP3	11	65325326	In_Frame_Del	DEL	CAG	TCGA-2G-AAGA-01A-11D-A42Y-10	7869235	65325326	69681190	45	1661											
RIN1	9610	broad.mit.edu	37	chr11	66103323	66103323	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctggcactggcgggTgttagatttccgcacgagga	7	8	16	10	3	0	1	0	0	0	1	1	3	1	2	2	5	0	3	2	5	1	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr11:66103323T>G	ENST00000311320.4	-	3	418	c.292A>C	c.(292-294)Acc>Ccc	p.T98P	RIN1_ENST00000530056.1_5'UTR|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000424433.2_5'UTR	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	98	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACTGGCGGGTGTTAGATTTC	0.647																																					p.T98P													.	RIN1	64		0			c.A292C												27	32	30					11																	66103323		2200	4291	6491	SO:0001583	missense	9610	exon3			GGCGGGTGTTAGA	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.292A>C	11.37:g.66103323T>G	ENSP00000310406:p.Thr98Pro		47	0.1489361702	7		47	0.32	15	NM_004292	4	0	0	O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	T	8.888	0.953287	0.18431	.	.	ENSG00000174791	ENST00000311320	T	0.46063	0.88	4.46	3.28	0.37604	SH2 motif (3);	0.377544	0.22674	N	0.057033	T	0.28632	0.0709	L	0.35487	1.065	0.80722	D	1	B	0.16802	0.019	B	0.14023	0.01	T	0.05599	-1.0875	10	0.33141	T	0.24	-11.8941	7.2275	0.26024	0.1981:0.0:0.0:0.8019	.	98	Q13671	RIN1_HUMAN	P	98	ENSP00000310406:T98P	ENSP00000310406:T98P	T	-	1	0	RIN1	65859899	1.000000	0.71417	0.826000	0.32828	0.076000	0.17211	0.450000	0.21762	0.637000	0.30526	0.379000	0.24179	ACC			0.647	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392980.2		NM_004292		G	66103323	T	G	66103323	3	3	25	1	0	0	0	0	1	0	0	0	13394	1696	59	4	2091	4	RIN1	11	66103323	Missense_Mutation	SNP	T	TCGA-2G-AAGA-01A-11D-A42Y-10	777997	66103323	68903193	46	1662											
EXPH5	23086	broad.mit.edu	37	chr11	108381652	108381652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcagactctctaagtttgGttcatctgactgagtctcct	7	15	8	11	0	4	3	1	2	3	1	6	3	4	3	1	1	1	3	1	1	1	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr11:108381652G>T	ENST00000265843.4	-	6	4692	c.4582C>A	c.(4582-4584)Cca>Aca	p.P1528T	EXPH5_ENST00000443411.1_Missense_Mutation_p.P1340T|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1521T|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1452T|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1528					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)		TCTAAGTTTGGTTCATCTGAC	0.423																																					p.P1528T													.	EXPH5	193		0			c.C4582A												65	60	61					11																	108381652		2201	4298	6499	SO:0001583	missense	23086	exon6			AGTTTGGTTCATC		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.4582C>A	11.37:g.108381652G>T	ENSP00000265843:p.Pro1528Thr		131	0.0229007634	3		99	0.04	4	NM_015065	0		0	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	9.751	1.167459	0.21621	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03035	4.29;4.22;4.07;4.29;4.13	5.72	2.71	0.32032	.	0.747577	0.12679	N	0.448166	T	0.04452	0.0122	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.45542	-0.9254	10	0.21014	T	0.42	0.2028	5.5115	0.16884	0.0749:0.1365:0.6366:0.1521	.	1528	Q8NEV8	EXPH5_HUMAN	T	1528;1452;1340;1521;1452	ENSP00000265843:P1528T;ENSP00000391966:P1452T;ENSP00000411390:P1340T;ENSP00000432546:P1521T;ENSP00000432683:P1452T	ENSP00000265843:P1528T	P	-	1	0	EXPH5	107886862	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.268000	0.08607	0.280000	0.22209	0.561000	0.74099	CCA			0.423	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390279.1		NM_015065		T	108381652	G	T	108381652	3	4	25	1	0	0	0	0	1	0	0	0	5329	1261	44	3	1391	3	EXPH5	11	108381652	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	42278329	108381652	26624864	47	1663											
ST3GAL4	6484	broad.mit.edu;mdanderson.org	37	chr11	126276436	126276436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtattccatctcccgggaaGacaggtacatcgagctgtga	10	9	12	10	2	1	2	0	1	1	1	4	4	2	3	2	3	2	3	2	3	3	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr11:126276436G>T	ENST00000526727.1	+	2	459	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	ST3GAL4_ENST00000392669.2_Missense_Mutation_p.D29Y|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.D29Y|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.D29Y|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.D18Y|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.D28Y|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.D29Y|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.D28Y|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.D29Y|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.D29Y			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	29					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|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)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTCCCGGGAAGACAGGTACAT	0.577																																					p.D29Y													.	ST3GAL4	25		0			c.G85T												186	146	160					11																	126276436		2201	4298	6499	SO:0001583	missense	6484	exon3			CGGGAAGACAGGT	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.85G>T	11.37:g.126276436G>T	ENSP00000436047:p.Asp29Tyr		79	0	0		53	0.08	4	NM_001254757	116	0	0	A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084912	0.55861	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000526311;ENST00000528858;ENST00000534452;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.47528	0.87;0.91;0.86;0.87;0.91;0.9;0.91;0.91;0.91;0.9;0.84	5.32	4.41	0.53225	.	0.269957	0.31660	N	0.007269	T	0.52224	0.1721	L	0.50333	1.59	0.42229	D	0.991884	D;P;P	0.56968	0.978;0.868;0.868	P;B;B	0.53146	0.719;0.406;0.31	T	0.50533	-0.8817	10	0.35671	T	0.21	.	12.4666	0.55762	0.0781:0.0:0.9219:0.0	.	10;29;29	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	Y	29;29;29;29;29;29;29;29;29;29;18;28;28	ENSP00000227495:D29Y;ENSP00000394354:D29Y;ENSP00000348451:D29Y;ENSP00000433989:D29Y;ENSP00000433318:D29Y;ENSP00000432424:D29Y;ENSP00000376437:D29Y;ENSP00000436047:D29Y;ENSP00000399444:D18Y;ENSP00000434349:D28Y;ENSP00000434668:D28Y	ENSP00000227495:D29Y	D	+	1	0	ST3GAL4	125781646	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.023000	0.70848	1.236000	0.43740	0.650000	0.86243	GAC			0.577	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386470.1		NM_006278		T	126276436	G	T	126276436	3	4	25	1	0	0	0	0	1	0	0	0	15240	942	33	3	91	3	ST3GAL4	11	126276436	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	17894784	126276436	8730080	48	1664											
BCAT1	586	broad.mit.edu	37	chr12	24995152	24995152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaaaaagagatgagccGtaattcctttaagaaagaga	17	8	11	5	1	0	4	0	1	0	3	1	6	1	4	2	1	1	2	2	1	5	4			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr12:24995152G>A	ENST00000261192.7	-	7	1207	c.681C>T	c.(679-681)taC>taT	p.Y227Y	BCAT1_ENST00000538118.1_Silent_p.Y226Y|BCAT1_ENST00000539282.1_Silent_p.Y239Y|BCAT1_ENST00000539780.1_Silent_p.Y190Y|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Silent_p.Y166Y	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	227					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)	GAGATGAGCCGTAATTCCTTT	0.438																																					p.Y239Y													.	BCAT1	44		0			c.C717T												60	58	58					12																	24995152		1910	4138	6048	SO:0001819	synonymous_variant	586	exon7			TGAGCCGTAATTC		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.681C>T	12.37:g.24995152G>A			73	0	0		154	0.03	4	NM_001178093	2119	0	1	B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Silent	SNP	ENST00000261192.7	37	CCDS44845.1																																																																																					0.438	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000402080.1		NM_005504		A	24995152	G	A	24995152	2	1	25	1	0	0	0	0	0	0	0	1	1354	1140	40	1		1	BCAT1	12	24995152	Silent	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		24995152	108856743	49	1665											
TUBA1C	84790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49663613	49663613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccatcatgttctccagatGaagttcgcactggcacttac	9	11	7	14	1	2	2	1	1	1	1	4	2	2	2	3	1	1	4	3	1	2	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr12:49663613G>A	ENST00000301072.6	+	3	504	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	TUBA1C_ENST00000549183.1_Missense_Mutation_p.E77K|TUBA1C_ENST00000541364.1_Missense_Mutation_p.E147K|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	77					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TTCTCCAGATGAAGTTCGCAC	0.597																																					p.E77K													.	.			0			c.G229A												90	88	89					12																	49663613		2203	4300	6503	SO:0001583	missense	84790	exon3			CCAGATGAAGTTC	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"Tubulins"	20768	protein-coding gene	gene with protein product			"tubulin, alpha 6"	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.229G>A	12.37:g.49663613G>A	ENSP00000301072:p.Glu77Lys		109	0	0		135	0.16	21	NM_032704	7170	0.22	1610		Missense_Mutation	SNP	ENST00000301072.6	37	CCDS8782.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015434	0.54468	.	.	ENSG00000167553	ENST00000541364;ENST00000301072;ENST00000549183;ENST00000321665	T;T;T	0.69040	-0.37;-0.37;-0.37	4.28	4.28	0.50868	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.90252	3.1	0.58432	D	0.999993	B;B	0.20887	0.03;0.049	B;B	0.27715	0.082;0.067	T	0.78270	-0.2269	10	0.87932	D	0	.	16.7586	0.85506	0.0:0.0:1.0:0.0	.	147;77	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	K	147;77;77;77	ENSP00000443475:E147K;ENSP00000301072:E77K;ENSP00000448211:E77K	ENSP00000301072:E77K	E	+	1	0	TUBA1C	47949880	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.561000	0.82288	2.675000	0.91044	0.549000	0.68633	GAA			0.597	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404424.1		NM_032704		A	49663613	G	A	49663613	3	1	25	1	0	0	0	0	1	0	0	0	16769	1291	45	3	239	3	TUBA1C	12	49663613	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	24668461	49663613	84188282	50	1666											
BEST3	144453	broad.mit.edu	37	chr12	70049388	70049388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcttgagggcacatccaGtaggtccctggctgggctga	6	11	14	10	0	1	2	0	2	1	0	3	2	3	2	2	4	0	5	2	4	1	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr12:70049388G>T	ENST00000330891.5	-	10	1532	c.1306C>A	c.(1306-1308)Ctg>Atg	p.L436M	BEST3_ENST00000488961.1_Missense_Mutation_p.L223M|BEST3_ENST00000553096.1_Missense_Mutation_p.L330M|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	436					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCACATCCAGTAGGTCCCTG	0.592																																					p.L436M													.	BEST3	129		0			c.C1306A												89	94	92					12																	70049388		2000	4176	6176	SO:0001583	missense	144453	exon10			CATCCAGTAGGTC	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1306C>A	12.37:g.70049388G>T	ENSP00000332413:p.Leu436Met		78	0	0		75	0.04	3	NM_032735	0		0	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041888	0.35989	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98120	-4.42;-4.73;-4.7	5.63	5.63	0.86233	.	0.533626	0.17202	N	0.183086	D	0.98033	0.9352	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.68192	0.897;0.956	D	0.96642	0.9475	10	0.29301	T	0.29	-11.6734	11.8624	0.52474	0.0812:0.0:0.9188:0.0	.	436;223	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	223;436;330	ENSP00000433213:L223M;ENSP00000332413:L436M;ENSP00000449548:L330M	ENSP00000332413:L436M	L	-	1	2	BEST3	68335655	1.000000	0.71417	0.993000	0.49108	0.032000	0.12392	1.555000	0.36277	2.636000	0.89361	0.655000	0.94253	CTG			0.592	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313908.2		NM_152439		T	70049388	G	T	70049388	3	4	25	1	0	0	0	0	1	0	0	0	1406	1020	36	3	704	3	BEST3	12	70049388	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	20385775	70049388	63802507	51	1667											
NBEA	26960	mdanderson.org	37	chr13	35672447	35672447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgcagtgctactctgttgGcattcctggttgaactactt	7	15	9	10	0	1	1	0	1	1	0	2	1	2	1	1	2	5	5	1	2	3	6			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr13:35672447G>A	ENST00000400445.3	+	11	2119	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	NBEA_ENST00000540320.1_Missense_Mutation_p.A529T|NBEA_ENST00000379939.2_Missense_Mutation_p.A529T|NBEA_ENST00000310336.4_Missense_Mutation_p.A529T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	529					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACTCTGTTGGCATTCCTGGT	0.368																																					p.A529T													.	.			0			c.G1585A												79	69	72					13																	35672447		1890	4128	6018	SO:0001583	missense	26960	exon11			CTGTTGGCATTCC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1585G>A	13.37:g.35672447G>A	ENSP00000383295:p.Ala529Thr		46	0	0		34	0.09	3	NM_015678	0		0	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991608	0.93106	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	L	0.53249	1.67	0.80722	D	1	P	0.48834	0.916	P	0.45712	0.491	T	0.36939	-0.9727	10	0.30078	T	0.28	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	529	Q5T321	.	T	529	ENSP00000440951:A529T;ENSP00000383295:A529T;ENSP00000369271:A529T;ENSP00000308534:A529T	ENSP00000308534:A529T	A	+	1	0	NBEA	34570447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.690000	0.84178	2.345000	0.79718	0.585000	0.79938	GCA			0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_015678		A	35672447	G	A	35672447	3	1	25	1	0	0	0	0	1	0	0	0	10203	1203	42	2	1627	2	NBEA	13	35672447	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		35672447	79497431	52	1668											
RNF113B	140432	mdanderson.org	37	chr13	98829478	98829478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccgtccttcctggagaagGtggcgctgccatgtttgagt	5	11	15	10	2	0	2	0	1	0	1	2	3	2	2	4	4	1	2	4	4	1	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr13:98829478G>T	ENST00000267291.6	-	1	41	c.13C>A	c.(13-15)Cct>Act	p.P5T	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	5							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCTGGAGAAGGTGGCGCTGCC	0.657																																					p.P5T													.	.			0			c.C13A												40	36	38					13																	98829478		2203	4300	6503	SO:0001583	missense	140432	exon1			GAGAAGGTGGCGC	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"RING-type (C3HC4) zinc fingers"	17267	protein-coding gene	gene with protein product			"zinc finger protein 183-like 1"	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.13C>A	13.37:g.98829478G>T	ENSP00000267291:p.Pro5Thr		27	0	0		19	0.16	3	NM_178861	10	0	0	Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.813514	0.00600	.	.	ENSG00000139797	ENST00000267291	T	0.29917	1.55	1.17	-1.1	0.09872	.	1.399460	0.04811	U	0.435243	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.17379	-1.0371	10	0.08599	T	0.76	.	2.6064	0.04879	0.2337:0.3101:0.4562:0.0	.	5	Q8IZP6	R113B_HUMAN	T	5	ENSP00000267291:P5T	ENSP00000267291:P5T	P	-	1	0	RNF113B	97627479	0.083000	0.21467	0.000000	0.03702	0.003000	0.03518	0.558000	0.23469	-0.435000	0.07264	-0.424000	0.05967	CCT			0.657	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045536.3		NM_178861		T	98829478	G	T	98829478	3	4	25	1	0	0	0	0	1	0	0	0	13451	1261	44	3	963	3	RNF113B	13	98829478	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	63157031	98829478	16340400	53	1669											
IRS2	8660	mdanderson.org	37	chr13	110434903	110434903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggcgcttggggttgtgGgcgaaggacggggacacggg	5	8	22	6	4	0	0	0	0	0	0	0	3	0	2	0	8	0	2	0	8	1	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr13:110434903G>A	ENST00000375856.3	-	1	4012	c.3498C>T	c.(3496-3498)gcC>gcT	p.A1166A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1166					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)			TGGGGTTGTGGGCGAAGGACG	0.692																																					p.A1166A	Melanoma(100;613 2409 40847)												.	.			0			c.C3498T												4	4	4					13																	110434903		1798	3702	5500	SO:0001819	synonymous_variant	8660	exon1			GTTGTGGGCGAAG	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.3498C>T	13.37:g.110434903G>A			46	0	0		42	0.07	3	NM_003749	4	0	0	Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	CCDS9510.1																																																																																					0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045755.1		NM_003749		A	110434903	G	A	110434903	2	1	25	1	0	0	0	0	0	0	0	1	7856	1219	43	3		3	IRS2	13	110434903	Silent	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	11605425	110434903	4734975	54	1670											
NRL	4901	broad.mit.edu;mdanderson.org	37	chr14	24551760	24551760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggactgggccctgaccctGcagcagctccatggcctctt	6	8	12	15	0	1	1	0	1	1	0	2	2	2	2	4	3	3	3	4	3	0	1			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr14:24551760G>T	ENST00000561028.1	-	2	617	c.298C>A	c.(298-300)Cag>Aag	p.Q100K	NRL_ENST00000560550.1_5'Flank|NRL_ENST00000397002.2_Missense_Mutation_p.Q100K|NRL_ENST00000396997.1_Missense_Mutation_p.Q100K|NRL_ENST00000396995.1_5'Flank			P54845	NRL_HUMAN	neural retina leucine zipper	100					positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CCCTGACCCTGCAGCAGCTCC	0.662																																					p.Q100K													.	NRL	8		0			c.C298A												33	36	35					14																	24551760		2199	4294	6493	SO:0001583	missense	4901	exon2			GACCCTGCAGCAG		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.298C>A	14.37:g.24551760G>T	ENSP00000454062:p.Gln100Lys		88	0	0		75	0.05	4	NM_006177	5	0	0	A8MX14|Q53XD0	Missense_Mutation	SNP	ENST00000561028.1	37	CCDS9608.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571478	0.28003	.	.	ENSG00000129535	ENST00000397002;ENST00000396997	T;T	0.77098	-1.07;-1.07	5.19	5.19	0.71726	Maf transcription factor, N-terminal (1);	0.226336	0.34025	N	0.004322	T	0.71542	0.3352	L	0.36672	1.1	0.80722	D	1	P	0.44195	0.828	P	0.47251	0.542	T	0.65853	-0.6067	10	0.17369	T	0.5	-31.6105	11.184	0.48644	0.0:0.0:0.8169:0.1831	.	100	P54845	NRL_HUMAN	K	100	ENSP00000380197:Q100K;ENSP00000380193:Q100K	ENSP00000337023:Q100K	Q	-	1	0	NRL	23621600	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.502000	0.53332	2.695000	0.91970	0.655000	0.94253	CAG			0.662	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415595.1				T	24551760	G	T	24551760	3	4	25	1	0	0	0	0	1	0	0	0	10673	1328	46	2	423	2	NRL	14	24551760	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		24551760	82797780	55	1671											
LTB4R2	56413	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24780848	24780848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctagggaagggaccatggaGctccgaactacccctcagct	10	7	11	13	1	2	0	1	0	1	0	3	4	3	3	4	3	4	2	4	3	4	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr14:24780848G>C	ENST00000528054.1	+	1	2688	c.1071G>C	c.(1069-1071)gaG>gaC	p.E357D	LTB4R2_ENST00000533293.1_Missense_Mutation_p.E326D|LTB4R2_ENST00000543919.1_Missense_Mutation_p.E326D|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000258807.5_5'Flank|CIDEB_ENST00000555817.1_5'Flank|CIDEB_ENST00000336557.5_5'Flank|LTB4R_ENST00000345363.3_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	357					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGACCATGGAGCTCCGAACTA	0.677																																					p.E326D													.	.			0			c.G978C												36	46	42					14																	24780848		2194	4287	6481	SO:0001583	missense	56413	exon2			CATGGAGCTCCGA	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.1071G>C	14.37:g.24780848G>C	ENSP00000432146:p.Glu357Asp		41	0.0243902439	1		38	0.13	5	NM_019839	25	0.2	5	Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37		.	.	.	.	.	.	.	.	.	.	G	16.55	3.153429	0.57259	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919	T;T;T	0.68624	-0.34;-0.34;-0.34	4.81	-0.322	0.12713	.	0.898456	0.09303	U	0.820662	T	0.56601	0.1996	N	0.24115	0.695	0.80722	D	1	D	0.58268	0.982	P	0.49999	0.628	T	0.51188	-0.8737	10	0.21540	T	0.41	.	9.8653	0.41140	0.3307:0.0:0.6693:0.0	.	357	Q9NPC1	LT4R2_HUMAN	D	357;326;326	ENSP00000432146:E357D;ENSP00000433290:E326D;ENSP00000445772:E326D	ENSP00000337731:E357D	E	+	3	2	LTB4R2	23850688	0.002000	0.14202	0.998000	0.56505	0.986000	0.74619	-0.281000	0.08456	-0.063000	0.13065	-0.423000	0.05987	GAG			0.677	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding		OTTHUMT00000073194.4				C	24780848	G	C	24780848	3	2	25	1	0	0	0	0	1	0	0	0	9088	962	34	5	980	5	LTB4R2	14	24780848	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	229088	24780848	82568692	56	1672											
LINGO1	84894	ucsc.edu	37	chr15	77906739	77906739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcatggagtcgttgcCgcccgcgttggccgcgatgc	3	7	18	13	7	0	0	0	0	0	0	1	2	0	1	3	4	2	3	3	4	0	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr15:77906739C>T	ENST00000355300.6	-	2	1684	c.1510G>A	c.(1510-1512)Ggc>Agc	p.G504S	LINGO1_ENST00000561030.1_Missense_Mutation_p.G498S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	504	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGTCGTTGCCGCCCGCGTTG	0.652																																					p.G504S													.	LINGO1	76		0			c.G1510A												43	47	45					15																	77906739		2135	4221	6356	SO:0001583	missense	84894	exon2			CGTTGCCGCCCGC	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1510G>A	15.37:g.77906739C>T	ENSP00000347451:p.Gly504Ser		51	0	0		43	0.09	4	NM_032808	208	0	1	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339250	0.81911	.	.	ENSG00000169783	ENST00000355300	T	0.74315	-0.83	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89733	0.6800	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92324	0.5868	10	0.87932	D	0	.	18.482	0.90815	0.0:1.0:0.0:0.0	.	504	Q96FE5	LIGO1_HUMAN	S	504	ENSP00000347451:G504S	ENSP00000347451:G504S	G	-	1	0	LINGO1	75693794	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.818000	0.86416	2.359000	0.80004	0.462000	0.41574	GGC			0.652	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419546.1		NM_032808		T	77906739	C	T	77906739	3	4	25	1	0	0	0	0	1	0	0	0	8829	652	23	1	356	1	LINGO1	15	77906739	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10		77906739	24624653	57	1673											
AXIN1	8312	broad.mit.edu;mdanderson.org	37	chr16	396715	396715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcctgcttcaggaaaGtcctgaacaggcttatccca	10	9	8	14	0	1	1	1	1	0	0	4	2	4	2	4	2	3	2	4	2	3	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr16:396715G>T	ENST00000262320.3	-	2	682	c.311C>A	c.(310-312)aCt>aAt	p.T104N	AXIN1_ENST00000354866.3_Missense_Mutation_p.T104N|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	104	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)				CTTCAGGAAAGTCCTGAACAG	0.582											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.T104N													.	AXIN1	290		0			c.C311A												45	41	42					16																	396715		2203	4300	6503	SO:0001583	missense	8312	exon2			AGGAAAGTCCTGA	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.311C>A	16.37:g.396715G>T	ENSP00000262320:p.Thr104Asn		61	0	0	588	46	0.07	3	NM_181050	57	0	0	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989705	0.35131	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.01902	4.57;4.57	5.51	4.55	0.56014	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.141247	0.64402	D	0.000005	T	0.02455	0.0075	L	0.33137	0.985	0.58432	D	0.999998	B;B	0.19706	0.017;0.038	B;B	0.23275	0.018;0.045	T	0.53279	-0.8461	10	0.41790	T	0.15	-29.7606	10.2023	0.43092	0.074:0.1381:0.7879:0.0	.	104;104	O15169-2;O15169	.;AXIN1_HUMAN	N	104	ENSP00000262320:T104N;ENSP00000346935:T104N	ENSP00000262320:T104N	T	-	2	0	AXIN1	336716	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.020000	0.49643	2.605000	0.88082	0.655000	0.94253	ACT			0.582	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000139441.3				T	396715	G	T	396715	3	4	25	1	0	0	0	0	1	0	0	0	1236	1029	36	3	2317	3	AXIN1	16	396715	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		396715	89958038	58	1674											
METRN	79006	mdanderson.org	37	chr16	767135	767135	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagtctgtcatcactgtGgtggccgcccgtgtcctccg	4	10	13	14	3	3	0	2	0	1	0	5	1	5	1	4	3	0	0	4	3	0	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr16:767135G>T	ENST00000568223.2	+	4	805	c.630G>T	c.(628-630)gtG>gtT	p.V210V	METRN_ENST00000568415.1_Silent_p.V77V	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	210					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				TCATCACTGTGGTGGCCGCCC	0.652																																					p.V210V													.	.			0			c.G630T												30	38	35					16																	767135		2185	4289	6474	SO:0001819	synonymous_variant	79006	exon4			CACTGTGGTGGCC	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.630G>T	16.37:g.767135G>T			59	0	0		36	0.08	3	NM_024042	94	0	0	Q9UJH9	Silent	SNP	ENST00000568223.2	37	CCDS10422.1																																																																																					0.652	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109074.4		NM_024042		T	767135	G	T	767135	2	4	25	1	0	0	0	0	0	0	0	1	9504	1335	47	3		3	METRN	16	767135	Silent	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	370420	767135	89587618	59	1675											
ZSCAN10	84891	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	3142732	3142732	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccggccgcagccagtggccGcagagctcccggagccggct	5	3	16	17	5	0	1	0	0	0	1	1	2	1	2	6	4	3	4	6	4	0	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr16:3142732G>T	ENST00000252463.2	-	1	129	c.42C>A	c.(40-42)tgC>tgA	p.C14*	ZSCAN10_ENST00000538082.2_Silent_p.R22R|ZSCAN10_ENST00000572548.1_Nonsense_Mutation_p.C14*|ZSCAN10_ENST00000575108.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	14	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCCAGTGGCCGCAGAGCTCCC	0.667																																					p.C14X													ZSCAN10,NS,carcinoma,-1,1	ZSCAN10	-1	1	0			c.C42A												12	15	14					16																	3142732		2172	4251	6423	SO:0001587	stop_gained	84891	exon1			GTGGCCGCAGAGC	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.42C>A	16.37:g.3142732G>T	ENSP00000252463:p.Cys14*		78	0	0		72	0.06	4	NM_032805	365	0.01	2	B3KQD3|H0YFS6|Q1WWM2	Nonsense_Mutation	SNP	ENST00000252463.2	37	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266937	0.80469	.	.	ENSG00000130182	ENST00000252463	.	.	.	5.39	2.33	0.28932	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.1522	7.2639	0.26219	0.2875:0.0:0.7125:0.0	.	.	.	.	X	14	.	ENSP00000252463:C14X	C	-	3	2	ZSCAN10	3082733	0.005000	0.15991	0.145000	0.22337	0.381000	0.30169	0.263000	0.18478	0.245000	0.21373	0.555000	0.69702	TGC			0.667	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437124.2		NM_032805		T	3142732	G	T	3142732	4	4	25	1	0	0	0	0	0	1	0	0	18250	1079	38	1	2155	1	ZSCAN10	16	3142732	Nonsense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	2375597	3142732	87212021	60	1676											
ACSM5	54988	mdanderson.org	37	chr16	20441066	20441066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaccctgacgtgagggaGaagtggaaacaccagactgg	13	5	13	10	1	1	4	1	2	0	2	1	6	1	5	2	3	2	0	2	3	3	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr16:20441066G>T	ENST00000331849.4	+	8	1215	c.1068G>T	c.(1066-1068)gaG>gaT	p.E356D		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	356					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						ACGTGAGGGAGAAGTGGAAAC	0.587																																					p.E356D													.	.			0			c.G1068T												91	93	92					16																	20441066		2203	4300	6503	SO:0001583	missense	54988	exon8			GAGGGAGAAGTGG		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.1068G>T	16.37:g.20441066G>T	ENSP00000327916:p.Glu356Asp		47	0	0		38	0.08	3	NM_017888	1	0	0	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144476	0.21288	.	.	ENSG00000183549	ENST00000331849	T	0.44881	0.91	4.44	-2.14	0.07123	AMP-dependent synthetase/ligase (1);	0.591885	0.15848	N	0.241658	T	0.23688	0.0573	L	0.37466	1.105	0.24431	N	0.994573	B	0.02656	0.0	B	0.06405	0.002	T	0.12630	-1.0540	10	0.46703	T	0.11	-11.0633	1.0836	0.01647	0.4642:0.1745:0.1985:0.1628	.	356	Q6NUN0	ACSM5_HUMAN	D	356	ENSP00000327916:E356D	ENSP00000327916:E356D	E	+	3	2	ACSM5	20348567	0.000000	0.05858	0.989000	0.46669	0.218000	0.24690	-1.506000	0.02271	-0.179000	0.10654	0.557000	0.71058	GAG			0.587	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254413.1		NM_017888		T	20441066	G	T	20441066	3	4	25	1	0	0	0	0	1	0	0	0	187	933	33	3	1094	3	ACSM5	16	20441066	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	17298334	20441066	69913687	61	1677											
TNRC6A	27327	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	24826529	24826529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccctatgactttatgaaCagcagtacttcaccagccag	11	11	7	12	0	1	2	1	2	0	0	2	2	2	2	3	0	4	3	3	0	4	6			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr16:24826529C>T	ENST00000395799.3	+	19	4863	c.4734C>T	c.(4732-4734)aaC>aaT	p.N1578N	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Silent_p.N56N|TNRC6A_ENST00000315183.7_Silent_p.N1529N	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1578					cellular response to starvation (GO:0009267)|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)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACTTTATGAACAGCAGTACTT	0.458																																					p.N1578N													.	TNRC6A	171		0			c.C4734T												100	96	97					16																	24826529		2197	4300	6497	SO:0001819	synonymous_variant	27327	exon19			TATGAACAGCAGT	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4734C>T	16.37:g.24826529C>T			115	0.0086956522	1		84	0.2	17	NM_014494	36	0.17	6	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048072	0.19827	.	.	ENSG00000090905	ENST00000450465	.	.	.	5.92	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7773	11.9331	0.52857	0.0:0.8585:0.0:0.1415	.	.	.	.	X	469	.	.	Q	+	1	0	TNRC6A	24734030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.282000	0.43461	0.833000	0.34828	0.655000	0.94253	CAG			0.458	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000214081.1		NM_020847		T	24826529	C	T	24826529	2	4	25	1	0	0	0	0	0	0	0	1	16363	477	17	3		3	TNRC6A	16	24826529	Silent	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	4385463	24826529	65528224	62	1678											
MAZ	4150	mdanderson.org	37	chr16	29818593	29818593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccgcggcggcggccaccGccgtcgtagccccaacctcg	4	4	13	20	9	0	0	0	0	0	0	3	0	0	0	7	3	2	1	7	3	2	1			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr16:29818593G>C	ENST00000322945.6	+	2	652	c.487G>C	c.(487-489)Gcc>Ccc	p.A163P	MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568544.1_5'Flank|AC009133.14_ENST00000569981.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000569978.1_5'Flank|MAZ_ENST00000219782.6_Missense_Mutation_p.A163P|MAZ_ENST00000568282.1_5'Flank|MAZ_ENST00000545521.1_Missense_Mutation_p.A140P	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	163					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ggcggccaccgccgtcgtagc	0.766																																					p.A163P	Colon(72;875 1167 15364 30899 37091)												.	.			0			c.G487C												2	3	3					16																	29818593		1451	3483	4934	SO:0001583	missense	4150	exon2			GCCACCGCCGTCG	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.487G>C	16.37:g.29818593G>C	ENSP00000313362:p.Ala163Pro		41	0.1463414634	6		37	0.24	9	NM_002383	56	0.07	4	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005950	0.19199	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782	T;T;T	0.10382	2.94;2.88;2.9	2.67	0.277	0.15668	.	1.123320	0.06978	U	0.819346	T	0.04679	0.0127	N	0.08118	0	0.19300	N	0.999978	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.42258	-0.9462	10	0.39692	T	0.17	-3.8263	0.8803	0.01232	0.1603:0.2273:0.3807:0.2317	.	140;163;163	C6G496;P56270;G5E927	.;MAZ_HUMAN;.	P	140;163;163	ENSP00000443956:A140P;ENSP00000313362:A163P;ENSP00000219782:A163P	ENSP00000219782:A163P	A	+	1	0	MAZ	29726094	0.078000	0.21339	0.928000	0.36995	0.129000	0.20672	2.550000	0.45811	1.237000	0.43756	0.281000	0.19383	GCC			0.766	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000435536.1		NM_002383		C	29818593	G	C	29818593	3	2	25	1	0	0	0	0	1	0	0	0	9356	1087	38	5	493	5	MAZ	16	29818593	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	4992064	29818593	60536160	63	1679											
CCDC102A	92922	mdanderson.org	37	chr16	57552171	57552171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccactccgcagcgttttCggcctgcagccgctccatct	4	9	9	19	4	1	0	0	0	1	0	4	0	3	0	6	1	3	4	6	1	0	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr16:57552171C>T	ENST00000258214.2	-	6	1303	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	353										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GCAGCGTTTTCGGCCTGCAGC	0.687																																					p.E353K													.	.			0			c.G1057A												36	46	43					16																	57552171		2191	4283	6474	SO:0001583	missense	92922	exon6			CGTTTTCGGCCTG	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1057G>A	16.37:g.57552171C>T	ENSP00000258214:p.Glu353Lys		27	0	0		23	0.09	2	NM_033212	27	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422165	0.62622	.	.	ENSG00000135736	ENST00000258214	D	0.85088	-1.94	4.37	2.36	0.29203	.	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	M	0.80616	2.505	0.54753	D	0.999984	D	0.65815	0.995	P	0.51297	0.665	D	0.88617	0.3160	10	0.87932	D	0	-12.493	9.946	0.41609	0.0:0.8429:0.0:0.1571	.	353	Q96A19	C102A_HUMAN	K	353	ENSP00000258214:E353K	ENSP00000258214:E353K	E	-	1	0	CCDC102A	56109672	1.000000	0.71417	0.730000	0.30809	0.118000	0.20060	7.543000	0.82106	1.986000	0.57962	0.555000	0.69702	GAA			0.687	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257348.1		NM_033212		T	57552171	C	T	57552171	3	4	25	1	0	0	0	0	1	0	0	0	2738	893	31	1	611	1	CCDC102A	16	57552171	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	27733578	57552171	32802582	64	1680											
PELP1	27043	broad.mit.edu	37	chr17	4575679	4575679	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccagggctgggggtccTcccccaccaggagtcccttc	4	9	11	17	0	1	0	0	0	1	0	6	1	5	1	6	4	0	1	6	4	0	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr17:4575679T>C	ENST00000574876.1	-	16	2624	c.2607A>G	c.(2605-2607)ggA>ggG	p.G869G	PELP1_ENST00000572293.1_Silent_p.G919G|PELP1_ENST00000436683.2_Silent_p.G722G|PELP1_ENST00000301396.4_Silent_p.G1013G|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Silent_p.G779G			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	869	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGGGGTCCTCCCCCACCAG	0.592																																					p.G869G													.	PELP1	102		0			c.A2607G												7	8	7					17																	4575679		1885	4050	5935	SO:0001819	synonymous_variant	27043	exon16			GGGTCCTCCCCCA		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2607A>G	17.37:g.4575679T>C			135	0.0222222222	3		157	0.03	5	NM_014389	744	0.01	4	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																					0.592	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000439140.2		NM_014389		C	4575679	T	C	4575679	2	2	25	1	0	0	0	0	0	0	0	1	11742	1538	54	4		4	PELP1	17	4575679	Silent	SNP	T	TCGA-2G-AAGA-01A-11D-A42Y-10		4575679	76619531	65	1681											
NLGN2	57555	broad.mit.edu	37	chr17	7320787	7320787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctggcgtgcctggtggggGccccctgctccccgccgcgg	0	7	16	18	4	1	0	0	0	1	0	2	0	2	0	6	5	2	1	6	5	0	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr17:7320787G>C	ENST00000302926.2	+	7	2250	c.2177G>C	c.(2176-2178)gGc>gCc	p.G726A	RP11-104H15.7_ENST00000575310.1_RNA|SPEM1_ENST00000323675.3_5'Flank|NLGN2_ENST00000575301.1_Missense_Mutation_p.G726A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	726					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCTGGTGGGGGCCCCCTGCTC	0.731																																					p.G726A													.	NLGN2	61		0			c.G2177C												7	7	7					17																	7320787		2114	4108	6222	SO:0001583	missense	57555	exon7			GTGGGGGCCCCCT	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.2177G>C	17.37:g.7320787G>C	ENSP00000305288:p.Gly726Ala		14	0.0714285714	1		23	0.26	6	NM_020795	29	0	0	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444810	0.04604	.	.	ENSG00000169992	ENST00000302926	T	0.64438	-0.1	3.61	3.61	0.41365	.	0.077148	0.50627	D	0.000113	T	0.37237	0.0996	N	0.04636	-0.2	0.29375	N	0.863732	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	10	0.37606	T	0.19	.	10.9279	0.47201	0.0:0.0:1.0:0.0	.	726	Q8NFZ4	NLGN2_HUMAN	A	726	ENSP00000305288:G726A	ENSP00000305288:G726A	G	+	2	0	NLGN2	7261511	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	2.778000	0.47726	1.995000	0.58328	0.549000	0.68633	GGC			0.731	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226941.2		NM_020795		C	7320787	G	C	7320787	3	2	25	1	0	0	0	0	1	0	0	0	10479	1203	42	5	2203	5	NLGN2	17	7320787	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	2745108	7320787	73874423	66	1682											
DNAH2	146754	broad.mit.edu;mdanderson.org	37	chr17	7702429	7702429	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttctgtccagatccagtcGcatatcatagaccaggcccg	9	9	9	14	2	2	2	1	0	1	2	5	2	4	2	4	1	0	2	4	1	2	3	rs149452093		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr17:7702429G>A	ENST00000572933.1	+	56	10028	c.8568G>A	c.(8566-8568)tcG>tcA	p.S2856S	DNAH2_ENST00000389173.2_Silent_p.S2856S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2856	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(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)				AGATCCAGTCGCATATCATAG	0.607																																					p.S2856S													.	DNAH2	498		0			c.G8568A							G		0,4406		0,0,2203	86	68	74		8568	-11.3	0	17	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH2	NM_020877.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2856/4428	7702429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146754	exon55			CCAGTCGCATATC	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.8568G>A	17.37:g.7702429G>A			88	0	0		87	0.05	4	NM_020877	0		0	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																					0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440241.1		NM_020877		A	7702429	G	A	7702429	2	1	25	1	0	0	0	0	0	0	0	1	4607	1074	38	1		1	DNAH2	17	7702429	Silent	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	381642	7702429	73492781	67	1683											
ERBB2	2064	broad.mit.edu	37	chr17	37879599	37879599	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtccatcatctctgcggtGgttggcattctgctggtcgt	4	14	12	11	3	3	0	1	0	2	0	6	0	4	0	1	4	2	3	1	4	0	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr17:37879599G>T	ENST00000269571.5	+	17	2133	c.1974G>T	c.(1972-1974)gtG>gtT	p.V658V	ERBB2_ENST00000584450.1_Silent_p.V658V|ERBB2_ENST00000540147.1_Silent_p.V628V|ERBB2_ENST00000445658.2_Silent_p.V382V|ERBB2_ENST00000584601.1_Silent_p.V628V|ERBB2_ENST00000541774.1_Silent_p.V643V|ERBB2_ENST00000406381.2_Silent_p.V628V			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	658					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)	TCTCTGCGGTGGTTGGCATTC	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																											p.V658V				Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	.	ERBB2	429		0			c.G1974T												121	109	113					17																	37879599		2203	4300	6503	SO:0001819	synonymous_variant	2064	exon17			TGCGGTGGTTGGC	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.1974G>T	17.37:g.37879599G>T			106	0	0		120	0.04	5	NM_004448	119	0	0	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	CCDS32642.1																																																																																					0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445621.2				T	37879599	G	T	37879599	2	4	25	1	0	0	0	0	0	0	0	1	5213	1335	47	3		3	ERBB2	17	37879599	Silent	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	30177170	37879599	43315611	68	1684											
TANC2	26115	broad.mit.edu	37	chr17	61498459	61498459	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaccttcctcagcatacCgaggtggcgtgagatacagc	10	7	12	12	3	1	1	1	1	0	1	2	4	2	1	3	2	5	1	3	2	2	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr17:61498459C>T	ENST00000424789.2	+	25	5120	c.5116C>T	c.(5116-5118)Cga>Tga	p.R1706*	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.R1716*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1706					in utero embryonic development (GO:0001701)			p.R1716*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCAGCATACCGAGGTGGCGT	0.567																																					p.R1706X													TANC2_ENST00000389520,NS,carcinoma,0,2	TANC2	266	2	2	Substitution - Nonsense(2)	lung(2)	c.C5116T												170	172	171					17																	61498459		2186	4266	6452	SO:0001587	stop_gained	26115	exon25			GCATACCGAGGTG	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5116C>T	17.37:g.61498459C>T	ENSP00000387593:p.Arg1706*		85	0	0		101	0.03	3	NM_025185	3	0	0	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Nonsense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	41	8.641087	0.98897	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	.	.	.	5.06	5.06	0.68205	.	0.074862	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1352	0.59405	0.17:0.83:0.0:0.0	.	.	.	.	X	1716;1706	.	ENSP00000374171:R1716X	R	+	1	2	TANC2	58852191	0.987000	0.35691	1.000000	0.80357	0.788000	0.44548	1.158000	0.31737	2.797000	0.96272	0.561000	0.74099	CGA			0.567	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444765.1				T	61498459	C	T	61498459	4	4	25	1	0	0	0	0	0	1	0	0	15568	644	23	1	5214	1	TANC2	17	61498459	Nonsense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	23618860	61498459	19696751	69	1685											
ITGB4	3691	mdanderson.org	37	chr17	73733624	73733624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctcctctccagactgcCctccgggctccttctggtgg	2	11	9	19	1	2	1	0	0	2	1	7	1	6	1	7	3	1	1	7	3	0	1			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr17:73733624C>T	ENST00000200181.3	+	18	2306	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S	ITGB4_ENST00000339591.3_Missense_Mutation_p.P707S|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.P707S|ITGB4_ENST00000579662.1_Missense_Mutation_p.P707S|ITGB4_ENST00000450894.3_Missense_Mutation_p.P707S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	707					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			tccagactgccctccgggctc	0.692																																					p.P707S													.	.			0			c.C2119T												63	57	59					17																	73733624		2191	4283	6474	SO:0001583	missense	3691	exon18			GACTGCCCTCCGG		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2119C>T	17.37:g.73733624C>T	ENSP00000200181:p.Pro707Ser		56	0	0		52	0.06	3	NM_000213	32	0	0	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818020	0.32145	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D;D	0.93604	-3.25;-2.23;-2.23;-2.23	3.93	3.93	0.45458	Integrin beta subunit, tail (2);	0.000000	0.85682	D	0.000000	D	0.96457	0.8844	M	0.85197	2.74	0.54753	D	0.999989	D;D;D;D	0.67145	0.996;0.991;0.996;0.993	P;D;D;D	0.72338	0.892;0.938;0.963;0.977	D	0.96760	0.9560	10	0.72032	D	0.01	.	13.1912	0.59711	0.1596:0.8404:0.0:0.0	.	707;707;707;707	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	S	623;707;707;707	ENSP00000405536:P623S;ENSP00000200181:P707S;ENSP00000344079:P707S;ENSP00000400217:P707S	ENSP00000200181:P707S	P	+	1	0	ITGB4	71245219	0.562000	0.26586	0.980000	0.43619	0.194000	0.23727	2.601000	0.46249	2.211000	0.71520	0.462000	0.41574	CCT			0.692	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000448334.1				T	73733624	C	T	73733624	3	4	25	1	0	0	0	0	1	0	0	0	7912	623	22	3	2185	3	ITGB4	17	73733624	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	12235165	73733624	7461586	70	1686											
PCYT2	5833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	79866849	79866849	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccacccatttgatggcCtgcaccatcttgtatctctc	6	14	6	15	1	2	1	0	1	2	0	6	1	3	1	4	1	1	2	4	1	1	3			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr17:79866849C>G	ENST00000538936.2	-	3	351	c.243G>C	c.(241-243)caG>caC	p.Q81H	PCYT2_ENST00000570388.1_Missense_Mutation_p.Q3H|PCYT2_ENST00000570391.1_Missense_Mutation_p.Q49H|PCYT2_ENST00000571105.1_Missense_Mutation_p.Q81H|PCYT2_ENST00000331285.3_Missense_Mutation_p.Q3H|PCYT2_ENST00000538721.2_Missense_Mutation_p.Q81H	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	81					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	ATTTGATGGCCTGCACCATCT	0.572																																					p.Q81H													.	.			0			c.G243C												124	124	124					17																	79866849		2203	4296	6499	SO:0001583	missense	5833	exon3			GATGGCCTGCACC	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.243G>C	17.37:g.79866849C>G	ENSP00000439245:p.Gln81His		142	0	0		119	0.13	16	NM_002861	84	0.13	11	B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919628	0.73098	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	D;D	0.96619	-4.07;-4.07	4.23	-1.44	0.08856	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.275252	0.37857	N	0.001919	D	0.94046	0.8092	L	0.41710	1.295	0.36931	D	0.891882	B;P;P;B;P	0.49358	0.404;0.755;0.58;0.239;0.923	B;P;P;B;P	0.53266	0.389;0.637;0.504;0.139;0.722	D	0.90854	0.4733	10	0.72032	D	0.01	-14.0541	6.3346	0.21289	0.0:0.4444:0.1214:0.4341	.	49;49;81;3;81	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	H	81;81;3	ENSP00000442050:Q81H;ENSP00000439245:Q81H	ENSP00000331719:Q3H	Q	-	3	2	PCYT2	77460141	0.918000	0.31147	0.860000	0.33809	0.969000	0.65631	0.021000	0.13489	-0.424000	0.07382	0.549000	0.68633	CAG			0.572	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439939.1		NM_002861		G	79866849	C	G	79866849	3	3	25	1	0	0	0	0	1	0	0	0	11629	680	24	5	1028	5	PCYT2	17	79866849	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	6133225	79866849	1328361	71	1687											
LRRC45	201255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	79988252	79988252	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagggtgcgcgtggagCtgcaggagcagaacggccgg	8	4	20	9	4	0	2	0	1	0	1	0	4	0	4	1	5	6	4	1	5	1	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr17:79988252C>T	ENST00000306688.3	+	16	2068	c.1726C>T	c.(1726-1728)Ctg>Ttg	p.L576L	RAC3_ENST00000306897.4_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	576						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	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)			GCGCGTGGAGCTGCAGGAGCA	0.701																																					p.L576L													.	.			0			c.C1726T												20	23	22					17																	79988252		2066	4059	6125	SO:0001819	synonymous_variant	201255	exon16			GTGGAGCTGCAGG	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1726C>T	17.37:g.79988252C>T			59	0	0		62	0.11	7	NM_144999	68	0.26	18		Silent	SNP	ENST00000306688.3	37	CCDS11797.1																																																																																					0.701	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442058.1		NM_144999		T	79988252	C	T	79988252	2	4	25	1	0	0	0	0	0	0	0	1	9018	796	28	2		2	LRRC45	17	79988252	Silent	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	121403	79988252	1206958	72	1688											
CCDC102B	79839	broad.mit.edu	37	chr18	66504389	66504389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaataaaactagagatggCgatgaaagaattgagtacac	19	7	10	5	1	0	5	0	2	0	3	0	7	0	5	0	1	2	1	0	1	7	4			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr18:66504389C>T	ENST00000360242.5	+	2	506	c.389C>T	c.(388-390)gCg>gTg	p.A130V	CCDC102B_ENST00000319445.6_Missense_Mutation_p.A130V|CCDC102B_ENST00000584156.1_Missense_Mutation_p.A130V|CCDC102B_ENST00000358653.5_Missense_Mutation_p.A130V|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	130										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CTAGAGATGGCGATGAAAGAA	0.448																																					p.A130V													CCDC102B,NS,carcinoma,-1,1	CCDC102B	92	1	0			c.C389T												98	96	97					18																	66504389		1920	4129	6049	SO:0001583	missense	79839	exon4			AGATGGCGATGAA	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.389C>T	18.37:g.66504389C>T	ENSP00000353377:p.Ala130Val		189	0	0		105	0.03	3	NM_001093729	7	0	0	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904685	0.33628	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.46063	0.88;0.88;0.88	5.36	3.59	0.41128	.	0.931002	0.09089	N	0.850191	T	0.31104	0.0786	L	0.34521	1.04	0.09310	N	1	B;B	0.23891	0.093;0.093	B;B	0.14578	0.011;0.011	T	0.22277	-1.0221	10	0.37606	T	0.19	0.2512	7.1111	0.25390	0.0:0.7126:0.0:0.2874	.	130;130	Q68D86-3;Q68D86	.;C102B_HUMAN	V	130	ENSP00000316237:A130V;ENSP00000351479:A130V;ENSP00000353377:A130V	ENSP00000316237:A130V	A	+	2	0	CCDC102B	64655369	0.000000	0.05858	0.001000	0.08648	0.468000	0.32798	1.103000	0.31062	0.650000	0.30769	-0.259000	0.10710	GCG			0.448	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256225.2		NM_024781		T	66504389	C	T	66504389	3	4	25	1	0	0	0	0	1	0	0	0	2739	768	27	1	391	1	CCDC102B	18	66504389	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10		66504389	11572859	73	1689											
TICAM1	148022	mdanderson.org	37	chr19	4818059	4818059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgtcccgcagcgaggCggggcacagcttctcctcag	6	5	14	16	4	2	0	1	0	1	0	4	1	3	0	3	4	2	3	3	4	0	1	rs201291933		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr19:4818059C>T	ENST00000248244.5	-	2	560	c.331G>A	c.(331-333)Gcc>Acc	p.A111T		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	111					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGCAGCGAGGCGGGGCACAGC	0.687													C|||	1	0.000199681	0	0	5008	,	,		16279	0		0.001	False		,,,				2504	0				p.A111T													.	.			0			c.G331A							C	THR/ALA	0,4406		0,0,2203	38	37	37		331	4.1	0	19		37	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TICAM1	NM_182919.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	111/713	4818059	2,13004	2203	4300	6503	SO:0001583	missense	148022	exon2			GCGAGGCGGGGCA	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.331G>A	19.37:g.4818059C>T	ENSP00000248244:p.Ala111Thr		32	0	0		21	0.1	2	NM_182919	5	0	0	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.41	3.115982	0.56505	0.0	2.33E-4	ENSG00000127666	ENST00000248244	T	0.48836	0.8	4.08	4.08	0.47627	.	0.503904	0.14849	N	0.294788	T	0.40196	0.1107	L	0.54323	1.7	0.09310	N	1	P	0.43352	0.804	B	0.35899	0.213	T	0.40365	-0.9567	10	0.52906	T	0.07	-7.0897	10.8115	0.46549	0.0:0.7399:0.2601:0.0	.	111	Q8IUC6	TCAM1_HUMAN	T	111	ENSP00000248244:A111T	ENSP00000248244:A111T	A	-	1	0	TICAM1	4769059	0.003000	0.15002	0.031000	0.17742	0.007000	0.05969	1.488000	0.35551	2.266000	0.75297	0.484000	0.47621	GCC	0		0.687	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450435.1		NM_014261		T	4818059	C	T	4818059	3	4	25	1	0	0	0	0	1	0	0	0	15915	768	27	1	1811	1	TICAM1	19	4818059	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10		4818059	54310924	74	1690											
CCDC159	126075	broad.mit.edu	37	chr19	11464523	11464523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcactttgtgctcggggGcctgtcccaaggcctcgagc	4	9	13	15	2	1	0	1	0	0	0	4	1	2	0	4	3	2	1	4	3	1	1			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr19:11464523G>T	ENST00000588790.1	+	11	1192	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	DKFZP761J1410_ENST00000591608.1_5'Flank|DKFZP761J1410_ENST00000251473.5_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.A249S			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	364										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GTGCTCGGGGGCCTGTCCCAA	0.587																																					p.A249S													.	CCDC159	35		0			c.G745T												19	21	20					19																	11464523		1911	4137	6048	SO:0001583	missense	126075	exon9			TCGGGGGCCTGTC	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.745G>T	19.37:g.11464523G>T	ENSP00000468232:p.Ala249Ser		94	0.0106382979	1		73	0.08	6	NM_001080503	10	0.1	1	B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	37	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551134	0.13374	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.44881	0.91	4.03	-1.86	0.07760	.	.	.	.	.	T	0.20618	0.0496	N	0.22421	0.69	0.09310	N	1	B;B	0.19200	0.034;0.003	B;B	0.21151	0.033;0.01	T	0.28933	-1.0028	9	0.10377	T	0.69	.	3.2836	0.06924	0.4716:0.0:0.3389:0.1894	.	364;249	P0C7I6;P0C7I6-2	CC159_HUMAN;.	S	249;364	ENSP00000402239:A249S	ENSP00000390400:A364S	A	+	1	0	CCDC159	11325523	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.226000	0.17776	-0.209000	0.10156	0.313000	0.20887	GCC			0.587	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458761.1		NM_001080503		T	11464523	G	T	11464523	3	4	25	1	0	0	0	0	1	0	0	0	2793	1203	42	2	779	2	CCDC159	19	11464523	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	6646464	11464523	47664460	75	1691											
MAN2B1	4125	mdanderson.org	37	chr19	12766567	12766567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgggctgtggtgcgcGggcctggggcttccagcgag	3	7	22	9	3	0	0	0	0	0	0	1	2	1	1	2	7	2	2	2	7	0	1			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr19:12766567G>T	ENST00000456935.2	-	14	1811	c.1771C>A	c.(1771-1773)Cgc>Agc	p.R591S	MAN2B1_ENST00000495617.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.R590S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	591					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						TGTGGTGCGCGGGCCTGGGGC	0.612																																					p.R591S													.	.			0			c.C1771A												79	89	86					19																	12766567		2203	4300	6503	SO:0001583	missense	4125	exon14			GTGCGCGGGCCTG		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.1771C>A	19.37:g.12766567G>T	ENSP00000395473:p.Arg591Ser		74	0	0		53	0.06	3	NM_000528	227	0	0	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.328|8.328	0.825877|0.825877	0.16749|0.16749	.|.	.|.	ENSG00000104774|ENSG00000104774	ENST00000433513|ENST00000456935;ENST00000536796;ENST00000221363	.|T;T	.|0.78246	.|-1.16;-1.16	5.04|5.04	2.85|2.85	0.33270|0.33270	.|Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	.|.	.|.	.|.	.|.	T|T	0.52789|0.52789	0.1756|0.1756	N|N	0.11284|0.11284	0.12|0.12	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18863	.|0.031;0.014	.|B;B	.|0.15052	.|0.012;0.009	T|T	0.37641|0.37641	-0.9697|-0.9697	5|9	.|0.07030	.|T	.|0.85	-5.2955|-5.2955	6.1521|6.1521	0.20318|0.20318	0.0971:0.0:0.7182:0.1847|0.0971:0.0:0.7182:0.1847	.|.	.|590;591	.|G5E928;O00754	.|.;MA2B1_HUMAN	Q|S	126|591;530;590	.|ENSP00000395473:R591S;ENSP00000221363:R590S	.|ENSP00000221363:R590S	P|R	-|-	2|1	0|0	MAN2B1|MAN2B1	12627567|12627567	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.152000|0.152000	0.21847|0.21847	0.474000|0.474000	0.22148|0.22148	0.494000|0.494000	0.27859|0.27859	0.313000|0.313000	0.20887|0.20887	CCG|CGC			0.612	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000344062.1				T	12766567	G	T	12766567	3	4	25	1	0	0	0	0	1	0	0	0	9232	1116	39	1	1308	1	MAN2B1	19	12766567	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	1302044	12766567	46362416	76	1692											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462655	50462655	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcttgctgctgggagccaAgcctgttctccgctcggcag	4	9	15	13	2	1	0	0	0	1	0	3	1	1	1	3	3	4	6	3	3	1	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr19:50462655A>G	ENST00000447370.2	-	5	1109	c.1019T>C	c.(1018-1020)cTt>cCt	p.L340P	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.L340P|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	340	Ig-like C2-type 2.				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)		CTGGGAGCCAAGCCTGTTCTC	0.677																																					p.L340P													.	SIGLEC11	70		0			c.T1019C												35	55	49					19																	50462655		1959	4292	6251	SO:0001583	missense	114132	exon5			GAGCCAAGCCTGT	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.1019T>C	19.37:g.50462655A>G	ENSP00000412361:p.Leu340Pro		98	0	0		75	0.04	3	NM_052884	0		0		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	9.009	0.982115	0.18889	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.68903	-0.36	1.61	1.61	0.23674	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.401214	0.18443	N	0.141083	T	0.81513	0.4838	M	0.92219	3.285	0.52099	D	0.99994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.79014	-0.1976	10	0.45353	T	0.12	.	5.3754	0.16162	1.0:0.0:0.0:0.0	.	340;340	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	P	340	ENSP00000412361:L340P	ENSP00000412361:L340P	L	-	2	0	SIGLEC11	55154467	0.009000	0.17119	0.774000	0.31636	0.049000	0.14656	2.053000	0.41326	0.993000	0.38866	0.529000	0.55759	CTT			0.677	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347382.1		NM_052884		G	50462655	A	G	50462655	3	3	25	1	0	0	0	0	1	0	0	0	14330	72	3	4	1105	4	SIGLEC11	19	50462655	Missense_Mutation	SNP	A	TCGA-2G-AAGA-01A-11D-A42Y-10	37696088	50462655	8666328	77	1693											
MOCS3	8813	mdanderson.org	37	chr20	49575689	49575689	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcgcagtacttggcagcgGccggcgtgggccgccttggc	4	7	17	13	5	0	0	0	0	0	0	0	0	0	0	3	5	3	3	3	5	2	4			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr20:49575689G>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.A104S|DPM1_ENST00000466152.1_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						CTTGGCAGCGGCCGGCGTGGG	0.682																																					p.A104S													.	.			0			c.G310T												35	45	41					20																	49575689		2180	4262	6442	SO:0001631	upstream_gene_variant	27304	exon1			GCAGCGGCCGGCG	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.49575689G>T	Exception_encountered		60	0	0		46	0.07	3	NM_014484	27	0	0	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460336	0.96240	.	.	ENSG00000124217	ENST00000244051	T	0.32272	1.46	6.08	6.08	0.98989	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.165616	0.53938	D	0.000060	T	0.54046	0.1834	M	0.72624	2.21	0.80722	D	1	D	0.57257	0.979	P	0.59889	0.865	T	0.44251	-0.9340	9	.	.	.	-6.4354	20.2585	0.98435	0.0:0.0:1.0:0.0	.	104	O95396	MOCS3_HUMAN	S	104	ENSP00000244051:A104S	.	A	+	1	0	MOCS3	49009096	1.000000	0.71417	0.975000	0.42487	0.950000	0.60333	7.840000	0.86819	2.894000	0.99253	0.655000	0.94253	GCC			0.682	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079716.1		NM_003859		T	49575689	G	T	49575689	1	4	25	0	1	0	0	0	0	0	0	0	9708	1203	42	2		2	MOCS3	20	49575689	5'Flank	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		49575689	13449831	78	1694											
RIMBP3	85376	mdanderson.org	37	chr22	20460125	20460125	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgttctccgcttgcagggTataacagcggcgcgccagca	7	9	12	13	4	1	0	0	0	1	0	2	0	1	0	2	2	4	5	2	2	2	5			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr22:20460125T>G	ENST00000426804.1	-	1	1661	c.1177A>C	c.(1177-1179)Acc>Ccc	p.T393P		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	393										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCTTGCAGGGTATAACAGCGG	0.652																																					p.T393P													.	.			0			c.A1177C												19	18	18					22																	20460125		1124	1692	2816	SO:0001583	missense	85376	exon1			GCAGGGTATAACA	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1177A>C	22.37:g.20460125T>G	ENSP00000391564:p.Thr393Pro		127	0.0157480315	2		51	0.08	4	NM_015672	5	0	0	Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	t	8.941	0.965836	0.18583	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.19250	2.16	2.64	-1.04	0.10068	.	0.797289	0.10926	U	0.618957	T	0.10078	0.0247	N	0.14661	0.345	0.09310	N	1	B	0.24483	0.104	B	0.23150	0.044	T	0.29243	-1.0018	10	0.42905	T	0.14	0.9862	4.2421	0.10654	0.0:0.549:0.193:0.2579	.	299	Q9UFD9	RIM3A_HUMAN	P	299;393	ENSP00000391564:T393P	ENSP00000347318:T299P	T	-	1	0	RIMBP3	18840125	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.446000	0.21694	-0.114000	0.11936	-0.508000	0.04489	ACC			0.652	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318945.2		NM_015672		G	20460125	T	G	20460125	3	3	25	1	0	0	0	0	1	0	0	0	13387	1638	57	4	3746	4	RIMBP3	22	20460125	Missense_Mutation	SNP	T	TCGA-2G-AAGA-01A-11D-A42Y-10		20460125	30844441	79	1695											
CBY1	25776	mdanderson.org	37	chr22	39067165	39067165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaacaatctcttgcGgctgaaagtggacatcttat	13	10	11	7	1	2	2	0	1	2	1	3	5	2	4	0	3	2	1	0	3	5	2	rs140554782		TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr22:39067165G>T	ENST00000216029.3	+	4	409	c.275G>T	c.(274-276)cGg>cTg	p.R92L	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	92	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AATCTCTTGCGGCTGAAAGTG	0.562																																					p.R135L													.	.			0			c.G404T												137	132	133					22																	39067165		2203	4300	6503	SO:0001583	missense	25776	exon5			TCTTGCGGCTGAA	BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"chibby CTNNB1-mediated transcription inhibitor"	607757	"chromosome 22 open reading frame 2", "PKD2 interactor, golgi and endoplasmic reticulum associated 1"	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.275G>T	22.37:g.39067165G>T	ENSP00000216029:p.Arg92Leu		70	0	0		47	0.06	3	NM_001002880	72	0	0	B2R4S2|Q66GT6|Q9UIK9	Missense_Mutation	SNP	ENST00000216029.3	37	CCDS13974.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152406	0.78001	.	.	ENSG00000100211	ENST00000396811;ENST00000216029;ENST00000416285	.	.	.	5.66	4.65	0.58169	.	0.098253	0.64402	D	0.000005	T	0.58250	0.2109	L	0.59436	1.845	0.47009	D	0.999285	P	0.48640	0.913	B	0.44133	0.442	T	0.64816	-0.6318	9	0.87932	D	0	.	14.6069	0.68486	0.0701:0.0:0.9299:0.0	.	92	Q9Y3M2	CBY1_HUMAN	L	92	.	ENSP00000216029:R92L	R	+	2	0	CBY1	37397111	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.813000	0.62620	1.399000	0.46721	0.557000	0.71058	CGG			0.562	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320832.1		NM_015373		T	39067165	G	T	39067165	3	4	25	1	0	0	0	0	1	0	0	0	2727	1116	39	1	285	1	CBY1	22	39067165	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	18607040	39067165	12237401	80	1696											
CERK	64781	mdanderson.org	37	chr22	47083093	47083093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagagtcgaaccagctGgcagtggactctgcagagac	12	6	13	10	1	1	2	0	0	1	2	2	5	1	3	1	2	4	4	1	2	2	0			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chr22:47083093G>T	ENST00000216264.8	-	13	1664	c.1552C>A	c.(1552-1554)Cag>Aag	p.Q518K	CERK_ENST00000471929.1_5'Flank|CERK_ENST00000541677.1_Missense_Mutation_p.Q320K	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	518					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGAACCAGCTGGCAGTGGACT	0.567																																					p.Q518K													.	.			0			c.C1552A												59	58	59					22																	47083093		2203	4300	6503	SO:0001583	missense	64781	exon13			CCAGCTGGCAGTG	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1552C>A	22.37:g.47083093G>T	ENSP00000216264:p.Gln518Lys		40	0	0		48	0.06	3	NM_022766	40	0	0	A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.919778	0.92249	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.12879	2.64;2.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	M	0.79805	2.47	0.80722	D	1	P	0.45986	0.87	P	0.47251	0.542	T	0.04930	-1.0917	10	0.33940	T	0.23	-15.7133	17.0303	0.86459	0.0:0.0:1.0:0.0	.	518	Q8TCT0	CERK1_HUMAN	K	518;320	ENSP00000216264:Q518K;ENSP00000438659:Q320K	ENSP00000216264:Q518K	Q	-	1	0	CERK	45461757	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.463000	0.90377	2.335000	0.79485	0.563000	0.77884	CAG			0.567	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317924.2		NM_022766		T	47083093	G	T	47083093	3	4	25	1	0	0	0	0	1	0	0	0	3269	1357	47	3	65	3	CERK	22	47083093	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	8015928	47083093	4221473	81	1697											
GPR64	10149	broad.mit.edu	37	chrX	19026144	19026144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattgaactgaaccctggaaGctagctccatgtcatgagct	12	10	9	10	0	1	3	1	3	0	0	2	4	2	4	2	1	5	3	2	1	5	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chrX:19026144G>T	ENST00000379869.3	-	19	1683	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	GPR64_ENST00000356606.4_Missense_Mutation_p.A493D|GPR64_ENST00000379876.1_Missense_Mutation_p.A483D|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000357991.3_Missense_Mutation_p.A504D|GPR64_ENST00000379873.2_Missense_Mutation_p.A507D|GPR64_ENST00000360279.4_Missense_Mutation_p.A485D|GPR64_ENST00000354791.3_Missense_Mutation_p.A491D|GPR64_ENST00000379878.3_Missense_Mutation_p.A491D|GPR64_ENST00000357544.3_Missense_Mutation_p.A477D	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	507					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AACCCTGGAAGCTAGCTCCAT	0.433																																					p.A507D													.	GPR64	102		0			c.C1520A												85	74	78					X																	19026144		2203	4300	6503	SO:0001583	missense	10149	exon19			CTGGAAGCTAGCT	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1520C>A	X.37:g.19026144G>T	ENSP00000369198:p.Ala507Asp		162	0	0		268	0.01	4	NM_001184834	11	0	0	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199862	0.79015	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606	T;T;T;T;T;T;T;T;T	0.35236	1.32;1.43;1.43;1.44;1.44;1.47;1.44;1.47;1.47	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000025	T	0.62563	0.2438	M	0.69823	2.125	0.54753	D	0.999985	P;D;D;D;D;D;D;D;D;D	0.89917	0.729;1.0;0.997;0.997;1.0;1.0;1.0;1.0;0.994;1.0	B;D;D;D;D;D;D;D;D;D	0.87578	0.437;0.997;0.963;0.963;0.998;0.998;0.997;0.997;0.92;0.996	T	0.64807	-0.6320	10	0.87932	D	0	.	19.1445	0.93459	0.0:0.0:1.0:0.0	.	469;477;483;491;507;485;493;504;507;491	Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;GPR64_HUMAN;.	D	507;491;491;483;477;507;485;504;493	ENSP00000369202:A507D;ENSP00000369207:A491D;ENSP00000346845:A491D;ENSP00000369205:A483D;ENSP00000350152:A477D;ENSP00000369198:A507D;ENSP00000353421:A485D;ENSP00000350680:A504D;ENSP00000349015:A493D	ENSP00000346845:A491D	A	-	2	0	GPR64	18936065	1.000000	0.71417	0.994000	0.49952	0.864000	0.49448	4.682000	0.61671	2.471000	0.83476	0.600000	0.82982	GCT			0.433	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000055970.2				T	19026144	G	T	19026144	3	4	25	1	0	0	0	0	1	0	0	0	6719	971	34	2	1577	2	GPR64	23	19026144	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10		19026144	136244416	82	1698											
EIF1AX	1964	broad.mit.edu	37	chrX	20148690	20148690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgaatttcatcatcatCtccaggaccaaatgtatcag	15	11	5	10	0	5	1	4	1	1	0	6	2	5	2	2	1	1	1	2	1	4	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chrX:20148690C>A	ENST00000379607.5	-	6	576	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	EIF1AX_ENST00000379593.1_Missense_Mutation_p.D97Y	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	125					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						TCATCATCATCTCCAGGACCA	0.323																																					p.D125Y													.	EIF1AX	21		0			c.G373T												169	135	147					X																	20148690		2203	4297	6500	SO:0001583	missense	1964	exon6			CATCATCTCCAGG	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.373G>T	X.37:g.20148690C>A	ENSP00000368927:p.Asp125Tyr		282	0	0		462	0.02	7	NM_001412	276	0.01	4	B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458351	0.63401	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.47177	0.85;0.85	4.82	4.82	0.62117	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.66458	0.2791	M	0.64170	1.965	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.69030	-0.5253	9	0.52906	T	0.07	-17.661	17.1436	0.86760	0.0:1.0:0.0:0.0	.	125	P47813	IF1AX_HUMAN	Y	125;97	ENSP00000368927:D125Y;ENSP00000368912:D97Y	ENSP00000368912:D97Y	D	-	1	0	EIF1AX	20058611	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.087000	0.76893	1.967000	0.57214	0.594000	0.82650	GAT			0.323	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058913.1				A	20148690	C	A	20148690	3	1	25	1	0	0	0	0	1	0	0	0	4997	913	32	3	69	3	EIF1AX	23	20148690	Missense_Mutation	SNP	C	TCGA-2G-AAGA-01A-11D-A42Y-10	1122546	20148690	135121870	83	1699											
WDR45	11152	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	48935722	48935722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtcttggttgaaacgcagGctggtcactcctcgaagtgg	7	11	14	9	2	2	1	1	1	1	0	4	2	3	1	1	5	1	3	1	5	2	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chrX:48935722G>C	ENST00000376372.3	-	2	214	c.33C>G	c.(31-33)agC>agG	p.S11R	WDR45_ENST00000465431.1_5'UTR|WDR45_ENST00000376368.2_Missense_Mutation_p.S11R|WDR45_ENST00000322995.8_Missense_Mutation_p.S11R|WDR45_ENST00000473974.1_Missense_Mutation_p.S11R|WDR45_ENST00000485908.1_Missense_Mutation_p.S11R|AF196779.12_ENST00000376358.3_Missense_Mutation_p.S11R|WDR45_ENST00000553851.1_Missense_Mutation_p.S11R|WDR45_ENST00000396681.4_Missense_Mutation_p.S11R|WDR45_ENST00000356463.3_Missense_Mutation_p.S11R	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	11					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						TGAAACGCAGGCTGGTCACTC	0.537																																					p.S11R													.	.			0			c.C33G												141	99	113					X																	48935722		2203	4300	6503	SO:0001583	missense	11152	exon3			ACGCAGGCTGGTC	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.33C>G	X.37:g.48935722G>C	ENSP00000365551:p.Ser11Arg		69	0	0		93	0.08	7	NM_007075	110	0.02	2	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046870	0.36085	.	.	ENSG00000196998;ENSG00000196998;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;ENST00000465382;ENST00000423215;ENST00000376358	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	2.13;0.9;0.9;0.9;0.52;0.9;0.9;0.9;0.9;0.4;0.9;0.9;0.52;0.9;1.38;2.13	4.04	2.18	0.27775	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.110748	0.64402	D	0.000011	T	0.58935	0.2157	L	0.46157	1.445	0.24768	N	0.992881	P;D;P;P;P;P;B	0.61697	0.955;0.99;0.907;0.842;0.681;0.677;0.014	P;D;B;P;P;P;B	0.66497	0.702;0.944;0.372;0.452;0.503;0.452;0.097	T	0.50162	-0.8860	10	0.87932	D	0	-16.6748	7.3314	0.26584	0.2364:0.0:0.7636:0.0	.	11;11;11;11;11;11;11	B4DVH6;A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;.;WIPI4_HUMAN	R	11	ENSP00000451962:S11R;ENSP00000365551:S11R;ENSP00000365543:S11R;ENSP00000348848:S11R;ENSP00000419897:S11R;ENSP00000417211:S11R;ENSP00000365546:S11R;ENSP00000379913:S11R;ENSP00000418466:S11R;ENSP00000418919:S11R;ENSP00000420728:S11R;ENSP00000393640:S11R;ENSP00000419324:S11R;ENSP00000420534:S11R;ENSP00000397657:S11R;ENSP00000365536:S11R	ENSP00000365536:S11R	S	-	3	2	AF196779.12;WDR45	48822666	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	1.048000	0.30379	0.270000	0.21984	0.468000	0.43344	AGC			0.537	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000083418.2		NM_007075		C	48935722	G	C	48935722	3	2	25	1	0	0	0	0	1	0	0	0	17321	1194	42	5	1092	5	WDR45	23	48935722	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	28787032	48935722	106334838	84	1700											
SPIN3	169981	broad.mit.edu	37	chrX	57020933	57020933	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcctgagctaagaccaTccccctccattcatttttgg	8	12	8	13	0	1	2	1	1	0	1	3	2	3	2	5	2	2	1	5	2	1	4			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chrX:57020933T>C	ENST00000374919.3	-	2	770	c.448A>G	c.(448-450)Atg>Gtg	p.M150V		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	150					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GCTAAGACCATCCCCCTCCAT	0.383																																					p.M150V													.	SPIN3	33		0			c.A448G												131	128	129					X																	57020933		2157	4261	6418	SO:0001583	missense	169981	exon2			AGACCATCCCCCT	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.448A>G	X.37:g.57020933T>C	ENSP00000364054:p.Met150Val		94	0.0212765957	2		211	0.03	7	NM_001010862	3	0	0	B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808669	0.31961	.	.	ENSG00000204271	ENST00000374919	T	0.45276	0.9	2.45	2.45	0.29901	.	0.000000	0.64402	U	0.000001	T	0.34250	0.0891	L	0.41573	1.285	0.34752	D	0.731888	P	0.42375	0.778	P	0.45276	0.475	T	0.40831	-0.9542	10	0.25106	T	0.35	-4.9335	8.0376	0.30502	0.0:0.0:0.0:1.0	.	150	Q5JUX0	SPIN3_HUMAN	V	150	ENSP00000364054:M150V	ENSP00000364054:M150V	M	-	1	0	SPIN3	57037658	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.662000	0.61525	1.229000	0.43630	0.486000	0.48141	ATG			0.383	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056908.1		XM_093024		C	57020933	T	C	57020933	3	2	25	1	0	0	0	0	1	0	0	0	15078	1435	50	4	332	4	SPIN3	23	57020933	Missense_Mutation	SNP	T	TCGA-2G-AAGA-01A-11D-A42Y-10	8085211	57020933	98249627	85	1701											
HMGB3	3149	mdanderson.org	37	chrX	150156378	150156378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaataaagaaactgttt	16	6	18	1	0	0	2	0	1	0	1	0	10	0	9	0	7	1	1	0	7	4	2			TCGA-2G-AAGA-01A-11D-A42Y-10	TCGA-2G-AAGA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6892b-86ee-426c-9e0b-583e6831cc56	f5daa72a-daaa-4cf0-bdc9-fde932b3440e	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				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)					aggaggaggaggaTGAATAAA	0.463																																					p.E198D													.	.			0			c.G594T												49	48	49					X																	150156378		2203	4299	6502	SO:0001583	missense	3149	exon5			GGAGGAGGATGAA	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.594G>T	X.37:g.150156378G>T	ENSP00000359393:p.Glu198Asp		10	0	0		19	0.11	2	NM_005342	163	0	0	O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	0.347	-0.947364	0.02304	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	T;T	0.35048	1.33;1.33	4.84	-6.29	0.02013	.	0.320496	0.22526	N	0.058902	T	0.10208	0.0250	N	0.08118	0	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	.	.	.	.	0.6043	0.00750	0.3103:0.1878:0.1198:0.3821	.	198	O15347	HMGB3_HUMAN	D	198	ENSP00000359393:E198D;ENSP00000442758:E198D	.	E	+	3	2	HMGB3	149907036	0.210000	0.23517	0.059000	0.19551	0.160000	0.22226	0.068000	0.14531	-1.155000	0.02822	0.600000	0.82982	GAG			0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060867.1		NM_005342		T	150156378	G	T	150156378	3	4	25	1	0	0	0	0	1	0	0	0	7242	991	35	3	608	3	HMGB3	23	150156378	Missense_Mutation	SNP	G	TCGA-2G-AAGA-01A-11D-A42Y-10	93135445	150156378	5114182	86	1702											
PLEKHN1	84069	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	906518	906518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaacccggctgcggacggCgtcagggcacgaacccggcg	7	4	15	15	7	2	0	1	0	1	0	2	2	2	1	2	5	3	2	2	5	2	1	rs199724483		TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr1:906518C>T	ENST00000379409.2	+	6	824	c.794C>T	c.(793-795)gCg>gTg	p.A265V	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.A225V|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.A213V			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	265										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)		CTGCGGACGGCGTCAGGGCAC	0.692													C|||	1	0.000199681	8e-04	0	5008	,	,		11748	0		0	False		,,,				2504	0				p.A225V													PLEKHN1,NS,carcinoma,0,1	PLEKHN1	0	1	0			c.C674T																																									SO:0001583	missense	84069	exon7			GGACGGCGTCAGG	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.794C>T	1.37:g.906518C>T	ENSP00000368719:p.Ala265Val		76	0	0		77	0.06	5	NM_001160184	1	0	0	Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37		4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	7.867	0.727229	0.15439	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.52526	0.66;0.76;0.7	4.55	-1.28	0.09318	.	0.483412	0.19714	N	0.107751	T	0.21718	0.0523	L	0.44542	1.39	0.09310	N	1	B;B;B	0.23891	0.009;0.093;0.093	B;B;B	0.14578	0.008;0.011;0.011	T	0.11324	-1.0592	10	0.49607	T	0.09	.	0.9855	0.01445	0.1399:0.3513:0.2061:0.3027	.	225;265;213	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	V	213;225;265	ENSP00000368720:A213V;ENSP00000368717:A225V;ENSP00000368719:A265V	ENSP00000368717:A225V	A	+	2	0	PLEKHN1	896381	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.721000	0.04963	-0.068000	0.12953	0.387000	0.25754	GCG	0.002		0.692	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000473256.1		NM_032129		T	906518	C	T	906518	3	4	26	1	0	0	0	0	1	0	0	0	12100	768	27	1	700	1	PLEKHN1	1	906518	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10		906518	248344103	1	1703											
TP73	7161	ucsc.edu	37	chr1	3644260	3644260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggccgcgaccgaaaagCtgatgaggaccactaccggg	10	5	13	13	4	0	2	0	2	0	0	1	5	1	3	5	3	2	1	5	3	3	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr1:3644260C>T	ENST00000378295.4	+	8	1066	c.911C>T	c.(910-912)gCt>gTt	p.A304V	TP73_ENST00000378290.4_Missense_Mutation_p.A233V|TP73_ENST00000604479.1_Missense_Mutation_p.A304V|TP73_ENST00000378288.4_Missense_Mutation_p.A255V|TP73_ENST00000604074.1_Missense_Mutation_p.A304V|TP73_ENST00000378285.1_Missense_Mutation_p.A255V|TP73_ENST00000603362.1_Missense_Mutation_p.A304V|TP73_ENST00000378280.1_Missense_Mutation_p.A255V|TP73_ENST00000346387.4_Missense_Mutation_p.A304V|TP73_ENST00000354437.4_Missense_Mutation_p.A304V|TP73_ENST00000357733.3_Missense_Mutation_p.A304V	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	304	DNA-binding. {ECO:0000255}.				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)		GACCGAAAAGCTGATGAGGAC	0.677																																					p.A304V													.	TP73	54		0			c.C911T												18	20	19					1																	3644260		2174	4280	6454	SO:0001583	missense	7161	exon8			GAAAAGCTGATGA	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.911C>T	1.37:g.3644260C>T	ENSP00000367545:p.Ala304Val		35	0	0		34	0.12	4	NM_005427	7	0	0	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485101	0.63962	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99795	-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78	4.57	4.57	0.56435	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D	0.71674	0.99;0.998;0.979;0.988;0.994;0.99	P;P;P;B;P;P	0.62435	0.665;0.902;0.506;0.432;0.77;0.726	D	0.97679	1.0171	10	0.62326	D	0.03	-12.9723	16.3785	0.83418	0.0:1.0:0.0:0.0	.	255;255;255;255;304;304	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	V	304;304;304;304;255;255;255;233	ENSP00000367545:A304V;ENSP00000346423:A304V;ENSP00000350366:A304V;ENSP00000340740:A304V;ENSP00000367537:A255V;ENSP00000367534:A255V;ENSP00000367529:A255V;ENSP00000367539:A233V	ENSP00000340740:A304V	A	+	2	0	TP73	3634120	1.000000	0.71417	0.116000	0.21606	0.030000	0.12068	7.553000	0.82203	2.096000	0.63516	0.466000	0.42574	GCT			0.677	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001468.4		NM_005427		T	3644260	C	T	3644260	3	4	26	1	0	0	0	0	1	0	0	0	16417	797	28	2	980	2	TP73	1	3644260	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	2737742	3644260	245606361	2	1704											
SERINC2	347735	mdanderson.org	37	chr1	31898760	31898760	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcccgtgcctggtacgcaGgtcagtgctgccaccctgcc	5	9	11	16	2	1	0	1	0	0	0	2	0	2	0	5	2	5	3	5	2	1	2			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr1:31898760G>T	ENST00000373709.3	+	5	760	c.610G>T	c.(610-612)Ggc>Tgc	p.G204C	SERINC2_ENST00000536384.1_Splice_Site_p.G208C|SERINC2_ENST00000373710.1_Splice_Site_p.G213C|SERINC2_ENST00000536859.1_Splice_Site_p.G208C|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	204					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		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;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGGTACGCAGGTCAGTGCTG	0.632																																					p.G213C													.	.			0			c.G637T												56	40	45					1																	31898760		2203	4300	6503	SO:0001630	splice_region_variant	347735	exon6			TACGCAGGTCAGT	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.610+1G>T	1.37:g.31898760G>T			38	0	0		41	0.07	3	NM_001199038	41	0	0	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664271	0.67700	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	4.11	4.11	0.48088	.	0.178652	0.47852	D	0.000213	T	0.34658	0.0905	M	0.63843	1.955	0.80722	D	1	D;D;D	0.71674	0.996;0.996;0.998	D;D;D	0.72075	0.95;0.95;0.976	T	0.16958	-1.0385	10	0.87932	D	0	-30.2265	16.4667	0.84081	0.0:0.0:1.0:0.0	.	208;213;204	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	C	213;208;204;208	ENSP00000362814:G213C;ENSP00000444307:G208C;ENSP00000362813:G204C;ENSP00000439048:G208C	ENSP00000362813:G204C	G	+	1	0	SERINC2	31671347	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	9.523000	0.98034	2.290000	0.77057	0.491000	0.48974	GGC			0.632	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010680.1		NM_018565	Missense_Mutation	T	31898760	G	T	31898760	5	4	26	1	0	0	0	0	0	0	1	0	14103	1014	35	3	628	3	SERINC2	1	31898760	Splice_Site	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	28254500	31898760	217351861	3	1705											
GJA9	81025	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	39340765	39340766	+	Frame_Shift_Del	DEL	GT	GT	-																															atgactacaactagtactaaGtgtggaaatctcattagaaa																										TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	GT	GT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr1:39340765_39340766delGT	ENST00000360786.3	-	1	1257_1258	c.1005_1006delAC	c.(1003-1008)acacttfs	p.L336fs	RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Frame_Shift_Del_p.L336fs|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Frame_Shift_Del_p.L336fs|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	336					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTAGTACTAAGTGTGGAAATCT	0.327																																					p.336_336del													.	GJA9	55		0			c.1006_1007del																																									SO:0001589	frameshift_variant	81025	exon2			TACTAAGTGTGGA	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1005_1006delAC	1.37:g.39340767_39340768delGT	ENSP00000354020:p.Leu336fs		114	0	0		142	0.23	33	NM_030772	0		0	B2R722|B3KVQ2|Q5TA63|Q96KG0	Frame_Shift_Del	DEL	ENST00000360786.3	37	CCDS432.1																																																																																					0.327	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001205.1		NM_030772		-	39340766	GT	-	39340765	7	5	26	1	0	1	0	1	0	0	0	0	6420	1029	36	0	545	0	GJA9	1	39340765	Frame_Shift_Del	DEL	GT	TCGA-2G-AAGC-01A-21D-A42Y-10	7442005	39340765	209909856	4	1706											
PTBP2	58155	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	97235325	97235325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgctccttctcgtgtacTtcatattcgaaaattacctg	8	16	7	10	2	2	0	1	0	1	0	5	1	3	0	2	1	3	2	2	1	5	6			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr1:97235325T>A	ENST00000426398.2	+	4	225	c.182T>A	c.(181-183)cTt>cAt	p.L61H	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Missense_Mutation_p.L61H|PTBP2_ENST00000370197.1_Missense_Mutation_p.L61H|PTBP2_ENST00000541987.1_Missense_Mutation_p.L30H|PTBP2_ENST00000394184.3_Missense_Mutation_p.L72H|PTBP2_ENST00000370198.1_Missense_Mutation_p.L61H	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	61	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCTCGTGTACTTCATATTCGA	0.343																																					p.L61H													.	.			0			c.T182A												118	128	124					1																	97235325		2203	4300	6503	SO:0001583	missense	58155	exon4			GTGTACTTCATAT	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.182T>A	1.37:g.97235325T>A	ENSP00000412788:p.Leu61His		192	0	0		209	0.26	55	NM_021190	33	0.45	15	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	CCDS754.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867112	0.91511	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.81330	0.6;0.61;0.61;0.6;0.61;-1.48	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.130636	0.53938	D	0.000057	D	0.89757	0.6807	M	0.88450	2.955	0.58432	D	0.999998	D;D;D;D;D;D;D	0.76494	0.996;0.975;0.985;0.996;0.998;0.998;0.999	D;P;P;D;D;D;D	0.70016	0.91;0.62;0.601;0.928;0.967;0.967;0.957	D	0.91717	0.5386	10	0.87932	D	0	-4.2011	16.4075	0.83691	0.0:0.0:0.0:1.0	.	69;72;61;61;61;61;83	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3;Q59G43	.;.;.;PTBP2_HUMAN;.;.;.	H	61;61;61;61;72;30;51	ENSP00000236228:L61H;ENSP00000359217:L61H;ENSP00000359216:L61H;ENSP00000412788:L61H;ENSP00000377738:L72H;ENSP00000442475:L30H	ENSP00000236228:L61H	L	+	2	0	PTBP2	97007913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	2.275000	0.75901	0.528000	0.53228	CTT			0.343	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000029453.1				A	97235325	T	A	97235325	3	1	26	1	0	0	0	0	1	0	0	0	12746	1609	56	5	196	5	PTBP2	1	97235325	Missense_Mutation	SNP	T	TCGA-2G-AAGC-01A-21D-A42Y-10	57894560	97235325	152015296	5	1707											
POGZ	23126	broad.mit.edu	37	chr1	151378739	151378739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaagggctaaagcctgCgggtgagtgggggttggtgg	6	8	23	4	1	0	1	0	1	0	0	0	2	0	2	1	8	2	2	1	8	3	2			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr1:151378739C>T	ENST00000271715.2	-	19	3086	c.2772G>A	c.(2770-2772)ccG>ccA	p.P924P	POGZ_ENST00000531094.1_Silent_p.P862P|POGZ_ENST00000392723.1_Silent_p.P871P|POGZ_ENST00000368863.2_Silent_p.P829P|POGZ_ENST00000361398.3_Silent_p.P871P|POGZ_ENST00000409503.1_Silent_p.P915P|POGZ_ENST00000491586.1_Silent_p.P880P|POGZ_ENST00000540984.1_Silent_p.P286P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	924	Pro-rich.				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)			CTAAAGCCTGCGGGTGAGTGG	0.592																																					p.P924P													POGZ_ENST00000491586,NS,carcinoma,0,2	POGZ	211	2	0			c.G2772A												77	76	76					1																	151378739		2203	4300	6503	SO:0001819	synonymous_variant	23126	exon19			AGCCTGCGGGTGA	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.2772G>A	1.37:g.151378739C>T			186	0	0		189	0.02	4	NM_015100	129	0.01	1	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	CCDS997.1																																																																																					0.592	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000034915.2		NM_207171		T	151378739	C	T	151378739	2	4	26	1	0	0	0	0	0	0	0	1	12203	755	27	1		1	POGZ	1	151378739	Silent	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	54143414	151378739	97871882	6	1708											
FCRLB	127943	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	161693309	161693309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttgggccacctacttctgCcctctcacaagaagagcatt	10	11	7	13	0	2	2	1	0	2	2	3	2	2	2	3	1	3	1	3	1	3	4			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr1:161693309C>T	ENST00000367948.2	+	5	420	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	FCRLB_ENST00000367946.3_Missense_Mutation_p.P69S|FCRLB_ENST00000392158.1_Missense_Mutation_p.P69S|FCRLB_ENST00000336830.5_Missense_Mutation_p.P69S|FCRLB_ENST00000367944.3_Missense_Mutation_p.P62S|FCRLB_ENST00000367945.1_Missense_Mutation_p.P62S			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	69	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCTACTTCTGCCCTCTCACAA	0.562																																					p.P69S													FCRLB,NS,carcinoma,-2,1	FCRLB	-2	1	0			c.C205T												113	105	108					1																	161693309		2203	4300	6503	SO:0001583	missense	127943	exon3			CTTCTGCCCTCTC	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.205C>T	1.37:g.161693309C>T	ENSP00000356925:p.Pro69Ser		201	0.0049751244	1		177	0.19	33	NM_001002901	0		0	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995916	0.74703	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	5.61	4.64	0.57946	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126603	0.36409	N	0.002619	T	0.09555	0.0235	N	0.21583	0.68	0.35270	D	0.780351	P;D;D;D;D	0.76494	0.949;0.999;0.986;0.999;0.997	B;P;P;P;D	0.63033	0.31;0.896;0.793;0.896;0.91	T	0.06770	-1.0808	10	0.44086	T	0.13	.	11.6703	0.51396	0.0:0.8217:0.1782:0.0	.	62;62;69;69;69	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	S	69;69;62;69;62;69	ENSP00000356925:P69S;ENSP00000356923:P69S;ENSP00000356922:P62S;ENSP00000338598:P69S;ENSP00000356921:P62S;ENSP00000375999:P69S	ENSP00000338598:P69S	P	+	1	0	FCRLB	159959933	0.987000	0.35691	0.998000	0.56505	0.922000	0.55478	1.899000	0.39818	2.629000	0.89072	0.655000	0.94253	CCC			0.562	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083585.1		NM_152378		T	161693309	C	T	161693309	3	4	26	1	0	0	0	0	1	0	0	0	5814	739	26	2	215	2	FCRLB	1	161693309	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	10314570	161693309	87557312	7	1709											
MOGS	7841	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	74691780	74691780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatagggacccacaccgTccccctgctcacacgtgtgc	8	6	9	18	2	1	0	1	0	0	0	2	1	2	1	5	1	3	1	5	1	1	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr2:74691780T>C	ENST00000233616.4	-	2	584	c.422A>G	c.(421-423)gAc>gGc	p.D141G	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.D35G|MOGS_ENST00000409065.1_Missense_Mutation_p.D141G	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	141					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACCCACACCGTCCCCCTGCTC	0.622																																					p.D141G													.	.			0			c.A422G												57	63	61					2																	74691780		1946	4152	6098	SO:0001583	missense	7841	exon2			ACACCGTCCCCCT	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.422A>G	2.37:g.74691780T>C	ENSP00000233616:p.Asp141Gly		145	0	0		142	0.04	6	NM_006302	113	0	0	A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	T	33	5.235878	0.95240	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000409065;ENST00000448666;ENST00000414701	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81890	-0.0725	10	0.87932	D	0	-25.6368	13.3999	0.60876	0.0:0.0:0.0:1.0	.	141	Q13724	MOGS_HUMAN	G	141;35;141;35;22	ENSP00000233616:D141G;ENSP00000388201:D35G;ENSP00000386493:D141G;ENSP00000410992:D35G;ENSP00000396298:D22G	ENSP00000233616:D141G	D	-	2	0	MOGS	74545288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.775000	0.75018	2.254000	0.74563	0.533000	0.62120	GAC			0.622	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328382.1		NM_006302		C	74691780	T	C	74691780	3	2	26	1	0	0	0	0	1	0	0	0	9713	1667	58	4	2103	4	MOGS	2	74691780	Missense_Mutation	SNP	T	TCGA-2G-AAGC-01A-21D-A42Y-10		74691780	168507593	8	1710											
CCDC142	84865	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	74709738	74709738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccacctgcgggccccCgcctccaggccgcagcatca	5	3	12	21	4	1	0	1	0	0	0	2	0	2	0	8	3	2	2	8	3	0	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr2:74709738C>T	ENST00000393965.3	-	1	623	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000410003.1_5'Flank|CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.R76Q|TTC31_ENST00000233623.5_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	76										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TGCGGGCCCCCGCCTCCAGGC	0.731																																					p.R76Q													.	.			0			c.G227A												14	16	15					2																	74709738		2080	4122	6202	SO:0001583	missense	84865	exon1			GGCCCCCGCCTCC	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.227G>A	2.37:g.74709738C>T	ENSP00000377537:p.Arg76Gln		54	0	0		54	0.22	12	NM_032779	3	0.33	1	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37		.	.	.	.	.	.	.	.	.	.	C	12.44	1.937509	0.34189	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.85629	-2.01;-2.01	4.44	-4.25	0.03766	.	1.083790	0.07243	N	0.864514	T	0.56441	0.1985	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.15473	0.013;0.013;0.013	B;B;B	0.06405	0.002;0.002;0.002	T	0.47548	-0.9109	9	.	.	.	-3.2453	2.0696	0.03610	0.1321:0.272:0.13:0.4658	.	76;76;76	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	Q	76	ENSP00000377537:R76Q;ENSP00000290418:R76Q	.	R	-	2	0	CCDC142	74563246	0.000000	0.05858	0.177000	0.23020	0.007000	0.05969	-0.515000	0.06290	-0.900000	0.03896	-0.254000	0.11334	CGG			0.731	CCDC142-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000328391.1		NM_032779		T	74709738	C	T	74709738	3	4	26	1	0	0	0	0	1	0	0	0	2778	652	23	1	2040	1	CCDC142	2	74709738	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	17958	74709738	168489635	9	1711											
C2orf57	165100	mdanderson.org	37	chr2	232457786	232457786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcagtgagcagctctgtcGcatccactgactggcaggat	8	9	13	11	1	1	2	0	2	1	0	3	3	2	3	1	3	2	5	1	3	0	0	rs369074059		TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr2:232457786G>A	ENST00000313965.2	+	1	212	c.124G>A	c.(124-126)Gca>Aca	p.A42T		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	42										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CAGCTCTGTCGCATCCACTGA	0.567																																					p.A42T													.	.			0			c.G124A							G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	111	108	109		124	2.7	0	2		109	0,8600		0,0,4300	no	missense	C2orf57	NM_152614.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	42/396	232457786	1,13005	2203	4300	6503	SO:0001583	missense	165100	exon1			TCTGTCGCATCCA	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.124G>A	2.37:g.232457786G>A	ENSP00000315557:p.Ala42Thr		86	0	0		110	0.05	5	NM_152614	0		0	Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	g	14.59	2.580962	0.46006	2.27E-4	0.0	ENSG00000177673	ENST00000313965	T	0.23552	1.9	4.46	2.66	0.31614	.	1.284760	0.06027	N	0.652465	T	0.16128	0.0388	N	0.19112	0.55	0.09310	N	1	P	0.44195	0.828	B	0.40009	0.316	T	0.12578	-1.0542	10	0.13853	T	0.58	-0.6575	7.0308	0.24967	0.2091:0.0:0.7909:0.0	.	42	Q53QW1	CB057_HUMAN	T	42	ENSP00000315557:A42T	ENSP00000315557:A42T	A	+	1	0	C2orf57	232166030	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.584000	0.23864	0.627000	0.30340	-0.379000	0.06801	GCA			0.567	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256962.1		NM_152614		A	232457786	G	A	232457786	3	1	26	1	0	0	0	0	1	0	0	0	2180	1087	38	1	126	1	C2orf57	2	232457786	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	157748048	232457786	10741587	10	1712											
AQP12B	653437	mdanderson.org	37	chr2	241621835	241621835	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaggctctgcagcaggtgCaggtcactgagctcccaggc	8	7	14	12	0	2	2	1	2	1	0	3	2	3	2	1	4	4	5	1	4	0	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr2:241621835C>A	ENST00000407834.3	-	1	482	c.420G>T	c.(418-420)ctG>ctT	p.L140L		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	128						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|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;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCAGCAGGTGCAGGTCACTGA	0.701																																					p.L140L													.	.			0			c.G420T												13	14	13					2																	241621835		2177	4220	6397	SO:0001819	synonymous_variant	653437	exon1			CAGGTGCAGGTCA	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.420G>T	2.37:g.241621835C>A			37	0	0		47	0.06	3	NM_001102467	0		0	A4QPB9	Silent	SNP	ENST00000407834.3	37	CCDS46560.1																																																																																					0.701	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325625.1				A	241621835	C	A	241621835	2	1	26	1	0	0	0	0	0	0	0	1	825	697	25	2		2	AQP12B	2	241621835	Silent	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	9164049	241621835	1577538	11	1713											
HCLS1	3059	broad.mit.edu	37	chr3	121366225	121366225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atagccatgggatgctttggGccctgactccatctctttct	6	14	9	12	0	2	1	0	1	2	0	4	2	3	2	3	2	2	1	3	2	1	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr3:121366225G>T	ENST00000314583.3	-	4	320	c.229C>A	c.(229-231)Ccc>Acc	p.P77T	HCLS1_ENST00000428394.2_Missense_Mutation_p.P77T	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	77					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)		GATGCTTTGGGCCCTGACTCC	0.458																																					p.P77T													.	HCLS1	78		0			c.C229A												209	200	203					3																	121366225		2203	4300	6503	SO:0001583	missense	3059	exon4			CTTTGGGCCCTGA		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.229C>A	3.37:g.121366225G>T	ENSP00000320176:p.Pro77Thr		259	0	0		253	0.02	5	NM_005335	112	0	0	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733648	0.89482	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.21543	2.01;2.0	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.89287	3.02	0.80722	D	1	P;D;D	0.89917	0.884;1.0;1.0	P;D;D	0.85130	0.465;0.997;0.982	T	0.56691	-0.7937	10	0.49607	T	0.09	-11.8173	17.243	0.87019	0.0:0.0:1.0:0.0	.	77;77;77	B4DTP2;E7EVW7;P14317	.;.;HCLS1_HUMAN	T	77	ENSP00000320176:P77T;ENSP00000387645:P77T	ENSP00000320176:P77T	P	-	1	0	HCLS1	122848915	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.592000	0.90828	2.937000	0.99478	0.650000	0.86243	CCC			0.458	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355144.1		NM_005335		T	121366225	G	T	121366225	3	4	26	1	0	0	0	0	1	0	0	0	7010	1203	42	2	1275	2	HCLS1	3	121366225	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		121366225	76656205	12	1714											
IGSF10	285313	mdanderson.org	37	chr3	151164540	151164540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttggaaaagacaatgctgCtgtggcagtggtgagcctct	10	10	13	8	0	1	2	0	1	1	1	1	3	1	3	1	3	3	3	1	3	3	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr3:151164540C>T	ENST00000282466.3	-	4	3228	c.3229G>A	c.(3229-3231)Gca>Aca	p.A1077T		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	1077					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)			GACAATGCTGCTGTGGCAGTG	0.498																																					p.A1077T													.	.			0			c.G3229A												121	123	122					3																	151164540		2203	4300	6503	SO:0001583	missense	285313	exon4			ATGCTGCTGTGGC	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.3229G>A	3.37:g.151164540C>T	ENSP00000282466:p.Ala1077Thr		50	0	0		51	0.06	3	NM_178822	1	0	0	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455850	0.12283	.	.	ENSG00000152580	ENST00000282466	T	0.68479	-0.33	5.46	-1.55	0.08558	.	0.918426	0.09007	N	0.862051	T	0.41166	0.1147	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.22591	-1.0212	10	0.13470	T	0.59	.	5.1664	0.15088	0.1943:0.4046:0.0:0.4011	.	1077	Q6WRI0	IGS10_HUMAN	T	1077	ENSP00000282466:A1077T	ENSP00000282466:A1077T	A	-	1	0	IGSF10	152647230	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.530000	0.06179	0.003000	0.14656	-0.229000	0.12294	GCA			0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357782.1		NM_178822		T	151164540	C	T	151164540	3	4	26	1	0	0	0	0	1	0	0	0	7612	797	28	2	4702	2	IGSF10	3	151164540	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	29798315	151164540	46857890	13	1715											
CHRD	8646	broad.mit.edu	37	chr3	184101396	184101396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagcgcactgtcctgtGccacatggctggactccagc	7	8	12	14	1	1	0	1	0	0	0	3	2	3	2	3	3	3	2	3	3	0	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr3:184101396G>T	ENST00000204604.1	+	12	1652	c.1406G>T	c.(1405-1407)tGc>tTc	p.C469F	CHRD_ENST00000545352.1_Missense_Mutation_p.C99F|CHRD_ENST00000348986.3_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.C469F	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	469	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTGTCCTGTGCCACATGGCT	0.627																																					p.C469F													.	CHRD	149		0			c.G1406T												79	62	68					3																	184101396		2203	4300	6503	SO:0001583	missense	8646	exon12			TCCTGTGCCACAT	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1406G>T	3.37:g.184101396G>T	ENSP00000204604:p.Cys469Phe		132	0.0075757576	1		119	0.05	6	NM_003741	9	0	0	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.543854	0.00934	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000545352;ENST00000342610	T;T;T	0.39229	1.09;1.09;1.09	4.18	4.18	0.49190	CHRD (3);	0.128095	0.56097	D	0.000029	T	0.17408	0.0418	N	0.04203	-0.255	0.35961	D	0.834637	B;B;B	0.19583	0.003;0.003;0.037	B;B;B	0.26094	0.014;0.066;0.047	T	0.19353	-1.0308	10	0.10111	T	0.7	-11.0927	5.6407	0.17562	0.1027:0.0:0.7009:0.1964	.	99;469;469	B7Z6F4;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	F	469;469;99;182	ENSP00000204604:C469F;ENSP00000408972:C469F;ENSP00000442948:C99F	ENSP00000204604:C469F	C	+	2	0	CHRD	185584090	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	3.358000	0.52284	2.039000	0.60335	0.313000	0.20887	TGC			0.627	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000280432.1		NM_003741		T	184101396	G	T	184101396	3	4	26	1	0	0	0	0	1	0	0	0	3374	1319	46	2	1452	2	CHRD	3	184101396	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	32936856	184101396	13921034	14	1716											
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	125599937	125599937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctaaaagtgctgcaacagtCccagataagctggtagacgt	13	8	11	9	1	0	2	0	0	0	2	1	2	1	2	1	1	4	5	1	1	5	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr4:125599937C>T	ENST00000504087.1	-	3	1673	c.636G>A	c.(634-636)ggG>ggA	p.G212G	ANKRD50_ENST00000515641.1_Silent_p.G33G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	212										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGCAACAGTCCCAGATAAGC	0.453																																					p.G212G													.	.			0			c.G636A												201	196	198					4																	125599937		2203	4300	6503	SO:0001819	synonymous_variant	57182	exon3			AACAGTCCCAGAT	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.636G>A	4.37:g.125599937C>T			151	0	0		148	0.24	36	NM_020337	11	0.36	4	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																					0.453	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364775.1		NM_020337		T	125599937	C	T	125599937	2	4	26	1	0	0	0	0	0	0	0	1	677	842	30	3		3	ANKRD50	4	125599937	Silent	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10		125599937	65554339	15	1717											
ACSL1	2180	broad.mit.edu	37	chr4	185701510	185701510	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctattttgagcaaagatGccaatgaactgatctggggc	11	11	12	7	0	2	4	0	3	2	1	2	4	2	4	1	3	3	1	1	3	4	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr4:185701510G>T	ENST00000515030.1	-	5	778	c.453C>A	c.(451-453)ggC>ggA	p.G151G	ACSL1_ENST00000504900.1_Silent_p.G151G|ACSL1_ENST00000281455.2_Silent_p.G151G|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000454703.2_5'UTR|ACSL1_ENST00000504342.1_Silent_p.G151G|ACSL1_ENST00000513317.1_Silent_p.G151G|ACSL1_ENST00000507295.1_Intron			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	151					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGCAAAGATGCCAATGAACT	0.438																																					p.G151G													.	ACSL1	77		0			c.C453A												142	147	145					4																	185701510		2203	4300	6503	SO:0001819	synonymous_variant	2180	exon5			AAAGATGCCAATG	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.453C>A	4.37:g.185701510G>T			95	0	0		100	0.05	5	NM_001995	20	0	0	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	CCDS3839.1																																																																																					0.438	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361112.2		NM_001995		T	185701510	G	T	185701510	2	4	26	1	0	0	0	0	0	0	0	1	177	1306	46	2		2	ACSL1	4	185701510	Silent	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	60101573	185701510	5452766	16	1718											
TRIO	7204	mdanderson.org	37	chr5	14488050	14488050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccgccaaggacgcgcGcgctagcctgggcaccctgc	5	3	13	20	6	0	0	0	0	0	0	0	1	0	1	5	2	2	2	5	2	2	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr5:14488050G>T	ENST00000344204.4	+	48	7337	c.7313G>T	c.(7312-7314)cGc>cTc	p.R2438L	TRIO_ENST00000344135.5_5'Flank|TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2438					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)					AAGGACGCGCGCGCTAGCCTG	0.726																																					p.R2438L													.	.			0			c.G7313T												2	3	3					5																	14488050		1589	3362	4951	SO:0001583	missense	7204	exon48			ACGCGCGCGCTAG	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.7313G>T	5.37:g.14488050G>T	ENSP00000339299:p.Arg2438Leu		34	0	0		27	0.07	2	NM_007118	12	0	0	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478357	0.44044	.	.	ENSG00000038382	ENST00000344204;ENST00000513206	T;T	0.64991	-0.13;0.12	4.75	4.75	0.60458	.	0.359711	0.28821	N	0.014021	T	0.51261	0.1664	L	0.32530	0.975	0.49582	D	0.999803	B;P	0.40602	0.248;0.723	B;B	0.38156	0.074;0.266	T	0.50101	-0.8867	10	0.25106	T	0.35	.	15.9225	0.79586	0.0:0.0:1.0:0.0	.	2438;2438	O75962-5;O75962	.;TRIO_HUMAN	L	2438;2125	ENSP00000339299:R2438L;ENSP00000426342:R2125L	ENSP00000339299:R2438L	R	+	2	0	TRIO	14541050	0.989000	0.36119	0.082000	0.20525	0.024000	0.10985	5.026000	0.64103	2.168000	0.68352	0.455000	0.32223	CGC			0.726	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253711.2		NM_007118		T	14488050	G	T	14488050	3	4	26	1	0	0	0	0	1	0	0	0	16576	1087	38	1	7503	1	TRIO	5	14488050	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		14488050	166427210	17	1719											
IPO11	51194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	61772516	61772516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttttaacaggtagaaGtataggtacagataatgtgt	14	15	10	2	0	0	2	0	0	0	2	0	2	0	2	0	2	2	4	0	2	8	9			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr5:61772516G>A	ENST00000325324.6	+	9	933	c.764G>A	c.(763-765)aGt>aAt	p.S255N	IPO11_ENST00000409296.3_Missense_Mutation_p.S295N|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	255					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)		ACAGGTAGAAGTATAGGTACA	0.249																																					p.S295N													.	.			0			c.G884A												62	69	67					5																	61772516		2187	4270	6457	SO:0001583	missense	51194	exon9			GTAGAAGTATAGG	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.764G>A	5.37:g.61772516G>A	ENSP00000316651:p.Ser255Asn		712	0	0		552	0.33	180	NM_001134779	26	0.31	8	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	G	6.649	0.488227	0.12641	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.66995	-0.24;-0.24	5.55	-3.05	0.05396	Armadillo-like helical (1);Armadillo-type fold (1);	0.570333	0.21099	N	0.080186	T	0.37019	0.0988	N	0.03154	-0.405	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09271	-1.0682	10	0.16896	T	0.51	.	13.8652	0.63583	0.565:0.0:0.435:0.0	.	295;255	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	N	255;295	ENSP00000316651:S255N;ENSP00000386992:S295N	ENSP00000316651:S255N	S	+	2	0	IPO11	61808273	0.920000	0.31207	0.882000	0.34594	0.991000	0.79684	-0.018000	0.12568	-1.099000	0.03034	-0.459000	0.05422	AGT			0.249	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335062.1		NM_016338		A	61772516	G	A	61772516	3	1	26	1	0	0	0	0	1	0	0	0	7808	1029	36	3	918	3	IPO11	5	61772516	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	47284466	61772516	119142744	18	1720											
PCDH12	51294	broad.mit.edu	37	chr5	141335641	141335641	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagccattgggagtctcGatgggcaccagcaggtggcc	8	6	14	13	1	1	0	0	0	1	0	2	2	1	1	4	4	2	2	4	4	1	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr5:141335641G>T	ENST00000231484.3	-	1	2986	c.1776C>A	c.(1774-1776)atC>atA	p.I592I	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	592					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)			TGGGAGTCTCGATGGGCACCA	0.592																																					p.I592I													.	PCDH12	133		0			c.C1776A												51	47	48					5																	141335641		2203	4300	6503	SO:0001819	synonymous_variant	51294	exon1			AGTCTCGATGGGC	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.1776C>A	5.37:g.141335641G>T			64	0	0		66	0.05	3	NM_016580	13	0	0	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	CCDS4269.1																																																																																					0.592	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251858.1		NM_016580		T	141335641	G	T	141335641	2	4	26	1	0	0	0	0	0	0	0	1	11527	1048	37	1		1	PCDH12	5	141335641	Silent	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	79563125	141335641	39579619	19	1721											
DEK	7913	mdanderson.org	37	chr6	18258233	18258233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagatttctaagttcatcgGttttcttcttacttagaaaa	11	18	6	6	1	4	2	1	0	3	2	5	2	4	2	0	1	1	3	0	1	6	9	rs200796384		TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr6:18258233G>T	ENST00000397239.3	-	4	755	c.308C>A	c.(307-309)aCc>aAc	p.T103N	DEK_ENST00000244776.7_Missense_Mutation_p.T69N	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	103					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			AAGTTCATCGGTTTTCTTCTT	0.338			T	NUP214	AML																																p.T103N				Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	DEK,caecum,carcinoma,+1,1	DEK	1	1	0			c.C308A												110	107	108					6																	18258233		2203	4299	6502	SO:0001583	missense	7913	exon4			TCATCGGTTTTCT	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.308C>A	6.37:g.18258233G>T	ENSP00000380414:p.Thr103Asn		95	0.0105263158	1		83	0.05	4	NM_003472	296	0.01	2	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915671	0.33815	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000503715;ENST00000515742	T;T;T;T	0.45276	0.94;0.9;0.92;0.93	6.08	5.21	0.72293	.	0.358828	0.35555	N	0.003131	T	0.14013	0.0339	L	0.29908	0.895	0.25546	N	0.987138	B;B	0.22211	0.066;0.066	B;B	0.29267	0.1;0.1	T	0.15521	-1.0434	10	0.17369	T	0.5	-13.4012	10.6678	0.45741	0.0685:0.1322:0.7993:0.0	.	69;103	B4DN37;P35659	.;DEK_HUMAN	N	103;69;36;108	ENSP00000380414:T103N;ENSP00000244776:T69N;ENSP00000425399:T36N;ENSP00000423553:T108N	ENSP00000244776:T69N	T	-	2	0	DEK	18366212	1.000000	0.71417	0.896000	0.35187	0.890000	0.51754	3.850000	0.55918	1.579000	0.49836	0.591000	0.81541	ACC			0.338	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039962.4				T	18258233	G	T	18258233	3	4	26	1	0	0	0	0	1	0	0	0	4429	1261	44	3	851	3	DEK	6	18258233	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		18258233	152856834	20	1722											
NFKBIL1	4795	broad.mit.edu;mdanderson.org	37	chr6	31526067	31526067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggggaccgagaacccaaGccaaccagggccgggcccag	11	1	14	15	2	0	1	0	0	0	1	0	3	0	2	6	4	3	0	6	4	4	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr6:31526067G>T	ENST00000376148.4	+	4	939	c.825G>T	c.(823-825)aaG>aaT	p.K275N	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.K260N	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	275					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GAGAACCCAAGCCAACCAGGG	0.706																																					p.K275N													.	NFKBIL1	17		0			c.G825T												11	10	10					6																	31526067		1491	2700	4191	SO:0001583	missense	4795	exon4			ACCCAAGCCAACC	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.825G>T	6.37:g.31526067G>T	ENSP00000365318:p.Lys275Asn		63	0	0		59	0.07	4	NM_005007	133	0	0	A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP	ENST00000376148.4	37	CCDS4700.1	.	.	.	.	.	.	.	.	.	.	G	1.689	-0.504468	0.04261	.	.	ENSG00000204498	ENST00000376146;ENST00000376148;ENST00000376145	T;T;T	0.30182	1.54;1.54;1.54	5.06	3.21	0.36854	.	0.324996	0.29572	N	0.011766	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.11329	0.006;0.004;0.004	T	0.28202	-1.0051	10	0.30078	T	0.28	-6.2197	6.3959	0.21613	0.1001:0.1989:0.701:0.0	.	252;260;275	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	N	252;275;260	ENSP00000365316:K252N;ENSP00000365318:K275N;ENSP00000365315:K260N	ENSP00000365315:K260N	K	+	3	2	NFKBIL1	31634046	0.001000	0.12720	0.277000	0.24703	0.266000	0.26442	0.594000	0.24014	1.364000	0.46038	-0.244000	0.11960	AAG			0.706	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076036.3		NM_005007		T	31526067	G	T	31526067	3	4	26	1	0	0	0	0	1	0	0	0	10398	962	34	2	839	2	NFKBIL1	6	31526067	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	13267834	31526067	139589000	21	1723											
RIMS1	22999	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	72892035	72892035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcaaaggagccctgaaGagcgagcggaaacgcgtgcc	13	3	15	10	4	0	2	0	1	0	1	0	5	0	4	2	3	5	1	2	3	4	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr6:72892035G>T	ENST00000521978.1	+	6	861	c.861G>T	c.(859-861)aaG>aaT	p.K287N	RIMS1_ENST00000522291.1_Missense_Mutation_p.K287N|RIMS1_ENST00000520567.1_Missense_Mutation_p.K287N|RIMS1_ENST00000491071.2_Missense_Mutation_p.K287N|RIMS1_ENST00000264839.7_Missense_Mutation_p.K287N|RIMS1_ENST00000348717.5_Missense_Mutation_p.K287N|RIMS1_ENST00000517960.1_Missense_Mutation_p.K287N|RIMS1_ENST00000518273.1_Missense_Mutation_p.K287N	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	287					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)				GAGCCCTGAAGAGCGAGCGGA	0.537																																					p.K287N													.	RIMS1	278		0			c.G861T												34	40	38					6																	72892035		1866	4108	5974	SO:0001583	missense	0	exon6			CCTGAAGAGCGAG	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.861G>T	6.37:g.72892035G>T	ENSP00000428417:p.Lys287Asn		370	0.0027027027	1		302	0.1	31	NM_014989	0		0	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	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909395	0.52439	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.14640	2.49;2.65;2.56;2.65;2.65;2.63;2.63;2.56	5.28	4.29	0.51040	.	0.000000	0.64402	D	0.000006	T	0.11281	0.0275	L	0.46157	1.445	0.80722	D	1	D	0.61697	0.99	P	0.53102	0.718	T	0.00992	-1.1488	10	0.66056	D	0.02	-12.9912	7.0747	0.25197	0.2686:0.0:0.7314:0.0	.	287	Q86UR5	RIMS1_HUMAN	N	287	ENSP00000430101:K287N;ENSP00000275037:K287N;ENSP00000264839:K287N;ENSP00000429959:K287N;ENSP00000430408:K287N;ENSP00000430502:K287N;ENSP00000430932:K287N;ENSP00000428417:K287N	ENSP00000264839:K287N	K	+	3	2	RIMS1	72948756	1.000000	0.71417	0.771000	0.31576	0.385000	0.30292	1.677000	0.37576	2.478000	0.83669	0.462000	0.41574	AAG			0.537	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374968.1				T	72892035	G	T	72892035	3	4	26	1	0	0	0	0	1	0	0	0	13390	933	33	3	883	3	RIMS1	6	72892035	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	41365968	72892035	98223032	22	1724											
AKD1	221264	broad.mit.edu	37	chr6	109867322	109867322	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacaaggcatattcttaaTggaggagcctgtcacagggg	11	8	13	9	1	2	0	1	0	1	0	2	3	2	2	2	5	1	1	2	5	3	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr6:109867322T>G	ENST00000424296.2	-	26	3049	c.2973A>C	c.(2971-2973)ccA>ccC	p.P991P	AK9_ENST00000355283.1_Silent_p.P70P|AK9_ENST00000341338.6_Silent_p.P70P	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	991					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ATATTCTTAATGGAGGAGCCT	0.438																																					p.P991P													.	AKD1	223		0			c.A2973C												55	67	63					6																	109867322		2167	4289	6456	SO:0001819	synonymous_variant	221264	exon26			TCTTAATGGAGGA	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2973A>C	6.37:g.109867322T>G			107	0.046728972	5		83	0.08	7	NM_001145128	0		0	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	CCDS55048.1																																																																																					0.438	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001145128		G	109867322	T	G	109867322	2	3	26	1	0	0	0	0	0	0	0	1	460	1451	51	4		4	AKD1	6	109867322	Silent	SNP	T	TCGA-2G-AAGC-01A-21D-A42Y-10	36975287	109867322	61247745	23	1725											
FNDC1	84624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	159653823	159653823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactccaatgcgccatcacGgtccaccatgtcctcctccg	8	8	6	19	3	1	0	1	0	0	0	6	0	6	0	7	1	2	0	7	1	2	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr6:159653823G>A	ENST00000297267.9	+	11	2479	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R697Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	760	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCCATCACGGTCCACCATG	0.622																																					p.R760Q													FNDC1,colon,carcinoma,0,3	FNDC1	0	3	0			c.G2279A												42	45	44					6																	159653823		2152	4247	6399	SO:0001583	missense	84624	exon11			CATCACGGTCCAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2279G>A	6.37:g.159653823G>A	ENSP00000297267:p.Arg760Gln		75	0	0		56	0.13	7	NM_032532	15	0.07	1	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	4.858	0.159432	0.09236	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.06294	3.32;4.13	4.91	-7.5	0.01351	.	2.365130	0.01397	N	0.013445	T	0.00875	0.0029	N	0.05124	-0.11	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.06405	0.002;0.001	T	0.35450	-0.9788	10	0.09338	T	0.73	0.401	16.0734	0.80951	0.8556:0.0:0.1444:0.0	.	697;760	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	Q	760;697	ENSP00000297267:R760Q;ENSP00000342460:R697Q	ENSP00000297267:R760Q	R	+	2	0	FNDC1	159573813	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.943000	0.03917	-1.618000	0.01568	-0.140000	0.14226	CGG			0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042897.3		NM_032532		A	159653823	G	A	159653823	3	1	26	1	0	0	0	0	1	0	0	0	5981	1116	39	1	2321	1	FNDC1	6	159653823	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	49786501	159653823	11461244	24	1726											
DLL1	28514	mdanderson.org	37	chr6	170593060	170593060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcgtcacagtgcctccccGagaagccggcctggcagcgg	6	6	14	15	4	1	1	1	0	0	1	3	2	2	1	5	3	3	1	5	3	1	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr6:170593060G>A	ENST00000366756.3	-	9	1640	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	436	EGF-like 6. {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)		GTGCCTCCCCGAGAAGCCGGC	0.642																																					p.S436L													.	.			0			c.C1307T																																									SO:0001583	missense	28514	exon9			CTCCCCGAGAAGC	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.1307C>T	6.37:g.170593060G>A	ENSP00000355718:p.Ser436Leu		24	0.0416666667	1		15	0.13	2	NM_005618	9	0	0	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437076	0.43224	.	.	ENSG00000198719	ENST00000366756	T	0.54866	0.55	5.5	5.5	0.81552	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.281064	0.37393	N	0.002117	T	0.51483	0.1677	L	0.61218	1.895	0.45239	D	0.99824	P	0.52463	0.953	P	0.47251	0.542	T	0.57734	-0.7760	10	0.62326	D	0.03	.	19.3883	0.94566	0.0:0.0:1.0:0.0	.	436	O00548	DLL1_HUMAN	L	436	ENSP00000355718:S436L	ENSP00000355718:S436L	S	-	2	0	DLL1	170434985	1.000000	0.71417	0.909000	0.35828	0.268000	0.26511	6.570000	0.73996	2.593000	0.87608	0.655000	0.94253	TCG			0.642	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043254.1				A	170593060	G	A	170593060	3	1	26	1	0	0	0	0	1	0	0	0	4571	1059	37	1	876	1	DLL1	6	170593060	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	10939237	170593060	522007	25	1727											
GPR146	115330	mdanderson.org	37	chr7	1097335	1097335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaaggccagcatgaccatgCcggacgtgtactttgtcaac	10	8	11	12	2	1	1	1	1	0	0	1	2	1	2	3	2	4	3	3	2	3	2			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr7:1097335C>T	ENST00000397095.1	+	2	407	c.184C>T	c.(184-186)Ccg>Tcg	p.P62S	GPR146_ENST00000297468.3_Missense_Mutation_p.P62S|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000488073.1_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CATGACCATGCCGGACGTGTA	0.677																																					p.P62S													.	.			0			c.C184T												50	39	43					7																	1097335		2201	4300	6501	SO:0001583	missense	115330	exon1			ACCATGCCGGACG	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.184C>T	7.37:g.1097335C>T	ENSP00000380283:p.Pro62Ser		35	0	0		43	0.07	3	NM_138445	3	0	0	Q86SP5	Missense_Mutation	SNP	ENST00000397095.1	37	CCDS5321.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612511	0.66672	.	.	ENSG00000164849	ENST00000444847;ENST00000397095;ENST00000297468	T;T;T	0.35789	1.29;1.29;1.29	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.38824	-0.9643	10	0.31617	T	0.26	-33.611	17.4705	0.87645	0.0:1.0:0.0:0.0	.	62	Q96CH1	GP146_HUMAN	S	62	ENSP00000410743:P62S;ENSP00000380283:P62S;ENSP00000297468:P62S	ENSP00000297468:P62S	P	+	1	0	GPR146	1063861	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	7.217000	0.77982	2.387000	0.81309	0.561000	0.74099	CCG			0.677	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206855.1		NM_138445		T	1097335	C	T	1097335	3	4	26	1	0	0	0	0	1	0	0	0	6666	739	26	2	186	2	GPR146	7	1097335	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10		1097335	158041328	26	1728											
HOXA13	3209	mdanderson.org	37	chr7	27238794	27238794	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcagagtggacttccaGaggtggggaggctgcgcctg	6	6	19	10	2	0	2	0	0	0	2	1	4	1	4	3	6	1	2	3	6	0	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr7:27238794G>T	ENST00000222753.4	-	1	931	c.903C>A	c.(901-903)ctC>ctA	p.L301L	HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000521028.2_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	301					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						TGGACTTCCAGAGGTGGGGAG	0.637			T	NUP98	AML																																p.L301L				Dom	yes		7	7p15-p14.2	3209	homeo box A13		L	.	.			0			c.C903A												59	59	59					7																	27238794		2203	4300	6503	SO:0001819	synonymous_variant	3209	exon1			CTTCCAGAGGTGG		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.903C>A	7.37:g.27238794G>T			28	0	0		37	0.08	3	NM_000522	21	0	0	A4D188|O43371	Silent	SNP	ENST00000222753.4	37	CCDS5412.1																																																																																					0.637	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358752.3				T	27238794	G	T	27238794	2	4	26	1	0	0	0	0	0	0	0	1	7306	929	33	3		3	HOXA13	7	27238794	Silent	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	26141459	27238794	131899869	27	1729											
ZAN	7455	broad.mit.edu	37	chr7	100349991	100349991	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaaaaacccaccatcTccccagaaaaacccaccacc	17	2	2	20	0	1	2	0	0	1	2	2	2	1	2	8	0	2	0	8	0	4	0	rs560599163	byFrequency	TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr7:100349991T>C	ENST00000348028.3	+	0	2428				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_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)		p.S755P(5)		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)			ACCCACCATCTCCCCAGAAAA	0.517													t|||	35	0.00698882	0.0038	0.0101	5008	,	,		14901	0.005		0.0129	False		,,,				2504	0.0051				.													ZAN_ENST00000542585,NS,carcinoma,0,5	ZAN	658	5	5	Substitution - Missense(5)	endometrium(4)|NS(1)	.												122	136	131					7																	100349991		1816	4060	5876			7455	.			ACCATCTCCCCAG	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.100349991T>C			100	0.03	3		124	0.1	12	.	1	0	0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	t	5.435	0.265377	0.10294	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63255	-0.03;0.11;-0.03	4.24	0.21	0.15231	.	.	.	.	.	T	0.29716	0.0742	N	0.01140	-0.99	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.33940	T	0.23	.	7.9077	0.29771	0.0:0.5221:0.0:0.4779	.	755;755	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	755	ENSP00000445943:S755P;ENSP00000445091:S755P;ENSP00000444427:S755P	ENSP00000423579:S755P	S	+	1	0	ZAN	100187927	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.770000	0.00371	-0.086000	0.12550	-0.766000	0.03442	TCC			0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000347214.1		NM_003386		C	100349991	T	C	100349991	1	2	26	0	1	0	0	0	0	0	0	0	17537	1551	54	4		4	ZAN	7	100349991	RNA	SNP	T	TCGA-2G-AAGC-01A-21D-A42Y-10	73111197	100349991	58788672	28	1730											
ADAM32	203102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	39079164	39079164	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgttgtgattttcgaacTtgtgtactgaaagacggagc	10	13	12	6	2	0	3	0	2	0	1	1	5	0	4	0	1	4	3	0	1	3	5			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr8:39079164T>G	ENST00000379907.4	+	13	1396	c.1269T>G	c.(1267-1269)acT>acG	p.T423T	ADAM32_ENST00000437682.2_Silent_p.T324T|ADAM32_ENST00000519315.1_Silent_p.T317T	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	423	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATTTTCGAACTTGTGTACTGA	0.323																																					p.T423T													.	.			0			c.T1269G												136	126	129					8																	39079164		1882	4109	5991	SO:0001819	synonymous_variant	203102	exon13			TCGAACTTGTGTA	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1269T>G	8.37:g.39079164T>G			67	0	0		125	0.28	35	NM_145004	0		0	Q8TC42	Silent	SNP	ENST00000379907.4	37	CCDS47846.1																																																																																					0.323	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377089.1		NM_145004		G	39079164	T	G	39079164	2	3	26	1	0	0	0	0	0	0	0	1	249	1596	56	4		4	ADAM32	8	39079164	Silent	SNP	T	TCGA-2G-AAGC-01A-21D-A42Y-10		39079164	107284858	29	1731											
FRMPD1	22844	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	37746248	37746248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccagagtactgctccaggGcactgagacagctgaaagcc	11	5	13	12	0	0	3	0	2	0	2	1	4	1	3	3	2	4	4	3	2	2	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr9:37746248G>A	ENST00000539465.1	+	16	4812	c.4219G>A	c.(4219-4221)Gca>Aca	p.A1407T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1407T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1407						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)		CTGCTCCAGGGCACTGAGACA	0.597																																					p.A1407T													.	FRMPD1	237		0			c.G4219A												19	22	21					9																	37746248		2194	4290	6484	SO:0001583	missense	22844	exon16			TCCAGGGCACTGA	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.4219G>A	9.37:g.37746248G>A	ENSP00000444411:p.Ala1407Thr		32	0	0		44	0.11	5	NM_014907	0		0	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561816	0.27915	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.08102	3.13;3.13	5.67	4.58	0.56647	.	0.227351	0.38111	N	0.001815	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	0.999992	B	0.27229	0.172	B	0.21917	0.037	T	0.33420	-0.9869	10	0.32370	T	0.25	-8.4971	8.6573	0.34071	0.1763:0.0:0.8237:0.0	.	1407	Q5SYB0	FRPD1_HUMAN	T	1407	ENSP00000366995:A1407T;ENSP00000444411:A1407T	ENSP00000366995:A1407T	A	+	1	0	FRMPD1	37736248	0.988000	0.35896	0.966000	0.40874	0.277000	0.26821	0.680000	0.25306	2.672000	0.90937	0.655000	0.94253	GCA			0.597	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402969.1		NM_014907		A	37746248	G	A	37746248	3	1	26	1	0	0	0	0	1	0	0	0	6070	1203	42	2	4277	2	FRMPD1	9	37746248	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		37746248	103467183	30	1732											
SECISBP2	79048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	91940430	91940430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agataactcttcatccatatGcctattctccttataccctt	10	16	2	13	0	3	1	1	0	2	1	5	1	4	1	4	0	3	0	4	0	5	8	rs529644965		TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr9:91940430G>A	ENST00000375807.3	+	3	342	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A23T|SECISBP2_ENST00000339901.4_Intron	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	91					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.A91S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TCATCCATATGCCTATTCTCC	0.398																																					p.A91T													SECISBP2,NS,carcinoma,0,1	SECISBP2	0	1	1	Substitution - Missense(1)	lung(1)	c.G271A												197	185	189					9																	91940430		2203	4300	6503	SO:0001583	missense	79048	exon3			CCATATGCCTATT	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.271G>A	9.37:g.91940430G>A	ENSP00000364965:p.Ala91Thr		178	0	0		163	0.33	54	NM_024077	23	0.39	9	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	3.750	-0.051829	0.07362	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000534113	T;T	0.72835	-0.69;-0.69	4.17	-2.93	0.05598	.	0.980712	0.08346	N	0.960039	T	0.45236	0.1332	N	0.24115	0.695	0.09310	N	1	B;B;B	0.17852	0.024;0.024;0.024	B;B;B	0.12156	0.007;0.007;0.007	T	0.35425	-0.9789	10	0.05833	T	0.94	-0.7391	4.1844	0.10392	0.3258:0.0:0.1931:0.4811	.	111;91;91	Q59H19;B4DZC7;Q96T21	.;.;SEBP2_HUMAN	T	91;111;23	ENSP00000364965:A91T;ENSP00000436650:A23T	ENSP00000364965:A91T	A	+	1	0	SECISBP2	91130250	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.004000	0.12878	-0.295000	0.08960	0.462000	0.41574	GCC			0.398	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052990.3		NM_024077		A	91940430	G	A	91940430	3	1	26	1	0	0	0	0	1	0	0	0	14029	1319	46	2	281	2	SECISBP2	9	91940430	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	54194182	91940430	49273001	31	1733											
PHF2	5253	mdanderson.org	37	chr9	96422835	96422835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagatggagccgcccaagaAgggcaaggtgggaccccctc	11	3	14	13	1	0	2	0	0	0	2	1	4	0	4	4	4	1	1	4	4	4	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr9:96422835A>G	ENST00000359246.4	+	12	2058	c.1691A>G	c.(1690-1692)aAg>aGg	p.K564R	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	564	Lys-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCGCCCAAGAAGGGCAAGGTG	0.617																																					p.K564R													.	.			0			c.A1691G												48	44	45					9																	96422835		2202	4296	6498	SO:0001583	missense	5253	exon12			CCAAGAAGGGCAA	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1691A>G	9.37:g.96422835A>G	ENSP00000352185:p.Lys564Arg		37	0	0		20	0.1	2	NM_005392	19	0	0	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362451	0.61403	.	.	ENSG00000197724	ENST00000359246	T	0.22134	1.97	3.83	3.83	0.44106	.	0.233550	0.42053	D	0.000777	T	0.29556	0.0737	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.03875	-1.0996	10	0.40728	T	0.16	-10.9719	12.7694	0.57412	1.0:0.0:0.0:0.0	.	564	O75151	PHF2_HUMAN	R	564	ENSP00000352185:K564R	ENSP00000352185:K564R	K	+	2	0	PHF2	95462656	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	8.761000	0.91691	1.611000	0.50210	0.254000	0.18369	AAG			0.617	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053162.1		NM_005392		G	96422835	A	G	96422835	3	3	26	1	0	0	0	0	1	0	0	0	11847	72	3	4	1737	4	PHF2	9	96422835	Missense_Mutation	SNP	A	TCGA-2G-AAGC-01A-21D-A42Y-10	4482405	96422835	44790596	32	1734											
GALNT12	79695	mdanderson.org	37	chr9	101589071	101589071	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaatgagctttcgggActgcccaaggtgcgcctgat	7	10	13	11	2	0	2	0	2	0	0	1	3	0	3	3	3	3	1	3	3	2	2	rs146370762	byFrequency	TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr9:101589071A>G	ENST00000375011.3	+	3	579	c.579A>G	c.(577-579)ggA>ggG	p.G193G		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	193	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)				AGCTTTCGGGACTGCCCAAGG	0.637													A|||	27	0.00539137	0.0197	0	5008	,	,		17427	0		0.001	False		,,,				2504	0				p.G193G													.	.			0			c.A579G							A		76,4330	59.3+/-96.0	1,74,2128	41	39	40		579	-3.3	0	9	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	GALNT12	NM_024642.4		1,74,6428	GG,GA,AA		0.0,1.7249,0.5843		193/582	101589071	76,12930	2203	4300	6503	SO:0001819	synonymous_variant	79695	exon3			TTCGGGACTGCCC	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.579A>G	9.37:g.101589071A>G			69	0	0		42	0.07	3	NM_024642	7	0	0	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	CCDS6737.1																																																																																			0.005		0.637	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053382.1		NM_024642		G	101589071	A	G	101589071	2	3	26	1	0	0	0	0	0	0	0	1	6224	262	10	4		4	GALNT12	9	101589071	Silent	SNP	A	TCGA-2G-AAGC-01A-21D-A42Y-10	5166236	101589071	39624360	33	1735											
WDR5	11091	mdanderson.org	37	chr9	137007545	137007545	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttattgtctcaggatccGtaagtgtggctggggtgtct	6	14	13	8	1	2	0	1	0	2	0	4	1	3	1	2	4	0	2	2	4	2	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr9:137007545G>A	ENST00000358625.3	+	6	615		c.e6+1		WDR5_ENST00000425041.1_Splice_Site	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CTCAGGATCCGTAAGTGTGGC	0.517																																					.													.	.			0			c.444+1G>A												95	94	94					9																	137007545		2203	4300	6503	SO:0001630	splice_region_variant	11091	exon6			GGATCCGTAAGTG	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.444+1G>A	9.37:g.137007545G>A			63	0	0		53	0.06	3	NM_017588	0		0	Q91VA5|Q9NWX7|Q9UGP9	Splice_Site	SNP	ENST00000358625.3	37	CCDS6981.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478654	0.26511	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0467	0.71833	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR5	135997366	1.000000	0.71417	0.733000	0.30861	0.067000	0.16453	8.804000	0.91921	1.948000	0.56530	0.455000	0.32223	.			0.517	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254621.1		NM_052821	Intron	A	137007545	G	A	137007545	5	1	26	1	0	0	0	0	0	0	1	0	17327	1159	40	1	463	1	WDR5	9	137007545	Splice_Site	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	35418474	137007545	4205886	34	1736											
INPP5E	56623	mdanderson.org	37	chr9	139327038	139327038	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaccttcccgtcacctGctgtgggaacagaaatgggg	8	7	12	14	2	1	1	1	0	0	1	2	2	2	2	5	3	2	1	5	3	2	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr9:139327038G>T	ENST00000371712.3	-	6	1682	c.1280C>A	c.(1279-1281)tCa>tAa	p.S427*		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CCCGTCACCTGCTGTGGGAAC	0.637																																					p.S427X													.	.			0			c.C1280A												51	36	41					9																	139327038		2089	4003	6092	SO:0001630	splice_region_variant	56623	exon6			TCACCTGCTGTGG	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1280-1C>A	9.37:g.139327038G>T			44	0	0		28	0.11	3	NM_019892	25	0	0	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Nonsense_Mutation	SNP	ENST00000371712.3	37	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	38	6.652384	0.97734	.	.	ENSG00000148384	ENST00000371712	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	18.2483	0.89995	0.0:0.0:1.0:0.0	.	.	.	.	X	427	.	ENSP00000360777:S427X	S	-	2	0	INPP5E	138446859	1.000000	0.71417	0.933000	0.37362	0.017000	0.09413	6.848000	0.75409	2.630000	0.89119	0.455000	0.32223	TCA			0.637	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055058.1		NM_019892	Nonsense_Mutation	T	139327038	G	T	139327038	5	4	26	1	0	0	0	0	0	0	1	0	7772	1333	46	2	674	2	INPP5E	9	139327038	Splice_Site	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	2319493	139327038	1886393	35	1737											
C10orf18	54906	mdanderson.org	37	chr10	5789791	5789791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaagataactttacccaGgtacaacaaatgcaggtctc	14	8	9	10	0	1	1	0	0	1	1	2	1	1	1	1	3	5	3	1	3	6	4			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr10:5789791G>T	ENST00000328090.5	+	15	5032	c.4407G>T	c.(4405-4407)caG>caT	p.Q1469H		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1469																	ACTTTACCCAGGTACAACAAA	0.423																																					p.Q1469H													.	.			0			c.G4407T												59	57	58					10																	5789791		1879	4112	5991	SO:0001583	missense	54906	exon15			TACCCAGGTACAA	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.4407G>T	10.37:g.5789791G>T	ENSP00000328426:p.Gln1469His		167	0	0		141	0.04	5	NM_017782	49	0	0	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896618	0.33535	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.05025	3.51	5.57	-0.128	0.13506	.	0.451574	0.20813	N	0.085208	T	0.05823	0.0152	L	0.53249	1.67	0.09310	N	1	B	0.19073	0.033	B	0.17979	0.02	T	0.31308	-0.9948	10	0.66056	D	0.02	.	2.7296	0.05223	0.3334:0.0:0.3272:0.3393	.	1469	Q5VWN6	F208B_HUMAN	H	1469;664	ENSP00000328426:Q1469H	ENSP00000328426:Q1469H	Q	+	3	2	C10orf18	5829797	0.000000	0.05858	0.001000	0.08648	0.266000	0.26442	0.095000	0.15127	-0.067000	0.12976	0.655000	0.94253	CAG			0.423	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046571.2		NM_017782		T	5789791	G	T	5789791	3	4	26	1	0	0	0	0	1	0	0	0	1598	991	35	3	4453	3	C10orf18	10	5789791	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		5789791	129744956	36	1738											
DNA2	1763	broad.mit.edu	37	chr10	70182359	70182359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctttcactcatgccaagaGctctgtcaataaatcagatt	13	12	6	10	0	5	2	4	0	1	2	5	2	5	2	1	0	3	2	1	0	4	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr10:70182359G>T	ENST00000358410.3	-	16	2455	c.2405C>A	c.(2404-2406)gCt>gAt	p.A802D	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Missense_Mutation_p.A888D	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	802	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CATGCCAAGAGCTCTGTCAAT	0.368																																					p.A802D													.	DNA2	76		0			c.C2405A												197	183	188					10																	70182359		1862	4102	5964	SO:0001583	missense	1763	exon16			CCAAGAGCTCTGT	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2405C>A	10.37:g.70182359G>T	ENSP00000351185:p.Ala802Asp		111	0	0		115	0.03	4	NM_001080449	39	0	0	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.414|9.414	1.081168|1.081168	0.20309|0.20309	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	D;D|.	0.81821|.	-1.54;-1.54|.	5.56|5.56	1.23|1.23	0.21249|0.21249	.|.	0.394485|.	0.28647|.	N|.	0.014610|.	T|T	0.35913|0.35913	0.0948|0.0948	N|N	0.13352|0.13352	0.335|0.335	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.05954|0.05954	-1.0854|-1.0854	10|5	0.15952|.	T|.	0.53|.	.|.	9.3228|9.3228	0.37975|0.37975	0.0:0.1166:0.2648:0.6186|0.0:0.1166:0.2648:0.6186	.|.	802|.	P51530|.	DNA2L_HUMAN|.	D|R	888;802|123	ENSP00000382133:A888D;ENSP00000351185:A802D|.	ENSP00000351185:A802D|.	A|S	-|-	2|3	0|2	DNA2|DNA2	69852365|69852365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.353000|2.353000	0.44089|0.44089	0.625000|0.625000	0.30304|0.30304	0.650000|0.650000	0.86243|0.86243	GCT|AGC			0.368	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000048334.2				T	70182359	G	T	70182359	3	4	26	1	0	0	0	0	1	0	0	0	4601	971	34	2	801	2	DNA2	10	70182359	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	64392568	70182359	65352388	37	1739											
NPFFR1	64106	mdanderson.org	37	chr10	72014735	72014735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatatcccaggctggaatgGtgaggggcaggtgggagcag	10	6	19	6	0	0	2	0	1	0	1	1	4	1	4	1	7	1	3	1	7	2	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr10:72014735G>T	ENST00000277942.6	-	4	1270	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	424					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						GGCTGGAATGGTGAGGGGCAG	0.706																																					p.T424N													.	.			0			c.C1271A												6	7	7					10																	72014735		1992	4136	6128	SO:0001583	missense	64106	exon4			GGAATGGTGAGGG	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	17425	protein-coding gene	gene with protein product	"neuropeptide FF 1"	607448	"G protein-coupled receptor 147"	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.1271C>A	10.37:g.72014735G>T	ENSP00000277942:p.Thr424Asn		12	0	0		15	0.13	2	NM_022146	0		0	A2RRF0|Q8NGR0|Q96RN3	Missense_Mutation	SNP	ENST00000277942.6	37	CCDS53539.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239545	0.22711	.	.	ENSG00000148734	ENST00000449957;ENST00000277942	T;T	0.69175	-0.38;-0.38	5.24	3.27	0.37495	.	0.891026	0.09845	N	0.748400	T	0.54191	0.1843	L	0.34521	1.04	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.46978	-0.9152	10	0.52906	T	0.07	.	7.4912	0.27462	0.0:0.3376:0.5152:0.1472	.	424	Q9GZQ6	NPFF1_HUMAN	N	422;424	ENSP00000401171:T422N;ENSP00000277942:T424N	ENSP00000277942:T424N	T	-	2	0	NPFFR1	71684741	0.484000	0.25964	0.904000	0.35570	0.922000	0.55478	2.174000	0.42482	1.145000	0.42336	0.563000	0.77884	ACC			0.706	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048504.2		NM_022146		T	72014735	G	T	72014735	3	4	26	1	0	0	0	0	1	0	0	0	10594	1261	44	3	24	3	NPFFR1	10	72014735	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	1832376	72014735	63520012	38	1740											
NSMCE4A	54780	mdanderson.org	37	chr10	123734659	123734659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccggccctctggcccgcGgccgctgctgtccccagaca	3	5	12	21	4	1	1	0	0	1	1	2	1	2	1	7	3	1	2	7	3	0	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr10:123734659G>T	ENST00000369023.3	-	1	73	c.22C>A	c.(22-24)Cgc>Agc	p.R8S	NSMCE4A_ENST00000369017.5_Missense_Mutation_p.R8S|NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000538652.1_5'Flank	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	8					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				tctggcccgcggccgcTGCTG	0.726																																					p.R8S													.	.			0			c.C22A																																									SO:0001583	missense	54780	exon1			GCCCGCGGCCGCT	AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"chromosome 10 open reading frame 86"	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.22C>A	10.37:g.123734659G>T	ENSP00000358019:p.Arg8Ser		15	0	0		10	0.2	2	NM_017615	3	0	0	Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Missense_Mutation	SNP	ENST00000369023.3	37	CCDS7624.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372241	0.42003	.	.	ENSG00000107672	ENST00000369023;ENST00000369017	T;T	0.44881	0.91;2.1	3.44	2.46	0.29980	.	0.392028	0.18828	N	0.130059	T	0.27454	0.0674	N	0.08118	0	0.80722	D	1	P;P	0.42518	0.754;0.782	P;B	0.46685	0.524;0.4	T	0.10474	-1.0628	10	0.66056	D	0.02	-2.727	7.936	0.29931	0.0:0.0:0.7576:0.2424	.	8;8	Q9NXX6-2;Q9NXX6	.;NSE4A_HUMAN	S	8	ENSP00000358019:R8S;ENSP00000358013:R8S	ENSP00000358013:R8S	R	-	1	0	NSMCE4A	123724649	0.998000	0.40836	0.980000	0.43619	0.361000	0.29550	1.410000	0.34691	1.750000	0.51863	0.455000	0.32223	CGC			0.726	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050749.1		NM_017615		T	123734659	G	T	123734659	3	4	26	1	0	0	0	0	1	0	0	0	10694	1116	39	1	1175	1	NSMCE4A	10	123734659	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	51719924	123734659	11800088	39	1741											
MUC2	4583	mdanderson.org	37	chr11	1093437	1093437	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatcaccaccaccaccacGgtgaccccaaccccgacacc	11	2	4	24	2	1	1	1	1	0	0	1	2	1	1	10	1	1	0	10	1	1	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr11:1093437G>C	ENST00000441003.2	+	30	5283	c.5256G>C	c.(5254-5256)acG>acC	p.T1752T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T40T|MUC2_ENST00000359061.5_Silent_p.T1719T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)		p.T1752T(1)|p.T1719T(1)		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)	ccaccaccacggtgaccccaa	0.632																																					p.T1752T													MUC2_ENST00000441003,NS,carcinoma,0,4	MUC2_ENST00000441003	0	4	2	Substitution - coding silent(2)	kidney(2)	c.G5256C												180	207	198					11																	1093437		2046	4038	6084	SO:0001819	synonymous_variant	4583	exon30			CACCACGGTGACC	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.5256G>C	11.37:g.1093437G>C			41	0	0		29	0.14	4	NM_002457	0		0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		C	1093437	G	C	1093437	2	2	26	1	0	0	0	0	0	0	0	1	9991	1103	39	5		5	MUC2	11	1093437	Silent	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		1093437	133913079	40	1742											
RCN1	5954	mdanderson.org	37	chr11	32112827	32112827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgccgcgggttctgcggGccaagcccacggtgcgcaaa	6	5	16	14	6	1	0	0	0	1	0	1	0	1	0	3	4	3	2	3	4	2	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr11:32112827G>A	ENST00000054950.3	+	1	378	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	RCN1_ENST00000532942.1_Intron	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	29					camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					GGTTCTGCGGGCCAAGCCCAC	0.746																																					p.A29T													.	.			0			c.G85A												3	3	3					11																	32112827		1641	3127	4768	SO:0001583	missense	5954	exon1			CTGCGGGCCAAGC	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"EF-hand domain containing"	9934	protein-coding gene	gene with protein product	"proliferation-inducing gene 20"	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.85G>A	11.37:g.32112827G>A	ENSP00000054950:p.Ala29Thr		64	0	0		56	0.05	3	NM_002901	104	0	0	B7Z1M1|D3DR00	Missense_Mutation	SNP	ENST00000054950.3	37	CCDS7876.1	.	.	.	.	.	.	.	.	.	.	g	18.83	3.707513	0.68615	.	.	ENSG00000049449	ENST00000054950;ENST00000400416	T	0.50001	0.76	3.66	3.66	0.41972	.	6.162270	0.01661	U	0.025125	T	0.42743	0.1216	L	0.34521	1.04	0.27911	N	0.938611	P	0.37781	0.608	B	0.37943	0.261	T	0.36529	-0.9744	10	0.28530	T	0.3	-10.6154	10.6004	0.45362	0.0:0.0:0.8072:0.1928	.	29	Q15293	RCN1_HUMAN	T	29	ENSP00000054950:A29T	ENSP00000054950:A29T	A	+	1	0	RCN1	32069403	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	3.682000	0.54656	1.880000	0.54463	0.187000	0.17357	GCC			0.746	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388510.1		NM_002901		A	32112827	G	A	32112827	3	1	26	1	0	0	0	0	1	0	0	0	13202	1203	42	2	87	2	RCN1	11	32112827	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	31019390	32112827	102893689	41	1743											
EXT2	2132	bcgsc.ca	37	chr11	44130752	44130752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttgacaggtgggatcGaggtacgaatcacctgttgt	9	13	12	7	2	2	1	1	1	1	0	3	4	2	2	1	3	1	2	1	3	2	4	rs563383543	byFrequency	TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr11:44130752G>T	ENST00000343631.3	+	3	674	c.545G>T	c.(544-546)cGa>cTa	p.R182L	EXT2_ENST00000358681.4_Missense_Mutation_p.R182L|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000533608.1_Missense_Mutation_p.R182L|EXT2_ENST00000395673.3_Missense_Mutation_p.R215L			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	182					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						AGGTGGGATCGAGGTACGAAT	0.443			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				G|||	4	0.000798722	0	0	5008	,	,		18160	0		0	False		,,,				2504	0.0041				p.R215L			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	EXT2_ENST00000358681,NS,carcinoma,0,6	EXT2	129	6	0			c.G644T												106	105	105					11																	44130752		2203	4300	6503	SO:0001583	missense	2132	exon3	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	GGGATCGAGGTAC		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.545G>T	11.37:g.44130752G>T	ENSP00000342656:p.Arg182Leu		76	0	0		75	0.07	5	NM_000401	84	0	0	B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549205	0.65311	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	5.48	5.48	0.80851	.	0.128841	0.52532	D	0.000073	D	0.97879	0.9303	M	0.67397	2.05	0.58432	D	0.999999	B;P;P;P;P	0.39696	0.362;0.677;0.626;0.683;0.683	B;P;B;P;P	0.45406	0.219;0.479;0.347;0.479;0.479	D	0.97945	1.0328	10	0.38643	T	0.18	3.7097	19.3624	0.94446	0.0:0.0:1.0:0.0	.	182;182;182;182;195	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	L	182;182;215;182	ENSP00000431173:R182L;ENSP00000351509:R182L;ENSP00000379032:R215L;ENSP00000342656:R182L	ENSP00000342656:R182L	R	+	2	0	EXT2	44087328	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.232000	0.58645	2.567000	0.86603	0.655000	0.94253	CGA			0.443	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390074.1		NM_000401		T	44130752	G	T	44130752	3	4	26	1	0	0	0	0	1	0	0	0	5331	1058	37	1	654	1	EXT2	11	44130752	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	12017925	44130752	90875764	42	1744											
BRMS1	25855	mdanderson.org	37	chr11	66109598	66109598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgactctgtctggctGccgctccgctcctcctcact	2	14	7	18	2	5	1	1	1	4	0	8	1	8	1	4	1	1	3	4	1	0	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr11:66109598G>T	ENST00000359957.3	-	2	268	c.108C>A	c.(106-108)ggC>ggA	p.G36G	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Silent_p.G36G	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	36					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTGTCTGGCTGCCGCTCCGCT	0.562																																					p.G36G	GBM(7;55 307 2662 20856 28942)												.	.			0			c.C108A												148	111	124					11																	66109598		2200	4295	6495	SO:0001819	synonymous_variant	25855	exon2			CTGGCTGCCGCTC	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.108C>A	11.37:g.66109598G>T			54	0	0		56	0.07	4	NM_001024957	170	0	0	Q6IAI2	Silent	SNP	ENST00000359957.3	37	CCDS8135.1																																																																																					0.562	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392958.2		NM_015399		T	66109598	G	T	66109598	2	4	26	1	0	0	0	0	0	0	0	1	1518	1306	46	2		2	BRMS1	11	66109598	Silent	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	21978846	66109598	68896918	43	1745											
PITPNM1	9600	mdanderson.org	37	chr11	67259714	67259714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccgaggaggcatgcgaGtgcgagcccgcttccagctg	6	6	16	13	4	0	0	0	0	0	0	2	4	2	1	3	3	4	3	3	3	0	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr11:67259714G>A	ENST00000534749.1	-	23	3713	c.3525C>T	c.(3523-3525)caC>caT	p.H1175H	PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Silent_p.H1175H|PITPNM1_ENST00000436757.2_Silent_p.H1174H			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1175					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						AGGCATGCGAGTGCGAGCCCG	0.667																																					p.H1175H	GBM(28;144 709 4607 5525)												.	.			0			c.C3525T												23	24	24					11																	67259714		2198	4289	6487	SO:0001819	synonymous_variant	9600	exon24			ATGCGAGTGCGAG	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.3525C>T	11.37:g.67259714G>A			73	0	0		44	0.07	3	NM_004910	49	0	0	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	CCDS31620.1																																																																																					0.667	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395520.1		NM_004910		A	67259714	G	A	67259714	2	1	26	1	0	0	0	0	0	0	0	1	11967	1020	36	3		3	PITPNM1	11	67259714	Silent	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	1150116	67259714	67746802	44	1746											
SHANK2	22941	hgsc.bcm.edu;mdanderson.org	37	chr11	70332654	70332654	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcattttggtatcaatGtaaagaggtttgttgaggtc	9	14	13	5	1	1	2	1	1	0	1	2	2	1	2	1	4	0	5	1	4	4	6	rs375960981		TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr11:70332654G>T	ENST00000423696.2	-	15	2643	c.2607C>A	c.(2605-2607)taC>taA	p.Y869*	SHANK2_ENST00000449833.2_Nonsense_Mutation_p.Y653*|SHANK2_ENST00000409161.1_Nonsense_Mutation_p.Y652*|SHANK2_ENST00000338508.4_Nonsense_Mutation_p.Y1249*			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	869					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)			TGGTATCAATGTAAAGAGGTT	0.622																																					p.Y660X													.	.			0			c.C1980A												82	90	87					11																	70332654		2200	4294	6494	SO:0001587	stop_gained	22941	exon10			ATCAATGTAAAGA	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.2607C>A	11.37:g.70332654G>T	ENSP00000394536:p.Tyr869*		131	0	0		96	0.04	4	NM_133266	0		0	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Nonsense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	G	37	6.454313	0.97581	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	.	.	.	4.88	1.99	0.26369	.	0.106709	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.662	0.28409	0.4071:0.0:0.5929:0.0	.	.	.	.	X	653;652;527;1249;869;887;872	.	ENSP00000294018:Y872X	Y	-	3	2	SHANK2	70010302	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	0.640000	0.24705	0.476000	0.27440	0.561000	0.74099	TAC			0.622	SHANK2-203	KNOWN	basic	protein_coding	protein_coding				NM_012309		T	70332654	G	T	70332654	4	4	26	1	0	0	0	0	0	1	0	0	14288	1372	48	3	1813	3	SHANK2	11	70332654	Nonsense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	3072940	70332654	64673862	45	1747											
NEU3	10825	mdanderson.org	37	chr11	74716883	74716883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgacctaggggtcacAtggcaccatggtagactcat	11	9	12	9	0	2	3	2	2	0	1	2	3	2	3	2	4	0	2	2	4	2	2			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr11:74716883A>G	ENST00000544263.1	+	4	803	c.633A>G	c.(631-633)acA>acG	p.T211T	NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000545272.1_Silent_p.T135T|NEU3_ENST00000531509.1_Silent_p.T244T|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000294064.4_Silent_p.T244T			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	211					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TAGGGGTCACATGGCACCATG	0.507																																					p.T244T													.	.			0			c.A732G												100	97	98					11																	74716883		1987	4179	6166	SO:0001819	synonymous_variant	10825	exon3			GGTCACATGGCAC	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.633A>G	11.37:g.74716883A>G			47	0	0		43	0.07	3	NM_006656	10	0	0	A8K327|Q9NQE1	Silent	SNP	ENST00000544263.1	37																																																																																						0.507	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_006656		G	74716883	A	G	74716883	2	3	26	1	0	0	0	0	0	0	0	1	10360	204	8	4		4	NEU3	11	74716883	Silent	SNP	A	TCGA-2G-AAGC-01A-21D-A42Y-10	4384229	74716883	60289633	46	1748											
BCO2	83875	mdanderson.org	37	chr11	112071435	112071435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaaaggccttttcagatgGgataagctgggaaccccagt	11	8	14	8	0	1	1	1	0	0	1	1	4	1	4	3	4	2	1	3	4	3	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr11:112071435G>T	ENST00000357685.5	+	7	1100	c.965G>T	c.(964-966)gGg>gTg	p.G322V	BCO2_ENST00000532593.1_Missense_Mutation_p.G217V|BCO2_ENST00000393032.2_Missense_Mutation_p.G288V|BCO2_ENST00000531169.1_Missense_Mutation_p.G288V|BCO2_ENST00000438022.1_Missense_Mutation_p.G288V|BCO2_ENST00000361053.4_Missense_Mutation_p.G249V|BCO2_ENST00000526088.1_Missense_Mutation_p.G288V			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	322					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TTTTCAGATGGGATAAGCTGG	0.398																																					p.G322V	GBM(177;1916 2099 21049 29541 39946)												.	.			0			c.G965T												112	116	115					11																	112071435		2201	4297	6498	SO:0001583	missense	83875	exon7			CAGATGGGATAAG	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.965G>T	11.37:g.112071435G>T	ENSP00000350314:p.Gly322Val		159	0	0		113	0.04	5	NM_031938	0		0	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813806	0.32053	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4	5.54	2.54	0.30619	.	0.198205	0.53938	D	0.000055	D	0.92044	0.7479	L	0.58669	1.825	0.80722	D	1	B;P;B;B	0.43578	0.029;0.811;0.024;0.011	B;B;B;B	0.42625	0.189;0.393;0.144;0.042	D	0.89494	0.3759	10	0.42905	T	0.14	-22.2124	16.9348	0.86200	0.0:0.5004:0.4996:0.0	.	299;249;322;149	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7	.;.;BCDO2_HUMAN;.	V	322;288;249;288;288;217;288	ENSP00000350314:G322V;ENSP00000376752:G288V;ENSP00000354338:G249V;ENSP00000414843:G288V;ENSP00000436615:G288V;ENSP00000431802:G217V;ENSP00000437053:G288V	ENSP00000350314:G322V	G	+	2	0	BCO2	111576645	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.914000	0.39966	0.262000	0.21774	0.585000	0.79938	GGG			0.398	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256570.3		NM_001037290		T	112071435	G	T	112071435	3	4	26	1	0	0	0	0	1	0	0	0	1385	1232	43	3	991	3	BCO2	11	112071435	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	37354552	112071435	22935081	47	1749											
DDX11	1663	ucsc.edu	37	chr12	31244689	31244689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagatgctgctgcatgcgGccactcggcaggccgcgggc	6	6	15	14	4	1	1	1	0	0	1	2	1	1	1	2	4	4	4	2	4	0	0	rs397842879		TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr12:31244689G>A	ENST00000407793.2	+	10	1377	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	DDX11_ENST00000542838.1_Missense_Mutation_p.A376T|DDX11_ENST00000228264.6_Missense_Mutation_p.A350T|DDX11_ENST00000350437.4_Missense_Mutation_p.A376T|DDX11_ENST00000545668.1_Missense_Mutation_p.A376T|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	376	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGCATGCGGCCACTCGGCA	0.672										Multiple Myeloma(12;0.14)																											p.A376T													.	DDX11	188		0			c.G1126A												26	25	26					12																	31244689		2194	4289	6483	SO:0001583	missense	1663	exon10			CATGCGGCCACTC	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1126G>A	12.37:g.31244689G>A	ENSP00000384703:p.Ala376Thr		142	0.0352112676	5		241	0.11	26	NM_030653	98	0.12	12	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	7.984	0.751761	0.15778	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.71461	-0.57;1.0;-0.57;1.0;1.0	3.05	3.05	0.35203	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.324166	0.32703	N	0.005754	T	0.68109	0.2965	L	0.55834	1.745	0.80722	D	1	P;P;D;P;P	0.59767	0.633;0.814;0.986;0.814;0.905	P;B;P;B;B	0.49799	0.507;0.313;0.622;0.294;0.392	T	0.69300	-0.5181	10	0.56958	D	0.05	.	7.318	0.26511	0.0:0.0:0.738:0.262	.	101;350;376;376;376	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	T	376;376;101;350;376;376	ENSP00000443426:A376T;ENSP00000384703:A376T;ENSP00000228264:A350T;ENSP00000440402:A376T;ENSP00000309965:A376T	ENSP00000228264:A350T	A	+	1	0	DDX11	31135956	0.935000	0.31712	0.573000	0.28510	0.048000	0.14542	1.665000	0.37449	1.535000	0.49220	0.505000	0.49811	GCC			0.672	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653		A	31244689	G	A	31244689	3	1	26	1	0	0	0	0	1	0	0	0	4345	1203	42	2	1160	2	DDX11	12	31244689	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		31244689	102607206	48	1750											
NOC4L	79050	mdanderson.org	37	chr12	132631841	132631841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggagctggccctcagcGcactcctgaagttcgtgcag	7	7	12	15	2	1	1	1	1	0	0	3	2	2	2	3	2	3	4	3	2	1	1	rs375866510		TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr12:132631841G>T	ENST00000330579.1	+	4	402	c.361G>T	c.(361-363)Gca>Tca	p.A121S	DDX51_ENST00000397333.3_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	121					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GGCCCTCAGCGCACTCCTGAA	0.657																																					p.A121S													.	.			0			c.G361T												28	27	27					12																	132631841		2175	4273	6448	SO:0001583	missense	79050	exon4			CTCAGCGCACTCC		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.361G>T	12.37:g.132631841G>T	ENSP00000328854:p.Ala121Ser		60	0	0		54	0.06	3	NM_024078	155	0	0	Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	G	2.742	-0.262106	0.05791	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.68479	-0.33;1.52	4.72	2.14	0.27477	Armadillo-like helical (1);	0.295570	0.36409	N	0.002609	T	0.46308	0.1386	N	0.19112	0.55	0.09310	N	0.999997	B	0.18863	0.031	B	0.19946	0.027	T	0.25012	-1.0144	10	0.22706	T	0.39	-10.1978	8.5396	0.33384	0.8358:0.0:0.1642:0.0	.	121	Q9BVI4	NOC4L_HUMAN	S	121;88	ENSP00000328854:A121S;ENSP00000438255:A88S	ENSP00000328854:A121S	A	+	1	0	NOC4L	131197794	0.700000	0.27796	0.000000	0.03702	0.025000	0.11179	2.570000	0.45981	0.174000	0.19809	-0.701000	0.03672	GCA			0.657	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398999.1		NM_024078		T	132631841	G	T	132631841	3	4	26	1	0	0	0	0	1	0	0	0	10532	1087	38	1	375	1	NOC4L	12	132631841	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	101387152	132631841	1220054	49	1751											
SLC46A3	283537	mdanderson.org	37	chr13	29284959	29284959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagagaatggcacaataGtgaaaaggaacggcaccctg	17	4	12	8	1	0	2	0	1	0	1	0	5	0	3	1	3	2	2	1	3	7	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr13:29284959G>T	ENST00000266943.6	-	4	1451	c.1082C>A	c.(1081-1083)aCt>aAt	p.T361N	SLC46A3_ENST00000380814.4_Missense_Mutation_p.T361N	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	361					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TGGCACAATAGTGAAAAGGAA	0.398																																					p.T361N													.	.			0			c.C1082A												130	124	126					13																	29284959		2203	4300	6503	SO:0001583	missense	283537	exon4			ACAATAGTGAAAA		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1082C>A	13.37:g.29284959G>T	ENSP00000266943:p.Thr361Asn		63	0	0		53	0.06	3	NM_181785	5	0	0	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019754	0.35606	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.57907	0.37;0.37	5.87	1.31	0.21738	Major facilitator superfamily domain, general substrate transporter (1);	1.108970	0.06462	N	0.729520	T	0.47060	0.1425	L	0.51422	1.61	0.09310	N	1	B;B	0.32010	0.302;0.351	B;B	0.35770	0.133;0.21	T	0.34304	-0.9834	10	0.22706	T	0.39	-0.7986	6.9632	0.24610	0.3903:0.1165:0.4932:0.0	.	361;361	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	N	361	ENSP00000266943:T361N;ENSP00000370192:T361N	ENSP00000266943:T361N	T	-	2	0	SLC46A3	28182959	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	1.637000	0.37155	-0.004000	0.14419	-0.150000	0.13652	ACT			0.398	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000276111.1		NM_181785		T	29284959	G	T	29284959	3	4	26	1	0	0	0	0	1	0	0	0	14669	1029	36	3	329	3	SLC46A3	13	29284959	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		29284959	85884919	50	1752											
RFC3	5983	broad.mit.edu	37	chr13	34398073	34398073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactccatctaaaaaaaaaaTtgaaattagcaccattgcaa	20	9	4	8	0	1	1	0	1	1	0	2	2	2	1	2	0	2	2	2	0	8	4			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr13:34398073T>A	ENST00000380071.3	+	3	375	c.245T>A	c.(244-246)aTt>aAt	p.I82N	RFC3_ENST00000434425.1_Missense_Mutation_p.I82N	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	82					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|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)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AAAAAAAAAATTGAAATTAGC	0.284																																					p.I82N													.	RFC3	40		0			c.T245A												28	31	30					13																	34398073		2196	4285	6481	SO:0001583	missense	5983	exon3			AAAAAATTGAAAT		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.245T>A	13.37:g.34398073T>A	ENSP00000369411:p.Ile82Asn		525	0.0019047619	1		474	0.02	10	NM_002915	111	0	0	C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462673	0.84425	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.42513	0.97;0.97	5.74	5.74	0.90152	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.046773	0.85682	D	0.000000	T	0.67268	0.2875	M	0.85197	2.74	0.80722	D	1	D;D;D	0.60160	0.987;0.977;0.977	P;D;D	0.65573	0.879;0.936;0.936	T	0.73388	-0.3998	10	0.87932	D	0	-24.8682	15.2146	0.73254	0.0:0.0:0.0:1.0	.	82;82;82	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	N	82	ENSP00000369411:I82N;ENSP00000401001:I82N	ENSP00000369411:I82N	I	+	2	0	RFC3	33296073	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.498000	0.81546	2.195000	0.70347	0.533000	0.62120	ATT			0.284	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044450.2		NM_002915		A	34398073	T	A	34398073	3	1	26	1	0	0	0	0	1	0	0	0	13269	1493	52	5	255	5	RFC3	13	34398073	Missense_Mutation	SNP	T	TCGA-2G-AAGC-01A-21D-A42Y-10	5113114	34398073	80771805	51	1753											
CDH24	64403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23524544	23524544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcggccctctccccGgtcaacatccgagtgcagct	5	9	11	16	3	2	0	1	0	1	0	4	1	3	0	4	3	4	2	4	3	1	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr14:23524544G>A	ENST00000267383.5	-	2	312	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	CDH24_ENST00000554034.1_Missense_Mutation_p.R74W|CDH24_ENST00000487137.2_Missense_Mutation_p.R74W|CDH24_ENST00000397359.3_Missense_Mutation_p.R74W			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	74	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)	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)		CCCTCTCCCCGGTCAACATCC	0.557											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R74W													CDH24_ENST00000397359,colon,carcinoma,0,2	CDH24_ENST00000397359	0	2	0			c.C220T												45	50	49					14																	23524544		2203	4300	6503	SO:0001583	missense	64403	exon3			CTCCCCGGTCAAC	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.220C>T	14.37:g.23524544G>A	ENSP00000267383:p.Arg74Trp		80	0	0	764	92	0.16	15	NM_022478	20	0.2	4	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791284	0.50102	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.89	-0.95	0.10372	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.72118	2.19	0.47065	D	0.999305	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.987;0.997	T	0.64546	-0.6382	10	0.87932	D	0	.	13.5074	0.61491	0.0:0.0:0.436:0.564	.	74;74;74	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	W	74	ENSP00000380517:R74W;ENSP00000434821:R74W;ENSP00000452493:R74W;ENSP00000267383:R74W	ENSP00000267383:R74W	R	-	1	2	CDH24	22594384	0.000000	0.05858	0.994000	0.49952	0.997000	0.91878	-0.373000	0.07494	-0.490000	0.06707	0.462000	0.41574	CGG			0.557	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000257241.2		NM_022478		A	23524544	G	A	23524544	3	1	26	1	0	0	0	0	1	0	0	0	3111	1115	39	1	2283	1	CDH24	14	23524544	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		23524544	83824996	52	1754											
LRRC16B	90668	broad.mit.edu	37	chr14	24534300	24534300	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggacagggggccggggTcccctaccactggactcctc	6	5	16	14	1	0	0	0	0	0	0	3	2	2	2	5	7	1	0	5	7	1	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr14:24534300T>G	ENST00000342740.5	+	33	3368	c.3214T>G	c.(3214-3216)Tcc>Gcc	p.S1072A	LRRC16B_ENST00000334420.7_Missense_Mutation_p.S168A	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1072	Pro-rich.					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)		GGGGCCGGGGTCCCCTACCAC	0.692																																					p.S1072A													.	LRRC16B	120		0			c.T3214G												9	11	10					14																	24534300		1717	3660	5377	SO:0001583	missense	90668	exon33			CCGGGGTCCCCTA	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.3214T>G	14.37:g.24534300T>G	ENSP00000340467:p.Ser1072Ala		84	0.0595238095	5		112	0.09	10	NM_138360	0		0	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	T	0.826	-0.747031	0.03065	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.42131	2.57;0.98	4.75	3.59	0.41128	.	0.374607	0.19772	N	0.106410	T	0.23572	0.0570	N	0.14661	0.345	0.21861	N	0.999505	B;B	0.24963	0.115;0.007	B;B	0.24155	0.051;0.007	T	0.16364	-1.0405	10	0.25106	T	0.35	-0.3159	8.5186	0.33262	0.0:0.0:0.1962:0.8038	.	168;1072	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	A	1072;168	ENSP00000340467:S1072A;ENSP00000334701:S168A	ENSP00000334701:S168A	S	+	1	0	LRRC16B	23604140	1.000000	0.71417	0.985000	0.45067	0.128000	0.20619	2.504000	0.45416	0.661000	0.30985	-0.501000	0.04562	TCC			0.692	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416527.1		NM_138360		G	24534300	T	G	24534300	3	3	26	1	0	0	0	0	1	0	0	0	8988	1667	58	4	3344	4	LRRC16B	14	24534300	Missense_Mutation	SNP	T	TCGA-2G-AAGC-01A-21D-A42Y-10	1009756	24534300	82815240	53	1755											
LTB4R	1241	broad.mit.edu	37	chr14	24785074	24785074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtattgctcactgctcccTttttccttcacttcctggcc	3	16	5	17	1	2	0	2	0	0	0	5	0	5	0	5	1	2	3	5	1	1	6			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr14:24785074T>C	ENST00000396789.4	+	2	1942	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L|LTB4R_ENST00000396782.2_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																																					p.F73L													.	LTB4R	18		0			c.T217C												183	163	170					14																	24785074		2203	4300	6503	SO:0001583	missense	1241	exon2			GCTCCCTTTTTCC	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		113	0.0088495575	1		122	0.02	3	NM_181657	61	0	0	Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	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				C	24785074	T	C	24785074	3	2	26	1	0	0	0	0	1	0	0	0	9087	1609	56	4	219	4	LTB4R	14	24785074	Missense_Mutation	SNP	T	TCGA-2G-AAGC-01A-21D-A42Y-10	250774	24785074	82564466	54	1756											
BMP4	652	mdanderson.org	37	chr14	54417212	54417212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcccttgaggtaacgatcgGctaatcctgacatgctggcc	8	10	10	13	2	0	2	0	2	0	0	3	3	2	2	3	3	2	3	3	3	2	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr14:54417212G>A	ENST00000245451.4	-	4	1158	c.765C>T	c.(763-765)agC>agT	p.S255S	MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000417573.1_Silent_p.S255S|BMP4_ENST00000559087.1_Silent_p.S255S|BMP4_ENST00000558984.1_Silent_p.S255S	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	255					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|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)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GTAACGATCGGCTAATCCTGA	0.622																																					p.S255S													.	.			0			c.C765T												79	67	71					14																	54417212		2203	4300	6503	SO:0001819	synonymous_variant	652	exon4			CGATCGGCTAATC	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.765C>T	14.37:g.54417212G>A			60	0	0		49	0.06	3	NM_130851	249	0	0	Q9UM80	Silent	SNP	ENST00000245451.4	37	CCDS9715.1																																																																																					0.622	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276894.2		NM_001202		A	54417212	G	A	54417212	2	1	26	1	0	0	0	0	0	0	0	1	1462	1194	42	2		2	BMP4	14	54417212	Silent	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	29632138	54417212	52932328	55	1757											
ASB2	51676	broad.mit.edu;mdanderson.org	37	chr14	94417390	94417390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaactgtccactctgggCggccacgaacaagggggtga	9	6	13	13	2	1	1	0	1	1	0	3	2	3	1	3	4	2	0	3	4	3	0	rs142812400	byFrequency	TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr14:94417390C>T	ENST00000315988.4	-	4	1179	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	ASB2_ENST00000555019.1_Missense_Mutation_p.A279T|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	231					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCACTCTGGGCGGCCACGAAC	0.587													C|||	2	0.000399361	8e-04	0	5008	,	,		20770	0		0	False		,,,				2504	0.001				p.A279T													ASB2,lower_third,carcinoma,+2,1	ASB2	71	1	0			c.G835A							C	THR/ALA,THR/ALA	0,4406		0,0,2203	153	141	145		835,691	4.7	1	14	dbSNP_134	145	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	ASB2	NM_001202429.1,NM_016150.4	58,58	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	279/636,231/588	94417390	4,13002	2203	4300	6503	SO:0001583	missense	51676	exon6			TCTGGGCGGCCAC	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.691G>A	14.37:g.94417390C>T	ENSP00000320675:p.Ala231Thr		147	0	0		173	0.03	6	NM_001202429	12	0	0	B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923305	0.92319	0.0	4.65E-4	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	T;T;T;T	0.72051	-0.6;-0.6;-0.62;-0.37	5.62	4.68	0.58851	Ankyrin repeat-containing domain (3);	0.052788	0.85682	D	0.000000	D	0.83700	0.5311	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.69824	0.966;0.711;0.966	D	0.85527	0.1207	10	0.62326	D	0.03	-28.8957	15.3418	0.74303	0.1402:0.8598:0.0:0.0	.	247;279;231	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	T	279;247;231;177;177;125	ENSP00000451575:A279T;ENSP00000320675:A231T;ENSP00000450940:A177T;ENSP00000451694:A125T	ENSP00000320675:A231T	A	-	1	0	ASB2	93487143	1.000000	0.71417	0.957000	0.39632	0.824000	0.46624	5.995000	0.70631	2.644000	0.89710	0.561000	0.74099	GCC			0.587	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000412845.1				T	94417390	C	T	94417390	3	4	26	1	0	0	0	0	1	0	0	0	1023	768	27	1	1092	1	ASB2	14	94417390	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	40000178	94417390	12932150	56	1758											
KIF7	374654	mdanderson.org	37	chr15	90176925	90176925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagcctgaccttgacgcGgtgctgccgcttgctcattt	4	12	12	13	4	1	3	1	3	0	0	1	3	1	3	3	1	4	3	3	1	0	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr15:90176925G>T	ENST00000394412.3	-	12	2660	c.2584C>A	c.(2584-2586)Cgc>Agc	p.R862S		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	862					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCTTGACGCGGTGCTGCCGC	0.677																																					p.R862S													.	.			0			c.C2584A																																									SO:0001583	missense	374654	exon12			TGACGCGGTGCTG	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2584C>A	15.37:g.90176925G>T	ENSP00000377934:p.Arg862Ser		28	0	0		43	0.07	3	NM_198525	23	0	0	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920538	0.52653	.	.	ENSG00000166813	ENST00000394412	T	0.37915	1.17	5.12	5.12	0.69794	.	0.048900	0.85682	D	0.000000	T	0.44953	0.1318	M	0.70275	2.135	0.54753	D	0.999988	P;P	0.48589	0.857;0.912	P;P	0.47626	0.552;0.507	T	0.39461	-0.9613	10	0.36615	T	0.2	.	13.5026	0.61467	0.0:0.0:0.8436:0.1564	.	348;862	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	S	862	ENSP00000377934:R862S	ENSP00000377934:R862S	R	-	1	0	KIF7	87977929	1.000000	0.71417	0.990000	0.47175	0.888000	0.51559	3.265000	0.51561	2.378000	0.81104	0.491000	0.48974	CGC			0.677	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347782.1		NM_198525		T	90176925	G	T	90176925	3	4	26	1	0	0	0	0	1	0	0	0	8324	1116	39	1	1479	1	KIF7	15	90176925	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		90176925	12354467	57	1759											
C16orf79	283870	mdanderson.org	37	chr16	2259985	2259985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagccgcagggtctccCgatcactgtcctccatcagg	7	7	10	17	2	3	0	2	0	1	0	6	1	5	0	5	2	2	2	5	2	0	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr16:2259985C>T	ENST00000562360.1	-	4	403	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	BRICD5_ENST00000328540.3_Missense_Mutation_p.R135Q|RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000566018.1_3'UTR			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	135	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											CAGGGTCTCCCGATCACTGTC	0.692																																					p.R135Q													.	.			0			c.G404A												24	24	24					16																	2259985		2195	4298	6493	SO:0001583	missense	283870	exon4			GTCTCCCGATCAC	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.404G>A	16.37:g.2259985C>T	ENSP00000455052:p.Arg135Gln		42	0	0		58	0.09	5	NM_182563	16	0	0	C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738291	0.30774	.	.	ENSG00000182685	ENST00000328540	T	0.78707	-1.2	5.58	2.52	0.30459	BRICHOS (2);	0.758427	0.13185	N	0.407181	T	0.60196	0.2250	.	.	.	0.09310	N	0.999999	B;B	0.31817	0.341;0.077	B;B	0.24006	0.05;0.013	T	0.41270	-0.9518	9	0.25106	T	0.35	-3.9565	7.8112	0.29232	0.0:0.7299:0.0:0.2701	.	135;135	Q6PL45;Q6PL45-2	CP079_HUMAN;.	Q	135	ENSP00000332389:R135Q	ENSP00000332389:R135Q	R	-	2	0	C16orf79	2199986	0.000000	0.05858	0.009000	0.14445	0.837000	0.47467	-0.008000	0.12788	0.287000	0.22375	0.561000	0.74099	CGG			0.692	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000435091.1		NM_182563		T	2259985	C	T	2259985	3	4	26	1	0	0	0	0	1	0	0	0	1838	652	23	1	294	1	C16orf79	16	2259985	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10		2259985	88094768	58	1760											
ABCC1	4363	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	16225711	16225711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgggccgagtggaattCcggaactactgcctgcgcta	8	8	14	11	3	0	0	0	0	0	0	1	3	1	2	3	4	4	1	3	4	4	3	rs45533037		TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr16:16225711C>A	ENST00000399410.3	+	27	4060	c.3885C>A	c.(3883-3885)ttC>ttA	p.F1295L	ABCC1_ENST00000399408.2_Missense_Mutation_p.F1305L|ABCC1_ENST00000345148.5_Missense_Mutation_p.F1295L|ABCC1_ENST00000346370.5_Missense_Mutation_p.F1239L|ABCC1_ENST00000349029.5_Missense_Mutation_p.F1180L|ABCC1_ENST00000351154.5_Missense_Mutation_p.F1236L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1295	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|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)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GAGTGGAATTCCGGAACTACT	0.582																																					p.F1295L													.	.			0			c.C3885A												58	60	59					16																	16225711		2007	4168	6175	SO:0001583	missense	4363	exon27			GGAATTCCGGAAC	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3885C>A	16.37:g.16225711C>A	ENSP00000382342:p.Phe1295Leu		106	0	0		113	0.1	11	NM_004996	91	0.19	17	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483708	0.44147	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.11	5.11	0.69529	ABC transporter-like (1);	0.109676	0.64402	D	0.000009	D	0.90662	0.7071	L	0.33189	0.99	0.46044	D	0.998833	B;B;B;D;B;B	0.64830	0.088;0.338;0.199;0.994;0.126;0.199	B;B;B;D;B;B	0.64237	0.053;0.26;0.086;0.923;0.04;0.086	D	0.90342	0.4360	10	0.56958	D	0.05	-34.1301	9.4489	0.38714	0.0:0.8373:0.0:0.1627	.	1180;1295;1239;1236;1295;1305	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	L	1295;1305;1239;1236;1295;1180;979	ENSP00000382342:F1295L;ENSP00000382340:F1305L;ENSP00000263019:F1239L;ENSP00000263017:F1236L;ENSP00000263014:F1295L;ENSP00000263016:F1180L	ENSP00000263014:F1295L	F	+	3	2	ABCC1	16133212	0.023000	0.18921	1.000000	0.80357	0.220000	0.24768	0.331000	0.19733	2.387000	0.81309	0.655000	0.94253	TTC			0.582	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109701.1		NM_004996		A	16225711	C	A	16225711	3	1	26	1	0	0	0	0	1	0	0	0	49	854	30	3	3991	3	ABCC1	16	16225711	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	13965726	16225711	74129042	59	1761											
PRSS53	339105	mdanderson.org	37	chr16	31097783	31097783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggcgactgatgagacGcaggcgcagattgcgtaggg	8	7	19	7	4	0	3	0	2	0	2	0	5	0	3	0	4	1	3	0	4	1	2			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr16:31097783G>A	ENST00000280606.6	-	5	691	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	180	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CTGATGAGACGCAGGCGCAGA	0.622																																					p.R180C													PRSS53,NS,carcinoma,0,1	PRSS53	0	1	0			c.C538T												38	44	42					16																	31097783		2075	4222	6297	SO:0001583	missense	339105	exon5			TGAGACGCAGGCG		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.538C>T	16.37:g.31097783G>A	ENSP00000280606:p.Arg180Cys		61	0	0		43	0.07	3	NM_001039503	3	0	0		Missense_Mutation	SNP	ENST00000280606.6	37	CCDS42153.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724636	0.68959	.	.	ENSG00000151006	ENST00000280606	D	0.89270	-2.49	5.66	5.66	0.87406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37178	U	0.002216	D	0.94023	0.8085	M	0.73319	2.225	0.54753	D	0.999988	D	0.89917	1.0	D	0.85130	0.997	D	0.94231	0.7476	10	0.72032	D	0.01	.	17.2498	0.87039	0.0:0.0:1.0:0.0	.	180	Q2L4Q9	PRS53_HUMAN	C	180	ENSP00000280606:R180C	ENSP00000280606:R180C	R	-	1	0	PRSS53	31005284	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	5.996000	0.70639	2.665000	0.90641	0.655000	0.94253	CGT			0.622	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000108580.4		NM_001081268		A	31097783	G	A	31097783	3	1	26	1	0	0	0	0	1	0	0	0	12652	1087	38	1	1151	1	PRSS53	16	31097783	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	14872072	31097783	59256970	60	1762											
MYH4	4622	broad.mit.edu	37	chr17	10368813	10368813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaagatatggggtggggCctcctggcgctttttgcctc	5	11	16	9	1	0	2	0	0	0	2	2	3	1	2	3	6	1	1	3	6	2	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr17:10368813C>A	ENST00000255381.2	-	5	561	c.451G>T	c.(451-453)Gcc>Tcc	p.A151S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	151	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGGGTGGGGCCTCCTGGCGC	0.502																																					p.A151S													.	MYH4	349		0			c.G451T												157	163	161					17																	10368813		2203	4300	6503	SO:0001583	missense	4622	exon5			GTGGGGCCTCCTG		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.451G>T	17.37:g.10368813C>A	ENSP00000255381:p.Ala151Ser		118	0.0084745763	1		190	0.04	7	NM_017533	0		0		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501696	0.96371	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	D	0.87729	-2.29	4.95	4.95	0.65309	Myosin head, motor domain (2);	0.000000	0.37178	U	0.002217	D	0.88672	0.6500	L	0.51853	1.615	0.80722	D	1	B	0.15719	0.014	B	0.38655	0.278	D	0.86337	0.1702	10	0.87932	D	0	.	18.7315	0.91736	0.0:1.0:0.0:0.0	.	151	Q9Y623	MYH4_HUMAN	S	151	ENSP00000255381:A151S	ENSP00000431873:A151S	A	-	1	0	MYH2;MYH4	10309538	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.553000	0.82203	2.728000	0.93425	0.650000	0.86243	GCC			0.502	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252731.1		NM_017533		A	10368813	C	A	10368813	3	1	26	1	0	0	0	0	1	0	0	0	10053	739	26	2	5512	2	MYH4	17	10368813	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10		10368813	70826397	61	1763											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		292	0.0445205479	13		307	0.06	19	NM_145301	78	0.54	42	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	26	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	5088274	15457087	65738123	62	1764											
MYO15A	51168	broad.mit.edu	37	chr17	18025400	18025400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccttggcgcccatcaggGccccagagcccctgcccaag	6	4	10	21	1	1	1	1	0	0	1	1	1	1	1	8	2	2	0	8	2	1	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr17:18025400G>T	ENST00000205890.5	+	2	3624	c.3286G>T	c.(3286-3288)Gcc>Tcc	p.A1096S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1096					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)					GCCCATCAGGGCCCCAGAGCC	0.677																																					p.A1096S													.	MYO15A	268		0			c.G3286T												38	44	42					17																	18025400		1919	4117	6036	SO:0001583	missense	51168	exon2			ATCAGGGCCCCAG	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.3286G>T	17.37:g.18025400G>T	ENSP00000205890:p.Ala1096Ser		75	0.0266666667	2		94	0.11	10	NM_016239	0		0	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	10.17	1.276576	0.23307	.	.	ENSG00000091536	ENST00000205890	D	0.88354	-2.37	4.86	-3.09	0.05331	.	.	.	.	.	T	0.77538	0.4145	L	0.27053	0.805	0.09310	N	1	B	0.24186	0.099	B	0.16722	0.016	T	0.60596	-0.7232	9	0.21014	T	0.42	.	8.0181	0.30393	0.1672:0.5352:0.2975:0.0	.	1096	Q9UKN7	MYO15_HUMAN	S	1096	ENSP00000205890:A1096S	ENSP00000205890:A1096S	A	+	1	0	MYO15A	17966125	0.000000	0.05858	0.005000	0.12908	0.013000	0.08279	-0.407000	0.07178	-0.438000	0.07232	-0.304000	0.09214	GCC			0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132048.1		NM_016239		T	18025400	G	T	18025400	3	4	26	1	0	0	0	0	1	0	0	0	10079	1203	42	2	3288	2	MYO15A	17	18025400	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	2568313	18025400	63169810	63	1765											
SDK2	54549	broad.mit.edu	37	chr17	71503707	71503707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcacctgtgtccgcacagGctctgtcttgaaatacgggg	7	10	13	11	2	2	1	0	1	2	0	3	1	3	1	2	3	2	3	2	3	2	2			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr17:71503707G>T	ENST00000392650.3	-	2	94	c.94C>A	c.(94-96)Cct>Act	p.P32T	SDK2_ENST00000388726.3_Missense_Mutation_p.P32T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	32	Ig-like C2-type 1.				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						GTCCGCACAGGCTCTGTCTTG	0.542																																					p.P32T													.	SDK2	219		0			c.C94A												110	101	104					17																	71503707		692	1591	2283	SO:0001583	missense	54549	exon2			GCACAGGCTCTGT	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.94C>A	17.37:g.71503707G>T	ENSP00000376421:p.Pro32Thr		99	0.0101010101	1		100	0.04	4	NM_001144952	2	0	0	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387031	0.82902	.	.	ENSG00000069188	ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.78364	-1.17;-1.17	5.26	5.26	0.73747	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	U	0.000037	D	0.86184	0.5872	M	0.86268	2.805	0.58432	D	0.999999	B	0.31640	0.333	P	0.44422	0.449	D	0.86888	0.2046	10	0.66056	D	0.02	.	18.4629	0.90746	0.0:0.0:1.0:0.0	.	32	Q58EX2	SDK2_HUMAN	T	32	ENSP00000376421:P32T;ENSP00000373378:P32T	ENSP00000324967:P32T	P	-	1	0	SDK2	69015302	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	9.696000	0.98695	2.462000	0.83206	0.561000	0.74099	CCT			0.542	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327598.2		NM_019064		T	71503707	G	T	71503707	3	4	26	1	0	0	0	0	1	0	0	0	13992	1203	42	2	6600	2	SDK2	17	71503707	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	53478307	71503707	9691503	64	1766											
DLGAP1	9229	mdanderson.org	37	chr18	3879777	3879777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggttggcggggatgcGgttcgccttggtggccaggg	4	8	20	9	3	0	0	0	0	0	0	1	1	0	1	2	8	2	3	2	8	0	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr18:3879777G>T	ENST00000315677.3	-	4	887	c.292C>A	c.(292-294)Cgc>Agc	p.R98S	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R98S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R98S|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R98S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	98					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCGGGGATGCGGTTCGCCTTG	0.677																																					p.R98S													.	.			0			c.C292A												46	47	47					18																	3879777		2203	4298	6501	SO:0001583	missense	9229	exon4			GGATGCGGTTCGC	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.292C>A	18.37:g.3879777G>T	ENSP00000316377:p.Arg98Ser		29	0	0		24	0.08	2	NM_001242761	2	0	0	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587878	0.66105	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.32023	1.47;1.47	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.85462	2.755	0.80722	D	1	P;D;P	0.53745	0.935;0.962;0.935	B;P;P	0.53490	0.386;0.59;0.727	T	0.62950	-0.6745	10	0.87932	D	0	-23.6449	19.6689	0.95903	0.0:0.0:1.0:0.0	.	98;98;98	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	S	98	ENSP00000316377:R98S;ENSP00000445973:R98S	ENSP00000316377:R98S	R	-	1	0	DLGAP1	3869777	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	9.814000	0.99346	2.642000	0.89623	0.655000	0.94253	CGC			0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254394.4				T	3879777	G	T	3879777	3	4	26	1	0	0	0	0	1	0	0	0	4564	1116	39	1	2736	1	DLGAP1	18	3879777	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		3879777	74197471	65	1767											
POLRMT	5442	mdanderson.org	37	chr19	619054	619054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacgcccaggggtgtgacCcactccaccacagagcccat	9	4	12	16	1	0	2	0	1	0	1	1	3	1	3	5	3	1	0	5	3	0	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr19:619054C>A	ENST00000588649.2	-	15	3294	c.3210G>T	c.(3208-3210)tgG>tgT	p.W1070C	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1070	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		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)		GGGGTGTGACCCACTCCACCA	0.667																																					p.W1070C													.	.			0			c.G3210T												52	48	49					19																	619054		2201	4300	6501	SO:0001583	missense	5442	exon15			TGTGACCCACTCC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3210G>T	19.37:g.619054C>A	ENSP00000465759:p.Trp1070Cys		69	0.0144927536	1		94	0.05	5	NM_005035	211	0	0	O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	13.63	2.295160	0.40594	.	.	ENSG00000099821	ENST00000215591	T	0.71934	-0.61	4.21	4.21	0.49690	.	0.231411	0.41823	D	0.000818	D	0.89491	0.6730	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93396	0.6756	10	0.87932	D	0	-15.535	15.7617	0.78087	0.0:1.0:0.0:0.0	.	1070	O00411	RPOM_HUMAN	C	1070	ENSP00000215591:W1070C	ENSP00000215591:W1070C	W	-	3	0	POLRMT	570054	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	6.752000	0.74898	2.181000	0.69327	0.456000	0.33151	TGG			0.667	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452172.3		NM_005035		A	619054	C	A	619054	3	1	26	1	0	0	0	0	1	0	0	0	12255	624	22	3	510	3	POLRMT	19	619054	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10		619054	58509929	66	1768											
LINGO3	645191	mdanderson.org	37	chr19	2290612	2290612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcaggtttcgcagcgcGtcgccgcgcacctcggccgg	3	6	15	17	9	0	0	0	0	0	0	4	0	1	0	4	4	1	4	4	4	0	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr19:2290612G>T	ENST00000585527.1	-	1	1411	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	LINGO3_ENST00000404279.1_Missense_Mutation_p.D388E			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	388	LRRCT.					integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						TTCGCAGCGCGTCGCCGCGCA	0.711																																					p.D388E													.	.			0			c.C1164A												7	8	8					19																	2290612		1975	4058	6033	SO:0001583	missense	645191	exon2			CAGCGCGTCGCCG	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1164C>A	19.37:g.2290612G>T	ENSP00000467753:p.Asp388Glu		29	0	0		23	0.09	2	NM_001101391	3	0	0		Missense_Mutation	SNP	ENST00000585527.1	37	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.051814	0.36181	.	.	ENSG00000220008	ENST00000404279	T	0.55052	0.54	4.27	-1.99	0.07457	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.27098	0.0664	N	0.08118	0	0.26195	N	0.979521	B	0.22909	0.077	B	0.24006	0.05	T	0.19877	-1.0292	9	0.41790	T	0.15	.	5.1839	0.15174	0.4295:0.1463:0.4243:0.0	.	388	P0C6S8	LIGO3_HUMAN	E	388	ENSP00000384979:D388E	ENSP00000384979:D388E	D	-	3	2	LINGO3	2241612	0.307000	0.24500	0.864000	0.33941	0.709000	0.40893	-0.033000	0.12246	-0.042000	0.13535	0.313000	0.20887	GAC			0.711	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000451291.2		NM_001101391		T	2290612	G	T	2290612	3	4	26	1	0	0	0	0	1	0	0	0	8831	1136	40	1	618	1	LINGO3	19	2290612	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	1671558	2290612	56838371	67	1769											
LMNB2	84823	mdanderson.org	37	chr19	2434504	2434504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgaatgcgatcttcagCggcactggcctgcggagggg	6	7	15	13	4	2	0	1	0	1	0	3	3	3	1	2	5	3	1	2	5	1	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr19:2434504C>T	ENST00000582871.1	-	7	1017	c.931G>A	c.(931-933)Gct>Act	p.A311T	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Missense_Mutation_p.A331T	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	311	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CGATCTTCAGCGGCACTGGCC	0.672																																					p.A331T													.	.			0			c.G991A												44	37	39					19																	2434504		2201	4299	6500	SO:0001583	missense	84823	exon7			CTTCAGCGGCACT	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.931G>A	19.37:g.2434504C>T	ENSP00000462730:p.Ala311Thr		78	0.0128205128	1		47	0.06	3	NM_032737	308	0	0	O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37		.	.	.	.	.	.	.	.	.	.	C	4.833	0.154862	0.09236	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.14	4.14	0.48551	Filament (1);	0.061583	0.64402	D	0.000005	T	0.54727	0.1876	M	0.64997	1.995	0.31947	N	0.610197	B	0.22800	0.075	B	0.24006	0.05	T	0.60326	-0.7285	9	0.27082	T	0.32	.	14.9833	0.71327	0.0:1.0:0.0:0.0	.	311	Q03252	LMNB2_HUMAN	T	311	.	ENSP00000327054:A311T	A	-	1	0	LMNB2	2385504	1.000000	0.71417	0.026000	0.17262	0.282000	0.26991	4.797000	0.62503	1.855000	0.53841	0.561000	0.74099	GCT			0.672	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_032737		T	2434504	C	T	2434504	3	4	26	1	0	0	0	0	1	0	0	0	8865	768	27	1	895	1	LMNB2	19	2434504	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	143892	2434504	56694479	68	1770											
EEF2	1938	mdanderson.org	37	chr19	3976653	3976653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggggcggctgctgttgtCgaaggggtctccgggcagga	4	8	20	9	3	1	0	0	0	1	0	3	2	1	1	1	7	1	5	1	7	1	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr19:3976653C>T	ENST00000309311.6	-	15	2564	c.2476G>A	c.(2476-2478)Gac>Aac	p.D826N		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	826					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGTTGTCGAAGGGGTCT	0.632																																					p.D826N	Colon(165;1804 1908 4071 6587 18799)												.	.			0			c.G2476A												30	26	27					19																	3976653		2202	4299	6501	SO:0001583	missense	1938	exon15			TGTTGTCGAAGGG	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.2476G>A	19.37:g.3976653C>T	ENSP00000307940:p.Asp826Asn		28	0	0		36	0.08	3	NM_001961	8078	0	10	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084899	0.76642	.	.	ENSG00000167658	ENST00000309311	T	0.64803	-0.12	5.41	5.41	0.78517	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.218928	0.45606	D	0.000360	T	0.68933	0.3055	M	0.82823	2.61	0.80722	D	1	P	0.45126	0.851	B	0.41510	0.359	T	0.75513	-0.3291	10	0.56958	D	0.05	-47.5377	18.1964	0.89823	0.0:1.0:0.0:0.0	.	826	P13639	EF2_HUMAN	N	826	ENSP00000307940:D826N	ENSP00000307940:D826N	D	-	1	0	EEF2	3927653	1.000000	0.71417	0.104000	0.21259	0.805000	0.45488	7.514000	0.81750	2.527000	0.85204	0.651000	0.88453	GAC			0.632	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457615.2		NM_001961		T	3976653	C	T	3976653	3	4	26	1	0	0	0	0	1	0	0	0	4934	884	31	1	104	1	EEF2	19	3976653	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	1542149	3976653	55152330	69	1771											
LPHN1	22859	broad.mit.edu	37	chr19	14261858	14261858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtagatttcgggggggcCggggggtgcgggagggggtg	4	7	26	4	3	0	1	0	0	0	1	1	2	0	2	1	9	1	2	1	9	2	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr19:14261858C>G	ENST00000340736.6	-	24	4549	c.4252G>C	c.(4252-4254)Ggc>Cgc	p.G1418R	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.G1413R|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1418	Poly-Pro.				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						TCGGGGGGGCCGGGGGGTGCG	0.721																																					p.G1418R													LPHN1,NS,carcinoma,0,1	LPHN1	107	1	0			c.G4252C												2	3	2					19																	14261858		1217	2889	4106	SO:0001583	missense	22859	exon24			GGGGGCCGGGGGG	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.4252G>C	19.37:g.14261858C>G	ENSP00000340688:p.Gly1418Arg		48	0.0208333333	1		40	0.13	5	NM_001008701	35	0	0	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312147	0.40895	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.71341	-0.56;-0.56	3.94	3.94	0.45596	GPCR, family 2, latrophilin, C-terminal (1);	0.107189	0.38837	N	0.001553	T	0.58352	0.2116	N	0.22421	0.69	0.42714	D	0.993656	B;B	0.22276	0.054;0.067	B;B	0.25614	0.037;0.062	T	0.61510	-0.7048	10	0.72032	D	0.01	.	13.4745	0.61301	0.0:1.0:0.0:0.0	.	1413;1418	O94910-2;O94910	.;LPHN1_HUMAN	R	1418;1413	ENSP00000340688:G1418R;ENSP00000355328:G1413R	ENSP00000340688:G1418R	G	-	1	0	LPHN1	14122858	0.253000	0.23982	0.799000	0.32177	0.185000	0.23345	3.883000	0.56168	1.764000	0.52075	0.205000	0.17691	GGC			0.721	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000459696.1		NM_014921		G	14261858	C	G	14261858	3	3	26	1	0	0	0	0	1	0	0	0	8931	652	23	5	176	5	LPHN1	19	14261858	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	10285205	14261858	44867125	70	1772											
RPL18A	6142	mdanderson.org	37	chr19	17972941	17972941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcgggtgaagaacttcggGatctggctgcgctatgactc	7	10	14	10	3	1	3	0	2	1	1	3	4	1	4	0	3	3	2	0	3	3	2	rs78185444	byFrequency	TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr19:17972941G>A	ENST00000222247.5	+	3	318	c.237G>A	c.(235-237)ggG>ggA	p.G79G	RPL18A_ENST00000600147.1_Silent_p.G79G|SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599898.1_Silent_p.G40G|RPL18A_ENST00000599870.1_Silent_p.G50G	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	79					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						AGAACTTCGGGATCTGGCTGC	0.622													G|||	15	0.00299521	0.0106	0.0014	5008	,	,		17590	0		0	False		,,,				2504	0				p.G79G													.	.			0			c.G237A							G		47,4359	47.5+/-82.1	0,47,2156	48	51	50		237	-2.1	1	19	dbSNP_131	50	0,8600		0,0,4300	no	coding-synonymous	RPL18A	NM_000980.2		0,47,6456	AA,AG,GG		0.0,1.0667,0.3614		79/177	17972941	47,12959	2203	4300	6503	SO:0001819	synonymous_variant	6142	exon3			CTTCGGGATCTGG	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.237G>A	19.37:g.17972941G>A			46	0	0		50	0.06	3	NM_000980	7497	0	1		Silent	SNP	ENST00000222247.5	37	CCDS12367.1																																																																																			0.004		0.622	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466679.1		NM_000980		A	17972941	G	A	17972941	2	1	26	1	0	0	0	0	0	0	0	1	13588	1161	41	3		3	RPL18A	19	17972941	Silent	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	3711083	17972941	41156042	71	1773											
KLHL26	55295	mdanderson.org	37	chr19	18779075	18779075	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccttcaactaccaggtgCtgcccttccggcagcacgag	8	7	11	15	2	1	0	1	0	0	0	2	1	2	0	4	3	5	3	4	3	2	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr19:18779075C>T	ENST00000300976.4	+	3	958	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	290										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTACCAGGTGCTGCCCTTCCG	0.662																																					p.L290L													.	.			0			c.C868T												47	53	51					19																	18779075		2190	4278	6468	SO:0001819	synonymous_variant	55295	exon3			CAGGTGCTGCCCT		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.868C>T	19.37:g.18779075C>T			40	0	0		37	0.08	3	NM_018316	6	0	0	Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	CCDS12384.1																																																																																					0.662	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465145.1		NM_018316		T	18779075	C	T	18779075	2	4	26	1	0	0	0	0	0	0	0	1	8396	796	28	2		2	KLHL26	19	18779075	Silent	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	806134	18779075	40349908	72	1774											
MYH7B	57644	mdanderson.org	37	chr20	33585097	33585097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggaggcagagcgggCagcccgggcccgcgtggaga	7	2	21	11	4	0	2	0	0	0	2	0	5	0	4	2	6	3	3	2	6	0	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr20:33585097C>T	ENST00000262873.7	+	30	3619	c.3527C>T	c.(3526-3528)gCa>gTa	p.A1176V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1134						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)			GCAGAGCGGGCAGCCCGGGCC	0.741																																					p.A1176V													.	.			0			c.C3527T												5	6	6					20																	33585097		2087	4067	6154	SO:0001583	missense	57644	exon32			AGCGGGCAGCCCG	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.3527C>T	20.37:g.33585097C>T	ENSP00000262873:p.Ala1176Val		43	0	0		35	0.09	3	NM_020884	14	0	0	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	35	5.557862	0.96514	.	.	ENSG00000078814	ENST00000262873	T	0.79554	-1.28	4.6	4.6	0.57074	Myosin tail (1);	0.000000	0.37669	N	0.001989	D	0.87208	0.6120	M	0.69358	2.11	0.51482	D	0.999923	D	0.56746	0.977	P	0.59703	0.862	D	0.88888	0.3344	10	0.72032	D	0.01	.	17.6074	0.88042	0.0:1.0:0.0:0.0	.	1134	A7E2Y1	MYH7B_HUMAN	V	1176	ENSP00000262873:A1176V	ENSP00000262873:A1176V	A	+	2	0	MYH7B	33048758	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.646000	0.83445	2.387000	0.81309	0.462000	0.41574	GCA			0.741	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000078833.2		NM_020884		T	33585097	C	T	33585097	3	4	26	1	0	0	0	0	1	0	0	0	10056	710	25	2	3645	2	MYH7B	20	33585097	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10		33585097	29440423	73	1775											
SLC9A8	23315	broad.mit.edu	37	chr20	48479536	48479536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatttttacaagcccttGactacttcctcaaaatgttc	13	14	3	11	0	1	1	1	1	0	0	3	1	2	1	2	0	4	1	2	0	6	7			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr20:48479536G>T	ENST00000361573.2	+	9	826	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	SLC9A8_ENST00000539601.1_Missense_Mutation_p.D43Y|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000417961.1_Missense_Mutation_p.D278Y			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	262					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ACAAGCCCTTGACTACTTCCT	0.383																																					p.D278Y													.	SLC9A8	63		0			c.G832T												98	93	95					20																	48479536		2203	4300	6503	SO:0001583	missense	23315	exon9			GCCCTTGACTACT	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.784G>T	20.37:g.48479536G>T	ENSP00000354966:p.Asp262Tyr		129	0	0		171	0.03	5	NM_001260491	12	0	0	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169291	0.57584	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000539601	T;T;T	0.15139	2.45;2.45;2.45	5.32	5.32	0.75619	Cation/H+ exchanger (1);	0.273881	0.39909	N	0.001223	T	0.10594	0.0259	N	0.03608	-0.345	0.80722	D	1	B	0.19935	0.04	B	0.18263	0.021	T	0.20505	-1.0273	10	0.66056	D	0.02	.	19.0024	0.92839	0.0:0.0:1.0:0.0	.	262	Q9Y2E8	SL9A8_HUMAN	Y	278;262;43	ENSP00000416418:D278Y;ENSP00000354966:D262Y;ENSP00000441716:D43Y	ENSP00000354966:D262Y	D	+	1	0	SLC9A8	47912943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.454000	0.80714	2.462000	0.83206	0.655000	0.94253	GAC			0.383	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106483.3		XM_030524		T	48479536	G	T	48479536	3	4	26	1	0	0	0	0	1	0	0	0	14743	1290	45	3	818	3	SLC9A8	20	48479536	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10	14894439	48479536	14545984	74	1776											
C20orf151	140893	mdanderson.org	37	chr20	60987688	60987688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccagctgtacctttgtccCcaggctccgaggcccgcttc	4	10	10	17	2	0	0	0	0	0	0	3	1	2	0	6	2	3	4	6	2	1	3			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr20:60987688C>T	ENST00000252998.1	-	13	2024	c.1868G>A	c.(1867-1869)gGg>gAg	p.G623E		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	623						extracellular space (GO:0005615)											ACCTTTGTCCCCAGGCTCCGA	0.692																																					p.G623E													.	.			0			c.G1868A												68	72	71					20																	60987688		2203	4300	6503	SO:0001583	missense	140893	exon13			TTGTCCCCAGGCT	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1868G>A	20.37:g.60987688C>T	ENSP00000252998:p.Gly623Glu		42	0	0		37	0.08	3	NM_080833	0		0	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.488177	0.01018	.	.	ENSG00000130701	ENST00000252998	T	0.16073	2.37	3.52	-1.3	0.09259	.	1.909040	0.02494	N	0.089730	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.15952	T	0.53	0.02	4.1761	0.10353	0.0:0.5036:0.1753:0.3211	.	623	Q8NC74	CT151_HUMAN	E	623	ENSP00000252998:G623E	ENSP00000252998:G623E	G	-	2	0	C20orf151	60421083	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.712000	0.05013	-0.354000	0.08212	-0.658000	0.03865	GGG			0.692	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080029.1		NM_080833		T	60987688	C	T	60987688	3	4	26	1	0	0	0	0	1	0	0	0	2093	623	22	3	134	3	C20orf151	20	60987688	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	12508152	60987688	2037832	75	1777											
IFNAR1	3454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	34715721	34715721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatctggaaaaactcttcagGtgtagaagtaagcattattt	14	14	8	5	0	3	1	1	0	2	1	3	2	3	2	0	2	2	3	0	2	7	6			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr21:34715721G>A	ENST00000270139.3	+	4	676	c.524G>A	c.(523-525)gGt>gAt	p.G175D	IFNAR1_ENST00000442357.2_Missense_Mutation_p.G175D|IFNAR1_ENST00000416947.2_Missense_Mutation_p.G106D	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	175	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""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)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	AACTCTTCAGGTGTAGAAGTA	0.318																																					p.G175D	Esophageal Squamous(73;817 1211 32990 35667 42746)												.	.			0			c.G524A												124	132	129					21																	34715721		2203	4300	6503	SO:0001583	missense	3454	exon4			CTTCAGGTGTAGA		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.524G>A	21.37:g.34715721G>A	ENSP00000270139:p.Gly175Asp		92	0	0		108	0.27	29	NM_000629	75	0.21	16	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837882	0.32513	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.28069	1.63;1.63;1.63	5.86	0.91	0.19337	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.083630	0.06820	N	0.792114	T	0.09905	0.0243	N	0.03608	-0.345	0.09310	N	1	P	0.36483	0.555	B	0.24269	0.052	T	0.15954	-1.0419	10	0.13108	T	0.6	0.2848	5.4926	0.16785	0.3095:0.1332:0.5572:0.0	.	175	P17181	INAR1_HUMAN	D	106;175;175	ENSP00000395606:G106D;ENSP00000270139:G175D;ENSP00000407406:G175D	ENSP00000270139:G175D	G	+	2	0	IFNAR1	33637591	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-0.013000	0.12678	0.107000	0.17824	0.650000	0.86243	GGT			0.318	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000139823.4				A	34715721	G	A	34715721	3	1	26	1	0	0	0	0	1	0	0	0	7559	1261	44	3	538	3	IFNAR1	21	34715721	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		34715721	13414174	76	1778											
OSBP2	23762	mdanderson.org	37	chr22	31266595	31266595	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcctcaagatcccatctGagagtggggagaagctgaag	12	6	14	9	1	2	4	1	2	1	3	3	6	3	4	2	3	1	1	2	3	3	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr22:31266595G>T	ENST00000332585.6	+	3	1137	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.E87*|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.E345*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.E172*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.E345*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.E180*	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	345					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GATCCCATCTGAGAGTGGGGA	0.592																																					p.E345X													.	.			0			c.G1033T												53	61	59					22																	31266595		2131	4230	6361	SO:0001587	stop_gained	23762	exon3			CCATCTGAGAGTG		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1033G>T	22.37:g.31266595G>T	ENSP00000332576:p.Glu345*		59	0	0		72	0.06	4	NM_030758	2	0	0	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Nonsense_Mutation	SNP	ENST00000332585.6	37	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098042	0.76870	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000437268	.	.	.	4.64	4.64	0.57946	.	0.068540	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-35.7993	17.3175	0.87228	0.0:0.0:1.0:0.0	.	.	.	.	X	180;172;345;345;345;87	.	ENSP00000332576:E345X	E	+	1	0	OSBP2	29596595	1.000000	0.71417	0.055000	0.19348	0.907000	0.53573	9.366000	0.97143	2.419000	0.82065	0.655000	0.94253	GAG			0.592	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000321547.2		NM_030758		T	31266595	G	T	31266595	4	4	26	1	0	0	0	0	0	1	0	0	11291	1291	45	3	1043	3	OSBP2	22	31266595	Nonsense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		31266595	20037971	77	1779											
SFI1	9814	mdanderson.org	37	chr22	32009152	32009152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccaggaggcaggagcagCgggcgacagtgcgggccctg	8	2	19	12	3	0	0	0	0	0	0	0	3	0	2	2	5	4	2	2	5	0	0			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chr22:32009152C>T	ENST00000400288.2	+	25	2620	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	SFI1_ENST00000400289.1_Missense_Mutation_p.R757W|SFI1_ENST00000443011.1_Missense_Mutation_p.R686W|SFI1_ENST00000443326.1_Missense_Mutation_p.R757W|SFI1_ENST00000540643.1_Missense_Mutation_p.R784W|SFI1_ENST00000432498.1_Missense_Mutation_p.R808W|SFI1_ENST00000414585.1_Missense_Mutation_p.R686W	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	839					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						GCAGGAGCAGCGGGCGACAGT	0.632																																					p.R839W													.	.			0			c.C2515T												36	45	42					22																	32009152		2111	4255	6366	SO:0001583	missense	9814	exon25			GAGCAGCGGGCGA	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.2515C>T	22.37:g.32009152C>T	ENSP00000383145:p.Arg839Trp		28	0	0		33	0.09	3	NM_001007467	29	0	0	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028270	0.19512	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.15017	3.03;3.03;2.86;2.86;2.87;2.86;3.03;2.46	5.62	2.23	0.28157	.	0.644955	0.16732	N	0.201803	T	0.10423	0.0255	N	0.08118	0	0.22701	N	0.998835	B;D;B;B;D	0.64830	0.003;0.994;0.0;0.003;0.987	B;P;B;B;B	0.50049	0.001;0.629;0.001;0.001;0.401	T	0.12863	-1.0531	10	0.32370	T	0.25	.	5.34	0.15979	0.161:0.6653:0.0:0.1737	.	784;745;757;808;839	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	W	808;784;757;686;686;757;839;422	ENSP00000402679:R808W;ENSP00000443025:R784W;ENSP00000416469:R757W;ENSP00000397148:R686W;ENSP00000401199:R686W;ENSP00000383146:R757W;ENSP00000383145:R839W;ENSP00000398871:R422W	ENSP00000383145:R839W	R	+	1	2	SFI1	30339152	0.730000	0.28100	0.656000	0.29637	0.110000	0.19582	0.902000	0.28459	0.726000	0.32339	-0.222000	0.12452	CGG			0.632	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337180.3		NM_014775		T	32009152	C	T	32009152	3	4	26	1	0	0	0	0	1	0	0	0	14179	759	27	1	2609	1	SFI1	22	32009152	Missense_Mutation	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	742557	32009152	19295414	78	1780											
XG	7499	broad.mit.edu	37	chrX	2700164	2700164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccgagaatcccgacagcgGtggaagtaagaatccgcagg	12	4	14	11	4	0	2	0	0	0	2	2	5	2	3	3	3	1	2	3	3	4	1			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chrX:2700164G>A	ENST00000381174.5	+	4	410	c.185G>A	c.(184-186)gGt>gAt	p.G62D	XG_ENST00000426774.1_Missense_Mutation_p.G62D|XG_ENST00000419513.2_Missense_Mutation_p.G62D			P55808	XG_HUMAN	Xg blood group	62						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		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)				CCCGACAGCGGTGGAAGTAAG	0.428																																					p.G62D													.	XG	22		0			c.G185A												107	92	97					X																	2700164		2203	4299	6502	SO:0001583	missense	7499	exon4			ACAGCGGTGGAAG	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"Blood group antigens", "Pseudoautosomal regions / PAR1"	12806	protein-coding gene	gene with protein product		300879	"Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.185G>A	X.37:g.2700164G>A	ENSP00000370566:p.Gly62Asp		141	0	0		134	0.04	6	NM_001141920	2	0	0	E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926621	0.34002	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	1.16	1.16	0.20824	.	0.612043	0.13280	U	0.399836	T	0.19805	0.0476	L	0.55990	1.75	0.09310	N	1	P;D	0.56968	0.669;0.978	B;P	0.45406	0.199;0.479	T	0.11446	-1.0587	10	0.37606	T	0.19	.	5.4045	0.16314	0.0:0.0:1.0:0.0	.	62;62	P55808;P55808-3	XG_HUMAN;.	D	62;62;62;40	ENSP00000370566:G62D;ENSP00000411004:G62D;ENSP00000398503:G62D;ENSP00000430005:G40D	ENSP00000370566:G62D	G	+	2	0	XG	2710164	0.001000	0.12720	0.015000	0.15790	0.269000	0.26545	1.523000	0.35932	0.890000	0.36211	0.190000	0.17370	GGT			0.428	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000055633.2		NM_175569		A	2700164	G	A	2700164	3	1	26	1	0	0	0	0	1	0	0	0	17451	1261	44	3	199	3	XG	23	2700164	Missense_Mutation	SNP	G	TCGA-2G-AAGC-01A-21D-A42Y-10		2700164	152570396	79	1781											
RPGR	6103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	38146264	38146264	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagtgttctgctcctgaaCtaccttcctcacaggttcca	7	12	7	15	0	2	1	1	1	1	0	5	1	5	1	5	1	3	3	5	1	2	4			TCGA-2G-AAGC-01A-21D-A42Y-10	TCGA-2G-AAGC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a571cff-caa7-4b12-b014-4abe54978d35	2eeea093-efbd-4c6b-a84d-a56b07d5e9f8	g.chrX:38146264C>G	ENST00000339363.3	-	14	2688				RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.S663T|RPGR_ENST00000342811.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGCTCCTGAACTACCTTCCTC	0.527																																					p.S663T													.	.			0			c.G1988C												338	265	289					X																	38146264		2202	4300	6502	SO:0001627	intron_variant	6103	exon15			CCTGAACTACCTT	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+82G>C	X.37:g.38146264C>G			134	0	0		139	0.37	51	NM_001034853	0		0	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	c	5.285	0.238061	0.10023	.	.	ENSG00000156313	ENST00000378505	T	0.35789	1.29	3.0	-4.96	0.03038	.	3.583910	0.02236	U	0.065349	T	0.25754	0.0627	L	0.51422	1.61	0.09310	N	1	B	0.33494	0.414	B	0.27887	0.084	T	0.10222	-1.0639	10	0.36615	T	0.2	.	2.4884	0.04604	0.2843:0.4502:0.1404:0.125	.	663	E9PE28	.	T	663	ENSP00000367766:S663T	ENSP00000367766:S663T	S	-	2	0	RPGR	38031208	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-0.484000	0.06528	-0.967000	0.03582	0.353000	0.21931	AGT			0.527	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_000328		G	38146264	C	G	38146264	1	3	26	0	1	0	0	0	0	0	0	0	13571	565	20	5		5	RPGR	23	38146264	Intron	SNP	C	TCGA-2G-AAGC-01A-21D-A42Y-10	35446100	38146264	117124296	80	1782											
TTLL10	254173	mdanderson.org	37	chr1	1132855	1132855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccggaagagcctgcgcggCcagaagatgttgcctctgct	7	9	13	12	3	1	3	0	0	1	3	2	4	2	4	4	2	4	2	4	2	2	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:1132855C>T	ENST00000379290.1	+	16	1823	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	TTLL10_ENST00000379289.1_Silent_p.G550G			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	550	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCTGCGCGGCCAGAAGATGT	0.716																																					p.G550G													.	.			0			c.C1650T												1	1	1					1																	1132855		197	503	700	SO:0001819	synonymous_variant	254173	exon16			GCGCGGCCAGAAG	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1650C>T	1.37:g.1132855C>T			51	0	0		41	0.07	3	NM_001130045	0		0	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	ENST00000379290.1	37	CCDS44036.1																																																																																					0.716	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002421.3		NM_153254		T	1132855	C	T	1132855	2	4	27	1	0	0	0	0	0	0	0	1	16747	726	26	2		2	TTLL10	1	1132855	Silent	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10		1132855	248117766	1	1783											
PRAMEF4	400735	ucsc.edu	37	chr1	12939904	12939904	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagttagttattgtgaggaActttaacgaggtcttcagac	12	13	10	6	1	2	2	1	1	1	1	2	4	2	3	0	2	2	2	0	2	4	6	rs3895133		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:12939904A>C	ENST00000235349.5	-	4	968	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	300					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTGAGGAACTTTAACGAG	0.483																																					p.F300V													.	PRAMEF4	62		0			c.T898G												50	69	62					1																	12939904		1404	2644	4048	SO:0001583	missense	400735	exon4			TGAGGAACTTTAA		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.898T>G	1.37:g.12939904A>C	ENSP00000235349:p.Phe300Val		25	0.24	6		38	0.18	7	NM_001009611	6	0	0	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	t	1.416	-0.574302	0.03882	.	.	ENSG00000243073	ENST00000235349	T	0.38887	1.11	1.48	-2.96	0.05547	.	1.221790	0.05721	N	0.597800	T	0.18759	0.0450	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09207	-1.0685	10	0.37606	T	0.19	.	3.305	0.06997	0.5711:0.149:0.0:0.2799	.	300	O60810	PRAM4_HUMAN	V	300	ENSP00000235349:F300V	ENSP00000235349:F300V	F	-	1	0	PRAMEF4	12862491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.518000	0.02246	-3.281000	0.00197	-4.216000	0.00009	TTC			0.483	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005518.1		NM_001009611		C	12939904	A	C	12939904	3	2	27	1	0	0	0	0	1	0	0	0	12457	43	2	4	542	4	PRAMEF4	1	12939904	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	11807049	12939904	236310717	2	1784											
ASAP3	55616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	23763530	23763530	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggttggtgctgagccaCgtggggtctgcagaggaaag	8	7	17	9	1	1	2	0	1	1	1	1	3	1	3	2	5	3	3	2	5	1	1	rs565361291		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:23763530C>A	ENST00000336689.3	-	15	1394	c.1350G>T	c.(1348-1350)acG>acT	p.T450T	ASAP3_ENST00000495646.1_5'Flank|ASAP3_ENST00000437606.2_Silent_p.T441T	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	450	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGCTGAGCCACGTGGGGTCTG	0.682																																					p.T450T													.	.			0			c.G1350T												28	25	26					1																	23763530		2199	4297	6496	SO:0001819	synonymous_variant	55616	exon15			GAGCCACGTGGGG	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1350G>T	1.37:g.23763530C>A			69	0	0		98	0.27	26	NM_017707	27	0.48	13	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	CCDS235.1																																																																																					0.682	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008916.2		NM_017707		A	23763530	C	A	23763530	2	1	27	1	0	0	0	0	0	0	0	1	1012	523	19	1		1	ASAP3	1	23763530	Silent	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	10823626	23763530	225487091	3	1785											
RCC1	1104	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	28857097	28857097	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgccaaggtgcctgcgggCcgagccctcctgaccagaaa	8	5	12	16	2	0	2	0	1	0	1	1	3	1	2	7	2	4	0	7	2	2	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:28857097C>T	ENST00000373833.6	+	5	358				RCC1_ENST00000373832.1_Intron|RCC1_ENST00000373831.3_Missense_Mutation_p.P46S|RCC1_ENST00000398958.2_Intron			P18754	RCC1_HUMAN	regulator of chromosome condensation 1						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)		TGCCTGCGGGCCGAGCCCTCC	0.716																																					p.P46S													.	RCC1	61		0			c.C136T												11	14	13					1																	28857097		2026	4145	6171	SO:0001627	intron_variant	1104	exon3			TGCGGGCCGAGCC	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.73+646C>T	1.37:g.28857097C>T			22	0	0		25	0.2	5	NM_001048194	2	0	0	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	4.610	0.113298	0.08831	.	.	ENSG00000180198	ENST00000373831	T	0.53423	0.62	3.81	2.9	0.33743	.	1.260670	0.05604	N	0.576832	T	0.29976	0.0750	.	.	.	0.18873	N	0.999989	B	0.21520	0.057	B	0.32864	0.154	T	0.33420	-0.9869	9	0.07325	T	0.83	-0.0379	7.3875	0.26891	0.0:0.8815:0.0:0.1185	.	46	P18754-2	.	S	46	ENSP00000362937:P46S	ENSP00000362937:P46S	P	+	1	0	RCC1	28729684	0.459000	0.25768	0.013000	0.15412	0.015000	0.08874	3.018000	0.49625	1.201000	0.43203	-0.192000	0.12808	CCG			0.716	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010323.3		NM_001269		T	28857097	C	T	28857097	1	4	27	0	1	0	0	0	0	0	0	0	13196	739	26	2		2	RCC1	1	28857097	Intron	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	5093567	28857097	220393524	4	1786											
FAM73A	374986	broad.mit.edu	37	chr1	78245408	78245408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcaggccagctgtacctgGcctggagctccaggtacagg	7	6	16	12	0	0	0	0	0	0	0	1	1	1	1	4	6	4	5	4	6	2	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:78245408G>T	ENST00000370791.3	+	1	100	c.68G>T	c.(67-69)gGc>gTc	p.G23V	RNA5SP21_ENST00000410917.1_RNA|FAM73A_ENST00000443751.2_Missense_Mutation_p.G23V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	23						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GCTGTACCTGGCCTGGAGCTC	0.692																																					p.G23V													.	FAM73A	56		0			c.G68T												5	5	5					1																	78245408		2143	4182	6325	SO:0001583	missense	374986	exon1			TACCTGGCCTGGA		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.68G>T	1.37:g.78245408G>T	ENSP00000359827:p.Gly23Val		70	0.0142857143	1		80	0.11	9	NM_198549	9	0	0	Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897885	0.33535	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.39056	1.77;1.1	4.61	0.387	0.16259	.	0.980175	0.08281	N	0.969998	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B;B	0.18968	0.032;0.019;0.019	B;B;B	0.21917	0.037;0.017;0.017	T	0.39563	-0.9608	10	0.87932	D	0	8.6355	7.5628	0.27862	0.0968:0.5115:0.3917:0.0	.	23;23;23	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	23	ENSP00000359827:G23V;ENSP00000393675:G23V	ENSP00000359827:G23V	G	+	2	0	FAM73A	78017996	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.449000	0.21744	0.201000	0.20466	-0.172000	0.13284	GGC			0.692	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000026931.1		NM_198549		T	78245408	G	T	78245408	3	4	27	1	0	0	0	0	1	0	0	0	5630	1203	42	2	70	2	FAM73A	1	78245408	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	49388311	78245408	171005213	5	1787											
IGSF3	3321	mdanderson.org	37	chr1	117150780	117150780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcaaattcgctgttgaGgacaggcacagcgttaggac	11	8	14	8	2	0	2	0	2	0	0	1	4	0	4	0	3	2	5	0	3	2	3			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:117150780G>T	ENST00000369486.3	-	5	1771	c.1006C>A	c.(1006-1008)Ctc>Atc	p.L336I	IGSF3_ENST00000318837.6_Missense_Mutation_p.L336I|IGSF3_ENST00000369483.1_Missense_Mutation_p.L336I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	336	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCGCTGTTGAGGACAGGCACA	0.567																																					p.L336I													.	.			0			c.C1006A												33	32	32					1																	117150780		2202	4298	6500	SO:0001583	missense	3321	exon5			TGTTGAGGACAGG	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1006C>A	1.37:g.117150780G>T	ENSP00000358498:p.Leu336Ile		138	0	0		133	0.04	5	NM_001542	22	0	0	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706561	0.89018	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64991	-0.13;-0.13;-0.13	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.64034	0.2562	L	0.32530	0.975	0.58432	D	0.999999	P;D;P	0.89917	0.702;1.0;0.747	P;D;P	0.91635	0.699;0.999;0.801	T	0.67304	-0.5704	10	0.59425	D	0.04	-43.6551	15.4322	0.75108	0.0:0.0:1.0:0.0	.	336;336;336	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	I	336	ENSP00000358498:L336I;ENSP00000358495:L336I;ENSP00000321184:L336I	ENSP00000321184:L336I	L	-	1	0	IGSF3	116952303	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	6.911000	0.75746	2.571000	0.86741	0.557000	0.71058	CTC			0.567	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000059040.1		NM_001542		T	117150780	G	T	117150780	3	4	27	1	0	0	0	0	1	0	0	0	7616	1000	35	3	2670	3	IGSF3	1	117150780	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	38905372	117150780	132099841	6	1788											
GLT25D2	23127	broad.mit.edu	37	chr1	183933106	183933106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatggggcttcagggggAtgggcaggtagccatagtgc	7	9	18	7	0	2	1	1	1	1	0	2	2	2	2	1	6	2	3	1	6	2	3			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:183933106A>G	ENST00000361927.4	-	6	1252	c.881T>C	c.(880-882)aTc>aCc	p.I294T	COLGALT2_ENST00000546159.1_Missense_Mutation_p.I294T|COLGALT2_ENST00000367520.3_Missense_Mutation_p.I31T	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	294					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CTTCAGGGGGATGGGCAGGTA	0.527																																					p.I294T													.	.			0			c.T881C												154	121	132					1																	183933106		2203	4300	6503	SO:0001583	missense	23127	exon6			AGGGGGATGGGCA	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.881T>C	1.37:g.183933106A>G	ENSP00000354960:p.Ile294Thr		143	0	0		183	0.03	5	NM_015101	2	0	0	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464178	0.63513	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367520	T;T	0.25912	1.77;1.77	5.74	5.74	0.90152	.	0.224837	0.44688	D	0.000438	T	0.12902	0.0313	N	0.02539	-0.55	0.45704	D	0.998619	P;B;B	0.38195	0.622;0.227;0.142	B;B;B	0.36092	0.217;0.101;0.028	T	0.23511	-1.0186	10	0.52906	T	0.07	.	16.0202	0.80478	1.0:0.0:0.0:0.0	.	294;294;31	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	T	294;294;31	ENSP00000439112:I294T;ENSP00000354960:I294T	ENSP00000354960:I294T	I	-	2	0	GLT25D2	182199729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.952000	0.93031	2.182000	0.69389	0.533000	0.62120	ATC			0.527	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086128.1		NM_015101		G	183933106	A	G	183933106	3	3	27	1	0	0	0	0	1	0	0	0	6481	333	12	4	1027	4	GLT25D2	1	183933106	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	66782326	183933106	65317515	7	1789											
TRIM67	440730	mdanderson.org	37	chr1	231299311	231299311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggggccgtgccggggaCgtctgcagccgcggcggtgg	2	4	21	14	8	1	0	0	0	1	0	1	1	1	1	4	7	3	1	4	7	0	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:231299311C>A	ENST00000366653.5	+	1	596	c.596C>A	c.(595-597)aCg>aAg	p.T199K	TRIM67_ENST00000444294.3_Missense_Mutation_p.T199K|TRIM67_ENST00000449018.3_Missense_Mutation_p.T159K|TRIM67_ENST00000366652.2_Missense_Mutation_p.T199K			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	199					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)				GTGCCGGGGACGTCTGCAGCC	0.731																																					p.T199K													.	.			0			c.C596A												3	5	4					1																	231299311		1557	3073	4630	SO:0001583	missense	440730	exon1			CGGGGACGTCTGC	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.596C>A	1.37:g.231299311C>A	ENSP00000355613:p.Thr199Lys		10	0	0		23	0.13	3	NM_001004342	0		0	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.030888	0.02045	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.70516	-0.49;-0.4;-0.36;-0.49	4.2	4.2	0.49525	.	0.247549	0.30383	N	0.009746	T	0.44664	0.1304	N	0.04297	-0.235	0.24165	N	0.995648	B	0.06786	0.001	B	0.01281	0.0	T	0.08764	-1.0706	10	0.06891	T	0.86	.	14.066	0.64828	0.0:1.0:0.0:0.0	.	199	Q6ZTA4	TRI67_HUMAN	K	199;199;159;199	ENSP00000412124:T199K;ENSP00000355612:T199K;ENSP00000400163:T159K;ENSP00000355613:T199K	ENSP00000355612:T199K	T	+	2	0	TRIM67	229365934	0.961000	0.32948	0.908000	0.35775	0.109000	0.19521	2.229000	0.42990	2.163000	0.67991	0.313000	0.20887	ACG			0.731	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092649.3		NM_001004342		A	231299311	C	A	231299311	3	1	27	1	0	0	0	0	1	0	0	0	16564	536	19	1	598	1	TRIM67	1	231299311	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	47366205	231299311	17951310	8	1790											
IRF2BP2	359948	mdanderson.org	37	chr1	234745193	234745193	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggcaggtcacacaggtaGcacgactgccgccgggacgc	8	3	16	14	5	1	0	1	0	0	0	1	2	1	1	2	5	2	3	2	5	1	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:234745193G>T	ENST00000366609.3	-	1	78	c.48C>A	c.(46-48)tgC>tgA	p.C16*	IRF2BP2_ENST00000491430.1_5'Flank|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.C16*	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CACACAGGTAGCACGACTGCC	0.746																																					p.C16X													.	.			0			c.C48A												8	8	8					1																	234745193		2127	4192	6319	SO:0001587	stop_gained	359948	exon1			CAGGTAGCACGAC	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.48C>A	1.37:g.234745193G>T	ENSP00000355568:p.Cys16*		40	0	0		41	0.07	3	NM_182972	28	0	0	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Nonsense_Mutation	SNP	ENST00000366609.3	37	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556858	0.27827	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	.	.	.	2.65	1.54	0.23209	.	0.123889	0.56097	U	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6692	0.17713	0.3204:0.0:0.6796:0.0	.	.	.	.	X	16	.	ENSP00000355568:C16X	C	-	3	2	IRF2BP2	232811816	.	.	0.950000	0.38849	0.034000	0.12701	.	.	1.300000	0.44818	0.435000	0.28638	TGC			0.746	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000092705.1		NM_182972		T	234745193	G	T	234745193	4	4	27	1	0	0	0	0	0	1	0	0	7845	963	34	2	1723	2	IRF2BP2	1	234745193	Nonsense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	3445882	234745193	14505428	9	1791											
ZNF496	84838	broad.mit.edu	37	chr1	247492680	247492680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggccgcagccagcccccGcacaggtcccagaggcgctg	7	3	13	18	3	1	1	1	0	0	1	2	1	2	1	5	3	2	3	5	3	0	0	rs140768491		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:247492680G>A	ENST00000294753.4	-	3	665	c.201C>T	c.(199-201)tgC>tgT	p.C67C	ZNF496_ENST00000366498.2_Silent_p.C67C	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	67	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCCAGCCCCCGCACAGGTCCC	0.697													G|||	1	0.000199681	8e-04	0	5008	,	,		13156	0		0	False		,,,				2504	0				p.C67C													.	ZNF496	80		0			c.C201T							G		0,4400		0,0,2200	18	23	21		201	2.4	1	1	dbSNP_134	21	2,8586		0,2,4292	no	coding-synonymous	ZNF496	NM_032752.1		0,2,6492	AA,AG,GG		0.0233,0.0,0.0154		67/588	247492680	2,12986	2200	4294	6494	SO:0001819	synonymous_variant	84838	exon3			GCCCCCGCACAGG	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.201C>T	1.37:g.247492680G>A			101	0.0099009901	1		134	0.03	4	NM_032752	31	0	0	Q8TBS2	Silent	SNP	ENST00000294753.4	37	CCDS1631.1																																																																																					0.697	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098655.2		NM_032752		A	247492680	G	A	247492680	2	1	27	1	0	0	0	0	0	0	0	1	17968	1079	38	1		1	ZNF496	1	247492680	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	12747487	247492680	1757941	10	1792											
COX7A2L	9167	broad.mit.edu	37	chr2	42578366	42578366	+	Frame_Shift_Del	DEL	T	T	-																															tctgcagcctaactcatttgTttttgggctgcgaagccatg																										TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr2:42578366delT	ENST00000378669.1	-	4	1167	c.338delA	c.(337-339)aacfs	p.N113fs	COX7A2L_ENST00000234301.2_Frame_Shift_Del_p.N113fs|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	113					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						AACTCATTTGTTTTTGGGCTG	0.448																																					p.N113fs													.	COX7A2L	8		0			c.338delA												63	55	57					2																	42578366		2203	4300	6503	SO:0001589	frameshift_variant	9167	exon3			CATTTGTTTTTGG	AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.338delA	2.37:g.42578366delT	ENSP00000367938:p.Asn113fs		409	0	0		558	0.01	7	NM_004718	315	0	0	Q9P118	Frame_Shift_Del	DEL	ENST00000378669.1	37	CCDS1808.1																																																																																					0.448	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250466.3		NM_004718		-	42578366	T	-	42578366	7	5	27	1	0	1	0	1	0	0	0	0	3783	1725	60	0	10	0	COX7A2L	2	42578366	Frame_Shift_Del	DEL	T	TCGA-2G-AAGE-01A-21D-A42Y-10		42578366	200621007	11	1793											
EIF5B	9669	broad.mit.edu	37	chr2	99977964	99977965	+	Frame_Shift_Ins	INS	-	-	A																															tgcaatctagaaaaggacagINSaaaaaaaatcagaaaaacaa																										TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr2:99977964_99977965insA	ENST00000289371.6	+	4	802_803	c.600_601insA	c.(601-603)aaafs	p.K201fs		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	201					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAAGGACAGAAAAAAAATCA	0.356																																					p.Q200fs	Colon(162;2388 2567 2705 3444)												.	EIF5B	95		0			c.600_601insA																																									SO:0001589	frameshift_variant	9669	exon4			AGGACAGAAAAAA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.608dupA	2.37:g.99977972_99977972dupA	ENSP00000289371:p.Lys201fs		196	0	0		307	0	0	NM_015904	108	0	0	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Frame_Shift_Ins	INS	ENST00000289371.6	37	CCDS42721.1																																																																																					0.356	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330364.2		NM_015904		A	99977965	-	A	99977964	7	5	27	1	0	1	1	0	0	0	0	0	5051	933	33	0	614	0	EIF5B	2	99977964	Frame_Shift_Ins	INS	-	TCGA-2G-AAGE-01A-21D-A42Y-10	57399598	99977964	143221409	12	1794											
WDR52	55779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	113098310	113098310	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctccatcttctcccAtctctgctgctagcttgttc	3	19	4	15	0	4	0	0	0	4	0	8	0	4	0	2	0	3	4	2	0	1	6			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr3:113098310A>T	ENST00000295868.2	-	17	2303	c.2141T>A	c.(2140-2142)aTg>aAg	p.M714K	WDR52_ENST00000475568.1_5'Flank|WDR52_ENST00000393845.2_Missense_Mutation_p.M714K	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						ATCTTCTCCCATCTCTGCTGC	0.403																																					p.M714K													WDR52,NS,carcinoma,+1,1	WDR52	1	1	0			c.T2141A												130	127	128					3																	113098310		2203	4300	6503	SO:0001583	missense	55779	exon17			TCTCCCATCTCTG																												ENST00000295868.2:c.2141T>A	3.37:g.113098310A>T	ENSP00000295868:p.Met714Lys		153	0	0		174	0.42	73	NM_001164496	0		0		Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.794207	0.00617	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.40225	2.95;1.04	5.42	0.119	0.14685	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.27098	0.0664	L	0.45581	1.43	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.36359	-0.9751	9	0.02654	T	1	.	6.3789	0.21523	0.2834:0.3589:0.0:0.3577	.	714	Q96MT7	WDR52_HUMAN	K	714	ENSP00000377428:M714K;ENSP00000295868:M714K	ENSP00000295868:M714K	M	-	2	0	WDR52	114581000	0.000000	0.05858	0.118000	0.21660	0.254000	0.26022	-0.088000	0.11198	-0.107000	0.12088	-0.490000	0.04691	ATG			0.403	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000354128.3				T	113098310	A	T	113098310	3	4	27	1	0	0	0	0	1	0	0	0	17328	217	8	5	3514	5	WDR52	3	113098310	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10		113098310	84924120	13	1795											
CNBP	7555	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	128889947	128889948	+	Frame_Shift_Ins	INS	-	-	T																															cacttcactttggtgcagtcINStttttgaatgtgtccgaatt																										TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr3:128889947_128889948insT	ENST00000422453.2	-	4	550_551	c.390_391insA	c.(388-393)aaagacfs	p.D131fs	CNBP_ENST00000500450.2_Frame_Shift_Ins_p.D114fs|CNBP_ENST00000451728.2_Frame_Shift_Ins_p.D132fs|CNBP_ENST00000441626.2_Frame_Shift_Ins_p.D133fs|CNBP_ENST00000502976.1_Frame_Shift_Ins_p.D124fs|CNBP_ENST00000504813.1_Frame_Shift_Ins_p.D121fs|CNBP_ENST00000446936.2_Frame_Shift_Ins_p.D126fs	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	131					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TTGGTGCAGTCTTTTTGAATGT	0.431																																					p.D133fs													.	CNBP	12		0			c.397_398insA																																									SO:0001589	frameshift_variant	7555	exon4			TGCAGTCTTTTTG	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCHC domain containing"	13164	protein-coding gene	gene with protein product		116955	"zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)", "zinc finger protein 9"	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.391dupA	3.37:g.128889952_128889952dupT	ENSP00000410619:p.Asp131fs		43	0	0		51	0.39	20	NM_001127192	807	0	0	A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Frame_Shift_Ins	INS	ENST00000422453.2	37	CCDS3056.1																																																																																					0.431	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000358419.1		NM_003418		T	128889948	-	T	128889947	7	5	27	1	0	1	1	0	0	0	0	0	3594	913	32	0	150	0	CNBP	3	128889947	Frame_Shift_Ins	INS	-	TCGA-2G-AAGE-01A-21D-A42Y-10	15791637	128889947	69132483	14	1796											
STX18	53407	mdanderson.org	37	chr4	4421779	4421779	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctagctgtcgtaccagtcGaggaagagcaaggagaagga	13	5	16	7	2	0	2	0	0	0	2	2	6	0	4	1	4	3	4	1	4	5	2	rs527318916		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr4:4421779G>T	ENST00000306200.2	-	11	1053	c.990C>A	c.(988-990)ctC>ctA	p.L330L	STX18_ENST00000505286.1_Intron	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	330					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CGTACCAGTCGAGGAAGAGCA	0.592																																					p.L330L													.	.			0			c.C990A												65	54	58					4																	4421779		2203	4300	6503	SO:0001819	synonymous_variant	53407	exon11			CCAGTCGAGGAAG	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.990C>A	4.37:g.4421779G>T			83	0	0		51	0.06	3	NM_016930	84	0	0	Q596L3|Q5TZP5	Silent	SNP	ENST00000306200.2	37	CCDS3377.1																																																																																					0.592	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206696.1				T	4421779	G	T	4421779	2	4	27	1	0	0	0	0	0	0	0	1	15364	1045	37	1		1	STX18	4	4421779	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		4421779	186732497	15	1797											
TBC1D9	23158	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	141545359	141545359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattacgattttcttgggAatttgctctcttccctacaa	10	17	5	9	1	2	0	0	0	2	0	4	2	3	1	1	1	3	1	1	1	5	8			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr4:141545359A>T	ENST00000442267.2	-	20	3063	c.2989T>A	c.(2989-2991)Tcc>Acc	p.S997T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	997							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)				TTTTCTTGGGAATTTGCTCTC	0.348																																					p.S997T													.	.			0			c.T2989A												134	117	122					4																	141545359		1823	4083	5906	SO:0001583	missense	23158	exon20			CTTGGGAATTTGC	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.2989T>A	4.37:g.141545359A>T	ENSP00000411197:p.Ser997Thr		168	0	0		166	0.05	8	NM_015130	9	0	0	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	A	8.816	0.936307	0.18206	.	.	ENSG00000109436	ENST00000442267	T	0.08634	3.07	5.84	4.64	0.57946	.	0.175459	0.49916	D	0.000139	T	0.05364	0.0142	N	0.21194	0.64	0.45502	D	0.998464	B	0.02656	0.0	B	0.09377	0.004	T	0.35574	-0.9783	10	0.13108	T	0.6	-5.2606	8.3434	0.32258	0.7303:0.1381:0.0:0.1317	.	997	Q6ZT07	TBCD9_HUMAN	T	997	ENSP00000411197:S997T	ENSP00000411197:S997T	S	-	1	0	TBC1D9	141764809	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.168000	0.58216	1.012000	0.39366	0.528000	0.53228	TCC			0.348	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364806.1		NM_015130		T	141545359	A	T	141545359	3	4	27	1	0	0	0	0	1	0	0	0	15650	246	9	5	819	5	TBC1D9	4	141545359	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	137123580	141545359	49608917	16	1798											
ARL15	54622	mdanderson.org	37	chr5	53182448	53182448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattaatcagctgagagaaGctgtctttcagtgcatccat	13	12	8	8	0	3	2	2	1	1	1	4	3	4	2	1	0	3	3	1	0	3	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr5:53182448G>T	ENST00000504924.1	-	5	651	c.558C>A	c.(556-558)agC>agA	p.S186R	ARL15_ENST00000502271.1_Missense_Mutation_p.S7R|ARL15_ENST00000510591.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	186					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GCTGAGAGAAGCTGTCTTTCA	0.403																																					p.S186R													.	.			0			c.C558A												56	51	52					5																	53182448		1866	4119	5985	SO:0001583	missense	54622	exon5			AGAGAAGCTGTCT	BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25945	protein-coding gene	gene with protein product			"ADP-ribosylation factor related protein 2"	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.558C>A	5.37:g.53182448G>T	ENSP00000433427:p.Ser186Arg		83	0	0		98	0.05	5	NM_019087	9	0	0	Q6IAD0	Missense_Mutation	SNP	ENST00000504924.1	37	CCDS54850.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012979	0.93346	.	.	ENSG00000185305	ENST00000504924	T	0.69806	-0.43	5.89	5.89	0.94794	.	.	.	.	.	T	0.79203	0.4406	M	0.78456	2.415	0.80722	D	1	P	0.48998	0.918	P	0.52386	0.697	T	0.80888	-0.1181	9	0.87932	D	0	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	186	Q9NXU5	ARL15_HUMAN	R	186	ENSP00000433427:S186R	ENSP00000433427:S186R	S	-	3	2	ARL15	53218205	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.085000	0.64468	2.797000	0.96272	0.563000	0.77884	AGC			0.403	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368432.2		NM_019087		T	53182448	G	T	53182448	3	4	27	1	0	0	0	0	1	0	0	0	931	962	34	2	60	2	ARL15	5	53182448	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		53182448	127732812	17	1799											
PCDHA1	56147	mdanderson.org	37	chr5	140167609	140167609	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactattggtgcagtcagTgagctggtgccgcgattggt	6	11	16	8	2	1	1	1	1	0	0	1	2	1	1	1	4	3	3	1	4	1	3			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr5:140167609T>C	ENST00000504120.2	+	1	1734	c.1734T>C	c.(1732-1734)agT>agC	p.S578S	PCDHA1_ENST00000378133.3_Silent_p.S578S|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	578					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)			GTGCAGTCAGTGAGCTGGTGC	0.652																																					p.S578S													.	.			0			c.T1734C												100	93	95					5																	140167609		2203	4299	6502	SO:0001819	synonymous_variant	56147	exon1			AGTCAGTGAGCTG	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.1734T>C	5.37:g.140167609T>C			44	0	0		47	0.06	3	NM_018900	1	0	0	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																					0.652	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000389127.1		NM_018900		C	140167609	T	C	140167609	2	2	27	1	0	0	0	0	0	0	0	1	11536	1693	59	4		4	PCDHA1	5	140167609	Silent	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	86985161	140167609	40747651	18	1800											
ADAMTS2	9509	mdanderson.org	37	chr5	178567021	178567021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcagccagatgcagtGtcctttaaaacaatgctgaa	13	10	10	8	0	1	2	1	1	0	1	2	2	2	2	2	1	4	2	2	1	4	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr5:178567021G>T	ENST00000251582.7	-	11	1746	c.1645C>A	c.(1645-1647)Cac>Aac	p.H549N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	549	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)		CAGATGCAGTGTCCTTTAAAA	0.607																																					p.H549N													.	.			0			c.C1645A												147	155	152					5																	178567021		2203	4300	6503	SO:0001583	missense	9509	exon11			TGCAGTGTCCTTT	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.1645C>A	5.37:g.178567021G>T	ENSP00000251582:p.His549Asn		61	0	0		41	0.07	3	NM_014244	5	0	0		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730063	0.69074	.	.	ENSG00000087116	ENST00000251582	T	0.59364	0.27	4.92	4.92	0.64577	.	0.000000	0.56097	D	0.000027	T	0.70666	0.3250	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.73588	-0.3935	10	0.66056	D	0.02	.	17.1242	0.86710	0.0:0.0:1.0:0.0	.	549	O95450	ATS2_HUMAN	N	549	ENSP00000251582:H549N	ENSP00000251582:H549N	H	-	1	0	ADAMTS2	178499627	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.372000	0.79612	2.281000	0.76405	0.561000	0.74099	CAC			0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253507.1		NM_014244		T	178567021	G	T	178567021	3	4	27	1	0	0	0	0	1	0	0	0	265	1377	48	3	2038	3	ADAMTS2	5	178567021	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	38399412	178567021	2348239	19	1801											
E2F3	1871	mdanderson.org	37	chr6	20402610	20402610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcgccgccgccgccgcCgctgccgccgccccgggcgc	0	3	15	23	10	0	0	0	0	0	0	1	0	0	0	9	2	1	2	9	2	0	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	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																																					p.A49A													.	.			0			c.C147T												14	21	18					6																	20402610		2127	4171	6298	SO:0001819	synonymous_variant	1871	exon1			CGCCGCCGCTGCC	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			30	0.0333333333	1		27	0.07	2	NM_001949	0		0	Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	CCDS4545.1																																																																																					0.741	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000043828.1				T	20402610	C	T	20402610	2	4	27	1	0	0	0	0	0	0	0	1	4873	639	23	1		1	E2F3	6	20402610	Silent	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10		20402610	150712457	20	1802											
TMEM63B	55362	broad.mit.edu;mdanderson.org	37	chr6	44107208	44107208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtatggctgcagggatGatgagatccgggacaaatgt	11	8	14	8	2	0	2	0	2	0	1	1	5	1	4	2	3	1	3	2	3	2	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:44107208G>T	ENST00000259746.9	+	7	595	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Missense_Mutation_p.D138Y			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	138					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)			CTGCAGGGATGATGAGATCCG	0.602																																					p.D138Y													.	TMEM63B	77		0			c.G412T												110	97	101					6																	44107208		2203	4300	6503	SO:0001583	missense	55362	exon7			AGGGATGATGAGA	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.412G>T	6.37:g.44107208G>T	ENSP00000259746:p.Asp138Tyr		116	0	0		129	0.04	5	NM_018426	35	0	0	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.96|12.96	2.093151|2.093151	0.36952|0.36952	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267|ENST00000371893	T;T;T|.	0.47869|.	0.83;0.83;0.83|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.159178|.	0.53938|.	D|.	0.000056|.	T|T	0.61185|0.61185	0.2327|0.2327	L|L	0.55213|0.55213	1.73|1.73	0.47476|0.47476	D|D	0.99943|0.99943	P;P;P|.	0.44877|.	0.481;0.845;0.755|.	P;P;P|.	0.52514|.	0.473;0.701;0.465|.	T|T	0.60182|0.60182	-0.7313|-0.7313	10|5	0.72032|.	D|.	0.01|.	.|.	16.4147|16.4147	0.83730|0.83730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138;138;138|.	Q5T3F8-3;Q5T3F8;Q5T3F8-2|.	.;TM63B_HUMAN;.|.	Y|I	138|66	ENSP00000259746:D138Y;ENSP00000437163:D138Y;ENSP00000327154:D138Y|.	ENSP00000259746:D138Y|.	D|M	+|+	1|3	0|0	TMEM63B|TMEM63B	44215186|44215186	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.213000|0.213000	0.24496|0.24496	9.583000|9.583000	0.98217|0.98217	2.356000|2.356000	0.79943|0.79943	0.561000|0.561000	0.74099|0.74099	GAT|ATG			0.602	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040712.2		XM_166410		T	44107208	G	T	44107208	3	4	27	1	0	0	0	0	1	0	0	0	16214	1290	45	3	434	3	TMEM63B	6	44107208	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	23704598	44107208	127007859	21	1803											
MAP3K7	6885	mdanderson.org	37	chr6	91278326	91278326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatattaggatggttcacaCgggataactgccgaagctgt	12	10	11	8	2	1	0	1	0	0	0	1	3	1	2	1	3	3	2	1	3	5	4			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:91278326C>T	ENST00000369329.3	-	3	409	c.248G>A	c.(247-249)cGt>cAt	p.R83H	MAP3K7_ENST00000369332.3_Missense_Mutation_p.R83H|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R83H|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R83H	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	83	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGGTTCACACGGGATAACTG	0.348																																					p.R83H													MAP3K7_ENST00000369329,caecum,carcinoma,-1,5	MAP3K7_ENST00000369329	-1	5	0			c.G248A												89	84	86					6																	91278326		2203	4300	6503	SO:0001583	missense	6885	exon3			TTCACACGGGATA	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.248G>A	6.37:g.91278326C>T	ENSP00000358335:p.Arg83His		49	0	0		64	0.06	4	NM_145333	30	0	0	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337617	0.95758	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88347	0.6412	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.76575	0.97;0.955;0.988;0.965	D	0.87653	0.2529	10	0.66056	D	0.02	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	83;83;83;83	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	H	83	ENSP00000358338:R83H;ENSP00000358335:R83H;ENSP00000358331:R83H;ENSP00000358333:R83H	ENSP00000358331:R83H	R	-	2	0	MAP3K7	91335047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.624000	0.83124	2.894000	0.99253	0.655000	0.94253	CGT			0.348	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041530.1		NM_145331		T	91278326	C	T	91278326	3	4	27	1	0	0	0	0	1	0	0	0	9271	536	19	1	1632	1	MAP3K7	6	91278326	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	47171118	91278326	79836741	22	1804											
NCOA7	135112	broad.mit.edu	37	chr6	126210954	126210954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agataagacctgggtgaaaaAgggagagcccctcccggtaa	14	5	13	9	1	0	4	0	1	0	3	1	5	1	4	4	3	1	1	4	3	4	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:126210954A>G	ENST00000368357.3	+	10	2106	c.1754A>G	c.(1753-1755)aAg>aGg	p.K585R	NCOA7_ENST00000392477.2_Missense_Mutation_p.K585R|NCOA7_ENST00000229634.9_Missense_Mutation_p.K470R	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	585					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TGGGTGAAAAAGGGAGAGCCC	0.473																																					p.K585R													.	NCOA7	92		0			c.A1754G												53	58	56					6																	126210954		2203	4300	6503	SO:0001583	missense	135112	exon10			TGAAAAAGGGAGA	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1754A>G	6.37:g.126210954A>G	ENSP00000357341:p.Lys585Arg		118	0	0		108	0.04	4	NM_001199619	6	0	0	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	A	0.134	-1.110388	0.01813	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.84	3.68	0.42216	.	0.718750	0.13361	N	0.393673	T	0.03871	0.0109	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.44019	-0.9355	10	0.15066	T	0.55	-4.6629	8.3873	0.32508	0.8166:0.0:0.1834:0.0	.	574;574;585	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	R	585;585;470;383	ENSP00000357341:K585R;ENSP00000376269:K585R;ENSP00000229634:K470R;ENSP00000389186:K383R	ENSP00000229634:K470R	K	+	2	0	NCOA7	126252647	0.144000	0.22641	0.145000	0.22337	0.069000	0.16628	0.925000	0.28791	0.965000	0.38133	0.533000	0.62120	AAG			0.473	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000042083.4		XM_059748		G	126210954	A	G	126210954	3	3	27	1	0	0	0	0	1	0	0	0	10251	72	3	4	1784	4	NCOA7	6	126210954	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	34932628	126210954	44904113	23	1805											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcatggcttacggatcccTttttcacttgccccctgcca	6	14	6	15	1	2	0	2	0	0	0	3	1	3	1	4	2	3	1	4	2	2	5			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_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																																					p.K141R													REPS1,right_lower_lobe,carcinoma,0,1	REPS1	58	1	0			c.A422G												196	180	186					6																	139266690		2203	4300	6503	SO:0001583	missense	85021	exon3			GATCCCTTTTTCA		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		181	0	0		204	0.02	5	NM_001128617	58	0	0	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37		.	.	.	.	.	.	.	.	.	.	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				C	139266690	T	C	139266690	3	2	27	1	0	0	0	0	1	0	0	0	13251	1609	56	4	2040	4	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	13055736	139266690	31848377	24	1806											
SYNJ2	8871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	158449830	158449830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttggtgacaggctgcaCatctgtgggcagaattccag	8	10	15	8	0	1	2	0	1	1	1	2	2	2	2	1	4	1	4	1	4	1	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:158449830C>T	ENST00000355585.4	+	3	332	c.257C>T	c.(256-258)aCa>aTa	p.T86I	SYNJ2_ENST00000367121.3_Missense_Mutation_p.T86I|SYNJ2_ENST00000367122.2_Missense_Mutation_p.T86I|SYNJ2_ENST00000449859.2_Missense_Mutation_p.T35I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	86					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)		ACAGGCTGCACATCTGTGGGC	0.552																																					p.T86I													.	.			0			c.C257T												78	82	80					6																	158449830		2203	4300	6503	SO:0001583	missense	8871	exon3			GCTGCACATCTGT	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	ENST00000355585.4:c.257C>T	6.37:g.158449830C>T	ENSP00000347792:p.Thr86Ile		115	0	0		119	0.11	13	NM_003898	8	0.13	1	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.150110|2.150110	0.37923|0.37923	.|.	.|.	ENSG00000078269|ENSG00000078269	ENST00000367113|ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449320;ENST00000449859	.|T;T;T;T;T	.|0.58210	.|0.35;0.35;0.35;0.35;0.35	4.77|4.77	2.94|2.94	0.34122|0.34122	.|Synaptojanin, N-terminal (1);	.|0.353943	.|0.24012	.|N	.|0.042367	T|T	0.30166|0.30166	0.0756|0.0756	L|L	0.39633|0.39633	1.23|1.23	0.23620|0.23620	N|N	0.997275|0.997275	.|B;B;P;P	.|0.38223	.|0.437;0.009;0.623;0.57	.|B;B;P;B	.|0.46026	.|0.342;0.044;0.501;0.261	T|T	0.49707|0.49707	-0.8911|-0.8911	5|10	.|0.40728	.|T	.|0.16	.|.	11.5775|11.5775	0.50873|0.50873	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|35;86;86;86	.|B4DJU8;E7ER60;O15056;O15056-3	.|.;.;SYNJ2_HUMAN;.	Y|I	61|86;86;86;35;35	.|ENSP00000356089:T86I;ENSP00000356088:T86I;ENSP00000347792:T86I;ENSP00000411202:T35I;ENSP00000388371:T35I	.|ENSP00000347792:T86I	H|T	+|+	1|2	0|0	SYNJ2|SYNJ2	158369818|158369818	0.934000|0.934000	0.31675|0.31675	0.044000|0.044000	0.18714|0.18714	0.994000|0.994000	0.84299|0.84299	1.796000|1.796000	0.38794|0.38794	-1.897000|-1.897000	0.01101|0.01101	-0.290000|-0.290000	0.09829|0.09829	CAT|ACA			0.552	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042858.2				T	158449830	C	T	158449830	3	4	27	1	0	0	0	0	1	0	0	0	15476	478	17	3	267	3	SYNJ2	6	158449830	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	19183140	158449830	12665237	25	1807											
TCP1	6950	broad.mit.edu	37	chr6	160210470	160210470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtttccccagtgctgcGgtcaccgaacacggacaaag	10	7	11	13	4	1	0	1	0	0	0	3	3	2	1	3	2	3	2	3	2	2	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:160210470G>T	ENST00000321394.7	-	1	311	c.31C>A	c.(31-33)Cgc>Agc	p.R11S	TCP1_ENST00000420894.2_Missense_Mutation_p.R11S|TCP1_ENST00000392168.2_5'UTR|MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000544255.1_5'UTR|TCP1_ENST00000546023.1_5'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	11					'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)		CCAGTGCTGCGGTCACCGAAC	0.677																																					p.R11S													.	TCP1	37		0			c.C31A												50	46	48					6																	160210470		2203	4300	6503	SO:0001583	missense	6950	exon1			TGCTGCGGTCACC	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.31C>A	6.37:g.160210470G>T	ENSP00000317334:p.Arg11Ser		263	0	0		305	0.02	6	NM_030752	504	0	0	E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	31	5.104252	0.94245	.	.	ENSG00000120438	ENST00000321394;ENST00000420894;ENST00000539756	T;D;T	0.90261	2.73;-2.64;1.74	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	M	0.83774	2.66	0.80722	D	1	P;P	0.49090	0.919;0.592	P;B	0.55667	0.781;0.408	D	0.93166	0.6562	10	0.46703	T	0.11	-6.8999	18.2465	0.89988	0.0:0.0:1.0:0.0	.	11;11	E7ERF2;P17987	.;TCPA_HUMAN	S	11	ENSP00000317334:R11S;ENSP00000390159:R11S;ENSP00000441345:R11S	ENSP00000317334:R11S	R	-	1	0	TCP1	160130460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.063000	0.57499	2.604000	0.88044	0.650000	0.86243	CGC			0.677	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042917.2		NM_030752		T	160210470	G	T	160210470	3	4	27	1	0	0	0	0	1	0	0	0	15732	1116	39	1	1687	1	TCP1	6	160210470	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	1760640	160210470	10904597	26	1808											
TNRC18	84629	mdanderson.org	37	chr7	5428730	5428730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcggcgcgcgcctcctggGtcaggtccaccacgccccgt	3	6	12	20	6	1	0	1	0	0	0	4	0	3	0	7	3	0	0	7	3	0	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:5428730G>A	ENST00000430969.1	-	5	1073	c.725C>T	c.(724-726)aCc>aTc	p.T242I	TNRC18_ENST00000399537.4_Missense_Mutation_p.T242I	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	242							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)		CGCCTCCTGGGTCAGGTCCAC	0.781																																					p.T242I													.	.			0			c.C725T												2	2	2					7																	5428730		1133	2759	3892	SO:0001583	missense	84629	exon5			TCCTGGGTCAGGT	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.725C>T	7.37:g.5428730G>A	ENSP00000395538:p.Thr242Ile		11	0	0		24	0.08	2	NM_001080495	11	0	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	15.51	2.853800	0.51270	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.15718	2.4;2.4	4.34	4.34	0.51931	.	.	.	.	.	T	0.30479	0.0766	L	0.32530	0.975	0.42943	D	0.994354	D	0.76494	0.999	D	0.66716	0.946	T	0.08289	-1.0729	9	0.52906	T	0.07	.	16.8786	0.86058	0.0:0.0:1.0:0.0	.	242	O15417	TNC18_HUMAN	I	242	ENSP00000382452:T242I;ENSP00000395538:T242I	ENSP00000382452:T242I	T	-	2	0	TNRC18	5395256	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.452000	0.73485	1.935000	0.56089	0.550000	0.68814	ACC			0.781	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding						A	5428730	G	A	5428730	3	1	27	1	0	0	0	0	1	0	0	0	16362	1261	44	3	8285	3	TNRC18	7	5428730	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		5428730	153709933	27	1809											
BBS9	27241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	33388730	33388730	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagccaaattatcagtctaCgtgcaaccaccattagaatt	16	10	5	10	1	2	1	1	0	1	1	2	1	2	1	3	0	4	1	3	0	7	4	rs376024532		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:33388730C>T	ENST00000242067.6	+	13	1901	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	BBS9_ENST00000396127.2_Silent_p.Y460Y|BBS9_ENST00000355070.2_Silent_p.Y460Y|BBS9_ENST00000354265.4_Silent_p.Y460Y|BBS9_ENST00000350941.3_Silent_p.Y460Y	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	460					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TATCAGTCTACGTGCAACCAC	0.323									Bardet-Biedl syndrome																												p.Y460Y													.	.			0			c.C1380T							C	,,,	1,4405	2.1+/-5.4	0,1,2202	190	169	176		1380,1380,1380,1380	-2.7	0.6	7		176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BBS9	NM_001033604.1,NM_001033605.1,NM_014451.3,NM_198428.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	460/853,460/883,460/848,460/888	33388730	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27241	exon13	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AGTCTACGTGCAA		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1380C>T	7.37:g.33388730C>T			276	0	0		455	0.22	99	NM_014451	16	0.06	1	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	1.748	-0.489892	0.04322	2.27E-4	0.0	ENSG00000122507	ENST00000434373	.	.	.	5.41	-2.71	0.05986	.	.	.	.	.	T	0.56572	0.1994	.	.	.	0.36945	D	0.892554	.	.	.	.	.	.	T	0.59101	-0.7517	4	.	.	.	-8.7386	12.3886	0.55347	0.0:0.542:0.0:0.458	.	.	.	.	C	27	.	.	R	+	1	0	BBS9	33355255	0.996000	0.38824	0.566000	0.28421	0.489000	0.33432	0.277000	0.18734	-0.498000	0.06632	-0.482000	0.04802	CGT			0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000329064.1				T	33388730	C	T	33388730	2	4	27	1	0	0	0	0	0	0	0	1	1342	547	19	1		1	BBS9	7	33388730	Silent	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	27960000	33388730	125749933	28	1810											
ASL	435	mdanderson.org	37	chr7	65552333	65552333	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagtggggccattgcAggcaatcccctgggtgtgga	6	8	15	12	0	0	0	0	0	0	0	1	1	1	1	4	5	2	3	4	5	1	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:65552333A>G	ENST00000304874.9	+	9	717	c.615A>G	c.(613-615)gcA>gcG	p.A205A	AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000395331.3_Silent_p.A205A|ASL_ENST00000395332.3_Silent_p.A205A|ASL_ENST00000380839.4_Silent_p.A179A	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	205					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GGGCCATTGCAGGCAATCCCC	0.632																																					p.A205A													.	.			0			c.A615G												81	67	72					7																	65552333		2203	4300	6503	SO:0001819	synonymous_variant	435	exon8			CATTGCAGGCAAT		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.615A>G	7.37:g.65552333A>G			25	0	0		39	0.1	4	NM_001024943	48	0	0	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	ENST00000304874.9	37	CCDS5531.1																																																																																					0.632	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251695.2		NM_000048		G	65552333	A	G	65552333	2	3	27	1	0	0	0	0	0	0	0	1	1044	175	7	4		4	ASL	7	65552333	Silent	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	32163603	65552333	93586330	29	1811											
PHTF2	57157	broad.mit.edu	37	chr7	77567055	77567055	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggctccatagttcccAcccaggattagaaaaaataa	14	8	7	12	0	0	1	0	0	0	1	2	2	2	2	4	2	0	2	4	2	6	4			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:77567055A>C	ENST00000248550.7	+	12	1443	c.1367A>C	c.(1366-1368)cAc>cCc	p.H456P	PHTF2_ENST00000422959.2_Missense_Mutation_p.H422P|PHTF2_ENST00000307305.8_Missense_Mutation_p.H418P|PHTF2_ENST00000424760.1_Missense_Mutation_p.H418P|PHTF2_ENST00000275575.7_Missense_Mutation_p.H418P|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000416283.2_Missense_Mutation_p.H422P			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CATAGTTCCCACCCAGGATTA	0.299																																					p.H422P													.	PHTF2	104		0			c.A1265C												55	49	51					7																	77567055		1797	4061	5858	SO:0001583	missense	57157	exon11			GTTCCCACCCAGG	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1367A>C	7.37:g.77567055A>C	ENSP00000248550:p.His456Pro		214	0.0186915888	4		441	0.03	15	NM_001127357	56	0.02	1	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	A	14.42	2.530774	0.45073	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.19	4.01	0.46588	.	0.177545	0.47093	D	0.000247	T	0.34106	0.0886	N	0.14661	0.345	0.41262	D	0.986786	B;B;P;B;B;B	0.40875	0.256;0.357;0.731;0.004;0.001;0.158	B;B;B;B;B;B	0.37091	0.083;0.125;0.241;0.002;0.002;0.071	T	0.16541	-1.0399	9	0.42905	T	0.14	-9.5915	12.3676	0.55236	0.8587:0.1413:0.0:0.0	.	418;281;422;456;418;418	Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	P	422;422;418;418;418;422;456	.	ENSP00000248550:H456P	H	+	2	0	PHTF2	77404991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.910000	0.92685	0.893000	0.36288	0.482000	0.46254	CAC			0.299	PHTF2-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000340638.2		NM_020432		C	77567055	A	C	77567055	3	2	27	1	0	0	0	0	1	0	0	0	11880	159	6	4	1361	4	PHTF2	7	77567055	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	12014722	77567055	81571608	30	1812											
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	82595343	82595343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgttcttctggggctgatGtttttgcctctgggagtagc	3	17	13	8	0	4	1	0	1	4	0	4	2	4	2	1	3	2	4	1	3	1	5			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:82595343G>A	ENST00000333891.9	-	4	4098	c.3761C>T	c.(3760-3762)aCa>aTa	p.T1254I	PCLO_ENST00000423517.2_Missense_Mutation_p.T1254I	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						TGGGGCTGATGTTTTTGCCTC	0.408																																					p.T1254I													.	.			0			c.C3761T												251	247	248					7																	82595343		1853	4088	5941	SO:0001583	missense	27445	exon4			GCTGATGTTTTTG	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.3761C>T	7.37:g.82595343G>A	ENSP00000334319:p.Thr1254Ile		267	0	0		430	0.2	86	NM_014510	1	0	0		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236342	0.22626	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.09	4.2	0.49525	.	.	.	.	.	T	0.11367	0.0277	N	0.14661	0.345	0.46131	D	0.998888	B;B	0.13145	0.007;0.003	B;B	0.11329	0.006;0.003	T	0.07121	-1.0789	9	0.87932	D	0	.	11.8555	0.52435	0.1463:0.0:0.8537:0.0	.	1254;1254	Q9Y6V0-5;Q9Y6V0-6	.;.	I	1193;1254;1254	ENSP00000334319:T1254I;ENSP00000388393:T1254I	ENSP00000334319:T1254I	T	-	2	0	PCLO	82433279	0.011000	0.17503	0.002000	0.10522	0.009000	0.06853	1.151000	0.31651	1.490000	0.48466	0.655000	0.94253	ACA			0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337368.5		NM_014510		A	82595343	G	A	82595343	3	1	27	1	0	0	0	0	1	0	0	0	11600	1377	48	3	11772	3	PCLO	7	82595343	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	5028288	82595343	76543320	31	1813											
GIGYF1	64599	mdanderson.org	37	chr7	100279588	100279588	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcctggaaggccgtcTgcagcgaggcgctgctcagc	5	7	17	12	3	2	0	1	0	1	0	2	2	2	1	2	5	4	4	2	5	1	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:100279588T>A	ENST00000275732.5	-	23	4163	c.2954A>T	c.(2953-2955)cAg>cTg	p.Q985L	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	985					insulin-like growth factor receptor signaling pathway (GO:0048009)					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)					GAAGGCCGTCTGCAGCGAGGC	0.677																																					p.Q985L													.	.			0			c.A2954T												31	29	30					7																	100279588		2202	4300	6502	SO:0001583	missense	64599	exon23			GCCGTCTGCAGCG	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.2954A>T	7.37:g.100279588T>A	ENSP00000275732:p.Gln985Leu		27	0	0		44	0.07	3	NM_022574	164	0	0	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527939	0.44969	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.84660	-1.88	5.14	5.14	0.70334	.	0.151564	0.44902	D	0.000417	T	0.78799	0.4340	L	0.42245	1.32	0.50039	D	0.999849	B	0.17667	0.023	B	0.19666	0.026	T	0.73745	-0.3886	10	0.36615	T	0.2	-15.0939	9.1101	0.36723	0.0:0.0:0.1845:0.8155	.	985	O75420	PERQ1_HUMAN	L	704;985	ENSP00000275732:Q985L	ENSP00000275732:Q985L	Q	-	2	0	GIGYF1	100117524	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.827000	0.48112	2.159000	0.67721	0.454000	0.30748	CAG			0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347205.2		NM_022574		A	100279588	T	A	100279588	3	1	27	1	0	0	0	0	1	0	0	0	6391	1580	55	5	161	5	GIGYF1	7	100279588	Missense_Mutation	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	17684245	100279588	58859075	32	1814											
EPHB4	2050	broad.mit.edu	37	chr7	100420018	100420018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggggccaggggcggggAcggcatccaccacgcagcta	7	3	18	13	3	0	0	0	0	0	0	1	1	1	1	3	8	1	4	3	8	1	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:100420018A>G	ENST00000358173.3	-	4	1151	c.683T>C	c.(682-684)gTc>gCc	p.V228A	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.V228A|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	228	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGGGCGGGGACGGCATCCAC	0.677																																					p.V228A	GBM(200;2113 3072 25865 52728)												.	EPHB4	106		0			c.T683C												19	21	20					7																	100420018		2191	4283	6474	SO:0001583	missense	2050	exon4			GCGGGGACGGCAT	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.683T>C	7.37:g.100420018A>G	ENSP00000350896:p.Val228Ala		84	0.1547619048	13		138	0.23	32	NM_004444	172	0.05	8	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	A	6.549	0.469533	0.12461	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73363	-0.74;-0.72	5.76	4.62	0.57501	.	0.754947	0.11326	N	0.575560	T	0.64136	0.2571	L	0.38838	1.175	0.27501	N	0.951997	B;B;B;B;B	0.10296	0.0;0.003;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.002;0.0;0.0;0.0	T	0.52909	-0.8512	10	0.33940	T	0.23	.	9.2718	0.37675	0.9158:0.0:0.0842:0.0	.	228;228;228;228;228	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	A	228	ENSP00000353833:V228A;ENSP00000350896:V228A	ENSP00000350896:V228A	V	-	2	0	EPHB4	100257954	0.266000	0.24112	0.465000	0.27155	0.035000	0.12851	2.762000	0.47597	2.192000	0.70111	0.533000	0.62120	GTC			0.677	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347222.1		NM_004444		G	100420018	A	G	100420018	3	3	27	1	0	0	0	0	1	0	0	0	5184	275	10	4	2336	4	EPHB4	7	100420018	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	140430	100420018	58718645	33	1815											
EMID2	136227	broad.mit.edu	37	chr7	101190504	101190504	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcccaggaccccggggTccccctggtccaccaggtaa	6	6	13	16	1	0	0	0	0	0	0	3	1	3	1	7	6	0	1	7	6	1	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:101190504T>G	ENST00000397927.3	+	0	1137				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GACCCCGGGGTCCCCCTGGTC	0.662																																					.													.	.			0			.												15	19	18					7																	101190504		1876	4069	5945			136227	.			CCGGGGTCCCCCT	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101190504T>G			181	0.0994475138	18		236	0.15	36	.	51	0.02	1	Q32M90	RNA	SNP	ENST00000397927.3	37																																																																																						0.662	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000315898.2		NM_133457		G	101190504	T	G	101190504	1	3	27	0	1	0	0	0	0	0	0	0	5099	1654	58	4		4	EMID2	7	101190504	RNA	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	770486	101190504	57948159	34	1816											
LAMB4	22798	broad.mit.edu	37	chr7	107703251	107703251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctactttgagaggtcctagGgtcacagtcacatgactgac	10	10	11	10	0	2	3	2	3	0	1	3	4	3	3	1	2	1	1	1	2	2	3			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:107703251G>T	ENST00000388781.3	-	23	3333	c.3250C>A	c.(3250-3252)Cct>Act	p.P1084T	LAMB4_ENST00000388780.3_Missense_Mutation_p.P1084T|LAMB4_ENST00000205386.4_Missense_Mutation_p.P1084T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1084	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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						GAGGTCCTAGGGTCACAGTCA	0.488																																					p.P1084T													.	LAMB4	253		0			c.C3250A												74	60	65					7																	107703251		2203	4300	6503	SO:0001583	missense	22798	exon23			TCCTAGGGTCACA	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.3250C>A	7.37:g.107703251G>T	ENSP00000373433:p.Pro1084Thr		153	0	0		270	0.02	6	NM_007356	1	0	0	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875116	0.51695	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.88	3.0	0.34707	EGF-like, laminin (3);	0.281355	0.25509	N	0.030195	T	0.63367	0.2505	L	0.57536	1.79	0.80722	D	1	P;B	0.35714	0.517;0.433	P;B	0.46452	0.517;0.285	T	0.62201	-0.6904	10	0.59425	D	0.04	.	6.5892	0.22638	0.1497:0.0:0.7049:0.1453	.	1084;1084	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	T	1084;1084;110;1084	ENSP00000205386:P1084T;ENSP00000373433:P1084T;ENSP00000416562:P110T;ENSP00000373432:P1084T	ENSP00000205386:P1084T	P	-	1	0	LAMB4	107490487	0.998000	0.40836	0.577000	0.28562	0.967000	0.64934	1.930000	0.40124	0.718000	0.32166	0.650000	0.86243	CCT			0.488	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337442.1		XM_209857		T	107703251	G	T	107703251	3	4	27	1	0	0	0	0	1	0	0	0	8628	1232	43	3	2083	3	LAMB4	7	107703251	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	6512747	107703251	51435412	35	1817											
EPHB6	2051	broad.mit.edu	37	chr7	142561026	142561027	+	Frame_Shift_Ins	INS	-	-	G																															cagttagggaacagagtggcINSgggcatggtgtgtagcctat																								rs200527751		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:142561026_142561027insG	ENST00000392957.2	+	5	828_829	c.41_42insG	c.(40-45)gcgggcfs	p.AG14fs	EPHB6_ENST00000411471.2_Frame_Shift_Ins_p.AG14fs|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.AG14fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	14						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)					AACAGAGTGGCGGGCATGGTGT	0.614																																					p.A14fs													.	EPHB6	168		0			c.41_42insG																																									SO:0001589	frameshift_variant	0	exon5			GAGTGGCGGGCAT	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.44dupG	7.37:g.142561029_142561029dupG	ENSP00000376684:p.Ala14fs		158	0	0		207	0.03	6	NM_004445	7	0	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Ins	INS	ENST00000392957.2	37	CCDS5873.2																																																																																					0.614	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341329.1				G	142561027	-	G	142561026	7	5	27	1	0	1	1	0	0	0	0	0	5185	768	27	0	43	0	EPHB6	7	142561026	Frame_Shift_Ins	INS	-	TCGA-2G-AAGE-01A-21D-A42Y-10	34857775	142561026	16577637	36	1818											
MLL3	58508	broad.mit.edu	37	chr7	151873927	151873927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagatctggatcacaaggatGcaaagaagtcttttctccat	13	12	8	8	0	4	2	1	0	3	2	5	4	4	4	1	2	1	1	1	2	4	3			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:151873927G>T	ENST00000262189.6	-	38	8829	c.8611C>A	c.(8611-8613)Cat>Aat	p.H2871N	KMT2C_ENST00000355193.2_Missense_Mutation_p.H2871N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2871					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)										TCACAAGGATGCAAAGAAGTC	0.413																																					p.H2871N													.	MLL3	1564		0			c.C8611A												120	115	117					7																	151873927		2203	4300	6503	SO:0001583	missense	58508	exon38			AAGGATGCAAAGA	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.8611C>A	7.37:g.151873927G>T	ENSP00000262189:p.His2871Asn		114	0	0		166	0.02	4	NM_170606	11	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.105|2.105	-0.405105|-0.405105	0.04832|0.04832	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.82526	.|-1.62;-1.62	5.4|5.4	2.4|2.4	0.29515|0.29515	.|.	.|0.333168	.|0.21290	.|N	.|0.076996	T|T	0.63331|0.63331	0.2502|0.2502	N|N	0.08118|0.08118	0|0	0.20638|0.20638	N|N	0.999879|0.999879	.|B;B;B	.|0.19817	.|0.028;0.039;0.001	.|B;B;B	.|0.18871	.|0.006;0.023;0.0	T|T	0.51624|0.51624	-0.8682|-0.8682	5|10	.|0.26408	.|T	.|0.33	.|.	8.4469|8.4469	0.32847|0.32847	0.0673:0.1127:0.7039:0.116|0.0673:0.1127:0.7039:0.116	.|.	.|2871;1932;2871	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	E|N	376|2871	.|ENSP00000262189:H2871N;ENSP00000347325:H2871N	.|ENSP00000262189:H2871N	A|H	-|-	2|1	0|0	MLL3|MLL3	151504860|151504860	0.003000|0.003000	0.15002|0.15002	0.002000|0.002000	0.10522|0.10522	0.392000|0.392000	0.30506|0.30506	1.303000|1.303000	0.33470|0.33470	1.239000|1.239000	0.43787|0.43787	0.650000|0.650000	0.86243|0.86243	GCA|CAT			0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3				T	151873927	G	T	151873927	3	4	27	1	0	0	0	0	1	0	0	0	9638	1319	46	2	6212	2	MLL3	7	151873927	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	9312901	151873927	7264736	37	1819											
CSPP1	79848	broad.mit.edu	37	chr8	68049789	68049789	+	Frame_Shift_Del	DEL	A	A	-																															agaacatataatccctggggAaaaggtggaggtggtgctcc																										TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr8:68049789delA	ENST00000262210.5	+	15	1942	c.1911delA	c.(1909-1911)ggafs	p.G637fs	CSPP1_ENST00000412460.1_Frame_Shift_Del_p.G343fs	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	672					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATCCCTGGGGAAAAGGTGGAG	0.348																																					p.G637fs													.	CSPP1	129		0			c.1911delA												85	89	88					8																	68049789		1845	4085	5930	SO:0001589	frameshift_variant	79848	exon15			CTGGGGAAAAGGT	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1911delA	8.37:g.68049789delA	ENSP00000262210:p.Gly637fs		287	0	0		885	0.01	7	NM_024790	49	0	0	A6ND63|Q70F00|Q8TBC1	Frame_Shift_Del	DEL	ENST00000262210.5	37	CCDS43744.1																																																																																					0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379254.1		NM_024790		-	68049789	A	-	68049789	7	5	27	1	0	1	0	1	0	0	0	0	3964	233	9	0	2082	0	CSPP1	8	68049789	Frame_Shift_Del	DEL	A	TCGA-2G-AAGE-01A-21D-A42Y-10		68049789	78314233	38	1820											
SLC26A7	115111	broad.mit.edu	37	chr8	92261932	92261932	+	Frame_Shift_Del	DEL	C	C	-																															gctttggagcaagatgcataCcccccagtgtgaagacatta																										TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr8:92261932delC	ENST00000276609.3	+	2	292	c.53delC	c.(52-54)accfs	p.T18fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.T18fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.T18fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAGATGCATACCCCCCAGTGT	0.398																																					p.T18fs													.	SLC26A7	207		0			c.53delC												128	112	117					8																	92261932		2203	4300	6503	SO:0001589	frameshift_variant	115111	exon2			TGCATACCCCCCA	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.53delC	8.37:g.92261932delC	ENSP00000276609:p.Thr18fs		118	0	0		356	0.02	7	NM_134266	1	0	0		Frame_Shift_Del	DEL	ENST00000276609.3	37	CCDS6254.1																																																																																					0.398	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377011.1				-	92261932	C	-	92261932	7	5	27	1	0	1	0	1	0	0	0	0	14545	507	18	0	55	0	SLC26A7	8	92261932	Frame_Shift_Del	DEL	C	TCGA-2G-AAGE-01A-21D-A42Y-10	24212143	92261932	54102090	39	1821											
PPP1R16A	84988	mdanderson.org	37	chr8	145727188	145727188	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaccccccagcctgacTgtggcttcagggcaggcggg	5	6	16	14	2	1	2	1	2	0	0	1	2	1	2	4	5	1	2	4	5	0	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr8:145727188T>A	ENST00000292539.4	+	11	2406	c.1489T>A	c.(1489-1491)Tgt>Agt	p.C497S	GPT_ENST00000528431.1_5'Flank|CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.C497S|CTD-2517M14.5_ENST00000569326.1_RNA|GPT_ENST00000394955.2_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	497						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	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)			CCAGCCTGACTGTGGCTTCAG	0.701																																					p.C497S													.	.			0			c.T1489A												13	14	14					8																	145727188		2141	4227	6368	SO:0001583	missense	84988	exon10			CCTGACTGTGGCT		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1489T>A	8.37:g.145727188T>A	ENSP00000292539:p.Cys497Ser		52	0	0		51	0.06	3	NM_032902	52	0	0	D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	T	7.813	0.716187	0.15306	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.69435	-0.4;-0.4	4.48	-3.36	0.04913	.	1.462480	0.04260	N	0.340214	T	0.41373	0.1156	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30179	-0.9987	10	0.05620	T	0.96	.	1.2274	0.01936	0.136:0.1678:0.2806:0.4156	.	497	Q96I34	PP16A_HUMAN	S	497	ENSP00000292539:C497S;ENSP00000391126:C497S	ENSP00000292539:C497S	C	+	1	0	PPP1R16A	145697996	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.199000	0.09491	-1.016000	0.03371	0.379000	0.24179	TGT			0.701	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382459.1		NM_032902		A	145727188	T	A	145727188	3	1	27	1	0	0	0	0	1	0	0	0	12385	1580	55	5	1527	5	PPP1R16A	8	145727188	Missense_Mutation	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	53465256	145727188	636834	40	1822											
GALT	2592	broad.mit.edu	37	chr9	34649411	34649411	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctttctgtcaggggcTcccacaggatcagaggctgg	6	11	12	12	0	5	1	2	0	3	1	6	2	6	2	1	5	0	2	1	5	0	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:34649411T>C	ENST00000378842.3	+	10	951	c.909T>C	c.(907-909)gcT>gcC	p.A303A	GALT_ENST00000450095.2_Silent_p.A194A|GALT_ENST00000488412.2_3'UTR|IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000556278.1_Intron|IL11RA_ENST00000441545.2_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	303					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)		TGTCAGGGGCTCCCACAGGAT	0.542									Galactosemia																												p.A303A													.	GALT	29		0			c.T909C												88	91	90					9																	34649411		2203	4300	6503	SO:0001819	synonymous_variant	2592	exon10	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	AGGGGCTCCCACA	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.909T>C	9.37:g.34649411T>C			68	0.0147058824	1		78	0.09	7	NM_000155	46	0	0	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	Silent	SNP	ENST00000378842.3	37	CCDS6565.1																																																																																					0.542	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052231.1		NM_000155		C	34649411	T	C	34649411	2	2	27	1	0	0	0	0	0	0	0	1	6244	1538	54	4		4	GALT	9	34649411	Silent	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10		34649411	106564020	41	1823											
TESK1	7016	broad.mit.edu	37	chr9	35609179	35609179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgctcactaccctcaTcccccgagctcccccgccgt	4	7	7	23	4	2	0	2	0	0	0	4	1	4	0	7	0	3	3	7	0	1	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:35609179T>C	ENST00000336395.5	+	10	1571	c.1321T>C	c.(1321-1323)Tcc>Ccc	p.S441P	CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	441					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTACCCTCATCCCCCGAGCT	0.672																																					p.S441P													TESK1,NS,carcinoma,0,1	TESK1	46	1	0			c.T1321C												53	63	60					9																	35609179		2199	4296	6495	SO:0001583	missense	7016	exon10			CCCTCATCCCCCG	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1321T>C	9.37:g.35609179T>C	ENSP00000338127:p.Ser441Pro		77	0.1688311688	13		65	0.28	18	NM_006285	49	0.12	6	Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521822	0.64747	.	.	ENSG00000107140	ENST00000336395	T	0.69175	-0.38	5.69	5.69	0.88448	.	0.000000	0.44483	D	0.000445	T	0.72495	0.3467	L	0.52011	1.625	0.44798	D	0.997808	D;D	0.61697	0.99;0.99	P;P	0.54815	0.743;0.761	T	0.75651	-0.3244	10	0.72032	D	0.01	-23.1913	14.777	0.69738	0.0:0.0:0.0:1.0	.	359;441	B4DQQ3;Q15569	.;TESK1_HUMAN	P	441	ENSP00000338127:S441P	ENSP00000338127:S441P	S	+	1	0	TESK1	35599179	1.000000	0.71417	0.999000	0.59377	0.707000	0.40811	3.342000	0.52159	2.162000	0.67917	0.533000	0.62120	TCC			0.672	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052314.1		NM_006285		C	35609179	T	C	35609179	3	2	27	1	0	0	0	0	1	0	0	0	15790	1435	50	4	1359	4	TESK1	9	35609179	Missense_Mutation	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	959768	35609179	105604252	42	1824											
GBA2	57704	mdanderson.org	37	chr9	35741872	35741872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagtctgcccttcccgacGcaggcacactgtgaacttaa	10	8	8	15	2	1	1	0	1	1	0	2	2	2	1	2	1	2	2	2	1	2	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:35741872G>A	ENST00000378103.3	-	4	1106	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	GBA2_ENST00000378094.4_Missense_Mutation_p.R195C|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R201C	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	195					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTCCCGACGCAGGCACACT	0.572																																					p.R195C													.	.			0			c.C583T												61	52	55					9																	35741872		2203	4300	6503	SO:0001583	missense	57704	exon4			CCCGACGCAGGCA	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.583C>T	9.37:g.35741872G>A	ENSP00000367343:p.Arg195Cys		48	0	0		53	0.06	3	NM_020944	15	0	0	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783411	0.90282	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.68	4.79	0.61399	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.86953	2.85	0.80722	D	1	B;D;B	0.89917	0.257;1.0;0.302	B;D;B	0.87578	0.042;0.998;0.071	D	0.84921	0.0854	9	0.72032	D	0.01	-6.2065	14.6242	0.68608	0.0698:0.0:0.9302:0.0	.	201;195;195	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	C	195;195;201	.	ENSP00000367334:R195C	R	-	1	0	GBA2	35731872	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.753000	0.98904	1.406000	0.46857	0.563000	0.77884	CGT			0.572	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000055456.1		NM_020944		A	35741872	G	A	35741872	3	1	27	1	0	0	0	0	1	0	0	0	6281	1087	38	1	2256	1	GBA2	9	35741872	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	132693	35741872	105471559	43	1825											
LRSAM1	90678	broad.mit.edu	37	chr9	130216851	130216851	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaacccagtgaggaggctcgGaaacgcctggagtaccagat	13	5	13	10	2	0	2	0	1	0	1	1	5	0	5	3	4	3	2	3	4	3	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:130216851G>T	ENST00000323301.4	+	2	649	c.45G>T	c.(43-45)cgG>cgT	p.R15R	LRSAM1_ENST00000373322.1_Silent_p.R15R|LRSAM1_ENST00000373324.4_Silent_p.R15R|LRSAM1_ENST00000300417.6_Silent_p.R15R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	15					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						AGGAGGCTCGGAAACGCCTGG	0.567																																					p.R15R													LRSAM1,NS,malignant_melanoma,+2,1	LRSAM1	40	1	0			c.G45T												107	104	105					9																	130216851		2203	4300	6503	SO:0001819	synonymous_variant	90678	exon3			GGCTCGGAAACGC	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.45G>T	9.37:g.130216851G>T			178	0.0056179775	1		205	0.03	6	NM_001005373	5	0	0	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	CCDS6873.1																																																																																					0.567	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054164.1		NM_138361		T	130216851	G	T	130216851	2	4	27	1	0	0	0	0	0	0	0	1	9059	1161	41	3		3	LRSAM1	9	130216851	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	94474979	130216851	10996580	44	1826											
EHMT1	79813	broad.mit.edu	37	chr9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttagcttgcttgccttttGttttagcagctgcagtatct	5	20	8	8	0	1	0	0	0	1	0	1	0	1	0	1	0	6	7	1	0	3	9			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.V249F(2)|p.V280F(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		cttgccttttgttttAGCAGC	0.358																																					p.V280F													EHMT1_ENST00000460843,NS,carcinoma,0,6	EHMT1	196	6	4	Substitution - Missense(4)	endometrium(4)	c.G838T												35	35	35					9																	140637837		2203	4300	6503	SO:0001583	missense	79813	exon5			CCTTTTGTTTTAG	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.838G>T	9.37:g.140637837G>T	ENSP00000417980:p.Val280Phe		46	0.1956521739	9		23	0.48	11	NM_001145527	45	0	0	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065618	0.55539	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70631	1.61;0.83;-0.5	5.42	5.42	0.78866	.	0.151391	0.42294	D	0.000734	T	0.77552	0.4147	L	0.44542	1.39	0.32618	N	0.523778	P;D;B	0.63880	0.94;0.993;0.302	P;P;B	0.59487	0.564;0.858;0.117	T	0.81955	-0.0696	10	0.56958	D	0.05	.	17.9855	0.89154	0.0:0.0:1.0:0.0	.	280;249;280	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	F	249;249;280;280	ENSP00000334476:V249F;ENSP00000417328:V280F;ENSP00000417980:V280F	ENSP00000334476:V249F	V	+	1	0	EHMT1	139757658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.547000	0.36190	2.539000	0.85634	0.561000	0.74099	GTT			0.358	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055371.2		NM_024757		T	140637837	G	T	140637837	3	4	27	1	0	0	0	0	1	0	0	0	4988	1377	48	3	856	3	EHMT1	9	140637837	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	10420986	140637837	575594	45	1827											
BICC1	80114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	60560687	60560687	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagtaggcatgcctcgAagtccttcccattctgggaa	9	11	11	10	1	1	1	0	1	1	0	4	3	3	2	3	2	1	3	3	2	4	4			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr10:60560687A>G	ENST00000373886.3	+	14	1900	c.1896A>G	c.(1894-1896)cgA>cgG	p.R632R	BICC1_ENST00000263103.1_Silent_p.R258R	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	632					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						GCATGCCTCGAAGTCCTTCCC	0.438																																					p.R632R													BICC1,colon,carcinoma,+1,2	BICC1	1	2	0			c.A1896G												178	166	170					10																	60560687		2203	4300	6503	SO:0001819	synonymous_variant	80114	exon14			GCCTCGAAGTCCT	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.1896A>G	10.37:g.60560687A>G			145	0	0		102	0.32	33	NM_001080512	7	0.86	6		Silent	SNP	ENST00000373886.3	37	CCDS31206.1																																																																																					0.438	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048150.2		NM_025044		G	60560687	A	G	60560687	2	3	27	1	0	0	0	0	0	0	0	1	1427	233	9	4		4	BICC1	10	60560687	Silent	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10		60560687	74974060	46	1828											
KIAA1274	27143	broad.mit.edu	37	chr10	72293719	72293719	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgatgcccacgggccTcccccagccctcgtcttcag	4	8	9	20	3	2	1	1	1	1	0	5	1	4	1	6	1	2	0	6	1	0	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr10:72293719T>C	ENST00000263563.6	+	8	1180	c.912T>C	c.(910-912)ccT>ccC	p.P304P		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	304						cytosol (GO:0005829)											CCCACGGGCCTCCCCCAGCCC	0.662																																					p.P304P													.	.			0			c.T912C												37	33	35					10																	72293719		2203	4300	6503	SO:0001819	synonymous_variant	27143	exon8			CGGGCCTCCCCCA	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.912T>C	10.37:g.72293719T>C			124	0	0		94	0.03	3	NM_014431	16	0	0	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	CCDS31215.1																																																																																					0.662	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048515.2		NM_014431		C	72293719	T	C	72293719	2	2	27	1	0	0	0	0	0	0	0	1	8235	1538	54	4		4	KIAA1274	10	72293719	Silent	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	11733032	72293719	63241028	47	1829											
TNNT3	7140	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	1955860	1955860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcaagccgctcaacatcGatcaccttggtgaagacaaa	14	6	9	12	3	2	2	2	1	0	1	3	4	2	2	2	1	2	2	2	1	4	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:1955860G>T	ENST00000397301.1	+	14	606	c.598G>T	c.(598-600)Gat>Tat	p.D200Y	TNNT3_ENST00000360603.3_Missense_Mutation_p.D183Y|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381558.1_Missense_Mutation_p.D181Y|TNNT3_ENST00000381548.3_Missense_Mutation_p.D191Y|TNNT3_ENST00000278317.6_Missense_Mutation_p.D189Y|TNNT3_ENST00000397304.2_Missense_Mutation_p.D170Y|TNNT3_ENST00000381549.3_Missense_Mutation_p.D181Y|TNNT3_ENST00000381589.3_Missense_Mutation_p.D187Y|TNNT3_ENST00000381561.4_Missense_Mutation_p.D192Y|TNNT3_ENST00000446240.1_Missense_Mutation_p.D170Y|TNNT3_ENST00000381579.3_Missense_Mutation_p.D181Y			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	200					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)		GCTCAACATCGATCACCTTGG	0.612																																					p.D189Y													.	.			0			c.G565T												30	29	29					11																	1955860		2200	4298	6498	SO:0001583	missense	7140	exon13			AACATCGATCACC	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.598G>T	11.37:g.1955860G>T	ENSP00000380468:p.Asp200Tyr		80	0	0		105	0.05	5	NM_006757	9	0	0	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37		.	.	.	.	.	.	.	.	.	.	.	16.08	3.021277	0.54576	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;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	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	3.86	3.86	0.44501	.	0.167813	0.53938	D	0.000055	D	0.97182	0.9079	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D	0.67145	0.995;0.995;0.995;0.995;0.996	D;D;D;D;D	0.74674	0.973;0.973;0.973;0.973;0.984	D	0.98302	1.0519	10	0.87932	D	0	-4.9075	16.3717	0.83364	0.0:0.0:1.0:0.0	.	189;181;187;181;200	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	Y	189;85;201;192;191;183;181;187;181;175;170;192;176;181;200;170;170	ENSP00000278317:D189Y;ENSP00000370973:D192Y;ENSP00000370960:D191Y;ENSP00000353815:D183Y;ENSP00000370961:D181Y;ENSP00000371001:D187Y;ENSP00000370991:D181Y;ENSP00000370969:D175Y;ENSP00000415614:D170Y;ENSP00000370975:D192Y;ENSP00000344870:D176Y;ENSP00000370970:D181Y;ENSP00000380468:D200Y;ENSP00000380471:D170Y;ENSP00000413203:D170Y	ENSP00000278317:D189Y	D	+	1	0	TNNT3	1912436	1.000000	0.71417	0.982000	0.44146	0.197000	0.23852	8.886000	0.92447	2.171000	0.68590	0.313000	0.20887	GAT			0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000142920.3		NM_006757		T	1955860	G	T	1955860	3	4	27	1	0	0	0	0	1	0	0	0	16355	1058	37	1	652	1	TNNT3	11	1955860	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		1955860	133050656	48	1830											
ABCC8	6833	mdanderson.org	37	chr11	17482169	17482169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcctcccgaaggcatGgctgagtgcctgccagatgg	7	6	15	13	2	0	2	0	1	0	1	1	3	1	2	4	4	2	2	4	4	1	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:17482169G>T	ENST00000389817.3	-	6	945	c.877C>A	c.(877-879)Cat>Aat	p.H293N	ABCC8_ENST00000302539.4_Missense_Mutation_p.H293N			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	293					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)	CCGAAGGCATGGCTGAGTGCC	0.632																																					p.H293N													.	.			0			c.C877A												65	65	65					11																	17482169		2200	4293	6493	SO:0001583	missense	6833	exon6			AGGCATGGCTGAG	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.877C>A	11.37:g.17482169G>T	ENSP00000374467:p.His293Asn		49	0	0		40	0.08	3	NM_000352	0		0	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069502	0.20147	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.94376	-3.41;-3.41	5.53	3.66	0.41972	ABC transporter, transmembrane domain, type 1 (1);	0.588486	0.18863	N	0.129067	D	0.86912	0.6047	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.74674	-0.3586	10	0.33141	T	0.24	.	4.9952	0.14235	0.2262:0.0:0.6156:0.1582	.	292;293	B7Z4N0;Q09428	.;ABCC8_HUMAN	N	293;293;307	ENSP00000374467:H293N;ENSP00000303960:H293N	ENSP00000303960:H293N	H	-	1	0	ABCC8	17438745	0.979000	0.34478	0.775000	0.31657	0.544000	0.35116	1.669000	0.37492	1.351000	0.45789	0.561000	0.74099	CAT			0.632	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000389093.1		NM_000352		T	17482169	G	T	17482169	3	4	27	1	0	0	0	0	1	0	0	0	58	1348	47	3	4004	3	ABCC8	11	17482169	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	15526309	17482169	117524347	49	1831											
VPS37C	55048	mdanderson.org	37	chr11	60901649	60901649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctccggttggtggccagtgCcatctcccgttccagctgta	4	11	12	14	2	1	0	0	0	1	0	4	0	3	0	5	3	2	5	5	3	1	3			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:60901649C>T	ENST00000301765.5	-	3	356	c.124G>A	c.(124-126)Gca>Aca	p.A42T		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	42					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GTGGCCAGTGCCATCTCCCGT	0.587																																					p.A42T													.	.			0			c.G124A												65	64	64					11																	60901649		2203	4299	6502	SO:0001583	missense	55048	exon3			CCAGTGCCATCTC	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.124G>A	11.37:g.60901649C>T	ENSP00000301765:p.Ala42Thr		53	0	0		51	0.06	3	NM_017966	54	0	0	Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162193	0.38217	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.76578	-1.03;-1.03	5.3	5.3	0.74995	Modifier of rudimentary, Modr (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	N	0.25380	0.74	0.53005	D	0.999963	D;P	0.89917	1.0;0.896	D;P	0.91635	0.999;0.753	T	0.72584	-0.4249	10	0.07325	T	0.83	-13.6084	17.1334	0.86732	0.0:1.0:0.0:0.0	.	42;42	B4DYD9;A5D8V6	.;VP37C_HUMAN	T	42	ENSP00000301765:A42T;ENSP00000446013:A42T	ENSP00000301765:A42T	A	-	1	0	VPS37C	60658225	1.000000	0.71417	0.998000	0.56505	0.643000	0.38383	1.887000	0.39698	2.496000	0.84212	0.491000	0.48974	GCA			0.587	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396467.1		NM_017966		T	60901649	C	T	60901649	3	4	27	1	0	0	0	0	1	0	0	0	17231	739	26	2	955	2	VPS37C	11	60901649	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	43419480	60901649	74104867	50	1832											
MARK2	2011	broad.mit.edu;mdanderson.org	37	chr11	63667568	63667568	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggatccctgccttttgatGgacagaacctcaaggtggag	9	9	13	10	1	1	2	1	1	0	1	2	5	2	5	3	4	2	0	3	4	2	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:63667568G>T	ENST00000509502.2	+	8	1118	c.655G>T	c.(655-657)Gga>Tga	p.G219*	MARK2_ENST00000361128.5_Nonsense_Mutation_p.G252*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.G252*|MARK2_ENST00000413835.2_Nonsense_Mutation_p.G252*|MARK2_ENST00000513765.2_Nonsense_Mutation_p.G219*|MARK2_ENST00000402010.2_Nonsense_Mutation_p.G252*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.G252*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.G252*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.G252*|MARK2_ENST00000425897.2_Nonsense_Mutation_p.G219*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.G219*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.G219*|MARK2_ENST00000350490.7_Nonsense_Mutation_p.G252*	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						GCCTTTTGATGGACAGAACCT	0.507																																					p.G252X													.	MARK2	91		0			c.G754T												157	171	166					11																	63667568		2201	4297	6498	SO:0001587	stop_gained	2011	exon8			TTTGATGGACAGA	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.655G>T	11.37:g.63667568G>T	ENSP00000423974:p.Gly219*		98	0	0		112	0.04	5	NM_001163296	47	0	0		Nonsense_Mutation	SNP	ENST00000509502.2	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	41	8.667776	0.98908	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0815	0.89442	0.0:0.0:1.0:0.0	.	.	.	.	X	252;252;252;252;219;252;252;252;252;219;219;219;219	.	ENSP00000326632:G252X	G	+	1	0	MARK2	63424144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.654000	0.98509	2.806000	0.96561	0.645000	0.84053	GGA			0.507	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000360862.2		NM_017490		T	63667568	G	T	63667568	4	4	27	1	0	0	0	0	0	1	0	0	9329	1349	47	3	784	3	MARK2	11	63667568	Nonsense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	2765919	63667568	71338948	51	1833											
TM7SF2	7108	broad.mit.edu	37	chr11	64880133	64880133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcgctgctgctgtggCtcgcctggctcggcctgcag	2	8	16	15	4	0	0	0	0	0	0	2	0	0	0	2	4	3	6	2	4	0	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:64880133C>T	ENST00000279263.7	+	2	361	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000540748.1_5'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Missense_Mutation_p.L67F	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	67					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						GCTGCTGTGGCTCGCCTGGCT	0.776																																					p.L67F													.	TM7SF2	30		0			c.C199T												2	2	2					11																	64880133		1298	2944	4242	SO:0001583	missense	7108	exon2			CTGTGGCTCGCCT	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.199C>T	11.37:g.64880133C>T	ENSP00000279263:p.Leu67Phe		22	0	0		19	0.11	2	NM_003273	0		0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302633	0.40795	.	.	ENSG00000149809	ENST00000526809;ENST00000279263;ENST00000524986;ENST00000534371;ENST00000525385;ENST00000345348;ENST00000531321;ENST00000529414;ENST00000530750	D;D;D;D;D;D;D;D;D	0.99136	-4.93;-4.84;-4.84;-5.47;-4.84;-4.84;-5.47;-4.84;-4.84	4.77	1.86	0.25419	.	227.746000	0.00447	N	0.000080	D	0.97548	0.9197	L	0.45352	1.415	0.32751	N	0.506345	B;B	0.22480	0.07;0.016	B;B	0.26310	0.057;0.068	D	0.92454	0.5972	10	0.45353	T	0.12	1.1333	7.6604	0.28400	0.0:0.7102:0.0:0.2898	.	67;67	O76062-2;O76062	.;ERG24_HUMAN	F	67;67;38;67;38;67;38;67;67	ENSP00000432171:L67F;ENSP00000279263:L67F;ENSP00000435972:L38F;ENSP00000432187:L67F;ENSP00000433325:L38F;ENSP00000329520:L67F;ENSP00000431300:L38F;ENSP00000433275:L67F;ENSP00000432413:L67F	ENSP00000279263:L67F	L	+	1	0	TM7SF2	64636709	0.292000	0.24362	0.304000	0.25085	0.983000	0.72400	0.540000	0.23191	0.226000	0.20979	0.561000	0.74099	CTC			0.776	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385234.1		NM_003273		T	64880133	C	T	64880133	3	4	27	1	0	0	0	0	1	0	0	0	15997	797	28	2	205	2	TM7SF2	11	64880133	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	1212565	64880133	70126383	52	1834											
PC	5091	mdanderson.org	37	chr11	66639224	66639224	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccaggccgcggccgatGagataggcttcatctgcttt	6	9	15	11	3	2	1	1	1	1	1	2	3	2	1	3	5	1	2	3	5	1	3			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:66639224G>T	ENST00000393958.2	-	4	348	c.255C>A	c.(253-255)ctC>ctA	p.L85L	PC_ENST00000355677.3_Silent_p.L85L|PC_ENST00000393960.1_Silent_p.L85L|PC_ENST00000393955.2_Silent_p.L85L|PC_ENST00000524491.1_Silent_p.L45L	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	85	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)	CGCGGCCGATGAGATAGGCTT	0.647																																					p.L85L													.	.			0			c.C255A												35	37	36					11																	66639224		2191	4290	6481	SO:0001819	synonymous_variant	5091	exon3			GCCGATGAGATAG	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.255C>A	11.37:g.66639224G>T			41	0	0		42	0.07	3	NM_022172	10	0	0	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																					0.647	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393115.1		NM_001040716		T	66639224	G	T	66639224	2	4	27	1	0	0	0	0	0	0	0	1	11514	1277	45	3		3	PC	11	66639224	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	1759091	66639224	68367292	53	1835											
UNC93B1	81622	broad.mit.edu	37	chr11	67763107	67763107	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtcttgttcagggcActgcccacaccccaaagggc	9	7	10	15	0	2	0	1	0	1	0	3	0	3	0	4	2	1	2	4	2	1	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:67763107A>G	ENST00000227471.2	-	10	1414	c.1335T>C	c.(1333-1335)agT>agC	p.S445S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TGTTCAGGGCACTGCCCACAC	0.617																																					.													.	.			0			.												10	10	10					11																	67763107		1758	3730	5488	SO:0001819	synonymous_variant	81622	.			CAGGGCACTGCCC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1335T>C	11.37:g.67763107A>G			74	0.0135135135	1		118	0.07	8	.	65	0	0	O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37																																																																																						0.617	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_030930		G	67763107	A	G	67763107	2	3	27	1	0	0	0	0	0	0	0	1	17021	156	6	4		4	UNC93B1	11	67763107	Silent	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	1123883	67763107	67243409	54	1836											
ACAT1	38	broad.mit.edu	37	chr11	108018054	108018054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttgaagcaaggagaataCggtcttgccagtatttgcaa	12	10	11	8	1	1	2	0	1	1	1	1	3	1	2	2	2	4	3	2	2	6	5	rs367713788		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:108018054C>T	ENST00000265838.4	+	12	1312	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	407					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|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;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AAGGAGAATACGGTCTTGCCA	0.418																																					p.Y407Y													ACAT1,caecum,carcinoma,+1,1	ACAT1	35	1	0			c.C1221T							C		0,4402		0,0,2201	148	129	136		1221	-5.2	0.6	11		136	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ACAT1	NM_000019.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		407/428	108018054	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	38	exon12			AGAATACGGTCTT	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1221C>T	11.37:g.108018054C>T			93	0.0107526882	1		111	0.03	3	NM_000019	80	0	0	B2R6H1|G3XAB4|Q96FG8	Silent	SNP	ENST00000265838.4	37	CCDS8339.1																																																																																					0.418	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389474.1		NM_000019		T	108018054	C	T	108018054	2	4	27	1	0	0	0	0	0	0	0	1	121	547	19	1		1	ACAT1	11	108018054	Silent	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	40254947	108018054	26988462	55	1837											
APLP2	334	broad.mit.edu	37	chr11	129999082	129999082	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaactacctggctgcctTgcagtctgacccgccacggg	7	7	13	14	2	1	2	0	1	1	1	1	3	1	2	4	3	4	2	4	3	2	2			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:129999082T>G	ENST00000263574.5	+	10	1508	c.1436T>G	c.(1435-1437)tTg>tGg	p.L479W	APLP2_ENST00000539648.1_Missense_Mutation_p.L267W|APLP2_ENST00000278756.7_Missense_Mutation_p.L489W|APLP2_ENST00000345598.5_Missense_Mutation_p.L250W|APLP2_ENST00000543137.1_Missense_Mutation_p.L386W|APLP2_ENST00000528499.1_Missense_Mutation_p.L423W|APLP2_ENST00000338167.5_Missense_Mutation_p.L479W	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	479					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CTGGCTGCCTTGCAGTCTGAC	0.592																																					p.L489W													.	APLP2	71		0			c.T1466G												83	76	78					11																	129999082		2201	4297	6498	SO:0001583	missense	334	exon10			CTGCCTTGCAGTC	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1436T>G	11.37:g.129999082T>G	ENSP00000263574:p.Leu479Trp		88	0.0113636364	1		66	0.08	5	NM_001243299	508	0	0	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465001	0.84425	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.71	5.71	0.89125	Amyloidogenic glycoprotein, E2 domain (2);	0.069808	0.64402	D	0.000015	T	0.79317	0.4425	M	0.86740	2.835	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	0.999;1.0;0.998;1.0;0.999;0.998;0.999	T	0.83269	-0.0044	10	0.87932	D	0	-13.9755	15.1717	0.72878	0.0:0.0:0.0:1.0	.	267;479;423;250;417;423;479	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	W	423;267;479;250;479;489;386	ENSP00000435914:L423W;ENSP00000443728:L267W;ENSP00000263574:L479W;ENSP00000263575:L250W;ENSP00000345444:L479W;ENSP00000278756:L489W;ENSP00000444122:L386W	ENSP00000263574:L479W	L	+	2	0	APLP2	129504292	1.000000	0.71417	0.986000	0.45419	0.749000	0.42624	7.698000	0.84413	2.176000	0.68965	0.533000	0.62120	TTG			0.592	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386109.1		NM_001642		G	129999082	T	G	129999082	3	3	27	1	0	0	0	0	1	0	0	0	779	1821	63	4	1474	4	APLP2	11	129999082	Missense_Mutation	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	21981028	129999082	5007434	56	1838											
TAS2R43	259289	ucsc.edu;bcgsc.ca	37	chr12	11244616	11244616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactattaaaagctggattCaacacagttgaataccagtt	16	11	6	8	0	1	1	1	1	0	0	1	2	1	2	1	1	3	3	1	1	6	6			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:11244616C>G	ENST00000531678.1	-	1	296	c.213G>C	c.(211-213)ttG>ttC	p.L71F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	71					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AAGCTGGATTCAACACAGTTG	0.408																																					p.L71F													.	TAS2R43	19		0			c.G213C												52	45	47					12																	11244616		1936	3996	5932	SO:0001583	missense	259289	exon1			TGGATTCAACACA	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.213G>C	12.37:g.11244616C>G	ENSP00000431719:p.Leu71Phe		121	0.0165289256	2		562	0.56	313	NM_176884	0		0	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.849609	0.00563	.	.	ENSG00000255374	ENST00000531678	T	0.00745	5.75	1.97	-3.95	0.04118	.	.	.	.	.	T	0.00524	0.0017	N	0.16602	0.42	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.42982	-0.9419	9	0.18710	T	0.47	.	4.1028	0.10023	0.2506:0.4258:0.3236:0.0	.	71	P59537	T2R43_HUMAN	F	71	ENSP00000431719:L71F	ENSP00000431719:L71F	L	-	3	2	TAS2R43	11135883	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.495000	0.02294	-1.022000	0.03346	-1.296000	0.01341	TTG			0.408	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383561.1		NM_176884		G	11244616	C	G	11244616	3	3	27	1	0	0	0	0	1	0	0	0	15604	825	29	5	720	5	TAS2R43	12	11244616	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10		11244616	122607279	57	1839											
H1FNT	341567	mdanderson.org	37	chr12	48723627	48723627	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagccaaggccaatgccAgggcgaggaggaccaggagg	13	1	17	10	2	0	0	0	0	0	0	0	5	0	3	4	6	2	0	4	6	3	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:48723627A>G	ENST00000335017.1	+	1	865	c.553A>G	c.(553-555)Agg>Ggg	p.R185G		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	185	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGCCAATGCCAGGGCGAGGAG	0.706																																					p.R185G													.	.			0			c.A553G												46	41	43					12																	48723627		2184	4295	6479	SO:0001583	missense	341567	exon1			AATGCCAGGGCGA	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.553A>G	12.37:g.48723627A>G	ENSP00000334805:p.Arg185Gly		39	0	0		58	0.05	3	NM_181788	0		0	Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	A	1.321	-0.599350	0.03744	.	.	ENSG00000187166	ENST00000335017	T	0.19806	2.12	1.5	1.5	0.22942	.	.	.	.	.	T	0.10809	0.0264	N	0.22421	0.69	0.09310	N	1	P	0.48694	0.914	B	0.37601	0.254	T	0.16364	-1.0405	9	0.39692	T	0.17	.	4.9782	0.14151	1.0:0.0:0.0:0.0	.	185	Q75WM6	H1FNT_HUMAN	G	185	ENSP00000334805:R185G	ENSP00000334805:R185G	R	+	1	2	H1FNT	47009894	0.001000	0.12720	0.033000	0.17914	0.096000	0.18686	0.519000	0.22862	0.649000	0.30751	0.383000	0.25322	AGG			0.706	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406516.1		NM_181788		G	48723627	A	G	48723627	3	3	27	1	0	0	0	0	1	0	0	0	6936	179	7	4	555	4	H1FNT	12	48723627	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	37479011	48723627	85128268	58	1840											
RPH3A	22895	broad.mit.edu	37	chr12	113319619	113319619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggcttggctgatccctacGttaagctgcacctcctgccg	6	10	10	15	3	0	1	0	1	0	0	2	1	2	1	4	2	4	5	4	2	2	3	rs368476874	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:113319619G>T	ENST00000389385.4	+	15	1791	c.1294G>T	c.(1294-1296)Gtt>Ttt	p.V432F	RPH3A_ENST00000420983.2_Missense_Mutation_p.V432F|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.V383F|RPH3A_ENST00000447659.2_Missense_Mutation_p.V383F|RPH3A_ENST00000543106.2_Missense_Mutation_p.V432F|RPH3A_ENST00000551052.1_Missense_Mutation_p.V428F|RPH3A_ENST00000415485.3_Missense_Mutation_p.V432F	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	432	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGATCCCTACGTTAAGCTGCA	0.607																																					p.V432F													.	RPH3A	98		0			c.G1294T												101	94	96					12																	113319619		2203	4300	6503	SO:0001583	missense	22895	exon15			CCCTACGTTAAGC	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1294G>T	12.37:g.113319619G>T	ENSP00000374036:p.Val432Phe		96	0.0104166667	1		108	0.04	4	NM_001143854	0		0	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944030	0.92593	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.34	5.34	0.76211	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.53938	D	0.000042	T	0.64271	0.2583	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75569	-0.3272	10	0.87932	D	0	.	17.8422	0.88718	0.0:0.0:1.0:0.0	.	383;432;432;428	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	F	432;432;383;428;432;383;432;84;84	ENSP00000440384:V432F;ENSP00000374036:V432F;ENSP00000413254:V383F;ENSP00000448297:V428F;ENSP00000405357:V432F;ENSP00000450347:V383F;ENSP00000408889:V432F	ENSP00000374036:V432F	V	+	1	0	RPH3A	111804002	1.000000	0.71417	0.948000	0.38648	0.972000	0.66771	7.597000	0.82733	2.507000	0.84556	0.561000	0.74099	GTT			0.607	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000405561.1		NM_014954		T	113319619	G	T	113319619	3	4	27	1	0	0	0	0	1	0	0	0	13574	1145	40	1	1344	1	RPH3A	12	113319619	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	64595992	113319619	20532276	59	1841											
NCOR2	9612	ucsc.edu	37	chr12	124887067	124887067	+	Missense_Mutation	SNP	T	T	G																															tgcggggcatgggctgctgcTgctgctgctgctgctgctgc																								rs559681337	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:124887067T>G	ENST00000405201.1	-	14	1523	c.1523A>C	c.(1522-1524)cAg>cCg	p.Q508P	NCOR2_ENST00000404121.2_Missense_Mutation_p.Q78P|NCOR2_ENST00000356219.3_Missense_Mutation_p.Q508P|NCOR2_ENST00000397355.1_Missense_Mutation_p.Q508P|NCOR2_ENST00000429285.2_Missense_Mutation_p.Q507P|NCOR2_ENST00000404621.1_Missense_Mutation_p.Q507P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	508	Poly-Gln.				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)		GGgctgctgctgctgctgctg	0.622																																					p.Q508P													.	NCOR2	475		0			c.A1523C												15	18	17					12																	124887067		2075	4203	6278	SO:0001583	missense	9612	exon16			TGCTGCTGCTGCT	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.1523A>C	12.37:g.124887067T>G	ENSP00000384018:p.Gln508Pro		53	0	0		77	0.06	5	NM_006312	49	0.02	1	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	1.083	-0.666393	0.03428	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;1.93;3.41;1.93;0.67	1.39	0.0765	0.14403	.	1.309660	0.05402	N	0.540872	T	0.59702	0.2213	L	0.29908	0.895	0.23126	N	0.998251	P;P;P	0.47106	0.824;0.824;0.89	P;P;P	0.52554	0.507;0.507;0.702	T	0.51655	-0.8678	10	0.72032	D	0.01	-23.6036	5.6093	0.17396	0.0:0.0:0.2803:0.7197	.	507;508;508	C9J0Q5;C9J239;C9JFD3	.;.;.	P	508;507;508;508;508;78;507;508	ENSP00000384018:Q508P;ENSP00000384202:Q507P;ENSP00000348551:Q508P;ENSP00000380513:Q508P;ENSP00000385618:Q78P;ENSP00000400281:Q507P;ENSP00000402808:Q508P	ENSP00000348551:Q508P	Q	-	2	0	NCOR2	123453020	0.951000	0.32395	1.000000	0.80357	0.339000	0.28857	-1.312000	0.02720	0.049000	0.15920	-2.418000	0.00219	CAG			0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312		G	124887067	T	G	124887067	3	3	27	1	0	0	0	0	1	0	0	0	10253	1580	55	4	6181	4	NCOR2	12	124887067	Missense_Mutation	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	11567448	124887067	8964828	60	1842	2	3									
NCOR2	9612	broad.mit.edu;mdanderson.org	37	chr12	124887070	124887070	+	Missense_Mutation	SNP	T	T	G																															ggggcatgggctgctgctgcTgctgctgctgctgctgctgc																										TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:124887070T>G	ENST00000405201.1	-	14	1520	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	NCOR2_ENST00000404121.2_Missense_Mutation_p.Q77P|NCOR2_ENST00000356219.3_Missense_Mutation_p.Q507P|NCOR2_ENST00000397355.1_Missense_Mutation_p.Q507P|NCOR2_ENST00000429285.2_Missense_Mutation_p.Q506P|NCOR2_ENST00000404621.1_Missense_Mutation_p.Q506P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	507	Poly-Gln.				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)		ctgctgctgctgctgctgctg	0.612																																					p.Q507P													.	NCOR2	475		0			c.A1520C												14	17	16					12																	124887070		2069	4200	6269	SO:0001583	missense	9612	exon16			TGCTGCTGCTGCT	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.1520A>C	12.37:g.124887070T>G	ENSP00000384018:p.Gln507Pro		56	0	0		78	0.05	4	NM_006312	52	0	0	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	2.152	-0.394260	0.04899	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;1.9;3.45;1.9;0.68	1.93	1.93	0.25924	.	2.540960	0.01282	N	0.009774	T	0.62466	0.2430	L	0.29908	0.895	0.28785	N	0.899603	P;P;P	0.47106	0.824;0.824;0.89	P;P;P	0.52554	0.507;0.507;0.702	T	0.53229	-0.8468	10	0.49607	T	0.09	-3.4784	5.9047	0.18986	0.0:0.0:0.0:1.0	.	506;507;507	C9J0Q5;C9J239;C9JFD3	.;.;.	P	507;506;507;507;507;77;506;507	ENSP00000384018:Q507P;ENSP00000384202:Q506P;ENSP00000348551:Q507P;ENSP00000380513:Q507P;ENSP00000385618:Q77P;ENSP00000400281:Q506P;ENSP00000402808:Q507P	ENSP00000348551:Q507P	Q	-	2	0	NCOR2	123453023	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	0.115000	0.15540	0.937000	0.37394	0.055000	0.15244	CAG			0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312		G	124887070	T	G	124887070	3	3	27	1	0	0	0	0	1	0	0	0	10253	1580	55	4	6184	4	NCOR2	12	124887070	Missense_Mutation	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	3	124887070	8964825	61	1843	2	3									
NCOR2	9612	ucsc.edu	37	chr12	124887073	124887073	+	Missense_Mutation	SNP	T	T	G																															gcatgggctgctgctgctgcTgctgctgctgctgctgctgc																										TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:124887073T>G	ENST00000405201.1	-	14	1517	c.1517A>C	c.(1516-1518)cAg>cCg	p.Q506P	NCOR2_ENST00000404121.2_Missense_Mutation_p.Q76P|NCOR2_ENST00000356219.3_Missense_Mutation_p.Q506P|NCOR2_ENST00000397355.1_Missense_Mutation_p.Q506P|NCOR2_ENST00000429285.2_Missense_Mutation_p.Q505P|NCOR2_ENST00000404621.1_Missense_Mutation_p.Q505P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	506	Poly-Gln.				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)		ctgctgctgctgctgctgctg	0.617																																					p.Q506P													.	NCOR2	475		0			c.A1517C												12	15	14					12																	124887073		2067	4198	6265	SO:0001583	missense	9612	exon16			TGCTGCTGCTGCT	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.1517A>C	12.37:g.124887073T>G	ENSP00000384018:p.Gln506Pro		50	0.02	1		77	0.09	7	NM_006312	49	0.14	7	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	2.036	-0.421156	0.04734	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	1.95	1.95	0.26073	.	1.969200	0.02201	N	0.062307	T	0.29028	0.0721	N	0.11427	0.14	0.33633	D	0.606264	P;P;P	0.47106	0.824;0.824;0.89	P;P;P	0.52554	0.507;0.507;0.702	T	0.36212	-0.9757	10	0.59425	D	0.04	-5.8127	5.9401	0.19187	0.0:0.0:0.0:1.0	.	505;506;506	C9J0Q5;C9J239;C9JFD3	.;.;.	P	506;505;506;506;506;76;505;506	ENSP00000384018:Q506P;ENSP00000384202:Q505P;ENSP00000348551:Q506P;ENSP00000380513:Q506P;ENSP00000385618:Q76P;ENSP00000400281:Q505P;ENSP00000402808:Q506P	ENSP00000348551:Q506P	Q	-	2	0	NCOR2	123453026	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	1.016000	0.29976	0.946000	0.37632	0.102000	0.15555	CAG			0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312		G	124887073	T	G	124887073	3	3	27	1	0	0	0	0	1	0	0	0	10253	1580	55	4	6187	4	NCOR2	12	124887073	Missense_Mutation	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	3	124887073	8964822	62	1844	2	3									
LATS2	26524	broad.mit.edu	37	chr13	21562482	21562483	+	In_Frame_Ins	INS	-	-	GGGGCG																															cgtccaagccctccgcagccINSggggcgggggcgggggcggg																								rs56252009|rs550642106	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr13:21562482_21562483insGGGGCG	ENST00000382592.4	-	4	1841_1842	c.1436_1437insCGCCCC	c.(1435-1437)ccg>ccCGCCCCg	p.479_479P>PAP	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_In_Frame_Ins_p.479_479P>PAP	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)		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)		CCTCCGCAgccggggcgggggc	0.787														1274	0.254393	0.1566	0.3429	5008	,	,		6446	0.2133		0.338	False		,,,				2504	0.2802				p.P479delinsPAP													.	LATS2	176		3	Deletion - In frame(2)|Insertion - In frame(1)	breast(2)|pancreas(1)	c.1437_1438insCGCCCC									22,194		10,2,96						-10.2	0		dbSNP_119	2	119,543		56,7,268	no	coding	LATS2	NM_014572.2		66,9,364	A1A1,A1R,RR		17.9758,10.1852,16.0592				141,737				SO:0001652	inframe_insertion	26524	exon4			CGCAGCCGGGGCG	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.1431_1436dupCGCCCC	13.37:g.21562483_21562488dupGGGGCG	ENSP00000372035:p.AlaPro479dup		3	0	0		8	0.38	3	NM_014572	1	0	0		In_Frame_Ins	INS	ENST00000382592.4	37	CCDS9294.1																																																																																					0.787	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044102.1				GGGGCG	21562483	-	GGGGCG	21562482	7	5	27	1	0	1	1	0	0	0	0	0	8662	639	23	0	1849	0	LATS2	13	21562482	In_Frame_Ins	INS	-	TCGA-2G-AAGE-01A-21D-A42Y-10		21562482	93607396	63	1845											
MYH7	4625	hgsc.bcm.edu;broad.mit.edu	37	chr14	23885334	23885334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcttcttcaccctcaggGcctcgttgcggctgcgtgtc	2	14	10	15	3	5	0	2	0	3	0	7	0	5	0	2	2	2	2	2	2	0	4			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr14:23885334G>A	ENST00000355349.3	-	34	4994	c.4832C>T	c.(4831-4833)gCc>gTc	p.A1611V	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1611					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)	p.A1611V(1)		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)		CACCCTCAGGGCCTCGTTGCG	0.617																																					p.A1611V													MYH7,NS,carcinoma,0,1	MYH7	0	1	1	Substitution - Missense(1)	endometrium(1)	c.C4832T												178	140	153					14																	23885334		2203	4300	6503	SO:0001583	missense	4625	exon34			CTCAGGGCCTCGT	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.4832C>T	14.37:g.23885334G>A	ENSP00000347507:p.Ala1611Val		123	0.0081300813	1		119	0.05	6	NM_000257	0		0	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644954	0.67358	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78364	-1.17	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	T	0.81866	0.4913	M	0.85041	2.73	0.80722	D	1	B	0.10296	0.003	B	0.23574	0.047	T	0.81521	-0.0895	9	0.62326	D	0.03	.	17.8682	0.88803	0.0:0.0:1.0:0.0	.	1611	P12883	MYH7_HUMAN	V	1611;1616	ENSP00000347507:A1611V	ENSP00000347507:A1611V	A	-	2	0	MYH7	22955174	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.141000	0.77330	2.537000	0.85549	0.655000	0.94253	GCC			0.617	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071798.3		NM_000257		A	23885334	G	A	23885334	3	1	27	1	0	0	0	0	1	0	0	0	10055	1203	42	2	1003	2	MYH7	14	23885334	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		23885334	83464206	64	1846											
DHRS4L1	728635	broad.mit.edu;mdanderson.org	37	chr14	24507059	24507059	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggccacgctgcagggggAggggctgagcatgacgggca	8	4	20	9	2	0	2	0	2	0	0	0	3	0	3	1	6	2	5	1	6	0	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr14:24507059A>G	ENST00000558293.1	+	0	176					NR_102693.1																						CTGCAGGGGGAGGGGCTGAGC	0.662																																					p.E79G													.	.			0			c.A236G												33	34	34					14																	24507059		2203	4300	6503			728635	exon2			AGGGGGAGGGGCT																													14.37:g.24507059A>G			135	0.0074074074	1		143	0.03	5	NM_001082488	1	0	0		RNA	SNP	ENST00000558293.1	37		.	.	.	.	.	.	.	.	.	.	-	11.70	1.716952	0.30413	.	.	ENSG00000225766	ENST00000397065	.	.	.	3.32	3.32	0.38043	NAD(P)-binding domain (1);	.	.	.	.	T	0.62270	0.2414	L	0.56280	1.765	.	.	.	D	0.58268	0.982	D	0.64877	0.93	T	0.69379	-0.5161	7	0.39692	T	0.17	.	10.004	0.41946	1.0:0.0:0.0:0.0	.	79	P0CG22	DR4L1_HUMAN	G	79	.	ENSP00000380255:E79G	E	+	2	0	AL136295.1	23576899	1.000000	0.71417	0.967000	0.41034	0.337000	0.28794	5.777000	0.68931	1.519000	0.48950	0.329000	0.21502	GAG			0.662	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000417272.1				G	24507059	A	G	24507059	1	3	27	0	1	0	0	0	0	0	0	0	4498	304	11	4		4	DHRS4L1	14	24507059	RNA	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	621725	24507059	82842481	65	1847											
KIAA1409	57578	broad.mit.edu	37	chr14	94060039	94060039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctagcctgtggagggtcGtcaaatccgagttctctcag	7	11	11	12	2	3	0	2	0	1	0	7	2	5	1	3	2	1	1	3	2	2	2	rs370246949		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr14:94060039G>A	ENST00000393151.2	+	23	3046	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	UNC79_ENST00000256339.4_Missense_Mutation_p.V839I|UNC79_ENST00000555664.1_Missense_Mutation_p.V1016I|UNC79_ENST00000553484.1_Missense_Mutation_p.V1016I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1016					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						GTGGAGGGTCGTCAAATCCGA	0.468																																					p.V839I													.	UNC79	366		0			c.G2515A							G	ILE/VAL	0,4406		0,0,2203	236	204	215		2515	1	1	14		215	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC79	NM_020818.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	839/2459	94060039	1,13005	2203	4300	6503	SO:0001583	missense	57578	exon23			AGGGTCGTCAAAT	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.3046G>A	14.37:g.94060039G>A	ENSP00000376858:p.Val1016Ile		194	0.0103092784	2		223	0.02	4	NM_020818	0		0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	10.61	1.399661	0.25291	0.0	1.16E-4	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17691	2.28;2.28;2.26;2.28	5.53	1.01	0.19927	.	0.376195	0.25086	N	0.033248	T	0.06554	0.0168	N	0.08118	0	0.22552	N	0.998997	B	0.10296	0.003	B	0.09377	0.004	T	0.41288	-0.9517	10	0.12103	T	0.63	-7.6859	7.3012	0.26422	0.2606:0.2158:0.5235:0.0	.	1016	C9JQL1	.	I	839;1016;1016;1016;1016	ENSP00000256339:V839I;ENSP00000450868:V1016I;ENSP00000451360:V1016I;ENSP00000376858:V1016I	ENSP00000256339:V839I	V	+	1	0	KIAA1409	93129792	0.296000	0.24398	0.991000	0.47740	0.913000	0.54294	0.773000	0.26661	0.289000	0.22422	0.557000	0.71058	GTC			0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000412766.1		XM_028395		A	94060039	G	A	94060039	3	1	27	1	0	0	0	0	1	0	0	0	8245	1145	40	1	2593	1	KIAA1409	14	94060039	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	69552980	94060039	13289501	66	1848											
TUBGCP4	27229	mdanderson.org	37	chr15	43678501	43678501	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggactttgaacaggtggtGgatcgcattcgcagcactgt	8	11	14	8	2	0	1	0	1	0	0	2	3	0	3	0	4	2	3	0	4	1	2	rs372242208		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr15:43678501G>T	ENST00000260383.7	+	9	1241	c.987G>T	c.(985-987)gtG>gtT	p.V329V	TUBGCP4_ENST00000399460.3_Silent_p.V193V|TUBGCP4_ENST00000564079.1_Silent_p.V329V			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	329					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)		AACAGGTGGTGGATCGCATTC	0.368																																					p.V329V													.	.			0			c.G987T												97	88	91					15																	43678501		1935	4137	6072	SO:0001819	synonymous_variant	27229	exon9			GGTGGTGGATCGC	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.987G>T	15.37:g.43678501G>T			61	0	0		107	0.04	4	NM_014444	24	0	0	B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37																																																																																						0.368	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000432970.1		NM_014444		T	43678501	G	T	43678501	2	4	27	1	0	0	0	0	0	0	0	1	16792	1335	47	3		3	TUBGCP4	15	43678501	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		43678501	58852891	67	1849											
DET1	55070	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	89056263	89056263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatagcgaaaggctcaaaAgggtgaaaggtgaaggcaac	18	4	14	5	1	1	2	1	2	0	0	1	4	1	2	0	4	2	2	0	4	8	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr15:89056263A>G	ENST00000268148.8	-	5	1717	c.1572T>C	c.(1570-1572)ccT>ccC	p.P524P	DET1_ENST00000564406.1_Silent_p.P535P|DET1_ENST00000444300.1_Silent_p.P535P|RP11-97O12.7_ENST00000606219.1_RNA	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	524						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AAGGCTCAAAAGGGTGAAAGG	0.552																																					p.P535P													.	DET1	55		0			c.T1605C												89	87	88					15																	89056263		2014	4177	6191	SO:0001819	synonymous_variant	55070	exon6			CTCAAAAGGGTGA	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1572T>C	15.37:g.89056263A>G			151	0.0066225166	1		175	0.03	6	NM_017996	22	0	0	B3KNN6|Q2VPC0|Q9NWD5	Silent	SNP	ENST00000268148.8	37	CCDS45344.1																																																																																					0.552	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415442.2		NM_017996		G	89056263	A	G	89056263	2	3	27	1	0	0	0	0	0	0	0	1	4455	59	3	4		4	DET1	15	89056263	Silent	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	45377762	89056263	13475129	68	1850											
SLCO3A1	28232	mdanderson.org	37	chr15	92459545	92459545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaccccgacctcatctgccGcaaccggacggctaccaaca	10	4	8	19	5	2	0	1	0	1	0	2	3	2	1	6	2	4	2	6	2	3	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr15:92459545G>T	ENST00000318445.6	+	2	717	c.503G>T	c.(502-504)cGc>cTc	p.R168L	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	168				R -> L (in Ref. 7; AAH00585). {ECO:0000305}.	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)	CTCATCTGCCGCAACCGGACG	0.701																																					p.R168L													SLCO3A1,NS,malignant_melanoma,0,1	SLCO3A1	0	1	0			c.G503T												18	16	17					15																	92459545		2190	4289	6479	SO:0001583	missense	28232	exon2			TCTGCCGCAACCG	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.503G>T	15.37:g.92459545G>T	ENSP00000320634:p.Arg168Leu		50	0	0		58	0.05	3	NM_013272	6	0	0	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701060	0.48307	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.39229	1.09;1.09;1.09	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.639808	0.16773	N	0.200114	T	0.28466	0.0704	N	0.10972	0.075	0.80722	D	1	B;B;P	0.39940	0.312;0.369;0.696	B;B;B	0.37780	0.041;0.066;0.258	T	0.13388	-1.0511	10	0.32370	T	0.25	.	18.0315	0.89286	0.0:0.0:1.0:0.0	.	110;168;168	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	L	168;168;110	ENSP00000320634:R168L;ENSP00000387846:R168L;ENSP00000450559:R110L	ENSP00000320634:R168L	R	+	2	0	SLCO3A1	90260549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.999000	0.63934	2.510000	0.84645	0.655000	0.94253	CGC			0.701	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313529.1		NM_013272		T	92459545	G	T	92459545	3	4	27	1	0	0	0	0	1	0	0	0	14751	1087	38	1	509	1	SLCO3A1	15	92459545	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	3403282	92459545	10071847	69	1851											
SOLH	6650	mdanderson.org	37	chr16	597600	597600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacgcgaggttcccccccaGctgcagccaccggtgcctga	6	5	12	18	4	0	1	0	1	0	0	1	3	1	1	6	2	4	3	6	2	0	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr16:597600G>T	ENST00000219611.2	+	4	1125	c.762G>T	c.(760-762)caG>caT	p.Q254H	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	254					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)										TTCCCCCCCAGCTGCAGCCAC	0.746																																					p.Q254H													.	.			0			c.G762T												7	11	10					16																	597600		1867	3890	5757	SO:0001583	missense	6650	exon4			CCCCCAGCTGCAG	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.762G>T	16.37:g.597600G>T	ENSP00000219611:p.Gln254His		15	0	0		19	0.11	2	NM_005632	28	0	0	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	11.69	1.712525	0.30322	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.89196	-2.48	5.0	4.04	0.47022	.	2.246270	0.01715	N	0.027966	D	0.87688	0.6240	L	0.32530	0.975	0.26149	N	0.980178	D	0.56521	0.976	P	0.47744	0.556	T	0.75243	-0.3386	10	0.38643	T	0.18	.	9.3053	0.37872	0.1009:0.0:0.8991:0.0	.	254	O75808	CAN15_HUMAN	H	254	ENSP00000219611:Q254H	ENSP00000219611:Q254H	Q	+	3	2	SOLH	537601	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	2.305000	0.43664	1.111000	0.41721	0.556000	0.70494	CAG			0.746	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239271.1		NM_005632		T	597600	G	T	597600	3	4	27	1	0	0	0	0	1	0	0	0	14948	962	34	2	764	2	SOLH	16	597600	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		597600	89757153	70	1852											
SRRM2	23524	mdanderson.org	37	chr16	2817298	2817298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccaacagcagtgaacctgGctgactctcgaacgccagct	10	8	9	14	2	1	2	0	2	1	0	3	3	2	2	3	1	5	3	3	1	3	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr16:2817298G>T	ENST00000301740.8	+	11	7318	c.6769G>T	c.(6769-6771)Gct>Tct	p.A2257S	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2257	Ala-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						AGTGAACCTGGCTGACTCTCG	0.632																																					p.A2257S													.	.			0			c.G6769T												67	70	69					16																	2817298		2198	4300	6498	SO:0001583	missense	23524	exon11			AACCTGGCTGACT	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.6769G>T	16.37:g.2817298G>T	ENSP00000301740:p.Ala2257Ser		49	0.0612244898	3		64	0.14	9	NM_016333	428	0.03	14	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	9.588	1.125326	0.20959	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.80033	-1.33	5.82	4.84	0.62591	.	0.089887	0.48767	D	0.000165	T	0.71151	0.3306	L	0.34521	1.04	0.30120	N	0.805738	P	0.40970	0.734	B	0.37731	0.257	T	0.71069	-0.4699	10	0.44086	T	0.13	-6.9946	12.7961	0.57560	0.0:0.1642:0.8358:0.0	.	2257	Q9UQ35	SRRM2_HUMAN	S	2257;1509	ENSP00000301740:A2257S	ENSP00000301740:A2257S	A	+	1	0	SRRM2	2757299	1.000000	0.71417	0.976000	0.42696	0.402000	0.30811	1.924000	0.40065	1.423000	0.47198	0.655000	0.94253	GCT			0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436411.1				T	2817298	G	T	2817298	3	4	27	1	0	0	0	0	1	0	0	0	15192	1203	42	2	6807	2	SRRM2	16	2817298	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	2219698	2817298	87537455	71	1853											
CMTM2	146225	broad.mit.edu	37	chr16	66621965	66621965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagggcaagggaccagaAcccgccaagccaccagaacc	14	0	11	16	1	0	2	0	0	0	2	0	3	0	3	6	2	4	2	6	2	4	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr16:66621965A>C	ENST00000268595.2	+	4	841	c.690A>C	c.(688-690)gaA>gaC	p.E230D	CMTM2_ENST00000379486.2_Missense_Mutation_p.E177D	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	230					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E230E(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AGGGACCAGAACCCGCCAAGC	0.532																																					p.E230D													CMTM2,trunk,malignant_melanoma,+2,2	CMTM2	33	2	1	Substitution - coding silent(1)	skin(1)	c.A690C												59	63	62					16																	66621965		2201	4300	6501	SO:0001583	missense	146225	exon4			ACCAGAACCCGCC	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.690A>C	16.37:g.66621965A>C	ENSP00000268595:p.Glu230Asp		64	0.203125	13		91	0.19	17	NM_144673	2	0	0	Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	A	6.993	0.553395	0.13374	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.55588	0.51;1.08	3.13	-6.26	0.02033	.	1.598980	0.03989	N	0.294567	T	0.33556	0.0867	L	0.36672	1.1	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.006	T	0.12993	-1.0526	10	0.18710	T	0.47	-5.6888	1.832	0.03132	0.3986:0.3098:0.1712:0.1203	.	177;230	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	D	177;230	ENSP00000368800:E177D;ENSP00000268595:E230D	ENSP00000268595:E230D	E	+	3	2	CMTM2	65179466	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.306000	0.02735	-2.061000	0.00892	-0.442000	0.05670	GAA			0.532	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268808.1				C	66621965	A	C	66621965	3	2	27	1	0	0	0	0	1	0	0	0	3585	40	2	4	704	4	CMTM2	16	66621965	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	63804667	66621965	23732788	72	1854											
THAP11	57215	broad.mit.edu	37	chr16	67876781	67876781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcagcagcagcaacaGcagcagcagcagcaacagca	15	0	12	14	1	0	0	0	0	0	0	0	0	0	0	0	1	11	11	0	1	2	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr16:67876781G>A	ENST00000303596.1	+	1	569	c.324G>A	c.(322-324)caG>caA	p.Q108Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	108	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.682																																					p.Q108Q													.	THAP11	27		0			c.G324A												13	17	15					16																	67876781		2002	3990	5992	SO:0001819	synonymous_variant	57215	exon1			GCAACAGCAGCAG	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.324G>A	16.37:g.67876781G>A			41	0.0243902439	1		67	0.04	3	NM_020457	60	0	0	A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	CCDS10847.1																																																																																					0.682	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268879.1		NM_020457		A	67876781	G	A	67876781	2	1	27	1	0	0	0	0	0	0	0	1	15866	962	34	2		2	THAP11	16	67876781	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	1254816	67876781	22477972	73	1855											
ARRB2	409	broad.mit.edu	37	chr17	4619841	4619841	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccaccccggccccccAcccgcctgcaggaccggctg	6	2	9	24	3	0	0	0	0	0	0	0	1	0	1	10	3	2	2	10	3	1	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:4619841A>C	ENST00000269260.2	+	5	528	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P|ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P|ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	99					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCGGCCCCCCACCCGCCTGCA	0.682																																					p.T99P													.	ARRB2	30		0			c.A295C																																									SO:0001583	missense	409	exon5			CCCCCCACCCGCC		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.295A>C	17.37:g.4619841A>C	ENSP00000269260:p.Thr99Pro		27	0.0740740741	2		48	0.17	8	NM_001257329	30	0	0	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340849	0.81911	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.23147	1.92;1.92	4.84	4.84	0.62591	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.051921	0.85682	D	0.000000	T	0.60612	0.2282	H	0.94222	3.51	0.80722	D	1	D;D;D;B;D	0.76494	0.999;0.974;0.99;0.26;0.963	D;P;D;B;P	0.77004	0.989;0.816;0.912;0.089;0.884	T	0.71951	-0.4437	10	0.87932	D	0	-9.8224	12.4157	0.55492	1.0:0.0:0.0:0.0	.	99;84;99;84;99	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	P	99;99;84;100	ENSP00000269260:T99P;ENSP00000341895:T84P	ENSP00000269260:T99P	T	+	1	0	ARRB2	4566590	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.916000	0.75776	2.050000	0.60909	0.460000	0.39030	ACC			0.682	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439552.1		NM_004313		C	4619841	A	C	4619841	3	2	27	1	0	0	0	0	1	0	0	0	981	159	6	4	313	4	ARRB2	17	4619841	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10		4619841	76575369	74	1856											
PITPNM3	83394	mdanderson.org	37	chr17	6381975	6381975	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtactgcggggaggagatGgccaacaggggaagggcggc	9	4	21	7	2	0	1	0	0	0	1	0	4	0	3	1	9	3	1	1	9	3	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:6381975G>T	ENST00000262483.8	-	7	756	c.669C>A	c.(667-669)gcC>gcA	p.A223A	PITPNM3_ENST00000421306.3_Silent_p.A187A	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	223					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)		GGGAGGAGATGGCCAACAGGG	0.627																																					p.A223A													.	.			0			c.C669A												61	50	54					17																	6381975		2203	4300	6503	SO:0001819	synonymous_variant	83394	exon7			GGAGATGGCCAAC	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.669C>A	17.37:g.6381975G>T			64	0	0		58	0.05	3	NM_031220	3	0	0	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																					0.627	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000219824.2		NM_031220		T	6381975	G	T	6381975	2	4	27	1	0	0	0	0	0	0	0	1	11969	1335	47	3		3	PITPNM3	17	6381975	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	1762134	6381975	74813235	75	1857											
CCDC144B	348254	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr17	18528523	18528523	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtggagctcgccaagatCttccaggcggacgtcgtgct	6	10	13	12	4	2	1	0	0	2	1	5	3	3	3	2	3	2	2	2	3	1	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:18528523C>T								CCDC144B (18819 upstream) : TBC1D28 (9795 downstream)																							TCGCCAAGATCTTCCAGGCGG	0.632																																					.													.	.			0			.												43	52	49					17																	18528523		2203	4294	6497	SO:0001628	intergenic_variant	284047	.			CAAGATCTTCCAG																													17.37:g.18528523C>T			169	0	0		231	0.29	67	.	2	0	0		RNA	SNP		37																																																																																					0	0.632											T	18528523	C	T	18528523	1	4	27	0	1	0	0	0	0	0	0	0	2780	913	32	3		3	CCDC144B	17	18528523	IGR	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	12146548	18528523	62666687	76	1858											
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29527570	29527570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcaattgggaagataactCtgtcattttcctacttgttc	10	16	6	9	0	3	1	2	0	1	1	5	2	4	2	1	1	2	1	1	1	4	7			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:29527570C>G	ENST00000358273.4	+	9	1402	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	NF1_ENST00000356175.3_Missense_Mutation_p.S340C|NF1_ENST00000431387.4_Missense_Mutation_p.S340C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					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.?(6)	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)		GAAGATAACTCTGTCATTTTC	0.378			"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)																											p.S340C			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.			14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	c.C1019G	GRCh37	CD972347	NF1	D								119	106	110					17																	29527570		2203	4300	6503	SO:0001583	missense	4763	exon9	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	ATAACTCTGTCAT		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.1019C>G	17.37:g.29527570C>G	ENSP00000351015:p.Ser340Cys		59	0	0		78	0.27	21	NM_001128147	3	0.67	2	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310687	0.81358	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.67171	2.73;-0.25;-0.25;2.88	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81093	0.4751	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;D;D;D;D	0.79784	0.864;0.992;0.922;0.993;0.993	T	0.80781	-0.1229	10	0.48119	T	0.1	.	19.1503	0.93485	0.0:1.0:0.0:0.0	.	340;340;340;340;340	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	C	340;340;340;6	ENSP00000412921:S340C;ENSP00000351015:S340C;ENSP00000348498:S340C;ENSP00000389907:S6C	ENSP00000348498:S340C	S	+	2	0	NF1	26551696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.182000	0.77689	2.542000	0.85734	0.591000	0.81541	TCT			0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256351.2		NM_000267		G	29527570	C	G	29527570	3	3	27	1	0	0	0	0	1	0	0	0	10373	913	32	5	1053	5	NF1	17	29527570	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	10999047	29527570	51667640	77	1859											
ITGB3	3690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	45376796	45376796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgtgcagcggccgcGgcaagtgtgaatgtggcagc	6	7	18	10	3	0	1	0	1	0	0	0	1	0	1	1	4	4	5	1	4	2	0	rs144884023		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:45376796G>A	ENST00000559488.1	+	11	1829	c.1813G>A	c.(1813-1815)Ggc>Agc	p.G605S	ITGB3_ENST00000560629.1_Missense_Mutation_p.R593Q|ITGB3_ENST00000435993.2_Missense_Mutation_p.G558S	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	605	Cysteine-rich tandem repeats.		G -> S (in GT; type II). {ECO:0000269|PubMed:9790984}.		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)	CAGCGGCCGCGGCAAGTGTGA	0.597																																					p.G605S													.	.			0			c.G1813A	GRCh37	CM981082	ITGB3	M	rs144884023		G	SER/GLY	0,4406		0,0,2203	78	75	76		1813	5.8	1	17	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGB3	NM_000212.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	605/789	45376796	1,13005	2203	4300	6503	SO:0001583	missense	3690	exon11			GGCCGCGGCAAGT		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.1813G>A	17.37:g.45376796G>A	ENSP00000452786:p.Gly605Ser		105	0	0		143	0.26	37	NM_000212	1	0	0	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595261	0.96602	0.0	1.16E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.97089	-4.24	5.84	5.84	0.93424	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99445	1.0939	10	0.87932	D	0	.	18.9005	0.92440	0.0:0.0:1.0:0.0	.	605	P05106	ITB3_HUMAN	S	605;558	ENSP00000407801:G558S	ENSP00000262017:G605S	G	+	1	0	C17orf57	42731795	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.822000	0.99363	2.770000	0.95276	0.555000	0.69702	GGC	0		0.597	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416111.3		NM_000212		A	45376796	G	A	45376796	3	1	27	1	0	0	0	0	1	0	0	0	7910	1116	39	1	1855	1	ITGB3	17	45376796	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	15849226	45376796	35818414	78	1860											
SLC16A6	9120	broad.mit.edu	37	chr17	66270087	66270087	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagatgatgccgatggcGacgtacatatgagaaacctc	13	7	11	10	3	0	3	0	2	0	2	1	7	0	3	3	1	3	1	3	1	3	2	rs201209320	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:66270087G>T	ENST00000327268.4	-	4	521	c.357C>A	c.(355-357)gtC>gtA	p.V119V	SLC16A6_ENST00000580666.1_Silent_p.V119V|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	119					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGCCGATGGCGACGTACATAT	0.502																																					p.V119V													.	SLC16A6	56		0			c.C357A												91	80	84					17																	66270087		2203	4300	6503	SO:0001819	synonymous_variant	9120	exon4			GATGGCGACGTAC	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.357C>A	17.37:g.66270087G>T			101	0	0		120	0.03	4	NM_001174166	2	0	0	Q6P1X3	Silent	SNP	ENST00000327268.4	37	CCDS11675.1																																																																																					0.502	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448323.1		NM_004694		T	66270087	G	T	66270087	2	4	27	1	0	0	0	0	0	0	0	1	14435	1045	37	1		1	SLC16A6	17	66270087	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	20893291	66270087	14925123	79	1861											
KIAA0195	9772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	73484174	73484174	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagacatcatagctttgAggcctggccaggaatcgttt	11	10	12	8	1	1	2	1	1	0	1	2	4	1	3	2	4	1	2	2	4	3	3			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:73484174A>T	ENST00000314256.7	+	6	965	c.571A>T	c.(571-573)Agg>Tgg	p.R191W	KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R201W	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	191						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)			CATAGCTTTGAGGCCTGGCCA	0.557																																					p.R191W													.	.			0			c.A571T												129	103	112					17																	73484174		2203	4300	6503	SO:0001583	missense	9772	exon6			GCTTTGAGGCCTG		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.571A>T	17.37:g.73484174A>T	ENSP00000313885:p.Arg191Trp		104	0	0		147	0.28	41	NM_014738	27	0.26	7	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552674	0.86127	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.52983	0.64;0.64	5.43	3.0	0.34707	.	0.059746	0.64402	D	0.000001	T	0.62245	0.2412	M	0.70595	2.14	0.54753	D	0.999988	D;D	0.67145	0.996;0.993	P;P	0.61874	0.895;0.628	T	0.66056	-0.6018	10	0.87932	D	0	-26.8654	11.7052	0.51593	0.5736:0.4264:0.0:0.0	.	201;191	C9JL75;Q12767	.;K0195_HUMAN	W	191;201	ENSP00000313885:R191W;ENSP00000364397:R201W	ENSP00000313885:R191W	R	+	1	2	KIAA0195	70995769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.488000	0.45276	0.858000	0.35431	0.459000	0.35465	AGG			0.557	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447303.1		NM_014738		T	73484174	A	T	73484174	3	4	27	1	0	0	0	0	1	0	0	0	8175	295	11	5	589	5	KIAA0195	17	73484174	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	7214087	73484174	7711036	80	1862											
ZBTB7C	201501	mdanderson.org	37	chr18	45555801	45555801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgttcctctcagcctccaGctgcgcgcgcccgaacagct	5	7	10	19	6	1	0	1	0	1	0	4	1	3	0	4	0	5	3	4	0	1	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr18:45555801G>T	ENST00000588982.1	-	4	2191	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	ZBTB7C_ENST00000535628.2_Missense_Mutation_p.L564M|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.L564M|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.L564M|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.L564M			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	564							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCAGCCTCCAGCTGCGCGCGC	0.716																																					p.L564M													.	.			0			c.C1690A												9	10	9					18																	45555801		2176	4252	6428	SO:0001583	missense	201501	exon3			CCTCCAGCTGCGC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1690C>A	18.37:g.45555801G>T	ENSP00000468782:p.Leu564Met		20	0	0		20	0.15	3	NM_001039360	0		0	O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971367	0.53614	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.12361	2.69;2.69	4.51	3.61	0.41365	.	0.367893	0.19621	N	0.109912	T	0.08358	0.0208	N	0.19112	0.55	0.32567	N	0.530288	B;B	0.21905	0.062;0.062	B;B	0.16289	0.015;0.015	T	0.07809	-1.0753	10	0.48119	T	0.1	.	6.8888	0.24218	0.0825:0.0:0.6061:0.3114	.	564;564	B2RG49;A1YPR0	.;ZBT7C_HUMAN	M	564	ENSP00000439781:L564M;ENSP00000328732:L564M	ENSP00000328732:L564M	L	-	1	2	ZBTB7C	43809799	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.325000	0.33724	0.843000	0.35070	0.555000	0.69702	CTG			0.716	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450731.1		NM_001039360		T	45555801	G	T	45555801	3	4	27	1	0	0	0	0	1	0	0	0	17578	962	34	2	173	2	ZBTB7C	18	45555801	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		45555801	32521447	81	1863											
CSNK1G2	1455	broad.mit.edu	37	chr19	1969878	1969878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccggagctcggggaccaGctcgggggtcctgatggtgg	5	7	18	11	3	0	1	0	1	0	0	4	3	2	3	3	7	2	2	3	7	0	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:1969878G>T	ENST00000255641.8	+	2	602	c.107G>T	c.(106-108)aGc>aTc	p.S36I		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	36					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		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)		TCGGGGACCAGCTCGGGGGTC	0.677																																					p.S36I	Ovarian(91;880 1392 21236 36928 37598)												.	CSNK1G2	28		0			c.G107T												23	26	25					19																	1969878		2199	4297	6496	SO:0001583	missense	1455	exon2			GGACCAGCTCGGG	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.107G>T	19.37:g.1969878G>T	ENSP00000255641:p.Ser36Ile		39	0.0256410256	1		34	0.09	3	NM_001319	29	0	0	B5BU42|O00704|Q8WUB1	Missense_Mutation	SNP	ENST00000255641.8	37	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	.	15.95	2.984476	0.53934	.	.	ENSG00000133275	ENST00000255641	T	0.59906	0.23	3.99	2.88	0.33553	.	0.065209	0.64402	D	0.000011	T	0.45377	0.1339	L	0.58810	1.83	0.40895	D	0.984108	B	0.32693	0.38	B	0.28139	0.086	T	0.55173	-0.8182	10	0.87932	D	0	.	3.617	0.08081	0.3427:0.0:0.6573:0.0	.	36	P78368	KC1G2_HUMAN	I	36	ENSP00000255641:S36I	ENSP00000255641:S36I	S	+	2	0	CSNK1G2	1920878	1.000000	0.71417	0.992000	0.48379	0.901000	0.52897	6.089000	0.71384	2.068000	0.61886	0.555000	0.69702	AGC			0.677	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449287.1		NM_001319		T	1969878	G	T	1969878	3	4	27	1	0	0	0	0	1	0	0	0	3957	971	34	2	109	2	CSNK1G2	19	1969878	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		1969878	57159105	82	1864											
TMPRSS9	360200	mdanderson.org	37	chr19	2424093	2424093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctcccccgcagactgtgGcctggcgccggccgcgctca	3	6	14	18	5	1	1	1	0	0	1	2	1	2	1	5	4	0	3	5	4	0	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:2424093G>T	ENST00000332578.3	+	14	2453	c.2453G>T	c.(2452-2454)gGc>gTc	p.G818V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	818					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GCAGACTGTGGCCTGGCGCCG	0.761																																					p.G818V													.	.			0			c.G2453T												3	5	4					19																	2424093		1650	3461	5111	SO:0001583	missense	360200	exon14			ACTGTGGCCTGGC	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2453G>T	19.37:g.2424093G>T	ENSP00000330264:p.Gly818Val		15	0	0		20	0.1	2	NM_182973	0		0	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425107	0.62733	.	.	ENSG00000178297	ENST00000332578	D	0.95756	-3.8	4.35	4.35	0.52113	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.64402	D	0.000016	D	0.95847	0.8648	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96542	0.9401	10	0.87932	D	0	.	14.3702	0.66833	0.0:0.0:1.0:0.0	.	818	Q7Z410	TMPS9_HUMAN	V	818	ENSP00000330264:G818V	ENSP00000330264:G818V	G	+	2	0	TMPRSS9	2375093	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	8.097000	0.89539	1.976000	0.57569	0.561000	0.74099	GGC			0.761	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451330.3		NM_182973		T	2424093	G	T	2424093	3	4	27	1	0	0	0	0	1	0	0	0	16276	1203	42	2	2507	2	TMPRSS9	19	2424093	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	454215	2424093	56704890	83	1865											
LRP3	4037	mdanderson.org	37	chr19	33698411	33698411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagagccactgggggtctGcaggaaccccccgcccccct	6	4	12	19	1	1	1	0	0	1	1	1	2	1	2	8	3	3	1	8	3	1	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:33698411G>T	ENST00000253193.7	+	7	2445	c.2243G>T	c.(2242-2244)tGc>tTc	p.C748F	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	748					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTGGGGGTCTGCAGGAACCCC	0.706																																					p.C748F													.	.			0			c.G2243T												8	10	10					19																	33698411		2159	4237	6396	SO:0001583	missense	4037	exon7			GGGTCTGCAGGAA	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.2243G>T	19.37:g.33698411G>T	ENSP00000253193:p.Cys748Phe		23	0	0		18	0.11	2	NM_002333	55	0	0	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782224	0.31502	.	.	ENSG00000130881	ENST00000253193	D	0.87729	-2.29	4.41	3.37	0.38596	.	0.285477	0.30455	N	0.009582	T	0.75620	0.3874	N	0.19112	0.55	0.45318	D	0.99831	P;P	0.35982	0.531;0.531	B;B	0.32864	0.154;0.154	T	0.78329	-0.2246	10	0.66056	D	0.02	-29.664	10.0893	0.42436	0.1022:0.0:0.8978:0.0	.	748;666	O75074;B7ZAJ9	LRP3_HUMAN;.	F	748	ENSP00000253193:C748F	ENSP00000253193:C748F	C	+	2	0	LRP3	38390251	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.766000	0.47629	2.459000	0.83118	0.491000	0.48974	TGC			0.706	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450842.4				T	33698411	G	T	33698411	3	4	27	1	0	0	0	0	1	0	0	0	8974	1319	46	2	2269	2	LRP3	19	33698411	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	31274318	33698411	25430572	84	1866											
ETV2	2116	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	36134398	36134398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgccgggagcaacaccaGctgggactgttctgtggggc	6	6	17	12	2	1	0	0	0	1	0	1	2	1	2	3	5	3	3	3	5	1	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:36134398G>A	ENST00000403402.1	+	4	764	c.458G>A	c.(457-459)aGc>aAc	p.S153N	ETV2_ENST00000379026.2_Missense_Mutation_p.S181N|ETV2_ENST00000402764.2_Missense_Mutation_p.S153N|ETV2_ENST00000479824.1_Missense_Mutation_p.S60N|ETV2_ENST00000379023.4_Intron			O00321	ETV2_HUMAN	ets variant 2	153					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	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)			lung(2)	2	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)			AGCAACACCAGCTGGGACTGT	0.756																																					p.S153N													.	.			0			c.G458A												6	7	7					19																	36134398		1939	3770	5709	SO:0001583	missense	2116	exon5			ACACCAGCTGGGA	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"ets variant gene 2"			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.458G>A	19.37:g.36134398G>A	ENSP00000385369:p.Ser153Asn		90	0	0		105	0.08	8	NM_014209	0		0	A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	g	12.84	2.059427	0.36373	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000403402	T;T;T	0.20463	2.07;2.08;2.08	5.08	-0.973	0.10297	.	1.653120	0.02889	N	0.133853	T	0.10508	0.0257	N	0.14661	0.345	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	0.18116	-1.0347	10	0.15066	T	0.55	.	2.1007	0.03679	0.2642:0.1349:0.4654:0.1355	.	152;181;153	O00321;A6NFN5;B9EIN1	ETV2_HUMAN;.;.	N	181;153;153	ENSP00000368312:S181N;ENSP00000384524:S153N;ENSP00000385369:S153N	ENSP00000368312:S181N	S	+	2	0	ETV2	40826238	0.339000	0.24784	0.481000	0.27354	0.037000	0.13140	0.361000	0.20267	0.038000	0.15604	-1.337000	0.01257	AGC			0.756	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318848.2		XM_209182		A	36134398	G	A	36134398	3	1	27	1	0	0	0	0	1	0	0	0	5285	971	34	2	472	2	ETV2	19	36134398	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	2435987	36134398	22994585	85	1867											
MLL4	9757	mdanderson.org	37	chr19	36213935	36213935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgagagtgtcccgtcaCggtcccggcggggaaaggtg	8	6	17	10	4	1	2	1	1	0	2	3	4	3	3	2	5	0	0	2	5	1	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:36213935C>T	ENST00000222270.7	+	6	2761	c.2761C>T	c.(2761-2763)Cgg>Tgg	p.R921W	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R921W	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	921					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)										TGTCCCGTCACGGTCCCGGCG	0.642																																					p.R921W													.	.			0			c.C2761T												23	29	27					19																	36213935		2016	4160	6176	SO:0001583	missense	8085	exon6			CCGTCACGGTCCC	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.2761C>T	19.37:g.36213935C>T	ENSP00000222270:p.Arg921Trp		47	0	0		51	0.06	3	NM_014727	36	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	9.118	1.008341	0.19199	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84223	-1.82;-1.82	5.82	4.77	0.60923	.	0.212364	0.23692	N	0.045515	T	0.78898	0.4356	L	0.36672	1.1	0.09310	N	1	D	0.61697	0.99	B	0.43623	0.425	T	0.72861	-0.4164	10	0.66056	D	0.02	.	9.6872	0.40105	0.1594:0.6869:0.1537:0.0	.	921	Q9UMN6	MLL4_HUMAN	W	921	ENSP00000222270:R921W;ENSP00000398837:R921W	ENSP00000222270:R921W	R	+	1	2	AD000671.1	40905775	0.000000	0.05858	0.781000	0.31783	0.911000	0.54048	0.517000	0.22832	1.429000	0.47314	0.655000	0.94253	CGG			0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_014727		T	36213935	C	T	36213935	3	4	27	1	0	0	0	0	1	0	0	0	9639	527	19	1	2783	1	MLL4	19	36213935	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	79537	36213935	22915048	86	1868											
RYR1	6261	mdanderson.org	37	chr19	38956756	38956756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgagcaatgggtacaagCcggctccgctggacctgagc	9	7	14	11	2	0	3	0	3	0	0	1	4	1	4	3	3	4	4	3	3	3	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:38956756C>A	ENST00000359596.3	+	24	2896	c.2896C>A	c.(2896-2898)Ccg>Acg	p.P966T	RYR1_ENST00000360985.3_Missense_Mutation_p.P966T|RYR1_ENST00000355481.4_Missense_Mutation_p.P966T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	966	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)	TGGGTACAAGCCGGCTCCGCT	0.632																																					p.P966T													.	.			0			c.C2896A												21	24	23					19																	38956756		2199	4297	6496	SO:0001583	missense	6261	exon24			TACAAGCCGGCTC	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.2896C>A	19.37:g.38956756C>A	ENSP00000352608:p.Pro966Thr		34	0	0		24	0.13	3	NM_001042723	2	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	17.29	3.351284	0.61183	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98666	-5.06;-5.06;-5.06	3.8	3.8	0.43715	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.99306	0.9757	M	0.93854	3.465	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98648	1.0678	10	0.87932	D	0	.	15.5405	0.76039	0.0:1.0:0.0:0.0	.	966;966	P21817-2;P21817	.;RYR1_HUMAN	T	966	ENSP00000352608:P966T;ENSP00000347667:P966T;ENSP00000354254:P966T	ENSP00000347667:P966T	P	+	1	0	RYR1	43648596	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.412000	0.80091	1.988000	0.58038	0.444000	0.29173	CCG			0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462137.1				A	38956756	C	A	38956756	3	1	27	1	0	0	0	0	1	0	0	0	13791	739	26	2	2990	2	RYR1	19	38956756	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	2742821	38956756	20172227	87	1869											
SUPT5H	6829	mdanderson.org	37	chr19	39964105	39964105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgcccctgcatgatggcagCcgcactcctgcccagagtgg	7	6	12	16	2	0	2	0	1	0	1	1	2	1	2	5	2	3	3	5	2	0	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:39964105C>T	ENST00000599117.1	+	26	2803	c.2436C>T	c.(2434-2436)agC>agT	p.S812S	SUPT5H_ENST00000432763.2_Silent_p.S812S|SUPT5H_ENST00000598725.1_Silent_p.S812S|SUPT5H_ENST00000359191.6_Silent_p.S808S|SUPT5H_ENST00000402194.2_Silent_p.S808S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	812	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGATGGCAGCCGCACTCCTG	0.632																																					p.S812S													.	.			0			c.C2436T												78	76	77					19																	39964105		2203	4300	6503	SO:0001819	synonymous_variant	6829	exon25			TGGCAGCCGCACT	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2436C>T	19.37:g.39964105C>T			44	0	0		43	0.07	3	NM_001111020	180	0	0	O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	CCDS12536.1																																																																																					0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000464918.1		NM_003169		T	39964105	C	T	39964105	2	4	27	1	0	0	0	0	0	0	0	1	15422	738	26	2		2	SUPT5H	19	39964105	Silent	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10	1007349	39964105	19164878	88	1870											
ZNF285	26974	bcgsc.ca	37	chr19	44892228	44892228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtaacttaacccctttGcctgaagattcaaaatgttg	14	12	7	8	0	1	2	1	1	0	1	1	2	1	2	3	1	3	2	3	1	6	5	rs117953191	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:44892228G>C	ENST00000330997.4	-	4	243	c.179C>G	c.(178-180)gCa>gGa	p.A60G	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.A60G|ZNF285_ENST00000591679.1_Missense_Mutation_p.A67G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	60	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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TAACCCCTTTGCCTGAAGATT	0.403																																					p.A60G													.	ZNF285	86		0			c.C179G												79	83	82					19																	44892228		2201	4299	6500	SO:0001583	missense	26974	exon4			CCCTTTGCCTGAA	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.179C>G	19.37:g.44892228G>C	ENSP00000333595:p.Ala60Gly		151	0.0331125828	5		197	0.09	18	NM_152354	3	0	0	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	6.897	0.535060	0.13188	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06294	3.32	1.78	-2.09	0.07232	Krueppel-associated box (2);	.	.	.	.	T	0.02455	0.0075	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	0.42582	-0.9443	9	0.45353	T	0.12	.	3.686	0.08328	0.0:0.1882:0.4872:0.3246	.	84;60	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	83;60	ENSP00000333595:A60G	ENSP00000333595:A60G	A	-	2	0	ZNF285	49584068	0.000000	0.05858	0.010000	0.14722	0.284000	0.27059	0.028000	0.13644	-0.674000	0.05253	-0.563000	0.04171	GCA			0.403	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443600.1		NM_152354		C	44892228	G	C	44892228	3	2	27	1	0	0	0	0	1	0	0	0	17845	1319	46	5	1597	5	ZNF285	19	44892228	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	4928123	44892228	14236755	89	1871											
BRSK1	84446	mdanderson.org	37	chr19	55817676	55817676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttcagggccgagtacaaGgccagtggcggcccctccgt	7	6	14	14	3	1	0	1	0	0	0	2	1	2	0	5	4	2	2	5	4	2	2	rs12973169	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:55817676G>T	ENST00000309383.1	+	17	2224	c.1947G>T	c.(1945-1947)aaG>aaT	p.K649N	BRSK1_ENST00000326848.7_Missense_Mutation_p.K344N|BRSK1_ENST00000590333.1_Missense_Mutation_p.K665N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	649					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)		CCGAGTACAAGGCCAGTGGCG	0.642																																					p.K649N													.	.			0			c.G1947T												61	61	61					19																	55817676		2203	4300	6503	SO:0001583	missense	84446	exon17			GTACAAGGCCAGT	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.1947G>T	19.37:g.55817676G>T	ENSP00000310649:p.Lys649Asn		112	0	0		94	0.04	4	NM_032430	3	0	0	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	17.55	3.417782	0.62622	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.75589	-0.95;1.54	5.11	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.72353	2.195	0.48040	D	0.999575	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	D	0.85711	0.1319	10	0.87932	D	0	.	12.6853	0.56944	0.0819:0.0:0.9181:0.0	.	649;665	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	N	649;344;344	ENSP00000310649:K649N;ENSP00000320853:K344N	ENSP00000310649:K649N	K	+	3	2	BRSK1	60509488	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.033000	0.49743	1.316000	0.45131	0.555000	0.69702	AAG			0.642	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452787.1		NM_032430		T	55817676	G	T	55817676	3	4	27	1	0	0	0	0	1	0	0	0	1525	991	35	3	2013	3	BRSK1	19	55817676	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	10925448	55817676	3311307	90	1872											
JPH2	57158	mdanderson.org	37	chr20	42788847	42788847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgccacgcgggatggCgggcgagggcagcgcggggc	6	1	22	12	7	0	0	0	0	0	0	0	3	0	1	2	6	2	1	2	6	1	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr20:42788847C>T	ENST00000372980.3	-	2	1452	c.580G>A	c.(580-582)Gcc>Acc	p.A194T		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	194					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCGGGATGGCGGGCGAGGGC	0.786																																					p.A194T													.	.			0			c.G580A												1	1	1					20																	42788847		588	1425	2013	SO:0001583	missense	57158	exon2			GGATGGCGGGCGA	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.580G>A	20.37:g.42788847C>T	ENSP00000362071:p.Ala194Thr		9	0	0		16	0.13	2	NM_020433	0		0	E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	12.04	1.819719	0.32145	.	.	ENSG00000149596	ENST00000372980	T	0.60424	0.19	3.34	-1.15	0.09709	.	0.446017	0.23444	N	0.048116	T	0.23171	0.0560	N	0.02916	-0.46	0.80722	D	1	B	0.10296	0.003	B	0.01281	0.0	T	0.02150	-1.1205	10	0.21540	T	0.41	.	3.9729	0.09462	0.0:0.187:0.3529:0.4601	.	194	Q9BR39	JPH2_HUMAN	T	194	ENSP00000362071:A194T	ENSP00000362071:A194T	A	-	1	0	JPH2	42222261	0.992000	0.36948	0.963000	0.40424	0.855000	0.48748	0.777000	0.26718	-0.033000	0.13736	0.306000	0.20318	GCC			0.786	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080307.1				T	42788847	C	T	42788847	3	4	27	1	0	0	0	0	1	0	0	0	7976	768	27	1	1526	1	JPH2	20	42788847	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10		42788847	20236673	91	1873											
NEURL2	140825	broad.mit.edu	37	chr20	44519365	44519365	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggccagactggcggggTccagcgcggtcagaccgaga	7	3	19	12	5	1	3	1	0	0	3	2	4	2	3	3	6	1	0	3	6	0	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr20:44519365T>G	ENST00000372518.4	-	1	561	c.266A>C	c.(265-267)gAc>gCc	p.D89A	CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	89	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACTGGCGGGGTCCAGCGCGGT	0.677																																					.													.	NEURL2	14		0			.												24	33	30					20																	44519365		2201	4295	6496	SO:0001583	missense	140825	.			GCGGGGTCCAGCG	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"chromosome 20 open reading frame 163", "neuralized-like 2 (Drosophila)", "neuralized homolog 2 (Drosophila)"	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.266A>C	20.37:g.44519365T>G	ENSP00000361596:p.Asp89Ala		81	0.1234567901	10		119	0.14	17	.	4	0.25	1	Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.977954	0.74360	.	.	ENSG00000124257	ENST00000372518	T	0.51574	0.7	4.83	4.83	0.62350	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.67953	2.075	0.80722	D	1	P	0.41978	0.767	P	0.47376	0.545	T	0.56080	-0.8038	9	.	.	.	-36.5686	14.5774	0.68258	0.0:0.0:0.0:1.0	.	89	Q9BR09	NEUL2_HUMAN	A	89	ENSP00000361596:D89A	.	D	-	2	0	NEURL2	43952772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.600000	0.67599	2.034000	0.60081	0.459000	0.35465	GAC			0.677	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079539.2				G	44519365	T	G	44519365	3	3	27	1	0	0	0	0	1	0	0	0	10363	1667	58	4	599	4	NEURL2	20	44519365	Missense_Mutation	SNP	T	TCGA-2G-AAGE-01A-21D-A42Y-10	1730518	44519365	18506155	92	1874											
PRPF6	57473	mdanderson.org	37	chr20	62657364	62657364	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaatgatgagtacgagcggGcccggaggctgctggccaag	10	5	17	9	3	0	3	0	2	0	1	0	5	0	4	2	4	3	3	2	4	3	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr20:62657364G>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_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)					GTACGAGCGGGCCCGGAGGCT	0.662																																					p.A661S													.	.			0			c.G1981T												91	93	93					20																	62657364		2203	4298	6501	SO:0001627	intron_variant	24148	exon15			GAGCGGGCCCGGA	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+22693C>A	20.37:g.62657364G>T			40	0	0		32	0.09	3	NM_012469	276	0	0	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670380	0.96754	.	.	ENSG00000101161	ENST00000266079	T	0.47177	0.85	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.90369	3.11	0.80722	D	1	D	0.63046	0.992	D	0.65233	0.933	T	0.79713	-0.1688	10	0.87932	D	0	.	20.0467	0.97609	0.0:0.0:1.0:0.0	.	661	O94906	PRP6_HUMAN	S	661	ENSP00000266079:A661S	ENSP00000266079:A661S	A	+	1	0	PRPF6	62127808	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	9.379000	0.97198	2.749000	0.94314	0.655000	0.94253	GCC			0.662	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080246.1		NM_020713		T	62657364	G	T	62657364	1	4	27	0	1	0	0	0	0	0	0	0	12594	1203	42	2		2	PRPF6	20	62657364	Intron	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	18137999	62657364	368156	93	1875											
EMID1	129080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	29622540	29622540	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtgctggaggccaaGgtgggtgagcagctccctcc	7	7	16	11	0	0	2	0	2	0	0	2	3	2	3	3	5	3	3	3	5	2	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr22:29622540G>C	ENST00000404820.3	+	5	592	c.465G>C	c.(463-465)aaG>aaC	p.K155N	EMID1_ENST00000404755.3_Splice_Site_p.K155N|EMID1_ENST00000334018.6_Splice_Site_p.K155N|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	153						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TGGAGGCCAAGGTGGGTGAGC	0.652																																					p.K155N													.	.			0			c.G465C												48	38	41					22																	29622540		2203	4300	6503	SO:0001630	splice_region_variant	129080	exon5			GGCCAAGGTGGGT	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.465+1G>C	22.37:g.29622540G>C			54	0	0		38	0.45	17	NM_133455	4	0	0	B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37		.	.	.	.	.	.	.	.	.	.	G	13.75	2.330994	0.41297	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820;ENST00000430127	D;T;D;D;T	0.91011	-2.77;0.6;-2.6;-2.75;0.5	4.83	3.79	0.43588	.	0.442134	0.19151	N	0.121457	D	0.89174	0.6640	M	0.74647	2.275	0.80722	D	1	B;B;B;B	0.19583	0.022;0.012;0.009;0.037	B;B;B;B	0.16722	0.011;0.006;0.005;0.016	D	0.85685	0.1303	10	0.46703	T	0.11	-9.7556	11.0081	0.47646	0.0:0.1894:0.8106:0.0	.	155;155;153;155	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	N	155;155;155;155;127	ENSP00000335481:K155N;ENSP00000403816:K155N;ENSP00000385414:K155N;ENSP00000384452:K155N;ENSP00000399760:K127N	ENSP00000335481:K155N	K	+	3	2	EMID1	27952540	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	5.176000	0.65026	0.984000	0.38629	0.555000	0.69702	AAG			0.652	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000321075.1		NM_133455	Missense_Mutation	C	29622540	G	C	29622540	5	2	27	1	0	0	0	0	0	0	1	0	5098	1014	35	5	483	5	EMID1	22	29622540	Splice_Site	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10		29622540	21682026	94	1876											
MAPK11	5600	mdanderson.org	37	chr22	50708640	50708640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccggagcccaccgggcGcagcccctgcagccgctgcg	4	2	16	19	6	0	0	0	0	0	0	0	1	0	1	6	3	5	3	6	3	0	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr22:50708640G>A	ENST00000330651.6	-	1	182	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	MAPK11_ENST00000495277.1_Intron|MAPK11_ENST00000449719.2_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|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)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		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)	Regorafenib(DB08896)	CCCACCGGGCGCAGCCCCTGC	0.761																																					p.R28C	GBM(9;634 739 50668)												.	.			0			c.C82T												4	5	5					22																	50708640		1375	3076	4451	SO:0001583	missense	5600	exon1			CCGGGCGCAGCCC	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.82C>T	22.37:g.50708640G>A	ENSP00000333685:p.Arg28Cys		16	0	0		20	0.15	3	NM_002751	4	0	0	A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425418	0.43020	.	.	ENSG00000185386	ENST00000330651	T	0.15256	2.44	2.37	1.14	0.20703	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.163693	0.35805	U	0.002979	T	0.25005	0.0607	M	0.64404	1.975	0.80722	D	1	B;B	0.33904	0.431;0.431	P;P	0.47376	0.545;0.545	T	0.07616	-1.0763	10	0.59425	D	0.04	.	6.7594	0.23532	0.0:0.0:0.4712:0.5288	.	28;28	A8K730;Q15759	.;MK11_HUMAN	C	28	ENSP00000333685:R28C	ENSP00000333685:R28C	R	-	1	0	MAPK11	49050767	0.646000	0.27295	0.938000	0.37757	0.036000	0.12997	0.036000	0.13819	1.309000	0.44985	0.442000	0.29010	CGC			0.761	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316900.1				A	50708640	G	A	50708640	3	1	27	1	0	0	0	0	1	0	0	0	9289	1087	38	1	1060	1	MAPK11	22	50708640	Missense_Mutation	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	21086100	50708640	595926	95	1877											
MAPK8IP2	23542	mdanderson.org	37	chr22	51041788	51041788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggaggaggaggaggAgggagatggggaaggccagg	13	1	25	2	0	0	2	0	0	0	2	0	10	0	9	1	11	0	0	1	11	1	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr22:51041788A>G	ENST00000329492.3	+	3	425	c.308A>G	c.(307-309)gAg>gGg	p.E103G	MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E103G|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E76G|CHKB_ENST00000463053.1_5'Flank	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	103	Asp/Glu-rich (acidic).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		gaggaggaggaggGAGATGGG	0.617																																					.													.	.			0			.												24	34	31					22																	51041788		2120	4230	6350	SO:0001583	missense	23542	.			AGGAGGAGGGAGA	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	ENST00000329492.3:c.308A>G	22.37:g.51041788A>G	ENSP00000330572:p.Glu103Gly		35	0	0		46	0.07	3	.	3	0	0	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000329492.3	37		.	.	.	.	.	.	.	.	.	.	A	9.202	1.028708	0.19512	.	.	ENSG00000008735	ENST00000329492;ENST00000442429;ENST00000008876	T;T;T	0.56941	0.84;0.43;2.04	4.78	2.49	0.30216	.	0.653949	0.12692	N	0.447141	T	0.32852	0.0843	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.16012	-1.0417	10	0.30854	T	0.27	-6.1423	5.7391	0.18083	0.7599:0.0:0.0902:0.1499	.	76;103	E7EQG6;Q13387	.;JIP2_HUMAN	G	103;103;76	ENSP00000330572:E103G;ENSP00000404914:E103G;ENSP00000008876:E76G	ENSP00000008876:E76G	E	+	2	0	MAPK8IP2	49388654	0.985000	0.35326	0.911000	0.35937	0.029000	0.11900	0.922000	0.28734	0.803000	0.34113	0.454000	0.30748	GAG			0.617	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_012324		G	51041788	A	G	51041788	3	3	27	1	0	0	0	0	1	0	0	0	9301	304	11	4	408	4	MAPK8IP2	22	51041788	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	333148	51041788	262778	96	1878											
PCYT1B	9468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	24665186	24665186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagggattttgggatacCtgtttctgactcagcatcag	10	12	12	7	0	3	1	2	1	1	0	3	4	3	4	1	3	2	2	1	3	2	4			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:24665186C>T	ENST00000379144.2	-	1	167	c.37G>A	c.(37-39)Ggt>Agt	p.G13S	PCYT1B_ENST00000356768.4_Missense_Mutation_p.G13S|PCYT1B_ENST00000379145.1_Intron	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	13					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTTGGGATACCTGTTTCTGAC	0.498																																					p.G13S													.	.			0			c.G37A												190	142	158					X																	24665186		2203	4300	6503	SO:0001583	missense	9468	exon1			GGATACCTGTTTC	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.37G>A	X.37:g.24665186C>T	ENSP00000368439:p.Gly13Ser		91	0	0		177	0.42	74	NM_004845	2	0	0	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	c	15.91	2.971850	0.53614	.	.	ENSG00000102230	ENST00000379144;ENST00000356768	.	.	.	4.88	4.88	0.63580	.	0.073922	0.53938	D	0.000051	T	0.58736	0.2143	N	0.14661	0.345	0.42886	D	0.994181	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	T	0.56347	-0.7994	9	0.18710	T	0.47	-14.5848	15.9172	0.79531	0.0:1.0:0.0:0.0	.	13;13	Q9Y5K3-2;Q9Y5K3	.;PCY1B_HUMAN	S	13	.	ENSP00000349211:G13S	G	-	1	0	PCYT1B	24575107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.435000	0.66532	2.272000	0.75746	0.585000	0.79938	GGT			0.498	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056103.1		NM_004845		T	24665186	C	T	24665186	3	4	27	1	0	0	0	0	1	0	0	0	11628	681	24	3	1141	3	PCYT1B	23	24665186	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10		24665186	130605374	97	1879											
ARX	170302	mdanderson.org	37	chrX	25025374	25025374	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcggcggcggcggcggcGgcagcggcagtccaagcgga	7	1	21	12	8	0	0	0	0	0	0	1	1	1	1	1	9	2	2	1	9	2	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:25025374G>A	ENST00000379044.4	-	4	1512	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	434	Ala-rich.|Pro-rich.				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						cggcggcggcggcagcggcAG	0.781																																					p.A434A													.	.			0			c.C1302T												2	4	3					X																	25025374		1307	2560	3867	SO:0001819	synonymous_variant	170302	exon4			GGCGGCGGCAGCG	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.1302C>T	X.37:g.25025374G>A			14	0	0		20	0.1	2	NM_139058	4	0	0		Silent	SNP	ENST00000379044.4	37	CCDS14215.1																																																																																					0.781	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056109.1				A	25025374	G	A	25025374	2	1	27	1	0	0	0	0	0	0	0	1	1004	1103	39	1		1	ARX	23	25025374	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	360188	25025374	130245186	98	1880											
MAGEC1	9947	broad.mit.edu	37	chrX	140995247	140995247	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagtgctcctgagggggAggattccctgtctcctctcc	5	11	13	12	0	2	2	0	2	2	1	6	5	4	4	4	3	1	1	4	3	0	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:140995247A>G	ENST00000285879.4	+	4	2343	c.2057A>G	c.(2056-2058)gAg>gGg	p.E686G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	686										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)					CCTGAGGGGGAGGATTCCCTG	0.577										HNSCC(15;0.026)																											p.E686G													.	MAGEC1	317		0			c.A2057G												63	65	64					X																	140995247		2203	4299	6502	SO:0001583	missense	9947	exon4			AGGGGGAGGATTC	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.2057A>G	X.37:g.140995247A>G	ENSP00000285879:p.Glu686Gly		150	0.0133333333	2		236	0.03	6	NM_005462	0		0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	6.643	0.487175	0.12641	.	.	ENSG00000155495	ENST00000285879	T	0.03689	3.84	0.118	0.118	0.14667	.	.	.	.	.	T	0.02083	0.0065	N	0.19112	0.55	0.18873	N	0.999981	P	0.38110	0.618	B	0.28638	0.092	T	0.45760	-0.9239	9	0.66056	D	0.02	.	4.6021	0.12359	0.9995:0.0:5.0E-4:0.0	.	686	O60732	MAGC1_HUMAN	G	686	ENSP00000285879:E686G	ENSP00000285879:E686G	E	+	2	0	MAGEC1	140822913	0.002000	0.14202	0.022000	0.16811	0.022000	0.10575	0.424000	0.21330	0.153000	0.19213	0.151000	0.16131	GAG			0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058604.1		NM_005462		G	140995247	A	G	140995247	3	3	27	1	0	0	0	0	1	0	0	0	9196	304	11	4	2063	4	MAGEC1	23	140995247	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	115969873	140995247	14275313	99	1881											
MAGEA10	4109	hgsc.bcm.edu	37	chrX	151303919	151303919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatagcaggaggaggaggaGgaagaggaggaggagggaaa	16	1	23	1	0	0	1	0	0	0	1	0	11	0	11	0	10	1	1	0	10	3	1			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:151303919G>A	ENST00000370323.4	-	4	490	c.174C>T	c.(172-174)tcC>tcT	p.S58S	MAGEA10_ENST00000244096.3_Silent_p.S58S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	58	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaagaggagg	0.552																																					p.S58S													.	.			0			c.C174T												68	71	70					X																	151303919		2203	4300	6503	SO:0001819	synonymous_variant	4109	exon5			GGAGGAGGAAGAG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.174C>T	X.37:g.151303919G>A			56	0	0		98	0.04	4	NM_001011543	0		0		Silent	SNP	ENST00000370323.4	37	CCDS14705.1																																																																																					0.552	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060916.3		NM_021048		A	151303919	G	A	151303919	2	1	27	1	0	0	0	0	0	0	0	1	9180	987	35	3		3	MAGEA10	23	151303919	Silent	SNP	G	TCGA-2G-AAGE-01A-21D-A42Y-10	10308672	151303919	3966641	100	1882											
PNMA3	29944	broad.mit.edu	37	chrX	152226011	152226011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaggtgcccgagggggAaaagaggcggaggctgatgg	9	4	22	6	2	0	2	0	1	0	1	0	5	0	4	1	8	1	2	1	8	2	0			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:152226011A>G	ENST00000370264.4	+	1	625	c.599A>G	c.(598-600)gAa>gGa	p.E200G	PNMA3_ENST00000447306.1_Missense_Mutation_p.E200G|PNMA3_ENST00000370265.4_Missense_Mutation_p.E200G			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	200					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)					cccgagggggaaaagaggcgg	0.587																																					p.E200G													.	PNMA3	81		0			c.A599G												65	64	64					X																	152226011		2203	4300	6503	SO:0001583	missense	29944	exon2			AGGGGGAAAAGAG	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.599A>G	X.37:g.152226011A>G	ENSP00000359286:p.Glu200Gly		28	0.1428571429	4		74	0.23	17	NM_013364	2	0	0	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	a	13.68	2.310689	0.40895	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.13538	2.58;2.58;2.58	1.98	1.98	0.26296	.	.	.	.	.	T	0.31827	0.0809	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04693	-1.0933	9	0.87932	D	0	.	5.4244	0.16417	1.0:0.0:0.0:0.0	.	200	Q9UL41	PNMA3_HUMAN	G	200	ENSP00000359288:E200G;ENSP00000407642:E200G;ENSP00000359286:E200G	ENSP00000359286:E200G	E	+	2	0	PNMA3	151976667	0.302000	0.24454	0.007000	0.13788	0.009000	0.06853	2.310000	0.43708	1.055000	0.40461	0.378000	0.23410	GAA			0.587	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060946.2		NM_013364		G	152226011	A	G	152226011	3	3	27	1	0	0	0	0	1	0	0	0	12172	246	9	4	601	4	PNMA3	23	152226011	Missense_Mutation	SNP	A	TCGA-2G-AAGE-01A-21D-A42Y-10	922092	152226011	3044549	101	1883											
USP9Y	8287	mdanderson.org	37	chrY	14952390	14952390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaactattgcaagacccCatcagatcattatgtcacca	14	10	5	12	0	3	2	3	0	0	2	3	2	3	2	3	0	3	2	3	0	4	4			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrY:14952390C>T	ENST00000338981.3	+	36	6883	c.5938C>T	c.(5938-5940)Cat>Tat	p.H1980Y	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1980					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						TGCAAGACCCCATCAGATCAT	0.338																																					p.H1980Y													.	.			0			c.C5938T																																									SO:0001583	missense	8287	exon36			AGACCCCATCAGA	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.5938C>T	Y.37:g.14952390C>T	ENSP00000342812:p.His1980Tyr		48	0	0		50	0.08	4	NM_004654	5	0	0	O14601	Missense_Mutation	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																					0.338	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088703.2		NM_004654		T	14952390	C	T	14952390	3	4	27	1	0	0	0	0	1	0	0	0	17115	594	21	3	6072	3	USP9Y	24	14952390	Missense_Mutation	SNP	C	TCGA-2G-AAGE-01A-21D-A42Y-10		14952390	44421176	102	1884											
KAZ	23254	hgsc.bcm.edu	37	chr1	15392249	15392249	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaccccggcctctttgatGgtaccgcccctgattattac	6	12	8	15	3	1	2	0	2	1	0	2	3	1	2	6	2	2	1	6	2	3	4			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:15392249G>T	ENST00000376030.2	+	8	1516	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	KAZN_ENST00000422387.2_Missense_Mutation_p.G408C|KAZN_ENST00000400797.3_Missense_Mutation_p.G314C|KAZN_ENST00000361144.5_Missense_Mutation_p.G402C|KAZN_ENST00000503743.1_Missense_Mutation_p.G408C|KAZN_ENST00000400798.2_Missense_Mutation_p.G314C	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	408					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						CCTCTTTGATGGTACCGCCCC	0.597																																					p.G408C													RP1-21O18_1,NS,carcinoma,-1,1	RP1-21O18_1	-1	1	0			c.G1222T												58	62	61					1																	15392249		2203	4300	6503	SO:0001630	splice_region_variant	23254	exon8			TTTGATGGTACCG	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.1222+1G>T	1.37:g.15392249G>T			75	0	0		97	0.04	4	NM_015209	24	0	0	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	CCDS152.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.631069|4.631069	0.87660|0.87660	.|.	.|.	ENSG00000189337|ENSG00000189337	ENST00000376030|ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T|.	0.21543|.	2.0|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.173148|.	0.49916|.	D|.	0.000124|.	T|T	0.65133|0.65133	0.2662|0.2662	N|N	0.19112|0.19112	0.55|0.55	0.53688|0.53688	D|D	0.999975|0.999975	D|D;D	0.61697|0.89917	0.99|1.0;1.0	P|D;D	0.58577|0.91635	0.841|0.999;0.999	T|T	0.70096|0.70096	-0.4966|-0.4966	10|8	0.34782|0.72032	T|D	0.22|0.01	-19.7325|-19.7325	18.147|18.147	0.89661|0.89661	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	408|408;402	Q674X7|Q674X7-2;Q674X7-3	KAZRN_HUMAN|.;.	Y|C	408|408;408;402;314;314	ENSP00000365198:D408Y|.	ENSP00000365198:D408Y|ENSP00000354727:G402C	D|G	+|+	1|1	0|0	KAZN|KAZN	15264836|15264836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.105000|9.105000	0.94246|0.94246	2.516000|2.516000	0.84829|0.84829	0.313000|0.313000	0.20887|0.20887	GAC|GGT			0.597	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005690.2		NM_001017999	Missense_Mutation	T	15392249	G	T	15392249	5	4	28	1	0	0	0	0	0	0	1	0	8003	1362	47	3	1464	3	KAZ	1	15392249	Splice_Site	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		15392249	233858372	1	1885											
MAP3K6	9064	mdanderson.org	37	chr1	27684931	27684931	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggccgtggagcatgtcGtggggagctggggctgcggc	4	7	22	8	3	0	1	0	1	0	0	1	3	0	3	1	7	3	3	1	7	0	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:27684931G>T	ENST00000493901.1	-	21	2994	c.2755C>A	c.(2755-2757)Cga>Aga	p.R919R	MAP3K6_ENST00000374040.3_Silent_p.R911R|MAP3K6_ENST00000357582.2_Silent_p.R919R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	919					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)		GGAGCATGTCGTGGGGAGCTG	0.672																																					p.R919R													.	.			0			c.C2755A												27	34	32					1																	27684931		2183	4278	6461	SO:0001819	synonymous_variant	9064	exon20			CATGTCGTGGGGA	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.2755C>A	1.37:g.27684931G>T			38	0	0		41	0.07	3	NM_004672	18	0	0	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.281503	0.01398	.	.	ENSG00000142733	ENST00000472410	.	.	.	4.56	1.56	0.23342	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	10.3068	0.43685	0.0:0.0:0.4767:0.5233	.	.	.	.	Q	642	.	.	H	-	3	2	MAP3K6	27557518	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	0.565000	0.23578	0.159000	0.19401	-0.181000	0.13052	CAC			0.672	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000013469.2		NM_004672		T	27684931	G	T	27684931	2	4	28	1	0	0	0	0	0	0	0	1	9270	1153	40	1		1	MAP3K6	1	27684931	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	12292682	27684931	221565690	2	1886											
SERINC2	347735	broad.mit.edu	37	chr1	31897662	31897662	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccttcttcttctttttcAccctgctcatgctctgcgtg	2	17	7	15	2	6	0	2	0	4	0	6	0	6	0	2	1	3	2	2	1	0	5			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:31897662A>C	ENST00000373709.3	+	3	484	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	SERINC2_ENST00000536384.1_Missense_Mutation_p.T116P|SERINC2_ENST00000536859.1_Missense_Mutation_p.T116P|SERINC2_ENST00000373710.1_Missense_Mutation_p.T121P|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	112					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		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;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTTCTTTTTCACCCTGCTCAT	0.657																																					p.T121P													.	SERINC2	44		0			c.A361C												18	19	19					1																	31897662		2203	4299	6502	SO:0001583	missense	347735	exon4			TTTTTCACCCTGC	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.334A>C	1.37:g.31897662A>C	ENSP00000362813:p.Thr112Pro		112	0.1696428571	19		97	0.22	21	NM_001199038	18	0.06	1	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.027057	0.35797	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	4.3	1.86	0.25419	.	0.398700	0.29355	N	0.012382	T	0.11879	0.0289	L	0.43152	1.355	0.28690	N	0.90465	B;B;B;P	0.35328	0.33;0.33;0.33;0.495	B;B;B;B	0.41412	0.356;0.356;0.356;0.356	T	0.12192	-1.0557	10	0.41790	T	0.15	-30.1886	2.2137	0.03955	0.3941:0.0:0.1942:0.4117	.	116;121;116;112	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	P	121;116;112;116	ENSP00000362814:T121P;ENSP00000444307:T116P;ENSP00000362813:T112P;ENSP00000439048:T116P	ENSP00000362813:T112P	T	+	1	0	SERINC2	31670249	0.003000	0.15002	0.968000	0.41197	0.339000	0.28857	0.973000	0.29422	0.183000	0.20059	0.533000	0.62120	ACC			0.657	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010680.1		NM_018565		C	31897662	A	C	31897662	3	2	28	1	0	0	0	0	1	0	0	0	14103	159	6	4	344	4	SERINC2	1	31897662	Missense_Mutation	SNP	A	TCGA-2G-AAGF-01A-31D-A42Y-10	4212731	31897662	217352959	3	1887											
KCNA10	3744	broad.mit.edu	37	chr1	111060761	111060761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgagaccacggccacagCacgggcagcgctggaacttt	10	4	12	15	4	0	1	0	0	0	1	0	3	0	2	3	3	3	3	3	3	1	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:111060761C>T	ENST00000369771.2	-	1	1036	c.649G>A	c.(649-651)Gct>Act	p.A217T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	217					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	ACGGCCACAGCACGGGCAGCG	0.552																																					p.A217T													.	KCNA10	92		0			c.G649A												105	103	104					1																	111060761		2203	4300	6503	SO:0001583	missense	3744	exon1			CCACAGCACGGGC	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.649G>A	1.37:g.111060761C>T	ENSP00000358786:p.Ala217Thr		155	0	0		189	0.02	4	NM_005549	0		0		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	3.524	-0.097071	0.07010	.	.	ENSG00000143105	ENST00000369771	T	0.65178	-0.14	5.93	4.06	0.47325	.	0.434020	0.25922	N	0.027433	T	0.27832	0.0685	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	10	0.52906	T	0.07	.	14.812	0.70003	0.0:0.8712:0.0:0.1288	.	217	Q16322	KCA10_HUMAN	T	217	ENSP00000358786:A217T	ENSP00000358786:A217T	A	-	1	0	KCNA10	110862284	0.026000	0.19158	0.020000	0.16555	0.219000	0.24729	2.599000	0.46231	0.418000	0.25898	-1.945000	0.00491	GCT			0.552	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059081.1		NM_005549		T	111060761	C	T	111060761	3	4	28	1	0	0	0	0	1	0	0	0	8017	710	25	2	890	2	KCNA10	1	111060761	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	79163099	111060761	138189860	4	1888											
FAM129A	116496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	184767257	184767257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgatgtaaaatctcctcaTagacattttcaacgtgaatc	13	14	5	9	1	4	3	2	2	2	1	6	3	4	3	1	0	1	1	1	0	5	4	rs373027349		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:184767257T>A	ENST00000367511.3	-	13	1815	c.1622A>T	c.(1621-1623)tAt>tTt	p.Y541F	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	541					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						AATCTCCTCATAGACATTTTC	0.418																																					p.Y541F													.	.			0			c.A1622T												98	90	93					1																	184767257		2203	4300	6503	SO:0001583	missense	116496	exon13			TCCTCATAGACAT	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.1622A>T	1.37:g.184767257T>A	ENSP00000356481:p.Tyr541Phe		64	0	0		54	0.31	17	NM_052966	3	0	0	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331909	0.81801	.	.	ENSG00000135842	ENST00000367511	T	0.25912	1.77	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	L	0.52364	1.645	0.47123	D	0.999325	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.38845	-0.9642	10	0.62326	D	0.03	-3.9261	13.9641	0.64199	0.0:0.0:0.0:1.0	.	72;541	Q5TEY9;Q9BZQ8	.;NIBAN_HUMAN	F	541	ENSP00000356481:Y541F	ENSP00000356481:Y541F	Y	-	2	0	FAM129A	183033880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.613000	0.74192	2.034000	0.60081	0.533000	0.62120	TAT			0.418	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085786.1				A	184767257	T	A	184767257	3	1	28	1	0	0	0	0	1	0	0	0	5446	1406	49	5	1172	5	FAM129A	1	184767257	Missense_Mutation	SNP	T	TCGA-2G-AAGF-01A-31D-A42Y-10	73706496	184767257	64483364	5	1889											
NT5C1B	93034	broad.mit.edu	37	chr2	18765888	18765888	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgctgctgctgctcGgacagagagttgcggtccag	5	9	15	12	3	0	1	0	0	0	1	2	3	1	2	1	2	6	7	1	2	0	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:18765888G>C	ENST00000359846.2	-	5	872	c.795C>G	c.(793-795)tcC>tcG	p.S265S	NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Silent_p.S205S|NT5C1B_ENST00000600945.1_Silent_p.S265S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S265S	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	265					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTGCTGCTCGGACAGAGAGT	0.652																																					p.S282S													.	NT5C1B	72		0			c.C846G												18	21	20					2																	18765888		2202	4298	6500	SO:0001819	synonymous_variant	93034	exon5			CTGCTCGGACAGA	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.795C>G	2.37:g.18765888G>C			54	0.0185185185	1		57	0.05	3	NM_001199087	0		0	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1																																																																																					0.652	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000323822.1				C	18765888	G	C	18765888	2	2	28	1	0	0	0	0	0	0	0	1	10703	1103	39	5		5	NT5C1B	2	18765888	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		18765888	224433485	6	1890											
APOB	338	mdanderson.org	37	chr2	21256356	21256356	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggaggtgatgtggatttGgtgctctcaaatgcgaggcc	7	13	15	6	1	1	1	1	1	1	0	2	4	1	3	1	5	2	1	1	5	1	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:21256356G>T	ENST00000233242.1	-	9	1066	c.939C>A	c.(937-939)acC>acA	p.T313T	APOB_ENST00000399256.4_Silent_p.T313T	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	313	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)					ATGTGGATTTGGTGCTCTCAA	0.438																																					p.T313T													.	.			0			c.C939A												166	158	161					2																	21256356		2203	4300	6503	SO:0001819	synonymous_variant	338	exon9			GGATTTGGTGCTC	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.939C>A	2.37:g.21256356G>T			47	0	0		51	0.06	3	NM_000384	0		0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																					0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1				T	21256356	G	T	21256356	2	4	28	1	0	0	0	0	0	0	0	1	785	1335	47	3		3	APOB	2	21256356	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	2490468	21256356	221943017	7	1891											
SMYD5	10322	ucsc.edu	37	chr2	73453042	73453042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggagagccagaagatGcagagctgggggatgagatg	14	4	19	4	0	0	5	0	1	0	5	0	9	0	7	1	4	3	2	1	4	2	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:73453042G>T	ENST00000389501.4	+	13	1270	c.1225G>T	c.(1225-1227)Gca>Tca	p.A409S	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	409	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCCAGAAGATGCAGAGCTGGG	0.572																																					p.A409S													.	SMYD5	58		0			c.G1225T												95	90	92					2																	73453042		2203	4300	6503	SO:0001583	missense	10322	exon13			GAAGATGCAGAGC	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1225G>T	2.37:g.73453042G>T	ENSP00000374152:p.Ala409Ser		28	0	0		39	0.1	4	NM_006062	53	0	0	D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610272	0.66558	.	.	ENSG00000135632	ENST00000389501	T	0.42513	0.97	4.73	4.73	0.59995	.	0.134657	0.48767	D	0.000164	T	0.25494	0.0620	N	0.16368	0.405	0.45403	D	0.998388	B	0.29037	0.231	B	0.22386	0.039	T	0.07158	-1.0787	10	0.09338	T	0.73	-9.0105	16.812	0.85724	0.0:0.0:1.0:0.0	.	409	Q6GMV2	SMYD5_HUMAN	S	409	ENSP00000374152:A409S	ENSP00000374152:A409S	A	+	1	0	SMYD5	73306550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.152000	0.94680	2.638000	0.89438	0.655000	0.94253	GCA			0.572	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318301.1		NM_006062		T	73453042	G	T	73453042	3	4	28	1	0	0	0	0	1	0	0	0	14848	1319	46	2	1275	2	SMYD5	2	73453042	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	52196686	73453042	169746331	8	1892											
RAF1	5894	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	12641718	12641718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcacgggggttttcGgctgtgaccagcctgttggg	3	11	18	9	2	0	1	0	1	0	0	1	1	0	1	2	5	2	5	2	5	0	3	rs5746220	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr3:12641718G>A	ENST00000251849.4	-	9	1362	c.923C>T	c.(922-924)cCg>cTg	p.P308L	RAF1_ENST00000534997.1_Missense_Mutation_p.P93L|RAF1_ENST00000542177.1_Missense_Mutation_p.P227L|RAF1_ENST00000442415.2_Missense_Mutation_p.P328L	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	308			P -> L (in dbSNP:rs5746220). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		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)	GGGGGTTTTCGGCTGTGACCA	0.507			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				G|||	31	0.0061901	0.0227	0.0014	5008	,	,		14941	0		0	False		,,,				2504	0				p.P308L				Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	.			0			c.C923T							G	LEU/PRO	63,4343	58.1+/-94.6	1,61,2141	83	81	82		923	5.8	1	3	dbSNP_114	82	0,8600		0,0,4300	yes	missense	RAF1	NM_002880.3	98	1,61,6441	AA,AG,GG		0.0,1.4299,0.4844	benign	308/649	12641718	63,12943	2203	4300	6503	SO:0001583	missense	5894	exon9	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	GTTTTCGGCTGTG	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.923C>T	3.37:g.12641718G>A	ENSP00000251849:p.Pro308Leu		114	0	0		143	0.25	36	NM_002880	142	0.27	39	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	G	17.11	3.305542	0.60305	0.014299	0.0	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	T;T;T;T;T	0.77098	-1.01;-1.07;-0.98;-0.99;-0.99	5.82	5.82	0.92795	.	0.095798	0.85682	D	0.000000	T	0.45458	0.1343	N	0.20986	0.625	0.80722	D	1	B;B;B	0.24092	0.097;0.007;0.021	B;B;B	0.17433	0.018;0.007;0.007	T	0.59867	-0.7373	10	0.72032	D	0.01	.	18.2796	0.90094	0.0:0.0:1.0:0.0	rs5746220;rs52789889;rs5746220	227;93;308	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	L	308;328;187;93;227	ENSP00000251849:P308L;ENSP00000401888:P328L;ENSP00000398591:P187L;ENSP00000441186:P93L;ENSP00000443567:P227L	ENSP00000251849:P308L	P	-	2	0	RAF1	12616718	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	6.704000	0.74639	2.752000	0.94435	0.655000	0.94253	CCG	0.009		0.507	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252015.2		NM_002880		A	12641718	G	A	12641718	3	1	28	1	0	0	0	0	1	0	0	0	13025	1116	39	1	1059	1	RAF1	3	12641718	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		12641718	185380712	9	1893											
IP6K2	51447	mdanderson.org	37	chr3	48727074	48727074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcatcatcaccatgttgtCgtgtgcccatcttgaggtca	9	12	9	11	1	4	1	3	1	1	0	5	1	4	1	2	1	2	2	2	1	1	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr3:48727074C>T	ENST00000328631.5	-	5	900	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	226					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						ACCATGTTGTCGTGTGCCCAT	0.483																																					p.R226Q													.	.			0			c.G677A												175	138	151					3																	48727074		2203	4300	6503	SO:0001583	missense	51447	exon5			TGTTGTCGTGTGC	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.677G>A	3.37:g.48727074C>T	ENSP00000331103:p.Arg226Gln		63	0	0		74	0.05	4	NM_016291	386	0	0	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450746	0.84101	.	.	ENSG00000068745	ENST00000328631	T	0.24538	1.85	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.62266	1.93	0.80722	D	1	P	0.48834	0.916	B	0.37015	0.239	T	0.14090	-1.0485	10	0.49607	T	0.09	-25.3535	19.6611	0.95871	0.0:1.0:0.0:0.0	.	226	Q9UHH9	IP6K2_HUMAN	Q	226	ENSP00000331103:R226Q	ENSP00000331103:R226Q	R	-	2	0	IP6K2	48702078	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.066000	0.71185	2.643000	0.89663	0.655000	0.94253	CGA			0.483	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257521.2		NM_016291		T	48727074	C	T	48727074	3	4	28	1	0	0	0	0	1	0	0	0	7804	884	31	1	611	1	IP6K2	3	48727074	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	36085356	48727074	149295356	10	1894											
PCDH10	57575	hgsc.bcm.edu;mdanderson.org	37	chr4	134072954	134072954	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgctggcagcccccaggcGctggctggtaacgccactgt	6	6	14	15	3	0	0	0	0	0	0	0	1	0	0	3	4	2	5	3	4	1	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr4:134072954G>T	ENST00000264360.5	+	1	2485	c.1659G>T	c.(1657-1659)gcG>gcT	p.A553A	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCCCAGGCGCTGGCTGGTA	0.607																																					p.A553A													PCDH10,NS,carcinoma,+2,1	PCDH10	2	1	0			c.G1659T												46	52	50					4																	134072954		2046	4057	6103	SO:0001819	synonymous_variant	57575	exon1			CCAGGCGCTGGCT	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1659G>T	4.37:g.134072954G>T			80	0	0		46	0.07	3	NM_032961	5	0	0	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																					0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000364457.2		NM_032961		T	134072954	G	T	134072954	2	4	28	1	0	0	0	0	0	0	0	1	11524	1074	38	1		1	PCDH10	4	134072954	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		134072954	57081322	11	1895											
TMEM144	55314	mdanderson.org	37	chr4	159161570	159161570	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctgaagcagtcctaccaGgtaagaatatgtactacaga	15	9	8	9	0	0	3	0	1	0	2	2	3	2	3	3	1	4	3	3	1	7	5			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr4:159161570G>T	ENST00000296529.6	+	10	1322	c.802G>T	c.(802-804)Gga>Tga	p.G268*	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	268						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AGTCCTACCAGGTAAGAATAT	0.378																																					p.G268X													.	.			0			c.G802T												103	96	99					4																	159161570		2203	4300	6503	SO:0001630	splice_region_variant	55314	exon10			CTACCAGGTAAGA	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.802+1G>T	4.37:g.159161570G>T			67	0	0		55	0.05	3	NM_018342	5	0	0	D3DP24|Q49A05|Q9NUT3	Nonsense_Mutation	SNP	ENST00000296529.6	37	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	G	42	9.729292	0.99249	.	.	ENSG00000164124	ENST00000296529	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-41.4543	17.588	0.87988	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	ENSP00000296529:G268X	G	+	1	0	TMEM144	159381020	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.676000	0.84012	2.444000	0.82710	0.467000	0.42956	GGA			0.378	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365597.1		NM_018342	Nonsense_Mutation	T	159161570	G	T	159161570	5	4	28	1	0	0	0	0	0	0	1	0	16081	1014	35	3	832	3	TMEM144	4	159161570	Splice_Site	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	25088616	159161570	31992706	12	1896											
NEK1	4750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	170345935	170345935	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacatttagagtgctgagaAtcattggttccaggctctgt	9	14	10	8	0	3	2	2	1	1	2	4	3	4	2	1	2	1	3	1	2	2	4			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr4:170345935A>C	ENST00000439128.2	-	29	3547	c.2907T>G	c.(2905-2907)gaT>gaG	p.D969E	NEK1_ENST00000512193.1_Missense_Mutation_p.D900E|NEK1_ENST00000507142.1_Missense_Mutation_p.D997E|NEK1_ENST00000511633.1_Missense_Mutation_p.D953E|NEK1_ENST00000510533.1_Missense_Mutation_p.D925E	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	969					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGTGCTGAGAATCATTGGTTC	0.383																																					p.D997E													.	.			0			c.T2991G												120	114	116					4																	170345935		1877	4101	5978	SO:0001583	missense	4750	exon31			CTGAGAATCATTG	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2907T>G	4.37:g.170345935A>C	ENSP00000408020:p.Asp969Glu		86	0	0		93	0.1	9	NM_001199397	6	0.17	1	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	A	5.974	0.363576	0.11296	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.66460	-0.21;-0.19;-0.2;-0.19;-0.19	5.14	2.73	0.32206	.	0.380647	0.25714	N	0.028797	T	0.48642	0.1511	L	0.51422	1.61	0.23994	N	0.996232	B;B;B;B;B	0.18166	0.026;0.015;0.012;0.015;0.005	B;B;B;B;B	0.16289	0.015;0.015;0.01;0.015;0.007	T	0.36359	-0.9751	10	0.02654	T	1	.	4.1086	0.10049	0.6071:0.0:0.2484:0.1445	.	900;953;997;925;969	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	E	969;953;925;997;900	ENSP00000408020:D969E;ENSP00000423332:D953E;ENSP00000427653:D925E;ENSP00000424757:D997E;ENSP00000424938:D900E	ENSP00000408020:D969E	D	-	3	2	NEK1	170582510	1.000000	0.71417	0.569000	0.28460	0.218000	0.24690	2.190000	0.42630	0.430000	0.26230	-0.250000	0.11733	GAT			0.383	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000363157.3				C	170345935	A	C	170345935	3	2	28	1	0	0	0	0	1	0	0	0	10338	98	4	4	893	4	NEK1	4	170345935	Missense_Mutation	SNP	A	TCGA-2G-AAGF-01A-31D-A42Y-10	11184365	170345935	20808341	13	1897											
HLA-A	3105	hgsc.bcm.edu	37	chr6	29911272	29911272	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcacgtgcgtggagTggctccgcagatacctggag	7	8	17	9	3	0	1	0	0	0	1	1	4	1	4	2	5	2	3	2	5	1	1	rs76185201	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:29911272T>A	ENST00000396634.1	+	5	912	c.571T>A	c.(571-573)Tgg>Agg	p.W191R	HLA-A_ENST00000376806.5_Missense_Mutation_p.W191R|HLA-A_ENST00000376802.2_Missense_Mutation_p.W191R|HLA-A_ENST00000376809.5_Missense_Mutation_p.W191R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	191	Alpha-2.		EW -> DG (in allele A*31:05).		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)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|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)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTGCGTGGAGTGGCTCCGCAG	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.W191R													HLA-A,colon,carcinoma,0,1	HLA-A	0	1	0			c.T571A												49	39	43					6																	29911272		1510	2705	4215	SO:0001583	missense	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GTGGAGTGGCTCC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.571T>A	6.37:g.29911272T>A	ENSP00000379873:p.Trp191Arg		67	0.0149253731	1		90	0.07	6	NM_001242758	1252	0	0	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	13.35	2.209848	0.39003	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00013	9.26;9.26;9.26;9.26	3.78	-2.67	0.06059	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	2.778300	0.01729	U	0.028724	T	0.00144	0.0004	H	0.94582	3.555	0.09310	N	1	B;P;B;P;B;P;P	0.41498	0.01;0.752;0.128;0.639;0.128;0.752;0.639	B;P;B;P;B;P;P	0.51101	0.0;0.659;0.274;0.523;0.163;0.659;0.523	T	0.27872	-1.0061	10	0.87932	D	0	.	4.7021	0.12832	0.0:0.188:0.3051:0.5069	rs3098019;rs9260161;rs41558617;rs52818888	70;191;191;191;191;191;191	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	R	191	ENSP00000379873:W191R;ENSP00000366002:W191R;ENSP00000366005:W191R;ENSP00000365998:W191R	ENSP00000365998:W191R	W	+	1	0	HLA-A	30019251	0.737000	0.28175	0.000000	0.03702	0.112000	0.19704	0.741000	0.26202	-0.555000	0.06142	0.397000	0.26171	TGG	0.001		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252909.1		NM_002116		A	29911272	T	A	29911272	3	1	28	1	0	0	0	0	1	0	0	0	7210	1696	59	5	581	5	HLA-A	6	29911272	Missense_Mutation	SNP	T	TCGA-2G-AAGF-01A-31D-A42Y-10		29911272	141203795	14	1898											
TMEM30A	55754	mdanderson.org	37	chr6	75994279	75994279	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgttatccggtctccGagtcttcgcggtgccccccg	2	10	13	16	6	2	0	0	0	2	0	5	1	3	0	6	3	1	1	6	3	1	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:75994279G>T	ENST00000230461.6	-	1	405	c.76C>A	c.(76-78)Cgg>Agg	p.R26R	TMEM30A_ENST00000475111.2_Silent_p.R26R|RP1-234P15.4_ENST00000607221.1_lincRNA	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	26					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGGTCTCCGAGTCTTCGCG	0.617																																					p.R26R													.	.			0			c.C76A												81	80	80					6																	75994279		2203	4300	6503	SO:0001819	synonymous_variant	55754	exon1			GTCTCCGAGTCTT	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.76C>A	6.37:g.75994279G>T			34	0	0		42	0.07	3	NM_001143958	13	0	0	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Silent	SNP	ENST00000230461.6	37	CCDS4983.1																																																																																					0.617	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041248.2		NM_018247		T	75994279	G	T	75994279	2	4	28	1	0	0	0	0	0	0	0	1	16176	1057	37	1		1	TMEM30A	6	75994279	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	46083007	75994279	95120788	15	1899											
SF3B5	83443	ucsc.edu	37	chr6	144416537	144416537	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagtcgcggtgttggttcAccagccactcccacttggtg	6	10	12	13	3	1	0	1	0	0	0	3	1	2	0	3	3	1	2	3	3	0	3	rs199548273	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:144416537A>C	ENST00000367569.2	-	1	217	c.98T>G	c.(97-99)gTg>gGg	p.V33G		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	33					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GTGTTGGTTCACCAGCCACTC	0.587																																					p.V33G													.	SF3B5	6		0			c.T98G												92	76	81					6																	144416537		2203	4300	6503	SO:0001583	missense	83443	exon1			TGGTTCACCAGCC	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.98T>G	6.37:g.144416537A>C	ENSP00000356541:p.Val33Gly		96	0.1875	18		94	0.22	21	NM_031287	652	0.16	107	B2R568|Q7RTV1	Missense_Mutation	SNP	ENST00000367569.2	37	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563239	0.86335	.	.	ENSG00000169976	ENST00000367569	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	.	.	.	0.80722	D	1	B	0.29805	0.257	B	0.38378	0.272	T	0.60316	-0.7287	8	0.62326	D	0.03	.	16.2827	0.82703	1.0:0.0:0.0:0.0	.	33	Q9BWJ5	SF3B5_HUMAN	G	33	.	ENSP00000356541:V33G	V	-	2	0	SF3B5	144458230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.458000	0.80787	2.324000	0.78689	0.533000	0.62120	GTG			0.587	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042537.1		NM_031287		C	144416537	A	C	144416537	3	2	28	1	0	0	0	0	1	0	0	0	14177	159	6	4	166	4	SF3B5	6	144416537	Missense_Mutation	SNP	A	TCGA-2G-AAGF-01A-31D-A42Y-10	68422258	144416537	26698530	16	1900											
AKAP12	9590	mdanderson.org	37	chr6	151673962	151673962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccacagggcccgactGtcaggcaaaatcgacaccag	11	5	11	14	2	1	0	1	0	0	0	2	2	1	0	3	2	1	1	3	2	2	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:151673962G>T	ENST00000253332.1	+	3	4625	c.4436G>T	c.(4435-4437)tGt>tTt	p.C1479F	AKAP12_ENST00000354675.6_Missense_Mutation_p.C1381F|AKAP12_ENST00000402676.2_Missense_Mutation_p.C1479F|AKAP12_ENST00000359755.5_Missense_Mutation_p.C1374F			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1479					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)		GGGCCCGACTGTCAGGCAAAA	0.483																																					p.C1479F	Melanoma(141;1616 1805 10049 24534 51979)												.	.			0			c.G4436T												66	70	69					6																	151673962		2203	4300	6503	SO:0001583	missense	9590	exon4			CCGACTGTCAGGC	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.4436G>T	6.37:g.151673962G>T	ENSP00000253332:p.Cys1479Phe		31	0	0		29	0.1	3	NM_005100	143	0	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833481	0.16820	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06849	3.25;3.25;3.26;3.26	5.0	4.14	0.48551	.	1.337960	0.05448	N	0.548852	T	0.01558	0.0050	N	0.08118	0	0.19575	N	0.999966	B;B;B	0.17465	0.021;0.021;0.022	B;B;B	0.09377	0.004;0.004;0.002	T	0.44128	-0.9348	10	0.59425	D	0.04	.	5.2441	0.15487	0.1277:0.4268:0.367:0.0784	.	1374;1381;1479	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	F	1479;1479;1381;1374	ENSP00000384537:C1479F;ENSP00000253332:C1479F;ENSP00000346702:C1381F;ENSP00000352794:C1374F	ENSP00000253332:C1479F	C	+	2	0	AKAP12	151715655	0.001000	0.12720	0.464000	0.27143	0.003000	0.03518	0.364000	0.20325	1.240000	0.43803	-0.171000	0.13296	TGT			0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000042712.1				T	151673962	G	T	151673962	3	4	28	1	0	0	0	0	1	0	0	0	448	1377	48	3	4475	3	AKAP12	6	151673962	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	7257425	151673962	19441105	17	1901											
UNC93A	54346	ucsc.edu	37	chr6	167728900	167728901	+	Missense_Mutation	DNP	TC	TC	CG																															accccacgctccaggacaggTcaaccaggcagaggatgaag																										TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	TC	TC					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:167728900_167728901TC>CG	ENST00000230256.3	+	8	1509_1510	c.1334_1335TC>CG	c.(1333-1335)gTC>gCG	p.V445A	UNC93A_ENST00000366829.2_Missense_Mutation_p.V403A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	445			V -> A. {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V445A(1)		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)		CCAGGACAGGTCAACCAGGCAG	0.525																																					p.V445A													UNC93A,ear,carcinoma,+1,2	UNC93A	66	2	1	Substitution - Missense(1)	skin(1)	c.C1335G																																									SO:0001583	missense	54346	exon8			GACAGGTCAACCA	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	Exception_encountered	6.37:g.167728900_167728901delinsCG	ENSP00000230256:p.Val445Ala		69	0.115942029	8		43	0.12	5	NM_018974	3	0	0	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	DNP	ENST00000230256.3	37	CCDS5300.1																																																																																					0.525	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043125.2		NM_018974		CG	167728901	TC	CG	167728900	3	2	28	1	0	0	0	0	1	0	0	0	17020	1667	58	4	1364	4	UNC93A	6	167728900	Missense_Mutation	DNP	TC	TCGA-2G-AAGF-01A-31D-A42Y-10	16054938	167728900	3386167	18	1902											
CDK14	5218	mdanderson.org	37	chr7	90741978	90741978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgacctgccgccacggCtatgggaactcaccgacagt	9	8	11	13	3	1	1	1	1	0	0	1	3	1	2	4	2	2	1	4	2	3	2	rs200612683		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:90741978C>T	ENST00000380050.3	+	13	1407	c.1276C>T	c.(1276-1278)Cta>Tta	p.L426L	CDK14_ENST00000436577.2_Silent_p.L297L|CDK14_ENST00000265741.3_Silent_p.L408L|CDK14_ENST00000406263.1_Silent_p.L380L			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	426					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCGCCACGGCTATGGGAACT	0.498																																					p.L408L	GBM(83;1228 1256 8311 16577 31299)												.	.			0			c.C1222T												72	63	66					7																	90741978		2203	4300	6503	SO:0001819	synonymous_variant	5218	exon12			CCACGGCTATGGG		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1276C>T	7.37:g.90741978C>T			49	0	0		38	0.08	3	NM_012395	11	0	0	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37																																																																																						0.498	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000059970.5		NM_012395		T	90741978	C	T	90741978	2	4	28	1	0	0	0	0	0	0	0	1	3132	796	28	2		2	CDK14	7	90741978	Silent	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10		90741978	68396685	19	1903											
TRIP6	7205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	100466178	100466178	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagccaaatccagcctCgccgctcccagcgtctccct	7	7	7	20	3	1	1	0	1	1	0	5	1	3	1	7	0	3	1	7	0	2	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:100466178C>A	ENST00000200457.4	+	4	785	c.425C>A	c.(424-426)tCg>tAg	p.S142*		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	142					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AATCCAGCCTCGCCGCTCCCA	0.657																																					p.S142X													.	.			0			c.C425A												35	40	38					7																	100466178		2150	4218	6368	SO:0001587	stop_gained	7205	exon4			CAGCCTCGCCGCT	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.425C>A	7.37:g.100466178C>A	ENSP00000200457:p.Ser142*		54	0	0		65	0.29	19	NM_003302	184	0.07	12	A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Nonsense_Mutation	SNP	ENST00000200457.4	37	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293669	0.80914	.	.	ENSG00000087077	ENST00000200457	.	.	.	4.29	1.09	0.20402	.	1024.330000	0.00958	U	0.003077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0784	0.09914	0.4257:0.445:0.0:0.1293	.	.	.	.	X	142	.	ENSP00000200457:S142X	S	+	2	0	TRIP6	100304114	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.162000	0.16501	-0.119000	0.11830	-0.521000	0.04368	TCG			0.657	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347151.2		NM_003302		A	100466178	C	A	100466178	4	1	28	1	0	0	0	0	0	1	0	0	16583	893	31	1	439	1	TRIP6	7	100466178	Nonsense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	9724200	100466178	58672485	20	1904											
RELN	5649	mdanderson.org	37	chr7	103191524	103191524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtccttacccacaaaggtGcagcttcccaaagtgcacga	11	7	10	13	1	0	0	0	0	0	0	2	1	2	0	3	2	4	3	3	2	3	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:103191524G>T	ENST00000428762.1	-	41	6451	c.6292C>A	c.(6292-6294)Cac>Aac	p.H2098N	RELN_ENST00000343529.5_Missense_Mutation_p.H2098N|RELN_ENST00000424685.2_Missense_Mutation_p.H2098N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2098					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)		CCACAAAGGTGCAGCTTCCCA	0.537																																					p.H2098N	NSCLC(146;835 1944 15585 22231 52158)												.	.			0			c.C6292A												52	39	43					7																	103191524		2203	4300	6503	SO:0001583	missense	5649	exon41			AAAGGTGCAGCTT		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.6292C>A	7.37:g.103191524G>T	ENSP00000392423:p.His2098Asn		40	0	0		37	0.08	3	NM_005045	0		0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539115	0.45176	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	1.95;1.95;1.95	5.87	5.87	0.94306	Neuraminidase (1);	0.100772	0.64402	D	0.000001	T	0.16300	0.0392	N	0.14661	0.345	0.80722	D	1	B;B	0.20164	0.041;0.042	B;B	0.24974	0.057;0.026	T	0.12344	-1.0551	10	0.19590	T	0.45	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	2098;2098	P78509-2;P78509	.;RELN_HUMAN	N	2098	ENSP00000392423:H2098N;ENSP00000345694:H2098N;ENSP00000388446:H2098N	ENSP00000345694:H2098N	H	-	1	0	RELN	102978760	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.081000	0.94049	2.775000	0.95449	0.650000	0.86243	CAC			0.537	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000348148.1		NM_005045		T	103191524	G	T	103191524	3	4	28	1	0	0	0	0	1	0	0	0	13243	1319	46	2	4190	2	RELN	7	103191524	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	2725346	103191524	55947139	21	1905											
PUS7	54517	ucsc.edu	37	chr7	105098245	105098245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggtactgctcagcgaaGccaggttgtattcagctgcg	10	9	12	10	2	2	0	2	0	0	0	2	1	2	0	1	2	6	5	1	2	4	4			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:105098245G>A	ENST00000356362.2	-	16	2192	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	PUS7_ENST00000469408.1_Missense_Mutation_p.L660F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	660					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GCTCAGCGAAGCCAGGTTGTA	0.448																																					p.L660F	Colon(138;2387 3051 17860)												.	PUS7	59		0			c.C1978T												253	230	238					7																	105098245		2203	4300	6503	SO:0001583	missense	54517	exon16			AGCGAAGCCAGGT	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1978C>T	7.37:g.105098245G>A	ENSP00000348722:p.Leu660Phe		78	0	0		73	0.01	1	NM_019042	31	0.13	4	Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486549	0.44249	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.51817	0.69;0.69	5.86	4.03	0.46877	.	0.191930	0.46442	N	0.000286	T	0.34600	0.0903	L	0.31294	0.92	0.50313	D	0.999865	B;B	0.13594	0.008;0.008	B;B	0.12156	0.007;0.007	T	0.17440	-1.0369	10	0.46703	T	0.11	-6.5191	10.3137	0.43723	0.2128:0.0:0.7872:0.0	.	660;660	B3KY42;Q96PZ0	.;PUS7_HUMAN	F	660	ENSP00000348722:L660F;ENSP00000417402:L660F	ENSP00000348722:L660F	L	-	1	0	PUS7	104885481	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.325000	0.43840	1.617000	0.50277	0.650000	0.86243	CTT			0.448	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348681.1		NM_019042		A	105098245	G	A	105098245	3	1	28	1	0	0	0	0	1	0	0	0	12856	971	34	2	11	2	PUS7	7	105098245	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	1906721	105098245	54040418	22	1906											
CSMD1	64478	hgsc.bcm.edu	37	chr8	3226879	3226879	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcttcccttggatgtaGcctccacatagagcttaaaa	11	11	6	13	0	1	1	0	0	1	1	3	2	3	2	4	1	2	2	4	1	4	5			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:3226879G>T	ENST00000520002.1	-	20	3354	c.2799C>A	c.(2797-2799)ggC>ggA	p.G933G	CSMD1_ENST00000542608.1_Silent_p.G932G|CSMD1_ENST00000602557.1_Silent_p.G933G|CSMD1_ENST00000539096.1_Silent_p.G932G|CSMD1_ENST00000602723.1_Silent_p.G933G|CSMD1_ENST00000400186.3_Silent_p.G933G|CSMD1_ENST00000537824.1_Silent_p.G932G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	933	CUB 6. {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)		CTTGGATGTAGCCTCCACATA	0.398																																					p.G932G													.	.			0			c.C2796A												59	55	56					8																	3226879		1843	4090	5933	SO:0001819	synonymous_variant	64478	exon19			GATGTAGCCTCCA			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.2799C>A	8.37:g.3226879G>T			75	0	0		106	0.05	5	NM_033225	0		0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	1.421	-0.572935	0.03882	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.2	1.34	0.21922	.	.	.	.	.	T	0.45597	0.1350	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24977	-1.0145	4	.	.	.	.	3.4073	0.07345	0.3602:0.0:0.3108:0.329	.	.	.	.	I	413	.	.	L	-	1	2	CSMD1	3214286	0.070000	0.21116	1.000000	0.80357	0.218000	0.24690	-0.753000	0.04792	0.180000	0.19960	0.563000	0.77884	CTA			0.398	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225		T	3226879	G	T	3226879	2	4	28	1	0	0	0	0	0	0	0	1	3946	958	34	2		2	CSMD1	8	3226879	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		3226879	143137143	23	1907											
EYA1	2138	mdanderson.org	37	chr8	72111599	72111599	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtactccagttccaaggcAtggtgcagggccatgaggtc	9	8	14	10	0	0	1	0	1	0	0	3	1	2	1	3	5	2	4	3	5	2	2	rs10103397	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:72111599A>T	ENST00000340726.3	-	18	2394	c.1755T>A	c.(1753-1755)caT>caA	p.H585Q	EYA1_ENST00000388740.3_Missense_Mutation_p.H552Q|EYA1_ENST00000388741.2_Missense_Mutation_p.H551Q|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000419131.1_Missense_Mutation_p.H550Q|EYA1_ENST00000388743.2_Missense_Mutation_p.H584Q|EYA1_ENST00000388742.4_Missense_Mutation_p.H585Q|EYA1_ENST00000303824.7_Missense_Mutation_p.H579Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	585					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTTCCAAGGCATGGTGCAGGG	0.607																																					p.H585Q													.	.			0			c.T1755A												88	65	73					8																	72111599		2203	4300	6503	SO:0001583	missense	2138	exon18			CAAGGCATGGTGC	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1755T>A	8.37:g.72111599A>T	ENSP00000342626:p.His585Gln		25	0	0		51	0.06	3	NM_000503	4	0	0	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126329	0.06795	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	6.16	-12.3	0.00002	EYA (1);	0.047268	0.85682	N	0.000000	T	0.78375	0.4273	N	0.03209	-0.39	0.25763	P	0.9849291	D;B;B;D;B	0.89917	1.0;0.034;0.074;0.998;0.013	D;B;B;D;B	0.83275	0.996;0.023;0.034;0.985;0.03	D	0.83844	0.0259	9	0.08179	T	0.78	-18.899	12.2437	0.54558	0.336:0.0644:0.5361:0.0635	.	579;512;552;585;550	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Q	585;585;553;552;579;551;584;550	ENSP00000373394:H585Q;ENSP00000342626:H585Q;ENSP00000373392:H552Q;ENSP00000303221:H579Q;ENSP00000373393:H551Q;ENSP00000373395:H584Q;ENSP00000410176:H550Q	ENSP00000303221:H579Q	H	-	3	2	EYA1	72274153	0.095000	0.21747	0.011000	0.14972	0.876000	0.50452	-0.437000	0.06914	-4.022000	0.00081	-0.748000	0.03510	CAT			0.607	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313788.2		NM_000503, NM_172060		T	72111599	A	T	72111599	3	4	28	1	0	0	0	0	1	0	0	0	5335	214	8	5	27	5	EYA1	8	72111599	Missense_Mutation	SNP	A	TCGA-2G-AAGF-01A-31D-A42Y-10	68884720	72111599	74252423	24	1908											
COL22A1	169044	mdanderson.org	37	chr8	139712365	139712365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactacttacgggcatccgtGgatgtggtgtgaacagggat	9	11	14	7	2	0	1	0	1	0	0	1	3	1	3	1	4	4	1	1	4	4	3			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:139712365G>T	ENST00000303045.6	-	32	3028	c.2582C>A	c.(2581-2583)cCa>cAa	p.P861Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.P861Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	861	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)			GGGCATCCGTGGATGTGGTGT	0.552										HNSCC(7;0.00092)																											p.P861Q													.	.			0			c.C2582A												85	75	79					8																	139712365		2203	4300	6503	SO:0001583	missense	169044	exon32			ATCCGTGGATGTG	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.2582C>A	8.37:g.139712365G>T	ENSP00000303153:p.Pro861Gln		32	0	0		13	0.15	2	NM_152888	3	0	0	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661073	0.29515	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96716	-4.1;-4.1	4.15	4.15	0.48705	.	0.300939	0.23121	U	0.051690	D	0.97564	0.9202	M	0.80422	2.495	0.41494	D	0.988244	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.993	D	0.96178	0.9128	10	0.26408	T	0.33	.	12.2343	0.54505	0.0:0.0:1.0:0.0	.	861;861	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Q	861;861;574	ENSP00000303153:P861Q;ENSP00000387655:P861Q	ENSP00000303153:P861Q	P	-	2	0	COL22A1	139781547	0.990000	0.36364	0.913000	0.36048	0.289000	0.27227	3.991000	0.56973	2.589000	0.87451	0.563000	0.77884	CCA			0.552	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000315905.2		XM_291257		T	139712365	G	T	139712365	3	4	28	1	0	0	0	0	1	0	0	0	3683	1348	47	3	2434	3	COL22A1	8	139712365	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	67600766	139712365	6651657	25	1909											
PYCRL	65263	mdanderson.org	37	chr8	144687882	144687882	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagcctactttctgctGagctccttggcccggcaggt	5	10	11	15	1	1	1	0	1	1	0	2	1	2	1	4	3	5	3	4	3	1	3			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:144687882G>T	ENST00000220966.6	-	6	878	c.849C>A	c.(847-849)ctC>ctA	p.L283L	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Silent_p.L134L|RP11-661A12.14_ENST00000606452.1_lincRNA	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	271					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	ACTTTCTGCTGAGCTCCTTGG	0.677																																					p.L283L													.	.			0			c.C849A												27	30	29					8																	144687882		2202	4299	6501	SO:0001819	synonymous_variant	65263	exon6			TCTGCTGAGCTCC	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.849C>A	8.37:g.144687882G>T			41	0	0		42	0.07	3	NM_023078	17	0	0	B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	CCDS6407.2																																																																																					0.677	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347081.2		NM_023078		T	144687882	G	T	144687882	2	4	28	1	0	0	0	0	0	0	0	1	12880	1277	45	3		3	PYCRL	8	144687882	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	4975517	144687882	1676140	26	1910											
ADCK5	203054	mdanderson.org	37	chr8	145617338	145617338	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcggagctggtgctgctGgaccacgggctctaccagtt	8	8	14	11	2	1	0	0	0	1	0	1	2	1	2	2	4	5	5	2	4	2	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:145617338G>T	ENST00000308860.6	+	11	1187	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	381	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGTGCTGCTGGACCACGGGC	0.687																																					p.L381L													.	.			0			c.G1143T												24	25	25					8																	145617338		2186	4296	6482	SO:0001819	synonymous_variant	203054	exon11			GCTGCTGGACCAC	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1143G>T	8.37:g.145617338G>T			37	0	0		46	0.07	3	NM_174922	26	0	0	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP	ENST00000308860.6	37	CCDS34965.1																																																																																					0.687	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382556.2		NM_174922		T	145617338	G	T	145617338	2	4	28	1	0	0	0	0	0	0	0	1	291	1335	47	3		3	ADCK5	8	145617338	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	929456	145617338	746684	27	1911											
DAB2IP	153090	mdanderson.org	37	chr9	124535377	124535377	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagggccacagctcccTgagctcacacagcaacagcg	10	5	10	16	1	2	2	1	2	1	0	3	2	3	2	2	1	5	3	2	1	1	0	rs528379635		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr9:124535377T>A	ENST00000408936.3	+	12	2752	c.2570T>A	c.(2569-2571)cTg>cAg	p.L857Q	DAB2IP_ENST00000309989.1_Missense_Mutation_p.L733Q|DAB2IP_ENST00000259371.2_Missense_Mutation_p.L829Q			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	857	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|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 ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CACAGCTCCCTGAGCTCACAC	0.672																																					p.L829Q													.	.			0			c.T2486A												20	20	20					9																	124535377		2201	4295	6496	SO:0001583	missense	153090	exon12			GCTCCCTGAGCTC	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2570T>A	9.37:g.124535377T>A	ENSP00000386183:p.Leu857Gln		39	0	0		30	0.1	3	NM_032552	12	0	0	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37		.	.	.	.	.	.	.	.	.	.	T	19.99	3.927926	0.73327	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	4.77	4.77	0.60923	.	0.337560	0.28230	N	0.016103	T	0.20820	0.0501	L	0.47716	1.5	0.52099	D	0.999946	D;D	0.55385	0.971;0.964	P;P	0.58331	0.837;0.782	T	0.01256	-1.1404	10	0.29301	T	0.29	.	13.7737	0.63039	0.0:0.0:0.0:1.0	.	857;829	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	Q	829;857;766;733	ENSP00000259371:L829Q;ENSP00000386183:L857Q;ENSP00000362887:L766Q;ENSP00000310827:L733Q	ENSP00000259371:L829Q	L	+	2	0	DAB2IP	123575198	0.745000	0.28261	1.000000	0.80357	0.972000	0.66771	1.084000	0.30828	1.920000	0.55613	0.260000	0.18958	CTG			0.672	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000317857.1		NM_032552		A	124535377	T	A	124535377	3	1	28	1	0	0	0	0	1	0	0	0	4221	1580	55	5	2532	5	DAB2IP	9	124535377	Missense_Mutation	SNP	T	TCGA-2G-AAGF-01A-31D-A42Y-10		124535377	16678054	28	1912											
CEL	1056	hgsc.bcm.edu	37	chr9	135947115	135947116	+	Missense_Mutation	DNP	CA	CA	TG																															gtgccccccacagatgactcCaaggaagctcagatgcctgc																										TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	CA	CA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr9:135947115_135947116CA>TG	ENST00000372080.4	+	11	2251_2252	c.2235_2236CA>TG	c.(2233-2238)tcCAag>tcTGag	p.K746E	CEL_ENST00000351304.7_Missense_Mutation_p.K677E	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	743					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGATGACTCCAAGGAAGCTCA	0.658																																					p.K746E													.	.			0			c.A2236G																																									SO:0001583	missense	1056	exon11			TGACTCCAAGGAA	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	Exception_encountered	9.37:g.135947115_135947116delinsTG	ENSP00000361151:p.Lys746Glu		53	0	0		73	0.15	11	NM_001807	8	0	0	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	DNP	ENST00000372080.4	37	CCDS43896.1																																																																																					0.658	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054823.1				TG	135947116	CA	TG	135947115	3	4	28	1	0	0	0	0	1	0	0	0	3211	581	21	3	2277	3	CEL	9	135947115	Missense_Mutation	DNP	CA	TCGA-2G-AAGF-01A-31D-A42Y-10	11411738	135947115	5266316	29	1913											
DBH	1621	mdanderson.org	37	chr9	136501645	136501645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccctcccctatcacaTccccctggacccggaggggt	6	6	10	19	1	1	0	1	0	0	0	3	3	3	2	7	4	1	0	7	4	1	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr9:136501645T>C	ENST00000393056.2	+	1	164	c.152T>C	c.(151-153)aTc>aCc	p.I51T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	51					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCTATCACATCCCCCTGGAC	0.642																																					p.I51T													.	.			0			c.T152C												35	34	34					9																	136501645		2203	4300	6503	SO:0001583	missense	1621	exon1			ATCACATCCCCCT	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.152T>C	9.37:g.136501645T>C	ENSP00000376776:p.Ile51Thr		42	0	0		47	0.09	4	NM_000787	0		0	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	T	7.901	0.734309	0.15574	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.48201	0.82;0.95	5.59	5.59	0.84812	.	0.549745	0.19163	N	0.121122	T	0.51024	0.1650	M	0.73598	2.24	0.09310	N	1	B	0.32573	0.376	B	0.32289	0.143	T	0.50866	-0.8777	10	0.44086	T	0.13	-31.5769	15.7557	0.78021	0.0:0.0:0.0:1.0	.	51	P09172	DOPO_HUMAN	T	51;37;37	ENSP00000376776:I51T;ENSP00000263611:I37T	ENSP00000263611:I37T	I	+	2	0	DBH	135491466	0.979000	0.34478	0.428000	0.26697	0.013000	0.08279	5.796000	0.69080	2.135000	0.66039	0.459000	0.35465	ATC			0.642	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054929.2		NM_000787		C	136501645	T	C	136501645	3	2	28	1	0	0	0	0	1	0	0	0	4252	1435	50	4	154	4	DBH	9	136501645	Missense_Mutation	SNP	T	TCGA-2G-AAGF-01A-31D-A42Y-10	554530	136501645	4711786	30	1914											
C10orf140	387640	broad.mit.edu;bcgsc.ca	37	chr10	21805720	21805720	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggtggtggtggtgAtggtggtggtggtggtggtg	1	14	26	0	0	0	1	0	1	0	0	0	1	0	1	0	12	0	0	0	12	0	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:21805720A>G	ENST00000449193.2	-	4	3284	c.1032T>C	c.(1030-1032)caT>caC	p.H344H	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Silent_p.H265H	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	263	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											ggtggtggtgatggtggtggt	0.716																																					p.H344H													.	.			0			c.T1032C												4	6	5					10																	21805720		1658	3602	5260	SO:0001819	synonymous_variant	387640	exon4			GTGGTGATGGTGG	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.1032T>C	10.37:g.21805720A>G			23	0	0		26	0.15	4	NM_207371	2	0	0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.716	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		G	21805720	A	G	21805720	2	3	28	1	0	0	0	0	0	0	0	1	1597	330	12	4		4	C10orf140	10	21805720	Silent	SNP	A	TCGA-2G-AAGF-01A-31D-A42Y-10		21805720	113729027	31	1915											
C10orf140	387640	mdanderson.org	37	chr10	21806056	21806056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcagcagcGgcggcggcggcggcggcggc	2	0	25	14	11	0	0	0	0	0	0	0	0	0	0	0	11	2	2	0	11	0	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:21806056G>A	ENST00000449193.2	-	4	2948	c.696C>T	c.(694-696)gcC>gcT	p.A232A	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Intron	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	232	Ala-rich.			Missing (in Ref. 2; BAD18601). {ECO:0000305}.		nucleus (GO:0005634)											cggcagcagcggcggcggcgg	0.766																																					p.A232A													.	.			0			c.C696T												1	1	1					10																	21806056		64	241	305	SO:0001819	synonymous_variant	387640	exon4			AGCAGCGGCGGCG	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.696C>T	10.37:g.21806056G>A			18	0	0		13	0.15	2	NM_207371	0		0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.766	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		A	21806056	G	A	21806056	2	1	28	1	0	0	0	0	0	0	0	1	1597	1103	39	1		1	C10orf140	10	21806056	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	336	21806056	113728691	32	1916											
GAD2	2572	mdanderson.org	37	chr10	26581439	26581439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgataaatgtttggagttgGcagagtatttatacaacatc	13	15	9	4	0	0	2	0	1	0	1	1	3	0	3	0	2	2	4	0	2	6	8			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:26581439G>T	ENST00000376261.3	+	14	1935	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S	GAD2_ENST00000259271.3_Missense_Mutation_p.A478S	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	478					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						TTTGGAGTTGGCAGAGTATTT	0.413																																					p.A478S													.	.			0			c.G1432T												134	126	129					10																	26581439		2203	4300	6503	SO:0001583	missense	2572	exon14			GAGTTGGCAGAGT	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.1432G>T	10.37:g.26581439G>T	ENSP00000365437:p.Ala478Ser		86	0	0		50	0.06	3	NM_000818	10	0	0	Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294556	0.40594	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.51325	0.71;0.71	5.59	5.59	0.84812	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.055044	0.85682	D	0.000000	T	0.43255	0.1239	L	0.38733	1.17	0.80722	D	1	B	0.16603	0.018	B	0.31812	0.136	T	0.21177	-1.0253	10	0.30854	T	0.27	-16.6767	14.7678	0.69654	0.0:0.0:0.8556:0.1444	.	478	Q05329	DCE2_HUMAN	S	478	ENSP00000365437:A478S;ENSP00000259271:A478S	ENSP00000259271:A478S	A	+	1	0	GAD2	26621445	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.822000	0.75277	2.793000	0.96121	0.655000	0.94253	GCA			0.413	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047255.1		NM_000818		T	26581439	G	T	26581439	3	4	28	1	0	0	0	0	1	0	0	0	6193	1203	42	2	1486	2	GAD2	10	26581439	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	4775383	26581439	108953308	33	1917											
LRIT2	340745	mdanderson.org	37	chr10	85985212	85985212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcctggcagacagaaaGgctgagctgcgtgtgtatcc	9	9	13	10	1	0	3	0	1	0	2	2	3	2	3	2	2	3	5	2	2	2	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:85985212G>T	ENST00000372113.4	-	1	70	c.65C>A	c.(64-66)cCt>cAt	p.P22H	LRIT2_ENST00000538192.1_Missense_Mutation_p.P22H	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	22						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CAGACAGAAAGGCTGAGCTGC	0.458																																					p.P22H													.	.			0			c.C65A												74	71	72					10																	85985212		2203	4300	6503	SO:0001583	missense	340745	exon1			CAGAAAGGCTGAG		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.65C>A	10.37:g.85985212G>T	ENSP00000361185:p.Pro22His		61	0	0		54	0.06	3	NM_001017924	0		0	B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005353	0.35415	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.61859	0.48;0.07	5.87	3.02	0.34903	.	0.616927	0.15085	N	0.281446	T	0.57666	0.2069	M	0.65975	2.015	0.09310	N	1	D;D	0.55172	0.97;0.97	P;P	0.49708	0.62;0.62	T	0.46803	-0.9165	10	0.15066	T	0.55	.	8.1948	0.31389	0.3077:0.0:0.6923:0.0	.	22;22	B7ZME6;A6NDA9	.;LRIT2_HUMAN	H	22	ENSP00000361185:P22H;ENSP00000438264:P22H	ENSP00000361185:P22H	P	-	2	0	LRIT2	85975192	0.801000	0.28930	0.001000	0.08648	0.293000	0.27360	2.599000	0.46231	0.827000	0.34685	0.655000	0.94253	CCT			0.458	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049110.4		XM_291697		T	85985212	G	T	85985212	3	4	28	1	0	0	0	0	1	0	0	0	8964	1000	35	3	1599	3	LRIT2	10	85985212	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	59403773	85985212	49549535	34	1918											
SLIT1	6585	mdanderson.org	37	chr10	98778349	98778349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtaactcacgtgaacGgggcatcctcgccctcctgt	7	9	10	15	3	1	1	1	1	0	0	5	1	4	1	4	3	2	2	4	3	2	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:98778349G>T	ENST00000266058.4	-	28	3208	c.2963C>A	c.(2962-2964)cCg>cAg	p.P988Q	SLIT1_ENST00000371070.4_Missense_Mutation_p.P988Q|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	988	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		TCACGTGAACGGGGCATCCTC	0.657																																					p.P988Q													.	.			0			c.C2963A												33	28	30					10																	98778349		2203	4297	6500	SO:0001583	missense	6585	exon28			GTGAACGGGGCAT	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.2963C>A	10.37:g.98778349G>T	ENSP00000266058:p.Pro988Gln		69	0	0		50	0.06	3	NM_003061	0		0	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	1.831	-0.469914	0.04445	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.87334	-2.24;-2.24	5.82	3.92	0.45320	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.467998	0.24132	N	0.041250	T	0.69314	0.3097	N	0.01352	-0.895	0.37668	D	0.923023	B	0.02656	0.0	B	0.01281	0.0	T	0.62483	-0.6845	10	0.27785	T	0.31	.	16.199	0.82057	0.0:0.7378:0.2622:0.0	.	988	O75093	SLIT1_HUMAN	Q	988	ENSP00000266058:P988Q;ENSP00000360109:P988Q	ENSP00000266058:P988Q	P	-	2	0	SLIT1	98768339	0.002000	0.14202	0.162000	0.22713	0.002000	0.02628	1.697000	0.37784	0.764000	0.33197	-0.311000	0.09066	CCG			0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049636.1		NM_003061		T	98778349	G	T	98778349	3	4	28	1	0	0	0	0	1	0	0	0	14762	1116	39	1	1681	1	SLIT1	10	98778349	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	12793137	98778349	36756398	35	1919											
DUSP8	1850	mdanderson.org	37	chr11	1579110	1579110	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagatgccagccagacaGtggacgatgacttggcagct	10	6	15	10	2	0	3	0	1	0	2	0	6	0	4	2	3	3	2	2	3	0	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:1579110G>A	ENST00000397374.3	-	6	862	c.735C>T	c.(733-735)caC>caT	p.H245H	DUSP8_ENST00000331588.4_Silent_p.H245H|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	245	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|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)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CAGCCAGACAGTGGACGATGA	0.617																																					p.H245H													.	.			0			c.C735T												138	125	130					11																	1579110		2202	4299	6501	SO:0001819	synonymous_variant	1850	exon6			CAGACAGTGGACG		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.735C>T	11.37:g.1579110G>A			50	0	0		43	0.07	3	NM_004420	37	0	0	Q86SS8	Silent	SNP	ENST00000397374.3	37	CCDS7724.1																																																																																					0.617	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257178.3		NM_004420		A	1579110	G	A	1579110	2	1	28	1	0	0	0	0	0	0	0	1	4836	1020	36	3		3	DUSP8	11	1579110	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		1579110	133427406	36	1920											
GTF2H1	2965	mdanderson.org	37	chr11	18354649	18354649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcatctgaagaagttttgCtgattgtaaagaaagtgcgt	12	13	10	6	1	2	4	1	2	1	2	2	4	2	4	1	0	2	3	1	0	5	4			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:18354649C>A	ENST00000265963.4	+	2	188	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.L10M|GTF2H1_ENST00000531757.1_3'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	10					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|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)|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)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AGAAGTTTTGCTGATTGTAAA	0.398								Nucleotide excision repair (NER)																													p.L10M													.	.			0			c.C28A												87	83	85					11																	18354649		2199	4293	6492	SO:0001583	missense	2965	exon3			GTTTTGCTGATTG		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.28C>A	11.37:g.18354649C>A	ENSP00000265963:p.Leu10Met		41	0	0		19	0.11	2	NM_001142307	10	0	0	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322503	0.60634	.	.	ENSG00000110768	ENST00000453096;ENST00000525831;ENST00000265963	T;T	0.31247	1.5;1.5	5.58	0.593	0.17478	TFIIH p62 subunit, N-terminal (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	L	0.57536	1.79	0.80722	D	1	P	0.50617	0.937	D	0.64042	0.921	T	0.19844	-1.0293	10	0.48119	T	0.1	-7.7054	9.7208	0.40302	0.0:0.588:0.0:0.412	.	10	P32780	TF2H1_HUMAN	M	10	ENSP00000393638:L10M;ENSP00000265963:L10M	ENSP00000265963:L10M	L	+	1	2	GTF2H1	18311225	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	0.986000	0.29590	0.062000	0.16340	-0.251000	0.11542	CTG			0.398	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395627.2		NM_005316		A	18354649	C	A	18354649	3	1	28	1	0	0	0	0	1	0	0	0	6875	796	28	2	30	2	GTF2H1	11	18354649	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	16775539	18354649	116651867	37	1921											
NAV2	89797	bcgsc.ca	37	chr11	20005718	20005718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatacccgtcgcctgaaccGgctccctgatgggatggctg	6	9	12	14	3	0	2	0	2	0	0	2	3	1	3	4	3	2	2	4	3	3	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:20005718G>T	ENST00000396087.3	+	12	2861	c.2762G>T	c.(2761-2763)cGg>cTg	p.R921L	NAV2_ENST00000540292.1_Missense_Mutation_p.R852L|NAV2-AS3_ENST00000534036.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.R898L|NAV2_ENST00000527559.2_Missense_Mutation_p.R850L|NAV2_ENST00000360655.4_Missense_Mutation_p.R834L|NAV2_ENST00000396085.1_Missense_Mutation_p.R898L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	921					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)			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						CGCCTGAACCGGCTCCCTGAT	0.547																																					p.R921L													NAV2,colon,carcinoma,+1,1	NAV2	255	1	0			c.G2762T												136	127	130					11																	20005718		2203	4300	6503	SO:0001583	missense	89797	exon12			TGAACCGGCTCCC	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.2762G>T	11.37:g.20005718G>T	ENSP00000379396:p.Arg921Leu		58	0.0172413793	1		59	0.08	5	NM_001244963	1	0	0	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257473	0.95368	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.45668	0.94;0.98;0.98;0.98;0.89;0.89	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000029	T	0.59985	0.2234	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.75020	0.985;0.795	T	0.53187	-0.8474	9	.	.	.	.	18.8669	0.92296	0.0:0.0:1.0:0.0	.	898;834	Q8IVL1-3;Q8IVL1-4	.;.	L	834;898;898;921;850;852	ENSP00000353871:R834L;ENSP00000379394:R898L;ENSP00000309577:R898L;ENSP00000379396:R921L;ENSP00000435395:R850L;ENSP00000443489:R852L	.	R	+	2	0	NAV2	19962294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.575000	0.90766	2.824000	0.97209	0.655000	0.94253	CGG			0.547	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324112.1		NM_145117		T	20005718	G	T	20005718	3	4	28	1	0	0	0	0	1	0	0	0	10200	1116	39	1	2814	1	NAV2	11	20005718	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	1651069	20005718	115000798	38	1922											
SLC1A2	6506	broad.mit.edu	37	chr11	35308373	35308373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctataaagatggcggctaccGcttcataaagggctgtacca	12	9	10	10	2	1	1	1	0	0	1	1	1	1	1	2	3	2	4	2	3	7	6			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:35308373G>T	ENST00000278379.3	-	8	1499	c.1217C>A	c.(1216-1218)gCg>gAg	p.A406E	RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000479543.1_5'Flank|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A406E|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A397E|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A397E	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	406					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GGCGGCTACCGCTTCATAAAG	0.468																																					p.A406E	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												.	SLC1A2	54		0			c.C1217A												184	167	173					11																	35308373		2202	4298	6500	SO:0001583	missense	6506	exon8			GCTACCGCTTCAT	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1217C>A	11.37:g.35308373G>T	ENSP00000278379:p.Ala406Glu		141	0	0		124	0.02	3	NM_004171	2	0	0	B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539434	0.85917	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	T;T;T	0.62105	0.05;0.05;0.05	5.62	5.62	0.85841	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90725	0.4638	10	0.87932	D	0	-21.4502	20.024	0.97514	0.0:0.0:1.0:0.0	.	406;406	B4DQE9;P43004	.;EAA2_HUMAN	E	406;397;397	ENSP00000278379:A406E;ENSP00000379099:A397E;ENSP00000379102:A397E	ENSP00000278379:A406E	A	-	2	0	SLC1A2	35264949	1.000000	0.71417	0.968000	0.41197	0.388000	0.30384	9.813000	0.99286	2.813000	0.96785	0.561000	0.74099	GCG			0.468	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000258181.1		NM_004171		T	35308373	G	T	35308373	3	4	28	1	0	0	0	0	1	0	0	0	14455	1087	38	1	523	1	SLC1A2	11	35308373	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	15302655	35308373	99698143	39	1923											
GPR44	11251	broad.mit.edu	37	chr11	60620376	60620376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcagccccgggtttgCgtgcgcccgcgcctccagca	3	5	14	19	7	0	0	0	0	0	0	1	0	1	0	6	2	4	3	6	2	0	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:60620376C>T	ENST00000332539.4	-	2	931	c.820G>A	c.(820-822)Gca>Aca	p.A274T	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	274					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	CCCGGGTTTGCGTGCGCCCGC	0.726																																					p.A274T													.	.			0			c.G820A												4	4	4					11																	60620376		1619	3148	4767	SO:0001583	missense	11251	exon2			GGTTTGCGTGCGC	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.820G>A	11.37:g.60620376C>T	ENSP00000332812:p.Ala274Thr		43	0.023255814	1		55	0.09	5	NM_004778	0		0	O94765|Q4QRI6	Missense_Mutation	SNP	ENST00000332539.4	37	CCDS7994.1	.	.	.	.	.	.	.	.	.	.	C	1.523	-0.546343	0.04024	.	.	ENSG00000183134	ENST00000332539	T	0.71579	-0.58	4.6	-8.23	0.01033	GPCR, rhodopsin-like superfamily (1);	1.505870	0.04221	N	0.333602	T	0.49762	0.1576	L	0.31065	0.9	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.23833	-1.0177	10	0.19590	T	0.45	.	5.5057	0.16852	0.4357:0.1467:0.0:0.4175	.	274	Q9Y5Y4	GPR44_HUMAN	T	274	ENSP00000332812:A274T	ENSP00000332812:A274T	A	-	1	0	GPR44	60376952	.	.	0.003000	0.11579	0.019000	0.09904	.	.	-1.219000	0.02597	-2.566000	0.00172	GCA			0.726	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396328.1		NM_004778		T	60620376	C	T	60620376	3	4	28	1	0	0	0	0	1	0	0	0	6709	768	27	1	371	1	GPR44	11	60620376	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	25312003	60620376	74386140	40	1924											
SLC22A12	116085	mdanderson.org	37	chr11	64367948	64367948	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcttccccactgtgctcagGtgaggctgggcctgggctcc	3	10	13	15	0	2	1	1	1	1	0	4	1	4	1	4	4	1	3	4	4	0	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:64367948G>T	ENST00000377574.1	+	8	2141		c.e8+1		SLC22A12_ENST00000336464.7_Splice_Site|SLC22A12_ENST00000473690.1_Splice_Site|SLC22A12_ENST00000377572.1_Splice_Site|SLC22A12_ENST00000377567.2_Splice_Site	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12						cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CTGTGCTCAGGTGAGGCTGGG	0.667																																					.													.	.			0			c.1292+1G>T												21	21	21					11																	64367948		2200	4296	6496	SO:0001630	splice_region_variant	116085	exon8			GCTCAGGTGAGGC	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1394+1G>T	11.37:g.64367948G>T			32	0	0		40	0.08	3	NM_001276326	0		0	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Splice_Site	SNP	ENST00000377574.1	37	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749532	0.69533	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4836	0.61353	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC22A12	64124524	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	6.609000	0.74173	2.250000	0.74265	0.561000	0.74099	.			0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000104966.2		NM_144585	Intron	T	64367948	G	T	64367948	5	4	28	1	0	0	0	0	0	0	1	0	14466	1275	44	3	1425	3	SLC22A12	11	64367948	Splice_Site	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	3747572	64367948	70638568	41	1925											
DDX10	1662	mdanderson.org	37	chr11	108594024	108594024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaactggcaaaagcaaaAggatctcaagccccatctct	16	6	8	11	0	2	1	1	0	2	1	4	3	2	2	2	2	3	2	2	2	6	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:108594024A>G	ENST00000322536.3	+	13	1929	c.1800A>G	c.(1798-1800)aaA>aaG	p.K600K	DDX10_ENST00000526794.1_Silent_p.K600K	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	600					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E594_E618del(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CAAAAGCAAAAGGATCTCAAG	0.443			T	NUP98	AML*																																p.K600K				Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	.	.			1	Deletion - In frame(1)	breast(1)	c.A1800G												99	97	97					11																	108594024		2201	4298	6499	SO:0001819	synonymous_variant	1662	exon13			AGCAAAAGGATCT	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1800A>G	11.37:g.108594024A>G			52	0	0		44	0.07	3	NM_004398	84	0	0	B2RCQ3|Q5BJD8	Silent	SNP	ENST00000322536.3	37	CCDS8342.1																																																																																					0.443	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390343.1		NM_004398		G	108594024	A	G	108594024	2	3	28	1	0	0	0	0	0	0	0	1	4344	69	3	4		4	DDX10	11	108594024	Silent	SNP	A	TCGA-2G-AAGF-01A-31D-A42Y-10	44226076	108594024	26412492	42	1926											
FGD4	121512	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr12	32734925	32734925	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatagtgatttgaagaaaGagtctgctgtgaacctaaat	15	13	9	4	0	1	5	0	3	1	2	1	5	1	5	1	0	2	1	1	0	7	4			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr12:32734925G>T	ENST00000427716.2	+	4	548	c.124G>T	c.(124-126)Gag>Tag	p.E42*	FGD4_ENST00000546442.1_5'UTR|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Nonsense_Mutation_p.E179*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.E154*|FGD4_ENST00000472289.1_Nonsense_Mutation_p.E42*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.E127*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	42	Actin filament-binding. {ECO:0000250}.				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)					TTTGAAGAAAGAGTCTGCTGT	0.388																																					p.E42X													.	.			0			c.G124T												78	80	79					12																	32734925		2203	4300	6503	SO:0001587	stop_gained	121512	exon4			AAGAAAGAGTCTG	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.124G>T	12.37:g.32734925G>T	ENSP00000394487:p.Glu42*		108	0	0		260	0.04	11	NM_139241	46	0	0	Q6ULS2|Q8TCP6	Nonsense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	35	5.557243	0.96514	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000525053;ENST00000395742	.	.	.	4.1	3.21	0.36854	.	0.504438	0.17994	N	0.155118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.2905	10.4706	0.44635	0.0916:0.0:0.9084:0.0	.	.	.	.	X	179;127;42;42;154;23	.	ENSP00000379089:E42X	E	+	1	0	FGD4	32626192	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	4.315000	0.59172	1.065000	0.40693	0.563000	0.77884	GAG			0.388	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268017.1		NM_139241		T	32734925	G	T	32734925	4	4	28	1	0	0	0	0	0	1	0	0	5848	943	33	3	130	3	FGD4	12	32734925	Nonsense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		32734925	101116970	43	1927											
TMEM117	84216	mdanderson.org	37	chr12	44537344	44537344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcatatatcattacaGactatatgggcatccgaaat	16	10	7	8	1	1	2	1	0	0	2	2	3	2	2	1	1	2	2	1	1	6	5			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr12:44537344G>T	ENST00000266534.3	+	4	554	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	TMEM117_ENST00000551577.1_Missense_Mutation_p.D143Y|TMEM117_ENST00000536799.1_Intron	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	143						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATCATTACAGACTATATGGG	0.423																																					p.D143Y													.	.			0			c.G427T												112	111	111					12																	44537344		2203	4300	6503	SO:0001583	missense	84216	exon4			ATTACAGACTATA	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.427G>T	12.37:g.44537344G>T	ENSP00000266534:p.Asp143Tyr		42	0	0		43	0.07	3	NM_032256	4	0	0		Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986000	0.74589	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.52057	0.68;0.68	5.75	4.86	0.63082	.	0.142348	0.64402	D	0.000007	T	0.39332	0.1074	L	0.29908	0.895	0.80722	D	1	B;B	0.28324	0.207;0.207	B;B	0.26969	0.075;0.075	T	0.31166	-0.9953	10	0.72032	D	0.01	-12.3387	16.2791	0.82664	0.0:0.1407:0.8593:0.0	.	143;143	F8VS00;Q9H0C3	.;TM117_HUMAN	Y	143	ENSP00000448595:D143Y;ENSP00000266534:D143Y	ENSP00000266534:D143Y	D	+	1	0	TMEM117	42823611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	1.420000	0.47138	0.655000	0.94253	GAC			0.423	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403969.1		NM_032256		T	44537344	G	T	44537344	3	4	28	1	0	0	0	0	1	0	0	0	16054	942	33	3	437	3	TMEM117	12	44537344	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	11802419	44537344	89314551	44	1928											
NCOR2	9612	hgsc.bcm.edu;mdanderson.org	37	chr12	124887102	124887102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgttgttgCtgctgctgtcagaccccggg	2	13	14	12	1	1	1	1	0	0	1	1	1	1	1	2	1	7	9	2	1	0	2	rs7488825		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr12:124887102C>T	ENST00000405201.1	-	14	1488	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	NCOR2_ENST00000397355.1_Silent_p.Q496Q|NCOR2_ENST00000404621.1_Silent_p.Q495Q|NCOR2_ENST00000429285.2_Silent_p.Q495Q|NCOR2_ENST00000356219.3_Silent_p.Q496Q|NCOR2_ENST00000404121.2_Silent_p.Q66Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	496	Poly-Gln.				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)		gctgttgttgctgctgctgTC	0.627																																					p.Q496Q													.	.			0			c.G1488A												9	10	9					12																	124887102		2049	4171	6220	SO:0001819	synonymous_variant	9612	exon16			TTGTTGCTGCTGC	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.1488G>A	12.37:g.124887102C>T			43	0	0		66	0.11	7	NM_006312	21	0.1	2	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																					0.627	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312		T	124887102	C	T	124887102	2	4	28	1	0	0	0	0	0	0	0	1	10253	796	28	2		2	NCOR2	12	124887102	Silent	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	80349758	124887102	8964793	45	1929											
EBPL	84650	broad.mit.edu	37	chr13	50235138	50235138	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaactggtttctttcTgatgcattttcttgagttct	6	20	7	8	0	5	3	1	3	4	0	5	3	5	3	0	1	2	3	0	1	1	6			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr13:50235138T>G	ENST00000242827.6	-	4	637	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	196					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.Q196P(2)		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)		GGTTTCTTTCTGATGCATTTT	0.383																																					p.Q196P	NSCLC(39;857 1083 36109 42364 51411)												EBPL,NS,carcinoma,0,2	EBPL	44	2	2	Substitution - Missense(2)	endometrium(2)	c.A587C												73	73	73					13																	50235138		2203	4300	6503	SO:0001583	missense	84650	exon4			TCTTTCTGATGCA	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.587A>C	13.37:g.50235138T>G	ENSP00000242827:p.Gln196Pro		104	0	0		120	0.03	4	NM_032565	509	0	0	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722268	0.48728	.	.	ENSG00000123179	ENST00000242827	D	0.97994	-4.65	5.61	-2.45	0.06481	.	1.466260	0.03646	N	0.240220	D	0.94876	0.8344	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	D	0.86530	0.1821	10	0.30078	T	0.28	-0.1548	6.1064	0.20075	0.3657:0.0:0.2518:0.3825	.	196	Q9BY08	EBPL_HUMAN	P	196	ENSP00000242827:Q196P	ENSP00000242827:Q196P	Q	-	2	0	EBPL	49133139	0.002000	0.14202	0.003000	0.11579	0.996000	0.88848	-0.059000	0.11731	-0.151000	0.11176	0.528000	0.53228	CAG			0.383	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044932.2		NM_032565		G	50235138	T	G	50235138	3	3	28	1	0	0	0	0	1	0	0	0	4892	1580	55	4	37	4	EBPL	13	50235138	Missense_Mutation	SNP	T	TCGA-2G-AAGF-01A-31D-A42Y-10		50235138	64934740	46	1930											
IRS2	8660	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr13	110435838	110435838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcgtggggccggcccCgaaggcgctggccgcctggc	2	4	20	15	5	0	0	0	0	0	0	0	1	0	0	5	7	1	2	5	7	1	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr13:110435838C>T	ENST00000375856.3	-	1	3077	c.2563G>A	c.(2563-2565)Ggg>Agg	p.G855R		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	855					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)			GGGCCGGCCCCGAAGGCGCTG	0.761																																					p.G855R	Melanoma(100;613 2409 40847)												.	IRS2	44		0			c.G2563A												2	2	2					13																	110435838		1563	3133	4696	SO:0001583	missense	8660	exon1			CGGCCCCGAAGGC	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.2563G>A	13.37:g.110435838C>T	ENSP00000365016:p.Gly855Arg		24	0	0		25	0.48	12	NM_003749	0		0	Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	3.588	-0.084237	0.07097	.	.	ENSG00000185950	ENST00000375856	T	0.54866	0.55	4.52	2.73	0.32206	.	1.374220	0.05752	U	0.603292	T	0.48926	0.1527	M	0.64997	1.995	0.09310	N	1	B	0.23891	0.093	B	0.14578	0.011	T	0.34030	-0.9845	10	0.18276	T	0.48	-10.2401	9.0681	0.36475	0.0:0.7687:0.1494:0.0819	.	855	Q9Y4H2	IRS2_HUMAN	R	855	ENSP00000365016:G855R	ENSP00000365016:G855R	G	-	1	0	IRS2	109233839	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.931000	0.28871	0.873000	0.35799	0.511000	0.50034	GGG			0.761	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045755.1		NM_003749		T	110435838	C	T	110435838	3	4	28	1	0	0	0	0	1	0	0	0	7856	652	23	1	1461	1	IRS2	13	110435838	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	60200700	110435838	4734040	47	1931											
MCF2L	23263	mdanderson.org	37	chr13	113742028	113742028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctgctcgcagatggctgCcgttggcattacggagaacg	7	10	13	11	4	1	2	0	0	1	2	3	3	1	2	1	3	4	5	1	3	2	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr13:113742028C>T	ENST00000375608.3	+	24	2751	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	MCF2L_ENST00000423482.2_Missense_Mutation_p.A866V|MCF2L_ENST00000535094.2_Missense_Mutation_p.A868V|MCF2L_ENST00000375597.4_Missense_Mutation_p.A866V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A925V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A898V|MCF2L_ENST00000397030.1_Missense_Mutation_p.A901V|MCF2L_ENST00000434480.2_Missense_Mutation_p.A874V|MCF2L_ENST00000375601.3_Missense_Mutation_p.A872V|MCF2L_ENST00000421756.1_Missense_Mutation_p.A872V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	898	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)				CAGATGGCTGCCGTTGGCATT	0.552																																					p.A868V													.	.			0			c.C2603T												132	86	102					13																	113742028		2203	4300	6503	SO:0001583	missense	23263	exon23			TGGCTGCCGTTGG	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.2693C>T	13.37:g.113742028C>T	ENSP00000364758:p.Ala898Val		78	0	0		32	0.09	3	NM_001112732	4	0	0	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.565718|2.565718	0.45694|0.45694	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000413354;ENST00000261963	T;T;T;T;T;T;T;T;T;T|.	0.76060|.	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;-0.99|.	5.08|5.08	4.22|4.22	0.49857|0.49857	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.115998|.	0.64402|.	D|.	0.000018|.	T|T	0.68100|0.68100	0.2964|0.2964	M|M	0.78223|0.78223	2.4|2.4	0.34358|0.34358	D|D	0.69061|0.69061	D;D;D;D;D|.	0.67145|.	0.978;0.989;0.993;0.996;0.991|.	P;P;P;P;P|.	0.58266|.	0.697;0.697;0.659;0.836;0.799|.	T|T	0.76809|0.76809	-0.2822|-0.2822	10|5	0.52906|.	T|.	0.07|.	.|.	10.2631|10.2631	0.43438|0.43438	0.0:0.8471:0.0:0.1529|0.0:0.8471:0.0:0.1529	.|.	866;868;925;866;898|.	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068|.	.;.;.;.;MCF2L_HUMAN|.	V|S	898;898;925;901;868;872;872;874;866;866;709|98;39	ENSP00000364758:A898V;ENSP00000401422:A898V;ENSP00000364754:A925V;ENSP00000380225:A901V;ENSP00000440374:A868V;ENSP00000397285:A872V;ENSP00000364751:A872V;ENSP00000407722:A874V;ENSP00000405639:A866V;ENSP00000364747:A866V|.	ENSP00000364747:A866V|.	A|P	+|+	2|1	0|0	MCF2L|MCF2L	112790029|112790029	1.000000|1.000000	0.71417|0.71417	0.021000|0.021000	0.16686|0.16686	0.003000|0.003000	0.03518|0.03518	4.713000|4.713000	0.61895|0.61895	2.346000|2.346000	0.79739|0.79739	0.655000|0.655000	0.94253|0.94253	GCC|CCG			0.552	MCF2L-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000045849.4				T	113742028	C	T	113742028	3	4	28	1	0	0	0	0	1	0	0	0	9395	739	26	2	2959	2	MCF2L	13	113742028	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	3306190	113742028	1427850	48	1932											
PRKCH	5583	mdanderson.org	37	chr14	62016436	62016436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagtaattttgaccctGacttcataaaggaagagcca	14	11	8	8	0	2	3	2	2	0	1	2	4	2	4	2	1	1	1	2	1	4	5			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr14:62016436G>T	ENST00000332981.5	+	14	2324	c.1939G>T	c.(1939-1941)Gac>Tac	p.D647Y	PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.D486Y|RP11-47I22.4_ENST00000556347.1_Intron	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	647	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TTTTGACCCTGACTTCATAAA	0.403																																					p.D647Y	Melanoma(135;863 1779 8064 14443 26348)												PRKCH,NS,carcinoma,0,1	PRKCH	0	1	0			c.G1939T												139	142	141					14																	62016436		2203	4300	6503	SO:0001583	missense	5583	exon14			GACCCTGACTTCA	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1939G>T	14.37:g.62016436G>T	ENSP00000329127:p.Asp647Tyr		44	0	0		48	0.06	3	NM_006255	25	0	0	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311849	0.81358	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.59906	0.23;0.23	5.6	4.71	0.59529	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.088817	0.47455	D	0.000233	T	0.72819	0.3508	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75997	-0.3120	10	0.72032	D	0.01	.	14.6862	0.69052	0.0697:0.0:0.9303:0.0	.	647	P24723	KPCL_HUMAN	Y	647;486	ENSP00000329127:D647Y;ENSP00000450981:D486Y	ENSP00000329127:D647Y	D	+	1	0	PRKCH	61086189	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.808000	0.99193	1.372000	0.46190	0.655000	0.94253	GAC			0.403	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276974.2		NM_006255		T	62016436	G	T	62016436	3	4	28	1	0	0	0	0	1	0	0	0	12533	1290	45	3	1993	3	PRKCH	14	62016436	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		62016436	45333104	49	1933											
VPS18	57617	mdanderson.org	37	chr15	41191492	41191492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacggagagcagcacaggccCcatcctggtcgggactgccc	8	4	13	16	2	0	1	0	0	0	1	2	3	1	2	4	4	3	2	4	4	0	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr15:41191492C>A	ENST00000220509.5	+	4	815	c.476C>A	c.(475-477)cCc>cAc	p.P159H	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	159					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCACAGGCCCCATCCTGGTC	0.617																																					p.P159H													.	.			0			c.C476A												94	92	93					15																	41191492		2203	4300	6503	SO:0001583	missense	57617	exon4			CAGGCCCCATCCT	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.476C>A	15.37:g.41191492C>A	ENSP00000220509:p.Pro159His		38	0	0		30	0.1	3	NM_020857	19	0	0	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764363	0.69878	.	.	ENSG00000104142	ENST00000220509	T	0.46819	0.86	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.69823	2.125	0.80722	D	1	P	0.42908	0.793	B	0.43225	0.412	T	0.58956	-0.7544	10	0.45353	T	0.12	-31.2601	18.2511	0.90004	0.0:1.0:0.0:0.0	.	159	Q9P253	VPS18_HUMAN	H	159	ENSP00000220509:P159H	ENSP00000220509:P159H	P	+	2	0	VPS18	38978784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.604000	0.88044	0.650000	0.86243	CCC			0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252443.2				A	41191492	C	A	41191492	3	1	28	1	0	0	0	0	1	0	0	0	17218	623	22	3	490	3	VPS18	15	41191492	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10		41191492	61339900	50	1934											
EPB42	2038	mdanderson.org	37	chr15	43500507	43500507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaggccgcgtcatccaGcactctgtggaagtctggaa	10	7	13	11	2	3	0	1	0	2	0	4	2	4	2	2	4	1	2	2	4	3	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr15:43500507G>A	ENST00000441366.2	-	8	1221	c.996C>T	c.(994-996)tgC>tgT	p.C332C	EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000300215.3_Silent_p.C362C|EPB42_ENST00000540029.1_Silent_p.C254C	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	332					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)		GCGTCATCCAGCACTCTGTGG	0.527																																					p.C362C													.	.			0			c.C1086T												64	55	58					15																	43500507		2203	4299	6502	SO:0001819	synonymous_variant	2038	exon8			CATCCAGCACTCT	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.996C>T	15.37:g.43500507G>A			74	0	0		41	0.07	3	NM_000119	0		0	Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	CCDS45249.1																																																																																					0.527	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432219.1		NM_000119		A	43500507	G	A	43500507	2	1	28	1	0	0	0	0	0	0	0	1	5165	963	34	2		2	EPB42	15	43500507	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	2309015	43500507	59030885	51	1935											
PLEKHO2	80301	mdanderson.org	37	chr15	65157590	65157590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaactgaaagcctccatgGgtgagatgcaggcttctggg	11	8	14	8	0	1	3	0	2	1	2	2	4	2	3	2	3	3	2	2	3	2	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr15:65157590G>T	ENST00000323544.4	+	6	1104	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	326	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCTCCATGGGTGAGATGCA	0.597																																					p.G326C													.	.			0			c.G976T												50	56	54					15																	65157590		2202	4299	6501	SO:0001583	missense	80301	exon6			TCCATGGGTGAGA	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.976G>T	15.37:g.65157590G>T	ENSP00000326706:p.Gly326Cys		58	0	0		47	0.06	3	NM_025201	22	0	0	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482550	0.12581	.	.	ENSG00000241839	ENST00000323544	T	0.33654	1.4	5.4	0.262	0.15597	.	0.728010	0.14246	N	0.331770	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	P;P	0.50156	0.932;0.889	B;B	0.40285	0.325;0.174	T	0.12426	-1.0548	10	0.56958	D	0.05	.	4.6181	0.12437	0.59:0.1552:0.2547:0.0	.	276;326	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	C	326	ENSP00000326706:G326C	ENSP00000326706:G326C	G	+	1	0	PLEKHO2	62944643	0.089000	0.21612	0.527000	0.27925	0.175000	0.22909	0.160000	0.16462	0.061000	0.16311	-0.469000	0.05056	GGT			0.597	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256659.1		NM_025201		T	65157590	G	T	65157590	3	4	28	1	0	0	0	0	1	0	0	0	12102	1232	43	3	998	3	PLEKHO2	15	65157590	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	21657083	65157590	37373802	52	1936											
CLCN7	1186	broad.mit.edu;mdanderson.org	37	chr16	1505139	1505139	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggggcaggttacctccGagtcaaaccttccgaagttg	9	9	12	11	3	1	0	1	0	0	0	3	3	3	0	4	3	2	3	4	3	3	3			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr16:1505139G>T	ENST00000382745.4	-	12	1699	c.1094C>A	c.(1093-1095)tCg>tAg	p.S365*	CLCN7_ENST00000448525.1_Nonsense_Mutation_p.S341*|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000262318.8_Nonsense_Mutation_p.S341*	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	365					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|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)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GGTTACCTCCGAGTCAAACCT	0.532																																					p.S365X													.	CLCN7	53		0			c.C1094A												160	133	142					16																	1505139		2198	4300	6498	SO:0001587	stop_gained	1186	exon12			ACCTCCGAGTCAA	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1094C>A	16.37:g.1505139G>T	ENSP00000372193:p.Ser365*		89	0	0		89	0.06	5	NM_001287	33	0	0	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Nonsense_Mutation	SNP	ENST00000382745.4	37	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258994	0.59321	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	.	.	.	5.11	2.98	0.34508	.	0.198970	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.875	10.0015	0.41931	0.0:0.2763:0.5816:0.1421	.	.	.	.	X	341;318;365;307	.	ENSP00000262318:S318X	S	-	2	0	CLCN7	1445140	0.335000	0.24748	0.766000	0.31476	0.253000	0.25986	0.632000	0.24583	1.094000	0.41399	0.313000	0.20887	TCG			0.532	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103598.2		NM_001287		T	1505139	G	T	1505139	4	4	28	1	0	0	0	0	0	1	0	0	3470	1059	37	1	1379	1	CLCN7	16	1505139	Nonsense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		1505139	88849614	53	1937											
VAT1L	57687	mdanderson.org	37	chr16	77822666	77822666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggcggagggcggcggCggcgacggctcgcaccgcct	4	2	20	15	9	0	0	0	0	0	0	1	3	0	1	3	7	1	2	3	7	0	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr16:77822666C>T	ENST00000302536.2	+	1	240	c.87C>T	c.(85-87)ggC>ggT	p.G29G		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	29							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGGGCGGCGGCGGCGACGGCT	0.706																																					p.G29G													.	.			0			c.C87T												11	12	11					16																	77822666		2069	4027	6096	SO:0001819	synonymous_variant	57687	exon1			CGGCGGCGGCGAC	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.87C>T	16.37:g.77822666C>T			31	0	0		21	0.1	2	NM_020927	0		0	Q8IYW8	Silent	SNP	ENST00000302536.2	37	CCDS32492.1																																																																																					0.706	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434010.1		NM_020927		T	77822666	C	T	77822666	2	4	28	1	0	0	0	0	0	0	0	1	17154	755	27	1		1	VAT1L	16	77822666	Silent	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	76317527	77822666	12532087	54	1938											
SLC7A5	8140	mdanderson.org	37	chr16	87870225	87870225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacggagaagatgtccttgGagaaggcgtagagcagcgtc	11	7	16	7	3	0	5	0	1	0	4	2	7	1	5	1	3	2	2	1	3	3	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr16:87870225G>T	ENST00000261622.4	-	8	1234	c.1169C>A	c.(1168-1170)tCc>tAc	p.S390Y	SLC7A5_ENST00000565644.1_Missense_Mutation_p.S124Y|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	390					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GATGTCCTTGGAGAAGGCGTA	0.617																																					p.S390Y													.	.			0			c.C1169A												92	86	88					16																	87870225		2198	4300	6498	SO:0001583	missense	8140	exon8			TCCTTGGAGAAGG	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1169C>A	16.37:g.87870225G>T	ENSP00000261622:p.Ser390Tyr		26	0	0		15	0.2	3	NM_003486	71	0	0	Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372495	0.82573	.	.	ENSG00000103257	ENST00000261622	D	0.90324	-2.65	5.4	4.44	0.53790	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	M	0.69358	2.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.94281	0.7520	10	0.72032	D	0.01	.	13.1194	0.59316	0.0772:0.0:0.9228:0.0	.	390	Q01650	LAT1_HUMAN	Y	390	ENSP00000261622:S390Y	ENSP00000261622:S390Y	S	-	2	0	SLC7A5	86427726	1.000000	0.71417	0.927000	0.36925	0.798000	0.45092	9.472000	0.97709	1.278000	0.44430	0.650000	0.86243	TCC			0.617	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269110.2		NM_003486		T	87870225	G	T	87870225	3	4	28	1	0	0	0	0	1	0	0	0	14723	1174	41	3	366	3	SLC7A5	16	87870225	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	10047559	87870225	2484528	55	1939											
C16orf7	9605	broad.mit.edu;mdanderson.org	37	chr16	89782892	89782892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttacagctttgtgactctgCcccctgaagcttctggaaga	8	12	9	12	0	2	3	0	2	2	1	2	4	2	4	2	1	4	2	2	1	3	3			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr16:89782892C>T	ENST00000389386.3	-	4	533	c.409G>A	c.(409-411)Gca>Aca	p.A137T	VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1_ENST00000561976.1_Missense_Mutation_p.A67T|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	137					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TGTGACTCTGCCCCCTGAAGC	0.542																																					p.A137T													.	.			0			c.G409A												212	230	224					16																	89782892		1911	4125	6036	SO:0001583	missense	9605	exon4			ACTCTGCCCCCTG	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.409G>A	16.37:g.89782892C>T	ENSP00000374037:p.Ala137Thr		98	0	0		68	0.06	4	NM_004913	30	0	0		Missense_Mutation	SNP	ENST00000389386.3	37	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	c	16.32	3.089801	0.55968	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	.	.	.	5.18	5.18	0.71444	.	0.256079	0.38272	N	0.001746	T	0.40979	0.1139	L	0.46157	1.445	0.09310	N	0.999997	B	0.30482	0.281	B	0.22601	0.04	T	0.44251	-0.9340	9	0.59425	D	0.04	-31.6851	14.2002	0.65699	0.0:1.0:0.0:0.0	.	137	Q9Y2B5	CP007_HUMAN	T	137;168	.	ENSP00000261625:A168T	A	-	1	0	C16orf7	88310393	0.109000	0.22037	0.009000	0.14445	0.850000	0.48378	3.519000	0.53458	2.398000	0.81561	0.486000	0.48141	GCA			0.542	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422508.1		NM_004913		T	89782892	C	T	89782892	3	4	28	1	0	0	0	0	1	0	0	0	1830	739	26	2	1534	2	C16orf7	16	89782892	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	1912667	89782892	571861	56	1940											
DERL2	51009	broad.mit.edu	37	chr17	5383846	5383846	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggctccacacatagacGagcattattgtaaaggcctg	11	10	9	11	2	0	1	0	0	0	1	2	2	1	1	2	2	1	3	2	2	4	5	rs143440894		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr17:5383846G>T	ENST00000158771.4	-	5	439	c.384C>A	c.(382-384)ctC>ctA	p.L128L	DERL2_ENST00000571968.1_5'Flank|DERL2_ENST00000570848.1_Intron|DERL2_ENST00000572834.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	128					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						ACACATAGACGAGCATTATTG	0.453																																					p.L128L													.	DERL2	15		0			c.C384A												115	124	121					17																	5383846		2203	4300	6503	SO:0001819	synonymous_variant	51009	exon5			ATAGACGAGCATT	BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"Der1-like domain family, member 2"			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.384C>A	17.37:g.5383846G>T			373	0	0		436	0.01	6	NM_016041	230	0	0	Q9Y3A7	Silent	SNP	ENST00000158771.4	37	CCDS11073.1																																																																																					0.453	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219825.1		NM_016041		T	5383846	G	T	5383846	2	4	28	1	0	0	0	0	0	0	0	1	4452	1045	37	1		1	DERL2	17	5383846	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		5383846	75811364	57	1941											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		167	0.0359281437	6		211	0.07	15	NM_145301	40	0.55	22	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	28	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	10073241	15457087	65738123	58	1942											
PLCD3	113026	mdanderson.org	37	chr17	43195379	43195379	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgaaggcatggtcgcgCacggcttggaccacgtcccg	7	6	14	14	6	0	1	0	1	0	0	2	2	1	2	3	4	0	3	3	4	1	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr17:43195379C>A	ENST00000322765.5	-	7	1355	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	414	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				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						CATGGTCGCGCACGGCTTGGA	0.652																																					.													.	.			0			.												32	40	37					17																	43195379		2137	4241	6378	SO:0001819	synonymous_variant	113026	.			GTCGCGCACGGCT	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.1242G>T	17.37:g.43195379C>A			48	0	0		45	0.07	3	.	46	0	0	Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37																																																																																						0.652	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_133373		A	43195379	C	A	43195379	2	1	28	1	0	0	0	0	0	0	0	1	12049	697	25	2		2	PLCD3	17	43195379	Silent	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	27738292	43195379	37999831	59	1943											
LAMA1	284217	mdanderson.org	37	chr18	6950970	6950970	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcttagctcaaccgagagCctggggaaaacaagtgctca	13	7	11	10	1	2	1	2	0	0	1	2	3	2	2	2	2	6	3	2	2	5	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr18:6950970C>A	ENST00000389658.3	-	58	8301	c.8208G>T	c.(8206-8208)aaG>aaT	p.K2736N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2736	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAACCGAGAGCCTGGGGAAAA	0.473																																					p.K2736N													.	.			0			c.G8208T												46	42	43					18																	6950970		2203	4300	6503	SO:0001630	splice_region_variant	284217	exon58			CGAGAGCCTGGGG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8208-1G>T	18.37:g.6950970C>A			47	0	0		20	0.1	2	NM_005559	64	0	0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432662	0.25813	.	.	ENSG00000101680	ENST00000389658	T	0.68624	-0.34	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.310546	0.33591	N	0.004754	T	0.59998	0.2235	L	0.51422	1.61	0.36696	D	0.879837	P;P	0.36789	0.561;0.57	B;B	0.35114	0.118;0.196	T	0.66866	-0.5815	10	0.38643	T	0.18	.	13.1334	0.59395	0.0:0.9165:0.0:0.0835	.	2736;66	P25391;B3KSD8	LAMA1_HUMAN;.	N	2736	ENSP00000374309:K2736N	ENSP00000374309:K2736N	K	-	3	2	LAMA1	6940970	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	0.892000	0.28322	2.581000	0.87130	0.561000	0.74099	AAG			0.473	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257369.1		NM_005559	Missense_Mutation	A	6950970	C	A	6950970	5	1	28	1	0	0	0	0	0	0	1	0	8620	753	26	2	1043	2	LAMA1	18	6950970	Splice_Site	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10		6950970	71126278	60	1944											
CIDEA	1149	mdanderson.org	37	chr18	12254390	12254390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggatccgcgccatggaggCcgcccgggactatgcaggag	7	4	18	12	4	0	0	0	0	0	0	1	4	1	4	4	6	1	1	4	6	1	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr18:12254390C>A	ENST00000320477.9	+	1	73	c.8C>A	c.(7-9)gCc>gAc	p.A3D		NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	3					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						GCCATGGAGGCCGCCCGGGAC	0.706																																					p.A3D													.	.			0			c.C8A												28	29	29					18																	12254390		2200	4294	6494	SO:0001583	missense	1149	exon1			TGGAGGCCGCCCG	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.8C>A	18.37:g.12254390C>A	ENSP00000320209:p.Ala3Asp		26	0	0		19	0.16	3	NM_001279	1	0	0	B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473643	0.26423	.	.	ENSG00000176194	ENST00000320477	T	0.44881	0.91	2.52	-0.879	0.10613	.	.	.	.	.	T	0.20455	0.0492	N	0.14661	0.345	0.09310	N	0.999999	B	0.19583	0.037	B	0.15870	0.014	T	0.16808	-1.0390	9	0.33940	T	0.23	.	3.4016	0.07325	0.0:0.3305:0.2128:0.4567	.	3	O60543	CIDEA_HUMAN	D	3	ENSP00000320209:A3D	ENSP00000320209:A3D	A	+	2	0	CIDEA	12244390	0.000000	0.05858	0.781000	0.31783	0.860000	0.49131	-0.730000	0.04915	-0.212000	0.10109	0.313000	0.20887	GCC			0.706	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254599.2		NM_001279		A	12254390	C	A	12254390	3	1	28	1	0	0	0	0	1	0	0	0	3427	739	26	2	10	2	CIDEA	18	12254390	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10	5303420	12254390	65822858	61	1945											
ATP4A	495	mdanderson.org	37	chr19	36050969	36050969	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaccaccaggccctgcAcggtgcctgcaggggggcca	6	6	14	15	1	1	0	1	0	0	0	1	0	1	0	5	5	3	3	5	5	0	1	rs2733743	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:36050969A>T	ENST00000262623.3	-	7	822	c.794T>A	c.(793-795)gTg>gAg	p.V265E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	265			V -> A (in dbSNP:rs2733743). {ECO:0000269|PubMed:2160952}.		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)	CAGGCCCTGCACGGTGCCTGC	0.662																																					p.V265E													.	.			0			c.T794A												37	33	34					19																	36050969		2203	4299	6502	SO:0001583	missense	495	exon7			CCCTGCACGGTGC		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.794T>A	19.37:g.36050969A>T	ENSP00000262623:p.Val265Glu		51	0	0		47	0.04	2	NM_000704	0		0	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857503	0.32791	.	.	ENSG00000105675	ENST00000262623	D	0.91068	-2.78	4.08	3.01	0.34805	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000008	D	0.82903	0.5138	L	0.27053	0.805	0.36535	P	0.12901700000000005	B	0.22746	0.074	B	0.23852	0.049	T	0.80473	-0.1367	9	0.87932	D	0	.	7.5285	0.27668	0.0964:0.1674:0.7361:0.0	.	265	P20648	ATP4A_HUMAN	E	265	ENSP00000262623:V265E	ENSP00000262623:V265E	V	-	2	0	ATP4A	40742809	1.000000	0.71417	0.008000	0.14137	0.249000	0.25844	7.772000	0.85439	0.482000	0.27582	-0.224000	0.12420	GTG			0.662	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109470.2		NM_000704		T	36050969	A	T	36050969	3	4	28	1	0	0	0	0	1	0	0	0	1145	159	6	5	2377	5	ATP4A	19	36050969	Missense_Mutation	SNP	A	TCGA-2G-AAGF-01A-31D-A42Y-10		36050969	23078014	62	1946											
WDR62	284403	mdanderson.org	37	chr19	36577593	36577593	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcctctcacagggctGaccttgctggcctcagccag	5	11	9	16	0	3	1	2	1	2	0	6	1	4	1	4	2	2	2	4	2	0	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:36577593G>T	ENST00000270301.7	+	13	1647	c.1647G>T	c.(1645-1647)ctG>ctT	p.L549L	WDR62_ENST00000401500.2_Silent_p.L549L			O43379	WDR62_HUMAN	WD repeat domain 62	549					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)			TCACAGGGCTGACCTTGCTGG	0.607																																					p.L549L													.	.			0			c.G1647T												51	35	40					19																	36577593		2202	4300	6502	SO:0001819	synonymous_variant	284403	exon13			AGGGCTGACCTTG	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.1647G>T	19.37:g.36577593G>T			48	0	0		49	0.06	3	NM_001083961	12	0	0	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	CCDS33001.1																																																																																					0.607	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000457436.1		NM_015671		T	36577593	G	T	36577593	2	4	28	1	0	0	0	0	0	0	0	1	17337	1277	45	3		3	WDR62	19	36577593	Silent	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	526624	36577593	22551390	63	1947											
FCGBP	8857	broad.mit.edu	37	chr19	40392050	40392050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgctggatgggcacgcagGcttggccgttgtagaggaag	8	9	17	7	2	0	1	0	0	0	1	0	3	0	3	1	5	1	6	1	5	2	4			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:40392050G>A	ENST00000221347.6	-	17	8343	c.8336C>T	c.(8335-8337)gCc>gTc	p.A2779V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2779	Cys-rich.|TIL 6.					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)			GGGCACGCAGGCTTGGCCGTT	0.607																																					p.A2779V													.	FCGBP	416		0			c.C8336T												40	39	40					19																	40392050		2185	4297	6482	SO:0001583	missense	8857	exon17			ACGCAGGCTTGGC	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.8336C>T	19.37:g.40392050G>A	ENSP00000221347:p.Ala2779Val		284	0	0		265	0.02	4	NM_003890	21	0	0	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	0.693	-0.793780	0.02862	.	.	ENSG00000090920	ENST00000221347	D	0.90844	-2.74	2.66	1.55	0.23275	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	1.572440	0.04474	U	0.376608	D	0.90147	0.6921	N	0.16903	0.455	0.09310	N	1	D	0.60160	0.987	D	0.65140	0.932	T	0.80946	-0.1155	10	0.27785	T	0.31	.	10.0626	0.42284	0.0:0.3955:0.6045:0.0	.	2779	Q9Y6R7	FCGBP_HUMAN	V	2779	ENSP00000221347:A2779V	ENSP00000221347:A2779V	A	-	2	0	FCGBP	45083890	0.000000	0.05858	0.246000	0.24233	0.021000	0.10359	-1.739000	0.01840	0.421000	0.25980	0.298000	0.19748	GCC			0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462507.1		NM_003890		A	40392050	G	A	40392050	3	1	28	1	0	0	0	0	1	0	0	0	5791	1203	42	2	7961	2	FCGBP	19	40392050	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	3814457	40392050	18736933	64	1948											
ETHE1	23474	mdanderson.org	37	chr19	44011048	44011048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcatgttggctggaacaGcaaagtctgaaaggaagaaa	16	6	13	6	1	1	2	0	1	1	1	1	4	1	4	0	3	3	4	0	3	5	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:44011048G>A	ENST00000292147.2	-	7	785	c.719C>T	c.(718-720)gCt>gTt	p.A240V	PHLDB3_ENST00000292140.5_5'Flank|PHLDB3_ENST00000599242.1_5'Flank	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	240					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|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)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)	p.A240V(1)		central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GGCTGGAACAGCAAAGTCTGA	0.507																																					p.A240V													ETHE1,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	ETHE1	0	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.C719T												89	84	86					19																	44011048		2203	4300	6503	SO:0001583	missense	23474	exon7			GGAACAGCAAAGT		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.719C>T	19.37:g.44011048G>A	ENSP00000292147:p.Ala240Val		30	0	0		33	0.09	3	NM_014297	282	0	0	Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	37	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436429	0.83885	.	.	ENSG00000105755	ENST00000292147	D	0.95724	-3.79	4.96	4.96	0.65561	.	0.137767	0.48767	D	0.000164	D	0.97711	0.9249	M	0.87381	2.88	0.50813	D	0.999894	D	0.76494	0.999	D	0.66602	0.945	D	0.98494	1.0611	10	0.87932	D	0	-20.6504	16.1381	0.81502	0.0:0.0:1.0:0.0	.	240	O95571	ETHE1_HUMAN	V	240	ENSP00000292147:A240V	ENSP00000292147:A240V	A	-	2	0	ETHE1	48702888	1.000000	0.71417	0.759000	0.31340	0.916000	0.54674	5.407000	0.66363	2.479000	0.83701	0.485000	0.47835	GCT			0.507	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463184.1		NM_014297		A	44011048	G	A	44011048	3	1	28	1	0	0	0	0	1	0	0	0	5279	971	34	2	49	2	ETHE1	19	44011048	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	3618998	44011048	15117935	65	1949											
RTN2	6253	broad.mit.edu;mdanderson.org	37	chr19	45992653	45992653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggcctgcagcactttgcGgtaaaccctgagagagatgg	10	7	13	11	2	0	2	0	1	0	2	0	4	0	2	2	3	4	3	2	3	2	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:45992653G>A	ENST00000245923.4	-	6	1427	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	RTN2_ENST00000430715.2_Missense_Mutation_p.R58C|RTN2_ENST00000590526.1_Missense_Mutation_p.R124C|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.R325C	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	398	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				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)		p.R398C(1)		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)		AGCACTTTGCGGTAAACCCTG	0.627																																					p.R398C													RTN2,caecum,carcinoma,+1,2	RTN2	45	2	1	Substitution - Missense(1)	ovary(1)	c.C1192T												45	33	37					19																	45992653		2202	4299	6501	SO:0001583	missense	6253	exon6			CTTTGCGGTAAAC	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.1192C>T	19.37:g.45992653G>A	ENSP00000245923:p.Arg398Cys		46	0.0217391304	1		51	0.06	3	NM_005619	56	0	0	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671235	0.47781	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.44881	0.91;0.91;0.91	4.55	4.55	0.56014	.	0.299715	0.33438	N	0.004902	T	0.34890	0.0913	N	0.08118	0	0.80722	D	1	D;P	0.64830	0.994;0.646	P;B	0.53649	0.731;0.087	T	0.38499	-0.9658	10	0.72032	D	0.01	-7.7129	12.73	0.57193	0.0:0.0:1.0:0.0	.	325;398	O75298-2;O75298	.;RTN2_HUMAN	C	325;398;58	ENSP00000345127:R325C;ENSP00000245923:R398C;ENSP00000398178:R58C	ENSP00000245923:R398C	R	-	1	0	RTN2	50684493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.236000	0.43052	2.376000	0.81061	0.558000	0.71614	CGC			0.627	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000459574.1		NM_005619		A	45992653	G	A	45992653	3	1	28	1	0	0	0	0	1	0	0	0	13749	1116	39	1	469	1	RTN2	19	45992653	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	1981605	45992653	13136330	66	1950											
SCAND1	51282	mdanderson.org	37	chr20	34542028	34542028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctcggggcgtagggatgGcttcagggaccgcggcgttg	5	7	19	10	5	1	0	1	0	0	0	2	2	1	2	1	6	1	4	1	6	1	3			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr20:34542028G>A	ENST00000373991.3	-	3	1249	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SCAND1_ENST00000305978.2_Missense_Mutation_p.A60V			P57086	SCND1_HUMAN	SCAN domain containing 1	60					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|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)					Breast(12;0.00631)|all_lung(11;0.0233)					CGTAGGGATGGCTTCAGGGAC	0.716																																					p.A123V													.	.			0			c.C368T												5	5	5					20																	34542028		2024	4031	6055	SO:0001583	missense	51282	exon2			GGGATGGCTTCAG	AF204271	CCDS13269.1	20q11.1-q11.23	2013-01-08	2002-01-14		ENSG00000171222	ENSG00000171222		"-"	10566	protein-coding gene	gene with protein product		610416	"SCAN domain-containing 1"			10777584, 10747874, 12444922	Standard	NM_016558		Approved	SDP1, RAZ1	uc002xen.2	P57086	OTTHUMG00000032370	ENST00000373991.3:c.179C>T	20.37:g.34542028G>A	ENSP00000363103:p.Ala60Val		38	0	0		44	0.07	3	NM_033630	290	0	0	Q6IAG7	Missense_Mutation	SNP	ENST00000373991.3	37	CCDS13269.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738747	0.89573	.	.	ENSG00000171222	ENST00000305978;ENST00000373991	T;T	0.09073	3.02;3.02	4.93	3.95	0.45737	.	0.000000	0.33591	U	0.004744	T	0.10637	0.0260	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.59115	0.852	T	0.12941	-1.0528	10	0.36615	T	0.2	.	6.1035	0.20061	0.0962:0.0:0.715:0.1888	.	60	P57086	SCND1_HUMAN	V	60	ENSP00000301995:A60V;ENSP00000363103:A60V	ENSP00000301995:A60V	A	-	2	0	SCAND1	34005442	0.000000	0.05858	0.037000	0.18230	0.069000	0.16628	0.013000	0.13310	1.009000	0.39289	0.655000	0.94253	GCC			0.716	SCAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078958.2		NM_016558		A	34542028	G	A	34542028	3	1	28	1	0	0	0	0	1	0	0	0	13898	1203	42	2	364	2	SCAND1	20	34542028	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		34542028	28483492	67	1951											
MYT1	4661	broad.mit.edu	37	chr20	62848481	62848482	+	Frame_Shift_Ins	INS	-	-	C																															gagctaccggcccaacgtggINScccccgccacacccagggcc																										TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr20:62848481_62848482insC	ENST00000328439.1	+	11	2057_2058	c.1693_1694insC	c.(1693-1695)gccfs	p.A565fs	MYT1_ENST00000536311.1_Frame_Shift_Ins_p.A565fs|MYT1_ENST00000360149.4_Frame_Shift_Ins_p.A267fs	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCCAACGTGGCCCCCGCCACA	0.594																																					p.A565fs	GBM(59;481 1041 20555 21139 33705)												.	MYT1	152		0			c.1693_1694insC																																									SO:0001589	frameshift_variant	4661	exon11			AACGTGGCCCCCG	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1698dupC	20.37:g.62848486_62848486dupC	ENSP00000327465:p.Ala565fs		75	0	0		104	0.06	6	NM_004535	0		0	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Ins	INS	ENST00000328439.1	37	CCDS13558.1																																																																																					0.594	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080297.1		NM_004535		C	62848482	-	C	62848481	7	5	28	1	0	1	1	0	0	0	0	0	10122	1203	42	0	1727	0	MYT1	20	62848481	Frame_Shift_Ins	INS	-	TCGA-2G-AAGF-01A-31D-A42Y-10	28306453	62848481	177039	68	1952											
TRAPPC10	7109	broad.mit.edu;mdanderson.org	37	chr21	45507655	45507655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtctgcctgttgcgcctgCgtaccacgtgatcgaatttg	6	12	11	12	4	1	1	0	1	1	0	2	2	1	1	3	0	4	2	3	0	2	3			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr21:45507655C>T	ENST00000291574.4	+	17	2790	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	872					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						GTTGCGCCTGCGTACCACGTG	0.557																																					p.A872V													.	TRAPPC10	109		0			c.C2615T												113	97	102					21																	45507655		2203	4300	6503	SO:0001583	missense	7109	exon17			CGCCTGCGTACCA	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.2615C>T	21.37:g.45507655C>T	ENSP00000291574:p.Ala872Val		51	0	0		77	0.05	4	NM_003274	22	0	0	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761912	0.49468	.	.	ENSG00000160218	ENST00000291574	T	0.25912	1.77	5.2	5.2	0.72013	.	0.118199	0.56097	D	0.000025	T	0.17492	0.0420	L	0.27053	0.805	0.51767	D	0.999938	P	0.38395	0.629	B	0.29663	0.105	T	0.05053	-1.0909	10	0.20519	T	0.43	.	18.7251	0.91711	0.0:1.0:0.0:0.0	.	872	P48553	TPC10_HUMAN	V	872	ENSP00000291574:A872V	ENSP00000291574:A872V	A	+	2	0	TRAPPC10	44332083	1.000000	0.71417	0.860000	0.33809	0.021000	0.10359	6.913000	0.75759	2.419000	0.82065	0.563000	0.77884	GCG			0.557	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000195737.1		NM_003274		T	45507655	C	T	45507655	3	4	28	1	0	0	0	0	1	0	0	0	16481	768	27	1	2681	1	TRAPPC10	21	45507655	Missense_Mutation	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10		45507655	2622240	69	1953											
ADORA2A	135	bcgsc.ca	37	chr22	24837218	24837218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggcagtgacggagagcagGtcagcctccgtctcaacggc	9	6	14	12	3	2	2	2	1	1	1	4	3	3	2	2	4	3	2	2	4	1	0			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr22:24837218G>T	ENST00000337539.7	+	3	1459	c.1000G>T	c.(1000-1002)Gtc>Ttc	p.V334F	ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	334					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CGGAGAGCAGGTCAGCCTCCG	0.647																																					p.V334F													.	ADORA2A	44		0			c.G1000T												37	30	32					22																	24837218		2202	4300	6502	SO:0001583	missense	135	exon3			GAGCAGGTCAGCC	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.1000G>T	22.37:g.24837218G>T	ENSP00000336630:p.Val334Phe		43	0	0		44	0.09	4	NM_000675	66	0	0	B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425014	0.43020	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.65549	-0.13;-0.16	4.95	-1.37	0.09056	.	0.498482	0.18404	N	0.142267	T	0.43433	0.1247	L	0.46157	1.445	0.27558	N	0.950288	B	0.19445	0.036	B	0.18871	0.023	T	0.27157	-1.0082	10	0.09338	T	0.73	-21.1119	5.653	0.17627	0.2918:0.2711:0.4371:0.0	.	334	P29274	AA2AR_HUMAN	F	334	ENSP00000414802:V334F;ENSP00000336630:V334F	ENSP00000336630:V334F	V	+	1	0	ADORA2A	23167218	0.042000	0.20092	0.973000	0.42090	0.975000	0.68041	0.170000	0.16663	0.138000	0.18790	0.462000	0.41574	GTC			0.647	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319971.2		NM_000675		T	24837218	G	T	24837218	3	4	28	1	0	0	0	0	1	0	0	0	327	1261	44	3	1006	3	ADORA2A	22	24837218	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10		24837218	26467348	70	1954											
MYH9	4627	mdanderson.org	37	chr22	36745272	36745272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatacttatcggcagcttGctgtgccatggtgacttata	9	13	11	8	1	0	2	0	1	0	1	1	3	0	2	1	2	4	3	1	2	4	5			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr22:36745272G>T	ENST00000216181.5	-	2	240	c.10C>A	c.(10-12)Caa>Aaa	p.Q4K	MYH9_ENST00000401701.1_Missense_Mutation_p.Q4K	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	4					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCGGCAGCTTGCTGTGCCATG	0.512			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																												p.Q4K				Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	.	.			0			c.C10A												45	46	46					22																	36745272		2203	4300	6503	SO:0001583	missense	4627	exon2	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	CAGCTTGCTGTGC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.10C>A	22.37:g.36745272G>T	ENSP00000216181:p.Gln4Lys		50	0	0		37	0.08	3	NM_002473	34	0	0	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	3.998	-0.003139	0.07773	.	.	ENSG00000100345	ENST00000216181;ENST00000401701;ENST00000456729	D;T;T	0.84800	-1.9;-1.25;-1.09	5.32	5.32	0.75619	.	0.303685	0.31989	N	0.006754	T	0.74981	0.3788	N	0.22421	0.69	0.28337	N	0.921528	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.63598	-0.6601	10	0.28530	T	0.3	.	12.1932	0.54282	0.0:0.0:0.7105:0.2895	.	4;4	Q5BKV1;P35579	.;MYH9_HUMAN	K	4	ENSP00000216181:Q4K;ENSP00000384631:Q4K;ENSP00000414852:Q4K	ENSP00000216181:Q4K	Q	-	1	0	MYH9	35075218	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.810000	0.47979	2.491000	0.84063	0.563000	0.77884	CAA			0.512	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000259110.3		NM_002473		T	36745272	G	T	36745272	3	4	28	1	0	0	0	0	1	0	0	0	10058	1328	46	2	6032	2	MYH9	22	36745272	Missense_Mutation	SNP	G	TCGA-2G-AAGF-01A-31D-A42Y-10	11908054	36745272	14559294	71	1955											
PIM3	415116	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	50355011	50355011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggtgaccgagtggggcAgcctggtaagttggggcacg	7	6	20	8	3	0	1	0	1	0	0	0	2	0	1	2	6	2	4	2	6	1	2			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr22:50355011A>G	ENST00000360612.4	+	3	676	c.241A>G	c.(241-243)Agc>Ggc	p.S81G		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGTGGGGCAGCCTGGTAAG	0.756																																					p.S81G													.	.			0			c.A241G												5	7	7					22																	50355011		1644	3292	4936	SO:0001583	missense	415116	exon3			TGGGGCAGCCTGG	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"pim-3 oncogene"			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.241A>G	22.37:g.50355011A>G	ENSP00000353824:p.Ser81Gly		115	0	0		116	0.17	20	NM_001001852	12	0.42	5	A5D8X8|A8K7J0|B1B0P0|Q68BM2	Missense_Mutation	SNP	ENST00000360612.4	37	CCDS33678.1	.	.	.	.	.	.	.	.	.	.	a	10.93	1.488760	0.26686	.	.	ENSG00000198355	ENST00000360612	T	0.66099	-0.19	2.44	0.0228	0.14134	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.310687	0.28338	U	0.015708	T	0.41949	0.1181	N	0.20986	0.625	0.19300	N	0.999975	B	0.25351	0.124	B	0.32393	0.145	T	0.25328	-1.0135	10	0.44086	T	0.13	.	3.0972	0.06313	0.6568:0.0:0.1337:0.2095	.	81	Q86V86	PIM3_HUMAN	G	81	ENSP00000353824:S81G	ENSP00000353824:S81G	S	+	1	0	PIM3	48741015	0.000000	0.05858	0.664000	0.29753	0.890000	0.51754	0.102000	0.15272	-0.341000	0.08376	-0.683000	0.03753	AGC			0.756	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317406.1		NM_001001852		G	50355011	A	G	50355011	3	3	28	1	0	0	0	0	1	0	0	0	11946	188	7	4	251	4	PIM3	22	50355011	Missense_Mutation	SNP	A	TCGA-2G-AAGF-01A-31D-A42Y-10	13609739	50355011	949555	72	1956											
IRAK1	3654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153278098	153278098	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatctgcggtggctctgaCgacgatgatgcagagctgcc	9	9	13	10	3	2	3	0	2	2	1	2	5	2	3	1	2	4	3	1	2	1	1			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chrX:153278098C>G	ENST00000369980.3	-	13	2129	c.1962G>C	c.(1960-1962)tcG>tcC	p.S654S	IRAK1_ENST00000393687.2_Silent_p.S624S|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000429936.2_Silent_p.S650S|IRAK1_ENST00000369974.2_Silent_p.S575S|IRAK1_ENST00000393682.1_Silent_p.S635S	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	654	Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|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 apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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 autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	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)					GTGGCTCTGACGACGATGATG	0.627																																					p.S654S													.	.			0			c.G1962C												113	86	95					X																	153278098		2203	4300	6503	SO:0001819	synonymous_variant	3654	exon13			CTCTGACGACGAT	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1962G>C	X.37:g.153278098C>G			74	0	0		89	0.26	23	NM_001569	122	0.22	27	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Silent	SNP	ENST00000369980.3	37	CCDS14740.1	.	.	.	.	.	.	.	.	.	.	C	5.895	0.349281	0.11182	.	.	ENSG00000184216	ENST00000455690;ENST00000437278	T	0.24538	1.85	4.45	-8.89	0.00785	.	.	.	.	.	T	0.19208	0.0461	.	.	.	0.29019	N	0.886429	.	.	.	.	.	.	T	0.33059	-0.9883	5	.	.	.	-2.2946	12.0278	0.53382	0.0:0.5208:0.3347:0.1445	.	.	.	.	P	104;218	ENSP00000411809:R104P	.	R	-	2	0	IRAK1	152931292	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.331000	0.00509	-3.770000	0.00109	-2.479000	0.00199	CGT			0.627	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061143.3				G	153278098	C	G	153278098	2	3	28	1	0	0	0	0	0	0	0	1	7836	523	19	5		5	IRAK1	23	153278098	Silent	SNP	C	TCGA-2G-AAGF-01A-31D-A42Y-10		153278098	1992462	73	1957											
YRDC	79693	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	38270037	38270037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacagttgagccaaggCgacactcggggctctggcca	10	5	12	14	2	1	1	0	1	1	0	2	2	1	1	3	4	2	2	3	4	2	1	rs138070077		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:38270037C>T	ENST00000373044.2	-	4	708	c.704G>A	c.(703-705)cGc>cAc	p.R235H	C1orf122_ENST00000373043.1_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	235	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGAGCCAAGGCGACACTCGGG	0.517																																					p.R235H													YRDC,NS,carcinoma,0,1	YRDC	0	1	0			c.G704A							C	HIS/ARG	0,4406		0,0,2203	94	94	94		704	5.6	1	1	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	missense	YRDC	NM_024640.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	235/280	38270037	2,13004	2203	4300	6503	SO:0001583	missense	79693	exon4			CCAAGGCGACACT		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"ischemia/reperfusion inducible protein"	612276	"yrdC domain containing (E.coli)", "yrdC domain containing (E. coli)"			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.704G>A	1.37:g.38270037C>T	ENSP00000362135:p.Arg235His		153	0	0		156	0.08	13	NM_024640	75	0.05	4	Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Missense_Mutation	SNP	ENST00000373044.2	37	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	C	36	5.744393	0.96882	0.0	2.33E-4	ENSG00000196449	ENST00000373044	.	.	.	5.6	5.6	0.85130	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.56751	0.805	T	0.77752	-0.2470	9	0.87932	D	0	.	19.6223	0.95663	0.0:1.0:0.0:0.0	.	235	Q86U90	YRDC_HUMAN	H	235	.	ENSP00000362135:R235H	R	-	2	0	YRDC	38042624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.657000	0.83745	2.635000	0.89317	0.650000	0.86243	CGC	0		0.517	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012470.1		NM_024640		T	38270037	C	T	38270037	3	4	29	1	0	0	0	0	1	0	0	0	17518	768	27	1	143	1	YRDC	1	38270037	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10		38270037	210980584	1	1958											
ACOT11	26027	mdanderson.org	37	chr1	55070882	55070882	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtgggacaagcactaccGgtgaggggccagggtgaggg	10	4	20	7	1	0	3	0	2	0	1	0	4	0	4	2	6	2	1	2	6	2	1	rs143707794		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:55070882G>T	ENST00000371316.3	+	13	1452	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Splice_Site_p.R457L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	457	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AAGCACTACCGGTGAGGGGCC	0.627																																					p.R457L	Ovarian(148;1440 1861 22015 32453 51933)												.	.			0			c.G1370T												48	40	42					1																	55070882		2203	4300	6503	SO:0001630	splice_region_variant	26027	exon13			ACTACCGGTGAGG	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1370+1G>T	1.37:g.55070882G>T			45	0	0		49	0.06	3	NM_015547	37	0	0	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	7.911	0.736392	0.15574	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.78924	-1.22;-1.22	5.15	3.14	0.36123	Lipid-binding START (3);START-like domain (1);	0.396139	0.29266	N	0.012660	T	0.52853	0.1760	N	0.16567	0.415	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51332	-0.8719	10	0.20519	T	0.43	-17.2617	0.7148	0.00930	0.1919:0.1616:0.3257:0.3209	.	457;457	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	L	457	ENSP00000340260:R457L;ENSP00000360366:R457L	ENSP00000340260:R457L	R	+	2	0	ACOT11	54843470	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.362000	0.34148	2.572000	0.86782	0.491000	0.48974	CGG			0.627	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000027356.1		NM_015547	Missense_Mutation	T	55070882	G	T	55070882	5	4	29	1	0	0	0	0	0	0	1	0	149	1130	39	1	1420	1	ACOT11	1	55070882	Splice_Site	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	16800845	55070882	194179739	2	1959											
LRRC8B	23507	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	90048812	90048812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagctgacatagattcCggcaaacagtcattgcccta	11	11	8	11	1	2	2	2	1	0	1	3	2	3	2	2	1	3	3	2	1	3	5	rs116502828	byFrequency	TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:90048812C>T	ENST00000330947.2	+	5	963	c.603C>T	c.(601-603)tcC>tcT	p.S201S	LRRC8B_ENST00000439853.1_Silent_p.S201S|LRRC8B_ENST00000358200.4_Silent_p.S201S|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	201					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)		ACATAGATTCCGGCAAACAGT	0.522													c|||	26	0.00519169	0.0197	0	5008	,	,		18915	0		0	False		,,,				2504	0				p.S201S													.	.			0			c.C603T							T	,	36,4370	39.2+/-71.8	1,34,2168	55	59	58		603,603	0.9	0	1	dbSNP_132	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRRC8B	NM_001134476.1,NM_015350.2	,	1,34,6468	TT,TC,CC		0.0,0.8171,0.2768	,	201/804,201/804	90048812	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	23507	exon5			AGATTCCGGCAAA	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.603C>T	1.37:g.90048812C>T			79	0	0		70	0.07	5	NM_015350	2	0	0	D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																			0.003		0.522	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000028008.1		NM_015350		T	90048812	C	T	90048812	2	4	29	1	0	0	0	0	0	0	0	1	9038	639	23	1		1	LRRC8B	1	90048812	Silent	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	34977930	90048812	159201809	3	1960											
GFI1	2672	mdanderson.org	37	chr1	92948551	92948551	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcggtcagctgcgattcgggGgacaaacggtcccggggctc	6	7	16	12	5	1	0	1	0	0	0	5	2	2	1	1	6	3	2	1	6	1	1	rs143913803	byFrequency	TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:92948551G>T	ENST00000370332.1	-	3	486	c.168C>A	c.(166-168)tcC>tcA	p.S56S	GFI1_ENST00000294702.5_Silent_p.S56S|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000427103.1_Silent_p.S56S	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	56					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)		GCGATTCGGGGGACAAACGGT	0.642																																					p.S56S													.	.			0			c.C168A												41	51	48					1																	92948551		2203	4299	6502	SO:0001819	synonymous_variant	2672	exon3			TTCGGGGGACAAA	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.168C>A	1.37:g.92948551G>T			26	0	0		17	0.12	2	NM_001127215	2	0	0	Q8N564	Silent	SNP	ENST00000370332.1	37	CCDS30773.1																																																																																					0.642	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030054.1		NM_005263		T	92948551	G	T	92948551	2	4	29	1	0	0	0	0	0	0	0	1	6353	1219	43	3		3	GFI1	1	92948551	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	2899739	92948551	156302070	4	1961											
NBPF14	25832	broad.mit.edu	37	chr1	148009435	148009435	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtcagtcagttcaagacaAcctgaaggagttgaatagca	15	8	11	7	0	3	3	3	2	0	1	3	5	3	4	1	1	2	3	1	1	5	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:148009435A>T	ENST00000369219.1	-	16	1888	c.1872T>A	c.(1870-1872)ggT>ggA	p.G624G				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	624	NBPF 7. {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)					GTTCAAGACAACCTGAAGGAG	0.493																																					p.G624G													.	NBPF14	107		0			c.T1872A												126	257	218					1																	148009435		1699	4065	5764	SO:0001819	synonymous_variant	25832	exon16			AAGACAACCTGAA	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.1872T>A	1.37:g.148009435A>T			516	0	0		355	0.02	7	NM_015383	51	0.02	1	Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	a	3.605	-0.080765	0.07141	.	.	ENSG00000122497	ENST00000310701	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28808	-1.0032	1	.	.	.	.	.	.	.	.	.	.	.	D	630	.	.	V	-	2	0	NBPF14	146476059	0.986000	0.35501	.	.	.	.	0.724000	0.25954	.	.	.	.	GTT			0.493	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_015383		T	148009435	A	T	148009435	2	4	29	1	0	0	0	0	0	0	0	1	10211	30	2	5		5	NBPF14	1	148009435	Silent	SNP	A	TCGA-2G-AAGG-01A-11D-A42Y-10	55060884	148009435	101241186	5	1962											
KCNJ10	3766	mdanderson.org	37	chr1	160011301	160011301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacagtgctgtcacggaggCcactaggagaggccactttc	9	8	13	11	1	1	1	1	0	0	1	2	3	1	2	2	4	2	2	2	4	2	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:160011301C>T	ENST00000368089.3	-	2	1248	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	341					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GTCACGGAGGCCACTAGGAGA	0.517																																					p.G341D	GBM(167;1368 2014 14817 36425 43215)												.	.			0			c.G1022A												111	91	98					1																	160011301		2203	4300	6503	SO:0001583	missense	3766	exon2			CGGAGGCCACTAG	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.1022G>A	1.37:g.160011301C>T	ENSP00000357068:p.Gly341Asp		105	0	0		118	0.04	5	NM_002241	0		0	A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882838	0.33255	.	.	ENSG00000177807	ENST00000368089	D	0.88124	-2.34	5.09	5.09	0.68999	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.550760	0.18065	N	0.152818	T	0.72534	0.3472	N	0.19112	0.55	0.37442	D	0.914455	B	0.15930	0.015	B	0.13407	0.009	T	0.71300	-0.4634	10	0.72032	D	0.01	.	16.0349	0.80617	0.0:1.0:0.0:0.0	.	341	P78508	IRK10_HUMAN	D	341	ENSP00000357068:G341D	ENSP00000357068:G341D	G	-	2	0	KCNJ10	158277925	0.358000	0.24947	0.998000	0.56505	0.997000	0.91878	1.636000	0.37144	2.662000	0.90505	0.655000	0.94253	GGC			0.517	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060629.1		NM_002241		T	160011301	C	T	160011301	3	4	29	1	0	0	0	0	1	0	0	0	8059	739	26	2	121	2	KCNJ10	1	160011301	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	12001866	160011301	89239320	6	1963											
CR1	1378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	207787775	207787775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaaggcaggtctgctaGtcattgtgtcttggctggaa	10	13	12	6	0	3	0	1	0	2	0	3	1	3	1	0	4	1	3	0	4	4	4			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:207787775G>A	ENST00000367049.4	+	40	6602	c.6602G>A	c.(6601-6603)aGt>aAt	p.S2201N	CR1_ENST00000367053.1_Missense_Mutation_p.S1751N|CR1_ENST00000367052.1_Missense_Mutation_p.S1751N|CR1_ENST00000367051.1_Missense_Mutation_p.S1751N|CR1_ENST00000400960.2_Missense_Mutation_p.S1751N	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1751					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGTCTGCTAGTCATTGTGTC	0.413																																					p.S2201N													.	.			0			c.G6602A												119	110	113					1																	207787775		1867	4104	5971	SO:0001583	missense	1378	exon40			CTGCTAGTCATTG	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6602G>A	1.37:g.207787775G>A	ENSP00000356016:p.Ser2201Asn		101	0	0		100	0.31	31	NM_000651	2	0	0	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184850	0.57909	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	4.29	3.34	0.38264	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.78805	0.4341	M	0.90483	3.12	0.09310	N	0.999999	B;D	0.65815	0.152;0.995	B;D	0.65140	0.063;0.932	T	0.66901	-0.5806	9	0.51188	T	0.08	.	7.8847	0.29642	0.1278:0.0:0.8722:0.0	.	1751;2201	P17927;E9PDY4	CR1_HUMAN;.	N	1751;1751;1751;1751;2201	ENSP00000356019:S1751N;ENSP00000356018:S1751N;ENSP00000356020:S1751N;ENSP00000383744:S1751N;ENSP00000356016:S2201N	ENSP00000356016:S2201N	S	+	2	0	CR1	205854398	0.642000	0.27260	0.124000	0.21820	0.383000	0.30230	1.749000	0.38319	1.044000	0.40200	0.436000	0.28706	AGT			0.413	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382527.1		NM_000573		A	207787775	G	A	207787775	3	1	29	1	0	0	0	0	1	0	0	0	3842	1029	36	3	6760	3	CR1	1	207787775	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	47776474	207787775	41462846	7	1964											
CDC42BPA	8476	broad.mit.edu	37	chr1	227441766	227441766	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatcttaatctcttaccTccccaaaagctcctcgacca	12	11	2	16	1	3	0	1	0	2	0	7	1	5	0	5	0	2	1	5	0	5	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:227441766T>C	ENST00000366769.3	-	2	1560	c.269A>G	c.(268-270)gAg>gGg	p.E90G	CDC42BPA_ENST00000366766.2_Splice_Site_p.E90G|CDC42BPA_ENST00000334218.5_Splice_Site_p.E90G|CDC42BPA_ENST00000366767.3_Splice_Site_p.E90G|CDC42BPA_ENST00000535525.1_Splice_Site_p.E90G|CDC42BPA_ENST00000366765.3_Splice_Site_p.E90G|CDC42BPA_ENST00000366764.2_Splice_Site_p.E90G	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATCTCTTACCTCCCCAAAAGC	0.328																																					p.E90G													.	CDC42BPA	528		0			c.A269G												150	149	149					1																	227441766		2203	4297	6500	SO:0001630	splice_region_variant	8476	exon2			CTTACCTCCCCAA	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.270+1A>G	1.37:g.227441766T>C			163	0	0		166	0.03	5	NM_003607	2	0	0		Splice_Site	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672004	0.88348	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84647	0.5518	M	0.89968	3.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.989;0.999;0.989;0.994	D	0.88122	0.2832	10	0.87932	D	0	.	14.7923	0.69851	0.0:0.0:0.0:1.0	.	90;90;90;90	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	G	90	ENSP00000355731:E90G;ENSP00000355729:E90G;ENSP00000335341:E90G;ENSP00000355728:E90G;ENSP00000355726:E90G;ENSP00000443275:E90G;ENSP00000355727:E90G	ENSP00000335341:E90G	E	-	2	0	CDC42BPA	225508389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.278000	0.78587	1.974000	0.57490	0.460000	0.39030	GAG			0.328	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091696.1		NM_014826	Missense_Mutation	C	227441766	T	C	227441766	5	2	29	1	0	0	0	0	0	0	1	0	3074	1565	54	4	5030	4	CDC42BPA	1	227441766	Splice_Site	SNP	T	TCGA-2G-AAGG-01A-11D-A42Y-10	19653991	227441766	21808855	8	1965											
TRIM67	440730	mdanderson.org	37	chr1	231298836	231298836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggtgcagaccccggacGgtgagcagcacctgccccag	7	4	14	16	4	0	2	0	1	0	1	1	3	0	3	5	3	4	3	5	3	0	0	rs558077330		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:231298836G>A	ENST00000366653.5	+	1	121	c.121G>A	c.(121-123)Ggt>Agt	p.G41S	TRIM67_ENST00000449018.3_Splice_Site_p.G41S|TRIM67_ENST00000444294.3_Missense_Mutation_p.G41S|TRIM67_ENST00000366652.2_Missense_Mutation_p.G41S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	41					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)				GACCCCGGACGGTGAGCAGCA	0.701													G|||	1	0.000199681	0	0	5008	,	,		11714	0		0	False		,,,				2504	0.001				p.G41S													TRIM67_ENST00000366653,colon,carcinoma,0,2	TRIM67_ENST00000366653	0	2	0			c.G121A												18	19	18					1																	231298836		2001	4169	6170	SO:0001583	missense	440730	exon1			CCGGACGGTGAGC	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.121G>A	1.37:g.231298836G>A	ENSP00000355613:p.Gly41Ser		36	0	0		46	0.07	3	NM_001004342	0		0	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	4.731	0.135868	0.09032	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.70045	-0.44;-0.36;-0.26;-0.45	4.82	1.68	0.24146	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.480670	0.20771	N	0.085991	T	0.47432	0.1445	L	0.39514	1.22	0.33787	D	0.624955	B	0.06786	0.001	B	0.11329	0.006	T	0.46331	-0.9199	10	0.02654	T	1	.	7.2477	0.26131	0.514:0.0:0.486:0.0	.	41	Q6ZTA4	TRI67_HUMAN	S	41	ENSP00000412124:G41S;ENSP00000355612:G41S;ENSP00000400163:G41S;ENSP00000355613:G41S	ENSP00000355612:G41S	G	+	1	0	TRIM67	229365459	0.609000	0.26975	0.968000	0.41197	0.882000	0.50991	0.216000	0.17585	0.477000	0.27464	0.313000	0.20887	GGT;GGT;GGC;GGT			0.701	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092649.3		NM_001004342		A	231298836	G	A	231298836	3	1	29	1	0	0	0	0	1	0	0	0	16564	1116	39	1	123	1	TRIM67	1	231298836	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	3857070	231298836	17951785	9	1966											
CHRM3	1131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	240071655	240071655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacagcaaagcatgaaaCgctccaacaggaggaagtat	17	6	9	9	1	1	1	1	1	0	0	2	3	2	3	1	2	5	4	1	2	6	2	rs200967479		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr1:240071655C>T	ENST00000255380.4	+	5	1683	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	302					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)	AAGCATGAAACGCTCCAACAG	0.547																																					p.R302C													CHRM3,colon,carcinoma,0,1	CHRM3	0	1	0			c.C904T												42	45	44					1																	240071655		2203	4300	6503	SO:0001583	missense	1131	exon5			ATGAAACGCTCCA	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.904C>T	1.37:g.240071655C>T	ENSP00000255380:p.Arg302Cys		136	0	0		134	0.2	27	NM_000740	17	0.12	2	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379309	0.24944	.	.	ENSG00000133019	ENST00000255380	T	0.60424	0.19	5.88	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.485395	0.21374	N	0.075600	T	0.47655	0.1457	N	0.12182	0.205	0.29576	N	0.849549	D	0.60575	0.988	P	0.51453	0.67	T	0.47045	-0.9147	10	0.41790	T	0.15	-4.1978	10.9653	0.47408	0.0:0.8578:0.0:0.1422	.	302	P20309	ACM3_HUMAN	C	302	ENSP00000255380:R302C	ENSP00000255380:R302C	R	+	1	0	CHRM3	238138278	0.341000	0.24801	0.017000	0.16124	0.906000	0.53458	2.580000	0.46068	1.489000	0.48450	0.591000	0.81541	CGC			0.547	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095644.2		NM_000740		T	240071655	C	T	240071655	3	4	29	1	0	0	0	0	1	0	0	0	3380	536	19	1	906	1	CHRM3	1	240071655	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	8772819	240071655	9178966	10	1967											
SLC20A1	6574	mdanderson.org	37	chr2	113414819	113414819	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagagaaaaattgaacGtaagtaataactaaacagca	22	7	8	4	1	0	3	0	2	0	1	0	5	0	3	0	0	4	3	0	0	9	5			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr2:113414819G>T	ENST00000272542.3	+	6	1317		c.e6+1		SLC20A1_ENST00000480984.1_Splice_Site	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1						ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AAAATTGAACGTAAGTAATAA	0.373																																					.													.	.			0			c.778+1G>T												110	110	110					2																	113414819		2203	4300	6503	SO:0001630	splice_region_variant	6574	exon6			TTGAACGTAAGTA		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.778+1G>T	2.37:g.113414819G>T			80	0	0		79	0.05	4	NM_005415	5	0	0	Q08344|Q6DHX8|Q9UQ82	Splice_Site	SNP	ENST00000272542.3	37	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626369	0.87560	.	.	ENSG00000144136	ENST00000272542;ENST00000433924;ENST00000409095	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.496	0.87717	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC20A1	113131290	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.631000	0.98424	2.738000	0.93877	0.655000	0.94253	.			0.373	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254086.2		NM_005415	Intron	T	113414819	G	T	113414819	5	4	29	1	0	0	0	0	0	0	1	0	14461	1159	40	1	797	1	SLC20A1	2	113414819	Splice_Site	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		113414819	129784554	11	1968											
POTEF	728378	broad.mit.edu	37	chr2	130877755	130877755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccttgctcttgctgcTccccctgcagcaggggaagc	5	8	11	17	0	1	0	0	0	1	0	2	1	2	1	4	2	6	5	4	2	1	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr2:130877755T>C	ENST00000409914.2	-	3	733	c.334A>G	c.(334-336)Agc>Ggc	p.S112G	POTEF_ENST00000357462.5_Missense_Mutation_p.S112G|POTEF_ENST00000361163.4_Missense_Mutation_p.S112G|POTEF_ENST00000360967.5_Missense_Mutation_p.S112G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	112					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCTTGCTGCTCCCCCTGCAG	0.592																																					p.S112G													.	POTEF	140		0			c.A334G												41	66	58					2																	130877755		2181	4285	6466	SO:0001583	missense	728378	exon3			TGCTGCTCCCCCT	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.334A>G	2.37:g.130877755T>C	ENSP00000386786:p.Ser112Gly		167	0	0		179	0.03	5	NM_001099771	1	0	0	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.35	1.325392	0.24080	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77877	-1.13;-1.13;1.69;1.7	0.351	0.351	0.16042	.	.	.	.	.	T	0.71221	0.3314	L	0.50333	1.59	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.64892	-0.6300	8	0.87932	D	0	.	.	.	.	.	112	A5A3E0	POTEF_HUMAN	G	112	ENSP00000350052:S112G;ENSP00000386786:S112G;ENSP00000354232:S112G;ENSP00000355012:S112G	ENSP00000350052:S112G	S	-	1	0	POTEF	130594225	0.003000	0.15002	0.021000	0.16686	0.027000	0.11550	0.047000	0.14056	0.366000	0.24427	0.076000	0.15429	AGC			0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331889.2		NM_001099771		C	130877755	T	C	130877755	3	2	29	1	0	0	0	0	1	0	0	0	12282	1551	54	4	2953	4	POTEF	2	130877755	Missense_Mutation	SNP	T	TCGA-2G-AAGG-01A-11D-A42Y-10	17462936	130877755	112321618	12	1969											
C2orf54	79919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	241835040	241835040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagtgaaggtatcctcGgtggtccaccgctccaggcc	7	7	14	13	2	0	1	0	1	0	0	4	2	3	1	5	5	0	3	5	5	2	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr2:241835040G>A	ENST00000388934.4	-	1	533	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	125										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGGTATCCTCGGTGGTCCACC	0.617																																					p.T125T													.	.			0			c.C375T												37	42	40					2																	241835040		2105	4218	6323	SO:0001819	synonymous_variant	79919	exon1			ATCCTCGGTGGTC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.375C>T	2.37:g.241835040G>A			114	0	0		108	0.09	10	NM_001085437	15	0.4	6	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																					0.617	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000324353.1		NM_024861, NM_001085437		A	241835040	G	A	241835040	2	1	29	1	0	0	0	0	0	0	0	1	2177	1103	39	1		1	C2orf54	2	241835040	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	110957285	241835040	1364333	13	1970											
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	4687295	4687295	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggctgtttcatgctgaGcaggagaagtttctcacctg	8	12	13	8	0	2	3	2	2	1	1	3	4	2	3	1	2	2	5	1	2	1	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr3:4687295G>A	ENST00000443694.2	+	8	738	c.738G>A	c.(736-738)gaG>gaA	p.E246E	ITPR1_ENST00000302640.8_Silent_p.E246E|ITPR1_ENST00000456211.2_Silent_p.E246E|ITPR1_ENST00000423119.2_Silent_p.E246E|ITPR1_ENST00000544951.1_Silent_p.E246E|ITPR1_ENST00000354582.6_Silent_p.E246E|ITPR1_ENST00000357086.4_Silent_p.E246E			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	246	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	TTCATGCTGAGCAGGAGAAGT	0.488																																					p.E246E													.	.			0			c.G738A												43	43	43					3																	4687295		2051	4230	6281	SO:0001819	synonymous_variant	3708	exon10			TGCTGAGCAGGAG	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.738G>A	3.37:g.4687295G>A			98	0	0		101	0.24	24	NM_001099952	2	0	0	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																					0.488	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337982.3		NM_002222		A	4687295	G	A	4687295	2	1	29	1	0	0	0	0	0	0	0	1	7935	962	34	2		2	ITPR1	3	4687295	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		4687295	193335135	14	1971											
NISCH	11188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52492740	52492740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagataattgggaaaaaCtcaagaagcttggtggagaa	20	7	11	3	0	1	3	1	0	0	3	1	5	1	4	0	3	2	1	0	3	8	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr3:52492740C>G	ENST00000479054.1	+	4	312	c.240C>G	c.(238-240)aaC>aaG	p.N80K	NISCH_ENST00000345716.4_Missense_Mutation_p.N80K|NISCH_ENST00000488380.1_Missense_Mutation_p.N80K|NISCH_ENST00000420808.2_Missense_Mutation_p.N80K			Q9Y2I1	NISCH_HUMAN	nischarin	80	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)	TTGGGAAAAACTCAAGAAGCT	0.478																																					p.N80K													.	.			0			c.C240G												68	71	70					3																	52492740		2203	4300	6503	SO:0001583	missense	11188	exon3			GAAAAACTCAAGA	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.240C>G	3.37:g.52492740C>G	ENSP00000418232:p.Asn80Lys		97	0	0		110	0.21	23	NM_001276293	45	0.47	21	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399531	0.25291	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000488380;ENST00000420808	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.7	3.68	0.42216	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	L	0.37507	1.11	0.47584	D	0.999463	D;D	0.89917	1.0;0.994	D;P	0.91635	0.999;0.893	T	0.34850	-0.9812	10	0.10902	T	0.67	-37.735	6.3889	0.21576	0.0:0.6782:0.0:0.3218	.	80;80	Q9Y2I1;C9J715	NISCH_HUMAN;.	K	80	ENSP00000418232:N80K;ENSP00000339958:N80K;ENSP00000417812:N80K;ENSP00000392484:N80K	ENSP00000339958:N80K	N	+	3	2	NISCH	52467780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.589000	0.36644	1.433000	0.47394	0.655000	0.94253	AAC			0.478	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351357.1		NM_007184		G	52492740	C	G	52492740	3	3	29	1	0	0	0	0	1	0	0	0	10449	564	20	5	250	5	NISCH	3	52492740	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	47805445	52492740	145529690	15	1972											
PDZRN3	23024	mdanderson.org	37	chr3	73433414	73433414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagatctccagggtgagcGgggtgctgcggcagctctcg	5	7	19	10	3	2	2	0	1	2	1	4	3	2	2	1	5	4	3	1	5	0	0	rs376105538		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr3:73433414G>T	ENST00000263666.4	-	10	2417	c.2303C>A	c.(2302-2304)cCg>cAg	p.P768Q	PDZRN3_ENST00000466780.1_Missense_Mutation_p.P425Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P485Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P425Q|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P490Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	768					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)		CAGGGTGAGCGGGGTGCTGCG	0.647																																					p.P768Q													.	.			0			c.C2303A												31	33	32					3																	73433414		2203	4300	6503	SO:0001583	missense	23024	exon10			GTGAGCGGGGTGC	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.2303C>A	3.37:g.73433414G>T	ENSP00000263666:p.Pro768Gln		40	0	0		38	0.11	4	NM_015009	34	0	0	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046270	0.75846	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.22134	1.97;2.87;2.8;2.8;2.88;2.74	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;P;D	0.97110	0.991;1.0;0.901;0.999	T	0.55127	-0.8189	10	0.56958	D	0.05	.	18.1478	0.89663	0.0:0.0:1.0:0.0	.	490;485;485;768	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	Q	768;490;425;425;485;466	ENSP00000263666:P768Q;ENSP00000442026:P490Q;ENSP00000418168:P425Q;ENSP00000418484:P425Q;ENSP00000418624:P485Q;ENSP00000419250:P466Q	ENSP00000263666:P768Q	P	-	2	0	PDZRN3	73516104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.392000	0.97252	2.370000	0.80446	0.655000	0.94253	CCG			0.647	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352460.1		XM_041363		T	73433414	G	T	73433414	3	4	29	1	0	0	0	0	1	0	0	0	11726	1116	39	1	901	1	PDZRN3	3	73433414	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	20940674	73433414	124589016	16	1973											
NPHP3	27031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	132408024	132408024	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttttctcatactgcttcAatgaatcgaagtattctgtt	10	18	6	7	1	3	1	2	1	2	0	5	2	3	1	0	0	2	4	0	0	5	7			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr3:132408024A>C	ENST00000337331.5	-	20	2863	c.2777T>G	c.(2776-2778)tTg>tGg	p.L926W	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	926					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATACTGCTTCAATGAATCGAA	0.428																																					p.L926W													.	.			0			c.T2777G												132	123	126					3																	132408024		2203	4300	6503	SO:0001583	missense	27031	exon20			TGCTTCAATGAAT	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2777T>G	3.37:g.132408024A>C	ENSP00000338766:p.Leu926Trp		134	0	0		113	0.22	25	NM_153240	22	0.32	7	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831206	0.91036	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.92858	-3.12	5.95	5.95	0.96441	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.93571	0.6904	10	0.45353	T	0.12	-12.7557	16.4237	0.83790	1.0:0.0:0.0:0.0	.	926	Q7Z494	NPHP3_HUMAN	W	206;926	ENSP00000338766:L926W	ENSP00000338766:L926W	L	-	2	0	NPHP3	133890714	1.000000	0.71417	0.934000	0.37439	0.977000	0.68977	8.730000	0.91510	2.279000	0.76181	0.533000	0.62120	TTG			0.428	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357020.2		NM_153240		C	132408024	A	C	132408024	3	2	29	1	0	0	0	0	1	0	0	0	10597	131	5	4	1247	4	NPHP3	3	132408024	Missense_Mutation	SNP	A	TCGA-2G-AAGG-01A-11D-A42Y-10	58974610	132408024	65614406	17	1974											
TFRC	7037	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	195789794	195789794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaaagataatgcttctGctgggctgaaacccatctga	11	10	10	10	0	2	3	0	2	2	1	2	3	2	3	1	2	3	4	1	2	3	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr3:195789794G>T	ENST00000360110.4	-	12	1504	c.1335C>A	c.(1333-1335)agC>agA	p.S445R	TFRC_ENST00000420415.1_Missense_Mutation_p.S364R|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.S163R|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.S445R	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	445					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|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 plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TAATGCTTCTGCTGGGCTGAA	0.438			T	BCL6	NHL																																p.S445R				Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	.	TFRC	54		0			c.C1335A												75	74	75					3																	195789794		2203	4300	6503	SO:0001583	missense	7037	exon12			GCTTCTGCTGGGC	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1335C>A	3.37:g.195789794G>T	ENSP00000353224:p.Ser445Arg		73	0	0		65	0.08	5	NM_001128148	34	0	0	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	3.228	-0.158108	0.06544	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.70516	1.23;1.23;1.23;-0.49	5.52	-5.36	0.02689	Peptidase M28 (1);	0.290090	0.49305	N	0.000154	T	0.22781	0.0550	N	0.00750	-1.22	0.80722	D	1	B	0.13145	0.007	B	0.16722	0.016	T	0.41161	-0.9524	10	0.02654	T	1	-0.239	1.362	0.02194	0.2024:0.3361:0.1462:0.3154	.	445	P02786	TFR1_HUMAN	R	445;364;445;163	ENSP00000353224:S445R;ENSP00000390133:S364R;ENSP00000376197:S445R;ENSP00000437753:S163R	ENSP00000353224:S445R	S	-	3	2	TFRC	197274191	0.995000	0.38212	0.820000	0.32676	0.844000	0.47949	0.348000	0.20031	-0.710000	0.05001	0.591000	0.81541	AGC			0.438	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341346.1				T	195789794	G	T	195789794	3	4	29	1	0	0	0	0	1	0	0	0	15835	1310	46	2	979	2	TFRC	3	195789794	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	63381770	195789794	2232636	18	1975											
SHROOM3	57619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	77631363	77631363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgcctctaacttcgtcagCccagaacacctcacctctgg	8	9	8	16	1	4	1	2	0	2	1	5	1	4	1	4	2	4	0	4	2	2	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr4:77631363C>A	ENST00000296043.6	+	3	1331	c.378C>A	c.(376-378)agC>agA	p.S126R	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	126					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)			ACTTCGTCAGCCCAGAACACC	0.537																																					p.S126R													.	.			0			c.C378A												107	96	100					4																	77631363		2203	4300	6503	SO:0001583	missense	57619	exon3			CGTCAGCCCAGAA	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.378C>A	4.37:g.77631363C>A	ENSP00000296043:p.Ser126Arg		245	0	0		199	0.35	69	NM_020859	10	0.4	4	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800264	0.31869	.	.	ENSG00000138771	ENST00000296043	T	0.21734	1.99	4.7	2.97	0.34412	.	0.192102	0.25823	N	0.028061	T	0.14184	0.0343	L	0.40543	1.245	0.09310	N	0.999996	P	0.44578	0.838	B	0.36289	0.221	T	0.12604	-1.0541	10	0.52906	T	0.07	-0.4047	7.6736	0.28473	0.0:0.7999:0.0:0.2001	.	126	Q8TF72	SHRM3_HUMAN	R	126	ENSP00000296043:S126R	ENSP00000296043:S126R	S	+	3	2	SHROOM3	77850387	0.099000	0.21834	0.037000	0.18230	0.019000	0.09904	0.776000	0.26704	0.684000	0.31448	0.591000	0.81541	AGC			0.537	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252408.2		NM_020859		A	77631363	C	A	77631363	3	1	29	1	0	0	0	0	1	0	0	0	14318	738	26	2	388	2	SHROOM3	4	77631363	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10		77631363	113522913	19	1976											
ARHGAP10	79658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	148993187	148993187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctagaagggactctgaaCggcaagagggggctgattcc	10	7	16	8	1	1	4	0	2	1	2	2	5	2	5	1	5	1	3	1	5	4	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr4:148993187C>G	ENST00000336498.3	+	23	2555	c.2316C>G	c.(2314-2316)aaC>aaG	p.N772K	ARHGAP10_ENST00000510076.1_3'UTR|ARHGAP10_ENST00000414545.2_Missense_Mutation_p.N370K	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GGACTCTGAACGGCAAGAGGG	0.562																																					p.N772K													.	.			0			c.C2316G												88	89	89					4																	148993187		2203	4300	6503	SO:0001583	missense	79658	exon23			TCTGAACGGCAAG	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.2316C>G	4.37:g.148993187C>G	ENSP00000336923:p.Asn772Lys		53	0	0		59	0.2	12	NM_024605	22	0	0	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.37|14.37	2.514711|2.514711	0.44763|0.44763	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000336498;ENST00000414545|ENST00000507661	T;T|.	0.44482|.	0.92;0.92|.	4.93|4.93	-7.12|-7.12	0.01537|0.01537	Src homology-3 domain (4);|.	0.181638|.	0.52532|.	D|.	0.000070|.	T|T	0.52917|0.52917	0.1764|0.1764	L|L	0.55481|0.55481	1.735|1.735	0.32175|0.32175	N|N	0.581127|0.581127	D;D;D;D|.	0.89917|.	1.0;0.994;0.999;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.98;0.99;0.999|.	T|T	0.59279|0.59279	-0.7484|-0.7484	10|5	0.87932|.	D|.	0|.	.|.	15.92|15.92	0.79556|0.79556	0.0:0.3063:0.0:0.6937|0.0:0.3063:0.0:0.6937	.|.	205;353;370;772|.	Q9H7G7;Q86T21;E7EUW5;A1A4S6|.	.;.;.;RHG10_HUMAN|.	K|G	772;370|399	ENSP00000336923:N772K;ENSP00000406624:N370K|.	ENSP00000336923:N772K|.	N|R	+|+	3|1	2|2	ARHGAP10|ARHGAP10	149212637|149212637	0.016000|0.016000	0.18221|0.18221	0.747000|0.747000	0.31113|0.31113	0.789000|0.789000	0.44602|0.44602	-1.119000|-1.119000	0.03276|0.03276	-1.623000|-1.623000	0.01558|0.01558	-3.230000|-3.230000	0.00052|0.00052	AAC|CGG			0.562	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365005.1		NM_024605		G	148993187	C	G	148993187	3	3	29	1	0	0	0	0	1	0	0	0	862	535	19	5	2406	5	ARHGAP10	4	148993187	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	71361824	148993187	42161089	20	1977											
SLC12A7	10723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	1093664	1093664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttggcctcccgccgcCggctctcctcgtcctcctcg	1	10	9	21	5	1	0	0	0	1	0	7	0	4	0	8	2	1	2	8	2	1	2	rs567086957		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr5:1093664C>A	ENST00000264930.5	-	3	369	c.326G>T	c.(325-327)cGg>cTg	p.R109L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	109					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTCCCGCCGCCGGCTCTCCTC	0.667																																					p.R109L													.	.			0			c.G326T												76	53	61					5																	1093664		2190	4291	6481	SO:0001583	missense	10723	exon3			CGCCGCCGGCTCT	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.326G>T	5.37:g.1093664C>A	ENSP00000264930:p.Arg109Leu		36	0	0		50	0.32	16	NM_006598	26	0.46	12	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	7.283	0.609489	0.14066	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.84873	-1.91	3.86	-1.09	0.09904	.	0.176114	0.47455	D	0.000239	T	0.74921	0.3780	L	0.43152	1.355	0.30154	N	0.802817	B	0.24651	0.108	B	0.20767	0.031	T	0.64976	-0.6280	10	0.40728	T	0.16	.	8.0142	0.30372	0.0:0.2602:0.0:0.7398	.	109	Q9Y666	S12A7_HUMAN	L	109	ENSP00000264930:R109L	ENSP00000264930:R109L	R	-	2	0	SLC12A7	1146664	0.013000	0.17824	0.162000	0.22713	0.229000	0.25112	0.443000	0.21644	-0.069000	0.12931	0.455000	0.32223	CGG			0.667	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366446.2		NM_006598		A	1093664	C	A	1093664	3	1	29	1	0	0	0	0	1	0	0	0	14411	652	23	1	3013	1	SLC12A7	5	1093664	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10		1093664	179821596	21	1978											
ADCY2	108	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	7707008	7707008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accacatggaagctggagggGtccctgggtaaggccaagca	11	5	15	10	0	0	0	0	0	0	0	1	2	1	2	3	6	2	3	3	6	3	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr5:7707008G>T	ENST00000338316.4	+	8	1350	c.1261G>T	c.(1261-1263)Gtc>Ttc	p.V421F	ADCY2_ENST00000537121.1_Missense_Mutation_p.V241F|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	421					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						AGCTGGAGGGGTCCCTGGGTA	0.478																																					p.V421F													ADCY2,NS,carcinoma,-2,1	ADCY2	337	1	0			c.G1261T												145	132	136					5																	7707008		2203	4300	6503	SO:0001583	missense	108	exon8			GGAGGGGTCCCTG	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.1261G>T	5.37:g.7707008G>T	ENSP00000342952:p.Val421Phe		52	0	0		64	0.08	5	NM_020546	1	1	1	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210960	0.79240	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.81908	-1.55;-1.55	5.29	4.42	0.53409	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.061993	0.64402	D	0.000004	D	0.90191	0.6934	M	0.75150	2.29	0.42704	D	0.99362	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.983	D	0.91275	0.5047	10	0.72032	D	0.01	.	14.0088	0.64483	0.0727:0.0:0.9273:0.0	.	241;421	B7Z2C1;Q08462	.;ADCY2_HUMAN	F	421;272;241	ENSP00000342952:V421F;ENSP00000444803:V241F	ENSP00000342952:V421F	V	+	1	0	ADCY2	7760008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.444000	0.66587	1.239000	0.43787	0.655000	0.94253	GTC			0.478	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206930.2		NM_020546		T	7707008	G	T	7707008	3	4	29	1	0	0	0	0	1	0	0	0	294	1261	44	3	1291	3	ADCY2	5	7707008	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	6613344	7707008	173208252	22	1979											
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	23527778	23527778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggggagaagccctacGtctgcagggagtgtgggcgg	9	5	18	9	2	1	1	0	0	1	1	1	3	1	2	1	5	3	1	1	5	2	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr5:23527778G>A	ENST00000296682.3	+	11	2763	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	861					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						GAAGCCCTACGTCTGCAGGGA	0.592										HNSCC(3;0.000094)																											p.V861I													.	.			0			c.G2581A												72	80	77					5																	23527778		2188	4299	6487	SO:0001583	missense	56979	exon11			CCCTACGTCTGCA	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.2581G>A	5.37:g.23527778G>A	ENSP00000296682:p.Val861Ile		209	0	0		191	0.2	39	NM_020227	0		0	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	3.787	-0.044546	0.07452	.	.	ENSG00000164256	ENST00000296682	T	0.18810	2.19	2.67	0.738	0.18319	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17874	0.0429	N	0.25201	0.72	0.09310	N	1	D	0.61080	0.989	P	0.52793	0.709	T	0.11494	-1.0585	9	0.41790	T	0.15	-0.2631	3.6387	0.08158	0.132:0.0:0.4389:0.4291	.	861	Q9NQV7	PRDM9_HUMAN	I	861	ENSP00000296682:V861I	ENSP00000296682:V861I	V	+	1	0	PRDM9	23563535	0.000000	0.05858	0.645000	0.29479	0.274000	0.26718	-5.107000	0.00151	0.196000	0.20367	0.472000	0.43445	GTC			0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366375.1		NM_020227		A	23527778	G	A	23527778	3	1	29	1	0	0	0	0	1	0	0	0	12483	1145	40	1	2619	1	PRDM9	5	23527778	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	15820770	23527778	157387482	23	1980											
EGFLAM	133584	hgsc.bcm.edu;broad.mit.edu	37	chr5	38448404	38448404	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgttctgtcccagcGatcatagaagccattgagat	9	15	8	9	1	3	2	1	1	2	2	4	4	4	2	2	0	2	1	2	0	2	5			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr5:38448404G>T	ENST00000354891.3	+	19	2836	c.2490G>T	c.(2488-2490)acG>acT	p.T830T	EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397202.2_Splice_Site_p.A188A|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000322350.5_Splice_Site_p.A822A|EGFLAM_ENST00000336740.6_Splice_Site_p.A588A|EGFLAM_ENST00000397210.3_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	830					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)					CTGTCCCAGCGATCATAGAAG	0.478																																					p.T830T	Colon(62;485 1295 3347 17454)												.	.			0			c.G2490T												177	178	178					5																	38448404		2203	4300	6503	SO:0001630	splice_region_variant	133584	exon19			CCCAGCGATCATA	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.2489-1G>T	5.37:g.38448404G>T			69	0	0		70	0.06	4	NM_001205301	24	0	0	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	CCDS56363.1																																																																																					0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000367323.1		NM_152403	Silent	T	38448404	G	T	38448404	5	4	29	1	0	0	0	0	0	0	1	0	4971	1072	37	1	2550	1	EGFLAM	5	38448404	Splice_Site	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	14920626	38448404	142466856	24	1981											
MSH5	4439	mdanderson.org	37	chr6	31726391	31726391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatagatcctgaaattGatgagagtgagtgttgggtg	12	11	13	5	0	0	5	0	4	0	2	1	6	1	5	2	1	1	1	2	1	3	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr6:31726391G>T	ENST00000375755.3	+	14	1496	c.1210G>T	c.(1210-1212)Gat>Tat	p.D404Y	MSH5_ENST00000395853.1_Missense_Mutation_p.D78Y|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.D421Y|MSH5_ENST00000375703.3_Missense_Mutation_p.D404Y|MSH5_ENST00000375742.3_Missense_Mutation_p.D421Y|MSH5_ENST00000375740.3_Missense_Mutation_p.D421Y|RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000375750.3_Missense_Mutation_p.D404Y|MSH5_ENST00000534153.4_Missense_Mutation_p.D421Y|MSH5_ENST00000431848.2_Missense_Mutation_p.D103Y	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	404					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TCCTGAAATTGATGAGAGTGA	0.527								Direct reversal of damage;Mismatch excision repair (MMR)																													p.D421Y													.	.			0			c.G1261T												90	75	80					6																	31726391		1511	2709	4220	SO:0001583	missense	4439	exon14			GAAATTGATGAGA	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1210G>T	6.37:g.31726391G>T	ENSP00000364908:p.Asp404Tyr		87	0	0		81	0.05	4	NM_025259	77	0	0	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100578	0.94245	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.82	5.82	0.92795	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	M	0.85630	2.765	0.49051	D	0.999746	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	0.96364	0.9268	9	0.87932	D	0	-26.3795	17.5868	0.87983	0.0:0.0:1.0:0.0	.	89;421;404;404;421	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	Y	404;421;404;421;404;421;246;103;78	ENSP00000364908:D404Y;ENSP00000364894:D421Y;ENSP00000364903:D404Y;ENSP00000431693:D421Y;ENSP00000364855:D404Y;ENSP00000364892:D421Y;ENSP00000394971:D246Y;ENSP00000416784:D103Y;ENSP00000379194:D78Y	ENSP00000364855:D404Y	D	+	1	0	MSH5	31834370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.354000	0.90080	2.756000	0.94617	0.561000	0.74099	GAT			0.527	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000076243.4				T	31726391	G	T	31726391	3	4	29	1	0	0	0	0	1	0	0	0	9889	1290	45	3	1311	3	MSH5	6	31726391	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		31726391	139388676	25	1982											
IPCEF1	26034	mdanderson.org	37	chr6	154544307	154544307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgagagacaacttactgcTttttcttgcattcagatgct	10	15	8	8	0	2	3	1	1	1	2	2	5	2	3	0	0	5	3	0	0	2	5			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr6:154544307T>C	ENST00000265198.4	-	6	469	c.314A>G	c.(313-315)aAg>aGg	p.K105R	IPCEF1_ENST00000422970.2_Missense_Mutation_p.K106R|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Missense_Mutation_p.K106R|IPCEF1_ENST00000519344.1_Missense_Mutation_p.K77R	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	105	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AACTTACTGCTTTTTCTTGCA	0.393																																					p.K106R													.	.			0			c.A317G												135	121	126					6																	154544307		2203	4300	6503	SO:0001583	missense	26034	exon7			TACTGCTTTTTCT	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.314A>G	6.37:g.154544307T>C	ENSP00000265198:p.Lys105Arg		51	0	0		43	0.07	3	NM_001130699	0		0	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552232	0.86127	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344;ENST00000517438;ENST00000519405;ENST00000519190	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66	5.82	5.82	0.92795	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	M	0.65677	2.01	0.36066	D	0.841762	P;D	0.89917	0.743;1.0	P;D	0.97110	0.838;1.0	T	0.03184	-1.1063	10	0.39692	T	0.17	.	13.7132	0.62680	0.0:0.0:0.0:1.0	.	105;106	Q8WWN9;Q8WWN9-2	ICEF1_HUMAN;.	R	105;106;106;77;77;77;77	ENSP00000265198:K105R;ENSP00000394751:K106R;ENSP00000356189:K106R;ENSP00000430287:K77R;ENSP00000431092:K77R;ENSP00000428767:K77R;ENSP00000429972:K77R	ENSP00000265198:K105R	K	-	2	0	IPCEF1	154585999	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.793000	0.69060	2.225000	0.72522	0.460000	0.39030	AAG			0.393	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000042789.2		NM_001130699		C	154544307	T	C	154544307	3	2	29	1	0	0	0	0	1	0	0	0	7806	1609	56	4	1027	4	IPCEF1	6	154544307	Missense_Mutation	SNP	T	TCGA-2G-AAGG-01A-11D-A42Y-10	122817916	154544307	16570760	26	1983											
LPA	4018	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	160999712	160999712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaatctcagcatctggattCctgcagtagttcctggtcag	8	12	10	11	1	3	0	2	0	2	0	6	2	5	1	2	2	2	4	2	2	2	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr6:160999712C>A	ENST00000316300.5	-	27	4358	c.4314G>T	c.(4312-4314)agG>agT	p.R1438S	LPA_ENST00000447678.1_Missense_Mutation_p.R1438S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3946	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CATCTGGATTCCTGCAGTAGT	0.502																																					p.R1438S													.	.			0			c.G4314T												86	87	86					6																	160999712		2082	4245	6327	SO:0001583	missense	4018	exon28			TGGATTCCTGCAG	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4314G>T	6.37:g.160999712C>A	ENSP00000321334:p.Arg1438Ser		93	0	0		97	0.19	18	NM_005577	0		0	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	13.09	2.134805	0.37728	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.93906	-3.31;-3.31	2.37	-2.14	0.07123	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.96898	0.8987	H	0.98682	4.3	0.40094	D	0.976286	D	0.89917	1.0	D	0.97110	1.0	D	0.94786	0.7958	9	0.87932	D	0	.	9.5873	0.39524	0.0:0.6809:0.0:0.3191	.	3946	P08519	APOA_HUMAN	S	1438	ENSP00000321334:R1438S;ENSP00000395608:R1438S	ENSP00000321334:R1438S	R	-	3	2	LPA	160919702	0.037000	0.19845	0.286000	0.24833	0.145000	0.21501	-1.295000	0.02764	-0.950000	0.03659	-1.197000	0.01672	AGG			0.502	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042957.1		NM_005577		A	160999712	C	A	160999712	3	1	29	1	0	0	0	0	1	0	0	0	8919	854	30	3	1860	3	LPA	6	160999712	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	6455405	160999712	10115355	27	1984											
TNS3	64759	mdanderson.org	37	chr7	47474985	47474985	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggtgcgtggagctctggCcagcccacatccatgatctg	6	8	14	13	2	2	1	0	1	2	0	3	2	3	2	3	4	3	1	3	4	0	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr7:47474985C>T	ENST00000398879.1	-	8	585	c.219G>A	c.(217-219)tgG>tgA	p.W73*	TNS3_ENST00000442536.2_Nonsense_Mutation_p.W73*|TNS3_ENST00000311160.9_Nonsense_Mutation_p.W73*|TNS3_ENST00000355730.3_Nonsense_Mutation_p.W73*|TNS3_ENST00000458317.2_Nonsense_Mutation_p.W73*			Q68CZ2	TENS3_HUMAN	tensin 3	73	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGAGCTCTGGCCAGCCCACAT	0.517																																					p.W73X													.	.			0			c.G219A												94	100	98					7																	47474985		2042	4198	6240	SO:0001587	stop_gained	64759	exon8			CTCTGGCCAGCCC	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.219G>A	7.37:g.47474985C>T	ENSP00000381854:p.Trp73*		35	0	0		34	0.09	3	NM_022748	19	0	0	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Nonsense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	38	7.211911	0.98139	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317;ENST00000415929;ENST00000413551	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.0366	16.4177	0.83748	0.0:1.0:0.0:0.0	.	.	.	.	X	73;183;73;73;176;162;73;73;73;73	.	ENSP00000312143:W73X	W	-	3	0	TNS3	47441510	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.608000	0.82898	2.534000	0.85438	0.650000	0.86243	TGG			0.517	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157253.1		NM_022748		T	47474985	C	T	47474985	4	4	29	1	0	0	0	0	0	1	0	0	16367	740	26	2	4214	2	TNS3	7	47474985	Nonsense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10		47474985	111663678	28	1985											
POM121L12	285877	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	53103898	53103898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcacccgggagactctGctgggggcgctcagccagtg	5	6	15	15	2	2	1	1	0	1	1	2	2	2	1	3	3	3	3	3	3	0	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr7:53103898G>T	ENST00000408890.4	+	1	550	c.534G>T	c.(532-534)ctG>ctT	p.L178L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	178										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGAGACTCTGCTGGGGGCGC	0.706																																					p.L178L													.	.			0			c.G534T												23	28	26					7																	53103898		1889	4098	5987	SO:0001819	synonymous_variant	285877	exon1			GACTCTGCTGGGG		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.534G>T	7.37:g.53103898G>T			35	0	0		34	0.26	9	NM_182595	0		0	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																					0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342656.1		NM_182595		T	53103898	G	T	53103898	2	4	29	1	0	0	0	0	0	0	0	1	12258	1306	46	2		2	POM121L12	7	53103898	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	5628913	53103898	106034765	29	1986											
MLL3	58508	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	151845608	151845608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatccactagtggcaccCgtcttgtgacagaagacaca	11	8	10	12	1	1	3	0	1	1	2	2	3	2	3	2	2	0	2	2	2	2	2	rs563166492		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr7:151845608C>T	ENST00000262189.6	-	52	13622	c.13404G>A	c.(13402-13404)acG>acA	p.T4468T	KMT2C_ENST00000355193.2_Silent_p.T4525T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4468					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.T4468T(2)|p.T4525T(2)									TAGTGGCACCCGTCTTGTGAC	0.458																																					p.T4468T													.	.			4	Substitution - coding silent(4)	lung(4)	c.G13404A												166	164	165					7																	151845608		2203	4300	6503	SO:0001819	synonymous_variant	58508	exon52			GGCACCCGTCTTG	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.13404G>A	7.37:g.151845608C>T			86	0	0		108	0.06	6	NM_170606	24	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	5.418	0.262368	0.10294	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.24	0.856	0.19019	.	.	.	.	.	T	0.66025	0.2748	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60459	-0.7259	4	.	.	.	.	13.355	0.60623	0.0:0.7991:0.1134:0.0875	.	.	.	.	R	2029	.	.	G	-	1	0	MLL3	151476541	0.987000	0.35691	0.272000	0.24630	0.935000	0.57460	0.231000	0.17872	-0.294000	0.08973	-1.253000	0.01494	GGG			0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3				T	151845608	C	T	151845608	2	4	29	1	0	0	0	0	0	0	0	1	9638	639	23	1		1	MLL3	7	151845608	Silent	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	98741710	151845608	7293055	30	1987											
MFHAS1	9258	mdanderson.org	37	chr8	8748682	8748682	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtaagtggcgcgggtccctGcagctaacaggcaacacggg	9	5	15	12	4	0	0	0	0	0	0	1	0	1	0	1	4	4	4	1	4	3	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr8:8748682G>T	ENST00000276282.6	-	1	2473	c.1887C>A	c.(1885-1887)tgC>tgA	p.C629*		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	629	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCGGGTCCCTGCAGCTAACAG	0.572																																					p.C629X	Melanoma(103;1201 2045 17515 28966)												.	.			0			c.C1887A												74	63	66					8																	8748682		2203	4300	6503	SO:0001587	stop_gained	9258	exon1			GTCCCTGCAGCTA	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1887C>A	8.37:g.8748682G>T	ENSP00000276282:p.Cys629*		28	0	0		25	0.12	3	NM_004225	15	0	0	Q96CI0	Nonsense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	44	10.924570	0.99489	.	.	ENSG00000147324	ENST00000276282	.	.	.	5.28	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	8.025	0.30431	0.2416:0.0:0.7584:0.0	.	.	.	.	X	629	.	ENSP00000276282:C629X	C	-	3	2	MFHAS1	8786092	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	3.857000	0.55972	0.802000	0.34089	0.655000	0.94253	TGC			0.572	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374724.2		NM_004225		T	8748682	G	T	8748682	4	4	29	1	0	0	0	0	0	1	0	0	9537	1311	46	2	1283	2	MFHAS1	8	8748682	Nonsense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		8748682	137615340	31	1988											
RP1L1	94137	hgsc.bcm.edu	37	chr8	10465934	10465934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccattctgcctctggggTctctacatcttctgactctg	4	15	7	15	0	6	1	0	1	6	0	8	1	7	1	2	2	2	0	2	2	1	3	rs202056828		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr8:10465934T>C	ENST00000382483.3	-	4	5897	c.5674A>G	c.(5674-5676)Acc>Gcc	p.T1892A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1972					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTGGGGTCTCTACATCT	0.607																																					p.T1892A													RP1L1,NS,carcinoma,+1,1	RP1L1	1	1	0			c.A5674G																																									SO:0001583	missense	94137	exon4			CTGGGGTCTCTAC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5674A>G	8.37:g.10465934T>C	ENSP00000371923:p.Thr1892Ala		64	0.03125	2		56	0.18	10	NM_178857	0		0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.056342	0.00390	.	.	ENSG00000183638	ENST00000382483	T	0.07114	3.22	1.4	-2.8	0.05823	.	.	.	.	.	T	0.01976	0.0062	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33085	-0.9882	9	0.07644	T	0.81	.	0.9492	0.01372	0.1582:0.2711:0.3144:0.2564	.	1892	A6NKC6	.	A	1892	ENSP00000371923:T1892A	ENSP00000371923:T1892A	T	-	1	0	RP1L1	10503344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.473000	0.00988	-2.494000	0.00514	-3.032000	0.00072	ACC			0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375673.1				C	10465934	T	C	10465934	3	2	29	1	0	0	0	0	1	0	0	0	13556	1667	58	4	1532	4	RP1L1	8	10465934	Missense_Mutation	SNP	T	TCGA-2G-AAGG-01A-11D-A42Y-10	1717252	10465934	135898088	32	1989											
RP1L1	94137	bcgsc.ca	37	chr8	10466034	10466034	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcagcctcctgggcatcCccttctgcctctggggcctc	2	11	9	19	0	3	0	1	0	2	0	6	0	5	0	7	3	2	1	7	3	0	2	rs547703957	byFrequency	TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr8:10466034C>T	ENST00000382483.3	-	4	5797	c.5574G>A	c.(5572-5574)ggG>ggA	p.G1858G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1938					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGGGCATCCCCTTCTGCCT	0.622													C|||	18	0.00359425	0	0	5008	,	,		15574	0.001		0	False		,,,				2504	0.0174				p.G1858G													.	RP1L1	453		0			c.G5574A												161	173	169					8																	10466034		1912	4122	6034	SO:0001819	synonymous_variant	94137	exon4			GGCATCCCCTTCT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5574G>A	8.37:g.10466034C>T			79	0	0		27	0.19	5	NM_178857	0		0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																					0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375673.1				T	10466034	C	T	10466034	2	4	29	1	0	0	0	0	0	0	0	1	13556	610	22	3		3	RP1L1	8	10466034	Silent	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	100	10466034	135897988	33	1990											
ADAM28	10863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	24151704	24151704	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtctcctcctctctgtTgcaggtacatatttagctct	6	16	7	12	0	4	0	1	0	3	0	7	0	5	0	2	1	3	4	2	1	3	5	rs547338346		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr8:24151704T>G	ENST00000265769.4	+	1	152	c.42T>G	c.(40-42)gtT>gtG	p.V14V	ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Silent_p.V14V|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	14					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCCTCTCTGTTGCAGGTACAT	0.438													T|||	1	0.000199681	0	0	5008	,	,		18806	0		0	False		,,,				2504	0.001				p.V14V	NSCLC(193;488 2149 22258 34798 40734)												.	.			0			c.T42G												225	204	211					8																	24151704		2203	4300	6503	SO:0001819	synonymous_variant	10863	exon1			CTCTGTTGCAGGT	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.42T>G	8.37:g.24151704T>G			87	0	0		82	0.18	15	NM_014265	0		0	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1																																																																																					0.438	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375441.2		NM_021778		G	24151704	T	G	24151704	2	3	29	1	0	0	0	0	0	0	0	1	246	1799	63	4		4	ADAM28	8	24151704	Silent	SNP	T	TCGA-2G-AAGG-01A-11D-A42Y-10	13685670	24151704	122212318	34	1991											
PRKDC	5591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	48749779	48749779	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaccacattacctgaaaTtcgcattctgacagaggatg	14	9	9	9	1	1	4	0	2	1	2	2	6	1	5	2	1	1	1	2	1	3	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr8:48749779T>A	ENST00000314191.2	-	58	7808	c.7752A>T	c.(7750-7752)gaA>gaT	p.E2584D	PRKDC_ENST00000338368.3_Missense_Mutation_p.E2584D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2585	KIP-binding.				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)	TTACCTGAAATTCGCATTCTG	0.393								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)												.	.			0			.												68	66	67					8																	48749779		1862	4102	5964	SO:0001583	missense	5591	.			CTGAAATTCGCAT		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.7752A>T	8.37:g.48749779T>A	ENSP00000313420:p.Glu2584Asp		54	0	0		46	0.22	10	.	55	0.15	8	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	10.57	1.386209	0.25031	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02656	4.28;4.21	5.79	2.13	0.27403	.	0.768051	0.12631	N	0.452181	T	0.03348	0.0097	L	0.44542	1.39	0.24966	N	0.991698	B;B	0.26002	0.139;0.013	B;B	0.27076	0.076;0.02	T	0.44574	-0.9319	10	0.27082	T	0.32	.	8.515	0.33239	0.0:0.2283:0.0:0.7717	.	2584;2585	E7EUY0;P78527	.;PRKDC_HUMAN	D	2584	ENSP00000313420:E2584D;ENSP00000345182:E2584D	ENSP00000313420:E2584D	E	-	3	2	PRKDC	48912332	1.000000	0.71417	0.289000	0.24876	0.515000	0.34225	0.924000	0.28777	0.129000	0.18514	0.482000	0.46254	GAA			0.393	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001081640		A	48749779	T	A	48749779	3	1	29	1	0	0	0	0	1	0	0	0	12541	1490	52	5	4751	5	PRKDC	8	48749779	Missense_Mutation	SNP	T	TCGA-2G-AAGG-01A-11D-A42Y-10	24598075	48749779	97614243	35	1992											
ZC3H3	23144	broad.mit.edu	37	chr8	144522222	144522222	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcctacctgagtccttgGtgaggggggccctaggggcc	4	8	17	12	0	0	2	0	2	0	0	1	2	1	2	5	6	2	1	5	6	2	3	rs112624965		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr8:144522222G>C	ENST00000262577.5	-	11	2835	c.2804C>G	c.(2803-2805)aCc>aGc	p.T935S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	935					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)			TGAGTCCTTGGTGAGGGGGGC	0.706																																					p.T935S													.	ZC3H3	75		0			c.C2804G												6	7	7					8																	144522222		2141	4211	6352	SO:0001583	missense	23144	exon11			TCCTTGGTGAGGG	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.2804C>G	8.37:g.144522222G>C	ENSP00000262577:p.Thr935Ser		36	0	0		44	0.11	5	NM_015117	83	0	0	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	3.759	-0.049963	0.07407	.	.	ENSG00000014164	ENST00000262577	T	0.03035	4.07	4.32	-0.682	0.11339	.	1.961550	0.02619	N	0.102980	T	0.02610	0.0079	N	0.24115	0.695	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.40098	-0.9581	10	0.07325	T	0.83	-0.8938	3.9574	0.09396	0.282:0.3704:0.3476:0.0	.	935	Q8IXZ2	ZC3H3_HUMAN	S	935	ENSP00000262577:T935S	ENSP00000262577:T935S	T	-	2	0	ZC3H3	144593365	0.000000	0.05858	0.049000	0.19019	0.295000	0.27426	-1.355000	0.02612	-0.130000	0.11599	0.453000	0.30009	ACC			0.706	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382011.2		NM_015117		C	144522222	G	C	144522222	3	2	29	1	0	0	0	0	1	0	0	0	17592	1261	44	5	50	5	ZC3H3	8	144522222	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	95772443	144522222	1841800	36	1993											
SLC24A2	25769	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	19597247	19597247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttcagtcattgtgtcaTaatattttagttttccatat	9	21	4	7	0	4	0	3	0	1	0	5	0	5	0	1	0	0	1	1	0	4	10			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr9:19597247T>C	ENST00000341998.2	-	4	1170	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C	SLC24A2_ENST00000286344.3_Intron	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	370					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CATTGTGTCATAATATTTTAG	0.303																																					p.Y370C													.	SLC24A2	93		0			c.A1109G												213	196	202					9																	19597247		2199	4300	6499	SO:0001583	missense	25769	exon4			GTGTCATAATATT	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1109A>G	9.37:g.19597247T>C	ENSP00000344801:p.Tyr370Cys		151	0.0066225166	1		134	0.28	38	NM_020344	0		0	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489553	0.44249	.	.	ENSG00000155886	ENST00000341998	T	0.75050	-0.9	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	L	0.57536	1.79	0.80722	D	1	B	0.24186	0.099	B	0.22601	0.04	T	0.66582	-0.5887	9	.	.	.	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	370	Q9UI40	NCKX2_HUMAN	C	370	ENSP00000344801:Y370C	.	Y	-	2	0	SLC24A2	19587247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.474000	0.81024	2.320000	0.78422	0.528000	0.53228	TAT			0.303	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051866.2		NM_020344		C	19597247	T	C	19597247	3	2	29	1	0	0	0	0	1	0	0	0	14489	1406	49	4	904	4	SLC24A2	9	19597247	Missense_Mutation	SNP	T	TCGA-2G-AAGG-01A-11D-A42Y-10		19597247	121616184	37	1994											
UNC13B	10497	ucsc.edu;bcgsc.ca	37	chr9	35397638	35397638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcttctcagaccatcGggaaggtgctgatgcagtat	8	12	10	11	1	3	2	1	1	3	1	6	3	3	3	2	2	2	3	2	2	2	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr9:35397638G>T	ENST00000378495.3	+	29	3658	c.3436G>T	c.(3436-3438)Ggg>Tgg	p.G1146W	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Missense_Mutation_p.G1158W|UNC13B_ENST00000378496.4_Missense_Mutation_p.G1146W	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1146	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)			tcAGACCATCGGGAAGGTGCT	0.478																																					p.G1146W													.	UNC13B	153		0			c.G3436T												57	49	51					9																	35397638		2203	4300	6503	SO:0001583	missense	10497	exon29			ACCATCGGGAAGG	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.3436G>T	9.37:g.35397638G>T	ENSP00000367756:p.Gly1146Trp		33	0	0		32	0.13	4	NM_006377	32	0	0	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472727	0.63737	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.14144	2.53;2.53;2.53	5.33	5.33	0.75918	Munc13 homology 1 (1);	0.304376	0.38663	N	0.001611	T	0.24661	0.0598	L	0.36672	1.1	0.44816	D	0.997821	D;D	0.76494	0.999;0.999	D;D	0.66602	0.94;0.945	T	0.00489	-1.1709	10	0.62326	D	0.03	-21.9044	11.4835	0.50339	0.0819:0.0:0.9181:0.0	.	1146;1146	F8W8M9;O14795	.;UN13B_HUMAN	W	1158;1146;1146;733	ENSP00000380006:G1158W;ENSP00000367756:G1146W;ENSP00000367757:G1146W	ENSP00000367756:G1146W	G	+	1	0	UNC13B	35387638	0.704000	0.27836	0.989000	0.46669	0.840000	0.47671	0.960000	0.29253	2.479000	0.83701	0.563000	0.77884	GGG			0.478	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000052296.1		NM_006377		T	35397638	G	T	35397638	3	4	29	1	0	0	0	0	1	0	0	0	17009	1116	39	1	3550	1	UNC13B	9	35397638	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	15800391	35397638	105815793	38	1995											
DAB2IP	153090	mdanderson.org	37	chr9	124528809	124528809	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagaggtgtttgcctcGtggaggcaggagtgcagcag	9	9	17	6	1	0	2	0	1	0	1	1	4	0	4	1	4	3	4	1	4	1	2	rs371966536		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr9:124528809G>T	ENST00000408936.3	+	9	1679	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S	DAB2IP_ENST00000309989.1_Silent_p.S375S|DAB2IP_ENST00000259371.2_Silent_p.S471S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	499	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|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 ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.S375S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGTTTGCCTCGTGGAGGCAGG	0.632																																					p.S471S													DAB2IP_ENST00000259371,rectum,carcinoma,0,3	DAB2IP_ENST00000259371	0	3	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G1413T												56	52	54					9																	124528809		2203	4300	6503	SO:0001819	synonymous_variant	153090	exon9			TGCCTCGTGGAGG	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1497G>T	9.37:g.124528809G>T			27	0	0		24	0.08	2	NM_032552	21	0	0	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37																																																																																						0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000317857.1		NM_032552		T	124528809	G	T	124528809	2	4	29	1	0	0	0	0	0	0	0	1	4221	1132	40	1		1	DAB2IP	9	124528809	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	89131171	124528809	16684622	39	1996											
SURF4	6836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	136234314	136234314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtactgctttgtgacaCggaggaactgcagggccaca	10	7	14	10	1	0	1	0	1	0	0	0	3	0	3	1	4	4	4	1	4	2	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr9:136234314C>T	ENST00000371989.3	-	2	185	c.56G>A	c.(55-57)cGt>cAt	p.R19H	SURF4_ENST00000371991.3_Missense_Mutation_p.R19H|SURF4_ENST00000485435.2_Missense_Mutation_p.R19H|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Missense_Mutation_p.R19H	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	19					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CTTTGTGACACGGAGGAACTG	0.657																																					p.R19H													.	.			0			c.G56A												70	62	65					9																	136234314		2203	4300	6503	SO:0001583	missense	6836	exon2			GTGACACGGAGGA		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.56G>A	9.37:g.136234314C>T	ENSP00000361057:p.Arg19His		49	0	0		41	0.12	5	NM_033161	186	0.25	47	B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	ENST00000371989.3	37	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031785	0.93575	.	.	ENSG00000148248	ENST00000371989;ENST00000485435;ENST00000545297;ENST00000541390;ENST00000371991	.	.	.	4.97	4.97	0.65823	.	0.062561	0.64402	D	0.000007	T	0.62073	0.2398	L	0.56280	1.765	0.80722	D	1	D;P;D;P	0.56968	0.978;0.899;0.973;0.899	P;P;P;P	0.48873	0.593;0.484;0.48;0.567	T	0.66376	-0.5939	9	0.54805	T	0.06	-1.4315	17.2458	0.87027	0.0:1.0:0.0:0.0	.	19;10;19;19	B7Z6A4;B7Z7A8;O15260-2;O15260	.;.;.;SURF4_HUMAN	H	19;19;19;10;19	.	ENSP00000361057:R19H	R	-	2	0	SURF4	135224135	1.000000	0.71417	0.847000	0.33407	0.989000	0.77384	7.601000	0.82783	2.290000	0.77057	0.655000	0.94253	CGT			0.657	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054886.1		NM_033161		T	136234314	C	T	136234314	3	4	29	1	0	0	0	0	1	0	0	0	15428	536	19	1	773	1	SURF4	9	136234314	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	11705505	136234314	4979117	40	1997											
SNAPC4	6621	mdanderson.org	37	chr9	139272510	139272510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccaggctggggtaggggcgGcttctccaggtccagggccc	4	6	17	14	1	1	0	0	0	1	0	3	0	2	0	4	8	0	3	4	8	1	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr9:139272510G>T	ENST00000298532.2	-	21	4137	c.3769C>A	c.(3769-3771)Ccg>Acg	p.P1257T		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)		GGTAGGGGCGGCTTCTCCAGG	0.741																																					p.P1257T													.	.			0			c.C3769A												4	4	4					9																	139272510		1843	3742	5585	SO:0001583	missense	6621	exon21			GGGGCGGCTTCTC	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.3769C>A	9.37:g.139272510G>T	ENSP00000298532:p.Pro1257Thr		46	0	0		28	0.11	3	NM_003086	17	0	0		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	g	8.507	0.865587	0.17250	.	.	ENSG00000165684	ENST00000298532	T	0.32272	1.46	1.6	-3.2	0.05156	.	0.810672	0.10958	N	0.615271	T	0.23210	0.0561	L	0.54323	1.7	0.09310	N	1	P	0.35700	0.516	B	0.37267	0.245	T	0.17930	-1.0353	10	0.41790	T	0.15	-1.5917	3.5814	0.07955	0.3006:0.207:0.4923:0.0	.	1257	Q5SXM2	SNPC4_HUMAN	T	1257	ENSP00000298532:P1257T	ENSP00000298532:P1257T	P	-	1	0	SNAPC4	138392331	0.049000	0.20398	0.000000	0.03702	0.003000	0.03518	-0.287000	0.08388	-0.599000	0.05798	0.306000	0.20318	CCG			0.741	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055071.1		NM_003086		T	139272510	G	T	139272510	3	4	29	1	0	0	0	0	1	0	0	0	14860	1203	42	2	648	2	SNAPC4	9	139272510	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	3038196	139272510	1940921	41	1998											
ANKRD16	54522	mdanderson.org	37	chr10	5920171	5920171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccagggtgcccgtgatGtcttcagaatccttcagtcc	7	11	11	12	1	3	3	2	2	1	1	5	3	5	3	4	1	2	0	4	1	1	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr10:5920171G>T	ENST00000380094.5	-	7	1551	c.1008C>A	c.(1006-1008)gaC>gaA	p.D336E	ANKRD16_ENST00000380092.4_Missense_Mutation_p.D336E|ANKRD16_ENST00000191063.8_3'UTR	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	336										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TGCCCGTGATGTCTTCAGAAT	0.557																																					p.D336E													.	.			0			c.C1008A												139	132	135					10																	5920171		2203	4300	6503	SO:0001583	missense	54522	exon7			CGTGATGTCTTCA	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"Ankyrin repeat domain containing"	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.1008C>A	10.37:g.5920171G>T	ENSP00000369436:p.Asp336Glu		52	0	0		24	0.13	3	NM_001009941	26	0	0	A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112543	0.37242	.	.	ENSG00000134461	ENST00000380094;ENST00000380092	T;T	0.68025	-0.3;-0.3	4.97	1.06	0.20224	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.62469	-0.6848	10	0.42905	T	0.14	-27.8211	8.4806	0.33040	0.3241:0.0:0.6759:0.0	.	336	Q6P6B7	ANR16_HUMAN	E	336	ENSP00000369436:D336E;ENSP00000369434:D336E	ENSP00000369434:D336E	D	-	3	2	ANKRD16	5960177	0.691000	0.27709	0.004000	0.12327	0.040000	0.13550	0.819000	0.27308	-0.066000	0.12998	0.305000	0.20034	GAC			0.557	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046611.2		XM_166138		T	5920171	G	T	5920171	3	4	29	1	0	0	0	0	1	0	0	0	645	1368	48	3	81	3	ANKRD16	10	5920171	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		5920171	129614576	42	1999											
POLR3A	11128	mdanderson.org	37	chr10	79742493	79742493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtgacacacaccacaGcctcaccatgaacagccaca	13	4	9	15	0	1	2	1	2	0	0	1	2	1	2	4	2	3	0	4	2	1	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr10:79742493G>T	ENST00000372371.3	-	27	3649	c.3512C>A	c.(3511-3513)gCt>gAt	p.A1171D		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1171					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ACACACCACAGCCTCACCATG	0.537																																					p.A1171D													.	.			0			c.C3512A												120	99	106					10																	79742493		2203	4300	6503	SO:0001583	missense	11128	exon27			ACCACAGCCTCAC	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3512C>A	10.37:g.79742493G>T	ENSP00000361446:p.Ala1171Asp		81	0	0		58	0.07	4	NM_007055	32	0	0	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160801	0.38119	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.62105	0.05	6.07	6.07	0.98685	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	N	0.03000	-0.44	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.36890	-0.9729	9	.	.	.	-19.7455	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1171	O14802	RPC1_HUMAN	D	1171;1150	ENSP00000361446:A1171D	.	A	-	2	0	POLR3A	79412499	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.271000	0.95698	2.884000	0.98904	0.655000	0.94253	GCT			0.537	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048923.1		NM_007055		T	79742493	G	T	79742493	3	4	29	1	0	0	0	0	1	0	0	0	12245	971	34	2	680	2	POLR3A	10	79742493	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	73822322	79742493	55792254	43	2000											
TRIM5	85363	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	5699638	5699638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaaaatctgccaagacGttggttttgtcatactgtat	10	15	8	8	1	3	1	2	0	1	1	3	1	3	1	1	1	3	4	1	1	5	5	rs182373551		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr11:5699638G>A	ENST00000380034.3	-	4	796	c.540C>T	c.(538-540)aaC>aaT	p.N180N	TRIM5_ENST00000396847.3_Silent_p.N180N|TRIM5_ENST00000396855.3_Silent_p.N180N|TRIM5_ENST00000305836.5_Silent_p.N180N|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Silent_p.N180N|TRIM5_ENST00000380027.1_Silent_p.N180N	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	180					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)		CTGCCAAGACGTTGGTTTTGT	0.473													G|||	1	0.000199681	0	0	5008	,	,		19910	0.001		0	False		,,,				2504	0				p.N180N													TRIM5_ENST00000380034,extremity,malignant_melanoma,-1,2	TRIM5_ENST00000380034	-1	2	0			c.C540T												115	111	113					11																	5699638		2201	4297	6498	SO:0001819	synonymous_variant	85363	exon4			CAAGACGTTGGTT	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.540C>T	11.37:g.5699638G>A			178	0	0		131	0.06	8	NM_033093	11	0	0	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	CCDS31393.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.528	-0.096421	0.07010	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	1.11	0.20524	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22487	-1.0215	4	.	.	.	.	2.6533	0.05004	0.5569:0.0:0.2459:0.1972	.	.	.	.	M	57	.	.	T	-	2	0	TRIM5	5656214	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.010000	0.13242	0.076000	0.16826	0.655000	0.94253	ACG	0		0.473	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000143360.3		NM_033034		A	5699638	G	A	5699638	2	1	29	1	0	0	0	0	0	0	0	1	16549	1136	40	1		1	TRIM5	11	5699638	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		5699638	129306878	44	2001											
SPRYD5	84767	broad.mit.edu	37	chr11	55657490	55657490	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcccatcactggactGctggacagcctcagtggatt	8	8	13	12	0	2	0	2	0	0	0	2	3	2	3	2	4	2	2	2	4	0	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr11:55657490G>T	ENST00000449290.2	+	6	926	c.834G>T	c.(832-834)ctG>ctT	p.L278L	TRIM51_ENST00000244891.3_Silent_p.L135L	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	278	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCACTGGACTGCTGGACAGCC	0.502																																					p.L278L													.	.			0			c.G834T												51	47	48					11																	55657490		2201	4295	6496	SO:0001819	synonymous_variant	84767	exon6			TGGACTGCTGGAC	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.834G>T	11.37:g.55657490G>T			50	0	0		48	0.06	3	NM_032681	0		0	A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																						0.502	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000391522.1		NM_032681		T	55657490	G	T	55657490	2	4	29	1	0	0	0	0	0	0	0	1	15134	1306	46	2		2	SPRYD5	11	55657490	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	49957852	55657490	79349026	45	2002											
PATL1	219988	mdanderson.org	37	chr11	59425075	59425075	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctctaacaggaggactGccaatgataggtgaagttga	14	8	12	7	0	1	3	0	3	1	0	1	5	1	5	1	3	3	2	1	3	4	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr11:59425075G>A	ENST00000300146.9	-	5	633	c.549C>T	c.(547-549)ggC>ggT	p.G183G		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	183	Involved in nuclear foci localization.|Pro-rich.|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						CAGGAGGACTGCCAATGATAG	0.532																																					p.G183G													.	.			0			c.C549T												126	120	122					11																	59425075		1918	4122	6040	SO:0001819	synonymous_variant	219988	exon5			AGGACTGCCAATG	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.549C>T	11.37:g.59425075G>A			46	0	0		33	0.09	3	NM_152716	26	0	0	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	37	CCDS44613.1																																																																																					0.532	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394559.1		NM_152716		A	59425075	G	A	59425075	2	1	29	1	0	0	0	0	0	0	0	1	11492	1306	46	2		2	PATL1	11	59425075	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	3767585	59425075	75581441	46	2003											
EHBP1L1	254102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65350457	65350457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggggcagcagaaggtGcgatattggggacccaagag	12	5	17	7	1	0	3	0	0	0	3	0	5	0	4	1	5	2	2	1	5	3	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr11:65350457G>A	ENST00000309295.4	+	9	2579	c.2314G>A	c.(2314-2316)Gcg>Acg	p.A772T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	772	Glu-rich.					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						AGCAGAAGGTGCGATATTGGG	0.517																																					p.A772T													.	.			0			c.G2314A												39	39	39					11																	65350457		1880	4104	5984	SO:0001583	missense	254102	exon9			GAAGGTGCGATAT	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.2314G>A	11.37:g.65350457G>A	ENSP00000312671:p.Ala772Thr		88	0	0		80	0.21	17	NM_001099409	43	0.19	8	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893676	0.33442	.	.	ENSG00000173442	ENST00000309295	T	0.63417	-0.04	4.71	0.305	0.15801	.	.	.	.	.	T	0.34687	0.0906	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.19666	0.026	T	0.17410	-1.0370	9	0.44086	T	0.13	.	5.4634	0.16630	0.2719:0.1475:0.5806:0.0	.	772	Q8N3D4	EH1L1_HUMAN	T	772	ENSP00000312671:A772T	ENSP00000312671:A772T	A	+	1	0	EHBP1L1	65107033	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.780000	0.26760	0.414000	0.25790	-0.150000	0.13652	GCG			0.517	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390145.1		XM_170658		A	65350457	G	A	65350457	3	1	29	1	0	0	0	0	1	0	0	0	4981	1319	46	2	2348	2	EHBP1L1	11	65350457	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	5925382	65350457	69656059	47	2004											
CEP57	9702	mdanderson.org	37	chr11	95562419	95562419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaagacaagttggagtGtgaattggaggcattagtgg	13	10	15	3	0	0	3	0	2	0	1	0	5	0	5	0	4	0	2	0	4	4	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr11:95562419G>T	ENST00000325542.5	+	10	1434	c.1196G>T	c.(1195-1197)tGt>tTt	p.C399F	CEP57_ENST00000537677.1_Missense_Mutation_p.C372F|CEP57_ENST00000325486.5_Missense_Mutation_p.C373F|CEP57_ENST00000541150.1_Missense_Mutation_p.C390F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	399	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGTTGGAGTGTGAATTGGAG	0.418									Mosaic Variegated Aneuploidy Syndrome																												p.C399F													.	.			0			c.G1196T												209	210	210					11																	95562419		2201	4298	6499	SO:0001583	missense	9702	exon10	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	TGGAGTGTGAATT	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1196G>T	11.37:g.95562419G>T	ENSP00000317902:p.Cys399Phe		63	0	0		41	0.07	3	NM_014679	100	0	0	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307956	0.60305	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150	T;T;T;T	0.31510	1.51;1.5;1.49;1.5	5.54	2.61	0.31194	.	0.215927	0.40818	N	0.001019	T	0.30572	0.0769	L	0.32530	0.975	0.31891	N	0.617224	D;P;D	0.56287	0.969;0.554;0.975	P;B;P	0.51974	0.558;0.331;0.686	T	0.36841	-0.9731	10	0.87932	D	0	-18.4477	8.4224	0.32710	0.135:0.0:0.7399:0.1251	.	390;373;399	F5H5F7;Q86XR8-2;Q86XR8	.;.;CEP57_HUMAN	F	372;399;373;390	ENSP00000441392:C372F;ENSP00000317902:C399F;ENSP00000317487:C373F;ENSP00000443436:C390F	ENSP00000317487:C373F	C	+	2	0	CEP57	95202067	1.000000	0.71417	0.980000	0.43619	0.756000	0.42949	4.244000	0.58728	0.691000	0.31592	0.491000	0.48974	TGT			0.418	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395983.1		NM_014679		T	95562419	G	T	95562419	3	4	29	1	0	0	0	0	1	0	0	0	3258	1377	48	3	1234	3	CEP57	11	95562419	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	30211962	95562419	39444097	48	2005											
DSCAML1	57453	mdanderson.org	37	chr11	117301733	117301733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactctcagtggacaccatGctgttccttcctttgtctgg	5	14	9	13	0	2	0	1	0	2	0	5	1	4	1	3	2	1	3	3	2	0	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr11:117301733G>T	ENST00000321322.6	-	32	5572	c.5571C>A	c.(5569-5571)agC>agA	p.S1857R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1587R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1797					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)		TGGACACCATGCTGTTCCTTC	0.582																																					p.S1857R													.	.			0			c.C5571A												103	95	98					11																	117301733		2201	4296	6497	SO:0001583	missense	57453	exon32			CACCATGCTGTTC		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.5571C>A	11.37:g.117301733G>T	ENSP00000315465:p.Ser1857Arg		44	0	0		34	0.09	3	NM_020693	4	0	0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564900	0.65651	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.70164	-0.4;-0.46	5.04	5.04	0.67666	.	.	.	.	.	T	0.70806	0.3266	L	0.27053	0.805	0.58432	D	0.999995	D	0.76494	0.999	D	0.87578	0.998	T	0.73329	-0.4017	9	0.87932	D	0	.	11.9672	0.53042	0.0792:0.0:0.9208:0.0	.	1797	Q8TD84	DSCL1_HUMAN	R	1587;1857;1564	ENSP00000434335:S1587R;ENSP00000315465:S1857R	ENSP00000315465:S1857R	S	-	3	2	DSCAML1	116806943	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.785000	0.62418	2.628000	0.89032	0.591000	0.81541	AGC			0.582	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392907.2		NM_020693		T	117301733	G	T	117301733	3	4	29	1	0	0	0	0	1	0	0	0	4774	1310	46	2	778	2	DSCAML1	11	117301733	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	21739314	117301733	17704783	49	2006											
FOXM1	2305	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	2983605	2983605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaaggggcagcctccGtcttttgagaatcagtggcc	10	8	13	10	1	2	1	1	1	1	1	3	3	3	2	3	4	2	1	3	4	3	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr12:2983605G>A	ENST00000359843.3	-	2	108	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.R14W|RHNO1_ENST00000461997.2_5'Flank|FOXM1_ENST00000361953.3_Missense_Mutation_p.R14W|RHNO1_ENST00000489288.2_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	14					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)			GGCAGCCTCCGTCTTTTGAGA	0.493																																					p.R14W													.	.			0			c.C40T												95	111	106					12																	2983605		2203	4300	6503	SO:0001583	missense	2305	exon2			GCCTCCGTCTTTT	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.40C>T	12.37:g.2983605G>A	ENSP00000352901:p.Arg14Trp		55	0	0		100	0.06	6	NM_001243089	86	0.01	1	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787289	0.49997	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.97352	-4.02;-4.35;-4.21	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	M	0.76002	2.32	0.51767	D	0.999936	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;0.999;1.0	D	0.98525	1.0625	10	0.87932	D	0	.	14.4026	0.67060	0.0:0.0:0.8523:0.1477	.	14;14;14;14;14	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	W	14	ENSP00000342307:R14W;ENSP00000354492:R14W;ENSP00000352901:R14W	ENSP00000342307:R14W	R	-	1	2	FOXM1	2853866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.845000	0.55880	2.674000	0.91012	0.655000	0.94253	CGG			0.493	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000398272.1		NM_021953		A	2983605	G	A	2983605	3	1	29	1	0	0	0	0	1	0	0	0	6031	1144	40	1	2401	1	FOXM1	12	2983605	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		2983605	130868290	50	2007											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438980	6438980	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgggcgctgtcctcccActtctgaagggggttgggga	4	11	16	10	1	1	1	0	1	1	0	3	2	3	2	2	5	0	2	2	5	1	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr12:6438980A>C	ENST00000162749.2	-	9	1320	c.1021T>G	c.(1021-1023)Tgg>Ggg	p.W341G	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.W298G	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	341	N-SMase activation domain (NSD).				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CTGTCCTCCCACTTCTGAAGG	0.697																																					p.W341G													.	TNFRSF1A	39		0			c.T1021G												9	10	10					12																	6438980		2192	4279	6471	SO:0001583	missense	7132	exon9			CCTCCCACTTCTG	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1021T>G	12.37:g.6438980A>C	ENSP00000162749:p.Trp341Gly		62	0.1612903226	10		130	0.13	17	NM_001065	533	0.02	13	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	A	9.814	1.183850	0.21870	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.91945	-2.93;-2.94	4.09	-8.18	0.01053	DEATH-like (1);	5.493010	0.00166	N	0.000000	D	0.90628	0.7061	M	0.63843	1.955	0.09310	N	0.999998	D;B	0.56521	0.976;0.016	P;B	0.54140	0.743;0.005	D	0.83975	0.0329	10	0.45353	T	0.12	-0.0162	0.3549	0.00355	0.2611:0.2964:0.1992:0.2432	.	298;341	F5H061;P19438	.;TNR1A_HUMAN	G	341;298	ENSP00000162749:W341G;ENSP00000438343:W298G	ENSP00000162749:W341G	W	-	1	0	TNFRSF1A	6309241	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.674000	0.01949	-1.468000	0.01892	-0.366000	0.07423	TGG			0.697	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399038.1		NM_001065		C	6438980	A	C	6438980	3	2	29	1	0	0	0	0	1	0	0	0	16316	159	6	4	354	4	TNFRSF1A	12	6438980	Missense_Mutation	SNP	A	TCGA-2G-AAGG-01A-11D-A42Y-10	3455375	6438980	127412915	51	2008											
KRT81	3887	hgsc.bcm.edu;broad.mit.edu	37	chr12	52681795	52681795	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtaccaggactcggcctcGgcccggctgcgggtgacaat	6	6	15	14	5	0	1	0	1	0	0	2	2	0	2	3	6	2	2	3	6	2	1	rs200239075	byFrequency	TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr12:52681795G>T	ENST00000327741.5	-	5	941	c.873C>A	c.(871-873)gcC>gcA	p.A291A	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	291	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCGGCCTCGGCCCGGCTGC	0.562																																					p.A291A													KRT81,NS,lymphoid_neoplasm,0,1	KRT81	0	1	0			c.C873A												97	83	88					12																	52681795		2203	4300	6503	SO:0001819	synonymous_variant	3887	exon5			GGCCTCGGCCCGG	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.873C>A	12.37:g.52681795G>T			73	0	0		97	0.04	4	NM_002281	0		0	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																					0.562	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395128.2		NM_002281		T	52681795	G	T	52681795	2	4	29	1	0	0	0	0	0	0	0	1	8510	1103	39	1		1	KRT81	12	52681795	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	46242815	52681795	81170100	52	2009											
DOCK9	23348	broad.mit.edu;mdanderson.org	37	chr13	99449463	99449463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcttctttaatcagaCgttcgtttaccgctaaggct	7	15	9	10	3	3	1	1	0	2	1	4	1	3	1	1	2	1	5	1	2	3	7			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr13:99449463C>T	ENST00000376460.1	-	55	6184	c.6104G>A	c.(6103-6105)cGt>cAt	p.R2035H	DOCK9_ENST00000339416.2_Missense_Mutation_p.R2022H	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	2036	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTAATCAGACGTTCGTTTAC	0.488																																					.													.	DOCK9	311		0			.												110	101	104					13																	99449463		1976	4150	6126	SO:0001583	missense	23348	.			ATCAGACGTTCGT	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.6104G>A	13.37:g.99449463C>T	ENSP00000365643:p.Arg2035His		175	0	0		116	0.06	7	.	45	0	0	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011532	0.93346	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453	T;T	0.18174	2.23;2.23	5.53	5.53	0.82687	.	0.056540	0.64402	D	0.000001	T	0.48466	0.1501	M	0.83692	2.655	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.999;0.996	D;D;D;D;D;D	0.75484	0.986;0.96;0.983;0.953;0.946;0.933	T	0.52756	-0.8533	10	0.87932	D	0	.	19.4713	0.94963	0.0:1.0:0.0:0.0	.	741;654;2035;2036;691;653	B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4	.;.;.;DOCK9_HUMAN;.;.	H	2035;2036;2028;2013;2035;943;2022;653	ENSP00000365643:R2035H;ENSP00000341086:R2022H	ENSP00000341086:R2022H	R	-	2	0	DOCK9	98247464	1.000000	0.71417	0.940000	0.37924	0.735000	0.41995	7.487000	0.81328	2.587000	0.87381	0.563000	0.77884	CGT			0.488	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045566.1		NM_015296		T	99449463	C	T	99449463	3	4	29	1	0	0	0	0	1	0	0	0	4699	536	19	1	114	1	DOCK9	13	99449463	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10		99449463	15720415	53	2010											
GAS6	2621	mdanderson.org	37	chr13	114538575	114538575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttcttgcagcgcgcctccCcgcaggcctccgagtctgcg	3	8	13	17	5	2	0	0	0	2	0	4	1	4	0	5	2	3	3	5	2	0	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr13:114538575C>A	ENST00000327773.6	-	7	769	c.623G>T	c.(622-624)gGg>gTg	p.G208V	GAS6_ENST00000418959.3_5'Flank|GAS6_ENST00000355761.4_Missense_Mutation_p.G154V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.G208V|GAS6_ENST00000450766.1_5'UTR	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	208	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCGCGCCTCCCCGCAGGCCTC	0.652																																					p.G208V													.	.			0			c.G623T												61	64	63					13																	114538575		2199	4292	6491	SO:0001583	missense	2621	exon7			GCCTCCCCGCAGG		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.623G>T	13.37:g.114538575C>A	ENSP00000331831:p.Gly208Val		92	0	0		47	0.06	3	NM_000820	115	0	0	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.319990	0.41096	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.91945	-2.94;-2.94;-2.94	4.71	4.71	0.59529	.	.	.	.	.	D	0.93275	0.7857	L	0.39085	1.19	0.43226	D	0.995111	D	0.76494	0.999	D	0.74023	0.982	D	0.93540	0.6877	9	0.52906	T	0.07	-24.1058	14.3777	0.66889	0.0:1.0:0.0:0.0	.	208	Q14393-2	.	V	208;154;208	ENSP00000349962:G208V;ENSP00000348003:G154V;ENSP00000331831:G208V	ENSP00000331831:G208V	G	-	2	0	GAS6	113575368	0.994000	0.37717	0.881000	0.34555	0.230000	0.25150	2.240000	0.43088	2.151000	0.67156	0.430000	0.28490	GGG			0.652	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000045946.2		NM_000820		A	114538575	C	A	114538575	3	1	29	1	0	0	0	0	1	0	0	0	6263	623	22	3	1449	3	GAS6	13	114538575	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	15089112	114538575	631303	54	2011											
SALL2	6297	mdanderson.org	37	chr14	21992828	21992828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttggcttcaggagccctGgggaggcagtggcctcaagg	6	9	16	10	0	3	0	2	0	1	0	3	2	3	2	2	7	1	2	2	7	1	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr14:21992828G>T	ENST00000327430.3	-	2	1328	c.1034C>A	c.(1033-1035)cCa>cAa	p.P345Q	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.P208Q|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	345					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(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGAGCCCTGGGGAGGCAGT	0.597																																					p.P345Q													SALL2,NS,carcinoma,0,1	SALL2	0	1	0			c.C1034A												36	37	37					14																	21992828		2203	4300	6503	SO:0001583	missense	6297	exon2			AGCCCTGGGGAGG	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1034C>A	14.37:g.21992828G>T	ENSP00000333537:p.Pro345Gln		55	0	0		33	0.09	3	NM_005407	32	0	0	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.87|12.87	2.067423|2.067423	0.36470|0.36470	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879;ENST00000541876|ENST00000546363	T;T|.	0.05717|.	3.45;3.4|.	4.3|4.3	3.42|3.42	0.39159|0.39159	.|.	0.000000|.	0.37623|.	N|.	0.002017|.	T|T	0.28433|0.28433	0.0703|0.0703	N|N	0.08118|0.08118	0|0	0.34558|0.34558	D|D	0.712014|0.712014	D;D;D;D|.	0.89917|.	0.998;0.998;0.971;1.0|.	D;D;P;D|.	0.83275|.	0.991;0.991;0.543;0.996|.	T|T	0.35400|0.35400	-0.9790|-0.9790	10|5	0.07644|.	T|.	0.81|.	-21.1375|-21.1375	9.89|9.89	0.41285|0.41285	0.1005:0.0:0.8995:0.0|0.1005:0.0:0.8995:0.0	.|.	208;208;343;345|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	Q|K	345;208;345|204	ENSP00000333537:P345Q;ENSP00000396773:P208Q|.	ENSP00000333537:P345Q|.	P|Q	-|-	2|1	0|0	SALL2|SALL2	21062668|21062668	0.992000|0.992000	0.36948|0.36948	0.994000|0.994000	0.49952|0.49952	0.979000|0.979000	0.70002|0.70002	2.285000|2.285000	0.43487|0.43487	1.031000|1.031000	0.39867|0.39867	-0.136000|-0.136000	0.14681|0.14681	CCA|CAG			0.597	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401242.1		NM_005407		T	21992828	G	T	21992828	3	4	29	1	0	0	0	0	1	0	0	0	13834	1348	47	3	1993	3	SALL2	14	21992828	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		21992828	85356712	55	2012											
PLEKHH1	57475	mdanderson.org	37	chr14	68035891	68035891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggccacatcgggcatgCggctctcagatatgtctccc	6	10	11	14	2	2	1	1	0	2	1	5	1	2	1	2	3	1	2	2	3	1	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr14:68035891C>T	ENST00000329153.5	+	8	1432	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	434						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATCGGGCATGCGGCTCTCAGA	0.592																																					p.R434W													.	.			0			c.C1300T												76	79	78					14																	68035891		1950	4151	6101	SO:0001583	missense	57475	exon8			GGCATGCGGCTCT	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1300C>T	14.37:g.68035891C>T	ENSP00000330278:p.Arg434Trp		43	0	0		44	0.07	3	NM_020715	7	0	0	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021824	0.54576	.	.	ENSG00000054690	ENST00000329153	T	0.22743	1.94	4.45	3.56	0.40772	.	0.357198	0.27901	N	0.017398	T	0.31918	0.0812	M	0.67397	2.05	0.80722	D	1	D	0.65815	0.995	P	0.51701	0.677	T	0.09509	-1.0671	10	0.72032	D	0.01	.	10.3032	0.43665	0.4495:0.5504:0.0:0.0	.	434	Q9ULM0	PKHH1_HUMAN	W	434	ENSP00000330278:R434W	ENSP00000330278:R434W	R	+	1	2	PLEKHH1	67105644	1.000000	0.71417	0.996000	0.52242	0.636000	0.38137	1.006000	0.29847	1.051000	0.40369	0.561000	0.74099	CGG			0.592	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412730.3		XM_031054		T	68035891	C	T	68035891	3	4	29	1	0	0	0	0	1	0	0	0	12093	759	27	1	1326	1	PLEKHH1	14	68035891	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	46043063	68035891	39313649	56	2013											
RPAP1	26015	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	41819688	41819688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagggcttttcctttttGcttttcctgctgggcattct	2	20	8	11	0	2	0	1	0	1	0	4	0	4	0	2	2	2	4	2	2	0	8			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr15:41819688G>A	ENST00000304330.4	-	12	1660	c.1544C>T	c.(1543-1545)gCa>gTa	p.A515V	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.A515V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	515						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)		TTTCCTTTTTGCTTTTCCTGC	0.537																																					p.A515V													.	.			0			c.C1544T												94	94	94					15																	41819688		2203	4300	6503	SO:0001583	missense	26015	exon12			CTTTTTGCTTTTC	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.1544C>T	15.37:g.41819688G>A	ENSP00000306123:p.Ala515Val		105	0	0		88	0.09	8	NM_015540	28	0.07	2	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904213	0.17760	.	.	ENSG00000103932	ENST00000304330	T	0.12774	2.65	5.61	4.69	0.59074	.	0.444896	0.25222	N	0.032227	T	0.09730	0.0239	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.19582	-1.0301	10	0.87932	D	0	-6.6459	8.6624	0.34101	0.078:0.0:0.7712:0.1508	.	515	Q9BWH6	RPAP1_HUMAN	V	515	ENSP00000306123:A515V	ENSP00000306123:A515V	A	-	2	0	RPAP1	39606980	0.380000	0.25131	0.022000	0.16811	0.054000	0.15201	2.855000	0.48333	1.484000	0.48361	0.655000	0.94253	GCA			0.537	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252694.2		NM_015540		A	41819688	G	A	41819688	3	1	29	1	0	0	0	0	1	0	0	0	13564	1319	46	2	2693	2	RPAP1	15	41819688	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		41819688	60711704	57	2014											
SLTM	79811	broad.mit.edu	37	chr15	59175946	59175946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtccgcttgtgtcccGtccatggcgttcaaccacat	5	12	9	15	3	1	0	1	0	0	0	4	0	4	0	5	2	1	2	5	2	1	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr15:59175946G>A	ENST00000380516.2	-	20	2962	c.2875C>T	c.(2875-2877)Cgg>Tgg	p.R959W	SLTM_ENST00000536328.1_Missense_Mutation_p.R528W	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	959					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGTGTCCCGTCCATGGCGT	0.547																																					p.R959W													SLTM,colon,carcinoma,+1,1	SLTM	90	1	0			c.C2875T												160	132	141					15																	59175946		2192	4292	6484	SO:0001583	missense	79811	exon20			TGTCCCGTCCATG	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2875C>T	15.37:g.59175946G>A	ENSP00000369887:p.Arg959Trp		189	0	0		140	0.04	5	NM_024755	122	0.07	9	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488240	0.84854	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.17370	2.28	5.89	5.89	0.94794	.	0.000000	0.52532	D	0.000063	T	0.38108	0.1028	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.03103	-1.1072	10	0.87932	D	0	.	15.022	0.71637	0.0:0.0:0.8578:0.1422	.	959;528	Q9NWH9;A8K5V8	SLTM_HUMAN;.	W	959;525;528	ENSP00000369887:R959W	ENSP00000369887:R959W	R	-	1	2	SLTM	56963238	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.809000	0.47971	2.788000	0.95919	0.557000	0.71058	CGG			0.547	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157124.1	rescued with RNA-seq	NM_024755		A	59175946	G	A	59175946	3	1	29	1	0	0	0	0	1	0	0	0	14777	1144	40	1	237	1	SLTM	15	59175946	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	17356258	59175946	43355446	58	2015											
PIF1	80119	mdanderson.org	37	chr15	65116191	65116191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcaatgtgcgcaggaagCggcgcaggcggtctgggggg	6	4	22	9	5	1	0	0	0	1	0	1	1	1	1	0	8	2	3	0	8	2	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr15:65116191C>T	ENST00000268043.4	-	2	438	c.344G>A	c.(343-345)cGc>cAc	p.R115H	PIF1_ENST00000333425.6_Missense_Mutation_p.R115H|PIF1_ENST00000559239.1_Missense_Mutation_p.R115H					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						GCGCAGGAAGCGGCGCAGGCG	0.791																																					p.R115H													.	.			0			c.G344A																																									SO:0001583	missense	80119	exon2			AGGAAGCGGCGCA	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.344G>A	15.37:g.65116191C>T	ENSP00000268043:p.Arg115His		18	0	0		9	0.22	2	NM_025049	0		0		Missense_Mutation	SNP	ENST00000268043.4	37	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862634	0.32884	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77098	-0.04;-1.07	4.58	4.58	0.56647	.	0.183969	0.49305	D	0.000142	T	0.81437	0.4822	L	0.53249	1.67	0.43304	D	0.995302	D;B	0.89917	1.0;0.051	D;B	0.87578	0.998;0.008	T	0.76677	-0.2871	10	0.12103	T	0.63	-19.0255	8.9953	0.36048	0.0:0.8975:0.0:0.1025	.	115;115	Q9H611-2;Q9H611	.;PIF1_HUMAN	H	115	ENSP00000268043:R115H;ENSP00000328174:R115H	ENSP00000268043:R115H	R	-	2	0	PIF1	62903244	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.770000	0.38532	2.247000	0.74100	0.313000	0.20887	CGC			0.791	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256533.1		NM_025049		T	65116191	C	T	65116191	3	4	29	1	0	0	0	0	1	0	0	0	11900	768	27	1	1629	1	PIF1	15	65116191	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	5940245	65116191	37415201	59	2016											
DENND4A	10260	mdanderson.org	37	chr15	65962392	65962392	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatttctatattcagaaaGggtaagaagatattgccaca	15	13	7	6	0	2	3	1	0	1	3	2	3	2	3	1	1	1	1	1	1	7	8			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr15:65962392G>T	ENST00000431932.2	-	25	4675	c.4467C>A	c.(4465-4467)ccC>ccA	p.P1489P	DENND4A_ENST00000443035.3_Silent_p.P1532P	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1489					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TATTCAGAAAGGGTAAGAAGA	0.363																																					p.P1532P													.	.			0			c.C4596A												64	63	63					15																	65962392		1838	4095	5933	SO:0001819	synonymous_variant	10260	exon26			CAGAAAGGGTAAG	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4467C>A	15.37:g.65962392G>T			75	0	0		50	0.06	3	NM_001144823	9	0	0	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	CCDS45285.1																																																																																					0.363	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419611.1		NM_005848		T	65962392	G	T	65962392	2	4	29	1	0	0	0	0	0	0	0	1	4438	987	35	3		3	DENND4A	15	65962392	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	846201	65962392	36569000	60	2017											
ZDHHC1	29800	mdanderson.org	37	chr16	67428728	67428728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcgccggcagggccagCggcgtgcacagggctggcgt	5	4	20	12	5	0	0	0	0	0	0	0	0	0	0	2	6	2	4	2	6	1	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr16:67428728C>T	ENST00000348579.2	-	11	1640	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	TPPP3_ENST00000564104.1_5'Flank|TPPP3_ENST00000562206.1_5'Flank|ZDHHC1_ENST00000566075.1_5'UTR|TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000393957.2_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	433					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GCAGGGCCAGCGGCGTGCACA	0.741																																					p.P433P													.	.			0			c.G1299A												2	3	3					16																	67428728		1710	3505	5215	SO:0001819	synonymous_variant	29800	exon11			GGCCAGCGGCGTG	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1299G>A	16.37:g.67428728C>T			8	0	0		14	0.21	3	NM_013304	5	0	0	O15461	Silent	SNP	ENST00000348579.2	37	CCDS10836.1																																																																																					0.741	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268845.1		NM_013304		T	67428728	C	T	67428728	2	4	29	1	0	0	0	0	0	0	0	1	17623	755	27	1		1	ZDHHC1	16	67428728	Silent	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10		67428728	22926025	61	2018											
ALOX12	239	mdanderson.org	37	chr17	6900302	6900302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccttcccgtgctaccGctgggtgcagggcgaggaca	5	7	17	12	3	0	0	0	0	0	0	1	2	1	1	3	5	3	3	3	5	1	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:6900302G>A	ENST00000251535.6	+	2	346	c.293G>A	c.(292-294)cGc>cAc	p.R98H	RP11-589P10.5_ENST00000573222.1_lincRNA|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	98	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				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						CCGTGCTACCGCTGGGTGCAG	0.706																																					p.R98H													.	.			0			c.G293A												22	17	19					17																	6900302		2194	4293	6487	SO:0001583	missense	239	exon2			GCTACCGCTGGGT	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.293G>A	17.37:g.6900302G>A	ENSP00000251535:p.Arg98His		13	0	0		37	0.08	3	NM_000697	8	0	0	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975124	0.53720	.	.	ENSG00000108839	ENST00000251535	T	0.67345	-0.26	4.46	1.39	0.22231	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.387817	0.23440	N	0.048152	T	0.62245	0.2412	M	0.79011	2.435	0.31160	N	0.704431	B	0.27068	0.167	B	0.28709	0.093	T	0.64132	-0.6479	10	0.62326	D	0.03	-0.3085	5.9052	0.18992	0.3277:0.0:0.6723:0.0	.	98	P18054	LOX12_HUMAN	H	98	ENSP00000251535:R98H	ENSP00000251535:R98H	R	+	2	0	ALOX12	6841026	0.987000	0.35691	0.988000	0.46212	0.797000	0.45037	1.163000	0.31798	0.625000	0.30304	0.467000	0.42956	CGC			0.706	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219922.2				A	6900302	G	A	6900302	3	1	29	1	0	0	0	0	1	0	0	0	536	1087	38	1	299	1	ALOX12	17	6900302	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		6900302	74294908	62	2019											
NLGN2	57555	broad.mit.edu;mdanderson.org	37	chr17	7311754	7311754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggcgcgagctcaacaaCgagatcctgggccccgtcgt	7	6	14	14	6	1	1	1	0	0	1	3	3	2	1	3	2	4	1	3	2	2	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:7311754C>G	ENST00000302926.2	+	1	253	c.180C>G	c.(178-180)aaC>aaG	p.N60K	NLGN2_ENST00000575301.1_Missense_Mutation_p.N60K|NLGN2_ENST00000572893.1_Intron	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	60					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AGCTCAACAACGAGATCCTGG	0.761																																					p.N60K													.	NLGN2	61		0			c.C180G												8	8	8					17																	7311754		2024	4023	6047	SO:0001583	missense	57555	exon1			CAACAACGAGATC	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.180C>G	17.37:g.7311754C>G	ENSP00000305288:p.Asn60Lys		26	0	0		32	0.09	3	NM_020795	4	0	0	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	c	16.57	3.158871	0.57368	.	.	ENSG00000169992	ENST00000302926	T	0.66638	-0.22	3.34	3.34	0.38264	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	L	0.37507	1.11	0.46499	D	0.999073	P	0.36909	0.573	B	0.40101	0.319	T	0.58934	-0.7548	10	0.34782	T	0.22	.	13.0103	0.58727	0.0:1.0:0.0:0.0	.	60	Q8NFZ4	NLGN2_HUMAN	K	60	ENSP00000305288:N60K	ENSP00000305288:N60K	N	+	3	2	NLGN2	7252478	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.592000	0.23984	2.198000	0.70561	0.436000	0.28706	AAC			0.761	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226941.2		NM_020795		G	7311754	C	G	7311754	3	3	29	1	0	0	0	0	1	0	0	0	10479	535	19	5	182	5	NLGN2	17	7311754	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	411452	7311754	73883456	63	2020											
SENP3	26168	broad.mit.edu	37	chr17	7466636	7466636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagaggaggaagaagaGgaggaggaggaggatgaaga	18	2	21	0	0	0	6	0	2	0	4	0	13	0	13	0	7	0	0	0	7	4	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:7466636G>A	ENST00000429205.2	+	2	292	c.243G>A	c.(241-243)gaG>gaA	p.E81E	SENP3_ENST00000321337.7_Silent_p.E81E|SENP3_ENST00000578868.1_3'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	81	Glu-rich.					cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				aggaagaagaggaggaggagg	0.622																																					p.E81E													.	SENP3	18		0			c.G243A																																									SO:0001819	synonymous_variant	26168	exon2			AGAAGAGGAGGAG	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.243G>A	17.37:g.7466636G>A			69	0	0		91	0.04	4	NM_015670	76	0	0	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Silent	SNP	ENST00000429205.2	37																																																																																						0.622	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015670		A	7466636	G	A	7466636	2	1	29	1	0	0	0	0	0	0	0	1	14071	991	35	3		3	SENP3	17	7466636	Silent	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	154882	7466636	73728574	64	2021											
KSR1	8844	mdanderson.org	37	chr17	25904572	25904572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagatgaatgaggccaagGtgaaggagacgctgcggcgc	11	5	18	7	3	0	5	0	3	0	2	0	7	0	5	1	5	1	1	1	5	3	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:25904572G>T	ENST00000319524.6	+	3	427	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	KSR1_ENST00000398988.3_Missense_Mutation_p.V6L|KSR1_ENST00000268763.6_Missense_Mutation_p.V6L|KSR1_ENST00000509603.2_Missense_Mutation_p.V143L			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	143					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)		TGAGGCCAAGGTGAAGGAGAC	0.652																																					p.V6L	Esophageal Squamous(88;1120 1336 6324 10502 16832)												.	.			0			c.G16T												32	42	39					17																	25904572		2140	4231	6371	SO:0001583	missense	8844	exon4			GCCAAGGTGAAGG	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.427G>T	17.37:g.25904572G>T	ENSP00000323178:p.Val143Leu		31	0	0		33	0.09	3	NM_014238	15	0	0	F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37		.	.	.	.	.	.	.	.	.	.	G	18.12	3.553411	0.65425	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982;ENST00000398985	T;T;T	0.00463	7.25;7.25;7.25	4.71	3.66	0.41972	.	0.194738	0.43747	D	0.000528	T	0.00468	0.0015	N	0.24115	0.695	0.38709	D	0.953187	B;D	0.52996	0.004;0.957	B;P	0.50490	0.013;0.642	D	0.91698	0.5371	10	0.34782	T	0.22	.	13.6963	0.62582	0.0:0.1553:0.8447:0.0	.	141;24	Q8IVT5;Q6ZNT2	KSR1_HUMAN;.	L	143;143;6;6;24	ENSP00000323178:V143L;ENSP00000438795:V143L;ENSP00000268763:V6L	ENSP00000268763:V6L	V	+	1	0	KSR1	22928699	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.892000	0.63193	2.316000	0.78162	0.591000	0.81541	GTG			0.652	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_014238		T	25904572	G	T	25904572	3	4	29	1	0	0	0	0	1	0	0	0	8596	1261	44	3	18	3	KSR1	17	25904572	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	18437936	25904572	55290638	65	2022											
NOS2	4843	mdanderson.org	37	chr17	26089845	26089845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtgtggtaggtgaccaCggccacagtcaggtggatct	7	9	16	9	2	2	1	1	1	1	0	3	2	2	2	2	6	0	1	2	6	1	1	rs373770638		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:26089845C>T	ENST00000313735.6	-	22	3012	c.2779G>A	c.(2779-2781)Gtg>Atg	p.V927M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	927	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TAGGTGACCACGGCCACAGTC	0.592													.|||	1	0.000199681	8e-04	0	5008	,	,		18130	0		0	False		,,,				2504	0				p.V927M													.	.			0			c.G2779A							C	MET/VAL	2,4326		0,2,2162	16	14	14		2779	4.9	1	17		14	0,8540		0,0,4270	no	missense	NOS2	NM_000625.4	21	0,2,6432	TT,TC,CC		0.0,0.0462,0.0155	probably-damaging	927/1154	26089845	2,12866	2164	4270	6434	SO:0001583	missense	4843	exon22			TGACCACGGCCAC	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2779G>A	17.37:g.26089845C>T	ENSP00000327251:p.Val927Met		43	0	0		36	0.08	3	NM_000625	8	0	0	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576725	0.65878	4.62E-4	0.0	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.77620	-1.11	4.9	4.9	0.64082	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.147815	0.44097	D	0.000499	D	0.90758	0.7099	M	0.93720	3.45	0.58432	D	0.999999	D	0.65815	0.995	D	0.68621	0.959	D	0.93241	0.6626	10	0.72032	D	0.01	.	17.1214	0.86702	0.0:1.0:0.0:0.0	.	927	P35228	NOS2_HUMAN	M	927;888	ENSP00000327251:V927M	ENSP00000327251:V927M	V	-	1	0	NOS2	23113972	1.000000	0.71417	0.996000	0.52242	0.239000	0.25481	4.837000	0.62796	2.289000	0.77006	0.456000	0.33151	GTG			0.592	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255597.1		NM_000625		T	26089845	C	T	26089845	3	4	29	1	0	0	0	0	1	0	0	0	10560	536	19	1	706	1	NOS2	17	26089845	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	185273	26089845	55105365	66	2023											
GRB7	2886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	37901196	37901196	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgcagtgaagatgagCagagccgcacctgctggctg	8	9	13	11	1	2	4	0	2	2	2	2	4	2	4	2	1	4	5	2	1	1	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:37901196C>T	ENST00000309156.4	+	9	1227	c.970C>T	c.(970-972)Cag>Tag	p.Q324*	GRB7_ENST00000445327.2_Nonsense_Mutation_p.Q347*|GRB7_ENST00000394204.1_Nonsense_Mutation_p.Q324*|GRB7_ENST00000394211.3_Nonsense_Mutation_p.Q324*|GRB7_ENST00000309185.3_Nonsense_Mutation_p.Q324*|GRB7_ENST00000394209.2_Nonsense_Mutation_p.Q324*	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	324	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			TGAAGATGAGCAGAGCCGCAC	0.602																																					p.Q347X													.	.			0			c.C1039T												44	47	46					17																	37901196		2202	4300	6502	SO:0001587	stop_gained	2886	exon9			GATGAGCAGAGCC	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.970C>T	17.37:g.37901196C>T	ENSP00000310771:p.Gln324*		126	0	0		136	0.24	32	NM_001242442	62	0.11	7	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Nonsense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	36	5.733564	0.96865	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	.	.	.	5.02	4.02	0.46733	.	0.161948	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-10.0316	14.9611	0.71158	0.0:0.8562:0.1438:0.0	.	.	.	.	X	324;324;324;324;347;324	.	ENSP00000310771:Q324X	Q	+	1	0	GRB7	35154722	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.769000	0.55303	1.266000	0.44231	0.561000	0.74099	CAG			0.602	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257024.2		NM_005310		T	37901196	C	T	37901196	4	4	29	1	0	0	0	0	0	1	0	0	6774	711	25	2	1000	2	GRB7	17	37901196	Nonsense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	11811351	37901196	43294014	67	2024											
HEXIM2	124790	broad.mit.edu	37	chr17	43246910	43246910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttctctgagacttacgaaCgcttccacaccgagagcctg	10	9	8	14	3	1	2	0	1	1	2	3	5	2	2	3	0	3	1	3	0	2	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:43246910C>G	ENST00000307275.3	+	4	1031	c.595C>G	c.(595-597)Cgc>Ggc	p.R199G	HEXIM2_ENST00000591576.1_Missense_Mutation_p.R199G|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.R199G|RP13-890H12.2_ENST00000589451.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	199					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						GACTTACGAACGCTTCCACAC	0.652																																					p.R199G													.	HEXIM2	19		0			c.C595G												21	16	18					17																	43246910		2191	4288	6479	SO:0001583	missense	124790	exon4			TACGAACGCTTCC	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.595C>G	17.37:g.43246910C>G	ENSP00000302276:p.Arg199Gly		38	0	0		36	0.08	3	NM_144608	38	0.05	2	D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875122	0.33162	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.64	3.64	0.41730	.	0.212991	0.44483	N	0.000446	T	0.60157	0.2247	M	0.75777	2.31	0.38185	D	0.939727	B	0.18013	0.025	B	0.20384	0.029	T	0.64622	-0.6364	9	0.87932	D	0	-16.1517	8.9629	0.35858	0.1683:0.6689:0.1627:0.0	.	199	Q96MH2	HEXI2_HUMAN	G	199	.	ENSP00000302276:R199G	R	+	1	0	HEXIM2	40602693	0.993000	0.37304	0.976000	0.42696	0.070000	0.16714	0.682000	0.25335	1.263000	0.44181	0.561000	0.74099	CGC			0.652	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450181.1		NM_144608		G	43246910	C	G	43246910	3	3	29	1	0	0	0	0	1	0	0	0	7092	536	19	5	601	5	HEXIM2	17	43246910	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	5345714	43246910	37948300	68	2025											
OSBPL7	114881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	45891018	45891018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctgctgtactccagctcctCgcagagccgctgcagagtgt	6	9	12	14	2	0	2	0	0	0	2	3	2	2	2	3	0	5	7	3	0	1	1	rs139618928		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:45891018C>G	ENST00000007414.3	-	15	1725	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	OSBPL7_ENST00000392507.3_Missense_Mutation_p.E512Q	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	512					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TCCAGCTCCTCGCAGAGCCGC	0.627																																					p.E512Q													.	.			0			c.G1534C												47	48	48					17																	45891018		2203	4300	6503	SO:0001583	missense	114881	exon15			GCTCCTCGCAGAG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1534G>C	17.37:g.45891018C>G	ENSP00000007414:p.Glu512Gln		99	0	0		91	0.15	14	NM_145798	14	0.29	4	D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207567	0.95033	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.38077	1.16;1.16	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78671	-0.2113	10	0.87932	D	0	-29.0593	17.4067	0.87475	0.0:1.0:0.0:0.0	.	512	Q9BZF2	OSBL7_HUMAN	Q	512	ENSP00000007414:E512Q;ENSP00000376295:E512Q	ENSP00000007414:E512Q	E	-	1	0	OSBPL7	43246017	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.619000	0.83057	2.385000	0.81259	0.591000	0.81541	GAG			0.627	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441367.1		NM_017731		G	45891018	C	G	45891018	3	3	29	1	0	0	0	0	1	0	0	0	11299	893	31	5	1030	5	OSBPL7	17	45891018	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	2644108	45891018	35304192	69	2026											
CD300A	11314	broad.mit.edu	37	chr17	72469724	72469724	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgggccccgtggggggAtccctgagtgtgcagtgtcc	3	8	19	11	2	0	1	0	1	0	0	2	2	2	2	4	5	1	1	4	5	0	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:72469724A>G	ENST00000360141.3	+	2	378	c.90A>G	c.(88-90)ggA>ggG	p.G30G	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	30	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCGTGGGGGGATCCCTGAGTG	0.542																																					p.G30G													.	CD300A	40		0			c.A90G												73	75	74					17																	72469724		2203	4300	6503	SO:0001819	synonymous_variant	11314	exon2			GGGGGGATCCCTG	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.90A>G	17.37:g.72469724A>G			71	0.2112676056	15		62	0.31	19	NM_007261	14	0.21	3	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Silent	SNP	ENST00000360141.3	37	CCDS32720.1																																																																																					0.542	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000145091.1		NM_007261		G	72469724	A	G	72469724	2	3	29	1	0	0	0	0	0	0	0	1	2998	320	12	4		4	CD300A	17	72469724	Silent	SNP	A	TCGA-2G-AAGG-01A-11D-A42Y-10	26578706	72469724	8725486	70	2027											
NARF	26502	mdanderson.org	37	chr17	80436760	80436760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccccccagcaggtcatggGctctttggtgaaggattatt	7	12	12	10	0	2	1	1	1	1	0	3	2	3	2	3	4	1	2	3	4	2	3	rs557074887		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr17:80436760G>A	ENST00000309794.11	+	6	803	c.605G>A	c.(604-606)gGc>gAc	p.G202D	NARF_ENST00000412079.2_Missense_Mutation_p.G74D|NARF_ENST00000457415.3_Missense_Mutation_p.G202D|NARF_ENST00000345415.7_Missense_Mutation_p.G154D|NARF_ENST00000581743.1_3'UTR|RP13-991F5.2_ENST00000582249.1_RNA|NARF_ENST00000390006.4_Missense_Mutation_p.G143D	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	202						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGTCATGGGCTCTTTGGTG	0.642																																					p.G202D													.	.			0			c.G605A												44	42	43					17																	80436760		2203	4300	6503	SO:0001583	missense	26502	exon6			TCATGGGCTCTTT	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.605G>A	17.37:g.80436760G>A	ENSP00000309899:p.Gly202Asp		47	0.0212765957	1		24	0.13	3	NM_012336	82	0	0	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299708	0.60195	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415;ENST00000412079;ENST00000457415	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.57	5.57	0.84162	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.998;0.991;0.984;0.998;0.99	D	0.88482	0.3069	10	0.87932	D	0	-24.0534	18.529	0.90984	0.0:0.0:1.0:0.0	.	74;157;202;154;202;202	B4DZZ6;B4DND8;Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;.;.;NARF_HUMAN	D	143;202;202;154;74;157	ENSP00000374656:G143D;ENSP00000363739:G202D;ENSP00000309899:G202D;ENSP00000283996:G154D;ENSP00000409710:G74D	ENSP00000309899:G202D	G	+	2	0	NARF	78030049	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.195000	0.94971	2.635000	0.89317	0.561000	0.74099	GGC			0.642	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443573.2		NM_031968		A	80436760	G	A	80436760	3	1	29	1	0	0	0	0	1	0	0	0	10183	1203	42	2	627	2	NARF	17	80436760	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	7967036	80436760	758450	71	2028											
KCTD1	284252	mdanderson.org	37	chr18	24127920	24127920	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatggtctcgaagtccGggctctgcgccttctcgctc	3	12	11	15	4	3	0	0	0	3	0	8	1	5	0	3	2	1	2	3	2	1	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr18:24127920G>T	ENST00000408011.3	-	1	545				KCTD1_ENST00000417602.1_Missense_Mutation_p.P194Q|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000317932.7_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTCGAAGTCCGGGCTCTGCGC	0.692																																					p.P194Q													.	.			0			c.C581A												45	48	47					18																	24127920		692	1591	2283	SO:0001627	intron_variant	284252	exon1			AAGTCCGGGCTCT	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+934C>A	18.37:g.24127920G>T			28	0	0		21	0.14	3	NM_001142730	5	0	0	A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310928	0.60414	.	.	ENSG00000134504	ENST00000417602	T	0.78003	-1.14	4.36	4.36	0.52297	.	.	.	.	.	D	0.84602	0.5508	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86199	0.1617	6	0.54805	T	0.06	.	15.476	0.75481	0.0:0.0:1.0:0.0	.	.	.	.	Q	194	ENSP00000408405:P194Q	ENSP00000408405:P194Q	P	-	2	0	KCTD1	22381918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.666000	0.91149	1.978000	0.57642	0.563000	0.77884	CCG			0.692	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000446265.1		XM_209091		T	24127920	G	T	24127920	1	4	29	0	1	0	0	0	0	0	0	0	8111	1116	39	1		1	KCTD1	18	24127920	Intron	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		24127920	53949328	72	2029											
GALNT1	2589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	33263468	33263468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagattaaaaggagctgctGtgtctaaaggccaagtgatc	13	10	11	7	0	1	2	0	1	1	1	2	3	1	3	1	2	2	2	1	2	6	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr18:33263468G>T	ENST00000269195.5	+	4	698	c.595G>T	c.(595-597)Gtg>Ttg	p.V199L	GALNT1_ENST00000537549.1_Missense_Mutation_p.V139L	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	199	Catalytic subdomain A.				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)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						AGGAGCTGCTGTGTCTAAAGG	0.438																																					p.V199L													.	.			0			c.G595T												115	106	109					18																	33263468		2203	4300	6503	SO:0001583	missense	2589	exon4			GCTGCTGTGTCTA		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.595G>T	18.37:g.33263468G>T	ENSP00000269195:p.Val199Leu		102	0	0		64	0.33	21	NM_020474	99	0.4	40	Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407203	0.25378	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.59906	0.23;0.23	5.02	5.02	0.67125	Glycosyl transferase, family 2 (1);	0.308092	0.35708	N	0.003024	T	0.44456	0.1294	L	0.31578	0.945	0.35544	D	0.803269	B	0.02656	0.0	B	0.01281	0.0	T	0.47262	-0.9131	10	0.11485	T	0.65	.	16.1969	0.82036	0.0:0.0:1.0:0.0	.	199	Q10472	GALT1_HUMAN	L	199;199;139	ENSP00000269195:V199L;ENSP00000440910:V139L	ENSP00000269195:V199L	V	+	1	0	GALNT1	31517466	0.953000	0.32496	1.000000	0.80357	0.988000	0.76386	3.134000	0.50538	2.473000	0.83533	0.591000	0.81541	GTG			0.438	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255771.2		NM_020474		T	33263468	G	T	33263468	3	4	29	1	0	0	0	0	1	0	0	0	6221	1377	48	3	609	3	GALNT1	18	33263468	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	9135548	33263468	44813780	73	2030											
KIAA1632	57724	mdanderson.org	37	chr18	43481039	43481039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactcaatagcacagcagagGaaataactggcacaggaggc	16	4	12	9	0	1	1	1	0	0	1	1	4	1	3	0	4	3	3	0	4	4	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr18:43481039G>T	ENST00000282041.5	-	26	4602	c.4568C>A	c.(4567-4569)tCc>tAc	p.S1523Y	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1523					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						CACAGCAGAGGAAATAACTGG	0.547																																					p.S1523Y													.	.			0			c.C4568A												70	76	74					18																	43481039		2077	4208	6285	SO:0001583	missense	57724	exon26			GCAGAGGAAATAA	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.4568C>A	18.37:g.43481039G>T	ENSP00000282041:p.Ser1523Tyr		60	0	0		46	0.07	3	NM_020964	5	0	0	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304658	0.40795	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10763	2.84	5.59	3.75	0.43078	.	.	.	.	.	T	0.16257	0.0391	L	0.34521	1.04	0.26993	N	0.965094	P	0.52692	0.955	P	0.54312	0.748	T	0.05533	-1.0879	9	0.59425	D	0.04	-0.3782	10.8118	0.46551	0.0683:0.0:0.8006:0.1311	.	1523	Q9HCE0	EPG5_HUMAN	Y	1523;398	ENSP00000282041:S1523Y	ENSP00000282041:S1523Y	S	-	2	0	EPG5	41735037	1.000000	0.71417	0.023000	0.16930	0.013000	0.08279	4.811000	0.62606	0.666000	0.31087	0.563000	0.77884	TCC			0.547	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445081.1		NM_020964		T	43481039	G	T	43481039	3	4	29	1	0	0	0	0	1	0	0	0	8264	1174	41	3	3247	3	KIAA1632	18	43481039	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	10217571	43481039	34596209	74	2031											
ZCCHC2	54877	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	60191501	60191501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accagcgggtcaccctgaggGaacacttggagaggctccgc	9	5	14	13	2	1	2	1	1	0	1	2	4	2	3	3	4	2	1	3	4	1	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr18:60191501G>A	ENST00000269499.5	+	1	1262	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K		NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	282						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CACCCTGAGGGAACACTTGGA	0.701																																					p.E282K													.	.			0			c.G844A												9	12	11					18																	60191501		690	1591	2281	SO:0001583	missense	54877	exon1			CTGAGGGAACACT	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.844G>A	18.37:g.60191501G>A	ENSP00000269499:p.Glu282Lys		53	0	0		41	0.41	17	NM_017742	5	0.4	2	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266508	0.59540	.	.	ENSG00000141664	ENST00000269499	T	0.03635	3.86	4.21	4.21	0.49690	.	0.000000	0.51477	D	0.000085	T	0.09158	0.0226	L	0.38531	1.155	0.80722	D	1	D	0.67145	0.996	P	0.57620	0.824	T	0.25745	-1.0123	10	0.45353	T	0.12	-13.9615	16.5805	0.84713	0.0:0.0:1.0:0.0	.	282	Q9C0B9	ZCHC2_HUMAN	K	282	ENSP00000269499:E282K	ENSP00000269499:E282K	E	+	1	0	ZCCHC2	58342481	1.000000	0.71417	0.999000	0.59377	0.109000	0.19521	5.305000	0.65750	1.875000	0.54330	0.555000	0.69702	GAA			0.701	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000450083.1		NM_017742		A	60191501	G	A	60191501	3	1	29	1	0	0	0	0	1	0	0	0	17610	1175	41	3	846	3	ZCCHC2	18	60191501	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	16710462	60191501	17885747	75	2032											
HMHA1	23526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1073680	1073680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggccctgcagagtgtccGagttcctcatgggtgaagtg	6	10	15	10	1	1	2	1	1	0	1	3	3	3	2	3	2	1	3	3	2	1	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr19:1073680G>A	ENST00000313093.2	+	5	889	c.658G>A	c.(658-660)Gag>Aag	p.E220K	HMHA1_ENST00000543365.1_Missense_Mutation_p.E103K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E247K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E224K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E60K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E236K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	220					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CAGAGTGTCCGAGTTCCTCAT	0.672																																					p.E236K													.	.			0			c.G706A												52	48	49					19																	1073680		2202	4300	6502	SO:0001583	missense	23526	exon5			GTGTCCGAGTTCC	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.658G>A	19.37:g.1073680G>A	ENSP00000316772:p.Glu220Lys		41	0	0		38	0.24	9	NM_001258328	27	0	0	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912541	0.92178	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.32272	1.52;1.52;1.57;1.46	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.79926	2.475	0.53688	D	0.999973	D;D;D;D	0.89917	1.0;0.995;1.0;0.991	D;P;D;P	0.87578	0.998;0.807;0.997;0.646	T	0.64706	-0.6344	10	0.62326	D	0.03	-31.309	15.1871	0.73012	0.0:0.0:1.0:0.0	.	60;236;103;220	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	K	236;220;220;60;214;103	ENSP00000439601:E236K;ENSP00000316772:E220K;ENSP00000445109:E60K;ENSP00000438979:E103K	ENSP00000316772:E220K	E	+	1	0	HMHA1	1024680	1.000000	0.71417	0.991000	0.47740	0.832000	0.47134	7.363000	0.79516	1.892000	0.54788	0.491000	0.48974	GAG			0.672	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458026.1				A	1073680	G	A	1073680	3	1	29	1	0	0	0	0	1	0	0	0	7255	1059	37	1	676	1	HMHA1	19	1073680	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10		1073680	58055303	76	2033											
BTBD2	55643	mdanderson.org	37	chr19	1990038	1990038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatggtcatgagcgggaagCgaatgaggcccagggccttg	9	6	17	9	3	1	2	1	2	0	0	1	5	1	3	2	4	2	0	2	4	2	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr19:1990038C>T	ENST00000255608.4	-	5	969	c.953G>A	c.(952-954)cGc>cAc	p.R318H	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	318						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)		GAGCGGGAAGCGAATGAGGCC	0.647																																					p.R318H													.	.			0			c.G953A												54	49	51					19																	1990038		2203	4300	6503	SO:0001583	missense	55643	exon5			GGGAAGCGAATGA	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.953G>A	19.37:g.1990038C>T	ENSP00000255608:p.Arg318His		48	0	0		40	0.08	3	NM_017797	210	0	0	O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077701	0.94000	.	.	ENSG00000133243	ENST00000255608	T	0.80738	-1.41	4.34	4.34	0.51931	BTB/Kelch-associated (2);	0.053096	0.85682	D	0.000000	D	0.91486	0.7312	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93577	0.6909	10	0.87932	D	0	-24.9994	16.0152	0.80434	0.0:1.0:0.0:0.0	.	318	Q9BX70	BTBD2_HUMAN	H	318	ENSP00000255608:R318H	ENSP00000255608:R318H	R	-	2	0	BTBD2	1941038	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	7.484000	0.81180	2.257000	0.74773	0.549000	0.68633	CGC			0.647	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449300.2				T	1990038	C	T	1990038	3	4	29	1	0	0	0	0	1	0	0	0	1545	768	27	1	644	1	BTBD2	19	1990038	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	916358	1990038	57138945	77	2034											
ZFR2	23217	mdanderson.org	37	chr19	3831705	3831705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagggcggggggtaggagGtcacgatggaagctgacgac	10	4	21	6	3	1	1	1	1	0	0	1	6	1	4	0	8	1	2	0	8	2	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr19:3831705G>T	ENST00000262961.4	-	4	561	c.551C>A	c.(550-552)aCc>aAc	p.T184N	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	184							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)		GGGGTAGGAGGTCACGATGGA	0.652																																					p.T184N													.	.			0			c.C551A												22	26	24					19																	3831705		2132	4232	6364	SO:0001583	missense	23217	exon4			TAGGAGGTCACGA	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.551C>A	19.37:g.3831705G>T	ENSP00000262961:p.Thr184Asn		28	0	0		21	0.14	3	NM_015174	0		0		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319712	0.41096	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.15139	3.21;2.45	2.75	2.75	0.32379	.	0.512562	0.18506	U	0.139201	T	0.11024	0.0269	L	0.29908	0.895	0.80722	D	1	P	0.49783	0.928	B	0.38880	0.284	T	0.08659	-1.0711	10	0.51188	T	0.08	1.0E-4	8.7581	0.34658	0.0:0.0:1.0:0.0	.	184	Q9UPR6	ZFR2_HUMAN	N	184	ENSP00000262961:T184N;ENSP00000388974:T184N	ENSP00000262961:T184N	T	-	2	0	ZFR2	3782705	0.300000	0.24435	0.003000	0.11579	0.065000	0.16274	3.969000	0.56816	1.388000	0.46506	0.555000	0.69702	ACC			0.652	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453648.2		NM_015174		T	3831705	G	T	3831705	3	4	29	1	0	0	0	0	1	0	0	0	17683	1261	44	3	2332	3	ZFR2	19	3831705	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	1841667	3831705	55297278	78	2035											
FCGBP	8857	broad.mit.edu;mdanderson.org	37	chr19	40366368	40366368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccacagccttgaggtcGtctgcggggtcctggttgta	4	10	14	13	3	1	1	0	1	1	0	3	1	2	1	4	4	2	2	4	4	1	3	rs151261300	byFrequency	TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr19:40366368G>C	ENST00000221347.6	-	30	13873	c.13866C>G	c.(13864-13866)gaC>gaG	p.D4622E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4622	VWFD 11. {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)			CCTTGAGGTCGTCTGCGGGGT	0.692													G|||	2	0.000399361	0.0015	0	5008	,	,		12321	0		0	False		,,,				2504	0				p.D4622E													.	FCGBP	416		0			c.C13866G												37	45	42					19																	40366368		2201	4298	6499	SO:0001583	missense	8857	exon30			GAGGTCGTCTGCG	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.13866C>G	19.37:g.40366368G>C	ENSP00000221347:p.Asp4622Glu		46	0	0		40	0.1	4	NM_003890	57	0.19	11	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495648	0.26774	.	.	ENSG00000090920	ENST00000221347	T	0.65364	-0.15	4.32	-0.4	0.12411	von Willebrand factor, type D domain (3);	0.064020	0.64402	D	0.000017	T	0.80380	0.4612	H	0.94306	3.52	0.27141	N	0.961659	D	0.89917	1.0	D	0.77004	0.989	T	0.71500	-0.4574	10	0.72032	D	0.01	.	8.1816	0.31313	0.5805:0.0:0.4195:0.0	.	4622	Q9Y6R7	FCGBP_HUMAN	E	4622	ENSP00000221347:D4622E	ENSP00000221347:D4622E	D	-	3	2	FCGBP	45058208	0.758000	0.28405	0.906000	0.35671	0.056000	0.15407	-0.067000	0.11579	-0.049000	0.13379	-0.698000	0.03680	GAC			0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462507.1		NM_003890		C	40366368	G	C	40366368	3	2	29	1	0	0	0	0	1	0	0	0	5791	1136	40	5	2379	5	FCGBP	19	40366368	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	36534663	40366368	18762615	79	2036											
SPTBN4	57731	broad.mit.edu;mdanderson.org	37	chr19	41081444	41081444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaccctaagagggaaggcgGagatcgcagggccagcgggc	11	2	17	11	3	0	2	0	0	0	2	1	4	0	3	2	5	2	1	2	5	3	1	rs372875932		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr19:41081444G>A	ENST00000352632.3	+	36	7750	c.7664G>A	c.(7663-7665)gGa>gAa	p.G2555E	SHKBP1_ENST00000291842.5_5'Flank|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G1298E|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G2555E|SHKBP1_ENST00000600733.1_5'Flank|SPTBN4_ENST00000593816.1_3'UTR			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2555					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)			AGGGAAGGCGGAGATCGCAGG	0.607																																					p.G2555E													SPTBN4,colon,carcinoma,+1,1	SPTBN4	213	1	0			c.G7664A							G	GLU/GLY	0,4406		0,0,2203	46	35	39		7664	2.3	1	19		39	3,8597	3.0+/-9.4	0,3,4297	no	missense	SPTBN4	NM_020971.2	98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	2555/2565	41081444	3,13003	2203	4300	6503	SO:0001583	missense	57731	exon36			AAGGCGGAGATCG	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.7664G>A	19.37:g.41081444G>A	ENSP00000263373:p.Gly2555Glu		27	0	0		16	0.19	3	NM_020971	6	0.33	2	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	8.150	0.787258	0.16189	0.0	3.49E-4	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.76709	-1.04;0.3	4.65	2.31	0.28768	.	0.423377	0.20877	U	0.084071	T	0.58779	0.2146	N	0.08118	0	0.80722	D	1	B;B	0.27498	0.18;0.079	B;B	0.27170	0.077;0.048	T	0.60924	-0.7166	10	0.72032	D	0.01	.	11.607	0.51037	0.0:0.3423:0.6577:0.0	.	1298;2555	C9JY79;Q9H254	.;SPTN4_HUMAN	E	2555;2555;1298	ENSP00000263373:G2555E;ENSP00000375879:G1298E	ENSP00000263373:G2555E	G	+	2	0	SPTBN4	45773284	0.998000	0.40836	0.951000	0.38953	0.124000	0.20399	1.024000	0.30077	1.059000	0.40554	0.462000	0.41574	GGA			0.607	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462559.2				A	41081444	G	A	41081444	3	1	29	1	0	0	0	0	1	0	0	0	15144	1174	41	3	7896	3	SPTBN4	19	41081444	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	715076	41081444	18047539	80	2037											
EML2	24139	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	46116800	46116800	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccccaagggactcactCgaggctgacagcaggggtag	10	6	13	12	1	2	1	1	1	1	0	4	3	2	2	2	4	1	3	2	4	2	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr19:46116800C>A	ENST00000245925.3	-	18	1873	c.1823G>T	c.(1822-1824)cGa>cTa	p.R608L	EML2_ENST00000587152.1_Splice_Site_p.R809L|EML2_ENST00000589876.1_Splice_Site_p.R608L|EML2_ENST00000536630.1_Splice_Site_p.R755L	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	608	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)	p.R608L(1)		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)		GGGACTCACTCGAGGCTGACA	0.572																																					p.R809L													EML2,NS,carcinoma,0,1	EML2	64	1	1	Substitution - Missense(1)	lung(1)	c.G2426T												95	83	87					19																	46116800		2203	4300	6503	SO:0001630	splice_region_variant	24139	exon21			CTCACTCGAGGCT	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.1824+1G>T	19.37:g.46116800C>A			48	0	0		45	0.11	5	NM_001193268	99	0.07	7	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Splice_Site	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793165	0.90453	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.28255	1.62;2.89	4.75	4.75	0.60458	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.81914	0.965;0.995;0.937	T	0.48281	-0.9049	10	0.28530	T	0.3	-8.8226	15.6448	0.77039	0.0:1.0:0.0:0.0	.	774;755;608	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	L	755;608;766	ENSP00000442365:R755L;ENSP00000245925:R608L	ENSP00000245925:R608L	R	-	2	0	EML2	50808640	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.545000	0.67237	2.653000	0.90120	0.563000	0.77884	CGA			0.572	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459608.1		NM_012155	Missense_Mutation	A	46116800	C	A	46116800	5	1	29	1	0	0	0	0	0	0	1	0	5104	898	31	1	134	1	EML2	19	46116800	Splice_Site	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	5035356	46116800	13012183	81	2038											
GFRA4	64096	broad.mit.edu	37	chr20	3641387	3641400	+	Splice_Site	DEL	CCCGGCCGCGCGTA	CCCGGCCGCGCGTA	-																															acccccgccctcgcccggatCccggccgcgcgtacccacga																								rs574854017|rs556556498	byFrequency	TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	CCCGGCCGCGCGTA	CCCGGCCGCGCGTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr20:3641387_3641400delCCCGGCCGCGCGTA	ENST00000319242.3	-	2	581		c.e2+1		GFRA4_ENST00000290417.2_Splice_Site			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4						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						TCGCCCGGATCCCGGCCGCGCGTACCCACGAGGC	0.748																																					.													.	GFRA4	10		0			.																																									SO:0001630	splice_region_variant	64096	.			CCGGATCCCGGCC	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.581+1TACGCGCGGCCGGG>-	20.37:g.3641387_3641400delCCCGGCCGCGCGTA			9	0	0		10	0.4	4	.	0		0	Q5JT74|Q9H191|Q9H192	Splice_Site	DEL	ENST00000319242.3	37	CCDS13056.1																																																																																					0.748	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000077744.1		NM_145762	Intron	-	3641400	CCCGGCCGCGCGTA	-	3641387	8	5	29	1	0	1	0	1	0	0	1	0	6364	870	30	0		0	GFRA4	20	3641387	Splice_Site	DEL	CCCGGCCGCGCGTA	TCGA-2G-AAGG-01A-11D-A42Y-10		3641387	59384133	82	2039											
PFDN4	5203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	52830954	52830954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaaatttgcacggaataCaagtagaatcacagagctga	19	7	8	7	1	1	3	1	1	0	2	1	4	1	4	0	1	4	3	0	1	7	3			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr20:52830954C>G	ENST00000371419.2	+	2	343	c.89C>G	c.(88-90)aCa>aGa	p.T30R	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	30					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GCACGGAATACAAGTAGAATC	0.269																																					p.T30R													.	.			0			c.C89G												34	32	33					20																	52830954		2203	4295	6498	SO:0001583	missense	5203	exon2			GGAATACAAGTAG	U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"prefoldin 4"			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.89C>G	20.37:g.52830954C>G	ENSP00000360473:p.Thr30Arg		372	0	0		395	0.3	117	NM_002623	97	0.29	28	Q5TD11|Q92779	Missense_Mutation	SNP	ENST00000371419.2	37	CCDS13445.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329918	0.60743	.	.	ENSG00000101132	ENST00000371419	T	0.40476	1.03	4.96	4.01	0.46588	Prefoldin beta-like (1);Prefoldin (1);	0.086809	0.85682	D	0.000000	T	0.38054	0.1026	L	0.54323	1.7	0.58432	D	0.999994	P	0.37594	0.601	B	0.35413	0.202	T	0.32666	-0.9898	10	0.52906	T	0.07	-13.4955	12.6856	0.56946	0.0:0.9193:0.0:0.0807	.	30	Q9NQP4	PFD4_HUMAN	R	30	ENSP00000360473:T30R	ENSP00000360473:T30R	T	+	2	0	PFDN4	52264361	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	4.611000	0.61162	1.211000	0.43351	0.655000	0.94253	ACA			0.269	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079771.2		NM_002623		G	52830954	C	G	52830954	3	3	29	1	0	0	0	0	1	0	0	0	11774	478	17	5	95	5	PFDN4	20	52830954	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	49189567	52830954	10194566	83	2040											
TUBB1	81027	hgsc.bcm.edu;bcgsc.ca	37	chr20	57599434	57599434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtggcctgcattttcCggggcaagatgtccaccaag	9	9	11	12	1	1	1	1	0	0	1	3	1	3	1	4	3	1	2	4	3	2	2	rs121918555		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr20:57599434C>T	ENST00000217133.1	+	4	1221	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	318			R -> W (in MAD-TUBB1; dbSNP:rs121918555). {ECO:0000269|PubMed:18849486}.		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTGCATTTTCCGGGGCAAGAT	0.597													C|||	1	0.000199681	0	0	5008	,	,		19575	0.001		0	False		,,,				2504	0				p.R318W													.	.			0			c.C952T	GRCh37	CM090175	TUBB1	M	rs121918555		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	57	48	51	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	952	5.4	1	20	dbSNP_133	51	0,8600		0,0,4300	no	missense	TUBB1	NM_030773.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	318/452	57599434	1,13005	2203	4300	6503	SO:0001583	missense	81027	exon4			ATTTTCCGGGGCA	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.952C>T	20.37:g.57599434C>T	ENSP00000217133:p.Arg318Trp		43	0	0		69	0.06	4	NM_030773	0		0		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.8	4.055116	0.75960	2.27E-4	0.0	ENSG00000101162	ENST00000217133	D	0.84589	-1.87	5.41	5.41	0.78517	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96549	0.8874	H	0.99977	5.165	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97734	1.0204	9	0.87932	D	0	.	13.743	0.62860	0.1639:0.8361:0.0:0.0	.	318	Q9H4B7	TBB1_HUMAN	W	318	ENSP00000217133:R318W	ENSP00000217133:R318W	R	+	1	2	TUBB1	57032829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.292000	0.51772	2.545000	0.85829	0.561000	0.74099	CGG	0		0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079903.1		NM_030773		T	57599434	C	T	57599434	3	4	29	1	0	0	0	0	1	0	0	0	16777	643	23	1	966	1	TUBB1	20	57599434	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	4768480	57599434	5426086	84	2041											
ZNRF3	84133	mdanderson.org	37	chr22	29446834	29446834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctagggccctactgCggcctggctgccctccggag	4	6	15	16	2	0	0	0	0	0	0	1	1	1	1	5	5	3	2	5	5	2	2	rs375016509	byFrequency	TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr22:29446834C>T	ENST00000544604.2	+	8	2840	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	ZNRF3_ENST00000406323.3_Missense_Mutation_p.R789W|ZNRF3_ENST00000402174.1_Missense_Mutation_p.R789W|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R789W	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	889					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						GGCCCTACTGCGGCCTGGCTG	0.706													C|||	2	0.000399361	0.0015	0	5008	,	,		15339	0		0	False		,,,				2504	0				p.R889W													.	.			0			c.C2665T							C	TRP/ARG,TRP/ARG	2,3864		0,2,1931	10	12	11		2665,2365	-1.9	0	22		11	0,8224		0,0,4112	no	missense,missense	ZNRF3	NM_001206998.1,NM_032173.3	101,101	0,2,6043	TT,TC,CC		0.0,0.0517,0.0165	probably-damaging,probably-damaging	889/937,789/837	29446834	2,12088	1933	4112	6045	SO:0001583	missense	84133	exon8			CTACTGCGGCCTG	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.2665C>T	22.37:g.29446834C>T	ENSP00000443824:p.Arg889Trp		32	0	0		23	0.09	2	NM_001206998	20	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	5.380	0.255273	0.10185	5.17E-4	0.0	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.09073	3.16;3.02;3.02;3.02	4.75	-1.93	0.07594	.	1.143190	0.06746	N	0.779226	T	0.06325	0.0163	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	B	0.44315	0.446	T	0.33471	-0.9867	10	0.66056	D	0.02	4.7171	4.8074	0.13326	0.3229:0.4553:0.0:0.2217	.	889	Q9ULT6	ZNRF3_HUMAN	W	889;789;596;789;789	ENSP00000443824:R889W;ENSP00000328614:R789W;ENSP00000384456:R789W;ENSP00000384553:R789W	ENSP00000328614:R789W	R	+	1	2	ZNRF3	27776834	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.151000	0.10175	-0.246000	0.09611	-0.218000	0.12543	CGG			0.706	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972		T	29446834	C	T	29446834	3	4	29	1	0	0	0	0	1	0	0	0	18236	759	27	1	2391	1	ZNRF3	22	29446834	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10		29446834	21857732	85	2042											
SH3BP1	23616	mdanderson.org	37	chr22	38051389	38051389	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctggcagccctgggaccCcccaagccctgccccgacgt	5	5	11	20	2	1	0	0	0	1	0	1	2	1	1	7	2	3	2	7	2	1	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr22:38051389C>A	ENST00000357436.4	+	18	2117	c.1804C>A	c.(1804-1806)Ccc>Acc	p.P602T	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	602					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCCTGGGACCCCCCAAGCCCT	0.766																																					p.P602T													.	.			0			c.C1804A												2	3	3					22																	38051389		1354	3008	4362	SO:0001583	missense	23616	exon18			GGGACCCCCCAAG		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1804C>A	22.37:g.38051389C>A	ENSP00000350018:p.Pro602Thr		22	0	0		17	0.18	3	NM_018957	45	0	0	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610208	0.66558	.	.	ENSG00000100092	ENST00000357436	T	0.18657	2.2	3.96	3.96	0.45880	.	0.000000	0.44285	U	0.000470	T	0.34077	0.0885	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.05835	-1.0861	9	.	.	.	.	15.7893	0.78343	0.0:1.0:0.0:0.0	.	602	Q9Y3L3	3BP1_HUMAN	T	602	ENSP00000350018:P602T	.	P	+	1	0	SH3BP1	36381335	0.995000	0.38212	0.845000	0.33349	0.934000	0.57294	4.202000	0.58446	2.032000	0.59987	0.448000	0.29417	CCC			0.766	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075884.4		NM_018957		A	38051389	C	A	38051389	3	1	29	1	0	0	0	0	1	0	0	0	14267	623	22	3	1874	3	SH3BP1	22	38051389	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	8604555	38051389	13253177	86	2043											
TTC38	55020	broad.mit.edu	37	chr22	46685729	46685729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgacatttcagagagacGtcttcaaccagctgctgatt	11	12	9	9	1	3	4	2	2	1	2	3	6	3	4	1	0	3	2	1	0	1	4			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr22:46685729G>T	ENST00000381031.3	+	13	1325	c.1249G>T	c.(1249-1251)Gtc>Ttc	p.V417F	TTC38_ENST00000445282.2_Missense_Mutation_p.V359F	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	417						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TCAGAGAGACGTCTTCAACCA	0.627																																					p.V417F													TTC38,NS,carcinoma,0,1	TTC38	40	1	0			c.G1249T												112	125	121					22																	46685729		2107	4223	6330	SO:0001583	missense	55020	exon13			AGAGACGTCTTCA		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.1249G>T	22.37:g.46685729G>T	ENSP00000370419:p.Val417Phe		67	0	0		58	0.05	3	NM_017931	83	0	0	Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696174	0.68386	.	.	ENSG00000075234	ENST00000381031;ENST00000445282	T;T	0.61040	0.14;0.16	4.98	1.68	0.24146	.	0.428647	0.25361	N	0.031226	T	0.53514	0.1801	M	0.72894	2.215	0.54753	D	0.999985	P;D	0.56521	0.936;0.976	P;P	0.45167	0.472;0.472	T	0.54781	-0.8242	10	0.87932	D	0	6.2276	5.0499	0.14503	0.2661:0.1512:0.5827:0.0	.	359;417	E7ES35;Q5R3I4	.;TTC38_HUMAN	F	417;359	ENSP00000370419:V417F;ENSP00000393960:V359F	ENSP00000370419:V417F	V	+	1	0	TTC38	45064393	0.755000	0.28372	0.974000	0.42286	0.956000	0.61745	0.932000	0.28884	0.520000	0.28426	0.655000	0.94253	GTC			0.627	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000318469.1		NM_017931		T	46685729	G	T	46685729	3	4	29	1	0	0	0	0	1	0	0	0	16730	1145	40	1	1299	1	TTC38	22	46685729	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	8634340	46685729	4618837	87	2044											
CELSR1	9620	mdanderson.org	37	chr22	46860176	46860176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggacagtgatgctgttgGtcagcatgtcgtccgtgatg	6	11	16	8	3	1	2	1	2	0	0	3	3	2	3	1	3	2	3	1	3	0	1			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chr22:46860176G>T	ENST00000262738.3	-	2	3610	c.3611C>A	c.(3610-3612)aCc>aAc	p.T1204N	CELSR1_ENST00000395964.1_Missense_Mutation_p.T1204N	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1204	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GATGCTGTTGGTCAGCATGTC	0.602																																					p.T1204N													.	.			0			c.C3611A												101	84	90					22																	46860176		2203	4300	6503	SO:0001583	missense	9620	exon2			CTGTTGGTCAGCA	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3611C>A	22.37:g.46860176G>T	ENSP00000262738:p.Thr1204Asn		82	0	0		37	0.08	3	NM_014246	2	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.63|19.63	3.862996|3.862996	0.71949|0.71949	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|T;T	.|0.67523	.|-0.27;0.03	4.68|4.68	4.68|4.68	0.58851|0.58851	.|Cadherin (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.66297|0.66297	0.2775|0.2775	L|L	0.34521|0.34521	1.04|1.04	0.47276|0.47276	D|D	0.999371|0.999371	.|P	.|0.51449	.|0.945	.|P	.|0.52343	.|0.696	T|T	0.63148|0.63148	-0.6702|-0.6702	5|10	.|0.23891	.|T	.|0.37	.|.	17.2226|17.2226	0.86961|0.86961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1204	.|Q9NYQ6	.|CELR1_HUMAN	T|N	579|1204	.|ENSP00000262738:T1204N;ENSP00000379293:T1204N	.|ENSP00000262738:T1204N	P|T	-|-	1|2	0|0	CELSR1|CELSR1	45238840|45238840	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.057000|9.057000	0.93889|0.93889	2.146000|2.146000	0.66826|0.66826	0.655000|0.655000	0.94253|0.94253	CCA|ACC			0.602	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		T	46860176	G	T	46860176	3	4	29	1	0	0	0	0	1	0	0	0	3223	1261	44	3	5569	3	CELSR1	22	46860176	Missense_Mutation	SNP	G	TCGA-2G-AAGG-01A-11D-A42Y-10	174447	46860176	4444390	88	2045											
TCEANC	170082	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	13681576	13681576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagaggaacacttttcCttcccagctgggtgcggaat	9	11	11	10	1	0	2	0	1	0	1	2	4	2	4	2	3	3	1	2	3	2	4			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chrX:13681576C>T	ENST00000380600.1	+	2	1036	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F	TCEANC_ENST00000314720.4_Missense_Mutation_p.L347F|TCEANC_ENST00000544987.1_Missense_Mutation_p.L317F|TCEANC_ENST00000545566.1_Missense_Mutation_p.L317F|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	317					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)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AACACTTTTCCTTCCCAGCTG	0.423																																					p.L347F													.	.			0			c.C1039T												48	40	42					X																	13681576		1913	4098	6011	SO:0001583	missense	170082	exon4			CTTTTCCTTCCCA		CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.949C>T	X.37:g.13681576C>T	ENSP00000369974:p.Leu317Phe		108	0	0		123	0.1	12	NM_152634	3	0	0	A6NI06|B2RDM3	Missense_Mutation	SNP	ENST00000380600.1	37		.	.	.	.	.	.	.	.	.	.	C	18.63	3.666070	0.67700	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.49720	0.8;0.8;0.77;0.8	5.41	4.54	0.55810	.	0.089400	0.43416	N	0.000580	T	0.60274	0.2256	M	0.68317	2.08	0.44562	D	0.997522	D;D	0.64830	0.994;0.99	P;P	0.56474	0.799;0.484	T	0.65417	-0.6173	10	0.72032	D	0.01	.	13.7411	0.62849	0.0:0.9225:0.0:0.0775	.	347;317	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	F	317;317;347;317	ENSP00000438952:L317F;ENSP00000440038:L317F;ENSP00000313886:L347F;ENSP00000369974:L317F	ENSP00000313886:L347F	L	+	1	0	TCEANC	13591497	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.260000	0.43267	2.272000	0.75746	0.600000	0.82982	CTT			0.423	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000055796.1		NM_152634		T	13681576	C	T	13681576	3	4	29	1	0	0	0	0	1	0	0	0	15701	681	24	3	1045	3	TCEANC	23	13681576	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10		13681576	141588984	89	2046											
PHEX	5251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	22208575	22208575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggtggtttacaaatcCgacgactgtcaatgccttct	10	12	8	11	2	2	0	1	0	1	0	3	2	3	0	2	2	3	1	2	2	4	4			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chrX:22208575C>T	ENST00000379374.4	+	15	2166	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	PHEX_ENST00000537599.1_Missense_Mutation_p.P534L|PHEX_ENST00000535894.1_Missense_Mutation_p.P437L|PHEX_ENST00000418858.3_Missense_Mutation_p.P237L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	534			P -> L (in XLHR). {ECO:0000269|PubMed:9097956, ECO:0000269|PubMed:9199930, ECO:0000269|PubMed:9768674}.		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						TTTACAAATCCGACGACTGTC	0.443																																					p.P534L													.	.			0			c.C1601T	GRCh37	CM971163	PHEX	M								183	154	164					X																	22208575		2203	4300	6503	SO:0001583	missense	5251	exon15			CAAATCCGACGAC	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.1601C>T	X.37:g.22208575C>T	ENSP00000368682:p.Pro534Leu		67	0	0		80	0.26	21	NM_000444	3	0.33	1	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	c	18.24	3.581345	0.65992	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.25	5.25	0.73442	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91825	0.7413	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93055	0.6469	10	0.87932	D	0	.	14.6117	0.68519	0.0:1.0:0.0:0.0	.	534;534	F5GXU4;P78562	.;PHEX_HUMAN	L	534;534;437;237	ENSP00000368682:P534L;ENSP00000440362:P534L;ENSP00000439418:P437L;ENSP00000443531:P237L	ENSP00000368682:P534L	P	+	2	0	PHEX	22118496	1.000000	0.71417	0.977000	0.42913	0.516000	0.34256	5.672000	0.68102	2.427000	0.82271	0.540000	0.68198	CCG			0.443	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056035.1		NM_000444		T	22208575	C	T	22208575	3	4	29	1	0	0	0	0	1	0	0	0	11836	652	23	1	1659	1	PHEX	23	22208575	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	8526999	22208575	133061985	90	2047											
ZNF630	57232	broad.mit.edu	37	chrX	47919586	47919586	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagattcaaggcctttcActctgtctgaaggaagaaga	13	9	12	7	0	4	4	2	1	2	3	4	6	4	6	1	3	0	0	1	3	5	2			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chrX:47919586A>T	ENST00000409324.3	-	5	471	c.245T>A	c.(244-246)gTg>gAg	p.V82E	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000442455.3_Missense_Mutation_p.V68E	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	82					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						AAGGCCTTTCACTCTGTCTGA	0.408																																					p.V82E													.	ZNF630	71		0			c.T245A												36	23	27					X																	47919586		690	1585	2275	SO:0001583	missense	57232	exon5			CCTTTCACTCTGT	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.245T>A	X.37:g.47919586A>T	ENSP00000386393:p.Val82Glu		37	0	0		66	0.17	11	NM_001037735	3	0	0	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.626471	0.00813	.	.	ENSG00000221994	ENST00000442455;ENST00000409324;ENST00000428686	T;T;T	0.05258	3.47;3.53;5.53	1.93	0.647	0.17796	.	.	.	.	.	T	0.01765	0.0056	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46261	-0.9204	9	0.02654	T	1	.	3.744	0.08541	0.3488:0.0:0.0:0.6512	.	82	Q2M218	ZN630_HUMAN	E	68;82;82	ENSP00000393163:V68E;ENSP00000386393:V82E;ENSP00000407278:V82E	ENSP00000386393:V82E	V	-	2	0	ZNF630	47804530	0.000000	0.05858	0.003000	0.11579	0.424000	0.31475	-0.107000	0.10873	0.113000	0.18004	-0.946000	0.02672	GTG			0.408	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327254.1		NM_001037735		T	47919586	A	T	47919586	3	4	29	1	0	0	0	0	1	0	0	0	18077	159	6	5	1732	5	ZNF630	23	47919586	Missense_Mutation	SNP	A	TCGA-2G-AAGG-01A-11D-A42Y-10	25711011	47919586	107350974	91	2048											
GATA1	2623	broad.mit.edu	37	chrX	48652265	48652265	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccgcaaggcatctggaaaAgggaaaaagaaacggggctc	17	3	13	8	2	1	1	0	0	1	1	2	3	1	3	1	5	2	3	1	5	7	0			TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chrX:48652265A>G	ENST00000376670.3	+	6	1047	c.936A>G	c.(934-936)aaA>aaG	p.K312K	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	312					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CATCTGGAAAAGGGAAAAAGA	0.592			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																p.K312K	Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	GATA1	342		0			c.A936G												33	30	31					X																	48652265		2203	4299	6502	SO:0001819	synonymous_variant	2623	exon6			TGGAAAAGGGAAA	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.936A>G	X.37:g.48652265A>G			105	0.0095238095	1		134	0.02	3	NM_002049	1	0	0	Q96GB8	Silent	SNP	ENST00000376670.3	37	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	a	9.200	1.028202	0.19512	.	.	ENSG00000102145	ENST00000447551	D	0.99557	-6.16	3.94	2.73	0.32206	.	0.073027	0.52532	U	0.000069	D	0.98349	0.9452	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.96805	0.9592	7	0.21540	T	0.41	-7.1876	5.0415	0.14462	0.7489:0.0:0.2511:0.0	.	.	.	.	R	77	ENSP00000404985:K77R	ENSP00000404985:K77R	K	+	2	0	GATA1	48537209	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.019000	0.41001	1.459000	0.47892	0.299000	0.19835	AAG			0.592	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056517.1		NM_002049		G	48652265	A	G	48652265	2	3	29	1	0	0	0	0	0	0	0	1	6267	69	3	4		4	GATA1	23	48652265	Silent	SNP	A	TCGA-2G-AAGG-01A-11D-A42Y-10	732679	48652265	106618295	92	2049											
SLC25A14	9016	broad.mit.edu	37	chrX	129474305	129474305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaagggtgaagtttgcaaCggcggccgtgattgtaagcg	9	10	15	7	4	1	2	0	2	1	0	1	2	1	2	1	3	3	3	1	3	4	4	rs371552768		TCGA-2G-AAGG-01A-11D-A42Y-10	TCGA-2G-AAGG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e9e9eff-4302-47e1-85c1-a85d559e034e	81975a2c-c83e-4008-8209-835296eeeac4	g.chrX:129474305C>T	ENST00000218197.5	+	1	280	c.53C>T	c.(52-54)aCg>aTg	p.T18M	SLC25A14_ENST00000361980.5_Missense_Mutation_p.T18M|SLC25A14_ENST00000339231.3_Missense_Mutation_p.T18M|SLC25A14_ENST00000543953.1_Intron|SLC25A14_ENST00000545805.1_Missense_Mutation_p.T18M|SLC25A14_ENST00000467496.1_3'UTR	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	18					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AAGTTTGCAACGGCGGCCGTG	0.488																																					p.T18M													.	SLC25A14	49		0			c.C53T							C	MET/THR,MET/THR	0,3835		0,0,1632,571	82	86	85		53,53	4.3	1	X		85	1,6727		0,1,2427,1872	no	missense,missense	SLC25A14	NM_003951.2,NM_022810.1	81,81	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging	18/326,18/323	129474305	1,10562	2203	4300	6503	SO:0001583	missense	9016	exon1			TTGCAACGGCGGC	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"Solute carriers"	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.53C>T	X.37:g.129474305C>T	ENSP00000218197:p.Thr18Met		91	0	0		91	0.03	3	NM_022810	1	0	0	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342508	0.61073	0.0	1.49E-4	ENSG00000102078	ENST00000424447;ENST00000545805;ENST00000218197;ENST00000361980;ENST00000339231	T;T;T;D;T	0.82081	-1.24;-1.49;-1.47;-1.57;-1.38	4.31	4.31	0.51392	.	1.035400	0.07592	N	0.922174	D	0.82582	0.5068	N	0.08118	0	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.988	D;P;P	0.75020	0.985;0.706;0.512	T	0.78280	-0.2265	10	0.87932	D	0	-1.1638	11.0968	0.48150	0.0:1.0:0.0:0.0	.	18;18;18	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	M	18	ENSP00000402578:T18M;ENSP00000444642:T18M;ENSP00000218197:T18M;ENSP00000354455:T18M;ENSP00000342797:T18M	ENSP00000218197:T18M	T	+	2	0	SLC25A14	129301986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.014000	0.49590	2.387000	0.81309	0.594000	0.82650	ACG			0.488	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058253.1		NM_022810, NM_003951		T	129474305	C	T	129474305	3	4	29	1	0	0	0	0	1	0	0	0	14499	536	19	1	55	1	SLC25A14	23	129474305	Missense_Mutation	SNP	C	TCGA-2G-AAGG-01A-11D-A42Y-10	80822040	129474305	25796255	93	2050											
PTP4A2	8073	mdanderson.org	37	chr1	32375675	32375675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcatcttcgtacttcattCcacattcaatcaaagcaagt	12	13	4	12	1	4	0	3	0	1	0	6	0	5	0	1	0	3	3	1	0	4	5			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr1:32375675C>A	ENST00000602725.1	-	4	776	c.359G>T	c.(358-360)gGa>gTa	p.G120V	PTP4A2_ENST00000344035.6_Missense_Mutation_p.G120V|PTP4A2_ENST00000356536.3_Intron|PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000457805.2_Missense_Mutation_p.G89V|RP11-84A19.4_ENST00000602889.1_lincRNA			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	120	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				GTACTTCATTCCACATTCAAT	0.378																																					p.G120V													.	.			0			c.G359T												112	96	102					1																	32375675		2203	4300	6503	SO:0001583	missense	8073	exon5			TTCATTCCACATT	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.359G>T	1.37:g.32375675C>A	ENSP00000473259:p.Gly120Val		50	0	0		48	0.06	3	NM_080391	411	0	0	A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Missense_Mutation	SNP	ENST00000602725.1	37	CCDS348.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423451	0.96111	.	.	ENSG00000184007	ENST00000344035;ENST00000457805	D;D	0.83250	-1.7;-1.7	5.53	5.53	0.82687	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	D	0.97208	0.9869	10	0.87932	D	0	-0.4713	19.4216	0.94725	0.0:1.0:0.0:0.0	.	89;120	E9PGJ6;Q12974	.;TP4A2_HUMAN	V	120;89	ENSP00000344909:G120V;ENSP00000409260:G89V	ENSP00000344909:G120V	G	-	2	0	PTP4A2	32148262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.769000	0.95229	0.650000	0.86243	GGA			0.378	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000468092.1		NM_080391		A	32375675	C	A	32375675	3	1	30	1	0	0	0	0	1	0	0	0	12792	855	30	3	152	3	PTP4A2	1	32375675	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10		32375675	216874946	1	2051											
FNBP1L	54874	bcgsc.ca	37	chr1	93996313	93996313	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgaccattttgcccctaggCcaaacagcagttgaatctgc	10	10	8	13	1	1	1	0	1	1	0	2	2	1	1	4	1	4	2	4	1	3	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr1:93996313C>T	ENST00000271234.7	+	7	663	c.512C>T	c.(511-513)gCc>gTc	p.A171V	FNBP1L_ENST00000370253.2_Splice_Site_p.A171V|FNBP1L_ENST00000604705.1_Splice_Site_p.A171V|FNBP1L_ENST00000370256.4_Splice_Site_p.A171V|FNBP1L_ENST00000260506.8_Splice_Site_p.A171V	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	171	F-BAR domain. {ECO:0000250}.				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)		TGCCCCTAGGCCAAACAGCAG	0.318																																					p.A171V													.	FNBP1L	56		0			c.C512T												33	31	32					1																	93996313		1826	4092	5918	SO:0001630	splice_region_variant	54874	exon7			CCTAGGCCAAACA		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.511-1C>T	1.37:g.93996313C>T			591	0.0016920474	1		626	0	1	NM_001164473	31	0	0	J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480139	0.63849	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.07	5.07	0.68467	.	0.097197	0.64402	D	0.000001	T	0.12008	0.0292	L	0.51422	1.61	0.80722	D	1	B;P	0.44380	0.2;0.834	B;B	0.38020	0.026;0.263	T	0.06698	-1.0812	10	0.22706	T	0.39	-15.4086	18.7964	0.91995	0.0:1.0:0.0:0.0	.	171;171	Q5T0N5-4;Q5T0N5-3	.;.	V	171;171;171;171;38	ENSP00000359278:A171V;ENSP00000271234:A171V;ENSP00000260506:A171V;ENSP00000359275:A171V	ENSP00000260506:A171V	A	+	2	0	FNBP1L	93768901	1.000000	0.71417	0.993000	0.49108	0.660000	0.38997	7.487000	0.81328	2.527000	0.85204	0.655000	0.94253	GCC			0.318	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				NM_017737	Missense_Mutation	T	93996313	C	T	93996313	5	4	30	1	0	0	0	0	0	0	1	0	5979	753	26	2	538	2	FNBP1L	1	93996313	Splice_Site	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	61620638	93996313	155254308	2	2052											
TRIM46	80128	broad.mit.edu	37	chr1	155148054	155148054	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcctccaccccttccAcccgcagcccccgcctctcc	3	7	4	27	2	1	0	0	0	1	0	5	0	4	0	11	0	2	1	11	0	0	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr1:155148054A>C	ENST00000334634.4	+	2	256	c.256A>C	c.(256-258)Acc>Ccc	p.T86P	TRIM46_ENST00000543729.1_Missense_Mutation_p.T93P|TRIM46_ENST00000392451.2_Missense_Mutation_p.T86P|KRTCAP2_ENST00000295682.4_5'Flank|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000368385.4_Missense_Mutation_p.T86P|TRIM46_ENST00000368383.3_Missense_Mutation_p.T86P|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.T63P	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	86						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)			CACCCCTTCCACCCGCAGCCC	0.687																																					p.T86P													.	TRIM46	79		0			c.A256C												38	40	40					1																	155148054		2203	4295	6498	SO:0001583	missense	80128	exon2			CCTTCCACCCGCA		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.256A>C	1.37:g.155148054A>C	ENSP00000334657:p.Thr86Pro		67	0.3134328358	21		128	0.34	44	NM_025058	1	0	0	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.150621	0.57151	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.59502	0.79;0.54;0.73;0.48;0.26;0.3	4.53	4.53	0.55603	Zinc finger, RING-type (1);	0.366034	0.27280	N	0.020087	T	0.47746	0.1462	N	0.25647	0.755	0.80722	D	1	D;P;D;P;P;D	0.69078	0.962;0.937;0.997;0.937;0.937;0.987	P;P;D;P;P;P	0.63597	0.682;0.585;0.916;0.483;0.483;0.827	T	0.48937	-0.8990	10	0.34782	T	0.22	.	10.5646	0.45165	1.0:0.0:0.0:0.0	.	73;86;73;63;86;86	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	P	93;73;86;86;86;63;86	ENSP00000442719:T93P;ENSP00000357369:T86P;ENSP00000376245:T86P;ENSP00000357367:T86P;ENSP00000357366:T63P;ENSP00000334657:T86P	ENSP00000334657:T86P	T	+	1	0	TRIM46	153414678	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.948000	0.56660	1.805000	0.52779	0.528000	0.53228	ACC			0.687	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086728.1		NM_025058		C	155148054	A	C	155148054	3	2	30	1	0	0	0	0	1	0	0	0	16545	159	6	4	262	4	TRIM46	1	155148054	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10	61151741	155148054	94102567	3	2053											
DCAF8	50717	broad.mit.edu	37	chr1	160188742	160188742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcacaggcaggtgagggtggGgctcaagacagtttacctgg	9	7	17	8	0	1	2	1	1	0	1	1	2	1	2	1	6	1	4	1	6	2	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr1:160188742G>T	ENST00000368073.3	-	12	1891	c.1457C>A	c.(1456-1458)cCc>cAc	p.P486H	DCAF8_ENST00000368074.1_Missense_Mutation_p.P486H|DCAF8_ENST00000326837.2_Missense_Mutation_p.P486H|DCAF8_ENST00000556710.1_Missense_Mutation_p.P640H|DCAF8_ENST00000608310.1_Missense_Mutation_p.P640H			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	486					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTGAGGGTGGGGCTCAAGACA	0.507																																					p.P486H													.	DCAF8	64		0			c.C1457A												96	96	96					1																	160188742		2203	4300	6503	SO:0001583	missense	50717	exon12			GGGTGGGGCTCAA	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1457C>A	1.37:g.160188742G>T	ENSP00000357052:p.Pro486His		249	0.0040160643	1		334	0.02	6	NM_015726	143	0	0	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437716	0.83885	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000001	T	0.75443	0.3850	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.79396	-0.1821	10	0.72032	D	0.01	-5.3133	17.2484	0.87034	0.0:0.0:1.0:0.0	.	640;486	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	H	486;486;486;640;467;640	ENSP00000357052:P486H;ENSP00000318227:P486H;ENSP00000357053:P486H;ENSP00000451989:P640H;ENSP00000451235:P640H	ENSP00000318227:P486H	P	-	2	0	RP11-574F21.3;DCAF8	158455366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.694000	0.91293	2.588000	0.87417	0.563000	0.77884	CCC			0.507	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000077402.2		NM_015726		T	160188742	G	T	160188742	3	4	30	1	0	0	0	0	1	0	0	0	4278	1232	43	3	348	3	DCAF8	1	160188742	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	5040688	160188742	89061879	4	2054											
ABL2	27	broad.mit.edu	37	chr1	179198478	179198478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgccccggatcccgcgggGctgaggctgctggagccccg	3	5	17	16	4	0	1	0	1	0	0	1	3	1	3	5	5	3	4	5	5	0	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr1:179198478G>T	ENST00000502732.1	-	1	258	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	ABL2_ENST00000511413.1_Missense_Mutation_p.P19T|ABL2_ENST00000367623.4_Missense_Mutation_p.P19T|ABL2_ENST00000507173.1_Missense_Mutation_p.P19T|ABL2_ENST00000392043.3_Missense_Mutation_p.P19T	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	19	CAP.				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)	ATCCCGCGGGGCTGAGGCTGC	0.736			T	ETV6	AML																																p.P19T				Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	.	ABL2	307		0			c.C55A												5	7	6					1																	179198478		2097	4097	6194	SO:0001583	missense	27	exon1			CGCGGGGCTGAGG	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.55C>A	1.37:g.179198478G>T	ENSP00000427562:p.Pro19Thr		82	0.0243902439	2		112	0.07	8	NM_001168238	1	0	0	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360684	0.61403	.	.	ENSG00000143322	ENST00000502732;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T	0.74421	-0.82;-0.83;-0.79;-0.8;-0.84	3.96	1.76	0.24704	.	.	.	.	.	T	0.55784	0.1942	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.20780	0.048;0.048;0.048;0.009;0.028	B;B;B;B;B	0.19391	0.025;0.005;0.005;0.003;0.011	T	0.39881	-0.9592	9	0.14656	T	0.56	.	9.5389	0.39240	0.0:0.4218:0.5782:0.0	.	19;19;19;19;19	P42684-6;P42684-7;P42684-5;P42684-8;P42684	.;.;.;.;ABL2_HUMAN	T	19	ENSP00000427562:P19T;ENSP00000356595:P19T;ENSP00000423413:P19T;ENSP00000424697:P19T;ENSP00000375897:P19T	ENSP00000356595:P19T	P	-	1	0	ABL2	177465101	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	1.850000	0.39328	0.713000	0.32060	0.205000	0.17691	CCC			0.736	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000085174.3		NM_005158		T	179198478	G	T	179198478	3	4	30	1	0	0	0	0	1	0	0	0	93	1203	42	2	3702	2	ABL2	1	179198478	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	19009736	179198478	70052143	5	2055											
PUM2	23369	broad.mit.edu	37	chr2	20454645	20454645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaatttgtgttgactcAgggctaaaacctttcccctg	9	13	9	10	0	1	1	1	1	0	0	2	1	2	1	3	2	1	3	3	2	3	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:20454645A>G	ENST00000361078.2	-	18	2877	c.2855T>C	c.(2854-2856)cTg>cCg	p.L952P	PUM2_ENST00000319801.5_Missense_Mutation_p.L873P|PUM2_ENST00000536417.1_Missense_Mutation_p.L894P|PUM2_ENST00000403432.1_Missense_Mutation_p.L950P|PUM2_ENST00000338086.5_Missense_Mutation_p.L950P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	952	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				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)					GTGTTGACTCAGGGCTAAAAC	0.363																																					p.L950P													.	PUM2	91		0			c.T2849C												74	72	73					2																	20454645		2203	4300	6503	SO:0001583	missense	23369	exon18			TGACTCAGGGCTA	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.2855T>C	2.37:g.20454645A>G	ENSP00000354370:p.Leu952Pro		229	0.0043668122	1		361	0.01	5	NM_015317	130	0	0	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	A	17.91	3.503870	0.64410	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.66127	0.2758	H	0.96861	3.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.79042	-0.1965	10	0.87932	D	0	-4.3484	15.837	0.78805	1.0:0.0:0.0:0.0	.	894;871;950;952	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	P	950;952;873;762;950;894	ENSP00000338173:L950P;ENSP00000354370:L952P;ENSP00000326746:L873P;ENSP00000409905:L762P;ENSP00000385992:L950P;ENSP00000440093:L894P	ENSP00000326746:L873P	L	-	2	0	PUM2	20318126	1.000000	0.71417	0.999000	0.59377	0.310000	0.27922	9.339000	0.96797	2.140000	0.66376	0.460000	0.39030	CTG			0.363	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015317		G	20454645	A	G	20454645	3	3	30	1	0	0	0	0	1	0	0	0	12849	188	7	4	357	4	PUM2	2	20454645	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10		20454645	222744728	6	2056											
BIRC6	57448	bcgsc.ca	37	chr2	32626436	32626436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagatctgcatatgggatGtttccaaacttatgaaggta	14	12	10	5	0	1	2	0	1	1	1	2	4	2	3	1	2	2	3	1	2	6	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:32626436G>C	ENST00000421745.2	+	7	1374	c.1240G>C	c.(1240-1242)Gtt>Ctt	p.V414L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	414					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)					CATATGGGATGTTTCCAAACT	0.378																																					p.V414L	Pancreas(94;175 1509 16028 18060 45422)												.	BIRC6	838		0			c.G1240C												156	162	160					2																	32626436		2203	4300	6503	SO:0001583	missense	57448	exon7			TGGGATGTTTCCA	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.1240G>C	2.37:g.32626436G>C	ENSP00000393596:p.Val414Leu		131	0	0		184	0	0	NM_016252	13	0	0	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466278	0.63625	.	.	ENSG00000115760	ENST00000421745	T	0.75821	-0.97	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);	0.079718	0.51477	D	0.000089	T	0.69797	0.3151	L	0.43152	1.355	0.54753	D	0.999988	B	0.32302	0.363	B	0.28232	0.087	T	0.70583	-0.4832	10	0.66056	D	0.02	.	19.6727	0.95916	0.0:0.0:1.0:0.0	.	414	Q9NR09	BIRC6_HUMAN	L	414	ENSP00000393596:V414L	ENSP00000393596:V414L	V	+	1	0	BIRC6	32479940	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.912000	0.87465	2.661000	0.90470	0.491000	0.48974	GTT			0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318769.3		NM_016252		C	32626436	G	C	32626436	3	2	30	1	0	0	0	0	1	0	0	0	1438	1377	48	5	1266	5	BIRC6	2	32626436	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	12171791	32626436	210572937	7	2057											
HAAO	23498	broad.mit.edu	37	chr2	43015711	43015711	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtccttcctggtgttgggGcctccgatgaacatgacttt	6	14	11	10	1	0	2	0	2	0	0	3	3	3	2	4	3	1	1	4	3	2	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:43015711G>T	ENST00000294973.6	-	2	172	c.117C>A	c.(115-117)ggC>ggA	p.G39G		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase									p.G39G(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						TGGTGTTGGGGCCTCCGATGA	0.572																																					p.G39G													HAAO,NS,carcinoma,0,1	HAAO	26	1	1	Substitution - coding silent(1)	prostate(1)	c.C117A												231	173	192					2																	43015711		2203	4300	6503	SO:0001819	synonymous_variant	23498	exon2			GTTGGGGCCTCCG	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.117C>A	2.37:g.43015711G>T			143	0.027972028	4		180	0.03	6	NM_012205	27	0	0		Silent	SNP	ENST00000294973.6	37	CCDS33187.1																																																																																					0.572	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325948.2				T	43015711	G	T	43015711	2	4	30	1	0	0	0	0	0	0	0	1	6952	1190	42	2		2	HAAO	2	43015711	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	10389275	43015711	200183662	8	2058											
MSH6	2956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	48026849	48026849	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggtcagttttcagatgAtcgccattgttcgagattta	10	15	9	7	2	2	3	2	1	0	2	4	4	2	3	1	1	0	2	1	1	2	7			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:48026849A>C	ENST00000234420.5	+	4	1879	c.1727A>C	c.(1726-1728)gAt>gCt	p.D576A	MSH6_ENST00000540021.1_Missense_Mutation_p.D446A|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.D274A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	576					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTTCAGATGATCGCCATTGT	0.378			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.D576A			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.			2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	c.A1727C												158	156	157					2																	48026849		2195	4299	6494	SO:0001583	missense	2956	exon4	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	CAGATGATCGCCA	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1727A>C	2.37:g.48026849A>C	ENSP00000234420:p.Asp576Ala		153	0	0		219	0.36	78	NM_000179	261	0.33	85	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639486	0.67244	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.89617	-2.26;-2.39;-2.54	5.04	5.04	0.67666	DNA mismatch repair protein MutS, connector (1);	0.095938	0.64402	D	0.000001	D	0.95294	0.8473	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.96232	0.9169	10	0.87932	D	0	-16.0126	15.0848	0.72142	1.0:0.0:0.0:0.0	.	446;576;576	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	A	576;574;446;274	ENSP00000234420:D576A;ENSP00000446475:D446A;ENSP00000438580:D274A	ENSP00000234420:D576A	D	+	2	0	MSH6	47880353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.217000	0.95160	2.035000	0.60131	0.528000	0.53228	GAT			0.378	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251180.4		NM_000179		C	48026849	A	C	48026849	3	2	30	1	0	0	0	0	1	0	0	0	9890	333	12	4	1741	4	MSH6	2	48026849	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10	5011138	48026849	195172524	9	2059											
FOXN2	3344	broad.mit.edu	37	chr2	48602092	48602092	+	Frame_Shift_Del	DEL	A	A	-																															tcctcttaaaacagcattgcAaaaaaagaggagttacggca																										TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:48602092delA	ENST00000340553.3	+	7	1067	c.806delA	c.(805-807)caafs	p.Q269fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	269					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ACAGCATTGCAAAAAAAGAGG	0.383																																					p.Q269fs													.	FOXN2	39		0			c.806delA												60	56	57					2																	48602092		2203	4300	6503	SO:0001589	frameshift_variant	3344	exon7			CATTGCAAAAAAA		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"Forkhead boxes"	5281	protein-coding gene	gene with protein product		143089	"human T-cell leukemia virus enhancer factor"	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.806delA	2.37:g.48602092delA	ENSP00000343633:p.Gln269fs		471	0	0		533	0.02	8	NM_002158	7	0	0	Q15769|Q6P4Q2	Frame_Shift_Del	DEL	ENST00000340553.3	37	CCDS1838.1																																																																																					0.383	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251240.3		NM_002158		-	48602092	A	-	48602092	7	5	30	1	0	1	0	1	0	0	0	0	6033	130	5	0	824	0	FOXN2	2	48602092	Frame_Shift_Del	DEL	A	TCGA-2G-AAGI-01A-11D-A42Y-10	575243	48602092	194597281	10	2060											
STON1	11037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	48809124	48809124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctgctttgtgaatgggaAcctggaatgctttttaacct	8	15	9	9	0	1	1	0	1	1	0	1	3	1	3	3	2	4	2	3	2	4	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:48809124A>G	ENST00000406226.1	+	3	1547	c.1352A>G	c.(1351-1353)aAc>aGc	p.N451S	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.N451S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.N451S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.N451S|STON1_ENST00000404752.1_Missense_Mutation_p.N451S|STON1_ENST00000309835.3_Missense_Mutation_p.N451S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.N451S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.N451S	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	451	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAATGGGAACCTGGAATGC	0.378																																					p.N451S													.	.			0			c.A1352G												129	134	132					2																	48809124		2203	4300	6503	SO:0001583	missense	11037	exon3			ATGGGAACCTGGA	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1352A>G	2.37:g.48809124A>G	ENSP00000384615:p.Asn451Ser		148	0	0		187	0.24	44	NM_001198595	13	0.15	2	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	6.690	0.496016	0.12762	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.54	0.473	0.16763	Clathrin adaptor, mu subunit, C-terminal (3);	0.714838	0.15423	N	0.263123	T	0.09423	0.0232	N	0.19112	0.55	0.09310	N	1	P;B;P	0.35124	0.473;0.01;0.485	B;B;B	0.37047	0.191;0.022;0.24	T	0.21965	-1.0230	10	0.10377	T	0.69	.	1.572	0.02617	0.42:0.1457:0.3016:0.1327	.	451;451;451	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	S	451	ENSP00000385273:N451S;ENSP00000384615:N451S;ENSP00000310969:N451S;ENSP00000385499:N451S;ENSP00000385701:N451S;ENSP00000378236:N451S;ENSP00000311493:N451S;ENSP00000378234:N451S	ENSP00000310969:N451S	N	+	2	0	STON1-GTF2A1L;STON1	48662628	0.000000	0.05858	0.050000	0.19076	0.984000	0.73092	-0.111000	0.10807	-0.053000	0.13289	0.533000	0.62120	AAC			0.378	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323848.2		NM_006873		G	48809124	A	G	48809124	3	3	30	1	0	0	0	0	1	0	0	0	15339	43	2	4	1354	4	STON1	2	48809124	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10	207032	48809124	194390249	11	2061											
PSME4	23198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	54155274	54155274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcatttactaaagtcatTtggatccaccccaggcaatg	12	11	7	11	0	1	0	1	0	0	0	2	1	2	1	3	2	2	2	3	2	4	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:54155274T>C	ENST00000404125.1	-	11	1538	c.1483A>G	c.(1483-1485)Aat>Gat	p.N495D	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	495					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTAAAGTCATTTGGATCCACC	0.443																																					p.N495D													.	.			0			c.A1483G												118	101	107					2																	54155274		2203	4300	6503	SO:0001583	missense	23198	exon11			AGTCATTTGGATC	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1483A>G	2.37:g.54155274T>C	ENSP00000384211:p.Asn495Asp		169	0	0		168	0.26	44	NM_014614	20	0.35	7	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	T	32	5.120552	0.94385	.	.	ENSG00000068878	ENST00000404125	T	0.04758	3.56	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.03296	-1.1051	10	0.87932	D	0	.	15.9884	0.80179	0.0:0.0:0.0:1.0	.	495	Q14997	PSME4_HUMAN	D	495	ENSP00000384211:N495D	ENSP00000374643:N495D	N	-	1	0	PSME4	54008778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.037000	0.88933	2.172000	0.68678	0.473000	0.43528	AAT			0.443	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324163.1		XM_040158		C	54155274	T	C	54155274	3	2	30	1	0	0	0	0	1	0	0	0	12729	1841	64	4	4192	4	PSME4	2	54155274	Missense_Mutation	SNP	T	TCGA-2G-AAGI-01A-11D-A42Y-10	5346150	54155274	189044099	12	2062											
ZEB2	9839	mdanderson.org	37	chr2	145147444	145147444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaatacctgtgattcatGtgctgcgagtacgagcccga	10	10	12	9	3	1	1	1	1	0	0	1	5	1	2	2	1	5	2	2	1	4	4	rs139944383	byFrequency	TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:145147444G>T	ENST00000558170.2	-	10	4403	c.3219C>A	c.(3217-3219)caC>caA	p.H1073Q	ZEB2_ENST00000303660.4_Missense_Mutation_p.H1073Q|ZEB2_ENST00000409487.3_Missense_Mutation_p.H1073Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.H1049Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1073					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGTGATTCATGTGCTGCGAGT	0.602																																					p.H1073Q	Melanoma(33;1235 1264 5755 16332)												.	.			0			c.C3219A												57	55	56					2																	145147444		2203	4300	6503	SO:0001583	missense	9839	exon10			ATTCATGTGCTGC	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3219C>A	2.37:g.145147444G>T	ENSP00000454157:p.His1073Gln		60	0	0		46	0.07	3	NM_014795	54	0	0	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418135	0.83449	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	D;D;D	0.96168	-3.93;-3.93;-3.93	5.51	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97204	0.9086	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.995	D;D;D	0.91635	0.999;0.979;0.979	D	0.97360	0.9969	10	0.87932	D	0	-12.6368	15.2518	0.73552	0.0707:0.0:0.9293:0.0	.	1049;1072;1073	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	Q	1049;1073;1073	ENSP00000443792:H1049Q;ENSP00000302501:H1073Q;ENSP00000386854:H1073Q	ENSP00000302501:H1073Q	H	-	3	2	ZEB2	144863914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.553000	0.73918	2.746000	0.94184	0.591000	0.81541	CAC			0.602	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254778.5		NM_014795		T	145147444	G	T	145147444	3	4	30	1	0	0	0	0	1	0	0	0	17647	1368	48	3	429	3	ZEB2	2	145147444	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	90992170	145147444	98051929	13	2063											
NEB	4703	mdanderson.org	37	chr2	152359335	152359335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctcttgattgcgtttgActctctccatctctggagtg	5	17	9	10	1	3	2	0	2	3	0	7	3	4	3	1	1	1	2	1	1	0	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:152359335A>G	ENST00000172853.10	-	139	18944	c.18797T>C	c.(18796-18798)gTc>gCc	p.V6266A	NEB_ENST00000509223.2_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.V7967A|NEB_ENST00000498015.2_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.V7967A|NEB_ENST00000604864.1_Missense_Mutation_p.V7967A|NEB_ENST00000603639.1_Missense_Mutation_p.V7967A|NEB_ENST00000397336.2_Missense_Mutation_p.V4A|NEB_ENST00000409198.1_Missense_Mutation_p.V6266A			P20929	NEBU_HUMAN	nebulin	6266					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)		ATTGCGTTTGACTCTCTCCAT	0.348																																					p.V8002A													.	.			0			c.T24005C												73	64	67					2																	152359335		1806	4069	5875	SO:0001583	missense	4703	exon168			CGTTTGACTCTCT	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.18797T>C	2.37:g.152359335A>G	ENSP00000172853:p.Val6266Ala		92	0	0		66	0.05	3	NM_001271208	0		0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.97|11.97	1.796966|1.796966	0.31777|0.31777	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000397336;ENST00000424585	.|T;T;T;T;T;T	.|0.22743	.|1.94;1.94;1.94;1.94;3.77;1.94	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	M|M	0.63428|0.63428	1.95|1.95	0.45415|0.45415	D|D	0.998396|0.998396	.|D;D	.|0.67145	.|0.996;0.995	.|D;D	.|0.85130	.|0.997;0.995	T|T	0.20505|0.20505	-1.0273|-1.0273	5|10	.|0.12103	.|T	.|0.63	.|.	15.7246|15.7246	0.77743|0.77743	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|6266;7967	.|P20929;F8WCL5	.|NEBU_HUMAN;.	P|A	163|6266;7967;7967;6266;4;194	.|ENSP00000386259:V6266A;ENSP00000380505:V7967A;ENSP00000416578:V7967A;ENSP00000172853:V6266A;ENSP00000380497:V4A;ENSP00000404876:V194A	.|ENSP00000172853:V6266A	S|V	-|-	1|2	0|0	NEB|NEB	152067581|152067581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.800000|6.800000	0.75165|0.75165	2.113000|2.113000	0.64589|0.64589	0.528000|0.528000	0.53228|0.53228	TCA|GTC			0.348	NEB-201	KNOWN	basic	protein_coding	protein_coding				NM_004543		G	152359335	A	G	152359335	3	3	30	1	0	0	0	0	1	0	0	0	10319	275	10	4	1741	4	NEB	2	152359335	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10	7211891	152359335	90840038	14	2064											
LRRFIP1	9208	broad.mit.edu	37	chr2	238664755	238664756	+	Frame_Shift_Ins	INS	-	-	C																															aggaatttgaaagggaaaaaINScacgcccacagtatactgca																										TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr2:238664755_238664756insC	ENST00000392000.4	+	9	789_790	c.672_673insC	c.(673-675)cacfs	p.H225fs	LRRFIP1_ENST00000244815.5_Frame_Shift_Ins_p.H201fs|LRRFIP1_ENST00000289175.6_Frame_Shift_Ins_p.H169fs|LRRFIP1_ENST00000308482.9_Frame_Shift_Ins_p.H353fs	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	225					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)		AAAGGGAAAAACACGCCCACAG	0.441																																					p.K352fs													.	LRRFIP1	171		0			c.1056_1057insC																																									SO:0001589	frameshift_variant	9208	exon16			GGAAAAACACGCC	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.673dupC	2.37:g.238664756_238664756dupC	ENSP00000375857:p.His225fs		397	0	0		480	0.02	8	NM_001137550	95	0	0	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Frame_Shift_Ins	INS	ENST00000392000.4	37	CCDS46552.1																																																																																					0.441	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000317198.1		NM_004735		C	238664756	-	C	238664755	7	5	30	1	0	1	1	0	0	0	0	0	9043	40	2	0	1188	0	LRRFIP1	2	238664755	Frame_Shift_Ins	INS	-	TCGA-2G-AAGI-01A-11D-A42Y-10	86305420	238664755	4534618	15	2065											
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	4747945	4747945	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgcagaaaacagccatGaactggcggctctcagcccg	11	7	11	12	2	1	2	1	1	1	1	2	2	1	2	2	2	5	2	2	2	3	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr3:4747945G>T	ENST00000443694.2	+	34	4707	c.4707G>T	c.(4705-4707)atG>atT	p.M1569I	ITPR1_ENST00000423119.2_Missense_Mutation_p.M1575I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.M1560I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M1575I|ITPR1_ENST00000354582.6_Missense_Mutation_p.M1584I|ITPR1_ENST00000302640.8_Missense_Mutation_p.M1569I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1584				AIAIPVDLDSQVNNLFLKSHSIVQK -> HCHSRGPGQPSQ QPLSQVPQHCAE (in Ref. 6; AAD14386). {ECO:0000305}.	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)	AAACAGCCATGAACTGGCGGC	0.557																																					p.M1575I													.	.			0			c.G4725T												51	55	54					3																	4747945		1999	4169	6168	SO:0001583	missense	3708	exon37			AGCCATGAACTGG	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.4707G>T	3.37:g.4747945G>T	ENSP00000401671:p.Met1569Ile		73	0	0		108	0.24	26	NM_001099952	14	0.21	3	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	8.333	0.827011	0.16749	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0	5.26	4.36	0.52297	.	0.208186	0.50627	D	0.000104	T	0.51176	0.1659	L	0.34521	1.04	0.80722	D	1	B;B	0.22909	0.01;0.077	B;B	0.21917	0.013;0.037	T	0.43032	-0.9416	10	0.21014	T	0.42	.	15.8935	0.79318	0.0:0.1359:0.8641:0.0	.	1584;1575	Q14643;G5E9P1	ITPR1_HUMAN;.	I	1584;1569;1584;1575;30;1575;1560;1569	ENSP00000306253:M1569I;ENSP00000346595:M1584I;ENSP00000405934:M1575I;ENSP00000349597:M1575I;ENSP00000397885:M1560I;ENSP00000401671:M1569I	ENSP00000306253:M1569I	M	+	3	0	ITPR1	4722945	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	2.790000	0.47821	1.291000	0.44653	0.655000	0.94253	ATG			0.557	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337982.3		NM_002222		T	4747945	G	T	4747945	3	4	30	1	0	0	0	0	1	0	0	0	7935	1290	45	3	4890	3	ITPR1	3	4747945	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		4747945	193274485	16	2066											
CMTM8	152189	broad.mit.edu	37	chr3	32280541	32280541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagagaacttctccaccaGcagcagcagcttcgcctacg	10	6	9	16	3	1	1	0	0	1	1	3	2	1	1	3	0	6	5	3	0	2	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr3:32280541G>C	ENST00000307526.3	+	1	371	c.77G>C	c.(76-78)aGc>aCc	p.S26T	RP11-384L8.1_ENST00000565519.1_RNA|CMTM8_ENST00000458535.2_Missense_Mutation_p.S26T	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	26					chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TTCTCCACCAGCAGCAGCAGC	0.706																																					p.S26T													.	CMTM8	9		0			c.G77C												29	28	28					3																	32280541		2195	4297	6492	SO:0001583	missense	152189	exon1			CCACCAGCAGCAG	AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"chemokine-like factor super family 8", "chemokine-like factor superfamily 8"	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.77G>C	3.37:g.32280541G>C	ENSP00000307741:p.Ser26Thr		283	0.0070671378	2		301	0.02	6	NM_178868	19	0	0	A5D6I7|Q8IW01	Missense_Mutation	SNP	ENST00000307526.3	37	CCDS2652.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479469	0.26511	.	.	ENSG00000170293	ENST00000458535;ENST00000307526	T	0.31769	1.48	4.68	-1.37	0.09056	.	0.707951	0.12993	N	0.422322	T	0.16257	0.0391	N	0.08118	0	0.23681	N	0.997128	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17531	-1.0366	10	0.14252	T	0.57	-14.9292	18.726	0.91714	0.0:0.6653:0.3347:0.0	.	26;26	A5D6I7;Q8IZV2	.;CKLF8_HUMAN	T	26	ENSP00000307741:S26T	ENSP00000307741:S26T	S	+	2	0	CMTM8	32255545	1.000000	0.71417	0.937000	0.37676	0.953000	0.61014	0.649000	0.24843	0.045000	0.15804	0.462000	0.41574	AGC			0.706	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253253.1		NM_178868		C	32280541	G	C	32280541	3	2	30	1	0	0	0	0	1	0	0	0	3591	971	34	5	79	5	CMTM8	3	32280541	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	27532596	32280541	165741889	17	2067											
SEPSECS	51091	mdanderson.org	37	chr4	25125839	25125839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgcatggacccaagaGgcacaaccctgaaagaagaa	16	5	10	10	0	0	4	0	1	0	3	0	5	0	5	2	2	2	3	2	2	5	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr4:25125839G>T	ENST00000382103.2	-	11	1292	c.1220C>A	c.(1219-1221)cCt>cAt	p.P407H	SEPSECS_ENST00000515272.1_5'Flank|SEPSECS_ENST00000302922.3_Missense_Mutation_p.P328H	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	407					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)				GGACCCAAGAGGCACAACCCT	0.388																																					p.P407H													.	.			0			c.C1220A												73	69	70					4																	25125839		2203	4300	6503	SO:0001583	missense	51091	exon11			CCAAGAGGCACAA	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.1220C>A	4.37:g.25125839G>T	ENSP00000371535:p.Pro407His		58	0	0		51	0.06	3	NM_016955	2	0	0	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085269	0.76642	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.82803	-1.65;-1.65	5.32	4.48	0.54585	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.88149	0.6359	M	0.79475	2.455	0.58432	D	0.999999	D;P;D	0.65815	0.995;0.835;0.971	P;P;P	0.55112	0.769;0.692;0.618	D	0.88911	0.3359	10	0.56958	D	0.05	-25.261	13.8827	0.63691	0.074:0.0:0.926:0.0	.	406;347;407	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	H	328;407	ENSP00000305956:P328H;ENSP00000371535:P407H	ENSP00000305956:P328H	P	-	2	0	SEPSECS	24734937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.181000	0.77682	1.233000	0.43693	0.591000	0.81541	CCT			0.388	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250414.2		NM_016955		T	25125839	G	T	25125839	3	4	30	1	0	0	0	0	1	0	0	0	14081	1000	35	3	289	3	SEPSECS	4	25125839	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		25125839	166028437	18	2068											
KIT	3815	bcgsc.ca	37	chr4	55599338	55599338	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacatcaagaatgattctAattatgtggttaaaggaaac	17	11	9	4	0	2	3	1	1	1	2	2	5	2	4	0	2	1	1	0	2	7	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr4:55599338A>T	ENST00000288135.5	+	17	2561	c.2464A>T	c.(2464-2466)Aat>Tat	p.N822Y		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> K (in a germ cell tumor of the testis; somatic mutation). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N822Y(5)|p.N822H(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAATGATTCTAATTATGTGGT	0.378		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.N822Y			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,malignant_melanoma,0,44	KIT	7396	44	6	Substitution - Missense(6)	genital_tract(2)|testis(1)|haematopoietic_and_lymphoid_tissue(1)|soft_tissue(1)|skin(1)	c.A2464T	GRCh37	CM087050	KIT	M								146	149	148					4																	55599338		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GATTCTAATTATG	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2464A>T	4.37:g.55599338A>T	ENSP00000288135:p.Asn822Tyr		90	0	0		88	0	0	NM_000222	11	0	0	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416486	0.83449	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82255	-1.59;-1.59	5.47	5.47	0.80525	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	0.000009	D	0.85080	0.5615	N	0.20445	0.575	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.92;1.0	D	0.87693	0.2555	10	0.87932	D	0	.	15.5485	0.76129	1.0:0.0:0.0:0.0	.	818;822	P10721-2;P10721	.;KIT_HUMAN	Y	822;818	ENSP00000288135:N822Y;ENSP00000390987:N818Y	ENSP00000288135:N822Y	N	+	1	0	KIT	55294095	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.138000	0.94501	2.084000	0.62774	0.477000	0.44152	AAT			0.378	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55599338	A	T	55599338	3	4	30	1	0	0	0	0	1	0	0	0	8344	362	13	5	2530	5	KIT	4	55599338	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10	30473499	55599338	135554938	19	2069											
YTHDC1	91746	broad.mit.edu	37	chr4	69202914	69202914	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcttcCtcctcctcctcttcctcctc	0	16	0	25	0	2	0	0	0	2	0	14	0	13	0	11	0	0	0	11	0	0	2	rs568654350	byFrequency	TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr4:69202914C>T	ENST00000344157.4	-	4	1049	c.714G>A	c.(712-714)gaG>gaA	p.E238E	YTHDC1_ENST00000579690.1_Silent_p.E238E|YTHDC1_ENST00000355665.3_Silent_p.E238E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	238	Glu-rich.				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						cctcctcttcctcctcctcct	0.478																																					p.E238E													.	YTHDC1	81		0			c.G714A												129	92	104					4																	69202914		2203	4300	6503	SO:0001819	synonymous_variant	91746	exon4			CTCTTCCTCCTCC	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.714G>A	4.37:g.69202914C>T			110	0.0181818182	2		85	0.04	3	NM_001031732	4	0.25	1	Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	37	CCDS33992.1																																																																																					0.478	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251437.1	rescued with RNA-seq	NM_133370		T	69202914	C	T	69202914	2	4	30	1	0	0	0	0	0	0	0	1	17520	680	24	3		3	YTHDC1	4	69202914	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	13603576	69202914	121951362	20	2070											
SLC9A3	6550	mdanderson.org	37	chr5	476743	476743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctccgccgtcgctgcTccagagactgcatgtccagg	6	8	13	14	3	0	1	0	0	0	1	4	3	3	2	4	2	3	4	4	2	0	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr5:476743T>C	ENST00000264938.3	-	12	1814	c.1805A>G	c.(1804-1806)gAg>gGg	p.E602G	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E593G	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	602	Interaction with PDZD3. {ECO:0000250}.				ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCGTCGCTGCTCCAGAGACTG	0.652																																					p.E602G													.	.			0			c.A1805G												61	51	54					5																	476743		2203	4300	6503	SO:0001583	missense	6550	exon12			CGCTGCTCCAGAG		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1805A>G	5.37:g.476743T>C	ENSP00000264938:p.Glu602Gly		53	0	0		28	0.11	3	NM_004174	9	0	0	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725719	0.30593	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.80033	-1.33;-1.33	4.56	4.56	0.56223	.	0.577815	0.18377	N	0.143079	T	0.77512	0.4141	L	0.58302	1.8	0.37945	D	0.932444	B;B	0.26318	0.146;0.022	B;B	0.21708	0.036;0.011	T	0.79315	-0.1854	10	0.72032	D	0.01	.	13.5764	0.61877	0.0:0.0:0.0:1.0	.	593;602	E9PF67;P48764	.;SL9A3_HUMAN	G	602;593	ENSP00000264938:E602G;ENSP00000422983:E593G	ENSP00000264938:E602G	E	-	2	0	SLC9A3	529743	1.000000	0.71417	0.994000	0.49952	0.395000	0.30598	7.036000	0.76524	1.706000	0.51276	0.459000	0.35465	GAG			0.652	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206677.2		NM_004174		C	476743	T	C	476743	3	2	30	1	0	0	0	0	1	0	0	0	14736	1551	54	4	723	4	SLC9A3	5	476743	Missense_Mutation	SNP	T	TCGA-2G-AAGI-01A-11D-A42Y-10		476743	180438517	21	2071											
FBXO4	26272	mdanderson.org	37	chr5	41925427	41925427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagccatggcgggaagcgagCcgcgcagcggaacaaactcg	12	2	15	12	6	0	0	0	0	0	0	1	3	0	2	2	3	6	1	2	3	4	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr5:41925427C>T	ENST00000281623.3	+	1	72	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	FBXO4_ENST00000509134.1_Missense_Mutation_p.P6S|FBXO4_ENST00000296812.2_Missense_Mutation_p.P6S	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	6					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GGGAAGCGAGCCGCGCAGCGG	0.716																																					p.P6S													.	.			0			c.C16T												3	5	4					5																	41925427		1440	2787	4227	SO:0001583	missense	26272	exon1			AGCGAGCCGCGCA	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.16C>T	5.37:g.41925427C>T	ENSP00000281623:p.Pro6Ser		41	0	0		35	0.09	3	NM_033484	9	0	0	Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875627	0.51695	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.71222	-0.55;-0.55;-0.55	4.37	3.46	0.39613	.	0.664997	0.14865	N	0.293880	T	0.53932	0.1827	N	0.19112	0.55	0.27070	N	0.963335	B;B;B	0.20671	0.028;0.028;0.047	B;B;B	0.16289	0.007;0.003;0.015	T	0.50709	-0.8796	10	0.59425	D	0.04	-6.1035	8.9439	0.35747	0.0:0.8882:0.0:0.1118	.	6;6;6	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	S	6	ENSP00000296812:P6S;ENSP00000281623:P6S;ENSP00000421749:P6S	ENSP00000281623:P6S	P	+	1	0	FBXO4	41961184	0.052000	0.20516	0.667000	0.29798	0.810000	0.45777	0.217000	0.17603	1.120000	0.41904	0.563000	0.77884	CCG			0.716	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211614.1				T	41925427	C	T	41925427	3	4	30	1	0	0	0	0	1	0	0	0	5761	739	26	2	18	2	FBXO4	5	41925427	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	41448684	41925427	138989833	22	2072											
NLN	57486	mdanderson.org	37	chr5	65108215	65108215	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagggataatgaatccAgaggtatagtattatttttc	16	13	9	3	0	0	3	0	1	0	2	2	4	1	4	1	2	0	2	1	2	8	7	rs2254485	byFrequency	TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr5:65108215A>T	ENST00000380985.5	+	12	2155	c.1977A>T	c.(1975-1977)ccA>ccT	p.P659P	NLN_ENST00000502464.1_Silent_p.P555P	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	659						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TAATGAATCCAGAGGTATAGT	0.333																																					p.P659P													.	.			0			c.A1977T												75	82	79					5																	65108215		2203	4300	6503	SO:0001819	synonymous_variant	57486	exon12			GAATCCAGAGGTA	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1977A>T	5.37:g.65108215A>T			58	0	0		55	0.05	3	NM_020726	42	0	0	Q9ULJ4	Silent	SNP	ENST00000380985.5	37	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	N	8.287	0.816830	0.16607	.	.	ENSG00000123213	ENST00000509935	.	.	.	5.37	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.087	6.3845	0.21554	0.6947:0.0:0.1929:0.1124	.	.	.	.	X	256	.	.	R	+	1	2	NLN	65143971	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.334000	0.33827	0.141000	0.18875	-1.195000	0.01675	AGA			0.333	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215060.1				T	65108215	A	T	65108215	2	4	30	1	0	0	0	0	0	0	0	1	10484	175	7	5		5	NLN	5	65108215	Silent	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10	23182788	65108215	115807045	23	2073											
HMGCR	3156	broad.mit.edu;mdanderson.org	37	chr5	74651007	74651007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caacagaaggttgtcttgtgGccagcaccaatagaggctgc	11	8	12	10	0	1	2	0	0	1	2	1	2	1	2	2	3	3	3	2	3	4	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr5:74651007G>A	ENST00000287936.4	+	13	1846	c.1690G>A	c.(1690-1692)Gcc>Acc	p.A564T	HMGCR_ENST00000343975.5_Intron|HMGCR_ENST00000511206.1_Missense_Mutation_p.A564T	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	564	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTGTCTTGTGGCCAGCACCAA	0.403																																					p.A564T													.	HMGCR	53		0			c.G1690A												64	61	62					5																	74651007		2203	4300	6503	SO:0001583	missense	3156	exon13			CTTGTGGCCAGCA		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1690G>A	5.37:g.74651007G>A	ENSP00000287936:p.Ala564Thr		162	0	0		160	0.04	6	NM_000859	38	0	0	B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	36	5.837007	0.97009	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936	T;T	0.68765	-0.35;-0.35	6.05	6.05	0.98169	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91070	0.4892	10	0.87932	D	0	-16.1311	20.6087	0.99469	0.0:0.0:1.0:0.0	.	564;564	B2R649;P04035	.;HMDH_HUMAN	T	564;495;564	ENSP00000426745:A564T;ENSP00000287936:A564T	ENSP00000287936:A564T	A	+	1	0	HMGCR	74686763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.828000	0.99408	2.866000	0.98385	0.650000	0.86243	GCC			0.403	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219877.2				A	74651007	G	A	74651007	3	1	30	1	0	0	0	0	1	0	0	0	7246	1203	42	2	1736	2	HMGCR	5	74651007	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	9542792	74651007	106264253	24	2074											
RANBP17	64901	bcgsc.ca	37	chr5	170669748	170669748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcactcaggaccatatGagcttcatcatcaacttaga	12	12	6	11	0	5	2	5	1	1	1	6	3	5	3	1	1	2	1	1	1	3	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr5:170669748G>T	ENST00000523189.1	+	24	2864	c.2700G>T	c.(2698-2700)atG>atT	p.M900I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	900					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGACCATATGAGCTTCATCA	0.428			T	TRD@	ALL																																p.M900I				Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	RANBP17	108		0			c.G2700T												200	177	185					5																	170669748		2203	4300	6503	SO:0001583	missense	64901	exon24			CCATATGAGCTTC	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2700G>T	5.37:g.170669748G>T	ENSP00000427975:p.Met900Ile		152	0	0		147	0.01	1	NM_022897	10	0	0	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287880	0.59976	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.66280	-0.2	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	L	0.31157	0.91	0.58432	D	0.999998	B;B	0.13145	0.007;0.007	B;B	0.19148	0.024;0.024	T	0.44112	-0.9349	10	0.22109	T	0.4	-18.2485	19.5244	0.95197	0.0:0.0:1.0:0.0	.	900;900	Q546R4;Q9H2T7	.;RBP17_HUMAN	I	900;330	ENSP00000427975:M900I	ENSP00000427975:M900I	M	+	3	0	RANBP17	170602353	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.813000	0.99286	2.683000	0.91414	0.655000	0.94253	ATG			0.428	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000372036.1		NM_022897		T	170669748	G	T	170669748	3	4	30	1	0	0	0	0	1	0	0	0	13050	1290	45	3	2794	3	RANBP17	5	170669748	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	96018741	170669748	10245512	25	2075											
MDGA1	266727	broad.mit.edu	37	chr6	37615066	37615066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgcgggtggggttgggGgtgtcgaagtaaaactccgg	6	9	20	6	3	0	0	0	0	0	0	2	1	1	0	1	7	2	3	1	7	3	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr6:37615066G>T	ENST00000434837.3	-	10	3107	c.1929C>A	c.(1927-1929)acC>acA	p.T643T	MDGA1_ENST00000505425.1_Silent_p.T643T|MDGA1_ENST00000510077.1_Intron|MDGA1_ENST00000297153.7_Silent_p.T646T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	643	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGGGGTTGGGGGTGTCGAAGT	0.617																																					p.T643T													.	MDGA1	104		0			c.C1929A												19	20	20					6																	37615066		1898	4068	5966	SO:0001819	synonymous_variant	266727	exon10			GTTGGGGGTGTCG	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1929C>A	6.37:g.37615066G>T			62	0	0		114	0.06	7	NM_153487	3	0	0	A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	CCDS47417.1																																																																																					0.617	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040419.3				T	37615066	G	T	37615066	2	4	30	1	0	0	0	0	0	0	0	1	9422	1219	43	3		3	MDGA1	6	37615066	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		37615066	133500001	26	2076											
C6orf35	729515	broad.mit.edu	37	chr6	157739925	157739925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggaagacccgctttcCggtaatgcagccgtggccat	9	7	13	12	3	0	1	0	0	0	1	1	2	1	2	4	3	2	4	4	3	3	2	rs376664299		TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr6:157739925C>T	ENST00000400788.4	-	3	317	c.216G>A	c.(214-216)ccG>ccA	p.P72P	TMEM242_ENST00000367144.4_Silent_p.P72P	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242	72						integral component of membrane (GO:0016021)											ACCCGCTTTCCGGTAATGCAG	0.498																																					p.P72P													.	.			0			c.G216A							C		0,3852		0,0,1926	83	90	88		216	-8.3	0.8	6		88	1,8237		0,1,4118	no	coding-synonymous	C6orf35	NM_018452.4		0,1,6044	TT,TC,CC		0.0121,0.0,0.0083		72/142	157739925	1,12089	1926	4119	6045	SO:0001819	synonymous_variant	729515	exon3			GCTTTCCGGTAAT	AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 35"	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.216G>A	6.37:g.157739925C>T			258	0	0		208	0.02	4	NM_018452	36	0	0	B9EJD0|Q9NZ88|Q9P094	Silent	SNP	ENST00000400788.4	37	CCDS43519.1																																																																																					0.498	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042837.2				T	157739925	C	T	157739925	2	4	30	1	0	0	0	0	0	0	0	1	2365	639	23	1		1	C6orf35	6	157739925	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	120124859	157739925	13375142	27	2077											
SDK1	221935	bcgsc.ca	37	chr7	4304811	4304811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactccttcgtgaaccactAcatgagcgaccccacctact	10	8	6	17	2	0	2	0	2	0	0	2	3	1	2	5	0	4	1	5	0	3	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr7:4304811A>G	ENST00000404826.2	+	45	6576	c.6437A>G	c.(6436-6438)tAc>tGc	p.Y2146C	SDK1_ENST00000389531.3_Missense_Mutation_p.Y2126C|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2146					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		GTGAACCACTACATGAGCGAC	0.687																																					p.Y2146C													.	SDK1	361		0			c.A6437G												66	68	68					7																	4304811		2203	4300	6503	SO:0001583	missense	221935	exon45			ACCACTACATGAG	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.6437A>G	7.37:g.4304811A>G	ENSP00000385899:p.Tyr2146Cys		82	0	0		134	0	0	NM_152744	16	0	0	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024556	0.75390	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.72725	-0.66;-0.68	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000007	D	0.83862	0.5346	M	0.83953	2.67	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.998;0.999;0.999	D;D;D;P	0.80764	0.994;0.911;0.98;0.903	D	0.86348	0.1709	10	0.87932	D	0	.	12.5626	0.56291	1.0:0.0:0.0:0.0	.	2126;206;633;2146	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	C	2146;394;2126	ENSP00000385899:Y2146C;ENSP00000374182:Y2126C	ENSP00000374182:Y2126C	Y	+	2	0	SDK1	4271337	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.706000	0.91362	1.698000	0.51180	0.454000	0.30748	TAC			0.687	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323702.1		NM_152744		G	4304811	A	G	4304811	3	3	30	1	0	0	0	0	1	0	0	0	13991	391	14	4	6615	4	SDK1	7	4304811	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10		4304811	154833852	28	2078											
AQP1	358	mdanderson.org	37	chr7	30951907	30951907	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcgcttggccgcaatgAcgtgagtggggtgtccctgg	6	9	16	10	3	0	2	0	2	0	0	2	3	1	2	2	4	1	2	2	4	2	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr7:30951907A>G	ENST00000311813.4	+	1	438	c.383A>G	c.(382-384)gAc>gGc	p.D128G	AQP1_ENST00000509504.1_Splice_Site_p.D305G|AQP1_ENST00000434909.2_Splice_Site_p.D188G	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	128					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|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)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	GGCCGCAATGACGTGAGTGGG	0.602																																					p.D128G													.	.			0			c.A383G												59	61	60					7																	30951907		2203	4300	6503	SO:0001630	splice_region_variant	358	exon1			GCAATGACGTGAG	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.384+1A>G	7.37:g.30951907A>G			33	0	0		49	0.06	3	NM_198098	64	0	0	B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	A	5.549	0.286185	0.10513	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000509504	D;D;D	0.92595	-3.07;-3.07;-3.07	4.61	0.294	0.15747	Aquaporin-like (2);	0.922143	0.09435	N	0.802583	T	0.70911	0.3278	N	0.00453	-1.485	0.19945	N	0.999944	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.001	T	0.64118	-0.6482	10	0.27785	T	0.31	.	4.9291	0.13909	0.2943:0.4527:0.2531:0.0	.	188;128	B4E220;P29972	.;AQP1_HUMAN	G	188;33;128;113;305	ENSP00000395059:D188G;ENSP00000311165:D128G;ENSP00000421315:D305G	ENSP00000265298:D33G	D	+	2	0	RP5-877J2.1;AQP1	30918432	0.001000	0.12720	0.440000	0.26846	0.268000	0.26511	0.057000	0.14279	0.098000	0.17522	0.459000	0.35465	GAC			0.602	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215002.3		NM_000385	Missense_Mutation	G	30951907	A	G	30951907	5	3	30	1	0	0	0	0	0	0	1	0	821	289	10	4	385	4	AQP1	7	30951907	Splice_Site	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10	26647096	30951907	128186756	29	2079											
MLL5	55904	bcgsc.ca	37	chr7	104703808	104703808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattattcaggaccataattAtggtgctcgtcctcctccga	10	13	7	11	2	1	0	1	0	0	0	5	2	4	1	4	2	1	1	4	2	4	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr7:104703808A>G	ENST00000311117.3	+	5	742	c.197A>G	c.(196-198)tAt>tGt	p.Y66C	KMT2E_ENST00000257745.4_Missense_Mutation_p.Y66C|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.Y66C|KMT2E_ENST00000476671.1_Missense_Mutation_p.Y66C	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	66					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)										GACCATAATTATGGTGCTCGT	0.343																																					p.Y66C													.	MLL5	173		0			c.A197G												75	77	77					7																	104703808		2203	4299	6502	SO:0001583	missense	55904	exon4			ATAATTATGGTGC	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.197A>G	7.37:g.104703808A>G	ENSP00000312379:p.Tyr66Cys		134	0	0		173	0	0	NM_018682	23	0	0	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.129288|4.129288	0.77549|0.77549	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000537308|ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000495267;ENST00000476671;ENST00000474203	.|D;D;D;T;D	.|0.94897	.|-3.23;-2.77;-3.23;1.29;-3.55	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96027|0.96027	0.8706|0.8706	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.997	D|D	0.96655|0.96655	0.9484|0.9484	6|10	0.87932|0.87932	D|D	0|0	.|.	15.8148|15.8148	0.78592|0.78592	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|66;66	.|Q8IZD2;Q8IZD2-3	.|MLL5_HUMAN;.	V|C	1|66	.|ENSP00000312379:Y66C;ENSP00000335599:Y66C;ENSP00000257745:Y66C;ENSP00000420415:Y66C;ENSP00000417888:Y66C	ENSP00000439074:M1V|ENSP00000257745:Y66C	M|Y	+|+	1|2	0|0	MLL5|MLL5	104491044|104491044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.043000|9.043000	0.93799|0.93799	2.200000|2.200000	0.70718|0.70718	0.477000|0.477000	0.44152|0.44152	ATG|TAT			0.343	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348697.1				G	104703808	A	G	104703808	3	3	30	1	0	0	0	0	1	0	0	0	9640	449	16	4	207	4	MLL5	7	104703808	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10	73751901	104703808	54434855	30	2080											
HYAL4	23553	bcgsc.ca	37	chr7	123508991	123508991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggttattatttatatcctGattgccacaattataacgtt	11	17	7	6	1	0	1	0	1	0	0	1	1	1	1	2	2	2	2	2	2	7	9			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr7:123508991G>A	ENST00000223026.4	+	3	1302	c.664G>A	c.(664-666)Gat>Aat	p.D222N	HYAL4_ENST00000476325.1_Missense_Mutation_p.D222N	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	222					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTTATATCCTGATTGCCACAA	0.433																																					p.D222N													.	HYAL4	65		0			c.G664A												73	75	75					7																	123508991		2203	4300	6503	SO:0001583	missense	23553	exon3			TATCCTGATTGCC	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.664G>A	7.37:g.123508991G>A	ENSP00000223026:p.Asp222Asn		103	0	0		105	0	0	NM_012269	22	0	0	D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777274	0.49786	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.25912	1.77;1.77	6.03	5.16	0.70880	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	M	0.72624	2.21	0.41888	D	0.990353	B;P	0.42357	0.117;0.777	B;B	0.35931	0.084;0.214	T	0.08186	-1.0734	9	.	.	.	-23.7794	11.322	0.49428	0.1379:0.0:0.8621:0.0	.	222;222	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	N	222	ENSP00000223026:D222N;ENSP00000417186:D222N	.	D	+	1	0	HYAL4	123296227	1.000000	0.71417	0.984000	0.44739	0.034000	0.12701	5.694000	0.68272	1.561000	0.49584	-0.136000	0.14681	GAT			0.433	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348545.1		NM_012269		A	123508991	G	A	123508991	3	1	30	1	0	0	0	0	1	0	0	0	7481	1290	45	3	666	3	HYAL4	7	123508991	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	18805183	123508991	35629672	31	2081											
SLC37A3	84255	bcgsc.ca	37	chr7	140064288	140064288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgatgccactgatgaataGgccctaaaaataaagcattt	17	9	7	8	1	0	2	0	2	0	0	0	3	0	2	2	1	3	1	2	1	8	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr7:140064288G>A	ENST00000326232.9	-	5	498	c.295C>T	c.(295-297)Cta>Tta	p.L99L	SLC37A3_ENST00000340308.3_Silent_p.L99L|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000429996.2_Silent_p.L99L|SLC37A3_ENST00000447932.2_Silent_p.L99L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	99					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTGATGAATAGGCCCTAAAAA	0.368																																					p.L99L	Esophageal Squamous(133;211 1716 4665 11387 37873)												.	SLC37A3	80		0			c.C295T												98	83	88					7																	140064288		2203	4300	6503	SO:0001819	synonymous_variant	84255	exon5			TGAATAGGCCCTA	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.295C>T	7.37:g.140064288G>A			110	0	0		145	0	0	NM_207113	59	0	0	Q6PIU7|Q86SS4|Q9BQG7	Silent	SNP	ENST00000326232.9	37	CCDS5859.1																																																																																					0.368	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348492.1		NM_032295		A	140064288	G	A	140064288	2	1	30	1	0	0	0	0	0	0	0	1	14622	991	35	3		3	SLC37A3	7	140064288	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	16555297	140064288	19074375	32	2082											
EPHB6	2051	bcgsc.ca;mdanderson.org	37	chr7	142562074	142562074	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcttcttcctctgcagcgtg	1	15	4	21	1	3	0	0	0	3	0	11	0	11	0	8	0	2	1	8	0	0	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr7:142562074C>T	ENST00000392957.2	+	7	1303	c.516C>T	c.(514-516)tcC>tcT	p.S172S	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.S172S	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	172	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Poly-Ser.					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)					cctcctcctcctcttcttcct	0.622																																					p.S172S													.	EPHB6	168		0			c.C516T												83	98	93					7																	142562074		2200	4299	6499	SO:0001819	synonymous_variant	2051	exon7			CTCCTCCTCTTCT	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.516C>T	7.37:g.142562074C>T			95	0.0105263158	1		103	0.06	6	NM_004445	6	0	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																					0.622	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341329.1				T	142562074	C	T	142562074	2	4	30	1	0	0	0	0	0	0	0	1	5185	668	24	3		3	EPHB6	7	142562074	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	2497786	142562074	16576589	33	2083											
C8orf58	541565	broad.mit.edu	37	chr8	22458529	22458529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagaggtgtcggcagggagGcactctttctcaaactggcc	8	9	13	11	1	3	1	2	0	2	1	5	2	3	2	1	5	1	2	1	5	1	1	rs374180743		TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr8:22458529G>A	ENST00000289989.5	+	2	249	c.175G>A	c.(175-177)Gca>Aca	p.A59T	C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000409586.3_Missense_Mutation_p.A59T			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	59										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CGGCAGGGAGGCACTCTTTCT	0.632																																					p.A59T													.	C8orf58	17		0			c.G175A												39	45	43					8																	22458529		2201	4299	6500	SO:0001583	missense	541565	exon2			AGGGAGGCACTCT	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.175G>A	8.37:g.22458529G>A	ENSP00000289989:p.Ala59Thr		168	0.005952381	1		192	0.03	6	NM_001013842	25	0	0	B4DI44	Missense_Mutation	SNP	ENST00000289989.5	37	CCDS34862.1	.	.	.	.	.	.	.	.	.	.	g	10.91	1.483295	0.26598	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989	.	.	.	4.2	1.21	0.21127	.	1.469060	0.04596	N	0.397716	T	0.23727	0.0574	N	0.22421	0.69	0.09310	N	1	B;B	0.27732	0.187;0.187	B;B	0.24155	0.051;0.051	T	0.19516	-1.0303	9	0.35671	T	0.21	-0.1832	4.3479	0.11141	0.2278:0.1892:0.583:0.0	.	59;59	Q8NAV2-2;Q8NAV2	.;CH058_HUMAN	T	128;59;59	.	ENSP00000399696:A128T	A	+	1	0	AC037459.4;C8orf58	22514474	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.276000	0.18716	0.099000	0.17552	0.448000	0.29417	GCA			0.632	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334183.1		NM_001013842		A	22458529	G	A	22458529	3	1	30	1	0	0	0	0	1	0	0	0	2435	1203	42	2	181	2	C8orf58	8	22458529	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		22458529	123905493	34	2084											
ZFHX4	79776	mdanderson.org	37	chr8	77775451	77775451	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaccacctccaccaccTcctcctcctcctcctccttc	5	10	0	26	0	0	0	0	0	0	0	9	0	8	0	12	0	0	0	12	0	0	1	rs199874527		TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr8:77775451T>A	ENST00000521891.2	+	11	9949	c.9501T>A	c.(9499-9501)ccT>ccA	p.P3167P	ZFHX4_ENST00000518282.1_Silent_p.P3141P|ZFHX4_ENST00000455469.2_Silent_p.P3122P|ZFHX4_ENST00000050961.6_Silent_p.P3118P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3118					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)			ctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																											p.P3167P													ZFHX4,colon,carcinoma,0,3	ZFHX4	0	3	0			c.T9501A												52	53	53					8																	77775451		2064	4225	6289	SO:0001819	synonymous_variant	79776	exon11			ACCACCTCCTCCT		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.9501T>A	8.37:g.77775451T>A			118	0	0		86	0.06	5	NM_024721	9	0.11	1	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																					0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379197.2		NM_024721		A	77775451	T	A	77775451	2	1	30	1	0	0	0	0	0	0	0	1	17658	1538	54	5		5	ZFHX4	8	77775451	Silent	SNP	T	TCGA-2G-AAGI-01A-11D-A42Y-10	55316922	77775451	68588571	35	2085											
LRP12	29967	bcgsc.ca	37	chr8	105509852	105509852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacataatcaccataacCagtaccatcaagtttaaagt	16	12	4	9	0	2	1	2	1	0	0	2	1	2	1	3	0	2	2	3	0	6	6			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr8:105509852C>A	ENST00000276654.5	-	5	1036	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C	LRP12_ENST00000424843.2_Missense_Mutation_p.G291C|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	310	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCACCATAACCAGTACCATCA	0.393																																					p.G310C													.	LRP12	124		0			c.G928T												61	60	60					8																	105509852		2203	4300	6503	SO:0001583	missense	29967	exon5			CATAACCAGTACC	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.928G>T	8.37:g.105509852C>A	ENSP00000276654:p.Gly310Cys		255	0	0		264	0	1	NM_013437	21	0	0	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645452	0.67358	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.09073	3.02;3.02	5.65	5.65	0.86999	CUB (5);	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	N	0.04275	-0.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47222	-0.9134	10	0.54805	T	0.06	-26.2997	19.7343	0.96195	0.0:1.0:0.0:0.0	.	291;310	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	C	291;310	ENSP00000399148:G291C;ENSP00000276654:G310C	ENSP00000276654:G310C	G	-	1	0	LRP12	105579028	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.294000	0.78760	2.660000	0.90430	0.467000	0.42956	GGT			0.393	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380821.1		NM_013437		A	105509852	C	A	105509852	3	1	30	1	0	0	0	0	1	0	0	0	8970	594	21	3	1663	3	LRP12	8	105509852	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	27734401	105509852	40854170	36	2086											
CIZ1	25792	mdanderson.org	37	chr9	130941375	130941375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgcacctgcttctgtgGctctgcctcctgctgcagct	2	13	11	15	0	2	0	0	0	2	0	3	0	3	0	3	2	6	7	3	2	0	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr9:130941375G>A	ENST00000393608.1	-	8	1313	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Missense_Mutation_p.P371S|CIZ1_ENST00000357558.5_Missense_Mutation_p.P371S|CIZ1_ENST00000372948.3_Missense_Mutation_p.P371S|CIZ1_ENST00000372954.1_Missense_Mutation_p.P347S|CIZ1_ENST00000541172.1_Missense_Mutation_p.P270S|CIZ1_ENST00000277465.4_Missense_Mutation_p.P371S|CIZ1_ENST00000325721.8_Missense_Mutation_p.P342S|CIZ1_ENST00000372938.5_Missense_Mutation_p.P371S	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	371	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgcttctgtggctctgcctcc	0.612																																					p.P401S													.	.			0			c.C1201T												39	34	36					9																	130941375		2203	4298	6501	SO:0001583	missense	25792	exon8			TCTGTGGCTCTGC	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1111C>T	9.37:g.130941375G>A	ENSP00000377232:p.Pro371Ser		80	0	0		87	0.05	4	NM_001257975	117	0	0	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479034	0.63849	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.38560	1.16;1.45;1.38;1.68;1.41;1.81;1.68;1.13;1.45;2.06	2.89	2.89	0.33648	.	0.129093	0.36200	N	0.002731	T	0.44222	0.1283	N	0.20986	0.625	0.27389	N	0.955199	D;D;P;D;D;D;P;D	0.76494	0.993;0.998;0.782;0.999;0.999;0.993;0.728;0.998	D;P;P;D;D;D;B;P	0.72982	0.979;0.852;0.506;0.93;0.93;0.968;0.349;0.852	T	0.12785	-1.0534	10	0.54805	T	0.06	-2.5144	8.0446	0.30542	0.0:0.2521:0.7479:0.0	.	371;366;371;371;347;371;342;371	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	S	347;371;371;371;342;338;270;371;347;371;371;293	ENSP00000362045:P347S;ENSP00000377232:P371S;ENSP00000439244:P371S;ENSP00000350169:P371S;ENSP00000320374:P342S;ENSP00000445057:P270S;ENSP00000277465:P371S;ENSP00000362039:P371S;ENSP00000362029:P371S;ENSP00000398011:P293S	ENSP00000277465:P371S	P	-	1	0	CIZ1	129981196	0.031000	0.19500	0.865000	0.33974	0.487000	0.33371	0.013000	0.13310	1.930000	0.55929	0.549000	0.68633	CCA			0.612	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054399.1		NM_012127		A	130941375	G	A	130941375	3	1	30	1	0	0	0	0	1	0	0	0	3443	1203	42	2	1625	2	CIZ1	9	130941375	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		130941375	10272056	37	2087											
ADAMTSL2	9719	mdanderson.org	37	chr9	136404996	136404996	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggaagcctctgtacccggGtacctgccgccctggggacc	5	7	14	15	2	1	0	0	0	1	0	1	2	1	2	6	4	4	2	6	4	3	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr9:136404996G>T	ENST00000354484.4	+	5	969		c.e5+1		ADAMTSL2_ENST00000393061.3_Splice_Site|ADAMTSL2_ENST00000393060.1_Splice_Site	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CTGTACCCGGGTACCTGCCGC	0.672																																					.													ADAMTSL2,colon,carcinoma,0,1	ADAMTSL2	0	1	0			c.412+1G>T												26	23	24					9																	136404996		1915	3703	5618	SO:0001630	splice_region_variant	9719	exon5			ACCCGGGTACCTG	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.412+1G>T	9.37:g.136404996G>T			51	0	0		47	0.06	3	NM_001145320	0		0	B1B0D5|O60345	Splice_Site	SNP	ENST00000354484.4	37	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507631	0.85282	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2939	0.94114	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTSL2	135394817	1.000000	0.71417	0.993000	0.49108	0.834000	0.47266	9.134000	0.94467	2.572000	0.86782	0.650000	0.86243	.			0.672	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254619.1		NM_014694	Intron	T	136404996	G	T	136404996	5	4	30	1	0	0	0	0	0	0	1	0	275	1275	44	3	427	3	ADAMTSL2	9	136404996	Splice_Site	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	5463621	136404996	4808435	38	2088											
ANK3	288	bcgsc.ca	37	chr10	61844468	61844468	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaggaagattctacgggAtcattcattttggcaaaaac	14	10	9	8	2	3	1	2	0	1	1	3	3	3	3	0	3	2	2	0	3	5	5			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr10:61844468A>T	ENST00000280772.2	-	32	4157	c.3966T>A	c.(3964-3966)gaT>gaA	p.D1322E	ANK3_ENST00000373827.2_Missense_Mutation_p.D1316E|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000355288.2_Missense_Mutation_p.D456E|ANK3_ENST00000503366.1_Missense_Mutation_p.D1323E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1322	UPA domain. {ECO:0000250}.				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						ATTCTACGGGATCATTCATTT	0.393																																					p.D1323E													.	ANK3	703		0			c.T3969A												133	126	128					10																	61844468		2203	4300	6503	SO:0001583	missense	288	exon33			TACGGGATCATTC	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.3966T>A	10.37:g.61844468A>T	ENSP00000280772:p.Asp1322Glu		135	0	0		105	0	0	NM_001204404	20	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.650751	0.67472	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	6.04	2.46	0.29980	.	0.184955	0.26546	N	0.023775	T	0.43144	0.1234	L	0.52905	1.665	0.80722	D	1	D;D;D;D;B;P;B	0.71674	0.989;0.997;0.995;0.998;0.032;0.92;0.018	P;P;D;P;B;P;B	0.75020	0.766;0.817;0.985;0.846;0.023;0.754;0.009	T	0.23797	-1.0178	10	0.66056	D	0.02	.	5.012	0.14317	0.6499:0.0:0.2235:0.1266	.	1323;456;855;1316;1322;557;456	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	E	1322;1316;456;456;1323;1302;557;957;957;455;855	ENSP00000280772:D1322E;ENSP00000362933:D1316E;ENSP00000347436:D456E;ENSP00000425236:D1323E	ENSP00000280772:D1322E	D	-	3	2	ANK3	61514474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.798000	0.27014	0.174000	0.19809	0.459000	0.35465	GAT			0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048201.4		NM_020987		T	61844468	A	T	61844468	3	4	30	1	0	0	0	0	1	0	0	0	622	330	12	5	9528	5	ANK3	10	61844468	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10		61844468	73690279	39	2089											
TET1	80312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr10	70332383	70332383	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcagaacccagagtcCttaacctgcaatgggtttac	10	13	7	11	0	1	2	1	0	0	2	2	2	2	2	3	1	4	2	3	1	4	5			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr10:70332383C>G	ENST00000373644.4	+	2	497	c.288C>G	c.(286-288)tcC>tcG	p.S96S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	96					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						ACCCAGAGTCCTTAACCTGCA	0.512																																					p.S96S													.	.			0			c.C288G												56	56	56					10																	70332383		2203	4300	6503	SO:0001819	synonymous_variant	80312	exon2			AGAGTCCTTAACC	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.288C>G	10.37:g.70332383C>G			104	0	0		102	0.37	38	NM_030625	7	0.57	4	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																					0.512	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048354.1		NM_030625		G	70332383	C	G	70332383	2	3	30	1	0	0	0	0	0	0	0	1	15792	668	24	5		5	TET1	10	70332383	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	8487915	70332383	65202364	40	2090											
ASCC1	51008	mdanderson.org	37	chr10	73970549	73970549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtggggtctgctccacCtcgtaggcatcacagggctc	5	10	12	14	1	2	0	1	0	1	0	5	0	3	0	3	4	1	4	3	4	1	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr10:73970549C>T	ENST00000342444.4	-	3	254	c.153G>A	c.(151-153)gaG>gaA	p.E51E	ASCC1_ENST00000545550.1_Silent_p.E73E|ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000394919.1_Silent_p.E51E|ASCC1_ENST00000317126.4_Silent_p.E51E|ASCC1_ENST00000317168.6_Silent_p.E51E|ASCC1_ENST00000394915.3_Silent_p.E51E	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TCTGCTCCACCTCGTAGGCAT	0.517																																					p.E51E													.	.			0			c.G153A												96	82	87					10																	73970549		2203	4300	6503	SO:0001819	synonymous_variant	51008	exon3			CTCCACCTCGTAG	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.153G>A	10.37:g.73970549C>T			72	0	0		54	0.06	3	NM_001198798	43	0	0	Q5SW06|Q5SW07|Q96EI8|Q9Y307	Silent	SNP	ENST00000342444.4	37	CCDS55713.1																																																																																					0.517	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000048573.2		NM_015947		T	73970549	C	T	73970549	2	4	30	1	0	0	0	0	0	0	0	1	1031	680	24	3		3	ASCC1	10	73970549	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	3638166	73970549	61564198	41	2091											
STAMBPL1	57559	bcgsc.ca	37	chr10	90672864	90672864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccacactttttagaacaaaTataaagctgaaattctcaaa	18	11	4	8	0	1	2	1	1	1	1	2	2	1	2	1	0	2	1	1	0	8	6			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr10:90672864T>C	ENST00000371926.3	+	6	1385	c.427T>C	c.(427-429)Tat>Cat	p.Y143H	STAMBPL1_ENST00000371922.1_5'UTR|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.Y143H|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.Y143H	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	143						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTAGAACAAATATAAAGCTGA	0.413																																					p.Y143H													.	STAMBPL1	63		0			c.T427C												66	77	73					10																	90672864		2203	4299	6502	SO:0001583	missense	57559	exon6			AACAAATATAAAG	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.427T>C	10.37:g.90672864T>C	ENSP00000360994:p.Tyr143His		38	0	0		46	0	0	NM_020799	27	0	0	B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613028	0.28712	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924	T;T;T	0.21932	1.99;1.98;1.99	5.98	4.85	0.62838	.	0.335916	0.29579	N	0.011746	T	0.11324	0.0276	N	0.22421	0.69	0.80722	D	1	P;P	0.41748	0.56;0.761	B;B	0.31751	0.095;0.135	T	0.14172	-1.0482	10	0.28530	T	0.3	-3.6019	9.5956	0.39571	0.0:0.0798:0.0:0.9202	.	143;143	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	H	143	ENSP00000360994:Y143H;ENSP00000360995:Y143H;ENSP00000360992:Y143H	ENSP00000360992:Y143H	Y	+	1	0	STAMBPL1	90662844	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.393000	0.34497	1.076000	0.40961	0.533000	0.62120	TAT			0.413	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049283.1		NM_020799		C	90672864	T	C	90672864	3	2	30	1	0	0	0	0	1	0	0	0	15274	1406	49	4	445	4	STAMBPL1	10	90672864	Missense_Mutation	SNP	T	TCGA-2G-AAGI-01A-11D-A42Y-10	16702315	90672864	44861883	42	2092											
CYP26A1	1592	broad.mit.edu;mdanderson.org	37	chr10	94834916	94834916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgctcagggcatgaaggCgcggaacctcattcacgcgc	8	6	13	14	5	3	1	3	1	0	0	3	2	3	2	1	3	2	2	1	3	2	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr10:94834916C>A	ENST00000224356.4	+	4	761	c.716C>A	c.(715-717)gCg>gAg	p.A239E	CYP26A1_ENST00000394139.1_Missense_Mutation_p.A170E|CYP26A1_ENST00000371531.1_Missense_Mutation_p.A170E	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	239					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	GGCATGAAGGCGCGGAACCTC	0.697																																					p.A239E													CYP26A1,NS,carcinoma,0,1	CYP26A1	59	1	0			c.C716A												28	30	29					10																	94834916		2201	4297	6498	SO:0001583	missense	0	exon4			TGAAGGCGCGGAA	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.716C>A	10.37:g.94834916C>A	ENSP00000224356:p.Ala239Glu		126	0.0158730159	2		90	0.07	6	NM_000783	7	0	0	B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687807	0.88639	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.71817	-0.6;-0.6;-0.6	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	M	0.87971	2.92	0.80722	D	1	P;D	0.89917	0.768;1.0	P;D	0.79108	0.597;0.992	D	0.88270	0.2929	10	0.87932	D	0	-22.1793	16.9729	0.86305	0.0:1.0:0.0:0.0	.	170;239	B3KNI4;O43174	.;CP26A_HUMAN	E	170;239;170	ENSP00000360586:A170E;ENSP00000224356:A239E;ENSP00000377695:A170E	ENSP00000224356:A239E	A	+	2	0	CYP26A1	94824906	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.642000	0.74329	2.689000	0.91719	0.462000	0.41574	GCG			0.697	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049408.3				A	94834916	C	A	94834916	3	1	30	1	0	0	0	0	1	0	0	0	4157	768	27	1	730	1	CYP26A1	10	94834916	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	4162052	94834916	40699831	43	2093											
MMS19	64210	bcgsc.ca	37	chr10	99218609	99218609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccagtctcttcttgtcatCcaggggtttggctaaggccc	6	12	10	13	0	3	0	1	0	2	0	5	0	4	0	3	4	0	2	3	4	1	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr10:99218609C>T	ENST00000438925.2	-	30	3348	c.3013G>A	c.(3013-3015)Gat>Aat	p.D1005N	MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000355839.6_Missense_Mutation_p.D962N|MMS19_ENST00000370782.2_Missense_Mutation_p.D1005N|MMS19_ENST00000327238.10_Missense_Mutation_p.D907N	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	1005					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)		TTCTTGTCATCCAGGGGTTTG	0.532								Direct reversal of damage																													p.D1005N													.	MMS19	36		0			c.G3013A												124	95	105					10																	99218609		2203	4300	6503	SO:0001583	missense	64210	exon30			TGTCATCCAGGGG	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.3013G>A	10.37:g.99218609C>T	ENSP00000412698:p.Asp1005Asn		150	0	0		168	0	0	NM_022362	115	0	0	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	CCDS7464.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.147874|5.147874	0.94603|0.94603	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839|ENST00000444411;ENST00000434538	T;T;T;T|.	0.67865|.	-0.1;-0.1;-0.29;-0.1|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83986|.	0.5373|.	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.91635|.	0.983;0.999;0.999;0.961;0.983|.	D|.	0.85197|.	0.1013|.	10|.	0.48119|.	T|.	0.1|.	.|.	19.7572|19.7572	0.96298|0.96298	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1026;907;962;1005;962|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	N|X	1005;1005;907;984;962|64;572	ENSP00000412698:D1005N;ENSP00000359818:D1005N;ENSP00000320059:D907N;ENSP00000348097:D962N|.	ENSP00000320059:D907N|.	D|W	-|-	1|3	0|0	MMS19|MMS19	99208599|99208599	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.987000|0.987000	0.75469|0.75469	5.439000|5.439000	0.66556|0.66556	2.667000|2.667000	0.90743|0.90743	0.650000|0.650000	0.86243|0.86243	GAT|TGG			0.532	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049706.2				T	99218609	C	T	99218609	3	4	30	1	0	0	0	0	1	0	0	0	9688	855	30	3	87	3	MMS19	10	99218609	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	4383693	99218609	36316138	44	2094											
SEC31B	25956	bcgsc.ca	37	chr10	102250017	102250017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaagaggccatgtcccagGgaatcccaccgggttaggaa	12	5	14	10	1	0	1	0	0	0	1	2	4	2	4	4	5	0	1	4	5	4	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr10:102250017G>A	ENST00000370345.3	-	21	2810	c.2713C>T	c.(2713-2715)Cct>Tct	p.P905S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	905	Pro-rich.				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)		CATGTCCCAGGGAATCCCACC	0.542																																					p.P905S													.	SEC31B	84		0			c.C2713T												90	76	81					10																	102250017		2203	4300	6503	SO:0001583	missense	25956	exon21			TCCCAGGGAATCC	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.2713C>T	10.37:g.102250017G>A	ENSP00000359370:p.Pro905Ser		137	0	0		127	0	0	NM_015490	4	0	0	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234124	0.39498	.	.	ENSG00000075826	ENST00000370345	T	0.56275	0.47	5.75	3.83	0.44106	.	0.363651	0.34802	N	0.003669	T	0.45236	0.1332	M	0.66939	2.045	0.80722	D	1	B;B	0.28636	0.218;0.013	B;B	0.22386	0.039;0.007	T	0.35101	-0.9802	10	0.38643	T	0.18	-0.0345	6.507	0.22200	0.0931:0.0:0.7274:0.1794	.	904;905	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	905	ENSP00000359370:P905S	ENSP00000359370:P905S	P	-	1	0	SEC31B	102240007	0.998000	0.40836	0.286000	0.24833	0.917000	0.54804	1.025000	0.30090	0.707000	0.31934	0.561000	0.74099	CCT			0.542	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051198.1		NM_015490		A	102250017	G	A	102250017	3	1	30	1	0	0	0	0	1	0	0	0	14022	1232	43	3	850	3	SEC31B	10	102250017	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	3031408	102250017	33284730	45	2095											
C10orf79	80217	mdanderson.org	37	chr10	105953723	105953723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaccgagccatcctccGtgcccacggctgcagagagg	9	5	13	14	3	0	2	0	0	0	2	2	4	2	2	5	2	3	3	5	2	1	1	rs538157333		TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr10:105953723G>T	ENST00000278064.2	-	11	1461	c.1136C>A	c.(1135-1137)aCg>aAg	p.T379K	WDR96_ENST00000357060.3_Missense_Mutation_p.T448K|WDR96_ENST00000369720.1_Missense_Mutation_p.T379K|WDR96_ENST00000428666.1_Missense_Mutation_p.T449K																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCATCCTCCGTGCCCACGGC	0.542																																					p.T448K													.	.			0			c.C1343A												121	102	108					10																	105953723		2203	4300	6503	SO:0001583	missense	80217	exon11			TCCTCCGTGCCCA																												ENST00000278064.2:c.1136C>A	10.37:g.105953723G>T	ENSP00000278064:p.Thr379Lys		55	0	0		46	0.07	3	NM_025145	1	0	0		Missense_Mutation	SNP	ENST00000278064.2	37		.	.	.	.	.	.	.	.	.	.	G	16.39	3.109127	0.56398	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.32753	1.44;1.44;1.44;1.51	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.38058	N	0.001837	T	0.53334	0.1790	M	0.74881	2.28	0.44890	D	0.997908	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.46898	-0.9158	10	0.29301	T	0.29	.	14.3675	0.66815	0.0:0.0:1.0:0.0	.	449;448	B4DHB6;Q8NDM7	.;WDR96_HUMAN	K	448;449;379;379	ENSP00000349568:T448K;ENSP00000400289:T449K;ENSP00000278064:T379K;ENSP00000358734:T379K	ENSP00000278064:T379K	T	-	2	0	WDR96	105943713	0.997000	0.39634	0.950000	0.38849	0.088000	0.18126	4.969000	0.63735	2.652000	0.90054	0.650000	0.86243	ACG			0.542	WDR96-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000050200.1				T	105953723	G	T	105953723	3	4	30	1	0	0	0	0	1	0	0	0	1620	1145	40	1	3766	1	C10orf79	10	105953723	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	3703706	105953723	29581024	46	2096											
NRAP	4892	broad.mit.edu	37	chr10	115383357	115383357	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagacgcagctcaaacccTtttgctttctggttttccca	8	14	6	13	1	3	1	2	0	1	1	4	1	4	1	2	1	3	4	2	1	2	5			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr10:115383357T>C	ENST00000359988.3	-	23	2632	c.2388A>G	c.(2386-2388)aaA>aaG	p.K796K	NRAP_ENST00000369360.3_Silent_p.K769K|NRAP_ENST00000360478.3_Silent_p.K761K|NRAP_ENST00000369358.4_Silent_p.K804K	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCTCAAACCCTTTTGCTTTCT	0.512																																					p.K796K													.	NRAP	208		0			c.A2388G												161	150	153					10																	115383357		2203	4300	6503	SO:0001819	synonymous_variant	4892	exon23			AAACCCTTTTGCT		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2388A>G	10.37:g.115383357T>C			177	0	0		133	0.03	4	NM_001261463	0		0		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																					0.512	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050425.2		NM_006175		C	115383357	T	C	115383357	2	2	30	1	0	0	0	0	0	0	0	1	10655	1606	56	4		4	NRAP	10	115383357	Silent	SNP	T	TCGA-2G-AAGI-01A-11D-A42Y-10	9429634	115383357	20151390	47	2097											
CKAP5	9793	bcgsc.ca	37	chr11	46812057	46812057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctatttctttagtctccagtCctttcttgttcttggttcca	4	21	5	11	0	4	0	0	0	4	0	7	0	6	0	3	1	0	2	3	1	2	9			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr11:46812057C>G	ENST00000529230.1	-	14	1773	c.1727G>C	c.(1726-1728)gGa>gCa	p.G576A	CKAP5_ENST00000354558.3_Missense_Mutation_p.G576A|CKAP5_ENST00000415402.1_Missense_Mutation_p.G576A|CKAP5_ENST00000312055.5_Missense_Mutation_p.G576A			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	576					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AGTCTCCAGTCCTTTCTTGTT	0.448																																					p.G576A	Ovarian(4;85 273 2202 4844 13323)												.	CKAP5	134		0			c.G1727C												159	141	147					11																	46812057		2201	4299	6500	SO:0001583	missense	9793	exon14			TCCAGTCCTTTCT		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1727G>C	11.37:g.46812057C>G	ENSP00000432768:p.Gly576Ala		165	0	0		128	0	0	NM_014756	50	0	0	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	1.689	-0.504582	0.04261	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.39997	1.06;1.05;1.05;1.05	5.96	-1.0	0.10196	.	0.614994	0.18119	N	0.151107	T	0.13927	0.0337	N	0.01493	-0.835	0.29881	N	0.826045	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.0	T	0.34950	-0.9808	10	0.02654	T	1	-7.6756	14.9236	0.70859	0.111:0.3033:0.5857:0.0	.	576;576;576	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	A	576	ENSP00000432768:G576A;ENSP00000395302:G576A;ENSP00000310227:G576A;ENSP00000346566:G576A	ENSP00000310227:G576A	G	-	2	0	CKAP5	46768633	0.002000	0.14202	0.117000	0.21633	0.891000	0.51852	-0.035000	0.12205	-0.119000	0.11830	-0.315000	0.08773	GGA			0.448	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390679.1		NM_014756		G	46812057	C	G	46812057	3	3	30	1	0	0	0	0	1	0	0	0	3447	855	30	5	4495	5	CKAP5	11	46812057	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10		46812057	88194459	48	2098											
SLC15A3	51296	mdanderson.org	37	chr11	60718684	60718684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcagcaggcccgaggCggccaggtagagcagcaggc	8	1	20	12	3	0	1	0	0	0	1	0	2	0	1	2	7	3	5	2	7	1	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr11:60718684C>T	ENST00000227880.3	-	1	573	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	114					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGGCCCGAGGCGGCCAGGTAG	0.771																																					p.A114T													.	.			0			c.G340A												3	3	3					11																	60718684		1496	2965	4461	SO:0001583	missense	51296	exon1			CCGAGGCGGCCAG	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.340G>A	11.37:g.60718684C>T	ENSP00000227880:p.Ala114Thr		18	0	0		12	0.17	2	NM_016582	8	0	0	Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786977	0.49997	.	.	ENSG00000110446	ENST00000227880;ENST00000442626	T	0.04502	3.61	3.4	1.46	0.22682	Major facilitator superfamily domain, general substrate transporter (1);	0.537282	0.15664	N	0.250735	T	0.04907	0.0132	L	0.51422	1.61	0.09310	N	1	B;B	0.26258	0.145;0.06	B;B	0.23018	0.043;0.009	T	0.34527	-0.9825	10	0.54805	T	0.06	-10.0792	4.5044	0.11879	0.1788:0.6158:0.0:0.2054	.	114;114	F5H1C8;Q8IY34	.;S15A3_HUMAN	T	114	ENSP00000227880:A114T	ENSP00000227880:A114T	A	-	1	0	SLC15A3	60475260	0.005000	0.15991	0.001000	0.08648	0.924000	0.55760	1.008000	0.29872	0.255000	0.21593	0.561000	0.74099	GCC			0.771	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396366.1		NM_016582		T	60718684	C	T	60718684	3	4	30	1	0	0	0	0	1	0	0	0	14423	768	27	1	1437	1	SLC15A3	11	60718684	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	13906627	60718684	74287832	49	2099											
POU2F3	25833	mdanderson.org	37	chr11	120176445	120176445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctcaacctgagcttcaaGaacatgtgcaagctcaagcc	12	7	8	14	0	3	2	3	1	0	1	3	2	3	2	3	0	6	3	3	0	5	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr11:120176445G>A	ENST00000543440.2	+	8	870	c.720G>A	c.(718-720)aaG>aaA	p.K240K	POU2F3_ENST00000260264.4_Silent_p.K242K	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	240	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				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)		TGAGCTTCAAGAACATGTGCA	0.572																																					p.K242K													.	.			0			c.G726A												142	119	127					11																	120176445		2203	4299	6502	SO:0001819	synonymous_variant	25833	exon8			CTTCAAGAACATG	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.720G>A	11.37:g.120176445G>A			111	0	0		50	0.06	3	NM_001244682	4	0	0	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	CCDS8431.1																																																																																					0.572	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388039.2				A	120176445	G	A	120176445	2	1	30	1	0	0	0	0	0	0	0	1	12290	933	33	3		3	POU2F3	11	120176445	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	59457761	120176445	14830071	50	2100											
WNT5B	81029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	1755317	1755317	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtggctacaaccagttcAagagcgtgcaggtggagcgc	9	6	16	10	3	1	1	1	0	0	1	1	2	1	2	1	4	5	3	1	4	3	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr12:1755317A>G	ENST00000397196.2	+	5	1211	c.979A>G	c.(979-981)Aag>Gag	p.K327E	WNT5B_ENST00000310594.3_Missense_Mutation_p.K327E|WNT5B_ENST00000537031.1_Missense_Mutation_p.K327E|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	327					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)			CAACCAGTTCAAGAGCGTGCA	0.597																																					p.K327E													.	.			0			c.A979G												47	51	50					12																	1755317		2203	4300	6503	SO:0001583	missense	81029	exon5			CAGTTCAAGAGCG	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.979A>G	12.37:g.1755317A>G	ENSP00000380379:p.Lys327Glu		61	0	0		133	0.41	55	NM_032642	56	0.43	24	A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431233	0.83776	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196	T;T;T	0.75260	-0.92;-0.92;-0.92	5.15	5.15	0.70609	.	0.047856	0.85682	D	0.000000	T	0.75576	0.3868	L	0.31420	0.93	0.80722	D	1	P	0.49559	0.925	P	0.56648	0.803	T	0.76971	-0.2761	10	0.48119	T	0.1	.	15.1447	0.72641	1.0:0.0:0.0:0.0	.	327	Q9H1J7	WNT5B_HUMAN	E	327	ENSP00000439312:K327E;ENSP00000308887:K327E;ENSP00000380379:K327E	ENSP00000308887:K327E	K	+	1	0	WNT5B	1625578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.202000	0.77856	2.159000	0.67721	0.533000	0.62120	AAG			0.597	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206747.2				G	1755317	A	G	1755317	3	3	30	1	0	0	0	0	1	0	0	0	17416	131	5	4	993	4	WNT5B	12	1755317	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10		1755317	132096578	51	2101											
CLSTN3	9746	broad.mit.edu	37	chr12	7302201	7302201	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggatgacctggatccCgagcgggaaagcctgctcct	7	7	16	11	2	0	1	0	1	0	0	2	5	2	4	4	4	3	1	4	4	1	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr12:7302201C>A	ENST00000266546.6	+	14	2607	c.2157C>A	c.(2155-2157)ccC>ccA	p.P719P	CLSTN3_ENST00000537408.1_Silent_p.P731P	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	719					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCTGGATCCCGAGCGGGAAA	0.577																																					p.P719P													.	CLSTN3	84		0			c.C2157A												83	75	78					12																	7302201		2203	4300	6503	SO:0001819	synonymous_variant	9746	exon14			GGATCCCGAGCGG	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2157C>A	12.37:g.7302201C>A			120	0	0		321	0.01	4	NM_014718	221	0	0	D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	CCDS8575.1																																																																																					0.577	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398560.2		NM_014718		A	7302201	C	A	7302201	2	1	30	1	0	0	0	0	0	0	0	1	3565	639	23	1		1	CLSTN3	12	7302201	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	5546884	7302201	126549694	52	2102											
ESYT1	23344	mdanderson.org	37	chr12	56532268	56532268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatccatctatatggagcgGgcagaggacctcccggtgag	9	8	13	11	2	1	2	0	1	1	1	3	4	3	4	3	4	1	1	3	4	3	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr12:56532268G>A	ENST00000394048.5	+	22	2682	c.2418G>A	c.(2416-2418)cgG>cgA	p.R806R	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Silent_p.R816R|ESYT1_ENST00000267113.4_Silent_p.R816R	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						ATATGGAGCGGGCAGAGGACC	0.582																																					p.R816R													ESYT1,caecum,carcinoma,+2,2	ESYT1	2	2	0			c.G2448A												29	30	30					12																	56532268		2203	4300	6503	SO:0001819	synonymous_variant	23344	exon22			GGAGCGGGCAGAG	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2418G>A	12.37:g.56532268G>A			42	0	0		53	0.06	3	NM_001184796	109	0	0	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	CCDS8904.1																																																																																					0.582	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000407906.1		NM_015292		A	56532268	G	A	56532268	2	1	30	1	0	0	0	0	0	0	0	1	5271	1219	43	3		3	ESYT1	12	56532268	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	49230067	56532268	77319627	53	2103											
C12orf51	283450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	112641514	112641514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggcaaattttggcagagCagttccaacagcactgctgg	11	9	12	9	0	0	1	0	0	0	1	1	2	1	1	1	3	4	6	1	3	2	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr12:112641514C>T	ENST00000430131.2	-	53	8211	c.7066G>A	c.(7066-7068)Gct>Act	p.A2356T	HECTD4_ENST00000550722.1_Missense_Mutation_p.A2632T|HECTD4_ENST00000377560.5_Missense_Mutation_p.A2606T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2356					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)										TTTGGCAGAGCAGTTCCAACA	0.458																																					p.A2644T													.	.			0			c.G7930A												64	61	62					12																	112641514		1883	4113	5996	SO:0001583	missense	283450	exon54			GCAGAGCAGTTCC	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.7066G>A	12.37:g.112641514C>T	ENSP00000404379:p.Ala2356Thr		175	0	0		202	0.33	66	NM_001109662	18	0.5	9	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.947589	0.97134	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.24723	1.84;1.84;1.84	6.17	6.17	0.99709	.	0.182643	0.36972	U	0.002303	T	0.40171	0.1106	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.25257	-1.0137	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2356	Q9Y4D8	K0614_HUMAN	T	2606;2356;2632	ENSP00000366783:A2606T;ENSP00000404379:A2356T;ENSP00000449784:A2632T	ENSP00000366783:A2606T	A	-	1	0	C12orf51	111125897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.478000	0.81082	2.941000	0.99782	0.655000	0.94253	GCT			0.458	HECTD4-202	KNOWN	basic	protein_coding	protein_coding				NM_173813		T	112641514	C	T	112641514	3	4	30	1	0	0	0	0	1	0	0	0	1698	710	25	2	5016	2	C12orf51	12	112641514	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	56109246	112641514	21210381	54	2104											
TPTE2	93492	broad.mit.edu	37	chr13	20025336	20025336	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactcgatagtggtttcgAtgtttcttatctagaaaccg	10	15	9	7	3	2	2	0	0	2	2	4	4	2	2	1	1	1	2	1	1	5	6	rs545861513	byFrequency	TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr13:20025336A>G	ENST00000400230.2	-	11	815	c.771T>C	c.(769-771)caT>caC	p.H257H	TPTE2_ENST00000390680.2_Silent_p.H180H|TPTE2_ENST00000400103.2_Silent_p.H146H|TPTE2_ENST00000382975.4_Silent_p.H217H|TPTE2_ENST00000255310.6_Silent_p.H180H|TPTE2_ENST00000457266.2_Silent_p.H146H|TPTE2_ENST00000382977.4_Silent_p.H257H|TPTE2_ENST00000382978.1_Silent_p.H217H			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	257	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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)		AGTGGTTTCGATGTTTCTTAT	0.358													a|||	6	0.00119808	0.003	0.0014	5008	,	,		20859	0		0.001	False		,,,				2504	0				p.H257H													.	TPTE2	225		0			c.T771C												132	116	122					13																	20025336		2203	4299	6502	SO:0001819	synonymous_variant	93492	exon12			GTTTCGATGTTTC	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.771T>C	13.37:g.20025336A>G			86	0.011627907	1		93	0.05	5	NM_199254	0		0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	CCDS45014.1																																																																																					0.358	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_199254		G	20025336	A	G	20025336	2	3	30	1	0	0	0	0	0	0	0	1	16455	330	12	4		4	TPTE2	13	20025336	Silent	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10		20025336	95144542	55	2105											
KLHDC2	23588	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr14	50249093	50249093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttaaatgcaggttatGgcacacagcttgtgccagcg	9	13	11	8	1	0	0	0	0	0	0	0	0	0	0	1	2	4	5	1	2	3	5			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr14:50249093G>C	ENST00000298307.5	+	11	1823	c.962G>C	c.(961-963)tGg>tCg	p.W321S	KLHDC2_ENST00000557247.1_Missense_Mutation_p.G297R|NEMF_ENST00000556925.1_5'Flank|KLHDC2_ENST00000554589.1_Missense_Mutation_p.W321S	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	321						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)					TGCAGGTTATGGCACACAGCT	0.413																																					p.W321S													.	.			0			c.G962C												156	152	154					14																	50249093		2203	4300	6503	SO:0001583	missense	23588	exon11			GGTTATGGCACAC	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.962G>C	14.37:g.50249093G>C	ENSP00000298307:p.Trp321Ser		119	0	0		165	0.24	39	NM_014315	155	0.26	41	B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	CCDS9693.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.576928|4.576928	0.86645|0.86645	.|.	.|.	ENSG00000165516|ENSG00000165516	ENST00000557247|ENST00000298307;ENST00000554589	T|T;T	0.05319|0.61392	3.46|0.11;0.11	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Kelch-type beta propeller (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74397|0.74397	0.3711|0.3711	M|M	0.73962|0.73962	2.25|2.25	0.46241|0.46241	D|D	0.998943|0.998943	P|D;D	0.36144|0.76494	0.539|0.999;0.998	B|D;D	0.38755|0.85130	0.281|0.997;0.991	T|T	0.69698|0.69698	-0.5075|-0.5075	8|10	.|0.18710	.|T	.|0.47	-6.5579|-6.5579	17.5601|17.5601	0.87903|0.87903	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297|321;321	G3V2H2|G3V3U8;Q9Y2U9	.|.;KLDC2_HUMAN	R|S	297|321	ENSP00000450658:G297R|ENSP00000298307:W321S;ENSP00000451439:W321S	.|ENSP00000298307:W321S	G|W	+|+	1|2	0|0	KLHDC2|KLHDC2	49318843|49318843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.038000|9.038000	0.93771|0.93771	2.630000|2.630000	0.89119|0.89119	0.655000|0.655000	0.94253|0.94253	GGC|TGG			0.413	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276869.1				C	50249093	G	C	50249093	3	2	30	1	0	0	0	0	1	0	0	0	8371	1357	47	5	1004	5	KLHDC2	14	50249093	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		50249093	57100447	56	2106											
ACOT6	641372	broad.mit.edu	37	chr14	74086410	74086410	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctgtgcacgctgtttTgggtgaggcaatattctatg	7	15	12	7	1	2	1	0	1	2	0	2	1	2	1	0	2	2	5	0	2	3	6			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr14:74086410T>G	ENST00000381139.1	+	2	822	c.491T>G	c.(490-492)tTg>tGg	p.L164W	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	164						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CACGCTGTTTTGGGTGAGGCA	0.448																																					p.L164W													.	ACOT6	12		0			c.T491G												55	51	52					14																	74086410		2203	4300	6503	SO:0001583	missense	641372	exon2			CTGTTTTGGGTGA	DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"Acyl CoA thioesterases"	33159	protein-coding gene	gene with protein product		614267	"chromosome 14 open reading frame 42"	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.491T>G	14.37:g.74086410T>G	ENSP00000370531:p.Leu164Trp		98	0.0306122449	3		145	0.06	9	NM_001037162	1	0	0		Missense_Mutation	SNP	ENST00000381139.1	37	CCDS32118.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647939	0.29336	.	.	ENSG00000205669	ENST00000554229;ENST00000381139	T;T	0.59772	1.37;0.24	5.62	5.62	0.85841	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.427611	0.20146	N	0.098261	T	0.76435	0.3987	M	0.78456	2.415	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.71196	-0.4664	10	0.87932	D	0	-1.2034	15.8132	0.78581	0.0:0.0:0.0:1.0	.	164	Q3I5F7	ACOT6_HUMAN	W	164	ENSP00000451464:L164W;ENSP00000370531:L164W	ENSP00000370531:L164W	L	+	2	0	ACOT6	73156163	0.313000	0.24554	0.004000	0.12327	0.001000	0.01503	3.656000	0.54467	2.131000	0.65755	0.459000	0.35465	TTG			0.448	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414437.1		NM_001037162		G	74086410	T	G	74086410	3	3	30	1	0	0	0	0	1	0	0	0	154	1821	63	4	497	4	ACOT6	14	74086410	Missense_Mutation	SNP	T	TCGA-2G-AAGI-01A-11D-A42Y-10	23837317	74086410	33263130	57	2107											
UBE3A	7337	broad.mit.edu	37	chr15	25584318	25584318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcctttggcatacgtgatgGccttcaacaatctctcttta	9	15	6	11	1	3	1	1	1	2	0	5	1	4	1	2	2	2	1	2	2	4	5			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr15:25584318G>T	ENST00000397954.2	-	11	2593	c.2594C>A	c.(2593-2595)gCc>gAc	p.A865D	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.A842D|SNHG14_ENST00000452731.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.A842D|UBE3A_ENST00000566215.1_Missense_Mutation_p.A842D|UBE3A_ENST00000232165.3_Missense_Mutation_p.A862D			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	865	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATACGTGATGGCCTTCAACAA	0.289																																					p.A865D													.	UBE3A	109		0			c.C2594A												94	86	89					15																	25584318		2203	4300	6503	SO:0001583	missense	7337	exon14			GTGATGGCCTTCA	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2594C>A	15.37:g.25584318G>T	ENSP00000381045:p.Ala865Asp		72	0.0138888889	1		57	0.05	3	NM_000462	43	0	0	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171605	0.94807	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	5.38	5.38	0.77491	HECT (4);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	H	0.99659	4.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99425	1.0934	10	0.87932	D	0	.	19.1347	0.93422	0.0:0.0:1.0:0.0	.	862;865	Q05086-3;Q05086	.;UBE3A_HUMAN	D	862;862;865;842;842	ENSP00000232165:A862D;ENSP00000381045:A865D;ENSP00000411258:A842D;ENSP00000401265:A842D	ENSP00000232165:A862D	A	-	2	0	UBE3A	23135411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.522000	0.85027	0.460000	0.39030	GCC			0.289	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000434203.1		NM_000462		T	25584318	G	T	25584318	3	4	30	1	0	0	0	0	1	0	0	0	16903	1203	42	2	37	2	UBE3A	15	25584318	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		25584318	76947074	58	2108											
SLCO3A1	28232	mdanderson.org	37	chr15	92647550	92647550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacccccgctggatcggaGcctggtggggtggctttctg	4	9	16	12	3	1	0	0	0	1	0	2	3	1	2	3	6	1	2	3	6	0	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr15:92647550G>T	ENST00000318445.6	+	4	1001	c.787G>T	c.(787-789)Gcc>Tcc	p.A263S	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.A263S|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	263					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)	CTGGATCGGAGCCTGGTGGGG	0.567																																					p.A263S													.	.			0			c.G787T												222	206	211					15																	92647550		2198	4298	6496	SO:0001583	missense	28232	exon4			ATCGGAGCCTGGT	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.787G>T	15.37:g.92647550G>T	ENSP00000320634:p.Ala263Ser		87	0	0		50	0.06	3	NM_013272	6	0	0	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990288	0.74589	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000556649	T;T	0.59364	0.27;0.27	5.12	5.12	0.69794	Major facilitator superfamily domain, general substrate transporter (1);	0.109676	0.64402	D	0.000008	D	0.83741	0.5320	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.88950	0.3386	10	0.72032	D	0.01	.	18.5528	0.91072	0.0:0.0:1.0:0.0	.	205;263;263	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	S	263;263;56	ENSP00000320634:A263S;ENSP00000387846:A263S	ENSP00000320634:A263S	A	+	1	0	SLCO3A1	90448554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.093000	0.94163	2.353000	0.79882	0.655000	0.94253	GCC			0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313529.1		NM_013272		T	92647550	G	T	92647550	3	4	30	1	0	0	0	0	1	0	0	0	14751	971	34	2	801	2	SLCO3A1	15	92647550	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	67063232	92647550	9883842	59	2109											
MCTP2	55784	mdanderson.org	37	chr15	94841503	94841503	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgcagccatggatctGgataaaccatctgtttgggg	9	12	11	9	0	3	0	1	0	2	0	3	2	3	2	2	4	3	2	2	4	2	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr15:94841503G>T	ENST00000357742.4	+	1	9	c.9G>T	c.(7-9)ctG>ctT	p.L3L	MCTP2_ENST00000543482.1_Silent_p.L3L|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.L3L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	3					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)			CCATGGATCTGGATAAACCAT	0.428																																					p.L3L													.	.			0			c.G9T												83	85	84					15																	94841503		2197	4298	6495	SO:0001819	synonymous_variant	55784	exon1			GGATCTGGATAAA	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.9G>T	15.37:g.94841503G>T			49	0.0204081633	1		31	0.1	3	NM_018349	2	0	0	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	CCDS32338.1																																																																																					0.428	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415060.3		NM_018349		T	94841503	G	T	94841503	2	4	30	1	0	0	0	0	0	0	0	1	9417	1335	47	3		3	MCTP2	15	94841503	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	2193953	94841503	7689889	60	2110											
ADAMTS17	170691	broad.mit.edu	37	chr15	100672218	100672218	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaggggacttacggggggTtgtcacatttcctctgcctg	5	12	14	10	1	3	0	2	0	1	0	4	1	4	1	2	5	2	1	2	5	1	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr15:100672218T>G	ENST00000268070.4	-	12	1820	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	572	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTACGGGGGGTTGTCACATTT	0.627											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N572T													.	ADAMTS17	127		0			c.A1715C												58	62	60					15																	100672218		2203	4300	6503	SO:0001583	missense	170691	exon12			GGGGGGTTGTCAC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1715A>C	15.37:g.100672218T>G	ENSP00000268070:p.Asn572Thr		83	0.1084337349	9	1353	86	0.29	25	NM_139057	0		0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407643	0.62399	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.53640	0.61	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.46885	1.475	0.58432	D	0.999999	P;P	0.47484	0.59;0.896	B;P	0.48952	0.264;0.596	T	0.55786	-0.8086	10	0.66056	D	0.02	.	15.1255	0.72481	0.0:0.0:0.0:1.0	.	329;572	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	T	572;329	ENSP00000268070:N572T	ENSP00000268070:N572T	N	-	2	0	ADAMTS17	98489741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.666000	0.68059	1.961000	0.56991	0.459000	0.35465	AAC			0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313595.1		NM_139057		G	100672218	T	G	100672218	3	3	30	1	0	0	0	0	1	0	0	0	262	1725	60	4	1616	4	ADAMTS17	15	100672218	Missense_Mutation	SNP	T	TCGA-2G-AAGI-01A-11D-A42Y-10	5830715	100672218	1859174	61	2111											
RHBDF1	64285	hgsc.bcm.edu	37	chr16	108513	108513	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgatctggcagcgtttccgGtacaggtcgaacttgccaaa	10	10	11	10	3	1	1	0	1	1	0	3	2	2	1	2	3	4	3	2	3	3	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr16:108513G>T	ENST00000262316.6	-	18	2536	c.2394C>A	c.(2392-2394)taC>taA	p.Y798*		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	798					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCGTTTCCGGTACAGGTCGA	0.552																																					p.Y798X													.	.			0			c.C2394A												148	160	156					16																	108513		2203	4300	6503	SO:0001587	stop_gained	64285	exon18			TTTCCGGTACAGG	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2394C>A	16.37:g.108513G>T	ENSP00000262316:p.Tyr798*		162	0	0		132	0.05	6	NM_022450	68	0	0	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Nonsense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.38|14.38	2.516723|2.516723	0.44763|0.44763	.|.	.|.	ENSG00000007384|ENSG00000007384	ENST00000448893|ENST00000262316	.|.	.|.	.|.	5.07|5.07	3.07|3.07	0.35406|0.35406	.|.	.|0.123361	.|0.56097	.|D	.|0.000024	T|.	0.29945|.	0.0749|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13899|.	-1.0492|.	4|.	.|0.02654	.|T	.|1	-33.4656|-33.4656	9.1715|9.1715	0.37083|0.37083	0.2447:0.0:0.7553:0.0|0.2447:0.0:0.7553:0.0	.|.	.|.	.|.	.|.	N|X	175|798	.|.	.|ENSP00000262316:Y798X	T|Y	-|-	2|3	0|2	RHBDF1|RHBDF1	48513|48513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.476000|0.476000	0.33039|0.33039	3.028000|3.028000	0.49705|0.49705	1.266000|1.266000	0.44231|0.44231	0.591000|0.591000	0.81541|0.81541	ACC|TAC			0.552	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000134178.2		NM_022450		T	108513	G	T	108513	4	4	30	1	0	0	0	0	0	1	0	0	13342	1256	44	3	177	3	RHBDF1	16	108513	Nonsense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		108513	90246240	62	2112											
NPRL3	8131	bcgsc.ca	37	chr16	139811	139811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcggacggggctcctcctcGctgggtgaggccatcaggca	5	6	16	14	4	1	1	1	1	0	0	4	2	3	2	3	6	0	3	3	6	0	0	rs534585670		TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr16:139811G>T	ENST00000399953.3	-	11	1653	c.1251C>A	c.(1249-1251)agC>agA	p.S417R	Z69720.2_ENST00000601483.1_RNA|NPRL3_ENST00000399951.3_Missense_Mutation_p.S238R|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	417					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						GCTCCTCCTCGCTGGGTGAGG	0.672																																					.													.	NPRL3	73		0			.												21	29	26					16																	139811		2177	4256	6433	SO:0001583	missense	8131	.			CTCCTCGCTGGGT		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.1251C>A	16.37:g.139811G>T	ENSP00000382834:p.Ser417Arg		61	0	0		70	0	0	.	44	0	0	D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37		.	.	.	.	.	.	.	.	.	.	G	10.61	1.397670	0.25205	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	4.95	-9.91	0.00458	.	0.312876	0.44097	N	0.000486	T	0.34048	0.0884	.	.	.	0.31222	N	0.697371	B;B;B;B	0.15930	0.015;0.012;0.002;0.001	B;B;B;B	0.13407	0.009;0.006;0.005;0.002	T	0.02301	-1.1180	8	0.27785	T	0.31	-37.0968	17.2449	0.87025	0.1835:0.0831:0.7334:0.0	.	339;392;392;417	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	R	417;392;238	.	ENSP00000262313:S392R	S	-	3	2	NPRL3	79811	0.000000	0.05858	0.100000	0.21137	0.926000	0.56050	-2.934000	0.00686	-2.890000	0.00315	-0.378000	0.06908	AGC			0.672	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001039476		T	139811	G	T	139811	3	4	30	1	0	0	0	0	1	0	0	0	10615	1078	38	1	469	1	NPRL3	16	139811	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	31298	139811	90214942	63	2113											
PKD1	5310	mdanderson.org	37	chr16	2158642	2158642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtaggtgacgcagtcgcGcaggtcaacgtgggcctcca	7	7	15	12	4	1	1	1	1	0	0	3	1	2	1	2	4	1	3	2	4	2	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr16:2158642G>T	ENST00000262304.4	-	15	6734	c.6526C>A	c.(6526-6528)Cgc>Agc	p.R2176S	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.R2176S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2176	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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						ACGCAGTCGCGCAGGTCAACG	0.706																																					p.R2176S													.	.			0			c.C6526A												25	19	21					16																	2158642		2147	4247	6394	SO:0001583	missense	5310	exon15			AGTCGCGCAGGTC	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.6526C>A	16.37:g.2158642G>T	ENSP00000262304:p.Arg2176Ser		61	0	0		48	0.06	3	NM_001009944	7	0	0	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	18.31	3.596559	0.66332	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.34667	1.35;1.35	5.49	5.49	0.81192	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.138163	0.53938	D	0.000048	T	0.56543	0.1992	L	0.53249	1.67	0.39962	D	0.974677	D;D	0.76494	0.999;0.995	D;D	0.72075	0.976;0.951	T	0.51505	-0.8697	10	0.33940	T	0.23	.	19.4518	0.94871	0.0:0.0:1.0:0.0	.	2176;2176	P98161-3;P98161	.;PKD1_HUMAN	S	2176;2176;1527;455	ENSP00000262304:R2176S;ENSP00000399501:R2176S	ENSP00000262304:R2176S	R	-	1	0	PKD1	2098643	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	6.614000	0.74197	2.597000	0.87782	0.544000	0.68410	CGC			0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341688.1				T	2158642	G	T	2158642	3	4	30	1	0	0	0	0	1	0	0	0	11980	1087	38	1	6513	1	PKD1	16	2158642	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	2018831	2158642	88196111	64	2114											
SMG1	23049	ucsc.edu;mdanderson.org	37	chr16	18846457	18846457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaactgacacactgttgggGgtggctggggagcatattgc	8	10	16	7	0	0	2	0	2	0	0	0	3	0	3	0	5	3	3	0	5	2	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr16:18846457G>T	ENST00000446231.2	-	49	8499	c.8087C>A	c.(8086-8088)cCc>cAc	p.P2696H	SMG1_ENST00000389467.3_Missense_Mutation_p.P2696H			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2696					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						CACTGTTGGGGGTGGCTGGGG	0.423																																					p.P2696H													.	SMG1	401		0			c.C8087A												84	83	83					16																	18846457		1905	4123	6028	SO:0001583	missense	23049	exon49			GTTGGGGGTGGCT	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.8087C>A	16.37:g.18846457G>T	ENSP00000402515:p.Pro2696His		74	0	0		54	0.09	5	NM_015092	26	0	0	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999947	0.74818	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01126	5.3;5.3	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.02083	0.0065	N	0.08118	0	0.48632	D	0.999685	D	0.69078	0.997	P	0.55545	0.778	T	0.72666	-0.4224	10	0.87932	D	0	.	19.9542	0.97213	0.0:0.0:1.0:0.0	.	2696	Q96Q15	SMG1_HUMAN	H	2696	ENSP00000402515:P2696H;ENSP00000374118:P2696H	ENSP00000374118:P2696H	P	-	2	0	SMG1	18753958	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	7.287000	0.78681	2.788000	0.95919	0.585000	0.79938	CCC			0.423	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000391817.1		NM_015092		T	18846457	G	T	18846457	3	4	30	1	0	0	0	0	1	0	0	0	14818	1232	43	3	2958	3	SMG1	16	18846457	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	16687815	18846457	71508296	65	2115											
SRCAP	10847	hgsc.bcm.edu;mdanderson.org	37	chr16	30732775	30732775	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcctcattctatctccCgatatgcaggctcgcctgcc	6	10	8	17	3	3	0	1	0	2	0	5	1	3	0	4	1	3	2	4	1	2	3	rs368322185		TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr16:30732775C>A	ENST00000262518.4	+	21	3904	c.3519C>A	c.(3517-3519)ccC>ccA	p.P1173P	SRCAP_ENST00000395059.2_Silent_p.P1173P|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1173	Pro-rich.				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)			TTCTATCTCCCGATATGCAGG	0.577																																					p.P1173P													SRCAP,NS,carcinoma,+2,1	SRCAP	2	1	0			c.C3519A												75	66	69					16																	30732775		2197	4300	6497	SO:0001819	synonymous_variant	10847	exon21			ATCTCCCGATATG	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.3519C>A	16.37:g.30732775C>A			56	0	0		29	0.07	2	NM_006662	37	0	0	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																					0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255523.1		NM_006662		A	30732775	C	A	30732775	2	1	30	1	0	0	0	0	0	0	0	1	15158	639	23	1		1	SRCAP	16	30732775	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	11886318	30732775	59621978	66	2116											
PELP1	27043	mdanderson.org	37	chr17	4594224	4594224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaagccaagacacacagtGctgctggaatagctctgtgg	11	7	12	11	1	1	1	0	0	1	1	1	3	1	2	2	2	4	3	2	2	4	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr17:4594224G>T	ENST00000574876.1	-	3	396	c.379C>A	c.(379-381)Cac>Aac	p.H127N	PELP1_ENST00000301396.4_Missense_Mutation_p.H127N|PELP1_ENST00000572293.1_Missense_Mutation_p.H177N|PELP1_ENST00000570823.1_5'UTR|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Missense_Mutation_p.H127N|PELP1_ENST00000436683.2_5'UTR			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	127					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GACACACAGTGCTGCTGGAAT	0.547																																					p.H127N													.	.			0			c.C379A												72	71	71					17																	4594224		1984	4157	6141	SO:0001583	missense	27043	exon3			CACAGTGCTGCTG		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.379C>A	17.37:g.4594224G>T	ENSP00000461625:p.His127Asn		97	0	0		108	0.05	5	NM_014389	142	0.01	1	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755304	0.49362	.	.	ENSG00000141456	ENST00000301396;ENST00000269230	T;T	0.68181	-0.31;-0.24	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	N	0.20986	0.625	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.68648	-0.5353	10	0.31617	T	0.26	-16.0346	15.9204	0.79562	0.0:0.0:1.0:0.0	.	127	Q8IZL8	PELP1_HUMAN	N	127	ENSP00000301396:H127N;ENSP00000269230:H127N	ENSP00000269230:H127N	H	-	1	0	AC091153.1	4540973	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.168000	0.71908	2.609000	0.88269	0.563000	0.77884	CAC			0.547	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000439140.2		NM_014389		T	4594224	G	T	4594224	3	4	30	1	0	0	0	0	1	0	0	0	11742	1319	46	2	3073	2	PELP1	17	4594224	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		4594224	76600986	67	2117											
AIPL1	23746	mdanderson.org	37	chr17	6328803	6328803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgctgcagcgagtgccctgGggacgggggtggctctgtgg	3	8	21	9	2	1	0	0	0	1	0	1	2	1	1	1	6	4	3	1	6	0	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr17:6328803G>T	ENST00000381129.3	-	6	1212	c.1132C>A	c.(1132-1134)Cca>Aca	p.P378T	AIPL1_ENST00000574506.1_Missense_Mutation_p.P366T|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000250087.5_Missense_Mutation_p.P315T|AIPL1_ENST00000576307.1_Missense_Mutation_p.P318T|AIPL1_ENST00000576776.1_Missense_Mutation_p.P354T|AIPL1_ENST00000570466.1_Missense_Mutation_p.P356T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	378					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GAGTGCCCTGGGGACGGgggt	0.662																																					p.P378T													.	.			0			c.C1132A												36	41	40					17																	6328803		2201	4292	6493	SO:0001583	missense	23746	exon6			GCCCTGGGGACGG	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.1132C>A	17.37:g.6328803G>T	ENSP00000370521:p.Pro378Thr		16	0	0		12	0.17	2	NM_014336	12	0	0	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	G	9.423	1.083421	0.20309	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087	D;D	0.87179	-2.22;-2.09	2.92	-0.494	0.12034	.	1.113130	0.07513	U	0.909258	T	0.71676	0.3368	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.26775	0.099;0.099;0.159;0.159;0.099	B;B;B;B;B	0.27500	0.026;0.026;0.058;0.08;0.026	T	0.60747	-0.7202	10	0.52906	T	0.07	.	3.3333	0.07092	0.2507:0.235:0.5143:0.0	.	354;356;315;318;378	Q659W3;Q659W4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	T	378;318;315	ENSP00000370521:P378T;ENSP00000250087:P315T	ENSP00000250087:P315T	P	-	1	0	AIPL1	6269527	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.155000	0.10115	-0.100000	0.12241	0.462000	0.41574	CCA			0.662	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000219828.3		NM_014336		T	6328803	G	T	6328803	3	4	30	1	0	0	0	0	1	0	0	0	436	1232	43	3	26	3	AIPL1	17	6328803	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	1734579	6328803	74866407	68	2118											
DRG2	1819	mdanderson.org	37	chr17	18002382	18002382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggaatcattgaaggcGcagcccaaggtgggaggcag	10	7	15	9	1	1	1	1	1	0	0	2	3	2	3	2	5	1	2	2	5	3	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr17:18002382G>A	ENST00000225729.3	+	4	505	c.367G>A	c.(367-369)Gca>Aca	p.A123T	DRG2_ENST00000395726.4_Missense_Mutation_p.A123T|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	123	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CATTGAAGGCGCAGCCCAAGG	0.547																																					p.A123T													.	.			0			c.G367A												97	94	95					17																	18002382		2203	4300	6503	SO:0001583	missense	1819	exon4			GAAGGCGCAGCCC	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"developmentally regulated GTP-binding protein 2"			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.367G>A	17.37:g.18002382G>A	ENSP00000225729:p.Ala123Thr		52	0	0		93	0.05	5	NM_001388	76	0	0	B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633383	0.67015	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.35048	1.33;1.33	5.05	5.05	0.67936	GTP1/OBG, conserved site (1);Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.993;1.0;1.0	D	0.83514	0.0082	10	0.87932	D	0	-43.3458	18.4054	0.90533	0.0:0.0:1.0:0.0	.	123;123;123	B4DIG2;A8MZF9;P55039	.;.;DRG2_HUMAN	T	123	ENSP00000379076:A123T;ENSP00000225729:A123T	ENSP00000225729:A123T	A	+	1	0	DRG2	17943107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.713000	0.98740	2.344000	0.79699	0.563000	0.77884	GCA			0.547	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132075.3		NM_001388		A	18002382	G	A	18002382	3	1	30	1	0	0	0	0	1	0	0	0	4767	1087	38	1	381	1	DRG2	17	18002382	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	11673579	18002382	63192828	69	2119											
MAPK7	5598	broad.mit.edu	37	chr17	19285118	19285118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcgcacccctggaggCtcctgagcctcggaagccgg	6	4	13	18	3	0	1	0	1	0	0	2	3	1	3	7	4	3	2	7	4	1	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr17:19285118C>A	ENST00000308406.5	+	5	1888	c.1502C>A	c.(1501-1503)gCt>gAt	p.A501D	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.A362D|MAPK7_ENST00000395604.3_Missense_Mutation_p.A501D|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A501D	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	501	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.A501D(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCCCTGGAGGCTCCTGAGCCT	0.672																																					p.A501D													MAPK7,NS,carcinoma,0,2	MAPK7	72	2	1	Substitution - Missense(1)	endometrium(1)	c.C1502A												10	17	15					17																	19285118		2162	4232	6394	SO:0001583	missense	5598	exon5			TGGAGGCTCCTGA	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1502C>A	17.37:g.19285118C>A	ENSP00000311005:p.Ala501Asp		66	0.0151515152	1		72	0.08	6	NM_002749	68	0.18	12	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248312	0.59103	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.74209	-0.57;-0.82;-0.57;-0.57	4.36	3.39	0.38822	.	0.278335	0.34291	N	0.004097	T	0.62792	0.2457	N	0.22421	0.69	0.33339	D	0.569546	P	0.50943	0.94	P	0.47299	0.543	T	0.71846	-0.4469	10	0.87932	D	0	-7.5638	6.6062	0.22726	0.0:0.7883:0.0:0.2117	.	501	Q13164	MK07_HUMAN	D	501;362;501;501	ENSP00000311005:A501D;ENSP00000299612:A362D;ENSP00000378968:A501D;ENSP00000378966:A501D	ENSP00000299612:A362D	A	+	2	0	MAPK7	19225711	0.988000	0.35896	0.980000	0.43619	0.970000	0.65996	1.704000	0.37857	1.055000	0.40461	0.561000	0.74099	GCT			0.672	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132506.1		NM_139033		A	19285118	C	A	19285118	3	1	30	1	0	0	0	0	1	0	0	0	9298	797	28	2	1516	2	MAPK7	17	19285118	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	1282736	19285118	61910092	70	2120											
PIPOX	51268	broad.mit.edu	37	chr17	27380007	27380007	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatccaggccaatctgtcGaggcagagggtagaacacca	14	5	11	11	1	1	2	0	0	1	2	3	3	2	2	3	3	1	2	3	3	4	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr17:27380007G>T	ENST00000323372.4	+	3	659	c.333G>T	c.(331-333)tcG>tcT	p.S111S	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	111					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CCAATCTGTCGAGGCAGAGGG	0.458																																					p.S111S													.	PIPOX	42		0			c.G333T												94	89	91					17																	27380007		2203	4300	6503	SO:0001819	synonymous_variant	51268	exon3			TCTGTCGAGGCAG	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.333G>T	17.37:g.27380007G>T			145	0	0		219	0.03	6	NM_016518	31	0	0	B3KNH0|Q96H28|Q9C070	Silent	SNP	ENST00000323372.4	37	CCDS11248.1																																																																																					0.458	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255954.1		NM_016518		T	27380007	G	T	27380007	2	4	30	1	0	0	0	0	0	0	0	1	11960	1045	37	1		1	PIPOX	17	27380007	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	8094889	27380007	53815203	71	2121											
PLEKHM1	9842	bcgsc.ca	37	chr17	43522989	43522989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaggttgatgaggggctggGcccggatctgtgtcagaaac	8	8	17	8	1	2	3	1	2	1	1	2	4	2	4	1	5	1	3	1	5	1	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr17:43522989G>A	ENST00000430334.3	-	9	2817	c.2684C>T	c.(2683-2685)gCc>gTc	p.A895V	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A806V|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	895					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGGGGCTGGGCCCGGATCTG	0.597																																					p.A895V													.	PLEKHM1	69		0			c.C2684T												64	61	62					17																	43522989		2200	4300	6500	SO:0001583	missense	9842	exon9			GGCTGGGCCCGGA	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2684C>T	17.37:g.43522989G>A	ENSP00000389913:p.Ala895Val		118	0	0		151	0	0	NM_014798	28	0	0	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003887	0.35320	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.64085	-0.08;-0.08	4.59	1.29	0.21616	.	0.606178	0.17478	N	0.172828	T	0.43722	0.1260	L	0.34521	1.04	0.25376	N	0.988656	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.23655	-1.0182	10	0.38643	T	0.18	.	4.2158	0.10533	0.1878:0.0:0.5629:0.2493	.	806;895	F8W648;Q9Y4G2	.;PKHM1_HUMAN	V	895;844;806	ENSP00000389913:A895V;ENSP00000414352:A806V	ENSP00000414352:A806V	A	-	2	0	PLEKHM1	40878772	0.413000	0.25400	1.000000	0.80357	0.987000	0.75469	2.116000	0.41930	0.654000	0.30846	-0.663000	0.03849	GCC			0.597	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444659.1		NM_014798		A	43522989	G	A	43522989	3	1	30	1	0	0	0	0	1	0	0	0	12097	1203	42	2	502	2	PLEKHM1	17	43522989	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	16142982	43522989	37672221	72	2122											
RGS9	8787	mdanderson.org	37	chr17	63133690	63133690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccaaggccagcagtacaGgccgaggatggcatttctcc	11	6	11	13	1	1	0	0	0	1	0	2	2	1	1	4	4	2	3	4	4	2	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr17:63133690G>T	ENST00000262406.9	+	1	99	c.32G>T	c.(31-33)aGg>aTg	p.R11M	RGS9_ENST00000449996.3_Missense_Mutation_p.R11M|RGS9_ENST00000443584.3_Missense_Mutation_p.R11M	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	11					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CAGCAGTACAGGCCGAGGATG	0.617																																					p.R11M													.	.			0			c.G32T												54	58	57					17																	63133690		1956	4134	6090	SO:0001583	missense	8787	exon1			AGTACAGGCCGAG	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.32G>T	17.37:g.63133690G>T	ENSP00000262406:p.Arg11Met		48	0	0		56	0.05	3	NM_001081955	8	0.13	1	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916450	0.33815	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T;T	0.36340	1.3;1.26;1.28	4.01	4.01	0.46588	.	0.055982	0.64402	D	0.000002	T	0.56470	0.1987	M	0.70275	2.135	0.39764	D	0.972072	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.991;0.982;0.992	T	0.62789	-0.6780	10	0.87932	D	0	.	11.8004	0.52124	0.0:0.0:1.0:0.0	.	11;11;11	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	M	11	ENSP00000262406:R11M;ENSP00000396329:R11M;ENSP00000405814:R11M	ENSP00000262406:R11M	R	+	2	0	RGS9	60564152	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.559000	0.60796	2.229000	0.72834	0.313000	0.20887	AGG			0.617	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000445885.1		NM_003835		T	63133690	G	T	63133690	3	4	30	1	0	0	0	0	1	0	0	0	13336	1000	35	3	34	3	RGS9	17	63133690	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	19610701	63133690	18061520	73	2123											
PRPSAP1	5635	mdanderson.org	37	chr17	74349755	74349755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccgaggacgcggagggCgggggcaacagcagcagctt	11	2	18	10	4	0	0	0	0	0	0	0	3	0	2	1	5	5	4	1	5	2	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr17:74349755C>T	ENST00000446526.3	-	1	475	c.30G>A	c.(28-30)ccG>ccA	p.P10P	PRPSAP1_ENST00000324684.4_Intron	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	0					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ACGCGGAGGGCGGGGGCAACA	0.736																																					p.P10P													.	.			0			c.G30A												4	8	7					17																	74349755		636	1523	2159	SO:0001819	synonymous_variant	5635	exon1			GGAGGGCGGGGGC	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.30G>A	17.37:g.74349755C>T			25	0	0		34	0.09	3	NM_002766	18	0	0	B2R6M4|Q96H06	Silent	SNP	ENST00000446526.3	37	CCDS11743.2																																																																																					0.736	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342480.2		NM_002766		T	74349755	C	T	74349755	2	4	30	1	0	0	0	0	0	0	0	1	12601	755	27	1		1	PRPSAP1	17	74349755	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	11216065	74349755	6845455	74	2124											
DSG2	1829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr18	29122743	29122743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggccacaggggcttcCagagacatggccggagctca	10	4	15	12	1	1	1	1	0	0	1	2	3	2	2	3	5	1	3	3	5	1	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr18:29122743C>T	ENST00000261590.8	+	14	2471	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	754					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAGGGGCTTCCAGAGACATGG	0.498																																					p.S754S													DSG2,NS,malignant_melanoma,+1,2	DSG2	1	2	0			c.C2262T												78	86	83					18																	29122743		2046	4201	6247	SO:0001819	synonymous_variant	1829	exon14			GGCTTCCAGAGAC	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2262C>T	18.37:g.29122743C>T			115	0	0		88	0.4	35	NM_001943	138	0.42	58	Q4KKU6	Silent	SNP	ENST00000261590.8	37	CCDS42423.1																																																																																					0.498	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447506.1		NM_001943		T	29122743	C	T	29122743	2	4	30	1	0	0	0	0	0	0	0	1	4782	581	21	3		3	DSG2	18	29122743	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10		29122743	48954505	75	2125											
KIAA1468	57614	mdanderson.org	37	chr18	59854893	59854893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcctagatcctggctctgCgggctcgctgtcgccacagg	4	9	14	14	3	1	1	0	0	1	1	4	1	2	1	3	4	1	3	3	4	1	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr18:59854893C>T	ENST00000398130.2	+	1	387	c.155C>T	c.(154-156)gCg>gTg	p.A52V	PIGN_ENST00000400334.3_5'Flank|PIGN_ENST00000357637.5_5'Flank|PIGN_ENST00000593225.1_5'Flank|KIAA1468_ENST00000256858.6_Missense_Mutation_p.A52V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	52										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)				CCTGGCTCTGCGGGCTCGCTG	0.682																																					p.A52V													.	.			0			c.C155T												51	62	58					18																	59854893		2002	4154	6156	SO:0001583	missense	57614	exon1			GCTCTGCGGGCTC	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.155C>T	18.37:g.59854893C>T	ENSP00000381198:p.Ala52Val		77	0	0		49	0.06	3	NM_020854	6	0	0		Missense_Mutation	SNP	ENST00000398130.2	37	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938735	0.52972	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.46063	0.88;0.88	4.98	3.0	0.34707	.	0.455677	0.19256	U	0.118803	T	0.23370	0.0565	N	0.14661	0.345	0.32910	D	0.514367	B;B	0.13145	0.007;0.006	B;B	0.12837	0.002;0.008	T	0.23368	-1.0190	9	.	.	.	-1.6773	10.0122	0.41992	0.0:0.7554:0.1507:0.0939	.	52;52	Q9P260-2;Q9P260	.;K1468_HUMAN	V	52	ENSP00000381198:A52V;ENSP00000256858:A52V	.	A	+	2	0	KIAA1468	58005873	0.951000	0.32395	0.999000	0.59377	0.830000	0.47004	1.919000	0.40015	1.228000	0.43614	0.655000	0.94253	GCG			0.682	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256187.1		NM_020854		T	59854893	C	T	59854893	3	4	30	1	0	0	0	0	1	0	0	0	8251	768	27	1	157	1	KIAA1468	18	59854893	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	30732150	59854893	18222355	76	2126											
DIRAS1	148252	mdanderson.org	37	chr19	2717599	2717599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacaggcgctgcatggccGggaactggtggctgccggtg	5	7	19	10	3	0	0	0	0	0	0	0	2	0	2	2	7	3	3	2	7	1	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr19:2717599G>A	ENST00000323469.4	-	2	389	c.206C>T	c.(205-207)cCg>cTg	p.P69L	DIRAS1_ENST00000585334.1_Missense_Mutation_p.P69L	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	69					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CTGCATGGCCGGGAACTGGTG	0.622																																					p.P69L													DIRAS1,bladder,carcinoma,0,1	DIRAS1	0	1	0			c.C206T												77	63	68					19																	2717599		2203	4299	6502	SO:0001583	missense	148252	exon2			ATGGCCGGGAACT	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.206C>T	19.37:g.2717599G>A	ENSP00000325836:p.Pro69Leu		60	0	0		64	0.05	3	NM_145173	12	0	0		Missense_Mutation	SNP	ENST00000323469.4	37	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459820	0.84317	.	.	ENSG00000176490	ENST00000323469	T	0.76316	-1.01	4.07	4.07	0.47477	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80633	0.4660	L	0.28115	0.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83206	-0.0076	10	0.72032	D	0.01	.	13.7485	0.62890	0.0:0.0:1.0:0.0	.	69	O95057	DIRA1_HUMAN	L	69	ENSP00000325836:P69L	ENSP00000325836:P69L	P	-	2	0	DIRAS1	2668599	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.502000	0.97981	1.813000	0.52934	0.549000	0.68633	CCG			0.622	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451350.1				A	2717599	G	A	2717599	3	1	30	1	0	0	0	0	1	0	0	0	4535	1116	39	1	394	1	DIRAS1	19	2717599	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		2717599	56411384	77	2127											
DOHH	83475	broad.mit.edu	37	chr19	3496745	3496745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaacagcgcccggaagcggGcctgcaggggctgcttgggg	6	5	19	11	3	0	1	0	1	0	0	0	2	0	2	2	6	5	3	2	6	2	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr19:3496745G>T	ENST00000427575.1	-	2	519	c.68C>A	c.(67-69)gCc>gAc	p.A23D	DOHH_ENST00000250937.3_Missense_Mutation_p.A23D	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGAAGCGGGCCTGCAGGGG	0.672																																					p.A23D													.	DOHH	12		0			c.C68A												30	34	33					19																	3496745		2203	4299	6502	SO:0001583	missense	83475	exon2			AAGCGGGCCTGCA	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"HEAT-like (PBS lyase) repeat containing 1"	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.68C>A	19.37:g.3496745G>T	ENSP00000398882:p.Ala23Asp		44	0	0		61	0.11	7	NM_001145165	50	0.06	3		Missense_Mutation	SNP	ENST00000427575.1	37	CCDS12108.1	.	.	.	.	.	.	.	.	.	.	G	6.366	0.435651	0.12104	.	.	ENSG00000129932	ENST00000427575;ENST00000250937	.	.	.	4.28	4.28	0.50868	Armadillo-like helical (1);	0.572614	0.17864	N	0.159432	T	0.30324	0.0761	L	0.45352	1.415	0.26414	N	0.97622	B	0.06786	0.001	B	0.08055	0.003	T	0.16364	-1.0405	9	0.12766	T	0.61	-7.5811	8.1479	0.31124	0.1119:0.0:0.8881:0.0	.	23	Q9BU89	DOHH_HUMAN	D	23	.	ENSP00000250937:A23D	A	-	2	0	DOHH	3447745	0.999000	0.42202	1.000000	0.80357	0.689000	0.40095	4.666000	0.61554	1.947000	0.56498	0.561000	0.74099	GCC			0.672	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452932.1		NM_031304		T	3496745	G	T	3496745	3	4	30	1	0	0	0	0	1	0	0	0	4700	1203	42	2	856	2	DOHH	19	3496745	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	779146	3496745	55632238	78	2128											
CACNA1A	773	mdanderson.org	37	chr19	13318657	13318657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgctggtggccgcccggcCcggcctggccaccgcctgct	1	5	15	20	5	0	0	0	0	0	0	0	0	0	0	8	5	1	2	8	5	0	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr19:13318657C>A	ENST00000360228.5	-	47	6990	c.6991G>T	c.(6991-6993)Ggc>Tgc	p.G2331C	CACNA1A_ENST00000573710.2_3'UTR	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	2330					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)	GCCGCCCGGCCCGGCCTGGCC	0.766																																					p.G2331C													.	.			0			c.G6991T												1	1	1					19																	13318657		311	838	1149	SO:0001583	missense	773	exon47			CCCGGCCCGGCCT	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.6991G>T	19.37:g.13318657C>A	ENSP00000353362:p.Gly2331Cys		8	0	0		13	0.31	4	NM_001127222	0		0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	c	3.620	-0.077761	0.07184	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.95756	-3.8	2.95	0.278	0.15673	.	0.071793	0.08080	U	1.000000	D	0.86636	0.5980	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.76490	-0.2940	10	0.48119	T	0.1	.	2.3369	0.04250	0.219:0.501:0.1454:0.1346	.	2337;2331;2320	E9PD31;Q9NS88;E7EVF2	.;.;.	C	2331;2337;2320	ENSP00000353362:G2331C	ENSP00000349520:G2320C	G	-	1	0	CACNA1A	13179657	0.008000	0.16893	0.212000	0.23672	0.933000	0.57130	0.128000	0.15810	0.222000	0.20900	0.281000	0.19383	GGC			0.766	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104062.2		NM_000068		A	13318657	C	A	13318657	3	1	30	1	0	0	0	0	1	0	0	0	2540	623	22	3	533	3	CACNA1A	19	13318657	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	9821912	13318657	45810326	79	2129											
LRP3	4037	mdanderson.org	37	chr19	33697230	33697230	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcatcgcgctgggctgCgccttcaagctctactcact	5	11	10	15	3	4	0	3	0	1	0	5	0	4	0	1	2	3	3	1	2	2	2	rs139510018		TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr19:33697230C>T	ENST00000253193.7	+	5	1756	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	518					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CGCTGGGCTGCGCCTTCAAGC	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		16461	0		0	False		,,,				2504	0				p.C518C													.	.			0			c.C1554T							C		0,4404		0,0,2202	20	21	21		1554	-0.5	1	19	dbSNP_134	21	1,8593		0,1,4296	no	coding-synonymous	LRP3	NM_002333.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		518/771	33697230	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	4037	exon5			GGGCTGCGCCTTC	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1554C>T	19.37:g.33697230C>T			39	0	0		47	0.06	3	NM_002333	102	0	0	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																			0.001		0.672	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450842.4				T	33697230	C	T	33697230	2	4	30	1	0	0	0	0	0	0	0	1	8974	776	27	1		1	LRP3	19	33697230	Silent	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10	20378573	33697230	25431753	80	2130											
U2AF1L4	199746	mdanderson.org	37	chr19	36233689	36233689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggggatggtggccagtatgGaacctcgggggtgacctggg	6	7	20	8	2	0	1	0	1	0	0	1	3	0	3	3	8	1	1	3	8	2	1	rs187720109		TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr19:36233689G>T	ENST00000412391.2	-	8	607	c.594C>A	c.(592-594)ttC>ttA	p.F198L	IGFLR1_ENST00000592889.1_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|IGFLR1_ENST00000587101.1_5'Flank|IGFLR1_ENST00000344990.3_5'Flank|PSENEN_ENST00000222266.2_5'Flank|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.F159L|IGFLR1_ENST00000592537.1_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.S140Y|PSENEN_ENST00000591949.1_5'Flank|AD000671.6_ENST00000589807.1_Intron|IGFLR1_ENST00000588992.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|PSENEN_ENST00000587708.2_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	198					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	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)			GGCCAGTATGGAACCTCGGGG	0.607																																					p.F159L													.	.			0			c.C477A												67	74	72					19																	36233689		2203	4300	6503	SO:0001583	missense	199746	exon6			AGTATGGAACCTC	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"RNA binding motif (RRM) containing"	23020	protein-coding gene	gene with protein product		601080	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 3", "U2 small nuclear RNA auxiliary factor 1-like 3"	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.594C>A	19.37:g.36233689G>T	ENSP00000397645:p.Phe198Leu		30	0	0		21	0.14	3	NM_001040425	41	0	0	A6NKI8|Q56UU3	Missense_Mutation	SNP	ENST00000412391.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.009|1.009	-0.688508|-0.688508	0.03328|0.03328	.|.	.|.	ENSG00000161265|ENSG00000161265	ENST00000378975;ENST00000412391|ENST00000292879	.|.	.|.	.|.	4.71|4.71	-4.35|-4.35	0.03656|0.03656	.|.	.|1.434550	.|0.04238	.|N	.|0.336519	T|T	0.28366|0.28366	0.0701|0.0701	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|P	0.06786|0.36249	0.001|0.545	B|B	0.12156|0.38755	0.007|0.281	T|T	0.44877|0.44877	-0.9299|-0.9299	7|8	0.10902|0.72032	T|D	0.67|0.01	-0.2383|-0.2383	5.9639|5.9639	0.19315|0.19315	0.5366:0.1454:0.3181:0.0|0.5366:0.1454:0.3181:0.0	.|.	159|140	Q8WU68-3|Q8WU68-2	.|.	L|Y	159;198|140	.|.	ENSP00000368258:F159L|ENSP00000292879:S140Y	F|S	-|-	3|2	2|0	U2AF1L4|U2AF1L4	40925529|40925529	0.345000|0.345000	0.24835|0.24835	0.465000|0.465000	0.27155|0.27155	0.002000|0.002000	0.02628|0.02628	0.112000|0.112000	0.15479|0.15479	-0.228000|-0.228000	0.09869|0.09869	-0.251000|-0.251000	0.11542|0.11542	TTC|TCC			0.607	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_144987		T	36233689	G	T	36233689	3	4	30	1	0	0	0	0	1	0	0	0	16846	1174	41	3	193	3	U2AF1L4	19	36233689	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	2536459	36233689	22895294	81	2131											
RYR1	6261	bcgsc.ca	37	chr19	38948767	38948767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtactttgaggtgatggtgGacgaggtgactccatttctg	7	13	15	6	1	1	3	0	3	1	0	2	5	2	4	1	5	1	1	1	5	1	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr19:38948767G>T	ENST00000359596.3	+	18	2002	c.2002G>T	c.(2002-2004)Gac>Tac	p.D668Y	RYR1_ENST00000355481.4_Missense_Mutation_p.D668Y|RYR1_ENST00000360985.3_Missense_Mutation_p.D668Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	668	B30.2/SPRY 1. {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)	GGTGATGGTGGACGAGGTGAC	0.632																																					p.D668Y													.	RYR1	708		0			c.G2002T												84	71	75					19																	38948767		2203	4300	6503	SO:0001583	missense	6261	exon18			ATGGTGGACGAGG	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.2002G>T	19.37:g.38948767G>T	ENSP00000352608:p.Asp668Tyr		91	0	0		76	0	0	NM_001042723	0		0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489336	0.64074	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70986	-0.53;-0.53;-0.53	4.85	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000001	D	0.86351	0.5912	M	0.87547	2.89	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88861	0.3326	10	0.87932	D	0	.	17.8062	0.88601	0.0:0.0:1.0:0.0	.	668;668	P21817-2;P21817	.;RYR1_HUMAN	Y	668	ENSP00000352608:D668Y;ENSP00000347667:D668Y;ENSP00000354254:D668Y	ENSP00000347667:D668Y	D	+	1	0	RYR1	43640607	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.657000	0.98554	2.540000	0.85666	0.549000	0.68633	GAC			0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462137.1				T	38948767	G	T	38948767	3	4	30	1	0	0	0	0	1	0	0	0	13791	1174	41	3	2072	3	RYR1	19	38948767	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	2715078	38948767	20180216	82	2132											
ASXL1	171023	broad.mit.edu;mdanderson.org	37	chr20	31017716	31017716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcagggttctcgggctGccacgccgatggcgagagcg	5	7	16	13	5	2	1	1	0	1	1	3	3	2	1	3	3	2	2	3	3	0	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr20:31017716G>A	ENST00000375687.4	+	8	1002	c.578G>A	c.(577-579)tGc>tAc	p.C193Y	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000306058.5_Missense_Mutation_p.C188Y	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	193	Interaction with KDM1A. {ECO:0000250}.				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						TTCTCGGGCTGCCACGCCGAT	0.642			"F, N, Mis"		"MDS, CMML"																																p.C193Y				Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	ASXL1	1114		0			c.G578A												24	30	28					20																	31017716		2079	4106	6185	SO:0001583	missense	171023	exon7			CGGGCTGCCACGC	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.578G>A	20.37:g.31017716G>A	ENSP00000364839:p.Cys193Tyr		32	0	0		35	0.09	3	NM_015338	20	0	0	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172676	0.38413	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000306058	T;T	0.13778	2.56;2.56	4.89	3.92	0.45320	.	0.312987	0.25645	N	0.029254	T	0.06690	0.0171	N	0.08118	0	0.27210	N	0.959938	B	0.09022	0.002	B	0.01281	0.0	T	0.19877	-1.0292	10	0.45353	T	0.12	-5.4605	7.4887	0.27449	0.085:0.0:0.7473:0.1677	.	193	Q8IXJ9	ASXL1_HUMAN	Y	193;193;193;188	ENSP00000364839:C193Y;ENSP00000305119:C188Y	ENSP00000305119:C188Y	C	+	2	0	ASXL1	30481377	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.104000	0.57790	1.397000	0.46682	0.655000	0.94253	TGC			0.642	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078624.2		NM_015338		A	31017716	G	A	31017716	3	1	30	1	0	0	0	0	1	0	0	0	1066	1319	46	2	614	2	ASXL1	20	31017716	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		31017716	32007804	83	2133											
UMODL1	89766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr21	43531009	43531009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacctggtgagccccatGggcggtggactgtctgcggc	4	8	18	11	2	1	2	0	2	1	0	1	3	1	3	3	6	2	0	3	6	0	0	rs200274014		TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr21:43531009G>A	ENST00000408910.2	+	11	1677	c.1677G>A	c.(1675-1677)atG>atA	p.M559I	C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Missense_Mutation_p.M487I|UMODL1_ENST00000400424.2_Missense_Mutation_p.M487I|UMODL1_ENST00000408989.2_Missense_Mutation_p.M559I	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	559			M -> T (in dbSNP:rs220126). {ECO:0000269|PubMed:15194491, ECO:0000269|PubMed:16026467}.		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						TGAGCCCCATGGGCGGTGGAC	0.632																																					p.M559I	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												.	.			0			c.G1677A																																									SO:0001583	missense	89766	exon11			CCCCATGGGCGGT		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.1677G>A	21.37:g.43531009G>A	ENSP00000386147:p.Met559Ile		182	0	0		307	0.24	74	NM_173568	0		0	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490150	0.12702	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.70516	-0.48;-0.49;-0.48;-0.49	3.7	-7.41	0.01392	.	0.642001	0.12970	N	0.424186	T	0.43389	0.1245	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.15052	0.012;0.0	T	0.26643	-1.0097	10	0.66056	D	0.02	-0.9973	8.8428	0.35153	0.4946:0.3748:0.1306:0.0	.	559;559	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	I	487;487;559;559	ENSP00000383279:M487I;ENSP00000383276:M487I;ENSP00000386126:M559I;ENSP00000386147:M559I	ENSP00000383276:M487I	M	+	3	0	UMODL1	42404078	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.158000	0.01281	-3.017000	0.00271	-1.741000	0.00685	ATG			0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195292.2				A	43531009	G	A	43531009	3	1	30	1	0	0	0	0	1	0	0	0	17004	1348	47	3	1719	3	UMODL1	21	43531009	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		43531009	4598886	84	2134											
SLC37A1	54020	bcgsc.ca	37	chr21	43999906	43999906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagctacgggggaccaaGttccgtaagtcccactcggg	8	7	14	12	3	1	0	1	0	0	0	4	1	3	1	3	4	2	3	3	4	3	3			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr21:43999906G>A	ENST00000352133.2	+	19	2564	c.1582G>A	c.(1582-1584)Gtt>Att	p.V528I	SLC37A1_ENST00000398341.3_Missense_Mutation_p.V528I			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	528					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGGGGACCAAGTTCCGTAAGT	0.567																																					p.V528I													.	SLC37A1	48		0			c.G1582A												66	53	58					21																	43999906		2203	4300	6503	SO:0001583	missense	54020	exon20			GACCAAGTTCCGT	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.1582G>A	21.37:g.43999906G>A	ENSP00000344648:p.Val528Ile		42	0	0		105	0	0	NM_018964	58	0	0	D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432987	0.25813	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.22743	1.94;1.94	4.86	2.89	0.33648	.	0.317898	0.27831	N	0.017672	T	0.16300	0.0392	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18524	-1.0334	10	0.21014	T	0.42	-5.5118	11.8725	0.52529	0.0:0.3353:0.6647:0.0	.	528	P57057	GLPT_HUMAN	I	528	ENSP00000381383:V528I;ENSP00000344648:V528I	ENSP00000344648:V528I	V	+	1	0	SLC37A1	42872975	0.910000	0.30920	0.485000	0.27403	0.677000	0.39632	1.350000	0.34010	1.154000	0.42482	0.462000	0.41574	GTT			0.567	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195377.1				A	43999906	G	A	43999906	3	1	30	1	0	0	0	0	1	0	0	0	14620	1029	36	3	1652	3	SLC37A1	21	43999906	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	468897	43999906	4129989	85	2135											
LRP5L	91355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr22	25755835	25755835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcacggggctcgtccatGtcctctgacaccaggatctt	7	10	11	13	2	2	1	0	1	2	0	5	2	4	2	3	4	0	2	3	4	0	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr22:25755835G>A	ENST00000402785.2	-	1	321	c.225C>T	c.(223-225)gaC>gaT	p.D75D	LRP5L_ENST00000402859.2_Silent_p.D75D|LRP5L_ENST00000444995.3_Silent_p.D75D			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	75					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCTCGTCCATGTCCTCTGACA	0.622																																					p.D75D													.	.			0			c.C225T												170	143	152					22																	25755835		2200	4300	6500	SO:0001819	synonymous_variant	91355	exon3			GTCCATGTCCTCT	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.225C>T	22.37:g.25755835G>A			163	0	0		122	0.58	71	NM_001135772	11	0.91	10	B0QYF3|B0QYF4|B2RPI5	Silent	SNP	ENST00000402785.2	37	CCDS33626.1																																																																																					0.622	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320477.2		NM_182492		A	25755835	G	A	25755835	2	1	30	1	0	0	0	0	0	0	0	1	8977	1368	48	3		3	LRP5L	22	25755835	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10		25755835	25548731	86	2136											
SYN3	8224	mdanderson.org	37	chr22	33265025	33265025	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagccctccatactgcagGccgatgaccaggctgcggta	8	6	13	14	2	0	1	0	1	0	0	1	2	1	1	4	4	4	4	4	4	2	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr22:33265025G>T	ENST00000358763.2	-	5	791	c.549C>A	c.(547-549)ggC>ggA	p.G183G	SYN3_ENST00000332840.5_Silent_p.G183G	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	183	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CATACTGCAGGCCGATGACCA	0.592																																					p.G183G													.	.			0			c.C549A												74	58	64					22																	33265025		2203	4300	6503	SO:0001819	synonymous_variant	8224	exon4			CTGCAGGCCGATG	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.549C>A	22.37:g.33265025G>T			95	0	0		49	0.06	3	NM_003490	2	0	0	B1B1F9	Silent	SNP	ENST00000358763.2	37	CCDS13908.1																																																																																					0.592	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075892.4				T	33265025	G	T	33265025	2	4	30	1	0	0	0	0	0	0	0	1	15465	1190	42	2		2	SYN3	22	33265025	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	7509190	33265025	18039541	87	2137											
KCTD17	79734	mdanderson.org	37	chr22	37456899	37456899	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggaggagcagcagcagcagGaggaggaggtggaggaggtg	11	3	23	4	0	0	0	0	0	0	0	0	7	0	7	0	9	4	4	0	9	0	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr22:37456899G>C	ENST00000403888.3	+	6	671	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	KCTD17_ENST00000402077.3_Missense_Mutation_p.E224Q	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	224					protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						gcagcagcaggaggaggaggt	0.612																																					p.E224Q													.	.			0			c.G670C												160	136	145					22																	37456899		1327	2309	3636	SO:0001583	missense	79734	exon6			CAGCAGGAGGAGG	BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 17"			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.670G>C	22.37:g.37456899G>C	ENSP00000385096:p.Glu224Gln		46	0	0		54	0.06	3	NM_024681	1	1	1	B0QYA9|B0QYB0|O95517	Missense_Mutation	SNP	ENST00000403888.3	37		.	.	.	.	.	.	.	.	.	.	G	11.84	1.759761	0.31137	.	.	ENSG00000100379	ENST00000402077;ENST00000403888	T;T	0.48522	0.91;0.81	2.94	2.94	0.34122	.	2.803690	0.01969	U	0.043922	T	0.34890	0.0913	N	0.12182	0.205	0.22401	N	0.999139	B;B	0.12630	0.006;0.003	B;B	0.06405	0.001;0.002	T	0.25745	-1.0123	10	0.52906	T	0.07	.	9.6457	0.39865	0.0:0.0:1.0:0.0	.	224;224	Q8N5Z5-2;Q8N5Z5	.;KCD17_HUMAN	Q	224	ENSP00000384391:E224Q;ENSP00000385096:E224Q	ENSP00000384391:E224Q	E	+	1	0	KCTD17	35786845	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.921000	0.28718	1.344000	0.45657	0.455000	0.32223	GAG			0.612	KCTD17-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000318781.1		NM_024681		C	37456899	G	C	37456899	3	2	30	1	0	0	0	0	1	0	0	0	8119	1175	41	5	692	5	KCTD17	22	37456899	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	4191874	37456899	13847667	88	2138											
TTC38	55020	mdanderson.org	37	chr22	46664423	46664423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtaggcctggaaggatGcgaggctcccgctctccacc	6	8	13	14	2	2	0	0	0	2	0	4	3	3	2	4	4	1	3	4	4	2	1			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chr22:46664423G>T	ENST00000381031.3	+	2	122	c.46G>T	c.(46-48)Gcg>Tcg	p.A16S	TTC38_ENST00000445282.2_Missense_Mutation_p.A16S	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	16						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CTGGAAGGATGCGAGGCTCCC	0.607																																					p.A16S													.	.			0			c.G46T												40	50	47					22																	46664423		2187	4286	6473	SO:0001583	missense	55020	exon2			AAGGATGCGAGGC		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.46G>T	22.37:g.46664423G>T	ENSP00000370419:p.Ala16Ser		82	0.012195122	1		66	0.06	4	NM_017931	30	0	0	Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004997	0.74932	.	.	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	D;D;D	0.82893	-1.66;-1.66;-1.66	5.13	5.13	0.70059	.	0.163700	0.53938	D	0.000060	D	0.83445	0.5256	M	0.72894	2.215	0.51012	D	0.999904	B;B	0.32918	0.39;0.11	B;B	0.38755	0.281;0.108	T	0.79862	-0.1624	10	0.12766	T	0.61	-4.1522	17.9252	0.88982	0.0:0.0:1.0:0.0	.	16;16	E7ES35;Q5R3I4	.;TTC38_HUMAN	S	16	ENSP00000370419:A16S;ENSP00000393960:A16S;ENSP00000410095:A16S	ENSP00000370419:A16S	A	+	1	0	TTC38	45043087	1.000000	0.71417	0.990000	0.47175	0.900000	0.52787	5.691000	0.68249	2.532000	0.85374	0.561000	0.74099	GCG			0.607	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000318469.1		NM_017931		T	46664423	G	T	46664423	3	4	30	1	0	0	0	0	1	0	0	0	16730	1319	46	2	52	2	TTC38	22	46664423	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	9207524	46664423	4640143	89	2139											
CNKSR2	22866	broad.mit.edu	37	chrX	21450746	21450746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaattatggcttggaaaCagaaaatctaaaaacccttt	17	11	6	7	0	2	2	1	0	1	2	2	3	2	3	1	2	2	1	1	2	8	4			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chrX:21450746C>A	ENST00000379510.3	+	3	281	c.245C>A	c.(244-246)aCa>aAa	p.T82K	CNKSR2_ENST00000425654.2_Missense_Mutation_p.T82K|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T82K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.T82K	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	82					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGCTTGGAAACAGAAAATCTA	0.313																																					p.T82K													.	CNKSR2	158		0			c.C245A												46	53	51					X																	21450746		2202	4300	6502	SO:0001583	missense	22866	exon3			TGGAAACAGAAAA	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.245C>A	X.37:g.21450746C>A	ENSP00000368824:p.Thr82Lys		189	0.0158730159	3		355	0.03	11	NM_001168647	0		0	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890134	0.52014	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.20200	2.44;2.19;2.09;2.4	4.65	4.65	0.58169	Sterile alpha motif/pointed domain (1);	0.113958	0.64402	D	0.000017	T	0.37461	0.1004	L	0.41573	1.285	0.80722	D	1	D;P;B	0.89917	1.0;0.768;0.125	D;P;B	0.91635	0.999;0.517;0.118	T	0.06935	-1.0799	10	0.30854	T	0.27	-3.8699	16.8676	0.86033	0.0:1.0:0.0:0.0	.	82;82;82	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	K	82	ENSP00000397906:T82K;ENSP00000444633:T82K;ENSP00000279451:T82K;ENSP00000368824:T82K	ENSP00000279451:T82K	T	+	2	0	CNKSR2	21360667	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.341000	0.79300	1.898000	0.54952	0.363000	0.22086	ACA			0.313	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056019.1		NM_014927		A	21450746	C	A	21450746	3	1	30	1	0	0	0	0	1	0	0	0	3609	478	17	3	255	3	CNKSR2	23	21450746	Missense_Mutation	SNP	C	TCGA-2G-AAGI-01A-11D-A42Y-10		21450746	133819814	90	2140											
POLA1	5422	broad.mit.edu	37	chrX	24759594	24759594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttccattagcattgcaGatcactaacatcgctgggaa	11	12	8	10	1	2	1	1	0	1	1	4	2	3	2	1	1	3	4	1	1	3	5			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chrX:24759594G>T	ENST00000379059.3	+	21	2316	c.2301G>T	c.(2299-2301)caG>caT	p.Q767H	POLA1_ENST00000379068.3_Missense_Mutation_p.Q773H|SCARNA23_ENST00000516060.1_RNA	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	767					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TAGCATTGCAGATCACTAACA	0.383																																					p.Q767H													.	POLA1	117		0			c.G2301T												129	105	113					X																	24759594		2203	4300	6503	SO:0001583	missense	5422	exon21			ATTGCAGATCACT		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2301G>T	X.37:g.24759594G>T	ENSP00000368349:p.Gln767His		66	0	0		184	0.03	5	NM_016937	27	0	0	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035666	0.75617	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.46819	0.86;0.86	5.24	5.24	0.73138	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84173	0.0435	10	0.87932	D	0	-9.0274	17.9679	0.89105	0.0:0.0:1.0:0.0	.	767	P09884	DPOLA_HUMAN	H	773;767	ENSP00000368358:Q773H;ENSP00000368349:Q767H	ENSP00000368349:Q767H	Q	+	3	2	POLA1	24669515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.063000	0.71162	2.433000	0.82419	0.600000	0.82982	CAG			0.383	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056111.1		NM_016937		T	24759594	G	T	24759594	3	4	30	1	0	0	0	0	1	0	0	0	12204	933	33	3	2383	3	POLA1	23	24759594	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	3308848	24759594	130510966	91	2141											
RBM10	8241	bcgsc.ca	37	chrX	47039331	47039331	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accatggattccatcctgggGgccctggcaccctacgcggt	6	8	12	15	2	0	0	0	0	0	0	2	1	2	1	5	5	1	1	5	5	1	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chrX:47039331G>T	ENST00000377604.3	+	10	1696	c.954G>T	c.(952-954)ggG>ggT	p.G318G	RBM10_ENST00000329236.7_Silent_p.G241G|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000345781.6_Silent_p.G241G	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	318	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCATCCTGGGGGCCCTGGCAC	0.592																																					p.G383G	Melanoma(171;120 2705 19495 39241)												.	RBM10	117		0			c.G1149T												46	28	34					X																	47039331		2203	4300	6503	SO:0001819	synonymous_variant	8241	exon10			CCTGGGGGCCCTG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.954G>T	X.37:g.47039331G>T			134	0	0		237	0	0	NM_001204468	71	0	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	CCDS14274.1																																																																																					0.592	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676		T	47039331	G	T	47039331	2	4	30	1	0	0	0	0	0	0	0	1	13134	1219	43	3		3	RBM10	23	47039331	Silent	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	22279737	47039331	108231229	92	2142											
SYN1	6853	broad.mit.edu	37	chrX	47478985	47478985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacctctcggcagtggcgGtcccgggaccgggcgtggct	4	6	18	13	5	1	0	0	0	1	0	3	2	2	2	3	7	0	2	3	7	0	0			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chrX:47478985G>A	ENST00000295987.7	-	1	267	c.143C>T	c.(142-144)aCc>aTc	p.T48I	SYN1_ENST00000340666.4_Missense_Mutation_p.T48I	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	48	B; linker.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGCAGTGGCGGTCCCGGGACC	0.751																																					p.T48I													.	SYN1	84		0			c.C143T												2	3	3					X																	47478985		1449	2922	4371	SO:0001583	missense	6853	exon1			GTGGCGGTCCCGG		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.143C>T	X.37:g.47478985G>A	ENSP00000295987:p.Thr48Ile		45	0	0		56	0.05	3	NM_006950	2	0	0	B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	G	7.146	0.582738	0.13749	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.31769	1.9;1.48	4.03	2.06	0.26882	.	0.599767	0.14300	U	0.328343	T	0.13372	0.0324	N	0.08118	0	0.09310	N	1	B;B	0.28636	0.139;0.218	B;B	0.22386	0.017;0.039	T	0.16808	-1.0390	10	0.41790	T	0.15	.	5.963	0.19310	0.1193:0.1917:0.689:0.0	.	48;48	P17600;P17600-2	SYN1_HUMAN;.	I	48	ENSP00000295987:T48I;ENSP00000343206:T48I	ENSP00000295987:T48I	T	-	2	0	SYN1	47363929	0.016000	0.18221	0.226000	0.23910	0.303000	0.27691	1.581000	0.36558	0.524000	0.28502	0.458000	0.33432	ACC			0.751	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056445.1		NM_006950		A	47478985	G	A	47478985	3	1	30	1	0	0	0	0	1	0	0	0	15463	1261	44	3	2026	3	SYN1	23	47478985	Missense_Mutation	SNP	G	TCGA-2G-AAGI-01A-11D-A42Y-10	439654	47478985	107791575	93	2143											
MAGEC1	9947	broad.mit.edu	37	chrX	140993906	140993908	+	In_Frame_Del	DEL	CCT	CCT	-																															tctccagattcctgtgagccCctcctcctcctccactttac																								rs146816736|rs140572967	byFrequency	TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chrX:140993906_140993908delCCT	ENST00000285879.4	+	4	1002_1004	c.716_718delCCT	c.(715-720)ccctcc>ccc	p.S243del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	243										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)					CCTGTGAGCCCCTCCTCCTCCTC	0.473										HNSCC(15;0.026)																											p.239_240del													.	MAGEC1	317		0			c.716_718del																																									SO:0001651	inframe_deletion	9947	exon4			TGAGCCCCTCCTC	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.716_718delCCT	X.37:g.140993915_140993917delCCT	ENSP00000285879:p.Ser243del		1002	0	0		1569	0.01	8	NM_005462	0		0	A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	CCDS35417.1																																																																																					0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058604.1		NM_005462		-	140993908	CCT	-	140993906	7	5	30	1	0	1	0	1	0	0	0	0	9196	623	22	0	722	0	MAGEC1	23	140993906	In_Frame_Del	DEL	CCT	TCGA-2G-AAGI-01A-11D-A42Y-10	93514921	140993906	14276654	94	2144											
PLXNB3	5365	broad.mit.edu	37	chrX	153039474	153039474	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcttcctgtaccagcccaAcccccgcctggcacccctca	6	6	8	21	1	1	0	1	0	0	0	2	0	2	0	8	2	3	3	8	2	2	2			TCGA-2G-AAGI-01A-11D-A42Y-10	TCGA-2G-AAGI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30f7d68d-4e46-4877-aecf-41abb5337d40	30b85f09-03f5-4f99-9b77-03a51c118dc8	g.chrX:153039474A>C	ENST00000361971.5	+	20	3554	c.3440A>C	c.(3439-3441)aAc>aCc	p.N1147T	PLXNB3_ENST00000538966.1_Missense_Mutation_p.N1170T|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Missense_Mutation_p.N757T|PLXNB3_ENST00000538776.1_Missense_Mutation_p.N800T	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1147					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)					TACCAGCCCAACCCCCGCCTG	0.677																																					p.N1170T													.	PLXNB3	208		0			c.A3509C												23	24	24					X																	153039474		2194	4281	6475	SO:0001583	missense	5365	exon21			AGCCCAACCCCCG	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.3440A>C	X.37:g.153039474A>C	ENSP00000355378:p.Asn1147Thr		39	0.1282051282	5		58	0.22	13	NM_001163257	1	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	a	17.87	3.493823	0.64186	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.28	4.11	0.48088	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.091066	0.64402	N	0.000001	T	0.77110	0.4082	M	0.84683	2.71	0.45777	D	0.998663	P;D;P	0.63880	0.556;0.993;0.556	B;D;B	0.63283	0.285;0.913;0.403	T	0.78132	-0.2323	10	0.87932	D	0	.	9.5112	0.39078	0.8243:0.1757:0.0:0.0	.	800;1170;1147	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	T	1170;1147;800;757	ENSP00000442736:N1170T;ENSP00000355378:N1147T;ENSP00000445569:N800T;ENSP00000441919:N757T	ENSP00000355378:N1147T	N	+	2	0	PLXNB3	152692668	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.749000	0.62155	0.665000	0.31066	-0.408000	0.06270	AAC			0.677	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061063.1				C	153039474	A	C	153039474	3	2	30	1	0	0	0	0	1	0	0	0	12142	43	2	4	3632	4	PLXNB3	23	153039474	Missense_Mutation	SNP	A	TCGA-2G-AAGI-01A-11D-A42Y-10	12045568	153039474	2231086	95	2145											
DVL1	1855	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	1273785	1273785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccttgaagccctccacGtgtgtgtacagccagtccac	7	9	9	16	2	0	1	0	1	0	0	3	1	3	1	5	0	3	2	5	0	2	2	rs151161721		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr1:1273785G>A	ENST00000378888.5	-	13	1655	c.1371C>T	c.(1369-1371)caC>caT	p.H457H	DVL1_ENST00000378891.5_Silent_p.H432H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	457	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCCCTCCACGTGTGTGTACA	0.682																																					p.H432H													.	.			0			c.C1296T							G		0,4404		0,0,2202	35	34	34		1296	-1.9	0.9	1	dbSNP_134	34	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous	DVL1	NM_004421.2		0,2,6494	AA,AG,GG		0.0233,0.0,0.0154		432/671	1273785	2,12990	2202	4294	6496	SO:0001819	synonymous_variant	1855	exon13			CTCCACGTGTGTG	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1371C>T	1.37:g.1273785G>A			47	0	0		83	0.14	12	NM_004421	203	0.2	41	Q5TA33|Q5TA35	Silent	SNP	ENST00000378888.5	37																																																																																				0		0.682	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000008490.1		NM_004421		A	1273785	G	A	1273785	2	1	31	1	0	0	0	0	0	0	0	1	4840	1136	40	1		1	DVL1	1	1273785	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		1273785	247976836	1	2146											
FOXE3	2301	broad.mit.edu	37	chr1	47882404	47882404	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgagccgggcaacccGggcaagggcaactactggac	9	2	14	16	4	0	0	0	0	0	0	0	2	0	1	4	4	4	3	4	4	4	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr1:47882404G>T	ENST00000335071.2	+	1	661	c.417G>T	c.(415-417)ccG>ccT	p.P139P		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	139					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		CGGGCAACCCGGGCAAGGGCA	0.672																																					p.P139P													.	FOXE3	8		0			c.G417T												45	47	46					1																	47882404		2203	4300	6503	SO:0001819	synonymous_variant	2301	exon1			CAACCCGGGCAAG	AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"Forkhead boxes"	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.417G>T	1.37:g.47882404G>T			175	0	0		149	0.03	5	NM_012186	1	0	0	Q5SVY9|Q9NQV9	Silent	SNP	ENST00000335071.2	37	CCDS550.1																																																																																					0.672	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021836.1		NM_012186		T	47882404	G	T	47882404	2	4	31	1	0	0	0	0	0	0	0	1	6017	1103	39	1		1	FOXE3	1	47882404	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	46608619	47882404	201368217	2	2147											
SEMA6C	10500	bcgsc.ca	37	chr1	151110195	151110195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccttaccctccccaGccgagcatcctccacagaga	9	6	5	21	1	0	1	0	0	0	1	4	3	4	1	9	0	3	1	9	0	1	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr1:151110195G>T	ENST00000341697.3	-	10	2439	c.748C>A	c.(748-750)Ctg>Atg	p.L250M				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	250	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)			ACCCTCCCCAGCCGAGCATCC	0.572																																					p.L250M													.	SEMA6C	70		0			c.C748A												122	109	114					1																	151110195		2203	4300	6503	SO:0001583	missense	10500	exon10			TCCCCAGCCGAGC	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.748C>A	1.37:g.151110195G>T	ENSP00000344148:p.Leu250Met		90	0	0		131	0.05	6	NM_001178061	11	0	0	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967508	0.53507	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.48	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.076634	0.53938	D	0.000050	T	0.12135	0.0295	L	0.58302	1.8	0.45662	D	0.99858	P;D;P;D	0.89917	0.875;0.999;0.849;1.0	P;D;P;D	0.91635	0.74;0.994;0.623;0.999	T	0.11542	-1.0583	10	0.23891	T	0.37	.	5.8698	0.18797	0.0995:0.0:0.7129:0.1876	.	250;210;250;250	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	M	250;210;250;250;250	ENSP00000357910:L250M;ENSP00000357908:L210M;ENSP00000357909:L250M;ENSP00000344148:L250M	ENSP00000344148:L250M	L	-	1	2	SEMA6C	149376819	0.893000	0.30496	0.989000	0.46669	0.901000	0.52897	1.290000	0.33319	1.069000	0.40788	0.561000	0.74099	CTG			0.572	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000034074.1		NM_030913		T	151110195	G	T	151110195	3	4	31	1	0	0	0	0	1	0	0	0	14064	962	34	2	2184	2	SEMA6C	1	151110195	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	103227791	151110195	98140426	3	2148											
TCHH	7062	broad.mit.edu	37	chr1	152081419	152081419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctgtcacgctcttggCggctcagctgctgttcctcc	3	15	9	14	2	4	0	2	0	2	0	6	0	6	0	2	2	2	5	2	2	0	4			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr1:152081419C>A	ENST00000368804.1	-	2	4273	c.4274G>T	c.(4273-4275)cGc>cTc	p.R1425L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1425	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGCTCTTGGCGGCTCAGCTG	0.592											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									p.R1425L													.	TCHH	275		0			c.G4274T												78	80	79					1																	152081419		1896	4106	6002	SO:0001583	missense	7062	exon3			TCTTGGCGGCTCA	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4274G>T	1.37:g.152081419C>A	ENSP00000357794:p.Arg1425Leu		135	0	0	1745	150	0.04	6	NM_007113	0		0	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	15.04	2.715319	0.48622	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	3.06	3.06	0.35304	.	.	.	.	.	T	0.09069	0.0224	M	0.65498	2.005	0.28935	N	0.891332	D	0.76494	0.999	D	0.69479	0.964	T	0.14035	-1.0487	9	0.26408	T	0.33	.	9.4142	0.38512	0.0:1.0:0.0:0.0	.	1425	Q07283	TRHY_HUMAN	L	1425	ENSP00000357794:R1425L	ENSP00000357794:R1425L	R	-	2	0	TCHH	150348043	0.000000	0.05858	0.990000	0.47175	0.630000	0.37929	0.292000	0.19011	1.553000	0.49476	0.514000	0.50259	CGC			0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036671.2		NM_007113		A	152081419	C	A	152081419	3	1	31	1	0	0	0	0	1	0	0	0	15723	768	27	1	1561	1	TCHH	1	152081419	Missense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	971224	152081419	97169202	4	2149											
OR10J3	441911	broad.mit.edu	37	chr1	159284389	159284389	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtttgtgctgccgccTgaagctggagaaaccttcaa	11	9	11	10	1	1	2	1	1	0	1	1	4	1	2	3	1	4	3	3	1	4	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr1:159284389T>C	ENST00000332217.5	-	1	60	c.61A>G	c.(61-63)Agg>Ggg	p.R21G		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	21						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(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TGCTGCCGCCTGAAGCTGGAG	0.453																																					p.R21G													OR10J3,right_upper_lobe,carcinoma,+1,1	OR10J3	86	1	0			c.A61G												176	184	182					1																	159284389		2203	4300	6503	SO:0001583	missense	441911	exon1			GCCGCCTGAAGCT		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.61A>G	1.37:g.159284389T>C	ENSP00000331789:p.Arg21Gly		216	0	0		205	0.01	3	NM_001004467	0		0		Missense_Mutation	SNP	ENST00000332217.5	37	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.389314	0.00200	.	.	ENSG00000196266	ENST00000332217	T	0.00573	6.48	5.13	0.819	0.18785	.	0.578052	0.12856	N	0.433501	T	0.00109	0.0003	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08638	-1.0712	10	0.19147	T	0.46	.	4.0077	0.09608	0.0:0.3419:0.3465:0.3116	.	21	Q5JRS4	O10J3_HUMAN	G	21	ENSP00000331789:R21G	ENSP00000331789:R21G	R	-	1	2	OR10J3	157551013	0.000000	0.05858	0.902000	0.35471	0.014000	0.08584	-1.345000	0.02637	0.296000	0.22592	-0.366000	0.07423	AGG			0.453	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090629.1				C	159284389	T	C	159284389	3	2	31	1	0	0	0	0	1	0	0	0	10928	1579	55	4	930	4	OR10J3	1	159284389	Missense_Mutation	SNP	T	TCGA-2G-AAGJ-01A-11D-A42Y-10	7202970	159284389	89966232	5	2150											
IGSF9	57549	mdanderson.org	37	chr1	159901663	159901663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggggatgagcagctccCgccctacttcttggaaatat	10	9	11	11	1	1	1	0	1	1	0	2	3	2	3	2	3	4	3	2	3	3	4	rs376059608		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr1:159901663C>T	ENST00000368094.1	-	11	1498	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R418Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	434	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGCAGCTCCCGCCCTACTTC	0.592																																					p.R434Q													.	.			0			c.G1301A							C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	56	65	62		1301,1253	4.4	1	1		62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IGSF9	NM_001135050.1,NM_020789.3	43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	434/1180,418/1164	159901663	2,13004	2203	4300	6503	SO:0001583	missense	57549	exon11			AGCTCCCGCCCTA	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1301G>A	1.37:g.159901663C>T	ENSP00000357073:p.Arg434Gln		72	0	0		53	0.06	3	NM_001135050	4	0	0		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401258	0.83120	2.27E-4	1.16E-4	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.77229	-1.08;-1.08	4.41	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35677	N	0.003043	T	0.69584	0.3127	N	0.25060	0.705	0.40030	D	0.975525	D;P	0.63046	0.992;0.898	P;B	0.59889	0.865;0.432	T	0.70626	-0.4820	9	.	.	.	-16.1096	14.5219	0.67856	0.0:1.0:0.0:0.0	.	434;434	Q9P2J2;C9JI81	TUTLA_HUMAN;.	Q	418;434;434	ENSP00000355049:R418Q;ENSP00000357073:R434Q	.	R	-	2	0	IGSF9	158168287	1.000000	0.71417	0.999000	0.59377	0.549000	0.35272	7.083000	0.76859	2.003000	0.58678	0.561000	0.74099	CGG			0.592	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059115.1		NM_020789		T	159901663	C	T	159901663	3	4	31	1	0	0	0	0	1	0	0	0	7620	652	23	1	2282	1	IGSF9	1	159901663	Missense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	617274	159901663	89348958	6	2151											
ZBTB37	84614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	173839947	173839947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgaggagtccaccaGccctcagatcattgaaccaa	11	8	7	15	0	2	3	2	2	0	1	5	4	5	4	6	1	2	0	6	1	2	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr1:173839947G>C	ENST00000367701.5	+	2	775	c.584G>C	c.(583-585)aGc>aCc	p.S195T	ZBTB37_ENST00000432989.1_Missense_Mutation_p.S195T|ZBTB37_ENST00000427304.1_Missense_Mutation_p.S195T|ZBTB37_ENST00000367702.1_Missense_Mutation_p.S195T|ZBTB37_ENST00000367704.1_Missense_Mutation_p.S195T			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	195					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)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GAGTCCACCAGCCCTCAGATC	0.547																																					p.S195T													.	.			0			c.G584C												53	54	54					1																	173839947		2203	4300	6503	SO:0001583	missense	84614	exon3			CCACCAGCCCTCA	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.584G>C	1.37:g.173839947G>C	ENSP00000356674:p.Ser195Thr		139	0	0		144	0.22	31	NM_032522	5	0	0	Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656450	0.67586	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;T;T;T;T	0.76578	-1.01;2.59;-1.03;-1.03;2.59	5.9	4.99	0.66335	.	0.121406	0.85682	D	0.000000	T	0.56514	0.1990	L	0.29908	0.895	0.80722	D	1	B;P	0.46220	0.155;0.874	B;B	0.44163	0.028;0.443	T	0.58896	-0.7555	10	0.15066	T	0.55	.	15.2229	0.73327	0.0674:0.0:0.9326:0.0	.	195;195	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	T	195;195;195;195;103;195	ENSP00000356677:S195T;ENSP00000415293:S195T;ENSP00000409408:S195T;ENSP00000356675:S195T;ENSP00000356674:S195T	ENSP00000356674:S195T	S	+	2	0	ZBTB37	172106570	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.462000	0.90374	1.499000	0.48617	0.563000	0.77884	AGC			0.547	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090729.2		NM_032522		C	173839947	G	C	173839947	3	2	31	1	0	0	0	0	1	0	0	0	17561	971	34	5	586	5	ZBTB37	1	173839947	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	13938284	173839947	75410674	7	2152											
NMNAT2	23057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	183259297	183259297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgttccaacacgctgCaggtcgtctgccaggtgtcc	5	10	14	12	2	1	0	0	0	1	0	4	0	3	0	3	4	3	3	3	4	1	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr1:183259297C>T	ENST00000287713.6	-	4	621	c.287G>A	c.(286-288)tGc>tAc	p.C96Y	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Missense_Mutation_p.C91Y	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	96					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)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CAACACGCTGCAGGTCGTCTG	0.562																																					p.C96Y													.	.			0			c.G287A												90	74	79					1																	183259297		2203	4299	6502	SO:0001583	missense	23057	exon4			ACGCTGCAGGTCG	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.287G>A	1.37:g.183259297C>T	ENSP00000287713:p.Cys96Tyr		138	0	0		139	0.19	26	NM_015039	14	0.43	6	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	ENST00000287713.6	37	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804647	0.70682	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97232	-4.3;-4.16	5.21	5.21	0.72293	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.377657	0.36555	N	0.002532	D	0.95655	0.8587	N	0.13098	0.295	0.80722	D	1	B;D	0.59767	0.231;0.986	B;D	0.69654	0.097;0.965	D	0.92152	0.5729	10	0.02654	T	1	-9.7822	18.3635	0.90383	0.0:1.0:0.0:0.0	.	96;91	Q9BZQ4;Q9BZQ4-2	NMNA2_HUMAN;.	Y	96;91	ENSP00000287713:C96Y;ENSP00000294868:C91Y	ENSP00000287713:C96Y	C	-	2	0	NMNAT2	181525920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.012000	0.76366	2.430000	0.82344	0.563000	0.77884	TGC			0.562	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086255.1				T	183259297	C	T	183259297	3	4	31	1	0	0	0	0	1	0	0	0	10516	710	25	2	668	2	NMNAT2	1	183259297	Missense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	9419350	183259297	65991324	8	2153											
FNDC4	64838	mdanderson.org	37	chr2	27717514	27717514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatgtccccacggagtccGctggggggggaactgtggca	6	6	17	12	2	0	0	0	0	0	0	2	2	2	2	4	6	1	2	4	6	1	0	rs372961149		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr2:27717514G>T	ENST00000264703.3	-	2	424	c.33C>A	c.(31-33)agC>agA	p.S11R	GCKR_ENST00000264717.2_5'Flank|GCKR_ENST00000424318.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	11						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CACGGAGTCCGCTGGGGGGGG	0.647																																					p.S11R													.	.			0			c.C33A												14	15	14					2																	27717514		2201	4294	6495	SO:0001583	missense	64838	exon2			GAGTCCGCTGGGG	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"Fibronectin type III domain containing"	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.33C>A	2.37:g.27717514G>T	ENSP00000264703:p.Ser11Arg		70	0	0		83	0.05	4	NM_022823	62	0	0	D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897634	0.33535	.	.	ENSG00000115226	ENST00000264703	T	0.07021	3.23	4.92	1.6	0.23607	.	2.302850	0.02021	N	0.047796	T	0.04724	0.0128	N	0.03608	-0.345	0.20489	N	0.999898	P	0.35383	0.498	B	0.36335	0.222	T	0.23013	-1.0200	10	0.41790	T	0.15	-21.9848	4.3353	0.11083	0.2448:0.0:0.5742:0.181	.	11	Q9H6D8	FNDC4_HUMAN	R	11	ENSP00000264703:S11R	ENSP00000264703:S11R	S	-	3	2	FNDC4	27571018	0.219000	0.23619	0.850000	0.33497	0.695000	0.40330	-0.351000	0.07711	0.481000	0.27557	0.456000	0.33151	AGC			0.647	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215031.1		NM_022823		T	27717514	G	T	27717514	3	4	31	1	0	0	0	0	1	0	0	0	5984	1078	38	1	695	1	FNDC4	2	27717514	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		27717514	215481859	9	2154											
ACMSD	130013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	135630212	135630212	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taacagatgtcataggaaagGtaagcccagtctgccacttg	13	9	10	9	0	2	1	1	0	1	1	2	2	2	2	2	2	3	1	2	2	4	4			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr2:135630212G>T	ENST00000356140.5	+	8	985		c.e8+1		AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Splice_Site|ACMSD_ENST00000392928.1_Splice_Site|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000428857.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase						cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CATAGGAAAGGTAAGCCCAGT	0.478																																					.													.	.			0			c.849+1G>T												120	107	112					2																	135630212		2203	4300	6503	SO:0001630	splice_region_variant	130013	exon8			GGAAAGGTAAGCC	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.849+1G>T	2.37:g.135630212G>T			94	0	0		140	0.2	28	NM_138326	0		0	Q3B7X3|Q53SR5|Q96KY2	Splice_Site	SNP	ENST00000356140.5	37	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658414	0.88154	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4305	0.94762	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACMSD	135346682	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.837000	0.99465	2.616000	0.88540	0.484000	0.47621	.			0.478	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254627.1			Intron	T	135630212	G	T	135630212	5	4	31	1	0	0	0	0	0	0	1	0	144	1275	44	3	880	3	ACMSD	2	135630212	Splice_Site	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	107912698	135630212	107569161	10	2155											
CHPF	79586	mdanderson.org	37	chr2	220406810	220406810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccggtgccccagcgtgCggttcacggccacgcccagc	5	4	13	19	5	1	0	1	0	0	0	1	0	1	0	6	3	5	1	6	3	0	1	rs369325931		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr2:220406810C>T	ENST00000243776.6	-	2	664	c.416G>A	c.(415-417)cGc>cAc	p.R139H	CHPF_ENST00000373891.2_Missense_Mutation_p.R139H|TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000535926.1_5'UTR|TMEM198_ENST00000373883.3_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	139					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)|mitochondrion (GO:0005739)	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)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCCAGCGTGCGGTTCACGGC	0.711											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R139H													.	.			0			c.G416A												7	8	7					2																	220406810		2163	4231	6394	SO:0001583	missense	79586	exon2			AGCGTGCGGTTCA	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.416G>A	2.37:g.220406810C>T	ENSP00000243776:p.Arg139His		20	0	0	2266	13	0.15	2	NM_024536	185	0	0	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606922	0.87157	.	.	ENSG00000123989	ENST00000243776;ENST00000373891	T	0.13538	2.58	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.985	T	0.24440	-1.0160	10	0.87932	D	0	-19.4827	17.2807	0.87127	0.0:1.0:0.0:0.0	.	139;139	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	H	139	ENSP00000243776:R139H	ENSP00000243776:R139H	R	-	2	0	CHPF	220115054	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	4.803000	0.62546	2.399000	0.81585	0.448000	0.29417	CGC			0.711	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130268.1		NM_024536		T	220406810	C	T	220406810	3	4	31	1	0	0	0	0	1	0	0	0	3370	768	27	1	1923	1	CHPF	2	220406810	Missense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	84776598	220406810	22792563	11	2156											
ALPP	250	mdanderson.org	37	chr2	233246466	233246466	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttgcttcctctgctggcCgggaccctgctgctgctgga	2	11	14	14	2	1	0	0	0	1	0	2	2	2	2	3	3	5	6	3	3	0	2	rs556577773	byFrequency	TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr2:233246466C>A	ENST00000392027.2	+	11	1838	c.1569C>A	c.(1567-1569)gcC>gcA	p.A523A	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	523					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTCTGCTGGCCGGGACCCTGC	0.736													c|||	4	0.000798722	8e-04	0	5008	,	,		12231	0		0.001	False		,,,				2504	0.002				p.A523A													.	.			0			c.C1569A																																									SO:0001819	synonymous_variant	250	exon11			GCTGGCCGGGACC	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1569C>A	2.37:g.233246466C>A			29	0.0344827586	1		19	0.16	3	NM_001632	0		0	P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	CCDS2490.1																																																																																					0.736	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257032.3		NM_001632		A	233246466	C	A	233246466	2	1	31	1	0	0	0	0	0	0	0	1	548	639	23	1		1	ALPP	2	233246466	Silent	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	12839656	233246466	9952907	12	2157											
ALPI	248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	233321406	233321406	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catacctggctctgtccaagGtaagggctgggccacctcag	8	8	12	13	0	2	0	1	0	1	0	3	0	3	0	4	4	1	3	4	4	3	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr2:233321406G>A	ENST00000295463.3	+	3	377		c.e3+1			NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal						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)		TCTGTCCAAGGTAAGGGCTGG	0.607																																					.													.	.			0			c.300+1G>A												26	25	25					2																	233321406		2201	4297	6498	SO:0001630	splice_region_variant	248	exon3			TCCAAGGTAAGGG	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.300+1G>A	2.37:g.233321406G>A			110	0	0		89	0.19	17	NM_001631	0		0	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Splice_Site	SNP	ENST00000295463.3	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146070	0.57044	.	.	ENSG00000163295	ENST00000295463	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5859	0.91189	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPI	233029650	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	6.372000	0.73123	2.814000	0.96858	0.655000	0.94253	.			0.607	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257035.2		NM_001631	Intron	A	233321406	G	A	233321406	5	1	31	1	0	0	0	0	0	0	1	0	543	1275	44	3	311	3	ALPI	2	233321406	Splice_Site	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	74940	233321406	9877967	13	2158											
ITPR1	3708	mdanderson.org	37	chr3	4718333	4718333	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctattcatggcgtgggaGagctgatgacccaggtggtg	8	10	16	7	1	2	3	1	2	1	1	2	5	2	3	1	4	1	1	1	4	1	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr3:4718333G>T	ENST00000443694.2	+	21	2770	c.2770G>T	c.(2770-2772)Gag>Tag	p.E924*	ITPR1_ENST00000302640.8_Nonsense_Mutation_p.E924*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.E930*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.E915*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.E939*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.E930*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	939					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)	TGGCGTGGGAGAGCTGATGAC	0.547																																					p.E930X													.	.			0			c.G2788T												78	82	81					3																	4718333		2043	4202	6245	SO:0001587	stop_gained	3708	exon24			GTGGGAGAGCTGA	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.2770G>T	3.37:g.4718333G>T	ENSP00000401671:p.Glu924*		78	0	0		34	0.09	3	NM_001099952	2	0	0	E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	45	11.516846	0.99570	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	16.8665	0.86030	0.0:0.0:1.0:0.0	.	.	.	.	X	939;924;939;930;930;915;924	.	ENSP00000306253:E924X	E	+	1	0	ITPR1	4693333	1.000000	0.71417	0.967000	0.41034	0.897000	0.52465	7.305000	0.78891	2.280000	0.76307	0.313000	0.20887	GAG			0.547	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337982.3		NM_002222		T	4718333	G	T	4718333	4	4	31	1	0	0	0	0	0	1	0	0	7935	943	33	3	2901	3	ITPR1	3	4718333	Nonsense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		4718333	193304097	14	2159											
PLXNB1	5364	mdanderson.org	37	chr3	48461313	48461313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgctgctacctctgaCggtgacagcggggaggccaa	8	6	15	12	2	1	2	0	2	1	0	1	3	1	3	2	5	4	3	2	5	2	1	rs2362450	byFrequency	TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr3:48461313C>T	ENST00000358536.4	-	11	2651	c.2382G>A	c.(2380-2382)ccG>ccA	p.P794P	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Silent_p.P794P|PLXNB1_ENST00000358459.4_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	794	Pro-rich.				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)		CTACCTCTGACGGTGACAGCG	0.657																																					p.P794P													PLXNB1,colon,carcinoma,-2,1	PLXNB1	-2	1	0			c.G2382A												13	16	15					3																	48461313		2202	4294	6496	SO:0001819	synonymous_variant	5364	exon11			CTCTGACGGTGAC	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.2382G>A	3.37:g.48461313C>T			96	0	0		91	0.03	3	NM_001130082	17	0	0	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	CCDS2765.1																																																																																					0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344454.1		NM_002673		T	48461313	C	T	48461313	2	4	31	1	0	0	0	0	0	0	0	1	12140	523	19	1		1	PLXNB1	3	48461313	Silent	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	43742980	48461313	149561117	15	2160											
TMPRSS7	344805	broad.mit.edu	37	chr3	111799770	111799770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtgtgtagggagattcgGgtggacctttatcttgtcga	6	15	15	5	2	1	1	0	0	1	1	3	4	1	2	1	3	0	1	1	3	2	5			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr3:111799770G>T	ENST00000452346.2	+	18	2374	c.2371G>T	c.(2371-2373)Ggt>Tgt	p.G791C	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.G665C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	791	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGGAGATTCGGGTGGACCTTT	0.383																																					p.G665C													.	TMPRSS7	126		0			c.G1993T												236	222	227					3																	111799770		1900	4134	6034	SO:0001583	missense	344805	exon16			GATTCGGGTGGAC	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2371G>T	3.37:g.111799770G>T	ENSP00000398236:p.Gly791Cys		235	0	0		241	0.03	7	NM_001042575	0		0	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.473425	0.84640	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.99871	-7.35;-7.35	5.75	5.75	0.90469	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99935	0.9971	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95995	0.8989	10	0.87932	D	0	.	18.7257	0.91713	0.0:0.0:1.0:0.0	.	791;665	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	C	791;779;765;665	ENSP00000398236:G791C;ENSP00000411645:G665C	ENSP00000411645:G665C	G	+	1	0	TMPRSS7	113282460	1.000000	0.71417	0.960000	0.40013	0.922000	0.55478	8.943000	0.92975	2.728000	0.93425	0.650000	0.86243	GGT			0.383	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000347592.2		XM_293599		T	111799770	G	T	111799770	3	4	31	1	0	0	0	0	1	0	0	0	16275	1232	43	3	2051	3	TMPRSS7	3	111799770	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	63338457	111799770	86222660	16	2161											
CCDC48	79825	mdanderson.org	37	chr3	128720514	128720514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggccggcatggagggcGcgggaggtgacccgtaccgg	6	3	21	11	6	0	1	0	1	0	0	0	4	0	4	3	8	1	2	3	8	1	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr3:128720514G>T	ENST00000480450.1	+	1	43	c.43G>T	c.(43-45)Gcg>Tcg	p.A15S	KIAA1257_ENST00000510149.1_Intron|EFCC1_ENST00000436022.2_5'UTR			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	15							calcium ion binding (GO:0005509)										CATGGAGGGCGCGGGAGGTGA	0.756																																					p.A15S													.	.			0			c.G43T																																									SO:0001583	missense	79825	exon1			GAGGGCGCGGGAG	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.43G>T	3.37:g.128720514G>T	ENSP00000420075:p.Ala15Ser		11	0	0		10	0.2	2	NM_024768	0		0	A8MYE2	Missense_Mutation	SNP	ENST00000480450.1	37	CCDS3054.2	.	.	.	.	.	.	.	.	.	.	g	12.43	1.935354	0.34189	.	.	ENSG00000114654	ENST00000480450	T	0.58652	0.32	3.51	-0.957	0.10350	.	0.297853	0.25958	N	0.027204	T	0.31765	0.0807	N	0.19112	0.55	0.80722	D	1	B	0.24882	0.113	B	0.24848	0.056	T	0.03268	-1.1054	10	0.15066	T	0.55	1.0988	4.8541	0.13550	0.0:0.1691:0.2973:0.5336	.	15	Q9HA90	CCD48_HUMAN	S	15	ENSP00000420075:A15S	ENSP00000420075:A15S	A	+	1	0	CCDC48	130203204	0.552000	0.26505	0.964000	0.40570	0.110000	0.19582	1.619000	0.36965	-0.034000	0.13713	0.299000	0.19835	GCG			0.756	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000352832.1		NM_024768		T	128720514	G	T	128720514	3	4	31	1	0	0	0	0	1	0	0	0	2821	1087	38	1	45	1	CCDC48	3	128720514	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	16920744	128720514	69301916	17	2162											
SI	6476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	164709984	164709984	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatggtagtcaaaccacCgagcattggggacgtaggca	11	8	13	9	2	1	0	1	0	0	0	1	2	1	1	2	4	2	5	2	4	4	4			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr3:164709984C>A	ENST00000264382.3	-	43	5026	c.4964G>T	c.(4963-4965)cGg>cTg	p.R1655L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1655	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			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)	GTCAAACCACCGAGCATTGGG	0.348										HNSCC(35;0.089)																											p.R1655L													.	.			0			c.G4964T												131	138	136					3																	164709984		2203	4300	6503	SO:0001583	missense	6476	exon43			AACCACCGAGCAT	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.4964G>T	3.37:g.164709984C>A	ENSP00000264382:p.Arg1655Leu		184	0	0		259	0.12	32	NM_001041	0		0	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212896	0.58452	.	.	ENSG00000090402	ENST00000264382	D	0.91237	-2.81	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	L	0.49126	1.545	0.58432	D	0.999997	B	0.34349	0.45	B	0.36567	0.228	D	0.87631	0.2516	10	0.40728	T	0.16	.	16.0285	0.80560	0.0:1.0:0.0:0.0	.	1655	P14410	SUIS_HUMAN	L	1655	ENSP00000264382:R1655L	ENSP00000264382:R1655L	R	-	2	0	SI	166192678	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.411000	0.59781	2.609000	0.88269	0.655000	0.94253	CGG			0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350116.1		NM_001041		A	164709984	C	A	164709984	3	1	31	1	0	0	0	0	1	0	0	0	14320	652	23	1	543	1	SI	3	164709984	Missense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	35989470	164709984	33312446	18	2163											
ADD1	118	broad.mit.edu	37	chr4	2895781	2895781	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacacttcctcattgtcccTtttgggcttctttacagtga	7	16	7	11	0	2	1	1	1	1	0	4	2	4	1	2	1	2	1	2	1	2	7			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr4:2895781T>C	ENST00000398129.1	+	4	572	c.552T>C	c.(550-552)ccT>ccC	p.P184P	ADD1_ENST00000446856.1_Silent_p.P184P|ADD1_ENST00000513328.2_Silent_p.P184P|ADD1_ENST00000503455.2_Silent_p.P184P|ADD1_ENST00000398123.2_Silent_p.P184P|ADD1_ENST00000264758.7_Silent_p.P184P|ADD1_ENST00000398125.1_Silent_p.P184P|ADD1_ENST00000355842.3_Silent_p.P184P			P35611	ADDA_HUMAN	adducin 1 (alpha)	184					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCATTGTCCCTTTTGGGCTTC	0.428																																					p.P184P	Esophageal Squamous(71;505 1201 20414 34538 37449)												.	ADD1	56		0			c.T552C												205	175	185					4																	2895781		2203	4300	6503	SO:0001819	synonymous_variant	118	exon5			TGTCCCTTTTGGG	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.552T>C	4.37:g.2895781T>C			172	0	0		175	0.02	3	NM_014190	86	0	0	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	CCDS43205.1																																																																																					0.428	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000242840.1		NM_014189		C	2895781	T	C	2895781	2	2	31	1	0	0	0	0	0	0	0	1	304	1596	56	4		4	ADD1	4	2895781	Silent	SNP	T	TCGA-2G-AAGJ-01A-11D-A42Y-10		2895781	188258495	19	2164											
BST1	683	mdanderson.org	37	chr4	15704856	15704856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggcggcgggcggggCgcgcgcgcggtggcgcgggg	0	3	26	12	10	0	0	0	0	0	0	0	0	0	0	0	9	1	2	0	9	0	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr4:15704856C>T	ENST00000265016.4	+	1	284	c.89C>T	c.(88-90)gCg>gTg	p.A30V	BST1_ENST00000382346.3_Missense_Mutation_p.A30V	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	30					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						gcgggcggggcgcgcgcgcgg	0.726																																					p.A30V													.	.			0			c.C89T												3	4	4					4																	15704856		1804	3715	5519	SO:0001583	missense	683	exon1			GCGGGGCGCGCGC	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.89C>T	4.37:g.15704856C>T	ENSP00000265016:p.Ala30Val		28	0	0		20	0.1	2	NM_004334	3	0	0	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	CCDS3416.1	.	.	.	.	.	.	.	.	.	.	C	9.000	0.979811	0.18812	.	.	ENSG00000109743	ENST00000265016;ENST00000382346	T;T	0.15139	2.48;2.45	3.22	-2.65	0.06095	.	1.178170	0.06446	N	0.726953	T	0.09642	0.0237	N	0.21448	0.665	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.36672	-0.9738	10	0.29301	T	0.29	-3.7819	4.0555	0.09814	0.0:0.308:0.3437:0.3483	.	30	Q10588	BST1_HUMAN	V	30	ENSP00000265016:A30V;ENSP00000371783:A30V	ENSP00000265016:A30V	A	+	2	0	BST1	15313954	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.621000	0.02044	-0.518000	0.06452	-0.369000	0.07265	GCG			0.726	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000214968.2		NM_004334		T	15704856	C	T	15704856	3	4	31	1	0	0	0	0	1	0	0	0	1535	768	27	1	91	1	BST1	4	15704856	Missense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	12809075	15704856	175449420	20	2165											
LCORL	254251	mdanderson.org	37	chr4	18023327	18023327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggcggcggcggcggcGgcagcagcggcggcggcagc	4	1	23	13	9	0	1	0	1	0	0	0	1	0	1	0	9	4	3	0	9	0	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr4:18023327G>A	ENST00000382226.5	-	1	156	c.48C>T	c.(46-48)gcC>gcT	p.A16A	LCORL_ENST00000539056.1_5'UTR|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000382224.1_5'Flank|LCORL_ENST00000326877.4_Silent_p.A16A	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	16	Ala-rich.				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)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						cggcggcggcggcagcagcgg	0.697																																					p.A16A													.	.			0			c.C48T												2	3	2					4																	18023327		1081	2500	3581	SO:0001819	synonymous_variant	254251	exon1			GGCGGCGGCAGCA		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.48C>T	4.37:g.18023327G>A			87	0	0		69	0.06	4	NM_153686	0		0	Q96NK1	Silent	SNP	ENST00000382226.5	37	CCDS54749.1																																																																																					0.697	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_153686		A	18023327	G	A	18023327	2	1	31	1	0	0	0	0	0	0	0	1	8705	1103	39	1		1	LCORL	4	18023327	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	2318471	18023327	173130949	21	2166											
GYPB	2994	broad.mit.edu	37	chr4	144922392	144922392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaagaggttgaagtgtGcattgccacctcagtggtac	11	10	13	7	0	1	4	1	2	0	2	1	4	1	4	2	2	3	3	2	2	4	3	rs201949116		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr4:144922392G>A	ENST00000502664.1	-	2	133	c.82C>T	c.(82-84)Cac>Tac	p.H28Y	GYPB_ENST00000513128.1_Intron|GYPB_ENST00000283126.7_Missense_Mutation_p.H28Y|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000429670.2_Missense_Mutation_p.H28Y|RP11-673E1.4_ENST00000506982.1_RNA	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)	28						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					GTTGAAGTGTGCATTGCCACC	0.363																																					p.H28Y													.	GYPB	17		0			c.C82T							G	TYR/HIS	0,4394		0,0,2197	171	208	195		82	-0.1	0	4		195	3,8597	3.0+/-9.4	0,3,4297	no	missense	GYPB	NM_002100.4	83	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231		28/92	144922392	3,12991	2197	4300	6497	SO:0001583	missense	2994	exon2			AAGTGTGCATTGC		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.82C>T	4.37:g.144922392G>A	ENSP00000427690:p.His28Tyr		497	0	0		483	0.01	6	NM_002100	0		0	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000502664.1	37	CCDS54809.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308177	0.23821	0.0	3.49E-4	ENSG00000250361	ENST00000283126;ENST00000502664;ENST00000429670	T;T;T	0.14516	2.5;2.5;2.83	0.843	-0.0765	0.13723	.	.	.	.	.	T	0.20129	0.0484	.	.	.	0.09310	N	1	P	0.43431	0.807	P	0.53518	0.728	T	0.17319	-1.0373	8	0.87932	D	0	.	3.3149	0.07030	0.312:0.0:0.688:0.0	.	28	E2QBW7	.	Y	28	ENSP00000283126:H28Y;ENSP00000427690:H28Y;ENSP00000394200:H28Y	ENSP00000283126:H28Y	H	-	1	0	GYPB	145141842	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.397000	0.07269	-0.031000	0.13781	0.121000	0.15741	CAC			0.363	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364791.1		NM_002100		A	144922392	G	A	144922392	3	1	31	1	0	0	0	0	1	0	0	0	6924	1319	46	2	209	2	GYPB	4	144922392	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	126899065	144922392	46231884	22	2167											
C4orf51	646603	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	146617775	146617775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtacccaagagactacaGatatcaaaggtaagtgcaac	16	7	9	9	0	1	2	1	0	0	2	1	3	1	2	1	2	4	3	1	2	7	4			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr4:146617775G>C	ENST00000438731.1	+	2	298	c.298G>C	c.(298-300)Gat>Cat	p.D100H		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	100										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AGAGACTACAGATATCAAAGG	0.423																																					p.D100H													.	.			0			c.G298C												134	128	130					4																	146617775		1871	4116	5987	SO:0001583	missense	646603	exon2			ACTACAGATATCA		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.298G>C	4.37:g.146617775G>C	ENSP00000391404:p.Asp100His		92	0	0		81	0.09	7	NM_001080531	41	0.98	40		Missense_Mutation	SNP	ENST00000438731.1	37	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.733870|1.733870	0.30684|0.30684	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000438731|ENST00000511965	.|.	.|.	.|.	3.67|3.67	-0.0909|-0.0909	0.13663|0.13663	.|.	.|.	.|.	.|.	.|.	T|T	0.21631|0.21631	0.0521|0.0521	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	D|.	0.65815|.	0.995|.	P|.	0.57101|.	0.813|.	T|T	0.24333|0.24333	-1.0163|-1.0163	8|5	0.87932|.	D|.	0|.	.|.	3.0398|3.0398	0.06134|0.06134	0.329:0.0:0.479:0.192|0.329:0.0:0.479:0.192	.|.	100|.	C9J302|.	CD051_HUMAN|.	H|H	100|59	.|.	ENSP00000391404:D100H|.	D|Q	+|+	1|3	0|2	C4orf51|C4orf51	146837225|146837225	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.478000|0.478000	0.22212|0.22212	-0.060000|-0.060000	0.13132|0.13132	0.561000|0.561000	0.74099|0.74099	GAT|CAG			0.423	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001080531		C	146617775	G	C	146617775	3	2	31	1	0	0	0	0	1	0	0	0	2279	942	33	5	304	5	C4orf51	4	146617775	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	1695383	146617775	44536501	23	2168											
FCHO2	115548	broad.mit.edu	37	chr5	72286323	72286323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaacatttgcaccagtatgGgatgtattcaaaacatctac	15	11	7	8	0	2	1	1	0	1	1	2	2	2	2	1	1	4	3	1	1	6	5			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr5:72286323G>T	ENST00000430046.2	+	4	335	c.219G>T	c.(217-219)tgG>tgT	p.W73C	FCHO2_ENST00000341845.6_Missense_Mutation_p.W73C|FCHO2_ENST00000512348.1_Missense_Mutation_p.W73C|FCHO2_ENST00000287761.6_Missense_Mutation_p.W73C	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	73	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CACCAGTATGGGATGTATTCA	0.284																																					p.W73C													.	FCHO2	96		0			c.G219T												28	25	26					5																	72286323		1718	3882	5600	SO:0001583	missense	115548	exon4			AGTATGGGATGTA	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.219G>T	5.37:g.72286323G>T	ENSP00000393776:p.Trp73Cys		197	0	0		272	0.02	5	NM_138782	6	0	0	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.50|19.50	3.839362|3.839362	0.71488|0.71488	.|.	.|.	ENSG00000157107|ENSG00000157107	ENST00000507345|ENST00000430046;ENST00000341845;ENST00000512348;ENST00000287761	.|T;T;T;T	.|0.25579	.|1.79;1.79;1.79;1.79	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Fps/Fes/Fer/CIP4 homology (3);	.|0.054812	.|0.85682	.|D	.|0.000000	T|T	0.62085|0.62085	0.2399|0.2399	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.983	T|T	0.69022|0.69022	-0.5255|-0.5255	5|10	.|0.72032	.|D	.|0.01	-4.901|-4.901	18.4761|18.4761	0.90793|0.90793	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|73;73;73	.|E9PG79;Q0JRZ9-2;Q0JRZ9	.|.;.;FCHO2_HUMAN	V|C	43|73	.|ENSP00000393776:W73C;ENSP00000344034:W73C;ENSP00000427296:W73C;ENSP00000287761:W73C	.|ENSP00000287761:W73C	G|W	+|+	2|3	0|0	FCHO2|FCHO2	72322079|72322079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	9.137000|9.137000	0.94496|0.94496	2.805000|2.805000	0.96524|0.96524	0.460000|0.460000	0.39030|0.39030	GGG|TGG			0.284	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000368795.3		XM_291142		T	72286323	G	T	72286323	3	4	31	1	0	0	0	0	1	0	0	0	5801	1241	43	3	233	3	FCHO2	5	72286323	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		72286323	108628937	24	2169											
IRF4	3662	broad.mit.edu	37	chr6	401642	401642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcctctggatggcccccGacgggctctatgcgaaaaga	8	8	13	12	3	2	1	0	0	2	1	3	4	3	2	3	4	1	1	3	4	3	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr6:401642G>A	ENST00000380956.4	+	7	1090	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	322					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)		GATGGCCCCCGACGGGCTCTA	0.612			T	IGH@	MM																																p.D322N				Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4	65		0			c.G964A												45	46	46					6																	401642		2203	4300	6503	SO:0001583	missense	3662	exon7			GCCCCCGACGGGC	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.964G>A	6.37:g.401642G>A	ENSP00000370343:p.Asp322Asn		124	0	0		127	0.03	4	NM_002460	4	0	0	Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940566	0.92526	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.94862	-3.54	5.76	5.76	0.90799	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	L	0.48986	1.54	0.80722	D	1	P;P;P;D	0.61080	0.954;0.9;0.943;0.989	P;P;P;P	0.54210	0.581;0.459;0.55;0.745	D	0.91137	0.4942	10	0.20046	T	0.44	-25.6885	19.9857	0.97347	0.0:0.0:1.0:0.0	.	322;352;321;322	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	N	322;351	ENSP00000370343:D322N	ENSP00000370343:D322N	D	+	1	0	IRF4	346642	1.000000	0.71417	0.760000	0.31359	0.673000	0.39480	9.414000	0.97362	2.706000	0.92434	0.655000	0.94253	GAC			0.612	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043638.1				A	401642	G	A	401642	3	1	31	1	0	0	0	0	1	0	0	0	7847	1058	37	1	986	1	IRF4	6	401642	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		401642	170713425	25	2170											
PBX2	5089	broad.mit.edu	37	chr6	32156160	32156160	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgcagcggctgcagcTgctgctgctgagccgccccc	4	6	15	16	2	0	1	0	1	0	0	0	2	0	1	3	2	8	8	3	2	0	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr6:32156160T>A	ENST00000375050.4	-	3	687	c.417A>T	c.(415-417)gcA>gcT	p.A139A	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	139	Poly-Ala.				embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CGGCTGCAGCTGCTGCTGCTG	0.617																																					p.A139A													.	PBX2	29		0			c.A417T												25	33	30					6																	32156160		2177	4253	6430	SO:0001819	synonymous_variant	5089	exon3			TGCAGCTGCTGCT		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.417A>T	6.37:g.32156160T>A			75	0	0		77	0.05	4	NM_002586	120	0	0	A2BFJ2	Silent	SNP	ENST00000375050.4	37	CCDS4748.1																																																																																					0.617	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076194.4				A	32156160	T	A	32156160	2	1	31	1	0	0	0	0	0	0	0	1	11510	1567	55	5		5	PBX2	6	32156160	Silent	SNP	T	TCGA-2G-AAGJ-01A-11D-A42Y-10	31754518	32156160	138958907	26	2171											
IBTK	25998	broad.mit.edu	37	chr6	82924303	82924303	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctctaccacaaagagatgGcaccctgcagaatcttcatc	12	10	6	13	0	3	2	1	0	2	2	5	3	3	2	2	1	2	2	2	1	3	3			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr6:82924303G>T	ENST00000306270.7	-	12	2394	c.1845C>A	c.(1843-1845)tgC>tgA	p.C615*	IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Nonsense_Mutation_p.C615*	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	615	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CAAAGAGATGGCACCCTGCAG	0.343																																					p.C615X													.	IBTK	128		0			c.C1845A												46	46	46					6																	82924303		2203	4300	6503	SO:0001587	stop_gained	25998	exon12			GAGATGGCACCCT	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1845C>A	6.37:g.82924303G>T	ENSP00000305721:p.Cys615*		125	0	0		168	0.02	4	NM_015525	24	0	0	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Nonsense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	37	6.635437	0.97722	.	.	ENSG00000005700	ENST00000306270;ENST00000510291	.	.	.	5.71	3.68	0.42216	.	0.041945	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-5.9165	4.1618	0.10287	0.4663:0.0:0.5337:0.0	.	.	.	.	X	615	.	ENSP00000305721:C615X	C	-	3	2	IBTK	82981022	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.582000	0.46085	1.413000	0.46997	0.655000	0.94253	TGC			0.343	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041337.2		NM_015525		T	82924303	G	T	82924303	4	4	31	1	0	0	0	0	0	1	0	0	7491	1195	42	2	2288	2	IBTK	6	82924303	Nonsense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	50768143	82924303	88190764	27	2172											
MAP7	9053	broad.mit.edu;mdanderson.org	37	chr6	136732800	136732800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtcgctcccgggccagccGctgccggtcatcaacacgta	7	6	11	17	6	2	0	2	0	0	0	4	0	3	0	4	2	3	3	4	2	2	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr6:136732800G>A	ENST00000354570.3	-	3	612	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	MAP7_ENST00000544465.1_Missense_Mutation_p.R53W|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Missense_Mutation_p.R90W|MAP7_ENST00000454590.1_Missense_Mutation_p.R90W	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	68					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CGGGCCAGCCGCTGCCGGTCA	0.483																																					p.R90W													.	MAP7	63		0			c.C268T												32	32	32					6																	136732800		2196	4287	6483	SO:0001583	missense	9053	exon3			CCAGCCGCTGCCG	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.202C>T	6.37:g.136732800G>A	ENSP00000346581:p.Arg68Trp		83	0	0		69	0.06	4	NM_001198611	55	0	0	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280686	0.59758	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000345567	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.39	3.58	0.41010	.	0.000000	0.42172	D	0.000757	T	0.19805	0.0476	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.998;0.99;0.999;0.999;0.998	T	0.01706	-1.1291	10	0.72032	D	0.01	-13.0464	11.0345	0.47793	0.0:0.0:0.6618:0.3382	.	90;90;53;90;90;68;68;68	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	W	68;90;53;90;68	ENSP00000346581:R68W;ENSP00000414712:R90W;ENSP00000445737:R53W;ENSP00000400790:R90W	ENSP00000344217:R68W	R	-	1	2	MAP7	136774493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.540000	0.45727	0.634000	0.30469	0.655000	0.94253	CGG			0.483	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042382.2		NM_003980		A	136732800	G	A	136732800	3	1	31	1	0	0	0	0	1	0	0	0	9282	1086	38	1	2111	1	MAP7	6	136732800	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	53808497	136732800	34382267	28	2173											
ARID1B	57492	broad.mit.edu;mdanderson.org	37	chr6	157100005	157100005	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggaggaggaggaggcagcgg	5	0	27	9	8	0	0	0	0	0	0	0	4	0	4	0	13	1	1	0	13	0	0	rs587779748|rs184815562		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr6:157100005C>A	ENST00000350026.5	+	1	943	c.942C>A	c.(940-942)ggC>ggA	p.G314G	ARID1B_ENST00000367148.1_Silent_p.G314G|ARID1B_ENST00000346085.5_Silent_p.G314G|RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000275248.4_Silent_p.G256G|MIR4466_ENST00000606121.1_RNA|RP11-230C9.2_ENST00000603191.1_lincRNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	314	Gly-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)		gcggcggcggcggaggaggag	0.756																																					p.G314G													.	ARID1B	320		0			c.C942A												1	1	1					6																	157100005		538	1345	1883	SO:0001819	synonymous_variant	57492	exon1			CGGCGGCGGAGGA	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.942C>A	6.37:g.157100005C>A			39	0	0		51	0.08	4	NM_017519	0		0	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																					0.756	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000372723.1		NM_020732		A	157100005	C	A	157100005	2	1	31	1	0	0	0	0	0	0	0	1	914	755	27	1		1	ARID1B	6	157100005	Silent	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	20367205	157100005	14015062	29	2174											
CALD1	800	broad.mit.edu	37	chr7	134620437	134620437	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccattcttgaaaataaaaAgggagaagagaagggaacta	20	7	10	4	0	1	3	0	1	1	2	1	6	1	4	1	2	2	0	1	2	10	5			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr7:134620437A>G	ENST00000361675.2	+	6	1537		c.e6-1		CALD1_ENST00000422748.1_Splice_Site|CALD1_ENST00000393118.2_Splice_Site|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Splice_Site|CALD1_ENST00000495522.1_Splice_Site|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361901.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1						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						GAAAATAAAAAGGGAGAAGAG	0.408																																					.													.	CALD1	150		0			c.1309-2A>G												57	54	55					7																	134620437		2203	4300	6503	SO:0001630	splice_region_variant	800	exon6			ATAAAAAGGGAGA	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.1309-1A>G	7.37:g.134620437A>G			143	0	0		163	0.02	4	NM_033138	4	0	0	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Splice_Site	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610866	0.66558	.	.	ENSG00000122786	ENST00000361388;ENST00000422748;ENST00000361675;ENST00000393118;ENST00000495522	.	.	.	5.87	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6038	0.45381	0.9275:0.0:0.0725:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CALD1	134270977	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.976000	0.70484	1.049000	0.40321	0.528000	0.53228	.			0.408	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339939.1		NM_033138	Intron	G	134620437	A	G	134620437	5	3	31	1	0	0	0	0	0	0	1	0	2583	86	3	4	1378	4	CALD1	7	134620437	Splice_Site	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10		134620437	24518226	30	2175											
ZNF786	136051	mdanderson.org	37	chr7	148768896	148768896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttctctccaagaggccGgcccctcccggctgtgctgg	3	8	13	17	2	1	1	0	0	1	1	4	1	3	1	6	5	1	2	6	5	1	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr7:148768896G>T	ENST00000491431.1	-	4	1032	c.968C>A	c.(967-969)cCg>cAg	p.P323Q	ZNF786_ENST00000451334.3_Missense_Mutation_p.P286Q|ZNF786_ENST00000316286.9_Missense_Mutation_p.P237Q	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	323					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)			CCAAGAGGCCGGCCCCTCCCG	0.711																																					p.P323Q													.	.			0			c.C968A												7	9	8					7																	148768896		1852	3914	5766	SO:0001583	missense	136051	exon4			GAGGCCGGCCCCT	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.968C>A	7.37:g.148768896G>T	ENSP00000417470:p.Pro323Gln		16	0	0		19	0.11	2	NM_152411	29	0	0	A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277999	0.40294	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.08634	3.07;3.22;3.14	3.71	1.89	0.25635	.	0.469242	0.16050	N	0.232007	T	0.16854	0.0405	M	0.90705	3.14	0.09310	N	1	P	0.42039	0.769	B	0.42882	0.401	T	0.10497	-1.0627	10	0.87932	D	0	-0.9002	6.2867	0.21037	0.2342:0.0:0.7658:0.0	.	323	Q8N393	ZN786_HUMAN	Q	237;237;323;286	ENSP00000313516:P237Q;ENSP00000417470:P323Q;ENSP00000404984:P286Q	ENSP00000313516:P237Q	P	-	2	0	ZNF786	148399829	0.008000	0.16893	0.002000	0.10522	0.001000	0.01503	0.327000	0.19663	0.381000	0.24851	-0.137000	0.14449	CCG			0.711	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352751.1		NM_152411		T	148768896	G	T	148768896	3	4	31	1	0	0	0	0	1	0	0	0	18181	1116	39	1	1384	1	ZNF786	7	148768896	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	14148459	148768896	10369767	31	2176											
RHEB	6009	broad.mit.edu	37	chr7	151188048	151188048	+	Nonsense_Mutation	SNP	G	G	C																															ctgttttctatggttggatcGtaggagtccacaaattggcc																										TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr7:151188048G>C	ENST00000262187.5	-	2	517	c.105C>G	c.(103-105)taC>taG	p.Y35*	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	35					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		TGGTTGGATCGTAGGAGTCCA	0.363																																					p.Y35X	Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)												RHEB,NS,carcinoma,-2,3	RHEB	30	3	0			c.C105G												103	101	101					7																	151188048		2203	4300	6503	SO:0001587	stop_gained	6009	exon2			TGGATCGTAGGAG	D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"Ras homolog enriched in brain 2"	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.105C>G	7.37:g.151188048G>C	ENSP00000262187:p.Tyr35*		103	0	0		95	0.04	4	NM_005614	299	0	1	B3KWN6|D3DX13|Q53Y56|Q99444	Nonsense_Mutation	SNP	ENST00000262187.5	37	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	G	38	7.217892	0.98143	.	.	ENSG00000106615	ENST00000262187	.	.	.	5.42	-2.72	0.05968	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.969	0.53053	0.6443:0.0:0.3557:0.0	.	.	.	.	X	35	.	ENSP00000262187:Y35X	Y	-	3	2	RHEB	150818981	0.938000	0.31826	0.980000	0.43619	0.995000	0.86356	0.097000	0.15168	-0.458000	0.07023	-0.140000	0.14226	TAC			0.363	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348468.2		NM_005614		C	151188048	G	C	151188048	4	2	31	1	0	0	0	0	0	1	0	0	13351	1140	40	5	477	5	RHEB	7	151188048	Nonsense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	2419152	151188048	7950615	32	2177	3	2									
RHEB	6009	hgsc.bcm.edu;broad.mit.edu	37	chr7	151188050	151188050	+	Missense_Mutation	SNP	A	A	G																															gttttctatggttggatcgtAggagtccacaaattggcctt																										TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr7:151188050A>G	ENST00000262187.5	-	2	515	c.103T>C	c.(103-105)Tac>Cac	p.Y35H	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	35					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.Y35N(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GTTGGATCGTAGGAGTCCACA	0.358																																					p.Y35H	Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)												RHEB,NS,carcinoma,0,3	RHEB	0	3	1	Substitution - Missense(1)	kidney(1)	c.T103C												103	100	101					7																	151188050		2203	4300	6503	SO:0001583	missense	6009	exon2			GATCGTAGGAGTC	D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"Ras homolog enriched in brain 2"	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.103T>C	7.37:g.151188050A>G	ENSP00000262187:p.Tyr35His		98	0	0		93	0.04	4	NM_005614	299	0.01	2	B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668912	0.88348	.	.	ENSG00000106615	ENST00000262187	T	0.81330	-1.48	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89242	0.3584	10	0.87932	D	0	.	13.3975	0.60863	1.0:0.0:0.0:0.0	.	35	Q15382	RHEB_HUMAN	H	35	ENSP00000262187:Y35H	ENSP00000262187:Y35H	Y	-	1	0	RHEB	150818983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.143000	0.89621	2.051000	0.60960	0.533000	0.62120	TAC			0.358	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348468.2		NM_005614		G	151188050	A	G	151188050	3	3	31	1	0	0	0	0	1	0	0	0	13351	420	15	4	479	4	RHEB	7	151188050	Missense_Mutation	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10	2	151188050	7950613	33	2178	3	2									
DLC1	10395	broad.mit.edu;bcgsc.ca	37	chr8	13357185	13357185	+	Frame_Shift_Del	DEL	C	C	-																															tgttggcctgatgttttctgCccttgggtatttaaaacctg																										TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr8:13357185delC	ENST00000276297.4	-	2	805	c.396delG	c.(394-396)gggfs	p.G132fs	DLC1_ENST00000511869.1_Frame_Shift_Del_p.G132fs|DLC1_ENST00000316609.5_Frame_Shift_Del_p.G132fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	132					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						ATGTTTTCTGCCCTTGGGTAT	0.428																																					p.G132fs													.	DLC1	411		0			c.396delG												157	158	158					8																	13357185		2203	4300	6503	SO:0001589	frameshift_variant	10395	exon2			TTTCTGCCCTTGG	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.396delG	8.37:g.13357185delC	ENSP00000276297:p.Gly132fs		176	0	0		125	0.15	19	NM_182643	2	0	0	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Frame_Shift_Del	DEL	ENST00000276297.4	37	CCDS5989.1																																																																																					0.428	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207632.2		NM_182643, NM_006094		-	13357185	C	-	13357185	7	5	31	1	0	1	0	1	0	0	0	0	4555	726	26	0	4343	0	DLC1	8	13357185	Frame_Shift_Del	DEL	C	TCGA-2G-AAGJ-01A-11D-A42Y-10		13357185	133006837	34	2179											
PCMTD1	115294	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr8	52733191	52733191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctttgaggaatccccttgGcctgcatctcatcatttatg	7	14	7	13	0	2	1	2	1	1	0	4	2	3	2	4	2	1	1	4	2	2	4			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr8:52733191G>A	ENST00000360540.5	-	7	1200	c.794C>T	c.(793-795)gCc>gTc	p.A265V	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A265V|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A189V|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	265						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATCCCCTTGGCCTGCATCTC	0.413																																					p.A265V													PCMTD1,NS,carcinoma,+1,1	PCMTD1	1	1	0			c.C794T												100	104	103					8																	52733191		2203	4297	6500	SO:0001583	missense	115294	exon6			CCCTTGGCCTGCA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.794C>T	8.37:g.52733191G>A	ENSP00000353739:p.Ala265Val		143	0	0		137	0.05	7	NM_052937	16	0	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511582	0.64522	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.40476	1.03;1.03;1.03	5.77	5.77	0.91146	.	0.057264	0.64402	D	0.000002	T	0.56702	0.2003	L	0.44542	1.39	0.52501	D	0.999951	P;D;B	0.71674	0.791;0.998;0.012	B;D;B	0.65684	0.272;0.937;0.011	T	0.43410	-0.9393	10	0.26408	T	0.33	-28.5971	19.9832	0.97338	0.0:0.0:1.0:0.0	.	135;189;265	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	V	265;189;265	ENSP00000353739:A265V;ENSP00000444026:A189V;ENSP00000428099:A265V	ENSP00000353739:A265V	A	-	2	0	PCMTD1	52895744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.494000	0.60347	2.722000	0.93159	0.655000	0.94253	GCC			0.413	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377909.2		NM_052937		A	52733191	G	A	52733191	3	1	31	1	0	0	0	0	1	0	0	0	11603	1203	42	2	283	2	PCMTD1	8	52733191	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	39376006	52733191	93630831	35	2180											
ZFPM2	23414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	106813720	106813720	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcttttcttacacaaaaatAaagtctgagccctctagccc	13	11	5	12	0	3	1	0	1	3	0	3	1	3	1	2	0	4	1	2	0	6	5			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr8:106813720A>T	ENST00000407775.2	+	8	1660	c.1410A>T	c.(1408-1410)atA>atT	p.I470I	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.I338I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.I338I|ZFPM2_ENST00000378472.4_Silent_p.I201I|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	470					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)			ACACAAAAATAAAGTCTGAGC	0.443																																					p.I470I													.	.			0			c.A1410T												81	87	85					8																	106813720		1859	4092	5951	SO:0001819	synonymous_variant	23414	exon8			AAAAATAAAGTCT	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.1410A>T	8.37:g.106813720A>T			62	0	0		87	0.23	20	NM_012082	8	0.25	2	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																					0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380614.1				T	106813720	A	T	106813720	2	4	31	1	0	0	0	0	0	0	0	1	17681	352	13	5		5	ZFPM2	8	106813720	Silent	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10	54080529	106813720	39550302	36	2181											
ARC	23237	broad.mit.edu	37	chr8	143694937	143694937	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagtactcctcagagccGcccacctgccgcaagtactc	9	6	8	18	2	1	1	1	0	0	1	3	1	2	1	6	0	5	3	6	0	3	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr8:143694937G>A	ENST00000356613.2	-	1	1896	c.696C>T	c.(694-696)ggC>ggT	p.G232G	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)	p.G232G(1)		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)				CCTCAGAGCCGCCCACCTGCC	0.637																																					p.G232G													ARC,caecum,carcinoma,0,1	ARC	34	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C696T												27	28	28					8																	143694937		2177	4264	6441	SO:0001819	synonymous_variant	23237	exon1			AGAGCCGCCCACC	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.696C>T	8.37:g.143694937G>A			68	0.0147058824	1		53	0.08	4	NM_015193	1	0	0	B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	CCDS34950.1																																																																																					0.637	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259274.2				A	143694937	G	A	143694937	2	1	31	1	0	0	0	0	0	0	0	1	841	1074	38	1		1	ARC	8	143694937	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	36881217	143694937	2669085	37	2182											
C9orf150	286343	hgsc.bcm.edu;broad.mit.edu	37	chr9	12821707	12821707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcatagaggactcacAggcactacacaagcgtccta	12	7	7	15	1	2	1	2	0	0	1	4	2	4	2	2	2	2	1	2	2	4	3	rs199636506		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr9:12821707A>G	ENST00000319264.3	+	2	1330	c.635A>G	c.(634-636)cAg>cGg	p.Q212R		NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	215																	GAGGACTCACAGGCACTACAC	0.478																																					p.Q212R													.	.			0			c.A635G							A	ARG/GLN	0,4406		0,0,2203	186	169	175		635	5.3	0.8	9		175	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C9orf150	NM_203403.1	43	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	benign	212/229	12821707	2,13004	2203	4300	6503	SO:0001583	missense	286343	exon2			ACTCACAGGCACT	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"		"chromosome 9 open reading frame 150"	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.635A>G	9.37:g.12821707A>G	ENSP00000321026:p.Gln212Arg		83	0	0		90	0.04	4	NM_203403	2	0	0	Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604771	0.28623	0.0	2.33E-4	ENSG00000153714	ENST00000319264	T	0.44881	0.91	5.29	5.29	0.74685	.	0.511996	0.19155	N	0.121344	T	0.32556	0.0833	N	0.24115	0.695	0.09310	N	1	B	0.26258	0.145	B	0.21708	0.036	T	0.32587	-0.9901	10	0.66056	D	0.02	.	15.5259	0.75905	1.0:0.0:0.0:0.0	.	215	Q8IV03	CI150_HUMAN	R	212	ENSP00000321026:Q212R	ENSP00000321026:Q212R	Q	+	2	0	C9orf150	12811707	0.995000	0.38212	0.838000	0.33150	0.724000	0.41520	6.239000	0.72356	2.130000	0.65690	0.460000	0.39030	CAG			0.478	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051730.1		NM_203403		G	12821707	A	G	12821707	3	3	31	1	0	0	0	0	1	0	0	0	2464	188	7	4	641	4	C9orf150	9	12821707	Missense_Mutation	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10		12821707	128391724	38	2183											
CDKN2B	1030	mdanderson.org	37	chr9	22006138	22006138	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtccaggaagccctcccGggcagcatcatgcaccggtc	7	6	12	16	3	1	0	1	0	0	0	4	1	3	1	4	3	3	3	4	3	1	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr9:22006138G>T	ENST00000276925.6	-	2	674	c.265C>A	c.(265-267)Cgg>Agg	p.R89R	CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	89					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|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 cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|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)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		AAGCCCTCCCGGGCAGCATCA	0.731																																					p.R89R													.	.			2	Whole gene deletion(2)	lung(2)	c.C265A												17	22	21					9																	22006138		2192	4286	6478	SO:0001819	synonymous_variant	1030	exon2			CCTCCCGGGCAGC	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.265C>A	9.37:g.22006138G>T			25	0	0		27	0.11	3	NM_004936	3	0	0	O15125|Q6FI09	Silent	SNP	ENST00000276925.6	37	CCDS6512.1																																																																																					0.731	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051932.2		NM_004936		T	22006138	G	T	22006138	2	4	31	1	0	0	0	0	0	0	0	1	3166	1115	39	1		1	CDKN2B	9	22006138	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	9184431	22006138	119207293	39	2184											
WNK2	65268	mdanderson.org	37	chr9	95947607	95947607	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaccccatcgcagccgcTgtcgaaaccgcgcctgcccc	6	4	10	21	6	0	0	0	0	0	0	2	2	0	1	8	1	3	2	8	1	1	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr9:95947607T>A	ENST00000297954.4	+	1	396	c.396T>A	c.(394-396)gcT>gcA	p.A132A	WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395475.2_Silent_p.A118A|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.A132A	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	132					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						TCGCAGCCGCTGTCGAAACCG	0.796																																					p.A132A													.	.			0			c.T396A												2	3	3					9																	95947607		1250	2797	4047	SO:0001819	synonymous_variant	65268	exon1			AGCCGCTGTCGAA	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.396T>A	9.37:g.95947607T>A			10	0	0		26	0.12	3	NM_006648	14	0	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.	.	.	.	.	.	.	.	.	.	t	2.202	-0.382730	0.04966	.	.	ENSG00000165238	ENST00000432730	.	.	.	2.5	-4.99	0.03010	.	.	.	.	.	T	0.15739	0.0379	.	.	.	0.22081	N	0.999375	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	.	0.2409	0.00192	0.3445:0.2041:0.2362:0.2153	.	.	.	.	Q	128	.	.	L	+	2	0	WNK2	94987428	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.893000	0.00708	-1.456000	0.01921	-0.444000	0.05651	CTG			0.796	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000317359.1		NM_006648		A	95947607	T	A	95947607	2	1	31	1	0	0	0	0	0	0	0	1	17402	1567	55	5		5	WNK2	9	95947607	Silent	SNP	T	TCGA-2G-AAGJ-01A-11D-A42Y-10	73941469	95947607	45265824	40	2185											
CYP17A1	1586	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr10	104593813	104593813	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtaattttcaagtatttTattcagcagatcatttcgta	11	19	5	6	1	3	1	3	0	0	1	4	1	3	1	0	0	1	4	0	0	5	10			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr10:104593813T>A	ENST00000369887.3	-	4	904	c.733A>T	c.(733-735)Aaa>Taa	p.K245*	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	245					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)	TCAAGTATTTTATTCAGCAGA	0.353																																					p.K245X													.	.			0			c.A733T												130	119	123					10																	104593813		2203	4298	6501	SO:0001587	stop_gained	1586	exon4			GTATTTTATTCAG	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.733A>T	10.37:g.104593813T>A	ENSP00000358903:p.Lys245*		94	0	0		154	0.23	35	NM_000102	1	1	1	Q5TZV7	Nonsense_Mutation	SNP	ENST00000369887.3	37	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	t	15.61	2.885368	0.51908	.	.	ENSG00000148795	ENST00000369887	.	.	.	4.85	-5.29	0.02747	.	1.364190	0.04280	N	0.343772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8446	0.29419	0.0:0.4691:0.2131:0.3178	.	.	.	.	X	245	.	ENSP00000358903:K245X	K	-	1	0	CYP17A1	104583803	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.167000	0.09940	-0.938000	0.03714	-0.473000	0.04963	AAA			0.353	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050101.1		NM_000102		A	104593813	T	A	104593813	4	1	31	1	0	0	0	0	0	1	0	0	4149	1763	61	5	813	5	CYP17A1	10	104593813	Nonsense_Mutation	SNP	T	TCGA-2G-AAGJ-01A-11D-A42Y-10		104593813	30940934	41	2186											
LUZP2	338645	mdanderson.org	37	chr11	24998198	24998198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaaatgaactggagaaagCagctcttgacagggtaagtc	16	7	11	7	0	1	3	0	2	1	1	2	4	1	3	0	2	3	3	0	2	5	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr11:24998198C>T	ENST00000336930.6	+	8	650	c.584C>T	c.(583-585)gCa>gTa	p.A195V	LUZP2_ENST00000533227.1_Missense_Mutation_p.A109V			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	195						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTGGAGAAAGCAGCTCTTGAC	0.323																																					p.A195V													.	.			0			c.C584T												57	61	60					11																	24998198		2203	4299	6502	SO:0001583	missense	338645	exon8			AGAAAGCAGCTCT	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.584C>T	11.37:g.24998198C>T	ENSP00000336817:p.Ala195Val		47	0	0		52	0.06	3	NM_001009909	0		0	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286397	0.80803	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.26373	1.74;1.74;1.74	5.15	5.15	0.70609	.	0.063755	0.64402	D	0.000009	T	0.41305	0.1153	L	0.34521	1.04	0.41654	D	0.98914	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.24905	-1.0147	10	0.56958	D	0.05	-15.974	16.4555	0.84011	0.0:1.0:0.0:0.0	.	109;195	E9PN53;Q86TE4	.;LUZP2_HUMAN	V	195;153;109	ENSP00000336817:A195V;ENSP00000437032:A153V;ENSP00000432952:A109V	ENSP00000336817:A195V	A	+	2	0	LUZP2	24954774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.756000	0.68757	2.540000	0.85666	0.650000	0.86243	GCA			0.323	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387861.1		NM_001009909		T	24998198	C	T	24998198	3	4	31	1	0	0	0	0	1	0	0	0	9103	710	25	2	614	2	LUZP2	11	24998198	Missense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10		24998198	110008318	42	2187											
OR5J2	282775	broad.mit.edu;ucsc.edu	37	chr11	55944605	55944605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagactgtccttttgtaggcTaaatgctgtcagccacttct	8	14	9	10	0	2	1	1	0	1	1	3	2	3	1	2	1	2	3	2	1	3	5			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr11:55944605T>C	ENST00000312298.1	+	1	512	c.512T>C	c.(511-513)cTa>cCa	p.L171P		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	171						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)					TTTTGTAGGCTAAATGCTGTC	0.438																																					p.L171P													OR5J2,right_upper_lobe,carcinoma,+1,1	OR5J2	98	1	0			c.T512C												168	145	153					11																	55944605		2201	4296	6497	SO:0001583	missense	282775	exon1			GTAGGCTAAATGC	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.512T>C	11.37:g.55944605T>C	ENSP00000310788:p.Leu171Pro		153	0.0130718954	2		141	0.13	19	NM_001005492	0		0	Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	T	3.010	-0.204166	0.06180	.	.	ENSG00000174957	ENST00000312298	T	0.35789	1.29	4.73	-2.95	0.05564	GPCR, rhodopsin-like superfamily (1);	0.603575	0.15120	N	0.279458	T	0.05777	0.0151	N	0.00060	-2.34	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43343	-0.9397	10	0.28530	T	0.3	.	6.2849	0.21027	0.1146:0.4209:0.0:0.4645	.	171	Q8NH18	OR5J2_HUMAN	P	171	ENSP00000310788:L171P	ENSP00000310788:L171P	L	+	2	0	OR5J2	55701181	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.153000	0.16323	-0.811000	0.04369	-1.359000	0.01217	CTA			0.438	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391544.1		NM_001005492		C	55944605	T	C	55944605	3	2	31	1	0	0	0	0	1	0	0	0	11182	1522	53	4	514	4	OR5J2	11	55944605	Missense_Mutation	SNP	T	TCGA-2G-AAGJ-01A-11D-A42Y-10	30946407	55944605	79061911	43	2188											
C11orf9	745	mdanderson.org	37	chr11	61537733	61537733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagccccacctcctgcGcacgataacccctgagacac	10	5	8	18	2	0	2	0	1	0	2	1	4	1	2	6	0	4	2	6	0	1	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr11:61537733G>T	ENST00000278836.5	+	5	572	c.476G>T	c.(475-477)cGc>cTc	p.R159L	MYRF_ENST00000265460.5_Missense_Mutation_p.R150L|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	159	Pro-rich.				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)										CACCTCCTGCGCACGATAACC	0.682																																					p.R159L													.	.			0			c.G476T												23	21	22					11																	61537733		2199	4299	6498	SO:0001583	missense	745	exon5			TCCTGCGCACGAT		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.476G>T	11.37:g.61537733G>T	ENSP00000278836:p.Arg159Leu		63	0	0		62	0.05	3	NM_001127392	0		0	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456801	0.63401	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.46819	0.86;0.87	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.81914	0.992;0.995	T	0.54084	-0.8346	10	0.30854	T	0.27	-37.2977	18.2123	0.89874	0.0:0.0:1.0:0.0	.	150;159	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	L	159;150	ENSP00000278836:R159L;ENSP00000265460:R150L	ENSP00000265460:R150L	R	+	2	0	C11orf9	61294309	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	8.528000	0.90598	2.469000	0.83416	0.549000	0.68633	CGC			0.682	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000398519.2		NM_013279		T	61537733	G	T	61537733	3	4	31	1	0	0	0	0	1	0	0	0	1673	1087	38	1	517	1	C11orf9	11	61537733	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	5593128	61537733	73468783	44	2189											
FADD	8772	mdanderson.org	37	chr11	70049843	70049843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggccggggccgcgcctgGggaagaaggtgggcgcgggg	4	2	25	10	6	0	1	0	0	0	1	0	2	0	2	3	10	0	0	3	10	2	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr11:70049843G>T	ENST00000301838.4	+	1	575	c.278G>T	c.(277-279)gGg>gTg	p.G93V	RP11-805J14.5_ENST00000526174.1_RNA|RP11-805J14.5_ENST00000527232.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	93					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			gccgcgcctggggaagaaggt	0.791																																					p.G93V													.	.			0			c.G278T												4	5	5					11																	70049843		891	2003	2894	SO:0001583	missense	8772	exon1			CGCCTGGGGAAGA	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"Fas-associating protein with death domain", "Fas-associating death domain-containing protein", "mediator of receptor-induced toxicity", "growth-inhibiting gene 3 protein"	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.278G>T	11.37:g.70049843G>T	ENSP00000301838:p.Gly93Val		17	0	0		16	0.13	2	NM_003824	53	0	0	Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954503	0.34471	.	.	ENSG00000168040	ENST00000301838	D	0.82344	-1.6	3.62	-5.36	0.02689	Death (1);DEATH-like (2);	2.205680	0.01595	N	0.021778	T	0.74015	0.3661	L	0.48642	1.525	0.21984	N	0.999436	B	0.22003	0.063	B	0.12837	0.008	T	0.55398	-0.8147	10	0.30078	T	0.28	-7.7083	5.3597	0.16081	0.4533:0.2618:0.2849:0.0	.	93	Q13158	FADD_HUMAN	V	93	ENSP00000301838:G93V	ENSP00000301838:G93V	G	+	2	0	FADD	69727491	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.076000	0.01373	-0.923000	0.03785	0.491000	0.48974	GGG			0.791	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393902.1		NM_003824		T	70049843	G	T	70049843	3	4	31	1	0	0	0	0	1	0	0	0	5374	1232	43	3	280	3	FADD	11	70049843	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	8512110	70049843	64956673	45	2190											
ARHGEF17	9828	mdanderson.org	37	chr11	73073275	73073275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccgggctgcagcctcGctgccaccggtgaggcctgg	3	6	17	15	3	0	1	0	1	0	0	1	1	0	1	5	5	4	3	5	5	0	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr11:73073275G>A	ENST00000263674.3	+	13	5035	c.4685G>A	c.(4684-4686)cGc>cAc	p.R1562H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1562					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTGCAGCCTCGCTGCCACCGG	0.751																																					p.R1562H													.	.			0			c.G4685A												6	6	6					11																	73073275		1988	3842	5830	SO:0001583	missense	9828	exon13			AGCCTCGCTGCCA	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4685G>A	11.37:g.73073275G>A	ENSP00000263674:p.Arg1562His		19	0	0		20	0.1	2	NM_014786	8	0	0	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890986	0.52014	.	.	ENSG00000110237	ENST00000263674	T	0.58652	0.32	5.21	0.0954	0.14485	.	1.458560	0.03810	N	0.265812	T	0.43809	0.1264	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35798	-0.9774	10	0.66056	D	0.02	-0.1195	6.0987	0.20035	0.4662:0.1391:0.3947:0.0	.	1562	Q96PE2	ARHGH_HUMAN	H	1562	ENSP00000263674:R1562H	ENSP00000263674:R1562H	R	+	2	0	ARHGEF17	72750923	0.993000	0.37304	0.000000	0.03702	0.144000	0.21451	0.923000	0.28757	-0.165000	0.10908	-0.140000	0.14226	CGC			0.751	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397365.1		NM_014786		A	73073275	G	A	73073275	3	1	31	1	0	0	0	0	1	0	0	0	900	1087	38	1	4735	1	ARHGEF17	11	73073275	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	3023432	73073275	61933241	46	2191											
WNK1	65125	broad.mit.edu	37	chr12	1017711	1017711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgacctcgaacctgggtgGctctgcccccatctctgcag	6	9	10	16	1	2	1	0	1	2	0	4	2	2	1	4	2	3	2	4	2	1	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr12:1017711G>T	ENST00000315939.6	+	28	7545	c.6902G>T	c.(6901-6903)gGc>gTc	p.G2301V	WNK1_ENST00000340908.4_Missense_Mutation_p.G1894V|WNK1_ENST00000535572.1_Missense_Mutation_p.G2053V|WNK1_ENST00000530271.2_Missense_Mutation_p.G2799V|WNK1_ENST00000537687.1_Missense_Mutation_p.G2561V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2301					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)			AACCTGGGTGGCTCTGCCCCC	0.552																																					p.G2561V	Colon(19;451 567 6672 12618 28860)												.	WNK1	403		0			c.G7682T												95	81	86					12																	1017711		2203	4300	6503	SO:0001583	missense	65125	exon28			TGGGTGGCTCTGC	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.6902G>T	12.37:g.1017711G>T	ENSP00000313059:p.Gly2301Val		222	0.0225225225	5		406	0.03	11	NM_001184985	258	0	0	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857001	0.51376	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908	D;D;D;D;T	0.82984	-1.63;-1.63;-1.56;-1.67;-0.45	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000043	D	0.89791	0.6817	M	0.63843	1.955	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.986	D;P;P	0.68039	0.955;0.9;0.796	D	0.88903	0.3354	10	0.49607	T	0.09	-4.5688	19.4909	0.95049	0.0:0.0:1.0:0.0	.	2054;2053;2301	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	2053;2301;2561;1474;2799;243;1894	ENSP00000441972:G2053V;ENSP00000313059:G2301V;ENSP00000444465:G2561V;ENSP00000433548:G2799V;ENSP00000341292:G1894V	ENSP00000252477:G1474V	G	+	2	0	WNK1	887972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.271000	0.65553	2.847000	0.97988	0.591000	0.81541	GGC			0.552	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206683.1		NM_018979		T	1017711	G	T	1017711	3	4	31	1	0	0	0	0	1	0	0	0	17401	1203	42	2	8514	2	WNK1	12	1017711	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		1017711	132834184	47	2192											
GPD1	2819	bcgsc.ca	37	chr12	50501424	50501424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accaaggcggcagtgatccgGctgggactcatggagatgat	10	7	15	9	2	1	3	1	2	0	1	2	5	2	4	2	5	0	2	2	5	1	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr12:50501424G>A	ENST00000301149.3	+	6	919	c.687G>A	c.(685-687)cgG>cgA	p.R229R	GPD1_ENST00000547190.1_Intron|GPD1_ENST00000548814.1_Silent_p.R206R	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	229					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)	p.R229R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGTGATCCGGCTGGGACTCA	0.577																																					p.R229R	NSCLC(141;1402 1905 9497 13391 44868)												GPD1,NS,carcinoma,0,1	GPD1	23	1	1	Substitution - coding silent(1)	endometrium(1)	c.G687A												155	144	148					12																	50501424		2203	4300	6503	SO:0001819	synonymous_variant	2819	exon6			GATCCGGCTGGGA		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.687G>A	12.37:g.50501424G>A			92	0	0		130	0.05	6	NM_005276	2	0	0	F8W1L5|Q8N1B0	Silent	SNP	ENST00000301149.3	37	CCDS8799.1																																																																																					0.577	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406018.1				A	50501424	G	A	50501424	2	1	31	1	0	0	0	0	0	0	0	1	6618	1190	42	2		2	GPD1	12	50501424	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	49483713	50501424	83350471	48	2193											
MUCL1	118430	mdanderson.org	37	chr12	55250643	55250643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctaccactgcaaccaccGctgcttctaccactgctcgt	7	10	5	19	2	1	0	0	0	1	0	3	0	2	0	5	0	6	4	5	0	3	3			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr12:55250643G>A	ENST00000308796.6	+	3	236	c.190G>A	c.(190-192)Gct>Act	p.A64T	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.A59T	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	64	3 X 8 AA tandem repeat of T-T-A-A-[APS]- T-T-A.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|membrane (GO:0016020)				breast(1)|kidney(1)|lung(1)	3						tgcaaccaccgctgcttctac	0.507																																					p.A64T													.	.			0			c.G190A												155	132	139					12																	55250643		2203	4300	6503	SO:0001583	missense	118430	exon3			ACCACCGCTGCTT	AF414087	CCDS8885.1	12q13.2	2007-07-02							30588	protein-coding gene	gene with protein product	"small breast epithelial mucin"	610857				12019145	Standard	NM_058173		Approved	SBEM	uc001sgk.3	Q96DR8		ENST00000308796.6:c.190G>A	12.37:g.55250643G>A	ENSP00000311364:p.Ala64Thr		70	0	0		85	0.05	4	NM_058173	1	0	0	Q0VG95|Q32ZB5	Missense_Mutation	SNP	ENST00000308796.6	37	CCDS8885.1	.	.	.	.	.	.	.	.	.	.	G	3.942	-0.014051	0.07681	.	.	ENSG00000172551	ENST00000546809;ENST00000308796	.	.	.	2.54	-5.09	0.02920	.	0.585900	0.09776	N	0.757264	T	0.24084	0.0583	.	.	.	0.09310	N	1	B	0.19706	0.038	B	0.06405	0.002	T	0.15009	-1.0452	8	0.87932	D	0	.	2.2565	0.04056	0.5238:0.1373:0.2001:0.1388	.	64	Q96DR8	MUCL1_HUMAN	T	59;64	.	ENSP00000311364:A64T	A	+	1	0	MUCL1	53536910	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.725000	0.00808	-2.157000	0.00789	-0.657000	0.03884	GCT			0.507	MUCL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406062.1		NM_058173		A	55250643	G	A	55250643	3	1	31	1	0	0	0	0	1	0	0	0	9998	1087	38	1	200	1	MUCL1	12	55250643	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	4749219	55250643	78601252	49	2194											
ATP2B1	490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	90018056	90018056	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaataatgaagaacttcacAaagtattgtatataaattgg	18	12	6	5	0	1	2	1	1	0	1	1	2	1	2	1	1	1	2	1	1	10	8			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr12:90018056A>G	ENST00000428670.3	-	9	1704	c.1248T>C	c.(1246-1248)ttT>ttC	p.F416F	ATP2B1_ENST00000359142.3_Silent_p.F416F|ATP2B1_ENST00000393164.2_Silent_p.F159F|ATP2B1_ENST00000261173.2_Silent_p.F416F|ATP2B1_ENST00000348959.3_Silent_p.F416F			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	416					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AGAACTTCACAAAGTATTGTA	0.388																																					p.F416F													ATP2B1_ENST00000359142,NS,carcinoma,-1,2	ATP2B1_ENST00000359142	-1	2	0			c.T1248C												81	75	77					12																	90018056		2203	4300	6503	SO:0001819	synonymous_variant	490	exon8			CTTCACAAAGTAT	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1248T>C	12.37:g.90018056A>G			205	0	0		247	0.12	30	NM_001001323	18	0.33	6	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	CCDS9035.1																																																																																					0.388	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406653.1		NM_001682		G	90018056	A	G	90018056	2	3	31	1	0	0	0	0	0	0	0	1	1139	127	5	4		4	ATP2B1	12	90018056	Silent	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10	34767413	90018056	43833839	50	2195											
PWP1	11137	mdanderson.org	37	chr12	108105950	108105950	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcaagaaattcatctattAgtggcccttttggcagcagg	10	12	11	8	0	2	1	1	0	1	1	2	1	2	1	1	3	2	3	1	3	4	5			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr12:108105950A>T	ENST00000412830.3	+	15	1627	c.1459A>T	c.(1459-1461)Agt>Tgt	p.S487C	PWP1_ENST00000541166.1_Missense_Mutation_p.S425C	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	487					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TTCATCTATTAGTGGCCCTTT	0.383																																					p.S487C													.	.			0			c.A1459T												139	132	134					12																	108105950		2203	4300	6503	SO:0001583	missense	11137	exon15			TCTATTAGTGGCC	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1459A>T	12.37:g.108105950A>T	ENSP00000387365:p.Ser487Cys		73	0	0		98	0.05	5	NM_007062	586	0	0	A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	A	5.978	0.364355	0.11296	.	.	ENSG00000136045	ENST00000412830;ENST00000541166	T;T	0.71461	-0.54;-0.57	5.86	3.5	0.40072	.	0.521299	0.24436	N	0.038549	T	0.54224	0.1845	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47209	-0.9135	10	0.52906	T	0.07	.	2.8099	0.05439	0.5582:0.1271:0.0699:0.2448	.	487	Q13610	PWP1_HUMAN	C	487;425	ENSP00000387365:S487C;ENSP00000445249:S425C	ENSP00000387365:S487C	S	+	1	0	PWP1	106630080	0.009000	0.17119	0.010000	0.14722	0.053000	0.15095	1.029000	0.30140	1.133000	0.42147	0.528000	0.53228	AGT			0.383	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406539.1		NM_007062		T	108105950	A	T	108105950	3	4	31	1	0	0	0	0	1	0	0	0	12866	420	15	5	1517	5	PWP1	12	108105950	Missense_Mutation	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10	18087894	108105950	25745945	51	2196											
CLIP1	6249	broad.mit.edu	37	chr12	122812693	122812694	+	Frame_Shift_Ins	INS	-	-	T																															ctgacactggttgtggcttgINStttccattttcttttcctgc																								rs77289752	byFrequency	TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr12:122812693_122812694insT	ENST00000540338.1	-	16	3090_3091	c.3049_3050insA	c.(3049-3051)acafs	p.T1017fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.T592fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.T971fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.T1006fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.T1006fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.T895fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1017					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTTGTGGCTTGTTTCCATTTTC	0.505																																					p.T1017fs													.	CLIP1	126		0			c.3050_3051insA																																									SO:0001589	frameshift_variant	6249	exon17			TGGCTTGTTTCCA		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3050dupA	12.37:g.122812696_122812696dupT	ENSP00000439093:p.Thr1017fs		157	0	0		233	0.03	8	NM_001247997	200	0	0	A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	CCDS58285.1																																																																																					0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000401625.1		NM_002956		T	122812694	-	T	122812693	7	5	31	1	0	1	1	0	0	0	0	0	3534	1377	48	0	1306	0	CLIP1	12	122812693	Frame_Shift_Ins	INS	-	TCGA-2G-AAGJ-01A-11D-A42Y-10	14706743	122812693	11039202	52	2197											
TTC7B	145567	mdanderson.org	37	chr14	91044550	91044550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggagctcagcaatctggCcgcgcatgtagaggacattg	9	7	13	12	3	2	1	1	0	1	1	2	3	2	3	2	3	2	4	2	3	2	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr14:91044550C>T	ENST00000328459.6	-	19	2331	c.2210G>A	c.(2209-2211)gGc>gAc	p.G737D	TTC7B_ENST00000357056.2_Missense_Mutation_p.G754D|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	737										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGCAATCTGGCCGCGCATGTA	0.592																																					p.G737D													.	.			0			c.G2210A												112	93	99					14																	91044550		2203	4300	6503	SO:0001583	missense	145567	exon19			ATCTGGCCGCGCA	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2210G>A	14.37:g.91044550C>T	ENSP00000336127:p.Gly737Asp		143	0	0		125	0.04	5	NM_001010854	50	0	0	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393020	0.83011	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972	T;T;T	0.66995	-0.24;-0.24;-0.24	5.48	4.57	0.56435	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	0.055136	0.64402	D	0.000001	D	0.85423	0.5693	M	0.92219	3.285	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.70016	0.967;0.787	D	0.89457	0.3734	10	0.87932	D	0	-11.0376	16.1412	0.81522	0.0:0.8663:0.1337:0.0	.	737;754	Q86TV6;Q86TV6-2	TTC7B_HUMAN;.	D	635;754;737;224	ENSP00000349564:G754D;ENSP00000336127:G737D;ENSP00000451440:G224D	ENSP00000336127:G737D	G	-	2	0	TTC7B	90114303	1.000000	0.71417	0.997000	0.53966	0.482000	0.33219	7.751000	0.85126	1.273000	0.44346	0.655000	0.94253	GGC			0.592	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411364.2				T	91044550	C	T	91044550	3	4	31	1	0	0	0	0	1	0	0	0	16737	739	26	2	329	2	TTC7B	14	91044550	Missense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10		91044550	16304990	53	2198											
RBPMS2	348093	mdanderson.org	37	chr15	65043817	65043817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgtccacagggaggccGctgacaaacagtgtccggac	11	7	12	11	2	0	1	0	1	0	0	2	3	2	3	3	3	1	1	3	3	2	1	rs372396252		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr15:65043817G>A	ENST00000300069.4	-	2	375	c.108C>T	c.(106-108)agC>agT	p.S36S	RBPMS2_ENST00000560606.1_5'UTR	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	36	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CAGGGAGGCCGCTGACAAACA	0.607																																					p.S36S													.	.			0			c.C108T							G		0,4404		0,0,2202	65	66	65		108	1.3	1	15		65	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RBPMS2	NM_194272.1		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		36/210	65043817	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	348093	exon2			GAGGCCGCTGACA	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"RNA binding motif (RRM) containing"	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.108C>T	15.37:g.65043817G>A			45	0	0		48	0.08	4	NM_194272	160	0	0	A2RRG0	Silent	SNP	ENST00000300069.4	37	CCDS32271.1																																																																																					0.607	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418466.1				A	65043817	G	A	65043817	2	1	31	1	0	0	0	0	0	0	0	1	13187	1078	38	1		1	RBPMS2	15	65043817	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		65043817	37487575	54	2199											
IQGAP1	8826	mdanderson.org	37	chr15	91035814	91035814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtaccgacagaggagaaAggccgaactagtgaaactgc	15	4	14	8	2	0	3	0	1	0	2	0	7	0	3	2	3	4	1	2	3	5	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr15:91035814A>G	ENST00000268182.5	+	35	4623	c.4499A>G	c.(4498-4500)aAg>aGg	p.K1500R	IQGAP1_ENST00000560738.1_Missense_Mutation_p.K928R	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1500	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAGAGGAGAAAGGCCGAACTA	0.398																																					p.K1500R													.	.			0			c.A4499G												97	90	93					15																	91035814		2198	4298	6496	SO:0001583	missense	8826	exon35			GGAGAAAGGCCGA	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4499A>G	15.37:g.91035814A>G	ENSP00000268182:p.Lys1500Arg		50	0	0		52	0.06	3	NM_003870	321	0	0	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672292	0.88348	.	.	ENSG00000140575	ENST00000268182	T	0.44482	0.92	6.07	6.07	0.98685	RasGAP protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.31752	0.955	0.80722	D	1	P;P	0.37141	0.584;0.584	B;P	0.47134	0.364;0.539	T	0.27536	-1.0071	10	0.33940	T	0.23	-34.1353	15.8088	0.78538	1.0:0.0:0.0:0.0	.	121;1500	B4DNP4;P46940	.;IQGA1_HUMAN	R	1500	ENSP00000268182:K1500R	ENSP00000268182:K1500R	K	+	2	0	IQGAP1	88836818	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.414000	0.80117	2.330000	0.79161	0.528000	0.53228	AAG			0.398	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313493.1		NM_003870		G	91035814	A	G	91035814	3	3	31	1	0	0	0	0	1	0	0	0	7829	72	3	4	4637	4	IQGAP1	15	91035814	Missense_Mutation	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10	25991997	91035814	11495578	55	2200											
TELO2	9894	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	1552339	1552339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgtctgaggacatagaGcgctgggaggcagccctgcg	9	5	15	12	3	1	2	0	1	1	1	1	4	1	4	2	3	3	2	2	3	1	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr16:1552339G>T	ENST00000262319.6	+	13	1866	c.1587G>T	c.(1585-1587)gaG>gaT	p.E529D	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	529					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGGACATAGAGCGCTGGGAGG	0.692																																					p.E529D													.	.			0			c.G1587T												8	10	9					16																	1552339		2150	4211	6361	SO:0001583	missense	9894	exon13			CATAGAGCGCTGG	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1587G>T	16.37:g.1552339G>T	ENSP00000262319:p.Glu529Asp		74	0	0		56	0.16	9	NM_016111	130	0.29	38	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.733239	0.30684	.	.	ENSG00000100726	ENST00000262319	T	0.35236	1.32	5.3	2.22	0.28083	Telomere length regulation protein, conserved domain (1);	0.290468	0.36519	N	0.002554	T	0.17619	0.0423	N	0.16602	0.42	0.41410	D	0.987738	B	0.30973	0.302	B	0.31869	0.137	T	0.07481	-1.0770	10	0.15499	T	0.54	-22.9972	4.7748	0.13173	0.3403:0.1483:0.5114:0.0	.	529	Q9Y4R8	TELO2_HUMAN	D	529	ENSP00000262319:E529D	ENSP00000262319:E529D	E	+	3	2	TELO2	1492340	1.000000	0.71417	0.953000	0.39169	0.457000	0.32468	1.344000	0.33941	0.228000	0.21019	0.462000	0.41574	GAG			0.692	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103602.2		NM_016111		T	1552339	G	T	1552339	3	4	31	1	0	0	0	0	1	0	0	0	15780	962	34	2	1633	2	TELO2	16	1552339	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		1552339	88802414	56	2201											
PALB2	79728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	23614909	23614909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagggcagtacactgaccGagaagtaagtcccaaatggc	14	5	13	9	1	0	2	0	1	0	1	1	4	1	3	2	3	1	3	2	3	4	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr16:23614909G>A	ENST00000261584.4	-	13	3584	c.3432C>T	c.(3430-3432)ctC>ctT	p.L1144L	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1144	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				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)		TACACTGACCGAGAAGTAAGT	0.473			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																													p.L1144L			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	.	.			0			c.C3432T												109	94	99					16																	23614909		2197	4300	6497	SO:0001819	synonymous_variant	79728	exon13			CTGACCGAGAAGT		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.3432C>T	16.37:g.23614909G>A			134	0	0		106	0.08	8	NM_024675	151	0.25	38	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	CCDS32406.1																																																																																					0.473	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435287.2		NM_024675		A	23614909	G	A	23614909	2	1	31	1	0	0	0	0	0	0	0	1	11423	1045	37	1		1	PALB2	16	23614909	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	22062570	23614909	66739844	57	2202											
ZNF785	146540	mdanderson.org	37	chr16	30594139	30594139	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagggaagaataggtgaaGcggcggccgcagtcaggaca	13	3	18	7	3	1	2	1	1	0	1	1	5	1	5	1	6	1	1	1	6	4	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr16:30594139G>T	ENST00000395216.2	-	3	1119	c.960C>A	c.(958-960)cgC>cgA	p.R320R	ZNF785_ENST00000470110.1_Silent_p.R305R|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	320					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						AATAGGTGAAGCGGCGGCCGC	0.642																																					p.R320R													.	.			0			c.C960A												53	61	58					16																	30594139		2197	4300	6497	SO:0001819	synonymous_variant	146540	exon3			GGTGAAGCGGCGG	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.960C>A	16.37:g.30594139G>T			47	0	0		35	0.09	3	NM_152458	9	0	0	O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	37	CCDS10685.1																																																																																					0.642	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255529.2		NM_152458		T	30594139	G	T	30594139	2	4	31	1	0	0	0	0	0	0	0	1	18180	958	34	2		2	ZNF785	16	30594139	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	6979230	30594139	59760614	58	2203											
GPR114	221188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	57600650	57600650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaaccacctcacctactTtgctgttctcatggtatgta	8	14	6	13	0	2	0	2	0	1	0	3	0	2	0	3	1	4	5	3	1	4	5			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr16:57600650T>C	ENST00000340339.4	+	7	1209	c.686T>C	c.(685-687)tTt>tCt	p.F229S	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.F229S	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	229	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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						CTCACCTACTTTGCTGTTCTC	0.607																																					p.F229S													.	.			0			c.T686C												62	55	58					16																	57600650		2198	4300	6498	SO:0001583	missense	221188	exon7			CCTACTTTGCTGT	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.686T>C	16.37:g.57600650T>C	ENSP00000342981:p.Phe229Ser		33	0	0		27	0.22	6	NM_153837	14	0.14	2	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493984	0.84962	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	D;D	0.87179	-2.22;-2.22	5.14	5.14	0.70334	GPS domain (3);	0.119958	0.37761	N	0.001953	D	0.95620	0.8576	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96660	0.9488	10	0.87932	D	0	.	12.3636	0.55217	0.0:0.0:0.0:1.0	.	229;229	B4E148;Q8IZF4	.;GP114_HUMAN	S	229	ENSP00000342981:F229S;ENSP00000290823:F229S	ENSP00000342981:F229S	F	+	2	0	GPR114	56158151	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.617000	0.74210	1.954000	0.56735	0.397000	0.26171	TTT			0.607	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257336.3		NM_153837		C	57600650	T	C	57600650	3	2	31	1	0	0	0	0	1	0	0	0	6645	1841	64	4	708	4	GPR114	16	57600650	Missense_Mutation	SNP	T	TCGA-2G-AAGJ-01A-11D-A42Y-10	27006511	57600650	32754103	59	2204											
E2F4	1874	hgsc.bcm.edu	37	chr16	67229841	67229841	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcaacagtaAcagcagcagttcgtccggac	13	4	11	13	2	0	0	0	0	0	0	2	1	1	1	1	1	8	8	1	1	2	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr16:67229841A>G	ENST00000379378.3	+	7	1024	c.965A>G	c.(964-966)aAc>aGc	p.N322S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	322	Poly-Ser.				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)		agcaacagtaacagcagcagT	0.622																																					p.N322S													.	.			0			c.A965G												62	65	64					16																	67229841		2198	4300	6498	SO:0001583	missense	1874	exon7			ACAGTAACAGCAG	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	ENST00000379378.3:c.965A>G	16.37:g.67229841A>G	ENSP00000368686:p.Asn322Ser		104	0	0		129	0.05	7	NM_001950	358	0.03	12	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.858792	0.00558	.	.	ENSG00000205250	ENST00000379378	D	0.85339	-1.97	3.78	2.8	0.32819	.	0.815688	0.10990	N	0.611709	T	0.64011	0.2560	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.54105	-0.8343	10	0.02654	T	1	-0.3705	5.2064	0.15293	0.1738:0.0:0.8262:0.0	.	322	Q16254	E2F4_HUMAN	S	322	ENSP00000368686:N322S	ENSP00000368686:N322S	N	+	2	0	E2F4	65787342	1.000000	0.71417	0.859000	0.33776	0.003000	0.03518	2.063000	0.41423	1.093000	0.41377	0.533000	0.62120	AAC			0.622	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421565.1		NM_001950		G	67229841	A	G	67229841	3	3	31	1	0	0	0	0	1	0	0	0	4874	43	2	4	991	4	E2F4	16	67229841	Missense_Mutation	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10	9629191	67229841	23124912	60	2205											
CENPN	56942	mdanderson.org	37	chr16	81053827	81053827	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtactactcccagactccGtacgccttcacgtcctcctc	6	11	6	18	3	1	1	1	0	0	1	6	1	5	1	5	0	3	2	5	0	3	4	rs150065918		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr16:81053827G>A	ENST00000565914.1	-	0	48				CENPN_ENST00000299572.5_Silent_p.P159P|CENPN_ENST00000393335.3_Silent_p.P159P|CENPN_ENST00000439957.3_Silent_p.P139P|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000428963.2_Silent_p.P159P|CENPN_ENST00000305850.5_Silent_p.P159P			Q9NRP2	COXM2_HUMAN	C-x(9)-C motif containing 2							mitochondrion (GO:0005739)											CCCAGACTCCGTACGCCTTCA	0.458																																					p.P159P													CENPN_ENST00000439957,colon,carcinoma,+1,2	CENPN_ENST00000439957	1	2	0			c.G477A							G	,,	0,4404		0,0,2202	132	95	107		477,477,477	-11.8	0	16	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CENPN	NM_001100624.1,NM_001100625.1,NM_018455.4	,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,	159/340,159/354,159/205	81053827	1,13003	2202	4300	6502			55839	exon6			GACTCCGTACGCC	BC032631	CCDS10930.1	16q23.2	2013-10-18	2013-10-18	2012-02-14	ENSG00000103121	ENSG00000103121			24447	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 61", "COX assembly mitochondrial protein 2 homolog (S. cerevisiae)"	C16orf61		20220131	Standard	NM_020188		Approved	DC13, MGC45036	uc002ffu.3	Q9NRP2	OTTHUMG00000137625	ENST00000565914.1:c.-150C>T	16.37:g.81053827G>A			71	0.014084507	1		60	0.07	4	NM_018455	138	0	0	D3DUK6	Silent	SNP	ENST00000565914.1	37	CCDS10930.1																																																																																					0.458	CMC2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000432291.1		NM_020188		A	81053827	G	A	81053827	1	1	31	1	0	1	0	0	0	0	0	0	3240	1132	40	1		1	CENPN	16	81053827	De_novo_Start_OutOfFrame	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	13823986	81053827	9300926	61	2206											
FANCA	2175	mdanderson.org	37	chr16	89851354	89851354	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagccatggtagcctcGtgtgctcccaaaggaggcct	7	8	13	13	1	0	0	0	0	0	0	2	1	1	1	4	3	4	4	4	3	2	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr16:89851354G>A	ENST00000389301.3	-	15	1408	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*	FANCA_ENST00000568369.1_Nonsense_Mutation_p.R460*	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	460					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TGGTAGCCTCGTGTGCTCCCA	0.587			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.R460X			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	.	.			0			c.C1378T												107	97	100					16																	89851354		2198	4300	6498	SO:0001587	stop_gained	2175	exon15	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AGCCTCGTGTGCT	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1378C>T	16.37:g.89851354G>A	ENSP00000373952:p.Arg460*		81	0	0		45	0.07	3	NM_000135	34	0	0	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Nonsense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962077	0.92791	.	.	ENSG00000187741	ENST00000389301	.	.	.	5.68	-0.772	0.10998	.	0.618268	0.14837	N	0.295527	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-4.3725	11.8864	0.52604	0.0:0.0808:0.2697:0.6496	.	.	.	.	X	460	.	ENSP00000373952:R460X	R	-	1	2	FANCA	88378855	0.009000	0.17119	0.000000	0.03702	0.011000	0.07611	0.636000	0.24644	-0.003000	0.14444	0.549000	0.68633	CGA			0.587	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000421927.1				A	89851354	G	A	89851354	4	1	31	1	0	0	0	0	0	1	0	0	5675	1153	40	1	3105	1	FANCA	16	89851354	Nonsense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	8797527	89851354	503399	62	2207											
C17orf56	146705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	79204389	79204389	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgggctgcccatgctgagCtcctgcagccacggccgggt	4	6	14	17	3	0	1	0	1	0	0	1	1	1	1	5	3	5	4	5	3	0	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr17:79204389C>T	ENST00000300714.3	-	11	1041	c.984G>A	c.(982-984)gaG>gaA	p.E328E	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Silent_p.E244E|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	328						cytoplasmic vesicle (GO:0031410)											CCATGCTGAGCTCCTGCAGCC	0.687											OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E328E													.	.			0			c.G984A												26	26	26					17																	79204389		2202	4298	6500	SO:0001819	synonymous_variant	146705	exon11			GCTGAGCTCCTGC	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.984G>A	17.37:g.79204389C>T			60	0	0	1189	65	0.15	10	NM_144679	107	0.23	25	Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	CCDS11779.1																																																																																					0.687	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439315.1		NM_144679		T	79204389	C	T	79204389	2	4	31	1	0	0	0	0	0	0	0	1	1866	796	28	2		2	C17orf56	17	79204389	Silent	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10		79204389	1990821	63	2208											
WDR45L	56270	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	80573887	80573887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaatttgtagtagctgcCgtctgcacaaattgctggga	10	11	12	8	1	1	0	0	0	1	0	1	2	1	2	1	2	4	5	1	2	4	4	rs139641537		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr17:80573887C>T	ENST00000392325.4	-	10	1137	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	WDR45B_ENST00000571835.1_5'Flank	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	315																	TAGTAGCTGCCGTCTGCACAA	0.493																																					p.G315S													.	.			0			c.G943A							C	SER/GLY	0,4406		0,0,2203	118	99	106		943	3.8	1	17	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR45L	NM_019613.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	315/345	80573887	1,13005	2203	4300	6503	SO:0001583	missense	56270	exon10			AGCTGCCGTCTGC	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.943G>A	17.37:g.80573887C>T	ENSP00000376139:p.Gly315Ser		70	0	0		79	0.1	8	NM_019613	251	0.26	65	O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695819	0.68386	0.0	1.16E-4	ENSG00000141580	ENST00000392325;ENST00000539012	D	0.86164	-2.08	4.79	3.83	0.44106	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93478	0.7919	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.94247	0.7490	10	0.66056	D	0.02	-22.8334	14.827	0.70120	0.1454:0.8546:0.0:0.0	.	315	Q5MNZ6	WIPI3_HUMAN	S	315;287	ENSP00000376139:G315S	ENSP00000376139:G315S	G	-	1	0	WDR45L	78167176	1.000000	0.71417	0.982000	0.44146	0.171000	0.22731	7.298000	0.78815	1.152000	0.42452	-0.360000	0.07572	GGC	0		0.493	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316536.1		NM_019613		T	80573887	C	T	80573887	3	4	31	1	0	0	0	0	1	0	0	0	17322	652	23	1	95	1	WDR45L	17	80573887	Missense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	1369498	80573887	621323	64	2209											
ZNF57	126295	broad.mit.edu	37	chr19	2918277	2918277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttctaaaaccagtgagaGcacacactaaagagaaattc	17	9	6	9	0	2	2	0	1	2	2	3	4	2	2	1	0	2	1	1	0	5	4			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr19:2918277G>T	ENST00000306908.5	+	4	1806	c.1658G>T	c.(1657-1659)aGc>aTc	p.S553I	ZNF57_ENST00000523428.1_Missense_Mutation_p.S521I|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	553					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(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGTGAGAGCACACACTAA	0.398																																					p.S553I	NSCLC(150;910 1964 4303 10464 26498)												.	ZNF57	57		0			c.G1658T												70	71	71					19																	2918277		2199	4299	6498	SO:0001583	missense	126295	exon4			GTGAGAGCACACA	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1658G>T	19.37:g.2918277G>T	ENSP00000303696:p.Ser553Ile		46	0	0		57	0.05	3	NM_173480	64	0	0	Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	G	6.585	0.476253	0.12521	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.05925	3.47;3.37	1.83	-3.67	0.04476	.	.	.	.	.	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	P	0.39094	0.659	B	0.32090	0.14	T	0.28427	-1.0044	9	0.66056	D	0.02	.	3.8573	0.08981	0.4516:0.3752:0.1733:0.0	.	553	Q68EA5	ZNF57_HUMAN	I	553;555;521	ENSP00000303696:S553I;ENSP00000430223:S521I	ENSP00000303696:S553I	S	+	2	0	ZNF57	2869277	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.150000	0.03178	-1.417000	0.02017	0.511000	0.50034	AGC			0.398	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378969.1		NM_173480		T	2918277	G	T	2918277	3	4	31	1	0	0	0	0	1	0	0	0	18024	971	34	2	1672	2	ZNF57	19	2918277	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		2918277	56210706	65	2210											
ARHGEF18	23370	mdanderson.org	37	chr19	7505295	7505295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggccctgtccaggaatGtcggtatgacggtctctcag	6	9	13	13	3	2	1	1	1	1	0	5	2	3	2	3	4	0	1	3	4	2	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr19:7505295G>T	ENST00000359920.6	+	1	722	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.M114I|ARHGEF18_ENST00000319670.9_5'UTR	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	157					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)				GTCCAGGAATGTCGGTATGAC	0.662																																					p.V157F													.	.			0			c.G469T												49	46	47					19																	7505295		2203	4300	6503	SO:0001583	missense	23370	exon1			AGGAATGTCGGTA	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.469G>T	19.37:g.7505295G>T	ENSP00000352995:p.Val157Phe		35	0	0		20	0.1	2	NM_001130955	32	0	0	A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925123	0.52759	.	.	ENSG00000104880	ENST00000359920	T	0.34472	1.36	5.43	5.43	0.79202	.	0.335387	0.21164	N	0.079110	T	0.29126	0.0724	L	0.32530	0.975	0.80722	D	1	P	0.43885	0.82	B	0.39379	0.298	T	0.06588	-1.0818	10	0.56958	D	0.05	-24.2317	12.4868	0.55877	0.0:0.1681:0.8319:0.0	.	157	Q6ZSZ5	ARHGI_HUMAN	F	157	ENSP00000352995:V157F	ENSP00000352995:V157F	V	+	1	0	ARHGEF18	7411295	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.239000	0.58694	2.548000	0.85928	0.561000	0.74099	GTC			0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000436340.1		NM_015318		T	7505295	G	T	7505295	3	4	31	1	0	0	0	0	1	0	0	0	901	1377	48	3	471	3	ARHGEF18	19	7505295	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	4587018	7505295	51623688	66	2211											
FBN3	84467	mdanderson.org	37	chr19	8212313	8212313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagggccgaccaggccaGcaggagccgggccagggggc	9	0	18	14	2	0	0	0	0	0	0	0	2	0	1	5	6	3	1	5	6	1	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr19:8212313G>A	ENST00000600128.1	-	2	466	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	FBN3_ENST00000270509.2_Silent_p.L18L|FBN3_ENST00000601739.1_Silent_p.L18L			Q75N90	FBN3_HUMAN	fibrillin 3	18						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						GACCAGGCCAGCAGGAGCCGG	0.692																																					p.L18L													.	.			0			c.C52T												5	7	6					19																	8212313		2142	4171	6313	SO:0001819	synonymous_variant	84467	exon1			AGGCCAGCAGGAG		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.52C>T	19.37:g.8212313G>A			53	0	0		38	0.08	3	NM_032447	4	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																					0.692	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461428.2		NM_032447		A	8212313	G	A	8212313	2	1	31	1	0	0	0	0	0	0	0	1	5717	962	34	2		2	FBN3	19	8212313	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	707018	8212313	50916670	67	2212											
CCDC159	126075	broad.mit.edu	37	chr19	11464523	11464523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcactttgtgctcggggGcctgtcccaaggcctcgagc	4	9	13	15	2	1	0	1	0	0	0	4	1	2	0	4	3	2	1	4	3	1	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr19:11464523G>T	ENST00000588790.1	+	11	1192	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	CCDC159_ENST00000458408.1_Missense_Mutation_p.A249S|DKFZP761J1410_ENST00000591608.1_5'Flank|DKFZP761J1410_ENST00000251473.5_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	364										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GTGCTCGGGGGCCTGTCCCAA	0.587																																					p.A249S													.	CCDC159	35		0			c.G745T												19	21	20					19																	11464523		1911	4137	6048	SO:0001583	missense	126075	exon9			TCGGGGGCCTGTC	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.745G>T	19.37:g.11464523G>T	ENSP00000468232:p.Ala249Ser		89	0.0112359551	1		85	0.05	4	NM_001080503	27	0	0	B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	37	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551134	0.13374	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.44881	0.91	4.03	-1.86	0.07760	.	.	.	.	.	T	0.20618	0.0496	N	0.22421	0.69	0.09310	N	1	B;B	0.19200	0.034;0.003	B;B	0.21151	0.033;0.01	T	0.28933	-1.0028	9	0.10377	T	0.69	.	3.2836	0.06924	0.4716:0.0:0.3389:0.1894	.	364;249	P0C7I6;P0C7I6-2	CC159_HUMAN;.	S	249;364	ENSP00000402239:A249S	ENSP00000390400:A364S	A	+	1	0	CCDC159	11325523	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.226000	0.17776	-0.209000	0.10156	0.313000	0.20887	GCC			0.587	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458761.1		NM_001080503		T	11464523	G	T	11464523	3	4	31	1	0	0	0	0	1	0	0	0	2793	1203	42	2	779	2	CCDC159	19	11464523	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	3252210	11464523	47664460	68	2213											
ZNF681	148213	mdanderson.org	37	chr19	23926883	23926883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtgtagtaaggattgagGactggttaaaagctttgcca	12	13	12	4	0	0	1	0	1	0	0	0	3	0	3	1	3	2	4	1	3	5	6			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr19:23926883G>T	ENST00000402377.3	-	4	1610	c.1469C>A	c.(1468-1470)tCc>tAc	p.S490Y	ZNF681_ENST00000395385.3_Missense_Mutation_p.S421Y	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGATTGAGGACTGGTTAAA	0.363																																					p.S490Y													.	.			0			c.C1469A												54	60	58					19																	23926883		2199	4298	6497	SO:0001583	missense	148213	exon4			ATTGAGGACTGGT	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1469C>A	19.37:g.23926883G>T	ENSP00000384000:p.Ser490Tyr		30	0	0		21	0.14	3	NM_138286	56	0	0	B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	9.575	1.122000	0.20877	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.01209	5.17;5.17	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	L	0.45470	1.425	0.09310	N	1	D	0.63046	0.992	P	0.52627	0.704	T	0.45381	-0.9265	9	0.38643	T	0.18	.	4.0586	0.09827	0.0:0.4672:0.2991:0.2337	.	490	Q96N22	ZN681_HUMAN	Y	490;421	ENSP00000384000:S490Y;ENSP00000378783:S421Y	ENSP00000378783:S421Y	S	-	2	0	ZNF681	23718723	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-3.146000	0.00584	-0.142000	0.11354	0.313000	0.20887	TCC			0.363	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320248.2		NM_138286		T	23926883	G	T	23926883	3	4	31	1	0	0	0	0	1	0	0	0	18111	1174	41	3	472	3	ZNF681	19	23926883	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	12462360	23926883	35202100	69	2214											
IL28A	282616	broad.mit.edu	37	chr19	39760455	39760455	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccggctccaggaggccccAaaaaaggtgagtgacccggg	11	4	14	12	2	0	2	0	2	0	0	1	3	1	3	5	5	1	1	5	5	4	1	rs577518793	byFrequency	TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr19:39760455A>C	ENST00000331982.5	+	5	553	c.498A>C	c.(496-498)ccA>ccC	p.P166P		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	166					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											AGGAGGCCCCAAAAAAGGTGA	0.677													A|||	55	0.0109824	0.003	0.013	5008	,	,		13585	0.0248		0.0139	False		,,,				2504	0.0031				p.P166P													IL28A,NS,carcinoma,+2,1	.		1	0			c.A498C												18	24	22					19																	39760455		2171	4273	6444	SO:0001819	synonymous_variant	282616	exon5			GGCCCCAAAAAAG	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.498A>C	19.37:g.39760455A>C			135	0	0		134	0.04	6	NM_172138	0		0	Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	CCDS42567.1																																																																																					0.677	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463833.1		NM_172138		C	39760455	A	C	39760455	2	2	31	1	0	0	0	0	0	0	0	1	7697	117	5	4		4	IL28A	19	39760455	Silent	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10	15833572	39760455	19368528	70	2215											
IL4I1	259307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50399126	50399126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcccggccacaccagcGccaaccacaatcaccctctg	11	3	6	21	2	2	0	1	0	1	0	2	0	2	0	7	1	3	0	7	1	2	0	rs138779872		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr19:50399126G>A	ENST00000391826.2	-	3	340	c.198C>T	c.(196-198)ggC>ggT	p.G66G	IL4I1_ENST00000595948.1_Silent_p.G88G|IL4I1_ENST00000341114.3_Silent_p.G88G	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	66						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CCACACCAGCGCCAACCACAA	0.612																																					p.G88G													.	.			0			c.C264T							G	,	1,4403	2.1+/-5.4	0,1,2201	108	114	112		198,264	-10.8	0.1	19	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IL4I1	NM_152899.1,NM_172374.1	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	66/568,88/590	50399126	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	259307	exon5			ACCAGCGCCAACC	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.198C>T	19.37:g.50399126G>A			76	0	0		64	0.14	9	NM_172374	116	0	0	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	CCDS12787.1																																																																																			0		0.612	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466413.1				A	50399126	G	A	50399126	2	1	31	1	0	0	0	0	0	0	0	1	7712	1074	38	1		1	IL4I1	19	50399126	Silent	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	10638671	50399126	8729857	71	2216											
CDC25B	994	mdanderson.org	37	chr20	3777215	3777215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggagcccgcgccaggctcgGctctcagtccagcaggcgtg	5	5	15	16	5	1	0	1	0	1	0	4	1	2	1	3	4	2	3	3	4	0	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr20:3777215G>T	ENST00000245960.5	+	1	734	c.37G>T	c.(37-39)Gct>Tct	p.A13S	CDC25B_ENST00000439880.2_Missense_Mutation_p.A13S|CDC25B_ENST00000344256.6_Intron|CDC25B_ENST00000340833.4_Missense_Mutation_p.A13S|CDC25B_ENST00000379598.5_Intron|CDC25B_ENST00000467519.1_Intron	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	13					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GCCAGGCTCGGCTCTCAGTCC	0.766																																					p.A13S													.	.			0			c.G37T												2	3	3					20																	3777215		1534	3271	4805	SO:0001583	missense	994	exon1			GGCTCGGCTCTCA		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.37G>T	20.37:g.3777215G>T	ENSP00000245960:p.Ala13Ser		10	0	0		18	0.17	3	NM_021873	22	0	0	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984980	0.35036	.	.	ENSG00000101224	ENST00000245960;ENST00000439880;ENST00000340833	T;T;T	0.19250	2.34;2.32;2.16	4.27	-1.82	0.07857	.	0.701264	0.14174	N	0.336462	T	0.13670	0.0331	L	0.47716	1.5	0.22330	N	0.999198	P;P;P	0.42692	0.461;0.787;0.682	B;B;B	0.37601	0.13;0.254;0.129	T	0.14980	-1.0453	10	0.33940	T	0.23	0.3591	5.5791	0.17241	0.2504:0.2629:0.4867:0.0	.	13;13;13	P30305-3;P30305-2;P30305	.;.;MPIP2_HUMAN	S	13	ENSP00000245960:A13S;ENSP00000405972:A13S;ENSP00000339170:A13S	ENSP00000245960:A13S	A	+	1	0	CDC25B	3725215	0.004000	0.15560	0.044000	0.18714	0.299000	0.27559	-0.188000	0.09642	-0.379000	0.07906	-1.113000	0.02065	GCT			0.766	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077779.2		NM_021874		T	3777215	G	T	3777215	3	4	31	1	0	0	0	0	1	0	0	0	3065	1203	42	2	39	2	CDC25B	20	3777215	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		3777215	59248305	72	2217											
TMX4	56255	broad.mit.edu	37	chr20	8000252	8000252	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggccgcagcgcccAcccgccatgttgggcgccga	5	4	15	17	6	0	0	0	0	0	0	0	1	0	0	5	2	3	3	5	2	0	1			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr20:8000252A>C	ENST00000246024.2	-	1	224	c.9T>G	c.(7-9)ggT>ggG	p.G3G	RP5-971N18.3_ENST00000457707.1_RNA|RP5-971N18.3_ENST00000607924.1_RNA	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	3					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CGCAGCGCCCACCCGCCATGT	0.761																																					p.G3G													.	TMX4	39		0			c.T9G												1	1	1					20																	8000252		958	2169	3127	SO:0001819	synonymous_variant	56255	exon1			GCGCCCACCCGCC		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.9T>G	20.37:g.8000252A>C			40	0.425	17		41	0.51	21	NM_021156	6	0	0	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	CCDS13101.1																																																																																					0.761	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000077928.2		NM_021156		C	8000252	A	C	8000252	2	2	31	1	0	0	0	0	0	0	0	1	16292	146	6	4		4	TMX4	20	8000252	Silent	SNP	A	TCGA-2G-AAGJ-01A-11D-A42Y-10	4223037	8000252	55025268	73	2218											
OGFR	11054	mdanderson.org	37	chr20	61436316	61436316	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgccggcgcgagggaCgcggacgcaggggacgagga	8	0	22	11	8	0	0	0	0	0	0	0	7	0	4	2	7	0	1	2	7	0	0			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr20:61436316C>T	ENST00000290291.6	+	1	130	c.105C>T	c.(103-105)gaC>gaT	p.D35D	OGFR-AS1_ENST00000431361.1_RNA|OGFR_ENST00000370461.1_5'Flank	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	35					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)					GCGCGAGGGACGCGGACGCAG	0.761																																					p.D35D													.	.			0			c.C105T												16	16	16					20																	61436316		1703	3180	4883	SO:0001819	synonymous_variant	11054	exon1			GAGGGACGCGGAC	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.105C>T	20.37:g.61436316C>T			20	0	0		15	0.13	2	NM_007346	118	0	0	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	CCDS13504.1																																																																																					0.761	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080067.1				T	61436316	C	T	61436316	2	4	31	1	0	0	0	0	0	0	0	1	10860	535	19	1		1	OGFR	20	61436316	Silent	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	53436064	61436316	1589204	74	2219											
HMGN1	3150	broad.mit.edu	37	chr21	40720231	40720231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttaccttcgctgctgccTttttcggcttcgcttccact	2	16	8	15	3	0	0	0	0	0	0	4	0	1	0	3	2	3	5	3	2	1	6			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr21:40720231T>C	ENST00000380749.5	-	4	395	c.113A>G	c.(112-114)aAg>aGg	p.K38R	HMGN1_ENST00000380747.1_Missense_Mutation_p.K54R|HMGN1_ENST00000380748.1_Missense_Mutation_p.K28R|HMGN1_ENST00000361263.4_5'Flank|snoU13_ENST00000459446.1_RNA|HMGN1_ENST00000489072.1_5'UTR	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	38					chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				CGCTGCTGCCTTTTTCGGCTT	0.547																																					p.K38R													.	HMGN1	8		0			c.A113G												90	89	89					21																	40720231		2203	4300	6503	SO:0001583	missense	3150	exon4			GCTGCCTTTTTCG		CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"High-mobility group / Canonical"	4984	protein-coding gene	gene with protein product	"high-mobility group nucleosome binding 1", "nonhistone chromosomal protein HMG-14"	163920	"high-mobility group (nonhistone chromosomal) protein 14", "high-mobility group nucleosome binding domain 1"	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.113A>G	21.37:g.40720231T>C	ENSP00000370125:p.Lys38Arg		136	0	0		204	0.02	5	NM_004965	2084	0	0	Q3KQR8	Missense_Mutation	SNP	ENST00000380749.5	37	CCDS33559.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477052	0.26511	.	.	ENSG00000205581	ENST00000380749;ENST00000380748;ENST00000380747	.	.	.	4.4	3.22	0.36961	.	.	.	.	.	T	0.44265	0.1285	L	0.60455	1.87	0.80722	D	1	P	0.39157	0.662	B	0.38921	0.285	T	0.34750	-0.9816	8	0.33141	T	0.24	.	5.7595	0.18192	0.0:0.0938:0.1661:0.74	.	38	P05114	HMGN1_HUMAN	R	38;28;54	.	ENSP00000288344:K38R	K	-	2	0	HMGN1	39642101	1.000000	0.71417	0.991000	0.47740	0.419000	0.31324	2.573000	0.46007	1.598000	0.50083	0.533000	0.62120	AAG			0.547	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000141645.2		NM_004965		C	40720231	T	C	40720231	3	2	31	1	0	0	0	0	1	0	0	0	7249	1609	56	4	201	4	HMGN1	21	40720231	Missense_Mutation	SNP	T	TCGA-2G-AAGJ-01A-11D-A42Y-10		40720231	7409664	75	2220											
CECR2	27443	broad.mit.edu	37	chr22	17978523	17978523	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggtatttctatggaacaCgaatgtacaaagaggacccg	14	10	10	7	2	1	1	0	0	1	1	1	4	1	3	1	3	2	2	1	3	6	5			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr22:17978523C>T	ENST00000400573.5	+	4	428	c.421C>T	c.(421-423)Cga>Tga	p.R141*	CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Nonsense_Mutation_p.R122*|CECR2_ENST00000342247.5_Nonsense_Mutation_p.R121*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	163					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTATGGAACACGAATGTACAA	0.458																																					.													.	CECR2	233		0			.												77	74	75					22																	17978523		1861	4103	5964	SO:0001587	stop_gained	27443	.			GGAACACGAATGT	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.421C>T	22.37:g.17978523C>T	ENSP00000383417:p.Arg141*		184	0	0		150	0.03	5	.	46	0	0	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	ENST00000400573.5	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.017182	0.93404	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	.	.	.	5.74	5.74	0.90152	.	0.000000	0.31071	U	0.008315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6768	19.9332	0.97128	0.0:1.0:0.0:0.0	.	.	.	.	X	121;141;122	.	ENSP00000262608:R122X	R	+	1	2	CECR2	16358523	0.997000	0.39634	0.988000	0.46212	0.997000	0.91878	3.630000	0.54273	2.702000	0.92279	0.655000	0.94253	CGA			0.458	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000316104.5		NM_031413		T	17978523	C	T	17978523	4	4	31	1	0	0	0	0	0	1	0	0	3208	528	19	1	373	1	CECR2	22	17978523	Nonsense_Mutation	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10		17978523	33326043	76	2221											
MYO18B	84700	broad.mit.edu	37	chr22	26224747	26224747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcttctctccctagatccTtttcctcccaccatctctcc	4	16	1	20	0	3	1	0	0	3	1	11	1	8	1	6	0	0	0	6	0	1	4			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chr22:26224747T>C	ENST00000407587.2	+	15	2960	c.2791T>C	c.(2791-2793)Ttt>Ctt	p.F931L	MYO18B_ENST00000536101.1_Missense_Mutation_p.F931L|MYO18B_ENST00000335473.7_Missense_Mutation_p.F931L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	931	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						CCCTAGATCCTTTTCCTCCCA	0.562																																					p.F931L													.	MYO18B	322		0			c.T2791C												117	118	118					22																	26224747		2010	4186	6196	SO:0001583	missense	84700	exon15			AGATCCTTTTCCT	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.2791T>C	22.37:g.26224747T>C	ENSP00000386096:p.Phe931Leu		68	0.0294117647	2		87	0.05	4	NM_032608	0		0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	T	0.182	-1.061501	0.01950	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.81908	-1.55;-1.55;-1.55	4.69	3.66	0.41972	Myosin head, motor domain (2);	0.376755	0.27896	N	0.017415	T	0.49525	0.1562	N	0.00855	-1.145	0.34164	D	0.668955	B;B;B;B	0.13594	0.003;0.008;0.005;0.006	B;B;B;B	0.14023	0.006;0.01;0.004;0.006	T	0.54207	-0.8328	10	0.02654	T	1	.	6.9148	0.24354	0.0:0.1817:0.0:0.8183	.	444;931;931;931	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	L	931	ENSP00000441229:F931L;ENSP00000334563:F931L;ENSP00000386096:F931L	ENSP00000334563:F931L	F	+	1	0	MYO18B	24554747	0.995000	0.38212	0.999000	0.59377	0.330000	0.28571	2.577000	0.46042	0.832000	0.34804	0.460000	0.39030	TTT			0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000400691.1		NM_032608		C	26224747	T	C	26224747	3	2	31	1	0	0	0	0	1	0	0	0	10082	1609	56	4	2845	4	MYO18B	22	26224747	Missense_Mutation	SNP	T	TCGA-2G-AAGJ-01A-11D-A42Y-10	8246224	26224747	25079819	77	2222											
NDP	4693	broad.mit.edu	37	chrX	43817791	43817791	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcatgcagcgtcgagggtccGagtccattatgaatgagctg	9	10	13	9	3	1	2	1	2	0	0	4	4	3	2	2	1	3	2	2	1	2	1	rs144031424		TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chrX:43817791G>C	ENST00000378062.5	-	2	508	c.101C>G	c.(100-102)tCg>tGg	p.S34W	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	34					canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						TCGAGGGTCCGAGTCCATTAT	0.468																																					p.S34W													.	NDP	12		0			c.C101G												242	170	194					X																	43817791		2203	4300	6503	SO:0001583	missense	4693	exon2			GGGTCCGAGTCCA	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"Endogenous ligands"	7678	protein-coding gene	gene with protein product		300658	"exudative vitreoretinopathy 2 (X-linked)"	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.101C>G	X.37:g.43817791G>C	ENSP00000367301:p.Ser34Trp		113	0	0		107	0.04	4	NM_000266	1	0	0	B2R8K6|Q5JYH5	Missense_Mutation	SNP	ENST00000378062.5	37	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953404	0.34471	.	.	ENSG00000124479	ENST00000378062	D	0.99005	-5.32	5.81	5.81	0.92471	.	0.418341	0.22660	N	0.057206	D	0.97015	0.9025	N	0.19112	0.55	0.46011	D	0.998816	P	0.52463	0.953	P	0.44673	0.457	D	0.97782	1.0233	10	0.87932	D	0	-5.9693	15.3537	0.74412	0.0:0.0:0.8602:0.1398	.	34	Q00604	NDP_HUMAN	W	34	ENSP00000367301:S34W	ENSP00000367301:S34W	S	-	2	0	NDP	43702735	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	3.250000	0.51445	2.428000	0.82296	0.600000	0.82982	TCG			0.468	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056309.1		NM_000266		C	43817791	G	C	43817791	3	2	31	1	0	0	0	0	1	0	0	0	10267	1059	37	5	308	5	NDP	23	43817791	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10		43817791	111452769	78	2223											
EBP	10682	broad.mit.edu	37	chrX	48385673	48385673	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacagcttgtggtctctgtgGgtaaggaaagggcactagag	10	10	15	6	0	1	1	0	0	1	1	2	2	1	2	0	4	2	3	0	4	4	4			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chrX:48385673G>T	ENST00000495186.1	+	4	1292	c.469G>T	c.(469-471)Ggc>Tgc	p.G157C	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	157					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	GGTCTCTGTGGGTAAGGAAAG	0.587																																					p.G157C	Ovarian(41;550 1000 33077 33474 52335)												.	EBP	30		0			c.G469T	GRCh37	CM024393	EBP	M								91	84	87					X																	48385673		2203	4300	6503	SO:0001630	splice_region_variant	10682	exon4			TCTGTGGGTAAGG	Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"3-beta-hydroxysteroid-delta-8,delta-7-isomerase", "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)", "sterol 8-isomerase"	300205	"emopamil-binding protein (sterol isomerase)"	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.469+1G>T	X.37:g.48385673G>T			49	0	0		71	0.04	3	NM_006579	359	0	0	Q6FGL3|Q6IBI9	Splice_Site	SNP	ENST00000495186.1	37	CCDS14300.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070223	0.76301	.	.	ENSG00000147155	ENST00000495186;ENST00000446158	D;D	0.98105	-4.72;-4.72	5.5	5.5	0.81552	.	0.278219	0.40385	N	0.001118	D	0.98317	0.9442	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98111	1.0420	10	0.30854	T	0.27	-8.3689	13.6629	0.62378	0.0:0.0:1.0:0.0	.	157	Q15125	EBP_HUMAN	C	157	ENSP00000417052:G157C;ENSP00000390031:G157C	ENSP00000390031:G157C	G	+	1	0	EBP	48270617	1.000000	0.71417	0.993000	0.49108	0.583000	0.36354	8.330000	0.90019	2.293000	0.77203	0.585000	0.79938	GGC			0.587	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083372.1		NM_006579	Missense_Mutation	T	48385673	G	T	48385673	5	4	31	1	0	0	0	0	0	0	1	0	4891	1246	43	3	479	3	EBP	23	48385673	Splice_Site	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	4567882	48385673	106884887	79	2224											
MAGED1	9500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	51637753	51637753	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtagagcagtctgtcacCccctcccccagcctcctgcc	5	9	7	20	0	2	1	1	0	1	1	4	1	4	1	7	0	3	2	7	0	1	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chrX:51637753C>A	ENST00000375722.1	+	2	297				MAGED1_ENST00000375695.2_Missense_Mutation_p.P26T|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000494718.1_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						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)					AGTCTGTCACCCCCTCCCCCA	0.562										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P26T													.	.			0			c.C76A												37	34	35					X																	51637753		2203	4299	6502	SO:0001627	intron_variant	9500	exon3			TGTCACCCCCTCC	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.45+308C>A	X.37:g.51637753C>A			107	0	0	978	119	0.33	39	NM_001005333	3	1	3	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	7.135	0.580685	0.13686	.	.	ENSG00000179222	ENST00000375695	T	0.03004	4.08	2.79	2.79	0.32731	.	.	.	.	.	T	0.04952	0.0133	.	.	.	0.26655	N	0.972017	B	0.28552	0.215	B	0.36030	0.216	T	0.30179	-0.9987	8	0.87932	D	0	.	8.3191	0.32119	0.0:1.0:0.0:0.0	.	26	Q9Y5V3-2	.	T	26	ENSP00000364847:P26T	ENSP00000364847:P26T	P	+	1	0	MAGED1	51654493	0.672000	0.27530	0.977000	0.42913	0.185000	0.23345	1.988000	0.40697	1.681000	0.50988	0.425000	0.28330	CCC			0.562	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056593.1		NM_001005332		A	51637753	C	A	51637753	1	1	31	0	1	0	0	0	0	0	0	0	9199	623	22	3		3	MAGED1	23	51637753	Intron	SNP	C	TCGA-2G-AAGJ-01A-11D-A42Y-10	3252080	51637753	103632807	80	2225											
KLF8	11279	bcgsc.ca	37	chrX	56295891	56295891	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattgagagtggatcctcaGccttgcagagtctgcaggga	10	9	13	9	0	2	2	1	1	1	2	3	5	3	4	2	2	3	2	2	2	1	2			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chrX:56295891G>C	ENST00000468660.1	+	4	1015	c.727G>C	c.(727-729)Gcc>Ccc	p.A243P	KLF8_ENST00000374928.3_Missense_Mutation_p.A243P	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TGGATCCTCAGCCTTGCAGAG	0.458																																					p.A243P													.	KLF8	38		0			c.G727C												146	114	125					X																	56295891		2203	4300	6503	SO:0001583	missense	11279	exon5			TCCTCAGCCTTGC	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.727G>C	X.37:g.56295891G>C	ENSP00000417303:p.Ala243Pro		59	0	0		76	0.05	4	NM_001159296	48	0	0	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685579	0.47991	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T	0.06933	3.24	4.13	-0.309	0.12769	.	0.664627	0.14027	N	0.346409	T	0.06781	0.0173	L	0.34521	1.04	0.31500	N	0.664928	P;P	0.44195	0.828;0.61	P;B	0.44561	0.453;0.266	T	0.28522	-1.0041	10	0.66056	D	0.02	.	2.6256	0.04928	0.2477:0.0:0.3547:0.3976	.	243;243	E7EQQ8;O95600	.;KLF8_HUMAN	P	243	ENSP00000417303:A243P	ENSP00000364063:A243P	A	+	1	0	KLF8	56312616	0.390000	0.25213	0.609000	0.28983	0.955000	0.61496	0.498000	0.22530	-0.003000	0.14444	0.600000	0.82982	GCC			0.458	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056887.2		NM_007250		C	56295891	G	C	56295891	3	2	31	1	0	0	0	0	1	0	0	0	8367	971	34	5	741	5	KLF8	23	56295891	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	4658138	56295891	98974669	81	2226											
BRWD3	254065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	79959062	79959062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaaaccattcttcattagGctcacctgctatagaaacca	13	10	6	12	0	3	1	2	0	1	1	3	1	3	1	3	2	3	3	3	2	5	5			TCGA-2G-AAGJ-01A-11D-A42Y-10	TCGA-2G-AAGJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33a1d123-4f2c-4210-bc91-4ad16e31105d	aeaad8c4-5cdd-4ffd-bd16-b8d99b390608	g.chrX:79959062G>T	ENST00000373275.4	-	24	2968	c.2752C>A	c.(2752-2754)Cct>Act	p.P918T	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	918					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTCATTAGGCTCACCTGCT	0.378																																					p.P918T													.	.			0			c.C2752A												68	59	62					X																	79959062		2203	4299	6502	SO:0001583	missense	254065	exon24			CATTAGGCTCACC		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2752C>A	X.37:g.79959062G>T	ENSP00000362372:p.Pro918Thr		361	0	0		486	0.28	134	NM_153252	75	0.45	34	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	4.621	0.115422	0.08831	.	.	ENSG00000165288	ENST00000373275	T	0.53206	0.63	5.02	3.25	0.37280	.	0.299004	0.37761	N	0.001949	T	0.32496	0.0831	L	0.31926	0.97	0.37003	D	0.895357	B	0.22414	0.069	B	0.15870	0.014	T	0.17410	-1.0370	9	.	.	.	0.1518	9.5056	0.39044	0.0762:0.0:0.7816:0.1422	.	918	Q6RI45	BRWD3_HUMAN	T	918	ENSP00000362372:P918T	.	P	-	1	0	BRWD3	79845718	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	4.725000	0.61979	0.619000	0.30197	-0.198000	0.12761	CCT			0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057344.1		NM_153252		T	79959062	G	T	79959062	3	4	31	1	0	0	0	0	1	0	0	0	1528	1203	42	2	2728	2	BRWD3	23	79959062	Missense_Mutation	SNP	G	TCGA-2G-AAGJ-01A-11D-A42Y-10	23663171	79959062	75311498	82	2227											
DFFB	1677	mdanderson.org	37	chr1	3775322	3775322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgtgcctgtacgaggatgGcacggagctgacggaagatt	9	8	16	8	3	0	2	0	1	0	1	0	6	0	5	1	4	3	4	1	4	2	2			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr1:3775322G>T	ENST00000378209.3	+	2	478	c.155G>T	c.(154-156)gGc>gTc	p.G52V	DFFB_ENST00000378212.2_Missense_Mutation_p.G52V|DFFB_ENST00000341385.3_Missense_Mutation_p.G52V|CEP104_ENST00000378230.3_5'Flank|DFFB_ENST00000338895.3_Missense_Mutation_p.G52V|CEP104_ENST00000378223.3_5'Flank	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	52	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TACGAGGATGGCACGGAGCTG	0.627																																					p.G52V													.	.			0			c.G155T												70	65	67					1																	3775322		2203	4300	6503	SO:0001583	missense	1677	exon2			AGGATGGCACGGA		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.155G>T	1.37:g.3775322G>T	ENSP00000367454:p.Gly52Val		85	0	0		122	0.04	5	NM_004402	10	0	0	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000378209.3	37	CCDS52.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034648	0.75617	.	.	ENSG00000169598	ENST00000378209;ENST00000338895;ENST00000378212;ENST00000341385;ENST00000448632;ENST00000430539	D;D;D	0.85484	-1.99;-1.99;-1.99	4.65	4.65	0.58169	Caspase-activated nuclease CIDE-N (2);	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	M	0.86268	2.805	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	0.93943	0.7225	10	0.87932	D	0	-38.1911	15.0267	0.71674	0.0:0.0:1.0:0.0	.	52;52;52;52	B4DZS0;O76075-2;O76075;Q96P73	.;.;DFFB_HUMAN;.	V	52	ENSP00000367454:G52V;ENSP00000339524:G52V;ENSP00000367457:G52V	ENSP00000339524:G52V	G	+	2	0	DFFB	3765182	1.000000	0.71417	0.916000	0.36221	0.564000	0.35744	5.928000	0.70088	2.116000	0.64780	0.561000	0.74099	GGC			0.627	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009821.2		NM_001282669		T	3775322	G	T	3775322	3	4	32	1	0	0	0	0	1	0	0	0	4458	1203	42	2	161	2	DFFB	1	3775322	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		3775322	245475299	1	2228											
HORMAD1	84072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150675839	150675839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgctttcagacatatcaaGttcagatgttttattgacta	11	18	6	6	0	3	3	3	1	0	2	3	3	3	3	0	0	1	3	0	0	4	8			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr1:150675839G>A	ENST00000361824.2	-	13	1084	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	RNU6-1042P_ENST00000384204.1_RNA|HORMAD1_ENST00000368993.2_Missense_Mutation_p.L327F|HORMAD1_ENST00000322343.7_Missense_Mutation_p.L320F|HORMAD1_ENST00000368995.4_Missense_Mutation_p.L247F	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	327					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GACATATCAAGTTCAGATGTT	0.269																																					p.L327F													.	.			0			c.C979T												43	40	41					1																	150675839		2194	4286	6480	SO:0001583	missense	84072	exon13			TATCAAGTTCAGA	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.979C>T	1.37:g.150675839G>A	ENSP00000355167:p.Leu327Phe		97	0	0		107	0.27	29	NM_032132	14	0.57	8	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378222	0.42207	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.54071	0.59;1.23;1.18;1.23	4.99	4.08	0.47627	.	0.100586	0.41194	D	0.000924	T	0.42877	0.1222	N	0.17082	0.46	0.42957	D	0.994399	D;D;D	0.76494	0.999;0.996;0.99	D;D;P	0.72075	0.976;0.931;0.845	T	0.50591	-0.8810	10	0.51188	T	0.08	-13.9882	10.8394	0.46706	0.0885:0.0:0.9115:0.0	.	247;320;327	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	F	247;327;256;247;320;327	ENSP00000357991:L247F;ENSP00000357989:L327F;ENSP00000326489:L320F;ENSP00000355167:L327F	ENSP00000326489:L320F	L	-	1	0	HORMAD1	148942463	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	4.669000	0.61575	1.485000	0.48380	-0.261000	0.10672	CTT			0.269	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000084722.1		NM_032132		A	150675839	G	A	150675839	3	1	32	1	0	0	0	0	1	0	0	0	7301	1029	36	3	217	3	HORMAD1	1	150675839	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	146900517	150675839	98574782	2	2229											
KIAA1383	54627	broad.mit.edu	37	chr1	232942071	232942071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggaagtcacagaattGgacatggagaccaatatatt	17	9	10	5	0	1	3	1	1	0	2	1	6	1	5	1	3	0	0	1	3	6	4			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr1:232942071G>T	ENST00000418460.1	+	1	1429	c.1302G>T	c.(1300-1302)ttG>ttT	p.L434F		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	292					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TCACAGAATTGGACATGGAGA	0.448																																					p.L434F													.	.			0			c.G1302T												220	225	224					1																	232942071		1931	4127	6058	SO:0001583	missense	54627	exon1			AGAATTGGACATG	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1302G>T	1.37:g.232942071G>T	ENSP00000403208:p.Leu434Phe		56	0	0		76	0.05	4	NM_019090	7	0	0	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952430	0.34471	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.93	2.64	0.31445	.	1.244450	0.06435	U	0.724840	T	0.58090	0.2098	M	0.64997	1.995	0.27072	N	0.963301	D	0.67145	0.996	D	0.65010	0.931	T	0.36383	-0.9750	9	0.41790	T	0.15	-0.5695	7.8492	0.29444	0.3838:0.0:0.6162:0.0	.	292	Q9P2G4	K1383_HUMAN	F	434	.	ENSP00000403208:L434F	L	+	3	2	KIAA1383	231008694	0.989000	0.36119	0.752000	0.31206	0.018000	0.09664	0.522000	0.22909	0.856000	0.35383	-0.136000	0.14681	TTG			0.448	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092317.3		NM_019090		T	232942071	G	T	232942071	3	4	32	1	0	0	0	0	1	0	0	0	8243	1339	47	3	1304	3	KIAA1383	1	232942071	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	82266232	232942071	16308550	3	2230											
DYSF	8291	broad.mit.edu	37	chr2	71795194	71795194	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgctgaggggaagctGtctgtctttgctgaaaccgt	7	13	13	8	1	2	2	0	2	2	0	2	3	2	3	1	2	4	4	1	2	2	2			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr2:71795194G>T	ENST00000258104.3	+	25	2902	c.2625G>T	c.(2623-2625)ctG>ctT	p.L875L	DYSF_ENST00000429174.2_Silent_p.L875L|DYSF_ENST00000409744.1_Silent_p.L862L|DYSF_ENST00000394120.2_Silent_p.L876L|DYSF_ENST00000409651.1_Silent_p.L907L|DYSF_ENST00000410020.3_Silent_p.L893L|DYSF_ENST00000413539.2_Silent_p.L906L|DYSF_ENST00000409582.3_Silent_p.L892L|DYSF_ENST00000410041.1_Silent_p.L893L|DYSF_ENST00000409762.1_Silent_p.L892L|DYSF_ENST00000409366.1_Silent_p.L876L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	875					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						AGGGGAAGCTGTCTGTCTTTG	0.602																																					p.L907L													.	DYSF	536		0			c.G2721T												166	153	157					2																	71795194		2203	4300	6503	SO:0001819	synonymous_variant	8291	exon26			GAAGCTGTCTGTC	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.2625G>T	2.37:g.71795194G>T			192	0	0		210	0.02	5	NM_001130982	142	0	0	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																					0.602	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000251970.3		NM_003494		T	71795194	G	T	71795194	2	4	32	1	0	0	0	0	0	0	0	1	4864	1364	48	3		3	DYSF	2	71795194	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		71795194	171404179	4	2231											
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	179499171	179499171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcatcaaattgagaatCattaataacaagaatatgtt	18	14	4	5	0	4	2	4	1	0	2	4	3	4	2	0	0	1	1	0	0	7	6			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr2:179499171C>A	ENST00000591111.1	-	180	37638	c.37414G>T	c.(37414-37416)Gat>Tat	p.D12472Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D11545Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D5240Y|TTN_ENST00000359218.5_Missense_Mutation_p.D5173Y|TTN_ENST00000589042.1_Missense_Mutation_p.D14113Y|TTN_ENST00000460472.2_Missense_Mutation_p.D5048Y|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12472					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)			AATTGAGAATCATTAATAACA	0.393																																					p.D14113Y													.	.			0			c.G42337T												74	75	75					2																	179499171		1859	4109	5968	SO:0001583	missense	7273	exon230			GAGAATCATTAAT	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.37414G>T	2.37:g.179499171C>A	ENSP00000465570:p.Asp12472Tyr		78	0	0		109	0.2	22	NM_001267550	0		0	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	11.53	1.667637	0.29604	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	6.17	-3.97	0.04094	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49423	0.1556	M	0.87900	2.915	0.37588	D	0.920061	B;B;B;B	0.27765	0.188;0.093;0.188;0.093	B;B;B;B	0.33799	0.17;0.17;0.17;0.17	T	0.52495	-0.8568	9	0.87932	D	0	.	6.7067	0.23254	0.0:0.394:0.1997:0.4063	.	5048;5173;5240;12472	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	11545;5048;5240;5173;5048	ENSP00000343764:D11545Y;ENSP00000434586:D5048Y;ENSP00000340554:D5240Y;ENSP00000352154:D5173Y	ENSP00000340554:D5240Y	D	-	1	0	TTN	179207416	0.044000	0.20184	0.881000	0.34555	0.975000	0.68041	-0.660000	0.05317	-0.721000	0.04929	-0.136000	0.14681	GAT			0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		A	179499171	C	A	179499171	3	1	32	1	0	0	0	0	1	0	0	0	16759	826	29	3	65888	3	TTN	2	179499171	Missense_Mutation	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10	107703977	179499171	63700202	5	2232											
C2orf67	151050	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	211018586	211018588	+	In_Frame_Del	DEL	TTC	TTC	-																															catctgcaaatgtttctgagTtcttctagcctggctaagta																										TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	TTC	TTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr2:211018586_211018588delTTC	ENST00000281772.9	-	2	982_984	c.719_721delGAA	c.(718-723)agaact>act	p.R240del	KANSL1L_ENST00000457374.1_In_Frame_Del_p.R240del|KANSL1L_ENST00000452086.1_In_Frame_Del_p.R240del|KANSL1L_ENST00000418791.1_In_Frame_Del_p.R240del|KANSL1L_ENST00000429908.2_5'Flank	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	240						histone acetyltransferase complex (GO:0000123)											TGTTTCTGAGTTCTTCTAGCCTG	0.404																																					p.240_241del													.	.			0			c.720_722del																																									SO:0001651	inframe_deletion	151050	exon2			TCTGAGTTCTTCT	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.719_721delGAA	2.37:g.211018589_211018591delTTC	ENSP00000281772:p.Arg240del		109	0	0		106	0.23	24	NM_152519	12	0	0	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	In_Frame_Del	DEL	ENST00000281772.9	37	CCDS33370.1																																																																																					0.404	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336633.3		NM_152519		-	211018588	TTC	-	211018586	7	5	32	1	0	1	0	1	0	0	0	0	2188	1725	60	0	2298	0	C2orf67	2	211018586	In_Frame_Del	DEL	TTC	TCGA-2G-AAGK-01A-11D-A42Y-10	31519415	211018586	32180787	6	2233											
ESPNL	339768	mdanderson.org	37	chr2	239040289	239040289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcagggcagcttcaaCggtgaggacatctgcggcta	9	7	13	12	2	2	1	1	1	1	0	3	2	3	2	1	4	4	4	1	4	2	2	rs182590742		TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr2:239040289C>T	ENST00000343063.3	+	9	3197	c.2934C>T	c.(2932-2934)aaC>aaT	p.N978N	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.N934N|ESPNL_ENST00000409506.1_Silent_p.N610N	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	978										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCAGCTTCAACGGTGAGGACA	0.637													C|||	1	0.000199681	0	0	5008	,	,		17020	0		0.001	False		,,,				2504	0				p.N978N													ESPNL,NS,carcinoma,+2,1	ESPNL	2	1	0			c.C2934T												40	42	41					2																	239040289		2203	4300	6503	SO:0001819	synonymous_variant	339768	exon9			CTTCAACGGTGAG	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2934C>T	2.37:g.239040289C>T			100	0	0		99	0.05	5	NM_194312	0		0	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			0		0.637	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257164.2		NM_194312		T	239040289	C	T	239040289	2	4	32	1	0	0	0	0	0	0	0	1	5262	535	19	1		1	ESPNL	2	239040289	Silent	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10	28021703	239040289	4159084	7	2234											
FANCD2	2177	mdanderson.org	37	chr3	10089633	10089633	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgttcatccattctgtcGctggctcagagtttgcttca	6	16	9	10	1	4	1	3	0	1	1	6	1	5	1	1	1	1	5	1	1	0	4	rs564577177		TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr3:10089633G>T	ENST00000419585.1	+	16	1472	c.1311G>T	c.(1309-1311)tcG>tcT	p.S437S	FANCD2_ENST00000287647.3_Silent_p.S437S|FANCD2_ENST00000383807.1_Silent_p.S437S|FANCD2_ENST00000383806.1_Silent_p.S437S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	437					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)		CCATTCTGTCGCTGGCTCAGA	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				g|||	1	0.000199681	0	0	5008	,	,		19546	0		0	False		,,,				2504	0.001				p.S437S			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	.	.			0			c.G1311T												171	174	173					3																	10089633		2203	4300	6503	SO:0001819	synonymous_variant	2177	exon16	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TCTGTCGCTGGCT	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.1311G>T	3.37:g.10089633G>T			81	0	0		93	0.04	4	NM_001018115	16	0	0	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																					0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339873.1				T	10089633	G	T	10089633	2	4	32	1	0	0	0	0	0	0	0	1	5678	1074	38	1		1	FANCD2	3	10089633	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		10089633	187932797	8	2235											
IQSEC1	9922	mdanderson.org	37	chr3	12950917	12950917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggacagacgaggtgagccGgatgccattggggtagtctg	8	7	19	7	2	1	2	0	1	1	1	1	5	1	4	2	6	2	1	2	6	1	2			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr3:12950917G>A	ENST00000273221.4	-	11	2692	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	826	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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R826W(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGGTGAGCCGGATGCCATTG	0.542																																					p.R826W													IQSEC1,colon,carcinoma,0,1	IQSEC1	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2476T												78	79	79					3																	12950917		2203	4300	6503	SO:0001583	missense	9922	exon11			TGAGCCGGATGCC	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2476C>T	3.37:g.12950917G>A	ENSP00000273221:p.Arg826Trp		60	0	0		74	0.05	4	NM_014869	39	0	0	O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.794463|3.794463	0.70452|0.70452	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.53857	.|0.6;0.6	4.76|4.76	3.86|3.86	0.44501|0.44501	.|Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70885|0.70885	0.3275|0.3275	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.77004	.|0.94;0.989;0.94	T|T	0.74615|0.74615	-0.3606|-0.3606	4|9	.|0.87932	.|D	.|0	.|.	12.2582|12.2582	0.54634|0.54634	0.0:0.0:0.691:0.309|0.0:0.0:0.691:0.309	.|.	.|812;812;826	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	L|W	826|826;812;812	.|ENSP00000273221:R826W;ENSP00000402299:R812W	.|ENSP00000273221:R826W	P|R	-|-	2|1	0|2	IQSEC1|IQSEC1	12925917|12925917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.006000|4.006000	0.57083|0.57083	1.089000|1.089000	0.41292|0.41292	0.655000|0.655000	0.94253|0.94253	CCG|CGG			0.542	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339865.2		NM_014869		A	12950917	G	A	12950917	3	1	32	1	0	0	0	0	1	0	0	0	7832	1115	39	1	976	1	IQSEC1	3	12950917	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	2861284	12950917	185071513	9	2236											
EIF4G1	1981	broad.mit.edu	37	chr3	184040514	184040514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagaagtatgaatataaGtcaggtatgctgaagaaagg	18	8	12	3	0	1	4	1	2	0	2	1	5	1	4	0	2	2	3	0	2	9	4			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr3:184040514G>T	ENST00000346169.2	+	12	2062	c.1791G>T	c.(1789-1791)aaG>aaT	p.K597N	EIF4G1_ENST00000352767.3_Missense_Mutation_p.K604N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K557N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K510N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K604N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K401N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K604N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K597N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K433N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K401N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K557N|SNORD66_ENST00000390856.1_RNA|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000342981.4_Missense_Mutation_p.K597N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K510N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K433N	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	597	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)			ATGAATATAAGTCAGGTATGC	0.458																																					p.K604N													.	EIF4G1	151		0			c.G1812T												64	67	66					3																	184040514		2203	4300	6503	SO:0001583	missense	1981	exon13			ATATAAGTCAGGT	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.1791G>T	3.37:g.184040514G>T	ENSP00000316879:p.Lys597Asn		148	0	0		193	0.02	4	NM_001194946	855	0	0	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651417	0.47362	.	.	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	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.37	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	L	0.41906	1.305	0.50313	D	0.999867	D;D;B;D	0.76494	0.999;0.997;0.402;0.997	D;P;B;D	0.67725	0.953;0.885;0.119;0.922	T	0.59118	-0.7514	10	0.24483	T	0.36	-20.7827	10.8203	0.46601	0.204:0.0:0.796:0.0	.	604;597;597;604	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	N	597;557;510;597;604;604;538;433;604;510;597;597;604;557;433;433;401;401	ENSP00000316879:K597N;ENSP00000391935:K557N;ENSP00000376320:K510N;ENSP00000391412:K597N;ENSP00000413159:K604N;ENSP00000371767:K604N;ENSP00000403269:K538N;ENSP00000317600:K433N;ENSP00000338020:K604N;ENSP00000407682:K510N;ENSP00000343450:K597N;ENSP00000323737:K597N;ENSP00000416255:K604N;ENSP00000395974:K557N;ENSP00000398145:K433N;ENSP00000399858:K433N;ENSP00000411826:K401N;ENSP00000404754:K401N	ENSP00000323737:K597N	K	+	3	2	EIF4G1	185523208	1.000000	0.71417	0.993000	0.49108	0.697000	0.40408	2.761000	0.47589	0.419000	0.25927	-0.463000	0.05309	AAG			0.458	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000345733.1		NM_182917		T	184040514	G	T	184040514	3	4	32	1	0	0	0	0	1	0	0	0	5043	1020	36	3	1829	3	EIF4G1	3	184040514	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	171089597	184040514	13981916	10	2237											
LOX	4015	mdanderson.org	37	chr5	121413599	121413599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcgcgggggctgctgttGgccggcggcgggaggggcgc	1	5	23	12	7	0	0	0	0	0	0	1	1	0	1	1	8	1	3	1	8	0	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr5:121413599G>T	ENST00000231004.4	-	1	381	c.82C>A	c.(82-84)Caa>Aaa	p.Q28K	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	28					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)		GGCTGCTGTTGGCCGGCGGCG	0.697																																					p.Q28K													.	.			0			c.C82A												4	5	5					5																	121413599		1810	3614	5424	SO:0001583	missense	4015	exon1			GCTGTTGGCCGGC		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.82C>A	5.37:g.121413599G>T	ENSP00000231004:p.Gln28Lys		30	0	0		36	0.08	3	NM_002317	3	0	0	B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758733	0.31137	.	.	ENSG00000113083	ENST00000231004;ENST00000543620;ENST00000395480	T	0.23950	1.88	4.34	4.34	0.51931	.	0.263388	0.38217	N	0.001778	T	0.12561	0.0305	N	0.08118	0	0.22947	N	0.998525	B	0.13594	0.008	B	0.14578	0.011	T	0.18871	-1.0323	10	0.11794	T	0.64	.	13.1635	0.59557	0.0:0.1617:0.8383:0.0	.	28	P28300	LYOX_HUMAN	K	28	ENSP00000231004:Q28K	ENSP00000231004:Q28K	Q	-	1	0	LOX	121441498	0.981000	0.34729	0.439000	0.26833	0.625000	0.37756	1.627000	0.37050	1.953000	0.56701	0.313000	0.20887	CAA			0.697	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250887.2				T	121413599	G	T	121413599	3	4	32	1	0	0	0	0	1	0	0	0	8914	1357	47	3	1199	3	LOX	5	121413599	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		121413599	59501661	11	2238											
JAKMIP2	9832	broad.mit.edu	37	chr5	147051343	147051343	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgcctcgggcttctcGcccttatttcgccctttctt	3	16	8	14	3	2	1	0	1	2	0	5	1	2	1	3	1	1	1	3	1	1	5	rs180692323		TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr5:147051343G>T	ENST00000265272.5	-	2	494	c.27C>A	c.(25-27)ggC>ggA	p.G9G	JAKMIP2_ENST00000333010.6_Intron|JAKMIP2_ENST00000507386.1_Silent_p.G9G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	9						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)			CGGGCTTCTCGCCCTTATTTC	0.453																																					p.G9G													.	JAKMIP2	154		0			c.C27A												145	135	139					5																	147051343		2203	4300	6503	SO:0001819	synonymous_variant	9832	exon2			CTTCTCGCCCTTA	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.27C>A	5.37:g.147051343G>T			128	0	0		114	0.04	4	NM_001270941	2	0	0	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	CCDS4285.1																																																																																					0.453	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251941.1		NM_014790		T	147051343	G	T	147051343	2	4	32	1	0	0	0	0	0	0	0	1	7956	1074	38	1		1	JAKMIP2	5	147051343	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	25637744	147051343	33863917	12	2239											
RGS14	10636	broad.mit.edu	37	chr5	176798511	176798511	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaggataaggccacccaTccccctccagcgtcccccag	9	5	7	20	1	1	0	1	0	0	0	4	1	4	1	7	2	1	0	7	2	1	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr5:176798511T>C	ENST00000408923.3	+	14	1607	c.1419T>C	c.(1417-1419)caT>caC	p.H473H	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	473					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCACCCATCCCCCTCCAG	0.597																																					p.H473H	NSCLC(47;353 1896 28036)												RGS14,NS,adenocarcinoma,0,1	RGS14	34	1	0			c.T1419C												122	134	130					5																	176798511		1973	4163	6136	SO:0001819	synonymous_variant	10636	exon14			CACCCATCCCCCT	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1419T>C	5.37:g.176798511T>C			157	0	0		165	0.02	4	NM_006480	97	0.01	1	O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	T	7.070	0.568078	0.13560	.	.	ENSG00000169220	ENST00000511890	.	.	.	4.92	-9.82	0.00484	.	.	.	.	.	T	0.27027	0.0662	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29701	-1.0003	4	.	.	.	-11.1371	10.0903	0.42443	0.0814:0.6515:0.0875:0.1797	.	.	.	.	T	344	.	.	I	+	2	0	RGS14	176731117	0.000000	0.05858	0.000000	0.03702	0.732000	0.41865	-1.476000	0.02333	-1.708000	0.01401	-0.503000	0.04515	ATC			0.597	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372676.1		NM_006480		C	176798511	T	C	176798511	2	2	32	1	0	0	0	0	0	0	0	1	13320	1432	50	4		4	RGS14	5	176798511	Silent	SNP	T	TCGA-2G-AAGK-01A-11D-A42Y-10	29747168	176798511	4116749	13	2240											
GMPR	2766	mdanderson.org	37	chr6	16290845	16290845	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgcaggaggagttgctGagtacaggtgaggaggtgac	11	6	18	6	1	0	3	0	3	0	0	0	6	0	6	0	5	3	5	0	5	1	2			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr6:16290845G>T	ENST00000259727.4	+	8	964	c.850G>T	c.(850-852)Gag>Tag	p.E284*	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	284					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGGAGTTGCTGAGTACAGGTG	0.572																																					p.E284X													.	.			0			c.G850T												110	101	104					6																	16290845		2203	4300	6503	SO:0001587	stop_gained	2766	exon8			GTTGCTGAGTACA		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.850G>T	6.37:g.16290845G>T	ENSP00000259727:p.Glu284*		64	0	0		43	0.07	3	NM_006877	132	0	0	Q96HQ6	Nonsense_Mutation	SNP	ENST00000259727.4	37	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	39	7.647499	0.98409	.	.	ENSG00000137198	ENST00000259727	.	.	.	5.55	5.55	0.83447	.	0.100264	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.6346	19.4992	0.95086	0.0:0.0:1.0:0.0	.	.	.	.	X	284	.	ENSP00000259727:E284X	E	+	1	0	GMPR	16398824	1.000000	0.71417	0.956000	0.39512	0.908000	0.53690	9.869000	0.99810	2.598000	0.87819	0.655000	0.94253	GAG			0.572	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039942.2				T	16290845	G	T	16290845	4	4	32	1	0	0	0	0	0	1	0	0	6510	1291	45	3	880	3	GMPR	6	16290845	Nonsense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		16290845	154824222	14	2241											
ZNF391	346157	mdanderson.org	37	chr6	27369205	27369205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaactctgatcagacatcaGcaccttcatactaaagagta	15	10	5	11	0	5	3	4	1	1	2	5	3	5	3	1	0	3	2	1	0	5	4			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr6:27369205G>C	ENST00000244576.4	+	3	1601	c.1056G>C	c.(1054-1056)caG>caC	p.Q352H	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCAGACATCAGCACCTTCATA	0.368																																					p.Q352H													.	.			0			c.G1056C												51	51	51					6																	27369205		1962	4164	6126	SO:0001583	missense	346157	exon3			ACATCAGCACCTT	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"Zinc fingers, C2H2-type"	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.1056G>C	6.37:g.27369205G>C	ENSP00000244576:p.Gln352His		33	0	0		22	0.09	2	NM_001076781	9	0	0	B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	9.199	1.027892	0.19512	.	.	ENSG00000124613	ENST00000244576	T	0.36520	1.25	3.61	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13157	0.0319	L	0.53617	1.68	0.25327	N	0.989062	B	0.30870	0.298	B	0.23018	0.043	T	0.17806	-1.0357	9	0.66056	D	0.02	.	5.7544	0.18164	0.2561:0.0:0.7439:0.0	.	352	Q9UJN7	ZN391_HUMAN	H	352	ENSP00000244576:Q352H	ENSP00000244576:Q352H	Q	+	3	2	ZNF391	27477184	0.495000	0.26051	0.644000	0.29465	0.049000	0.14656	2.192000	0.42649	0.610000	0.30035	0.557000	0.71058	CAG			0.368	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040145.2		NM_001076781		C	27369205	G	C	27369205	3	2	32	1	0	0	0	0	1	0	0	0	17902	962	34	5	1058	5	ZNF391	6	27369205	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	11078360	27369205	143745862	15	2242											
DDR1	780	mdanderson.org	37	chr6	30865223	30865223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaacatcattcggctgctgGgcgtgtgtgtgcaggacgac	8	9	14	10	3	1	0	1	0	0	0	2	2	1	1	0	3	3	3	0	3	1	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr6:30865223G>T	ENST00000324771.8	+	17	2613	c.2065G>T	c.(2065-2067)Ggc>Tgc	p.G689C	DDR1_ENST00000513240.1_Missense_Mutation_p.G695C|DDR1_ENST00000452441.1_Missense_Mutation_p.G689C|DDR1_ENST00000376569.3_Missense_Mutation_p.G652C|DDR1_ENST00000454612.2_Missense_Mutation_p.G652C|DDR1_ENST00000508312.1_Missense_Mutation_p.G670C|DDR1_ENST00000376575.3_Missense_Mutation_p.G695C|DDR1_ENST00000418800.2_Missense_Mutation_p.G652C|DDR1_ENST00000376568.3_Missense_Mutation_p.G689C|DDR1_ENST00000376567.2_Missense_Mutation_p.G652C|DDR1_ENST00000376570.4_Missense_Mutation_p.G652C|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Missense_Mutation_p.G356C			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	689	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCGGCTGCTGGGCGTGTGTGT	0.542																																					p.G695C													DDR1_ENST00000376575,NS,adenocarcinoma,-2,3	DDR1_ENST00000376575	-2	3	0			c.G2083T												106	96	99					6																	30865223		2203	4300	6503	SO:0001583	missense	780	exon14			CTGCTGGGCGTGT	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2065G>T	6.37:g.30865223G>T	ENSP00000318217:p.Gly689Cys		65	0	0		57	0.05	3	NM_013994	129	0	0	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.832003|4.832003	0.91036|0.91036	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741|ENST00000484556	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89343|.	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82949|0.82949	0.5148|0.5148	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|1	D;P;D;P;D|.	0.89917|.	1.0;0.886;1.0;0.653;1.0|.	D;P;D;P;D|.	0.97110|.	1.0;0.648;0.995;0.482;1.0|.	D|D	0.86583|0.86583	0.1855|0.1855	10|5	0.59425|.	D|.	0.04|.	.|.	16.6419|16.6419	0.85128|0.85128	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	670;153;421;695;689|.	B7Z2K0;A2ABL4;A2ABM8;Q08345-5;Q08345|.	.;.;.;.;DDR1_HUMAN|.	C|C	689;652;652;652;695;652;689;689;670;652;695;421;356|45	ENSP00000318217:G689C;ENSP00000407699:G652C;ENSP00000406091:G652C;ENSP00000365753:G652C;ENSP00000365759:G695C;ENSP00000365754:G652C;ENSP00000365752:G689C;ENSP00000405039:G689C;ENSP00000422442:G670C;ENSP00000365751:G652C;ENSP00000427552:G695C;ENSP00000398682:G421C;ENSP00000354844:G356C|.	ENSP00000318217:G689C|.	G|W	+|+	1|3	0|0	DDR1|DDR1	30973202|30973202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.697000|9.697000	0.98697|0.98697	2.525000|2.525000	0.85131|0.85131	0.462000|0.462000	0.41574|0.41574	GGC|TGG			0.542	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000076494.3		NM_013994		T	30865223	G	T	30865223	3	4	32	1	0	0	0	0	1	0	0	0	4338	1232	43	3	2137	3	DDR1	6	30865223	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	3496018	30865223	140249844	16	2243											
C6orf108	23113	mdanderson.org	37	chr6	43193827	43193827	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgttaaaggccacggccCggcccagctcatagcctaca	9	7	10	15	2	1	0	1	0	0	0	1	0	1	0	4	3	3	3	4	3	4	4			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr6:43193827C>T	ENST00000252050.4	+	0	7780				DNPH1_ENST00000393987.2_Missense_Mutation_p.R107Q|RP3-330M21.5_ENST00000500590.1_RNA|DNPH1_ENST00000230431.6_Missense_Mutation_p.R107Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						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						GGCCACGGCCCGGCCCAGCTC	0.622																																					p.R107Q													.	.			0			c.G320A												37	30	33					6																	43193827		2202	4296	6498	SO:0001628	intergenic_variant	10591	exon3			ACGGCCCGGCCCA	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		6.37:g.43193827C>T			41	0	0		37	0.08	3	NM_006443	227	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127974	0.77549	.	.	ENSG00000112667	ENST00000230431;ENST00000509253;ENST00000393987	.	.	.	4.73	0.882	0.19172	.	0.085063	0.47852	N	0.000208	T	0.29749	0.0743	M	0.82323	2.585	0.44359	D	0.997258	P;P	0.49358	0.923;0.758	B;B	0.39068	0.283;0.289	T	0.09618	-1.0666	9	0.30854	T	0.27	-1.2515	4.241	0.10648	0.0:0.5459:0.1685:0.2856	.	107;107	O43598-2;O43598	.;RCL_HUMAN	Q	107;176;107	.	ENSP00000230431:R107Q	R	-	2	0	C6orf108	43301805	1.000000	0.71417	0.983000	0.44433	0.795000	0.44927	3.528000	0.53524	-0.022000	0.13986	0.462000	0.41574	CGG			0.622	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040582.2		NM_015089		T	43193827	C	T	43193827	1	4	32	0	1	0	0	0	0	0	0	0	2322	652	23	1		1	C6orf108	6	43193827	IGR	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10	12328604	43193827	127921240	17	2244											
FOXD4	2298	mdanderson.org	37	chr9	117487	117487	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagggaaggggtggggCaggtgggctcccggggtcgg	5	5	25	6	2	0	1	0	0	0	1	2	2	1	2	1	11	0	3	1	11	2	1	rs201596201	byFrequency	TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr9:117487C>T	ENST00000382500.2	-	1	930	c.633G>A	c.(631-633)ctG>ctA	p.L211L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	211	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGGGGTGGGGCAGGTGGGCTC	0.716																																					p.L211L													.	.			0			c.G633A																																									SO:0001819	synonymous_variant	2298	exon1			GTGGGGCAGGTGG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.633G>A	9.37:g.117487C>T			30	0.0333333333	1		28	0.25	7	NM_207305	1	1	1	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	CCDS34975.1																																																																																			0.004		0.716	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055433.1		NM_207305		T	117487	C	T	117487	2	4	32	1	0	0	0	0	0	0	0	1	6012	697	25	2		2	FOXD4	9	117487	Silent	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10		117487	141095944	18	2245											
COL15A1	1306	broad.mit.edu	37	chr9	101797339	101797339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctggacccccggggaaaaAgggacaagctggccctcctg	10	4	13	14	1	0	0	0	0	0	0	1	3	1	3	5	5	1	1	5	5	3	0			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr9:101797339A>G	ENST00000375001.3	+	18	2546	c.2123A>G	c.(2122-2124)aAg>aGg	p.K708R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	708	Collagen-like 2.|Triple-helical region 2 (COL2).				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)				CCGGGGAAAAAGGGACAAGCT	0.617																																					p.K708R													.	COL15A1	211		0			c.A2123G												48	48	48					9																	101797339		2202	4299	6501	SO:0001583	missense	1306	exon18			GGAAAAAGGGACA	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.2123A>G	9.37:g.101797339A>G	ENSP00000364140:p.Lys708Arg		114	0	0		124	0.03	4	NM_001855	43	0	0	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763906	0.15914	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.93547	-3.24	5.69	4.53	0.55603	.	0.498001	0.19952	N	0.102410	T	0.80654	0.4664	N	0.01482	-0.84	0.19300	N	0.999977	B	0.14438	0.01	B	0.16722	0.016	T	0.68969	-0.5269	10	0.26408	T	0.33	-4.0721	9.8533	0.41070	0.8277:0.1723:0.0:0.0	.	708	P39059	COFA1_HUMAN	R	708;678	ENSP00000364140:K708R	ENSP00000364140:K708R	K	+	2	0	COL15A1	100837160	0.371000	0.25056	0.707000	0.30419	0.304000	0.27724	1.029000	0.30140	0.961000	0.38030	0.533000	0.62120	AAG			0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053386.3		NM_001855		G	101797339	A	G	101797339	3	3	32	1	0	0	0	0	1	0	0	0	3674	72	3	4	2193	4	COL15A1	9	101797339	Missense_Mutation	SNP	A	TCGA-2G-AAGK-01A-11D-A42Y-10	101679852	101797339	39416092	19	2246											
CRB2	286204	mdanderson.org	37	chr9	126129887	126129887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtggacgagtgtgccTcacggccatgcctcaacgga	8	7	15	11	3	2	0	2	0	0	0	2	4	2	3	3	5	3	0	3	5	1	0			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr9:126129887T>C	ENST00000373631.3	+	6	977	c.976T>C	c.(976-978)Tca>Cca	p.S326P	CRB2_ENST00000373629.2_5'Flank|CRB2_ENST00000359999.3_Missense_Mutation_p.S326P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	326	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGAGTGTGCCTCACGGCCATG	0.672																																					p.S326P													.	.			0			c.T976C												44	36	39					9																	126129887		2185	4279	6464	SO:0001583	missense	286204	exon6			TGTGCCTCACGGC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.976T>C	9.37:g.126129887T>C	ENSP00000362734:p.Ser326Pro		44	0	0		38	0.08	3	NM_173689	3	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605714	0.87157	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.91843	-2.92;-2.92	5.09	5.09	0.68999	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38436	N	0.001693	D	0.95153	0.8429	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95523	0.8596	10	0.72032	D	0.01	.	13.9725	0.64250	0.0:0.0:0.0:1.0	.	326;326	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	P	326	ENSP00000353092:S326P;ENSP00000362734:S326P	ENSP00000353092:S326P	S	+	1	0	CRB2	125169708	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	3.142000	0.50601	2.046000	0.60703	0.448000	0.29417	TCA			0.672	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053990.3		NM_173689		C	126129887	T	C	126129887	3	2	32	1	0	0	0	0	1	0	0	0	3851	1551	54	4	998	4	CRB2	9	126129887	Missense_Mutation	SNP	T	TCGA-2G-AAGK-01A-11D-A42Y-10	24332548	126129887	15083544	20	2247											
ENG	2022	mdanderson.org	37	chr9	130587145	130587145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaaggatgccacaatgcTggcattgagcatccgggcct	10	7	12	12	2	0	1	0	1	0	0	1	3	1	2	3	3	3	3	3	3	2	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr9:130587145T>C	ENST00000373203.4	-	7	1325	c.925A>G	c.(925-927)Agc>Ggc	p.S309G	ENG_ENST00000344849.3_Missense_Mutation_p.S309G|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'UTR	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	309	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCCACAATGCTGGCATTGAGC	0.572									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																												p.S309G													.	.			0			c.A925G												67	67	67					9																	130587145		2203	4300	6503	SO:0001583	missense	2022	exon7	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	CAATGCTGGCATT	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.925A>G	9.37:g.130587145T>C	ENSP00000362299:p.Ser309Gly		61	0	0		56	0.05	3	NM_000118	96	0.01	1	Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	t	14.46	2.541964	0.45280	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.59083	0.29;0.83	4.36	4.36	0.52297	.	0.086147	0.50627	D	0.000115	T	0.71762	0.3378	M	0.72118	2.19	0.33446	D	0.583008	D;D	0.69078	0.997;0.997	D;D	0.70716	0.97;0.97	T	0.80865	-0.1191	10	0.72032	D	0.01	-8.1646	11.0482	0.47872	0.0:0.0:0.0:1.0	.	309;309	Q5T9B9;P17813	.;EGLN_HUMAN	G	309;309;309;127	ENSP00000362299:S309G;ENSP00000341917:S309G	ENSP00000341917:S309G	S	-	1	0	ENG	129626966	1.000000	0.71417	0.995000	0.50966	0.048000	0.14542	3.834000	0.55798	1.837000	0.53436	0.370000	0.22315	AGC			0.572	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054313.1				C	130587145	T	C	130587145	3	2	32	1	0	0	0	0	1	0	0	0	5124	1580	55	4	1113	4	ENG	9	130587145	Missense_Mutation	SNP	T	TCGA-2G-AAGK-01A-11D-A42Y-10	4457258	130587145	10626286	21	2248											
COL5A1	1289	mdanderson.org	37	chr9	137620596	137620596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagacctagggaaggaGcccacccccagcaagaagcc	13	1	11	16	1	0	2	0	0	0	2	0	5	0	4	6	2	3	1	6	2	5	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr9:137620596G>T	ENST00000371817.3	+	6	1281	c.867G>T	c.(865-867)gaG>gaT	p.E289D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	289	Nonhelical 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)		TAGGGAAGGAGCCCACCCCCA	0.617																																					p.E289D													.	.			0			c.G867T												108	119	115					9																	137620596		2203	4300	6503	SO:0001583	missense	1289	exon6			GAAGGAGCCCACC	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.867G>T	9.37:g.137620596G>T	ENSP00000360882:p.Glu289Asp		52	0	0		41	0.07	3	NM_000093	40	0	0	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094992	0.20471	.	.	ENSG00000130635	ENST00000371817	D	0.89939	-2.59	4.24	-1.93	0.07594	.	1.427170	0.04730	U	0.420900	T	0.81312	0.4796	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61574	-0.7035	10	0.18276	T	0.48	.	4.8861	0.13704	0.1968:0.5603:0.1333:0.1095	.	289	P20908	CO5A1_HUMAN	D	289	ENSP00000360882:E289D	ENSP00000360882:E289D	E	+	3	2	COL5A1	136760417	0.361000	0.24972	0.101000	0.21167	0.912000	0.54170	0.083000	0.14871	-0.121000	0.11787	0.462000	0.41574	GAG			0.617	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054954.2		NM_000093		T	137620596	G	T	137620596	3	4	32	1	0	0	0	0	1	0	0	0	3698	962	34	2	889	2	COL5A1	9	137620596	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	7033451	137620596	3592835	22	2249											
RET	5979	mdanderson.org	37	chr10	43604576	43604576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggcccaggagcgggCgtcctcttgctccacttcaa	6	9	11	15	2	2	0	1	0	1	0	5	1	5	1	4	3	2	1	4	3	1	3			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr10:43604576C>T	ENST00000355710.3	+	6	1393	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	RET_ENST00000340058.5_Silent_p.G387G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	387					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)	CAGGAGCGGGCGTCCTCTTGC	0.637		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																												p.G387G	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	RET_ENST00000340058,NS,carcinoma,0,2	RET_ENST00000340058	0	2	0			c.C1161T												75	71	72					10																	43604576		2203	4300	6503	SO:0001819	synonymous_variant	5979	exon6	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	AGCGGGCGTCCTC	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.1161C>T	10.37:g.43604576C>T			61	0	0		45	0.07	3	NM_020630	2	0	0	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																					0.637	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047694.2		NM_020975		T	43604576	C	T	43604576	2	4	32	1	0	0	0	0	0	0	0	1	13258	755	27	1		1	RET	10	43604576	Silent	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10		43604576	91930171	23	2250											
COL17A1	1308	broad.mit.edu	37	chr10	105821178	105821178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccggcggaggtggaaaCgccagtgttcacagccgcag	9	5	14	13	4	2	0	2	0	0	0	2	2	2	2	3	4	2	2	3	4	1	1	rs200123495		TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr10:105821178C>T	ENST00000353479.5	-	13	1254	c.964G>A	c.(964-966)Gtt>Att	p.V322I	COL17A1_ENST00000393211.3_Missense_Mutation_p.V322I|COL17A1_ENST00000369733.3_Missense_Mutation_p.V322I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	322	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGGTGGAAACGCCAGTGTTC	0.572																																					p.V322I													.	COL17A1	149		0			c.G964A												60	48	52					10																	105821178		2203	4300	6503	SO:0001583	missense	1308	exon13			TGGAAACGCCAGT	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.964G>A	10.37:g.105821178C>T	ENSP00000340937:p.Val322Ile		33	0	0		50	0.06	3	NM_000494	28	0	0	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163200	0.21538	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.58797	0.31;0.31;0.31	5.93	-0.16	0.13375	.	0.163773	0.28268	N	0.015969	T	0.42944	0.1225	L	0.55103	1.725	0.22620	N	0.998926	P;P	0.47034	0.889;0.685	B;B	0.33960	0.173;0.119	T	0.41270	-0.9518	10	0.72032	D	0.01	-1.2129	9.3101	0.37898	0.0:0.5743:0.0:0.4257	.	322;322	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	I	322;322;306;322	ENSP00000340937:V322I;ENSP00000358748:V322I;ENSP00000376905:V322I	ENSP00000340937:V322I	V	-	1	0	COL17A1	105811168	0.014000	0.17966	0.023000	0.16930	0.033000	0.12548	0.033000	0.13754	-0.284000	0.09102	-0.258000	0.10820	GTT			0.572	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050181.1		NM_130778, NM_000494		T	105821178	C	T	105821178	3	4	32	1	0	0	0	0	1	0	0	0	3676	536	19	1	3705	1	COL17A1	10	105821178	Missense_Mutation	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10	62216602	105821178	29713569	24	2251											
OR51B2	79345	mdanderson.org	37	chr11	5345000	5345000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatttcttggtggaggcaGaaagcacgtgtgataacatg	12	11	13	5	1	1	3	0	2	1	1	1	4	1	4	0	3	2	2	0	3	2	3			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr11:5345000G>T	ENST00000328813.2	-	1	582	c.528C>A	c.(526-528)ttC>ttA	p.F176L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGAGGCAGAAAGCACGTG	0.388																																					p.F176L													.	.			0			c.C528A												93	92	92					11																	5345000		2201	4297	6498	SO:0001583	missense	79345	exon1			GAGGCAGAAAGCA	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.528C>A	11.37:g.5345000G>T	ENSP00000327540:p.Phe176Leu		61	0	0		47	0.06	3	NM_033180	1	0	0	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658533	0.67586	.	.	ENSG00000184881	ENST00000328813	T	0.00346	8.01	4.28	-2.18	0.07037	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	U	0.001125	T	0.00666	0.0022	M	0.84219	2.685	0.25222	N	0.989898	D	0.89917	1.0	D	0.91635	0.999	T	0.20107	-1.0285	10	0.72032	D	0.01	.	10.5657	0.45171	0.5722:0.0:0.4278:0.0	.	176	Q9Y5P1	O51B2_HUMAN	L	176	ENSP00000327540:F176L	ENSP00000327540:F176L	F	-	3	2	OR51B2	5301576	0.019000	0.18553	0.989000	0.46669	0.876000	0.50452	0.072000	0.14617	-0.348000	0.08286	0.644000	0.83932	TTC			0.388	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142983.1		NM_033180		T	5345000	G	T	5345000	3	4	32	1	0	0	0	0	1	0	0	0	11106	933	33	3	414	3	OR51B2	11	5345000	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		5345000	129661516	25	2252											
OR51B5	282763	mdanderson.org	37	chr11	5364396	5364396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgcagatggcaataaaaCggtcataggccatggcaagc	13	7	13	8	1	1	1	1	0	0	1	1	1	1	1	1	5	3	4	1	5	5	3	rs369290068	byFrequency	TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr11:5364396C>T	ENST00000300773.2	-	1	413	c.359G>A	c.(358-360)cGt>cAt	p.R120H	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	120					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAATAAAACGGTCATAGGC	0.473													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		20852	0		0	False		,,,				2504	0				p.R120H													.	.			0			c.G359A							C	HIS/ARG	5,4397	9.9+/-24.2	0,5,2196	51	52	51		359	3.9	0.2	11		51	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR51B5	NM_001005567.2	29	0,6,6492	TT,TC,CC		0.0116,0.1136,0.0462	probably-damaging	120/313	5364396	6,12990	2201	4297	6498	SO:0001583	missense	282763	exon5			ATAAAACGGTCAT	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"GPCR / Class A : Olfactory receptors"	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.359G>A	11.37:g.5364396C>T	ENSP00000300773:p.Arg120His		38	0	0		29	0.1	3	NM_001005567	4	0	0	B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211671	0.58452	0.001136	1.16E-4	ENSG00000242180	ENST00000300773	T	0.77489	-1.1	4.76	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000875	T	0.81014	0.4735	M	0.93808	3.46	0.36033	D	0.83952	P	0.35684	0.515	B	0.30572	0.117	D	0.86525	0.1818	10	0.72032	D	0.01	.	11.866	0.52493	0.0:0.9145:0.0:0.0855	.	120	Q9H339	O51B5_HUMAN	H	120	ENSP00000300773:R120H	ENSP00000300773:R120H	R	-	2	0	OR51B5	5320972	0.003000	0.15002	0.229000	0.23960	0.961000	0.63080	1.870000	0.39529	1.255000	0.44051	0.650000	0.86243	CGT			0.473	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142975.1		NM_001005567		T	5364396	C	T	5364396	3	4	32	1	0	0	0	0	1	0	0	0	11108	536	19	1	583	1	OR51B5	11	5364396	Missense_Mutation	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10	19396	5364396	129642120	26	2253											
UBQLN3	50613	mdanderson.org	37	chr11	5529308	5529308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcctgtaactgtggaGctggattcatgccatctggc	7	13	10	11	0	3	0	2	0	2	0	5	2	4	2	2	3	3	2	2	3	1	2			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr11:5529308G>T	ENST00000311659.4	-	2	1628	c.1481C>A	c.(1480-1482)gCt>gAt	p.A494D	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	494										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)		TAACTGTGGAGCTGGATTCAT	0.582																																					p.A494D	Ovarian(72;684 1260 12332 41642 52180)												.	.			0			c.C1481A												59	63	61					11																	5529308		2201	4297	6498	SO:0001583	missense	50613	exon2			TGTGGAGCTGGAT	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.1481C>A	11.37:g.5529308G>T	ENSP00000347997:p.Ala494Asp		70	0	0		54	0.06	3	NM_017481	0		0	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.367071	0.01225	.	.	ENSG00000175520	ENST00000311659	T	0.36520	1.25	4.83	-8.05	0.01106	.	1.511260	0.04430	N	0.369124	T	0.26231	0.0640	L	0.47716	1.5	0.09310	N	1	B	0.26400	0.148	B	0.19946	0.027	T	0.29458	-1.0011	10	0.45353	T	0.12	2.6614	7.402	0.26969	0.2511:0.3693:0.3796:0.0	.	494	Q9H347	UBQL3_HUMAN	D	494	ENSP00000347997:A494D	ENSP00000347997:A494D	A	-	2	0	UBQLN3	5485884	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.064000	0.03461	-1.172000	0.02762	-0.302000	0.09304	GCT			0.582	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143348.1		NM_017481		T	5529308	G	T	5529308	3	4	32	1	0	0	0	0	1	0	0	0	16922	971	34	2	490	2	UBQLN3	11	5529308	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	164912	5529308	129477208	27	2254											
TRIM6	117854	mdanderson.org	37	chr11	5631468	5631468	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaggatgctgcgagtGtgtagaggtaaggagattca	13	9	15	4	1	1	3	1	1	0	2	1	6	1	4	0	3	2	3	0	3	4	3			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr11:5631468G>T	ENST00000278302.5	+	6	1007	c.867G>T	c.(865-867)gtG>gtT	p.V289V	TRIM6-TRIM34_ENST00000354852.5_Silent_p.V317V|TRIM6_ENST00000445329.1_Silent_p.V114V|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000507320.1_Silent_p.V114V|TRIM6_ENST00000515022.1_Silent_p.V114V|TRIM6_ENST00000506134.1_Silent_p.V114V|TRIM6_ENST00000380097.3_Silent_p.V317V|TRIM6_ENST00000380107.1_Silent_p.V263V|TRIM6_ENST00000481603.1_3'UTR	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	289	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		TGCTGCGAGTGTGTAGAGGTA	0.468																																					p.V317V													.	.			0			c.G951T												85	88	87					11																	5631468		2201	4297	6498	SO:0001819	synonymous_variant	445372	exon6			GCGAGTGTGTAGA	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.867G>T	11.37:g.5631468G>T			57	0	0		45	0.07	3	NM_001003819	8	0	0	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	CCDS31390.1																																																																																					0.468	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143376.2		NM_001003818		T	5631468	G	T	5631468	2	4	32	1	0	0	0	0	0	0	0	1	16557	1364	48	3		3	TRIM6	11	5631468	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	102160	5631468	129375048	28	2255											
RRAS2	22800	mdanderson.org	37	chr11	14380339	14380339	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggtgagcgccgacttGcccacgccgcccccgccgac	5	5	13	18	6	0	1	0	1	0	0	0	4	0	2	6	2	2	0	6	2	0	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr11:14380339G>T	ENST00000256196.4	-	1	391	c.78C>A	c.(76-78)ggC>ggA	p.G26G	RRAS2_ENST00000529237.1_Intron|RRAS2_ENST00000545643.1_Silent_p.G26G|RRAS2_ENST00000537760.1_Intron|RRAS2_ENST00000532814.1_5'Flank|RRAS2_ENST00000526063.1_5'Flank			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	26					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GCGCCGACTTGCCCACGCCGC	0.766																																					p.G26G													.	.			0			c.C78A												7	9	9					11																	14380339		1886	3839	5725	SO:0001819	synonymous_variant	22800	exon1			CGACTTGCCCACG	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.78C>A	11.37:g.14380339G>T			12	0	0		18	0.17	3	NM_012250	170	0.01	1	B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Silent	SNP	ENST00000256196.4	37	CCDS7814.1																																																																																					0.766	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386035.1		NM_012250		T	14380339	G	T	14380339	2	4	32	1	0	0	0	0	0	0	0	1	13700	1306	46	2		2	RRAS2	11	14380339	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	8748871	14380339	120626177	29	2256											
SPTBN2	6712	mdanderson.org	37	chr11	66468012	66468012	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctggctgctgagcacGccctcagcctgacgagcatc	7	8	10	16	2	2	2	2	2	0	0	3	3	2	2	3	1	4	4	3	1	0	1	rs374033075		TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr11:66468012G>A	ENST00000533211.1	-	17	3889	c.3558C>T	c.(3556-3558)ggC>ggT	p.G1186G	SPTBN2_ENST00000309996.2_Silent_p.G1186G|SPTBN2_ENST00000529997.1_Silent_p.G1186G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1186					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						TGCTGAGCACGCCCTCAGCCT	0.642													G|||	1	0.000199681	0	0	5008	,	,		15064	0		0	False		,,,				2504	0.001				p.G1186G													.	.			0			c.C3558T							G		0,4400		0,0,2200	30	35	33		3558	-6.7	0.1	11		33	1,8587		0,1,4293	no	coding-synonymous	SPTBN2	NM_006946.2		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		1186/2391	66468012	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	6712	exon16			GAGCACGCCCTCA	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.3558C>T	11.37:g.66468012G>A			22	0	0		22	0.09	2	NM_006946	15	0	0	O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																					0.642	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393892.2		NM_006946		A	66468012	G	A	66468012	2	1	32	1	0	0	0	0	0	0	0	1	15143	1074	38	1		1	SPTBN2	11	66468012	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	52087673	66468012	68538504	30	2257											
GAL	51083	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	68455486	68455486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatctgcaaacagatgcCgttggcaaccacaggtcatt	11	10	9	11	1	3	2	1	1	2	1	3	2	3	2	2	2	4	3	2	2	2	2	rs367644530		TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr11:68455486C>T	ENST00000265643.3	+	4	399	c.141C>T	c.(139-141)gcC>gcT	p.A47A		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	47					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		AAACAGATGCCGTTGGCAACC	0.572																																					p.A47A													.	.			0			c.C141T							C		0,4400		0,0,2200	83	68	73		141	-3.5	0	11		73	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	GAL	NM_015973.3		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		47/124	68455486	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	51083	exon4			AGATGCCGTTGGC	L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"Endogenous ligands"	4114	protein-coding gene	gene with protein product	"galanin-message-associated peptide", "galanin/GMAP prepropeptide"	137035	"galanin", "galanin prepropeptide"	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.141C>T	11.37:g.68455486C>T			220	0	0		173	0.06	10	NM_015973	316	0.15	47	Q14413	Silent	SNP	ENST00000265643.3	37	CCDS8183.1																																																																																					0.572	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396843.2		NM_001479		T	68455486	C	T	68455486	2	4	32	1	0	0	0	0	0	0	0	1	6210	639	23	1		1	GAL	11	68455486	Silent	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10	1987474	68455486	66551030	31	2258											
MARCH9	92979	broad.mit.edu	37	chr12	58152467	58152467	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggaggagatgcagggggAgggacggcagggaagtcagg	12	3	22	4	1	1	1	1	0	0	1	1	6	1	5	0	8	1	2	0	8	2	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr12:58152467A>G	ENST00000266643.5	+	4	1259	c.828A>G	c.(826-828)ggA>ggG	p.G276G	MARCH9_ENST00000548358.1_Silent_p.G163G	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	276					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATGCAGGGGGAGGGACGGCAG	0.637																																					p.G276G													.	MARCH9	28		0			c.A828G												52	49	50					12																	58152467		2203	4300	6503	SO:0001819	synonymous_variant	92979	exon4			AGGGGGAGGGACG	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.828A>G	12.37:g.58152467A>G			105	0.0095238095	1		128	0.04	5	NM_138396	61	0	0	B2R9U9|Q86VN5|Q96GG2	Silent	SNP	ENST00000266643.5	37	CCDS31847.1																																																																																					0.637	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000409244.1		NM_138396		G	58152467	A	G	58152467	2	3	32	1	0	0	0	0	0	0	0	1	9324	291	11	4		4	MARCH9	12	58152467	Silent	SNP	A	TCGA-2G-AAGK-01A-11D-A42Y-10		58152467	75699428	32	2259											
ASCL4	121549	mdanderson.org	37	chr12	108169178	108169178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggggatggcagtacttGcccgtgccgctggacagcgc	6	6	16	13	4	0	0	0	0	0	0	0	2	0	2	2	4	4	4	2	4	1	2			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr12:108169178G>T	ENST00000342331.4	+	1	1017	c.186G>T	c.(184-186)ttG>ttT	p.L62F		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	61					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GGCAGTACTTGCCCGTGCCGC	0.746																																					p.L62F	GBM(170;776 3695 11650)												.	.			0			c.G186T												5	7	6					12																	108169178		2079	4050	6129	SO:0001583	missense	121549	exon1			GTACTTGCCCGTG	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"Basic helix-loop-helix proteins"	24311	protein-coding gene	gene with protein product		609155	"achaete-scute complex-like 4 (Drosophila)", "achaete-scute complex homolog 4 (Drosophila)"				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.186G>T	12.37:g.108169178G>T	ENSP00000345420:p.Leu62Phe		23	0	0		23	0.09	2	NM_203436	1	0	0	Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	37	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057595	0.19907	.	.	ENSG00000187855	ENST00000342331	D	0.96716	-4.1	4.32	1.24	0.21308	.	1.351640	0.05104	N	0.487761	D	0.89174	0.6640	N	0.17082	0.46	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.80665	-0.1281	10	0.09590	T	0.72	-21.3786	1.6428	0.02756	0.2672:0.156:0.4366:0.1402	.	61	Q6XD76	ASCL4_HUMAN	F	62	ENSP00000345420:L62F	ENSP00000345420:L62F	L	+	3	2	ASCL4	106693308	0.000000	0.05858	0.331000	0.25455	0.061000	0.15899	0.109000	0.15417	0.929000	0.37192	0.305000	0.20034	TTG			0.746	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346845.1		NM_203436		T	108169178	G	T	108169178	3	4	32	1	0	0	0	0	1	0	0	0	1036	1310	46	2	188	2	ASCL4	12	108169178	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	50016711	108169178	25682717	33	2260											
SBNO1	55206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	123830101	123830101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattcagcacaaatgttgtaGtagatggaggctgctgctag	11	11	13	6	0	1	1	1	0	0	1	1	3	1	2	0	2	3	7	0	2	4	5			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr12:123830101G>C	ENST00000602398.1	-	4	381	c.254C>G	c.(253-255)aCt>aGt	p.T85S	SBNO1_ENST00000267176.4_Missense_Mutation_p.T84S|SBNO1_ENST00000420886.2_Missense_Mutation_p.T85S|SBNO1_ENST00000602750.1_Missense_Mutation_p.T84S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	85					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)		AAATGTTGTAGTAGATGGAGG	0.383																																					p.T85S													.	.			0			c.C254G												115	104	108					12																	123830101		2203	4300	6503	SO:0001583	missense	55206	exon3			GTTGTAGTAGATG	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.254C>G	12.37:g.123830101G>C	ENSP00000473665:p.Thr85Ser		92	0	0		81	0.26	21	NM_001167856	10	0.3	3	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229547	0.58777	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.32988	1.43;1.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.29908	0.895	0.49798	D	0.999829	P;D;D	0.56035	0.956;0.974;0.974	P;D;D	0.70487	0.899;0.953;0.969	T	0.06643	-1.0815	10	0.18710	T	0.47	-24.6935	18.1163	0.89556	0.0:0.0:1.0:0.0	.	85;84;83	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	S	85;84;84	ENSP00000387361:T85S;ENSP00000267176:T84S	ENSP00000267176:T84S	T	-	2	0	SBNO1	122396054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.035000	0.93752	2.715000	0.92844	0.655000	0.94253	ACT			0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000467684.1		NM_018183		C	123830101	G	C	123830101	3	2	32	1	0	0	0	0	1	0	0	0	13885	1029	36	5	4043	5	SBNO1	12	123830101	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	15660923	123830101	10021794	34	2261											
SACS	26278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	23906199	23906199	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcaactaacatttgcacaCcaatattcccctggattcta	13	12	4	12	0	2	0	1	0	1	0	3	2	3	1	3	1	3	1	3	1	5	6			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr13:23906199C>G	ENST00000382292.3	-	9	12089	c.11816G>C	c.(11815-11817)gGt>gCt	p.G3939A	SACS_ENST00000382298.3_Missense_Mutation_p.G3939A|SACS_ENST00000402364.1_Missense_Mutation_p.G3189A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3939					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)		CATTTGCACACCAATATTCCC	0.423																																					p.G3939A													.	.			0			c.G11816C												125	116	119					13																	23906199		2203	4300	6503	SO:0001583	missense	26278	exon10			TGCACACCAATAT	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.11816G>C	13.37:g.23906199C>G	ENSP00000371729:p.Gly3939Ala		123	0	0		108	0.46	50	NM_014363	16	0.31	5	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265826	0.80358	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87334	-2.09;-2.24;-2.09	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89577	0.6755	N	0.19112	0.55	0.58432	D	0.999997	D	0.76494	0.999	D	0.85130	0.997	D	0.90467	0.4450	10	0.59425	D	0.04	.	20.1013	0.97878	0.0:1.0:0.0:0.0	.	3939	Q9NZJ4	SACS_HUMAN	A	3939;3189;3939	ENSP00000371729:G3939A;ENSP00000385844:G3189A;ENSP00000371735:G3939A	ENSP00000371729:G3939A	G	-	2	0	SACS	22804199	1.000000	0.71417	0.959000	0.39883	0.922000	0.55478	7.818000	0.86416	2.748000	0.94277	0.655000	0.94253	GGT			0.423	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044148.3		NM_014363		G	23906199	C	G	23906199	3	3	32	1	0	0	0	0	1	0	0	0	13827	507	18	5	1927	5	SACS	13	23906199	Missense_Mutation	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10		23906199	91263679	35	2262											
FREM2	341640	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr13	39264104	39264104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactcaggcacccaaacatGgccacatgagagtgtctgga	12	7	10	12	0	3	1	2	1	1	1	3	3	3	2	2	3	1	1	2	3	1	0			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr13:39264104G>T	ENST00000280481.7	+	1	2839	c.2623G>T	c.(2623-2625)Ggc>Tgc	p.G875C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	875					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCCAAACATGGCCACATGAG	0.502																																					p.G875C													.	FREM2	385		0			c.G2623T												94	79	84					13																	39264104		2203	4300	6503	SO:0001583	missense	341640	exon1			AAACATGGCCACA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2623G>T	13.37:g.39264104G>T	ENSP00000280481:p.Gly875Cys		78	0	0		86	0.06	5	NM_207361	1	0	0	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121806	0.56613	.	.	ENSG00000150893	ENST00000280481	T	0.73152	-0.72	5.8	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.88213	0.6376	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91466	0.5193	10	0.87932	D	0	.	14.8491	0.70284	0.0688:0.0:0.9312:0.0	.	875	Q5SZK8	FREM2_HUMAN	C	875	ENSP00000280481:G875C	ENSP00000280481:G875C	G	+	1	0	FREM2	38162104	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	9.844000	0.99494	1.476000	0.48215	-0.136000	0.14681	GGC			0.502	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044599.2		NM_207361		T	39264104	G	T	39264104	3	4	32	1	0	0	0	0	1	0	0	0	6058	1348	47	3	2625	3	FREM2	13	39264104	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	15357905	39264104	75905774	36	2263											
MBNL2	10150	mdanderson.org	37	chr13	97995343	97995343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccttacctagcacctgtaaCccctggagttgggttggtcc	6	12	10	13	0	0	0	0	0	0	0	2	1	2	1	6	3	3	4	6	3	3	5			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr13:97995343C>T	ENST00000376673.3	+	4	1194	c.413C>T	c.(412-414)aCc>aTc	p.T138I	MBNL2_ENST00000343600.4_Missense_Mutation_p.T138I|MBNL2_ENST00000397601.1_Missense_Mutation_p.T138I|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000345429.6_Missense_Mutation_p.T138I			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	138					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			GCACCTGTAACCCCTGGAGTT	0.537																																					p.T138I													.	.			0			c.C413T												91	85	87					13																	97995343		2203	4300	6503	SO:0001583	missense	10150	exon4			CTGTAACCCCTGG	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"Zinc fingers, CCCH-type domain containing"	16746	protein-coding gene	gene with protein product		607327	"muscleblind-like 2 (Drosophila)"			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.413C>T	13.37:g.97995343C>T	ENSP00000365861:p.Thr138Ile		115	0	0		105	0.05	5	NM_207304	3	0	0	Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37		.	.	.	.	.	.	.	.	.	.	C	16.94	3.262002	0.59431	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673	T;T;T;T	0.47528	0.84;0.84;0.86;0.9	5.56	5.56	0.83823	.	0.334930	0.34291	N	0.004094	T	0.47154	0.1430	N	0.22421	0.69	0.80722	D	1	B;P;P	0.52170	0.271;0.536;0.951	B;B;P	0.51385	0.096;0.074;0.668	T	0.21724	-1.0237	10	0.23891	T	0.37	.	19.8898	0.96926	0.0:1.0:0.0:0.0	.	138;138;138	Q5VZF2;A2A3S3;Q5VZF2-2	MBNL2_HUMAN;.;.	I	138	ENSP00000380726:T138I;ENSP00000344214:T138I;ENSP00000267287:T138I;ENSP00000365861:T138I	ENSP00000344214:T138I	T	+	2	0	MBNL2	96793344	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.655000	0.54460	2.781000	0.95711	0.650000	0.86243	ACC			0.537	MBNL2-202	KNOWN	basic	protein_coding	protein_coding				NM_144778		T	97995343	C	T	97995343	3	4	32	1	0	0	0	0	1	0	0	0	9370	507	18	3	423	3	MBNL2	13	97995343	Missense_Mutation	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10	58731239	97995343	17174535	37	2264											
LIPC	3990	mdanderson.org	37	chr15	58855705	58855705	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttctttgtgtattcaaggGgcaaaggaattgctagtaat	11	16	10	4	0	2	0	1	0	1	0	2	1	2	1	0	3	1	4	0	3	6	8			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr15:58855705G>T	ENST00000356113.6	+	10	1786	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C	LIPC_ENST00000414170.3_Splice_Site_p.G391C|LIPC_ENST00000433326.2_Splice_Site_p.G330C|LIPC_ENST00000299022.5_Splice_Site_p.G391C			P11150	LIPC_HUMAN	lipase, hepatic	391	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GTATTCAAGGGGCAAAGGAAT	0.413																																					p.G391C													.	.			0			c.G1171T												85	72	76					15																	58855705		2192	4292	6484	SO:0001630	splice_region_variant	3990	exon8			TCAAGGGGCAAAG		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1170-1G>T	15.37:g.58855705G>T			47	0	0		33	0.09	3	NM_000236	18	0	0	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443847	0.25987	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	T;T;T;T	0.74315	0.66;-0.83;0.66;0.66	5.9	2.98	0.34508	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.488693	0.23587	N	0.046597	T	0.77003	0.4067	L	0.50333	1.59	0.25147	N	0.990456	B;D	0.67145	0.107;0.996	B;P	0.59948	0.1;0.866	T	0.66578	-0.5888	10	0.49607	T	0.09	.	7.952	0.30021	0.1962:0.1153:0.6885:0.0	.	330;391	E7EUK6;P11150	.;LIPC_HUMAN	C	391;391;391;330	ENSP00000348425:G391C;ENSP00000395569:G391C;ENSP00000299022:G391C;ENSP00000395002:G330C	ENSP00000299022:G391C	G	+	1	0	LIPC	56642997	0.997000	0.39634	0.258000	0.24420	0.079000	0.17450	1.928000	0.40104	0.375000	0.24679	0.563000	0.77884	GGC			0.413	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416209.1			Missense_Mutation	T	58855705	G	T	58855705	5	4	32	1	0	0	0	0	0	0	1	0	8835	1246	43	3	1201	3	LIPC	15	58855705	Splice_Site	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		58855705	43675687	38	2265											
LACTB	114294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	63414877	63414877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtggttggagtttctgtaGatggaaaagaagtctggtca	11	13	14	3	0	3	2	1	0	2	2	3	4	3	4	0	4	0	3	0	4	5	4			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr15:63414877G>A	ENST00000261893.4	+	2	472	c.400G>A	c.(400-402)Gat>Aat	p.D134N	LACTB_ENST00000413507.2_Missense_Mutation_p.D134N	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	134						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						AGTTTCTGTAGATGGAAAAGA	0.473																																					p.D134N	Melanoma(85;443 1381 6215 27308 35583)												.	.			0			c.G400A												184	159	167					15																	63414877		2203	4300	6503	SO:0001583	missense	114294	exon2			TCTGTAGATGGAA	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.400G>A	15.37:g.63414877G>A	ENSP00000261893:p.Asp134Asn		165	0	0		135	0.22	30	NM_171846	32	0.41	13	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719221	0.68844	.	.	ENSG00000103642	ENST00000261893;ENST00000413507	T;T	0.51071	0.72;0.72	5.86	5.86	0.93980	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.044521	0.85682	D	0.000000	T	0.35219	0.0924	N	0.12663	0.25	0.53005	D	0.999967	B	0.27264	0.173	B	0.32533	0.147	T	0.13656	-1.0501	10	0.17832	T	0.49	-31.1158	19.1765	0.93604	0.0:0.0:1.0:0.0	.	134	P83111	LACTB_HUMAN	N	134	ENSP00000261893:D134N;ENSP00000392956:D134N	ENSP00000261893:D134N	D	+	1	0	LACTB	61201930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.385000	0.73182	2.776000	0.95493	0.650000	0.86243	GAT			0.473	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256224.1		NM_032857		A	63414877	G	A	63414877	3	1	32	1	0	0	0	0	1	0	0	0	8612	942	33	3	406	3	LACTB	15	63414877	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	4559172	63414877	39116515	39	2266											
WDR90	197335	broad.mit.edu	37	chr16	705131	705131	+	Frame_Shift_Del	DEL	T	T	-																															tccaggccttccgggtcaccTtttttgatgaaaccaggtga																										TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr16:705131delT	ENST00000293879.4	+	14	1540	c.1540delT	c.(1540-1542)tttfs	p.F515fs	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Frame_Shift_Del_p.F515fs			Q96KV7	WDR90_HUMAN	WD repeat domain 90	515										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGGGTCACCTTTTTTGATGA	0.667																																					p.F514fs													.	WDR90	107		0			c.1540delT												51	58	56					16																	705131		2053	4174	6227	SO:0001589	frameshift_variant	197335	exon14			GTCACCTTTTTTG	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1540delT	16.37:g.705131delT	ENSP00000293879:p.Phe515fs		168	0	0		173	0.05	8	NM_145294	6	0	0	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Frame_Shift_Del	DEL	ENST00000293879.4	37	CCDS42092.1																																																																																					0.667	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000404335.1		NM_145294		-	705131	T	-	705131	7	5	32	1	0	1	0	1	0	0	0	0	17361	1609	56	0	1594	0	WDR90	16	705131	Frame_Shift_Del	DEL	T	TCGA-2G-AAGK-01A-11D-A42Y-10		705131	89649622	40	2267											
PAQR4	124222	mdanderson.org	37	chr16	3021699	3021699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctactggtatttggggcccGgggagtgggtctgggttcag	4	11	18	8	1	2	0	1	0	1	0	2	1	2	1	2	7	1	2	2	7	2	4			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr16:3021699G>A	ENST00000318782.8	+	3	1002	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Missense_Mutation_p.R152Q|PAQR4_ENST00000572687.1_Missense_Mutation_p.R117Q|PAQR4_ENST00000576565.1_Missense_Mutation_p.R124Q|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Missense_Mutation_p.R124Q	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	191						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R191L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TTTGGGGCCCGGGGAGTGGGT	0.682																																					p.R191Q													PAQR4,NS,carcinoma,0,1	PAQR4	0	1	1	Substitution - Missense(1)	kidney(1)	c.G572A												31	37	35					16																	3021699		2198	4297	6495	SO:0001583	missense	124222	exon3			GGGCCCGGGGAGT		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.572G>A	16.37:g.3021699G>A	ENSP00000321804:p.Arg191Gln		37	0	0		46	0.07	3	NM_152341	38	0	0	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	17.53	3.411911	0.62511	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.32023	1.47	5.09	3.1	0.35709	.	0.129612	0.52532	D	0.000070	T	0.49012	0.1532	M	0.79123	2.44	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.984;0.995	D;P;D	0.67382	0.951;0.602;0.928	T	0.40440	-0.9563	10	0.28530	T	0.3	-21.6174	8.6467	0.34009	0.0856:0.1533:0.7611:0.0	.	116;152;191	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	Q	191;117	ENSP00000321804:R191Q	ENSP00000293978:R117Q	R	+	2	0	PAQR4	2961700	1.000000	0.71417	0.989000	0.46669	0.792000	0.44763	5.974000	0.70465	0.528000	0.28580	0.457000	0.33378	CGG			0.682	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250966.1		NM_152341		A	3021699	G	A	3021699	3	1	32	1	0	0	0	0	1	0	0	0	11454	1116	39	1	582	1	PAQR4	16	3021699	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	2316568	3021699	87333054	41	2268											
DDX19B	11269	mdanderson.org	37	chr16	70333207	70333207	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctgggaccatggccActgactcatgggccctggcg	5	6	14	16	3	1	1	1	1	0	0	1	2	1	2	5	4	0	0	5	4	0	0			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr16:70333207A>T	ENST00000288071.6	+	1	252	c.7A>T	c.(7-9)Act>Tct	p.T3S	RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.T3S|DDX19B_ENST00000568625.1_Intron|DDX19B_ENST00000563392.1_Intron|DDX19B_ENST00000563206.1_Intron|DDX19B_ENST00000570055.1_Intron|DDX19B_ENST00000393657.2_5'UTR|DDX19B_ENST00000355992.3_Missense_Mutation_p.T3S|DDX19B_ENST00000451014.3_Intron	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	3	N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GACCATGGCCACTGACTCATG	0.662																																					p.T3S	Esophageal Squamous(26;382 757 1343 9728 15939)												.	.			0			c.A7T												24	20	22					16																	70333207		2194	4291	6485	SO:0001583	missense	11269	exon1			ATGGCCACTGACT	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.7A>T	16.37:g.70333207A>T	ENSP00000288071:p.Thr3Ser		49	0	0		34	0.09	3	NM_001014451	33	0	0	B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959472	0.53400	.	.	ENSG00000157349	ENST00000355992;ENST00000288071	T;T	0.52295	0.67;0.67	5.04	5.04	0.67666	.	0.265917	0.38492	N	0.001673	T	0.34716	0.0907	L	0.37630	1.12	0.39051	D	0.96033	B;B;B	0.17268	0.013;0.005;0.021	B;B;B	0.12156	0.003;0.005;0.007	T	0.19128	-1.0315	10	0.13108	T	0.6	.	11.3632	0.49655	1.0:0.0:0.0:0.0	.	3;3;3	Q7Z4W5;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	S	3	ENSP00000348271:T3S;ENSP00000288071:T3S	ENSP00000288071:T3S	T	+	1	0	DDX19B	68890708	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.788000	0.47806	2.254000	0.74563	0.528000	0.53228	ACT			0.662	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268965.3		NM_007242		T	70333207	A	T	70333207	3	4	32	1	0	0	0	0	1	0	0	0	4349	159	6	5	9	5	DDX19B	16	70333207	Missense_Mutation	SNP	A	TCGA-2G-AAGK-01A-11D-A42Y-10	67311508	70333207	20021546	42	2269											
CDH15	1013	broad.mit.edu;mdanderson.org	37	chr16	89254650	89254650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatgggcagttcaccatccGcacggaccccaagaccaacg	11	4	10	16	4	1	1	1	0	0	1	2	3	2	2	5	2	1	3	5	2	2	1	rs374936482		TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr16:89254650G>A	ENST00000289746.2	+	7	1000	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	312	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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TTCACCATCCGCACGGACCCC	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		14428	0		0	False		,,,				2504	0				p.R312H													CDH15,NS,carcinoma,0,1	CDH15	54	1	0			c.G935A							G	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	63	52	56		935	3.5	0.1	16		56	0,8600		0,0,4300	no	missense	CDH15	NM_004933.2	29	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	312/815	89254650	1,12993	2197	4300	6497	SO:0001583	missense	1013	exon7			CCATCCGCACGGA	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.935G>A	16.37:g.89254650G>A	ENSP00000289746:p.Arg312His		92	0	0		90	0.06	5	NM_004933	0		0		Missense_Mutation	SNP	ENST00000289746.2	37	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780458	0.31502	2.28E-4	0.0	ENSG00000129910	ENST00000289746	T	0.51071	0.72	4.45	3.48	0.39840	Cadherin (4);Cadherin-like (1);	0.249276	0.25777	N	0.028367	T	0.37839	0.1018	L	0.46157	1.445	0.09310	N	1	B	0.20164	0.042	B	0.20384	0.029	T	0.24835	-1.0149	10	0.36615	T	0.2	.	8.0104	0.30351	0.2067:0.0:0.7933:0.0	.	312	P55291	CAD15_HUMAN	H	312	ENSP00000289746:R312H	ENSP00000289746:R312H	R	+	2	0	CDH15	87782151	0.000000	0.05858	0.102000	0.21198	0.788000	0.44548	0.127000	0.15790	0.856000	0.35383	0.449000	0.29647	CGC			0.642	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269920.1		NM_004933		A	89254650	G	A	89254650	3	1	32	1	0	0	0	0	1	0	0	0	3102	1087	38	1	961	1	CDH15	16	89254650	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	18921443	89254650	1100103	43	2270											
CDH15	1013	mdanderson.org	37	chr16	89260268	89260268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggccgcctgcacccccagCcaccccgagtgctgcccacc	6	3	10	22	2	0	0	0	0	0	0	0	1	0	0	9	1	4	2	9	1	0	0			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr16:89260268C>T	ENST00000289746.2	+	13	2163	c.2098C>T	c.(2098-2100)Cca>Tca	p.P700S		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	700					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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCACCCCCAGCCACCCCGAGT	0.672																																					p.P700S													.	.			0			c.C2098T												14	19	17					16																	89260268		2160	4258	6418	SO:0001583	missense	1013	exon13			CCCCAGCCACCCC	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2098C>T	16.37:g.89260268C>T	ENSP00000289746:p.Pro700Ser		55	0	0		57	0.05	3	NM_004933	2	0	0		Missense_Mutation	SNP	ENST00000289746.2	37	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043229	0.36085	.	.	ENSG00000129910	ENST00000289746	T	0.75938	-0.98	4.52	-3.88	0.04205	Cadherin, cytoplasmic domain (1);	0.657623	0.13360	N	0.393697	T	0.65790	0.2725	L	0.41079	1.255	0.09310	N	1	B	0.19935	0.04	B	0.33121	0.158	T	0.55224	-0.8174	10	0.36615	T	0.2	.	12.9468	0.58376	0.0:0.1793:0.6931:0.1276	.	700	P55291	CAD15_HUMAN	S	700	ENSP00000289746:P700S	ENSP00000289746:P700S	P	+	1	0	CDH15	87787769	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.294000	0.19047	-1.190000	0.02698	-0.357000	0.07601	CCA			0.672	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269920.1		NM_004933		T	89260268	C	T	89260268	3	4	32	1	0	0	0	0	1	0	0	0	3102	739	26	2	2148	2	CDH15	16	89260268	Missense_Mutation	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10	5618	89260268	1094485	44	2271											
NKIRAS2	28511	mdanderson.org	37	chr17	40175799	40175799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcagtggcggaccggcGctccctcctggagccctttg	3	9	15	14	3	1	0	1	0	0	0	3	2	3	2	4	5	1	1	4	5	0	1	rs375322757		TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr17:40175799G>A	ENST00000307641.5	+	4	1085	c.464G>A	c.(463-465)cGc>cAc	p.R155H	NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.R153H|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.R155H|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.R155H|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.R99H|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.R193H|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.R155H|ZNF385C_ENST00000461831.1_5'Flank	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	155	Small GTPase-like.				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)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCGGACCGGCGCTCCCTCCTG	0.617																																					p.R155H													.	.			0			c.G464A							G	HIS/ARG,HIS/ARG,HIS/ARG,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99	94	95		464,464,296,,464	5.7	1	17		95	0,8600		0,0,4300	no	missense,missense,missense,utr-3,missense	NKIRAS2	NM_001001349.2,NM_001144927.1,NM_001144928.1,NM_001144929.1,NM_017595.5	29,29,29,,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,,probably-damaging	155/192,155/192,99/136,,155/192	40175799	1,13005	2203	4300	6503	SO:0001583	missense	28511	exon4			ACCGGCGCTCCCT	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"NFKB inhibitor interacting Ras-like protein 2"			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.464G>A	17.37:g.40175799G>A	ENSP00000303580:p.Arg155His		45	0	0		70	0.06	4	NM_017595	126	0	0	A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889086	0.72524	2.27E-4	0.0	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.65	5.65	0.86999	Small GTP-binding protein domain (1);	0.048786	0.85682	D	0.000000	T	0.73799	0.3633	L	0.31526	0.94	0.80722	D	1	B;B	0.18863	0.007;0.031	B;B	0.18561	0.002;0.022	T	0.66524	-0.5902	10	0.30078	T	0.28	-25.9701	19.7343	0.96195	0.0:0.0:1.0:0.0	.	99;155	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	H	155;153;155;155;155;99;193	ENSP00000303580:R155H;ENSP00000377462:R153H;ENSP00000377458:R155H;ENSP00000377459:R155H;ENSP00000377463:R155H;ENSP00000312773:R193H	ENSP00000303580:R155H	R	+	2	0	NKIRAS2	37429325	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.178000	0.58284	2.660000	0.90430	0.467000	0.42956	CGC			0.617	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257457.1		NM_017595		A	40175799	G	A	40175799	3	1	32	1	0	0	0	0	1	0	0	0	10462	1087	38	1	474	1	NKIRAS2	17	40175799	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		40175799	41019411	45	2272											
HDAC5	10014	mdanderson.org	37	chr17	42160955	42160955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaaggccagctccagcagGcagcccactgccatgcgcac	9	5	11	16	1	0	1	0	1	0	0	1	1	1	1	4	2	5	4	4	2	1	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr17:42160955G>A	ENST00000393622.2	-	18	2752	c.2421C>T	c.(2419-2421)tgC>tgT	p.C807C	HDAC5_ENST00000586802.1_Silent_p.C807C|HDAC5_ENST00000336057.5_Silent_p.C722C|HDAC5_ENST00000225983.6_Silent_p.C808C	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	807	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GCTCCAGCAGGCAGCCCACTG	0.632																																					p.C808C													.	.			0			c.C2424T												65	52	56					17																	42160955		2203	4299	6502	SO:0001819	synonymous_variant	10014	exon18			CAGCAGGCAGCCC	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.2421C>T	17.37:g.42160955G>A			88	0	0		82	0.05	4	NM_001015053	192	0	0	C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	CCDS45696.1																																																																																					0.632	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000457686.1		NM_001015053		A	42160955	G	A	42160955	2	1	32	1	0	0	0	0	0	0	0	1	7025	1195	42	2		2	HDAC5	17	42160955	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	1985156	42160955	39034255	46	2273											
RPTOR	57521	hgsc.bcm.edu;mdanderson.org	37	chr17	78921151	78921151	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctgctgacggccacaGgtgagcggggtttgcacagc	6	8	15	12	3	1	2	0	2	1	0	1	2	1	2	1	4	4	4	1	4	0	2			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr17:78921151G>T	ENST00000306801.3	+	27	3627	c.3265G>T	c.(3265-3267)Gac>Tac	p.D1089Y	RPTOR_ENST00000544334.2_Splice_Site_p.D931Y|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1089					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GACGGCCACAGGTGAGCGGGG	0.562																																					p.D1089Y													.	.			0			c.G3265T												50	42	44					17																	78921151		2203	4300	6503	SO:0001630	splice_region_variant	57521	exon27			GCCACAGGTGAGC		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3265+1G>T	17.37:g.78921151G>T			86	0	0		90	0.04	4	NM_020761	42	0	0	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286501	0.59867	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.29397	1.57;1.57	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.956	T	0.61667	-0.7016	10	0.59425	D	0.04	.	18.5401	0.91024	0.0:0.0:1.0:0.0	.	931;1089	F5H7J5;Q8N122	.;RPTOR_HUMAN	Y	1089;931	ENSP00000307272:D1089Y;ENSP00000442479:D931Y	ENSP00000307272:D1089Y	D	+	1	0	RPTOR	76535746	1.000000	0.71417	0.979000	0.43373	0.012000	0.07955	9.325000	0.96381	2.374000	0.81015	0.561000	0.74099	GAC			0.562	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438125.1		NM_020761	Missense_Mutation	T	78921151	G	T	78921151	5	4	32	1	0	0	0	0	0	0	1	0	13688	1014	35	3	3371	3	RPTOR	17	78921151	Splice_Site	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	36760196	78921151	2274059	47	2274											
FN3KRP	79672	broad.mit.edu	37	chr17	80674698	80674698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggccactcggggggcGggtgcatcagccagggccgg	5	3	19	14	4	1	0	1	0	0	0	2	0	1	0	4	7	2	1	4	7	0	0			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr17:80674698G>T	ENST00000269373.6	+	1	140	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	RP11-388C12.1_ENST00000574471.1_lincRNA|FN3KRP_ENST00000535965.1_5'UTR	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	23							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTCGGGGGGCGGGTGCATCAG	0.716																																					p.G23W													.	FN3KRP	31		0			c.G67T												23	25	24					17																	80674698		2195	4292	6487	SO:0001583	missense	79672	exon1			GGGGGCGGGTGCA	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.67G>T	17.37:g.80674698G>T	ENSP00000269373:p.Gly23Trp		345	0.0028985507	1		410	0.02	7	NM_024619	33	0	0	Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	G	35	5.434427	0.96150	.	.	ENSG00000141560	ENST00000269373	T	0.70164	-0.46	5.29	5.29	0.74685	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88962	0.6580	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92670	0.6149	10	0.87932	D	0	-34.9178	19.2907	0.94098	0.0:0.0:1.0:0.0	.	23	Q9HA64	KT3K_HUMAN	W	23	ENSP00000269373:G23W	ENSP00000269373:G23W	G	+	1	0	FN3KRP	78267987	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	8.691000	0.91279	2.610000	0.88304	0.650000	0.86243	GGG			0.716	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439219.1		NM_024619		T	80674698	G	T	80674698	3	4	32	1	0	0	0	0	1	0	0	0	5977	1116	39	1	69	1	FN3KRP	17	80674698	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	1753547	80674698	520512	48	2275											
FN3K	64122	broad.mit.edu;mdanderson.org	37	chr17	80696387	80696387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagatgtttgagggggAggtggccagcctggaggccc	6	6	19	10	1	0	2	0	1	0	1	0	4	0	4	4	7	1	2	4	7	0	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr17:80696387A>G	ENST00000300784.7	+	2	226	c.164A>G	c.(163-165)gAg>gGg	p.E55G		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	55					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTTGAGGGGGAGGTGGCCAGC	0.657																																					p.E55G	Melanoma(10;391 597 14592 32548 32749)												.	FN3K	17		0			c.A164G												46	51	49					17																	80696387		2203	4300	6503	SO:0001583	missense	64122	exon2			AGGGGGAGGTGGC	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.164A>G	17.37:g.80696387A>G	ENSP00000300784:p.Glu55Gly		27	0	0		52	0.08	4	NM_022158	43	0	0		Missense_Mutation	SNP	ENST00000300784.7	37	CCDS11818.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.854601	0.91355	.	.	ENSG00000167363	ENST00000300784;ENST00000457624;ENST00000536165	T	0.80304	-1.36	4.93	4.93	0.64822	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94847	0.8010	9	.	.	.	-18.8499	12.8398	0.57794	1.0:0.0:0.0:0.0	.	55;10	Q9H479;B3KNR9	FN3K_HUMAN;.	G	55;55;10	ENSP00000300784:E55G	.	E	+	2	0	FN3K	78289676	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.263000	0.89864	1.975000	0.57531	0.477000	0.44152	GAG			0.657	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439229.1		NM_022158		G	80696387	A	G	80696387	3	3	32	1	0	0	0	0	1	0	0	0	5976	304	11	4	170	4	FN3K	17	80696387	Missense_Mutation	SNP	A	TCGA-2G-AAGK-01A-11D-A42Y-10	21689	80696387	498823	49	2276											
ATP8B1	5205	mdanderson.org	37	chr18	55371824	55371824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaaatataaattggctGctctcttaaactgctcaaac	14	11	6	10	0	2	0	1	0	1	0	3	1	2	1	1	2	4	3	1	2	7	4			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr18:55371824G>T	ENST00000283684.4	-	3	355	c.356C>A	c.(355-357)gCa>gAa	p.A119E	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000589147.1_5'UTR|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A119E|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	119					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAAATTGGCTGCTCTCTTAAA	0.318																																					p.A119E													.	.			0			c.C356A												126	130	129					18																	55371824		2202	4300	6502	SO:0001583	missense	5205	exon4			TTGGCTGCTCTCT	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.356C>A	18.37:g.55371824G>T	ENSP00000283684:p.Ala119Glu		53	0	0		34	0.09	3	NM_005603	8	0	0	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713706	0.68730	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.63580	-0.05;-0.05	6.03	4.06	0.47325	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.211717	0.49305	D	0.000155	T	0.63733	0.2536	M	0.76574	2.34	0.44966	D	0.997982	P	0.51240	0.943	P	0.45099	0.469	T	0.68439	-0.5408	10	0.62326	D	0.03	.	10.2696	0.43475	0.2191:0.0:0.7809:0.0	.	119	O43520	AT8B1_HUMAN	E	119	ENSP00000283684:A119E;ENSP00000445359:A119E	ENSP00000283684:A119E	A	-	2	0	ATP8B1	53522822	0.988000	0.35896	1.000000	0.80357	0.927000	0.56198	1.927000	0.40094	1.400000	0.46741	0.637000	0.83480	GCA			0.318	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256097.1		NM_005603		T	55371824	G	T	55371824	3	4	32	1	0	0	0	0	1	0	0	0	1194	1319	46	2	3499	2	ATP8B1	18	55371824	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		55371824	22705424	50	2277											
ICAM5	7087	mdanderson.org	37	chr19	10402486	10402486	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagctccgaaccttctGtgagtgggtgtggggaggag	8	8	18	7	1	1	2	0	1	1	1	2	6	2	4	2	4	2	1	2	4	1	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr19:10402486G>T	ENST00000221980.4	+	3	736		c.e3+1		CTD-2369P2.8_ENST00000589379.1_RNA	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin						phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGAACCTTCTGTGAGTGGGTG	0.592																																					.													.	.			0			c.673+1G>T												18	22	20					19																	10402486		1983	3987	5970	SO:0001630	splice_region_variant	7087	exon3			CCTTCTGTGAGTG	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.673+1G>T	19.37:g.10402486G>T			62	0	0		54	0.06	3	NM_003259	0		0	Q9Y6F3	Splice_Site	SNP	ENST00000221980.4	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633369	0.67015	.	.	ENSG00000105376	ENST00000221980	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5068	0.67758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ICAM5	10263486	1.000000	0.71417	0.989000	0.46669	0.838000	0.47535	5.109000	0.64615	2.508000	0.84585	0.472000	0.43445	.			0.592	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451217.1		NM_003259	Intron	T	10402486	G	T	10402486	5	4	32	1	0	0	0	0	0	0	1	0	7498	1391	48	3	684	3	ICAM5	19	10402486	Splice_Site	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		10402486	48726497	51	2278											
GTPBP3	84705	mdanderson.org	37	chr19	17449511	17449511	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctggacggagagctGggccacctctgccgtggctg	6	6	17	12	2	1	1	0	0	1	1	1	3	1	2	3	5	3	4	3	5	0	0			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr19:17449511G>T	ENST00000324894.8	+	4	620	c.552G>T	c.(550-552)ctG>ctT	p.L184L	GTPBP3_ENST00000358792.7_Silent_p.L184L|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Silent_p.L184L|GTPBP3_ENST00000361619.5_Silent_p.L206L	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	184					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACGGAGAGCTGGGCCACCTCT	0.642																																					p.L206L													.	.			0			c.G618T												35	50	45					19																	17449511		2202	4298	6500	SO:0001819	synonymous_variant	84705	exon4			AGAGCTGGGCCAC	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.552G>T	19.37:g.17449511G>T			49	0	0		41	0.07	3	NM_001195422	84	0	0	A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	CCDS32951.1																																																																																					0.642	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463624.1		NM_032620		T	17449511	G	T	17449511	2	4	32	1	0	0	0	0	0	0	0	1	6896	1335	47	3		3	GTPBP3	19	17449511	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	7047025	17449511	41679472	52	2279											
COMP	1311	mdanderson.org	37	chr19	18896612	18896612	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtcgatcttgtctacCaccttgtctgcatcaaagtc	9	12	6	14	2	4	0	1	0	3	0	6	1	4	0	2	0	2	1	2	0	2	3			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr19:18896612C>A	ENST00000222271.2	-	14	1583	c.1539G>T	c.(1537-1539)gtG>gtT	p.V513V	COMP_ENST00000425807.1_Silent_p.V460V|COMP_ENST00000542601.2_Silent_p.V480V	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	513			Missing (in PSACH; mild form). {ECO:0000269|PubMed:9184241}.		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTTGTCTACCACCTTGTCTG	0.637																																					p.V513V													.	.			0			c.G1539T												89	75	79					19																	18896612		2203	4300	6503	SO:0001819	synonymous_variant	1311	exon14			GTCTACCACCTTG	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1539G>T	19.37:g.18896612C>A			50	0	0		41	0.07	3	NM_000095	30	0	0	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	CCDS12385.1																																																																																					0.637	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403457.1		NM_000095		A	18896612	C	A	18896612	2	1	32	1	0	0	0	0	0	0	0	1	3726	581	21	3		3	COMP	19	18896612	Silent	SNP	C	TCGA-2G-AAGK-01A-11D-A42Y-10	1447101	18896612	40232371	53	2280											
NFKBIB	4793	mdanderson.org	37	chr19	39390769	39390769	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacgcagcggcccccggaGgacctgggttgggcgcggag	5	3	20	13	6	0	0	0	0	0	0	0	4	0	4	3	7	1	2	3	7	0	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr19:39390769G>T	ENST00000313582.5	+	1	131	c.97G>T	c.(97-99)Gga>Tga	p.G33*	NFKBIB_ENST00000572515.1_Nonsense_Mutation_p.G33*|SIRT2_ENST00000392081.2_5'Flank|SIRT2_ENST00000358931.5_5'Flank|SIRT2_ENST00000481381.1_5'Flank|SIRT2_ENST00000249396.7_5'Flank|NFKBIB_ENST00000392079.3_Missense_Mutation_p.E19D	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	33					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGCCCCCGGAGGACCTGGGTT	0.687											OREG0032100	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									p.G33X	Pancreas(165;1492 2005 6979 7739 34483)												.	.			0			c.G97T												12	15	14					19																	39390769		2197	4293	6490	SO:0001587	stop_gained	4793	exon1			CCCGGAGGACCTG	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.97G>T	19.37:g.39390769G>T	ENSP00000312988:p.Gly33*		37	0	0	885	36	0.08	3	NM_002503	70	0	0	A8K3F4|Q96BJ7	Nonsense_Mutation	SNP	ENST00000313582.5	37	CCDS12524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.478906|5.478906	0.96291|0.96291	.|.	.|.	ENSG00000104825|ENSG00000104825	ENST00000392079|ENST00000509705;ENST00000313582	T|.	0.48201|.	0.82|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.132080	.|0.34777	.|N	.|0.003700	T|.	0.41305|.	0.1153|.	.|.	.|.	.|.	0.20563|0.20563	N|N	0.999888|0.999888	B|.	0.21905|.	0.062|.	B|.	0.21917|.	0.037|.	T|.	0.28138|.	-1.0053|.	8|.	0.14656|0.24483	T|T	0.56|0.36	-11.6372|-11.6372	15.2583|15.2583	0.73601|0.73601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	19|.	G5E9C2|.	.|.	D|X	19|56;33	ENSP00000375929:E19D|.	ENSP00000375929:E19D|ENSP00000312988:G33X	E|G	+|+	3|1	2|0	NFKBIB|NFKBIB	44082609|44082609	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.680000|0.680000	0.39746|0.39746	3.418000|3.418000	0.52721|0.52721	2.605000|2.605000	0.88082|0.88082	0.609000|0.609000	0.83330|0.83330	GAG|GGA			0.687	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438155.1		NM_002503		T	39390769	G	T	39390769	4	4	32	1	0	0	0	0	0	1	0	0	10395	1001	35	3	99	3	NFKBIB	19	39390769	Nonsense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	20494157	39390769	19738214	54	2281											
LIPE	3991	mdanderson.org	37	chr19	42914477	42914477	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctggaagcccaggcagcgGccatagaagcatcccttatg	11	6	11	13	1	0	1	0	0	0	1	1	2	1	2	4	3	3	2	4	3	4	2			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr19:42914477G>T	ENST00000244289.4	-	2	1677	c.1401C>A	c.(1399-1401)ggC>ggA	p.G467G	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	467					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CCAGGCAGCGGCCATAGAAGC	0.627																																					p.G467G													.	.			0			c.C1401A												20	19	19					19																	42914477		2191	4291	6482	SO:0001819	synonymous_variant	3991	exon2			GCAGCGGCCATAG	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.1401C>A	19.37:g.42914477G>T			69	0	0		54	0.06	3	NM_005357	6	0	0	Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	CCDS12607.1																																																																																					0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463861.1		NM_005357		T	42914477	G	T	42914477	2	4	32	1	0	0	0	0	0	0	0	1	8836	1190	42	2		2	LIPE	19	42914477	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	3523708	42914477	16214506	55	2282											
LIPE	3991	mdanderson.org	37	chr19	42914758	42914758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgtgcactaggctgcGgtacccgttggccggtgtct	3	11	16	11	3	1	0	0	0	1	0	1	0	1	0	2	5	3	5	2	5	2	3			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr19:42914758G>T	ENST00000244289.4	-	2	1396	c.1120C>A	c.(1120-1122)Cgc>Agc	p.R374S	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	374					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACTAGGCTGCGGTACCCGTTG	0.682																																					p.R374S													.	.			0			c.C1120A												36	33	34					19																	42914758		2203	4299	6502	SO:0001583	missense	3991	exon2			GGCTGCGGTACCC	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.1120C>A	19.37:g.42914758G>T	ENSP00000244289:p.Arg374Ser		48	0	0		42	0.07	3	NM_005357	7	0	0	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182615	0.78677	.	.	ENSG00000079435	ENST00000244289	T	0.51574	0.7	4.42	4.42	0.53409	Hormone-sensitive lipase, N-terminal (1);	0.070377	0.56097	N	0.000024	T	0.70193	0.3196	M	0.85373	2.75	0.80722	D	1	D;P	0.69078	0.997;0.868	D;P	0.64410	0.925;0.453	T	0.76879	-0.2796	10	0.87932	D	0	-18.5216	16.3274	0.82990	0.0:0.0:1.0:0.0	.	374;374	A8K8W7;Q05469	.;LIPS_HUMAN	S	374	ENSP00000244289:R374S	ENSP00000244289:R374S	R	-	1	0	LIPE	47606598	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.722000	0.84778	2.479000	0.83701	0.455000	0.32223	CGC			0.682	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463861.1		NM_005357		T	42914758	G	T	42914758	3	4	32	1	0	0	0	0	1	0	0	0	8836	1116	39	1	2146	1	LIPE	19	42914758	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	281	42914758	16214225	56	2283											
NFATC2	4773	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr20	50049133	50049133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggatgagagccccgtgcgGaactgctggcagggagccat	8	5	18	10	2	0	1	0	1	0	1	0	5	0	4	3	5	5	2	3	5	1	0			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr20:50049133G>T	ENST00000396009.3	-	9	2412	c.2193C>A	c.(2191-2193)ttC>ttA	p.F731L	NFATC2_ENST00000414705.1_Missense_Mutation_p.F711L|NFATC2_ENST00000610033.1_Missense_Mutation_p.F512L|NFATC2_ENST00000371564.3_Missense_Mutation_p.F731L|NFATC2_ENST00000609943.1_Missense_Mutation_p.F711L|NFATC2_ENST00000609507.1_Missense_Mutation_p.F512L	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	731					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCCCGTGCGGAACTGCTGGC	0.687																																					p.F731L													.	NFATC2	112		0			c.C2193A												22	27	26					20																	50049133		2203	4299	6502	SO:0001583	missense	4773	exon9			CGTGCGGAACTGC	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.2193C>A	20.37:g.50049133G>T	ENSP00000379330:p.Phe731Leu		35	0.0285714286	1		38	0.13	5	NM_012340	3	0.33	1	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568125	0.28003	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.12672	2.67;2.67;2.66	5.45	3.39	0.38822	.	0.152429	0.50627	D	0.000120	T	0.04363	0.0120	N	0.03608	-0.345	0.30083	N	0.808962	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;0.001	T	0.31888	-0.9927	10	0.11485	T	0.65	-23.8473	4.3959	0.11363	0.0866:0.2438:0.5445:0.1251	.	711;711;731;731	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	731;731;711	ENSP00000360619:F731L;ENSP00000379330:F731L;ENSP00000396471:F711L	ENSP00000360619:F731L	F	-	3	2	NFATC2	49482540	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.396000	0.44468	1.310000	0.45006	-0.145000	0.13849	TTC			0.687	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079730.2		NM_012340		T	50049133	G	T	50049133	3	4	32	1	0	0	0	0	1	0	0	0	10379	1165	41	3	640	3	NFATC2	20	50049133	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		50049133	12976387	57	2284											
SDF2L1	23753	broad.mit.edu	37	chr22	21997332	21997332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcaccacttcccgtcgccGctgtccaacaaccaggtgag	9	6	9	17	4	0	1	0	1	0	0	3	1	2	1	5	1	2	2	5	1	2	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr22:21997332G>A	ENST00000248958.4	+	2	445	c.369G>A	c.(367-369)ccG>ccA	p.P123P	KB-1440D3.14_ENST00000609038.1_lincRNA	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	123	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				prostate(1)	1	Colorectal(54;0.105)					TCCCGTCGCCGCTGTCCAACA	0.692											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P123P													.	SDF2L1	5		0			c.G369A												8	9	9					22																	21997332		2141	4199	6340	SO:0001819	synonymous_variant	23753	exon2			GTCGCCGCTGTCC		CCDS13792.1	22q11.21	2008-07-01			ENSG00000128228	ENSG00000128228			10676	protein-coding gene	gene with protein product	"dihydropyrimidinase-like 2", "PWP1-interacting protein 8"	607551				10591208, 11162531	Standard	NM_022044		Approved	AP000553.C22.4, OTTHUMT00000075032	uc002zvf.3	Q9HCN8	OTTHUMG00000150820	ENST00000248958.4:c.369G>A	22.37:g.21997332G>A			145	0	0	752	176	0.03	5	NM_022044	222	0	0	A2RUD3|Q9BRI5	Silent	SNP	ENST00000248958.4	37	CCDS13792.1																																																																																					0.692	SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320197.1		NM_022044		A	21997332	G	A	21997332	2	1	32	1	0	0	0	0	0	0	0	1	13984	1074	38	1		1	SDF2L1	22	21997332	Silent	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10		21997332	29307234	58	2285											
CELSR1	9620	mdanderson.org	37	chr22	46931106	46931106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaccgcctccaccccgaaGctgtagtgctccacctcctc	6	8	6	21	2	0	0	0	0	0	0	5	1	4	0	9	0	2	3	9	0	2	1			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chr22:46931106G>T	ENST00000262738.3	-	1	1961	c.1962C>A	c.(1960-1962)agC>agA	p.S654R	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.S654R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	654	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACCCCGAAGCTGTAGTGCT	0.637																																					p.S654R													.	.			0			c.C1962A												30	25	27					22																	46931106		2200	4295	6495	SO:0001583	missense	9620	exon1			CCCGAAGCTGTAG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1962C>A	22.37:g.46931106G>T	ENSP00000262738:p.Ser654Arg		18	0	0		34	0.09	3	NM_014246	11	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.078|6.078	0.382667|0.382667	0.11524|0.11524	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|T;T	.|0.01821	.|4.62;4.62	4.52|4.52	3.5|3.5	0.40072|0.40072	.|Cadherin (4);Cadherin-like (1);	.|0.073333	.|0.52532	.|U	.|0.000075	T|T	0.01092|0.01092	0.0036|0.0036	N|N	0.05467|0.05467	-0.045|-0.045	0.29474|0.29474	N|N	0.85682|0.85682	.|B	.|0.21688	.|0.059	.|B	.|0.18263	.|0.021	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.18710	.|T	.|0.47	.|.	8.8|8.8	0.34903|0.34903	0.1759:0.0:0.8241:0.0|0.1759:0.0:0.8241:0.0	.|.	.|654	.|Q9NYQ6	.|CELR1_HUMAN	D|R	29|654	.|ENSP00000262738:S654R;ENSP00000379293:S654R	.|ENSP00000262738:S654R	A|S	-|-	2|3	0|2	CELSR1|CELSR1	45309770|45309770	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.835000|0.835000	0.47333|0.47333	1.825000|1.825000	0.39081|0.39081	0.898000|0.898000	0.36418|0.36418	0.313000|0.313000	0.20887|0.20887	GCT|AGC			0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		T	46931106	G	T	46931106	3	4	32	1	0	0	0	0	1	0	0	0	3223	962	34	2	7222	2	CELSR1	22	46931106	Missense_Mutation	SNP	G	TCGA-2G-AAGK-01A-11D-A42Y-10	24933774	46931106	4373460	59	2286											
PNPLA4	8228	broad.mit.edu	37	chrX	7868821	7868821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcttgcttgggggaaaaAgggcttggttgagtctcacc	7	12	13	9	0	2	1	1	1	2	0	4	2	3	2	2	4	1	3	2	4	2	4			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chrX:7868821A>G	ENST00000381042.4	-	7	838	c.668T>C	c.(667-669)cTt>cCt	p.L223P	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L136P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L223P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	223					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGGGGGAAAAAGGGCTTGGTT	0.353																																					p.L223P													.	PNPLA4	24		0			c.T668C												57	52	54					X																	7868821		2203	4299	6502	SO:0001583	missense	8228	exon7			GGAAAAAGGGCTT	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.668T>C	X.37:g.7868821A>G	ENSP00000370430:p.Leu223Pro		309	0.003236246	1		533	0.01	5	NM_004650	277	0	0	A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341460	0.41498	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	T;T;T	0.81078	-1.45;-1.45;-1.45	4.38	4.38	0.52667	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.193685	0.33127	N	0.005243	D	0.89866	0.6839	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90635	0.4570	10	0.87932	D	0	-22.634	9.3053	0.37872	1.0:0.0:0.0:0.0	.	223	P41247	PLPL4_HUMAN	P	223;223;136	ENSP00000370430:L223P;ENSP00000415245:L223P;ENSP00000443157:L136P	ENSP00000370430:L223P	L	-	2	0	PNPLA4	7828821	1.000000	0.71417	0.139000	0.22197	0.388000	0.30384	5.486000	0.66856	1.452000	0.47756	0.481000	0.45027	CTT			0.353	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055687.1		NM_004650		G	7868821	A	G	7868821	3	3	32	1	0	0	0	0	1	0	0	0	12184	72	3	4	97	4	PNPLA4	23	7868821	Missense_Mutation	SNP	A	TCGA-2G-AAGK-01A-11D-A42Y-10		7868821	147401739	60	2287											
SPIN2A	54466	broad.mit.edu	37	chrX	57162583	57162583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttgagctaagaccaTccccctccattcatccttag	9	11	7	14	0	1	2	1	1	0	1	4	2	4	2	5	1	2	2	5	1	2	4			TCGA-2G-AAGK-01A-11D-A42Y-10	TCGA-2G-AAGK-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bcb4a63-6ec0-420e-a4a3-92c2def85631	0d7f38e3-4f2b-481a-a7ec-4a19c0dda625	g.chrX:57162583T>C	ENST00000374908.1	-	1	847	c.448A>G	c.(448-450)Atg>Gtg	p.M150V	SPIN2A_ENST00000374906.3_Missense_Mutation_p.M150V			Q99865	SPI2A_HUMAN	spindlin family, member 2A	150					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				breast(1)|kidney(1)|ovary(1)	3						GCTAAGACCATCCCCCTCCAT	0.413																																					p.M150V													.	SPIN2A	7		0			c.A448G												88	79	82					X																	57162583		2201	4294	6495	SO:0001583	missense	54466	exon2			AGACCATCCCCCT	Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"spindlin family, member 2"	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.448A>G	X.37:g.57162583T>C	ENSP00000364043:p.Met150Val		415	0.0024096386	1		760	0.01	6	NM_019003	0		0	O75650|Q6IPW2|Q9UJJ0	Missense_Mutation	SNP	ENST00000374908.1	37	CCDS35312.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.471027	0.26423	.	.	ENSG00000147059	ENST00000374908;ENST00000374906	T;T	0.45276	0.9;0.9	2.74	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	L	0.33753	1.03	0.39768	D	0.972128	P	0.42827	0.791	P	0.62740	0.906	T	0.32428	-0.9907	10	0.23302	T	0.38	-23.7792	8.4178	0.32681	0.0:0.0:0.0:1.0	.	150	Q99865	SPI2A_HUMAN	V	150	ENSP00000364043:M150V;ENSP00000364041:M150V	ENSP00000364041:M150V	M	-	1	0	SPIN2A	57179308	1.000000	0.71417	0.997000	0.53966	0.897000	0.52465	6.373000	0.73128	1.327000	0.45338	0.345000	0.21793	ATG			0.413	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058915.1		NM_019003		C	57162583	T	C	57162583	3	2	32	1	0	0	0	0	1	0	0	0	15076	1435	50	4	332	4	SPIN2A	23	57162583	Missense_Mutation	SNP	T	TCGA-2G-AAGK-01A-11D-A42Y-10	49293762	57162583	98107977	61	2288											
AHDC1	27245	broad.mit.edu	37	chr1	27878527	27878528	+	Frame_Shift_Ins	INS	-	-	G																															ggaagcaggggccggggggtINSgggggggccgccggggtagt																										TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:27878527_27878528insG	ENST00000247087.5	-	5	695_696	c.99_100insC	c.(97-102)cccaccfs	p.T34fs	AHDC1_ENST00000374011.2_Frame_Shift_Ins_p.T34fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	34	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)		ggccggggggtgggggggccgc	0.708																																					p.T34fs													.	AHDC1	98		0			c.100_101insC									35,1099		16,3,548						0.5	1			1	174,1960		81,12,974	no	frameshift	AHDC1	NM_001029882.2		97,15,1522	A1A1,A1R,RR		8.1537,3.0864,6.3953				209,3059				SO:0001589	frameshift_variant	27245	exon6			GGGGGGTGGGGGG	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.100dupC	1.37:g.27878534_27878534dupG	ENSP00000247087:p.Thr34fs		51	0	0		38	0.26	10	NM_001029882	5	0	0	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Ins	INS	ENST00000247087.5	37	CCDS30652.1																																																																																					0.708	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009523.3				G	27878528	-	G	27878527	7	5	33	1	0	1	1	0	0	0	0	0	412	1696	59	0	4715	0	AHDC1	1	27878527	Frame_Shift_Ins	INS	-	TCGA-2G-AAGM-01A-11D-A42Y-10		27878527	221372094	1	2289											
SF3A3	10946	broad.mit.edu	37	chr1	38442580	38442580	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatctctacatattcataGatctgggcttctagaaaagc	14	12	7	8	0	4	3	1	0	3	3	5	3	4	3	0	1	2	1	0	1	7	6			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:38442580G>T	ENST00000373019.4	-	12	1936	c.981C>A	c.(979-981)atC>atA	p.I327I	SF3A3_ENST00000489537.1_5'Flank|SF3A3_ENST00000448721.2_Silent_p.I274I	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	327					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)				CATATTCATAGATCTGGGCTT	0.398																																					p.I327I													.	SF3A3	37		0			c.C981A												147	148	147					1																	38442580		2202	4300	6502	SO:0001819	synonymous_variant	10946	exon12			TTCATAGATCTGG	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.981C>A	1.37:g.38442580G>T			98	0	0		102	0.04	4	NM_006802	374	0	0	D3DPT5|Q15460|Q5VT87	Silent	SNP	ENST00000373019.4	37	CCDS428.1																																																																																					0.398	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012976.1		NM_006802		T	38442580	G	T	38442580	2	4	33	1	0	0	0	0	0	0	0	1	14171	932	33	3		3	SF3A3	1	38442580	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	10564053	38442580	210808041	2	2290											
ATP1A4	480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	160151732	160151732	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcccagaaacaaagtcttAatatttgggatcctggagga	13	11	9	8	0	1	1	0	0	1	1	3	4	3	4	2	3	1	0	2	3	4	4			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:160151732A>G	ENST00000368081.4	+	20	3351	c.2880A>G	c.(2878-2880)ttA>ttG	p.L960L	ATP1A4_ENST00000470705.1_Silent_p.L96L|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	960					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)			ACAAAGTCTTAATATTTGGGA	0.532																																					p.L960L													.	.			0			c.A2880G												129	131	130					1																	160151732		2203	4300	6503	SO:0001819	synonymous_variant	480	exon20			AGTCTTAATATTT	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.2880A>G	1.37:g.160151732A>G			128	0	0		114	0.51	58	NM_144699	16	0.38	6	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																					0.532	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077415.1		NM_144699		G	160151732	A	G	160151732	2	3	33	1	0	0	0	0	0	0	0	1	1131	359	13	4		4	ATP1A4	1	160151732	Silent	SNP	A	TCGA-2G-AAGM-01A-11D-A42Y-10	121709152	160151732	89098889	3	2291											
PIK3C2B	5287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	204403713	204403713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcagcagccagcgcaGgagtagataaagttctccac	12	5	11	13	2	1	1	0	0	1	1	2	2	1	2	3	1	3	5	3	1	3	3			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:204403713G>A	ENST00000367187.3	-	25	4096	c.3540C>T	c.(3538-3540)tcC>tcT	p.S1180S	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Silent_p.S1152S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1180	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGCCAGCGCAGGAGTAGATAA	0.547																																					p.S1180S													.	.			0			c.C3540T												51	43	46					1																	204403713		2203	4300	6503	SO:0001819	synonymous_variant	5287	exon25			AGCGCAGGAGTAG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3540C>T	1.37:g.204403713G>A			145	0	0		105	0.2	21	NM_002646	16	0.19	3	O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	CCDS1446.1																																																																																					0.547	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087965.1		NM_002646		A	204403713	G	A	204403713	2	1	33	1	0	0	0	0	0	0	0	1	11927	987	35	3		3	PIK3C2B	1	204403713	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	44251981	204403713	44846908	4	2292											
AKT3	10000	mdanderson.org	37	chr1	243828083	243828083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcttacctttcctctGgagtatctacatgaaatgtt	10	17	6	8	0	3	1	0	1	3	0	4	3	4	2	2	1	2	2	2	1	5	6			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:243828083G>T	ENST00000366539.1	-	4	475	c.275C>A	c.(274-276)cCa>cAa	p.P92Q	AKT3_ENST00000263826.5_Missense_Mutation_p.P92Q|AKT3_ENST00000336199.5_Missense_Mutation_p.P92Q|AKT3_ENST00000366540.1_Missense_Mutation_p.P92Q			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CCTTTCCTCTGGAGTATCTAC	0.313																																					p.P92Q													.	.			0			c.C275A												125	127	126					1																	243828083		2202	4299	6501	SO:0001583	missense	10000	exon4			TCCTCTGGAGTAT	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.275C>A	1.37:g.243828083G>T	ENSP00000355497:p.Pro92Gln		64	0	0		43	0.07	3	NM_001206729	36	0.03	1	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305860	0.81247	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	L	0.46157	1.445	0.80722	D	1	P;P	0.41498	0.752;0.708	B;B	0.42593	0.392;0.381	T	0.39542	-0.9609	10	0.62326	D	0.03	.	20.6647	0.99678	0.0:0.0:1.0:0.0	.	92;92	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	Q	92	ENSP00000336943:P92Q;ENSP00000355498:P92Q;ENSP00000355497:P92Q;ENSP00000263826:P92Q;ENSP00000447820:P92Q	ENSP00000263826:P92Q	P	-	2	0	AKT3	241894706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.753000	0.85153	2.890000	0.99128	0.655000	0.94253	CCA			0.313	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096479.1		NM_181690		T	243828083	G	T	243828083	3	4	33	1	0	0	0	0	1	0	0	0	481	1348	47	3	1256	3	AKT3	1	243828083	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	39424370	243828083	5422538	5	2293											
RANBP2	5903	mdanderson.org	37	chr2	109380793	109380793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagacagatcttttgtatgGcatgcccttgattatgcaga	10	14	9	8	0	2	4	1	1	1	3	2	4	2	4	1	1	2	3	1	1	2	5			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:109380793G>T	ENST00000283195.6	+	20	3924	c.3798G>T	c.(3796-3798)tgG>tgT	p.W1266C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1266	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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						CTTTTGTATGGCATGCCCTTG	0.383																																					p.W1266C													.	.			0			c.G3798T												79	79	79					2																	109380793		2203	4300	6503	SO:0001583	missense	5903	exon20			TGTATGGCATGCC	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.3798G>T	2.37:g.109380793G>T	ENSP00000283195:p.Trp1266Cys		51	0	0		48	0.06	3	NM_006267	62	0	0	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446644	0.63178	.	.	ENSG00000153201	ENST00000283195	T	0.49720	0.77	5.26	5.26	0.73747	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.79275	0.4418	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86005	0.1497	9	0.87932	D	0	-6.7166	18.8675	0.92298	0.0:0.0:1.0:0.0	.	1266	P49792	RBP2_HUMAN	C	1266	ENSP00000283195:W1266C	ENSP00000283195:W1266C	W	+	3	0	RANBP2	108747225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.430000	0.82344	0.650000	0.86243	TGG			0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253594.1		NM_006267		T	109380793	G	T	109380793	3	4	33	1	0	0	0	0	1	0	0	0	13051	1212	42	2	3876	2	RANBP2	2	109380793	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10		109380793	133818580	6	2294											
CNTNAP5	129684	mdanderson.org	37	chr2	125281916	125281916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcctgtggcactcggttaGcatcaacgccaggaggaacc	9	7	13	12	2	1	0	1	0	0	0	2	2	1	2	3	5	3	3	3	5	3	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:125281916G>T	ENST00000431078.1	+	9	1725	c.1361G>T	c.(1360-1362)aGc>aTc	p.S454I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	454	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACTCGGTTAGCATCAACGCC	0.527																																					p.S454I													CNTNAP5,rectum,carcinoma,0,2	CNTNAP5	0	2	0			c.G1361T												77	82	80					2																	125281916		2080	4221	6301	SO:0001583	missense	129684	exon9			CGGTTAGCATCAA	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1361G>T	2.37:g.125281916G>T	ENSP00000399013:p.Ser454Ile		111	0.009009009	1		97	0.04	4	NM_130773	0		0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579064	0.46006	.	.	ENSG00000155052	ENST00000431078	T	0.78595	-1.19	5.95	4.16	0.48862	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.095877	0.45361	D	0.000365	T	0.76076	0.3937	L	0.46741	1.465	0.45307	D	0.998309	P	0.52316	0.952	P	0.54856	0.762	T	0.74615	-0.3606	10	0.41790	T	0.15	.	4.6813	0.12736	0.2261:0.169:0.6049:0.0	.	454	Q8WYK1	CNTP5_HUMAN	I	454	ENSP00000399013:S454I	ENSP00000399013:S454I	S	+	2	0	CNTNAP5	124998386	1.000000	0.71417	0.997000	0.53966	0.345000	0.29048	1.695000	0.37763	1.542000	0.49330	-0.123000	0.14984	AGC			0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330864.3				T	125281916	G	T	125281916	3	4	33	1	0	0	0	0	1	0	0	0	3652	971	34	2	1395	2	CNTNAP5	2	125281916	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	15901123	125281916	117917457	7	2295											
TANK	10010	broad.mit.edu	37	chr2	162087615	162087615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaccaagaggactgtgCagagatgaggaagacacctc	14	5	12	10	0	1	4	1	1	0	3	2	7	1	6	2	2	1	1	2	2	2	0			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:162087615C>T	ENST00000392749.2	+	7	893	c.654C>T	c.(652-654)tgC>tgT	p.C218C	AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Silent_p.C218C|TANK_ENST00000405852.1_Silent_p.C218C|TANK_ENST00000402568.1_Intron|TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	218					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GAGGACTGTGCAGAGATGAGG	0.398																																					p.C218C													.	TANK	35		0			c.C654T												119	113	115					2																	162087615		2203	4300	6503	SO:0001819	synonymous_variant	10010	exon7			ACTGTGCAGAGAT	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.654C>T	2.37:g.162087615C>T			332	0	0		233	0.02	4	NM_004180	31	0	0	D3DPB5|Q7Z4J6|Q92885	Silent	SNP	ENST00000392749.2	37	CCDS2215.1																																																																																					0.398	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324232.1		NM_133484		T	162087615	C	T	162087615	2	4	33	1	0	0	0	0	0	0	0	1	15569	718	25	2		2	TANK	2	162087615	Silent	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10	36805699	162087615	81111758	8	2296											
OBSL1	23363	ucsc.edu	37	chr2	220422605	220422605	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctccagactggcaggTgtagagccctgcatgggctg	6	8	16	11	0	0	2	0	0	0	2	1	2	1	2	2	4	3	6	2	4	1	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:220422605T>G	ENST00000404537.1	-	11	3786	c.3730A>C	c.(3730-3732)Acc>Ccc	p.T1244P	OBSL1_ENST00000265318.4_Missense_Mutation_p.T1152P|OBSL1_ENST00000265317.5_Missense_Mutation_p.T235P|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Missense_Mutation_p.T1244P|OBSL1_ENST00000603926.1_Missense_Mutation_p.T1244P	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1244	Ig-like 10.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GACTGGCAGGTGTAGAGCCCT	0.677																																					p.T1244P													.	OBSL1	120		0			c.A3730C																																									SO:0001583	missense	23363	exon11			GGCAGGTGTAGAG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3730A>C	2.37:g.220422605T>G	ENSP00000385636:p.Thr1244Pro		27	0.4444444444	12		32	0.31	10	NM_001173431	123	0.23	28	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196777	0.38806	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	4.56	2.01	0.26516	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29684	0.0741	M	0.92833	3.35	0.24245	N	0.995343	D;D;D;D	0.89917	0.987;0.994;1.0;0.972	P;D;D;D	0.79108	0.904;0.968;0.992;0.925	T	0.10520	-1.0626	9	0.42905	T	0.14	.	3.4834	0.07610	0.164:0.2698:0.0:0.5662	.	143;1245;1244;235	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	P	1152;1244;1244;235	ENSP00000265318:T1152P;ENSP00000385636:T1244P;ENSP00000362983:T1244P;ENSP00000265317:T235P	ENSP00000265317:T235P	T	-	1	0	OBSL1	220130849	0.163000	0.22920	1.000000	0.80357	0.650000	0.38633	-0.013000	0.12678	0.632000	0.30432	0.260000	0.18958	ACC			0.677	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322012.1				G	220422605	T	G	220422605	3	3	33	1	0	0	0	0	1	0	0	0	10830	1696	59	4	2027	4	OBSL1	2	220422605	Missense_Mutation	SNP	T	TCGA-2G-AAGM-01A-11D-A42Y-10	58334990	220422605	22776768	9	2297											
SP100	6672	broad.mit.edu;mdanderson.org	37	chr2	231368922	231368922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaattcccaaagatgAaaatattaattttaaacaat	20	12	3	6	0	0	3	0	1	0	2	2	3	2	3	2	0	1	0	2	0	10	5			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:231368922A>G	ENST00000264052.5	+	21	2142	c.1787A>G	c.(1786-1788)gAa>gGa	p.E596G	SP100_ENST00000340126.4_Missense_Mutation_p.E596G|RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.E596G	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	596	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCAAAGATGAAAATATTAAT	0.408																																					p.E596G													.	SP100	167		0			c.A1787G												110	118	116					2																	231368922		2203	4300	6503	SO:0001583	missense	6672	exon21			AAGATGAAAATAT	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1787A>G	2.37:g.231368922A>G	ENSP00000264052:p.Glu596Gly		95	0.0105263158	1		89	0.04	4	NM_001080391	4	0	0	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750473	0.30955	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.74209	-0.82;-0.82;-0.82	4.54	-2.7	0.06004	SAND domain-like (2);SAND domain (2);	2.229890	0.02453	N	0.085732	T	0.72195	0.3430	M	0.72118	2.19	0.09310	N	1	B;B;B	0.30211	0.144;0.174;0.273	B;B;B	0.31686	0.082;0.134;0.134	T	0.59434	-0.7455	10	0.72032	D	0.01	.	6.2024	0.20583	0.2827:0.4534:0.0:0.2639	.	596;596;596	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	G	596;596;596;79	ENSP00000264052:E596G;ENSP00000386427:E596G;ENSP00000343023:E596G	ENSP00000264052:E596G	E	+	2	0	SP100	231077166	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.740000	0.04861	-0.424000	0.07382	0.533000	0.62120	GAA			0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256914.2		NM_003113		G	231368922	A	G	231368922	3	3	33	1	0	0	0	0	1	0	0	0	14983	246	9	4	1869	4	SP100	2	231368922	Missense_Mutation	SNP	A	TCGA-2G-AAGM-01A-11D-A42Y-10	10946317	231368922	11830451	10	2298											
GPR35	2859	mdanderson.org	37	chr2	241569516	241569516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgttctgctgccgcatGcagcagtggacggagacccg	6	8	16	11	3	1	1	0	0	1	1	1	3	1	2	2	3	4	5	2	3	0	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:241569516G>T	ENST00000319838.5	+	6	1089	c.147G>T	c.(145-147)atG>atT	p.M49I	GPR35_ENST00000438013.2_Missense_Mutation_p.M80I|GPR35_ENST00000403859.1_Missense_Mutation_p.M49I|GPR35_ENST00000407714.1_Missense_Mutation_p.M49I|GPR35_ENST00000430267.1_Missense_Mutation_p.M49I	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	49					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)		GCTGCCGCATGCAGCAGTGGA	0.642																																					p.M80I													.	.			0			c.G240T												89	79	82					2																	241569516		2203	4300	6503	SO:0001583	missense	2859	exon6			CCGCATGCAGCAG		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.147G>T	2.37:g.241569516G>T	ENSP00000322731:p.Met49Ile		48	0	0		34	0.09	3	NM_001195382	9	0	0	J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271222	0.23221	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	4.02	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.335550	0.29444	N	0.012125	T	0.28234	0.0697	L	0.45581	1.43	0.09310	N	1	P;P;B	0.40398	0.716;0.555;0.304	B;B;B	0.39068	0.289;0.25;0.159	T	0.13656	-1.0501	10	0.54805	T	0.06	-19.586	6.9451	0.24514	0.1061:0.183:0.711:0.0	.	134;80;49	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	I	49;49;80;49;49	ENSP00000322731:M49I;ENSP00000385140:M49I;ENSP00000415890:M80I;ENSP00000384263:M49I;ENSP00000411788:M49I	ENSP00000322731:M49I	M	+	3	0	GPR35	241218189	0.000000	0.05858	0.476000	0.27291	0.549000	0.35272	-0.062000	0.11674	1.001000	0.39076	0.462000	0.41574	ATG			0.642	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000325631.1		NM_001195382		T	241569516	G	T	241569516	3	4	33	1	0	0	0	0	1	0	0	0	6704	1319	46	2	149	2	GPR35	2	241569516	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	10200594	241569516	1629857	11	2299											
CCDC54	84692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	107097048	107097048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagttatccaaagtccaCtgaccatcttgagaaaaaaa	16	8	6	11	0	1	2	0	2	1	1	3	3	3	2	4	0	0	1	4	0	5	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr3:107097048C>T	ENST00000261058.1	+	1	861	c.614C>T	c.(613-615)aCt>aTt	p.T205I		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	205										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CCAAAGTCCACTGACCATCTT	0.398																																					p.T205I													.	.			0			c.C614T												74	73	74					3																	107097048		2203	4300	6503	SO:0001583	missense	84692	exon1			AGTCCACTGACCA	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.614C>T	3.37:g.107097048C>T	ENSP00000261058:p.Thr205Ile		394	0	0		311	0.36	112	NM_032600	0		0	Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	6.334	0.429674	0.11987	.	.	ENSG00000138483	ENST00000261058	T	0.49139	0.79	5.19	-1.76	0.08006	.	0.720633	0.11931	N	0.515755	T	0.37348	0.1000	M	0.62723	1.935	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.28554	-1.0040	10	0.31617	T	0.26	-0.9036	4.7891	0.13239	0.0:0.3586:0.275:0.3664	.	205	Q8NEL0	CCD54_HUMAN	I	205	ENSP00000261058:T205I	ENSP00000261058:T205I	T	+	2	0	CCDC54	108579738	0.004000	0.15560	0.000000	0.03702	0.458000	0.32498	0.772000	0.26647	-0.387000	0.07809	-0.384000	0.06662	ACT			0.398	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353651.1		NM_032600		T	107097048	C	T	107097048	3	4	33	1	0	0	0	0	1	0	0	0	2826	565	20	3	616	3	CCDC54	3	107097048	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10		107097048	90925382	12	2300											
TNIK	23043	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	170856034	170856034	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccttctttgtaatggtaCagtggcttcttctccacagg	7	16	8	10	0	3	0	0	0	3	0	5	0	4	0	2	3	1	3	2	3	2	7			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr3:170856034C>A	ENST00000436636.2	-	15	1898	c.1554G>T	c.(1552-1554)ctG>ctT	p.L518L	TNIK_ENST00000369326.5_Silent_p.L489L|TNIK_ENST00000284483.8_Silent_p.L518L|TNIK_ENST00000460047.1_Silent_p.L518L|TNIK_ENST00000488470.1_Silent_p.L518L|TNIK_ENST00000475336.1_Silent_p.L489L|TNIK_ENST00000357327.5_Silent_p.L489L|TNIK_ENST00000470834.1_Silent_p.L489L|TNIK_ENST00000341852.6_Silent_p.L489L|TNIK_ENST00000538048.1_Silent_p.L518L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	518	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)			TGTAATGGTACAGTGGCTTCT	0.507																																					p.L518L													.	TNIK	313		0			c.G1554T												94	99	97					3																	170856034		2042	4186	6228	SO:0001819	synonymous_variant	23043	exon15			ATGGTACAGTGGC	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.1554G>T	3.37:g.170856034C>A			250	0.004	1		182	0.1	18	NM_001161564	30	0.27	8	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	CCDS46956.1																																																																																					0.507	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000352973.2		XM_039796		A	170856034	C	A	170856034	2	1	33	1	0	0	0	0	0	0	0	1	16336	465	17	3		3	TNIK	3	170856034	Silent	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10	63758986	170856034	27166396	13	2301											
CLNK	116449	mdanderson.org	37	chr4	10567665	10567665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcctttataggccgggctGgtaaaattttaatcgactgc	10	14	9	8	2	0	0	0	0	0	0	2	1	1	0	2	3	1	2	2	3	5	7			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:10567665G>T	ENST00000226951.6	-	6	499	c.260C>A	c.(259-261)cCa>cAa	p.P87Q	CLNK_ENST00000442825.2_Missense_Mutation_p.P45Q|CLNK_ENST00000507719.1_Missense_Mutation_p.P45Q	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	87					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGGCCGGGCTGGTAAAATTTT	0.448																																					p.P87Q	GBM(87;402 1286 6949 13902 35851)												.	.			0			c.C260A												75	73	73					4																	10567665		1876	4116	5992	SO:0001583	missense	116449	exon6			CGGGCTGGTAAAA	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.260C>A	4.37:g.10567665G>T	ENSP00000226951:p.Pro87Gln		132	0	0		85	0.05	4	NM_052964	0		0	Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099194	0.56183	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.68479	-0.01;-0.33;-0.33	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.74809	0.3765	L	0.36672	1.1	0.38655	D	0.951936	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.78516	-0.2174	10	0.87932	D	0	-11.5853	14.993	0.71406	0.0:0.0:1.0:0.0	.	45;87	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	Q	87;87;45;45	ENSP00000226951:P87Q;ENSP00000390744:P45Q;ENSP00000427208:P45Q	ENSP00000226951:P87Q	P	-	2	0	CLNK	10176763	1.000000	0.71417	0.992000	0.48379	0.240000	0.25518	3.029000	0.49712	2.616000	0.88540	0.585000	0.79938	CCA			0.448	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359047.1		NM_052964		T	10567665	G	T	10567665	3	4	33	1	0	0	0	0	1	0	0	0	3549	1348	47	3	1082	3	CLNK	4	10567665	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10		10567665	180586611	14	2302											
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	30725848	30725848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacaaatctaaaaagcctaAaaaggacaagaaaaacaaaa	26	4	5	6	0	1	2	0	1	1	1	1	3	1	3	1	1	2	0	1	1	12	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:30725848A>G	ENST00000361762.2	+	1	3812	c.2804A>G	c.(2803-2805)aAa>aGa	p.K935R	PCDH7_ENST00000543491.1_Missense_Mutation_p.K935R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	935					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAAAGCCTAAAAAGGACAAG	0.398																																					p.K935R													.	.			0			c.A2804G												80	83	82					4																	30725848		2203	4300	6503	SO:0001583	missense	5099	exon1			AGCCTAAAAAGGA	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2804A>G	4.37:g.30725848A>G	ENSP00000355243:p.Lys935Arg		81	0	0		57	0.37	21	NM_032457	49	0.51	25	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805881	0.31961	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.33654	1.4;1.4	5.16	5.16	0.70880	Protocadherin (1);	.	.	.	.	T	0.26955	0.0660	N	0.20357	0.565	0.48762	D	0.999709	B;B;P	0.37141	0.02;0.149;0.584	B;B;B	0.37304	0.03;0.109;0.246	T	0.06643	-1.0815	9	0.35671	T	0.21	.	15.1597	0.72775	1.0:0.0:0.0:0.0	.	935;888;935	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	R	935;935;888	ENSP00000355243:K935R;ENSP00000441802:K935R	ENSP00000330302:K888R	K	+	2	0	PCDH7	30334946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.962000	0.76048	2.168000	0.68352	0.533000	0.62120	AAA			0.398	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000360366.1		NM_032457, NM_002589		G	30725848	A	G	30725848	3	3	33	1	0	0	0	0	1	0	0	0	11533	14	1	4	2806	4	PCDH7	4	30725848	Missense_Mutation	SNP	A	TCGA-2G-AAGM-01A-11D-A42Y-10	20158183	30725848	160428428	15	2303											
FRYL	285527	broad.mit.edu	37	chr4	48537740	48537740	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcaggtatctgcacacGacattgatccagttagaaca	13	10	8	10	1	2	2	1	1	1	1	3	3	3	2	1	1	3	4	1	1	3	3			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:48537740G>T	ENST00000503238.1	-	45	6497	c.6498C>A	c.(6496-6498)gtC>gtA	p.V2166V	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Silent_p.V2166V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.V2166V			O94915	FRYL_HUMAN	FRY-like	2166					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						ATCTGCACACGACATTGATCC	0.373																																					p.V2166V													.	FRYL	242		0			c.C6498A												96	97	97					4																	48537740		1907	4141	6048	SO:0001819	synonymous_variant	285527	exon48			GCACACGACATTG	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.6498C>A	4.37:g.48537740G>T			459	0	0		337	0.01	5	NM_015030	11	0	0	O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	8.262	0.811328	0.16537	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.98	-12.0	0.00017	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39981	-0.9587	4	.	.	.	.	2.08	0.03633	0.1912:0.2776:0.32:0.2112	.	.	.	.	S	1036	.	.	R	-	1	0	FRYL	48232497	0.001000	0.12720	0.225000	0.23894	0.954000	0.61252	-1.531000	0.02219	-2.377000	0.00597	-0.274000	0.10170	CGT			0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000369265.2				T	48537740	G	T	48537740	2	4	33	1	0	0	0	0	0	0	0	1	6077	1045	37	1		1	FRYL	4	48537740	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	17811892	48537740	142616536	16	2304											
PDLIM5	10611	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	95496980	95496980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcacccgtggctgccGtcactcctcccctgttcgct	2	11	7	21	3	2	0	2	0	0	0	5	0	4	0	7	1	1	3	7	1	0	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:95496980G>C	ENST00000317968.4	+	5	641	c.505G>C	c.(505-507)Gtc>Ctc	p.V169L	PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.V47L|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000514743.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	169					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGTGGCTGCCGTCACTCCTCC	0.547																																					p.V169L													.	PDLIM5	76		0			c.G505C												211	167	182					4																	95496980		2203	4300	6503	SO:0001583	missense	10611	exon5			GCTGCCGTCACTC	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.505G>C	4.37:g.95496980G>C	ENSP00000321746:p.Val169Leu		332	0.0060240964	2		220	0.25	56	NM_006457	59	0.25	15	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600626	0.13939	.	.	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.58210	0.76;0.35	4.75	3.04	0.35103	.	0.499150	0.19183	N	0.120622	T	0.41903	0.1179	L	0.44542	1.39	0.25727	N	0.985314	B	0.24483	0.104	B	0.23150	0.044	T	0.23476	-1.0187	10	0.25751	T	0.34	.	10.4869	0.44729	0.1493:0.0:0.8507:0.0	.	169	Q96HC4	PDLI5_HUMAN	L	169;47	ENSP00000321746:V169L;ENSP00000442187:V47L	ENSP00000321746:V169L	V	+	1	0	PDLIM5	95716003	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.952000	0.49097	0.614000	0.30107	-0.794000	0.03295	GTC			0.547	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253586.1				C	95496980	G	C	95496980	3	2	33	1	0	0	0	0	1	0	0	0	11700	1145	40	5	519	5	PDLIM5	4	95496980	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	46959240	95496980	95657296	17	2305											
PDE5A	8654	mdanderson.org	37	chr4	120423806	120423806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcagttgctacaagttctGctatctgaaataaataacag	15	13	6	7	0	3	1	1	1	2	0	3	1	3	1	0	0	4	4	0	0	7	7			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:120423806G>T	ENST00000354960.3	-	19	2655	c.2336C>A	c.(2335-2337)gCa>gAa	p.A779E	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.A737E|PDE5A_ENST00000394439.1_Missense_Mutation_p.A727E	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	779	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)	TACAAGTTCTGCTATCTGAAA	0.358																																					p.A779E													.	.			0			c.C2336A												80	78	78					4																	120423806		2203	4299	6502	SO:0001583	missense	8654	exon19			AGTTCTGCTATCT	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.2336C>A	4.37:g.120423806G>T	ENSP00000347046:p.Ala779Glu		67	0	0		44	0.07	3	NM_001083	4	0	0	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.344760|5.344760	0.95807|0.95807	.|.	.|.	ENSG00000138735|ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805|ENST00000503412	D;D;D|.	0.84589|.	-1.87;-1.87;-1.87|.	6.06|6.06	6.06|6.06	0.98353|0.98353	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86793|0.86793	0.6018|0.6018	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.992|.	D;D|.	0.91635|.	0.999;0.916|.	D|D	0.88097|0.88097	0.2817|0.2817	10|5	0.87932|.	D|.	0|.	.|.	20.6397|20.6397	0.99537|0.99537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	779;737|.	O76074;O76074-2|.	PDE5A_HUMAN;.|.	E|K	779;727;737|131	ENSP00000347046:A779E;ENSP00000377957:A727E;ENSP00000264805:A737E|.	ENSP00000264805:A737E|.	A|Q	-|-	2|1	0|0	PDE5A|PDE5A	120643254|120643254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.437000|8.437000	0.90302|0.90302	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GCA|CAG			0.358	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256529.1		NM_001083		T	120423806	G	T	120423806	3	4	33	1	0	0	0	0	1	0	0	0	11661	1319	46	2	303	2	PDE5A	4	120423806	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	24926826	120423806	70730470	18	2306											
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	125631497	125631497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccactagcattattcccaGaattcattacaagtgatggt	13	12	6	10	0	1	2	1	1	0	1	2	2	2	2	2	1	2	1	2	1	5	5			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:125631497G>A	ENST00000504087.1	-	2	1207	c.170C>T	c.(169-171)tCt>tTt	p.S57F	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	57										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTATTCCCAGAATTCATTAC	0.502																																					p.S57F													.	.			0			c.C170T												86	85	85					4																	125631497		2203	4300	6503	SO:0001583	missense	57182	exon2			TTCCCAGAATTCA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.170C>T	4.37:g.125631497G>A	ENSP00000425658:p.Ser57Phe		281	0	0		161	0.24	38	NM_020337	20	0.35	7	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576984	0.45902	.	.	ENSG00000151458	ENST00000504087	T	0.19394	2.15	5.23	5.23	0.72850	.	0.329273	0.33217	N	0.005145	T	0.21590	0.0520	L	0.34521	1.04	0.80722	D	1	B	0.22480	0.07	B	0.25140	0.058	T	0.03784	-1.1004	10	0.66056	D	0.02	.	18.9826	0.92760	0.0:0.0:1.0:0.0	.	57	Q9ULJ7	ANR50_HUMAN	F	57	ENSP00000425658:S57F	ENSP00000425658:S57F	S	-	2	0	ANKRD50	125850947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.578000	0.74032	2.721000	0.93114	0.561000	0.74099	TCT			0.502	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364775.1		NM_020337		A	125631497	G	A	125631497	3	1	33	1	0	0	0	0	1	0	0	0	677	942	33	3	4131	3	ANKRD50	4	125631497	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	5207691	125631497	65522779	19	2307											
KIAA0947	23379	mdanderson.org	37	chr5	5473678	5473678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatttgctagaatgcccCggtagatgttggcttcatgg	7	15	11	8	1	2	2	2	0	0	2	2	2	2	2	2	3	2	4	2	3	3	6			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:5473678C>A	ENST00000296564.7	+	16	6452	c.6230C>A	c.(6229-6231)cCg>cAg	p.P2077Q		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2077					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						TAGAATGCCCCGGTAGATGTT	0.333																																					p.P2077Q													.	.			0			c.C6230A												48	45	46					5																	5473678		1825	4075	5900	SO:0001583	missense	23379	exon16			ATGCCCCGGTAGA																												ENST00000296564.7:c.6230C>A	5.37:g.5473678C>A	ENSP00000296564:p.Pro2077Gln		81	0	0		34	0.09	3	NM_015325	57	0.02	1	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003193	0.74932	.	.	ENSG00000164151	ENST00000296564	T	0.12879	2.64	5.5	5.5	0.81552	.	.	.	.	.	T	0.33147	0.0853	L	0.50333	1.59	0.49798	D	0.999821	D	0.89917	1.0	D	0.75484	0.986	T	0.01238	-1.1409	9	0.72032	D	0.01	-12.3272	16.8879	0.86080	0.0:1.0:0.0:0.0	.	2077	Q9Y2F5	K0947_HUMAN	Q	2077	ENSP00000296564:P2077Q	ENSP00000296564:P2077Q	P	+	2	0	KIAA0947	5526678	0.998000	0.40836	0.519000	0.27824	0.894000	0.52154	5.923000	0.70045	2.593000	0.87608	0.650000	0.86243	CCG			0.333	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365575.1				A	5473678	C	A	5473678	3	1	33	1	0	0	0	0	1	0	0	0	8217	652	23	1	6292	1	KIAA0947	5	5473678	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10		5473678	175441582	20	2308											
SLC25A46	91137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	110097196	110097196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgctaactttgctgccaGtctttgttctgacgttatac	7	18	7	9	1	2	1	0	1	2	0	2	1	2	1	1	0	5	4	1	0	4	8			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:110097196G>A	ENST00000355943.3	+	8	1097	c.971G>A	c.(970-972)aGt>aAt	p.S324N	SLC25A46_ENST00000447245.2_Missense_Mutation_p.S243N|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Missense_Mutation_p.S178N|SLC25A46_ENST00000509432.1_Missense_Mutation_p.S111N|SLC25A46_ENST00000509442.2_Missense_Mutation_p.S233N|SLC25A46_ENST00000513807.1_Missense_Mutation_p.S162N	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	324					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGCTGCCAGTCTTTGTTCT	0.418																																					p.S324N													.	.			0			c.G971A												298	287	291					5																	110097196		2202	4300	6502	SO:0001583	missense	91137	exon8			CTGCCAGTCTTTG	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"Solute carriers"	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.971G>A	5.37:g.110097196G>A	ENSP00000348211:p.Ser324Asn		129	0	0		83	0.29	24	NM_138773	10	0.1	1	A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865583	0.17250	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098;ENST00000509432	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.51	5.51	0.81932	Mitochondrial carrier domain (2);	0.077536	0.85682	D	0.000000	T	0.72236	0.3435	L	0.31476	0.935	0.51233	D	0.999912	B;B	0.31519	0.085;0.327	B;B	0.38056	0.054;0.264	T	0.66858	-0.5817	10	0.18710	T	0.47	-13.3358	19.4187	0.94712	0.0:0.0:1.0:0.0	.	233;324	B4DY98;Q96AG3	.;S2546_HUMAN	N	162;233;324;178;243;178;111	ENSP00000421134:S162N;ENSP00000424136:S233N;ENSP00000348211:S324N;ENSP00000399717:S243N;ENSP00000425708:S178N;ENSP00000426604:S111N	ENSP00000348211:S324N	S	+	2	0	SLC25A46	110125095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.786000	0.55431	2.585000	0.87301	0.650000	0.86243	AGT			0.418	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250721.5		NM_138773		A	110097196	G	A	110097196	3	1	33	1	0	0	0	0	1	0	0	0	14534	1029	36	3	1001	3	SLC25A46	5	110097196	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	104623518	110097196	70818064	21	2309											
PCDHB7	56129	hgsc.bcm.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	5	7	16	13	6	0	0	0	0	0	0	2	3	1	0	2	3	2	3	2	3	1	3	rs374392843		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	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)	p.A526A(1)		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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0	0	5008	,	,		16269	0		0.001	False		,,,				2504	0				p.A526A													PCDHB7,NS,carcinoma,0,4	PCDHB7	0	4	1	Substitution - coding silent(1)	lung(1)	c.G1578T												62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			GCAGGCGTTCGAG	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.1578G>T	5.37:g.140553994G>T			70	0.0142857143	1		44	0.07	3	NM_018940	11	0	0	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																					0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251803.2		NM_018940		T	140553994	G	T	140553994	2	4	33	1	0	0	0	0	0	0	0	1	11564	1132	40	1		1	PCDHB7	5	140553994	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	30456798	140553994	40361266	22	2310											
FAT2	2196	bcgsc.ca	37	chr5	150917382	150917382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatccagcttgaattcatgCgccccagggccatgcagaga	10	7	12	12	1	1	2	1	1	0	1	2	4	2	3	4	2	3	2	4	2	1	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:150917382C>T	ENST00000261800.5	-	11	9177	c.9165G>A	c.(9163-9165)gcG>gcA	p.A3055A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3055	Cadherin 27. {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)	p.A3055A(1)		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)			TGAATTCATGCGCCCCAGGGC	0.458																																					p.A3055A													FAT2,brain,atypical_teratoid-rhabdoid_tumour,0,1	FAT2	465	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G9165A												120	112	115					5																	150917382		2203	4300	6503	SO:0001819	synonymous_variant	2196	exon11			TTCATGCGCCCCA	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.9165G>A	5.37:g.150917382C>T			198	0	0		151	0.04	6	NM_001447	1	0	0	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																					0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252434.1		NM_001447		T	150917382	C	T	150917382	2	4	33	1	0	0	0	0	0	0	0	1	5703	755	27	1		1	FAT2	5	150917382	Silent	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10	10363388	150917382	29997878	23	2311											
GEMIN5	25929	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr5	154268931	154268931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgatttgcctcggtaagccTtttggttaactcaggcagag	8	13	11	9	1	1	2	1	1	0	1	2	2	1	2	2	3	3	3	2	3	2	5			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:154268931T>C	ENST00000285873.7	-	27	4384	c.4309A>G	c.(4309-4311)Agg>Ggg	p.R1437G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1437					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)			TCGGTAAGCCTTTTGGTTAAC	0.358																																					p.R1437G													.	.			0			c.A4309G												111	107	109					5																	154268931		2203	4300	6503	SO:0001583	missense	25929	exon27			TAAGCCTTTTGGT	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.4309A>G	5.37:g.154268931T>C	ENSP00000285873:p.Arg1437Gly		141	0	0		99	0.04	4	NM_015465	78	0	0	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.778363	0.70107	.	.	ENSG00000082516	ENST00000285873	T	0.73469	-0.75	5.91	3.56	0.40772	.	0.063874	0.64402	D	0.000004	T	0.73393	0.3581	M	0.65975	2.015	0.35691	D	0.81484	D;D	0.54601	0.967;0.967	P;P	0.45310	0.476;0.476	T	0.81212	-0.1035	10	0.72032	D	0.01	-20.7776	11.1405	0.48400	0.0:0.0:0.4983:0.5017	.	1436;1437	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	G	1437	ENSP00000285873:R1437G	ENSP00000285873:R1437G	R	-	1	2	GEMIN5	154249124	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	2.427000	0.44740	1.014000	0.39417	0.528000	0.53228	AGG			0.358	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252507.1				C	154268931	T	C	154268931	3	2	33	1	0	0	0	0	1	0	0	0	6345	1608	56	4	225	4	GEMIN5	5	154268931	Missense_Mutation	SNP	T	TCGA-2G-AAGM-01A-11D-A42Y-10	3351549	154268931	26646329	24	2312											
CPEB4	80315	broad.mit.edu	37	chr5	173383109	173383109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggaaggcggtgaccGccctcggcatatttcattcc	8	9	13	11	3	1	2	1	2	0	0	3	3	2	3	3	5	0	1	3	5	3	3			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:173383109G>A	ENST00000265085.5	+	10	3613	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	CPEB4_ENST00000522336.1_Missense_Mutation_p.R330H|CPEB4_ENST00000517880.1_Missense_Mutation_p.R313H|CPEB4_ENST00000520867.1_Missense_Mutation_p.R695H|CPEB4_ENST00000334035.5_Missense_Mutation_p.R703H|CPEB4_ENST00000519467.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	720					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)			GGCGGTGACCGCCCTCGGCAT	0.502																																					p.R720H													.	CPEB4	54		0			c.G2159A												83	79	80					5																	173383109		2203	4300	6503	SO:0001583	missense	80315	exon10			GTGACCGCCCTCG	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.2159G>A	5.37:g.173383109G>A	ENSP00000265085:p.Arg720His		131	0	0		90	0.03	3	NM_030627	3	0	0	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311475	0.81358	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000522336;ENST00000517880	T;T;T	0.54479	0.57;0.71;0.61	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.991;0.998	T	0.72663	-0.4225	10	0.87932	D	0	-13.1766	19.8148	0.96562	0.0:0.0:1.0:0.0	.	695;703;330;720	B7ZLQ8;Q17RY0-2;E5RFP2;Q17RY0	.;.;.;CPEB4_HUMAN	H	720;695;703;330;313	ENSP00000265085:R720H;ENSP00000429092:R695H;ENSP00000334533:R703H	ENSP00000265085:R720H	R	+	2	0	CPEB4	173315715	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.809000	0.99208	2.689000	0.91719	0.655000	0.94253	CGC			0.502	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252964.2		NM_030627		A	173383109	G	A	173383109	3	1	33	1	0	0	0	0	1	0	0	0	3805	1087	38	1	2197	1	CPEB4	5	173383109	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	19114178	173383109	7532151	25	2313											
PRDM13	59336	broad.mit.edu	37	chr6	100061625	100061627	+	In_Frame_Del	DEL	CCG	CCG	-																															agtgcctgctcgctggggacCcgccgccgccgccgccgcct																								rs370363311		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	CCG	CCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr6:100061625_100061627delCCG	ENST00000369215.4	+	4	1419_1421	c.1114_1116delCCG	c.(1114-1116)ccgdel	p.P378del		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	378	Poly-Pro.				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)		CGCTGGGGACccgccgccgccgc	0.759																																					p.372_372del													.	PRDM13	65		0			c.1114_1116del									6,73,279		3,0,0,35,3,138						1.4	0.8		dbSNP_132	1	35,181,1058		15,0,5,82,17,518	no	codingComplex	PRDM13	NM_021620.3		18,0,5,117,20,656	A1A1,A1A2,A1R,A2A2,A2R,RR		16.9545,22.067,18.076				41,254,1337				SO:0001651	inframe_deletion	59336	exon4			GGGGACCCGCCGC	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.1114_1116delCCG	6.37:g.100061634_100061636delCCG	ENSP00000358217:p.Pro378del		9	0	0		6	0.67	4	NM_021620	0		0	Q5TGC1|Q5TGC2	In_Frame_Del	DEL	ENST00000369215.4	37	CCDS43487.1																																																																																					0.759	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041619.2				-	100061627	CCG	-	100061625	7	5	33	1	0	1	0	1	0	0	0	0	12474	623	22	0	1128	0	PRDM13	6	100061625	In_Frame_Del	DEL	CCG	TCGA-2G-AAGM-01A-11D-A42Y-10		100061625	71053442	26	2314											
HBS1L	10767	mdanderson.org	37	chr6	135318078	135318078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttcccagcatcaacatGacctaaagaaaattgattca	16	11	4	10	0	2	3	2	2	0	1	3	3	3	3	2	0	2	1	2	0	5	5			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr6:135318078G>T	ENST00000367837.5	-	7	1008	c.802C>A	c.(802-804)Cat>Aat	p.H268N	HBS1L_ENST00000367824.4_Missense_Mutation_p.H104N|HBS1L_ENST00000415177.2_Missense_Mutation_p.H203N|HBS1L_ENST00000445176.2_5'UTR|HBS1L_ENST00000367826.2_Missense_Mutation_p.H226N|HBS1L_ENST00000527578.1_Missense_Mutation_p.H104N	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	268	G1. {ECO:0000255|PROSITE- ProRule:PRU01059}.|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)		GCATCAACATGACCTAAAGAA	0.343																																					p.H268N													.	.			0			c.C802A												123	125	124					6																	135318078		2203	4300	6503	SO:0001583	missense	10767	exon7			CAACATGACCTAA	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.802C>A	6.37:g.135318078G>T	ENSP00000356811:p.His268Asn		80	0	0		45	0.07	3	NM_006620	92	0	0	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787985	0.70337	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000529641;ENST00000527507	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	5.71	5.71	0.89125	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	M	0.92649	3.33	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.93061	0.6474	10	0.87932	D	0	-9.5594	19.8712	0.96852	0.0:0.0:1.0:0.0	.	226;268	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	N	268;104;203;226;104;138;104;104	ENSP00000356811:H268N;ENSP00000436256:H104N;ENSP00000389826:H203N;ENSP00000356800:H226N;ENSP00000356798:H104N;ENSP00000434533:H138N;ENSP00000436620:H104N;ENSP00000432092:H104N	ENSP00000356798:H104N	H	-	1	0	HBS1L	135359771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.713000	0.92767	0.655000	0.94253	CAT			0.343	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042339.2				T	135318078	G	T	135318078	3	4	33	1	0	0	0	0	1	0	0	0	7002	1290	45	3	1300	3	HBS1L	6	135318078	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	35256453	135318078	35796989	27	2315											
PMS2	5395	broad.mit.edu	37	chr7	6017231	6017231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacttaccgacttccggcaGgctctggaggcaaacatctg	9	10	10	12	2	2	0	0	0	2	0	3	2	3	1	2	4	3	3	2	4	3	3			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:6017231G>T	ENST00000265849.7	-	14	2538	c.2433C>A	c.(2431-2433)gcC>gcA	p.A811A	PMS2_ENST00000382321.4_Silent_p.A410A|PMS2_ENST00000441476.2_Silent_p.A705A	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	811					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACTTCCGGCAGGCTCTGGAGG	0.572			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.A811A			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88		0			c.C2433A												5	5	5					7																	6017231		1811	3525	5336	SO:0001819	synonymous_variant	5395	exon14	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	CCGGCAGGCTCTG		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2433C>A	7.37:g.6017231G>T			365	0	0		296	0.28	84	NM_000535	14	0.36	5	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																					0.572	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207353.3		NM_000535		T	6017231	G	T	6017231	2	4	33	1	0	0	0	0	0	0	0	1	12160	987	35	3		3	PMS2	7	6017231	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10		6017231	153121432	28	2316											
TNS3	64759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	47343091	47343091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccggagaactcagcgcTgaggggacttccggtgggcc	7	6	17	11	3	1	2	1	1	0	1	2	4	2	3	3	6	3	2	3	6	2	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:47343091T>A	ENST00000398879.1	-	22	3280	c.2914A>T	c.(2914-2916)Agc>Tgc	p.S972C	TNS3_ENST00000311160.9_Missense_Mutation_p.S972C|TNS3_ENST00000355730.3_Missense_Mutation_p.S732C			Q68CZ2	TENS3_HUMAN	tensin 3	972					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AACTCAGCGCTGAGGGGACTT	0.637																																					p.S972C													.	.			0			c.A2914T												21	26	24					7																	47343091		2020	4178	6198	SO:0001583	missense	64759	exon22			CAGCGCTGAGGGG	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2914A>T	7.37:g.47343091T>A	ENSP00000381854:p.Ser972Cys		42	0	0		37	0.14	5	NM_022748	83	0.19	16	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	11.39	1.623366	0.28889	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94376	-2.98;-2.98;-3.41;-3.11	5.34	-1.27	0.09347	.	0.861084	0.09864	N	0.745866	D	0.85548	0.5722	N	0.19112	0.55	0.09310	N	1	P	0.38642	0.641	B	0.34824	0.19	T	0.74535	-0.3633	10	0.66056	D	0.02	-3.891	9.4165	0.38525	0.0:0.4841:0.0:0.5159	.	972	Q68CZ2	TENS3_HUMAN	C	972;1082;972;732;428;1075	ENSP00000312143:S972C;ENSP00000381854:S972C;ENSP00000347968:S732C;ENSP00000414358:S1075C	ENSP00000312143:S972C	S	-	1	0	TNS3	47309616	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.016000	0.12613	-0.641000	0.05487	-0.297000	0.09499	AGC			0.637	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157253.1		NM_022748		A	47343091	T	A	47343091	3	1	33	1	0	0	0	0	1	0	0	0	16367	1580	55	5	1463	5	TNS3	7	47343091	Missense_Mutation	SNP	T	TCGA-2G-AAGM-01A-11D-A42Y-10	41325860	47343091	111795572	29	2317											
TPST1	8460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	65705578	65705578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccactgtgagaactggcctgGacctcaaagccaacaaaacc	14	5	8	14	0	1	1	1	1	0	1	1	3	1	2	5	2	4	0	5	2	5	0			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:65705578G>T	ENST00000304842.5	+	2	591	c.166G>T	c.(166-168)Gac>Tac	p.D56Y	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	56					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AACTGGCCTGGACCTCAAAGC	0.502																																					p.D56Y													.	.			0			c.G166T												109	88	95					7																	65705578		2203	4300	6503	SO:0001583	missense	8460	exon2			GGCCTGGACCTCA	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.166G>T	7.37:g.65705578G>T	ENSP00000302413:p.Asp56Tyr		133	0	0		140	0.14	20	NM_003596	113	0.26	29	A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768343	0.31320	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.93	3.82	0.43975	.	0.346082	0.34603	N	0.003830	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	B;B	0.26363	0.147;0.078	B;B	0.34452	0.183;0.126	T	0.33548	-0.9864	9	0.51188	T	0.08	-13.8223	12.9499	0.58394	0.1533:0.0:0.8467:0.0	.	56;56	F5H7U7;O60507	.;TPST1_HUMAN	Y	56	.	ENSP00000302413:D56Y	D	+	1	0	TPST1	65343013	0.017000	0.18338	0.086000	0.20670	0.944000	0.59088	1.015000	0.29963	1.513000	0.48852	0.585000	0.79938	GAC			0.502	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251705.2		NM_003596		T	65705578	G	T	65705578	3	4	33	1	0	0	0	0	1	0	0	0	16451	1174	41	3	168	3	TPST1	7	65705578	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	18362487	65705578	93433085	30	2318											
AUTS2	26053	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	70252379	70252379	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagagatagagatgtagaTaaacgagactcatctgttag	16	9	11	5	1	2	4	1	0	1	4	2	8	2	4	0	0	1	2	0	0	5	4			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:70252379T>G	ENST00000342771.4	+	18	2814	c.2493T>G	c.(2491-2493)gaT>gaG	p.D831E	AUTS2_ENST00000406775.2_Missense_Mutation_p.D807E	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	831										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGATGTAGATAAACGAGACT	0.572																																					p.D831E													.	AUTS2	173		0			c.T2493G												35	36	36					7																	70252379		2203	4300	6503	SO:0001583	missense	26053	exon18			TGTAGATAAACGA	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2493T>G	7.37:g.70252379T>G	ENSP00000344087:p.Asp831Glu		177	0.011299435	2		106	0.18	19	NM_015570	54	0.31	17	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451884	0.43531	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000418686	T;T	0.25250	1.83;1.81	4.88	4.88	0.63580	.	0.052873	0.64402	D	0.000001	T	0.22666	0.0547	N	0.21194	0.64	0.80722	D	1	D;P;P	0.61697	0.99;0.94;0.94	P;P;P	0.50708	0.648;0.647;0.647	T	0.01914	-1.1248	9	.	.	.	-15.2372	9.0979	0.36651	0.0:0.0823:0.0:0.9177	.	283;807;831	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	E	807;831;111	ENSP00000385263:D807E;ENSP00000344087:D831E	.	D	+	3	2	AUTS2	69890315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.502000	0.53332	1.827000	0.53221	0.533000	0.62120	GAT			0.572	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251971.2				G	70252379	T	G	70252379	3	3	33	1	0	0	0	0	1	0	0	0	1225	1403	49	4	2708	4	AUTS2	7	70252379	Missense_Mutation	SNP	T	TCGA-2G-AAGM-01A-11D-A42Y-10	4546801	70252379	88886284	31	2319											
AKAP9	10142	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	91691612	91691612	+	Frame_Shift_Del	DEL	A	A	-																															cattgatggctatgcagatgAaaaaactctttttgaaaggc																										TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:91691612delA	ENST00000359028.2	+	25	6050	c.5825delA	c.(5824-5826)gaafs	p.E1942fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E1942fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E1930fs|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1942	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)			TATGCAGATGAAAAAACTCTT	0.313			T	BRAF	papillary thyroid																																p.E1930fs				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788		0			c.5788delG												84	94	91					7																	91691612		2203	4300	6503	SO:0001589	frameshift_variant	10142	exon24			CAGATGAAAAAAC	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.5825delA	7.37:g.91691612delA	ENSP00000351922:p.Glu1942fs		295	0	0		185	0.16	29	NM_147185	11	0	0	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37																																																																																						0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding				NM_005751		-	91691612	A	-	91691612	7	5	33	1	0	1	0	1	0	0	0	0	459	246	9	0	5883	0	AKAP9	7	91691612	Frame_Shift_Del	DEL	A	TCGA-2G-AAGM-01A-11D-A42Y-10	21439233	91691612	67447051	32	2320											
SMURF1	57154	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	98628279	98628280	+	Frame_Shift_Del	DEL	AT	AT	-																															tagagcttctcataggactcAtatggtggaatgtcgatccg																										TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	AT	AT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:98628279_98628280delAT	ENST00000361125.1	-	19	2520_2521	c.2201_2202delAT	c.(2200-2202)tatfs	p.Y734fs	AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Frame_Shift_Del_p.Y708fs|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	734	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CATAGGACTCATATGGTGGAAT	0.53																																					p.734_735del													.	SMURF1	58		0			c.2202_2203del																																									SO:0001589	frameshift_variant	57154	exon19			GGACTCATATGGT	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.2201_2202delAT	7.37:g.98628281_98628282delAT	ENSP00000354621:p.Tyr734fs		96	0	0		47	0.28	13	NM_020429	46	0	0	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Frame_Shift_Del	DEL	ENST00000361125.1	37	CCDS34690.1																																																																																					0.53	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000335001.2		NM_020429		-	98628280	AT	-	98628279	7	5	33	1	0	1	0	1	0	0	0	0	14842	224	8	0	75	0	SMURF1	7	98628279	Frame_Shift_Del	DEL	AT	TCGA-2G-AAGM-01A-11D-A42Y-10	6936667	98628279	60510384	33	2321											
TRPV6	55503	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142570126	142570126	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccccgcatatcactcaccGcaggaaccagcggtctccca	10	5	7	19	3	3	0	2	0	1	0	4	1	3	1	5	2	2	2	5	2	2	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:142570126G>A	ENST00000359396.3	-	14	2139	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	632					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCACTCACCGCAGGAACCAG	0.667																																					p.R632W													TRPV6,NS,carcinoma,0,1	TRPV6	108	1	0			c.C1894T												61	56	57					7																	142570126		2203	4300	6503	SO:0001630	splice_region_variant	55503	exon14			CTCACCGCAGGAA	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1895+1C>T	7.37:g.142570126G>A			77	0	0		27	0.15	4	NM_018646	9	0	0	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Splice_Site	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724325	0.68959	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.80480	-1.38	5.2	2.04	0.26737	.	0.054858	0.64402	D	0.000001	D	0.87696	0.6242	M	0.83603	2.65	0.49213	D	0.999763	D	0.89917	1.0	D	0.87578	0.998	D	0.86282	0.1668	10	0.87932	D	0	-32.6818	7.1358	0.25527	0.0873:0.0:0.3397:0.573	.	632	Q9H1D0	TRPV6_HUMAN	W	632;464	ENSP00000352358:R632W	ENSP00000310825:R464W	R	-	1	2	TRPV6	142280248	0.999000	0.42202	1.000000	0.80357	0.843000	0.47879	0.699000	0.25586	0.709000	0.31976	-0.182000	0.12963	CGG			0.667	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347662.1		NM_014274	Missense_Mutation	A	142570126	G	A	142570126	5	1	33	1	0	0	0	0	0	0	1	0	16624	1101	38	1	291	1	TRPV6	7	142570126	Splice_Site	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	43941847	142570126	16568537	34	2322											
ZNF398	57541	mdanderson.org	37	chr7	148851348	148851348	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacgggctgctgcagaggcgGctggagaacttggagaacct	9	7	16	9	2	0	3	0	0	0	3	0	5	0	3	1	5	5	4	1	5	3	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:148851348G>T	ENST00000475153.1	+	2	603	c.336G>T	c.(334-336)cgG>cgT	p.R112R	ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000540950.1_Silent_p.R117R|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	112					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGCAGAGGCGGCTGGAGAACT	0.567																																					p.R112R													.	.			0			c.G336T												55	60	58					7																	148851348		2203	4300	6503	SO:0001819	synonymous_variant	57541	exon2			GAGGCGGCTGGAG	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.336G>T	7.37:g.148851348G>T			57	0	0		48	0.06	3	NM_170686	19	0	0	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	CCDS5894.1																																																																																					0.567	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352722.2				T	148851348	G	T	148851348	2	4	33	1	0	0	0	0	0	0	0	1	17908	1190	42	2		2	ZNF398	7	148851348	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	6281222	148851348	10287315	35	2323											
RBM33	155435	mdanderson.org	37	chr7	155473369	155473369	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacactaacgaccaatctGgagaacaggaatctgagtat	17	7	8	9	1	2	2	0	1	2	1	2	5	2	3	1	2	3	1	1	2	6	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:155473369G>T	ENST00000401878.3	+	5	532	c.334G>T	c.(334-336)Gga>Tga	p.G112*	RBM33_ENST00000287912.3_Nonsense_Mutation_p.G112*|RBM33_ENST00000392759.3_Nonsense_Mutation_p.G112*	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	112							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGACCAATCTGGAGAACAGGA	0.403																																					p.G112X													.	.			0			c.G334T												94	88	90					7																	155473369		1916	4139	6055	SO:0001587	stop_gained	155435	exon5			CAATCTGGAGAAC	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.334G>T	7.37:g.155473369G>T	ENSP00000384160:p.Gly112*		65	0	0		33	0.09	3	NM_053043	48	0	0	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Nonsense_Mutation	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	39	7.413684	0.98269	.	.	ENSG00000184863	ENST00000287912;ENST00000401878;ENST00000392759;ENST00000440108	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	9.6072	0.39641	0.0753:0.1431:0.7815:0.0	.	.	.	.	X	112;112;112;3	.	ENSP00000287912:G112X	G	+	1	0	RBM33	155166130	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.815000	0.38981	2.686000	0.91538	0.650000	0.86243	GGA			0.403	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317225.3		NM_001008408		T	155473369	G	T	155473369	4	4	33	1	0	0	0	0	0	1	0	0	13153	1349	47	3	352	3	RBM33	7	155473369	Nonsense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	6622021	155473369	3665294	36	2324											
FAM83H	286077	mdanderson.org	37	chr8	144808833	144808833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagggtgaggctgcccctgCgctccggcacggggggcacc	5	5	17	14	3	0	1	0	1	0	0	1	1	1	1	4	6	2	4	4	6	1	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr8:144808833C>T	ENST00000388913.3	-	5	2923	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	933					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)			GCTGCCCCTGCGCTCCGGCAC	0.746																																					p.R933H													FAM83H,NS,carcinoma,-1,1	FAM83H	-1	1	0			c.G2798A												5	6	6					8																	144808833		1708	3739	5447	SO:0001583	missense	286077	exon5			CCCCTGCGCTCCG	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.2798G>A	8.37:g.144808833C>T	ENSP00000373565:p.Arg933His		21	0	0		16	0.13	2	NM_198488	56	0	0	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	14.89	2.670513	0.47781	.	.	ENSG00000180921	ENST00000388913	T	0.17213	2.29	4.95	3.15	0.36227	.	148.889000	0.00166	N	0.000000	T	0.15392	0.0371	L	0.29908	0.895	0.19775	N	0.999956	B	0.12630	0.006	B	0.04013	0.001	T	0.21245	-1.0251	10	0.44086	T	0.13	.	6.1236	0.20167	0.0:0.6407:0.1557:0.2036	.	933	Q6ZRV2	FA83H_HUMAN	H	933	ENSP00000373565:R933H	ENSP00000373565:R933H	R	-	2	0	FAM83H	144880821	0.794000	0.28838	0.997000	0.53966	0.135000	0.20990	1.868000	0.39509	0.530000	0.28619	0.500000	0.49745	CGC			0.746	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257632.2		NM_198488		T	144808833	C	T	144808833	3	4	33	1	0	0	0	0	1	0	0	0	5653	768	27	1	745	1	FAM83H	8	144808833	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10		144808833	1555189	37	2325											
GOLGA2	2801	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr9	131022893	131022893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccccccagagctcggccgCccgctccagctccagcagcc	5	4	9	23	3	0	1	0	0	0	1	4	1	3	1	8	1	4	4	8	1	0	0			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr9:131022893C>T	ENST00000421699.2	-	17	1540	c.1528G>A	c.(1528-1530)Gcg>Acg	p.A510T	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.A498T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	510					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						AGCTCGGCCGCCCGCTCCAGC	0.662																																					p.A510T													.	GOLGA2	69		0			c.G1528A												57	69	65					9																	131022893		2203	4300	6503	SO:0001583	missense	2801	exon17			CGGCCGCCCGCTC	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.1528G>A	9.37:g.131022893C>T	ENSP00000416097:p.Ala510Thr		26	0	0		20	0.25	5	NM_004486	67	0.12	8	Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	8.960	0.970266	0.18659	.	.	ENSG00000167110	ENST00000421699	T	0.22945	1.93	5.31	3.35	0.38373	.	0.995107	0.08160	N	0.988641	T	0.15696	0.0378	N	0.26042	0.785	0.09310	N	1	B	0.17667	0.023	B	0.15484	0.013	T	0.38672	-0.9650	10	0.15952	T	0.53	.	3.723	0.08463	0.0:0.4675:0.1864:0.3462	.	510	Q08379	GOGA2_HUMAN	T	510	ENSP00000416097:A510T	ENSP00000416097:A510T	A	-	1	0	GOLGA2	130062714	0.002000	0.14202	0.001000	0.08648	0.784000	0.44337	1.512000	0.35812	0.514000	0.28300	0.313000	0.20887	GCG			0.662	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054358.2		NM_004486		T	131022893	C	T	131022893	3	4	33	1	0	0	0	0	1	0	0	0	6566	739	26	2	1520	2	GOLGA2	9	131022893	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10		131022893	10190538	38	2326											
ARHGAP21	57584	mdanderson.org	37	chr10	24908615	24908615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatggaggtttttcccttaGgatgacagcttctttattat	9	17	9	6	0	1	2	0	1	1	1	2	4	2	4	1	3	1	2	1	3	3	7			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr10:24908615G>T	ENST00000396432.2	-	9	2695	c.2209C>A	c.(2209-2211)Cta>Ata	p.L737I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.L524I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	736					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTTCCCTTAGGATGACAGCT	0.428																																					p.L737I													.	.			0			c.C2209A												95	89	91					10																	24908615		2203	4300	6503	SO:0001583	missense	57584	exon9			CCCTTAGGATGAC	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2209C>A	10.37:g.24908615G>T	ENSP00000379709:p.Leu737Ile		101	0	0		92	0.04	4	NM_020824	30	0	0	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795709	0.50208	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.1	3.23	0.37069	.	0.074437	0.56097	D	0.000038	T	0.58366	0.2117	M	0.71581	2.175	0.35333	D	0.785831	D;P	0.54047	0.964;0.939	P;P	0.54100	0.742;0.556	T	0.68405	-0.5417	10	0.72032	D	0.01	.	5.2715	0.15627	0.2291:0.0:0.6091:0.1618	.	727;736	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	737;524;727;737;572	ENSP00000379709:L737I;ENSP00000365604:L524I;ENSP00000365592:L727I;ENSP00000405018:L737I	ENSP00000365604:L524I	L	-	1	2	ARHGAP21	24948621	1.000000	0.71417	0.716000	0.30569	0.970000	0.65996	2.011000	0.40922	1.267000	0.44247	0.655000	0.94253	CTA			0.428	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047229.4		NM_020824		T	24908615	G	T	24908615	3	4	33	1	0	0	0	0	1	0	0	0	871	991	35	3	3739	3	ARHGAP21	10	24908615	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10		24908615	110626132	39	2327											
UBE2D1	7321	mdanderson.org	37	chr10	60121140	60121140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccacctgctcactgttcaGctggacctgtgggagatgac	8	10	11	12	0	2	2	2	1	0	1	3	4	3	3	3	2	2	3	3	2	0	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr10:60121140G>T	ENST00000373910.4	+	2	294	c.67G>T	c.(67-69)Gct>Tct	p.A23S		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCACTGTTCAGCTGGACCTGT	0.398																																					p.A23S													.	.			0			c.G67T												151	142	145					10																	60121140		2203	4300	6503	SO:0001583	missense	7321	exon2			TGTTCAGCTGGAC	BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"Ubiquitin-conjugating enzymes E2"	12474	protein-coding gene	gene with protein product		602961	"stimulator of Fe transport", "ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.67G>T	10.37:g.60121140G>T	ENSP00000363019:p.Ala23Ser		133	0	0		116	0.04	5	NM_003338	68	0	0	A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	37	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432840	0.96150	.	.	ENSG00000072401	ENST00000373910	T	0.56103	0.48	6.07	6.07	0.98685	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.80884	0.4709	H	0.94734	3.575	0.80722	D	1	D	0.57257	0.979	D	0.70227	0.968	D	0.85121	0.0969	10	0.87932	D	0	.	18.1531	0.89682	0.0:0.0:1.0:0.0	.	23	P51668	UB2D1_HUMAN	S	23	ENSP00000363019:A23S	ENSP00000363019:A23S	A	+	1	0	UBE2D1	59791146	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.761000	0.98940	2.885000	0.99019	0.655000	0.94253	GCT			0.398	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048143.2		NM_003338		T	60121140	G	T	60121140	3	4	33	1	0	0	0	0	1	0	0	0	16872	971	34	2	73	2	UBE2D1	10	60121140	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	35212525	60121140	75413607	40	2328											
NAT10	55226	broad.mit.edu	37	chr11	34149080	34149080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgatgaagctgccgccaTccccctccccttggtgaaga	8	9	10	14	1	0	4	0	3	0	1	2	5	2	4	6	1	2	1	6	1	2	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	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																																					p.I393T													.	NAT10	78		0			c.T1178C												177	161	167					11																	34149080		2202	4298	6500	SO:0001583	missense	55226	exon12			CCGCCATCCCCCT	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		212	0	0		155	0.03	4	NM_024662	88	0	0	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	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		C	34149080	T	C	34149080	3	2	33	1	0	0	0	0	1	0	0	0	10190	1435	50	4	1220	4	NAT10	11	34149080	Missense_Mutation	SNP	T	TCGA-2G-AAGM-01A-11D-A42Y-10		34149080	100857436	41	2329											
PLCB3	5331	mdanderson.org	37	chr11	64032973	64032973	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggctgcggccaggtgccCtgtgagtgtctgggccgcct	2	8	17	14	3	1	1	0	1	1	0	1	1	1	1	5	4	2	1	5	4	0	0			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:64032973C>A	ENST00000540288.1	+	25	3137	c.3034C>A	c.(3034-3036)Cta>Ata	p.L1012I	PLCB3_ENST00000325234.5_Splice_Site_p.L945I|PLCB3_ENST00000279230.6_Splice_Site_p.L1012I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1012					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						GCCAGGTGCCCTGTGAGTGTC	0.647																																					p.L1012I													.	.			0			c.C3034A												16	13	14					11																	64032973		2167	4239	6406	SO:0001630	splice_region_variant	5331	exon25			GGTGCCCTGTGAG	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.3035+1C>A	11.37:g.64032973C>A			18	0	0		38	0.08	3	NM_000932	86	0	0	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368766	0.42003	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.13901	2.55;2.55;2.55	4.9	4.9	0.64082	.	2.237860	0.02054	N	0.050254	T	0.10852	0.0265	N	0.08118	0	0.39295	D	0.964803	B;B	0.27416	0.178;0.044	B;B	0.21708	0.036;0.028	T	0.10019	-1.0648	10	0.37606	T	0.19	.	13.9115	0.63869	0.0:1.0:0.0:0.0	.	945;1012	G5E960;Q01970	.;PLCB3_HUMAN	I	1012;1012;945	ENSP00000279230:L1012I;ENSP00000443631:L1012I;ENSP00000324660:L945I	ENSP00000279230:L1012I	L	+	1	2	PLCB3	63789549	0.507000	0.26146	0.986000	0.45419	0.534000	0.34807	1.518000	0.35877	2.445000	0.82738	0.561000	0.74099	CTA			0.647	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396405.1			Missense_Mutation	A	64032973	C	A	64032973	5	1	33	1	0	0	0	0	0	0	1	0	12046	695	24	3	3132	3	PLCB3	11	64032973	Splice_Site	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10	29883893	64032973	70973543	42	2330											
SNX32	254122	mdanderson.org	37	chr11	65617691	65617691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaattgggcgagggggAcagctctgtcactcgggaag	11	6	16	8	2	2	1	1	0	1	1	3	4	2	3	0	4	1	1	0	4	2	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:65617691A>G	ENST00000308342.6	+	4	748	c.323A>G	c.(322-324)gAc>gGc	p.D108G		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	108	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGCGAGGGGGACAGCTCTGTC	0.602																																					p.D108G													.	.			0			c.A323G												69	72	71					11																	65617691		2201	4297	6498	SO:0001583	missense	254122	exon4			AGGGGGACAGCTC	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.323A>G	11.37:g.65617691A>G	ENSP00000310620:p.Asp108Gly		86	0	0		59	0.07	4	NM_152760	0		0	Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	A	15.70	2.909710	0.52439	.	.	ENSG00000172803	ENST00000308342	T	0.33654	1.4	4.17	3.01	0.34805	Phox homologous domain (4);	0.598969	0.16016	N	0.233526	T	0.26810	0.0656	L	0.31845	0.965	0.32000	N	0.603534	B	0.23442	0.085	B	0.22152	0.038	T	0.27123	-1.0083	10	0.87932	D	0	-24.0389	8.0503	0.30575	0.8184:0.0:0.0:0.1816	.	108	Q86XE0	SNX32_HUMAN	G	108	ENSP00000310620:D108G	ENSP00000310620:D108G	D	+	2	0	SNX32	65374267	1.000000	0.71417	0.207000	0.23584	0.967000	0.64934	5.535000	0.67173	0.628000	0.30357	0.459000	0.35465	GAC			0.602	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250295.3		NM_152760		G	65617691	A	G	65617691	3	3	33	1	0	0	0	0	1	0	0	0	14925	275	10	4	337	4	SNX32	11	65617691	Missense_Mutation	SNP	A	TCGA-2G-AAGM-01A-11D-A42Y-10	1584718	65617691	69388825	43	2331											
TCIRG1	10312	mdanderson.org	37	chr11	67818021	67818021	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccgggaggtgggcgtGgcggctgtggtgctggtccc	1	8	22	10	3	0	0	0	0	0	0	1	1	1	1	2	8	1	2	2	8	0	0			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:67818021G>T	ENST00000265686.3	+	19	2412	c.2304G>T	c.(2302-2304)gtG>gtT	p.V768V	TCIRG1_ENST00000530802.1_Intron|CHKA_ENST00000533728.1_5'Flank|TCIRG1_ENST00000532635.1_Silent_p.V552V|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	768					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGGTGGGCGTGGCGGCTGTGG	0.657																																					p.V768V													.	.			0			c.G2304T												95	110	105					11																	67818021		2200	4294	6494	SO:0001819	synonymous_variant	10312	exon19			GGGCGTGGCGGCT	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2304G>T	11.37:g.67818021G>T			75	0	0		50	0.06	3	NM_006019	35	0	0	O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	CCDS8177.1																																																																																					0.657	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394305.1		NM_006019		T	67818021	G	T	67818021	2	4	33	1	0	0	0	0	0	0	0	1	15726	1335	47	3		3	TCIRG1	11	67818021	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	2200330	67818021	67188495	44	2332											
PAK1	5058	mdanderson.org	37	chr11	77085377	77085377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtaaataaagacttaccaagGcattagaagaattgtaatcc	18	10	7	6	0	0	3	0	0	0	3	1	3	1	3	2	1	1	3	2	1	10	6			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:77085377G>T	ENST00000356341.3	-	5	1004	c.473C>A	c.(472-474)gCc>gAc	p.A158D	PAK1_ENST00000278568.4_Missense_Mutation_p.A158D|PAK1_ENST00000530617.1_Missense_Mutation_p.A158D|PAK1_ENST00000528203.1_Missense_Mutation_p.A60D	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	158	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					ACTTACCAAGGCATTAGAAGA	0.413																																					p.A158D													.	.			0			c.C473A												121	114	116					11																	77085377		2200	4292	6492	SO:0001583	missense	5058	exon5			ACCAAGGCATTAG	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.473C>A	11.37:g.77085377G>T	ENSP00000348696:p.Ala158Asp		73	0	0		52	0.06	3	NM_001128620	91	0	0	O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924877	0.34002	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	T;T;T;T	0.71341	-0.53;-0.56;-0.56;-0.53	5.45	5.45	0.79879	.	0.273140	0.41823	D	0.000820	T	0.63283	0.2498	L	0.43152	1.355	0.35672	D	0.813386	B;B;B;B	0.29805	0.023;0.044;0.013;0.257	B;B;B;B	0.25614	0.014;0.017;0.017;0.062	T	0.66528	-0.5901	10	0.25106	T	0.35	.	17.48	0.87670	0.0:0.0:1.0:0.0	.	60;158;158;158	E9PM17;B3KNX7;Q13153;Q13153-2	.;.;PAK1_HUMAN;.	D	158;158;158;60	ENSP00000348696:A158D;ENSP00000433423:A158D;ENSP00000278568:A158D;ENSP00000433211:A60D	ENSP00000278568:A158D	A	-	2	0	PAK1	76763025	0.998000	0.40836	1.000000	0.80357	0.743000	0.42351	4.259000	0.58828	2.535000	0.85469	0.563000	0.77884	GCC			0.413	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382083.2		NM_002576		T	77085377	G	T	77085377	3	4	33	1	0	0	0	0	1	0	0	0	11416	1203	42	2	1261	2	PAK1	11	77085377	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	9267356	77085377	57921139	45	2333											
GXYLT1	283464	hgsc.bcm.edu	37	chr12	42481670	42481671	+	Missense_Mutation	DNP	CA	CA	TG																															atattttgtaaatttttccaCagtatgtatgcactgttttt																								rs202200134|rs200973030		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	CA	CA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr12:42481670_42481671CA>TG	ENST00000398675.3	-	8	1472_1473	c.1240_1241TG>CA	c.(1240-1242)TGt>CAt	p.C414H	GXYLT1_ENST00000280876.6_Missense_Mutation_p.C383H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	414					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AATTTTTCCACAGTATGTATGC	0.312																																					p.C414H													Q8IXV1_HUMAN,NS,carcinoma,0,4	Q8IXV1_HUMAN	0	4	0			c.T1240C																																									SO:0001583	missense	283464	exon8			TTTCCACAGTATG	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1240_1241delinsTG	12.37:g.42481670_42481671delinsTG	ENSP00000381666:p.Cys414His		95	0.0105263158	1		74	0.05	4	NM_173601	54	0	0	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	DNP	ENST00000398675.3	37	CCDS41772.1																																																																																					0.312	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403778.1		XM_290597		TG	42481671	CA	TG	42481670	3	4	33	1	0	0	0	0	1	0	0	0	6918	478	17	3	85	3	GXYLT1	12	42481670	Missense_Mutation	DNP	CA	TCGA-2G-AAGM-01A-11D-A42Y-10		42481670	91370225	46	2334											
MYO16	23026	mdanderson.org	37	chr13	109445885	109445885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggatttgacctcactgcGccagatgaagcttcagagac	11	9	11	10	1	2	4	2	2	0	2	2	6	2	5	2	1	2	1	2	1	1	2	rs537057276	byFrequency	TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr13:109445885G>T	ENST00000357550.2	+	5	613	c.572G>T	c.(571-573)cGc>cTc	p.R191L	MYO16_ENST00000251041.5_Missense_Mutation_p.R191L|MYO16_ENST00000356711.2_Missense_Mutation_p.R191L	NM_001198950.1	NP_001185879.1			myosin XVI									p.R191H(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACCTCACTGCGCCAGATGAAG	0.443													G|||	2	0.000399361	0	0	5008	,	,		14540	0		0	False		,,,				2504	0.002				p.R213L													MYO16,rectum,carcinoma,0,1	MYO16	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.G638T												129	122	125					13																	109445885		2203	4300	6503	SO:0001583	missense	23026	exon6			CACTGCGCCAGAT		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.572G>T	13.37:g.109445885G>T	ENSP00000350160:p.Arg191Leu		91	0	0		55	0.05	3	NM_001198950	0		0		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478800	0.63849	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.52295	0.67;0.67;0.67	5.76	3.13	0.36017	Ankyrin repeat-containing domain (3);	0.173228	0.27447	U	0.019329	T	0.58452	0.2123	M	0.71581	2.175	0.80722	D	1	D;D	0.59767	0.984;0.986	P;P	0.57846	0.736;0.828	T	0.55730	-0.8095	9	.	.	.	.	9.1214	0.36788	0.2372:0.0:0.7628:0.0	.	191;191	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	191	ENSP00000349145:R191L;ENSP00000350160:R191L;ENSP00000251041:R191L	.	R	+	2	0	MYO16	108243886	0.996000	0.38824	0.993000	0.49108	0.761000	0.43186	1.317000	0.33631	0.373000	0.24621	-0.218000	0.12543	CGC			0.443	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045746.1		NM_015011		T	109445885	G	T	109445885	3	4	33	1	0	0	0	0	1	0	0	0	10080	1087	38	1	590	1	MYO16	13	109445885	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10		109445885	5723993	47	2335											
FOXA1	3169	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	38064138	38064138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcgtagtagctgttccagtCgctggtttcatgcccttcca	5	14	10	12	2	1	0	1	0	0	0	4	0	3	0	3	1	3	6	3	1	2	5			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr14:38064138C>G	ENST00000250448.2	-	1	101	c.40G>C	c.(40-42)Gac>Cac	p.D14H	FOXA1_ENST00000540786.1_Intron|FOXA1_ENST00000545425.2_5'Flank	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	14					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTGTTCCAGTCGCTGGTTTCA	0.677																																					p.D14H													.	.			0			c.G40C												109	81	90					14																	38064138		2203	4300	6503	SO:0001583	missense	3169	exon1			TCCAGTCGCTGGT	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.40G>C	14.37:g.38064138C>G	ENSP00000250448:p.Asp14His		106	0	0		79	0.1	8	NM_004496	70	0.1	7	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211291	0.39102	.	.	ENSG00000129514	ENST00000250448	D	0.93133	-3.17	3.7	3.7	0.42460	.	0.561676	0.17673	N	0.165906	D	0.94308	0.8171	L	0.55990	1.75	0.80722	D	1	D	0.65815	0.995	P	0.56042	0.79	D	0.94716	0.7896	10	0.87932	D	0	.	15.0489	0.71850	0.0:1.0:0.0:0.0	.	14	P55317	FOXA1_HUMAN	H	14	ENSP00000250448:D14H	ENSP00000250448:D14H	D	-	1	0	FOXA1	37133889	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.321000	0.79088	1.608000	0.50180	0.289000	0.19496	GAC			0.677	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276735.1				G	38064138	C	G	38064138	3	3	33	1	0	0	0	0	1	0	0	0	6002	884	31	5	1386	5	FOXA1	14	38064138	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10		38064138	69285402	48	2336											
HIF1A	3091	broad.mit.edu	37	chr14	62193436	62193436	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcattaggccttgtgaaaaAgggtaaagaacaaaacacac	18	8	8	7	0	1	2	1	1	0	1	1	2	1	2	1	2	2	1	1	2	8	4			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr14:62193436A>G	ENST00000337138.4	+	5	735	c.470A>G	c.(469-471)aAg>aGg	p.K157R	HIF1A_ENST00000539097.1_Missense_Mutation_p.K181R|HIF1A_ENST00000323441.6_Missense_Mutation_p.K157R|HIF1A_ENST00000394997.1_Missense_Mutation_p.K158R|HIF1A_ENST00000557206.1_3'UTR|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.K98R	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	157	Interaction with TSGA10. {ECO:0000250}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)	CTTGTGAAAAAGGGTAAAGAA	0.348																																					p.K181R													.	HIF1A	120		0			c.A542G												77	74	75					14																	62193436		2203	4300	6503	SO:0001583	missense	3091	exon5			TGAAAAAGGGTAA	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.470A>G	14.37:g.62193436A>G	ENSP00000338018:p.Lys157Arg		292	0	0		288	0.01	4	NM_001243084	305	0	0	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	A	32	5.154229	0.94645	.	.	ENSG00000100644	ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.92	5.92	0.95590	PAS (1);	0.216882	0.46758	D	0.000266	T	0.42765	0.1217	M	0.84846	2.72	0.80722	D	1	P;P;P	0.50369	0.934;0.934;0.934	P;P;P	0.55965	0.788;0.788;0.788	T	0.46428	-0.9192	10	0.87932	D	0	.	16.3636	0.83296	1.0:0.0:0.0:0.0	.	158;157;157	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	R	98;157;158;157;98;181	ENSP00000338018:K157R;ENSP00000378446:K158R;ENSP00000323326:K157R;ENSP00000451696:K98R;ENSP00000437955:K181R	ENSP00000323326:K157R	K	+	2	0	HIF1A	61263189	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.109000	0.94291	2.267000	0.75376	0.528000	0.53228	AAG			0.348	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000276977.2		NM_001530		G	62193436	A	G	62193436	3	3	33	1	0	0	0	0	1	0	0	0	7118	72	3	4	488	4	HIF1A	14	62193436	Missense_Mutation	SNP	A	TCGA-2G-AAGM-01A-11D-A42Y-10	24129298	62193436	45156104	49	2337											
CCPG1	9236	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	55669303	55669303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcagaatcatcactggCagttccaatatagatactgt	15	12	6	8	0	3	2	3	0	0	2	4	2	4	2	1	1	1	2	1	1	7	5			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr15:55669303C>A	ENST00000310958.6	-	5	596	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.A100S|CCPG1_ENST00000425574.3_Missense_Mutation_p.A100S|CCPG1_ENST00000442196.3_Missense_Mutation_p.A100S	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	100	Interaction with MCF2L and SRC. {ECO:0000250}.				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)		TCATCACTGGCAGTTCCAATA	0.368																																					p.A100S													.	.			0			c.G298T												130	118	122					15																	55669303		1838	4101	5939	SO:0001583	missense	9236	exon5			CACTGGCAGTTCC	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.298G>T	15.37:g.55669303C>A	ENSP00000311656:p.Ala100Ser		240	0	0		150	0.07	10	NM_020739	53	0.06	3	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745296	0.49151	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.22743	3.98;3.98;1.94	5.31	3.16	0.36331	.	0.419915	0.27000	N	0.021423	T	0.06872	0.0175	N	0.03608	-0.345	0.25084	N	0.990905	B;P;B	0.35774	0.102;0.519;0.102	B;B;B	0.34385	0.049;0.181;0.079	T	0.29243	-1.0018	10	0.10111	T	0.7	.	6.133	0.20215	0.0:0.6606:0.0:0.3394	.	100;100;100	A8K9T0;Q9ULG6-3;Q9ULG6	.;.;CCPG1_HUMAN	S	100	ENSP00000311656:A100S;ENSP00000403400:A100S;ENSP00000415128:A100S	ENSP00000311656:A100S	A	-	1	0	DYX1C1	53456595	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.758000	0.26447	1.199000	0.43173	0.650000	0.86243	GCC			0.368	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000419850.1		NM_004748		A	55669303	C	A	55669303	3	1	33	1	0	0	0	0	1	0	0	0	2940	710	25	2	1991	2	CCPG1	15	55669303	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10		55669303	46862089	50	2338											
ZNF609	23060	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A																															aggacaagaaaaagaaagacINSaaaaaaaagaaggaatcttc																										TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2194-2196)aaafs	p.K732fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	732	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		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						AAAAGAAAGACAAAAAAAAGAA	0.49																																					p.D731fs													.	ZNF609	106		1	Deletion - Frameshift(1)	large_intestine(1)	c.2193_2194insA																																									SO:0001589	frameshift_variant	23060	exon4			GAAAGACAAAAAA	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.2201dupA	15.37:g.64967254_64967254dupA	ENSP00000316527:p.Lys732fs		64	0	0		41	0.32	13	NM_015042	18	0	0	Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	CCDS32270.1																																																																																					0.49	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418130.1		XM_042833		A	64967247	-	A	64967246	7	5	33	1	0	1	1	0	0	0	0	0	18058	477	17	0	2207	0	ZNF609	15	64967246	Frame_Shift_Ins	INS	-	TCGA-2G-AAGM-01A-11D-A42Y-10	9297943	64967246	37564146	51	2339											
ZNF609	23060	mdanderson.org	37	chr15	64967320	64967320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgtgtcgagcagaggaagGcaaaagcccattcagggaat	13	6	15	7	1	1	1	1	0	0	1	2	4	1	3	1	4	2	2	1	4	4	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr15:64967320G>A	ENST00000326648.3	+	4	2395	c.2267G>A	c.(2266-2268)gGc>gAc	p.G756D		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	756						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						GCAGAGGAAGGCAAAAGCCCA	0.488																																					p.G756D													.	.			0			c.G2267A												82	92	89					15																	64967320		2203	4297	6500	SO:0001583	missense	23060	exon4			AGGAAGGCAAAAG	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.2267G>A	15.37:g.64967320G>A	ENSP00000316527:p.Gly756Asp		92	0	0		53	0.06	3	NM_015042	24	0	0	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969109	0.53614	.	.	ENSG00000180357	ENST00000326648	T	0.52526	0.66	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.65323	0.934	T	0.52540	-0.8562	10	0.19147	T	0.46	-22.1903	20.2422	0.98381	0.0:0.0:1.0:0.0	.	756	O15014	ZN609_HUMAN	D	756	ENSP00000316527:G756D	ENSP00000316527:G756D	G	+	2	0	ZNF609	62754373	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	6.677000	0.74503	2.782000	0.95742	0.655000	0.94253	GGC			0.488	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418130.1		XM_042833		A	64967320	G	A	64967320	3	1	33	1	0	0	0	0	1	0	0	0	18058	1203	42	2	2281	2	ZNF609	15	64967320	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	74	64967320	37564072	52	2340											
IFT140	9742	mdanderson.org	37	chr16	1634259	1634259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgcatgtcggtgcgcaGgctgtgtgcgacccccgtgg	4	9	17	11	4	0	0	0	0	0	0	1	2	0	0	2	3	3	3	2	3	0	0			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr16:1634259G>T	ENST00000426508.2	-	11	1681	c.1318C>A	c.(1318-1320)Ctg>Atg	p.L440M	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	440					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)				TCGGTGCGCAGGCTGTGTGCG	0.632																																					p.L440M													.	.			0			c.C1318A												49	40	43					16																	1634259		2199	4300	6499	SO:0001583	missense	9742	exon11			TGCGCAGGCTGTG	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.1318C>A	16.37:g.1634259G>T	ENSP00000406012:p.Leu440Met		47	0	0		43	0.07	3	NM_014714	43	0	0	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	6.112	0.388911	0.11581	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.66815	-0.23	5.51	2.46	0.29980	.	0.075134	0.56097	D	0.000033	T	0.79684	0.4488	M	0.82056	2.57	0.49483	D	0.999791	D;D	0.89917	0.999;1.0	D;D	0.80764	0.976;0.994	T	0.79011	-0.1977	10	0.62326	D	0.03	.	10.3123	0.43716	0.2161:0.0:0.7839:0.0	.	440;165	Q96RY7;B4DR58	IF140_HUMAN;.	M	440	ENSP00000406012:L440M	ENSP00000380562:L440M	L	-	1	2	IFT140	1574260	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	4.485000	0.60279	0.369000	0.24510	-0.136000	0.14681	CTG			0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250438.2		NM_014714		T	1634259	G	T	1634259	3	4	33	1	0	0	0	0	1	0	0	0	7571	991	35	3	3154	3	IFT140	16	1634259	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10		1634259	88720494	53	2341											
MAZ	4150	mdanderson.org	37	chr16	29818801	29818801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagatgccgaccatggtgcCcctgagcctcctgagcgtgc	7	7	13	14	2	0	3	0	2	0	1	1	5	1	3	6	1	5	0	6	1	1	0			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr16:29818801C>A	ENST00000322945.6	+	2	860	c.695C>A	c.(694-696)cCc>cAc	p.P232H	MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000569978.1_5'Flank|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Missense_Mutation_p.P232H|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568544.1_5'Flank|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.P209H|MAZ_ENST00000568282.1_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	232					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ACCATGGTGCCCCTGAGCCTC	0.721																																					p.P232H	Colon(72;875 1167 15364 30899 37091)												.	.			0			c.C695A												18	22	20					16																	29818801		1933	4102	6035	SO:0001583	missense	4150	exon2			TGGTGCCCCTGAG	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.695C>A	16.37:g.29818801C>A	ENSP00000313362:p.Pro232His		69	0	0		61	0.05	3	NM_002383	612	0	1	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075213	0.36662	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.14640	2.51;2.49;2.57	3.02	1.92	0.25849	.	1.828040	0.03340	U	0.194657	T	0.19765	0.0475	N	0.19112	0.55	0.80722	D	1	D;D;D	0.64830	0.976;0.994;0.986	P;D;P	0.64042	0.549;0.921;0.79	T	0.52298	-0.8594	10	0.12103	T	0.63	-7.83	9.229	0.37425	0.0:0.7754:0.2246:0.0	.	209;232;232	C6G496;P56270;G5E927	.;MAZ_HUMAN;.	H	209;232;232;8	ENSP00000443956:P209H;ENSP00000313362:P232H;ENSP00000219782:P232H	ENSP00000219782:P232H	P	+	2	0	MAZ	29726302	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	2.689000	0.46993	1.427000	0.47276	0.289000	0.19496	CCC			0.721	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000435536.1		NM_002383		A	29818801	C	A	29818801	3	1	33	1	0	0	0	0	1	0	0	0	9356	623	22	3	701	3	MAZ	16	29818801	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10	28184542	29818801	60535952	54	2342											
CAMKK1	84254	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	3779556	3779556	+	Frame_Shift_Del	DEL	G	G	-																															ccggaatcagaaatggcctcGggggccatgaatgctggggt																								rs370912763		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr17:3779556delG	ENST00000348335.2	-	10	1105	c.957delC	c.(955-957)cccfs	p.P319fs	CAMKK1_ENST00000381771.2_Frame_Shift_Del_p.P357fs|CAMKK1_ENST00000158166.5_Frame_Shift_Del_p.P357fs|CAMKK1_ENST00000381769.2_Frame_Shift_Del_p.P346fs	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AAATGGCCTCGGGGGCCATGA	0.627																																					p.E358fs													CAMKK1_ENST00000158166,colon,carcinoma,0,2	CAMKK1	70		0			c.1072delG												63	54	57					17																	3779556		2203	4300	6503	SO:0001589	frameshift_variant	84254	exon11			GGCCTCGGGGGCC	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.957delC	17.37:g.3779556delG	ENSP00000323118:p.Pro319fs		105	0	0		94	0.37	35	NM_172207	26	0	0	Q9BQH3	Frame_Shift_Del	DEL	ENST00000348335.2	37	CCDS11038.1																																																																																					0.627	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207456.1		NM_032294, NM_172206, NM_172207		-	3779556	G	-	3779556	7	5	33	1	0	1	0	1	0	0	0	0	2608	1103	39	0	592	0	CAMKK1	17	3779556	Frame_Shift_Del	DEL	G	TCGA-2G-AAGM-01A-11D-A42Y-10		3779556	77415654	55	2343											
POTEC	388468	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	14542810	14542810	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccacgttgctcttgccGctccccctgcagcaggggaa	5	7	12	17	3	1	0	0	0	1	0	2	1	2	1	4	2	4	5	4	2	1	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr18:14542810G>A	ENST00000358970.5	-	1	335	c.336C>T	c.(334-336)agC>agT	p.S112S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCTTGCCGCTCCCCCTGC	0.592																																					p.S112S													POTEC,NS,carcinoma,0,1	POTEC	0	1	0			c.C336T												32	42	39					18																	14542810		692	1590	2282	SO:0001819	synonymous_variant	388468	exon1			CTTGCCGCTCCCC	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.336C>T	18.37:g.14542810G>A			481	0	0		245	0.09	21	NM_001137671	0		0		Silent	SNP	ENST00000358970.5	37	CCDS45835.1																																																																																					0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371179.1		XM_496269		A	14542810	G	A	14542810	2	1	33	1	0	0	0	0	0	0	0	1	12279	1078	38	1		1	POTEC	18	14542810	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10		14542810	63534438	56	2344											
CELF4	56853	mdanderson.org	37	chr18	34846535	34846535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggcgtaggcctgctgcaGggggtccgcggcggtggggc	2	6	21	12	5	0	0	0	0	0	0	2	0	2	0	3	8	2	3	3	8	1	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr18:34846535G>T	ENST00000591282.1	-	9	1125	c.1126C>A	c.(1126-1128)Ctg>Atg	p.L376M	CELF4_ENST00000603232.1_Missense_Mutation_p.L375M|CELF4_ENST00000420428.2_Missense_Mutation_p.L376M|CELF4_ENST00000588597.1_Missense_Mutation_p.L365M|CELF4_ENST00000601019.1_Missense_Mutation_p.L374M|CELF4_ENST00000591287.1_Missense_Mutation_p.L375M|CELF4_ENST00000361795.5_Missense_Mutation_p.L374M|CELF4_ENST00000412753.1_Missense_Mutation_p.L375M|CELF4_ENST00000334919.5_Missense_Mutation_p.L366M			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	376					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCTGCTGCAGGGGGTCCGCG	0.647																																					p.L376M													.	.			0			c.C1126A												49	41	43					18																	34846535		2202	4297	6499	SO:0001583	missense	56853	exon9			GCTGCAGGGGGTC	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1126C>A	18.37:g.34846535G>T	ENSP00000464794:p.Leu376Met		67	0	0		43	0.07	3	NM_020180	1	0	0	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835293	0.71373	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.78924	-0.38;-1.22	4.63	4.63	0.57726	.	0.072732	0.56097	D	0.000033	D	0.85852	0.5793	M	0.83384	2.64	0.49130	D	0.999754	D;D;D;D;D;D	0.76494	0.999;0.999;0.997;0.998;0.997;0.995	D;D;D;D;D;D	0.79784	0.993;0.949;0.991;0.943;0.976;0.947	D	0.86435	0.1763	10	0.87932	D	0	-16.0568	5.48	0.16719	0.2423:0.0:0.7577:0.0	.	374;365;101;366;375;376	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	M	376;375;374;366	ENSP00000406823:L375M;ENSP00000335631:L366M	ENSP00000335631:L366M	L	-	1	2	CELF4	33100533	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.119000	0.57891	2.402000	0.81655	0.655000	0.94253	CTG			0.647	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000440892.1		NM_020180		T	34846535	G	T	34846535	3	4	33	1	0	0	0	0	1	0	0	0	3220	991	35	3	350	3	CELF4	18	34846535	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	20303725	34846535	43230713	57	2345											
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	9086806	9086808	+	In_Frame_Del	DEL	CTT	CTT	-																															tagagacagtggctgtagaaCttcttctttccagtgccatg																										TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	CTT	CTT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:9086806_9086808delCTT	ENST00000397910.4	-	1	5210_5212	c.5007_5009delAAG	c.(5005-5010)agaagt>agt	p.R1669del		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1669	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						GGCTGTAGAACTTCTTCTTTCCA	0.517																																					p.1670_1670del													.	MUC16	4315		0			c.5008_5010del																																									SO:0001651	inframe_deletion	94025	exon1			GTAGAACTTCTTC	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.5007_5009delAAG	19.37:g.9086812_9086814delCTT	ENSP00000381008:p.Arg1669del		144	0	0		101	0.15	15	NM_024690	0		0	Q6ZQW5|Q96RK2	In_Frame_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																					0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690		-	9086808	CTT	-	9086806	7	5	33	1	0	1	0	1	0	0	0	0	9989	565	20	0	38850	0	MUC16	19	9086806	In_Frame_Del	DEL	CTT	TCGA-2G-AAGM-01A-11D-A42Y-10		9086806	50042177	58	2346											
TYK2	7297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10488908	10488908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaactttatgtgcaatgtGgatgcagacttcctcagctg	10	12	9	10	0	1	1	1	0	0	1	2	2	2	2	2	1	4	3	2	1	3	3			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:10488908G>A	ENST00000525621.1	-	3	656	c.175C>T	c.(175-177)Cac>Tac	p.H59Y	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.H59Y|TYK2_ENST00000264818.6_Missense_Mutation_p.H59Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	59	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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 tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGTGCAATGTGGATGCAGACT	0.617																																					p.H59Y													.	.			0			c.C175T												86	70	75					19																	10488908		2203	4299	6502	SO:0001583	missense	7297	exon3			CAATGTGGATGCA		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.175C>T	19.37:g.10488908G>A	ENSP00000431885:p.His59Tyr		89	0	0		88	0.19	17	NM_003331	51	0.12	6	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	g	3.854	-0.031240	0.07543	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836;ENST00000530829	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;1.43	4.66	3.48	0.39840	Band 4.1 domain (1);FERM domain (1);	0.244211	0.26719	N	0.022854	T	0.64023	0.2561	M	0.62723	1.935	0.09310	N	1	B;B	0.22276	0.067;0.002	B;B	0.14578	0.011;0.002	T	0.57087	-0.7871	10	0.46703	T	0.11	-17.9389	8.7805	0.34789	0.1178:0.0:0.8822:0.0	.	59;59	E9PPF2;P29597	.;TYK2_HUMAN	Y	59	ENSP00000431885:H59Y;ENSP00000264818:H59Y;ENSP00000432728:H59Y;ENSP00000436175:H59Y;ENSP00000436826:H59Y	ENSP00000264818:H59Y	H	-	1	0	TYK2	10349908	0.821000	0.29204	0.001000	0.08648	0.034000	0.12701	0.936000	0.28938	0.935000	0.37341	0.436000	0.28706	CAC			0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389443.1				A	10488908	G	A	10488908	3	1	33	1	0	0	0	0	1	0	0	0	16834	1348	47	3	3480	3	TYK2	19	10488908	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	1402102	10488908	48640075	59	2347											
S1PR5	53637	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	10624996	10624996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgaggtggtccccgcagtcCcgggccgtgccggcaggcgc	3	5	17	16	6	0	0	0	0	0	0	3	1	2	0	5	5	1	2	5	5	0	0			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:10624996C>T	ENST00000439028.3	-	2	817	c.692G>A	c.(691-693)gGg>gAg	p.G231E	S1PR5_ENST00000333430.4_Missense_Mutation_p.G231E	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	231					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CCCCGCAGTCCCGGGCCGTGC	0.711																																					p.G231E													.	.			0			c.G692A												6	8	7					19																	10624996		2096	4082	6178	SO:0001583	missense	53637	exon2			GCAGTCCCGGGCC	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.692G>A	19.37:g.10624996C>T	ENSP00000416915:p.Gly231Glu		40	0	0		41	0.49	20	NM_030760	7	0.57	4	Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	C	8.699	0.909182	0.17833	.	.	ENSG00000180739	ENST00000439028;ENST00000333430	T;T	0.70986	-0.53;-0.53	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	1.568910	0.05911	U	0.631606	T	0.68641	0.3023	L	0.55103	1.725	0.09310	N	1	B	0.23442	0.085	B	0.28638	0.092	T	0.56884	-0.7905	10	0.41790	T	0.15	.	10.1255	0.42648	0.0:1.0:0.0:0.0	.	231	Q9H228	S1PR5_HUMAN	E	231	ENSP00000416915:G231E;ENSP00000328472:G231E	ENSP00000328472:G231E	G	-	2	0	S1PR5	10485996	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.006000	0.12833	1.802000	0.52723	0.491000	0.48974	GGG			0.711	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452015.1		NM_030760		T	10624996	C	T	10624996	3	4	33	1	0	0	0	0	1	0	0	0	13820	623	22	3	508	3	S1PR5	19	10624996	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10	136088	10624996	48503987	60	2348											
CACNA1A	773	mdanderson.org	37	chr19	13443691	13443691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagagcagttaccatcaaagGgatgcctctgctccccgtca	10	9	9	13	1	3	1	2	0	1	1	4	2	4	2	4	1	4	3	4	1	3	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:13443691G>T	ENST00000360228.5	-	9	1246	c.1247C>A	c.(1246-1248)cCc>cAc	p.P416H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P416H	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	416					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)	ACCATCAAAGGGATGCCTCTG	0.562																																					p.P416H													.	.			0			c.C1247A												78	77	78					19																	13443691		1892	4106	5998	SO:0001583	missense	773	exon9			TCAAAGGGATGCC	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.1247C>A	19.37:g.13443691G>T	ENSP00000353362:p.Pro416His		58	0	0		32	0.09	3	NM_001127222	0		0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645792	0.47258	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.93859	-3.3	5.28	5.28	0.74379	.	1.224310	0.05947	N	0.638171	D	0.95828	0.8642	L	0.42008	1.315	0.44241	D	0.997081	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.956	D	0.89805	0.3978	10	0.42905	T	0.14	.	17.7234	0.88358	0.0:0.0:1.0:0.0	.	416;416	O00555;Q9NS88	CAC1A_HUMAN;.	H	416	ENSP00000353362:P416H	ENSP00000317661:P416H	P	-	2	0	CACNA1A	13304691	1.000000	0.71417	0.991000	0.47740	0.552000	0.35366	6.244000	0.72391	2.473000	0.83533	0.561000	0.74099	CCC			0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104062.2		NM_000068		T	13443691	G	T	13443691	3	4	33	1	0	0	0	0	1	0	0	0	2540	1232	43	3	6543	3	CACNA1A	19	13443691	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	2818695	13443691	45685292	61	2349											
MAP3K10	4294	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr19	40711055	40711055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacccagacccccacgggcGgccagatttcggtagcatct	8	6	12	15	3	1	2	0	0	1	2	2	3	1	3	4	4	1	2	4	4	1	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:40711055G>T	ENST00000253055.3	+	4	1328	c.1040G>T	c.(1039-1041)cGg>cTg	p.R347L	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCCCACGGGCGGCCAGATTTC	0.607																																					p.R347L													.	.			0			c.G1040T												81	87	85					19																	40711055		2203	4300	6503	SO:0001583	missense	4294	exon4			ACGGGCGGCCAGA	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1040G>T	19.37:g.40711055G>T	ENSP00000253055:p.Arg347Leu		154	0	0		105	0.05	5	NM_002446	47	0	0	Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103208	0.94245	.	.	ENSG00000130758	ENST00000253055	D	0.99264	-5.65	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062472	0.64402	D	0.000010	D	0.99645	0.9869	H	0.97707	4.06	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.97583	1.0112	10	0.87932	D	0	.	16.5687	0.84605	0.0:0.0:1.0:0.0	.	347	Q02779	M3K10_HUMAN	L	347	ENSP00000253055:R347L	ENSP00000253055:R347L	R	+	2	0	MAP3K10	45402895	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.698000	0.98700	2.564000	0.86499	0.585000	0.79938	CGG			0.607	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462552.1		NM_002446		T	40711055	G	T	40711055	3	4	33	1	0	0	0	0	1	0	0	0	9260	1116	39	1	1054	1	MAP3K10	19	40711055	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	27267364	40711055	18417928	62	2350											
SYMPK	8189	broad.mit.edu	37	chr19	46355581	46355581	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccataccatgcctcctcGatgaagccgatgacaaattt	11	9	7	14	2	0	2	0	2	0	0	2	4	1	2	6	0	3	0	6	0	3	2	rs371606879		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:46355581G>T	ENST00000245934.7	-	5	532	c.288C>A	c.(286-288)atC>atA	p.I96I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	96	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGCCTCCTCGATGAAGCCGA	0.567																																					p.I96I													.	SYMPK	104		0			c.C288A												160	157	158					19																	46355581		2014	4188	6202	SO:0001819	synonymous_variant	8189	exon5			CTCCTCGATGAAG	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.288C>A	19.37:g.46355581G>T			174	0	0		96	0.03	3	NM_004819	192	0	0	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																					0.567	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316581.1		NM_004819		T	46355581	G	T	46355581	2	4	33	1	0	0	0	0	0	0	0	1	15462	1048	37	1		1	SYMPK	19	46355581	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	5644526	46355581	12773402	63	2351											
MYH14	79784	mdanderson.org	37	chr19	50728869	50728869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagcggcagctgcttcagGccaaccccatcctagaggcc	8	6	12	15	1	1	1	1	0	0	1	2	2	2	2	5	4	4	3	5	4	2	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:50728869G>T	ENST00000596571.1	+	5	721	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	MYH14_ENST00000425460.1_Missense_Mutation_p.A249S|MYH14_ENST00000601313.1_Missense_Mutation_p.A249S|MYH14_ENST00000598205.1_Missense_Mutation_p.A249S|MYH14_ENST00000376970.2_Missense_Mutation_p.A241S|MYH14_ENST00000440075.2_Missense_Mutation_p.A249S|MYH14_ENST00000262269.8_Missense_Mutation_p.A249S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	241	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)		GCTGCTTCAGGCCAACCCCAT	0.617																																					p.A249S													.	.			0			c.G745T												24	27	26					19																	50728869		2203	4300	6503	SO:0001583	missense	79784	exon7			CTTCAGGCCAACC	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.721G>T	19.37:g.50728869G>T	ENSP00000472819:p.Ala241Ser		55	0	0		38	0.08	3	NM_001077186	25	0	0	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049570	0.75846	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.38	4.38	0.52667	Myosin head, motor domain (2);	.	.	.	.	T	0.79446	0.4447	L	0.51422	1.61	0.80722	D	1	D;P;P	0.76494	0.999;0.839;0.924	D;P;D	0.70227	0.968;0.898;0.922	T	0.81593	-0.0862	9	0.87932	D	0	.	14.8092	0.69982	0.0:0.0:1.0:0.0	.	249;241;249	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	S	241;249;241;249;241;249	ENSP00000406273:A249S;ENSP00000366169:A241S;ENSP00000407879:A249S;ENSP00000262269:A249S	ENSP00000262269:A249S	A	+	1	0	MYH14	55420681	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	7.321000	0.79088	2.433000	0.82419	0.637000	0.83480	GCC			0.617	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464710.2		NM_024729		T	50728869	G	T	50728869	3	4	33	1	0	0	0	0	1	0	0	0	10049	1203	42	2	767	2	MYH14	19	50728869	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	4373288	50728869	8400114	64	2352											
ZNRF3	84133	mdanderson.org	37	chr22	29439337	29439337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccggtggtgtatgtgaaGggtgcagatgccattaagct	9	10	16	6	1	0	2	0	1	0	1	0	2	0	2	2	4	3	3	2	4	3	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr22:29439337G>T	ENST00000544604.2	+	4	727	c.552G>T	c.(550-552)aaG>aaT	p.K184N	ZNRF3_ENST00000406323.3_Missense_Mutation_p.K84N|ZNRF3_ENST00000332811.4_Missense_Mutation_p.K84N|ZNRF3_ENST00000402174.1_Missense_Mutation_p.K84N	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	184					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						TGTATGTGAAGGGTGCAGATG	0.532																																					p.K184N													.	.			0			c.G552T												84	90	88					22																	29439337		2005	4175	6180	SO:0001583	missense	84133	exon4			TGTGAAGGGTGCA	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.552G>T	22.37:g.29439337G>T	ENSP00000443824:p.Lys184Asn		63	0	0		37	0.08	3	NM_001206998	44	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921353	0.73213	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.10960	2.99;2.82;2.82;2.82	5.86	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.29908	0.895	0.48762	D	0.999706	D	0.89917	1.0	D	0.71184	0.972	T	0.00391	-1.1769	10	0.45353	T	0.12	-0.0807	13.6452	0.62277	0.1254:0.0:0.8746:0.0	.	184	Q9ULT6	ZNRF3_HUMAN	N	184;84;84;84	ENSP00000443824:K184N;ENSP00000328614:K84N;ENSP00000384456:K84N;ENSP00000384553:K84N	ENSP00000328614:K84N	K	+	3	2	ZNRF3	27769337	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.404000	0.52623	2.775000	0.95449	0.655000	0.94253	AAG			0.532	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972		T	29439337	G	T	29439337	3	4	33	1	0	0	0	0	1	0	0	0	18236	991	35	3	262	3	ZNRF3	22	29439337	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10		29439337	21865229	65	2353											
CYB5R3	1727	mdanderson.org	37	chr22	43019864	43019864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttcctgagttcctccaGctcaggtcgcagcaggatgt	6	13	11	11	1	1	1	1	1	0	0	5	2	4	2	3	2	2	5	3	2	0	3			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr22:43019864G>T	ENST00000352397.5	-	8	916	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	CYB5R3_ENST00000407623.3_Missense_Mutation_p.L199M|CYB5R3_ENST00000396303.3_Missense_Mutation_p.L199M|CYB5R3_ENST00000361740.4_Missense_Mutation_p.L255M|CYB5R3_ENST00000402438.1_Missense_Mutation_p.L199M|CYB5R3_ENST00000407332.1_Missense_Mutation_p.L199M	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	222					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|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)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	AGTTCCTCCAGCTCAGGTCGC	0.602																																					p.L255M													.	.			0			c.C763A												143	114	124					22																	43019864		2203	4300	6503	SO:0001583	missense	1727	exon8			CCTCCAGCTCAGG	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"diaphorase (NADH) (cytochrome b-5 reductase)"	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.664C>A	22.37:g.43019864G>T	ENSP00000338461:p.Leu222Met		90	0	0		52	0.06	3	NM_001171660	352	0	0	B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613204	0.46631	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	4.66	3.65	0.41850	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.64402	D	0.000001	D	0.95636	0.8581	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96004	0.8996	10	0.72032	D	0.01	-21.7036	11.7001	0.51567	0.0868:0.0:0.9132:0.0	.	255;222	B7Z7L3;P00387	.;NB5R3_HUMAN	M	255;199;222;199;199;199	ENSP00000354468:L255M;ENSP00000379597:L199M;ENSP00000338461:L222M;ENSP00000384834:L199M;ENSP00000384457:L199M;ENSP00000385679:L199M	ENSP00000338461:L222M	L	-	1	2	CYB5R3	41349808	1.000000	0.71417	0.999000	0.59377	0.361000	0.29550	4.327000	0.59247	1.335000	0.45486	0.561000	0.74099	CTG			0.602	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320439.1				T	43019864	G	T	43019864	3	4	33	1	0	0	0	0	1	0	0	0	4130	962	34	2	249	2	CYB5R3	22	43019864	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	13580527	43019864	8284702	66	2354											
PIM3	415116	mdanderson.org	37	chr22	50356646	50356646	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagagcggccgtcgctGgatcagattgcggcccatcc	6	7	12	16	4	2	2	2	0	0	2	4	3	3	3	4	3	2	1	4	3	0	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr22:50356646G>T	ENST00000360612.4	+	6	1287	c.852G>T	c.(850-852)ctG>ctT	p.L284L		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCGTCGCTGGATCAGATTG	0.697																																					p.L284L													.	.			0			c.G852T												22	27	25					22																	50356646		2200	4298	6498	SO:0001819	synonymous_variant	415116	exon6			GTCGCTGGATCAG	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"pim-3 oncogene"			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.852G>T	22.37:g.50356646G>T			47	0	0		41	0.07	3	NM_001001852	64	0	0	A5D8X8|A8K7J0|B1B0P0|Q68BM2	Silent	SNP	ENST00000360612.4	37	CCDS33678.1																																																																																					0.697	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317406.1		NM_001001852		T	50356646	G	T	50356646	2	4	33	1	0	0	0	0	0	0	0	1	11946	1335	47	3		3	PIM3	22	50356646	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	7336782	50356646	947920	67	2355											
PLXNB2	23654	bcgsc.ca	37	chr22	50719062	50719062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaagtagaccttggcgcggGccgagaactcccgctggttc	7	7	14	13	5	0	2	0	0	0	2	2	4	1	2	3	3	1	3	3	3	3	3	rs200418278		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr22:50719062G>T	ENST00000449103.1	-	25	4171	c.4031C>A	c.(4030-4032)gCc>gAc	p.A1344D	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1344D|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1344					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)		CTTGGCGCGGGCCGAGAACTC	0.667																																					p.A1344D													.	PLXNB2	172		0			c.C4031A												45	50	48					22																	50719062		2084	4194	6278	SO:0001583	missense	23654	exon25			GCGCGGGCCGAGA		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.4031C>A	22.37:g.50719062G>T	ENSP00000409171:p.Ala1344Asp		70	0	0		39	0.1	4	NM_012401	234	0	0	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877653	0.91664	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.16457	2.34;2.34	4.07	4.07	0.47477	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000009	T	0.39963	0.1098	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.17592	-1.0364	10	0.24483	T	0.36	.	16.785	0.85572	0.0:0.0:1.0:0.0	.	1344	O15031	PLXB2_HUMAN	D	1344	ENSP00000409171:A1344D;ENSP00000352288:A1344D	ENSP00000352288:A1344D	A	-	2	0	PLXNB2	49061189	1.000000	0.71417	0.935000	0.37517	0.948000	0.59901	9.259000	0.95561	2.254000	0.74563	0.561000	0.74099	GCC			0.667	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316874.3		NM_012401		T	50719062	G	T	50719062	3	4	33	1	0	0	0	0	1	0	0	0	12141	1203	42	2	1537	2	PLXNB2	22	50719062	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	362416	50719062	585504	68	2356											
DMD	1756	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	32456429	32456429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattagctcatccatgactcCgccatctgttagggtctgtg	7	13	10	11	1	3	1	1	1	2	0	5	2	5	1	3	1	1	2	3	1	2	2	rs146880270		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:32456429C>T	ENST00000357033.4	-	29	4206	c.4000G>A	c.(4000-4002)Gga>Aga	p.G1334R	DMD_ENST00000378677.2_Missense_Mutation_p.G1330R	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	1334					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)				TCCATGACTCCGCCATCTGTT	0.378																																					p.G1334R													.	DMD	2127		0			c.G4000A							C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,3830		0,1,1629,571	131	111	118		3976,4000,3631,3988,3631	5.8	1	X	dbSNP_134	118	1,6727		0,1,2427,1872	no	missense,missense,missense,missense,missense	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	125,125,125,125,125	0,2,4056,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1326/3678,1334/3686,1211/3563,1330/3682,1211/3563	32456429	2,10557	2201	4300	6501	SO:0001583	missense	1756	exon29			TGACTCCGCCATC	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.4000G>A	X.37:g.32456429C>T	ENSP00000354923:p.Gly1334Arg		234	0.0042735043	1		232	0.41	94	NM_004006	24	0.5	12	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170796	0.78452	2.61E-4	1.49E-4	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.37235	1.21;1.21	5.82	5.82	0.92795	.	0.000000	0.36234	U	0.002719	T	0.41766	0.1173	L	0.47016	1.485	0.80722	D	1	P;D;P	0.58620	0.93;0.983;0.885	P;P;B	0.46144	0.505;0.448;0.308	T	0.36625	-0.9740	10	0.72032	D	0.01	.	18.667	0.91493	0.0:1.0:0.0:0.0	.	1326;1334;1330	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	R	1326;1330;1334;1334;1211	ENSP00000367948:G1330R;ENSP00000354923:G1334R	ENSP00000354923:G1334R	G	-	1	0	DMD	32366350	0.996000	0.38824	0.963000	0.40424	0.989000	0.77384	3.368000	0.52357	2.453000	0.82957	0.600000	0.82982	GGA			0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056182.2		NM_004006		T	32456429	C	T	32456429	3	4	33	1	0	0	0	0	1	0	0	0	4585	661	23	1	7504	1	DMD	23	32456429	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10		32456429	122814131	69	2357											
FGD1	2245	mdanderson.org	37	chrX	54497049	54497049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcagtgaggatactgctGcagaactggggctggcctct	9	9	13	10	0	2	2	1	1	1	1	2	3	2	3	1	4	4	3	1	4	3	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:54497049G>A	ENST00000375135.3	-	3	1359	c.626C>T	c.(625-627)gCa>gTa	p.A209V		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	209	Pro-rich.				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						GGATACTGCTGCAGAACTGGG	0.637																																					p.A209V													.	.			0			c.C626T												24	19	21					X																	54497049		2202	4298	6500	SO:0001583	missense	2245	exon3			ACTGCTGCAGAAC	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.626C>T	X.37:g.54497049G>A	ENSP00000364277:p.Ala209Val		43	0	0		51	0.06	3	NM_004463	82	0	0	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021933	0.75275	.	.	ENSG00000102302	ENST00000375135	T	0.65364	-0.15	5.16	5.16	0.70880	.	0.126397	0.36444	N	0.002592	T	0.38401	0.1039	N	0.08118	0	0.39571	D	0.969281	P	0.43477	0.808	B	0.30943	0.122	T	0.53244	-0.8466	10	0.59425	D	0.04	-12.0612	15.3555	0.74423	0.0:0.0:1.0:0.0	.	209	P98174	FGD1_HUMAN	V	209	ENSP00000364277:A209V	ENSP00000364277:A209V	A	-	2	0	FGD1	54513774	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	6.418000	0.73341	2.306000	0.77630	0.292000	0.19580	GCA			0.637	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056801.1		NM_004463		A	54497049	G	A	54497049	3	1	33	1	0	0	0	0	1	0	0	0	5845	1319	46	2	2323	2	FGD1	23	54497049	Missense_Mutation	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	22040620	54497049	100773511	70	2358											
AIFM1	9131	broad.mit.edu	37	chrX	129264042	129264042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctttgccgtagtccTccccctggacgggagcctgt	5	10	11	15	2	0	1	0	1	0	0	2	3	2	3	6	2	2	1	6	2	1	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:129264042T>C	ENST00000287295.3	-	15	1903	c.1673A>G	c.(1672-1674)gAg>gGg	p.E558G	AIFM1_ENST00000346424.2_Missense_Mutation_p.E271G|AIFM1_ENST00000460436.2_Missense_Mutation_p.E219G|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.E206G|AIFM1_ENST00000319908.3_Missense_Mutation_p.E554G	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	558					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GCCGTAGTCCTCCCCCTGGAC	0.532																																					p.E558G													.	AIFM1	75		0			c.A1673G												169	160	163					X																	129264042		2203	4300	6503	SO:0001583	missense	9131	exon15			TAGTCCTCCCCCT	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1673A>G	X.37:g.129264042T>C	ENSP00000287295:p.Glu558Gly		155	0.0258064516	4		189	0.03	5	NM_004208	302	0	1	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.698898	0.48307	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.84298	0.79;0.79;-1.83;0.79;-0.83	4.88	4.88	0.63580	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.099426	0.64402	D	0.000002	D	0.84037	0.5384	M	0.69523	2.12	0.80722	D	1	B;B;B	0.15719	0.006;0.014;0.008	B;B;B	0.17098	0.011;0.017;0.007	T	0.81230	-0.1027	10	0.42905	T	0.14	-17.2625	13.6612	0.62368	0.0:0.0:0.0:1.0	.	271;554;558	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	G	219;271;554;206;558	ENSP00000431222:E219G;ENSP00000316320:E271G;ENSP00000315122:E554G;ENSP00000405879:E206G;ENSP00000287295:E558G	ENSP00000287295:E558G	E	-	2	0	AIFM1	129091723	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.525000	0.81892	1.798000	0.52647	0.486000	0.48141	GAG			0.532	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058247.2				C	129264042	T	C	129264042	3	2	33	1	0	0	0	0	1	0	0	0	426	1551	54	4	176	4	AIFM1	23	129264042	Missense_Mutation	SNP	T	TCGA-2G-AAGM-01A-11D-A42Y-10	74766993	129264042	26006518	71	2359											
CDR1	1038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	139866052	139866052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaacaatccaagtcttccGgataatttgggtcttcctga	10	12	7	12	1	2	1	0	1	2	0	5	2	5	2	4	2	1	0	4	2	4	4	rs146276960		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:139866052G>A	ENST00000370532.2	-	1	671	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	160	6 X 6 AA approximate repeats.							p.S160S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAAGTCTTCCGGATAATTTGG	0.443													G|||	1	0.000264901	0	0	3775	,	,		15094	0		0	False		,,,				2504	0.001				p.S160S													.	.			1	Substitution - coding silent(1)	large_intestine(1)	c.C480T							G		1,3832		0,1,1630,571	134	140	138		480	-7	0	X	dbSNP_134	138	1,6727		0,1,2427,1872	no	coding-synonymous	CDR1	NM_004065.2		0,2,4057,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		160/263	139866052	2,10559	2202	4300	6502	SO:0001819	synonymous_variant	1038	exon1			TCTTCCGGATAAT		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.480C>T	X.37:g.139866052G>A			349	0	0		423	0.26	108	NM_004065	4	0.5	2	Q5JXH6	Silent	SNP	ENST00000370532.2	37	CCDS14670.1																																																																																			0		0.443	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058583.1		NM_004065		A	139866052	G	A	139866052	2	1	33	1	0	0	0	0	0	0	0	1	3173	1103	39	1		1	CDR1	23	139866052	Silent	SNP	G	TCGA-2G-AAGM-01A-11D-A42Y-10	10602010	139866052	15404508	72	2360											
MAMLD1	10046	bcgsc.ca	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	11	4	10	16	0	0	0	0	0	0	0	0	0	0	0	2	0	11	8	2	0	1	1			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				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)					TTgcagctgcagcagcagcag	0.607																																					p.Q597L													.	MAMLD1	263		0			c.A1790T												67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046	exon3			AGCTGCAGCAGCA	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.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu		130	0.0076923077	1		204	0.04	8	NM_005491	15	0	0	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG			0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000060844.2		NM_005491		T	149639635	A	T	149639635	3	4	33	1	0	0	0	0	1	0	0	0	9224	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-2G-AAGM-01A-11D-A42Y-10	9773583	149639635	5630925	73	2361											
GABRE	2564	broad.mit.edu	37	chrX	151138734	151138734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagaggcttctggcagtttgCcaactctgctcccagtctca	7	11	10	13	0	3	1	1	0	3	1	5	2	4	1	2	2	3	4	2	2	1	2			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:151138734C>T	ENST00000370328.3	-	2	250	c.197G>A	c.(196-198)gGc>gAc	p.G66D	GABRE_ENST00000370325.1_Missense_Mutation_p.G66D|GABRE_ENST00000393914.3_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	66					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGCAGTTTGCCAACTCTGCT	0.527																																					p.G66D													.	GABRE	141		0			c.G197A												169	151	157					X																	151138734		2203	4300	6503	SO:0001583	missense	2564	exon2			AGTTTGCCAACTC	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.197G>A	X.37:g.151138734C>T	ENSP00000359353:p.Gly66Asp		210	0	0		237	0.03	6	NM_004961	3	0	0	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	c	15.76	2.928047	0.52759	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79554	-1.28;-0.67	4.11	2.33	0.28932	.	0.584174	0.14388	N	0.322720	T	0.63581	0.2523	N	0.08118	0	0.09310	N	0.999998	D	0.59767	0.986	P	0.47206	0.541	T	0.55159	-0.8184	10	0.44086	T	0.13	.	4.4851	0.11785	0.0:0.5795:0.284:0.1365	.	66	P78334	GBRE_HUMAN	D	66	ENSP00000359353:G66D;ENSP00000359350:G66D	ENSP00000359350:G66D	G	-	2	0	GABRE	150889390	0.000000	0.05858	0.001000	0.08648	0.214000	0.24535	0.110000	0.15437	0.484000	0.27630	0.597000	0.82753	GGC			0.527	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060903.1		NM_004961, NM_021990, NM_021984		T	151138734	C	T	151138734	3	4	33	1	0	0	0	0	1	0	0	0	6183	739	26	2	1355	2	GABRE	23	151138734	Missense_Mutation	SNP	C	TCGA-2G-AAGM-01A-11D-A42Y-10	1499099	151138734	4131826	74	2362											
GON4L	54856	mdanderson.org	37	chr1	155721600	155721600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgggagatgatgttGaaggtctgtggctgtgcccc	6	11	16	8	0	1	3	0	2	1	1	1	4	1	3	2	3	3	4	2	3	1	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr1:155721600G>T	ENST00000368331.1	-	31	6582	c.6534C>A	c.(6532-6534)ttC>ttA	p.F2178L	GON4L_ENST00000271883.5_Missense_Mutation_p.F2177L|GON4L_ENST00000437809.1_Missense_Mutation_p.F2177L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2178	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				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)					AGATGATGTTGAAGGTCTGTG	0.547																																					p.F2177L													GON4L_ENST00000437809,lower_third,carcinoma,0,2	GON4L_ENST00000437809	0	2	0			c.C6531A												77	70	73					1																	155721600		1997	4170	6167	SO:0001583	missense	54856	exon31			GATGTTGAAGGTC	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.6534C>A	1.37:g.155721600G>T	ENSP00000357315:p.Phe2178Leu		73	0	0		81	0.05	4	NM_001037533	153	0	0	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	14.41	2.526706	0.44969	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.30448	1.53;1.53;1.53	4.97	-6.4	0.01944	SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);MYB-like (1);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.73217	2.22	0.25095	N	0.990826	D;D	0.61697	0.982;0.99	D;D	0.72982	0.952;0.979	T	0.52953	-0.8506	10	0.54805	T	0.06	.	16.2951	0.82767	0.7166:0.0:0.2834:0.0	.	2178;2177	Q3T8J9;Q3T8J9-3	GON4L_HUMAN;.	L	2177;2178;2177	ENSP00000396117:F2177L;ENSP00000357315:F2178L;ENSP00000271883:F2177L	ENSP00000271883:F2177L	F	-	3	2	GON4L	153988224	0.002000	0.14202	0.001000	0.08648	0.314000	0.28054	-0.074000	0.11450	-1.610000	0.01583	-0.149000	0.13747	TTC			0.547	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_032292		T	155721600	G	T	155721600	3	4	34	1	0	0	0	0	1	0	0	0	6586	1281	45	3	199	3	GON4L	1	155721600	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		155721600	93529021	1	2363											
PCP4L1	654790	broad.mit.edu	37	chr1	161254255	161254255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgatttcagaaaaggaaaaAggatcccagctcctgaatgg	15	7	11	8	1	1	2	1	1	0	1	3	5	3	4	2	3	1	1	2	3	5	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr1:161254255A>G	ENST00000504449.1	+	3	439	c.191A>G	c.(190-192)aAg>aGg	p.K64R		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	64	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAAAGGAAAAAGGATCCCAGC	0.517																																					p.K64R													.	PCP4L1	7		0			c.A191G												57	59	58					1																	161254255		1944	4137	6081	SO:0001583	missense	654790	exon3			GGAAAAAGGATCC	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"purkinje cell protein 4 like 1"				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.191A>G	1.37:g.161254255A>G	ENSP00000426296:p.Lys64Arg		396	0	0		392	0.01	5	NM_001102566	5	0	0	B2RV24|B9EJG4	Missense_Mutation	SNP	ENST00000504449.1	37	CCDS53412.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287629	0.59976	.	.	ENSG00000248485	ENST00000504449	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.49047	0.1534	.	.	.	.	.	.	D	0.58268	0.982	P	0.58013	0.831	T	0.54221	-0.8326	7	0.33940	T	0.23	.	9.2707	0.37670	0.8184:0.1816:0.0:0.0	.	64	A6NKN8	PC4L1_HUMAN	R	64	.	ENSP00000426296:K64R	K	+	2	0	PCP4L1	159520879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.674000	0.61612	2.200000	0.70718	0.459000	0.35465	AAG			0.517	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082986.2				G	161254255	A	G	161254255	3	3	34	1	0	0	0	0	1	0	0	0	11616	72	3	4	201	4	PCP4L1	1	161254255	Missense_Mutation	SNP	A	TCGA-2G-AAGN-01A-11D-A42Y-10	5532655	161254255	87996366	2	2364											
RGPD2	729857	broad.mit.edu	37	chr2	88125234	88125234	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtaccgctccccgtaggcTttgctgcgcctcatcgcacc	5	9	10	17	4	1	0	1	0	0	0	3	0	2	0	5	2	3	6	5	2	2	3	rs550032815	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr2:88125234T>C	ENST00000398146.3	-	1	237	c.15A>G	c.(13-15)aaA>aaG	p.K5K	RGPD2_ENST00000420840.2_Intron|RGPD2_ENST00000327544.6_5'UTR			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	5					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CCCCGTAGGCTTTGCTGCGCC	0.667													.|||	4	0.000798722	0	0	5008	,	,		10105	0		0.002	False		,,,				2504	0.002				p.K5K													.	RGPD2	14		0			c.A15G												36	56	50					2																	88125234		692	1591	2283	SO:0001819	synonymous_variant	729857	exon1			GTAGGCTTTGCTG		CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.15A>G	2.37:g.88125234T>C			66	0.0151515152	1		71	0.11	8	NM_001078170	0		0	P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000398146.3	37	CCDS42710.2																																																																																					0.667	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330534.2		NM_001078170		C	88125234	T	C	88125234	2	2	34	1	0	0	0	0	0	0	0	1	13309	1606	56	4		4	RGPD2	2	88125234	Silent	SNP	T	TCGA-2G-AAGN-01A-11D-A42Y-10		88125234	155074139	3	2365											
ANKMY1	51281	mdanderson.org	37	chr2	241492364	241492364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcatgtacatggtgccGtagccttctcggtggctgag	5	13	13	10	2	3	1	1	1	2	0	4	1	3	1	2	3	3	3	2	3	2	4	rs202087165		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr2:241492364G>A	ENST00000272972.3	-	3	394	c.180C>T	c.(178-180)taC>taT	p.Y60Y	ANKMY1_ENST00000391987.1_Silent_p.Y60Y|ANKMY1_ENST00000361678.4_Silent_p.Y149Y|ANKMY1_ENST00000373320.4_Silent_p.Y60Y|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405523.3_Silent_p.Y149Y|ANKMY1_ENST00000405002.1_Silent_p.Y60Y|ANKMY1_ENST00000403283.1_Silent_p.Y228Y|ANKMY1_ENST00000406958.1_Silent_p.Y149Y|ANKMY1_ENST00000536462.1_Silent_p.Y102Y|ANKMY1_ENST00000373318.2_Silent_p.Y149Y|ANKMY1_ENST00000401804.1_Silent_p.Y149Y	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	60							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)		ACATGGTGCCGTAGCCTTCTC	0.562													G|||	1	0.000199681	0	0.0014	5008	,	,		18046	0		0	False		,,,				2504	0				p.Y149Y													.	.			0			c.C447T												121	105	110					2																	241492364		2203	4300	6503	SO:0001819	synonymous_variant	51281	exon4			GGTGCCGTAGCCT	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.180C>T	2.37:g.241492364G>A			60	0	0		56	0.05	3	NM_017844	5	0	0	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	CCDS2536.1																																																																																			0		0.562	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000257187.2		NM_017844		A	241492364	G	A	241492364	2	1	34	1	0	0	0	0	0	0	0	1	634	1140	40	1		1	ANKMY1	2	241492364	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	153367130	241492364	1707009	4	2366											
LRRC66	339977	mdanderson.org	37	chr4	52861268	52861268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagcccttgccccggaCagccttggctgctgtatgct	4	11	10	16	1	1	0	1	0	0	0	2	1	2	1	5	2	5	4	5	2	1	3			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr4:52861268C>T	ENST00000343457.3	-	4	1926	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	640						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTGCCCCGGACAGCCTTGGCT	0.537																																					p.L640L													.	.			0			c.G1920A												70	69	70					4																	52861268		1998	4173	6171	SO:0001819	synonymous_variant	339977	exon4			CCCGGACAGCCTT	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1920G>A	4.37:g.52861268C>T			87	0	0		53	0.06	3	NM_001024611	0		0		Silent	SNP	ENST00000343457.3	37	CCDS43229.1																																																																																					0.537	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361473.1		NM_001024611		T	52861268	C	T	52861268	2	4	34	1	0	0	0	0	0	0	0	1	9034	465	17	3		3	LRRC66	4	52861268	Silent	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10		52861268	138293008	5	2367											
HERC6	55008	mdanderson.org	37	chr4	89338644	89338644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatgcttaaagcagccatCatctctcagctgcttcatca	11	11	6	13	0	5	1	4	0	1	1	6	1	5	1	1	0	5	4	1	0	2	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr4:89338644C>T	ENST00000264346.7	+	13	1685	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	HERC6_ENST00000380265.5_Silent_p.I542I	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	542					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAGCAGCCATCATCTCTCAGC	0.403																																					p.I542I													.	.			0			c.C1626T												73	67	69					4																	89338644		1881	4108	5989	SO:0001819	synonymous_variant	55008	exon13			AGCCATCATCTCT	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1626C>T	4.37:g.89338644C>T			75	0	0		40	0.08	3	NM_017912	8	0	0	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	CCDS47098.1																																																																																					0.403	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000363259.2				T	89338644	C	T	89338644	2	4	34	1	0	0	0	0	0	0	0	1	7077	816	29	3		3	HERC6	4	89338644	Silent	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	36477376	89338644	101815632	6	2368											
FTMT	94033	mdanderson.org	37	chr5	121187687	121187687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcaggctcctctccaGgcacatcagcccttcgctgg	5	10	9	17	1	3	0	2	0	1	0	6	0	4	0	3	3	2	4	3	3	0	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr5:121187687G>T	ENST00000321339.1	+	1	38	c.29G>T	c.(28-30)aGg>aTg	p.R10M		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	10					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTCCTCTCCAGGCACATCAGC	0.711																																					p.R10M													.	.			0			c.G29T												27	30	29					5																	121187687		2201	4297	6498	SO:0001583	missense	94033	exon1			TCTCCAGGCACAT	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.29G>T	5.37:g.121187687G>T	ENSP00000313691:p.Arg10Met		22	0	0		24	0.13	3	NM_177478	0		0		Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459214	0.26248	.	.	ENSG00000181867	ENST00000321339	T	0.66280	-0.2	3.1	0.679	0.17975	.	.	.	.	.	T	0.41858	0.1177	N	0.24115	0.695	0.09310	N	1	P	0.44090	0.826	B	0.38562	0.276	T	0.27502	-1.0072	9	0.56958	D	0.05	.	4.7257	0.12939	0.695:0.0:0.305:0.0	.	10	Q8N4E7	FTMT_HUMAN	M	10	ENSP00000313691:R10M	ENSP00000313691:R10M	R	+	2	0	FTMT	121215586	0.018000	0.18449	0.096000	0.21009	0.130000	0.20726	0.634000	0.24614	0.123000	0.18342	-0.312000	0.09012	AGG			0.711	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250884.1		NM_177478		T	121187687	G	T	121187687	3	4	34	1	0	0	0	0	1	0	0	0	6098	1000	35	3	31	3	FTMT	5	121187687	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		121187687	59727573	7	2369											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100492	27100492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccgccttcttggagcccTttttcggggcgggagcagac	5	10	13	13	3	2	1	1	0	1	1	3	3	2	3	3	4	2	1	3	4	0	4			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:27100492T>C	ENST00000607124.1	-	1	37	c.38A>G	c.(37-39)aAg>aGg	p.K13R	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K13R|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K13R			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	13					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)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTTGGAGCCCTTTTTCGGGGC	0.537																																					p.K13R													HIST1H2BJ,NS,carcinoma,+1,1	HIST1H2BJ	21	1	0			c.A38G												82	84	83					6																	27100492		2203	4300	6503	SO:0001583	missense	8970	exon1			GAGCCCTTTTTCG	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.38A>G	6.37:g.27100492T>C	ENSP00000476136:p.Lys13Arg		109	0	0		136	0.03	4	NM_021058	5	0	0	B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282737	0.59867	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.25250	1.81;1.81	4.27	4.27	0.50696	Histone-fold (2);	.	.	.	.	T	0.18173	0.0436	M	0.82716	2.605	0.44447	D	0.997372	B	0.33694	0.421	B	0.24974	0.057	T	0.10474	-1.0628	9	0.59425	D	0.04	.	11.9985	0.53216	0.0:0.0:0.0:1.0	.	13	P06899	H2B1J_HUMAN	R	13	ENSP00000445633:K13R;ENSP00000342886:K13R	ENSP00000342886:K13R	K	-	2	0	HIST1H2BJ	27208471	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.212000	0.77941	1.883000	0.54544	0.533000	0.62120	AAG			0.537	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040138.2		NM_021058		C	27100492	T	C	27100492	3	2	34	1	0	0	0	0	1	0	0	0	7164	1609	56	4	346	4	HIST1H2BJ	6	27100492	Missense_Mutation	SNP	T	TCGA-2G-AAGN-01A-11D-A42Y-10		27100492	144014575	8	2370											
TREML2	79865	hgsc.bcm.edu	37	chr6	41166123	41166123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacagacagagtctcccCttcaaggagcctcacttttg	9	10	8	14	0	3	2	2	0	1	2	4	3	3	3	3	1	2	1	3	1	1	3			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:41166123C>T	ENST00000483722.1	-	2	285	c.100G>A	c.(100-102)Ggg>Agg	p.G34R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	34	Ig-like V-type.				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)					AGAGTCTCCCCTTCAAGGAGC	0.493																																					p.G34R													.	.			0			c.G100A												127	130	129					6																	41166123		2203	4300	6503	SO:0001583	missense	79865	exon2			TCTCCCCTTCAAG	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.100G>A	6.37:g.41166123C>T	ENSP00000418767:p.Gly34Arg		63	0	0		57	0.07	4	NM_024807	2	0	0	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	14.59	2.581804	0.46006	.	.	ENSG00000112195	ENST00000483722	D	0.81499	-1.5	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000044	D	0.86623	0.5977	M	0.75085	2.285	0.40423	D	0.979861	D	0.89917	1.0	D	0.97110	1.0	D	0.88269	0.2928	10	0.72032	D	0.01	-23.1011	13.6225	0.62144	0.0:1.0:0.0:0.0	.	34	Q5T2D2	TRML2_HUMAN	R	34	ENSP00000418767:G34R	ENSP00000418767:G34R	G	-	1	0	TREML2	41274101	1.000000	0.71417	0.998000	0.56505	0.028000	0.11728	3.388000	0.52509	2.344000	0.79699	0.563000	0.77884	GGG			0.493	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043756.3		NM_024807		T	41166123	C	T	41166123	3	4	34	1	0	0	0	0	1	0	0	0	16497	681	24	3	881	3	TREML2	6	41166123	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	14065631	41166123	129948944	9	2371											
SLC22A7	10864	mdanderson.org	37	chr6	43266352	43266352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgcctccgctttgcctatCcccaggctctccccaacacc	5	9	5	22	1	1	0	0	0	1	0	4	0	3	0	9	1	3	2	9	1	2	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:43266352C>T	ENST00000372585.5	+	1	351	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	SLC22A7_ENST00000372574.3_Missense_Mutation_p.P86S|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Missense_Mutation_p.P86S	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	86					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTTTGCCTATCCCCAGGCTCT	0.642																																					p.P86S													.	.			0			c.C256T												42	41	42					6																	43266352		2203	4300	6503	SO:0001583	missense	10864	exon1			GCCTATCCCCAGG	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.256C>T	6.37:g.43266352C>T	ENSP00000361666:p.Pro86Ser		51	0	0		52	0.06	3	NM_153320	0		0	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669426	0.47677	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.63	2.6	0.31112	Major facilitator superfamily domain (1);	0.180804	0.48286	N	0.000182	T	0.47040	0.1424	L	0.47016	1.485	0.36768	D	0.883668	B;B;B	0.22276	0.067;0.054;0.054	B;B;B	0.43990	0.438;0.206;0.168	T	0.51498	-0.8698	10	0.52906	T	0.07	.	4.8369	0.13469	0.1511:0.6154:0.1465:0.0871	.	86;86;86	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	S	86	ENSP00000411818:P86S;ENSP00000361670:P86S;ENSP00000361666:P86S;ENSP00000361655:P86S	ENSP00000361655:P86S	P	+	1	0	SLC22A7	43374330	0.583000	0.26757	0.313000	0.25210	0.975000	0.68041	1.213000	0.32407	0.660000	0.30964	0.563000	0.77884	CCC			0.642	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000040588.1				T	43266352	C	T	43266352	3	4	34	1	0	0	0	0	1	0	0	0	14482	855	30	3	258	3	SLC22A7	6	43266352	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	2100229	43266352	127848715	10	2372											
HMGN3	9324	broad.mit.edu	37	chr6	79912054	79912054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcctttccagcttcctgcTtttcctccttcttcccttta	2	20	2	17	0	1	0	0	0	1	0	7	0	7	0	6	0	2	2	6	0	1	9			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:79912054T>C	ENST00000344726.5	-	5	328	c.200A>G	c.(199-201)aAg>aGg	p.K67R	HMGN3_ENST00000275036.7_Missense_Mutation_p.K67R	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	67					chromatin modification (GO:0016568)|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 insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		AGCTTCCTGCTTTTCCTCCTT	0.433																																					p.K67R													.	HMGN3	8		0			c.A200G												247	228	235					6																	79912054		2203	4300	6503	SO:0001583	missense	9324	exon5			TCCTGCTTTTCCT	L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"High-mobility group / Canonical"	12312	protein-coding gene	gene with protein product		604502	"thyroid hormone receptor interactor 7"	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.200A>G	6.37:g.79912054T>C	ENSP00000341267:p.Lys67Arg		126	0	0		99	0.04	4	NM_001201362	587	0	0	B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Missense_Mutation	SNP	ENST00000344726.5	37	CCDS4988.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604148	0.46423	.	.	ENSG00000118418	ENST00000344726;ENST00000275036	.	.	.	5.36	5.36	0.76844	.	0.160627	0.56097	D	0.000036	T	0.41789	0.1174	.	.	.	0.44323	D	0.997204	P;P	0.41784	0.762;0.59	B;B	0.42245	0.381;0.263	T	0.37384	-0.9708	7	.	.	.	.	14.6915	0.69091	0.0:0.0:0.0:1.0	.	67;67	Q15651;Q15651-2	HMGN3_HUMAN;.	R	67	.	.	K	-	2	0	HMGN3	79968773	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.864000	0.48404	2.251000	0.74343	0.533000	0.62120	AAG			0.433	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041300.1		NM_004242		C	79912054	T	C	79912054	3	2	34	1	0	0	0	0	1	0	0	0	7251	1609	56	4	107	4	HMGN3	6	79912054	Missense_Mutation	SNP	T	TCGA-2G-AAGN-01A-11D-A42Y-10	36645702	79912054	91203013	11	2373											
HTR1E	3354	hgsc.bcm.edu	37	chr6	87725676	87725676	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattaccggatttaccacgcGgccaagagcctttaccagaa	12	9	8	12	3	0	2	0	0	0	2	0	3	0	3	5	2	4	0	5	2	6	6			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:87725676G>T	ENST00000305344.5	+	2	1327	c.624G>T	c.(622-624)gcG>gcT	p.A208A		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	208			A -> T (in dbSNP:rs3828741).		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A208A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TTTACCACGCGGCCAAGAGCC	0.443																																					p.A208A													HTR1E,NS,carcinoma,+1,4	HTR1E	1	4	1	Substitution - coding silent(1)	large_intestine(1)	c.G624T												89	88	89					6																	87725676		2203	4300	6503	SO:0001819	synonymous_variant	3354	exon2			CCACGCGGCCAAG		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.624G>T	6.37:g.87725676G>T			118	0	0		98	0.04	4	NM_000865	0		0	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																					0.443	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000472488.2		NM_000865		T	87725676	G	T	87725676	2	4	34	1	0	0	0	0	0	0	0	1	7454	1103	39	1		1	HTR1E	6	87725676	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	7813622	87725676	83389391	12	2374											
MAD1L1	8379	mdanderson.org	37	chr7	1976498	1976498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggggttcaggctcatGtgcagcactttggtcctgct	4	13	14	10	0	2	0	2	0	0	0	3	0	3	0	1	5	3	5	1	5	0	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr7:1976498G>T	ENST00000406869.1	-	17	2189	c.1632C>A	c.(1630-1632)caC>caA	p.H544Q	MAD1L1_ENST00000399654.2_Missense_Mutation_p.H544Q|MAD1L1_ENST00000402746.1_Missense_Mutation_p.H452Q|MAD1L1_ENST00000265854.7_Missense_Mutation_p.H544Q			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	544					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCAGGCTCATGTGCAGCACTT	0.657																																					p.H544Q													.	.			0			c.C1632A												33	39	37					7																	1976498		2196	4284	6480	SO:0001583	missense	8379	exon17			GCTCATGTGCAGC	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1632C>A	7.37:g.1976498G>T	ENSP00000385334:p.His544Gln		71	0	0		52	0.06	3	NM_003550	106	0	0	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806866	0.50421	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	4.6	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	M	0.84683	2.71	0.48087	D	0.999588	P;P;P	0.50272	0.924;0.933;0.933	P;P;P	0.49012	0.587;0.513;0.598	T	0.27191	-1.0081	10	0.31617	T	0.26	-36.4877	9.6107	0.39661	0.1141:0.0:0.8859:0.0	.	543;452;544	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	Q	452;544;544;95;544;95	ENSP00000384155:H452Q;ENSP00000382562:H544Q;ENSP00000385334:H544Q;ENSP00000265854:H544Q;ENSP00000394886:H95Q	ENSP00000265854:H544Q	H	-	3	2	MAD1L1	1943024	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	1.879000	0.39618	0.819000	0.34492	-0.378000	0.06908	CAC			0.657	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322871.1		NM_003550		T	1976498	G	T	1976498	3	4	34	1	0	0	0	0	1	0	0	0	9163	1368	48	3	536	3	MAD1L1	7	1976498	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		1976498	157162165	13	2375											
RADIL	55698	mdanderson.org	37	chr7	4841526	4841526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccctcaagggaagagtaCgctccggggccacttcccgg	7	5	12	17	3	1	1	1	0	0	1	3	2	3	2	6	4	1	2	6	4	3	2	rs199920495	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr7:4841526C>T	ENST00000399583.3	-	12	2787	c.2600G>A	c.(2599-2601)cGt>cAt	p.R867H	RADIL_ENST00000538469.1_Missense_Mutation_p.R627H|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	867	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGAAGAGTACGCTCCGGGGC	0.736													C|||	2	0.000399361	0	0.0014	5008	,	,		12778	0		0.001	False		,,,				2504	0				p.R867H													.	.			0			c.G2600A												5	6	5					7																	4841526		1551	3623	5174	SO:0001583	missense	55698	exon12			AGAGTACGCTCCG	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2600G>A	7.37:g.4841526C>T	ENSP00000382492:p.Arg867His		81	0	0		71	0.06	4	NM_018059	17	0	0	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	7.555	0.663481	0.14710	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.06768	3.33;3.26	4.77	-6.29	0.02013	.	1.499190	0.04128	N	0.317511	T	0.02342	0.0072	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.42378	-0.9455	10	0.27785	T	0.31	-0.3238	3.9503	0.09366	0.1365:0.1647:0.1029:0.5959	.	867;175	Q96JH8;Q75LH2	RADIL_HUMAN;.	H	867;838;601;627	ENSP00000382492:R867H;ENSP00000442966:R627H	ENSP00000320946:R838H	R	-	2	0	RADIL	4808052	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.594000	0.05733	-1.045000	0.03250	-1.012000	0.02466	CGT	0		0.736	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323769.2		NM_018059		T	4841526	C	T	4841526	3	4	34	1	0	0	0	0	1	0	0	0	13020	536	19	1	643	1	RADIL	7	4841526	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	2865028	4841526	154297137	14	2376											
PHKG1	5260	mdanderson.org	37	chr7	56148879	56148879	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtaggcgtcgatgagccgGcgcagaggccggagggcata	8	4	19	10	6	0	2	0	1	0	1	1	4	0	3	2	5	1	3	2	5	2	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr7:56148879G>T	ENST00000297373.2	-	10	1226	c.1032C>A	c.(1030-1032)cgC>cgA	p.R344R	PHKG1_ENST00000537360.1_Silent_p.R290R|PHKG1_ENST00000452681.2_Silent_p.R376R|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	344	Calmodulin-binding (domain-C).				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGATGAGCCGGCGCAGAGGCC	0.632																																					p.R376R	Melanoma(184;580 2064 5329 24177 35303)												.	.			0			c.C1128A												61	59	59					7																	56148879		2203	4300	6503	SO:0001819	synonymous_variant	5260	exon11			GAGCCGGCGCAGA	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.1032C>A	7.37:g.56148879G>T			50	0	0		48	0.06	3	NM_001258459	0		0	B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	CCDS5525.1																																																																																					0.632	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251587.1		NM_006213		T	56148879	G	T	56148879	2	4	34	1	0	0	0	0	0	0	0	1	11863	1190	42	2		2	PHKG1	7	56148879	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	51307353	56148879	102989784	15	2377											
GIMAP5	55340	mdanderson.org	37	chr7	150440050	150440050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacaaggcgctcctcagaGtcaaacacttgatgcttttg	11	11	8	11	1	2	2	2	1	0	1	3	2	3	2	1	1	3	2	1	1	3	4			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr7:150440050G>T	ENST00000358647.3	+	3	1190	c.823G>T	c.(823-825)Gtc>Ttc	p.V275F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	275					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)		GCTCCTCAGAGTCAAACACTT	0.408																																					p.V479F													.	.			0			c.G1435T												94	70	78					7																	150440050		2203	4300	6503	SO:0001583	missense	0	exon6			CTCAGAGTCAAAC	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.823G>T	7.37:g.150440050G>T	ENSP00000351473:p.Val275Phe		69	0	0		56	0.05	3	NM_001199577	28	0	0	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297425	0.40694	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05925	3.37	4.12	-1.46	0.08800	.	1.034890	0.07619	N	0.926768	T	0.06234	0.0161	L	0.38175	1.15	0.09310	N	1	P	0.51933	0.949	B	0.43331	0.416	T	0.37979	-0.9682	10	0.56958	D	0.05	.	6.032	0.19684	0.1936:0.4564:0.35:0.0	.	275	Q96F15	GIMA5_HUMAN	F	275;311	ENSP00000351473:V275F	ENSP00000351473:V275F	V	+	1	0	GIMAP5	150070983	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.649000	0.24843	-0.196000	0.10366	-0.312000	0.09012	GTC			0.408	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349108.2		NM_018384		T	150440050	G	T	150440050	3	4	34	1	0	0	0	0	1	0	0	0	6396	1029	36	3	829	3	GIMAP5	7	150440050	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	94291171	150440050	8698613	16	2378											
ANK1	286	broad.mit.edu;mdanderson.org	37	chr8	41575645	41575645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgaccgcgtcgatcgaGgctcccgtcttcagcagcag	6	8	13	14	6	2	1	1	1	1	0	6	3	3	1	2	2	2	3	2	2	0	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr8:41575645G>A	ENST00000347528.4	-	11	1268	c.1185C>T	c.(1183-1185)gcC>gcT	p.A395A	ANK1_ENST00000396942.1_Silent_p.A395A|ANK1_ENST00000289734.7_Silent_p.A395A|ANK1_ENST00000265709.8_Silent_p.A428A|ANK1_ENST00000396945.1_Silent_p.A395A|ANK1_ENST00000379758.2_Silent_p.A395A|ANK1_ENST00000352337.4_Silent_p.A395A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	395	89 kDa 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)			CGTCGATCGAGGCTCCCGTCT	0.597																																					p.A428A													.	ANK1	497		0			c.C1284T												72	63	66					8																	41575645		2203	4300	6503	SO:0001819	synonymous_variant	286	exon11			GATCGAGGCTCCC	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.1185C>T	8.37:g.41575645G>A			42	0.0238095238	1		48	0.08	4	NM_001142446	13	0.08	1	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1																																																																																					0.597	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317297.1		NM_020475		A	41575645	G	A	41575645	2	1	34	1	0	0	0	0	0	0	0	1	620	987	35	3		3	ANK1	8	41575645	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		41575645	104788377	17	2379											
ARHGAP39	80728	mdanderson.org	37	chr8	145830925	145830925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtcggctccttaccgagtGttcgaccctggaatcctcga	6	10	11	14	5	0	0	0	0	0	0	5	4	2	1	4	3	1	2	4	3	2	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr8:145830925G>T	ENST00000276826.5	-	1	276	c.75C>A	c.(73-75)aaC>aaA	p.N25K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N25K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N25K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	25	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTTACCGAGTGTTCGACCCTG	0.607																																					p.N25K													.	.			0			c.C75A												107	85	93					8																	145830925		2203	4300	6503	SO:0001583	missense	80728	exon3			CCGAGTGTTCGAC		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.75C>A	8.37:g.145830925G>T	ENSP00000276826:p.Asn25Lys		55	0	0		42	0.07	3	NM_025251	22	0	0	B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37		.	.	.	.	.	.	.	.	.	.	G	6.918	0.538957	0.13250	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.21543	2.0;2.0;2.0	4.89	0.938	0.19500	WW/Rsp5/WWP (1);	0.597738	0.16341	N	0.218698	T	0.07593	0.0191	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39881	-0.9592	10	0.06494	T	0.89	-3.5655	6.6485	0.22949	0.4081:0.0:0.5919:0.0	.	25;25	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	25	ENSP00000276826:N25K;ENSP00000366522:N25K;ENSP00000445075:N25K	ENSP00000276826:N25K	N	-	3	2	ARHGAP39	145801733	0.959000	0.32827	0.962000	0.40283	0.208000	0.24298	0.086000	0.14935	0.460000	0.27045	0.561000	0.74099	AAC			0.607	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382509.1				T	145830925	G	T	145830925	3	4	34	1	0	0	0	0	1	0	0	0	884	1368	48	3	3313	3	ARHGAP39	8	145830925	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	104255280	145830925	533097	18	2380											
CCBL1	883	mdanderson.org	37	chr9	131598073	131598073	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcacctggctctgcgtgggGcagtggaagacggagttctg	6	10	16	9	2	3	1	1	0	2	1	3	3	3	3	1	5	1	3	1	5	1	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr9:131598073G>A	ENST00000302586.3	-	9	1002	c.840C>T	c.(838-840)tgC>tgT	p.C280C	CCBL1_ENST00000436267.2_Silent_p.C374C|CCBL1_ENST00000320665.6_Silent_p.C230C|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	280					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	TCTGCGTGGGGCAGTGGAAGA	0.652																																					p.C280C													CCBL1,NS,carcinoma,-2,1	CCBL1	-2	1	0			c.C840T												29	32	31					9																	131598073		2016	4185	6201	SO:0001819	synonymous_variant	883	exon9			CGTGGGGCAGTGG	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.840C>T	9.37:g.131598073G>A			45	0.0222222222	1		36	0.08	3	NM_001122671	2	0	0	Q5T275|Q8N191	Silent	SNP	ENST00000302586.3	37	CCDS43884.1																																																																																					0.652	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054521.2				A	131598073	G	A	131598073	2	1	34	1	0	0	0	0	0	0	0	1	2734	1195	42	2		2	CCBL1	9	131598073	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		131598073	9615358	19	2381											
REXO4	57109	mdanderson.org	37	chr9	136277900	136277900	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgagaccagcgtacccGccgaaggcctgctctttcac	7	8	9	17	3	2	1	1	1	1	1	3	3	3	1	5	1	3	2	5	1	2	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr9:136277900G>T	ENST00000371942.3	-	3	913	c.714C>A	c.(712-714)ggC>ggA	p.G238G	REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	238					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CAGCGTACCCGCCGAAGGCCT	0.612																																					p.G238G													.	.			0			c.C714A												76	57	63					9																	136277900		2203	4300	6503	SO:0001819	synonymous_variant	57109	exon3			GTACCCGCCGAAG	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.714C>A	9.37:g.136277900G>T			20	0	0		23	0.09	2	NM_020385	103	0	0	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	ENST00000371942.3	37	CCDS6969.1																																																																																					0.612	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054899.1				T	136277900	G	T	136277900	2	4	34	1	0	0	0	0	0	0	0	1	13266	1074	38	1		1	REXO4	9	136277900	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	4679827	136277900	4935531	20	2382											
NMT2	9397	mdanderson.org	37	chr10	15210531	15210531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccgtctcctcctcattGtccccgtctatcccgcacgt	3	13	6	19	4	3	0	1	0	2	0	8	0	7	0	6	0	1	2	6	0	1	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr10:15210531G>T	ENST00000378165.4	-	1	161	c.81C>A	c.(79-81)gaC>gaA	p.D27E	NMT2_ENST00000378150.1_5'UTR|NMT2_ENST00000535341.1_5'Flank	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	27					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CCTCCTCATTGTCCCCGTCTA	0.736																																					p.D27E	Melanoma(117;1345 1645 4130 12688 30625)												.	.			0			c.C81A												81	81	81					10																	15210531		2203	4300	6503	SO:0001583	missense	9397	exon1			CTCATTGTCCCCG	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.81C>A	10.37:g.15210531G>T	ENSP00000367407:p.Asp27Glu		44	0	0		43	0.09	4	NM_004808	15	0	0	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	g	3.973	-0.007907	0.07773	.	.	ENSG00000152465	ENST00000378165;ENST00000378143	T	0.40476	1.03	2.77	2.77	0.32553	.	0.227863	0.37483	U	0.002067	T	0.19087	0.0458	N	0.14661	0.345	0.80722	D	1	B;B	0.15719	0.001;0.014	B;B	0.10450	0.002;0.005	T	0.11941	-1.0567	10	0.02654	T	1	.	7.9412	0.29959	0.1224:0.0:0.8775:0.0	.	27;27	B2RCF3;O60551	.;NMT2_HUMAN	E	27	ENSP00000367407:D27E	ENSP00000367385:D27E	D	-	3	2	NMT2	15250537	1.000000	0.71417	0.149000	0.22428	0.013000	0.08279	4.420000	0.59841	1.561000	0.49584	0.531000	0.56144	GAC			0.736	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046958.2		NM_004808		T	15210531	G	T	15210531	3	4	34	1	0	0	0	0	1	0	0	0	10521	1368	48	3	1463	3	NMT2	10	15210531	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		15210531	120324216	21	2383											
IFIT3	3437	mdanderson.org	37	chr10	91098885	91098885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaaagggcgaaggtgtGttttgagaaggctctggaag	13	9	16	3	1	1	2	0	2	1	1	1	5	1	3	0	4	0	2	0	4	5	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr10:91098885G>T	ENST00000371818.4	+	2	653	c.473G>T	c.(472-474)tGt>tTt	p.C158F	IFIT3_ENST00000371811.4_Missense_Mutation_p.C158F|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	158					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GCGAAGGTGTGTTTTGAGAAG	0.433																																					p.C158F													.	.			0			c.G473T												77	86	83					10																	91098885		2203	4300	6503	SO:0001583	missense	3437	exon2			AGGTGTGTTTTGA	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.473G>T	10.37:g.91098885G>T	ENSP00000360883:p.Cys158Phe		45	0	0		36	0.08	3	NM_001031683	57	0	0	Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193041	0.58017	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.65178	-0.14;-0.14	4.48	2.63	0.31362	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.159566	0.56097	D	0.000023	T	0.76955	0.4060	M	0.84326	2.69	0.49915	D	0.999835	D	0.71674	0.998	D	0.68943	0.961	T	0.78927	-0.2011	10	0.87932	D	0	-2.2696	10.4609	0.44578	0.1613:0.0:0.8387:0.0	.	158	O14879	IFIT3_HUMAN	F	158	ENSP00000360883:C158F;ENSP00000360876:C158F	ENSP00000360876:C158F	C	+	2	0	IFIT3	91088865	0.721000	0.28007	0.839000	0.33178	0.997000	0.91878	1.087000	0.30865	0.835000	0.34877	0.655000	0.94253	TGT			0.433	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049294.1		NM_001549		T	91098885	G	T	91098885	3	4	34	1	0	0	0	0	1	0	0	0	7539	1377	48	3	488	3	IFIT3	10	91098885	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	75888354	91098885	44435862	22	2384											
DOCK1	1793	mdanderson.org	37	chr10	129249688	129249688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggactccgggatcgtgcaGtgacgtcgcaagcctctctg	6	9	14	12	4	1	1	0	1	1	0	5	3	2	3	2	2	2	2	2	2	1	0			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr10:129249688G>T	ENST00000280333.6	+	52	5704	c.5595G>T	c.(5593-5595)caG>caT	p.Q1865H		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1865					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGATCGTGCAGTGACGTCGCA	0.582																																					p.Q1865H													.	.			0			c.G5595T												38	46	44					10																	129249688		2099	4224	6323	SO:0001583	missense	1793	exon52			CGTGCAGTGACGT	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5595G>T	10.37:g.129249688G>T	ENSP00000280333:p.Gln1865His		25	0	0		41	0.07	3	NM_001380	26	0	0	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.422866	0.83559	.	.	ENSG00000150760	ENST00000280333	T	0.04015	3.73	5.18	5.18	0.71444	.	0.071672	0.56097	D	0.000021	T	0.10594	0.0259	N	0.19112	0.55	0.46458	D	0.999058	D;D	0.61080	0.989;0.989	D;D	0.64237	0.923;0.923	T	0.12604	-1.0541	10	0.87932	D	0	.	15.6337	0.76933	0.0:0.0:1.0:0.0	.	1865;1865	B2RUU3;Q14185	.;DOCK1_HUMAN	H	1865	ENSP00000280333:Q1865H	ENSP00000280333:Q1865H	Q	+	3	2	DOCK1	129139678	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.718000	0.84743	2.418000	0.82041	0.655000	0.94253	CAG			0.582	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000050979.2		NM_001380		T	129249688	G	T	129249688	3	4	34	1	0	0	0	0	1	0	0	0	4689	1020	36	3	5801	3	DOCK1	10	129249688	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	38150803	129249688	6285059	23	2385											
TSPAN4	7106	mdanderson.org	37	chr11	864455	864455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcttcctgctgctgctgCtggtgttcctgctggaggcc	2	14	13	12	0	1	0	0	0	1	0	3	1	3	1	3	3	5	7	3	3	0	3			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_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																																					p.L92V													TSPAN4,NS,carcinoma,0,1	TSPAN4	0	1	0			c.C274G												98	95	96					11																	864455		2203	4299	6502	SO:0001583	missense	7106	exon5			CTGCTGCTGGTGT	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		40	0	0		42	0.07	3	NM_001025237	112	0.01	1	Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	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				G	864455	C	G	864455	3	3	34	1	0	0	0	0	1	0	0	0	16673	796	28	5	284	5	TSPAN4	11	864455	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10		864455	134142061	24	2386											
MUC6	4588	mdanderson.org	37	chr11	1029349	1029349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgctccgtgcacacccagCggcccagggtgcaccggctg	5	4	14	18	4	0	0	0	0	0	0	1	0	1	0	5	3	3	4	5	3	0	0	rs201771202	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:1029349C>T	ENST00000421673.2	-	10	1204	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	385					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)		GCACACCCAGCGGCCCAGGGT	0.701													c|||	2	0.000399361	0	0	5008	,	,		13434	0		0.002	False		,,,				2504	0				p.R385H													.	.			0			c.G1154A							C	HIS/ARG	0,4014		0,0,2007	11	12	12		1154	-2.1	0.7	11		12	5,8281		0,5,4138	no	missense	MUC6	NM_005961.2	29	0,5,6145	TT,TC,CC		0.0603,0.0,0.0407	benign	385/2440	1029349	5,12295	2007	4143	6150	SO:0001583	missense	4588	exon10			ACCCAGCGGCCCA	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.1154G>A	11.37:g.1029349C>T	ENSP00000406861:p.Arg385His		48	0	0		25	0.08	2	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050256	0.36181	0.0	6.03E-4	ENSG00000184956	ENST00000421673	T	0.65732	-0.17	4.56	-2.08	0.07254	.	1.440410	0.05477	N	0.554187	T	0.41743	0.1172	N	0.16790	0.44	0.26569	N	0.973594	B	0.16396	0.017	B	0.06405	0.002	T	0.20538	-1.0272	10	0.32370	T	0.25	.	5.9367	0.19169	0.136:0.2861:0.0:0.578	.	385	Q6W4X9	MUC6_HUMAN	H	385	ENSP00000406861:R385H	ENSP00000406861:R385H	R	-	2	0	MUC6	1019349	0.007000	0.16637	0.711000	0.30485	0.104000	0.19210	-0.102000	0.10956	-0.311000	0.08754	0.313000	0.20887	CGC			0.701	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		T	1029349	C	T	1029349	3	4	34	1	0	0	0	0	1	0	0	0	9996	768	27	1	6261	1	MUC6	11	1029349	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	164894	1029349	133977167	25	2387											
MRGPRF	116535	mdanderson.org	37	chr11	68773371	68773371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcagcgctcggcgctgacgGccggcaggaggctcacgccg	5	3	17	16	8	1	1	1	1	0	0	2	2	1	2	2	5	1	5	2	5	0	0			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:68773371G>T	ENST00000309099.6	-	3	789	c.407C>A	c.(406-408)gCc>gAc	p.A136D	MRGPRF_ENST00000441623.1_Missense_Mutation_p.A136D|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	136						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCGCTGACGGCCGGCAGGAG	0.711																																					p.A136D													.	.			0			c.C407A												13	15	14					11																	68773371		2163	4235	6398	SO:0001583	missense	116535	exon3			CTGACGGCCGGCA	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.407C>A	11.37:g.68773371G>T	ENSP00000309782:p.Ala136Asp		30	0	0		17	0.12	2	NM_001098515	8	0	0	B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204644	0.58234	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.46451	0.87;0.87	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000440	T	0.68586	0.3017	M	0.88450	2.955	0.35706	D	0.816025	D	0.71674	0.998	D	0.77557	0.99	T	0.80756	-0.1240	10	0.87932	D	0	-39.4789	13.5118	0.61517	0.0:0.0:1.0:0.0	.	136	Q96AM1	MRGRF_HUMAN	D	136;136;108	ENSP00000403660:A136D;ENSP00000309782:A136D	ENSP00000309782:A136D	A	-	2	0	MRGPRF	68529947	0.940000	0.31905	0.988000	0.46212	0.307000	0.27823	2.953000	0.49105	2.248000	0.74166	0.561000	0.74099	GCC			0.711	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396875.1		NM_145015		T	68773371	G	T	68773371	3	4	34	1	0	0	0	0	1	0	0	0	9781	1203	42	2	628	2	MRGPRF	11	68773371	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	67744022	68773371	66233145	26	2388											
FOLR3	2352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	71850732	71850732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggagccactccttcaagGtcagcaactatagtcgaggg	10	9	11	11	1	3	0	2	0	1	0	5	2	4	1	2	3	3	1	2	3	4	3			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:71850732G>T	ENST00000445078.2	+	5	786	c.715G>T	c.(715-717)Gtc>Ttc	p.V239F	FOLR3_ENST00000456237.1_Missense_Mutation_p.V241F|FOLR3_ENST00000442948.2_Missense_Mutation_p.V198F			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	197					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CTCCTTCAAGGTCAGCAACTA	0.597																																					.													.	.			0			.												39	42	41					11																	71850732		2200	4293	6493	SO:0001583	missense	2352	.			TTCAAGGTCAGCA	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.715G>T	11.37:g.71850732G>T	ENSP00000390338:p.Val239Phe		161	0	0		185	0.26	49	.	2	0.5	1	J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37		.	.	.	.	.	.	.	.	.	.	N	7.901	0.734368	0.15574	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.79033	-1.23;-1.23;-1.23	2.94	2.94	0.34122	Folate receptor-like (1);	0.354373	0.21954	U	0.066687	T	0.65616	0.2708	.	.	.	0.26957	N	0.965893	B;B	0.27700	0.122;0.186	B;B	0.35688	0.1;0.208	T	0.54282	-0.8317	8	.	.	.	.	7.3434	0.26650	0.0:0.0:0.7387:0.2613	.	241;197	E9PGT2;P41439	.;FOLR3_HUMAN	F	239;241;198	ENSP00000390338:V239F;ENSP00000399235:V241F;ENSP00000411161:V198F	.	V	+	1	0	FOLR3	71528380	0.997000	0.39634	0.964000	0.40570	0.028000	0.11728	1.847000	0.39299	1.638000	0.50547	0.467000	0.42956	GTC			0.597	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding		OTTHUMT00000396739.1		NM_000804		T	71850732	G	T	71850732	3	4	34	1	0	0	0	0	1	0	0	0	5996	1261	44	3	607	3	FOLR3	11	71850732	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	3077361	71850732	63155784	27	2389											
GAB2	9846	ucsc.edu;bcgsc.ca	37	chr11	77938073	77938073	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgagaaaagaggctctGgtgccctgagagaagctggc	11	7	14	9	0	2	4	1	2	1	3	2	6	2	4	1	3	2	2	1	3	3	0			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:77938073G>T	ENST00000361507.4	-	4	730	c.645C>A	c.(643-645)acC>acA	p.T215T	GAB2_ENST00000340149.2_Silent_p.T177T|GAB2_ENST00000526030.1_5'UTR	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	215					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AAGAGGCTCTGGTGCCCTGAG	0.502																																					p.T215T													.	GAB2	63		0			c.C645A												46	42	43					11																	77938073		2200	4292	6492	SO:0001819	synonymous_variant	9846	exon4			GGCTCTGGTGCCC	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.645C>A	11.37:g.77938073G>T			49	0	0		24	0.17	4	NM_080491	1	0	0	A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	CCDS8259.1																																																																																					0.502	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391085.1		NM_080491		T	77938073	G	T	77938073	2	4	34	1	0	0	0	0	0	0	0	1	6162	1335	47	3		3	GAB2	11	77938073	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	6087341	77938073	57068443	28	2390											
ERC1	23085	broad.mit.edu	37	chr12	1292505	1292505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatcctcaggactgaaaaAggactcacggcttaagacac	14	6	10	11	1	2	2	2	1	0	1	3	4	3	4	1	4	0	2	1	4	3	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr12:1292505A>G	ENST00000397203.2	+	11	2481	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R	ERC1_ENST00000355446.5_Missense_Mutation_p.K692R|ERC1_ENST00000543086.3_Missense_Mutation_p.K664R|ERC1_ENST00000360905.4_Missense_Mutation_p.K692R|ERC1_ENST00000546231.2_Missense_Mutation_p.K692R|ERC1_ENST00000589028.1_Missense_Mutation_p.K692R|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	692					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)			GGACTGAAAAAGGACTCACGG	0.363																																					p.K692R													.	ERC1	95		0			c.A2075G												89	88	89					12																	1292505		2203	4300	6503	SO:0001583	missense	23085	exon11			TGAAAAAGGACTC	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.2075A>G	12.37:g.1292505A>G	ENSP00000380386:p.Lys692Arg		382	0.0052356021	2		737	0.01	7	NM_178040	48	0	0	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455744	0.26161	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	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	5.37	5.37	0.77165	.	0.093551	0.64402	D	0.000001	T	0.35595	0.0937	L	0.42686	1.345	0.80722	D	1	B;B;B;B;B	0.16166	0.002;0.016;0.003;0.003;0.001	B;B;B;B;B	0.19666	0.011;0.026;0.008;0.008;0.008	T	0.16041	-1.0416	10	0.11485	T	0.65	-32.4174	15.6887	0.77434	1.0:0.0:0.0:0.0	.	440;332;664;664;692	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	664;692;664;664;392;664;664;392;692;692;692;664;440;332	ENSP00000340054:K664R;ENSP00000380386:K692R;ENSP00000438546:K664R;ENSP00000442976:K392R;ENSP00000442739:K692R;ENSP00000347621:K692R;ENSP00000354158:K692R;ENSP00000410064:K664R	ENSP00000299183:K392R	K	+	2	0	ERC1	1162766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.281000	0.72632	2.170000	0.68504	0.460000	0.39030	AAG			0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064		G	1292505	A	G	1292505	3	3	34	1	0	0	0	0	1	0	0	0	5217	72	3	4	2113	4	ERC1	12	1292505	Missense_Mutation	SNP	A	TCGA-2G-AAGN-01A-11D-A42Y-10		1292505	132559390	29	2391											
C12orf11	55726	broad.mit.edu	37	chr12	27066606	27066606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaattcattccacatgataCggtattgttcatctctgcag	10	15	6	10	1	3	1	2	1	1	0	5	1	4	1	1	1	2	3	1	1	3	7			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr12:27066606C>T	ENST00000261191.7	-	14	2125	c.1589G>A	c.(1588-1590)cGt>cAt	p.R530H	ASUN_ENST00000539625.1_Missense_Mutation_p.R429H	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	530					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)											CCACATGATACGGTATTGTTC	0.358																																					p.R530H													.	.			0			c.G1589A												217	217	217					12																	27066606		2203	4300	6503	SO:0001583	missense	55726	exon14			ATGATACGGTATT	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.1589G>A	12.37:g.27066606C>T	ENSP00000261191:p.Arg530His		97	0	0		141	0.03	4	NM_018164	250	0	0	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011177	0.93346	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745;ENST00000261190	T;T;T	0.65732	-0.17;-0.17;-0.17	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.757	T	0.82575	-0.0389	10	0.87932	D	0	-16.4079	17.2002	0.86903	0.0:1.0:0.0:0.0	.	530;429	Q9NVM9;B4DNK1	M89BB_HUMAN;.	H	177;530;429;117;27	ENSP00000445645:R177H;ENSP00000261191:R530H;ENSP00000443724:R429H	ENSP00000261190:R27H	R	-	2	0	C12orf11	26957873	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	7.490000	0.81461	2.544000	0.85801	0.591000	0.81541	CGT			0.358	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402819.1		NM_018164		T	27066606	C	T	27066606	3	4	34	1	0	0	0	0	1	0	0	0	1677	536	19	1	547	1	C12orf11	12	27066606	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	25774101	27066606	106785289	30	2392											
C12orf42	374470	mdanderson.org	37	chr12	103696285	103696285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctgcagagcgccgggCgtctggctcctcctgcagag	4	8	15	14	3	2	2	0	0	2	2	4	2	4	2	3	2	4	4	3	2	0	0	rs180791755		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr12:103696285C>T	ENST00000378113.2	-	6	909	c.684G>A	c.(682-684)acG>acA	p.T228T	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Silent_p.T228T|C12orf42_ENST00000548048.1_Silent_p.T161T	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	228										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GAGCGCCGGGCGTCTGGCTCC	0.652													C|||	1	0.000199681	0	0	5008	,	,		13275	0		0.001	False		,,,				2504	0				p.T228T													.	.			0			c.G684A												30	35	33					12																	103696285		1953	4148	6101	SO:0001819	synonymous_variant	374470	exon6			GCCGGGCGTCTGG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.684G>A	12.37:g.103696285C>T			32	0	0		50	0.06	3	NM_001099336	1	0	0	Q49A64|Q4G0S2	Silent	SNP	ENST00000378113.2	37	CCDS44963.1																																																																																			0		0.652	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406754.1		NM_198521		T	103696285	C	T	103696285	2	4	34	1	0	0	0	0	0	0	0	1	1690	755	27	1		1	C12orf42	12	103696285	Silent	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	76629679	103696285	30155610	31	2393											
PCDH8	5100	mdanderson.org	37	chr13	53420974	53420974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcctccagcagccggtagGtgacctggccgttgcggccc	4	6	15	16	4	0	1	0	1	0	0	1	1	1	1	6	5	3	3	6	5	1	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr13:53420974G>T	ENST00000377942.3	-	1	1801	c.1598C>A	c.(1597-1599)aCc>aAc	p.T533N	PCDH8_ENST00000338862.4_Missense_Mutation_p.T533N	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	533	Cadherin 5. {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)		CAGCCGGTAGGTGACCTGGCC	0.726																																					p.T533N	GBM(36;25 841 9273 49207)												.	.			0			c.C1598A												3	3	3					13																	53420974		1751	3641	5392	SO:0001583	missense	5100	exon1			CGGTAGGTGACCT	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.1598C>A	13.37:g.53420974G>T	ENSP00000367177:p.Thr533Asn		32	0	0		17	0.12	2	NM_002590	0		0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085931	0.36758	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.53206	0.63;0.63	4.33	4.33	0.51752	Cadherin (4);Cadherin-like (1);	0.000000	0.44097	D	0.000497	T	0.48696	0.1514	M	0.65677	2.01	0.39604	D	0.969771	B;P	0.38677	0.415;0.642	B;B	0.41135	0.142;0.348	T	0.58244	-0.7670	10	0.87932	D	0	.	10.6394	0.45584	0.089:0.0:0.911:0.0	.	533;533	O95206-2;O95206	.;PCDH8_HUMAN	N	533;533;376	ENSP00000367177:T533N;ENSP00000341350:T533N	ENSP00000341350:T533N	T	-	2	0	PCDH8	52318975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.253000	0.43205	2.227000	0.72691	0.561000	0.74099	ACC			0.726	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045108.2		NM_002590		T	53420974	G	T	53420974	3	4	34	1	0	0	0	0	1	0	0	0	11534	1261	44	3	1626	3	PCDH8	13	53420974	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		53420974	61748904	32	2394											
PAPLN	89932	mdanderson.org	37	chr14	73717653	73717653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggactcgtccaagcaGgaggacaagtgtctgcggtg	9	7	16	9	2	1	0	0	0	1	0	3	4	2	3	1	4	3	2	1	4	2	0			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr14:73717653G>T	ENST00000554301.1	+	6	667	c.504G>T	c.(502-504)caG>caT	p.Q168H	PAPLN_ENST00000381166.3_Missense_Mutation_p.Q168H|PAPLN_ENST00000555445.1_Missense_Mutation_p.Q168H|PAPLN_ENST00000427855.1_Missense_Mutation_p.Q168H|PAPLN_ENST00000340738.5_Missense_Mutation_p.Q168H			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	168						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGTCCAAGCAGGAGGACAAGT	0.647																																					p.Q168H													.	.			0			c.G504T												97	80	86					14																	73717653		2203	4300	6503	SO:0001583	missense	89932	exon7			CAAGCAGGAGGAC	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.504G>T	14.37:g.73717653G>T	ENSP00000451803:p.Gln168His		40	0	0		48	0.06	3	NM_173462	1	0	0	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		.	.	.	.	.	.	.	.	.	.	g	19.88	3.910026	0.72983	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	4.48	2.6	0.31112	.	.	.	.	.	T	0.72630	0.3484	L	0.55990	1.75	0.31730	N	0.637176	P;P;D	0.59357	0.606;0.472;0.985	B;B;P	0.58970	0.305;0.161;0.849	T	0.74957	-0.3487	9	0.72032	D	0.01	.	10.4907	0.44750	0.1757:0.0:0.8243:0.0	.	168;168;168	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	H	168	ENSP00000345395:Q168H;ENSP00000403403:Q168H;ENSP00000370558:Q168H;ENSP00000451803:Q168H;ENSP00000451729:Q168H	ENSP00000216658:Q168H	Q	+	3	2	PAPLN	72787406	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.545000	0.53648	1.207000	0.43291	0.550000	0.68814	CAG			0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000413182.1		NM_173462		T	73717653	G	T	73717653	3	4	34	1	0	0	0	0	1	0	0	0	11445	991	35	3	526	3	PAPLN	14	73717653	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		73717653	33631887	33	2395											
C14orf80	283643	mdanderson.org	37	chr14	105964251	105964251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctggtagtgcgggagctGcaggcactggaggaggagct	8	6	19	8	1	0	0	0	0	0	0	0	5	0	4	1	6	4	5	1	6	1	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr14:105964251G>A	ENST00000392523.4	+	8	1216	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L	C14orf80_ENST00000392522.3_Silent_p.L296L|C14orf80_ENST00000354560.6_Silent_p.L263L|C14orf80_ENST00000334656.7_Silent_p.L222L|C14orf80_ENST00000329886.7_Silent_p.L224L|C14orf80_ENST00000392527.1_Silent_p.L222L|C14orf80_ENST00000450383.1_Silent_p.L118L|C14orf80_ENST00000551054.1_3'UTR			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	365										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		TGCGGGAGCTGCAGGCACTGG	0.736																																					p.L296L													.	.			0			c.G888A												18	19	19					14																	105964251		2111	4171	6282	SO:0001819	synonymous_variant	283643	exon7			GGAGCTGCAGGCA		CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.1095G>A	14.37:g.105964251G>A			42	0.0238095238	1		43	0.07	3	NM_001134875	153	0	0	B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Silent	SNP	ENST00000392523.4	37																																																																																						0.736	C14orf80-017	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000409090.1		NM_001134875		A	105964251	G	A	105964251	2	1	34	1	0	0	0	0	0	0	0	1	1783	1306	46	2		2	C14orf80	14	105964251	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	32246598	105964251	1385289	34	2396											
SPTBN5	51332	mdanderson.org	37	chr15	42147796	42147796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgtctgctgcagccGctcgatgcgtgggctgaacg	4	10	15	12	4	1	1	0	1	1	0	2	2	1	1	1	1	7	6	1	1	1	0			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:42147796G>A	ENST00000320955.6	-	54	9396	c.9169C>T	c.(9169-9171)Cgg>Tgg	p.R3057W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3057					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)		TGCTGCAGCCGCTCGATGCGT	0.637																																					p.R3022W													.	.			0			c.C9064T												21	25	24					15																	42147796		2047	4187	6234	SO:0001583	missense	51332	exon54			GCAGCCGCTCGAT	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.9169C>T	15.37:g.42147796G>A	ENSP00000317790:p.Arg3057Trp		46	0	0		55	0.05	3	NM_016642	5	0	0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	12.21	1.868156	0.32977	.	.	ENSG00000137877	ENST00000320955	T	0.51574	0.7	4.7	1.41	0.22369	.	0.665566	0.12929	N	0.427500	T	0.60869	0.2302	L	0.59436	1.845	0.27896	N	0.939157	D	0.76494	0.999	D	0.63192	0.912	T	0.56932	-0.7897	10	0.66056	D	0.02	.	12.9225	0.58241	0.0:0.0:0.3882:0.6118	.	3057	Q9NRC6	SPTN5_HUMAN	W	3057	ENSP00000317790:R3057W	ENSP00000317790:R3057W	R	-	1	2	SPTBN5	39935088	0.962000	0.33011	0.084000	0.20598	0.003000	0.03518	0.874000	0.28065	0.091000	0.17302	-0.152000	0.13540	CGG			0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000420237.1		NM_016642		A	42147796	G	A	42147796	3	1	34	1	0	0	0	0	1	0	0	0	15145	1086	38	1	1915	1	SPTBN5	15	42147796	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		42147796	60383596	35	2397											
TGM7	116179	broad.mit.edu	37	chr15	43571977	43571977	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctctggatacgcagcagCagctgcaggtcctggcccca	8	6	11	16	1	1	0	0	0	1	0	2	1	2	1	4	3	5	5	4	3	1	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:43571977C>A	ENST00000452443.2	-	10	1528	c.1524G>T	c.(1522-1524)ctG>ctT	p.L508L		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	508					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-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;9.14e-07)	L-Glutamine(DB00130)	TACGCAGCAGCAGCTGCAGGT	0.657																																					p.L508L													TGM7,NS,carcinoma,0,2	TGM7	86	2	0			c.G1524T												38	44	42					15																	43571977		2201	4297	6498	SO:0001819	synonymous_variant	116179	exon10			CAGCAGCAGCTGC	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1524G>T	15.37:g.43571977C>A			41	0.0731707317	3		57	0.11	6	NM_052955	0		0		Silent	SNP	ENST00000452443.2	37	CCDS32213.1																																																																																					0.657	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432489.1		NM_052955		A	43571977	C	A	43571977	2	1	34	1	0	0	0	0	0	0	0	1	15858	697	25	2		2	TGM7	15	43571977	Silent	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	1424181	43571977	58959415	36	2398											
CLK3	1198	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr15	74911680	74911680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccccacgaagatctcGgtccagaaggtgagagggaa	11	5	13	12	2	1	3	0	1	1	3	4	6	3	4	4	3	0	0	4	3	3	0	rs183588535	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:74911680G>T	ENST00000395066.3	+	2	1048	c.587G>T	c.(586-588)cGg>cTg	p.R196L	CLK3_ENST00000348245.3_Missense_Mutation_p.R48L|CLK3_ENST00000345005.4_Missense_Mutation_p.R48L|CLK3_ENST00000352989.5_Missense_Mutation_p.R48L	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	196	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CGAAGATCTCGGTCCAGAAGG	0.572																																					p.R196L	Ovarian(133;694 1754 28950 29027 31859)												.	.			0			c.G587T												100	88	92					15																	74911680		2197	4296	6493	SO:0001583	missense	1198	exon2			GATCTCGGTCCAG	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.587G>T	15.37:g.74911680G>T	ENSP00000378505:p.Arg196Leu		87	0	0		80	0.05	4	NM_001130028	102	0	0	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547314	0.86022	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.51574	0.7;0.7	4.74	4.74	0.60224	.	0.191389	0.36200	N	0.002737	T	0.56001	0.1956	L	0.27053	0.805	0.43435	D	0.9956	D;D;D	0.76494	0.993;0.999;0.978	D;D;P	0.81914	0.982;0.995;0.858	T	0.59225	-0.7494	10	0.56958	D	0.05	.	15.699	0.77528	0.0:0.0:1.0:0.0	.	196;196;48	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	L	48;48;196;48;48	ENSP00000344112:R48L;ENSP00000323106:R48L	ENSP00000344112:R48L	R	+	2	0	CLK3	72698733	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	4.576000	0.60915	2.464000	0.83262	0.655000	0.94253	CGG			0.572	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000390442.3				T	74911680	G	T	74911680	3	4	34	1	0	0	0	0	1	0	0	0	3540	1116	39	1	593	1	CLK3	15	74911680	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	31339703	74911680	27619712	37	2399											
TTLL13	440307	mdanderson.org	37	chr15	90793911	90793911	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagaggaagactatgttGaggaaaaggaatctgagaag	18	7	13	3	0	2	4	1	2	1	3	2	8	2	7	0	3	0	1	0	3	7	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:90793911G>T	ENST00000561573.1	+	2	313	c.49G>T	c.(49-51)Gag>Tag	p.E17*	TTLL13_ENST00000339615.5_Nonsense_Mutation_p.E17*|TTLL13_ENST00000438251.1_Nonsense_Mutation_p.E17*																							AGACTATGTTGAGGAAAAGGA	0.448																																					p.E17X													.	.			0			c.G49T												96	94	95					15																	90793911		2199	4298	6497	SO:0001587	stop_gained	440307	exon2			TATGTTGAGGAAA																												ENST00000561573.1:c.49G>T	15.37:g.90793911G>T	ENSP00000456615:p.Glu17*		69	0.0144927536	1		90	0.06	5	NM_001029964	0		0		Nonsense_Mutation	SNP	ENST00000561573.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.307673	0.95629	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	.	.	.	5.05	5.05	0.67936	.	1.097450	0.07347	U	0.881750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	14.2299	0.65885	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000345294:E17X	E	+	1	0	TTLL13	88594915	1.000000	0.71417	0.949000	0.38748	0.277000	0.26821	4.083000	0.57643	2.514000	0.84764	0.491000	0.48974	GAG			0.448	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding		OTTHUMT00000435855.1				T	90793911	G	T	90793911	4	4	34	1	0	0	0	0	0	1	0	0	16750	1291	45	3	51	3	TTLL13	15	90793911	Nonsense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	15882231	90793911	11737481	38	2400											
SEPHS2	22928	mdanderson.org	37	chr16	30456678	30456678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccgtgcctcagggggAtgacgcaggagtccatcccg	6	5	15	15	3	1	1	1	1	0	0	3	3	3	3	5	4	1	1	5	4	0	0			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr16:30456678A>G	ENST00000478753.2	-	1	824	c.371T>C	c.(370-372)aTc>aCc	p.I124T	SEPHS2_ENST00000542752.1_Missense_Mutation_p.I67T|SEPHS2_ENST00000500504.2_Missense_Mutation_p.I124T			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	124					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CCTCAGGGGGATGACGCAGGA	0.652																																					.	Esophageal Squamous(81;1142 1261 11202 24614 35697)												.	.			0			.												25	26	26					16																	30456678		1923	4109	6032	SO:0001583	missense	22928	.			AGGGGGATGACGC	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.371T>C	16.37:g.30456678A>G	ENSP00000418669:p.Ile124Thr		36	0	0		44	0.07	3	.	253	0	1	Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	A	15.59	2.878727	0.51801	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.35789	1.29;1.29;1.29	5.46	5.46	0.80206	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.051260	0.85682	D	0.000000	T	0.31949	0.0813	L	0.31926	0.97	0.80722	D	1	B;B	0.26147	0.04;0.143	B;B	0.33690	0.088;0.168	T	0.09530	-1.0670	10	0.27785	T	0.31	-20.8829	13.7915	0.63143	1.0:0.0:0.0:0.0	.	124;67	Q99611;F5H8F9	SPS2_HUMAN;.	T	124;67;75;124	ENSP00000418669:I124T;ENSP00000443601:I67T;ENSP00000426234:I124T	ENSP00000390233:I75T	I	-	2	0	SEPHS2	30364179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.822000	0.69265	2.201000	0.70794	0.533000	0.62120	ATC			0.652	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding		OTTHUMT00000109640.11		NM_012248		G	30456678	A	G	30456678	3	3	34	1	0	0	0	0	1	0	0	0	14078	333	12	4	979	4	SEPHS2	16	30456678	Missense_Mutation	SNP	A	TCGA-2G-AAGN-01A-11D-A42Y-10		30456678	59898075	39	2401											
CBFA2T3	863	mdanderson.org	37	chr16	88943658	88943658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccgctgcacgtctcactgGctttccgcccgcagttccag	5	9	10	17	4	1	0	1	0	1	0	4	0	3	0	4	1	2	5	4	1	0	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr16:88943658G>T	ENST00000268679.4	-	12	2084	c.1688C>A	c.(1687-1689)gCc>gAc	p.A563D	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A477D|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.A487D|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A525D|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A477D	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	563					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTCTCACTGGCTTTCCGCCC	0.662			T	RUNX1	AML																																p.A563D				Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	.	.			0			c.C1688A												8	7	7					16																	88943658		2138	4217	6355	SO:0001583	missense	863	exon12			TCACTGGCTTTCC	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1688C>A	16.37:g.88943658G>T	ENSP00000268679:p.Ala563Asp		40	0	0		45	0.07	3	NM_005187	5	0	0	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587297	0.66105	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.58358	1.0;0.34;0.38;1.0;1.0	4.3	4.3	0.51218	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76732	-0.2851	10	0.87932	D	0	-26.0808	16.9595	0.86268	0.0:0.0:1.0:0.0	.	563;477	O75081;O75081-2	MTG16_HUMAN;.	D	477;563;525;487;477	ENSP00000332122:A477D;ENSP00000268679:A563D;ENSP00000395739:A525D;ENSP00000401254:A487D;ENSP00000353449:A477D	ENSP00000268679:A563D	A	-	2	0	CBFA2T3	87471159	1.000000	0.71417	0.999000	0.59377	0.029000	0.11900	9.233000	0.95337	2.215000	0.71742	0.561000	0.74099	GCC			0.662	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000269545.2		NM_005187		T	88943658	G	T	88943658	3	4	34	1	0	0	0	0	1	0	0	0	2700	1203	42	2	277	2	CBFA2T3	16	88943658	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	58486980	88943658	1411095	40	2402											
SPEM1	374768	broad.mit.edu	37	chr17	7324624	7324624	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatcctgtgaaccccccAcctcccagccctgaggctcc	6	8	8	19	0	0	2	0	2	0	0	3	2	3	2	8	1	2	2	8	1	2	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:7324624A>C	ENST00000323675.3	+	3	655	c.630A>C	c.(628-630)ccA>ccC	p.P210P	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	210	Poly-Pro.				sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TGAACCCCCCACCTCCCAGCC	0.637																																					p.P210P													.	SPEM1	41		0			c.A630C												34	39	38					17																	7324624		1928	4130	6058	SO:0001819	synonymous_variant	374768	exon3			CCCCCCACCTCCC	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.630A>C	17.37:g.7324624A>C			68	0.1911764706	13		67	0.25	17	NM_199339	0		0		Silent	SNP	ENST00000323675.3	37	CCDS42254.1																																																																																					0.637	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440932.1		NM_199339		C	7324624	A	C	7324624	2	2	34	1	0	0	0	0	0	0	0	1	15060	146	6	4		4	SPEM1	17	7324624	Silent	SNP	A	TCGA-2G-AAGN-01A-11D-A42Y-10		7324624	73870586	41	2403											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		244	0.0573770492	14		203	0.05	11	NM_145301	64	0.45	29	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	34	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	8132463	15457087	65738123	42	2404											
LRRC37A3	374819	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr17	62892947	62892947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcttcttgggcgaaacaggGagcctttcctgtggactcag	8	10	13	10	1	2	0	1	0	1	0	3	3	3	2	2	3	3	1	2	3	1	3			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:62892947G>A	ENST00000584306.1	-	3	959	c.429C>T	c.(427-429)ctC>ctT	p.L143L	LRRC37A3_ENST00000319651.5_Silent_p.L143L|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.2_ENST00000581622.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	143						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCGAAACAGGGAGCCTTTCCT	0.507																																					p.L143L													.	.			0			c.C429T												24	43	37					17																	62892947		1623	3409	5032	SO:0001819	synonymous_variant	374819	exon3			AACAGGGAGCCTT	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.429C>T	17.37:g.62892947G>A			643	0	0		695	0.08	53	NM_199340	0		0	Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	CCDS32708.1																																																																																					0.507	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445377.1		NM_199340		A	62892947	G	A	62892947	2	1	34	1	0	0	0	0	0	0	0	1	9009	1161	41	3		3	LRRC37A3	17	62892947	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	47435860	62892947	18302263	43	2405											
ABCA6	23460	mdanderson.org	37	chr17	67084386	67084386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaaaacgaatagcaaaGtctgaaagtagggctatgag	19	6	11	5	1	1	2	0	2	1	0	1	4	1	2	0	1	3	3	0	1	9	3			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:67084386G>T	ENST00000284425.2	-	28	3794	c.3620C>A	c.(3619-3621)aCt>aAt	p.T1207N	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1207					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)					GAATAGCAAAGTCTGAAAGTA	0.308																																					p.T1207N													.	.			0			c.C3620A												80	76	78					17																	67084386		2203	4300	6503	SO:0001583	missense	23460	exon28			AGCAAAGTCTGAA	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.3620C>A	17.37:g.67084386G>T	ENSP00000284425:p.Thr1207Asn		53	0	0		53	0.06	3	NM_080284	0		0	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920262	0.17982	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.86366	-2.11	4.68	1.16	0.20824	.	0.914310	0.09001	N	0.862935	T	0.80465	0.4628	L	0.29908	0.895	0.80722	D	1	B	0.20261	0.043	B	0.32022	0.139	T	0.72257	-0.4346	10	0.49607	T	0.09	.	5.3963	0.16271	0.2042:0.4101:0.3857:0.0	.	1207	Q8N139	ABCA6_HUMAN	N	1207;67	ENSP00000284425:T1207N	ENSP00000284425:T1207N	T	-	2	0	ABCA6	64595981	0.025000	0.19082	0.561000	0.28357	0.279000	0.26890	0.517000	0.22832	0.618000	0.30179	0.462000	0.41574	ACT			0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450463.1		NM_080284		T	67084386	G	T	67084386	3	4	34	1	0	0	0	0	1	0	0	0	36	1029	36	3	1281	3	ABCA6	17	67084386	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	4191439	67084386	14110824	44	2406											
TSPAN10	83882	mdanderson.org	37	chr17	79612324	79612324	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggaagtgatctgggggggCccctgcccgcagaccccatg	6	6	16	13	1	1	2	0	1	1	1	1	3	1	3	5	4	1	1	5	4	1	0			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:79612324C>G	ENST00000572675.1	+	0	343				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTGGGGGGGCCCCTGCCCGC	0.692																																					.													TSPAN10_ENST00000328585,caecum,carcinoma,0,1	TSPAN10_ENST00000328585	0	1	0			.												25	31	29					17																	79612324		1909	4115	6024			83882	.			GGGGGGCCCCTGC	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"Tetraspanins"	29942	protein-coding gene	gene with protein product	"oculospanin"					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612324C>G			38	0	0		35	0.09	3	.	0		0	Q8N548	Missense_Mutation	SNP	ENST00000572675.1	37		.	.	.	.	.	.	.	.	.	.	C	0.092	-1.166237	0.01673	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.78246	-1.16	4.3	-0.241	0.13043	.	0.782647	0.11946	N	0.514143	T	0.50786	0.1636	N	0.16368	0.405	0.09310	N	1	B;B	0.21520	0.057;0.002	B;B	0.18561	0.022;0.012	T	0.35968	-0.9767	10	0.06099	T	0.92	-10.513	1.7831	0.03036	0.1264:0.4366:0.1342:0.3028	.	115;115	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	A	115	ENSP00000331620:P115A	ENSP00000331620:P115A	P	+	1	0	TSPAN10	77222729	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.919000	0.04017	-0.149000	0.11215	0.462000	0.41574	CCC			0.692	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000440313.1		NM_031945		G	79612324	C	G	79612324	1	3	34	0	1	0	0	0	0	0	0	0	16658	739	26	5		5	TSPAN10	17	79612324	RNA	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	12527938	79612324	1582886	45	2407											
C17orf101	79701	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	80350394	80350396	+	In_Frame_Del	DEL	GAA	GAA	-																															aggttctcggaccccgaggtGaagaaggagacgcgacctgg																										TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	GAA	GAA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:80350394_80350396delGAA	ENST00000313056.5	-	9	989_991	c.838_840delTTC	c.(838-840)ttcdel	p.F280del	OGFOD3_ENST00000578287.1_5'UTR|OGFOD3_ENST00000329197.5_3'UTR	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	280	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	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)										ACCCCGAGGTGAAGAAGGAGACG	0.621																																					p.280_281del													.	.			0			c.839_841del																																									SO:0001651	inframe_deletion	79701	exon9			CGAGGTGAAGAAG	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.838_840delTTC	17.37:g.80350397_80350399delGAA	ENSP00000320116:p.Phe280del		94	0	0		112	0.13	14	NM_024648	105	0	0	C9JDC8|Q8IZ37|Q9H6J2	In_Frame_Del	DEL	ENST00000313056.5	37	CCDS11811.1																																																																																					0.621	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442895.1		NM_175902		-	80350396	GAA	-	80350394	7	5	34	1	0	1	0	1	0	0	0	0	1850	1281	45	0	123	0	C17orf101	17	80350394	In_Frame_Del	DEL	GAA	TCGA-2G-AAGN-01A-11D-A42Y-10	738070	80350394	844816	46	2408											
ROCK1	6093	mdanderson.org	37	chr18	18600140	18600140	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctccatttcatcttttaActgcatttcattatgcagct	8	18	4	11	0	3	0	2	0	1	0	4	0	4	0	1	0	5	4	1	0	2	5			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr18:18600140A>T	ENST00000399799.2	-	12	2273	c.1333T>A	c.(1333-1335)Tta>Ata	p.L445I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	445	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCATCTTTTAACTGCATTTCA	0.289																																					p.L445I													.	.			0			c.T1333A												83	77	79					18																	18600140		2202	4292	6494	SO:0001583	missense	6093	exon12			CTTTTAACTGCAT		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1333T>A	18.37:g.18600140A>T	ENSP00000382697:p.Leu445Ile		65	0	0		27	0.11	3	NM_005406	17	0	0	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457575	0.43634	.	.	ENSG00000067900	ENST00000399799	D	0.82984	-1.67	5.8	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.79592	0.4472	M	0.68317	2.08	0.45439	D	0.998413	B	0.19817	0.039	B	0.14023	0.01	T	0.74321	-0.3703	10	0.42905	T	0.14	.	9.3567	0.38171	0.8065:0.0:0.1935:0.0	.	445	Q13464	ROCK1_HUMAN	I	445	ENSP00000382697:L445I	ENSP00000382697:L445I	L	-	1	2	ROCK1	16854138	0.067000	0.21026	0.994000	0.49952	0.993000	0.82548	0.188000	0.17018	1.026000	0.39733	0.460000	0.39030	TTA			0.289	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254641.2		NM_005406		T	18600140	A	T	18600140	3	4	34	1	0	0	0	0	1	0	0	0	13540	40	2	5	2819	5	ROCK1	18	18600140	Missense_Mutation	SNP	A	TCGA-2G-AAGN-01A-11D-A42Y-10		18600140	59477108	47	2409											
FAM108A1	81926	hgsc.bcm.edu	37	chr19	1881395	1881395	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgcgcccgaggaggcTctcagggtccccaagggggc	5	4	18	14	3	1	0	1	0	1	0	3	2	2	1	4	6	1	1	4	6	1	0	rs199929215	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:1881395T>C	ENST00000292577.7	-	2	604	c.171A>G	c.(169-171)agA>agG	p.R57R	ABHD17A_ENST00000250974.9_Silent_p.R57R|ABHD17A_ENST00000590661.1_Silent_p.R57R	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	57						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.R57R(1)									CCGAGGAGGCTCTCAGGGTCC	0.726																																					p.R57R													FAM108A1,NS,carcinoma,0,3	FAM108A1	0	3	1	Substitution - coding silent(1)	prostate(1)	c.A171G												7	10	9					19																	1881395		1880	3957	5837	SO:0001819	synonymous_variant	81926	exon2			GGAGGCTCTCAGG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.171A>G	19.37:g.1881395T>C			14	0.0714285714	1		14	0.36	5	NM_031213	63	0.02	1	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																			0.01		0.726	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415556.2		NM_031213		C	1881395	T	C	1881395	2	2	34	1	0	0	0	0	0	0	0	1	5401	1548	54	4		4	FAM108A1	19	1881395	Silent	SNP	T	TCGA-2G-AAGN-01A-11D-A42Y-10		1881395	57247588	48	2410											
SEMA6B	10501	mdanderson.org	37	chr19	4555021	4555021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcatgtttcacggtgcGcagggtgggcctgtccccga	5	9	16	11	3	2	0	2	0	0	0	3	2	3	1	3	4	1	2	3	4	0	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:4555021G>A	ENST00000586582.1	-	8	959	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SEMA6B_ENST00000301293.3_Missense_Mutation_p.R217C|SEMA6B_ENST00000586965.1_Missense_Mutation_p.R217C	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	217	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)		TTCACGGTGCGCAGGGTGGGC	0.582																																					p.R217C													.	.			0			c.C649T												113	97	102					19																	4555021		2203	4300	6503	SO:0001583	missense	10501	exon8			CGGTGCGCAGGGT	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.649C>T	19.37:g.4555021G>A	ENSP00000467290:p.Arg217Cys		76	0	0		56	0.05	3	NM_032108	33	0	0	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.200796	0.79015	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.13657	2.57	3.1	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.058698	0.64402	D	0.000003	T	0.47002	0.1422	H	0.95950	3.745	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60757	-0.7200	10	0.87932	D	0	.	10.9401	0.47268	0.0:0.0:0.8103:0.1897	.	217;217	B4DT36;Q9H3T3	.;SEM6B_HUMAN	C	217	ENSP00000301293:R217C	ENSP00000301292:R217C	R	-	1	0	SEMA6B	4506021	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.253000	0.58791	0.849000	0.35215	0.455000	0.32223	CGC			0.582	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458656.2		NM_032108		A	4555021	G	A	4555021	3	1	34	1	0	0	0	0	1	0	0	0	14063	1087	38	1	2057	1	SEMA6B	19	4555021	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	2673626	4555021	54573962	49	2411											
KANK2	25959	mdanderson.org	37	chr19	11303936	11303936	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaggcatgcccaagtcccGttctcgaacccaggtgccca	9	7	9	16	2	2	0	1	0	1	0	4	1	3	0	4	2	3	2	4	2	2	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:11303936G>T	ENST00000586659.1	-	4	1134	c.820C>A	c.(820-822)Cgg>Agg	p.R274R	KANK2_ENST00000589894.1_Silent_p.R274R|KANK2_ENST00000355150.5_Silent_p.R274R|KANK2_ENST00000432929.2_Silent_p.R274R|KANK2_ENST00000589359.1_Silent_p.R274R			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	274					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						CCCAAGTCCCGTTCTCGAACC	0.687																																					p.R274R													.	.			0			c.C820A												26	28	27					19																	11303936		2198	4296	6494	SO:0001819	synonymous_variant	25959	exon2			AGTCCCGTTCTCG	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.820C>A	19.37:g.11303936G>T			30	0	0		26	0.08	2	NM_015493	8	0	0	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																					0.687	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000453066.2		NM_015493		T	11303936	G	T	11303936	2	4	34	1	0	0	0	0	0	0	0	1	7992	1144	40	1		1	KANK2	19	11303936	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	6748915	11303936	47825047	50	2412											
WIZ	58525	mdanderson.org	37	chr19	15535768	15535768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgccgaactgccgcaggTgtgcccgtgcgtggctggcc	4	7	15	15	5	1	0	1	0	0	0	1	1	1	0	4	3	4	2	4	3	1	0			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:15535768T>C	ENST00000389282.4	-	8	4469	c.4256A>G	c.(4255-4257)cAc>cGc	p.H1419R	WIZ_ENST00000545156.1_Missense_Mutation_p.H733R|WIZ_ENST00000599686.3_Missense_Mutation_p.H603R|WIZ_ENST00000599910.2_Missense_Mutation_p.H736R|WIZ_ENST00000263381.7_Missense_Mutation_p.H562R			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1419					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGCCGCAGGTGTGCCCGTGC	0.667																																					p.H562R													.	.			0			c.A1685G												11	13	12					19																	15535768		2056	4195	6251	SO:0001583	missense	58525	exon6			CGCAGGTGTGCCC	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4256A>G	19.37:g.15535768T>C	ENSP00000373933:p.His1419Arg		45	0	0		45	0.11	5	NM_021241	59	0	0	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37		.	.	.	.	.	.	.	.	.	.	T	19.06	3.754179	0.69648	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	D;D;D	0.88975	-2.45;-2.45;-2.45	5.35	4.29	0.51040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.050115	0.85682	D	0.000000	D	0.92391	0.7585	L	0.57536	1.79	0.46044	D	0.998834	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.977;0.998;0.999	D	0.92025	0.5629	10	0.87932	D	0	-21.7922	11.2383	0.48953	0.0:0.0:0.1539:0.8461	.	1419;562;603	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	R	1419;562;603;733	ENSP00000373933:H1419R;ENSP00000263381:H562R;ENSP00000445824:H733R	ENSP00000263381:H562R	H	-	2	0	WIZ	15396768	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.871000	0.69628	0.820000	0.34516	0.528000	0.53228	CAC			0.667	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_021241		C	15535768	T	C	15535768	3	2	34	1	0	0	0	0	1	0	0	0	17399	1696	59	4	711	4	WIZ	19	15535768	Missense_Mutation	SNP	T	TCGA-2G-AAGN-01A-11D-A42Y-10	4231832	15535768	43593215	51	2413											
ABHD8	79575	mdanderson.org	37	chr19	17405202	17405202	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtagacctcgtcgccctcGggccagtactggccgctcat	5	9	12	15	4	1	1	1	0	0	1	4	1	1	1	4	3	1	3	4	3	2	2	rs556911878		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:17405202G>T	ENST00000247706.3	-	4	1283	c.1044C>A	c.(1042-1044)ccC>ccA	p.P348P	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	348							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGTCGCCCTCGGGCCAGTACT	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		17156	0		0	False		,,,				2504	0				p.P348P	Ovarian(156;1368 2543 15275 41187)												.	.			0			c.C1044A												126	100	109					19																	17405202		2203	4300	6503	SO:0001819	synonymous_variant	79575	exon4			GCCCTCGGGCCAG	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1044C>A	19.37:g.17405202G>T			44	0	0		45	0.07	3	NM_024527	3	0	0	Q9HAE9	Silent	SNP	ENST00000247706.3	37	CCDS12355.1																																																																																					0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462937.1		NM_024527		T	17405202	G	T	17405202	2	4	34	1	0	0	0	0	0	0	0	1	87	1103	39	1		1	ABHD8	19	17405202	Silent	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	1869434	17405202	41723781	52	2414											
PGLS	25796	mdanderson.org	37	chr19	17622540	17622540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttcccaggagctgggtgCggcgctagcgcagctggtgg	5	7	19	10	3	0	0	0	0	0	0	1	2	1	1	1	5	4	5	1	5	1	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:17622540C>T	ENST00000252603.2	+	1	103	c.59C>T	c.(58-60)gCg>gTg	p.A20V	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	20					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						GAGCTGGGTGCGGCGCTAGCG	0.756																																					p.A20V													.	.			0			c.C59T												2	2	2					19																	17622540		1670	3415	5085	SO:0001583	missense	25796	exon1			TGGGTGCGGCGCT	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.59C>T	19.37:g.17622540C>T	ENSP00000252603:p.Ala20Val		20	0	0		21	0.1	2	NM_012088	31	0	0		Missense_Mutation	SNP	ENST00000252603.2	37	CCDS12361.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593697	0.66219	.	.	ENSG00000130313	ENST00000252603	T	0.45668	0.89	4.91	2.27	0.28462	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.394213	0.26684	N	0.023024	T	0.27384	0.0672	L	0.35644	1.08	0.22552	N	0.999	B	0.11235	0.004	B	0.08055	0.003	T	0.10941	-1.0608	10	0.30078	T	0.28	-16.4274	5.8477	0.18675	0.1947:0.6891:0.0:0.1162	.	20	O95336	6PGL_HUMAN	V	20	ENSP00000252603:A20V	ENSP00000252603:A20V	A	+	2	0	PGLS	17483540	0.997000	0.39634	0.704000	0.30370	0.723000	0.41478	4.032000	0.57274	0.993000	0.38866	0.491000	0.48974	GCG			0.756	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464154.1				T	17622540	C	T	17622540	3	4	34	1	0	0	0	0	1	0	0	0	11809	768	27	1	61	1	PGLS	19	17622540	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	217338	17622540	41506443	53	2415											
MLL4	9757	mdanderson.org	37	chr19	36219739	36219739	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctatgcgcagtggagacagCaggaaccagagaccccagaa	14	4	12	11	1	1	3	0	0	1	3	1	6	1	4	3	2	3	2	3	2	3	1	rs369588398		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:36219739C>T	ENST00000222270.7	+	20	4636	c.4636C>T	c.(4636-4638)Cag>Tag	p.Q1546*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.Q1546*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1546					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)										GTGGAGACAGCAGGAACCAGA	0.617																																					p.Q1546X													.	.			0			c.C4636T												54	59	57					19																	36219739		2030	4182	6212	SO:0001587	stop_gained	8085	exon20			AGACAGCAGGAAC	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.4636C>T	19.37:g.36219739C>T	ENSP00000222270:p.Gln1546*		101	0	0		63	0.06	4	NM_014727	44	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	43	9.980273	0.99309	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	4.91	3.86	0.44501	.	0.000000	0.40554	N	0.001071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.4152	0.38517	0.1628:0.68:0.1572:0.0	.	.	.	.	X	1546	.	ENSP00000222270:Q1546X	Q	+	1	0	AD000671.1	40911579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.275000	0.51639	1.271000	0.44313	0.655000	0.94253	CAG			0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_014727		T	36219739	C	T	36219739	4	4	34	1	0	0	0	0	0	1	0	0	9639	711	25	2	4714	2	MLL4	19	36219739	Nonsense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	18597199	36219739	22909244	54	2416											
LRFN1	57622	broad.mit.edu	37	chr19	39804795	39804795	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggcagccggcgggggTgccatcagaggcagaggtac	7	3	21	10	3	1	2	1	0	0	2	1	2	1	2	2	8	3	3	2	8	1	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:39804795T>G	ENST00000248668.4	-	1	1181	c.1182A>C	c.(1180-1182)gcA>gcC	p.A394A	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	394						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.A346A(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCGGCGGGGGTGCCATCAGAG	0.687																																					p.A394A													LRFN1,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	LRFN1	59	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.A1182C												16	21	19					19																	39804795		2126	4221	6347	SO:0001819	synonymous_variant	57622	exon1			CGGGGGTGCCATC	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1182A>C	19.37:g.39804795T>G			48	0.1458333333	7		36	0.22	8	NM_020862	3	0	0	Q8TBS9	Silent	SNP	ENST00000248668.4	37	CCDS46071.1																																																																																					0.687	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463835.1		NM_020862		G	39804795	T	G	39804795	2	3	34	1	0	0	0	0	0	0	0	1	8953	1683	59	4		4	LRFN1	19	39804795	Silent	SNP	T	TCGA-2G-AAGN-01A-11D-A42Y-10	3585056	39804795	19324188	55	2417											
TPRX1	284355	broad.mit.edu	37	chr19	48305622	48305622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctgggtttgggcctgAgattgggcctgagattgggc	4	10	19	8	1	0	2	0	2	0	2	0	4	0	2	3	5	0	1	3	5	0	3	rs201007421		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:48305622A>G	ENST00000322175.3	-	2	801	c.646T>C	c.(646-648)Tca>Cca	p.S216P	TPRX1_ENST00000535759.1_Missense_Mutation_p.S313P|TPRX1_ENST00000543508.1_Missense_Mutation_p.S206P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	216	Gly-rich.					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)		tttgggcctgagattgggcct	0.667																																					p.S216P	Esophageal Squamous(123;175 2281 3051 32395)												TPRX1,caecum,carcinoma,0,2	TPRX1	46	2	0			c.T646C																																									SO:0001583	missense	284355	exon2			GGCCTGAGATTGG		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.646T>C	19.37:g.48305622A>G	ENSP00000323455:p.Ser216Pro		43	0.023255814	1		30	0.13	4	NM_198479	5	0	0	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.036234	0.00406	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	T;T;T	0.19250	2.16;2.16;2.16	0.365	-0.73	0.11154	.	.	.	.	.	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40701	-0.9549	8	0.02654	T	1	.	.	.	.	.	216	Q8N7U7	TPRX1_HUMAN	P	216;313;206	ENSP00000323455:S216P;ENSP00000438832:S313P;ENSP00000438712:S206P	ENSP00000323455:S216P	S	-	1	0	TPRX1	52997434	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.826000	0.27407	-2.735000	0.00382	-2.728000	0.00130	TCA			0.667	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000409868.1		NM_198479		G	48305622	A	G	48305622	3	3	34	1	0	0	0	0	1	0	0	0	16446	304	11	4	593	4	TPRX1	19	48305622	Missense_Mutation	SNP	A	TCGA-2G-AAGN-01A-11D-A42Y-10	8500827	48305622	10823361	56	2418											
HAS1	3036	mdanderson.org	37	chr19	52216945	52216945	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagcttccgccggcccGaggtgccccagccactctgg	4	5	13	19	4	1	0	0	0	1	0	2	1	2	0	7	4	3	1	7	4	0	1	rs367672882		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:52216945G>T	ENST00000222115.1	-	5	1506	c.1472C>A	c.(1471-1473)tCg>tAg	p.S491*	HAS1_ENST00000601714.1_Nonsense_Mutation_p.S498*|HAS1_ENST00000540069.2_Nonsense_Mutation_p.S490*	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	491					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)		CCGCCGGCCCGAGGTGCCCCA	0.667																																					p.S491X	NSCLC(132;636 2450 45807 47979)												.	.			0			c.C1472A												7	7	7					19																	52216945		1936	3915	5851	SO:0001587	stop_gained	3036	exon5			CGGCCCGAGGTGC	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.1472C>A	19.37:g.52216945G>T	ENSP00000222115:p.Ser491*		35	0	0		32	0.09	3	NM_001523	6	0	0	Q14470|Q9NS49	Nonsense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	35	5.569167	0.96540	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	.	.	.	3.31	3.31	0.37934	.	0.092979	0.45867	U	0.000335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-43.9845	12.4753	0.55809	0.0:0.0:1.0:0.0	.	.	.	.	X	490;491	.	ENSP00000222115:S491X	S	-	2	0	HAS1	56908757	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	9.373000	0.97168	1.860000	0.53959	0.174000	0.16983	TCG			0.667	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000466953.1		NM_001523		T	52216945	G	T	52216945	4	4	34	1	0	0	0	0	0	1	0	0	6976	1059	37	1	268	1	HAS1	19	52216945	Nonsense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10	3911323	52216945	6912038	57	2419											
ZNF547	284306	broad.mit.edu	37	chr19	57888687	57888687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaccccgagcagggactgTacacgtgtccagcacatctt	10	7	9	15	2	1	0	0	0	1	0	2	2	2	1	3	1	3	3	3	1	1	2			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:57888687T>C	ENST00000282282.3	+	4	493	c.343T>C	c.(343-345)Tac>Cac	p.Y115H	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	115					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(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGGGACTGTACACGTGTCC	0.512																																					p.Y115H													.	ZNF547	45		0			c.T343C												110	93	99					19																	57888687		2203	4300	6503	SO:0001583	missense	284306	exon4			GGACTGTACACGT	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.343T>C	19.37:g.57888687T>C	ENSP00000282282:p.Tyr115His		151	0	0		138	0.02	3	NM_173631	1	0	0	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	T	3.299	-0.143205	0.06669	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.04970	3.52	2.09	-0.181	0.13291	.	.	.	.	.	T	0.10551	0.0258	L	0.34521	1.04	0.09310	N	1	D;D;P	0.71674	0.998;0.997;0.856	D;P;B	0.68353	0.957;0.907;0.352	T	0.25710	-1.0124	9	0.42905	T	0.14	.	3.5189	0.07735	0.0:0.1476:0.2309:0.6215	.	115;115;115	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	H	115	ENSP00000282282:Y115H	ENSP00000282282:Y115H	Y	+	1	0	ZNF547	62580499	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.480000	0.02325	-0.108000	0.12066	-0.619000	0.04042	TAC			0.512	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465787.1		NM_173631		C	57888687	T	C	57888687	3	2	34	1	0	0	0	0	1	0	0	0	18002	1638	57	4	353	4	ZNF547	19	57888687	Missense_Mutation	SNP	T	TCGA-2G-AAGN-01A-11D-A42Y-10	5671742	57888687	1240296	58	2420											
ZNF814	730051	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	58388393	58388393	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaagttcacagccacatcTtcaaaagtcactgtgccctg	12	10	7	12	0	4	0	3	0	1	0	4	0	4	0	2	0	2	2	2	0	4	3			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:58388393T>C	ENST00000435989.2	-	2	288	c.54A>G	c.(52-54)gaA>gaG	p.E18E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Silent_p.E18E|ZNF814_ENST00000597342.1_Silent_p.E47E|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000600634.1_Silent_p.E18E|ZNF814_ENST00000597807.1_Silent_p.E18E|ZNF814_ENST00000596604.1_Silent_p.E18E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CAGCCACATCTTCAAAAGTCA	0.473																																					p.E18E													.	.			0			c.A54G												165	129	140					19																	58388393		692	1591	2283	SO:0001819	synonymous_variant	730051	exon2			CACATCTTCAAAA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.54A>G	19.37:g.58388393T>C			140	0	0		98	0.05	5	NM_001144989	28	0	0	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																					0.473	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708		C	58388393	T	C	58388393	2	2	34	1	0	0	0	0	0	0	0	1	18199	1606	56	4		4	ZNF814	19	58388393	Silent	SNP	T	TCGA-2G-AAGN-01A-11D-A42Y-10	499706	58388393	740590	59	2421											
DYRK1A	1859	mdanderson.org	37	chr21	38877888	38877888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctccagtacatcgtcaagCtcaggtctgtgctgctgcgg	7	10	11	13	2	3	0	2	0	1	0	5	0	4	0	2	2	5	4	2	2	2	1			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr21:38877888C>A	ENST00000398960.2	+	9	1617	c.1542C>A	c.(1540-1542)agC>agA	p.S514R	DYRK1A_ENST00000398956.2_Missense_Mutation_p.S514R|DYRK1A_ENST00000339659.4_Missense_Mutation_p.S505R|DYRK1A_ENST00000455387.2_Missense_Mutation_p.S286R|DYRK1A_ENST00000321219.8_Missense_Mutation_p.S514R|DYRK1A_ENST00000451934.1_Missense_Mutation_p.S514R|DYRK1A_ENST00000338785.3_Missense_Mutation_p.S514R	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	514	Poly-Ser.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CATCGTCAAGCTCAGGTCTGT	0.413																																					p.S514R	Melanoma(114;464 1602 31203 43785 45765)												.	.			0			c.C1542A												92	91	91					21																	38877888		2203	4300	6503	SO:0001583	missense	1859	exon11			GTCAAGCTCAGGT	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1542C>A	21.37:g.38877888C>A	ENSP00000381932:p.Ser514Arg		23	0	0		18	0.11	2	NM_101395	37	0	0	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290903	0.40494	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.59772	0.37;0.24;0.4;0.37;0.24;0.27;0.79	5.83	4.94	0.65067	.	0.075299	0.85682	D	0.000000	T	0.64405	0.2595	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D	0.64830	0.994;0.994;0.96;0.976;0.994	D;D;P;P;D	0.71870	0.975;0.975;0.634;0.799;0.975	T	0.60622	-0.7227	10	0.35671	T	0.21	.	14.3424	0.66636	0.0:0.9294:0.0:0.0706	.	514;514;514;505;514	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	R	514;505;514;514;514;514;286	ENSP00000342690:S514R;ENSP00000340373:S505R;ENSP00000319032:S514R;ENSP00000416089:S514R;ENSP00000381932:S514R;ENSP00000381929:S514R;ENSP00000407854:S286R	ENSP00000319032:S514R	S	+	3	2	DYRK1A	37799758	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	2.589000	0.46145	2.761000	0.94854	0.650000	0.86243	AGC			0.413	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194804.1		NM_001396		A	38877888	C	A	38877888	3	1	34	1	0	0	0	0	1	0	0	0	4859	796	28	2	1576	2	DYRK1A	21	38877888	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10		38877888	9252007	60	2422											
MAPK8IP2	23542	mdanderson.org	37	chr22	51044140	51044140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctacgcccatgcggtgccCggccctgccaaggacctgct	5	8	11	17	3	1	0	0	0	1	0	1	1	1	1	5	3	5	1	5	3	2	2	rs374360769		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr22:51044140C>T	ENST00000399908.2	+	5	1910	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	MAPK8IP2_ENST00000008876.5_Silent_p.P369P|MAPK8IP2_ENST00000329492.3_Silent_p.P663P|MAPK8IP2_ENST00000442429.2_Silent_p.P386P|MAPK8IP2_ENST00000341339.4_Silent_p.P284P|MAPK8IP2_ENST00000399912.1_Silent_p.P398P	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	664	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)		ATGCGGTGCCCGGCCCTGCCA	0.667																																					.													.	.			0			.							T	,	0,4186		0,0,2093	31	39	36		1991,1910	-10.3	0.3	22		36	1,8421		0,1,4210	no	coding-synonymous,coding-synonymous	MAPK8IP2	NM_012324.3,NM_016431.3	,	0,1,6303	TT,TC,CC		0.0119,0.0,0.0079	,	664/825,637/798	51044140	1,12607	2093	4211	6304	SO:0001819	synonymous_variant	23542	.			GGTGCCCGGCCCT	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.1194C>T	22.37:g.51044140C>T			34	0	0		40	0.08	3	.	48	0	0	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Silent	SNP	ENST00000399908.2	37																																																																																						0.667	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000316731.2		NM_012324		T	51044140	C	T	51044140	2	4	34	1	0	0	0	0	0	0	0	1	9301	639	23	1		1	MAPK8IP2	22	51044140	Silent	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10		51044140	260426	61	2423											
TBC1D25	4943	broad.mit.edu	37	chrX	48418342	48418342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctgtcatggaccatgaggGccatgcctttgtttgctttt	5	15	11	10	1	1	1	1	1	0	0	1	2	1	2	3	2	2	3	3	2	0	4			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chrX:48418342G>T	ENST00000376771.4	+	6	1387	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.G95V	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	349	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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						GACCATGAGGGCCATGCCTTT	0.587																																					p.G349V													.	TBC1D25	70		0			c.G1046T												48	33	38					X																	48418342		2203	4300	6503	SO:0001583	missense	4943	exon6			ATGAGGGCCATGC	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.1046G>T	X.37:g.48418342G>T	ENSP00000365962:p.Gly349Val		51	0	0		41	0.07	3	NM_002536	16	0	0	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.433113	0.43224	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.10860	2.83;2.83	5.78	5.78	0.91487	Rab-GAP/TBC domain (4);	0.057832	0.64402	D	0.000001	T	0.05181	0.0138	N	0.01656	-0.775	0.58432	D	0.999999	B;B;B	0.33448	0.412;0.412;0.023	B;B;B	0.38225	0.268;0.268;0.078	T	0.54166	-0.8334	10	0.29301	T	0.29	-8.9415	12.0397	0.53446	0.0:0.169:0.831:0.0	.	353;291;349	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	V	349;95	ENSP00000365962:G349V;ENSP00000444091:G95V	ENSP00000365962:G349V	G	+	2	0	TBC1D25	48303286	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.310000	0.72830	2.449000	0.82847	0.523000	0.50628	GGC			0.587	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060764.2		NM_002536		T	48418342	G	T	48418342	3	4	34	1	0	0	0	0	1	0	0	0	15638	1203	42	2	1068	2	TBC1D25	23	48418342	Missense_Mutation	SNP	G	TCGA-2G-AAGN-01A-11D-A42Y-10		48418342	106852218	62	2424											
TMEM185A	84548	broad.mit.edu	37	chrX	148690471	148690471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaacaagagcaagtggatgCccactgcaatcaacatggct	14	7	9	11	0	2	1	2	0	0	1	2	2	2	2	1	2	5	3	1	2	5	0			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chrX:148690471C>T	ENST00000316916.8	-	3	570	c.266G>A	c.(265-267)gGc>gAc	p.G89D	TMEM185A_ENST00000536359.1_Missense_Mutation_p.G30D|TMEM185A_ENST00000507237.1_Missense_Mutation_p.G89D	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	89						dendrite (GO:0030425)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGTGGATGCCCACTGCAAT	0.453																																					p.G89D													.	TMEM185A	26		0			c.G266A												170	146	154					X																	148690471		2202	4299	6501	SO:0001583	missense	84548	exon3			TGGATGCCCACTG	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"chromosome X open reading frame 13", "family with sequence similarity 11, member A"	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.266G>A	X.37:g.148690471C>T	ENSP00000359449:p.Gly89Asp		169	0	0		182	0.02	4	NM_032508	17	0	0	B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.706172	0.68615	.	.	ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237;ENST00000511776	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.46	5.46	0.80206	.	0.050556	0.85682	D	0.000000	T	0.24353	0.0590	L	0.53249	1.67	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.14023	0.01;0.006;0.004	T	0.02269	-1.1185	10	0.32370	T	0.25	-10.6637	17.2137	0.86937	0.0:1.0:0.0:0.0	.	89;30;89	Q8NFB2;F5H5U0;E7EMM1	T185A_HUMAN;.;.	D	89;30;89;30	ENSP00000359449:G89D;ENSP00000443119:G30D;ENSP00000427766:G89D;ENSP00000428659:G30D	ENSP00000359449:G89D	G	-	2	0	TMEM185A	148498267	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.438000	0.80431	2.275000	0.75901	0.513000	0.50165	GGC			0.453	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058710.4		NM_032508		T	148690471	C	T	148690471	3	4	34	1	0	0	0	0	1	0	0	0	16130	739	26	2	806	2	TMEM185A	23	148690471	Missense_Mutation	SNP	C	TCGA-2G-AAGN-01A-11D-A42Y-10	100272129	148690471	6580089	63	2425											
OTUD3	23252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	20234139	20234139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagaggcaccgccacaaagCcctggagagcagaggtagcc	12	2	15	12	1	0	3	0	0	0	3	0	5	0	3	4	4	3	3	4	4	2	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr1:20234139C>T	ENST00000375120.3	+	8	1098	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	366					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCACAAAGCCCTGGAGAGC	0.562																																					p.A366V													.	.			0			c.C1097T												57	71	66					1																	20234139		2101	4216	6317	SO:0001583	missense	23252	exon8			ACAAAGCCCTGGA	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.1097C>T	1.37:g.20234139C>T	ENSP00000364261:p.Ala366Val		58	0	0		96	0.17	16	NM_015207	8	0.13	1	O75047	Missense_Mutation	SNP	ENST00000375120.3	37	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271839	0.23221	.	.	ENSG00000169914	ENST00000375120	T	0.20069	2.1	5.93	5.01	0.66863	.	0.111064	0.64402	D	0.000013	T	0.09468	0.0233	N	0.15975	0.35	0.31031	N	0.717378	B	0.18610	0.029	B	0.09377	0.004	T	0.20605	-1.0270	10	0.02654	T	1	.	8.9583	0.35832	0.0:0.7947:0.0:0.2053	.	366	Q5T2D3	OTUD3_HUMAN	V	366	ENSP00000364261:A366V	ENSP00000364261:A366V	A	+	2	0	OTUD3	20106726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.045000	0.49838	2.805000	0.96524	0.655000	0.94253	GCC			0.562	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007655.1				T	20234139	C	T	20234139	3	4	35	1	0	0	0	0	1	0	0	0	11330	739	26	2	1127	2	OTUD3	1	20234139	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10		20234139	229016482	1	2426											
ADAMTSL4	54507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150526002	150526002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggcaccctcggagcccaCccagatctgagctgtccctg	7	6	11	17	1	1	2	0	1	1	1	3	3	2	3	4	2	2	3	4	2	0	0			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr1:150526002C>A	ENST00000369038.2	+	4	736	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P179T|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P179T|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P179T|MIR4257_ENST00000581735.1_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	179					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)			TCGGAGCCCACCCAGATCTGA	0.597																																					p.P179T													.	.			0			c.C535A												98	100	100					1																	150526002		2203	4300	6503	SO:0001583	missense	54507	exon6			AGCCCACCCAGAT	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.535C>A	1.37:g.150526002C>A	ENSP00000358034:p.Pro179Thr		62	0	0		105	0.24	25	NM_019032	9	0.44	4	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383741	0.25031	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.61859	0.15;0.07;0.36;0.07	3.87	2.95	0.34219	.	.	.	.	.	T	0.21921	0.0528	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.27416	0.001;0.001;0.019;0.178	B;B;B;B	0.25140	0.001;0.001;0.011;0.058	T	0.19679	-1.0298	9	0.13108	T	0.6	.	7.2997	0.26413	0.0:0.8723:0.0:0.1277	.	179;179;179;179	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	T	179	ENSP00000358037:P179T;ENSP00000271643:P179T;ENSP00000358035:P179T;ENSP00000358034:P179T	ENSP00000271643:P179T	P	+	1	0	ADAMTSL4	148792626	0.000000	0.05858	0.001000	0.08648	0.293000	0.27360	0.085000	0.14912	0.625000	0.30304	0.536000	0.68110	CCC			0.597	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084395.4		NM_019032		A	150526002	C	A	150526002	3	1	35	1	0	0	0	0	1	0	0	0	277	507	18	3	549	3	ADAMTSL4	1	150526002	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	130291863	150526002	98724619	2	2427											
PGLYRP4	57115	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	153303252	153303252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggcttctctcagtgtttGaaatgaggccaggtgctgat	7	13	14	7	0	2	3	1	3	1	0	3	3	2	3	1	4	1	3	1	4	1	2	rs41310915	byFrequency	TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr1:153303252G>C	ENST00000359650.5	-	9	1177	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	RNU6-160P_ENST00000384591.1_RNA|PGLYRP4_ENST00000368739.3_Missense_Mutation_p.F367L	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	371					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)			CTCAGTGTTTGAAATGAGGCC	0.557																																					p.F371L													.	.			0			c.C1113G												115	107	110					1																	153303252		2203	4300	6503	SO:0001583	missense	57115	exon9			GTGTTTGAAATGA	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.1113C>G	1.37:g.153303252G>C	ENSP00000352672:p.Phe371Leu		175	0	0		166	0.27	45	NM_020393	0		0	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735601	0.30774	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.02	2.09	0.27110	N-acetylmuramoyl-L-alanine amidase domain (2);	0.112970	0.37304	N	0.002153	T	0.06508	0.0167	M	0.76433	2.335	0.33294	D	0.56391	P;P	0.39940	0.696;0.57	B;B	0.29663	0.105;0.049	T	0.09164	-1.0687	10	0.62326	D	0.03	-41.2079	5.7592	0.18190	0.1561:0.0:0.8439:0.0	.	367;371	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	L	367;371	ENSP00000357728:F367L;ENSP00000352672:F371L	ENSP00000352672:F371L	F	-	3	2	PGLYRP4	151569876	1.000000	0.71417	0.972000	0.41901	0.841000	0.47740	2.095000	0.41729	0.570000	0.29347	0.455000	0.32223	TTC			0.557	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000089978.1		NM_020393		C	153303252	G	C	153303252	3	2	35	1	0	0	0	0	1	0	0	0	11813	1281	45	5	12	5	PGLYRP4	1	153303252	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	2777250	153303252	95947369	3	2428											
PEAR1	375033	hgsc.bcm.edu	37	chr1	156875139	156875139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtataccggaccgtgtaccGtcaggtggtgaagacggacc	9	8	14	10	4	1	2	1	1	0	1	1	4	1	4	4	4	2	2	4	4	4	3	rs367928332		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr1:156875139G>T	ENST00000338302.3	+	5	455	c.230G>T	c.(229-231)cGt>cTt	p.R77L	PEAR1_ENST00000292357.7_Missense_Mutation_p.R77L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	77	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCGTGTACCGTCAGGTGGTG	0.657																																					p.R77L													PEAR1,NS,haematopoietic_neoplasm,+1,2	PEAR1	1	2	0			c.G230T												66	58	61					1																	156875139		2203	4300	6503	SO:0001583	missense	375033	exon4			TGTACCGTCAGGT	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.230G>T	1.37:g.156875139G>T	ENSP00000344465:p.Arg77Leu		15	0.0666666667	1		29	0.69	20	NM_001080471	1	0	0	Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246144	0.59103	.	.	ENSG00000187800	ENST00000338302;ENST00000455314;ENST00000292357	D;T;D	0.90620	-2.7;0.57;-2.7	3.92	2.01	0.26516	EMI domain (1);	0.180201	0.27035	N	0.021250	D	0.85784	0.5777	L	0.36672	1.1	0.48830	D	0.999719	D	0.67145	0.996	P	0.57425	0.82	D	0.85126	0.0972	10	0.87932	D	0	.	8.25	0.31712	0.2038:0.0:0.7962:0.0	.	77	Q5VY43	PEAR1_HUMAN	L	77	ENSP00000344465:R77L;ENSP00000389742:R77L;ENSP00000292357:R77L	ENSP00000292357:R77L	R	+	2	0	PEAR1	155141763	1.000000	0.71417	0.969000	0.41365	0.894000	0.52154	6.979000	0.76154	0.311000	0.23014	-0.150000	0.13652	CGT			0.657	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098937.2		NM_001080471		T	156875139	G	T	156875139	3	4	35	1	0	0	0	0	1	0	0	0	11729	1145	40	1	240	1	PEAR1	1	156875139	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	3571887	156875139	92375482	4	2429											
LAD1	3898	broad.mit.edu	37	chr1	201356276	201356276	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgggggcagtggcttGggcacctctgcttcttccac	4	10	15	12	0	2	0	0	0	2	0	3	1	3	0	2	5	1	5	2	5	0	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr1:201356276G>T	ENST00000391967.2	-	3	514	c.213C>A	c.(211-213)ccC>ccA	p.P71P	LAD1_ENST00000367313.3_Silent_p.P85P	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	71						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCAGTGGCTTGGGCACCTCTG	0.562																																					p.P71P													.	LAD1	42		0			c.C213A												39	40	40					1																	201356276		2203	4300	6503	SO:0001819	synonymous_variant	3898	exon3			TGGCTTGGGCACC	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.213C>A	1.37:g.201356276G>T			59	0	0		79	0.04	3	NM_005558	44	0	0	O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	CCDS1410.1																																																																																					0.562	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086946.1		NM_005558		T	201356276	G	T	201356276	2	4	35	1	0	0	0	0	0	0	0	1	8614	1335	47	3		3	LAD1	1	201356276	Silent	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	44481137	201356276	47894345	5	2430											
ADSS	159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	244600986	244600986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaatgaatgcagtgacatTtggattaattattccactgg	13	13	8	7	0	0	2	0	2	0	0	1	3	1	3	2	2	1	1	2	2	4	4			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr1:244600986T>C	ENST00000366535.3	-	2	584	c.268A>G	c.(268-270)Aat>Gat	p.N90D		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)			GCAGTGACATTTGGATTAATT	0.358																																					p.N90D													.	.			0			c.A268G												129	139	136					1																	244600986		2203	4300	6503	SO:0001583	missense	159	exon2			TGACATTTGGATT	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.268A>G	1.37:g.244600986T>C	ENSP00000355493:p.Asn90Asp		95	0	0		95	0.23	22	NM_001126	144	0.33	48		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211349	0.58343	.	.	ENSG00000035687	ENST00000366535;ENST00000449326;ENST00000430700	T	0.42513	0.97	5.81	5.81	0.92471	.	0.126914	0.64402	D	0.000001	T	0.25865	0.0630	N	0.17248	0.465	0.46749	D	0.999182	B	0.02656	0.0	B	0.04013	0.001	T	0.10706	-1.0618	10	0.06365	T	0.9	-14.1074	15.1599	0.72775	0.0:0.0:0.0:1.0	.	90	P30520	PURA2_HUMAN	D	90;69;30	ENSP00000355493:N90D	ENSP00000355493:N90D	N	-	1	0	ADSS	242667609	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.393000	0.79851	2.217000	0.71921	0.482000	0.46254	AAT			0.358	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096697.1		NM_001126		C	244600986	T	C	244600986	3	2	35	1	0	0	0	0	1	0	0	0	347	1841	64	4	1150	4	ADSS	1	244600986	Missense_Mutation	SNP	T	TCGA-2G-AAGO-01A-11D-A42Y-10	43244710	244600986	4649635	6	2431											
TRMT61B	55006	mdanderson.org	37	chr2	29093089	29093089	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggaatgaattggttcCgagcccctgccgcaggcaca	9	7	13	12	2	0	1	0	1	0	0	1	3	1	2	4	3	3	4	4	3	2	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr2:29093089C>G	ENST00000306108.5	-	1	78	c.55G>C	c.(55-57)Gga>Cga	p.G19R		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	19					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GAATTGGTTCCGAGCCCCTGC	0.622																																					p.G19R													.	.			0			c.G55C												23	28	26					2																	29093089		2200	4297	6497	SO:0001583	missense	55006	exon1			TGGTTCCGAGCCC	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.55G>C	2.37:g.29093089C>G	ENSP00000302801:p.Gly19Arg		23	0	0		24	0.13	3	NM_017910	66	0	0	Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984954	0.35036	.	.	ENSG00000171103	ENST00000306108	T	0.53857	0.6	5.44	0.481	0.16809	.	0.794537	0.10783	N	0.634623	T	0.32823	0.0842	N	0.19112	0.55	0.09310	N	1	B;B	0.17667	0.023;0.013	B;B	0.17979	0.02;0.009	T	0.23476	-1.0187	10	0.18710	T	0.47	.	7.8569	0.29487	0.0:0.5692:0.0:0.4308	.	19;19	F8WDR2;Q9BVS5	.;TR61B_HUMAN	R	19	ENSP00000302801:G19R	ENSP00000302801:G19R	G	-	1	0	TRMT61B	28946593	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.037000	0.12164	0.083000	0.17047	0.561000	0.74099	GGA			0.622	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250224.1		NM_017910		G	29093089	C	G	29093089	3	3	35	1	0	0	0	0	1	0	0	0	16594	661	23	5	1406	5	TRMT61B	2	29093089	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10		29093089	214106284	7	2432											
DYSF	8291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	71783195	71783195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacggatgagctcatcgcagGctgcaggtaggggggacctg	8	6	18	9	2	1	1	1	1	0	0	2	4	1	3	1	6	2	5	1	6	1	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr2:71783195G>T	ENST00000258104.3	+	22	2433	c.2156G>T	c.(2155-2157)gGc>gTc	p.G719V	DYSF_ENST00000410020.3_Missense_Mutation_p.G737V|DYSF_ENST00000429174.2_Missense_Mutation_p.G719V|DYSF_ENST00000409651.1_Missense_Mutation_p.G751V|DYSF_ENST00000409582.3_Missense_Mutation_p.G736V|DYSF_ENST00000413539.2_Missense_Mutation_p.G750V|DYSF_ENST00000409762.1_Missense_Mutation_p.G736V|DYSF_ENST00000409366.1_Missense_Mutation_p.G720V|DYSF_ENST00000394120.2_Missense_Mutation_p.G720V|DYSF_ENST00000409744.1_Missense_Mutation_p.G706V|DYSF_ENST00000410041.1_Missense_Mutation_p.G737V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	719					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						CTCATCGCAGGCTGCAGGTAG	0.667																																					p.G751V													.	.			0			c.G2252T												21	18	19					2																	71783195		2189	4283	6472	SO:0001583	missense	8291	exon23			TCGCAGGCTGCAG	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.2156G>T	2.37:g.71783195G>T	ENSP00000258104:p.Gly719Val		78	0	0		90	0.31	28	NM_001130982	46	0.17	8	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	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237550	0.39598	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.08	1.42	0.22433	Ferlin A-domain (1);	0.115096	0.56097	D	0.000025	T	0.63943	0.2554	N	0.22421	0.69	0.51233	D	0.99991	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.22800	0.036;0.036;0.036;0.036;0.007;0.007;0.007;0.004;0.036;0.036;0.075;0.02;0.036;0.045	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32393	0.032;0.06;0.06;0.06;0.02;0.06;0.038;0.038;0.06;0.088;0.145;0.06;0.06;0.099	T	0.55535	-0.8126	10	0.62326	D	0.03	-6.6413	6.9035	0.24295	0.7903:0.0:0.2097:0.0	.	751;737;720;706;737;706;736;705;750;736;719;705;720;719	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	V	750;736;736;719;719;751;720;706;720;737;737	ENSP00000407046:G750V;ENSP00000387137:G736V;ENSP00000386547:G736V;ENSP00000398305:G719V;ENSP00000258104:G719V;ENSP00000386683:G751V;ENSP00000377678:G720V;ENSP00000386285:G706V;ENSP00000386512:G720V;ENSP00000386881:G737V;ENSP00000386617:G737V	ENSP00000258104:G719V	G	+	2	0	DYSF	71636703	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	5.099000	0.64554	0.119000	0.18210	-0.459000	0.05422	GGC			0.667	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000251970.3		NM_003494		T	71783195	G	T	71783195	3	4	35	1	0	0	0	0	1	0	0	0	4864	1203	42	2	2434	2	DYSF	2	71783195	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	42690106	71783195	171416178	8	2433											
TEKT4	150483	mdanderson.org	37	chr2	95540628	95540628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgctggtggactgcatccTtcgcgacacctccgaggacc	6	8	13	14	3	0	0	0	0	0	0	3	4	2	2	4	4	2	2	4	4	0	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr2:95540628T>C	ENST00000295201.4	+	4	958	c.821T>C	c.(820-822)cTt>cCt	p.L274P	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	274					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GACTGCATCCTTCGCGACACC	0.692																																					p.L274P													.	.			0			c.T821C												26	32	30					2																	95540628		2198	4296	6494	SO:0001583	missense	150483	exon4			GCATCCTTCGCGA	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.821T>C	2.37:g.95540628T>C	ENSP00000295201:p.Leu274Pro		30	0	0		24	0.13	3	NM_144705	0		0		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815625	0.50527	.	.	ENSG00000163060	ENST00000295201	T	0.04156	3.69	2.18	2.18	0.27775	.	0.000000	0.64402	D	0.000001	T	0.24699	0.0599	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02958	-1.1089	10	0.87932	D	0	-12.971	7.9469	0.29991	0.0:0.0:0.0:1.0	.	274	Q8WW24	TEKT4_HUMAN	P	274	ENSP00000295201:L274P	ENSP00000295201:L274P	L	+	2	0	TEKT4	94904355	0.708000	0.27876	0.648000	0.29521	0.401000	0.30781	3.418000	0.52721	1.021000	0.39600	0.382000	0.24955	CTT			0.692	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252777.1		NM_144705		C	95540628	T	C	95540628	3	2	35	1	0	0	0	0	1	0	0	0	15778	1609	56	4	835	4	TEKT4	2	95540628	Missense_Mutation	SNP	T	TCGA-2G-AAGO-01A-11D-A42Y-10	23757433	95540628	147658745	9	2434											
FBLN7	129804	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	112896249	112896250	+	Frame_Shift_Del	DEL	CG	CG	-																															caagatggtgcccagctctcCgcgcgcgctcttccttctgc																								rs201573384		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	CG	CG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr2:112896249_112896250delCG	ENST00000331203.2	+	1	288_289	c.17_18delCG	c.(16-18)ccgfs	p.P6fs	FBLN7_ENST00000409450.3_Frame_Shift_Del_p.P6fs|FBLN7_ENST00000409667.3_Frame_Shift_Del_p.P6fs|FBLN7_ENST00000409903.1_Frame_Shift_Del_p.P6fs	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	6					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCCAGCTCTCCGCGCGCGCTCT	0.673																																					p.6_6del													.	FBLN7	49		0			c.16_17del																																									SO:0001589	frameshift_variant	129804	exon1			GCTCTCCGCGCGC		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.17_18delCG	2.37:g.112896255_112896256delCG	ENSP00000331411:p.Pro6fs		123	0	0		118	0.16	19	NM_153214	1	0	0	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Frame_Shift_Del	DEL	ENST00000331203.2	37	CCDS2095.1																																																																																					0.673	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330505.1		NM_153214		-	112896250	CG	-	112896249	7	5	35	1	0	1	0	1	0	0	0	0	5714	652	23	0	19	0	FBLN7	2	112896249	Frame_Shift_Del	DEL	CG	TCGA-2G-AAGO-01A-11D-A42Y-10	17355621	112896249	130303124	10	2435											
SMPD4	55627	mdanderson.org	37	chr2	130910298	130910298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtaactgcccaggaagcGcaggctgagcctggggccgc	7	4	16	14	3	0	1	0	1	0	0	0	2	0	2	4	5	4	3	4	5	2	1	rs542450477		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr2:130910298G>A	ENST00000409031.1	-	20	3579	c.2431C>T	c.(2431-2433)Cgc>Tgc	p.R811C	SMPD4_ENST00000452225.2_Missense_Mutation_p.R552C|SMPD4_ENST00000351288.6_Missense_Mutation_p.R782C|SMPD4_ENST00000453750.1_Missense_Mutation_p.R560C|SMPD4_ENST00000339679.7_Missense_Mutation_p.R669C|SMPD4_ENST00000443958.2_Missense_Mutation_p.R475C|SMPD4_ENST00000426662.2_Missense_Mutation_p.R447C|SMPD4_ENST00000431183.2_Missense_Mutation_p.R709C	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	772					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCCAGGAAGCGCAGGCTGAGC	0.697													.|||	1	0.000199681	0	0	5008	,	,		14884	0.001		0	False		,,,				2504	0				p.R811C													.	.			0			c.C2431T												11	13	12					2																	130910298		2157	4219	6376	SO:0001583	missense	55627	exon20			GGAAGCGCAGGCT	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2431C>T	2.37:g.130910298G>A	ENSP00000386531:p.Arg811Cys		67	0.0149253731	1		70	0.06	4	NM_017951	249	0	0	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.160861	0.78226	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662	.	.	.	4.08	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	M	0.83483	2.645	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998;0.992;1.0;1.0;0.995;1.0	T	0.78499	-0.2180	9	0.66056	D	0.02	.	8.4224	0.32710	0.0:0.0:0.6178:0.3822	.	447;552;709;669;560;743;772;811;818;343	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	C	782;811;709;560;475;669;552;447	.	ENSP00000339721:R669C	R	-	1	0	SMPD4	130626768	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.409000	0.59768	1.797000	0.52628	0.455000	0.32223	CGC			0.697	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254516.3		NM_017751		A	130910298	G	A	130910298	3	1	35	1	0	0	0	0	1	0	0	0	14830	1087	38	1	173	1	SMPD4	2	130910298	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	18014049	130910298	112289075	11	2436											
GRB14	2888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	165353738	165353738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccatgtttgtggcagagCtctgtgaagaggcagtgggg	8	10	16	7	0	1	3	0	1	1	2	1	3	1	3	1	4	2	4	1	4	2	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr2:165353738C>A	ENST00000263915.3	-	11	1815	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	GRB14_ENST00000543549.1_Missense_Mutation_p.S339I|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	426					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTGGCAGAGCTCTGTGAAGA	0.443																																					p.S426I													.	.			0			c.G1277T												119	117	118					2																	165353738		2203	4300	6503	SO:0001583	missense	2888	exon11			GCAGAGCTCTGTG		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1277G>T	2.37:g.165353738C>A	ENSP00000263915:p.Ser426Ile		201	0	0		188	0.24	45	NM_004490	14	0.43	6	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	8.662	0.900756	0.17686	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;D	0.93307	0.86;0.86;-3.2	5.49	2.45	0.29901	.	0.152878	0.64402	D	0.000015	D	0.88321	0.6405	L	0.49778	1.585	0.44492	D	0.997436	B;B	0.14012	0.001;0.009	B;B	0.12156	0.002;0.007	T	0.83334	-0.0011	10	0.45353	T	0.12	-13.6095	4.987	0.14194	0.0:0.4666:0.3262:0.2072	.	339;426	B7Z7F9;Q14449	.;GRB14_HUMAN	I	426;339;381	ENSP00000263915:S426I;ENSP00000443699:S339I;ENSP00000416786:S381I	ENSP00000263915:S426I	S	-	2	0	GRB14	165061984	1.000000	0.71417	0.974000	0.42286	0.150000	0.21749	1.102000	0.31050	1.302000	0.44855	0.655000	0.94253	AGC			0.443	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255180.2				A	165353738	C	A	165353738	3	1	35	1	0	0	0	0	1	0	0	0	6772	797	28	2	361	2	GRB14	2	165353738	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	34443440	165353738	77845635	12	2437											
CXCR1	3577	hgsc.bcm.edu	37	chr2	219029115	219029115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgctcacagctctcctGgatcacctgggtcctcatga	6	9	11	15	2	4	1	3	1	1	0	6	2	5	2	3	3	1	2	3	3	0	0			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr2:219029115G>T	ENST00000295683.2	-	2	940	c.820C>A	c.(820-822)Cag>Aag	p.Q274K		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	274					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)	CAGCTCTCCTGGATCACCTGG	0.577																																					p.Q274K													.	.			0			c.C820A												80	76	77					2																	219029115		2203	4300	6503	SO:0001583	missense	3577	exon2			TCTCCTGGATCAC	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.820C>A	2.37:g.219029115G>T	ENSP00000295683:p.Gln274Lys		95	0	0		119	0.04	5	NM_000634	0		0	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.397763	0.00198	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.65178	-0.14	4.89	-9.77	0.00500	GPCR, rhodopsin-like superfamily (1);	2.830220	0.00678	N	0.000668	T	0.35008	0.0917	N	0.12471	0.22	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30822	-0.9965	10	0.09084	T	0.74	.	6.9158	0.24359	0.0759:0.1133:0.4744:0.3364	.	274	P25024	CXCR1_HUMAN	K	274;218	ENSP00000295683:Q274K	ENSP00000295683:Q274K	Q	-	1	0	CXCR1	218737360	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.831000	0.00052	-3.946000	0.00088	-2.518000	0.00185	CAG			0.577	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256773.2		NM_000634		T	219029115	G	T	219029115	3	4	35	1	0	0	0	0	1	0	0	0	4092	1357	47	3	236	3	CXCR1	2	219029115	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	53675377	219029115	24170258	13	2438											
SPHKAP	80309	mdanderson.org	37	chr2	228883882	228883882	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacggcactggccaccTgagtcatgccacacaaagca	12	4	9	16	1	1	1	1	1	0	0	1	1	1	1	4	2	3	2	4	2	1	0			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr2:228883882T>C	ENST00000392056.3	-	7	1734	c.1688A>G	c.(1687-1689)cAg>cGg	p.Q563R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q563R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	563						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTGGCCACCTGAGTCATGCC	0.562																																					p.Q563R													SPHKAP,larynx,carcinoma,+1,1	SPHKAP	1	1	0			c.A1688G												112	103	106					2																	228883882		2203	4300	6503	SO:0001583	missense	80309	exon7			GCCACCTGAGTCA		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1688A>G	2.37:g.228883882T>C	ENSP00000375909:p.Gln563Arg		47	0	0		52	0.06	3	NM_030623	0		0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.503231	0.85176	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.52526	0.66;0.66	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.78637	2.42	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.72414	-0.4301	10	0.54805	T	0.06	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	563;563	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	563	ENSP00000375909:Q563R;ENSP00000339886:Q563R	ENSP00000339886:Q563R	Q	-	2	0	SPHKAP	228592126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.396000	0.79891	2.228000	0.72767	0.533000	0.62120	CAG			0.562	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000331750.1		NM_030623		C	228883882	T	C	228883882	3	2	35	1	0	0	0	0	1	0	0	0	15071	1580	55	4	3438	4	SPHKAP	2	228883882	Missense_Mutation	SNP	T	TCGA-2G-AAGO-01A-11D-A42Y-10	9854767	228883882	14315491	14	2439											
DIS3L2	129563	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	233194705	233194705	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctccgcaggagccctcaAtgtgagtggtgggcaggatt	8	8	15	10	1	1	1	1	1	0	0	2	3	2	3	2	4	2	3	2	4	1	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr2:233194705A>G	ENST00000409307.1	+	14	1922	c.1922A>G	c.(1921-1923)aAt>aGt	p.N641S	DIS3L2_ENST00000325385.7_Splice_Site_p.N641S|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGAGCCCTCAATGTGAGTGGT	0.647																																					p.N641S													.	.			0			c.A1922G												36	42	40					2																	233194705		1935	4125	6060	SO:0001630	splice_region_variant	129563	exon15			CCCTCAATGTGAG	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1923+1A>G	2.37:g.233194705A>G			80	0	0		80	0.33	26	NM_152383	20	0.3	6		Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.15|11.15	1.554676|1.554676	0.27739|0.27739	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000542873|ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	.|T;T;T	.|0.35048	.|1.33;1.33;1.33	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Ribonuclease II/R (2);	.|0.346876	.|0.28748	.|N	.|0.014268	T|T	0.20577|0.20577	0.0495|0.0495	N|N	0.05259|0.05259	-0.085|-0.085	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.17979	.|0.02	T|T	0.07366|0.07366	-1.0776|-1.0776	5|10	.|0.22706	.|T	.|0.39	-9.5511|-9.5511	15.0389|15.0389	0.71770|0.71770	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|641	.|Q8IYB7	.|DI3L2_HUMAN	V|S	617|641;641;641;276	.|ENSP00000315569:N641S;ENSP00000386799:N641S;ENSP00000415419:N276S	.|ENSP00000315569:N641S	M|N	+|+	1|2	0|0	DIS3L2|DIS3L2	232902949|232902949	0.981000|0.981000	0.34729|0.34729	0.932000|0.932000	0.37286|0.37286	0.953000|0.953000	0.61014|0.61014	6.697000|6.697000	0.74603|0.74603	2.023000|2.023000	0.59567|0.59567	0.520000|0.520000	0.50463|0.50463	ATG|AAT			0.647	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330988.1		NM_152383	Missense_Mutation	G	233194705	A	G	233194705	5	3	35	1	0	0	0	0	0	0	1	0	4542	115	4	4	1976	4	DIS3L2	2	233194705	Splice_Site	SNP	A	TCGA-2G-AAGO-01A-11D-A42Y-10	4310823	233194705	10004668	15	2440											
CAMKV	79012	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	49899544	49899552	+	In_Frame_Del	DEL	TTCTTGCAG	TTCTTGCAG	-																															ggccgtcccgcttctggaacTtcttgcaggtgtgcagcttg																										TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	TTCTTGCAG	TTCTTGCAG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr3:49899544_49899552delTTCTTGCAG	ENST00000477224.1	-	3	631_639	c.153_161delCTGCAAGAA	c.(151-162)acctgcaagaag>acg	p.CKK52del	CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000463537.1_In_Frame_Del_p.CKK52del|CAMKV_ENST00000466940.1_In_Frame_Del_p.CKK52del|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000488336.1_In_Frame_Del_p.CKK52del|CAMKV_ENST00000296471.7_In_Frame_Del_p.CKK52del|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	52	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)		CTTCTGGAACTTCTTGCAGGTGTGCAGCT	0.589																																					p.52_54del													.	CAMKV	84		0			c.154_162del																																									SO:0001651	inframe_deletion	79012	exon3			TGGAACTTCTTGC	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.153_161delCTGCAAGAA	3.37:g.49899544_49899552delTTCTTGCAG	ENSP00000419195:p.Cys52_Lys54del		78	0	0		80	0.28	22	NM_024046	68	0.44	30	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	In_Frame_Del	DEL	ENST00000477224.1	37	CCDS33762.1																																																																																					0.589	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350584.4		NM_024046		-	49899552	TTCTTGCAG	-	49899544	7	5	35	1	0	1	0	1	0	0	0	0	2610	1609	56	0	1380	0	CAMKV	3	49899544	In_Frame_Del	DEL	TTCTTGCAG	TCGA-2G-AAGO-01A-11D-A42Y-10		49899544	148122886	16	2441											
STAB1	23166	mdanderson.org	37	chr3	52557127	52557127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtgctggctgccactGccaacttctccaccttctat	6	13	8	14	0	2	0	0	0	2	0	3	1	2	1	4	2	4	2	4	2	2	3	rs372724948		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr3:52557127G>A	ENST00000321725.6	+	63	7073	c.6997G>A	c.(6997-6999)Gcc>Acc	p.A2333T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2333	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				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)		GGCTGCCACTGCCAACTTCTC	0.617																																					p.A2333T													.	.			0			c.G6997A							G	THR/ALA	0,4404		0,0,2202	77	80	79		6997	4	0.9	3		79	1,8595	1.2+/-3.3	0,1,4297	no	missense	STAB1	NM_015136.2	58	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2333/2571	52557127	1,12999	2202	4298	6500	SO:0001583	missense	23166	exon63			GCCACTGCCAACT	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.6997G>A	3.37:g.52557127G>A	ENSP00000312946:p.Ala2333Thr		34	0	0		23	0.13	3	NM_015136	38	0	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882732	0.72410	0.0	1.16E-4	ENSG00000010327	ENST00000321725	D	0.91464	-2.85	5.74	3.96	0.45880	FAS1 domain (3);	0.279368	0.34750	N	0.003703	D	0.91092	0.7196	M	0.65975	2.015	0.32946	D	0.519097	D;D	0.59357	0.985;0.967	P;P	0.53360	0.724;0.629	D	0.91750	0.5411	10	0.62326	D	0.03	.	7.1758	0.25744	0.1513:0.1398:0.7089:0.0	.	220;2333	B3KSK0;Q9NY15	.;STAB1_HUMAN	T	2333	ENSP00000312946:A2333T	ENSP00000312946:A2333T	A	+	1	0	STAB1	52532167	0.047000	0.20315	0.885000	0.34714	0.914000	0.54420	0.684000	0.25364	0.784000	0.33661	0.561000	0.74099	GCC			0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351380.2		NM_015136		A	52557127	G	A	52557127	3	1	35	1	0	0	0	0	1	0	0	0	15260	1319	46	2	7247	2	STAB1	3	52557127	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	2657583	52557127	145465303	17	2442											
SDAD1	55153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	76882374	76882374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttactcttatccttGtgtgttttatactgagccag	7	17	8	9	0	1	1	0	1	1	0	2	1	2	1	2	0	5	3	2	0	4	6	rs143777133		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr4:76882374G>A	ENST00000356260.5	-	15	1387	c.1269C>T	c.(1267-1269)caC>caT	p.H423H	SDAD1_ENST00000395711.4_Silent_p.H386H|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	423					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)			TCTTATCCTTGTGTGTTTTAT	0.393																																					p.H423H													.	.			0			c.C1269T							G		0,4406		0,0,2203	140	125	130		1269	2.6	1	4	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDAD1	NM_018115.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		423/688	76882374	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55153	exon15			ATCCTTGTGTGTT	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.1269C>T	4.37:g.76882374G>A			125	0	0		117	0.3	35	NM_018115	161	0.43	70	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	ENST00000356260.5	37	CCDS3573.2																																																																																			0		0.393	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252418.3		NM_018115		A	76882374	G	A	76882374	2	1	35	1	0	0	0	0	0	0	0	1	13973	1368	48	3		3	SDAD1	4	76882374	Silent	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		76882374	114271902	18	2443											
CTNND2	1501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	11397161	11397161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggctgaagctctggccCgtagctcgggcttgtgtgcc	4	10	14	13	2	1	1	0	1	1	0	2	1	1	1	3	3	3	5	3	3	2	2	rs61749784	byFrequency	TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr5:11397161C>T	ENST00000304623.8	-	6	783	c.594G>A	c.(592-594)acG>acA	p.T198T	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Silent_p.T107T|CTNND2_ENST00000359640.2_Silent_p.T198T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	198					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)		p.T198T(1)		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						AGCTCTGGCCCGTAGCTCGGG	0.612													C|||	9	0.00179712	0.0068	0	5008	,	,		16864	0		0	False		,,,				2504	0				p.T198T													.	.			1	Substitution - coding silent(1)	lung(1)	c.G594A							C		16,4390	23.3+/-48.9	0,16,2187	100	101	101		594	-11.8	0	5	dbSNP_129	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CTNND2	NM_001332.2		0,17,6486	TT,TC,CC		0.0116,0.3631,0.1307		198/1226	11397161	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	1501	exon6			CTGGCCCGTAGCT	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.594G>A	5.37:g.11397161C>T			50	0	0		63	0.38	24	NM_001332	0		0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																			0.002		0.612	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206999.1		NM_001332		T	11397161	C	T	11397161	2	4	35	1	0	0	0	0	0	0	0	1	4022	639	23	1		1	CTNND2	5	11397161	Silent	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10		11397161	169518099	19	2444											
NKX2-5	1482	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	172659730	172659730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcccggcggggtaagCggcagtgcagctgtagccag	8	4	19	10	3	0	0	0	0	0	0	0	1	0	1	2	6	4	5	2	6	3	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr5:172659730C>T	ENST00000329198.4	-	2	1090	c.817G>A	c.(817-819)Gct>Act	p.A273T		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	273	Ala/Pro-rich.				adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|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)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGGGGTAAGCGGCAGTGCAG	0.672																																					p.A273T	Esophageal Squamous(72;810 1219 2387 13420 44943)												.	NKX2-5	42		0			c.G817A												11	13	12					5																	172659730		2196	4286	6482	SO:0001583	missense	0	exon2			GGTAAGCGGCAGT	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.817G>A	5.37:g.172659730C>T	ENSP00000327758:p.Ala273Thr		88	0.0113636364	1		73	0.33	24	NM_004387	0		0	A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653196	0.14580	.	.	ENSG00000183072	ENST00000329198	D	0.90197	-2.63	4.07	4.07	0.47477	.	.	.	.	.	T	0.75917	0.3915	N	0.14661	0.345	0.80722	D	1	P	0.47545	0.897	B	0.32724	0.151	T	0.76572	-0.2910	9	0.09590	T	0.72	.	11.6143	0.51080	0.0:1.0:0.0:0.0	.	273	P52952	NKX25_HUMAN	T	273	ENSP00000327758:A273T	ENSP00000327758:A273T	A	-	1	0	NKX2-5	172592336	0.895000	0.30542	0.787000	0.31911	0.085000	0.17905	1.416000	0.34759	2.083000	0.62718	0.542000	0.68232	GCT			0.672	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252942.2				T	172659730	C	T	172659730	3	4	35	1	0	0	0	0	1	0	0	0	10470	768	27	1	161	1	NKX2-5	5	172659730	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	161262569	172659730	8255530	20	2445											
GPRIN1	114787	broad.mit.edu;mdanderson.org	37	chr5	176024694	176024694	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggcttggtcttctccagActcagggggaccaccttccc	6	9	11	15	1	3	1	1	0	2	1	5	3	4	2	4	4	0	1	4	4	0	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr5:176024694A>C	ENST00000303991.4	-	2	2319	c.2142T>G	c.(2140-2142)agT>agG	p.S714R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	714					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTCTCCAGACTCAGGGGGA	0.642																																					p.S714R													.	GPRIN1	77		0			c.T2142G												59	61	60					5																	176024694		2203	4300	6503	SO:0001583	missense	114787	exon2			CTCCAGACTCAGG	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.2142T>G	5.37:g.176024694A>C	ENSP00000305839:p.Ser714Arg		35	0	0		33	0.24	8	NM_052899	8	0.13	1	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788010	0.31593	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.09445	2.98	4.36	-4.41	0.03590	.	2.270560	0.02154	N	0.058253	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.17979	0.02	T	0.37641	-0.9697	10	0.30854	T	0.27	4.9054	8.8996	0.35485	0.3636:0.0:0.5221:0.1143	.	714	Q7Z2K8	GRIN1_HUMAN	R	714	ENSP00000305839:S714R	ENSP00000305839:S714R	S	-	3	2	GPRIN1	175957300	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.115000	0.10741	-0.584000	0.05913	0.374000	0.22700	AGT			0.642	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253149.1		NM_052899		C	176024694	A	C	176024694	3	2	35	1	0	0	0	0	1	0	0	0	6744	272	10	4	888	4	GPRIN1	5	176024694	Missense_Mutation	SNP	A	TCGA-2G-AAGO-01A-11D-A42Y-10	3364964	176024694	4890566	21	2446											
HK3	3101	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr5	176316733	176316733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcaccacagcaaccacgtCgatgttgtaggcctagatga	11	9	10	11	2	1	2	1	1	0	1	2	3	1	2	3	1	2	4	3	1	3	4			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr5:176316733C>T	ENST00000292432.5	-	7	734	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	215	Hexokinase type-1 1.|Regulatory.				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)			GCAACCACGTCGATGTTGTAG	0.617																																					p.D215N													.	.			0			c.G643A												144	123	130					5																	176316733		2203	4300	6503	SO:0001583	missense	3101	exon7			CCACGTCGATGTT		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.643G>A	5.37:g.176316733C>T	ENSP00000292432:p.Asp215Asn		49	0	0		48	0.15	7	NM_002115	2	0	0	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488840	0.64074	.	.	ENSG00000160883	ENST00000292432	D	0.98996	-5.31	5.56	4.62	0.57501	Hexokinase, N-terminal (1);	0.905303	0.09408	N	0.806288	D	0.97964	0.9330	L	0.35288	1.05	0.36177	D	0.849184	D	0.52996	0.957	P	0.51324	0.666	D	0.95436	0.8521	10	0.35671	T	0.21	-2.3086	12.5946	0.56461	0.0:0.9098:0.0:0.0902	.	215	P52790	HXK3_HUMAN	N	215	ENSP00000292432:D215N	ENSP00000292432:D215N	D	-	1	0	HK3	176249339	0.592000	0.26832	0.006000	0.13384	0.231000	0.25187	1.886000	0.39688	1.201000	0.43203	0.462000	0.41574	GAC			0.617	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253428.1				T	176316733	C	T	176316733	3	4	35	1	0	0	0	0	1	0	0	0	7207	884	31	1	2180	1	HK3	5	176316733	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	292039	176316733	4598527	22	2447											
NUP153	9972	mdanderson.org	37	chr6	17688695	17688695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattagagctctcctcatcgGcatataccagatggtcctct	9	13	7	12	1	3	2	1	0	2	2	6	2	4	2	3	2	2	2	3	2	4	4			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr6:17688695G>A	ENST00000262077.2	-	2	265	c.266C>T	c.(265-267)gCc>gTc	p.A89V	NUP153_ENST00000537253.1_Missense_Mutation_p.A89V	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	89					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 RNA export from nucleus (GO:0046832)|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 entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTCCTCATCGGCATATACCAG	0.413																																					p.A89V													.	.			0			c.C266T												125	118	120					6																	17688695		2203	4300	6503	SO:0001583	missense	9972	exon2			TCATCGGCATATA	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.266C>T	6.37:g.17688695G>A	ENSP00000262077:p.Ala89Val		99	0.0101010101	1		133	0.04	5	NM_005124	105	0	0	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	1.629	-0.519594	0.04171	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.06608	3.29;3.28	5.37	2.54	0.30619	.	0.794432	0.10937	N	0.617747	T	0.00496	0.0016	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.0	B;B;B	0.11329	0.006;0.003;0.002	T	0.44847	-0.9301	10	0.12103	T	0.63	0.2509	3.5064	0.07692	0.1519:0.1326:0.5788:0.1367	.	89;111;89	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	V	89;111;89	ENSP00000262077:A89V;ENSP00000444029:A89V	ENSP00000262077:A89V	A	-	2	0	NUP153	17796674	0.063000	0.20901	0.000000	0.03702	0.002000	0.02628	1.229000	0.32600	0.206000	0.20587	-0.145000	0.13849	GCC			0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039953.1				A	17688695	G	A	17688695	3	1	35	1	0	0	0	0	1	0	0	0	10772	1203	42	2	4245	2	NUP153	6	17688695	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		17688695	153426372	23	2448											
KLHDC3	116138	broad.mit.edu	37	chr6	42985386	42985386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcctttggggcgggcGgaatgacaccgaaggggcct	7	7	16	11	3	0	1	0	1	0	0	2	3	2	2	4	6	0	0	4	6	2	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr6:42985386G>T	ENST00000326974.4	+	3	479	c.284G>T	c.(283-285)cGg>cTg	p.R95L	KLHDC3_ENST00000332245.8_Intron|KLHDC3_ENST00000244670.8_5'UTR	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	95					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)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGGGCGGGCGGAATGACACC	0.562																																					p.R95L													.	KLHDC3	23		0			c.G284T												75	74	74					6																	42985386		2203	4300	6503	SO:0001583	missense	116138	exon3			GCGGGCGGAATGA	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.284G>T	6.37:g.42985386G>T	ENSP00000313995:p.Arg95Leu		95	0	0		105	0.05	5	NM_057161	362	0	0	A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787467	0.90367	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000426116	T	0.64085	-0.08	5.4	5.4	0.78164	Kelch-type beta propeller (1);	0.059263	0.64402	D	0.000002	T	0.74726	0.3754	M	0.66297	2.02	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72075	0.968;0.976	T	0.75331	-0.3355	10	0.59425	D	0.04	.	19.5531	0.95330	0.0:0.0:1.0:0.0	.	95;95	E7ENU0;Q9BQ90	.;KLDC3_HUMAN	L	95;95;95;68	ENSP00000313995:R95L	ENSP00000313995:R95L	R	+	2	0	KLHDC3	43093364	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.271000	0.95698	2.701000	0.92244	0.655000	0.94253	CGG			0.562	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040570.1		NM_057161		T	42985386	G	T	42985386	3	4	35	1	0	0	0	0	1	0	0	0	8372	1116	39	1	290	1	KLHDC3	6	42985386	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	25296691	42985386	128129681	24	2449											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	51512912	51512912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccagggactctactcttCgattctagaaatgggaatag	11	11	10	9	1	3	1	0	0	3	1	5	4	4	3	1	2	1	0	1	2	5	5			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr6:51512912C>T	ENST00000371117.3	-	63	11590	c.11315G>A	c.(11314-11316)cGa>cAa	p.R3772Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3772					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)					CTCTACTCTTCGATTCTAGAA	0.413																																					p.R3772Q													.	.			0			c.G11315A												86	88	88					6																	51512912		2203	4300	6503	SO:0001583	missense	5314	exon63			ACTCTTCGATTCT	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.11315G>A	6.37:g.51512912C>T	ENSP00000360158:p.Arg3772Gln		81	0	0		80	0.26	21	NM_138694	0		0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228756	0.39399	.	.	ENSG00000170927	ENST00000371117	D	0.85556	-2.0	5.24	1.46	0.22682	.	0.641631	0.14441	N	0.319411	T	0.52435	0.1734	N	0.20401	0.57	0.53005	D	0.999969	B	0.22480	0.07	B	0.11329	0.006	T	0.32955	-0.9887	10	0.15499	T	0.54	.	7.7819	0.29070	0.0:0.5695:0.0:0.4305	.	3772	P08F94	PKHD1_HUMAN	Q	3772	ENSP00000360158:R3772Q	ENSP00000360158:R3772Q	R	-	2	0	PKHD1	51620871	0.004000	0.15560	0.942000	0.38095	0.848000	0.48234	-0.869000	0.04232	-0.023000	0.13963	0.650000	0.86243	CGA			0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040893.1		NM_138694		T	51512912	C	T	51512912	3	4	35	1	0	0	0	0	1	0	0	0	11988	884	31	1	929	1	PKHD1	6	51512912	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	8527526	51512912	119602155	25	2450											
IRAK1BP1	134728	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	79577463	79577463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgcgaggtgcaagtaagcgGcacctcagaagtgtctgcgg	9	6	15	11	4	2	1	1	0	1	1	2	2	2	1	2	3	3	3	2	3	3	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr6:79577463G>A	ENST00000369940.2	+	1	275	c.170G>A	c.(169-171)gGc>gAc	p.G57D		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	57	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		CAAGTAAGCGGCACCTCAGAA	0.637																																					p.G57D													.	IRAK1BP1	18		0			c.G170A												40	40	40					6																	79577463		2203	4300	6503	SO:0001583	missense	134728	exon1			TAAGCGGCACCTC	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.170G>A	6.37:g.79577463G>A	ENSP00000358956:p.Gly57Asp		96	0.0104166667	1		87	0.3	26	NM_001010844	7	0.43	3		Missense_Mutation	SNP	ENST00000369940.2	37	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296133	0.60086	.	.	ENSG00000146243	ENST00000369940	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.71550	0.3353	M	0.69823	2.125	0.51767	D	0.999937	D	0.89917	1.0	D	0.97110	1.0	T	0.72760	-0.4196	8	.	.	.	-6.7271	14.408	0.67096	0.0:0.0:1.0:0.0	.	57	Q5VVH5	IKBP1_HUMAN	D	57	.	.	G	+	2	0	IRAK1BP1	79634182	1.000000	0.71417	0.784000	0.31847	0.146000	0.21551	3.842000	0.55858	2.225000	0.72522	0.561000	0.74099	GGC			0.637	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041296.2		XM_059729		A	79577463	G	A	79577463	3	1	35	1	0	0	0	0	1	0	0	0	7837	1203	42	2	172	2	IRAK1BP1	6	79577463	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	28064551	79577463	91537604	26	2451											
OPRM1	4988	mdanderson.org	37	chr6	154428665	154428665	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactgagctacaatgcaggGcagtctccatttcccttccc	8	10	7	16	0	1	1	0	1	1	0	4	1	3	1	4	1	3	3	4	1	2	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr6:154428665G>A	ENST00000330432.7	+	4	1401				OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000419506.2_Silent_p.G410G|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000435918.2_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	acaatgcagggcagtctccat	0.408																																					p.G410G													.	.			0			c.G1230A												140	130	133					6																	154428665		692	1591	2283	SO:0001627	intron_variant	4988	exon4			TGCAGGGCAGTCT	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1165-11153G>A	6.37:g.154428665G>A			58	0	0		53	0.06	3	NM_001145286	0		0	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	CCDS55070.1																																																																																					0.408	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000042786.2		NM_000914		A	154428665	G	A	154428665	1	1	35	0	1	0	0	0	0	0	0	0	10904	1190	42	2		2	OPRM1	6	154428665	Intron	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	74851202	154428665	16686402	27	2452											
SRPK2	6733	broad.mit.edu	37	chr7	104844187	104844187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggtggtggtggtggCggtggaggaggaggaactaa	7	7	24	3	2	0	0	0	0	0	0	0	4	0	4	0	12	1	0	0	12	2	1	rs150640356		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr7:104844187C>T	ENST00000393651.3	-	3	204	c.117G>A	c.(115-117)ccG>ccA	p.P39P	SRPK2_ENST00000357311.3_Silent_p.P28P|SRPK2_ENST00000489828.1_Silent_p.P28P	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						gtggtggtggcggtggAGGAG	0.552																																					p.P39P													.	SRPK2	76		0			c.G117A							C	,	1,4405	2.1+/-5.4	0,1,2202	51	46	47		84,117	-8.9	0	7	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SRPK2	NM_182691.1,NM_182692.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	28/689,39/700	104844187	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6733	exon3			TGGTGGCGGTGGA	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.117G>A	7.37:g.104844187C>T			74	0.0135135135	1		117	0.05	6	NM_182692	83	0	0		Silent	SNP	ENST00000393651.3	37	CCDS34724.1																																																																																					0.552	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000348723.1		NM_182691		T	104844187	C	T	104844187	2	4	35	1	0	0	0	0	0	0	0	1	15183	755	27	1		1	SRPK2	7	104844187	Silent	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10		104844187	54294476	28	2453											
XRCC2	7516	broad.mit.edu;mdanderson.org	37	chr7	152357797	152357797	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttaccatgcacaggtGaatcttcatcagcaaacaga	14	12	6	9	0	3	2	2	1	1	1	3	2	3	2	1	1	4	2	1	1	3	4			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr7:152357797G>T	ENST00000359321.1	-	2	195	c.110C>A	c.(109-111)tCa>tAa	p.S37*	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	37					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ATGCACAGGTGAATCTTCATC	0.333								Homologous recombination																													p.S37X													.	XRCC2	30		0			c.C110A												65	72	70					7																	152357797		2203	4300	6503	SO:0001587	stop_gained	7516	exon2			ACAGGTGAATCTT	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"RAD51-like"	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.110C>A	7.37:g.152357797G>T	ENSP00000352271:p.Ser37*		50	0	0		80	0.06	5	NM_005431	47	0	0	B2R925	Nonsense_Mutation	SNP	ENST00000359321.1	37	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684706	0.96784	.	.	ENSG00000196584	ENST00000359321	.	.	.	4.98	3.13	0.36017	.	0.376195	0.26251	N	0.025460	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-4.878	6.6122	0.22757	0.0921:0.0:0.7281:0.1798	.	.	.	.	X	37	.	ENSP00000352271:S37X	S	-	2	0	XRCC2	151988730	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.393000	0.34497	1.061000	0.40601	0.563000	0.77884	TCA			0.333	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322783.1		NM_005431		T	152357797	G	T	152357797	4	4	35	1	0	0	0	0	0	1	0	0	17477	1294	45	3	740	3	XRCC2	7	152357797	Nonsense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	47513610	152357797	6780866	29	2454											
WRN	7486	hgsc.bcm.edu	37	chr8	30945390	30945390	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctactaaagaagaagaagaAgatgatgaaaatgaagctaa	22	6	9	4	0	0	8	0	3	0	5	0	8	0	8	1	0	2	1	1	0	11	3	rs149565907	byFrequency	TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr8:30945390A>T	ENST00000298139.5	+	12	1779	c.1530A>T	c.(1528-1530)gaA>gaT	p.E510D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				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)		aagaagaagaagatgatgaaa	0.373			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A|||	19	0.00379393	0	0	5008	,	,		18765	0.0169		0	False		,,,				2504	0.002				p.E510D	Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	WRN,NS,carcinoma,0,1	WRN	0	1	0			c.A1530T							A	ASP/GLU	0,4406		0,0,2203	76	72	73		1530		0.9	8	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense	WRN	NM_000553.4	45	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	510/1433	30945390	1,13005	2203	4300	6503	SO:0001583	missense	7486	exon12	Familial Cancer Database	WS, Adult Progeria	AGAAGAAGATGAT		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.1530A>T	8.37:g.30945390A>T	ENSP00000298139:p.Glu510Asp		53	0	0		62	0.05	3	NM_000553	20	0	0	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	A	0.001	-3.733300	0.00005	0.0	1.16E-4	ENSG00000165392	ENST00000298139	T	0.43688	0.94	.	.	.	.	0.540108	0.15136	N	0.278577	T	0.05044	0.0135	N	0.00621	-1.32	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	8	0.02654	T	1	-5.6664	.	.	.	.	510	Q14191	WRN_HUMAN	D	510	ENSP00000298139:E510D	ENSP00000298139:E510D	E	+	3	2	WRN	31064932	0.898000	0.30612	0.889000	0.34880	0.359000	0.29487	-0.189000	0.09629	-1.869000	0.01141	-1.957000	0.00481	GAA	0.001		0.373	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376248.1				T	30945390	A	T	30945390	3	4	35	1	0	0	0	0	1	0	0	0	17426	69	3	5	1572	5	WRN	8	30945390	Missense_Mutation	SNP	A	TCGA-2G-AAGO-01A-11D-A42Y-10		30945390	115418632	30	2455											
YTHDF3	253943	broad.mit.edu	37	chr8	64099415	64099415	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggaacttgggatgaaaaAgggtcagtggtaaaggctcc	13	9	14	5	0	1	1	1	1	0	0	2	3	2	3	1	5	1	2	1	5	5	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr8:64099415A>G	ENST00000539294.1	+	4	1159	c.843A>G	c.(841-843)aaA>aaG	p.K281K	YTHDF3_ENST00000542911.2_Silent_p.K92K|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	282							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GGGATGAAAAAGGGTCAGTGG	0.463																																					.													.	YTHDF3	13		0			.												61	66	64					8																	64099415		1952	4150	6102	SO:0001819	synonymous_variant	253943	.			TGAAAAAGGGTCA	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"YTH domain family 3"			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.843A>G	8.37:g.64099415A>G			139	0.0143884892	2		152	0.02	3	.	130	0	0	B3KXL4|Q63Z37|Q659A3	Silent	SNP	ENST00000539294.1	37																																																																																						0.463	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_152758		G	64099415	A	G	64099415	2	3	35	1	0	0	0	0	0	0	0	1	17524	72	3	4		4	YTHDF3	8	64099415	Silent	SNP	A	TCGA-2G-AAGO-01A-11D-A42Y-10	33154025	64099415	82264607	31	2456											
MAPK15	225689	broad.mit.edu	37	chr8	144803971	144803971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccctgacctcccaggctgCggctcaggtggccaaccagg	6	6	12	17	1	1	1	1	1	0	0	3	1	3	1	5	5	2	2	5	5	1	0			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr8:144803971C>T	ENST00000338033.4	+	13	1498	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	460					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			TCCCAGGCTGCGGCTCAGGTG	0.687																																					p.A460V													MAPK15,bladder,carcinoma,-1,1	MAPK15	32	1	0			c.C1379T												36	46	42					8																	144803971		2003	4138	6141	SO:0001583	missense	225689	exon13			AGGCTGCGGCTCA	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1379C>T	8.37:g.144803971C>T	ENSP00000337691:p.Ala460Val		71	0	0		87	0.03	3	NM_139021	3	0	0	Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	c	3.609	-0.080014	0.07141	.	.	ENSG00000181085	ENST00000338033	T	0.73681	-0.77	3.23	1.34	0.21922	.	0.646760	0.13722	U	0.367328	T	0.49064	0.1535	N	0.14661	0.345	0.09310	N	0.999998	B	0.25312	0.123	B	0.15484	0.013	T	0.27297	-1.0078	10	0.31617	T	0.26	-9.8294	2.0728	0.03618	0.1985:0.4874:0.1941:0.12	.	460	Q8TD08	MK15_HUMAN	V	460	ENSP00000337691:A460V	ENSP00000337691:A460V	A	+	2	0	MAPK15	144875959	0.002000	0.14202	0.014000	0.15608	0.007000	0.05969	0.549000	0.23329	0.082000	0.17018	-0.676000	0.03789	GCG			0.687	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000300348.1		NM_139021		T	144803971	C	T	144803971	3	4	35	1	0	0	0	0	1	0	0	0	9293	768	27	1	1429	1	MAPK15	8	144803971	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	80704556	144803971	1560051	32	2457											
FLJ46321	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	84609192	84609192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatccgtgtggcacagaaGcaggagcccagggtccctac	10	5	14	12	1	0	1	0	0	0	1	2	3	2	3	3	4	3	2	3	4	3	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr9:84609192G>A	ENST00000344803.2	+	4	3854	c.3807G>A	c.(3805-3807)aaG>aaA	p.K1269K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1269					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGCACAGAAGCAGGAGCCCA	0.537																																					p.K1269K													.	.			0			c.G3807A												93	92	92					9																	84609192		2001	4175	6176	SO:0001819	synonymous_variant	389763	exon4			ACAGAAGCAGGAG		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3807G>A	9.37:g.84609192G>A			56	0	0		85	0.34	29	NM_001001670	0		0		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																					0.537	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402325.1		NM_001001670		A	84609192	G	A	84609192	2	1	35	1	0	0	0	0	0	0	0	1	5945	962	34	2		2	FLJ46321	9	84609192	Silent	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		84609192	56604239	33	2458											
C9orf6	54942	broad.mit.edu	37	chr9	111696846	111696846	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactcgctggtacaaaccggGtaagtgcggagtgatgttga	10	9	14	8	3	0	2	0	2	0	0	1	3	0	3	1	3	3	4	1	3	3	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr9:111696846G>T	ENST00000322940.6	+	1	385		c.e1+1		IKBKAP_ENST00000537196.1_5'Flank|FAM206A_ENST00000466200.1_Splice_Site|IKBKAP_ENST00000374647.5_5'Flank|FAM206A_ENST00000374624.3_Splice_Site	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A							nucleus (GO:0005634)											TACAAACCGGGTAAGTGCGGA	0.617																																					.													.	.			0			c.79+1G>T												67	47	54					9																	111696846		2203	4300	6503	SO:0001630	splice_region_variant	54942	exon1			AACCGGGTAAGTG	BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 6"	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.79+1G>T	9.37:g.111696846G>T			189	0	0		188	0.03	5	NM_017832	0		0	Q5JTR0|Q5JTR1	Splice_Site	SNP	ENST00000322940.6	37	CCDS6774.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716823	0.89205	.	.	ENSG00000119328	ENST00000322940;ENST00000374624;ENST00000445175	.	.	.	5.26	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0054	0.41953	0.0942:0.0:0.9058:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C9orf6	110736667	1.000000	0.71417	0.909000	0.35828	0.751000	0.42716	7.251000	0.78297	1.357000	0.45904	0.655000	0.94253	.			0.617	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053582.1		NM_017832	Intron	T	111696846	G	T	111696846	5	4	35	1	0	0	0	0	0	0	1	0	2490	1275	44	3	82	3	C9orf6	9	111696846	Splice_Site	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	27087654	111696846	29516585	34	2459											
TRIM32	22954	mdanderson.org	37	chr9	119460603	119460603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgggcatgaggagcgcagGgtccaggatgagctggctcg	8	7	18	8	2	0	2	0	2	0	0	2	4	1	4	1	5	2	4	1	5	1	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr9:119460603G>T	ENST00000450136.1	+	2	743	c.582G>T	c.(580-582)agG>agT	p.R194S	ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R194S|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	194					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						AGGAGCGCAGGGTCCAGGATG	0.557																																					p.R194S	Esophageal Squamous(92;212 1916 19711 26951)												.	.			0			c.G582T												60	61	61					9																	119460603		2203	4300	6503	SO:0001583	missense	22954	exon2			GCGCAGGGTCCAG	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.582G>T	9.37:g.119460603G>T	ENSP00000408292:p.Arg194Ser		38	0	0		49	0.06	3	NM_012210	17	0	0	Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	6.107	0.387936	0.11581	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.68181	-0.31;-0.31	5.36	3.43	0.39272	.	0.145674	0.38605	N	0.001625	T	0.46054	0.1373	N	0.24115	0.695	0.32813	D	0.501706	B	0.10296	0.003	B	0.08055	0.003	T	0.43750	-0.9372	9	.	.	.	-17.6144	6.2533	0.20859	0.1712:0.1509:0.6779:0.0	.	194	Q13049	TRI32_HUMAN	S	194	ENSP00000408292:R194S;ENSP00000363095:R194S	.	R	+	3	2	TRIM32	118500424	1.000000	0.71417	0.978000	0.43139	0.952000	0.60782	1.238000	0.32707	0.527000	0.28560	0.655000	0.94253	AGG			0.557	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055466.2		NM_012210		T	119460603	G	T	119460603	3	4	35	1	0	0	0	0	1	0	0	0	16530	1223	43	3	584	3	TRIM32	9	119460603	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	7763757	119460603	21752828	35	2460											
DENND1A	57706	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	126144051	126144051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtgcccatgggcatctggCcaaagaggttgggcatggag	8	7	18	8	0	1	1	0	0	1	1	1	2	1	2	2	6	1	3	2	6	1	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr9:126144051C>T	ENST00000373624.2	-	22	2891	c.2690G>A	c.(2689-2691)gGc>gAc	p.G897D	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.G908D|DENND1A_ENST00000542603.1_Missense_Mutation_p.G682D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	897	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGCATCTGGCCAAAGAGGTT	0.667																																					p.G897D													.	DENND1A	112		0			c.G2690A												6	7	7					9																	126144051		2086	4141	6227	SO:0001583	missense	57706	exon22			ATCTGGCCAAAGA	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2690G>A	9.37:g.126144051C>T	ENSP00000362727:p.Gly897Asp		184	0.0054347826	1		173	0.16	28	NM_020946	8	0.13	1	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577013	0.65878	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.27557	3.1;1.66;2.96	4.79	4.79	0.61399	.	0.143568	0.46145	D	0.000301	T	0.42607	0.1210	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.986;0.976	D;D;P;P	0.65443	0.913;0.935;0.722;0.601	T	0.35574	-0.9783	10	0.62326	D	0.03	-20.8296	14.3736	0.66857	0.0:0.8515:0.1485:0.0	.	908;898;897;760	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	D	897;682;908	ENSP00000362727:G897D;ENSP00000437457:G682D;ENSP00000377766:G908D	ENSP00000362727:G897D	G	-	2	0	DENND1A	125183872	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.983000	0.56916	2.222000	0.72286	0.555000	0.69702	GGC			0.667	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000053997.1		NM_024820		T	126144051	C	T	126144051	3	4	35	1	0	0	0	0	1	0	0	0	4431	739	26	2	343	2	DENND1A	9	126144051	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	6683448	126144051	15069380	36	2461											
UBTD1	80019	mdanderson.org	37	chr10	99329931	99329931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacgatgagctgggcaatcGctaccagctgcccatctact	9	9	9	14	2	1	1	0	1	1	0	2	2	1	1	2	1	6	4	2	1	4	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr10:99329931G>A	ENST00000370664.3	+	3	671	c.335G>A	c.(334-336)cGc>cAc	p.R112H	ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	112										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CTGGGCAATCGCTACCAGCTG	0.602																																					p.R112H	Pancreas(100;169 2668 32720)												UBTD1,colon,carcinoma,0,2	UBTD1	0	2	0			c.G335A												76	86	83					10																	99329931		2203	4300	6503	SO:0001583	missense	80019	exon3			GCAATCGCTACCA	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.335G>A	10.37:g.99329931G>A	ENSP00000359698:p.Arg112His		50	0	0		42	0.07	3	NM_024954	72	0	0	D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656311	0.67586	.	.	ENSG00000165886	ENST00000370664	T	0.47177	0.85	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.57118	-0.7866	10	0.26408	T	0.33	-21.8286	18.6768	0.91531	0.0:0.0:1.0:0.0	.	112	Q9HAC8	UBTD1_HUMAN	H	112	ENSP00000359698:R112H	ENSP00000359698:R112H	R	+	2	0	UBTD1	99319921	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.813000	0.99286	2.687000	0.91594	0.655000	0.94253	CGC			0.602	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049701.1		NM_024954		A	99329931	G	A	99329931	3	1	35	1	0	0	0	0	1	0	0	0	16931	1087	38	1	345	1	UBTD1	10	99329931	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		99329931	36204816	37	2462											
TCF7L2	6934	broad.mit.edu	37	chr10	114925530	114925530	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgatgcctccgccaccCgccctcctgctcgctgaggc	4	8	9	20	3	0	2	0	2	0	0	4	2	3	2	7	1	2	2	7	1	0	0			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr10:114925530C>A	ENST00000355995.4	+	15	2166	c.1659C>A	c.(1657-1659)ccC>ccA	p.P553P	TCF7L2_ENST00000369397.4_Silent_p.P530P|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.P553P|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.P536P|TCF7L2_ENST00000543371.1_Silent_p.P536P|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000542695.1_Silent_p.P269P			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	553					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)		CTCCGCCACCCGCCCTCCTGC	0.706			T	VTI1A	colorectal																																p.P536P				Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	TCF7L2	298		0			c.C1608A												44	50	48					10																	114925530		2203	4300	6503	SO:0001819	synonymous_variant	6934	exon14			GCCACCCGCCCTC	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.1659C>A	10.37:g.114925530C>A			124	0.0080645161	1		126	0.02	3	NM_001146274	34	0	0	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																																																																																						0.706	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding				NM_030756		A	114925530	C	A	114925530	2	1	35	1	0	0	0	0	0	0	0	1	15721	639	23	1		1	TCF7L2	10	114925530	Silent	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	15595599	114925530	20609217	38	2463											
HSPA12A	259217	mdanderson.org	37	chr10	118439125	118439125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttctgtctggggcagccGcccttttgcgagactcaaac	7	11	11	12	2	3	1	1	0	2	1	3	2	3	1	2	2	3	2	2	2	2	4	rs368507473	byFrequency	TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr10:118439125G>T	ENST00000369209.3	-	10	1279	c.1175C>A	c.(1174-1176)gCg>gAg	p.A392E		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	392						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGGGCAGCCGCCCTTTTGCG	0.483																																					p.A392E													HSPA12A,colon,carcinoma,0,1	HSPA12A	0	1	0			c.C1175A												114	114	114					10																	118439125		1911	4128	6039	SO:0001583	missense	259217	exon10			GCAGCCGCCCTTT	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1175C>A	10.37:g.118439125G>T	ENSP00000358211:p.Ala392Glu		119	0	0		95	0.05	5	NM_025015	3	0	0		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122393	0.94429	.	.	ENSG00000165868	ENST00000369209	T	0.29397	1.57	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	N	0.20304	0.555	0.80722	D	1	P	0.52316	0.952	P	0.56042	0.79	T	0.02512	-1.1148	10	0.17369	T	0.5	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	392	O43301	HS12A_HUMAN	E	392	ENSP00000358211:A392E	ENSP00000358211:A392E	A	-	2	0	HSPA12A	118429115	1.000000	0.71417	0.856000	0.33681	0.780000	0.44128	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GCG			0.483	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050530.1		NM_025015		T	118439125	G	T	118439125	3	4	35	1	0	0	0	0	1	0	0	0	7419	1087	38	1	864	1	HSPA12A	10	118439125	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	3513595	118439125	17095622	39	2464											
SCGB2A2	4250	mdanderson.org	37	chr11	62038534	62038534	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctgagcaatgttgaggtGtttatggtaatttcattttc	9	18	9	5	0	2	2	1	2	1	0	3	2	2	2	0	2	1	4	0	2	3	7			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr11:62038534G>T	ENST00000227918.2	+	2	299	c.237G>T	c.(235-237)gtG>gtT	p.V79V	SCGB2A2_ENST00000525380.1_Silent_p.V79V	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	79										large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						ATGTTGAGGTGTTTATGGTAA	0.393																																					p.V79V													.	.			0			c.G237T												155	154	154					11																	62038534		2202	4299	6501	SO:0001819	synonymous_variant	4250	exon2			TGAGGTGTTTATG	AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"Secretoglobins"	7050	protein-coding gene	gene with protein product	"mammaglobin A"	605562	"mammaglobin 1"	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	ENST00000227918.2:c.237G>T	11.37:g.62038534G>T			46	0	0		48	0.06	3	NM_002411	0		0	A1A522|Q86WH8	Silent	SNP	ENST00000227918.2	37	CCDS8018.1																																																																																					0.393	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394860.1		NM_002411		T	62038534	G	T	62038534	2	4	35	1	0	0	0	0	0	0	0	1	13923	1364	48	3		3	SCGB2A2	11	62038534	Silent	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		62038534	72967982	40	2465											
C11orf20	25858	mdanderson.org	37	chr11	64071021	64071021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgagcctactgggcagaGcagcagagcagggttggagg	10	5	17	9	1	0	2	0	0	0	2	1	4	0	3	1	4	5	5	1	4	1	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr11:64071021G>T	ENST00000328404.6	+	3	440	c.420G>T	c.(418-420)gaG>gaT	p.E140D	ESRRA_ENST00000405666.1_5'Flank|ESRRA_ENST00000000442.6_5'Flank|TEX40_ENST00000539943.1_Missense_Mutation_p.E98D|RP11-783K16.10_ENST00000539086.1_RNA|ESRRA_ENST00000406310.1_5'Flank	NM_001039496.1	NP_001034585.1	Q9NTU4	TEX40_HUMAN	testis expressed 40	140					cell differentiation (GO:0030154)|male meiosis (GO:0007140)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)											ACTGGGCAGAGCAGCAGAGCA	0.532																																					p.E140D													.	.			0			c.G420T												45	47	47					11																	64071021		1981	4155	6136	SO:0001583	missense	25858	exon3			GGCAGAGCAGCAG			11q13.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000219435	ENSG00000219435			19231	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 20"	C11orf20			Standard	NM_001039496		Approved	DKFZP566E164	uc009ypm.3	Q9NTU4	OTTHUMG00000167820	ENST00000328404.6:c.420G>T	11.37:g.64071021G>T	ENSP00000330877:p.Glu140Asp		64	0	0		43	0.07	3	NM_001039496	9	0	0		Missense_Mutation	SNP	ENST00000328404.6	37		.	.	.	.	.	.	.	.	.	.	G	19.24	3.788591	0.70337	.	.	ENSG00000219435	ENST00000328404;ENST00000539943	T;T	0.59638	0.26;0.25	4.29	0.266	0.15617	.	.	.	.	.	T	0.61248	0.2332	L	0.32530	0.975	0.25129	N	0.990586	D	0.89917	1.0	D	0.91635	0.999	T	0.51164	-0.8740	9	0.87932	D	0	-20.4708	6.7581	0.23526	0.4068:0.0:0.5932:0.0	.	140	Q9NTU4	CK020_HUMAN	D	140;98	ENSP00000330877:E140D;ENSP00000443917:E98D	ENSP00000330877:E140D	E	+	3	2	C11orf20	63827597	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	1.463000	0.35277	-0.029000	0.13827	0.561000	0.74099	GAG			0.532	TEX40-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001039496		T	64071021	G	T	64071021	3	4	35	1	0	0	0	0	1	0	0	0	1636	962	34	2	430	2	C11orf20	11	64071021	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	2032487	64071021	70935495	41	2466											
PC	5091	mdanderson.org	37	chr11	66639190	66639190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgtctgggatgtgcaGgtaggcctgcacgggggcca	7	8	18	8	1	1	1	0	1	1	0	1	3	1	2	2	5	2	3	2	5	1	1	rs368549197		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr11:66639190G>T	ENST00000393958.2	-	4	382	c.289C>A	c.(289-291)Ctg>Atg	p.L97M	PC_ENST00000393955.2_Missense_Mutation_p.L97M|PC_ENST00000524491.1_Missense_Mutation_p.L57M|PC_ENST00000355677.3_Missense_Mutation_p.L97M|PC_ENST00000393960.1_Missense_Mutation_p.L97M	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	97	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)	GGGATGTGCAGGTAGGCCTGC	0.642																																					p.L97M													.	.			0			c.C289A							G	MET/LEU,MET/LEU,MET/LEU	0,4368		0,0,2184	23	25	24		289,289,289	4.4	1	11		24	1,8541		0,1,4270	no	missense,missense,missense	PC	NM_000920.3,NM_001040716.1,NM_022172.2	15,15,15	0,1,6454	TT,TG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	97/1179,97/1179,97/1179	66639190	1,12909	2184	4271	6455	SO:0001583	missense	5091	exon4			TGTGCAGGTAGGC	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.289C>A	11.37:g.66639190G>T	ENSP00000377530:p.Leu97Met		29	0	0		26	0.08	2	NM_000920	29	0	0	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430554	0.83776	0.0	1.17E-4	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91	4.45	4.45	0.53987	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.64402	D	0.000017	D	0.98988	0.9655	M	0.93375	3.41	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99418	1.0932	10	0.87932	D	0	-14.0082	8.2574	0.31765	0.1058:0.0:0.8942:0.0	.	97	P11498	PYC_HUMAN	M	97;97;97;57;97	ENSP00000377527:L97M;ENSP00000377530:L97M;ENSP00000377532:L97M;ENSP00000434192:L57M;ENSP00000347900:L97M	ENSP00000347900:L97M	L	-	1	2	PC	66395766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.574000	0.67424	2.311000	0.77944	0.655000	0.94253	CTG			0.642	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393115.1		NM_001040716		T	66639190	G	T	66639190	3	4	35	1	0	0	0	0	1	0	0	0	11514	991	35	3	3323	3	PC	11	66639190	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	2568169	66639190	68367326	42	2467											
TCIRG1	10312	mdanderson.org	37	chr11	67818066	67818066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccgcctttgccgtgatGaccgtggctatcctgctggt	3	14	12	12	3	0	2	0	2	0	0	1	2	1	2	5	2	3	2	5	2	1	3	rs370231613		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr11:67818066G>T	ENST00000265686.3	+	19	2457	c.2349G>T	c.(2347-2349)atG>atT	p.M783I	TCIRG1_ENST00000532635.1_Missense_Mutation_p.M567I|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|TCIRG1_ENST00000530802.1_Intron|RP11-802E16.3_ENST00000534517.1_RNA|CHKA_ENST00000533728.1_5'Flank	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	783					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TTGCCGTGATGACCGTGGCTA	0.667																																					p.M783I													.	.			0			c.G2349T												122	126	124					11																	67818066		2200	4294	6494	SO:0001583	missense	10312	exon19			CGTGATGACCGTG	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2349G>T	11.37:g.67818066G>T	ENSP00000265686:p.Met783Ile		51	0	0		34	0.09	3	NM_006019	56	0	0	O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494048	0.26774	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.85013	-1.93;-1.93	4.12	3.12	0.35913	.	0.247466	0.33217	N	0.005151	T	0.67674	0.2918	N	0.03016	-0.435	0.30962	N	0.723556	B	0.16802	0.019	B	0.16722	0.016	T	0.70517	-0.4850	10	0.72032	D	0.01	-13.1264	12.5048	0.55975	0.0:0.0:0.8328:0.1672	.	783	Q13488	VPP3_HUMAN	I	783;567	ENSP00000265686:M783I;ENSP00000434407:M567I	ENSP00000265686:M783I	M	+	3	0	TCIRG1	67574642	1.000000	0.71417	0.867000	0.34043	0.229000	0.25112	0.822000	0.27352	2.286000	0.76751	0.462000	0.41574	ATG			0.667	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394305.1		NM_006019		T	67818066	G	T	67818066	3	4	35	1	0	0	0	0	1	0	0	0	15726	1290	45	3	2419	3	TCIRG1	11	67818066	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	1178876	67818066	67188450	43	2468											
UVRAG	7405	mdanderson.org	37	chr11	75852429	75852429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaacgtatccagcttccGccggccgcgcaggagttccg	8	7	12	14	6	0	1	0	1	0	0	3	2	3	2	5	2	2	4	5	2	3	3	rs569873877		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr11:75852429G>A	ENST00000356136.3	+	15	2313	c.2072G>A	c.(2071-2073)cGc>cAc	p.R691H	UVRAG_ENST00000531818.1_Missense_Mutation_p.R319H|UVRAG_ENST00000533454.1_Missense_Mutation_p.R319H|UVRAG_ENST00000532130.1_Missense_Mutation_p.R319H|UVRAG_ENST00000528420.1_Missense_Mutation_p.R590H|UVRAG_ENST00000539288.1_Missense_Mutation_p.R319H|UVRAG_ENST00000538870.1_Missense_Mutation_p.R247H	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	691					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TCCAGCTTCCGCCGGCCGCGC	0.502													G|||	1	0.000199681	8e-04	0	5008	,	,		19999	0		0	False		,,,				2504	0				p.R691H													UVRAG,NS,carcinoma,+1,1	UVRAG	1	1	0			c.G2072A												50	53	52					11																	75852429		2200	4292	6492	SO:0001583	missense	7405	exon15			GCTTCCGCCGGCC	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.2072G>A	11.37:g.75852429G>A	ENSP00000348455:p.Arg691His		44	0	0		32	0.09	3	NM_003369	55	0	0	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004423	0.74932	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.57107	0.42	5.99	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.60170	0.2248	L	0.36672	1.1	0.80722	D	1	P;D	0.67145	0.76;0.996	B;P	0.61132	0.191;0.884	T	0.64313	-0.6437	10	0.87932	D	0	-5.0674	14.3019	0.66359	0.0705:0.0:0.9295:0.0	.	247;691	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	H	691;590;319;319;319;319;247	ENSP00000348455:R691H	ENSP00000348455:R691H	R	+	2	0	UVRAG	75530077	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	7.607000	0.82883	1.549000	0.49425	-0.136000	0.14681	CGC			0.502	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383430.1		NM_003369		A	75852429	G	A	75852429	3	1	35	1	0	0	0	0	1	0	0	0	17132	1087	38	1	2130	1	UVRAG	11	75852429	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	8034363	75852429	59154087	44	2469											
FAT3	120114	broad.mit.edu;mdanderson.org	37	chr11	92086050	92086050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctttatgttcacattgagCgcataaatgaacatgcccca	13	11	7	10	1	1	2	1	2	0	0	1	2	1	2	2	0	4	3	2	0	4	5	rs538781318		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr11:92086050C>T	ENST00000298047.6	+	1	789	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	FAT3_ENST00000541502.1_Missense_Mutation_p.R258C|FAT3_ENST00000525166.1_Missense_Mutation_p.R108C|FAT3_ENST00000409404.2_Missense_Mutation_p.R258C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	258	Cadherin 2. {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)	p.R258C(2)|p.R258S(2)		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)				TCACATTGAGCGCATAAATGA	0.428										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	8e-04	0	5008	,	,		21189	0		0	False		,,,				2504	0				p.R258C													FAT3_ENST00000409404,NS,carcinoma,0,8	FAT3	1822	8	4	Substitution - Missense(4)	cervix(2)|lung(2)	c.C772T												186	178	181					11																	92086050		2000	4175	6175	SO:0001583	missense	120114	exon1			ATTGAGCGCATAA	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.772C>T	11.37:g.92086050C>T	ENSP00000298047:p.Arg258Cys		127	0	0		92	0.04	4	NM_001008781	1	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	18.34	3.603479	0.66445	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	4.83	4.83	0.62350	.	.	.	.	.	T	0.76557	0.4004	L	0.56769	1.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.78940	-0.2006	9	0.66056	D	0.02	.	17.2694	0.87097	0.0:1.0:0.0:0.0	.	258	Q8TDW7-3	.	C	258;258;258;108	ENSP00000298047:R258C;ENSP00000387040:R258C;ENSP00000443786:R258C;ENSP00000432586:R108C	ENSP00000298047:R258C	R	+	1	0	FAT3	91725698	1.000000	0.71417	0.953000	0.39169	0.741000	0.42261	7.752000	0.85141	2.359000	0.80004	0.557000	0.71058	CGC			0.428	FAT3-201	KNOWN	basic	protein_coding	protein_coding				NM_001008781		T	92086050	C	T	92086050	3	4	35	1	0	0	0	0	1	0	0	0	5704	768	27	1	774	1	FAT3	11	92086050	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	16233621	92086050	42920466	45	2470											
MLL2	8085	broad.mit.edu	37	chr12	49444814	49444814	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggttccccagggggAgggaacaagggcagctcctc	10	5	16	10	0	0	0	0	0	0	0	3	3	2	3	3	6	2	3	3	6	3	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr12:49444814A>G	ENST00000301067.7	-	10	2651	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	884	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P884P(1)									CCCCAGGGGGAGGGAACAAGG	0.642																																					p.P884P													MLL2_ENST00000301067,NS,carcinoma,0,1	MLL2	1173	1	1	Substitution - coding silent(1)	lung(1)	c.T2652C												50	56	54					12																	49444814		2012	4171	6183	SO:0001819	synonymous_variant	8085	exon10			AGGGGGAGGGAAC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2652T>C	12.37:g.49444814A>G			122	0	0		138	0.04	5	NM_003482	6	0	0	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																					0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390183.2				G	49444814	A	G	49444814	2	3	35	1	0	0	0	0	0	0	0	1	9637	291	11	4		4	MLL2	12	49444814	Silent	SNP	A	TCGA-2G-AAGO-01A-11D-A42Y-10		49444814	84407081	46	2471											
SLC12A6	9990	mdanderson.org	37	chr15	34549912	34549912	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcccaccacccatgtaagGcgtaaaaaaaggatcactcc	14	6	8	13	1	1	0	1	0	0	0	2	1	2	1	4	2	1	2	4	2	5	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr15:34549912G>T	ENST00000354181.3	-	6	1113	c.621C>A	c.(619-621)cgC>cgA	p.R207R	SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000558589.1_Silent_p.R198R|SLC12A6_ENST00000558667.1_Silent_p.R207R|SLC12A6_ENST00000397707.2_Silent_p.R192R|SLC12A6_ENST00000560164.1_Intron|SLC12A6_ENST00000397702.2_Silent_p.R148R|SLC12A6_ENST00000458406.2_Silent_p.R148R|SLC12A6_ENST00000290209.5_Silent_p.R156R|SLC12A6_ENST00000560611.1_Silent_p.R207R|RP11-1084A12.2_ENST00000559867.1_RNA			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	207					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)	CCCATGTAAGGCGTAAAAAAA	0.453																																					p.R207R													.	.			0			c.C621A												68	62	64					15																	34549912		2201	4298	6499	SO:0001819	synonymous_variant	9990	exon5			TGTAAGGCGTAAA	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.621C>A	15.37:g.34549912G>T			74	0	0		53	0.06	3	NM_133647	7	0	0	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	CCDS58352.1																																																																																					0.453	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000417991.1		NM_005135		T	34549912	G	T	34549912	2	4	35	1	0	0	0	0	0	0	0	1	14410	1190	42	2		2	SLC12A6	15	34549912	Silent	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		34549912	67981480	47	2472											
MYO1E	4643	mdanderson.org	37	chr15	59453379	59453379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaactgcacttgccgggagCcccctgcactccaggggccc	6	5	13	17	1	0	0	0	0	0	0	1	2	1	2	5	4	5	2	5	4	1	1	rs202237883		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr15:59453379C>T	ENST00000288235.4	-	24	3077	c.2678G>A	c.(2677-2679)gGc>gAc	p.G893D		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	893	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|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)		TTGCCGGGAGCCCCCTGCACT	0.562											OREG0023156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		15964	0		0.001	False		,,,				2504	0				p.G893D													.	.			0			c.G2678A							C	ASP/GLY	2,4380	4.2+/-10.8	0,2,2189	49	50	50		2678	5	1	15		50	3,8579	3.0+/-9.4	0,3,4288	no	missense	MYO1E	NM_004998.2	94	0,5,6477	TT,TC,CC		0.035,0.0456,0.0386	possibly-damaging	893/1109	59453379	5,12959	2191	4291	6482	SO:0001583	missense	4643	exon24			CGGGAGCCCCCTG	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.2678G>A	15.37:g.59453379C>T	ENSP00000288235:p.Gly893Asp		48	0	0	1038	38	0.08	3	NM_004998	77	0	0	Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367089	0.82463	4.56E-4	3.5E-4	ENSG00000157483	ENST00000288235	T	0.36520	1.25	5.04	5.04	0.67666	Myosin tail 2 (1);	0.096704	0.64402	D	0.000001	T	0.63462	0.2513	M	0.80508	2.5	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	T	0.67413	-0.5677	10	0.62326	D	0.03	.	18.5731	0.91144	0.0:1.0:0.0:0.0	.	893	Q12965	MYO1E_HUMAN	D	893	ENSP00000288235:G893D	ENSP00000288235:G893D	G	-	2	0	MYO1E	57240671	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.917000	0.69989	2.632000	0.89209	0.561000	0.74099	GGC			0.562	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416024.1		NM_004998		T	59453379	C	T	59453379	3	4	35	1	0	0	0	0	1	0	0	0	10088	739	26	2	668	2	MYO1E	15	59453379	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	24903467	59453379	43078013	48	2473											
SMAD6	4091	broad.mit.edu	37	chr15	66996088	66996090	+	In_Frame_Del	DEL	GCT	GCT	-																															agtcgcgaagcgcgctcgcgGctgctgctgctggagcagga																										TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr15:66996088_66996090delGCT	ENST00000288840.5	+	1	1523_1525	c.492_494delGCT	c.(490-495)cggctg>cgg	p.L168del	SMAD6_ENST00000457357.2_In_Frame_Del_p.L168del	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	168	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.|Poly-Leu.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CGCGCTCGCGGCTGCTGCTGCTG	0.759																																					p.164_165del	Esophageal Squamous(179;72 2004 22333 39628 47290)												.	SMAD6	14		0			c.492_494del																																									SO:0001651	inframe_deletion	4091	exon1			CTCGCGGCTGCTG	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"SMADs"	6772	protein-coding gene	gene with protein product		602931	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)", "SMAD, mothers against DPP homolog 6 (Drosophila)"	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.492_494delGCT	15.37:g.66996097_66996099delGCT	ENSP00000288840:p.Leu168del		6	0	0		6	0.33	2	NM_005585	3	0	0	A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	In_Frame_Del	DEL	ENST00000288840.5	37	CCDS10221.1																																																																																					0.759	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256953.2		NM_005585		-	66996090	GCT	-	66996088	7	5	35	1	0	1	0	1	0	0	0	0	14785	1190	42	0	494	0	SMAD6	15	66996088	In_Frame_Del	DEL	GCT	TCGA-2G-AAGO-01A-11D-A42Y-10	7542709	66996088	35535304	49	2474											
COX5A	9377	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr15	75219171	75219171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgtctgcatgcccgcaaaGcagcatcaatgattttgggc	10	9	10	12	2	2	1	1	1	1	0	2	1	2	1	2	1	4	4	2	1	2	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr15:75219171G>T	ENST00000322347.6	-	3	428	c.275C>A	c.(274-276)gCt>gAt	p.A92D	COX5A_ENST00000564811.1_Missense_Mutation_p.A92D|COX5A_ENST00000562233.1_Intron|COX5A_ENST00000568783.1_Missense_Mutation_p.A92D|COX5A_ENST00000568517.1_Missense_Mutation_p.A11D|COX5A_ENST00000567270.1_Missense_Mutation_p.A53D	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	92					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|pancreas(1)	3						TGCCCGCAAAGCAGCATCAAT	0.393																																					p.A92D													.	.			0			c.C275A												95	91	93					15																	75219171		2197	4295	6492	SO:0001583	missense	9377	exon3			CGCAAAGCAGCAT	M22760	CCDS10273.1	15q25	2011-07-04			ENSG00000178741	ENSG00000178741	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2267	protein-coding gene	gene with protein product		603773				10072584, 2853101	Standard	NM_004255		Approved		uc002azi.4	P20674	OTTHUMG00000142825	ENST00000322347.6:c.275C>A	15.37:g.75219171G>T	ENSP00000317780:p.Ala92Asp		86	0	0		100	0.05	5	NM_004255	3045	0	1	P30045|Q8TB65	Missense_Mutation	SNP	ENST00000322347.6	37	CCDS10273.1	.	.	.	.	.	.	.	.	.	.	G	31	5.104312	0.94245	.	.	ENSG00000178741	ENST00000322347	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85570	0.5727	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88252	0.2917	9	0.87932	D	0	-12.7967	18.0514	0.89349	0.0:0.0:1.0:0.0	.	92	P20674	COX5A_HUMAN	D	92	.	ENSP00000317780:A92D	A	-	2	0	COX5A	73006224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.292000	0.96076	2.609000	0.88269	0.655000	0.94253	GCT			0.393	COX5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286417.1		NM_004255		T	75219171	G	T	75219171	3	4	35	1	0	0	0	0	1	0	0	0	3774	971	34	2	185	2	COX5A	15	75219171	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	8223083	75219171	27312221	50	2475											
PDPK1	5170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2647685	2647685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attatctgatggaccccagcGggaacgcacacaagtggtgc	11	7	12	11	2	1	1	0	1	1	0	1	3	1	3	2	3	3	1	2	3	3	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr16:2647685G>A	ENST00000342085.4	+	14	1737	c.1588G>A	c.(1588-1590)Ggg>Agg	p.G530R	PDPK1_ENST00000389224.3_Missense_Mutation_p.G503R|PDPK1_ENST00000354836.5_Missense_Mutation_p.G506R|CTD-3126B10.1_ENST00000562166.1_RNA|PDPK1_ENST00000441549.3_3'UTR|PDPK1_ENST00000268673.7_Missense_Mutation_p.G403R	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	530	PH.				actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GGACCCCAGCGGGAACGCACA	0.612																																					p.G530R													.	.			0			c.G1588A												88	77	81					16																	2647685		2198	4300	6498	SO:0001583	missense	5170	exon14			CCCAGCGGGAACG	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"PkB kinase"	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1588G>A	16.37:g.2647685G>A	ENSP00000344220:p.Gly530Arg		146	0	0		144	0.28	41	NM_002613	62	0.39	24	H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	ENST00000342085.4	37	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	-	17.64	3.440842	0.63067	.	.	ENSG00000140992	ENST00000342085;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.21	5.21	0.72293	Pleckstrin homology-type (1);	0.000000	0.85682	U	0.000000	T	0.46171	0.1379	L	0.52206	1.635	0.80722	D	1	D;D	0.89917	1.0;0.963	D;B	0.77004	0.989;0.429	T	0.28650	-1.0037	10	0.44086	T	0.13	-20.8719	17.3267	0.87251	0.0:0.0:1.0:0.0	.	403;530	O15530-4;O15530	.;PDPK1_HUMAN	R	530;403;506;503	ENSP00000344220:G530R;ENSP00000268673:G403R;ENSP00000346895:G506R;ENSP00000373876:G503R	ENSP00000268673:G403R	G	+	1	0	PDPK1	2587686	1.000000	0.71417	0.653000	0.29593	0.621000	0.37620	7.732000	0.84908	2.394000	0.81467	0.650000	0.86243	GGG			0.612	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250831.3				A	2647685	G	A	2647685	3	1	35	1	0	0	0	0	1	0	0	0	11704	1116	39	1	1642	1	PDPK1	16	2647685	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		2647685	87707068	51	2476											
SRRM2	23524	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr16	2819139	2819139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcttcttcctcctcctcttc	0	17	0	24	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	0	0	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr16:2819139C>T	ENST00000301740.8	+	12	8424	c.7875C>T	c.(7873-7875)tcC>tcT	p.S2625S	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2625	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						cctcctcctcctcttcttcct	0.592																																					p.S2625S													.	.			0			c.C7875T												141	121	128					16																	2819139		2198	4300	6498	SO:0001819	synonymous_variant	23524	exon12			CTCCTCCTCTTCT	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.7875C>T	16.37:g.2819139C>T			70	0	0		94	0.09	8	NM_016333	971	0.01	5	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																					0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436411.1				T	2819139	C	T	2819139	2	4	35	1	0	0	0	0	0	0	0	1	15192	668	24	3		3	SRRM2	16	2819139	Silent	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	171454	2819139	87535614	52	2477											
RABEP2	79874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	28925902	28925902	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaaggggcatgccggggAcgtctctagggaagggggca	9	4	21	7	2	1	0	0	0	1	0	2	3	1	3	1	8	1	2	1	8	3	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr16:28925902A>C	ENST00000358201.4	-	5	1137	c.549T>G	c.(547-549)cgT>cgG	p.R183R	RABEP2_ENST00000357573.6_Silent_p.R183R|RABEP2_ENST00000561803.1_5'Flank|RABEP2_ENST00000544477.1_Silent_p.R112R	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	183					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						CATGCCGGGGACGTCTCTAGG	0.711																																					p.R183R	Pancreas(66;639 1284 10093 31061 49099)												.	.			0			c.T549G												26	33	31					16																	28925902		1908	4101	6009	SO:0001819	synonymous_variant	79874	exon5			CCGGGGACGTCTC	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.549T>G	16.37:g.28925902A>C			63	0	0		41	0.17	7	NM_024816	34	0.18	6		Silent	SNP	ENST00000358201.4	37	CCDS42140.1																																																																																					0.711	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000432691.1		NM_024816		C	28925902	A	C	28925902	2	2	35	1	0	0	0	0	0	0	0	1	12985	262	10	4		4	RABEP2	16	28925902	Silent	SNP	A	TCGA-2G-AAGO-01A-11D-A42Y-10	26106763	28925902	61428851	53	2478											
TGFB1I1	7041	broad.mit.edu	37	chr16	31484850	31484850	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggagcctctcaccccTcccccatcctatggccacca	6	7	6	22	1	1	0	1	0	1	0	4	1	3	1	9	2	2	0	9	2	1	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr16:31484850T>C	ENST00000394863.3	+	2	232	c.102T>C	c.(100-102)ccT>ccC	p.P34P	TGFB1I1_ENST00000394858.2_Silent_p.P17P|TGFB1I1_ENST00000567607.1_Silent_p.P17P|TGFB1I1_ENST00000361773.3_Silent_p.P17P	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	34	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|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, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CTCTCACCCCTCCCCCATCCT	0.642																																					p.P34P													.	TGFB1I1	60		0			c.T102C												35	40	39					16																	31484850		2197	4300	6497	SO:0001819	synonymous_variant	7041	exon2			CACCCCTCCCCCA	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.102T>C	16.37:g.31484850T>C			37	0.1081081081	4		37	0.22	8	NM_001042454	21	0	0	B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	ENST00000394863.3	37	CCDS42156.1																																																																																					0.642	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255630.3				C	31484850	T	C	31484850	2	2	35	1	0	0	0	0	0	0	0	1	15840	1538	54	4		4	TGFB1I1	16	31484850	Silent	SNP	T	TCGA-2G-AAGO-01A-11D-A42Y-10	2558948	31484850	58869903	54	2479											
CIAPIN1	57019	mdanderson.org	37	chr16	57463161	57463161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcccaaggtaggggcagCtggcacagcggaaggcatcg	10	4	16	11	2	0	0	0	0	0	0	2	1	1	1	1	6	2	6	1	6	3	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr16:57463161C>T	ENST00000569979.1	-	6	708	c.662G>A	c.(661-663)aGc>aAc	p.S221N	CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S274N|CIAPIN1_ENST00000565961.1_Silent_p.Q221Q|CIAPIN1_ENST00000569370.1_Silent_p.Q248Q|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S287N|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000568940.1_Silent_p.Q248Q					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTAGGGGCAGCTGGCACAGCG	0.552																																					p.S287N													.	.			0			c.G860A												60	60	60					16																	57463161		2007	4177	6184	SO:0001583	missense	57019	exon9			GGGCAGCTGGCAC	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.662G>A	16.37:g.57463161C>T	ENSP00000458000:p.Ser221Asn		40	0	0		52	0.06	3	NM_020313	536	0	0		Missense_Mutation	SNP	ENST00000569979.1	37		.	.	.	.	.	.	.	.	.	.	C	17.29	3.350909	0.61183	.	.	ENSG00000005194	ENST00000394391	T	0.36157	1.27	4.73	2.74	0.32292	.	0.041556	0.85682	N	0.000000	T	0.33876	0.0878	M	0.62088	1.915	0.36245	D	0.85354	B;B	0.20550	0.046;0.008	B;B	0.19946	0.027;0.019	T	0.31861	-0.9928	10	0.45353	T	0.12	-8.5092	9.8209	0.40883	0.0:0.8415:0.0:0.1585	.	274;287	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	N	287	ENSP00000377914:S287N	ENSP00000377914:S287N	S	-	2	0	CIAPIN1	56020662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.245000	0.65405	0.516000	0.28340	0.561000	0.74099	AGC			0.552	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000432580.1		NM_020313		T	57463161	C	T	57463161	3	4	35	1	0	0	0	0	1	0	0	0	3421	797	28	2	82	2	CIAPIN1	16	57463161	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	25978311	57463161	32891592	55	2480											
OR1A1	8383	hgsc.bcm.edu;bcgsc.ca	37	chr17	3118967	3118967	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcatcctcctgggagttaCtggtcagcaggaacaggaag	11	9	12	9	0	2	0	2	0	0	0	4	3	4	3	2	4	3	2	2	4	3	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr17:3118967C>G	ENST00000304094.1	+	1	53	c.53C>G	c.(52-54)aCt>aGt	p.T18S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTGGGAGTTACTGGTCAGCAG	0.423																																					p.T18S													.	.			0			c.C53G												131	110	117					17																	3118967		2203	4300	6503	SO:0001583	missense	8383	exon1			GAGTTACTGGTCA	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.53C>G	17.37:g.3118967C>G	ENSP00000305207:p.Thr18Ser		94	0	0		79	0.05	4	NM_014565	0		0	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.545863	0.00926	.	.	ENSG00000172146	ENST00000304094	T	0.01068	5.38	4.76	0.117	0.14652	.	0.420272	0.20509	N	0.090922	T	0.00496	0.0016	N	0.01817	-0.705	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47522	-0.9111	10	0.02654	T	1	.	10.1635	0.42866	0.1374:0.3696:0.493:0.0	.	18	Q9P1Q5	OR1A1_HUMAN	S	18	ENSP00000305207:T18S	ENSP00000305207:T18S	T	+	2	0	OR1A1	3065717	0.000000	0.05858	0.033000	0.17914	0.941000	0.58515	0.742000	0.26216	-0.072000	0.12864	-0.694000	0.03704	ACT			0.423	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207292.1		NM_014565		G	3118967	C	G	3118967	3	3	35	1	0	0	0	0	1	0	0	0	10966	565	20	5	55	5	OR1A1	17	3118967	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10		3118967	78076243	56	2481											
ALOX15	246	mdanderson.org	37	chr17	4535309	4535309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggttggcgggggcagccGcatcgtgcagggtgcattag	5	8	20	8	3	0	0	0	0	0	0	1	0	0	0	1	6	3	5	1	6	1	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr17:4535309G>A	ENST00000570836.1	-	14	1780	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	ALOX15_ENST00000545513.1_Missense_Mutation_p.R584W|ALOX15_ENST00000293761.3_Missense_Mutation_p.R562W|ALOX15_ENST00000574640.1_Missense_Mutation_p.R523W			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	562	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GGGGGCAGCCGCATCGTGCAG	0.607																																					p.R562W													.	.			0			c.C1684T												60	55	57					17																	4535309		2203	4300	6503	SO:0001583	missense	246	exon13			GCAGCCGCATCGT	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1684C>T	17.37:g.4535309G>A	ENSP00000458832:p.Arg562Trp		64	0	0		42	0.07	3	NM_001140	1	0	0	A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179751	0.57800	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	D;D	0.83075	-1.68;-1.68	4.33	3.32	0.38043	Lipoxygenase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.90174	0.6929	M	0.93898	3.47	0.37184	D	0.903643	D;P;D	0.65815	0.993;0.939;0.995	P;P;P	0.55999	0.684;0.563;0.789	D	0.92028	0.5631	10	0.72032	D	0.01	-7.3666	9.1329	0.36857	0.0:0.0:0.782:0.218	.	584;523;562	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	W	562;584	ENSP00000293761:R562W;ENSP00000439855:R584W	ENSP00000293761:R562W	R	-	1	2	ALOX15	4482058	0.979000	0.34478	1.000000	0.80357	0.991000	0.79684	0.191000	0.17076	0.992000	0.38840	0.655000	0.94253	CGG			0.607	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207487.2				A	4535309	G	A	4535309	3	1	35	1	0	0	0	0	1	0	0	0	538	1086	38	1	312	1	ALOX15	17	4535309	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	1416342	4535309	76659901	57	2482											
KCTD11	147040	mdanderson.org	37	chr17	7256675	7256675	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtgtctaggtgctttgcgGgcccgatttggtgtggccag	4	12	17	8	2	1	0	0	0	1	0	1	2	1	0	2	4	2	1	2	4	1	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr17:7256675G>T	ENST00000333751.3	+	1	1468	c.414G>T	c.(412-414)cgG>cgT	p.R138R	TMEM95_ENST00000576060.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	138					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GTGCTTTGCGGGCCCGATTTG	0.627																																					p.R138R													KCTD11,NS,carcinoma,0,1	KCTD11	0	1	0			c.G414T												94	82	86					17																	7256675		2203	4300	6503	SO:0001819	synonymous_variant	147040	exon1			TTTGCGGGCCCGA	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"chromosome 17 open reading frame 36", "potassium channel tetramerisation domain containing 11"	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.414G>T	17.37:g.7256675G>T			56	0	0		42	0.07	3	NM_001002914	10	0	0	B3KPE0	Silent	SNP	ENST00000333751.3	37	CCDS32545.1																																																																																					0.627	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255084.2		NM_001002914		T	7256675	G	T	7256675	2	4	35	1	0	0	0	0	0	0	0	1	8113	1219	43	3		3	KCTD11	17	7256675	Silent	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	2721366	7256675	73938535	58	2483											
PIK3R5	23533	mdanderson.org	37	chr17	8808104	8808104	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcttacctggggccttGagttcagcatcaatgaaggt	9	11	12	9	0	2	2	2	2	0	0	2	2	2	2	2	3	3	3	2	3	3	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr17:8808104G>T	ENST00000447110.1	-	5	526	c.402C>A	c.(400-402)ctC>ctA	p.L134L	PIK3R5_ENST00000584803.1_Silent_p.L134L|PIK3R5_ENST00000581552.1_Silent_p.L134L	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	134					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						CTGGGGCCTTGAGTTCAGCAT	0.557																																					p.L134L	NSCLC(18;589 615 7696 20311 50332)												.	.			0			c.C402A												83	78	79					17																	8808104		2203	4300	6503	SO:0001819	synonymous_variant	23533	exon5			GGCCTTGAGTTCA	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.402C>A	17.37:g.8808104G>T			61	0	0		43	0.07	3	NM_001142633	12	0	0	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	CCDS11147.1																																																																																					0.557	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000227003.2		NM_014308		T	8808104	G	T	8808104	2	4	35	1	0	0	0	0	0	0	0	1	11939	1277	45	3		3	PIK3R5	17	8808104	Silent	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	1551429	8808104	72387106	59	2484											
MYO18A	399687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	27401817	27401817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctccgtcagcttggcctCtgtgtcgctgtcactcagat	5	13	10	13	2	5	1	3	0	2	1	7	1	5	1	2	1	1	2	2	1	0	1	rs144652932	byFrequency	TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr17:27401817C>T	ENST00000527372.1	-	42	6316	c.6136G>A	c.(6136-6138)Gag>Aag	p.E2046K	MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Missense_Mutation_p.E2031K|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.E2046K|TIAF1_ENST00000359450.6_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1994K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	2046					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)			AGCTTGGCCTCTGTGTCGCTG	0.612																																					p.E2046K	Esophageal Squamous(182;472 2015 7001 15270 22562)												.	.			0			c.G6136A												138	141	140					17																	27401817		2139	4254	6393	SO:0001583	missense	399687	exon42			TGGCCTCTGTGTC	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.6136G>A	17.37:g.27401817C>T	ENSP00000437073:p.Glu2046Lys		144	0	0		166	0.19	32	NM_078471	115	0.17	19	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893850	0.72639	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	D;D;D;D	0.91068	-2.57;-2.78;-2.58;-2.57	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.91257	0.7244	N	0.24115	0.695	0.80722	D	1	P;D;D;P	0.56035	0.496;0.974;0.974;0.454	B;D;D;B	0.67725	0.196;0.953;0.953;0.078	D	0.91509	0.5225	10	0.46703	T	0.11	.	15.9564	0.79891	0.0:1.0:0.0:0.0	.	1634;1994;2031;2046	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	K	2046;1994;1994;2031;2046;927;927;1634;312	ENSP00000346291:E2046K;ENSP00000435932:E1994K;ENSP00000434228:E2031K;ENSP00000437073:E2046K	ENSP00000346291:E2046K	E	-	1	0	MYO18A	24425943	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.270000	0.51600	2.554000	0.86153	0.655000	0.94253	GAG			0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389396.1		NM_078471		T	27401817	C	T	27401817	3	4	35	1	0	0	0	0	1	0	0	0	10081	922	32	3	32	3	MYO18A	17	27401817	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	18593713	27401817	53793393	60	2485											
GIT1	28964	mdanderson.org	37	chr17	27903296	27903296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccaggggggcccccaaagGgcttcagggcagagccaggt	8	3	16	14	0	1	1	1	0	0	1	1	1	1	1	5	6	1	2	5	6	1	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr17:27903296G>T	ENST00000225394.3	-	14	1801	c.1553C>A	c.(1552-1554)cCc>cAc	p.P518H	GIT1_ENST00000581348.1_Missense_Mutation_p.P527H|GIT1_ENST00000579937.1_Missense_Mutation_p.P518H|GIT1_ENST00000394869.3_Missense_Mutation_p.P527H|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	518					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)		GCCCCCAAAGGGCTTCAGGGC	0.637																																					p.P527H	Colon(81;41 1719 20078 35068)												.	.			0			c.C1580A												63	72	69					17																	27903296		2203	4300	6503	SO:0001583	missense	28964	exon15			CCAAAGGGCTTCA	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.1553C>A	17.37:g.27903296G>T	ENSP00000225394:p.Pro518His		42	0	0		47	0.06	3	NM_001085454	144	0	0	B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016843	0.75161	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.74526	-0.79;-0.85	4.67	4.67	0.58626	.	0.179902	0.48767	D	0.000165	D	0.82939	0.5146	L	0.55990	1.75	0.49213	D	0.999768	D;D;D;D	0.69078	0.994;0.997;0.994;0.994	P;D;P;P	0.65987	0.873;0.94;0.873;0.873	D	0.84739	0.0750	10	0.72032	D	0.01	.	18.1368	0.89622	0.0:0.0:1.0:0.0	.	531;527;527;518	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	518;527	ENSP00000225394:P518H;ENSP00000378338:P527H	ENSP00000225394:P518H	P	-	2	0	GIT1	24927422	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.971000	0.63749	2.588000	0.87417	0.448000	0.29417	CCC			0.637	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256073.1		NM_014030		T	27903296	G	T	27903296	3	4	35	1	0	0	0	0	1	0	0	0	6410	1232	43	3	760	3	GIT1	17	27903296	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	501479	27903296	53291914	61	2486											
CCL18	6362	broad.mit.edu	37	chr17	34398343	34398343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaggccggcagatctgtgCtgaccccaataagaagtggg	11	6	15	9	1	1	4	0	1	1	3	1	5	1	4	3	3	1	2	3	3	3	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr17:34398343C>T	ENST00000004921.3	+	3	275	c.212C>T	c.(211-213)gCt>gTt	p.A71V	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000588864.1_RNA	NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	71					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to biotic stimulus (GO:0009607)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGATCTGTGCTGACCCCAAT	0.572																																					p.A71V													.	CCL18	9		0			c.C212T												81	80	81					17																	34398343		2203	4300	6503	SO:0001583	missense	6362	exon3			TCTGTGCTGACCC	Y13710	CCDS11306.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000006074	ENSG00000275385		"Chemokine ligands"	10616	protein-coding gene	gene with protein product		603757	"small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated"	SCYA18		9233607, 10049593	Standard	NM_002988		Approved	DC-CK1, PARC, AMAC-1, DCCK1, MIP-4, CKb7	uc002hku.3	P55774	OTTHUMG00000188410	ENST00000004921.3:c.212C>T	17.37:g.34398343C>T	ENSP00000004921:p.Ala71Val		285	0	0		375	0.02	6	NM_002988	8	0	0	B5BUM2|Q53X71	Missense_Mutation	SNP	ENST00000004921.3	37	CCDS11306.1	.	.	.	.	.	.	.	.	.	.	.	15.99	2.995109	0.54041	.	.	ENSG00000006074	ENST00000004921	T	0.05580	3.42	4.44	4.44	0.53790	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.228496	0.35291	N	0.003317	T	0.22126	0.0533	.	.	.	0.37919	D	0.931617	D	0.76494	0.999	D	0.77557	0.99	T	0.01305	-1.1390	9	0.56958	D	0.05	.	12.7487	0.57296	0.0:1.0:0.0:0.0	.	71	P55774	CCL18_HUMAN	V	71	ENSP00000004921:A71V	ENSP00000004921:A71V	A	+	2	0	CCL18	31422456	0.931000	0.31567	0.636000	0.29352	0.067000	0.16453	1.755000	0.38379	2.440000	0.82611	0.591000	0.81541	GCT			0.572	CCL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256583.1		NM_002988		T	34398343	C	T	34398343	3	4	35	1	0	0	0	0	1	0	0	0	2891	797	28	2	222	2	CCL18	17	34398343	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	6495047	34398343	46796867	62	2487											
KRTAP4-7	100132476	hgsc.bcm.edu	37	chr17	39240805	39240805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgccccagctgctgccGcccctgctgctgcctgcgtc	1	8	11	21	3	0	0	0	0	0	0	1	0	0	0	7	0	8	4	7	0	0	0			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr17:39240805G>T	ENST00000391417.4	+	1	347	c.347G>T	c.(346-348)cGc>cTc	p.R116L		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	141	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						agctgctgccgcccctgctgc	0.672																																					p.R116L													KRTAP4-7,caecum,carcinoma,+1,1	KRTAP4-7	1	1	0			c.G347T												18	18	18					17																	39240805		692	1587	2279	SO:0001583	missense	100132476	exon1			GCTGCCGCCCCTG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.347G>T	17.37:g.39240805G>T	ENSP00000375236:p.Arg116Leu		37	0	0		50	0.14	7	NM_033061	0		0	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	6.805	0.517638	0.13005	.	.	ENSG00000240871	ENST00000391417	T	0.00606	6.26	3.15	2.13	0.27403	.	0.163808	0.19966	U	0.102091	T	0.00496	0.0016	.	.	.	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.45804	-0.9236	9	0.28530	T	0.3	.	9.2621	0.37619	0.0:0.0:0.7821:0.2179	.	171	Q9BYR0	KRA47_HUMAN	L	116	ENSP00000375236:R116L	ENSP00000375236:R116L	R	+	2	0	KRTAP4-7	36494331	0.000000	0.05858	0.028000	0.17463	0.502000	0.33828	-0.081000	0.11321	0.603000	0.29913	0.289000	0.19496	CGC			0.672	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257686.1				T	39240805	G	T	39240805	3	4	35	1	0	0	0	0	1	0	0	0	8570	1087	38	1	349	1	KRTAP4-7	17	39240805	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	4842462	39240805	41954405	63	2488											
CAPS	8498	mdanderson.org	37	chr19	5914617	5914617	+	IGR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgggagcagatccctggacGctgatgagttccggcagggt	8	7	16	10	3	0	3	0	2	0	1	2	5	2	5	2	4	1	4	2	4	0	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr19:5914617G>T	ENST00000340578.6	-	0	3233				AC104532.2_ENST00000588891.1_3'UTR|CAPS_ENST00000222125.5_Missense_Mutation_p.A43S|AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000452990.2_Missense_Mutation_p.A43S|CAPS_ENST00000588776.1_Missense_Mutation_p.A129S	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						ATCCCTGGACGCTGATGAGTT	0.652																																					p.A43S													.	.			0			c.G127T												70	71	71					19																	5914617		2203	4300	6503	SO:0001628	intergenic_variant	828	exon3			CTGGACGCTGATG	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.5914617G>T			61	0	0		49	0.06	3	NM_080590	14	0	0	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	2.216	-0.379608	0.05000	.	.	ENSG00000105519	ENST00000394521;ENST00000222125;ENST00000452990	T;T	0.71222	-0.55;-0.55	5.3	3.09	0.35607	EF-hand-like domain (1);	0.597668	0.16492	N	0.212061	T	0.54886	0.1886	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.001	T	0.38607	-0.9653	10	0.25106	T	0.35	-11.0734	8.3054	0.32038	0.0:0.1534:0.5297:0.3168	.	176;43	Q8NF12;Q13938	.;CAYP1_HUMAN	S	176;43;43	ENSP00000222125:A43S;ENSP00000403263:A43S	ENSP00000222125:A43S	A	+	1	0	CAPS	5865617	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.256000	0.18351	0.583000	0.29574	0.555000	0.69702	GCT			0.652	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000452304.1		NM_007322		T	5914617	G	T	5914617	1	4	35	0	1	0	0	0	0	0	0	0	2639	1087	38	1		1	CAPS	19	5914617	IGR	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		5914617	53214366	64	2489											
ICAM3	3385	ucsc.edu	37	chr19	10444835	10444835	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcagccccgtgttagctcaCcctcaatgtccatcaccacg	8	8	7	18	3	3	0	3	0	0	0	4	0	4	0	5	0	2	3	5	0	2	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr19:10444835C>A	ENST00000160262.5	-	6	1650		c.e6+1		RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Splice_Site	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3						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)			TGTTAGCTCACCCTCAATGTC	0.567																																					.													.	ICAM3	29		0			c.1441+1G>T												69	64	66					19																	10444835		2203	4300	6503	SO:0001630	splice_region_variant	3385	exon7			AGCTCACCCTCAA		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.1441+1G>T	19.37:g.10444835C>A			40	0	0		37	0.11	4	NM_002162	9	0	0	Q6PD68	Splice_Site	SNP	ENST00000160262.5	37	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193240	0.38707	.	.	ENSG00000076662	ENST00000160262	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.833	0.57756	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ICAM3	10305835	0.739000	0.28196	0.134000	0.22075	0.011000	0.07611	1.903000	0.39858	2.481000	0.83766	0.561000	0.74099	.			0.567	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451234.1			Intron	A	10444835	C	A	10444835	5	1	35	1	0	0	0	0	0	0	1	0	7496	521	18	3	209	3	ICAM3	19	10444835	Splice_Site	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	4530218	10444835	48684148	65	2490											
TYK2	7297	mdanderson.org	37	chr19	10468498	10468498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagcagatctccaggaggGtggcgccaaacccccacttg	11	5	11	14	1	1	1	0	0	1	1	2	2	1	2	4	3	2	1	4	3	2	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr19:10468498G>T	ENST00000525621.1	-	17	2889	c.2408C>A	c.(2407-2409)aCc>aAc	p.T803N	TYK2_ENST00000524462.1_Missense_Mutation_p.T618N|TYK2_ENST00000529370.1_Missense_Mutation_p.T803N|TYK2_ENST00000264818.6_Missense_Mutation_p.T803N	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	803	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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 tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CTCCAGGAGGGTGGCGCCAAA	0.672																																					p.T803N													.	.			0			c.C2408A												34	33	34					19																	10468498		2203	4300	6503	SO:0001583	missense	7297	exon17			AGGAGGGTGGCGC		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2408C>A	19.37:g.10468498G>T	ENSP00000431885:p.Thr803Asn		75	0	0		52	0.06	3	NM_003331	22	0	0	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742134	0.69418	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.86	2.65	0.31530	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.111786	0.37053	N	0.002279	D	0.84097	0.5397	H	0.96239	3.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.87620	0.2509	10	0.87932	D	0	-24.8182	12.8436	0.57817	0.0:0.3149:0.6851:0.0	.	803;803	E9PPF2;P29597	.;TYK2_HUMAN	N	618;803;803;550;803	ENSP00000433203:T618N;ENSP00000431885:T803N;ENSP00000264818:T803N;ENSP00000432728:T803N	ENSP00000264818:T803N	T	-	2	0	TYK2	10329498	1.000000	0.71417	0.977000	0.42913	0.753000	0.42808	7.306000	0.78905	0.608000	0.30000	-0.175000	0.13238	ACC			0.672	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389443.1				T	10468498	G	T	10468498	3	4	35	1	0	0	0	0	1	0	0	0	16834	1261	44	3	1191	3	TYK2	19	10468498	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	23663	10468498	48660485	66	2491											
ZBTB32	27033	mdanderson.org	37	chr19	36206029	36206029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaggagatgttgcacaaGcactcgccaccaagaggcag	14	4	12	11	1	0	2	0	0	0	2	1	4	0	2	2	2	3	4	2	2	3	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr19:36206029G>T	ENST00000392197.2	+	3	819	c.501G>T	c.(499-501)aaG>aaT	p.K167N	KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.K167N|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	167					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)			TGTTGCACAAGCACTCGCCAC	0.562																																					p.K167N													.	.			0			c.G501T												46	46	46					19																	36206029		2203	4300	6503	SO:0001583	missense	27033	exon2			GCACAAGCACTCG	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.501G>T	19.37:g.36206029G>T	ENSP00000376035:p.Lys167Asn		46	0	0		38	0.08	3	NM_014383	5	0	0	Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	8.824	0.938245	0.18206	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.09538	2.97;2.97	5.2	3.01	0.34805	.	0.796770	0.10958	N	0.615232	T	0.06234	0.0161	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.22152	0.038	T	0.38478	-0.9659	10	0.22109	T	0.4	-3.5582	6.8041	0.23768	0.0921:0.0:0.7351:0.1728	.	167	Q9Y2Y4	ZBT32_HUMAN	N	167	ENSP00000262630:K167N;ENSP00000376035:K167N	ENSP00000262630:K167N	K	+	3	2	ZBTB32	40897869	0.003000	0.15002	0.107000	0.21349	0.136000	0.21042	0.869000	0.27996	1.167000	0.42706	0.655000	0.94253	AAG			0.562	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109491.3		NM_014383		T	36206029	G	T	36206029	3	4	35	1	0	0	0	0	1	0	0	0	17558	962	34	2	503	2	ZBTB32	19	36206029	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	25737531	36206029	22922954	67	2492											
CAPNS1	826	mdanderson.org	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000587718.1_Silent_p.G47G|CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000588780.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	.			0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	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.141C>T	19.37:g.36632054C>T			95	0.0210526316	2		113	0.05	6	NM_001749	2	0	0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																			0.006		0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				T	36632054	C	T	36632054	2	4	35	1	0	0	0	0	0	0	0	1	2635	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	426025	36632054	22496929	68	2493											
MYLK2	85366	broad.mit.edu	37	chr20	30418685	30418685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatcattgactttggcctgGcacggaggtaccacctgggt	8	10	13	10	1	1	2	1	1	0	1	1	3	1	3	3	5	1	2	3	5	1	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr20:30418685G>A	ENST00000375994.2	+	8	1561	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.A430T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTGGCCTGGCACGGAGGTA	0.622																																					p.A430T													.	MYLK2	76		0			c.G1288A												116	113	114					20																	30418685		2203	4300	6503	SO:0001583	missense	85366	exon9			GGCCTGGCACGGA	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1288G>A	20.37:g.30418685G>A	ENSP00000365162:p.Ala430Thr		159	0	0		164	0.03	5	NM_033118	1	0	0	Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611591	0.87258	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.75821	-0.97;-0.97	3.76	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.86564	0.5963	M	0.88640	2.97	0.58432	D	0.999998	D	0.64830	0.994	D	0.63113	0.911	D	0.89895	0.4040	9	0.87932	D	0	.	15.0927	0.72207	0.0:0.0:1.0:0.0	.	430	Q9H1R3	MYLK2_HUMAN	T	430	ENSP00000365162:A430T;ENSP00000365152:A430T	ENSP00000365152:A430T	A	+	1	0	MYLK2	29882346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.490000	0.97952	2.063000	0.61619	0.561000	0.74099	GCA			0.622	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078583.2		NM_033118		A	30418685	G	A	30418685	3	1	35	1	0	0	0	0	1	0	0	0	10073	1203	42	2	1318	2	MYLK2	20	30418685	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		30418685	32606835	69	2494											
PCIF1	63935	mdanderson.org	37	chr20	44567735	44567735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagccctgttctccaaagCcaatccgcctggttcaggac	8	8	9	16	1	2	0	1	0	1	0	4	1	3	1	6	2	2	2	6	2	2	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr20:44567735C>T	ENST00000372409.3	+	3	461	c.97C>T	c.(97-99)Cca>Tca	p.P33S		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	33					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TTCTCCAAAGCCAATCCGCCT	0.637																																					p.P33S													.	.			0			c.C97T												68	67	67					20																	44567735		2203	4300	6503	SO:0001583	missense	63935	exon3			CCAAAGCCAATCC	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.97C>T	20.37:g.44567735C>T	ENSP00000361486:p.Pro33Ser		52	0	0		54	0.06	3	NM_022104	58	0	0	E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265458	0.59431	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.69	5.69	0.88448	.	0.195351	0.45867	D	0.000336	T	0.49474	0.1559	N	0.14661	0.345	0.46849	D	0.999223	B	0.12013	0.005	B	0.13407	0.009	T	0.41858	-0.9485	9	0.51188	T	0.08	-14.0075	18.7927	0.91980	0.0:1.0:0.0:0.0	.	33	Q9H4Z3	PCIF1_HUMAN	S	33	.	ENSP00000361486:P33S	P	+	1	0	PCIF1	44001142	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.969000	0.63735	2.676000	0.91093	0.655000	0.94253	CCA			0.637	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079550.1		NM_022104		T	44567735	C	T	44567735	3	4	35	1	0	0	0	0	1	0	0	0	11597	739	26	2	99	2	PCIF1	20	44567735	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	14149050	44567735	18457785	70	2495											
FAM3B	54097	mdanderson.org	37	chr21	42694879	42694879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtgttcgtggtcttcGcctccttgtgtgcctggtat	2	16	14	9	2	1	0	0	0	1	0	4	0	2	0	3	4	1	2	3	4	1	4	rs371282791		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr21:42694879G>A	ENST00000357985.2	+	2	195	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.A40T|FAM3B_ENST00000398652.3_Missense_Mutation_p.A56T|FAM3B_ENST00000398647.3_Intron	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	17					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CGTGGTCTTCGCCTCCTTGTG	0.622																																					p.A17T													.	.			0			c.G49A							G	THR/ALA,	0,4406		0,0,2203	218	160	180		49,	4	0.2	21		180	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	FAM3B	NM_058186.3,NM_206964.1	58,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	17/236,	42694879	1,13005	2203	4300	6503	SO:0001583	missense	54097	exon2			GTCTTCGCCTCCT	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"pancreatic-derived factor"	608617	"chromosome 21 open reading frame 11"	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.49G>A	21.37:g.42694879G>A	ENSP00000350673:p.Ala17Thr		23	0	0		26	0.12	3	NM_058186	1	0	0		Missense_Mutation	SNP	ENST00000357985.2	37	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669775	0.29693	0.0	1.16E-4	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398646	T;T;T	0.56275	0.61;0.47;0.55	4.9	3.99	0.46301	.	0.268590	0.31301	N	0.007888	T	0.59280	0.2182	L	0.48362	1.52	0.36231	D	0.852661	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.69142	0.962;0.818;0.818	T	0.60855	-0.7180	10	0.16420	T	0.52	.	10.1775	0.42948	0.0:0.0:0.7923:0.2077	.	31;40;17	B7Z7I9;A8MTF8;P58499	.;.;FAM3B_HUMAN	T	17;56;40	ENSP00000350673:A17T;ENSP00000381646:A56T;ENSP00000381641:A40T	ENSP00000350673:A17T	A	+	1	0	FAM3B	41616749	0.468000	0.25839	0.213000	0.23690	0.009000	0.06853	1.256000	0.32921	0.990000	0.38787	0.655000	0.94253	GCC			0.622	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195142.1		NM_058186		A	42694879	G	A	42694879	3	1	35	1	0	0	0	0	1	0	0	0	5570	1087	38	1	55	1	FAM3B	21	42694879	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		42694879	5435016	71	2496											
SLC37A1	54020	broad.mit.edu	37	chr21	43974235	43974235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagcaaatcttgaagagcGaaaagaacaagcctctggta	18	6	10	7	1	2	4	0	1	2	3	2	5	2	4	1	1	4	2	1	1	8	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr21:43974235G>A	ENST00000352133.2	+	10	1814	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	SLC37A1_ENST00000398341.3_Missense_Mutation_p.E278K			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	278					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CTTGAAGAGCGAAAAGAACAA	0.438																																					p.E278K													.	SLC37A1	48		0			c.G832A												55	52	53					21																	43974235		2203	4300	6503	SO:0001583	missense	54020	exon11			AAGAGCGAAAAGA	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.832G>A	21.37:g.43974235G>A	ENSP00000344648:p.Glu278Lys		24	0.0833333333	2		43	0.09	4	NM_018964	17	0	0	D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117326	0.56505	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.22539	1.95;1.95	4.67	4.67	0.58626	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.714590	0.13538	N	0.380479	T	0.11665	0.0284	N	0.04805	-0.155	0.09310	N	0.999998	B	0.22146	0.065	B	0.16722	0.016	T	0.18023	-1.0350	10	0.33940	T	0.23	-14.5235	13.0883	0.59153	0.0:0.0:1.0:0.0	.	278	P57057	GLPT_HUMAN	K	278	ENSP00000381383:E278K;ENSP00000344648:E278K	ENSP00000344648:E278K	E	+	1	0	SLC37A1	42847304	0.651000	0.27340	0.031000	0.17742	0.569000	0.35902	2.354000	0.44098	2.142000	0.66516	0.563000	0.77884	GAA			0.438	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195377.1				A	43974235	G	A	43974235	3	1	35	1	0	0	0	0	1	0	0	0	14620	1059	37	1	866	1	SLC37A1	21	43974235	Missense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	1279356	43974235	4155660	72	2497											
MCM3AP	8888	hgsc.bcm.edu;mdanderson.org	37	chr21	47664965	47664965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctgagaagcaagaccGcccagacgcctctctcttct	8	8	9	16	2	3	3	0	1	3	3	5	4	4	3	4	1	1	2	4	1	2	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr21:47664965G>A	ENST00000397708.1	-	24	5048	c.4794C>T	c.(4792-4794)ggC>ggT	p.G1598G	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.G1598G|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1598					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.G1598G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAGCAAGACCGCCCAGACGCC	0.537																																					p.G1598G													MCM3AP,caecum,carcinoma,-1,2	MCM3AP	-1	2	1	Substitution - coding silent(1)	endometrium(1)	c.C4794T												92	88	89					21																	47664965		2203	4300	6503	SO:0001819	synonymous_variant	8888	exon23			AAGACCGCCCAGA	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4794C>T	21.37:g.47664965G>A			119	0	0		121	0.04	5	NM_003906	130	0	0	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	CCDS13734.1																																																																																					0.537	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207254.1		NM_003906		A	47664965	G	A	47664965	2	1	35	1	0	0	0	0	0	0	0	1	9404	1074	38	1		1	MCM3AP	21	47664965	Silent	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10	3690730	47664965	464930	73	2498											
PEX26	55670	hgsc.bcm.edu	37	chr22	18568023	18568023	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtgagatttgatccAggtaagaggtggagactctc	9	11	15	6	0	1	4	0	2	1	3	3	6	2	4	1	5	0	1	1	5	1	2			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr22:18568023A>G	ENST00000329627.7	+	5	1019	c.813A>G	c.(811-813)ccA>ccG	p.P271P	PEX26_ENST00000399744.3_Splice_Site_p.P271P|PEX26_ENST00000428061.2_Intron	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	271					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GATTTGATCCAGGTAAGAGGT	0.567																																					p.P271P													.	.			0			c.A813G												81	77	78					22																	18568023		2203	4300	6503	SO:0001630	splice_region_variant	55670	exon4			TGATCCAGGTAAG	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"peroxisome biogenesis factor 26"			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.814+1A>G	22.37:g.18568023A>G			70	0	0		96	0.04	4	NM_001127649	132	0	0	F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Silent	SNP	ENST00000329627.7	37	CCDS13750.1																																																																																					0.567	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314644.3		NM_017929	Silent	G	18568023	A	G	18568023	5	3	35	1	0	0	0	0	0	0	1	0	11763	202	7	4	827	4	PEX26	22	18568023	Splice_Site	SNP	A	TCGA-2G-AAGO-01A-11D-A42Y-10		18568023	32736543	74	2499											
C22orf43	51233	broad.mit.edu	37	chr22	23974156	23974156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcataacagggtgcgtcctTccccctgggccagccacagt	7	9	10	15	1	1	0	1	0	0	0	3	0	3	0	5	2	3	0	5	2	1	3			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr22:23974156T>C	ENST00000317749.5	-	1	352	c.55A>G	c.(55-57)Aag>Gag	p.K19E	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		19										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GGTGCGTCCTTCCCCCTGGGC	0.532																																					p.K19E													.	C22orf43	18		0			c.A55G												93	95	95					22																	23974156		1965	4139	6104	SO:0001583	missense	51233	exon1			CGTCCTTCCCCCT																												ENST00000317749.5:c.55A>G	22.37:g.23974156T>C	ENSP00000316137:p.Lys19Glu		150	0.02	3		247	0.03	7	NM_016449	1	0	0	Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	t	6.700	0.497794	0.12762	.	.	ENSG00000189269	ENST00000317749	T	0.32515	1.45	0.14	-0.28	0.12886	.	.	.	.	.	T	0.30324	0.0761	L	0.34521	1.04	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.20306	-1.0279	8	0.51188	T	0.08	.	.	.	.	.	19	Q6PGQ1	CV043_HUMAN	E	19	ENSP00000316137:K19E	ENSP00000316137:K19E	K	-	1	0	C22orf43	22304156	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.944000	0.03913	-1.393000	0.02079	-1.425000	0.01104	AAG			0.532	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319708.2				C	23974156	T	C	23974156	3	2	35	1	0	0	0	0	1	0	0	0	2152	1792	62	4	682	4	C22orf43	22	23974156	Missense_Mutation	SNP	T	TCGA-2G-AAGO-01A-11D-A42Y-10	5406133	23974156	27330410	75	2500											
UQCR10	29796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	30163557	30163557	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggcctgtgccatccCtgaccttggacccgcctgag	5	8	14	14	1	0	3	0	3	0	0	1	4	1	4	6	3	1	0	6	3	0	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr22:30163557C>T	ENST00000330029.6	+	1	180				ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank|UQCR10_ENST00000401406.3_Missense_Mutation_p.P57L	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|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)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TGTGCCATCCCTGACCTTGGA	0.592																																					p.P57L													.	.			0			c.C170T												30	32	31					22																	30163557		1967	4141	6108	SO:0001627	intron_variant	29796	exon1			CCATCCCTGACCT	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"Mitochondrial respiratory chain complex / Complex III"	30863	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa", "complex III subunit 9"	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.150+20C>T	22.37:g.30163557C>T			92	0	0		58	0.28	16	NM_001003684	121	0.3	36	B5MCM5|Q9T2V6	Missense_Mutation	SNP	ENST00000330029.6	37	CCDS46680.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743646	0.49151	.	.	ENSG00000184076	ENST00000401406;ENST00000406782	T	0.41758	0.99	5.73	2.42	0.29668	.	.	.	.	.	T	0.28830	0.0715	.	.	.	0.28695	N	0.904405	B	0.02656	0.0	B	0.06405	0.002	T	0.21075	-1.0256	8	0.46703	T	0.11	.	5.114	0.14825	0.1475:0.6309:0.1425:0.0791	.	57	Q9UDW1-2	.	L	57	ENSP00000384962:P57L	ENSP00000384962:P57L	P	+	2	0	UQCR10	28493557	0.992000	0.36948	0.605000	0.28930	0.846000	0.48090	2.615000	0.46368	0.305000	0.22832	-0.343000	0.07986	CCT			0.592	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322081.1		NM_013387		T	30163557	C	T	30163557	1	4	35	0	1	0	0	0	0	0	0	0	17040	681	24	3		3	UQCR10	22	30163557	Intron	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	6189401	30163557	21141009	76	2501											
GGA1	26088	mdanderson.org	37	chr22	38019586	38019586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcgctgtgagcggatgCggcccacgctcttccgactg	6	7	13	15	5	1	1	0	1	1	0	2	3	2	2	3	2	3	2	3	2	0	1			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr22:38019586C>T	ENST00000343632.4	+	9	1164	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	GGA1_ENST00000406772.1_Missense_Mutation_p.R187W|GGA1_ENST00000381756.5_Missense_Mutation_p.R277W|GGA1_ENST00000325180.8_Missense_Mutation_p.R260W|GGA1_ENST00000337437.4_Missense_Mutation_p.R227W	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	260	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				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)					TGAGCGGATGCGGCCCACGCT	0.667											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R260W													.	.			0			c.C778T												56	50	52					22																	38019586		2202	4298	6500	SO:0001583	missense	26088	exon9			CGGATGCGGCCCA	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.778C>T	22.37:g.38019586C>T	ENSP00000341344:p.Arg260Trp		91	0	0	875	86	0.05	4	NM_001001560	68	0	0	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559474	0.86335	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.92	3.85	0.44370	GAT (2);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.76071	0.963;0.987;0.956	T	0.77081	-0.2720	10	0.87932	D	0	-28.6761	12.2874	0.54798	0.3842:0.6158:0.0:0.0	.	277;260;260	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	W	260;277;260;227;187	ENSP00000341344:R260W;ENSP00000371175:R277W;ENSP00000321288:R260W;ENSP00000338647:R227W;ENSP00000385287:R187W	ENSP00000321288:R260W	R	+	1	2	GGA1	36349532	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.814000	0.38972	2.285000	0.76669	0.462000	0.41574	CGG			0.667	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075873.3		NM_013365		T	38019586	C	T	38019586	3	4	35	1	0	0	0	0	1	0	0	0	6366	759	27	1	878	1	GGA1	22	38019586	Missense_Mutation	SNP	C	TCGA-2G-AAGO-01A-11D-A42Y-10	7856029	38019586	13284980	77	2502											
HDAC10	83933	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	50688078	50688081	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															gctcacctggggtcatcctcAaagagatactggatcccctg																										TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	AAAG	AAAG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chr22:50688078_50688081delAAAG	ENST00000216271.5	-	6	898_901	c.546_549delCTTT	c.(544-549)ctctttfs	p.LF182fs	HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Frame_Shift_Del_p.LF182fs|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Frame_Shift_Del_p.LF182fs	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	182	Histone deacetylase.				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)		GGTCATCCTCAAAGAGATACTGGA	0.613																																					p.183_184del													.	HDAC10	29		0			c.547_550del																																									SO:0001589	frameshift_variant	83933	exon6			ATCCTCAAAGAGA	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.546_549delCTTT	22.37:g.50688078_50688081delAAAG	ENSP00000216271:p.Leu182fs		69	0	0		69	0.22	15	NM_032019	27	0	0	Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Frame_Shift_Del	DEL	ENST00000216271.5	37	CCDS14088.1																																																																																					0.613	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000104141.4		NM_032019		-	50688081	AAAG	-	50688078	7	5	35	1	0	1	0	1	0	0	0	0	7020	127	5	0	1520	0	HDAC10	22	50688078	Frame_Shift_Del	DEL	AAAG	TCGA-2G-AAGO-01A-11D-A42Y-10	12668492	50688078	616488	78	2503											
MAGEB10	139422	mdanderson.org	37	chrX	27840132	27840132	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttatatgacggaattGagcacttcatgtttggggag	9	13	15	4	1	1	2	1	2	0	0	1	4	1	4	0	5	1	3	0	5	3	5			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chrX:27840132G>T	ENST00000356790.2	+	3	954	c.709G>T	c.(709-711)Gag>Tag	p.E237*		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	237	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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						TGACGGAATTGAGCACTTCAT	0.468																																					p.E237X													.	.			0			c.G709T												54	49	51					X																	27840132		2202	4300	6502	SO:0001587	stop_gained	139422	exon3			GGAATTGAGCACT		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.709G>T	X.37:g.27840132G>T	ENSP00000368304:p.Glu237*		53	0	0		43	0.07	3	NM_182506	0		0	Q494Y6|Q494Y7|Q9BZ78	Nonsense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482119	0.44147	.	.	ENSG00000177689	ENST00000356790	.	.	.	2.33	-4.67	0.03319	.	0.667399	0.12927	U	0.427665	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4999	0.22164	0.199:0.1658:0.6353:0.0	.	.	.	.	X	237	.	ENSP00000368304:E237X	E	+	1	0	MAGEB10	27750053	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.314000	0.02715	-2.039000	0.00917	-0.444000	0.05651	GAG			0.468	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106216.1		NM_182506		T	27840132	G	T	27840132	4	4	35	1	0	0	0	0	0	1	0	0	9189	1291	45	3	711	3	MAGEB10	23	27840132	Nonsense_Mutation	SNP	G	TCGA-2G-AAGO-01A-11D-A42Y-10		27840132	127430428	79	2504											
ATRX	546	broad.mit.edu	37	chrX	76855029	76855029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctactatcttttttccccTttttcccttttttcttcttt	3	25	1	12	0	3	0	0	0	3	0	5	0	5	0	3	0	2	1	3	0	2	12			TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chrX:76855029T>C	ENST00000373344.5	-	25	6021	c.5807A>G	c.(5806-5808)aAg>aGg	p.K1936R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				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.K1936T(2)|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						TTTTTTCCCCTTTTTCCCTTT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.K1936R				Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX	833		3	Substitution - Missense(2)|Unknown(1)	lung(2)|bone(1)	c.A5807G												329	308	315					X																	76855029		2203	4295	6498	SO:0001583	missense	546	exon25			TTCCCCTTTTTCC	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.5807A>G	X.37:g.76855029T>C	ENSP00000362441:p.Lys1936Arg		232	0	0		294	0.02	6	NM_000489	42	0	0	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.468878	0.26335	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92647	-3.07;-3.08	5.64	0.648	0.17801	.	0.202398	0.40469	N	0.001084	T	0.82217	0.4989	N	0.16903	0.455	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.67492	-0.5657	10	0.38643	T	0.18	-2.2976	8.217	0.31519	0.0:0.3103:0.0:0.6897	.	1898;1936	P46100-4;P46100	.;ATRX_HUMAN	R	1936;1898	ENSP00000362441:K1936R;ENSP00000378967:K1898R	ENSP00000362441:K1936R	K	-	2	0	ATRX	76741685	0.758000	0.28405	0.831000	0.32960	0.973000	0.67179	1.172000	0.31908	-0.241000	0.09681	-0.330000	0.08379	AAG			0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058860.2		NM_000489		C	76855029	T	C	76855029	3	2	35	1	0	0	0	0	1	0	0	0	1208	1609	56	4	1715	4	ATRX	23	76855029	Missense_Mutation	SNP	T	TCGA-2G-AAGO-01A-11D-A42Y-10	49014897	76855029	78415531	80	2505											
CTAG2	30848	broad.mit.edu	37	chrX	153881676	153881676	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctctgccgcccgtggcAcccgcctctcctgggccgcc	2	6	12	21	4	2	0	0	0	2	0	3	1	2	1	8	3	1	1	8	3	0	0	rs370709312		TCGA-2G-AAGO-01A-11D-A42Y-10	TCGA-2G-AAGO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95579513-5f16-4bdc-bf4c-4d4d76a3d069	ce86540c-8488-46d3-9a6f-591f2f3b5be7	g.chrX:153881676A>C	ENST00000247306.4	-	1	177	c.114T>G	c.(112-114)ggT>ggG	p.G38G	CTAG2_ENST00000369585.3_Silent_p.G38G	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	38	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					CGCCCGTGGCACCCGCCTCTC	0.761																																					p.G38G													.	CTAG2	88		0			c.T114G												2	3	3					X																	153881676		1206	2709	3915	SO:0001819	synonymous_variant	30848	exon1			CGTGGCACCCGCC	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.114T>G	X.37:g.153881676A>C			38	0.2894736842	11		45	0.53	24	NM_020994	1	0	0	O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	CCDS14759.1																																																																																					0.761	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000061176.1		NM_020994		C	153881676	A	C	153881676	2	2	35	1	0	0	0	0	0	0	0	1	3993	146	6	4		4	CTAG2	23	153881676	Silent	SNP	A	TCGA-2G-AAGO-01A-11D-A42Y-10	77026647	153881676	1388884	81	2506											
SKI	6497	broad.mit.edu	37	chr1	2160966	2160966	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggactgccgcctcatgtAcccgccgcacaagttcgtgg	6	8	11	16	4	1	0	1	0	0	0	2	1	1	1	5	2	2	3	5	2	2	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr1:2160966A>C	ENST00000378536.4	+	1	833	c.761A>C	c.(760-762)tAc>tCc	p.Y254S		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	254					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CGCCTCATGTACCCGCCGCAC	0.657																																					p.Y254S	Ovarian(177;144 1678 13697 20086 27838 40755)												.	SKI	33		0			c.A761C												27	30	29					1																	2160966		2186	4290	6476	SO:0001583	missense	6497	exon1			TCATGTACCCGCC	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.761A>C	1.37:g.2160966A>C	ENSP00000367797:p.Tyr254Ser		27	0.1111111111	3		30	0.2	6	NM_003036	42	0.02	1	Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.574386	0.65878	.	.	ENSG00000157933	ENST00000378536	D	0.96587	-4.06	4.39	4.39	0.52855	SAND domain-like (2);c-SKI Smad4-binding (1);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	L	0.60455	1.87	0.50467	D	0.999871	D	0.71674	0.998	D	0.65874	0.939	D	0.97395	0.9992	10	0.87932	D	0	-24.0972	12.7864	0.57507	1.0:0.0:0.0:0.0	.	254	P12755	SKI_HUMAN	S	254	ENSP00000367797:Y254S	ENSP00000367797:Y254S	Y	+	2	0	SKI	2150826	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.909000	0.48758	1.620000	0.50308	0.323000	0.21402	TAC			0.657	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004070.1		NM_003036		C	2160966	A	C	2160966	3	2	36	1	0	0	0	0	1	0	0	0	14380	391	14	4	763	4	SKI	1	2160966	Missense_Mutation	SNP	A	TCGA-2G-AAGP-01A-11D-A42Y-10		2160966	247089655	1	2507											
PER3	8863	mdanderson.org	37	chr1	7902773	7902773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagattcagctgatggtgcGgccacatcctgtggtcaggt	8	10	14	9	1	2	2	2	1	0	1	3	3	3	2	2	4	2	1	2	4	1	1	rs144281505		TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr1:7902773G>A	ENST00000361923.2	+	21	3739	c.3564G>A	c.(3562-3564)gcG>gcA	p.A1188A	PER3_ENST00000377532.3_Silent_p.A1197A	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1188	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	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;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGGTGCGGCCACATCCT	0.453													G|||	1	0.000199681	0	0	5008	,	,		14454	0		0.001	False		,,,				2504	0				p.A1188A													.	.			0			c.G3564A							G		1,4405	2.1+/-5.4	0,1,2202	184	160	168		3564	-6.7	0	1	dbSNP_134	168	0,8600		0,0,4300	no	coding-synonymous	PER3	NM_016831.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1188/1202	7902773	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8863	exon21			TGGTGCGGCCACA	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3564G>A	1.37:g.7902773G>A			101	0	0		63	0.05	3	NM_016831	10	0	0	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	CCDS89.1																																																																																			0		0.453	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000003607.1		NM_016831		A	7902773	G	A	7902773	2	1	36	1	0	0	0	0	0	0	0	1	11748	1103	39	1		1	PER3	1	7902773	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	5741807	7902773	241347848	2	2508											
UBE4B	10277	mdanderson.org	37	chr1	10182134	10182134	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagaagtgttcaagcaGgtacggtcgtatgagtttgc	11	11	14	5	2	1	3	1	2	0	1	2	4	1	3	0	2	3	5	0	2	5	4			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr1:10182134G>T	ENST00000253251.8	+	9	2006	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H	UBE4B_ENST00000343090.6_Splice_Site_p.Q518H|UBE4B_ENST00000377157.3_Splice_Site_p.Q273H|UBE4B_ENST00000475795.1_3'UTR					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)		TGTTCAAGCAGGTACGGTCGT	0.453																																					p.Q518H													.	.			0			c.G1554T												100	88	92					1																	10182134		2203	4300	6503	SO:0001630	splice_region_variant	10277	exon10			CAAGCAGGTACGG	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.1167+1G>T	1.37:g.10182134G>T			101	0	0		54	0.06	3	NM_001105562	36	0	0		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241574	0.58995	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.47177	0.85;0.85;0.85	5.72	5.72	0.89469	.	0.177217	0.52532	D	0.000068	T	0.39332	0.1074	L	0.31926	0.97	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.14392	-1.0474	10	0.49607	T	0.09	-22.2682	14.6972	0.69132	0.0:0.0:0.855:0.145	.	518;389	O95155;O95155-2	UBE4B_HUMAN;.	H	389;273;518	ENSP00000253251:Q389H;ENSP00000366362:Q273H;ENSP00000343001:Q518H	ENSP00000253251:Q389H	Q	+	3	2	UBE4B	10104721	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.238000	0.78173	2.693000	0.91896	0.655000	0.94253	CAG			0.453	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005017.1		NM_006048	Missense_Mutation	T	10182134	G	T	10182134	5	4	36	1	0	0	0	0	0	0	1	0	16907	1014	35	3	1592	3	UBE4B	1	10182134	Splice_Site	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	2279361	10182134	239068487	3	2509											
EPB41	2035	broad.mit.edu	37	chr1	29379772	29379772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgaaggctgaagtgaaaaAggaagacgagccacctgagc	16	4	14	7	1	0	5	0	4	0	1	0	7	0	6	2	2	2	1	2	2	5	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr1:29379772A>G	ENST00000343067.4	+	12	1920	c.1793A>G	c.(1792-1794)aAg>aGg	p.K598R	EPB41_ENST00000349460.4_Missense_Mutation_p.K389R|EPB41_ENST00000398863.2_Missense_Mutation_p.K598R|EPB41_ENST00000373797.1_Missense_Mutation_p.K598R|EPB41_ENST00000356093.2_Missense_Mutation_p.K598R|EPB41_ENST00000373798.1_Missense_Mutation_p.K598R|EPB41_ENST00000347529.3_Missense_Mutation_p.K563R|EPB41_ENST00000373800.3_Missense_Mutation_p.K389R	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	598	Hydrophilic.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAAGTGAAAAAGGAAGACGAG	0.483																																					p.K598R													.	EPB41	118		0			c.A1793G												87	92	90					1																	29379772		2203	4300	6503	SO:0001583	missense	2035	exon12			TGAAAAAGGAAGA	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1793A>G	1.37:g.29379772A>G	ENSP00000345259:p.Lys598Arg		423	0	0		360	0.02	7	NM_001166006	58	0	0	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	A	8.287	0.816906	0.16607	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;T;D;D	0.84370	-1.84;-1.77;-1.62;-1.78;-1.8;-1.48;-1.84;-1.74	5.7	-7.73	0.01245	.	1.621660	0.03076	N	0.157807	T	0.65780	0.2724	N	0.11927	0.2	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.001;0.001;0.001;0.001;0.001;0.001	T	0.57075	-0.7873	10	0.12766	T	0.61	.	5.6076	0.17389	0.1761:0.2083:0.5128:0.1027	.	492;598;598;598;598;598;615;563;389;389	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	R	615;598;598;598;492;598;389;389;563;598;598	ENSP00000345259:K598R;ENSP00000348397:K598R;ENSP00000381839:K598R;ENSP00000317597:K389R;ENSP00000362906:K389R;ENSP00000290100:K563R;ENSP00000362904:K598R;ENSP00000362903:K598R	ENSP00000345259:K598R	K	+	2	0	EPB41	29252359	0.000000	0.05858	0.073000	0.20177	0.997000	0.91878	-1.049000	0.03514	-1.099000	0.03034	0.533000	0.62120	AAG			0.483	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010312.1		NM_203342		G	29379772	A	G	29379772	3	3	36	1	0	0	0	0	1	0	0	0	5158	72	3	4	1835	4	EPB41	1	29379772	Missense_Mutation	SNP	A	TCGA-2G-AAGP-01A-11D-A42Y-10	19197638	29379772	219870849	4	2510											
PRKAA2	5563	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	57111084	57111084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagaagcagaagcacgaCgggcgggtgaagatcggaca	13	3	17	8	4	0	4	0	2	0	3	1	7	0	5	0	3	2	3	0	3	3	0	rs200643979		TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr1:57111084C>A	ENST00000371244.4	+	1	90	c.24C>A	c.(22-24)gaC>gaA	p.D8E		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	8					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AGAAGCACGACGGGCGGGTGA	0.701																																					p.D8E													.	.			0			c.C24A												37	36	37					1																	57111084		2192	4286	6478	SO:0001583	missense	5563	exon1			GCACGACGGGCGG	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.24C>A	1.37:g.57111084C>A	ENSP00000360290:p.Asp8Glu		100	0	0		109	0.08	9	NM_006252	0		0	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605015	0.28623	.	.	ENSG00000162409	ENST00000371244	T	0.70749	-0.51	4.0	0.879	0.19155	Protein kinase-like domain (1);	0.122891	0.53938	U	0.000052	T	0.44201	0.1282	N	0.13098	0.295	0.38340	D	0.94404	B	0.02656	0.0	B	0.01281	0.0	T	0.09997	-1.0649	10	0.15499	T	0.54	-8.5572	4.7574	0.13092	0.0:0.5718:0.1571:0.2712	.	8	P54646	AAPK2_HUMAN	E	8	ENSP00000360290:D8E	ENSP00000360290:D8E	D	+	3	2	PRKAA2	56883672	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	0.653000	0.24902	-0.121000	0.11787	0.306000	0.20318	GAC			0.701	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022753.2		NM_006252		A	57111084	C	A	57111084	3	1	36	1	0	0	0	0	1	0	0	0	12514	535	19	1	26	1	PRKAA2	1	57111084	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	27731312	57111084	192139537	5	2511											
OR2B11	127623	mdanderson.org	37	chr1	247614868	247614868	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagagagcacggtgcatGagaacggcatagtgcagggg	12	5	17	7	2	0	3	0	2	0	2	0	5	0	3	0	4	4	4	0	4	2	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr1:247614868G>T	ENST00000318749.6	-	1	440	c.417C>A	c.(415-417)ctC>ctA	p.L139L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	139						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(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CACGGTGCATGAGAACGGCAT	0.622																																					p.L139L													.	.			0			c.C417A												80	66	70					1																	247614868		2203	4300	6503	SO:0001819	synonymous_variant	127623	exon1			GTGCATGAGAACG		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.417C>A	1.37:g.247614868G>T			57	0	0		43	0.07	3	NM_001004492	0		0	B2RP03	Silent	SNP	ENST00000318749.6	37	CCDS31090.1																																																																																					0.622	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097620.1		NM_001004492		T	247614868	G	T	247614868	2	4	36	1	0	0	0	0	0	0	0	1	11005	1277	45	3		3	OR2B11	1	247614868	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	190503784	247614868	1635753	6	2512											
APOB	338	broad.mit.edu	37	chr2	21266752	21266754	+	In_Frame_Del	DEL	CAG	CAG	-																															tcaccggccctggcgcccgcCagcagcagcagcagcagcgc																										TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr2:21266752_21266754delCAG	ENST00000233242.1	-	1	191_193	c.64_66delCTG	c.(64-66)ctgdel	p.L22del	APOB_ENST00000399256.4_In_Frame_Del_p.L22del	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	22					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)					TGGCGCCCGCcagcagcagcagc	0.793																																					p.22_22del													.	APOB	761		0			c.64_66del									3,591		1,1,295						-2.7	0			1	21,1493		6,9,742	no	coding	APOB	NM_000384.2		7,10,1037	A1A1,A1R,RR		1.3871,0.5051,1.1385				24,2084				SO:0001651	inframe_deletion	338	exon1			GCCCGCCAGCAGC	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.64_66delCTG	2.37:g.21266761_21266763delCAG	ENSP00000233242:p.Leu22del		4	0	0		6	0.33	2	NM_000384	0		0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	ENST00000233242.1	37	CCDS1703.1																																																																																					0.793	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1				-	21266754	CAG	-	21266752	7	5	36	1	0	1	0	1	0	0	0	0	785	581	21	0	13741	0	APOB	2	21266752	In_Frame_Del	DEL	CAG	TCGA-2G-AAGP-01A-11D-A42Y-10		21266752	221932621	7	2513											
SCN7A	6332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	167313390	167313390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatagatacctcatctgttTcatttccttcttgaagttct	9	19	4	9	0	5	2	2	1	3	1	6	2	6	2	2	0	1	2	2	0	4	8			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr2:167313390T>A	ENST00000409855.1	-	10	1406	c.1280A>T	c.(1279-1281)gAa>gTa	p.E427V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	427					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CTCATCTGTTTCATTTCCTTC	0.289																																					p.E427V													.	.			0			c.A1280T												70	60	63					2																	167313390		1704	3841	5545	SO:0001583	missense	6332	exon10			TCTGTTTCATTTC	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1280A>T	2.37:g.167313390T>A	ENSP00000386796:p.Glu427Val		82	0	0		59	0.19	11	NM_002976	3	0.33	1		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708019	0.30322	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97303	-4.33;-4.31	4.58	0.737	0.18314	.	0.542520	0.16434	N	0.214609	D	0.94512	0.8233	M	0.79693	2.465	0.09310	N	1	B	0.26400	0.148	B	0.18871	0.023	D	0.87797	0.2622	10	0.45353	T	0.12	.	2.276	0.04103	0.1547:0.0889:0.1609:0.5954	.	427	Q01118	SCN7A_HUMAN	V	427	ENSP00000386796:E427V;ENSP00000413699:E427V	ENSP00000259060:E427V	E	-	2	0	SCN7A	167021636	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.264000	0.18497	-0.023000	0.13963	0.454000	0.30748	GAA			0.289	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333745.1				A	167313390	T	A	167313390	3	1	36	1	0	0	0	0	1	0	0	0	13946	1783	62	5	3832	5	SCN7A	2	167313390	Missense_Mutation	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10	146046638	167313390	75885983	8	2514											
SMARCAL1	50485	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	217329366	217329366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcttcttcaacagaacagCtgaagctaaaatcccatctg	13	11	5	12	0	4	2	1	1	3	1	6	2	5	2	1	0	4	2	1	0	5	3			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr2:217329366C>T	ENST00000357276.4	+	13	2447	c.2117C>T	c.(2116-2118)gCt>gTt	p.A706V	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A706V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	706					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)		AACAGAACAGCTGAAGCTAAA	0.383									Schimke Immuno-Osseous Dysplasia																												p.A706V													.	.			0			c.C2117T												159	157	158					2																	217329366		2203	4300	6503	SO:0001583	missense	50485	exon13	Familial Cancer Database	SIOD	GAACAGCTGAAGC	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.2117C>T	2.37:g.217329366C>T	ENSP00000349823:p.Ala706Val		70	0	0		68	0.15	10	NM_014140	63	0.22	14	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724593	0.89298	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	T;T;T	0.80123	-1.34;-1.34;-1.34	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.90143	0.6920	M	0.86343	2.81	0.58432	D	0.999996	P	0.51791	0.948	P	0.61132	0.884	D	0.91337	0.5094	10	0.72032	D	0.01	-14.0005	17.6906	0.88268	0.0:1.0:0.0:0.0	.	706	Q9NZC9	SMAL1_HUMAN	V	706;706;548	ENSP00000349823:A706V;ENSP00000350940:A706V;ENSP00000375974:A548V	ENSP00000349823:A706V	A	+	2	0	SMARCAL1	217037611	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.933000	0.70130	2.765000	0.95021	0.650000	0.86243	GCT			0.383	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256671.2				T	217329366	C	T	217329366	3	4	36	1	0	0	0	0	1	0	0	0	14796	797	28	2	2159	2	SMARCAL1	2	217329366	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	50015976	217329366	25870007	9	2515											
TMEM115	11070	mdanderson.org	37	chr3	50396199	50396199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccactgagaagaagatgAgcagctccaaggccccccag	13	4	10	14	0	1	4	1	2	0	3	2	5	2	4	5	1	2	2	5	1	3	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr3:50396199A>G	ENST00000266025.3	-	1	842	c.296T>C	c.(295-297)cTc>cCc	p.L99P	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	99					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAAGAAGATGAGCAGCTCCAA	0.607																																					p.L99P													.	.			0			c.T296C												68	81	76					3																	50396199		2203	4300	6503	SO:0001583	missense	11070	exon1			AAGATGAGCAGCT	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"placental protein 6"	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.296T>C	3.37:g.50396199A>G	ENSP00000266025:p.Leu99Pro		52	0	0		47	0.06	3	NM_007024	116	0	0	A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	ENST00000266025.3	37	CCDS2828.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456353	0.84317	.	.	ENSG00000126062	ENST00000266025	T	0.16196	2.36	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50874	-0.8776	10	0.72032	D	0.01	12.0165	14.4388	0.67301	1.0:0.0:0.0:0.0	.	99	Q12893	TM115_HUMAN	P	99	ENSP00000266025:L99P	ENSP00000266025:L99P	L	-	2	0	TMEM115	50371203	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.994000	0.93529	2.110000	0.64415	0.460000	0.39030	CTC			0.607	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000102784.3		NM_007024		G	50396199	A	G	50396199	3	3	36	1	0	0	0	0	1	0	0	0	16052	304	11	4	767	4	TMEM115	3	50396199	Missense_Mutation	SNP	A	TCGA-2G-AAGP-01A-11D-A42Y-10		50396199	147626231	10	2516											
RBM15B	29890	broad.mit.edu;bcgsc.ca	37	chr3	51430005	51430023	+	Frame_Shift_Del	DEL	GGGCTAAGGTGGCCATGTC	GGGCTAAGGTGGCCATGTC	-																															gaacctggacatggcccataGggctaaggtggccatgtcgg																										TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	GGGCTAAGGTGGCCATGTC	GGGCTAAGGTGGCCATGTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr3:51430005_51430023delGGGCTAAGGTGGCCATGTC	ENST00000323686.4	+	1	1275_1293	c.1175_1193delGGGCTAAGGTGGCCATGTC	c.(1174-1194)agggctaaggtggccatgtcgfs	p.RAKVAMS392fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	392	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		ATGGCCCATAGGGCTAAGGTGGCCATGTCGGGCCGAGTG	0.589																																					p.392_398del													RBM15B,colon,carcinoma,0,1	RBM15B	47	1	0			c.1175_1193del																																									SO:0001589	frameshift_variant	29890	exon1			CCCATAGGGCTAA	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.1175_1193delGGGCTAAGGTGGCCATGTC	3.37:g.51430005_51430023delGGGCTAAGGTGGCCATGTC	ENSP00000313890:p.Arg392fs		146	0	0		109	0.08	9	NM_013286	64	0	0	A4QPG7|Q6QE19|Q9BV96	Frame_Shift_Del	DEL	ENST00000323686.4	37	CCDS33764.1																																																																																					0.589	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346489.1		NM_013286		-	51430023	GGGCTAAGGTGGCCATGTC	-	51430005	7	5	36	1	0	1	0	1	0	0	0	0	13140	1000	35	0	1177	0	RBM15B	3	51430005	Frame_Shift_Del	DEL	GGGCTAAGGTGGCCATGTC	TCGA-2G-AAGP-01A-11D-A42Y-10	1033806	51430005	146592425	11	2517											
PARP9	83666	broad.mit.edu	37	chr3	122255025	122255025	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgacacctaccgcaaggtgtCgagtacattctttgaaagcc	11	10	9	11	2	1	2	0	2	1	0	2	3	1	2	3	1	3	2	3	1	4	4			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr3:122255025C>G	ENST00000360356.2	-	10	2402	c.2175G>C	c.(2173-2175)tcG>tcC	p.S725S	PARP9_ENST00000492382.1_Silent_p.S270S|PARP9_ENST00000477522.2_Silent_p.S690S|PARP9_ENST00000471785.1_Silent_p.S690S|PARP9_ENST00000462315.1_Silent_p.S690S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	725	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)		CGCAAGGTGTCGAGTACATTC	0.463																																					p.S725S													.	PARP9	72		0			c.G2175C												219	182	195					3																	122255025		2203	4300	6503	SO:0001819	synonymous_variant	83666	exon10			AGGTGTCGAGTAC	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.2175G>C	3.37:g.122255025C>G			283	0	0		277	0.02	6	NM_031458	140	0.04	6	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	CCDS3014.1																																																																																					0.463	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000355957.1	rescued with RNA-seq	NM_031458		G	122255025	C	G	122255025	2	3	36	1	0	0	0	0	0	0	0	1	11483	871	31	5		5	PARP9	3	122255025	Silent	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	70825020	122255025	75767405	12	2518											
CLSTN2	64084	mdanderson.org	37	chr3	140281041	140281041	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctgtgacattttggtGatcggaggggacttggaccc	7	13	14	7	1	1	2	0	2	1	0	2	6	1	5	1	5	0	0	1	5	0	4			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr3:140281041G>T	ENST00000458420.3	+	13	2293	c.2103G>T	c.(2101-2103)gtG>gtT	p.V701V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	701					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						ACATTTTGGTGATCGGAGGGG	0.488										HNSCC(16;0.037)																											p.V701V	GBM(45;858 913 3709 36904 37282)												.	.			0			c.G2103T												107	103	104					3																	140281041		2203	4300	6503	SO:0001819	synonymous_variant	64084	exon13			TTTGGTGATCGGA	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.2103G>T	3.37:g.140281041G>T			100	0	0		69	0.06	4	NM_022131	4	0	0	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	CCDS3112.1																																																																																					0.488	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359393.3		NM_022131		T	140281041	G	T	140281041	2	4	36	1	0	0	0	0	0	0	0	1	3564	1277	45	3		3	CLSTN2	3	140281041	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	18026016	140281041	57741389	13	2519											
CHST2	9435	broad.mit.edu	37	chr3	142840095	142840095	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcggcagggatggcgggggTtgcggcccctccaggcaatg	5	5	19	12	4	0	0	0	0	0	0	1	1	1	1	3	7	1	3	3	7	1	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr3:142840095T>G	ENST00000309575.3	+	2	1821	c.437T>G	c.(436-438)gTt>gGt	p.V146G		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	146					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						ATGGCGGGGGTTGCGGCCCCT	0.731																																					p.V146G													.	CHST2	67		0			c.T437G												6	8	7					3																	142840095		2129	4205	6334	SO:0001583	missense	9435	exon2			CGGGGGTTGCGGC	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.437T>G	3.37:g.142840095T>G	ENSP00000307911:p.Val146Gly		44	0.2954545455	13		45	0.27	12	NM_004267	34	0.06	2	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	T	2.191	-0.385339	0.04966	.	.	ENSG00000175040	ENST00000309575	D	0.96459	-4.02	4.3	-0.151	0.13411	.	.	.	.	.	D	0.86293	0.5898	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76691	-0.2866	9	0.15066	T	0.55	-25.9731	5.8433	0.18645	0.0:0.5203:0.2944:0.1853	.	146	Q9Y4C5	CHST2_HUMAN	G	146	ENSP00000307911:V146G	ENSP00000307911:V146G	V	+	2	0	CHST2	144322785	0.035000	0.19736	0.067000	0.19924	0.009000	0.06853	0.045000	0.14013	0.074000	0.16767	-0.548000	0.04221	GTT			0.731	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354850.1		NM_004267		G	142840095	T	G	142840095	3	3	36	1	0	0	0	0	1	0	0	0	3406	1725	60	4	439	4	CHST2	3	142840095	Missense_Mutation	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10	2559054	142840095	55182335	14	2520											
PRSS12	8492	broad.mit.edu	37	chr4	119252936	119252936	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggtcatcacaaacggtTccccactggccagcatggta	10	9	9	13	1	2	0	2	0	0	0	3	0	3	0	3	4	2	3	3	4	2	3			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr4:119252936T>G	ENST00000296498.3	-	4	1188	c.906A>C	c.(904-906)ggA>ggC	p.G302G		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	302	SRCR 2. {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						CACAAACGGTTCCCCACTGGC	0.527																																					p.G302G													.	PRSS12	71		0			c.A906C												89	79	82					4																	119252936		2203	4300	6503	SO:0001819	synonymous_variant	8492	exon4			AACGGTTCCCCAC	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.906A>C	4.37:g.119252936T>G			372	0.0080645161	3		302	0.03	8	NM_003619	10	0	0	Q9UP16	Silent	SNP	ENST00000296498.3	37	CCDS3709.1																																																																																					0.527	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256516.2				G	119252936	T	G	119252936	2	3	36	1	0	0	0	0	0	0	0	1	12635	1770	62	4		4	PRSS12	4	119252936	Silent	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10		119252936	71901340	15	2521											
SLC6A19	340024	hgsc.bcm.edu	37	chr5	1216727	1216727	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatcaacggcttcacatcGgtgtatgtggccatcgtggt	8	12	11	10	3	3	0	3	0	0	0	5	0	3	0	1	4	1	2	1	4	2	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr5:1216727G>T	ENST00000304460.10	+	7	998	c.942G>T	c.(940-942)tcG>tcT	p.S314S		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	314					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)	p.S314S(1)		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)			GCTTCACATCGGTGTATGTGG	0.587																																					p.S314S													SLC6A19,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	SLC6A19	0	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G942T												295	211	240					5																	1216727		2203	4300	6503	SO:0001819	synonymous_variant	340024	exon7			CACATCGGTGTAT	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.942G>T	5.37:g.1216727G>T			124	0	0		82	0.05	4	NM_001003841	4	0	0	A8K446	Silent	SNP	ENST00000304460.10	37	CCDS34130.1																																																																																					0.587	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365557.1		XM_291120		T	1216727	G	T	1216727	2	4	36	1	0	0	0	0	0	0	0	1	14705	1103	39	1		1	SLC6A19	5	1216727	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		1216727	179698533	16	2522											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730563	140730563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagccaggaggtatacaggGttagcctccaagaaaacgta	14	8	11	8	1	0	1	0	0	0	1	1	2	1	2	3	3	4	3	3	3	8	5			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr5:140730563G>T	ENST00000523390.1	+	1	736	c.736G>T	c.(736-738)Gtt>Ttt	p.V246F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	246	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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATACAGGGTTAGCCTCCA	0.562																																					p.V246F													.	PCDHGB1	198		0			c.G736T												89	93	92					5																	140730563		2011	4175	6186	SO:0001583	missense	0	exon1			TACAGGGTTAGCC	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.736G>T	5.37:g.140730563G>T	ENSP00000429273:p.Val246Phe		135	0	0		114	0.03	3	NM_018922	0		0	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.525996	0.44969	.	.	ENSG00000254221	ENST00000523390	T	0.01099	5.34	5.44	4.57	0.56435	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05868	0.0153	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.60575	0.986;0.988	D;D	0.69479	0.955;0.964	T	0.10941	-1.0608	9	0.72032	D	0.01	.	14.0984	0.65039	0.0739:0.0:0.9261:0.0	.	246;246	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	F	246	ENSP00000429273:V246F	ENSP00000429273:V246F	V	+	1	0	PCDHGB1	140710747	0.970000	0.33590	0.186000	0.23195	0.564000	0.35744	5.612000	0.67681	1.409000	0.46915	0.563000	0.77884	GTT			0.562	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374740.1		NM_018922		T	140730563	G	T	140730563	3	4	36	1	0	0	0	0	1	0	0	0	11579	1261	44	3	738	3	PCDHGB1	5	140730563	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	139513836	140730563	40184697	17	2523											
TBC1D9B	23061	mdanderson.org	37	chr5	179306156	179306156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccacgcccgtactcgaaGaagtggatgtgccatgactc	10	7	11	13	4	0	2	0	1	0	1	2	4	0	3	3	1	2	1	3	1	3	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr5:179306156G>T	ENST00000356834.3	-	9	1495	c.1458C>A	c.(1456-1458)ttC>ttA	p.F486L	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.F486L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	486						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)			CGTACTCGAAGAAGTGGATGT	0.622																																					p.F486L													.	.			0			c.C1458A												61	54	56					5																	179306156		2203	4300	6503	SO:0001583	missense	23061	exon9			CTCGAAGAAGTGG	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.1458C>A	5.37:g.179306156G>T	ENSP00000349291:p.Phe486Leu		27	0	0		12	0.17	2	NM_015043	90	0	0	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	CCDS43408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.546111|2.546111	0.45383|0.45383	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000356834;ENST00000355235|ENST00000522472	T;T|.	0.04049|.	3.72;3.72|.	5.28|5.28	3.49|3.49	0.39957|0.39957	Rab-GAP/TBC domain (1);|.	0.115737|.	0.64402|.	D|.	0.000011|.	T|T	0.72993|0.72993	0.3530|0.3530	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	P;P;B|.	0.47191|.	0.826;0.891;0.011|.	P;P;B|.	0.55577|.	0.606;0.779;0.056|.	T|T	0.71922|0.71922	-0.4446|-0.4446	10|5	0.33141|.	T|.	0.24|.	-27.9664|-27.9664	9.3107|9.3107	0.37903|0.37903	0.2219:0.0:0.7781:0.0|0.2219:0.0:0.7781:0.0	.|.	486;486;486|.	A1L3A9;Q66K14-2;Q66K14|.	.;.;TBC9B_HUMAN|.	L|I	486|40	ENSP00000349291:F486L;ENSP00000347375:F486L|.	ENSP00000347375:F486L|.	F|L	-|-	3|1	2|0	TBC1D9B|TBC1D9B	179238762|179238762	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.646000|0.646000	0.38490|0.38490	2.923000|2.923000	0.48868|0.48868	0.615000|0.615000	0.30124|0.30124	0.550000|0.550000	0.68814|0.68814	TTC|CTT			0.622	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253501.3		NM_015043		T	179306156	G	T	179306156	3	4	36	1	0	0	0	0	1	0	0	0	15651	933	33	3	2350	3	TBC1D9B	5	179306156	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	38575593	179306156	1609104	18	2524											
GNB2L1	10399	broad.mit.edu;mdanderson.org	37	chr5	180668627	180668627	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggcccacaaatcgcctCgtggtggtgcccctgagagg	7	8	14	12	2	0	1	0	1	0	1	2	2	0	1	4	4	1	1	4	4	2	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr5:180668627C>A	ENST00000512805.1	-	3	702	c.294G>T	c.(292-294)acG>acT	p.T98T	GNB2L1_ENST00000514455.1_5'Flank|GNB2L1_ENST00000456394.2_Silent_p.T98T|GNB2L1_ENST00000376817.4_Silent_p.T54T|SNORD95_ENST00000579879.1_RNA|GNB2L1_ENST00000511900.1_Intron|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Silent_p.T98T|GNB2L1_ENST00000505461.1_5'UTR	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	98				Missing (in Ref. 4; BAG53102). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	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;0.000209)|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)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CAAATCGCCTCGTGGTGGTGC	0.502																																					p.T98T													.	GNB2L1	22		0			c.G294T												105	88	94					5																	180668627		2203	4300	6503	SO:0001819	synonymous_variant	10399	exon3			TCGCCTCGTGGTG	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"WD repeat domain containing"	4399	protein-coding gene	gene with protein product	"Receptor for Activated C Kinase 1"	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.294G>T	5.37:g.180668627C>A			67	0	0		45	0.11	5	NM_006098	2875	0.3	862	B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Silent	SNP	ENST00000512805.1	37	CCDS34324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.485057|2.485057	0.44147|0.44147	.|.	.|.	ENSG00000204628|ENSG00000204628	ENST00000502905;ENST00000504128|ENST00000507756	.|.	.|.	.|.	5.76|5.76	-11.5|-11.5	0.00074|0.00074	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52757	.|0.1754	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69514	.|-0.5125	.|5	.|0.87932	.|D	.|0	-6.752|-6.752	6.7187|6.7187	0.23318|0.23318	0.0822:0.4598:0.0896:0.3684|0.0822:0.4598:0.0896:0.3684	.|.	.|.	.|.	.|.	X|L	16;5|29	.|.	.|ENSP00000426270:R61L	E|R	-|-	1|2	0|0	GNB2L1|GNB2L1	180601233|180601233	0.009000|0.009000	0.17119|0.17119	0.003000|0.003000	0.11579|0.11579	0.310000|0.310000	0.27922|0.27922	-1.224000|-1.224000	0.02959|0.02959	-1.735000|-1.735000	0.01353|0.01353	-0.140000|-0.140000	0.14226|0.14226	GAG|CGA			0.502	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372943.2		NM_006098		A	180668627	C	A	180668627	2	1	36	1	0	0	0	0	0	0	0	1	6532	871	31	1		1	GNB2L1	5	180668627	Silent	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	1362471	180668627	246633	19	2525											
BTN2A2	10385	hgsc.bcm.edu	37	chr6	26384092	26384092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctccctgccagcctccCtcctcctcctcctgctcctc	2	12	3	24	0	1	0	0	0	1	0	9	0	7	0	9	0	3	1	9	0	0	1	rs546542545		TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr6:26384092C>T	ENST00000356709.4	+	2	154	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	BTN2A2_ENST00000482536.1_Missense_Mutation_p.L15F|BTN2A2_ENST00000352867.2_Missense_Mutation_p.L15F|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L15F|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L15F|BTN2A2_ENST00000432533.2_Missense_Mutation_p.L15F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	15					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GCCAGCCTCcctcctcctcct	0.587																																					p.L15F													BTN2A2_ENST00000432533,bladder,carcinoma,-1,2	BTN2A2_ENST00000432533	-1	2	0			c.C43T												191	138	156					6																	26384092		2203	4300	6503	SO:0001583	missense	10385	exon2			GCCTCCCTCCTCC	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.43C>T	6.37:g.26384092C>T	ENSP00000349143:p.Leu15Phe		92	0.0108695652	1		100	0.05	5	NM_181531	36	0	0	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	c	14.03	2.412871	0.42817	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000352867;ENST00000493275;ENST00000472507;ENST00000482536;ENST00000432533;ENST00000416795;ENST00000494184;ENST00000483410	T;T;T;T;T;T;D;T;T;T	0.90444	3.76;1.1;0.43;4.24;3.36;-0.21;-2.67;1.1;2.29;3.8	2.01	1.1	0.20463	.	0.656368	0.12607	N	0.454165	T	0.62085	0.2399	N	0.08118	0	0.21675	N	0.999591	B;B;B;B;B;B	0.24132	0.003;0.008;0.098;0.014;0.003;0.003	B;B;B;B;B;B	0.15052	0.002;0.003;0.012;0.006;0.002;0.002	T	0.57562	-0.7790	10	0.87932	D	0	.	4.8159	0.13367	0.0:0.8071:0.0:0.1929	.	15;15;15;15;15;15	E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;BT2A2_HUMAN	F	15	ENSP00000417472:L15F;ENSP00000349143:L15F;ENSP00000337117:L15F;ENSP00000418857:L15F;ENSP00000419226:L15F;ENSP00000419451:L15F;ENSP00000394241:L15F;ENSP00000399308:L15F;ENSP00000417511:L15F;ENSP00000418176:L15F	ENSP00000337117:L15F	L	+	1	0	BTN2A2	26492071	0.000000	0.05858	0.368000	0.25939	0.580000	0.36256	-0.390000	0.07332	0.383000	0.24910	0.298000	0.19748	CTC			0.587	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040117.1				T	26384092	C	T	26384092	3	4	36	1	0	0	0	0	1	0	0	0	1563	681	24	3	45	3	BTN2A2	6	26384092	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10		26384092	144730975	20	2526											
NKAPL	222698	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	28228082	28228082	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagctatggctgagtaTgtaaaagctggaaagcgaat	13	9	14	5	1	0	1	0	1	0	0	0	3	0	2	0	3	4	6	0	3	6	3			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr6:28228082T>C	ENST00000343684.3	+	1	985	c.933T>C	c.(931-933)taT>taC	p.Y311Y	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	311										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TGGCTGAGTATGTAAAAGCTG	0.448																																					p.Y311Y													NKAPL,NS,carcinoma,0,1	NKAPL	0	1	0			c.T933C												126	127	127					6																	28228082		2203	4300	6503	SO:0001819	synonymous_variant	222698	exon1			TGAGTATGTAAAA	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.933T>C	6.37:g.28228082T>C			115	0	0		113	0.1	11	NM_001007531	4	0	0	Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	CCDS34353.1																																																																																					0.448	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040185.1				C	28228082	T	C	28228082	2	2	36	1	0	0	0	0	0	0	0	1	10457	1471	51	4		4	NKAPL	6	28228082	Silent	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10	1843990	28228082	142886985	21	2527											
TNFAIP3	7128	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	138200293	138200293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagatccctcgcggctcGtccggagcccctccccgcat	5	7	10	19	5	1	1	1	0	0	1	6	2	4	2	6	2	1	2	6	2	0	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr6:138200293G>C	ENST00000237289.4	+	7	1777	c.1711G>C	c.(1711-1713)Gtc>Ctc	p.V571L		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	571	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.V571I(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCGCGGCTCGTCCGGAGCCC	0.632			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																p.V571L	GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	TNFAIP3,rectum,carcinoma,-1,2	TNFAIP3	-1	2	26	Whole gene deletion(25)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(26)	c.G1711C												56	62	60					6																	138200293		2203	4300	6503	SO:0001583	missense	7128	exon7			CGGCTCGTCCGGA	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1711G>C	6.37:g.138200293G>C	ENSP00000237289:p.Val571Leu		65	0.0307692308	2		52	0.17	9	NM_001270507	56	0.14	8	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	2.975	-0.211559	0.06140	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.21932	1.98	5.84	-4.67	0.03319	.	1.311420	0.04429	N	0.368847	T	0.03348	0.0097	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35674	-0.9779	10	0.31617	T	0.26	-21.4622	4.3053	0.10944	0.3632:0.0909:0.4171:0.1288	.	571	P21580	TNAP3_HUMAN	L	571	ENSP00000237289:V571L	ENSP00000237289:V571L	V	+	1	0	TNFAIP3	138241986	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.086000	0.14935	-1.131000	0.02910	-1.165000	0.01757	GTC			0.632	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042414.1				C	138200293	G	C	138200293	3	2	36	1	0	0	0	0	1	0	0	0	16297	1145	40	5	1733	5	TNFAIP3	6	138200293	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	109972211	138200293	32914774	22	2528											
HIVEP2	3097	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	143091135	143091135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaagaactctgtgggcTcatgctcatgtccgatgccg	9	11	11	10	2	3	2	2	1	1	1	4	3	4	2	2	1	3	2	2	1	3	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr6:143091135T>C	ENST00000367604.1	-	4	5380	c.4741A>G	c.(4741-4743)Agc>Ggc	p.S1581G	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1581G|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1581G			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1581	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCTGTGGGCTCATGCTCATG	0.557																																					p.S1581G	Esophageal Squamous(107;843 1510 13293 16805 42198)												.	HIVEP2	225		0			c.A4741G												102	109	107					6																	143091135		2081	4219	6300	SO:0001583	missense	3097	exon5			GTGGGCTCATGCT	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4741A>G	6.37:g.143091135T>C	ENSP00000356576:p.Ser1581Gly		165	0.0060606061	1		159	0.2	32	NM_006734	8	0.25	2	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255306	0.59321	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03035	4.07;4.07;4.07	6.06	6.06	0.98353	.	0.035254	0.85682	D	0.000000	T	0.06371	0.0164	M	0.64567	1.98	0.51767	D	0.999932	D	0.60575	0.988	P	0.52343	0.696	T	0.19516	-1.0303	10	0.48119	T	0.1	-17.9503	16.6154	0.84909	0.0:0.0:0.0:1.0	.	1581	P31629	ZEP2_HUMAN	G	1581	ENSP00000356576:S1581G;ENSP00000356575:S1581G;ENSP00000012134:S1581G	ENSP00000012134:S1581G	S	-	1	0	HIVEP2	143132828	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.092000	0.71414	2.315000	0.78130	0.533000	0.62120	AGC			0.557	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042495.1				C	143091135	T	C	143091135	3	2	36	1	0	0	0	0	1	0	0	0	7202	1551	54	4	2623	4	HIVEP2	6	143091135	Missense_Mutation	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10	4890842	143091135	28023932	23	2529											
CREB5	9586	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	28547354	28547354	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggagagcagcaagcGggtaggtttgcttggatggc	10	7	19	5	1	0	2	0	0	0	2	0	5	0	4	0	6	4	5	0	6	3	3	rs142741982		TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr7:28547354G>A	ENST00000357727.2	+	4	680	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	CREB5_ENST00000396300.2_Splice_Site_p.R90Q|CREB5_ENST00000409603.1_Splice_Site_p.R64Q|CREB5_ENST00000396299.2_Splice_Site_p.R64Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	97					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGCAGCAAGCGGGTAGGTTTG	0.562																																					p.R97Q													CREB5,rectum,carcinoma,+1,1	CREB5	1	1	0			c.G290A												85	91	89					7																	28547354		2203	4300	6503	SO:0001630	splice_region_variant	9586	exon4			GCAAGCGGGTAGG	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.291+1G>A	7.37:g.28547354G>A			91	0	0		71	0.15	11	NM_182898	0		0	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235326	0.39498	.	.	ENSG00000146592	ENST00000396299;ENST00000424599;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.49	5.49	0.81192	.	0.055994	0.64402	D	0.000001	T	0.22282	0.0537	N	0.21448	0.665	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	T	0.07195	-1.0785	10	0.11794	T	0.64	-22.8426	18.1451	0.89652	0.0:0.0:1.0:0.0	.	97	Q02930	CREB5_HUMAN	Q	64;90;97;90;64	ENSP00000379593:R64Q;ENSP00000394088:R90Q;ENSP00000350359:R97Q;ENSP00000379594:R90Q;ENSP00000387197:R64Q	ENSP00000350359:R97Q	R	+	2	0	CREB5	28513879	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.925000	0.75829	2.592000	0.87571	0.655000	0.94253	CGG	0		0.562	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000214204.4		NM_004904	Missense_Mutation	A	28547354	G	A	28547354	5	1	36	1	0	0	0	0	0	0	1	0	3862	1130	39	1	304	1	CREB5	7	28547354	Splice_Site	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		28547354	130591309	24	2530											
VWC2	375567	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	49815586	49815586	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcaccgaggaggggccGctgtgcgcgcagcccgagtg	5	5	18	13	5	0	0	0	0	0	0	0	3	0	1	3	3	3	3	3	3	0	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr7:49815586G>C	ENST00000340652.4	+	2	1111	c.555G>C	c.(553-555)ccG>ccC	p.P185P		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	185	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						AGGAGGGGCCGCTGTGCGCGC	0.706																																					p.P185P													.	.			0			c.G555C												10	13	12					7																	49815586		2156	4205	6361	SO:0001819	synonymous_variant	375567	exon2			GGGGCCGCTGTGC	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.555G>C	7.37:g.49815586G>C			16	0	0		22	0.23	5	NM_198570	0		0	Q6UXE2	Silent	SNP	ENST00000340652.4	37	CCDS5508.1																																																																																					0.706	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251375.2		NM_198570		C	49815586	G	C	49815586	2	2	36	1	0	0	0	0	0	0	0	1	17267	1074	38	5		5	VWC2	7	49815586	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	21268232	49815586	109323077	25	2531											
ZC3HC1	51530	mdanderson.org	37	chr7	129691202	129691202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccctcacagggcgccGccatcttggtccgctgccga	4	9	11	17	4	2	0	1	0	1	0	4	1	4	0	5	2	1	1	5	2	0	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr7:129691202G>A	ENST00000358303.4	-	1	89	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A2V|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A2V|ZC3HC1_ENST00000311873.5_5'UTR	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	2					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)					ACAGGGCGCCGCCATCTTGGT	0.602																																					p.A2V	Melanoma(115;540 1606 16325 28853 48167)												.	.			0			c.C5T												40	43	42					7																	129691202		2203	4300	6503	SO:0001583	missense	51530	exon1			GGCGCCGCCATCT	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.5C>T	7.37:g.129691202G>A	ENSP00000351052:p.Ala2Val		119	0	0		95	0.05	5	NM_016478	8	0	0	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561785	0.65538	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000481503;ENST00000480193	T;T;T	0.50001	1.37;0.8;0.76	5.2	4.25	0.50352	.	0.061103	0.64402	D	0.000004	T	0.32793	0.0841	L	0.29908	0.895	0.80722	D	1	P	0.51653	0.947	B	0.37508	0.252	T	0.30504	-0.9976	10	0.62326	D	0.03	-11.1516	12.7085	0.57076	0.0:0.0:0.8251:0.1749	.	2	Q86WB0	NIPA_HUMAN	V	2	ENSP00000351052:A2V;ENSP00000353933:A2V;ENSP00000418533:A2V	ENSP00000351052:A2V	A	-	2	0	ZC3HC1	129478438	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.208000	0.51114	2.715000	0.92844	0.561000	0.74099	GCG			0.602	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349316.1		NM_016478		A	129691202	G	A	129691202	3	1	36	1	0	0	0	0	1	0	0	0	17600	1087	38	1	1543	1	ZC3HC1	7	129691202	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	79875616	129691202	29447461	26	2532											
SSPO	23145	mdanderson.org	37	chr7	149509500	149509500	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccacgggcacagggggagGtctgccaggctctgccctgc	5	5	17	14	1	2	0	0	0	2	0	2	1	2	1	3	6	3	2	3	6	0	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr7:149509500G>T	ENST00000378016.2	+	0	9898							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)			ACAGGGGGAGGTCTGCCAGGC	0.706																																					p.V3300F													.	.			0			c.G9898T												11	13	12					7																	149509500		1939	4107	6046			23145	exon69			GGGGAGGTCTGCC	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.149509500G>T			27	0.037037037	1		19	0.11	2	NM_198455	0		0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.706	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						T	149509500	G	T	149509500	1	4	36	0	1	0	0	0	0	0	0	0	15212	1261	44	3		3	SSPO	7	149509500	RNA	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	19818298	149509500	9629163	27	2533											
FAM83A	84985	broad.mit.edu	37	chr8	124219616	124219616	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccagtgaccgcacgtcCtccaaccccttcagcggccg	6	6	9	20	5	1	1	1	1	0	0	4	1	4	1	8	1	2	1	8	1	1	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr8:124219616C>G	ENST00000518448.1	+	5	3007	c.993C>G	c.(991-993)tcC>tcG	p.S331S	FAM83A_ENST00000546351.1_Silent_p.S275S|FAM83A_ENST00000276699.6_Silent_p.S331S|FAM83A_ENST00000522648.1_Silent_p.S275S|FAM83A_ENST00000318462.6_Silent_p.S331S|FAM83A_ENST00000536633.1_Silent_p.S331S			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	331	Ser-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)			ACCGCACGTCCTCCAACCCCT	0.741																																					p.S331S													.	FAM83A	64		0			c.C993G												12	15	14					8																	124219616		2185	4282	6467	SO:0001819	synonymous_variant	84985	exon4			CACGTCCTCCAAC	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.993C>G	8.37:g.124219616C>G			68	0	0		58	0.05	3	NM_032899	0		0	Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	CCDS6340.1																																																																																					0.741	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381737.1		NM_032899		G	124219616	C	G	124219616	2	3	36	1	0	0	0	0	0	0	0	1	5646	668	24	5		5	FAM83A	8	124219616	Silent	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10		124219616	22144406	28	2534											
TRPM6	140803	mdanderson.org	37	chr9	77390989	77390989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattccatatctaagtaaacGttgctgtaagatgaagtaag	15	12	9	5	1	1	2	0	1	1	1	2	3	2	2	1	0	2	5	1	0	7	7	rs376920206		TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr9:77390989G>T	ENST00000360774.1	-	24	3450	c.3213C>A	c.(3211-3213)aaC>aaA	p.N1071K	TRPM6_ENST00000449912.2_Missense_Mutation_p.N1066K|TRPM6_ENST00000451710.3_Missense_Mutation_p.N1071K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.N1071K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.N1066K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1071			N -> D (in dbSNP:rs2274922).		calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTAAGTAAACGTTGCTGTAAG	0.413																																					p.N1071K													.	.			0			c.C3213A												83	93	89					9																	77390989		2203	4300	6503	SO:0001583	missense	140803	exon24			GTAAACGTTGCTG	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3213C>A	9.37:g.77390989G>T	ENSP00000354006:p.Asn1071Lys		76	0	0		53	0.06	3	NM_017662	0		0	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392992	0.62066	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.57907	0.44;0.44;0.44;0.44;0.37	5.49	-6.89	0.01660	.	0.085849	0.85682	D	0.000000	T	0.60209	0.2251	M	0.84082	2.675	0.39432	D	0.967103	P;P;D	0.54601	0.945;0.942;0.967	B;P;P	0.51297	0.443;0.665;0.646	T	0.74487	-0.3649	10	0.87932	D	0	.	16.379	0.83439	0.3935:0.0:0.6065:0.0	.	1071;1066;1066	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	K	1071;1071;1066;1066;1071;734;734	ENSP00000354006:N1071K;ENSP00000407341:N1071K;ENSP00000396672:N1066K;ENSP00000354962:N1066K;ENSP00000366060:N1071K	ENSP00000309693:N734K	N	-	3	2	TRPM6	76580809	0.248000	0.23930	0.869000	0.34112	0.829000	0.46940	-0.177000	0.09796	-1.181000	0.02730	-0.948000	0.02665	AAC			0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000052693.1		NM_017662		T	77390989	G	T	77390989	3	4	36	1	0	0	0	0	1	0	0	0	16614	1136	40	1	2919	1	TRPM6	9	77390989	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		77390989	63822442	29	2535											
ANKS6	203286	hgsc.bcm.edu	37	chr9	101546298	101546298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgcttgtcaacatccGcgtgcctctccaccagcagc	6	10	8	17	2	2	0	1	0	1	0	5	0	4	0	5	0	5	2	5	0	1	1	rs376042242		TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr9:101546298G>T	ENST00000353234.4	-	4	1096	c.1049C>A	c.(1048-1050)gCg>gAg	p.A350E	ANKS6_ENST00000540940.1_Missense_Mutation_p.A155E|ANKS6_ENST00000375018.1_Missense_Mutation_p.A350E|ANKS6_ENST00000375019.2_Missense_Mutation_p.A49E			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	350						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTCAACATCCGCGTGCCTCTC	0.642																																					p.A350E													ANKS6,NS,carcinoma,-1,1	ANKS6	-1	1	0			c.C1049A												57	63	61					9																	101546298		2175	4270	6445	SO:0001583	missense	203286	exon4			ACATCCGCGTGCC	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1049C>A	9.37:g.101546298G>T	ENSP00000297837:p.Ala350Glu		61	0	0		49	0.04	2	NM_173551	29	0	0	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034540	0.75617	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.61742	0.85;0.85;0.85;0.08	5.52	5.52	0.82312	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	M	0.89658	3.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.84493	0.0612	10	0.87932	D	0	-20.8171	17.2881	0.87147	0.0:0.0:1.0:0.0	.	350	Q68DC2	ANKS6_HUMAN	E	49;350;350;155	ENSP00000364159:A49E;ENSP00000364158:A350E;ENSP00000297837:A350E;ENSP00000442189:A155E	ENSP00000297837:A350E	A	-	2	0	ANKS6	100586119	1.000000	0.71417	0.182000	0.23118	0.313000	0.28021	6.447000	0.73465	2.746000	0.94184	0.650000	0.86243	GCG			0.642	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000277053.1		NM_173551		T	101546298	G	T	101546298	3	4	36	1	0	0	0	0	1	0	0	0	692	1087	38	1	1614	1	ANKS6	9	101546298	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	24155309	101546298	39667133	30	2536											
SURF6	6838	bcgsc.ca	37	chr9	136198944	136198944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcgttcgtcgtcacGgatcttcacgccctccgcct	5	9	10	17	6	3	0	2	0	1	0	6	1	4	1	3	2	1	2	3	2	0	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr9:136198944G>T	ENST00000372022.4	-	5	1112	c.847C>A	c.(847-849)Cgt>Agt	p.R283S	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	283					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCGTCGTCACGGATCTTCACG	0.682																																					p.R283S													.	SURF6	32		0			c.C847A												64	59	61					9																	136198944		2203	4300	6503	SO:0001583	missense	6838	exon5			CGTCACGGATCTT	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.847C>A	9.37:g.136198944G>T	ENSP00000361092:p.Arg283Ser		50	0	0		44	0.09	4	NM_006753	126	0	0	Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161143	0.57368	.	.	ENSG00000148296	ENST00000372022	T	0.16073	2.37	5.15	4.22	0.49857	.	0.249082	0.37178	N	0.002209	T	0.35537	0.0935	M	0.73962	2.25	0.37006	D	0.895513	D	0.54397	0.966	P	0.58660	0.843	T	0.41963	-0.9479	10	0.56958	D	0.05	-12.5828	11.7322	0.51744	0.0:0.0:0.6682:0.3318	.	283	O75683	SURF6_HUMAN	S	283	ENSP00000361092:R283S	ENSP00000361092:R283S	R	-	1	0	SURF6	135188765	1.000000	0.71417	0.829000	0.32907	0.343000	0.28985	3.406000	0.52637	1.094000	0.41399	0.467000	0.42956	CGT			0.682	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054905.1		NM_006753		T	136198944	G	T	136198944	3	4	36	1	0	0	0	0	1	0	0	0	15429	1116	39	1	242	1	SURF6	9	136198944	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	34652646	136198944	5014487	31	2537											
C10orf128	170371	mdanderson.org	37	chr10	50374968	50374968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcgtcgtcaaataagtGcctcctgatcatgcagatct	11	11	9	10	2	3	3	2	1	1	2	6	3	4	3	2	0	2	1	2	0	2	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr10:50374968G>T	ENST00000474718.1	-	3	206	c.184C>A	c.(184-186)Cac>Aac	p.H62N	C10orf128_ENST00000374153.2_Missense_Mutation_p.H62N|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374148.1_Missense_Mutation_p.H62N|C10orf128_ENST00000374151.3_Missense_Mutation_p.H62N	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	62						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3						TCAAATAAGTGCCTCCTGATC	0.597																																					p.H62N													.	.			0			c.C184A												71	76	75					10																	50374968		2060	4201	6261	SO:0001583	missense	170371	exon3			ATAAGTGCCTCCT	BC031641	CCDS41519.1, CCDS73128.1	10q11.23	2012-06-13			ENSG00000204161	ENSG00000204161			27274	protein-coding gene	gene with protein product						12477932	Standard	NM_001010863		Approved	Em:AC084727.5	uc001jhn.4	Q5T292	OTTHUMG00000018188	ENST00000474718.1:c.184C>A	10.37:g.50374968G>T	ENSP00000417246:p.His62Asn		65	0	0		45	0.07	3	NM_001010863	32	0	0	A6XND2|Q5T289|Q5T291	Missense_Mutation	SNP	ENST00000474718.1	37	CCDS41519.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733318	0.30684	.	.	ENSG00000204161	ENST00000374153;ENST00000474718;ENST00000453436;ENST00000374149;ENST00000374151;ENST00000374148	T;T;T;T;T	0.60299	0.25;0.34;0.24;0.2;0.21	4.47	3.55	0.40652	.	0.485095	0.15466	N	0.260860	T	0.46386	0.1390	L	0.34521	1.04	0.09310	N	1	P;P;B;P	0.40332	0.713;0.713;0.297;0.551	B;B;B;B	0.39562	0.303;0.303;0.067;0.189	T	0.38607	-0.9653	10	0.72032	D	0.01	.	9.5492	0.39299	0.0:0.0:0.7901:0.2099	.	62;62;62;62	Q5T292-2;Q5T292-3;Q5T292;Q5T292-4	.;.;CJ128_HUMAN;.	N	62;62;54;56;62;62	ENSP00000363268:H62N;ENSP00000417246:H62N;ENSP00000395067:H54N;ENSP00000363266:H62N;ENSP00000363263:H62N	ENSP00000363263:H62N	H	-	1	0	C10orf128	50044974	0.823000	0.29233	0.185000	0.23176	0.074000	0.17049	1.872000	0.39549	1.073000	0.40885	-0.553000	0.04205	CAC			0.597	C10orf128-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047978.1		NM_001010863		T	50374968	G	T	50374968	3	4	36	1	0	0	0	0	1	0	0	0	1594	1319	46	2	149	2	C10orf128	10	50374968	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		50374968	85159779	32	2538											
MSMB	4477	mdanderson.org	37	chr10	51562390	51562390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctgttctgtcagtgaatGgataatctaatgtgcttcta	10	15	9	7	0	4	1	1	1	3	0	4	3	4	2	1	1	1	2	1	1	4	5			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr10:51562390G>T	ENST00000358559.2	+	4	422	c.335G>T	c.(334-336)tGg>tTg	p.W112L	NCOA4_ENST00000374087.4_5'Flank|NCOA4_ENST00000430396.2_5'Flank|NCOA4_ENST00000452682.1_5'Flank|NCOA4_ENST00000438493.1_5'Flank|MSMB_ENST00000298239.6_Nonsense_Mutation_p.G77*|NCOA4_ENST00000414907.2_5'Flank	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	112						extracellular space (GO:0005615)|nucleus (GO:0005634)				lung(4)|ovary(2)|prostate(1)	7						GTCAGTGAATGGATAATCTAA	0.458																																					p.G77X													.	.			0			c.G229T												160	135	144					10																	51562390		2203	4300	6503	SO:0001583	missense	4477	exon3			GTGAATGGATAAT	BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.335G>T	10.37:g.51562390G>T	ENSP00000351363:p.Trp112Leu		45	0	0		48	0.06	3	NM_138634	1	0	0	B1API6|P11999|Q13125|Q6IAY9|Q9UC59	Nonsense_Mutation	SNP	ENST00000358559.2	37	CCDS7235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.736|9.736	1.163472|1.163472	0.21538|0.21538	.|.	.|.	ENSG00000138294|ENSG00000138294	ENST00000298239|ENST00000358559	.|T	.|0.16457	.|2.34	4.33|4.33	2.34|2.34	0.29019|0.29019	.|.	.|0.868174	.|0.10276	.|N	.|0.694113	.|T	.|0.33673	.|0.0871	.|.	.|.	.|.	0.20638|0.20638	N|N	0.999872|0.999872	.|D	.|0.76494	.|0.999	.|D	.|0.70487	.|0.969	.|T	.|0.09907	.|-1.0653	.|9	0.87932|0.66056	D|D	0|0.02	-16.0319|-16.0319	5.3875|5.3875	0.16226|0.16226	0.1166:0.2017:0.6817:0.0|0.1166:0.2017:0.6817:0.0	.|.	.|112	.|P08118	.|MSMB_HUMAN	X|L	77|112	.|ENSP00000351363:W112L	ENSP00000298239:G77X|ENSP00000351363:W112L	G|W	+|+	1|2	0|0	MSMB|MSMB	51232396|51232396	0.050000|0.050000	0.20438|0.20438	0.008000|0.008000	0.14137|0.14137	0.005000|0.005000	0.04900|0.04900	0.921000|0.921000	0.28718|0.28718	0.684000|0.684000	0.31448|0.31448	0.650000|0.650000	0.86243|0.86243	GGA|TGG			0.458	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048034.1		NM_002443, NM_138634		T	51562390	G	T	51562390	3	4	36	1	0	0	0	0	1	0	0	0	9899	1358	47	3	349	3	MSMB	10	51562390	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	1187422	51562390	83972357	33	2539											
HHEX	3087	broad.mit.edu	37	chr10	94449787	94449787	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgggcgccgtgggggTgccgctgtacgcgcccacgc	2	4	20	15	8	0	0	0	0	0	0	0	0	0	0	3	5	2	2	3	5	1	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr10:94449787T>G	ENST00000282728.5	+	1	1843	c.44T>G	c.(43-45)gTg>gGg	p.V15G	HHEX_ENST00000472590.2_5'Flank|HHEX_ENST00000492654.2_5'Flank	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	15	Pro-rich.				anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						gccgTGGGGGTGCCGCTGTAC	0.786																																					p.V15G													.	HHEX	22		0			c.T44G																																									SO:0001583	missense	3087	exon1			TGGGGGTGCCGCT	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.44T>G	10.37:g.94449787T>G	ENSP00000282728:p.Val15Gly		40	0.325	13		44	0.66	29	NM_002729	4	0	0	B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415802	0.25552	.	.	ENSG00000152804	ENST00000282728	D	0.91996	-2.95	3.52	3.52	0.40303	.	0.000000	0.64402	D	0.000002	D	0.87402	0.6168	M	0.65975	2.015	0.80722	D	1	P	0.38195	0.622	B	0.30029	0.11	D	0.84882	0.0831	10	0.37606	T	0.19	.	7.7312	0.28788	0.0:0.105:0.0:0.895	.	15	Q03014	HHEX_HUMAN	G	15	ENSP00000282728:V15G	ENSP00000282728:V15G	V	+	2	0	HHEX	94439767	1.000000	0.71417	0.981000	0.43875	0.341000	0.28922	2.739000	0.47409	1.466000	0.48025	0.240000	0.17902	GTG			0.786	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049402.2				G	94449787	T	G	94449787	3	3	36	1	0	0	0	0	1	0	0	0	7106	1696	59	4	46	4	HHEX	10	94449787	Missense_Mutation	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10	42887397	94449787	41084960	34	2540											
MYOD1	4654	mdanderson.org	37	chr11	17741614	17741614	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgggccgctgcctactGtgggcctgcaaggcgtgcaa	6	6	16	13	3	0	0	0	0	0	0	0	0	0	0	3	4	4	3	3	4	3	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr11:17741614G>T	ENST00000250003.3	+	1	500	c.285G>T	c.(283-285)ctG>ctT	p.L95L		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	95					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GCTGCCTACTGTGGGCCTGCA	0.726																																					p.L95L													.	.			0			c.G285T												9	8	8					11																	17741614		2129	4130	6259	SO:0001819	synonymous_variant	4654	exon1			CCTACTGTGGGCC	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"Basic helix-loop-helix proteins"	7611	protein-coding gene	gene with protein product	"myoblast determination protein 1"	159970	"myogenic factor 3"	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.285G>T	11.37:g.17741614G>T			42	0	0		39	0.08	3	NM_002478	0		0	O75321	Silent	SNP	ENST00000250003.3	37	CCDS7826.1																																																																																					0.726	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389387.1		NM_002478		T	17741614	G	T	17741614	2	4	36	1	0	0	0	0	0	0	0	1	10104	1364	48	3		3	MYOD1	11	17741614	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		17741614	117264902	35	2541											
ANO3	63982	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	26547227	26547227	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagcaaatcaatgggcagGttggtgggtgatgaatcatt	12	10	15	4	0	2	2	2	2	0	0	2	3	2	3	0	5	1	3	0	5	3	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr11:26547227G>T	ENST00000256737.3	+	7	1589		c.e7+1		ANO3_ENST00000525139.1_Splice_Site|ANO3_ENST00000531568.1_Splice_Site|ANO3_ENST00000537978.1_Splice_Site	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3						calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAATGGGCAGGTTGGTGGGTG	0.343																																					.													.	ANO3	145		0			c.737+1G>T												140	157	151					11																	26547227		2203	4300	6503	SO:0001630	splice_region_variant	63982	exon7			GGGCAGGTTGGTG	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.737+1G>T	11.37:g.26547227G>T			182	0.0054945055	1		106	0.29	31	NM_031418	0		0	B7Z3F5	Splice_Site	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387906	0.82902	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531568	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8719	0.88813	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO3	26503803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.529000	0.90602	2.567000	0.86603	0.650000	0.86243	.			0.343	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000387806.1		NM_031418	Intron	T	26547227	G	T	26547227	5	4	36	1	0	0	0	0	0	0	1	0	698	1275	44	3	764	3	ANO3	11	26547227	Splice_Site	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	8805613	26547227	108459289	36	2542											
AMBRA1	55626	broad.mit.edu	37	chr11	46439570	46439570	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatgtctccgctggtcGgcaggcatgggataaaggac	9	8	14	10	2	1	1	0	1	1	0	3	3	1	3	1	5	0	3	1	5	2	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr11:46439570G>A	ENST00000458649.2	-	15	3427	c.3009C>T	c.(3007-3009)gcC>gcT	p.A1003A	AMBRA1_ENST00000314845.3_Silent_p.A913A|AMBRA1_ENST00000528950.1_Silent_p.A974A|AMBRA1_ENST00000298834.3_Silent_p.A943A|AMBRA1_ENST00000533727.1_Silent_p.A884A|AMBRA1_ENST00000534300.1_Silent_p.A943A|AMBRA1_ENST00000426438.1_Silent_p.A974A			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1003					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)		TCCGCTGGTCGGCAGGCATGG	0.483																																					p.A1006A													.	AMBRA1	201		0			c.C3018T												79	77	77					11																	46439570		2201	4299	6500	SO:0001819	synonymous_variant	55626	exon17			CTGGTCGGCAGGC	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.3009C>T	11.37:g.46439570G>A			92	0	0		87	0.03	3	NM_001267782	49	0	0	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37																																																																																						0.483	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000390103.1		NM_017749		A	46439570	G	A	46439570	2	1	36	1	0	0	0	0	0	0	0	1	565	1103	39	1		1	AMBRA1	11	46439570	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	19892343	46439570	88566946	37	2543											
OR10S1	219873	mdanderson.org	37	chr11	123848345	123848345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtggctcaccacagtctgGttggggttctccgttgtcat	6	13	12	10	1	4	0	2	0	2	0	5	0	4	0	2	4	0	4	2	4	1	3	rs201821946		TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr11:123848345G>T	ENST00000531945.1	-	1	143	c.54C>A	c.(52-54)aaC>aaA	p.N18K		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	18						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(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		CCACAGTCTGGTTGGGGTTCT	0.483																																					p.N18K													.	.			0			c.C54A												80	80	80					11																	123848345		2202	4299	6501	SO:0001583	missense	219873	exon1			AGTCTGGTTGGGG	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.54C>A	11.37:g.123848345G>T	ENSP00000431914:p.Asn18Lys		18	0	0		10	0.2	2	NM_001004474	0		0	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916250	0.33815	.	.	ENSG00000196248	ENST00000531945	T	0.02158	4.42	4.75	2.84	0.33178	.	0.000000	0.45606	U	0.000356	T	0.05273	0.0140	M	0.92219	3.285	0.26741	N	0.970384	B	0.27997	0.197	B	0.24269	0.052	T	0.24693	-1.0153	10	0.87932	D	0	-19.7471	4.3184	0.11003	0.2469:0.0:0.5892:0.164	.	18	Q8NGN2	O10S1_HUMAN	K	18	ENSP00000431914:N18K	ENSP00000431914:N18K	N	-	3	2	OR10S1	123353555	.	.	0.982000	0.44146	0.169000	0.22640	.	.	0.601000	0.29879	0.644000	0.83932	AAC			0.483	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387265.2		NM_001004474		T	123848345	G	T	123848345	3	4	36	1	0	0	0	0	1	0	0	0	10935	1252	44	3	945	3	OR10S1	11	123848345	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	77408775	123848345	11158171	38	2544											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343024	130343024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggttacaaagggctgatcGgggatgacaactacctggct	10	8	14	9	2	0	2	0	2	0	0	1	3	0	3	1	5	3	3	1	5	4	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr11:130343024G>T	ENST00000299164.2	+	8	2161	c.2161G>T	c.(2161-2163)Ggg>Tgg	p.G721W		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	721	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G721W(1)		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)		AGGGCTGATCGGGGATGACAA	0.622																																					p.G721W													ADAMTS15,NS,carcinoma,0,3	ADAMTS15	103	3	1	Substitution - Missense(1)	lung(1)	c.G2161T												65	66	66					11																	130343024		2201	4297	6498	SO:0001583	missense	170689	exon8			CTGATCGGGGATG	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.2161G>T	11.37:g.130343024G>T	ENSP00000299164:p.Gly721Trp		137	0	0		121	0.02	3	NM_139055	4	0	0	Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730713	0.69074	.	.	ENSG00000166106	ENST00000299164	T	0.60171	0.21	5.67	4.57	0.56435	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.60958	0.2309	L	0.36672	1.1	0.39541	D	0.968823	D	0.63046	0.992	D	0.66602	0.945	T	0.62863	-0.6764	9	0.59425	D	0.04	.	6.5758	0.22564	0.2543:0.0:0.7457:0.0	.	721	Q8TE58	ATS15_HUMAN	W	721	ENSP00000299164:G721W	ENSP00000299164:G721W	G	+	1	0	ADAMTS15	129848234	0.996000	0.38824	0.997000	0.53966	0.992000	0.81027	3.419000	0.52728	2.686000	0.91538	0.561000	0.74099	GGG			0.622	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385638.1		NM_139055		T	130343024	G	T	130343024	3	4	36	1	0	0	0	0	1	0	0	0	260	1116	39	1	2191	1	ADAMTS15	11	130343024	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	6494679	130343024	4663492	39	2545											
LPAR5	57121	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	6729744	6729744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccgccgctggctctgcGtggcgtcggggcgcgccagc	1	6	17	17	8	1	0	0	0	1	0	3	0	2	0	4	4	2	2	4	4	0	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr12:6729744G>T	ENST00000329858.4	-	2	1427	c.671C>A	c.(670-672)aCg>aAg	p.T224K	LPAR5_ENST00000431922.1_Missense_Mutation_p.T224K|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CTGGCTCTGCGTGGCGTCGGG	0.697																																					p.T224K	NSCLC(74;891 2312 37538)												.	.			0			c.C671A												6	5	5					12																	6729744		2057	3972	6029	SO:0001583	missense	57121	exon2			CTCTGCGTGGCGT	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.671C>A	12.37:g.6729744G>T	ENSP00000327875:p.Thr224Lys		58	0	0		108	0.1	11	NM_001142961	9	0	0		Missense_Mutation	SNP	ENST00000329858.4	37	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390036	0.61956	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.36520	1.25;1.25	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.288449	0.28933	N	0.013666	T	0.35278	0.0926	L	0.36672	1.1	0.35878	D	0.828764	D	0.60160	0.987	P	0.56700	0.804	T	0.24083	-1.0170	10	0.05833	T	0.94	.	9.3852	0.38338	0.157:0.0:0.843:0.0	.	224	Q9H1C0	LPAR5_HUMAN	K	224	ENSP00000327875:T224K;ENSP00000393098:T224K	ENSP00000327875:T224K	T	-	2	0	LPAR5	6600005	0.994000	0.37717	0.982000	0.44146	0.896000	0.52359	2.892000	0.48625	2.652000	0.90054	0.561000	0.74099	ACG			0.697	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400699.1		NM_020400		T	6729744	G	T	6729744	3	4	36	1	0	0	0	0	1	0	0	0	8924	1145	40	1	451	1	LPAR5	12	6729744	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		6729744	127122151	40	2546											
ADAMTS20	80070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	43771347	43771347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcctttgtctgtaactaaAtccacagttgtttgcacact	11	15	5	10	0	1	0	0	0	1	0	3	0	3	0	2	0	2	4	2	0	4	5			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr12:43771347A>G	ENST00000389420.3	-	32	4815	c.4816T>C	c.(4816-4818)Ttt>Ctt	p.F1606L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1606	TSP type-1 14. {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)		CTGTAACTAAATCCACAGTTG	0.348																																					p.F1606L													.	.			0			c.T4816C												85	84	84					12																	43771347		2203	4300	6503	SO:0001583	missense	80070	exon32			AACTAAATCCACA	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.4816T>C	12.37:g.43771347A>G	ENSP00000374071:p.Phe1606Leu		183	0	0		133	0.17	23	NM_025003	0		0	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	5.340	0.247982	0.10130	.	.	ENSG00000173157	ENST00000389420	T	0.57273	0.41	5.08	2.63	0.31362	.	0.249386	0.28301	N	0.015844	T	0.30696	0.0773	N	0.17082	0.46	0.19575	N	0.999966	B	0.02656	0.0	B	0.04013	0.001	T	0.17592	-1.0364	10	0.11182	T	0.66	.	9.7489	0.40464	0.7316:0.0:0.2684:0.0	.	1606	P59510	ATS20_HUMAN	L	1606	ENSP00000374071:F1606L	ENSP00000374071:F1606L	F	-	1	0	ADAMTS20	42057614	0.060000	0.20803	0.487000	0.27428	0.861000	0.49209	0.025000	0.13577	0.431000	0.26258	0.533000	0.62120	TTT			0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403643.1		NM_025003		G	43771347	A	G	43771347	3	3	36	1	0	0	0	0	1	0	0	0	266	101	4	4	947	4	ADAMTS20	12	43771347	Missense_Mutation	SNP	A	TCGA-2G-AAGP-01A-11D-A42Y-10	37041603	43771347	90080548	41	2547											
C13orf23	80209	mdanderson.org	37	chr13	39588565	39588565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgcagcaggtgttgaaGgattagaaccatgaggagaa	14	8	15	4	0	0	4	0	2	0	2	0	7	0	5	1	3	3	4	1	3	4	3	rs141612774	byFrequency	TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr13:39588565G>T	ENST00000352251.3	-	11	1657	c.824C>A	c.(823-825)cCt>cAt	p.P275H	PROSER1_ENST00000350125.3_Missense_Mutation_p.P253H|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	275	Pro-rich.																AGGTGTTGAAGGATTAGAACC	0.463																																					p.P275H													.	.			0			c.C824A												85	76	79					13																	39588565		2203	4300	6503	SO:0001583	missense	80209	exon11			GTTGAAGGATTAG	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.824C>A	13.37:g.39588565G>T	ENSP00000332034:p.Pro275His		65	0	0		42	0.07	3	NM_025138	52	0	0	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571366	0.65765	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.35048	1.34;1.33	5.09	4.21	0.49690	.	.	.	.	.	T	0.54046	0.1834	M	0.61703	1.905	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;D	0.67548	0.952;0.952	T	0.53287	-0.8460	8	.	.	.	-21.4525	13.5708	0.61845	0.0:0.0:0.8432:0.1568	.	253;275	A6NJ97;Q86XN7	.;PRSR1_HUMAN	H	275;253	ENSP00000332034:P275H;ENSP00000339123:P253H	.	P	-	2	0	PROSER1	38486565	1.000000	0.71417	0.349000	0.25694	0.944000	0.59088	6.876000	0.75556	1.063000	0.40649	0.650000	0.86243	CCT			0.463	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044607.5		NM_025138		T	39588565	G	T	39588565	3	4	36	1	0	0	0	0	1	0	0	0	1723	1000	35	3	2022	3	C13orf23	13	39588565	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		39588565	75581313	42	2548											
DZIP1	22873	mdanderson.org	37	chr13	96239894	96239894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaagctgcccttgttttgtGgtggcggcacaggaagtggg	6	10	17	8	2	0	0	0	0	0	0	0	2	0	1	1	5	2	3	1	5	2	3			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr13:96239894G>T	ENST00000376829.2	-	20	2968	c.2117C>A	c.(2116-2118)cCa>cAa	p.P706Q	DZIP1_ENST00000347108.3_Missense_Mutation_p.P706Q|DZIP1_ENST00000361156.3_Missense_Mutation_p.P687Q|DZIP1_ENST00000361396.2_Missense_Mutation_p.P687Q	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	706					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P687Q(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTTGTTTTGTGGTGGCGGCAC	0.577																																					p.P706Q													DZIP1_ENST00000347108,NS,carcinoma,0,3	DZIP1_ENST00000347108	0	3	1	Substitution - Missense(1)	pancreas(1)	c.C2117A												132	110	117					13																	96239894		2203	4300	6503	SO:0001583	missense	22873	exon20			TTTTGTGGTGGCG	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2117C>A	13.37:g.96239894G>T	ENSP00000366025:p.Pro706Gln		156	0	0		119	0.04	5	NM_198968	36	0	0	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	4.276	0.050312	0.08243	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.35	4.51	0.55191	.	0.387393	0.29239	N	0.012740	T	0.11750	0.0286	N	0.02011	-0.69	0.09310	N	1	B;B	0.20988	0.05;0.029	B;B	0.21708	0.036;0.016	T	0.24835	-1.0149	10	0.21014	T	0.42	-0.3812	9.5113	0.39078	0.174:0.0:0.826:0.0	.	687;706	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	Q	706;687;687;706	ENSP00000257312:P706Q;ENSP00000355018:P687Q;ENSP00000355175:P687Q;ENSP00000366025:P706Q	ENSP00000257312:P706Q	P	-	2	0	DZIP1	95037895	0.003000	0.15002	0.001000	0.08648	0.000000	0.00434	1.256000	0.32921	1.260000	0.44134	-0.126000	0.14955	CCA			0.577	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045496.3		NM_014934		T	96239894	G	T	96239894	3	4	36	1	0	0	0	0	1	0	0	0	4868	1348	47	3	502	3	DZIP1	13	96239894	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	56651329	96239894	18929984	43	2549											
ARID4A	5926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	58832861	58832861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctcctgcaagaatatccCcgcacatcaaagatggagag	14	7	9	11	1	2	3	1	0	1	3	4	5	3	3	3	1	1	2	3	1	4	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr14:58832861C>G	ENST00000355431.3	+	22	3809	c.3436C>G	c.(3436-3438)Ccg>Gcg	p.P1146A	ARID4A_ENST00000395168.3_Intron|ARID4A_ENST00000348476.3_Intron|ARID4A_ENST00000431317.2_Intron	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1146					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGAATATCCCCGCACATCAA	0.398																																					p.P1146A													ARID4A_ENST00000355431,NS,carcinoma,-2,2	ARID4A_ENST00000355431	-2	2	0			c.C3436G												166	176	173					14																	58832861		2203	4300	6503	SO:0001583	missense	5926	exon22			ATATCCCCGCACA	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3436C>G	14.37:g.58832861C>G	ENSP00000347602:p.Pro1146Ala		172	0	0		152	0.2	31	NM_002892	28	0.29	8	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031170	0.75504	.	.	ENSG00000032219	ENST00000355431	T	0.15952	2.38	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000011	T	0.41558	0.1164	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.07947	-1.0746	10	0.34782	T	0.22	-14.2313	18.9177	0.92512	0.0:1.0:0.0:0.0	.	1146	P29374	ARI4A_HUMAN	A	1146	ENSP00000347602:P1146A	ENSP00000347602:P1146A	P	+	1	0	ARID4A	57902614	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.954000	0.63631	2.544000	0.85801	0.650000	0.86243	CCG			0.398	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276927.2		NM_023001		G	58832861	C	G	58832861	3	3	36	1	0	0	0	0	1	0	0	0	919	623	22	5	3518	5	ARID4A	14	58832861	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10		58832861	48516679	44	2550											
EIF3J	8669	broad.mit.edu	37	chr15	44829571	44829571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggaaggtggggggcggCggcactgccggcggggaccg	4	3	24	10	6	0	0	0	0	0	0	0	2	0	2	2	10	2	1	2	10	1	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr15:44829571C>T	ENST00000535391.1	+	2	105	c.93C>T	c.(91-93)ggC>ggT	p.G31G	EIF3J_ENST00000424492.3_Silent_p.G31G|EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000261868.5_Silent_p.G31G					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TGGGGGGCGGCGGCACTGCCG	0.726																																					p.G31G													.	EIF3J	29		0			c.C93T												6	7	7					15																	44829571		2085	4088	6173	SO:0001819	synonymous_variant	8669	exon2			GGGCGGCGGCACT	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.93C>T	15.37:g.44829571C>T			78	0	0		74	0.04	3	NM_003758	40	0	0		Silent	SNP	ENST00000535391.1	37																																																																																						0.726	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000396804.1		NM_003758		T	44829571	C	T	44829571	2	4	36	1	0	0	0	0	0	0	0	1	5027	755	27	1		1	EIF3J	15	44829571	Silent	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10		44829571	57701821	45	2551											
SPG11	80208	mdanderson.org	37	chr15	44955776	44955776	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcatcggtagaacccGccccatggccgcggtgcccc	8	4	11	18	4	0	1	0	0	0	1	1	1	0	1	6	3	4	2	6	3	3	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr15:44955776G>T	ENST00000261866.7	-	1	86	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	SPG11_ENST00000535302.2_Silent_p.R24R|SPG11_ENST00000558319.1_Silent_p.R24R|SPG11_ENST00000427534.2_Silent_p.R24R|SPG11_ENST00000559193.1_Silent_p.R24R	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	24					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGTAGAACCCGCCCCATGGCC	0.706																																					p.R24R													.	.			0			c.C70A												6	8	8					15																	44955776		2083	4147	6230	SO:0001819	synonymous_variant	80208	exon1			GAACCCGCCCCAT		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.70C>A	15.37:g.44955776G>T			33	0	0		23	0.09	2	NM_025137	4	0	0	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																					0.706	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253927.1				T	44955776	G	T	44955776	2	4	36	1	0	0	0	0	0	0	0	1	15064	1086	38	1		1	SPG11	15	44955776	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	126205	44955776	57575616	46	2552											
RASGRF1	5923	mdanderson.org	37	chr15	79382584	79382584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtttctccagcggctccTtggccgacagcgccggcttg	3	10	12	16	4	1	0	0	0	1	0	3	1	2	0	5	3	2	3	5	3	0	3			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr15:79382584T>C	ENST00000419573.3	-	1	531	c.257A>G	c.(256-258)aAg>aGg	p.K86R	RASGRF1_ENST00000558480.2_Missense_Mutation_p.K86R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	86	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGCGGCTCCTTGGCCGACAG	0.726																																					p.K86R													.	.			0			c.A257G												12	14	13					15																	79382584		2186	4270	6456	SO:0001583	missense	5923	exon1			GGCTCCTTGGCCG	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.257A>G	15.37:g.79382584T>C	ENSP00000405963:p.Lys86Arg		42	0	0		26	0.08	2	NM_002891	0		0	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681726	0.29872	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.12147	2.71	3.69	3.69	0.42338	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.767440	0.03047	N	0.154081	T	0.16342	0.0393	L	0.51914	1.62	0.80722	D	1	B;B;B	0.17038	0.02;0.003;0.004	B;B;B	0.17433	0.018;0.008;0.006	T	0.33803	-0.9854	10	0.13470	T	0.59	.	10.3585	0.43977	0.0:0.0:0.0:1.0	.	86;86;86	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	R	86	ENSP00000405963:K86R	ENSP00000378224:K86R	K	-	2	0	RASGRF1	77169639	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.068000	0.41471	1.548000	0.49413	0.260000	0.18958	AAG			0.726	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000291371.3		NM_002891		C	79382584	T	C	79382584	3	2	36	1	0	0	0	0	1	0	0	0	13095	1609	56	4	3676	4	RASGRF1	15	79382584	Missense_Mutation	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10	34426808	79382584	23148808	47	2553											
LRRK1	79705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	101555582	101555582	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttttcaccaccagaggTcgccagcgctccgggactga	7	8	11	15	3	1	2	1	1	0	1	3	3	2	3	5	2	1	1	5	2	0	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr15:101555582T>A	ENST00000388948.3	+	12	1943	c.1584T>A	c.(1582-1584)ggT>ggA	p.G528G	LRRK1_ENST00000284395.5_Silent_p.G525G	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACCAGAGGTCGCCAGCGCT	0.547											OREG0011796|OREG0023522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																									p.G528G													.	.			0			c.T1584A												54	57	56					15																	101555582		2076	4217	6293	SO:0001819	synonymous_variant	79705	exon12			CAGAGGTCGCCAG	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1584T>A	15.37:g.101555582T>A			107	0	0	1359	83	0.24	20	NM_024652	9	0.22	2		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																					0.547	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384567.2		NM_024652		A	101555582	T	A	101555582	2	1	36	1	0	0	0	0	0	0	0	1	9048	1654	58	5		5	LRRK1	15	101555582	Silent	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10	22172998	101555582	975810	48	2554											
HN1L	90861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1748931	1748931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatgagccccggctggggCcgcggcctcgctctcacaac	5	5	13	18	4	1	1	1	1	1	0	3	1	1	1	5	4	2	2	5	4	1	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr16:1748931C>G	ENST00000248098.3	+	5	562	c.505C>G	c.(505-507)Ccg>Gcg	p.P169A	HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000562684.1_Missense_Mutation_p.P197A|HN1L_ENST00000382710.4_Missense_Mutation_p.P157A|HN1L_ENST00000382711.5_Missense_Mutation_p.P153A|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_3'UTR	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	169						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						CCGGCTGGGGCCGCGGCCTCG	0.637																																					p.P169A													HN1L,NS,carcinoma,-1,1	HN1L	-1	1	0			c.C505G												56	69	65					16																	1748931		2199	4300	6499	SO:0001583	missense	90861	exon5			CTGGGGCCGCGGC	AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 34"	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.505C>G	16.37:g.1748931C>G	ENSP00000248098:p.Pro169Ala		55	0	0		61	0.13	8	NM_144570	145	0.31	45	B1AJY2|Q6EIC7	Missense_Mutation	SNP	ENST00000248098.3	37	CCDS10441.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938660	0.73557	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000382710	.	.	.	6.17	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.79752	-0.1671	9	0.66056	D	0.02	-25.454	13.9833	0.64317	0.0:0.9285:0.0:0.0715	.	157;197;169	A6NGP5;B4DLH4;Q9H910	.;.;HN1L_HUMAN	A	169;197;157	.	ENSP00000248098:P169A	P	+	1	0	HN1L	1688932	0.999000	0.42202	0.991000	0.47740	0.289000	0.27227	4.995000	0.63908	2.941000	0.99782	0.655000	0.94253	CCG			0.637	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109086.2		NM_144570		G	1748931	C	G	1748931	3	3	36	1	0	0	0	0	1	0	0	0	7265	739	26	5	523	5	HN1L	16	1748931	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10		1748931	88605822	49	2555											
TBL3	10607	mdanderson.org	37	chr16	2027606	2027606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacaaggtctgggggctgCactgcagccggctggacgac	8	5	17	11	2	1	0	0	0	1	0	1	3	1	2	1	6	3	4	1	6	1	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr16:2027606C>T	ENST00000568546.1	+	17	1962	c.1834C>T	c.(1834-1836)Cac>Tac	p.H612Y		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	612					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CTGGGGGCTGCACTGCAGCCG	0.642																																					p.H612Y	Melanoma(118;616 1651 35077 38081 48633)												.	.			0			c.C1834T												37	31	33					16																	2027606		2181	4287	6468	SO:0001583	missense	10607	exon17			GGGCTGCACTGCA	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1834C>T	16.37:g.2027606C>T	ENSP00000454836:p.His612Tyr		70	0	0		70	0.06	4	NM_006453	137	0	0	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284039	0.59867	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.54	5.54	0.83059	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	0.75860	0.3907	L	0.53249	1.67	0.58432	D	0.999998	D;D	0.76494	0.97;0.999	P;D	0.68621	0.884;0.959	T	0.77308	-0.2636	9	0.72032	D	0.01	-30.5371	18.4479	0.90691	0.0:1.0:0.0:0.0	.	374;612	A0JLS5;Q12788	.;TBL3_HUMAN	Y	612	.	ENSP00000331815:H612Y	H	+	1	0	TBL3	1967607	1.000000	0.71417	0.987000	0.45799	0.814000	0.46013	5.814000	0.69208	2.601000	0.87937	0.561000	0.74099	CAC			0.642	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250615.3		NM_006453		T	2027606	C	T	2027606	3	4	36	1	0	0	0	0	1	0	0	0	15666	710	25	2	1900	2	TBL3	16	2027606	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	278675	2027606	88327147	50	2556											
CREBBP	1387	mdanderson.org	37	chr16	3777828	3777828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcagctgggggagcattGcactctgttcggggttcccc	4	12	14	11	1	2	0	1	0	1	0	4	1	3	1	2	4	3	6	2	4	0	4			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr16:3777828G>A	ENST00000262367.5	-	31	8029	c.7220C>T	c.(7219-7221)gCa>gTa	p.A2407V	CREBBP_ENST00000382070.3_Missense_Mutation_p.A2369V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2407					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)		GGGGAGCATTGCACTCTGTTC	0.632			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.A2407V				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.			0			c.C7220T												88	85	86					16																	3777828		2197	4300	6497	SO:0001583	missense	1387	exon31			AGCATTGCACTCT	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.7220C>T	16.37:g.3777828G>A	ENSP00000262367:p.Ala2407Val		79	0	0		70	0.07	5	NM_004380	222	0	0	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	14.43	2.534340	0.45073	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.87256	-2.23;-2.15	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92515	0.7623	M	0.64997	1.995	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72625	0.978;0.978	D	0.92764	0.6226	10	0.66056	D	0.02	-13.4771	18.4232	0.90598	0.0:0.0:1.0:0.0	.	2437;2407	Q4LE28;Q92793	.;CBP_HUMAN	V	2407;2437;2369;942	ENSP00000262367:A2407V;ENSP00000371502:A2369V	ENSP00000262367:A2407V	A	-	2	0	CREBBP	3717829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.705000	0.98719	2.668000	0.90789	0.655000	0.94253	GCA			0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251591.2		NM_004380		A	3777828	G	A	3777828	3	1	36	1	0	0	0	0	1	0	0	0	3863	1319	46	2	112	2	CREBBP	16	3777828	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	1750222	3777828	86576925	51	2557											
SEPHS2	22928	mdanderson.org	37	chr16	30456664	30456664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccagtgacaggccccCgtgcctcagggggatgacgc	7	5	14	15	2	1	2	1	2	0	0	1	3	1	3	4	3	2	1	4	3	0	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr16:30456664C>A	ENST00000478753.2	-	1	838	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	SEPHS2_ENST00000500504.2_Missense_Mutation_p.G129W|SEPHS2_ENST00000542752.1_Missense_Mutation_p.G72W			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	129					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GACAGGCCCCCGTGCCTCAGG	0.647																																					.	Esophageal Squamous(81;1142 1261 11202 24614 35697)												.	.			0			.												31	32	32					16																	30456664		1940	4119	6059	SO:0001583	missense	22928	.			GGCCCCCGTGCCT	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.385G>T	16.37:g.30456664C>A	ENSP00000418669:p.Gly129Trp		44	0	0		38	0.08	3	.	134	0	0	Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	C	20.8	4.056099	0.76074	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.30448	1.53;1.53;1.53	5.64	5.64	0.86602	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.051580	0.85682	D	0.000000	T	0.62672	0.2447	M	0.92317	3.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.967	T	0.69847	-0.5034	10	0.87932	D	0	-20.7385	10.9452	0.47296	0.0:0.9149:0.0:0.0851	.	129;72	Q99611;F5H8F9	SPS2_HUMAN;.	W	129;72;80;129	ENSP00000418669:G129W;ENSP00000443601:G72W;ENSP00000426234:G129W	ENSP00000390233:G80W	G	-	1	0	SEPHS2	30364165	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.690000	0.68241	2.828000	0.97474	0.655000	0.94253	GGG			0.647	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding		OTTHUMT00000109640.11		NM_012248		A	30456664	C	A	30456664	3	1	36	1	0	0	0	0	1	0	0	0	14078	652	23	1	965	1	SEPHS2	16	30456664	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	26678836	30456664	59898089	52	2558											
MYST1	84148	mdanderson.org	37	chr16	31142271	31142271	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggtgggggagtgtcagtatAtggactggtaggagtcaagg	9	9	19	4	1	2	0	2	0	0	0	2	3	2	3	0	7	0	2	0	7	4	3	rs17855606	byFrequency	TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr16:31142271A>T	ENST00000543774.2	+	11	1647				KAT8_ENST00000448516.2_Silent_p.I454I|RP11-388M20.2_ENST00000563605.1_RNA|KAT8_ENST00000219797.4_Intron			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8						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)										GTGTCAGTATATGGACTGGTA	0.587																																					p.I454I													.	.			0			c.A1362T												7	8	7					16																	31142271		2125	4211	6336	SO:0001627	intron_variant	84148	exon10			CAGTATATGGACT	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.1312+50A>T	16.37:g.31142271A>T			29	0	0		32	0.09	3	NM_182958	1	0	0	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	CCDS10706.1																																																																																					0.587	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000255546.3		NM_032188		T	31142271	A	T	31142271	1	4	36	0	1	0	0	0	0	0	0	0	10118	439	16	5		5	MYST1	16	31142271	Intron	SNP	A	TCGA-2G-AAGP-01A-11D-A42Y-10	685607	31142271	59212482	53	2559											
FTSJD1	55783	ucsc.edu	37	chr16	71317853	71317853	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtggagtacaaagatcaaAccagccataaatcttgtgaa	16	9	8	8	0	2	2	1	1	1	1	2	3	2	3	2	1	3	1	2	1	6	3	rs200001480	byFrequency	TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr16:71317853A>C	ENST00000338099.5	-	3	2307	c.1971T>G	c.(1969-1971)ggT>ggG	p.G657G	CMTR2_ENST00000434935.2_Silent_p.G657G			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	657					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										CAAAGATCAAACCAGCCATAA	0.423																																					p.G657G													.	FTSJD1	70		0			c.T1971G												86	90	89					16																	71317853		2198	4299	6497	SO:0001819	synonymous_variant	0	exon3			GATCAAACCAGCC	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1971T>G	16.37:g.71317853A>C			95	0.0631578947	6		69	0.06	4	NM_018348	39	0.13	5	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Silent	SNP	ENST00000338099.5	37	CCDS10898.1																																																																																					0.423	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268984.2		NM_018348		C	71317853	A	C	71317853	2	2	36	1	0	0	0	0	0	0	0	1	6103	30	2	4		4	FTSJD1	16	71317853	Silent	SNP	A	TCGA-2G-AAGP-01A-11D-A42Y-10	40175582	71317853	19036900	54	2560											
ZFPM1	161882	ucsc.edu;bcgsc.ca	37	chr16	88552419	88552419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatggagcaaaaggccaCggcacctgaagccccgagcc	12	2	11	16	2	0	1	0	1	0	0	0	3	0	2	6	3	3	2	6	3	3	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr16:88552419C>T	ENST00000319555.3	+	2	435	c.113C>T	c.(112-114)aCg>aTg	p.T38M	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	38					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)		CAAAAGGCCACGGCACCTGAA	0.652																																					p.T38M	Pancreas(49;850 1106 29641 32847 38344)												.	ZFPM1	32		0			c.C113T												60	55	57					16																	88552419		2194	4298	6492	SO:0001583	missense	161882	exon2			AGGCCACGGCACC	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.113C>T	16.37:g.88552419C>T	ENSP00000326630:p.Thr38Met		61	0	0		38	0.11	4	NM_153813	26	0	0		Missense_Mutation	SNP	ENST00000319555.3	37	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	c	8.640	0.895758	0.17686	.	.	ENSG00000179588	ENST00000319555	T	0.08008	3.14	3.77	-1.15	0.09709	.	12.568400	0.01061	U	0.004643	T	0.04588	0.0125	N	0.12182	0.205	0.09310	N	1	B	0.26081	0.141	B	0.14578	0.011	T	0.32481	-0.9905	10	0.42905	T	0.14	1.0124	1.8452	0.03158	0.16:0.4852:0.1566:0.1982	.	38	Q8IX07	FOG1_HUMAN	M	38	ENSP00000326630:T38M	ENSP00000326630:T38M	T	+	2	0	ZFPM1	87079920	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.700000	0.05081	0.025000	0.15241	-1.740000	0.00687	ACG			0.652	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422270.2				T	88552419	C	T	88552419	3	4	36	1	0	0	0	0	1	0	0	0	17680	536	19	1	119	1	ZFPM1	16	88552419	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	17234566	88552419	1802334	55	2561											
CDK10	8558	mdanderson.org	37	chr16	89761464	89761464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacttcctgttcatgtaCgaccctaagaaaaggtgctg	10	11	9	11	1	1	1	1	0	0	1	2	2	2	1	2	1	3	4	2	1	4	4			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr16:89761464C>T	ENST00000353379.7	+	11	961	c.918C>T	c.(916-918)taC>taT	p.Y306Y	CDK10_ENST00000331006.8_Silent_p.Y259Y|CDK10_ENST00000505473.1_Silent_p.Y235Y	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGTTCATGTACGACCCTAAGA	0.617																																					p.Y306Y													.	.			0			c.C918T												40	44	43					16																	89761464		2198	4300	6498	SO:0001819	synonymous_variant	8558	exon11			CATGTACGACCCT	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.918C>T	16.37:g.89761464C>T			46	0	0		56	0.05	3	NM_052988	92	0	0	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	ENST00000353379.7	37	CCDS10984.2																																																																																					0.617	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269925.2				T	89761464	C	T	89761464	2	4	36	1	0	0	0	0	0	0	0	1	3127	547	19	1		1	CDK10	16	89761464	Silent	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	1209045	89761464	593289	56	2562											
SRCIN1	80725	mdanderson.org	37	chr17	36705442	36705442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtatcggggcacggtcaaCtcatctgcaggcaccaaggg	9	6	14	12	3	3	0	2	0	1	0	4	0	3	0	1	6	2	4	1	6	3	1	rs372264724		TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr17:36705442C>A	ENST00000264659.7	-	16	3191	c.2967G>T	c.(2965-2967)gaG>gaT	p.E989D	SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1023D|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	861					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCACGGTCAACTCATCTGCAG	0.627																																					p.E989D													.	.			0			c.G2967T												13	15	14					17																	36705442		1995	4140	6135	SO:0001583	missense	80725	exon16			GGTCAACTCATCT		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2967G>T	17.37:g.36705442C>A	ENSP00000264659:p.Glu989Asp		35	0	0		27	0.11	3	NM_025248	7	0	0	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506784	0.44558	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.58060	0.36	5.29	2.24	0.28232	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	L	0.34521	1.04	0.42919	D	0.994288	B;B;B	0.23442	0.085;0.085;0.085	B;B;B	0.30943	0.074;0.122;0.074	T	0.10730	-1.0617	10	0.23891	T	0.37	-33.3281	9.5426	0.39262	0.0:0.7777:0.0:0.2223	.	861;861;989	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	D	989;770;843	ENSP00000264659:E989D	ENSP00000264659:E989D	E	-	3	2	SRCIN1	33958968	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.087000	0.30865	0.241000	0.21283	0.555000	0.69702	GAG			0.627	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000441878.4		NM_025248		A	36705442	C	A	36705442	3	1	36	1	0	0	0	0	1	0	0	0	15159	564	20	3	600	3	SRCIN1	17	36705442	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10		36705442	44489768	57	2563											
PYY	5697	broad.mit.edu	37	chr17	42030831	42030831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggtcaaggcgggccaCggcctgcgcacgaacaccat	9	5	13	14	4	1	0	1	0	0	0	1	1	1	0	3	4	2	1	3	4	2	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr17:42030831C>T	ENST00000360085.2	-	5	561	c.21G>A	c.(19-21)ccG>ccA	p.P7P	PYY_ENST00000592796.1_Silent_p.P7P	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	7					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCGGGCCACGGCCTGCGCA	0.687																																					p.P7P													.	PYY	11		0			c.G21A												27	24	25					17																	42030831		2201	4299	6500	SO:0001819	synonymous_variant	5697	exon5			GGGCCACGGCCTG		CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"Endogenous ligands"	9748	protein-coding gene	gene with protein product	"prepro-PYY"	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.21G>A	17.37:g.42030831C>T			136	0	0		152	0.04	6	NM_004160	37	0	0	Q5U5Q6|Q6FGH8	Silent	SNP	ENST00000360085.2	37	CCDS32662.1																																																																																					0.687	PYY-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000457658.1		NM_004160		T	42030831	C	T	42030831	2	4	36	1	0	0	0	0	0	0	0	1	12891	523	19	1		1	PYY	17	42030831	Silent	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	5325389	42030831	39164379	58	2564											
MRC2	9902	mdanderson.org	37	chr17	60742301	60742301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggaggacctatgtgctctgCcctaccacggtgaggggccg	7	7	15	12	2	1	1	0	1	1	0	1	3	1	3	4	5	3	1	4	5	2	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr17:60742301C>T	ENST00000303375.5	+	2	913	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	171					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ATGTGCTCTGCCCTACCACGG	0.642																																					p.P171S													.	.			0			c.C511T												33	35	34					17																	60742301		2203	4300	6503	SO:0001583	missense	9902	exon2			GCTCTGCCCTACC	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.511C>T	17.37:g.60742301C>T	ENSP00000307513:p.Pro171Ser		27	0	0		21	0.1	2	NM_006039	101	0	0	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	6.215	0.407824	0.11754	.	.	ENSG00000011028	ENST00000303375	T	0.31247	1.5	5.23	5.23	0.72850	Ricin B-related lectin (1);Fibronectin, type II, collagen-binding (1);Kringle-like fold (1);	0.315846	0.34700	N	0.003756	T	0.32102	0.0818	L	0.61218	1.895	0.80722	D	1	B	0.32245	0.361	B	0.26416	0.069	T	0.09796	-1.0658	10	0.21014	T	0.42	-25.7187	18.8087	0.92048	0.0:1.0:0.0:0.0	.	171	Q9UBG0	MRC2_HUMAN	S	171	ENSP00000307513:P171S	ENSP00000307513:P171S	P	+	1	0	MRC2	58096033	0.998000	0.40836	1.000000	0.80357	0.458000	0.32498	2.039000	0.41193	2.450000	0.82876	0.561000	0.74099	CCC			0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445152.1				T	60742301	C	T	60742301	3	4	36	1	0	0	0	0	1	0	0	0	9774	739	26	2	517	2	MRC2	17	60742301	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	18711470	60742301	20452909	59	2565											
LAMA1	284217	broad.mit.edu	37	chr18	7023227	7023227	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacctttcacagtgggcGccatctgtgttccccaggca	7	9	10	15	1	2	0	1	0	1	0	3	0	3	0	4	2	0	3	4	2	0	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr18:7023227G>T	ENST00000389658.3	-	19	2730	c.2637C>A	c.(2635-2637)ggC>ggA	p.G879G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	879	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACAGTGGGCGCCATCTGTGT	0.607																																					p.G879G													.	LAMA1	458		0			c.C2637A												93	70	78					18																	7023227		2203	4300	6503	SO:0001819	synonymous_variant	284217	exon19			GTGGGCGCCATCT	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2637C>A	18.37:g.7023227G>T			99	0	0		104	0.04	4	NM_005559	15	0	0		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																					0.607	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257369.1		NM_005559		T	7023227	G	T	7023227	2	4	36	1	0	0	0	0	0	0	0	1	8620	1074	38	1		1	LAMA1	18	7023227	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		7023227	71054021	60	2566											
KATNAL2	83473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	44584611	44584611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccctcccttaggatgaTgaacgacagttgtcaaaatc	11	12	8	10	1	1	2	1	2	0	0	4	4	3	3	2	1	1	2	2	1	4	3			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr18:44584611T>C	ENST00000245121.5	+	4	316	c.122T>C	c.(121-123)aTg>aCg	p.M41T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.M113T	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CTTAGGATGATGAACGACAGT	0.423																																					p.M41T													.	.			0			c.T122C												81	84	83					18																	44584611		2203	4300	6503	SO:0001583	missense	83473	exon4			GGATGATGAACGA	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"ATPases / AAA-type"	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.122T>C	18.37:g.44584611T>C	ENSP00000245121:p.Met41Thr		103	0	0		81	0.16	13	NM_031303	3	0.67	2		Missense_Mutation	SNP	ENST00000245121.5	37	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	T	1.526	-0.545711	0.04024	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.92805	-3.11;-3.1	5.22	-1.81	0.07882	.	0.882371	0.10147	N	0.710145	T	0.81992	0.4940	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64863	-0.6307	10	0.12430	T	0.62	-7.4723	7.0572	0.25106	0.0:0.4763:0.1458:0.3779	.	113	Q8IYT4	KATL2_HUMAN	T	113;41	ENSP00000348478:M113T;ENSP00000245121:M41T	ENSP00000245121:M41T	M	+	2	0	KATNAL2	42838609	0.755000	0.28372	0.000000	0.03702	0.760000	0.43138	-0.129000	0.10515	-0.539000	0.06273	0.379000	0.24179	ATG			0.423	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446138.2		NM_031303		C	44584611	T	C	44584611	3	2	36	1	0	0	0	0	1	0	0	0	8001	1464	51	4	132	4	KATNAL2	18	44584611	Missense_Mutation	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10	37561384	44584611	33492637	61	2567											
APC2	10297	mdanderson.org	37	chr19	1470177	1470177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactcggccgcggagaaaGccccggccactgcctccgcc	6	3	12	20	6	0	1	0	0	0	1	2	3	1	1	8	3	2	0	8	3	1	0			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr19:1470177G>T	ENST00000535453.1	+	14	8590	c.6877G>T	c.(6877-6879)Gcc>Tcc	p.A2293S	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.A2293S|APC2_ENST00000238483.4_Missense_Mutation_p.A2019S			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		CGCGGAGAAAGCCCCGGCCAC	0.716																																					p.A2293S													.	.			0			c.G6877T												5	6	5					19																	1470177		1633	3611	5244	SO:0001583	missense	10297	exon15			GAGAAAGCCCCGG		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.6877G>T	19.37:g.1470177G>T	ENSP00000442954:p.Ala2293Ser		44	0	0		38	0.08	3	NM_005883	0		0	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814026	0.50527	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.93604	-3.25;-2.91;-3.25	2.44	2.44	0.29823	.	0.515907	0.17885	N	0.158707	D	0.93210	0.7837	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	D	0.92220	0.5783	10	0.52906	T	0.07	-20.3939	11.0282	0.47757	0.0:0.0:1.0:0.0	.	2292;2293	O95996-3;O95996	.;APC2_HUMAN	S	2293;2019;2293	ENSP00000233607:A2293S;ENSP00000238483:A2019S;ENSP00000442954:A2293S	ENSP00000233607:A2293S	A	+	1	0	APC2	1421177	1.000000	0.71417	0.972000	0.41901	0.188000	0.23474	3.398000	0.52579	1.693000	0.51124	0.555000	0.69702	GCC			0.716	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449539.2		NM_005883		T	1470177	G	T	1470177	3	4	36	1	0	0	0	0	1	0	0	0	764	971	34	2	6931	2	APC2	19	1470177	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		1470177	57658806	62	2568											
ZNF555	148254	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	2853172	2853172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagagaaaccctacgaatGcaaacagtgtgggaagacct	15	6	12	8	1	0	2	0	0	0	2	0	6	0	4	2	2	4	1	2	2	5	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr19:2853172G>A	ENST00000334241.4	+	4	1247	c.1109G>A	c.(1108-1110)tGc>tAc	p.C370Y	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.C369Y	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	370					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(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTACGAATGCAAACAGTGT	0.448																																					p.C370Y													.	.			0			c.G1109A												82	71	75					19																	2853172		2203	4300	6503	SO:0001583	missense	148254	exon4			ACGAATGCAAACA	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1109G>A	19.37:g.2853172G>A	ENSP00000334853:p.Cys370Tyr		183	0	0		115	0.1	12	NM_152791	5	0.6	3	A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472017	0.63737	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	D	0.85088	-1.94	3.23	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93743	0.8000	H	0.94925	3.6	0.36404	D	0.863331	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96338	0.9249	9	0.87932	D	0	.	12.2801	0.54759	0.0:0.0:1.0:0.0	.	370;369	Q8NEP9;A8KA89	ZN555_HUMAN;.	Y	370;369	ENSP00000334853:C370Y	ENSP00000334853:C370Y	C	+	2	0	ZNF555	2804172	1.000000	0.71417	0.154000	0.22540	0.987000	0.75469	5.585000	0.67497	1.815000	0.52974	0.561000	0.74099	TGC			0.448	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000451637.3		NM_152791		A	2853172	G	A	2853172	3	1	36	1	0	0	0	0	1	0	0	0	18009	1319	46	2	1123	2	ZNF555	19	2853172	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	1382995	2853172	56275811	63	2569											
LPHN1	22859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	14273727	14273727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacgtgccctcaaagcGcagtgtgtaggggttcagct	7	9	12	13	2	2	0	2	0	0	0	3	0	3	0	2	2	3	4	2	2	2	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr19:14273727G>A	ENST00000340736.6	-	6	1198	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R296C|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'Flank	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	301	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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						CCCTCAAAGCGCAGTGTGTAG	0.622																																					p.R301C													.	.			0			c.C901T												93	67	76					19																	14273727		2203	4300	6503	SO:0001583	missense	22859	exon6			CAAAGCGCAGTGT	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.901C>T	19.37:g.14273727G>A	ENSP00000340688:p.Arg301Cys		70	0	0		63	0.19	12	NM_001008701	46	0.35	16	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628780	0.87560	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.90504	-2.68;-2.68	5.27	5.27	0.74061	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95823	0.8851	10	0.87932	D	0	.	16.3786	0.83431	0.0:0.0:1.0:0.0	.	296;301	O94910-2;O94910	.;LPHN1_HUMAN	C	301;296	ENSP00000340688:R301C;ENSP00000355328:R296C	ENSP00000340688:R301C	R	-	1	0	LPHN1	14134727	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.779000	0.99018	2.450000	0.82876	0.655000	0.94253	CGC			0.622	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000459696.1		NM_014921		A	14273727	G	A	14273727	3	1	36	1	0	0	0	0	1	0	0	0	8931	1087	38	1	3599	1	LPHN1	19	14273727	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	11420555	14273727	44855256	64	2570											
CHERP	10523	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	16636107	16636107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggggatagggcggccgctCgaaggggtgccgtggcggga	5	5	23	8	5	0	0	0	0	0	0	1	3	0	2	2	8	1	1	2	8	2	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr19:16636107C>T	ENST00000198939.6	-	10	1756	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.E563K|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGCGGCCGCTCGAAGGGGTGC	0.697																																					p.E563K													.	.			0			c.G1687A												10	14	13					19																	16636107		1855	4011	5866	SO:0001583	missense	10523	exon10			GCCGCTCGAAGGG	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1720G>A	19.37:g.16636107C>T	ENSP00000198939:p.Glu574Lys		75	0	0		85	0.16	14	NM_006387	80	0.35	28		Missense_Mutation	SNP	ENST00000198939.6	37		.	.	.	.	.	.	.	.	.	.	C	32	5.140963	0.94560	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	D;D	0.89552	-2.53;-2.53	5.13	5.13	0.70059	.	.	.	.	.	D	0.85957	0.5818	L	0.54323	1.7	0.58432	D	0.999996	D	0.61697	0.99	B	0.41764	0.366	D	0.84256	0.0480	9	0.15066	T	0.55	-24.6394	17.577	0.87953	0.0:1.0:0.0:0.0	.	563	Q8IWX8	CHERP_HUMAN	K	563;574	ENSP00000439856:E563K;ENSP00000198939:E574K	ENSP00000198939:E574K	E	-	1	0	CHERP	16497107	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.178000	0.77657	2.386000	0.81285	0.561000	0.74099	GAG			0.697	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000403372.1		NM_006387		T	16636107	C	T	16636107	3	4	36	1	0	0	0	0	1	0	0	0	3338	893	31	1	1095	1	CHERP	19	16636107	Missense_Mutation	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	2362380	16636107	42492876	65	2571											
ZNF14	7561	broad.mit.edu	37	chr19	19823097	19823097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacatttataaggtcgagcCccagtgtgtattattacatg	11	15	8	7	1	0	0	0	0	0	0	1	1	0	0	2	1	3	1	2	1	6	7			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr19:19823097C>T	ENST00000344099.3	-	4	1131	c.993G>A	c.(991-993)ggG>ggA	p.G331G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	331					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(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGGTCGAGCCCCAGTGTGTA	0.378																																					p.G331G													ZNF14,NS,carcinoma,-1,1	ZNF14	89	1	0			c.G993A												50	49	50					19																	19823097		2203	4300	6503	SO:0001819	synonymous_variant	7561	exon4			TCGAGCCCCAGTG	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.993G>A	19.37:g.19823097C>T			143	0	0		101	0.03	3	NM_021030	4	0	0	B9EGA4|Q9ULZ5	Silent	SNP	ENST00000344099.3	37	CCDS12409.1																																																																																					0.378	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460775.1		NM_021030		T	19823097	C	T	19823097	2	4	36	1	0	0	0	0	0	0	0	1	17751	610	22	3		3	ZNF14	19	19823097	Silent	SNP	C	TCGA-2G-AAGP-01A-11D-A42Y-10	3186990	19823097	39305886	66	2572											
ZCCHC3	85364	broad.mit.edu	37	chr20	279150	279150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgagctgcgccagggggAgggcggggtcaggcacttgc	6	5	20	10	3	1	0	1	0	0	0	2	3	1	1	1	6	3	2	1	6	0	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr20:279150A>G	ENST00000382352.3	+	1	1414	c.923A>G	c.(922-924)gAg>gGg	p.E308G		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	308							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CGCCAGGGGGAGGGCGGGGTC	0.632																																					p.E308G													.	ZCCHC3	20		0			c.A923G												47	53	51					20																	279150		1961	4143	6104	SO:0001583	missense	85364	exon1			AGGGGGAGGGCGG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"Zinc fingers, CCHC domain containing"	16230	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 99"	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.923A>G	20.37:g.279150A>G	ENSP00000371789:p.Glu308Gly		110	0.0272727273	3		66	0.05	3	NM_033089	12	0	0	Q3B7J3|Q6NT79	Missense_Mutation	SNP	ENST00000382352.3	37	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930635	0.52866	.	.	ENSG00000177764	ENST00000382352	.	.	.	5.2	5.2	0.72013	.	0.263997	0.28834	N	0.013991	T	0.51210	0.1661	N	0.08118	0	0.39317	D	0.965172	D	0.76494	0.999	D	0.66716	0.946	T	0.61811	-0.6986	9	0.62326	D	0.03	-34.7009	13.0708	0.59059	1.0:0.0:0.0:0.0	.	308	Q9NUD5	ZCHC3_HUMAN	G	308	.	ENSP00000371789:E308G	E	+	2	0	ZCCHC3	227150	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.349000	0.66010	2.186000	0.69663	0.454000	0.30748	GAG			0.632	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077447.1				G	279150	A	G	279150	3	3	36	1	0	0	0	0	1	0	0	0	17612	304	11	4	925	4	ZCCHC3	20	279150	Missense_Mutation	SNP	A	TCGA-2G-AAGP-01A-11D-A42Y-10		279150	62746370	67	2573											
NDRG3	57446	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr20	35284911	35284911	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccttacctgaactacctGgggcagtcccccacagtccg	7	9	8	17	1	1	1	0	1	1	0	4	1	3	1	6	2	3	1	6	2	3	2			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr20:35284911G>A	ENST00000349004.1	-	14	964	c.883C>T	c.(883-885)Cag>Tag	p.Q295*	NDRG3_ENST00000373773.3_Nonsense_Mutation_p.Q200*|NDRG3_ENST00000373803.2_Nonsense_Mutation_p.Q295*|NDRG3_ENST00000359675.2_Nonsense_Mutation_p.Q283*|NDRG3_ENST00000540765.1_Nonsense_Mutation_p.Q191*	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	295					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TGAACTACCTGGGGCAGTCCC	0.438																																					p.Q295X													.	NDRG3	32		0			c.C883T												53	55	54					20																	35284911		2203	4300	6503	SO:0001587	stop_gained	57446	exon14			CTACCTGGGGCAG	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.883C>T	20.37:g.35284911G>A	ENSP00000345292:p.Gln295*		210	0.0047619048	1		170	0.32	55	NM_032013	26	0	0	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Nonsense_Mutation	SNP	ENST00000349004.1	37	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200100	0.94997	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	.	.	.	5.09	5.09	0.68999	.	0.052672	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3671	0.83335	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;283;200;191	.	ENSP00000345292:Q295X	Q	-	1	0	NDRG3	34718325	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.140000	0.94607	2.808000	0.96608	0.655000	0.94253	CAG			0.438	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079053.2				A	35284911	G	A	35284911	4	1	36	1	0	0	0	0	0	1	0	0	10270	1357	47	3	256	3	NDRG3	20	35284911	Nonsense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	35005761	35284911	27740609	68	2574											
ZMYND8	23613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45874864	45874864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctctgaatcagagtccagGcccaaatggactgttgggga	10	9	12	10	0	2	2	1	1	1	1	4	4	3	4	2	4	0	1	2	4	2	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr20:45874864G>A	ENST00000311275.7	-	14	2365	c.2112C>T	c.(2110-2112)ggC>ggT	p.G704G	ZMYND8_ENST00000471951.2_Silent_p.G724G|ZMYND8_ENST00000355972.4_Silent_p.G704G|ZMYND8_ENST00000372023.3_Silent_p.G699G|ZMYND8_ENST00000458360.2_Silent_p.G699G|ZMYND8_ENST00000540497.1_Silent_p.G652G|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Silent_p.G704G|ZMYND8_ENST00000461685.1_Silent_p.G724G|ZMYND8_ENST00000360911.3_Silent_p.G699G|ZMYND8_ENST00000536340.1_Silent_p.G731G|ZMYND8_ENST00000396281.4_Silent_p.G704G|ZMYND8_ENST00000352431.2_Silent_p.G724G|ZMYND8_ENST00000446994.2_Silent_p.G641G	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	704					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)			CAGAGTCCAGGCCCAAATGGA	0.463																																					p.G724G													.	.			0			c.C2172T												160	154	156					20																	45874864		2203	4300	6503	SO:0001819	synonymous_variant	23613	exon14			GTCCAGGCCCAAA	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.2112C>T	20.37:g.45874864G>A			211	0	0		184	0.17	32	NM_183047	72	0.38	27	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		.	.	.	.	.	.	.	.	.	.	G	9.658	1.143385	0.21205	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.91	2.51	0.30379	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	-14.3936	0.9633	0.01400	0.1543:0.1749:0.2588:0.4119	.	.	.	.	S	632	.	.	P	-	1	0	ZMYND8	45308271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.856000	0.27818	0.792000	0.33850	0.655000	0.94253	CCT			0.463	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000079596.2		NM_183047		A	45874864	G	A	45874864	2	1	36	1	0	0	0	0	0	0	0	1	17734	1190	42	2		2	ZMYND8	20	45874864	Silent	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	10589953	45874864	17150656	69	2575											
CBS	875	mdanderson.org	37	chr21	44478969	44478969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccaccacgggcgcctGgtcgaagcccttctcccgga	6	7	10	18	4	2	0	1	0	1	0	5	2	3	1	5	3	1	0	5	3	1	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr21:44478969G>T	ENST00000398165.3	-	14	1592	c.1333C>A	c.(1333-1335)Cag>Aag	p.Q445K	CBS_ENST00000398168.1_Missense_Mutation_p.Q445K|CBS_ENST00000544202.1_Missense_Mutation_p.Q357K|CBS_ENST00000352178.5_Missense_Mutation_p.Q445K|CBS_ENST00000398158.1_Missense_Mutation_p.Q445K|CBS_ENST00000359624.3_Missense_Mutation_p.Q445K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	445	CBS. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ACGGGCGCCTGGTCGAAGCCC	0.662																																					p.Q445K													.	.			0			c.C1333A												33	33	33					21																	44478969		2178	4275	6453	SO:0001583	missense	875	exon14			GCGCCTGGTCGAA	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1333C>A	21.37:g.44478969G>T	ENSP00000381231:p.Gln445Lys		32	0	0		24	0.13	3	NM_001178009	174	0	0	B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	CCDS13693.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776484|4.776484	0.90195|0.90195	.|.	.|.	ENSG00000160200|ENSG00000160200	ENST00000451248|ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	.|D;D;D;D;D;D	.|0.93547	.|-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	4.71|4.71	4.71|4.71	0.59529|0.59529	.|Cystathionine beta-synthase, core (3);	.|0.061461	.|0.64402	.|D	.|0.000002	D|D	0.96747|0.96747	0.8938|0.8938	M|M	0.87269|0.87269	2.87|2.87	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.64830	.|0.984;0.994;0.962	.|P;D;P	.|0.63113	.|0.825;0.911;0.782	D|D	0.97657|0.97657	1.0158|1.0158	5|10	.|0.87932	.|D	.|0	-33.5509|-33.5509	17.3489|17.3489	0.87317|0.87317	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|445;445;402	.|P35520-2;P35520;B7Z2D6	.|.;CBS_HUMAN;.	Q|K	28|445;445;445;445;445;402;357	.|ENSP00000381225:Q445K;ENSP00000381231:Q445K;ENSP00000352643:Q445K;ENSP00000344460:Q445K;ENSP00000381234:Q445K;ENSP00000439332:Q357K	.|ENSP00000344460:Q445K	P|Q	-|-	2|1	0|0	CBS|CBS	43352038|43352038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	9.217000|9.217000	0.95160|0.95160	2.192000|2.192000	0.70111|0.70111	0.558000|0.558000	0.71614|0.71614	CCA|CAG			0.662	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195525.1		NM_000071		T	44478969	G	T	44478969	3	4	36	1	0	0	0	0	1	0	0	0	2713	1357	47	3	338	3	CBS	21	44478969	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		44478969	3650926	70	2576											
KREMEN1	83999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	29521294	29521294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttgcttctgtggaaacaAtcctgattactggaagtacg	10	13	10	8	1	1	1	0	1	1	0	2	3	2	3	1	2	5	3	1	2	5	4			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chr22:29521294A>G	ENST00000407188.1	+	5	515	c.515A>G	c.(514-516)aAt>aGt	p.N172S	KREMEN1_ENST00000400335.4_Missense_Mutation_p.N174S|KREMEN1_ENST00000400338.2_Missense_Mutation_p.N174S|KREMEN1_ENST00000327813.5_Missense_Mutation_p.N174S			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	172	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TGTGGAAACAATCCTGATTAC	0.547																																					p.N174S													.	.			0			c.A521G												178	186	184					22																	29521294		2156	4265	6421	SO:0001583	missense	83999	exon5			GAAACAATCCTGA	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.515A>G	22.37:g.29521294A>G	ENSP00000385431:p.Asn172Ser		116	0	0		80	0.21	17	NM_001039570	12	0.33	4	B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	A	9.888	1.203493	0.22121	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.74	4.71	0.59529	Carbohydrate-binding WSC (2);	0.080880	0.49916	D	0.000124	T	0.24084	0.0583	N	0.03948	-0.315	0.38960	D	0.958524	P;P;B	0.47253	0.892;0.571;0.005	B;B;B	0.42495	0.389;0.124;0.005	T	0.08126	-1.0737	10	0.17369	T	0.5	.	10.3953	0.44196	0.9223:0.0:0.0777:0.0	.	172;174;174	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	S	174;174;174;172	ENSP00000383189:N174S;ENSP00000383192:N174S;ENSP00000331242:N174S;ENSP00000385431:N172S	ENSP00000331242:N174S	N	+	2	0	KREMEN1	27851294	1.000000	0.71417	0.991000	0.47740	0.139000	0.21198	6.868000	0.75516	1.106000	0.41623	0.528000	0.53228	AAT			0.547	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320947.1				G	29521294	A	G	29521294	3	3	36	1	0	0	0	0	1	0	0	0	8457	101	4	4	539	4	KREMEN1	22	29521294	Missense_Mutation	SNP	A	TCGA-2G-AAGP-01A-11D-A42Y-10		29521294	21783272	71	2577											
ARSF	416	broad.mit.edu	37	chrX	3030575	3030575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagtctctcagcctcGgggtcctaacgagaagagat	12	7	13	9	2	2	3	1	0	1	3	5	6	3	4	2	3	2	0	2	3	3	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chrX:3030575G>A	ENST00000381127.1	+	11	1972	c.1751G>A	c.(1750-1752)cGg>cAg	p.R584Q	ARSF_ENST00000359361.2_Missense_Mutation_p.R584Q|ARSF_ENST00000537104.1_Missense_Mutation_p.R584Q	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	584					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)				TCTCAGCCTCGGGGTCCTAAC	0.488																																					p.R584Q													.	ARSF	97		0			c.G1751A												39	32	34					X																	3030575		2203	4300	6503	SO:0001583	missense	416	exon11			AGCCTCGGGGTCC	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.1751G>A	X.37:g.3030575G>A	ENSP00000370519:p.Arg584Gln		70	0	0		141	0.04	6	NM_004042	1	0	0	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	g	5.958	0.360698	0.11296	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95918	-3.85;-3.85;-3.85	2.46	-0.34	0.12643	.	.	.	.	.	D	0.84552	0.5497	N	0.14661	0.345	0.09310	N	1	P	0.44627	0.839	B	0.33846	0.171	T	0.78922	-0.2013	9	0.21014	T	0.42	.	3.266	0.06865	0.3922:0.0:0.4143:0.1935	.	584	P54793	ARSF_HUMAN	Q	584	ENSP00000370519:R584Q;ENSP00000445594:R584Q;ENSP00000352319:R584Q	ENSP00000352319:R584Q	R	+	2	0	ARSF	3040575	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.013000	0.03645	-0.310000	0.08766	-1.939000	0.00497	CGG			0.488	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055652.1				A	3030575	G	A	3030575	3	1	36	1	0	0	0	0	1	0	0	0	991	1116	39	1	1789	1	ARSF	23	3030575	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10		3030575	152239985	72	2578											
RAI2	10742	broad.mit.edu	37	chrX	17819967	17819967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggggttcagaatggatgggGctggcacggtcaccagggcc	7	6	19	9	1	2	1	2	0	0	1	2	2	2	2	2	8	0	3	2	8	1	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chrX:17819967G>T	ENST00000545871.1	-	3	624	c.164C>A	c.(163-165)gCc>gAc	p.A55D	RAI2_ENST00000331511.1_Missense_Mutation_p.A55D|RAI2_ENST00000415486.3_Intron|RAI2_ENST00000360011.1_Missense_Mutation_p.A55D|RAI2_ENST00000451717.1_Missense_Mutation_p.A55D	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	55					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AATGGATGGGGCTGGCACGGT	0.602																																					p.A55D													.	RAI2	66		0			c.C164A												94	93	93					X																	17819967		2203	4300	6503	SO:0001583	missense	10742	exon3			GATGGGGCTGGCA	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.164C>A	X.37:g.17819967G>T	ENSP00000444210:p.Ala55Asp		120	0	0		208	0.02	5	NM_001172739	25	0	0	B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426784	0.43020	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.5	4.63	0.57726	.	0.344597	0.27039	N	0.021239	T	0.39145	0.1067	L	0.27053	0.805	0.80722	D	1	P	0.37158	0.585	B	0.42827	0.399	T	0.35301	-0.9794	10	0.72032	D	0.01	-16.9152	15.5332	0.75980	0.0:0.1348:0.8652:0.0	.	55	Q9Y5P3	RAI2_HUMAN	D	55	ENSP00000333456:A55D;ENSP00000353106:A55D;ENSP00000444210:A55D;ENSP00000401323:A55D	ENSP00000333456:A55D	A	-	2	0	RAI2	17729888	1.000000	0.71417	0.950000	0.38849	0.847000	0.48162	9.132000	0.94455	1.088000	0.41272	0.529000	0.55759	GCC			0.602	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055937.1		NM_021785		T	17819967	G	T	17819967	3	4	36	1	0	0	0	0	1	0	0	0	13032	1203	42	2	1432	2	RAI2	23	17819967	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	14789392	17819967	137450593	73	2579											
CXorf59	286464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	36091305	36091305	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatgaaagtgaaacatcAgaggaagatcatgggtctct	14	10	12	5	0	3	4	2	2	1	2	4	6	3	6	0	3	1	0	0	3	3	1			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chrX:36091305A>C	ENST00000313548.4	+	4	426	c.240A>C	c.(238-240)tcA>tcC	p.S80S		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	80						integral component of membrane (GO:0016021)											GTGAAACATCAGAGGAAGATC	0.358																																					p.S80S													.	.			0			c.A240C												79	72	75					X																	36091305		2202	4300	6502	SO:0001819	synonymous_variant	286464	exon4			AACATCAGAGGAA	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.240A>C	X.37:g.36091305A>C			287	0	0		363	0.49	177	NM_173695	0		0		Silent	SNP	ENST00000313548.4	37	CCDS14238.1																																																																																					0.358	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_173695		C	36091305	A	C	36091305	2	2	36	1	0	0	0	0	0	0	0	1	4117	175	7	4		4	CXorf59	23	36091305	Silent	SNP	A	TCGA-2G-AAGP-01A-11D-A42Y-10	18271338	36091305	119179255	74	2580											
ZNF182	7569	mdanderson.org	37	chrX	47847944	47847944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccctctttgccttctGccatgagtagaagcttcctg	5	15	8	13	0	2	2	0	1	2	1	4	2	4	2	4	0	3	3	4	0	2	5			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chrX:47847944G>T	ENST00000396965.1	-	4	402	c.52C>A	c.(52-54)Cag>Aag	p.Q18K	ZNF182_ENST00000376943.3_Intron|ZNF182_ENST00000305127.6_Missense_Mutation_p.Q18K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						tttgccttctgccatgagtag	0.502																																					p.Q18K													.	.			0			c.C52A												285	129	186					X																	47847944		1327	2309	3636	SO:0001583	missense	7569	exon4			CCTTCTGCCATGA	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.52C>A	X.37:g.47847944G>T	ENSP00000380165:p.Gln18Lys		29	0	0		38	0.08	3	NM_006962	0		0	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	g	9.283	1.048716	0.19827	.	.	ENSG00000147118	ENST00000396965;ENST00000305127	T;T	0.06294	3.32;3.32	0.13	0.13	0.14746	.	.	.	.	.	T	0.02610	0.0079	N	0.11560	0.145	0.32269	N	0.569076	B	0.26041	0.14	B	0.22880	0.042	T	0.45877	-0.9231	8	0.06099	T	0.92	.	.	.	.	.	18	P17025	ZN182_HUMAN	K	18	ENSP00000380165:Q18K;ENSP00000306351:Q18K	ENSP00000306351:Q18K	Q	-	1	0	ZNF182	47732888	0.915000	0.31059	0.638000	0.29380	0.639000	0.38242	-0.598000	0.05706	0.171000	0.19730	0.173000	0.16961	CAG			0.502	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000277055.1		NM_006962		T	47847944	G	T	47847944	3	4	36	1	0	0	0	0	1	0	0	0	17773	1328	46	2	1883	2	ZNF182	23	47847944	Missense_Mutation	SNP	G	TCGA-2G-AAGP-01A-11D-A42Y-10	11756639	47847944	107422616	75	2581											
ATRX	546	broad.mit.edu	37	chrX	76938655	76938655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaagaattacgcttatccTtttttctcactggaactgat	11	15	6	9	1	1	3	1	1	1	2	3	4	2	4	1	1	2	1	1	1	5	5			TCGA-2G-AAGP-01A-11D-A42Y-10	TCGA-2G-AAGP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79a36367-9e68-4e76-af66-085a68c13add	2f54fd19-65e9-4992-a984-fc446f349244	g.chrX:76938655T>C	ENST00000373344.5	-	9	2307	c.2093A>G	c.(2092-2094)aAg>aGg	p.K698R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K660R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	698					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						ACGCTTATCCTTTTTTCTCAC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.K698R				Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX	833		1	Unknown(1)	bone(1)	c.A2093G												154	151	152					X																	76938655		2203	4295	6498	SO:0001583	missense	546	exon9			TTATCCTTTTTTC	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.2093A>G	X.37:g.76938655T>C	ENSP00000362441:p.Lys698Arg		81	0	0		140	0.02	3	NM_000489	36	0	0	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	7.861	0.725980	0.15439	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92911	-3.1;-3.13	5.74	5.74	0.90152	.	0.591571	0.17731	N	0.163908	D	0.89121	0.6625	L	0.58101	1.795	0.80722	D	1	P;P;B;P	0.40660	0.457;0.726;0.449;0.457	B;B;B;B	0.35413	0.129;0.202;0.154;0.129	D	0.89028	0.3440	10	0.66056	D	0.02	-5.582	11.0484	0.47872	0.0:0.0:0.1529:0.8471	.	698;630;660;698	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	R	698;660;625	ENSP00000362441:K698R;ENSP00000378967:K660R	ENSP00000362441:K698R	K	-	2	0	ATRX	76825311	0.999000	0.42202	0.999000	0.59377	0.864000	0.49448	1.969000	0.40510	1.923000	0.55706	0.417000	0.27973	AAG			0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058860.2		NM_000489		C	76938655	T	C	76938655	3	2	36	1	0	0	0	0	1	0	0	0	1208	1609	56	4	5493	4	ATRX	23	76938655	Missense_Mutation	SNP	T	TCGA-2G-AAGP-01A-11D-A42Y-10	29090711	76938655	78331905	76	2582											
PTCHD2	57540	mdanderson.org	37	chr1	11586864	11586864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgacttcagcttctacGtggccaccaaggagcagcag	10	9	11	11	1	2	1	1	1	1	0	2	2	2	2	2	2	4	4	2	2	2	4			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr1:11586864G>A	ENST00000294484.6	+	13	2908	c.2770G>A	c.(2770-2772)Gtg>Atg	p.V924M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V924M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	924					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)		CAGCTTCTACGTGGCCACCAA	0.607																																					p.V924M													.	.			0			c.G2770A												33	38	37					1																	11586864		2077	4205	6282	SO:0001583	missense	57540	exon13			TTCTACGTGGCCA	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.2770G>A	1.37:g.11586864G>A	ENSP00000294484:p.Val924Met		33	0	0		31	0.1	3	NM_020780	9	0	0	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611001	0.87258	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.92348	-3.02;-3.02	5.58	5.58	0.84498	.	0.157033	0.42682	D	0.000672	D	0.90143	0.6920	L	0.29908	0.895	0.38869	D	0.956653	D	0.55385	0.971	P	0.47206	0.541	D	0.91941	0.5563	10	0.66056	D	0.02	-17.7905	18.5585	0.91093	0.0:0.0:1.0:0.0	.	924	Q9P2K9	PTHD2_HUMAN	M	924	ENSP00000294484:V924M;ENSP00000374226:V924M	ENSP00000294484:V924M	V	+	1	0	PTCHD2	11509451	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.589000	0.74080	2.622000	0.88805	0.462000	0.41574	GTG			0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000005770.2		XM_052561		A	11586864	G	A	11586864	3	1	37	1	0	0	0	0	1	0	0	0	12753	1145	40	1	2816	1	PTCHD2	1	11586864	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		11586864	237663757	1	2583											
PI4KB	5298	mdanderson.org	37	chr1	151288391	151288391	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaatggcatcacccacAtcctcatccatgtggatgta	10	11	8	12	0	2	0	2	0	0	0	4	1	4	1	3	3	0	3	3	3	2	2	rs1752379	byFrequency	TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr1:151288391A>T	ENST00000368873.1	-	2	735	c.567T>A	c.(565-567)gaT>gaA	p.D189E	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368875.2_Missense_Mutation_p.D201E|PI4KB_ENST00000368874.4_Missense_Mutation_p.D189E|PI4KB_ENST00000271657.5_Missense_Mutation_p.D201E|PI4KB_ENST00000368872.1_Missense_Mutation_p.D189E			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	189	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)			CATCACCCACATCCTCATCCA	0.512																																					p.D201E	Colon(154;765 1838 9854 28443 37492)												.	.			0			c.T603A												118	105	109					1																	151288391		2203	4300	6503	SO:0001583	missense	5298	exon3			ACCCACATCCTCA	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.567T>A	1.37:g.151288391A>T	ENSP00000357867:p.Asp189Glu		73	0	0		99	0.03	3	NM_002651	51	0	0	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	G	12.46	1.943169	0.34283	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	4.98	-2.7	0.06004	.	0.052266	0.85682	D	0.000000	T	0.12263	0.0298	L	0.37630	1.12	0.21256	P	0.999745329	P;B;B	0.37500	0.597;0.008;0.025	B;B;B	0.35813	0.211;0.005;0.05	T	0.13045	-1.0524	9	0.22109	T	0.4	-20.1779	11.8956	0.52654	0.5982:0.0:0.4018:0.0	.	189;189;189	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	E	189;201;201;189;189;189	ENSP00000357868:D189E;ENSP00000357869:D201E;ENSP00000271657:D201E;ENSP00000357867:D189E;ENSP00000357866:D189E;ENSP00000394719:D189E	ENSP00000271657:D201E	D	-	3	2	PI4KB	149555015	0.080000	0.21391	0.959000	0.39883	0.981000	0.71138	-0.730000	0.04915	-0.744000	0.04778	-1.082000	0.02213	GAT			0.512	PI4KB-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000034400.3		NM_002651		T	151288391	A	T	151288391	3	4	37	1	0	0	0	0	1	0	0	0	11891	214	8	5	1927	5	PI4KB	1	151288391	Missense_Mutation	SNP	A	TCGA-2G-AAGS-01A-11D-A42Y-10	139701527	151288391	97962230	2	2584											
FAM5B	57795	broad.mit.edu	37	chr1	177247722	177247722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttccaggccctgctgaaaAggctgcccgatgaccggttc	8	8	12	13	2	0	2	0	2	0	0	2	3	1	2	4	3	2	4	4	3	2	2			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr1:177247722A>G	ENST00000361539.4	+	7	1348	c.1036A>G	c.(1036-1038)Agg>Ggg	p.R346G	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	346					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)	extracellular region (GO:0005576)											CCTGCTGAAAAGGCTGCCCGA	0.592																																					p.R346G													.	FAM5B	191		0			c.A1036G												156	166	163					1																	177247722		2203	4300	6503	SO:0001583	missense	0	exon7			CTGAAAAGGCTGC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1036A>G	1.37:g.177247722A>G	ENSP00000354481:p.Arg346Gly		172	0.0058139535	1		265	0.02	5	NM_021165	0		0	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.782534	0.49891	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.18960	2.18	5.27	-2.5	0.06384	.	0.053205	0.64402	D	0.000001	T	0.36580	0.0972	M	0.67397	2.05	0.40841	D	0.983675	D;P;P	0.63046	0.992;0.915;0.598	P;P;B	0.59357	0.856;0.653;0.247	T	0.52223	-0.8604	10	0.87932	D	0	-9.5553	15.9782	0.80086	0.3875:0.6125:0.0:0.0	.	96;241;346	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	G	96;346	ENSP00000354481:R346G	ENSP00000354481:R346G	R	+	1	2	FAM5B	175514345	0.995000	0.38212	0.941000	0.38009	0.918000	0.54935	1.763000	0.38461	-0.019000	0.14055	0.533000	0.62120	AGG			0.592	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084599.1		NM_021165		G	177247722	A	G	177247722	3	3	37	1	0	0	0	0	1	0	0	0	5606	63	3	4	1058	4	FAM5B	1	177247722	Missense_Mutation	SNP	A	TCGA-2G-AAGS-01A-11D-A42Y-10	25959331	177247722	72002899	3	2585											
PHLDA3	23612	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	201437676	201437676	+	Frame_Shift_Del	DEL	C	C	-																															agcggaagtcgatctcgccgCccccttcggtcaccagcgtg																										TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr1:201437676delC	ENST00000367311.3	-	1	636	c.239delG	c.(238-240)ggcfs	p.G81fs	PHLDA3_ENST00000367309.1_Frame_Shift_Del_p.G81fs|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	81	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						GATCTCGCCGCCCCCTTCGGT	0.657																																					p.G80fs													PHLDA3,colon,carcinoma,0,1	PHLDA3	11		0			c.240delC												66	71	69					1																	201437676		2203	4300	6503	SO:0001589	frameshift_variant	23612	exon1			TCGCCGCCCCCTT	AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"pleckstrin homology-like domain, family A, member 2"	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.239delG	1.37:g.201437676delC	ENSP00000356280:p.Gly81fs		289	0	0		241	0.29	71	NM_012396	290	0	0	B2R5A4|Q53HD6|Q8NBW9	Frame_Shift_Del	DEL	ENST00000367311.3	37	CCDS1412.1																																																																																					0.657	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087020.2		NM_012396		-	201437676	C	-	201437676	7	5	37	1	0	1	0	1	0	0	0	0	11867	739	26	0	148	0	PHLDA3	1	201437676	Frame_Shift_Del	DEL	C	TCGA-2G-AAGS-01A-11D-A42Y-10	24189954	201437676	47812945	4	2586											
ERO1LB	56605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	236389708	236389708	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctcaatcaagtataaaaAgtaaagattcttgagccttc	17	11	6	7	0	3	2	2	1	1	1	4	2	3	2	1	0	2	3	1	0	9	6			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr1:236389708A>C	ENST00000354619.5	-	12	1114	c.913T>G	c.(913-915)Ttt>Gtt	p.F305V		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	305					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|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)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	AAGTATAAAAAGTAAAGATTC	0.428																																					p.F305V													.	.			0			c.T913G												94	98	97					1																	236389708		2203	4300	6503	SO:0001583	missense	56605	exon12			ATAAAAAGTAAAG	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.913T>G	1.37:g.236389708A>C	ENSP00000346635:p.Phe305Val		164	0	0		226	0.31	70	NM_019891	5	0.2	1	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699042	0.88830	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.56941	0.43;0.43	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82739	-0.0308	10	0.66056	D	0.02	-24.8285	15.7024	0.77552	1.0:0.0:0.0:0.0	.	305	Q86YB8	ERO1B_HUMAN	V	305;30	ENSP00000346635:F305V;ENSP00000264181:F30V	ENSP00000264181:F30V	F	-	1	0	ERO1LB	234456331	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.933000	0.92911	2.109000	0.64355	0.472000	0.43445	TTT			0.428	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096371.1		NM_019891		C	236389708	A	C	236389708	3	2	37	1	0	0	0	0	1	0	0	0	5247	72	3	4	510	4	ERO1LB	1	236389708	Missense_Mutation	SNP	A	TCGA-2G-AAGS-01A-11D-A42Y-10	34952032	236389708	12860913	5	2587											
LPIN1	23175	broad.mit.edu;mdanderson.org	37	chr2	11945257	11945257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggacccatcagggcatcGctaagctgtaccataaagtg	12	9	10	10	1	1	0	1	0	0	0	2	1	1	1	2	2	2	4	2	2	4	4	rs147550491		TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr2:11945257G>A	ENST00000256720.2	+	16	2209	c.2116G>A	c.(2116-2118)Gct>Act	p.A706T	LPIN1_ENST00000404113.2_Missense_Mutation_p.A207T|LPIN1_ENST00000449576.2_Missense_Mutation_p.A791T|LPIN1_ENST00000396097.1_Missense_Mutation_p.A436T|LPIN1_ENST00000396099.1_Missense_Mutation_p.A748T|LPIN1_ENST00000425416.2_Missense_Mutation_p.A712T	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	706	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCAGGGCATCGCTAAGCTGTA	0.468																																					p.A791T													.	LPIN1	99		0			c.G2371A							G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	120	104	110		2116	5.2	0.1	2	dbSNP_134	110	0,8600		0,0,4300	no	missense	LPIN1	NM_145693.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	706/891	11945257	1,13005	2203	4300	6503	SO:0001583	missense	23175	exon18			GGCATCGCTAAGC	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2116G>A	2.37:g.11945257G>A	ENSP00000256720:p.Ala706Thr		91	0	0		95	0.04	4	NM_001261428	10	0	0	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694235	0.88735	2.27E-4	0.0	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.15	5.15	0.70609	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.63208	1.945	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.994	P;D;P	0.91635	0.844;0.999;0.903	D	0.84741	0.0751	10	0.34782	T	0.22	-25.1304	18.9934	0.92803	0.0:0.0:1.0:0.0	.	207;791;706	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	T	791;748;712;706;436;207	ENSP00000397908:A791T;ENSP00000379406:A748T;ENSP00000401522:A712T;ENSP00000256720:A706T;ENSP00000379404:A436T;ENSP00000386120:A207T	ENSP00000256720:A706T	A	+	1	0	LPIN1	11862708	1.000000	0.71417	0.135000	0.22099	0.991000	0.79684	9.284000	0.95882	2.569000	0.86673	0.563000	0.77884	GCT			0.468	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239296.3		NM_145693		A	11945257	G	A	11945257	3	1	37	1	0	0	0	0	1	0	0	0	8934	1087	38	1	2174	1	LPIN1	2	11945257	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		11945257	231254116	6	2588											
LHCGR	3973	broad.mit.edu	37	chr2	48982761	48982761	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggcagcggcggctgcAgcagcagcagcagcttcagc	7	5	15	14	3	1	0	1	0	0	0	2	0	1	0	0	3	8	8	0	3	0	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr2:48982761A>T	ENST00000294954.7	-	1	71	c.50T>A	c.(49-51)cTg>cAg	p.L17Q	LHCGR_ENST00000403273.1_Missense_Mutation_p.L17Q|LHCGR_ENST00000401907.1_Missense_Mutation_p.L17Q|LHCGR_ENST00000344775.3_Missense_Mutation_p.L17Q|LHCGR_ENST00000405626.1_Missense_Mutation_p.L17Q|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	17					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	cggcggctgcagcagcagcag	0.721																																					p.L17Q													.	LHCGR	154		0			c.T50A												1	3	2					2																	48982761		941	1909	2850	SO:0001583	missense	3973	exon1			GGCTGCAGCAGCA		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.50T>A	2.37:g.48982761A>T	ENSP00000294954:p.Leu17Gln		31	0	0		27	0.11	3	NM_000233	0		0	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403405	0.62288	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.29	-1.16	0.09678	.	0.305275	0.27019	N	0.021324	T	0.53206	0.1782	L	0.29908	0.895	0.09310	N	0.999993	P	0.37864	0.61	B	0.28784	0.094	T	0.46721	-0.9171	9	.	.	.	.	3.9646	0.09426	0.4938:0.1876:0.3185:0.0	.	17	P22888	LSHR_HUMAN	Q	17	ENSP00000344301:L17Q;ENSP00000294954:L17Q;ENSP00000386033:L17Q;ENSP00000385847:L17Q;ENSP00000385406:L17Q	.	L	-	2	0	LHCGR	48836265	0.027000	0.19231	0.867000	0.34043	0.542000	0.35054	-0.055000	0.11807	-0.388000	0.07797	0.421000	0.28195	CTG			0.721	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251364.4		NM_000233.3		T	48982761	A	T	48982761	3	4	37	1	0	0	0	0	1	0	0	0	8777	188	7	5	2093	5	LHCGR	2	48982761	Missense_Mutation	SNP	A	TCGA-2G-AAGS-01A-11D-A42Y-10	37037504	48982761	194216612	7	2589											
SERPINE2	5270	mdanderson.org	37	chr2	224866576	224866576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggagcagatggaaggcagCgtcacagaggccaagaggaa	14	3	17	7	1	1	3	1	0	0	3	1	6	1	6	1	5	2	2	1	5	3	0	rs12436	byFrequency	TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr2:224866576C>T	ENST00000258405.4	-	2	284	c.42G>A	c.(40-42)acG>acA	p.T14T	SERPINE2_ENST00000447280.2_Silent_p.T26T|SERPINE2_ENST00000409840.3_Silent_p.T14T|SERPINE2_ENST00000409304.1_Silent_p.T14T	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	14					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGAAGGCAGCGTCACAGAGG	0.478																																					p.T26T													SERPINE2_ENST00000447280,NS,carcinoma,-1,2	SERPINE2_ENST00000447280	-1	2	0			c.G78A												100	112	108					2																	224866576		2203	4300	6503	SO:0001819	synonymous_variant	5270	exon2			AGGCAGCGTCACA	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.42G>A	2.37:g.224866576C>T			59	0	0		45	0.07	3	NM_001136530	279	0	0	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	CCDS2460.1																																																																																					0.478	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256865.2		NM_006216		T	224866576	C	T	224866576	2	4	37	1	0	0	0	0	0	0	0	1	14135	755	27	1		1	SERPINE2	2	224866576	Silent	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	175883815	224866576	18332797	8	2590											
DGKG	1608	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	185975651	185975651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgcttaccaatgcaaTccaaaatccagccaactgtc	13	8	5	15	0	0	0	0	0	0	0	3	0	2	0	5	0	5	2	5	0	6	1	rs560924252		TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr3:185975651T>C	ENST00000265022.3	-	17	2041	c.1502A>G	c.(1501-1503)gAt>gGt	p.D501G	DGKG_ENST00000544847.1_Missense_Mutation_p.D442G|DGKG_ENST00000344484.4_Missense_Mutation_p.D476G|DGKG_ENST00000382164.4_Missense_Mutation_p.D462G	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	501	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)	ACCAATGCAATCCAAAATCCA	0.448													T|||	1	0.000199681	0	0	5008	,	,		20054	0		0	False		,,,				2504	0.001				p.D501G													.	DGKG	98		0			c.A1502G												126	115	119					3																	185975651		2203	4300	6503	SO:0001583	missense	1608	exon17			ATGCAATCCAAAA	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.1502A>G	3.37:g.185975651T>C	ENSP00000265022:p.Asp501Gly		121	0.0165289256	2		137	0.36	50	NM_001346	0		0	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990235	0.74589	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.33	5.33	0.75918	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	0.968;0.968;1.0;1.0	D;P;D;D	0.76575	0.91;0.89;0.987;0.988	T	0.59016	-0.7533	10	0.72032	D	0.01	.	14.4259	0.67215	0.0:0.0:0.0:1.0	.	442;476;462;501	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	G	501;476;462;442;465	ENSP00000265022:D501G;ENSP00000339777:D476G;ENSP00000371599:D462G;ENSP00000440507:D442G	ENSP00000265022:D501G	D	-	2	0	DGKG	187458345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.739000	0.84976	2.240000	0.73641	0.533000	0.62120	GAT			0.448	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344800.3				C	185975651	T	C	185975651	3	2	37	1	0	0	0	0	1	0	0	0	4474	1435	50	4	909	4	DGKG	3	185975651	Missense_Mutation	SNP	T	TCGA-2G-AAGS-01A-11D-A42Y-10		185975651	12046779	9	2591											
POLN	353497	mdanderson.org	37	chr4	2082736	2082736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgaagacatggatcatgGccagcttgcagaggtcagca	12	7	13	9	0	2	3	2	1	0	2	2	4	2	4	1	3	3	3	1	3	1	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr4:2082736G>T	ENST00000511885.2	-	23	2689	c.2336C>A	c.(2335-2337)gCc>gAc	p.A779D	POLN_ENST00000382865.1_Missense_Mutation_p.A779D			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	779					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATGGATCATGGCCAGCTTGCA	0.587								DNA polymerases (catalytic subunits)																													p.A779D													.	.			0			c.C2336A												171	159	163					4																	2082736		2203	4300	6503	SO:0001583	missense	353497	exon21			ATCATGGCCAGCT	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2336C>A	4.37:g.2082736G>T	ENSP00000435506:p.Ala779Asp		63	0	0		35	0.09	3	NM_181808	0		0	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.343954|3.343954	0.61073|0.61073	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313|ENST00000511098	D;D|.	0.97378|.	-4.36;-4.36|.	4.15|4.15	4.15|4.15	0.48705|0.48705	DNA-directed DNA polymerase, family A, palm domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87807|0.87807	0.6270|0.6270	H|H	0.98612|0.98612	4.28|4.28	0.47341|0.47341	D|D	0.999392|0.999392	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.91325|0.91325	0.5085|0.5085	10|5	0.87932|.	D|.	0|.	-13.073|-13.073	12.1593|12.1593	0.54096|0.54096	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	470;779|.	E9PE06;Q7Z5Q5|.	.;DPOLN_HUMAN|.	D|T	779;779;470|412	ENSP00000435506:A779D;ENSP00000372316:A779D|.	ENSP00000253313:A470D|.	A|P	-|-	2|1	0|0	POLN|POLN	2052534|2052534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.579000|0.579000	0.36224|0.36224	6.200000|6.200000	0.72118|0.72118	2.309000|2.309000	0.77851|0.77851	0.561000|0.561000	0.74099|0.74099	GCC|CCA			0.587	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000205684.2		NM_181808		T	2082736	G	T	2082736	3	4	37	1	0	0	0	0	1	0	0	0	12224	1203	42	2	382	2	POLN	4	2082736	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		2082736	189071540	10	2592											
RGS12	6002	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	3319740	3319740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaatgcaaagcatttttggtCcccatcgaaatgttcgaaag	13	11	9	8	2	0	0	0	0	0	0	3	3	1	0	2	1	2	3	2	1	4	3			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr4:3319740C>T	ENST00000344733.5	+	2	2747	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S	RGS12_ENST00000336727.3_Missense_Mutation_p.P615S|RGS12_ENST00000382788.3_Missense_Mutation_p.P615S|RGS12_ENST00000543385.1_Missense_Mutation_p.P615S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	615					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)		CATTTTTGGTCCCCATCGAAA	0.582																																					p.P615S													.	RGS12	128		0			c.C1843T												80	96	91					4																	3319740		2203	4300	6503	SO:0001583	missense	6002	exon2			TTTGGTCCCCATC	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.1843C>T	4.37:g.3319740C>T	ENSP00000339381:p.Pro615Ser		257	0.0038910506	1		199	0.24	48	NM_002926	19	0.58	11	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	4.833	0.154889	0.09236	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.28255	1.62;1.74;1.74;1.74	4.66	3.82	0.43975	.	0.443067	0.24056	N	0.041941	T	0.23766	0.0575	L	0.51422	1.61	0.80722	D	1	B;B;B	0.21071	0.011;0.03;0.051	B;B;B	0.19946	0.006;0.008;0.027	T	0.04413	-1.0953	10	0.13108	T	0.6	-20.7107	7.7378	0.28825	0.0:0.7479:0.1638:0.0883	.	615;615;615	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	S	615	ENSP00000440566:P615S;ENSP00000339381:P615S;ENSP00000338509:P615S;ENSP00000372238:P615S	ENSP00000338509:P615S	P	+	1	0	RGS12	3289538	0.146000	0.22672	0.720000	0.30636	0.870000	0.49936	1.844000	0.39269	0.975000	0.38392	-0.339000	0.08088	CCC			0.582	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000206602.1		NM_002926		T	3319740	C	T	3319740	3	4	37	1	0	0	0	0	1	0	0	0	13318	855	30	3	1845	3	RGS12	4	3319740	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	1237004	3319740	187834536	11	2593											
KLHL2	11275	mdanderson.org	37	chr4	166220781	166220781	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaagagtgtccggacccgGctgaggacacccatgaacct	11	6	12	12	2	0	4	0	3	0	1	1	6	1	6	4	3	1	1	4	3	2	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr4:166220781G>T	ENST00000226725.6	+	8	1153	c.894G>T	c.(892-894)cgG>cgT	p.R298R	KLHL2_ENST00000514860.1_Silent_p.R302R|KLHL2_ENST00000506761.1_Silent_p.R132R|KLHL2_ENST00000538127.1_Silent_p.R210R|KLHL2_ENST00000421009.2_Silent_p.R201R|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	298					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TCCGGACCCGGCTGAGGACAC	0.428																																					p.R302R													.	.			0			c.G906T												80	82	81					4																	166220781		2203	4300	6503	SO:0001819	synonymous_variant	11275	exon8			GACCCGGCTGAGG	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.894G>T	4.37:g.166220781G>T			45	0	0		40	0.08	3	NM_001161521	11	0	0	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Silent	SNP	ENST00000226725.6	37	CCDS34094.1																																																																																					0.428	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000364439.1				T	166220781	G	T	166220781	2	4	37	1	0	0	0	0	0	0	0	1	8389	1190	42	2		2	KLHL2	4	166220781	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	162901041	166220781	24933495	12	2594											
C4orf41	60684	hgsc.bcm.edu;mdanderson.org	37	chr4	184589238	184589238	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtctttgtttgtactgccGcacactgaccaccttgtggg	7	13	10	11	1	1	1	0	1	1	0	1	1	1	1	3	1	2	3	3	1	2	4			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr4:184589238G>A	ENST00000334690.6	+	5	730	c.528G>A	c.(526-528)ccG>ccA	p.P176P	TRAPPC11_ENST00000357207.4_Silent_p.P176P|TRAPPC11_ENST00000511409.1_3'UTR	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	176					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											TTGTACTGCCGCACACTGACC	0.378																																					p.P176P													C4orf41,NS,carcinoma,0,1	C4orf41	0	1	0			c.G528A												139	138	138					4																	184589238		2203	4300	6503	SO:0001819	synonymous_variant	60684	exon5			ACTGCCGCACACT		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.528G>A	4.37:g.184589238G>A			78	0.0128205128	1		100	0.05	5	NM_021942	28	0	0	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	CCDS34112.1																																																																																					0.378	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361654.2		NM_021942		A	184589238	G	A	184589238	2	1	37	1	0	0	0	0	0	0	0	1	2272	1074	38	1		1	C4orf41	4	184589238	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	18368457	184589238	6565038	13	2595											
CCNO	10309	broad.mit.edu	37	chr5	54527462	54527462	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagactcagctctgccAccccccgcgccagggcttgc	5	5	11	20	3	2	1	1	0	1	1	2	1	2	1	6	2	3	2	6	2	0	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr5:54527462A>C	ENST00000282572.4	-	3	950	c.794T>G	c.(793-795)gTg>gGg	p.V265G	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	265					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			CAGCTCTGCCACCCCCCGCGC	0.667																																					p.V265G													.	CCNO	17		0			c.T794G												23	23	23					5																	54527462		2193	4288	6481	SO:0001583	missense	10309	exon3			TCTGCCACCCCCC	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"cyclin U"	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.794T>G	5.37:g.54527462A>C	ENSP00000282572:p.Val265Gly		105	0.1523809524	16		105	0.11	12	NM_021147	9	0.11	1	A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.208005	0.58343	.	.	ENSG00000152669	ENST00000282572	T	0.44881	0.91	5.31	5.31	0.75309	Cyclin, C-terminal (1);Cyclin-like (3);	0.235963	0.39544	N	0.001337	T	0.57184	0.2036	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.60454	-0.7260	10	0.87932	D	0	.	15.2158	0.73264	1.0:0.0:0.0:0.0	.	265	P22674	CCNO_HUMAN	G	265	ENSP00000282572:V265G	ENSP00000282572:V265G	V	-	2	0	CCNO	54563219	1.000000	0.71417	0.994000	0.49952	0.076000	0.17211	6.619000	0.74219	2.139000	0.66308	0.402000	0.26972	GTG			0.667	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369707.1		NM_021147		C	54527462	A	C	54527462	3	2	37	1	0	0	0	0	1	0	0	0	2935	159	6	4	262	4	CCNO	5	54527462	Missense_Mutation	SNP	A	TCGA-2G-AAGS-01A-11D-A42Y-10		54527462	126387798	14	2596											
TCERG1	10915	broad.mit.edu	37	chr5	145836872	145836872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctacggaggagatatggGttgaaaataaaactccagat	15	9	10	7	1	0	3	0	1	0	2	2	5	2	4	2	3	2	1	2	3	6	4			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr5:145836872G>T	ENST00000296702.5	+	3	450	c.412G>T	c.(412-414)Gtt>Ttt	p.V138F	TCERG1_ENST00000394421.2_Missense_Mutation_p.V138F	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	138	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGATATGGGTTGAAAATAA	0.433																																					p.V138F													.	TCERG1	148		0			c.G412T												56	55	55					5																	145836872		2203	4300	6503	SO:0001583	missense	10915	exon3			ATATGGGTTGAAA	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.412G>T	5.37:g.145836872G>T	ENSP00000296702:p.Val138Phe		87	0	0		128	0.04	5	NM_006706	73	0	0	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980678	0.74474	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.83419	-1.72;-1.72	5.28	5.28	0.74379	WW/Rsp5/WWP (5);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.87617	2.895	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.996	D;D;D	0.85130	0.997;0.98;0.988	D	0.93520	0.6860	10	0.72032	D	0.01	-16.6096	18.9097	0.92477	0.0:0.0:1.0:0.0	.	138;138;138	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	F	138	ENSP00000296702:V138F;ENSP00000377943:V138F	ENSP00000296702:V138F	V	+	1	0	TCERG1	145817065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.463000	0.83235	0.491000	0.48974	GTT			0.433	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251886.1		NM_001040006		T	145836872	G	T	145836872	3	4	37	1	0	0	0	0	1	0	0	0	15708	1261	44	3	422	3	TCERG1	5	145836872	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	91309410	145836872	35078388	15	2597											
TUBB	203068	mdanderson.org	37	chr6	30691668	30691668	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccctctcaccagccgtGgaagccagcagtatcgagct	8	8	10	15	2	1	0	1	0	1	0	3	2	1	1	5	1	5	3	5	1	2	2			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr6:30691668G>T	ENST00000327892.8	+	4	1135	c.829G>T	c.(829-831)Gga>Tga	p.G277*	TUBB_ENST00000396389.1_Nonsense_Mutation_p.G259*|TUBB_ENST00000396384.1_Nonsense_Mutation_p.G205*|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000330914.3_Nonsense_Mutation_p.G205*|TUBB_ENST00000435534.1_Intron	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	277					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|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 polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G277*(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CACCAGCCGTGGAAGCCAGCA	0.587																																					p.G277X													TUBB,NS,carcinoma,0,1	TUBB	0	1	1	Substitution - Nonsense(1)	lung(1)	c.G829T												66	62	63					6																	30691668		2203	4300	6503	SO:0001587	stop_gained	203068	exon4			AGCCGTGGAAGCC	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.829G>T	6.37:g.30691668G>T	ENSP00000339001:p.Gly277*		62	0	0		50	0.06	3	NM_178014	6607	0	5	P05218|Q8WUC1|Q9CY33	Nonsense_Mutation	SNP	ENST00000327892.8	37	CCDS4687.1	.	.	.	.	.	.	.	.	.	.	G	38	7.251778	0.98164	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000330914;ENST00000396389;ENST00000396384;ENST00000538863	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.1681	0.65490	0.0:0.0:1.0:0.0	.	.	.	.	X	277;186;205;259;205;131	.	ENSP00000339001:G277X	G	+	1	0	TUBB	30799647	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.301000	0.96167	2.204000	0.70986	0.591000	0.81541	GGA			0.587	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076074.2		NM_178014		T	30691668	G	T	30691668	4	4	37	1	0	0	0	0	0	1	0	0	16776	1349	47	3	843	3	TUBB	6	30691668	Nonsense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		30691668	140423399	16	2598											
INTS1	26173	broad.mit.edu	37	chr7	1527082	1527082	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggaggcctccgggggggCcccctgagggccacagggga	5	2	22	12	1	0	1	0	1	0	0	1	3	1	3	5	9	0	0	5	9	0	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr7:1527082C>G	ENST00000404767.3	-	20	2605	c.2520G>C	c.(2518-2520)ggG>ggC	p.G840G	INTS1_ENST00000389470.4_Silent_p.G983G	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	840					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)		TCCGGGGGGGCCCCCTGAGGG	0.677																																					p.G840G													.	INTS1	145		0			c.G2520C																																									SO:0001819	synonymous_variant	26173	exon20			GGGGGGCCCCCTG	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.2520G>C	7.37:g.1527082C>G			104	0.0192307692	2		121	0.04	5	NM_001080453	126	0.02	2	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	CCDS47526.1																																																																																					0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323683.1				G	1527082	C	G	1527082	2	3	37	1	0	0	0	0	0	0	0	1	7790	726	26	5		5	INTS1	7	1527082	Silent	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10		1527082	157611581	17	2599											
FKBP14	55033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	30058694	30058696	+	In_Frame_Del	DEL	AGG	AGG	-																															ttggtccatttcgaatctccAggagatcaatattaaatatc																										TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	AGG	AGG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr7:30058694_30058696delAGG	ENST00000222803.5	-	3	568_570	c.393_395delCCT	c.(391-396)ctcctg>ctg	p.131_132LL>L	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	131	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						TCGAATCTCCAGGAGATCAATAT	0.369																																					p.132_132del													.	FKBP14	18		0			c.394_396del																																									SO:0001651	inframe_deletion	55033	exon3			ATCTCCAGGAGAT	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"EF-hand domain containing"	18625	protein-coding gene	gene with protein product		614505	"FK506 binding protein 14 (22 kDa)"			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.393_395delCCT	7.37:g.30058694_30058696delAGG	ENSP00000222803:p.Leu132del		65	0	0		157	0.15	24	NM_017946	59	0	0		In_Frame_Del	DEL	ENST00000222803.5	37	CCDS5423.1																																																																																					0.369	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214229.1		NM_017946		-	30058696	AGG	-	30058694	7	5	37	1	0	1	0	1	0	0	0	0	5917	188	7	0	248	0	FKBP14	7	30058694	In_Frame_Del	DEL	AGG	TCGA-2G-AAGS-01A-11D-A42Y-10	28531612	30058694	129079969	18	2600											
NCF1	653361	mdanderson.org	37	chr7	74202921	74202921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgtccatccgcaacgcGcacagcatccaccagcggtc	9	5	10	17	5	0	0	0	0	0	0	5	0	3	0	4	2	3	3	4	2	1	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr7:74202921G>A	ENST00000289473.4	+	10	994	c.924G>A	c.(922-924)gcG>gcA	p.A308A		NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	308	Arg/Lys-rich (highly basic).		A -> V (in dbSNP:rs13739).		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)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	TCCGCAACGCGCACAGCATCC	0.726																																					p.A308A													.	.			0			c.G924A												7	7	7					7																	74202921		2092	4095	6187	SO:0001819	synonymous_variant	653361	exon10			CAACGCGCACAGC	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.924G>A	7.37:g.74202921G>A			57	0	0		35	0.09	3	NM_000265	4	0	0	A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	ENST00000289473.4	37	CCDS34657.1																																																																																					0.726	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314560.1		NM_000265		A	74202921	G	A	74202921	2	1	37	1	0	0	0	0	0	0	0	1	10233	1074	38	1		1	NCF1	7	74202921	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	44144227	74202921	84935742	19	2601											
CTTNBP2	83992	bcgsc.ca	37	chr7	117407171	117407171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatcatgcacagtccgattGcacttgtctctcctttctgg	7	14	7	13	1	3	0	1	0	2	0	6	1	5	0	2	1	2	2	2	1	0	3			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr7:117407171G>A	ENST00000160373.3	-	9	2929	c.2838C>T	c.(2836-2838)tgC>tgT	p.C946C		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	946					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)		CAGTCCGATTGCACTTGTCTC	0.448																																					p.C946C													.	CTTNBP2	200		0			c.C2838T												185	154	165					7																	117407171		2203	4300	6503	SO:0001819	synonymous_variant	83992	exon9			CCGATTGCACTTG		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.2838C>T	7.37:g.117407171G>A			58	0	0		53	0.08	4	NM_033427	4	0	0	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258953	0.23051	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.49	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.4675	9.5342	0.39213	0.3134:0.0:0.6866:0.0	.	.	.	.	X	434	.	.	Q	-	1	0	CTTNBP2	117194407	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	1.337000	0.33862	0.344000	0.23847	0.561000	0.74099	CAA			0.448	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059201.4		NM_033427		A	117407171	G	A	117407171	2	1	37	1	0	0	0	0	0	0	0	1	4047	1311	46	2		2	CTTNBP2	7	117407171	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	43204250	117407171	41731492	20	2602											
CNTNAP2	26047	ucsc.edu	37	chr7	148112542	148112542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgattttcaccatcctgtGcaccctggtcttcctgatcc	5	14	8	14	0	2	2	1	2	1	0	5	2	5	2	5	2	1	1	5	2	0	3			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr7:148112542G>A	ENST00000361727.3	+	24	4346	c.3830G>A	c.(3829-3831)tGc>tAc	p.C1277Y	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.C336Y|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1277					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCATCCTGTGCACCCTGGTC	0.597										HNSCC(39;0.1)																											p.C1277Y													.	CNTNAP2	392		0			c.G3830A												89	70	77					7																	148112542		2203	4300	6503	SO:0001583	missense	26047	exon24			TCCTGTGCACCCT	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3830G>A	7.37:g.148112542G>A	ENSP00000354778:p.Cys1277Tyr		53	0	0		31	0.13	4	NM_014141	20	0	0	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509298	0.85282	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.75050	-0.9;-0.9	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	M	0.84219	2.685	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.88581	0.3136	10	0.72032	D	0.01	.	17.8137	0.88624	0.0:0.0:1.0:0.0	.	1277	Q9UHC6	CNTP2_HUMAN	Y	1277;336	ENSP00000354778:C1277Y;ENSP00000440732:C336Y	ENSP00000354778:C1277Y	C	+	2	0	CNTNAP2	147743475	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.697000	0.98697	2.534000	0.85438	0.655000	0.94253	TGC			0.597	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327668.1				A	148112542	G	A	148112542	3	1	37	1	0	0	0	0	1	0	0	0	3649	1319	46	2	3924	2	CNTNAP2	7	148112542	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	30705371	148112542	11026121	21	2603											
TMEM176B	28959	ucsc.edu	37	chr7	150489162	150489162	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaggggctgggagctctgGccacacaagtttcgaagacc	10	6	13	12	1	1	1	0	0	1	1	2	3	1	2	3	4	1	3	3	4	2	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr7:150489162G>T	ENST00000447204.2	-	6	1074	c.702C>A	c.(700-702)ggC>ggA	p.G234G	TMEM176B_ENST00000450753.2_Silent_p.G197G|TMEM176B_ENST00000492607.1_Silent_p.G234G|TMEM176B_ENST00000434545.1_Silent_p.G234G|TMEM176B_ENST00000326442.5_Silent_p.G234G|TMEM176B_ENST00000429904.2_Silent_p.G234G	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	234					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)		GGGAGCTCTGGCCACACAAGT	0.597																																					p.G234G													.	TMEM176B	36		0			c.C702A												122	101	108					7																	150489162		2203	4300	6503	SO:0001819	synonymous_variant	28959	exon6			GCTCTGGCCACAC	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.702C>A	7.37:g.150489162G>T			62	0	0		37	0.11	4	NM_014020	60	0	0	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	ENST00000447204.2	37	CCDS5908.1																																																																																					0.597	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349204.1		NM_014020		T	150489162	G	T	150489162	2	4	37	1	0	0	0	0	0	0	0	1	16116	1190	42	2		2	TMEM176B	7	150489162	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	2376620	150489162	8649501	22	2604											
ZFHX4	79776	broad.mit.edu	37	chr8	77617508	77617508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagctcagcagagcagccGctggggattacccaaatgcc	10	6	12	13	2	1	1	1	0	0	1	2	3	1	2	3	2	6	4	3	2	2	1	rs368515394		TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr8:77617508G>A	ENST00000521891.2	+	2	1633	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P	ZFHX4_ENST00000050961.6_Silent_p.P395P|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.P395P|ZFHX4_ENST00000518282.1_Silent_p.P395P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	395					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)			CAGAGCAGCCGCTGGGGATTA	0.517										HNSCC(33;0.089)			G|||	1	0.000199681	8e-04	0	5008	,	,		17472	0		0	False		,,,				2504	0				p.P395P													ZFHX4,NS,carcinoma,0,2	ZFHX4	878	2	0			c.G1185A							G		5,3707		0,5,1851	31	31	31		1185	1.4	1	8		31	0,8202		0,0,4101	no	coding-synonymous	ZFHX4	NM_024721.4		0,5,5952	AA,AG,GG		0.0,0.1347,0.042		395/3617	77617508	5,11909	1856	4101	5957	SO:0001819	synonymous_variant	79776	exon2			GCAGCCGCTGGGG		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.1185G>A	8.37:g.77617508G>A			76	0.0263157895	2		111	0.03	3	NM_024721	3	0	0	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																					0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379197.2		NM_024721		A	77617508	G	A	77617508	2	1	37	1	0	0	0	0	0	0	0	1	17658	1074	38	1		1	ZFHX4	8	77617508	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		77617508	68746514	23	2605											
COL14A1	7373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	121220569	121220569	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaatctatgcccacactgcTagtgaaggcctacggggaac	11	7	11	12	1	1	1	0	1	1	0	1	2	1	2	2	3	4	2	2	3	6	3			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr8:121220569T>C	ENST00000297848.3	+	11	1560	c.1290T>C	c.(1288-1290)gcT>gcC	p.A430A	COL14A1_ENST00000309791.4_Silent_p.A430A|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.A335A|COL14A1_ENST00000537875.1_Silent_p.A430A	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)			CCCACACTGCTAGTGAAGGCC	0.408																																					p.A430A													.	.			0			c.T1290C												98	90	93					8																	121220569		2203	4300	6503	SO:0001819	synonymous_variant	7373	exon11			CACTGCTAGTGAA		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.1290T>C	8.37:g.121220569T>C			45	0	0		88	0.15	13	NM_021110	74	0.2	15		Silent	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251489	0.22880	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.01	-0.599	0.11645	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8253	0.18550	0.1381:0.4583:0.0:0.4036	.	.	.	.	Q	187	.	.	X	+	1	0	COL14A1	121289750	0.078000	0.21339	0.998000	0.56505	0.966000	0.64601	-0.857000	0.04286	0.034000	0.15491	-0.441000	0.05720	TAG			0.408	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313657.2		NM_021110		C	121220569	T	C	121220569	2	2	37	1	0	0	0	0	0	0	0	1	3673	1509	53	4		4	COL14A1	8	121220569	Silent	SNP	T	TCGA-2G-AAGS-01A-11D-A42Y-10	43603061	121220569	25143453	24	2606											
OPLAH	26873	broad.mit.edu	37	chr8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgcctggcgcccgcaggGcctccgtcaccgctggatgg	3	7	14	17	4	1	0	1	0	0	0	2	1	2	1	6	4	1	2	6	4	0	1	rs186909122		TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900					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)			CGCCCGCAGGGCCTCCGTCAC	0.647																																					p.A900D													.	OPLAH	78		0			c.C2699A												44	52	50					8																	145108284		2081	4210	6291	SO:0001583	missense	26873	exon20			CGCAGGGCCTCCG	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.2699C>A	8.37:g.145108284G>T	ENSP00000475943:p.Ala900Asp		74	0.0135135135	1		89	0.07	6	NM_017570	13	0	0	A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		.	.	.	.	.	.	.	.	.	.	G	14.54	2.564475	0.45694	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	3.44	0.39384	.	0.106428	0.64402	D	0.000007	T	0.48132	0.1483	.	.	.	0.52099	D	0.999941	B	0.18863	0.031	B	0.25405	0.06	T	0.61317	-0.7087	7	0.62326	D	0.03	.	10.7882	0.46417	0.1156:0.0:0.8844:0.0	.	900	O14841	OPLA_HUMAN	D	900	.	ENSP00000412071:A900D	A	-	2	0	OPLAH	145180272	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.294000	0.51787	2.069000	0.61940	0.448000	0.29417	GCC			0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_017570		T	145108284	G	T	145108284	3	4	37	1	0	0	0	0	1	0	0	0	10893	1203	42	2	1201	2	OPLAH	8	145108284	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	23887715	145108284	1255738	25	2607											
FAM120A	23196	mdanderson.org	37	chr9	96214208	96214208	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccgccatgggcgtgcAgggcttccaggactacatcg	6	6	14	15	5	0	0	0	0	0	0	2	1	1	1	4	3	2	2	4	3	1	2			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr9:96214208A>T	ENST00000277165.6	+	1	205	c.11A>T	c.(10-12)cAg>cTg	p.Q4L	FAM120A_ENST00000340893.4_Missense_Mutation_p.Q4L|FAM120A_ENST00000333936.5_Missense_Mutation_p.Q4L|FAM120A_ENST00000375389.3_Missense_Mutation_p.Q4L|FAM120AOS_ENST00000423591.1_5'Flank|FAM120AOS_ENST00000375412.5_Intron|FAM120AOS_ENST00000479094.1_5'Flank	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	4						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGGGCGTGCAGGGCTTCCAG	0.821																																					p.Q4L													.	.			0			c.A11T												1	1	1					9																	96214208		706	1724	2430	SO:0001583	missense	23196	exon1			GCGTGCAGGGCTT	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.11A>T	9.37:g.96214208A>T	ENSP00000277165:p.Gln4Leu		37	0	0		14	0.21	3	NM_014612	2	0	0	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898533	0.72639	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.53857	0.6;1.24;1.22;1.25	2.76	1.57	0.23409	.	0.000000	0.37012	U	0.002295	T	0.62356	0.2421	L	0.59436	1.845	0.46631	D	0.999134	P;B	0.51449	0.945;0.13	D;B	0.67900	0.954;0.075	T	0.59968	-0.7354	10	0.87932	D	0	.	7.3255	0.26553	0.8834:0.0:0.1165:0.0	.	4;4	Q9NZB2;Q9NZB2-2	F120A_HUMAN;.	L	4	ENSP00000364538:Q4L;ENSP00000277165:Q4L;ENSP00000334918:Q4L;ENSP00000344698:Q4L	ENSP00000277165:Q4L	Q	+	2	0	FAM120A	95254029	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.854000	0.62918	0.149000	0.19098	0.358000	0.22013	CAG			0.821	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053160.2		NM_014612		T	96214208	A	T	96214208	3	4	37	1	0	0	0	0	1	0	0	0	5425	188	7	5	13	5	FAM120A	9	96214208	Missense_Mutation	SNP	A	TCGA-2G-AAGS-01A-11D-A42Y-10		96214208	44999223	26	2608											
COL15A1	1306	bcgsc.ca	37	chr9	101798650	101798650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccctgggccgagagggcCacctgggcacatcaaggtct	8	5	13	15	1	2	1	1	0	1	1	2	2	2	1	5	4	0	1	5	4	1	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr9:101798650C>A	ENST00000375001.3	+	21	2804	c.2381C>A	c.(2380-2382)cCa>cAa	p.P794Q		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	794	Triple-helical region 3 (COL3).				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)				CCGAGAGGGCCACCTGGGCAC	0.502																																					p.P794Q													.	COL15A1	211		0			c.C2381A												86	92	90					9																	101798650		2203	4300	6503	SO:0001583	missense	1306	exon21			GAGGGCCACCTGG	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.2381C>A	9.37:g.101798650C>A	ENSP00000364140:p.Pro794Gln		103	0	0		55	0.07	4	NM_001855	67	0	0	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849348	0.32699	.	.	ENSG00000204291	ENST00000375001	D	0.90620	-2.7	5.39	2.55	0.30701	.	0.055575	0.64402	D	0.000001	D	0.92231	0.7536	M	0.80332	2.49	0.09310	N	0.999993	D	0.64830	0.994	P	0.58721	0.844	D	0.83425	0.0035	10	0.17832	T	0.49	-0.1616	7.7783	0.29049	0.0:0.7372:0.0:0.2628	.	794	P39059	COFA1_HUMAN	Q	794	ENSP00000364140:P794Q	ENSP00000364140:P794Q	P	+	2	0	COL15A1	100838471	0.218000	0.23608	0.067000	0.19924	0.969000	0.65631	1.623000	0.37008	0.347000	0.23924	-0.136000	0.14681	CCA			0.502	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053386.3		NM_001855		A	101798650	C	A	101798650	3	1	37	1	0	0	0	0	1	0	0	0	3674	594	21	3	2463	3	COL15A1	9	101798650	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	5584442	101798650	39414781	27	2609											
TTC16	158248	mdanderson.org	37	chr9	130487072	130487072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacctggcctttgccgaGgcggactaccagcaggcgct	7	6	14	14	3	0	0	0	0	0	0	0	2	0	1	4	5	4	3	4	5	2	2			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr9:130487072G>T	ENST00000373289.3	+	9	1235	c.1155G>T	c.(1153-1155)gaG>gaT	p.E385D	PTRH1_ENST00000419060.1_5'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000429848.1_5'UTR|TTC16_ENST00000393748.4_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	385										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CCTTTGCCGAGGCGGACTACC	0.687																																					p.E385D													.	.			0			c.G1155T												14	14	14					9																	130487072		2194	4280	6474	SO:0001583	missense	158248	exon9			TGCCGAGGCGGAC	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.1155G>T	9.37:g.130487072G>T	ENSP00000362386:p.Glu385Asp		91	0	0		45	0.07	3	NM_144965	0		0	B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592016	0.46214	.	.	ENSG00000167094	ENST00000373289	T	0.60171	0.21	4.86	2.82	0.32997	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.261284	0.27504	N	0.019061	T	0.53238	0.1784	L	0.46157	1.445	0.80722	D	1	P;P	0.43938	0.822;0.822	P;P	0.49528	0.614;0.614	T	0.56147	-0.8027	10	0.66056	D	0.02	-33.6883	4.4306	0.11525	0.089:0.151:0.6051:0.155	.	372;385	B4DZ42;Q8NEE8	.;TTC16_HUMAN	D	385	ENSP00000362386:E385D	ENSP00000362386:E385D	E	+	3	2	TTC16	129526893	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	0.972000	0.29409	2.250000	0.74265	0.313000	0.20887	GAG			0.687	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054224.1		NM_144965		T	130487072	G	T	130487072	3	4	37	1	0	0	0	0	1	0	0	0	16707	991	35	3	1189	3	TTC16	9	130487072	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	28688422	130487072	10726359	28	2610											
FPGS	2356	mdanderson.org	37	chr9	130572100	130572100	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcgctgcagggccgcGagaggccgagcgggtgaggg	6	2	22	11	5	0	2	0	1	0	1	0	4	0	2	3	5	2	2	3	5	0	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr9:130572100G>T	ENST00000373247.2	+	12	1248	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*	FPGS_ENST00000373245.1_Silent_p.A350A|FPGS_ENST00000373225.3_Nonsense_Mutation_p.E350*|FPGS_ENST00000393706.2_Nonsense_Mutation_p.E374*|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	400					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GCAGGGCCGCGAGAGGCCGAG	0.781																																					p.E400X													.	.			0			c.G1198T												2	3	3					9																	130572100		785	1873	2658	SO:0001587	stop_gained	2356	exon12			GGCCGCGAGAGGC		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1198G>T	9.37:g.130572100G>T	ENSP00000362344:p.Glu400*		19	0	0		9	0.22	2	NM_004957	12	0	0	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Nonsense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463500	0.84425	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	.	.	.	3.99	-0.659	0.11424	.	0.582613	0.18200	N	0.148544	.	.	.	.	.	.	0.23174	N	0.99817	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-11.1996	5.8095	0.18457	0.1993:0.3252:0.4755:0.0	.	.	.	.	X	400;374;350	.	ENSP00000362322:E350X	E	+	1	0	FPGS	129611921	0.008000	0.16893	0.000000	0.03702	0.018000	0.09664	0.262000	0.18460	-0.558000	0.06118	0.305000	0.20034	GAG			0.781	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054251.1				T	130572100	G	T	130572100	4	4	37	1	0	0	0	0	0	1	0	0	6049	1059	37	1	1244	1	FPGS	9	130572100	Nonsense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	85028	130572100	10641331	29	2611											
SEC16A	9919	bcgsc.ca	37	chr9	139355646	139355646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtcatgactcgggcGtgtgtccggctgtccatctt	4	13	12	12	3	2	1	1	1	1	0	5	1	4	1	3	3	1	1	3	3	1	2	rs375805476		TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr9:139355646G>A	ENST00000371706.3	-	11	4473	c.4440C>T	c.(4438-4440)caC>caT	p.H1480H	SEC16A_ENST00000431893.2_Silent_p.H1480H|SEC16A_ENST00000290037.6_Silent_p.H1480H|SEC16A_ENST00000313050.7_Silent_p.H1658H			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1480					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)		TGACTCGGGCGTGTGTCCGGC	0.617																																					p.H1658H													.	SEC16A	249		0			c.C4974T							G		0,4236		0,0,2118	71	78	76		4974	-3.8	0.9	9		76	1,8459		0,1,4229	no	coding-synonymous	SEC16A	NM_014866.1		0,1,6347	AA,AG,GG		0.0118,0.0,0.0079		1658/2358	139355646	1,12695	2118	4230	6348	SO:0001819	synonymous_variant	9919	exon13			TCGGGCGTGTGTC	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	ENST00000371706.3:c.4440C>T	9.37:g.139355646G>A			99	0	0		59	0.07	4	NM_014866	57	0	0	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37																																																																																						0.617	SEC16A-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000055077.1		XM_088459		A	139355646	G	A	139355646	2	1	37	1	0	0	0	0	0	0	0	1	14009	1136	40	1		1	SEC16A	9	139355646	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	8783546	139355646	1857785	30	2612											
EBF3	253738	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	131676058	131676058	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgcatatctcgagggtTgcctgcattcttcaaacagt	8	13	8	12	2	4	0	1	0	3	0	6	1	4	0	2	1	3	3	2	1	2	4			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr10:131676058T>G	ENST00000355311.5	-	7	682	c.610A>C	c.(610-612)Aac>Cac	p.N204H	EBF3_ENST00000368648.3_Missense_Mutation_p.N204H			Q9H4W6	COE3_HUMAN	early B-cell factor 3	204	Interaction with DNA. {ECO:0000250}.				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)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCTCGAGGGTTGCCTGCATTC	0.363																																					p.N204H													.	.			0			c.A610C												119	106	111					10																	131676058		2203	4300	6503	SO:0001583	missense	253738	exon7			GAGGGTTGCCTGC		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.610A>C	10.37:g.131676058T>G	ENSP00000347463:p.Asn204His		46	0	0		72	0.08	6	NM_001005463	27	0.04	1	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37		.	.	.	.	.	.	.	.	.	.	T	23.7	4.444366	0.83993	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.61392	0.11;0.22	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.83953	2.67	0.80722	D	1	P	0.34837	0.472	B	0.43950	0.437	T	0.74481	-0.3651	10	0.87932	D	0	-21.4423	14.8999	0.70670	0.0:0.0:0.0:1.0	.	204	Q9H4W6-2	.	H	204	ENSP00000347463:N204H;ENSP00000357637:N204H	ENSP00000347463:N204H	N	-	1	0	EBF3	131566048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	1.915000	0.55452	0.460000	0.39030	AAC			0.363	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000051015.2		NM_001005463		G	131676058	T	G	131676058	3	3	37	1	0	0	0	0	1	0	0	0	4887	1812	63	4	1085	4	EBF3	10	131676058	Missense_Mutation	SNP	T	TCGA-2G-AAGS-01A-11D-A42Y-10		131676058	3858689	31	2613											
MUC2	4583	mdanderson.org	37	chr11	1092971	1092971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacggtgaccccaaccccaaCacccaccggcacacagaccc	12	2	6	21	2	0	2	0	1	0	1	0	2	0	2	7	2	3	1	7	2	3	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr11:1092971C>T	ENST00000441003.2	+	30	4817	c.4790C>T	c.(4789-4791)aCa>aTa	p.T1597I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccaaccccaacacccaccggc	0.632																																					p.T1597I													MUC2_ENST00000441003,NS,carcinoma,0,1	MUC2_ENST00000441003	0	1	0			c.C4790T												47	82	70					11																	1092971		1782	3233	5015	SO:0001583	missense	4583	exon30			CCCCAACACCCAC	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.4790C>T	11.37:g.1092971C>T	ENSP00000415183:p.Thr1597Ile		40	0	0		27	0.11	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.395	-0.338980	0.05243	.	.	ENSG00000198788	ENST00000441003	T	0.14640	2.49	1.75	0.762	0.18454	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.41520	-0.9504	8	0.22109	T	0.4	.	4.3366	0.11089	0.0:0.6142:0.0:0.3858	.	1597	E7EUV1	.	I	1597	ENSP00000415183:T1597I	ENSP00000415183:T1597I	T	+	2	0	MUC2	1082971	0.029000	0.19370	0.001000	0.08648	0.134000	0.20937	1.107000	0.31110	0.104000	0.17725	0.121000	0.15741	ACA			0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1092971	C	T	1092971	3	4	37	1	0	0	0	0	1	0	0	0	9991	478	17	3	4908	3	MUC2	11	1092971	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10		1092971	133913545	32	2614											
CDKN1C	1028	mdanderson.org	37	chr11	2906574	2906574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgttcagctcggccaggCgggcctgcagctcgcggctc	3	6	16	16	6	1	0	1	0	0	0	4	0	1	0	2	5	3	5	2	5	0	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr11:2906574C>T	ENST00000414822.3	-	1	537	c.146G>A	c.(145-147)cGc>cAc	p.R49H	CDKN1C_ENST00000440480.2_Missense_Mutation_p.R38H|CDKN1C_ENST00000430149.2_Missense_Mutation_p.R49H|CDKN1C_ENST00000380725.1_Missense_Mutation_p.R38H|CDKN1C_ENST00000313407.6_Missense_Mutation_p.R38H	NM_000076.2	NP_000067.1	P49918	CDN1C_HUMAN	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	49					adrenal gland development (GO:0030325)|aging (GO:0007568)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|digestive system development (GO:0055123)|embryonic placenta morphogenesis (GO:0060669)|genetic imprinting (GO:0071514)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|myeloid cell differentiation (GO:0030099)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of kinase activity (GO:0033673)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|skeletal system development (GO:0001501)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCGGCCAGGCGGGCCTGCAG	0.697																																					p.R49H	GBM(111;59 1151 2497 5746 16112 18241 29216)												.	.			0			c.G146A												17	14	15					11																	2906574		2181	4285	6466	SO:0001583	missense	1028	exon1			GCCAGGCGGGCCT	D64137	CCDS7738.1, CCDS44519.1	11p15.5	2014-09-17	2004-02-13		ENSG00000129757	ENSG00000129757			1786	protein-coding gene	gene with protein product		600856	"Beckwith-Wiedemann syndrome"	BWCR, BWS		7729684	Standard	NM_000076		Approved	P57, KIP2	uc001lws.4	P49918	OTTHUMG00000010040	ENST00000414822.3:c.146G>A	11.37:g.2906574C>T	ENSP00000413720:p.Arg49His		46	0	0		24	0.08	2	NM_000076	51	0	0		Missense_Mutation	SNP	ENST00000414822.3	37	CCDS7738.1	.	.	.	.	.	.	.	.	.	.	c	12.87	2.068563	0.36470	.	.	ENSG00000129757	ENST00000380725;ENST00000414822;ENST00000440480;ENST00000313407;ENST00000430149	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	2.49	0.326	0.15908	.	.	.	.	.	T	0.80037	0.4550	N	0.20685	0.6	0.19300	N	0.999974	D;D	0.89917	1.0;0.999	D;D	0.71656	0.945;0.974	T	0.66464	-0.5917	9	0.45353	T	0.12	.	3.9791	0.09487	0.0:0.5363:0.2321:0.2316	.	38;49	A6NK88;P49918	.;CDN1C_HUMAN	H	38;49;38;38;49	ENSP00000370101:R38H;ENSP00000413720:R49H;ENSP00000411257:R38H;ENSP00000321019:R38H;ENSP00000411552:R49H	ENSP00000321019:R38H	R	-	2	0	CDKN1C	2863150	0.999000	0.42202	0.999000	0.59377	0.966000	0.64601	1.193000	0.32162	0.333000	0.23563	0.298000	0.19748	CGC			0.697	CDKN1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000027774.2		NM_000076		T	2906574	C	T	2906574	3	4	37	1	0	0	0	0	1	0	0	0	3162	768	27	1	812	1	CDKN1C	11	2906574	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	1813603	2906574	132099942	33	2615											
TTC17	55761	ucsc.edu	37	chr11	43465665	43465665	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatcataagaaaactcctggGaaaaaagtagaaacaggtca	20	6	9	6	0	2	2	2	0	0	2	3	4	3	3	1	2	2	1	1	2	8	2	rs377088555		TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr11:43465665G>A	ENST00000039989.4	+	18	2585	c.2571G>A	c.(2569-2571)ggG>ggA	p.G857G	TTC17_ENST00000299240.6_Silent_p.G914G|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	857					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AAACTCCTGGGAAAAAAGTAG	0.433																																					p.G857G													.	TTC17	112		0			c.G2571A												79	78	78					11																	43465665		2203	4300	6503	SO:0001819	synonymous_variant	55761	exon18			TCCTGGGAAAAAA	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2571G>A	11.37:g.43465665G>A			167	0	0		151	0.01	1	NM_018259	63	0.13	8	G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	CCDS31466.1																																																																																					0.433	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389577.2		NM_018259		A	43465665	G	A	43465665	2	1	37	1	0	0	0	0	0	0	0	1	16708	1161	41	3		3	TTC17	11	43465665	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	40559091	43465665	91540851	34	2616											
FADS1	3992	mdanderson.org	37	chr11	61584183	61584183	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccaggtgaagtagcgcggGgtaggtccctgagccgcggt	6	7	17	11	4	0	2	0	2	0	0	2	2	2	2	3	5	2	2	3	5	3	2			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr11:61584183G>T	ENST00000350997.7	-	1	451	c.219C>A	c.(217-219)acC>acA	p.T73T	FADS2_ENST00000574708.1_Intron|FADS2_ENST00000522056.1_Intron|FADS1_ENST00000542506.1_5'Flank|FADS2_ENST00000257261.6_Intron|MIR1908_ENST00000410394.1_RNA|FADS2_ENST00000517839.1_Intron|FADS2_ENST00000522639.1_Intron|FADS1_ENST00000541683.1_5'Flank|FADS1_ENST00000433932.1_5'Flank	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	16	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				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)	p.T16T(1)		central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTAGCGCGGGGTAGGTCCCT	0.711																																					p.T73T													FADS1,brain,glioma,0,1	FADS1	0	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C219A												7	8	8					11																	61584183		1876	4067	5943	SO:0001819	synonymous_variant	3992	exon1			GCGCGGGGTAGGT		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.219C>A	11.37:g.61584183G>T			88	0	0		42	0.07	3	NM_013402	11	0	0	A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	G	8.885	0.952479	0.18431	.	.	ENSG00000149485	ENST00000491310	.	.	.	3.08	-3.13	0.05266	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	-32.1774	1.0184	0.01513	0.1941:0.1287:0.2992:0.3781	.	.	.	.	H	23	.	.	P	-	2	0	FADS1	61340759	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.068000	0.03447	-0.641000	0.05487	-0.367000	0.07326	CCC			0.711	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347648.2		NM_013402		T	61584183	G	T	61584183	2	4	37	1	0	0	0	0	0	0	0	1	5375	1219	43	3		3	FADS1	11	61584183	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	18118518	61584183	73422333	35	2617											
DPP3	10072	mdanderson.org	37	chr11	66276689	66276689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgcccgattctggaaGggccccagtgaggccccatc	7	6	13	15	2	1	1	0	1	1	0	2	4	1	2	6	3	1	0	6	3	1	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr11:66276689G>T	ENST00000360510.2	+	18	2246	c.2181G>T	c.(2179-2181)aaG>aaT	p.K727N	BBS1_ENST00000393994.2_5'Flank|DPP3_ENST00000541961.1_Missense_Mutation_p.K727N|BBS1_ENST00000318312.7_5'Flank|DPP3_ENST00000531863.1_Missense_Mutation_p.K747N|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R21M|DPP3_ENST00000453114.1_Missense_Mutation_p.K727N|DPP3_ENST00000530165.1_Missense_Mutation_p.K697N|DPP3_ENST00000532677.1_Missense_Mutation_p.K746N|BBS1_ENST00000455748.2_5'Flank|BBS1_ENST00000537537.1_5'Flank			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	727					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						GATTCTGGAAGGGCCCCAGTG	0.597																																					p.K727N													.	.			0			c.G2181T												29	27	28					11																	66276689		2200	4295	6495	SO:0001583	missense	10072	exon18			CTGGAAGGGCCCC	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.2181G>T	11.37:g.66276689G>T	ENSP00000353701:p.Lys727Asn		61	0	0		56	0.05	3	NM_005700	108	0	0	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.79|11.79	1.743883|1.743883	0.30865|0.30865	.|.	.|.	ENSG00000254986|ENSG00000256349	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422|ENST00000419755	T;T;T;T;T;T|D	0.19250|0.97138	2.16;2.17;2.18;2.18;2.18;2.18|-4.26	5.09|5.09	3.12|3.12	0.35913|0.35913	.|.	0.452030|.	0.24757|.	N|.	0.035859|.	D|D	0.91994|0.91994	0.7464|0.7464	N|N	0.08118|0.08118	0|0	0.21445|0.21445	N|N	0.999682|0.999682	B;B|P	0.26258|0.37276	0.145;0.026|0.589	B;B|B	0.26969|0.41036	0.075;0.021|0.346	D|D	0.86253|0.86253	0.1650|0.1650	10|9	0.87932|0.62326	D|D	0|0.03	.|.	7.4167|7.4167	0.27048|0.27048	0.2147:0.0:0.7853:0.0|0.2147:0.0:0.7853:0.0	.|.	746;727|21	G3V1D3;Q9NY33|Q8NFJ9-2	.;DPP3_HUMAN|.	N|M	747;746;727;727;727;697;625;307|21	ENSP00000432782:K747N;ENSP00000435284:K746N;ENSP00000353701:K727N;ENSP00000389943:K727N;ENSP00000440502:K727N;ENSP00000436941:K697N|ENSP00000398526:R21M	ENSP00000309957:K307N|ENSP00000398526:R21M	K|R	+|+	3|2	2|0	DPP3|CTD-3074O7.11	66033265|66033265	0.666000|0.666000	0.27475|0.27475	0.957000|0.957000	0.39632|0.39632	0.554000|0.554000	0.35429|0.35429	1.234000|1.234000	0.32660|0.32660	0.492000|0.492000	0.27815|0.27815	-0.377000|-0.377000	0.06932|0.06932	AAG|AGG			0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393424.2				T	66276689	G	T	66276689	3	4	37	1	0	0	0	0	1	0	0	0	4733	991	35	3	2247	3	DPP3	11	66276689	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	4692506	66276689	68729827	36	2618											
TMPRSS13	84000	mdanderson.org	37	chr11	117780545	117780545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcagtgggcggcagtgAgcacccactgggcgtcaatg	10	5	16	10	2	1	2	1	1	0	1	1	2	1	2	1	3	2	3	1	3	2	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr11:117780545A>G	ENST00000430170.2	-	8	1172	c.1085T>C	c.(1084-1086)cTc>cCc	p.L362P	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.L362P|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.L362P|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.L362P|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.L327P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	362	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGCGGCAGTGAGCACCCACTG	0.622																																					p.L362P													.	.			0			c.T1085C												46	53	50					11																	117780545		2107	4250	6357	SO:0001583	missense	84000	exon8			GCAGTGAGCACCC	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1085T>C	11.37:g.117780545A>G	ENSP00000387702:p.Leu362Pro		57	0	0		25	0.12	3	NM_001206790	5	0	0	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981541	0.53827	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	T;T;T;T;D	0.92199	-1.2;-1.2;-1.2;-1.2;-2.99	4.51	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.253869	0.27941	N	0.017226	D	0.96870	0.8978	H	0.96943	3.91	0.80722	D	1	P;P;D;P	0.76494	0.678;0.782;0.999;0.628	B;B;D;B	0.72338	0.345;0.187;0.977;0.317	D	0.96823	0.9605	10	0.87932	D	0	.	8.4031	0.32599	0.9103:0.0:0.0897:0.0	.	357;357;357;362	E9PHM4;Q9BYE2-4;Q9BYE2;E9PRA0	.;.;TMPSD_HUMAN;.	P	327;357;362;362;362;362	ENSP00000435813:L327P;ENSP00000434279:L362P;ENSP00000387702:L362P;ENSP00000394114:L362P;ENSP00000436502:L362P	ENSP00000337113:L357P	L	-	2	0	TMPRSS13	117285755	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.917000	0.75782	1.884000	0.54569	0.459000	0.35465	CTC			0.622	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000392318.1		NM_032046		G	117780545	A	G	117780545	3	3	37	1	0	0	0	0	1	0	0	0	16268	304	11	4	642	4	TMPRSS13	11	117780545	Missense_Mutation	SNP	A	TCGA-2G-AAGS-01A-11D-A42Y-10	51503856	117780545	17225971	37	2619											
ARHGEF12	23365	mdanderson.org	37	chr11	120347433	120347433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatttatgaactggtggCacagacagtttctgaaaaga	14	11	10	6	0	2	5	1	2	1	3	2	5	2	5	0	2	1	2	0	2	4	3			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr11:120347433C>T	ENST00000397843.2	+	34	3507	c.3341C>T	c.(3340-3342)gCa>gTa	p.A1114V	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.A1095V|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.A1011V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1114	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAACTGGTGGCACAGACAGTT	0.343			T	MLL	AML																																p.A1114V				Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.			0			c.C3341T												119	114	115					11																	120347433		1868	4110	5978	SO:0001583	missense	23365	exon34			TGGTGGCACAGAC	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3341C>T	11.37:g.120347433C>T	ENSP00000380942:p.Ala1114Val		53	0	0		82	0.06	5	NM_015313	36	0	0	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459040	0.96240	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.71103	-0.54;-0.54;-0.54	5.1	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.39759	U	0.001275	D	0.86719	0.6000	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.89017	0.3432	10	0.87932	D	0	-15.885	18.8774	0.92343	0.0:1.0:0.0:0.0	.	1011;1095;1114	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	V	1114;1095;1011	ENSP00000380942:A1114V;ENSP00000349056:A1095V;ENSP00000432984:A1011V	ENSP00000349056:A1095V	A	+	2	0	ARHGEF12	119852643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.510000	0.84645	0.563000	0.77884	GCA			0.343	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388052.1		NM_015313		T	120347433	C	T	120347433	3	4	37	1	0	0	0	0	1	0	0	0	897	710	25	2	3475	2	ARHGEF12	11	120347433	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	2566888	120347433	14659083	38	2620											
GRIN2B	2904	broad.mit.edu	37	chr12	13717472	13717472	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttggccgtgcgcagcagGcgcaggatgttggagtgtgt	5	11	17	8	3	1	0	0	0	1	0	1	2	1	2	1	4	2	4	1	4	0	3	rs531269037		TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr12:13717472G>T	ENST00000609686.1	-	13	2909	c.2700C>A	c.(2698-2700)cgC>cgA	p.R900R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	900					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)	TGCGCAGCAGGCGCAGGATGT	0.577																																					p.R900R													GRIN2B,right_upper_lobe,carcinoma,-2,1	GRIN2B	303	1	0			c.C2700A												147	135	139					12																	13717472		2203	4300	6503	SO:0001819	synonymous_variant	2904	exon13			CAGCAGGCGCAGG		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.2700C>A	12.37:g.13717472G>T			95	0	0		136	0.03	4	NM_000834	0		0	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																					0.577	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268014.2				T	13717472	G	T	13717472	2	4	37	1	0	0	0	0	0	0	0	1	6795	1190	42	2		2	GRIN2B	12	13717472	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		13717472	120134423	39	2621											
RARG	5916	mdanderson.org	37	chr12	53609159	53609159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccttgttgatgatacaGtttttgtcgcggtgacacgt	7	15	11	8	3	1	3	1	3	0	0	2	3	1	3	1	1	1	2	1	1	1	5			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr12:53609159G>T	ENST00000425354.2	-	5	880	c.393C>A	c.(391-393)aaC>aaA	p.N131K	RARG_ENST00000543726.1_Missense_Mutation_p.N109K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.N59K|RARG_ENST00000394426.1_Missense_Mutation_p.N131K|RARG_ENST00000338561.5_Missense_Mutation_p.N120K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	131					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGATGATACAGTTTTTGTCGC	0.532																																					p.N131K													.	.			0			c.C393A												260	201	221					12																	53609159		2203	4300	6503	SO:0001583	missense	5916	exon5			GATACAGTTTTTG	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.393C>A	12.37:g.53609159G>T	ENSP00000388510:p.Asn131Lys		114	0.0087719298	1		110	0.05	5	NM_000966	25	0	0	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	8.695	0.908346	0.17833	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.96992	-4.02;-4.02;-4.02;-4.02;-4.2	4.45	2.62	0.31277	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.96144	0.8743	L	0.46819	1.47	0.58432	D	0.999995	B;B;D;B	0.67145	0.094;0.449;0.996;0.04	B;B;D;B	0.67382	0.108;0.372;0.951;0.074	D	0.94029	0.7299	10	0.38643	T	0.18	.	9.4511	0.38727	0.177:0.0:0.823:0.0	.	168;109;131;120	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	K	131;131;59;120;109;168	ENSP00000388510:N131K;ENSP00000377947:N131K;ENSP00000332695:N59K;ENSP00000343698:N120K;ENSP00000444335:N109K	ENSP00000332695:N59K	N	-	3	2	RARG	51895426	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.321000	0.51999	0.625000	0.30304	-0.218000	0.12543	AAC			0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000109404.2		NM_000966		T	53609159	G	T	53609159	3	4	37	1	0	0	0	0	1	0	0	0	13077	1020	36	3	995	3	RARG	12	53609159	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	39891687	53609159	80242736	40	2622											
POSTN	10631	mdanderson.org	37	chr13	38145583	38145583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttcaattttgacttttGttagtgtgggtcctgggaca	7	16	10	8	0	1	1	1	1	0	0	2	2	2	2	2	2	0	1	2	2	2	6			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr13:38145583G>T	ENST00000379747.4	-	18	2219	c.2102C>A	c.(2101-2103)aCa>aAa	p.T701K	POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379743.4_Missense_Mutation_p.T674K|POSTN_ENST00000541179.1_Missense_Mutation_p.T674K|POSTN_ENST00000379749.4_Missense_Mutation_p.T701K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	701					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)		TTTGACTTTTGTTAGTGTGGG	0.368																																					p.T701K													.	.			0			c.C2102A												190	169	176					13																	38145583		2202	4299	6501	SO:0001583	missense	10631	exon18			ACTTTTGTTAGTG	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.2102C>A	13.37:g.38145583G>T	ENSP00000369071:p.Thr701Lys		96	0.0208333333	2		82	0.06	5	NM_006475	207	0	0	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	7.627	0.677982	0.14841	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743	D;D;D;D	0.94046	-3.29;-3.17;-3.18;-3.34	4.95	3.19	0.36642	.	0.168195	0.52532	D	0.000070	D	0.89729	0.6799	L	0.59436	1.845	0.39419	D	0.966892	B;P;B	0.35575	0.025;0.51;0.012	B;B;B	0.32864	0.016;0.154;0.012	D	0.86610	0.1872	10	0.38643	T	0.18	-3.7446	10.231	0.43256	0.072:0.0:0.7914:0.1366	.	674;674;701	B1ALD8;Q15063-3;Q15063	.;.;POSTN_HUMAN	K	674;701;701;674	ENSP00000437959:T674K;ENSP00000369073:T701K;ENSP00000369071:T701K;ENSP00000369067:T674K	ENSP00000369067:T674K	T	-	2	0	POSTN	37043583	1.000000	0.71417	0.074000	0.20217	0.090000	0.18270	4.408000	0.59761	0.742000	0.32697	-1.078000	0.02229	ACA			0.368	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000044566.2		NM_006475		T	38145583	G	T	38145583	3	4	37	1	0	0	0	0	1	0	0	0	12276	1377	48	3	432	3	POSTN	13	38145583	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		38145583	77024295	41	2623											
SQRDL	58472	mdanderson.org	37	chr15	45980603	45980603	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcaaacaccaacaaagaagGtttgtatgccttgtaagaat	17	10	7	7	0	1	2	1	0	0	2	1	2	1	2	2	1	3	3	2	1	7	4			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr15:45980603G>T	ENST00000260324.7	+	8	1502		c.e8+1		SQRDL_ENST00000568606.1_Splice_Site	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)						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 inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AACAAAGAAGGTTTGTATGCC	0.343																																					.													.	.			0			c.1116+1G>T												85	83	84					15																	45980603		2198	4297	6495	SO:0001630	splice_region_variant	58472	exon9			AAGAAGGTTTGTA	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.1116+1G>T	15.37:g.45980603G>T			38	0	0		45	0.07	3	NM_001271213	0		0	Q9UQM8	Splice_Site	SNP	ENST00000260324.7	37	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691118	0.48097	.	.	ENSG00000137767	ENST00000260324	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0926	0.89479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SQRDL	43767895	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	8.163000	0.89659	2.671000	0.90904	0.655000	0.94253	.			0.343	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254319.2			Intron	T	45980603	G	T	45980603	5	4	37	1	0	0	0	0	0	0	1	0	15152	1275	44	3	1143	3	SQRDL	15	45980603	Splice_Site	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		45980603	56550789	42	2624											
MYO5A	4644	hgsc.bcm.edu	37	chr15	52662553	52662553	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcgtagtttctcagtcTcagagttgtatattccttcc	7	17	6	11	1	2	1	2	0	2	1	7	1	4	1	2	0	0	4	2	0	3	8			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr15:52662553T>C	ENST00000399231.3	-	22	3122	c.2879A>G	c.(2878-2880)gAg>gGg	p.E960G	MYO5A_ENST00000356338.6_Missense_Mutation_p.E960G|MYO5A_ENST00000553916.1_Missense_Mutation_p.E960G|MYO5A_ENST00000358212.6_Missense_Mutation_p.E960G|MYO5A_ENST00000399233.2_Missense_Mutation_p.E960G	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	960					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)		TTTCTCAGTCTCAGAGTTGTA	0.398																																					p.E960G													.	.			0			c.A2879G												67	65	65					15																	52662553		1859	4094	5953	SO:0001583	missense	4644	exon22			TCAGTCTCAGAGT		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.2879A>G	15.37:g.52662553T>C	ENSP00000382177:p.Glu960Gly		101	0	0		95	0.04	4	NM_000259	10	0	0	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.639429	0.87760	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.58810	1.83	0.80722	D	1	B;D	0.89917	0.226;1.0	B;D	0.85130	0.214;0.997	T	0.52041	-0.8628	10	0.52906	T	0.07	.	15.9526	0.79855	0.0:0.0:0.0:1.0	.	960;960	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	G	960;494;960;960;960;590;960	ENSP00000382177:E960G;ENSP00000382179:E960G;ENSP00000348693:E960G;ENSP00000350945:E960G;ENSP00000451109:E960G	ENSP00000348693:E960G	E	-	2	0	MYO5A	50449845	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.162000	0.77515	2.168000	0.68352	0.533000	0.62120	GAG			0.398	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268102.1		NM_000259		C	52662553	T	C	52662553	3	2	37	1	0	0	0	0	1	0	0	0	10094	1551	54	4	2768	4	MYO5A	15	52662553	Missense_Mutation	SNP	T	TCGA-2G-AAGS-01A-11D-A42Y-10	6681950	52662553	49868839	43	2625											
ABCC6	368	ucsc.edu;bcgsc.ca	37	chr16	16251629	16251629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcccgccctgaggccagGggggctgagctgcacatgtg	5	7	16	13	1	1	2	0	2	1	0	1	2	1	2	3	4	3	3	3	4	0	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr16:16251629G>T	ENST00000205557.7	-	27	3802	c.3773C>A	c.(3772-3774)cCc>cAc	p.P1258H		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1258					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)	CTGAGGCCAGGGGGGCTGAGC	0.622																																					p.P1258H													.	ABCC6	110		0			c.C3773A												36	33	34					16																	16251629		2197	4300	6497	SO:0001583	missense	368	exon27			GGCCAGGGGGGCT	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.3773C>A	16.37:g.16251629G>T	ENSP00000205557:p.Pro1258His		40	0	0		39	0.1	4	NM_001171	3	0	0	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	g	13.37	2.218118	0.39201	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90563	-2.69	5.15	3.16	0.36331	.	1.205650	0.06301	U	0.700947	D	0.86883	0.6040	L	0.31845	0.965	0.58432	D	0.999999	D	0.54047	0.964	B	0.43701	0.428	T	0.76405	-0.2971	10	0.48119	T	0.1	.	8.949	0.35776	0.2592:0.0:0.7408:0.0	.	1258	O95255	MRP6_HUMAN	H	1258;196	ENSP00000205557:P1258H	ENSP00000205557:P1258H	P	-	2	0	ABCC6	16159130	0.995000	0.38212	0.511000	0.27724	0.536000	0.34869	0.975000	0.29449	0.562000	0.29204	-0.293000	0.09583	CCC			0.622	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252232.2				T	16251629	G	T	16251629	3	4	37	1	0	0	0	0	1	0	0	0	57	1232	43	3	758	3	ABCC6	16	16251629	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		16251629	74103124	44	2626											
RLTPR	146206	mdanderson.org	37	chr16	67683413	67683413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgccagcgtcctactccggGccctagccaccaatcctaac	8	7	8	18	2	0	0	0	0	0	0	3	0	3	0	7	1	5	0	7	1	4	3			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr16:67683413G>T	ENST00000334583.6	+	20	2138	c.1810G>T	c.(1810-1812)Gcc>Tcc	p.A604S	RLTPR_ENST00000545661.1_Missense_Mutation_p.A568S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	604	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTACTCCGGGCCCTAGCCAC	0.627																																					p.A604S													.	.			0			c.G1810T												39	44	43					16																	67683413		2019	4177	6196	SO:0001583	missense	146206	exon20			CTCCGGGCCCTAG	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1810G>T	16.37:g.67683413G>T	ENSP00000334958:p.Ala604Ser		30	0	0		18	0.11	2	NM_001013838	14	0	0	B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717676	0.89205	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.56275	0.47;0.47	5.09	5.09	0.68999	.	0.129409	0.51477	D	0.000087	T	0.65460	0.2693	M	0.86502	2.82	0.43238	D	0.995149	P;P	0.52463	0.953;0.911	P;B	0.46940	0.532;0.432	T	0.70521	-0.4849	10	0.34782	T	0.22	-21.2483	18.1015	0.89507	0.0:0.0:1.0:0.0	.	568;604	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	S	604;568	ENSP00000334958:A604S;ENSP00000441481:A568S	ENSP00000334958:A604S	A	+	1	0	RLTPR	66240914	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.682000	0.84083	2.390000	0.81377	0.561000	0.74099	GCC			0.627	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000467858.1		NM_001013838		T	67683413	G	T	67683413	3	4	37	1	0	0	0	0	1	0	0	0	13417	1203	42	2	1888	2	RLTPR	16	67683413	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	51431784	67683413	22671340	45	2627											
RANBP10	57610	mdanderson.org	37	chr16	67763875	67763875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggttggggttgtgctccaGcagccctgggtagaagcgct	6	9	17	9	1	0	1	0	0	0	1	1	2	1	1	2	4	4	6	2	4	2	3			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr16:67763875G>T	ENST00000317506.3	-	8	1079	c.964C>A	c.(964-966)Ctg>Atg	p.L322M	RANBP10_ENST00000411657.2_Missense_Mutation_p.L205M|RANBP10_ENST00000536251.1_Missense_Mutation_p.L93M|RANBP10_ENST00000602677.1_Missense_Mutation_p.L322M|RANBP10_ENST00000448631.2_Missense_Mutation_p.L266M	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	322	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				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)		TTGTGCTCCAGCAGCCCTGGG	0.622																																					p.L322M													.	.			0			c.C964A												100	88	92					16																	67763875		2198	4300	6498	SO:0001583	missense	57610	exon8			GCTCCAGCAGCCC	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.964C>A	16.37:g.67763875G>T	ENSP00000316589:p.Leu322Met		57	0	0		46	0.07	3	NM_020850	32	0	0	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842358	0.71488	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	6.07	4.13	0.48395	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.91635	0.999;0.999;0.903	T	0.83037	-0.0159	9	0.72032	D	0.01	-9.7963	10.5149	0.44883	0.1491:0.0:0.8509:0.0	.	205;266;322	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	M	322;266;93;205	.	ENSP00000316589:L322M	L	-	1	2	RANBP10	66321376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.921000	0.48852	1.585000	0.49928	0.655000	0.94253	CTG			0.622	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467896.1		NM_020850		T	67763875	G	T	67763875	3	4	37	1	0	0	0	0	1	0	0	0	13049	962	34	2	926	2	RANBP10	16	67763875	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	80462	67763875	22590878	46	2628											
ANKFY1	51479	mdanderson.org	37	chr17	4071123	4071123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaaatgttgcaaacccGcacaggcttgttcagatcaa	16	8	7	10	1	2	1	2	0	0	1	2	1	2	1	1	1	3	5	1	1	5	3			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr17:4071123G>A	ENST00000341657.4	-	25	3495	c.3460C>T	c.(3460-3462)Cgg>Tgg	p.R1154W	ANKFY1_ENST00000574367.1_Missense_Mutation_p.R1155W|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.R1196W	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1154					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTGCAAACCCGCACAGGCTTG	0.512																																					p.R1196W													.	.			0			c.C3586T												59	64	63					17																	4071123		1876	4105	5981	SO:0001583	missense	51479	exon25			AAACCCGCACAGG	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3460C>T	17.37:g.4071123G>A	ENSP00000343362:p.Arg1154Trp		90	0	0		80	0.05	4	NM_001257999	46	0	0	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	G	19.72	3.879987	0.72294	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	4.88	3.89	0.44902	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91009	0.7172	H	0.99746	4.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.999	D	0.94446	0.7663	9	0.87932	D	0	-8.4503	13.9789	0.64291	0.0:0.0:0.8473:0.1527	.	1096;1154;1155;1196	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	W	1155;1096	.	ENSP00000343362:R1155W	R	-	1	2	ANKFY1	4017872	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	3.331000	0.52075	1.393000	0.46605	0.563000	0.77884	CGG			0.512	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000438702.1		NM_016376		A	4071123	G	A	4071123	3	1	37	1	0	0	0	0	1	0	0	0	626	1086	38	1	53	1	ANKFY1	17	4071123	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		4071123	77124087	47	2629											
SENP3	26168	mdanderson.org	37	chr17	7466636	7466636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagaggaggaagaagaGgaggaggaggaggatgaaga	18	2	21	0	0	0	6	0	2	0	4	0	13	0	13	0	7	0	0	0	7	4	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr17:7466636G>A	ENST00000429205.2	+	2	292	c.243G>A	c.(241-243)gaG>gaA	p.E81E	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_Silent_p.E81E|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	81	Glu-rich.					cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				aggaagaagaggaggaggagg	0.622																																					p.E81E													.	.			0			c.G243A																																									SO:0001819	synonymous_variant	26168	exon2			AGAAGAGGAGGAG	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.243G>A	17.37:g.7466636G>A			123	0	0		123	0.04	5	NM_015670	127	0	0	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Silent	SNP	ENST00000429205.2	37																																																																																						0.622	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015670		A	7466636	G	A	7466636	2	1	37	1	0	0	0	0	0	0	0	1	14071	991	35	3		3	SENP3	17	7466636	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	3395513	7466636	73728574	48	2630											
RAB11FIP4	84440	mdanderson.org	37	chr17	29761077	29761077	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggagctgctgaaggatgtGctgtcggtggagagcgcggg	7	7	21	6	3	0	2	0	1	0	1	1	6	0	4	0	5	4	3	0	5	1	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr17:29761077G>T	ENST00000325874.8	+	3	502	c.273G>T	c.(271-273)gtG>gtT	p.V91V		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	91	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGAAGGATGTGCTGTCGGTGG	0.652																																					p.V91V													.	.			1	Unknown(1)	autonomic_ganglia(1)	c.G273T												70	59	63					17																	29761077		2201	4299	6500	SO:0001819	synonymous_variant	84440	exon3			GGATGTGCTGTCG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.273G>T	17.37:g.29761077G>T			17	0	0		20	0.1	2	NM_032932	7	0	0	Q52LI1|Q8N829|Q8NDT7|Q969D8	Silent	SNP	ENST00000325874.8	37	CCDS11267.1																																																																																					0.652	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256195.2		NM_032932		T	29761077	G	T	29761077	2	4	37	1	0	0	0	0	0	0	0	1	12919	1306	46	2		2	RAB11FIP4	17	29761077	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	22294441	29761077	51434133	49	2631											
MED1	5469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	37604156	37604156	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttactcagcttttctgaCtctatgatttaaatcagaaa	13	16	4	8	0	5	3	2	2	3	1	5	3	5	3	0	0	2	1	0	0	5	6			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr17:37604156C>G	ENST00000394287.3	-	2	232	c.27G>C	c.(25-27)gaG>gaC	p.E9D	MED1_ENST00000300651.6_Splice_Site_p.E9D			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)		GCTTTTCTGACTCTATGATTT	0.383										HNSCC(31;0.082)																											p.E9D	Pancreas(21;279 768 2492 4877 24026)												.	.			0			c.G27C												109	99	103					17																	37604156		2203	4300	6503	SO:0001630	splice_region_variant	5469	exon2			TTCTGACTCTATG	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	ENST00000394287.3:c.26-1G>C	17.37:g.37604156C>G			58	0	0		121	0.33	40	NM_004774	28	0.36	10	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37		.	.	.	.	.	.	.	.	.	.	C	10.59	1.391491	0.25118	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.32753	1.44	5.65	0.13	0.14746	.	.	.	.	.	T	0.28499	0.0705	N	0.24115	0.695	0.34211	D	0.674303	B;B	0.32829	0.267;0.386	P;P	0.54924	0.585;0.764	T	0.48681	-0.9014	9	0.12430	T	0.62	.	2.0223	0.03512	0.1265:0.4726:0.1227:0.2783	.	9;9	Q15648;Q15648-3	MED1_HUMAN;.	D	9	ENSP00000300651:E9D	ENSP00000300651:E9D	E	-	3	2	MED1	34857682	0.181000	0.23161	0.992000	0.48379	0.465000	0.32709	-0.397000	0.07269	-0.144000	0.11314	0.558000	0.71614	GAG			0.383	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000256944.1		NM_004774	Missense_Mutation	G	37604156	C	G	37604156	5	3	37	1	0	0	0	0	0	0	1	0	9441	579	20	5	4782	5	MED1	17	37604156	Splice_Site	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	7843079	37604156	43591054	50	2632											
UNC13D	201294	broad.mit.edu	37	chr17	73824882	73824882	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctaccgttgggtgcggggTacgtgaggggcaggcgggtc	4	7	21	9	4	0	1	0	1	0	0	1	1	0	1	2	7	3	3	2	7	2	3			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr17:73824882T>G	ENST00000207549.4	-	31	3516	c.3137A>C	c.(3136-3138)tAc>tCc	p.Y1046S	UNC13D_ENST00000412096.2_Missense_Mutation_p.Y1046S	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1046					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)			GGGTGCGGGGTACGTGAGGGG	0.701									Familial Hemophagocytic Lymphohistiocytosis																												p.Y1046S													.	UNC13D	68		0			c.A3137C												6	7	6					17																	73824882		2087	4136	6223	SO:0001583	missense	201294	exon31	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	GCGGGGTACGTGA	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.3137A>C	17.37:g.73824882T>G	ENSP00000207549:p.Tyr1046Ser		51	0.0980392157	5		36	0.22	8	NM_199242	14	0	0	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143639	0.57044	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	T;T	0.68624	-0.32;-0.34	5.65	4.57	0.56435	.	0.074496	0.53938	D	0.000041	T	0.56156	0.1966	L	0.44542	1.39	0.45607	D	0.998548	B	0.19817	0.039	B	0.18871	0.023	T	0.52518	-0.8565	10	0.27785	T	0.31	-13.2853	11.3216	0.49426	0.0:0.0711:0.0:0.9289	.	1046	Q70J99	UN13D_HUMAN	S	1046	ENSP00000207549:Y1046S;ENSP00000388093:Y1046S	ENSP00000207549:Y1046S	Y	-	2	0	UNC13D	71336477	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.799000	0.69101	2.279000	0.76181	0.533000	0.62120	TAC			0.701	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448847.2		XM_113950		G	73824882	T	G	73824882	3	3	37	1	0	0	0	0	1	0	0	0	17011	1638	57	4	143	4	UNC13D	17	73824882	Missense_Mutation	SNP	T	TCGA-2G-AAGS-01A-11D-A42Y-10	36220726	73824882	7370328	51	2633											
CBX4	8535	bcgsc.ca	37	chr17	77809480	77809481	+	Frame_Shift_Ins	INS	-	-	CCGATATC																															ttgggcttcggccctctcttINSccgatatcccatcagctgct																								rs73422118	byFrequency	TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr17:77809480_77809481insCCGATATC	ENST00000269397.4	-	4	387_388	c.210_211insGATATCGG	c.(208-213)cggaagfs	p.K71fs	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	71	Interaction with BMI1.				chromatin modification (GO:0016568)|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)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCTCTCTTCCGATATCCCA	0.639											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K71fs													.	CBX4	40		0			c.211_212insGATATCGG																																									SO:0001589	frameshift_variant	8535	exon4			CTCTCTTCCGATA	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.203_210dupGATATCGG	17.37:g.77809481_77809488dupCCGATATC	ENSP00000269397:p.Lys71fs		73	0	0	1178	45	0.07	3	NM_003655	6	0	0	B1PJR7|Q6TPI8|Q96C04	Frame_Shift_Ins	INS	ENST00000269397.4	37	CCDS32758.1																																																																																					0.639	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318007.1		NM_003655		CCGATATC	77809481	-	CCGATATC	77809480	7	5	37	1	0	1	1	0	0	0	0	0	2722	1792	62	0	1479	0	CBX4	17	77809480	Frame_Shift_Ins	INS	-	TCGA-2G-AAGS-01A-11D-A42Y-10	3984598	77809480	3385730	52	2634											
LAMA3	3909	mdanderson.org	37	chr18	21393036	21393036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggttccagcagtgcttGtgacccagctggtaccatca	8	11	10	12	0	2	1	2	1	0	0	3	1	3	1	3	2	4	5	3	2	1	4			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr18:21393036G>T	ENST00000313654.9	+	14	1998	c.1757G>T	c.(1756-1758)tGt>tTt	p.C586F	LAMA3_ENST00000399516.3_Missense_Mutation_p.C586F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	586	Domain V.|Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)					AGCAGTGCTTGTGACCCAGCT	0.323																																					p.C586F													.	.			0			c.G1757T												88	83	85					18																	21393036		1823	4072	5895	SO:0001583	missense	3909	exon14			GTGCTTGTGACCC	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.1757G>T	18.37:g.21393036G>T	ENSP00000324532:p.Cys586Phe		35	0	0		37	0.08	3	NM_198129	1	0	0	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414192	0.25465	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.80909	-1.43;-1.43	5.11	5.11	0.69529	EGF-like, laminin (4);	.	.	.	.	D	0.89801	0.6820	H	0.98646	4.29	0.80722	D	1	B;B	0.29481	0.245;0.124	B;B	0.35039	0.194;0.128	D	0.91243	0.5023	9	0.87932	D	0	.	17.0835	0.86604	0.0:0.0:1.0:0.0	.	586;586	Q6VU67;Q16787	.;LAMA3_HUMAN	F	586;586;584	ENSP00000324532:C586F;ENSP00000382432:C586F	ENSP00000324532:C586F	C	+	2	0	LAMA3	19647034	1.000000	0.71417	0.067000	0.19924	0.250000	0.25880	5.712000	0.68407	2.519000	0.84933	0.655000	0.94253	TGT			0.323	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254824.3		NM_000227, NM_198129		T	21393036	G	T	21393036	3	4	37	1	0	0	0	0	1	0	0	0	8622	1377	48	3	1811	3	LAMA3	18	21393036	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		21393036	56684212	53	2635											
SERPINB8	5271	mdanderson.org	37	chr18	61649058	61649058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatataaatgactgggtggCagagaagactgaaggtgaga	15	7	15	4	0	0	5	0	3	0	3	0	7	0	5	0	3	0	2	0	3	5	2			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr18:61649058C>T	ENST00000397985.2	+	4	666	c.410C>T	c.(409-411)gCa>gTa	p.A137V	SERPINB8_ENST00000353706.2_Missense_Mutation_p.A137V|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.A137V	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	137					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GACTGGGTGGCAGAGAAGACT	0.443																																					p.A137V													SERPINB8,NS,carcinoma,+1,1	SERPINB8	1	1	0			c.C410T												188	174	178					18																	61649058		2203	4300	6503	SO:0001583	missense	5271	exon4			GGGTGGCAGAGAA	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.410C>T	18.37:g.61649058C>T	ENSP00000381072:p.Ala137Val		31	0	0		33	0.09	3	NM_198833	2	0	0	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.55|11.55	1.672672|1.672672	0.29693|0.29693	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827|ENST00000295211	D;D;D;D|.	0.85171|.	-1.95;-1.95;-1.95;-1.95|.	5.21|5.21	-0.261|-0.261	0.12963|0.12963	Serpin domain (3);|.	1.716000|.	0.02980|.	N|.	0.145521|.	T|.	0.58452|.	0.2123|.	M|M	0.86651|0.86651	2.83|2.83	0.09310|0.09310	N|N	0.999998|0.999998	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.20577|.	0.024;0.03|.	T|.	0.53408|.	-0.8443|.	9|.	.|.	.|.	.|.	.|.	6.5844|6.5844	0.22612|0.22612	0.4344:0.4237:0.0:0.1419|0.4344:0.4237:0.0:0.1419	.|.	137;137|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	V|X	137|79	ENSP00000381072:A137V;ENSP00000331368:A137V;ENSP00000381075:A137V;ENSP00000393456:A137V|.	.|.	A|Q	+|+	2|1	0|0	SERPINB8|SERPINB8	59800038|59800038	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.664000|0.664000	0.39144|0.39144	0.735000|0.735000	0.26115|0.26115	0.034000|0.034000	0.15491|0.15491	0.467000|0.467000	0.42956|0.42956	GCA|CAG			0.443	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000134014.1		NM_001031848		T	61649058	C	T	61649058	3	4	37	1	0	0	0	0	1	0	0	0	14130	710	25	2	420	2	SERPINB8	18	61649058	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	40256022	61649058	16428190	54	2636											
RTTN	25914	hgsc.bcm.edu	37	chr18	67755229	67755229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagacagacatacctccCggcgcaccatactacattct	14	7	6	14	2	1	2	0	0	1	2	2	3	2	2	3	1	3	1	3	1	5	4	rs75356692	byFrequency	TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr18:67755229C>T	ENST00000255674.6	-	31	4584	c.4298G>A	c.(4297-4299)cGg>cAg	p.R1433Q	RTTN_ENST00000437017.1_Missense_Mutation_p.R1433Q|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1433					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)				ACATACCTCCCGGCGCACCAT	0.478													C|||	2	0.000399361	0	0	5008	,	,		17246	0		0.002	False		,,,				2504	0				p.R1433Q													RTTN,NS,carcinoma,-1,1	RTTN	-1	1	0			c.G4298A							C	GLN/ARG	1,3849		0,1,1924	89	88	88		4298	5.4	1	18	dbSNP_131	88	4,8230		0,4,4113	yes	missense	RTTN	NM_173630.3	43	0,5,6037	TT,TC,CC		0.0486,0.026,0.0414	probably-damaging	1433/2227	67755229	5,12079	1925	4117	6042	SO:0001583	missense	25914	exon31			ACCTCCCGGCGCA	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.4298G>A	18.37:g.67755229C>T	ENSP00000255674:p.Arg1433Gln		79	0	0		71	0.04	3	NM_173630	10	0	0	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	29.8	5.036776	0.93630	2.6E-4	4.86E-4	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.65549	-0.16;-0.16	5.45	5.45	0.79879	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79353	0.4431	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77877	-0.2424	10	0.44086	T	0.13	.	19.6539	0.95828	0.0:1.0:0.0:0.0	.	1433	Q86VV8	RTTN_HUMAN	Q	1433	ENSP00000255674:R1433Q;ENSP00000399520:R1433Q	ENSP00000255674:R1433Q	R	-	2	0	RTTN	65906209	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.485000	0.66850	2.719000	0.93026	0.484000	0.47621	CGG	0.001		0.478	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442988.1		NM_173630		T	67755229	C	T	67755229	3	4	37	1	0	0	0	0	1	0	0	0	13760	652	23	1	2458	1	RTTN	18	67755229	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	6106171	67755229	10322019	55	2637											
RFX1	5989	mdanderson.org	37	chr19	14073848	14073848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaggtggccagattggCgaactggaggaagaagagaa	14	4	18	5	1	0	3	0	0	0	3	0	8	0	6	1	6	1	0	1	6	4	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr19:14073848C>T	ENST00000254325.4	-	20	2962	c.2728G>A	c.(2728-2730)Gcc>Acc	p.A910T		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	910	Necessary for dimerization.				immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCCAGATTGGCGAACTGGAGG	0.716																																					p.A910T													.	.			0			c.G2728A												31	31	31					19																	14073848		2012	3976	5988	SO:0001583	missense	5989	exon20			GATTGGCGAACTG		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2728G>A	19.37:g.14073848C>T	ENSP00000254325:p.Ala910Thr		89	0	0		46	0.07	3	NM_002918	173	0	0		Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	c	16.97	3.268460	0.59540	.	.	ENSG00000132005	ENST00000254325	T	0.47177	0.85	5.0	3.94	0.45596	.	0.247552	0.39834	N	0.001259	T	0.34077	0.0885	L	0.47716	1.5	0.45452	D	0.998428	P	0.48694	0.914	B	0.34038	0.174	T	0.12167	-1.0558	10	0.28530	T	0.3	-26.4741	11.8961	0.52658	0.1754:0.8246:0.0:0.0	.	910	P22670	RFX1_HUMAN	T	910	ENSP00000254325:A910T	ENSP00000254325:A910T	A	-	1	0	RFX1	13934848	1.000000	0.71417	0.992000	0.48379	0.823000	0.46562	2.353000	0.44089	1.081000	0.41110	0.416000	0.27883	GCC			0.716	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458510.1		NM_002918		T	14073848	C	T	14073848	3	4	37	1	0	0	0	0	1	0	0	0	13285	768	27	1	219	1	RFX1	19	14073848	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10		14073848	45055135	56	2638											
LPHN1	22859	mdanderson.org	37	chr19	14262420	14262420	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcttcccggcctcccaaGgggtgctctgcagggcagaa	7	6	14	14	1	1	1	0	0	1	1	3	1	3	1	3	5	2	4	3	5	2	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr19:14262420G>T	ENST00000340736.6	-	24	3987	c.3690C>A	c.(3688-3690)ccC>ccA	p.P1230P	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.P1225P|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1230					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						GGCCTCCCAAGGGGTGCTCTG	0.617																																					p.P1230P													.	.			0			c.C3690A												51	58	56					19																	14262420		1956	4027	5983	SO:0001819	synonymous_variant	22859	exon24			TCCCAAGGGGTGC	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.3690C>A	19.37:g.14262420G>T			30	0	0		20	0.1	2	NM_001008701	96	0	0	Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	CCDS32928.1																																																																																					0.617	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000459696.1		NM_014921		T	14262420	G	T	14262420	2	4	37	1	0	0	0	0	0	0	0	1	8931	987	35	3		3	LPHN1	19	14262420	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10	188572	14262420	44866563	57	2639											
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42796253	42796253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagatcatccagctgaccCcggtgcctgtgagcacaccc	9	6	9	17	1	1	3	1	2	0	1	2	3	2	3	5	1	3	2	5	1	0	0			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr19:42796253C>G	ENST00000575354.2	+	12	2942	c.2902C>G	c.(2902-2904)Ccg>Gcg	p.P968A	CIC_ENST00000160740.3_Missense_Mutation_p.P968A|CIC_ENST00000572681.2_Missense_Mutation_p.P1877A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	968	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGCTGACCCCGGTGCCTGT	0.652			"Mis, F, S"		oligodendroglioma																																p.P968A				Rec	yes		19	19q13.2	23152	capicua homolog		O	.	.			0			c.C2902G												73	80	78					19																	42796253		2203	4300	6503	SO:0001583	missense	23152	exon12			CTGACCCCGGTGC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2902C>G	19.37:g.42796253C>G	ENSP00000458663:p.Pro968Ala		128	0	0		67	0.28	19	NM_015125	53	0.38	20	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071537	0.55646	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	T	0.57272	0.2042	L	0.29908	0.895	0.42671	D	0.99351	D	0.55172	0.97	P	0.51833	0.681	T	0.63102	-0.6712	8	0.87932	D	0	-11.2505	15.6181	0.76784	0.0:1.0:0.0:0.0	.	968	Q96RK0	CIC_HUMAN	A	968	.	ENSP00000160740:P968A	P	+	1	0	CIC	47488093	0.986000	0.35501	0.997000	0.53966	0.938000	0.57974	2.794000	0.47853	2.571000	0.86741	0.561000	0.74099	CCG			0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438532.2				G	42796253	C	G	42796253	3	3	37	1	0	0	0	0	1	0	0	0	3426	623	22	5	2948	5	CIC	19	42796253	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	28533833	42796253	16332730	58	2640											
RASIP1	54922	mdanderson.org	37	chr19	49224143	49224143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggaggcggcggagcctaCggagttcacggtgcaaggca	10	4	18	9	4	1	1	1	0	0	1	1	4	1	4	1	7	3	3	1	7	2	2			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr19:49224143C>T	ENST00000222145.4	-	12	3008	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000377367.3_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	935					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)		p.R935P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GCGGAGCCTACGGAGTTCACG	0.642																																					p.R935H													RASIP1,NS,NS,0,1	RASIP1	0	1	1	Substitution - Missense(1)	pancreas(1)	c.G2804A												59	59	59					19																	49224143		2203	4300	6503	SO:0001583	missense	54922	exon12			AGCCTACGGAGTT	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2804G>A	19.37:g.49224143C>T	ENSP00000222145:p.Arg935His		74	0	0		47	0.06	3	NM_017805	35	0	0	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867519	0.72065	.	.	ENSG00000105538	ENST00000222145	T	0.23552	1.9	5.58	5.58	0.84498	.	0.252347	0.37906	N	0.001895	T	0.25791	0.0628	L	0.29908	0.895	0.32228	N	0.574381	D	0.69078	0.997	P	0.45660	0.489	T	0.12528	-1.0544	10	0.52906	T	0.07	-10.9615	17.4533	0.87599	0.0:1.0:0.0:0.0	.	935	Q5U651	RAIN_HUMAN	H	935	ENSP00000222145:R935H	ENSP00000222145:R935H	R	-	2	0	RASIP1	53915955	0.924000	0.31332	1.000000	0.80357	0.256000	0.26092	1.808000	0.38912	2.813000	0.96785	0.655000	0.94253	CGT			0.642	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466185.1		NM_017805		T	49224143	C	T	49224143	3	4	37	1	0	0	0	0	1	0	0	0	13101	536	19	1	91	1	RASIP1	19	49224143	Missense_Mutation	SNP	C	TCGA-2G-AAGS-01A-11D-A42Y-10	6427890	49224143	9904840	59	2641											
PTGIS	5740	mdanderson.org	37	chr20	48166687	48166687	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggcataccccaaccaGgggatgctgcccaggtccag	10	5	11	15	0	0	0	0	0	0	0	2	1	2	1	6	4	4	2	6	4	3	1			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr20:48166687G>T	ENST00000244043.4	-	2	143	c.114C>A	c.(112-114)ccC>ccA	p.P38P	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	38			P -> L (in allele CYP8A1*2). {ECO:0000269|PubMed:11281454}.		apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	ACCCCAACCAGGGGATGCTGC	0.532																																					p.P38P													.	.			0			c.C114A												81	67	72					20																	48166687		2203	4300	6503	SO:0001819	synonymous_variant	5740	exon2			CAACCAGGGGATG		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.114C>A	20.37:g.48166687G>T			45	0	0		41	0.07	3	NM_000961	22	0	0	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	CCDS13419.1																																																																																					0.532	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080496.2				T	48166687	G	T	48166687	2	4	37	1	0	0	0	0	0	0	0	1	12773	987	35	3		3	PTGIS	20	48166687	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		48166687	14858833	60	2642											
CTCFL	140690	broad.mit.edu	37	chr20	56094264	56094264	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcccggcagttttaccTgtgtgggtgttaacatggtt	5	15	12	9	1	0	0	0	0	0	0	1	0	1	0	3	3	2	4	3	3	2	5			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chr20:56094264T>C	ENST00000608263.1	-	3	1585	c.924A>G	c.(922-924)acA>acG	p.T308T	CTCFL_ENST00000502686.2_Splice_Site_p.T46T|CTCFL_ENST00000433949.3_Splice_Site_p.T103T|CTCFL_ENST00000422869.2_Splice_Site_p.T308T|CTCFL_ENST00000481655.2_Splice_Site_p.T308T|CTCFL_ENST00000429804.3_Splice_Site_p.T308T|CTCFL_ENST00000608440.1_Splice_Site_p.T308T|CTCFL_ENST00000423479.3_Splice_Site_p.T308T|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Splice_Site_p.T308T|CTCFL_ENST00000608425.1_Splice_Site_p.T308T|CTCFL_ENST00000608158.1_Splice_Site_p.T308T|CTCFL_ENST00000539382.1_Splice_Site_p.T103T|CTCFL_ENST00000432255.2_Splice_Site_p.T308T|CTCFL_ENST00000371196.2_Splice_Site_p.T308T|CTCFL_ENST00000608903.1_Splice_Site_p.T46T|CTCFL_ENST00000609232.1_Splice_Site_p.T308T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	308					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|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)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAGTTTTACCTGTGTGGGTGT	0.458																																					p.T308T													.	CTCFL	97		0			c.A924G												76	78	77					20																	56094264		2203	4300	6503	SO:0001630	splice_region_variant	140690	exon3			TTTACCTGTGTGG		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.925+1A>G	20.37:g.56094264T>C			135	0	0		161	0.01	2	NM_001269044	0		0	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Splice_Site	SNP	ENST00000608263.1	37	CCDS13459.1																																																																																					0.458	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000472040.1		NM_080618	Silent	C	56094264	T	C	56094264	5	2	37	1	0	0	0	0	0	0	1	0	4003	1594	55	4	1099	4	CTCFL	20	56094264	Splice_Site	SNP	T	TCGA-2G-AAGS-01A-11D-A42Y-10	7927577	56094264	6931256	61	2643											
G6PD	2539	mdanderson.org	37	chrX	153762708	153762708	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgatgatgcggttccaGcctctgctgggagcccggag	6	8	14	13	3	1	1	0	1	1	0	3	4	3	3	4	3	4	2	4	3	0	1	rs80149725		TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chrX:153762708G>T	ENST00000393564.2	-	6	601	c.489C>A	c.(487-489)ggC>ggA	p.G163G	G6PD_ENST00000393562.2_Silent_p.G193G|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Silent_p.G163G	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	163			G -> D (in Plymouth; class I). {ECO:0000269|PubMed:7858267}.|G -> S (in Mahidol; class III; reduced activity; associated with reduced density of Plasmodium vivax but not Plasmodium falciparum in Southeast Asians).		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)					TGCGGTTCCAGCCTCTGCTGG	0.617																																					p.G193G													.	.			0			c.C579A												67	57	60					X																	153762708		2203	4300	6503	SO:0001819	synonymous_variant	2539	exon6			GTTCCAGCCTCTG	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.489C>A	X.37:g.153762708G>T			41	0	0		30	0.1	3	NM_000402	207	0	1	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	CCDS44023.1																																																																																					0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061170.3		NM_000402		T	153762708	G	T	153762708	2	4	37	1	0	0	0	0	0	0	0	1	6159	958	34	2		2	G6PD	23	153762708	Silent	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		153762708	1507852	62	2644											
ZFY	7544	mdanderson.org	37	chrY	2829680	2829680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgaggactacctaatGatttcgtgtaagtcatgggg	10	12	13	6	1	1	2	1	2	0	0	2	3	1	3	1	3	2	2	1	3	3	4			TCGA-2G-AAGS-01A-11D-A42Y-10	TCGA-2G-AAGS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	316c085e-6dd0-48c8-abc3-1653d58f11e4	f7149d2b-099b-4a37-a78b-54186de35097	g.chrY:2829680G>T	ENST00000155093.3	+	3	948	c.627G>T	c.(625-627)atG>atT	p.M209I	ZFY_ENST00000449237.1_Missense_Mutation_p.M183I|ZFY_ENST00000383052.1_Missense_Mutation_p.M209I|ZFY_ENST00000431102.1_Intron	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	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)			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						ACTACCTAATGATTTCGTGTA	0.398																																					p.M209I													.	.			0			c.G627T												53	41	44					Y																	2829680		597	1957	2554	SO:0001583	missense	7544	exon3			CCTAATGATTTCG	L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"Zinc fingers, C2H2-type"	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.627G>T	Y.37:g.2829680G>T	ENSP00000155093:p.Met209Ile		27	0.037037037	1		16	0.13	2	NM_003411	13	0	0	B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	CCDS14774.1																																																																																					0.398	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088063.1		NM_003411		T	2829680	G	T	2829680	3	4	37	1	0	0	0	0	1	0	0	0	17685	1290	45	3	633	3	ZFY	24	2829680	Missense_Mutation	SNP	G	TCGA-2G-AAGS-01A-11D-A42Y-10		2829680	56543886	63	2645											
SLC2A7	155184	mdanderson.org	37	chr1	9074853	9074853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacaggtggccctcggcgcGctcggcccgggcctccgcac	4	4	15	18	6	0	1	0	0	0	1	3	1	1	1	4	5	0	2	4	5	0	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:9074853G>T	ENST00000400906.1	-	7	789	c.790C>A	c.(790-792)Cgc>Agc	p.R264S		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	264					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCCTCGGCGCGCTCGGCCCGG	0.687																																					p.R264S													SLC2A7,NS,carcinoma,+2,1	SLC2A7	2	1	0			c.C790A												21	22	22					1																	9074853		2196	4296	6492	SO:0001583	missense	155184	exon7			CGGCGCGCTCGGC	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.790C>A	1.37:g.9074853G>T	ENSP00000383698:p.Arg264Ser		38	0.0526315789	2		33	0.09	3	NM_207420	0		0	A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	2.927	-0.221859	0.06061	.	.	ENSG00000197241	ENST00000400906	T	0.73897	-0.79	3.96	-1.31	0.09230	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	7.200770	0.00357	N	0.000031	T	0.58018	0.2093	N	0.16166	0.38	0.24121	N	0.995803	P	0.34699	0.464	B	0.39419	0.299	T	0.50048	-0.8873	10	0.06757	T	0.87	.	7.3067	0.26451	0.0:0.1024:0.3534:0.5442	.	264	Q6PXP3	GTR7_HUMAN	S	264	ENSP00000383698:R264S	ENSP00000383698:R264S	R	-	1	0	SLC2A7	8997440	0.034000	0.19679	0.001000	0.08648	0.007000	0.05969	0.238000	0.18004	-0.456000	0.07043	0.484000	0.47621	CGC			0.687	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127768.3		NM_207420		T	9074853	G	T	9074853	3	4	38	1	0	0	0	0	1	0	0	0	14573	1087	38	1	772	1	SLC2A7	1	9074853	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		9074853	240175768	1	2646											
AHDC1	27245	mdanderson.org	37	chr1	27878462	27878462	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggttctcggagaaggcGtgggtggagaaggccttgtc	6	9	19	7	3	1	2	0	0	1	2	3	4	1	2	1	6	0	1	1	6	2	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:27878462G>A	ENST00000247087.5	-	5	761	c.165C>T	c.(163-165)caC>caT	p.H55H	AHDC1_ENST00000374011.2_Silent_p.H55H			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	55	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)		CGGAGAAGGCGTGGGTGGAGA	0.751																																					p.H55H													.	.			0			c.C165T												8	10	10					1																	27878462		2073	4063	6136	SO:0001819	synonymous_variant	27245	exon6			GAAGGCGTGGGTG	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.165C>T	1.37:g.27878462G>A			41	0	0		26	0.08	2	NM_001029882	5	0	0	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	CCDS30652.1																																																																																					0.751	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009523.3				A	27878462	G	A	27878462	2	1	38	1	0	0	0	0	0	0	0	1	412	1136	40	1		1	AHDC1	1	27878462	Silent	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	18803609	27878462	221372159	2	2647											
WDR65	149465	mdanderson.org	37	chr1	43652471	43652471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaggaaactctggttGccagcaccagtaagaaccaa	14	6	9	12	0	2	2	1	0	1	2	2	3	2	3	4	2	4	3	4	2	4	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:43652471G>T	ENST00000372492.4	+	6	1387	c.1063G>T	c.(1063-1065)Gcc>Tcc	p.A355S	WDR65_ENST00000528956.1_Missense_Mutation_p.A355S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		355										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACTCTGGTTGCCAGCACCAG	0.527																																					p.A355S													.	.			0			c.G1063T												116	99	105					1																	43652471		2203	4300	6503	SO:0001583	missense	149465	exon6			CTGGTTGCCAGCA																												ENST00000372492.4:c.1063G>T	1.37:g.43652471G>T	ENSP00000361570:p.Ala355Ser		50	0	0		44	0.07	3	NM_152498	2	0	0	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37		.	.	.	.	.	.	.	.	.	.	G	16.47	3.130944	0.56828	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.14022	2.54;2.54	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.175329	0.50627	D	0.000113	T	0.13586	0.0329	M	0.63843	1.955	0.36584	D	0.873699	B;B	0.22211	0.066;0.025	B;B	0.25884	0.064;0.041	T	0.08785	-1.0705	10	0.06236	T	0.91	.	10.2282	0.43238	0.1466:0.0:0.8534:0.0	.	355;355	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	S	355	ENSP00000361570:A355S;ENSP00000435310:A355S	ENSP00000361570:A355S	A	+	1	0	WDR65	43425058	1.000000	0.71417	0.994000	0.49952	0.832000	0.47134	2.869000	0.48444	2.649000	0.89929	0.655000	0.94253	GCC			0.527	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding		OTTHUMT00000384325.1				T	43652471	G	T	43652471	3	4	38	1	0	0	0	0	1	0	0	0	17340	1319	46	2	1081	2	WDR65	1	43652471	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	15774009	43652471	205598150	3	2648											
TGFBR3	7049	hgsc.bcm.edu	37	chr1	92163669	92163669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaattggatttggttccTtcatgcttggacctttttct	7	18	9	7	0	2	1	1	0	1	1	3	4	3	3	2	3	1	2	2	3	1	7			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:92163669T>C	ENST00000525962.1	-	14	2367	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	TGFBR3_ENST00000370399.2_Missense_Mutation_p.K768R|TGFBR3_ENST00000212355.4_Missense_Mutation_p.K769R			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	769					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)		ATTTGGTTCCTTCATGCTTGG	0.368																																					p.K769R													.	.			0			c.A2306G												143	144	144					1																	92163669		2203	4300	6503	SO:0001583	missense	7049	exon15			GGTTCCTTCATGC	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.2306A>G	1.37:g.92163669T>C	ENSP00000436127:p.Lys769Arg		122	0	0		87	0.05	4	NM_003243	14	0	0	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	T	4.899	0.167085	0.09339	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.03	3.84	0.44239	.	0.676288	0.15298	N	0.269812	T	0.05914	0.0154	N	0.15975	0.35	0.09310	N	0.999996	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.30387	-0.9980	10	0.18276	T	0.48	-22.6992	8.1929	0.31379	0.0:0.0:0.2648:0.7352	.	769;768;769	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	R	769;768;769;768	ENSP00000212355:K769R;ENSP00000359426:K768R;ENSP00000436127:K769R;ENSP00000432638:K768R	ENSP00000212355:K769R	K	-	2	0	TGFBR3	91936257	0.844000	0.29557	0.620000	0.29132	0.432000	0.31715	2.176000	0.42500	2.000000	0.58554	0.533000	0.62120	AAG			0.368	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000382308.1		NM_003243		C	92163669	T	C	92163669	3	2	38	1	0	0	0	0	1	0	0	0	15846	1609	56	4	261	4	TGFBR3	1	92163669	Missense_Mutation	SNP	T	TCGA-2G-AAGT-01A-11D-A42Y-10	48511198	92163669	157086952	4	2649											
HORMAD1	84072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150680868	150680868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagacaacatgctagattcGttgctttggtttttactaga	10	16	9	6	1	0	3	0	0	0	3	1	3	0	3	0	1	4	5	0	1	5	9	rs368484414		TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:150680868G>A	ENST00000361824.2	-	9	516	c.411C>T	c.(409-411)aaC>aaT	p.N137N	HORMAD1_ENST00000322343.7_Silent_p.N130N|HORMAD1_ENST00000368995.4_Silent_p.N57N|HORMAD1_ENST00000368993.2_Silent_p.N137N	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	137	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTAGATTCGTTGCTTTGGT	0.323																																					p.N137N													.	.			0			c.C411T							G	,	0,4406		0,0,2203	99	92	94		390,411	-2.7	0	1		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HORMAD1	NM_001199829.1,NM_032132.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	130/388,137/395	150680868	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84072	exon9			AGATTCGTTGCTT	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.411C>T	1.37:g.150680868G>A			105	0	0		87	0.43	37	NM_032132	0		0	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Silent	SNP	ENST00000361824.2	37	CCDS967.1																																																																																					0.323	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000084722.1		NM_032132		A	150680868	G	A	150680868	2	1	38	1	0	0	0	0	0	0	0	1	7301	1136	40	1		1	HORMAD1	1	150680868	Silent	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	58517199	150680868	98569753	5	2650											
NPR1	4881	mdanderson.org	37	chr1	153651756	153651756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcgcgcgtgggacccGccgtggagctggccctggcc	2	5	19	15	6	0	0	0	0	0	0	0	2	0	2	4	5	1	1	4	5	0	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:153651756G>T	ENST00000368680.3	+	1	644	c.172G>T	c.(172-174)Gcc>Tcc	p.A58S		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	58					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)	CGTGGGACCCGCCGTGGAGCT	0.731																																					p.A58S	Pancreas(141;1349 1870 15144 15830 40702)												.	.			0			c.G172T												4	4	4					1																	153651756		1801	3554	5355	SO:0001583	missense	4881	exon1			GGACCCGCCGTGG	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.172G>T	1.37:g.153651756G>T	ENSP00000357669:p.Ala58Ser		15	0	0		10	0.2	2	NM_000906	1	0	0	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906781	0.92107	.	.	ENSG00000169418	ENST00000368680	D	0.91464	-2.85	3.93	3.93	0.45458	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.95001	0.8382	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95715	0.8761	10	0.87932	D	0	.	13.4629	0.61237	0.0:0.0:1.0:0.0	.	58	P16066	ANPRA_HUMAN	S	58	ENSP00000357669:A58S	ENSP00000357669:A58S	A	+	1	0	NPR1	151918380	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.606000	0.90888	2.005000	0.58758	0.313000	0.20887	GCC			0.731	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090034.1		NM_000906		T	153651756	G	T	153651756	3	4	38	1	0	0	0	0	1	0	0	0	10611	1087	38	1	174	1	NPR1	1	153651756	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	2970888	153651756	95598865	6	2651											
ILDR2	387597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	166904678	166904678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccggagacagagggaGggtacccggcctttgctgct	8	6	16	11	2	0	2	0	0	0	2	0	5	0	4	3	5	3	3	3	5	1	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:166904678G>A	ENST00000271417.3	-	6	795	c.740C>T	c.(739-741)cCt>cTt	p.P247L	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.P228L|ILDR2_ENST00000469934.2_Missense_Mutation_p.P247L|ILDR2_ENST00000528703.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	247					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						GACAGAGGGAGGGTACCCGGC	0.592																																					p.P247L													.	.			0			c.C740T												52	51	51					1																	166904678		2203	4300	6503	SO:0001583	missense	387597	exon6			GAGGGAGGGTACC	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.740C>T	1.37:g.166904678G>A	ENSP00000271417:p.Pro247Leu		74	0	0		68	0.26	18	NM_199351	0		0		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031628	0.93575	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000529071	T;T;T	0.58940	0.34;0.38;0.3	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74179	-0.3749	10	0.87932	D	0	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	247	Q71H61	ILDR2_HUMAN	L	247;247;228	ENSP00000271417:P247L;ENSP00000437008:P247L;ENSP00000436882:P228L	ENSP00000271417:P247L	P	-	2	0	ILDR2	165171302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.230000	0.89793	2.662000	0.90505	0.556000	0.70494	CCT			0.592	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082880.2		NM_199351		A	166904678	G	A	166904678	3	1	38	1	0	0	0	0	1	0	0	0	7725	1000	35	3	1199	3	ILDR2	1	166904678	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	13252922	166904678	82345943	7	2652											
IARS2	55699	broad.mit.edu	37	chr1	220320874	220320874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctataaagtaattgTcatgccgactacgaaagaaa	15	11	7	8	2	2	1	1	0	1	1	3	3	3	1	2	0	2	1	2	0	7	6			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:220320874T>C	ENST00000302637.5	+	23	3040	c.2936T>C	c.(2935-2937)gTc>gCc	p.V979A	IARS2_ENST00000366922.1_Missense_Mutation_p.V907A	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	979					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAAGTAATTGTCATGCCGACT	0.388																																					p.V979A													.	IARS2	106		0			c.T2936C												108	113	111					1																	220320874		2203	4300	6503	SO:0001583	missense	55699	exon23			TAATTGTCATGCC	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2936T>C	1.37:g.220320874T>C	ENSP00000303279:p.Val979Ala		107	0	0		96	0.03	3	NM_018060	344	0	0	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479415	0.44044	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.14022	2.54;2.54	5.65	5.65	0.86999	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.261224	0.37669	N	0.001988	T	0.07908	0.0198	N	0.08118	0	0.34080	D	0.659512	B	0.17465	0.022	B	0.14578	0.011	T	0.08764	-1.0706	10	0.62326	D	0.03	-21.1069	10.5532	0.45101	0.0:0.0813:0.0:0.9187	.	979	Q9NSE4	SYIM_HUMAN	A	907;979	ENSP00000355889:V907A;ENSP00000303279:V979A	ENSP00000303279:V979A	V	+	2	0	IARS2	218387497	0.993000	0.37304	0.986000	0.45419	0.903000	0.53119	2.276000	0.43408	2.152000	0.67230	0.477000	0.44152	GTC			0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_018060		C	220320874	T	C	220320874	3	2	38	1	0	0	0	0	1	0	0	0	7489	1667	58	4	3026	4	IARS2	1	220320874	Missense_Mutation	SNP	T	TCGA-2G-AAGT-01A-11D-A42Y-10	53416196	220320874	28929747	8	2653											
AIDA	64853	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	222849452	222849454	+	In_Frame_Del	DEL	GTA	GTA	-																															acttaccctttacactaactGtaatatagggatcgatgcac																										TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	GTA	GTA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:222849452_222849454delGTA	ENST00000340020.6	-	7	773_775	c.567_569delTAC	c.(565-570)attaca>ata	p.T190del	AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Intron|AIDA_ENST00000541237.1_In_Frame_Del_p.T166del	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	190	Axin-binding. {ECO:0000250}.				dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TACACTAACTGTAATATAGGGAT	0.379																																					p.190_190del													.	AIDA	23		0			c.568_570del																																									SO:0001651	inframe_deletion	64853	exon7			CTAACTGTAATAT	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"axin interaction partner and dorsalization antagonist"	612375	"chromosome 1 open reading frame 80"	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.567_569delTAC	1.37:g.222849452_222849454delGTA	ENSP00000339161:p.Thr190del		279	0	0		250	0.36	90	NM_022831	14	0	0	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	In_Frame_Del	DEL	ENST00000340020.6	37	CCDS1533.1																																																																																					0.379	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091818.1		NM_022831		-	222849454	GTA	-	222849452	7	5	38	1	0	1	0	1	0	0	0	0	423	1377	48	0	367	0	AIDA	1	222849452	In_Frame_Del	DEL	GTA	TCGA-2G-AAGT-01A-11D-A42Y-10	2528578	222849452	26401169	9	2654											
ZNF672	79894	mdanderson.org	37	chr1	249142349	249142349	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacttgcggcaagggtttCgggcagcgctccgacctggt	5	8	15	13	4	0	0	0	0	0	0	2	1	1	0	3	4	2	4	3	4	1	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr1:249142349C>T	ENST00000306562.3	+	4	1622	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	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)			GCAAGGGTTTCGGGCAGCGCT	0.701																																					p.F292F													.	.			0			c.C876T												10	9	9					1																	249142349		2174	4247	6421	SO:0001819	synonymous_variant	79894	exon4			GGGTTTCGGGCAG	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.876C>T	1.37:g.249142349C>T			13	0	0		10	0.2	2	NM_024836	54	0	0	Q96H65|Q96IM3|Q9H6G5	Silent	SNP	ENST00000306562.3	37	CCDS1638.1																																																																																					0.701	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097125.2		NM_024836		T	249142349	C	T	249142349	2	4	38	1	0	0	0	0	0	0	0	1	18102	883	31	1		1	ZNF672	1	249142349	Silent	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	26292897	249142349	108272	10	2655											
ATAD2B	54454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	24080341	24080341	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaatccatctatttcatcAaaaaatattatagaaggtct	16	14	4	7	0	4	1	2	0	2	1	5	1	5	1	1	1	0	1	1	1	9	6			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr2:24080341A>C	ENST00000238789.5	-	13	1855	c.1512T>G	c.(1510-1512)ttT>ttG	p.F504L		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	504						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATTTCATCAAAAAATATTA	0.259																																					p.F504L													.	.			0			c.T1512G												38	35	36					2																	24080341		1792	4056	5848	SO:0001583	missense	54454	exon13			TTCATCAAAAAAT	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1512T>G	2.37:g.24080341A>C	ENSP00000238789:p.Phe504Leu		371	0	0		437	0.31	134	NM_001242338	1	0	0	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.540999|4.540999	0.85917|0.85917	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789|ENST00000366438	D|.	0.92299|.	-3.01|.	5.64|5.64	5.64|5.64	0.86602|0.86602	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	.|.	.|.	.|.	.|.	T|T	0.40322|0.40322	0.1112|0.1112	N|N	0.05619|0.05619	-0.005|-0.005	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.34875|0.34875	-0.9811|-0.9811	9|5	0.66056|.	D|.	0.02|.	.|.	16.1729|16.1729	0.81831|0.81831	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	504|.	Q9ULI0|.	ATD2B_HUMAN|.	L|W	504|126	ENSP00000238789:F504L|.	ENSP00000238789:F504L|.	F|L	-|-	3|2	2|0	ATAD2B|ATAD2B	23933845|23933845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.272000|5.272000	0.65559|0.65559	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	TTT|TTG			0.259	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324333.1		NM_017552		C	24080341	A	C	24080341	3	2	38	1	0	0	0	0	1	0	0	0	1072	127	5	4	2928	4	ATAD2B	2	24080341	Missense_Mutation	SNP	A	TCGA-2G-AAGT-01A-11D-A42Y-10		24080341	219119032	11	2656											
USP39	10713	mdanderson.org	37	chr2	85866488	85866488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccactcttcaacatcctgGctaagttcaatggcatcact	10	12	6	13	0	4	0	3	0	1	0	5	0	5	0	2	2	2	3	2	2	3	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr2:85866488G>T	ENST00000323701.6	+	9	1268	c.1258G>T	c.(1258-1260)Gct>Tct	p.A420S	USP39_ENST00000409766.3_Missense_Mutation_p.A420S|USP39_ENST00000409470.1_Missense_Mutation_p.A420S|USP39_ENST00000409025.1_Missense_Mutation_p.A420S|USP39_ENST00000450066.2_Missense_Mutation_p.A317S|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	420	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CAACATCCTGGCTAAGTTCAA	0.473																																					p.A420S													.	.			0			c.G1258T												128	104	112					2																	85866488		2203	4300	6503	SO:0001583	missense	10713	exon9			ATCCTGGCTAAGT	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1258G>T	2.37:g.85866488G>T	ENSP00000312981:p.Ala420Ser		60	0	0		55	0.07	4	NM_001256725	431	0	0	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296059	0.40594	.	.	ENSG00000168883	ENST00000450066;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.28454	1.61;4.2;1.61;1.61;1.61	5.75	5.75	0.90469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.101253	0.64402	D	0.000004	T	0.18593	0.0446	N	0.12422	0.21	0.47407	D	0.999416	B;B;B;B;B;B	0.20368	0.0;0.001;0.035;0.044;0.044;0.009	B;B;B;B;B;B	0.18263	0.007;0.007;0.012;0.021;0.021;0.012	T	0.08868	-1.0701	10	0.09084	T	0.74	-9.0462	17.4249	0.87524	0.0:0.0:1.0:0.0	.	317;342;420;420;420;420	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	S	317;420;420;420;420	ENSP00000396133:A317S;ENSP00000386572:A420S;ENSP00000386864:A420S;ENSP00000312981:A420S;ENSP00000386803:A420S	ENSP00000312981:A420S	A	+	1	0	USP39	85719999	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.314000	0.96306	2.721000	0.93114	0.655000	0.94253	GCT			0.473	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329892.1		NM_006590		T	85866488	G	T	85866488	3	4	38	1	0	0	0	0	1	0	0	0	17094	1203	42	2	1292	2	USP39	2	85866488	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	61786147	85866488	157332885	12	2657											
PLEKHA3	65977	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	179355457	179355467	+	Frame_Shift_Del	DEL	AATGCAGCTGA	AATGCAGCTGA	-																															atttctacatgaaggcagtgAatgcagctgaaagacagagg																										TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	AATGCAGCTGA	AATGCAGCTGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr2:179355457_179355467delAATGCAGCTGA	ENST00000234453.5	+	3	631_641	c.229_239delAATGCAGCTGA	c.(229-240)aatgcagctgaafs	p.NAAE77fs	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	77	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GAAGGCAGTGAATGCAGCTGAAAGACAGAGG	0.412																																					p.76_80del													.	PLEKHA3	25		0			c.228_238del																																									SO:0001589	frameshift_variant	65977	exon3			GCAGTGAATGCAG	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.229_239delAATGCAGCTGA	2.37:g.179355457_179355467delAATGCAGCTGA	ENSP00000234453:p.Asn77fs		228	0	0		162	0.3	48	NM_019091	10	0	0	Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	CCDS33336.1																																																																																					0.412	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335241.2		NM_019091		-	179355467	AATGCAGCTGA	-	179355457	7	5	38	1	0	1	0	1	0	0	0	0	12074	246	9	0	239	0	PLEKHA3	2	179355457	Frame_Shift_Del	DEL	AATGCAGCTGA	TCGA-2G-AAGT-01A-11D-A42Y-10	93488969	179355457	63843916	13	2658											
OBSL1	23363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	220416900	220416900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggacttcaccggcgtcctCggcgcgcagctcgctaagca	6	6	13	16	7	1	0	1	0	0	0	4	1	2	1	2	3	2	4	2	3	1	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr2:220416900C>T	ENST00000404537.1	-	19	5403	c.5347G>A	c.(5347-5349)Gag>Aag	p.E1783K	OBSL1_ENST00000373876.1_Missense_Mutation_p.E1691K|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1783					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGGCGTCCTCGGCGCGCAGC	0.662																																					p.E1783K													OBSL1_ENST00000404537,NS,carcinoma,0,1	OBSL1_ENST00000404537	0	1	0			c.G5347A												15	17	17					2																	220416900		1895	4095	5990	SO:0001583	missense	23363	exon19			CGTCCTCGGCGCG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.5347G>A	2.37:g.220416900C>T	ENSP00000385636:p.Glu1783Lys		239	0	0		187	0.41	76	NM_015311	10	0.4	4	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992738	0.54041	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.47528	0.84;0.84	4.76	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62307	0.2417	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55970	-0.8056	9	0.17832	T	0.49	.	15.2908	0.73865	0.0:1.0:0.0:0.0	.	1783	O75147	OBSL1_HUMAN	K	1783;1691	ENSP00000385636:E1783K;ENSP00000362983:E1691K	ENSP00000362983:E1691K	E	-	1	0	OBSL1	220125144	1.000000	0.71417	0.932000	0.37286	0.407000	0.30961	6.393000	0.73217	2.456000	0.83038	0.655000	0.94253	GAG			0.662	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322012.1				T	220416900	C	T	220416900	3	4	38	1	0	0	0	0	1	0	0	0	10830	893	31	1	355	1	OBSL1	2	220416900	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	41061443	220416900	22782473	14	2659											
DLEC1	9940	mdanderson.org	37	chr3	38103804	38103804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagaccacactgtggacaGcctgacatggaatttaactc	12	10	9	10	0	0	2	0	1	0	1	1	4	0	4	2	2	2	1	2	2	3	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr3:38103804G>A	ENST00000308059.6	+	4	839	c.818G>A	c.(817-819)aGc>aAc	p.S273N	DLEC1_ENST00000452631.2_Missense_Mutation_p.S273N|DLEC1_ENST00000346219.3_Missense_Mutation_p.S273N					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)		ACTGTGGACAGCCTGACATGG	0.483																																					p.S273N													.	.			0			c.G818A												78	73	75					3																	38103804		1963	4166	6129	SO:0001583	missense	9940	exon4			TGGACAGCCTGAC	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.818G>A	3.37:g.38103804G>A	ENSP00000308597:p.Ser273Asn		41	0	0		42	0.07	3	NM_007335	4	0	0		Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084069	0.36758	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05855	3.4;3.38;3.62	3.92	2.08	0.27032	.	0.774957	0.12719	N	0.444893	T	0.11024	0.0269	M	0.71581	2.175	0.25238	N	0.989771	P;P;P	0.41848	0.646;0.763;0.646	B;P;B	0.44990	0.152;0.466;0.152	T	0.14671	-1.0464	10	0.66056	D	0.02	-24.4311	5.3979	0.16278	0.1129:0.2064:0.6807:0.0	.	273;273;273	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	N	273	ENSP00000308597:S273N;ENSP00000315914:S273N;ENSP00000410427:S273N	ENSP00000308597:S273N	S	+	2	0	DLEC1	38078808	0.821000	0.29204	0.504000	0.27639	0.065000	0.16274	0.705000	0.25675	0.596000	0.29794	0.655000	0.94253	AGC			0.483	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000253745.3		NM_007337		A	38103804	G	A	38103804	3	1	38	1	0	0	0	0	1	0	0	0	4557	971	34	2	832	2	DLEC1	3	38103804	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		38103804	159918626	15	2660											
GMPPB	29925	mdanderson.org	37	chr3	49759234	49759234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcgccaatagacttgtggGgcagcacgctggctccgttg	7	9	13	12	3	0	1	0	0	0	1	2	1	1	1	2	3	1	5	2	3	2	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr3:49759234G>T	ENST00000480687.1	-	10	1150	c.1034C>A	c.(1033-1035)cCc>cAc	p.P345H	AMIGO3_ENST00000535833.1_5'UTR|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_Missense_Mutation_p.P372H|GMPPB_ENST00000308388.6_Missense_Mutation_p.P345H			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	345					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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGACTTGTGGGGCAGCACGCT	0.582																																					p.P372H													.	.			0			c.C1115A												55	52	53					3																	49759234		2203	4300	6503	SO:0001583	missense	29925	exon8			TTGTGGGGCAGCA	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.1034C>A	3.37:g.49759234G>T	ENSP00000418565:p.Pro345His		41	0	0		40	0.08	3	NM_013334	208	0	0	A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240051	0.79912	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	T;D;T	0.82344	-1.0;-1.6;-1.0	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95421	0.8507	10	0.87932	D	0	-21.4066	17.5082	0.87753	0.0:0.0:1.0:0.0	.	372;345	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	H	345;372;345	ENSP00000418565:P345H;ENSP00000309092:P372H;ENSP00000311130:P345H	ENSP00000309092:P372H	P	-	2	0	GMPPB	49734238	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.815000	0.99349	2.359000	0.80004	0.655000	0.94253	CCC			0.582	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350291.1		NM_013334		T	49759234	G	T	49759234	3	4	38	1	0	0	0	0	1	0	0	0	6509	1232	43	3	52	3	GMPPB	3	49759234	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	11655430	49759234	148263196	16	2661											
GPR78	27201	mdanderson.org	37	chr4	8582800	8582800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggtgctgctttgttgcGcctacagcgctgagctccgc	4	11	12	14	3	0	1	0	1	0	0	1	1	1	1	2	1	6	5	2	1	1	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr4:8582800G>T	ENST00000382487.4	+	1	508	c.91G>T	c.(91-93)Gcc>Tcc	p.A31S	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	31					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						GCTTTGTTGCGCCTACAGCGC	0.672																																					p.A31S													.	.			0			c.G91T												35	38	37					4																	8582800		2202	4300	6502	SO:0001583	missense	27201	exon1			TGTTGCGCCTACA	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.91G>T	4.37:g.8582800G>T	ENSP00000371927:p.Ala31Ser		27	0.037037037	1		26	0.12	3	NM_080819	19	0	0	Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408100	0.42715	.	.	ENSG00000155269	ENST00000382487	T	0.36878	1.23	2.55	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.736194	0.10829	U	0.629505	T	0.34716	0.0907	L	0.29908	0.895	0.22511	N	0.999038	D	0.55800	0.973	P	0.55303	0.773	T	0.17531	-1.0366	10	0.23302	T	0.38	.	7.1686	0.25706	0.0:0.196:0.6358:0.1682	.	31	Q96P69	GPR78_HUMAN	S	31	ENSP00000371927:A31S	ENSP00000371927:A31S	A	+	1	0	GPR78	8633700	0.494000	0.26043	0.819000	0.32651	0.200000	0.23975	0.202000	0.17295	0.938000	0.37419	0.313000	0.20887	GCC			0.672	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359201.1				T	8582800	G	T	8582800	3	4	38	1	0	0	0	0	1	0	0	0	6724	1087	38	1	93	1	GPR78	4	8582800	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		8582800	182571476	17	2662											
BOD1L	259282	mdanderson.org	37	chr4	13629060	13629060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatcatggccacgagctgcGggtccccggcgcccgcaccc	5	4	13	19	6	1	0	1	0	0	0	2	2	2	0	5	3	2	2	5	3	0	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr4:13629060G>T	ENST00000040738.5	-	1	287	c.152C>A	c.(151-153)cCg>cAg	p.P51Q	MIR5091_ENST00000578707.1_RNA	NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	51						nucleus (GO:0005634)	DNA binding (GO:0003677)										CACGAGCTGCGGGTccccggc	0.776																																					p.P51Q													.	.			0			c.C152A												9	9	9					4																	13629060		2190	4284	6474	SO:0001583	missense	259282	exon1			AGCTGCGGGTCCC	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.152C>A	4.37:g.13629060G>T	ENSP00000040738:p.Pro51Gln		19	0	0		19	0.16	3	NM_148894	0		0	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	g	19.61	3.859444	0.71834	.	.	ENSG00000038219	ENST00000040738	T	0.10477	2.87	3.29	3.29	0.37713	.	0.259962	0.20409	U	0.092897	T	0.26484	0.0647	L	0.53561	1.675	0.41178	D	0.986216	D	0.76494	0.999	D	0.68943	0.961	T	0.04053	-1.0981	10	0.54805	T	0.06	-2.1695	14.6762	0.68981	0.0:0.0:1.0:0.0	.	51	Q8NFC6	BOD1L_HUMAN	Q	51	ENSP00000040738:P51Q	ENSP00000040738:P51Q	P	-	2	0	BOD1L	13238158	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.532000	0.81985	1.824000	0.53156	0.298000	0.19748	CCG			0.776	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207321.1		NM_148894		T	13629060	G	T	13629060	3	4	38	1	0	0	0	0	1	0	0	0	1483	1116	39	1	9107	1	BOD1L	4	13629060	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	5046260	13629060	177525216	18	2663											
KIAA0947	23379	mdanderson.org	37	chr5	5464309	5464309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgttctcctgacacacTgagtaaaatacggcaagagg	14	9	10	8	1	1	4	0	2	1	2	2	4	1	4	1	2	1	3	1	2	4	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr5:5464309T>C	ENST00000296564.7	+	13	5084	c.4862T>C	c.(4861-4863)cTg>cCg	p.L1621P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1621					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						CCTGACACACTGAGTAAAATA	0.468																																					p.L1621P													.	.			0			c.T4862C												76	80	79					5																	5464309		1954	4158	6112	SO:0001583	missense	23379	exon13			ACACACTGAGTAA																												ENST00000296564.7:c.4862T>C	5.37:g.5464309T>C	ENSP00000296564:p.Leu1621Pro		43	0	0		34	0.09	3	NM_015325	27	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746893	0.69418	.	.	ENSG00000164151	ENST00000296564	T	0.20200	2.09	5.27	5.27	0.74061	.	.	.	.	.	T	0.42017	0.1184	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.30880	-0.9963	9	0.72032	D	0.01	-6.9369	13.135	0.59403	0.0:0.0:0.0:1.0	.	1621	Q9Y2F5	K0947_HUMAN	P	1621	ENSP00000296564:L1621P	ENSP00000296564:L1621P	L	+	2	0	KIAA0947	5517309	1.000000	0.71417	0.825000	0.32803	0.908000	0.53690	6.825000	0.75293	1.984000	0.57885	0.377000	0.23210	CTG			0.468	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365575.1				C	5464309	T	C	5464309	3	2	38	1	0	0	0	0	1	0	0	0	8217	1580	55	4	4912	4	KIAA0947	5	5464309	Missense_Mutation	SNP	T	TCGA-2G-AAGT-01A-11D-A42Y-10		5464309	175450951	19	2664											
AMACR	23600	broad.mit.edu	37	chr5	34004802	34004802	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagattcagcggggcataCggattctcaccacttctgcc	9	9	11	12	2	3	1	2	0	2	1	4	3	3	2	2	4	3	1	2	4	1	4	rs368427062		TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr5:34004802C>A	ENST00000335606.6	-	3	517	c.429G>T	c.(427-429)ccG>ccT	p.P143P	AMACR_ENST00000426255.2_Silent_p.P143P|AMACR_ENST00000512079.1_Silent_p.P143P|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000502637.1_Silent_p.P143P|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000382068.3_Intron|AMACR_ENST00000382085.3_Silent_p.P143P|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000441713.2_Intron	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	143					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GCGGGGCATACGGATTCTCAC	0.408																																					p.P143P													.	AMACR	38		0			c.G429T												97	89	92					5																	34004802		2203	4300	6503	SO:0001819	synonymous_variant	23600	exon3			GGCATACGGATTC	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.429G>T	5.37:g.34004802C>A			483	0	0		376	0.01	5	NM_014324	33	0	0	A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Silent	SNP	ENST00000335606.6	37	CCDS3902.1																																																																																					0.408	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207467.1		NM_014324		A	34004802	C	A	34004802	2	1	38	1	0	0	0	0	0	0	0	1	562	523	19	1		1	AMACR	5	34004802	Silent	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	28540493	34004802	146910458	20	2665											
FEM1C	56929	mdanderson.org	37	chr5	114860256	114860256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatggttgttaagagcagCgatatgcaggggactgttgt	9	12	16	4	1	0	1	0	0	0	1	0	4	0	3	0	4	3	5	0	4	2	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr5:114860256C>T	ENST00000274457.3	-	3	2164	c.1603G>A	c.(1603-1605)Gct>Act	p.A535T		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	535					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTAAGAGCAGCGATATGCAGG	0.413																																					p.A535T													.	.			0			c.G1603A												205	190	195					5																	114860256		2202	4300	6502	SO:0001583	missense	56929	exon3			GAGCAGCGATATG		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1603G>A	5.37:g.114860256C>T	ENSP00000274457:p.Ala535Thr		71	0	0		68	0.06	4	NM_020177	21	0	0	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509137	0.64410	.	.	ENSG00000145780	ENST00000274457	T	0.80909	-1.43	5.22	5.22	0.72569	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.84759	0.5543	M	0.72118	2.19	0.58432	D	0.999996	P	0.45531	0.86	P	0.50590	0.645	D	0.86194	0.1614	10	0.59425	D	0.04	-16.7352	14.5028	0.67734	0.1474:0.8526:0.0:0.0	.	535	Q96JP0	FEM1C_HUMAN	T	535	ENSP00000274457:A535T	ENSP00000274457:A535T	A	-	1	0	FEM1C	114888155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.938000	0.70170	2.415000	0.81967	0.563000	0.77884	GCT			0.413	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250857.3		NM_020177		T	114860256	C	T	114860256	3	4	38	1	0	0	0	0	1	0	0	0	5824	768	27	1	254	1	FEM1C	5	114860256	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	80855454	114860256	66055004	21	2666											
PCDHGA12	26025	mdanderson.org	37	chr5	140812465	140812465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtcatcttgctgctggcGctcaggctgcggcgctggca	3	11	14	13	4	3	0	2	0	1	0	4	0	3	0	0	4	3	6	0	4	0	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr5:140812465G>A	ENST00000252085.3	+	1	2281	c.2139G>A	c.(2137-2139)gcG>gcA	p.A713A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	713					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)			TGCTGCTGGCGCTCAGGCTGC	0.652																																					p.A713A													.	.			0			c.G2139A												73	83	79					5																	140812465		2203	4300	6503	SO:0001819	synonymous_variant	26025	exon1			GCTGGCGCTCAGG	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.2139G>A	5.37:g.140812465G>A			103	0	0		71	0.06	4	NM_003735	1	0	0	O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	CCDS4260.1																																																																																					0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251806.2		NM_003735		A	140812465	G	A	140812465	2	1	38	1	0	0	0	0	0	0	0	1	11570	1074	38	1		1	PCDHGA12	5	140812465	Silent	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	25952209	140812465	40102795	22	2667											
DPCR1	135656	mdanderson.org	37	chr6	30919170	30919170	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggacaccacaccatccTcagcagagcctacagaaaat	16	5	7	13	0	1	3	1	1	0	2	2	4	2	4	4	1	3	1	4	1	3	1			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr6:30919170T>C	ENST00000462446.1	+	2	2957	c.2929T>C	c.(2929-2931)Tca>Cca	p.S977P	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	329						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CACACCATCCTCAGCAGAGCC	0.498																																					p.S977P													.	.			0			c.T2929C												275	256	262					6																	30919170		692	1591	2283	SO:0001583	missense	135656	exon2			CCATCCTCAGCAG	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2929T>C	6.37:g.30919170T>C	ENSP00000417182:p.Ser977Pro		59	0	0		43	0.07	3	NM_080870	2	0	0	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	t	2.697	-0.271835	0.05716	.	.	ENSG00000168631	ENST00000462446	T	0.29397	1.57	2.5	-1.15	0.09709	.	.	.	.	.	T	0.00906	0.0030	N	0.00074	-2.255	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40887	-0.9539	9	0.02654	T	1	.	2.5079	0.04649	0.4016:0.3358:0.0:0.2626	.	977	E9PEI6	.	P	977	ENSP00000417182:S977P	ENSP00000417182:S977P	S	+	1	0	DPCR1	31027149	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-2.761000	0.00786	-0.418000	0.07450	-0.854000	0.03029	TCA			0.498	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000076173.3		NM_080870		C	30919170	T	C	30919170	3	2	38	1	0	0	0	0	1	0	0	0	4717	1551	54	4	2935	4	DPCR1	6	30919170	Missense_Mutation	SNP	T	TCGA-2G-AAGT-01A-11D-A42Y-10		30919170	140195897	23	2668											
HSP90AB1	3326	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	44218796	44218798	+	In_Frame_Del	DEL	AGA	AGA	-																															ttctttcagcacttttctgtAgaaggtcagttggaattcag																										TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	AGA	AGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr6:44218796_44218798delAGA	ENST00000371554.1	+	7	1183_1185	c.969_971delAGA	c.(967-972)gtagaa>gta	p.E324del	HSP90AB1_ENST00000371646.5_In_Frame_Del_p.E324del|HSP90AB1_ENST00000353801.3_In_Frame_Del_p.E324del			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	324					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTTTTCTGTAGAAGGTCAGTTG	0.384																																					p.323_324del													.	HSP90AB1	83		0			c.968_970del																																									SO:0001651	inframe_deletion	3326	exon7			TTCTGTAGAAGGT	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.969_971delAGA	6.37:g.44218796_44218798delAGA	ENSP00000360609:p.Glu324del		94	0	0		109	0.41	45	NM_001271969	3495	0	0	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	In_Frame_Del	DEL	ENST00000371554.1	37	CCDS4909.1																																																																																					0.384	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040730.1		NM_007355		-	44218798	AGA	-	44218796	7	5	38	1	0	1	0	1	0	0	0	0	7417	407	15	0	991	0	HSP90AB1	6	44218796	In_Frame_Del	DEL	AGA	TCGA-2G-AAGT-01A-11D-A42Y-10	13299626	44218796	126896271	24	2669											
TMEM184A	202915	mdanderson.org	37	chr7	1586698	1586698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggcgcctcgtgcgtggCctgctgcgtgtagtgctggt	1	11	17	12	4	0	0	0	0	0	0	1	0	0	0	3	3	4	3	3	3	1	1			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr7:1586698C>T	ENST00000297477.5	-	9	1448	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	378					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TCGTGCGTGGCCTGCTGCGTG	0.692																																					p.A378T													.	.			0			c.G1132A												34	38	37					7																	1586698		2201	4300	6501	SO:0001583	missense	202915	exon9			GCGTGGCCTGCTG		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1132G>A	7.37:g.1586698C>T	ENSP00000297477:p.Ala378Thr		27	0	0		39	0.08	3	NM_001097620	23	0	0	Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874391	0.51695	.	.	ENSG00000164855	ENST00000297477	T	0.32023	1.47	5.47	2.22	0.28083	.	0.196398	0.44902	U	0.000405	T	0.33089	0.0851	L	0.60455	1.87	0.33700	D	0.614452	B	0.31174	0.311	B	0.35813	0.211	T	0.49624	-0.8920	10	0.42905	T	0.14	-26.2822	14.2955	0.66311	0.5811:0.4189:0.0:0.0	.	378	Q6ZMB5	T184A_HUMAN	T	378	ENSP00000297477:A378T	ENSP00000297477:A378T	A	-	1	0	TMEM184A	1553224	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	3.041000	0.49807	0.611000	0.30052	0.549000	0.68633	GCC			0.692	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239229.4		NM_152689		T	1586698	C	T	1586698	3	4	38	1	0	0	0	0	1	0	0	0	16127	739	26	2	113	2	TMEM184A	7	1586698	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10		1586698	157551965	25	2670											
LRCH4	4034	mdanderson.org	37	chr7	100174944	100174944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctctgctgctgctgccgcCgttcccgctcctgccacagc	2	9	10	20	4	1	0	0	0	1	0	3	0	3	0	5	0	6	6	5	0	0	1			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr7:100174944C>T	ENST00000310300.6	-	11	1299	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	416					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGCTGCCGCCGTTCCCGCTC	0.721																																					p.R416Q													.	.			0			c.G1247A												6	9	8					7																	100174944		2021	4015	6036	SO:0001583	missense	4034	exon11			TGCCGCCGTTCCC	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1247G>A	7.37:g.100174944C>T	ENSP00000309689:p.Arg416Gln		14	0.0714285714	1		11	0.18	2	NM_002319	101	0	0	A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262248	0.80358	.	.	ENSG00000077454	ENST00000310300	T	0.35973	1.28	5.23	3.29	0.37713	.	0.137566	0.48767	D	0.000178	T	0.51041	0.1651	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.50634	-0.8805	10	0.19590	T	0.45	-21.9972	6.1766	0.20447	0.1821:0.7226:0.0:0.0954	.	416	O75427	LRCH4_HUMAN	Q	416	ENSP00000309689:R416Q	ENSP00000309689:R416Q	R	-	2	0	LRCH4	100012880	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	3.299000	0.51826	1.210000	0.43336	0.549000	0.68633	CGG			0.721	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356110.1		NM_002319		T	100174944	C	T	100174944	3	4	38	1	0	0	0	0	1	0	0	0	8951	652	23	1	836	1	LRCH4	7	100174944	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	98588246	100174944	58963719	26	2671											
ING3	54556	broad.mit.edu;mdanderson.org	37	chr7	120609078	120609078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaagatgaaggagggacGaagaacatcaagtttaaaag	19	8	11	3	1	1	3	1	1	0	2	1	6	1	5	0	2	1	1	0	2	7	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr7:120609078G>T	ENST00000315870.5	+	9	876	c.728G>T	c.(727-729)cGa>cTa	p.R243L	ING3_ENST00000431467.1_Missense_Mutation_p.R228L	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	243					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AAGGAGGGACGAAGAACATCA	0.299																																					p.R243L													ING3,NS,carcinoma,0,1	ING3	36	1	0			c.G728T												94	91	92					7																	120609078		2203	4300	6503	SO:0001583	missense	54556	exon9			AGGGACGAAGAAC	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"Zinc fingers, PHD-type"	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.728G>T	7.37:g.120609078G>T	ENSP00000320566:p.Arg243Leu		60	0	0		81	0.05	4	NM_019071	35	0	0	A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.669872	0.88348	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	T;T	0.39056	1.1;1.1	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.79475	2.455	0.80722	D	1	D;D	0.63880	0.993;0.987	D;D	0.74023	0.982;0.931	T	0.59847	-0.7377	10	0.20519	T	0.43	-10.8003	19.6916	0.96005	0.0:0.0:1.0:0.0	.	243;243	Q5GRH6;Q9NXR8	.;ING3_HUMAN	L	243;228	ENSP00000320566:R243L;ENSP00000388506:R228L	ENSP00000320566:R243L	R	+	2	0	ING3	120396314	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.224000	0.95209	2.659000	0.90383	0.484000	0.47621	CGA			0.299	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000280453.2		NM_019071		T	120609078	G	T	120609078	3	4	38	1	0	0	0	0	1	0	0	0	7752	1058	37	1	778	1	ING3	7	120609078	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	20434134	120609078	38529585	27	2672											
DLGAP2	9228	mdanderson.org	37	chr8	1626714	1626714	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcgtggtttttgaagctgCtgcacgcagagacaaagagg	10	9	14	8	2	0	3	0	1	0	2	1	4	0	3	0	2	3	6	0	2	2	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr8:1626714C>T	ENST00000421627.2	+	9	2517	c.2383C>T	c.(2383-2385)Ctg>Ttg	p.L795L	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	874					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)		TTTGAAGCTGCTGCACGCAGA	0.607																																					p.L795L													.	.			0			c.C2383T												23	25	24					8																	1626714		1976	4178	6154	SO:0001819	synonymous_variant	9228	exon9			AAGCTGCTGCACG	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.2383C>T	8.37:g.1626714C>T			48	0	0		22	0.14	3	NM_004745	0		0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1																																																																																					0.607	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374478.1		NM_004745		T	1626714	C	T	1626714	2	4	38	1	0	0	0	0	0	0	0	1	4565	796	28	2		2	DLGAP2	8	1626714	Silent	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10		1626714	144737308	28	2673											
MFHAS1	9258	bcgsc.ca	37	chr8	8750409	8750409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccggcagcacgagctgggGggaggcgggggactcgagcg	6	2	23	10	5	0	0	0	0	0	0	1	4	0	2	1	8	3	3	1	8	0	0	rs569422501		TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr8:8750409G>T	ENST00000276282.6	-	1	746	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	RNU6-682P_ENST00000363843.1_RNA	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	54										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACGAGCTGGGGGGAGGCGGGG	0.746													G|||	1	0.000199681	8e-04	0	5008	,	,		9345	0		0	False		,,,				2504	0				p.P54T	Melanoma(103;1201 2045 17515 28966)												.	MFHAS1	58		0			c.C160A												7	8	8					8																	8750409		2136	4208	6344	SO:0001583	missense	9258	exon1			GCTGGGGGGAGGC	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.160C>A	8.37:g.8750409G>T	ENSP00000276282:p.Pro54Thr		60	0	0		41	0.1	4	NM_004225	2	0	0	Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060776	0.19987	.	.	ENSG00000147324	ENST00000276282	T	0.35421	1.31	4.54	2.69	0.31865	.	0.480009	0.20041	N	0.100518	T	0.19805	0.0476	N	0.14661	0.345	0.28660	N	0.906168	B	0.23650	0.089	B	0.14578	0.011	T	0.15093	-1.0449	10	0.15952	T	0.53	.	12.4685	0.55773	0.0:0.3237:0.6763:0.0	.	54	Q9Y4C4	MFHA1_HUMAN	T	54	ENSP00000276282:P54T	ENSP00000276282:P54T	P	-	1	0	MFHAS1	8787819	0.033000	0.19621	0.981000	0.43875	0.405000	0.30901	0.706000	0.25690	0.325000	0.23359	-0.257000	0.10917	CCC			0.746	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374724.2		NM_004225		T	8750409	G	T	8750409	3	4	38	1	0	0	0	0	1	0	0	0	9537	1232	43	3	3010	3	MFHAS1	8	8750409	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	7123695	8750409	137613613	29	2674											
GSR	2936	mdanderson.org	37	chr8	30539555	30539555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaaagtcgatgggcaaGttttcggccagcagctattg	11	11	11	8	2	1	0	1	0	0	0	3	1	1	0	1	2	2	4	1	2	4	5			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr8:30539555G>T	ENST00000221130.5	-	11	1267	c.1177C>A	c.(1177-1179)Ctt>Att	p.L393I	GSR_ENST00000414019.1_Missense_Mutation_p.L350I|GSR_ENST00000541648.1_Missense_Mutation_p.L340I|GSR_ENST00000546342.1_Missense_Mutation_p.L364I|GSR_ENST00000537535.1_Missense_Mutation_p.L311I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	393					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CGATGGGCAAGTTTTCGGCCA	0.383																																					p.L393I													.	.			0			c.C1177A												100	107	105					8																	30539555		2203	4300	6503	SO:0001583	missense	2936	exon11			GGGCAAGTTTTCG		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1177C>A	8.37:g.30539555G>T	ENSP00000221130:p.Leu393Ile		54	0	0		45	0.07	3	NM_000637	115	0	0	C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633460	0.87660	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	T;T;T;D;T	0.82526	1.62;1.62;-0.34;-1.62;-0.73	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.92718	0.7685	H	0.94183	3.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93553	0.6888	10	0.66056	D	0.02	-25.322	10.5143	0.44881	0.0875:0.0:0.9125:0.0	.	393	P00390	GSHR_HUMAN	I	393;350;364;340;311	ENSP00000221130:L393I;ENSP00000390065:L350I;ENSP00000445516:L364I;ENSP00000444559:L340I;ENSP00000438845:L311I	ENSP00000221130:L393I	L	-	1	0	GSR	30659097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.817000	0.69229	2.622000	0.88805	0.644000	0.83932	CTT			0.383	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376519.1				T	30539555	G	T	30539555	3	4	38	1	0	0	0	0	1	0	0	0	6843	1029	36	3	403	3	GSR	8	30539555	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	21789146	30539555	115824467	30	2675											
TEX15	56154	mdanderson.org	37	chr8	30704648	30704648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatctggactttcagaaGaacaagtttctttaaactgg	15	12	7	7	0	3	2	1	0	2	2	3	3	3	3	0	2	2	1	0	2	7	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr8:30704648G>T	ENST00000256246.2	-	1	1960	c.1886C>A	c.(1885-1887)tCt>tAt	p.S629Y	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	629					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)		ACTTTCAGAAGAACAAGTTTC	0.338																																					p.S629Y													.	.			0			c.C1886A												68	67	67					8																	30704648		2203	4300	6503	SO:0001583	missense	56154	exon1			TCAGAAGAACAAG	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.1886C>A	8.37:g.30704648G>T	ENSP00000256246:p.Ser629Tyr		91	0	0		40	0.08	3	NM_031271	0		0		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774742	0.70107	.	.	ENSG00000133863	ENST00000256246	T	0.13420	2.59	5.13	2.32	0.28847	.	0.752143	0.12300	N	0.481208	T	0.20820	0.0501	L	0.34521	1.04	0.09310	N	1	D	0.64830	0.994	P	0.62740	0.906	T	0.08743	-1.0707	10	0.87932	D	0	.	6.7593	0.23532	0.2802:0.0:0.7198:0.0	.	629	Q9BXT5	TEX15_HUMAN	Y	629	ENSP00000256246:S629Y	ENSP00000256246:S629Y	S	-	2	0	TEX15	30824190	0.001000	0.12720	0.001000	0.08648	0.817000	0.46193	0.754000	0.26390	0.659000	0.30945	0.655000	0.94253	TCT			0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376193.1				T	30704648	G	T	30704648	3	4	38	1	0	0	0	0	1	0	0	0	15802	942	33	3	6499	3	TEX15	8	30704648	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	165093	30704648	115659374	31	2676											
RGS22	26166	broad.mit.edu	37	chr8	100990176	100990177	+	Frame_Shift_Ins	INS	-	-	G																															ttcgtcttctaggactgccaINSatttttttttctgcttatta																								rs7841915	byFrequency	TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr8:100990176_100990177insG	ENST00000360863.6	-	23	3681_3682	c.3487_3488insC	c.(3487-3489)ttgfs	p.L1163fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.L982fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1163					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TAGGACTGCCAATTTTTTTTTC	0.312																																					p.L1163fs													.	RGS22	319		0			c.3488_3489insC																																									SO:0001589	frameshift_variant	26166	exon23			ACTGCCAATTTTT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3487_3488insC	8.37:g.100990176_100990177insG	ENSP00000354109:p.Leu1163fs		395	0.0025316456	1		368	0.05	18	NM_015668	1	0	0	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Ins	INS	ENST00000360863.6	37	CCDS43758.1																																																																																					0.312	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000380365.1		NM_015668		G	100990177	-	G	100990176	7	5	38	1	0	1	1	0	0	0	0	0	13328	131	5	0	326	0	RGS22	8	100990176	Frame_Shift_Ins	INS	-	TCGA-2G-AAGT-01A-11D-A42Y-10	70285528	100990176	45373846	32	2677											
FBXO10	26267	broad.mit.edu	37	chr9	37516034	37516034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggccttggcacggccccGcacggcgatgccgtaggccc	5	4	15	17	5	0	0	0	0	0	0	0	1	0	0	5	5	1	3	5	5	1	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr9:37516034G>A	ENST00000432825.2	-	10	2611	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.R380W	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	855					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)	p.R861W(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCACGGCCCCGCACGGCGATG	0.542																																					p.R855W													FBXO10,NS,carcinoma,0,1	FBXO10	75	1	1	Substitution - Missense(1)	lung(1)	c.C2563T												154	132	139					9																	37516034		1913	4124	6037	SO:0001583	missense	26267	exon10			GGCCCCGCACGGC	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.2563C>T	9.37:g.37516034G>A	ENSP00000403802:p.Arg855Trp		132	0	0		116	0.03	4	NM_012166	28	0	0	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035907	0.54896	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80480	-1.38;-1.38	5.43	5.43	0.79202	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.609950	0.15903	N	0.238991	T	0.74921	0.3780	N	0.08118	0	0.36695	D	0.879781	D;P;P	0.61697	0.99;0.91;0.91	P;P;P	0.51101	0.659;0.448;0.448	T	0.82014	-0.0667	10	0.59425	D	0.04	-15.3349	17.9996	0.89195	0.0:0.0:1.0:0.0	.	734;380;855	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	W	855;380	ENSP00000403802:R855W;ENSP00000441307:R380W	ENSP00000403802:R855W	R	-	1	2	FBXO10	37506034	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	2.613000	0.46351	2.552000	0.86080	0.511000	0.50034	CGG			0.542	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052472.3				A	37516034	G	A	37516034	3	1	38	1	0	0	0	0	1	0	0	0	5739	1086	38	1	315	1	FBXO10	9	37516034	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		37516034	103697397	33	2678											
C9orf84	158401	bcgsc.ca;mdanderson.org	37	chr9	114480523	114480523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattgttaccagaagatgtAagagagcggcatgcttgaaa	15	10	11	5	1	0	4	0	1	0	3	0	5	0	4	1	1	3	4	1	1	5	5			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr9:114480523A>G	ENST00000318737.4	-	14	2113	c.1985T>C	c.(1984-1986)tTa>tCa	p.L662S	C9orf84_ENST00000374287.3_Missense_Mutation_p.L662S|C9orf84_ENST00000394779.3_Missense_Mutation_p.L623S|C9orf84_ENST00000394777.4_Intron	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	662										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAAGATGTAAGAGAGCGGC	0.333																																					p.L662S													.	C9orf84	207		0			c.T1985C												106	100	102					9																	114480523		2203	4300	6503	SO:0001583	missense	158401	exon14			AGATGTAAGAGAG	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1985T>C	9.37:g.114480523A>G	ENSP00000322108:p.Leu662Ser		74	0	0		41	0.1	4	NM_173521	0		0	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847760	0.32606	.	.	ENSG00000165181	ENST00000394779;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T	0.10288	2.89;2.9;2.9	5.25	4.09	0.47781	.	0.437819	0.17377	N	0.176453	T	0.21307	0.0513	L	0.32530	0.975	0.23107	N	0.998288	D;D	0.76494	0.999;0.999	D;D	0.72075	0.943;0.976	T	0.04454	-1.0950	10	0.87932	D	0	-5.1589	11.4023	0.49876	0.8643:0.0:0.0:0.1357	.	662;623	Q5VXU9;A2A2V3	CI084_HUMAN;.	S	623;276;662;662	ENSP00000378259:L623S;ENSP00000363405:L662S;ENSP00000322108:L662S	ENSP00000322108:L662S	L	-	2	0	C9orf84	113520344	0.962000	0.33011	0.998000	0.56505	0.023000	0.10783	5.885000	0.69736	0.816000	0.34421	-0.468000	0.05107	TTA			0.333	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000053656.2		NM_173521		G	114480523	A	G	114480523	3	3	38	1	0	0	0	0	1	0	0	0	2502	372	13	4	2401	4	C9orf84	9	114480523	Missense_Mutation	SNP	A	TCGA-2G-AAGT-01A-11D-A42Y-10	76964489	114480523	26732908	34	2679											
CDK5RAP2	55755	mdanderson.org	37	chr9	123215780	123215780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcagcctgccacccaGgcaccccgtgcaggttctct	6	6	13	16	1	1	0	0	0	1	0	2	1	1	1	5	4	3	4	5	4	0	1			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr9:123215780G>T	ENST00000349780.4	-	21	2926	c.2747C>A	c.(2746-2748)cCt>cAt	p.P916H	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P916H|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P884H|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P916H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	916					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTGCCACCCAGGCACCCCGTG	0.473																																					p.P916H													.	.			0			c.C2747A												80	85	83					9																	123215780		2203	4300	6503	SO:0001583	missense	55755	exon21			CACCCAGGCACCC	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2747C>A	9.37:g.123215780G>T	ENSP00000343818:p.Pro916His		53	0	0		45	0.09	4	NM_018249	48	0	0	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608594	0.46527	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.18502	3.88;3.62;3.9;3.8;2.21	5.42	3.6	0.41247	.	0.327733	0.26594	N	0.023505	T	0.24236	0.0587	L	0.32530	0.975	0.09310	N	1	D;D;D;D	0.76494	0.997;0.999;0.996;0.999	D;D;P;D	0.65874	0.912;0.939;0.819;0.912	T	0.04165	-1.0972	10	0.87932	D	0	.	5.9369	0.19171	0.171:0.1566:0.6724:0.0	.	685;916;916;310	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	H	884;916;916;916;310	ENSP00000354065:P884H;ENSP00000352258:P916H;ENSP00000343818:P916H;ENSP00000353317:P916H;ENSP00000400395:P310H	ENSP00000343818:P916H	P	-	2	0	CDK5RAP2	122255601	0.022000	0.18835	0.004000	0.12327	0.004000	0.04260	1.698000	0.37794	0.665000	0.31066	0.650000	0.86243	CCT			0.473	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000055535.1		NM_018249		T	123215780	G	T	123215780	3	4	38	1	0	0	0	0	1	0	0	0	3148	1000	35	3	3006	3	CDK5RAP2	9	123215780	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	8735257	123215780	17997651	35	2680											
ENTPD8	377841	mdanderson.org	37	chr9	140329512	140329512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggatcatcccggtcaGgttcagcatgtagcccagtg	7	8	14	12	2	3	0	3	0	0	0	4	1	4	1	3	4	2	3	3	4	1	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr9:140329512G>T	ENST00000472938.1	-	9	1358	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	ENTPD8_ENST00000371506.2_Missense_Mutation_p.L448M|ENTPD8_ENST00000344119.2_Missense_Mutation_p.L411M			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	448					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)		ATCCCGGTCAGGTTCAGCATG	0.682																																					p.L448M													.	.			0			c.C1342A												56	53	54					9																	140329512		2195	4299	6494	SO:0001583	missense	377841	exon10			CGGTCAGGTTCAG	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.1342C>A	9.37:g.140329512G>T	ENSP00000420531:p.Leu448Met		32	0	0		42	0.07	3	NM_001033113	3	0	0	A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120503	0.77323	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.14893	2.47;2.47;2.47	5.06	4.13	0.48395	.	0.101398	0.41097	D	0.000951	T	0.44767	0.1309	M	0.87971	2.92	0.48236	D	0.999612	D;D	0.71674	0.997;0.998	P;D	0.68353	0.747;0.957	T	0.51810	-0.8658	10	0.59425	D	0.04	-0.4294	13.6066	0.62050	0.0:0.0:0.8445:0.1555	.	411;448	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	M	411;448;448	ENSP00000344089:L411M;ENSP00000360561:L448M;ENSP00000420531:L448M	ENSP00000344089:L411M	L	-	1	2	ENTPD8	139449333	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	2.267000	0.43329	2.349000	0.79799	0.561000	0.74099	CTG			0.682	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355991.1		NM_198585		T	140329512	G	T	140329512	3	4	38	1	0	0	0	0	1	0	0	0	5152	991	35	3	149	3	ENTPD8	9	140329512	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	17113732	140329512	883919	36	2681											
ALOX5	240	broad.mit.edu;bcgsc.ca	37	chr10	45935962	45935962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggccaaaatctgggtgCgttccagtgacttccacgtc	7	13	10	11	2	1	1	0	1	1	0	4	1	3	1	3	2	1	1	3	2	2	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr10:45935962C>T	ENST00000374391.2	+	8	1119	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	ALOX5_ENST00000542434.1_Missense_Mutation_p.R356C	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	356	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	AATCTGGGTGCGTTCCAGTGA	0.522																																					p.R356C													.	ALOX5	88		0			c.C1066T												102	86	92					10																	45935962		2203	4300	6503	SO:0001583	missense	240	exon8			TGGGTGCGTTCCA	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1066C>T	10.37:g.45935962C>T	ENSP00000363512:p.Arg356Cys		149	0.0067114094	1		92	0.07	6	NM_001256153	32	0	0	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215825	0.79352	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90444	-2.67;-2.67	5.96	5.96	0.96718	Lipoxygenase, C-terminal (4);	0.095477	0.64402	D	0.000001	D	0.93298	0.7864	L	0.50993	1.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.983;0.996	D	0.92986	0.6410	10	0.62326	D	0.03	-21.3855	12.7994	0.57578	0.1634:0.8366:0.0:0.0	.	356;356;356	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	C	356	ENSP00000437634:R356C;ENSP00000363512:R356C	ENSP00000363512:R356C	R	+	1	0	ALOX5	45255968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.601000	0.61090	2.833000	0.97629	0.650000	0.86243	CGT			0.522	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047780.1				T	45935962	C	T	45935962	3	4	38	1	0	0	0	0	1	0	0	0	540	768	27	1	1096	1	ALOX5	10	45935962	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10		45935962	89598785	37	2682											
JMJD1C	221037	mdanderson.org	37	chr10	64928259	64928259	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgtgttaaatgaaatGactctacaagatgttctgga	12	14	9	6	0	2	3	0	2	2	1	3	4	3	4	1	1	1	3	1	1	5	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr10:64928259G>T	ENST00000399262.2	-	25	7687	c.7469C>A	c.(7468-7470)tCa>tAa	p.S2490*	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.S2253*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.S2308*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2490	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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)					TAAATGAAATGACTCTACAAG	0.373																																					p.S2490X													.	.			0			c.C7469A												72	71	71					10																	64928259		1814	4085	5899	SO:0001587	stop_gained	221037	exon25			TGAAATGACTCTA	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.7469C>A	10.37:g.64928259G>T	ENSP00000382204:p.Ser2490*		102	0	0		45	0.07	3	NM_032776	60	0	0	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	48	14.442954	0.99795	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	.	.	.	5.58	5.58	0.84498	.	0.137472	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4078	19.5672	0.95398	0.0:0.0:1.0:0.0	.	.	.	.	X	2490;2253;2308	.	ENSP00000382204:S2490X	S	-	2	0	JMJD1C	64598265	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	6.536000	0.73842	2.616000	0.88540	0.655000	0.94253	TCA			0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048249.2		NM_004241		T	64928259	G	T	64928259	4	4	38	1	0	0	0	0	0	1	0	0	7965	1294	45	3	161	3	JMJD1C	10	64928259	Nonsense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	18992297	64928259	70606488	38	2683											
DLG5	9231	mdanderson.org	37	chr10	79581756	79581756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttccgtttgttatgaGcctggacctccgggccatgg	6	12	12	11	2	1	1	1	1	0	0	3	2	3	2	5	3	1	3	5	3	2	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr10:79581756G>T	ENST00000372391.2	-	15	2491	c.2486C>A	c.(2485-2487)gCt>gAt	p.A829D	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	829					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)			TTTGTTATGAGCCTGGACCTC	0.512																																					p.A829D													.	.			0			c.C2486A												133	134	133					10																	79581756		2203	4300	6503	SO:0001583	missense	9231	exon15			TTATGAGCCTGGA	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.2486C>A	10.37:g.79581756G>T	ENSP00000361467:p.Ala829Asp		57	0	0		45	0.07	3	NM_004747	55	0	0	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252568	0.80135	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04862	3.54	5.66	4.76	0.60689	.	0.000000	0.38837	N	0.001551	T	0.13114	0.0318	L	0.27053	0.805	0.80722	D	1	D;P	0.69078	0.997;0.893	D;P	0.65233	0.933;0.482	T	0.08146	-1.0736	10	0.40728	T	0.16	.	14.4571	0.67423	0.0706:0.0:0.9294:0.0	.	719;829	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	D	829;378	ENSP00000361467:A829D	ENSP00000361467:A829D	A	-	2	0	DLG5	79251762	1.000000	0.71417	0.697000	0.30258	0.797000	0.45037	4.222000	0.58580	1.410000	0.46936	0.609000	0.83330	GCT			0.512	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048900.2				T	79581756	G	T	79581756	3	4	38	1	0	0	0	0	1	0	0	0	4563	971	34	2	3345	2	DLG5	10	79581756	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	14653497	79581756	55952991	39	2684											
ITPRIP	85450	mdanderson.org	37	chr10	106075100	106075100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctggccgtagccctggCgatccaggggcactgagcgg	6	7	16	12	3	1	2	0	2	1	0	2	3	2	2	3	5	2	2	3	5	1	1	rs150063098		TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr10:106075100C>T	ENST00000337478.1	-	2	881	c.710G>A	c.(709-711)cGc>cAc	p.R237H	ITPRIP_ENST00000278071.2_Missense_Mutation_p.R237H|ITPRIP_ENST00000358187.2_Missense_Mutation_p.R237H|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	237						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GTAGCCCTGGCGATCCAGGGG	0.647																																					p.R237H													.	.			0			c.G710A							C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	37	39	38		710	4.3	1	10	dbSNP_134	38	0,8600		0,0,4300	yes	missense	ITPRIP	NM_033397.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	237/548	106075100	1,13005	2203	4300	6503	SO:0001583	missense	85450	exon2			CCCTGGCGATCCA	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.710G>A	10.37:g.106075100C>T	ENSP00000337178:p.Arg237His		62	0	0		42	0.07	3	NM_001272013	7	0	0	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	CCDS7557.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.84	2.358125	0.41801	2.27E-4	0.0	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.24538	1.85;1.85;1.85	5.25	4.3	0.51218	.	0.517494	0.21234	N	0.077928	T	0.19765	0.0475	L	0.57536	1.79	0.27131	N	0.961907	D	0.58268	0.982	B	0.38296	0.27	T	0.40232	-0.9574	10	0.62326	D	0.03	-26.9789	4.3821	0.11299	0.2007:0.6111:0.0:0.1882	.	237	Q8IWB1	IPRI_HUMAN	H	237	ENSP00000337178:R237H;ENSP00000278071:R237H;ENSP00000350915:R237H	ENSP00000278071:R237H	R	-	2	0	ITPRIP	106065090	0.995000	0.38212	1.000000	0.80357	0.896000	0.52359	0.785000	0.26830	2.601000	0.87937	0.467000	0.42956	CGC	0		0.647	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050204.1		NM_033397		T	106075100	C	T	106075100	3	4	38	1	0	0	0	0	1	0	0	0	7938	768	27	1	937	1	ITPRIP	10	106075100	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	26493344	106075100	29459647	40	2685											
OR6A2	8590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	6816325	6816325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaataaaaatggccaggatGaaatctgtaagctctgctgt	15	10	10	6	0	2	2	0	1	2	1	2	3	2	3	1	2	2	3	1	2	6	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:6816325G>A	ENST00000332601.3	-	1	803	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	205					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCCAGGATGAAATCTGTAA	0.493																																					p.F205F													.	.			0			c.C615T												110	116	114					11																	6816325		2201	4296	6497	SO:0001819	synonymous_variant	8590	exon1			CAGGATGAAATCT	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.615C>T	11.37:g.6816325G>A			42	0	0		56	0.52	29	NM_003696	0		0	Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	CCDS7772.1																																																																																					0.493	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385981.1		NM_003696		A	6816325	G	A	6816325	2	1	38	1	0	0	0	0	0	0	0	1	11203	1281	45	3		3	OR6A2	11	6816325	Silent	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		6816325	128190191	41	2686											
LMO1	4004	mdanderson.org	37	chr11	8252027	8252027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcccttctgcttccctttgGgctggacggagagcatcggc	5	10	13	13	2	1	1	0	0	1	1	3	3	2	2	2	4	3	3	2	4	0	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:8252027G>T	ENST00000335790.3	-	2	545	c.50C>A	c.(49-51)cCc>cAc	p.P17H	LMO1_ENST00000428101.2_Missense_Mutation_p.P16H|LMO1_ENST00000534484.1_Missense_Mutation_p.P6H	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	17					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		CTTCCCTTTGGGCTGGACGGA	0.587			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma																															p.P17H			yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	.	.			0			c.C50A												105	111	109					11																	8252027		2199	4296	6495	SO:0001583	missense	4004	exon2			CCTTTGGGCTGGA	M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.50C>A	11.37:g.8252027G>T	ENSP00000338207:p.Pro17His		43	0	0		49	0.06	3	NM_002315	0		0	E9PSF5|Q4VBC5|Q8IXR0	Missense_Mutation	SNP	ENST00000335790.3	37	CCDS44534.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719995	0.89205	.	.	ENSG00000166407	ENST00000335790;ENST00000428101;ENST00000534484	T;T;T	0.32272	1.47;1.46;1.56	5.36	5.36	0.76844	.	0.119734	0.64402	D	0.000016	T	0.41949	0.1181	M	0.71036	2.16	0.80722	D	1	P;P	0.44344	0.833;0.833	P;P	0.44447	0.45;0.45	T	0.44907	-0.9297	10	0.72032	D	0.01	.	17.275	0.87112	0.0:0.0:1.0:0.0	.	16;17	E9PSF5;P25800	.;RBTN1_HUMAN	H	17;16;6	ENSP00000338207:P17H;ENSP00000404538:P16H;ENSP00000435456:P6H	ENSP00000338207:P17H	P	-	2	0	LMO1	8208603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.496000	0.97967	2.533000	0.85409	0.655000	0.94253	CCC			0.587	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000386503.2		NM_002315		T	8252027	G	T	8252027	3	4	38	1	0	0	0	0	1	0	0	0	8866	1232	43	3	432	3	LMO1	11	8252027	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	1435702	8252027	126754489	42	2687											
TRIM44	54765	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	35684815	35684815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcgcacaggcagaagttCctcagtcaccatctggccga	10	6	12	13	2	3	1	2	0	1	1	4	3	4	1	3	3	0	3	3	3	1	1			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:35684815C>A	ENST00000299413.5	+	1	463	c.156C>A	c.(154-156)ttC>ttA	p.F52L	RP1-276E15.1_ENST00000525573.2_lincRNA	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	52						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				GGCAGAAGTTCCTCAGTCACC	0.677																																					p.F52L													.	.			0			c.C156A												52	54	54					11																	35684815		2202	4298	6500	SO:0001583	missense	54765	exon1			GAAGTTCCTCAGT	BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19016	protein-coding gene	gene with protein product		612298	"tripartite motif-containing 44"				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.156C>A	11.37:g.35684815C>A	ENSP00000299413:p.Phe52Leu		44	0	0		51	0.33	17	NM_017583	41	0.2	8	D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	37	CCDS31461.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042363	0.55003	.	.	ENSG00000166326	ENST00000299413	T	0.30182	1.54	4.76	4.76	0.60689	.	0.000000	0.36134	N	0.002778	T	0.17831	0.0428	N	0.08118	0	0.33102	D	0.53932	P	0.42692	0.787	B	0.38056	0.264	T	0.26985	-1.0087	10	0.62326	D	0.03	-8.1467	15.2628	0.73637	0.0:1.0:0.0:0.0	.	52	Q96DX7	TRI44_HUMAN	L	52	ENSP00000299413:F52L	ENSP00000299413:F52L	F	+	3	2	TRIM44	35641391	0.996000	0.38824	0.943000	0.38184	0.303000	0.27691	3.575000	0.53870	2.169000	0.68431	0.555000	0.69702	TTC			0.677	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389081.1		NM_017583		A	35684815	C	A	35684815	3	1	38	1	0	0	0	0	1	0	0	0	16543	854	30	3	158	3	TRIM44	11	35684815	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	27432788	35684815	99321701	43	2688											
RTN4RL2	349667	mdanderson.org	37	chr11	57244302	57244302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcctgccaggcgccccCggactcccgaggccctgcgc	3	4	13	21	5	0	0	0	0	0	0	1	2	1	1	6	3	3	1	6	3	0	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:57244302C>G	ENST00000335099.3	+	3	1498	c.1181C>G	c.(1180-1182)cCg>cGg	p.P394R	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGGCGCCCCCGGACTCCCGA	0.726																																					p.P394R													.	.			0			c.C1181G												11	14	13					11																	57244302		2046	4053	6099	SO:0001583	missense	349667	exon3			CGCCCCCGGACTC	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.1181C>G	11.37:g.57244302C>G	ENSP00000335397:p.Pro394Arg		13	0	0		20	0.15	3	NM_178570	5	0	0		Missense_Mutation	SNP	ENST00000335099.3	37	CCDS7957.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401112	0.25291	.	.	ENSG00000186907	ENST00000335099	T	0.57273	0.41	3.03	1.96	0.26148	.	.	.	.	.	T	0.26882	0.0658	N	0.14661	0.345	0.80722	D	1	P	0.51351	0.944	B	0.38327	0.271	T	0.02581	-1.1138	9	0.26408	T	0.33	.	5.9088	0.19016	0.0:0.7436:0.0:0.2564	.	394	Q86UN3	R4RL2_HUMAN	R	394	ENSP00000335397:P394R	ENSP00000335397:P394R	P	+	2	0	RTN4RL2	57000878	0.544000	0.26441	0.979000	0.43373	0.403000	0.30841	1.384000	0.34396	1.540000	0.49301	0.306000	0.20318	CCG			0.726	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392537.1		NM_178570		G	57244302	C	G	57244302	3	3	38	1	0	0	0	0	1	0	0	0	13755	652	23	5	1191	5	RTN4RL2	11	57244302	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	21559487	57244302	77762214	44	2689											
DAK	26007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	61111415	61111415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggtagcccctgccgagcCccaggaggcccctgattcca	6	5	12	18	2	0	1	0	1	0	0	1	3	1	2	9	3	3	1	9	3	1	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:61111415C>A	ENST00000394900.3	+	12	1299	c.1070C>A	c.(1069-1071)cCc>cAc	p.P357H		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	357					carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CCTGCCGAGCCCCAGGAGGCC	0.632																																					p.P357H													.	.			0			c.C1070A												48	56	53					11																	61111415		2203	4299	6502	SO:0001583	missense	26007	exon12			CCGAGCCCCAGGA		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1070C>A	11.37:g.61111415C>A	ENSP00000378360:p.Pro357His		25	0	0		32	0.47	15	NM_015533	102	0.67	68	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254193	0.80135	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.30981	1.51;1.51	5.84	3.85	0.44370	Dak phosphatase (1);	0.574862	0.19054	N	0.123941	T	0.17746	0.0426	N	0.08118	0	0.09310	N	1	P;P	0.47910	0.703;0.902	B;P	0.48840	0.246;0.592	T	0.06734	-1.0810	10	0.39692	T	0.17	-29.7947	3.2298	0.06745	0.2411:0.4375:0.2376:0.0838	.	357;357	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	H	357;356	ENSP00000378360:P357H;ENSP00000432539:P356H	ENSP00000378360:P357H	P	+	2	0	DAK	60867991	0.226000	0.23696	0.563000	0.28383	0.448000	0.32197	0.821000	0.27338	2.779000	0.95612	0.655000	0.94253	CCC			0.632	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394425.4		NM_015533		A	61111415	C	A	61111415	3	1	38	1	0	0	0	0	1	0	0	0	4230	623	22	3	1112	3	DAK	11	61111415	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	3867113	61111415	73895101	45	2690											
CHRM1	1128	mdanderson.org	37	chr11	62677783	62677783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcctgggggcccGgcagcagcgacagcagcggc	7	2	17	15	3	0	0	0	0	0	0	0	1	0	0	2	4	7	5	2	4	0	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:62677783G>A	ENST00000306960.3	-	2	1331	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	264					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CTGGGGGCCCGGCAGCAGCGA	0.657																																					p.R264W													.	.			0			c.C790T																																									SO:0001583	missense	1128	exon2			GGGCCCGGCAGCA	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.790C>T	11.37:g.62677783G>A	ENSP00000306490:p.Arg264Trp		41	0	0		51	0.08	4	NM_000738	0		0	Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	G	8.142	0.785477	0.16189	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.60548	0.21;0.18	4.72	0.212	0.15240	GPCR, rhodopsin-like superfamily (1);	0.429938	0.18600	N	0.136479	T	0.44871	0.1314	L	0.48362	1.52	0.26108	N	0.98072	B	0.06786	0.001	B	0.01281	0.0	T	0.41124	-0.9526	10	0.62326	D	0.03	-12.9274	6.6667	0.23044	0.0914:0.0:0.4721:0.4365	.	264	P11229	ACM1_HUMAN	W	264	ENSP00000306490:R264W;ENSP00000441188:R264W	ENSP00000306490:R264W	R	-	1	2	CHRM1	62434359	0.507000	0.26146	0.533000	0.28001	0.796000	0.44982	0.774000	0.26675	0.176000	0.19873	-0.261000	0.10672	CGG			0.657	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396178.1		NM_000738		A	62677783	G	A	62677783	3	1	38	1	0	0	0	0	1	0	0	0	3378	1115	39	1	596	1	CHRM1	11	62677783	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	1566368	62677783	72328733	46	2691											
ANO1	55107	broad.mit.edu	37	chr11	69951865	69951865	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgtctgataaggattccTttttcgacagcaaaacccgg	11	12	8	10	2	1	1	0	1	1	0	3	3	2	2	2	2	2	1	2	2	3	5			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:69951865T>C	ENST00000355303.5	+	5	1023	c.718T>C	c.(718-720)Ttt>Ctt	p.F240L	ANO1_ENST00000538023.1_Missense_Mutation_p.F240L|ANO1_ENST00000530676.1_Missense_Mutation_p.F124L|ANO1_ENST00000398543.2_Missense_Mutation_p.F124L|ANO1_ENST00000316296.5_Missense_Mutation_p.F212L|ANO1_ENST00000531349.1_5'Flank	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	240					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.F240L(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TAAGGATTCCTTTTTCGACAG	0.493																																					p.F240L													ANO1_ENST00000355303,NS,carcinoma,0,2	ANO1	156	2	2	Substitution - Missense(2)	kidney(2)	c.T718C												107	106	106					11																	69951865		1921	4124	6045	SO:0001583	missense	55107	exon5			GATTCCTTTTTCG	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.718T>C	11.37:g.69951865T>C	ENSP00000347454:p.Phe240Leu		145	0	0		118	0.03	3	NM_018043	1	0	0	A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581482	0.46006	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.79258	2.445	0.80722	D	1	D;P	0.76494	0.999;0.849	D;B	0.85130	0.997;0.411	D	0.84699	0.0727	9	.	.	.	.	14.2923	0.66286	0.0:0.0:0.0:1.0	.	212;240	Q5XXA6-3;Q5XXA6	.;ANO1_HUMAN	L	240;240;124;24;207;212;124	ENSP00000347454:F240L;ENSP00000444689:F240L;ENSP00000381551:F124L;ENSP00000436392:F207L;ENSP00000319477:F212L;ENSP00000435797:F124L	.	F	+	1	0	ANO1	69629513	1.000000	0.71417	0.998000	0.56505	0.056000	0.15407	7.300000	0.78841	1.975000	0.57531	0.528000	0.53228	TTT			0.493	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000393685.1		NM_018043		C	69951865	T	C	69951865	3	2	38	1	0	0	0	0	1	0	0	0	695	1609	56	4	736	4	ANO1	11	69951865	Missense_Mutation	SNP	T	TCGA-2G-AAGT-01A-11D-A42Y-10	7274082	69951865	65054651	47	2692											
MAML2	84441	broad.mit.edu;mdanderson.org	37	chr11	95825254	95825254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttgctgctgctgctgCtgttgttgctgctgctgctg	0	18	14	9	0	0	0	0	0	0	0	0	0	0	0	0	0	9	13	0	0	0	4	rs61749250		TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:95825254C>T	ENST00000524717.1	-	2	3225	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	647					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q647Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgttgttgct	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q647Q				Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,caecum,carcinoma,0,2	MAML2	94	2	1	Substitution - coding silent(1)	endometrium(1)	c.G1941A							C		0,4198		0,0,2099	35	40	38		1941	1.7	0.1	11	dbSNP_129	38	5,8237		0,5,4116	no	coding-synonymous	MAML2	NM_032427.1		0,5,6215	TT,TC,CC		0.0607,0.0,0.0402		647/1157	95825254	5,12435	2099	4121	6220	SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGTTGT	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1941G>A	11.37:g.95825254C>T			63	0.0158730159	1		74	0.05	4	NM_032427	12	0	0	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																					0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395540.1				T	95825254	C	T	95825254	2	4	38	1	0	0	0	0	0	0	0	1	9222	796	28	2		2	MAML2	11	95825254	Silent	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	25873389	95825254	39181262	48	2693											
GRIA4	2893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	105797664	105797664	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaacaaaagaattcttcaGagtaagttaagggaaaaact	20	9	7	5	0	3	2	2	0	1	2	3	3	3	3	0	1	2	2	0	1	8	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:105797664G>C	ENST00000530497.1	+	12	2045	c.2045G>C	c.(2044-2046)aGa>aCa	p.R682T	GRIA4_ENST00000282499.5_Splice_Site_p.R682T|GRIA4_ENST00000525187.1_Splice_Site_p.R682T|GRIA4_ENST00000393127.2_Splice_Site_p.R682T			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	682					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)		GAATTCTTCAGAGTAAGTTAA	0.353																																					p.R682T													.	.			0			c.G2045C												46	43	44					11																	105797664		2202	4298	6500	SO:0001630	splice_region_variant	2893	exon13			TCTTCAGAGTAAG	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.2046+1G>C	11.37:g.105797664G>C			96	0	0		88	0.31	27	NM_001077243	0		0	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172860	0.57584	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.53	5.53	0.82687	Ionotropic glutamate receptor (2);	0.060481	0.64402	D	0.000002	T	0.57917	0.2086	M	0.86097	2.795	0.58432	D	0.999999	B;P	0.36712	0.433;0.566	B;P	0.46172	0.263;0.506	T	0.62393	-0.6864	10	0.62326	D	0.03	.	13.0845	0.59132	0.0736:0.0:0.9264:0.0	.	682;682	P48058;G3V164	GRIA4_HUMAN;.	T	682	ENSP00000282499:R682T;ENSP00000376835:R682T;ENSP00000435775:R682T;ENSP00000432180:R682T	ENSP00000282499:R682T	R	+	2	0	GRIA4	105302874	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.821000	0.75272	2.756000	0.94617	0.655000	0.94253	AGA			0.353	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000388593.1			Missense_Mutation	C	105797664	G	C	105797664	5	2	38	1	0	0	0	0	0	0	1	0	6785	956	33	5	2128	5	GRIA4	11	105797664	Splice_Site	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	9972410	105797664	29208852	49	2694											
BCO2	83875	mdanderson.org	37	chr11	112050195	112050195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctgggaaattcgagtttGggaaggataagtaagccttg	12	10	14	5	1	0	0	0	0	0	0	1	5	0	3	2	3	1	2	2	3	4	5			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:112050195G>T	ENST00000357685.5	+	2	418	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	BCO2_ENST00000532593.1_Intron|AP002884.3_ENST00000532612.1_Missense_Mutation_p.G66W|BCO2_ENST00000393032.2_Missense_Mutation_p.G61W|BCO2_ENST00000531169.1_Missense_Mutation_p.G61W|BCO2_ENST00000438022.1_Missense_Mutation_p.G61W|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000361053.4_Missense_Mutation_p.G95W|SDHD_ENST00000525468.1_Intron|BCO2_ENST00000526088.1_Missense_Mutation_p.G61W			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	95					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATTCGAGTTTGGGAAGGATAA	0.473																																					p.G95W	GBM(177;1916 2099 21049 29541 39946)												.	.			0			c.G283T												71	69	70					11																	112050195		2201	4297	6498	SO:0001583	missense	83875	exon2			GAGTTTGGGAAGG	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.283G>T	11.37:g.112050195G>T	ENSP00000350314:p.Gly95Trp		58	0	0		41	0.07	3	NM_001256398	1	0	0	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121206	0.77436	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000531169	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.53	5.53	0.82687	.	0.049032	0.85682	D	0.000000	D	0.98305	0.9438	M	0.93638	3.44	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	0.99308	1.0903	9	.	.	.	-22.4217	16.3772	0.83410	0.0:0.0:1.0:0.0	.	72;95;95	C9JEZ9;E9PBI8;Q9BYV7	.;.;BCDO2_HUMAN	W	95;61;95;61;61;61	ENSP00000350314:G95W;ENSP00000376752:G61W;ENSP00000354338:G95W;ENSP00000414843:G61W;ENSP00000436615:G61W;ENSP00000437053:G61W	.	G	+	1	0	BCO2	111555405	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.594000	0.54008	2.613000	0.88420	0.655000	0.94253	GGG			0.473	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256570.3		NM_001037290		T	112050195	G	T	112050195	3	4	38	1	0	0	0	0	1	0	0	0	1385	1348	47	3	289	3	BCO2	11	112050195	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	6252531	112050195	22956321	50	2695											
DSCAML1	57453	mdanderson.org	37	chr11	117376428	117376428	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgggtgggaattcgaaGggctggatcagagggggcac	9	5	21	6	2	1	1	1	0	0	1	2	5	1	3	0	7	0	2	0	7	2	1			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr11:117376428G>T	ENST00000321322.6	-	9	1984	c.1983C>A	c.(1981-1983)ccC>ccA	p.P661P	DSCAML1_ENST00000527706.1_Silent_p.P391P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	601	Ig-like C2-type 7.				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)		GGAATTCGAAGGGCTGGATCA	0.642																																					p.P661P													.	.			0			c.C1983A												57	49	52					11																	117376428		2201	4296	6497	SO:0001819	synonymous_variant	57453	exon9			TTCGAAGGGCTGG		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.1983C>A	11.37:g.117376428G>T			20	0	0		15	0.2	3	NM_020693	15	0	0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																					0.642	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392907.2		NM_020693		T	117376428	G	T	117376428	2	4	38	1	0	0	0	0	0	0	0	1	4774	987	35	3		3	DSCAML1	11	117376428	Silent	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	5326233	117376428	17630088	51	2696											
UTP20	27340	mdanderson.org	37	chr12	101763632	101763632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagctcggggccgccaGgggccagaacttccaccttg	8	6	13	14	2	0	1	0	0	0	1	2	1	1	1	5	4	3	2	5	4	2	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr12:101763632G>T	ENST00000261637.4	+	49	6692	c.6518G>T	c.(6517-6519)aGg>aTg	p.R2173M		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2173					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						GGGGCCGCCAGGGGCCAGAAC	0.512																																					p.R2173M													.	.			0			c.G6518T												106	117	113					12																	101763632		2203	4300	6503	SO:0001583	missense	27340	exon49			CCGCCAGGGGCCA	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.6518G>T	12.37:g.101763632G>T	ENSP00000261637:p.Arg2173Met		57	0	0		46	0.07	3	NM_014503	35	0	0	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474924	0.63737	.	.	ENSG00000120800	ENST00000261637	T	0.66099	-0.19	5.58	-3.73	0.04398	Armadillo-type fold (1);	0.500761	0.23748	N	0.044946	T	0.53965	0.1829	L	0.46157	1.445	0.37472	D	0.915666	P	0.45348	0.856	B	0.43536	0.423	T	0.59669	-0.7411	10	0.46703	T	0.11	-2.3665	15.423	0.75028	0.8631:0.0:0.1369:0.0	.	2173	O75691	UTP20_HUMAN	M	2173	ENSP00000261637:R2173M	ENSP00000261637:R2173M	R	+	2	0	UTP20	100287763	0.733000	0.28132	0.740000	0.30986	0.985000	0.73830	0.070000	0.14573	-0.821000	0.04312	-0.145000	0.13849	AGG			0.512	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408242.1		NM_014503		T	101763632	G	T	101763632	3	4	38	1	0	0	0	0	1	0	0	0	17123	1000	35	3	6712	3	UTP20	12	101763632	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		101763632	32088263	52	2697											
RPLP0	6175	hgsc.bcm.edu;bcgsc.ca	37	chr12	120634676	120634690	+	In_Frame_Del	DEL	GTGGCAGCAGCCACA	GTGGCAGCAGCCACA	-																															cagcagcaggagcagctgtgGtggcagcagccacaggggca																								rs572058538	byFrequency	TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	GTGGCAGCAGCCACA	GTGGCAGCAGCCACA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr12:120634676_120634690delGTGGCAGCAGCCACA	ENST00000551150.1	-	7	1155_1169	c.840_854delTGTGGCTGCTGCCAC	c.(838-855)cctgtggctgctgccacc>ccc	p.VAAAT281del	RPLP0_ENST00000313104.5_In_Frame_Del_p.VAAAT219del|RPLP0_ENST00000392514.4_In_Frame_Del_p.VAAAT281del|RPLP0_ENST00000552292.1_In_Frame_Del_p.VAAAT71del|RPLP0_ENST00000546989.1_In_Frame_Del_p.VAAAT245del|RPLP0_ENST00000228306.4_In_Frame_Del_p.VAAAT281del|GCN1L1_ENST00000300648.6_5'Flank|RPLP0_ENST00000550296.1_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	281					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)|ribosome biogenesis (GO:0042254)|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)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					agcagctgtggtggcagcagccacaggggcagcag	0.558																																					p.281_285del													.	RPLP0	27		0			c.841_855del																																									SO:0001651	inframe_deletion	6175	exon8			GCTGTGGTGGCAG	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.840_854delTGTGGCTGCTGCCAC	12.37:g.120634676_120634690delGTGGCAGCAGCCACA	ENSP00000449328:p.Val281_Thr285del		225	0	0		211	0.28	59	NM_053275	4632	0	0	Q3B7A4|Q9BVK4	In_Frame_Del	DEL	ENST00000551150.1	37	CCDS9193.1																																																																																					0.558	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403448.3		NM_053275		-	120634690	GTGGCAGCAGCCACA	-	120634676	7	5	38	1	0	1	0	1	0	0	0	0	13627	1261	44	0	103	0	RPLP0	12	120634676	In_Frame_Del	DEL	GTGGCAGCAGCCACA	TCGA-2G-AAGT-01A-11D-A42Y-10	18871044	120634676	13217219	53	2698											
LAMP1	3916	mdanderson.org	37	chr13	113965084	113965084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagataaaaaatacagatGtgttagtggcacccaggtcc	15	10	9	7	0	0	2	0	0	0	2	1	2	1	2	2	2	1	2	2	2	7	5			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr13:113965084G>T	ENST00000332556.4	+	4	658	c.464G>T	c.(463-465)tGt>tTt	p.C155F	LAMP1_ENST00000397181.3_Intron	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	155	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AAATACAGATGTGTTAGTGGC	0.423																																					p.C155F													.	.			0			c.G464T												102	108	106					13																	113965084		2145	4244	6389	SO:0001583	missense	3916	exon4			ACAGATGTGTTAG	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.464G>T	13.37:g.113965084G>T	ENSP00000333298:p.Cys155Phe		57	0	0		38	0.08	3	NM_005561	522	0	0	B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975167	0.34848	.	.	ENSG00000185896	ENST00000332556	T	0.39592	1.07	5.53	5.53	0.82687	.	0.103006	0.64402	D	0.000002	T	0.69726	0.3143	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75852	-0.3171	10	0.87932	D	0	-12.0266	13.0449	0.58920	0.0:0.0:0.8389:0.1611	.	155	P11279	LAMP1_HUMAN	F	155	ENSP00000333298:C155F	ENSP00000333298:C155F	C	+	2	0	LAMP1	113013085	0.996000	0.38824	0.779000	0.31741	0.011000	0.07611	4.818000	0.62657	2.599000	0.87857	0.563000	0.77884	TGT			0.423	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045876.2				T	113965084	G	T	113965084	3	4	38	1	0	0	0	0	1	0	0	0	8632	1377	48	3	478	3	LAMP1	13	113965084	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		113965084	1204794	54	2699											
RPGRIP1	57096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	21798426	21798426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgaattacactgagTggaagttctcagagactaac	14	9	11	7	0	1	3	1	2	1	1	2	5	1	4	0	2	3	2	0	2	4	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr14:21798426T>C	ENST00000400017.2	+	19	3118	c.3118T>C	c.(3118-3120)Tgg>Cgg	p.W1040R	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.W1002R|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.W399R|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.W366R|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.W1040R|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.W697R	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1040					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTACACTGAGTGGAAGTTCTC	0.388																																					p.W1040R													.	.			0			c.T3118C												148	142	144					14																	21798426		1855	4096	5951	SO:0001583	missense	57096	exon19			ACTGAGTGGAAGT	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3118T>C	14.37:g.21798426T>C	ENSP00000382895:p.Trp1040Arg		50	0	0		35	0.46	16	NM_020366	0		0	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	T	3.761	-0.049623	0.07407	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;T;T;T;T;T;T	0.78003	-0.05;-0.82;-0.86;-0.86;-0.39;-1.14;-1.14	3.91	3.91	0.45181	.	1.033030	0.07602	N	0.923752	T	0.75642	0.3877	M	0.63428	1.95	0.29101	N	0.88148	B;B;B;B;B;P	0.51351	0.0;0.001;0.0;0.032;0.0;0.944	B;B;B;B;B;B	0.44044	0.001;0.002;0.002;0.034;0.002;0.439	T	0.64651	-0.6357	10	0.20519	T	0.43	-0.6601	9.4345	0.38630	0.0:0.0:0.0:1.0	.	423;399;515;366;656;1040	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	R	697;1002;1040;1040;366;515;399	ENSP00000450445:W697R;ENSP00000451219:W1002R;ENSP00000382895:W1040R;ENSP00000206660:W1040R;ENSP00000372391:W366R;ENSP00000451262:W515R;ENSP00000309721:W399R	ENSP00000206660:W1040R	W	+	1	0	RPGRIP1	20868266	0.680000	0.27605	0.996000	0.52242	0.244000	0.25665	0.765000	0.26546	2.019000	0.59389	0.472000	0.43445	TGG			0.388	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410258.1		NM_020366		C	21798426	T	C	21798426	3	2	38	1	0	0	0	0	1	0	0	0	13572	1696	59	4	3192	4	RPGRIP1	14	21798426	Missense_Mutation	SNP	T	TCGA-2G-AAGT-01A-11D-A42Y-10		21798426	85551114	55	2700											
PRKCH	5583	mdanderson.org	37	chr14	62016448	62016448	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaccctgacttcataaagGaagagccagttttaactcca	13	11	7	10	0	1	3	1	2	0	1	2	4	2	4	3	1	2	1	3	1	4	5			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr14:62016448G>T	ENST00000332981.5	+	14	2336	c.1951G>T	c.(1951-1953)Gaa>Taa	p.E651*	PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Intron|PRKCH_ENST00000555082.1_Nonsense_Mutation_p.E490*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	651	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTTCATAAAGGAAGAGCCAGT	0.393																																					p.E651X	Melanoma(135;863 1779 8064 14443 26348)												.	.			0			c.G1951T												141	144	143					14																	62016448		2203	4300	6503	SO:0001587	stop_gained	5583	exon14			ATAAAGGAAGAGC	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1951G>T	14.37:g.62016448G>T	ENSP00000329127:p.Glu651*		64	0	0		27	0.11	3	NM_006255	11	0	0	B4DJN5|Q16246|Q8NE03	Nonsense_Mutation	SNP	ENST00000332981.5	37	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	42	9.396273	0.99158	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	.	.	.	5.6	4.71	0.59529	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.976	0.80063	0.0:0.0:0.8643:0.1357	.	.	.	.	X	651;490	.	ENSP00000329127:E651X	E	+	1	0	PRKCH	61086201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.808000	0.99193	1.360000	0.45960	0.655000	0.94253	GAA			0.393	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276974.2		NM_006255		T	62016448	G	T	62016448	4	4	38	1	0	0	0	0	0	1	0	0	12533	1175	41	3	2005	3	PRKCH	14	62016448	Nonsense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	40218022	62016448	45333092	56	2701											
PLEKHH1	57475	mdanderson.org	37	chr14	68024067	68024067	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcaccggaaataccaaGaattgctgaaagccataaag	16	6	9	10	1	0	2	0	1	0	1	0	3	0	3	4	1	4	2	4	1	7	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr14:68024067G>T	ENST00000329153.5	+	4	403	c.271G>T	c.(271-273)Gaa>Taa	p.E91*		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	91						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GAAATACCAAGAATTGCTGAA	0.498																																					p.E91X													.	.			0			c.G271T												76	81	80					14																	68024067		1947	4146	6093	SO:0001587	stop_gained	57475	exon4			TACCAAGAATTGC	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.271G>T	14.37:g.68024067G>T	ENSP00000330278:p.Glu91*		39	0	0		33	0.09	3	NM_020715	17	0	0	A6H8X6|Q6PJL4|Q6ZWC7	Nonsense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089385	0.94149	.	.	ENSG00000054690	ENST00000329153	.	.	.	5.41	5.41	0.78517	.	0.153604	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	12.2858	0.54791	0.0:0.17:0.83:0.0	.	.	.	.	X	91	.	ENSP00000330278:E91X	E	+	1	0	PLEKHH1	67093820	1.000000	0.71417	0.992000	0.48379	0.517000	0.34286	6.130000	0.71663	2.826000	0.97356	0.561000	0.74099	GAA			0.498	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412730.3		XM_031054		T	68024067	G	T	68024067	4	4	38	1	0	0	0	0	0	1	0	0	12093	943	33	3	281	3	PLEKHH1	14	68024067	Nonsense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	6007619	68024067	39325473	57	2702											
ZDHHC22	283576	broad.mit.edu	37	chr14	77600225	77600225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcagaagccggcgcagGccaggccgatggcgaaccag	10	1	17	13	4	0	1	0	0	0	1	0	3	0	1	4	5	3	3	4	5	2	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr14:77600225G>T	ENST00000319374.4	-	3	795	c.593C>A	c.(592-594)gCc>gAc	p.A198D	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	198					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GCCGGCGCAGGCCAGGCCGAT	0.677																																					p.A198D													.	ZDHHC22	30		0			c.C593A												24	31	29					14																	77600225		2015	4180	6195	SO:0001583	missense	283576	exon3			GCGCAGGCCAGGC	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"Zinc fingers, DHHC-type"	20106	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 59"	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.593C>A	14.37:g.77600225G>T	ENSP00000318222:p.Ala198Asp		87	0	0		72	0.08	6	NM_174976	0		0	A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	37	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437422	0.83885	.	.	ENSG00000177108	ENST00000319374	T	0.25250	1.81	5.27	5.27	0.74061	.	.	.	.	.	T	0.50086	0.1595	M	0.69523	2.12	0.46701	D	0.999162	D	0.71674	0.998	D	0.66351	0.943	T	0.42949	-0.9421	9	0.36615	T	0.2	.	18.894	0.92416	0.0:0.0:1.0:0.0	.	198	Q8N966	ZDH22_HUMAN	D	198	ENSP00000318222:A198D	ENSP00000318222:A198D	A	-	2	0	ZDHHC22	76669978	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.195000	0.77798	2.445000	0.82738	0.561000	0.74099	GCC			0.677	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414289.1		NM_174976		T	77600225	G	T	77600225	3	4	38	1	0	0	0	0	1	0	0	0	17636	1203	42	2	202	2	ZDHHC22	14	77600225	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	9576158	77600225	29749315	58	2703											
DLK1	8788	ucsc.edu;bcgsc.ca	37	chr14	101195284	101195284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccattgcaggtgccagcctgGctggcagggtcccctttgtg	4	10	14	13	0	0	0	0	0	0	0	1	0	1	0	5	4	3	3	5	4	0	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr14:101195284G>A	ENST00000341267.4	+	3	385	c.143G>A	c.(142-144)gGc>gAc	p.G48D	DLK1_ENST00000556051.1_Missense_Mutation_p.G48D|DLK1_ENST00000331224.6_Missense_Mutation_p.G48D	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	48	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGCCAGCCTGGCTGGCAGGGT	0.622																																					p.G48D													.	DLK1	57		0			c.G143A												96	102	100					14																	101195284		2203	4300	6503	SO:0001583	missense	8788	exon3			AGCCTGGCTGGCA	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.143G>A	14.37:g.101195284G>A	ENSP00000340292:p.Gly48Asp		42	0	0		36	0.11	4	NM_003836	13	0	0	P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759531	0.89932	.	.	ENSG00000185559	ENST00000392848;ENST00000341267;ENST00000331224;ENST00000556051	D;T;T;D	0.88124	-2.34;-1.32;2.51;-2.34	4.41	4.41	0.53225	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96498	0.9369	10	0.87932	D	0	.	16.0144	0.80425	0.0:0.0:1.0:0.0	.	48;48	P80370-2;P80370	.;DLK1_HUMAN	D	48	ENSP00000376589:G48D;ENSP00000340292:G48D;ENSP00000331081:G48D;ENSP00000450821:G48D	ENSP00000331081:G48D	G	+	2	0	DLK1	100265037	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.726000	0.98782	2.021000	0.59480	0.591000	0.81541	GGC			0.622	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414389.1				A	101195284	G	A	101195284	3	1	38	1	0	0	0	0	1	0	0	0	4569	1203	42	2	153	2	DLK1	14	101195284	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	23595059	101195284	6154256	59	2704											
PPP1R14D	54866	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr15	41108371	41108371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagcccccatcctacctcCagctgagtcttctgctcctc	5	12	5	19	0	3	1	0	1	3	0	7	1	6	1	6	0	4	2	6	0	2	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr15:41108371C>T	ENST00000299174.5	-	2	403	c.336G>A	c.(334-336)ctG>ctA	p.L112L	PPP1R14D_ENST00000427255.2_Nonsense_Mutation_p.W151*	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	112					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATCCTACCTCCAGCTGAGTCT	0.542																																					p.W151X													.	.			0			c.G452A												79	76	77					15																	41108371		2203	4300	6503	SO:0001819	synonymous_variant	54866	exon3			TACCTCCAGCTGA	AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14953	protein-coding gene	gene with protein product	"gut and brain phosphatase inhibitor 1", "PKC-dependent PP1 inhibitory protein"	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.336G>A	15.37:g.41108371C>T			89	0	0		68	0.38	26	NM_001130143	0		0	Q4V773	Nonsense_Mutation	SNP	ENST00000299174.5	37	CCDS10066.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455304	0.63401	.	.	ENSG00000166143	ENST00000427255	.	.	.	4.93	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.071	0.09882	0.1852:0.6199:0.0:0.1949	.	.	.	.	X	151	.	ENSP00000398342:W151X	W	-	2	0	PPP1R14D	38895663	0.998000	0.40836	0.965000	0.40720	0.935000	0.57460	0.569000	0.23638	0.254000	0.21573	0.655000	0.94253	TGG			0.542	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252355.2		NM_017726		T	41108371	C	T	41108371	2	4	38	1	0	0	0	0	0	0	0	1	12382	595	21	3		3	PPP1R14D	15	41108371	Silent	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10		41108371	61423021	60	2705											
CCDC64B	146439	mdanderson.org	37	chr16	3080740	3080740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcctcagctctgctccaGccagtgcctgagcctggcac	5	8	11	17	1	2	1	1	1	1	0	4	1	4	1	5	1	5	3	5	1	0	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr16:3080740G>T	ENST00000572449.1	-	4	634	c.572C>A	c.(571-573)gCt>gAt	p.A191D	RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.A191D|CCDC64B_ENST00000573514.1_De_novo_Start_OutOfFrame			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	191										breast(1)|endometrium(2)|large_intestine(1)	4						CTCTGCTCCAGCCAGTGCCTG	0.632																																					p.A191D													.	.			0			c.C572A												26	29	28					16																	3080740		2008	4163	6171	SO:0001583	missense	146439	exon3			GCTCCAGCCAGTG	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.572C>A	16.37:g.3080740G>T	ENSP00000459043:p.Ala191Asp		42	0	0		42	0.07	3	NM_001103175	21	0	0	Q658L9	Missense_Mutation	SNP	ENST00000572449.1	37	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080248	0.36662	.	.	ENSG00000162069	ENST00000389347	T	0.31769	1.48	4.86	3.8	0.43715	.	0.706198	0.13985	N	0.349183	T	0.21801	0.0525	N	0.08118	0	0.31014	N	0.718869	D	0.53745	0.962	P	0.52481	0.7	T	0.02109	-1.1212	10	0.22706	T	0.39	-0.8159	7.8372	0.29376	0.1588:0.0:0.8412:0.0	.	191	A1A5D9	BICR2_HUMAN	D	191	ENSP00000373998:A191D	ENSP00000373998:A191D	A	-	2	0	CCDC64B	3020741	0.896000	0.30565	0.975000	0.42487	0.543000	0.35085	1.858000	0.39408	2.251000	0.74343	0.561000	0.74099	GCT			0.632	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436991.1				T	3080740	G	T	3080740	3	4	38	1	0	0	0	0	1	0	0	0	2838	971	34	2	982	2	CCDC64B	16	3080740	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		3080740	87274013	61	2706											
KDM6B	23135	mdanderson.org	37	chr17	7751802	7751802	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggagccctttgcatctctGcagtctcctttccccaccga	7	11	7	16	1	2	0	0	0	2	0	5	2	3	1	5	1	3	2	5	1	1	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr17:7751802G>T	ENST00000448097.2	+	11	2527	c.2196G>T	c.(2194-2196)ctG>ctT	p.L732L	KDM6B_ENST00000254846.5_Silent_p.L732L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	732	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						TTGCATCTCTGCAGTCTCCTT	0.622																																					p.L732L													KDM6B,NS,carcinoma,+2,1	KDM6B	2	1	0			c.G2196T												65	79	74					17																	7751802		2203	4300	6503	SO:0001819	synonymous_variant	23135	exon11			ATCTCTGCAGTCT	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.2196G>T	17.37:g.7751802G>T			46	0	0		29	0.1	3	NM_001080424	32	0	0	C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37																																																																																						0.622	KDM6B-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000440248.1		XM_043272		T	7751802	G	T	7751802	2	4	38	1	0	0	0	0	0	0	0	1	8153	1306	46	2		2	KDM6B	17	7751802	Silent	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		7751802	73443408	62	2707											
MRM1	79154	mdanderson.org	37	chr17	34958334	34958334	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatggggagcggcctggtgGggaggagctaagccgcttgc	6	6	20	9	2	0	0	0	0	0	0	0	3	0	3	2	7	4	3	2	7	1	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr17:34958334G>T	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_5'Flank|MRM1_ENST00000250156.7_Missense_Mutation_p.G32V	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CGGCCTGGTGGGGAGGAGCTA	0.677																																					p.G32V													.	.			0			c.G95T												61	62	62					17																	34958334		2202	4300	6502	SO:0001628	intergenic_variant	79922	exon1			CTGGTGGGGAGGA		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958334G>T			33	0	0		22	0.14	3	NM_024864	35	0	0	B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311303	0.81358	.	.	ENSG00000129282	ENST00000250156	T	0.55052	0.54	4.79	4.79	0.61399	.	0.154450	0.46145	D	0.000305	T	0.58864	0.2152	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.60682	0.878	T	0.60821	-0.7187	10	0.59425	D	0.04	-24.9592	15.0349	0.71738	0.0:0.0:1.0:0.0	.	32	Q6IN84	MRM1_HUMAN	V	32	ENSP00000250156:G32V	ENSP00000250156:G32V	G	+	2	0	MRM1	32032447	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	3.171000	0.50824	2.654000	0.90174	0.555000	0.69702	GGG			0.677	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256681.2		NM_024308		T	34958334	G	T	34958334	1	4	38	0	1	0	0	0	0	0	0	0	9787	1232	43	3		3	MRM1	17	34958334	IGR	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	27206532	34958334	46236876	63	2708											
HEXIM2	124790	mdanderson.org	37	chr17	43246847	43246847	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagtgaggccggggacAgtgatgggcggggccgagcg	7	3	24	7	4	0	3	0	2	0	1	0	6	0	4	2	7	1	0	2	7	0	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr17:43246847A>T	ENST00000307275.3	+	4	968	c.532A>T	c.(532-534)Agt>Tgt	p.S178C	HEXIM2_ENST00000591576.1_Missense_Mutation_p.S178C|RP13-890H12.2_ENST00000589451.1_RNA|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.S178C	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	178					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						GGCCGGGGACAGTGATGGGCG	0.632																																					p.S178C													.	.			0			c.A532T												29	27	28					17																	43246847		2203	4300	6503	SO:0001583	missense	124790	exon4			GGGGACAGTGATG	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.532A>T	17.37:g.43246847A>T	ENSP00000302276:p.Ser178Cys		80	0	0		41	0.07	3	NM_144608	56	0	0	D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334971	0.60853	.	.	ENSG00000168517	ENST00000307275	.	.	.	5.01	2.59	0.31030	.	0.260146	0.47455	D	0.000221	T	0.46983	0.1421	M	0.73962	2.25	0.27963	N	0.936684	D	0.54964	0.969	P	0.50378	0.639	T	0.44205	-0.9343	9	0.59425	D	0.04	-11.8116	5.6832	0.17788	0.7338:0.1685:0.0977:0.0	.	178	Q96MH2	HEXI2_HUMAN	C	178	.	ENSP00000302276:S178C	S	+	1	0	HEXIM2	40602630	0.403000	0.25319	0.968000	0.41197	0.758000	0.43043	0.584000	0.23864	1.022000	0.39626	0.459000	0.35465	AGT			0.632	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450181.1		NM_144608		T	43246847	A	T	43246847	3	4	38	1	0	0	0	0	1	0	0	0	7092	188	7	5	538	5	HEXIM2	17	43246847	Missense_Mutation	SNP	A	TCGA-2G-AAGT-01A-11D-A42Y-10	8288513	43246847	37948363	64	2709											
AP3D1	8943	mdanderson.org	37	chr19	2102188	2102188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctcaacacttggccagcGtcgccttcatctcttctaac	7	12	6	16	2	4	0	2	0	3	0	7	0	4	0	2	1	3	1	2	1	2	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:2102188G>T	ENST00000345016.5	-	30	3677	c.3446C>A	c.(3445-3447)aCg>aAg	p.T1149K	AP3D1_ENST00000350812.6_Missense_Mutation_p.T980K|AP3D1_ENST00000355272.6_Missense_Mutation_p.T1211K|AP3D1_ENST00000356926.4_Missense_Mutation_p.T1108K	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1149					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)		CTTGGCCAGCGTCGCCTTCAT	0.592																																					p.T1211K													.	.			0			c.C3632A												121	129	126					19																	2102188		2049	4196	6245	SO:0001583	missense	8943	exon32			GCCAGCGTCGCCT	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.3446C>A	19.37:g.2102188G>T	ENSP00000344055:p.Thr1149Lys		64	0	0		44	0.07	3	NM_001261826	431	0	0	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360289	0.41801	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.19250	2.16;2.66;2.67;2.17	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.998;0.997	T	0.18999	-1.0319	10	0.26408	T	0.33	-26.5955	14.1817	0.65578	0.0:0.0:1.0:0.0	.	980;1211;1149;1108	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	K	1108;1149;1211;1017;980	ENSP00000349398:T1108K;ENSP00000344055:T1149K;ENSP00000347416:T1211K;ENSP00000342321:T980K	ENSP00000341579:T1017K	T	-	2	0	AP3D1	2053188	1.000000	0.71417	0.291000	0.24904	0.218000	0.24690	6.674000	0.74487	2.016000	0.59253	0.561000	0.74099	ACG			0.592	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000450912.1				T	2102188	G	T	2102188	3	4	38	1	0	0	0	0	1	0	0	0	746	1145	40	1	19	1	AP3D1	19	2102188	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		2102188	57026795	65	2710											
DOHH	83475	mdanderson.org	37	chr19	3491805	3491805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagggcgctcccacagtgCagacctgcaggggagaggga	11	3	17	10	1	0	3	0	0	0	3	1	5	1	4	2	4	2	3	2	4	1	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:3491805C>T	ENST00000427575.1	-	5	1045	c.594G>A	c.(592-594)ctG>ctA	p.L198L	DOHH_ENST00000250937.3_Silent_p.L198L	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCACAGTGCAGACCTGCAG	0.682																																					p.L198L													.	.			0			c.G594A												4	3	3					19																	3491805		1908	3818	5726	SO:0001819	synonymous_variant	83475	exon5			ACAGTGCAGACCT	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"HEAT-like (PBS lyase) repeat containing 1"	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.594G>A	19.37:g.3491805C>T			45	0	0		25	0.12	3	NM_001145165	44	0	0		Silent	SNP	ENST00000427575.1	37	CCDS12108.1																																																																																					0.682	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452932.1		NM_031304		T	3491805	C	T	3491805	2	4	38	1	0	0	0	0	0	0	0	1	4700	697	25	2		2	DOHH	19	3491805	Silent	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	1389617	3491805	55637178	66	2711											
TBXA2R	6915	mdanderson.org	37	chr19	3600390	3600390	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggacaccacgatggtaccGgtcaccagcagccccaggaa	11	4	12	14	2	1	0	1	0	0	0	1	3	1	2	5	4	3	2	5	4	2	1	rs5745	byFrequency	TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:3600390G>T	ENST00000375190.4	-	2	636	c.243C>A	c.(241-243)acC>acA	p.T81T	TBXA2R_ENST00000411851.3_Silent_p.T81T|TBXA2R_ENST00000589966.1_Silent_p.T81T|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	81					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)	CGATGGTACCGGTCACCAGCA	0.677																																					p.T81T													.	.			0			c.C243A												36	51	46					19																	3600390		2164	4242	6406	SO:0001819	synonymous_variant	6915	exon2			GGTACCGGTCACC		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.243C>A	19.37:g.3600390G>T			57	0	0		48	0.06	3	NM_001060	2	0	0	O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	CCDS42467.1																																																																																					0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453081.2				T	3600390	G	T	3600390	2	4	38	1	0	0	0	0	0	0	0	1	15686	1103	39	1		1	TBXA2R	19	3600390	Silent	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	108585	3600390	55528593	67	2712											
CD97	976	mdanderson.org	37	chr19	14512474	14512474	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccctcagagctgacccTgatgatccaggagcgggggg	7	7	14	13	1	2	4	1	3	1	1	4	5	3	5	4	4	2	1	4	4	0	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:14512474T>C	ENST00000242786.5	+	11	1165	c.1085T>C	c.(1084-1086)cTg>cCg	p.L362P	CD97_ENST00000357355.3_Missense_Mutation_p.L313P|CD97_ENST00000358600.3_Missense_Mutation_p.L269P|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	362					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGCTGACCCTGATGATCCAG	0.637																																					p.L362P													.	.			0			c.T1085C												57	47	50					19																	14512474		2203	4300	6503	SO:0001583	missense	976	exon11			TGACCCTGATGAT		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1085T>C	19.37:g.14512474T>C	ENSP00000242786:p.Leu362Pro		71	0	0		44	0.07	3	NM_078481	30	0	0	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341782	0.61073	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.76709	-1.04;-0.87;-0.48	5.29	5.29	0.74685	.	.	.	.	.	D	0.87680	0.6238	M	0.81341	2.54	0.30137	N	0.804241	D;D;P	0.89917	1.0;1.0;0.609	D;D;B	0.87578	0.998;0.998;0.17	D	0.85377	0.1117	9	0.87932	D	0	.	11.6139	0.51078	0.0:0.0:0.0:1.0	.	269;313;362	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	P	362;313;269;312	ENSP00000242786:L362P;ENSP00000349918:L313P;ENSP00000351413:L269P	ENSP00000242786:L362P	L	+	2	0	CD97	14373474	0.306000	0.24490	0.185000	0.23176	0.179000	0.23085	3.477000	0.53151	1.998000	0.58463	0.454000	0.30748	CTG			0.637	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459821.2		NM_078481		C	14512474	T	C	14512474	3	2	38	1	0	0	0	0	1	0	0	0	3051	1580	55	4	1127	4	CD97	19	14512474	Missense_Mutation	SNP	T	TCGA-2G-AAGT-01A-11D-A42Y-10	10912084	14512474	44616509	68	2713											
ZNF253	56242	broad.mit.edu	37	chr19	20003204	20003204	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaaccattccacaacccTtttttcacatgagaaaattc	13	15	2	11	0	1	1	1	1	0	1	3	2	2	1	3	0	2	0	3	0	4	7			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:20003204T>C	ENST00000589717.1	+	4	1240	c.1148T>C	c.(1147-1149)cTt>cCt	p.L383P	CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.L307P|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	383				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	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)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCACAACCCTTTTTTCACAT	0.398																																					p.L383P													.	ZNF253	99		0			c.T1148C												40	45	43					19																	20003204		2131	4263	6394	SO:0001583	missense	56242	exon4			CAACCCTTTTTTC	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"Zinc fingers, C2H2-type", "-"	13497	protein-coding gene	gene with protein product		606954	"zinc finger protein 411"	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.1148T>C	19.37:g.20003204T>C	ENSP00000468720:p.Leu383Pro		124	0.0080645161	1		78	0.04	3	NM_021047	20	0	0	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	t	11.74	1.729158	0.30684	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71039	0.3293	M	0.93898	3.47	0.22866	N	0.998631	D	0.89917	1.0	D	0.91635	0.999	T	0.57406	-0.7817	7	.	.	.	.	5.4325	0.16460	0.0:0.0:0.0:1.0	.	383	O75346	ZN253_HUMAN	P	383	.	.	L	+	2	0	ZNF253	19864204	0.044000	0.20184	0.553000	0.28255	0.554000	0.35429	1.850000	0.39328	0.156000	0.19299	0.155000	0.16302	CTT			0.398	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460802.1		NM_021047		C	20003204	T	C	20003204	3	2	38	1	0	0	0	0	1	0	0	0	17820	1609	56	4	1162	4	ZNF253	19	20003204	Missense_Mutation	SNP	T	TCGA-2G-AAGT-01A-11D-A42Y-10	5490730	20003204	39125779	69	2714											
CAPNS1	826	bcgsc.ca	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588815.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Silent_p.G47G|CAPNS1_ENST00000587718.1_Silent_p.G47G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	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.141C>T	19.37:g.36632054C>T			139	0.0143884892	2		104	0.08	8	NM_001749	3	0	0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				T	36632054	C	T	36632054	2	4	38	1	0	0	0	0	0	0	0	1	2635	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	16628850	36632054	22496929	70	2715											
FCGBP	8857	mdanderson.org	37	chr19	40433368	40433368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggtagagtggccaggatgGccggacctcaaactctacca	11	6	12	12	1	2	1	1	0	1	1	2	3	2	3	4	5	2	1	4	5	3	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:40433368G>A	ENST00000221347.6	-	2	908	c.901C>T	c.(901-903)Cca>Tca	p.P301S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	301	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.P301S(1)		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)			GGCCAGGATGGCCGGACCTCA	0.567																																					p.P301S													FCGBP,colon,carcinoma,0,1	FCGBP	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C901T												61	56	58					19																	40433368		2203	4300	6503	SO:0001583	missense	8857	exon2			AGGATGGCCGGAC	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.901C>T	19.37:g.40433368G>A	ENSP00000221347:p.Pro301Ser		32	0	0		31	0.1	3	NM_003890	3	0	0	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	4.517	0.095996	0.08681	.	.	ENSG00000090920	ENST00000221347	T	0.13901	2.55	4.36	4.36	0.52297	.	0.436920	0.18570	N	0.137369	T	0.04092	0.0114	N	0.02315	-0.6	0.09310	N	1	B	0.25772	0.134	B	0.17979	0.02	T	0.42032	-0.9475	10	0.09338	T	0.73	.	6.6416	0.22913	0.1871:0.0:0.8129:0.0	.	301	Q9Y6R7	FCGBP_HUMAN	S	301	ENSP00000221347:P301S	ENSP00000221347:P301S	P	-	1	0	FCGBP	45125208	0.055000	0.20627	0.045000	0.18777	0.286000	0.27126	2.391000	0.44424	2.715000	0.92844	0.655000	0.94253	CCA			0.567	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462507.1		NM_003890		A	40433368	G	A	40433368	3	1	38	1	0	0	0	0	1	0	0	0	5791	1203	42	2	15456	2	FCGBP	19	40433368	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	3801314	40433368	18695615	71	2716											
HSD17B14	51171	mdanderson.org	37	chr19	49337583	49337583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggataaagacagctccagGgagctcctgctccagggccc	10	5	13	13	0	0	1	0	0	0	1	3	4	3	3	4	3	3	3	4	3	2	1	rs11547571		TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:49337583G>A	ENST00000263278.4	-	3	426	c.160C>T	c.(160-162)Cct>Tct	p.P54S	HSD17B14_ENST00000599157.1_Missense_Mutation_p.P54S	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	54					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-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;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		ACAGCTCCAGGGAGCTCCTGC	0.592																																					p.P54S													.	.			0			c.C160T												89	85	86					19																	49337583		2203	4300	6503	SO:0001583	missense	51171	exon3			CTCCAGGGAGCTC	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.160C>T	19.37:g.49337583G>A	ENSP00000263278:p.Pro54Ser		41	0	0		36	0.08	3	NM_016246	233	0	0	Q9UKU3	Missense_Mutation	SNP	ENST00000263278.4	37	CCDS12736.1	.	.	.	.	.	.	.	.	.	.	g	0.090	-1.168754	0.01660	.	.	ENSG00000087076	ENST00000263278	D	0.87029	-2.2	3.81	1.58	0.23477	NAD(P)-binding domain (1);	0.398881	0.23551	N	0.046969	T	0.66645	0.2810	N	0.04090	-0.28	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.53669	-0.8406	10	0.27785	T	0.31	.	4.1343	0.10164	0.127:0.0:0.6433:0.2297	.	54	Q9BPX1	DHB14_HUMAN	S	54	ENSP00000263278:P54S	ENSP00000263278:P54S	P	-	1	0	HSD17B14	54029395	0.007000	0.16637	0.031000	0.17742	0.225000	0.24961	0.614000	0.24314	0.389000	0.25086	0.437000	0.28790	CCT			0.592	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466212.1		NM_016246		A	49337583	G	A	49337583	3	1	38	1	0	0	0	0	1	0	0	0	7398	1232	43	3	680	3	HSD17B14	19	49337583	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	8904215	49337583	9791400	72	2717											
SIGLEC10	89790	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	51919248	51919248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagccttcaccccgggcaGctccagccccaggggtctag	6	5	11	19	1	2	0	1	0	1	0	3	0	3	0	7	3	3	2	7	3	1	2			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:51919248G>A	ENST00000339313.5	-	5	1044	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.L310L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.L252L|SIGLEC10_ENST00000436984.2_Silent_p.L262L|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Silent_p.L227L|SIGLEC10_ENST00000439889.2_Silent_p.L252L|SIGLEC10_ENST00000353836.5_Silent_p.L310L|SIGLEC10_ENST00000525998.1_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	310	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACCCCGGGCAGCTCCAGCCCC	0.667																																					p.L310L													.	SIGLEC10	112		0			c.C928T												32	37	35					19																	51919248		2203	4300	6503	SO:0001819	synonymous_variant	89790	exon5			CGGGCAGCTCCAG	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.928C>T	19.37:g.51919248G>A			112	0	0		82	0.16	13	NM_001171157	6	0	0	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																					0.667	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000384620.2		NM_033130		A	51919248	G	A	51919248	2	1	38	1	0	0	0	0	0	0	0	1	14329	962	34	2		2	SIGLEC10	19	51919248	Silent	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	2581665	51919248	7209735	73	2718											
ZNF320	162967	mdanderson.org	37	chr19	53384632	53384632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactaaaggtcttgccacaCtcattacacttataaggttt	12	14	6	9	0	2	1	1	1	1	0	2	1	2	1	1	2	2	1	1	2	5	6			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:53384632C>A	ENST00000595635.1	-	8	1248	c.747G>T	c.(745-747)gaG>gaT	p.E249D	ZNF320_ENST00000391781.2_Missense_Mutation_p.E249D|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	249					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)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTTGCCACACTCATTACACT	0.398																																					p.E249D													.	.			0			c.G747T												136	123	127					19																	53384632		2203	4300	6503	SO:0001583	missense	162967	exon4			GCCACACTCATTA	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.747G>T	19.37:g.53384632C>A	ENSP00000473091:p.Glu249Asp		86	0.011627907	1		47	0.06	3	NM_207333	20	0	0	Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	7.548	0.662163	0.14645	.	.	ENSG00000182986	ENST00000391781	T	0.35973	1.28	1.74	-2.36	0.06663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21801	0.0525	N	0.21142	0.635	0.09310	N	1	B	0.18461	0.028	B	0.21917	0.037	T	0.28267	-1.0049	9	0.56958	D	0.05	.	6.394	0.21603	0.0:0.5635:0.0:0.4365	.	249	A2RRD8	ZN320_HUMAN	D	249	ENSP00000375660:E249D	ENSP00000375660:E249D	E	-	3	2	ZNF320	58076444	0.000000	0.05858	0.003000	0.11579	0.185000	0.23345	-6.315000	0.00071	-0.361000	0.08125	0.184000	0.17185	GAG			0.398	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463771.1		NM_207333		A	53384632	C	A	53384632	3	1	38	1	0	0	0	0	1	0	0	0	17862	564	20	3	786	3	ZNF320	19	53384632	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	1465384	53384632	5744351	74	2719											
ZNF772	400720	hgsc.bcm.edu;mdanderson.org	37	chr19	57984888	57984888	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaacttcccacatgcgatGcactcataaggccttgctcc	11	9	7	14	1	1	1	1	0	0	1	3	2	3	1	3	1	4	2	3	1	3	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr19:57984888G>T	ENST00000343280.4	-	5	1484	c.1224C>A	c.(1222-1224)tgC>tgA	p.C408*	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Nonsense_Mutation_p.C296*|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000356584.3_Nonsense_Mutation_p.C367*|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	408					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(4)|lung(3)	9		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)|Lung(386;0.174)		CACATGCGATGCACTCATAAG	0.413																																					p.C408X	Melanoma(5;289 436 14293 15924 30817)												.	.			0			c.C1224A												131	117	122					19																	57984888		2203	4300	6503	SO:0001587	stop_gained	400720	exon5			TGCGATGCACTCA	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1224C>A	19.37:g.57984888G>T	ENSP00000341165:p.Cys408*		88	0	0		65	0.23	15	NM_001024596	1	0	0	A6NJK9|B4DH56|B4DYS0	Nonsense_Mutation	SNP	ENST00000343280.4	37	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	G	36	5.926403	0.97110	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	.	.	.	3.72	0.187	0.15109	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3786	0.11283	0.2225:0.0:0.5946:0.1829	.	.	.	.	X	408;296;367;333	.	ENSP00000291809:C333X	C	-	3	2	ZNF772	62676700	0.000000	0.05858	1.000000	0.80357	0.935000	0.57460	-0.341000	0.07811	0.778000	0.33520	0.305000	0.20034	TGC			0.413	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397447.1		NM_001024596		T	57984888	G	T	57984888	4	4	38	1	0	0	0	0	0	1	0	0	18168	1311	46	2	249	2	ZNF772	19	57984888	Nonsense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	4600256	57984888	1144095	75	2720											
MACROD2	140733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	13982939	13982939	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttattttgcaagaacgtTtattgaagatgaccttagaa	13	16	7	5	1	0	5	0	2	0	3	0	5	0	5	1	0	2	2	1	0	7	8			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr20:13982939T>G	ENST00000310348.4	+	2	52	c.52T>G	c.(52-54)Tta>Gta	p.L18V	MACROD2_ENST00000217246.4_Missense_Mutation_p.L18V			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	18					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCAAGAACGTTTATTGAAGAT	0.343																																					p.L18V													.	.			0			c.T52G												77	76	76					20																	13982939		2203	4300	6503	SO:0001583	missense	140733	exon2			GAACGTTTATTGA	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.52T>G	20.37:g.13982939T>G	ENSP00000309809:p.Leu18Val		72	0	0		76	0.2	15	NM_080676	1	0	0	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799298	0.70567	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.42900	0.96;0.96	6.02	6.02	0.97574	.	0.000000	0.56097	D	0.000027	T	0.61476	0.2350	M	0.75777	2.31	0.80722	D	1	D;D	0.59357	0.985;0.957	D;D	0.68943	0.914;0.961	T	0.65825	-0.6074	10	0.87932	D	0	-5.0174	9.8057	0.40792	0.0:0.0765:0.0:0.9235	.	18;18	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	V	18	ENSP00000217246:L18V;ENSP00000309809:L18V	ENSP00000217246:L18V	L	+	1	2	MACROD2	13930939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.702000	0.47102	2.304000	0.77564	0.528000	0.53228	TTA			0.343	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_080676		G	13982939	T	G	13982939	3	3	38	1	0	0	0	0	1	0	0	0	9162	1838	64	4	58	4	MACROD2	20	13982939	Missense_Mutation	SNP	T	TCGA-2G-AAGT-01A-11D-A42Y-10		13982939	49042581	76	2721											
LAMA5	3911	ucsc.edu;bcgsc.ca	37	chr20	60892038	60892038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcgttggaggcctcgatgGccctctgggtgaggcggtcc	4	8	18	11	3	1	1	0	1	1	0	3	3	2	2	3	7	0	1	3	7	0	1			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr20:60892038G>A	ENST00000252999.3	-	56	7619	c.7553C>T	c.(7552-7554)gCc>gTc	p.A2518V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2518	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			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)			GGCCTCGATGGCCCTCTGGGT	0.687																																					p.A2518V													.	LAMA5	268		0			c.C7553T												59	53	55					20																	60892038		2185	4281	6466	SO:0001583	missense	3911	exon56			TCGATGGCCCTCT	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.7553C>T	20.37:g.60892038G>A	ENSP00000252999:p.Ala2518Val		46	0	0		28	0.14	4	NM_005560	130	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	23.4	4.415352	0.83449	.	.	ENSG00000130702	ENST00000252999	T	0.28895	1.59	4.26	4.26	0.50523	.	0.000000	0.64402	U	0.000005	T	0.53932	0.1827	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.59947	-0.7358	10	0.66056	D	0.02	.	16.3263	0.82983	0.0:0.0:1.0:0.0	.	2518	O15230	LAMA5_HUMAN	V	2518	ENSP00000252999:A2518V	ENSP00000252999:A2518V	A	-	2	0	LAMA5	60325433	1.000000	0.71417	0.998000	0.56505	0.397000	0.30659	8.230000	0.89793	1.929000	0.55896	0.282000	0.19409	GCC			0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		A	60892038	G	A	60892038	3	1	38	1	0	0	0	0	1	0	0	0	8624	1203	42	2	3634	2	LAMA5	20	60892038	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	46909099	60892038	2133482	77	2722											
ZNF512B	57473	mdanderson.org	37	chr20	62594010	62594010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgggccagctcgtcctccGctatctcctgcaggtggaac	5	8	12	16	4	1	0	0	0	1	0	5	1	3	1	4	3	3	3	4	3	2	1	rs528739637		TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr20:62594010G>A	ENST00000450537.1	-	13	2153	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	ZNF512B_ENST00000217130.3_Missense_Mutation_p.A698V|ZNF512B_ENST00000369888.1_Missense_Mutation_p.A698V			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	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)			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)					CTCGTCCTCCGCTATCTCCTG	0.706																																					p.A698V													.	.			0			c.C2093T												16	15	15					20																	62594010		2184	4282	6466	SO:0001583	missense	57473	exon13			TCCTCCGCTATCT	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.2093C>T	20.37:g.62594010G>A	ENSP00000393795:p.Ala698Val		49	0	0		38	0.08	3	NM_020713	49	0	0	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199980	0.79015	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.32753	1.44;1.44;1.44	5.22	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	L	0.52126	1.63	0.53005	D	0.999962	P	0.50369	0.934	B	0.42555	0.391	T	0.23762	-1.0179	10	0.87932	D	0	-13.4545	15.6776	0.77341	0.0:0.1375:0.8625:0.0	.	698	Q96KM6	Z512B_HUMAN	V	698	ENSP00000358904:A698V;ENSP00000393795:A698V;ENSP00000217130:A698V	ENSP00000217130:A698V	A	-	2	0	ZNF512B	62064454	1.000000	0.71417	0.478000	0.27316	0.579000	0.36224	7.535000	0.82014	1.156000	0.42514	0.563000	0.77884	GCG			0.706	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080246.1		NM_020713		A	62594010	G	A	62594010	3	1	38	1	0	0	0	0	1	0	0	0	17980	1087	38	1	605	1	ZNF512B	20	62594010	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	1701972	62594010	431510	78	2723											
VPREB3	29802	mdanderson.org	37	chr22	24095309	24095309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgacgtgctgggggctGagcgtgcaggagagttgagc	7	8	20	6	2	0	4	0	3	0	1	0	5	0	4	0	4	4	4	0	4	0	1			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr22:24095309G>T	ENST00000248948.3	-	2	230	c.126C>A	c.(124-126)ctC>ctA	p.L42L	VPREB3_ENST00000398465.3_Silent_p.L26L|ZNF70_ENST00000341976.3_5'Flank	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	42	Ig-like.					endoplasmic reticulum (GO:0005783)				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				GCTGGGGGCTGAGCGTGCAGG	0.622																																					p.L42L													.	.			0			c.C126A												80	61	67					22																	24095309		2203	4300	6503	SO:0001819	synonymous_variant	29802	exon2			GGGGCTGAGCGTG		CCDS13813.1	22q11.23	2013-01-11	2008-09-12		ENSG00000128218	ENSG00000128218		"Immunoglobulin superfamily / V-set domain containing"	12710	protein-coding gene	gene with protein product		605017				10702669, 14670953	Standard	NM_013378		Approved	8HS20	uc002zxt.3	Q9UKI3	OTTHUMG00000150738	ENST00000248948.3:c.126C>A	22.37:g.24095309G>T			55	0	0		43	0.07	3	NM_013378	1	0	0	B2R587	Silent	SNP	ENST00000248948.3	37	CCDS13813.1																																																																																					0.622	VPREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319879.2		NM_013378		T	24095309	G	T	24095309	2	4	38	1	0	0	0	0	0	0	0	1	17211	1277	45	3		3	VPREB3	22	24095309	Silent	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		24095309	27209257	79	2724											
SLC5A4	6527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	32628901	32628901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgtgtacaggatgcGgctgatcatccccggcatca	8	10	10	13	2	2	1	2	1	0	0	3	2	3	2	3	3	3	3	3	3	2	2	rs555124904	byFrequency	TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr22:32628901G>A	ENST00000266086.4	-	9	1017	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	336					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACAGGATGCGGCTGATCATC	0.448													G|||	2	0.000399361	0	0.0014	5008	,	,		22644	0.001		0	False		,,,				2504	0				p.R336C													.	.			0			c.C1006T												112	91	98					22																	32628901		2203	4300	6503	SO:0001583	missense	6527	exon9			GGATGCGGCTGAT	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1006C>T	22.37:g.32628901G>A	ENSP00000266086:p.Arg336Cys		159	0	0		144	0.35	51	NM_014227	0		0	O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.151371	0.57151	.	.	ENSG00000100191	ENST00000266086	D	0.89196	-2.48	4.74	3.7	0.42460	.	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96309	0.9227	10	0.87932	D	0	.	12.2746	0.54728	0.0:0.0:0.8287:0.1712	.	336	Q9NY91	SC5A4_HUMAN	C	336	ENSP00000266086:R336C	ENSP00000266086:R336C	R	-	1	0	SLC5A4	30958901	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	3.973000	0.56845	1.343000	0.45638	-0.311000	0.09066	CGC			0.448	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315724.1		NM_014227		A	32628901	G	A	32628901	3	1	38	1	0	0	0	0	1	0	0	0	14690	1116	39	1	1001	1	SLC5A4	22	32628901	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	8533592	32628901	18675665	80	2725											
ADSL	158	mdanderson.org	37	chr22	40759064	40759064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttctgaaggattggtcGtgtaccccaaagtaagaagc	13	10	10	8	1	1	2	0	1	1	1	2	3	1	3	2	2	2	2	2	2	5	4	rs370851726		TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chr22:40759064G>A	ENST00000216194.7	+	10	1146	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	ADSL_ENST00000454266.2_Missense_Mutation_p.V378M|ADSL_ENST00000342312.6_Missense_Mutation_p.V364M	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	364			V -> M (in ADSL deficiency; severe). {ECO:0000269|PubMed:12368987}.		'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.V364M(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGGATTGGTCGTGTACCCCAA	0.458																																					p.V364M	Colon(4;65 130 1097 1516)												ADSL_ENST00000216194,NS,carcinoma,0,2	ADSL_ENST00000216194	0	2	2	Substitution - Missense(2)	endometrium(2)	c.G1090A							G	MET/VAL,MET/VAL	0,4406		0,0,2203	131	128	129		1090,1090	3.5	1	22		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADSL	NM_000026.2,NM_001123378.1	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	364/485,364/426	40759064	1,13005	2203	4300	6503	SO:0001583	missense	158	exon10			TTGGTCGTGTACC	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1090G>A	22.37:g.40759064G>A	ENSP00000216194:p.Val364Met		63	0	0		46	0.07	3	NM_001123378	493	0	0	B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053129	0.75960	0.0	1.16E-4	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.96427	-3.98;-3.98;-4.01	5.56	3.45	0.39498	L-Aspartase-like (1);	0.112130	0.64402	D	0.000011	D	0.98385	0.9463	H	0.97516	4.02	0.80722	D	1	D;P;D;D	0.67145	0.996;0.949;0.986;0.986	P;P;P;P	0.59221	0.772;0.854;0.804;0.804	D	0.98304	1.0520	10	0.87932	D	0	-8.1846	11.6583	0.51330	0.0677:0.124:0.8083:0.0	.	378;364;364;364	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	M	364;378;184;364	ENSP00000216194:V364M;ENSP00000390107:V378M;ENSP00000341429:V364M	ENSP00000216194:V364M	V	+	1	0	ADSL	39089010	1.000000	0.71417	0.996000	0.52242	0.802000	0.45316	5.535000	0.67173	0.704000	0.31869	0.462000	0.41574	GTG			0.458	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321386.1		NM_000026		A	40759064	G	A	40759064	3	1	38	1	0	0	0	0	1	0	0	0	346	1145	40	1	1128	1	ADSL	22	40759064	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	8130163	40759064	10545502	81	2726											
SFRS17A	8227	mdanderson.org	37	chrX	1719834	1719834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgtgtcgtccggctgtGtgagcgccaccacgctgcac	6	7	13	15	5	0	2	0	1	0	1	2	2	1	2	4	1	2	3	4	1	0	0			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chrX:1719834G>T	ENST00000313871.3	+	5	1631	c.1435G>T	c.(1435-1437)Gtg>Ttg	p.V479L		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	479					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GTCCGGCTGTGTGAGCGCCAC	0.726																																					p.V479L													.	.			0			c.G1435T												16	15	16					X																	1719834		2165	4191	6356	SO:0001583	missense	8227	exon5			GGCTGTGTGAGCG	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1435G>T	X.37:g.1719834G>T	ENSP00000324827:p.Val479Leu		39	0	0		19	0.11	2	NM_005088	86	0	0	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	12.42	1.933858	0.34096	.	.	ENSG00000197976	ENST00000313871	T	0.46819	0.86	1.41	1.41	0.22369	.	0.629715	0.11839	U	0.524430	T	0.32675	0.0837	.	.	.	0.09310	N	0.999999	B	0.27882	0.192	B	0.34180	0.177	T	0.30387	-0.9980	9	0.25106	T	0.35	.	5.5248	0.16953	0.2388:0.0:0.7612:0.0	.	479	Q02040	AK17A_HUMAN	L	479	ENSP00000324827:V479L	ENSP00000324827:V479L	V	+	1	0	AKAP17A	1679834	0.026000	0.19158	0.003000	0.11579	0.004000	0.04260	0.500000	0.22562	0.367000	0.24454	0.367000	0.22151	GTG			0.726	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055609.2		NM_005088		T	1719834	G	T	1719834	3	4	38	1	0	0	0	0	1	0	0	0	14196	1377	48	3	1449	3	SFRS17A	23	1719834	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10		1719834	153550726	82	2727											
TAB3	257397	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	30870899	30870899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaacagatcacttaccgtaGggatcgcagtggtgcagctg	10	9	12	10	2	1	1	1	0	0	1	2	2	1	2	1	2	4	4	1	2	3	3			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chrX:30870899G>A	ENST00000378933.1	-	4	1883	c.1706C>T	c.(1705-1707)cCt>cTt	p.P569L	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.P569L|TAB3_ENST00000288422.2_Missense_Mutation_p.P569L|TAB3_ENST00000378932.2_Missense_Mutation_p.P569L|TAB3_ENST00000378928.1_Missense_Mutation_p.P20L	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	569					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						ACTTACCGTAGGGATCGCAGT	0.478																																					p.P569L	Pancreas(164;1598 1985 29022 43301 49529)												.	.			0			c.C1706T												148	106	120					X																	30870899		2202	4300	6502	SO:0001583	missense	257397	exon7			ACCGTAGGGATCG	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.1706C>T	X.37:g.30870899G>A	ENSP00000368215:p.Pro569Leu		40	0	0		60	0.15	9	NM_152787	15	0.07	1	A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796360	0.90453	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932;ENST00000378928	D;D;D;D	0.83506	-1.7;-1.7;-1.7;-1.73	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.90701	0.4620	10	0.87932	D	0	-2.8232	19.0103	0.92870	0.0:0.0:1.0:0.0	.	569;569	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	L	569;569;569;569;20	ENSP00000368215:P569L;ENSP00000368212:P569L;ENSP00000288422:P569L;ENSP00000368214:P569L	ENSP00000288422:P569L	P	-	2	0	TAB3	30780820	1.000000	0.71417	0.593000	0.28771	0.818000	0.46254	9.450000	0.97607	2.438000	0.82558	0.506000	0.49869	CCT			0.478	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056173.1		NM_152787		A	30870899	G	A	30870899	3	1	38	1	0	0	0	0	1	0	0	0	15520	1000	35	3	452	3	TAB3	23	30870899	Missense_Mutation	SNP	G	TCGA-2G-AAGT-01A-11D-A42Y-10	29151065	30870899	124399661	83	2728											
OPHN1	4983	mdanderson.org	37	chrX	67333029	67333029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acataaatacttactggcagCagagaccagctctttgtgaa	14	10	8	9	0	1	2	0	1	1	1	1	3	1	2	1	1	4	3	1	1	5	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chrX:67333029C>T	ENST00000355520.5	-	17	2055	c.1414G>A	c.(1414-1416)Gct>Act	p.A472T	OPHN1_ENST00000484842.1_5'Flank|OPHN1_ENST00000540071.1_Missense_Mutation_p.A472T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	472	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTACTGGCAGCAGAGACCAGC	0.383																																					p.A472T													.	.			0			c.G1414A												74	65	68					X																	67333029		2203	4300	6503	SO:0001583	missense	4983	exon17			TGGCAGCAGAGAC	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1414G>A	X.37:g.67333029C>T	ENSP00000347710:p.Ala472Thr		26	0	0		32	0.09	3	NM_002547	2	0	0	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641368	0.87859	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.25250	1.81;1.81	4.32	4.32	0.51571	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.91635	0.993;0.999	T	0.54977	-0.8212	10	0.72032	D	0.01	.	13.2242	0.59905	0.0:1.0:0.0:0.0	.	472;472	F5H2E3;O60890	.;OPHN1_HUMAN	T	472	ENSP00000347710:A472T;ENSP00000438617:A472T	ENSP00000347710:A472T	A	-	1	0	OPHN1	67249754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.641000	0.74324	1.975000	0.57531	0.594000	0.82650	GCT			0.383	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057011.1		NM_002547		T	67333029	C	T	67333029	3	4	38	1	0	0	0	0	1	0	0	0	10892	710	25	2	1026	2	OPHN1	23	67333029	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10	36462130	67333029	87937531	84	2729											
KIAA2022	340533	broad.mit.edu	37	chrX	73962573	73962573	+	Frame_Shift_Del	DEL	A	A	-																															ttcaaagctttgcttttgggAaaaaggtgtcttgatggagt																										TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chrX:73962573delA	ENST00000055682.6	-	3	2430	c.1819delT	c.(1819-1821)tccfs	p.S607fs		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	607					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						TGCTTTTGGGAAAAAGGTGTC	0.458																																					p.S607fs													.	KIAA2022	262		0			c.1819delT												100	81	87					X																	73962573		2203	4300	6503	SO:0001589	frameshift_variant	340533	exon3			TTTGGGAAAAAGG		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.1819delT	X.37:g.73962573delA	ENSP00000055682:p.Ser607fs		87	0	0		128	0.05	7	NM_001008537	0		0	A7YY87|Q5JUX9|Q8IVE9	Frame_Shift_Del	DEL	ENST00000055682.6	37	CCDS35337.1																																																																																					0.458	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057270.2		NM_001008537		-	73962573	A	-	73962573	7	5	38	1	0	1	0	1	0	0	0	0	8284	246	9	0	2739	0	KIAA2022	23	73962573	Frame_Shift_Del	DEL	A	TCGA-2G-AAGT-01A-11D-A42Y-10	6629544	73962573	81307987	85	2730											
ZFY	7544	mdanderson.org	37	chrY	2829598	2829598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtattggtagcagactgtgCccctgaagcagtcatagatg	11	10	12	8	0	1	3	1	1	0	2	1	3	1	3	2	1	3	4	2	1	4	4			TCGA-2G-AAGT-01A-11D-A42Y-10	TCGA-2G-AAGT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	980913b0-79a2-4582-993d-61a244cf931f	f4d496a2-1051-4956-a38a-5992eea441c2	g.chrY:2829598C>T	ENST00000155093.3	+	3	866	c.545C>T	c.(544-546)gCc>gTc	p.A182V	ZFY_ENST00000383052.1_Missense_Mutation_p.A182V|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000449237.1_Missense_Mutation_p.A156V	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GCAGACTGTGCCCCTGAAGCA	0.453																																					p.A182V													.	.			0			c.C545T																																									SO:0001583	missense	7544	exon3			ACTGTGCCCCTGA	L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"Zinc fingers, C2H2-type"	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.545C>T	Y.37:g.2829598C>T	ENSP00000155093:p.Ala182Val		37	0	0		35	0.09	3	NM_003411	9	0	0	B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	CCDS14774.1																																																																																					0.453	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088063.1		NM_003411		T	2829598	C	T	2829598	3	4	38	1	0	0	0	0	1	0	0	0	17685	739	26	2	551	2	ZFY	24	2829598	Missense_Mutation	SNP	C	TCGA-2G-AAGT-01A-11D-A42Y-10		2829598	56543968	86	2731											
PGD	5226	mdanderson.org	37	chr1	10459762	10459762	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaatgaccacggctttgtgGtaagcggcgtgggcgcgttg	6	10	17	8	5	0	2	0	2	0	0	0	2	0	2	1	4	1	3	1	4	2	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:10459762G>T	ENST00000270776.8	+	2	122		c.e2+1		PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000538557.1_Splice_Site	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase						carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CGGCTTTGTGGTAAGCGGCGT	0.567																																					.													.	.			0			c.84+1G>T												95	89	91					1																	10459762		2203	4300	6503	SO:0001630	splice_region_variant	5226	exon2			TTTGTGGTAAGCG	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.84+1G>T	1.37:g.10459762G>T			17	0	0		37	0.08	3	NM_002631	0		0	A8K2Y9|B4DQJ8|Q9BWD8	Splice_Site	SNP	ENST00000270776.8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574989	0.86542	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	.	.	.	5.08	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1568	0.72749	0.0:0.0:0.8576:0.1424	.	.	.	.	.	-1	.	.	.	+	.	.	PGD	10382349	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.782000	0.85680	1.248000	0.43934	0.555000	0.69702	.			0.567	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005398.1		NM_002631	Intron	T	10459762	G	T	10459762	5	4	39	1	0	0	0	0	0	0	1	0	11804	1275	44	3	91	3	PGD	1	10459762	Splice_Site	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		10459762	238790859	1	2732											
HTR1D	3352	mdanderson.org	37	chr1	23520067	23520067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtagatccggccatataGgatgatgagcaacaccgagg	12	6	13	10	3	0	3	0	2	0	1	1	5	1	4	4	4	2	2	4	4	4	3	rs148842291		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:23520067G>T	ENST00000374619.1	-	1	1155	c.646C>A	c.(646-648)Cta>Ata	p.L216I	HTR1D_ENST00000314113.3_Missense_Mutation_p.L216I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	216					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CGGCCATATAGGATGATGAGC	0.577																																					p.L216I													.	.			0			c.C646A												60	65	63					1																	23520067		2203	4300	6503	SO:0001583	missense	3352	exon1			CATATAGGATGAT	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.646C>A	1.37:g.23520067G>T	ENSP00000363748:p.Leu216Ile		64	0	0		47	0.06	3	NM_000864	0		0		Missense_Mutation	SNP	ENST00000374619.1	37	CCDS231.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756956	0.49362	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.39787	1.06;1.06	5.57	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.55940	0.1952	L	0.56396	1.775	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.56613	-0.7950	10	0.59425	D	0.04	.	8.3625	0.32367	0.2402:0.0:0.7598:0.0	.	216	P28221	5HT1D_HUMAN	I	216	ENSP00000313661:L216I;ENSP00000363748:L216I	ENSP00000313661:L216I	L	-	1	2	HTR1D	23392654	1.000000	0.71417	0.995000	0.50966	0.414000	0.31173	3.547000	0.53663	1.374000	0.46228	-0.140000	0.14226	CTA			0.577	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008924.1		NM_000864		T	23520067	G	T	23520067	3	4	39	1	0	0	0	0	1	0	0	0	7453	991	35	3	491	3	HTR1D	1	23520067	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	13060305	23520067	225730554	2	2733											
NCDN	23154	mdanderson.org	37	chr1	36026280	36026280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacctcattgctggtggCaccgtgtctgccctatgcca	5	10	11	15	2	2	0	1	0	1	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:36026280C>T	ENST00000373243.2	+	3	911	c.528C>T	c.(526-528)ggC>ggT	p.G176G	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Silent_p.G176G|NCDN_ENST00000373253.3_Silent_p.G159G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	176					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCTGGTGGCACCGTGTCTG	0.647																																					p.G176G													.	.			0			c.C528T												58	55	56					1																	36026280		2203	4300	6503	SO:0001819	synonymous_variant	23154	exon3			TGGTGGCACCGTG	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.528C>T	1.37:g.36026280C>T			45	0	0		45	0.07	3	NM_014284	37	0	0	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	CCDS392.1																																																																																					0.647	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131298.1		NM_014284		T	36026280	C	T	36026280	2	4	39	1	0	0	0	0	0	0	0	1	10231	697	25	2		2	NCDN	1	36026280	Silent	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	12506213	36026280	213224341	3	2734											
CMPK1	51727	mdanderson.org	37	chr1	47840594	47840594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttagatttgtattgaacGatgtcttgagaggggaaaga	12	15	12	2	1	1	4	0	2	1	3	1	7	1	5	0	2	1	1	0	2	4	7	rs149887048		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:47840594G>A	ENST00000371873.5	+	4	634	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	CMPK1_ENST00000450808.2_Missense_Mutation_p.R113Q	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic											endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						TGTATTGAACGATGTCTTGAG	0.348																																					p.R162Q													.	.			0			c.G485A							G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	75	73	74		338,485	5.5	1	1	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CMPK1	NM_001136140.1,NM_016308.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	113/180,162/229	47840594	1,13005	2203	4300	6503	SO:0001583	missense	51727	exon4			TTGAACGATGTCT	AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"UMP-CMP kinase", "Cytidine monophosphate kinase"	191710	"cytidylate kinase"	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.485G>A	1.37:g.47840594G>A	ENSP00000360939:p.Arg162Gln		60	0	0		54	0.06	3	NM_016308	219	0	0		Missense_Mutation	SNP	ENST00000371873.5	37	CCDS549.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994248	0.93167	0.0	1.16E-4	ENSG00000162368	ENST00000371873;ENST00000450808	D;D	0.86769	-2.17;-2.17	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96935	0.8999	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	0.98196	1.0465	10	0.87932	D	0	-6.926	19.6745	0.95926	0.0:0.0:1.0:0.0	.	113;162	E9PGI8;B2R6S5	.;.	Q	162;113	ENSP00000360939:R162Q;ENSP00000398192:R113Q	ENSP00000360939:R162Q	R	+	2	0	CMPK1	47613181	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.284000	0.95882	2.880000	0.98712	0.650000	0.86243	CGA	0		0.348	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021646.2		NM_016308		A	47840594	G	A	47840594	3	1	39	1	0	0	0	0	1	0	0	0	3582	1058	37	1	499	1	CMPK1	1	47840594	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	11814314	47840594	201410027	4	2735											
ABCD3	5825	mdanderson.org	37	chr1	94980702	94980702	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcattttctttgtattagGttggcatcactctcttcact	8	19	5	9	0	5	0	3	0	2	0	6	0	5	0	0	2	0	3	0	2	3	7			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:94980702G>T	ENST00000370214.4	+	22	1870	c.1846G>T	c.(1846-1848)Gtt>Ttt	p.V616F	ABCD3_ENST00000454898.2_Splice_Site_p.V640F|ABCD3_ENST00000394233.2_Splice_Site_p.V506F|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Splice_Site_p.V543F	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	616	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.			VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470). {ECO:0000305}.	ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|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)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTGTATTAGGTTGGCATCAC	0.333																																					p.V616F													.	.			0			c.G1846T												154	146	148					1																	94980702		2203	4299	6502	SO:0001630	splice_region_variant	5825	exon22			TATTAGGTTGGCA	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1846-1G>T	1.37:g.94980702G>T			49	0	0		40	0.08	3	NM_002858	46	0	0	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733902	0.89482	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99843	-7.11;-7.11;-7.11;-7.11	5.98	5.98	0.97165	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	L	0.59912	1.85	0.80722	D	1	P;D;P	0.89917	0.93;1.0;0.877	P;D;B	0.85130	0.454;0.997;0.378	D	0.97599	1.0122	10	0.72032	D	0.01	-18.6691	20.0532	0.97636	0.0:0.0:1.0:0.0	.	640;506;616	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	F	506;640;543;616	ENSP00000377780:V506F;ENSP00000403357:V640F;ENSP00000440692:V543F;ENSP00000359233:V616F	ENSP00000359233:V616F	V	+	1	0	ABCD3	94753290	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	9.864000	0.99589	2.835000	0.97688	0.650000	0.86243	GTT			0.333	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000029597.1		NM_002858	Missense_Mutation	T	94980702	G	T	94980702	5	4	39	1	0	0	0	0	0	0	1	0	62	1275	44	3	1963	3	ABCD3	1	94980702	Splice_Site	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	47140108	94980702	154269919	5	2736											
ETV3	2117	broad.mit.edu	37	chr1	157095428	157095428	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagggattggagagacAgcgaagggactgtgggggtc	9	5	20	7	2	0	1	0	0	0	1	1	6	0	4	1	6	1	0	1	6	1	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:157095428A>G	ENST00000368192.4	-	5	808	c.744T>C	c.(742-744)gcT>gcC	p.A248A		NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	248					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TTGGAGAGACAGCGAAGGGAC	0.572																																					p.A248A													.	ETV3	50		0			c.T744C												122	117	118					1																	157095428		692	1591	2283	SO:0001819	synonymous_variant	2117	exon5			AGAGACAGCGAAG	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.744T>C	1.37:g.157095428A>G			139	0	0		148	0.03	4	NM_001145312	16	0	0	B4E3M7|Q8TAC8|Q9BX30	Silent	SNP	ENST00000368192.4	37	CCDS44250.1																																																																																					0.572	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082843.2		NM_005240		G	157095428	A	G	157095428	2	3	39	1	0	0	0	0	0	0	0	1	5286	175	7	4		4	ETV3	1	157095428	Silent	SNP	A	TCGA-2G-AAGV-01A-11D-A42Y-10	62114726	157095428	92155193	6	2737											
SPTA1	6708	broad.mit.edu	37	chr1	158607904	158607904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttttcgtggtgtgcaGctgccaattcttggacattc	7	16	9	9	1	2	0	1	0	1	0	4	1	2	1	1	2	3	2	1	2	2	5			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:158607904G>T	ENST00000368147.4	-	36	5288	c.5108C>A	c.(5107-5109)gCt>gAt	p.A1703D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1703					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)					GTGGTGTGCAGCTGCCAATTC	0.443																																					p.A1703D													.	SPTA1	720		0			c.C5108A												126	118	121					1																	158607904		1910	4118	6028	SO:0001583	missense	6708	exon36			TGTGCAGCTGCCA	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.5108C>A	1.37:g.158607904G>T	ENSP00000357129:p.Ala1703Asp		92	0	0		111	0.05	5	NM_003126	0		0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903355	0.52333	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53423	0.62;0.62	5.36	3.44	0.39384	.	0.000000	0.32120	N	0.006556	T	0.24699	0.0599	L	0.58583	1.82	0.09310	N	0.999999	B	0.32040	0.353	B	0.31547	0.132	T	0.14337	-1.0476	10	0.22109	T	0.4	.	14.8858	0.70567	0.0:0.4098:0.5902:0.0	.	1703	P02549	SPTA1_HUMAN	D	1703	ENSP00000357130:A1703D;ENSP00000357129:A1703D	ENSP00000357129:A1703D	A	-	2	0	SPTA1	156874528	0.970000	0.33590	0.469000	0.27204	0.685000	0.39939	4.980000	0.63812	0.788000	0.33755	0.591000	0.81541	GCT			0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051851.3		NM_003126		T	158607904	G	T	158607904	3	4	39	1	0	0	0	0	1	0	0	0	15139	971	34	2	2219	2	SPTA1	1	158607904	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	1512476	158607904	90642717	7	2738											
HEATR5B	54497	broad.mit.edu;mdanderson.org	37	chr2	37234397	37234397	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggggcccaggaattccGatagtgaagtctagctgtat	11	11	12	7	1	1	1	0	1	1	0	2	3	2	2	2	3	1	2	2	3	6	5			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr2:37234397G>T	ENST00000233099.5	-	29	4668	c.4573C>A	c.(4573-4575)Cgg>Agg	p.R1525R	HEATR5B_ENST00000354531.2_Silent_p.R1525R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1525						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)				CAGGAATTCCGATAGTGAAGT	0.378																																					p.R1525R													.	HEATR5B	185		0			c.C4573A												85	85	85					2																	37234397		2203	4300	6503	SO:0001819	synonymous_variant	54497	exon29			AATTCCGATAGTG	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.4573C>A	2.37:g.37234397G>T			113	0	0		110	0.05	5	NM_019024	47	0	0	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																					0.378	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325492.1		NM_019024		T	37234397	G	T	37234397	2	4	39	1	0	0	0	0	0	0	0	1	7047	1057	37	1		1	HEATR5B	2	37234397	Silent	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		37234397	205964976	8	2739											
WBP1	23559	broad.mit.edu	37	chr2	74687702	74687702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggaggtgagggttagtgCcaccctgccagatctggagg	9	7	16	9	0	1	2	0	1	1	1	1	4	1	4	3	5	2	1	3	5	2	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr2:74687702C>T	ENST00000233615.2	+	4	978	c.704C>T	c.(703-705)gCc>gTc	p.A235V	WBP1_ENST00000393972.3_Missense_Mutation_p.A269V|WBP1_ENST00000409737.1_Missense_Mutation_p.A232V|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	235							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						AGGGTTAGTGCCACCCTGCCA	0.597																																					p.A235V													.	WBP1	35		0			c.C704T												53	51	52					2																	74687702		2203	4300	6503	SO:0001583	missense	23559	exon4			TTAGTGCCACCCT	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.704C>T	2.37:g.74687702C>T	ENSP00000233615:p.Ala235Val		99	0	0		137	0.03	4	NM_012477	327	0	0	B2RE02|O95637	Missense_Mutation	SNP	ENST00000233615.2	37	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773307	0.31411	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737	.	.	.	4.54	-1.8	0.07907	.	.	.	.	.	T	0.30854	0.0778	L	0.57536	1.79	0.09310	N	0.999999	P;P	0.35192	0.489;0.489	B;B	0.35770	0.21;0.21	T	0.27400	-1.0075	8	0.13108	T	0.6	0.0	4.5182	0.11947	0.0:0.3507:0.2936:0.3557	.	232;235	B8ZZ95;Q96G27	.;WBP1_HUMAN	V	235;269;232	.	ENSP00000233615:A235V	A	+	2	0	WBP1	74541210	0.005000	0.15991	0.004000	0.12327	0.304000	0.27724	0.297000	0.19101	-0.506000	0.06558	-0.175000	0.13238	GCC			0.597	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252221.2		NM_012477		T	74687702	C	T	74687702	3	4	39	1	0	0	0	0	1	0	0	0	17281	739	26	2	718	2	WBP1	2	74687702	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	37453305	74687702	168511671	9	2740											
SMPD4	55627	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	130910391	130910391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcccaggttctgtgaGgtggtagcgacagaagctgc	8	7	16	10	1	1	2	0	1	1	1	1	3	1	2	2	4	4	3	2	4	2	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr2:130910391G>A	ENST00000409031.1	-	20	3486	c.2338C>T	c.(2338-2340)Ctc>Ttc	p.L780F	SMPD4_ENST00000453750.1_Missense_Mutation_p.L529F|SMPD4_ENST00000443958.2_Missense_Mutation_p.L444F|SMPD4_ENST00000452225.2_Missense_Mutation_p.L521F|SMPD4_ENST00000351288.6_Missense_Mutation_p.L751F|SMPD4_ENST00000431183.2_Missense_Mutation_p.L678F|SMPD4_ENST00000426662.2_Missense_Mutation_p.L416F|SMPD4_ENST00000339679.7_Missense_Mutation_p.L638F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	741					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGTTCTGTGAGGTGGTAGCGA	0.667																																					p.L780F													.	.			0			c.C2338T												14	17	16					2																	130910391		2195	4279	6474	SO:0001583	missense	55627	exon20			CTGTGAGGTGGTA	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2338C>T	2.37:g.130910391G>A	ENSP00000386531:p.Leu780Phe		58	0	0		73	0.34	25	NM_017951	102	0.28	29	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	18.00	3.526022	0.64860	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	M	0.64997	1.995	0.52099	D	0.999943	D;P;P;P;D;B;D;D;D;D	0.89917	0.965;0.812;0.947;0.947;1.0;0.347;0.991;1.0;0.999;0.965	P;P;P;P;D;B;P;D;D;P	0.91635	0.819;0.45;0.579;0.579;0.998;0.085;0.823;0.999;0.994;0.689	T	0.75269	-0.3377	9	0.41790	T	0.15	.	13.7784	0.63069	0.0:0.0:1.0:0.0	.	416;521;678;638;529;712;741;780;787;312	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	F	751;780;678;529;444;638;521;416;290	.	ENSP00000339721:L638F	L	-	1	0	SMPD4	130626861	1.000000	0.71417	0.996000	0.52242	0.782000	0.44232	3.997000	0.57016	1.797000	0.52628	0.455000	0.32223	CTC			0.667	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254516.3		NM_017751		A	130910391	G	A	130910391	3	1	39	1	0	0	0	0	1	0	0	0	14830	1000	35	3	266	3	SMPD4	2	130910391	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	56222689	130910391	112288982	10	2741											
FN1	2335	broad.mit.edu	37	chr2	216288081	216288081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttcatcttaccagccatgGggcagaacccaaacttctgg	10	9	9	13	0	3	1	1	0	2	1	3	1	3	1	3	3	4	2	3	3	3	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr2:216288081G>T	ENST00000359671.1	-	9	1650	c.1385C>A	c.(1384-1386)cCc>cAc	p.P462H	FN1_ENST00000426059.1_Missense_Mutation_p.P462H|FN1_ENST00000357009.2_Missense_Mutation_p.P462H|FN1_ENST00000357867.4_Missense_Mutation_p.P462H|FN1_ENST00000443816.1_Missense_Mutation_p.P462H|FN1_ENST00000354785.4_Missense_Mutation_p.P462H|FN1_ENST00000421182.1_Missense_Mutation_p.P462H|FN1_ENST00000323926.6_Missense_Mutation_p.P462H|FN1_ENST00000432072.2_Missense_Mutation_p.P462H|FN1_ENST00000345488.5_Missense_Mutation_p.P462H|FN1_ENST00000356005.4_Missense_Mutation_p.P462H|FN1_ENST00000336916.4_Missense_Mutation_p.P462H|FN1_ENST00000446046.1_Missense_Mutation_p.P462H|FN1_ENST00000346544.3_Missense_Mutation_p.P462H			P02751	FINC_HUMAN	fibronectin 1	462	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				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)	ACCAGCCATGGGGCAGAACCC	0.458																																					p.P462H													.	FN1	521		0			c.C1385A												105	95	98					2																	216288081		2203	4300	6503	SO:0001583	missense	2335	exon9			GCCATGGGGCAGA		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.1385C>A	2.37:g.216288081G>T	ENSP00000352696:p.Pro462His		141	0.0070921986	1		163	0.04	6	NM_212476	638	0	0	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		.	.	.	.	.	.	.	.	.	.	G	29.9	5.042551	0.93685	.	.	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	0.53640	0.61;1.97;2.15;0.68;2.19;1.84;2.21;1.84;2.13;1.89;1.37;0.69;1.28;1.36	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000004	T	0.78142	0.4237	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;P;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.997;0.899;0.999;0.998;1.0;0.997;0.999;0.999;0.941	T	0.82392	-0.0480	10	0.87932	D	0	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	462;462;462;462;462;462;462;462;462;462;462	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	H	462	ENSP00000394423:P462H;ENSP00000323534:P462H;ENSP00000338200:P462H;ENSP00000350534:P462H;ENSP00000346839:P462H;ENSP00000352696:P462H;ENSP00000265312:P462H;ENSP00000273049:P462H;ENSP00000349509:P462H;ENSP00000410422:P462H;ENSP00000415018:P462H;ENSP00000399538:P462H;ENSP00000348285:P462H;ENSP00000398907:P462H	ENSP00000265313:P462H	P	-	2	0	FN1	215996326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.777000	0.99008	2.802000	0.96397	0.655000	0.94253	CCC			0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding				NM_212476		T	216288081	G	T	216288081	3	4	39	1	0	0	0	0	1	0	0	0	5975	1232	43	3	6233	3	FN1	2	216288081	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	85377690	216288081	26911292	11	2742											
VGLL4	10533	mdanderson.org	37	chr3	11600098	11600098	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggcgggctggccccTgcgagaggcggactcagggc	4	4	21	12	3	1	1	1	0	0	1	1	3	1	2	2	8	1	2	2	8	0	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr3:11600098T>C	ENST00000354449.3	+	0	4959				VGLL4_ENST00000424529.2_Missense_Mutation_p.R185G|VGLL4_ENST00000404339.1_Missense_Mutation_p.R274G|VGLL4_ENST00000413604.1_Missense_Mutation_p.R210G|VGLL4_ENST00000451674.2_Missense_Mutation_p.R189G|VGLL4_ENST00000273038.3_Missense_Mutation_p.R269G|VGLL4_ENST00000430365.2_Missense_Mutation_p.R275G	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGCTGGCCCCTGCGAGAGGCG	0.642																																					p.R275G													.	.			0			c.A823G												49	57	54					3																	11600098		2203	4300	6503	SO:0001628	intergenic_variant	9686	exon5			GGCCCCTGCGAGA	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600098T>C			16	0	0		18	0.11	2	NM_001128219	89	0	0	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747497	0.69533	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.46451	0.88;0.88;0.87	5.01	-3.31	0.04988	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	L	0.47716	1.5	0.40484	D	0.980472	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.993	T	0.55692	-0.8101	10	0.62326	D	0.03	-31.4953	18.11	0.89532	0.0:0.0:0.6945:0.3055	.	275;189;185;274;269	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	G	269;210;189;185;275;274	ENSP00000273038:R269G;ENSP00000404251:R275G;ENSP00000384705:R274G	ENSP00000273038:R269G	R	-	1	2	VGLL4	11575098	0.945000	0.32115	0.818000	0.32626	0.899000	0.52679	-0.231000	0.09069	-0.873000	0.04032	0.460000	0.39030	AGG			0.642	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251951.3		NM_006395		C	11600098	T	C	11600098	1	2	39	0	1	0	0	0	0	0	0	0	17185	1579	55	4		4	VGLL4	3	11600098	IGR	SNP	T	TCGA-2G-AAGV-01A-11D-A42Y-10		11600098	186422332	12	2743											
SCAP	22937	mdanderson.org	37	chr3	47462212	47462212	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggctgtcccactggcttGgctgagggcaggcaggcctc	4	9	16	12	0	0	1	0	1	0	0	2	1	1	1	2	6	0	6	2	6	0	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr3:47462212G>T	ENST00000265565.5	-	12	1807	c.1395C>A	c.(1393-1395)gcC>gcA	p.A465A	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.A210A|SCAP_ENST00000545718.1_Silent_p.A73A	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	465					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)		CCACTGGCTTGGCTGAGGGCA	0.647											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A465A	Pancreas(149;978 1908 29304 37806 46700)												.	.			0			c.C1395A												49	50	50					3																	47462212		2203	4299	6502	SO:0001819	synonymous_variant	22937	exon12			TGGCTTGGCTGAG	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.1395C>A	3.37:g.47462212G>T			29	0.0344827586	1	947	41	0.07	3	NM_012235	107	0	0	Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	CCDS2755.2																																																																																					0.647	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246872.2		NM_012235		T	47462212	G	T	47462212	2	4	39	1	0	0	0	0	0	0	0	1	13900	1335	47	3		3	SCAP	3	47462212	Silent	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	35862114	47462212	150560218	13	2744											
SPON2	10417	mdanderson.org	37	chr4	1164277	1164277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctctgtcgcagccgcaCcagtgtcaccctggcgatgg	5	7	15	14	3	2	0	1	0	1	0	3	1	2	0	3	4	1	3	3	4	0	0	rs2279279	byFrequency	TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr4:1164277C>T	ENST00000290902.5	-	5	1056	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SPON2_ENST00000431380.1_Missense_Mutation_p.V242M|RP11-20I20.4_ENST00000609548.1_RNA	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	242			V -> L (in dbSNP:rs2279279). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		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)		CGCAGCCGCACCAGTGTCACC	0.637																																					p.V242M													.	.			0			c.G724A												99	97	98					4																	1164277		2203	4300	6503	SO:0001583	missense	10417	exon7			GCCGCACCAGTGT	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.724G>A	4.37:g.1164277C>T	ENSP00000290902:p.Val242Met		64	0	0		61	0.03	2	NM_001199021	31	0	0	D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015175	0.35511	.	.	ENSG00000159674	ENST00000290902;ENST00000431380	T;T	0.09630	2.96;2.96	4.74	3.83	0.44106	.	0.211682	0.42682	D	0.000679	T	0.10078	0.0247	M	0.65975	2.015	0.27797	P	0.9426045	P	0.35745	0.518	B	0.26614	0.071	T	0.07673	-1.0760	9	0.41790	T	0.15	.	7.1626	0.25672	0.1712:0.741:0.0:0.0879	.	242	Q9BUD6	SPON2_HUMAN	M	242	ENSP00000290902:V242M;ENSP00000394832:V242M	ENSP00000290902:V242M	V	-	1	0	SPON2	1154277	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	2.473000	0.45145	2.180000	0.69256	0.609000	0.83330	GTG			0.637	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000202080.2				T	1164277	C	T	1164277	3	4	39	1	0	0	0	0	1	0	0	0	15106	507	18	3	279	3	SPON2	4	1164277	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10		1164277	189989999	14	2745											
CSN2	1447	broad.mit.edu	37	chr4	70823294	70823294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggatttgagggtcaaaaaAgggtatcgttggagatttaa	13	12	14	2	1	1	2	1	1	0	1	2	4	1	3	0	4	0	2	0	4	5	5			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr4:70823294A>G	ENST00000353151.3	-	5	384	c.373T>C	c.(373-375)Ttt>Ctt	p.F125L		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GGGTCAAAAAAGGGTATCGTT	0.483																																					p.F125L													.	CSN2	30		0			c.T373C												106	110	109					4																	70823294		2203	4300	6503	SO:0001583	missense	1447	exon5			CAAAAAAGGGTAT	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.373T>C	4.37:g.70823294A>G	ENSP00000341030:p.Phe125Leu		153	0	0		111	0.04	4	NM_001891	0		0	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387336	0.25031	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.16	-6.45	0.01914	.	0.955111	0.08655	N	0.913374	T	0.14960	0.0361	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24693	-1.0153	9	0.19590	T	0.45	0.0147	1.6244	0.02720	0.1768:0.4088:0.1454:0.2689	.	125	P05814	CASB_HUMAN	L	125	.	ENSP00000341030:F125L	F	-	1	0	CSN2	70857883	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.630000	0.02028	-1.213000	0.02617	-0.299000	0.09455	TTT			0.483	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251565.1				G	70823294	A	G	70823294	3	3	39	1	0	0	0	0	1	0	0	0	3950	72	3	4	315	4	CSN2	4	70823294	Missense_Mutation	SNP	A	TCGA-2G-AAGV-01A-11D-A42Y-10	69659017	70823294	120330982	15	2746											
HPSE	10855	mdanderson.org	37	chr4	84234379	84234379	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcttaataacgcatttagGccaaagatcaagtccagtcc	13	11	7	10	1	2	1	1	0	1	1	4	1	4	1	3	1	1	2	3	1	5	5			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr4:84234379G>T	ENST00000405413.2	-	5	697	c.561C>A	c.(559-561)ggC>ggA	p.G187G	HPSE_ENST00000512196.1_Silent_p.G187G|HPSE_ENST00000513463.1_Intron|HPSE_ENST00000311412.5_Silent_p.G187G	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	187					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	ACGCATTTAGGCCAAAGATCA	0.413																																					p.G187G													.	.			0			c.C561A												111	100	104					4																	84234379		2203	4300	6503	SO:0001819	synonymous_variant	10855	exon4			ATTTAGGCCAAAG	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.561C>A	4.37:g.84234379G>T			151	0	0		92	0.05	5	NM_001098540	1	0	0	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Silent	SNP	ENST00000405413.2	37	CCDS3602.1																																																																																					0.413	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252812.2		NM_006665		T	84234379	G	T	84234379	2	4	39	1	0	0	0	0	0	0	0	1	7359	1190	42	2		2	HPSE	4	84234379	Silent	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	13411085	84234379	106919897	16	2747											
DSPP	1834	bcgsc.ca	37	chr4	88536686	88536686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatagtagtgacagcagcAatagcagtgacagcagcaac	16	6	11	8	0	0	2	0	2	0	0	0	2	0	2	0	0	6	7	0	0	6	4			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr4:88536686A>G	ENST00000282478.7	+	4	2905	c.2872A>G	c.(2872-2874)Aat>Gat	p.N958D	DSPP_ENST00000399271.1_Missense_Mutation_p.N958D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	958	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcaatagcagtga	0.488																																					p.N958D													.	DSPP	174		0			c.A2872G												78	91	87					4																	88536686		1639	2966	4605	SO:0001583	missense	1834	exon5			AGCAGCAATAGCA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2872A>G	4.37:g.88536686A>G	ENSP00000282478:p.Asn958Asp		112	0.0089285714	1		63	0.1	6	NM_014208	0		0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	a	3.286	-0.145966	0.06627	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87029	-2.2;-2.2	1.8	-0.0442	0.13856	.	.	.	.	.	T	0.69477	0.3115	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54227	-0.8325	9	0.05525	T	0.97	.	6.5492	0.22423	0.1988:0.0:0.8012:0.0	.	958	Q9NZW4	DSPP_HUMAN	D	958	ENSP00000382213:N958D;ENSP00000282478:N958D	ENSP00000282478:N958D	N	+	1	0	DSPP	88755710	0.000000	0.05858	0.074000	0.20217	0.003000	0.03518	0.010000	0.13242	-0.059000	0.13154	-1.046000	0.02355	AAT			0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		G	88536686	A	G	88536686	3	3	39	1	0	0	0	0	1	0	0	0	4787	130	5	4	2886	4	DSPP	4	88536686	Missense_Mutation	SNP	A	TCGA-2G-AAGV-01A-11D-A42Y-10	4302307	88536686	102617590	17	2748											
SGTB	54557	mdanderson.org	37	chr5	64966159	64966159	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttcaggattttgttgctGtatctgctgagcaaactgct	9	15	10	7	0	2	1	1	1	1	0	2	2	2	2	0	1	5	7	0	1	3	5			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr5:64966159G>A	ENST00000381007.4	-	11	1064	c.829C>T	c.(829-831)Cag>Tag	p.Q277*		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	277	Gln-rich.									large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTTTGTTGCTGTATCTGCTGA	0.448																																					p.Q277X													.	.			0			c.C829T												172	166	168					5																	64966159		2203	4300	6503	SO:0001587	stop_gained	54557	exon11			GTTGCTGTATCTG	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.829C>T	5.37:g.64966159G>A	ENSP00000370395:p.Gln277*		65	0	0		41	0.07	3	NM_019072	4	0	0		Nonsense_Mutation	SNP	ENST00000381007.4	37	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234996	0.97399	.	.	ENSG00000197860	ENST00000381007	.	.	.	5.65	4.78	0.61160	.	0.308779	0.36482	N	0.002576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.9048	14.832	0.70156	0.0684:0.0:0.9316:0.0	.	.	.	.	X	277	.	ENSP00000370395:Q277X	Q	-	1	0	SGTB	65001915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	1.630000	0.50440	0.655000	0.94253	CAG			0.448	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215057.2		NM_019072		A	64966159	G	A	64966159	4	1	39	1	0	0	0	0	0	1	0	0	14249	1386	48	3	89	3	SGTB	5	64966159	Nonsense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		64966159	115949101	18	2749											
GCNT4	51301	mdanderson.org	37	chr5	74324717	74324717	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcgaaggtgagatccagtAcaactgggatagaaaaagcc	15	7	11	8	1	0	2	0	1	0	2	2	5	1	3	2	2	3	1	2	2	6	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr5:74324717A>G	ENST00000322348.4	-	1	2007	c.1146T>C	c.(1144-1146)tgT>tgC	p.C382C		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	382					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GAGATCCAGTACAACTGGGAT	0.428																																					p.C382C													.	.			0			c.T1146C												77	74	75					5																	74324717		2203	4300	6503	SO:0001819	synonymous_variant	51301	exon1			TCCAGTACAACTG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.1146T>C	5.37:g.74324717A>G			57	0	0		47	0.06	3	NM_016591	2	0	0		Silent	SNP	ENST00000322348.4	37	CCDS4026.1																																																																																					0.428	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254040.1		NM_016591		G	74324717	A	G	74324717	2	3	39	1	0	0	0	0	0	0	0	1	6317	389	14	4		4	GCNT4	5	74324717	Silent	SNP	A	TCGA-2G-AAGV-01A-11D-A42Y-10	9358558	74324717	106590543	19	2750											
HLA-G	3135	ucsc.edu	37	chr6	29797394	29797394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgggcagctgtggtggtGccttctggagaggagcagag	8	8	19	6	0	1	2	0	0	1	2	1	4	1	3	1	5	3	3	1	5	1	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr6:29797394G>A	ENST00000360323.6	+	4	843	c.819G>A	c.(817-819)gtG>gtA	p.V273V	HLA-G_ENST00000428701.1_Silent_p.V273V|HLA-G_ENST00000376828.2_Silent_p.V278V|HLA-G_ENST00000376818.3_Silent_p.V181V|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	273	Alpha-3.|Ig-like C1-type.				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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTGTGGTGGTGCCTTCTGGAG	0.627																																					p.V273V													.	HLA-G	90		0			c.G819A												63	58	60					6																	29797394		2203	4296	6499	SO:0001819	synonymous_variant	3135	exon5			GGTGGTGCCTTCT		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.819G>A	6.37:g.29797394G>A			111	0	0		106	0.01	1	NM_002127	181	0.36	66		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																					0.627	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076286.2		NM_002127		A	29797394	G	A	29797394	2	1	39	1	0	0	0	0	0	0	0	1	7227	1306	46	2		2	HLA-G	6	29797394	Silent	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		29797394	141317673	20	2751											
SUPT3H	8464	broad.mit.edu	37	chr6	45073703	45073703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatcttctaccaaaactgCtgtttcatgaagaggccttc	11	12	6	12	0	3	2	1	1	2	1	4	2	3	2	2	1	3	2	2	1	4	4			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr6:45073703C>T	ENST00000371459.1	-	3	307	c.142G>A	c.(142-144)Gca>Aca	p.A48T	SUPT3H_ENST00000306867.5_Missense_Mutation_p.A48T|SUPT3H_ENST00000371460.1_Missense_Mutation_p.A59T|SUPT3H_ENST00000371461.2_Missense_Mutation_p.A59T	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	130					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ACCAAAACTGCTGTTTCATGA	0.323																																					p.A59T													.	SUPT3H	75		0			c.G175A												125	121	122					6																	45073703		2203	4300	6503	SO:0001583	missense	8464	exon5			AAACTGCTGTTTC	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.142G>A	6.37:g.45073703C>T	ENSP00000360514:p.Ala48Thr		94	0	0		101	0.04	4	NM_181356	12	0	0	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980194	0.74474	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.40225	1.04;1.06;1.06;1.04	5.31	4.44	0.53790	Histone-fold (2);	0.057508	0.64402	N	0.000001	T	0.18299	0.0439	N	0.22421	0.69	0.35685	D	0.81437	P;P	0.51791	0.948;0.905	P;B	0.47827	0.558;0.378	T	0.02774	-1.1112	10	0.15952	T	0.53	.	11.8982	0.52667	0.0:0.9185:0.0:0.0815	.	59;130	O75486-3;O75486	.;SUPT3_HUMAN	T	59;48;48;59	ENSP00000360515:A59T;ENSP00000360514:A48T;ENSP00000306718:A48T;ENSP00000360516:A59T	ENSP00000306718:A48T	A	-	1	0	SUPT3H	45181681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.431000	0.52814	1.364000	0.46038	0.655000	0.94253	GCA			0.323	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106911.2		NM_181356		T	45073703	C	T	45073703	3	4	39	1	0	0	0	0	1	0	0	0	15420	797	28	2	847	2	SUPT3H	6	45073703	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	15276309	45073703	126041364	21	2752											
SYNJ2	8871	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	158517208	158517208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggctttctaagagctcaGaccctttggactcaggaacc	9	11	9	12	0	3	2	2	0	1	2	3	4	3	4	2	3	2	2	2	3	2	4			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr6:158517208G>A	ENST00000355585.4	+	27	4378	c.4303G>A	c.(4303-4305)Gac>Aac	p.D1435N	SYNJ2_ENST00000367122.2_Missense_Mutation_p.D1390N|SYNJ2_ENST00000367112.1_Missense_Mutation_p.D520N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1435					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)		TAAGAGCTCAGACCCTTTGGA	0.532																																					p.D1435N													.	SYNJ2	111		0			c.G4303A												65	66	66					6																	158517208		2203	4300	6503	SO:0001583	missense	8871	exon27			AGCTCAGACCCTT	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	ENST00000355585.4:c.4303G>A	6.37:g.158517208G>A	ENSP00000347792:p.Asp1435Asn		159	0.0062893082	1		181	0.09	17	NM_003898	29	0.07	2	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171016	0.38315	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.93189	-3.17;-3.18;0.78	5.79	4.02	0.46733	.	0.578459	0.16858	N	0.196625	T	0.74496	0.3724	L	0.27053	0.805	0.21184	N	0.999762	B;B	0.12630	0.006;0.002	B;B	0.12156	0.007;0.002	T	0.61173	-0.7116	10	0.16896	T	0.51	.	6.5883	0.22632	0.2559:0.0:0.7441:0.0	.	830;1435	B4DLC4;O15056	.;SYNJ2_HUMAN	N	1390;1435;520	ENSP00000356089:D1390N;ENSP00000347792:D1435N;ENSP00000356079:D520N	ENSP00000347792:D1435N	D	+	1	0	SYNJ2	158437196	0.034000	0.19679	0.057000	0.19452	0.760000	0.43138	1.357000	0.34090	0.398000	0.25338	0.528000	0.53228	GAC			0.532	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042858.2				A	158517208	G	A	158517208	3	1	39	1	0	0	0	0	1	0	0	0	15476	942	33	3	4409	3	SYNJ2	6	158517208	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	113443505	158517208	12597859	22	2753											
SDK1	221935	mdanderson.org	37	chr7	4188935	4188935	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctggtgccccaggcaGaagtgaccgcacgcagcctc	8	5	12	16	2	0	2	0	1	0	1	2	2	1	2	5	2	3	4	5	2	1	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr7:4188935G>T	ENST00000404826.2	+	30	4604	c.4465G>T	c.(4465-4467)Gaa>Taa	p.E1489*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.E1489*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1489	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E1489*(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)		GCCCCAGGCAGAAGTGACCGC	0.672																																					p.E1489X													SDK1,NS,carcinoma,0,1	SDK1	0	1	1	Substitution - Nonsense(1)	lung(1)	c.G4465T												24	27	26					7																	4188935		2203	4300	6503	SO:0001587	stop_gained	221935	exon30			CAGGCAGAAGTGA	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.4465G>T	7.37:g.4188935G>T	ENSP00000385899:p.Glu1489*		50	0	0		81	0.06	5	NM_152744	11	0	0	Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	45	11.643396	0.99586	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	5.06	4.17	0.49024	.	0.343507	0.26761	N	0.022621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	12.8714	0.57966	0.0789:0.0:0.9211:0.0	.	.	.	.	X	1489	.	ENSP00000374182:E1489X	E	+	1	0	SDK1	4155461	0.999000	0.42202	0.742000	0.31022	0.747000	0.42532	3.368000	0.52357	2.353000	0.79882	0.563000	0.77884	GAA			0.672	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323702.1		NM_152744		T	4188935	G	T	4188935	4	4	39	1	0	0	0	0	0	1	0	0	13991	943	33	3	4583	3	SDK1	7	4188935	Nonsense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		4188935	154949728	23	2754											
TARP	6966	broad.mit.edu	37	chr7	38304986	38304986	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagataatttcttgatcaaCtccgtttttattattctcat	12	19	3	7	1	3	2	2	1	2	1	5	2	4	2	1	0	1	1	1	0	5	8	rs17418300	byFrequency	TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr7:38304986C>T	ENST00000443402.2	-	0	293					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCTTGATCAACTCCGTTTTTA	0.363													c|||	5	0.000998403	0.003	0	5008	,	,		18100	0.001		0	False		,,,				2504	0				p.V37I													.	.			0			c.G109A												144	137	139					7																	38304986		1833	4104	5937			0	exon2			GATCAACTCCGTT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"T cell receptors / TRG locus"	12275	other	T cell receptor gene	"T-cell receptor, gamma, constant region C1"	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38304986C>T			100	0.02	2		136	0.04	5	NM_001003806	0		0		RNA	SNP	ENST00000443402.2	37																																																																																						0.363	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene		OTTHUMT00000338825.3		NG_001336		T	38304986	C	T	38304986	1	4	39	0	1	0	0	0	0	0	0	0	15581	565	20	3		3	TARP	7	38304986	RNA	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	34116051	38304986	120833677	24	2755											
TAF6	6878	mdanderson.org	37	chr7	99705016	99705016	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggggacgatgccgggggAggaactggagaaggatggga	11	3	22	5	3	0	1	0	0	0	1	0	9	0	6	1	8	2	0	1	8	2	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr7:99705016A>G	ENST00000344095.4	-	15	2412	c.1887T>C	c.(1885-1887)ccT>ccC	p.P629P	TAF6_ENST00000418432.2_Silent_p.P553P|TAF6_ENST00000472509.1_Silent_p.P686P|TAF6_ENST00000452041.1_Silent_p.P629P|TAF6_ENST00000453269.2_Silent_p.P629P|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000437822.2_Silent_p.P666P	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	629					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGCCGGGGGAGGAACTGGAG	0.647																																					p.P666P													.	.			0			c.T1998C												59	65	63					7																	99705016		2203	4300	6503	SO:0001819	synonymous_variant	6878	exon15			CGGGGGAGGAACT		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1887T>C	7.37:g.99705016A>G			42	0.0238095238	1		54	0.06	3	NM_001190415	269	0	1	A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	CCDS5686.1																																																																																					0.647	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337024.2		NM_005641		G	99705016	A	G	99705016	2	3	39	1	0	0	0	0	0	0	0	1	15553	291	11	4		4	TAF6	7	99705016	Silent	SNP	A	TCGA-2G-AAGV-01A-11D-A42Y-10	61400030	99705016	59433647	25	2756											
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	3216723	3216723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacggcggcccccacccagGcaggtaagcttggtggcacc	8	4	13	16	2	0	0	0	0	0	0	0	0	0	0	4	6	1	4	4	6	1	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr8:3216723G>A	ENST00000520002.1	-	22	3813	c.3258C>T	c.(3256-3258)tgC>tgT	p.C1086C	CSMD1_ENST00000400186.3_Silent_p.C1086C|CSMD1_ENST00000542608.1_Silent_p.C1085C|CSMD1_ENST00000539096.1_Silent_p.C1085C|CSMD1_ENST00000537824.1_Silent_p.C1085C|CSMD1_ENST00000602557.1_Silent_p.C1086C|CSMD1_ENST00000602723.1_Silent_p.C1086C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1086	Sushi 6. {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)		CCCCACCCAGGCAGGTAAGCT	0.552																																					p.C1085C													.	.			0			c.C3255T												68	73	71					8																	3216723		2203	4300	6503	SO:0001819	synonymous_variant	64478	exon21			ACCCAGGCAGGTA			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.3258C>T	8.37:g.3216723G>A			94	0	0		102	0.29	30	NM_033225	1	0	0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	g	10.55	1.382288	0.24944	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73780	-0.3875	4	.	.	.	.	19.067	0.93116	0.0:0.0:1.0:0.0	.	.	.	.	S	566	.	.	P	-	1	0	CSMD1	3204130	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.985000	0.49362	2.489000	0.83994	0.550000	0.68814	CCT			0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225		A	3216723	G	A	3216723	2	1	39	1	0	0	0	0	0	0	0	1	3946	1195	42	2		2	CSMD1	8	3216723	Silent	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		3216723	143147299	26	2757											
CPSF1	29894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145627045	145627045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccacactcacctgtgCtcctgtcattcttggtcaga	7	11	6	17	0	4	1	3	0	1	1	5	1	5	1	5	1	1	1	5	1	0	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr8:145627045C>T	ENST00000349769.3	-	3	261	c.167G>A	c.(166-168)aGc>aAc	p.S56N	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	56					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCACCTGTGCTCCTGTCATT	0.647																																					p.S56N	NSCLC(133;1088 1848 27708 34777 35269)												.	.			0			c.G167A												44	50	48					8																	145627045		2198	4300	6498	SO:0001583	missense	29894	exon3			CCTGTGCTCCTGT	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.167G>A	8.37:g.145627045C>T	ENSP00000339353:p.Ser56Asn		103	0	0		177	0.23	40	NM_013291	92	0.22	20	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	5.673	0.308744	0.10733	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.45276	0.9	4.04	0.863	0.19062	.	0.567082	0.19794	N	0.105906	T	0.23727	0.0574	L	0.44542	1.39	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11397	-1.0589	10	0.11794	T	0.64	-14.8787	0.5735	0.00699	0.2004:0.3658:0.195:0.2388	.	56;56	B4DEF4;Q10570	.;CPSF1_HUMAN	N	56	ENSP00000339353:S56N	ENSP00000339353:S56N	S	-	2	0	CPSF1	145597853	0.000000	0.05858	0.785000	0.31869	0.456000	0.32438	-0.042000	0.12063	0.354000	0.24105	0.561000	0.74099	AGC			0.647	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291		T	145627045	C	T	145627045	3	4	39	1	0	0	0	0	1	0	0	0	3826	797	28	2	4308	2	CPSF1	8	145627045	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	142410322	145627045	736977	27	2758											
PTPRD	5789	mdanderson.org	37	chr9	8376061	8376061	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcggtgaactggaattgTctcacttctctcttctcact	7	14	8	12	1	4	1	2	1	4	0	7	2	4	2	0	3	1	0	0	3	2	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr9:8376061T>C	ENST00000381196.4	-	36	5079	c.4536A>G	c.(4534-4536)agA>agG	p.R1512R	PTPRD_ENST00000355233.5_Silent_p.R1106R|PTPRD_ENST00000356435.5_Silent_p.R1512R|PTPRD_ENST00000397606.3_Silent_p.R1105R|PTPRD_ENST00000397611.3_Silent_p.R1102R|PTPRD_ENST00000537002.1_Silent_p.R1102R|PTPRD_ENST00000360074.4_Silent_p.R1499R|PTPRD_ENST00000486161.1_Silent_p.R1105R|PTPRD_ENST00000358503.5_Silent_p.R1490R|PTPRD_ENST00000397617.3_Silent_p.R1105R|PTPRD_ENST00000540109.1_Silent_p.R1512R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1512	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTGGAATTGTCTCACTTCTC	0.443										TSP Lung(15;0.13)																											p.R1512R													.	.			0			c.A4536G												110	98	102					9																	8376061		2203	4299	6502	SO:0001819	synonymous_variant	5789	exon39			GAATTGTCTCACT	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.4536A>G	9.37:g.8376061T>C			76	0	0		41	0.07	3	NM_002839	0		0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																					0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055395.3				C	8376061	T	C	8376061	2	2	39	1	0	0	0	0	0	0	0	1	12822	1664	58	4		4	PTPRD	9	8376061	Silent	SNP	T	TCGA-2G-AAGV-01A-11D-A42Y-10		8376061	132837370	28	2759											
SPTAN1	6709	mdanderson.org	37	chr9	131343287	131343287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagtgcatggacctgcaGctcttctaccgggacactga	9	8	12	12	1	2	1	0	1	2	0	2	4	2	3	2	2	5	4	2	2	1	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr9:131343287G>T	ENST00000372731.4	+	11	1520	c.1410G>T	c.(1408-1410)caG>caT	p.Q470H	SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q470H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q470H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	470					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						TGGACCTGCAGCTCTTCTACC	0.607																																					p.Q470H	NSCLC(120;833 1744 2558 35612 37579)												.	.			0			c.G1410T												93	84	87					9																	131343287		2203	4300	6503	SO:0001583	missense	6709	exon11			CCTGCAGCTCTTC	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.1410G>T	9.37:g.131343287G>T	ENSP00000361816:p.Gln470His		64	0	0		51	0.06	3	NM_003127	60	0	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488986	0.44249	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.42900	0.96;0.96;0.96	5.47	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	L	0.53729	1.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.996;1.0	D;D;D;D;D	0.97110	0.999;0.993;1.0;0.92;0.998	T	0.51849	-0.8653	10	0.32370	T	0.25	.	11.5199	0.50545	0.1475:0.0:0.8525:0.0	.	470;470;470;470;470	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	H	470	ENSP00000350882:Q470H;ENSP00000361816:Q470H;ENSP00000361824:Q470H	ENSP00000350882:Q470H	Q	+	3	2	SPTAN1	130383108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.416000	0.73332	1.316000	0.45131	0.455000	0.32223	CAG			0.607	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054472.1		NM_003127		T	131343287	G	T	131343287	3	4	39	1	0	0	0	0	1	0	0	0	15140	962	34	2	1448	2	SPTAN1	9	131343287	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	122967226	131343287	9870144	29	2760											
MPP7	143098	bcgsc.ca	37	chr10	28438946	28438946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgccgcaccatggagaatggGcaccggactctgcttctcat	8	8	11	14	3	2	1	1	0	2	1	3	3	2	2	3	3	1	3	3	3	1	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:28438946G>T	ENST00000375732.1	-	4	458	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	MPP7_ENST00000540098.1_Missense_Mutation_p.P67T|MPP7_ENST00000337532.5_Missense_Mutation_p.P67T|MPP7_ENST00000375719.3_Missense_Mutation_p.P67T|MPP7_ENST00000445954.2_5'UTR|MPP7_ENST00000481244.1_5'UTR			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	67	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGGAGAATGGGCACCGGACTC	0.498																																					p.P67T													.	MPP7	60		0			c.C199A												75	71	72					10																	28438946		2203	4300	6503	SO:0001583	missense	143098	exon6			GAATGGGCACCGG	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.199C>A	10.37:g.28438946G>T	ENSP00000364884:p.Pro67Thr		49	0	0		23	0.17	4	NM_173496	7	0	0	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247861	0.80024	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.54	5.54	0.83059	L27, C-terminal (1);L27 (2);	0.046687	0.85682	D	0.000000	T	0.39279	0.1072	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11155	-1.0599	10	0.87932	D	0	.	19.4932	0.95060	0.0:0.0:1.0:0.0	.	67	Q5T2T1	MPP7_HUMAN	T	67	ENSP00000364884:P67T;ENSP00000337907:P67T;ENSP00000438693:P67T;ENSP00000364871:P67T	ENSP00000337907:P67T	P	-	1	0	MPP7	28478952	1.000000	0.71417	0.932000	0.37286	0.982000	0.71751	6.660000	0.74417	2.609000	0.88269	0.484000	0.47621	CCC			0.498	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047345.1		NM_173496		T	28438946	G	T	28438946	3	4	39	1	0	0	0	0	1	0	0	0	9755	1203	42	2	1587	2	MPP7	10	28438946	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		28438946	107095801	30	2761											
EPC1	80314	mdanderson.org	37	chr10	32576132	32576132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgttggggagtagcagcgGcagacgatggtaagactttg	9	10	16	6	2	1	2	0	0	1	2	1	4	1	3	0	4	2	5	0	4	2	4			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:32576132G>A	ENST00000263062.8	-	7	1315	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	EPC1_ENST00000319778.6_Missense_Mutation_p.A349V|EPC1_ENST00000375110.2_Missense_Mutation_p.A299V	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	349					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|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 growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				AGTAGCAGCGGCAGACGATGG	0.453																																					p.A349V													.	.			0			c.C1046T												152	131	138					10																	32576132		2203	4300	6503	SO:0001583	missense	80314	exon7			GCAGCGGCAGACG	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1046C>T	10.37:g.32576132G>A	ENSP00000263062:p.Ala349Val		56	0	0		39	0.08	3	NM_001272004	40	0	0	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998398	0.54147	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.65549	-0.16;-0.16;-0.16	5.59	5.59	0.84812	.	0.180807	0.48767	D	0.000169	T	0.54208	0.1844	L	0.44542	1.39	0.42662	D	0.993485	B;B;B;B	0.14012	0.009;0.001;0.002;0.001	B;B;B;B	0.16289	0.009;0.009;0.015;0.002	T	0.52525	-0.8564	10	0.51188	T	0.08	-10.8768	12.1448	0.54018	0.0785:0.0:0.9215:0.0	.	349;299;349;349	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	V	299;349;349	ENSP00000364251:A299V;ENSP00000318559:A349V;ENSP00000263062:A349V	ENSP00000263062:A349V	A	-	2	0	EPC1	32616138	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.380000	0.52448	2.633000	0.89246	0.557000	0.71058	GCC			0.453	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000047484.1				A	32576132	G	A	32576132	3	1	39	1	0	0	0	0	1	0	0	0	5167	1203	42	2	1500	2	EPC1	10	32576132	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	4137186	32576132	102958615	31	2762											
ZMIZ1	57178	mdanderson.org	37	chr10	81067288	81067288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacatgcccaacaacatggCcgccctcgagaaacccctca	12	4	8	17	2	1	1	1	0	0	1	2	3	1	2	5	2	4	0	5	2	3	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:81067288C>T	ENST00000334512.5	+	23	3367	c.2795C>T	c.(2794-2796)gCc>gTc	p.A932V	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.A85V	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	932	Pro-rich.				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)			AACAACATGGCCGCCCTCGAG	0.607																																					p.A932V													.	.			0			c.C2795T												62	62	62					10																	81067288		2203	4300	6503	SO:0001583	missense	57178	exon23			ACATGGCCGCCCT	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.2795C>T	10.37:g.81067288C>T	ENSP00000334474:p.Ala932Val		58	0	0		49	0.06	3	NM_020338	61	0	0	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439567	0.43326	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347;ENST00000446377	T	0.31247	1.5	4.57	4.57	0.56435	.	0.000000	0.41294	D	0.000919	T	0.24470	0.0593	L	0.29908	0.895	0.39533	D	0.968699	B;B	0.25441	0.126;0.004	B;B	0.25614	0.062;0.012	T	0.06991	-1.0796	10	0.17369	T	0.5	-17.0006	17.8248	0.88661	0.0:1.0:0.0:0.0	.	85;932	B4DSG4;Q9ULJ6	.;ZMIZ1_HUMAN	V	932;862;833;85	ENSP00000334474:A932V	ENSP00000334474:A932V	A	+	2	0	ZMIZ1	80737294	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.303000	0.59098	2.269000	0.75478	0.650000	0.86243	GCC			0.607	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048944.2		NM_020338		T	81067288	C	T	81067288	3	4	39	1	0	0	0	0	1	0	0	0	17719	739	26	2	2869	2	ZMIZ1	10	81067288	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	48491156	81067288	54467459	32	2763											
SLIT1	6585	broad.mit.edu	37	chr10	98781011	98781011	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctcctaggctcaccttgGcattcaaacttcttggcagg	7	12	10	12	0	3	0	2	0	1	0	4	0	4	0	2	4	2	4	2	4	2	5			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:98781011G>T	ENST00000266058.4	-	26	2987	c.2742C>A	c.(2740-2742)tgC>tgA	p.C914*	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Nonsense_Mutation_p.C914*	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	914	LRRCT 4.				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)		GCTCACCTTGGCATTCAAACT	0.602																																					p.C914X													.	SLIT1	154		0			c.C2742A												57	46	50					10																	98781011		2203	4300	6503	SO:0001587	stop_gained	6585	exon26			ACCTTGGCATTCA	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.2742C>A	10.37:g.98781011G>T	ENSP00000266058:p.Cys914*		164	0	0		122	0.03	4	NM_003061	0		0	Q5T0V1|Q8WWZ2|Q9UIL7	Nonsense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	40	7.995932	0.98602	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1698	0.89742	0.0:0.0:1.0:0.0	.	.	.	.	X	914	.	ENSP00000266058:C914X	C	-	3	2	SLIT1	98771001	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.409000	0.66374	2.521000	0.84997	0.462000	0.41574	TGC			0.602	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049636.1		NM_003061		T	98781011	G	T	98781011	4	4	39	1	0	0	0	0	0	1	0	0	14762	1195	42	2	1910	2	SLIT1	10	98781011	Nonsense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	17713723	98781011	36753736	33	2764											
PSD	5662	mdanderson.org	37	chr10	104171931	104171931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtccagagtcatgcccGtgaagacaaagaacttgagg	12	8	12	9	1	1	5	1	2	0	3	2	5	2	5	2	2	2	0	2	2	3	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:104171931G>T	ENST00000020673.5	-	7	2328	c.1802C>A	c.(1801-1803)aCg>aAg	p.T601K	PSD_ENST00000406432.1_Missense_Mutation_p.T601K	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	601	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)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGTCATGCCCGTGAAGACAAA	0.587																																					p.T601K													PSD_ENST00000020673,NS,carcinoma,+1,2	PSD_ENST00000020673	1	2	0			c.C1802A												151	173	166					10																	104171931		2203	4300	6503	SO:0001583	missense	5662	exon8			ATGCCCGTGAAGA	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1802C>A	10.37:g.104171931G>T	ENSP00000020673:p.Thr601Lys		98	0	0		54	0.06	3	NM_001270965	0		0	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975336	0.74360	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.52526	0.66;0.66	5.32	5.32	0.75619	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.120317	0.56097	D	0.000040	T	0.55513	0.1925	L	0.47078	1.49	0.38756	D	0.954216	B	0.34181	0.44	P	0.45856	0.495	T	0.58526	-0.7621	10	0.49607	T	0.09	.	18.9992	0.92826	0.0:0.0:1.0:0.0	.	601	A5PKW4	PSD1_HUMAN	K	601;504;601	ENSP00000020673:T601K;ENSP00000384830:T601K	ENSP00000020673:T601K	T	-	2	0	PSD	104161921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.141000	0.64814	2.500000	0.84329	0.561000	0.74099	ACG			0.587	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050041.2				T	104171931	G	T	104171931	3	4	39	1	0	0	0	0	1	0	0	0	12666	1145	40	1	1316	1	PSD	10	104171931	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	5390920	104171931	31362816	34	2765											
C10orf79	80217	mdanderson.org	37	chr10	105932290	105932290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttccatcatattcaGaatctgaatgttgaaataaa	15	16	4	6	0	4	3	2	2	2	1	5	3	5	3	1	0	0	1	1	0	6	7			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:105932290G>T	ENST00000278064.2	-	20	2582	c.2257C>A	c.(2257-2259)Ctg>Atg	p.L753M	WDR96_ENST00000357060.3_Missense_Mutation_p.L822M|WDR96_ENST00000428666.1_Missense_Mutation_p.L823M																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCATATTCAGAATCTGAATG	0.294																																					p.L822M													.	.			0			c.C2464A												58	52	54					10																	105932290		2201	4298	6499	SO:0001583	missense	80217	exon20			TATTCAGAATCTG																												ENST00000278064.2:c.2257C>A	10.37:g.105932290G>T	ENSP00000278064:p.Leu753Met		88	0	0		49	0.06	3	NM_025145	0		0		Missense_Mutation	SNP	ENST00000278064.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.100|9.100	1.003833|1.003833	0.19199|0.19199	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000434629|ENST00000357060;ENST00000428666;ENST00000278064	.|T;T;T	.|0.14022	.|2.54;2.55;2.55	5.59|5.59	-1.17|-1.17	0.09648|0.09648	.|.	.|0.600040	.|0.15895	.|N	.|0.239375	T|T	0.09862|0.09862	0.0242|0.0242	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.24920	.|0.012;0.114;0.083	.|B;B;B	.|0.20955	.|0.017;0.032;0.017	T|T	0.20773|0.20773	-1.0265|-1.0265	5|10	.|0.46703	.|T	.|0.11	.|.	4.2747|4.2747	0.10802|0.10802	0.068:0.242:0.3355:0.3545|0.068:0.242:0.3355:0.3545	.|.	.|823;823;822	.|G5E9L1;B4DHB6;Q8NDM7	.|.;.;WDR96_HUMAN	L|M	182|822;823;753	.|ENSP00000349568:L822M;ENSP00000400289:L823M;ENSP00000278064:L753M	.|ENSP00000278064:L753M	F|L	-|-	3|1	2|2	WDR96|WDR96	105922280|105922280	0.642000|0.642000	0.27260|0.27260	0.000000|0.000000	0.03702|0.03702	0.095000|0.095000	0.18619|0.18619	0.788000|0.788000	0.26872|0.26872	-0.533000|-0.533000	0.06323|0.06323	-0.912000|-0.912000	0.02778|0.02778	TTC|CTG			0.294	WDR96-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000050200.1				T	105932290	G	T	105932290	3	4	39	1	0	0	0	0	1	0	0	0	1620	933	33	3	2609	3	C10orf79	10	105932290	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	1760359	105932290	29602457	35	2766											
TUB	7275	mdanderson.org	37	chr11	8118340	8118340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctctgctactagcaGgaagtccgtcagggtgagtg	8	8	13	12	1	2	1	1	1	1	0	3	2	3	2	3	2	4	3	3	2	3	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr11:8118340G>T	ENST00000299506.2	+	6	823	c.674G>T	c.(673-675)aGg>aTg	p.R225M	TUB_ENST00000305253.4_Missense_Mutation_p.R280M|TUB_ENST00000534099.1_Missense_Mutation_p.R231M	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	225					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCTACTAGCAGGAAGTCCGTC	0.532																																					p.R280M													.	.			0			c.G839T												86	80	82					11																	8118340		2201	4296	6497	SO:0001583	missense	7275	exon7			CTAGCAGGAAGTC	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.674G>T	11.37:g.8118340G>T	ENSP00000299506:p.Arg225Met		43	0	0		38	0.08	3	NM_003320	13	0	0	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595641	0.46318	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.85861	-2.02;-2.04;-2.02	4.78	2.46	0.29980	Tubby, N-terminal (1);	0.179046	0.64402	D	0.000015	T	0.78729	0.4329	N	0.22421	0.69	0.46113	D	0.998878	P;D;D	0.56287	0.731;0.958;0.975	B;P;P	0.53401	0.322;0.535;0.725	T	0.75769	-0.3201	10	0.48119	T	0.1	-17.2464	4.2755	0.10806	0.5129:0.0:0.4871:0.0	.	231;225;280	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	M	231;280;225	ENSP00000434400:R231M;ENSP00000305426:R280M;ENSP00000299506:R225M	ENSP00000299506:R225M	R	+	2	0	TUB	8074916	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.228000	0.58619	1.130000	0.42092	0.491000	0.48974	AGG			0.532	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385823.1		NM_003320		T	8118340	G	T	8118340	3	4	39	1	0	0	0	0	1	0	0	0	16766	1000	35	3	907	3	TUB	11	8118340	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		8118340	126888176	36	2767											
MS4A15	219995	mdanderson.org	37	chr11	60531240	60531240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccagcaatggagtgtttGttgtcatcccgccaaacaac	10	9	9	13	2	1	0	1	0	0	0	2	1	2	1	4	1	3	3	4	1	3	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr11:60531240G>T	ENST00000405633.3	+	2	113	c.34G>T	c.(34-36)Gtt>Ttt	p.V12F	MS4A15_ENST00000528170.1_Missense_Mutation_p.V12F|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	12						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						TGGAGTGTTTGTTGTCATCCC	0.547																																					p.V12F													.	.			0			c.G34T												101	100	101					11																	60531240		2049	4194	6243	SO:0001583	missense	219995	exon2			GTGTTTGTTGTCA	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.34G>T	11.37:g.60531240G>T	ENSP00000386022:p.Val12Phe		63	0	0		47	0.06	3	NM_001098835	0		0	A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513363	0.44660	.	.	ENSG00000166961	ENST00000528170;ENST00000405633	T;T	0.25250	1.81;2.34	5.21	5.21	0.72293	.	.	.	.	.	T	0.36496	0.0969	N	0.24115	0.695	0.31008	N	0.719579	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	T	0.23297	-1.0192	9	0.39692	T	0.17	-3.3375	14.2397	0.65950	0.0:0.0:1.0:0.0	.	12;12	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	F	12	ENSP00000434165:V12F;ENSP00000386022:V12F	ENSP00000386022:V12F	V	+	1	0	MS4A15	60287816	0.999000	0.42202	0.969000	0.41365	0.069000	0.16628	2.042000	0.41222	2.404000	0.81709	0.462000	0.41574	GTT			0.547	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395618.1				T	60531240	G	T	60531240	3	4	39	1	0	0	0	0	1	0	0	0	9875	1377	48	3	36	3	MS4A15	11	60531240	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	52412900	60531240	74475276	37	2768											
C1R	715	broad.mit.edu	37	chr12	7188347	7188347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacgctgaccctgcggatgGggtgatttcctagcttcatg	6	11	14	10	2	1	2	1	2	0	0	2	4	2	4	2	4	2	2	2	4	1	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:7188347G>T	ENST00000542285.1	-	11	1600	c.1451C>A	c.(1450-1452)cCc>cAc	p.P484H				P00736	C1R_HUMAN	complement component 1, r subcomponent	536	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)	CCTGCGGATGGGGTGATTTCC	0.547																																					.													.	C1R	49		0			.												127	135	132					12																	7188347		2197	4298	6495	SO:0001583	missense	715	.			CGGATGGGGTGAT	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.1451C>A	12.37:g.7188347G>T	ENSP00000438615:p.Pro484His		92	0	0		204	0.03	6	.	2165	0	1	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	G	11.79	1.744681	0.30865	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88509	-2.39	5.44	5.44	0.79542	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.077847	0.53938	D	0.000042	D	0.87767	0.6260	.	.	.	0.53005	D	0.999967	P	0.42337	0.776	B	0.41374	0.355	D	0.87327	0.2322	9	0.40728	T	0.16	.	19.2561	0.93947	0.0:0.0:1.0:0.0	.	536	P00736	C1R_HUMAN	H	499;484	ENSP00000438615:P484H	ENSP00000290575:P499H	P	-	2	0	C1R	7058602	1.000000	0.71417	0.943000	0.38184	0.163000	0.22366	4.942000	0.63547	2.540000	0.85666	0.591000	0.81541	CCC			0.547	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_001733		T	7188347	G	T	7188347	3	4	39	1	0	0	0	0	1	0	0	0	1974	1232	43	3	514	3	C1R	12	7188347	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		7188347	126663548	38	2769											
PPHLN1	51535	mdanderson.org	37	chr12	42729726	42729726	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtctgagggacgatatGaatatgaaagaattccgaga	14	10	13	4	2	1	5	0	3	1	2	2	8	2	6	1	2	0	0	1	2	5	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:42729726G>T	ENST00000395568.2	+	2	106	c.22G>T	c.(22-24)Gaa>Taa	p.E8*	PPHLN1_ENST00000552761.1_Nonsense_Mutation_p.E15*|PPHLN1_ENST00000449194.2_Nonsense_Mutation_p.E8*|PPHLN1_ENST00000358314.7_Nonsense_Mutation_p.E8*|PPHLN1_ENST00000549190.1_Nonsense_Mutation_p.E26*|PPHLN1_ENST00000395580.3_Nonsense_Mutation_p.E15*|PPHLN1_ENST00000317560.9_Nonsense_Mutation_p.E15*|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000337898.6_Nonsense_Mutation_p.E8*|PPHLN1_ENST00000432191.2_Nonsense_Mutation_p.E8*|PPHLN1_ENST00000256678.8_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	8					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)		GGGACGATATGAATATGAAAG	0.368																																					p.E15X													.	.			0			c.G43T												136	139	138					12																	42729726		2203	4300	6503	SO:0001587	stop_gained	51535	exon3			CGATATGAATATG	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.22G>T	12.37:g.42729726G>T	ENSP00000378935:p.Glu8*		70	0	0		47	0.06	3	NM_201440	50	0	0	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Nonsense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227754	0.95173	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191;ENST00000546750;ENST00000547847	.	.	.	5.34	4.44	0.53790	.	0.570316	0.19389	N	0.115454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-0.7079	10.0143	0.42006	0.091:0.0:0.909:0.0	.	.	.	.	X	26;15;8;8;8;8;15;15;8;15;8	.	ENSP00000322048:E15X	E	+	1	0	PPHLN1	41015993	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.486000	0.53215	1.617000	0.50277	0.650000	0.86243	GAA			0.368	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000404047.1		NM_201515		T	42729726	G	T	42729726	4	4	39	1	0	0	0	0	0	1	0	0	12332	1291	45	3	49	3	PPHLN1	12	42729726	Nonsense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	35541379	42729726	91122169	39	2770											
STAC3	246329	broad.mit.edu	37	chr12	57642942	57642942	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtggctcctcctcctcCtcttcttcctcttcctcttc	0	16	7	18	0	4	0	0	0	4	0	11	0	10	0	6	3	0	1	6	3	0	4	rs143709026		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:57642942C>T	ENST00000332782.2	-	3	417	c.216G>A	c.(214-216)gaG>gaA	p.E72E	STAC3_ENST00000554578.1_Silent_p.E33E|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	72	Poly-Glu.				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						cctcctcctcctcttcttcct	0.537																																					p.E72E													STAC3,caecum,carcinoma,0,1	STAC3	32	1	0			c.G216A							C		1,4405	2.1+/-5.4	0,1,2202	64	65	64		216	-4.2	0.4	12	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	STAC3	NM_145064.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		72/365	57642942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	246329	exon3			CTCCTCCTCTTCT	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.216G>A	12.37:g.57642942C>T			48	0	0		45	0.07	3	NM_145064	2	0	0	B4DUK9|Q96HU5	Silent	SNP	ENST00000332782.2	37	CCDS8936.1																																																																																					0.537	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412724.2		NM_145064		T	57642942	C	T	57642942	2	4	39	1	0	0	0	0	0	0	0	1	15264	680	24	3		3	STAC3	12	57642942	Silent	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	14913216	57642942	76208953	40	2771											
NAV3	89795	broad.mit.edu	37	chr12	78574724	78574724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacacagctaagcctactcGgccaccgtcagaatcctcaa	13	7	6	15	2	2	1	2	0	0	1	4	1	3	1	4	1	4	1	4	1	5	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:78574724G>T	ENST00000397909.2	+	30	5764	c.5591G>T	c.(5590-5592)cGg>cTg	p.R1864L	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.R1842L|NAV3_ENST00000228327.6_Missense_Mutation_p.R1842L|NAV3_ENST00000266692.7_Missense_Mutation_p.R1665L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1864						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						AAGCCTACTCGGCCACCGTCA	0.423										HNSCC(70;0.22)																											p.R1842L													NAV3,caecum,carcinoma,+1,1	NAV3	506	1	0			c.G5525T												102	104	104					12																	78574724		1988	4165	6153	SO:0001583	missense	89795	exon29			CTACTCGGCCACC	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.5591G>T	12.37:g.78574724G>T	ENSP00000381007:p.Arg1864Leu		167	0	0		174	0.03	5	NM_014903	10	0	0	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.296939	0.95574	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.29397	1.63;1.63;1.63;1.57;2.44	6.02	6.02	0.97574	.	0.000000	0.37669	U	0.001994	T	0.52757	0.1754	L	0.47716	1.5	0.80722	D	1	B;D;D;D	0.89917	0.37;0.996;1.0;0.998	B;D;D;D	0.87578	0.075;0.992;0.998;0.994	T	0.44772	-0.9306	10	0.59425	D	0.04	-15.3249	20.547	0.99278	0.0:0.0:1.0:0.0	.	1842;1665;1864;1842	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1842;1864;1842;1665;456;464	ENSP00000446132:R1842L;ENSP00000381007:R1864L;ENSP00000228327:R1842L;ENSP00000266692:R1665L;ENSP00000448303:R464L	ENSP00000228327:R1842L	R	+	2	0	NAV3	77098855	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	7.636000	0.83301	2.850000	0.98022	0.650000	0.86243	CGG			0.423	NAV3-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000406812.1		NM_001024383		T	78574724	G	T	78574724	3	4	39	1	0	0	0	0	1	0	0	0	10201	1116	39	1	5639	1	NAV3	12	78574724	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	20931782	78574724	55277171	41	2772											
KDM2B	84678	mdanderson.org	37	chr12	121878619	121878619	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcctggcaactcacCtggcctgttgtctgtgggcg	4	9	12	16	1	2	0	1	0	1	0	2	0	2	0	5	3	2	2	5	3	1	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:121878619C>T	ENST00000377071.4	-	21	3682	c.3610G>A	c.(3610-3612)Ggt>Agt	p.G1204S	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Splice_Site_p.G572S|KDM2B_ENST00000377069.4_Splice_Site_p.G1135S	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1204					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						GGCAACTCACCTGGCCTGTTG	0.607																																					p.G1204S													.	.			0			c.G3610A												34	40	38					12																	121878619		1996	4173	6169	SO:0001630	splice_region_variant	84678	exon21			ACTCACCTGGCCT	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.3610+1G>A	12.37:g.121878619C>T			47	0	0		55	0.05	3	NM_032590	49	0	0	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.272789|5.272789	0.95429|0.95429	.|.	.|.	ENSG00000089094|ENSG00000089094	ENST00000397480|ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	.|T;T;T	.|0.34667	.|1.35;1.35;1.35	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.53938	.|D	.|0.000051	T|T	0.62429|0.62429	0.2427|0.2427	M|M	0.71581|0.71581	2.175|2.175	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	.|0.87578	.|0.996;0.998;0.998;0.998	T|T	0.58070|0.58070	-0.7701|-0.7701	5|9	.|.	.|.	.|.	-15.8974|-15.8974	20.3214|20.3214	0.98679|0.98679	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|644;1204;1135;647	.|B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.|.;KDM2B_HUMAN;.;.	T|S	1192|572;1135;1204;647;1207	.|ENSP00000437821:G572S;ENSP00000366269:G1135S;ENSP00000366271:G1204S	.|.	A|G	-|-	1|1	0|0	KDM2B|KDM2B	120363002|120363002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.613000|0.613000	0.37349|0.37349	7.625000|7.625000	0.83145|0.83145	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GCA|GGT			0.607	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000402132.2		NM_032590	Missense_Mutation	T	121878619	C	T	121878619	5	4	39	1	0	0	0	0	0	0	1	0	8140	695	24	3	464	3	KDM2B	12	121878619	Splice_Site	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	43303895	121878619	11973276	42	2773											
BRI3BP	140707	broad.mit.edu	37	chr12	125478382	125478384	+	In_Frame_Del	DEL	CTG	CTG	-																															ccctggcccgggccgggctcCtgctgctgctgctgctgctg																								rs374894130		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:125478382_125478384delCTG	ENST00000341446.8	+	1	137_139	c.46_48delCTG	c.(46-48)ctgdel	p.L25del		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		ggccgggctcctgctgctgctgc	0.823																																					p.16_16del													.	BRI3BP	18		0			c.46_48del									73,1,19,363		34,0,1,4,0,0,1,8,2,178						-1.5	0		dbSNP_130	1	320,55,65,992		133,3,3,48,24,0,4,26,10,465	no	codingComplex	BRI3BP	NM_080626.5		167,3,4,52,24,0,5,34,12,643	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		30.7263,20.3947,28.2309				393,56,84,1355				SO:0001651	inframe_deletion	140707	exon1			GGGCTCCTGCTGC	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.46_48delCTG	12.37:g.125478391_125478393delCTG	ENSP00000340761:p.Leu25del		14	0	0		6	0.33	2	NM_080626	0		0		In_Frame_Del	DEL	ENST00000341446.8	37	CCDS9262.1																																																																																					0.823	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400200.2		NM_080626		-	125478384	CTG	-	125478382	7	5	39	1	0	1	0	1	0	0	0	0	1515	680	24	0	48	0	BRI3BP	12	125478382	In_Frame_Del	DEL	CTG	TCGA-2G-AAGV-01A-11D-A42Y-10	3599763	125478382	8373513	43	2774											
IPO5	3843	bcgsc.ca;mdanderson.org	37	chr13	98634777	98634777	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacctatgagaatatcccAggccagtcaaagatcacatt	16	8	7	10	0	2	2	2	1	0	2	3	4	3	2	3	1	1	0	3	1	5	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr13:98634777A>G	ENST00000490680.1	+	2	176	c.111A>G	c.(109-111)ccA>ccG	p.P37P	IPO5_ENST00000539640.1_Silent_p.P37P|IPO5_ENST00000261574.5_Silent_p.P55P			O00410	IPO5_HUMAN	importin 5	37	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AGAATATCCCAGGCCAGTCAA	0.358																																					p.P55P													.	IPO5	90		0			c.A165G												98	94	95					13																	98634777		2203	4300	6503	SO:0001819	synonymous_variant	3843	exon5			TATCCCAGGCCAG	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.111A>G	13.37:g.98634777A>G			79	0	0		61	0.08	5	NM_002271	47	0	0	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	A	7.756	0.704277	0.15172	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.59	-0.0745	0.13731	.	.	.	.	.	T	0.50394	0.1613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40384	-0.9566	4	.	.	.	-9.9626	5.072	0.14611	0.5287:0.0:0.2766:0.1947	.	.	.	.	R	39	.	.	Q	+	2	0	IPO5	97432778	0.990000	0.36364	1.000000	0.80357	0.700000	0.40528	0.383000	0.20651	0.384000	0.24942	0.482000	0.46254	CAG			0.358	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000354655.1		NM_002271		G	98634777	A	G	98634777	2	3	39	1	0	0	0	0	0	0	0	1	7811	175	7	4		4	IPO5	13	98634777	Silent	SNP	A	TCGA-2G-AAGV-01A-11D-A42Y-10		98634777	16535101	44	2775											
PNN	5411	mdanderson.org	37	chr14	39644508	39644508	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtcgccgtgagaactttgCaggaacagctggaaaaggcc	11	6	14	10	3	0	1	0	1	0	1	1	4	0	3	2	4	4	2	2	4	4	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr14:39644508C>T	ENST00000216832.4	+	1	92	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Nonsense_Mutation_p.Q9*|PNN_ENST00000553331.1_Nonsense_Mutation_p.Q9*	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	9	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				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)		GAGAACTTTGCAGGAACAGCT	0.592																																					p.Q9X													.	.			0			c.C25T												56	48	51					14																	39644508		2203	4300	6503	SO:0001587	stop_gained	5411	exon1			ACTTTGCAGGAAC	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.25C>T	14.37:g.39644508C>T	ENSP00000216832:p.Gln9*		67	0	0		52	0.06	3	NM_002687	61	0	0	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Nonsense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	C	38	6.917353	0.97932	.	.	ENSG00000100941	ENST00000553331;ENST00000216832;ENST00000556530	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.0999	20.6244	0.99512	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000216832:Q9X	Q	+	1	0	PNN	38714259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.607000	0.82883	2.879000	0.98667	0.650000	0.86243	CAG			0.592	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276776.2		NM_002687		T	39644508	C	T	39644508	4	4	39	1	0	0	0	0	0	1	0	0	12177	711	25	2	27	2	PNN	14	39644508	Nonsense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10		39644508	67705032	45	2776											
DCAF5	8816	mdanderson.org	37	chr14	69521081	69521081	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagcttcttggtttcaaaAgggtgctctacagagccgct	8	13	11	9	1	3	2	1	1	2	1	3	2	3	2	1	2	4	4	1	2	3	5			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr14:69521081A>G	ENST00000341516.5	-	9	2469	c.2322T>C	c.(2320-2322)ccT>ccC	p.P774P	DCAF5_ENST00000554215.1_Silent_p.P692P|DCAF5_ENST00000556847.1_Silent_p.P692P|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000557386.1_Silent_p.P773P	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	774					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						TGGTTTCAAAAGGGTGCTCTA	0.597																																					p.P774P													DCAF5,bladder,carcinoma,-1,1	DCAF5	-1	1	0			c.T2322C												60	66	64					14																	69521081		2202	4300	6502	SO:0001819	synonymous_variant	8816	exon9			TTCAAAAGGGTGC	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.2322T>C	14.37:g.69521081A>G			45	0	0		47	0.06	3	NM_003861	76	0	0	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	37	CCDS32106.1																																																																																					0.597	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000414806.2		NM_003861		G	69521081	A	G	69521081	2	3	39	1	0	0	0	0	0	0	0	1	4275	59	3	4		4	DCAF5	14	69521081	Silent	SNP	A	TCGA-2G-AAGV-01A-11D-A42Y-10	29876573	69521081	37828459	46	2777											
ACOT2	10965	broad.mit.edu	37	chr14	74041690	74041690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatggcctctttcctgaagGgcatcacggctgctgtcgtc	5	11	11	14	2	2	1	1	1	1	0	5	1	3	1	3	3	1	3	3	3	1	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr14:74041690G>T	ENST00000238651.5	+	3	1107	c.925G>T	c.(925-927)Ggc>Tgc	p.G309C	ACOT2_ENST00000557857.1_3'UTR|ACOT2_ENST00000538782.1_Missense_Mutation_p.G112C	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	309					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TTTCCTGAAGGGCATCACGGC	0.547																																					p.G309C													.	ACOT2	24		0			c.G925T												41	41	41					14																	74041690		2201	4286	6487	SO:0001583	missense	10965	exon3			CTGAAGGGCATCA	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.925G>T	14.37:g.74041690G>T	ENSP00000238651:p.Gly309Cys		350	0.0028571429	1		324	0.01	4	NM_006821	155	0	0	Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596231	0.66332	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.47528	0.84;0.95	4.36	4.36	0.52297	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.314863	0.38111	N	0.001819	T	0.69369	0.3103	M	0.82630	2.6	0.43036	D	0.99461	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.996	T	0.75167	-0.3413	10	0.72032	D	0.01	-16.544	12.7494	0.57300	0.0:0.1654:0.8346:0.0	.	247;309;112	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	C	112;309	ENSP00000440961:G112C;ENSP00000238651:G309C	ENSP00000238651:G309C	G	+	1	0	ACOT2	73111443	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.128000	0.15810	1.968000	0.57251	0.511000	0.50034	GGC			0.547	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414435.1		NM_006821		T	74041690	G	T	74041690	3	4	39	1	0	0	0	0	1	0	0	0	152	1232	43	3	935	3	ACOT2	14	74041690	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	4520609	74041690	33307850	47	2778											
MTMR15	22909	mdanderson.org	37	chr15	31217994	31217994	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgctgctgtttcaggtGaccatcacaggcaggctgtg	7	12	12	10	0	3	1	2	1	1	0	3	1	3	1	1	3	2	5	1	3	0	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:31217994G>T	ENST00000362065.4	+	10	2631	c.2340G>T	c.(2338-2340)gtG>gtT	p.V780V	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	780					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						TGTTTCAGGTGACCATCACAG	0.557								Direct reversal of damage																													p.V780V													.	.			0			c.G2340T												249	252	251					15																	31217994		2202	4300	6502	SO:0001819	synonymous_variant	22909	exon10			TCAGGTGACCATC		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.2340G>T	15.37:g.31217994G>T			35	0	0		38	0.08	3	NM_014967	21	0	0	A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	CCDS32186.1																																																																																					0.557	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430740.1		NM_014967		T	31217994	G	T	31217994	2	4	39	1	0	0	0	0	0	0	0	1	9959	1277	45	3		3	MTMR15	15	31217994	Silent	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		31217994	71313398	48	2779											
EIF2AK4	440275	mdanderson.org	37	chr15	40268993	40268993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcccgggctccagcgatGacgaggacgacgacgaggac	9	2	16	14	7	0	1	0	1	0	0	1	8	1	3	3	4	1	1	3	4	0	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:40268993G>T	ENST00000263791.5	+	12	2240	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D733Y	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	733	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)		CTCCAGCGATGACGAGGACGA	0.697																																					p.D733Y													.	.			0			c.G2197T												47	51	50					15																	40268993		1777	3876	5653	SO:0001583	missense	440275	exon12			AGCGATGACGAGG	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.2197G>T	15.37:g.40268993G>T	ENSP00000263791:p.Asp733Tyr		30	0	0		35	0.09	3	NM_001013703	21	0	0	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285029	0.80803	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.72835	-0.69;-0.64	5.34	5.34	0.76211	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.276882	0.40554	N	0.001062	T	0.75436	0.3849	L	0.43646	1.37	0.80722	D	1	D	0.54397	0.966	P	0.53224	0.721	T	0.77797	-0.2453	10	0.72032	D	0.01	-8.3704	19.4115	0.94675	0.0:0.0:1.0:0.0	.	733	Q9P2K8	E2AK4_HUMAN	Y	733	ENSP00000263791:D733Y;ENSP00000372174:D733Y	ENSP00000263791:D733Y	D	+	1	0	EIF2AK4	38056285	1.000000	0.71417	0.999000	0.59377	0.114000	0.19823	9.469000	0.97679	2.651000	0.90000	0.585000	0.79938	GAC			0.697	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418395.1				T	40268993	G	T	40268993	3	4	39	1	0	0	0	0	1	0	0	0	5004	1290	45	3	2243	3	EIF2AK4	15	40268993	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	9050999	40268993	62262399	49	2780											
CSK	1445	mdanderson.org	37	chr15	75091663	75091663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagcggcttctgtaccCgccggagacaggcctgttcc	5	8	14	14	3	1	2	0	1	1	1	2	3	2	2	4	4	2	4	4	4	1	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:75091663C>T	ENST00000220003.9	+	5	1022	c.293C>T	c.(292-294)cCg>cTg	p.P98L	CSK_ENST00000309470.9_Missense_Mutation_p.P98L|CSK_ENST00000439220.2_Missense_Mutation_p.P98L|CSK_ENST00000567571.1_Missense_Mutation_p.P98L	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	98	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						CTTCTGTACCCGCCGGAGACA	0.637																																					p.P98L													.	.			0			c.C293T												53	50	51					15																	75091663		2197	4295	6492	SO:0001583	missense	1445	exon5			TGTACCCGCCGGA		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.293C>T	15.37:g.75091663C>T	ENSP00000220003:p.Pro98Leu		46	0	0		42	0.07	3	NM_004383	132	0	0	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159223	0.94686	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000309470	D;D;D	0.88201	-2.35;-2.35;-2.35	4.63	4.63	0.57726	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.92919	0.7747	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90516	0.4485	10	0.17832	T	0.49	-16.0705	17.2555	0.87055	0.0:1.0:0.0:0.0	.	98	P41240	CSK_HUMAN	L	98	ENSP00000220003:P98L;ENSP00000414764:P98L;ENSP00000438808:P98L	ENSP00000220003:P98L	P	+	2	0	CSK	72878716	1.000000	0.71417	0.947000	0.38551	0.930000	0.56654	7.198000	0.77823	2.410000	0.81850	0.491000	0.48974	CCG			0.637	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286398.2		NM_004383		T	75091663	C	T	75091663	3	4	39	1	0	0	0	0	1	0	0	0	3945	652	23	1	307	1	CSK	15	75091663	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	34822670	75091663	27439729	50	2781											
POLG	5428	mdanderson.org	37	chr15	89876861	89876861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgctgcCgccgccgctgcccgtcgctg	0	9	14	18	5	0	0	0	0	0	0	1	0	0	0	4	0	7	8	4	0	0	0	rs74382477		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:89876861C>T	ENST00000268124.5	-	2	458	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	POLG_ENST00000442287.2_Missense_Mutation_p.R42Q|RP11-217B1.2_ENST00000569473.1_RNA|RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000525806.1_5'Flank	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	42					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ctgctgctgccgccgccgctg	0.736								DNA polymerases (catalytic subunits)																													p.R42Q	Colon(73;648 1203 11348 18386 27782)												.	.			0			c.G125A																																									SO:0001583	missense	5428	exon2			TGCTGCCGCCGCC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.125G>A	15.37:g.89876861C>T	ENSP00000268124:p.Arg42Gln		17	0	0		19	0.26	5	NM_001126131	13	0	0	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	4.741	0.137797	0.09032	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96200	-3.94;-3.94	2.53	-0.795	0.10915	.	0.227039	0.13631	U	0.373696	D	0.84511	0.5488	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72805	-0.4182	10	0.10636	T	0.68	.	5.1171	0.14840	0.0:0.2444:0.3969:0.3588	.	42	P54098	DPOG1_HUMAN	Q	42	ENSP00000268124:R42Q;ENSP00000399851:R42Q	ENSP00000268124:R42Q	R	-	2	0	POLG	87677865	0.017000	0.18338	0.003000	0.11579	0.012000	0.07955	-0.201000	0.09464	-0.338000	0.08413	-1.937000	0.00501	CGG			0.736	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000312854.2		NM_002693		T	89876861	C	T	89876861	3	4	39	1	0	0	0	0	1	0	0	0	12217	652	23	1	3682	1	POLG	15	89876861	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	14785198	89876861	12654531	51	2782											
ADAMTS17	170691	broad.mit.edu;mdanderson.org	37	chr15	100882053	100882053	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtccagtccccaaaccaGcagcagcagcacgggcagga	11	2	13	15	2	0	0	0	0	0	0	2	1	2	1	4	3	5	5	4	3	1	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:100882053G>C	ENST00000268070.4	-	1	157	c.52C>G	c.(52-54)Ctg>Gtg	p.L18V	SPATA41_ENST00000560282.1_lincRNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	18						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCCCAAACCAGCAGCAGCAGC	0.726																																					p.L18V													.	ADAMTS17	127		0			c.C52G												22	22	22					15																	100882053		2101	4143	6244	SO:0001583	missense	170691	exon1			AAACCAGCAGCAG	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.52C>G	15.37:g.100882053G>C	ENSP00000268070:p.Leu18Val		47	0	0		48	0.06	3	NM_139057	5	0	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847327	0.32606	.	.	ENSG00000140470	ENST00000268070	T	0.64618	-0.11	4.2	3.28	0.37604	.	0.000000	0.37857	N	0.001910	T	0.32941	0.0846	N	0.08118	0	0.24060	N	0.996015	P	0.36683	0.565	B	0.29176	0.099	T	0.15492	-1.0435	10	0.17369	T	0.5	.	9.0212	0.36202	0.1064:0.0:0.8936:0.0	.	18	Q8TE56	ATS17_HUMAN	V	18	ENSP00000268070:L18V	ENSP00000268070:L18V	L	-	1	2	ADAMTS17	98699576	0.983000	0.35010	0.999000	0.59377	0.317000	0.28152	1.744000	0.38268	0.750000	0.32877	-0.152000	0.13540	CTG			0.726	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313595.1		NM_139057		C	100882053	G	C	100882053	3	2	39	1	0	0	0	0	1	0	0	0	262	962	34	5	3323	5	ADAMTS17	15	100882053	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	11005192	100882053	1649339	52	2783											
TMEM8A	58986	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	422631	422631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatggaggccatgatcaCgaaggcaaagaggcagggcc	13	3	14	11	1	1	2	1	1	0	1	1	4	1	3	3	5	0	2	3	5	2	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr16:422631C>T	ENST00000431232.2	-	12	2159	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M	MRPL28_ENST00000429738.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.V474M|MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000389675.2_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	667					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCCATGATCACGAAGGCAAAG	0.622																																					p.V667M													.	TMEM8A	49		0			c.G1999A												102	97	98					16																	422631		2202	4300	6502	SO:0001583	missense	58986	exon12			TGATCACGAAGGC	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1999G>A	16.37:g.422631C>T	ENSP00000401338:p.Val667Met		37	0	0		20	0.2	4	NM_021259	70	0.39	27	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243694	0.39697	.	.	ENSG00000129925	ENST00000431232;ENST00000250930;ENST00000448854	T;T;T	0.45668	0.89;0.89;0.89	3.97	1.89	0.25635	.	0.264569	0.26052	N	0.026630	T	0.36166	0.0957	M	0.74881	2.28	0.09310	N	0.999998	P	0.49696	0.927	B	0.39617	0.305	T	0.32052	-0.9921	10	0.45353	T	0.12	-17.2597	5.8531	0.18704	0.0:0.5074:0.3095:0.1831	.	667	Q9HCN3	TMM8A_HUMAN	M	667;474;215	ENSP00000401338:V667M;ENSP00000250930:V474M;ENSP00000401931:V215M	ENSP00000250930:V474M	V	-	1	0	TMEM8A	362632	0.000000	0.05858	0.499000	0.27577	0.989000	0.77384	-0.953000	0.03877	0.862000	0.35528	0.455000	0.32223	GTG			0.622	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000109257.2		NM_021259		T	422631	C	T	422631	3	4	39	1	0	0	0	0	1	0	0	0	16237	536	19	1	324	1	TMEM8A	16	422631	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10		422631	89932122	53	2784											
THAP11	57215	mdanderson.org	37	chr16	67876485	67876485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttacgtgctgcgtgccaGgctgctacaacaactcgcac	8	9	10	14	3	0	0	0	0	0	0	1	0	0	0	1	1	8	5	1	1	4	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr16:67876485G>T	ENST00000303596.1	+	1	273	c.28G>T	c.(28-30)Ggc>Tgc	p.G10C	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CTGCGTGCCAGGCTGCTACAA	0.687																																					p.G10C													.	.			0			c.G28T												29	17	22					16																	67876485		2031	3902	5933	SO:0001583	missense	57215	exon1			GTGCCAGGCTGCT	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.28G>T	16.37:g.67876485G>T	ENSP00000304689:p.Gly10Cys		43	0	0		44	0.07	3	NM_020457	25	0	0	A4UCT5|A8K002|O94795	Missense_Mutation	SNP	ENST00000303596.1	37	CCDS10847.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994984	0.54041	.	.	ENSG00000168286	ENST00000303596	D	0.97066	-4.23	5.19	5.19	0.71726	Zinc finger, C2CH-type (3);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99636	1.0987	10	0.87932	D	0	-14.0507	18.6587	0.91463	0.0:0.0:1.0:0.0	.	10	Q96EK4	THA11_HUMAN	C	10	ENSP00000304689:G10C	ENSP00000304689:G10C	G	+	1	0	THAP11	66433986	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	8.824000	0.92023	2.573000	0.86826	0.561000	0.74099	GGC			0.687	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268879.1		NM_020457		T	67876485	G	T	67876485	3	4	39	1	0	0	0	0	1	0	0	0	15866	1000	35	3	30	3	THAP11	16	67876485	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	67453854	67876485	22478268	54	2785											
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	3937397	3937397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtcccctgcagcaaacaGgttgtgtttggctgagagga	9	10	13	9	0	0	1	0	1	0	1	1	3	1	2	2	3	3	5	2	3	1	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:3937397G>T	ENST00000381638.2	-	40	6620	c.6496C>A	c.(6496-6498)Ctg>Atg	p.L2166M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2166							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						GCAGCAAACAGGTTGTGTTTG	0.542																																					p.L2166M													.	.			0			c.C6496A												168	158	161					17																	3937397		2203	4300	6503	SO:0001583	missense	23140	exon40			CAAACAGGTTGTG	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.6496C>A	17.37:g.3937397G>T	ENSP00000371051:p.Leu2166Met		124	0	0		150	0.1	15	NM_015113	24	0.13	3	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186824	0.57909	.	.	ENSG00000074755	ENST00000381638	T	0.25085	1.82	5.5	0.145	0.14829	.	0.179591	0.38005	N	0.001850	T	0.22205	0.0535	N	0.24115	0.695	0.32681	N	0.515436	P;P	0.50617	0.937;0.895	P;P	0.53809	0.735;0.548	T	0.27088	-1.0084	10	0.66056	D	0.02	-9.3605	5.8696	0.18797	0.4389:0.0:0.4386:0.1224	.	2166;2166	O43149-2;O43149	.;ZZEF1_HUMAN	M	2166	ENSP00000371051:L2166M	ENSP00000371051:L2166M	L	-	1	2	ZZEF1	3884146	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	0.742000	0.26216	-0.063000	0.13065	-0.794000	0.03295	CTG			0.542	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207480.1		NM_015113		T	3937397	G	T	3937397	3	4	39	1	0	0	0	0	1	0	0	0	18278	991	35	3	2453	3	ZZEF1	17	3937397	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		3937397	77257813	55	2786											
DHRS7C	201140	broad.mit.edu;mdanderson.org	37	chr17	9674864	9674864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggccaccacggcgaaaaAgaactccgggaagaaggtgc	15	2	13	11	3	0	2	0	0	0	2	1	4	1	3	3	4	2	0	3	4	5	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:9674864A>G	ENST00000330255.5	-	6	892	c.880T>C	c.(880-882)Ttt>Ctt	p.F294L	DHRS7C_ENST00000571134.1_Missense_Mutation_p.F293L	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	294					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACGGCGAAAAAGAACTCCGGG	0.592																																					p.F294L													.	DHRS7C	34		0			c.T880C												49	56	53					17																	9674864		2029	4169	6198	SO:0001583	missense	201140	exon6			CGAAAAAGAACTC		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.880T>C	17.37:g.9674864A>G	ENSP00000327975:p.Phe294Leu		54	0	0		80	0.05	4	NM_001220493	1	0	0	B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603295	0.46423	.	.	ENSG00000184544	ENST00000330255	D	0.85556	-2.0	5.5	5.5	0.81552	.	0.049428	0.85682	D	0.000000	D	0.82444	0.5038	L	0.52126	1.63	0.45762	D	0.998657	B;B	0.26809	0.141;0.16	B;B	0.27380	0.046;0.079	T	0.81102	-0.1085	10	0.62326	D	0.03	.	14.7364	0.69419	1.0:0.0:0.0:0.0	.	294;290	A6NNS2;B9EJH3	DRS7C_HUMAN;.	L	294	ENSP00000327975:F294L	ENSP00000327975:F294L	F	-	1	0	DHRS7C	9615589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.454000	0.60068	2.302000	0.77476	0.533000	0.62120	TTT			0.592	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439863.1		XM_113912		G	9674864	A	G	9674864	3	3	39	1	0	0	0	0	1	0	0	0	4502	72	3	4	62	4	DHRS7C	17	9674864	Missense_Mutation	SNP	A	TCGA-2G-AAGV-01A-11D-A42Y-10	5737467	9674864	71520346	56	2787											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		211	0.0379146919	8		203	0.04	9	NM_145301	31	0.61	19	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	39	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	5782223	15457087	65738123	57	2788											
ARMC7	79637	mdanderson.org	37	chr17	73106427	73106427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccacgtcgggcggctggGatacctgcaggcgctggtca	5	6	15	15	4	1	0	1	0	0	0	2	1	1	1	3	5	2	3	3	5	1	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:73106427G>T	ENST00000245543.1	+	1	346	c.44G>T	c.(43-45)gGa>gTa	p.G15V	ARMC7_ENST00000582136.1_Missense_Mutation_p.G15V|ARMC7_ENST00000581078.1_Missense_Mutation_p.G15V|ARMC7_ENST00000584947.1_Missense_Mutation_p.G15V	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	15						cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GGGCGGCTGGGATACCTGCAG	0.701																																					p.G15V													.	.			0			c.G44T												30	34	32					17																	73106427		2203	4300	6503	SO:0001583	missense	79637	exon1			GGCTGGGATACCT	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"Armadillo repeat containing"	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.44G>T	17.37:g.73106427G>T	ENSP00000245543:p.Gly15Val		66	0	0		65	0.06	4	NM_024585	9	0	0	B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815119	0.50527	.	.	ENSG00000125449	ENST00000245543	T	0.62788	0.0	5.85	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.058089	0.64402	D	0.000002	T	0.53899	0.1825	M	0.62723	1.935	0.58432	D	0.999999	P;B	0.34724	0.465;0.259	B;B	0.36766	0.232;0.021	T	0.58629	-0.7603	10	0.62326	D	0.03	.	2.6239	0.04924	0.2561:0.3034:0.4405:0.0	.	15;15	B4DVA4;Q9H6L4	.;ARMC7_HUMAN	V	15	ENSP00000245543:G15V	ENSP00000245543:G15V	G	+	2	0	ARMC7	70618022	1.000000	0.71417	0.966000	0.40874	0.882000	0.50991	4.660000	0.61511	1.441000	0.47550	0.655000	0.94253	GGA			0.701	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445846.1		NM_024585		T	73106427	G	T	73106427	3	4	39	1	0	0	0	0	1	0	0	0	956	1174	41	3	46	3	ARMC7	17	73106427	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	57649340	73106427	8088783	58	2789											
TBCD	6904	mdanderson.org	37	chr17	80887305	80887305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcatcacccagctccttGggctgcccacctaccgctac	7	7	7	20	2	1	0	1	0	0	0	2	0	2	0	5	1	4	4	5	1	2	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:80887305G>T	ENST00000355528.4	+	32	3050	c.2920G>T	c.(2920-2922)Ggg>Tgg	p.G974W	TBCD_ENST00000539345.2_Missense_Mutation_p.G974W	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	974					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCAGCTCCTTGGGCTGCCCAC	0.667																																					p.G974W													.	.			0			c.G2920T												42	50	48					17																	80887305		2168	4257	6425	SO:0001583	missense	6904	exon32			CTCCTTGGGCTGC	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2920G>T	17.37:g.80887305G>T	ENSP00000347719:p.Gly974Trp		55	0	0		47	0.06	3	NM_005993	179	0	0	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543793	0.45280	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.32753	1.44	5.0	4.02	0.46733	Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.292074	0.32273	N	0.006339	T	0.53867	0.1823	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.992;0.997;0.995	T	0.55386	-0.8149	9	.	.	.	.	13.1496	0.59482	0.0:0.162:0.838:0.0	.	725;974;974	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	W	974;725	ENSP00000347719:G974W	.	G	+	1	0	TBCD	78480594	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.504000	0.53347	1.077000	0.40990	-0.305000	0.09177	GGG			0.667	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439415.1		NM_005993		T	80887305	G	T	80887305	3	4	39	1	0	0	0	0	1	0	0	0	15656	1348	47	3	3046	3	TBCD	17	80887305	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	7780878	80887305	307905	59	2790											
MEX3C	51320	mdanderson.org	37	chr18	48703101	48703101	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatggctgacttcctctgcGctgagtcttcatgttaccag	7	13	10	11	1	3	3	1	2	2	1	4	3	4	3	2	1	2	3	2	1	1	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr18:48703101G>T	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CTTCCTCTGCGCTGAGTCTTC	0.493																																					p.R534S													.	.			0			c.C1600A												88	85	86					18																	48703101		2203	4300	6503	SO:0001631	upstream_gene_variant	51320	exon2			CTCTGCGCTGAGT	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693		18.37:g.48703101G>T	Exception_encountered		99	0	0		61	0.07	4	NM_016626	22	0	0	A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37		.	.	.	.	.	.	.	.	.	.	G	14.37	2.516261	0.44763	.	.	ENSG00000176624	ENST00000406189	T	0.37235	1.21	5.87	5.87	0.94306	.	0.567693	0.19847	N	0.104733	T	0.37320	0.0999	M	0.64997	1.995	0.36053	D	0.840901	P	0.44380	0.834	B	0.36418	0.224	T	0.47169	-0.9138	10	0.29301	T	0.29	-7.6253	18.9748	0.92731	0.0:0.0:1.0:0.0	.	534	Q5U5Q3	MEX3C_HUMAN	S	534	ENSP00000385610:R534S	ENSP00000385610:R534S	R	-	1	0	MEX3C	46957099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.838000	0.48199	2.779000	0.95612	0.655000	0.94253	CGC			0.493	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding		OTTHUMT00000449559.1		NM_016626		T	48703101	G	T	48703101	1	4	39	0	1	0	0	0	0	0	0	0	9527	1087	38	1		1	MEX3C	18	48703101	5'Flank	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		48703101	29374147	60	2791											
C19orf26	255057	mdanderson.org	37	chr19	1236073	1236073	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggtggtggtggcggcTgtggccatggtggctgtggg	1	11	24	5	1	0	0	0	0	0	0	0	0	0	0	1	10	0	2	1	10	0	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:1236073T>C	ENST00000382477.2	-	2	283	c.9A>G	c.(7-9)acA>acG	p.T3T	C19orf26_ENST00000215376.6_Silent_p.T3T|AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000590083.1_Silent_p.T9T			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	3	Thr-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		tggtggcggctgtggccatgg	0.657										HNSCC(14;0.022)																											p.T9T													.	.			0			c.A27G												23	15	18					19																	1236073		2192	4291	6483	SO:0001819	synonymous_variant	255057	exon2			GGCGGCTGTGGCC	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.9A>G	19.37:g.1236073T>C			14	0	0		15	0.13	2	NM_152769	1	0	0	O43385	Silent	SNP	ENST00000382477.2	37																																																																																						0.657	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_152769		C	1236073	T	C	1236073	2	2	39	1	0	0	0	0	0	0	0	1	1918	1567	55	4		4	C19orf26	19	1236073	Silent	SNP	T	TCGA-2G-AAGV-01A-11D-A42Y-10		1236073	57892910	61	2792											
PDE4A	5141	mdanderson.org	37	chr19	10563985	10563985	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgctctaagccttggCtggtgggctggtgggaccag	6	9	16	10	0	1	1	0	0	1	1	1	2	1	2	3	5	2	3	3	5	1	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:10563985C>T	ENST00000352831.6	+	7	893				PDE4A_ENST00000293683.5_Intron|PDE4A_ENST00000380702.2_Intron|PDE4A_ENST00000440014.2_Intron|PDE4A_ENST00000344979.3_Silent_p.L16L|PDE4A_ENST00000592685.1_Intron	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TAAGCCTTGGCTGGTGGGCTG	0.647																																					p.L16L													.	.			0			c.C46T												58	45	50					19																	10563985		2203	4300	6503	SO:0001627	intron_variant	5141	exon1			CCTTGGCTGGTGG		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.784-1520C>T	19.37:g.10563985C>T			31	0	0		48	0.06	3	NM_006202	0		0	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	CCDS45961.1																																																																																					0.647	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000451244.1				T	10563985	C	T	10563985	1	4	39	0	1	0	0	0	0	0	0	0	11656	796	28	2		2	PDE4A	19	10563985	Intron	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	9327912	10563985	48564998	62	2793											
ISYNA1	51477	mdanderson.org	37	chr19	18548463	18548463	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcgattggccagcaccgcGgcggtgagtgtggagccgtt	6	8	17	10	5	0	1	0	1	0	0	1	3	0	2	3	4	2	2	3	4	0	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:18548463G>T	ENST00000338128.8	-	3	445	c.228C>A	c.(226-228)gcC>gcA	p.A76A	ISYNA1_ENST00000457269.4_Intron|ISYNA1_ENST00000545187.1_Intron|ISYNA1_ENST00000317018.6_5'UTR|ISYNA1_ENST00000578963.1_5'Flank	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	76					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						CCAGCACCGCGGCGGTGAGTG	0.721																																					p.A76A													.	.			0			c.C228A												9	11	10					19																	18548463		2082	4124	6206	SO:0001819	synonymous_variant	51477	exon3			CACCGCGGCGGTG		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.228C>A	19.37:g.18548463G>T			14	0	0		15	0.13	2	NM_016368	72	0	0	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	CCDS12379.1																																																																																					0.721	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444469.2		NM_016368		T	18548463	G	T	18548463	2	4	39	1	0	0	0	0	0	0	0	1	7882	1103	39	1		1	ISYNA1	19	18548463	Silent	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	7984478	18548463	40580520	63	2794											
CILP2	148113	broad.mit.edu	37	chr19	19656233	19656233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgctcccacaacgcaggggGcagccacccacgcacccgcg	8	1	11	21	5	0	0	0	0	0	0	1	0	1	0	5	2	2	4	5	2	1	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:19656233G>A	ENST00000291495.5	+	8	2964	c.2879G>A	c.(2878-2880)gGc>gAc	p.G960D	CILP2_ENST00000586018.1_Missense_Mutation_p.G966D	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	960						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AACGCAGGGGGCAGCCACCCA	0.687																																					p.G960D													CILP2,NS,neuroblastoma,-1,1	CILP2	84	1	0			c.G2879A												16	18	17					19																	19656233		2202	4294	6496	SO:0001583	missense	148113	exon8			CAGGGGGCAGCCA	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2879G>A	19.37:g.19656233G>A	ENSP00000291495:p.Gly960Asp		48	0	0		57	0.05	3	NM_153221	8	0	0	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328615	0.60743	.	.	ENSG00000160161	ENST00000291495	T	0.09350	2.99	5.79	5.79	0.91817	.	0.052559	0.85682	D	0.000000	T	0.33614	0.0869	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00907	-1.1519	10	0.87932	D	0	-39.6612	17.571	0.87934	0.0:0.0:1.0:0.0	.	960;960	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	D	960	ENSP00000291495:G960D	ENSP00000291495:G960D	G	+	2	0	CILP2	19517233	1.000000	0.71417	0.995000	0.50966	0.020000	0.10135	6.486000	0.73629	2.757000	0.94681	0.555000	0.69702	GGC			0.687	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459738.3		NM_153221		A	19656233	G	A	19656233	3	1	39	1	0	0	0	0	1	0	0	0	3432	1203	42	2	2909	2	CILP2	19	19656233	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	1107770	19656233	39472750	64	2795											
HPN	3249	mdanderson.org	37	chr19	35551260	35551260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcccacagactgtggccGcaggaagctgcccgtggacc	7	7	13	14	2	0	1	0	0	0	1	1	3	1	3	4	3	2	2	4	3	1	1	rs145117053		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:35551260G>A	ENST00000262626.2	+	8	1289	c.464G>A	c.(463-465)cGc>cAc	p.R155H	HPN_ENST00000597419.1_Intron|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.R155H	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	155					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GACTGTGGCCGCAGGAAGCTG	0.682													G|||	1	0.000199681	0	0	5008	,	,		16029	0		0.001	False		,,,				2504	0				p.R155H													.	.			0			c.G464A							G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	32	36	35		464,464	2.5	0.9	19	dbSNP_134	35	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense	HPN	NM_002151.2,NM_182983.2	29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	155/418,155/418	35551260	1,13001	2203	4298	6501	SO:0001583	missense	3249	exon8			GTGGCCGCAGGAA		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.464G>A	19.37:g.35551260G>A	ENSP00000262626:p.Arg155His		38	0	0		32	0.09	3	NM_182983	2	0	0	B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	CCDS32993.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.30	1.897299	0.33535	0.0	1.16E-4	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	T;T	0.60797	0.16;0.16	4.68	2.54	0.30619	Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);Hepsin, SRCR (1);	0.186005	0.44688	N	0.000431	T	0.37839	0.1018	N	0.24115	0.695	0.80722	D	1	B;B;B	0.16396	0.017;0.016;0.009	B;B;B	0.11329	0.005;0.006;0.006	T	0.08889	-1.0700	10	0.22109	T	0.4	.	8.4075	0.32622	0.1932:0.0:0.8068:0.0	.	127;155;155	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	H	155;155;127	ENSP00000262626:R155H;ENSP00000376060:R155H	ENSP00000262626:R155H	R	+	2	0	HPN	40243100	1.000000	0.71417	0.946000	0.38457	0.962000	0.63368	2.993000	0.49425	0.577000	0.29470	0.555000	0.69702	CGC	0		0.682	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461573.1		NM_002151		A	35551260	G	A	35551260	3	1	39	1	0	0	0	0	1	0	0	0	7351	1087	38	1	490	1	HPN	19	35551260	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	15895027	35551260	23577723	65	2796											
MLL4	9757	broad.mit.edu	37	chr19	36223857	36223857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctagagaggagtcacTccccccggcgcctcccctgg	5	6	12	18	2	1	1	1	0	0	1	3	3	3	2	7	4	0	0	7	4	1	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:36223857T>C	ENST00000222270.7	+	28	6407	c.6407T>C	c.(6406-6408)cTc>cCc	p.L2136P	KMT2B_ENST00000420124.1_Missense_Mutation_p.L2136P|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2136					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)										GAGGAGTCACTCCCCCCGGCG	0.662																																					p.L2136P													.	MLL4	229		0			c.T6407C												10	12	11					19																	36223857		1889	4108	5997	SO:0001583	missense	0	exon28			AGTCACTCCCCCC	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.6407T>C	19.37:g.36223857T>C	ENSP00000222270:p.Leu2136Pro		189	0.0052910053	1		216	0.03	6	NM_014727	17	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.463686	0.01062	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84873	-1.91;-1.91	3.99	2.97	0.34412	.	0.216149	0.23420	N	0.048375	T	0.72382	0.3453	N	0.25647	0.755	0.24027	N	0.996125	B	0.12013	0.005	B	0.10450	0.005	T	0.58532	-0.7620	10	0.34782	T	0.22	.	6.2402	0.20787	0.0:0.2:0.0:0.8	.	2136	Q9UMN6	MLL4_HUMAN	P	2136	ENSP00000222270:L2136P;ENSP00000398837:L2136P	ENSP00000222270:L2136P	L	+	2	0	AD000671.1	40915697	0.001000	0.12720	0.077000	0.20336	0.289000	0.27227	0.821000	0.27338	1.797000	0.52628	0.374000	0.22700	CTC			0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_014727		C	36223857	T	C	36223857	3	2	39	1	0	0	0	0	1	0	0	0	9639	1551	54	4	6517	4	MLL4	19	36223857	Missense_Mutation	SNP	T	TCGA-2G-AAGV-01A-11D-A42Y-10	672597	36223857	22905126	66	2797											
SFRS16	11129	mdanderson.org	37	chr19	45572358	45572358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcggcacaagaaaagatGatccagcaggagcatgagcg	16	3	14	8	2	0	4	0	2	0	2	1	5	1	5	1	3	3	3	1	3	4	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:45572358G>T	ENST00000221455.3	+	17	1901	c.1803G>T	c.(1801-1803)atG>atT	p.M601I	CLASRP_ENST00000391953.4_Missense_Mutation_p.M539I|CLASRP_ENST00000544944.2_Missense_Mutation_p.M582I	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	601	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AAGAAAAGATGATCCAGCAGG	0.562																																					p.M601I													.	.			0			c.G1803T												119	133	128					19																	45572358		2203	4300	6503	SO:0001583	missense	11129	exon17			AAAGATGATCCAG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1803G>T	19.37:g.45572358G>T	ENSP00000221455:p.Met601Ile		61	0	0		71	0.06	4	NM_007056	134	0	0	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811874	0.32053	.	.	ENSG00000104859	ENST00000221455;ENST00000391953;ENST00000544944	T;T;T	0.39997	2.02;1.05;1.69	5.02	5.02	0.67125	.	0.000000	0.41605	U	0.000849	T	0.12561	0.0305	N	0.00436	-1.5	0.33143	D	0.54461	B;B;B	0.12630	0.006;0.003;0.001	B;B;B	0.10450	0.005;0.002;0.001	T	0.15292	-1.0442	10	0.07482	T	0.82	-20.2447	13.7092	0.62659	0.0:0.0:1.0:0.0	.	539;582;601	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	I	601;539;582	ENSP00000221455:M601I;ENSP00000375815:M539I;ENSP00000438702:M582I	ENSP00000221455:M601I	M	+	3	0	CLASRP	50264198	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.424000	0.52764	2.626000	0.88956	0.555000	0.69702	ATG			0.562	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316749.1		NM_007056		T	45572358	G	T	45572358	3	4	39	1	0	0	0	0	1	0	0	0	14195	1290	45	3	1865	3	SFRS16	19	45572358	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	9348501	45572358	13556625	67	2798											
TBC1D20	128637	broad.mit.edu	37	chr20	425725	425725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcaatgaccgccggacGtccagcaacacttgttggta	9	7	11	14	5	0	1	0	1	0	0	1	2	1	2	4	2	2	4	4	2	3	3			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr20:425725G>C	ENST00000354200.4	-	3	453	c.306C>G	c.(304-306)gaC>gaG	p.D102E		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	102	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				ACCGCCGGACGTCCAGCAACA	0.532																																					p.D102E													.	TBC1D20	34		0			c.C306G												94	71	79					20																	425725		2203	4300	6503	SO:0001583	missense	128637	exon3			CCGGACGTCCAGC	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"chromosome 20 open reading frame 140"	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.306C>G	20.37:g.425725G>C	ENSP00000346139:p.Asp102Glu		145	0	0		140	0.02	3	NM_144628	40	0.05	2	A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777148	0.49786	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.59224	0.28	5.53	-9.42	0.00610	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.78799	0.4340	H	0.94385	3.53	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.87265	0.2282	10	0.87932	D	0	-9.787	20.4856	0.99199	0.7814:0.0:0.2186:0.0	.	102	Q96BZ9	TBC20_HUMAN	E	102;127	ENSP00000346139:D102E	ENSP00000246077:D127E	D	-	3	2	TBC1D20	373725	0.003000	0.15002	0.298000	0.25002	0.285000	0.27093	-1.125000	0.03257	-1.942000	0.01040	-0.793000	0.03317	GAC			0.532	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251397.2	rescued with RNA-seq	NM_144628		C	425725	G	C	425725	3	2	39	1	0	0	0	0	1	0	0	0	15632	1136	40	5	929	5	TBC1D20	20	425725	Missense_Mutation	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		425725	62599795	68	2799											
DIDO1	11083	mdanderson.org	37	chr20	61513425	61513425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagctgccgtggaggctgCcgctgctgttgtggctgctg	3	10	18	10	2	0	0	0	0	0	0	0	2	0	2	2	4	5	7	2	4	1	1			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr20:61513425C>T	ENST00000266070.4	-	16	4208	c.3883G>A	c.(3883-3885)Gca>Aca	p.A1295T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1295T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1295					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)					GTGGAGGCTGCCGCTGCTGTT	0.592																																					p.A1295T	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												.	.			0			c.G3883A												67	74	72					20																	61513425		2202	4294	6496	SO:0001583	missense	11083	exon16			AGGCTGCCGCTGC	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.3883G>A	20.37:g.61513425C>T	ENSP00000266070:p.Ala1295Thr		52	0	0		51	0.06	3	NM_033081	10	0	0	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289058	0.10513	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08102	3.13;3.13	5.01	-2.01	0.07410	.	2.227450	0.02711	N	0.112841	T	0.03959	0.0111	N	0.12471	0.22	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.32613	-0.9900	10	0.09338	T	0.73	-0.7034	2.6511	0.05000	0.1152:0.4591:0.2242:0.2015	.	1295	Q9BTC0	DIDO1_HUMAN	T	1295	ENSP00000266070:A1295T;ENSP00000378752:A1295T	ENSP00000266070:A1295T	A	-	1	0	DIDO1	60983870	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.115000	0.10741	-0.241000	0.09681	0.563000	0.77884	GCA			0.592	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080091.2		NM_080796		T	61513425	C	T	61513425	3	4	39	1	0	0	0	0	1	0	0	0	4527	739	26	2	2843	2	DIDO1	20	61513425	Missense_Mutation	SNP	C	TCGA-2G-AAGV-01A-11D-A42Y-10	61087700	61513425	1512095	69	2800											
GMEB2	26205	mdanderson.org	37	chr20	62221508	62221508	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtgctcctcaggcccGggggcagcccctgcgggcac	3	5	16	17	3	1	0	1	0	0	0	2	0	2	0	5	4	3	3	5	4	0	0			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr20:62221508G>C	ENST00000266068.1	-	9	2005	c.1527C>G	c.(1525-1527)ccC>ccG	p.P509P	GMEB2_ENST00000370077.1_Silent_p.P509P|GMEB2_ENST00000370069.1_Silent_p.P458P			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	509					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CCTCAGGCCCGGGGGCAGCCC	0.697																																					p.P509P													.	.			0			c.C1527G												20	22	21					20																	62221508		2200	4290	6490	SO:0001819	synonymous_variant	26205	exon10			AGGCCCGGGGGCA	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1527C>G	20.37:g.62221508G>C			31	0	0		52	0.06	3	NM_012384	19	0	0	E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Silent	SNP	ENST00000266068.1	37	CCDS13528.1																																																																																					0.697	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080166.1		NM_012384		C	62221508	G	C	62221508	2	2	39	1	0	0	0	0	0	0	0	1	6502	1103	39	5		5	GMEB2	20	62221508	Silent	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10	708083	62221508	804012	70	2801											
PLXNB2	23654	mdanderson.org	37	chr22	50722032	50722032	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagggccgtccactcaccGggtggacacggagtaacgtt	9	6	13	13	4	1	0	1	0	0	0	2	2	2	2	4	4	1	2	4	4	1	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr22:50722032G>A	ENST00000449103.1	-	15	2709	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W	PLXNB2_ENST00000359337.4_Splice_Site_p.R857W|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	857	IPT/TIG 1.				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)		TCCACTCACCGGGTGGACACG	0.662																																					p.R857W													.	.			0			c.C2569T												24	28	27					22																	50722032		1944	4124	6068	SO:0001630	splice_region_variant	23654	exon15			CTCACCGGGTGGA		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.2570+1C>T	22.37:g.50722032G>A			51	0	0		38	0.08	3	NM_012401	258	0	0	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086841	0.55861	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.77098	-1.07;-1.07	4.26	3.18	0.36537	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000226	D	0.86564	0.5963	M	0.84433	2.695	0.43734	D	0.996227	D	0.89917	1.0	D	0.74348	0.983	D	0.87271	0.2286	10	0.87932	D	0	.	8.7158	0.34410	0.0:0.0:0.6568:0.3432	.	857	O15031	PLXB2_HUMAN	W	857	ENSP00000409171:R857W;ENSP00000352288:R857W	ENSP00000352288:R857W	R	-	1	2	PLXNB2	49064159	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	3.148000	0.50647	2.197000	0.70478	0.491000	0.48974	CGG			0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316874.3		NM_012401	Missense_Mutation	A	50722032	G	A	50722032	5	1	39	1	0	0	0	0	0	0	1	0	12141	1130	39	1	3039	1	PLXNB2	22	50722032	Splice_Site	SNP	G	TCGA-2G-AAGV-01A-11D-A42Y-10		50722032	582534	71	2802											
UPRT	139596	broad.mit.edu	37	chrX	74519638	74519638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaagatcctgattcagAgtgatgaggagacacaaaga	16	8	12	5	0	1	7	1	3	0	4	2	9	2	8	1	2	0	0	1	2	2	2			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chrX:74519638A>G	ENST00000373383.4	+	5	798	c.631A>G	c.(631-633)Agt>Ggt	p.S211G	UPRT_ENST00000373379.1_Missense_Mutation_p.S211G|UPRT_ENST00000530743.1_Missense_Mutation_p.S75G	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	211					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CCTGATTCAGAGTGATGAGGA	0.403																																					p.S211G													.	UPRT	46		0			c.A631G												120	106	111					X																	74519638		2203	4300	6503	SO:0001583	missense	139596	exon5			ATTCAGAGTGATG	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.631A>G	X.37:g.74519638A>G	ENSP00000362481:p.Ser211Gly		74	0	0		85	0.04	3	NM_145052	9	0	0	Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747737	0.89663	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.91894	-2.93;-2.93;-2.93	5.69	5.69	0.88448	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95127	0.8421	M	0.80847	2.515	0.80722	D	1	D;D	0.55172	0.97;0.97	P;P	0.58454	0.839;0.839	D	0.95294	0.8397	10	0.59425	D	0.04	-26.7363	13.9801	0.64299	1.0:0.0:0.0:0.0	.	211;211	A8KAF9;Q96BW1	.;UPP_HUMAN	G	211;211;75	ENSP00000362481:S211G;ENSP00000362477:S211G;ENSP00000434037:S75G	ENSP00000362477:S211G	S	+	1	0	UPRT	74436363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.954000	0.93051	1.899000	0.54978	0.441000	0.28932	AGT			0.403	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057278.1		NM_145052		G	74519638	A	G	74519638	3	3	39	1	0	0	0	0	1	0	0	0	17038	304	11	4	649	4	UPRT	23	74519638	Missense_Mutation	SNP	A	TCGA-2G-AAGV-01A-11D-A42Y-10		74519638	80750922	72	2803											
TAS1R3	83756	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	1267021	1267023	+	In_Frame_Del	DEL	CTC	CTC	-																															gttctgtgtggccccaggttCtcctcaaacggcctgctctg																										TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	CTC	CTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr1:1267021_1267023delCTC	ENST00000339381.5	+	2	227_229	c.195_197delCTC	c.(193-198)ttctcc>ttc	p.S67del		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	67					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)		GCCCCAGGTTCTCCTCAAACGGC	0.655																																					p.65_66del													.	TAS1R3	39		0			c.194_196del																																									SO:0001651	inframe_deletion	83756	exon2			CAGGTTCTCCTCA	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.195_197delCTC	1.37:g.1267024_1267026delCTC	ENSP00000344411:p.Ser67del		54	0	0		28	0.43	12	NM_152228	3	0	0	Q5TA49|Q8NGW9	In_Frame_Del	DEL	ENST00000339381.5	37	CCDS30556.1																																																																																					0.655	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008493.1				-	1267023	CTC	-	1267021	7	5	40	1	0	1	0	1	0	0	0	0	15587	912	32	0	201	0	TAS1R3	1	1267021	In_Frame_Del	DEL	CTC	TCGA-2G-AAGW-01A-11D-A42Y-10		1267021	247983600	1	2804											
GABRD	2563	broad.mit.edu	37	chr1	1961133	1961133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtggagtacgcctttGctcatttcaacgccgactac	7	11	9	14	3	2	0	2	0	0	0	2	2	2	1	3	2	4	2	3	2	3	4			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr1:1961133G>T	ENST00000378585.4	+	8	1074	c.991G>T	c.(991-993)Gct>Tct	p.A331S		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	331					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTACGCCTTTGCTCATTTCAA	0.612																																					p.A331S													.	GABRD	49		0			c.G991T												117	104	108					1																	1961133		2200	4300	6500	SO:0001583	missense	2563	exon8			GCCTTTGCTCATT	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.991G>T	1.37:g.1961133G>T	ENSP00000367848:p.Ala331Ser		195	0	0		105	0.03	3	NM_000815	6	0	0	Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076880	0.55753	.	.	ENSG00000187730	ENST00000378585	D	0.84223	-1.82	4.09	3.17	0.36434	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	L	0.58428	1.81	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.90551	0.4509	10	0.87932	D	0	-11.5289	13.2832	0.60228	0.0:0.1602:0.8398:0.0	.	331	O14764	GBRD_HUMAN	S	331	ENSP00000367848:A331S	ENSP00000367848:A331S	A	+	1	0	GABRD	1950993	1.000000	0.71417	0.949000	0.38748	0.134000	0.20937	9.302000	0.96175	1.067000	0.40740	0.561000	0.74099	GCT			0.612	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098493.1		NM_000815		T	1961133	G	T	1961133	3	4	40	1	0	0	0	0	1	0	0	0	6182	1319	46	2	1021	2	GABRD	1	1961133	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	694112	1961133	247289488	2	2805											
AGTRAP	57085	mdanderson.org	37	chr1	11807591	11807591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcgggactccatcgacGccataagcatggtgagccag	10	6	12	13	3	1	1	1	1	0	0	3	3	2	2	3	2	3	1	3	2	1	1	rs201093684		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr1:11807591G>T	ENST00000314340.5	+	3	211	c.157G>T	c.(157-159)Gcc>Tcc	p.A53S	AGTRAP_ENST00000376637.3_Missense_Mutation_p.R41L|AGTRAP_ENST00000510878.1_Intron|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000376629.4_Missense_Mutation_p.A53S|AGTRAP_ENST00000376627.2_Missense_Mutation_p.R97L|AGTRAP_ENST00000400895.2_Missense_Mutation_p.R85L|AGTRAP_ENST00000452018.2_Missense_Mutation_p.R85L	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	53					regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	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;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCATCGACGCCATAAGCAT	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		18442	0		0	False		,,,				2504	0				p.R85L													.	.			0			c.G254T												90	89	89					1																	11807591		2203	4300	6503	SO:0001583	missense	57085	exon4			ATCGACGCCATAA	AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.157G>T	1.37:g.11807591G>T	ENSP00000319713:p.Ala53Ser		91	0	0		40	0.08	3	NM_001040196	244	0	0	A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Missense_Mutation	SNP	ENST00000314340.5	37	CCDS136.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	15.92|15.92	2.975281|2.975281	0.53720|0.53720	.|.	.|.	ENSG00000177674|ENSG00000177674	ENST00000376629;ENST00000314340|ENST00000376637;ENST00000400895;ENST00000376627;ENST00000452018	T;T|T;T;T;T	0.60797|0.23754	0.16;0.16|1.89;1.89;1.89;1.89	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.37073|0.37073	0.0990|0.0990	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|P;D;D	0.76494|0.57571	0.999;0.999|0.946;0.98;0.98	D;D|P;P;P	0.78314|0.48795	0.977;0.991|0.451;0.59;0.59	T|T	0.28902|0.28902	-1.0029|-1.0029	9|8	0.54805|0.87932	T|D	0.06|0	-0.0368|-0.0368	16.1617|16.1617	0.81721|0.81721	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	53;53|41;85;85	Q6RW13-2;Q6RW13|Q6RW13-4;Q6RW13-5;Q6RW13-3	.;ATRAP_HUMAN|.;.;.	S|L	53|41;85;97;85	ENSP00000365816:A53S;ENSP00000319713:A53S|ENSP00000365824:R41L;ENSP00000383688:R85L;ENSP00000365814:R97L;ENSP00000408505:R85L	ENSP00000319713:A53S|ENSP00000365814:R97L	A|R	+|+	1|2	0|0	AGTRAP|AGTRAP	11730178|11730178	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.242000|0.242000	0.25591|0.25591	8.575000|8.575000	0.90766|0.90766	2.420000|2.420000	0.82092|0.82092	0.561000|0.561000	0.74099|0.74099	GCC|CGC	0		0.637	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006335.1		NM_020350		T	11807591	G	T	11807591	3	4	40	1	0	0	0	0	1	0	0	0	403	1087	38	1	268	1	AGTRAP	1	11807591	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	9846458	11807591	237443030	3	2806											
LDLRAD2	401944	mdanderson.org	37	chr1	22142477	22142477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagaatggcaggtgcAtcccctcaagcctcgtgtgt	7	9	12	13	1	1	1	1	0	0	1	3	1	2	1	4	2	3	3	4	2	2	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr1:22142477A>G	ENST00000344642.2	+	3	740	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.I185V	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	185	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TGGCAGGTGCATCCCCTCAAG	0.627																																					p.I185V													.	.			0			c.A553G												81	73	76					1																	22142477		2203	4300	6503	SO:0001583	missense	401944	exon3			AGGTGCATCCCCT	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 2"				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.553A>G	1.37:g.22142477A>G	ENSP00000340988:p.Ile185Val		82	0	0		43	0.07	3	NM_001013693	1	0	0	B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381039	0.42207	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	D;D	0.98012	-4.66;-4.66	5.07	2.72	0.32119	.	0.215858	0.27631	N	0.018512	D	0.93943	0.8061	L	0.52573	1.65	0.30632	N	0.757438	P	0.38129	0.619	B	0.29716	0.106	D	0.89783	0.3962	10	0.37606	T	0.19	-12.9114	7.5299	0.27677	0.8131:0.0:0.1869:0.0	.	185	Q5SZI1	LRAD2_HUMAN	V	185	ENSP00000340988:I185V;ENSP00000444097:I185V	ENSP00000340988:I185V	I	+	1	0	LDLRAD2	22015064	1.000000	0.71417	0.945000	0.38365	0.894000	0.52154	3.513000	0.53414	0.282000	0.22254	0.408000	0.27601	ATC			0.627	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007601.1		NM_001013693		G	22142477	A	G	22142477	3	3	40	1	0	0	0	0	1	0	0	0	8721	217	8	4	563	4	LDLRAD2	1	22142477	Missense_Mutation	SNP	A	TCGA-2G-AAGW-01A-11D-A42Y-10	10334886	22142477	227108144	4	2807											
OVGP1	5016	bcgsc.ca	37	chr1	111957533	111957533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcacaggggtcacagaCtgatgacccacaggggtcag	11	6	13	11	0	3	4	3	3	0	1	3	4	3	4	1	4	0	0	1	4	0	0	rs112145355		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					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)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q													.	OVGP1	177		0			c.G1590A												59	57	58					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	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.1590G>A	1.37:g.111957533C>T			156	0	0		101	0.03	3	NM_002557	11	0	0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																					0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032461.1		NM_002557		T	111957533	C	T	111957533	2	4	40	1	0	0	0	0	0	0	0	1	11342	564	20	3		3	OVGP1	1	111957533	Silent	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	89815056	111957533	137293088	5	2808											
F5	2153	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	169483622	169483622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttttaggaatgacacGgataaacctggaaatgattg	14	11	10	6	1	0	2	0	2	0	0	0	5	0	5	2	3	1	1	2	3	5	4			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr1:169483622G>A	ENST00000367797.3	-	25	6805	c.6604C>T	c.(6604-6606)Cgt>Tgt	p.R2202C	F5_ENST00000367796.3_Missense_Mutation_p.R2207C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2202	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGAATGACACGGATAAACCTG	0.368																																					p.R2202C													F5,colon,carcinoma,+1,1	F5	1	1	0			c.C6604T												83	87	86					1																	169483622		2203	4300	6503	SO:0001583	missense	2153	exon25			TGACACGGATAAA	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6604C>T	1.37:g.169483622G>A	ENSP00000356771:p.Arg2202Cys		124	0	0		124	0.06	7	NM_000130	0		0	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796617	0.70567	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.90324	-2.65;-2.65	5.09	5.09	0.68999	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.96204	0.8762	H	0.95611	3.695	0.49299	D	0.999770	D	0.89917	1.0	D	0.97110	1.0	D	0.97297	0.9928	9	0.87932	D	0	-11.4568	13.0971	0.59200	0.0:0.0:0.8393:0.1606	.	2202	P12259	FA5_HUMAN	C	2202;2207	ENSP00000356771:R2202C;ENSP00000356770:R2207C	ENSP00000356770:R2207C	R	-	1	0	F5	167750246	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.953000	0.56699	2.356000	0.79943	0.591000	0.81541	CGT			0.368	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000083712.1		NM_000130		A	169483622	G	A	169483622	3	1	40	1	0	0	0	0	1	0	0	0	5355	1116	39	1	74	1	F5	1	169483622	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	57526089	169483622	79766999	6	2809											
GPR52	9293	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	174417851	174417851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgtcttggctcaccagtgCctattttactggctttattg	6	16	8	11	1	2	0	1	0	1	0	2	0	2	0	2	2	2	2	2	2	3	7			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr1:174417851C>T	ENST00000367685.2	+	1	640	c.602C>T	c.(601-603)gCc>gTc	p.A201V	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	201					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CTCACCAGTGCCTATTTTACT	0.438																																					p.A201V	Ovarian(92;924 1390 1930 16467 40583)												.	GPR52	40		0			c.C602T												325	284	298					1																	174417851		2203	4300	6503	SO:0001583	missense	9293	exon1			CCAGTGCCTATTT	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.602C>T	1.37:g.174417851C>T	ENSP00000356658:p.Ala201Val		139	0.0071942446	1		136	0.48	65	NM_005684	0		0	O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606503	0.46527	.	.	ENSG00000203737	ENST00000367685	T	0.36878	1.23	5.9	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.24928	0.0605	N	0.11313	0.125	0.41313	D	0.98712	B	0.24092	0.097	B	0.28011	0.085	T	0.08330	-1.0727	10	0.56958	D	0.05	-8.4223	15.3368	0.74263	0.0:0.9332:0.0:0.0668	.	201	Q9Y2T5	GPR52_HUMAN	V	201	ENSP00000356658:A201V	ENSP00000356658:A201V	A	+	2	0	GPR52	172684474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.720000	0.68470	1.500000	0.48636	0.650000	0.86243	GCC			0.438	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084511.1		NM_005684		T	174417851	C	T	174417851	3	4	40	1	0	0	0	0	1	0	0	0	6712	739	26	2	604	2	GPR52	1	174417851	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	4934229	174417851	74832770	7	2810											
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	21239410	21239410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtagattcatcattaactCtgaggattgttccgaggtca	11	13	9	8	1	4	2	3	1	1	1	5	4	5	3	1	2	1	2	1	2	2	5			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr2:21239410C>G	ENST00000233242.1	-	21	3360	c.3233G>C	c.(3232-3234)aGa>aCa	p.R1078T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1078					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)					ATCATTAACTCTGAGGATTGT	0.448																																					p.R1078T													.	.			0			c.G3233C												131	118	122					2																	21239410		2203	4300	6503	SO:0001583	missense	338	exon21			TTAACTCTGAGGA	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.3233G>C	2.37:g.21239410C>G	ENSP00000233242:p.Arg1078Thr		235	0	0		162	0.14	23	NM_000384	0		0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	9.169	1.020657	0.19433	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00753	5.74	5.03	4.15	0.48705	.	0.092240	0.44483	D	0.000456	T	0.01454	0.0047	M	0.64997	1.995	0.80722	D	1	P	0.50272	0.933	P	0.44860	0.462	T	0.66048	-0.6020	10	0.59425	D	0.04	.	10.0422	0.42164	0.0:0.8455:0.0:0.1545	.	1078	P04114	APOB_HUMAN	T	1078	ENSP00000233242:R1078T	ENSP00000233242:R1078T	R	-	2	0	APOB	21092915	0.997000	0.39634	0.998000	0.56505	0.016000	0.09150	1.294000	0.33365	1.272000	0.44329	0.561000	0.74099	AGA			0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1				G	21239410	C	G	21239410	3	3	40	1	0	0	0	0	1	0	0	0	785	913	32	5	10494	5	APOB	2	21239410	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10		21239410	221959963	8	2811											
ZNF513	130557	mdanderson.org	37	chr2	27601026	27601026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctcctcgcatgcagcGcccacacatggcagctccca	8	6	8	19	2	1	0	0	0	1	0	4	0	2	0	4	1	4	4	4	1	0	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr2:27601026G>T	ENST00000323703.6	-	4	1210	c.1012C>A	c.(1012-1014)Cgc>Agc	p.R338S	ZNF513_ENST00000407879.1_Missense_Mutation_p.R276S|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	338					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCATGCAGCGCCCACACATG	0.647																																					p.R338S													.	.			0			c.C1012A												38	45	42					2																	27601026		2203	4300	6503	SO:0001583	missense	130557	exon4			TGCAGCGCCCACA	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1012C>A	2.37:g.27601026G>T	ENSP00000318373:p.Arg338Ser		32	0	0		43	0.07	3	NM_144631	88	0	0	A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192692	0.38707	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.06608	3.32;3.28	4.99	4.99	0.66335	.	0.000000	0.52532	D	0.000068	T	0.06554	0.0168	L	0.34521	1.04	0.37607	D	0.920802	P	0.52842	0.956	B	0.42798	0.398	T	0.16958	-1.0385	10	0.62326	D	0.03	-16.6217	10.5762	0.45229	0.0882:0.0:0.9118:0.0	.	338	Q8N8E2	ZN513_HUMAN	S	338;276	ENSP00000318373:R338S;ENSP00000384874:R276S	ENSP00000318373:R338S	R	-	1	0	ZNF513	27454530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.390000	0.59646	2.591000	0.87537	0.561000	0.74099	CGC			0.647	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215026.2		NM_144631		T	27601026	G	T	27601026	3	4	40	1	0	0	0	0	1	0	0	0	17981	1087	38	1	617	1	ZNF513	2	27601026	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	6361616	27601026	215598347	9	2812											
SPDYA	245711	broad.mit.edu	37	chr2	29063247	29063247	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatccagtcatacagcaggGgtgacagaaaaacattctca	15	9	8	9	0	2	2	2	1	1	1	4	2	3	2	1	2	3	1	1	2	4	3	rs142885879		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr2:29063247G>T	ENST00000334056.5	+	7	951	c.762G>T	c.(760-762)ggG>ggT	p.G254G	SPDYA_ENST00000379579.4_Silent_p.G254G|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)					ATACAGCAGGGGTGACAGAAA	0.393																																					p.G254G													.	SPDYA	41		0			c.G762T												89	87	88					2																	29063247		2203	4300	6503	SO:0001819	synonymous_variant	245711	exon6			AGCAGGGGTGACA	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.762G>T	2.37:g.29063247G>T			289	0	0		268	0.02	5	NM_001142634	0		0		Silent	SNP	ENST00000334056.5	37	CCDS1767.2																																																																																					0.393	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157171.1		NM_182756		T	29063247	G	T	29063247	2	4	40	1	0	0	0	0	0	0	0	1	15050	1219	43	3		3	SPDYA	2	29063247	Silent	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	1462221	29063247	214136126	10	2813											
CAPN13	92291	ucsc.edu;bcgsc.ca	37	chr2	30955408	30955408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgcagcagctcacggCtgatgaagatccctctgagg	10	7	12	12	1	2	5	1	3	1	2	3	5	3	5	2	2	3	4	2	2	1	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr2:30955408C>T	ENST00000295055.8	-	20	1999	c.1823G>A	c.(1822-1824)aGc>aAc	p.S608N	CAPN13_ENST00000534090.2_Missense_Mutation_p.S608N	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	608					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)					CAGCTCACGGCTGATGAAGAT	0.612																																					p.S608N													.	CAPN13	70		0			c.G1823A												26	29	28					2																	30955408		2066	4207	6273	SO:0001583	missense	92291	exon20			TCACGGCTGATGA		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.1823G>A	2.37:g.30955408C>T	ENSP00000295055:p.Ser608Asn		33	0	0		39	0.1	4	NM_144575	0		0	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	c	3.450	-0.112223	0.06881	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.34072	1.38;1.38	5.61	-0.105	0.13601	EF-hand-like domain (1);	0.207700	0.56097	D	0.000021	T	0.17408	0.0418	L	0.31065	0.9	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.32561	-0.9902	10	0.02654	T	1	.	6.555	0.22456	0.0:0.4963:0.2599:0.2438	.	608	Q6MZZ7	CAN13_HUMAN	N	608	ENSP00000295055:S608N;ENSP00000431298:S608N	ENSP00000295055:S608N	S	-	2	0	CAPN13	30808912	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.084000	0.11268	0.034000	0.15491	-0.141000	0.14075	AGC			0.612	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000325101.2		NM_144575		T	30955408	C	T	30955408	3	4	40	1	0	0	0	0	1	0	0	0	2628	797	28	2	198	2	CAPN13	2	30955408	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	1892161	30955408	212243965	11	2814											
QPCT	25797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	37599594	37599594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgtgattcaggatgacCatattccatttttaagaaga	13	13	10	5	0	1	4	1	2	0	2	2	6	2	5	2	2	0	0	2	2	3	6			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr2:37599594C>A	ENST00000338415.3	+	6	1077	c.919C>A	c.(919-921)Cat>Aat	p.H307N	QPCT_ENST00000537448.1_Missense_Mutation_p.H258N	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	307					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TCAGGATGACCATATTCCATT	0.428																																					p.H307N													.	.			0			c.C919A												155	152	153					2																	37599594		2203	4300	6503	SO:0001583	missense	25797	exon6			GATGACCATATTC	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.919C>A	2.37:g.37599594C>A	ENSP00000344829:p.His307Asn		136	0	0		125	0.14	18	NM_012413	42	0.17	7	Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198530	0.79015	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.3	5.3	0.74995	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	H	0.96943	3.91	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.71184	0.952;0.972	D	0.85695	0.1309	10	0.87932	D	0	4.0526	12.3244	0.55003	0.0:0.9211:0.0:0.0789	.	258;307	Q16769-2;Q16769	.;QPCT_HUMAN	N	307;258;258;72	ENSP00000344829:H307N;ENSP00000385391:H258N;ENSP00000441606:H258N;ENSP00000389227:H72N	ENSP00000344829:H307N	H	+	1	0	QPCT	37453098	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.284000	0.65627	2.626000	0.88956	0.563000	0.77884	CAT			0.428	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000218572.2				A	37599594	C	A	37599594	3	1	40	1	0	0	0	0	1	0	0	0	12897	594	21	3	941	3	QPCT	2	37599594	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	6644186	37599594	205599779	12	2815											
ARID5A	10865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	97217882	97217882	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttcccggcccacttcctGgccaccgcaggcccctcgcc	3	6	9	23	3	0	0	0	0	0	0	3	0	2	0	9	3	0	1	9	3	0	2			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr2:97217882G>T	ENST00000357485.3	+	7	1695	c.1617G>T	c.(1615-1617)ctG>ctT	p.L539L	ARID5A_ENST00000454558.2_Silent_p.L471L	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	539					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCCACTTCCTGGCCACCGCAG	0.692																																					p.L539L													.	.			0			c.G1617T												67	75	72					2																	97217882		2203	4299	6502	SO:0001819	synonymous_variant	10865	exon7			CTTCCTGGCCACC	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1617G>T	2.37:g.97217882G>T			69	0	0		77	0.21	16	NM_212481	24	0.13	3	Q6NX37	Silent	SNP	ENST00000357485.3	37	CCDS33251.1																																																																																					0.692	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338888.2		NM_212481		T	97217882	G	T	97217882	2	4	40	1	0	0	0	0	0	0	0	1	921	1335	47	3		3	ARID5A	2	97217882	Silent	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	59618288	97217882	145981491	13	2816											
ZEB2	9839	mdanderson.org	37	chr2	145147409	145147409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgcttcccgctcctccGcctcccgcttgcagtaggaa	4	8	9	20	5	0	0	0	0	0	0	4	1	4	1	7	1	1	5	7	1	2	3			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr2:145147409G>T	ENST00000558170.2	-	10	4438	c.3254C>A	c.(3253-3255)gCg>gAg	p.A1085E	ZEB2_ENST00000303660.4_Missense_Mutation_p.A1085E|ZEB2_ENST00000539609.3_Missense_Mutation_p.A1061E|ZEB2_ENST00000409487.3_Missense_Mutation_p.A1085E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1085	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCGCTCCTCCGCCTCCCGCTT	0.592																																					p.A1085E	Melanoma(33;1235 1264 5755 16332)												.	.			0			c.C3254A												49	50	50					2																	145147409		2203	4300	6503	SO:0001583	missense	9839	exon10			TCCTCCGCCTCCC	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3254C>A	2.37:g.145147409G>T	ENSP00000454157:p.Ala1085Glu		52	0	0		45	0.07	3	NM_014795	0		0	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029238	0.93518	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14893	2.48;2.47;2.47	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;P;P	0.91635	0.999;0.846;0.846	T	0.34030	-0.9845	10	0.87932	D	0	-8.0186	19.7945	0.96474	0.0:0.0:1.0:0.0	.	1061;1084;1085	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	E	1061;1085;1085	ENSP00000443792:A1061E;ENSP00000302501:A1085E;ENSP00000386854:A1085E	ENSP00000302501:A1085E	A	-	2	0	ZEB2	144863879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.969000	0.87988	2.746000	0.94184	0.591000	0.81541	GCG			0.592	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254778.5		NM_014795		T	145147409	G	T	145147409	3	4	40	1	0	0	0	0	1	0	0	0	17647	1087	38	1	394	1	ZEB2	2	145147409	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	47929527	145147409	98051964	14	2817											
SCAP	22937	hgsc.bcm.edu	37	chr3	47459292	47459292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctcaagcccgctgccCacgccactgtcccggcgctg	5	6	11	19	4	1	1	1	1	0	0	2	1	2	1	5	1	3	2	5	1	1	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr3:47459292C>T	ENST00000265565.5	-	17	2884	c.2472G>A	c.(2470-2472)gtG>gtA	p.V824V	SCAP_ENST00000441517.2_Silent_p.V568V|SCAP_ENST00000545718.1_Silent_p.V431V|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	824	Interaction with SREBF2. {ECO:0000250}.				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)		GCCCGCTGCCCACGCCACTGT	0.721																																					p.V824V	Pancreas(149;978 1908 29304 37806 46700)												SCAP,caecum,carcinoma,-2,1	SCAP	-2	1	0			c.G2472A												16	19	18					3																	47459292		2083	4114	6197	SO:0001819	synonymous_variant	22937	exon17			GCTGCCCACGCCA	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.2472G>A	3.37:g.47459292C>T			141	0.0070921986	1		101	0.21	21	NM_012235	16	0.13	2	Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	c	6.114	0.389279	0.11581	.	.	ENSG00000114650	ENST00000383739	.	.	.	3.38	-0.498	0.12019	.	.	.	.	.	T	0.27524	0.0676	.	.	.	0.20821	N	0.999846	.	.	.	.	.	.	T	0.35943	-0.9768	5	0.87932	D	0	-0.001	0.5758	0.00703	0.4456:0.2181:0.1284:0.2079	.	.	.	.	R	349	.	ENSP00000373245:G349R	G	-	1	0	SCAP	47434296	0.063000	0.20901	0.008000	0.14137	0.837000	0.47467	-0.272000	0.08560	-0.076000	0.12775	-0.422000	0.05995	GGG			0.721	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246872.2		NM_012235		T	47459292	C	T	47459292	2	4	40	1	0	0	0	0	0	0	0	1	13900	581	21	3		3	SCAP	3	47459292	Silent	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10		47459292	150563138	15	2818											
EPHA6	285220	hgsc.bcm.edu	37	chr3	97194255	97194255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagccaccgccgctgttggcGgattcactctcctcgtcatc	5	11	9	16	4	3	0	2	0	1	0	6	1	3	1	4	2	1	2	4	2	1	3			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr3:97194255G>A	ENST00000514100.1	+	5	372	c.130G>A	c.(130-132)Gga>Aga	p.G44R	EPHA6_ENST00000502694.1_Missense_Mutation_p.G44R|EPHA6_ENST00000442602.2_Missense_Mutation_p.G18R|EPHA6_ENST00000389672.5_Missense_Mutation_p.G652R	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	558	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						CGCTGTTGGCGGATTCACTCT	0.428																																					p.G652R													EPHA6_ENST00000502694,extremity,malignant_melanoma,-1,2	EPHA6_ENST00000502694	-1	2	0			c.G1954A												84	86	86					3																	97194255		1924	4129	6053	SO:0001583	missense	285220	exon8			GTTGGCGGATTCA	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.130G>A	3.37:g.97194255G>A	ENSP00000421711:p.Gly44Arg		124	0	0		100	0.04	4	NM_001080448	1	0	0	D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.028433	0.75390	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	6.07	6.07	0.98685	.	.	.	.	.	T	0.43656	0.1257	M	0.89414	3.03	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	T	0.42050	-0.9474	9	0.72032	D	0.01	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	18;557;44;44	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	R	652;44;44;18	ENSP00000374323:G652R;ENSP00000421711:G44R;ENSP00000423950:G44R;ENSP00000403100:G18R	ENSP00000374323:G652R	G	+	1	0	EPHA6	98676945	1.000000	0.71417	0.972000	0.41901	0.172000	0.22775	8.689000	0.91265	2.885000	0.99019	0.655000	0.94253	GGA			0.428	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000359997.1		NM_001080448		A	97194255	G	A	97194255	3	1	40	1	0	0	0	0	1	0	0	0	5178	1117	39	1	2052	1	EPHA6	3	97194255	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	49734963	97194255	100828175	16	2819											
TMEM39A	55254	broad.mit.edu	37	chr3	119156690	119156690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattctgtggttgaaatctGctttcagacattctacttca	9	17	7	8	0	5	3	2	2	3	1	5	3	5	3	0	1	2	2	0	1	2	6			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr3:119156690G>T	ENST00000319172.5	-	6	1256	c.836C>A	c.(835-837)gCa>gAa	p.A279E	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	279						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GTTGAAATCTGCTTTCAGACA	0.448																																					p.A279E													.	TMEM39A	36		0			c.C836A												128	112	117					3																	119156690		2203	4300	6503	SO:0001583	missense	55254	exon6			AAATCTGCTTTCA	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.836C>A	3.37:g.119156690G>T	ENSP00000326063:p.Ala279Glu		149	0	0		111	0.04	4	NM_018266	56	0	0	D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393460	0.42410	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.42513	0.97	5.5	5.5	0.81552	.	0.098936	0.64402	D	0.000001	T	0.33962	0.0881	L	0.40543	1.245	0.50313	D	0.999863	B	0.31413	0.322	B	0.32342	0.144	T	0.15122	-1.0448	10	0.02654	T	1	-8.3074	18.3899	0.90479	0.0:0.0:1.0:0.0	.	279	Q9NV64	TM39A_HUMAN	E	279;125	ENSP00000326063:A279E	ENSP00000326063:A279E	A	-	2	0	TMEM39A	120639380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.906000	0.63293	2.584000	0.87258	0.650000	0.86243	GCA			0.448	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354941.3		NM_018266		T	119156690	G	T	119156690	3	4	40	1	0	0	0	0	1	0	0	0	16184	1319	46	2	646	2	TMEM39A	3	119156690	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	21962435	119156690	78865740	17	2820											
PLXND1	23129	mdanderson.org	37	chr3	129325111	129325111	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagctgcaggatcttgttGtagttgtccgtgaggcgccg	5	12	14	10	3	1	1	0	1	1	0	3	2	3	2	3	2	2	5	3	2	1	4			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr3:129325111G>T	ENST00000324093.4	-	1	550	c.372C>A	c.(370-372)taC>taA	p.Y124*	PLXND1_ENST00000393239.1_Nonsense_Mutation_p.Y124*	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	124	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						GGATCTTGTTGTAGTTGTCCG	0.716																																					p.Y124X	Ovarian(97;366 1484 3738 22084 39045)												.	.			0			c.C372A												6	6	6					3																	129325111		2085	4103	6188	SO:0001587	stop_gained	23129	exon1			CTTGTTGTAGTTG	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.372C>A	3.37:g.129325111G>T	ENSP00000317128:p.Tyr124*		43	0	0		38	0.08	3	NM_015103	9	0	0	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Nonsense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	g	38	6.751748	0.97813	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	.	.	.	3.36	3.36	0.38483	.	0.188970	0.36519	U	0.002558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	14.9375	0.70967	0.0:0.0:1.0:0.0	.	.	.	.	X	124	.	ENSP00000317128:Y124X	Y	-	3	2	PLXND1	130807801	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	8.983000	0.93477	1.745000	0.51790	0.299000	0.19835	TAC			0.716	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356132.4		NM_015103		T	129325111	G	T	129325111	4	4	40	1	0	0	0	0	0	1	0	0	12144	1372	48	3	5549	3	PLXND1	3	129325111	Nonsense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	10168421	129325111	68697319	18	2821											
DOK7	285489	mdanderson.org	37	chr4	3494689	3494689	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccgctgcgtccgcggCagctgcaggaggttggccgc	5	5	16	15	5	0	0	0	0	0	0	1	1	1	1	4	4	4	5	4	4	1	1			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr4:3494689C>T	ENST00000340083.5	+	7	1041	c.976C>T	c.(976-978)Cag>Tag	p.Q326*	DOK7_ENST00000389653.2_Nonsense_Mutation_p.Q326*|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	326	Ser-rich.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGTCCGCGGCAGCTGCAGGA	0.701																																					p.Q326X													.	.			0			c.C976T												5	6	5					4																	3494689		2056	4062	6118	SO:0001587	stop_gained	285489	exon7			CCGCGGCAGCTGC	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.976C>T	4.37:g.3494689C>T	ENSP00000344432:p.Gln326*		30	0	0		20	0.1	2	NM_173660	8	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Nonsense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343729	0.61073	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	.	.	.	4.11	4.11	0.48088	.	0.470359	0.22950	N	0.053675	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-10.005	15.513	0.75798	0.0:1.0:0.0:0.0	.	.	.	.	X	326	.	ENSP00000344432:Q326X	Q	+	1	0	DOK7	3464487	1.000000	0.71417	0.996000	0.52242	0.007000	0.05969	2.832000	0.48152	2.124000	0.65301	0.561000	0.74099	CAG			0.701	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000313538.1		NM_173660		T	3494689	C	T	3494689	4	4	40	1	0	0	0	0	0	1	0	0	4707	711	25	2	1002	2	DOK7	4	3494689	Nonsense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10		3494689	187659587	19	2822											
MSX1	4487	mdanderson.org	37	chr4	4861868	4861868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaggagagcgccctggCgccctccgagggcgtgcagg	6	3	18	14	4	0	1	0	0	0	1	1	3	1	1	4	5	2	1	4	5	1	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr4:4861868C>T	ENST00000382723.4	+	1	476	c.242C>T	c.(241-243)gCg>gTg	p.A81V		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	81					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGCGCCCTGGCGCCCTCCGAG	0.766																																					p.A81V													.	.			0			c.C242T												5	7	6					4																	4861868		1531	2796	4327	SO:0001583	missense	4487	exon1			CCCTGGCGCCCTC	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.242C>T	4.37:g.4861868C>T	ENSP00000372170:p.Ala81Val		28	0	0		18	0.11	2	NM_002448	1	0	0	A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859574	0.32884	.	.	ENSG00000163132	ENST00000382723	D	0.95307	-3.67	5.17	2.37	0.29283	.	0.659654	0.15920	N	0.238147	D	0.86719	0.6000	N	0.16478	0.41	0.47245	D	0.999368	B	0.02656	0.0	B	0.01281	0.0	T	0.75059	-0.3451	10	0.22706	T	0.39	-6.7835	8.1361	0.31056	0.0:0.7214:0.0:0.2786	.	75	P28360	MSX1_HUMAN	V	81	ENSP00000372170:A81V	ENSP00000372170:A81V	A	+	2	0	MSX1	4912769	0.000000	0.05858	0.970000	0.41538	0.491000	0.33493	-0.378000	0.07446	0.158000	0.19367	0.556000	0.70494	GCG			0.766	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206700.3				T	4861868	C	T	4861868	3	4	40	1	0	0	0	0	1	0	0	0	9911	768	27	1	244	1	MSX1	4	4861868	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	1367179	4861868	186292408	20	2823											
EPHA5	2044	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	66201775	66201775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcaatccagcattaaCtgatagagagcagcaggaca	15	6	10	10	0	0	2	0	1	0	1	1	4	1	3	2	1	6	4	2	1	3	2			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr4:66201775C>A	ENST00000273854.3	-	16	3327	c.2727G>T	c.(2725-2727)caG>caT	p.Q909H	EPHA5_ENST00000511294.1_Missense_Mutation_p.Q910H|EPHA5_ENST00000354839.4_Missense_Mutation_p.Q887H|EPHA5_ENST00000432638.2_Missense_Mutation_p.Q746H	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	909	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCAGCATTAACTGATAGAGAG	0.463										TSP Lung(17;0.13)																											p.Q909H													.	.			0			c.G2727T												122	106	111					4																	66201775		2203	4299	6502	SO:0001583	missense	2044	exon16			CATTAACTGATAG	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2727G>T	4.37:g.66201775C>A	ENSP00000273854:p.Gln909His		207	0	0		270	0.07	18	NM_004439	0		0	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932559	0.34096	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.8	-4.9	0.03094	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000030	T	0.55673	0.1935	L	0.47190	1.495	0.41676	D	0.989267	B;P;B;B	0.35050	0.084;0.482;0.069;0.231	B;B;B;B	0.39217	0.066;0.294;0.039;0.051	T	0.57648	-0.7775	10	0.72032	D	0.01	.	18.1447	0.89651	0.0:0.7375:0.0:0.2625	.	888;910;887;909	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	H	909;746;887;910	ENSP00000273854:Q909H;ENSP00000389208:Q746H;ENSP00000346899:Q887H;ENSP00000427638:Q910H	ENSP00000273854:Q909H	Q	-	3	2	EPHA5	65884370	0.003000	0.15002	0.953000	0.39169	0.431000	0.31685	-1.363000	0.02592	-0.752000	0.04728	-1.166000	0.01754	CAG			0.463	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251388.2		NM_004439		A	66201775	C	A	66201775	3	1	40	1	0	0	0	0	1	0	0	0	5177	564	20	3	398	3	EPHA5	4	66201775	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	61339907	66201775	124952501	21	2824											
PALLD	23022	broad.mit.edu;ucsc.edu	37	chr4	169589444	169589444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tagcagaggcctttgaggacGacacaggtcgctacacctgt	10	8	12	11	2	0	2	0	1	0	1	1	4	0	3	2	3	2	2	2	3	2	3	rs148155834		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr4:169589444G>C	ENST00000505667.1	+	3	1185	c.1012G>C	c.(1012-1014)Gac>Cac	p.D338H	PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.D338H|PALLD_ENST00000333488.4_Missense_Mutation_p.D215H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	338	Ig-like C2-type 1.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTTTGAGGACGACACAGGTCG	0.522									Pancreatic Cancer, Familial Clustering of																												p.D338H	Esophageal Squamous(109;1482 1532 18347 40239 51172)												PALLD,NS,carcinoma,0,1	PALLD	179	1	0			c.G1012C												153	137	143					4																	169589444		2203	4300	6503	SO:0001583	missense	23022	exon3	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	GAGGACGACACAG	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1012G>C	4.37:g.169589444G>C	ENSP00000425556:p.Asp338His		120	0.025	3		75	0.24	18	NM_001166108	0		0	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961288	0.92791	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.77	5.77	0.91146	.	0.000000	0.33712	U	0.004636	D	0.91549	0.7331	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91888	0.5521	10	0.62326	D	0.03	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	338;338	B7ZMM5;B2RTX2	.;.	H	338;338;317;215	ENSP00000261509:D338H;ENSP00000425556:D338H;ENSP00000423063:D317H;ENSP00000328945:D215H	ENSP00000261509:D338H	D	+	1	0	PALLD	169826019	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.724000	0.93272	0.561000	0.74099	GAC			0.522	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000363762.1		NM_016081		C	169589444	G	C	169589444	3	2	40	1	0	0	0	0	1	0	0	0	11424	1058	37	5	1018	5	PALLD	4	169589444	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	103387669	169589444	21564832	22	2825											
DAB2	1601	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	39377194	39377194	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacaggcactggagggggAgttgaggctgcaaagggtga	12	5	18	6	0	0	2	0	2	0	0	0	4	0	4	0	6	2	4	0	6	2	1			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr5:39377194A>G	ENST00000320816.6	-	12	2162	c.1695T>C	c.(1693-1695)acT>acC	p.T565T	DAB2_ENST00000545653.1_Silent_p.T544T|DAB2_ENST00000339788.6_Silent_p.T347T|DAB2_ENST00000509337.1_Silent_p.T544T	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	565					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CTGGAGGGGGAGTTGAGGCTG	0.512											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T565T													.	DAB2	124		0			c.T1695C												69	69	69					5																	39377194		2203	4300	6503	SO:0001819	synonymous_variant	1601	exon12			AGGGGGAGTTGAG	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1695T>C	5.37:g.39377194A>G			214	0.0046728972	1	885	120	0.04	5	NM_001343	8	0	0	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																					0.512	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367014.1		NM_001343		G	39377194	A	G	39377194	2	3	40	1	0	0	0	0	0	0	0	1	4220	291	11	4		4	DAB2	5	39377194	Silent	SNP	A	TCGA-2G-AAGW-01A-11D-A42Y-10		39377194	141538066	23	2826											
LMNB1	4001	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	126141339	126141339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagatttggagaatcgttGtcagagccttactgaggact	11	12	12	6	1	1	4	1	1	0	3	2	6	1	5	1	2	2	2	1	2	3	4			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr5:126141339G>T	ENST00000261366.5	+	3	954	c.593G>T	c.(592-594)tGt>tTt	p.C198F	LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Missense_Mutation_p.C198F	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	198	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GAGAATCGTTGTCAGAGCCTT	0.373																																					p.C198F													.	LMNB1	49		0			c.G593T												133	139	137					5																	126141339		2203	4300	6503	SO:0001583	missense	4001	exon3			ATCGTTGTCAGAG	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.593G>T	5.37:g.126141339G>T	ENSP00000261366:p.Cys198Phe		112	0	0		99	0.05	5	NM_005573	280	0	0	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704459	0.68615	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.88586	-2.4;-2.4	4.83	4.83	0.62350	Filament (1);	0.133263	0.64402	D	0.000001	D	0.90539	0.7035	M	0.71581	2.175	0.80722	D	1	P	0.34662	0.462	B	0.41412	0.356	D	0.89761	0.3947	10	0.41790	T	0.15	.	18.8196	0.92090	0.0:0.0:1.0:0.0	.	198	P20700	LMNB1_HUMAN	F	198	ENSP00000261366:C198F;ENSP00000378761:C198F	ENSP00000261366:C198F	C	+	2	0	LMNB1	126169238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.174000	0.50847	2.627000	0.88993	0.561000	0.74099	TGT			0.373	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250956.2		NM_005573		T	126141339	G	T	126141339	3	4	40	1	0	0	0	0	1	0	0	0	8864	1377	48	3	603	3	LMNB1	5	126141339	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	86764145	126141339	54773921	24	2827											
SRA1	10307	ucsc.edu	37	chr5	139937054	139937054	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatctccacttccgcttggCcagcggggcagcgcgtcatt	5	9	11	16	4	2	0	1	0	1	0	4	0	3	0	4	3	2	2	4	3	0	3			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr5:139937054C>T	ENST00000357560.4	-	0	2218				SRA1_ENST00000336283.6_Missense_Mutation_p.G7D|SRA1_ENST00000520427.1_5'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGCTTGGCCAGCGGGGCA	0.711																																					p.G7D													.	SRA1	24		0			c.G20A												7	8	8					5																	139937054		2127	4188	6315	SO:0001628	intergenic_variant	10011	exon1			GCTTGGCCAGCGG	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504		5.37:g.139937054C>T			33	0	0		40	0.1	4	NM_001035235	5	0	0	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854207	0.71719	.	.	ENSG00000213523	ENST00000336283	T	0.59772	0.24	4.6	3.7	0.42460	.	0.569653	0.13713	N	0.367933	T	0.40015	0.1100	N	0.22421	0.69	0.80722	D	1	B	0.21225	0.053	B	0.15484	0.013	T	0.12293	-1.0553	9	.	.	.	.	9.1968	0.37233	0.0:0.8913:0.0:0.1087	.	7	Q9HD15	SRA1_HUMAN	D	7	ENSP00000337513:G7D	.	G	-	2	0	SRA1	139917238	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	1.471000	0.35365	1.073000	0.40885	0.484000	0.47621	GGC			0.711	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251677.2		NM_006051		T	139937054	C	T	139937054	1	4	40	0	1	0	0	0	0	0	0	0	15155	739	26	2		2	SRA1	5	139937054	IGR	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	13795715	139937054	40978206	25	2828											
PCDHA3	56145	mdanderson.org	37	chr5	140182666	140182666	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcgcgtggggctgtacacGggagagatcagcacgacccg	8	7	15	11	5	1	1	1	0	0	1	2	4	1	2	1	3	2	3	1	3	1	2	rs368819593		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr5:140182666G>T	ENST00000522353.2	+	1	1884	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T628T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	628	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(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)			GGCTGTACACGGGAGAGATCA	0.657																																					p.T628T													PCDHA3_ENST00000522353,colon,carcinoma,+1,2	PCDHA3_ENST00000522353	1	2	0			c.G1884T												78	77	77					5																	140182666		2203	4299	6502	SO:0001819	synonymous_variant	56145	exon1			GTACACGGGAGAG	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.1884G>T	5.37:g.140182666G>T			60	0	0		57	0.05	3	NM_018906	0		0	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																					0.657	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372848.2		NM_018906		T	140182666	G	T	140182666	2	4	40	1	0	0	0	0	0	0	0	1	11542	1103	39	1		1	PCDHA3	5	140182666	Silent	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	245612	140182666	40732594	26	2829											
PDGFRB	5159	mdanderson.org	37	chr5	149502625	149502625	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagggggagcccaacGggcagagcattgctgtagag	9	5	18	9	1	0	2	0	0	0	2	0	3	0	3	1	4	4	5	1	4	2	2	rs146967726		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr5:149502625G>T	ENST00000261799.4	-	15	2632	c.2163C>A	c.(2161-2163)ccC>ccA	p.P721P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	721	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)	GGAGCCCAACGGGCAGAGCAT	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																p.P721P				Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	.	.			0			c.C2163A												86	88	87					5																	149502625		2203	4300	6503	SO:0001819	synonymous_variant	5159	exon15			CCCAACGGGCAGA	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.2163C>A	5.37:g.149502625G>T			66	0	0		57	0.05	3	NM_002609	7	0	0	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																					0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252332.1		NM_002609		T	149502625	G	T	149502625	2	4	40	1	0	0	0	0	0	0	0	1	11679	1103	39	1		1	PDGFRB	5	149502625	Silent	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	9319959	149502625	31412635	27	2830											
SKIV2L	6499	mdanderson.org	37	chr6	31931719	31931719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacctgtccctcctggcCtccctccgcacacgtgccca	4	9	8	20	2	0	0	0	0	0	0	4	0	4	0	7	1	2	2	7	1	1	1			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr6:31931719C>T	ENST00000375394.2	+	16	1790	c.1677C>T	c.(1675-1677)gcC>gcT	p.A559A	SKIV2L_ENST00000544581.1_Silent_p.A366A	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	559					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCCTCCTGGCCTCCCTCCGCA	0.617																																					p.A559A													.	.			0			c.C1677T												190	221	210					6																	31931719		1508	2708	4216	SO:0001819	synonymous_variant	6499	exon16			CCTGGCCTCCCTC		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1677C>T	6.37:g.31931719C>T			50	0	0		40	0.08	3	NM_006929	43	0.02	1	O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	CCDS4731.1																																																																																					0.617	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076264.3				T	31931719	C	T	31931719	2	4	40	1	0	0	0	0	0	0	0	1	14382	668	24	3		3	SKIV2L	6	31931719	Silent	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10		31931719	139183348	28	2831											
RUNX2	860	hgsc.bcm.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	10	1	18	12	4	0	0	0	0	0	0	0	1	0	1	0	6	7	7	0	6	1	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																					p.Q71E													RUNX2_ENST00000352853,NS,carcinoma,0,2	RUNX2_ENST00000352853	0	2	0			c.C211G												6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860	exon3			CAGCAGCAGGAGG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu		28	0	0		29	0.07	2	NM_001024630	1	0	0	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG			0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040755.2		NM_004348		G	45390482	C	G	45390482	3	3	40	1	0	0	0	0	1	0	0	0	13771	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	13458763	45390482	125724585	29	2832											
SLC25A27	9481	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	46623642	46623642	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaagcagctcttgctCggttgggagacggtgcaaga	11	7	16	7	2	1	3	0	0	1	3	2	5	1	3	0	4	4	5	0	4	3	2	rs200951505		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr6:46623642C>A	ENST00000371347.5	+	2	421	c.169C>A	c.(169-171)Cgg>Agg	p.R57R	SLC25A27_ENST00000411689.2_Silent_p.R57R|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	57					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AGCTCTTGCTCGGTTGGGAGA	0.488																																					p.R57R													.	SLC25A27	22		0			c.C169A												82	83	82					6																	46623642		1871	4108	5979	SO:0001819	synonymous_variant	9481	exon2			CTTGCTCGGTTGG	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"Solute carriers"	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.169C>A	6.37:g.46623642C>A			121	0.0082644628	1		113	0.21	24	NM_001204051	1	0	0	F5GWR4|Q5VTS9|Q8N518	Silent	SNP	ENST00000371347.5	37	CCDS43470.1																																																																																					0.488	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040791.1		NM_004277		A	46623642	C	A	46623642	2	1	40	1	0	0	0	0	0	0	0	1	14513	875	31	1		1	SLC25A27	6	46623642	Silent	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	1233160	46623642	124491425	30	2833											
COL21A1	81578	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	56035583	56035583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatagttaatattctccatAaatcccaaattttcttgact	14	16	2	9	0	2	1	0	1	2	0	4	1	3	1	2	0	0	1	2	0	7	8			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr6:56035583A>G	ENST00000244728.5	-	5	1287	c.890T>C	c.(889-891)tTa>tCa	p.L297S	COL21A1_ENST00000535941.1_Missense_Mutation_p.L297S|COL21A1_ENST00000370819.1_Missense_Mutation_p.L297S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	297	Laminin G-like.				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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATTCTCCATAAATCCCAAAT	0.338																																					p.L297S													.	.			0			c.T890C												72	64	67					6																	56035583		1830	4076	5906	SO:0001583	missense	81578	exon5			CTCCATAAATCCC	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.890T>C	6.37:g.56035583A>G	ENSP00000244728:p.Leu297Ser		230	0	0		261	0.09	24	NM_030820	2	0	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666704	0.47677	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.04970	3.52;3.52;3.52	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.41605	D	0.000850	T	0.17619	0.0423	M	0.79926	2.475	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.961;0.994	T	0.01225	-1.1413	10	0.87932	D	0	.	14.0857	0.64954	1.0:0.0:0.0:0.0	.	297;297	Q96P44-3;Q96P44	.;COLA1_HUMAN	S	297	ENSP00000244728:L297S;ENSP00000359855:L297S;ENSP00000444384:L297S	ENSP00000244728:L297S	L	-	2	0	COL21A1	56143542	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.651000	0.91078	1.727000	0.51537	0.482000	0.46254	TTA			0.338	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041004.2				G	56035583	A	G	56035583	3	3	40	1	0	0	0	0	1	0	0	0	3682	372	13	4	2087	4	COL21A1	6	56035583	Missense_Mutation	SNP	A	TCGA-2G-AAGW-01A-11D-A42Y-10	9411941	56035583	115079484	31	2834											
WDR27	253769	mdanderson.org	37	chr6	170043874	170043874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccacaggccagccactGcccatctcctgttaaaagaa	13	6	6	16	0	1	1	0	0	1	1	2	1	1	1	5	1	3	1	5	1	4	1			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr6:170043874G>T	ENST00000448612.1	-	17	1775	c.1666C>A	c.(1666-1668)Cag>Aag	p.Q556K	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.Q556K|WDR27_ENST00000423258.1_Missense_Mutation_p.Q429K	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	526						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GCCAGCCACTGCCCATCTCCT	0.428																																					p.Q556K													.	.			0			c.C1666A												38	43	41					6																	170043874		1840	4089	5929	SO:0001583	missense	253769	exon17			GCCACTGCCCATC	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1666C>A	6.37:g.170043874G>T	ENSP00000416289:p.Gln556Lys		61	0	0		40	0.08	3	NM_182552	3	0	0	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.721869	0.03182	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;D	0.95307	5.11;1.15;-3.67	5.19	4.32	0.51571	.	0.908661	0.09240	N	0.829370	D	0.83147	0.5191	L	0.40543	1.245	0.18873	N	0.999986	B;P;B	0.43287	0.013;0.802;0.169	B;B;B	0.40677	0.014;0.337;0.03	T	0.73148	-0.4074	10	0.12430	T	0.62	-5.18	7.2837	0.26326	0.0922:0.1711:0.7367:0.0	.	556;429;556	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	K	556;556;429	ENSP00000416289:Q556K;ENSP00000330265:Q556K;ENSP00000397869:Q429K	ENSP00000330265:Q556K	Q	-	1	0	WDR27	169785799	0.005000	0.15991	0.009000	0.14445	0.335000	0.28730	1.508000	0.35769	1.184000	0.42957	0.591000	0.81541	CAG			0.428	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000407334.1		NM_182552		T	170043874	G	T	170043874	3	4	40	1	0	0	0	0	1	0	0	0	17308	1328	46	2	943	2	WDR27	6	170043874	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	114008291	170043874	1071193	32	2835											
TNRC18	84629	broad.mit.edu	37	chr7	5410781	5410781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagcggttcttcctcCgggccctcccgcagcggctc	3	8	11	19	4	2	0	1	0	1	0	6	0	5	0	5	3	3	3	5	3	0	2	rs374062653		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr7:5410781C>T	ENST00000430969.1	-	11	3792	c.3444G>A	c.(3442-3444)ccG>ccA	p.P1148P	TNRC18_ENST00000399537.4_Silent_p.P1148P	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1148	Pro-rich.						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)		GTTCTTCCTCCGGGCCCTCCC	0.692																																					p.P1148P													.	TNRC18	311		0			c.G3444A							C		0,4002		0,0,2001	14	17	16		3444	-8.4	0	7		16	3,8293		0,3,4145	no	coding-synonymous	TNRC18	NM_001080495.2		0,3,6146	TT,TC,CC		0.0362,0.0,0.0244		1148/2969	5410781	3,12295	2001	4148	6149	SO:0001819	synonymous_variant	84629	exon11			TTCCTCCGGGCCC	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.3444G>A	7.37:g.5410781C>T			82	0	0		116	0.03	4	NM_001080495	119	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																					0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding						T	5410781	C	T	5410781	2	4	40	1	0	0	0	0	0	0	0	1	16362	639	23	1		1	TNRC18	7	5410781	Silent	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10		5410781	153727882	33	2836											
DBNL	28988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	44098556	44098556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggagagggccatgtccaCcacctccatctccagtcctc	9	7	9	16	0	1	1	0	0	1	1	6	3	4	1	7	2	0	0	7	2	1	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr7:44098556C>A	ENST00000448521.1	+	9	907	c.809C>A	c.(808-810)aCc>aAc	p.T270N	DBNL_ENST00000440166.1_Missense_Mutation_p.T167N|DBNL_ENST00000456905.1_Missense_Mutation_p.T222N|DBNL_ENST00000452943.1_Missense_Mutation_p.T246N|DBNL_ENST00000490734.2_Missense_Mutation_p.T176N|DBNL_ENST00000494774.1_Missense_Mutation_p.T271N|DBNL_ENST00000468694.1_Missense_Mutation_p.T279N|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	270					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						GCCATGTCCACCACCTCCATC	0.617																																					p.T279N	NSCLC(68;573 1327 18604 34760 37992)												.	.			0			c.C836A												106	94	98					7																	44098556		2203	4300	6503	SO:0001583	missense	28988	exon9			TGTCCACCACCTC	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.809C>A	7.37:g.44098556C>A	ENSP00000411701:p.Thr270Asn		96	0	0		101	0.2	20	NM_001122956	141	0.29	41	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	CCDS34623.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.01|16.01|16.01	3.002288|3.002288|3.002288	0.54254|0.54254|0.54254	.|.|.	.|.|.	ENSG00000136279|ENSG00000136279|ENSG00000136279	ENST00000432854|ENST00000452661|ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	.|.|T;T;T;T;T;T;T	.|.|0.30714	.|.|1.91;2.23;2.22;2.24;1.52;1.92;2.23	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	.|.|.	.|.|0.543746	.|.|0.18543	.|.|N	.|.|0.138154	T|T|T	0.43523|0.43523|0.43523	0.1251|0.1251|0.1251	L|L|L	0.48362|0.48362|0.48362	1.52|1.52|1.52	0.45867|0.45867|0.45867	D|D|D	0.998723|0.998723|0.998723	.|.|D;D;B;D;B;D;D;B;P	.|.|0.67145	.|.|0.996;0.978;0.06;0.987;0.24;0.978;0.987;0.126;0.848	.|.|P;P;B;P;B;P;P;B;P	.|.|0.56916	.|.|0.719;0.649;0.05;0.698;0.123;0.649;0.809;0.05;0.549	T|T|T	0.04635|0.04635|0.04635	-1.0937|-1.0937|-1.0937	5|5|10	.|.|0.29301	.|.|T	.|.|0.29	-59.8959|-59.8959|-59.8959	16.5603|16.5603|16.5603	0.84551|0.84551|0.84551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|167;219;200;222;176;246;279;270;271	.|.|B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.|.|.;.;.;.;.;.;.;DBNL_HUMAN;.	Q|T|N	198|10|270;222;167;246;279;271;176;200	.|.|ENSP00000411701:T270N;ENSP00000416421:T222N;ENSP00000415173:T167N;ENSP00000405343:T246N;ENSP00000417653:T279N;ENSP00000419992:T271N;ENSP00000417749:T176N	.|.|ENSP00000415173:T167N	H|P|T	+|+|+	3|1|2	2|0|0	DBNL|DBNL|DBNL	44065081|44065081|44065081	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.903000|0.903000|0.903000	0.53119|0.53119|0.53119	0.536000|0.536000|0.536000	0.23129|0.23129|0.23129	2.684000|2.684000|2.684000	0.91462|0.91462|0.91462	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|CCA|ACC			0.617	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339572.2		NM_014063		A	44098556	C	A	44098556	3	1	40	1	0	0	0	0	1	0	0	0	4257	507	18	3	870	3	DBNL	7	44098556	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	38687775	44098556	115040107	34	2837											
MLL3	58508	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	151874328	151874328	+	Frame_Shift_Del	DEL	T	T	-																															tgggatcattagtttccaaaTtatctaaagtatccaattca																										TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr7:151874328delT	ENST00000262189.6	-	38	8428	c.8210delA	c.(8209-8211)aatfs	p.N2737fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.N2737fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2737	Asp-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)										AGTTTCCAAATTATCTAAAGT	0.368																																					p.N2737fs													.	MLL3	1564		0			c.8211delT												75	76	76					7																	151874328		2203	4300	6503	SO:0001589	frameshift_variant	58508	exon38			TCCAAATTATCTA	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.8210delA	7.37:g.151874328delT	ENSP00000262189:p.Asn2737fs		97	0	0		59	0.34	20	NM_170606	1	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	CCDS5931.1																																																																																					0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3				-	151874328	T	-	151874328	7	5	40	1	0	1	0	1	0	0	0	0	9638	1493	52	0	6613	0	MLL3	7	151874328	Frame_Shift_Del	DEL	T	TCGA-2G-AAGW-01A-11D-A42Y-10	107775772	151874328	7264335	35	2838											
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	3855559	3855559	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagtccgcgttgttctcGtactctgaagggaagtgcgg	6	11	15	9	4	2	1	0	1	2	0	4	2	3	2	1	2	3	4	1	2	3	3	rs372509834		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr8:3855559G>C	ENST00000520002.1	-	5	1239	c.684C>G	c.(682-684)taC>taG	p.Y228*	CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y228*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y228*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y228*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y228*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y228*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y228*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	228	CUB 2. {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)		CGTTGTTCTCGTACTCTGAAG	0.567																																					p.Y228X													.	.			0			c.C684G												47	50	49					8																	3855559		2117	4267	6384	SO:0001587	stop_gained	64478	exon5			GTTCTCGTACTCT			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.684C>G	8.37:g.3855559G>C	ENSP00000430733:p.Tyr228*		144	0	0		117	0.11	13	NM_033225	0		0	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.030486	0.75504	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.45	-7.76	0.01232	.	0.000000	0.27451	U	0.019319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.5574	18.6326	0.91366	0.7793:0.0:0.2207:0.0	.	.	.	.	X	228;228;90;228;228;228	.	ENSP00000320445:Y90X	Y	-	3	2	CSMD1	3842967	0.009000	0.17119	0.007000	0.13788	0.012000	0.07955	-0.742000	0.04850	-1.750000	0.01328	-1.578000	0.00866	TAC			0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225		C	3855559	G	C	3855559	4	2	40	1	0	0	0	0	0	1	0	0	3946	1140	40	5	10087	5	CSMD1	8	3855559	Nonsense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		3855559	142508463	36	2839											
SULF1	23213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	70533339	70533339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaggacccagtgacctgCtcacagtccggcagagcacg	11	5	12	13	2	1	2	1	1	0	1	2	3	2	3	3	2	2	4	3	2	2	1			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr8:70533339C>T	ENST00000260128.4	+	14	2164	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F	SULF1_ENST00000402687.4_Missense_Mutation_p.L483F|SULF1_ENST00000458141.2_Missense_Mutation_p.L483F|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.L483F	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	483					apoptotic process (GO:0006915)|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 angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGTGACCTGCTCACAGTCCG	0.522																																					p.L483F													.	.			0			c.C1447T												86	86	86					8																	70533339		2203	4300	6503	SO:0001583	missense	23213	exon14			GACCTGCTCACAG	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1447C>T	8.37:g.70533339C>T	ENSP00000260128:p.Leu483Phe		92	0	0		164	0.3	49	NM_001128205	0		0	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577276	0.45902	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.95	5.95	0.96441	Alkaline-phosphatase-like, core domain (1);	0.232981	0.44285	D	0.000466	D	0.96377	0.8818	N	0.22421	0.69	0.36162	D	0.848175	P	0.50369	0.934	P	0.47528	0.549	D	0.96033	0.9018	10	0.10111	T	0.7	.	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	483	Q8IWU6	SULF1_HUMAN	F	483	ENSP00000403040:L483F;ENSP00000260128:L483F;ENSP00000385704:L483F;ENSP00000390315:L483F	ENSP00000260128:L483F	L	+	1	0	SULF1	70695893	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	2.662000	0.46766	2.824000	0.97209	0.655000	0.94253	CTC			0.522	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378885.2		NM_015170		T	70533339	C	T	70533339	3	4	40	1	0	0	0	0	1	0	0	0	15393	797	28	2	1485	2	SULF1	8	70533339	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	66677780	70533339	75830683	37	2840											
UBAP2	55833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	33953311	33953311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggagaacaggagttgacgGcagtggagctgccagtccct	10	6	16	9	1	0	2	0	1	0	1	1	6	1	4	2	4	3	3	2	4	1	1			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr9:33953311G>A	ENST00000379238.1	-	12	1145	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	UBAP2_ENST00000418786.2_Missense_Mutation_p.A290V|UBAP2_ENST00000360802.1_Missense_Mutation_p.A343V|UBAP2_ENST00000539807.1_Missense_Mutation_p.A98V|UBAP2_ENST00000449054.1_Missense_Mutation_p.A343V|UBAP2_ENST00000379239.4_Missense_Mutation_p.A76V|SNORD121A_ENST00000459386.1_RNA					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGAGTTGACGGCAGTGGAGCT	0.443																																					p.A343V													.	.			0			c.C1028T												67	71	70					9																	33953311		2203	4300	6503	SO:0001583	missense	55833	exon12			TTGACGGCAGTGG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1028C>T	9.37:g.33953311G>A	ENSP00000368540:p.Ala343Val		164	0	0		131	0.16	21	NM_018449	48	0.25	12		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	8.562	0.877942	0.17395	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T;T	0.33216	2.7;2.7;2.7;2.4;2.39;2.14;1.42	5.85	4.02	0.46733	.	0.421503	0.30593	N	0.009293	T	0.25827	0.0629	L	0.47716	1.5	0.32604	N	0.525491	B;B;B;B;B;B;B	0.29766	0.007;0.256;0.007;0.007;0.007;0.166;0.101	B;B;B;B;B;B;B	0.20955	0.011;0.023;0.006;0.006;0.006;0.01;0.032	T	0.24225	-1.0166	10	0.36615	T	0.2	-0.4541	12.976	0.58538	0.132:0.0:0.868:0.0	.	290;268;98;76;252;268;343	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;.;UBAP2_HUMAN	V	343;343;343;252;261;76;98;290;290;197	ENSP00000368540:A343V;ENSP00000416932:A343V;ENSP00000354039:A343V;ENSP00000368541:A76V;ENSP00000439329:A98V;ENSP00000404436:A290V;ENSP00000414800:A290V	ENSP00000354039:A343V	A	-	2	0	UBAP2	33943311	0.996000	0.38824	0.244000	0.24202	0.004000	0.04260	2.935000	0.48963	0.816000	0.34421	-0.422000	0.05995	GCC			0.443	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001071.1		NM_018449		A	33953311	G	A	33953311	3	1	40	1	0	0	0	0	1	0	0	0	16861	1203	42	2	2403	2	UBAP2	9	33953311	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		33953311	107260120	38	2841											
DOLPP1	57171	ucsc.edu	37	chr9	131851281	131851281	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagctggggacgaaactgCagtgaccagtgggtgtggct	9	7	17	8	1	0	1	0	1	0	0	0	3	0	2	1	4	3	4	1	4	2	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr9:131851281C>T	ENST00000372546.4	+	8	744	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	DOLPP1_ENST00000540102.1_Nonsense_Mutation_p.Q97*|DOLPP1_ENST00000406974.3_Nonsense_Mutation_p.Q195*	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	238					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GACGAAACTGCAGTGACCAGT	0.587																																					p.Q238X													.	DOLPP1	17		0			c.C712T												136	100	112					9																	131851281		2203	4300	6503	SO:0001587	stop_gained	57171	exon8			AAACTGCAGTGAC	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"linked to Surfeit genes in Fugu rubripes 2"	614516	"dolichyl pyrophosphate phosphatase 1"			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.712C>T	9.37:g.131851281C>T	ENSP00000361625:p.Gln238*		47	0	0		37	0.11	4	NM_020438	76	0	0	A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Nonsense_Mutation	SNP	ENST00000372546.4	37	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391807	0.83011	.	.	ENSG00000167130	ENST00000372546;ENST00000406974;ENST00000540102	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.41564	D	0.98864	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-9.8899	18.1107	0.89534	0.0:1.0:0.0:0.0	.	.	.	.	X	238;195;97	.	ENSP00000361625:Q238X	Q	+	1	0	DOLPP1	130891102	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.433000	0.80362	2.619000	0.88677	0.561000	0.74099	CAG			0.587	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054548.4		NM_020438		T	131851281	C	T	131851281	4	4	40	1	0	0	0	0	0	1	0	0	4709	711	25	2	742	2	DOLPP1	9	131851281	Nonsense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	97897970	131851281	9362150	39	2842											
C9orf139	401563	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139927646	139927646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttgtgtggtcccaggCgtggccagacccagacgtcc	6	7	14	14	2	0	2	0	0	0	2	2	3	2	3	5	4	0	0	5	4	0	1	rs368472017		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr9:139927646C>A	ENST00000314330.2	+	2	1645	c.131C>A	c.(130-132)gCg>gAg	p.A44E	FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	44										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGGTCCCAGGCGTGGCCAGAC	0.552																																					p.A44E													.	.			0			c.C131A							C	GLU/ALA	1,4405	2.1+/-5.4	0,1,2202	145	123	131		131	-0.3	0	9		131	0,8590		0,0,4295	no	missense	C9orf139	NM_207511.1	107	0,1,6497	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	44/191	139927646	1,12995	2203	4295	6498	SO:0001583	missense	401563	exon2			CCCAGGCGTGGCC		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.131C>A	9.37:g.139927646C>A	ENSP00000318119:p.Ala44Glu		103	0	0		57	0.3	17	NM_207511	0		0	A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	C	4.324	0.059506	0.08339	2.27E-4	0.0	ENSG00000180539	ENST00000314330	T	0.55588	0.51	1.78	-0.292	0.12839	.	.	.	.	.	T	0.30510	0.0767	N	0.08118	0	0.09310	N	1	D	0.56968	0.978	P	0.45099	0.469	T	0.18493	-1.0335	9	0.87932	D	0	.	4.4589	0.11656	0.0:0.6171:0.0:0.3829	.	44	Q6ZV77	CI139_HUMAN	E	44	ENSP00000318119:A44E	ENSP00000318119:A44E	A	+	2	0	C9orf139	139047467	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.523000	0.00949	-0.075000	0.12798	0.205000	0.17691	GCG			0.552	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055213.2		NM_207511		A	139927646	C	A	139927646	3	1	40	1	0	0	0	0	1	0	0	0	2461	768	27	1	133	1	C9orf139	9	139927646	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	8076365	139927646	1285785	40	2843											
NEBL	10529	mdanderson.org	37	chr10	21141490	21141490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacctgactttggaggacgGcattgcctttatggtgcaga	8	12	13	8	1	0	2	0	1	0	1	0	4	0	4	2	4	3	3	2	4	2	5			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr10:21141490G>A	ENST00000377122.4	-	10	1388	c.992C>T	c.(991-993)gCc>gTc	p.A331V	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	331					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTGGAGGACGGCATTGCCTTT	0.498																																					p.A331V													.	.			0			c.C992T												149	107	121					10																	21141490		2203	4300	6503	SO:0001583	missense	10529	exon10			AGGACGGCATTGC	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.992C>T	10.37:g.21141490G>A	ENSP00000366326:p.Ala331Val		42	0	0		30	0.1	3	NM_006393	0		0	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263958	0.80358	.	.	ENSG00000078114	ENST00000377122	T	0.53640	0.61	5.98	5.98	0.97165	.	0.177079	0.48767	D	0.000165	T	0.63331	0.2502	M	0.66939	2.045	0.80722	D	1	P	0.45768	0.866	P	0.53185	0.72	T	0.63292	-0.6670	10	0.66056	D	0.02	.	19.2296	0.93833	0.0:0.0:1.0:0.0	.	331	O76041	NEBL_HUMAN	V	331	ENSP00000366326:A331V	ENSP00000366326:A331V	A	-	2	0	NEBL	21181496	0.999000	0.42202	0.695000	0.30226	0.714000	0.41099	5.077000	0.64419	2.835000	0.97688	0.650000	0.86243	GCC			0.498	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000047113.1		NM_006393		A	21141490	G	A	21141490	3	1	40	1	0	0	0	0	1	0	0	0	10320	1203	42	2	2128	2	NEBL	10	21141490	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		21141490	114393257	41	2844											
GDF2	2658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	48413904	48413904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagtggctgccagcccCggcgctccttttccgcctgg	3	10	12	16	3	0	1	0	1	0	0	2	1	2	1	6	3	2	2	6	3	0	3			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr10:48413904C>T	ENST00000249598.1	-	2	1123	c.964G>A	c.(964-966)Ggg>Agg	p.G322R		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	322					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|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)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CTGCCAGCCCCGGCGCTCCTT	0.612																																					p.G322R													.	.			0			c.G964A												51	53	52					10																	48413904		2203	4300	6503	SO:0001583	missense	2658	exon2			CAGCCCCGGCGCT	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.964G>A	10.37:g.48413904C>T	ENSP00000249598:p.Gly322Arg		91	0	0		62	0.26	16	NM_016204	0		0	Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815623	0.50527	.	.	ENSG00000128802	ENST00000249598	D	0.88975	-2.45	5.46	4.55	0.56014	Transforming growth factor-beta, C-terminal (1);	0.111701	0.64402	D	0.000011	D	0.87888	0.6291	M	0.62723	1.935	0.22666	N	0.99888	D	0.60160	0.987	P	0.47827	0.558	T	0.79897	-0.1609	10	0.14656	T	0.56	.	13.7428	0.62857	0.0:0.9242:0.0:0.0758	.	322	Q9UK05	GDF2_HUMAN	R	322	ENSP00000249598:G322R	ENSP00000249598:G322R	G	-	1	0	GDF2	48033910	0.011000	0.17503	0.808000	0.32385	0.025000	0.11179	1.573000	0.36472	2.571000	0.86741	0.467000	0.42956	GGG			0.612	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047891.1		NM_016204		T	48413904	C	T	48413904	3	4	40	1	0	0	0	0	1	0	0	0	6328	652	23	1	329	1	GDF2	10	48413904	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	27272414	48413904	87120843	42	2845											
MUC6	4588	bcgsc.ca	37	chr11	1016870	1016871	+	Missense_Mutation	DNP	GG	GG	AT																															ataggacctgtggaagagaaGggactgctccctgtaggtgg																								rs554068781|rs76307106		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	GG	GG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr11:1016870_1016871GG>AT	ENST00000421673.2	-	31	5980_5981	c.5930_5931CC>AT	c.(5929-5931)cCC>cAT	p.P1977H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1977	Thr-rich.				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)		TGGAAGAGAAGGGACTGCTCCC	0.589																																					p.P1977H													.	MUC6	408		0			c.C5930A																																									SO:0001583	missense	4588	exon31			AGAGAAGGGACTG	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.5930_5931delinsAT	11.37:g.1016870_1016871delinsAT	ENSP00000406861:p.Pro1977His		610	0.0049180328	3		280	0.05	13	NM_005961	1	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	DNP	ENST00000421673.2	37	CCDS44513.1																																																																																					0.589	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		AT	1016871	GG	AT	1016870	3	1	40	1	0	0	0	0	1	0	0	0	9996	987	35	3	1400	3	MUC6	11	1016870	Missense_Mutation	DNP	GG	TCGA-2G-AAGW-01A-11D-A42Y-10		1016870	133989646	43	2846											
SLC15A3	51296	mdanderson.org	37	chr11	60718892	60718892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagaaggcggcgcgctcCagcatctccaccagcagcac	10	3	11	17	4	1	1	0	0	1	1	3	2	2	1	4	2	3	4	4	2	2	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr11:60718892C>T	ENST00000227880.3	-	1	365	c.132G>A	c.(130-132)ctG>ctA	p.L44L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	44					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CGGCGCGCTCCAGCATCTCCA	0.756																																					p.L44L													.	.			0			c.G132A												6	5	5					11																	60718892		1838	3723	5561	SO:0001819	synonymous_variant	51296	exon1			GCGCTCCAGCATC	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.132G>A	11.37:g.60718892C>T			88	0	0		46	0.07	3	NM_016582	2	0	0	Q9P2X9	Silent	SNP	ENST00000227880.3	37	CCDS7998.1																																																																																					0.756	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396366.1		NM_016582		T	60718892	C	T	60718892	2	4	40	1	0	0	0	0	0	0	0	1	14423	581	21	3		3	SLC15A3	11	60718892	Silent	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	59702022	60718892	74287624	44	2847											
IGHMBP2	3508	mdanderson.org	37	chr11	68704480	68704480	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagagggtcaggagcgcGcaggggcagcccgccagcaa	9	2	17	13	3	1	1	1	0	0	1	1	2	1	2	2	4	4	4	2	4	1	0	rs2228207	byFrequency	TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr11:68704480G>T	ENST00000255078.3	+	13	2643	c.2532G>T	c.(2530-2532)gcG>gcT	p.A844A		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	844	Gln/Pro-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCAGGAGCGCGCAGGGGCAGC	0.587																																					p.A844A													.	.			0			c.G2532T												13	16	15					11																	68704480		2135	4194	6329	SO:0001819	synonymous_variant	3508	exon13			GAGCGCGCAGGGG	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2532G>T	11.37:g.68704480G>T			27	0	0		20	0.1	2	NM_002180	13	0	0	A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	CCDS8187.1																																																																																					0.587	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396862.1		NM_002180		T	68704480	G	T	68704480	2	4	40	1	0	0	0	0	0	0	0	1	7606	1074	38	1		1	IGHMBP2	11	68704480	Silent	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	7985588	68704480	66302036	45	2848											
FZD4	8322	mdanderson.org	37	chr11	86662968	86662968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcacaggatatcctttccCggcctacagtcagcctgaca	11	9	7	14	1	2	1	2	1	0	0	4	2	4	2	4	2	2	0	4	2	3	3	rs148970041		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr11:86662968C>T	ENST00000531380.1	-	2	1135	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	277					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATCCTTTCCCGGCCTACAGT	0.413																																					p.R277Q													.	.			0			c.G830A							C	GLN/ARG	0,4402		0,0,2201	33	34	34		830	5.7	1	11	dbSNP_134	34	1,8597	1.2+/-3.3	0,1,4298	no	missense	FZD4	NM_012193.3	43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	277/538	86662968	1,12999	2201	4299	6500	SO:0001583	missense	8322	exon2			CTTTCCCGGCCTA	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.830G>A	11.37:g.86662968C>T	ENSP00000434034:p.Arg277Gln		81	0	0		39	0.08	3	NM_012193	2	0	0	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159730	0.57368	0.0	1.16E-4	ENSG00000174804	ENST00000531380	D	0.82255	-1.59	5.72	5.72	0.89469	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.89626	0.6769	M	0.73372	2.23	0.80722	D	1	D	0.69078	0.997	P	0.59703	0.862	D	0.88675	0.3198	9	.	.	.	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	277	Q9ULV1	FZD4_HUMAN	Q	277	ENSP00000434034:R277Q	.	R	-	2	0	FZD4	86340616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.072000	0.57563	2.711000	0.92665	0.655000	0.94253	CGG	0		0.413	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393818.2		NM_012193		T	86662968	C	T	86662968	3	4	40	1	0	0	0	0	1	0	0	0	6145	652	23	1	787	1	FZD4	11	86662968	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	17958488	86662968	48343548	46	2849											
FOXJ2	55810	broad.mit.edu	37	chr12	8196601	8196601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcccacggggaggcgttGcagggagtggagaagcctca	10	4	18	9	2	1	2	1	0	0	2	1	5	1	4	2	5	3	2	2	5	1	1			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr12:8196601G>T	ENST00000162391.3	+	5	1677	c.532G>T	c.(532-534)Gca>Tca	p.A178S	FOXJ2_ENST00000428177.2_Missense_Mutation_p.A178S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	178					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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 (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGGAGGCGTTGCAGGGAGTGG	0.532																																					p.A178S													.	FOXJ2	43		0			c.G532T												76	74	75					12																	8196601		2203	4300	6503	SO:0001583	missense	55810	exon5			GGCGTTGCAGGGA	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.532G>T	12.37:g.8196601G>T	ENSP00000162391:p.Ala178Ser		109	0	0		317	0.02	5	NM_018416	6	0	0	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	4.160	0.028217	0.08054	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95103	-3.41;-3.61	5.11	4.22	0.49857	.	0.703396	0.12805	N	0.437649	D	0.85716	0.5761	N	0.08118	0	0.19945	N	0.999941	B;B	0.16396	0.01;0.017	B;B	0.18561	0.008;0.022	T	0.68515	-0.5388	10	0.07030	T	0.85	.	11.8574	0.52446	0.0:0.8233:0.1767:0.0	.	178;178	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	S	178	ENSP00000162391:A178S;ENSP00000403411:A178S	ENSP00000162391:A178S	A	+	1	0	FOXJ2	8087868	0.998000	0.40836	0.707000	0.30419	0.750000	0.42670	1.892000	0.39748	1.159000	0.42565	-0.228000	0.12330	GCA			0.532	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400088.1		NM_018416		T	8196601	G	T	8196601	3	4	40	1	0	0	0	0	1	0	0	0	6025	1319	46	2	546	2	FOXJ2	12	8196601	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		8196601	125655294	47	2850											
C12orf35	55196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	32138197	32138197	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtagacacgaaagcgagTtcatctaaatttagtagaat	15	12	8	6	2	3	2	1	0	2	2	3	4	3	2	0	0	1	3	0	0	7	6			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr12:32138197T>C	ENST00000312561.4	+	4	4722	c.4308T>C	c.(4306-4308)agT>agC	p.S1436S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1436																	CGAAAGCGAGTTCATCTAAAT	0.348																																					p.S1436S													.	.			0			c.T4308C												75	84	81					12																	32138197		2203	4300	6503	SO:0001819	synonymous_variant	55196	exon4			AGCGAGTTCATCT	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4308T>C	12.37:g.32138197T>C			149	0	0		372	0.41	154	NM_018169	445	0.48	213	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																					0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250307.2		NM_018169		C	32138197	T	C	32138197	2	2	40	1	0	0	0	0	0	0	0	1	1684	1722	60	4		4	C12orf35	12	32138197	Silent	SNP	T	TCGA-2G-AAGW-01A-11D-A42Y-10	23941596	32138197	101713698	48	2851											
KIF21A	55605	broad.mit.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	3	17	1	20	0	5	1	2	1	3	0	13	1	12	1	7	0	0	0	7	0	0	3			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					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)	p.E602D(1)|p.E602E(1)		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)				cctcctcctcctcttcttcat	0.398																																					p.E615E													KIF21A,NS,carcinoma,0,2	KIF21A	238	2	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)	c.G1845A												85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605	exon14			CTCCTCCTCTTCT	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.1845G>A	12.37:g.39735383C>T			138	0.0072463768	1		334	0.01	5	NM_001173464	23	0	0	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1																																																																																					0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403581.1		NM_017641		T	39735383	C	T	39735383	2	4	40	1	0	0	0	0	0	0	0	1	8303	680	24	3		3	KIF21A	12	39735383	Silent	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	7597186	39735383	94116512	49	2852											
DDX23	9416	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49231066	49231066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcctgaagccactcacagGgggttgtagtcaatggatgt	10	9	14	8	0	2	1	2	1	0	0	2	2	2	2	2	4	1	2	2	4	3	2			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr12:49231066G>A	ENST00000308025.3	-	8	943	c.864C>T	c.(862-864)ccC>ccT	p.P288P	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	288					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						CCACTCACAGGGGGTTGTAGT	0.507																																					p.P288P													.	.			0			c.C864T												99	96	97					12																	49231066		2203	4300	6503	SO:0001819	synonymous_variant	9416	exon8			TCACAGGGGGTTG	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.864C>T	12.37:g.49231066G>A			148	0	0		143	0.31	44	NM_004818	174	0.34	60	B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	CCDS8770.1																																																																																					0.507	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408897.2		NM_004818		A	49231066	G	A	49231066	2	1	40	1	0	0	0	0	0	0	0	1	4352	1219	43	3		3	DDX23	12	49231066	Silent	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	9495683	49231066	84620829	50	2853											
TROAP	10024	ucsc.edu	37	chr12	49718012	49718012	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaatgtcatctcgccAggtgccatggcttgtacctg	9	10	10	12	1	2	0	1	0	1	0	3	0	2	0	3	2	3	3	3	2	3	2			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr12:49718012A>G	ENST00000257909.3	+	3	413				TROAP_ENST00000548311.1_Splice_Site|TROAP_ENST00000549275.1_Silent_p.P54P|TROAP_ENST00000547923.1_5'Flank|TROAP_ENST00000550709.1_3'UTR|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000380327.5_Missense_Mutation_p.R138G|TROAP_ENST00000551245.1_Intron	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCATCTCgccaggtgccatgg	0.532																																					p.R138G													.	TROAP	80		0			c.A412G												51	52	52					12																	49718012		2102	4247	6349	SO:0001627	intron_variant	10024	exon4			CTCGCCAGGTGCC	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.337+192A>G	12.37:g.49718012A>G			208	0	0		166	0.01	1	NM_001100620	109	0.14	15	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	A	3.195	-0.164892	0.06502	.	.	ENSG00000135451	ENST00000380327	.	.	.	1.03	-2.05	0.07321	.	.	.	.	.	T	0.19604	0.0471	.	.	.	0.09310	N	1	B	0.31193	0.312	B	0.21708	0.036	T	0.16247	-1.0409	7	0.87932	D	0	.	1.4047	0.02278	0.4045:0.0:0.2673:0.3282	.	138	Q6PJU7	.	G	138	.	ENSP00000369684:R138G	R	+	1	2	TROAP	48004279	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.122000	0.10627	-0.791000	0.04486	0.260000	0.18958	AGG			0.532	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000404300.1		NM_005480		G	49718012	A	G	49718012	1	3	40	0	1	0	0	0	0	0	0	0	16599	179	7	4		4	TROAP	12	49718012	Intron	SNP	A	TCGA-2G-AAGW-01A-11D-A42Y-10	486946	49718012	84133883	51	2854											
RAB5B	5869	broad.mit.edu	37	chr12	56383797	56383797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgagatctgggacacagCtgggcaggagcgatatcaca	11	8	14	8	1	2	1	1	1	1	1	2	5	2	3	0	3	2	3	0	3	1	2			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr12:56383797C>T	ENST00000360299.5	+	3	451	c.230C>T	c.(229-231)gCt>gTt	p.A77V	RAB5B_ENST00000553116.1_Missense_Mutation_p.A77V|RAB5B_ENST00000448789.2_Missense_Mutation_p.A77V	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	77					antigen processing and presentation (GO:0019882)|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 (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TGGGACACAGCTGGGCAGGAG	0.502																																					p.A77V													.	RAB5B	22		0			c.C230T												161	134	143					12																	56383797		2203	4300	6503	SO:0001583	missense	5869	exon3			ACACAGCTGGGCA		CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"RAB, member RAS oncogene"	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.230C>T	12.37:g.56383797C>T	ENSP00000353444:p.Ala77Val		285	0	0		429	0.02	7	NM_002868	49	0	0	A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Missense_Mutation	SNP	ENST00000360299.5	37	CCDS8900.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292363	0.95546	.	.	ENSG00000111540	ENST00000553116;ENST00000360299;ENST00000548068;ENST00000551459;ENST00000448789	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	4.66	4.66	0.58398	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000012	D	0.96411	0.8829	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.99;0.994	D	0.97670	1.0166	10	0.87932	D	0	-6.5585	16.8397	0.85965	0.0:1.0:0.0:0.0	.	77;77	B4DKD7;P61020	.;RAB5B_HUMAN	V	77	ENSP00000450168:A77V;ENSP00000353444:A77V;ENSP00000447895:A77V;ENSP00000449554:A77V;ENSP00000391319:A77V	ENSP00000353444:A77V	A	+	2	0	RAB5B	54670064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.599000	0.87857	0.585000	0.79938	GCT			0.502	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405396.1				T	56383797	C	T	56383797	3	4	40	1	0	0	0	0	1	0	0	0	12972	797	28	2	236	2	RAB5B	12	56383797	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	6665785	56383797	77468098	52	2855											
CCDC64	92558	broad.mit.edu;bcgsc.ca	37	chr12	120427911	120427911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaccctcaggccgagcCtgggtctctggccgaggggg	6	5	17	13	2	2	0	1	0	1	0	3	3	2	1	4	6	2	0	4	6	1	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr12:120427911C>T	ENST00000397558.2	+	1	239	c.239C>T	c.(238-240)cCt>cTt	p.P80L		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	80				Missing (in Ref. 1; BAC85259). {ECO:0000305}.	Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGCCGAGCCTGGGTCTCTG	0.726																																					p.P80L													.	CCDC64	40		0			c.C239T												2	3	3					12																	120427911		1394	3370	4764	SO:0001583	missense	92558	exon1			CCGAGCCTGGGTC	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.239C>T	12.37:g.120427911C>T	ENSP00000380690:p.Pro80Leu		60	0.0166666667	1		74	0.31	23	NM_207311	2	1	2	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.17|11.17	1.560274|1.560274	0.27827|0.27827	.|.	.|.	ENSG00000135127|ENSG00000135127	ENST00000357093|ENST00000397558	.|T	.|0.31510	.|1.49	4.11|4.11	3.21|3.21	0.36854|0.36854	.|.	.|0.912281	.|0.08862	.|U	.|0.882936	.|T	.|0.17280	.|0.0415	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	.|T	.|0.04467	.|-1.0949	.|10	.|0.62326	.|D	.|0.03	.|5.0E-4	7.5743|7.5743	0.27926|0.27926	0.0:0.7364:0.1668:0.0968|0.0:0.7364:0.1668:0.0968	.|.	.|80	.|Q6ZP65	.|BICR1_HUMAN	.|L	-1|80	.|ENSP00000380690:P80L	.|ENSP00000380690:P80L	.|P	+|+	.|2	.|0	CCDC64|CCDC64	118912294|118912294	0.004000|0.004000	0.15560|0.15560	0.896000|0.896000	0.35187|0.35187	0.448000|0.448000	0.32197|0.32197	0.681000|0.681000	0.25320|0.25320	0.737000|0.737000	0.32582|0.32582	0.558000|0.558000	0.71614|0.71614	.|CCT			0.726	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000403390.2		NM_207311		T	120427911	C	T	120427911	3	4	40	1	0	0	0	0	1	0	0	0	2837	681	24	3	241	3	CCDC64	12	120427911	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	64044114	120427911	13423984	53	2856											
PARP4	143	mdanderson.org	37	chr13	25052312	25052312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttcagttaaggaaaaGtccttctcatgtaagtccat	11	13	9	8	0	2	0	2	0	1	0	5	1	4	1	2	2	1	3	2	2	4	4			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr13:25052312G>T	ENST00000381989.3	-	13	1656	c.1551C>A	c.(1549-1551)gaC>gaA	p.D517E		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	517	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTAAGGAAAAGTCCTTCTCAT	0.473																																					p.D517E													.	.			0			c.C1551A												110	90	97					13																	25052312		2203	4300	6503	SO:0001583	missense	143	exon13			GGAAAAGTCCTTC	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1551C>A	13.37:g.25052312G>T	ENSP00000371419:p.Asp517Glu		84	0	0		49	0.06	3	NM_006437	8	0	0	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210393	0.39003	.	.	ENSG00000102699	ENST00000381989	T	0.13901	2.55	3.91	2.65	0.31530	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.061993	0.64402	D	0.000008	T	0.31765	0.0807	M	0.75884	2.315	0.28209	N	0.927038	D	0.76494	0.999	D	0.85130	0.997	T	0.04509	-1.0946	10	0.72032	D	0.01	-8.559	7.0948	0.25303	0.2268:0.0:0.7732:0.0	.	517	Q9UKK3	PARP4_HUMAN	E	517	ENSP00000371419:D517E	ENSP00000371419:D517E	D	-	3	2	PARP4	23950312	1.000000	0.71417	0.436000	0.26797	0.195000	0.23768	0.920000	0.28705	0.872000	0.35775	0.644000	0.83932	GAC			0.473	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044189.1		NM_006437		T	25052312	G	T	25052312	3	4	40	1	0	0	0	0	1	0	0	0	11480	1020	36	3	3711	3	PARP4	13	25052312	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		25052312	90117566	54	2857											
MCF2L	23263	mdanderson.org	37	chr13	113718631	113718631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggtcataatgctgaGctccgtaccagacttacacg	10	9	8	14	2	1	2	1	1	0	1	3	2	3	2	4	1	4	3	4	1	3	3			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr13:113718631G>T	ENST00000375608.3	+	7	651	c.593G>T	c.(592-594)aGc>aTc	p.S198I	MCF2L_ENST00000397030.1_Missense_Mutation_p.S201I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S198I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S172I|MCF2L_ENST00000375597.4_Missense_Mutation_p.S166I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S168I|MCF2L_ENST00000423482.2_Missense_Mutation_p.S166I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S172I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S174I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S225I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	198	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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)				ATAATGCTGAGCTCCGTACCA	0.567																																					p.S168I													.	.			0			c.G503T												170	137	148					13																	113718631		2203	4300	6503	SO:0001583	missense	23263	exon6			TGCTGAGCTCCGT	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.593G>T	13.37:g.113718631G>T	ENSP00000364758:p.Ser198Ile		74	0	0		52	0.06	3	NM_001112732	5	0	0	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.	.	.	.	.	.	.	.	.	.	G	16.49	3.138263	0.56936	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000423251;ENST00000440749	T;T;T;T;T;T;T;T;T;T;T	0.61392	2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;0.11	5.26	5.26	0.73747	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.127500	0.64402	D	0.000001	T	0.72003	0.3407	M	0.66939	2.045	0.46564	D	0.999106	D;D;D;D;D;D	0.69078	0.996;0.996;0.996;0.993;0.996;0.997	D;D;D;D;D;D	0.70227	0.945;0.945;0.945;0.956;0.956;0.968	T	0.74844	-0.3526	10	0.87932	D	0	.	12.2614	0.54652	0.0777:0.0:0.9223:0.0	.	166;168;225;130;166;198	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	I	198;198;225;201;168;168;172;172;174;166;166;88;9	ENSP00000364758:S198I;ENSP00000401422:S198I;ENSP00000364754:S225I;ENSP00000380225:S201I;ENSP00000440374:S168I;ENSP00000397285:S172I;ENSP00000364751:S172I;ENSP00000407722:S174I;ENSP00000405639:S166I;ENSP00000364747:S166I;ENSP00000405996:S88I	ENSP00000364747:S166I	S	+	2	0	MCF2L	112766632	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	6.173000	0.71937	2.456000	0.83038	0.555000	0.69702	AGC			0.567	MCF2L-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000045849.4				T	113718631	G	T	113718631	3	4	40	1	0	0	0	0	1	0	0	0	9395	971	34	2	791	2	MCF2L	13	113718631	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	88666319	113718631	1451247	55	2858											
NFATC4	4776	broad.mit.edu	37	chr14	24841659	24841659	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacccaggacctctgccctAcccccactggactggcctct	6	7	7	21	0	2	0	0	0	2	0	2	2	2	2	7	3	2	0	7	3	1	1			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr14:24841659A>C	ENST00000250373.4	+	3	1350	c.1209A>C	c.(1207-1209)ctA>ctC	p.L403L	NFATC4_ENST00000556169.1_Silent_p.L391L|NFATC4_ENST00000554966.1_Silent_p.L416L|NFATC4_ENST00000554344.1_Silent_p.L333L|NFATC4_ENST00000413692.2_Silent_p.L466L|NFATC4_ENST00000556279.1_Silent_p.L435L|NFATC4_ENST00000554050.1_Silent_p.L403L|NFATC4_ENST00000539237.2_Silent_p.L435L|NFATC4_ENST00000554661.1_Silent_p.L333L|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000555453.1_Silent_p.L391L|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000553469.1_Silent_p.L435L|NFATC4_ENST00000557451.1_Silent_p.L333L|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000422617.3_Silent_p.L391L|NFATC4_ENST00000424781.2_Silent_p.L416L|NFATC4_ENST00000554591.1_Silent_p.L466L|NFATC4_ENST00000553879.1_Silent_p.L333L|NFATC4_ENST00000555590.1_Silent_p.L416L|NFATC4_ENST00000553708.1_Silent_p.L403L|NFATC4_ENST00000557767.1_5'Flank	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	403	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				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)		CCTCTGCCCTACCCCCACTGG	0.612																																					p.L466L													.	NFATC4	115		0			c.A1398C												46	50	48					14																	24841659		2203	4300	6503	SO:0001819	synonymous_variant	4776	exon4			TGCCCTACCCCCA	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.1209A>C	14.37:g.24841659A>C			59	0.1355932203	8		46	0.22	10	NM_001198967	1	1	1	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	Silent	SNP	ENST00000250373.4	37	CCDS9629.1																																																																																					0.612	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000073206.6		NM_004554		C	24841659	A	C	24841659	2	2	40	1	0	0	0	0	0	0	0	1	10382	378	14	4		4	NFATC4	14	24841659	Silent	SNP	A	TCGA-2G-AAGW-01A-11D-A42Y-10		24841659	82507881	56	2859											
ATXN3	4287	hgsc.bcm.edu	37	chr14	92537354	92537355	+	In_Frame_Ins	INS	-	-	CTGCTGCTGCTGCTGCTGCTG																															ctctgtcctgataggtccccINSctgctgctgctgctgctgct																								rs12895357	byFrequency	TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr14:92537354_92537355insCTGCTGCTGCTGCTGCTGCTG	ENST00000532032.1	-	10	924_925	c.915_916insCAGCAGCAGCAGCAGCAGCAG	c.(913-918)cagggg>cagCAGCAGCAGCAGCAGCAGCAGggg	p.304_305insQQQQQQQ	ATXN3_ENST00000340660.6_In_Frame_Ins_p.249_250insQQQQQQQ|ATXN3_ENST00000502250.1_In_Frame_Ins_p.125_126insQQQQQQQ|ATXN3_ENST00000503767.1_In_Frame_Ins_p.289_290insQQQQQQQ|ATXN3_ENST00000545170.1_In_Frame_Ins_p.313_314insQQQQQQQ|ATXN3_ENST00000393287.5_In_Frame_Ins_p.304_305insQQQQQQQ|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000429774.2_In_Frame_Ins_p.297_298insQQQQQQQ			P54252	ATX3_HUMAN	ataxin 3	304	Poly-Gln.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G306R(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GATAGGTCCCCctgctgctgct	0.446																																					p.G306delinsQQQQQQQG	Esophageal Squamous(190;752 2094 29897 44875 49530)												ATXN3,NS,carcinoma,0,7	ATXN3	46		1	Substitution - Missense(1)	lung(1)	c.916_917insCAGCAGCAGCAGCAGCAGCAG																																									SO:0001652	inframe_insertion	4287	exon10			GGTCCCCCTGCTG	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.895_915dupCAGCAGCAGCAGCAGCAGCAG	14.37:g.92537354_92537355insCTGCTGCTGCTGCTGCTGCTG	ENSP00000437157:p.Gln298_Gln304dup		83	0	0		60	0	0	NM_004993	53	0	0	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	In_Frame_Ins	INS	ENST00000532032.1	37																																																																																						0.446	ATXN3-015	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000388065.1		NM_004993		CTGCTGCTGCTGCTGCTGCTG	92537355	-	CTGCTGCTGCTGCTGCTGCTG	92537354	7	5	40	1	0	1	1	0	0	0	0	0	1213	623	22	0	177	0	ATXN3	14	92537354	In_Frame_Ins	INS	-	TCGA-2G-AAGW-01A-11D-A42Y-10	67695695	92537354	14812186	57	2860											
TBL3	10607	mdanderson.org	37	chr16	2024674	2024674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccacctccactctgctaGccacaggtagggccctgccg	7	6	9	19	1	1	0	0	0	1	0	2	0	2	0	7	2	3	2	7	2	2	2			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr16:2024674G>T	ENST00000568546.1	+	5	501	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	125					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CACTCTGCTAGCCACAGGTAG	0.662																																					p.A125S	Melanoma(118;616 1651 35077 38081 48633)												.	.			0			c.G373T												27	31	30					16																	2024674		2198	4297	6495	SO:0001583	missense	10607	exon5			CTGCTAGCCACAG	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.373G>T	16.37:g.2024674G>T	ENSP00000454836:p.Ala125Ser		49	0	0		33	0.09	3	NM_006453	72	0	0	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146066	0.94603	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.467502	0.24454	N	0.038387	D	0.83788	0.5330	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86500	0.1803	9	0.66056	D	0.02	-25.8239	17.2223	0.86961	0.0:0.0:1.0:0.0	.	125	Q12788	TBL3_HUMAN	S	125	.	ENSP00000331815:A125S	A	+	1	0	TBL3	1964675	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.375000	0.97178	2.301000	0.77427	0.561000	0.74099	GCC			0.662	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250615.3		NM_006453		T	2024674	G	T	2024674	3	4	40	1	0	0	0	0	1	0	0	0	15666	971	34	2	391	2	TBL3	16	2024674	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		2024674	88330079	58	2861											
FAM86A	196483	bcgsc.ca	37	chr16	5141852	5141852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcagggtctccgccagCgcttcatacagctcgtccaa	8	8	9	16	3	3	0	2	0	1	0	6	0	4	0	4	1	3	2	4	1	2	2	rs540885158	byFrequency	TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr16:5141852C>T	ENST00000427587.4	-	4	353	c.285G>A	c.(283-285)gcG>gcA	p.A95A	FAM86A_ENST00000458008.4_Intron|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	95						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TCTCCGCCAGCGCTTCATACA	0.577													c|||	30	0.00599042	0.0219	0.0014	5008	,	,		19555	0		0	False		,,,				2504	0				p.A95A													.	FAM86A	32		0			c.G285A												45	43	44					16																	5141852		2197	4300	6497	SO:0001819	synonymous_variant	196483	exon4			CGCCAGCGCTTCA	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.285G>A	16.37:g.5141852C>T			357	0.0140056022	5		236	0.1	23	NM_201400	23	0	0	D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	CCDS10529.1																																																																																					0.577	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251713.1		NM_201400		T	5141852	C	T	5141852	2	4	40	1	0	0	0	0	0	0	0	1	5656	755	27	1		1	FAM86A	16	5141852	Silent	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	3117178	5141852	85212901	59	2862											
SMPD3	55512	broad.mit.edu	37	chr16	68397765	68397767	+	In_Frame_Del	DEL	GTC	GTC	-																															gagtgttgctgctccagcttGtcgtctgtgcggggagggag																								rs372180117		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	GTC	GTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr16:68397765_68397767delGTC	ENST00000219334.5	-	6	2161_2163	c.1558_1560delGAC	c.(1558-1560)gacdel	p.D520del	SMPD3_ENST00000563226.1_In_Frame_Del_p.D520del|SMPD3_ENST00000568373.1_In_Frame_Del_p.D520del|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	520					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCTCCAGCTTGTCGTCTGTGCGG	0.66																																					p.520_520del													.	SMPD3	52		0			c.1558_1560del																																									SO:0001651	inframe_deletion	55512	exon6			CAGCTTGTCGTCT	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1558_1560delGAC	16.37:g.68397768_68397770delGTC	ENSP00000219334:p.Asp520del		30	0	0		27	0.3	8	NM_018667	0		0	B7ZL82|Q2M1S8	In_Frame_Del	DEL	ENST00000219334.5	37	CCDS10867.1																																																																																					0.66	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268895.3		NM_018667		-	68397767	GTC	-	68397765	7	5	40	1	0	1	0	1	0	0	0	0	14829	1368	48	0	423	0	SMPD3	16	68397765	In_Frame_Del	DEL	GTC	TCGA-2G-AAGW-01A-11D-A42Y-10	63255913	68397765	21956988	60	2863											
SLFN5	162394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33591734	33591734	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttttgaacctactgacAaataaacagtatgagttgct	14	12	9	6	0	0	3	0	3	0	0	0	4	0	3	1	1	4	4	1	1	6	6			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr17:33591734A>T	ENST00000299977.4	+	4	1819	c.1671A>T	c.(1669-1671)acA>acT	p.T557T	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	557					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACCTACTGACAAATAAACAGT	0.448																																					p.T557T													.	.			0			c.A1671T												137	134	135					17																	33591734		2203	4300	6503	SO:0001819	synonymous_variant	162394	exon4			ACTGACAAATAAA	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1671A>T	17.37:g.33591734A>T			135	0	0		126	0.13	17	NM_144975	1	0	0	Q08AF2|Q8WU54|Q96A82	Silent	SNP	ENST00000299977.4	37	CCDS32619.1																																																																																					0.448	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448649.2		NM_144975		T	33591734	A	T	33591734	2	4	40	1	0	0	0	0	0	0	0	1	14760	117	5	5		5	SLFN5	17	33591734	Silent	SNP	A	TCGA-2G-AAGW-01A-11D-A42Y-10		33591734	47603476	61	2864											
KCNH4	23415	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40323897	40323897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgggcaaggagcgcaaaGaccgacatgagcagcgtgag	13	3	16	9	3	0	3	0	2	0	1	0	5	0	4	1	2	3	3	1	2	2	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr17:40323897G>A	ENST00000264661.3	-	7	1436	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	KCNH4_ENST00000607371.1_Silent_p.V368V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	368					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGCGCAAAGACCGACATGA	0.617																																					p.V368V	NSCLC(117;707 1703 2300 21308 31858)												KCNH4,bladder,carcinoma,0,1	KCNH4	0	1	0			c.C1104T												97	79	85					17																	40323897		2203	4300	6503	SO:0001819	synonymous_variant	23415	exon7			CGCAAAGACCGAC	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1104C>T	17.37:g.40323897G>A			111	0	0		86	0.3	26	NM_012285	0		0		Silent	SNP	ENST00000264661.3	37	CCDS11420.1																																																																																					0.617	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449791.2		NM_012285		A	40323897	G	A	40323897	2	1	40	1	0	0	0	0	0	0	0	1	8049	929	33	3		3	KCNH4	17	40323897	Silent	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	6732163	40323897	40871313	62	2865											
GNAL	2774	broad.mit.edu	37	chr18	11824997	11824997	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccaacgaataccagctGattgactgtgcacaatagta	15	9	8	9	1	0	3	0	2	0	1	1	4	1	3	2	0	4	3	2	0	6	4			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr18:11824997G>T	ENST00000423027.3	+	5	795	c.474G>T	c.(472-474)ctG>ctT	p.L158L	GNAL_ENST00000535121.1_Silent_p.L158L|GNAL_ENST00000334049.6_Silent_p.L235L|GNAL_ENST00000269162.5_Silent_p.L158L|GNAL_ENST00000590972.1_3'UTR			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	158					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						AATACCAGCTGATTGACTGTG	0.413																																					p.L235L													.	GNAL	59		0			c.G705T												171	147	155					18																	11824997		2203	4300	6503	SO:0001819	synonymous_variant	2774	exon5			CCAGCTGATTGAC	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.474G>T	18.37:g.11824997G>T			130	0	0		64	0.05	3	NM_182978	20	0	0	B7ZA26|Q86XU3	Silent	SNP	ENST00000423027.3	37	CCDS11852.1																																																																																					0.413	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254561.2		NM_182978, NM_002071		T	11824997	G	T	11824997	2	4	40	1	0	0	0	0	0	0	0	1	6521	1277	45	3		3	GNAL	18	11824997	Silent	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		11824997	66252251	63	2866											
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	31324017	31324017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcagtgattctgtagCggtcacagactctctggttg	7	12	12	10	1	3	2	1	1	2	1	4	2	3	2	0	2	3	4	0	2	1	3			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr18:31324017C>T	ENST00000269197.5	+	12	4205	c.4205C>T	c.(4204-4206)gCg>gTg	p.A1402V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GATTCTGTAGCGGTCACAGAC	0.488											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1402V													.	.			0			c.C4205T												121	123	123					18																	31324017		1998	4160	6158	SO:0001583	missense	80816	exon12			CTGTAGCGGTCAC	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4205C>T	18.37:g.31324017C>T	ENSP00000269197:p.Ala1402Val		149	0	0	823	72	0.44	32	NM_030632	0		0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	2.906	-0.226524	0.06022	.	.	ENSG00000141431	ENST00000269197	T	0.16073	2.37	6.17	1.27	0.21489	.	.	.	.	.	T	0.10551	0.0258	L	0.27053	0.805	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.30909	-0.9962	9	0.37606	T	0.19	.	5.3566	0.16065	0.1245:0.5247:0.0:0.3508	.	1402	Q9C0F0	ASXL3_HUMAN	V	1402	ENSP00000269197:A1402V	ENSP00000269197:A1402V	A	+	2	0	ASXL3	29578015	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.307000	0.19296	0.149000	0.19098	-0.783000	0.03347	GCG			0.488	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441865.2				T	31324017	C	T	31324017	3	4	40	1	0	0	0	0	1	0	0	0	1068	768	27	1	4251	1	ASXL3	18	31324017	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	19499020	31324017	46753231	64	2867											
TSHZ1	10194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	72999575	72999575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatcatggaccactcacCggagccttccttcatcaacc	10	9	6	16	1	5	0	5	0	0	0	6	3	6	2	5	2	2	0	5	2	1	2	rs370322226		TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr18:72999575C>T	ENST00000580243.1	+	2	2561	c.2213C>T	c.(2212-2214)cCg>cTg	p.P738L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.P693L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	738					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GACCACTCACCGGAGCCTTCC	0.592																																					p.P693L													TSHZ1,NS,lymphoid_neoplasm,0,1	TSHZ1	0	1	0			c.C2078T							C	LEU/PRO	0,4406		0,0,2203	107	93	98		2078	5.1	0	18		98	2,8598	2.2+/-6.3	0,2,4298	no	missense	TSHZ1	NM_005786.4	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	693/1033	72999575	2,13004	2203	4300	6503	SO:0001583	missense	10194	exon2			ACTCACCGGAGCC	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2213C>T	18.37:g.72999575C>T	ENSP00000464391:p.Pro738Leu		46	0	0		32	0.25	8	NM_005786	2	0	0	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	C	6.156	0.397022	0.11638	0.0	2.33E-4	ENSG00000179981	ENST00000322038	T	0.61040	0.14	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	M	0.81341	2.54	0.36106	D	0.844503	D	0.89917	1.0	D	0.64506	0.926	T	0.72100	-0.4392	10	0.87932	D	0	-31.9241	18.5502	0.91062	0.0:1.0:0.0:0.0	.	738	Q6ZSZ6	TSH1_HUMAN	L	693	ENSP00000323584:P693L	ENSP00000323584:P693L	P	+	2	0	TSHZ1	71128563	1.000000	0.71417	0.015000	0.15790	0.093000	0.18481	7.426000	0.80270	-3.609000	0.00133	-1.267000	0.01435	CCG			0.592	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000444913.1		NM_005786		T	72999575	C	T	72999575	3	4	40	1	0	0	0	0	1	0	0	0	16647	652	23	1	2080	1	TSHZ1	18	72999575	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10	41675558	72999575	5077673	65	2868											
SAFB2	9667	mdanderson.org	37	chr19	5593989	5593989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcagctcctcgcgctcgCggtggatgcgctcctgctcc	2	8	13	18	6	0	0	0	0	0	0	5	1	3	1	4	2	3	5	4	2	0	0			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr19:5593989C>A	ENST00000252542.4	-	15	2384	c.2120G>T	c.(2119-2121)cGc>cTc	p.R707L		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	707	Arg-rich.|Glu-rich.|Interacts with SAFB1.				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)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTCGCGCTCGCGGTGGATGCG	0.751																																					p.R707L	Ovarian(127;888 1728 23957 44128 52668)												.	.			0			c.G2120T												6	6	6					19																	5593989		2060	4042	6102	SO:0001583	missense	9667	exon15			CGCTCGCGGTGGA	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2120G>T	19.37:g.5593989C>A	ENSP00000252542:p.Arg707Leu		16	0	0		10	0.2	2	NM_014649	67	0	0	B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679472	0.68042	.	.	ENSG00000130254	ENST00000252542	T	0.21191	2.02	4.46	4.46	0.54185	.	0.000000	0.51477	D	0.000085	T	0.40956	0.1138	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.15065	-1.0450	10	0.35671	T	0.21	-14.4668	17.1287	0.86721	0.0:1.0:0.0:0.0	.	707	Q14151	SAFB2_HUMAN	L	707	ENSP00000252542:R707L	ENSP00000252542:R707L	R	-	2	0	SAFB2	5544989	0.999000	0.42202	0.071000	0.20095	0.015000	0.08874	7.537000	0.82033	2.018000	0.59344	0.543000	0.68304	CGC			0.751	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451016.1		NM_014649		A	5593989	C	A	5593989	3	1	40	1	0	0	0	0	1	0	0	0	13830	768	27	1	769	1	SAFB2	19	5593989	Missense_Mutation	SNP	C	TCGA-2G-AAGW-01A-11D-A42Y-10		5593989	53534994	66	2869											
NOTCH3	4854	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	15299844	15299844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctatgcggtcgaggcacGtggcctggtttcggcagggc	4	8	18	11	4	0	0	0	0	0	0	2	1	0	0	2	7	1	3	2	7	1	2			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr19:15299844G>C	ENST00000263388.2	-	8	1409	c.1334C>G	c.(1333-1335)aCg>aGg	p.T445R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	445	EGF-like 11; calcium-binding. {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)			GTCGAGGCACGTGGCCTGGTT	0.657																																					p.T445R													.	NOTCH3	340		0			c.C1334G												36	30	32					19																	15299844		2203	4300	6503	SO:0001583	missense	4854	exon8			AGGCACGTGGCCT	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.1334C>G	19.37:g.15299844G>C	ENSP00000263388:p.Thr445Arg		103	0.0097087379	1		86	0.19	16	NM_000435	10	0.1	1	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513531	0.44763	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.92965	-3.14	4.92	3.87	0.44632	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.33199	N	0.005163	D	0.95188	0.8440	M	0.71296	2.17	0.58432	D	0.999993	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.996	D	0.95228	0.8340	10	0.72032	D	0.01	.	13.5553	0.61756	0.0:0.0:0.8429:0.1571	.	448;445	Q59FL3;Q9UM47	.;NOTC3_HUMAN	R	445;447	ENSP00000263388:T445R	ENSP00000263388:T445R	T	-	2	0	NOTCH3	15160844	1.000000	0.71417	0.915000	0.36163	0.006000	0.05464	9.655000	0.98512	1.061000	0.40601	-0.310000	0.09108	ACG			0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465714.1		NM_000435		C	15299844	G	C	15299844	3	2	40	1	0	0	0	0	1	0	0	0	10567	1145	40	5	5735	5	NOTCH3	19	15299844	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	9705855	15299844	43829139	67	2870											
ZNF536	9745	mdanderson.org	37	chr19	30934497	30934497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgagcctgtgccttggaGtgtcttcggcggagccggaa	7	8	16	10	4	1	0	0	0	1	0	2	4	1	3	3	4	4	0	3	4	2	2			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr19:30934497G>T	ENST00000355537.3	+	2	175	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	10					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTGCCTTGGAGTGTCTTCGGC	0.607																																					p.V10L													.	.			0			c.G28T												97	99	99					19																	30934497		2203	4300	6503	SO:0001583	missense	9745	exon2			CTTGGAGTGTCTT		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.28G>T	19.37:g.30934497G>T	ENSP00000347730:p.Val10Leu		75	0	0		31	0.1	3	NM_014717	0		0	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.473300	0.43942	.	.	ENSG00000198597	ENST00000355537	T	0.15139	2.45	5.16	4.13	0.48395	.	0.061458	0.64402	N	0.000004	T	0.31040	0.0784	L	0.32530	0.975	0.40759	D	0.982986	D;D	0.64830	0.994;0.994	D;D	0.72625	0.978;0.978	T	0.11941	-1.0567	10	0.66056	D	0.02	-17.726	15.5526	0.76164	0.0:0.0:0.8607:0.1393	.	10;10	A7E228;O15090	.;ZN536_HUMAN	L	10	ENSP00000347730:V10L	ENSP00000347730:V10L	V	+	1	0	ZNF536	35626337	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.575000	0.82447	1.335000	0.45486	-0.358000	0.07595	GTG			0.607	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459667.2		NM_014717		T	30934497	G	T	30934497	3	4	40	1	0	0	0	0	1	0	0	0	17997	1029	36	3	30	3	ZNF536	19	30934497	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10	15634653	30934497	28194486	68	2871											
RBCK1	10616	ucsc.edu;bcgsc.ca	37	chr20	409639	409639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgctgcccccagtgccaGatcgtggtacagaagaagga	11	6	13	11	2	0	3	0	0	0	3	1	4	0	4	3	2	4	2	3	2	3	1			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr20:409639G>T	ENST00000356286.5	+	11	2058	c.1353G>T	c.(1351-1353)caG>caT	p.Q451H	RBCK1_ENST00000382181.2_Missense_Mutation_p.Q281H|RBCK1_ENST00000353660.3_Missense_Mutation_p.Q409H	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	451					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|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)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q409Q(1)|p.Q451Q(1)		kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCCAGTGCCAGATCGTGGTAC	0.701																																					p.Q451H													RBCK1,NS,carcinoma,0,1	RBCK1	38	1	2	Substitution - coding silent(2)	lung(2)	c.G1353T												32	32	32					20																	409639		2203	4299	6502	SO:0001583	missense	10616	exon11			GTGCCAGATCGTG	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1353G>T	20.37:g.409639G>T	ENSP00000348632:p.Gln451His		73	0	0		38	0.11	4	NM_031229	49	0	0	O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717308	0.68844	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000382181	D;D;D	0.81659	-1.52;-1.52;-1.52	5.03	3.07	0.35406	Zinc finger, C6HC-type (1);	0.525058	0.20571	N	0.089737	T	0.76933	0.4057	N	0.17800	0.525	0.80722	D	1	D;P;B	0.64830	0.994;0.508;0.173	P;B;B	0.59595	0.86;0.404;0.421	T	0.73949	-0.3821	10	0.44086	T	0.13	-2.1427	8.2866	0.31932	0.0868:0.1586:0.7546:0.0	.	281;409;451	A6PVK0;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	H	451;409;281	ENSP00000348632:Q451H;ENSP00000254960:Q409H;ENSP00000371616:Q281H	ENSP00000254960:Q409H	Q	+	3	2	RBCK1	357639	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	1.148000	0.31614	0.705000	0.31890	0.650000	0.86243	CAG			0.701	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077461.3		NM_031229		T	409639	G	T	409639	3	4	40	1	0	0	0	0	1	0	0	0	13130	933	33	3	1414	3	RBCK1	20	409639	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		409639	62615881	69	2872											
TRMT6	51605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	5923280	5923280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggctctgaagataacaTcttggcagaaaatgttccat	12	14	8	7	0	2	3	0	1	2	2	3	3	3	3	1	2	1	3	1	2	4	5			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr20:5923280T>C	ENST00000203001.2	-	7	950	c.820A>G	c.(820-822)Atg>Gtg	p.M274V	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.M104V	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	274					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						GAAGATAACATCTTGGCAGAA	0.408																																					p.M274V													.	.			0			c.A820G												141	139	140					20																	5923280		2203	4300	6503	SO:0001583	missense	51605	exon7			ATAACATCTTGGC	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.820A>G	20.37:g.5923280T>C	ENSP00000203001:p.Met274Val		208	0	0		116	0.64	74	NM_015939	57	0.49	28	B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	T	8.061	0.768038	0.15983	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.20738	2.05;2.05	6.17	2.0	0.26442	.	0.366396	0.30134	N	0.010337	T	0.10551	0.0258	N	0.14661	0.345	0.24525	N	0.994142	B;B	0.12013	0.005;0.003	B;B	0.14578	0.011;0.008	T	0.33369	-0.9871	10	0.16420	T	0.52	-2.7143	9.6518	0.39902	0.0:0.4018:0.0:0.5982	.	104;274	B4DUV6;Q9UJA5	.;TRM6_HUMAN	V	274;104	ENSP00000203001:M274V;ENSP00000392070:M104V	ENSP00000203001:M274V	M	-	1	0	TRMT6	5871280	0.995000	0.38212	0.990000	0.47175	0.984000	0.73092	0.798000	0.27014	0.476000	0.27440	0.533000	0.62120	ATG			0.408	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077889.2				C	5923280	T	C	5923280	3	2	40	1	0	0	0	0	1	0	0	0	16592	1435	50	4	693	4	TRMT6	20	5923280	Missense_Mutation	SNP	T	TCGA-2G-AAGW-01A-11D-A42Y-10	5513641	5923280	57102240	70	2873											
C22orf25	128989	bcgsc.ca	37	chr22	20030887	20030887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgcaggctcatcttGgcagccaacagggatgaatt	9	11	10	11	0	3	1	1	1	2	0	4	2	4	2	2	3	3	3	2	3	2	3			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chr22:20030887G>T	ENST00000327374.4	+	3	244	c.66G>T	c.(64-66)ttG>ttT	p.L22F	TANGO2_ENST00000447208.2_Missense_Mutation_p.L22F|TANGO2_ENST00000398042.2_Missense_Mutation_p.L22F|TANGO2_ENST00000401886.1_Missense_Mutation_p.L22F|TANGO2_ENST00000434570.2_Missense_Mutation_p.L63F|TANGO2_ENST00000456048.1_Missense_Mutation_p.L27F|TANGO2_ENST00000432883.1_Missense_Mutation_p.L22F|TANGO2_ENST00000401833.1_Missense_Mutation_p.L63F|TANGO2_ENST00000420290.2_5'UTR|TANGO2_ENST00000479679.1_3'UTR	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	22																	GGCTCATCTTGGCAGCCAACA	0.512																																					p.L22F													.	TANGO2	4		0			c.G66T												130	132	132					22																	20030887		2203	4300	6503	SO:0001583	missense	128989	exon3			CATCTTGGCAGCC		CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 25"	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.66G>T	22.37:g.20030887G>T	ENSP00000332721:p.Leu22Phe		96	0	0		61	0.08	5	NM_152906	10	0	0	A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Missense_Mutation	SNP	ENST00000327374.4	37	CCDS13772.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376037	0.61735	.	.	ENSG00000183597	ENST00000401886;ENST00000432198;ENST00000447208;ENST00000398042;ENST00000450664;ENST00000327374;ENST00000432883;ENST00000401833;ENST00000434168;ENST00000434570;ENST00000456048	T;T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	4.89	1.42	0.22433	.	0.000000	0.64402	D	0.000003	T	0.55721	0.1938	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.994;0.998;0.999;0.998;0.997	D;D;D;D;D;D;D	0.79784	0.988;0.993;0.954;0.98;0.989;0.979;0.943	T	0.51857	-0.8652	10	0.62326	D	0.03	-12.8091	3.1747	0.06564	0.4773:0.218:0.3047:0.0	.	22;63;22;63;22;22;22	B7Z9Q5;B7Z730;B7Z4A5;B7WNV6;Q6AHY1;Q6ICL3;Q6ICL3-2	.;.;.;.;.;CV025_HUMAN;.	F	22;22;22;22;22;22;22;63;22;63;27	ENSP00000385662:L22F;ENSP00000413850:L22F;ENSP00000389797:L22F;ENSP00000381122:L22F;ENSP00000415450:L22F;ENSP00000332721:L22F;ENSP00000402926:L22F;ENSP00000384827:L63F;ENSP00000411602:L22F;ENSP00000391262:L63F;ENSP00000403645:L27F	ENSP00000332721:L22F	L	+	3	2	C22orf25	18410887	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	3.826000	0.55738	0.107000	0.17824	-0.258000	0.10820	TTG			0.512	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318689.2		NM_152906		T	20030887	G	T	20030887	3	4	40	1	0	0	0	0	1	0	0	0	2141	1339	47	3	72	3	C22orf25	22	20030887	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		20030887	31273679	71	2874											
FLNA	2316	broad.mit.edu;mdanderson.org	37	chrX	153589789	153589789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcacggggcaggaagcGcaccacactgttgtcagccc	8	7	11	15	2	2	0	2	0	0	0	3	1	3	1	3	3	2	3	3	3	1	2			TCGA-2G-AAGW-01A-11D-A42Y-10	TCGA-2G-AAGW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fc9dbc-9462-4d14-ab52-51016b37351f	ec835e9e-7490-4325-8e2d-0823a9bfd9be	g.chrX:153589789G>A	ENST00000369850.3	-	21	3330	c.3094C>T	c.(3094-3096)Cgc>Tgc	p.R1032C	FLNA_ENST00000422373.1_Missense_Mutation_p.R1032C|FLNA_ENST00000344736.4_Missense_Mutation_p.R1032C|FLNA_ENST00000360319.4_Missense_Mutation_p.R1032C	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1032					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)					GGCAGGAAGCGCACCACACTG	0.657																																					p.R1032C													.	FLNA	373		0			c.C3094T												64	67	66					X																	153589789		2127	4212	6339	SO:0001583	missense	0	exon21			GGAAGCGCACCAC	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.3094C>T	X.37:g.153589789G>A	ENSP00000358866:p.Arg1032Cys		66	0	0		80	0.05	4	NM_001456	111	0	0	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873776	0.72180	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.51	4.57	0.56435	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.071450	0.48767	D	0.000175	D	0.90998	0.7169	M	0.88241	2.94	0.80722	D	1	D;P	0.67145	0.996;0.952	P;P	0.57846	0.828;0.773	D	0.92051	0.5648	10	0.87932	D	0	.	10.1813	0.42970	0.0:0.0:0.5127:0.4873	.	1032;1032	P21333-2;P21333	.;FLNA_HUMAN	C	1032;1005;1032;1032;1032	ENSP00000353467:R1032C;ENSP00000416926:R1032C;ENSP00000358866:R1032C;ENSP00000358863:R1032C	ENSP00000358863:R1032C	R	-	1	0	FLNA	153242983	0.309000	0.24518	1.000000	0.80357	0.800000	0.45204	2.947000	0.49058	2.313000	0.78055	0.523000	0.50628	CGC			0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058942.3				A	153589789	G	A	153589789	3	1	40	1	0	0	0	0	1	0	0	0	5946	1087	38	1	4961	1	FLNA	23	153589789	Missense_Mutation	SNP	G	TCGA-2G-AAGW-01A-11D-A42Y-10		153589789	1680771	72	2875											
CCNL2	81669	broad.mit.edu	37	chr1	1334663	1334664	+	In_Frame_Ins	INS	-	-	GCCGCC																															ctgccgaccctgcagcaccaINSgccgccgccgccgccgccgc																										TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:1334663_1334664insGCCGCC	ENST00000400809.3	-	1	28_29	c.23_24insGGCGGC	c.(22-24)gct>gcGGCGGCt	p.8_8A>AAA	MRPL20_ENST00000493287.1_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408918.4_In_Frame_Ins_p.8_8A>AAA|RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408952.5_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	8					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTGCAGCACCAgccgccgccgc	0.767																																					p.A8delinsAAA													CCNL2,brain,glioma,-2,1	CCNL2	54	1	0			c.24_25insGGCGGC																																									SO:0001652	inframe_insertion	81669	exon1			AGCACCAGCCGCC	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.18_23dupGGCGGC	1.37:g.1334664_1334669dupGCCGCC	ENSP00000383611:p.AlaAla8dup		24	0	0		31	0.23	7	NM_030937	6	0	0	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	In_Frame_Ins	INS	ENST00000400809.3	37	CCDS30557.1																																																																																					0.767	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008146.2		NM_030937		GCCGCC	1334664	-	GCCGCC	1334663	7	5	41	1	0	1	1	0	0	0	0	0	2934	175	7	0	1608	0	CCNL2	1	1334663	In_Frame_Ins	INS	-	TCGA-2G-AAGX-01A-11D-A42Y-10		1334663	247915958	1	2876											
NPHP4	261734	broad.mit.edu;mdanderson.org	37	chr1	5935039	5935039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcgtggcgtggagcGtgtgctccgtggtgatggcc	3	8	17	13	4	0	1	0	1	0	0	1	2	1	2	4	4	3	1	4	4	0	0	rs199645515		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:5935039G>A	ENST00000378156.4	-	21	3204	c.2939C>T	c.(2938-2940)aCg>aTg	p.T980M	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	980					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGTGGAGCGTGTGCTCCGT	0.627																																					p.T980M													.	NPHP4	119		0			c.C2939T												75	95	88					1																	5935039		2187	4271	6458	SO:0001583	missense	261734	exon21			TGGAGCGTGTGCT	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2939C>T	1.37:g.5935039G>A	ENSP00000367398:p.Thr980Met		36	0	0		63	0.08	5	NM_015102	26	0	0	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	g	16.54	3.152370	0.57259	.	.	ENSG00000131697	ENST00000378156	D	0.88818	-2.43	4.88	4.88	0.63580	.	0.159288	0.43579	D	0.000554	D	0.94328	0.8177	M	0.77103	2.36	0.44531	D	0.997489	D	0.89917	1.0	D	0.91635	0.999	D	0.95013	0.8153	10	0.72032	D	0.01	.	17.0635	0.86553	0.0:0.0:1.0:0.0	.	980	O75161	NPHP4_HUMAN	M	980	ENSP00000367398:T980M	ENSP00000367398:T980M	T	-	2	0	NPHP4	5857626	1.000000	0.71417	0.914000	0.36105	0.200000	0.23975	5.177000	0.65032	2.272000	0.75746	0.550000	0.68814	ACG			0.627	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001715.2				A	5935039	G	A	5935039	3	1	41	1	0	0	0	0	1	0	0	0	10598	1145	40	1	1381	1	NPHP4	1	5935039	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	4600376	5935039	243315582	2	2877											
C1orf135	79000	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	26162011	26162013	+	In_Frame_Del	DEL	AAG	AAG	-																															ttcctttcggtctagcaaacAagaactttccaagtcctcgg																										TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	AAG	AAG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:26162011_26162013delAAG	ENST00000374298.3	-	3	599_601	c.545_547delCTT	c.(544-549)tcttgt>tgt	p.S182del	AUNIP_ENST00000538789.1_In_Frame_Del_p.S182del|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	182					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											TCTAGCAAACAAGAACTTTCCAA	0.448																																					p.182_183del													.	AUNIP	1		0			c.546_548del																																									SO:0001651	inframe_deletion	79000	exon3			GCAAACAAGAACT		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 135"	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.545_547delCTT	1.37:g.26162011_26162013delAAG	ENSP00000363416:p.Ser182del		178	0	0		188	0.25	47	NM_024037	19	0	0	C9EI59|Q53F70	In_Frame_Del	DEL	ENST00000374298.3	37	CCDS266.1																																																																																					0.448	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019309.2		NM_024037		-	26162013	AAG	-	26162011	7	5	41	1	0	1	0	1	0	0	0	0	2001	130	5	0	530	0	C1orf135	1	26162011	In_Frame_Del	DEL	AAG	TCGA-2G-AAGX-01A-11D-A42Y-10	20226972	26162011	223088610	3	2878											
GMEB1	10691	broad.mit.edu	37	chr1	29018151	29018151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgcttaccccataacttGtggggagagcaaagccatcc	12	9	9	11	0	0	1	0	0	0	1	1	2	1	1	4	2	5	2	4	2	4	4			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:29018151G>T	ENST00000294409.2	+	4	386	c.296G>T	c.(295-297)tGt>tTt	p.C99F	SCARNA24_ENST00000516968.1_RNA|GMEB1_ENST00000373816.1_Missense_Mutation_p.C89F|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.C89F	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	99	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATAACTTGTGGGGAGAGC	0.393																																					p.C99F													.	GMEB1	28		0			c.G296T												134	122	126					1																	29018151		2203	4300	6503	SO:0001583	missense	10691	exon4			TAACTTGTGGGGA	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.296G>T	1.37:g.29018151G>T	ENSP00000294409:p.Cys99Phe		102	0.0098039216	1		90	0.03	3	NM_006582	11	0	0	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	CCDS327.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332360	0.81801	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	D;D;D	0.87729	-2.29;-2.29;-2.29	5.07	5.07	0.68467	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.91818	3.245	0.50313	D	0.999865	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.995	D	0.95920	0.8930	10	0.87932	D	0	-0.232	17.2019	0.86908	0.0:0.0:1.0:0.0	.	99;89	Q9Y692;B1AT47	GMEB1_HUMAN;.	F	89;65;89;99	ENSP00000362922:C89F;ENSP00000355186:C89F;ENSP00000294409:C99F	ENSP00000294409:C99F	C	+	2	0	GMEB1	28890738	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.350000	0.79820	0.585000	0.79938	TGT			0.393	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000010333.1		NM_006582		T	29018151	G	T	29018151	3	4	41	1	0	0	0	0	1	0	0	0	6501	1377	48	3	306	3	GMEB1	1	29018151	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	2856140	29018151	220232470	4	2879											
GRIK3	2899	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	37325605	37325605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggtagggctccaggtctAaagcgtagagatcctggata	11	8	14	8	2	1	1	0	0	1	1	3	3	3	2	2	4	2	3	2	4	5	4			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:37325605A>G	ENST00000373091.3	-	6	816	c.800T>C	c.(799-801)tTa>tCa	p.L267S	GRIK3_ENST00000462621.1_5'Flank|GRIK3_ENST00000373093.4_Missense_Mutation_p.L267S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	267					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)				CTCCAGGTCTAAAGCGTAGAG	0.562																																					p.L267S													.	GRIK3	195		0			c.T800C												89	94	93					1																	37325605		2203	4300	6503	SO:0001583	missense	2899	exon6			AGGTCTAAAGCGT	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.800T>C	1.37:g.37325605A>G	ENSP00000362183:p.Leu267Ser		93	0.0107526882	1		123	0.35	43	NM_000831	6	0.5	3	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.235057	0.58886	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.24538	1.85;1.85	5.81	4.67	0.58626	Extracellular ligand-binding receptor (1);	0.161857	0.43260	D	0.000581	T	0.48040	0.1478	M	0.83118	2.625	0.38738	D	0.95381	P;P	0.38473	0.633;0.633	P;P	0.52031	0.688;0.688	T	0.55127	-0.8189	10	0.87932	D	0	.	12.2789	0.54753	0.8727:0.0:0.0:0.1272	.	267;267	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	267	ENSP00000362183:L267S;ENSP00000362185:L267S	ENSP00000362183:L267S	L	-	2	0	GRIK3	37098192	0.998000	0.40836	0.684000	0.30055	0.465000	0.32709	8.962000	0.93254	1.000000	0.39049	0.533000	0.62120	TTA			0.562	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012053.1		NM_000831		G	37325605	A	G	37325605	3	3	41	1	0	0	0	0	1	0	0	0	6790	372	13	4	2003	4	GRIK3	1	37325605	Missense_Mutation	SNP	A	TCGA-2G-AAGX-01A-11D-A42Y-10	8307454	37325605	211925016	5	2880											
SPTA1	6708	mdanderson.org	37	chr1	158609464	158609464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgatctttcatggccaGcaatgtctctgcctggaaat	8	12	10	11	0	3	1	1	1	2	0	4	2	3	2	3	3	2	1	3	3	2	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:158609464G>T	ENST00000368147.4	-	35	5068	c.4888C>A	c.(4888-4890)Ctg>Atg	p.L1630M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1630					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)					TTCATGGCCAGCAATGTCTCT	0.463																																					p.L1630M													.	.			0			c.C4888A												130	119	123					1																	158609464		1889	4124	6013	SO:0001583	missense	6708	exon35			TGGCCAGCAATGT	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.4888C>A	1.37:g.158609464G>T	ENSP00000357129:p.Leu1630Met		118	0	0		113	0.04	5	NM_003126	1	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754634	0.69648	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61742	0.08;0.08	5.35	4.42	0.53409	.	0.000000	0.26669	N	0.023101	T	0.61974	0.2390	M	0.64080	1.96	0.45502	D	0.998461	D	0.89917	1.0	D	0.97110	1.0	T	0.63033	-0.6727	10	0.38643	T	0.18	.	10.6842	0.45833	0.1568:0.0:0.8432:0.0	.	1630	P02549	SPTA1_HUMAN	M	1630	ENSP00000357130:L1630M;ENSP00000357129:L1630M	ENSP00000357129:L1630M	L	-	1	2	SPTA1	156876088	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	4.065000	0.57513	1.596000	0.50062	0.655000	0.94253	CTG			0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051851.3		NM_003126		T	158609464	G	T	158609464	3	4	41	1	0	0	0	0	1	0	0	0	15139	962	34	2	2443	2	SPTA1	1	158609464	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	121283859	158609464	90641157	6	2881											
FMN2	56776	broad.mit.edu	37	chr1	240371517	240371517	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccccctcctccccctctTcccggagcgggcatacctcc	5	8	6	22	2	1	0	0	0	1	0	5	1	5	1	8	2	3	1	8	2	2	3	rs369474345		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:240371517T>A	ENST00000319653.9	+	5	3635	c.3405T>A	c.(3403-3405)ctT>ctA	p.L1135L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1135	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCCCTCTTCCCGGAGCGG	0.706																																					p.L1135L													FMN2,NS,carcinoma,+2,1	FMN2	451	1	0			c.T3405A							T		30,4102		0,30,2036	6	8	7		3405	-6.6	0	1		7	19,8117		0,19,4049	no	coding-synonymous	FMN2	NM_020066.4		0,49,6085	AA,AT,TT		0.2335,0.726,0.3994		1135/1723	240371517	49,12219	2066	4068	6134	SO:0001819	synonymous_variant	56776	exon5			CCCTCTTCCCGGA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3405T>A	1.37:g.240371517T>A			63	0.0476190476	3		73	0.08	6	NM_020066	0		0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																					0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		A	240371517	T	A	240371517	2	1	41	1	0	0	0	0	0	0	0	1	5963	1770	62	5		5	FMN2	1	240371517	Silent	SNP	T	TCGA-2G-AAGX-01A-11D-A42Y-10	81762053	240371517	8879104	7	2882											
ADSS	159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	244601040	244601040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatattccacagaatccaCaacaactgtatggccagcat	15	9	5	12	0	1	1	1	0	0	1	3	1	3	1	3	1	3	2	3	1	5	3			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:244601040C>T	ENST00000366535.3	-	2	530	c.214G>A	c.(214-216)Gtg>Atg	p.V72M		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)			ACAGAATCCACAACAACTGTA	0.363																																					p.V72M													.	.			0			c.G214A												145	157	153					1																	244601040		2203	4300	6503	SO:0001583	missense	159	exon2			AATCCACAACAAC	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.214G>A	1.37:g.244601040C>T	ENSP00000355493:p.Val72Met		116	0	0		86	0.37	32	NM_001126	72	0.24	17		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973285	0.92919	.	.	ENSG00000035687	ENST00000366535;ENST00000449326;ENST00000430700	T	0.47869	0.83	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.82372	-0.0490	10	0.87932	D	0	-15.668	18.6426	0.91400	0.0:1.0:0.0:0.0	.	72	P30520	PURA2_HUMAN	M	72;51;12	ENSP00000355493:V72M	ENSP00000355493:V72M	V	-	1	0	ADSS	242667663	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.189000	0.77747	2.689000	0.91719	0.591000	0.81541	GTG			0.363	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096697.1		NM_001126		T	244601040	C	T	244601040	3	4	41	1	0	0	0	0	1	0	0	0	347	478	17	3	1204	3	ADSS	1	244601040	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	4229523	244601040	4649581	8	2883											
FBXO41	150726	mdanderson.org	37	chr2	73496315	73496315	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgggatctcgatctcGcgcagcgcatagcgcgctgc	6	6	13	16	7	2	0	0	0	2	0	4	2	2	1	1	1	4	3	1	1	1	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr2:73496315G>T	ENST00000521871.1	-	2	859	c.444C>A	c.(442-444)cgC>cgA	p.R148R	FBXO41_ENST00000520530.2_Silent_p.R148R|FBXO41_ENST00000520186.1_5'Flank|FBXO41_ENST00000295133.5_Silent_p.R209R			Q8TF61	FBX41_HUMAN	F-box protein 41	148										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCTCGATCTCGCGCAGCGCAT	0.756																																					p.R148R													.	.			0			c.C444A												1	2	2					2																	73496315		1006	2099	3105	SO:0001819	synonymous_variant	150726	exon1			GATCTCGCGCAGC	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.444C>A	2.37:g.73496315G>T			19	0	0		22	0.09	2	NM_001080410	1	0	0	G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	CCDS46337.2																																																																																					0.756	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377381.1				T	73496315	G	T	73496315	2	4	41	1	0	0	0	0	0	0	0	1	5763	1074	38	1		1	FBXO41	2	73496315	Silent	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10		73496315	169703058	9	2884											
SNRK	54861	mdanderson.org	37	chr3	43345230	43345230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacaagctgtggatctcttGcatattccgctccagaaatt	10	13	7	11	1	1	1	0	0	1	1	4	2	3	2	2	1	3	3	2	1	4	5			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr3:43345230G>T	ENST00000296088.7	+	3	839	c.535G>T	c.(535-537)Gca>Tca	p.A179S	SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000429705.2_Missense_Mutation_p.A179S|SNRK_ENST00000454177.1_Missense_Mutation_p.A179S|SNRK_ENST00000437827.1_Intron	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)		TGGATCTCTTGCATATTCCGC	0.438																																					p.A179S													.	.			0			c.G535T												129	122	124					3																	43345230		1887	4121	6008	SO:0001583	missense	54861	exon3			TCTCTTGCATATT	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.535G>T	3.37:g.43345230G>T	ENSP00000296088:p.Ala179Ser		137	0.0072992701	1		140	0.04	5	NM_017719	39	0	0		Missense_Mutation	SNP	ENST00000296088.7	37	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006800	0.93287	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	T;T;T	0.65364	-0.15;-0.15;-0.15	5.58	5.58	0.84498	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	0.63721	0.2535	N	0.05619	-0.0049999999999999	0.80722	D	1	P;D	0.64830	0.633;0.994	B;D	0.64687	0.221;0.928	T	0.72323	-0.4328	10	0.72032	D	0.01	.	19.5567	0.95351	0.0:0.0:1.0:0.0	.	179;179	Q9NRH2-2;Q9NRH2	.;SNRK_HUMAN	S	179	ENSP00000401246:A179S;ENSP00000411375:A179S;ENSP00000296088:A179S	ENSP00000296088:A179S	A	+	1	0	SNRK	43320234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.615000	0.88500	0.655000	0.94253	GCA			0.438	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344325.1		NM_017719		T	43345230	G	T	43345230	3	4	41	1	0	0	0	0	1	0	0	0	14874	1319	46	2	537	2	SNRK	3	43345230	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10		43345230	154677200	10	2885											
CDHR4	389118	mdanderson.org	37	chr3	49830732	49830732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcacactcgggggcatGgtcattcacatcctgcagaa	9	8	12	12	1	3	1	3	0	0	1	5	1	4	1	1	4	1	3	1	4	1	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr3:49830732G>T	ENST00000412678.2	-	13	1644	c.1636C>A	c.(1636-1638)Cat>Aat	p.H546N	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	546	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)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TCGGGGGCATGGTCATTCACA	0.567																																					p.H546N													.	.			0			c.C1636A												56	59	58					3																	49830732		692	1591	2283	SO:0001583	missense	389118	exon13			GGGCATGGTCATT		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"Cadherins / Cadherin-related"	34527	protein-coding gene	gene with protein product			"cadherin-like 29"	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.1636C>A	3.37:g.49830732G>T	ENSP00000391409:p.His546Asn		33	0	0		44	0.07	3	NM_001007540	11	0	0	Q6UXT0	Missense_Mutation	SNP	ENST00000412678.2	37	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	G	5.658	0.306047	0.10733	.	.	ENSG00000187492	ENST00000412678	T	0.12569	2.67	5.78	3.8	0.43715	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.03390	0.0098	N	0.00811	-1.165	0.80722	D	1	B	0.18013	0.025	B	0.15870	0.014	T	0.33523	-0.9865	8	.	.	.	.	5.8779	0.18838	0.0974:0.0:0.6355:0.267	.	546	A6H8M9	CDHR4_HUMAN	N	546	ENSP00000391409:H546N	.	H	-	1	0	CDHR4	49805736	0.921000	0.31238	0.612000	0.29024	0.707000	0.40811	0.594000	0.24014	1.376000	0.46267	-0.355000	0.07637	CAT			0.567	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350387.1		NM_001007540		T	49830732	G	T	49830732	3	4	41	1	0	0	0	0	1	0	0	0	3123	1348	47	3	758	3	CDHR4	3	49830732	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	6485502	49830732	148191698	11	2886											
UGT2A3	79799	mdanderson.org	37	chr4	69817391	69817391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaatggctcatgtcacaggGccacaccaggactttcccac	10	7	8	16	0	2	0	2	0	0	0	3	1	3	1	4	3	0	1	4	3	1	1	rs535874025		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr4:69817391G>A	ENST00000251566.4	-	1	118	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	30					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATGTCACAGGGCCACACCAGG	0.488																																					p.P30S													.	.			0			c.C88T												73	70	71					4																	69817391		2203	4300	6503	SO:0001583	missense	79799	exon1			CACAGGGCCACAC		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.88C>T	4.37:g.69817391G>A	ENSP00000251566:p.Pro30Ser		38	0	0		51	0.06	3	NM_024743	5	0	0	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661176	0.67700	.	.	ENSG00000135220	ENST00000251566	T	0.65178	-0.14	4.61	4.61	0.57282	.	0.168897	0.41500	D	0.000864	T	0.80686	0.4670	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84050	0.0369	10	0.72032	D	0.01	.	14.9692	0.71220	0.0:0.0:1.0:0.0	.	30	Q6UWM9	UD2A3_HUMAN	S	30	ENSP00000251566:P30S	ENSP00000251566:P30S	P	-	1	0	UGT2A3	69851980	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	2.437000	0.44828	2.397000	0.81536	0.491000	0.48974	CCC			0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251564.1		NM_024743		A	69817391	G	A	69817391	3	1	41	1	0	0	0	0	1	0	0	0	16979	1203	42	2	1519	2	UGT2A3	4	69817391	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10		69817391	121336885	12	2887											
NSD1	64324	mdanderson.org	37	chr5	176721079	176721079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccaagcactcacctggCagagcaatcaacaggaatgg	14	4	12	11	0	2	1	2	0	0	1	2	2	2	2	2	4	3	3	2	4	4	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr5:176721079C>T	ENST00000439151.2	+	23	6755	c.6710C>T	c.(6709-6711)gCa>gTa	p.A2237V	NSD1_ENST00000361032.4_Missense_Mutation_p.A2134V|NSD1_ENST00000347982.4_Missense_Mutation_p.A1968V|NSD1_ENST00000354179.4_Missense_Mutation_p.A1968V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2237	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)		ACTCACCTGGCAGAGCAATCA	0.572			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.A2237V				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.			0			c.C6710T												75	74	74					5																	176721079		2203	4300	6503	SO:0001583	missense	64324	exon23	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	ACCTGGCAGAGCA	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.6710C>T	5.37:g.176721079C>T	ENSP00000395929:p.Ala2237Val		69	0	0		46	0.07	3	NM_022455	62	0	0	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644981	0.29246	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.31	3.53	0.40419	.	0.536086	0.18450	N	0.140847	T	0.63414	0.2509	N	0.19112	0.55	0.31393	N	0.677557	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.62324	-0.6878	10	0.48119	T	0.1	.	10.8199	0.46599	0.1299:0.8019:0.0:0.0682	.	1968;2237	Q96L73-2;Q96L73	.;NSD1_HUMAN	V	1968;2237;1968;2134	ENSP00000346111:A1968V;ENSP00000395929:A2237V;ENSP00000343209:A1968V;ENSP00000354310:A2134V	ENSP00000343209:A1968V	A	+	2	0	NSD1	176653685	0.667000	0.27484	0.973000	0.42090	0.656000	0.38851	1.820000	0.39032	0.790000	0.33803	0.655000	0.94253	GCA			0.572	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253412.2		NM_172349		T	176721079	C	T	176721079	3	4	41	1	0	0	0	0	1	0	0	0	10686	710	25	2	6796	2	NSD1	5	176721079	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10		176721079	4194181	13	2888											
PRR7	80758	mdanderson.org	37	chr5	176882733	176882733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccactccgcagcggaatcgGacatgtccaaaccaccgtgt	10	6	9	16	4	0	0	0	0	0	0	3	2	2	2	5	2	2	1	5	2	2	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr5:176882733G>T	ENST00000323249.3	+	4	926	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	PRR7_ENST00000502922.1_Missense_Mutation_p.D146Y|PRR7_ENST00000510492.1_Missense_Mutation_p.D146Y	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	146	Pro-rich.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGAATCGGACATGTCCAA	0.711																																					p.D146Y													.	.			0			c.G436T												8	10	9					5																	176882733		1991	4006	5997	SO:0001583	missense	80758	exon3			GAATCGGACATGT	BC021240	CCDS4419.1	5q35.3	2005-01-20			ENSG00000131188	ENSG00000131188			28130	protein-coding gene	gene with protein product						15629447	Standard	NM_030567		Approved	MGC10772	uc003mgw.2	Q8TB68	OTTHUMG00000130861	ENST00000323249.3:c.436G>T	5.37:g.176882733G>T	ENSP00000327168:p.Asp146Tyr		52	0	0		45	0.07	3	NM_001174102	11	0	0	Q8WU53|Q9BTA7	Missense_Mutation	SNP	ENST00000323249.3	37	CCDS4419.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838178	0.71373	.	.	ENSG00000131188	ENST00000507881;ENST00000323249;ENST00000502922;ENST00000510492;ENST00000355386	T;T;T;T	0.62364	0.15;0.03;0.03;0.03	3.48	3.48	0.39840	.	0.000000	0.64402	D	0.000005	T	0.56543	0.1992	N	0.14661	0.345	0.44531	D	0.99748	D	0.59357	0.985	P	0.56823	0.807	T	0.62671	-0.6805	10	0.87932	D	0	-30.0495	10.6476	0.45630	0.0:0.0:1.0:0.0	.	146	Q8TB68	PRR7_HUMAN	Y	146;146;146;146;126	ENSP00000426601:D146Y;ENSP00000327168:D146Y;ENSP00000420872:D146Y;ENSP00000421039:D146Y	ENSP00000327168:D146Y	D	+	1	0	PRR7	176815339	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.884000	0.87274	1.939000	0.56221	0.313000	0.20887	GAC			0.711	PRR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253435.1		NM_030567		T	176882733	G	T	176882733	3	4	41	1	0	0	0	0	1	0	0	0	12623	1174	41	3	442	3	PRR7	5	176882733	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	161654	176882733	4032527	14	2889											
UNC5CL	222643	mdanderson.org	37	chr6	41002533	41002533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttgtgcatcaactggCggaccatggtctggccttga	8	11	12	10	1	2	1	1	1	1	0	2	2	2	2	2	4	2	2	2	4	1	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr6:41002533C>T	ENST00000373164.1	-	1	341	c.281G>A	c.(280-282)cGc>cAc	p.R94H	UNC5CL_ENST00000244565.3_Missense_Mutation_p.R94H|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	94					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATCAACTGGCGGACCATGGT	0.567																																					p.R94H													UNC5CL,colon,carcinoma,-1,1	UNC5CL	-1	1	0			c.G281A												219	190	200					6																	41002533		2203	4300	6503	SO:0001583	missense	222643	exon2			AACTGGCGGACCA	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.281G>A	6.37:g.41002533C>T	ENSP00000362258:p.Arg94His		29	0	0		39	0.08	3	NM_173561	3	0	0	Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361089	0.24684	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16324	2.35;2.35	4.66	3.77	0.43336	.	0.146312	0.33438	N	0.004904	T	0.04861	0.0131	L	0.27053	0.805	0.36584	D	0.873714	B	0.23185	0.081	B	0.14023	0.01	T	0.14144	-1.0483	10	0.41790	T	0.15	-27.0954	8.8131	0.34978	0.0:0.8949:0.0:0.1051	.	94	Q8IV45	UN5CL_HUMAN	H	94	ENSP00000244565:R94H;ENSP00000362258:R94H	ENSP00000244565:R94H	R	-	2	0	UNC5CL	41110511	0.092000	0.21681	0.649000	0.29536	0.180000	0.23129	0.859000	0.27858	2.426000	0.82243	0.563000	0.77884	CGC			0.567	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040491.1		NM_173561		T	41002533	C	T	41002533	3	4	41	1	0	0	0	0	1	0	0	0	17018	768	27	1	1307	1	UNC5CL	6	41002533	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10		41002533	130112534	15	2890											
ABCC10	89845	broad.mit.edu	37	chr6	43403589	43403589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagtgtccttggaccGgatccagcttttcctcgacc	7	10	10	14	2	0	0	0	0	0	0	4	3	3	2	6	3	1	1	6	3	1	3			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr6:43403589G>T	ENST00000372530.4	+	5	1924	c.1709G>T	c.(1708-1710)cGg>cTg	p.R570L	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					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)	p.R527Q(2)		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)	TCCTTGGACCGGATCCAGCTT	0.567																																					p.R570L													ABCC10,NS,carcinoma,0,2	ABCC10	118	2	2	Substitution - Missense(2)	prostate(1)|lung(1)	c.G1709T												113	102	106					6																	43403589		2203	4300	6503	SO:0001583	missense	89845	exon5			TGGACCGGATCCA	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.1709G>T	6.37:g.43403589G>T	ENSP00000361608:p.Arg570Leu		459	0	0		546	0.01	6	NM_001198934	28	0	0	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786082	0.90282	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97232	-4.3;-3.96;-3.96	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.98969	0.9649	H	0.94771	3.58	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99659	1.0993	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:0.0:1.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	L	126;570;527	ENSP00000361593:R126L;ENSP00000361608:R570L;ENSP00000244533:R527L	ENSP00000244533:R527L	R	+	2	0	ABCC10	43511567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.492000	0.84095	0.462000	0.41574	CGG			0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040603.2		NM_033450		T	43403589	G	T	43403589	3	4	41	1	0	0	0	0	1	0	0	0	50	1116	39	1	1590	1	ABCC10	6	43403589	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	2401056	43403589	127711478	16	2891											
SSPO	23145	mdanderson.org	37	chr7	149499203	149499203	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcctcaccttccagcGccaggagctgctgcggcctc	4	7	12	18	2	1	0	1	0	0	0	3	1	2	1	6	3	4	2	6	3	0	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr7:149499203G>T	ENST00000378016.2	+	0	7571							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)			ACCTTCCAGCGCCAGGAGCTG	0.701																																					p.R2524L													.	.			0			c.G7571T												4	6	5					7																	149499203		1794	3849	5643			23145	exon51			TCCAGCGCCAGGA	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.149499203G>T			10	0	0		15	0.2	3	NM_198455	0		0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.701	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						T	149499203	G	T	149499203	1	4	41	0	1	0	0	0	0	0	0	0	15212	1087	38	1		1	SSPO	7	149499203	RNA	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10		149499203	9639460	17	2892											
PHYHIP	9796	broad.mit.edu	37	chr8	22079280	22079280	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggagtcctgcgggggctgGcccgtgttgaactccgtgtt	3	10	18	10	3	0	1	0	1	0	0	2	2	2	2	3	5	2	3	3	5	1	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr8:22079280G>T	ENST00000321613.3	-	6	1035	c.579C>A	c.(577-579)ggC>ggA	p.G193G	PHYHIP_ENST00000454243.2_Silent_p.G193G	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	193										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCGGGGGCTGGCCCGTGTTGA	0.622																																					p.G193G													.	PHYHIP	24		0			c.C579A												16	22	20					8																	22079280		1977	4149	6126	SO:0001819	synonymous_variant	9796	exon5			GGGCTGGCCCGTG	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.579C>A	8.37:g.22079280G>T			97	0	0		162	0.07	11	NM_014759	13	0.08	1	D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	CCDS43723.1																																																																																					0.622	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000375388.1		NM_014759		T	22079280	G	T	22079280	2	4	41	1	0	0	0	0	0	0	0	1	11883	1190	42	2		2	PHYHIP	8	22079280	Silent	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10		22079280	124284742	18	2893											
SORBS3	10174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	22424177	22424177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgcttctccacagaccCtagtgcctctaacggagggg	7	10	12	12	1	2	1	0	0	2	1	3	2	2	2	3	3	3	2	3	3	2	4			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr8:22424177C>T	ENST00000240123.7	+	14	1477	c.1094C>T	c.(1093-1095)cCt>cTt	p.P365L	SORBS3_ENST00000428103.1_Missense_Mutation_p.P23L|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	365					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)		TCCACAGACCCTAGTGCCTCT	0.637																																					p.P365L													.	.			0			c.C1094T												54	52	53					8																	22424177		2203	4300	6503	SO:0001583	missense	10174	exon14			CAGACCCTAGTGC		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.1094C>T	8.37:g.22424177C>T	ENSP00000240123:p.Pro365Leu		113	0	0		179	0.26	46	NM_005775	441	0.22	95	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882466	0.33255	.	.	ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000518912;ENST00000523965;ENST00000522721	T;T;T;T;T;T	0.27557	3.1;1.66;3.08;1.87;2.47;1.77	5.63	5.63	0.86233	.	0.000000	0.49305	D	0.000154	T	0.31765	0.0807	L	0.60455	1.87	0.19300	N	0.999978	P	0.38922	0.651	B	0.35859	0.212	T	0.34054	-0.9844	10	0.46703	T	0.11	-3.9812	15.1825	0.72972	0.0:1.0:0.0:0.0	.	365	O60504	VINEX_HUMAN	L	365;23;23;23;23;23	ENSP00000240123:P365L;ENSP00000431128:P23L;ENSP00000408476:P23L;ENSP00000429887:P23L;ENSP00000429764:P23L;ENSP00000429479:P23L	ENSP00000240123:P365L	P	+	2	0	SORBS3	22480122	0.007000	0.16637	0.832000	0.32986	0.235000	0.25334	1.206000	0.32321	2.665000	0.90641	0.655000	0.94253	CCT			0.637	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254647.3		NM_005775		T	22424177	C	T	22424177	3	4	41	1	0	0	0	0	1	0	0	0	14952	681	24	3	1144	3	SORBS3	8	22424177	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	344897	22424177	123939845	19	2894											
BAI1	575	mdanderson.org	37	chr8	143603471	143603471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagcgcttcctctgcctggGctggggtgagccgcggcctt	3	9	15	14	3	1	1	0	1	1	0	2	1	2	1	4	4	3	2	4	4	1	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr8:143603471G>T	ENST00000517894.1	+	21	4064	c.3170G>T	c.(3169-3171)gGc>gTc	p.G1057V	BAI1_ENST00000323289.5_Missense_Mutation_p.G1057V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1057					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)					CTCTGCCTGGGCTGGGGTGAG	0.672																																					p.G1057V													BAI1,NS,carcinoma,-1,1	BAI1	-1	1	0			c.G3170T												32	40	37					8																	143603471		2196	4296	6492	SO:0001583	missense	575	exon20			GCCTGGGCTGGGG	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.3170G>T	8.37:g.143603471G>T	ENSP00000430945:p.Gly1057Val		19	0	0		36	0.08	3	NM_001702	8	0	0		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	16.14	3.038921	0.55003	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	D;D	0.84660	-1.88;-1.88	3.78	3.78	0.43462	.	0.151741	0.43260	U	0.000583	D	0.89989	0.6875	M	0.92459	3.31	0.80722	D	1	B	0.33022	0.394	B	0.39840	0.311	D	0.91897	0.5528	10	0.87932	D	0	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1057	E9PBK0	.	V	1057	ENSP00000430945:G1057V;ENSP00000313046:G1057V	ENSP00000313046:G1057V	G	+	2	0	BAI1	143600473	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	9.490000	0.97952	1.641000	0.50575	0.305000	0.20034	GGC			0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000379963.3		NM_001702		T	143603471	G	T	143603471	3	4	41	1	0	0	0	0	1	0	0	0	1298	1203	42	2	3248	2	BAI1	8	143603471	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	121179294	143603471	2760551	20	2895											
ZNF7	7553	hgsc.bcm.edu	37	chr8	146067136	146067136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatatcgctctgcattGggaaattaatacacagaaaa	16	11	7	7	1	2	2	1	0	1	2	3	3	2	3	0	1	2	2	0	1	6	5			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr8:146067136G>T	ENST00000528372.1	+	5	884	c.644G>T	c.(643-645)tGg>tTg	p.W215L	ZNF7_ENST00000544249.1_Missense_Mutation_p.W119L|ZNF7_ENST00000446747.2_Missense_Mutation_p.W226L|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325241.6_Missense_Mutation_p.W215L|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	215					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)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GCTCTGCATTGGGAAATTAAT	0.458																																					p.W215L													.	.			0			c.G644T												53	55	54					8																	146067136		2203	4300	6503	SO:0001583	missense	7553	exon5			TGCATTGGGAAAT	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.644G>T	8.37:g.146067136G>T	ENSP00000432724:p.Trp215Leu		51	0	0		100	0.04	4	NM_003416	68	0	0	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246822	0.39697	.	.	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.63	-6.74	0.01743	.	3.521750	0.00559	N	0.000276	T	0.18130	0.0435	N	0.05230	-0.09	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27739	-1.0065	10	0.54805	T	0.06	3.3476	8.4829	0.33054	0.6725:0.0:0.2255:0.102	.	226;215	B4DT08;P17097	.;ZNF7_HUMAN	L	215;215;226;119;215	ENSP00000432641:W215L;ENSP00000320627:W215L;ENSP00000393260:W226L;ENSP00000439424:W119L;ENSP00000432724:W215L	ENSP00000320627:W215L	W	+	2	0	ZNF7	146037940	0.000000	0.05858	0.000000	0.03702	0.413000	0.31143	-1.796000	0.01750	-1.292000	0.02366	0.462000	0.41574	TGG			0.458	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382660.1		NM_003416		T	146067136	G	T	146067136	3	4	41	1	0	0	0	0	1	0	0	0	18125	1357	47	3	658	3	ZNF7	8	146067136	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	2463665	146067136	296886	21	2896											
ZNF189	7743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	104171915	104171915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcatcagaaattgcacaCagcatggatgcaataaatgt	16	9	8	8	0	2	1	2	0	0	1	2	2	2	2	0	1	4	4	0	1	4	2	rs200682925		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr9:104171915C>G	ENST00000339664.2	+	3	1994	c.1865C>G	c.(1864-1866)aCa>aGa	p.T622R	ZNF189_ENST00000259395.4_Missense_Mutation_p.T580R|ZNF189_ENST00000374861.3_Missense_Mutation_p.T608R	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	622					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T622I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAATTGCACACAGCATGGATG	0.398																																					p.T622R													ZNF189,NS,carcinoma,0,1	ZNF189	0	1	1	Substitution - Missense(1)	endometrium(1)	c.C1865G												58	58	58					9																	104171915		2202	4299	6501	SO:0001583	missense	7743	exon3			TGCACACAGCATG	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1865C>G	9.37:g.104171915C>G	ENSP00000342019:p.Thr622Arg		76	0	0		60	0.4	24	NM_003452	42	0.5	21	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976771	0.34848	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.19105	2.17;2.17;2.17	4.36	3.45	0.39498	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.492717	0.17293	N	0.179577	T	0.39279	0.1072	M	0.79258	2.445	0.24912	N	0.992031	B;P;B	0.52316	0.333;0.952;0.088	B;P;B	0.61477	0.275;0.889;0.202	T	0.18178	-1.0345	10	0.87932	D	0	.	5.626	0.17482	0.0:0.6901:0.202:0.1079	.	607;608;622	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	R	608;622;580	ENSP00000363995:T608R;ENSP00000342019:T622R;ENSP00000259395:T580R	ENSP00000259395:T580R	T	+	2	0	ZNF189	103211736	0.000000	0.05858	0.949000	0.38748	0.994000	0.84299	0.623000	0.24447	1.413000	0.46997	0.655000	0.94253	ACA			0.398	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053447.1		NM_003452		G	104171915	C	G	104171915	3	3	41	1	0	0	0	0	1	0	0	0	17777	478	17	5	1875	5	ZNF189	9	104171915	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10		104171915	37041516	22	2897											
CRB2	286204	mdanderson.org	37	chr9	126133061	126133061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgggggacgcgacctttGcaggctgcctccaggacgtg	6	7	16	12	3	0	0	0	0	0	0	1	3	1	2	3	4	3	3	3	4	0	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr9:126133061G>T	ENST00000373631.3	+	7	1730	c.1729G>T	c.(1729-1731)Gca>Tca	p.A577S	CRB2_ENST00000373629.2_Missense_Mutation_p.A245S|CRB2_ENST00000359999.3_Missense_Mutation_p.A577S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	577	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCGACCTTTGCAGGCTGCCT	0.677																																					p.A577S													.	.			0			c.G1729T												51	52	52					9																	126133061		2203	4300	6503	SO:0001583	missense	286204	exon7			ACCTTTGCAGGCT	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1729G>T	9.37:g.126133061G>T	ENSP00000362734:p.Ala577Ser		23	0	0		14	0.14	2	NM_173689	2	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	5.836	0.338438	0.11069	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.76316	-1.01;-1.01;-1.01	4.94	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.675191	0.12884	N	0.431155	T	0.70491	0.3230	M	0.63428	1.95	0.19300	N	0.999976	B;B	0.28933	0.166;0.228	B;B	0.28916	0.096;0.058	T	0.55945	-0.8060	10	0.09084	T	0.74	.	8.3178	0.32111	0.2395:0.0:0.7605:0.0	.	577;577	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	S	577;577;245	ENSP00000353092:A577S;ENSP00000362734:A577S;ENSP00000362732:A245S	ENSP00000353092:A577S	A	+	1	0	CRB2	125172882	0.652000	0.27349	0.043000	0.18650	0.114000	0.19823	1.989000	0.40707	1.087000	0.41251	0.448000	0.29417	GCA			0.677	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053990.3		NM_173689		T	126133061	G	T	126133061	3	4	41	1	0	0	0	0	1	0	0	0	3851	1319	46	2	1755	2	CRB2	9	126133061	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	21961146	126133061	15080370	23	2898											
NACC2	138151	mdanderson.org	37	chr9	138903726	138903726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggagcccatgaccgtgCggtacatctccacgccctcc	6	6	11	18	5	1	1	0	1	1	0	3	2	2	2	5	3	3	1	5	3	1	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr9:138903726C>T	ENST00000371753.1	-	5	1458	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	NACC2_ENST00000277554.2_Missense_Mutation_p.R467H			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	467					cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CATGACCGTGCGGTACATCTC	0.697																																					p.R467H													NACC2,colon,carcinoma,-1,1	NACC2	-1	1	0			c.G1400A												20	17	18					9																	138903726		2182	4275	6457	SO:0001583	missense	138151	exon6			ACCGTGCGGTACA	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1400G>A	9.37:g.138903726C>T	ENSP00000360818:p.Arg467His		17	0	0		13	0.15	2	NM_144653	30	0	0		Missense_Mutation	SNP	ENST00000371753.1	37	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004464	0.54254	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.65364	-0.15;-0.15	5.23	4.32	0.51571	.	0.066769	0.64402	D	0.000013	T	0.47432	0.1445	N	0.24115	0.695	0.42482	D	0.992863	B	0.30605	0.287	B	0.19666	0.026	T	0.50406	-0.8832	10	0.66056	D	0.02	.	14.9768	0.71281	0.0:0.8566:0.1434:0.0	.	467	Q96BF6	NACC2_HUMAN	H	467	ENSP00000360818:R467H;ENSP00000277554:R467H	ENSP00000277554:R467H	R	-	2	0	NACC2	138043547	1.000000	0.71417	0.996000	0.52242	0.722000	0.41435	6.988000	0.76212	1.182000	0.42928	0.313000	0.20887	CGC			0.697	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055040.1		NM_144653		T	138903726	C	T	138903726	3	4	41	1	0	0	0	0	1	0	0	0	10152	768	27	1	367	1	NACC2	9	138903726	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	12770665	138903726	2309705	24	2899											
SNAPC4	6621	mdanderson.org	37	chr9	139286450	139286450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgtgtgcagccgcgatcgCctgcagccgctcctcctcct	3	8	11	19	5	0	0	0	0	0	0	4	1	3	0	7	0	4	3	7	0	0	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr9:139286450C>T	ENST00000298532.2	-	9	1287	c.919G>A	c.(919-921)Gcg>Acg	p.A307T		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)		GCCGCGATCGCCTGCAGCCGC	0.662																																					p.A307T													.	.			0			c.G919A												81	76	77					9																	139286450		2203	4300	6503	SO:0001583	missense	6621	exon9			CGATCGCCTGCAG	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.919G>A	9.37:g.139286450C>T	ENSP00000298532:p.Ala307Thr		61	0	0		40	0.08	3	NM_003086	26	0	0		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200665	0.22121	.	.	ENSG00000165684	ENST00000298532	T	0.29917	1.55	5.69	4.79	0.61399	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.493499	0.21514	N	0.073336	T	0.33702	0.0872	L	0.58428	1.81	0.09310	N	0.999999	P	0.40398	0.716	B	0.42245	0.381	T	0.19353	-1.0308	10	0.46703	T	0.11	-10.0695	11.1974	0.48722	0.0:0.8011:0.1276:0.0713	.	307	Q5SXM2	SNPC4_HUMAN	T	307	ENSP00000298532:A307T	ENSP00000298532:A307T	A	-	1	0	SNAPC4	138406271	0.003000	0.15002	0.014000	0.15608	0.020000	0.10135	0.498000	0.22530	1.375000	0.46248	0.655000	0.94253	GCG			0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055071.1		NM_003086		T	139286450	C	T	139286450	3	4	41	1	0	0	0	0	1	0	0	0	14860	739	26	2	3546	2	SNAPC4	9	139286450	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	382724	139286450	1926981	25	2900											
DLG5	9231	mdanderson.org	37	chr10	79577631	79577631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggtccaggctcaggcGtccctggtgctggacactgc	5	8	14	14	1	2	0	2	0	0	0	4	1	4	1	2	5	2	3	2	5	0	0	rs147253082		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr10:79577631G>T	ENST00000372391.2	-	18	3693	c.3688C>A	c.(3688-3690)Cgc>Agc	p.R1230S	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.R890S	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1230					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)			AGGCTCAGGCGTCCCTGGTGC	0.602																																					p.R1230S													.	.			0			c.C3688A												53	39	44					10																	79577631		2145	4198	6343	SO:0001583	missense	9231	exon18			TCAGGCGTCCCTG	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.3688C>A	10.37:g.79577631G>T	ENSP00000361467:p.Arg1230Ser		40	0	0		51	0.06	3	NM_004747	74	0	0	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	32	5.180096	0.94846	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.06528	3.31;3.29;3.52	5.8	5.8	0.92144	.	0.000000	0.39407	N	0.001365	T	0.14442	0.0349	L	0.43923	1.385	0.51482	D	0.999924	D;D;D	0.59357	0.985;0.974;0.965	P;P;P	0.54759	0.76;0.581;0.663	T	0.05954	-1.0854	10	0.21014	T	0.42	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	1120;1230;890	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	S	1230;191;890	ENSP00000361467:R1230S;ENSP00000394797:R191S;ENSP00000361464:R890S	ENSP00000361464:R890S	R	-	1	0	DLG5	79247637	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	9.230000	0.95299	2.735000	0.93741	0.655000	0.94253	CGC			0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048900.2				T	79577631	G	T	79577631	3	4	41	1	0	0	0	0	1	0	0	0	4563	1145	40	1	2131	1	DLG5	10	79577631	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10		79577631	55957116	26	2901											
MYOF	26509	mdanderson.org	37	chr10	95123740	95123740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccgtgtaggtgtcctcgGccggcttccagtcgcccccg	3	9	12	17	5	0	0	0	0	0	0	5	0	3	0	6	3	0	2	6	3	1	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr10:95123740G>T	ENST00000359263.4	-	27	2845	c.2846C>A	c.(2845-2847)gCc>gAc	p.A949D	MYOF_ENST00000371502.4_Missense_Mutation_p.A949D|MYOF_ENST00000358334.5_Missense_Mutation_p.A936D|MYOF_ENST00000371501.4_Missense_Mutation_p.A949D	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	949					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						GGTGTCCTCGGCCGGCTTCCA	0.617																																					p.A949D													.	.			0			c.C2846A												54	55	55					10																	95123740		1932	4135	6067	SO:0001583	missense	26509	exon27			TCCTCGGCCGGCT	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.2846C>A	10.37:g.95123740G>T	ENSP00000352208:p.Ala949Asp		57	0	0		50	0.06	3	NM_013451	100	0	0	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795220	0.50208	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83992	-1.79;-1.78;-1.79;-1.79	5.65	4.73	0.59995	Ferlin/Peroxisome membrane (1);	0.104312	0.64402	D	0.000004	D	0.83894	0.5353	L	0.53249	1.67	0.58432	D	0.999996	B;B	0.32425	0.189;0.371	B;B	0.43052	0.406;0.323	T	0.82617	-0.0369	10	0.46703	T	0.11	-20.2857	15.0589	0.71936	0.0686:0.0:0.9314:0.0	.	936;949	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	D	936;949;949;949	ENSP00000351094:A936D;ENSP00000352208:A949D;ENSP00000360556:A949D;ENSP00000360557:A949D	ENSP00000351094:A936D	A	-	2	0	MYOF	95113730	0.992000	0.36948	0.277000	0.24703	0.330000	0.28571	4.792000	0.62467	2.941000	0.99782	0.655000	0.94253	GCC			0.617	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000049423.2		NM_013451		T	95123740	G	T	95123740	3	4	41	1	0	0	0	0	1	0	0	0	10105	1203	42	2	3451	2	MYOF	10	95123740	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	15546109	95123740	40411007	27	2902											
MMS19	64210	broad.mit.edu	37	chr10	99221310	99221310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagcagcggtggaagaaaAggggcagctgtggcagcagc	11	3	19	8	1	0	1	0	0	0	1	0	2	0	2	0	6	5	6	0	6	3	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr10:99221310A>G	ENST00000438925.2	-	23	2589	c.2254T>C	c.(2254-2256)Ttt>Ctt	p.F752L	MMS19_ENST00000355839.6_Missense_Mutation_p.F709L|MMS19_ENST00000327277.7_Intron|MMS19_ENST00000327238.10_Missense_Mutation_p.F654L|MMS19_ENST00000370782.2_Missense_Mutation_p.F752L	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	752					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)		GTGGAAGAAAAGGGGCAGCTG	0.527								Direct reversal of damage																													p.F752L													.	MMS19	36		0			c.T2254C												39	38	39					10																	99221310		2203	4299	6502	SO:0001583	missense	64210	exon23			AAGAAAAGGGGCA	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.2254T>C	10.37:g.99221310A>G	ENSP00000412698:p.Phe752Leu		153	0	0		141	0.02	3	NM_022362	90	0	0	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834593	0.32421	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839	T;T;T;T	0.65916	-0.08;-0.08;-0.18;-0.08	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.229422	0.45361	D	0.000369	T	0.52837	0.1759	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.13407	0.001;0.009;0.005;0.0;0.001	T	0.49943	-0.8885	10	0.10902	T	0.67	.	16.397	0.83610	1.0:0.0:0.0:0.0	.	773;654;709;752;709	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3	.;.;.;MMS19_HUMAN;.	L	752;752;654;731;709	ENSP00000412698:F752L;ENSP00000359818:F752L;ENSP00000320059:F654L;ENSP00000348097:F709L	ENSP00000320059:F654L	F	-	1	0	MMS19	99211300	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	5.647000	0.67923	2.275000	0.75901	0.459000	0.35465	TTT			0.527	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049706.2				G	99221310	A	G	99221310	3	3	41	1	0	0	0	0	1	0	0	0	9688	72	3	4	874	4	MMS19	10	99221310	Missense_Mutation	SNP	A	TCGA-2G-AAGX-01A-11D-A42Y-10	4097570	99221310	36313437	28	2903											
MUC2	4583	mdanderson.org	37	chr11	1092961	1092961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccaccactacggtgaccCcaaccccaacacccaccggc	11	2	5	23	2	0	1	0	1	0	0	0	1	0	1	9	2	3	0	9	2	3	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:1092961C>T	ENST00000441003.2	+	30	4807	c.4780C>T	c.(4780-4782)Cca>Tca	p.P1594S	MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	tacggtgaccccaaccccaac	0.637																																					p.P1594S													.	.			0			c.C4780T												50	84	72					11																	1092961		1794	3237	5031	SO:0001583	missense	4583	exon30			GTGACCCCAACCC	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.4780C>T	11.37:g.1092961C>T	ENSP00000415183:p.Pro1594Ser		24	0	0		29	0.07	2	NM_002457	11	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.408	-0.120819	0.06838	.	.	ENSG00000198788	ENST00000441003	T	0.14516	2.5	1.28	-2.14	0.07123	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44128	-0.9348	8	0.10902	T	0.67	.	2.2099	0.03945	0.4096:0.3632:0.0:0.2272	.	1594	E7EUV1	.	S	1594	ENSP00000415183:P1594S	ENSP00000415183:P1594S	P	+	1	0	MUC2	1082961	0.000000	0.05858	0.018000	0.16275	0.191000	0.23601	-1.747000	0.01827	-0.108000	0.12066	0.064000	0.15345	CCA			0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1092961	C	T	1092961	3	4	41	1	0	0	0	0	1	0	0	0	9991	623	22	3	4898	3	MUC2	11	1092961	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10		1092961	133913555	29	2904											
MYBPC3	4607	mdanderson.org	37	chr11	47365120	47365120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagccagttccacggtcagCcggatcttgtggcctttgct	5	12	11	13	2	3	0	2	0	1	0	4	1	4	1	4	3	3	2	4	3	0	3			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:47365120C>T	ENST00000545968.1	-	13	1200	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	MYBPC3_ENST00000399249.2_Silent_p.R382R|MYBPC3_ENST00000256993.4_Silent_p.R382R	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	382	Ig-like C2-type 2.		R -> W (in dbSNP:rs11570076). {ECO:0000269|PubMed:15519027, ECO:0000269|Ref.4}.		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)		CCACGGTCAGCCGGATCTTGT	0.647																																					p.R382R													.	.			0			c.G1146A												54	54	54					11																	47365120		2004	4175	6179	SO:0001819	synonymous_variant	4607	exon13			GGTCAGCCGGATC	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.1146G>A	11.37:g.47365120C>T			70	0	0		46	0.07	3	NM_000256	0		0	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	CCDS53621.1																																																																																					0.647	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000392271.3				T	47365120	C	T	47365120	2	4	41	1	0	0	0	0	0	0	0	1	10029	726	26	2		2	MYBPC3	11	47365120	Silent	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	46272159	47365120	87641396	30	2905											
MRPL16	54948	mdanderson.org	37	chr11	59577352	59577352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttggtactgggagcaGtgtctttacgccagcactgg	10	10	12	9	1	1	0	0	0	1	0	1	1	1	1	1	3	5	3	1	3	4	4			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:59577352G>T	ENST00000300151.4	-	2	310	c.97C>A	c.(97-99)Ctg>Atg	p.L33M		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	33					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						ACTGGGAGCAGTGTCTTTACG	0.502																																					p.L33M													MRPL16,NS,carcinoma,0,1	MRPL16	0	1	0			c.C97A												59	56	57					11																	59577352		2201	4295	6496	SO:0001583	missense	54948	exon2			GGAGCAGTGTCTT	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.97C>A	11.37:g.59577352G>T	ENSP00000300151:p.Leu33Met		67	0.0149253731	1		45	0.07	3	NM_017840	109	0	0	Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139894	0.56936	.	.	ENSG00000166902	ENST00000300151	T	0.25912	1.77	5.91	4.9	0.64082	.	0.293153	0.37906	N	0.001893	T	0.21307	0.0513	L	0.36672	1.1	0.29045	N	0.884869	P	0.46706	0.883	B	0.43990	0.438	T	0.13845	-1.0494	10	0.59425	D	0.04	-17.1396	6.8929	0.24241	0.1399:0.0:0.8601:0.0	.	33	Q9NX20	RM16_HUMAN	M	33	ENSP00000300151:L33M	ENSP00000300151:L33M	L	-	1	2	MRPL16	59333928	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	2.872000	0.48467	2.793000	0.96121	0.655000	0.94253	CTG			0.502	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394521.1		NM_017840		T	59577352	G	T	59577352	3	4	41	1	0	0	0	0	1	0	0	0	9797	1020	36	3	670	3	MRPL16	11	59577352	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	12212232	59577352	75429164	31	2906											
CAPN5	726	mdanderson.org	37	chr11	76831772	76831772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtggaggagaaccGccagtaccgcatgcacagcc	10	4	13	14	2	0	1	0	0	0	1	0	3	0	2	5	3	5	4	5	3	2	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:76831772G>T	ENST00000278559.3	+	10	1493	c.1304G>T	c.(1303-1305)cGc>cTc	p.R435L	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R435L|CAPN5_ENST00000456580.2_Missense_Mutation_p.R475L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	435	Domain III.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GAGGAGAACCGCCAGTACCGC	0.672																																					p.R435L													.	.			0			c.G1304T												93	79	84					11																	76831772		2200	4292	6492	SO:0001583	missense	726	exon10			AGAACCGCCAGTA		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1304G>T	11.37:g.76831772G>T	ENSP00000278559:p.Arg435Leu		45	0	0		32	0.09	3	NM_004055	20	0	0	O00263	Missense_Mutation	SNP	ENST00000278559.3	37	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123433	0.94429	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.88201	-2.35;-2.35;-2.35	5.04	5.04	0.67666	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.127919	0.52532	D	0.000078	D	0.93729	0.7996	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.99;1.0	D;D;D;D	0.91635	0.998;0.979;0.948;0.999	D	0.94253	0.7495	10	0.66056	D	0.02	.	17.3654	0.87362	0.0:0.0:1.0:0.0	.	473;475;475;435	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	L	435;475;435;475;475	ENSP00000278559:R435L;ENSP00000432332:R435L;ENSP00000409996:R475L	ENSP00000278559:R435L	R	+	2	0	CAPN5	76509420	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.476000	0.97823	2.351000	0.79841	0.563000	0.77884	CGC			0.672	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382564.2		NM_004055		T	76831772	G	T	76831772	3	4	41	1	0	0	0	0	1	0	0	0	2631	1087	38	1	1338	1	CAPN5	11	76831772	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	17254420	76831772	58174744	32	2907											
NFRKB	4798	mdanderson.org	37	chr11	129740083	129740083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacatccttaccctggatgCggaagttagtggctgtgagt	9	12	12	8	1	0	1	0	1	0	0	1	3	1	3	2	3	3	2	2	3	4	3			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:129740083C>T	ENST00000446488.3	-	23	2940	c.2837G>A	c.(2836-2838)cGc>cAc	p.R946H	NFRKB_ENST00000524746.1_Missense_Mutation_p.R946H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R971H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R946H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	946					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACCCTGGATGCGGAAGTTAGT	0.557																																					p.R971H													.	.			0			c.G2912A												177	145	156					11																	129740083		2201	4297	6498	SO:0001583	missense	4798	exon22			TGGATGCGGAAGT		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.2837G>A	11.37:g.129740083C>T	ENSP00000400476:p.Arg946His		145	0	0		77	0.05	4	NM_006165	14	0	0	Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974650	0.74360	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	L	0.32530	0.975	0.80722	D	1	D;P;D;D	0.89917	0.994;0.877;1.0;1.0	P;B;D;D	0.85130	0.733;0.23;0.997;0.997	T	0.72261	-0.4345	9	0.72032	D	0.01	-12.1151	18.3589	0.90368	0.0:1.0:0.0:0.0	.	956;946;945;971	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	H	946;946;971;946;956	.	ENSP00000303800:R946H	R	-	2	0	NFRKB	129245293	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.694000	0.61760	2.327000	0.79052	0.655000	0.94253	CGC			0.557	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386063.2		NM_006165		T	129740083	C	T	129740083	3	4	41	1	0	0	0	0	1	0	0	0	10401	768	27	1	1078	1	NFRKB	11	129740083	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	52908311	129740083	5266433	33	2908											
WNT5B	81029	mdanderson.org	37	chr12	1755104	1755104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgacagcgcggccgccatgCgcgtcacccgcaagggccgg	7	2	15	17	8	1	0	1	0	0	0	1	1	1	0	4	3	2	1	4	3	1	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr12:1755104C>T	ENST00000397196.2	+	5	998	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	WNT5B_ENST00000310594.3_Missense_Mutation_p.R256C|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000537031.1_Missense_Mutation_p.R256C	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	256					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)			GGCCGCCATGCGCGTCACCCG	0.687																																					p.R256C													WNT5B_ENST00000397196,NS,carcinoma,-2,1	WNT5B_ENST00000397196	-2	1	0			c.C766T												26	28	27					12																	1755104		2201	4298	6499	SO:0001583	missense	81029	exon5			GCCATGCGCGTCA	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.766C>T	12.37:g.1755104C>T	ENSP00000380379:p.Arg256Cys		29	0	0		55	0.05	3	NM_030775	59	0	0	A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274670	0.59649	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196	T;T;T	0.76578	-1.03;-1.03;-1.03	5.14	5.14	0.70334	.	0.050844	0.85682	D	0.000000	D	0.89033	0.6600	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.90463	0.4447	10	0.66056	D	0.02	.	14.4508	0.67385	0.2107:0.7893:0.0:0.0	.	256	Q9H1J7	WNT5B_HUMAN	C	256	ENSP00000439312:R256C;ENSP00000308887:R256C;ENSP00000380379:R256C	ENSP00000308887:R256C	R	+	1	0	WNT5B	1625365	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	2.300000	0.43620	2.668000	0.90789	0.650000	0.86243	CGC			0.687	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206747.2				T	1755104	C	T	1755104	3	4	41	1	0	0	0	0	1	0	0	0	17416	768	27	1	780	1	WNT5B	12	1755104	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10		1755104	132096791	34	2909											
C12orf35	55196	hgsc.bcm.edu;broad.mit.edu	37	chr12	32137715	32137715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacagaacaagaattagttGctggtcagttttcatctaaa	14	12	9	6	0	3	2	2	0	1	2	3	3	3	3	0	2	2	3	0	2	6	5			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr12:32137715G>T	ENST00000312561.4	+	4	4240	c.3826G>T	c.(3826-3828)Gct>Tct	p.A1276S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1276																	AGAATTAGTTGCTGGTCAGTT	0.343																																					p.A1276S													C12orf35,colon,carcinoma,0,1	C12orf35	0	1	0			c.G3826T												44	42	43					12																	32137715		2203	4300	6503	SO:0001583	missense	55196	exon4			TTAGTTGCTGGTC	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3826G>T	12.37:g.32137715G>T	ENSP00000310338:p.Ala1276Ser		67	0.0149253731	1		144	0.04	6	NM_018169	92	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.441504	0.00180	.	.	ENSG00000174718	ENST00000312561	T	0.10099	2.91	0.235	0.235	0.15431	.	.	.	.	.	T	0.05135	0.0137	N	0.12182	0.205	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.45011	-0.9290	7	.	.	.	.	.	.	.	.	1276	Q9HCM1	CL035_HUMAN	S	1276	ENSP00000310338:A1276S	.	A	+	1	0	C12orf35	32028982	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	GCT			0.343	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250307.2		NM_018169		T	32137715	G	T	32137715	3	4	41	1	0	0	0	0	1	0	0	0	1684	1319	46	2	3828	2	C12orf35	12	32137715	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	30382611	32137715	101714180	35	2910											
RAB21	23011	mdanderson.org	37	chr12	72148936	72148936	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccggcggcggcggcggCggggcggcggcggcgggccg	0	0	27	14	12	0	0	0	0	0	0	0	0	0	0	2	12	0	0	2	12	0	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr12:72148936C>G	ENST00000261263.3	+	1	283	c.27C>G	c.(25-27)ggC>ggG	p.G9G		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	9					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						gcggcggcggcggggcggcgg	0.761																																					p.G9G													.	.			0			c.C27G												4	3	3					12																	72148936		1494	3057	4551	SO:0001819	synonymous_variant	23011	exon1			CGGCGGCGGGGCG	AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"RAB, member RAS oncogene"	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.27C>G	12.37:g.72148936C>G			10	0	0		16	0.13	2	NM_014999	2	0	0	Q14466|Q569H3	Silent	SNP	ENST00000261263.3	37	CCDS9003.1																																																																																					0.761	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404855.1				G	72148936	C	G	72148936	2	3	41	1	0	0	0	0	0	0	0	1	12931	755	27	5		5	RAB21	12	72148936	Silent	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	40011221	72148936	61702959	36	2911											
MLXIP	22877	mdanderson.org	37	chr12	122612481	122612481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgtgacacccctggacgGctctgtggacgtagacgagc	7	9	13	12	3	1	2	0	1	1	1	1	5	1	4	2	3	1	2	2	3	1	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr12:122612481G>A	ENST00000319080.7	+	3	704	c.572G>A	c.(571-573)gGc>gAc	p.G191D						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCCTGGACGGCTCTGTGGAC	0.597																																					p.G191D	Esophageal Squamous(105;787 1493 16200 18566 52466)												MLXIP,NS,carcinoma,+1,1	MLXIP	1	1	0			c.G572A												117	123	121					12																	122612481		2011	4195	6206	SO:0001583	missense	22877	exon3			TGGACGGCTCTGT	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.572G>A	12.37:g.122612481G>A	ENSP00000312834:p.Gly191Asp		41	0	0		50	0.06	3	NM_014938	80	0	0		Missense_Mutation	SNP	ENST00000319080.7	37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.378433	0.82682	.	.	ENSG00000175727	ENST00000319080	T	0.15952	2.38	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.31166	-0.9953	9	0.72032	D	0.01	-33.6278	14.996	0.71431	0.0:0.1421:0.8579:0.0	.	191	Q9HAP2	MLXIP_HUMAN	D	191	ENSP00000312834:G191D	ENSP00000312834:G191D	G	+	2	0	MLXIP	121178435	1.000000	0.71417	0.998000	0.56505	0.607000	0.37147	7.514000	0.81750	2.590000	0.87494	0.655000	0.94253	GGC			0.597	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000401718.2		NM_014938		A	122612481	G	A	122612481	3	1	41	1	0	0	0	0	1	0	0	0	9652	1203	42	2	582	2	MLXIP	12	122612481	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	50463545	122612481	11239414	37	2912											
PABPC3	5042	bcgsc.ca	37	chr13	25671311	25671315	+	Frame_Shift_Del	DEL	TATGA	TATGA	-																															acaatcactagtgcaaaggtTatgatggaaggtggtcgcag																								rs371130768|rs373128241		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	TATGA	TATGA					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr13:25671311_25671315delTATGA	ENST00000281589.3	+	1	1012_1016	c.975_979delTATGA	c.(973-981)gttatgatgfs	p.MM326fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	326	RRM 4. {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)		GTGCAAAGGTTATGATGGAAGGTGG	0.415																																					p.325_327del													.	PABPC3	129		0			c.975_979del																																									SO:0001589	frameshift_variant	5042	exon1			AAAGGTTATGATG	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.975_979delTATGA	13.37:g.25671311_25671315delTATGA	ENSP00000281589:p.Met326fs		237	0.0042194093	1		198	0.03	5	NM_030979	17	0	0	Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	CCDS9311.1																																																																																					0.415	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044220.2		NM_030979		-	25671315	TATGA	-	25671311	7	5	41	1	0	1	0	1	0	0	0	0	11382	1741	61	0	977	0	PABPC3	13	25671311	Frame_Shift_Del	DEL	TATGA	TCGA-2G-AAGX-01A-11D-A42Y-10		25671311	89498567	38	2913											
ATP11A	23250	ucsc.edu;bcgsc.ca	37	chr13	113508740	113508740	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacgcagctgctggagctGaccaccaagaggatcgagga	13	4	13	11	2	0	2	0	1	0	1	1	6	0	5	2	3	4	4	2	3	2	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr13:113508740G>T	ENST00000487903.1	+	19	2227	c.2139G>T	c.(2137-2139)ctG>ctT	p.L713L	ATP11A_ENST00000283558.8_Silent_p.L713L|ATP11A_ENST00000375630.2_Silent_p.L713L|ATP11A_ENST00000375645.3_Silent_p.L713L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	713					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)				TGCTGGAGCTGACCACCAAGA	0.622																																					p.L713L													.	ATP11A	225		0			c.G2139T												66	60	62					13																	113508740		2203	4300	6503	SO:0001819	synonymous_variant	23250	exon19			GGAGCTGACCACC	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.2139G>T	13.37:g.113508740G>T			54	0	0		34	0.12	4	NM_032189	29	0	0	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275482	0.23307	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-1.24	0.09435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4584	0.27280	0.3026:0.4762:0.2212:0.0	.	.	.	.	L	688	.	.	X	+	2	2	ATP11A	112556741	0.588000	0.26799	0.447000	0.26932	0.983000	0.72400	-0.314000	0.08092	-0.523000	0.06409	-0.264000	0.10439	TGA			0.622	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000045834.3		NM_015205		T	113508740	G	T	113508740	2	4	41	1	0	0	0	0	0	0	0	1	1119	1277	45	3		3	ATP11A	13	113508740	Silent	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	87837429	113508740	1661138	39	2914											
ACIN1	22985	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	23530737	23530737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgtggtggctggaccgggGgtgggggtggggggtgcagg	2	7	27	5	1	0	0	0	0	0	0	0	1	0	1	1	11	1	3	1	11	0	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr14:23530737G>T	ENST00000262710.1	-	17	3695	c.3368C>A	c.(3367-3369)cCc>cAc	p.P1123H	ACIN1_ENST00000457657.1_Missense_Mutation_p.P1083H|ACIN1_ENST00000555053.1_Missense_Mutation_p.P1110H|ACIN1_ENST00000357481.2_Missense_Mutation_p.P365H|ACIN1_ENST00000557515.1_Missense_Mutation_p.P364H|ACIN1_ENST00000605057.1_Missense_Mutation_p.P1065H|ACIN1_ENST00000338631.6_Missense_Mutation_p.P396H|ACIN1_ENST00000397341.3_Missense_Mutation_p.P365H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1123	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGGACCGGGGGTGGGGGTGG	0.667																																					p.P1123H													.	.			0			c.C3368A												11	14	13					14																	23530737		2091	4025	6116	SO:0001583	missense	22985	exon17			ACCGGGGGTGGGG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3368C>A	14.37:g.23530737G>T	ENSP00000262710:p.Pro1123His		71	0	0		79	0.14	11	NM_014977	128	0.38	49	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832869	0.71258	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T	0.16897	2.31;2.32;2.31	5.19	5.19	0.71726	.	0.000000	0.39210	N	0.001435	T	0.17789	0.0427	N	0.01352	-0.895	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.76575	0.988;0.972;0.972;0.923;0.923	T	0.56475	-0.7973	10	0.59425	D	0.04	-8.6985	17.6555	0.88176	0.0:0.0:1.0:0.0	.	1110;1123;1083;396;365	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	H	364;396;365;1123;1083;365;1110	ENSP00000262710:P1123H;ENSP00000405677:P1083H;ENSP00000451328:P1110H	ENSP00000262710:P1123H	P	-	2	0	ACIN1	22600577	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.042000	0.41222	2.684000	0.91462	0.563000	0.77884	CCC			0.667	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000071707.3		NM_014977		T	23530737	G	T	23530737	3	4	41	1	0	0	0	0	1	0	0	0	142	1232	43	3	669	3	ACIN1	14	23530737	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10		23530737	83818803	40	2915											
TP53BP1	7158	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	43712824	43712833	+	Frame_Shift_Del	DEL	GTCTGGTGGA	GTCTGGTGGA	-																															accagcacccacatctgttcGtctggtggagtctggcactc																										TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	GTCTGGTGGA	GTCTGGTGGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr15:43712824_43712833delGTCTGGTGGA	ENST00000263801.3	-	21	4588_4597	c.4336_4345delTCCACCAGAC	c.(4336-4347)tccaccagacgafs	p.STRR1446fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.STRR1451fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.STRR1401fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.STRR1451fs	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)		ACATCTGTTCGTCTGGTGGAGTCTGGCACT	0.548								Other conserved DNA damage response genes																													p.1451_1454del													.	TP53BP1	157		0			c.4352_4361del																																									SO:0001589	frameshift_variant	7158	exon21			CTGTTCGTCTGGT	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.4336_4345delTCCACCAGAC	15.37:g.43712824_43712833delGTCTGGTGGA	ENSP00000263801:p.Ser1446fs		55	0	0		54	0.2	11	NM_001141980	66	0	0	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	ENST00000263801.3	37	CCDS10096.1																																																																																					0.548	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000132897.3				-	43712833	GTCTGGTGGA	-	43712824	7	5	41	1	0	1	0	1	0	0	0	0	16407	1153	40	0	1605	0	TP53BP1	15	43712824	Frame_Shift_Del	DEL	GTCTGGTGGA	TCGA-2G-AAGX-01A-11D-A42Y-10		43712824	58818568	41	2916											
CILP	8483	mdanderson.org	37	chr15	65499312	65499312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtccccatagtagaagcGaatggcgtccagccgctcat	10	7	11	13	4	1	1	1	0	0	1	3	2	3	1	4	2	2	2	4	2	4	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr15:65499312G>T	ENST00000261883.4	-	4	398	c.232C>A	c.(232-234)Cgc>Agc	p.R78S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	78					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TAGTAGAAGCGAATGGCGTCC	0.612																																					p.R78S													CILP,NS,carcinoma,+2,1	CILP	2	1	0			c.C232A												51	42	45					15																	65499312		2201	4299	6500	SO:0001583	missense	8483	exon4			AGAAGCGAATGGC	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.232C>A	15.37:g.65499312G>T	ENSP00000261883:p.Arg78Ser		76	0	0		72	0.06	4	NM_003613	2	0	0	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113538	0.77210	.	.	ENSG00000138615	ENST00000261883	T	0.18502	2.21	5.58	5.58	0.84498	.	0.207477	0.49916	D	0.000127	T	0.35970	0.0950	M	0.92970	3.365	0.52099	D	0.999949	B	0.32620	0.378	B	0.39339	0.297	T	0.38134	-0.9675	10	0.87932	D	0	-7.3295	12.0712	0.53618	0.0:0.0:0.8281:0.1719	.	78	O75339	CILP1_HUMAN	S	78	ENSP00000261883:R78S	ENSP00000261883:R78S	R	-	1	0	CILP	63286365	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	4.418000	0.59828	2.619000	0.88677	0.561000	0.74099	CGC			0.612	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256829.1		NM_003613		T	65499312	G	T	65499312	3	4	41	1	0	0	0	0	1	0	0	0	3431	1058	37	1	3346	1	CILP	15	65499312	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	21786488	65499312	37032080	42	2917											
VASN	114990	broad.mit.edu	37	chr16	4432543	4432543	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcggggaggcccatacAcccccagccgtccactccaa	8	4	10	19	2	0	0	0	0	0	0	2	1	2	1	7	3	3	0	7	3	2	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:4432543A>C	ENST00000304735.3	+	2	1820	c.1665A>C	c.(1663-1665)acA>acC	p.T555T	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	555	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						AGGCCCATACACCCCCAGCCG	0.731																																					p.T555T													.	VASN	21		0			c.A1665C												11	17	15					16																	4432543		2155	4252	6407	SO:0001819	synonymous_variant	114990	exon2			CCATACACCCCCA	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1665A>C	16.37:g.4432543A>C			44	0.1590909091	7		61	0.18	11	NM_138440	84	0.01	1	Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																					0.731	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251632.1		NM_138440		C	4432543	A	C	4432543	2	2	41	1	0	0	0	0	0	0	0	1	17151	146	6	4		4	VASN	16	4432543	Silent	SNP	A	TCGA-2G-AAGX-01A-11D-A42Y-10		4432543	85922210	43	2918											
ANKS3	124401	mdanderson.org	37	chr16	4751543	4751543	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcacagaaagcatgttcCtctgagggcgggaagacagg	11	7	15	8	1	1	3	0	1	1	2	2	4	2	4	1	4	1	3	1	4	2	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:4751543C>A	ENST00000304283.4	-	10	1305	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	ANKS3_ENST00000446014.2_Splice_Site_p.E208D|ANKS3_ENST00000450067.2_Splice_Site_p.E131D|ANKS3_ENST00000585773.1_Splice_Site_p.E264D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	337	Ser-rich.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AAGCATGTTCCTCTGAGGGCG	0.692																																					p.E337D													.	.			0			c.G1011T												29	29	29					16																	4751543		2197	4300	6497	SO:0001630	splice_region_variant	124401	exon10			ATGTTCCTCTGAG	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1010-1G>T	16.37:g.4751543C>A			36	0	0		31	0.1	3	NM_133450	37	0	0	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369163	0.24771	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.45668	1.49;3.22;0.89	5.26	-3.96	0.04106	.	0.319867	0.33161	N	0.005206	T	0.44561	0.1299	L	0.43757	1.38	0.31871	N	0.619672	D;B	0.63880	0.993;0.012	P;B	0.60789	0.879;0.006	T	0.54616	-0.8267	10	0.10902	T	0.67	.	16.3758	0.83387	0.0:0.8388:0.0:0.1612	.	131;337	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	D	337;208;131	ENSP00000304586:E337D;ENSP00000406796:E208D;ENSP00000388270:E131D	ENSP00000304586:E337D	E	-	3	2	ANKS3	4691544	0.068000	0.21057	0.390000	0.26220	0.029000	0.11900	-0.931000	0.03967	-0.671000	0.05274	-0.379000	0.06801	GAG			0.692	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251642.3		NM_133450	Missense_Mutation	A	4751543	C	A	4751543	5	1	41	1	0	0	0	0	0	0	1	0	690	695	24	3	991	3	ANKS3	16	4751543	Splice_Site	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	319000	4751543	85603210	44	2919											
INO80E	283899	bcgsc.ca	37	chr16	30016646	30016652	+	Frame_Shift_Del	DEL	TAAGATG	TAAGATG	-																															ctgacccccctcccacccccTaagatgcccccccccacgat																										TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	TAAGATG	TAAGATG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:30016646_30016652delTAAGATG	ENST00000563197.1	+	7	1635_1641	c.618_624delTAAGATG	c.(616-624)cctaagatgfs	p.PKM206fs	INO80E_ENST00000304516.7_Frame_Shift_Del_p.PKM167fs|INO80E_ENST00000567705.1_Frame_Shift_Del_p.PKM189fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	206	Pro-rich.				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						TCCCACCCCCTAAGATGCCCCCCCCCA	0.681																																					p.206_208del													.	INO80E	26		0			c.618_624del																																									SO:0001589	frameshift_variant	283899	exon7			ACCCCCTAAGATG	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.618_624delTAAGATG	16.37:g.30016646_30016652delTAAGATG	ENSP00000457016:p.Pro206fs		180	0	0		167	0	0	NM_173618	42	0	0	Q6Y2K3	Frame_Shift_Del	DEL	ENST00000563197.1	37	CCDS10665.1																																																																																					0.681	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255156.2		NM_173618		-	30016652	TAAGATG	-	30016646	7	5	41	1	0	1	0	1	0	0	0	0	7765	1509	53	0	644	0	INO80E	16	30016646	Frame_Shift_Del	DEL	TAAGATG	TCGA-2G-AAGX-01A-11D-A42Y-10	25265103	30016646	60338107	45	2920											
IRX6	79190	mdanderson.org	37	chr16	55362814	55362814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgattggagcgcagggaGtgcggcctggctgcgccccg	4	5	19	13	5	0	0	0	0	0	0	0	3	0	2	4	5	3	2	4	5	0	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:55362814G>T	ENST00000290552.7	+	5	2256	c.924G>T	c.(922-924)gaG>gaT	p.E308D	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	308					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						AGCGCAGGGAGTGCGGCCTGG	0.662																																					p.E308D													.	.			0			c.G924T												46	50	48					16																	55362814		2196	4295	6491	SO:0001583	missense	79190	exon5			CAGGGAGTGCGGC	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.924G>T	16.37:g.55362814G>T	ENSP00000290552:p.Glu308Asp		37	0	0		50	0.06	3	NM_024335	2	0	0	B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306916	0.40795	.	.	ENSG00000159387	ENST00000290552	D	0.89875	-2.58	5.27	-0.618	0.11576	.	0.346719	0.24818	N	0.035354	T	0.77039	0.4072	L	0.27053	0.805	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.63475	-0.6629	10	0.39692	T	0.17	-6.4683	5.261	0.15573	0.2836:0.3922:0.3242:0.0	.	308	P78412	IRX6_HUMAN	D	308	ENSP00000290552:E308D	ENSP00000290552:E308D	E	+	3	2	IRX6	53920315	0.001000	0.12720	0.996000	0.52242	0.888000	0.51559	-0.113000	0.10774	0.218000	0.20820	0.462000	0.41574	GAG			0.662	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417445.4		NM_024335		T	55362814	G	T	55362814	3	4	41	1	0	0	0	0	1	0	0	0	7863	1020	36	3	942	3	IRX6	16	55362814	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	25346168	55362814	34991939	46	2921											
CNGB1	1258	mdanderson.org	37	chr16	57993941	57993941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccgggcctgcagcttgggCcccatttcctgggggcgtcc	2	9	14	16	2	0	0	0	0	0	0	3	0	3	0	6	4	2	2	6	4	0	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:57993941C>T	ENST00000251102.8	-	10	672	c.612G>A	c.(610-612)ggG>ggA	p.G204G	CNGB1_ENST00000311183.4_Silent_p.G204G|CNGB1_ENST00000564448.1_Silent_p.G198G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	204	Pro-rich.				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						GCAGCTTGGGCCCCATTTCCT	0.687																																					p.G204G	Colon(156;1293 1853 16336 28962 38659)												.	.			0			c.G612A												8	10	10					16																	57993941		1891	4073	5964	SO:0001819	synonymous_variant	1258	exon10			CTTGGGCCCCATT	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.612G>A	16.37:g.57993941C>T			33	0	0		35	0.09	3	NM_001135639	0		0	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																					0.687	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337167.2		NM_001297		T	57993941	C	T	57993941	2	4	41	1	0	0	0	0	0	0	0	1	3602	726	26	2		2	CNGB1	16	57993941	Silent	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	2631127	57993941	32360812	47	2922											
CDRT15	146822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	14139304	14139304	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaactcttcttcccagccTtcttttaatgctctccggca	6	15	6	14	1	4	0	0	0	4	0	6	1	5	1	3	2	3	2	3	2	2	5			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr17:14139304T>G	ENST00000420162.2	-	3	451	c.436A>C	c.(436-438)Agg>Cgg	p.R146R	CDRT15_ENST00000431716.2_Silent_p.R80R	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	146										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CTTCCCAGCCTTCTTTTAATG	0.557																																					p.R146R													.	.			0			c.A436C												45	43	44					17																	14139304		2203	4300	6503	SO:0001819	synonymous_variant	146822	exon3			CCAGCCTTCTTTT	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.436A>C	17.37:g.14139304T>G			322	0	0		398	0.16	64	NM_001007530	1	0	0	B2RUU5	Silent	SNP	ENST00000420162.2	37	CCDS32569.1																																																																																					0.557	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252853.1		NM_001007530		G	14139304	T	G	14139304	2	3	41	1	0	0	0	0	0	0	0	1	3177	1608	56	4		4	CDRT15	17	14139304	Silent	SNP	T	TCGA-2G-AAGX-01A-11D-A42Y-10		14139304	67055906	48	2923											
KCNJ12	3768	mdanderson.org	37	chr17	21318669	21318669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccgggatgaccgcggccagCcgggccaacccctacagcat	8	3	12	18	4	0	1	0	1	0	0	0	2	0	2	7	3	4	1	7	3	2	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr17:21318669C>T	ENST00000583088.1	+	3	910	c.15C>T	c.(13-15)agC>agT	p.S5S	KCNJ12_ENST00000331718.5_Silent_p.S5S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	5					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCGCGGCCAGCCGGGCCAACC	0.692										Prostate(3;0.18)																											p.S5S													.	.			0			c.C15T												36	36	36					17																	21318669		2202	4299	6501	SO:0001819	synonymous_variant	100134444	exon3			GGCCAGCCGGGCC	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.15C>T	17.37:g.21318669C>T			50	0	0		44	0.07	3	NM_001194958	3	0	0	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																					0.692	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255060.2		NM_021012		T	21318669	C	T	21318669	2	4	41	1	0	0	0	0	0	0	0	1	8061	738	26	2		2	KCNJ12	17	21318669	Silent	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	7179365	21318669	59876541	49	2924											
FBN3	84467	broad.mit.edu	37	chr19	8183824	8183824	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctcatgcccagggggAcactggcacttgtagctccc	7	8	12	14	0	2	0	2	0	0	0	3	1	3	1	2	3	3	4	2	3	1	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr19:8183824A>G	ENST00000600128.1	-	26	3708	c.3294T>C	c.(3292-3294)tgT>tgC	p.C1098C	FBN3_ENST00000270509.2_Silent_p.C1098C|FBN3_ENST00000601739.1_Silent_p.C1098C			Q75N90	FBN3_HUMAN	fibrillin 3	1098	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1098C(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						GCCCAGGGGGACACTGGCACT	0.587																																					p.C1098C													FBN3,rectum,carcinoma,0,1	FBN3	300	1	1	Substitution - coding silent(1)	large_intestine(1)	c.T3294C												160	117	131					19																	8183824		2203	4300	6503	SO:0001819	synonymous_variant	84467	exon25			AGGGGGACACTGG		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.3294T>C	19.37:g.8183824A>G			82	0	0		125	0.03	4	NM_032447	62	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																					0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461428.2		NM_032447		G	8183824	A	G	8183824	2	3	41	1	0	0	0	0	0	0	0	1	5717	273	10	4		4	FBN3	19	8183824	Silent	SNP	A	TCGA-2G-AAGX-01A-11D-A42Y-10		8183824	50945159	50	2925											
MAG	4099	broad.mit.edu	37	chr19	35791134	35791134	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctgtggggctgacagcaAccccccgccgctgctgacct	5	7	12	17	2	1	2	0	2	1	0	1	2	1	2	5	2	3	5	5	2	1	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr19:35791134A>C	ENST00000392213.3	+	6	956	c.797A>C	c.(796-798)aAc>aCc	p.N266T	MAG_ENST00000537831.2_Missense_Mutation_p.N241T|MAG_ENST00000361922.4_Missense_Mutation_p.N266T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	266	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGACAGCAACCCCCCGCCG	0.692																																					p.N266T													.	MAG	172		0			c.A797C												18	18	18					19																	35791134		2202	4297	6499	SO:0001583	missense	4099	exon6			ACAGCAACCCCCC	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.797A>C	19.37:g.35791134A>C	ENSP00000376048:p.Asn266Thr		18	0.2222222222	4		17	0.24	4	NM_080600	0		0	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	a	13.98	2.399145	0.42512	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.66460	-0.21;-0.21;-0.21	4.31	4.31	0.51392	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	L	0.60904	1.88	0.54753	D	0.999981	D;D;P	0.69078	0.997;0.972;0.94	D;P;P	0.77004	0.989;0.801;0.765	T	0.78183	-0.2303	10	0.59425	D	0.04	.	11.4519	0.50158	1.0:0.0:0.0:0.0	.	303;266;266	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	T	303;266;266;241	ENSP00000355234:N266T;ENSP00000376048:N266T;ENSP00000440695:N241T	ENSP00000262624:N303T	N	+	2	0	MAG	40482974	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	3.468000	0.53086	1.813000	0.52934	0.375000	0.23000	AAC			0.692	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000466071.1		NM_080600		C	35791134	A	C	35791134	3	2	41	1	0	0	0	0	1	0	0	0	9178	43	2	4	811	4	MAG	19	35791134	Missense_Mutation	SNP	A	TCGA-2G-AAGX-01A-11D-A42Y-10	27607310	35791134	23337849	51	2926											
DMWD	1762	mdanderson.org	37	chr19	46287506	46287506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgatatccatggcttcacaCcactgtgccactcggggagt	8	9	10	14	2	1	0	1	0	0	0	3	2	2	1	4	3	1	1	4	3	1	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr19:46287506C>A	ENST00000270223.6	-	5	2065	c.2020G>T	c.(2020-2022)Gtg>Ttg	p.V674L	DMWD_ENST00000601370.1_5'Flank|DMPK_ENST00000291270.4_5'Flank|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000458663.2_5'Flank|DMPK_ENST00000354227.5_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.V649L|DMPK_ENST00000447742.2_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	674										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGGCTTCACACCACTGTGCCA	0.592																																					p.V674L													.	.			0			c.G2020T												58	57	57					19																	46287506		2203	4300	6503	SO:0001583	missense	1762	exon5			TTCACACCACTGT	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.2020G>T	19.37:g.46287506C>A	ENSP00000270223:p.Val674Leu		29	0	0		16	0.19	3	NM_004943	45	0	0		Missense_Mutation	SNP	ENST00000270223.6	37	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389399	0.61956	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.63096	-0.02;0.09	4.09	4.09	0.47781	.	0.000000	0.64402	D	0.000007	T	0.55641	0.1933	N	0.08118	0	0.40310	D	0.978705	P;B	0.52577	0.954;0.044	P;B	0.58013	0.831;0.011	T	0.64863	-0.6307	10	0.87932	D	0	.	11.9781	0.53105	0.0:1.0:0.0:0.0	.	649;674	G5E9A7;Q09019	.;DMWD_HUMAN	L	649;674	ENSP00000366964:V649L;ENSP00000270223:V674L	ENSP00000270223:V674L	V	-	1	0	DMWD	50979346	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.859000	0.55987	2.298000	0.77334	0.462000	0.41574	GTG			0.592	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402063.1		NM_004943		A	46287506	C	A	46287506	3	1	41	1	0	0	0	0	1	0	0	0	4598	507	18	3	8	3	DMWD	19	46287506	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10	10496372	46287506	12841477	52	2927											
KLK14	43847	broad.mit.edu	37	chr19	51582886	51582886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggggtgcgtcacctgacGaaccacgcgcagcacctgct	7	7	13	14	4	1	1	1	1	0	0	1	2	1	1	3	2	4	4	3	2	1	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr19:51582886G>T	ENST00000156499.2	-	5	552	c.334C>A	c.(334-336)Cgt>Agt	p.R112S	KLK14_ENST00000391802.1_Missense_Mutation_p.R112S			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	112	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCACCTGACGAACCACGCGC	0.652																																					p.R112S	GBM(117;2161 2172 2448 22911)												.	KLK14	49		0			c.C334A												43	49	47					19																	51582886		2087	4208	6295	SO:0001583	missense	43847	exon5			CCTGACGAACCAC	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"Kallikreins"	6362	protein-coding gene	gene with protein product		606135	"kallikrein 14"			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.334C>A	19.37:g.51582886G>T	ENSP00000156499:p.Arg112Ser		47	0	0		67	0.04	3	NM_022046	1	0	0	A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	18.44	3.624538	0.66901	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.93076	-3.16;-3.16	5.04	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92642	0.7662	N	0.12611	0.24	0.39320	D	0.965234	D	0.57899	0.981	D	0.69307	0.963	D	0.94341	0.7570	9	0.56958	D	0.05	.	15.941	0.79754	0.0:0.0:1.0:0.0	.	112	Q9P0G3	KLK14_HUMAN	S	112	ENSP00000156499:R112S;ENSP00000375678:R112S	ENSP00000156499:R112S	R	-	1	0	KLK14	56274698	0.008000	0.16893	0.906000	0.35671	0.774000	0.43823	1.565000	0.36386	2.374000	0.81015	0.473000	0.43528	CGT			0.652	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000289774.2		NM_022046		T	51582886	G	T	51582886	3	4	41	1	0	0	0	0	1	0	0	0	8417	1058	37	1	481	1	KLK14	19	51582886	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	5295380	51582886	7546097	53	2928											
CSNK2A1	1457	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	485847	485847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttacctcggcctaattttCgaaccagctggtagtcatct	9	14	7	11	2	2	0	1	0	1	0	4	1	2	0	3	2	3	2	3	2	4	6			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr20:485847C>T	ENST00000217244.3	-	4	503	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R43Q|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R43Q	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GCCTAATTTTCGAACCAGCTG	0.338																																					p.R43Q													.	.			0			c.G128A												80	67	72					20																	485847		2203	4299	6502	SO:0001583	missense	1457	exon3			AATTTTCGAACCA	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.128G>A	20.37:g.485847C>T	ENSP00000217244:p.Arg43Gln		342	0	0		237	0.45	106	NM_001895	12	0.5	6	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344041	0.82022	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.07114	3.22;3.22;3.22	4.56	4.56	0.56223	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	0.05456	0.0144	N	0.25245	0.725	0.80722	D	1	P	0.49696	0.927	B	0.30943	0.122	T	0.45086	-0.9285	10	0.44086	T	0.13	-4.2591	16.8636	0.86024	0.0:1.0:0.0:0.0	.	43	P68400	CSK21_HUMAN	Q	43	ENSP00000383086:R43Q;ENSP00000339247:R43Q;ENSP00000217244:R43Q	ENSP00000217244:R43Q	R	-	2	0	CSNK2A1	433847	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.609000	0.82925	2.535000	0.85469	0.555000	0.69702	CGA			0.338	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077466.1		NM_001895		T	485847	C	T	485847	3	4	41	1	0	0	0	0	1	0	0	0	3959	884	31	1	1091	1	CSNK2A1	20	485847	Missense_Mutation	SNP	C	TCGA-2G-AAGX-01A-11D-A42Y-10		485847	62539673	54	2929											
TMX4	56255	broad.mit.edu	37	chr20	8000252	8000252	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggccgcagcgcccAcccgccatgttgggcgccga	5	4	15	17	6	0	0	0	0	0	0	0	1	0	0	5	2	3	3	5	2	0	1			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr20:8000252A>C	ENST00000246024.2	-	1	224	c.9T>G	c.(7-9)ggT>ggG	p.G3G	RP5-971N18.3_ENST00000457707.1_RNA|RP5-971N18.3_ENST00000607924.1_RNA	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	3					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CGCAGCGCCCACCCGCCATGT	0.761																																					p.G3G													.	TMX4	39		0			c.T9G												1	1	1					20																	8000252		958	2169	3127	SO:0001819	synonymous_variant	56255	exon1			GCGCCCACCCGCC		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.9T>G	20.37:g.8000252A>C			26	0.3461538462	9		36	0.5	18	NM_021156	1	0	0	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	CCDS13101.1																																																																																					0.761	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000077928.2		NM_021156		C	8000252	A	C	8000252	2	2	41	1	0	0	0	0	0	0	0	1	16292	146	6	4		4	TMX4	20	8000252	Silent	SNP	A	TCGA-2G-AAGX-01A-11D-A42Y-10	7514405	8000252	55025268	55	2930											
C20orf151	140893	ucsc.edu;bcgsc.ca	37	chr20	60988586	60988586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagctgggaccctggaaGtgggcgtgaggggtcctggg	5	7	21	8	1	0	2	0	2	0	0	1	4	1	4	2	6	1	2	2	6	1	0			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr20:60988586G>T	ENST00000252998.1	-	11	1702	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	516	Pro-rich.					extracellular space (GO:0005615)											GACCCTGGAAGTGGGCGTGAG	0.642																																					p.L516I													.	.			0			c.C1546A												30	32	31					20																	60988586		2198	4296	6494	SO:0001583	missense	0	exon11			CTGGAAGTGGGCG	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1546C>A	20.37:g.60988586G>T	ENSP00000252998:p.Leu516Ile		33	0.0303030303	1		36	0.11	4	NM_080833	9	0	0	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873596	0.17322	.	.	ENSG00000130701	ENST00000252998	T	0.20881	2.04	2.66	-0.499	0.12015	.	1.276350	0.05784	N	0.609212	T	0.14399	0.0348	L	0.42245	1.32	0.09310	N	1	B	0.33826	0.427	B	0.29176	0.099	T	0.27020	-1.0086	10	0.18276	T	0.48	-2.9167	4.1837	0.10388	0.2405:0.1925:0.567:0.0	.	516	Q8NC74	CT151_HUMAN	I	516	ENSP00000252998:L516I	ENSP00000252998:L516I	L	-	1	0	C20orf151	60421981	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.224000	0.17738	-0.072000	0.12864	-0.254000	0.11334	CTT			0.642	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080029.1		NM_080833		T	60988586	G	T	60988586	3	4	41	1	0	0	0	0	1	0	0	0	2093	1029	36	3	464	3	C20orf151	20	60988586	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10	52988334	60988586	2036934	56	2931											
ZNRF3	84133	mdanderson.org	37	chr22	29446361	29446361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccggagcagctggcagcaGcaccttgttcctggggcccc	5	6	14	16	2	0	0	0	0	0	0	1	1	1	1	5	4	4	6	5	4	0	2			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr22:29446361G>A	ENST00000544604.2	+	8	2367	c.2192G>A	c.(2191-2193)aGc>aAc	p.S731N	ZNRF3_ENST00000332811.4_Missense_Mutation_p.S631N|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S631N|ZNRF3_ENST00000402174.1_Missense_Mutation_p.S631N	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	731					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						GCTGGCAGCAGCACCTTGTTC	0.716																																					p.S731N													.	.			0			c.G2192A												9	11	11					22																	29446361		2000	4137	6137	SO:0001583	missense	84133	exon8			GCAGCAGCACCTT	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.2192G>A	22.37:g.29446361G>A	ENSP00000443824:p.Ser731Asn		18	0	0		24	0.08	2	NM_001206998	24	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	7.349	0.622528	0.14193	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.71	4.71	0.59529	.	0.321618	0.29159	N	0.012969	T	0.71668	0.3367	L	0.51422	1.61	0.22552	N	0.998999	B	0.16166	0.016	B	0.10450	0.005	T	0.63152	-0.6701	10	0.44086	T	0.13	-16.4591	12.5469	0.56206	0.0:0.1675:0.8325:0.0	.	731	Q9ULT6	ZNRF3_HUMAN	N	731;631;438;631;631	ENSP00000443824:S731N;ENSP00000328614:S631N;ENSP00000384456:S631N;ENSP00000384553:S631N	ENSP00000328614:S631N	S	+	2	0	ZNRF3	27776361	1.000000	0.71417	0.870000	0.34147	0.211000	0.24417	5.512000	0.67030	2.174000	0.68829	0.655000	0.94253	AGC			0.716	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972		A	29446361	G	A	29446361	3	1	41	1	0	0	0	0	1	0	0	0	18236	971	34	2	1918	2	ZNRF3	22	29446361	Missense_Mutation	SNP	G	TCGA-2G-AAGX-01A-11D-A42Y-10		29446361	21858205	57	2932											
NEFH	4744	hgsc.bcm.edu	37	chr22	29885638	29885638	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaggccaagtccccagTgaaggcagaagcaaagtccc	14	4	12	11	0	0	3	0	2	0	2	2	4	2	3	4	2	1	2	4	2	5	0	rs267607535|rs190692435		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr22:29885638T>A	ENST00000310624.6	+	4	2042	c.2009T>A	c.(2008-2010)gTg>gAg	p.V670E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	676	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGTCCCCAGTGAAGGCAGAA	0.562																																					p.V670E													NEFH,NS,lymphoid_neoplasm,0,1	NEFH	0	1	0			c.T2009A												93	100	98					22																	29885638		2203	4299	6502	SO:0001583	missense	4744	exon4			CCCCAGTGAAGGC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2009T>A	22.37:g.29885638T>A	ENSP00000311997:p.Val670Glu		185	0.0108108108	2		231	0.05	11	NM_021076	80	0.04	3	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.746577	0.00086	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.82344	-1.6	4.7	1.26	0.21427	.	1.045180	0.07584	N	0.920821	T	0.75162	0.3812	N	0.24115	0.695	0.09310	N	1	B	0.31640	0.333	B	0.41202	0.35	T	0.64050	-0.6498	10	0.45353	T	0.12	.	3.8398	0.08909	0.1553:0.2981:0.0:0.5465	.	676	P12036	NFH_HUMAN	E	670	ENSP00000311997:V670E	ENSP00000311997:V670E	V	+	2	0	NEFH	28215638	0.968000	0.33430	0.005000	0.12908	0.183000	0.23260	0.000000	0.12993	-0.045000	0.13468	0.402000	0.26972	GTG			0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321553.2		NM_021076		A	29885638	T	A	29885638	3	1	41	1	0	0	0	0	1	0	0	0	10331	1696	59	5	2023	5	NEFH	22	29885638	Missense_Mutation	SNP	T	TCGA-2G-AAGX-01A-11D-A42Y-10	439277	29885638	21418928	58	2933											
PLEKHN1	84069	bcgsc.ca	37	chr1	909421	909421	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggccgcagcccccagacgCccctcagcttgtgagtagca	7	5	13	16	2	1	2	1	1	0	1	1	2	1	2	5	2	3	4	5	2	1	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:909421C>A	ENST00000379409.2	+	13	1829	c.1799C>A	c.(1798-1800)gCc>gAc	p.A600D	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.A548D|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.A513D			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	600										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)		CCCCCAGACGCCCCTCAGCTT	0.711																																					p.A548D													.	PLEKHN1	49		0			c.C1643A												5	6	6					1																	909421		2027	4076	6103	SO:0001583	missense	84069	exon14			CAGACGCCCCTCA	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.1799C>A	1.37:g.909421C>A	ENSP00000368719:p.Ala600Asp		25	0	0		24	0	0	NM_032129	1	0	0	Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37		.	.	.	.	.	.	.	.	.	.	C	3.967	-0.009207	0.07727	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.44482	0.93;0.92;0.93	4.26	3.33	0.38152	.	0.620727	0.16539	N	0.210056	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B;B;B	0.26258	0.062;0.145;0.062	B;B;B	0.18561	0.022;0.022;0.015	T	0.11494	-1.0585	10	0.36615	T	0.2	-8.8721	7.3669	0.26779	0.0:0.8759:0.0:0.1241	.	513;600;548	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	D	548;513;600	ENSP00000368720:A548D;ENSP00000368717:A513D;ENSP00000368719:A600D	ENSP00000368717:A513D	A	+	2	0	PLEKHN1	899284	0.000000	0.05858	0.008000	0.14137	0.061000	0.15899	0.663000	0.25053	1.119000	0.41883	0.472000	0.43445	GCC			0.711	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000473256.1		NM_032129		A	909421	C	A	909421	3	1	42	1	0	0	0	0	1	0	0	0	12100	739	26	2	1733	2	PLEKHN1	1	909421	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		909421	248341200	1	2934											
KIF17	57576	mdanderson.org	37	chr1	21044035	21044035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccacgtggtaggcgccGtcgaaggtgaactgcttggg	6	9	17	9	4	0	1	0	1	0	0	2	2	1	1	2	5	2	2	2	5	3	2	rs369480851		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:21044035G>A	ENST00000247986.2	-	1	475	c.165C>T	c.(163-165)gaC>gaT	p.D55D	SH2D5_ENST00000460804.1_5'Flank|KIF17_ENST00000375044.1_5'Flank|KIF17_ENST00000400463.3_Silent_p.D55D			Q9P2E2	KIF17_HUMAN	kinesin family member 17	55	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGTAGGCGCCGTCGAAGGTGA	0.706																																					p.D55D													.	.			0			c.C165T												37	40	39					1																	21044035		2200	4286	6486	SO:0001819	synonymous_variant	57576	exon1			GGCGCCGTCGAAG	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.165C>T	1.37:g.21044035G>A			77	0	0		46	0.09	4	NM_020816	1	0	0	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																					0.706	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000276995.1		NM_020816		A	21044035	G	A	21044035	2	1	42	1	0	0	0	0	0	0	0	1	8294	1136	40	1		1	KIF17	1	21044035	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	20134614	21044035	228206586	2	2935											
CELA3B	23436	mdanderson.org	37	chr1	22307358	22307358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaagcttctaccacacCtgtggcggtagcctcatcgc	8	8	11	14	3	2	0	1	0	1	0	3	1	2	1	3	3	4	2	3	3	3	3	rs7528300	byFrequency	TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:22307358C>T	ENST00000337107.6	+	3	190	c.171C>T	c.(169-171)acC>acT	p.T57T	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	57	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCTACCACACCTGTGGCGGTA	0.637											OREG0013210	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T57T													.	.			0			c.C171T												22	14	16					1																	22307358		2140	4128	6268	SO:0001819	synonymous_variant	23436	exon3			CCACACCTGTGGC	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"proteinase E", "elastase 1", "cholesterol-binding pancreatic protease", "pancreatic endopeptidase E"		"elastase 3B, pancreatic"	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.171C>T	1.37:g.22307358C>T			85	0	0	755	84	0.04	3	NM_007352	0		0	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Silent	SNP	ENST00000337107.6	37	CCDS219.1																																																																																					0.637	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007797.1		NM_007352		T	22307358	C	T	22307358	2	4	42	1	0	0	0	0	0	0	0	1	3216	668	24	3		3	CELA3B	1	22307358	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	1263323	22307358	226943263	3	2936											
ILDR2	387597	mdanderson.org	37	chr1	166890129	166890129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccgggcggcgaccaagCgtagtaggaggcgctgcgcg	6	4	20	11	7	0	0	0	0	0	0	0	2	0	1	2	5	3	3	2	5	3	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:166890129C>T	ENST00000271417.3	-	9	1754	c.1699G>A	c.(1699-1701)Gct>Act	p.A567T	ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.A508T|ILDR2_ENST00000525740.1_Missense_Mutation_p.A440T|ILDR2_ENST00000526687.1_Missense_Mutation_p.A459T|ILDR2_ENST00000529071.1_Missense_Mutation_p.A548T|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	567					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						GGCGACCAAGCGTAGTAGGAG	0.751																																					p.A567T													.	.			0			c.G1699A												3	3	3					1																	166890129		1834	3675	5509	SO:0001583	missense	387597	exon9			ACCAAGCGTAGTA	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.1699G>A	1.37:g.166890129C>T	ENSP00000271417:p.Ala567Thr		20	0	0		12	0.17	2	NM_199351	5	0	0		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671321	0.88348	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T	0.78707	0.44;-1.2;0.43;-1.2;-0.19	4.76	3.84	0.44239	.	0.251529	0.39834	N	0.001245	T	0.66877	0.2834	L	0.56769	1.78	0.29723	N	0.838477	D	0.60575	0.988	P	0.48795	0.59	T	0.65384	-0.6181	9	0.21540	T	0.41	.	12.9493	0.58389	0.0:0.9211:0.0:0.0789	.	567	Q71H61	ILDR2_HUMAN	T	567;440;548;459;508	ENSP00000271417:A567T;ENSP00000436120:A440T;ENSP00000436882:A548T;ENSP00000434273:A459T;ENSP00000432750:A508T	ENSP00000271417:A567T	A	-	1	0	ILDR2	165156753	1.000000	0.71417	0.967000	0.41034	0.638000	0.38207	3.840000	0.55843	0.985000	0.38656	0.555000	0.69702	GCT			0.751	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082880.2		NM_199351		T	166890129	C	T	166890129	3	4	42	1	0	0	0	0	1	0	0	0	7725	768	27	1	228	1	ILDR2	1	166890129	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	144582771	166890129	82360492	4	2937											
SELP	6403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	169581527	169581527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttccggtccaactaatgCaaatccctcttcacaactga	12	10	4	15	1	2	1	1	1	1	0	5	1	5	1	3	1	3	1	3	1	4	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:169581527C>T	ENST00000263686.6	-	6	926	c.889G>A	c.(889-891)Gca>Aca	p.A297T	SELP_ENST00000458599.2_Missense_Mutation_p.A297T|SELP_ENST00000367794.2_Missense_Mutation_p.A297T|SELP_ENST00000367792.2_Missense_Mutation_p.A297T|SELP_ENST00000367793.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.A297T|SELP_ENST00000367786.2_Missense_Mutation_p.A297T|SELP_ENST00000367788.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	297	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CCAACTAATGCAAATCCCTCT	0.502																																					p.A297T													.	.			0			c.G889A												128	112	118					1																	169581527		2203	4300	6503	SO:0001583	missense	6403	exon6			CTAATGCAAATCC	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.889G>A	1.37:g.169581527C>T	ENSP00000263686:p.Ala297Thr		131	0	0		161	0.17	28	NM_003005	9	0	0	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.508|1.508	-0.550162|-0.550162	0.03996|0.03996	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06|.	5.39|5.39	-0.798|-0.798	0.10905|0.10905	Complement control module (2);Sushi/SCR/CCP (3);|.	1.575510|.	0.03852|.	N|.	0.272385|.	T|T	0.02267|0.02267	0.0070|0.0070	N|N	0.01267|0.01267	-0.92|-0.92	0.09310|0.09310	N|N	1|1	B;B;B|.	0.10296|.	0.001;0.003;0.002|.	B;B;B|.	0.15870|.	0.005;0.014;0.003|.	T|T	0.46275|0.46275	-0.9203|-0.9203	10|5	0.15066|.	T|.	0.55|.	.|.	6.8958|6.8958	0.24255|0.24255	0.0:0.4467:0.1198:0.4335|0.0:0.4467:0.1198:0.4335	.|.	297;297;297|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	T|Y	297;297;296;297;297;297;297;297;297;297;282|296	ENSP00000263686:A297T;ENSP00000356768:A297T;ENSP00000356766:A297T;ENSP00000356765:A297T;ENSP00000356760:A297T|.	ENSP00000263686:A297T|.	A|C	-|-	1|2	0|0	SELP|SELP	167848151|167848151	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.104000|0.104000	0.19210|0.19210	-0.955000|-0.955000	0.03869|0.03869	-0.042000|-0.042000	0.13535|0.13535	-0.157000|-0.157000	0.13467|0.13467	GCA|TGC			0.502	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000083916.4		NM_003005		T	169581527	C	T	169581527	3	4	42	1	0	0	0	0	1	0	0	0	14042	710	25	2	1647	2	SELP	1	169581527	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	2691398	169581527	79669094	5	2938											
TNR	7143	broad.mit.edu	37	chr1	175372735	175372735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgtggccactgcagtgagGgatatagtccagttgtcctg	7	10	14	10	1	0	1	0	1	0	0	2	2	2	2	4	2	1	2	4	2	2	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:175372735G>T	ENST00000367674.2	-	4	1225	c.517C>A	c.(517-519)Cct>Act	p.P173T	TNR_ENST00000263525.2_Missense_Mutation_p.P173T			Q92752	TENR_HUMAN	tenascin R	173	Cys-rich.				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)					CTGCAGTGAGGGATATAGTCC	0.557																																					p.P173T													.	TNR	399		0			c.C517A												70	72	71					1																	175372735		2203	4300	6503	SO:0001583	missense	7143	exon4			AGTGAGGGATATA	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.517C>A	1.37:g.175372735G>T	ENSP00000356646:p.Pro173Thr		90	0.0222222222	2		135	0.02	3	NM_003285	1	0	0	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210441	0.79240	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.30714	1.52;1.52	6.02	6.02	0.97574	.	0.059940	0.64402	D	0.000002	T	0.39332	0.1074	L	0.45352	1.415	0.58432	D	0.999995	D;D	0.59767	0.958;0.986	P;P	0.55455	0.558;0.776	T	0.01863	-1.1258	10	0.21014	T	0.42	.	14.6737	0.68964	0.0707:0.0:0.9293:0.0	.	173;173	B4DIX8;Q92752	.;TENR_HUMAN	T	173	ENSP00000356646:P173T;ENSP00000263525:P173T	ENSP00000263525:P173T	P	-	1	0	TNR	173639358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.854000	0.86942	2.865000	0.98341	0.655000	0.94253	CCT			0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084414.4		NM_003285		T	175372735	G	T	175372735	3	4	42	1	0	0	0	0	1	0	0	0	16361	1232	43	3	3639	3	TNR	1	175372735	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	5791208	175372735	73877886	6	2939											
TOR1AIP2	163590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	179820097	179820097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgagatgctccagttcCgtcactcgcttccttaggga	6	13	9	13	2	1	1	1	1	0	1	6	3	5	2	4	1	1	3	4	1	1	4			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:179820097C>T	ENST00000367612.3	-	4	823	c.436G>A	c.(436-438)Gga>Aga	p.G146R	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.G146R	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GCTCCAGTTCCGTCACTCGCT	0.562																																					p.G146R													.	.			0			c.G436A												108	105	106					1																	179820097		2203	4300	6503	SO:0001583	missense	163590	exon5			CAGTTCCGTCACT		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.436G>A	1.37:g.179820097C>T	ENSP00000356584:p.Gly146Arg		152	0	0		177	0.21	38	NM_001199260	26	0.12	3	Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	C	2.371	-0.344239	0.05208	.	.	ENSG00000169905	ENST00000367612	T	0.24538	1.85	5.49	-3.57	0.04612	.	1.704950	0.02906	N	0.136024	T	0.17534	0.0421	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.30297	-0.9983	10	0.11794	T	0.64	0.1127	12.4933	0.55912	0.0:0.6513:0.0:0.3487	.	146	Q8NFQ8	TOIP2_HUMAN	R	146	ENSP00000356584:G146R	ENSP00000356584:G146R	G	-	1	0	TOR1AIP2	178086720	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.755000	0.04782	-1.000000	0.03438	-0.471000	0.05019	GGA			0.562	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085304.1		NM_145034		T	179820097	C	T	179820097	3	4	42	1	0	0	0	0	1	0	0	0	16397	661	23	1	988	1	TOR1AIP2	1	179820097	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	4447362	179820097	69430524	7	2940											
CACNA1S	779	ucsc.edu	37	chr1	201035437	201035437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcaccacggagatggCactggacctggggggcggca	8	6	16	11	2	2	1	1	0	1	1	2	4	2	2	2	7	0	2	2	7	0	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:201035437C>T	ENST00000362061.3	-	21	2891	c.2665G>A	c.(2665-2667)Gcc>Acc	p.A889T	CACNA1S_ENST00000367338.3_Missense_Mutation_p.A889T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	889					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)	ACGGAGATGGCACTGGACCTG	0.657																																					p.A889T													.	CACNA1S	249		0			c.G2665A												53	54	54					1																	201035437		2203	4300	6503	SO:0001583	missense	779	exon21			AGATGGCACTGGA	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.2665G>A	1.37:g.201035437C>T	ENSP00000355192:p.Ala889Thr		17	0	0		39	0.1	4	NM_000069	9	0	0	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	c	10.00	1.233152	0.22626	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98567	-5.0;-5.0	3.92	-7.03	0.01584	Ion transport (1);	0.568663	0.18574	N	0.137254	D	0.93588	0.7953	L	0.33293	1	0.28598	N	0.909307	B	0.06786	0.001	B	0.20384	0.029	T	0.82592	-0.0381	10	0.45353	T	0.12	.	7.639	0.28282	0.1008:0.4142:0.0:0.4851	.	889	Q13698	CAC1S_HUMAN	T	889	ENSP00000355192:A889T;ENSP00000356307:A889T	ENSP00000355192:A889T	A	-	1	0	CACNA1S	199302060	0.000000	0.05858	0.166000	0.22797	0.320000	0.28249	-0.307000	0.08167	-1.849000	0.01171	-1.212000	0.01626	GCC			0.657	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087049.1		NM_000069		T	201035437	C	T	201035437	3	4	42	1	0	0	0	0	1	0	0	0	2549	710	25	2	3052	2	CACNA1S	1	201035437	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	21215340	201035437	48215184	8	2941											
AVPR1B	553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	206224555	206224555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggccaaggtggagatcGgagtcctggccactgtcctg	7	8	15	11	1	0	1	0	0	0	1	3	3	2	2	4	5	1	1	4	5	1	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:206224555G>A	ENST00000367126.4	+	1	580	c.115G>A	c.(115-117)Gga>Aga	p.G39R	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	39					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGTGGAGATCGGAGTCCTGGC	0.687																																					p.G39R													.	.			0			c.G115A												80	93	89					1																	206224555		2203	4300	6503	SO:0001583	missense	553	exon1			GAGATCGGAGTCC	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.115G>A	1.37:g.206224555G>A	ENSP00000356094:p.Gly39Arg		157	0	0		182	0.23	42	NM_000707	1	1	1	B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093761	0.36952	.	.	ENSG00000198049	ENST00000367126	T	0.28069	1.63	5.06	5.06	0.68205	.	0.426066	0.21507	N	0.073440	T	0.37046	0.0989	L	0.59436	1.845	0.09310	N	0.999999	P	0.42827	0.791	B	0.41412	0.356	T	0.36768	-0.9734	10	0.72032	D	0.01	-1.8765	18.211	0.89869	0.0:0.0:1.0:0.0	.	39	P47901	V1BR_HUMAN	R	39	ENSP00000356094:G39R	ENSP00000356094:G39R	G	+	1	0	AVPR1B	204391178	0.813000	0.29090	0.176000	0.23000	0.661000	0.39034	4.831000	0.62752	2.633000	0.89246	0.609000	0.83330	GGA			0.687	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087996.1		NM_000707		A	206224555	G	A	206224555	3	1	42	1	0	0	0	0	1	0	0	0	1232	1117	39	1	117	1	AVPR1B	1	206224555	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	5189118	206224555	43026066	9	2942											
PIGR	5284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr1	207110937	207110937	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctgtatagttgggatttAcataaccactggagtcgatg	10	14	10	7	1	0	0	0	0	0	0	2	3	1	2	2	2	2	2	2	2	4	7			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr1:207110937A>C	ENST00000356495.4	-	4	731	c.548T>G	c.(547-549)gTa>gGa	p.V183G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	183	Ig-like V-type 2.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTTGGGATTTACATAACCACT	0.478																																					p.V183G													.	.			0			c.T548G												92	79	84					1																	207110937		2203	4300	6503	SO:0001583	missense	5284	exon4			GGATTTACATAAC		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.548T>G	1.37:g.207110937A>C	ENSP00000348888:p.Val183Gly		132	0	0		148	0.14	21	NM_002644	84	0.26	22	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123703	0.56613	.	.	ENSG00000162896	ENST00000356495	T	0.04454	3.62	6.08	-4.25	0.03766	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.521620	0.03537	N	0.223364	T	0.14485	0.0350	M	0.73962	2.25	0.19945	N	0.999947	D	0.69078	0.997	D	0.66847	0.947	T	0.37009	-0.9724	10	0.66056	D	0.02	-24.6357	0.9742	0.01422	0.2926:0.1065:0.1874:0.4135	.	183	P01833	PIGR_HUMAN	G	183	ENSP00000348888:V183G	ENSP00000348888:V183G	V	-	2	0	PIGR	205177560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.393000	0.07305	-1.099000	0.03034	-0.256000	0.11100	GTA			0.478	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088975.1		NM_002644		C	207110937	A	C	207110937	3	2	42	1	0	0	0	0	1	0	0	0	11914	391	14	4	1778	4	PIGR	1	207110937	Missense_Mutation	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	886382	207110937	42139684	10	2943											
CCDC85A	114800	mdanderson.org	37	chr2	56411850	56411850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtccgcggccccgcccGcgccggtggaggacctgtcc	2	5	15	19	7	0	0	0	0	0	0	3	2	2	2	7	4	0	1	7	4	0	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr2:56411850G>T	ENST00000407595.2	+	1	593	c.91G>T	c.(91-93)Gcg>Tcg	p.A31S	RP11-482H16.1_ENST00000607540.1_RNA|AC007743.1_ENST00000447423.2_RNA|AC007743.1_ENST00000432793.1_RNA|AC007743.1_ENST00000596663.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	31	Ala-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ggccccgcccgcgccggTGGA	0.741																																					p.A31S													.	.			0			c.G91T												4	7	6					2																	56411850		1202	2442	3644	SO:0001583	missense	114800	exon1			CCGCCCGCGCCGG	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.91G>T	2.37:g.56411850G>T	ENSP00000384040:p.Ala31Ser		29	0	0		25	0.08	2	NM_001080433	3	0	0		Missense_Mutation	SNP	ENST00000407595.2	37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	2.358	-0.347287	0.05208	.	.	ENSG00000055813	ENST00000407595	.	.	.	2.55	0.578	0.17391	.	0.519804	0.19694	N	0.108188	T	0.23014	0.0556	N	0.24115	0.695	0.09310	N	0.999992	B	0.20164	0.042	B	0.23419	0.046	T	0.16867	-1.0388	9	0.20519	T	0.43	-13.3097	5.4215	0.16403	0.2957:0.0:0.7043:0.0	.	31	Q96PX6	CC85A_HUMAN	S	31	.	ENSP00000384040:A31S	A	+	1	0	CCDC85A	56265354	.	.	0.028000	0.17463	0.174000	0.22865	.	.	0.148000	0.19059	0.416000	0.27883	GCG			0.741	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324993.1				T	56411850	G	T	56411850	3	4	42	1	0	0	0	0	1	0	0	0	2861	1087	38	1	93	1	CCDC85A	2	56411850	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10		56411850	186787523	11	2944											
MAT2A	4144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	85769043	85769043	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaatgccaaactggcagAactacgccgtaatggcactt	13	8	9	11	2	0	1	0	0	0	1	0	1	0	1	2	2	4	4	2	2	6	4			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr2:85769043A>G	ENST00000306434.3	+	5	620	c.497A>G	c.(496-498)gAa>gGa	p.E166G	MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Missense_Mutation_p.E103G	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	166					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)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAACTGGCAGAACTACGCCGT	0.418																																					p.E166G													.	.			0			c.A497G												111	92	98					2																	85769043		2203	4300	6503	SO:0001583	missense	4144	exon5			TGGCAGAACTACG		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.497A>G	2.37:g.85769043A>G	ENSP00000303147:p.Glu166Gly		88	0	0		100	0.26	26	NM_005911	514	0.3	156	A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563306	0.86335	.	.	ENSG00000168906	ENST00000306434;ENST00000409017	D;D	0.83992	-1.79;-1.79	5.89	5.89	0.94794	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.89214	3.015	0.80722	D	1	P;P	0.43701	0.557;0.815	P;P	0.50231	0.635;0.635	D	0.91283	0.5053	10	0.87932	D	0	-19.9176	14.263	0.66097	1.0:0.0:0.0:0.0	.	166;166	B4DEX8;P31153	.;METK2_HUMAN	G	166;103	ENSP00000303147:E166G;ENSP00000386353:E103G	ENSP00000303147:E166G	E	+	2	0	MAT2A	85622554	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.962000	0.93254	2.257000	0.74773	0.460000	0.39030	GAA			0.418	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252491.2		NM_005911		G	85769043	A	G	85769043	3	3	42	1	0	0	0	0	1	0	0	0	9346	246	9	4	515	4	MAT2A	2	85769043	Missense_Mutation	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	29357193	85769043	157430330	12	2945											
TTN	7273	broad.mit.edu	37	chr2	179473629	179473629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagttgattggtggtcccGgtgtatctaatatttcagaa	11	14	10	6	1	2	2	1	1	1	1	3	2	3	2	1	3	0	2	1	3	5	6			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr2:179473629G>A	ENST00000591111.1	-	224	47410	c.47186C>T	c.(47185-47187)cCg>cTg	p.P15729L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P17370L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8430L|TTN_ENST00000460472.2_Missense_Mutation_p.P8305L|TTN_ENST00000342992.6_Missense_Mutation_p.P14802L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P8497L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15729					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)			TGGTGGTCCCGGTGTATCTAA	0.388																																					p.P17370L													TTN_ENST00000359218,NS,carcinoma,+1,10	TTN	18412	10	0			c.C52109T												110	104	106					2																	179473629		1837	4079	5916	SO:0001583	missense	7273	exon274			GGTCCCGGTGTAT	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.47186C>T	2.37:g.179473629G>A	ENSP00000465570:p.Pro15729Leu		45	0	0		63	0.05	3	NM_001267550	0		0	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		.	.	.	.	.	.	.	.	.	.	G	13.08	2.129271	0.37533	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.64	5.64	0.86602	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95404	0.8508	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.95963	0.8963	9	0.87932	D	0	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	8305;8430;8497;15729	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	14802;8305;8497;8430;8305	ENSP00000343764:P14802L;ENSP00000434586:P8305L;ENSP00000340554:P8497L;ENSP00000352154:P8430L	ENSP00000340554:P8497L	P	-	2	0	TTN	179181874	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.807000	0.99171	2.654000	0.90174	0.563000	0.77884	CCG			0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		A	179473629	G	A	179473629	3	1	42	1	0	0	0	0	1	0	0	0	16759	1116	39	1	55940	1	TTN	2	179473629	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	93704586	179473629	63725744	13	2946											
INO80D	54891	broad.mit.edu	37	chr2	206869700	206869700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actatcataatggcttccatGgggtgaggagtgtgagtgat	10	12	14	5	0	1	3	1	3	0	0	2	4	2	4	1	4	0	1	1	4	2	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr2:206869700G>T	ENST00000403263.1	-	11	2880	c.2476C>A	c.(2476-2478)Cat>Aat	p.H826N	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	826					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						TGGCTTCCATGGGGTGAGGAG	0.527																																					p.H826N													.	INO80D	134		0			c.C2476A												272	261	264					2																	206869700		2148	4265	6413	SO:0001583	missense	54891	exon11			TTCCATGGGGTGA		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.2476C>A	2.37:g.206869700G>T	ENSP00000384198:p.His826Asn		146	0	0		122	0.02	3	NM_017759	5	0	0	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576541	0.45902	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.31510	1.49	5.91	5.91	0.95273	.	0.210963	0.50627	D	0.000104	T	0.23492	0.0568	N	0.14661	0.345	0.47819	D	0.999526	B	0.26547	0.152	B	0.21917	0.037	T	0.03673	-1.1014	10	0.46703	T	0.11	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	826	Q53TQ3-2	.	N	826	ENSP00000384198:H826N	ENSP00000233270:H826N	H	-	1	0	INO80D	206577945	1.000000	0.71417	0.992000	0.48379	0.854000	0.48673	9.230000	0.95299	2.793000	0.96121	0.655000	0.94253	CAT			0.527	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336459.1		NM_017759		T	206869700	G	T	206869700	3	4	42	1	0	0	0	0	1	0	0	0	7764	1348	47	3	611	3	INO80D	2	206869700	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	27396071	206869700	36329673	14	2947											
DYTN	391475	mdanderson.org	37	chr2	207559536	207559536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacttctgatgggacttgCtgtgaagaccagataagaaa	14	9	12	6	0	1	6	0	2	1	4	1	8	1	7	1	1	1	1	1	1	3	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr2:207559536C>T	ENST00000452335.2	-	8	901	c.785G>A	c.(784-786)aGc>aAc	p.S262N		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	262						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ATGGGACTTGCTGTGAAGACC	0.398																																					p.S262N													.	.			0			c.G785A												127	125	126					2																	207559536		1935	4152	6087	SO:0001583	missense	391475	exon8			GACTTGCTGTGAA	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.785G>A	2.37:g.207559536C>T	ENSP00000396593:p.Ser262Asn		70	0	0		52	0.06	3	NM_001093730	0		0		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466914	0.63625	.	.	ENSG00000232125	ENST00000452335	D	0.91686	-2.89	5.22	1.15	0.20763	Zinc finger, ZZ-type (3);	.	.	.	.	D	0.84465	0.5478	L	0.28192	0.835	0.21416	N	0.999691	B	0.14012	0.009	B	0.12837	0.008	T	0.74022	-0.3798	9	0.62326	D	0.03	2.5564	5.5962	0.17329	0.1386:0.6259:0.0:0.2356	.	262	A2CJ06	DYTN_HUMAN	N	262	ENSP00000396593:S262N	ENSP00000396593:S262N	S	-	2	0	DYTN	207267781	0.001000	0.12720	0.970000	0.41538	0.983000	0.72400	-0.193000	0.09573	0.254000	0.21573	0.561000	0.74099	AGC			0.398	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336799.1				T	207559536	C	T	207559536	3	4	42	1	0	0	0	0	1	0	0	0	4866	797	28	2	971	2	DYTN	2	207559536	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	689836	207559536	35639837	15	2948											
COL6A3	1293	bcgsc.ca	37	chr2	238253730	238253730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgatgctttggatgaggGcacattgctttaaaagaaaa	13	13	10	5	0	0	3	0	2	0	1	0	4	0	4	0	2	2	3	0	2	4	5			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr2:238253730G>T	ENST00000295550.4	-	34	7585	c.7133C>A	c.(7132-7134)gCc>gAc	p.A2378D	COL6A3_ENST00000472056.1_Missense_Mutation_p.A1771D|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2178D|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2172D|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2177D|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2172D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2378	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGATGAGGGCACATTGCTT	0.348																																					p.A2378D													.	COL6A3	608		0			c.C7133A												86	84	85					2																	238253730		2203	4300	6503	SO:0001583	missense	1293	exon34			ATGAGGGCACATT	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.7133C>A	2.37:g.238253730G>T	ENSP00000295550:p.Ala2378Asp		164	0.006097561	1		151	0	0	NM_004369	1067	0	1	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123127	0.20959	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.87966	-2.32;-2.3;-2.28;-2.28;-2.28;-2.27	5.31	1.05	0.20165	.	0.815598	0.10724	N	0.641347	T	0.82061	0.4955	N	0.12502	0.225	0.38948	D	0.958284	B;B;B;D	0.60575	0.003;0.0;0.005;0.988	B;B;B;P	0.55965	0.003;0.002;0.004;0.788	T	0.74106	-0.3772	10	0.11794	T	0.64	.	12.765	0.57386	0.0:0.5148:0.3699:0.1152	.	1771;1771;2172;2378	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	D	2378;2177;2172;1771;2172;2178	ENSP00000295550:A2378D;ENSP00000315609:A2177D;ENSP00000315873:A2172D;ENSP00000418285:A1771D;ENSP00000386844:A2172D;ENSP00000295546:A2178D	ENSP00000295550:A2378D	A	-	2	0	COL6A3	237918469	0.930000	0.31532	0.837000	0.33122	0.772000	0.43724	2.028000	0.41088	0.611000	0.30052	-0.165000	0.13383	GCC			0.348	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315790.2		NM_004369		T	238253730	G	T	238253730	3	4	42	1	0	0	0	0	1	0	0	0	3703	1203	42	2	2444	2	COL6A3	2	238253730	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	30694194	238253730	4945643	16	2949											
NUP210	23225	mdanderson.org	37	chr3	13373825	13373825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttatatatgagttgggCgacattaatatttgttctgc	10	17	9	5	1	1	1	0	1	1	0	1	2	1	1	0	1	2	3	0	1	5	9	rs147322542		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr3:13373825C>T	ENST00000254508.5	-	29	3985	c.3903G>A	c.(3901-3903)tcG>tcA	p.S1301S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1301					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATGAGTTGGGCGACATTAATA	0.483																																					p.S1301S													.	.			0			c.G3903A							C		2,4404	4.2+/-10.8	0,2,2201	271	262	265		3903	-4.7	1	3	dbSNP_134	265	0,8600		0,0,4300	no	coding-synonymous	NUP210	NM_024923.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1301/1888	13373825	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23225	exon29			GTTGGGCGACATT	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3903G>A	3.37:g.13373825C>T			69	0	0		53	0.06	3	NM_024923	147	0	0	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																			0		0.483	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340085.1		NM_024923		T	13373825	C	T	13373825	2	4	42	1	0	0	0	0	0	0	0	1	10777	755	27	1		1	NUP210	3	13373825	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		13373825	184648605	17	2950											
MRPS25	64432	bcgsc.ca	37	chr3	15094113	15094115	+	In_Frame_Del	DEL	CTC	CTC	-																															gggtgagaaagctgctttttCtcctcctcctcttccctgag																										TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	CTC	CTC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr3:15094113_15094115delCTC	ENST00000253686.2	-	4	495_497	c.355_357delGAG	c.(355-357)gagdel	p.E119del	MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000496484.1_5'Flank|MRPS25_ENST00000444840.2_In_Frame_Del_p.89_90RR>R	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	119						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GCTGCTTTTTCTCCTCCTCCTCT	0.586																																					p.119_119del													.	MRPS25	14		0			c.355_357del									1,4265		0,1,2132						4.7	0.8			140	1,8253		0,1,4126	no	coding	MRPS25	NM_022497.3		0,2,6258	A1A1,A1R,RR		0.0121,0.0234,0.016				2,12518				SO:0001651	inframe_deletion	64432	exon4			CTTTTTCTCCTCC	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"Mitochondrial ribosomal proteins / small subunits"	14511	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S25"	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.355_357delGAG	3.37:g.15094122_15094124delCTC	ENSP00000253686:p.Glu119del		106	0	0		89	0	0	NM_022497	153	0	0	B4DFJ5|B4DQG6|Q9H7P5	In_Frame_Del	DEL	ENST00000253686.2	37	CCDS2622.1																																																																																					0.586	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252076.2		NM_022497		-	15094115	CTC	-	15094113	7	5	42	1	0	1	0	1	0	0	0	0	9852	912	32	0	168	0	MRPS25	3	15094113	In_Frame_Del	DEL	CTC	TCGA-2G-AAGY-01A-11D-A42Y-10	1720288	15094113	182928317	18	2951											
SCN11A	11280	broad.mit.edu	37	chr3	38991741	38991741	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtctggtctttagacttcTttttctccttttggatggca	4	20	8	9	0	4	1	0	0	4	1	5	2	4	2	1	3	0	1	1	3	1	7			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr3:38991741T>C	ENST00000302328.3	-	1	311	c.113A>G	c.(112-114)aAg>aGg	p.K38R	SCN11A_ENST00000450244.1_Missense_Mutation_p.K38R|SCN11A_ENST00000456224.3_Missense_Mutation_p.K38R|SCN11A_ENST00000444237.2_Missense_Mutation_p.K38R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	38					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)	TTTAGACTTCTTTTTCTCCTT	0.517																																					p.K38R													.	SCN11A	296		0			c.A113G												140	134	136					3																	38991741		2203	4300	6503	SO:0001583	missense	11280	exon1			GACTTCTTTTTCT	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.113A>G	3.37:g.38991741T>C	ENSP00000307599:p.Lys38Arg		135	0	0		131	0.03	4	NM_014139	9	0	0	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843145	0.16963	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96685	-4.09;-4.09;-4.04;-3.95	5.41	4.24	0.50183	.	0.674126	0.15566	N	0.255690	D	0.92844	0.7724	L	0.43923	1.385	0.23872	N	0.996602	B	0.02656	0.0	B	0.09377	0.004	D	0.84759	0.0761	10	0.36615	T	0.2	.	8.3468	0.32277	0.0:0.1006:0.0:0.8994	.	38	Q9UI33	SCNBA_HUMAN	R	38	ENSP00000307599:K38R;ENSP00000400945:K38R;ENSP00000416757:K38R;ENSP00000408028:K38R	ENSP00000307599:K38R	K	-	2	0	SCN11A	38966745	0.914000	0.31030	0.561000	0.28357	0.052000	0.14988	2.371000	0.44248	0.881000	0.35993	0.533000	0.62120	AAG			0.517	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109746.4		NM_014139		C	38991741	T	C	38991741	3	2	42	1	0	0	0	0	1	0	0	0	13936	1609	56	4	5366	4	SCN11A	3	38991741	Missense_Mutation	SNP	T	TCGA-2G-AAGY-01A-11D-A42Y-10	23897628	38991741	159030689	19	2952											
MAML3	55534	broad.mit.edu	37	chr4	140640915	140640915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcttggtcagtctcggctgCccagcttgaagagggtagct	6	11	14	10	1	2	2	1	1	1	1	3	2	2	2	1	3	4	5	1	3	2	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr4:140640915C>T	ENST00000509479.2	-	5	3835	c.2979G>A	c.(2977-2979)ggG>ggA	p.G993G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTCTCGGCTGCCCAGCTTGAA	0.587																																					p.G989G													.	MAML3	192		0			c.G2967A												42	45	44					4																	140640915		2085	4209	6294	SO:0001819	synonymous_variant	55534	exon6			CGGCTGCCCAGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2979G>A	4.37:g.140640915C>T			72	0	0		49	0.06	3	NM_018717	29	0	0		Silent	SNP	ENST00000509479.2	37	CCDS54805.1																																																																																					0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364934.2				T	140640915	C	T	140640915	2	4	42	1	0	0	0	0	0	0	0	1	9223	726	26	2		2	MAML3	4	140640915	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		140640915	50513361	20	2953											
CLGN	1047	bcgsc.ca	37	chr4	141311836	141311836	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcttgcccttctatGatttcaatttcttcttcact	5	22	2	12	0	7	1	2	1	5	0	7	1	7	1	1	0	1	0	1	0	2	9			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr4:141311836G>T	ENST00000325617.5	-	14	2138	c.1698C>A	c.(1696-1698)atC>atA	p.I566I	CLGN_ENST00000414773.1_Silent_p.I566I|CLGN_ENST00000537281.1_Silent_p.I566I	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	566					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GCCCTTCTATGATTTCAATTT	0.323																																					p.I566I													.	CLGN	76		0			c.C1698A												180	165	170					4																	141311836		2202	4298	6500	SO:0001819	synonymous_variant	1047	exon15			TTCTATGATTTCA	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1698C>A	4.37:g.141311836G>T			186	0	0		152	0	0	NM_001130675	168	0	0	B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	37	CCDS3751.1																																																																																					0.323	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257272.2		NM_004362		T	141311836	G	T	141311836	2	4	42	1	0	0	0	0	0	0	0	1	3526	1280	45	3		3	CLGN	4	141311836	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	670921	141311836	49842440	21	2954											
ADCY2	108	bcgsc.ca	37	chr5	7743791	7743791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggtagaacgtccgtcCtgggcatctcctttggggct	4	12	12	13	3	1	1	0	0	1	1	5	1	4	1	4	4	1	3	4	4	2	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr5:7743791C>T	ENST00000338316.4	+	15	1971	c.1882C>T	c.(1882-1884)Ctg>Ttg	p.L628L	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.L448L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	628					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						AACGTCCGTCCTGGGCATCTC	0.498																																					p.L628L													.	ADCY2	337		0			c.C1882T												360	321	334					5																	7743791		2203	4300	6503	SO:0001819	synonymous_variant	108	exon15			TCCGTCCTGGGCA	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.1882C>T	5.37:g.7743791C>T			201	0	0		126	0	0	NM_020546	13	0	0	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																					0.498	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206930.2		NM_020546		T	7743791	C	T	7743791	2	4	42	1	0	0	0	0	0	0	0	1	294	680	24	3		3	ADCY2	5	7743791	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		7743791	173171469	22	2955											
C5orf33	133686	mdanderson.org	37	chr5	36197730	36197730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtatttttggttcttccGgactgtagagcagtgattca	10	15	10	6	1	2	2	1	1	1	1	3	3	3	3	1	2	1	4	1	2	3	7	rs368195000		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr5:36197730G>T	ENST00000381937.4	-	11	1102	c.1103C>A	c.(1102-1104)cCg>cAg	p.P368Q	NADK2_ENST00000506945.1_Missense_Mutation_p.P227Q|NADK2_ENST00000514504.1_Missense_Mutation_p.P336Q|NADK2_ENST00000397338.1_Missense_Mutation_p.P205Q|NADK2_ENST00000282512.3_Missense_Mutation_p.P205Q|NADK2_ENST00000511613.1_5'UTR	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	368					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										TGGTTCTTCCGGACTGTAGAG	0.358																																					p.P368Q													.	.			0			c.C1103A												82	76	78					5																	36197730		2203	4300	6503	SO:0001583	missense	133686	exon11			TCTTCCGGACTGT	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.1103C>A	5.37:g.36197730G>T	ENSP00000371362:p.Pro368Gln		73	0	0		47	0.06	3	NM_001085411	74	0	0	B5MC93|Q6UTX5|Q96NM0	Missense_Mutation	SNP	ENST00000381937.4	37	CCDS47197.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612558	0.87258	.	.	ENSG00000152620	ENST00000397338;ENST00000282512;ENST00000381937;ENST00000506945;ENST00000514504	.	.	.	5.74	4.84	0.62591	ATP-NAD kinase, PpnK-type, all-beta (1);	0.049703	0.85682	D	0.000000	D	0.82986	0.5156	M	0.86178	2.8	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.997	D;D;D	0.74023	0.943;0.982;0.916	D	0.85416	0.1140	9	0.66056	D	0.02	-13.912	16.1937	0.82011	0.0:0.0:0.8664:0.1336	.	227;336;368	B7Z8V7;Q4G0N4-2;Q4G0N4	.;.;NAKD1_HUMAN	Q	205;205;368;227;336	.	ENSP00000282512:P205Q	P	-	2	0	NADKD1	36233487	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.871000	0.92346	2.702000	0.92279	0.591000	0.81541	CCG			0.358	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367541.1		NM_153013		T	36197730	G	T	36197730	3	4	42	1	0	0	0	0	1	0	0	0	2294	1116	39	1	233	1	C5orf33	5	36197730	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	28453939	36197730	144717530	23	2956											
C5orf33	133686	bcgsc.ca	37	chr5	36211999	36211999	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtgctctcactggcagAagttggggtcctgaagcctc	7	12	12	10	0	1	2	1	1	1	1	4	2	2	2	2	3	2	3	2	3	3	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr5:36211999A>T	ENST00000381937.4	-	7	806	c.807T>A	c.(805-807)ctT>ctA	p.L269L	NADK2_ENST00000506945.1_Silent_p.L106L|NADK2_ENST00000514504.1_Silent_p.L269L|NADK2_ENST00000397338.1_Silent_p.L106L|NADK2_ENST00000282512.3_Silent_p.L106L|NADK2_ENST00000511613.1_5'UTR	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	269					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										TCACTGGCAGAAGTTGGGGTC	0.368																																					p.L269L													.	NADKD1	47		0			c.T807A												121	125	124					5																	36211999		2203	4300	6503	SO:0001819	synonymous_variant	133686	exon7			TGGCAGAAGTTGG	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.807T>A	5.37:g.36211999A>T			82	0	0		49	0	0	NM_001085411	68	0	0	B5MC93|Q6UTX5|Q96NM0	Silent	SNP	ENST00000381937.4	37	CCDS47197.1																																																																																					0.368	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367541.1		NM_153013		T	36211999	A	T	36211999	2	4	42	1	0	0	0	0	0	0	0	1	2294	233	9	5		5	C5orf33	5	36211999	Silent	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	14269	36211999	144703261	24	2957											
PCDHGA8	9708	hgsc.bcm.edu	37	chr5	140773214	140773214	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcaacggaaaagtggcAtacaaattccggaaaattaa	19	7	9	6	2	1	0	1	0	0	0	2	3	2	3	1	4	2	1	1	4	9	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr5:140773214A>T	ENST00000398604.2	+	1	834	c.834A>T	c.(832-834)gcA>gcT	p.A278A	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A278A(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCC	0.423																																					p.A278A													PCDHGA8,NS,carcinoma,0,1	PCDHGA8	0	1	1	Substitution - coding silent(1)	kidney(1)	c.A834T												71	75	74					5																	140773214		1847	4096	5943	SO:0001819	synonymous_variant	9708	exon1			AGTGGCATACAAA	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.834A>T	5.37:g.140773214A>T			145	0	0		100	0.04	4	NM_014004	2	0	0	A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	CCDS47291.1																																																																																					0.423	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376972.1		NM_032088		T	140773214	A	T	140773214	2	4	42	1	0	0	0	0	0	0	0	1	11577	204	8	5		5	PCDHGA8	5	140773214	Silent	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	104561215	140773214	40142046	25	2958											
TNIP1	10318	mdanderson.org	37	chr5	150436453	150436453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcggcacacacactcagCgtggtctccaggcgctgcag	7	7	11	16	3	2	0	1	0	1	0	5	0	3	0	2	3	2	3	2	3	0	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr5:150436453C>T	ENST00000389378.2	-	6	1089	c.501G>A	c.(499-501)acG>acA	p.T167T	TNIP1_ENST00000522226.1_Silent_p.T167T|TNIP1_ENST00000523200.1_Silent_p.T167T|TNIP1_ENST00000524280.1_Silent_p.T167T|TNIP1_ENST00000518977.1_Silent_p.T167T|TNIP1_ENST00000521591.1_Silent_p.T167T|TNIP1_ENST00000520931.1_Silent_p.T114T|TNIP1_ENST00000315050.7_Silent_p.T167T|TNIP1_ENST00000523338.1_Silent_p.T167T	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	167	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACACTCAGCGTGGTCTCCA	0.667																																					p.T167T													.	.			0			c.G501A												35	36	36					5																	150436453		2203	4299	6502	SO:0001819	synonymous_variant	10318	exon6			ACTCAGCGTGGTC	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.501G>A	5.37:g.150436453C>T			48	0	0		24	0.08	2	NM_001252385	127	0	0	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	37	CCDS34280.1																																																																																					0.667	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374914.1		NM_006058		T	150436453	C	T	150436453	2	4	42	1	0	0	0	0	0	0	0	1	16337	755	27	1		1	TNIP1	5	150436453	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	9663239	150436453	30478807	26	2959											
TBP	6908	hgsc.bcm.edu;mdanderson.org	37	chr6	170871016	170871016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacaacaacaGcagcagcagcagcagcagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0	rs542031948		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr6:170871016G>A	ENST00000392092.2	+	3	471	c.192G>A	c.(190-192)caG>caA	p.Q64Q	TBP_ENST00000230354.6_Silent_p.Q64Q|TBP_ENST00000540980.1_Silent_p.Q44Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacaacaacagcagcagcagc	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		14897	0		0	False		,,,				2504	0				p.Q64Q													TBP,NS,carcinoma,0,2	TBP	0	2	0			c.G192A												31	35	33					6																	170871016		2202	4292	6494	SO:0001819	synonymous_variant	6908	exon3			ACAACAGCAGCAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.192G>A	6.37:g.170871016G>A			80	0.0125	1		86	0.07	6	NM_003194	93	0	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																					0.557	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000043271.2		NM_003194		A	170871016	G	A	170871016	2	1	42	1	0	0	0	0	0	0	0	1	15667	962	34	2		2	TBP	6	170871016	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10		170871016	244051	27	2960											
SUMF2	5260	mdanderson.org	37	chr7	56146188	56146188	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgccaatcaccgggccCgggtcaccaccaggtaaggg	8	5	13	15	2	3	0	2	0	1	0	3	0	3	0	5	4	1	2	5	4	2	1	rs149838149	byFrequency	TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr7:56146188C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000395436.2_Missense_Mutation_p.R274W|SUMF2_ENST00000434526.2_Missense_Mutation_p.R289W|SUMF2_ENST00000413756.1_Missense_Mutation_p.R270W|SUMF2_ENST00000437307.2_Missense_Mutation_p.R201W|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000395435.2_Missense_Mutation_p.R205W|SUMF2_ENST00000275607.9_Missense_Mutation_p.R182W	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCACCGGGCCCGGGTCACCAC	0.637													C|||	5	0.000998403	0.0023	0	5008	,	,		18068	0.002		0	False		,,,				2504	0				p.R289W	Melanoma(184;580 2064 5329 24177 35303)												.	.			0			c.C865T							C	TRP/ARG,TRP/ARG,,TRP/ARG,TRP/ARG	4,4402	6.2+/-15.9	0,4,2199	29	27	28		820,613,,544,865	4.2	1	7	dbSNP_134	28	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense,intron,missense,missense	SUMF2	NM_001042469.1,NM_001042470.1,NM_001130069.2,NM_001146333.1,NM_015411.2	101,101,,101,101	0,5,6496	TT,TC,CC		0.0116,0.0908,0.0385	,,,,	274/306,205/237,,182/214,289/321	56146188	5,12997	2203	4298	6501	SO:0001628	intergenic_variant	25870	exon8			CGGGCCCGGGTCA	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56146188C>T			70	0.0142857143	1		86	0.06	5	NM_015411	300	0.03	10	B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	CCDS5525.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	C	24.0	4.487213	0.84854	9.08E-4	1.16E-4	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000395435;ENST00000413952;ENST00000437307;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	5.08	4.21	0.49690	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	.	.	.	.	D	0.98046	0.9356	H	0.97516	4.02	0.47584	D	0.999463	P;D;D;D	0.89917	0.819;1.0;1.0;1.0	B;D;D;D	0.85130	0.226;0.997;0.994;0.997	D	0.95988	0.8983	9	0.87932	D	0	.	9.4876	0.38940	0.0:0.8184:0.0:0.1816	.	186;274;292;270	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7	.;.;.;SUMF2_HUMAN	W	274;289;182;205;292;201;270;287	ENSP00000378824:R274W;ENSP00000400922:R289W;ENSP00000275607:R182W;ENSP00000378823:R205W;ENSP00000414434:R292W;ENSP00000415989:R201W;ENSP00000406445:R270W;ENSP00000410796:R287W	ENSP00000275607:R182W	R	+	1	2	SUMF2	56113682	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.321000	0.43805	1.272000	0.44329	0.655000	0.94253	CGG	0.001		0.637	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251587.1		NM_006213		T	56146188	C	T	56146188	1	4	42	0	1	0	0	0	0	0	0	0	15409	643	23	1		1	SUMF2	7	56146188	IGR	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		56146188	102992475	28	2961											
WBSCR17	64409	mdanderson.org	37	chr7	71177063	71177063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtggagaaccggggcctgGctggcatcgacctcatcctc	7	7	14	13	2	1	1	1	0	0	1	4	3	2	1	4	6	1	2	4	6	1	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr7:71177063G>T	ENST00000333538.5	+	11	2363	c.1729G>T	c.(1729-1731)Gct>Tct	p.A577S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	577	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGGGCCTGGCTGGCATCGA	0.607																																					p.A577S													.	.			0			c.G1729T												80	82	81					7																	71177063		2203	4300	6503	SO:0001583	missense	64409	exon11			GGCCTGGCTGGCA	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1729G>T	7.37:g.71177063G>T	ENSP00000329654:p.Ala577Ser		67	0	0		70	0.06	4	NM_022479	29	0	0	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608203	0.14002	.	.	ENSG00000185274	ENST00000333538	T	0.26957	1.7	5.26	2.26	0.28386	Ricin B-related lectin (1);Ricin B lectin (3);	0.196282	0.45606	D	0.000359	T	0.12646	0.0307	N	0.14661	0.345	0.29360	N	0.864718	B	0.10296	0.003	B	0.16722	0.016	T	0.23368	-1.0190	10	0.09590	T	0.72	.	10.7203	0.46036	0.0:0.1293:0.6326:0.2381	.	577	Q6IS24	GLTL3_HUMAN	S	577	ENSP00000329654:A577S	ENSP00000329654:A577S	A	+	1	0	WBSCR17	70814999	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	2.512000	0.45485	1.172000	0.42781	0.563000	0.77884	GCT			0.607	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252006.1		NM_022479		T	71177063	G	T	71177063	3	4	42	1	0	0	0	0	1	0	0	0	17288	1203	42	2	1771	2	WBSCR17	7	71177063	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	15030875	71177063	87961600	29	2962											
GTF2IRD1	9569	mdanderson.org	37	chr7	74005172	74005172	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgaggccctgggcctgaAccggccggtgctggtccctt	4	8	16	13	2	0	2	0	2	0	0	1	2	1	2	5	6	2	1	5	6	1	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr7:74005172A>G	ENST00000265755.3	+	24	2855	c.2462A>G	c.(2461-2463)aAc>aGc	p.N821S	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.N806S|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.N838S|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.N806S	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	821					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						CTGGGCCTGAACCGGCCGGTG	0.602																																					p.N838S													.	.			0			c.A2513G												35	33	34					7																	74005172		2203	4300	6503	SO:0001583	missense	9569	exon24			GCCTGAACCGGCC	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.2462A>G	7.37:g.74005172A>G	ENSP00000265755:p.Asn821Ser		74	0	0		56	0.05	3	NM_001199207	182	0	0	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773524	0.69992	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.57	5.57	0.84162	.	0.104141	0.64402	D	0.000004	T	0.22742	0.0549	N	0.04203	-0.255	0.48040	D	0.99957	B;P;P;B	0.46784	0.208;0.884;0.542;0.151	B;P;B;B	0.53146	0.112;0.719;0.232;0.026	T	0.10823	-1.0613	10	0.09084	T	0.74	-27.4196	13.4627	0.61235	1.0:0.0:0.0:0.0	.	838;806;821;806	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	S	821;838;806;806	ENSP00000265755:N821S;ENSP00000397566:N838S;ENSP00000408477:N806S;ENSP00000418383:N806S	ENSP00000265755:N821S	N	+	2	0	GTF2IRD1	73643108	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.543000	0.90651	2.127000	0.65507	0.459000	0.35465	AAC			0.602	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252654.2		NM_016328		G	74005172	A	G	74005172	3	3	42	1	0	0	0	0	1	0	0	0	6883	43	2	4	2552	4	GTF2IRD1	7	74005172	Missense_Mutation	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	2828109	74005172	85133491	30	2963											
ADCK2	90956	broad.mit.edu	37	chr7	140373547	140373548	+	In_Frame_Ins	INS	-	-	ACCTCAGGCCCA																															tgcttctgaaagccaccgagINSacctcaggcccaacctacat																										TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr7:140373547_140373548insACCTCAGGCCCA	ENST00000072869.4	+	1	595_596	c.417_418insACCTCAGGCCCA	c.(418-420)acc>ACCTCAGGCCCAacc	p.140_140T>TSGPT	ADCK2_ENST00000476491.1_In_Frame_Ins_p.140_140T>TSGPT	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	140						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)					AAGCCACCGAGACCTCAGGCCC	0.589																																					p.E139delinsETSGP													.	ADCK2	37		0			c.417_418insACCTCAGGCCCA																																									SO:0001652	inframe_insertion	90956	exon1			CACCGAGACCTCA	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.418_429dupACCTCAGGCCCA	7.37:g.140373547_140373548insACCTCAGGCCCA	Exception_encountered		118	0	0		91	0.08	7	NM_052853	73	0	0	Q96CN6|Q9Y6T5	In_Frame_Ins	INS	ENST00000072869.4	37	CCDS5861.1																																																																																					0.589	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348734.1		NM_052853		ACCTCAGGCCCA	140373548	-	ACCTCAGGCCCA	140373547	7	5	42	1	0	1	1	0	0	0	0	0	289	933	33	0	419	0	ADCK2	7	140373547	In_Frame_Ins	INS	-	TCGA-2G-AAGY-01A-11D-A42Y-10	66368375	140373547	18765116	31	2964											
ZNF398	57541	broad.mit.edu	37	chr7	148876752	148876752	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatggaggctgtgggggTgatagtgacccatcaggtca	10	8	15	8	0	2	2	2	2	0	0	2	3	2	3	1	5	0	1	1	5	2	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr7:148876752T>G	ENST00000475153.1	+	6	2055	c.1788T>G	c.(1786-1788)ggT>ggG	p.G596G	ZNF398_ENST00000540950.1_Silent_p.G601G|ZNF398_ENST00000420008.2_Silent_p.G425G|ZNF398_ENST00000491174.1_Silent_p.G425G|ZNF398_ENST00000426851.2_Silent_p.G425G|ZNF398_ENST00000483892.1_Silent_p.G425G|ZNF398_ENST00000335901.4_Silent_p.G425G			Q8TD17	ZN398_HUMAN	zinc finger protein 398	596					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCTGTGGGGGTGATAGTGACC	0.587																																					p.G596G													.	ZNF398	54		0			c.T1788G												60	62	62					7																	148876752		2203	4300	6503	SO:0001819	synonymous_variant	0	exon6			TGGGGGTGATAGT	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1788T>G	7.37:g.148876752T>G			68	0.1323529412	9		59	0.2	12	NM_170686	24	0	0	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	CCDS5894.1																																																																																					0.587	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352722.2				G	148876752	T	G	148876752	2	3	42	1	0	0	0	0	0	0	0	1	17908	1683	59	4		4	ZNF398	7	148876752	Silent	SNP	T	TCGA-2G-AAGY-01A-11D-A42Y-10	8503205	148876752	10261911	32	2965											
WNK2	65268	mdanderson.org	37	chr9	96055381	96055381	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttccattcccagtcgtcCtacatcagcagcgacaatga	10	10	6	15	2	1	1	1	1	0	0	6	2	5	1	4	0	3	1	4	0	2	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr9:96055381C>A	ENST00000297954.4	+	23	5745	c.5745C>A	c.(5743-5745)tcC>tcA	p.S1915S	WNK2_ENST00000427277.2_Silent_p.S1490S|WNK2_ENST00000356055.3_Silent_p.S240S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.S1878S|WNK2_ENST00000349097.3_Silent_p.S1527S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1915					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						CCCAGTCGTCCTACATCAGCA	0.607																																					p.S1878S													.	.			0			c.C5634A												30	32	32					9																	96055381		2203	4299	6502	SO:0001819	synonymous_variant	65268	exon22			GTCGTCCTACATC	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.5745C>A	9.37:g.96055381C>A			57	0	0		47	0.06	3	NM_006648	82	0	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.259|8.259	0.810816|0.810816	0.16537|0.16537	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|.	.|.	.|.	.|.	T|T	0.69151|0.69151	0.3079|0.3079	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68281|0.68281	-0.5450|-0.5450	4|4	.|.	.|.	.|.	.|.	13.8691|13.8691	0.63608|0.63608	0.2249:0.7751:0.0:0.0|0.2249:0.7751:0.0:0.0	.|.	.|.	.|.	.|.	I|H	1482|1874;675;400	.|.	.|.	L|P	+|+	1|2	2|0	WNK2|WNK2	95095202|95095202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	1.127000|1.127000	0.31357|0.31357	2.265000|2.265000	0.75225|0.75225	0.561000|0.561000	0.74099|0.74099	CTA|CCT			0.607	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000317359.1		NM_006648		A	96055381	C	A	96055381	2	1	42	1	0	0	0	0	0	0	0	1	17402	668	24	3		3	WNK2	9	96055381	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		96055381	45158050	33	2966											
DFNB31	25861	bcgsc.ca	37	chr9	117185777	117185777	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttgcggggaaatggtGcctctcacctcagagaggag	9	8	15	9	1	3	1	2	0	2	1	4	4	3	3	2	5	2	0	2	5	1	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr9:117185777G>T	ENST00000362057.3	-	7	1611	c.1443C>A	c.(1441-1443)ggC>ggA	p.G481G	DFNB31_ENST00000265134.6_Silent_p.G98G|DFNB31_ENST00000374059.3_Silent_p.G130G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	481					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						GGGAAATGGTGCCTCTCACCT	0.642																																					p.G481G													.	DFNB31	100		0			c.C1443A												65	63	64					9																	117185777		2203	4300	6503	SO:0001819	synonymous_variant	25861	exon7			AATGGTGCCTCTC	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.1443C>A	9.37:g.117185777G>T			102	0	0		89	0.01	1	NM_001173425	74	0	0	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	CCDS6806.1																																																																																					0.642	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053776.2		NM_015404		T	117185777	G	T	117185777	2	4	42	1	0	0	0	0	0	0	0	1	4460	1306	46	2		2	DFNB31	9	117185777	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	21130396	117185777	24027654	34	2967											
TOR2A	27433	mdanderson.org	37	chr9	130495633	130495633	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctctgagaagtggcccccCcactgtgcccactgcaaagc	9	6	9	17	0	1	1	0	1	1	1	1	2	1	1	5	1	3	1	5	1	2	0	rs564754	byFrequency	TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr9:130495633C>A	ENST00000373284.5	-	3	640				TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000373281.5_Missense_Mutation_p.W208C	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A						chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						AGTGGCCCCCCCACTGTGCCC	0.602																																					p.W208C													.	.			0			c.G624T												50	49	49					9																	130495633		2203	4300	6503	SO:0001627	intron_variant	27433	exon3			GCCCCCCCACTGT	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.593+30G>T	9.37:g.130495633C>A			118	0	0		97	0.03	3	NM_130459	19	0	0	A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Missense_Mutation	SNP	ENST00000373284.5	37	CCDS43879.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495875	0.26774	.	.	ENSG00000160404	ENST00000373281	T	0.69040	-0.37	5.39	-1.4	0.08968	.	.	.	.	.	T	0.49029	0.1533	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.34153	-0.9840	7	0.38643	T	0.18	.	5.8881	0.18892	0.137:0.2686:0.5145:0.0798	.	208	Q5JU69-2	.	C	208	ENSP00000362378:W208C	ENSP00000362378:W208C	W	-	3	0	TOR2A	129535454	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.060000	0.03475	-0.643000	0.05473	-0.311000	0.09066	TGG			0.602	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054205.1		NM_130459		A	130495633	C	A	130495633	1	1	42	0	1	0	0	0	0	0	0	0	16399	624	22	3		3	TOR2A	9	130495633	Intron	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	13309856	130495633	10717798	35	2968											
SEC16A	9919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr9	139370740	139370740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacccctgtgctcgctGtgtcaccccacacatcacca	7	7	7	20	2	2	0	2	0	0	0	3	0	2	0	6	1	1	3	6	1	0	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr9:139370740G>T	ENST00000371706.3	-	1	827	c.794C>A	c.(793-795)aCa>aAa	p.T265K	SEC16A_ENST00000313050.7_Missense_Mutation_p.T443K|SEC16A_ENST00000431893.2_Missense_Mutation_p.T265K|SEC16A_ENST00000290037.6_Missense_Mutation_p.T265K			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	265					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)		TGTGCTCGCTGTGTCACCCCA	0.607																																					p.T443K													.	.			0			c.C1328A												49	58	55					9																	139370740		2105	4244	6349	SO:0001583	missense	9919	exon3			CTCGCTGTGTCAC	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	ENST00000371706.3:c.794C>A	9.37:g.139370740G>T	ENSP00000360771:p.Thr265Lys		137	0	0		128	0.58	74	NM_014866	95	0.59	56	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	7.188	0.590941	0.13812	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.22539	1.98;1.95;1.95;1.95	5.46	-1.44	0.08856	.	1.360100	0.04382	N	0.360888	T	0.14056	0.0340	L	0.34521	1.04	0.09310	N	0.999997	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.27502	-1.0072	10	0.29301	T	0.29	0.7021	2.8997	0.05701	0.1658:0.4283:0.2272:0.1787	.	443;265;265;70	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	K	443;265;265;265;70	ENSP00000325827:T443K;ENSP00000360771:T265K;ENSP00000290037:T265K;ENSP00000387583:T265K	ENSP00000290037:T265K	T	-	2	0	SEC16A	138490561	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.873000	0.28052	0.053000	0.16036	-0.136000	0.14681	ACA			0.607	SEC16A-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000055077.1		XM_088459		T	139370740	G	T	139370740	3	4	42	1	0	0	0	0	1	0	0	0	14009	1377	48	3	5865	3	SEC16A	9	139370740	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	8875107	139370740	1842691	36	2969											
MAMDC4	158056	mdanderson.org	37	chr9	139752857	139752857	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatgtcctgcaggttccTgtgattttgagtctggcctg	5	14	11	11	0	1	2	0	2	1	0	3	2	3	2	4	2	1	2	4	2	0	3	rs374940023		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr9:139752857T>G	ENST00000317446.2	+	22	2730	c.2680T>G	c.(2680-2682)Tgt>Ggt	p.C894G	MAMDC4_ENST00000445819.1_Missense_Mutation_p.C973G|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)		TGCAGGTTCCTGTGATTTTGA	0.672																																					p.C894G													.	.			0			c.T2680G												56	64	62					9																	139752857		2200	4300	6500	SO:0001583	missense	158056	exon22			GGTTCCTGTGATT	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.2680T>G	9.37:g.139752857T>G	ENSP00000319388:p.Cys894Gly		16	0	0		17	0.12	2	NM_206920	28	0	0		Missense_Mutation	SNP	ENST00000317446.2	37	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.11|17.11	3.304722|3.304722	0.60305|0.60305	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.12255|.	2.7;2.7|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Concanavalin A-like lectin/glucanase (1);MAM domain (3);|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|D	0.86900|0.86900	0.6044|0.6044	H|H	0.96301|0.96301	3.8|3.8	0.41857|0.41857	D|D	0.990204|0.990204	B;D|.	0.69078|.	0.181;0.997|.	B;D|.	0.71184|.	0.414;0.972|.	D|D	0.91015|0.91015	0.4853|0.4853	10|5	0.87932|.	D|.	0|.	-15.5217|-15.5217	13.5881|13.5881	0.61944|0.61944	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	973;894|.	Q6UXC1;Q6UXC1-2|.	AEGP_HUMAN;.|.	G|R	894;973|958	ENSP00000319388:C894G;ENSP00000411339:C973G|.	ENSP00000319388:C894G|.	C|L	+|+	1|2	0|0	MAMDC4|MAMDC4	138872678|138872678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.630000|0.630000	0.37929|0.37929	3.781000|3.781000	0.55394|0.55394	1.904000|1.904000	0.55121|0.55121	0.454000|0.454000	0.30748|0.30748	TGT|CTG			0.672	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000254642.3		NM_206920		G	139752857	T	G	139752857	3	3	42	1	0	0	0	0	1	0	0	0	9220	1580	55	4	2766	4	MAMDC4	9	139752857	Missense_Mutation	SNP	T	TCGA-2G-AAGY-01A-11D-A42Y-10	382117	139752857	1460574	37	2970											
DIP2C	22982	bcgsc.ca	37	chr10	415572	415572	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggttactgtcatccgtggGcctgtaatgacagtttttaa	8	15	10	8	1	1	1	1	1	0	0	2	1	2	1	2	2	1	3	2	2	3	5			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr10:415572G>T	ENST00000280886.6	-	18	2080	c.1993C>A	c.(1993-1995)Ccc>Acc	p.P665T	DIP2C_ENST00000381496.3_Splice_Site_p.P558T|DIP2C_ENST00000540204.1_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	665						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)		TCATCCGTGGGCCTGTAATGA	0.552																																					p.P665T													.	DIP2C	195		0			c.C1993A												68	74	72					10																	415572		2203	4300	6503	SO:0001630	splice_region_variant	22982	exon18			CCGTGGGCCTGTA	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.1992-1C>A	10.37:g.415572G>T			65	0	0		79	0.01	1	NM_014974	38	0	0	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550021	0.65311	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.11169	2.8;2.8	5.09	5.09	0.68999	AMP-dependent synthetase/ligase (1);	0.173903	0.51477	D	0.000090	T	0.36054	0.0953	M	0.86651	2.83	0.80722	D	1	P	0.49559	0.925	P	0.59825	0.864	T	0.15009	-1.0452	10	0.32370	T	0.25	-10.9011	18.8772	0.92343	0.0:0.0:1.0:0.0	.	665	Q9Y2E4	DIP2C_HUMAN	T	665;558	ENSP00000280886:P665T;ENSP00000370907:P558T	ENSP00000280886:P665T	P	-	1	0	DIP2C	405572	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	9.784000	0.99039	2.526000	0.85167	0.561000	0.74099	CCC			0.552	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046389.1		NM_014974	Missense_Mutation	T	415572	G	T	415572	5	4	42	1	0	0	0	0	0	0	1	0	4534	1217	42	2	2757	2	DIP2C	10	415572	Splice_Site	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10		415572	135119175	38	2971											
C10orf54	64115	mdanderson.org	37	chr10	73511467	73511467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggggcctggaggagacaGgggggtgctgggctccgaaa	7	5	20	9	2	0	1	0	0	0	1	2	4	2	2	3	8	1	2	3	8	1	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr10:73511467G>A	ENST00000394957.3	-	6	914	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	286					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAGGAGACAGGGGGGTGCTG	0.617																																					p.L286L													.	.			0			c.C856T												43	47	45					10																	73511467		2203	4300	6503	SO:0001819	synonymous_variant	64115	exon6			GAGACAGGGGGGT	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.856C>T	10.37:g.73511467G>A			50	0	0		43	0.07	3	NM_022153	152	0	0	A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Silent	SNP	ENST00000394957.3	37	CCDS31218.1																																																																																					0.617	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048548.1		NM_022153		A	73511467	G	A	73511467	2	1	42	1	0	0	0	0	0	0	0	1	1609	991	35	3		3	C10orf54	10	73511467	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	73095895	73511467	62023280	39	2972											
DUSP13	51207	mdanderson.org	37	chr10	76863743	76863743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagggccgaccccacgctggGcttccaccatcttctgtgtg	5	10	11	15	2	2	0	0	0	2	0	3	1	3	0	5	2	0	2	5	2	1	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr10:76863743G>T	ENST00000491677.2	-	4	742	c.200C>A	c.(199-201)gCc>gAc	p.A67D	DUSP13_ENST00000607131.1_Missense_Mutation_p.A31D|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Intron	NM_001007271.1	NP_001007272.1	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	170					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCACGCTGGGCTTCCACCAT	0.647																																					p.A31D	NSCLC(174;1655 2059 12324 40663 42963)												DUSP13_ENST00000394707,NS,carcinoma,-1,1	DUSP13_ENST00000394707	-1	1	0			c.C92A												34	35	35					10																	76863743		2196	4297	6493	SO:0001583	missense	51207	exon2			CGCTGGGCTTCCA	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000491677.2:c.200C>A	10.37:g.76863743G>T	ENSP00000436312:p.Ala67Asp		69	0	0		41	0.1	4	NM_001007273	2	0	0	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000491677.2	37		.	.	.	.	.	.	.	.	.	.	G	12.19	1.863106	0.32884	.	.	ENSG00000079393	ENST00000491677;ENST00000372698	T	0.07327	3.2	4.41	-1.87	0.07737	.	2.918520	0.01556	N	0.019889	T	0.06096	0.0158	N	0.19112	0.55	0.20703	N	0.999867	B	0.06786	0.001	B	0.06405	0.002	T	0.39272	-0.9622	10	0.54805	T	0.06	-0.9659	4.1423	0.10200	0.4839:0.0:0.3495:0.1666	.	67	F2Z2C4	.	D	67;31	ENSP00000436312:A67D	ENSP00000361783:A31D	A	-	2	0	DUSP13	76533749	0.002000	0.14202	0.006000	0.13384	0.016000	0.09150	-0.256000	0.08757	-0.239000	0.09710	-0.140000	0.14226	GCC			0.647	DUSP13-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding						T	76863743	G	T	76863743	3	4	42	1	0	0	0	0	1	0	0	0	4818	1203	42	2	803	2	DUSP13	10	76863743	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	3352276	76863743	58671004	40	2973											
DLG5	9231	mdanderson.org	37	chr10	79581552	79581552	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtccccagaggcatctGagcggaaggagctcaggcta	10	5	14	12	2	2	2	1	1	1	1	3	4	3	4	2	5	2	3	2	5	2	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr10:79581552G>T	ENST00000372391.2	-	15	2695	c.2690C>A	c.(2689-2691)tCa>tAa	p.S897*	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'Flank	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	897					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)			AGAGGCATCTGAGCGGAAGGA	0.667																																					p.S897X													.	.			0			c.C2690A												17	17	17					10																	79581552		2203	4300	6503	SO:0001587	stop_gained	9231	exon15			GCATCTGAGCGGA	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.2690C>A	10.37:g.79581552G>T	ENSP00000361467:p.Ser897*		32	0	0		17	0.12	2	NM_004747	106	0	0	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Nonsense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	40	8.120866	0.98665	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	.	.	.	5.27	5.27	0.74061	.	0.254904	0.20836	N	0.084789	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	14.8169	0.70041	0.0:0.1438:0.8562:0.0	.	.	.	.	X	897;446	.	ENSP00000361467:S897X	S	-	2	0	DLG5	79251558	1.000000	0.71417	0.875000	0.34327	0.966000	0.64601	5.552000	0.67281	2.640000	0.89533	0.543000	0.68304	TCA			0.667	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048900.2				T	79581552	G	T	79581552	4	4	42	1	0	0	0	0	0	1	0	0	4563	1294	45	3	3141	3	DLG5	10	79581552	Nonsense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	2717809	79581552	55953195	41	2974											
IDE	3416	mdanderson.org	37	chr10	94214294	94214294	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgttctgaatcacttcAggctgcaaagaaaaaagttt	14	12	8	7	0	4	2	3	1	1	1	4	2	4	2	0	1	1	4	0	1	5	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr10:94214294A>G	ENST00000265986.6	-	25	3023	c.2967T>C	c.(2965-2967)ccT>ccC	p.P989P	IDE_ENST00000371581.5_Silent_p.P434P|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	989					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)"	GAATCACTTCAGGCTGCAAAG	0.408																																					p.P989P													.	.			0			c.T2967C												99	98	99					10																	94214294		2203	4300	6503	SO:0001819	synonymous_variant	3416	exon25			CACTTCAGGCTGC	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.2967T>C	10.37:g.94214294A>G			82	0	0		46	0.07	3	NM_004969	51	0	0	B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	CCDS7421.1																																																																																					0.408	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049393.1		NM_004969		G	94214294	A	G	94214294	2	3	42	1	0	0	0	0	0	0	0	1	7508	175	7	4		4	IDE	10	94214294	Silent	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	14632742	94214294	41320453	42	2975											
VWA2	340706	bcgsc.ca	37	chr10	116044682	116044682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttccagaaggactggacgGctaccagtgcctctgcccgc	7	8	12	14	2	1	1	0	0	1	1	2	3	2	3	4	3	3	2	4	3	2	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr10:116044682G>A	ENST00000392982.3	+	10	1200	c.950G>A	c.(949-951)gGc>gAc	p.G317D	VWA2_ENST00000603594.1_Missense_Mutation_p.G317D			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	317	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GGACTGGACGGCTACCAGTGC	0.602																																					p.G317D													.	VWA2	64		0			c.G950A												82	64	70					10																	116044682		2203	4300	6503	SO:0001583	missense	340706	exon10			TGGACGGCTACCA	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.950G>A	10.37:g.116044682G>A	ENSP00000376708:p.Gly317Asp		59	0	0		32	0	0	NM_001272046	3	0	0	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	G	0.333	-0.954988	0.02285	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.92965	-3.14	5.49	0.402	0.16344	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.865563	0.10687	N	0.645644	D	0.84955	0.5587	L	0.41415	1.275	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.006	T	0.68307	-0.5443	10	0.17832	T	0.49	.	5.4069	0.16326	0.3714:0.1514:0.4772:0.0	.	317;317	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	D	317	ENSP00000376708:G317D	ENSP00000298715:G317D	G	+	2	0	VWA2	116034672	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.118000	0.15605	0.242000	0.21303	0.655000	0.94253	GGC			0.602	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000050456.3		NM_198496		A	116044682	G	A	116044682	3	1	42	1	0	0	0	0	1	0	0	0	17263	1203	42	2	984	2	VWA2	10	116044682	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	21830388	116044682	19490065	43	2976											
C10orf88	80007	mdanderson.org	37	chr10	124713659	124713659	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaggccagcgtggggcgGcgggtgaggcccccgtcctc	5	4	19	13	4	0	2	0	1	0	1	2	3	1	2	4	6	1	0	4	6	1	0	rs565953327		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr10:124713659G>T	ENST00000481909.1	-	1	260	c.36C>A	c.(34-36)cgC>cgA	p.R12R	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	12										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GCGTGGGGCGGCGGGTGAGGC	0.701																																					p.R12R													C10orf88,colon,carcinoma,-1,1	C10orf88	-1	1	0			c.C36A												10	14	13					10																	124713659		2171	4254	6425	SO:0001819	synonymous_variant	80007	exon1			GGGGCGGCGGGTG	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.36C>A	10.37:g.124713659G>T			21	0	0		29	0.1	3	NM_024942	23	0	0	Q0P6C6|Q8N597	Silent	SNP	ENST00000481909.1	37	CCDS7632.1																																																																																					0.701	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050807.1		NM_024942		T	124713659	G	T	124713659	2	4	42	1	0	0	0	0	0	0	0	1	1624	1190	42	2		2	C10orf88	10	124713659	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	8668977	124713659	10821088	44	2977											
INSC	387755	mdanderson.org	37	chr11	15212344	15212344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagggggctcccttgtGccgcatcatagccaaggtga	8	7	14	12	1	1	1	1	1	0	0	2	2	2	2	4	4	2	2	4	4	2	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr11:15212344G>T	ENST00000379554.3	+	6	864	c.818G>T	c.(817-819)tGc>tTc	p.C273F	INSC_ENST00000528567.1_Missense_Mutation_p.C226F|INSC_ENST00000530161.1_Missense_Mutation_p.C226F|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.C226F|INSC_ENST00000379556.3_Missense_Mutation_p.C226F|INSC_ENST00000525218.1_Missense_Mutation_p.C226F	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	273					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCTCCCTTGTGCCGCATCATA	0.527																																					p.C273F													.	.			0			c.G818T												97	100	99					11																	15212344		1925	4141	6066	SO:0001583	missense	387755	exon6			CCTTGTGCCGCAT	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.818G>T	11.37:g.15212344G>T	ENSP00000368872:p.Cys273Phe		99	0	0		44	0.07	3	NM_001031853	9	0	0	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825651	0.71143	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.48522	0.81;0.81;0.82;0.81;0.81;0.82	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.994;0.995;0.995	D;P;P;P	0.66351	0.943;0.837;0.885;0.885	T	0.62426	-0.6857	10	0.52906	T	0.07	-17.5924	17.7766	0.88510	0.0:0.0:1.0:0.0	.	261;226;226;273	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	F	273;226;226;261;226;226;226	ENSP00000368872:C273F;ENSP00000368874:C226F;ENSP00000389161:C226F;ENSP00000435022:C226F;ENSP00000436194:C226F;ENSP00000436113:C226F	ENSP00000368872:C273F	C	+	2	0	INSC	15168920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.302000	0.72788	2.937000	0.99478	0.650000	0.86243	TGC			0.527	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386590.1		NM_001031853		T	15212344	G	T	15212344	3	4	42	1	0	0	0	0	1	0	0	0	7779	1319	46	2	840	2	INSC	11	15212344	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10		15212344	119794172	45	2978											
MACROD1	28992	mdanderson.org	37	chr11	63918712	63918712	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcaggccagccactcaccGgcgttgacgatggcgtccac	7	7	12	15	4	2	1	2	1	0	0	3	2	3	1	4	3	1	2	4	3	0	2	rs374513283		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr11:63918712G>A	ENST00000255681.6	-	3	582	c.516C>T	c.(514-516)gcC>gcT	p.A172A	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	172	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.|Substrate binding. {ECO:0000250}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCCACTCACCGGCGTTGACGA	0.607																																					p.A172A													.	.			0			c.C516T							G		0,4402		0,0,2201	129	105	113		516	-7.7	0.5	11		113	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous-near-splice	MACROD1	NM_014067.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		172/326	63918712	1,12995	2201	4297	6498	SO:0001630	splice_region_variant	28992	exon3			CTCACCGGCGTTG	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+1C>T	11.37:g.63918712G>A			36	0	0		24	0.08	2	NM_014067	24	0	0	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																					0.607	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396570.1		NM_014067	Silent	A	63918712	G	A	63918712	5	1	42	1	0	0	0	0	0	0	1	0	9161	1130	39	1	493	1	MACROD1	11	63918712	Splice_Site	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	48706368	63918712	71087804	46	2979											
KRTAP5-8	57830	bcgsc.ca	37	chr11	71249545	71249545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttcccagtccagctgCtgtaagccctgctgctgctc	4	12	10	15	0	0	0	0	0	0	0	3	0	2	0	3	0	7	8	3	0	1	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																					p.C148C													KRTAP5-8,NS,carcinoma,0,1	KRTAP5-8	28	1	0			c.C444T												173	178	177					11																	71249545		2200	4294	6494	SO:0001819	synonymous_variant	57830	exon1			CAGCTGCTGTAAG	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.444C>T	11.37:g.71249545C>T			54	0	0		29	0.03	1	NM_021046	0		0	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																					0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127954.1		NM_021046		T	71249545	C	T	71249545	2	4	42	1	0	0	0	0	0	0	0	1	8582	805	28	2		2	KRTAP5-8	11	71249545	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	7330833	71249545	63756971	47	2980											
SLC38A1	81539	bcgsc.ca	37	chr12	46622952	46622952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaaaaagtaggattcCagtgtttgccagggcaaagg	14	8	12	7	0	1	1	1	0	0	1	2	2	2	2	2	3	1	3	2	3	4	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr12:46622952C>T	ENST00000398637.5	-	5	992	c.298G>A	c.(298-300)Gga>Aga	p.G100R	SLC38A1_ENST00000549049.1_Missense_Mutation_p.G100R|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.G100R|SLC38A1_ENST00000546893.1_Missense_Mutation_p.G100R|SLC38A1_ENST00000552197.1_Missense_Mutation_p.G100R	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	100					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGTAGGATTCCAGTGTTTGCC	0.403																																					p.G100R													.	SLC38A1	58		0			c.G298A												56	51	52					12																	46622952		1872	4109	5981	SO:0001583	missense	81539	exon5			GGATTCCAGTGTT	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.298G>A	12.37:g.46622952C>T	ENSP00000381634:p.Gly100Arg		144	0	0		123	0	0	NM_030674	44	0	0	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310675	0.95629	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.13	5.13	0.70059	.	0.187376	0.39475	N	0.001353	D	0.82554	0.5062	M	0.86864	2.845	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	0.85524	0.1205	10	0.87932	D	0	-12.3139	18.7708	0.91892	0.0:1.0:0.0:0.0	.	100;100;100	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	R	100	ENSP00000449607:G100R;ENSP00000398142:G100R;ENSP00000381634:G100R;ENSP00000447853:G100R;ENSP00000449756:G100R	ENSP00000381634:G100R	G	-	1	0	SLC38A1	44909219	1.000000	0.71417	0.933000	0.37362	0.997000	0.91878	7.609000	0.82925	2.669000	0.90835	0.591000	0.81541	GGA			0.403	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404218.2				T	46622952	C	T	46622952	3	4	42	1	0	0	0	0	1	0	0	0	14624	603	21	3	1217	3	SLC38A1	12	46622952	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		46622952	87228943	48	2981											
RAPGEF3	10411	mdanderson.org	37	chr12	48141596	48141596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctcttgttgcagaCgtaggtgctgcgctcctgct	3	13	12	13	2	1	1	0	0	1	1	2	1	2	1	2	1	6	7	2	1	1	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr12:48141596C>T	ENST00000449771.2	-	14	1460	c.1372G>A	c.(1372-1374)Gtc>Atc	p.V458I	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.V416I|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.V416I|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.V458I|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.V416I|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.V416I|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.V458I			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	458	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TTGTTGCAGACGTAGGTGCTG	0.627																																					p.V458I													RAPGEF3,colon,carcinoma,0,1	RAPGEF3	0	1	0			c.G1372A												42	42	42					12																	48141596		2203	4300	6503	SO:0001583	missense	10411	exon14			TGCAGACGTAGGT	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1372G>A	12.37:g.48141596C>T	ENSP00000395708:p.Val458Ile		30	0	0		22	0.14	3	NM_001098531	27	0	0	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	7.994	0.753862	0.15778	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.99	-1.69	0.08186	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.780519	0.12311	N	0.480240	T	0.18509	0.0444	N	0.02916	-0.46	0.19300	N	0.999978	B	0.06786	0.001	B	0.08055	0.003	T	0.27872	-1.0061	10	0.15066	T	0.55	.	8.3064	0.32045	0.1391:0.5728:0.0:0.2881	.	458	O95398	RPGF3_HUMAN	I	416;458;105;416;416;416;458;470;416;458	ENSP00000384521:V416I;ENSP00000395708:V458I;ENSP00000448619:V416I;ENSP00000171000:V416I;ENSP00000373864:V458I;ENSP00000448480:V416I;ENSP00000378764:V458I	ENSP00000171000:V416I	V	-	1	0	RAPGEF3	46427863	0.001000	0.12720	0.965000	0.40720	0.955000	0.61496	-1.910000	0.01584	-0.347000	0.08299	-1.004000	0.02495	GTC			0.627	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257848.1		NM_006105		T	48141596	C	T	48141596	3	4	42	1	0	0	0	0	1	0	0	0	13068	536	19	1	1459	1	RAPGEF3	12	48141596	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	1518644	48141596	85710299	49	2982											
HNRNPA1	3178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	54677642	54677642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaatgattttgggaattaCaacaatcagtcttcaaattt	15	15	5	6	0	3	1	2	1	1	0	3	2	3	2	0	1	3	0	0	1	7	6			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr12:54677642C>T	ENST00000340913.6	+	9	1007	c.954C>T	c.(952-954)taC>taT	p.Y318Y	HNRNPA1_ENST00000547276.1_Silent_p.Y213Y|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Silent_p.Y253Y|HNRNPA1_ENST00000546500.1_Silent_p.Y266Y	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	318	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTGGGAATTACAACAATCAGT	0.448																																					p.Y318Y	Colon(83;502 1289 8436 16406 24870)												.	.			0			c.C954T												124	129	127					12																	54677642		2018	4181	6199	SO:0001819	synonymous_variant	3178	exon9			GAATTACAACAAT	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.954C>T	12.37:g.54677642C>T			56	0	0		68	0.18	12	NM_031157	6650	0.24	1575	A8K4Z8|Q3MIB7|Q6PJZ7	Silent	SNP	ENST00000340913.6	37	CCDS44909.1																																																																																					0.448	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000405480.1		NM_031157		T	54677642	C	T	54677642	2	4	42	1	0	0	0	0	0	0	0	1	7272	489	17	3		3	HNRNPA1	12	54677642	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	6536046	54677642	79174253	50	2983											
RHOF	54509	broad.mit.edu	37	chr12	122231059	122231059	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgcaggcgcactcaccGgccgtgtcgtagaggttcag	6	6	16	13	6	2	1	2	0	0	1	3	1	2	1	2	4	0	4	2	4	1	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr12:122231059G>T	ENST00000267205.2	-	2	853	c.225C>A	c.(223-225)gcC>gcA	p.A75A	RHOF_ENST00000545544.1_5'UTR|RHOF_ENST00000537265.1_5'UTR|AC084018.1_ENST00000539299.1_lincRNA|RHOF_ENST00000537171.1_Splice_Site_p.A75A	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	75					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CGCACTCACCGGCCGTGTCGT	0.716																																					p.A75A													.	RHOF	6		0			c.C225A												29	28	28					12																	122231059		1825	3398	5223	SO:0001630	splice_region_variant	54509	exon2			CTCACCGGCCGTG	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"ras homolog gene family, member F (in filopodia)"	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.226+1C>A	12.37:g.122231059G>T			83	0	0		68	0.04	3	NM_019034	35	0	0	Q8WVB1|Q9NXH6	Splice_Site	SNP	ENST00000267205.2	37	CCDS9222.1																																																																																					0.716	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402165.1			Silent	T	122231059	G	T	122231059	5	4	42	1	0	0	0	0	0	0	1	0	13361	1130	39	1	426	1	RHOF	12	122231059	Splice_Site	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	67553417	122231059	11620836	51	2984											
MAB21L1	4081	ucsc.edu;mdanderson.org	37	chr13	36049616	36049616	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgccgagctctgcttGccggccaaggagtggcactc	5	8	12	16	3	2	0	0	0	2	0	4	2	2	1	4	3	3	3	4	3	1	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr13:36049616G>T	ENST00000379919.4	-	1	1216	c.660C>A	c.(658-660)ggC>ggA	p.G220G	NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	220					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)		AGCTCTGCTTGCCGGCCAAGG	0.642																																					p.G220G													.	MAB21L1	52		0			c.C660A												49	56	54					13																	36049616		2202	4299	6501	SO:0001819	synonymous_variant	4081	exon1			CTGCTTGCCGGCC	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.660C>A	13.37:g.36049616G>T			50	0	0		41	0.1	4	NM_005584	139	0	0	Q6I9T5	Silent	SNP	ENST00000379919.4	37	CCDS9353.1																																																																																					0.642	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044459.3		NM_005584		T	36049616	G	T	36049616	2	4	42	1	0	0	0	0	0	0	0	1	9157	1306	46	2		2	MAB21L1	13	36049616	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10		36049616	79120262	52	2985											
SLC8A3	6547	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr14	70633871	70633871	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatggtctttgacatgtcTccccctttcctcaccactgt	6	15	5	15	0	3	1	1	1	2	0	5	1	4	1	4	1	1	0	4	1	1	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr14:70633871T>C	ENST00000381269.2	-	2	2022	c.1269A>G	c.(1267-1269)ggA>ggG	p.G423G	SLC8A3_ENST00000528359.1_Silent_p.G423G|SLC8A3_ENST00000534137.1_Silent_p.G423G|SLC8A3_ENST00000357887.3_Silent_p.G423G|SLC8A3_ENST00000356921.2_Silent_p.G423G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	423	Calx-beta 1.				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)		TTGACATGTCTCCCCCTTTCC	0.507																																					p.G423G													.	.			0			c.A1269G												128	119	122					14																	70633871		2203	4300	6503	SO:0001819	synonymous_variant	6547	exon2			CATGTCTCCCCCT	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.1269A>G	14.37:g.70633871T>C			103	0	0		78	0.06	5	NM_183002	16	0	0	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																					0.507	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390736.1				C	70633871	T	C	70633871	2	2	42	1	0	0	0	0	0	0	0	1	14731	1538	54	4		4	SLC8A3	14	70633871	Silent	SNP	T	TCGA-2G-AAGY-01A-11D-A42Y-10		70633871	36715669	53	2986											
PTPN21	11099	mdanderson.org	37	chr14	88945534	88945534	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggcgagcaggacgcgAgggcagccaggtgggtcctg	6	3	20	12	4	0	0	0	0	0	0	1	3	1	1	3	6	2	2	3	6	0	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr14:88945534A>G	ENST00000556564.1	-	13	2525	c.2241T>C	c.(2239-2241)ccT>ccC	p.P747P	PTPN21_ENST00000328736.3_Silent_p.P747P	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	747					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						GCAGGACGCGAGGGCAGCCAG	0.736																																					p.P747P													.	.			0			c.T2241C												20	19	20					14																	88945534		2196	4291	6487	SO:0001819	synonymous_variant	11099	exon13			GACGCGAGGGCAG	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.2241T>C	14.37:g.88945534A>G			47	0.0212765957	1		43	0.07	3	NM_007039	9	0	0		Silent	SNP	ENST00000556564.1	37	CCDS9884.1																																																																																					0.736	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000410303.1				G	88945534	A	G	88945534	2	3	42	1	0	0	0	0	0	0	0	1	12809	291	11	4		4	PTPN21	14	88945534	Silent	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	18311663	88945534	18404006	54	2987											
FAM181A	90050	broad.mit.edu	37	chr14	94394839	94394839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctgagccctacctgaaaAgggggtctgaggaccggccc	8	6	14	13	1	1	3	0	3	1	0	1	4	1	4	4	4	3	1	4	4	3	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr14:94394839A>G	ENST00000267594.5	+	3	701	c.394A>G	c.(394-396)Agg>Ggg	p.R132G	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000556222.1_Missense_Mutation_p.R70G|FAM181A_ENST00000557000.2_Missense_Mutation_p.R70G|FAM181A_ENST00000557719.1_Missense_Mutation_p.R70G	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	132										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTACCTGAAAAGGGGGTCTGA	0.652																																					p.R132G													.	FAM181A	42		0			c.A394G												19	23	22					14																	94394839		2202	4297	6499	SO:0001583	missense	90050	exon3			CTGAAAAGGGGGT	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.394A>G	14.37:g.94394839A>G	ENSP00000267594:p.Arg132Gly		59	0	0		57	0.07	4	NM_138344	10	0	0	B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882274	0.33255	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.74	3.57	0.40892	.	0.160951	0.29002	N	0.013450	T	0.25827	0.0629	L	0.53249	1.67	0.20563	N	0.999881	P	0.36535	0.557	B	0.33620	0.167	T	0.16188	-1.0411	10	0.54805	T	0.06	-13.0992	7.5926	0.28029	0.5154:0.3597:0.0:0.125	.	132	Q8N9Y4	F181A_HUMAN	G	70;132;70;70;121	ENSP00000451802:R70G;ENSP00000267594:R132G;ENSP00000451678:R70G;ENSP00000452393:R70G	ENSP00000267594:R132G	R	+	1	2	FAM181A	93464592	0.001000	0.12720	0.985000	0.45067	0.510000	0.34073	0.197000	0.17197	0.659000	0.30945	-0.466000	0.05196	AGG			0.652	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000412840.1		NM_138344		G	94394839	A	G	94394839	3	3	42	1	0	0	0	0	1	0	0	0	5518	63	3	4	400	4	FAM181A	14	94394839	Missense_Mutation	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	5449305	94394839	12954701	55	2988											
SPINT1	6692	broad.mit.edu	37	chr15	41149071	41149071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagagaaaggacttccaCggacaccaccaccacccacc	15	2	6	18	1	0	1	0	0	0	1	1	4	1	3	7	2	1	0	7	2	2	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr15:41149071C>A	ENST00000344051.4	+	11	1722	c.1488C>A	c.(1486-1488)caC>caA	p.H496Q	SPINT1_ENST00000431806.1_Missense_Mutation_p.H480Q|SPINT1_ENST00000562057.1_Missense_Mutation_p.H480Q			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	496					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGGACTTCCACGGACACCACC	0.582																																					p.H496Q													.	SPINT1	28		0			c.C1488A												232	222	226					15																	41149071		2203	4300	6503	SO:0001583	missense	6692	exon11			CTTCCACGGACAC		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1488C>A	15.37:g.41149071C>A	ENSP00000342098:p.His496Gln		116	0	0		120	0.03	3	NM_181642	213	0	0	Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	1.397	-0.579120	0.03854	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95137	-3.62;-3.62	5.37	3.23	0.37069	.	1.150880	0.05926	N	0.634383	D	0.92084	0.7491	L	0.57536	1.79	0.09310	N	1	B;B;B	0.16396	0.015;0.017;0.001	B;B;B	0.20184	0.007;0.028;0.0	T	0.79614	-0.1730	10	0.21540	T	0.41	-6.1871	6.9755	0.24672	0.3229:0.5881:0.0:0.089	.	480;480;496	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	Q	496;463;480	ENSP00000342098:H496Q;ENSP00000409935:H480Q	ENSP00000342098:H496Q	H	+	3	2	SPINT1	38936363	0.017000	0.18338	0.002000	0.10522	0.003000	0.03518	0.098000	0.15189	1.226000	0.43582	0.462000	0.41574	CAC			0.582	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252359.2		NM_003710		A	41149071	C	A	41149071	3	1	42	1	0	0	0	0	1	0	0	0	15091	535	19	1	1526	1	SPINT1	15	41149071	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		41149071	61382321	56	2989											
SPTBN5	51332	mdanderson.org	37	chr15	42175409	42175409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgctgcccacaggcGgtggacctggccggctcctg	4	6	15	16	2	0	0	0	0	0	0	1	1	1	1	5	5	3	3	5	5	0	0	rs542166326	byFrequency	TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr15:42175409G>A	ENST00000320955.6	-	9	1904	c.1677C>T	c.(1675-1677)acC>acT	p.T559T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	559					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)		GCCCACAGGCGGTGGACCTGG	0.642													G|||	2	0.000399361	0	0.0014	5008	,	,		19899	0		0.001	False		,,,				2504	0				p.T524T													.	.			0			c.C1572T												14	16	16					15																	42175409		2024	4167	6191	SO:0001819	synonymous_variant	51332	exon9			ACAGGCGGTGGAC	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.1677C>T	15.37:g.42175409G>A			71	0	0		50	0.06	3	NM_016642	1	0	0		Silent	SNP	ENST00000320955.6	37																																																																																						0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000420237.1		NM_016642		A	42175409	G	A	42175409	2	1	42	1	0	0	0	0	0	0	0	1	15145	1103	39	1		1	SPTBN5	15	42175409	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	1026338	42175409	60355983	57	2990											
ODF3L1	161753	mdanderson.org	37	chr15	76019748	76019748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcctaccctctggaccTcacgccacggcctggccccg	4	7	9	21	4	2	0	1	0	1	0	3	1	2	1	7	3	1	0	7	3	1	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr15:76019748T>C	ENST00000332145.2	+	4	915	c.692T>C	c.(691-693)cTc>cCc	p.L231P	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	231										kidney(1)|lung(1)	2						CCTCTGGACCTCACGCCACGG	0.632																																					p.L231P													.	.			0			c.T692C												93	80	84					15																	76019748		2197	4294	6491	SO:0001583	missense	161753	exon4			TGGACCTCACGCC	BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.692T>C	15.37:g.76019748T>C	ENSP00000329584:p.Leu231Pro		75	0	0		52	0.06	3	NM_175881	4	0	0		Missense_Mutation	SNP	ENST00000332145.2	37	CCDS10285.1	.	.	.	.	.	.	.	.	.	.	.	1.610	-0.524370	0.04141	.	.	ENSG00000182950	ENST00000332145	T	0.30182	1.54	4.86	-0.357	0.12579	.	0.895465	0.09609	N	0.779167	T	0.13457	0.0326	N	0.11201	0.11	0.31489	N	0.666259	B	0.12013	0.005	B	0.04013	0.001	T	0.29518	-1.0009	10	0.30078	T	0.28	-15.9679	3.6441	0.08178	0.5666:0.0:0.2738:0.1596	.	231	Q8IXM7	OD3L1_HUMAN	P	231	ENSP00000329584:L231P	ENSP00000329584:L231P	L	+	2	0	ODF3L1	73806803	0.109000	0.22037	0.733000	0.30861	0.006000	0.05464	0.019000	0.13444	-0.234000	0.09782	-1.646000	0.00762	CTC			0.632	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286473.1		NM_175881		C	76019748	T	C	76019748	3	2	42	1	0	0	0	0	1	0	0	0	10848	1551	54	4	706	4	ODF3L1	15	76019748	Missense_Mutation	SNP	T	TCGA-2G-AAGY-01A-11D-A42Y-10	33844339	76019748	26511644	58	2991											
AKAP13	11214	bcgsc.ca	37	chr15	86118561	86118561	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatccaacagcaactaatgGtaagtcagaaagcttttatt	16	11	6	8	0	1	1	1	0	0	1	2	1	2	1	1	1	4	3	1	1	6	5			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr15:86118561G>T	ENST00000394518.2	+	6	956		c.e6+1		AKAP13_ENST00000361243.2_Splice_Site	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						GCAACTAATGGTAAGTCAGAA	0.383																																					.	Melanoma(94;603 1453 3280 32295 32951)												.	AKAP13	394		0			c.861+1G>T												90	89	89					15																	86118561		2202	4299	6501	SO:0001630	splice_region_variant	11214	exon6			CTAATGGTAAGTC	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.861+1G>T	15.37:g.86118561G>T			116	0	0		115	0	0	NM_006738	0		0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Splice_Site	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038798	0.55003	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7506	0.69522	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP13	83919565	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	4.162000	0.58177	2.941000	0.99782	0.655000	0.94253	.			0.383	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000417318.1		NM_007200	Intron	T	86118561	G	T	86118561	5	4	42	1	0	0	0	0	0	0	1	0	449	1275	44	3	880	3	AKAP13	15	86118561	Splice_Site	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	10098813	86118561	16412831	59	2992											
ZNF174	7727	bcgsc.ca	37	chr16	3458752	3458752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtccacacaggagagagaCcctacacgtgcggagagtgt	12	5	14	10	2	0	3	0	0	0	3	1	7	1	3	2	2	2	0	2	2	1	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr16:3458752C>A	ENST00000268655.4	+	3	1642	c.1057C>A	c.(1057-1059)Ccc>Acc	p.P353T	ZNF174_ENST00000571936.1_Missense_Mutation_p.P353T	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	353					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AGGAGAGAGACCCTACACGTG	0.532																																					p.P353T													.	ZNF174	32		0			c.C1057A												57	63	61					16																	3458752		2197	4300	6497	SO:0001583	missense	7727	exon3			GAGAGACCCTACA	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.1057C>A	16.37:g.3458752C>A	ENSP00000268655:p.Pro353Thr		142	0	0		112	0	0	NM_003450	66	0	0	Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880733	0.51801	.	.	ENSG00000103343	ENST00000268655	T	0.56275	0.47	4.72	4.72	0.59763	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000286	T	0.71264	0.3319	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73069	-0.4099	10	0.66056	D	0.02	.	16.0081	0.80377	0.0:1.0:0.0:0.0	.	353	Q15697	ZN174_HUMAN	T	353	ENSP00000268655:P353T	ENSP00000268655:P353T	P	+	1	0	ZNF174	3398753	1.000000	0.71417	0.998000	0.56505	0.367000	0.29736	5.888000	0.69758	2.906000	0.99361	0.655000	0.94253	CCC			0.532	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251510.1		NM_003450		A	3458752	C	A	3458752	3	1	42	1	0	0	0	0	1	0	0	0	17767	507	18	3	1151	3	ZNF174	16	3458752	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		3458752	86896001	60	2993											
C16orf53	79447	mdanderson.org	37	chr16	29828146	29828146	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggtggagctgcctgcGgatgggcagccctggatgcc	6	6	19	10	1	0	0	0	0	0	0	0	5	0	4	3	6	5	2	3	6	0	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr16:29828146G>T	ENST00000320330.6	+	1	862	c.300G>T	c.(298-300)gcG>gcT	p.A100A	AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Silent_p.A100A|AC009133.12_ENST00000564980.1_RNA|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	100	Glu-rich.					histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											AGCTGCCTGCGGATGGGCAGC	0.682											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A100A													.	.			0			c.G300T												9	8	8					16																	29828146		2156	4253	6409	SO:0001819	synonymous_variant	79447	exon1			GCCTGCGGATGGG	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	612033	"chromosome 16 open reading frame 53"	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.300G>T	16.37:g.29828146G>T			49	0	0	812	46	0.07	3	NM_024516	259	0	0	A2ICR6	Silent	SNP	ENST00000320330.6	37	CCDS10655.1																																																																																					0.682	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding		OTTHUMT00000473165.1		NM_024516		T	29828146	G	T	29828146	2	4	42	1	0	0	0	0	0	0	0	1	1820	1103	39	1		1	C16orf53	16	29828146	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	26369394	29828146	60526607	61	2994											
CORO1A	11151	mdanderson.org	37	chr16	30198177	30198177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgatgctgcccctgcGggagcccgtcgtcaccctgg	3	7	15	16	3	1	1	1	1	0	0	2	2	1	2	5	3	4	1	5	3	0	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr16:30198177G>T	ENST00000219150.5	+	4	667	c.362G>T	c.(361-363)cGg>cTg	p.R121L	CORO1A_ENST00000570045.1_Missense_Mutation_p.R121L|CORO1A_ENST00000565497.1_Missense_Mutation_p.R121L|RP11-455F5.5_ENST00000568506.1_RNA|RP11-455F5.5_ENST00000566144.1_RNA|RP11-455F5.5_ENST00000567153.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	121					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CTGCCCCTGCGGGAGCCCGTC	0.642																																					p.R121L													.	.			0			c.G362T												28	33	31					16																	30198177		2197	4299	6496	SO:0001583	missense	11151	exon5			CCCTGCGGGAGCC	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.362G>T	16.37:g.30198177G>T	ENSP00000219150:p.Arg121Leu		54	0	0		37	0.08	3	NM_001193333	171	0	0	B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.292372	0.59976	.	.	ENSG00000102879	ENST00000219150	T	0.01178	5.22	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.199851	0.39341	N	0.001393	T	0.01661	0.0053	N	0.19112	0.55	0.38972	D	0.958767	B;P;B	0.39376	0.059;0.67;0.003	B;P;B	0.48227	0.075;0.571;0.028	T	0.65705	-0.6103	10	0.66056	D	0.02	-10.0415	8.1642	0.31217	0.083:0.1603:0.7567:0.0	.	121;155;121	B4DJS1;Q59G88;P31146	.;.;COR1A_HUMAN	L	121	ENSP00000219150:R121L	ENSP00000219150:R121L	R	+	2	0	CORO1A	30105678	0.992000	0.36948	0.998000	0.56505	0.908000	0.53690	4.462000	0.60121	2.645000	0.89757	0.655000	0.94253	CGG			0.642	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255195.2		NM_007074		T	30198177	G	T	30198177	3	4	42	1	0	0	0	0	1	0	0	0	3755	1116	39	1	372	1	CORO1A	16	30198177	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	370031	30198177	60156576	62	2995											
SETD1A	9739	broad.mit.edu;mdanderson.org	37	chr16	30992480	30992480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgagatggtcatcgaataCgtgggtcagaacatccgtca	12	8	12	9	4	3	2	3	0	0	2	5	5	4	2	1	2	2	0	1	2	3	1	rs377613466		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr16:30992480C>T	ENST00000262519.8	+	17	5477	c.4791C>T	c.(4789-4791)taC>taT	p.Y1597Y		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1597	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						TCATCGAATACGTGGGTCAGA	0.582																																					p.Y1597Y													.	SETD1A	143		0			c.C4791T							C		0,4394		0,0,2197	118	107	111		4791	-3.5	1	16		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SETD1A	NM_014712.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		1597/1708	30992480	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	9739	exon17			CGAATACGTGGGT	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.4791C>T	16.37:g.30992480C>T			72	0	0		86	0.06	5	NM_014712	188	0.01	1	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																					0.582	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318244.2		NM_014712		T	30992480	C	T	30992480	2	4	42	1	0	0	0	0	0	0	0	1	14153	547	19	1		1	SETD1A	16	30992480	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	794303	30992480	59362273	63	2996											
RLTPR	146206	mdanderson.org	37	chr16	67683467	67683467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atatcagcggcaacgccatgGgggacgcgggcgccaagttg	9	5	16	11	5	1	0	1	0	0	0	1	1	1	1	2	4	2	2	2	4	3	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr16:67683467G>A	ENST00000334583.6	+	20	2192	c.1864G>A	c.(1864-1866)Ggg>Agg	p.G622R	RLTPR_ENST00000545661.1_Missense_Mutation_p.G586R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	622	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAACGCCATGGGGGACGCGGG	0.701																																					p.G622R													.	.			0			c.G1864A												22	26	25					16																	67683467		1966	4132	6098	SO:0001583	missense	146206	exon20			GCCATGGGGGACG	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1864G>A	16.37:g.67683467G>A	ENSP00000334958:p.Gly622Arg		18	0	0		9	0.22	2	NM_001013838	7	0	0	B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	35	5.496153	0.96355	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.71934	-0.61;-0.61	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.87285	0.6139	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89672	0.3884	10	0.62326	D	0.03	-8.4601	18.1015	0.89507	0.0:0.0:1.0:0.0	.	586;622	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	R	622;586	ENSP00000334958:G622R;ENSP00000441481:G586R	ENSP00000334958:G622R	G	+	1	0	RLTPR	66240968	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.869000	0.99810	2.390000	0.81377	0.561000	0.74099	GGG			0.701	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000467858.1		NM_001013838		A	67683467	G	A	67683467	3	1	42	1	0	0	0	0	1	0	0	0	13417	1232	43	3	1942	3	RLTPR	16	67683467	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	36690987	67683467	22671286	64	2997											
HYDIN	54768	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	70913326	70913326	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaactggccgcacaaccgtCactcgagggaggttcccctc	9	6	11	15	3	1	1	1	0	0	1	4	3	2	2	4	3	2	2	4	3	2	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr16:70913326C>G	ENST00000393567.2	-	62	10581	c.10431G>C	c.(10429-10431)gtG>gtC	p.V3477V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3477					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)				GCACAACCGTCACTCGAGGGA	0.552																																					p.V3477V													.	.			0			c.G10431C												21	24	23					16																	70913326		1839	4087	5926	SO:0001819	synonymous_variant	54768	exon62			AACCGTCACTCGA	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.10431G>C	16.37:g.70913326C>G			81	0	0		63	0.3	19	NM_001270974	12	0.17	2	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																					0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000398624.3				G	70913326	C	G	70913326	2	3	42	1	0	0	0	0	0	0	0	1	7482	813	29	5		5	HYDIN	16	70913326	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	3229859	70913326	19441427	65	2998											
RHBDL3	162494	broad.mit.edu	37	chr17	30615824	30615824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacagatgagcaacaagcGttccaacagcttccgccaag	13	6	9	13	2	0	2	0	1	0	1	2	2	2	2	3	0	6	4	3	0	4	2	rs140645420		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr17:30615824G>T	ENST00000269051.4	+	4	322	c.308G>T	c.(307-309)cGt>cTt	p.R103L	RHBDL3_ENST00000536287.1_Missense_Mutation_p.R5L|RHBDL3_ENST00000538145.1_Missense_Mutation_p.R95L	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	103	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				AGCAACAAGCGTTCCAACAGC	0.622																																					p.R103L													.	RHBDL3	49		0			c.G308T												37	32	34					17																	30615824		2203	4300	6503	SO:0001583	missense	162494	exon4			ACAAGCGTTCCAA	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.308G>T	17.37:g.30615824G>T	ENSP00000269051:p.Arg103Leu		175	0.0057142857	1		209	0.02	4	NM_138328	21	0	0	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113351	0.94339	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.66995	-0.24;0.39;0.78;0.81	5.69	5.69	0.88448	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.994	T	0.77256	-0.2655	10	0.72032	D	0.01	-9.8586	19.8011	0.96507	0.0:0.0:1.0:0.0	.	103;95;103	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	L	103;103;95;5	ENSP00000394849:R103L;ENSP00000269051:R103L;ENSP00000442092:R95L;ENSP00000466508:R5L	ENSP00000269051:R103L	R	+	2	0	RHBDL3	27639937	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.476000	0.97823	2.679000	0.91253	0.561000	0.74099	CGT			0.622	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000447120.1		NM_138328		T	30615824	G	T	30615824	3	4	42	1	0	0	0	0	1	0	0	0	13346	1145	40	1	322	1	RHBDL3	17	30615824	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10		30615824	50579386	66	2999											
TMEM132E	124842	mdanderson.org	37	chr17	32964258	32964258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccccactctccctctaCagcccacgagactatggact	10	7	6	18	1	2	1	0	0	2	1	3	3	2	2	4	1	3	0	4	1	2	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr17:32964258C>T	ENST00000321639.5	+	10	2290	c.1962C>T	c.(1960-1962)taC>taT	p.Y654Y		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	654						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCTCCCTCTACAGCCCACGAG	0.602																																					p.Y654Y													.	.			0			c.C1962T												95	84	87					17																	32964258		2203	4300	6503	SO:0001819	synonymous_variant	124842	exon10			CCTCTACAGCCCA	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1962C>T	17.37:g.32964258C>T			105	0	0		64	0.06	4	NM_207313	6	0	0	Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	CCDS11283.1																																																																																					0.602	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256440.2		NM_207313		T	32964258	C	T	32964258	2	4	42	1	0	0	0	0	0	0	0	1	16071	489	17	3		3	TMEM132E	17	32964258	Silent	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	2348434	32964258	48230952	67	3000											
ERBB2	2064	broad.mit.edu	37	chr17	37868702	37868702	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgccggagagctttgatggGtaagagtgggcacgatgacc	9	8	16	8	2	0	4	0	2	0	2	0	6	0	4	2	3	2	3	2	3	1	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr17:37868702G>T	ENST00000269571.5	+	9	1307		c.e9+1		ERBB2_ENST00000406381.2_Splice_Site|ERBB2_ENST00000541774.1_Splice_Site|ERBB2_ENST00000445658.2_Splice_Site|ERBB2_ENST00000540147.1_Splice_Site|ERBB2_ENST00000584601.1_Splice_Site|ERBB2_ENST00000540042.1_Splice_Site|ERBB2_ENST00000578199.1_Splice_Site|ERBB2_ENST00000584450.1_Splice_Site			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2						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)	GCTTTGATGGGTAAGAGTGGG	0.552		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																											.				Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	.	ERBB2	429		0			c.1058+1G>T												59	47	51					17																	37868702		2203	4300	6503	SO:0001630	splice_region_variant	2064	exon12			TGATGGGTAAGAG	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.1148+1G>T	17.37:g.37868702G>T			135	0	0		128	0.03	4	NM_001005862	9	0	0	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Splice_Site	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512213	0.85389	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7276	0.91720	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2	35122228	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.848000	0.92172	2.725000	0.93324	0.591000	0.81541	.			0.552	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445621.2			Intron	T	37868702	G	T	37868702	5	4	42	1	0	0	0	0	0	0	1	0	5213	1275	44	3	1183	3	ERBB2	17	37868702	Splice_Site	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	4904444	37868702	43326508	68	3001											
MKNK2	2872	mdanderson.org	37	chr19	2043519	2043519	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacctgtgtccctggcactgGtacagcatctccacctccct	6	11	7	17	0	1	0	0	0	1	0	4	0	3	0	5	2	3	3	5	2	2	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:2043519G>T	ENST00000591601.1	-	5	437	c.402C>A	c.(400-402)taC>taA	p.Y134*	MKNK2_ENST00000250896.3_Nonsense_Mutation_p.Y134*|MKNK2_ENST00000309340.7_Nonsense_Mutation_p.Y134*|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000541165.1_Nonsense_Mutation_p.Y3*			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		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)		CCTGGCACTGGTACAGCATCT	0.587																																					p.Y134X													.	.			0			c.C402A												159	109	126					19																	2043519		2203	4300	6503	SO:0001587	stop_gained	2872	exon6			GCACTGGTACAGC	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.402C>A	19.37:g.2043519G>T	ENSP00000467811:p.Tyr134*		82	0	0		53	0.06	3	NM_017572	152	0	0	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Nonsense_Mutation	SNP	ENST00000591601.1	37	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	G	38	6.700397	0.97772	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	.	.	.	4.47	2.19	0.27852	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0814	5.7137	0.17948	0.4211:0.0:0.5789:0.0	.	.	.	.	X	134;134;3;87	.	ENSP00000250896:Y134X	Y	-	3	2	MKNK2	1994519	0.127000	0.22367	1.000000	0.80357	0.983000	0.72400	-0.527000	0.06200	0.207000	0.20607	-0.367000	0.07326	TAC			0.587	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000449312.1		NM_199054		T	2043519	G	T	2043519	4	4	42	1	0	0	0	0	0	1	0	0	9621	1256	44	3	1126	3	MKNK2	19	2043519	Nonsense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10		2043519	57085464	69	3002											
VAV1	7409	mdanderson.org	37	chr19	6833570	6833570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagggctaccgctgccatCggtgccgggcatctgcacac	7	7	12	15	3	2	0	1	0	1	0	3	0	2	0	3	3	4	4	3	3	1	1	rs527259397		TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:6833570C>T	ENST00000602142.1	+	17	1724	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	VAV1_ENST00000599806.1_Missense_Mutation_p.R493W|VAV1_ENST00000596764.1_Missense_Mutation_p.R516W|VAV1_ENST00000539284.1_Missense_Mutation_p.R451W|VAV1_ENST00000304076.2_Missense_Mutation_p.R548W	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	548					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCGCTGCCATCGGTGCCGGGC	0.562																																					p.R548W													.	.			0			c.C1642T												114	111	112					19																	6833570		2203	4300	6503	SO:0001583	missense	7409	exon17			TGCCATCGGTGCC		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1642C>T	19.37:g.6833570C>T	ENSP00000472929:p.Arg548Trp		94	0	0		56	0.05	3	NM_005428	23	0	0	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509681	0.64522	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.91351	-2.83;-2.83	4.73	2.47	0.30058	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.125701	0.53938	D	0.000052	D	0.93223	0.7841	M	0.64997	1.995	0.53005	D	0.999965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.945;0.984;0.948;0.964	D	0.92145	0.5723	10	0.72032	D	0.01	.	11.0411	0.47831	0.3491:0.6509:0.0:0.0	.	451;548;493;548	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	548;451	ENSP00000302269:R548W;ENSP00000443242:R451W	ENSP00000302269:R548W	R	+	1	2	VAV1	6784570	0.742000	0.28228	0.752000	0.31206	0.869000	0.49853	1.441000	0.35035	0.365000	0.24400	0.491000	0.48974	CGG			0.562	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458475.1				T	6833570	C	T	6833570	3	4	42	1	0	0	0	0	1	0	0	0	17155	875	31	1	1708	1	VAV1	19	6833570	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	4790051	6833570	52295413	70	3003											
LASS4	79603	mdanderson.org	37	chr19	8326962	8326962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagccgggtggccgggcGtctgaccaacaggcacacaa	9	4	15	13	4	1	1	0	1	1	0	2	2	1	2	3	5	2	1	3	5	2	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:8326962G>T	ENST00000251363.5	+	12	1454	c.1154G>T	c.(1153-1155)cGt>cTt	p.R385L	CERS4_ENST00000559336.1_Missense_Mutation_p.R297L|CERS4_ENST00000559450.1_Missense_Mutation_p.R385L|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000558331.1_Missense_Mutation_p.R334L	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	385					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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GTGGCCGGGCGTCTGACCAAC	0.687																																					p.R385L													.	.			0			c.G1154T												6	8	7					19																	8326962		2135	4203	6338	SO:0001583	missense	79603	exon12			CCGGGCGTCTGAC		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.1154G>T	19.37:g.8326962G>T	ENSP00000251363:p.Arg385Leu		30	0	0		21	0.14	3	NM_024552	159	0.01	1	D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118650	0.37436	.	.	ENSG00000090661	ENST00000251363	T	0.05513	3.43	4.94	-4.27	0.03744	.	6.780140	0.00166	N	0.000011	T	0.06416	0.0165	L	0.45581	1.43	0.09310	N	1	P;P	0.38827	0.649;0.649	B;B	0.32090	0.14;0.14	T	0.40942	-0.9536	10	0.27785	T	0.31	-15.0369	10.3423	0.43887	0.5916:0.0:0.4083:0.0	.	385;385	Q53HF9;Q9HA82	.;CERS4_HUMAN	L	385	ENSP00000251363:R385L	ENSP00000251363:R385L	R	+	2	0	CERS4	8232962	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.118000	0.10692	-0.671000	0.05274	-0.333000	0.08304	CGT			0.687	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419200.1		NM_024552		T	8326962	G	T	8326962	3	4	42	1	0	0	0	0	1	0	0	0	8656	1145	40	1	1192	1	LASS4	19	8326962	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	1493392	8326962	50802021	71	3004											
BRD4	23476	mdanderson.org	37	chr19	15353857	15353857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggcgggggctgttggAtgtgggtggaaaactgcatg	6	9	22	4	1	0	0	0	0	0	0	0	2	0	2	0	8	2	3	0	8	2	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:15353857A>G	ENST00000263377.2	-	14	3244	c.3023T>C	c.(3022-3024)aTc>aCc	p.I1008T		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1008					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGCTGTTGGATGTGGGTGGA	0.716			T	C15orf55	lethal midline carcinoma of young people																																p.I1008T				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	.			0			c.T3023C												2	3	3					19																	15353857		1701	3503	5204	SO:0001583	missense	23476	exon14			TGTTGGATGTGGG	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3023T>C	19.37:g.15353857A>G	ENSP00000263377:p.Ile1008Thr		29	0.0344827586	1		24	0.13	3	NM_058243	14	0	0	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	A	4.055	0.007975	0.07866	.	.	ENSG00000141867	ENST00000263377	T	0.28666	1.6	4.1	4.1	0.47936	.	0.947923	0.08594	U	0.922592	T	0.19248	0.0462	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.05305	-1.0893	10	0.30078	T	0.28	-10.8709	8.6195	0.33853	0.8059:0.1941:0.0:0.0	.	1008	O60885	BRD4_HUMAN	T	1008	ENSP00000263377:I1008T	ENSP00000263377:I1008T	I	-	2	0	BRD4	15214857	1.000000	0.71417	0.905000	0.35620	0.216000	0.24613	4.603000	0.61105	1.491000	0.48482	0.379000	0.24179	ATC			0.716	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000465800.3		NM_058243		G	15353857	A	G	15353857	3	3	42	1	0	0	0	0	1	0	0	0	1506	333	12	4	1093	4	BRD4	19	15353857	Missense_Mutation	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	7026895	15353857	43775126	72	3005											
FBXO17	115290	mdanderson.org	37	chr19	39435736	39435736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccgcagttctctcgaGcgccccacctgccaggcagc	6	5	11	19	4	1	0	0	0	1	0	3	1	1	0	5	1	4	4	5	1	0	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:39435736G>T	ENST00000292852.4	-	5	907	c.566C>A	c.(565-567)gCt>gAt	p.A189D	FBXO17_ENST00000595329.1_Missense_Mutation_p.A189D|SARS2_ENST00000448145.2_Missense_Mutation_p.A24D|CTC-360G5.8_ENST00000599996.1_Silent_p.R93R	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	189	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GTTCTCTCGAGCGCCCCACCT	0.627																																					p.A198D													.	.			0			c.C593A												53	50	51					19																	39435736		2203	4300	6503	SO:0001583	missense	115290	exon5			TCTCGAGCGCCCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.566C>A	19.37:g.39435736G>T	ENSP00000292852:p.Ala189Asp		87	0	0		36	0.08	3	NM_148169	161	0	0	Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	37	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158888	0.38119	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.28666	1.6;1.6	4.58	4.58	0.56647	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.118955	0.35870	N	0.002926	T	0.46889	0.1416	L	0.53249	1.67	.	.	.	D;D	0.76494	0.993;0.999	D;D	0.87578	0.929;0.998	T	0.35201	-0.9798	9	0.11182	T	0.66	.	15.2292	0.73374	0.0:0.0:1.0:0.0	.	24;189	E7EX87;Q96EF6	.;FBX17_HUMAN	D	24;198;189	ENSP00000399330:A24D;ENSP00000292852:A189D	ENSP00000292852:A189D	A	-	2	0	FBXO17	44127576	1.000000	0.71417	0.889000	0.34880	0.189000	0.23516	6.026000	0.70873	2.530000	0.85305	0.467000	0.42956	GCT			0.627	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463273.1		NM_024907		T	39435736	G	T	39435736	3	4	42	1	0	0	0	0	1	0	0	0	5743	971	34	2	278	2	FBXO17	19	39435736	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	24081879	39435736	19693247	73	3006											
ELSPBP1	64100	mdanderson.org	37	chr19	48517554	48517554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggccagtggaagtactGccagagtgaaggtgagtggt	11	7	16	7	1	0	3	0	2	0	1	0	4	0	4	2	4	3	1	2	4	4	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:48517554G>T	ENST00000339841.2	+	3	375	c.197G>T	c.(196-198)tGc>tTc	p.C66F	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	66	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TGGAAGTACTGCCAGAGTGAA	0.478																																					p.C66F													ELSPBP1,brain,glioma,+1,1	ELSPBP1	1	1	0			c.G197T												145	126	133					19																	48517554		2203	4300	6503	SO:0001583	missense	64100	exon3			AGTACTGCCAGAG	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.197G>T	19.37:g.48517554G>T	ENSP00000340660:p.Cys66Phe		97	0	0		71	0.06	4	NM_022142	0		0	Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804879	0.31961	.	.	ENSG00000169393	ENST00000339841	D	0.91996	-2.95	3.27	2.23	0.28157	Fibronectin, type II, collagen-binding (4);Kringle-like fold (2);	0.000000	0.38663	N	0.001617	D	0.96442	0.8839	H	0.96111	3.77	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89321	0.3640	10	0.72032	D	0.01	.	6.2031	0.20587	0.1387:0.0:0.8613:0.0	.	66	Q96BH3	ESPB1_HUMAN	F	66	ENSP00000340660:C66F	ENSP00000340660:C66F	C	+	2	0	ELSPBP1	53209366	0.075000	0.21258	0.004000	0.12327	0.013000	0.08279	2.433000	0.44793	0.929000	0.37192	0.544000	0.68410	TGC			0.478	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465207.1				T	48517554	G	T	48517554	3	4	42	1	0	0	0	0	1	0	0	0	5090	1319	46	2	203	2	ELSPBP1	19	48517554	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	9081818	48517554	10611429	74	3007											
RPL18	6141	mdanderson.org	37	chr19	49119198	49119198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacctctcggcccttgcGaggacctagggaaggggaag	9	6	15	11	2	1	0	0	0	1	0	2	4	1	3	3	5	2	1	3	5	4	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:49119198G>T	ENST00000549920.1	-	6	819	c.427C>A	c.(427-429)Cgc>Agc	p.R143S	RPL18_ENST00000549273.1_Missense_Mutation_p.R143S|FAM83E_ENST00000595110.1_5'Flank|FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000552588.1_Missense_Mutation_p.R114S|RPL18_ENST00000550645.1_Intron	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	143					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)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		CGGCCCTTGCGAGGACCTAGG	0.652																																					p.R143S													.	.			0			c.C427A												36	37	36					19																	49119198		2203	4300	6503	SO:0001583	missense	6141	exon6			CCTTGCGAGGACC	L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"L ribosomal proteins"	10310	protein-coding gene	gene with protein product	"60S ribosomal protein L18"	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.427C>A	19.37:g.49119198G>T	ENSP00000447001:p.Arg143Ser		60	0	0		32	0.09	3	NM_000979	3704	0	1	F8VWC5|Q8WTZ6	Missense_Mutation	SNP	ENST00000549920.1	37	CCDS12726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.371362|5.371362	0.95923|0.95923	.|.	.|.	ENSG00000063177|ENSG00000063177	ENST00000549920;ENST00000552588;ENST00000549273;ENST00000550973|ENST00000084795;ENST00000546623	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87237|.	0.6127|.	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	D|.	0.59357|.	0.985|.	P|.	0.58391|.	0.838|.	D|.	0.90792|.	0.4687|.	9|.	0.87932|.	D|.	0|.	-15.3994|-15.3994	16.7117|16.7117	0.85387|0.85387	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	143|.	Q07020|.	RL18_HUMAN|.	S|X	143;114;143;91|144;121	.|.	ENSP00000449610:R143S|.	R|S	-|-	1|2	0|0	RPL18|RPL18	53811010|53811010	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.951000|0.951000	0.60555|0.60555	5.240000|5.240000	0.65378|0.65378	2.627000|2.627000	0.88993|0.88993	0.467000|0.467000	0.42956|0.42956	CGC|TCG			0.652	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405732.2		NM_000979		T	49119198	G	T	49119198	3	4	42	1	0	0	0	0	1	0	0	0	13587	1058	37	1	147	1	RPL18	19	49119198	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	601644	49119198	10009785	75	3008											
HRC	3270	mdanderson.org	37	chr19	49656771	49656771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcttcctccagccccTcctcctcctcctcttcctcc	2	13	2	24	0	3	0	1	0	2	0	11	0	11	0	10	0	1	1	10	0	0	2			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:49656771T>C	ENST00000252825.4	-	1	1910	c.1724A>G	c.(1723-1725)gAg>gGg	p.E575G	HRC_ENST00000595625.1_Missense_Mutation_p.E575G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	575					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ctccagcccctcctcctcctc	0.637																																					p.E575G	Melanoma(37;75 1097 24567 25669 30645)												.	.			0			c.A1724G												49	33	38					19																	49656771		2203	4300	6503	SO:0001583	missense	3270	exon1			AGCCCCTCCTCCT		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1724A>G	19.37:g.49656771T>C	ENSP00000252825:p.Glu575Gly		63	0	0		42	0.07	3	NM_002152	15	0	0	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	T	4.314	0.057620	0.08339	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.47177	0.85	2.41	-2.75	0.05914	.	.	.	.	.	T	0.29914	0.0748	L	0.40543	1.245	0.20821	N	0.999846	B	0.12630	0.006	B	0.12837	0.008	T	0.20974	-1.0259	9	0.27082	T	0.32	.	2.3326	0.04239	0.4091:0.2796:0.0:0.3112	.	575	P23327	SRCH_HUMAN	G	575;265	ENSP00000252825:E575G	ENSP00000252825:E575G	E	-	2	0	HRC	54348583	0.004000	0.15560	0.193000	0.23327	0.258000	0.26162	0.473000	0.22132	-0.764000	0.04651	0.232000	0.17820	GAG			0.637	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465649.1		NM_002152		C	49656771	T	C	49656771	3	2	42	1	0	0	0	0	1	0	0	0	7367	1551	54	4	399	4	HRC	19	49656771	Missense_Mutation	SNP	T	TCGA-2G-AAGY-01A-11D-A42Y-10	537573	49656771	9472212	76	3009											
PRR12	57479	mdanderson.org	37	chr19	50100336	50100336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcaggcgcctaccgcaGccccagcccgcaaggcacca	8	2	10	21	4	0	0	0	0	0	0	1	0	1	0	7	2	3	4	7	2	2	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:50100336G>T	ENST00000418929.2	+	4	2756	c.2744G>T	c.(2743-2745)aGc>aTc	p.S915I		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)		GCCTACCGCAGCCCCAGCCCG	0.682																																					p.S915I													.	.			0			c.G2744T												6	9	8					19																	50100336		1973	4084	6057	SO:0001583	missense	57479	exon4			ACCGCAGCCCCAG	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.2744G>T	19.37:g.50100336G>T	ENSP00000394510:p.Ser915Ile		98	0	0		41	0.07	3	NM_020719	96	0	0	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348669	0.24426	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.63	3.57	0.40892	.	0.000000	0.50627	D	0.000114	T	0.54271	0.1848	L	0.43152	1.355	0.41300	D	0.987038	B	0.06786	0.001	B	0.10450	0.005	T	0.56257	-0.8009	9	0.72032	D	0.01	-23.8515	12.9627	0.58468	0.0:0.0:0.8364:0.1636	.	915	Q9ULL5-3	.	I	915;95;95	.	ENSP00000246798:S95I	S	+	2	0	PRR12	54792148	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.636000	0.46545	1.133000	0.42147	0.313000	0.20887	AGC			0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465915.1		NM_020719		T	50100336	G	T	50100336	3	4	42	1	0	0	0	0	1	0	0	0	12604	971	34	2	2758	2	PRR12	19	50100336	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	443565	50100336	9028647	77	3010											
SIGLEC8	27181	mdanderson.org	37	chr19	51958842	51958842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggctcccccgggtccagCtcagcctggcagggggattg	5	7	15	14	1	2	0	2	0	0	0	4	1	4	1	4	5	2	3	4	5	0	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:51958842C>T	ENST00000321424.3	-	4	947	c.881G>A	c.(880-882)aGc>aAc	p.S294N	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S185N|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S201N	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	294	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCGGGTCCAGCTCAGCCTGGC	0.627																																					p.S294N													SIGLEC8,NS,carcinoma,+1,1	SIGLEC8	1	1	0			c.G881A												56	56	56					19																	51958842		2203	4300	6503	SO:0001583	missense	27181	exon4			GTCCAGCTCAGCC	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.881G>A	19.37:g.51958842C>T	ENSP00000321077:p.Ser294Asn		91	0	0		45	0.07	3	NM_014442	5	0	0	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.827082	0.50739	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.12984	2.63;2.63;2.63	2.19	-0.435	0.12279	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.780759	0.10858	N	0.626477	T	0.37945	0.1022	M	0.88640	2.97	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.963	D;D;D	0.78314	0.978;0.991;0.931	T	0.11131	-1.0600	10	0.59425	D	0.04	.	7.5588	0.27839	0.0:0.4677:0.5322:0.0	.	185;201;294	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	N	185;294;201	ENSP00000389142:S185N;ENSP00000321077:S294N;ENSP00000339448:S201N	ENSP00000321077:S294N	S	-	2	0	SIGLEC8	56650654	0.739000	0.28196	0.086000	0.20670	0.462000	0.32619	0.923000	0.28757	-0.004000	0.14419	0.502000	0.49764	AGC			0.627	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463648.2		NM_014442		T	51958842	C	T	51958842	3	4	42	1	0	0	0	0	1	0	0	0	14337	797	28	2	634	2	SIGLEC8	19	51958842	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	1858506	51958842	7170141	78	3011											
PRPF31	26121	mdanderson.org	37	chr19	54629912	54629912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctccaggatctgcggCggaaagcggcccggctggtg	5	7	17	12	5	1	0	0	0	1	0	2	2	2	2	2	6	3	3	2	6	1	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:54629912C>T	ENST00000321030.4	+	9	1214	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	PRPF31_ENST00000419967.1_Missense_Mutation_p.R289W|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Missense_Mutation_p.R289W	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	289	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATCTGCGGCGGAAAGCGGC	0.617																																					p.R289W													.	.			0			c.C865T												23	25	24					19																	54629912		2202	4299	6501	SO:0001583	missense	26121	exon9			CTGCGGCGGAAAG	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.865C>T	19.37:g.54629912C>T	ENSP00000324122:p.Arg289Trp		84	0	0		66	0.08	5	NM_015629	201	0	0	Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899757	0.72754	.	.	ENSG00000105618	ENST00000321030;ENST00000263436;ENST00000419967;ENST00000391755	T;T;T	0.63744	-0.06;-0.06;-0.06	5.56	4.51	0.55191	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.049113	0.85682	D	0.000000	T	0.81856	0.4911	M	0.91300	3.195	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.85385	0.1122	10	0.66056	D	0.02	-44.8434	12.3604	0.55199	0.4162:0.5838:0.0:0.0	.	289;289	E7ESA8;Q8WWY3	.;PRP31_HUMAN	W	289	ENSP00000324122:R289W;ENSP00000405166:R289W;ENSP00000375635:R289W	ENSP00000263436:R289W	R	+	1	2	PRPF31	59321724	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.885000	0.48570	1.474000	0.48178	0.655000	0.94253	CGG			0.617	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000141417.2				T	54629912	C	T	54629912	3	4	42	1	0	0	0	0	1	0	0	0	12586	759	27	1	895	1	PRPF31	19	54629912	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10	2671070	54629912	4499071	79	3012											
EPN1	29924	mdanderson.org	37	chr19	56196955	56196955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgacgaggaccggctgcGggaagagcgggcgcacgcgc	7	1	20	13	9	0	1	0	0	0	1	0	5	0	3	1	4	2	2	1	4	1	0			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr19:56196955G>T	ENST00000270460.6	+	3	733	c.422G>T	c.(421-423)cGg>cTg	p.R141L	EPN1_ENST00000411543.2_Missense_Mutation_p.R252L|AC010525.2_ENST00000390145.1_RNA|EPN1_ENST00000591743.1_3'UTR|EPN1_ENST00000085079.7_Missense_Mutation_p.R141L	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	141	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GACCGGCTGCGGGAAGAGCGG	0.667																																					p.R252L													.	.			0			c.G755T												29	34	32					19																	56196955		2191	4291	6482	SO:0001583	missense	29924	exon4			GGCTGCGGGAAGA	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.422G>T	19.37:g.56196955G>T	ENSP00000270460:p.Arg141Leu		37	0	0		31	0.1	3	NM_001130071	388	0	0	Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721414	0.68959	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.49720	0.77;0.77;0.77	4.74	4.74	0.60224	ENTH/VHS (2);Epsin-like, N-terminal (2);	0.057992	0.64402	D	0.000004	T	0.66076	0.2753	M	0.86420	2.815	0.80722	D	1	B;D;P;P	0.76494	0.298;0.999;0.711;0.886	B;D;B;P	0.63113	0.41;0.911;0.24;0.596	T	0.70702	-0.4799	10	0.87932	D	0	-23.654	7.3169	0.26505	0.1812:0.0:0.8187:0.0	.	102;252;141;141	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	L	141;141;102;252	ENSP00000270460:R141L;ENSP00000085079:R141L;ENSP00000406209:R252L	ENSP00000085079:R141L	R	+	2	0	EPN1	60888767	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.241000	0.58707	2.639000	0.89480	0.555000	0.69702	CGG			0.667	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453610.1		NM_013333		T	56196955	G	T	56196955	3	4	42	1	0	0	0	0	1	0	0	0	5192	1116	39	1	769	1	EPN1	19	56196955	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	1567043	56196955	2932028	80	3013											
NINL	22981	mdanderson.org	37	chr20	25457291	25457291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcctgggcttgcctgCggcgaggcccggctcctgcc	1	9	15	16	3	0	0	0	0	0	0	2	1	2	0	5	4	3	2	5	4	0	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr20:25457291C>T	ENST00000278886.6	-	17	2709	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	879					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						GGCTTGCCTGCGGCGAGGCCC	0.721																																					p.R879H													NINL,NS,carcinoma,-1,1	NINL	-1	1	0			c.G2636A																																									SO:0001583	missense	22981	exon17			TGCCTGCGGCGAG		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.2636G>A	20.37:g.25457291C>T	ENSP00000278886:p.Arg879His		27	0.037037037	1		22	0.14	3	NM_025176	63	0	0	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	6.191	0.403363	0.11754	.	.	ENSG00000101004	ENST00000278886	T	0.26810	1.71	1.58	0.595	0.17490	.	8.874680	0.00166	N	0.000001	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19976	-1.0289	10	0.44086	T	0.13	16.0881	4.143	0.10203	0.0:0.7772:0.0:0.2228	.	879	Q9Y2I6	NINL_HUMAN	H	879	ENSP00000278886:R879H	ENSP00000278886:R879H	R	-	2	0	NINL	25405291	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.040000	0.03546	0.222000	0.20900	0.561000	0.74099	CGC			0.721	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078445.3		NM_025176		T	25457291	C	T	25457291	3	4	42	1	0	0	0	0	1	0	0	0	10437	768	27	1	1544	1	NINL	20	25457291	Missense_Mutation	SNP	C	TCGA-2G-AAGY-01A-11D-A42Y-10		25457291	37568229	81	3014											
DDX27	55661	broad.mit.edu	37	chr20	47858511	47858511	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgaaggatgccaaaaaaaAgggggagatgacagtgagtg	17	6	15	3	0	0	4	0	3	0	1	0	6	0	5	1	3	1	0	1	3	6	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr20:47858511A>G	ENST00000371764.4	+	17	2081	c.2072A>G	c.(2071-2073)aAg>aGg	p.K691R	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						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)			GCCAAAAAAAAGGGGGAGATG	0.507																																					p.K691R													.	DDX27	74		0			c.A2072G												71	75	74					20																	47858511		2203	4300	6503	SO:0001583	missense	55661	exon17			AAAAAAAGGGGGA	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.2072A>G	20.37:g.47858511A>G	ENSP00000360828:p.Lys691Arg		110	0	0		110	0.04	4	NM_017895	339	0	1	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995783	0.74703	.	.	ENSG00000124228	ENST00000371764	T	0.01572	4.76	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.03434	0.0099	L	0.38175	1.15	0.80722	D	1	D	0.54207	0.965	P	0.50082	0.63	T	0.65269	-0.6209	10	0.30854	T	0.27	-29.335	14.1448	0.65344	1.0:0.0:0.0:0.0	.	691	Q96GQ7	DDX27_HUMAN	R	691	ENSP00000360828:K691R	ENSP00000360828:K691R	K	+	2	0	DDX27	47291918	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.872000	0.92352	2.232000	0.73038	0.397000	0.26171	AAG			0.507	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080485.1				G	47858511	A	G	47858511	3	3	42	1	0	0	0	0	1	0	0	0	4356	72	3	4	2138	4	DDX27	20	47858511	Missense_Mutation	SNP	A	TCGA-2G-AAGY-01A-11D-A42Y-10	22401220	47858511	15167009	82	3015											
GAB4	128954	bcgsc.ca	37	chr22	17488891	17488891	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccgctgtacagcacgtgGccacttctcgtgcttccgcc	5	9	10	17	4	1	0	0	0	1	0	3	0	2	0	4	1	4	4	4	1	1	3			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr22:17488891G>T	ENST00000400588.1	-	1	221	c.114C>A	c.(112-114)ggC>ggA	p.G38G	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	38										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)				ACAGCACGTGGCCACTTCTCG	0.682																																					p.G38G													.	GAB4	95		0			c.C114A												16	21	19					22																	17488891		2081	4220	6301	SO:0001819	synonymous_variant	128954	exon1			CACGTGGCCACTT	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.114C>A	22.37:g.17488891G>T			176	0.0056818182	1		172	0	0	NM_001037814	0		0		Silent	SNP	ENST00000400588.1	37	CCDS42976.1																																																																																					0.682	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315426.1		XM_372882		T	17488891	G	T	17488891	2	4	42	1	0	0	0	0	0	0	0	1	6164	1190	42	2		2	GAB4	22	17488891	Silent	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10		17488891	33815675	83	3016											
TFIP11	24144	mdanderson.org	37	chr22	26895573	26895573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagctgtagtagaccttctGctcccggcctgtcatgtcta	6	13	10	12	1	3	1	1	0	2	1	4	1	4	1	3	1	2	5	3	1	4	5			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr22:26895573G>T	ENST00000407690.1	-	9	1109	c.826C>A	c.(826-828)Cag>Aag	p.Q276K	TFIP11_ENST00000407431.1_Missense_Mutation_p.Q276K|TFIP11_ENST00000407148.1_Missense_Mutation_p.Q276K|TFIP11_ENST00000405938.1_Missense_Mutation_p.Q276K|TFIP11_ENST00000496523.1_5'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	276					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TAGACCTTCTGCTCCCGGCCT	0.542																																					p.Q276K													.	.			0			c.C826A												67	70	69					22																	26895573		2203	4300	6503	SO:0001583	missense	24144	exon10			CCTTCTGCTCCCG	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.826C>A	22.37:g.26895573G>T	ENSP00000384421:p.Gln276Lys		64	0	0		30	0.1	3	NM_001008697	100	0	0	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	CCDS13838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151772|3.151772	0.57151|0.57151	.|.	.|.	ENSG00000100109|ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938|ENST00000450493	T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.055362|.	0.64402|.	D|.	0.000001|.	T|T	0.61502|0.61502	0.2352|0.2352	L|L	0.39467|0.39467	1.215|1.215	0.80722|0.80722	D|D	1|1	P|.	0.49447|.	0.924|.	P|.	0.62298|.	0.9|.	T|T	0.56347|0.56347	-0.7994|-0.7994	10|5	0.09338|.	T|.	0.73|.	-41.4126|-41.4126	17.7056|17.7056	0.88308|0.88308	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	276|.	Q9UBB9|.	TFP11_HUMAN|.	K|R	276|126	ENSP00000384421:Q276K;ENSP00000383892:Q276K;ENSP00000385861:Q276K;ENSP00000384297:Q276K|.	ENSP00000384297:Q276K|.	Q|S	-|-	1|3	0|2	TFIP11|TFIP11	25225573|25225573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.285000|9.285000	0.95894|0.95894	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	CAG|AGC			0.542	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320750.1		NM_001008697		T	26895573	G	T	26895573	3	4	42	1	0	0	0	0	1	0	0	0	15830	1328	46	2	1715	2	TFIP11	22	26895573	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	9406682	26895573	24408993	84	3017											
SHANK3	85358	mdanderson.org	37	chr22	51169219	51169219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgggggcccgggcggcgggGcctcgtactcggtgaggccc	2	4	20	15	6	0	1	0	1	0	0	2	1	0	1	4	8	1	1	4	8	1	1			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chr22:51169219G>T	ENST00000414786.2	+	23	4887	c.4660G>T	c.(4660-4662)Gcc>Tcc	p.A1554S	SHANK3_ENST00000445220.2_Missense_Mutation_p.A1570S|SHANK3_ENST00000262795.3_Missense_Mutation_p.A1575S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1559					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		gggcggcggggccTCGTACTC	0.756																																					p.A1545S													.	.			0			c.G4633T												1	1	1					22																	51169219		389	908	1297	SO:0001583	missense	85358	exon22			GGCGGGGCCTCGT	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4660G>T	22.37:g.51169219G>T	ENSP00000464552:p.Ala1554Ser		15	0	0		12	0.17	2	NM_033517	21	0	0	D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37		.	.	.	.	.	.	.	.	.	.	G	12.38	1.921902	0.33908	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.32988	1.43;1.43	3.95	3.95	0.45737	.	0.259510	0.37809	N	0.001939	T	0.15262	0.0368	N	0.19112	0.55	0.25377	N	0.988645	P	0.34977	0.478	B	0.27380	0.079	T	0.11227	-1.0596	10	0.32370	T	0.25	.	7.3727	0.26810	0.1187:0.0:0.8813:0.0	.	1575	F2Z3L0	.	S	1575;1570	ENSP00000442518:A1575S;ENSP00000446078:A1570S	ENSP00000442518:A1575S	A	+	1	0	SHANK3	49516085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.772000	0.62324	2.046000	0.60703	0.561000	0.74099	GCC			0.756	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000316674.2		NM_001080420		T	51169219	G	T	51169219	3	4	42	1	0	0	0	0	1	0	0	0	14289	1203	42	2	4813	2	SHANK3	22	51169219	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10	24273646	51169219	135347	85	3018											
PTCHD1	139411	broad.mit.edu	37	chrX	23398203	23398203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgattctggtggttaccatgGccatcctgtgttgctctatg	5	16	11	9	0	2	1	0	1	2	0	3	1	3	1	3	3	2	3	3	3	2	4			TCGA-2G-AAGY-01A-11D-A42Y-10	TCGA-2G-AAGY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da2a7140-5541-4d62-8d1a-eb9ecab13e93	83598a70-86fa-44e5-833c-6d397c4dd186	g.chrX:23398203G>T	ENST00000379361.4	+	2	1707	c.847G>T	c.(847-849)Gcc>Tcc	p.A283S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	283	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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						GGTTACCATGGCCATCCTGTG	0.572																																					p.A283S													.	PTCHD1	213		0			c.G847T												147	124	132					X																	23398203		2203	4300	6503	SO:0001583	missense	139411	exon2			ACCATGGCCATCC	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.847G>T	X.37:g.23398203G>T	ENSP00000368666:p.Ala283Ser		112	0	0		194	0.03	5	NM_173495	0		0	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451158	0.63290	.	.	ENSG00000165186	ENST00000379361	D	0.92858	-3.12	4.86	4.86	0.63082	Sterol-sensing domain (1);	0.051865	0.85682	D	0.000000	D	0.93275	0.7857	L	0.33485	1.01	0.53688	D	0.999973	D;B	0.89917	1.0;0.022	D;B	0.78314	0.991;0.068	D	0.92212	0.5777	10	0.30854	T	0.27	.	17.4049	0.87470	0.0:0.0:1.0:0.0	.	178;283	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	S	283	ENSP00000368666:A283S	ENSP00000368666:A283S	A	+	1	0	PTCHD1	23308124	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.208000	0.95075	2.381000	0.81170	0.600000	0.82982	GCC			0.572	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056047.2		NM_173495		T	23398203	G	T	23398203	3	4	42	1	0	0	0	0	1	0	0	0	12752	1203	42	2	853	2	PTCHD1	23	23398203	Missense_Mutation	SNP	G	TCGA-2G-AAGY-01A-11D-A42Y-10		23398203	131872357	86	3019											
PLCH2	9651	broad.mit.edu	37	chr1	2436149	2436149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgtgcaggactgccccGtggctgccaagtccaagagc	7	6	15	13	2	0	1	0	0	0	1	1	2	1	2	4	3	4	2	4	3	2	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr1:2436149G>T	ENST00000419816.2	+	22	4022	c.3748G>T	c.(3748-3750)Gtg>Ttg	p.V1250L	PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.V1250L|PLCH2_ENST00000378488.3_Missense_Mutation_p.V1214L			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1250					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGACTGCCCCGTGGCTGCCAA	0.682																																					p.V1250L													.	PLCH2	131		0			c.G3748T												28	35	33					1																	2436149		2052	4166	6218	SO:0001583	missense	9651	exon22			TGCCCCGTGGCTG	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3748G>T	1.37:g.2436149G>T	ENSP00000389803:p.Val1250Leu		76	0	0		90	0.03	3	NM_014638	3	0	0	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.	.	.	.	.	.	.	.	.	.	G	6.856	0.527274	0.13066	.	.	ENSG00000149527	ENST00000378486;ENST00000378488;ENST00000278878	T;T	0.24538	1.98;1.85	4.41	2.35	0.29111	.	.	.	.	.	T	0.14270	0.0345	N	0.19112	0.55	0.09310	N	1	B;B	0.27823	0.19;0.145	B;B	0.23852	0.048;0.049	T	0.19321	-1.0309	9	0.42905	T	0.14	.	5.201	0.15264	0.21:0.1742:0.6158:0.0	.	1002;1250	B9DI82;O75038	.;PLCH2_HUMAN	L	1250;1214;1002	ENSP00000367747:V1250L;ENSP00000367749:V1214L	ENSP00000278878:V1002L	V	+	1	0	PLCH2	2426009	0.005000	0.15991	0.016000	0.15963	0.665000	0.39181	1.424000	0.34848	0.837000	0.34925	0.491000	0.48974	GTG			0.682	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000467514.1		NM_014638		T	2436149	G	T	2436149	3	4	43	1	0	0	0	0	1	0	0	0	12055	1145	40	1	3834	1	PLCH2	1	2436149	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		2436149	246814472	1	3020											
ZBTB48	3104	broad.mit.edu;mdanderson.org	37	chr1	6647661	6647661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgggcctcgagccggaatGgcctgcagatgcacatcaag	10	5	13	13	3	1	1	1	0	0	1	2	3	1	2	4	3	3	2	4	3	2	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr1:6647661G>T	ENST00000377674.4	+	7	1506	c.1348G>T	c.(1348-1350)Ggc>Tgc	p.G450C		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	450					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(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|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;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GAGCCGGAATGGCCTGCAGAT	0.622																																					p.G450C	Esophageal Squamous(125;1449 1657 4031 29866 49542)												.	ZBTB48	33		0			c.G1348T												88	83	85					1																	6647661		2203	4300	6503	SO:0001583	missense	3104	exon7			CGGAATGGCCTGC	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1348G>T	1.37:g.6647661G>T	ENSP00000366902:p.Gly450Cys		71	0	0		66	0.06	4	NM_005341	57	0	0	Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509972	0.85282	.	.	ENSG00000204859	ENST00000377674	T	0.15487	2.42	5.62	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.28740	0.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03597	-1.1021	10	0.40728	T	0.16	-29.22	16.0133	0.80420	0.0:0.1347:0.8653:0.0	.	450	P10074	ZBT48_HUMAN	C	450	ENSP00000366902:G450C	ENSP00000366902:G450C	G	+	1	0	ZBTB48	6570248	1.000000	0.71417	0.525000	0.27900	0.995000	0.86356	7.804000	0.85993	1.515000	0.48885	0.561000	0.74099	GGC			0.622	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004193.1		NM_005341		T	6647661	G	T	6647661	3	4	43	1	0	0	0	0	1	0	0	0	17572	1348	47	3	1370	3	ZBTB48	1	6647661	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	4211512	6647661	242602960	2	3021											
SDC3	9672	hgsc.bcm.edu	37	chr1	31347395	31347395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccggaacctctggcTcatcccggattgtggtcagg	7	9	11	14	2	4	0	3	0	1	0	5	2	5	2	3	5	1	1	3	5	1	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr1:31347395T>C	ENST00000339394.6	-	4	1085	c.911A>G	c.(910-912)gAg>gGg	p.E304G	SDC3_ENST00000471567.1_5'Flank|SDC3_ENST00000336798.7_Missense_Mutation_p.E246G	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	304					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)		AACCTCTGGCTCATCCCGGAT	0.592																																					p.E304G													.	.			0			c.A911G												109	109	109					1																	31347395		2203	4300	6503	SO:0001583	missense	9672	exon4			TCTGGCTCATCCC	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.911A>G	1.37:g.31347395T>C	ENSP00000344468:p.Glu304Gly		113	0	0		88	0.05	4	NM_014654	23	0	0	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186140	0.78789	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.34667	1.37;1.35	4.7	4.7	0.59300	.	0.092204	0.46145	D	0.000311	T	0.39172	0.1068	N	0.19112	0.55	0.42683	D	0.99355	D;D	0.59767	0.975;0.986	P;P	0.59595	0.766;0.86	T	0.27226	-1.0080	10	0.44086	T	0.13	-20.6923	12.8786	0.58003	0.0:0.0:0.0:1.0	.	304;246	O75056;D3DPN2	SDC3_HUMAN;.	G	246;304	ENSP00000338346:E246G;ENSP00000344468:E304G	ENSP00000338346:E246G	E	-	2	0	SDC3	31119982	0.997000	0.39634	0.997000	0.53966	0.786000	0.44442	3.602000	0.54066	1.986000	0.57962	0.460000	0.39030	GAG			0.592	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000102017.1		NM_014654		C	31347395	T	C	31347395	3	2	43	1	0	0	0	0	1	0	0	0	13976	1551	54	4	425	4	SDC3	1	31347395	Missense_Mutation	SNP	T	TCGA-2G-AAGZ-01A-11D-A42Y-10	24699734	31347395	217903226	3	3022											
C1orf113	79729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	36775175	36775175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctggtcccacggaaagtGgtatctcgggaatcaggtga	11	8	14	8	2	2	1	1	1	1	0	4	3	3	3	1	5	1	2	1	5	4	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr1:36775175G>A	ENST00000426732.2	+	9	690	c.405G>A	c.(403-405)gtG>gtA	p.V135V	SH3D21_ENST00000312808.4_5'UTR|SH3D21_ENST00000505871.1_Silent_p.V140V|SH3D21_ENST00000453908.2_Silent_p.V251V			A4FU49	SH321_HUMAN	SH3 domain containing 21	135						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CACGGAAAGTGGTATCTCGGG	0.522																																					p.V251V													.	.			0			c.G753A												118	107	111					1																	36775175		692	1591	2283	SO:0001819	synonymous_variant	79729	exon10			GAAAGTGGTATCT	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.405G>A	1.37:g.36775175G>A			60	0	0		65	0.15	10	NM_001162530	17	0.41	7	B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	ENST00000426732.2	37																																																																																						0.522	SH3D21-202	KNOWN	basic	protein_coding	protein_coding				NM_024676		A	36775175	G	A	36775175	2	1	43	1	0	0	0	0	0	0	0	1	1988	1335	47	3		3	C1orf113	1	36775175	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	5427780	36775175	212475446	4	3023											
HCN3	57657	broad.mit.edu;mdanderson.org	37	chr1	155258014	155258014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggtctccctgctgggTccccctccaggaggaggtgg	4	8	14	15	0	1	0	0	0	1	0	5	2	4	2	5	6	1	1	5	6	0	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr1:155258014T>C	ENST00000368358.3	+	8	2093	c.2085T>C	c.(2083-2085)ggT>ggC	p.G695G	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	695					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			CCCTGCTGGGTCCCCCTCCAG	0.726																																					p.G695G													.	HCN3	74		0			c.T2085C												8	10	9					1																	155258014		2160	4216	6376	SO:0001819	synonymous_variant	57657	exon8			GCTGGGTCCCCCT	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.2085T>C	1.37:g.155258014T>C			35	0.0285714286	1		32	0.09	3	NM_020897	0		0	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	CCDS1108.1																																																																																					0.726	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087388.1		NM_020897		C	155258014	T	C	155258014	2	2	43	1	0	0	0	0	0	0	0	1	7013	1654	58	4		4	HCN3	1	155258014	Silent	SNP	T	TCGA-2G-AAGZ-01A-11D-A42Y-10	118482839	155258014	93992607	5	3024											
GON4L	54856	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	155733205	155733205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcttcatccgtcatttcatCctctttctgcaggctttcca	5	17	5	14	1	5	0	3	0	2	0	8	0	8	0	3	1	2	3	3	1	0	4			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr1:155733205C>A	ENST00000368331.1	-	22	4672	c.4624G>T	c.(4624-4626)Gat>Tat	p.D1542Y	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.D1542Y|GON4L_ENST00000271883.5_Missense_Mutation_p.D1542Y	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1542	Glu-rich.				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)					GTCATTTCATCCTCTTTCTGC	0.502																																					p.D1542Y													.	.			0			c.G4624T												49	50	50					1																	155733205		1994	4185	6179	SO:0001583	missense	54856	exon22			TTTCATCCTCTTT	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.4624G>T	1.37:g.155733205C>A	ENSP00000357315:p.Asp1542Tyr		80	0	0		101	0.06	6	NM_001037533	47	0.28	13	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	19.75	3.885598	0.72410	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.15952	2.38;2.38;2.38	4.78	3.87	0.44632	.	0.161726	0.43260	D	0.000581	T	0.25044	0.0608	L	0.54323	1.7	0.44024	D	0.99674	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.994;0.997	T	0.02526	-1.1146	10	0.72032	D	0.01	.	12.577	0.56369	0.0:0.919:0.0:0.081	.	738;1542;1542	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	Y	1542	ENSP00000396117:D1542Y;ENSP00000357315:D1542Y;ENSP00000271883:D1542Y	ENSP00000271883:D1542Y	D	-	1	0	GON4L	153999829	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.199000	0.72112	1.242000	0.43836	0.561000	0.74099	GAT			0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_032292		A	155733205	C	A	155733205	3	1	43	1	0	0	0	0	1	0	0	0	6586	855	30	3	2142	3	GON4L	1	155733205	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	475191	155733205	93517416	6	3025											
PAPPA2	60676	broad.mit.edu	37	chr1	176671868	176671868	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtggagatgggaaggtgtCagagtgagtattttgtgtgt	8	15	17	1	0	1	3	1	1	0	2	1	5	1	4	0	3	0	1	0	3	2	4			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr1:176671868C>G	ENST00000367662.3	+	9	4526	c.3362C>G	c.(3361-3363)tCa>tGa	p.S1121*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1121					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGAAGGTGTCAGAGTGAGTA	0.507																																					p.S1121X													.	PAPPA2	665		0			c.C3362G												75	72	73					1																	176671868		1971	4159	6130	SO:0001587	stop_gained	60676	exon9			AGGTGTCAGAGTG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3362C>G	1.37:g.176671868C>G	ENSP00000356634:p.Ser1121*		52	0.0576923077	3		43	0.21	9	NM_020318	0		0	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	48	14.803902	0.99810	.	.	ENSG00000116183	ENST00000367662	.	.	.	5.26	0.793	0.18632	.	0.903166	0.09717	N	0.764915	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	3.039	14.0173	0.64531	0.6667:0.3333:0.0:0.0	.	.	.	.	X	1121	.	ENSP00000356634:S1121X	S	+	2	0	PAPPA2	174938491	0.002000	0.14202	0.000000	0.03702	0.342000	0.28953	0.440000	0.21592	-0.118000	0.11851	0.563000	0.77884	TCA			0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084763.1				G	176671868	C	G	176671868	4	3	43	1	0	0	0	0	0	1	0	0	11450	838	29	5	3445	5	PAPPA2	1	176671868	Nonsense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	20938663	176671868	72578753	7	3026											
OBSCN	84033	mdanderson.org	37	chr1	228559278	228559278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgccagggaggagcaGgccaccctcctggccaaagc	9	2	15	15	1	0	0	0	0	0	0	1	3	1	2	6	5	2	1	6	5	1	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr1:228559278G>T	ENST00000422127.1	+	94	20843	c.20799G>T	c.(20797-20799)caG>caT	p.Q6933H	OBSCN_ENST00000570156.2_Missense_Mutation_p.Q7890H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q4567H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6933					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)				GGGAGGAGCAGGCCACCCTCC	0.697																																					p.Q7890H													.	.			0			c.G23670T												9	15	13					1																	228559278		2055	4172	6227	SO:0001583	missense	84033	exon105			GGAGCAGGCCACC	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.20799G>T	1.37:g.228559278G>T	ENSP00000409493:p.Gln6933His		27	0	0		35	0.09	3	NM_001271223	2	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.664411|2.664411	0.47572|0.47572	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.63417	.|-0.04;-0.0	4.27|4.27	1.12|1.12	0.20585|0.20585	.|.	.|.	.|.	.|.	.|.	T|T	0.45875|0.45875	0.1364|0.1364	L|L	0.29908|0.29908	0.895|0.895	0.21220|0.21220	N|N	0.99976|0.99976	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.33420|0.33420	-0.9869|-0.9869	5|9	.|0.41790	.|T	.|0.15	.|.	6.8457|6.8457	0.23987|0.23987	0.1669:0.1435:0.6895:0.0|0.1669:0.1435:0.6895:0.0	.|.	.|6933	.|Q5VST9	.|OBSCN_HUMAN	C|H	1550|6933;4567	.|ENSP00000409493:Q6933H;ENSP00000355668:Q4567H	.|ENSP00000355668:Q4567H	G|Q	+|+	1|3	0|2	OBSCN|OBSCN	226625901|226625901	0.000000|0.000000	0.05858|0.05858	0.106000|0.106000	0.21319|0.21319	0.022000|0.022000	0.10575|0.10575	0.208000|0.208000	0.17415|0.17415	0.435000|0.435000	0.26365|0.26365	0.555000|0.555000	0.69702|0.69702	GGC|CAG			0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		T	228559278	G	T	228559278	3	4	43	1	0	0	0	0	1	0	0	0	10829	991	35	3	22379	3	OBSCN	1	228559278	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	51887410	228559278	20691343	8	3027											
RYR2	6262	mdanderson.org	37	chr1	237789089	237789089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaaaccagttgagagtGactccaaaaagtcctgtaag	17	7	9	8	0	0	3	0	2	0	2	2	4	2	3	3	0	1	2	3	0	5	2			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr1:237789089G>T	ENST00000366574.2	+	40	6468	c.6151G>T	c.(6151-6153)Gac>Tac	p.D2051Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D2049Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D2035Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2051	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)			AGTTGAGAGTGACTCCAAAAA	0.433																																					p.D2051Y													.	.			0			c.G6151T												82	79	80					1																	237789089		1929	4141	6070	SO:0001583	missense	6262	exon40			GAGAGTGACTCCA	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.6151G>T	1.37:g.237789089G>T	ENSP00000355533:p.Asp2051Tyr		60	0	0		46	0.07	3	NM_001035	0		0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043057	0.36085	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73575	-0.76;-0.76;-0.76	5.47	3.49	0.39957	.	0.180824	0.34291	U	0.004093	T	0.58409	0.2120	N	0.22421	0.69	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.58194	-0.7679	10	0.87932	D	0	.	8.3862	0.32501	0.0782:0.0:0.7684:0.1534	.	2051	Q92736	RYR2_HUMAN	Y	2051;2049;2035	ENSP00000355533:D2051Y;ENSP00000353174:D2049Y;ENSP00000443798:D2035Y	ENSP00000353174:D2049Y	D	+	1	0	RYR2	235855712	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	1.843000	0.39259	1.320000	0.45209	0.561000	0.74099	GAC			0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095402.2		NM_001035		T	237789089	G	T	237789089	3	4	43	1	0	0	0	0	1	0	0	0	13792	1290	45	3	6309	3	RYR2	1	237789089	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	9229811	237789089	11461532	9	3028											
TTC27	55622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	33012134	33012134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaactacatcctcaccaGcactgacgttggggaatttt	12	10	9	10	1	1	1	1	1	0	0	2	3	2	3	2	3	3	2	2	3	4	4			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr2:33012134G>A	ENST00000317907.4	+	16	2147	c.1916G>A	c.(1915-1917)aGc>aAc	p.S639N		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	639										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						ATCCTCACCAGCACTGACGTT	0.393																																					p.S639N													.	.			0			c.G1916A												101	98	99					2																	33012134		2203	4300	6503	SO:0001583	missense	55622	exon16			TCACCAGCACTGA	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.1916G>A	2.37:g.33012134G>A	ENSP00000313953:p.Ser639Asn		131	0	0		135	0.05	7	NM_017735	77	0.3	23	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863712	0.91511	.	.	ENSG00000018699	ENST00000317907	T	0.37411	1.2	4.84	4.84	0.62591	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.081135	0.85682	D	0.000000	T	0.51176	0.1659	M	0.61703	1.905	0.58432	D	0.999998	D	0.67145	0.996	P	0.56216	0.794	T	0.45249	-0.9274	10	0.28530	T	0.3	-9.2931	18.3386	0.90297	0.0:0.0:1.0:0.0	.	639	Q6P3X3	TTC27_HUMAN	N	639	ENSP00000313953:S639N	ENSP00000313953:S639N	S	+	2	0	TTC27	32865638	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	9.813000	0.99286	2.411000	0.81874	0.591000	0.81541	AGC			0.393	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325395.1		NM_017735		A	33012134	G	A	33012134	3	1	43	1	0	0	0	0	1	0	0	0	16719	971	34	2	1978	2	TTC27	2	33012134	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		33012134	210187239	10	3029											
HK2	3099	mdanderson.org	37	chr2	75113795	75113795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcactcaaccccggcaaGcagaggtaggcacccaactg	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	3	3	3	4	3	3	4	2			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr2:75113795G>T	ENST00000290573.2	+	15	2814	c.2214G>T	c.(2212-2214)aaG>aaT	p.K738N	HK2_ENST00000409174.1_Missense_Mutation_p.K710N	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	738	Catalytic.|Hexokinase type-2 2.				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						ACCCCGGCAAGCAGAGGTAGG	0.552																																					p.K738N													.	.			0			c.G2214T												59	61	60					2																	75113795		2203	4300	6503	SO:0001583	missense	3099	exon15			CGGCAAGCAGAGG		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.2214G>T	2.37:g.75113795G>T	ENSP00000290573:p.Lys738Asn		42	0	0		41	0.07	3	NM_000189	63	0	0	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641143	0.67244	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96554	-4.05;-4.05	5.49	0.204	0.15199	Hexokinase, C-terminal (1);	0.170278	0.64402	D	0.000007	D	0.97629	0.9223	M	0.87971	2.92	0.52099	D	0.999942	D	0.89917	1.0	D	0.83275	0.996	D	0.96330	0.9243	10	0.66056	D	0.02	-14.5611	9.1948	0.37222	0.4536:0.0:0.5464:0.0	.	738	P52789	HXK2_HUMAN	N	738;738;710	ENSP00000290573:K738N;ENSP00000387140:K710N	ENSP00000290573:K738N	K	+	3	2	HK2	74967303	0.064000	0.20934	0.997000	0.53966	0.996000	0.88848	-0.522000	0.06237	-0.018000	0.14079	0.655000	0.94253	AAG			0.552	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252238.2		NM_000189		T	75113795	G	T	75113795	3	4	43	1	0	0	0	0	1	0	0	0	7206	962	34	2	2272	2	HK2	2	75113795	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	42101661	75113795	168085578	11	3030											
CTNNA2	1496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	80772149	80772149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccaacaatgaagaagggGtgaaattagttcggatggca	14	9	12	6	1	1	3	0	2	1	1	3	4	1	4	1	4	1	2	1	4	6	2			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr2:80772149G>T	ENST00000402739.4	+	9	1338	c.1333G>T	c.(1333-1335)Gtg>Ttg	p.V445L	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V479L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V124L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V445L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V445L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V445L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V445L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	445					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGAAGAAGGGGTGAAATTAGT	0.453																																					p.V445L													.	.			0			c.G1333T												93	94	94					2																	80772149		1950	4176	6126	SO:0001583	missense	1496	exon10			GAAGGGGTGAAAT		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1333G>T	2.37:g.80772149G>T	ENSP00000384638:p.Val445Leu		78	0	0		76	0.11	8	NM_001164883	0		0	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	19.80	3.895067	0.72639	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	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	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000001	T	0.71492	0.3346	M	0.87758	2.905	0.80722	D	1	B;P;B;B	0.48694	0.226;0.914;0.286;0.286	B;P;B;B	0.53549	0.104;0.729;0.105;0.14	T	0.76745	-0.2846	9	.	.	.	.	18.3791	0.90444	0.0:0.0:1.0:0.0	.	77;445;445;445	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	L	445;445;479;445;445;445;124;110	ENSP00000418191:V445L;ENSP00000419295:V445L;ENSP00000355398:V479L;ENSP00000384638:V445L;ENSP00000444675:V445L;ENSP00000441705:V445L;ENSP00000341500:V124L;ENSP00000386587:V110L	.	V	+	1	0	CTNNA2	80625660	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.393000	0.81446	0.655000	0.94253	GTG			0.453	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000328511.4		NM_004389		T	80772149	G	T	80772149	3	4	43	1	0	0	0	0	1	0	0	0	4015	1261	44	3	1159	3	CTNNA2	2	80772149	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	5658354	80772149	162427224	12	3031											
PGAP1	80055	broad.mit.edu	37	chr2	197711758	197711758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccacaatgaagaaagaaGtctcacagatgcagaagaca	19	5	9	8	0	1	6	1	1	1	5	2	6	1	6	1	0	2	1	1	0	6	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr2:197711758G>T	ENST00000354764.4	-	22	2233	c.2119C>A	c.(2119-2121)Ctt>Att	p.L707I		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	707					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GAAGAAAGAAGTCTCACAGAT	0.383																																					p.L707I													.	PGAP1	84		0			c.C2119A												94	91	92					2																	197711758		2203	4300	6503	SO:0001583	missense	80055	exon22			AAAGAAGTCTCAC		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2119C>A	2.37:g.197711758G>T	ENSP00000346809:p.Leu707Ile		299	0	0		292	0.02	6	NM_024989	1	0	0	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	7.520	0.656448	0.14580	.	.	ENSG00000197121	ENST00000354764	.	.	.	4.82	2.98	0.34508	.	0.231621	0.37623	N	0.002004	T	0.25121	0.0610	N	0.08118	0	0.58432	D	0.999998	B	0.12013	0.005	B	0.09377	0.004	T	0.05115	-1.0905	9	0.13853	T	0.58	-4.6631	5.9773	0.19387	0.1485:0.0:0.6012:0.2503	.	707	Q75T13	PGAP1_HUMAN	I	707	.	ENSP00000346809:L707I	L	-	1	0	PGAP1	197420003	0.947000	0.32204	0.933000	0.37362	0.926000	0.56050	1.279000	0.33191	1.261000	0.44149	0.655000	0.94253	CTT			0.383	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256103.5		NM_024989		T	197711758	G	T	197711758	3	4	43	1	0	0	0	0	1	0	0	0	11794	1029	36	3	673	3	PGAP1	2	197711758	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	116939609	197711758	45487615	13	3032											
AOX1	316	broad.mit.edu	37	chr2	201485446	201485446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgtctggtgtgaagcatgCcacgggggaggccatctact	7	10	14	10	1	3	1	0	1	3	0	3	2	3	2	2	4	3	1	2	4	2	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr2:201485446C>T	ENST00000374700.2	+	17	2019	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	593					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)	GTGAAGCATGCCACGGGGGAG	0.448																																					p.A593V													.	AOX1	152		0			c.C1778T												123	106	111					2																	201485446		2203	4300	6503	SO:0001583	missense	316	exon17			AGCATGCCACGGG	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.1778C>T	2.37:g.201485446C>T	ENSP00000363832:p.Ala593Val		222	0	0		230	0.02	5	NM_001159	1	0	0	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344108	0.61073	.	.	ENSG00000138356	ENST00000374700	T	0.07216	3.21	5.19	5.19	0.71726	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (2);	0.053488	0.85682	D	0.000000	T	0.16128	0.0388	M	0.77616	2.38	0.80722	D	1	B	0.15141	0.012	B	0.18263	0.021	T	0.02505	-1.1149	10	0.40728	T	0.16	-23.5563	18.9025	0.92448	0.0:1.0:0.0:0.0	.	593	Q06278	ADO_HUMAN	V	593	ENSP00000363832:A593V	ENSP00000363832:A593V	A	+	2	0	AOX1	201193691	1.000000	0.71417	0.991000	0.47740	0.624000	0.37722	5.330000	0.65899	2.709000	0.92574	0.655000	0.94253	GCC			0.448	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335844.1		NM_001159		T	201485446	C	T	201485446	3	4	43	1	0	0	0	0	1	0	0	0	729	739	26	2	1844	2	AOX1	2	201485446	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	3773688	201485446	41713927	14	3033											
NEK10	152110	broad.mit.edu	37	chr3	27350472	27350472	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatagaacattagtatctcGggcaccaagtaaatttacta	16	11	6	8	1	1	1	0	0	1	1	2	1	1	1	1	1	2	3	1	1	10	7			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr3:27350472G>T	ENST00000429845.2	-	11	1023	c.661C>A	c.(661-663)Cga>Aga	p.R221R	NEK10_ENST00000341435.5_Silent_p.R221R			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	221					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						TTAGTATCTCGGGCACCAAGT	0.308																																					p.R221R													.	NEK10	271		0			c.C661A												57	52	53					3																	27350472		1567	3580	5147	SO:0001819	synonymous_variant	152110	exon11			TATCTCGGGCACC	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.661C>A	3.37:g.27350472G>T			379	0	0		463	0.01	4	NM_199347	0		0	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	ENST00000429845.2	37																																																																																						0.308	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000438156.1		NM_152534		T	27350472	G	T	27350472	2	4	43	1	0	0	0	0	0	0	0	1	10339	1124	39	1		1	NEK10	3	27350472	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		27350472	170671958	15	3034											
ARHGAP31	57514	broad.mit.edu	37	chr3	119120673	119120673	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttcctttttactaggaaaAgaaaccaagggaaatttcaa	16	12	7	6	0	1	1	1	0	0	1	2	3	2	3	2	2	2	1	2	2	8	6			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr3:119120673A>G	ENST00000264245.4	+	10	1606	c.1074A>G	c.(1072-1074)aaA>aaG	p.K358K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	358					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TACTAGGAAAAGAAACCAAGG	0.478																																					p.K358K	Pancreas(7;176 297 5394 51128 51241)												.	ARHGAP31	175		0			c.A1074G												22	25	24					3																	119120673		1921	4119	6040	SO:0001819	synonymous_variant	57514	exon10			AGGAAAAGAAACC		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1074A>G	3.37:g.119120673A>G			184	0	0		170	0.03	5	NM_020754	4	0	0	Q9ULL6	Silent	SNP	ENST00000264245.4	37	CCDS43135.1																																																																																					0.478	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354942.2				G	119120673	A	G	119120673	2	3	43	1	0	0	0	0	0	0	0	1	880	69	3	4		4	ARHGAP31	3	119120673	Silent	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10	91770201	119120673	78901757	16	3035											
CASR	846	mdanderson.org	37	chr3	121981253	121981253	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcaagaaagttgaggcGtggcaggtgcgtccttcact	10	9	13	9	2	2	2	2	1	0	1	3	3	3	2	1	3	1	2	1	3	2	2			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr3:121981253G>T	ENST00000490131.1	+	4	1743	c.1371G>T	c.(1369-1371)gcG>gcT	p.A457A	CASR_ENST00000296154.5_Silent_p.A457A|CASR_ENST00000498619.1_Silent_p.A457A	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	457					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AAGTTGAGGCGTGGCAGGTGC	0.468																																					p.A457A													.	.			0			c.G1371T												65	66	66					3																	121981253		2203	4300	6503	SO:0001819	synonymous_variant	846	exon4			TGAGGCGTGGCAG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1371G>T	3.37:g.121981253G>T			34	0	0		28	0.11	3	NM_001178065	0		0	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	CCDS3010.1																																																																																					0.468	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355761.1		NM_000388		T	121981253	G	T	121981253	2	4	43	1	0	0	0	0	0	0	0	1	2684	1132	40	1		1	CASR	3	121981253	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	2860580	121981253	76041177	17	3036											
IFT122	55764	mdanderson.org	37	chr3	129239065	129239065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgcttcagcatggctGctgcccctactgccgcaggt	4	10	13	14	1	1	0	1	0	0	0	1	0	1	0	3	3	6	6	3	3	1	2			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr3:129239065G>T	ENST00000348417.2	+	30	3760	c.3683G>T	c.(3682-3684)tGc>tTc	p.C1228F	IFT122_ENST00000349441.2_Missense_Mutation_p.C1118F|IFT122_ENST00000507564.1_Missense_Mutation_p.C1221F|IFT122_ENST00000440957.2_Missense_Mutation_p.C1019F|IFT122_ENST00000504021.1_Missense_Mutation_p.C1105F|IFT122_ENST00000347300.2_Missense_Mutation_p.C1169F|IFT122_ENST00000296266.3_Missense_Mutation_p.C1279F|IFT122_ENST00000431818.2_Missense_Mutation_p.C1078F	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1228					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAGCATGGCTGCTGCCCCTAC	0.602																																					p.C1279F													.	.			0			c.G3836T												85	68	74					3																	129239065		2203	4300	6503	SO:0001583	missense	55764	exon31			ATGGCTGCTGCCC	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3683G>T	3.37:g.129239065G>T	ENSP00000324005:p.Cys1228Phe		38	0	0		47	0.06	3	NM_052985	68	0	0	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254241	0.22965	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.60920	0.8;0.15;0.29;0.34;0.95;0.94;0.79;0.36	5.82	4.95	0.65309	.	0.085942	0.85682	D	0.000000	T	0.69655	0.3135	M	0.62723	1.935	0.80722	D	1	D;B;D;B;B;B;B;B;P;D	0.63046	0.958;0.156;0.992;0.416;0.105;0.173;0.044;0.074;0.93;0.958	P;B;D;B;B;B;B;B;P;P	0.74023	0.804;0.146;0.982;0.275;0.025;0.056;0.035;0.056;0.641;0.804	T	0.66496	-0.5909	10	0.10377	T	0.69	-14.4648	14.9208	0.70835	0.0686:0.0:0.9313:0.0	.	1019;554;1221;616;1105;1070;1118;1169;1228;1279	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	F	1169;1279;1221;1078;1105;1118;1228;1070;1019	ENSP00000323973:C1169F;ENSP00000296266:C1279F;ENSP00000425536:C1221F;ENSP00000410946:C1078F;ENSP00000422179:C1105F;ENSP00000324165:C1118F;ENSP00000324005:C1228F;ENSP00000401569:C1019F	ENSP00000296266:C1279F	C	+	2	0	IFT122	130721755	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.942000	0.87708	1.469000	0.48083	0.655000	0.94253	TGC			0.602	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000355852.1		NM_018262		T	129239065	G	T	129239065	3	4	43	1	0	0	0	0	1	0	0	0	7570	1319	46	2	3961	2	IFT122	3	129239065	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	7257812	129239065	68783365	18	3037											
LRRC66	339977	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr4	52861139	52861139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttctgcactggttccttGttagcaggagtgacatccag	8	13	11	9	0	1	1	0	1	1	0	3	3	3	2	2	2	2	4	2	2	1	4			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr4:52861139G>A	ENST00000343457.3	-	4	2055	c.2049C>T	c.(2047-2049)aaC>aaT	p.N683N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	683						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGGTTCCTTGTTAGCAGGAG	0.527																																					p.N683N													.	.			0			c.C2049T												86	83	84					4																	52861139		2012	4173	6185	SO:0001819	synonymous_variant	339977	exon4			TTCCTTGTTAGCA	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2049C>T	4.37:g.52861139G>A			80	0	0		80	0.09	7	NM_001024611	0		0		Silent	SNP	ENST00000343457.3	37	CCDS43229.1																																																																																					0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361473.1		NM_001024611		A	52861139	G	A	52861139	2	1	43	1	0	0	0	0	0	0	0	1	9034	1368	48	3		3	LRRC66	4	52861139	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		52861139	138293137	19	3038											
CNOT6L	246175	mdanderson.org	37	chr4	78678099	78678099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaatatcctgtgataaaGgattgcctaaagcagaagac	16	9	10	6	0	0	4	0	2	0	3	1	6	1	5	2	1	2	1	2	1	7	4			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr4:78678099G>T	ENST00000504123.1	-	5	537	c.407C>A	c.(406-408)cCt>cAt	p.P136H	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P136H|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	136	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CTGTGATAAAGGATTGCCTAA	0.338																																					p.P136H													.	.			0			c.C407A												66	61	62					4																	78678099		1813	4076	5889	SO:0001583	missense	246175	exon5			GATAAAGGATTGC	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.407C>A	4.37:g.78678099G>T	ENSP00000424896:p.Pro136His		56	0	0		49	0.06	3	NM_144571	0		0	Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.595102	0.86953	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	D	0.92586	0.7645	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.94574	0.7773	10	0.87932	D	0	-4.6895	17.4677	0.87638	0.0:0.0:1.0:0.0	.	136;136	B4E2S0;Q96LI5	.;CNO6L_HUMAN	H	136;136;143;136	ENSP00000424896:P136H;ENSP00000264903:P136H;ENSP00000425571:P143H;ENSP00000426269:P136H	ENSP00000264903:P136H	P	-	2	0	CNOT6L	78897123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.747000	0.91610	2.432000	0.82394	0.460000	0.39030	CCT			0.338	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000362515.1				T	78678099	G	T	78678099	3	4	43	1	0	0	0	0	1	0	0	0	3625	1000	35	3	1292	3	CNOT6L	4	78678099	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	25816960	78678099	112476177	20	3039											
CDS1	1040	broad.mit.edu;mdanderson.org	37	chr4	85560085	85560085	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccttttttagttgtctccTaaaaagacttgggaaggatt	10	15	9	7	0	1	1	0	0	1	1	2	3	1	3	2	2	0	1	2	2	5	7			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr4:85560085T>C	ENST00000295887.5	+	9	1242	c.819T>C	c.(817-819)ccT>ccC	p.P273P		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AGTTGTCTCCTAAAAAGACTT	0.274																																					p.P273P													.	CDS1	58		0			c.T819C												95	92	93					4																	85560085		2202	4297	6499	SO:0001819	synonymous_variant	1040	exon9			GTCTCCTAAAAAG	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.819T>C	4.37:g.85560085T>C			87	0	0		97	0.04	4	NM_001263	0		0	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000295887.5	37	CCDS3608.1																																																																																					0.274	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252817.2				C	85560085	T	C	85560085	2	2	43	1	0	0	0	0	0	0	0	1	3179	1509	53	4		4	CDS1	4	85560085	Silent	SNP	T	TCGA-2G-AAGZ-01A-11D-A42Y-10	6881986	85560085	105594191	21	3040											
DAB2	1601	bcgsc.ca;mdanderson.org	37	chr5	39376964	39376964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatctctttatccccaagtGggtctaaggcagtgaaggca	10	11	11	9	0	2	2	0	2	2	0	4	2	3	2	2	3	0	2	2	3	4	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr5:39376964G>T	ENST00000320816.6	-	12	2392	c.1925C>A	c.(1924-1926)cCa>cAa	p.P642Q	DAB2_ENST00000545653.1_Missense_Mutation_p.P621Q|DAB2_ENST00000339788.6_Missense_Mutation_p.P424Q|DAB2_ENST00000509337.1_Missense_Mutation_p.P621Q	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	642	Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ATCCCCAAGTGGGTCTAAGGC	0.557											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P642Q													.	DAB2	124		0			c.C1925A												60	66	64					5																	39376964		2203	4300	6503	SO:0001583	missense	1601	exon12			CCAAGTGGGTCTA	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1925C>A	5.37:g.39376964G>T	ENSP00000313391:p.Pro642Gln		130	0	0	885	82	0.06	5	NM_001343	20	0	0	A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426172	0.83667	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76575	-0.2909	10	0.87932	D	0	-9.1457	18.5286	0.90983	0.0:0.0:1.0:0.0	.	642;621	P98082;P98082-3	DAB2_HUMAN;.	Q	642;424;621;621	ENSP00000313391:P642Q;ENSP00000345508:P424Q;ENSP00000439919:P621Q;ENSP00000426245:P621Q	ENSP00000313391:P642Q	P	-	2	0	DAB2	39412721	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	9.244000	0.95423	2.366000	0.80165	0.655000	0.94253	CCA			0.557	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367014.1		NM_001343		T	39376964	G	T	39376964	3	4	43	1	0	0	0	0	1	0	0	0	4220	1348	47	3	399	3	DAB2	5	39376964	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		39376964	141538296	22	3041											
PCDHGB1	56104	broad.mit.edu	37	chr5	140729996	140729996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatctggggctcagtgtcCgggagttgccaactcgaaaa	10	8	14	9	2	2	0	1	0	1	0	4	3	3	2	2	4	2	2	2	4	3	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr5:140729996C>T	ENST00000523390.1	+	1	169	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGTGTCCGGGAGTTGCC	0.542											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R57W													.	PCDHGB1	198		0			c.C169T												69	69	69					5																	140729996		1897	4112	6009	SO:0001583	missense	0	exon1			AGTGTCCGGGAGT	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.169C>T	5.37:g.140729996C>T	ENSP00000429273:p.Arg57Trp		165	0	0	1658	149	0.03	4	NM_018922	1	0	0	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	11.29	1.593691	0.28445	.	.	ENSG00000254221	ENST00000523390	T	0.38560	1.13	5.52	4.65	0.58169	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.41719	0.1171	M	0.62209	1.925	0.09310	N	1	B;B	0.21821	0.061;0.059	B;B	0.23852	0.049;0.035	T	0.38308	-0.9667	9	0.56958	D	0.05	.	9.5078	0.39058	0.3814:0.4923:0.1263:0.0	.	57;57	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	W	57	ENSP00000429273:R57W	ENSP00000429273:R57W	R	+	1	2	PCDHGB1	140710180	0.000000	0.05858	0.448000	0.26945	0.944000	0.59088	0.245000	0.18142	1.454000	0.47793	0.563000	0.77884	CGG			0.542	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374740.1		NM_018922		T	140729996	C	T	140729996	3	4	43	1	0	0	0	0	1	0	0	0	11579	643	23	1	171	1	PCDHGB1	5	140729996	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	101353032	140729996	40185264	23	3042											
RUNX2	860	hgsc.bcm.edu;mdanderson.org	37	chr6	45390457	45390457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcagcagcaGcagcagcaacagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr6:45390457G>A	ENST00000371438.1	+	2	544	c.186G>A	c.(184-186)caG>caA	p.Q62Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.Q62Q|RUNX2_ENST00000465038.2_Silent_p.Q62Q|RUNX2_ENST00000352853.5_Silent_p.Q130Q|RUNX2_ENST00000359524.5_Silent_p.Q48Q|RUNX2_ENST00000371436.6_Silent_p.Q62Q|RUNX2_ENST00000541979.1_Silent_p.Q130Q|RUNX2_ENST00000371432.3_Silent_p.Q48Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	62	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcagcagcaac	0.736																																					p.Q62Q													.	.			0			c.G186A												12	19	17					6																	45390457		1471	3153	4624	SO:0001819	synonymous_variant	860	exon3			GCAGCAGCAGCAG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.186G>A	6.37:g.45390457G>A			45	0	0		48	0.17	8	NM_001024630	0		0	O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	CCDS43467.2																																																																																					0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040755.2		NM_004348		A	45390457	G	A	45390457	2	1	43	1	0	0	0	0	0	0	0	1	13771	962	34	2		2	RUNX2	6	45390457	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		45390457	125724610	24	3043											
C6orf167	253714	broad.mit.edu	37	chr6	97609923	97609923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattttaaaatgccagggaGgagtagttcaacttcataaa	15	11	9	6	0	2	0	2	0	0	0	2	2	2	2	1	2	2	3	1	2	6	6			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr6:97609923G>T	ENST00000275053.4	-	22	3605	c.3340C>A	c.(3340-3342)Ctc>Atc	p.L1114I	MMS22L_ENST00000369251.2_Missense_Mutation_p.L1074I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1114					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGCCAGGGAGGAGTAGTTCA	0.393																																					p.L1114I													.	MMS22L	102		0			c.C3340A												114	111	112					6																	97609923		2203	4300	6503	SO:0001583	missense	253714	exon22			CAGGGAGGAGTAG		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3340C>A	6.37:g.97609923G>T	ENSP00000275053:p.Leu1114Ile		151	0	0		109	0.03	3	NM_198468	6	0	0	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.955583	0.73902	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.36340	3.29;1.26	5.87	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	M	0.69823	2.125	0.46478	D	0.999061	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.55231	-0.8173	10	0.87932	D	0	-17.4786	15.8879	0.79264	0.0752:0.0:0.9248:0.0	.	1074;1114	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	I	1114;1074	ENSP00000275053:L1114I;ENSP00000358254:L1074I	ENSP00000275053:L1114I	L	-	1	0	MMS22L	97716644	1.000000	0.71417	0.986000	0.45419	0.885000	0.51271	4.737000	0.62066	2.785000	0.95823	0.650000	0.86243	CTC			0.393	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041573.3		NM_198468		T	97609923	G	T	97609923	3	4	43	1	0	0	0	0	1	0	0	0	2344	1000	35	3	407	3	C6orf167	6	97609923	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	52219466	97609923	73505144	25	3044											
EIF3B	8662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr7	2404052	2404052	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcctaagggcacctacCtggctacctttcatcaaaga	10	10	8	13	0	3	1	2	0	1	1	4	1	3	1	4	3	2	2	4	3	4	4			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr7:2404052C>T	ENST00000360876.4	+	6	1101	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	EIF3B_ENST00000397011.2_Silent_p.L349L	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGGCACCTACCTGGCTACCTT	0.468																																					p.L349L													.	.			0			c.C1045T												128	131	130					7																	2404052		2203	4300	6503	SO:0001819	synonymous_variant	8662	exon6			ACCTACCTGGCTA	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1045C>T	7.37:g.2404052C>T			111	0	0		100	0.04	4	NM_001037283	706	0.18	126		Silent	SNP	ENST00000360876.4	37	CCDS5332.1																																																																																					0.468	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207006.1				T	2404052	C	T	2404052	2	4	43	1	0	0	0	0	0	0	0	1	5018	680	24	3		3	EIF3B	7	2404052	Silent	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10		2404052	156734611	26	3045											
COBL	23242	broad.mit.edu;mdanderson.org	37	chr7	51095412	51095412	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgccatcctcaccttGcgtagtctgtccttccctcc	5	11	7	18	2	2	0	1	0	1	0	6	1	6	0	7	0	2	1	7	0	2	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr7:51095412G>C	ENST00000265136.7	-	10	3546	c.3381C>G	c.(3379-3381)cgC>cgG	p.R1127R	COBL_ENST00000395542.2_Silent_p.R1209R	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1127	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				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)					TCCTCACCTTGCGTAGTCTGT	0.567																																					p.R1127R	NSCLC(189;2119 2138 12223 30818 34679)												.	COBL	167		0			c.C3381G												89	77	81					7																	51095412		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon10			CACCTTGCGTAGT	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.3381C>G	7.37:g.51095412G>C			138	0	0		141	0.04	5	NM_015198	21	0.14	3	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1																																																																																					0.567	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000342682.1	rescued with RNA-seq	NM_015198		C	51095412	G	C	51095412	2	2	43	1	0	0	0	0	0	0	0	1	3655	1306	46	5		5	COBL	7	51095412	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	48691360	51095412	108043251	27	3046											
CACNA2D1	781	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	81693631	81693631	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactcacacatccaccagAataagcatgtctttaggaga	16	8	6	11	0	2	2	1	0	1	2	3	3	3	2	2	1	2	1	2	1	4	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr7:81693631A>T	ENST00000356253.5	-	9	1023	c.768T>A	c.(766-768)atT>atA	p.I256I	CACNA2D1_ENST00000356860.3_Silent_p.I256I|CACNA2D1_ENST00000423588.1_Silent_p.I256I			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	256	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	CATCCACCAGAATAAGCATGT	0.328																																					p.I256I													.	CACNA2D1	191		0			c.T768A												84	80	81					7																	81693631		2203	4299	6502	SO:0001819	synonymous_variant	781	exon9			CACCAGAATAAGC	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.768T>A	7.37:g.81693631A>T			381	0.0026246719	1		368	0.05	17	NM_000722	0		0	Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37																																																																																						0.328	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding						T	81693631	A	T	81693631	2	4	43	1	0	0	0	0	0	0	0	1	2550	242	9	5		5	CACNA2D1	7	81693631	Silent	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10	30598219	81693631	77445032	28	3047											
CAV1	857	ucsc.edu	37	chr7	116166628	116166628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagggcaacatctacaagcCcaacaacaaggccatggcag	16	3	9	13	0	1	0	0	0	1	0	1	0	1	0	2	3	5	2	2	3	6	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr7:116166628C>G	ENST00000341049.2	+	2	358	c.80C>G	c.(79-81)cCc>cGc	p.P27R	CAV1_ENST00000393468.1_5'UTR|CAV1_ENST00000393470.1_Missense_Mutation_p.P16R|CAV1_ENST00000393467.1_5'UTR|CAV1_ENST00000405348.1_5'UTR	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	27					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			ATCTACAAGCCCAACAACAAG	0.627											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P27R													.	CAV1	13		0			c.C80G												183	131	148					7																	116166628		2203	4300	6503	SO:0001583	missense	857	exon2			ACAAGCCCAACAA	AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"caveolin 1, caveolae protein, 22kD"	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.80C>G	7.37:g.116166628C>G	ENSP00000339191:p.Pro27Arg		115	0	0	1471	84	0.07	6	NM_001753	301	0.3	89	Q9UGP1|Q9UNG1|Q9UQH6	Missense_Mutation	SNP	ENST00000341049.2	37	CCDS5767.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364989	0.95877	.	.	ENSG00000105974	ENST00000341049;ENST00000393470	D;D	0.94046	-3.34;-3.31	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.96074	0.8721	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	P	0.62382	0.901	D	0.96227	0.9165	10	0.72032	D	0.01	-0.3198	19.0444	0.93013	0.0:1.0:0.0:0.0	.	27	Q03135	CAV1_HUMAN	R	27;16	ENSP00000339191:P27R;ENSP00000377113:P16R	ENSP00000339191:P27R	P	+	2	0	CAV1	115953864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.227000	0.78070	2.645000	0.89757	0.650000	0.86243	CCC			0.627	CAV1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000059734.4		NM_001753		G	116166628	C	G	116166628	3	3	43	1	0	0	0	0	1	0	0	0	2695	623	22	5	86	5	CAV1	7	116166628	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	34472997	116166628	42972035	29	3048											
GRM8	2918	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	126086148	126086148	+	Intron	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattaggaagtgctcccgctCttgaccatcggaaactctac	10	11	8	12	2	2	1	0	1	2	0	4	3	3	3	2	2	3	2	2	2	5	4			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr7:126086148C>G	ENST00000339582.2	-	10	3486				GRM8_ENST00000444921.2_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.K903N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGCTCCCGCTCTTGACCATCG	0.448										HNSCC(24;0.065)																											p.K903N													.	.			0			c.G2709C												150	141	144					7																	126086148		2203	4300	6503	SO:0001627	intron_variant	2918	exon10			CCCGCTCTTGACC		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2677+31G>C	7.37:g.126086148C>G			97	0	0		66	0.08	5	NM_001127323	0		0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080138	0.36662	.	.	ENSG00000179603	ENST00000358373	D	0.88896	-2.44	6.07	6.07	0.98685	.	.	.	.	.	T	0.80297	0.4597	N	0.08118	0	0.80722	D	1	B	0.22146	0.065	B	0.22152	0.038	T	0.74447	-0.3662	9	0.34782	T	0.22	.	17.8085	0.88608	0.0:1.0:0.0:0.0	.	903	O00222-2	.	N	903	ENSP00000351142:K903N	ENSP00000351142:K903N	K	-	3	2	GRM8	125873384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.054000	0.57434	2.890000	0.99128	0.585000	0.79938	AAG			0.448	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000059209.4				G	126086148	C	G	126086148	1	3	43	0	1	0	0	0	0	0	0	0	6818	912	32	5		5	GRM8	7	126086148	Intron	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	9919520	126086148	33052515	30	3049											
PYCRL	65263	broad.mit.edu;bcgsc.ca	37	chr8	144689164	144689175	+	In_Frame_Del	DEL	CCAAGATGTGTT	CCAAGATGTGTT	-																															caccccagcagccacggacaCcaagatgtgttcagtggtga																										TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	CCAAGATGTGTT	CCAAGATGTGTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr8:144689164_144689175delCCAAGATGTGTT	ENST00000220966.6	-	3	349_360	c.320_331delAACACATCTTGG	c.(319-333)gaacacatcttggtg>gtg	p.EHIL107del	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	95					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	GCCACGGACACCAAGATGTGTTCAGTGGTGAC	0.608																																					p.107_111del													.	PYCRL	14		0			c.320_331del																																									SO:0001651	inframe_deletion	65263	exon3			CGGACACCAAGAT	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.320_331delAACACATCTTGG	8.37:g.144689164_144689175delCCAAGATGTGTT	ENSP00000220966:p.Glu107_Leu110del		269	0	0		277	0.04	11	NM_023078	11	0	0	B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	In_Frame_Del	DEL	ENST00000220966.6	37	CCDS6407.2																																																																																					0.608	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347081.2		NM_023078		-	144689175	CCAAGATGTGTT	-	144689164	7	5	43	1	0	1	0	1	0	0	0	0	12880	507	18	0	545	0	PYCRL	8	144689164	In_Frame_Del	DEL	CCAAGATGTGTT	TCGA-2G-AAGZ-01A-11D-A42Y-10		144689164	1674858	31	3050											
OPLAH	26873	mdanderson.org	37	chr8	145114512	145114512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctcaccaggtcaaagAggtccccacgggcttgggtg	8	7	15	11	1	2	1	2	0	0	1	3	2	3	2	3	5	1	2	3	5	1	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr8:145114512A>G	ENST00000426825.1	-	3	434	c.353T>C	c.(352-354)cTc>cCc	p.L118P	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	118					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)			CAGGTCAAAGAGGTCCCCACG	0.632																																					p.L118P													.	.			0			c.T353C												36	44	41					8																	145114512		2181	4267	6448	SO:0001583	missense	26873	exon3			TCAAAGAGGTCCC	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.353T>C	8.37:g.145114512A>G	ENSP00000475943:p.Leu118Pro		55	0	0		53	0.06	3	NM_017570	4	0	0	A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		.	.	.	.	.	.	.	.	.	.	A	18.39	3.614396	0.66672	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.37	5.37	0.77165	Hydantoinaseoxoprolinase, N-terminal (1);	0.060746	0.64402	D	0.000002	T	0.78013	0.4217	.	.	.	0.44547	D	0.997500	D	0.60160	0.987	D	0.68483	0.958	D	0.84433	0.0578	7	0.87932	D	0	.	13.3064	0.60355	1.0:0.0:0.0:0.0	.	118	O14841	OPLA_HUMAN	P	118	.	ENSP00000412071:L118P	L	-	2	0	OPLAH	145186500	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.735000	0.62051	2.037000	0.60232	0.459000	0.35465	CTC			0.632	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_017570		G	145114512	A	G	145114512	3	3	43	1	0	0	0	0	1	0	0	0	10893	304	11	4	3615	4	OPLAH	8	145114512	Missense_Mutation	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10	425348	145114512	1249510	32	3051											
MFSD3	113655	mdanderson.org	37	chr8	145735026	145735026	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccgccgctgtggcggggTtgctgctgttgttgaacctg	2	12	16	11	3	0	1	0	1	0	0	0	1	0	1	3	3	4	6	3	3	1	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr8:145735026T>G	ENST00000301327.4	+	1	570	c.310T>G	c.(310-312)Ttg>Gtg	p.L104V	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	104	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	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)			TGTGGCGGGGTTGCTGCTGTT	0.731											OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L104V													.	.			0			c.T310G																																									SO:0001583	missense	113655	exon1			GCGGGGTTGCTGC		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.310T>G	8.37:g.145735026T>G	ENSP00000301327:p.Leu104Val		10	0.6	6	1696	14	0.43	6	NM_138431	11	0.45	5		Missense_Mutation	SNP	ENST00000301327.4	37	CCDS6431.1	.	.	.	.	.	.	.	.	.	.	T	9.469	1.095202	0.20471	.	.	ENSG00000167700	ENST00000301327	T	0.81078	-1.45	5.24	1.74	0.24563	Major facilitator superfamily domain, general substrate transporter (1);	0.439280	0.22611	N	0.057836	T	0.79828	0.4513	L	0.46819	1.47	0.27957	N	0.936909	D	0.57571	0.98	P	0.57244	0.816	T	0.69591	-0.5104	10	0.38643	T	0.18	-21.193	6.6076	0.22734	0.0:0.6675:0.1444:0.1881	.	104	Q96ES6	MFSD3_HUMAN	V	104	ENSP00000301327:L104V	ENSP00000301327:L104V	L	+	1	2	MFSD3	145705834	0.006000	0.16342	0.377000	0.26055	0.018000	0.09664	0.094000	0.15107	0.564000	0.29238	-0.337000	0.08149	TTG			0.731	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382478.2		NM_138431		G	145735026	T	G	145735026	3	3	43	1	0	0	0	0	1	0	0	0	9548	1722	60	4	312	4	MFSD3	8	145735026	Missense_Mutation	SNP	T	TCGA-2G-AAGZ-01A-11D-A42Y-10	620514	145735026	628996	33	3052											
PRSS3	5646	broad.mit.edu;bcgsc.ca	37	chr9	33797853	33797855	+	In_Frame_Del	DEL	ACA	ACA	-																															ccaggtgagactgggagagcAcaacatcaaagtcctggagg																								rs532977255		TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr9:33797853_33797855delACA	ENST00000361005.5	+	3	398_400	c.398_400delACA	c.(397-402)cacaac>cac	p.N134del	PRSS3_ENST00000379405.3_In_Frame_Del_p.N77del|PRSS3_ENST00000342836.4_In_Frame_Del_p.N91del|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_In_Frame_Del_p.N70del	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	134	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTGGGAGAGCACAACATCAAAGT	0.571																																					p.133_134del													.	PRSS3	79		0			c.398_400del																																									SO:0001651	inframe_deletion	5646	exon3			GAGAGCACAACAT		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.398_400delACA	9.37:g.33797856_33797858delACA	ENSP00000354280:p.Asn134del		142	0	0		101	0.1	10	NM_007343	0		0	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	In_Frame_Del	DEL	ENST00000361005.5	37	CCDS47958.1																																																																																					0.571	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000052121.1		NM_002771		-	33797855	ACA	-	33797853	7	5	43	1	0	1	0	1	0	0	0	0	12642	159	6	0	452	0	PRSS3	9	33797853	In_Frame_Del	DEL	ACA	TCGA-2G-AAGZ-01A-11D-A42Y-10		33797853	107415578	34	3053											
COL27A1	85301	broad.mit.edu	37	chr9	117037945	117037945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctgccacccagggggAcaggggagacccagggcctg	8	3	16	14	0	0	1	0	0	0	1	0	3	0	2	5	5	2	0	5	5	0	0	rs533652508		TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr9:117037945A>G	ENST00000356083.3	+	37	4005	c.3614A>G	c.(3613-3615)gAc>gGc	p.D1205G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1205	Collagen-like 10.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCCAGGGGGACAGGGGAGAC	0.622													A|||	1	0.000199681	8e-04	0	5008	,	,		18665	0		0	False		,,,				2504	0				p.D1205G													.	COL27A1	200		0			c.A3614G												21	18	19					9																	117037945		1907	3745	5652	SO:0001583	missense	85301	exon37			AGGGGGACAGGGG	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.3614A>G	9.37:g.117037945A>G	ENSP00000348385:p.Asp1205Gly		83	0.0120481928	1		105	0.05	5	NM_032888	20	0	0	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.734880	0.48939	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.53423	0.62	4.83	4.83	0.62350	.	.	.	.	.	T	0.59101	0.2169	L	0.49126	1.545	0.44652	D	0.997635	D	0.89917	1.0	D	0.87578	0.998	T	0.55166	-0.8183	9	0.27082	T	0.32	.	11.088	0.48099	1.0:0.0:0.0:0.0	.	1205	Q8IZC6	CORA1_HUMAN	G	1205	ENSP00000348385:D1205G	ENSP00000348385:D1205G	D	+	2	0	COL27A1	116077766	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.630000	0.67805	1.934000	0.56057	0.379000	0.24179	GAC			0.622	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053763.1		NM_032888		G	117037945	A	G	117037945	3	3	43	1	0	0	0	0	1	0	0	0	3687	275	10	4	3760	4	COL27A1	9	117037945	Missense_Mutation	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10	83240092	117037945	24175486	35	3054											
RAPGEF1	2889	mdanderson.org	37	chr9	134497191	134497191	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcactcaccagctgccGctgcttggggggtagggcgg	4	8	18	11	2	2	0	2	0	0	0	2	0	2	0	2	6	3	4	2	6	1	2			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr9:134497191G>T	ENST00000372189.3	-	11	1969	c.1846C>A	c.(1846-1848)Cgg>Agg	p.R616R	RAPGEF1_ENST00000372190.3_Silent_p.R634R|RAPGEF1_ENST00000372195.1_Silent_p.R633R	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	616					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)		ACCAGCTGCCGCTGCTTGGGG	0.612																																					p.R634R													.	.			0			c.C1900A												19	22	21					9																	134497191		1936	4130	6066	SO:0001819	synonymous_variant	2889	exon11			GCTGCCGCTGCTT	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.1846C>A	9.37:g.134497191G>T			63	0	0		55	0.05	3	NM_198679	32	0	0	Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	CCDS48047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.44|10.44	1.352029|1.352029	0.24512|0.24512	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000414781|ENST00000419442	.|.	.|.	.|.	5.57|5.57	2.26|2.26	0.28386|0.28386	.|.	.|.	.|.	.|.	.|.	T|T	0.67335|0.67335	0.2882|0.2882	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.65307|0.65307	-0.6200|-0.6200	4|4	.|.	.|.	.|.	.|.	13.6655|13.6655	0.62393|0.62393	0.0:0.0:0.4796:0.5204|0.0:0.0:0.4796:0.5204	.|.	.|.	.|.	.|.	E|R	12|74	.|.	.|.	A|S	-|-	2|3	0|2	RAPGEF1|RAPGEF1	133487012|133487012	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	1.878000|1.878000	0.39608|0.39608	0.637000|0.637000	0.30526|0.30526	0.561000|0.561000	0.74099|0.74099	GCG|AGC			0.612	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054759.2		NM_005312		T	134497191	G	T	134497191	2	4	43	1	0	0	0	0	0	0	0	1	13066	1086	38	1		1	RAPGEF1	9	134497191	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	17459246	134497191	6716240	36	3055											
CNNM1	26507	mdanderson.org	37	chr10	101089340	101089340	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaccctgcgcgccgccGaaggcaccagcttcctcctg	5	5	13	18	4	0	0	0	0	0	0	2	1	2	0	6	3	2	3	6	3	1	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr10:101089340G>T	ENST00000356713.4	+	1	485	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	CNNM1_ENST00000370534.4_5'Flank|CNNM1_ENST00000370528.3_Nonsense_Mutation_p.E66*|CNNM1_ENST00000446890.1_Nonsense_Mutation_p.E66*	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	66					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)		GCGCGCCGCCGAAGGCACCAG	0.746																																					p.E66X													CNNM1_ENST00000356713,right_upper_lobe,carcinoma,0,1	CNNM1_ENST00000356713	0	1	0			c.G196T												8	9	8					10																	101089340		1716	3773	5489	SO:0001587	stop_gained	26507	exon1			GCCGCCGAAGGCA	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.196G>T	10.37:g.101089340G>T	ENSP00000349147:p.Glu66*		22	0	0		21	0.14	3	NM_020348	0		0	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Nonsense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	g	35	5.557665	0.96514	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-8.2566	14.1994	0.65693	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000349147:E66X	E	+	1	0	CNNM1	101079330	1.000000	0.71417	0.967000	0.41034	0.961000	0.63080	7.139000	0.77314	1.873000	0.54277	0.457000	0.33378	GAA			0.746	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049792.2		NM_020348		T	101089340	G	T	101089340	4	4	43	1	0	0	0	0	0	1	0	0	3614	1059	37	1	198	1	CNNM1	10	101089340	Nonsense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		101089340	34445407	37	3056											
HPS6	79803	mdanderson.org	37	chr10	103826173	103826173	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaggcccgtgggggtcTgcagccctaggcacatttca	6	9	13	13	1	2	0	1	0	1	0	2	0	2	0	3	4	2	3	3	4	2	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr10:103826173T>C	ENST00000299238.5	+	1	1027	c.942T>C	c.(940-942)tcT>tcC	p.S314S		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	314					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CGTGGGGGTCTGCAGCCCTAG	0.637									Hermansky-Pudlak syndrome																												p.S314S													.	.			0			c.T942C												55	59	57					10																	103826173		2203	4300	6503	SO:0001819	synonymous_variant	79803	exon1	Familial Cancer Database	HPS, HPS1-8	GGGGTCTGCAGCC	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.942T>C	10.37:g.103826173T>C			37	0	0		45	0.07	3	NM_024747	22	0	0	Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	CCDS7527.1																																																																																					0.637	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050018.2		NM_024747		C	103826173	T	C	103826173	2	2	43	1	0	0	0	0	0	0	0	1	7358	1567	55	4		4	HPS6	10	103826173	Silent	SNP	T	TCGA-2G-AAGZ-01A-11D-A42Y-10	2736833	103826173	31708574	38	3057											
PPRC1	23082	mdanderson.org	37	chr10	103892852	103892852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgccggggacggagagaCggagtcgcgccgcccccgag	6	1	19	15	9	0	1	0	0	0	1	1	6	0	4	4	4	0	0	4	4	0	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr10:103892852C>T	ENST00000278070.2	+	1	66	c.27C>T	c.(25-27)gaC>gaT	p.D9D	PPRC1_ENST00000413464.2_Silent_p.D9D	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	9					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)		GACGGAGAGACGGAGTCGCGC	0.716																																					p.D9D													.	.			0			c.C27T												3	4	4					10																	103892852		1832	3656	5488	SO:0001819	synonymous_variant	23082	exon1			GAGAGACGGAGTC	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.27C>T	10.37:g.103892852C>T			22	0	0		19	0.16	3	NM_015062	7	0	0	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	CCDS7529.1																																																																																					0.716	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050021.1		NM_015062		T	103892852	C	T	103892852	2	4	43	1	0	0	0	0	0	0	0	1	12430	535	19	1		1	PPRC1	10	103892852	Silent	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	66679	103892852	31641895	39	3058											
FAM160A2	84067	mdanderson.org	37	chr11	6245294	6245294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgccatgtcaacacaCgggtcagcagatcctcgtgc	9	7	11	14	2	2	1	2	0	0	1	4	1	3	1	2	1	5	3	2	1	1	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr11:6245294C>T	ENST00000449352.2	-	3	586	c.323G>A	c.(322-324)cGt>cAt	p.R108H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R108H|FAM160A2_ENST00000265978.4_Missense_Mutation_p.R108H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	108					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTCAACACACGGGTCAGCAG	0.592																																					p.R108H													.	.			0			c.G323A												48	39	42					11																	6245294		2201	4296	6497	SO:0001583	missense	84067	exon3			AACACACGGGTCA		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.323G>A	11.37:g.6245294C>T	ENSP00000416918:p.Arg108His		81	0	0		75	0.05	4	NM_032127	12	0	0	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308430	0.81247	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.30448	1.53;1.53;1.53	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	L	0.60455	1.87	0.43246	D	0.995168	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.98;0.985;0.982	T	0.32903	-0.9889	10	0.41790	T	0.15	-9.3444	10.679	0.45802	0.0:0.9127:0.0:0.0873	.	108;108;108	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	108;33;108;108	ENSP00000416918:R108H;ENSP00000265978:R108H;ENSP00000431773:R108H	ENSP00000265978:R108H	R	-	2	0	FAM160A2	6201870	0.163000	0.22920	1.000000	0.80357	0.990000	0.78478	0.859000	0.27858	2.642000	0.89623	0.655000	0.94253	CGT			0.592	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000383759.1		NM_032127		T	6245294	C	T	6245294	3	4	43	1	0	0	0	0	1	0	0	0	5479	536	19	1	2677	1	FAM160A2	11	6245294	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10		6245294	128761222	40	3059											
HNRNPUL2	221092	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	62490079	62490079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagcacttacagcaaaGcagccaataacatcattctc	15	8	6	12	0	3	0	2	0	1	0	4	1	3	1	1	1	6	3	1	1	4	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr11:62490079G>A	ENST00000301785.5	-	6	1281	c.1089C>T	c.(1087-1089)tgC>tgT	p.C363C	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.C363C	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					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						TTACAGCAAAGCAGCCAATAA	0.453																																					p.C363C													HNRNPUL2,NS,carcinoma,-1,1	HNRNPUL2	-1	1	0			c.C1089T												112	103	106					11																	62490079		1943	4135	6078	SO:0001819	synonymous_variant	221092	exon6			AGCAAAGCAGCCA		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.1089C>T	11.37:g.62490079G>A			180	0	0		148	0.1	15	NM_001079559	121	0.24	29	Q8N3B3	Silent	SNP	ENST00000301785.5	37	CCDS41659.1																																																																																					0.453	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396208.2		XM_495877		A	62490079	G	A	62490079	2	1	43	1	0	0	0	0	0	0	0	1	7290	963	34	2		2	HNRNPUL2	11	62490079	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	56244785	62490079	72516437	41	3060											
C11orf68	83638	mdanderson.org	37	chr11	65685142	65685142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccagtacacccaagcGgtccgtgaagtcgtccgtgt	7	8	11	15	5	0	1	0	1	0	0	4	1	3	1	5	1	2	1	5	1	3	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr11:65685142G>A	ENST00000530188.1	-	1	689	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	DRAP1_ENST00000527119.1_5'Flank|DRAP1_ENST00000532933.1_5'Flank|DRAP1_ENST00000312515.2_5'Flank|C11orf68_ENST00000449692.3_Missense_Mutation_p.R223C|DRAP1_ENST00000376991.2_5'Flank|C11orf68_ENST00000438576.2_Missense_Mutation_p.R224C			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	182							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		ACACCCAAGCGGTCCGTGAAG	0.607																																					p.R224C													.	.			0			c.C670T												63	58	60					11																	65685142		2201	4296	6497	SO:0001583	missense	83638	exon2			CCAAGCGGTCCGT	AF073483	CCDS8122.2, CCDS44652.1	11q13.1	2012-08-09			ENSG00000175573	ENSG00000175573			28801	protein-coding gene	gene with protein product	"basophilic leukemia-expressed protein"					16511166	Standard	NM_031450		Approved	P5326, BLES03	uc001ogi.3	Q9H3H3	OTTHUMG00000157153	ENST00000530188.1:c.544C>T	11.37:g.65685142G>A	ENSP00000433914:p.Arg182Cys		68	0	0		55	0.05	3	NM_001135635	106	0	0	J3KQG9|Q9BT13	Missense_Mutation	SNP	ENST00000530188.1	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.198989	0.79015	.	.	ENSG00000175573	ENST00000438576;ENST00000449692;ENST00000530188	T;T;T	0.48201	0.82;0.82;0.82	4.72	3.8	0.43715	Translation Initiation factor eIF- 4e-like  domain (2);	0.133153	0.49916	D	0.000122	T	0.49677	0.1571	L	0.52573	1.65	0.50313	D	0.999861	D;D	0.71674	0.997;0.998	P;P	0.52424	0.572;0.698	T	0.51395	-0.8711	10	0.72032	D	0.01	-13.903	8.4033	0.32599	0.0:0.1698:0.6546:0.1756	.	223;182	Q9H3H3-2;Q9H3H3	.;CK068_HUMAN	C	224;223;182	ENSP00000398350:R224C;ENSP00000409681:R223C;ENSP00000433914:R182C	ENSP00000398350:R224C	R	-	1	0	C11orf68	65441718	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.766000	0.68843	1.112000	0.41740	0.462000	0.41574	CGC			0.607	C11orf68-003	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000391173.1		NM_031450		A	65685142	G	A	65685142	3	1	43	1	0	0	0	0	1	0	0	0	1660	1116	39	1	215	1	C11orf68	11	65685142	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	3195063	65685142	69321374	42	3061											
CST6	1474	mdanderson.org	37	chr11	65779678	65779678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagaaggcggcgcaggcgGccgtggccagctacaacatg	9	4	16	12	4	0	1	0	0	0	1	0	1	0	1	2	5	4	3	2	5	3	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr11:65779678G>A	ENST00000312134.2	+	1	367	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	55					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						GGCGCAGGCGGCCGTGGCCAG	0.701																																					p.A55T													.	.			0			c.G163A												11	10	10					11																	65779678		2006	4035	6041	SO:0001583	missense	1474	exon1			CAGGCGGCCGTGG	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.163G>A	11.37:g.65779678G>A	ENSP00000311313:p.Ala55Thr		42	0	0		40	0.08	3	NM_001323	0		0	Q540N7	Missense_Mutation	SNP	ENST00000312134.2	37	CCDS8126.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678175	0.47886	.	.	ENSG00000175315	ENST00000312134	T	0.29917	1.55	5.21	4.29	0.51040	Proteinase inhibitor I25, cystatin (2);	0.061508	0.64402	D	0.000006	T	0.53674	0.1811	M	0.82630	2.6	0.19575	N	0.999969	D	0.63046	0.992	P	0.62649	0.905	T	0.50882	-0.8775	10	0.51188	T	0.08	-19.936	11.8167	0.52216	0.0:0.177:0.823:0.0	.	55	Q15828	CYTM_HUMAN	T	55	ENSP00000311313:A55T	ENSP00000311313:A55T	A	+	1	0	CST6	65536254	0.803000	0.28956	0.130000	0.21974	0.007000	0.05969	3.314000	0.51943	1.182000	0.42928	0.655000	0.94253	GCC			0.701	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391348.1		NM_001323		A	65779678	G	A	65779678	3	1	43	1	0	0	0	0	1	0	0	0	3978	1203	42	2	165	2	CST6	11	65779678	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	94536	65779678	69226838	43	3062											
C11orf73	51501	broad.mit.edu;mdanderson.org	37	chr11	86013506	86013506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgccatgtttggctgcttgGtggcggggaggctggtgagg	3	11	20	7	2	0	1	0	1	0	0	1	2	0	2	1	8	1	4	1	8	0	2			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr11:86013506G>T	ENST00000278483.3	+	1	242	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	C11orf73_ENST00000533986.1_Missense_Mutation_p.V6L	NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73	6					cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)			kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TGGCTGCTTGGTGGCGGGGAG	0.647																																					p.V6L													.	C11orf73	9		0			c.G16T												29	23	25					11																	86013506		2185	4269	6454	SO:0001583	missense	51501	exon1			TGCTTGGTGGCGG	BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.16G>T	11.37:g.86013506G>T	ENSP00000278483:p.Val6Leu		53	0	0		58	0.07	4	NM_016401	162	0	0	Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	Missense_Mutation	SNP	ENST00000278483.3	37	CCDS8275.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460034	0.84317	.	.	ENSG00000149196	ENST00000533986;ENST00000278483	T;T	0.42513	0.97;0.97	4.98	4.98	0.66077	.	0.058227	0.64402	D	0.000002	T	0.51873	0.1700	M	0.66506	2.035	0.80722	D	1	B;P	0.39443	0.109;0.674	B;P	0.45428	0.177;0.48	T	0.48614	-0.9020	9	.	.	.	-9.9551	18.8064	0.92038	0.0:0.0:1.0:0.0	.	6;6	Q53FT3;E9PPG8	CK073_HUMAN;.	L	6	ENSP00000432699:V6L;ENSP00000278483:V6L	.	V	+	1	0	C11orf73	85691154	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.379000	0.79691	2.741000	0.93983	0.585000	0.79938	GTG			0.647	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393747.1		NM_016401		T	86013506	G	T	86013506	3	4	43	1	0	0	0	0	1	0	0	0	1663	1261	44	3	18	3	C11orf73	11	86013506	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	20233828	86013506	48993010	44	3063											
ZC3H12C	85463	mdanderson.org	37	chr11	110035632	110035632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcaggcccacgaagccctGaaaggcgtttctccttagac	9	9	9	14	2	2	2	1	1	2	1	4	3	2	2	3	2	1	1	3	2	3	2			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr11:110035632G>A	ENST00000278590.3	+	6	1873	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.E577K|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.E609K	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	608							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)		ACGAAGCCCTGAAAGGCGTTT	0.458																																					p.E608K													.	.			0			c.G1822A												51	49	50					11																	110035632		1973	4155	6128	SO:0001583	missense	85463	exon6			AGCCCTGAAAGGC		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.1822G>A	11.37:g.110035632G>A	ENSP00000278590:p.Glu608Lys		98	0	0		84	0.05	4	NM_033390	1	0	0	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726302	0.89298	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.38401	1.14;1.14;1.17	5.84	5.84	0.93424	.	0.113869	0.64402	D	0.000007	T	0.52058	0.1711	L	0.43152	1.355	0.46849	D	0.999224	D;D;D	0.67145	0.979;0.996;0.988	P;P;P	0.60415	0.525;0.874;0.76	T	0.48906	-0.8993	10	0.66056	D	0.02	-26.7913	20.1386	0.98045	0.0:0.0:1.0:0.0	.	609;608;608	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	K	608;609;577	ENSP00000278590:E608K;ENSP00000431821:E609K;ENSP00000413094:E577K	ENSP00000278590:E608K	E	+	1	0	ZC3H12C	109540842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.767000	0.95098	0.561000	0.74099	GAA			0.458	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000390491.1		NM_033390		A	110035632	G	A	110035632	3	1	43	1	0	0	0	0	1	0	0	0	17586	1291	45	3	1844	3	ZC3H12C	11	110035632	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	24022126	110035632	24970884	45	3064											
KCNJ5	3762	broad.mit.edu	37	chr11	128781827	128781827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgtgcctcatgttccGggtgggcgacctccgcaact	6	9	13	13	3	1	0	1	0	0	0	3	2	3	0	4	2	3	3	4	2	2	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr11:128781827G>T	ENST00000338350.4	+	3	1011	c.659G>T	c.(658-660)cGg>cTg	p.R220L	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R220L|KCNJ5_ENST00000529694.1_Missense_Mutation_p.R220L			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	220					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CTCATGTTCCGGGTGGGCGAC	0.587																																					p.R220L	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												KCNJ5,NS,carcinoma,+1,1	KCNJ5	560	1	0			c.G659T												100	100	100					11																	128781827		2201	4297	6498	SO:0001583	missense	3762	exon2			TGTTCCGGGTGGG	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.659G>T	11.37:g.128781827G>T	ENSP00000339960:p.Arg220Leu		137	0	0		116	0.03	4	NM_000890	7	0	0	B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937429	0.92458	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.97256	-4.31;-4.31;-4.31	5.46	5.46	0.80206	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.97682	4.055	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.99060	1.0830	10	0.87932	D	0	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	220	P48544	IRK5_HUMAN	L	220	ENSP00000433295:R220L;ENSP00000339960:R220L;ENSP00000434266:R220L	ENSP00000339960:R220L	R	+	2	0	KCNJ5	128287037	1.000000	0.71417	0.995000	0.50966	0.920000	0.55202	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	CGG			0.587	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000386239.1		NM_000890		T	128781827	G	T	128781827	3	4	43	1	0	0	0	0	1	0	0	0	8069	1116	39	1	661	1	KCNJ5	11	128781827	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	18746195	128781827	6224689	46	3065											
PRB3	5544	broad.mit.edu	37	chr12	11420652	11420652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctttcccggatgaggCgggggaccttgggactggtt	4	11	17	9	2	1	1	0	1	1	0	2	4	2	4	2	7	0	2	2	7	0	3	rs74786167	byFrequency	TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr12:11420652C>T	ENST00000279573.7	-	3	666	c.531G>A	c.(529-531)ccG>ccA	p.P177P	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Silent_p.P177P|PRB3_ENST00000538488.1_Silent_p.P156P			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	177	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCGGATGAGGCGGGGGACCTT	0.642																																					p.P177P													.	PRB3	84		0			c.G531A																																									SO:0001819	synonymous_variant	5544	exon3			ATGAGGCGGGGGA			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.531G>A	12.37:g.11420652C>T			251	0.0119521912	3		343	0.04	13	NM_006249	6	0	0	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000402119.5		NM_006249		T	11420652	C	T	11420652	2	4	43	1	0	0	0	0	0	0	0	1	12464	755	27	1		1	PRB3	12	11420652	Silent	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10		11420652	122431243	47	3066											
DDX11	1663	broad.mit.edu	37	chr12	31237980	31237980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggcccggaggctgagcgGctggagcagctggagtctgg	7	5	19	10	2	1	1	0	1	1	0	1	4	1	4	1	7	3	4	1	7	0	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr12:31237980G>A	ENST00000407793.2	+	5	809	c.558G>A	c.(556-558)cgG>cgA	p.R186R	DDX11_ENST00000542838.1_Silent_p.R186R|DDX11_ENST00000228264.6_Silent_p.R160R|DDX11_ENST00000350437.4_Silent_p.R186R|DDX11_ENST00000251758.5_Silent_p.R186R|DDX11_ENST00000545668.1_Silent_p.R186R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	186	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGGCTGAGCGGCTGGAGCAGC	0.602										Multiple Myeloma(12;0.14)																											p.R186R													.	DDX11	188		0			c.G558A												25	27	27					12																	31237980		2203	4299	6502	SO:0001819	synonymous_variant	1663	exon5			TGAGCGGCTGGAG	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.558G>A	12.37:g.31237980G>A			414	0.0048309179	2		531	0.01	6	NM_030653	60	0	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																					0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653		A	31237980	G	A	31237980	2	1	43	1	0	0	0	0	0	0	0	1	4345	1190	42	2		2	DDX11	12	31237980	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	19817328	31237980	102613915	48	3067											
SAMD4A	23034	mdanderson.org	37	chr14	55034821	55034821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcctcgaacgcgaggccAacagccccggtaagtgtgcg	9	5	13	14	6	0	0	0	0	0	0	2	2	1	0	4	2	4	1	4	2	3	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr14:55034821A>G	ENST00000554335.1	+	2	850	c.187A>G	c.(187-189)Aac>Gac	p.N63D	SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000392067.3_Missense_Mutation_p.N63D|SAMD4A_ENST00000251091.5_Missense_Mutation_p.N63D|SAMD4A_ENST00000357634.3_Missense_Mutation_p.N62D			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	63					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ACGCGAGGCCAACAGCCCCGG	0.736																																					p.N63D													.	.			0			c.A187G												8	9	9					14																	55034821		2170	4255	6425	SO:0001583	missense	23034	exon1			GAGGCCAACAGCC	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.187A>G	14.37:g.55034821A>G	ENSP00000452535:p.Asn63Asp		13	0	0		11	0.18	2	NM_001161576	5	0	0	A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238139	0.79800	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T	0.74106	-0.81;-0.81;-0.81	5.4	5.4	0.78164	.	0.126392	0.49305	D	0.000144	D	0.86222	0.5881	M	0.81497	2.545	0.33359	D	0.572065	D;D	0.63880	0.991;0.993	P;D	0.70935	0.801;0.971	D	0.91334	0.5092	10	0.72032	D	0.01	-18.6227	15.4128	0.74941	1.0:0.0:0.0:0.0	.	63;63	Q9UPU9-3;Q9UPU9	.;SMAG1_HUMAN	D	63;63;63;62;62	ENSP00000452535:N63D;ENSP00000375919:N63D;ENSP00000350261:N62D	ENSP00000306381:N63D	N	+	1	0	SAMD4A	54104571	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.062000	0.93920	2.047000	0.60756	0.443000	0.29094	AAC			0.736	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000411186.1		NM_015589		G	55034821	A	G	55034821	3	3	43	1	0	0	0	0	1	0	0	0	13844	130	5	4	186	4	SAMD4A	14	55034821	Missense_Mutation	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10		55034821	52314719	49	3068											
RBM25	58517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	73577750	73577750	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtggcaatgcaacacCtaacactcctggggatgagt	11	8	11	11	0	0	1	0	1	0	0	1	2	1	2	3	3	4	2	3	3	3	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr14:73577750C>G	ENST00000261973.7	+	15	2189	c.1904C>G	c.(1903-1905)cCt>cGt	p.P635R	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.P635R	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	635	Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AATGCAACACCTAACACTCCT	0.488																																					p.P635R													.	.			0			c.C1904G												99	87	92					14																	73577750		2203	4300	6503	SO:0001583	missense	58517	exon15			CAACACCTAACAC	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1904C>G	14.37:g.73577750C>G	ENSP00000261973:p.Pro635Arg		60	0	0		90	0.07	6	NM_021239	116	0.26	30	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020160	0.75275	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.12672	2.66;2.66	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.01496	-1.1340	10	0.27785	T	0.31	.	19.2568	0.93949	0.0:1.0:0.0:0.0	.	635	P49756	RBM25_HUMAN	R	635	ENSP00000261973:P635R;ENSP00000431150:P635R	ENSP00000261973:P635R	P	+	2	0	RBM25	72647503	1.000000	0.71417	0.990000	0.47175	0.886000	0.51366	7.487000	0.81328	2.554000	0.86153	0.467000	0.42956	CCT			0.488	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394966.1		XM_027330		G	73577750	C	G	73577750	3	3	43	1	0	0	0	0	1	0	0	0	13148	681	24	5	1958	5	RBM25	14	73577750	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	18542929	73577750	33771790	50	3069											
ATXN3	4287	hgsc.bcm.edu	37	chr14	92537354	92537355	+	In_Frame_Ins	INS	-	-	CTGCTGCTGCTGCTGCTG																															ctctgtcctgataggtccccINSctgctgctgctgctgctgct																								rs12895357	byFrequency	TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr14:92537354_92537355insCTGCTGCTGCTGCTGCTG	ENST00000532032.1	-	10	924_925	c.915_916insCAGCAGCAGCAGCAGCAG	c.(913-918)cagggg>cagCAGCAGCAGCAGCAGCAGggg	p.304_305insQQQQQQ	ATXN3_ENST00000340660.6_In_Frame_Ins_p.249_250insQQQQQQ|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000502250.1_In_Frame_Ins_p.125_126insQQQQQQ|ATXN3_ENST00000545170.1_In_Frame_Ins_p.313_314insQQQQQQ|ATXN3_ENST00000503767.1_In_Frame_Ins_p.289_290insQQQQQQ|ATXN3_ENST00000393287.5_In_Frame_Ins_p.304_305insQQQQQQ|ATXN3_ENST00000429774.2_In_Frame_Ins_p.297_298insQQQQQQ			P54252	ATX3_HUMAN	ataxin 3	304	Poly-Gln.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G306R(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GATAGGTCCCCctgctgctgct	0.446																																					p.G306delinsQQQQQQG	Esophageal Squamous(190;752 2094 29897 44875 49530)												ATXN3,NS,carcinoma,0,7	ATXN3	46		1	Substitution - Missense(1)	lung(1)	c.916_917insCAGCAGCAGCAGCAGCAG																																									SO:0001652	inframe_insertion	4287	exon10			GGTCCCCCTGCTG	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.898_915dupCAGCAGCAGCAGCAGCAG	14.37:g.92537354_92537355insCTGCTGCTGCTGCTGCTG	ENSP00000437157:p.Gln299_Gln304dup		79	0	0		59	0	0	NM_004993	107	0	0	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	In_Frame_Ins	INS	ENST00000532032.1	37																																																																																						0.446	ATXN3-015	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000388065.1		NM_004993		CTGCTGCTGCTGCTGCTG	92537355	-	CTGCTGCTGCTGCTGCTG	92537354	7	5	43	1	0	1	1	0	0	0	0	0	1213	623	22	0	177	0	ATXN3	14	92537354	In_Frame_Ins	INS	-	TCGA-2G-AAGZ-01A-11D-A42Y-10	18959604	92537354	14812186	51	3070											
HERC1	8925	hgsc.bcm.edu;broad.mit.edu	37	chr15	63904544	63904545	+	Frame_Shift_Del	DEL	CG	CG	-																															caaacctcatgaaaagcaccCgctcctcattggagaactct																										TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	CG	CG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr15:63904544_63904545delCG	ENST00000443617.2	-	77	14392_14393	c.14305_14306delCG	c.(14305-14307)cggfs	p.R4769fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4769	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						GAAAAGCACCCGCTCCTCATTG	0.495																																					p.4769_4769del													.	HERC1	624		0			c.14306_14307del																																									SO:0001589	frameshift_variant	8925	exon77			AGCACCCGCTCCT	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.14305_14306delCG	15.37:g.63904544_63904545delCG	ENSP00000390158:p.Arg4769fs		177	0	0		172	0.09	16	NM_003922	73	0	0	Q8IW65	Frame_Shift_Del	DEL	ENST00000443617.2	37	CCDS45277.1																																																																																					0.495	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418523.1		NM_003922		-	63904545	CG	-	63904544	7	5	43	1	0	1	0	1	0	0	0	0	7072	652	23	0	287	0	HERC1	15	63904544	Frame_Shift_Del	DEL	CG	TCGA-2G-AAGZ-01A-11D-A42Y-10		63904544	38626848	52	3071											
WHAMM	123720	mdanderson.org	37	chr15	83478717	83478717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccccgtccagctgggccgGcctgctctcggccgcggggc	1	6	15	19	5	1	0	0	0	1	0	4	0	3	0	6	5	2	2	6	5	0	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr15:83478717G>A	ENST00000286760.4	+	1	338	c.239G>A	c.(238-240)gGc>gAc	p.G80D		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	80	Mediates association with membranes. {ECO:0000269|PubMed:18614018}.				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						AGCTGGGCCGGCCTGCTCTCG	0.801																																					p.G80D													.	.			0			c.G239A												3	3	3					15																	83478717		633	1595	2228	SO:0001583	missense	123720	exon1			GGGCCGGCCTGCT	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.239G>A	15.37:g.83478717G>A	ENSP00000286760:p.Gly80Asp		12	0	0		10	0.2	2	NM_001080435	0		0	Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964264	0.74131	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.11495	2.77	4.35	4.35	0.52113	.	0.239997	0.41396	D	0.000881	T	0.35128	0.0921	M	0.79926	2.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	T	0.29579	-1.0007	10	0.87932	D	0	.	16.0126	0.80413	0.0:0.0:1.0:0.0	.	80	Q8TF30	WHAMM_HUMAN	D	80	ENSP00000286760:G80D	ENSP00000234505:G80D	G	+	2	0	WHAMM	81275771	1.000000	0.71417	0.997000	0.53966	0.205000	0.24178	3.266000	0.51569	2.253000	0.74438	0.585000	0.79938	GGC			0.801	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418463.1				A	83478717	G	A	83478717	3	1	43	1	0	0	0	0	1	0	0	0	17385	1203	42	2	241	2	WHAMM	15	83478717	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	19574173	83478717	19052675	53	3072											
PRSS33	260429	mdanderson.org	37	chr16	2835065	2835065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcccaggcagcacaatgcGctcagcctggggcacgtccg	8	5	12	16	3	1	0	1	0	0	0	3	0	3	0	3	3	3	4	3	3	1	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr16:2835065G>T	ENST00000293851.5	-	5	781	c.622C>A	c.(622-624)Cgc>Agc	p.R208S	PRSS33_ENST00000576886.1_3'UTR|PRSS33_ENST00000570702.1_Missense_Mutation_p.R208S	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						AGCACAATGCGCTCAGCCTGG	0.701																																					p.R208S	NSCLC(194;489 2153 16702 19171 27758)												.	.			0			c.C622A												7	10	9					16																	2835065		2059	4187	6246	SO:0001583	missense	260429	exon5			CAATGCGCTCAGC	AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"Serine peptidases / Serine peptidases"	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.622C>A	16.37:g.2835065G>T	ENSP00000293851:p.Arg208Ser		30	0	0		29	0.1	3	NM_152891	27	0	0	A6NNQ3|Q8N171	Missense_Mutation	SNP	ENST00000293851.5	37	CCDS42110.1	.	.	.	.	.	.	.	.	.	.	G	0.571	-0.841091	0.02692	.	.	ENSG00000103355	ENST00000293851	D	0.88354	-2.37	4.42	3.38	0.38709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.410909	0.20571	N	0.089738	T	0.72906	0.3519	N	0.02142	-0.665	0.09310	N	1	B	0.16396	0.017	B	0.27262	0.078	T	0.65360	-0.6187	10	0.46703	T	0.11	.	8.9556	0.35816	0.0:0.0:0.6389:0.3611	.	208	Q8NF86	PRS33_HUMAN	S	208	ENSP00000293851:R208S	ENSP00000293851:R208S	R	-	1	0	PRSS33	2775066	0.729000	0.28090	0.333000	0.25482	0.004000	0.04260	3.274000	0.51631	2.005000	0.58758	0.486000	0.48141	CGC			0.701	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436446.1		NM_152891		T	2835065	G	T	2835065	3	4	43	1	0	0	0	0	1	0	0	0	12643	1087	38	1	228	1	PRSS33	16	2835065	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		2835065	87519688	54	3073											
SMG1	23049	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	18844390	18844390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctgctcaataagaccGtccagttcatgcagcatact	10	11	9	11	1	3	1	2	0	1	1	4	1	4	1	2	1	4	4	2	1	3	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr16:18844390G>A	ENST00000446231.2	-	51	9076	c.8664C>T	c.(8662-8664)gaC>gaT	p.D2888D	SMG1_ENST00000389467.3_Silent_p.D2888D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2888					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						CAATAAGACCGTCCAGTTCAT	0.443																																					p.D2888D													.	SMG1	401		0			c.C8664T												192	183	186					16																	18844390		1928	4133	6061	SO:0001819	synonymous_variant	23049	exon51			AAGACCGTCCAGT	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.8664C>T	16.37:g.18844390G>A			196	0	0		205	0.03	7	NM_015092	4	0	0	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																					0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000391817.1		NM_015092		A	18844390	G	A	18844390	2	1	43	1	0	0	0	0	0	0	0	1	14818	1136	40	1		1	SMG1	16	18844390	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	16009325	18844390	71510363	55	3074											
CD19	930	broad.mit.edu	37	chr16	28944670	28944670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggggcctaagtcattGctgagcctagagctgaagga	11	7	13	10	0	1	3	1	2	0	1	1	4	1	4	3	3	3	2	3	3	4	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr16:28944670G>T	ENST00000324662.3	+	4	719	c.675G>T	c.(673-675)ttG>ttT	p.L225F	CD19_ENST00000538922.1_Missense_Mutation_p.L225F|CD19_ENST00000567541.1_Missense_Mutation_p.L225F			P15391	CD19_HUMAN	CD19 molecule	225	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|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)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CTAAGTCATTGCTGAGCCTAG	0.617																																					p.L225F													.	CD19	65		0			c.G675T												67	66	66					16																	28944670		2197	4300	6497	SO:0001583	missense	930	exon4			GTCATTGCTGAGC		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.675G>T	16.37:g.28944670G>T	ENSP00000313419:p.Leu225Phe		114	0	0		109	0.04	4	NM_001178098	1	0	0	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986891	0.53934	.	.	ENSG00000177455	ENST00000538922;ENST00000324662;ENST00000537306	T;T	0.56611	0.45;0.45	3.73	1.5	0.22942	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.266531	0.18084	N	0.152220	T	0.57519	0.2059	M	0.62723	1.935	0.23016	N	0.998428	D;D	0.61080	0.989;0.982	P;P	0.58820	0.846;0.706	T	0.43829	-0.9367	10	0.49607	T	0.09	-0.3095	4.1196	0.10099	0.1422:0.2446:0.6132:0.0	.	225;225	F5H635;P15391	.;CD19_HUMAN	F	225;225;74	ENSP00000437940:L225F;ENSP00000313419:L225F	ENSP00000313419:L225F	L	+	3	2	CD19	28852171	1.000000	0.71417	0.206000	0.23566	0.065000	0.16274	2.002000	0.40835	0.874000	0.35823	0.313000	0.20887	TTG			0.617	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000214152.2				T	28944670	G	T	28944670	3	4	43	1	0	0	0	0	1	0	0	0	2975	1310	46	2	689	2	CD19	16	28944670	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	10100280	28944670	61410083	56	3075											
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	30734457	30734457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctggccggctacccacaCctactctgggtactgctcga	6	8	9	18	2	1	0	0	0	1	0	2	1	1	0	5	3	4	3	5	3	3	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr16:30734457C>G	ENST00000262518.4	+	24	4451	c.4066C>G	c.(4066-4068)Cct>Gct	p.P1356A	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1198A|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1294A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1356	Pro-rich.				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)			GCTACCCACACCTACTCTGGG	0.622																																					p.P1356A													.	.			0			c.C4066G												92	89	90					16																	30734457		2197	4300	6497	SO:0001583	missense	10847	exon24			CCCACACCTACTC	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.4066C>G	16.37:g.30734457C>G	ENSP00000262518:p.Pro1356Ala		120	0	0		129	0.07	9	NM_006662	9	0.11	1	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083397	0.36758	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91894	-2.93;-2.81;-2.83	5.83	3.89	0.44902	.	0.000000	0.56097	D	0.000035	D	0.83991	0.5374	N	0.19112	0.55	0.23956	N	0.996353	B;B;B	0.30914	0.144;0.3;0.089	B;B;B	0.26094	0.066;0.066;0.03	T	0.76179	-0.3054	10	0.66056	D	0.02	-5.1549	9.8677	0.41154	0.0:0.8409:0.0:0.1591	.	1198;1294;1356	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	A	1356;1294;1198	ENSP00000262518:P1356A;ENSP00000378499:P1294A;ENSP00000343042:P1198A	ENSP00000262518:P1356A	P	+	1	0	SRCAP	30641958	0.950000	0.32346	1.000000	0.80357	0.923000	0.55619	2.585000	0.46111	0.826000	0.34661	0.655000	0.94253	CCT			0.622	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255523.1		NM_006662		G	30734457	C	G	30734457	3	3	43	1	0	0	0	0	1	0	0	0	15158	507	18	5	4152	5	SRCAP	16	30734457	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	1789787	30734457	59620296	57	3076											
FBXL19	54620	mdanderson.org	37	chr16	30953750	30953750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctctctgtctctgccctggGctcagccccactgccagccc	3	9	9	20	0	3	0	1	0	2	0	5	0	3	0	5	1	4	2	5	1	0	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr16:30953750G>A	ENST00000380310.2	+	9	1738	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D	FBXL19_ENST00000471231.2_Missense_Mutation_p.G215D|FBXL19_ENST00000562319.1_Missense_Mutation_p.G507D|FBXL19_ENST00000565690.1_Missense_Mutation_p.G391D|FBXL19_ENST00000338343.4_Missense_Mutation_p.G507D	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	527					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCTGCCCTGGGCTCAGCCCCA	0.652											OREG0023741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G527D													.	.			0			c.G1580A												15	17	17					16																	30953750		2048	4196	6244	SO:0001583	missense	54620	exon9			CCCTGGGCTCAGC	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1580G>A	16.37:g.30953750G>A	ENSP00000369666:p.Gly527Asp		50	0	0	821	44	0.07	3	NM_001099784	62	0	0	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161929	0.78226	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.26660	1.72;1.72	4.49	4.49	0.54785	.	0.125937	0.53938	D	0.000054	T	0.19886	0.0478	N	0.24115	0.695	0.49213	D	0.999767	B;P	0.42518	0.293;0.782	B;B	0.40534	0.306;0.332	T	0.02942	-1.1091	10	0.30854	T	0.27	-16.5884	16.4668	0.84081	0.0:0.0:1.0:0.0	.	527;484	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	D	507;527	ENSP00000339712:G507D;ENSP00000369666:G527D	ENSP00000339712:G507D	G	+	2	0	FBXL19	30861251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.597000	0.98273	2.515000	0.84797	0.655000	0.94253	GGC			0.652	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_019085		A	30953750	G	A	30953750	3	1	43	1	0	0	0	0	1	0	0	0	5728	1203	42	2	1614	2	FBXL19	16	30953750	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	219293	30953750	59401003	58	3077											
CES2	8824	hgsc.bcm.edu;broad.mit.edu	37	chr16	66977848	66977848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggctctgaaggcccacAggctccagttctggaagaag	9	6	14	12	1	2	2	0	1	2	1	3	3	3	3	3	4	0	3	3	4	3	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr16:66977848A>G	ENST00000317091.4	+	12	2776	c.1792A>G	c.(1792-1794)Agg>Ggg	p.R598G	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.R582G	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	534					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	GAAGGCCCACAGGCTCCAGTT	0.627																																					p.R598G	Ovarian(70;1230 1691 37888 38351)												.	.			0			c.A1792G												24	25	25					16																	66977848		2200	4300	6500	SO:0001583	missense	8824	exon12			GCCCACAGGCTCC	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"Carboxylesterases"	1864	protein-coding gene	gene with protein product		605278	"carboxylesterase 2 (intestine, liver)"			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1792A>G	16.37:g.66977848A>G	ENSP00000317842:p.Arg598Gly		104	0	0		98	0.04	4	NM_003869	42	0	0	A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939962	0.73557	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.67523	-0.27;-0.27	4.98	3.85	0.44370	Carboxylesterase, type B (1);	0.285457	0.25511	N	0.030180	T	0.76976	0.4063	M	0.78223	2.4	0.09310	N	1	P;P	0.49559	0.925;0.925	P;P	0.57776	0.827;0.827	T	0.68899	-0.5287	10	0.87932	D	0	.	9.9772	0.41791	0.8294:0.1706:0.0:0.0	.	534;598	O00748;A8K367	EST2_HUMAN;.	G	582;598	ENSP00000394452:R582G;ENSP00000317842:R598G	ENSP00000317842:R598G	R	+	1	2	CES2	65535349	0.154000	0.22792	0.900000	0.35374	0.961000	0.63080	2.154000	0.42291	0.874000	0.35823	0.529000	0.55759	AGG			0.627	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268838.2		NM_003869		G	66977848	A	G	66977848	3	3	43	1	0	0	0	0	1	0	0	0	3272	179	7	4	1838	4	CES2	16	66977848	Missense_Mutation	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10	36024098	66977848	23376905	59	3078											
KRT37	8688	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	39578411	39578411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcactgcagctcctcGgagcaggacatggcctgcag	8	6	14	13	1	0	0	0	0	0	0	2	2	1	2	2	4	5	6	2	4	0	0	rs147477673		TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr17:39578411G>A	ENST00000225550.3	-	5	929	c.930C>T	c.(928-930)tcC>tcT	p.S310S	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	310	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCAGCTCCTCGGAGCAGGACA	0.612																																					p.S310S													.	KRT37	61		0			c.C930T							G		0,4406		0,0,2203	127	96	107		930	-9.1	0.3	17	dbSNP_134	107	1,8599		0,1,4299	no	coding-synonymous	KRT37	NM_003770.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		310/450	39578411	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8688	exon5			CTCCTCGGAGCAG	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.930C>T	17.37:g.39578411G>A			116	0.0086206897	1		136	0.08	11	NM_003770	0		0		Silent	SNP	ENST00000225550.3	37	CCDS32653.1																																																																																					0.612	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257714.2		NM_003770		A	39578411	G	A	39578411	2	1	43	1	0	0	0	0	0	0	0	1	8489	1103	39	1		1	KRT37	17	39578411	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		39578411	41616799	60	3079											
AARSD1	80755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	41108298	41108298	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgttaacaacccgaaTgggcccagcatgatcatcag	12	8	9	12	2	2	1	2	1	0	0	3	3	2	1	2	1	3	2	2	1	3	1	rs199585384		TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr17:41108298T>G	ENST00000427569.2	-	6	621	c.586A>C	c.(586-588)Att>Ctt	p.I196L	AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.I370L|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.I370L|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.I279L|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.I309L	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	196					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACAACCCGAATGGGCCCAGCA	0.542																																					p.I370L													.	.			0			c.A1108C												126	115	118					17																	41108298		2203	4300	6503	SO:0001583	missense	100885850	exon11			CCCGAATGGGCCC	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.586A>C	17.37:g.41108298T>G	ENSP00000400870:p.Ile196Leu		118	0	0		112	0.04	5	NM_001136042	236	0.25	60	B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	CCDS58552.1	.	.	.	.	.	.	.	.	.	.	T	8.089	0.773996	0.16051	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103;ENST00000423601	T;T	0.46819	0.86;0.86	5.51	-2.12	0.07165	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.270121	0.35805	N	0.002970	T	0.37652	0.1011	L	0.35487	1.065	0.23238	N	0.998067	B;P;B;B;B	0.34546	0.103;0.456;0.248;0.248;0.187	B;B;B;B;B	0.37346	0.104;0.247;0.208;0.247;0.126	T	0.32322	-0.9911	9	0.59425	D	0.04	-1.6764	15.3289	0.74190	0.0:0.5774:0.0:0.4226	.	309;370;279;327;196	Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.;.;.;.;AASD1_HUMAN	L	309;370;370;196;279;78	ENSP00000386621:I370L;ENSP00000409924:I370L	ENSP00000353355:I309L	I	-	1	0	AARSD1	38361824	0.997000	0.39634	0.521000	0.27850	0.232000	0.25224	1.171000	0.31896	-1.248000	0.02503	-1.477000	0.00996	ATT			0.542	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467729.1		NM_001261434		G	41108298	T	G	41108298	3	3	43	1	0	0	0	0	1	0	0	0	21	1464	51	4	680	4	AARSD1	17	41108298	Missense_Mutation	SNP	T	TCGA-2G-AAGZ-01A-11D-A42Y-10	1529887	41108298	40086912	61	3080											
COG1	9382	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	71204453	71204453	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctctacatccaatggcagGttgtccccccggcacgctcc	6	10	8	17	2	1	0	0	0	1	0	5	0	4	0	5	3	1	4	5	3	2	3			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr17:71204453G>T	ENST00000299886.4	+	14	2886	c.2806G>T	c.(2806-2808)Gtt>Ttt	p.V936F	FAM104A_ENST00000583178.1_5'Flank|FAM104A_ENST00000405159.3_3'UTR|FAM104A_ENST00000403627.3_3'UTR	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	936					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CCAATGGCAGGTTGTCCCCCC	0.592																																					p.V936F													.	.			0			c.G2806T												94	77	83					17																	71204453		2203	4300	6503	SO:0001630	splice_region_variant	9382	exon14			TGGCAGGTTGTCC		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2806-1G>T	17.37:g.71204453G>T			77	0	0		65	0.11	7	NM_018714	178	0.18	32	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717596	0.68844	.	.	ENSG00000166685	ENST00000299886	T	0.24723	1.84	6.17	6.17	0.99709	.	0.874983	0.10235	N	0.699193	T	0.32941	0.0846	L	0.56769	1.78	0.80722	D	1	P	0.39717	0.684	B	0.38106	0.265	T	0.09684	-1.0663	9	.	.	.	-4.7325	18.0353	0.89301	0.0:0.0:1.0:0.0	.	936	Q8WTW3	COG1_HUMAN	F	936	ENSP00000299886:V936F	.	V	+	1	0	COG1	68716048	1.000000	0.71417	0.971000	0.41717	0.937000	0.57800	5.745000	0.68672	2.941000	0.99782	0.655000	0.94253	GTT			0.592	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441638.1			Missense_Mutation	T	71204453	G	T	71204453	5	4	43	1	0	0	0	0	0	0	1	0	3659	1275	44	3	2860	3	COG1	17	71204453	Splice_Site	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	30096155	71204453	9990757	62	3081											
ZNF236	7776	mdanderson.org	37	chr18	74580747	74580747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaacccggcagcatgcctGcaaggcctgcaagaaagagt	12	5	13	11	1	0	2	0	0	0	2	0	3	0	3	3	3	5	4	3	3	4	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr18:74580747G>A	ENST00000253159.8	+	4	662	c.464G>A	c.(463-465)tGc>tAc	p.C155Y	ZNF236_ENST00000320610.9_Missense_Mutation_p.C157Y|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	155					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)		CAGCATGCCTGCAAGGCCTGC	0.527																																					p.C155Y													.	.			0			c.G464A												95	100	98					18																	74580747		2000	4187	6187	SO:0001583	missense	7776	exon4			ATGCCTGCAAGGC	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.464G>A	18.37:g.74580747G>A	ENSP00000253159:p.Cys155Tyr		33	0	0		33	0.09	3	NM_007345	1	0	0	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878253	0.72294	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	D;D	0.99974	-10.2;-10.2	5.17	5.17	0.71159	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	M	0.87900	2.915	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95710	0.8757	10	0.87932	D	0	.	18.6623	0.91475	0.0:0.0:1.0:0.0	.	155;155	Q9NWI2;Q9UL36	.;ZN236_HUMAN	Y	155	ENSP00000253159:C155Y;ENSP00000444524:C155Y	ENSP00000253159:C155Y	C	+	2	0	ZNF236	72709735	1.000000	0.71417	0.955000	0.39395	0.456000	0.32438	9.496000	0.97967	2.394000	0.81467	0.563000	0.77884	TGC			0.527	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000445776.1				A	74580747	G	A	74580747	3	1	43	1	0	0	0	0	1	0	0	0	17812	1319	46	2	478	2	ZNF236	18	74580747	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10		74580747	3496501	63	3082											
HNRNPM	4670	mdanderson.org	37	chr19	8550553	8550553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgaccgcctcgggggtgCcggcatggagcgcatgggcg	5	6	18	12	5	0	1	0	1	0	0	1	2	0	2	3	5	2	2	3	5	0	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr19:8550553C>T	ENST00000325495.4	+	14	1282	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A375V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	414	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CTCGGGGGTGCCGGCATGGAG	0.667																																					p.A414V													.	.			0			c.C1241T												91	99	96					19																	8550553		2203	4300	6503	SO:0001583	missense	4670	exon14			GGGGTGCCGGCAT	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1241C>T	19.37:g.8550553C>T	ENSP00000325376:p.Ala414Val		27	0	0		13	0.23	3	NM_005968	509	0	1	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085340	0.55861	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.15139	2.45;2.77	5.76	5.76	0.90799	.	0.215268	0.49305	D	0.000154	T	0.23572	0.0570	L	0.47716	1.5	0.44611	D	0.99758	P;B;P;P	0.47545	0.799;0.18;0.897;0.704	B;B;P;B	0.44946	0.252;0.035;0.465;0.079	T	0.00322	-1.1818	10	0.54805	T	0.06	.	18.534	0.91002	0.0:1.0:0.0:0.0	.	254;414;375;299	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	414;375;299	ENSP00000325376:A414V;ENSP00000325732:A375V	ENSP00000325376:A414V	A	+	2	0	HNRNPM	8456553	0.995000	0.38212	0.974000	0.42286	0.591000	0.36615	5.329000	0.65892	2.724000	0.93272	0.491000	0.48974	GCC			0.667	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000460894.1				T	8550553	C	T	8550553	3	4	43	1	0	0	0	0	1	0	0	0	7286	739	26	2	1295	2	HNRNPM	19	8550553	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10		8550553	50578430	64	3083											
LRP3	4037	mdanderson.org	37	chr19	33696438	33696438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccccgacctggcgtgCggccggcggctgggcagctt	2	6	18	15	5	0	0	0	0	0	0	0	1	0	0	4	6	3	4	4	6	0	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr19:33696438C>T	ENST00000253193.7	+	5	964	c.762C>T	c.(760-762)tgC>tgT	p.C254C	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	254	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACCTGGCGTGCGGCCGGCGGC	0.731																																					p.C254C													.	.			0			c.C762T												5	6	6					19																	33696438		1668	3561	5229	SO:0001819	synonymous_variant	4037	exon5			GGCGTGCGGCCGG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.762C>T	19.37:g.33696438C>T			33	0	0		31	0.06	2	NM_002333	17	0	0	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																					0.731	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450842.4				T	33696438	C	T	33696438	2	4	43	1	0	0	0	0	0	0	0	1	8974	776	27	1		1	LRP3	19	33696438	Silent	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	25145885	33696438	25432545	65	3084											
ZNF880	400713	hgsc.bcm.edu	37	chr19	52887146	52887146	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgccggaaacaagtctcttAaaaatcaacttggattaacc	16	10	6	9	1	2	0	1	0	1	0	3	2	2	2	2	2	4	0	2	2	7	3	rs398101268|rs34470614		TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr19:52887146A>T	ENST00000422689.2	+	4	328	c.313A>T	c.(313-315)Aaa>Taa	p.K105*	ZNF880_ENST00000424032.2_3'UTR	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	105					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CAAGTCTCTTAAAAATCAACT	0.368																																					p.K105X													ZNF880,colon,carcinoma,-1,1	ZNF880	-1	1	0			c.A313T												61	45	50					19																	52887146		690	1569	2259	SO:0001587	stop_gained	400713	exon4			TCTCTTAAAAATC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.313A>T	19.37:g.52887146A>T	ENSP00000406318:p.Lys105*		276	0	0		242	0.05	11	NM_001145434	27	0	0	B4DNA6	Nonsense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	A	8.517	0.867766	0.17250	.	.	ENSG00000221923	ENST00000422689	.	.	.	1.6	-2.54	0.06307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7816	0.03033	0.4842:0.0:0.2398:0.276	.	.	.	.	X	105	.	ENSP00000406318:K105X	K	+	1	0	ZNF880	57578958	0.000000	0.05858	0.006000	0.13384	0.124000	0.20399	-1.231000	0.02939	-0.761000	0.04670	0.368000	0.22195	AAA			0.368	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397374.1		NM_001145434		T	52887146	A	T	52887146	4	4	43	1	0	0	0	0	0	1	0	0	18220	363	13	5	327	5	ZNF880	19	52887146	Nonsense_Mutation	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10	19190708	52887146	6241837	66	3085											
DEFB125	245938	mdanderson.org	37	chr20	77023	77023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctacttccgagactatgCcaccaccttctcagacagct	9	10	6	16	1	1	2	1	0	1	2	3	3	2	2	4	0	4	2	4	0	2	4			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr20:77023C>T	ENST00000382410.2	+	2	436	c.436C>T	c.(436-438)Cca>Tca	p.P146S	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	146					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CGAGACTATGCCACCACCTTC	0.433																																					p.P146S													.	.			0			c.C436T												215	201	206					20																	77023		2203	4300	6503	SO:0001583	missense	245938	exon2			ACTATGCCACCAC	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"Defensins, beta"	18105	protein-coding gene	gene with protein product	"beta defensin 25"					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.436C>T	20.37:g.77023C>T	ENSP00000371847:p.Pro146Ser		51	0	0		47	0.06	3	NM_153325	0		0	A1A502|Q7Z7B9	Missense_Mutation	SNP	ENST00000382410.2	37	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	11.15	1.552675	0.27739	.	.	ENSG00000178591	ENST00000382410	T	0.14144	2.53	2.7	-5.39	0.02664	.	.	.	.	.	T	0.05090	0.0136	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.12837	0.008	T	0.33979	-0.9847	9	0.23891	T	0.37	.	0.6573	0.00837	0.1647:0.2894:0.2134:0.3325	.	146	Q8N687	DB125_HUMAN	S	146	ENSP00000371847:P146S	ENSP00000371847:P146S	P	+	1	0	DEFB125	25023	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.319000	0.02702	-2.514000	0.00502	-0.300000	0.09419	CCA			0.433	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077426.2		NM_153325		T	77023	C	T	77023	3	4	43	1	0	0	0	0	1	0	0	0	4415	739	26	2	442	2	DEFB125	20	77023	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10		77023	62948497	67	3086											
TRPC4AP	26133	mdanderson.org	37	chr20	33609143	33609143	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagaagcccctggaggAgggaacacaatggaggctga	12	5	14	10	0	1	2	1	1	0	1	2	6	2	6	3	5	2	1	3	5	3	0			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr20:33609143A>G	ENST00000252015.2	-	9	1157	c.1068T>C	c.(1066-1068)ccT>ccC	p.P356P	TRPC4AP_ENST00000539834.1_Intron|TRPC4AP_ENST00000451813.2_Intron|TRPC4AP_ENST00000432634.2_Silent_p.P317P			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	356	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCCCTGGAGGAGGGAACACAA	0.537																																					p.P356P													.	.			0			c.T1068C												76	67	70					20																	33609143		2203	4300	6503	SO:0001819	synonymous_variant	26133	exon9			TGGAGGAGGGAAC	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1068T>C	20.37:g.33609143A>G			53	0	0		48	0.06	3	NM_015638	41	0	0	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	CCDS13246.1																																																																																					0.537	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078832.2		NM_015638		G	33609143	A	G	33609143	2	3	43	1	0	0	0	0	0	0	0	1	16605	291	11	4		4	TRPC4AP	20	33609143	Silent	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10	33532120	33609143	29416377	68	3087											
GGT1	2678	broad.mit.edu	37	chr22	25016921	25016921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcttcgggagggggAgagactgaccctgccgcagc	9	5	17	10	2	0	2	0	1	0	1	1	5	0	4	2	4	3	2	2	4	1	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr22:25016921A>G	ENST00000400382.1	+	9	1372	c.617A>G	c.(616-618)gAg>gGg	p.E206G	GGT1_ENST00000466310.1_Intron|GGT1_ENST00000406383.2_Missense_Mutation_p.E206G|GGT1_ENST00000400380.1_Missense_Mutation_p.E206G|GGT1_ENST00000400383.1_Missense_Mutation_p.E206G|GGT1_ENST00000248923.4_Missense_Mutation_p.E206G			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	206					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CGGGAGGGGGAGAGACTGACC	0.642																																					p.E206G													.	GGT1	68		0			c.A617G												22	24	23					22																	25016921		2016	4166	6182	SO:0001583	missense	2678	exon9			AGGGGGAGAGACT	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.617A>G	22.37:g.25016921A>G	ENSP00000383232:p.Glu206Gly		319	0.0031347962	1		277	0.02	6	NM_013430	33	0.03	1	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065977	0.36470	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06;3.06	3.94	3.94	0.45596	.	0.195110	0.42172	U	0.000746	T	0.13500	0.0327	M	0.66297	2.02	0.26890	N	0.967348	B	0.22146	0.065	B	0.31337	0.128	T	0.10109	-1.0644	10	0.72032	D	0.01	-37.9999	12.3003	0.54870	1.0:0.0:0.0:0.0	.	206	P19440	GGT1_HUMAN	G	206	ENSP00000248923:E206G;ENSP00000393537:E206G;ENSP00000383232:E206G;ENSP00000383233:E206G;ENSP00000383231:E206G;ENSP00000385975:E206G	ENSP00000248923:E206G	E	+	2	0	GGT1	23346921	1.000000	0.71417	0.226000	0.23910	0.399000	0.30720	5.763000	0.68818	1.564000	0.49628	0.454000	0.30748	GAG			0.642	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250797.1		NM_013430		G	25016921	A	G	25016921	3	3	43	1	0	0	0	0	1	0	0	0	6375	304	11	4	635	4	GGT1	22	25016921	Missense_Mutation	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10		25016921	26287645	69	3088											
TPST2	8459	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr22	26936904	26936906	+	In_Frame_Del	DEL	CTC	CTC	-																															tagtacacaggcaggcacttCtccttgcctacctccatgca																										TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	CTC	CTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr22:26936904_26936906delCTC	ENST00000338754.4	-	3	961_963	c.691_693delGAG	c.(691-693)gagdel	p.E231del	TPST2_ENST00000398110.2_In_Frame_Del_p.E231del|TPST2_ENST00000403880.1_In_Frame_Del_p.E231del	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	231					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GCAGGCACTTCTCCTTGCCTACC	0.606																																					p.231_232del													.	TPST2	23		0			c.692_694del																																									SO:0001651	inframe_deletion	8459	exon3			GCACTTCTCCTTG	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.691_693delGAG	22.37:g.26936904_26936906delCTC	ENSP00000339813:p.Glu231del		105	0	0		102	0.1	10	NM_003595	589	0	0	B3KQA7|Q6FI98|Q9H0V4	In_Frame_Del	DEL	ENST00000338754.4	37	CCDS13839.1																																																																																					0.606	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320820.3		NM_003595		-	26936906	CTC	-	26936904	7	5	43	1	0	1	0	1	0	0	0	0	16452	912	32	0	456	0	TPST2	22	26936904	In_Frame_Del	DEL	CTC	TCGA-2G-AAGZ-01A-11D-A42Y-10	1919983	26936904	24367662	70	3089											
AP1B1	162	mdanderson.org	37	chr22	29730383	29730383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagccccttagccttcAtggctgggagccagacctgc	6	9	10	16	0	2	1	1	0	1	1	3	2	2	2	6	2	4	1	6	2	1	2			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr22:29730383A>G	ENST00000405198.1	-	16	2211	c.2180T>C	c.(2179-2181)aTg>aCg	p.M727T	AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Missense_Mutation_p.M720T|AP1B1_ENST00000357586.2_Missense_Mutation_p.M727T|AP1B1_ENST00000415447.1_Missense_Mutation_p.M720T|AP1B1_ENST00000432560.2_Missense_Mutation_p.M720T|AP1B1_ENST00000356015.2_Missense_Mutation_p.M720T|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000317368.7_Intron			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	727					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTAGCCTTCATGGCTGGGAG	0.622																																					p.M727T													.	.			0			c.T2180C												54	49	51					22																	29730383		2203	4300	6503	SO:0001583	missense	162	exon17			GCCTTCATGGCTG	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2180T>C	22.37:g.29730383A>G	ENSP00000384194:p.Met727Thr		58	0	0		54	0.06	3	NM_001127	97	0	0	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	A	4.083	0.013343	0.07912	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000402502;ENST00000415447	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.56	5.56	0.83823	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	0.29945	0.0749	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.12013	0.003;0.0;0.005;0.004	B;B;B;B	0.19946	0.007;0.001;0.027;0.023	T	0.10543	-1.0625	10	0.12103	T	0.63	-43.3469	15.3711	0.74564	1.0:0.0:0.0:0.0	.	280;720;727;720	B4DS79;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	T	727;720;720;727;720;720	ENSP00000350199:M727T;ENSP00000348297:M720T;ENSP00000400065:M720T;ENSP00000384194:M727T;ENSP00000386071:M720T;ENSP00000387612:M720T	ENSP00000348297:M720T	M	-	2	0	AP1B1	28060383	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	9.251000	0.95483	2.113000	0.64589	0.460000	0.39030	ATG			0.622	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000321374.1		NM_001127		G	29730383	A	G	29730383	3	3	43	1	0	0	0	0	1	0	0	0	731	217	8	4	697	4	AP1B1	22	29730383	Missense_Mutation	SNP	A	TCGA-2G-AAGZ-01A-11D-A42Y-10	2793479	29730383	21574183	71	3090											
MTP18	51537	mdanderson.org	37	chr22	30822783	30822783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgagctatggcgtggccaGctcctacgtgctggcggatg	5	9	16	11	3	0	1	0	1	0	0	1	2	1	2	2	4	4	4	2	4	2	2	rs373693838		TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr22:30822783G>T	ENST00000266263.5	+	2	496	c.146G>T	c.(145-147)aGc>aTc	p.S49I	MTFP1_ENST00000407550.3_Missense_Mutation_p.S49I|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.S221I|MTFP1_ENST00000355143.4_Missense_Mutation_p.S49I	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	49					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						GGCGTGGCCAGCTCCTACGTG	0.567											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S49I													.	.			0			c.G146T							G	ILE/SER,ILE/SER	0,4406		0,0,2203	70	69	70		146,146	4.4	1	22		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MTFP1	NM_001003704.2,NM_016498.4	142,142	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	49/136,49/167	30822783	1,13005	2203	4300	6503	SO:0001583	missense	51537	exon2			TGGCCAGCTCCTA	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.146G>T	22.37:g.30822783G>T	ENSP00000266263:p.Ser49Ile		32	0	0	820	44	0.07	3	NM_016498	68	0	0	A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	ENST00000266263.5	37	CCDS33635.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580603	0.86645	0.0	1.16E-4	ENSG00000249590;ENSG00000242114;ENSG00000242114;ENSG00000242114	ENST00000439838;ENST00000266263;ENST00000355143;ENST00000407550	T	0.66099	-0.19	5.44	4.38	0.52667	.	0.052651	0.64402	D	0.000001	T	0.58192	0.2105	N	0.12527	0.23	0.80722	D	1	D;B	0.67145	0.996;0.024	P;B	0.62089	0.898;0.028	T	0.54569	-0.8274	10	0.21540	T	0.41	-12.8995	14.1051	0.65083	0.0:0.3596:0.6404:0.0	.	49;49	Q9UDX5-2;Q9UDX5	.;MTFP1_HUMAN	I	221;49;49;49	ENSP00000415178:S221I	ENSP00000266263:S49I	S	+	2	0	MTFP1;RP4-539M6.19	29152783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.177000	0.58276	2.557000	0.86248	0.655000	0.94253	AGC			0.567	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321126.3		NM_016498		T	30822783	G	T	30822783	3	4	43	1	0	0	0	0	1	0	0	0	9971	971	34	2	152	2	MTP18	22	30822783	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	1092400	30822783	20481783	72	3091											
PLA2G6	8398	broad.mit.edu	37	chr22	38565263	38565263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggggttgaccaggacGcagtcccaggtgcggttggg	5	9	17	10	2	0	1	0	1	0	0	2	2	2	2	3	6	1	3	3	6	0	3	rs150718378	byFrequency	TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr22:38565263G>A	ENST00000332509.3	-	2	354	c.171C>T	c.(169-171)tgC>tgT	p.C57C	PLA2G6_ENST00000417303.2_Silent_p.C57C|PLA2G6_ENST00000435484.1_Silent_p.C57C|PLA2G6_ENST00000335539.3_Silent_p.C57C|PLA2G6_ENST00000447598.2_Silent_p.C57C|PLA2G6_ENST00000436218.1_Silent_p.C57C|PLA2G6_ENST00000402064.1_Silent_p.C57C	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	57					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGACCAGGACGCAGTCCCAGG	0.587													G|||	3	0.000599042	0	0.0029	5008	,	,		19065	0		0.001	False		,,,				2504	0				p.C57C													.	PLA2G6	54		0			c.C171T							G	,,	1,4405	2.1+/-5.4	0,1,2202	90	81	84		171,171,171	2.7	0.9	22	dbSNP_134	84	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PLA2G6	NM_001004426.1,NM_001199562.1,NM_003560.2	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	57/753,57/753,57/807	38565263	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8398	exon2			CAGGACGCAGTCC	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.171C>T	22.37:g.38565263G>A			242	0.0041322314	1		223	0.03	6	NM_003560	13	0	0	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	ENST00000332509.3	37	CCDS13967.1																																																																																					0.587	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321860.1		NM_001004426		A	38565263	G	A	38565263	2	1	43	1	0	0	0	0	0	0	0	1	12025	1079	38	1		1	PLA2G6	22	38565263	Silent	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	7742480	38565263	12739303	73	3092											
EP300	2033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	41573417	41573417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgtcccagggtaaggCagcaggccaggtgacccctc	7	6	13	15	0	0	1	0	1	0	0	2	1	1	1	5	4	1	3	5	4	1	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr22:41573417C>T	ENST00000263253.7	+	31	6921	c.5702C>T	c.(5701-5703)gCa>gTa	p.A1901V	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1901					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAGGGTAAGGCAGCAGGCCAG	0.627			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																												p.A1901V				Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	.	.			0			c.C5702T												81	74	76					22																	41573417		2203	4300	6503	SO:0001583	missense	2033	exon31	Familial Cancer Database	Broad Thumb-Hallux syndrome	GTAAGGCAGCAGG	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5702C>T	22.37:g.41573417C>T	ENSP00000263253:p.Ala1901Val		172	0	0		215	0.11	23	NM_001429	59	0.37	22	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355833	0.41700	.	.	ENSG00000100393	ENST00000263253	D	0.83755	-1.76	5.34	5.34	0.76211	.	0.000000	0.48286	D	0.000194	T	0.82245	0.4995	M	0.62723	1.935	0.40343	D	0.979052	P	0.43477	0.808	B	0.39706	0.307	T	0.83188	-0.0085	10	0.38643	T	0.18	-8.0629	19.043	0.93008	0.0:1.0:0.0:0.0	.	1901	Q09472	EP300_HUMAN	V	1901	ENSP00000263253:A1901V	ENSP00000263253:A1901V	A	+	2	0	EP300	39903363	0.991000	0.36638	1.000000	0.80357	0.837000	0.47467	7.500000	0.81588	2.504000	0.84457	0.462000	0.41574	GCA			0.627	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320600.1		NM_001429		T	41573417	C	T	41573417	3	4	43	1	0	0	0	0	1	0	0	0	5155	710	25	2	5824	2	EP300	22	41573417	Missense_Mutation	SNP	C	TCGA-2G-AAGZ-01A-11D-A42Y-10	3008154	41573417	9731149	74	3093											
SBF1	6305	broad.mit.edu;mdanderson.org	37	chr22	50906112	50906112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcatcctccacgcgcGtcgtttcctgctgggggtca	3	11	13	14	4	1	0	1	0	0	0	5	0	4	0	3	3	1	3	3	3	0	1			TCGA-2G-AAGZ-01A-11D-A42Y-10	TCGA-2G-AAGZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9e36af2-c8cd-436c-9de1-408317d4f0a0	3de3355b-52d4-4275-a1e4-991e15876ae6	g.chr22:50906112G>T	ENST00000390679.3	-	4	471	c.287C>A	c.(286-288)aCg>aAg	p.T96K	SBF1_ENST00000380817.3_Missense_Mutation_p.T96K|SBF1_ENST00000348911.6_Missense_Mutation_p.T97K			O95248	MTMR5_HUMAN	SET binding factor 1	96					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)	p.T96R(2)		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)		CTCCACGCGCGTCGTTTCCTG	0.652																																					p.T96K													SBF1_ENST00000380817,NS,carcinoma,0,2	SBF1	211	2	2	Substitution - Missense(2)	lung(2)	c.C287A												48	47	47					22																	50906112		2022	4141	6163	SO:0001583	missense	6305	exon4			ACGCGCGTCGTTT	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.287C>A	22.37:g.50906112G>T	ENSP00000375097:p.Thr96Lys		83	0	0		78	0.05	4	NM_002972	12	0	0	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	G	0.004	-2.343529	0.00222	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.85773	-2.03;-1.98;-2.03	4.39	-1.68	0.08212	.	0.969423	0.08472	N	0.940833	T	0.63177	0.2489	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.14578	0.011;0.001	T	0.53222	-0.8469	10	0.05436	T	0.98	.	6.0462	0.19762	0.4415:0.1456:0.4129:0.0	.	97;96	G5E933;O95248-4	.;.	K	96;97;107;106;96	ENSP00000370196:T96K;ENSP00000252027:T97K;ENSP00000375097:T96K	ENSP00000336522:T106K	T	-	2	0	SBF1	49252978	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.021000	0.13489	-0.235000	0.09767	-0.258000	0.10820	ACG			0.652	SBF1-201	KNOWN	basic	protein_coding	protein_coding						T	50906112	G	T	50906112	3	4	43	1	0	0	0	0	1	0	0	0	13881	1145	40	1	5546	1	SBF1	22	50906112	Missense_Mutation	SNP	G	TCGA-2G-AAGZ-01A-11D-A42Y-10	9332695	50906112	398454	75	3094											
DNAJC16	23341	mdanderson.org	37	chr1	15892415	15892415	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttaatttggttttaggAgggaaatgatgcccctgctg	8	16	12	5	0	0	1	0	1	0	0	0	3	0	3	2	3	2	3	2	3	3	5	rs2236215	byFrequency	TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:15892415A>T	ENST00000375847.3	+	12	1764	c.1600A>T	c.(1600-1602)Agg>Tgg	p.R534W	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Splice_Site_p.R534W|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375838.1_Splice_Site_p.R534W	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	534					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)		TGGTTTTAGGAGGGAAATGAT	0.408																																					p.R534W													.	.			0			c.A1600T												276	305	295					1																	15892415		2203	4300	6503	SO:0001630	splice_region_variant	23341	exon12			TTTAGGAGGGAAA	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.1599-1A>T	1.37:g.15892415A>T			193	0	0		99	0.03	3	NM_015291	21	0	0	Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450414	0.43531	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.21191	2.02;2.02;2.02	5.94	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	M	0.70275	2.135	0.34485	P	0.29572200000000004	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57900	-0.7731	9	0.87932	D	0	-24.7242	13.1897	0.59702	0.4189:0.5811:0.0:0.0	.	534;534	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	W	534	ENSP00000365007:R534W;ENSP00000364998:R534W;ENSP00000365009:R534W	ENSP00000364998:R534W	R	+	1	2	DNAJC16	15765002	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	1.437000	0.34991	0.814000	0.34374	-0.215000	0.12644	AGG			0.408	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006764.1		NM_015291	Missense_Mutation	T	15892415	A	T	15892415	5	4	44	1	0	0	0	0	0	0	1	0	4640	318	11	5	1642	5	DNAJC16	1	15892415	Splice_Site	SNP	A	TCGA-2G-AAH0-01A-11D-A42Y-10		15892415	233358206	1	3095											
L1TD1	54596	mdanderson.org	37	chr1	62676994	62676994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagaatttagagattatGttttgcatatgcccaccttg	11	16	8	6	0	0	3	0	1	0	2	0	4	0	3	2	0	2	2	2	0	5	8			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:62676994G>T	ENST00000498273.1	+	4	2843	c.2548G>T	c.(2548-2550)Gtt>Ttt	p.V850F	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	850										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tagagattatgttttgcatat	0.383																																					p.V850F													.	.			0			c.G2548T												36	37	37					1																	62676994		2196	4297	6493	SO:0001583	missense	54596	exon5			GATTATGTTTTGC	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.2548G>T	1.37:g.62676994G>T	ENSP00000419901:p.Val850Phe		197	0	0		86	0.07	6	NM_001164835	999	0	0	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	9.789	1.177483	0.21787	.	.	ENSG00000240563	ENST00000498273	T	0.17054	2.3	2.67	-4.33	0.03677	.	.	.	.	.	T	0.24699	0.0599	L	0.46947	1.48	0.09310	N	1	P	0.48294	0.908	P	0.58520	0.84	T	0.18713	-1.0328	9	0.62326	D	0.03	.	8.37	0.32410	0.5959:0.0:0.4041:0.0	.	850	Q5T7N2	LITD1_HUMAN	F	850	ENSP00000419901:V850F	ENSP00000419901:V850F	V	+	1	0	L1TD1	62449582	0.004000	0.15560	0.000000	0.03702	0.088000	0.18126	-0.890000	0.04140	-1.098000	0.03038	0.305000	0.20034	GTT			0.383	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000024688.1		NM_019079		T	62676994	G	T	62676994	3	4	44	1	0	0	0	0	1	0	0	0	8604	1377	48	3	2554	3	L1TD1	1	62676994	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	46784579	62676994	186573627	2	3096											
CD53	963	mdanderson.org	37	chr1	111440512	111440512	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgtgtatgtgtgattGaggtaagagcttaaccacag	11	12	11	7	0	1	3	0	2	1	1	1	3	1	3	2	1	2	3	2	1	3	4			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:111440512G>T	ENST00000271324.5	+	7	698	c.586G>T	c.(586-588)Gag>Tag	p.E196*	CD53_ENST00000429072.2_Nonsense_Mutation_p.E137*|CD53_ENST00000497404.1_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	196					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATGTGTGATTGAGGTAAGAgc	0.373																																					p.E196X													.	.			0			c.G586T												164	152	156					1																	111440512		2203	4300	6503	SO:0001587	stop_gained	963	exon7			GTGATTGAGGTAA	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"CD molecules", "Tetraspanins"	1686	protein-coding gene	gene with protein product		151525	"CD53 antigen"	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.586G>T	1.37:g.111440512G>T	ENSP00000271324:p.Glu196*		35	0	0		24	0.13	3	NM_000560	179	0	0	B2R905|Q5U0D6	Nonsense_Mutation	SNP	ENST00000271324.5	37	CCDS829.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227564	0.39399	.	.	ENSG00000143119	ENST00000429072;ENST00000271324	.	.	.	5.54	3.65	0.41850	.	0.151899	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.9281	0.63975	0.0:0.5332:0.4668:0.0	.	.	.	.	X	137;196	.	ENSP00000271324:E196X	E	+	1	0	CD53	111242035	0.629000	0.27146	0.890000	0.34922	0.121000	0.20230	0.732000	0.26072	0.699000	0.31761	-0.519000	0.04390	GAG			0.373	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032931.1		NM_000560		T	111440512	G	T	111440512	4	4	44	1	0	0	0	0	0	1	0	0	3025	1291	45	3	608	3	CD53	1	111440512	Nonsense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	48763518	111440512	137810109	3	3097											
DUSP27	92235	mdanderson.org	37	chr1	167097040	167097040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggatgaggacactgacaGtgccatagggagcttccgat	10	8	15	8	1	0	2	0	2	0	0	1	6	1	5	2	4	2	1	2	4	1	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:167097040G>T	ENST00000361200.2	+	6	2838	c.2672G>T	c.(2671-2673)aGt>aTt	p.S891I	DUSP27_ENST00000271385.5_Missense_Mutation_p.S891I|DUSP27_ENST00000443333.1_Missense_Mutation_p.S891I|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	891	Ser-rich.				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						GACACTGACAGTGCCATAGGG	0.512																																					p.S891I													.	.			0			c.G2672T												107	91	96					1																	167097040		2203	4300	6503	SO:0001583	missense	92235	exon5			CTGACAGTGCCAT	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.2672G>T	1.37:g.167097040G>T	ENSP00000354483:p.Ser891Ile		47	0.0212765957	1		22	0.09	2	NM_001080426	0		0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764706	0.49574	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03717	3.83;3.83;3.83	5.4	5.4	0.78164	.	0.589559	0.15662	N	0.250879	T	0.08492	0.0211	M	0.65975	2.015	0.30752	N	0.745036	D	0.71674	0.998	D	0.63488	0.915	T	0.01242	-1.1408	10	0.87932	D	0	-19.9392	13.4759	0.61308	0.0748:0.0:0.9251:0.0	.	891	Q5VZP5	DUS27_HUMAN	I	891	ENSP00000354483:S891I;ENSP00000271385:S891I;ENSP00000404874:S891I	ENSP00000271385:S891I	S	+	2	0	DUSP27	165363664	1.000000	0.71417	0.966000	0.40874	0.899000	0.52679	3.234000	0.51320	2.499000	0.84300	0.643000	0.83706	AGT			0.512	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083244.1		NM_001080426		T	167097040	G	T	167097040	3	4	44	1	0	0	0	0	1	0	0	0	4829	1029	36	3	2690	3	DUSP27	1	167097040	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	55656528	167097040	82153581	4	3098											
RBBP5	5929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	205084037	205084037	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagcagtgtgccccacctgTtaaaggtgcaagtcaaagcc	12	7	10	12	0	1	0	1	0	0	0	1	0	1	0	4	1	4	3	4	1	5	1			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:205084037T>C	ENST00000264515.6	-	3	239	c.98A>G	c.(97-99)aAc>aGc	p.N33S	RBBP5_ENST00000367164.1_Missense_Mutation_p.N33S|RBBP5_ENST00000484379.1_5'UTR	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	33					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCCCCACCTGTTAAAGGTGCA	0.413																																					p.N33S													.	.			0			c.A98G												51	46	48					1																	205084037		2203	4298	6501	SO:0001583	missense	5929	exon3			CACCTGTTAAAGG	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.98A>G	1.37:g.205084037T>C	ENSP00000264515:p.Asn33Ser		375	0	0		200	0.14	28	NM_005057	23	0.35	8	A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964306	0.92791	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.56941	0.43;0.45	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.45051	1.395	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	0.56312	-0.8000	10	0.09590	T	0.72	.	15.8462	0.78895	0.0:0.0:0.0:1.0	.	68;33;33	B4DMM7;Q15291-2;Q15291	.;.;RBBP5_HUMAN	S	33	ENSP00000264515:N33S;ENSP00000356132:N33S	ENSP00000264515:N33S	N	-	2	0	RBBP5	203350660	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.936000	0.87665	2.232000	0.73038	0.528000	0.53228	AAC			0.413	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090077.1		NM_005057		C	205084037	T	C	205084037	3	2	44	1	0	0	0	0	1	0	0	0	13125	1725	60	4	1566	4	RBBP5	1	205084037	Missense_Mutation	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10	37986997	205084037	44166584	5	3099											
WDR43	23160	mdanderson.org	37	chr2	29158442	29158442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagactgtattaaggatgcCcctgcatactattattccgt	11	13	8	9	1	0	1	0	0	0	1	1	3	1	2	3	1	3	2	3	1	6	6			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr2:29158442C>A	ENST00000407426.3	+	12	1549	c.1493C>A	c.(1492-1494)cCc>cAc	p.P498H		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	498						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTAAGGATGCCCCTGCATACT	0.338																																					p.P498H													.	.			0			c.C1493A												117	109	112					2																	29158442		1826	4080	5906	SO:0001583	missense	23160	exon12			GGATGCCCCTGCA	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1493C>A	2.37:g.29158442C>A	ENSP00000384302:p.Pro498His		117	0	0		44	0.07	3	NM_015131	116	0	0	Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	CCDS46251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.35|16.35	3.097333|3.097333	0.56075|0.56075	.|.	.|.	ENSG00000163811|ENSG00000163811	ENST00000407426|ENST00000446643	T|.	0.79352|.	-1.26|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.84401|0.84401	0.5464|0.5464	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.83854|0.83854	0.0264|0.0264	10|7	0.52906|0.35671	T|T	0.07|0.21	-8.9694|-8.9694	19.7203|19.7203	0.96139|0.96139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	498|.	Q15061|.	WDR43_HUMAN|.	H|T	498|50	ENSP00000384302:P498H|.	ENSP00000384302:P498H|ENSP00000406083:P50T	P|P	+|+	2|1	0|0	WDR43|WDR43	29011946|29011946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.104000|0.104000	0.19210|0.19210	5.634000|5.634000	0.67833|0.67833	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCC|CCC			0.338	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324865.1		XM_087089		A	29158442	C	A	29158442	3	1	44	1	0	0	0	0	1	0	0	0	17319	623	22	3	1539	3	WDR43	2	29158442	Missense_Mutation	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10		29158442	214040931	6	3100											
GPD1L	23171	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	32201135	32201135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttctgctgaagtgtacCgcatcctcaaacagaaggga	13	8	10	10	1	2	3	1	1	1	2	3	4	3	4	2	1	3	3	2	1	4	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr3:32201135C>T	ENST00000282541.5	+	7	1129	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	310					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						TGAAGTGTACCGCATCCTCAA	0.453																																					p.R310C													.	.			0			c.C928T												63	58	59					3																	32201135		2203	4300	6503	SO:0001583	missense	23171	exon7			GTGTACCGCATCC	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.928C>T	3.37:g.32201135C>T	ENSP00000282541:p.Arg310Cys		382	0	0		160	0.07	11	NM_015141	11	0.09	1	A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	ENST00000282541.5	37	CCDS33729.1	.	.	.	.	.	.	.	.	.	.	c	16.85	3.236058	0.58886	.	.	ENSG00000152642	ENST00000282541	T	0.65364	-0.15	5.54	4.67	0.58626	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal (1);	0.384468	0.30930	N	0.008599	T	0.67933	0.2946	M	0.64170	1.965	0.58432	D	0.999998	P	0.44195	0.828	P	0.51170	0.661	T	0.70608	-0.4825	10	0.72032	D	0.01	-25.7577	10.6686	0.45745	0.1318:0.7987:0.0:0.0695	.	310	Q8N335	GPD1L_HUMAN	C	310	ENSP00000282541:R310C	ENSP00000282541:R310C	R	+	1	0	GPD1L	32176139	0.710000	0.27896	1.000000	0.80357	0.312000	0.27988	2.021000	0.41020	1.345000	0.45676	0.550000	0.68814	CGC			0.453	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341975.2		NM_015141		T	32201135	C	T	32201135	3	4	44	1	0	0	0	0	1	0	0	0	6619	652	23	1	954	1	GPD1L	3	32201135	Missense_Mutation	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10		32201135	165821295	7	3101											
ITIH4	3700	mdanderson.org	37	chr3	52863240	52863240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctggtgacgaccgtgtggGcaaatcgggatgagaccctg	8	7	17	9	3	0	2	0	2	0	1	1	5	0	3	2	4	0	2	2	4	1	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr3:52863240G>A	ENST00000266041.4	-	2	242	c.146C>T	c.(145-147)gCc>gTc	p.A49V	ITIH4_ENST00000485816.1_Missense_Mutation_p.A49V|RP5-966M1.6_ENST00000513520.1_5'Flank|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.A49V|ITIH4_ENST00000346281.5_Missense_Mutation_p.A49V|ITIH4_ENST00000434759.3_Intron	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	49	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GACCGTGTGGGCAAATCGGGA	0.562																																					p.A49V													.	.			0			c.C146T												152	133	140					3																	52863240		2203	4300	6503	SO:0001583	missense	3700	exon2			GTGTGGGCAAATC	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.146C>T	3.37:g.52863240G>A	ENSP00000266041:p.Ala49Val		120	0	0		86	0.06	5	NM_002218	5	0	0	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056864	0.76074	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.25	5.25	0.73442	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.087629	0.47093	D	0.000242	T	0.68732	0.3033	M	0.84433	2.695	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	0.73304	-0.4025	10	0.56958	D	0.05	-26.97	16.6329	0.85038	0.0:0.0:1.0:0.0	.	49;49;49	E9PGN5;B7ZKJ8;Q14624	.;.;ITIH4_HUMAN	V	49	ENSP00000266041:A49V;ENSP00000340520:A49V;ENSP00000417824:A49V;ENSP00000384425:A49V	ENSP00000266041:A49V	A	-	2	0	ITIH4	52838280	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	5.662000	0.68032	2.438000	0.82558	0.655000	0.94253	GCC			0.562	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317715.1		NM_002218		A	52863240	G	A	52863240	3	1	44	1	0	0	0	0	1	0	0	0	7921	1203	42	2	2738	2	ITIH4	3	52863240	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	20662105	52863240	145159190	8	3102											
C3orf55	152078	mdanderson.org	37	chr3	157271080	157271080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaactatagagtcaacactGcaaactcaagcactgatacg	17	7	7	10	1	2	2	2	1	0	1	2	3	2	2	0	0	6	2	0	0	7	3			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr3:157271080G>A	ENST00000449199.2	+	2	175	c.34G>A	c.(34-36)Gca>Aca	p.A12T	C3orf55_ENST00000459838.1_Missense_Mutation_p.A12T|C3orf55_ENST00000426338.2_Missense_Mutation_p.A12T|C3orf55_ENST00000498159.1_Intron|C3orf55_ENST00000468043.1_Missense_Mutation_p.A12T|C3orf55_ENST00000312275.5_Missense_Mutation_p.A12T|C3orf55_ENST00000461040.1_Missense_Mutation_p.A12T	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN		12										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			AGTCAACACTGCAAACTCAAG	0.398																																					p.A12T													.	.			0			c.G34A												93	99	97					3																	157271080		1968	4137	6105	SO:0001583	missense	152078	exon2			AACACTGCAAACT																												ENST00000449199.2:c.34G>A	3.37:g.157271080G>A	ENSP00000413228:p.Ala12Thr		103	0	0		51	0.06	3	NM_001130002	0		0	C9JP04|C9JXB5|Q8N6Q6	Missense_Mutation	SNP	ENST00000449199.2	37	CCDS46943.1	.	.	.	.	.	.	.	.	.	.	G	4.228	0.041203	0.08196	.	.	ENSG00000174899	ENST00000312275;ENST00000468043;ENST00000459838;ENST00000461040;ENST00000449199;ENST00000426338	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	1.83	-0.13	0.13498	.	.	.	.	.	T	0.25865	0.0630	L	0.44542	1.39	0.09310	N	1	B;B;B	0.27166	0.17;0.092;0.092	B;B;B	0.30316	0.114;0.065;0.105	T	0.29761	-1.0001	9	0.44086	T	0.13	.	2.1966	0.03913	0.1942:0.0:0.4989:0.3069	.	12;12;12	C9JXB5;A1A4F0;A1A4F0-2	.;CC055_HUMAN;.	T	12	ENSP00000312323:A12T;ENSP00000420049:A12T;ENSP00000420317:A12T;ENSP00000417372:A12T;ENSP00000413228:A12T;ENSP00000387918:A12T	ENSP00000312323:A12T	A	+	1	0	C3orf55	158753774	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.015000	0.03637	-0.050000	0.13356	-0.293000	0.09583	GCA			0.398	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352018.1				A	157271080	G	A	157271080	3	1	44	1	0	0	0	0	1	0	0	0	2236	1319	46	2	36	2	C3orf55	3	157271080	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	104407840	157271080	40751350	9	3103											
MTTP	4547	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	100529976	100529976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccgtaaagttcatgaaaaGactgtgcgcactgctgcagc	13	8	10	10	2	1	2	1	1	0	1	1	2	1	2	1	0	5	5	1	0	5	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr4:100529976G>C	ENST00000265517.5	+	12	1814	c.1611G>C	c.(1609-1611)aaG>aaC	p.K537N	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.K564N|MTTP_ENST00000457717.1_Missense_Mutation_p.K537N			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	537	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)	TTCATGAAAAGACTGTGCGCA	0.388																																					p.K537N													.	MTTP	127		0			c.G1611C												117	115	116					4																	100529976		2203	4300	6503	SO:0001583	missense	4547	exon13			TGAAAAGACTGTG		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.1611G>C	4.37:g.100529976G>C	ENSP00000265517:p.Lys537Asn		122	0	0		46	0.09	4	NM_000253	0		0	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496187	0.26861	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.63417	-0.04;-0.02;-0.02	4.91	3.19	0.36642	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.85682	D	0.000000	T	0.72423	0.3458	M	0.66506	2.035	0.53005	D	0.999967	P;D	0.89917	0.659;1.0	B;D	0.91635	0.259;0.999	T	0.67632	-0.5621	10	0.22706	T	0.39	-36.628	9.6596	0.39947	0.2259:0.0:0.7741:0.0	.	564;537	E9PBP6;P55157	.;MTP_HUMAN	N	564;537;537	ENSP00000427679:K564N;ENSP00000400821:K537N;ENSP00000265517:K537N	ENSP00000265517:K537N	K	+	3	2	MTTP	100748999	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	1.601000	0.36773	0.594000	0.29761	0.655000	0.94253	AAG			0.388	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253662.3				C	100529976	G	C	100529976	3	2	44	1	0	0	0	0	1	0	0	0	9980	933	33	5	1657	5	MTTP	4	100529976	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		100529976	90624300	10	3104											
METTL14	57721	mdanderson.org	37	chr4	119621782	119621782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttctggggaggggttGgaccttggaagagtggtaag	7	11	20	3	0	1	1	0	0	1	1	1	4	1	4	1	8	0	3	1	8	2	4			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr4:119621782G>T	ENST00000388822.5	+	8	890	c.723G>T	c.(721-723)ttG>ttT	p.L241F	METTL14_ENST00000506780.1_Missense_Mutation_p.L203F			Q9HCE5	MET14_HUMAN	methyltransferase like 14	241					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GGGAGGGGTTGGACCTTGGAA	0.343																																					p.L241F													.	.			0			c.G723T												135	131	132					4																	119621782		2203	4300	6503	SO:0001583	missense	57721	exon8			GGGGTTGGACCTT	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.723G>T	4.37:g.119621782G>T	ENSP00000373474:p.Leu241Phe		144	0	0		50	0.06	3	NM_020961	15	0	0	A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	g	16.82	3.227599	0.58668	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.42900	0.96;0.96	4.37	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.67730	0.2924	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.74281	-0.3716	10	0.87932	D	0	-7.7339	11.8646	0.52486	0.0861:0.0:0.9139:0.0	.	203;241	D6RBL4;Q9HCE5	.;MTL14_HUMAN	F	241;203	ENSP00000373474:L241F;ENSP00000424111:L203F	ENSP00000373474:L241F	L	+	3	2	METTL14	119841230	1.000000	0.71417	0.991000	0.47740	0.640000	0.38277	3.856000	0.55964	2.165000	0.68154	0.467000	0.42956	TTG			0.343	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364034.3		NM_020961		T	119621782	G	T	119621782	3	4	44	1	0	0	0	0	1	0	0	0	9514	1339	47	3	753	3	METTL14	4	119621782	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	19091806	119621782	71532494	11	3105											
KLHL2	11275	bcgsc.ca;mdanderson.org	37	chr4	166231709	166231709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtactccttttgcaggcatGgtctacatggctggacttgt	6	15	11	9	0	1	0	0	0	1	0	2	1	2	1	1	4	3	4	1	4	2	5			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr4:166231709G>T	ENST00000226725.6	+	10	1303	c.1044G>T	c.(1042-1044)atG>atT	p.M348I	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.M251I|KLHL2_ENST00000506761.1_Missense_Mutation_p.M182I|KLHL2_ENST00000514860.1_Missense_Mutation_p.M352I|KLHL2_ENST00000538127.1_Missense_Mutation_p.M260I	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	348					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTGCAGGCATGGTCTACATGG	0.428																																					p.M352I													.	KLHL2	42		0			c.G1056T												243	246	245					4																	166231709		2203	4300	6503	SO:0001583	missense	11275	exon10			AGGCATGGTCTAC	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1044G>T	4.37:g.166231709G>T	ENSP00000226725:p.Met348Ile		147	0	0		83	0.06	5	NM_001161521	8	0	0	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681335	0.68042	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.56	5.56	0.83823	Galactose oxidase, beta-propeller (1);	0.043902	0.85682	D	0.000000	T	0.71039	0.3293	L	0.31420	0.93	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12837	0.008;0.008;0.008	T	0.64879	-0.6303	10	0.46703	T	0.11	.	19.5427	0.95280	0.0:0.0:1.0:0.0	.	352;348;348	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	I	348;352;260;251;182	ENSP00000226725:M348I;ENSP00000424198:M352I;ENSP00000437526:M260I;ENSP00000408974:M251I;ENSP00000424108:M182I	ENSP00000226725:M348I	M	+	3	0	KLHL2	166451159	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.618000	0.74214	2.604000	0.88044	0.650000	0.86243	ATG			0.428	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000364439.1				T	166231709	G	T	166231709	3	4	44	1	0	0	0	0	1	0	0	0	8389	1348	47	3	1124	3	KLHL2	4	166231709	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	46609927	166231709	24922567	12	3106											
RHOBTB3	22836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	95067647	95067647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttatccgcacttacctGgggagaagccctctggtctc	6	10	12	13	1	2	1	0	0	2	1	4	2	3	1	3	4	2	2	3	4	3	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr5:95067647G>A	ENST00000379982.3	+	2	595	c.87G>A	c.(85-87)ctG>ctA	p.L29L	CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.L29L	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	29	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCACTTACCTGGGGAGAAGCC	0.652																																					p.L29L													RHOBTB3,caecum,carcinoma,0,1	RHOBTB3	0	1	0			c.G87A												42	42	42					5																	95067647		2203	4300	6503	SO:0001819	synonymous_variant	22836	exon2			TTACCTGGGGAGA	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.87G>A	5.37:g.95067647G>A			292	0	0		315	0.08	25	NM_014899	26	0.15	4	A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	CCDS4077.1																																																																																					0.652	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241658.1		NM_014899		A	95067647	G	A	95067647	2	1	44	1	0	0	0	0	0	0	0	1	13358	1335	47	3		3	RHOBTB3	5	95067647	Silent	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		95067647	85847613	13	3107											
ARSI	340075	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr5	149677844	149677844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggatatggctggcgcGctgggcataaagcatagtgg	9	7	17	8	2	0	0	0	0	0	0	0	1	0	1	1	6	1	4	1	6	4	3			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr5:149677844G>A	ENST00000328668.7	-	2	1222	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	215					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)			TGGCTGGCGCGCTGGGCATAA	0.627																																					p.R215C													ARSI,NS,carcinoma,+2,2	ARSI	2	2	0			c.C643T												49	49	49					5																	149677844		2202	4300	6502	SO:0001583	missense	340075	exon2			TGGCGCGCTGGGC	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.643C>T	5.37:g.149677844G>A	ENSP00000333395:p.Arg215Cys		94	0	0		62	0.08	5	NM_001012301	9	0.22	2	A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154008	0.57259	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.98717	-5.09;-5.09;-5.09	4.32	4.32	0.51571	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98378	1.0557	10	0.87932	D	0	.	17.3545	0.87332	0.0:0.0:1.0:0.0	.	215	Q5FYB1	ARSI_HUMAN	C	215;72;72	ENSP00000333395:R215C;ENSP00000426879:R72C;ENSP00000420955:R72C	ENSP00000333395:R215C	R	-	1	0	ARSI	149658037	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	5.625000	0.67770	2.401000	0.81631	0.561000	0.74099	CGC			0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373681.1		NM_001012301		A	149677844	G	A	149677844	3	1	44	1	0	0	0	0	1	0	0	0	994	1087	38	1	1070	1	ARSI	5	149677844	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	54610197	149677844	31237416	14	3108											
DNAH8	1769	mdanderson.org	37	chr6	38899770	38899770	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcattctaacagagaaacagGtaatctctctctcaaggtaa	15	11	6	9	0	5	1	2	0	3	1	7	2	5	1	0	2	2	2	0	2	5	4			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr6:38899770G>T	ENST00000359357.3	+	74	11060		c.e74+1		RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA			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						AGAGAAACAGGTAATCTCTCT	0.308																																					.													.	.			0			c.11457+1G>T												62	62	62					6																	38899770		2203	4299	6502	SO:0001630	splice_region_variant	1769	exon76			AAACAGGTAATCT	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.10806+1G>T	6.37:g.38899770G>T			113	0	0		54	0.06	3	NM_001206927	0		0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.074579	0.76415	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	39007748	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.420000	0.97426	2.880000	0.98712	0.650000	0.86243	.			0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000043574.1		NM_001206927	Intron	T	38899770	G	T	38899770	5	4	44	1	0	0	0	0	0	0	1	0	4612	1275	44	3	11093	3	DNAH8	6	38899770	Splice_Site	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		38899770	132215297	15	3109											
SENP6	26054	mdanderson.org	37	chr6	76343405	76343405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactttgaaaggcaacccaAttggacttaacatgttgagc	15	10	8	8	0	0	2	0	2	0	0	0	3	0	3	1	2	4	2	1	2	5	4	rs200483413		TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr6:76343405A>G	ENST00000447266.2	+	4	794	c.316A>G	c.(316-318)Att>Gtt	p.I106V	SENP6_ENST00000370014.3_Missense_Mutation_p.I106V|SENP6_ENST00000370010.2_Missense_Mutation_p.I106V|SENP6_ENST00000327284.8_Missense_Mutation_p.I106V	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	106					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)				AGGCAACCCAATTGGACTTAA	0.353																																					p.I106V													.	.			0			c.A316G												77	73	74					6																	76343405		1834	4079	5913	SO:0001583	missense	26054	exon4			AACCCAATTGGAC		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.316A>G	6.37:g.76343405A>G	ENSP00000402527:p.Ile106Val		105	0	0		50	0.06	3	NM_001100409	52	0	0	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.240365	0.22711	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.19	2.48	0.30137	.	0.504726	0.21936	N	0.066949	T	0.20210	0.0486	M	0.66939	2.045	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.005	T	0.04811	-1.0925	10	0.42905	T	0.14	-1.7971	5.9234	0.19094	0.6992:0.1383:0.1625:0.0	.	106;106;106	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	V	106	ENSP00000359027:I106V;ENSP00000359031:I106V;ENSP00000321820:I106V;ENSP00000402527:I106V	ENSP00000321820:I106V	I	+	1	0	SENP6	76400125	0.996000	0.38824	0.991000	0.47740	0.984000	0.73092	0.972000	0.29409	0.205000	0.20568	0.482000	0.46254	ATT			0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041272.2		NM_015571		G	76343405	A	G	76343405	3	3	44	1	0	0	0	0	1	0	0	0	14073	101	4	4	330	4	SENP6	6	76343405	Missense_Mutation	SNP	A	TCGA-2G-AAH0-01A-11D-A42Y-10	37443635	76343405	94771662	16	3110											
WIPI2	26100	mdanderson.org	37	chr7	5266967	5266967	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacaaaaacatctgctcGctagccacgtgagtagagcc	12	6	10	13	2	1	2	0	1	1	1	2	2	1	2	3	1	4	3	3	1	4	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr7:5266967G>T	ENST00000288828.4	+	10	1237	c.1005G>T	c.(1003-1005)tcG>tcT	p.S335S	WIPI2_ENST00000484262.1_Silent_p.S276S|WIPI2_ENST00000382384.2_Silent_p.S317S|WIPI2_ENST00000404704.3_Silent_p.S335S|WIPI2_ENST00000401525.3_Silent_p.S317S	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	335					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		ACATCTGCTCGCTAGCCACGT	0.647																																					p.S335S													.	.			0			c.G1005T												55	50	52					7																	5266967		2203	4300	6503	SO:0001819	synonymous_variant	26100	exon10			CTGCTCGCTAGCC		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1005G>T	7.37:g.5266967G>T			56	0	0		59	0.05	3	NM_001033518	301	0	1	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	ENST00000288828.4	37	CCDS5339.1																																																																																					0.647	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000241669.2		NM_015610		T	5266967	G	T	5266967	2	4	44	1	0	0	0	0	0	0	0	1	17395	1074	38	1		1	WIPI2	7	5266967	Silent	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		5266967	153871696	17	3111											
CROT	54677	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	87004971	87004971	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgacatatatccacaagaAgtgccatagtgaacctgatg	15	9	8	9	0	0	4	0	3	0	1	1	4	1	4	3	0	2	0	3	0	6	3			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr7:87004971A>G	ENST00000331536.3	+	8	865	c.680A>G	c.(679-681)aAg>aGg	p.K227R	CROT_ENST00000442291.1_Missense_Mutation_p.K227R|CROT_ENST00000419147.2_Missense_Mutation_p.K255R	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	227					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATCCACAAGAAGTGCCATAGT	0.393																																					p.K255R													.	.			0			c.A764G												126	117	120					7																	87004971		2203	4300	6503	SO:0001583	missense	54677	exon9			ACAAGAAGTGCCA		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.680A>G	7.37:g.87004971A>G	ENSP00000331981:p.Lys227Arg		190	0	0		86	0.06	5	NM_001143935	6	0	0	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	A	6.578	0.474917	0.12521	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89123	-2.47;-2.47;-2.47	6.02	2.14	0.27477	.	0.369866	0.36482	N	0.002570	T	0.80834	0.4699	L	0.46885	1.475	0.29535	N	0.852511	B;B	0.12013	0.005;0.0	B;B	0.14023	0.01;0.002	T	0.66031	-0.6024	10	0.22109	T	0.4	-14.5037	4.2308	0.10602	0.5352:0.1707:0.2941:0.0	.	255;227	E7EQF2;Q9UKG9	.;OCTC_HUMAN	R	255;227;227	ENSP00000413575:K255R;ENSP00000331981:K227R;ENSP00000411983:K227R	ENSP00000331981:K227R	K	+	2	0	CROT	86842907	0.998000	0.40836	0.990000	0.47175	0.599000	0.36880	1.353000	0.34045	0.512000	0.28257	0.533000	0.62120	AAG			0.393	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253485.1		NM_021151		G	87004971	A	G	87004971	3	3	44	1	0	0	0	0	1	0	0	0	3896	72	3	4	790	4	CROT	7	87004971	Missense_Mutation	SNP	A	TCGA-2G-AAH0-01A-11D-A42Y-10	81738004	87004971	72133692	18	3112											
CLU	1191	mdanderson.org	37	chr8	27461858	27461858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtccttcatccgcaggCagcccgtggagttgtggcgg	5	9	15	12	3	1	0	1	0	0	0	3	1	3	1	3	5	1	3	3	5	0	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr8:27461858C>A	ENST00000316403.10	-	6	1289	c.884G>T	c.(883-885)tGc>tTc	p.C295F	CLU_ENST00000546343.1_Missense_Mutation_p.C306F|CLU_ENST00000560366.1_Missense_Mutation_p.C347F|CLU_ENST00000523500.1_Missense_Mutation_p.C295F|CLU_ENST00000405140.3_Missense_Mutation_p.C295F			P10909	CLUS_HUMAN	clusterin	295					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CATCCGCAGGCAGCCCGTGGA	0.612																																					p.C295F													.	.			0			c.G884T												106	88	94					8																	27461858		2203	4300	6503	SO:0001583	missense	1191	exon6			CGCAGGCAGCCCG	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.884G>T	8.37:g.27461858C>A	ENSP00000315130:p.Cys295Phe		66	0	0		48	0.06	3	NM_001831	109	0.01	1	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999969	0.93227	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012;ENST00000523589	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.77	5.77	0.91146	Clusterin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	M	0.83603	2.65	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;1.0	T	0.81269	-0.1009	10	0.87932	D	0	-40.905	17.4775	0.87664	0.0:1.0:0.0:0.0	.	160;347;306;295	E7ETA7;P10909-2;P10909-5;P10909	.;.;.;CLUS_HUMAN	F	347;306;295;295;120;160;261	ENSP00000446413:C306F;ENSP00000385419:C295F;ENSP00000429620:C295F;ENSP00000431070:C261F	ENSP00000315130:C347F	C	-	2	0	CLU	27517775	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.719000	0.74718	2.723000	0.93209	0.655000	0.94253	TGC			0.612	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219953.3		NM_001831		A	27461858	C	A	27461858	3	1	44	1	0	0	0	0	1	0	0	0	3570	710	25	2	481	2	CLU	8	27461858	Missense_Mutation	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10		27461858	118902164	19	3113											
SLC44A1	23446	mdanderson.org	37	chr9	108072110	108072110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaatacaaagttggaaGcaataccaaacagtggcatg	20	6	9	6	0	0	1	0	0	0	1	0	2	0	2	1	2	4	3	1	2	8	3			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr9:108072110G>T	ENST00000374720.3	+	3	479	c.232G>T	c.(232-234)Gca>Tca	p.A78S	SLC44A1_ENST00000607692.1_3'UTR|SLC44A1_ENST00000374724.1_Missense_Mutation_p.A78S|SLC44A1_ENST00000374723.1_Missense_Mutation_p.A78S	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	78					choline transport (GO:0015871)|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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AAAGTTGGAAGCAATACCAAA	0.438																																					p.A78S													.	.			0			c.G232T												110	98	102					9																	108072110		2203	4300	6503	SO:0001583	missense	23446	exon3			TTGGAAGCAATAC	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.232G>T	9.37:g.108072110G>T	ENSP00000363852:p.Ala78Ser		108	0	0		46	0.07	3	NM_080546	63	0	0	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881584	0.33255	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.76578	-1.03;-1.03;-1.03	5.89	3.71	0.42584	.	0.412465	0.27759	N	0.017966	T	0.53883	0.1824	N	0.03608	-0.345	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.001	T	0.48317	-0.9046	10	0.19147	T	0.46	-8.8494	12.0235	0.53356	0.0718:0.0:0.8041:0.124	.	78;78	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	S	78	ENSP00000363855:A78S;ENSP00000363852:A78S;ENSP00000363856:A78S	ENSP00000363852:A78S	A	+	1	0	SLC44A1	107111931	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.822000	0.69265	1.471000	0.48121	0.563000	0.77884	GCA			0.438	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000053500.1		NM_080546		T	108072110	G	T	108072110	3	4	44	1	0	0	0	0	1	0	0	0	14658	971	34	2	242	2	SLC44A1	9	108072110	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		108072110	33141321	20	3114											
AKNA	80709	mdanderson.org	37	chr9	117124711	117124711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcaaatcttccaggcgTccccttggagccggcaagcg	9	7	12	13	3	2	0	1	0	1	0	4	2	4	2	4	4	2	1	4	4	2	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr9:117124711T>C	ENST00000307564.4	-	8	2052	c.1891A>G	c.(1891-1893)Acg>Gcg	p.T631A	AKNA_ENST00000312033.3_Missense_Mutation_p.T631A|AKNA_ENST00000223791.3_Missense_Mutation_p.T91A|AKNA_ENST00000374088.3_Missense_Mutation_p.T631A|AKNA_ENST00000374075.5_Missense_Mutation_p.T550A	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	631					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						CTTCCAGGCGTCCCCTTGGAG	0.657																																					p.T631A													.	.			0			c.A1891G												32	35	34					9																	117124711		2203	4300	6503	SO:0001583	missense	80709	exon8			CAGGCGTCCCCTT	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.1891A>G	9.37:g.117124711T>C	ENSP00000303769:p.Thr631Ala		78	0	0		56	0.05	3	NM_030767	62	0	0	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	t	8.827	0.938933	0.18281	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.7	-2.46	0.06461	.	0.905016	0.09367	N	0.811942	T	0.22044	0.0531	L	0.40543	1.245	0.09310	N	1	B;B	0.22683	0.021;0.073	B;B	0.24701	0.012;0.055	T	0.34204	-0.9838	10	0.46703	T	0.11	1.029	5.8809	0.18854	0.0:0.1842:0.4886:0.3272	.	631;550	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	A	631;472;631;91;550;631	ENSP00000303769:T631A;ENSP00000363201:T631A;ENSP00000223791:T91A;ENSP00000363188:T550A;ENSP00000309222:T631A	ENSP00000223791:T91A	T	-	1	0	AKNA	116164532	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.022000	0.12480	-0.233000	0.09797	-0.513000	0.04457	ACG			0.657	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053767.2		NM_030767		C	117124711	T	C	117124711	3	2	44	1	0	0	0	0	1	0	0	0	463	1667	58	4	2488	4	AKNA	9	117124711	Missense_Mutation	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10	9052601	117124711	24088720	21	3115											
LARP4B	23185	mdanderson.org	37	chr10	861005	861005	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgcttgcgtctgcactGagggtctgaaacagggtcaa	9	10	12	10	2	4	2	2	2	2	0	4	2	4	2	0	2	3	2	0	2	2	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr10:861005G>T	ENST00000316157.3	-	15	1741	c.1701C>A	c.(1699-1701)ctC>ctA	p.L567L	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	567					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CGTCTGCACTGAGGGTCTGAA	0.592																																					p.L567L													.	.			0			c.C1701A												84	75	78					10																	861005		2203	4300	6503	SO:0001819	synonymous_variant	23185	exon16			TGCACTGAGGGTC	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1701C>A	10.37:g.861005G>T			63	0	0		52	0.06	3	NM_015155	66	0	0	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.754|0.754	-0.771858|-0.771858	0.02951|0.02951	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000448368|ENST00000440895	.|.	.|.	.|.	5.91|5.91	-2.64|-2.64	0.06114|0.06114	.|.	.|.	.|.	.|.	.|.	T|.	0.47948|.	0.1473|.	.|.	.|.	.|.	0.47153|0.47153	D|D	0.999336|0.999336	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42015|.	-0.9476|.	4|.	.|.	.|.	.|.	-29.2786|-29.2786	5.1477|5.1477	0.14993|0.14993	0.0677:0.3794:0.2736:0.2793|0.0677:0.3794:0.2736:0.2793	.|.	.|.	.|.	.|.	K|X	133|43	.|.	.|.	Q|S	-|-	1|2	0|0	LARP4B|LARP4B	851005|851005	0.111000|0.111000	0.22076|0.22076	0.092000|0.092000	0.20876|0.20876	0.195000|0.195000	0.23768|0.23768	-1.115000|-1.115000	0.03289|0.03289	-0.164000|-0.164000	0.10927|0.10927	0.655000|0.655000	0.94253|0.94253	CAG|TCA			0.592	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046395.2		NM_015155		T	861005	G	T	861005	2	4	44	1	0	0	0	0	0	0	0	1	8646	1277	45	3		3	LARP4B	10	861005	Silent	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		861005	134673742	22	3116											
IPMK	253430	mdanderson.org	37	chr10	59997522	59997522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccagctctcttgggccccTtggaggtggttgtaactgtt	4	15	12	10	0	1	0	0	0	1	0	3	1	2	1	3	4	2	4	3	4	1	6			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr10:59997522T>C	ENST00000373935.3	-	2	566	c.244A>G	c.(244-246)Agg>Ggg	p.R82G	snoU13_ENST00000458829.1_RNA	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	82					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						CTTGGGCCCCTTGGAGGTGGT	0.363																																					p.R82G													.	.			0			c.A244G												124	122	122					10																	59997522		2203	4300	6503	SO:0001583	missense	253430	exon2			GGCCCCTTGGAGG	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.244A>G	10.37:g.59997522T>C	ENSP00000363046:p.Arg82Gly		80	0	0		58	0.05	3	NM_152230	9	0	0		Missense_Mutation	SNP	ENST00000373935.3	37	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.755919	0.49362	.	.	ENSG00000151151	ENST00000373935	T	0.23147	1.92	5.8	1.8	0.24995	.	0.090520	0.64402	D	0.000001	T	0.41673	0.1169	M	0.85630	2.765	0.34856	D	0.742119	P	0.38597	0.639	P	0.46419	0.516	T	0.59526	-0.7438	9	.	.	.	-0.0354	13.3634	0.60669	0.0:0.0:0.5205:0.4795	.	82	Q8NFU5	IPMK_HUMAN	G	82	ENSP00000363046:R82G	.	R	-	1	2	IPMK	59667528	0.971000	0.33674	0.997000	0.53966	0.998000	0.95712	1.298000	0.33412	0.460000	0.27045	0.477000	0.44152	AGG			0.363	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048142.1		NM_152230		C	59997522	T	C	59997522	3	2	44	1	0	0	0	0	1	0	0	0	7807	1608	56	4	1026	4	IPMK	10	59997522	Missense_Mutation	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10	59136517	59997522	75537225	23	3117											
MKI67	4288	mdanderson.org	37	chr10	129914216	129914216	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtacctgaggatttccTgaaacttttccttcagtgat	10	16	7	8	0	1	3	1	3	0	0	3	4	3	4	3	1	2	1	3	1	3	6			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr10:129914216T>C	ENST00000368654.3	-	7	831	c.456A>G	c.(454-456)tcA>tcG	p.S152S	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	152					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)				GAGGATTTCCTGAAACTTTTC	0.378																																					p.S152S													.	.			0			c.A456G												153	151	152					10																	129914216		2203	4300	6503	SO:0001819	synonymous_variant	4288	exon7			ATTTCCTGAAACT	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.456A>G	10.37:g.129914216T>C			78	0.0128205128	1		35	0.09	3	NM_002417	12	0	0	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																					0.378	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000050999.1		NM_002417		C	129914216	T	C	129914216	2	2	44	1	0	0	0	0	0	0	0	1	9614	1567	55	4		4	MKI67	10	129914216	Silent	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10	69916694	129914216	5620531	24	3118											
SLC43A1	8501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	57254608	57254608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcccaccatcgccatgAaaagtggctgctgaagcaag	11	6	13	11	1	0	2	0	2	0	0	2	2	1	2	3	3	2	3	3	3	4	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:57254608A>G	ENST00000278426.3	-	14	1848	c.1493T>C	c.(1492-1494)tTc>tCc	p.F498S	SLC43A1_ENST00000528450.1_Missense_Mutation_p.F498S	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CATCGCCATGAAAAGTGGCTG	0.627																																					p.F498S													.	.			0			c.T1493C												78	63	68					11																	57254608		2201	4296	6497	SO:0001583	missense	8501	exon14			GCCATGAAAAGTG	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1493T>C	11.37:g.57254608A>G	ENSP00000278426:p.Phe498Ser		81	0	0		49	0.08	4	NM_001198810	471	0.21	101		Missense_Mutation	SNP	ENST00000278426.3	37	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592707	0.86953	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.59364	0.27;0.27	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);	0.057380	0.64402	D	0.000001	T	0.70150	0.3191	M	0.77616	2.38	0.53005	D	0.999969	P	0.49862	0.929	P	0.57468	0.821	T	0.68595	-0.5367	10	0.22706	T	0.39	-33.7013	13.6724	0.62434	1.0:0.0:0.0:0.0	.	498	O75387	LAT3_HUMAN	S	498	ENSP00000278426:F498S;ENSP00000435673:F498S	ENSP00000278426:F498S	F	-	2	0	SLC43A1	57011184	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	8.178000	0.89690	2.069000	0.61940	0.379000	0.24179	TTC			0.627	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392541.1		NM_003627		G	57254608	A	G	57254608	3	3	44	1	0	0	0	0	1	0	0	0	14655	246	9	4	194	4	SLC43A1	11	57254608	Missense_Mutation	SNP	A	TCGA-2G-AAH0-01A-11D-A42Y-10		57254608	77751908	25	3119											
OR4D10	390197	mdanderson.org	37	chr11	59245149	59245149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacagtgcccaaggttctgGtggaccttctgtctgaaaga	9	11	11	10	0	4	2	1	1	3	1	4	3	4	3	2	3	1	1	2	3	2	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:59245149G>T	ENST00000530162.1	+	1	304	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	83						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(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGGTTCTGGTGGACCTTCT	0.428																																					p.V83L													.	.			0			c.G247T												135	135	135					11																	59245149		2055	4211	6266	SO:0001583	missense	390197	exon1			GTTCTGGTGGACC	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.247G>T	11.37:g.59245149G>T	ENSP00000436424:p.Val83Leu		157	0	0		61	0.05	3	NM_001004705	0		0	B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	G	1.561	-0.536749	0.04082	.	.	ENSG00000254466	ENST00000530162	T	0.01981	4.52	4.27	-0.376	0.12505	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02342	0.0072	L	0.52126	1.63	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44483	-0.9325	9	0.38643	T	0.18	.	2.9034	0.05713	0.1757:0.3426:0.3615:0.1201	.	83	Q8NGI6	OR4DA_HUMAN	L	83	ENSP00000436424:V83L	ENSP00000436424:V83L	V	+	1	0	OR4D10	59001725	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-1.799000	0.01746	0.026000	0.15269	-0.291000	0.09656	GTG			0.428	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394235.1		NM_001004705		T	59245149	G	T	59245149	3	4	44	1	0	0	0	0	1	0	0	0	11071	1261	44	3	249	3	OR4D10	11	59245149	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	1990541	59245149	75761367	26	3120											
ZP1	22917	mdanderson.org	37	chr11	60642677	60642677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctctccggggccagtggGctttgaggattcttatgggc	5	11	16	9	1	2	1	0	1	2	0	3	3	2	2	2	5	1	2	2	5	1	3			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:60642677G>T	ENST00000278853.5	+	11	1730	c.1730G>T	c.(1729-1731)gGc>gTc	p.G577V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	577					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						GGGCCAGTGGGCTTTGAGGAT	0.607																																					p.G577V													.	.			0			c.G1730T												47	49	48					11																	60642677		2203	4299	6502	SO:0001583	missense	22917	exon11			CAGTGGGCTTTGA	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.1730G>T	11.37:g.60642677G>T	ENSP00000278853:p.Gly577Val		53	0	0		39	0.08	3	NM_207341	0		0		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136987	0.21123	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	T	0.22539	1.95	5.7	2.85	0.33270	.	0.599493	0.18039	N	0.153685	T	0.13200	0.0320	L	0.27053	0.805	0.47994	D	0.999568	B	0.15473	0.013	B	0.14023	0.01	T	0.08391	-1.0724	10	0.30854	T	0.27	-12.4434	7.4159	0.27044	0.253:0.0:0.747:0.0	.	577	P60852	ZP1_HUMAN	V	577;284	ENSP00000278853:G577V	ENSP00000278853:G577V	G	+	2	0	ZP1	60399253	0.998000	0.40836	0.997000	0.53966	0.949000	0.60115	0.437000	0.21543	0.769000	0.33313	0.655000	0.94253	GGC			0.607	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396329.1		NM_207341		T	60642677	G	T	60642677	3	4	44	1	0	0	0	0	1	0	0	0	18238	1203	42	2	1772	2	ZP1	11	60642677	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	1397528	60642677	74363839	27	3121											
PITPNM1	9600	mdanderson.org	37	chr11	67267769	67267769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgttgcacttggccatgCgctgggccagcatgcgagca	6	9	14	12	2	0	0	0	0	0	0	0	1	0	0	2	2	5	5	2	2	0	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:67267769C>T	ENST00000534749.1	-	5	952	c.764G>A	c.(763-765)cGc>cAc	p.R255H	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R255H|PITPNM1_ENST00000356404.3_Missense_Mutation_p.R255H			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	255					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						CTTGGCCATGCGCTGGGCCAG	0.687																																					p.R255H	GBM(28;144 709 4607 5525)												.	.			0			c.G764A												70	72	71					11																	67267769		2199	4291	6490	SO:0001583	missense	9600	exon6			GCCATGCGCTGGG	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.764G>A	11.37:g.67267769C>T	ENSP00000437286:p.Arg255His		61	0	0		49	0.06	3	NM_001130848	38	0	0	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298338	0.81025	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.42900	0.96;0.96;0.96	4.02	3.1	0.35709	START-like domain (1);	0.152044	0.30584	N	0.009309	T	0.30665	0.0772	N	0.08118	0	0.34701	D	0.726782	D;D	0.65815	0.994;0.995	P;P	0.56088	0.781;0.791	T	0.41233	-0.9520	10	0.72032	D	0.01	-24.1027	4.6015	0.12356	0.0:0.7164:0.0:0.2836	.	255;255	O00562-2;O00562	.;PITM1_HUMAN	H	255	ENSP00000437286:R255H;ENSP00000398787:R255H;ENSP00000348772:R255H	ENSP00000348772:R255H	R	-	2	0	PITPNM1	67024345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.515000	0.60489	2.256000	0.74724	0.555000	0.69702	CGC			0.687	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395520.1		NM_004910		T	67267769	C	T	67267769	3	4	44	1	0	0	0	0	1	0	0	0	11967	768	27	1	3046	1	PITPNM1	11	67267769	Missense_Mutation	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10	6625092	67267769	67738747	28	3122											
CNTN5	53942	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	100211902	100211902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggctgggaacccgtcataCcattagccaacgaatctgaa	12	8	10	11	2	2	1	1	1	1	0	2	3	2	2	3	2	4	1	3	2	6	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:100211902C>A	ENST00000524871.1	+	23	3285	c.2995C>A	c.(2995-2997)Cca>Aca	p.P999T	CNTN5_ENST00000418526.2_Missense_Mutation_p.P925T|CNTN5_ENST00000279463.3_Missense_Mutation_p.P999T|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.P999T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	999	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCCGTCATACCATTAGCCAA	0.438																																					p.P999T													CNTN5_ENST00000524871,bladder,carcinoma,-2,2	CNTN5_ENST00000524871	-2	2	0			c.C2995A												145	144	145					11																	100211902		1873	4110	5983	SO:0001583	missense	53942	exon22			GTCATACCATTAG	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2995C>A	11.37:g.100211902C>A	ENSP00000435637:p.Pro999Thr		272	0	0		114	0.09	10	NM_001243270	0		0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	4.595	0.110522	0.08780	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.46	4.54	0.55810	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.167028	0.53938	D	0.000051	T	0.63838	0.2545	L	0.41824	1.3	0.42835	D	0.994038	B;P	0.34462	0.4;0.454	B;B	0.34931	0.085;0.192	T	0.60464	-0.7258	9	.	.	.	.	9.9005	0.41344	0.0:0.8431:0.0:0.1569	.	925;999	O94779-2;O94779	.;CNTN5_HUMAN	T	999;999;925;999	ENSP00000436185:P999T;ENSP00000435637:P999T;ENSP00000393229:P925T;ENSP00000279463:P999T	.	P	+	1	0	CNTN5	99717112	1.000000	0.71417	0.077000	0.20336	0.386000	0.30323	1.859000	0.39418	1.283000	0.44513	0.655000	0.94253	CCA			0.438	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395148.2		NM_014361		A	100211902	C	A	100211902	3	1	44	1	0	0	0	0	1	0	0	0	3646	507	18	3	3077	3	CNTN5	11	100211902	Missense_Mutation	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10	32944133	100211902	34794614	29	3123											
ARHGEF12	23365	mdanderson.org	37	chr11	120302598	120302598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcagtggagatgcttctcGgcccagtagtgacaatgcag	10	9	13	9	1	1	2	0	1	1	1	2	3	1	2	1	2	3	4	1	2	3	3			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:120302598G>T	ENST00000397843.2	+	11	1068	c.902G>T	c.(901-903)cGg>cTg	p.R301L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R282L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R198L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	301					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GATGCTTCTCGGCCCAGTAGT	0.443			T	MLL	AML																																p.R301L				Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.			0			c.G902T												137	132	134					11																	120302598		1923	4127	6050	SO:0001583	missense	23365	exon11			CTTCTCGGCCCAG	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.902G>T	11.37:g.120302598G>T	ENSP00000380942:p.Arg301Leu		116	0	0		47	0.06	3	NM_015313	11	0	0	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921162	0.33908	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.67345	-0.15;-0.26;-0.15	5.54	5.54	0.83059	.	0.000000	0.38959	N	0.001502	T	0.63663	0.2530	L	0.56769	1.78	0.49687	D	0.999816	B;B;B	0.17667	0.001;0.023;0.013	B;B;B	0.22753	0.002;0.041;0.018	T	0.59091	-0.7519	10	0.11182	T	0.66	-7.3865	18.4097	0.90548	0.0:0.0:1.0:0.0	.	198;282;301	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	301;282;198	ENSP00000380942:R301L;ENSP00000349056:R282L;ENSP00000432984:R198L	ENSP00000349056:R282L	R	+	2	0	ARHGEF12	119807808	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.113000	0.71553	2.760000	0.94817	0.591000	0.81541	CGG			0.443	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388052.1		NM_015313		T	120302598	G	T	120302598	3	4	44	1	0	0	0	0	1	0	0	0	897	1116	39	1	944	1	ARHGEF12	11	120302598	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	20090696	120302598	14703918	30	3124											
PPFIA2	8499	mdanderson.org	37	chr12	81671111	81671111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaccttttatttcatgttGgcttgcttcccgtcttcttt	4	22	5	10	1	3	0	1	0	2	0	4	0	4	0	2	1	2	3	2	1	2	9			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr12:81671111G>T	ENST00000549396.1	-	28	3455	c.3295C>A	c.(3295-3297)Caa>Aaa	p.Q1099K	PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q946K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q998K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q994K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q1084K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.Q1099K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q1078K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q1087K|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541570.2_Missense_Mutation_p.Q635K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.Q285K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q1093K	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1099					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTTCATGTTGGCTTGCTTCC	0.279																																					p.Q1099K													.	.			0			c.C3295A												130	119	122					12																	81671111		1802	4058	5860	SO:0001583	missense	8499	exon28			CATGTTGGCTTGC	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3295C>A	12.37:g.81671111G>T	ENSP00000450337:p.Gln1099Lys		81	0	0		45	0.07	3	NM_003625	0		0	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900464	0.92035	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;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;1.0	5.95	5.95	0.96441	Sterile alpha motif/pointed domain (2);	0.136485	0.51477	D	0.000096	T	0.64080	0.2566	M	0.84948	2.725	0.80722	D	1	P	0.49696	0.927	P	0.52856	0.711	T	0.67110	-0.5753	10	0.56958	D	0.05	-20.7406	19.9836	0.97340	0.0:0.0:1.0:0.0	.	1099	O75334	LIPA2_HUMAN	K	1099;1084;635;285;998;1110;1087;1093;994;1078	ENSP00000450337:Q1099K;ENSP00000450298:Q1084K;ENSP00000438337:Q635K;ENSP00000445532:Q285K;ENSP00000385093:Q998K;ENSP00000327416:Q1087K;ENSP00000449338:Q1093K;ENSP00000388373:Q994K;ENSP00000447868:Q1078K	ENSP00000327416:Q1087K	Q	-	1	0	PPFIA2	80195242	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.429000	0.97481	2.824000	0.97209	0.655000	0.94253	CAA			0.279	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408030.1				T	81671111	G	T	81671111	3	4	44	1	0	0	0	0	1	0	0	0	12327	1357	47	3	498	3	PPFIA2	12	81671111	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		81671111	52180784	31	3125											
DDX24	57062	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	94545823	94545823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgagctagactttcccTcctcctcctcctcttcttct	3	17	5	16	0	3	2	0	1	3	1	8	2	8	2	5	1	1	1	5	1	1	5			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr14:94545823T>C	ENST00000330836.5	-	2	397	c.266A>G	c.(265-267)gAg>gGg	p.E89G	IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.E46G|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000556381.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AGACTTTCCCTCCTCCTCCTC	0.438																																					p.E89G													.	DDX24	82		0			c.A266G												169	164	166					14																	94545823		2203	4300	6503	SO:0001583	missense	57062	exon2			TTTCCCTCCTCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266A>G	14.37:g.94545823T>C	ENSP00000328690:p.Glu89Gly		148	0.0067567568	1		119	0.06	7	NM_020414	325	0	0	E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	T	6.591	0.477437	0.12521	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.04194	3.68;3.74	0.432	0.432	0.16529	.	0.433874	0.28476	N	0.015210	T	0.04272	0.0118	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35025	-0.9805	9	0.39692	T	0.17	-28.5288	.	.	.	.	89	Q9GZR7	DDX24_HUMAN	G	89;89;46;46	ENSP00000328690:E89G;ENSP00000452145:E46G	ENSP00000328690:E89G	E	-	2	0	DDX24	93615576	0.969000	0.33509	0.684000	0.30055	0.939000	0.58152	0.118000	0.15605	0.420000	0.25954	0.102000	0.15555	GAG			0.438	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412861.1		NM_020414		C	94545823	T	C	94545823	3	2	44	1	0	0	0	0	1	0	0	0	4353	1551	54	4	2345	4	DDX24	14	94545823	Missense_Mutation	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10		94545823	12803717	32	3126											
SV2B	9899	mdanderson.org	37	chr15	91809917	91809917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagattcaagaccattttcAagcaggtatgattgggaact	13	12	9	7	0	3	3	3	1	0	2	3	4	3	4	1	2	2	2	1	2	4	5			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr15:91809917A>G	ENST00000394232.1	+	7	1584	c.1114A>G	c.(1114-1116)Aag>Gag	p.K372E	SV2B_ENST00000545111.2_Missense_Mutation_p.K221E|SV2B_ENST00000330276.4_Missense_Mutation_p.K372E	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	372					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GACCATTTTCAAGCAGGTATG	0.448																																					p.K372E													.	.			0			c.A1114G												58	56	57					15																	91809917		2198	4298	6496	SO:0001583	missense	9899	exon8			ATTTTCAAGCAGG	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1114A>G	15.37:g.91809917A>G	ENSP00000377779:p.Lys372Glu		66	0	0		46	0.07	3	NM_014848	1	0	0	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	A	5.997	0.367866	0.11352	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.62105	0.05;0.05;0.05	5.3	5.3	0.74995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.090109	0.85682	D	0.000000	T	0.59582	0.2204	M	0.62723	1.935	0.52099	D	0.999942	B	0.19935	0.04	B	0.29440	0.102	T	0.55218	-0.8175	10	0.12103	T	0.63	-27.1952	14.0585	0.64786	1.0:0.0:0.0:0.0	.	372	Q7L1I2	SV2B_HUMAN	E	221;372;372	ENSP00000443243:K221E;ENSP00000377779:K372E;ENSP00000332818:K372E	ENSP00000332818:K372E	K	+	1	0	SV2B	89610921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.585000	0.67497	1.995000	0.58328	0.533000	0.62120	AAG			0.448	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313494.3		NM_014848		G	91809917	A	G	91809917	3	3	44	1	0	0	0	0	1	0	0	0	15441	131	5	4	1136	4	SV2B	15	91809917	Missense_Mutation	SNP	A	TCGA-2G-AAH0-01A-11D-A42Y-10		91809917	10721475	33	3127											
TTC23	64927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	99740253	99740253	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaacatattccaaagctgcTtgatagtgggacaaagcttc	13	11	8	9	0	1	1	1	1	0	0	3	2	2	2	1	1	4	3	1	1	5	5			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr15:99740253T>C	ENST00000394132.2	-	9	1447	c.630A>G	c.(628-630)caA>caG	p.Q210Q	TTC23_ENST00000394130.1_Silent_p.Q210Q|TTC23_ENST00000558613.1_Silent_p.Q210Q|TTC23_ENST00000558663.1_Silent_p.Q210Q|TTC23_ENST00000394135.3_Silent_p.Q210Q|TTC23_ENST00000262074.4_Silent_p.Q210Q|TTC23_ENST00000394136.1_Silent_p.Q210Q|TTC23_ENST00000394129.2_Silent_p.Q210Q			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	210										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CCAAAGCTGCTTGATAGTGGG	0.363																																					p.Q210Q													.	.			0			c.A630G												188	169	176					15																	99740253		2197	4297	6494	SO:0001819	synonymous_variant	64927	exon7			AGCTGCTTGATAG		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.630A>G	15.37:g.99740253T>C			147	0	0		74	0.24	18	NM_001040657	5	0.4	2	A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Silent	SNP	ENST00000394132.2	37	CCDS10379.2																																																																																					0.363	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000303953.2		NM_022905		C	99740253	T	C	99740253	2	2	44	1	0	0	0	0	0	0	0	1	16714	1606	56	4		4	TTC23	15	99740253	Silent	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10	7930336	99740253	2791139	34	3128											
PPL	5493	mdanderson.org	37	chr16	4949240	4949240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcatactggcgccggCggctggggtagtcgaggttg	5	8	16	12	4	1	0	1	0	0	0	2	1	1	0	3	6	1	3	3	6	2	3	rs61734749	byFrequency	TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr16:4949240C>T	ENST00000345988.2	-	7	841	c.752G>A	c.(751-753)cGc>cAc	p.R251H	PPL_ENST00000590782.2_Missense_Mutation_p.R249H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	251					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						CTGGCGCCGGCGGCTGGGGTA	0.672													C|||	53	0.0105831	0.0401	0	5008	,	,		16057	0		0	False		,,,				2504	0				p.R251H													.	.			0			c.G752A							C	HIS/ARG	106,4288	82.9+/-121.4	1,104,2092	38	36	37		752	5.2	1	16	dbSNP_129	37	5,8595	4.3+/-15.6	0,5,4295	yes	missense	PPL	NM_002705.4	29	1,109,6387	TT,TC,CC		0.0581,2.4124,0.8542	probably-damaging	251/1757	4949240	111,12883	2197	4300	6497	SO:0001583	missense	5493	exon7			CGCCGGCGGCTGG	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.752G>A	16.37:g.4949240C>T	ENSP00000340510:p.Arg251His		49	0	0		51	0.06	3	NM_002705	2	0	0	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	C	29.1	4.978303	0.92982	0.024124	5.81E-4	ENSG00000118898	ENST00000345988	D	0.92647	-3.08	5.25	5.25	0.73442	.	0.065053	0.64402	D	0.000006	T	0.82217	0.4989	L	0.55481	1.735	0.80722	D	1	D	0.57571	0.98	P	0.46339	0.513	D	0.86311	0.1686	10	0.45353	T	0.12	.	18.4656	0.90753	0.0:1.0:0.0:0.0	.	251	O60437	PEPL_HUMAN	H	251	ENSP00000340510:R251H	ENSP00000340510:R251H	R	-	2	0	PPL	4889241	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.724000	0.84798	2.459000	0.83118	0.561000	0.74099	CGC	0.009		0.672	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251715.1		NM_002705		T	4949240	C	T	4949240	3	4	44	1	0	0	0	0	1	0	0	0	12354	768	27	1	4582	1	PPL	16	4949240	Missense_Mutation	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10		4949240	85405513	35	3129											
DNAH3	55567	mdanderson.org	37	chr16	21132080	21132080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccattgcagtggcagcCgcgtgcatgctgggctctcc	4	9	13	15	2	1	0	0	0	1	0	2	0	1	0	4	2	5	5	4	2	0	1			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr16:21132080C>T	ENST00000261383.3	-	11	1679	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A	DNAH3_ENST00000415178.1_Silent_p.A560A|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	560	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)		CAGTGGCAGCCGCGTGCATGC	0.502																																					p.A560A													DNAH3_ENST00000261383,bladder,carcinoma,-2,4	DNAH3_ENST00000261383	-2	4	0			c.G1680A												66	58	61					16																	21132080		2201	4300	6501	SO:0001819	synonymous_variant	55567	exon11			GGCAGCCGCGTGC	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.1680G>A	16.37:g.21132080C>T			74	0	0		30	0.07	2	NM_017539	0		0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																					0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207361.1		NM_017539		T	21132080	C	T	21132080	2	4	44	1	0	0	0	0	0	0	0	1	4608	639	23	1		1	DNAH3	16	21132080	Silent	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10	16182840	21132080	69222673	36	3130											
ARMC5	79798	mdanderson.org	37	chr16	31470916	31470916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagctcgcggcggcggccgGggaggctctgggtggggaaa	5	4	22	10	5	1	0	0	0	1	0	2	2	1	2	1	9	1	3	1	9	1	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr16:31470916G>T	ENST00000563544.1	+	2	617	c.71G>T	c.(70-72)gGg>gTg	p.G24V	ARMC5_ENST00000408912.3_Missense_Mutation_p.G119V|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000268314.4_Missense_Mutation_p.G24V|ARMC5_ENST00000457010.2_Missense_Mutation_p.G24V|ARMC5_ENST00000538189.1_Missense_Mutation_p.G56V|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	24										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCGGCGGCCGGGGAGGCTCTG	0.716																																					p.G24V													.	.			0			c.G71T												10	16	14					16																	31470916		1900	4090	5990	SO:0001583	missense	79798	exon1			CGGCCGGGGAGGC	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.71G>T	16.37:g.31470916G>T	ENSP00000456877:p.Gly24Val		23	0	0		22	0.09	2	NM_001105247	3	0	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	g	16.10	3.028091	0.54790	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.62	1.29	0.21616	.	.	.	.	.	T	0.25306	0.0615	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B	0.19331	0.004;0.004;0.008;0.003;0.035	B;B;B;B;B	0.20767	0.012;0.012;0.012;0.012;0.031	T	0.05869	-1.0859	9	0.28530	T	0.3	.	3.5587	0.07874	0.2134:0.0:0.4976:0.289	.	56;56;119;24;24	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	V	119;56;24;24	ENSP00000386125:G119V;ENSP00000443995:G56V;ENSP00000268314:G24V;ENSP00000399561:G24V	ENSP00000268314:G24V	G	+	2	0	ARMC5	31378417	0.971000	0.33674	1.000000	0.80357	0.988000	0.76386	1.038000	0.30254	0.564000	0.29238	0.655000	0.94253	GGG			0.716	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432847.1		NM_024742		T	31470916	G	T	31470916	3	4	44	1	0	0	0	0	1	0	0	0	954	1232	43	3	73	3	ARMC5	16	31470916	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	10338836	31470916	58883837	37	3131											
HSF4	3299	mdanderson.org	37	chr16	67201672	67201672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccggccagtccaggggggGatggcgaggccgggctggcc	5	3	21	12	3	0	0	0	0	0	0	1	2	1	1	5	8	1	1	5	8	0	0	rs568361323		TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr16:67201672G>T	ENST00000521374.1	+	9	904	c.904G>T	c.(904-906)Gat>Tat	p.D302Y	NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.D302Y|HSF4_ENST00000421453.1_Intron|HSF4_ENST00000584272.1_Intron|NOL3_ENST00000432069.2_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	302	Interactions with DUSP26, MAPK1 and MAPK2.				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)		TCCAGGGGGGGATGGCGAGGC	0.647																																					p.D302Y													HSF4,NS,carcinoma,-2,1	HSF4	-2	1	0			c.G904T												13	19	17					16																	67201672		1891	4099	5990	SO:0001583	missense	3299	exon11			GGGGGGGATGGCG	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.904G>T	16.37:g.67201672G>T	ENSP00000430947:p.Asp302Tyr		52	0	0		29	0.1	3	NM_001040667	0		0	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519607	0.44866	.	.	ENSG00000102878	ENST00000264009;ENST00000521374	.	.	.	4.98	1.56	0.23342	.	0.812183	0.11595	N	0.548352	T	0.26629	0.0651	N	0.22421	0.69	0.80722	D	1	P	0.34462	0.454	B	0.27887	0.084	T	0.13575	-1.0504	9	0.59425	D	0.04	-1.2279	3.1106	0.06357	0.3437:0.2208:0.4355:0.0	.	302	Q9ULV5	HSF4_HUMAN	Y	302	.	ENSP00000264009:D302Y	D	+	1	0	HSF4	65759173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.798000	0.27014	0.565000	0.29255	0.561000	0.74099	GAT			0.647	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375080.1		NM_001538		T	67201672	G	T	67201672	3	4	44	1	0	0	0	0	1	0	0	0	7413	1174	41	3	952	3	HSF4	16	67201672	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	35730756	67201672	23153081	38	3132											
PLSCR3	100529211	mdanderson.org	37	chr17	7296551	7296551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccggggtcggccaggCggacacgcagcggccggcgg	4	2	20	15	7	0	0	0	0	0	0	2	1	1	1	4	9	1	1	4	9	0	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr17:7296551C>T	ENST00000576362.1	-	4	576	c.419G>A	c.(418-420)cGc>cAc	p.R140H	TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.R140H|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.R140H|TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.R140H|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.R140H					TMEM256-PLSCR3 readthrough (NMD candidate)																		GTCGGCCAGGCGGACACGCAG	0.751																																					p.R140H													.	.			0			c.G419A												5	8	7					17																	7296551		1623	3569	5192	SO:0001583	missense	57048	exon5			GCCAGGCGGACAC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.419G>A	17.37:g.7296551C>T	ENSP00000460800:p.Arg140His		20	0	0		20	0.15	3	NM_020360	34	0	0		Missense_Mutation	SNP	ENST00000576362.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.098425|4.098425	0.76870|0.76870	.|.	.|.	ENSG00000187838|ENSG00000187838	ENST00000380658|ENST00000535512;ENST00000324822	.|T;T	.|0.23348	.|1.91;1.91	5.64|5.64	4.67|4.67	0.58626|0.58626	.|.	.|0.111999	.|0.64402	.|D	.|0.000009	T|T	0.29524|0.29524	0.0736|0.0736	N|N	0.17674|0.17674	0.51|0.51	0.27152|0.27152	N|N	0.961386|0.961386	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.63877	.|0.919;0.919	T|T	0.05954|0.05954	-1.0854|-1.0854	6|10	0.66056|0.52906	D|T	0.02|0.07	-24.5148|-24.5148	8.1375|8.1375	0.31063|0.31063	0.0:0.7574:0.1585:0.0841|0.0:0.7574:0.1585:0.0841	.|.	.|140;195	.|Q9NRY6;D3DTP7	.|PLS3_HUMAN;.	T|H	140|140	.|ENSP00000438547:R140H;ENSP00000316021:R140H	ENSP00000370033:A140T|ENSP00000316021:R140H	A|R	-|-	1|2	0|0	PLSCR3|PLSCR3	7237275|7237275	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.869000|0.869000	0.49853|0.49853	2.845000|2.845000	0.48254|0.48254	1.399000|1.399000	0.46721|0.46721	0.591000|0.591000	0.81541|0.81541	GCC|CGC			0.751	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000440808.1				T	7296551	C	T	7296551	3	4	44	1	0	0	0	0	1	0	0	0	12128	768	27	1	484	1	PLSCR3	17	7296551	Missense_Mutation	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10		7296551	73898659	39	3133											
CUEDC1	404093	broad.mit.edu	37	chr17	55962851	55962851	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggggcggccgtgccTcccccgcccccgcgtgcccc	0	5	14	22	5	0	0	0	0	0	0	2	0	2	0	9	4	2	0	9	4	0	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr17:55962851T>C	ENST00000577830.1	-	2	488	c.75A>G	c.(73-75)ggA>ggG	p.G25G	CUEDC1_ENST00000360238.2_Silent_p.G25G|CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000407144.2_Silent_p.G25G	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	25										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						cggccgtgcctcccccgcccc	0.706																																					p.G25G													.	CUEDC1	37		0			c.A75G												11	14	13					17																	55962851		2171	4267	6438	SO:0001819	synonymous_variant	404093	exon2			CGTGCCTCCCCCG	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.75A>G	17.37:g.55962851T>C			25	0.28	7		34	0.29	10	NM_001271875	2	0	0	D3DTZ2|Q9NWD0	Silent	SNP	ENST00000577830.1	37	CCDS11599.1																																																																																					0.706	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443305.1		NM_017949		C	55962851	T	C	55962851	2	2	44	1	0	0	0	0	0	0	0	1	4054	1538	54	4		4	CUEDC1	17	55962851	Silent	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10	48666300	55962851	25232359	40	3134											
MIER2	54531	broad.mit.edu	37	chr19	327235	327235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttcttcccctgaaaGcaaatccttcgctatttgtt	7	17	4	13	1	2	1	0	1	2	0	6	1	5	1	4	0	1	3	4	0	3	7			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:327235G>A	ENST00000264819.4	-	5	401	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	131					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)		TCCCCTGAAAGCAAATCCTTC	0.433																																					p.L131F													.	MIER2	51		0			c.C391T												228	219	222					19																	327235		2203	4300	6503	SO:0001583	missense	54531	exon5			CTGAAAGCAAATC	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.391C>T	19.37:g.327235G>A	ENSP00000264819:p.Leu131Phe		101	0.0594059406	6		95	0.12	11	NM_017550	202	0	0	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.513315	0.64522	.	.	ENSG00000105556	ENST00000264819	T	0.36157	1.27	5.14	4.1	0.47936	.	0.000000	0.43416	D	0.000567	T	0.37758	0.1015	M	0.63428	1.95	0.49130	D	0.999756	P	0.44044	0.825	B	0.41764	0.366	T	0.33727	-0.9857	10	0.72032	D	0.01	-16.4891	11.2349	0.48933	0.0846:0.0:0.9154:0.0	.	131	Q8N344	MIER2_HUMAN	F	131	ENSP00000264819:L131F	ENSP00000264819:L131F	L	-	1	0	MIER2	278235	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.015000	0.64035	1.173000	0.42796	0.555000	0.69702	CTT			0.433	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451784.1		XM_041843		A	327235	G	A	327235	3	1	44	1	0	0	0	0	1	0	0	0	9597	971	34	2	1286	2	MIER2	19	327235	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		327235	58801748	41	3135											
SEMA6B	10501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	4546434	4546434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctgaggaagatgcaggagCcgtcgggggcccacccgcag	8	3	18	12	3	0	2	0	1	0	1	1	4	0	4	3	5	2	3	3	5	1	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:4546434C>T	ENST00000586582.1	-	15	1959	c.1649G>A	c.(1648-1650)gGc>gAc	p.G550D	SEMA6B_ENST00000586965.1_Missense_Mutation_p.G550D|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G550D	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	550					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)		GATGCAGGAGCCGTCGGGGGC	0.627																																					p.G550D													.	.			0			c.G1649A												20	21	21					19																	4546434		2198	4294	6492	SO:0001583	missense	10501	exon15			CAGGAGCCGTCGG	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.1649G>A	19.37:g.4546434C>T	ENSP00000467290:p.Gly550Asp		98	0	0		122	0.06	7	NM_032108	130	0.15	19	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.027569	0.35797	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.20738	2.05	3.66	3.66	0.41972	.	0.316061	0.29508	U	0.011946	T	0.15696	0.0378	L	0.28115	0.83	0.32870	D	0.509107	B	0.15719	0.014	B	0.21546	0.035	T	0.10636	-1.0621	10	0.56958	D	0.05	.	11.0624	0.47955	0.0:1.0:0.0:0.0	.	550	Q9H3T3	SEM6B_HUMAN	D	550	ENSP00000301293:G550D	ENSP00000301292:G550D	G	-	2	0	SEMA6B	4497434	0.998000	0.40836	0.962000	0.40283	0.470000	0.32858	4.706000	0.61845	2.052000	0.61016	0.484000	0.47621	GGC			0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458656.2		NM_032108		T	4546434	C	T	4546434	3	4	44	1	0	0	0	0	1	0	0	0	14063	739	26	2	1029	2	SEMA6B	19	4546434	Missense_Mutation	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10	4219199	4546434	54582549	42	3136											
TIMM44	10469	broad.mit.edu	37	chr19	7998441	7998441	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtccttgtgcagcacgAcccccagggcctccctgggg	5	7	14	15	1	0	0	0	0	0	0	2	2	2	1	5	4	2	2	5	4	0	1			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:7998441A>C	ENST00000270538.3	-	7	966	c.698T>G	c.(697-699)gTc>gGc	p.V233G	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	233					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTGCAGCACGACCCCCAGGGC	0.652																																					p.V233G													.	TIMM44	47		0			c.T698G												188	179	182					19																	7998441		2203	4300	6503	SO:0001583	missense	10469	exon7			AGCACGACCCCCA	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.698T>G	19.37:g.7998441A>C	ENSP00000270538:p.Val233Gly		159	0.0691823899	11		226	0.11	25	NM_006351	220	0	1	A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219949	0.79464	.	.	ENSG00000104980	ENST00000270538	T	0.80994	-1.44	5.0	5.0	0.66597	.	0.176011	0.48767	D	0.000175	D	0.87869	0.6286	M	0.87097	2.86	0.80722	D	1	D	0.53619	0.961	P	0.54629	0.757	D	0.89952	0.4080	10	0.87932	D	0	-39.2763	12.6414	0.56712	1.0:0.0:0.0:0.0	.	233	O43615	TIM44_HUMAN	G	233	ENSP00000270538:V233G	ENSP00000270538:V233G	V	-	2	0	TIMM44	7904441	0.996000	0.38824	0.974000	0.42286	0.849000	0.48306	8.559000	0.90708	1.892000	0.54788	0.459000	0.35465	GTC			0.652	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461596.3				C	7998441	A	C	7998441	3	2	44	1	0	0	0	0	1	0	0	0	15935	275	10	4	688	4	TIMM44	19	7998441	Missense_Mutation	SNP	A	TCGA-2G-AAH0-01A-11D-A42Y-10	3452007	7998441	51130542	43	3137											
RFX1	5989	mdanderson.org	37	chr19	14091461	14091461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgcccgtgggggccccgGctgtcttgctggaagagctg	3	9	17	12	2	1	1	0	0	1	1	1	2	1	2	3	4	3	3	3	4	1	1			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:14091461G>A	ENST00000254325.4	-	6	896	c.662C>T	c.(661-663)gCc>gTc	p.A221V		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	221					immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGGGGCCCCGGCTGTCTTGCT	0.672																																					p.A221V													.	.			0			c.C662T												30	29	29					19																	14091461		2198	4297	6495	SO:0001583	missense	5989	exon6			GCCCCGGCTGTCT		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.662C>T	19.37:g.14091461G>A	ENSP00000254325:p.Ala221Val		25	0	0		26	0.12	3	NM_002918	17	0	0		Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	9.014	0.983222	0.18889	.	.	ENSG00000132005	ENST00000254325	T	0.33438	1.41	3.98	2.93	0.34026	RFX1 transcription activation region (1);	0.178108	0.34700	N	0.003741	T	0.17619	0.0423	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.35182	0.197	T	0.19679	-1.0298	10	0.49607	T	0.09	-14.174	7.1129	0.25401	0.0:0.1911:0.6115:0.1974	.	221	P22670	RFX1_HUMAN	V	221	ENSP00000254325:A221V	ENSP00000254325:A221V	A	-	2	0	RFX1	13952461	0.206000	0.23470	0.079000	0.20413	0.043000	0.13939	2.007000	0.40883	1.247000	0.43917	0.655000	0.94253	GCC			0.672	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458510.1		NM_002918		A	14091461	G	A	14091461	3	1	44	1	0	0	0	0	1	0	0	0	13285	1203	42	2	2341	2	RFX1	19	14091461	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	6093020	14091461	45037522	44	3138											
ARHGAP33	115703	broad.mit.edu	37	chr19	36268760	36268760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggccccttcccgcggctgGctgactgcgcccatttccac	4	8	11	18	3	0	1	0	1	0	0	2	2	2	1	5	3	1	2	5	3	0	2			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:36268760G>A	ENST00000007510.4	+	3	283	c.139G>A	c.(139-141)Gct>Act	p.A47T	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A47T|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000378944.5_De_novo_Start_OutOfFrame			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	47					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCGCGGCTGGCTGACTGCGC	0.592																																					p.A47T													.	ARHGAP33	102		0			c.G139A												89	92	91					19																	36268760		2203	4300	6503	SO:0001583	missense	115703	exon3			CGGCTGGCTGACT	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.139G>A	19.37:g.36268760G>A	ENSP00000007510:p.Ala47Thr		170	0	0		156	0.03	4	NM_052948	29	0	0	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Translation_Start_Site	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	G	19.92	3.916475	0.73098	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000221905	T;T	0.11495	3.13;2.77	5.09	5.09	0.68999	.	0.259028	0.29853	N	0.011030	T	0.16128	0.0388	L	0.47190	1.495	0.44619	D	0.997596	P;P	0.46142	0.873;0.859	B;P	0.48677	0.319;0.586	T	0.00303	-1.1833	10	0.49607	T	0.09	.	11.9507	0.52954	0.0854:0.0:0.9146:0.0	.	65;47	O14559-12;O14559-11	.;.	T	47;47;65	ENSP00000007510:A47T;ENSP00000320038:A47T	ENSP00000007510:A47T	A	+	1	0	ARHGAP33	40960600	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.636000	0.67848	2.549000	0.85964	0.556000	0.70494	GCT			0.592	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding				NM_052948		A	36268760	G	A	36268760	3	1	44	1	0	0	0	0	1	0	0	0	882	1203	42	2	149	2	ARHGAP33	19	36268760	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	22177299	36268760	22860223	45	3139											
SYMPK	8189	broad.mit.edu	37	chr19	46319285	46319285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggagagggagagggggAggaagaggagggggctccca	11	1	23	6	2	0	3	0	0	0	3	1	9	1	6	1	8	0	1	1	8	1	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:46319285A>G	ENST00000245934.7	-	26	3755	c.3511T>C	c.(3511-3513)Tcc>Ccc	p.S1171P	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1171	Poly-Ser.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ggagagggggaggaagaggAG	0.682																																					p.S1171P													.	SYMPK	104		0			c.T3511C												5	6	5					19																	46319285		2072	4045	6117	SO:0001583	missense	8189	exon26			AGGGGGAGGAAGA	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3511T>C	19.37:g.46319285A>G	ENSP00000245934:p.Ser1171Pro		115	0.0260869565	3		125	0.04	5	NM_004819	339	0.01	3	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	A	6.550	0.469664	0.12461	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.12	-1.94	0.07571	.	1.419830	0.04997	N	0.468439	T	0.23766	0.0575	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19549	-1.0302	9	0.42905	T	0.14	.	4.3748	0.11265	0.3456:0.333:0.3214:0.0	.	1171	Q92797	SYMPK_HUMAN	P	1171	.	ENSP00000245934:S1171P	S	-	1	0	SYMPK	51011125	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.016000	0.03633	-0.292000	0.08999	0.386000	0.25728	TCC			0.682	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316581.1		NM_004819		G	46319285	A	G	46319285	3	3	44	1	0	0	0	0	1	0	0	0	15462	304	11	4	321	4	SYMPK	19	46319285	Missense_Mutation	SNP	A	TCGA-2G-AAH0-01A-11D-A42Y-10	10050525	46319285	12809698	46	3140											
SIRPA	140885	mdanderson.org	37	chr20	1876144	1876144	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggccgctgctctgcctGctgctcgccgcgtcctgcgc	0	9	13	19	6	1	0	0	0	1	0	4	0	2	0	4	1	5	4	4	1	0	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr20:1876144G>T	ENST00000358771.4	+	1	203	c.51G>T	c.(49-51)ctG>ctT	p.L17L	SIRPA_ENST00000356025.3_Silent_p.L17L|SIRPA_ENST00000400068.3_Silent_p.L17L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	17					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGCTCTGCCTGCTGCTCGCCG	0.766																																					p.L17L	GBM(155;1668 1920 5945 42733 48121)												.	.			0			c.G51T												1	1	1					20																	1876144		905	1736	2641	SO:0001819	synonymous_variant	140885	exon2			CTGCCTGCTGCTC	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.51G>T	20.37:g.1876144G>T			30	0	0		27	0.07	2	NM_001040022	8	0	0	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	CCDS13022.1																																																																																					0.766	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000077568.2		NM_080792		T	1876144	G	T	1876144	2	4	44	1	0	0	0	0	0	0	0	1	14355	1306	46	2		2	SIRPA	20	1876144	Silent	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		1876144	61149376	47	3141											
PANK2	80025	mdanderson.org	37	chr20	3888898	3888898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccactggaggtggagcGtacaaatttgagcaggattt	10	11	14	6	1	0	1	0	1	0	0	0	4	0	4	1	4	4	2	1	4	2	3	rs78631398	byFrequency	TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr20:3888898G>A	ENST00000316562.4	+	2	960	c.954G>A	c.(952-954)gcG>gcA	p.A318A	PANK2_ENST00000610179.1_Silent_p.A195A|PANK2_ENST00000497424.1_Silent_p.A27A	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	318					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGTGGAGCGTACAAATTTG	0.383													G|||	6	0.00119808	8e-04	0	5008	,	,		20863	0		0	False		,,,				2504	0.0051				p.A318A													.	.			0			c.G954A												92	87	88					20																	3888898		2203	4300	6503	SO:0001819	synonymous_variant	80025	exon2			TGGAGCGTACAAA	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.954G>A	20.37:g.3888898G>A			43	0	0		33	0.09	3	NM_153638	46	0	0	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	CCDS13071.2																																																																																			0.001		0.383	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000077793.2		NM_024960		A	3888898	G	A	3888898	2	1	44	1	0	0	0	0	0	0	0	1	11434	1132	40	1		1	PANK2	20	3888898	Silent	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	2012754	3888898	59136622	48	3142											
PAX1	5075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	21687362	21687362	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaggagaccctggcatCtttgcctgggagatccgcga	10	7	13	11	2	1	2	0	0	1	2	2	5	2	2	3	3	2	2	3	3	2	1			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr20:21687362C>A	ENST00000398485.2	+	2	627	c.573C>A	c.(571-573)atC>atA	p.I191I	PAX1_ENST00000444366.2_Silent_p.I167I|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	191	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACCCTGGCATCTTTGCCTGGG	0.632																																					p.I191I													PAX1_ENST00000398485,NS,carcinoma,0,2	PAX1_ENST00000398485	0	2	0			c.C573A												56	59	58					20																	21687362		2203	4300	6503	SO:0001819	synonymous_variant	5075	exon2			TGGCATCTTTGCC		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.573C>A	20.37:g.21687362C>A			59	0	0		87	0.24	21	NM_006192	0		0	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	CCDS13146.2																																																																																					0.632	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078282.3				A	21687362	C	A	21687362	2	1	44	1	0	0	0	0	0	0	0	1	11495	903	32	3		3	PAX1	20	21687362	Silent	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10	17798464	21687362	41338158	49	3143											
SLC37A1	54020	mdanderson.org	37	chr21	43959638	43959638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtggcatcattggggagCgcctgccgattaggtattac	8	11	13	9	2	2	0	2	0	0	0	2	2	2	1	2	4	3	2	2	4	3	4			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr21:43959638C>T	ENST00000352133.2	+	6	1349	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	SLC37A1_ENST00000398341.3_Missense_Mutation_p.R123C			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	123					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CATTGGGGAGCGCCTGCCGAT	0.522																																					p.R123C													.	.			0			c.C367T												102	93	96					21																	43959638		2203	4300	6503	SO:0001583	missense	54020	exon7			GGGGAGCGCCTGC	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.367C>T	21.37:g.43959638C>T	ENSP00000344648:p.Arg123Cys		163	0	0		143	0.04	6	NM_018964	32	0	0	D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227005	0.58668	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.65916	-0.18;-0.18	4.8	3.88	0.44766	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.90425	3.115	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.85938	0.1456	10	0.87932	D	0	-9.3459	14.3761	0.66879	0.1481:0.8519:0.0:0.0	.	123	P57057	GLPT_HUMAN	C	123	ENSP00000381383:R123C;ENSP00000344648:R123C	ENSP00000344648:R123C	R	+	1	0	SLC37A1	42832707	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	7.529000	0.81952	2.223000	0.72356	0.555000	0.69702	CGC			0.522	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195377.1				T	43959638	C	T	43959638	3	4	44	1	0	0	0	0	1	0	0	0	14620	768	27	1	385	1	SLC37A1	21	43959638	Missense_Mutation	SNP	C	TCGA-2G-AAH0-01A-11D-A42Y-10		43959638	4170257	50	3144											
CECR1	51816	broad.mit.edu	37	chr22	17684613	17684613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagacaacattttggtttGtgtaaatcacctccgggtgc	10	12	9	10	1	1	1	1	0	0	1	2	1	2	1	3	2	2	2	3	2	3	4			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr22:17684613G>T	ENST00000399839.1	-	4	863	c.593C>A	c.(592-594)aCa>aAa	p.T198K	CECR1_ENST00000449907.2_Missense_Mutation_p.T156K|CECR1_ENST00000262607.3_Missense_Mutation_p.T198K|CECR1_ENST00000399837.2_Missense_Mutation_p.T198K	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	198					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATTTTGGTTTGTGTAAATCAC	0.498																																					p.T198K													.	CECR1	77		0			c.C593A												142	120	127					22																	17684613		2203	4300	6503	SO:0001583	missense	51816	exon3			TGGTTTGTGTAAA	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.593C>A	22.37:g.17684613G>T	ENSP00000382733:p.Thr198Lys		153	0	0		151	0.03	5	NM_017424	67	0	0	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400785	0.25291	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	3.6	2.57	0.30868	Adenosine/AMP deaminase (1);	0.601209	0.16688	U	0.203665	T	0.57169	0.2035	N	0.13198	0.31	0.09310	N	1	B	0.32876	0.388	B	0.22880	0.042	T	0.43861	-0.9365	10	0.08381	T	0.77	.	8.9683	0.35890	0.1088:0.0:0.8912:0.0	.	198	Q9NZK5	CECR1_HUMAN	K	198;198;156;198	ENSP00000382733:T198K;ENSP00000262607:T198K;ENSP00000406443:T156K;ENSP00000382731:T198K	ENSP00000262607:T198K	T	-	2	0	CECR1	16064613	0.129000	0.22400	0.000000	0.03702	0.001000	0.01503	2.631000	0.46502	0.496000	0.27904	-0.157000	0.13467	ACA			0.498	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316079.1				T	17684613	G	T	17684613	3	4	44	1	0	0	0	0	1	0	0	0	3207	1377	48	3	1004	3	CECR1	22	17684613	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10		17684613	33619953	51	3145											
CDC45	8318	mdanderson.org	37	chr22	19484956	19484956	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgctgtccaaggacctGaatgacatgctgtggtacgt	9	11	13	8	1	0	2	0	2	0	0	1	4	1	4	2	3	3	3	2	3	3	1			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr22:19484956G>T	ENST00000407835.1	+	9	895	c.639G>T	c.(637-639)ctG>ctT	p.L213L	CDC45_ENST00000437685.2_Silent_p.L245L|CDC45_ENST00000263201.1_Silent_p.L213L|CDC45_ENST00000404724.3_Silent_p.L167L			O75419	CDC45_HUMAN	cell division cycle 45	213					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|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)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CCAAGGACCTGAATGACATGC	0.562																																					p.L245L													.	.			0			c.G735T												234	177	196					22																	19484956		2203	4300	6503	SO:0001819	synonymous_variant	8318	exon9			GGACCTGAATGAC	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.639G>T	22.37:g.19484956G>T			64	0	0		54	0.06	3	NM_001178010	119	0.01	1	B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	CCDS13762.1																																																																																					0.562	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000317903.1		NM_003504		T	19484956	G	T	19484956	2	4	44	1	0	0	0	0	0	0	0	1	3083	1277	45	3		3	CDC45	22	19484956	Silent	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	1800343	19484956	31819610	52	3146											
PIWIL3	440822	broad.mit.edu	37	chr22	25145722	25145722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgtgtacccgttaggcccTttttccatctgccctggctg	3	15	10	13	1	1	0	0	0	1	0	2	0	2	0	4	2	2	4	4	2	2	5			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr22:25145722T>C	ENST00000332271.5	-	10	1570	c.1154A>G	c.(1153-1155)aAg>aGg	p.K385R	PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	385	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTTAGGCCCTTTTTCCATCT	0.468																																					p.K385R													.	PIWIL3	115		0			c.A1154G												154	120	132					22																	25145722		2203	4300	6503	SO:0001583	missense	440822	exon10			AGGCCCTTTTTCC	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1154A>G	22.37:g.25145722T>C	ENSP00000330031:p.Lys385Arg		252	0.003968254	1		128	0.03	4	NM_001008496	0		0		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	T	3.944	-0.013729	0.07681	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.10099	2.91;2.91;2.91	2.29	-0.0014	0.14034	Argonaute/Dicer protein, PAZ (4);	0.721096	0.12611	U	0.453910	T	0.04770	0.0129	N	0.20881	0.62	0.24410	N	0.994662	B;B;B	0.21381	0.055;0.034;0.009	B;B;B	0.25291	0.059;0.03;0.024	T	0.42932	-0.9422	10	0.05351	T	0.99	-10.9833	1.8165	0.03102	0.2778:0.1706:0.0:0.5517	.	276;385;385	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	R	385;276;276	ENSP00000330031:K385R;ENSP00000431843:K276R;ENSP00000435718:K276R	ENSP00000330031:K385R	K	-	2	0	PIWIL3	23475722	0.986000	0.35501	0.663000	0.29738	0.233000	0.25261	0.006000	0.13152	-0.056000	0.13221	0.260000	0.18958	AAG			0.468	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320084.2		NM_001008496		C	25145722	T	C	25145722	3	2	44	1	0	0	0	0	1	0	0	0	11976	1609	56	4	1542	4	PIWIL3	22	25145722	Missense_Mutation	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10	5660766	25145722	26158844	53	3147											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962631	37962631	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctggtgcggagggTgggggcgcccccccggagga	4	4	21	12	3	0	0	0	0	0	0	0	3	0	3	3	7	3	3	3	7	0	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr22:37962631T>G	ENST00000249014.4	+	2	695	c.275T>G	c.(274-276)gTg>gGg	p.V92G		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	92					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)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GTGCGGAGGGTGGGGGCGCCC	0.697																																					p.V92G													.	CDC42EP1	53		0			c.T275G												27	29	28					22																	37962631		2201	4293	6494	SO:0001583	missense	11135	exon2			GGAGGGTGGGGGC	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.275T>G	22.37:g.37962631T>G	ENSP00000249014:p.Val92Gly		227	0.0528634361	12		183	0.15	27	NM_152243	38	0.05	2	A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	T	8.072	0.770536	0.15983	.	.	ENSG00000128283	ENST00000249014	T	0.31247	1.5	5.22	3.03	0.35002	.	0.247549	0.30036	N	0.010569	T	0.20495	0.0493	L	0.39898	1.24	0.22728	N	0.99881	B	0.12630	0.006	B	0.13407	0.009	T	0.18023	-1.0350	10	0.20046	T	0.44	-20.0019	6.2589	0.20889	0.0:0.1809:0.2291:0.59	.	92	Q00587	BORG5_HUMAN	G	92	ENSP00000249014:V92G	ENSP00000249014:V92G	V	+	2	0	CDC42EP1	36292577	0.001000	0.12720	0.742000	0.31022	0.794000	0.44872	-0.110000	0.10824	0.841000	0.35020	0.460000	0.39030	GTG			0.697	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318993.1		NM_152243		G	37962631	T	G	37962631	3	3	44	1	0	0	0	0	1	0	0	0	3077	1696	59	4	277	4	CDC42EP1	22	37962631	Missense_Mutation	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10	12816909	37962631	13341935	54	3148											
CTPS2	56474	broad.mit.edu	37	chrX	16685816	16685816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcagtttcttgcaaactcTatcactgctagttgcatccc	9	13	7	12	0	3	0	1	0	2	0	4	0	4	0	1	1	4	6	1	1	3	5			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chrX:16685816T>C	ENST00000443824.1	-	12	1964	c.1221A>G	c.(1219-1221)atA>atG	p.I407M	CTPS2_ENST00000359276.4_Missense_Mutation_p.I407M|CTPS2_ENST00000380241.3_Missense_Mutation_p.I407M	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	407	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TTGCAAACTCTATCACTGCTA	0.318																																					p.I407M													.	CTPS2	49		0			c.A1221G												100	92	95					X																	16685816		2203	4300	6503	SO:0001583	missense	56474	exon12			AAACTCTATCACT	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.1221A>G	X.37:g.16685816T>C	ENSP00000401264:p.Ile407Met		225	0	0		134	0.03	4	NM_001144002	6	0	0	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	CCDS14175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.37|17.37	3.372497|3.372497	0.61624|0.61624	.|.	.|.	ENSG00000047230|ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276;ENST00000380207|ENST00000455276	D;D;D|.	0.90504|.	-2.68;-2.68;-2.68|.	5.47|5.47	-0.968|-0.968	0.10313|0.10313	Glutamine amidotransferase type 1 (2);|.	0.074507|.	0.56097|.	D|.	0.000039|.	T|.	0.74558|.	0.3732|.	M|M	0.92317|0.92317	3.295|3.295	0.44711|0.44711	D|D	0.997706|0.997706	P|.	0.37688|.	0.605|.	P|.	0.61800|.	0.894|.	T|.	0.71777|.	-0.4490|.	10|.	0.66056|.	D|.	0.02|.	-19.9475|-19.9475	4.6138|4.6138	0.12415|0.12415	0.6586:0.1433:0.0:0.1981|0.6586:0.1433:0.0:0.1981	.|.	407|.	Q9NRF8|.	PYRG2_HUMAN|.	M|W	407;407;407;73|29	ENSP00000401264:I407M;ENSP00000369590:I407M;ENSP00000352222:I407M|.	ENSP00000352222:I407M|.	I|X	-|-	3|2	3|0	CTPS2|CTPS2	16595737|16595737	0.338000|0.338000	0.24775|0.24775	0.997000|0.997000	0.53966|0.53966	0.920000|0.920000	0.55202|0.55202	-0.918000|-0.918000	0.04021|0.04021	-0.197000|-0.197000	0.10350|0.10350	-0.367000|-0.367000	0.07326|0.07326	ATA|TAG			0.318	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055906.1		NM_019857		C	16685816	T	C	16685816	3	2	44	1	0	0	0	0	1	0	0	0	4025	1512	53	4	567	4	CTPS2	23	16685816	Missense_Mutation	SNP	T	TCGA-2G-AAH0-01A-11D-A42Y-10		16685816	138584744	55	3149											
PHF16	9767	broad.mit.edu;bcgsc.ca	37	chrX	46857586	46857586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccacattaatcctgataGctattacctctttgctgata	11	15	4	11	0	2	2	1	2	1	0	3	2	3	2	3	0	3	2	3	0	5	6			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chrX:46857586G>T	ENST00000218343.4	+	4	489	c.191G>T	c.(190-192)aGc>aTc	p.S64I	PHF16_ENST00000397189.1_Missense_Mutation_p.S64I	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AATCCTGATAGCTATTACCTC	0.458																																					p.S64I													.	PHF16	72		0			c.G191T												166	138	147					X																	46857586		2203	4300	6503	SO:0001583	missense	0	exon4			CTGATAGCTATTA																												ENST00000218343.4:c.191G>T	X.37:g.46857586G>T	ENSP00000218343:p.Ser64Ile		87	0	0		55	0.09	5	NM_001077445	1	0	0		Missense_Mutation	SNP	ENST00000218343.4	37	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704021	0.48412	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343;ENST00000455411	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.21	-0.462	0.12168	Enhancer of polycomb-like, N-terminal (1);	0.425981	0.29335	N	0.012454	T	0.23846	0.0577	N	0.22421	0.69	0.30591	N	0.761569	B	0.14012	0.009	B	0.16722	0.016	T	0.09037	-1.0693	10	0.87932	D	0	.	5.2702	0.15620	0.6081:0.1668:0.2251:0.0	.	64	Q92613	JADE3_HUMAN	I	64	ENSP00000391009:S64I;ENSP00000380373:S64I;ENSP00000218343:S64I;ENSP00000400584:S64I	ENSP00000218343:S64I	S	+	2	0	PHF16	46742530	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	3.479000	0.53165	-0.084000	0.12595	0.513000	0.50165	AGC			0.458	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056376.1				T	46857586	G	T	46857586	3	4	44	1	0	0	0	0	1	0	0	0	11844	971	34	2	201	2	PHF16	23	46857586	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	30171770	46857586	108412974	56	3150											
RBM10	8241	hgsc.bcm.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	15	1	25	0	0	0	2	0	1	0	1	0	14	0	12	0	11	0	0	0	11	1	0			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					p.E184D	Melanoma(171;120 2705 19495 39241)												.	.			0			c.G552T												20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241	exon4			GGAGGAGGATGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp		70	0	0		60	0.07	4	NM_001204468	3	0	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG			0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676		T	47030582	G	T	47030582	3	4	44	1	0	0	0	0	1	0	0	0	13134	991	35	3	367	3	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-2G-AAH0-01A-11D-A42Y-10	172996	47030582	108239978	57	3151											
ACAP3	116983	broad.mit.edu	37	chr1	1229472	1229472	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggttgcgcgtctcacccGgtgcggcccagcagcgtggc	3	7	17	14	5	1	0	1	0	1	0	2	0	1	0	2	4	4	2	2	4	0	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:1229472G>T	ENST00000354700.5	-	22	2449	c.2247C>A	c.(2245-2247)acC>acA	p.T749T	ACAP3_ENST00000353662.3_Silent_p.T674T|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	749					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGTCTCACCCGGTGCGGCCCA	0.726																																					p.T749T													.	ACAP3	87		0			c.C2247A												12	15	14					1																	1229472		2109	4133	6242	SO:0001819	synonymous_variant	116983	exon22			TCACCCGGTGCGG	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2247C>A	1.37:g.1229472G>T			148	0	0		129	0.03	4	NM_030649	44	0	0	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	CCDS19.2																																																																																					0.726	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006366.2		NM_030649		T	1229472	G	T	1229472	2	4	45	1	0	0	0	0	0	0	0	1	120	1103	39	1		1	ACAP3	1	1229472	Silent	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10		1229472	248021149	1	3152											
MIB2	142678	mdanderson.org	37	chr1	1565765	1565765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccggcagatggaggaacGcatcacctgccccatctgca	10	6	10	15	2	2	1	1	0	1	1	2	3	2	3	4	3	4	3	4	3	2	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:1565765G>T	ENST00000357210.4	+	20	3113	c.2897G>T	c.(2896-2898)cGc>cTc	p.R966L	MMP23B_ENST00000356026.5_5'Flank|MIB2_ENST00000355826.5_Missense_Mutation_p.R1009L|MIB2_ENST00000505820.2_Missense_Mutation_p.R1023L|MIB2_ENST00000378710.3_Missense_Mutation_p.R930L|MIB2_ENST00000378708.1_Missense_Mutation_p.R872L|MIB2_ENST00000378712.1_3'UTR|MMP23B_ENST00000378675.3_5'Flank|MIB2_ENST00000520777.1_Missense_Mutation_p.R1019L|MIB2_ENST00000504599.1_Missense_Mutation_p.R922L|MIB2_ENST00000518681.1_Missense_Mutation_p.R958L|MIB2_ENST00000360522.4_Missense_Mutation_p.R931L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	966					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATGGAGGAACGCATCACCTGC	0.746																																					p.R1023L													.	.			0			c.G3068T												7	10	9					1																	1565765		1972	4019	5991	SO:0001583	missense	142678	exon20			AGGAACGCATCAC	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2897G>T	1.37:g.1565765G>T	ENSP00000349741:p.Arg966Leu		43	0	0		28	0.11	3	NM_080875	50	0	0	A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37		.	.	.	.	.	.	.	.	.	.	-	18.08	3.543074	0.65198	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000504599;ENST00000378708	D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	3.78	3.78	0.43462	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	U	0.000000	D	0.84401	0.5464	N	0.21373	0.66	0.58432	D	0.999999	P;D;D;D;D;D	0.89917	0.938;1.0;0.972;1.0;1.0;0.997	P;D;P;D;D;D	0.91635	0.808;0.999;0.846;0.999;0.999;0.951	D	0.85342	0.1096	10	0.45353	T	0.12	-22.5625	14.7753	0.69726	0.0:0.0:1.0:0.0	.	931;872;958;1019;952;966	Q96AX9-5;F2Z2L2;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;.;MIB2_HUMAN	L	1019;966;931;930;1009;958;1023;922;872	ENSP00000428660:R1019L;ENSP00000349741:R966L;ENSP00000353713:R931L;ENSP00000367982:R930L;ENSP00000348081:R1009L;ENSP00000428264:R958L;ENSP00000426103:R1023L;ENSP00000426128:R922L;ENSP00000367980:R872L	ENSP00000348081:R1009L	R	+	2	0	MIB2	1555628	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	5.676000	0.68131	1.924000	0.55735	0.450000	0.29827	CGC			0.746	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_080875		T	1565765	G	T	1565765	3	4	45	1	0	0	0	0	1	0	0	0	9583	1087	38	1	3146	1	MIB2	1	1565765	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	336293	1565765	247684856	2	3153											
SLC2A5	6518	mdanderson.org	37	chr1	9101770	9101770	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcctgtcctgtggtggtgGctttggaacacaaggagggg	7	10	17	7	0	0	0	0	0	0	0	2	2	2	2	2	7	1	1	2	7	2	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:9101770G>A	ENST00000377424.4	-	5	751				SLC2A5_ENST00000377414.3_Silent_p.S215S|SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000536305.1_Intron	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5						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)		TGTGGTGGTGGCTTTGGAACA	0.577																																					p.S215S													.	.			0			c.C645T												64	63	63					1																	9101770		692	1591	2283	SO:0001627	intron_variant	6518	exon5			GTGGTGGCTTTGG	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.571+73C>T	1.37:g.9101770G>A			69	0	0		45	0.07	3	NM_001135585	0		0	Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	CCDS99.1																																																																																					0.577	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004932.1		NM_003039		A	9101770	G	A	9101770	1	1	45	0	1	0	0	0	0	0	0	0	14571	1194	42	2		2	SLC2A5	1	9101770	Intron	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	7536005	9101770	240148851	3	3154											
CROCC	4237	mdanderson.org	37	chr1	17298008	17298008	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagcccggcccagctggagGtggatgcgcagcagcagcag	9	3	16	13	2	0	0	0	0	0	0	0	2	0	2	2	4	6	5	2	4	0	0			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:17298008G>T	ENST00000375535.3	-	0	1260				MFAP2_ENST00000490075.1_5'Flank|CROCC_ENST00000375541.5_Missense_Mutation_p.V1945L			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2						extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCAGCTGGAGGTGGATGCGCA	0.711																																					p.V1945L													.	.			0			c.G5833T												5	7	6					1																	17298008		2012	3911	5923	SO:0001628	intergenic_variant	9696	exon36			CTGGAGGTGGATG	BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290		1.37:g.17298008G>T			9	0	0		10	0.2	2	NM_014675	64	0	0	Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	CCDS174.1	.	.	.	.	.	.	.	.	.	.	G	3.473	-0.107459	0.06924	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09255	3.0	3.87	2.92	0.33932	.	.	.	.	.	T	0.06416	0.0165	N	0.12182	0.205	0.23254	N	0.998032	B;B;B	0.30236	0.274;0.274;0.175	B;B;B	0.37833	0.188;0.065;0.259	T	0.42882	-0.9425	9	0.09843	T	0.71	.	6.6903	0.23167	0.227:0.0:0.773:0.0	.	1826;1248;1945	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	L	1945;1826	ENSP00000364691:V1945L	ENSP00000364691:V1945L	V	+	1	0	CROCC	17170595	0.993000	0.37304	0.497000	0.27552	0.249000	0.25844	2.248000	0.43160	1.905000	0.55150	0.491000	0.48974	GTG			0.711	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000006609.1		NM_002403		T	17298008	G	T	17298008	1	4	45	0	1	0	0	0	0	0	0	0	3895	1261	44	3		3	CROCC	1	17298008	IGR	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	8196238	17298008	231952613	4	3155											
ATP8B2	57198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	154321404	154321404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactggctcccggcgctccgGctatgccttctcccatcagg	4	9	10	18	3	2	0	1	0	1	0	5	0	4	0	4	4	1	3	4	4	1	2			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:154321404G>T	ENST00000368489.3	+	28	3482	c.3482G>T	c.(3481-3483)gGc>gTc	p.G1161V		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1147					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|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)		IL6R/ATP8B2(2)	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	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGGCGCTCCGGCTATGCCTTC	0.657																																					p.G1161V													.	.			0			c.G3482T												27	31	30					1																	154321404		2203	4300	6503	SO:0001583	missense	57198	exon28			GCTCCGGCTATGC	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3482G>T	1.37:g.154321404G>T	ENSP00000357475:p.Gly1161Val		139	0	0		196	0.36	70	NM_020452	113	0.28	32	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699172	0.68501	.	.	ENSG00000143515	ENST00000368489	T	0.44083	0.93	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000002	T	0.57213	0.2038	M	0.79258	2.445	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.64993	-0.6276	10	0.87932	D	0	.	15.1107	0.72355	0.0:0.0:1.0:0.0	.	1161	P98198-3	.	V	1161	ENSP00000357475:G1161V	ENSP00000357475:G1161V	G	+	2	0	ATP8B2	152588028	1.000000	0.71417	0.950000	0.38849	0.533000	0.34776	5.348000	0.66004	2.116000	0.64780	0.561000	0.74099	GGC			0.657	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087658.2		NM_020452		T	154321404	G	T	154321404	3	4	45	1	0	0	0	0	1	0	0	0	1195	1203	42	2	3722	2	ATP8B2	1	154321404	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	137023396	154321404	94929217	5	3156											
LYST	1130	broad.mit.edu	37	chr1	235922371	235922371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcaacaagacttggccaaCggccaacagctgcagatccg	13	6	9	13	2	1	2	1	0	0	2	2	2	2	2	3	2	5	2	3	2	5	2	rs147791378	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr1:235922371C>T	ENST00000389794.3	-	23	6956	c.6782G>A	c.(6781-6783)cGt>cAt	p.R2261H	LYST_ENST00000389793.2_Missense_Mutation_p.R2261H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2261					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)			ACTTGGCCAACGGCCAACAGC	0.478													C|||	2	0.000399361	0	0.0029	5008	,	,		18065	0		0	False		,,,				2504	0				p.R2261H													.	LYST	370		0			c.G6782A							C	HIS/ARG	0,4406		0,0,2203	73	69	71		6782	2.9	0	1	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LYST	NM_000081.2	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	2261/3802	235922371	4,13002	2203	4300	6503	SO:0001583	missense	1130	exon23			GGCCAACGGCCAA	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.6782G>A	1.37:g.235922371C>T	ENSP00000374444:p.Arg2261His		128	0	0		162	0.02	4	NM_000081	5	0	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	20.4	3.990142	0.74589	0.0	4.65E-4	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67171	-0.25;-0.25	4.93	2.86	0.33363	.	0.597834	0.18240	N	0.147275	T	0.60830	0.2299	M	0.63428	1.95	0.80722	D	1	D	0.63046	0.992	P	0.47346	0.544	T	0.68078	-0.5504	10	0.72032	D	0.01	.	13.4206	0.60996	0.3351:0.6649:0.0:0.0	.	2261	Q99698	LYST_HUMAN	H	2261	ENSP00000374444:R2261H;ENSP00000374443:R2261H	ENSP00000374443:R2261H	R	-	2	0	LYST	233988994	0.597000	0.26874	0.034000	0.17996	0.911000	0.54048	1.232000	0.32636	0.447000	0.26695	0.558000	0.71614	CGT			0.478	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097533.5				T	235922371	C	T	235922371	3	4	45	1	0	0	0	0	1	0	0	0	9144	536	19	1	4747	1	LYST	1	235922371	Missense_Mutation	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10	81600967	235922371	13328250	6	3157											
COL3A1	1281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	189868987	189868987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattatctgtattagggagCtccaggcccacttgggattg	8	13	11	9	0	2	0	1	0	1	0	3	2	3	2	2	3	1	2	2	3	3	5			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr2:189868987C>T	ENST00000304636.3	+	40	2998	c.2828C>T	c.(2827-2829)gCt>gTt	p.A943V	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	943	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)	TATTAGGGAGCTCCAGGCCCA	0.468																																					p.A943V													.	.			0			c.C2828T												49	49	49					2																	189868987		2202	4300	6502	SO:0001583	missense	1281	exon40			AGGGAGCTCCAGG	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.2828C>T	2.37:g.189868987C>T	ENSP00000304408:p.Ala943Val		289	0	0		274	0.36	98	NM_000090	12397	0.5	6202	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922303	0.73213	.	.	ENSG00000168542	ENST00000304636	D	0.93247	-3.19	5.12	2.25	0.28309	.	1.183060	0.06254	N	0.692533	D	0.89252	0.6662	L	0.41356	1.27	0.18873	N	0.999988	B	0.09022	0.002	B	0.06405	0.002	T	0.74331	-0.3700	10	0.17832	T	0.49	.	9.9943	0.41889	0.0:0.7328:0.1247:0.1425	.	943	P02461	CO3A1_HUMAN	V	943	ENSP00000304408:A943V	ENSP00000304408:A943V	A	+	2	0	COL3A1	189577232	0.003000	0.15002	0.893000	0.35052	0.908000	0.53690	2.056000	0.41355	0.761000	0.33130	0.655000	0.94253	GCT			0.468	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255899.3		NM_000090		T	189868987	C	T	189868987	3	4	45	1	0	0	0	0	1	0	0	0	3690	797	28	2	2986	2	COL3A1	2	189868987	Missense_Mutation	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10		189868987	53330386	7	3158											
ANKZF1	55139	bcgsc.ca;mdanderson.org	37	chr2	220101121	220101121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctctttctgctccacacGttgcctccaggatcatcgcc	5	13	6	17	2	3	0	1	0	2	0	7	1	5	1	4	1	2	2	4	1	0	3			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr2:220101121G>A	ENST00000323348.5	+	14	2309	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.R502H|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R712H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	712						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCCACACGTTGCCTCCAG	0.562																																					p.R712H													.	ANKZF1	45		0			c.G2135A												100	101	101					2																	220101121		2031	4188	6219	SO:0001583	missense	55139	exon14			CCACACGTTGCCT	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.2135G>A	2.37:g.220101121G>A	ENSP00000321617:p.Arg712His		113	0	0		80	0.06	5	NM_001042410	79	0	0	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306726	0.40795	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.95554	-3.74;-3.74;-3.74	5.38	3.6	0.41247	.	0.156344	0.56097	N	0.000032	D	0.93252	0.7850	M	0.75447	2.3	0.43238	D	0.995147	B	0.15141	0.012	B	0.11329	0.006	D	0.89112	0.3497	10	0.46703	T	0.11	-11.2212	6.5363	0.22355	0.2234:0.1423:0.6343:0.0	.	712	Q9H8Y5	ANKZ1_HUMAN	H	712;502;712	ENSP00000321617:R712H;ENSP00000386815:R502H;ENSP00000386337:R712H	ENSP00000321617:R712H	R	+	2	0	ANKZF1	219809365	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.316000	0.43761	0.847000	0.35167	-0.137000	0.14449	CGT			0.562	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335790.1		NM_018089		A	220101121	G	A	220101121	3	1	45	1	0	0	0	0	1	0	0	0	693	1145	40	1	2185	1	ANKZF1	2	220101121	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	30232134	220101121	23098252	8	3159											
SH3BP5	9467	mdanderson.org	37	chr3	15373825	15373825	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccagcccctgctccaTcccctcttcctcctcctcct	2	12	2	25	0	1	0	0	0	1	0	9	0	9	0	11	0	2	1	11	0	0	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:15373825T>C	ENST00000383791.3	-	1	311	c.91A>G	c.(91-93)Atg>Gtg	p.M31V	SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000253688.5_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	31	Glu-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ccctgctccatcccctcttcc	0.706																																					p.M31V													.	.			0			c.A91G												27	24	25					3																	15373825		2164	4234	6398	SO:0001583	missense	9467	exon1			GCTCCATCCCCTC	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"SH3 binding protein"	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.91A>G	3.37:g.15373825T>C	ENSP00000373301:p.Met31Val		21	0.0476190476	1		25	0.12	3	NM_004844	20	0	0	B3KQW6|Q5JWV9	Missense_Mutation	SNP	ENST00000383791.3	37	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	T	8.145	0.786134	0.16189	.	.	ENSG00000131370	ENST00000383791	T	0.77098	-1.07	3.4	3.4	0.38934	.	5.541070	0.01381	U	0.012927	T	0.69278	0.3093	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.58148	-0.7687	10	0.87932	D	0	-9.5107	8.4082	0.32627	0.0:0.0:0.0:1.0	.	31	O60239	3BP5_HUMAN	V	31	ENSP00000373301:M31V	ENSP00000373301:M31V	M	-	1	0	SH3BP5	15348829	0.997000	0.39634	0.783000	0.31826	0.247000	0.25773	1.579000	0.36536	1.546000	0.49388	0.254000	0.18369	ATG			0.706	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340740.2		NM_004844		C	15373825	T	C	15373825	3	2	45	1	0	0	0	0	1	0	0	0	14270	1435	50	4	1312	4	SH3BP5	3	15373825	Missense_Mutation	SNP	T	TCGA-2G-AAH2-01A-11D-A42Y-10		15373825	182648605	9	3160											
CLASP2	23122	mdanderson.org	37	chr3	33759452	33759452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccgccgacgtccttctGctgcacctgggcgcagaagt	5	7	13	16	5	1	1	0	0	1	1	2	2	2	1	5	2	2	3	5	2	1	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:33759452G>T	ENST00000468888.2	-	1	89	c.43C>A	c.(43-45)Cag>Aag	p.Q15K	CLASP2_ENST00000359576.5_Missense_Mutation_p.Q15K|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000399362.4_Missense_Mutation_p.Q15K			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	0					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACGTCCTTCTGCTGCACCTGG	0.721																																					p.Q15K													.	.			0			c.C43A												3	4	4					3																	33759452		1563	3577	5140	SO:0001583	missense	23122	exon1			CCTTCTGCTGCAC	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.43C>A	3.37:g.33759452G>T	ENSP00000419974:p.Gln15Lys		16	0	0		14	0.21	3	NM_015097	4	0	0	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	G	18.07	3.541531	0.65085	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576	T;T;T	0.64085	-0.08;-0.08;-0.08	4.09	4.09	0.47781	.	0.083592	0.49305	N	0.000152	T	0.68641	0.3023	L	0.49126	1.545	0.80722	D	1	P	0.52577	0.954	D	0.65140	0.932	T	0.64317	-0.6436	10	0.02654	T	1	-10.4858	16.7687	0.85531	0.0:0.0:1.0:0.0	.	15	F5H604	.	K	15	ENSP00000419974:Q15K;ENSP00000382297:Q15K;ENSP00000352581:Q15K	ENSP00000352581:Q15K	Q	-	1	0	CLASP2	33734456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.722000	0.91452	2.190000	0.69967	0.561000	0.74099	CAG			0.721	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000344320.4		NM_001207044		T	33759452	G	T	33759452	3	4	45	1	0	0	0	0	1	0	0	0	3457	1328	46	2	4629	2	CLASP2	3	33759452	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	18385627	33759452	164262978	10	3161											
EPM2AIP1	9852	mdanderson.org	37	chr3	37034360	37034360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcgcgctcgccgtccGccacataccgctcgtagtat	5	7	12	17	8	0	0	0	0	0	0	3	0	1	0	5	1	1	4	5	1	3	3			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:37034360G>T	ENST00000322716.5	-	1	435	c.209C>A	c.(208-210)gCg>gAg	p.A70E	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	70					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CTCGCCGTCCGCCACATACCG	0.677																																					p.A70E													EPM2AIP1,NS,carcinoma,+1,1	EPM2AIP1	1	1	0			c.C209A												27	33	31					3																	37034360		2052	4200	6252	SO:0001583	missense	9852	exon1			CCGTCCGCCACAT	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.209C>A	3.37:g.37034360G>T	ENSP00000406027:p.Ala70Glu		41	0	0		36	0.08	3	NM_014805	14	0	0	O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416086	0.25552	.	.	ENSG00000178567	ENST00000322716	T	0.13420	2.59	5.26	-0.534	0.11883	.	.	.	.	.	T	0.06917	0.0176	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43702	-0.9375	9	0.02654	T	1	-9.3235	8.4715	0.32988	0.0:0.1822:0.2731:0.5446	.	70	Q7L775	EPMIP_HUMAN	E	70	ENSP00000406027:A70E	ENSP00000406027:A70E	A	-	2	0	EPM2AIP1	37009364	0.004000	0.15560	0.316000	0.25252	0.933000	0.57130	0.534000	0.23098	-0.330000	0.08514	0.563000	0.77884	GCG			0.677	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000470593.1		NM_014805		T	37034360	G	T	37034360	3	4	45	1	0	0	0	0	1	0	0	0	5191	1087	38	1	1618	1	EPM2AIP1	3	37034360	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	3274908	37034360	160988070	11	3162											
XYLB	9942	mdanderson.org	37	chr3	38404464	38404464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagaagatgaaggcttcgGgcttcgacttctctcaagtc	9	11	12	9	2	2	3	1	1	1	2	6	5	2	3	0	3	0	2	0	3	3	3			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:38404464G>T	ENST00000207870.3	+	4	337	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	83					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)		GAAGGCTTCGGGCTTCGACTT	0.527																																					p.G83C													.	.			0			c.G247T												131	131	131					3																	38404464		2203	4300	6503	SO:0001583	missense	9942	exon4			GCTTCGGGCTTCG	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.247G>T	3.37:g.38404464G>T	ENSP00000207870:p.Gly83Cys		59	0	0		42	0.07	3	NM_005108	6	0	0	B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506695	0.64410	.	.	ENSG00000093217	ENST00000207870	T	0.21031	2.03	4.93	4.03	0.46877	Carbohydrate kinase, FGGY, N-terminal (1);	0.047370	0.85682	N	0.000000	T	0.51787	0.1695	M	0.90369	3.11	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.61422	-0.7066	10	0.72032	D	0.01	.	12.4369	0.55604	0.0:0.0:0.8306:0.1694	.	83	O75191	XYLB_HUMAN	C	83	ENSP00000207870:G83C	ENSP00000207870:G83C	G	+	1	0	XYLB	38379468	1.000000	0.71417	0.552000	0.28243	0.872000	0.50106	6.122000	0.71608	1.160000	0.42584	0.455000	0.32223	GGC			0.527	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254062.2		NM_005108		T	38404464	G	T	38404464	3	4	45	1	0	0	0	0	1	0	0	0	17486	1232	43	3	261	3	XYLB	3	38404464	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	1370104	38404464	159617966	12	3163											
WDR6	11180	broad.mit.edu	37	chr3	49050774	49050774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacgagacggccagctccagCcagtcctaaggcagaagtcc	11	5	11	14	2	0	2	0	0	0	2	3	3	3	2	5	2	3	2	5	2	3	2			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:49050774C>T	ENST00000608424.1	+	2	1846	c.1807C>T	c.(1807-1809)Cca>Tca	p.P603S	WDR6_ENST00000395474.3_Missense_Mutation_p.P633S|WDR6_ENST00000448293.1_Missense_Mutation_p.P552S|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Missense_Mutation_p.P51S			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	603					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCAGCTCCAGCCAGTCCTAAG	0.562																																					p.P633S													.	WDR6	79		0			c.C1897T												78	57	64					3																	49050774		2203	4300	6503	SO:0001583	missense	11180	exon2			CTCCAGCCAGTCC	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1807C>T	3.37:g.49050774C>T	ENSP00000477389:p.Pro603Ser		79	0	0		70	0.04	3	NM_018031	170	0	0	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	C	17.54	3.414677	0.62511	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;D	0.89810	2.83;-2.57	5.35	4.42	0.53409	Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.215323	0.40640	N	0.001051	D	0.85461	0.5702	L	0.44542	1.39	0.39156	D	0.962326	D;D;P	0.54601	0.967;0.967;0.907	P;B;B	0.47206	0.541;0.444;0.258	T	0.83033	-0.0161	10	0.09084	T	0.74	-12.5535	14.7323	0.69391	0.0:0.7675:0.2325:0.0	.	51;603;552	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	S	633;51;552	ENSP00000378857:P633S;ENSP00000413432:P552S	ENSP00000378857:P633S	P	+	1	0	WDR6	49025778	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	4.151000	0.58105	2.503000	0.84419	0.561000	0.74099	CCA			0.562	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000471652.1				T	49050774	C	T	49050774	3	4	45	1	0	0	0	0	1	0	0	0	17334	739	26	2	1903	2	WDR6	3	49050774	Missense_Mutation	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10	10646310	49050774	148971656	13	3164											
FNDC3B	64778	hgsc.bcm.edu;broad.mit.edu	37	chr3	172065071	172065071	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagatgaagaatccttaGaactcatttatcatgggaca	16	10	9	6	0	2	5	2	1	0	4	3	7	3	6	1	1	1	0	1	1	6	3			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr3:172065071G>T	ENST00000336824.4	+	21	2533	c.2434G>T	c.(2434-2436)Gaa>Taa	p.E812*	FNDC3B_ENST00000415807.2_Nonsense_Mutation_p.E812*|FNDC3B_ENST00000416957.1_Nonsense_Mutation_p.E812*	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	812	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGAATCCTTAGAACTCATTTA	0.423																																					p.E812X													.	.			0			c.G2434T												127	125	126					3																	172065071		2203	4300	6503	SO:0001587	stop_gained	64778	exon21			TCCTTAGAACTCA	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2434G>T	3.37:g.172065071G>T	ENSP00000338523:p.Glu812*		87	0	0		90	0.06	5	NM_001135095	32	0	0	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Nonsense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	40	8.036304	0.98621	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	.	.	.	6.03	6.03	0.97812	.	0.200554	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-28.8388	15.8039	0.78477	0.0:0.2367:0.7633:0.0	.	.	.	.	X	812	.	ENSP00000338523:E812X	E	+	1	0	FNDC3B	173547765	1.000000	0.71417	0.999000	0.59377	0.615000	0.37417	6.044000	0.71012	2.861000	0.98227	0.655000	0.94253	GAA			0.423	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345618.2		NM_022763		T	172065071	G	T	172065071	4	4	45	1	0	0	0	0	0	1	0	0	5983	943	33	3	2512	3	FNDC3B	3	172065071	Nonsense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	123014297	172065071	25957359	14	3165											
GABRB1	2560	mdanderson.org	37	chr4	47163290	47163290	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacactcaccatgtatttcCagcagtcttggaaagacaaa	15	10	6	10	0	2	1	1	0	1	1	3	2	3	2	2	1	2	2	2	1	4	4			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr4:47163290C>T	ENST00000295454.3	+	4	557	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.Q19*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	89					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|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)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	CATGTATTTCCAGCAGTCTTG	0.363																																					p.Q89X													.	.			0			c.C265T												76	79	78					4																	47163290		2203	4298	6501	SO:0001587	stop_gained	2560	exon4			TATTTCCAGCAGT		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.265C>T	4.37:g.47163290C>T	ENSP00000295454:p.Gln89*		44	0.0227272727	1		37	0.08	3	NM_000812	0		0	B2R6U7|D6REL3|Q16166|Q8TBK3	Nonsense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963682	0.92791	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.5354	17.4825	0.87677	0.0:1.0:0.0:0.0	.	.	.	.	X	56;89;19	.	ENSP00000295454:Q89X	Q	+	1	0	GABRB1	46858047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.611000	0.88343	0.650000	0.86243	CAG			0.363	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216896.1				T	47163290	C	T	47163290	4	4	45	1	0	0	0	0	0	1	0	0	6179	595	21	3	279	3	GABRB1	4	47163290	Nonsense_Mutation	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10		47163290	143990986	15	3166											
SLCO4C1	353189	broad.mit.edu	37	chr5	101599428	101599428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtatatggttagcagttGtcctcccaatacatagccaa	13	12	7	9	0	0	0	0	0	0	0	2	0	2	0	3	1	3	4	3	1	8	6			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr5:101599428G>T	ENST00000310954.6	-	4	1145	c.859C>A	c.(859-861)Caa>Aaa	p.Q287K		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)		GTTAGCAGTTGTCCTCCCAAT	0.363																																					p.Q287K													.	SLCO4C1	113		0			c.C859A												164	160	161					5																	101599428		2203	4300	6503	SO:0001583	missense	353189	exon4			GCAGTTGTCCTCC	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.859C>A	5.37:g.101599428G>T	ENSP00000309741:p.Gln287Lys		370	0	0		265	0.02	6	NM_180991	4	0	0		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140424	0.77775	.	.	ENSG00000173930	ENST00000310954	T	0.38401	1.14	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.087753	0.48286	D	0.000192	T	0.43500	0.1250	M	0.69185	2.1	0.38787	D	0.954893	B	0.22541	0.071	B	0.30401	0.115	T	0.38373	-0.9664	10	0.28530	T	0.3	.	19.1822	0.93628	0.0:0.0:1.0:0.0	.	287	Q6ZQN7	SO4C1_HUMAN	K	287	ENSP00000309741:Q287K	ENSP00000309741:Q287K	Q	-	1	0	SLCO4C1	101627327	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	6.781000	0.75068	2.598000	0.87819	0.650000	0.86243	CAA			0.363	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370332.1		NM_180991		T	101599428	G	T	101599428	3	4	45	1	0	0	0	0	1	0	0	0	14753	1386	48	3	1355	3	SLCO4C1	5	101599428	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10		101599428	79315832	16	3167											
SLC12A2	6558	mdanderson.org	37	chr5	127485691	127485691	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgtttgttctgcagctGaactgaatgttattgcacca	9	15	9	8	0	1	2	0	2	1	0	1	2	1	2	1	0	4	6	1	0	3	4			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr5:127485691G>T	ENST00000262461.2	+	13	2197	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.E670*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	670					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TTCTGCAGCTGAACTGAATGT	0.333																																					p.E670X													.	.			0			c.G2008T												191	171	178					5																	127485691		2203	4300	6503	SO:0001587	stop_gained	6558	exon13			GCAGCTGAACTGA		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2008G>T	5.37:g.127485691G>T	ENSP00000262461:p.Glu670*		44	0.0227272727	1		52	0.08	4	NM_001046	23	0	0	Q8N713|Q8WWH7	Nonsense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	37	6.415232	0.97550	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.212	0.86932	0.0:0.0:1.0:0.0	.	.	.	.	X	670	.	ENSP00000262461:E670X	E	+	1	0	SLC12A2	127513590	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	6.470000	0.73558	2.453000	0.82957	0.591000	0.81541	GAA			0.333	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250972.1		NM_001046		T	127485691	G	T	127485691	4	4	45	1	0	0	0	0	0	1	0	0	14406	1291	45	3	2058	3	SLC12A2	5	127485691	Nonsense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	25886263	127485691	53429569	17	3168											
FARS2	10667	broad.mit.edu	37	chr6	5404837	5404837	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaagttctcgctctgcGcataaacaagagacacacac	16	6	7	12	2	2	1	0	0	2	1	3	3	2	1	0	0	3	3	0	0	5	2	rs370034437		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr6:5404837G>T	ENST00000324331.6	+	3	1011	c.675G>T	c.(673-675)gcG>gcT	p.A225A	FARS2_ENST00000274680.4_Silent_p.A225A			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	225					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTCGCTCTGCGCATAAACAAG	0.413																																					p.A225A													FARS2,colon,carcinoma,+1,2	FARS2	33	2	0			c.G675T												103	105	104					6																	5404837		2203	4300	6503	SO:0001819	synonymous_variant	10667	exon3			CTCTGCGCATAAA	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	21062	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 2, mitochondrial"	611592	"phenylalanine-tRNA synthetase 1 (mitochondrial)"	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.675G>T	6.37:g.5404837G>T			173	0	0		222	0.02	4	NM_006567	52	0	0	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Silent	SNP	ENST00000324331.6	37	CCDS4494.1																																																																																					0.413	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467790.1		NM_006567		T	5404837	G	T	5404837	2	4	45	1	0	0	0	0	0	0	0	1	5691	1074	38	1		1	FARS2	6	5404837	Silent	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10		5404837	165710230	18	3169											
TAAR2	9287	hgsc.bcm.edu;bcgsc.ca	37	chr6	132945356	132945356	+	Splice_Site	DEL	T	T	-																															catatgtttaagggcctaccTtttttgtctgtgttcttttg																										TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr6:132945356delT	ENST00000367931.1	-	1	58	c.59delA	c.(58-60)aag>ag	p.K20fs	TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	20					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGGGCCTACCTTTTTTGTCTG	0.358																																					p.K20fs													.	TAAR2	45		0			c.60delG												170	144	153					6																	132945356		2203	4300	6503	SO:0001630	splice_region_variant	9287	exon1			CCTACCTTTTTTG	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.60+1A>-	6.37:g.132945356delT			119	0	0		110	0.31	34	NM_001033080	0		0	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Frame_Shift_Del	DEL	ENST00000367931.1	37	CCDS34541.1																																																																																					0.358	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000390735.1		NM_014626	Frame_Shift_Del	-	132945356	T	-	132945356	8	5	45	1	0	1	0	1	0	0	1	0	15513	1623	56	0	1004	0	TAAR2	6	132945356	Splice_Site	DEL	T	TCGA-2G-AAH2-01A-11D-A42Y-10	127540519	132945356	38169711	19	3170											
CLIP2	7461	broad.mit.edu	37	chr7	73790841	73790842	+	Frame_Shift_Ins	INS	-	-	G																															tgggctgcagcggcactggcINSgggcccagctggaggtgcaa																										TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:73790841_73790842insG	ENST00000395060.1	+	9	2110_2111	c.2110_2111insG	c.(2110-2112)cggfs	p.R704fs	CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.R669fs|CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.R704fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	704						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						GCGGCACTGGCGGGCCCAGCTG	0.683																																					p.R704fs													.	CLIP2	134		0			c.2110_2111insG																																									SO:0001589	frameshift_variant	7461	exon10			CACTGGCGGGCCC	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.2113dupG	7.37:g.73790844_73790844dupG	ENSP00000378500:p.Arg704fs		101	0	0		96	0.06	6	NM_003388	41	0	0	O14527|O43611	Frame_Shift_Ins	INS	ENST00000395060.1	37	CCDS5569.1																																																																																					0.683	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252556.1		NM_003388		G	73790842	-	G	73790841	7	5	45	1	0	1	1	0	0	0	0	0	3535	759	27	0	2144	0	CLIP2	7	73790841	Frame_Shift_Ins	INS	-	TCGA-2G-AAH2-01A-11D-A42Y-10		73790841	85347822	20	3171											
MGAM	8972	broad.mit.edu;mdanderson.org	37	chr7	141765179	141765179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggggtcgtcatcacccGctccacatttccctcttctg	5	11	9	16	3	4	0	2	0	2	0	7	1	6	0	3	2	0	1	3	2	0	2			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:141765179G>A	ENST00000549489.2	+	38	4624	c.4529G>A	c.(4528-4530)cGc>cAc	p.R1510H	MGAM_ENST00000475668.2_Missense_Mutation_p.R1510H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1510	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)	GTCATCACCCGCTCCACATTT	0.597																																					p.R1510H													.	MGAM	767		0			c.G4529A												50	55	53					7																	141765179		2037	4183	6220	SO:0001583	missense	8972	exon38			TCACCCGCTCCAC	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.4529G>A	7.37:g.141765179G>A	ENSP00000447378:p.Arg1510His		113	0	0		135	0.04	5	NM_004668	2	0	0	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847132	0.91277	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.97016	-4.21	3.97	3.97	0.46021	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99096	0.9689	H	0.99789	4.78	0.44221	D	0.997054	D	0.89917	1.0	D	0.97110	1.0	D	0.98472	1.0601	9	0.87932	D	0	.	14.8747	0.70485	0.0:0.0:1.0:0.0	.	1510	O43451	MGA_HUMAN	H	1510;1510;1387	ENSP00000447378:R1510H	ENSP00000316431:R1387H	R	+	2	0	MGAM	141411648	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	9.718000	0.98758	1.759000	0.51996	0.306000	0.20318	CGC			0.597	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000351244.3				A	141765179	G	A	141765179	3	1	45	1	0	0	0	0	1	0	0	0	9557	1087	38	1	4675	1	MGAM	7	141765179	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	67974338	141765179	17373484	21	3172											
NOBOX	135935	mdanderson.org	37	chr7	144098624	144098624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtgtcctgagcatgagggGctgagccccggagcagttcc	7	7	16	11	1	0	3	0	3	0	0	2	5	2	4	4	3	3	4	4	3	0	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:144098624G>T	ENST00000467773.1	-	4	358	c.359C>A	c.(358-360)gCc>gAc	p.A120D	NOBOX_ENST00000223140.5_Missense_Mutation_p.A35D|NOBOX_ENST00000483238.1_Missense_Mutation_p.A120D	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	120					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	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)	p.A120D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCATGAGGGGCTGAGCCCCG	0.632																																					p.A120D													NOBOX,NS,carcinoma,0,2	NOBOX	0	2	1	Substitution - Missense(1)	prostate(1)	c.C359A												31	34	33					7																	144098624		1827	3870	5697	SO:0001583	missense	135935	exon4			TGAGGGGCTGAGC			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.359C>A	7.37:g.144098624G>T	ENSP00000419457:p.Ala120Asp		33	0	0		43	0.07	3	NM_001080413	0		0	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	G	17.03	3.285454	0.59867	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.94232	-3.18;-3.38;-3.02	4.72	-2.5	0.06384	.	.	.	.	.	D	0.86981	0.6064	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	P	0.50352	0.638	T	0.78178	-0.2305	9	0.66056	D	0.02	-1.1127	0.8438	0.01156	0.2949:0.3014:0.2506:0.1531	.	120	O60393	NOBOX_HUMAN	D	120;120;35	ENSP00000419565:A120D;ENSP00000419457:A120D;ENSP00000223140:A35D	ENSP00000223140:A35D	A	-	2	0	NOBOX	143729557	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	0.038000	0.13862	-0.338000	0.08413	0.561000	0.74099	GCC			0.632	NOBOX-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000350095.1		XM_001134420		T	144098624	G	T	144098624	3	4	45	1	0	0	0	0	1	0	0	0	10529	1203	42	2	1648	2	NOBOX	7	144098624	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	2333445	144098624	15040039	22	3173											
DPP6	1804	mdanderson.org	37	chr7	154598822	154598822	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgctcaagtgcgaaGgtcagctcctgccaccccgt	6	10	9	16	2	3	0	2	0	1	0	5	1	5	0	5	1	4	2	5	1	2	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:154598822G>T	ENST00000377770.3	+	16	1807	c.1666G>T	c.(1666-1668)Ggt>Tgt	p.G556C	DPP6_ENST00000404039.1_Splice_Site_p.G492C|DPP6_ENST00000332007.3_Splice_Site_p.G494C|DPP6_ENST00000427557.1_Splice_Site_p.G449C			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	556					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAAGTGCGAAGGTCAGCTCCT	0.612																																					p.G556C	NSCLC(125;1384 1783 2490 7422 34254)												.	.			0			c.G1666T												88	86	87					7																	154598822		2007	4176	6183	SO:0001630	splice_region_variant	1804	exon16			TGCGAAGGTCAGC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1666+1G>T	7.37:g.154598822G>T			47	0	0		47	0.06	3	NM_130797	8	0	0		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.969282	0.74246	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.8	4.8	0.61643	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	H	0.96269	3.795	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;0.997;0.997;0.993	T	0.83086	-0.0135	10	0.87932	D	0	-14.1826	16.667	0.85255	0.0:0.0:1.0:0.0	.	449;494;556;492	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	492;556;494;449	ENSP00000385578:G492C;ENSP00000367001:G556C;ENSP00000328226:G494C;ENSP00000397303:G449C	ENSP00000328226:G494C	G	+	1	0	DPP6	154229755	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.294000	0.89934	2.177000	0.69029	0.655000	0.94253	GGT			0.612	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000322932.1		NM_130797	Missense_Mutation	T	154598822	G	T	154598822	5	4	45	1	0	0	0	0	0	0	1	0	4735	1014	35	3	1844	3	DPP6	7	154598822	Splice_Site	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	10500198	154598822	4539841	23	3174											
PAXIP1	22976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	154738434	154738434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccggaaagatggctgcttGgataacacctttcctcctgc	8	12	9	12	1	0	1	0	0	0	1	3	3	3	3	4	3	3	2	4	3	2	4			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr7:154738434G>A	ENST00000404141.1	-	18	3166	c.3012C>T	c.(3010-3012)tcC>tcT	p.S1004S	PAXIP1_ENST00000397192.1_Silent_p.S1004S|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1004	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATGGCTGCTTGGATAACACCT	0.478																																					p.S1004S													.	.			0			c.C3012T												77	75	75					7																	154738434		1989	4174	6163	SO:0001819	synonymous_variant	22976	exon18			CTGCTTGGATAAC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.3012C>T	7.37:g.154738434G>A			168	0	0		153	0.23	35	NM_007349	109	0.3	33	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	CCDS47753.1																																																																																					0.478	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322223.1		NM_007349		A	154738434	G	A	154738434	2	1	45	1	0	0	0	0	0	0	0	1	11504	1335	47	3		3	PAXIP1	7	154738434	Silent	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	139612	154738434	4400229	24	3175											
SCARA5	286133	mdanderson.org	37	chr8	27779326	27779326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggttgaggccgcgcagCacgccgcccacgtcggccag	5	5	15	16	6	0	1	0	1	0	0	1	1	0	1	4	3	1	3	4	3	0	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr8:27779326C>T	ENST00000354914.3	-	4	1163	c.678G>A	c.(676-678)gtG>gtA	p.V226V	SCARA5_ENST00000518030.1_Silent_p.V183V|SCARA5_ENST00000524352.1_Silent_p.V226V|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.V183V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	226					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGCCGCGCAGCACGCCGCCCA	0.731																																					p.V226V													SCARA5,NS,carcinoma,-2,1	SCARA5	-2	1	0			c.G678A												10	12	11					8																	27779326		2148	4160	6308	SO:0001819	synonymous_variant	286133	exon4			GCGCAGCACGCCG	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.678G>A	8.37:g.27779326C>T			23	0	0		36	0.08	3	NM_173833	38	0	0	Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	CCDS6064.1																																																																																					0.731	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255223.2		NM_173833		T	27779326	C	T	27779326	2	4	45	1	0	0	0	0	0	0	0	1	13903	697	25	2		2	SCARA5	8	27779326	Silent	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10		27779326	118584696	25	3176											
SPTAN1	6709	broad.mit.edu	37	chr9	131343226	131343226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctttccgaggagagagCggcgctgctggagctgtggg	5	8	18	10	4	0	1	0	0	0	1	2	5	2	3	2	4	3	3	2	4	0	1	rs374524469		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr9:131343226C>T	ENST00000372731.4	+	11	1459	c.1349C>T	c.(1348-1350)gCg>gTg	p.A450V	SPTAN1_ENST00000358161.5_Missense_Mutation_p.A450V|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A450V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	450					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						GAGGAGAGAGCGGCGCTGCTG	0.612																																					p.A450V	NSCLC(120;833 1744 2558 35612 37579)												.	SPTAN1	266		0			c.C1349T							C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	72	65	67		1349,1349,1349	4.6	0	9		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	450/2478,450/2453,450/2473	131343226	1,13005	2203	4300	6503	SO:0001583	missense	6709	exon11			AGAGAGCGGCGCT	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.1349C>T	9.37:g.131343226C>T	ENSP00000361816:p.Ala450Val		100	0	0		102	0.04	4	NM_003127	128	0	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800386	0.50315	0.0	1.16E-4	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.53206	0.63;0.63;0.63	5.47	4.56	0.56223	.	0.484707	0.24375	N	0.039079	T	0.42810	0.1219	L	0.45470	1.425	0.09310	N	1	B;B;B;B;B	0.20261	0.006;0.002;0.004;0.002;0.043	B;B;B;B;B	0.09377	0.001;0.001;0.001;0.0;0.004	T	0.32613	-0.9900	10	0.42905	T	0.14	.	15.4445	0.75220	0.0:0.8608:0.1392:0.0	.	450;450;450;450;450	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	V	450	ENSP00000350882:A450V;ENSP00000361816:A450V;ENSP00000361824:A450V	ENSP00000350882:A450V	A	+	2	0	SPTAN1	130383047	0.870000	0.30015	0.020000	0.16555	0.946000	0.59487	4.473000	0.60196	1.297000	0.44761	0.455000	0.32223	GCG			0.612	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054472.1		NM_003127		T	131343226	C	T	131343226	3	4	45	1	0	0	0	0	1	0	0	0	15140	768	27	1	1387	1	SPTAN1	9	131343226	Missense_Mutation	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10		131343226	9870205	26	3177											
ARMC3	219681	broad.mit.edu	37	chr10	23297852	23297852	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagcgccaccaaagaaaaAggatggaggtaagaaagtgt	20	4	12	5	1	0	2	0	0	0	2	0	4	0	4	2	3	1	1	2	3	7	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr10:23297852A>G	ENST00000298032.5	+	16	2121	c.2037A>G	c.(2035-2037)aaA>aaG	p.K679K	ARMC3_ENST00000409983.3_Silent_p.K672K|ARMC3_ENST00000376528.4_Silent_p.K416K|ARMC3_ENST00000409049.3_Silent_p.K679K	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	679						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						CCAAAGAAAAAGGATGGAGGT	0.478																																					p.K679K													.	ARMC3	102		0			c.A2037G												43	39	41					10																	23297852		2203	4300	6503	SO:0001819	synonymous_variant	219681	exon16			AGAAAAAGGATGG	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.2037A>G	10.37:g.23297852A>G			355	0	0		335	0.01	5	NM_173081	0		0	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	CCDS7142.1																																																																																					0.478	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047197.2		NM_173081		G	23297852	A	G	23297852	2	3	45	1	0	0	0	0	0	0	0	1	952	69	3	4		4	ARMC3	10	23297852	Silent	SNP	A	TCGA-2G-AAH2-01A-11D-A42Y-10		23297852	112236895	27	3178											
SPOCK2	9806	mdanderson.org	37	chr10	73822859	73822859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacaccagcagtcaccgctGctctggtcacactgcatctt	9	9	7	16	1	4	0	2	0	2	0	4	0	4	0	2	1	3	4	2	1	0	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr10:73822859G>T	ENST00000373109.2	-	10	1497	c.1053C>A	c.(1051-1053)agC>agA	p.S351R	SPOCK2_ENST00000317376.4_Missense_Mutation_p.S351R|SPOCK2_ENST00000536168.1_Missense_Mutation_p.S351R|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	351	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGTCACCGCTGCTCTGGTCAC	0.657																																					p.S351R													.	.			0			c.C1053A												49	32	38					10																	73822859		2186	4261	6447	SO:0001583	missense	9806	exon10			ACCGCTGCTCTGG	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.1053C>A	10.37:g.73822859G>T	ENSP00000362201:p.Ser351Arg		97	0	0		54	0.06	3	NM_001244950	49	0	0	C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082918	0.76642	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.63255	-0.03;-0.03	5.12	3.22	0.36961	Thyroglobulin type-1 (6);	0.385921	0.33813	N	0.004526	T	0.63271	0.2497	M	0.68728	2.09	0.80722	D	1	P	0.48998	0.918	P	0.49140	0.601	T	0.62992	-0.6736	10	0.87932	D	0	.	6.2017	0.20579	0.0743:0.1347:0.6514:0.1396	.	351	Q92563	TICN2_HUMAN	R	348;351;351	ENSP00000321108:S351R;ENSP00000439445:S351R	ENSP00000321108:S351R	S	-	3	2	SPOCK2	73492865	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	6.590000	0.74085	0.528000	0.28580	-0.304000	0.09214	AGC			0.657	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048560.2				T	73822859	G	T	73822859	3	4	45	1	0	0	0	0	1	0	0	0	15103	1310	46	2	229	2	SPOCK2	10	73822859	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	50525007	73822859	61711888	28	3179											
FBXO3	26273	broad.mit.edu	37	chr11	33772131	33772131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggatgtacagagctaaGttctggcagaaacgatgtgg	11	9	16	5	1	1	2	0	0	1	2	1	4	1	3	0	4	3	4	0	4	3	3			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr11:33772131G>T	ENST00000265651.3	-	8	904	c.886C>A	c.(886-888)Ctt>Att	p.L296I	FBXO3_ENST00000531080.1_5'UTR|FBXO3_ENST00000534136.1_Missense_Mutation_p.L296I|FBXO3_ENST00000530401.1_Missense_Mutation_p.L291I|FBXO3_ENST00000526785.1_Missense_Mutation_p.L183I|FBXO3_ENST00000448981.2_Missense_Mutation_p.L296I|FBXO3_ENST00000532057.1_5'UTR	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	296	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				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)		ACAGAGCTAAGTTCTGGCAGA	0.388																																					p.L296I													.	FBXO3	37		0			c.C886A												144	139	141					11																	33772131		2202	4298	6500	SO:0001583	missense	26273	exon8			AGCTAAGTTCTGG	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.886C>A	11.37:g.33772131G>T	ENSP00000265651:p.Leu296Ile		151	0	0		159	0.03	4	NM_012175	33	0	0	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755422	0.89843	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T;T	0.48522	0.81;0.84;0.86;0.86;0.87	5.58	4.66	0.58398	ApaG domain (4);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	L	0.46157	1.445	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.63328	-0.6662	10	0.66056	D	0.02	-17.2247	14.8446	0.70251	0.0703:0.0:0.9297:0.0	.	291;296;296	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	I	183;296;291;296;296	ENSP00000435680:L183I;ENSP00000265651:L296I;ENSP00000433781:L291I;ENSP00000431745:L296I;ENSP00000408836:L296I	ENSP00000265651:L296I	L	-	1	0	FBXO3	33728707	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.230000	0.95299	2.650000	0.89964	0.591000	0.81541	CTT			0.388	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388665.1		NM_012175		T	33772131	G	T	33772131	3	4	45	1	0	0	0	0	1	0	0	0	5752	1029	36	3	554	3	FBXO3	11	33772131	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10		33772131	101234385	29	3180											
XRRA1	143570	mdanderson.org	37	chr11	74559215	74559215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctgatgggcgctctGggctgaggcggacagttgtg	5	10	16	10	2	3	2	1	2	2	0	3	3	3	3	1	4	0	3	1	4	0	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr11:74559215G>T	ENST00000340360.6	-	15	1980	c.1649C>A	c.(1648-1650)cCa>cAa	p.P550Q	XRRA1_ENST00000321448.8_Missense_Mutation_p.P275Q|XRRA1_ENST00000527087.1_Missense_Mutation_p.P463Q|RN7SL239P_ENST00000490061.2_RNA	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGCGCTCTGGGCTGAGGCG	0.592																																					p.P550Q													.	.			0			c.C1649A												76	79	78					11																	74559215		2141	4231	6372	SO:0001583	missense	143570	exon15			CGCTCTGGGCTGA	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1649C>A	11.37:g.74559215G>T	ENSP00000339918:p.Pro550Gln		44	0	0		37	0.08	3	NM_182969	14	0	0		Missense_Mutation	SNP	ENST00000340360.6	37	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937203	0.73557	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.52983	0.68;1.44;0.64	4.29	3.38	0.38709	.	0.856527	0.10241	N	0.698387	T	0.61862	0.2381	L	0.60455	1.87	0.21740	N	0.99956	D;D;D;D;D;D;D	0.89917	0.966;1.0;0.999;0.994;0.98;0.989;0.98	P;D;D;P;P;P;P	0.72075	0.564;0.976;0.956;0.862;0.663;0.885;0.663	T	0.45906	-0.9229	10	0.59425	D	0.04	-2.5362	8.0199	0.30404	0.1089:0.0:0.8911:0.0	.	550;152;106;463;494;160;536	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	Q	550;275;536;494;463	ENSP00000339918:P550Q;ENSP00000319303:P275Q;ENSP00000435838:P463Q	ENSP00000319303:P275Q	P	-	2	0	XRRA1	74236863	0.881000	0.30235	0.615000	0.29064	0.740000	0.42216	1.291000	0.33330	1.404000	0.46819	0.591000	0.81541	CCA			0.592	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384715.1		NM_182969		T	74559215	G	T	74559215	3	4	45	1	0	0	0	0	1	0	0	0	17485	1348	47	3	749	3	XRRA1	11	74559215	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	40787084	74559215	60447301	30	3181											
DSCAML1	57453	mdanderson.org	37	chr11	117389460	117389460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcgctgaaggacgagaCgatgcggggcgtgccatctg	7	8	15	11	5	2	2	0	1	2	1	3	5	2	3	1	3	2	1	1	3	1	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr11:117389460C>T	ENST00000321322.6	-	7	1412	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V201I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	411	Ig-like C2-type 5.				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)		AAGGACGAGACGATGCGGGGC	0.687																																					p.V471I													.	.			0			c.G1411A												24	25	25					11																	117389460		2199	4295	6494	SO:0001583	missense	57453	exon7			ACGAGACGATGCG		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.1411G>A	11.37:g.117389460C>T	ENSP00000315465:p.Val471Ile		41	0	0		37	0.08	3	NM_020693	0		0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	5.990	0.366603	0.11352	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.39406	1.08;1.08	4.3	1.06	0.20224	Immunoglobulin I-set (1);Immunoglobulin-like (1);	.	.	.	.	T	0.20047	0.0482	N	0.17723	0.515	0.41956	D	0.990681	B;B	0.06786	0.001;0.001	B;B	0.17098	0.006;0.017	T	0.19877	-1.0292	9	0.02654	T	1	.	6.2114	0.20631	0.0:0.5952:0.1394:0.2654	.	201;411	G3V1B5;Q8TD84	.;DSCL1_HUMAN	I	201;471;178	ENSP00000434335:V201I;ENSP00000315465:V471I	ENSP00000315465:V471I	V	-	1	0	DSCAML1	116894670	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.119000	0.31258	0.422000	0.26005	0.555000	0.69702	GTC			0.687	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392907.2		NM_020693		T	117389460	C	T	117389460	3	4	45	1	0	0	0	0	1	0	0	0	4774	536	19	1	5038	1	DSCAML1	11	117389460	Missense_Mutation	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10	42830245	117389460	17617056	31	3182											
MLL	4297	mdanderson.org	37	chr11	118373743	118373743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccatttgagagggcaaaGgaatgatcgagaccaacaca	15	6	10	10	1	0	3	0	2	0	2	2	6	1	4	3	2	1	1	3	2	3	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr11:118373743G>T	ENST00000389506.5	+	27	7127	c.7127G>T	c.(7126-7128)aGg>aTg	p.R2376M	KMT2A_ENST00000354520.4_Missense_Mutation_p.R2338M|KMT2A_ENST00000534358.1_Missense_Mutation_p.R2379M			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2376					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)										AGAGGGCAAAGGAATGATCGA	0.453																																					p.R2379M													.	.			0			c.G7136T												95	96	96					11																	118373743		2200	4296	6496	SO:0001583	missense	4297	exon27			GGCAAAGGAATGA	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.7127G>T	11.37:g.118373743G>T	ENSP00000374157:p.Arg2376Met		42	0	0		40	0.08	3	NM_001197104	15	0	0	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161349	0.21538	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83755	-1.76;-1.76;-1.72	5.19	3.19	0.36642	.	0.114219	0.64402	D	0.000019	T	0.71854	0.3389	N	0.14661	0.345	0.45035	D	0.998055	D;D	0.56287	0.975;0.975	P;P	0.45946	0.498;0.498	T	0.75379	-0.3338	10	0.72032	D	0.01	.	10.2234	0.43212	0.2283:0.0:0.7717:0.0	.	2379;2376	E9PQG7;Q03164	.;MLL1_HUMAN	M	2379;2376;2338;1286	ENSP00000436786:R2379M;ENSP00000374157:R2376M;ENSP00000346516:R2338M	ENSP00000346516:R2338M	R	+	2	0	MLL	117878953	1.000000	0.71417	0.919000	0.36401	0.943000	0.58893	2.333000	0.43912	1.419000	0.47118	0.563000	0.77884	AGG			0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399085.2		NM_005933		T	118373743	G	T	118373743	3	4	45	1	0	0	0	0	1	0	0	0	9636	1000	35	3	7233	3	MLL	11	118373743	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	984283	118373743	16632773	32	3183											
PRH2	5555	broad.mit.edu	37	chr12	11083460	11083460	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccaacagggaggccaTccccctcctcctcaaggaag	10	4	8	19	0	1	0	1	0	0	0	4	2	4	2	8	3	1	0	8	3	3	0			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:11083460T>C	ENST00000396400.3	+	3	338	c.300T>C	c.(298-300)caT>caC	p.H100H	PRH2_ENST00000381847.3_Silent_p.H100H|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	100						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						AGGGAGGCCATCCCCCTCCTC	0.647																																					p.H100H													.	PRH2	18		0			c.T300C												64	71	69					12																	11083460		2199	4270	6469	SO:0001819	synonymous_variant	5555	exon3			AGGCCATCCCCCT		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"parotid proline-rich protein", "acidic salivary proline-rich protein, HaeIII type, 2"	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.300T>C	12.37:g.11083460T>C			521	0.009596929	5		1456	0.01	19	NM_001110213	6	0	0	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Silent	SNP	ENST00000396400.3	37	CCDS8636.1																																																																																					0.647	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400231.1		NM_001110213		C	11083460	T	C	11083460	2	2	45	1	0	0	0	0	0	0	0	1	12503	1432	50	4		4	PRH2	12	11083460	Silent	SNP	T	TCGA-2G-AAH2-01A-11D-A42Y-10		11083460	122768435	33	3184											
LARP4	113251	broad.mit.edu	37	chr12	50869341	50869341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaagttatgctgaagtgtgCcagaagccccctaaagagcc	12	9	10	10	0	0	3	0	1	0	2	0	3	0	3	4	0	4	2	4	0	6	3			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:50869341C>T	ENST00000398473.2	+	16	1981	c.1869C>T	c.(1867-1869)tgC>tgT	p.C623C	LARP4_ENST00000293618.8_Silent_p.C552C|LARP4_ENST00000518444.1_Silent_p.C622C|LARP4_ENST00000347328.5_Silent_p.C552C|LARP4_ENST00000429001.3_Silent_p.C629C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	623					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CTGAAGTGTGCCAGAAGCCCC	0.393																																					p.C623C													.	LARP4	58		0			c.C1869T												193	193	193					12																	50869341		1822	4090	5912	SO:0001819	synonymous_variant	113251	exon16			AGTGTGCCAGAAG	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1869C>T	12.37:g.50869341C>T			133	0	0		142	0.03	4	NM_052879	64	0	0	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Silent	SNP	ENST00000398473.2	37	CCDS41782.1																																																																																					0.393	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000374981.1		NM_052879		T	50869341	C	T	50869341	2	4	45	1	0	0	0	0	0	0	0	1	8645	747	26	2		2	LARP4	12	50869341	Silent	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10	39785881	50869341	82982554	34	3185											
NACA	4666	broad.mit.edu	37	chr12	57112386	57112386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggatggagtagctggAcctccttttggggagggagg	6	10	20	5	0	0	0	0	0	0	0	1	5	1	5	2	8	1	2	2	8	1	4			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:57112386A>G	ENST00000454682.1	-	3	3209	c.2928T>C	c.(2926-2928)ggT>ggC	p.G976G	NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	976	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGTAGCTGGACCTCCTTTTG	0.657			T	BCL6	NHL																																.				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA	131		0			.												34	41	39					12																	57112386		1395	3223	4618	SO:0001819	synonymous_variant	4666	.			AGCTGGACCTCCT	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2928T>C	12.37:g.57112386A>G			69	0.0289855072	2		62	0.08	5	.	0		0		Silent	SNP	ENST00000454682.1	37																																																																																						0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding				NM_005594		G	57112386	A	G	57112386	2	3	45	1	0	0	0	0	0	0	0	1	10149	262	10	4		4	NACA	12	57112386	Silent	SNP	A	TCGA-2G-AAH2-01A-11D-A42Y-10	6243045	57112386	76739509	35	3186											
RASSF3	283349	mdanderson.org	37	chr12	65004442	65004442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctacagcagcctggaggaGgacgccgaggacttcttctt	8	8	14	11	2	2	0	0	0	2	0	2	5	2	4	2	5	3	2	2	5	1	4			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr12:65004442G>T	ENST00000542104.1	+	1	150	c.30G>T	c.(28-30)gaG>gaT	p.E10D	RP11-338E21.1_ENST00000546135.1_RNA|RASSF3_ENST00000336061.2_Missense_Mutation_p.E10D|RASSF3_ENST00000540088.1_3'UTR	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	10					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GCCTGGAGGAGGACGCCGAGG	0.751																																					p.E10D													.	.			0			c.G30T												22	24	23					12																	65004442		2200	4298	6498	SO:0001583	missense	283349	exon1			GGAGGAGGACGCC		CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.30G>T	12.37:g.65004442G>T	ENSP00000443021:p.Glu10Asp		40	0	0		43	0.07	3	NM_178169	13	0	0	Q86WH1	Missense_Mutation	SNP	ENST00000542104.1	37	CCDS8969.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924739	0.34002	.	.	ENSG00000153179	ENST00000542104;ENST00000336061	T;T	0.15952	2.38;2.38	2.49	1.57	0.23409	.	0.094225	0.41500	U	0.000862	T	0.23766	0.0575	L	0.33753	1.03	0.33973	D	0.647043	D	0.63880	0.993	D	0.67548	0.952	T	0.20338	-1.0278	9	.	.	.	-8.4444	8.8234	0.35041	0.1195:0.0:0.8805:0.0	.	10	Q86WH2	RASF3_HUMAN	D	10	ENSP00000443021:E10D;ENSP00000336616:E10D	.	E	+	3	2	RASSF3	63290709	0.991000	0.36638	0.999000	0.59377	0.903000	0.53119	0.064000	0.14437	0.385000	0.24970	0.298000	0.19748	GAG			0.751	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401161.1				T	65004442	G	T	65004442	3	4	45	1	0	0	0	0	1	0	0	0	13110	991	35	3	32	3	RASSF3	12	65004442	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	7892056	65004442	68847453	36	3187											
C1QTNF9	338872	hgsc.bcm.edu	37	chr13	24895902	24895902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccttctgttcagcagccCgtgacagaggagagtttaaa	10	11	11	9	1	2	3	1	1	1	2	3	4	3	3	2	1	2	4	2	1	2	5	rs530287667	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr13:24895902C>A	ENST00000382071.2	+	4	1083	c.998C>A	c.(997-999)cCg>cAg	p.P333Q	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.P333Q|C1QTNF9-AS1_ENST00000449656.1_RNA|AL359736.1_ENST00000422229.2_5'Flank			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	333	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TTCAGCAGCCCGTGACAGAGG	0.453													C|||	3	0.000599042	0	0	5008	,	,		18131	0.001		0	False		,,,				2504	0.002				p.P333Q													C1QTNF9,bladder,carcinoma,0,1	C1QTNF9	0	1	0			c.C998A												100	108	105					13																	24895902		2203	4300	6503	SO:0001583	missense	338872	exon4			GCAGCCCGTGACA	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.998C>A	13.37:g.24895902C>A	ENSP00000371503:p.Pro333Gln		109	0.0183486239	2		88	0.07	6	NM_178540	1	0	0	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.842333	0.32513	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.90324	-2.65;-2.65	3.53	-2.97	0.05530	Tumour necrosis factor-like (1);Complement C1q protein (1);	2.280360	0.02327	N	0.073533	T	0.80433	0.4622	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67011	-0.5778	10	0.87932	D	0	.	2.2666	0.04080	0.4242:0.198:0.2782:0.0995	.	333	P0C862	C1T9A_HUMAN	Q	333	ENSP00000371503:P333Q;ENSP00000333737:P333Q	ENSP00000333737:P333Q	P	+	2	0	C1QTNF9	23793902	0.077000	0.21312	0.001000	0.08648	0.011000	0.07611	0.085000	0.14912	-0.409000	0.07553	-0.687000	0.03738	CCG			0.453	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044177.1		NM_178540		A	24895902	C	A	24895902	3	1	45	1	0	0	0	0	1	0	0	0	1972	652	23	1	1008	1	C1QTNF9	13	24895902	Missense_Mutation	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10		24895902	90273976	37	3188											
PCCA	5095	mdanderson.org	37	chr13	100959515	100959515	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatcctatgatttcaaaaGttagtttaatttctcaatgg	13	17	6	5	0	2	2	2	2	1	0	4	2	3	2	1	1	0	2	1	1	6	6			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr13:100959515G>T	ENST00000376285.1	+	15	1391		c.e15+1		PCCA_ENST00000376279.3_Splice_Site|PCCA_ENST00000376286.4_Splice_Site	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide						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)	GATTTCAAAAGTTAGTTTAAT	0.308																																					.													.	.			0			c.1353+1G>T												78	78	78					13																	100959515		2203	4300	6503	SO:0001630	splice_region_variant	5095	exon15			TCAAAAGTTAGTT	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.1353+1G>T	13.37:g.100959515G>T			53	0	0		43	0.07	3	NM_001178004	0		0	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Splice_Site	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460848	0.63513	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285;ENST00000443601;ENST00000376254	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8826	0.96904	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCCA	99757516	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	8.876000	0.92379	2.779000	0.95612	0.585000	0.79938	.			0.308	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045627.2			Intron	T	100959515	G	T	100959515	5	4	45	1	0	0	0	0	0	0	1	0	11521	1043	36	3	1412	3	PCCA	13	100959515	Splice_Site	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	76063613	100959515	14210363	38	3189											
PCK2	5106	mdanderson.org	37	chr14	24566126	24566126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggcatgggctgagccccTtgggctggccatcatgccgt	5	9	14	13	1	1	1	1	1	0	0	1	1	1	1	4	4	2	3	4	4	0	1	rs543597068		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr14:24566126T>C	ENST00000216780.4	+	2	323	c.55T>C	c.(55-57)Ttg>Ctg	p.L19L	PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000396973.4_Silent_p.L19L|PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Silent_p.L31L	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	19					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)		GCTGAGCCCCTTGGGCTGGCC	0.547																																					p.L19L													.	.			0			c.T55C												104	91	95					14																	24566126		2203	4300	6503	SO:0001819	synonymous_variant	5106	exon2			AGCCCCTTGGGCT	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.55T>C	14.37:g.24566126T>C			50	0	0		62	0.05	3	NM_001018073	49	0	0	O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	CCDS9609.1																																																																																					0.547	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071900.3		NM_001018073		C	24566126	T	C	24566126	2	2	45	1	0	0	0	0	0	0	0	1	11599	1606	56	4		4	PCK2	14	24566126	Silent	SNP	T	TCGA-2G-AAH2-01A-11D-A42Y-10		24566126	82783414	39	3190											
MIA2	117153	broad.mit.edu	37	chr14	39716705	39716705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacctcaatccactggttgGtttggtggaggatttacaag	11	12	11	7	0	1	0	1	0	0	0	2	2	2	2	2	5	2	2	2	5	4	4			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr14:39716705G>T	ENST00000280082.3	+	4	1126	c.927G>T	c.(925-927)tgG>tgT	p.W309C	MIA2_ENST00000556784.1_Missense_Mutation_p.W308C|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.W309C	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	309					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)		CCACTGGTTGGTTTGGTGGAG	0.408																																					p.W309C													.	MIA2	82		0			c.G927T												125	126	125					14																	39716705		2203	4300	6503	SO:0001583	missense	0	exon4			TGGTTGGTTTGGT	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.927G>T	14.37:g.39716705G>T	ENSP00000280082:p.Trp309Cys		79	0	0		97	0.03	3	NM_054024	1	0	0	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926919	0.73327	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.65916	-0.07;-0.18;2.8	5.47	5.47	0.80525	.	0.000000	0.40469	N	0.001082	T	0.79311	0.4424	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78486	-0.2185	9	.	.	.	-24.9693	19.3321	0.94295	0.0:0.0:1.0:0.0	.	309;309	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	C	309;308;309	ENSP00000280082:W309C;ENSP00000451934:W308C;ENSP00000452252:W309C	.	W	+	3	0	MIA2;RP11-407N17.3	38786456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.275000	0.72594	2.583000	0.87209	0.650000	0.86243	TGG			0.408	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000276768.3		NM_054024		T	39716705	G	T	39716705	3	4	45	1	0	0	0	0	1	0	0	0	9580	1270	44	3	941	3	MIA2	14	39716705	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	15150579	39716705	67632835	40	3191											
ATPBD4	89978	mdanderson.org	37	chr15	35703064	35703064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaggctccatttgatccAgggttttcccaagatgctta	10	13	9	9	0	0	2	0	1	0	1	3	3	3	2	3	2	1	3	3	2	3	5			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr15:35703064A>G	ENST00000256538.4	-	6	565	c.539T>C	c.(538-540)cTg>cCg	p.L180P	DPH6_ENST00000560386.1_5'Flank	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	180					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										CATTTGATCCAGGGTTTTCCC	0.343																																					p.L180P													ATPBD4,NS,carcinoma,+1,1	ATPBD4	1	1	0			c.T539C												134	142	139					15																	35703064		2201	4296	6497	SO:0001583	missense	89978	exon6			TGATCCAGGGTTT		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"diphthine--ammonia ligase"		"ATP binding domain 4", "DPH6 homolog (S. cerevisiae)"	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.539T>C	15.37:g.35703064A>G	ENSP00000256538:p.Leu180Pro		36	0	0		22	0.14	3	NM_080650	18	0	0	B3KWG1|Q96HJ6	Missense_Mutation	SNP	ENST00000256538.4	37	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734776	0.69189	.	.	ENSG00000134146	ENST00000256538	T	0.52057	0.68	5.31	5.31	0.75309	Domain of unknown function DUF71, ATP-binding domain (2);	0.077789	0.56097	D	0.000040	T	0.77130	0.4085	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84237	0.0470	10	0.87932	D	0	-3.9724	13.9812	0.64306	1.0:0.0:0.0:0.0	.	180	Q7L8W6	ATBD4_HUMAN	P	180	ENSP00000256538:L180P	ENSP00000256538:L180P	L	-	2	0	ATPBD4	33490356	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.930000	0.75858	2.230000	0.72887	0.467000	0.42956	CTG			0.343	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251973.1		NM_080650		G	35703064	A	G	35703064	3	3	45	1	0	0	0	0	1	0	0	0	1202	188	7	4	280	4	ATPBD4	15	35703064	Missense_Mutation	SNP	A	TCGA-2G-AAH2-01A-11D-A42Y-10		35703064	66828328	41	3192											
CASC5	57082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	40949336	40949336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacatgtacaacccagcAtcagttacccaaggtaaagc	16	6	8	11	0	1	1	1	0	0	1	1	2	1	1	2	1	5	4	2	1	7	3			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr15:40949336A>T	ENST00000346991.5	+	24	7049	c.6659A>T	c.(6658-6660)cAt>cTt	p.H2220L	CASC5_ENST00000399668.2_Missense_Mutation_p.H2194L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2220	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				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)		acaacccagcatcagttaccc	0.373																																					p.H2220L													.	.			0			c.A6659T												46	45	46					15																	40949336		1835	4084	5919	SO:0001583	missense	57082	exon24			CCCAGCATCAGTT	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.6659A>T	15.37:g.40949336A>T	ENSP00000335463:p.His2220Leu		146	0	0		220	0.22	49	NM_170589	34	0.41	14	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346355	0.41599	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.05199	3.48;3.48	5.73	3.21	0.36854	.	0.497570	0.18377	U	0.143085	T	0.05090	0.0136	L	0.31294	0.92	0.29455	N	0.858174	P;P	0.37207	0.587;0.587	B;B	0.34242	0.178;0.178	T	0.17379	-1.0371	10	0.51188	T	0.08	.	8.7545	0.34637	0.6981:0.0:0.0:0.3019	.	2194;2220	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	L	2220;2194	ENSP00000335463:H2220L;ENSP00000382576:H2194L	ENSP00000335463:H2220L	H	+	2	0	CASC5	38736628	1.000000	0.71417	0.982000	0.44146	0.270000	0.26580	1.935000	0.40173	0.946000	0.37632	0.533000	0.62120	CAT			0.373	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390224.2		NM_144508		T	40949336	A	T	40949336	3	4	45	1	0	0	0	0	1	0	0	0	2665	217	8	5	6749	5	CASC5	15	40949336	Missense_Mutation	SNP	A	TCGA-2G-AAH2-01A-11D-A42Y-10	5246272	40949336	61582056	42	3193											
IGFALS	3483	broad.mit.edu	37	chr16	1840814	1840814	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccacagtcccaggggttAccctccagccacaggcgctc	8	5	10	18	1	0	0	0	0	0	0	3	0	2	0	5	3	3	2	5	3	1	1	rs144587967		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr16:1840814A>C	ENST00000215539.3	-	2	1715	c.1605T>G	c.(1603-1605)ggT>ggG	p.G535G	IGFALS_ENST00000415638.3_Silent_p.G573G			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	535					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CCCAGGGGTTACCCTCCAGCC	0.692																																					p.G573G													.	IGFALS	29		0			c.T1719G												15	13	14					16																	1840814		2124	4218	6342	SO:0001819	synonymous_variant	3483	exon2			GGGGTTACCCTCC	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1605T>G	16.37:g.1840814A>C			52	0.1538461538	8		56	0.23	13	NM_001146006	2	0	0	B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	CCDS10446.1																																																																																					0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250509.2				C	1840814	A	C	1840814	2	2	45	1	0	0	0	0	0	0	0	1	7592	378	14	4		4	IGFALS	16	1840814	Silent	SNP	A	TCGA-2G-AAH2-01A-11D-A42Y-10		1840814	88513939	43	3194											
MT3	4504	bcgsc.ca	37	chr16	56623785	56623785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgtcgccctctctaggtgGctcctgcacctgcgcggact	3	9	13	16	4	1	0	0	0	1	0	4	1	2	1	3	4	2	2	3	4	1	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr16:56623785G>T	ENST00000200691.4	+	2	258	c.35G>T	c.(34-36)gGc>gTc	p.G12V	MT3_ENST00000561640.1_Missense_Mutation_p.G57V|MT3_ENST00000565838.1_Missense_Mutation_p.G25V|MT3_ENST00000566576.1_3'UTR|MT3_ENST00000570176.1_Missense_Mutation_p.G12V	NM_005954.2	NP_005945.1	P25713	MT3_HUMAN	metallothionein 3	12	Beta.				activation of protein kinase B activity (GO:0032148)|astrocyte development (GO:0014002)|cadmium ion homeostasis (GO:0055073)|cell proliferation (GO:0008283)|cellular lipid catabolic process (GO:0044242)|cellular metal ion homeostasis (GO:0006875)|cellular response to cadmium ion (GO:0071276)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular zinc ion homeostasis (GO:0006882)|cholesterol catabolic process (GO:0006707)|energy reserve metabolic process (GO:0006112)|ERK1 and ERK2 cascade (GO:0070371)|histone modification (GO:0016570)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of axon extension (GO:0030517)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of lysosomal membrane permeability (GO:0097214)|positive regulation of necrotic cell death (GO:0010940)|positive regulation of oxygen metabolic process (GO:2000376)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of protein glycosylation (GO:0060049)|regulation of response to food (GO:0032095)|removal of superoxide radicals (GO:0019430)|response to hypoxia (GO:0001666)|zinc ion homeostasis (GO:0055069)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|inclusion body (GO:0016234)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	antioxidant activity (GO:0016209)|cadmium ion binding (GO:0046870)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|drug binding (GO:0008144)|protein kinase activator activity (GO:0030295)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)	2						TCTCTAGGTGGCTCCTGCACC	0.642																																					p.G12V													.	MT3	6		0			c.G35T												82	68	73					16																	56623785		2198	4300	6498	SO:0001583	missense	4504	exon2			TAGGTGGCTCCTG	BC035624	CCDS10762.1	16q13	2008-02-05	2007-01-26		ENSG00000087250	ENSG00000087250		"Metallothioneins"	7408	protein-coding gene	gene with protein product		139255	"metallothionein 3 (growth inhibitory factor (neurotrophic))"			1631128	Standard	NM_005954		Approved	GIF	uc002ejf.3	P25713	OTTHUMG00000133282	ENST00000200691.4:c.35G>T	16.37:g.56623785G>T	ENSP00000200691:p.Gly12Val		56	0	0		146	0.04	6	NM_005954	1	0	0	Q2V574	Missense_Mutation	SNP	ENST00000200691.4	37	CCDS10762.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101241	0.37048	.	.	ENSG00000087250	ENST00000200691	T	0.16073	2.37	4.71	4.71	0.59529	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21552	-1.0242	9	0.54805	T	0.06	-10.1844	13.0349	0.58864	0.0:0.0:1.0:0.0	.	12	P25713	MT3_HUMAN	V	12	ENSP00000200691:G12V	ENSP00000200691:G12V	G	+	2	0	MT3	55181286	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.777000	0.55364	2.442000	0.82660	0.460000	0.39030	GGC			0.642	MT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257062.2		NM_005954		T	56623785	G	T	56623785	3	4	45	1	0	0	0	0	1	0	0	0	9922	1203	42	2	41	2	MT3	16	56623785	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	54782971	56623785	33730968	44	3195											
CMTM2	146225	broad.mit.edu	37	chr16	66613759	66613759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagcaataaagagttctgGctcttggggcacgctgagat	11	9	13	8	1	2	2	0	1	2	2	2	4	2	2	0	3	1	5	0	3	3	3			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr16:66613759G>T	ENST00000268595.2	+	1	400	c.249G>T	c.(247-249)tgG>tgT	p.W83C	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Missense_Mutation_p.W83C	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	83	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AAGAGTTCTGGCTCTTGGGGC	0.582																																					p.W83C													.	CMTM2	33		0			c.G249T												44	48	46					16																	66613759		2201	4300	6501	SO:0001583	missense	146225	exon1			GTTCTGGCTCTTG	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.249G>T	16.37:g.66613759G>T	ENSP00000268595:p.Trp83Cys		82	0	0		228	0.02	4	NM_001199317	1	0	0	Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926364	0.52759	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.72942	-0.7;1.15	4.51	4.51	0.55191	Marvel (1);	0.000000	0.50627	D	0.000117	T	0.78509	0.4294	L	0.54323	1.7	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73196	-0.4059	10	0.24483	T	0.36	-1.8128	13.0353	0.58867	0.0:0.0:1.0:0.0	.	83;83	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	C	83	ENSP00000368800:W83C;ENSP00000268595:W83C	ENSP00000268595:W83C	W	+	3	0	CMTM2	65171260	0.986000	0.35501	0.967000	0.41034	0.557000	0.35523	2.346000	0.44027	2.786000	0.95864	0.561000	0.74099	TGG			0.582	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268808.1				T	66613759	G	T	66613759	3	4	45	1	0	0	0	0	1	0	0	0	3585	1212	42	2	251	2	CMTM2	16	66613759	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	9989974	66613759	23740994	45	3196											
NCOR1	9611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	15973655	15973655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaccactgacgtgtgccggGaacgcacggtctcgcctgct	6	9	12	14	5	1	1	0	1	1	0	2	2	1	2	3	2	4	2	3	2	2	1			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr17:15973655G>A	ENST00000268712.3	-	31	4594	c.4337C>T	c.(4336-4338)tCc>tTc	p.S1446F	NCOR1_ENST00000395857.3_Missense_Mutation_p.S30F|NCOR1_ENST00000395851.1_Missense_Mutation_p.S1462F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1446	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)		CGTGTGCCGGGAACGCACGGT	0.532																																					p.S1462F													.	.			0			c.C4385T												211	187	195					17																	15973655		2203	4300	6503	SO:0001583	missense	9611	exon30			TGCCGGGAACGCA	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.4337C>T	17.37:g.15973655G>A	ENSP00000268712:p.Ser1446Phe		184	0	0		186	0.34	63	NM_001190440	54	0.39	21	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949291	0.73787	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.54279	0.58;1.18;0.63	5.82	5.82	0.92795	.	0.324240	0.38326	N	0.001740	T	0.57213	0.2038	L	0.59436	1.845	0.36640	D	0.876773	P;P;P;P	0.42337	0.776;0.661;0.612;0.731	B;B;B;B	0.42798	0.398;0.229;0.172;0.323	T	0.66991	-0.5783	10	0.87932	D	0	0.0584	19.0733	0.93148	0.0:0.0:1.0:0.0	.	257;1353;1446;1462	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	F	1446;1462;1353;30	ENSP00000268712:S1446F;ENSP00000379192:S1462F;ENSP00000379198:S30F	ENSP00000268712:S1446F	S	-	2	0	NCOR1	15914380	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	5.806000	0.69150	2.752000	0.94435	0.655000	0.94253	TCC			0.532	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131751.5		NM_006311		A	15973655	G	A	15973655	3	1	45	1	0	0	0	0	1	0	0	0	10252	1174	41	3	3049	3	NCOR1	17	15973655	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10		15973655	65221555	46	3197											
MED1	5469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	37571338	37571338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcatccgacagccctttGtagagtttacagctcacatg	10	11	9	11	1	1	1	1	0	0	1	2	2	2	1	2	0	4	4	2	0	2	4			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr17:37571338G>A	ENST00000394287.3	-	16	1645	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y	MED1_ENST00000300651.6_Silent_p.Y480Y			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)		ACAGCCCTTTGTAGAGTTTAC	0.413										HNSCC(31;0.082)																											p.Y480Y	Pancreas(21;279 768 2492 4877 24026)												.	.			0			c.C1440T												211	216	214					17																	37571338		2203	4300	6503	SO:0001819	synonymous_variant	5469	exon16			CCCTTTGTAGAGT	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	ENST00000394287.3:c.1440C>T	17.37:g.37571338G>A			165	0	0		198	0.29	57	NM_004774	25	0.52	13	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000394287.3	37																																																																																						0.413	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000256944.1		NM_004774		A	37571338	G	A	37571338	2	1	45	1	0	0	0	0	0	0	0	1	9441	1372	48	3		3	MED1	17	37571338	Silent	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	21597683	37571338	43623872	47	3198											
CNP	1267	mdanderson.org	37	chr17	40125905	40125905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccacgcaaggtagccGgaaggggggcgccttgcagt	7	6	17	11	3	0	0	0	0	0	0	0	1	0	1	3	5	3	3	3	5	3	2	rs372142717		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr17:40125905G>T	ENST00000393892.3	+	4	1373	c.1229G>T	c.(1228-1230)cGg>cTg	p.R410L	CNP_ENST00000393888.1_Missense_Mutation_p.R390L|CNP_ENST00000472031.1_3'UTR|CNP_ENST00000591072.1_Missense_Mutation_p.R175L	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	410					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CAAGGTAGCCGGAAGGGGGGC	0.587																																					p.R410L													.	.			0			c.G1229T												36	40	39					17																	40125905		1960	4148	6108	SO:0001583	missense	1267	exon4			GTAGCCGGAAGGG		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.1229G>T	17.37:g.40125905G>T	ENSP00000377470:p.Arg410Leu		22	0	0		17	0.12	2	NM_033133	349	0	0		Missense_Mutation	SNP	ENST00000393892.3	37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427770	0.62733	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.47177	0.85;0.85	5.19	4.22	0.49857	.	0.000000	0.41605	D	0.000857	T	0.53286	0.1787	L	0.44542	1.39	0.33555	D	0.596626	D;P	0.57257	0.979;0.8	P;P	0.59546	0.859;0.468	T	0.65919	-0.6051	10	0.62326	D	0.03	-26.7204	9.1142	0.36746	0.1725:0.0:0.8275:0.0	.	287;410	B4DI06;P09543	.;CN37_HUMAN	L	410;286;390	ENSP00000377470:R410L;ENSP00000377466:R390L	ENSP00000309643:R286L	R	+	2	0	CNP	37379431	1.000000	0.71417	0.996000	0.52242	0.749000	0.42624	1.412000	0.34714	1.193000	0.43086	0.561000	0.74099	CGG			0.587	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257443.2				T	40125905	G	T	40125905	3	4	45	1	0	0	0	0	1	0	0	0	3628	1116	39	1	1243	1	CNP	17	40125905	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	2554567	40125905	41069305	48	3199											
ITGA2B	3674	mdanderson.org	37	chr17	42463057	42463057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcagtcttttctaggaCgttccagtgctgccaggggg	5	12	12	12	1	3	0	1	0	2	0	5	1	5	1	3	3	2	2	3	3	1	4			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr17:42463057C>T	ENST00000262407.5	-	4	467	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	ITGA2B_ENST00000353281.4_Missense_Mutation_p.V146I|ITGA2B_ENST00000377068.3_5'Flank	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	146					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)			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)	TTTTCTAGGACGTTCCAGTGC	0.677																																					p.V146I													.	.			0			c.G436A												29	37	34					17																	42463057		2199	4299	6498	SO:0001583	missense	3674	exon4			CTAGGACGTTCCA		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.436G>A	17.37:g.42463057C>T	ENSP00000262407:p.Val146Ile		40	0	0		41	0.07	3	NM_000419	0		0	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767716	0.49574	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.85258	-1.96;-1.96	5.55	4.56	0.56223	.	0.854815	0.09472	N	0.797503	T	0.80171	0.4574	M	0.63428	1.95	0.58432	D	0.999997	P	0.39094	0.659	B	0.23419	0.046	T	0.76699	-0.2863	10	0.59425	D	0.04	.	9.2272	0.37414	0.1654:0.675:0.1596:0.0	.	146	P08514	ITA2B_HUMAN	I	146	ENSP00000262407:V146I;ENSP00000340536:V146I	ENSP00000262407:V146I	V	-	1	0	ITGA2B	39818583	0.889000	0.30405	0.622000	0.29159	0.665000	0.39181	1.557000	0.36299	1.302000	0.44855	0.561000	0.74099	GTC			0.677	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439823.1				T	42463057	C	T	42463057	3	4	45	1	0	0	0	0	1	0	0	0	7891	536	19	1	2791	1	ITGA2B	17	42463057	Missense_Mutation	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10	2337152	42463057	38732153	49	3200											
SETBP1	26040	mdanderson.org	37	chr18	42529989	42529989	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtccaccaactctgacagCggacccgtcactcagaattg	10	8	9	14	2	3	2	2	1	1	1	4	3	4	3	3	2	2	0	3	2	2	1	rs149073567	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr18:42529989C>T	ENST00000282030.5	+	4	980	c.684C>T	c.(682-684)agC>agT	p.S228S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	228						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)		ACTCTGACAGCGGACCCGTCA	0.552									Schinzel-Giedion syndrome				C|||	3	0.000599042	0.0015	0	5008	,	,		18853	0		0.001	False		,,,				2504	0				p.S228S													SETBP1,NS,carcinoma,0,1	SETBP1	0	1	0			c.C684T							C		1,4405	2.1+/-5.4	0,1,2202	85	79	81		684	0.4	1	18	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SETBP1	NM_015559.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		228/1597	42529989	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	TGACAGCGGACCC	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.684C>T	18.37:g.42529989C>T			80	0	0		50	0.06	3	NM_015559	13	0	0	A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	CCDS11923.2																																																																																			0		0.552	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255854.4		NM_001130110		T	42529989	C	T	42529989	2	4	45	1	0	0	0	0	0	0	0	1	14152	767	27	1		1	SETBP1	18	42529989	Silent	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10		42529989	35547259	50	3201											
SALL3	27164	mdanderson.org	37	chr18	76753274	76753274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgcttctgcgccaaggTcttcggcagcgacagcgcgc	6	7	13	15	6	2	0	0	0	2	0	3	1	2	0	2	2	4	2	2	2	1	2			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr18:76753274T>C	ENST00000537592.2	+	2	1283	c.1283T>C	c.(1282-1284)gTc>gCc	p.V428A	SALL3_ENST00000536229.3_Missense_Mutation_p.V295A|SALL3_ENST00000575389.2_Missense_Mutation_p.V428A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	428					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)		TGCGCCAAGGTCTTCGGCAGC	0.632																																					p.V428A													.	.			0			c.T1283C												28	21	23					18																	76753274		2200	4295	6495	SO:0001583	missense	27164	exon2			CCAAGGTCTTCGG	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.1283T>C	18.37:g.76753274T>C	ENSP00000441823:p.Val428Ala		39	0	0		22	0.09	2	NM_171999	4	0	0	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203735	0.38905	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.06371	3.31	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000129	T	0.23054	0.0557	M	0.78637	2.42	0.80722	D	1	D;P	0.76494	0.999;0.95	D;D	0.77004	0.989;0.935	T	0.03875	-1.0996	10	0.23302	T	0.38	-56.5563	14.0552	0.64764	0.0:0.0:0.0:1.0	.	160;428	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	428;428;160	ENSP00000441823:V428A	ENSP00000299466:V428A	V	+	2	0	SALL3	74854262	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.803000	0.85983	1.907000	0.55213	0.377000	0.23210	GTC			0.632	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256397.1		NM_171999		C	76753274	T	C	76753274	3	2	45	1	0	0	0	0	1	0	0	0	13835	1667	58	4	1289	4	SALL3	18	76753274	Missense_Mutation	SNP	T	TCGA-2G-AAH2-01A-11D-A42Y-10	34223285	76753274	1323974	51	3202											
ATP9B	374868	broad.mit.edu	37	chr18	77013493	77013493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtgggtccatggtaccGcaatctttttcggttccttc	5	17	9	10	2	1	0	0	0	1	0	5	0	3	0	3	3	1	3	3	3	2	6	rs371121796		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr18:77013493G>A	ENST00000426216.2	+	12	1237	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	ATP9B_ENST00000307671.7_Missense_Mutation_p.R407H|RP11-1136J12.1_ENST00000591742.1_RNA	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	407					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)		CCATGGTACCGCAATCTTTTT	0.373																																					p.R407H													.	ATP9B	96		0			c.G1220A							G	HIS/ARG	0,4406		0,0,2203	214	196	202		1220	5.9	1	18	dbSNP_134	202	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP9B	NM_198531.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	407/1148	77013493	1,13005	2203	4300	6503	SO:0001583	missense	374868	exon12			GGTACCGCAATCT	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.1220G>A	18.37:g.77013493G>A	ENSP00000398076:p.Arg407His		172	0	0		181	0.02	4	NM_198531	13	0	0	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470509	0.84533	0.0	1.16E-4	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.88818	-2.43;-2.43	5.95	5.95	0.96441	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.921	D	0.94190	0.7440	10	0.66056	D	0.02	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	407;407	O43861;O43861-2	ATP9B_HUMAN;.	H	407	ENSP00000398076:R407H;ENSP00000304500:R407H	ENSP00000304500:R407H	R	+	2	0	ATP9B	75114481	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.869000	0.69613	2.824000	0.97209	0.655000	0.94253	CGC			0.373	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256402.3		NM_198531		A	77013493	G	A	77013493	3	1	45	1	0	0	0	0	1	0	0	0	1199	1087	38	1	1266	1	ATP9B	18	77013493	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	260219	77013493	1063755	52	3203											
FAM108A1	81926	mdanderson.org	37	chr19	1877409	1877409	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacgggagacgtgatcttGgacaccttctcgatgctgcg	8	9	13	11	4	2	2	0	1	2	1	3	5	2	3	1	2	3	2	1	2	0	2			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:1877409G>T	ENST00000292577.7	-	5	1156	c.723C>A	c.(721-723)tcC>tcA	p.S241S	CTB-31O20.9_ENST00000592720.1_lincRNA|ABHD17A_ENST00000590661.1_Missense_Mutation_p.P210Q|CTB-31O20.2_ENST00000565797.1_lincRNA|ABHD17A_ENST00000250974.9_Silent_p.S292S	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	241						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										ACGTGATCTTGGACACCTTCT	0.711																																					p.S292S													.	.			0			c.C876A												13	7	9					19																	1877409		1405	2473	3878	SO:0001819	synonymous_variant	81926	exon6			GATCTTGGACACC	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.723C>A	19.37:g.1877409G>T			17	0	0		32	0.09	3	NM_031213	133	0	0	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																					0.711	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415556.2		NM_031213		T	1877409	G	T	1877409	2	4	45	1	0	0	0	0	0	0	0	1	5401	1335	47	3		3	FAM108A1	19	1877409	Silent	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10		1877409	57251574	53	3204											
TMED1	11018	mdanderson.org	37	chr19	10946841	10946841	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attagtagccacaaggccagGgctagggccgcgccggccgc	8	4	15	14	4	0	0	0	0	0	0	0	0	0	0	5	4	1	2	5	4	4	3			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:10946841G>T	ENST00000214869.2	-	1	125	c.27C>A	c.(25-27)gcC>gcA	p.A9A	C19orf38_ENST00000592854.1_5'Flank|TMED1_ENST00000591695.1_Silent_p.A9A|TMED1_ENST00000588289.1_5'Flank	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	9					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						ACAAGGCCAGGGCTAGGGCCG	0.692																																					p.A9A													.	.			0			c.C27A												5	7	6					19																	10946841		2124	4136	6260	SO:0001819	synonymous_variant	11018	exon1			GGCCAGGGCTAGG	U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.27C>A	19.37:g.10946841G>T			32	0	0		53	0.06	3	NM_006858	88	0	0		Silent	SNP	ENST00000214869.2	37	CCDS12249.1																																																																																					0.692	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452614.1		NM_006858		T	10946841	G	T	10946841	2	4	45	1	0	0	0	0	0	0	0	1	16025	1219	43	3		3	TMED1	19	10946841	Silent	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	9069432	10946841	48182142	54	3205											
PRKCSH	5589	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr19	11558370	11558370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgaagaagaggctgaagaaga	17	1	22	1	0	0	5	0	1	0	4	0	13	0	12	0	8	0	1	0	8	4	0	rs77563879		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				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)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E													PRKCSH,caecum,carcinoma,0,1	PRKCSH	0	1	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A												27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		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.966G>A	19.37:g.11558370G>A			67	0	0		81	0.07	6	NM_001001329	55	0	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																					0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000458817.1				A	11558370	G	A	11558370	2	1	45	1	0	0	0	0	0	0	0	1	12536	991	35	3		3	PRKCSH	19	11558370	Silent	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	611529	11558370	47570613	55	3206											
MAN2B1	4125	mdanderson.org	37	chr19	12774209	12774209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgagggtcctccaccagCggctgatcgacacacagcac	9	5	11	16	3	0	1	0	1	0	0	3	3	2	1	3	2	3	2	3	2	0	0			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:12774209C>T	ENST00000456935.2	-	6	871	c.831G>A	c.(829-831)ccG>ccA	p.P277P	MAN2B1_ENST00000221363.4_Silent_p.P277P	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	277					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						CCTCCACCAGCGGCTGATCGA	0.582																																					p.P277P													.	.			0			c.G831A												112	93	99					19																	12774209		2203	4300	6503	SO:0001819	synonymous_variant	4125	exon6			CACCAGCGGCTGA		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.831G>A	19.37:g.12774209C>T			80	0	0		89	0.04	4	NM_000528	227	0	0	G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	CCDS32919.1																																																																																					0.582	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000344062.1				T	12774209	C	T	12774209	2	4	45	1	0	0	0	0	0	0	0	1	9232	755	27	1		1	MAN2B1	19	12774209	Silent	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10	1215839	12774209	46354774	56	3207											
ZNF676	163223	ucsc.edu	37	chr19	22363172	22363172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacattcttcacatttGtagggtttctctccagcatg	7	16	7	11	0	3	0	1	0	2	0	5	0	4	0	2	1	2	3	2	1	1	6			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:22363172G>A	ENST00000397121.2	-	3	1664	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	449					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCACATTTGTAGGGTTTCT	0.438																																					p.Y449Y													.	ZNF676	146		0			c.C1347T																																									SO:0001819	synonymous_variant	163223	exon3			ACATTTGTAGGGT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1347C>T	19.37:g.22363172G>A			64	0.03125	2		85	0.07	6	NM_001001411	24	0.21	5	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																					0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464392.1		NM_001001411		A	22363172	G	A	22363172	2	1	45	1	0	0	0	0	0	0	0	1	18106	1372	48	3		3	ZNF676	19	22363172	Silent	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	9588963	22363172	36765811	57	3208											
RHPN2	85415	mdanderson.org	37	chr19	33517427	33517427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctgtgttctgatagacGcccaccgagatgttcagccc	8	11	9	13	2	3	3	1	1	2	2	3	4	3	3	3	0	2	2	3	0	2	4			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:33517427G>A	ENST00000254260.3	-	3	332	c.297C>T	c.(295-297)ggC>ggT	p.G99G	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	99					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)					TCTGATAGACGCCCACCGAGA	0.552																																					p.G99G													.	.			0			c.C297T												141	129	133					19																	33517427		2203	4300	6503	SO:0001819	synonymous_variant	85415	exon3			ATAGACGCCCACC	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.297C>T	19.37:g.33517427G>A			35	0	0		24	0.17	4	NM_033103	22	0	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	CCDS12427.1																																																																																					0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450828.2		NM_033103		A	33517427	G	A	33517427	2	1	45	1	0	0	0	0	0	0	0	1	13374	1074	38	1		1	RHPN2	19	33517427	Silent	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10	11154255	33517427	25611556	58	3209											
HRC	3270	hgsc.bcm.edu	37	chr19	49657886	49657886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatactcagtggaggcctcCtcttcctcctcctcctcctc	4	12	5	20	0	2	0	1	0	1	0	9	1	8	1	8	2	1	0	8	2	1	2			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:49657886C>T	ENST00000252825.4	-	1	795	c.609G>A	c.(607-609)gaG>gaA	p.E203E	HRC_ENST00000595625.1_Silent_p.E203E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	203	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGAGGcctcctcttcctcct	0.572																																					p.E203E	Melanoma(37;75 1097 24567 25669 30645)												.	.			0			c.G609A												123	91	102					19																	49657886		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			GGCCTCCTCTTCC		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.609G>A	19.37:g.49657886C>T			61	0	0		90	0.1	9	NM_002152	5	0.4	2	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																					0.572	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465649.1		NM_002152		T	49657886	C	T	49657886	2	4	45	1	0	0	0	0	0	0	0	1	7367	680	24	3		3	HRC	19	49657886	Silent	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10	16140459	49657886	9471097	59	3210			1	6		2	2	31	N	T_C	6.105107e-05
HRC	3270	hgsc.bcm.edu	37	chr19	49657916	49657916	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcctcctcctcctcTtctccttcatcatcttcccc	2	16	0	23	0	5	0	2	0	3	0	13	0	12	0	9	0	0	0	9	0	0	3	rs7409255		TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr19:49657916T>C	ENST00000252825.4	-	1	765	c.579A>G	c.(577-579)gaA>gaG	p.E193E	HRC_ENST00000595625.1_Silent_p.E193E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	193	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcttcTCCTTCAT	0.557																																					p.E193E	Melanoma(37;75 1097 24567 25669 30645)												.	.			0			c.A579G												119	95	103					19																	49657916		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			CTCCTCTTCTCCT		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.579A>G	19.37:g.49657916T>C			68	0	0		94	0.09	8	NM_002152	5	0	0	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																					0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465649.1		NM_002152		C	49657916	T	C	49657916	2	2	45	1	0	0	0	0	0	0	0	1	7367	1606	56	4		4	HRC	19	49657916	Silent	SNP	T	TCGA-2G-AAH2-01A-11D-A42Y-10	30	49657916	9471067	60	3211			1	6		2	2	31	N	T_C	6.105107e-05
KRTAP10-10	353333	mdanderson.org	37	chr21	46058034	46058034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctcctctgccgccccGtgtgctcccgccctgcctgc	0	11	8	22	3	1	0	0	0	1	0	4	0	4	0	8	0	4	1	8	0	0	1	rs142158982	byFrequency	TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr21:46058034G>A	ENST00000380095.1	+	1	762	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	234						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCGCCCCGTGTGCTCCCG	0.692																																					p.V234M													.	.			0			c.G700A							G	,MET/VAL	54,4352		0,54,2149	54	58	57		,700	-2.9	0	21	dbSNP_134	57	16,8582		0,16,4283	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	0,70,6432	AA,AG,GG		0.1861,1.2256,0.5383	,possibly-damaging	,234/252	46058034	70,12934	2203	4299	6502	SO:0001583	missense	353333	exon1			CGCCCCGTGTGCT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.700G>A	21.37:g.46058034G>A	ENSP00000369438:p.Val234Met		67	0.0149253731	1		88	0.05	4	NM_181688	0		0		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	94	0.04304029304029304	28	0.056910569105691054	7	0.019337016574585635	29	0.050699300699300696	30	0.0395778364116095	g	0.883	-0.728095	0.03135	0.012256	0.001861	ENSG00000221859	ENST00000380095	T	0.01215	5.16	3.52	-2.88	0.05682	.	.	.	.	.	T	0.00241	0.0007	M	0.71206	2.165	0.09310	N	1	B	0.20459	0.045	B	0.20955	0.032	T	0.38178	-0.9673	9	0.42905	T	0.14	.	5.1831	0.15171	0.3582:0.0:0.4952:0.1466	.	234	P60014	KR10A_HUMAN	M	234	ENSP00000369438:V234M	ENSP00000369438:V234M	V	+	1	0	KRTAP10-10	44882462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.581000	0.02119	-0.564000	0.06070	-1.314000	0.01303	GTG			0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688		A	46058034	G	A	46058034	3	1	45	1	0	0	0	0	1	0	0	0	8521	1145	40	1	702	1	KRTAP10-10	21	46058034	Missense_Mutation	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10		46058034	2071861	61	3212											
TRMU	55687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	46749663	46749663	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaactgtctttctgtaGgttggttcctgtataccttg	7	16	11	7	0	2	1	0	0	2	1	3	2	3	1	2	3	2	4	2	3	4	7			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr22:46749663G>C	ENST00000290846.4	+	8	1112		c.e8-1		TRMU_ENST00000381019.3_Splice_Site	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase						tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCTTTCTGTAGGTTGGTTCCT	0.552																																					.													.	.			0			c.773-1G>C												158	132	141					22																	46749663		2203	4300	6503	SO:0001630	splice_region_variant	55687	exon8			TCTGTAGGTTGGT	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.773-1G>C	22.37:g.46749663G>C			228	0	0		319	0.29	91	NM_018006	7	0.29	2	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Splice_Site	SNP	ENST00000290846.4	37	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186707	0.57909	.	.	ENSG00000100416	ENST00000290846;ENST00000381019	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8802	0.88838	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRMU	45128327	1.000000	0.71417	0.996000	0.52242	0.669000	0.39330	8.775000	0.91772	2.295000	0.77249	0.651000	0.88453	.			0.552	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318042.2		NM_018006	Intron	C	46749663	G	C	46749663	5	2	45	1	0	0	0	0	0	0	1	0	16595	1014	35	5	802	5	TRMU	22	46749663	Splice_Site	SNP	G	TCGA-2G-AAH2-01A-11D-A42Y-10		46749663	4554903	62	3213											
MAPK8IP2	23542	mdanderson.org	37	chr22	51044145	51044145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcggtgcccggccCtgccaaggacctgctgggtg	4	6	15	16	3	0	0	0	0	0	0	0	1	0	1	5	4	4	1	5	4	1	0			TCGA-2G-AAH2-01A-11D-A42Y-10	TCGA-2G-AAH2-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b3505fa2-6cd0-48bd-8f11-64c72826ca4d	a86f171b-80a2-45db-b232-a1b53d59d095	g.chr22:51044145C>T	ENST00000399908.2	+	5	1915	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.P665L|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.P371L|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.P400L|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.P388L|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.P286L	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	666	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)		GTGCCCGGCCCTGCCAAGGAC	0.682																																					.													.	.			0			.												30	37	35					22																	51044145		2085	4205	6290	SO:0001583	missense	23542	.			CCGGCCCTGCCAA	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.1199C>T	22.37:g.51044145C>T	ENSP00000382792:p.Pro400Leu		40	0	0		45	0.07	3	.	10	0	0	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37		.	.	.	.	.	.	.	.	.	.	C	17.88	3.496465	0.64186	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.27402	2.45;2.45;2.45;2.45;2.45;1.67	5.15	5.15	0.70609	Src homology-3 domain (1);	0.176924	0.50627	D	0.000111	T	0.34832	0.0911	.	.	.	0.58432	D	0.999999	P;P	0.52842	0.956;0.956	P;B	0.47603	0.551;0.366	T	0.02307	-1.1179	9	0.31617	T	0.26	-13.0311	16.1581	0.81680	0.0:1.0:0.0:0.0	.	638;666	E7EQG6;Q13387	.;JIP2_HUMAN	L	400;665;388;286;400;371	ENSP00000382796:P400L;ENSP00000330572:P665L;ENSP00000404914:P388L;ENSP00000340015:P286L;ENSP00000382792:P400L;ENSP00000008876:P371L	ENSP00000008876:P371L	P	+	2	0	MAPK8IP2	49391011	0.993000	0.37304	1.000000	0.80357	0.414000	0.31173	3.291000	0.51764	2.686000	0.91538	0.650000	0.86243	CCT			0.682	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000316731.2		NM_012324		T	51044145	C	T	51044145	3	4	45	1	0	0	0	0	1	0	0	0	9301	681	24	3	2112	3	MAPK8IP2	22	51044145	Missense_Mutation	SNP	C	TCGA-2G-AAH2-01A-11D-A42Y-10	4294482	51044145	260421	63	3214											
GLTPD1	80772	mdanderson.org	37	chr1	1262874	1262874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgttcctggagggcctgCgtaccagccccgaggacgca	7	6	14	14	3	0	0	0	0	0	0	1	3	1	2	5	3	4	4	5	3	1	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:1262874C>T	ENST00000343938.4	+	3	787	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	GLTPD1_ENST00000464957.1_3'UTR|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000545578.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000411962.1_5'Flank|CPSF3L_ENST00000435064.1_5'Flank	NM_001029885.1	NP_001025056.1	Q5TA50	CPTP_HUMAN		126					ceramide 1-phosphate transport (GO:1902389)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide 1-phosphate binding (GO:1902387)|ceramide 1-phosphate transporter activity (GO:1902388)|glycolipid binding (GO:0051861)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			lung(1)	1	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;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGAGGGCCTGCGTACCAGCCC	0.741																																					p.R126C													.	.			0			c.C376T												12	10	11					1																	1262874		2135	4188	6323	SO:0001583	missense	80772	exon3			GGCCTGCGTACCA																												ENST00000343938.4:c.376C>T	1.37:g.1262874C>T	ENSP00000343890:p.Arg126Cys		21	0	0		23	0.13	3	NM_001029885	22	0	0	Q4G0E6|Q7L5A4	Missense_Mutation	SNP	ENST00000343938.4	37	CCDS30555.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561969	0.45590	.	.	ENSG00000224051	ENST00000343938	.	.	.	5.16	1.96	0.26148	Glycolipid transfer protein domain (3);	0.000000	0.85682	U	0.000000	T	0.41971	0.1182	M	0.67953	2.075	0.80722	D	1	P	0.37276	0.589	B	0.32980	0.156	T	0.28522	-1.0041	9	0.35671	T	0.21	-18.9042	5.1949	0.15232	0.2557:0.5465:0.125:0.0728	.	126	Q5TA50	GLTD1_HUMAN	C	126	.	ENSP00000343890:R126C	R	+	1	0	GLTPD1	1252737	0.995000	0.38212	0.690000	0.30148	0.118000	0.20060	0.832000	0.27490	1.117000	0.41842	0.561000	0.74099	CGT			0.741	GLTPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008742.1				T	1262874	C	T	1262874	3	4	46	1	0	0	0	0	1	0	0	0	6486	768	27	1	382	1	GLTPD1	1	1262874	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10		1262874	247987747	1	3215											
KIAA1751	85452	mdanderson.org	37	chr1	1920330	1920330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgatcctccgagttacctGctgtgtcccgggtccacgtc	4	10	10	17	4	0	0	0	0	0	0	5	2	4	0	6	1	2	2	6	1	1	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:1920330G>A	ENST00000434971.2	-	3	182	c.150C>T	c.(148-150)agC>agT	p.S50S				Q69YW0	CA222_HUMAN		276										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	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)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGAGTTACCTGCTGTGTCCCG	0.602																																					p.S50S													.	.			0			c.C150T												45	46	46					1																	1920330		1831	4074	5905	SO:0001819	synonymous_variant	85452	exon3			TTACCTGCTGTGT																												ENST00000434971.2:c.150C>T	1.37:g.1920330G>A			23	0	0		19	0.11	2	NM_001080484	0		0		Silent	SNP	ENST00000434971.2	37																																																																																						0.602	C1orf222-201	KNOWN	basic	protein_coding	protein_coding						A	1920330	G	A	1920330	2	1	46	1	0	0	0	0	0	0	0	1	8271	1310	46	2		2	KIAA1751	1	1920330	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	657456	1920330	247330291	2	3216											
KIF1B	23095	broad.mit.edu	37	chr1	10397530	10397530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgccttcactttccgaGtaacagtgttgcaggccagt	8	11	11	11	1	1	0	1	0	0	0	2	1	2	0	3	1	3	4	3	1	1	4			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:10397530G>T	ENST00000377086.1	+	31	3563	c.3361G>T	c.(3361-3363)Gta>Tta	p.V1121L	KIF1B_ENST00000377081.1_Missense_Mutation_p.V1121L|KIF1B_ENST00000263934.6_Missense_Mutation_p.V1075L			O60333	KIF1B_HUMAN	kinesin family member 1B	1121					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)		CACTTTCCGAGTAACAGTGTT	0.488																																					p.V1075L													.	KIF1B	242		0			c.G3223T												176	170	172					1																	10397530		2203	4300	6503	SO:0001583	missense	23095	exon29			TTCCGAGTAACAG	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.3361G>T	1.37:g.10397530G>T	ENSP00000366290:p.Val1121Leu		167	0	0		197	0.02	4	NM_015074	71	0	0	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.229592	0.95173	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.77877	-1.13;-1.13;-1.13	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87293	0.6141	M	0.64567	1.98	0.80722	D	1	P;D;D;D;D;P	0.67145	0.952;0.985;0.996;0.992;0.959;0.902	P;P;D;D;B;D	0.77557	0.829;0.729;0.99;0.989;0.437;0.927	D	0.86251	0.1649	10	0.51188	T	0.08	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	1107;1081;1121;1095;1121;1075	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	L	1121;1075;1121;1121	ENSP00000263934:V1075L;ENSP00000366290:V1121L;ENSP00000366284:V1121L	ENSP00000263934:V1075L	V	+	1	0	KIF1B	10320117	1.000000	0.71417	0.117000	0.21633	0.996000	0.88848	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	GTA			0.488	KIF1B-001	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000005102.1				T	10397530	G	T	10397530	3	4	46	1	0	0	0	0	1	0	0	0	8299	1029	36	3	4822	3	KIF1B	1	10397530	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	8477200	10397530	238853091	3	3217											
MFN2	9927	broad.mit.edu	37	chr1	12069691	12069691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgtcagcaagttgaCgtcacccgggagaacctgga	10	8	12	11	2	3	2	2	1	1	1	3	4	3	3	2	2	2	2	2	2	2	1	rs374371748		TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:12069691C>T	ENST00000235329.5	+	18	2434	c.2112C>T	c.(2110-2112)gaC>gaT	p.D704D	MFN2_ENST00000444836.1_Silent_p.D704D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	704					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCAAGTTGACGTCACCCGGG	0.542																																					p.D704D													.	MFN2	83		0			c.C2112T							C	,	1,4405	2.1+/-5.4	0,1,2202	99	96	97		2112,2112	-9.9	0	1		97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MFN2	NM_001127660.1,NM_014874.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	704/758,704/758	12069691	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9927	exon18			AGTTGACGTCACC	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.2112C>T	1.37:g.12069691C>T			144	0.0069444444	1		164	0.02	4	NM_014874	155	0	0	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	CCDS30587.1																																																																																					0.542	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006859.2		NM_014874		T	12069691	C	T	12069691	2	4	46	1	0	0	0	0	0	0	0	1	9540	535	19	1		1	MFN2	1	12069691	Silent	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	1672161	12069691	237180930	4	3218											
NASP	4678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	46073158	46073158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggatataagtaaatctgCagaggagccacaggaaaaag	18	7	11	5	0	1	1	0	0	1	1	1	4	1	4	1	3	2	2	1	3	7	4			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:46073158C>T	ENST00000350030.3	+	6	662	c.575C>T	c.(574-576)gCa>gTa	p.A192V	NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A194V|NASP_ENST00000537798.1_Missense_Mutation_p.A128V|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	192	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)			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)					AGTAAATCTGCAGAGGAGCCA	0.428																																					p.A192V													.	.			0			c.C575T												48	51	50					1																	46073158		2203	4300	6503	SO:0001583	missense	4678	exon6			AATCTGCAGAGGA	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.575C>T	1.37:g.46073158C>T	ENSP00000255120:p.Ala192Val		179	0	0		196	0.24	47	NM_002482	531	0.28	151	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840867	0.32513	.	.	ENSG00000132780	ENST00000527470;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	T;T;T	0.49139	0.81;0.79;0.8	5.11	1.96	0.26148	.	1.138890	0.06237	N	0.689709	T	0.34832	0.0911	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.15719	0.006;0.003;0.014;0.001;0.006	B;B;B;B;B	0.10450	0.003;0.005;0.005;0.001;0.005	T	0.31833	-0.9929	10	0.59425	D	0.04	1.3308	7.2233	0.26002	0.5082:0.4062:0.0:0.0856	.	128;192;92;192;194	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	V	128;128;194;92;192;155	ENSP00000438871:A128V;ENSP00000384529:A194V;ENSP00000255120:A192V	ENSP00000345532:A92V	A	+	2	0	NASP	45845745	0.024000	0.19004	0.870000	0.34147	0.952000	0.60782	0.599000	0.24089	0.787000	0.33731	0.650000	0.86243	GCA			0.428	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000021533.2		NM_002482		T	46073158	C	T	46073158	3	4	46	1	0	0	0	0	1	0	0	0	10188	710	25	2	674	2	NASP	1	46073158	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	34003467	46073158	203177463	5	3219											
C1orf173	127254	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	75038768	75038768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catcaaggcttgcttttcagGagcctcatctttactcagac	9	13	7	12	0	5	1	4	0	1	1	5	2	5	2	1	2	3	2	1	2	2	5			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:75038768G>C	ENST00000326665.5	-	14	2844	c.2626C>G	c.(2626-2628)Cct>Gct	p.P876A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		876	Glu-rich.									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						TGCTTTTCAGGAGCCTCATCT	0.522																																					p.P876A													C1orf173,NS,malignant_melanoma,0,1	C1orf173	0	1	0			c.C2626G												213	212	213					1																	75038768		2203	4300	6503	SO:0001583	missense	127254	exon14			TTTCAGGAGCCTC																												ENST00000326665.5:c.2626C>G	1.37:g.75038768G>C	ENSP00000322609:p.Pro876Ala		109	0	0		103	0.2	21	NM_001002912	0		0	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498258	0.26861	.	.	ENSG00000178965	ENST00000326665	T	0.14640	2.49	5.21	-1.77	0.07982	.	.	.	.	.	T	0.02380	0.0073	L	0.36672	1.1	0.09310	N	1	B	0.17667	0.023	B	0.17433	0.018	T	0.46386	-0.9195	9	0.24483	T	0.36	4.3564	2.7286	0.05221	0.2495:0.4232:0.2156:0.1116	.	876	Q5RHP9	CA173_HUMAN	A	876	ENSP00000322609:P876A	ENSP00000322609:P876A	P	-	1	0	C1orf173	74811356	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.629000	0.05508	-0.277000	0.09193	0.563000	0.77884	CCT			0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000026516.1				C	75038768	G	C	75038768	3	2	46	1	0	0	0	0	1	0	0	0	2016	1174	41	5	1970	5	C1orf173	1	75038768	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	28965610	75038768	174211853	6	3220											
ZNF644	84146	broad.mit.edu	37	chr1	91403170	91403170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcttttgaggagaaataGcagaattcctttcttctccc	10	14	8	9	0	3	3	0	1	3	2	5	5	4	4	2	2	1	1	2	2	3	6			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:91403170G>T	ENST00000370440.1	-	4	3777	c.3560C>A	c.(3559-3561)gCt>gAt	p.A1187D	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.A1187D|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1187					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)		AGGAGAAATAGCAGAATTCCT	0.378																																					p.A1187D													.	ZNF644	120		0			c.C3560A												91	93	92					1																	91403170		2203	4299	6502	SO:0001583	missense	84146	exon4			GAAATAGCAGAAT	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.3560C>A	1.37:g.91403170G>T	ENSP00000359469:p.Ala1187Asp		172	0	0		192	0.02	4	NM_201269	81	0	0	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199391	0.06219	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00574	6.47;6.47	5.84	2.64	0.31445	.	0.565153	0.20352	N	0.094028	T	0.00109	0.0003	N	0.08118	0	0.20489	N	0.999898	B	0.02656	0.0	B	0.01281	0.0	T	0.27606	-1.0069	10	0.13108	T	0.6	-0.2395	2.9246	0.05780	0.0836:0.208:0.3546:0.3537	.	1187	Q9H582	ZN644_HUMAN	D	1187	ENSP00000359469:A1187D;ENSP00000337008:A1187D	ENSP00000337008:A1187D	A	-	2	0	ZNF644	91175758	0.341000	0.24801	0.031000	0.17742	0.975000	0.68041	1.126000	0.31344	0.784000	0.33661	0.655000	0.94253	GCT			0.378	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027846.2		NM_032186		T	91403170	G	T	91403170	3	4	46	1	0	0	0	0	1	0	0	0	18083	971	34	2	435	2	ZNF644	1	91403170	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	16364402	91403170	157847451	7	3221											
VCAM1	7412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	101186170	101186170	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatagatagtccactgaAtgggaaggtgacgaatgagg	14	7	14	6	1	0	5	0	3	0	2	1	7	1	6	2	3	0	0	2	3	5	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:101186170A>T	ENST00000294728.2	+	2	304	c.203A>T	c.(202-204)aAt>aTt	p.N68I	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.N68I|VCAM1_ENST00000370115.1_Missense_Mutation_p.N68I	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	68	Ig-like C2-type 1.				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)	AGTCCACTGAATGGGAAGGTG	0.473																																					p.N68I													.	.			0			c.A203T												94	82	86					1																	101186170		2203	4300	6503	SO:0001583	missense	7412	exon2			CACTGAATGGGAA	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.203A>T	1.37:g.101186170A>T	ENSP00000294728:p.Asn68Ile		189	0	0		196	0.26	50	NM_001078	12	0	0	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277544	0.40294	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.68765	-0.35;-0.35;-0.35	5.82	3.5	0.40072	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.670270	0.16735	N	0.201657	T	0.71099	0.3300	M	0.84433	2.695	0.09310	N	1	D;D	0.76494	0.968;0.999	P;D	0.77004	0.556;0.989	T	0.63994	-0.6511	9	.	.	.	-10.165	4.4656	0.11687	0.6494:0.0:0.3506:0.0	.	68;68	P19320-2;P19320	.;VCAM1_HUMAN	I	68	ENSP00000304611:N68I;ENSP00000294728:N68I;ENSP00000359133:N68I	.	N	+	2	0	VCAM1	100958758	0.474000	0.25886	0.022000	0.16811	0.194000	0.23727	1.137000	0.31479	1.030000	0.39839	0.533000	0.62120	AAT			0.473	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030213.1		NM_001078		T	101186170	A	T	101186170	3	4	46	1	0	0	0	0	1	0	0	0	17161	101	4	5	209	5	VCAM1	1	101186170	Missense_Mutation	SNP	A	TCGA-2G-AAH3-01A-11D-A42Y-10	9783000	101186170	148064451	8	3222											
GPSM2	29899	ucsc.edu	37	chr1	109461327	109461327	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgtcaacagactgaagggGaaaaaatacaaaacgaattc	19	8	8	6	1	1	2	1	1	0	1	2	4	1	3	0	2	3	0	0	2	9	3	rs377658968		TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:109461327G>A	ENST00000406462.2	+	13	2129	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	GPSM2_ENST00000264126.3_Silent_p.G452G|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	452					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GACTGAAGGGGAAAAAATACA	0.383																																					p.G452G													.	GPSM2	56		0			c.G1356A							G		0,4406		0,0,2203	96	98	97		1356	3.8	1	1		97	1,8599		0,1,4299	no	coding-synonymous	GPSM2	NM_013296.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		452/685	109461327	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29899	exon12			GAAGGGGAAAAAA	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1356G>A	1.37:g.109461327G>A			221	0	0		260	0.01	2	NM_013296	52	0.17	9	Q5T1N8|Q6IBL7|Q8N0Z5	Silent	SNP	ENST00000406462.2	37	CCDS792.2	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225404	0.22457	0.0	1.16E-4	ENSG00000121957	ENST00000441735	.	.	.	5.91	3.85	0.44370	.	0.053423	0.85682	D	0.000000	T	0.51466	0.1676	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53585	-0.8418	6	0.48119	T	0.1	-2.9929	10.3349	0.43844	0.0801:0.3853:0.5347:0.0	.	.	.	.	E	42	.	ENSP00000390629:G42E	G	+	2	0	GPSM2	109262850	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.764000	0.26532	0.701000	0.31803	0.558000	0.71614	GGA			0.383	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032400.3	rescued with RNA-seq	NM_013296		A	109461327	G	A	109461327	2	1	46	1	0	0	0	0	0	0	0	1	6750	1161	41	3		3	GPSM2	1	109461327	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	8275157	109461327	139789294	9	3223											
LOR	4014	broad.mit.edu	37	chr1	153233515	153233515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggcggcggcagcggCggtggtggctgcggcttctt	1	8	22	10	6	1	0	0	0	1	0	1	0	1	0	0	10	2	3	0	10	0	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr1:153233515C>T	ENST00000368742.3	+	2	147	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	30					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggcagcggcggtggtggct	0.697																																					p.G30G													.	LOR	19		0			c.C90T												6	8	8					1																	153233515		1962	3919	5881	SO:0001819	synonymous_variant	4014	exon2			CAGCGGCGGTGGT	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.90C>T	1.37:g.153233515C>T			74	0	0		81	0.04	3	NM_000427	0		0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																					0.697	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039107.1		NM_000427		T	153233515	C	T	153233515	2	4	46	1	0	0	0	0	0	0	0	1	8913	755	27	1		1	LOR	1	153233515	Silent	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	43772188	153233515	96017106	10	3224											
RAB10	10890	broad.mit.edu	37	chr2	26257554	26257554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggggaagacctgcgtccTttttcgtttttcggatgatg	6	15	13	7	3	0	2	0	1	0	1	3	4	1	4	2	3	1	1	2	3	1	4			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr2:26257554T>C	ENST00000264710.4	+	1	576	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	26					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGCGTCCTTTTTCGTTTT	0.537																																					p.L26P													.	RAB10	14		0			c.T77C												148	134	139					2																	26257554		2203	4300	6503	SO:0001583	missense	10890	exon1			GCGTCCTTTTTCG	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.77T>C	2.37:g.26257554T>C	ENSP00000264710:p.Leu26Pro		214	0	0		254	0.01	3	NM_016131	327	0	0	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284629	0.80803	.	.	ENSG00000084733	ENST00000264710	T	0.80909	-1.43	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95208	0.8323	10	0.87932	D	0	.	13.0672	0.59041	0.0:0.0:0.0:1.0	.	26	P61026	RAB10_HUMAN	P	26	ENSP00000264710:L26P	ENSP00000264710:L26P	L	+	2	0	RAB10	26111058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	1.971000	0.57363	0.533000	0.62120	CTT			0.537	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211610.1		NM_016131		C	26257554	T	C	26257554	3	2	46	1	0	0	0	0	1	0	0	0	12913	1609	56	4	79	4	RAB10	2	26257554	Missense_Mutation	SNP	T	TCGA-2G-AAH3-01A-11D-A42Y-10		26257554	216941819	11	3225											
SCN9A	6335	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	167055703	167055703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggactttgttgggttttgCtatgagaagaggaggatcca	9	13	14	5	0	0	2	0	1	0	2	1	6	1	5	1	4	1	3	1	4	2	5			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr2:167055703C>T	ENST00000409435.1	-	26	5445	c.5446G>A	c.(5446-5448)Gca>Aca	p.A1816T	SCN9A_ENST00000409672.1_Missense_Mutation_p.A1805T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A1817T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A1817T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1816					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)	TTGGGTTTTGCTATGAGAAGA	0.458																																					p.A1805T													.	.			0			c.G5413A												105	111	109					2																	167055703		2203	4298	6501	SO:0001583	missense	6335	exon27			GTTTTGCTATGAG	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.5446G>A	2.37:g.167055703C>T	ENSP00000386330:p.Ala1816Thr		230	0	0		225	0.04	9	NM_002977	3	0	0	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054257	0.75960	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000012	T	0.30634	0.0771	M	0.86953	2.85	0.44555	D	0.997513	P	0.48589	0.912	P	0.52627	0.704	T	0.04767	-1.0928	10	0.72032	D	0.01	.	14.3984	0.67027	0.0:0.7375:0.2625:0.0	.	1805	E7EUN6	.	T	1805;1817;1817;1816	ENSP00000386306:A1805T;ENSP00000364536:A1817T;ENSP00000304748:A1817T;ENSP00000386330:A1816T	ENSP00000304748:A1817T	A	-	1	0	SCN9A	166763949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.077000	0.50089	2.720000	0.93068	0.655000	0.94253	GCA			0.458	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000333639.1		NM_002977		T	167055703	C	T	167055703	3	4	46	1	0	0	0	0	1	0	0	0	13948	797	28	2	524	2	SCN9A	2	167055703	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	140798149	167055703	76143670	12	3226											
SHOX2	6474	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	157823772	157823772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttcttctccttcactttCtggtcaaaagacttggagac	8	15	6	12	0	5	2	2	0	3	2	7	3	6	2	2	2	0	0	2	2	2	5	rs376757024		TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr3:157823772C>G	ENST00000425436.3	-	1	67	c.42G>C	c.(40-42)caG>caC	p.Q14H	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.Q14H|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000490689.2_5'Flank|SHOX2_ENST00000483851.2_Missense_Mutation_p.Q14H	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	14					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCTTCACTTTCTGGTCAAAAG	0.647																																					p.Q14H													.	.			0			c.G42C							C	HIS/GLN,HIS/GLN,HIS/GLN	1,3855		0,1,1927	36	37	37		42,42,42	3.1	1	3		37	0,8242		0,0,4121	no	missense,missense,missense	SHOX2	NM_001163678.1,NM_003030.4,NM_006884.3	24,24,24	0,1,6048	GG,GC,CC		0.0,0.0259,0.0083	probably-damaging,probably-damaging,probably-damaging	14/320,14/356,14/332	157823772	1,12097	1928	4121	6049	SO:0001583	missense	6474	exon1			CACTTTCTGGTCA	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.42G>C	3.37:g.157823772C>G	ENSP00000398704:p.Gln14His		354	0	0		273	0.05	14	NM_003030	0		0	O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759624	0.69763	2.59E-4	0.0	ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000389589;ENST00000483851	D;D;D	0.97994	-4.65;-4.65;-4.65	3.99	3.09	0.35607	.	0.000000	0.64402	D	0.000012	D	0.97139	0.9065	L	0.36672	1.1	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.997	P;D;D	0.80764	0.808;0.994;0.963	D	0.96409	0.9303	10	0.72032	D	0.01	.	9.2271	0.37414	0.0:0.7588:0.1499:0.0912	.	14;14;14	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	H	14	ENSP00000398704:Q14H;ENSP00000374240:Q14H;ENSP00000419362:Q14H	ENSP00000374240:Q14H	Q	-	3	2	SHOX2;AC112502.1	159306466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.296000	0.43584	1.938000	0.56188	0.561000	0.74099	CAG			0.647	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000352057.2				G	157823772	C	G	157823772	3	3	46	1	0	0	0	0	1	0	0	0	14312	912	32	5	1049	5	SHOX2	3	157823772	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10		157823772	40198658	13	3227											
IQCJ	654502	broad.mit.edu	37	chr3	158983108	158983108	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgattcttctctacctTgaccagcttgccagacccac	9	11	7	14	0	2	3	0	2	2	1	3	3	2	3	4	1	3	1	4	1	2	5			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr3:158983108T>C	ENST00000451172.1	+	5	501	c.396T>C	c.(394-396)ctT>ctC	p.L132L	IQCJ_ENST00000482126.1_Silent_p.L105L|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	132										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TTCTCTACCTTGACCAGCTTG	0.507																																					p.L132L													.	IQCJ	28		0			c.T396C												138	134	136					3																	158983108		1907	4125	6032	SO:0001819	synonymous_variant	654502	exon5			CTACCTTGACCAG	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.396T>C	3.37:g.158983108T>C			143	0.006993007	1		142	0.04	5	NM_001042705	0		0	B7ZMM2|B9EH97|Q1A5X5	Silent	SNP	ENST00000451172.1	37	CCDS46946.1																																																																																					0.507	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000352395.1		NM_001042705.1		C	158983108	T	C	158983108	2	2	46	1	0	0	0	0	0	0	0	1	7827	1799	63	4		4	IQCJ	3	158983108	Silent	SNP	T	TCGA-2G-AAH3-01A-11D-A42Y-10	1159336	158983108	39039322	14	3228											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55602664	55602664	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgttgtgcttctattacagGctcgactacctgtgaagtgg	7	14	11	9	1	1	1	0	1	1	0	2	2	1	1	1	2	3	3	1	2	4	5			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr4:55602664G>C	ENST00000288135.5	+	18	2582	c.2485G>C	c.(2485-2487)Gct>Cct	p.A829P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	829	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> P (in a germ cell tumor of the testis; somatic mutation). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A829P(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTATTACAGGCTCGACTACC	0.398		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.A829P			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,caecum,carcinoma,0,3	KIT	0	3	1	Substitution - Missense(1)	testis(1)	c.G2485C												106	104	105					4																	55602664		2203	4300	6503	SO:0001630	splice_region_variant	3815	exon18	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	TTACAGGCTCGAC	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2485-1G>C	4.37:g.55602664G>C			90	0	0		77	0.3	23	NM_000222	603	0.4	242	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811778	0.70797	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.89343	-2.5;-2.5	5.7	5.7	0.88788	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.105093	0.41823	D	0.000804	D	0.88407	0.6428	N	0.12961	0.28	0.80722	D	1	D;D	0.63046	0.992;0.988	P;P	0.60117	0.808;0.869	D	0.87132	0.2197	9	.	.	.	.	19.4515	0.94869	0.0:0.0:1.0:0.0	.	825;829	P10721-2;P10721	.;KIT_HUMAN	P	829;825	ENSP00000288135:A829P;ENSP00000390987:A825P	.	A	+	1	0	KIT	55297421	1.000000	0.71417	0.991000	0.47740	0.020000	0.10135	7.910000	0.87451	2.683000	0.91414	0.655000	0.94253	GCT			0.398	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1			Missense_Mutation	C	55602664	G	C	55602664	5	2	46	1	0	0	0	0	0	0	1	0	8344	1217	42	5	2555	5	KIT	4	55602664	Splice_Site	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10		55602664	135551612	15	3229											
LRBA	987	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	151837605	151837605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgaaagccttttccttttGactttattgatgttacaatc	9	19	6	7	0	0	3	0	3	0	0	2	3	1	3	2	0	2	2	2	0	4	9			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr4:151837605G>A	ENST00000357115.3	-	7	1085	c.842C>T	c.(841-843)tCa>tTa	p.S281L	LRBA_ENST00000535741.1_Missense_Mutation_p.S281L|LRBA_ENST00000510413.1_Missense_Mutation_p.S281L|LRBA_ENST00000507224.1_Missense_Mutation_p.S281L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	281						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTTTCCTTTTGACTTTATTGA	0.348																																					p.S281L													.	.			0			c.C842T												72	67	69					4																	151837605		2203	4300	6503	SO:0001583	missense	987	exon7			CCTTTTGACTTTA	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.842C>T	4.37:g.151837605G>A	ENSP00000349629:p.Ser281Leu		232	0	0		194	0.06	12	NM_006726	14	0.07	1	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403134	0.96030	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.088617	0.47852	D	0.000210	T	0.74473	0.3721	L	0.42245	1.32	0.80722	D	1	D;D;P	0.69078	0.997;0.996;0.925	D;D;P	0.87578	0.994;0.998;0.536	T	0.72690	-0.4217	10	0.44086	T	0.13	.	19.6558	0.95837	0.0:0.0:1.0:0.0	.	281;281;281	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	L	281	ENSP00000446299:S281L;ENSP00000421552:S281L;ENSP00000349629:S281L;ENSP00000422180:S281L	ENSP00000349629:S281L	S	-	2	0	LRBA	152057055	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.720000	0.93068	0.455000	0.32223	TCA			0.348	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000364939.1				A	151837605	G	A	151837605	3	1	46	1	0	0	0	0	1	0	0	0	8947	1294	45	3	7957	3	LRBA	4	151837605	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	96234941	151837605	39316671	16	3230											
SNX25	83891	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	186231964	186231964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagggggaagggcctcaaagCcagaaggtagaactttatag	14	6	15	6	0	1	2	1	0	0	2	1	4	1	3	2	4	2	1	2	4	7	4			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr4:186231964C>A	ENST00000504273.1	+	7	1140	c.846C>A	c.(844-846)agC>agA	p.S282R	SNX25_ENST00000264694.8_Missense_Mutation_p.S282R|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	282					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GGCCTCAAAGCCAGAAGGTAG	0.433																																					p.S282R													.	SNX25	100		0			c.C846A												33	33	33					4																	186231964		2203	4300	6503	SO:0001583	missense	83891	exon7			TCAAAGCCAGAAG	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.846C>A	4.37:g.186231964C>A	ENSP00000426255:p.Ser282Arg		208	0.0048076923	1		169	0.24	41	NM_031953	21	0.1	2	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.614048	0.28712	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.29917	1.55;1.55	5.59	3.87	0.44632	Regulator of G protein signalling superfamily (1);	0.312185	0.36854	N	0.002369	T	0.28499	0.0705	L	0.57536	1.79	0.45015	D	0.998033	B;B	0.31227	0.215;0.314	B;B	0.30782	0.099;0.12	T	0.03306	-1.1050	10	0.25751	T	0.34	-0.7785	10.7691	0.46312	0.0:0.7901:0.0:0.2099	.	53;282	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	R	282	ENSP00000426255:S282R;ENSP00000264694:S282R	ENSP00000264694:S282R	S	+	3	2	SNX25	186468958	1.000000	0.71417	0.996000	0.52242	0.537000	0.34900	1.995000	0.40767	0.720000	0.32209	0.655000	0.94253	AGC			0.433	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360756.1		NM_031953		A	186231964	C	A	186231964	3	1	46	1	0	0	0	0	1	0	0	0	14919	738	26	2	868	2	SNX25	4	186231964	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	34394359	186231964	4922312	17	3231											
MAP1B	4131	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	71489724	71489724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actaagcaccacccatcctgCcaacaaagccagcttaaccc	14	5	4	18	0	0	0	0	0	0	0	1	0	1	0	6	0	6	2	6	0	4	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr5:71489724C>G	ENST00000296755.7	+	5	840	c.542C>G	c.(541-543)gCc>gGc	p.A181G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	181					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)		ACCCATCCTGCCAACAAAGCC	0.423																																					p.A181G	Melanoma(17;367 822 11631 31730 47712)												.	MAP1B	243		0			c.C542G												73	70	71					5																	71489724		2203	4300	6503	SO:0001583	missense	4131	exon5			ATCCTGCCAACAA	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.542C>G	5.37:g.71489724C>G	ENSP00000296755:p.Ala181Gly		82	0	0		73	0.23	17	NM_005909	12	0.33	4	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288232	0.23478	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.04083	3.71;3.71;3.71	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000003	T	0.04137	0.0115	N	0.16743	0.435	0.58432	D	0.999999	B;B	0.26445	0.149;0.149	B;B	0.23716	0.048;0.048	T	0.55685	-0.8102	10	0.19147	T	0.46	-20.8126	16.0764	0.80971	0.0:0.8669:0.1331:0.0	.	55;181	A2BDK6;P46821	.;MAP1B_HUMAN	G	181;198;55	ENSP00000296755:A181G;ENSP00000423444:A198G;ENSP00000423416:A55G	ENSP00000296755:A181G	A	+	2	0	MAP1B	71525480	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.944000	0.56629	2.894000	0.99253	0.591000	0.81541	GCC			0.423	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000218561.6		NM_005909		G	71489724	C	G	71489724	3	3	46	1	0	0	0	0	1	0	0	0	9244	739	26	5	560	5	MAP1B	5	71489724	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10		71489724	109425536	18	3232											
DHFR	1719	hgsc.bcm.edu;broad.mit.edu	37	chr5	79950296	79950296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcgacgatgcagtttaGcgaaccaaccatgacagcag	14	5	10	12	3	0	1	0	1	0	0	0	4	0	1	2	0	6	3	2	0	3	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr5:79950296G>T	ENST00000439211.2	-	1	506	c.13C>A	c.(13-15)Cta>Ata	p.L5I	DHFR_ENST00000504396.1_5'UTR|DHFR_ENST00000511032.1_Missense_Mutation_p.L5I|MSH3_ENST00000265081.6_5'Flank|DHFR_ENST00000505337.1_Missense_Mutation_p.L5I|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	5	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	ATGCAGTTTAGCGAACCAACC	0.657																																					p.L5I													.	.			0			c.C13A												33	33	33					5																	79950296		1911	4038	5949	SO:0001583	missense	1719	exon1			AGTTTAGCGAACC		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.13C>A	5.37:g.79950296G>T	ENSP00000396308:p.Leu5Ile		160	0	0		128	0.05	6	NM_000791	1	0	0	B4DDD2|Q14130|Q6IRW8	Missense_Mutation	SNP	ENST00000439211.2	37	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223227	0.58668	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032	T;T;T	0.71817	-0.6;-0.6;-0.6	4.92	1.99	0.26369	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	.	.	.	.	T	0.72700	0.3493	L	0.43701	1.375	0.54753	D	0.999989	D;D;D	0.63046	0.992;0.96;0.96	D;D;D	0.71184	0.961;0.972;0.972	T	0.68044	-0.5513	8	.	.	.	-0.3563	5.4931	0.16787	0.2409:0.0:0.6179:0.1412	.	5;5;5	B4DM58;P00374;B0YJ76	.;DYR_HUMAN;.	I	5	ENSP00000396308:L5I;ENSP00000426474:L5I;ENSP00000422732:L5I	.	L	-	1	2	DHFR	79986052	0.586000	0.26782	0.014000	0.15608	0.015000	0.08874	0.748000	0.26305	0.646000	0.30693	-0.259000	0.10710	CTA			0.657	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369450.1		NM_000791		T	79950296	G	T	79950296	3	4	46	1	0	0	0	0	1	0	0	0	4486	962	34	2	574	2	DHFR	5	79950296	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	8460572	79950296	100964964	19	3233											
SLC23A1	9963	mdanderson.org	37	chr5	138714360	138714360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgatgcagcaaatgccttCggtgaagatgcccctgtaag	11	9	12	9	1	0	3	0	2	0	1	1	4	0	3	3	1	4	3	3	1	3	2	rs115023155	byFrequency	TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr5:138714360C>T	ENST00000348729.3	-	10	1133	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	SLC23A1_ENST00000353963.3_Missense_Mutation_p.E367K|SLC23A1_ENST00000503919.1_5'Flank	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	363					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|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)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAAATGCCTTCGGTGAAGATG	0.597													C|||	2	0.000399361	0	0	5008	,	,		16188	0.001		0.001	False		,,,				2504	0				p.E367K													.	.			0			c.G1099A												57	47	50					5																	138714360		2203	4299	6502	SO:0001583	missense	9963	exon10			TGCCTTCGGTGAA	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1087G>A	5.37:g.138714360C>T	ENSP00000302701:p.Glu363Lys		132	0	0		103	0.05	5	NM_152685	1	0	0	O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	CCDS4212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.543421|5.543421	0.96474|0.96474	.|.	.|.	ENSG00000170482|ENSG00000170482	ENST00000353963;ENST00000348729|ENST00000504513	T;T|.	0.22134|.	1.97;1.97|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87071|0.87071	0.6086|0.6086	H|H	0.95365|0.95365	3.66|3.66	0.80722|0.80722	D|D	1|1	P;D|.	0.69078|.	0.897;0.997|.	P;D|.	0.65010|.	0.713;0.931|.	D|D	0.91128|0.91128	0.4935|0.4935	10|5	0.87932|.	D|.	0|.	-28.6656|-28.6656	16.6016|16.6016	0.84817|0.84817	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	363;367|.	Q9UHI7;Q9UHI7-2|.	S23A1_HUMAN;.|.	K|Q	367;363|109	ENSP00000302851:E367K;ENSP00000302701:E363K|.	ENSP00000302701:E363K|.	E|R	-|-	1|2	0|0	SLC23A1|SLC23A1	138742259|138742259	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.964000|0.964000	0.63967|0.63967	7.603000|7.603000	0.82811|0.82811	2.424000|2.424000	0.82194|0.82194	0.561000|0.561000	0.74099|0.74099	GAA|CGA	0.006		0.597	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000374185.1		NM_152685		T	138714360	C	T	138714360	3	4	46	1	0	0	0	0	1	0	0	0	14485	893	31	1	729	1	SLC23A1	5	138714360	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	58764064	138714360	42200900	20	3234											
ADAM19	8728	broad.mit.edu	37	chr5	156936422	156936422	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttcacacatgttcccgtgGgtccacacttccaagcccac	9	9	6	17	1	1	0	1	0	0	0	4	0	4	0	4	1	1	1	4	1	1	3			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr5:156936422G>T	ENST00000517905.1	-	9	836	c.792C>A	c.(790-792)acC>acA	p.T264T	ADAM19_ENST00000394020.1_Silent_p.T266T|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000257527.4_Silent_p.T264T			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	264	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTTCCCGTGGGTCCACACTT	0.493																																					p.T264T													.	ADAM19	216		0			c.C792A												79	71	74					5																	156936422		2203	4300	6503	SO:0001819	synonymous_variant	8728	exon9			CCCGTGGGTCCAC	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.792C>A	5.37:g.156936422G>T			162	0	0		158	0.03	4	NM_033274	4	0	0	Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37																																																																																						0.493	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000373918.1		NM_033274		T	156936422	G	T	156936422	2	4	46	1	0	0	0	0	0	0	0	1	240	1219	43	3		3	ADAM19	5	156936422	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	18222062	156936422	23978838	21	3235											
MSX2	4488	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	174156363	174156363	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctggttccagaaccgaaGggccaaggcgaaaagactgc	14	5	12	10	2	1	2	0	0	1	2	2	4	2	2	3	3	2	1	3	3	6	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr5:174156363G>C	ENST00000239243.6	+	2	708	c.581G>C	c.(580-582)aGg>aCg	p.R194T		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	194				R -> S (in Ref. 1; CAA49156). {ECO:0000305}.	activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	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 (GO:0000982)|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)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	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)			CAGAACCGAAGGGCCAAGGCG	0.527																																					p.R194T													.	MSX2	24		0			c.G581C												61	62	62					5																	174156363		2203	4300	6503	SO:0001583	missense	4488	exon2			ACCGAAGGGCCAA	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"Homeoboxes / ANTP class : NKL subclass"	7392	protein-coding gene	gene with protein product	"craniosynostosis, type 2"	123101	"msh (Drosophila) homeo box homolog 2", "parietal foramina 1", "msh homeobox homolog 2 (Drosophila)"	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.581G>C	5.37:g.174156363G>C	ENSP00000239243:p.Arg194Thr		191	0	0		174	0.14	24	NM_002449	87	0.26	23	D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072473	0.93950	.	.	ENSG00000120149	ENST00000239243	D	0.99158	-5.5	5.83	5.83	0.93111	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99674	0.9878	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97424	1.0011	10	0.87932	D	0	-23.6278	20.1133	0.97917	0.0:0.0:1.0:0.0	.	194	P35548	MSX2_HUMAN	T	194	ENSP00000239243:R194T	ENSP00000239243:R194T	R	+	2	0	MSX2	174088969	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.807000	0.99171	2.762000	0.94881	0.591000	0.81541	AGG			0.527	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252981.3				C	174156363	G	C	174156363	3	2	46	1	0	0	0	0	1	0	0	0	9912	1000	35	5	587	5	MSX2	5	174156363	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	17219941	174156363	6758897	22	3236											
POU5F1	5460	broad.mit.edu	37	chr6	31138067	31138067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtgcagggctccggggAggccccatcggagttgctct	5	7	17	12	3	1	0	0	0	1	0	3	3	2	2	3	6	2	4	3	6	0	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr6:31138067A>G	ENST00000259915.8	-	1	403	c.331T>C	c.(331-333)Tcc>Ccc	p.S111P	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	111					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)	GGCTCCGGGGAGGCCCCATCG	0.667			T	EWSR1	sarcoma																																p.S111P				Dom	yes		6	6p21.31	5460	"POU domain, class 5, transcription factor 1"		M	.	POU5F1	25		0			c.T331C												35	38	37					6																	31138067		1509	2708	4217	SO:0001583	missense	5460	exon1			CCGGGGAGGCCCC	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.331T>C	6.37:g.31138067A>G	ENSP00000259915:p.Ser111Pro		95	0.0315789474	3		118	0.03	3	NM_002701	5002	0	4	A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	ENST00000259915.8	37	CCDS34391.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.548|9.548	1.115244|1.115244	0.20795|0.20795	.|.	.|.	ENSG00000204531|ENSG00000204531	ENST00000448657|ENST00000259915	.|T	.|0.26223	.|1.75	3.96|3.96	3.96|3.96	0.45880|0.45880	.|.	.|0.000000	.|0.40302	.|N	.|0.001131	T|T	0.19725|0.19725	0.0474|0.0474	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|P	.|0.45531	.|0.86	.|P	.|0.52217	.|0.693	T|T	0.01367|0.01367	-1.1373|-1.1373	5|10	.|0.36615	.|T	.|0.2	.|.	9.3822|9.3822	0.38320|0.38320	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|111	.|Q01860	.|PO5F1_HUMAN	P|P	109|111	.|ENSP00000259915:S111P	.|ENSP00000259915:S111P	L|S	-|-	2|1	0|0	POU5F1|POU5F1	31246046|31246046	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.074000|0.074000	0.17049|0.17049	4.252000|4.252000	0.58785|0.58785	1.792000|1.792000	0.52537|0.52537	0.368000|0.368000	0.22195|0.22195	CTC|TCC			0.667	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076413.4		NM_002701		G	31138067	A	G	31138067	3	3	46	1	0	0	0	0	1	0	0	0	12298	304	11	4	771	4	POU5F1	6	31138067	Missense_Mutation	SNP	A	TCGA-2G-AAH3-01A-11D-A42Y-10		31138067	139977000	23	3237											
LRFN2	57497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	40360629	40360629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggttgttgaccacgaaggCcttgttggaggctgggatca	8	10	15	8	1	1	1	1	1	0	0	1	4	1	3	2	5	0	4	2	5	1	4			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr6:40360629C>A	ENST00000338305.6	-	3	1965	c.1423G>T	c.(1423-1425)Gcc>Tcc	p.A475S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	475	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCACGAAGGCCTTGTTGGAG	0.587																																					p.A475S													.	.			0			c.G1423T												43	45	44					6																	40360629		2203	4300	6503	SO:0001583	missense	57497	exon3			CGAAGGCCTTGTT	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1423G>T	6.37:g.40360629C>A	ENSP00000345985:p.Ala475Ser		69	0	0		61	0.26	16	NM_020737	0		0	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	c	5.675	0.309040	0.10733	.	.	ENSG00000156564	ENST00000338305	T	0.53206	0.63	5.29	4.42	0.53409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050382	0.85682	D	0.000000	T	0.11024	0.0269	N	0.12182	0.205	0.58432	D	0.999998	B	0.13594	0.008	B	0.20184	0.028	T	0.15093	-1.0449	10	0.02654	T	1	.	12.959	0.58447	0.0:0.9201:0.0:0.0799	.	475	Q9ULH4	LRFN2_HUMAN	S	475	ENSP00000345985:A475S	ENSP00000345985:A475S	A	-	1	0	LRFN2	40468607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.646000	0.37249	1.221000	0.43506	0.651000	0.88453	GCC			0.587	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040488.1		XM_166372		A	40360629	C	A	40360629	3	1	46	1	0	0	0	0	1	0	0	0	8954	739	26	2	950	2	LRFN2	6	40360629	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	9222562	40360629	130754438	24	3238											
ZNF451	26036	broad.mit.edu	37	chr6	57013354	57013354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccagtgtggctcattttgGatctgaaaaatcaaacctgt	12	12	8	9	0	3	1	2	1	1	0	3	2	3	2	2	2	1	1	2	2	3	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr6:57013354G>T	ENST00000370706.4	+	10	2715	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V	RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.G824V|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.G824V|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	824					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)			GCTCATTTTGGATCTGAAAAA	0.403																																					p.G824V													.	ZNF451	181		0			c.G2471T												86	83	84					6																	57013354		2203	4300	6503	SO:0001583	missense	26036	exon10			ATTTTGGATCTGA	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.2471G>T	6.37:g.57013354G>T	ENSP00000359740:p.Gly824Val		227	0.0044052863	1		241	0.02	5	NM_001031623	64	0	0	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	7.251	0.603141	0.13939	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.20200	2.1;2.09;2.09	5.32	2.48	0.30137	.	0.461480	0.21347	N	0.076025	T	0.10723	0.0262	L	0.57536	1.79	0.80722	D	1	P;B;B;B	0.34724	0.465;0.265;0.265;0.391	B;B;B;B	0.33521	0.165;0.107;0.107;0.107	T	0.03840	-1.0999	10	0.62326	D	0.03	-0.8407	11.2362	0.48942	0.0688:0.3785:0.5527:0.0	.	824;824;824;824	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	V	824	ENSP00000359740:G824V;ENSP00000350083:G824V;ENSP00000421645:G824V	ENSP00000350083:G824V	G	+	2	0	ZNF451	57121313	0.231000	0.23751	0.024000	0.17045	0.382000	0.30200	2.026000	0.41069	0.291000	0.22468	0.650000	0.86243	GGA			0.403	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041035.2		NM_015555		T	57013354	G	T	57013354	3	4	46	1	0	0	0	0	1	0	0	0	17945	1174	41	3	2509	3	ZNF451	6	57013354	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	16652725	57013354	114101713	25	3239											
KLHL32	114792	hgsc.bcm.edu	37	chr6	97424037	97424037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggcagtcctagcagcatGcagtgactatttccgggtaa	11	9	11	10	1	0	1	0	1	0	0	2	1	2	1	2	2	3	5	2	2	4	4			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr6:97424037G>T	ENST00000369261.4	+	3	551	c.188G>T	c.(187-189)tGc>tTc	p.C63F	KLHL32_ENST00000539200.1_Missense_Mutation_p.C63F|KLHL32_ENST00000536676.1_Missense_Mutation_p.C63F|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	63	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									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)		CTAGCAGCATGCAGTGACTAT	0.468																																					p.C63F													.	.			0			c.G188T												95	75	82					6																	97424037		2203	4300	6503	SO:0001583	missense	114792	exon3			CAGCATGCAGTGA	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.188G>T	6.37:g.97424037G>T	ENSP00000358265:p.Cys63Phe		89	0	0		77	0.05	4	NM_052904	0		0	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988123	0.74589	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.74627	0.3741	L	0.51853	1.615	0.80722	D	1	D;D;P;D	0.71674	0.998;0.992;0.883;0.996	D;D;P;D	0.74023	0.971;0.982;0.691;0.914	T	0.76740	-0.2848	10	0.87932	D	0	.	18.7846	0.91949	0.0:0.0:1.0:0.0	.	63;63;63;63	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	F	63	ENSP00000358265:C63F;ENSP00000440382:C63F;ENSP00000441527:C63F;ENSP00000358258:C63F	ENSP00000358258:C63F	C	+	2	0	KLHL32	97530758	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	9.263000	0.95617	2.674000	0.91012	0.591000	0.81541	TGC			0.468	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041570.1		NM_052904		T	97424037	G	T	97424037	3	4	46	1	0	0	0	0	1	0	0	0	8401	1319	46	2	194	2	KLHL32	6	97424037	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	40410683	97424037	73691030	26	3240											
PBOV1	59351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	138539259	138539259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatttcattgaggaacCtttcatggtcaagtgtgtct	10	14	10	7	0	4	1	3	1	1	0	4	3	4	3	1	3	2	0	1	3	3	3			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr6:138539259C>A	ENST00000527246.2	-	1	368	c.274G>T	c.(274-276)Ggt>Tgt	p.G92C	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	92						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		ATTGAGGAACCTTTCATGGTC	0.393																																					p.G92C													.	.			0			c.G274T												268	267	268					6																	138539259		2203	4300	6503	SO:0001583	missense	59351	exon1			AGGAACCTTTCAT	AF189269	CCDS5190.1	6q23.3	2012-02-09			ENSG00000254440	ENSG00000254440			21079	protein-coding gene	gene with protein product		605669				12553037, 11156405	Standard	NM_021635		Approved	UC28, UROC28	uc003qhv.3	Q9GZY1	OTTHUMG00000167040	ENST00000527246.2:c.274G>T	6.37:g.138539259C>A	ENSP00000432353:p.Gly92Cys		153	0	0		189	0.19	36	NM_021635	0		0		Missense_Mutation	SNP	ENST00000527246.2	37	CCDS5190.1	.	.	.	.	.	.	.	.	.	.	C	2.603	-0.292526	0.05568	.	.	ENSG00000254440	ENST00000527246	T	0.50813	0.73	3.02	1.12	0.20585	.	.	.	.	.	T	0.08846	0.0219	N	0.08118	0	0.09310	N	1	P	0.38617	0.64	B	0.33254	0.16	T	0.11084	-1.0602	9	0.87932	D	0	.	4.0686	0.09872	0.0:0.6085:0.2469:0.1446	.	92	Q9GZY1	PBOV1_HUMAN	C	92	ENSP00000432353:G92C	ENSP00000432353:G92C	G	-	1	0	PBOV1	138580952	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.132000	0.10467	0.137000	0.18759	-0.175000	0.13238	GGT			0.393	PBOV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392617.1		NM_021635		A	138539259	C	A	138539259	3	1	46	1	0	0	0	0	1	0	0	0	11507	681	24	3	137	3	PBOV1	6	138539259	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	41115222	138539259	32575808	27	3241											
MAGI2	9863	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	77755017	77755017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagactgttcttaccctcatCctcccattccttattgctgg	6	15	6	14	0	2	1	1	0	1	1	5	2	5	1	4	1	2	2	4	1	2	5			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr7:77755017C>G	ENST00000354212.4	-	20	3814	c.3561G>C	c.(3559-3561)agG>agC	p.R1187S	MAGI2_ENST00000419488.1_Missense_Mutation_p.R1173S|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1187S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1187	PDZ 6. {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)				TTACCCTCATCCTCCCATTCC	0.423																																					p.R1187S													.	.			0			c.G3561C												175	166	169					7																	77755017		2203	4300	6503	SO:0001583	missense	9863	exon20			CCTCATCCTCCCA	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.3561G>C	7.37:g.77755017C>G	ENSP00000346151:p.Arg1187Ser		176	0	0		272	0.09	24	NM_012301	0		0	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432541	0.62844	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.19669	2.13;2.13;2.13	6.03	0.201	0.15186	PDZ/DHR/GLGF (4);	0.000000	0.40728	U	0.001037	T	0.41858	0.1177	M	0.76574	2.34	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.91635	0.994;0.999;0.996	T	0.28490	-1.0042	10	0.52906	T	0.07	.	11.6865	0.51490	0.0:0.5256:0.0:0.4744	.	1187;1173;1187	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	1173;1187;1187;1187	ENSP00000405766:R1173S;ENSP00000346151:R1187S;ENSP00000428389:R1187S	ENSP00000346151:R1187S	R	-	3	2	MAGI2	77592953	0.945000	0.32115	0.998000	0.56505	0.975000	0.68041	0.148000	0.16224	0.091000	0.17302	-0.794000	0.03295	AGG			0.423	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253197.3		NM_012301		G	77755017	C	G	77755017	3	3	46	1	0	0	0	0	1	0	0	0	9207	854	30	5	818	5	MAGI2	7	77755017	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10		77755017	81383646	28	3242											
KLRG2	346689	mdanderson.org	37	chr7	139168165	139168165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggcacgcgcggggacccgGggcgaggcgaaggcggcttt	5	3	21	12	8	0	0	0	0	0	0	0	3	0	1	1	8	0	2	1	8	1	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr7:139168165G>T	ENST00000340940.4	-	1	293	c.224C>A	c.(223-225)cCc>cAc	p.P75H	KLRG2_ENST00000393039.2_Missense_Mutation_p.P75H	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	75	Pro-rich.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CGGGGACCCGGGGCGAGGCGA	0.741																																					p.P75H													.	.			0			c.C224A												4	6	6					7																	139168165		1682	3643	5325	SO:0001583	missense	346689	exon1			GACCCGGGGCGAG	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"Killer cell lectin-like receptors", "C-type lectin domain containing"	24778	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member B"						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.224C>A	7.37:g.139168165G>T	ENSP00000339356:p.Pro75His		14	0	0		22	0.09	2	NM_198508	88	0	0	Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981292	0.53827	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.53206	3.78;0.63	3.71	2.83	0.33086	.	0.326738	0.18433	U	0.141393	T	0.49355	0.1552	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.64237	0.923;0.923	T	0.29549	-1.0008	10	0.87932	D	0	-3.5895	6.907	0.24315	0.1311:0.0:0.8689:0.0	.	75;75	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	H	75	ENSP00000339356:P75H;ENSP00000376759:P75H	ENSP00000339356:P75H	P	-	2	0	KLRG2	138818705	0.017000	0.18338	0.004000	0.12327	0.023000	0.10783	1.115000	0.31209	0.745000	0.32763	0.484000	0.47621	CCC			0.741	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349433.1		NM_198508		T	139168165	G	T	139168165	3	4	46	1	0	0	0	0	1	0	0	0	8437	1232	43	3	1025	3	KLRG2	7	139168165	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	61413148	139168165	19970498	29	3243											
RP1L1	94137	broad.mit.edu	37	chr8	10465179	10465179	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctacaccttctgactcAggctgggcctccccttcagc	5	10	8	18	0	4	1	2	1	2	0	5	1	5	1	5	2	2	1	5	2	1	3			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr8:10465179A>T	ENST00000382483.3	-	4	6652	c.6429T>A	c.(6427-6429)ccT>ccA	p.P2143P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2223	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTGACTCAGGCTGGGCCT	0.612																																					p.P2143P													.	RP1L1	453		0			c.T6429A												158	172	167					8																	10465179		1908	4113	6021	SO:0001819	synonymous_variant	94137	exon4			TGACTCAGGCTGG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6429T>A	8.37:g.10465179A>T			148	0.0067567568	1		178	0.04	8	NM_178857	0		0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																					0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375673.1				T	10465179	A	T	10465179	2	4	46	1	0	0	0	0	0	0	0	1	13556	175	7	5		5	RP1L1	8	10465179	Silent	SNP	A	TCGA-2G-AAH3-01A-11D-A42Y-10		10465179	135898843	30	3244											
C8orf79	57604	broad.mit.edu	37	chr8	12879537	12879537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtatcattgcagagaaaaAgagaggttgtgattgattgg	13	12	14	2	0	1	4	1	2	0	2	1	6	1	4	0	2	1	3	0	2	3	5			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr8:12879537A>G	ENST00000524591.2	+	5	1838	c.1349A>G	c.(1348-1350)aAg>aGg	p.K450R	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	450							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCAGAGAAAAAGAGAGGTTGT	0.433																																					p.K450R													.	KIAA1456	20		0			c.A1349G												55	51	52					8																	12879537		1861	4093	5954	SO:0001583	missense	57604	exon5			AGAAAAAGAGAGG	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.1349A>G	8.37:g.12879537A>G	ENSP00000432695:p.Lys450Arg		155	0.0064516129	1		181	0.03	5	NM_020844	3	0	0	Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	A	5.869	0.344408	0.11126	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.11277	2.79	4.74	2.18	0.27775	.	0.345165	0.32444	N	0.006097	T	0.05868	0.0153	L	0.28400	0.85	0.23585	N	0.997351	B	0.12630	0.006	B	0.12156	0.007	T	0.41980	-0.9478	10	0.11182	T	0.66	-32.7146	3.9918	0.09539	0.6615:0.0:0.1822:0.1563	.	450	Q9P272	K1456_HUMAN	R	450;363	ENSP00000432695:K450R	ENSP00000432695:K450R	K	+	2	0	AC135352.2	12923908	0.972000	0.33761	0.720000	0.30636	0.641000	0.38312	0.730000	0.26043	0.352000	0.24053	0.528000	0.53228	AAG			0.433	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383262.2		NM_001099677		G	12879537	A	G	12879537	3	3	46	1	0	0	0	0	1	0	0	0	2440	72	3	4	1359	4	C8orf79	8	12879537	Missense_Mutation	SNP	A	TCGA-2G-AAH3-01A-11D-A42Y-10	2414358	12879537	133484485	31	3245											
PHYHIP	9796	broad.mit.edu	37	chr8	22079280	22079280	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggagtcctgcgggggctgGcccgtgttgaactccgtgtt	3	10	18	10	3	0	1	0	1	0	0	2	2	2	2	3	5	2	3	3	5	1	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr8:22079280G>T	ENST00000321613.3	-	6	1035	c.579C>A	c.(577-579)ggC>ggA	p.G193G	PHYHIP_ENST00000454243.2_Silent_p.G193G	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	193										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCGGGGGCTGGCCCGTGTTGA	0.622																																					p.G193G													.	PHYHIP	24		0			c.C579A												16	22	20					8																	22079280		1977	4149	6126	SO:0001819	synonymous_variant	9796	exon5			GGGCTGGCCCGTG	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.579C>A	8.37:g.22079280G>T			106	0.0094339623	1		147	0.04	6	NM_014759	3	0	0	D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	CCDS43723.1																																																																																					0.622	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000375388.1		NM_014759		T	22079280	G	T	22079280	2	4	46	1	0	0	0	0	0	0	0	1	11883	1190	42	2		2	PHYHIP	8	22079280	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	9199743	22079280	124284742	32	3246											
FAM83H	286077	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	144810755	144810755	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggcataggcgtccatgcgGgccagggccgcggccgaggg	6	3	20	12	5	0	0	0	0	0	0	1	1	1	0	4	6	1	1	4	6	1	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr8:144810755G>T	ENST00000388913.3	-	5	1001	c.876C>A	c.(874-876)gcC>gcA	p.A292A		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	292					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)			CGTCCATGCGGGCCAGGGCCG	0.697																																					p.A292A													.	.			0			c.C876A												10	12	11					8																	144810755		1937	4101	6038	SO:0001819	synonymous_variant	286077	exon5			CATGCGGGCCAGG	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.876C>A	8.37:g.144810755G>T			48	0	0		56	0.09	5	NM_198488	1	0	0	A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	CCDS6410.2																																																																																					0.697	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257632.2		NM_198488		T	144810755	G	T	144810755	2	4	46	1	0	0	0	0	0	0	0	1	5653	1219	43	3		3	FAM83H	8	144810755	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	122731475	144810755	1553267	33	3247											
EXOSC4	54512	mdanderson.org	37	chr8	145135472	145135472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgagtggtccggcagcatGtgcgtgaggcctctatcttg	6	11	14	10	3	2	1	0	1	2	0	4	2	3	1	2	3	2	2	2	3	1	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr8:145135472G>T	ENST00000316052.5	+	3	809	c.706G>T	c.(706-708)Gtg>Ttg	p.V236L	GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA|GPAA1_ENST00000355091.4_5'Flank	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	236					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|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)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGGCAGCATGTGCGTGAGGC	0.617																																					p.V236L													.	.			0			c.G706T												61	69	66					8																	145135472		2203	4300	6503	SO:0001583	missense	54512	exon3			CAGCATGTGCGTG	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"exosome component Rrp41"	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.706G>T	8.37:g.145135472G>T	ENSP00000315476:p.Val236Leu		12	0	0		12	0.17	2	NM_019037	50	0	0		Missense_Mutation	SNP	ENST00000316052.5	37	CCDS6414.1	.	.	.	.	.	.	.	.	.	.	G	4.663	0.123198	0.08931	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T	0.70631	-0.5	5.38	5.38	0.77491	.	0.079119	0.52532	D	0.000079	T	0.47210	0.1433	N	0.10685	0.025	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44651	-0.9314	10	0.11182	T	0.66	-2.3491	11.677	0.51436	0.0:0.0:0.8229:0.1771	.	236	Q9NPD3	EXOS4_HUMAN	L	236;259	ENSP00000315476:V236L	ENSP00000315476:V236L	V	+	1	0	EXOSC4	145207460	0.998000	0.40836	0.978000	0.43139	0.931000	0.56810	2.731000	0.47343	2.531000	0.85337	0.561000	0.74099	GTG			0.617	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384065.1		NM_019037		T	145135472	G	T	145135472	3	4	46	1	0	0	0	0	1	0	0	0	5324	1377	48	3	716	3	EXOSC4	8	145135472	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	324717	145135472	1228550	34	3248											
MPDZ	8777	broad.mit.edu	37	chr9	13217201	13217201	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttttatctccaatgtaGccagcaatggtaattcctaa	13	15	5	8	0	1	0	0	0	1	0	3	0	2	0	3	1	2	3	3	1	7	7			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr9:13217201G>T	ENST00000319217.7	-	9	1426	c.1179C>A	c.(1177-1179)ggC>ggA	p.G393G	MPDZ_ENST00000546205.1_Silent_p.G393G|MPDZ_ENST00000541718.1_Silent_p.G393G|MPDZ_ENST00000536827.1_Silent_p.G393G|MPDZ_ENST00000381015.4_Silent_p.G393G|MPDZ_ENST00000447879.1_Silent_p.G393G|MPDZ_ENST00000381022.2_Silent_p.G393G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	393	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)		CTCCAATGTAGCCAGCAATGG	0.299																																					p.G393G													.	MPDZ	324		0			c.C1179A												67	62	63					9																	13217201		1803	4056	5859	SO:0001819	synonymous_variant	8777	exon9			AATGTAGCCAGCA	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.1179C>A	9.37:g.13217201G>T			212	0.0047169811	1		247	0.02	6	NM_003829	28	0	0	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																						0.299	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000055485.2		NM_003829		T	13217201	G	T	13217201	2	4	46	1	0	0	0	0	0	0	0	1	9738	958	34	2		2	MPDZ	9	13217201	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10		13217201	127996230	35	3249											
C9orf96	169436	mdanderson.org	37	chr9	136270539	136270539	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccacgtctgggggactGgaatagatgtttgtatggaa	10	11	14	6	1	1	1	0	0	1	1	1	4	1	4	1	4	1	3	1	4	4	3	rs267602152		TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr9:136270539G>T	ENST00000371957.3	+	18	2144	c.2037G>T	c.(2035-2037)ctG>ctT	p.L679L	C9orf96_ENST00000371955.1_Silent_p.L212L	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		679							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGGGGGACTGGAATAGATGT	0.552																																					p.L679L													C9orf96_ENST00000371957,NS,carcinoma,+1,1	C9orf96_ENST00000371957	1	1	0			c.G2037T												35	36	36					9																	136270539		2203	4300	6503	SO:0001819	synonymous_variant	169436	exon18			GGGACTGGAATAG																												ENST00000371957.3:c.2037G>T	9.37:g.136270539G>T			8	0	0		24	0.17	4	NM_153710	1	0	0	Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	CCDS35169.1																																																																																					0.552	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054855.1				T	136270539	G	T	136270539	2	4	46	1	0	0	0	0	0	0	0	1	2510	1335	47	3		3	C9orf96	9	136270539	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	123053338	136270539	4942892	36	3250											
NCOA4	8031	broad.mit.edu	37	chr10	51585536	51585536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctgccaggaaagaaGatgggcaacctcagccagtt	11	7	13	10	0	1	2	1	0	0	2	2	3	2	3	4	3	3	2	4	3	3	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr10:51585536G>T	ENST00000443446.1	+	8	1864	c.1635G>T	c.(1633-1635)aaG>aaT	p.K545N	NCOA4_ENST00000374087.4_Missense_Mutation_p.K545N|NCOA4_ENST00000374082.1_Intron|NCOA4_ENST00000452682.1_Missense_Mutation_p.K561N|NCOA4_ENST00000414907.2_Missense_Mutation_p.K379N|NCOA4_ENST00000438493.1_Missense_Mutation_p.K561N|NCOA4_ENST00000430396.2_Missense_Mutation_p.K445N|NCOA4_ENST00000344348.6_Missense_Mutation_p.K545N	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	545					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAGGAAAGAAGATGGGCAACC	0.468			T	RET	papillary thyroid																																p.K561N				Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	.	NCOA4	58		0			c.G1683T												67	73	71					10																	51585536		2202	4297	6499	SO:0001583	missense	8031	exon9			AAAGAAGATGGGC	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1635G>T	10.37:g.51585536G>T	ENSP00000390713:p.Lys545Asn		65	0	0		62	0.08	5	NM_001145261	265	0	0	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	1.663	-0.510973	0.04231	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000443446	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.84	-1.23	0.09465	.	0.513015	0.22073	N	0.065003	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.001	B;B;B;B	0.08055	0.003;0.002;0.002;0.002	T	0.10753	-1.0616	9	.	.	.	-4.2204	1.5753	0.02623	0.237:0.3916:0.2015:0.1698	.	445;561;561;545	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	N	561;561;445;545;379;545;545	ENSP00000405146:K561N;ENSP00000395465:K561N;ENSP00000393053:K445N;ENSP00000363200:K545N;ENSP00000411018:K379N;ENSP00000344552:K545N;ENSP00000390713:K545N	.	K	+	3	2	NCOA4	51255542	0.039000	0.19947	0.257000	0.24404	0.459000	0.32528	-0.066000	0.11598	-0.108000	0.12066	0.650000	0.86243	AAG			0.468	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048052.1		NM_005437		T	51585536	G	T	51585536	3	4	46	1	0	0	0	0	1	0	0	0	10248	933	33	3	1713	3	NCOA4	10	51585536	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10		51585536	83949211	37	3251											
LRRTM3	347731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	68686864	68686864	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtatatctgctggttgcTtaggtttgtcccttcgctat	6	17	9	9	1	1	0	0	0	1	0	3	0	2	0	1	2	2	6	1	2	5	7			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr10:68686864T>A	ENST00000361320.4	+	2	768	c.190T>A	c.(190-192)Tta>Ata	p.L64I	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	64					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						TGCTGGTTGCTTAGGTTTGTC	0.418																																					p.L64I													.	.			0			c.T190A												121	126	124					10																	68686864		2203	4300	6503	SO:0001583	missense	347731	exon2			GGTTGCTTAGGTT	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.190T>A	10.37:g.68686864T>A	ENSP00000355187:p.Leu64Ile		95	0	0		69	0.16	11	NM_178011	0		0	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	2.956	-0.215641	0.06101	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.04406	3.63	5.53	4.4	0.53042	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.50627	D	0.000110	T	0.03136	0.0092	N	0.17800	0.525	0.35313	D	0.784112	B;B	0.06786	0.0;0.001	B;B	0.12156	0.0;0.007	T	0.41324	-0.9515	10	0.21014	T	0.42	.	5.7309	0.18038	0.1494:0.0804:0.0:0.7701	.	64;64	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	I	64	ENSP00000355187:L64I	ENSP00000355187:L64I	L	+	1	2	LRRTM3	68356870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.992000	0.40737	0.947000	0.37659	0.533000	0.62120	TTA			0.418	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048277.2		NM_178011		A	68686864	T	A	68686864	3	1	46	1	0	0	0	0	1	0	0	0	9057	1606	56	5	196	5	LRRTM3	10	68686864	Missense_Mutation	SNP	T	TCGA-2G-AAH3-01A-11D-A42Y-10	17101328	68686864	66847883	38	3252											
AP2A2	161	mdanderson.org	37	chr11	993799	993799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactccaagttccacctgtgCagcgtccccacccgcgcgct	6	7	8	20	4	0	0	0	0	0	0	3	0	3	0	6	0	2	3	6	0	1	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr11:993799C>T	ENST00000448903.2	+	13	1737	c.1596C>T	c.(1594-1596)tgC>tgT	p.C532C	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.C533C	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	532					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)		TCCACCTGTGCAGCGTCCCCA	0.652																																					p.C533C													.	.			0			c.C1599T												36	38	38					11																	993799		2168	4256	6424	SO:0001819	synonymous_variant	161	exon13			CCTGTGCAGCGTC	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.1596C>T	11.37:g.993799C>T			27	0	0		31	0.1	3	NM_001242837	133	0	0	O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	CCDS44512.1																																																																																					0.652	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000385431.2		NM_012305		T	993799	C	T	993799	2	4	46	1	0	0	0	0	0	0	0	1	740	718	25	2		2	AP2A2	11	993799	Silent	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10		993799	134012717	39	3253											
C11orf42	160298	broad.mit.edu	37	chr11	6231188	6231188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagtcccgcccagcccatAcccgcctggctttgccaggt	7	7	9	18	2	0	0	0	0	0	0	1	0	1	0	6	2	4	1	6	2	2	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr11:6231188A>C	ENST00000316375.2	+	2	231	c.181A>C	c.(181-183)Acc>Ccc	p.T61P	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	61										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCAGCCCATACCCGCCTGGC	0.617																																					p.T61P													.	C11orf42	35		0			c.A181C												77	67	70					11																	6231188		2201	4296	6497	SO:0001583	missense	160298	exon2			GCCCATACCCGCC	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.181A>C	11.37:g.6231188A>C	ENSP00000321021:p.Thr61Pro		93	0.2688172043	25		71	0.23	16	NM_173525	1	0	0		Missense_Mutation	SNP	ENST00000316375.2	37	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	A	6.998	0.554248	0.13374	.	.	ENSG00000180878	ENST00000316375	T	0.48522	0.81	5.35	1.6	0.23607	.	0.574450	0.16944	N	0.193178	T	0.29976	0.0750	N	0.19112	0.55	0.28108	N	0.931127	P	0.39883	0.693	B	0.41332	0.354	T	0.13548	-1.0505	10	0.52906	T	0.07	-8.9523	4.2553	0.10714	0.6039:0.0:0.0858:0.3102	.	61	Q8N5U0	CK042_HUMAN	P	61	ENSP00000321021:T61P	ENSP00000321021:T61P	T	+	1	0	C11orf42	6187764	0.107000	0.21998	1.000000	0.80357	0.958000	0.62258	0.072000	0.14617	0.449000	0.26747	0.477000	0.44152	ACC			0.617	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257227.2		NM_173525		C	6231188	A	C	6231188	3	2	46	1	0	0	0	0	1	0	0	0	1643	391	14	4	187	4	C11orf42	11	6231188	Missense_Mutation	SNP	A	TCGA-2G-AAH3-01A-11D-A42Y-10	5237389	6231188	128775328	40	3254											
RAB3IL1	5866	mdanderson.org	37	chr11	61669973	61669973	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccccgagccggattcGgtggcggcaggtgcgggtca	5	6	19	11	5	1	0	1	0	0	0	3	3	2	2	3	7	2	1	3	7	0	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr11:61669973G>T	ENST00000394836.2	-	8	1097	c.940C>A	c.(940-942)Cga>Aga	p.R314R	RAB3IL1_ENST00000301773.5_Silent_p.R288R	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	314					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R314*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						AGCCGGATTCGGTGGCGGCAG	0.632																																					p.R314R													RAB3IL1,NS,carcinoma,+1,2	RAB3IL1	1	2	1	Substitution - Nonsense(1)	large_intestine(1)	c.C940A												40	39	39					11																	61669973		2200	4299	6499	SO:0001819	synonymous_variant	5866	exon8			GGATTCGGTGGCG	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.940C>A	11.37:g.61669973G>T			65	0	0		57	0.05	3	NM_013401	24	0	0	Q86V32|Q9P1Q8	Silent	SNP	ENST00000394836.2	37	CCDS8014.1																																																																																					0.632	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394917.1		NM_013401		T	61669973	G	T	61669973	2	4	46	1	0	0	0	0	0	0	0	1	12960	1124	39	1		1	RAB3IL1	11	61669973	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	55438785	61669973	73336543	41	3255											
BSCL2	26580	mdanderson.org	37	chr11	62458260	62458260	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggctgcgccataccTgtccctgagggatcttcagg	5	11	14	11	1	2	1	1	1	1	0	3	2	3	2	3	4	2	1	3	4	1	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr11:62458260T>C	ENST00000403550.1	-	9	1383	c.960A>G	c.(958-960)acA>acG	p.T320T	BSCL2_ENST00000433053.1_Splice_Site_p.T384T|BSCL2_ENST00000405837.1_Splice_Site_p.T386T|BSCL2_ENST00000278893.7_Splice_Site_p.Q273R|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Splice_Site_p.T320T|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000407022.3_Splice_Site_p.T320T|BSCL2_ENST00000360796.5_Splice_Site_p.T384T			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	320					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GCGCCATACCTGTCCCTGAGG	0.572																																					p.Q273R													.	.			0			c.A818G												88	81	84					11																	62458260		2202	4299	6501	SO:0001630	splice_region_variant	26580	exon8			CATACCTGTCCCT		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.961+1A>G	11.37:g.62458260T>C			74	0	0		53	0.08	4	NM_001130702	244	0	0	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.874530	0.51695	.	.	ENSG00000168000	ENST00000278893	D	0.89746	-2.56	4.99	4.99	0.66335	.	.	.	.	.	D	0.91375	0.7279	.	.	.	0.80722	D	1	D	0.54964	0.969	P	0.55011	0.766	D	0.91961	0.5579	8	0.72032	D	0.01	-1.8831	10.9936	0.47563	0.0:0.0:0.0:1.0	.	273	Q96G97-3	.	R	273	ENSP00000278893:Q273R	ENSP00000278893:Q273R	Q	-	2	0	BSCL2	62214836	1.000000	0.71417	0.997000	0.53966	0.636000	0.38137	3.726000	0.54977	2.109000	0.64355	0.459000	0.35465	CAG			0.572	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000319185.1		NM_032667	Silent	C	62458260	T	C	62458260	5	2	46	1	0	0	0	0	0	0	1	0	1529	1594	55	4	248	4	BSCL2	11	62458260	Splice_Site	SNP	T	TCGA-2G-AAH3-01A-11D-A42Y-10	788287	62458260	72548256	42	3256											
CDC42EP2	10435	broad.mit.edu;mdanderson.org	37	chr11	65088569	65088569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagttccacctcctgccggGgaccatggtggaggggcctg	6	7	15	13	1	0	0	0	0	0	0	2	2	2	2	6	6	1	1	6	6	1	1	rs377014949		TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr11:65088569G>T	ENST00000544348.1	+	2	806	c.200G>T	c.(199-201)gGg>gTg	p.G67V	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.G67V|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.G67V			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	67					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CTCCTGCCGGGGACCATGGTG	0.647																																					p.G67V													.	CDC42EP2	13		0			c.G200T												75	73	73					11																	65088569		2201	4297	6498	SO:0001583	missense	10435	exon2			TGCCGGGGACCAT	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"CRIB-containing BOGR1 protein"	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.200G>T	11.37:g.65088569G>T	ENSP00000442534:p.Gly67Val		147	0	0		149	0.04	6	NM_006779	2	0	0	B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	37	CCDS8099.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425538	0.43020	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	D;D;D	0.85702	-2.02;-2.02;-2.02	5.23	5.23	0.72850	PAK-box/P21-Rho-binding (1);	0.000000	0.64402	D	0.000001	D	0.88224	0.6379	L	0.55743	1.74	0.80722	D	1	D	0.64830	0.994	D	0.63793	0.918	D	0.87374	0.2352	10	0.51188	T	0.08	-11.1984	9.6621	0.39960	0.0918:0.0:0.9082:0.0	.	67	O14613	BORG1_HUMAN	V	67	ENSP00000279249:G67V;ENSP00000431660:G67V;ENSP00000442534:G67V	ENSP00000279249:G67V	G	+	2	0	CDC42EP2	64845145	0.997000	0.39634	0.929000	0.37066	0.182000	0.23217	3.932000	0.56537	2.720000	0.93068	0.591000	0.81541	GGG			0.647	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387258.1		NM_006779		T	65088569	G	T	65088569	3	4	46	1	0	0	0	0	1	0	0	0	3078	1232	43	3	202	3	CDC42EP2	11	65088569	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	2630309	65088569	69917947	43	3257											
IGSF9B	22997	mdanderson.org	37	chr11	133805639	133805639	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatcgattaggatgcgCaccctcagcttcaggtcgct	7	10	10	14	3	2	0	2	0	0	0	5	2	3	1	2	2	2	3	2	2	1	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr11:133805639C>G	ENST00000321016.8	-	7	1070	c.840G>C	c.(838-840)gtG>gtC	p.V280V	IGSF9B_ENST00000533871.2_Silent_p.V280V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	280	Ig-like 3.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TTAGGATGCGCACCCTCAGCT	0.637																																					p.V280V													.	.			0			c.G840C												24	28	26					11																	133805639		2105	4208	6313	SO:0001819	synonymous_variant	22997	exon7			GATGCGCACCCTC	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.840G>C	11.37:g.133805639C>G			56	0	0		38	0.08	3	NM_014987	2	0	0	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																						0.637	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				XM_290502		G	133805639	C	G	133805639	2	3	46	1	0	0	0	0	0	0	0	1	7621	697	25	5		5	IGSF9B	11	133805639	Silent	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	68717070	133805639	1200877	44	3258											
CACNA1C	775	broad.mit.edu	37	chr12	2800309	2800309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggctgtgtgcgcgcgcggGgtcgaccgagtgaggaggag	5	5	22	9	7	0	1	0	1	0	0	1	5	0	3	1	5	1	1	1	5	0	0			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr12:2800309G>T	ENST00000347598.4	+	49	6505	c.6505G>T	c.(6505-6507)Ggt>Tgt	p.G2169C	CACNA1C_ENST00000335762.5_Missense_Mutation_p.G2146C|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G2121C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G2127C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G2129C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G2192C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G2121C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G2140C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G2156C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G2162C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.G2121C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G2140C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G2129C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G2121C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G2138C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G2141C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G2121C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G2121C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G2192C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G2149C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G2140C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G2156C|CACNA1C-AS1_ENST00000541673.1_RNA	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2204			A -> T.		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)	GCGCGCGCGGGGTCGACCGAG	0.627																																					p.G2204C													.	CACNA1C	1023		0			c.G6610T												21	28	25					12																	2800309		1961	4123	6084	SO:0001583	missense	775	exon50			GCGCGGGGTCGAC	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.6505G>T	12.37:g.2800309G>T	ENSP00000266376:p.Gly2169Cys		128	0	0		209	0.02	4	NM_199460	54	0	0	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	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	2.850	-0.238487	0.05944	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	4.49	3.57	0.40892	.	0.941163	0.08901	N	0.877252	T	0.40015	0.1100	N	0.02011	-0.69	0.09310	N	1	B;B;P;B;B;B;B;P;B;B;P;B;P;P;P;B;P;B;P;B;P;B;D;P;P	0.56287	0.26;0.004;0.525;0.0;0.001;0.001;0.001;0.927;0.0;0.0;0.853;0.0;0.525;0.948;0.698;0.001;0.525;0.0;0.853;0.0;0.933;0.001;0.975;0.924;0.525	B;B;B;B;B;B;B;P;B;B;P;B;B;P;B;B;B;B;P;B;P;B;P;P;B	0.52031	0.246;0.004;0.224;0.001;0.004;0.004;0.003;0.605;0.0;0.001;0.599;0.002;0.303;0.605;0.112;0.001;0.303;0.0;0.497;0.0;0.513;0.002;0.688;0.518;0.224	T	0.49466	-0.8937	10	0.34782	T	0.22	.	14.6908	0.69085	0.0:0.1462:0.8538:0.0	.	812;2162;2118;2204;2156;2140;2121;2138;2149;2121;2141;2121;2152;2169;2121;2156;2192;2129;2127;2129;2110;2140;2140;2121;2121	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	2146;2121;2121;2149;2121;2140;2140;2129;2121;2169;2141;2121;2162;2138;2156;2127;2140;2121;2192;2156;2192;2129;2022	ENSP00000336982:G2146C;ENSP00000382563:G2121C;ENSP00000382552:G2121C;ENSP00000382547:G2149C;ENSP00000382506:G2121C;ENSP00000382530:G2140C;ENSP00000382546:G2140C;ENSP00000382500:G2129C;ENSP00000382549:G2121C;ENSP00000266376:G2169C;ENSP00000382515:G2141C;ENSP00000382510:G2121C;ENSP00000341092:G2162C;ENSP00000382537:G2138C;ENSP00000329877:G2156C;ENSP00000382557:G2127C;ENSP00000385724:G2140C;ENSP00000382512:G2121C;ENSP00000382542:G2192C;ENSP00000382526:G2156C;ENSP00000385896:G2192C;ENSP00000382504:G2129C	ENSP00000323129:G2022C	G	+	1	0	CACNA1C	2670570	1.000000	0.71417	0.005000	0.12908	0.022000	0.10575	2.052000	0.41316	1.200000	0.43188	0.591000	0.81541	GGT			0.627	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317035.1		NM_000719		T	2800309	G	T	2800309	3	4	46	1	0	0	0	0	1	0	0	0	2542	1232	43	3	7256	3	CACNA1C	12	2800309	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10		2800309	131051586	45	3259											
SYCP3	50511	mdanderson.org	37	chr12	102127445	102127445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaatattcttggttaaGcttctgcctgtaaaacataa	13	14	7	7	0	2	1	0	1	2	1	2	2	2	1	1	1	3	3	1	1	6	7			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr12:102127445G>T	ENST00000392927.3	-	6	492	c.361C>A	c.(361-363)Ctt>Att	p.L121I	SYCP3_ENST00000392924.1_Missense_Mutation_p.L121I|SYCP3_ENST00000266743.2_Missense_Mutation_p.L121I	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	121	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCTTGGTTAAGCTTCTGCCTG	0.303																																					p.L121I													.	.			0			c.C361A												102	94	96					12																	102127445		2203	4300	6503	SO:0001583	missense	50511	exon6			GGTTAAGCTTCTG	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.361C>A	12.37:g.102127445G>T	ENSP00000376658:p.Leu121Ile		45	0	0		44	0.07	3	NM_153694	259	0	0		Missense_Mutation	SNP	ENST00000392927.3	37	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	G	9.099	1.003774	0.19199	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.68	2.66	0.31614	.	0.074248	0.53938	D	0.000042	T	0.46833	0.1413	M	0.64630	1.985	0.29662	N	0.843118	B	0.33807	0.426	B	0.43508	0.422	T	0.43845	-0.9366	9	0.33940	T	0.23	-6.0415	5.3515	0.16038	0.0708:0.1245:0.5484:0.2564	.	121	Q8IZU3	SYCP3_HUMAN	I	121	.	ENSP00000266743:L121I	L	-	1	0	SYCP3	100651576	1.000000	0.71417	0.056000	0.19401	0.005000	0.04900	2.715000	0.47210	0.719000	0.32188	0.563000	0.77884	CTT			0.303	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316478.2		NM_153694		T	102127445	G	T	102127445	3	4	46	1	0	0	0	0	1	0	0	0	15457	971	34	2	365	2	SYCP3	12	102127445	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	99327136	102127445	31724450	46	3260											
PXMP2	5827	mdanderson.org	37	chr12	133277883	133277883	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagatgagggggggcttctgGccggcgctgaggatgaactg	8	7	19	7	2	1	4	0	3	1	1	1	5	1	5	1	6	1	2	1	6	2	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr12:133277883G>A	ENST00000317479.3	+	4	512	c.447G>A	c.(445-447)tgG>tgA	p.W149*	PXMP2_ENST00000428960.2_Nonsense_Mutation_p.W56*|PXMP2_ENST00000545677.1_Missense_Mutation_p.A21T|PXMP2_ENST00000539093.1_Missense_Mutation_p.A21T|RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.A21T|PXMP2_ENST00000543589.1_Intron	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	149						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)		GGGGCTTCTGGCCGGCGCTGA	0.612																																					p.W149X													.	.			0			c.G447A												62	70	67					12																	133277883		2203	4300	6503	SO:0001587	stop_gained	5827	exon4			CTTCTGGCCGGCG		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.447G>A	12.37:g.133277883G>A	ENSP00000321271:p.Trp149*		35	0	0		45	0.07	3	NM_018663	86	0.02	2		Nonsense_Mutation	SNP	ENST00000317479.3	37	CCDS9279.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.16|15.16	2.751951|2.751951	0.49362|0.49362	.|.	.|.	ENSG00000176894;ENSG00000176894;ENSG00000256632|ENSG00000176894	ENST00000545677;ENST00000539093;ENST00000537262|ENST00000317479;ENST00000428960	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.056499	.|0.85682	.|D	.|0.000000	T|.	0.41650|.	0.1168|.	.|.	.|.	.|.	0.34498|0.34498	D|D	0.705772|0.705772	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38929|.	-0.9638|.	5|.	0.87932|0.06757	D|T	0|0.87	.|.	16.8178|16.8178	0.85738|0.85738	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	21|149;56	.|.	ENSP00000444486:A21T|ENSP00000321271:W149X	A|W	+|+	1|3	0|0	RP13-672B3.2;PXMP2|PXMP2	131787956|131787956	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.135000|0.135000	0.20990|0.20990	7.995000|7.995000	0.88328|0.88328	2.650000|2.650000	0.89964|0.89964	0.514000|0.514000	0.50259|0.50259	GCC|TGG			0.612	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397553.1		NM_018663		A	133277883	G	A	133277883	4	1	46	1	0	0	0	0	0	1	0	0	12873	1212	42	2	461	2	PXMP2	12	133277883	Nonsense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	31150438	133277883	574012	47	3261											
ATP8A2	51761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr13	26436476	26436476	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaagcatgctgacctGgctggtgttttttggcatct	5	14	14	8	0	1	1	0	1	1	0	1	2	1	2	1	5	2	5	1	5	1	3			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr13:26436476G>A	ENST00000381655.2	+	33	3255	c.3113G>A	c.(3112-3114)tGg>tAg	p.W1038*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.W973*|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	998					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|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)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ATGCTGACCTGGCTGGTGTTT	0.527																																					p.W1038X													.	.			0			c.G3113A												166	155	158					13																	26436476		2020	4175	6195	SO:0001587	stop_gained	51761	exon33			TGACCTGGCTGGT	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3113G>A	13.37:g.26436476G>A	ENSP00000371070:p.Trp1038*		115	0	0		110	0.38	42	NM_016529	1	0	0	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Nonsense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	40	8.434176	0.98810	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2203	0.89899	0.0:0.0:1.0:0.0	.	.	.	.	X	1038;973;818	.	ENSP00000255283:W973X	W	+	2	0	ATP8A2	25334476	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	9.010000	0.93611	2.586000	0.87340	0.655000	0.94253	TGG			0.527	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044236.2		NM_016529		A	26436476	G	A	26436476	4	1	46	1	0	0	0	0	0	1	0	0	1193	1357	47	3	3243	3	ATP8A2	13	26436476	Nonsense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10		26436476	88733402	48	3262											
KBTBD6	89890	mdanderson.org	37	chr13	41705572	41705572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccccgagtatggatcaCagcagagaaagggatctctg	11	7	13	10	1	2	1	1	0	1	1	4	5	3	3	2	3	1	2	2	3	2	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr13:41705572C>T	ENST00000379485.1	-	1	1310	c.1076G>A	c.(1075-1077)tGt>tAt	p.C359Y	KBTBD6_ENST00000499385.2_Missense_Mutation_p.C293Y	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	359										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GTATGGATCACAGCAGAGAAA	0.507																																					p.C359Y													.	.			0			c.G1076A												96	96	96					13																	41705572		2203	4300	6503	SO:0001583	missense	89890	exon1			GGATCACAGCAGA	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1076G>A	13.37:g.41705572C>T	ENSP00000368799:p.Cys359Tyr		181	0.0110497238	2		208	0.07	15	NM_152903	48	0	0	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.564218	0.00134	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.60040	0.22;0.22	3.8	-1.25	0.09405	Kelch-type beta propeller (1);	0.199615	0.46145	N	0.000311	T	0.18467	0.0443	N	0.02181	-0.65	0.28572	N	0.910572	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.29549	-1.0008	10	0.02654	T	1	.	3.9259	0.09263	0.1713:0.3332:0.0:0.4955	.	293;359	F5GZN7;Q86V97	.;KBTB6_HUMAN	Y	359;293	ENSP00000368799:C359Y;ENSP00000444326:C293Y	ENSP00000368799:C359Y	C	-	2	0	KBTBD6	40603572	0.785000	0.28726	0.994000	0.49952	0.294000	0.27393	-0.179000	0.09768	-0.179000	0.10654	-0.379000	0.06801	TGT			0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044657.1		NM_152903		T	41705572	C	T	41705572	3	4	46	1	0	0	0	0	1	0	0	0	8012	478	17	3	952	3	KBTBD6	13	41705572	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	15269096	41705572	73464306	49	3263											
FAM158A	51016	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24608338	24608338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaagtccacaaggtgctGgtgggcccgatcttccagta	9	9	12	11	1	2	0	1	0	1	0	4	1	4	0	3	3	1	2	3	3	3	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr14:24608338G>T	ENST00000419198.2	-	5	788	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000216799.4_Missense_Mutation_p.Q170K|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000560403.1_Missense_Mutation_p.Q96K			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	170						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											ACAAGGTGCTGGTGGGCCCGA	0.557																																					p.Q170K													.	.			0			c.C508A												108	103	104					14																	24608338		2203	4300	6503	SO:0001583	missense	51016	exon6			GGTGCTGGTGGGC	BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 122", "family with sequence similarity 158, member A"	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.508C>A	14.37:g.24608338G>T	ENSP00000403210:p.Gln170Lys		196	0	0		268	0.18	47	NM_016049	56	0.13	7	D3DS60|Q9BUM3	Missense_Mutation	SNP	ENST00000419198.2	37	CCDS9613.1	.	.	.	.	.	.	.	.	.	.	g	11.42	1.633078	0.29068	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.39997	1.05;1.05	5.4	3.45	0.39498	.	0.475999	0.23245	N	0.050308	T	0.20700	0.0498	N	0.14661	0.345	0.27163	N	0.961119	B	0.27013	0.166	B	0.25291	0.059	T	0.17776	-1.0358	10	0.08381	T	0.77	-15.5678	8.4571	0.32906	0.0:0.1464:0.5638:0.2898	.	170	Q9Y3B6	F158A_HUMAN	K	170	ENSP00000403210:Q170K;ENSP00000216799:Q170K	ENSP00000216799:Q170K	Q	-	1	0	FAM158A	23678178	0.865000	0.29922	1.000000	0.80357	0.944000	0.59088	1.288000	0.33296	1.454000	0.47793	0.655000	0.94253	CAG			0.557	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071917.4		NM_016049		T	24608338	G	T	24608338	3	4	46	1	0	0	0	0	1	0	0	0	5477	1357	47	3	122	3	FAM158A	14	24608338	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10		24608338	82741202	50	3264											
DDHD1	80821	broad.mit.edu	37	chr14	53513556	53513556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgaaggttaaaagaaaaAgggcaacatccaaggatgac	20	5	10	6	0	0	3	0	2	0	1	1	4	1	4	1	3	1	2	1	3	7	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr14:53513556A>G	ENST00000323669.5	-	13	2632	c.2633T>C	c.(2632-2634)cTt>cCt	p.L878P	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000357758.3_Missense_Mutation_p.L850P|DDHD1_ENST00000395606.1_Missense_Mutation_p.L857P	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	878	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TAAAAGAAAAAGGGCAACATC	0.428																																					p.L878P													.	DDHD1	202		0			c.T2633C												151	131	138					14																	53513556		2203	4300	6503	SO:0001583	missense	0	exon13			AGAAAAAGGGCAA	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2633T>C	14.37:g.53513556A>G	ENSP00000327104:p.Leu878Pro		390	0.0051282051	2		443	0.01	4	NM_001160148	86	0	0	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434184	0.83776	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.92	5.92	0.95590	DDHD (2);	0.110472	0.64402	D	0.000007	T	0.77922	0.4203	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.977;0.997;0.986	T	0.78484	-0.2186	9	0.51188	T	0.08	-12.5987	16.3634	0.83296	1.0:0.0:0.0:0.0	.	857;878;850	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	P	878;857;850;749	.	ENSP00000327104:L878P	L	-	2	0	DDHD1	52583306	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.255000	0.78338	2.270000	0.75569	0.459000	0.35465	CTT			0.428	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000276901.1				G	53513556	A	G	53513556	3	3	46	1	0	0	0	0	1	0	0	0	4328	72	3	4	73	4	DDHD1	14	53513556	Missense_Mutation	SNP	A	TCGA-2G-AAH3-01A-11D-A42Y-10	28905218	53513556	53835984	51	3265											
CDKN3	1033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	54884583	54884583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtagctgcttgtctcctaCtatacctgtctgacacaata	10	14	6	11	0	2	1	0	1	2	0	3	1	2	1	2	0	4	3	2	0	7	7			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr14:54884583C>A	ENST00000543789.2	+	6	524	c.434C>A	c.(433-435)aCt>aAt	p.T145N	CDKN3_ENST00000442975.2_Missense_Mutation_p.L116I|CDKN3_ENST00000458126.2_Missense_Mutation_p.L155I|CDKN3_ENST00000335183.6_Missense_Mutation_p.L156I|CDKN3_ENST00000395577.2_Missense_Mutation_p.L110I|CDKN3_ENST00000556102.2_Missense_Mutation_p.L156I|CDKN3_ENST00000556305.1_3'UTR			Q00526	CDK3_HUMAN	cyclin-dependent kinase inhibitor 3	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|stomach(1)	3						TTGTCTCCTACTATACCTGTC	0.418																																					p.L156I	Pancreas(40;634 1012 9382 49950 52462)												.	.			0			c.C466A												79	61	67					14																	54884583		2203	4300	6503	SO:0001583	missense	1033	exon7			CTCCTACTATACC	U02681	CCDS9716.1, CCDS45109.1	14q22	2011-08-25	2008-08-01		ENSG00000100526	ENSG00000100526		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1791	protein-coding gene	gene with protein product	"kinase associated phosphatase", "cyclin-dependent kinase inhibitor", "CDK2-associated dual specificity phosphatase"	123832				8242750, 7698009	Standard	NM_005192		Approved	KAP, CDI1	uc001xap.3	Q16667	OTTHUMG00000140302	ENST00000543789.2:c.434C>A	14.37:g.54884583C>A	ENSP00000440404:p.Thr145Asn		150	0	0		186	0.06	11	NM_005192	94	0.14	13		Missense_Mutation	SNP	ENST00000543789.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.00|16.00	2.997472|2.997472	0.54147|0.54147	.|.	.|.	ENSG00000100526|ENSG00000100526	ENST00000335183;ENST00000442975;ENST00000458126;ENST00000556102;ENST00000439312;ENST00000395577|ENST00000543789	T;T;T;T;T|.	0.36520|.	1.97;1.97;1.25;1.97;1.97|.	6.17|6.17	5.29|5.29	0.74685|0.74685	Cyclin-dependent kinase inhibitor 3, bac/eukaryotic (1);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62514|0.62514	0.2434|0.2434	L|L	0.51422|0.51422	1.61|1.61	0.45150|0.45150	D|D	0.99816|0.99816	P;P;D|.	0.67145|.	0.821;0.946;0.996|.	P;P;D|.	0.75020|.	0.807;0.888;0.985|.	T|T	0.60551|0.60551	-0.7241|-0.7241	10|5	0.66056|.	D|.	0.02|.	-13.5043|-13.5043	13.7518|13.7518	0.62912|0.62912	0.0:0.9297:0.0:0.0703|0.0:0.9297:0.0:0.0703	.|.	116;151;156|.	Q16667-2;F8WDR6;Q16667|.	.;.;CDKN3_HUMAN|.	I|N	156;116;155;156;151;110|145	ENSP00000335357:L156I;ENSP00000415333:L116I;ENSP00000396451:L155I;ENSP00000450711:L156I;ENSP00000378944:L110I|.	ENSP00000216414:L55I|.	L|T	+|+	1|2	2|0	CDKN3|CDKN3	53954333|53954333	0.998000|0.998000	0.40836|0.40836	0.054000|0.054000	0.19295|0.19295	0.326000|0.326000	0.28443|0.28443	4.327000|4.327000	0.59247|0.59247	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	CTA|ACT			0.418	CDKN3-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000411154.1				A	54884583	C	A	54884583	3	1	46	1	0	0	0	0	1	0	0	0	3169	564	20	3	492	3	CDKN3	14	54884583	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	1371027	54884583	52464957	52	3266											
YLPM1	56252	broad.mit.edu	37	chr14	75230979	75230979	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagacaactgtccagcaaGagcctttggagagtggggcc	12	7	13	9	0	0	3	0	0	0	3	1	4	1	3	3	3	3	1	3	3	3	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr14:75230979G>T	ENST00000552421.1	+	1	911	c.787G>T	c.(787-789)Gag>Tag	p.E263*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.E263*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.E263*			P49750	YLPM1_HUMAN	YLP motif containing 1	263					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)		TGTCCAGCAAGAGCCTTTGGA	0.562																																					p.E263X													.	YLPM1	298		0			c.G787T												57	62	60					14																	75230979		1927	4150	6077	SO:0001587	stop_gained	56252	exon1			CAGCAAGAGCCTT	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.787G>T	14.37:g.75230979G>T	ENSP00000447921:p.Glu263*		93	0	0		125	0.04	5	NM_019589	84	0.01	1	P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.056324	0.76074	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	.	.	.	4.31	4.31	0.51392	.	0.142736	0.33023	N	0.005379	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-10.0162	9.5549	0.39332	0.0:0.0:0.7905:0.2095	.	.	.	.	X	263	.	ENSP00000238571:E263X	E	+	1	0	YLPM1	74300732	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	3.542000	0.53625	2.218000	0.71995	0.655000	0.94253	GAG			0.562	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000404450.1		NM_019589		T	75230979	G	T	75230979	4	4	46	1	0	0	0	0	0	1	0	0	17510	943	33	3	789	3	YLPM1	14	75230979	Nonsense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	20346396	75230979	32118561	53	3267											
BAHD1	22893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr15	40751683	40751684	+	Nonsense_Mutation	DNP	GG	GG	TT																															gagtcacctgcccctaagcaGgaactgcatcagccctcttt																										TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	GG	GG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr15:40751683_40751684GG>TT	ENST00000416165.1	+	2	1091_1092	c.1020_1021GG>TT	c.(1018-1023)caGGaa>caTTaa	p.340_341QE>H*	BAHD1_ENST00000561234.1_Nonsense_Mutation_p.340_341QE>H*|BAHD1_ENST00000560846.1_Nonsense_Mutation_p.340_341QE>H*	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	340	Pro-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCCTAAGCAGGAACTGCATCA	0.668																																					p.QE340H*													.	.			0			c.G1021T																																									SO:0001587	stop_gained	22893	exon2			TAAGCAGGAACTG	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	Exception_encountered	15.37:g.40751683_40751684delinsTT	ENSP00000396976:p.Q340_E341delinsH*		96	0	0		154	0.21	33	NM_014952	117	0	0	Q8NDF7|Q9Y2F4	Nonsense_Mutation	DNP	ENST00000416165.1	37	CCDS10058.1																																																																																					0.668	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252248.1		NM_014952		TT	40751684	GG	TT	40751683	4	4	46	1	0	0	0	0	0	1	0	0	1297	991	35	3	1022	3	BAHD1	15	40751683	Nonsense_Mutation	DNP	GG	TCGA-2G-AAH3-01A-11D-A42Y-10		40751683	61779709	54	3268											
VPS13C	54832	broad.mit.edu	37	chr15	62254066	62254066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcactcagagactctttGgctgtctggaaattattcag	10	12	10	9	0	4	1	2	0	2	1	4	3	4	2	0	2	1	3	0	2	2	3			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr15:62254066G>T	ENST00000261517.5	-	35	3703	c.3630C>A	c.(3628-3630)gcC>gcA	p.A1210A	VPS13C_ENST00000395896.4_Silent_p.A1210A|VPS13C_ENST00000395898.3_Silent_p.A1167A|VPS13C_ENST00000249837.3_Silent_p.A1167A	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						GAGACTCTTTGGCTGTCTGGA	0.423																																					p.A1210A													.	VPS13C	506		0			c.C3630A												45	48	47					15																	62254066		2203	4300	6503	SO:0001819	synonymous_variant	54832	exon35			CTCTTTGGCTGTC	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.3630C>A	15.37:g.62254066G>T			86	0	0		102	0.04	4	NM_020821	6	0	0		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																					0.423	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000415997.1		NM_017684		T	62254066	G	T	62254066	2	4	46	1	0	0	0	0	0	0	0	1	17215	1335	47	3		3	VPS13C	15	62254066	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	21502383	62254066	40277326	55	3269											
MAN2C1	4123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	75656927	75656927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcagctggaacatcttctCagggtcaggggctgcaatca	9	9	12	11	0	5	0	4	0	2	0	6	1	5	1	0	4	3	4	0	4	2	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr15:75656927C>T	ENST00000267978.5	-	5	548	c.502G>A	c.(502-504)Gag>Aag	p.E168K	MAN2C1_ENST00000569482.1_Missense_Mutation_p.E168K|MAN2C1_ENST00000563622.1_Missense_Mutation_p.E168K|MAN2C1_ENST00000565683.1_Missense_Mutation_p.E168K|MAN2C1_ENST00000563539.1_5'UTR	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	168					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						AACATCTTCTCAGGGTCAGGG	0.592																																					p.E168K													.	.			0			c.G502A												54	45	48					15																	75656927		2197	4294	6491	SO:0001583	missense	4123	exon5			TCTTCTCAGGGTC	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.502G>A	15.37:g.75656927C>T	ENSP00000267978:p.Glu168Lys		86	0	0		96	0.17	16	NM_001256494	64	0.16	10	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	c	13.57	2.275464	0.40294	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.17054	2.3	4.9	2.87	0.33458	.	0.234550	0.44902	D	0.000409	T	0.09202	0.0227	N	0.20986	0.625	0.34508	D	0.706791	P;B;B	0.35033	0.481;0.349;0.349	B;B;B	0.32465	0.146;0.07;0.07	T	0.23511	-1.0186	10	0.33141	T	0.24	-16.3639	5.488	0.16761	0.0:0.6555:0.1666:0.1778	.	168;168;168	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	K	168	ENSP00000267978:E168K	ENSP00000267978:E168K	E	-	1	0	MAN2C1	73443980	0.944000	0.32072	0.997000	0.53966	0.371000	0.29859	1.779000	0.38624	1.061000	0.40601	0.486000	0.48141	GAG			0.592	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419965.1				T	75656927	C	T	75656927	3	4	46	1	0	0	0	0	1	0	0	0	9234	835	29	3	2708	3	MAN2C1	15	75656927	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	13402861	75656927	26874465	56	3270											
SLCO3A1	28232	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	92671632	92671632	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccctgcaataataactgTgaatgccaaaccgattcctt	12	11	6	12	2	0	1	0	1	0	0	2	2	1	1	4	0	4	1	4	0	5	4			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr15:92671632T>C	ENST00000318445.6	+	7	1639	c.1425T>C	c.(1423-1425)tgT>tgC	p.C475C	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.C475C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	475	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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)	ATAATAACTGTGAATGCCAAA	0.532																																					p.C475C													.	.			0			c.T1425C												209	168	182					15																	92671632		2198	4298	6496	SO:0001819	synonymous_variant	28232	exon7			TAACTGTGAATGC	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.1425T>C	15.37:g.92671632T>C			111	0	0		148	0.04	6	NM_013272	16	0.13	2	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	CCDS10371.1																																																																																					0.532	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313529.1		NM_013272		C	92671632	T	C	92671632	2	2	46	1	0	0	0	0	0	0	0	1	14751	1702	59	4		4	SLCO3A1	15	92671632	Silent	SNP	T	TCGA-2G-AAH3-01A-11D-A42Y-10	17014705	92671632	9859760	57	3271											
HMOX2	3163	broad.mit.edu;mdanderson.org	37	chr16	4559436	4559436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgaactggaccaggcCggctccacactggccagaga	11	6	11	13	1	1	2	1	1	0	1	2	4	2	3	4	4	1	1	4	4	2	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr16:4559436C>T	ENST00000570646.1	+	5	1325	c.720C>T	c.(718-720)gcC>gcT	p.A240A	HMOX2_ENST00000398595.3_Silent_p.A240A|HMOX2_ENST00000458134.3_Silent_p.A240A|HMOX2_ENST00000575120.1_Silent_p.A211A|HMOX2_ENST00000219700.6_Silent_p.A240A|HMOX2_ENST00000414777.1_Silent_p.A240A|HMOX2_ENST00000406590.2_Silent_p.A240A	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	240					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						TGGACCAGGCCGGCTCCACAC	0.478																																					p.A240A													.	HMOX2	22		0			c.C720T												148	152	151					16																	4559436		2197	4300	6497	SO:0001819	synonymous_variant	3163	exon5			CCAGGCCGGCTCC		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.720C>T	16.37:g.4559436C>T			78	0	0		73	0.05	4	NM_001127205	205	0	0	A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	37	CCDS10517.1																																																																																					0.478	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251636.2				T	4559436	C	T	4559436	2	4	46	1	0	0	0	0	0	0	0	1	7259	639	23	1		1	HMOX2	16	4559436	Silent	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10		4559436	85795317	58	3272											
EEF2K	29904	broad.mit.edu	37	chr16	22291564	22291564	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactggtacaacactgccctGgagatgacggactgtgatga	11	8	12	10	1	0	4	0	3	0	1	0	6	0	5	1	3	3	1	1	3	2	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr16:22291564G>T	ENST00000263026.5	+	17	2409	c.1935G>T	c.(1933-1935)ctG>ctT	p.L645L		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	645					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)		ACACTGCCCTGGAGATGACGG	0.597																																					p.L645L	NSCLC(195;1411 2157 20319 27471 51856)												.	EEF2K	142		0			c.G1935T												100	82	88					16																	22291564		2197	4300	6497	SO:0001819	synonymous_variant	29904	exon17			TGCCCTGGAGATG	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.1935G>T	16.37:g.22291564G>T			109	0	0		87	0.03	3	NM_013302	22	0	0	Q8N588	Silent	SNP	ENST00000263026.5	37	CCDS10604.1																																																																																					0.597	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211580.2		NM_013302		T	22291564	G	T	22291564	2	4	46	1	0	0	0	0	0	0	0	1	4935	1335	47	3		3	EEF2K	16	22291564	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	17732128	22291564	68063189	59	3273											
EARS2	124454	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	23540942	23540942	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacaccaagtcctgcaggcgGcaaatgtgaccctggggaag	11	5	14	11	1	0	1	0	1	0	0	1	3	1	2	3	4	1	2	3	4	3	0			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr16:23540942G>A	ENST00000563459.1	-	7	1239	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	EARS2_ENST00000449606.1_Silent_p.C411C|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.C411C|EARS2_ENST00000563232.1_Silent_p.C411C			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	411					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CCTGCAGGCGGCAAATGTGAC	0.582																																					p.C411C													.	EARS2	26		0			c.C1233T												54	57	56					16																	23540942		2040	4205	6245	SO:0001819	synonymous_variant	124454	exon7			CAGGCGGCAAATG	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1233C>T	16.37:g.23540942G>A			126	0.0079365079	1		89	0.27	24	NM_001083614	68	0.35	24	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	CCDS42132.1																																																																																					0.582	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434844.1		NM_133451		A	23540942	G	A	23540942	2	1	46	1	0	0	0	0	0	0	0	1	4883	1195	42	2		2	EARS2	16	23540942	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	1249378	23540942	66813811	60	3274											
ZNF629	23361	mdanderson.org	37	chr16	30794137	30794137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccatgtgcgtgcggacGtgggtaataaggttggagct	7	11	16	7	4	0	0	0	0	0	0	2	2	1	2	1	4	3	3	1	4	2	3	rs189318984	byFrequency	TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr16:30794137G>T	ENST00000262525.4	-	3	1719	c.1512C>A	c.(1510-1512)caC>caA	p.H504Q	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	504					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)			GCGTGCGGACGTGGGTAATAA	0.627																																					p.H504Q													.	.			0			c.C1512A												64	70	68					16																	30794137		2197	4300	6497	SO:0001583	missense	23361	exon3			GCGGACGTGGGTA	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.1512C>A	16.37:g.30794137G>T	ENSP00000262525:p.His504Gln		61	0.0163934426	1		36	0.08	3	NM_001080417	0		0	Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366545	0.41902	.	.	ENSG00000102870	ENST00000262525	T	0.77489	-1.1	5.79	-4.28	0.03732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000254	D	0.89121	0.6625	H	0.95470	3.675	0.26777	N	0.969682	D	0.76494	0.999	D	0.76071	0.987	D	0.84442	0.0583	10	0.72032	D	0.01	-32.1058	13.9915	0.64369	0.4928:0.0:0.5072:0.0	.	504	Q9UEG4	ZN629_HUMAN	Q	504	ENSP00000262525:H504Q	ENSP00000262525:H504Q	H	-	3	2	ZNF629	30701638	0.112000	0.22096	0.647000	0.29507	0.818000	0.46254	0.295000	0.19065	-0.624000	0.05611	-0.254000	0.11334	CAC			0.627	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434291.1		NM_015309		T	30794137	G	T	30794137	3	4	46	1	0	0	0	0	1	0	0	0	18076	1136	40	1	1101	1	ZNF629	16	30794137	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	7253195	30794137	59560616	61	3275											
KRTAP4-11	653240	mdanderson.org	37	chr17	39274238	39274238	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacacagcagctggggcgAcagcagctggagatgcagca	12	3	15	11	1	0	1	0	0	0	1	0	4	0	1	0	3	6	6	0	3	0	0			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr17:39274238A>G	ENST00000391413.2	-	1	368	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agctggggcgacagcagctgg	0.652																																					p.C110C													.	.			0			c.T330C												5	9	8					17																	39274238		657	1550	2207	SO:0001819	synonymous_variant	653240	exon1			GGGGCGACAGCAG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.330T>C	17.37:g.39274238A>G			25	0	0		24	0.13	3	NM_033059	0		0	A0AUY2	Silent	SNP	ENST00000391413.2	37	CCDS45675.1																																																																																					0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257690.1				G	39274238	A	G	39274238	2	3	46	1	0	0	0	0	0	0	0	1	8564	273	10	4		4	KRTAP4-11	17	39274238	Silent	SNP	A	TCGA-2G-AAH3-01A-11D-A42Y-10		39274238	41920972	62	3276											
PYY	5697	mdanderson.org	37	chr17	42030492	42030492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccgcgacctgacggggCggtcctcgccgtcggggaag	5	7	16	13	7	0	1	0	1	0	0	3	3	1	2	4	5	1	0	4	5	2	2			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr17:42030492C>T	ENST00000360085.2	-	6	794	c.254G>A	c.(253-255)cGc>cAc	p.R85H	PYY_ENST00000592796.1_Missense_Mutation_p.R85H	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	85					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCTGACGGGGCGGTCCTCGCC	0.622																																					p.R85H													.	.			0			c.G254A												53	59	57					17																	42030492		2203	4300	6503	SO:0001583	missense	5697	exon6			ACGGGGCGGTCCT		CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"Endogenous ligands"	9748	protein-coding gene	gene with protein product	"prepro-PYY"	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.254G>A	17.37:g.42030492C>T	ENSP00000353198:p.Arg85His		138	0	0		121	0.05	6	NM_004160	356	0	0	Q5U5Q6|Q6FGH8	Missense_Mutation	SNP	ENST00000360085.2	37	CCDS32662.1	.	.	.	.	.	.	.	.	.	.	C	5.576	0.291068	0.10567	.	.	ENSG00000131096	ENST00000360085	T	0.14516	2.5	4.58	-1.09	0.09904	.	.	.	.	.	T	0.04634	0.0126	.	.	.	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.43360	-0.9396	8	0.13108	T	0.6	.	0.3766	0.00388	0.2588:0.3339:0.166:0.2412	.	85	P10082	PYY_HUMAN	H	85	ENSP00000353198:R85H	ENSP00000353198:R85H	R	-	2	0	PYY	39386018	0.001000	0.12720	0.002000	0.10522	0.107000	0.19398	-0.054000	0.11826	0.213000	0.20722	0.561000	0.74099	CGC			0.622	PYY-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000457658.1		NM_004160		T	42030492	C	T	42030492	3	4	46	1	0	0	0	0	1	0	0	0	12891	768	27	1	47	1	PYY	17	42030492	Missense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	2756254	42030492	39164718	63	3277											
C18orf34	374864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	30913247	30913247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtctgcttgaatctttGcatttgcttcttctaactct	6	20	5	10	0	5	1	0	1	5	0	5	1	5	1	0	0	4	3	0	0	3	7			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr18:30913247G>C	ENST00000383096.3	-	10	952	c.770C>G	c.(769-771)gCa>gGa	p.A257G	CCDC178_ENST00000402325.1_Missense_Mutation_p.A257G|CCDC178_ENST00000406524.2_Missense_Mutation_p.A257G|CCDC178_ENST00000300227.8_Missense_Mutation_p.A257G|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.A257G|CCDC178_ENST00000583930.1_Missense_Mutation_p.A257G|CCDC178_ENST00000579947.1_Missense_Mutation_p.A257G			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	257																	TTGAATCTTTGCATTTGCTTC	0.333																																					p.A257G													.	.			0			c.C770G												252	219	230					18																	30913247		2203	4300	6503	SO:0001583	missense	374864	exon9			ATCTTTGCATTTG	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.770C>G	18.37:g.30913247G>C	ENSP00000372576:p.Ala257Gly		167	0	0		131	0.29	38	NM_001105528	0		0	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872818	0.33069	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.46451	2.46;2.46;2.46;2.46;2.46;0.87	5.32	-0.055	0.13811	.	.	.	.	.	T	0.24851	0.0603	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.09022	0.001;0.002;0.001;0.002	B;B;B;B	0.09377	0.003;0.004;0.003;0.004	T	0.23048	-1.0199	9	0.16420	T	0.52	-0.8436	0.8678	0.01207	0.1814:0.1732:0.3439:0.3015	.	257;257;257;257	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	G	257	ENSP00000385591:A257G;ENSP00000372576:A257G;ENSP00000300227:A257G;ENSP00000385867:A257G;ENSP00000385234:A257G;ENSP00000382130:A257G	ENSP00000300227:A257G	A	-	2	0	C18orf34	29167245	0.000000	0.05858	0.008000	0.14137	0.674000	0.39518	-0.419000	0.07071	0.263000	0.21812	-0.252000	0.11476	GCA			0.333	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255373.2		NM_198995		C	30913247	G	C	30913247	3	2	46	1	0	0	0	0	1	0	0	0	1904	1319	46	5	1889	5	C18orf34	18	30913247	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10		30913247	47164001	64	3278											
SALL3	27164	bcgsc.ca	37	chr18	76754583	76754583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaccggcctcaagtcCgtggagaacgggtccgggga	8	5	16	12	4	1	2	1	1	0	1	3	4	3	3	4	5	2	1	4	5	2	0			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr18:76754583C>T	ENST00000537592.2	+	2	2592	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S	SALL3_ENST00000536229.3_Silent_p.S731S|SALL3_ENST00000575389.2_Silent_p.S864S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	864					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)		GCCTCAAGTCCGTGGAGAACG	0.682																																					p.S864S													SALL3,NS,carcinoma,0,1	SALL3	162	1	0			c.C2592T												40	41	41					18																	76754583		2200	4292	6492	SO:0001819	synonymous_variant	27164	exon2			CAAGTCCGTGGAG	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.2592C>T	18.37:g.76754583C>T			67	0	0		46	0.09	4	NM_171999	0		0	Q9UGH1	Silent	SNP	ENST00000537592.2	37	CCDS12013.1																																																																																					0.682	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256397.1		NM_171999		T	76754583	C	T	76754583	2	4	46	1	0	0	0	0	0	0	0	1	13835	639	23	1		1	SALL3	18	76754583	Silent	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10	45841336	76754583	1322665	65	3279											
ARHGEF1	9138	broad.mit.edu	37	chr19	42410875	42410875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagttggaggaggaattttgCcgcctgagacccctcctgtc	7	10	13	11	1	0	1	0	1	0	1	2	6	1	4	5	3	1	1	5	3	1	3			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr19:42410875C>T	ENST00000354532.3	+	28	2824	c.2676C>T	c.(2674-2676)tgC>tgT	p.C892C	ARHGEF1_ENST00000599846.1_Silent_p.C948C|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.P820S|ARHGEF1_ENST00000347545.4_Silent_p.C859C|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000337665.4_Silent_p.C907C	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	892					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGGAATTTTGCCGCCTGAGAC	0.687																																					p.C907C													.	ARHGEF1	95		0			c.C2721T												41	37	38					19																	42410875		2203	4300	6503	SO:0001819	synonymous_variant	0	exon28			ATTTTGCCGCCTG	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2676C>T	19.37:g.42410875C>T			155	0.0064516129	1		255	0.02	6	NM_199002	130	0	0	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897077	0.33535	.	.	ENSG00000076928	ENST00000378152	T	0.68765	-0.35	4.09	-1.72	0.08107	.	0.327658	0.23752	N	0.044913	T	0.47248	0.1435	.	.	.	0.58432	D	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.07635	-1.0762	9	0.31617	T	0.26	-0.5746	7.2898	0.26360	0.0:0.4699:0.0:0.5301	.	820	Q6NX52	.	S	820	ENSP00000367394:P820S	ENSP00000367394:P820S	P	+	1	0	ARHGEF1	47102715	0.213000	0.23551	0.350000	0.25708	0.979000	0.70002	-1.362000	0.02595	-0.508000	0.06540	0.485000	0.47835	CCG			0.687	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000463360.1		NM_199002		T	42410875	C	T	42410875	2	4	46	1	0	0	0	0	0	0	0	1	893	747	26	2		2	ARHGEF1	19	42410875	Silent	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10		42410875	16718108	66	3280											
ZNF836	162962	mdanderson.org	37	chr19	52671321	52671321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattttacctgtgtaagaGccatccctgactccttttct	8	16	5	12	0	2	2	1	1	1	1	4	2	4	2	4	0	2	1	4	0	2	5			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr19:52671321G>T	ENST00000322146.8	-	3	526	c.5C>A	c.(4-6)gCt>gAt	p.A2D	ZNF836_ENST00000597252.1_Missense_Mutation_p.A2D|CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597065.1_Missense_Mutation_p.A2D|ZNF836_ENST00000602187.1_5'UTR	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGTGTAAGAGCCATCCCTGA	0.388																																					p.A2D													.	.			0			c.C5A												177	203	195					19																	52671321		2198	4300	6498	SO:0001583	missense	162962	exon3			GTAAGAGCCATCC	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.5C>A	19.37:g.52671321G>T	ENSP00000325038:p.Ala2Asp		46	0	0		55	0.05	3	NM_001102657	14	0	0		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968158	0.34754	.	.	ENSG00000196267	ENST00000322146	T	0.00902	5.56	1.37	1.37	0.22104	Krueppel-associated box (1);	.	.	.	.	T	0.02649	0.0080	L	0.53671	1.685	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.47156	-0.9139	9	0.72032	D	0.01	.	6.1501	0.20306	0.0:0.0:1.0:0.0	.	2	Q6ZNA1	ZN836_HUMAN	D	2	ENSP00000325038:A2D	ENSP00000325038:A2D	A	-	2	0	ZNF836	57363133	0.014000	0.17966	0.062000	0.19696	0.182000	0.23217	1.056000	0.30480	1.060000	0.40578	0.491000	0.48974	GCT			0.388	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462456.1		NM_001102657		T	52671321	G	T	52671321	3	4	46	1	0	0	0	0	1	0	0	0	18210	971	34	2	2815	2	ZNF836	19	52671321	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	10260446	52671321	6457662	67	3281											
VPS16	64601	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr20	2843984	2843984	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatccagatatgcgagtaCttgcgccttcctgaagtaca	10	10	9	12	2	0	2	0	1	0	1	2	3	2	2	4	0	4	2	4	0	4	5			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr20:2843984C>G	ENST00000380445.3	+	15	1488	c.1416C>G	c.(1414-1416)taC>taG	p.Y472*	VPS16_ENST00000380443.3_Nonsense_Mutation_p.Y158*|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Nonsense_Mutation_p.Y328*	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	472					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TATGCGAGTACTTGCGCCTTC	0.572																																					p.Y472X													.	.			0			c.C1416G												104	91	95					20																	2843984		2203	4300	6503	SO:0001587	stop_gained	64601	exon15			CGAGTACTTGCGC	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1416C>G	20.37:g.2843984C>G	ENSP00000369810:p.Tyr472*		67	0	0		98	0.23	23	NM_022575	120	0.08	9	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Nonsense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	C	36	5.875356	0.97055	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3302	8.6407	0.33974	0.0:0.8984:0.0:0.1016	.	.	.	.	X	472;328;210;158	.	ENSP00000369808:Y158X	Y	+	3	2	VPS16	2791984	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.137000	0.50562	2.426000	0.82243	0.561000	0.74099	TAC			0.572	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077658.2		NM_022575		G	2843984	C	G	2843984	4	3	46	1	0	0	0	0	0	1	0	0	17217	576	20	5	1474	5	VPS16	20	2843984	Nonsense_Mutation	SNP	C	TCGA-2G-AAH3-01A-11D-A42Y-10		2843984	60181536	68	3282											
C22orf9	23313	bcgsc.ca	37	chr22	45607914	45607914	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagcatgtcgtcctgccGgggagcccatttctccatga	9	9	11	12	2	1	1	0	1	1	0	4	3	2	2	4	2	3	1	4	2	2	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr22:45607914G>T	ENST00000336156.5	-	2	204	c.139C>A	c.(139-141)Cgg>Agg	p.R47R	KIAA0930_ENST00000391627.2_Silent_p.R13R|KIAA0930_ENST00000443310.3_Silent_p.R29R|KIAA0930_ENST00000492273.1_Silent_p.R52R|KIAA0930_ENST00000496226.1_Silent_p.R56R|KIAA0930_ENST00000251993.7_Silent_p.R52R	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	47										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCGTCCTGCCGGGGAGCCCAT	0.612																																					p.R52R													.	KIAA0930	43		0			c.C154A												61	59	60					22																	45607914		2203	4300	6503	SO:0001819	synonymous_variant	23313	exon2			CCTGCCGGGGAGC	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.139C>A	22.37:g.45607914G>T			60	0.0166666667	1		53	0.08	4	NM_015264	53	0	0	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Silent	SNP	ENST00000336156.5	37	CCDS33665.1																																																																																					0.612	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321975.2		NM_001009880		T	45607914	G	T	45607914	2	4	46	1	0	0	0	0	0	0	0	1	2153	1115	39	1		1	C22orf9	22	45607914	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10		45607914	5696652	69	3283											
PANX2	56666	broad.mit.edu	37	chr22	50617594	50617594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgggaggaggaggacggggGcccccgcctgccgcaggacg	6	1	20	14	5	0	0	0	0	0	0	0	5	0	5	5	7	1	1	5	7	0	0	rs376326556		TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chr22:50617594G>C	ENST00000395842.2	+	3	1922	c.1922G>C	c.(1921-1923)gGc>gCc	p.G641A	PANX2_ENST00000159647.5_Intron	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	641					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)		GAGGACGGGGGCCCCCGCCTG	0.677																																					p.G641A													.	PANX2	69		0			c.G1922C												32	31	31					22																	50617594		2200	4298	6498	SO:0001583	missense	56666	exon3			ACGGGGGCCCCCG		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.1922G>C	22.37:g.50617594G>C	ENSP00000379183:p.Gly641Ala		115	0.052173913	6		87	0.23	20	NM_052839	7	0.29	2	B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	3.427	-0.116921	0.06838	.	.	ENSG00000073150	ENST00000395842;ENST00000401643	T	0.22743	1.94	3.53	-2.42	0.06542	.	0.942046	0.08511	N	0.934949	T	0.12475	0.0303	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31668	-0.9935	9	.	.	.	0.246	16.9717	0.86302	0.0:0.5969:0.4031:0.0	.	641	Q96RD6	PANX2_HUMAN	A	641;318	ENSP00000379183:G641A	.	G	+	2	0	PANX2	48959721	0.936000	0.31750	0.228000	0.23943	0.315000	0.28087	1.072000	0.30678	-0.056000	0.13221	0.313000	0.20887	GGC			0.677	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075010.3		NM_052839		C	50617594	G	C	50617594	3	2	46	1	0	0	0	0	1	0	0	0	11438	1203	42	5	1932	5	PANX2	22	50617594	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	5009680	50617594	686972	70	3284											
PPEF1	5475	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	18845542	18845542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactttaatgagtttttaaaGgctttctatgtagtgcatag	11	17	9	4	0	1	1	0	1	1	0	1	2	1	1	0	1	1	4	0	1	6	9			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chrX:18845542G>T	ENST00000361511.4	+	19	2393	c.1899G>T	c.(1897-1899)aaG>aaT	p.K633N	PPEF1_ENST00000349874.5_Missense_Mutation_p.K571N|PPEF1_ENST00000359763.6_Missense_Mutation_p.K580N|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000544635.1_Missense_Mutation_p.K568N	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	633	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)					AGTTTTTAAAGGCTTTCTATG	0.393																																					p.K633N													.	PPEF1	89		0			c.G1899T												147	132	137					X																	18845542		2203	4300	6503	SO:0001583	missense	5475	exon19			TTTAAAGGCTTTC	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.1899G>T	X.37:g.18845542G>T	ENSP00000354871:p.Lys633Asn		149	0.0067114094	1		251	0.03	8	NM_006240	5	0	0	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188917	0.38707	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.31	0.959	0.19624	EF-hand-like domain (1);	0.000000	0.51477	D	0.000098	T	0.64394	0.2594	M	0.65498	2.005	0.35665	D	0.812885	B;P;P	0.44627	0.047;0.839;0.763	B;B;P	0.44897	0.032;0.347;0.463	T	0.63175	-0.6696	10	0.32370	T	0.25	-18.2483	4.1369	0.10174	0.432:0.0:0.4075:0.1605	.	571;633;605	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	N	633;580;571;568;95	ENSP00000354871:K633N;ENSP00000352806:K580N;ENSP00000341892:K571N;ENSP00000441289:K568N;ENSP00000419273:K95N	ENSP00000341892:K571N	K	+	3	2	PPEF1	18755463	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	1.448000	0.35112	0.111000	0.17947	0.594000	0.82650	AAG			0.393	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055953.3		NM_006240		T	18845542	G	T	18845542	3	4	46	1	0	0	0	0	1	0	0	0	12324	991	35	3	1961	3	PPEF1	23	18845542	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10		18845542	136425018	71	3285											
DDX3X	1654	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	41205590	41205590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccagcatccatggagaccGttctcagagggatagagaag	13	7	12	9	1	1	3	1	0	1	3	3	6	2	4	3	2	2	2	3	2	3	3			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chrX:41205590G>C	ENST00000399959.2	+	13	2279	c.1424G>C	c.(1423-1425)cGt>cCt	p.R475P	DDX3X_ENST00000457138.2_Missense_Mutation_p.R459P|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	475	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CATGGAGACCGTTCTCAGAGG	0.443										HNSCC(61;0.18)																											p.R475P													.	.			0			c.G1424C												113	107	109					X																	41205590		2200	4300	6500	SO:0001583	missense	1654	exon13			GAGACCGTTCTCA	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1424G>C	X.37:g.41205590G>C	ENSP00000382840:p.Arg475Pro		144	0	0		183	0.08	14	NM_001193416	754	0.08	57	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762698	0.89932	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.75477	-0.94;-0.94	5.41	5.41	0.78517	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	M	0.76433	2.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.996	D	0.88091	0.2813	10	0.87932	D	0	-8.5744	18.3066	0.90184	0.0:0.0:1.0:0.0	.	459;487;475	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	P	475;459	ENSP00000382840:R475P;ENSP00000392494:R459P	ENSP00000382840:R475P	R	+	2	0	DDX3X	41090534	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	9.807000	0.99171	2.262000	0.75019	0.600000	0.82982	CGT			0.443	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056253.1		NM_024005		C	41205590	G	C	41205590	3	2	46	1	0	0	0	0	1	0	0	0	4360	1145	40	5	1474	5	DDX3X	23	41205590	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	22360048	41205590	114064970	72	3286											
TSPYL2	64061	mdanderson.org	37	chrX	53111842	53111842	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggaggaaacggaggcGgcacaggtgctggccgatat	10	5	16	10	3	0	0	0	0	0	0	1	4	1	3	2	7	2	2	2	7	2	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chrX:53111842G>T	ENST00000375442.4	+	1	294	c.162G>T	c.(160-162)gcG>gcT	p.A54A		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	54	Pro-rich.				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						AAACGGAGGCGGCACAGGTGC	0.751																																					p.A54A													.	.			0			c.G162T												2	2	2					X																	53111842		1485	3222	4707	SO:0001819	synonymous_variant	64061	exon1			GGAGGCGGCACAG	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.162G>T	X.37:g.53111842G>T			17	0	0		28	0.11	3	NM_022117	7	0	0	O94799|Q96DG7|Q9BZW6	Silent	SNP	ENST00000375442.4	37	CCDS14350.1																																																																																					0.751	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056718.1		NM_022117		T	53111842	G	T	53111842	2	4	46	1	0	0	0	0	0	0	0	1	16684	1103	39	1		1	TSPYL2	23	53111842	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	11906252	53111842	102158718	73	3287											
NLGN3	54413	broad.mit.edu	37	chrX	70387352	70387352	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccgtgacaaccctgagAcccgccgtaaaacactggtg	12	5	10	14	3	0	3	0	2	0	2	0	4	0	3	4	1	2	1	4	1	3	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chrX:70387352A>C	ENST00000358741.3	+	7	1708	c.1405A>C	c.(1405-1407)Acc>Ccc	p.T469P	NLGN3_ENST00000536169.1_Missense_Mutation_p.T429P|NLGN3_ENST00000374051.3_Missense_Mutation_p.T449P|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	469					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CAACCCTGAGACCCGCCGTAA	0.557																																					p.T469P	Esophageal Squamous(103;760 1488 16849 22250 40351)												.	NLGN3	159		0			c.A1405C												57	46	50					X																	70387352		2203	4300	6503	SO:0001583	missense	54413	exon7			CCTGAGACCCGCC	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1405A>C	X.37:g.70387352A>C	ENSP00000351591:p.Thr469Pro		52	0.2692307692	14		94	0.31	29	NM_181303	1	0	0	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	CCDS55441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.34|19.34	3.808317|3.808317	0.70797|0.70797	.|.	.|.	ENSG00000196338|ENSG00000196338	ENST00000542063|ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	.|T;T;T;T	.|0.68181	.|-0.31;-0.31;-0.31;-0.31	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Carboxylesterase, type B (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77226|0.77226	0.4099|0.4099	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.994;0.998;0.993	.|D;D;D	.|0.75020	.|0.978;0.985;0.956	T|T	0.79415|0.79415	-0.1813|-0.1813	5|10	.|0.66056	.|D	.|0.02	.|.	13.7564|13.7564	0.62940|0.62940	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|429;469;449	.|D3DVV1;Q9NZ94;Q9NZ94-2	.|.;NLGN3_HUMAN;.	S|P	331|429;449;429;469	.|ENSP00000445298:T429P;ENSP00000363163:T449P;ENSP00000379196:T429P;ENSP00000351591:T469P	.|ENSP00000351591:T469P	R|T	+|+	3|1	2|0	NLGN3|NLGN3	70304077|70304077	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.139000|9.139000	0.94554|0.94554	1.822000|1.822000	0.53115|0.53115	0.413000|0.413000	0.27773|0.27773	AGA|ACC			0.557	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057121.1		NM_018977		C	70387352	A	C	70387352	3	2	46	1	0	0	0	0	1	0	0	0	10480	275	10	4	1427	4	NLGN3	23	70387352	Missense_Mutation	SNP	A	TCGA-2G-AAH3-01A-11D-A42Y-10	17275510	70387352	84883208	74	3288											
MORC4	79710	broad.mit.edu	37	chrX	106184800	106184800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcacgaagctccaagtgaGggaggacagaagtaaggaga	15	5	14	7	1	1	3	1	1	1	2	3	7	2	5	1	3	1	2	1	3	4	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chrX:106184800G>T	ENST00000355610.4	-	17	2997	c.2723C>A	c.(2722-2724)cCt>cAt	p.P908H	MORC4_ENST00000255495.7_Silent_p.P895P|MORC4_ENST00000535534.1_Silent_p.P643P	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	908						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTCCAAGTGAGGGAGGACAGA	0.522																																					p.P908H													.	MORC4	155		0			c.C2723A												142	103	116					X																	106184800		2203	4300	6503	SO:0001583	missense	79710	exon17			AAGTGAGGGAGGA	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2723C>A	X.37:g.106184800G>T	ENSP00000347821:p.Pro908His		198	0	0		259	0.02	6	NM_024657	102	0	0	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	g	16.60	3.167607	0.57476	.	.	ENSG00000133131	ENST00000355610	T	0.60171	0.21	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000024	T	0.72779	0.3503	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.76072	-0.3093	10	0.87932	D	0	-7.9096	12.9086	0.58166	0.0:0.0:1.0:0.0	.	908	Q8TE76	MORC4_HUMAN	H	908	ENSP00000347821:P908H	ENSP00000347821:P908H	P	-	2	0	MORC4	106071456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.392000	0.66272	2.104000	0.64026	0.431000	0.28591	CCT			0.522	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000057816.3		NM_024657		T	106184800	G	T	106184800	3	4	46	1	0	0	0	0	1	0	0	0	9720	1000	35	3	94	3	MORC4	23	106184800	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	35797448	106184800	49085760	75	3289											
ODZ1	10178	broad.mit.edu;mdanderson.org	37	chrX	123556153	123556153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagtttggatcaattttGcagtcacagtcagtgggggc	9	12	12	8	0	4	0	4	0	0	0	4	1	4	1	0	3	1	2	0	3	1	3			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chrX:123556153G>A	ENST00000371130.3	-	23	4482	c.4419C>T	c.(4417-4419)tgC>tgT	p.C1473C	TENM1_ENST00000422452.2_Silent_p.C1480C|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1473					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)										GATCAATTTTGCAGTCACAGT	0.448																																					p.C1480C													.	.			0			c.C4440T												137	102	114					X																	123556153		2203	4300	6503	SO:0001819	synonymous_variant	10178	exon24			AATTTTGCAGTCA	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.4419C>T	X.37:g.123556153G>A			73	0	0		102	0.1	10	NM_001163278	3	0	0	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																					0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058985.1		NM_014253		A	123556153	G	A	123556153	2	1	46	1	0	0	0	0	0	0	0	1	10851	1311	46	2		2	ODZ1	23	123556153	Silent	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	17371353	123556153	31714407	76	3290											
UBE2NL	389898	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	142967560	142967560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgctcccaatccagatGatccattagcaaatgatgta	15	11	6	9	0	0	3	0	2	0	1	3	3	3	3	3	0	2	3	3	0	6	3			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chrX:142967560G>T	ENST00000370494.1	+	1	388	c.358G>T	c.(358-360)Gat>Tat	p.D120Y		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	120						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CAATCCAGATGATCCATTAGC	0.443																																					p.D120Y													.	UBE2NL	46		0			c.G358T												141	118	126					X																	142967560		2203	4300	6503	SO:0001583	missense	389898	exon1			CCAGATGATCCAT			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.358G>T	X.37:g.142967560G>T	ENSP00000359525:p.Asp120Tyr		153	0.0065359477	1		177	0.45	79	NM_001012989	0		0	E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751887	0.31046	.	.	ENSG00000102069	ENST00000370494	T	0.74947	-0.89	1.16	1.16	0.20824	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.32328	U	0.006258	D	0.90041	0.6890	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89165	0.3533	10	0.87932	D	0	-2.5165	7.9726	0.30136	0.0:0.0:1.0:0.0	.	120	Q5JXB2	UE2NL_HUMAN	Y	120	ENSP00000359525:D120Y	ENSP00000359525:D120Y	D	+	1	0	UBE2NL	142795226	1.000000	0.71417	0.999000	0.59377	0.239000	0.25481	6.239000	0.72356	0.899000	0.36444	0.181000	0.17075	GAT			0.443	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058624.1		NM_001012989		T	142967560	G	T	142967560	3	4	46	1	0	0	0	0	1	0	0	0	16891	1290	45	3	360	3	UBE2NL	23	142967560	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	19411407	142967560	12303000	77	3291											
F8	2157	broad.mit.edu	37	chrX	154157224	154157224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagggacaaaatggtatccTttttcttaaaagctgttttt	11	17	7	6	0	2	0	1	0	1	0	3	1	3	1	1	2	1	3	1	2	5	6			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chrX:154157224T>C	ENST00000360256.4	-	14	5041	c.4841A>G	c.(4840-4842)aAg>aGg	p.K1614R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1614	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)	AATGGTATCCTTTTTCTTAAA	0.408																																					p.K1614R													.	F8	646		0			c.A4841G	GRCh37	CD057235	F8	D								186	182	184					X																	154157224		2203	4300	6503	SO:0001583	missense	2157	exon14			GTATCCTTTTTCT	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.4841A>G	X.37:g.154157224T>C	ENSP00000353393:p.Lys1614Arg		106	0	0		164	0.02	4	NM_000132	0		0	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	t	0.840	-0.742238	0.03088	.	.	ENSG00000185010	ENST00000360256	D	0.99158	-5.5	4.85	-1.2	0.09554	.	0.706837	0.13262	N	0.401248	D	0.96377	0.8818	M	0.67953	2.075	0.09310	N	1	P	0.34462	0.454	B	0.27380	0.079	D	0.91805	0.5455	10	0.22706	T	0.39	-0.7754	4.4148	0.11450	0.3213:0.0:0.3678:0.3109	.	1614	P00451	FA8_HUMAN	R	1614	ENSP00000353393:K1614R	ENSP00000353393:K1614R	K	-	2	0	F8	153810418	0.012000	0.17670	0.000000	0.03702	0.020000	0.10135	0.665000	0.25083	-0.125000	0.11703	0.438000	0.28831	AAG			0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058869.4				C	154157224	T	C	154157224	3	2	46	1	0	0	0	0	1	0	0	0	5357	1609	56	4	2294	4	F8	23	154157224	Missense_Mutation	SNP	T	TCGA-2G-AAH3-01A-11D-A42Y-10	11189664	154157224	1113336	78	3292											
IL9R	3581	broad.mit.edu	37	chrX	155234957	155234957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacagcaggcccagcacagGgatcacattgtcggggtgac	10	5	13	13	1	1	1	1	1	0	0	2	2	1	2	2	4	2	2	2	4	0	1			TCGA-2G-AAH3-01A-11D-A42Y-10	TCGA-2G-AAH3-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	914e1323-9f05-4117-9895-86f2ecd7a395	280dee5e-025a-4514-a742-494dcf4aca01	g.chrX:155234957G>T	ENST00000244174.5	+	6	773	c.594G>T	c.(592-594)agG>agT	p.R198S	IL9R_ENST00000540897.1_Missense_Mutation_p.R223S|IL9R_ENST00000369423.2_Missense_Mutation_p.R233S|IL9R_ENST00000424344.3_Missense_Mutation_p.R177S	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	198	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					CCCAGCACAGGGATCACATTG	0.577																																					p.R233S													.	IL9R	73		0			c.G699T												79	74	76					X																	155234957		2203	4296	6499	SO:0001583	missense	3581	exon7			GCACAGGGATCAC	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.594G>T	X.37:g.155234957G>T	ENSP00000244174:p.Arg198Ser		246	0	0		186	0.03	5	NM_176786	0		0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	8.716	0.913097	0.17907	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	1.29	1.29	0.21616	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.498852	0.18910	N	0.127785	T	0.48660	0.1512	.	.	.	0.09310	N	1	B;B;B	0.28933	0.228;0.228;0.091	B;B;B	0.27796	0.083;0.083;0.007	T	0.37753	-0.9692	9	0.44086	T	0.13	-25.8923	5.5447	0.17057	0.0:0.0:1.0:0.0	.	177;198;233	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	S	198;177;177;233;223	ENSP00000244174:R198S;ENSP00000388918:R177S;ENSP00000358431:R233S;ENSP00000438112:R223S	ENSP00000244174:R198S	R	+	3	2	IL9R	154888151	0.037000	0.19845	0.139000	0.22197	0.227000	0.25037	0.833000	0.27504	0.932000	0.37266	0.287000	0.19450	AGG			0.577	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058981.1		NM_002186		T	155234957	G	T	155234957	3	4	46	1	0	0	0	0	1	0	0	0	7723	1223	43	3	616	3	IL9R	23	155234957	Missense_Mutation	SNP	G	TCGA-2G-AAH3-01A-11D-A42Y-10	1077733	155234957	35603	79	3293											
AHDC1	27245	mdanderson.org	37	chr1	27875938	27875938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctacccactgccactgGgctggccttggctccccggc	3	8	12	18	1	0	0	0	0	0	0	1	0	1	0	5	4	3	4	5	4	1	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr1:27875938G>T	ENST00000247087.5	-	5	3285	c.2689C>A	c.(2689-2691)Cca>Aca	p.P897T	AHDC1_ENST00000374011.2_Missense_Mutation_p.P897T			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	897							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)		ACTGCCACTGGGCTGGCCTTG	0.706																																					p.P897T													.	.			0			c.C2689A												19	24	22					1																	27875938		2196	4283	6479	SO:0001583	missense	27245	exon6			CCACTGGGCTGGC	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.2689C>A	1.37:g.27875938G>T	ENSP00000247087:p.Pro897Thr		57	0	0		41	0.07	3	NM_001029882	48	0	0	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021819	0.35701	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.46451	0.87;0.87	5.77	5.77	0.91146	.	0.101167	0.39274	N	0.001403	T	0.43322	0.1242	N	0.14661	0.345	0.42385	D	0.992503	D	0.58268	0.982	P	0.60236	0.871	T	0.34900	-0.9810	10	0.38643	T	0.18	-7.5982	14.3783	0.66895	0.0:0.1481:0.8519:0.0	.	897	Q5TGY3	AHDC1_HUMAN	T	897	ENSP00000247087:P897T;ENSP00000363123:P897T	ENSP00000247087:P897T	P	-	1	0	AHDC1	27748525	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.047000	0.41269	2.723000	0.93209	0.655000	0.94253	CCA			0.706	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009523.3				T	27875938	G	T	27875938	3	4	47	1	0	0	0	0	1	0	0	0	412	1232	43	3	2126	3	AHDC1	1	27875938	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		27875938	221374683	1	3294											
EPHA10	284656	mdanderson.org	37	chr1	38227156	38227156	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagccactcgccgtcggcGccgcagtgcatgcgtggggg	5	5	16	15	6	0	0	0	0	0	0	2	0	0	0	4	3	3	2	4	3	0	0	rs140939937	byFrequency	TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr1:38227156G>T	ENST00000373048.4	-	3	770	c.771C>A	c.(769-771)ggC>ggA	p.G257G	EPHA10_ENST00000427468.2_Silent_p.G257G|EPHA10_ENST00000319637.6_Silent_p.G257G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	257					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGCCGTCGGCGCCGCAGTGCA	0.701																																					p.G257G													.	.			0			c.C771A												21	25	23					1																	38227156		2174	4233	6407	SO:0001819	synonymous_variant	284656	exon3			GTCGGCGCCGCAG	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.771C>A	1.37:g.38227156G>T			15	0	0		18	0.11	2	NM_173641	0		0	A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	CCDS41305.1																																																																																					0.701	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000012497.2		NM_173641		T	38227156	G	T	38227156	2	4	47	1	0	0	0	0	0	0	0	1	5173	1074	38	1		1	EPHA10	1	38227156	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	10351218	38227156	211023465	2	3295											
EPAS1	2034	broad.mit.edu	37	chr2	46605215	46605215	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaccagcagcagcagcAgctgctccacggtgagcagc	9	4	13	15	1	0	1	0	1	0	0	1	1	1	1	3	1	9	7	3	1	0	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr2:46605215A>T	ENST00000263734.3	+	10	1942	c.1432A>T	c.(1432-1434)Agc>Tgc	p.S478C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	478	Poly-Ser.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|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)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAGCAGCAGCAGCTGCTCCAC	0.652																																					p.S478C													.	EPAS1	83		0			c.A1432T												10	10	10					2																	46605215		2180	4275	6455	SO:0001583	missense	2034	exon10			AGCAGCAGCTGCT	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1432A>T	2.37:g.46605215A>T	ENSP00000263734:p.Ser478Cys		54	0	0		89	0.04	4	NM_001430	29	0	0	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.689835	0.68271	.	.	ENSG00000116016	ENST00000263734	T	0.56444	0.46	5.58	3.23	0.37069	.	0.981388	0.08371	N	0.956092	T	0.67287	0.2877	M	0.76574	2.34	0.37050	D	0.897573	D	0.62365	0.991	P	0.59288	0.855	T	0.59553	-0.7433	10	0.37606	T	0.19	.	9.6414	0.39842	0.8591:0.0:0.1409:0.0	.	478	Q99814	EPAS1_HUMAN	C	478	ENSP00000263734:S478C	ENSP00000263734:S478C	S	+	1	0	EPAS1	46458719	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.474000	0.60203	0.427000	0.26145	0.533000	0.62120	AGC			0.652	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250752.2		NM_001430		T	46605215	A	T	46605215	3	4	47	1	0	0	0	0	1	0	0	0	5157	188	7	5	1470	5	EPAS1	2	46605215	Missense_Mutation	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10		46605215	196594158	3	3296											
MFF	56947	broad.mit.edu	37	chr2	228211978	228211978	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaggctcgggtctgtccTccccatatgttacctgaaga	9	10	9	13	1	1	2	0	1	1	1	4	2	3	2	4	2	2	2	4	2	4	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr2:228211978T>C	ENST00000353339.3	+	8	1071	c.630T>C	c.(628-630)ccT>ccC	p.P210P	MFF_ENST00000524634.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000304593.9_Silent_p.P159P|MFF_ENST00000337110.7_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000392059.1_Silent_p.P210P|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	210					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GGGTCTGTCCTCCCCATATGT	0.453																																					p.P210P													.	MFF	48		0			c.T630C												182	167	172					2																	228211978		2203	4300	6503	SO:0001819	synonymous_variant	56947	exon8			CTGTCCTCCCCAT	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.630T>C	2.37:g.228211978T>C			171	0	0		172	0.02	3	NM_020194	63	0	0	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	37	CCDS2465.1																																																																																					0.453	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256887.2		NM_020194		C	228211978	T	C	228211978	2	2	47	1	0	0	0	0	0	0	0	1	9535	1538	54	4		4	MFF	2	228211978	Silent	SNP	T	TCGA-2G-AAH4-01A-12D-A42Y-10	181606763	228211978	14987395	4	3297											
SLC22A13	9390	bcgsc.ca;mdanderson.org	37	chr3	38317788	38317788	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgccagatctgcccgtGgtggtcaccatgctggctgt	4	11	12	14	1	3	1	1	0	2	1	3	1	3	1	4	3	3	2	4	3	0	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr3:38317788G>T	ENST00000311856.4	+	8	1297	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	416					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		ATCTGCCCGTGGTGGTCACCA	0.622																																					p.V416V													SLC22A13,right_upper_lobe,carcinoma,+1,2	SLC22A13	42	2	0			c.G1248T												104	91	95					3																	38317788		2203	4300	6503	SO:0001819	synonymous_variant	9390	exon8			GCCCGTGGTGGTC	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1248G>T	3.37:g.38317788G>T			86	0	0		86	0.06	5	NM_004256	0		0	B2RCV9|Q8IYG1	Silent	SNP	ENST00000311856.4	37	CCDS2676.1																																																																																					0.622	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253746.2		NM_004256		T	38317788	G	T	38317788	2	4	47	1	0	0	0	0	0	0	0	1	14467	1335	47	3		3	SLC22A13	3	38317788	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		38317788	159704642	5	3298											
EPHA6	285220	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	96706454	96706454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtatacaaagatcgacaCaattgctgctgatgagagtt	14	10	9	8	1	0	3	0	2	0	2	1	5	0	3	1	0	3	4	1	0	4	4			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr3:96706454C>T	ENST00000389672.5	+	3	769	c.731C>T	c.(730-732)aCa>aTa	p.T244I	EPHA6_ENST00000470610.2_Missense_Mutation_p.T244I|EPHA6_ENST00000542517.1_Missense_Mutation_p.T150I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	150						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						AAGATCGACACAATTGCTGCT	0.413																																					p.T244I													.	.			0			c.C731T												183	186	185					3																	96706454		1880	4139	6019	SO:0001583	missense	285220	exon3			TCGACACAATTGC	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.731C>T	3.37:g.96706454C>T	ENSP00000374323:p.Thr244Ile		186	0	0		172	0.24	41	NM_001080448	2	0.5	1	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475769	0.84640	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.05855	3.38;3.38;3.38	5.74	5.74	0.90152	.	0.000000	0.64402	U	0.000002	T	0.38612	0.1047	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52056	-0.8626	10	0.87932	D	0	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	244;244	B3KS12;E7EU71	.;.	I	244;244;150	ENSP00000420598:T244I;ENSP00000374323:T244I;ENSP00000439758:T150I	ENSP00000374323:T244I	T	+	2	0	EPHA6	98189144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.703000	0.92315	0.655000	0.94253	ACA			0.413	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353845.3		NM_001080448		T	96706454	C	T	96706454	3	4	47	1	0	0	0	0	1	0	0	0	5178	478	17	3	741	3	EPHA6	3	96706454	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	58388666	96706454	101315976	6	3299											
HCLS1	3059	broad.mit.edu	37	chr3	121354648	121354648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttcattgaagccgacagCgctctgcaggcaggagaaca	12	7	11	11	2	2	2	1	1	1	1	2	4	2	2	1	2	4	3	1	2	2	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr3:121354648C>T	ENST00000314583.3	-	9	716	c.625G>A	c.(625-627)Gct>Act	p.A209T	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.A172T	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	209					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)		AAGCCGACAGCGCTCTGCAGG	0.557																																					p.A209T													.	HCLS1	78		0			c.G625A												78	80	80					3																	121354648		2203	4300	6503	SO:0001583	missense	3059	exon9			CGACAGCGCTCTG		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.625G>A	3.37:g.121354648C>T	ENSP00000320176:p.Ala209Thr		64	0	0		98	0.03	3	NM_005335	124	0	0	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573715	0.86542	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.40756	1.02;1.36	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.77432	-0.2590	10	0.87932	D	0	-13.9362	15.6436	0.77029	0.0:1.0:0.0:0.0	.	172;209	E7EVW7;P14317	.;HCLS1_HUMAN	T	209;172	ENSP00000320176:A209T;ENSP00000387645:A172T	ENSP00000320176:A209T	A	-	1	0	HCLS1	122837338	1.000000	0.71417	0.944000	0.38274	0.506000	0.33950	6.129000	0.71657	2.624000	0.88883	0.655000	0.94253	GCT			0.557	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355144.1		NM_005335		T	121354648	C	T	121354648	3	4	47	1	0	0	0	0	1	0	0	0	7010	768	27	1	859	1	HCLS1	3	121354648	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	24648194	121354648	76667782	7	3300											
UCHL1	7345	mdanderson.org	37	chr4	41259027	41259027	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatggagatcaaccccgagGtgagcgccaggtgcaccgct	9	5	14	13	4	1	2	1	1	0	1	1	5	1	2	4	3	3	2	4	3	1	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr4:41259027G>T	ENST00000284440.4	+	1	177		c.e1+1		UCHL1-AS1_ENST00000510073.1_RNA|UCHL1-AS1_ENST00000507190.1_RNA|UCHL1_ENST00000512788.1_Splice_Site|UCHL1_ENST00000504818.1_Splice_Site|UCHL1_ENST00000508768.1_Splice_Site|UCHL1_ENST00000503431.1_Splice_Site	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)						adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						CAACCCCGAGGTGAGCGCCAG	0.617																																					.													.	.			0			c.33+1G>T												82	92	88					4																	41259027		2203	4300	6503	SO:0001630	splice_region_variant	7345	exon1			CCCGAGGTGAGCG	BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"Parkinson disease"	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.33+1G>T	4.37:g.41259027G>T			127	0.0157480315	2		96	0.04	4	NM_004181	2	0	0	Q4W5K6|Q71UM0	Splice_Site	SNP	ENST00000284440.4	37	CCDS3462.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630964	0.67015	.	.	ENSG00000154277	ENST00000514924;ENST00000503431;ENST00000284440;ENST00000508768;ENST00000512788	.	.	.	4.78	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2411	0.48970	0.0927:0.0:0.9073:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UCHL1	40953784	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.787000	0.69013	2.486000	0.83907	0.460000	0.39030	.			0.617	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216827.1		NM_004181	Intron	T	41259027	G	T	41259027	5	4	47	1	0	0	0	0	0	0	1	0	16944	1275	44	3	36	3	UCHL1	4	41259027	Splice_Site	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		41259027	149895249	8	3301											
LARP1B	55132	mdanderson.org	37	chr4	129019452	129019452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggttttcagcgtgttcaGgctctcactacaaaccttaa	9	13	8	11	1	3	0	3	0	1	0	4	0	3	0	1	2	3	4	1	2	3	5			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr4:129019452G>T	ENST00000326639.6	+	8	991	c.780G>T	c.(778-780)caG>caT	p.Q260H	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.Q260H|LARP1B_ENST00000394288.3_Missense_Mutation_p.Q260H|LARP1B_ENST00000427266.1_Missense_Mutation_p.Q260H|LARP1B_ENST00000512292.1_Missense_Mutation_p.Q260H|LARP1B_ENST00000432347.2_Missense_Mutation_p.Q260H|LARP1B_ENST00000264584.5_Missense_Mutation_p.Q213H	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	260	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AGCGTGTTCAGGCTCTCACTA	0.383																																					p.Q260H													LARP1B_ENST00000427266,NS,carcinoma,+2,2	LARP1B_ENST00000427266	2	2	0			c.G780T												92	79	83					4																	129019452		2203	4300	6503	SO:0001583	missense	55132	exon8			TGTTCAGGCTCTC		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.780G>T	4.37:g.129019452G>T	ENSP00000321997:p.Gln260His		76	0	0		92	0.04	4	NM_178043	29	0	0	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.399233|4.399233	0.83120|0.83120	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000507377|ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	.|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	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69691|0.69691	0.3139|0.3139	M|M	0.90650|0.90650	3.135|3.135	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.971;0.984	.|D;D;P;D	.|0.91635	.|0.989;0.999;0.867;0.913	T|T	0.75578|0.75578	-0.3269|-0.3269	5|10	.|0.87932	.|D	.|0	.|.	13.3657|13.3657	0.60682|0.60682	0.0772:0.0:0.9228:0.0|0.0772:0.0:0.9228:0.0	.|.	.|260;260;260;260	.|Q659C4;G3XAJ5;Q659C4-3;G3V0E9	.|LAR1B_HUMAN;.;.;.	C|H	229|260;260;213;260;260;213;260;260	.|ENSP00000321997:Q260H;ENSP00000422850:Q260H;ENSP00000427281:Q213H;ENSP00000377829:Q260H;ENSP00000390395:Q260H;ENSP00000264584:Q213H;ENSP00000396521:Q260H;ENSP00000403586:Q260H	.|ENSP00000264584:Q213H	G|Q	+|+	1|3	0|2	LARP1B|LARP1B	129238902|129238902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.039000|2.039000	0.41193|0.41193	2.732000|2.732000	0.93576|0.93576	0.650000|0.650000	0.86243|0.86243	GGC|CAG			0.383	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257173.2		NM_018078		T	129019452	G	T	129019452	3	4	47	1	0	0	0	0	1	0	0	0	8644	991	35	3	802	3	LARP1B	4	129019452	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	87760425	129019452	62134824	9	3302											
ZFP42	132625	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	188924033	188924033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggaagagcccccagtggGgctaagcccaggcaaggcaa	11	3	16	11	0	0	1	0	0	0	1	0	2	0	2	3	6	2	3	3	6	4	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr4:188924033G>A	ENST00000326866.4	+	4	480	c.72G>A	c.(70-72)ggG>ggA	p.G24G	ZFP42_ENST00000509524.1_Silent_p.G24G	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	24					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)		CCCCCAGTGGGGCTAAGCCCA	0.557																																					p.G24G													.	.			0			c.G72A												74	73	73					4																	188924033		2203	4300	6503	SO:0001819	synonymous_variant	132625	exon4			CAGTGGGGCTAAG	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.72G>A	4.37:g.188924033G>A			211	0	0		169	0.46	77	NM_174900	8	0.25	2	D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	CCDS3849.1																																																																																					0.557	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359794.1		NM_174900		A	188924033	G	A	188924033	2	1	47	1	0	0	0	0	0	0	0	1	17673	1219	43	3		3	ZFP42	4	188924033	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	59904581	188924033	2230243	10	3303											
FER	2241	broad.mit.edu	37	chr5	108168539	108168539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacacatgcagaggacttGaactctggacctttacacag	14	8	9	10	0	1	3	0	1	1	2	1	5	1	5	1	2	3	1	1	2	3	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr5:108168539G>T	ENST00000281092.4	+	4	660	c.276G>T	c.(274-276)ttG>ttT	p.L92F	FER_ENST00000502752.1_3'UTR|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000438717.2_Intron|FER_ENST00000536402.1_Missense_Mutation_p.L92F	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	92	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CAGAGGACTTGAACTCTGGAC	0.378																																					p.L92F	Colon(146;1051 1799 9836 27344 47401)												.	FER	100		0			c.G276T												143	130	135					5																	108168539		2202	4300	6502	SO:0001583	missense	2241	exon4			GGACTTGAACTCT	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.276G>T	5.37:g.108168539G>T	ENSP00000281092:p.Leu92Phe		290	0.0034482759	1		241	0.03	7	NM_005246	3	0	0	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059872	0.76074	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.61274	0.12;0.12	6.0	-6.77	0.01727	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67059	-0.5766	10	0.72032	D	0.01	-7.6808	4.7459	0.13036	0.1366:0.2567:0.4736:0.1331	.	92;92	Q6PEJ9;P16591	.;FER_HUMAN	F	92	ENSP00000281092:L92F;ENSP00000442627:L92F	ENSP00000281092:L92F	L	+	3	2	FER	108196438	0.992000	0.36948	0.930000	0.37139	0.984000	0.73092	0.254000	0.18314	-0.849000	0.04158	-0.302000	0.09304	TTG			0.378	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250664.1		NM_005246		T	108168539	G	T	108168539	3	4	47	1	0	0	0	0	1	0	0	0	5826	1281	45	3	282	3	FER	5	108168539	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		108168539	72746721	11	3304											
PCDHB8	56128	hgsc.bcm.edu	37	chr5	140559196	140559196	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgggtgggcgc	5	7	17	12	5	0	0	0	0	0	0	2	3	1	0	2	4	2	3	2	4	1	3	rs146788088		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr5:140559196G>T	ENST00000239444.2	+	1	1826	c.1581G>T	c.(1579-1581)gcG>gcT	p.A527A	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	527	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.682																																					p.A527A													PCDHB8,NS,carcinoma,+1,1	PCDHB8	1	1	0			c.G1581T												89	147	127					5																	140559196		2203	4300	6503	SO:0001819	synonymous_variant	56128	exon1			GCAGGCGTTCGAG	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1581G>T	5.37:g.140559196G>T			85	0.0235294118	2		78	0.05	4	NM_019120	0		0	B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																					0.682	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251816.2		NM_019120		T	140559196	G	T	140559196	2	4	47	1	0	0	0	0	0	0	0	1	11565	1132	40	1		1	PCDHB8	5	140559196	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	32390657	140559196	40356064	12	3305											
TNIP1	10318	mdanderson.org	37	chr5	150439917	150439917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctctctggtgaattctGctcctcaggagtgaccactt	6	13	10	12	0	3	2	1	2	2	0	5	3	4	3	2	2	2	3	2	2	1	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr5:150439917G>T	ENST00000389378.2	-	5	985	c.397C>A	c.(397-399)Cag>Aag	p.Q133K	TNIP1_ENST00000523338.1_Missense_Mutation_p.Q133K|TNIP1_ENST00000521591.1_Missense_Mutation_p.Q133K|TNIP1_ENST00000523200.1_Missense_Mutation_p.Q133K|TNIP1_ENST00000522226.1_Missense_Mutation_p.Q133K|TNIP1_ENST00000315050.7_Missense_Mutation_p.Q133K|TNIP1_ENST00000520931.1_Missense_Mutation_p.Q80K|TNIP1_ENST00000524280.1_Missense_Mutation_p.Q133K|TNIP1_ENST00000518977.1_Missense_Mutation_p.Q133K	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	133	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGAATTCTGCTCCTCAGGA	0.577																																					p.Q133K													.	.			0			c.C397A												90	85	87					5																	150439917		2203	4300	6503	SO:0001583	missense	10318	exon5			AATTCTGCTCCTC	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.397C>A	5.37:g.150439917G>T	ENSP00000374029:p.Gln133Lys		42	0	0		47	0.06	3	NM_001252385	169	0	0	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	3.878	-0.026446	0.07589	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100;ENST00000520695;ENST00000521001	T;T;T;T;T;T;T;T;T;T;T;T	0.44083	2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.88;2.65;1.04;0.93	5.24	4.31	0.51392	.	0.330527	0.31963	N	0.006791	T	0.24661	0.0598	N	0.20685	0.6	0.34431	D	0.69854	B;B;B;B;B;B;B	0.12630	0.002;0.003;0.004;0.003;0.006;0.002;0.001	B;B;B;B;B;B;B	0.10450	0.005;0.002;0.005;0.002;0.002;0.005;0.002	T	0.17684	-1.0361	10	0.08381	T	0.77	-6.907	12.0207	0.53342	0.0:0.0:0.8276:0.1724	.	133;87;87;133;133;133;133	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	K	80;133;133;133;90;90;95;133;133;133;133;133;90;80;133;133	ENSP00000429891:Q80K;ENSP00000374029:Q133K;ENSP00000317891:Q133K;ENSP00000428243:Q133K;ENSP00000428187:Q133K;ENSP00000430760:Q133K;ENSP00000430971:Q133K;ENSP00000429912:Q133K;ENSP00000431105:Q133K;ENSP00000428487:Q80K;ENSP00000430279:Q133K;ENSP00000428404:Q133K	ENSP00000317891:Q133K	Q	-	1	0	TNIP1	150420110	0.502000	0.26107	0.997000	0.53966	0.271000	0.26615	1.542000	0.36137	2.595000	0.87683	0.655000	0.94253	CAG			0.577	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374914.1		NM_006058		T	150439917	G	T	150439917	3	4	47	1	0	0	0	0	1	0	0	0	16337	1328	46	2	1569	2	TNIP1	5	150439917	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	9880721	150439917	30475343	13	3306											
MTCH1	23787	mdanderson.org	37	chr6	36953795	36953795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcaggccgagggtggCgaggatgtgcgcggtgcgcg	5	4	22	10	7	0	0	0	0	0	0	0	4	0	1	2	5	3	1	2	5	0	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr6:36953795C>A	ENST00000373627.5	-	1	279	c.155G>T	c.(154-156)cGc>cTc	p.R52L	MTCH1_ENST00000538808.1_5'UTR|MTCH1_ENST00000373616.5_Missense_Mutation_p.R52L	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	52					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCGAGGGTGGCGAGGATGTGC	0.751																																					p.R52L													.	.			0			c.G155T												3	3	3					6																	36953795		1775	3497	5272	SO:0001583	missense	23787	exon1			GGGTGGCGAGGAT	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.155G>T	6.37:g.36953795C>A	ENSP00000362730:p.Arg52Leu		21	0	0		34	0.09	3	NM_014341	211	0	0	A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37		.	.	.	.	.	.	.	.	.	.	C	11.55	1.673346	0.29693	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000460219	T;T;T	0.73047	1.59;1.6;-0.71	3.41	1.6	0.23607	.	0.612692	0.12686	U	0.447570	T	0.26122	0.0637	N	0.08118	0	0.80722	D	1	P;B;B	0.38827	0.649;0.054;0.166	B;B;B	0.29598	0.104;0.01;0.022	T	0.08229	-1.0732	10	0.59425	D	0.04	-0.9899	7.1666	0.25693	0.0:0.7733:0.0:0.2267	.	34;52;52	Q8IW90;Q9NZJ7;Q9NZJ7-2	.;MTCH1_HUMAN;.	L	52;52;36	ENSP00000362718:R52L;ENSP00000362730:R52L;ENSP00000419739:R36L	ENSP00000362718:R52L	R	-	2	0	MTCH1	37061773	1.000000	0.71417	0.831000	0.32960	0.010000	0.07245	1.690000	0.37711	0.441000	0.26529	-0.237000	0.12165	CGC			0.751	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000040396.1		NM_014341		A	36953795	C	A	36953795	3	1	47	1	0	0	0	0	1	0	0	0	9929	768	27	1	1011	1	MTCH1	6	36953795	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10		36953795	134161272	14	3307											
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	56422278	56422278	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttccagtttttgttgtcTatcaattgttaattgattga	8	22	6	5	0	3	2	1	2	2	0	4	2	4	2	1	0	0	3	1	0	3	10			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr6:56422278T>C	ENST00000361203.3	-	55	13853	c.13846A>G	c.(13846-13848)Aga>Gga	p.R4616G	DST_ENST00000446842.2_Missense_Mutation_p.R4292G|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.R2204G|DST_ENST00000370788.2_Missense_Mutation_p.R2530G|DST_ENST00000370754.5_Missense_Mutation_p.R4796G|DST_ENST00000421834.2_Missense_Mutation_p.R2530G|DST_ENST00000370769.4_Missense_Mutation_p.R4618G			Q03001	DYST_HUMAN	dystonin	4616					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)			TTTTGTTGTCTATCAATTGTT	0.343																																					p.R2204G													.	.			0			c.A6610G												138	123	128					6																	56422278		1806	4069	5875	SO:0001583	missense	667	exon40			GTTGTCTATCAAT	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.13846A>G	6.37:g.56422278T>C	ENSP00000354508:p.Arg4616Gly		154	0	0		142	0.3	43	NM_015548	1	0	0	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		.	.	.	.	.	.	.	.	.	.	T	19.79	3.892735	0.72524	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000012	T	0.71829	0.3386	M	0.76574	2.34	0.28543	N	0.911991	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.994;0.999;0.999;0.998;0.994	T	0.75906	-0.3152	9	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	2530;4618;4796;4616;2204	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	2204;4796;4618;2530;4292;2530;4616	ENSP00000244364:R2204G;ENSP00000359790:R4796G;ENSP00000359805:R4618G;ENSP00000400883:R2530G;ENSP00000393645:R4292G;ENSP00000359824:R2530G;ENSP00000354508:R4616G	ENSP00000244364:R2204G	R	-	1	2	DST	56530237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.062000	0.71155	2.371000	0.80710	0.533000	0.62120	AGA			0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000041021.3		NM_001723		C	56422278	T	C	56422278	3	2	47	1	0	0	0	0	1	0	0	0	4788	1530	53	4	9085	4	DST	6	56422278	Missense_Mutation	SNP	T	TCGA-2G-AAH4-01A-12D-A42Y-10	19468483	56422278	114692789	15	3308											
MAP3K7	6885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	91254350	91254350	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtttaggcttggaataGgctgcaaaaacacatatata	14	10	8	9	1	0	0	0	0	0	0	0	1	0	1	2	3	2	4	2	3	8	7			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr6:91254350G>T	ENST00000369329.3	-	12	1373	c.1212C>A	c.(1210-1212)gcC>gcA	p.A404A	MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369325.3_Splice_Site_p.A404A	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	404					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTTGGAATAGGCTGCAAAAA	0.383																																					p.A404A													MAP3K7_ENST00000369329,NS,carcinoma,-1,1	MAP3K7_ENST00000369329	-1	1	0			c.C1212A												105	102	103					6																	91254350		2203	4300	6503	SO:0001630	splice_region_variant	6885	exon12			GGAATAGGCTGCA	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1211-1C>A	6.37:g.91254350G>T			154	0	0		188	0.32	60	NM_145331	19	0.32	6	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	ENST00000369329.3	37	CCDS5028.1																																																																																					0.383	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041530.1		NM_145331	Silent	T	91254350	G	T	91254350	5	4	47	1	0	0	0	0	0	0	1	0	9271	1014	35	3	632	3	MAP3K7	6	91254350	Splice_Site	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	34832072	91254350	79860717	16	3309											
UST	10090	broad.mit.edu	37	chr6	149262435	149262435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactacctttcccaagccaGgtggtgtacaacagggtagg	10	9	12	10	0	0	0	0	0	0	0	1	0	1	0	3	4	5	3	3	4	6	5			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr6:149262435G>T	ENST00000367463.4	+	3	415	c.312G>T	c.(310-312)caG>caT	p.Q104H		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	104					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TCCCAAGCCAGGTGGTGTACA	0.438																																					p.Q104H													.	UST	42		0			c.G312T												157	150	152					6																	149262435		2203	4300	6503	SO:0001583	missense	10090	exon3			AAGCCAGGTGGTG	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"Sulfotransferases, membrane-bound"	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.312G>T	6.37:g.149262435G>T	ENSP00000356433:p.Gln104His		195	0	0		209	0.02	4	NM_005715	4	0	0	B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196292	0.58126	.	.	ENSG00000111962	ENST00000367463	T	0.40476	1.03	5.95	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	L	0.59436	1.845	0.52501	D	0.999955	D	0.61697	0.99	D	0.65323	0.934	T	0.29027	-1.0025	10	0.15066	T	0.55	-26.5993	6.7097	0.23270	0.2729:0.0:0.7271:0.0	.	104	Q9Y2C2	UST_HUMAN	H	104	ENSP00000356433:Q104H	ENSP00000356433:Q104H	Q	+	3	2	UST	149304128	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.354000	0.52254	2.817000	0.96982	0.563000	0.77884	CAG			0.438	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043363.1		NM_005715		T	149262435	G	T	149262435	3	4	47	1	0	0	0	0	1	0	0	0	17117	991	35	3	322	3	UST	6	149262435	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	58008085	149262435	21852632	17	3310											
SDK1	221935	mdanderson.org	37	chr7	4198179	4198179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggtgaccacgctgcaGgatggtgagcaacccggggc	8	4	18	11	3	0	2	0	2	0	0	0	4	0	3	2	6	3	3	2	6	1	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr7:4198179G>T	ENST00000404826.2	+	31	4864	c.4725G>T	c.(4723-4725)caG>caT	p.Q1575H	SDK1_ENST00000389531.3_Missense_Mutation_p.Q1575H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1575	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		CCACGCTGCAGGATGGTGAGC	0.617																																					p.Q1575H													.	.			0			c.G4725T												77	70	72					7																	4198179		2203	4300	6503	SO:0001583	missense	221935	exon31			GCTGCAGGATGGT	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.4725G>T	7.37:g.4198179G>T	ENSP00000385899:p.Gln1575His		38	0	0		52	0.06	3	NM_152744	26	0	0	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289218	0.59976	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.55052	0.54;0.54	4.81	1.42	0.22433	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.69975	0.3171	M	0.82193	2.58	0.44908	D	0.997922	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.79784	0.993;0.954;0.962	T	0.70802	-0.4773	10	0.54805	T	0.06	.	10.4462	0.44495	0.2637:0.0:0.7363:0.0	.	1575;62;1575	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	H	1575	ENSP00000385899:Q1575H;ENSP00000374182:Q1575H	ENSP00000374182:Q1575H	Q	+	3	2	SDK1	4164705	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.275000	0.33144	0.428000	0.26173	0.563000	0.77884	CAG			0.617	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323702.1		NM_152744		T	4198179	G	T	4198179	3	4	47	1	0	0	0	0	1	0	0	0	13991	991	35	3	4847	3	SDK1	7	4198179	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		4198179	154940484	18	3311											
DAGLB	221955	broad.mit.edu	37	chr7	6485734	6485734	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgtcagaatgccaatccAcctggcaaaaaaaaaaaagg	20	4	7	10	1	1	1	1	0	0	1	2	1	2	1	3	2	2	1	3	2	9	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr7:6485734A>C	ENST00000297056.6	-	2	266	c.97T>G	c.(97-99)Tgg>Ggg	p.W33G	DAGLB_ENST00000421761.2_5'UTR|DAGLB_ENST00000436575.1_5'UTR|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000425398.2_Splice_Site_p.W33G|DAGLB_ENST00000428902.2_5'UTR|KDELR2_ENST00000463747.1_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	33					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		ATGCCAATCCACCTGGCAAAA	0.473																																					p.W33G													.	DAGLB	74		0			c.T97G												52	45	47					7																	6485734		2203	4300	6503	SO:0001630	splice_region_variant	221955	exon2			CAATCCACCTGGC	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.96-1T>G	7.37:g.6485734A>C			71	0.2957746479	21		112	0.31	35	NM_139179	20	0	0	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Splice_Site	SNP	ENST00000297056.6	37	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024227	0.35701	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000471132;ENST00000432248	T;T	0.43294	0.99;0.95	4.61	2.06	0.26882	.	0.242001	0.37304	N	0.002160	T	0.37320	0.0999	L	0.43152	1.355	0.80722	D	1	P;D	0.59357	0.839;0.985	B;P	0.49799	0.425;0.622	T	0.07558	-1.0766	10	0.24483	T	0.36	-2.0968	7.5229	0.27639	0.711:0.1478:0.0:0.1412	.	33;33	B4DQU0;Q8NCG7	.;DGLB_HUMAN	G	33	ENSP00000297056:W33G;ENSP00000391171:W33G	ENSP00000297056:W33G	W	-	1	0	DAGLB	6452259	1.000000	0.71417	0.982000	0.44146	0.206000	0.24218	5.999000	0.70665	0.202000	0.20498	-0.636000	0.03981	TGG			0.473	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246840.2		NM_139179	Missense_Mutation	C	6485734	A	C	6485734	5	2	47	1	0	0	0	0	0	0	1	0	4229	173	6	4	1977	4	DAGLB	7	6485734	Splice_Site	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10	2287555	6485734	152652929	19	3312											
MYO1G	64005	broad.mit.edu	37	chr7	45016249	45016249	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgtcttccctgccccActctcccctgccggaaagac	5	10	7	19	1	3	1	0	0	3	1	5	2	4	2	6	1	2	1	6	1	1	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr7:45016249A>C	ENST00000258787.7	-	3	448	c.312T>G	c.(310-312)agT>agG	p.S104R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	104	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCCTGCCCCACTCTCCCCTG	0.577																																					p.S104R													.	MYO1G	86		0			c.T312G												137	107	117					7																	45016249		2203	4300	6503	SO:0001583	missense	64005	exon3			TGCCCCACTCTCC	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.312T>G	7.37:g.45016249A>C	ENSP00000258787:p.Ser104Arg		154	0.038961039	6		175	0.05	8	NM_033054	1	0	0	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808044	0.70797	.	.	ENSG00000136286	ENST00000258787	D	0.96232	-3.95	4.2	-4.17	0.03857	Myosin head, motor domain (3);	0.000000	0.43747	D	0.000534	D	0.98188	0.9401	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97593	1.0118	10	0.87932	D	0	.	14.8221	0.70082	0.2974:0.0:0.7026:0.0	.	104;104	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	R	104	ENSP00000258787:S104R	ENSP00000258787:S104R	S	-	3	2	MYO1G	44982774	0.636000	0.27207	0.960000	0.40013	0.963000	0.63663	-0.009000	0.12765	-0.968000	0.03578	0.533000	0.62120	AGT			0.577	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341832.2				C	45016249	A	C	45016249	3	2	47	1	0	0	0	0	1	0	0	0	10090	156	6	4	2824	4	MYO1G	7	45016249	Missense_Mutation	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10	38530515	45016249	114122414	20	3313											
GIGYF1	64599	mdanderson.org	37	chr7	100280727	100280727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctgcaactccaggaGcgtcttcatggacagcccct	8	8	9	16	1	2	0	1	0	1	0	4	2	4	2	4	2	5	2	4	2	1	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr7:100280727G>T	ENST00000275732.5	-	19	3529	c.2320C>A	c.(2320-2322)Ctc>Atc	p.L774I	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	774					insulin-like growth factor receptor signaling pathway (GO:0048009)					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)					AACTCCAGGAGCGTCTTCATG	0.706																																					p.L774I													.	.			0			c.C2320A												6	8	7					7																	100280727		2098	4176	6274	SO:0001583	missense	64599	exon19			CCAGGAGCGTCTT	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.2320C>A	7.37:g.100280727G>T	ENSP00000275732:p.Leu774Ile		22	0	0		35	0.09	3	NM_022574	100	0	0	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	13.25	2.182281	0.38511	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.86865	-2.18	4.34	3.46	0.39613	.	0.000000	0.56097	D	0.000021	D	0.86451	0.5936	L	0.29908	0.895	0.43971	D	0.996655	P	0.52842	0.956	P	0.62184	0.899	D	0.85303	0.1074	10	0.56958	D	0.05	-10.7747	7.8899	0.29672	0.1121:0.0:0.8879:0.0	.	774	O75420	PERQ1_HUMAN	I	493;774	ENSP00000275732:L774I	ENSP00000275732:L774I	L	-	1	0	GIGYF1	100118663	1.000000	0.71417	0.975000	0.42487	0.545000	0.35147	2.955000	0.49121	1.059000	0.40554	0.313000	0.20887	CTC			0.706	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347205.2		NM_022574		T	100280727	G	T	100280727	3	4	47	1	0	0	0	0	1	0	0	0	6391	971	34	2	811	2	GIGYF1	7	100280727	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	55264478	100280727	58857936	21	3314											
LHFPL3	375612	mdanderson.org	37	chr7	103969251	103969251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagccgccgccgctgcCgccgccgccgccgccgcgat	2	2	14	23	11	0	0	0	0	0	0	0	2	0	1	10	1	2	1	10	1	0	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr7:103969251C>T	ENST00000535008.1	+	1	148	c.24C>T	c.(22-24)gcC>gcT	p.A8A	LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A8A			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	8						integral component of membrane (GO:0016021)		p.A8A(1)		kidney(1)|large_intestine(2)|lung(6)	9						ccgccgctgccgccgccgccg	0.721																																					p.A8A													LHFPL3,NS,carcinoma,0,1	LHFPL3	0	1	1	Substitution - coding silent(1)	kidney(1)	c.C24T												11	14	13					7																	103969251		1949	4092	6041	SO:0001819	synonymous_variant	375612	exon1			CGCTGCCGCCGCC	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.24C>T	7.37:g.103969251C>T			39	0	0		51	0.06	3	NM_199000	0		0	A1L383|A4D0Q5	Silent	SNP	ENST00000535008.1	37																																																																																						0.721	LHFPL3-201	KNOWN	basic	protein_coding	protein_coding				NM_199000		T	103969251	C	T	103969251	2	4	47	1	0	0	0	0	0	0	0	1	8781	639	23	1		1	LHFPL3	7	103969251	Silent	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	3688524	103969251	55169412	22	3315											
LRGUK	136332	broad.mit.edu	37	chr7	133943050	133943050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaaatgttcattgtttcGgttctgtccgtggtcaaaag	9	15	10	7	2	3	1	2	1	1	0	5	1	4	1	1	2	0	3	1	2	3	4			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr7:133943050G>T	ENST00000285928.2	+	19	2309	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	747						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						TCATTGTTTCGGTTCTGTCCG	0.453																																					p.R747L													LRGUK,NS,carcinoma,+1,1	LRGUK	113	1	0			c.G2240T												149	141	143					7																	133943050		2203	4300	6503	SO:0001583	missense	136332	exon19			TGTTTCGGTTCTG	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.2240G>T	7.37:g.133943050G>T	ENSP00000285928:p.Arg747Leu		206	0	0		295	0.02	6	NM_144648	0		0	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	g	9.651	1.141454	0.21205	.	.	ENSG00000155530	ENST00000285928	T	0.36340	1.26	3.64	-7.28	0.01456	.	2.405000	0.01522	N	0.018393	T	0.17789	0.0427	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.17722	0.019	T	0.11275	-1.0594	10	0.59425	D	0.04	10.2392	2.381	0.04354	0.2036:0.3904:0.2779:0.128	.	747	Q96M69	LRGUK_HUMAN	L	747	ENSP00000285928:R747L	ENSP00000285928:R747L	R	+	2	0	LRGUK	133593590	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.000000	0.03693	-1.751000	0.01326	-1.080000	0.02220	CGG			0.453	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339442.1		NM_144648		T	133943050	G	T	133943050	3	4	47	1	0	0	0	0	1	0	0	0	8959	1116	39	1	2314	1	LRGUK	7	133943050	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	29973799	133943050	25195613	23	3316											
ZNF775	285971	broad.mit.edu;mdanderson.org	37	chr7	150094605	150094605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccgcactgtggccgcggcTtccgccagaagcagcacctg	6	5	13	17	4	0	1	0	0	0	1	1	1	1	1	5	2	2	4	5	2	1	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr7:150094605T>C	ENST00000329630.5	+	3	1143	c.1036T>C	c.(1036-1038)Ttc>Ctc	p.F346L		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	346					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)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCGCGGCTTCCGCCAGAA	0.736																																					p.F346L													.	ZNF775	34		0			c.T1036C												4	6	5					7																	150094605		1902	3839	5741	SO:0001583	missense	285971	exon3			CGCGGCTTCCGCC	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1036T>C	7.37:g.150094605T>C	ENSP00000330838:p.Phe346Leu		10	0	0		14	0.36	5	NM_173680	21	0.19	4	Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122383	0.77436	.	.	ENSG00000196456	ENST00000329630	T	0.41065	1.01	3.78	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54886	0.1886	M	0.67953	2.075	0.34282	D	0.682289	P	0.52061	0.95	P	0.58520	0.84	T	0.66590	-0.5885	8	.	.	.	.	10.4888	0.44739	0.0:0.0:0.0:1.0	.	346	Q96BV0	ZN775_HUMAN	L	346	ENSP00000330838:F346L	.	F	+	1	0	ZNF775	149725538	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.908000	0.39907	1.571000	0.49722	0.260000	0.18958	TTC			0.736	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350679.1		NM_173680		C	150094605	T	C	150094605	3	2	47	1	0	0	0	0	1	0	0	0	18171	1609	56	4	1042	4	ZNF775	7	150094605	Missense_Mutation	SNP	T	TCGA-2G-AAH4-01A-12D-A42Y-10	16151555	150094605	9044058	24	3317											
MLL3	58508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	152012230	152012230	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaactgcttactttctctGtcctctttgttttcgtggtg	4	19	8	10	2	2	0	0	0	2	0	5	1	3	0	1	1	3	2	1	1	2	5			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr7:152012230G>A	ENST00000262189.6	-	4	801	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q195*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	195					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)										TACTTTCTCTGTCCTCTTTGT	0.338																																					p.Q195X													MLL3_ENST00000355193,NS,carcinoma,0,2	MLL3_ENST00000355193	0	2	0			c.C583T												218	186	197					7																	152012230		2203	4300	6503	SO:0001587	stop_gained	58508	exon4			TTCTCTGTCCTCT	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.583C>T	7.37:g.152012230G>A	ENSP00000262189:p.Gln195*		215	0	0		274	0.26	71	NM_170606	0		0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	37	6.249618	0.97412	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.78	5.78	0.91487	.	0.000000	0.42821	D	0.000647	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	20.0137	0.97470	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000262189:Q195X	Q	-	1	0	MLL3	151643163	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.980000	0.56895	2.734000	0.93682	0.563000	0.77884	CAG			0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3				A	152012230	G	A	152012230	4	1	47	1	0	0	0	0	0	1	0	0	9638	1386	48	3	14376	3	MLL3	7	152012230	Nonsense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	1917625	152012230	7126433	25	3318											
C9orf128	392307	broad.mit.edu	37	chr9	35826017	35826017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggtatggggctctaacgGggtctcagaggtggaaggct	9	8	18	6	1	2	2	1	0	2	2	3	3	2	3	0	8	1	3	0	8	3	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr9:35826017G>T	ENST00000423537.2	-	2	411	c.142C>A	c.(142-144)Ccg>Acg	p.P48T	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	48										endometrium(2)|kidney(1)|lung(4)	7						GGCTCTAACGGGGTCTCAGAG	0.552											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P48T													.	FAM221B	38		0			c.C142A												88	89	89					9																	35826017		1876	4094	5970	SO:0001583	missense	392307	exon2			CTAACGGGGTCTC	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 128"	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.142C>A	9.37:g.35826017G>T	ENSP00000415299:p.Pro48Thr		84	0	0	858	101	0.04	4	NM_001012446	0		0	Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	g	14.21	2.466607	0.43839	.	.	ENSG00000204930	ENST00000423537;ENST00000377984;ENST00000472182	T;T;T	0.38560	2.41;2.14;1.13	3.8	-1.68	0.08212	.	0.924887	0.08987	N	0.864960	T	0.30166	0.0756	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.51615	0.675	T	0.12785	-1.0534	10	0.49607	T	0.09	-16.5874	0.7315	0.00958	0.3048:0.1643:0.3628:0.1681	.	48	A6H8Z2	CI128_HUMAN	T	48	ENSP00000415299:P48T;ENSP00000367222:P48T;ENSP00000420279:P48T	ENSP00000367222:P48T	P	-	1	0	C9orf128	35816017	0.001000	0.12720	0.000000	0.03702	0.831000	0.47069	0.804000	0.27098	-0.318000	0.08665	0.645000	0.84053	CCG			0.552	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355861.1		NM_001012446		T	35826017	G	T	35826017	3	4	47	1	0	0	0	0	1	0	0	0	2457	1232	43	3	1090	3	C9orf128	9	35826017	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		35826017	105387414	26	3319											
PALM2	114299	bcgsc.ca	37	chr9	112629770	112629770	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtctctttattttcaaGgaaaaaagaaagaggcagac	15	11	8	7	0	3	3	1	0	2	3	4	4	3	4	0	2	0	1	0	2	6	4			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr9:112629770G>T	ENST00000374531.2	+	3	125		c.e3-1		PALM2_ENST00000314527.4_Splice_Site|PALM2-AKAP2_ENST00000374530.3_Splice_Site|AKAP2_ENST00000555236.1_Splice_Site|PALM2-AKAP2_ENST00000302798.7_Splice_Site|PALM2_ENST00000448454.2_Splice_Site|PALM2_ENST00000483909.1_Splice_Site|AKAP2_ENST00000510514.5_Splice_Site	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						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						TTATTTTCAAGGAAAAAAGAA	0.473																																					.													.	PALM2	51		0			c.52-1G>T												50	52	52					9																	112629770		2203	4300	6503	SO:0001630	splice_region_variant	445815	exon3			TTTCAAGGAAAAA	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.52-1G>T	9.37:g.112629770G>T			48	0	0		62	0.06	4	NM_001037293	0		0	A9Z1X9|Q8N9D5|Q96DU1	Splice_Site	SNP	ENST00000374531.2	37	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473759	0.63737	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4362	0.83875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PALM2-AKAP2;PALM2;AKAP2	111669591	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.313000	0.72844	2.667000	0.90743	0.650000	0.86243	.			0.473	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000053604.1		NM_001037293	Intron	T	112629770	G	T	112629770	5	4	47	1	0	0	0	0	0	0	1	0	11426	1014	35	3	61	3	PALM2	9	112629770	Splice_Site	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	76803753	112629770	28583661	27	3320											
MAN1B1	11253	broad.mit.edu;mdanderson.org	37	chr9	140002112	140002112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttcagccgattcacaCgggtgagcacctgtcctcgc	8	8	11	14	3	2	2	2	1	0	1	4	3	3	2	3	1	3	2	3	1	0	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr9:140002112C>T	ENST00000371589.4	+	12	1967	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.R335W	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	632					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|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 quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CCGATTCACACGGGTGAGCAC	0.657																																					p.R632W													.	MAN1B1	40		0			c.C1894T												102	85	91					9																	140002112		2203	4300	6503	SO:0001583	missense	11253	exon12			TTCACACGGGTGA	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1894C>T	9.37:g.140002112C>T	ENSP00000360645:p.Arg632Trp		24	0	0		39	0.08	3	NM_016219	209	0	0	Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.388|9.388	1.074868|1.074868	0.20227|0.20227	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000371589;ENST00000474902|ENST00000535144;ENST00000475449;ENST00000550113	T;T|T;T;T	0.74526|0.74632	-0.85;-0.85|-0.86;-0.86;-0.86	4.45|4.45	2.39|2.39	0.29439|0.29439	.|.	.|.	.|.	.|.	.|.	D|D	0.83138|0.83138	0.5189|0.5189	M|M	0.82716|0.82716	2.605|2.605	0.46798|0.46798	D|D	0.999201|0.999201	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.99;0.997;0.998|.	D|D	0.84474|0.84474	0.0601|0.0601	8|6	.|.	.|.	.|.	.|.	13.4573|13.4573	0.61206|0.61206	0.3439:0.6561:0.0:0.0|0.3439:0.6561:0.0:0.0	.|.	519;305;632|.	B4DPS9;B3KXZ1;Q9UKM7|.	.;.;MA1B1_HUMAN|.	W|M	632;335|605;105;69	ENSP00000360645:R632W;ENSP00000447256:R335W|ENSP00000441398:T605M;ENSP00000448658:T105M;ENSP00000450147:T69M	.|.	R|T	+|+	1|2	2|0	MAN1B1|MAN1B1	139121933|139121933	0.946000|0.946000	0.32159|0.32159	0.980000|0.980000	0.43619|0.43619	0.046000|0.046000	0.14306|0.14306	2.018000|2.018000	0.40991|0.40991	1.093000|1.093000	0.41377|0.41377	0.561000|0.561000	0.74099|0.74099	CGG|ACG			0.657	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055294.2		NM_016219		T	140002112	C	T	140002112	3	4	47	1	0	0	0	0	1	0	0	0	9228	527	19	1	1940	1	MAN1B1	9	140002112	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	27372342	140002112	1211319	28	3321											
C10orf140	387640	mdanderson.org	37	chr10	21805737	21805737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggtggtggtggtggtGgtggtgcggaggcgggcaga	4	9	25	3	2	0	2	0	1	0	1	0	3	0	3	0	10	1	1	0	10	0	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr10:21805737G>T	ENST00000449193.2	-	4	3267	c.1015C>A	c.(1015-1017)Cac>Aac	p.H339N	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Missense_Mutation_p.H260N	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	258	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											tggtggtggtggtggtgCGGA	0.746																																					p.H339N													.	.			0			c.C1015A												3	5	4					10																	21805737		1604	3527	5131	SO:0001583	missense	387640	exon4			GGTGGTGGTGGTG	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.1015C>A	10.37:g.21805737G>T	ENSP00000410041:p.His339Asn		23	0	0		20	0.15	3	NM_207371	9	0.11	1	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	G	1.329	-0.597267	0.03771	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	3.08	2.15	0.27550	.	0.953192	0.08636	U	0.916266	T	0.17109	0.0411	N	0.08118	0	0.23396	N	0.997765	B	0.29909	0.261	B	0.26416	0.069	T	0.26950	-1.0088	9	0.14252	T	0.57	.	7.6068	0.28107	0.1347:0.0:0.8653:0.0	.	339	E9PAX1	.	N	339;260	.	ENSP00000442432:H260N	H	-	1	0	C10orf140	21845743	1.000000	0.71417	0.984000	0.44739	0.666000	0.39218	4.350000	0.59392	0.383000	0.24910	0.400000	0.26472	CAC			0.746	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		T	21805737	G	T	21805737	3	4	47	1	0	0	0	0	1	0	0	0	1597	1348	47	3	1715	3	C10orf140	10	21805737	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		21805737	113729010	29	3322											
PTCHD3	374308	broad.mit.edu	37	chr10	27702322	27702322	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgccgtggttgtaggcGgggaaggagatgctgctcag	6	9	18	8	2	1	1	1	0	0	1	1	3	1	2	2	5	4	4	2	5	2	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr10:27702322G>T	ENST00000438700.3	-	1	975	c.858C>A	c.(856-858)ccC>ccA	p.P286P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	286					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						GGTTGTAGGCGGGGAAGGAGA	0.627																																					p.P286P													.	PTCHD3	140		0			c.C858A												62	67	65					10																	27702322		2203	4300	6503	SO:0001819	synonymous_variant	374308	exon1			GTAGGCGGGGAAG	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.858C>A	10.37:g.27702322G>T			80	0	0		78	0.04	3	NM_001034842	0		0	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																					0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047325.3		XM_370541		T	27702322	G	T	27702322	2	4	47	1	0	0	0	0	0	0	0	1	12754	1103	39	1		1	PTCHD3	10	27702322	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	5896585	27702322	107832425	30	3323											
BMS1	9790	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	43312871	43312871	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaattgaaggagatgtttGatgcagaatatgatgaagga	17	10	13	1	0	0	6	0	4	0	2	0	9	0	7	0	2	1	2	0	2	6	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr10:43312871G>C	ENST00000374518.5	+	15	2572	c.2509G>C	c.(2509-2511)Gat>Cat	p.D837H		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	837					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAGATGTTTGATGCAGAATA	0.383																																					p.D837H													.	.			0			c.G2509C												39	40	40					10																	43312871		2163	4122	6285	SO:0001583	missense	9790	exon15			ATGTTTGATGCAG	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2509G>C	10.37:g.43312871G>C	ENSP00000363642:p.Asp837His		58	0	0		53	0.36	19	NM_014753	78	0.41	32	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611254	0.66558	.	.	ENSG00000165733	ENST00000374518	T	0.18502	2.21	5.56	5.56	0.83823	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.237331	0.49916	D	0.000122	T	0.42832	0.1220	M	0.81682	2.555	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	T	0.21759	-1.0236	10	0.41790	T	0.15	.	12.8905	0.58069	0.0742:0.0:0.9258:0.0	.	837	Q14692	BMS1_HUMAN	H	837	ENSP00000363642:D837H	ENSP00000363642:D837H	D	+	1	0	BMS1	42632877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.603000	0.46266	2.638000	0.89438	0.552000	0.68991	GAT			0.383	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047690.2		NM_014753		C	43312871	G	C	43312871	3	2	47	1	0	0	0	0	1	0	0	0	1472	1290	45	5	2563	5	BMS1	10	43312871	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	15610549	43312871	92221876	31	3324											
CBARA1	10367	mdanderson.org	37	chr10	74128106	74128106	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattccttattgctcagttcGccattgcctagaggaagagg	10	12	10	9	1	1	2	1	0	0	2	3	3	2	3	3	2	2	2	3	2	4	6			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr10:74128106G>T	ENST00000361114.5	-	12	1374	c.1278C>A	c.(1276-1278)ggC>ggA	p.G426G	MICU1_ENST00000401998.3_Silent_p.G426G|MICU1_ENST00000398763.4_Silent_p.G228G|MICU1_ENST00000398761.4_Silent_p.G428G|MICU1_ENST00000418483.2_Silent_p.G228G	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	426	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TGCTCAGTTCGCCATTGCCTA	0.458																																					p.G426G													.	.			0			c.C1278A												79	73	75					10																	74128106		1946	4135	6081	SO:0001819	synonymous_variant	10367	exon12			CAGTTCGCCATTG	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1278C>A	10.37:g.74128106G>T			59	0	0		58	0.05	3	NM_001195518	100	0	0	A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	ENST00000361114.5	37	CCDS55715.1																																																																																					0.458	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048586.1		NM_006077		T	74128106	G	T	74128106	2	4	47	1	0	0	0	0	0	0	0	1	2698	1074	38	1		1	CBARA1	10	74128106	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	30815235	74128106	61406641	32	3325											
PDLIM1	9124	bcgsc.ca	37	chr10	97006973	97006973	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagatggagctgattaccTttttcttcagactccaggat	9	14	9	9	0	2	3	1	1	1	2	3	5	3	5	2	2	3	2	2	2	1	4			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr10:97006973T>C	ENST00000329399.6	-	5	792	c.684A>G	c.(682-684)aaA>aaG	p.K228K	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	228					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTGATTACCTTTTTCTTCAG	0.468											OREG0020387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K228K													.	PDLIM1	33		0			c.A684G												145	143	144					10																	97006973		2203	4300	6503	SO:0001630	splice_region_variant	9124	exon5			ATTACCTTTTTCT	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.685+1A>G	10.37:g.97006973T>C			56	0	0	1325	64	0.06	4	NM_020992	279	0	0	B2RBS6|Q5VZH5|Q9BPZ9	Silent	SNP	ENST00000329399.6	37	CCDS7441.1																																																																																					0.468	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049508.1			Silent	C	97006973	T	C	97006973	5	2	47	1	0	0	0	0	0	0	1	0	11696	1623	56	4	317	4	PDLIM1	10	97006973	Splice_Site	SNP	T	TCGA-2G-AAH4-01A-12D-A42Y-10	22878867	97006973	38527774	33	3326											
WNT8B	7479	mdanderson.org	37	chr10	102242248	102242248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgctccatctctacccGggagctggtgcacctggagg	5	10	12	14	2	1	0	0	0	1	0	4	2	2	2	3	4	3	3	3	4	1	2	rs143970308		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr10:102242248G>T	ENST00000343737.5	+	6	859	c.731G>T	c.(730-732)cGg>cTg	p.R244L		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	244					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		ATCTCTACCCGGGAGCTGGTG	0.672											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R244L													.	.			0			c.G731T												20	22	21					10																	102242248		2201	4298	6499	SO:0001583	missense	7479	exon6			CTACCCGGGAGCT	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.731G>T	10.37:g.102242248G>T	ENSP00000340677:p.Arg244Leu		13	0	0	1365	8	0.13	1	NM_003393	0		0	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736127	0.49045	.	.	ENSG00000075290	ENST00000343737	T	0.76186	-1.0	5.14	5.14	0.70334	.	0.051725	0.64402	D	0.000001	T	0.59945	0.2231	N	0.21240	0.645	0.42849	D	0.994072	B	0.21071	0.051	B	0.31191	0.125	T	0.56944	-0.7895	10	0.33141	T	0.24	.	6.7089	0.23266	0.2231:0.0:0.7769:0.0	.	244	Q93098	WNT8B_HUMAN	L	244	ENSP00000340677:R244L	ENSP00000340677:R244L	R	+	2	0	WNT8B	102232238	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	6.272000	0.72575	2.398000	0.81561	0.313000	0.20887	CGG			0.672	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049867.1		NM_003393		T	102242248	G	T	102242248	3	4	47	1	0	0	0	0	1	0	0	0	17421	1116	39	1	753	1	WNT8B	10	102242248	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	5235275	102242248	33292499	34	3327											
FBXW4	6468	bcgsc.ca	37	chr10	103371159	103371159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggggagtcgacgtcagCgggaaggcctggaagggagg	9	4	21	7	3	1	1	1	1	0	0	2	6	1	5	1	7	1	0	1	7	2	0	rs542215742	byFrequency	TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr10:103371159C>T	ENST00000331272.7	-	9	1746	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	376					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TCGACGTCAGCGGGAAGGCCT	0.597													C|||	2	0.000399361	0.0015	0	5008	,	,		20643	0		0	False		,,,				2504	0				p.P376P													.	FBXW4	39		0			c.G1128A												67	60	63					10																	103371159		2203	4300	6503	SO:0001819	synonymous_variant	6468	exon9			CGTCAGCGGGAAG	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"F-boxes / WD-40 domains", "WD repeat domain containing"	10847	protein-coding gene	gene with protein product		608071	"split hand/foot malformation (ectrodactyly) type 3", "F-box and WD-40 domain protein 4"	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.1128G>A	10.37:g.103371159C>T			68	0	0		55	0.07	4	NM_022039	186	0	0	Q5SVS1|Q96IM6	Silent	SNP	ENST00000331272.7	37	CCDS31271.1																																																																																					0.597	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049979.2		NM_022039		T	103371159	C	T	103371159	2	4	47	1	0	0	0	0	0	0	0	1	5780	755	27	1		1	FBXW4	10	103371159	Silent	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	1128911	103371159	32163588	35	3328											
MUC2	4583	mdanderson.org	37	chr11	1093342	1093342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggcacacagaccccaaccCcgacacccatctccaccacc	11	2	4	24	2	1	1	0	0	1	1	2	2	1	1	9	1	1	1	9	1	1	0	rs55695633		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr11:1093342C>A	ENST00000441003.2	+	30	5188	c.5161C>A	c.(5161-5163)Ccg>Acg	p.P1721T	MUC2_ENST00000333592.6_Missense_Mutation_p.P9T|MUC2_ENST00000359061.5_Missense_Mutation_p.P1688T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	gaccccaaccccgacacccat	0.642																																					p.P1721T													MUC2_ENST00000441003,NS,carcinoma,-2,2	MUC2_ENST00000441003	-2	2	0			c.C5161A												234	273	260					11																	1093342		1973	3751	5724	SO:0001583	missense	4583	exon30			CCAACCCCGACAC	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.5161C>A	11.37:g.1093342C>A	ENSP00000415183:p.Pro1721Thr		38	0	0		36	0.08	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	5.758	0.324335	0.10900	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.04917	3.53;3.69;3.76	1.4	0.392	0.16288	.	2.679550	0.04278	N	0.343350	T	0.06325	0.0163	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42832	-0.9428	9	0.87932	D	0	.	6.4437	0.21865	0.291:0.709:0.0:0.0	.	1721	E7EUV1	.	T	1721;1688;9	ENSP00000415183:P1721T;ENSP00000351956:P1688T;ENSP00000331373:P9T	ENSP00000331373:P9T	P	+	1	0	MUC2	1083342	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-2.316000	0.01123	-0.071000	0.12886	-1.119000	0.02030	CCG			0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		A	1093342	C	A	1093342	3	1	47	1	0	0	0	0	1	0	0	0	9991	623	22	3	5279	3	MUC2	11	1093342	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10		1093342	133913174	36	3329											
PGAP2	27315	mdanderson.org	37	chr11	3845201	3845201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctgcatcggcctgcactCggcgcctcgcttcttggtgg	2	13	12	14	4	2	0	0	0	2	0	5	0	2	0	2	4	2	3	2	4	0	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr11:3845201C>T	ENST00000463452.2	+	3	337	c.254C>T	c.(253-255)tCg>tTg	p.S85L	PGAP2_ENST00000396991.2_Missense_Mutation_p.S146L|PGAP2_ENST00000465307.2_Silent_p.L88L|PGAP2_ENST00000493547.2_Missense_Mutation_p.S85L|PGAP2_ENST00000300730.6_Missense_Mutation_p.S142L|PGAP2_ENST00000278243.4_Missense_Mutation_p.S146L|PGAP2_ENST00000396993.4_Silent_p.L38L|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000396986.2_Missense_Mutation_p.S142L|AC090587.2_ENST00000507938.1_RNA	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	85					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						GGCCTGCACTCGGCGCCTCGC	0.642																																					p.S203L													.	.			0			c.C608T												101	94	96					11																	3845201		2201	4298	6499	SO:0001583	missense	27315	exon5			TGCACTCGGCGCC	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.254C>T	11.37:g.3845201C>T	ENSP00000435223:p.Ser85Leu		67	0.0149253731	1		48	0.06	3	NM_001256236	47	0	0	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257870|4.257870	0.80246|0.80246	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000459679;ENST00000464906|ENST00000396986;ENST00000300730;ENST00000396991;ENST00000464261;ENST00000493547;ENST00000278243;ENST00000463452;ENST00000469307	.|T;T;T;T;T;T;T;T	.|0.40225	.|1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59418|0.59418	0.2192|0.2192	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.978;1.0;0.998;0.965	T|T	0.50136|0.50136	-0.8863|-0.8863	5|10	.|0.21540	.|T	.|0.41	-6.6468|-6.6468	15.6769|15.6769	0.77336|0.77336	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|142;85;146;85;85	.|A8MYS5;Q9UHJ9-3;Q9UHJ9;E9PJG5;Q9UHJ9-2	.|.;.;PGAP2_HUMAN;.;.	W|L	116;176|142;142;146;115;85;146;85;85	.|ENSP00000380183:S142L;ENSP00000300730:S142L;ENSP00000380188:S146L;ENSP00000434088:S115L;ENSP00000431851:S85L;ENSP00000278243:S146L;ENSP00000435223:S85L;ENSP00000434507:S85L	.|ENSP00000278243:S146L	R|S	+|+	1|2	2|0	PGAP2|PGAP2	3801777|3801777	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.942000|0.942000	0.58702|0.58702	6.983000|6.983000	0.76180|0.76180	2.766000|2.766000	0.95052|0.95052	0.655000|0.655000	0.94253|0.94253	CGG|TCG			0.642	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000383260.1				T	3845201	C	T	3845201	3	4	47	1	0	0	0	0	1	0	0	0	11795	893	31	1	626	1	PGAP2	11	3845201	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	2751859	3845201	131161315	37	3330											
ARHGAP1	392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	46717282	46717282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcaggtgtgtgacaagttCcggggagctgcttttggagt	6	13	15	7	1	1	1	1	1	0	0	2	3	2	3	1	4	2	3	1	4	1	4			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr11:46717282C>G	ENST00000311956.4	-	3	254	c.157G>C	c.(157-159)Gaa>Caa	p.E53Q		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	53					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GTGACAAGTTCCGGGGAGCTG	0.577																																					p.E53Q													.	.			0			c.G157C												116	101	106					11																	46717282		2153	4166	6319	SO:0001583	missense	392	exon3			CAAGTTCCGGGGA	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.157G>C	11.37:g.46717282C>G	ENSP00000310491:p.Glu53Gln		114	0	0		111	0.32	36	NM_004308	67	0.27	18	D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.212642|3.212642	0.58452|0.58452	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000311956;ENST00000443332;ENST00000525488|ENST00000528837	T;T|.	0.32023|.	2.22;1.47|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.718937|.	0.13297|.	N|.	0.398551|.	T|T	0.50377|0.50377	0.1612|0.1612	N|N	0.14661|0.14661	0.345|0.345	0.43313|0.43313	D|D	0.995326|0.995326	B;B|.	0.31730|.	0.337;0.037|.	B;B|.	0.26770|.	0.073;0.032|.	T|T	0.46884|0.46884	-0.9159|-0.9159	10|5	0.15952|.	T|.	0.53|.	.|.	18.347|18.347	0.90326|0.90326	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	53;53|.	B4DPZ4;Q07960|.	.;RHG01_HUMAN|.	Q|A	53|50	ENSP00000310491:E53Q;ENSP00000432794:E53Q|.	ENSP00000310491:E53Q|.	E|G	-|-	1|2	0|0	ARHGAP1|ARHGAP1	46673858|46673858	0.997000|0.997000	0.39634|0.39634	0.975000|0.975000	0.42487|0.42487	0.970000|0.970000	0.65996|0.65996	4.987000|4.987000	0.63857|0.63857	2.350000|2.350000	0.79820|0.79820	0.561000|0.561000	0.74099|0.74099	GAA|GGA			0.577	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390472.1		NM_004308		G	46717282	C	G	46717282	3	3	47	1	0	0	0	0	1	0	0	0	861	864	30	5	1206	5	ARHGAP1	11	46717282	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	42872081	46717282	88289234	38	3331											
ODZ4	26011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	78380844	78380844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattggcgtagggtcctacCttcagctccttcttcactac	6	14	8	13	1	3	0	2	0	1	0	5	0	5	0	3	2	3	3	3	2	4	8			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr11:78380844C>T	ENST00000278550.7	-	32	7008	c.6546G>A	c.(6544-6546)aaG>aaA	p.K2182K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2182					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)										AGGGTCCTACCTTCAGCTCCT	0.522																																					p.K2182K													.	.			0			c.G6546A												93	100	97					11																	78380844		2119	4238	6357	SO:0001819	synonymous_variant	26011	exon32			TCCTACCTTCAGC	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.6546G>A	11.37:g.78380844C>T			212	0	0		160	0.35	56	NM_001098816	16	0.63	10	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																					0.522	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391406.2				T	78380844	C	T	78380844	2	4	47	1	0	0	0	0	0	0	0	1	10854	680	24	3		3	ODZ4	11	78380844	Silent	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	31663562	78380844	56625672	39	3332											
PICALM	8301	mdanderson.org	37	chr11	85701308	85701308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccaacaaacatttcatGagtaggtgtcctagtagtaa	14	13	7	7	0	1	1	1	1	0	0	2	1	2	1	2	1	3	3	2	1	7	7			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr11:85701308G>T	ENST00000393346.3	-	13	1541	c.1393C>A	c.(1393-1395)Cat>Aat	p.H465N	PICALM_ENST00000532317.1_Intron|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000526033.1_Missense_Mutation_p.H458N|PICALM_ENST00000356360.5_Missense_Mutation_p.H465N			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	465					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AACATTTCATGAGTAGGTGTC	0.323			T	"MLLT10, MLL"	"TALL, AML, "																																p.H465N				Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	.	.			0			c.C1393A												121	121	121					11																	85701308		2203	4299	6502	SO:0001583	missense	8301	exon13			TTTCATGAGTAGG	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1393C>A	11.37:g.85701308G>T	ENSP00000377015:p.His465Asn		61	0	0		36	0.08	3	NM_007166	13	0	0	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.42|11.42	1.633731|1.633731	0.29068|0.29068	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000526033;ENST00000447890;ENST00000393346;ENST00000356360|ENST00000526961;ENST00000530542	T;T;T|.	0.36157|.	1.27;1.27;1.27|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.134111|.	0.49305|.	D|.	0.000144|.	T|.	0.69663|.	0.3136|.	L|L	0.44542|0.44542	1.39|1.39	0.50313|0.50313	D|D	0.999864|0.999864	D;P;P|.	0.57899|.	0.981;0.908;0.851|.	D;D;P|.	0.67900|.	0.954;0.922;0.838|.	T|.	0.62416|.	-0.6859|.	9|.	.|.	.|.	.|.	-10.0695|-10.0695	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	465;458;465|.	A8MX97;F8VPG7;Q13492|.	.;.;PICAL_HUMAN|.	N|X	458;465;465;465|73;167	ENSP00000433846:H458N;ENSP00000377015:H465N;ENSP00000348718:H465N|.	.|.	H|S	-|-	1|2	0|0	PICALM|PICALM	85378956|85378956	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	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAT|TCA			0.323	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392224.1		NM_007166		T	85701308	G	T	85701308	3	4	47	1	0	0	0	0	1	0	0	0	11897	1290	45	3	625	3	PICALM	11	85701308	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	7320464	85701308	49305208	40	3333											
FAT3	120114	hgsc.bcm.edu;mdanderson.org	37	chr11	92535075	92535075	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgagctaccatattacaGgtgagtaaatacccccagtt	14	10	8	9	0	0	2	0	2	0	0	0	2	0	2	3	1	4	3	3	1	7	6			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr11:92535075G>T	ENST00000298047.6	+	9	8913	c.8896G>T	c.(8896-8898)Gga>Tga	p.G2966*	FAT3_ENST00000409404.2_Splice_Site_p.G2966*|FAT3_ENST00000525166.1_Splice_Site_p.G2816*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2966	Cadherin 27. {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)				CCATATTACAGGTGAGTAAAT	0.498										TCGA Ovarian(4;0.039)																											p.G2966X													.	.			0			c.G8896T												42	43	43					11																	92535075		1929	4140	6069	SO:0001630	splice_region_variant	120114	exon9			ATTACAGGTGAGT	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.8896+1G>T	11.37:g.92535075G>T			115	0	0		92	0.04	4	NM_001008781	0		0	B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	50	16.770059	0.99871	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	.	.	.	X	2966;2966;2816	.	ENSP00000298047:G2966X	G	+	1	0	FAT3	92174723	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.787000	0.99055	2.652000	0.90054	0.563000	0.77884	GGA			0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding				NM_001008781	Nonsense_Mutation	T	92535075	G	T	92535075	5	4	47	1	0	0	0	0	0	0	1	0	5704	1014	35	3	8930	3	FAT3	11	92535075	Splice_Site	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	6833767	92535075	42471441	41	3334											
ELMOD1	55531	broad.mit.edu	37	chr11	107521086	107521086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcggaaagggatgccacaGcagctcagcaggtcctgtct	9	7	13	12	2	2	0	1	0	1	0	4	2	3	2	2	3	4	3	2	3	1	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr11:107521086G>T	ENST00000265840.7	+	8	845	c.580G>T	c.(580-582)Gca>Tca	p.A194S	ELMOD1_ENST00000443271.2_Missense_Mutation_p.A194S|ELMOD1_ENST00000531234.1_Missense_Mutation_p.A188S	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	194	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GGATGCCACAGCAGCTCAGCA	0.413																																					p.A194S													.	ELMOD1	40		0			c.G580T												50	53	52					11																	107521086		1968	4177	6145	SO:0001583	missense	55531	exon8			GCCACAGCAGCTC	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.580G>T	11.37:g.107521086G>T	ENSP00000265840:p.Ala194Ser		93	0	0		66	0.05	3	NM_018712	2	0	0	B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493858	0.26774	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.30714	1.52;1.52;1.52	5.31	4.2	0.49525	Engulfment/cell motility, ELMO (2);	0.556881	0.20382	N	0.093429	T	0.14442	0.0349	N	0.12611	0.24	0.22489	N	0.999057	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.003	T	0.22941	-1.0202	10	0.09338	T	0.73	.	8.6493	0.34025	0.1316:0.0:0.73:0.1384	.	194;194	Q8N336;G5E9S5	ELMD1_HUMAN;.	S	188;194;194	ENSP00000433232:A188S;ENSP00000265840:A194S;ENSP00000412257:A194S	ENSP00000265840:A194S	A	+	1	0	ELMOD1	107026296	0.037000	0.19845	0.974000	0.42286	0.978000	0.69477	0.721000	0.25911	2.477000	0.83638	0.563000	0.77884	GCA			0.413	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389406.1		NM_018712		T	107521086	G	T	107521086	3	4	47	1	0	0	0	0	1	0	0	0	5075	971	34	2	606	2	ELMOD1	11	107521086	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	14986011	107521086	27485430	42	3335											
FAM118B	79607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	126126463	126126463	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtatcttttccttccagaGagaaattcagaaactctacg	12	14	6	9	1	3	3	1	0	2	3	5	4	5	3	2	0	2	1	2	0	4	7			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr11:126126463G>C	ENST00000533050.1	+	7	1191	c.698G>C	c.(697-699)aGa>aCa	p.R233T	FAM118B_ENST00000360194.4_Splice_Site_p.R233T|FAM118B_ENST00000529731.1_Splice_Site_p.R157T	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	233										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TCCTTCCAGAGAGAAATTCAG	0.448																																					p.R233T													.	.			0			c.G698C												49	49	49					11																	126126463		2201	4299	6500	SO:0001630	splice_region_variant	79607	exon7			TCCAGAGAGAAAT	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.697-1G>C	11.37:g.126126463G>C			53	0	0		47	0.36	17	NM_024556	41	0.51	21	Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200836	0.58234	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000525338	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	N	0.08118	0	0.80722	D	1	D;P;P	0.57899	0.981;0.901;0.948	D;P;P	0.66351	0.943;0.537;0.765	T	0.14282	-1.0478	10	0.12103	T	0.63	-14.7296	18.5746	0.91150	0.0:0.0:1.0:0.0	.	157;233;233	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	T	233;233;157;233;157	ENSP00000433343:R233T;ENSP00000434952:R233T;ENSP00000432712:R157T;ENSP00000353321:R233T;ENSP00000435754:R157T	ENSP00000353321:R233T	R	+	2	0	FAM118B	125631673	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.945000	0.70226	2.606000	0.88127	0.491000	0.48974	AGA			0.448	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386346.1		NM_024556	Missense_Mutation	C	126126463	G	C	126126463	5	2	47	1	0	0	0	0	0	0	1	0	5422	956	33	5	716	5	FAM118B	11	126126463	Splice_Site	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	18605377	126126463	8880053	43	3336											
GPR162	27239	broad.mit.edu	37	chr12	6933730	6933730	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggagagtggggggtggTggggggaccaaagcgggtgg	6	4	25	6	2	0	1	0	0	0	1	0	3	0	2	2	10	1	0	2	10	1	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr12:6933730T>G	ENST00000311268.3	+	2	1453	c.666T>G	c.(664-666)ggT>ggG	p.G222G	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGGGGGTGGTGGGGGGACCA	0.677																																					p.G222G													.	GPR162	55		0			c.T666G												25	31	29					12																	6933730		2202	4298	6500	SO:0001819	synonymous_variant	27239	exon2			GGGTGGTGGGGGG	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.666T>G	12.37:g.6933730T>G			55	0.1272727273	7		189	0.14	26	NM_019858	0		0	Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	CCDS8563.1																																																																																					0.677	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399478.1		NM_019858		G	6933730	T	G	6933730	2	3	47	1	0	0	0	0	0	0	0	1	6680	1683	59	4		4	GPR162	12	6933730	Silent	SNP	T	TCGA-2G-AAH4-01A-12D-A42Y-10		6933730	126918165	44	3337											
GYS2	2998	broad.mit.edu	37	chr12	21690032	21690032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttcatcttccacatcactGctctgaggactggaggcctg	8	11	9	13	0	4	1	2	1	2	0	5	3	5	3	2	3	1	1	2	3	0	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr12:21690032G>T	ENST00000261195.2	-	16	2222	c.1968C>A	c.(1966-1968)agC>agA	p.S656R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	656					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						CCACATCACTGCTCTGAGGAC	0.473																																					p.S656R	Colon(149;9 1820 3690 10544 50424)												GYS2,NS,carcinoma,0,1	GYS2	110	1	0			c.C1968A												151	111	124					12																	21690032		2203	4300	6503	SO:0001583	missense	2998	exon16			ATCACTGCTCTGA		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.1968C>A	12.37:g.21690032G>T	ENSP00000261195:p.Ser656Arg		392	0.0025510204	1		978	0.01	7	NM_021957	0		0	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877583	0.51801	.	.	ENSG00000111713	ENST00000261195	T	0.63913	-0.07	4.93	4.93	0.64822	.	0.323074	0.37393	N	0.002106	T	0.51873	0.1700	L	0.38175	1.15	0.30811	N	0.738831	B	0.19935	0.04	B	0.25614	0.062	T	0.49670	-0.8915	10	0.19590	T	0.45	-15.9331	14.14	0.65313	0.0:0.0:0.7873:0.2127	.	656	P54840	GYS2_HUMAN	R	656	ENSP00000261195:S656R	ENSP00000261195:S656R	S	-	3	2	GYS2	21581299	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.957000	0.40392	2.539000	0.85634	0.655000	0.94253	AGC			0.473	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402396.1		NM_021957		T	21690032	G	T	21690032	3	4	47	1	0	0	0	0	1	0	0	0	6928	1310	46	2	147	2	GYS2	12	21690032	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	14756302	21690032	112161863	45	3338											
FGD4	121512	broad.mit.edu	37	chr12	32764204	32764204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacacttcagcacaagaacGctaccttttcttagtgagta	13	11	7	10	1	2	2	1	1	1	1	2	3	2	2	1	0	4	3	1	0	6	6	rs281865063		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr12:32764204G>T	ENST00000427716.2	+	10	1749	c.1325G>T	c.(1324-1326)cGc>cTc	p.R442L	FGD4_ENST00000546442.1_Missense_Mutation_p.R349L|FGD4_ENST00000525053.1_Missense_Mutation_p.R554L|FGD4_ENST00000381025.3_Missense_Mutation_p.R194L|FGD4_ENST00000266482.3_Missense_Mutation_p.R194L|FGD4_ENST00000534526.2_Missense_Mutation_p.R579L|FGD4_ENST00000531134.1_Missense_Mutation_p.R527L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	442	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)|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)					GCACAAGAACGCTACCTTTTC	0.398																																					p.R442L													FGD4,NS,carcinoma,0,1	FGD4	86	1	0			c.G1325T												84	86	86					12																	32764204		2203	4300	6503	SO:0001583	missense	121512	exon10			AAGAACGCTACCT	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.1325G>T	12.37:g.32764204G>T	ENSP00000394487:p.Arg442Leu		107	0	0		272	0.01	4	NM_139241	5	0	0	Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012108	0.93346	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.52532	D	0.000073	D	0.96947	0.9003	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	0.99;0.99;1.0;0.998	D;D;D;D	0.83275	0.939;0.939;0.996;0.963	D	0.97128	0.9816	10	0.59425	D	0.04	-10.9254	19.4328	0.94778	0.0:0.0:1.0:0.0	.	554;527;442;194	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	L	579;527;442;194;349;554;194	ENSP00000449273:R579L;ENSP00000431323:R527L;ENSP00000394487:R442L;ENSP00000266482:R194L;ENSP00000446695:R349L;ENSP00000433666:R554L;ENSP00000370413:R194L	ENSP00000266482:R194L	R	+	2	0	FGD4	32655471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.611000	0.98342	2.584000	0.87258	0.563000	0.77884	CGC			0.398	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268017.1		NM_139241		T	32764204	G	T	32764204	3	4	47	1	0	0	0	0	1	0	0	0	5848	1087	38	1	1355	1	FGD4	12	32764204	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	11074172	32764204	101087691	46	3339											
CPSF6	11052	broad.mit.edu	37	chr12	69646900	69646900	+	Frame_Shift_Del	DEL	T	T	-																															atgatattttggagataaaaTtttttgaaaatcgggcaaat																										TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr12:69646900delT	ENST00000435070.2	+	3	450	c.340delT	c.(340-342)tttfs	p.F115fs	CPSF6_ENST00000456847.3_Frame_Shift_Del_p.F115fs|CPSF6_ENST00000266679.8_Frame_Shift_Del_p.F115fs|CPSF6_ENST00000550987.1_3'UTR|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	115	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			GGAGATAAAATTTTTTGAAAA	0.328																																					p.F114fs													.	CPSF6	96		0			c.340delT												60	65	63					12																	69646900		2203	4299	6502	SO:0001589	frameshift_variant	11052	exon3			ATAAAATTTTTTG	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.340delT	12.37:g.69646900delT	ENSP00000391774:p.Phe115fs		513	0	0		2833	0	7	NM_007007	70	0	0	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Frame_Shift_Del	DEL	ENST00000435070.2	37	CCDS8988.1																																																																																					0.328	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403609.1		NM_007007		-	69646900	T	-	69646900	7	5	47	1	0	1	0	1	0	0	0	0	3831	1493	52	0	350	0	CPSF6	12	69646900	Frame_Shift_Del	DEL	T	TCGA-2G-AAH4-01A-12D-A42Y-10	36882696	69646900	64204995	47	3340											
STOML3	161003	mdanderson.org	37	chr13	39542579	39542579	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagcctcggctgccatGgatctctgcaactgcacggg	6	8	12	15	2	2	0	1	0	1	0	4	1	2	1	3	3	5	3	3	3	1	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr13:39542579G>T	ENST00000379631.4	-	6	953	c.609C>A	c.(607-609)tcC>tcA	p.S203S	STOML3_ENST00000423210.1_Silent_p.S194S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	203					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)		CGGCTGCCATGGATCTCTGCA	0.562																																					p.S203S													.	.			0			c.C609A												104	98	100					13																	39542579		2203	4300	6503	SO:0001819	synonymous_variant	161003	exon6			TGCCATGGATCTC	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.609C>A	13.37:g.39542579G>T			61	0	0		39	0.08	3	NM_145286	1	0	0	B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	CCDS9367.1																																																																																					0.562	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000044604.2				T	39542579	G	T	39542579	2	4	47	1	0	0	0	0	0	0	0	1	15338	1335	47	3		3	STOML3	13	39542579	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		39542579	75627299	48	3341											
HERC2	8924	broad.mit.edu	37	chr15	28483779	28483779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgttaacgactgtgtCtggaagtcctttatatcata	9	17	7	8	1	2	0	1	0	1	0	4	2	4	1	2	1	1	1	2	1	5	6			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr15:28483779C>A	ENST00000261609.7	-	24	3825	c.3717G>T	c.(3715-3717)caG>caT	p.Q1239H		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGACTGTGTCTGGAAGTCCT	0.368																																					p.Q1239H													.	HERC2	501		0			c.G3717T												58	54	56					15																	28483779		2203	4298	6501	SO:0001583	missense	8924	exon24			CTGTGTCTGGAAG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3717G>T	15.37:g.28483779C>A	ENSP00000261609:p.Gln1239His		465	0	0		530	0.01	7	NM_004667	3	0	0		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652274	0.67472	.	.	ENSG00000128731	ENST00000261609	T	0.80033	-1.33	5.7	5.7	0.88788	Cytochrome b5 (4);	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	M	0.62723	1.935	0.80722	D	1	B	0.25007	0.116	B	0.24974	0.057	T	0.75348	-0.3349	10	0.59425	D	0.04	.	10.8774	0.46919	0.0:0.8863:0.0:0.1137	.	1239	O95714	HERC2_HUMAN	H	1239	ENSP00000261609:Q1239H	ENSP00000261609:Q1239H	Q	-	3	2	HERC2	26157374	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	2.108000	0.41854	2.704000	0.92352	0.650000	0.86243	CAG			0.368	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251358.2		NM_004667		A	28483779	C	A	28483779	3	1	47	1	0	0	0	0	1	0	0	0	7073	912	32	3	11067	3	HERC2	15	28483779	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10		28483779	74047613	49	3342											
NEIL1	79661	ucsc.edu	37	chr15	75646086	75646086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctgtcccacagggggcaAaggctacgggtcagagagcg	9	5	15	12	2	2	1	1	0	1	1	3	2	3	1	2	4	2	2	2	4	2	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr15:75646086A>G	ENST00000564784.1	+	7	1354	c.725A>G	c.(724-726)aAa>aGa	p.K242R	RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|NEIL1_ENST00000569035.1_Missense_Mutation_p.K242R|NEIL1_ENST00000355059.4_Missense_Mutation_p.K242R			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	242			K -> R (in RNA edited version).		base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						ACAGGGGGCAAAGGCTACGGG	0.632								Base excision repair (BER), DNA glycosylases																													p.K328R													.	NEIL1	36		0			c.A983G												78	77	77					15																	75646086		2197	4294	6491	SO:0001583	missense	79661	exon6			GGGGCAAAGGCTA	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.725A>G	15.37:g.75646086A>G	ENSP00000457352:p.Lys242Arg		83	0	0		82	0.02	2	NM_001256552	13	0.77	10	D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151899	0.57151	.	.	ENSG00000140398	ENST00000355059	T	0.13901	2.55	5.15	5.15	0.70609	Ribosomal protein S13-like, H2TH (1);	0.089658	0.85682	D	0.000000	T	0.14657	0.0354	L	0.55481	1.735	0.46823	D	0.99921	B	0.19445	0.036	B	0.15870	0.014	T	0.05305	-1.0893	10	0.19147	T	0.46	-15.0349	14.1437	0.65336	1.0:0.0:0.0:0.0	.	242	Q96FI4	NEIL1_HUMAN	R	242	ENSP00000347170:K242R	ENSP00000347170:K242R	K	+	2	0	NEIL1	73433139	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.112000	0.71547	1.947000	0.56498	0.459000	0.35465	AAA			0.632	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419885.1	rescued with RNA-seq	NM_024608		G	75646086	A	G	75646086	3	3	47	1	0	0	0	0	1	0	0	0	10335	14	1	4	743	4	NEIL1	15	75646086	Missense_Mutation	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10	47162307	75646086	26885306	50	3343											
SOLH	6650	mdanderson.org	37	chr16	602443	602443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttcgtcagctgcgacGtcatgctggagcctggcgag	8	8	15	10	4	2	1	2	0	0	1	3	4	2	2	1	2	4	3	1	2	1	1	rs148952789		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr16:602443G>A	ENST00000219611.2	+	11	3013	c.2650G>A	c.(2650-2652)Gtc>Atc	p.V884I	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	884					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)										CAGCTGCGACGTCATGCTGGA	0.711																																					p.V884I													.	.			0			c.G2650A							G	ILE/VAL	0,4342		0,0,2171	22	28	26		2650	5.5	1	16	dbSNP_134	26	3,8565		0,3,4281	no	missense	SOLH	NM_005632.2	29	0,3,6452	AA,AG,GG		0.035,0.0,0.0232	possibly-damaging	884/1087	602443	3,12907	2171	4284	6455	SO:0001583	missense	6650	exon11			TGCGACGTCATGC	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.2650G>A	16.37:g.602443G>A	ENSP00000219611:p.Val884Ile		30	0	0		34	0.09	3	NM_005632	34	0	0	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	17.79	3.475442	0.63737	0.0	3.5E-4	ENSG00000103326	ENST00000219611	D	0.89196	-2.48	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	L	0.54323	1.7	0.50467	D	0.99987	D	0.76494	0.999	D	0.75020	0.985	D	0.88888	0.3344	10	0.13853	T	0.58	.	17.9079	0.88925	0.0:0.0:1.0:0.0	.	884	O75808	CAN15_HUMAN	I	884	ENSP00000219611:V884I	ENSP00000219611:V884I	V	+	1	0	SOLH	542444	1.000000	0.71417	0.990000	0.47175	0.924000	0.55760	6.408000	0.73285	2.580000	0.87095	0.556000	0.70494	GTC	0		0.711	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239271.1		NM_005632		A	602443	G	A	602443	3	1	47	1	0	0	0	0	1	0	0	0	14948	1145	40	1	2680	1	SOLH	16	602443	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		602443	89752310	51	3344											
UBN1	29855	mdanderson.org	37	chr16	4924755	4924755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtacatcagtccaaagctAagcaccacagcttgccacgg	14	6	8	13	1	1	0	1	0	0	0	2	0	2	0	3	1	5	4	3	1	4	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr16:4924755A>G	ENST00000396658.4	+	14	3047	c.2344A>G	c.(2344-2346)Aag>Gag	p.K782E	UBN1_ENST00000262376.6_Missense_Mutation_p.K782E|UBN1_ENST00000545171.1_Missense_Mutation_p.K782E|UBN1_ENST00000590769.1_Missense_Mutation_p.K782E	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	782					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						GTCCAAAGCTAAGCACCACAG	0.567																																					p.K782E													.	.			0			c.A2344G												68	72	71					16																	4924755		2197	4300	6497	SO:0001583	missense	29855	exon15			AAAGCTAAGCACC	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.2344A>G	16.37:g.4924755A>G	ENSP00000379894:p.Lys782Glu		41	0	0		44	0.07	3	NM_001079514	25	0	0	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974369	0.74246	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.39229	1.09;1.09;1.09	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000011	T	0.48040	0.1478	L	0.32530	0.975	0.35992	D	0.836803	D;D	0.67145	0.996;0.995	D;D	0.77004	0.987;0.989	T	0.45264	-0.9273	10	0.08381	T	0.77	-16.1182	13.2946	0.60290	1.0:0.0:0.0:0.0	.	782;782	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	E	782	ENSP00000262376:K782E;ENSP00000442379:K782E;ENSP00000379894:K782E	ENSP00000262376:K782E	K	+	1	0	UBN1	4864756	1.000000	0.71417	0.966000	0.40874	0.891000	0.51852	6.212000	0.72188	2.079000	0.62486	0.379000	0.24179	AAG			0.567	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251719.1		NM_016936		G	4924755	A	G	4924755	3	3	47	1	0	0	0	0	1	0	0	0	16916	363	13	4	2398	4	UBN1	16	4924755	Missense_Mutation	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10	4322312	4924755	85429998	52	3345											
CDR2	1039	broad.mit.edu	37	chr16	22359014	22359014	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagtcacccgcttctgccGctccaggctcagctgggcct	5	9	10	17	2	3	0	2	0	1	0	4	0	4	0	4	2	2	4	4	2	1	2	rs372632705		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr16:22359014G>T	ENST00000268383.2	-	5	944	c.637C>A	c.(637-639)Cgg>Agg	p.R213R		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	213						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CGCTTCTGCCGCTCCAGGCTC	0.542																																					p.R213R													.	CDR2	34		0			c.C637A												141	137	139					16																	22359014		2197	4300	6497	SO:0001819	synonymous_variant	1039	exon5			TCTGCCGCTCCAG	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.637C>A	16.37:g.22359014G>T			122	0	0		128	0.02	3	NM_001802	73	0	0	A8K8A8|Q13977	Silent	SNP	ENST00000268383.2	37	CCDS32404.1																																																																																					0.542	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430081.1				T	22359014	G	T	22359014	2	4	47	1	0	0	0	0	0	0	0	1	3174	1086	38	1		1	CDR2	16	22359014	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	17434259	22359014	67995739	53	3346											
ZNF629	23361	mdanderson.org	37	chr16	30793488	30793488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagctgaggccaaagctttGtttgcattcagggcatttaa	11	12	11	7	0	1	2	1	1	0	1	1	2	1	2	1	2	3	5	1	2	2	5			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr16:30793488G>T	ENST00000262525.4	-	3	2368	c.2161C>A	c.(2161-2163)Caa>Aaa	p.Q721K	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	721					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)			CCAAAGCTTTGTTTGCATTCA	0.542																																					p.Q721K													.	.			0			c.C2161A												45	47	46					16																	30793488		1917	4124	6041	SO:0001583	missense	23361	exon3			AGCTTTGTTTGCA	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.2161C>A	16.37:g.30793488G>T	ENSP00000262525:p.Gln721Lys		61	0	0		56	0.07	4	NM_001080417	29	0	0	Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710075	0.00712	.	.	ENSG00000102870	ENST00000262525	T	0.35973	1.28	5.65	3.37	0.38596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.141866	0.32081	N	0.006611	T	0.08447	0.0210	N	0.00621	-1.32	0.22330	N	0.99919	B	0.02656	0.0	B	0.01281	0.0	T	0.37731	-0.9693	10	0.02654	T	1	-6.6998	5.9927	0.19476	0.0:0.1493:0.1429:0.7078	.	721	Q9UEG4	ZN629_HUMAN	K	721	ENSP00000262525:Q721K	ENSP00000262525:Q721K	Q	-	1	0	ZNF629	30700989	0.077000	0.21312	1.000000	0.80357	0.907000	0.53573	-0.014000	0.12656	0.424000	0.26061	-1.492000	0.00969	CAA			0.542	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434291.1		NM_015309		T	30793488	G	T	30793488	3	4	47	1	0	0	0	0	1	0	0	0	18076	1386	48	3	452	3	ZNF629	16	30793488	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	8434474	30793488	59561265	54	3347											
CES2	8824	broad.mit.edu	37	chr16	66974255	66974255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtgtcctgggcttctTcaggtgagactagggctggg	4	11	17	9	0	2	1	1	1	1	1	3	2	3	1	2	5	0	2	2	5	1	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr16:66974255T>C	ENST00000317091.4	+	4	1730	c.746T>C	c.(745-747)tTc>tCc	p.F249S	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.F249S	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	185					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CTGGGCTTCTTCAGGTGAGAC	0.597																																					p.F249S	Ovarian(70;1230 1691 37888 38351)												.	CES2	43		0			c.T746C												166	139	148					16																	66974255		2200	4300	6500	SO:0001583	missense	8824	exon4			GCTTCTTCAGGTG	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"Carboxylesterases"	1864	protein-coding gene	gene with protein product		605278	"carboxylesterase 2 (intestine, liver)"			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.746T>C	16.37:g.66974255T>C	ENSP00000317842:p.Phe249Ser		120	0.0083333333	1		182	0.02	3	NM_003869	68	0	0	A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746438	0.89663	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.68624	-0.34;-0.34	5.35	4.23	0.50019	Carboxylesterase, type B (1);	0.157061	0.42172	D	0.000742	T	0.81721	0.4882	M	0.85859	2.78	0.36554	D	0.872019	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.993	D	0.86171	0.1600	10	0.87932	D	0	.	10.574	0.45217	0.1445:0.0:0.0:0.8555	.	185;249	O00748;A8K367	EST2_HUMAN;.	S	249	ENSP00000394452:F249S;ENSP00000317842:F249S	ENSP00000317842:F249S	F	+	2	0	CES2	65531756	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.485000	0.66850	1.015000	0.39444	0.529000	0.55759	TTC			0.597	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268838.2		NM_003869		C	66974255	T	C	66974255	3	2	47	1	0	0	0	0	1	0	0	0	3272	1783	62	4	760	4	CES2	16	66974255	Missense_Mutation	SNP	T	TCGA-2G-AAH4-01A-12D-A42Y-10	36180767	66974255	23380498	55	3348											
ANKRD11	29123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	89347466	89347466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggcgccctgtcttccatCgagggtggcatgggagagtc	6	8	17	10	2	1	1	0	0	1	1	4	3	2	1	2	5	0	1	2	5	0	1	rs140164595		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr16:89347466C>T	ENST00000301030.4	-	9	5944	c.5484G>A	c.(5482-5484)tcG>tcA	p.S1828S	ANKRD11_ENST00000378330.2_Silent_p.S1828S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1828	Pro-rich.				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)		TGTCTTCCATCGAGGGTGGCA	0.627																																					p.S1828S													.	.			0			c.G5484A							C		0,4396		0,0,2198	31	35	34		5484	1	0.4	16	dbSNP_134	34	1,8599		0,1,4299	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		1828/2664	89347466	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	29123	exon9			TTCCATCGAGGGT	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.5484G>A	16.37:g.89347466C>T			41	0	0		56	0.45	25	NM_001256183	92	0.36	33	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																			0		0.627	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		T	89347466	C	T	89347466	2	4	47	1	0	0	0	0	0	0	0	1	639	871	31	1		1	ANKRD11	16	89347466	Silent	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	22373211	89347466	1007287	56	3349											
CDK10	8558	mdanderson.org	37	chr16	89762054	89762054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccaccgcaacaagcgggCcgccccagccacctccgagg	9	1	10	21	4	0	0	0	0	0	0	1	1	1	0	9	2	3	1	9	2	2	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr16:89762054C>T	ENST00000353379.7	+	13	1080	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	CDK10_ENST00000505473.1_Intron|CDK10_ENST00000331006.8_Missense_Mutation_p.A299V	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	346					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		AACAAGCGGGCCGCCCCAGCC	0.662																																					p.A346V													.	.			0			c.C1037T												20	26	24					16																	89762054		2192	4294	6486	SO:0001583	missense	8558	exon13			AGCGGGCCGCCCC	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.1037C>T	16.37:g.89762054C>T	ENSP00000338673:p.Ala346Val		30	0	0		41	0.07	3	NM_052988	238	0	1	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804341	0.70682	.	.	ENSG00000185324	ENST00000331006;ENST00000353379	T;T	0.71698	-0.59;-0.53	4.63	4.63	0.57726	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56543	0.1992	N	0.14661	0.345	0.80722	D	1	B;B	0.21688	0.059;0.058	B;B	0.17722	0.014;0.019	T	0.55296	-0.8163	10	0.46703	T	0.11	-14.0806	17.4935	0.87711	0.0:1.0:0.0:0.0	.	346;269	Q15131;Q15131-3	CDK10_HUMAN;.	V	299;346	ENSP00000329957:A299V;ENSP00000338673:A346V	ENSP00000329957:A299V	A	+	2	0	CDK10	88289555	0.995000	0.38212	0.912000	0.35992	0.922000	0.55478	2.218000	0.42889	2.122000	0.65172	0.650000	0.86243	GCC			0.662	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269925.2				T	89762054	C	T	89762054	3	4	47	1	0	0	0	0	1	0	0	0	3127	739	26	2	1087	2	CDK10	16	89762054	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	414588	89762054	592699	57	3350											
FBXW10	10517	broad.mit.edu	37	chr17	18659367	18659367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttgttagaatgagtacAacctgtggactgcataccag	11	11	9	10	0	0	2	0	1	0	1	1	3	1	3	3	1	4	3	3	1	5	4	rs201169182		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr17:18659367A>G	ENST00000395665.4	+	6	1353	c.1132A>G	c.(1132-1134)Aac>Gac	p.N378D	FBXW10_ENST00000308799.4_Missense_Mutation_p.N407D|FBXW10_ENST00000301938.4_Missense_Mutation_p.N378D|FBXW10_ENST00000395667.1_Missense_Mutation_p.N378D			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	378								p.N378D(2)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAATGAGTACAACCTGTGGAC	0.478																																					p.N378D													FBXW10,NS,carcinoma,0,1	FBXW10	82	1	2	Substitution - Missense(2)	urinary_tract(1)|endometrium(1)	c.A1132G												57	55	56					17																	18659367		2203	4298	6501	SO:0001583	missense	10517	exon6			GAGTACAACCTGT	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1132A>G	17.37:g.18659367A>G	ENSP00000379025:p.Asn378Asp		113	0.0088495575	1		175	0.27	47	NM_001267585	0		0	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	183	0.08379120879120878	29	0.05894308943089431	37	0.10220994475138122	78	0.13636363636363635	39	0.051451187335092345	A	10.78	1.445868	0.25987	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	2.89	1.73	0.24493	F-box domain, Skp2-like (1);	1.275070	0.05828	U	0.617083	T	0.00210	0.0006	M	0.69823	2.125	0.27147	N	0.961514	P;B;P;P	0.50272	0.933;0.136;0.89;0.744	B;B;B;B	0.41510	0.359;0.046;0.197;0.21	T	0.12708	-1.0537	10	0.54805	T	0.06	.	6.9765	0.24679	0.7659:0.2341:0.0:0.0	.	378;407;378;378	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	D	378;407;378;378	ENSP00000379026:N378D;ENSP00000310382:N407D;ENSP00000306937:N378D;ENSP00000379025:N378D	ENSP00000306937:N378D	N	+	1	0	FBXW10	18600092	0.996000	0.38824	0.997000	0.53966	0.221000	0.24807	2.989000	0.49393	0.191000	0.20236	0.155000	0.16302	AAC			0.478	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313531.2		NM_031456		G	18659367	A	G	18659367	3	3	47	1	0	0	0	0	1	0	0	0	5776	130	5	4	1154	4	FBXW10	17	18659367	Missense_Mutation	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10		18659367	62535843	58	3351											
FBXW10	10517	broad.mit.edu;mdanderson.org	37	chr17	18673363	18673363	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagccaatggcagaggTgatcctgtgctgtccttctt	9	13	10	9	0	1	2	0	1	1	1	3	2	3	2	3	2	2	2	3	2	3	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr17:18673363T>C	ENST00000395665.4	+	11	2192	c.1971T>C	c.(1969-1971)ggT>ggC	p.G657G	FBXW10_ENST00000308799.4_Silent_p.G686G|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000573605.1_Splice_Site|FBXW10_ENST00000395667.1_Silent_p.G657G			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	657										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ATGGCAGAGGTGATCCTGTGC	0.468																																					p.G657G													.	FBXW10	82		0			c.T1971C												302	292	295					17																	18673363		2203	4300	6503	SO:0001819	synonymous_variant	10517	exon11			CAGAGGTGATCCT	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1971T>C	17.37:g.18673363T>C			205	0.0048780488	1		178	0.06	10	NM_001267585	0		0	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Splice_Site	SNP	ENST00000395665.4	37	CCDS11199.3																																																																																					0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313531.2		NM_031456		C	18673363	T	C	18673363	2	2	47	1	0	0	0	0	0	0	0	1	5776	1683	59	4		4	FBXW10	17	18673363	Silent	SNP	T	TCGA-2G-AAH4-01A-12D-A42Y-10	13996	18673363	62521847	59	3352											
SUPT6H	6830	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	27026839	27026839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagagggattccggtacCggggccagatcttcccaacc	8	7	11	15	2	1	2	0	0	1	2	4	3	4	3	6	4	2	1	6	4	2	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr17:27026839C>T	ENST00000314616.6	+	33	4772	c.4489C>T	c.(4489-4491)Cgg>Tgg	p.R1497W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R1497W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1497					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)					ATTCCGGTACCGGGGCCAGAT	0.498																																					p.R1497W													.	SUPT6H	165		0			c.C4489T												197	199	198					17																	27026839		2203	4300	6503	SO:0001583	missense	6830	exon33			CGGTACCGGGGCC	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.4489C>T	17.37:g.27026839C>T	ENSP00000319104:p.Arg1497Trp		98	0	0		136	0.04	5	NM_003170	202	0	0	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178870	0.78564	.	.	ENSG00000109111	ENST00000314616	.	.	.	4.62	3.63	0.41609	.	0.117394	0.64402	D	0.000014	T	0.78861	0.4350	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81508	-0.0901	9	0.72032	D	0.01	-14.0015	12.0945	0.53747	0.3122:0.6878:0.0:0.0	.	1497	Q7KZ85	SPT6H_HUMAN	W	1497	.	ENSP00000319104:R1497W	R	+	1	2	SUPT6H	24050966	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.420000	0.52735	1.154000	0.42482	0.462000	0.41574	CGG			0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446422.2		NM_003170		T	27026839	C	T	27026839	3	4	47	1	0	0	0	0	1	0	0	0	15423	643	23	1	4615	1	SUPT6H	17	27026839	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	8353476	27026839	54168371	60	3353											
AOC2	314	broad.mit.edu	37	chr17	40997660	40997660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggccatggggtgttcagCggcctgaggatttttgatgt	5	15	15	6	1	1	2	1	2	0	0	1	3	1	3	2	5	1	1	2	5	0	4	rs149144895	byFrequency	TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr17:40997660C>T	ENST00000253799.3	+	1	1044	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	AOC2_ENST00000452774.2_Silent_p.S339S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	339					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGTGTTCAGCGGCCTGAGGA	0.527													C|||	2	0.000399361	0.0015	0	5008	,	,		20058	0		0	False		,,,				2504	0				p.S339S													.	AOC2	61		0			c.C1017T							C	,	6,4400	11.4+/-27.6	0,6,2197	137	133	134		1017,1017	1.7	0.8	17	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AOC2	NM_001158.3,NM_009590.2	,	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	,	339/730,339/757	40997660	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	314	exon1			GTTCAGCGGCCTG	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1017C>T	17.37:g.40997660C>T			219	0	0		282	0.02	6	NM_009590	3	0	0	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	ENST00000253799.3	37	CCDS11443.1																																																																																					0.527	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452442.1		NM_009590, NM_001158		T	40997660	C	T	40997660	2	4	47	1	0	0	0	0	0	0	0	1	727	767	27	1		1	AOC2	17	40997660	Silent	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	13970821	40997660	40197550	61	3354											
KIF2B	84643	broad.mit.edu	37	chr17	51902397	51902397	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactagctgacctccacgTgaagagcaaggtagagtgaa	14	8	11	8	1	0	5	0	3	0	2	1	5	1	5	2	1	3	3	2	1	6	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr17:51902397T>C	ENST00000268919.4	+	1	2159	c.2003T>C	c.(2002-2004)gTg>gCg	p.V668A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	668					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|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)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GACCTCCACGTGAAGAGCAAG	0.438																																					p.V668A													KIF2B,right_upper_lobe,carcinoma,+1,1	KIF2B	254	1	0			c.T2003C												51	51	51					17																	51902397		2203	4300	6503	SO:0001583	missense	84643	exon1			TCCACGTGAAGAG	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.2003T>C	17.37:g.51902397T>C	ENSP00000268919:p.Val668Ala		84	0	0		83	0.06	5	NM_032559	0		0	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	0.641	-0.813404	0.02798	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73258	-0.73	5.13	1.62	0.23740	.	0.944627	0.08628	N	0.917370	T	0.46386	0.1390	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.30416	-0.9979	10	0.10902	T	0.67	.	2.9376	0.05819	0.5803:0.0:0.2007:0.219	.	668	Q8N4N8	KIF2B_HUMAN	A	668;556	ENSP00000268919:V668A	ENSP00000268919:V668A	V	+	2	0	KIF2B	49257396	0.954000	0.32549	0.056000	0.19401	0.012000	0.07955	1.141000	0.31528	0.445000	0.26639	-0.313000	0.08912	GTG			0.438	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438854.1		NM_032559		C	51902397	T	C	51902397	3	2	47	1	0	0	0	0	1	0	0	0	8313	1696	59	4	2005	4	KIF2B	17	51902397	Missense_Mutation	SNP	T	TCGA-2G-AAH4-01A-12D-A42Y-10	10904737	51902397	29292813	62	3355											
C17orf58	284018	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	65989082	65989082	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaggctgggcgacctaCagcccgggctgtggcaccca	11	4	13	13	2	0	0	0	0	0	0	0	1	0	0	3	4	2	3	3	4	4	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr17:65989082C>G	ENST00000449250.2	-	2	293				C17orf58_ENST00000536693.1_Missense_Mutation_p.V61L|C17orf58_ENST00000334461.7_Missense_Mutation_p.V61L|RP11-855A2.5_ENST00000580729.1_lincRNA			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58											lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGGCGACCTACAGCCCGGGCT	0.488																																					p.V61L													.	.			0			c.G181C												60	61	60					17																	65989082		1888	4108	5996	SO:0001627	intron_variant	284018	exon2			GACCTACAGCCCG	AK026583	CCDS42375.1, CCDS45765.1	17q24.2	2012-10-11			ENSG00000186665	ENSG00000186665			27568	protein-coding gene	gene with protein product						12477932	Standard	NM_181656		Approved		uc002jgi.4	Q2M2W7	OTTHUMG00000179782	ENST00000449250.2:c.103+77G>C	17.37:g.65989082C>G			213	0	0		285	0.29	83	NM_181656	9	0.33	3	A8MQV2	Missense_Mutation	SNP	ENST00000449250.2	37	CCDS45765.1	.	.	.	.	.	.	.	.	.	.	C	6.022	0.372478	0.11409	.	.	ENSG00000186665	ENST00000334461;ENST00000536693	.	.	.	1.95	-3.9	0.04181	.	0.349077	0.27176	N	0.020569	T	0.11153	0.0272	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.25916	-1.0118	8	0.10377	T	0.69	.	0.1435	0.00086	0.3379:0.2397:0.1678:0.2546	.	61	Q2M2W7-2	.	L	61	.	ENSP00000334741:V61L	V	-	1	0	C17orf58	63419544	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.082000	0.03400	-1.660000	0.01486	-0.337000	0.08149	GTA			0.488	C17orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448104.1		NM_181656		G	65989082	C	G	65989082	1	3	47	0	1	0	0	0	0	0	0	0	1868	478	17	5		5	C17orf58	17	65989082	Intron	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	14086685	65989082	15206128	63	3356											
SOCS3	9021	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	76354724	76354724	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagtggctgggcagaCggctgctcgggcacctcgga	6	5	18	12	3	0	1	0	0	0	1	2	3	0	3	2	6	1	5	2	6	0	0	rs371734270		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr17:76354724C>T	ENST00000330871.2	-	2	868	c.453G>A	c.(451-453)ccG>ccA	p.P151P	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	151					branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GCTGGGCAGACGGCTGCTCGG	0.662																																					p.P151P													.	SOCS3	16		0			c.G453A							C		1,4379		0,1,2189	16	20	19		453	-4.3	0.8	17		19	0,8560		0,0,4280	no	coding-synonymous	SOCS3	NM_003955.3		0,1,6469	TT,TC,CC		0.0,0.0228,0.0077		151/226	76354724	1,12939	2190	4280	6470	SO:0001819	synonymous_variant	0	exon2			GGCAGACGGCTGC	AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.453G>A	17.37:g.76354724C>T			90	0.0111111111	1		76	0.25	19	NM_003955	221	0.26	58	O14509	Silent	SNP	ENST00000330871.2	37	CCDS11756.1																																																																																					0.662	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437300.1				T	76354724	C	T	76354724	2	4	47	1	0	0	0	0	0	0	0	1	14938	523	19	1		1	SOCS3	17	76354724	Silent	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	10365642	76354724	4840486	64	3357											
CARD14	79092	broad.mit.edu	37	chr17	78172269	78172269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctggcgttccagggggAtgcattgctggagcagatca	8	9	15	9	1	1	1	1	0	0	1	2	3	2	3	1	4	4	5	1	4	0	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr17:78172269A>G	ENST00000573882.1	+	15	2266	c.1730A>G	c.(1729-1731)gAt>gGt	p.D577G	CARD14_ENST00000392434.2_Missense_Mutation_p.D340G|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.D577G|CARD14_ENST00000570421.1_Missense_Mutation_p.D577G			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	577	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTCCAGGGGGATGCATTGCTG	0.692																																					p.D577G													.	CARD14	98		0			c.A1730G												55	53	54					17																	78172269		2203	4299	6502	SO:0001583	missense	79092	exon13			AGGGGGATGCATT	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1730A>G	17.37:g.78172269A>G	ENSP00000458715:p.Asp577Gly		130	0.0076923077	1		191	0.02	4	NM_024110	2	0	0	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415975	0.42817	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.28666	1.6;1.96	4.86	-1.89	0.07689	PDZ/DHR/GLGF (1);	0.443241	0.23714	N	0.045296	T	0.36496	0.0969	M	0.72479	2.2	0.09310	N	1	D;B	0.57571	0.98;0.025	P;B	0.53146	0.719;0.031	T	0.29027	-1.0025	10	0.72032	D	0.01	-4.2425	5.3238	0.15895	0.5431:0.227:0.23:0.0	.	340;577	E7ETJ2;Q9BXL6	.;CAR14_HUMAN	G	577;340;340	ENSP00000344549:D577G;ENSP00000376229:D340G	ENSP00000308507:D340G	D	+	2	0	CARD14	75786864	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	0.328000	0.19681	-0.770000	0.04614	0.482000	0.46254	GAT			0.692	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437507.1				G	78172269	A	G	78172269	3	3	47	1	0	0	0	0	1	0	0	0	2648	333	12	4	1776	4	CARD14	17	78172269	Missense_Mutation	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10	1817545	78172269	3022941	65	3358											
DSC2	1824	broad.mit.edu	37	chr18	28671012	28671012	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgaaggaaaagtggaaaAggacccaaggagttttctag	15	9	13	4	0	1	1	0	1	1	0	1	5	1	5	1	4	0	2	1	4	7	4			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr18:28671012A>G	ENST00000280904.6	-	4	896	c.453T>C	c.(451-453)ccT>ccC	p.P151P	DSC2_ENST00000251081.6_Silent_p.P151P	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	151	Cadherin 1. {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)			AAAGTGGAAAAGGACCCAAGG	0.403																																					p.P151P													.	DSC2	168		0			c.T453C												116	106	110					18																	28671012		2203	4300	6503	SO:0001819	synonymous_variant	1824	exon4			TGGAAAAGGACCC	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.453T>C	18.37:g.28671012A>G			103	0	0		203	0.02	4	NM_024422	47	0	0		Silent	SNP	ENST00000280904.6	37	CCDS11892.1																																																																																					0.403	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254943.1		NM_004949		G	28671012	A	G	28671012	2	3	47	1	0	0	0	0	0	0	0	1	4771	59	3	4		4	DSC2	18	28671012	Silent	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10		28671012	49406236	66	3359											
GALR1	2587	mdanderson.org	37	chr18	74962637	74962637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttcggcctgatcttcGcgctgggtgtgctgggcaac	3	12	16	10	3	1	1	0	1	1	0	3	1	1	1	1	4	2	4	1	4	1	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr18:74962637G>T	ENST00000299727.3	+	1	133	c.133G>T	c.(133-135)Gcg>Tcg	p.A45S		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	45					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCTGATCTTCGCGCTGGGTGT	0.682																																					p.A45S													.	.			0			c.G133T												32	30	31					18																	74962637		2202	4299	6501	SO:0001583	missense	2587	exon1			ATCTTCGCGCTGG	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.133G>T	18.37:g.74962637G>T	ENSP00000299727:p.Ala45Ser		61	0.0163934426	1		30	0.07	2	NM_001480	1	0	0	Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587588	0.46110	.	.	ENSG00000166573	ENST00000299727	T	0.37584	1.19	4.76	0.881	0.19166	.	0.287868	0.38492	N	0.001674	T	0.30665	0.0772	L	0.55481	1.735	0.33215	D	0.553915	B	0.10296	0.003	B	0.10450	0.005	T	0.30794	-0.9966	10	0.56958	D	0.05	.	9.1693	0.37072	0.3873:0.0:0.6127:0.0	.	45	P47211	GALR1_HUMAN	S	45	ENSP00000299727:A45S	ENSP00000299727:A45S	A	+	1	0	GALR1	73091625	0.001000	0.12720	0.998000	0.56505	0.998000	0.95712	-0.347000	0.07750	0.105000	0.17753	0.585000	0.79938	GCG			0.682	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256362.1				T	74962637	G	T	74962637	3	4	47	1	0	0	0	0	1	0	0	0	6241	1087	38	1	135	1	GALR1	18	74962637	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	46291625	74962637	3114611	67	3360											
ADAMTSL5	339366	mdanderson.org	37	chr19	1506169	1506169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtagtcccggtggggtgCcagcatcgggcaggggcagt	6	6	19	10	2	0	0	0	0	0	0	2	0	1	0	2	7	2	4	2	7	1	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr19:1506169C>T	ENST00000413997.2	-	12	1290	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.A421T|ADAMTSL5_ENST00000395467.2_3'UTR|ADAMTSL5_ENST00000590562.1_5'UTR			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	431	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.					extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		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)		CGGTGGGGTGCCAGCATCGGG	0.697																																					p.A421T													.	.			0			c.G1261A												28	31	30					19																	1506169		2201	4299	6500	SO:0001583	missense	339366	exon12			GGGGTGCCAGCAT	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"thrombospondin, type I, domain containing 6"	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.1291G>A	19.37:g.1506169C>T	ENSP00000399364:p.Ala431Thr		56	0	0		59	0.07	4	NM_213604	11	0	0	B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37		.	.	.	.	.	.	.	.	.	.	C	4.574	0.106590	0.08780	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.28069	1.63;1.63	3.61	2.56	0.30785	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.748973	0.12247	N	0.486003	T	0.17534	0.0421	N	0.22421	0.69	0.58432	D	0.999998	B;B	0.22146	0.065;0.065	B;B	0.21917	0.037;0.037	T	0.07829	-1.0752	10	0.20046	T	0.44	.	5.2463	0.15498	0.0:0.6716:0.21:0.1184	.	431;421	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	T	431;421	ENSP00000399364:A431T;ENSP00000327608:A421T	ENSP00000327608:A421T	A	-	1	0	ADAMTSL5	1457169	0.462000	0.25791	0.710000	0.30468	0.225000	0.24961	0.255000	0.18333	0.863000	0.35553	-0.391000	0.06502	GCA			0.697	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding				XM_294919		T	1506169	C	T	1506169	3	4	47	1	0	0	0	0	1	0	0	0	278	739	26	2	158	2	ADAMTSL5	19	1506169	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10		1506169	57622814	68	3361											
MAP1S	55201	mdanderson.org	37	chr19	17837039	17837039	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagctggtgcggcacctGgaccgcgtggatgccgtgct	5	8	17	11	4	0	0	0	0	0	0	0	3	0	3	3	5	4	3	3	5	1	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr19:17837039G>T	ENST00000324096.4	+	5	997	c.846G>T	c.(844-846)ctG>ctT	p.L282L	MAP1S_ENST00000544059.2_Silent_p.L256L|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	282	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCGGCACCTGGACCGCGTGG	0.672																																					p.L282L													.	.			0			c.G846T												29	24	26					19																	17837039		2202	4299	6501	SO:0001819	synonymous_variant	55201	exon5			GCACCTGGACCGC	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.846G>T	19.37:g.17837039G>T			52	0	0		57	0.05	3	NM_018174	100	0	0	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	CCDS32954.1																																																																																					0.672	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466027.1		NM_018174		T	17837039	G	T	17837039	2	4	47	1	0	0	0	0	0	0	0	1	9250	1335	47	3		3	MAP1S	19	17837039	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	16330870	17837039	41291944	69	3362											
IRGQ	126298	mdanderson.org	37	chr19	44097051	44097051	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccggatcctcgccctcGccgtctgtgcgcacgcagac	5	7	10	19	6	1	1	0	0	1	1	5	2	3	2	4	1	1	2	4	1	0	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr19:44097051G>T	ENST00000602269.1	-	2	1184	c.999C>A	c.(997-999)ggC>ggA	p.G333G	L34079.2_ENST00000594374.1_Silent_p.G46G|IRGQ_ENST00000601520.1_5'UTR|IRGQ_ENST00000422989.1_Silent_p.G333G			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	333	IRG-type G.							p.G333G(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCTCGCCCTCGCCGTCTGTGC	0.617																																					p.G333G													IRGQ,colon,carcinoma,0,1	IRGQ	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C999A												142	138	139					19																	44097051		2203	4300	6503	SO:0001819	synonymous_variant	126298	exon3			GCCCTCGCCGTCT	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.999C>A	19.37:g.44097051G>T			60	0	0		39	0.08	3	NM_001007561	6	0	0	B2RNP3	Silent	SNP	ENST00000602269.1	37	CCDS33040.1																																																																																					0.617	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463205.1		NM_001007561		T	44097051	G	T	44097051	2	4	47	1	0	0	0	0	0	0	0	1	7854	1074	38	1		1	IRGQ	19	44097051	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	26260012	44097051	15031932	70	3363											
RPL18	6141	mdanderson.org	37	chr19	49118703	49118703	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccttggagcggacgtaggGtctgtggggagaggagggag	7	6	22	6	2	1	1	0	0	1	1	1	6	1	5	1	7	1	1	1	7	1	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr19:49118703G>T	ENST00000549920.1	-	7	885	c.493C>A	c.(493-495)Ccc>Acc	p.P165T	FAM83E_ENST00000595110.1_5'Flank|FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000552588.1_Splice_Site_p.P136T|RPL18_ENST00000549273.1_3'UTR|RPL18_ENST00000550645.1_Splice_Site_p.P110T	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	165					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)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		CGGACGTAGGGTCTGTGGGGA	0.587																																					p.P165T													.	.			0			c.C493A												62	74	70					19																	49118703		2203	4299	6502	SO:0001630	splice_region_variant	6141	exon7			CGTAGGGTCTGTG	L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"L ribosomal proteins"	10310	protein-coding gene	gene with protein product	"60S ribosomal protein L18"	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.492-1C>A	19.37:g.49118703G>T			86	0	0		51	0.06	3	NM_000979	6036	0	3	F8VWC5|Q8WTZ6	Missense_Mutation	SNP	ENST00000549920.1	37	CCDS12726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.102820|5.102820	0.94245|0.94245	.|.	.|.	ENSG00000063177|ENSG00000063177	ENST00000549920;ENST00000550645;ENST00000552588;ENST00000550973|ENST00000084795;ENST00000546623	.|.	.|.	.|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85474|0.85474	0.5705|0.5705	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	D|.	0.54772|.	0.968|.	P|.	0.56612|.	0.802|.	D|D	0.88902|0.88902	0.3353|0.3353	9|5	0.72032|.	D|.	0.01|.	-30.392|-30.392	14.7247|14.7247	0.69336|0.69336	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	165|.	Q07020|.	RL18_HUMAN|.	T|N	165;110;136;113|166;143	.|.	ENSP00000447001:P165T|.	P|T	-|-	1|2	0|0	RPL18|RPL18	53810515|53810515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	8.778000|8.778000	0.91785|0.91785	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	CCC|ACC			0.587	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405732.2		NM_000979	Missense_Mutation	T	49118703	G	T	49118703	5	4	47	1	0	0	0	0	0	0	1	0	13587	1275	44	3	77	3	RPL18	19	49118703	Splice_Site	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	5021652	49118703	10010280	71	3364											
DBP	1628	mdanderson.org	37	chr19	49136911	49136911	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtgtcccgagaggtcagGccttggggaaacagcacgtg	8	7	17	9	2	1	1	1	0	0	1	2	3	2	2	2	5	2	1	2	5	1	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr19:49136911G>T	ENST00000222122.5	-	3	995	c.552C>A	c.(550-552)ggC>ggA	p.G184G	DBP_ENST00000599385.1_5'UTR|DBP_ENST00000601104.1_Splice_Site_p.G184G|DBP_ENST00000593500.1_5'UTR	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	184					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)		GAGAGGTCAGGCCTTGGGGAA	0.527																																					p.G184G													.	.			0			c.C552A												101	93	96					19																	49136911		2203	4300	6503	SO:0001630	splice_region_variant	1628	exon3			GGTCAGGCCTTGG	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.551-1C>A	19.37:g.49136911G>T			31	0	0		46	0.07	3	NM_001352	21	0	0	A2I2P4	Silent	SNP	ENST00000222122.5	37	CCDS12728.1																																																																																					0.527	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466167.1		NM_001352	Silent	T	49136911	G	T	49136911	5	4	47	1	0	0	0	0	0	0	1	0	4258	1217	42	2	433	2	DBP	19	49136911	Splice_Site	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	18208	49136911	9992072	72	3365											
NLRP12	91662	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	54304502	54304502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtctggagcttgcacGtgggatgcctgaggccctca	6	8	16	11	1	2	1	1	1	1	0	2	3	2	3	2	4	3	3	2	4	0	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr19:54304502G>T	ENST00000324134.6	-	7	2903	c.2735C>A	c.(2734-2736)aCg>aAg	p.T912K	NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Missense_Mutation_p.T913K|NLRP12_ENST00000345770.5_Missense_Mutation_p.T913K|NLRP12_ENST00000391775.3_Missense_Mutation_p.T912K|NLRP12_ENST00000535162.1_Missense_Mutation_p.T912K|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000354278.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	912					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.T912M(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGCTTGCACGTGGGATGCCT	0.627																																					p.L912H													NLRP12,caecum,carcinoma,0,1	NLRP12	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.T2735A												66	62	63					19																	54304502		2203	4300	6503	SO:0001583	missense	91662	exon7			TTGCACGTGGGAT	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2735C>A	19.37:g.54304502G>T	ENSP00000319377:p.Thr912Lys		79	0	0		50	0.08	4	NM_144687	2	0	0	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	5.082	0.200753	0.09652	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.45	-4.61	0.03380	.	0.885835	0.09284	N	0.823342	T	0.24470	0.0593	N	0.13235	0.315	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.29058	-1.0024	10	0.15066	T	0.55	.	9.5993	0.39593	0.095:0.066:0.6525:0.1865	.	195;912;912;912	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	912;912;195;912;913;913	ENSP00000319377:T912K;ENSP00000438030:T912K;ENSP00000375655:T912K;ENSP00000375653:T913K	ENSP00000319377:T912K	T	-	2	0	NLRP12	58996314	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.248000	0.08854	-1.288000	0.02378	-1.150000	0.01838	ACG			0.627	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000134340.1		NM_144687		T	54304502	G	T	54304502	3	4	47	1	0	0	0	0	1	0	0	0	10491	1145	40	1	466	1	NLRP12	19	54304502	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	5167591	54304502	4824481	73	3366											
TMEM86B	255043	mdanderson.org	37	chr19	55739615	55739615	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccccacagccgagcacacaAgggctccctggaggagctgg	9	3	13	16	1	0	0	0	0	0	0	1	3	1	2	4	4	3	3	4	4	1	0			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr19:55739615A>T	ENST00000327042.4	-	2	764	c.242T>A	c.(241-243)cTt>cAt	p.L81H	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	81					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CGAGCACACAAGGGCTCCCTG	0.652																																					p.L81H													.	.			0			c.T242A												32	33	32					19																	55739615		2202	4300	6502	SO:0001583	missense	255043	exon2			CACACAAGGGCTC	BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.242T>A	19.37:g.55739615A>T	ENSP00000321038:p.Leu81His		55	0	0		51	0.06	3	NM_173804	17	0	0		Missense_Mutation	SNP	ENST00000327042.4	37	CCDS12920.1	.	.	.	.	.	.	.	.	.	.	.	16.44	3.123004	0.56613	.	.	ENSG00000180089	ENST00000327042	T	0.50548	0.74	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000006	T	0.78387	0.4275	H	0.95850	3.73	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.85532	0.1210	10	0.87932	D	0	.	14.7291	0.69368	1.0:0.0:0.0:0.0	.	81	Q8N661	TM86B_HUMAN	H	81	ENSP00000321038:L81H	ENSP00000321038:L81H	L	-	2	0	TMEM86B	60431427	1.000000	0.71417	0.456000	0.27044	0.058000	0.15608	6.344000	0.72991	2.198000	0.70561	0.533000	0.62120	CTT			0.652	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452659.1		NM_173804		T	55739615	A	T	55739615	3	4	47	1	0	0	0	0	1	0	0	0	16232	72	3	5	446	5	TMEM86B	19	55739615	Missense_Mutation	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10	1435113	55739615	3389368	74	3367											
ADAM33	80332	mdanderson.org	37	chr20	3653452	3653452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccgggagtccggggtcCggggcattggagaggcaagc	7	4	20	10	3	0	1	0	0	0	1	2	3	2	2	3	8	1	3	3	8	1	1	rs551532679		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr20:3653452C>T	ENST00000356518.2	-	12	1468	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	ADAM33_ENST00000379861.4_Silent_p.P409P|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Silent_p.P409P	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	409	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						GTCCGGGGTCCGGGGCATTGG	0.731																																					p.P409P													.	.			0			c.G1227A												5	8	7					20																	3653452		2021	4056	6077	SO:0001819	synonymous_variant	80332	exon12			GGGGTCCGGGGCA	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.1227G>A	20.37:g.3653452C>T			25	0	0		18	0.11	2	NM_025220	4	0	0	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	CCDS13058.1																																																																																					0.731	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000077763.2		NM_025220		T	3653452	C	T	3653452	2	4	47	1	0	0	0	0	0	0	0	1	250	639	23	1		1	ADAM33	20	3653452	Silent	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10		3653452	59372068	75	3368											
APCDD1L	164284	mdanderson.org	37	chr20	57045759	57045759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagtggggttcccagcGcaggcagctgcccccggcct	4	6	15	16	2	0	0	0	0	0	0	1	0	1	0	4	5	3	5	4	5	0	1	rs147147447		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr20:57045759G>A	ENST00000371149.3	-	2	324	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	APCDD1L_ENST00000439429.1_Missense_Mutation_p.R43C	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	32						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGTTCCCAGCGCAGGCAGCTG	0.657													G|||	1	0.000199681	0	0	5008	,	,		13930	0.001		0	False		,,,				2504	0				p.R32C													.	.			0			c.C94T							G	CYS/ARG	4,4290		0,4,2143	28	24	25		94	4.9	0	20	dbSNP_134	25	0,8396		0,0,4198	yes	missense	APCDD1L	NM_153360.1	180	0,4,6341	AA,AG,GG		0.0,0.0932,0.0315	possibly-damaging	32/502	57045759	4,12686	2147	4198	6345	SO:0001583	missense	164284	exon2			CCCAGCGCAGGCA	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.94C>T	20.37:g.57045759G>A	ENSP00000360191:p.Arg32Cys		40	0	0		44	0.07	3	NM_153360	1	0	0		Missense_Mutation	SNP	ENST00000371149.3	37	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560634	0.65538	9.32E-4	0.0	ENSG00000198768	ENST00000371149;ENST00000439429;ENST00000425773	T;T;T	0.36157	2.41;2.41;1.27	4.88	4.88	0.63580	.	0.714038	0.13697	N	0.369081	T	0.34454	0.0898	L	0.36672	1.1	0.09310	N	1	D;D	0.60160	0.986;0.987	P;P	0.47015	0.534;0.528	T	0.13710	-1.0499	10	0.40728	T	0.16	-12.5397	11.851	0.52412	0.0815:0.0:0.9185:0.0	.	43;32	F5H6V6;Q8NCL9	.;APCDL_HUMAN	C	32;43;43	ENSP00000360191:R32C;ENSP00000413261:R43C;ENSP00000396856:R43C	ENSP00000360191:R32C	R	-	1	0	APCDD1L	56479165	0.993000	0.37304	0.008000	0.14137	0.077000	0.17291	3.652000	0.54439	2.412000	0.81896	0.655000	0.94253	CGC	0		0.657	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000079881.2		NM_153360		A	57045759	G	A	57045759	3	1	47	1	0	0	0	0	1	0	0	0	766	1087	38	1	1423	1	APCDD1L	20	57045759	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	53392307	57045759	5979761	76	3369											
ZNF512B	57473	mdanderson.org	37	chr20	62594730	62594730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgtcccatctgcttcaGcaccttgcgcagcctctcgc	5	9	8	19	3	3	0	1	0	2	0	5	0	4	0	4	0	5	3	4	0	0	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr20:62594730G>A	ENST00000450537.1	-	11	1822	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L	ZNF512B_ENST00000369888.1_Silent_p.L588L|ZNF512B_ENST00000217130.3_Silent_p.L588L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	588					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)					ATCTGCTTCAGCACCTTGCGC	0.726																																					p.L588L													.	.			0			c.C1762T												8	8	8					20																	62594730		2148	4200	6348	SO:0001819	synonymous_variant	57473	exon11			GCTTCAGCACCTT	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.1762C>T	20.37:g.62594730G>A			18	0	0		24	0.08	2	NM_020713	36	0	0	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																					0.726	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080246.1		NM_020713		A	62594730	G	A	62594730	2	1	47	1	0	0	0	0	0	0	0	1	17980	962	34	2		2	ZNF512B	20	62594730	Silent	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	5548971	62594730	430790	77	3370											
RIBC2	26150	bcgsc.ca	37	chr22	45813494	45813494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccagctgctgaaatgaGgcaaaatgacaaaatcatgt	15	10	8	8	0	2	3	1	3	1	0	3	3	3	3	1	1	2	3	1	1	5	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr22:45813494G>T	ENST00000342894.3	+	3	419	c.5G>T	c.(4-6)aGg>aTg	p.R2M	RIBC2_ENST00000538017.1_Missense_Mutation_p.R70M			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	2						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCTGAAATGAGGCAAAATGAC	0.333																																					.													.	RIBC2	25		0			.												44	44	44					22																	45813494		2203	4300	6503	SO:0001583	missense	26150	.			AAATGAGGCAAAA	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.5G>T	22.37:g.45813494G>T	ENSP00000342529:p.Arg2Met		185	0	0		171	0.04	6	.	5	0	0	Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37		.	.	.	.	.	.	.	.	.	.	G	15.22	2.769173	0.49680	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.22945	1.93;1.93	4.85	2.54	0.30619	.	0.435314	0.23718	N	0.045243	T	0.27798	0.0684	.	.	.	0.26774	N	0.969734	P	0.49696	0.927	P	0.49140	0.601	T	0.07888	-1.0749	9	0.41790	T	0.15	-7.6259	7.4039	0.26979	0.5268:0.0:0.4732:0.0	.	2	Q9H4K1	RIBC2_HUMAN	M	2;70	ENSP00000342529:R2M;ENSP00000444196:R70M	ENSP00000342529:R2M	R	+	2	0	RIBC2	44192158	0.860000	0.29831	0.988000	0.46212	0.901000	0.52897	0.401000	0.20948	0.183000	0.20059	0.563000	0.77884	AGG			0.333	RIBC2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000322250.1		NM_015653		T	45813494	G	T	45813494	3	4	47	1	0	0	0	0	1	0	0	0	13376	1000	35	3	218	3	RIBC2	22	45813494	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		45813494	5491072	78	3371											
PKDREJ	10343	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr22	46658471	46658471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgatggcgcgcgcggccGggcagtccagctgcaccgag	5	3	19	14	7	0	0	0	0	0	0	1	2	1	0	3	4	2	3	3	4	0	0	rs149432283		TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr22:46658471G>T	ENST00000253255.5	-	1	748	c.749C>A	c.(748-750)cCg>cAg	p.P250Q		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	250	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)		GCGCGCGGCCGGGCAGTCCAG	0.706																																					p.P250Q													.	.			0			c.C749A												24	28	26					22																	46658471		2201	4296	6497	SO:0001583	missense	10343	exon1			GCGGCCGGGCAGT	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.749C>A	22.37:g.46658471G>T	ENSP00000253255:p.Pro250Gln		62	0	0		67	0.06	4	NM_006071	0		0	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815787	0.50527	.	.	ENSG00000130943	ENST00000253255	T	0.68903	-0.36	3.75	-1.66	0.08265	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.424940	0.04586	N	0.395917	T	0.71143	0.3305	L	0.58810	1.83	0.09310	N	1	D	0.64830	0.994	D	0.63192	0.912	T	0.58702	-0.7590	10	0.14656	T	0.56	-5.7628	4.6188	0.12440	0.4314:0.1583:0.4102:0.0	.	250	Q9NTG1	PKDRE_HUMAN	Q	250	ENSP00000253255:P250Q	ENSP00000253255:P250Q	P	-	2	0	PKDREJ	45037135	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.317000	0.08060	-0.318000	0.08665	-0.438000	0.05819	CCG			0.706	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318466.1		NM_006071		T	46658471	G	T	46658471	3	4	47	1	0	0	0	0	1	0	0	0	11987	1116	39	1	6016	1	PKDREJ	22	46658471	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	844977	46658471	4646095	79	3372											
SHANK3	85358	ucsc.edu;bcgsc.ca	37	chr22	51117453	51117453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcaccctcagaccctgCtggacctgggggcttcacct	5	9	10	17	0	3	1	3	0	0	1	3	2	3	2	4	3	2	3	4	3	0	1			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chr22:51117453C>T	ENST00000414786.2	+	6	834	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	SHANK3_ENST00000262795.3_Silent_p.L203L|SHANK3_ENST00000445220.2_Silent_p.L203L			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	203					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCAGACCCTGCTGGACCTGGG	0.682																																					p.L203L													.	SHANK3	96		0			c.C607T												10	12	12					22																	51117453		2046	4166	6212	SO:0001819	synonymous_variant	85358	exon6			ACCCTGCTGGACC	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.607C>T	22.37:g.51117453C>T			35	0	0		29	0.14	4	NM_033517	15	0	0	D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37																																																																																						0.682	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000316674.2		NM_001080420		T	51117453	C	T	51117453	2	4	47	1	0	0	0	0	0	0	0	1	14289	796	28	2		2	SHANK3	22	51117453	Silent	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	4458982	51117453	187113	80	3373											
CTPS2	56474	broad.mit.edu	37	chrX	16711311	16711311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcgcggacgctgttttGggtgggtttggttttttgtt	2	18	16	5	3	0	0	0	0	0	0	0	1	0	1	0	4	1	5	0	4	0	7			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chrX:16711311G>T	ENST00000443824.1	-	6	1335	c.592C>A	c.(592-594)Caa>Aaa	p.Q198K	CTPS2_ENST00000359276.4_Missense_Mutation_p.Q198K|CTPS2_ENST00000380241.3_Missense_Mutation_p.Q198K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	198					'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)					ACGCTGTTTTGGGTGGGTTTG	0.527																																					p.Q198K													.	CTPS2	49		0			c.C592A												87	76	80					X																	16711311		2203	4300	6503	SO:0001583	missense	56474	exon6			TGTTTTGGGTGGG	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.592C>A	X.37:g.16711311G>T	ENSP00000401264:p.Gln198Lys		132	0	0		205	0.02	4	NM_001144002	68	0	0	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545141	0.86022	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.58940	0.3;0.3;0.3	4.73	4.73	0.59995	CTP synthase, N-terminal (1);	0.000000	0.64402	D	0.000009	D	0.86372	0.5917	H	0.99156	4.45	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.92785	0.6243	10	0.87932	D	0	-7.8728	17.2578	0.87062	0.0:0.0:1.0:0.0	.	198	Q9NRF8	PYRG2_HUMAN	K	198	ENSP00000401264:Q198K;ENSP00000369590:Q198K;ENSP00000352222:Q198K	ENSP00000352222:Q198K	Q	-	1	0	CTPS2	16621232	1.000000	0.71417	0.754000	0.31244	0.774000	0.43823	9.444000	0.97578	2.085000	0.62840	0.600000	0.82982	CAA			0.527	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055906.1		NM_019857		T	16711311	G	T	16711311	3	4	47	1	0	0	0	0	1	0	0	0	4025	1357	47	3	1220	3	CTPS2	23	16711311	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10		16711311	138559249	81	3374											
CCNB3	85417	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	50053935	50053935	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagatgtctaccatcaaTgaggcagtcctcttcgaaga	12	11	9	9	1	3	4	1	2	2	2	5	5	4	4	2	1	1	1	2	1	4	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chrX:50053935T>C	ENST00000376042.1	+	6	3064	c.2766T>C	c.(2764-2766)aaT>aaC	p.N922N	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.N922N			Q8WWL7	CCNB3_HUMAN	cyclin B3	922					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTACCATCAATGAGGCAGTCC	0.463																																					p.N922N													.	.			0			c.T2766C												85	77	80					X																	50053935		2203	4300	6503	SO:0001819	synonymous_variant	85417	exon5			CATCAATGAGGCA	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2766T>C	X.37:g.50053935T>C			162	0	0		214	0.05	10	NM_033031	1	0	0	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	CCDS14331.1																																																																																					0.463	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056558.1				C	50053935	T	C	50053935	2	2	47	1	0	0	0	0	0	0	0	1	2916	1461	51	4		4	CCNB3	23	50053935	Silent	SNP	T	TCGA-2G-AAH4-01A-12D-A42Y-10	33342624	50053935	105216625	82	3375											
CYLC1	1538	broad.mit.edu	37	chrX	83129489	83129489	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagactacattcaatgaaaaAggggaaaaagcaagtacagg	21	5	10	5	0	1	2	1	1	0	1	1	3	1	3	0	3	3	2	0	3	9	3			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chrX:83129489A>G	ENST00000329312.4	+	4	1810	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	591					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAATGAAAAAGGGGAAAAAG	0.418																																					p.K591K													.	CYLC1	272		0			c.A1773G												67	59	61					X																	83129489		2202	4299	6501	SO:0001819	synonymous_variant	1538	exon4			TGAAAAAGGGGAA	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1773A>G	X.37:g.83129489A>G			232	0	0		289	0.01	4	NM_021118	0		0	A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																					0.418	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057371.1		NM_021118		G	83129489	A	G	83129489	2	3	47	1	0	0	0	0	0	0	0	1	4143	69	3	4		4	CYLC1	23	83129489	Silent	SNP	A	TCGA-2G-AAH4-01A-12D-A42Y-10	33075554	83129489	72141071	83	3376											
RNF128	79589	broad.mit.edu	37	chrX	105937558	105937558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaaaaaattcaaacagCgggcagaagaaatgctgatg	18	7	10	6	1	2	4	2	1	0	3	2	4	2	4	0	1	3	2	0	1	6	2			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chrX:105937558C>T	ENST00000324342.3	+	1	491	c.326C>T	c.(325-327)gCg>gTg	p.A109V		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	135	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						ATTCAAACAGCGGGCAGAAGA	0.388																																					p.A109V													.	RNF128	74		0			c.C326T												64	61	62					X																	105937558		2203	4299	6502	SO:0001583	missense	79589	exon1			AAACAGCGGGCAG	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	ENST00000324342.3:c.326C>T	X.37:g.105937558C>T	ENSP00000316127:p.Ala109Val		252	0	0		318	0.01	4	NM_024539	4	0	0	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191287	0.78902	.	.	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.35789	1.29;3.14	5.94	5.94	0.96194	.	.	.	.	.	T	0.67785	0.2930	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73219	-0.4052	9	0.62326	D	0.03	.	17.6899	0.88267	0.0:1.0:0.0:0.0	.	109	Q8TEB7-2	.	V	82;109	ENSP00000412610:A82V;ENSP00000316127:A109V	ENSP00000316127:A109V	A	+	2	0	RNF128	105824214	1.000000	0.71417	0.648000	0.29521	0.985000	0.73830	6.245000	0.72398	2.499000	0.84300	0.594000	0.82650	GCG			0.388	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057805.1		NM_024539		T	105937558	C	T	105937558	3	4	47	1	0	0	0	0	1	0	0	0	13459	768	27	1	328	1	RNF128	23	105937558	Missense_Mutation	SNP	C	TCGA-2G-AAH4-01A-12D-A42Y-10	22808069	105937558	49333002	84	3377											
NKRF	55922	broad.mit.edu	37	chrX	118724147	118724147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttgacagatggataagtgGgctgtgttttttgaagaatt	10	17	12	2	0	0	4	0	2	0	2	0	5	0	5	0	2	0	2	0	2	3	7			TCGA-2G-AAH4-01A-12D-A42Y-10	TCGA-2G-AAH4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a76ac28a-7e0c-4ca4-ad0e-109bf04deac8	09fe59f5-a2c3-4148-aac8-4b370b8cfae1	g.chrX:118724147G>T	ENST00000371527.1	-	2	1893	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.P414H|NKRF_ENST00000542113.1_Missense_Mutation_p.P429H	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	414					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						TGGATAAGTGGGCTGTGTTTT	0.388																																					p.P429H													.	NKRF	121		0			c.C1286A												148	136	140					X																	118724147		2203	4300	6503	SO:0001583	missense	55922	exon4			TAAGTGGGCTGTG	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.1241C>A	X.37:g.118724147G>T	ENSP00000360582:p.Pro414His		52	0.0384615385	2		89	0.03	3	NM_001173487	36	0	0	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293297	0.23564	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.77358	-1.09;-1.09;-1.09	5.48	5.48	0.80851	.	0.222275	0.46758	D	0.000268	T	0.73179	0.3554	L	0.31476	0.935	0.09310	N	1	D	0.59357	0.985	P	0.49999	0.628	T	0.69091	-0.5237	10	0.87932	D	0	-9.0408	10.8886	0.46981	0.0875:0.0:0.9125:0.0	.	414	O15226	NKRF_HUMAN	H	414;414;429	ENSP00000360582:P414H;ENSP00000304803:P414H;ENSP00000442308:P429H	ENSP00000304803:P414H	P	-	2	0	NKRF	118608175	1.000000	0.71417	0.999000	0.59377	0.798000	0.45092	6.749000	0.74883	2.294000	0.77228	0.594000	0.82650	CCC			0.388	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058044.1		NM_017544		T	118724147	G	T	118724147	3	4	47	1	0	0	0	0	1	0	0	0	10464	1232	43	3	835	3	NKRF	23	118724147	Missense_Mutation	SNP	G	TCGA-2G-AAH4-01A-12D-A42Y-10	12786589	118724147	36546413	85	3378											
OPRD1	4985	mdanderson.org	37	chr1	29189700	29189700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccctgcggccgcccagacCccagcagcttcagccgcgcc	6	3	11	21	4	1	1	1	0	0	1	1	1	1	1	7	1	5	2	7	1	0	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr1:29189700C>T	ENST00000234961.2	+	3	1266	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	342					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCGCCCAGACCCCAGCAGCTT	0.711																																					p.P342S													.	.			0			c.C1024T												9	9	9					1																	29189700		2186	4283	6469	SO:0001583	missense	4985	exon3			CCAGACCCCAGCA	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.1024C>T	1.37:g.29189700C>T	ENSP00000234961:p.Pro342Ser		33	0	0		23	0.09	2	NM_000911	0		0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202294	0.22121	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.36157	1.27	4.06	4.06	0.47325	.	0.506099	0.19945	N	0.102553	T	0.23171	0.0560	N	0.22421	0.69	0.38965	D	0.958636	B	0.14438	0.01	B	0.13407	0.009	T	0.06607	-1.0817	10	0.09590	T	0.72	.	13.7884	0.63123	0.0:1.0:0.0:0.0	.	342	P41143	OPRD_HUMAN	S	342;294	ENSP00000234961:P342S	ENSP00000234961:P342S	P	+	1	0	OPRD1	29062287	1.000000	0.71417	0.387000	0.26183	0.796000	0.44982	5.838000	0.69388	2.097000	0.63578	0.462000	0.41574	CCC			0.711	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010330.1		NM_000911		T	29189700	C	T	29189700	3	4	48	1	0	0	0	0	1	0	0	0	10901	623	22	3	1034	3	OPRD1	1	29189700	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10		29189700	220060921	1	3379											
CELF3	11189	ucsc.edu;bcgsc.ca	37	chr1	151678746	151678746	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgttgaggtggtggtggggg	1	13	20	7	0	0	1	0	1	0	0	0	1	0	1	0	5	7	8	0	5	0	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr1:151678746C>T	ENST00000290583.4	-	10	1873	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	CELF3_ENST00000392706.3_Silent_p.Q155Q|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Silent_p.Q310Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	360	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgctgttgAGGTG	0.652																																					p.Q360Q													.	CELF3	49		0			c.G1080A												19	21	20					1																	151678746		2199	4294	6493	SO:0001819	synonymous_variant	11189	exon10			CTGCTGCTGTTGA	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1080G>A	1.37:g.151678746C>T			29	0	0		40	0.1	4	NM_007185	0		0	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	8.446	0.851874	0.17034	.	.	ENSG00000159409	ENST00000420342	.	.	.	4.18	3.18	0.36537	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-1.649	8.7523	0.34622	0.0:0.876:0.0:0.124	.	.	.	.	N	361	.	.	S	-	2	0	CELF3	149945370	.	.	1.000000	0.80357	0.943000	0.58893	.	.	2.183000	0.69458	0.655000	0.94253	AGC			0.652	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000036663.2		NM_007185		T	151678746	C	T	151678746	2	4	48	1	0	0	0	0	0	0	0	1	3219	796	28	2		2	CELF3	1	151678746	Silent	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	122489046	151678746	97571875	2	3380											
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152280480	152280480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggagctctctgcagaGtgcccatgaccggctctgtc	5	11	12	13	1	3	2	0	1	3	1	5	3	3	3	2	2	3	3	2	2	0	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr1:152280480G>T	ENST00000368799.1	-	3	6917	c.6882C>A	c.(6880-6882)caC>caA	p.H2294Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2294	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)			TCTCTGCAGAGTGCCCATGAC	0.552									Ichthyosis																												p.H2294Q													.	.			0			c.C6882A												288	299	295					1																	152280480		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TGCAGAGTGCCCA	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.6882C>A	1.37:g.152280480G>T	ENSP00000357789:p.His2294Gln		242	0	0		336	0.24	82	NM_002016	0		0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	2.971	-0.212514	0.06140	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.00949	5.51	3.07	-6.14	0.02111	.	.	.	.	.	T	0.00210	0.0006	L	0.28504	0.86	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.40440	-0.9563	9	0.25751	T	0.34	.	4.4718	0.11715	0.0961:0.539:0.1369:0.228	.	2294	P20930	FILA_HUMAN	Q	2294;204	ENSP00000357789:H2294Q	ENSP00000271820:H204Q	H	-	3	2	FLG	150547104	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-2.842000	0.00737	-2.926000	0.00302	0.194000	0.17425	CAC			0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033742.1		NM_002016		T	152280480	G	T	152280480	3	4	48	1	0	0	0	0	1	0	0	0	5935	1020	36	3	5307	3	FLG	1	152280480	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	601734	152280480	96970141	3	3381											
OR6K6	128371	broad.mit.edu	37	chr1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttgttatccttgctcccTttttcaaccccatcatctat	6	19	2	14	0	3	0	2	0	1	0	5	0	5	0	4	0	2	2	4	0	3	7			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	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																																					p.F311L													.	OR6K6	81		0			c.T931C												149	140	143					1																	158725536		2203	4300	6503	SO:0001583	missense	128371	exon1			GCTCCCTTTTTCA	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		212	0	0		208	0.03	6	NM_001005184	0		0	B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	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		C	158725536	T	C	158725536	3	2	48	1	0	0	0	0	1	0	0	0	11221	1609	56	4	933	4	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10	6445056	158725536	90525085	4	3382											
EPT1	85465	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	26587175	26587175	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttcttaacagtacagTgctgtggataccaatccact	11	14	6	10	0	2	0	1	0	1	0	3	1	3	1	2	1	4	2	2	1	4	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr2:26587175T>G	ENST00000260585.7	+	2	182	c.63T>G	c.(61-63)agT>agG	p.S21R		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	21					glycerophospholipid biosynthetic process (GO:0046474)|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)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										AACAGTACAGTGCTGTGGATA	0.328																																					.													.	.			0			.												100	92	94					2																	26587175		1837	4072	5909	SO:0001583	missense	85465	.			GTACAGTGCTGTG		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"selenoprotein I"	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.63T>G	2.37:g.26587175T>G	ENSP00000260585:p.Ser21Arg		55	0	0		58	0.38	22	.	22	0.36	8	Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.707903	0.48412	.	.	ENSG00000138018	ENST00000260585;ENST00000447170	T	0.52526	0.66	5.66	1.71	0.24356	.	0.038576	0.85682	D	0.000000	T	0.42063	0.1186	M	0.73319	2.225	0.58432	D	0.999996	B	0.18310	0.027	B	0.17433	0.018	T	0.34079	-0.9843	10	0.56958	D	0.05	-18.2302	5.6828	0.17786	0.0:0.2731:0.1493:0.5776	.	21	Q9C0D9	EPT1_HUMAN	R	21	ENSP00000260585:S21R	ENSP00000260585:S21R	S	+	3	2	EPT1	26440679	0.997000	0.39634	1.000000	0.80357	0.973000	0.67179	0.352000	0.20113	0.434000	0.26340	0.482000	0.46254	AGT			0.328	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding		OTTHUMT00000324484.3		NM_033505.2		G	26587175	T	G	26587175	3	3	48	1	0	0	0	0	1	0	0	0	5206	1693	59	4	69	4	EPT1	2	26587175	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10		26587175	216612198	5	3383											
GPAT2	150763	broad.mit.edu	37	chr2	96687959	96687959	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtttttcctgattgtccAggctggcaaaagtaggggac	9	12	12	8	0	0	1	0	1	0	0	2	2	2	2	2	4	0	4	2	4	4	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr2:96687959A>T	ENST00000434632.1	-	23	2795	c.2336T>A	c.(2335-2337)cTg>cAg	p.L779Q	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.L779Q|GPAT2_ENST00000453542.1_Missense_Mutation_p.L708Q|GPAT2_ENST00000377137.3_3'UTR			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	779					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.L779Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGATTGTCCAGGCTGGCAAA	0.567																																					p.L779Q													GPAT2,trunk,malignant_melanoma,0,2	GPAT2	46	2	2	Substitution - Missense(2)	skin(2)	c.T2336A												30	30	30					2																	96687959		1847	4102	5949	SO:0001583	missense	150763	exon22			TTGTCCAGGCTGG	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2336T>A	2.37:g.96687959A>T	ENSP00000389395:p.Leu779Gln		522	0.0019157088	1		558	0.01	5	NM_207328	4	0	0	Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.199373	0.00299	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.74526	-0.85;-0.85;0.16	4.97	-1.85	0.07784	.	.	.	.	.	T	0.31857	0.0810	N	0.00483	-1.445	0.09310	N	0.999997	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	0.39187	-0.9626	9	0.02654	T	1	-26.1951	5.7343	0.18057	0.1497:0.2636:0.0:0.5866	.	708;785;779;708	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	Q	779;779;708	ENSP00000352547:L779Q;ENSP00000389395:L779Q;ENSP00000393770:L708Q	ENSP00000352547:L779Q	L	-	2	0	GPAT2	96051686	0.001000	0.12720	0.375000	0.26029	0.081000	0.17604	-0.019000	0.12546	-0.483000	0.06772	-0.751000	0.03497	CTG			0.567	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338786.1		NM_207328		T	96687959	A	T	96687959	3	4	48	1	0	0	0	0	1	0	0	0	6603	188	7	5	55	5	GPAT2	2	96687959	Missense_Mutation	SNP	A	TCGA-2G-AAH8-01A-11D-A42Y-10	70100784	96687959	146511414	6	3384											
CRYGB	1419	broad.mit.edu	37	chr2	209007463	209007463	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcagcagatactgccTccccctgtagttgggcatct	6	10	10	15	1	2	1	1	0	1	1	3	1	3	1	4	2	3	4	4	2	2	3			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr2:209007463T>C	ENST00000260988.4	-	3	474	c.427A>G	c.(427-429)Agg>Ggg	p.R143G		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	143	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGATACTGCCTCCCCCTGTAG	0.532																																					p.R143G													CRYGB,trunk,malignant_melanoma,+1,1	CRYGB	24	1	0			c.A427G												97	97	97					2																	209007463		2203	4300	6503	SO:0001583	missense	1419	exon3			ACTGCCTCCCCCT		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.427A>G	2.37:g.209007463T>C	ENSP00000260988:p.Arg143Gly		260	0.0038461538	1		276	0.01	4	NM_005210	1	0	0	Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086675	0.36855	.	.	ENSG00000182187	ENST00000260988	T	0.79033	-1.23	4.73	-2.91	0.05631	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.087422	0.85682	D	0.000000	D	0.83963	0.5368	H	0.97635	4.045	0.30931	N	0.726935	B	0.22480	0.07	B	0.32533	0.147	T	0.80527	-0.1343	10	0.87932	D	0	.	11.0176	0.47698	0.1151:0.0:0.6542:0.2307	.	143	P07316	CRGB_HUMAN	G	143	ENSP00000260988:R143G	ENSP00000260988:R143G	R	-	1	2	CRYGB	208715708	0.000000	0.05858	0.147000	0.22382	0.993000	0.82548	-0.662000	0.05305	-0.516000	0.06470	0.459000	0.35465	AGG			0.532	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256473.2		NM_005210		C	209007463	T	C	209007463	3	2	48	1	0	0	0	0	1	0	0	0	3917	1550	54	4	104	4	CRYGB	2	209007463	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10	112319504	209007463	34191910	7	3385											
BRPF1	7862	mdanderson.org	37	chr3	9783075	9783075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgacttggagcgagctcgGctgctcgtggaattgatccg	7	10	14	10	4	0	2	0	2	0	0	3	5	1	4	1	3	3	3	1	3	1	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr3:9783075G>T	ENST00000457855.1	+	4	1817	c.1806G>T	c.(1804-1806)cgG>cgT	p.R602R	BRPF1_ENST00000424362.1_Silent_p.R602R|BRPF1_ENST00000383829.2_Silent_p.R602R|BRPF1_ENST00000433861.2_Silent_p.R602R|BRPF1_ENST00000302054.3_Silent_p.R602R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	602	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGCGAGCTCGGCTGCTCGTGG	0.493																																					p.R602R													.	.			0			c.G1806T												57	66	63					3																	9783075		2203	4300	6503	SO:0001819	synonymous_variant	7862	exon5			AGCTCGGCTGCTC	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1806G>T	3.37:g.9783075G>T			38	0	0		44	0.07	3	NM_004634	53	0	0	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	CCDS2575.1																																																																																					0.493	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000338485.1		NM_001003694		T	9783075	G	T	9783075	2	4	48	1	0	0	0	0	0	0	0	1	1522	1190	42	2		2	BRPF1	3	9783075	Silent	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		9783075	188239355	8	3386											
GPX1	387	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	49395636	49395636	+	IGR	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcacaggctccccgcCggccagcgggcgcgccgaga	6	2	15	18	6	1	1	1	0	0	1	2	2	2	1	5	4	1	2	5	4	0	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr3:49395636C>A	ENST00000418115.1	-	0	2031				GPX1_ENST00000419349.1_Missense_Mutation_p.G26C|GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.G26C	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGCTCCCCGCCGGCCAGCGGG	0.682																																					.													.	.			0			.												4	5	4					3																	49395636		1728	3852	5580	SO:0001628	intergenic_variant	2876	.			CCCCGCCGGCCAG	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395636C>A			97	0	0		111	0.3	33	.	1310	0.32	421	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801420	0.90538	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.24723	2.54;1.84	5.75	4.77	0.60923	Thioredoxin-like fold (2);	0.267444	0.19749	U	0.106957	T	0.49592	0.1566	M	0.76838	2.35	0.37082	D	0.899048	D;D	0.76494	0.999;0.998	D;P	0.70487	0.969;0.855	T	0.58014	-0.7711	10	0.87932	D	0	.	11.6268	0.51151	0.0:0.883:0.0:0.117	.	26;26	E9PAS1;P07203	.;GPX1_HUMAN	C	26	ENSP00000407375:G26C;ENSP00000391316:G26C	ENSP00000391316:G26C	G	-	1	0	GPX1	49370640	0.001000	0.12720	1.000000	0.80357	0.983000	0.72400	0.408000	0.21065	2.720000	0.93068	0.455000	0.32223	GGC			0.682	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346157.3		NM_001664		A	49395636	C	A	49395636	1	1	48	0	1	0	0	0	0	0	0	0	6754	652	23	1		1	GPX1	3	49395636	IGR	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	39612561	49395636	148626794	9	3387											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					p.E170E	Esophageal Squamous(60;321 1330 17401 41911)												TRH,right_upper_lobe,carcinoma,0,2	TRH	30	2	1	Substitution - coding silent(1)	prostate(1)	c.G510A												33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200	exon3			AGAAGAGGAGGAG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A			52	0	0		62	0.05	3	NM_007117	0		0	B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	CCDS3066.1																																																																																					0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000356592.1		NM_007117		A	129695840	G	A	129695840	2	1	48	1	0	0	0	0	0	0	0	1	16502	991	35	3		3	TRH	3	129695840	Silent	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	80300204	129695840	68326590	10	3388											
PIK3CB	5291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	138374244	138374244	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgttaagatctgtagTctttccgaactgtgtgggcc	7	14	11	9	2	2	2	0	1	2	1	4	3	3	2	2	1	1	2	2	1	3	3			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr3:138374244T>A	ENST00000477593.1	-	23	3273	c.3200A>T	c.(3199-3201)gAc>gTc	p.D1067V	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V			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																																					p.D1067V													PIK3CB,NS,carcinoma,-1,4	PIK3CB	-1	4	1	Substitution - Missense(1)	skin(1)	c.A3200T												139	129	132					3																	138374244		2203	4300	6503	SO:0001583	missense	5291	exon22			CTGTAGTCTTTCC		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		185	0	0		181	0.26	47	NM_006219	95	0.27	26	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	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				A	138374244	T	A	138374244	3	1	48	1	0	0	0	0	1	0	0	0	11931	1667	58	5	14	5	PIK3CB	3	138374244	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10	8678404	138374244	59648186	11	3389											
IGF2BP2	10644	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	185407330	185407330	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctcgctgagggggcgAaggggagctcacctcttcat	6	8	16	11	2	3	1	2	1	1	0	4	3	3	2	1	5	1	3	1	5	1	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr3:185407330A>T	ENST00000382199.2	-	6	585	c.490T>A	c.(490-492)Tcg>Acg	p.S164T	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.S170T|IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.S107T|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.S164T	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	164					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TGAGGGGGCGAAGGGGAGCTC	0.597																																					p.S164T													.	IGF2BP2	69		0			c.T490A												52	57	55					3																	185407330		2203	4298	6501	SO:0001583	missense	10644	exon6			GGGGCGAAGGGGA	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.490T>A	3.37:g.185407330A>T	ENSP00000371634:p.Ser164Thr		201	0.0049751244	1		196	0.28	54	NM_001007225	76	0.29	22	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405039	0.25378	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.43688	2.22;0.94;2.46;2.23	5.03	-4.6	0.03390	Nucleotide-binding, alpha-beta plait (1);	0.917522	0.09475	N	0.797152	T	0.20861	0.0502	N	0.12182	0.205	0.23978	N	0.996285	B;B;B;B;B;B	0.26147	0.143;0.001;0.001;0.001;0.143;0.0	B;B;B;B;B;B	0.29077	0.098;0.003;0.003;0.008;0.062;0.004	T	0.34900	-0.9810	10	0.15066	T	0.55	0.5964	9.835	0.40965	0.2302:0.0:0.6334:0.1364	.	101;101;107;170;164;164	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	T	164;107;170;164	ENSP00000371634:S164T;ENSP00000413787:S107T;ENSP00000410242:S170T;ENSP00000320204:S164T	ENSP00000320204:S164T	S	-	1	0	IGF2BP2	186890024	0.999000	0.42202	0.969000	0.41365	0.998000	0.95712	0.823000	0.27366	-0.743000	0.04784	0.533000	0.62120	TCG			0.597	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000157087.2		NM_006548		T	185407330	A	T	185407330	3	4	48	1	0	0	0	0	1	0	0	0	7589	246	9	5	1353	5	IGF2BP2	3	185407330	Missense_Mutation	SNP	A	TCGA-2G-AAH8-01A-11D-A42Y-10	47033086	185407330	12615100	12	3390											
FBXO45	200933	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	196296078	196296078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgcacggcgatgagAacagcgaggtgtggcggagc	8	5	18	10	4	0	1	0	1	0	1	0	5	0	2	1	4	5	2	1	4	1	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr3:196296078A>G	ENST00000311630.6	+	1	520	c.223A>G	c.(223-225)Aac>Gac	p.N75D	WDR53_ENST00000433160.1_5'Flank|FBXO45_ENST00000440469.1_Intron|WDR53_ENST00000332629.5_5'Flank|WDR53_ENST00000429115.1_5'Flank	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	75	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CGGCGATGAGAACAGCGAGGT	0.652																																					p.N75D													.	FBXO45	18		0			c.A223G												9	13	11					3																	196296078		2138	4263	6401	SO:0001583	missense	200933	exon1			GATGAGAACAGCG	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"F-boxes /  "other""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.223A>G	3.37:g.196296078A>G	ENSP00000310332:p.Asn75Asp		64	0.015625	1		74	0.34	25	NM_001105573	53	0.3	16	A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	a	18.34	3.603082	0.66445	.	.	ENSG00000174013	ENST00000311630	T	0.41400	1.0	5.17	5.17	0.71159	F-box domain, cyclin-like (2);	0.045923	0.85682	D	0.000000	T	0.30916	0.0780	N	0.17631	0.505	0.80722	D	1	B	0.23316	0.083	B	0.27262	0.078	T	0.08207	-1.0733	10	0.25751	T	0.34	-14.5251	15.1223	0.72453	1.0:0.0:0.0:0.0	.	75	P0C2W1	FBSP1_HUMAN	D	75	ENSP00000310332:N75D	ENSP00000310332:N75D	N	+	1	0	FBXO45	197780475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.270000	0.89880	1.966000	0.57179	0.436000	0.28706	AAC			0.652	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340687.2				G	196296078	A	G	196296078	3	3	48	1	0	0	0	0	1	0	0	0	5767	246	9	4	225	4	FBXO45	3	196296078	Missense_Mutation	SNP	A	TCGA-2G-AAH8-01A-11D-A42Y-10	10888748	196296078	1726352	13	3391											
WDR19	57728	mdanderson.org	37	chr4	39218846	39218846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactttttgaaggcaaaGtccagttacatttggtaagt	11	14	9	7	0	0	1	0	1	0	0	1	1	1	1	1	2	2	4	1	2	4	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr4:39218846G>T	ENST00000399820.3	+	13	1496	c.1342G>T	c.(1342-1344)Gtc>Ttc	p.V448F	WDR19_ENST00000506503.1_Missense_Mutation_p.V448F|WDR19_ENST00000288634.7_Missense_Mutation_p.V288F	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	448					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGAAGGCAAAGTCCAGTTACA	0.388																																					p.V448F													.	.			0			c.G1342T												81	74	76					4																	39218846		1860	4097	5957	SO:0001583	missense	57728	exon13			GGCAAAGTCCAGT	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1342G>T	4.37:g.39218846G>T	ENSP00000382717:p.Val448Phe		77	0	0		47	0.06	3	NM_025132	8	0	0	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994805	0.74703	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	D;D;T	0.96587	-4.06;-4.06;0.86	5.63	3.62	0.41486	WD40 repeat-like-containing domain (1);	0.222920	0.45867	D	0.000327	D	0.96658	0.8909	M	0.74647	2.275	0.45087	D	0.998105	B;P	0.52577	0.395;0.954	B;P	0.54270	0.234;0.747	D	0.96381	0.9281	10	0.72032	D	0.01	-16.9879	10.7314	0.46098	0.2073:0.0:0.7927:0.0	.	448;448	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	F	448;288;448;447	ENSP00000382717:V448F;ENSP00000288634:V288F;ENSP00000423491:V448F	ENSP00000288634:V288F	V	+	1	0	WDR19	38895241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.642000	0.54367	1.369000	0.46134	0.591000	0.81541	GTC			0.388	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360689.1				T	39218846	G	T	39218846	3	4	48	1	0	0	0	0	1	0	0	0	17303	1029	36	3	1392	3	WDR19	4	39218846	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		39218846	151935430	14	3392											
BMP3	651	bcgsc.ca;mdanderson.org	37	chr4	81952602	81952602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagctgcagccgcaagacaAggtctctgaacacatgctgc	11	6	11	13	2	1	2	0	1	1	1	2	3	1	2	1	1	6	4	1	1	3	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr4:81952602A>G	ENST00000282701.2	+	1	484	c.164A>G	c.(163-165)aAg>aGg	p.K55R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	55					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						CCGCAAGACAAGGTCTCTGAA	0.677																																					p.K55R													.	BMP3	59		0			c.A164G												31	34	33					4																	81952602		2203	4299	6502	SO:0001583	missense	651	exon1			AAGACAAGGTCTC	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.164A>G	4.37:g.81952602A>G	ENSP00000282701:p.Lys55Arg		131	0	0		116	0.04	5	NM_001201	0		0	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	9.330	1.060267	0.19987	.	.	ENSG00000152785	ENST00000282701	T	0.64991	-0.13	4.67	3.48	0.39840	Transforming growth factor-beta, N-terminal (1);	0.416766	0.27636	N	0.018486	T	0.49304	0.1549	L	0.47716	1.5	0.29591	N	0.848402	B	0.27882	0.192	B	0.28553	0.091	T	0.40459	-0.9562	10	0.15066	T	0.55	.	7.9945	0.30261	0.9055:0.0:0.0945:0.0	.	55	P12645	BMP3_HUMAN	R	55	ENSP00000282701:K55R	ENSP00000282701:K55R	K	+	2	0	BMP3	82171626	1.000000	0.71417	0.967000	0.41034	0.001000	0.01503	2.118000	0.41949	0.809000	0.34255	-0.441000	0.05720	AAG			0.677	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252634.1				G	81952602	A	G	81952602	3	3	48	1	0	0	0	0	1	0	0	0	1461	72	3	4	166	4	BMP3	4	81952602	Missense_Mutation	SNP	A	TCGA-2G-AAH8-01A-11D-A42Y-10	42733756	81952602	109201674	15	3393											
ADH1C	126	broad.mit.edu	37	chr4	100261864	100261864	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgacaacataacagggaagCcatctggaataaagtgaaca	19	6	9	7	0	1	2	0	2	1	0	1	4	1	4	1	2	4	0	1	2	7	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr4:100261864C>T	ENST00000510055.1	-	0	872				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AACAGGGAAGCCATCTGGAAT	0.428																																					.													.	.			0			.												191	179	183					4																	100261864		2203	4300	6503			126	.			GGGAAGCCATCTG	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"Alcohol dehydrogenases"	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261864C>T			143	0	0		75	0.04	3	.	0		0	Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																						0.428	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene		OTTHUMT00000365189.2		NM_000669		T	100261864	C	T	100261864	1	4	48	0	1	0	0	0	0	0	0	0	309	739	26	2		2	ADH1C	4	100261864	RNA	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	18309262	100261864	90892412	16	3394											
NDST4	64579	mdanderson.org	37	chr4	115751039	115751039	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacaccaaaaacccttttgGggatcaaacctacagtacat	15	9	6	11	0	1	1	1	1	0	0	1	2	1	2	3	2	4	1	3	2	5	4			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr4:115751039G>T	ENST00000264363.2	-	13	3084	c.2406C>A	c.(2404-2406)ccC>ccA	p.P802P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	802	Heparan sulfate N-sulfotransferase 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)		AACCCTTTTGGGGATCAAACC	0.358																																					p.P802P													.	.			0			c.C2406A												70	71	70					4																	115751039		2203	4300	6503	SO:0001819	synonymous_variant	64579	exon13			CTTTTGGGGATCA	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.2406C>A	4.37:g.115751039G>T			93	0	0		57	0.05	3	NM_022569	0		0	Q2KHM8	Silent	SNP	ENST00000264363.2	37	CCDS3706.1																																																																																					0.358	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256427.1		NM_022569		T	115751039	G	T	115751039	2	4	48	1	0	0	0	0	0	0	0	1	10275	1219	43	3		3	NDST4	4	115751039	Silent	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	15489175	115751039	75403237	17	3395											
OTUD4	54726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	146059616	146059616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaacactggcctcagtctGcataggaaagtgggcatcag	12	9	11	9	0	3	0	2	0	1	0	3	1	3	1	1	3	2	2	1	3	3	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr4:146059616G>T	ENST00000447906.2	-	21	2498	c.2311C>A	c.(2311-2313)Cag>Aag	p.Q771K	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.Q706K			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	771					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCCTCAGTCTGCATAGGAAAG	0.498																																					p.Q706K													.	.			0			c.C2116A												91	81	84					4																	146059616		2203	4300	6503	SO:0001583	missense	54726	exon21			CAGTCTGCATAGG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2311C>A	4.37:g.146059616G>T	ENSP00000395487:p.Gln771Lys		111	0	0		97	0.34	33	NM_001102653	58	0.48	28	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	G	13.42	2.231452	0.39399	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.30714	1.53;1.52	5.79	4.94	0.65067	.	0.252905	0.33650	N	0.004695	T	0.23289	0.0563	N	0.19112	0.55	0.80722	D	1	B;B	0.27068	0.167;0.104	B;B	0.28011	0.085;0.039	T	0.02736	-1.1117	10	0.28530	T	0.3	-3.5123	16.9016	0.86115	0.0:0.1282:0.8718:0.0	.	771;770	G3V0I6;Q01804	.;OTUD4_HUMAN	K	706;771	ENSP00000409279:Q706K;ENSP00000395487:Q771K	ENSP00000395487:Q771K	Q	-	1	0	OTUD4	146279066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.003000	0.57061	1.437000	0.47472	0.563000	0.77884	CAG			0.498	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000365117.2		NM_017493		T	146059616	G	T	146059616	3	4	48	1	0	0	0	0	1	0	0	0	11331	1328	46	2	1037	2	OTUD4	4	146059616	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	30308577	146059616	45094660	18	3396											
PLEKHG4B	153478	mdanderson.org	37	chr5	163611	163611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagccggagtctgtccTccccctcggggctccaccct	4	8	10	19	2	2	1	1	0	1	1	6	2	5	2	6	3	1	1	6	3	0	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr5:163611T>C	ENST00000283426.6	+	11	2406	c.2356T>C	c.(2356-2358)Tcc>Ccc	p.S786P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	786							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)		GAGTCTGTCCTCCCCCTCGGG	0.657																																					p.S786P													.	.			0			c.T2356C												17	19	18					5																	163611		2201	4298	6499	SO:0001583	missense	153478	exon11			CTGTCCTCCCCCT	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.2356T>C	5.37:g.163611T>C	ENSP00000283426:p.Ser786Pro		74	0	0		59	0.05	3	NM_052909	1	0	0		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134695	0.37630	.	.	ENSG00000153404	ENST00000283426	T	0.32272	1.46	3.14	3.14	0.36123	.	.	.	.	.	T	0.28566	0.0707	N	0.24115	0.695	0.24470	N	0.9944	D	0.61697	0.99	P	0.53649	0.731	T	0.05954	-1.0854	9	0.33141	T	0.24	.	7.7781	0.29049	0.0:0.0:0.0:1.0	.	786	Q96PX9	PKH4B_HUMAN	P	786	ENSP00000283426:S786P	ENSP00000283426:S786P	S	+	1	0	PLEKHG4B	216611	0.974000	0.33945	0.995000	0.50966	0.233000	0.25261	1.148000	0.31614	1.071000	0.40834	0.383000	0.25322	TCC			0.657	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365359.1		NM_052909		C	163611	T	C	163611	3	2	48	1	0	0	0	0	1	0	0	0	12089	1551	54	4	2398	4	PLEKHG4B	5	163611	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10		163611	180751649	19	3397											
HEATR7B2	133558	broad.mit.edu	37	chr5	41057377	41057377	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcttcttacctgctggAgtaaattgataaagatggat	12	14	10	5	0	2	2	0	1	2	1	2	4	2	4	1	3	2	2	1	3	5	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr5:41057377A>G	ENST00000399564.4	-	8	1292	c.842T>C	c.(841-843)cTc>cCc	p.L281P	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	281																	TACCTGCTGGAGTAAATTGAT	0.403																																					p.L281P													.	.			0			c.T842C												59	55	56					5																	41057377		1839	4093	5932	SO:0001583	missense	133558	exon8			TGCTGGAGTAAAT		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.842T>C	5.37:g.41057377A>G	ENSP00000382476:p.Leu281Pro		118	0.0084745763	1		110	0.03	3	NM_173489	0		0	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.976405	0.34848	.	.	ENSG00000171495	ENST00000399564	T	0.74632	-0.86	5.21	3.98	0.46160	Armadillo-type fold (1);	0.151936	0.32655	N	0.005805	T	0.77772	0.4180	L	0.47716	1.5	0.53688	D	0.99997	D	0.69078	0.997	D	0.65010	0.931	T	0.78086	-0.2341	10	0.62326	D	0.03	.	7.8952	0.29702	0.8168:0.0:0.0:0.1832	.	281	Q7Z745	HTRB2_HUMAN	P	281	ENSP00000382476:L281P	ENSP00000382476:L281P	L	-	2	0	HEATR7B2	41093134	1.000000	0.71417	0.977000	0.42913	0.157000	0.22087	2.344000	0.44010	2.317000	0.78254	0.459000	0.35465	CTC			0.403	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367558.2		NM_173489		G	41057377	A	G	41057377	3	3	48	1	0	0	0	0	1	0	0	0	7050	304	11	4	4055	4	HEATR7B2	5	41057377	Missense_Mutation	SNP	A	TCGA-2G-AAH8-01A-11D-A42Y-10	40893766	41057377	139857883	20	3398											
HMGCR	3156	broad.mit.edu	37	chr5	74654641	74654641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagctgtcattccagccaagGttgtcagagaagtgagtgac	12	9	12	8	0	2	3	2	2	0	1	3	4	3	3	2	1	2	2	2	1	3	2	rs373896859		TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr5:74654641G>T	ENST00000287936.4	+	16	2302	c.2146G>T	c.(2146-2148)Gtt>Ttt	p.V716F	HMGCR_ENST00000511206.1_Missense_Mutation_p.V716F|HMGCR_ENST00000343975.5_Missense_Mutation_p.V663F	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	716	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCCAGCCAAGGTTGTCAGAGA	0.338																																					p.V716F													.	HMGCR	53		0			c.G2146T							G	PHE/VAL,PHE/VAL	1,4405	2.1+/-5.4	0,1,2202	116	116	116		2146,1987	4.9	1	5		116	0,8600		0,0,4300	no	missense,missense	HMGCR	NM_000859.2,NM_001130996.1	50,50	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	716/889,663/836	74654641	1,13005	2203	4300	6503	SO:0001583	missense	3156	exon16			GCCAAGGTTGTCA		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2146G>T	5.37:g.74654641G>T	ENSP00000287936:p.Val716Phe		123	0	0		108	0.03	3	NM_000859	160	0	0	B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	CCDS4027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401977|4.401977	0.83120|0.83120	2.27E-4|2.27E-4	0.0|0.0	ENSG00000113161|ENSG00000113161	ENST00000509085|ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286;ENST00000511986	.|T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77	5.77|5.77	4.91|4.91	0.64330|0.64330	.|Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	.|0.051576	.|0.85682	.|D	.|0.000000	T|T	0.77336|0.77336	0.4115|0.4115	H|H	0.96048|0.96048	3.76|3.76	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.992;0.998;0.999;0.998;0.992	.|D;D;D;D;D	.|0.74348	.|0.936;0.975;0.983;0.942;0.957	D|D	0.84524|0.84524	0.0629|0.0629	5|10	.|0.87932	.|D	.|0	-14.483|-14.483	13.335|13.335	0.60512|0.60512	0.0733:0.0:0.9267:0.0|0.0733:0.0:0.9267:0.0	.|.	.|716;647;93;663;716	.|B2R649;B7Z3Y9;B4DSB1;P04035-2;P04035	.|.;.;.;.;HMDH_HUMAN	S|F	45|716;647;716;663;93;43	.|ENSP00000426745:V716F;ENSP00000287936:V716F;ENSP00000340816:V663F;ENSP00000420871:V43F	.|ENSP00000287936:V716F	R|V	+|+	3|1	2|0	HMGCR|HMGCR	74690397|74690397	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	8.017000|8.017000	0.88712|0.88712	1.444000|1.444000	0.47605|0.47605	0.655000|0.655000	0.94253|0.94253	AGG|GTT			0.338	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219877.2				T	74654641	G	T	74654641	3	4	48	1	0	0	0	0	1	0	0	0	7246	1261	44	3	2204	3	HMGCR	5	74654641	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	33597264	74654641	106260619	21	3399											
GRAMD3	65983	broad.mit.edu	37	chr5	125809020	125809020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctttgtatcagaaaactGgatttgttttcattccaaag	11	16	7	7	0	3	1	2	0	1	1	4	2	4	2	1	1	1	3	1	1	4	6			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr5:125809020G>T	ENST00000285689.3	+	5	907	c.446G>T	c.(445-447)tGg>tTg	p.W149L	GRAMD3_ENST00000544396.1_Missense_Mutation_p.W45L|GRAMD3_ENST00000502348.1_Missense_Mutation_p.W40L|GRAMD3_ENST00000515200.1_Missense_Mutation_p.W126L|GRAMD3_ENST00000543198.1_Missense_Mutation_p.W126L|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000511134.1_Missense_Mutation_p.W133L|GRAMD3_ENST00000513040.1_Missense_Mutation_p.W164L|GRAMD3_ENST00000542322.1_Missense_Mutation_p.W157L	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	149	GRAM.					cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TCAGAAAACTGGATTTGTTTT	0.308																																					p.W164L													.	GRAMD3	30		0			c.G491T												52	56	54					5																	125809020		2202	4299	6501	SO:0001583	missense	65983	exon5			AAAACTGGATTTG	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.446G>T	5.37:g.125809020G>T	ENSP00000285689:p.Trp149Leu		258	0	0		239	0.03	6	NM_001146319	5	0	0	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123246	0.94429	.	.	ENSG00000155324	ENST00000513040;ENST00000506445;ENST00000543367;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	D;D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	6.04	6.04	0.98038	GRAM (2);	0.116792	0.64402	D	0.000002	D	0.93877	0.8041	M	0.77486	2.375	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	0.93198	0.6589	10	0.56958	D	0.05	.	20.1743	0.98175	0.0:0.0:1.0:0.0	.	133;45;157;164;149	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	L	164;163;133;149;126;157;45;126;40;133	ENSP00000426120:W164L;ENSP00000424985:W163L;ENSP00000285689:W149L;ENSP00000426143:W126L;ENSP00000441876:W157L;ENSP00000444049:W45L;ENSP00000442902:W126L;ENSP00000427596:W40L;ENSP00000426088:W133L	ENSP00000285689:W149L	W	+	2	0	GRAMD3	125836919	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.886000	0.87288	2.873000	0.98535	0.561000	0.74099	TGG			0.308	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250922.2		NM_023927		T	125809020	G	T	125809020	3	4	48	1	0	0	0	0	1	0	0	0	6766	1357	47	3	678	3	GRAMD3	5	125809020	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	51154379	125809020	55106240	22	3400											
LMNB1	4001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	126171941	126171941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagagcatccaatagaagCtgtgcaattatgtaaaattt	16	11	7	7	0	0	2	0	0	0	2	1	2	1	2	2	0	3	4	2	0	8	4			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr5:126171941C>A	ENST00000261366.5	+	11	2107	c.1746C>A	c.(1744-1746)agC>agA	p.S582R	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	582	Tail.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CCAATAGAAGCTGTGCAATTA	0.333																																					p.S582R													.	.			0			c.C1746A												124	132	129					5																	126171941		2203	4299	6502	SO:0001583	missense	4001	exon11			TAGAAGCTGTGCA	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1746C>A	5.37:g.126171941C>A	ENSP00000261366:p.Ser582Arg		267	0	0		243	0.21	52	NM_005573	259	0.31	80	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889164	0.33348	.	.	ENSG00000113368	ENST00000261366	D	0.83837	-1.77	5.75	4.89	0.63831	.	0.202936	0.51477	D	0.000089	T	0.71693	0.3370	N	0.25647	0.755	0.80722	D	1	B	0.29432	0.244	B	0.25140	0.058	T	0.67273	-0.5712	10	0.24483	T	0.36	.	12.6555	0.56786	0.0:0.9232:0.0:0.0768	.	582	P20700	LMNB1_HUMAN	R	582	ENSP00000261366:S582R	ENSP00000261366:S582R	S	+	3	2	LMNB1	126199840	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.546000	0.45778	1.437000	0.47472	-0.218000	0.12543	AGC			0.333	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250956.2		NM_005573		A	126171941	C	A	126171941	3	1	48	1	0	0	0	0	1	0	0	0	8864	796	28	2	1788	2	LMNB1	5	126171941	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	362921	126171941	54743319	23	3401											
MEGF10	84466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	126755897	126755897	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgcgaacttccctgcCaggtatgcacaaatcagcgc	13	7	9	12	2	1	1	1	0	0	1	2	2	2	1	2	1	5	2	2	1	4	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr5:126755897C>T	ENST00000274473.6	+	13	1855	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	MEGF10_ENST00000508365.1_Nonsense_Mutation_p.Q530*|MEGF10_ENST00000418761.2_Nonsense_Mutation_p.Q530*|MEGF10_ENST00000503335.2_Nonsense_Mutation_p.Q530*	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	530	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACTTCCCTGCCAGGTATGCAC	0.542																																					p.Q530X													.	.			0			c.C1588T												61	53	56					5																	126755897		2203	4300	6503	SO:0001587	stop_gained	84466	exon13			CCCTGCCAGGTAT	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1588C>T	5.37:g.126755897C>T	ENSP00000274473:p.Gln530*		67	0	0		58	0.22	13	NM_032446	0		0	Q68DE5|Q8WUL3	Nonsense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	39	7.697247	0.98438	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	.	.	.	5.72	5.72	0.89469	.	0.074998	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-13.418	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	X	530	.	ENSP00000274473:Q530X	Q	+	1	0	MEGF10	126783796	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.737000	0.84957	2.857000	0.98124	0.650000	0.86243	CAG			0.542	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250973.2		NM_032446		T	126755897	C	T	126755897	4	4	48	1	0	0	0	0	0	1	0	0	9476	595	21	3	1630	3	MEGF10	5	126755897	Nonsense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	583956	126755897	54159363	24	3402											
VARS2	57176	broad.mit.edu	37	chr6	30888845	30888845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctttctctccaggctGtggagtcgggggccctggag	3	10	15	13	1	1	0	0	0	1	0	5	2	3	2	4	5	0	1	4	5	0	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr6:30888845G>T	ENST00000321897.5	+	15	2115	c.1483G>T	c.(1483-1485)Gtg>Ttg	p.V495L	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.V495L|VARS2_ENST00000542001.1_Missense_Mutation_p.V355L|VARS2_ENST00000541562.1_Missense_Mutation_p.V525L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	495					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTCCAGGCTGTGGAGTCGGG	0.557																																					p.V525L													.	VARS2	60		0			c.G1573T												37	37	37					6																	30888845		2203	4300	6503	SO:0001583	missense	57176	exon16			CAGGCTGTGGAGT	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1483G>T	6.37:g.30888845G>T	ENSP00000316092:p.Val495Leu		109	0	0		116	0.03	4	NM_001167734	96	0	0	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022114	0.93462	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.56	4.56	0.56223	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.056675	0.64402	D	0.000001	T	0.34687	0.0906	M	0.73430	2.235	0.49687	D	0.999811	P;P;D	0.60160	0.867;0.938;0.987	P;P;P	0.61722	0.841;0.801;0.893	T	0.24261	-1.0165	10	0.87932	D	0	-24.1053	15.1648	0.72814	0.0:0.0:1.0:0.0	.	493;525;495	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	L	495;495;355;525	ENSP00000316092:V495L;ENSP00000394802:V495L;ENSP00000438200:V355L;ENSP00000441000:V525L	ENSP00000316092:V495L	V	+	1	0	VARS2	30996824	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	5.811000	0.69187	2.250000	0.74265	0.561000	0.74099	GTG			0.557	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076566.2		NM_020442		T	30888845	G	T	30888845	3	4	48	1	0	0	0	0	1	0	0	0	17148	1377	48	3	1635	3	VARS2	6	30888845	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		30888845	140226222	25	3403											
ME1	4199	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	83949272	83949272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatacctctccagctccttGgaatagtattgtttgatcag	11	14	7	9	0	2	1	1	1	1	0	4	2	3	2	3	1	2	3	3	1	5	6			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr6:83949272G>C	ENST00000369705.3	-	8	1014	c.898C>G	c.(898-900)Caa>Gaa	p.Q300E	ME1_ENST00000543031.1_Missense_Mutation_p.Q225E|ME1_ENST00000541327.1_Missense_Mutation_p.Q134E	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	300					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CCAGCTCCTTGGAATAGTATT	0.363																																					p.Q300E													.	.			0			c.C898G												162	154	157					6																	83949272		2203	4300	6503	SO:0001583	missense	4199	exon8			CTCCTTGGAATAG	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.898C>G	6.37:g.83949272G>C	ENSP00000358719:p.Gln300Glu		125	0	0		105	0.12	13	NM_002395	8	0.25	2	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491629	0.84962	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.29142	1.58;1.58;1.58	5.66	5.66	0.87406	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.59794	-0.7387	10	0.87932	D	0	-12.5595	18.5012	0.90882	0.0:0.0:1.0:0.0	.	300	P48163	MAOX_HUMAN	E	300;134;225	ENSP00000358719:Q300E;ENSP00000439912:Q134E;ENSP00000446114:Q225E	ENSP00000358719:Q300E	Q	-	1	0	ME1	84005991	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.039000	0.93777	2.658000	0.90341	0.650000	0.86243	CAA			0.363	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041350.1				C	83949272	G	C	83949272	3	2	48	1	0	0	0	0	1	0	0	0	9433	1357	47	5	848	5	ME1	6	83949272	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	53060427	83949272	87165795	26	3404											
MDN1	23195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	90467976	90467976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaaccaaaccctcacctGtttcttattcctggtgggag	10	11	8	12	0	2	1	1	0	1	1	3	2	3	2	4	2	2	1	4	2	4	3			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr6:90467976G>C	ENST00000369393.3	-	19	2815	c.2700C>G	c.(2698-2700)aaC>aaG	p.N900K	MDN1_ENST00000428876.1_Missense_Mutation_p.N900K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	900					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)		ACCCTCACCTGTTTCTTATTC	0.478																																					p.N900K													.	.			0			c.C2700G												78	72	74					6																	90467976		2203	4300	6503	SO:0001583	missense	23195	exon19			TCACCTGTTTCTT	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.2700C>G	6.37:g.90467976G>C	ENSP00000358400:p.Asn900Lys		100	0	0		107	0.21	22	NM_014611	40	0.15	6	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872653	0.51695	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.44881	0.91;0.91;0.91	6.04	4.28	0.50868	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.80028	2.48	0.58432	D	0.999994	D;D	0.89917	1.0;0.968	D;P	0.77557	0.99;0.898	T	0.60627	-0.7226	10	0.72032	D	0.01	.	10.0323	0.42107	0.2038:0.0:0.7962:0.0	.	827;900	Q5T795;Q9NU22	.;MDN1_HUMAN	K	900;900;827	ENSP00000358400:N900K;ENSP00000413970:N900K;ENSP00000409664:N827K	ENSP00000358400:N900K	N	-	3	2	MDN1	90524697	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.407000	0.59754	0.898000	0.36418	0.563000	0.77884	AAC			0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041514.2				C	90467976	G	C	90467976	3	2	48	1	0	0	0	0	1	0	0	0	9431	1368	48	5	14426	5	MDN1	6	90467976	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	6518704	90467976	80647091	27	3405											
C6orf170	221322	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	121526289	121526289	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagcttcagaattcaaaatTataagtctatcaataatatc	17	15	3	6	0	4	1	3	0	1	1	5	1	4	1	0	0	1	1	0	0	10	8			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr6:121526289T>G	ENST00000398212.2	-	22	2551	c.2502A>C	c.(2500-2502)atA>atC	p.I834I	TBC1D32_ENST00000275159.6_Silent_p.I834I|TBC1D32_ENST00000398197.2_Intron	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	834					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AATTCAAAATTATAAGTCTAT	0.244																																					p.I834I													.	.			0			c.A2502C												46	47	47					6																	121526289		1783	4015	5798	SO:0001819	synonymous_variant	221322	exon22			CAAAATTATAAGT	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2502A>C	6.37:g.121526289T>G			376	0	0		392	0.18	69	NM_152730	3	0.33	1	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	CCDS43501.1																																																																																					0.244	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380937.2		NM_152730		G	121526289	T	G	121526289	2	3	48	1	0	0	0	0	0	0	0	1	2346	1744	61	4		4	C6orf170	6	121526289	Silent	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10	31058313	121526289	49588778	28	3406											
C7orf27	221927	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	2580652	2580652	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctctcgaggcactccaggagGacagcaagcgcctgcgtcac	9	5	12	15	3	2	0	1	0	1	0	4	3	3	2	2	3	3	2	2	3	1	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr7:2580652G>C	ENST00000340611.4	-	10	1612	c.1356C>G	c.(1354-1356)gtC>gtG	p.V452V	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	452					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						ACTCCAGGAGGACAGCAAGCG	0.672																																					p.V452V													.	.			0			c.C1356G												18	20	19					7																	2580652		2199	4292	6491	SO:0001819	synonymous_variant	221927	exon10			CAGGAGGACAGCA	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.1356C>G	7.37:g.2580652G>C			207	0	0		276	0.36	100	NM_152743	211	0.25	53	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																					0.672	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239305.2		NM_152743		C	2580652	G	C	2580652	2	2	48	1	0	0	0	0	0	0	0	1	2384	1161	41	5		5	C7orf27	7	2580652	Silent	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		2580652	156558011	29	3407											
HOXA4	3201	mdanderson.org	37	chr7	27170154	27170154	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaggcagtgggctctcGgccgccgcccgcgtgaggga	5	5	19	12	5	1	1	0	1	1	0	2	3	1	3	3	5	0	3	3	5	1	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr7:27170154G>T	ENST00000360046.5	-	1	264	c.199C>A	c.(199-201)Cga>Aga	p.R67R	HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Silent_p.R67R|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	67	Pro-rich (part of the transcriptional activation domain).				anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GTGGGCTCTCGGCCGCCGCCC	0.801																																					p.R67R													.	.			0			c.C199A												1	1	1					7																	27170154		872	2077	2949	SO:0001819	synonymous_variant	3201	exon1			GCTCTCGGCCGCC		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.199C>A	7.37:g.27170154G>T			24	0	0		11	0.18	2	NM_002141	0		0	A4D180|O43366	Silent	SNP	ENST00000360046.5	37	CCDS5405.1																																																																																					0.801	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059534.4				T	27170154	G	T	27170154	2	4	48	1	0	0	0	0	0	0	0	1	7309	1124	39	1		1	HOXA4	7	27170154	Silent	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	24589502	27170154	131968509	30	3408											
ZNF680	340252	ucsc.edu	37	chr7	63981631	63981631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctagtaaggtgtgaggaccGgttaaaagctttgccacatt	11	12	11	7	1	1	1	0	1	1	0	1	2	1	2	2	3	2	3	2	3	4	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr7:63981631G>A	ENST00000309683.6	-	4	1652	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TGTGAGGACCGGTTAAAAGCT	0.358																																					p.R501W													ZNF680,NS,carcinoma,+1,1	ZNF680	58	1	0			c.C1501T												65	69	67					7																	63981631		2203	4300	6503	SO:0001583	missense	340252	exon4			AGGACCGGTTAAA	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1501C>T	7.37:g.63981631G>A	ENSP00000309330:p.Arg501Trp		121	0	0		179	0.01	1	NM_178558	51	0.29	15	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.035027	0.54896	.	.	ENSG00000173041	ENST00000309683	T	0.58210	0.35	1.31	-2.46	0.06461	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51466	0.1676	L	0.45285	1.41	0.09310	N	1	D	0.89917	1.0	D	0.64877	0.93	T	0.41142	-0.9525	9	0.27082	T	0.32	.	2.0402	0.03549	0.2511:0.0:0.4566:0.2924	.	501	Q8NEM1	ZN680_HUMAN	W	501	ENSP00000309330:R501W	ENSP00000309330:R501W	R	-	1	2	ZNF680	63619066	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	0.133000	0.15912	-0.859000	0.04105	-0.359000	0.07587	CGG			0.358	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344568.1		NM_178558		A	63981631	G	A	63981631	3	1	48	1	0	0	0	0	1	0	0	0	18110	1115	39	1	95	1	ZNF680	7	63981631	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	36811477	63981631	95157032	31	3409											
ELN	2006	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	73466166	73466166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggaattggaggcatcGcaggtaacatctgtcccagc	9	10	11	11	1	1	0	0	0	1	0	4	2	3	2	2	4	2	3	2	4	2	3			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr7:73466166G>T	ENST00000252034.7	+	16	1285	c.886G>T	c.(886-888)Gca>Tca	p.A296S	ELN_ENST00000380584.4_Missense_Mutation_p.A282S|ELN_ENST00000414324.1_Missense_Mutation_p.A291S|ELN_ENST00000320492.7_Missense_Mutation_p.A260S|ELN_ENST00000458204.1_Missense_Mutation_p.A286S|ELN_ENST00000358929.4_Missense_Mutation_p.A296S|ELN_ENST00000445912.1_Missense_Mutation_p.A296S|ELN_ENST00000357036.5_Missense_Mutation_p.A301S|ELN_ENST00000380553.4_Missense_Mutation_p.A179S|ELN_ENST00000380575.4_Missense_Mutation_p.A286S|ELN_ENST00000380562.4_Missense_Mutation_p.A296S|ELN_ENST00000380576.5_Missense_Mutation_p.A296S|ELN_ENST00000429192.1_Missense_Mutation_p.A301S|ELN_ENST00000320399.6_Missense_Mutation_p.A296S	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	296	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGAGGCATCGCAGGTAACAT	0.622			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A301S				Dom	yes		7	7q11.23	2006	elastin	yes	L	.	ELN	81		0			c.G901T												109	88	95					7																	73466166		2203	4300	6503	SO:0001583	missense	2006	exon16			GGCATCGCAGGTA		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.886G>T	7.37:g.73466166G>T	ENSP00000252034:p.Ala296Ser		134	0.0074626866	1	1145	191	0.18	34	NM_001081753	0		0	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018860	0.35606	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000438906;ENST00000438880;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	1.34;1.34;1.36;1.29;0.88;0.79;1.36;1.34;1.39;1.37;1.35;1.33;1.35;1.24;1.4;1.34	4.81	2.96	0.34315	.	.	.	.	.	T	0.37705	0.1013	L	0.38175	1.15	0.33790	D	0.625422	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.45474	0.859;0.859;0.859;0.859;0.859;0.859;0.859;0.859;0.859;0.859;0.859;0.859;0.859;0.859	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.43052	0.406;0.406;0.406;0.406;0.406;0.406;0.406;0.406;0.406;0.406;0.406;0.406;0.406;0.406	T	0.47837	-0.9086	9	0.38643	T	0.18	-5.3465	8.321	0.32130	0.1756:0.0:0.8244:0.0	.	296;265;260;291;286;296;286;301;301;296;179;252;282;296	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	296;296;296;260;274;157;291;296;286;282;286;301;301;265;179;296;296	ENSP00000389857:A296S;ENSP00000252034:A296S;ENSP00000351807:A296S;ENSP00000315607:A260S;ENSP00000406949:A274S;ENSP00000389206:A157S;ENSP00000392575:A291S;ENSP00000369936:A296S;ENSP00000369949:A286S;ENSP00000369958:A282S;ENSP00000403162:A286S;ENSP00000349540:A301S;ENSP00000391129:A301S;ENSP00000369926:A179S;ENSP00000369950:A296S;ENSP00000313565:A296S	ENSP00000252034:A296S	A	+	1	0	ELN	73104102	0.995000	0.38212	0.951000	0.38953	0.361000	0.29550	2.366000	0.44204	0.538000	0.28769	0.551000	0.68910	GCA			0.622	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000316913.1		NM_000501		T	73466166	G	T	73466166	3	4	48	1	0	0	0	0	1	0	0	0	5078	1087	38	1	963	1	ELN	7	73466166	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	9484535	73466166	85672497	32	3410											
MLL5	55904	broad.mit.edu	37	chr7	104747054	104747054	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacacctactccttccccGtatgctacaccaactcacac	10	9	2	20	1	1	0	1	0	0	0	4	0	4	0	6	0	4	2	6	0	4	4			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr7:104747054G>A	ENST00000311117.3	+	20	3227	c.2682G>A	c.(2680-2682)ccG>ccA	p.P894P	KMT2E_ENST00000334914.7_5'UTR|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Silent_p.P894P|KMT2E_ENST00000257745.4_Silent_p.P894P	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	894					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)										CTCCTTCCCCGTATGCTACAC	0.398																																					p.P894P													.	MLL5	173		0			c.G2682A												152	151	152					7																	104747054		2203	4300	6503	SO:0001819	synonymous_variant	55904	exon19			TTCCCCGTATGCT	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.2682G>A	7.37:g.104747054G>A			207	0	0		402	0.01	6	NM_018682	26	0	0	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	CCDS34723.1																																																																																					0.398	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348697.1				A	104747054	G	A	104747054	2	1	48	1	0	0	0	0	0	0	0	1	9640	1132	40	1		1	MLL5	7	104747054	Silent	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	31280888	104747054	54391609	33	3411											
GSTK1	373156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	142961249	142961249	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcataacagggatcaTgaaagacagtggtaggaagg	15	6	13	7	0	2	2	2	1	0	1	2	4	2	4	1	4	2	1	1	4	4	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr7:142961249T>A	ENST00000358406.5	+	2	214	c.143T>A	c.(142-144)aTg>aAg	p.M48K	GSTK1_ENST00000443571.2_Missense_Mutation_p.M48K|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000479303.1_Missense_Mutation_p.M48K|GSTK1_ENST00000409500.3_Missense_Mutation_p.M48K	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	48					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	ACAGGGATCATGAAAGACAGT	0.572																																					p.M48K													.	.			0			c.T143A												54	46	49					7																	142961249		2203	4300	6503	SO:0001583	missense	373156	exon2			GGATCATGAAAGA		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.143T>A	7.37:g.142961249T>A	ENSP00000351181:p.Met48Lys		163	0	0		211	0.11	24	NM_001143681	103	0.17	17	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855774	0.91355	.	.	ENSG00000197448	ENST00000436038;ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	6.14	6.14	0.99180	DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.110994	0.85682	D	0.000000	T	0.79505	0.4457	M	0.86028	2.79	0.58432	D	0.999997	P;P;D;D	0.55800	0.828;0.604;0.973;0.958	P;B;P;D	0.63877	0.488;0.334;0.726;0.919	T	0.79976	-0.1576	9	0.38643	T	0.18	-22.0507	14.758	0.69583	0.0:0.0:0.0:1.0	.	48;48;48;48	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	K	38;48;48;48;48	.	ENSP00000351181:M48K	M	+	2	0	GSTK1	142671371	1.000000	0.71417	0.999000	0.59377	0.654000	0.38779	4.859000	0.62954	2.367000	0.80283	0.529000	0.55759	ATG			0.572	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327091.1		NM_015917		A	142961249	T	A	142961249	3	1	48	1	0	0	0	0	1	0	0	0	6851	1464	51	5	149	5	GSTK1	7	142961249	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10	38214195	142961249	16177414	34	3412											
ATG9B	285973	broad.mit.edu;mdanderson.org	37	chr7	150713893	150713893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggtgcacgaagaggttgGccaggaaggctcaggctggg	9	5	20	7	1	1	1	1	0	0	1	1	4	1	2	1	7	1	4	1	7	2	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr7:150713893G>T	ENST00000377974.2	-	11	2378	c.2303C>A	c.(2302-2304)gCc>gAc	p.A768D	ATG9B_ENST00000444312.1_Missense_Mutation_p.A254D|ATG9B_ENST00000605938.1_Missense_Mutation_p.P769T|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	769					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)		GAAGAGGTTGGCCAGGAAGGC	0.607																																					.													.	ATG9B	51		0			.												39	44	43					7																	150713893		2066	4215	6281	SO:0001583	missense	285973	.			AGGTTGGCCAGGA	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.2303C>A	7.37:g.150713893G>T	ENSP00000475005:p.Ala768Asp		88	0	0		117	0.05	6	.	2	0	0	A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.23|15.23	2.773144|2.773144	0.49680|0.49680	.|.	.|.	ENSG00000248602|ENSG00000248602	ENST00000377974;ENST00000444312|ENST00000397266	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75376|0.75376	0.3841|0.3841	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.76494|.	0.999|.	D|.	0.63488|.	0.915|.	T|T	0.79155|0.79155	-0.1920|-0.1920	7|4	0.40728|0.62326	T|D	0.16|0.03	-18.1467|-18.1467	16.5113|16.5113	0.84286|0.84286	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	769|.	Q674R7|.	ATG9B_HUMAN|.	D|T	768;254|769	.|.	ENSP00000444232:A768D|ENSP00000380436:P769T	A|P	-|-	2|1	0|0	AC010973.1|AC010973.1	150344826|150344826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	5.465000|5.465000	0.66725|0.66725	2.485000|2.485000	0.83878|0.83878	0.561000|0.561000	0.74099|0.74099	GCC|CCA			0.607	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_173681		T	150713893	G	T	150713893	3	4	48	1	0	0	0	0	1	0	0	0	1103	1203	42	2	484	2	ATG9B	7	150713893	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	7752644	150713893	8424770	35	3413											
GALNTL5	168391	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	151716815	151716815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgagttaaggaaacgactgGgttgcaagtcatttcagtgg	11	12	13	5	1	2	1	2	1	0	0	2	3	2	2	0	3	2	3	0	3	3	4			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr7:151716815G>C	ENST00000392800.2	+	9	1515	c.1261G>C	c.(1261-1263)Ggt>Cgt	p.G421R	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G421R	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	421					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GAAACGACTGGGTTGCAAGTC	0.393																																					p.G421R													.	.			0			c.G1261C												122	115	117					7																	151716815		2203	4300	6503	SO:0001583	missense	168391	exon9			CGACTGGGTTGCA	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1261G>C	7.37:g.151716815G>C	ENSP00000376548:p.Gly421Arg		116	0	0		197	0.17	34	NM_145292	1	0	0	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439244	0.63067	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.27557	1.66;1.66	5.01	4.11	0.48088	.	0.000000	0.49916	D	0.000136	T	0.33789	0.0875	L	0.54965	1.715	0.35672	D	0.813391	P;P	0.50617	0.937;0.482	P;B	0.46320	0.512;0.145	T	0.50180	-0.8858	10	0.59425	D	0.04	.	11.1523	0.48466	0.0:0.1857:0.8143:0.0	.	172;421	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	R	421	ENSP00000392582:G421R;ENSP00000376548:G421R	ENSP00000376548:G421R	G	+	1	0	GALNTL5	151347748	1.000000	0.71417	0.916000	0.36221	0.953000	0.61014	2.420000	0.44679	1.279000	0.44446	0.650000	0.86243	GGT			0.393	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348395.1		NM_145292		C	151716815	G	C	151716815	3	2	48	1	0	0	0	0	1	0	0	0	6238	1232	43	5	1291	5	GALNTL5	7	151716815	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	1002922	151716815	7421848	36	3414											
PGCP	10404	broad.mit.edu	37	chr8	97892110	97892110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagatgcagaaatgatGtcaagaatggcttctcatgg	13	10	13	5	0	2	4	2	1	1	3	3	5	2	5	0	3	1	2	0	3	4	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr8:97892110G>T	ENST00000220763.5	+	4	936	c.726G>T	c.(724-726)atG>atT	p.M242I		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	242					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										CAGAAATGATGTCAAGAATGG	0.458																																					p.M242I													.	.			0			c.G726T												199	195	197					8																	97892110		2203	4300	6503	SO:0001583	missense	10404	exon4			AATGATGTCAAGA	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.726G>T	8.37:g.97892110G>T	ENSP00000220763:p.Met242Ile		223	0	0		343	0.02	6	NM_016134	44	0	0	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130351	0.37630	.	.	ENSG00000104324	ENST00000220763	T	0.36878	1.23	5.53	3.74	0.42951	.	0.043875	0.85682	D	0.000000	T	0.19046	0.0457	N	0.10916	0.065	0.41598	D	0.988836	B;B	0.06786	0.001;0.0	B;B	0.08055	0.001;0.003	T	0.04551	-1.0943	10	0.29301	T	0.29	-22.082	10.0391	0.42146	0.145:0.0:0.855:0.0	.	242;242	B5MDX4;Q9Y646	.;PGCP_HUMAN	I	242	ENSP00000220763:M242I	ENSP00000220763:M242I	M	+	3	0	AC010859.1	97961286	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.689000	0.54706	0.825000	0.34637	0.586000	0.80456	ATG			0.458	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379757.2		NM_016134		T	97892110	G	T	97892110	3	4	48	1	0	0	0	0	1	0	0	0	11803	1377	48	3	736	3	PGCP	8	97892110	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		97892110	48471912	37	3415											
ATAD2	29028	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	124383988	124383988	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacaacttcgacgcactTcaacatcaccattatcttca	12	12	2	15	2	4	0	3	0	1	0	6	1	5	0	2	0	3	1	2	0	4	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr8:124383988T>G	ENST00000287394.5	-	4	565	c.458A>C	c.(457-459)gAa>gCa	p.E153A	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	153					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)			TCGACGCACTTCAACATCACC	0.373																																					p.E153A													.	ATAD2	160		0			c.A458C												191	143	160					8																	124383988		2203	4300	6503	SO:0001583	missense	29028	exon4			CGCACTTCAACAT	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.458A>C	8.37:g.124383988T>G	ENSP00000287394:p.Glu153Ala		269	0.0074349442	2		383	0.21	80	NM_014109	90	0.17	15	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.951035	0.34471	.	.	ENSG00000156802	ENST00000287394	T	0.32023	1.47	4.86	4.86	0.63082	.	1.515090	0.03682	N	0.245620	T	0.44456	0.1294	M	0.74258	2.255	0.80722	D	1	B	0.33448	0.412	B	0.35655	0.207	T	0.21008	-1.0258	10	0.41790	T	0.15	-20.522	14.1376	0.65297	0.0:0.0:0.0:1.0	.	153	Q6PL18	ATAD2_HUMAN	A	153	ENSP00000287394:E153A	ENSP00000287394:E153A	E	-	2	0	ATAD2	124453169	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	4.364000	0.59479	1.812000	0.52913	0.459000	0.35465	GAA			0.373	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381766.2		NM_014109		G	124383988	T	G	124383988	3	3	48	1	0	0	0	0	1	0	0	0	1071	1783	62	4	3814	4	ATAD2	8	124383988	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10	26491878	124383988	21980034	38	3416											
EPPK1	83481	mdanderson.org	37	chr8	144946192	144946192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctccaggggcagccggagCctgcgtgctggacagaccag	7	4	16	14	2	0	1	0	0	0	1	1	3	1	3	5	4	4	2	5	4	0	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr8:144946192C>T	ENST00000525985.1	-	2	1301	c.1230G>A	c.(1228-1230)agG>agA	p.R410R				P58107	EPIPL_HUMAN	epiplakin 1	410						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)			GCAGCCGGAGCCTGCGTGCTG	0.677																																					p.R410R													.	.			0			c.G1230A												3	4	4					8																	144946192		1885	3929	5814	SO:0001819	synonymous_variant	83481	exon1			CCGGAGCCTGCGT	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.1230G>A	8.37:g.144946192C>T			23	0	0		38	0.08	3	NM_031308	5	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																						0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382675.1		NM_031308		T	144946192	C	T	144946192	2	4	48	1	0	0	0	0	0	0	0	1	5197	738	26	2		2	EPPK1	8	144946192	Silent	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	20562204	144946192	1417830	39	3417											
BAAT	570	mdanderson.org	37	chr9	104125233	104125233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttgctttaggtaaataGccatagatagtccaatctgt	12	14	8	7	0	1	2	0	1	1	1	2	2	2	2	2	1	2	2	2	1	7	7			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr9:104125233G>T	ENST00000395051.3	-	3	804	c.734C>A	c.(733-735)gCt>gAt	p.A245D	BAAT_ENST00000259407.2_Missense_Mutation_p.A245D			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	245					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TAGGTAAATAGCCATAGATAG	0.413																																					p.A245D													.	.			0			c.C734A												102	105	104					9																	104125233		2201	4300	6501	SO:0001583	missense	570	exon4			TAAATAGCCATAG	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.734C>A	9.37:g.104125233G>T	ENSP00000378491:p.Ala245Asp		82	0	0		48	0.06	3	NM_001127610	0		0	Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238937	0.39598	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.64618	-0.11;-0.11	4.96	3.12	0.35913	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.276182	0.30890	N	0.008680	T	0.79851	0.4517	M	0.89968	3.075	0.47862	D	0.999536	D	0.89917	1.0	D	0.97110	1.0	T	0.80181	-0.1489	10	0.87932	D	0	-16.3631	8.4849	0.33065	0.0852:0.1552:0.7596:0.0	.	245	Q14032	BAAT_HUMAN	D	245	ENSP00000259407:A245D;ENSP00000378491:A245D	ENSP00000259407:A245D	A	-	2	0	BAAT	103165054	1.000000	0.71417	0.783000	0.31826	0.016000	0.09150	3.311000	0.51919	0.674000	0.31244	-0.176000	0.13171	GCT			0.413	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053433.1				T	104125233	G	T	104125233	3	4	48	1	0	0	0	0	1	0	0	0	1280	971	34	2	526	2	BAAT	9	104125233	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		104125233	37088198	40	3418											
ZMYND19	116225	ucsc.edu;bcgsc.ca	37	chr9	140481474	140481474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccccacggcaccagttGcaggttgtccaggcgattgt	7	8	12	14	2	0	0	0	0	0	0	1	1	1	0	5	3	2	4	5	3	0	3			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr9:140481474G>T	ENST00000298585.2	-	4	530	c.304C>A	c.(304-306)Caa>Aaa	p.Q102K	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	102						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		GGCACCAGTTGCAGGTTGTCC	0.662																																					p.Q102K													.	ZMYND19	16		0			c.C304A												55	54	54					9																	140481474		2203	4300	6503	SO:0001583	missense	116225	exon4			CCAGTTGCAGGTT	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"Zinc fingers, MYND-type"	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.304C>A	9.37:g.140481474G>T	ENSP00000298585:p.Gln102Lys		35	0	0		40	0.1	4	NM_138462	274	0	0	Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	G	8.228	0.804051	0.16467	.	.	ENSG00000165724	ENST00000298585	.	.	.	4.92	2.96	0.34315	.	0.198409	0.45606	D	0.000351	T	0.34454	0.0898	N	0.19112	0.55	0.39630	D	0.970161	B	0.02656	0.0	B	0.04013	0.001	T	0.22836	-1.0205	9	0.02654	T	1	-18.64	10.1304	0.42676	0.0:0.1492:0.696:0.1548	.	102	Q96E35	ZMY19_HUMAN	K	102	.	ENSP00000298585:Q102K	Q	-	1	0	ZMYND19	139601295	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.169000	0.71913	0.577000	0.29470	0.655000	0.94253	CAA			0.662	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055356.1		NM_138462		T	140481474	G	T	140481474	3	4	48	1	0	0	0	0	1	0	0	0	17733	1328	46	2	391	2	ZMYND19	9	140481474	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	36356241	140481474	731957	41	3419											
MRC1	4360	broad.mit.edu	37	chr10	18138582	18138582	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacaagattcacagagatGagaaaaaaatccagagggat	19	7	10	5	0	1	4	1	1	0	4	2	7	2	5	1	1	1	1	1	1	5	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr10:18138582G>T	ENST00000239761.3	+	7	1241	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	380	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						TCACAGAGATGAGAAAAAAAT	0.483																																					p.E380X	GBM(115;1153 1594 28187 28781 35884)												.	MRC1	13		0			c.G1138T												38	46	43					10																	18138582		2149	3676	5825	SO:0001587	stop_gained	4360	exon7			AGAGATGAGAAAA	J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"CD molecules", "C-type lectin domain containing"	7228	protein-coding gene	gene with protein product		153618	"mannose receptor, C type 1-like 1"	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.1138G>T	10.37:g.18138582G>T	ENSP00000239761:p.Glu380*		409	0	0		504	0.01	4	NM_002438	3	0	0	A5PKW3|Q5VSJ2|Q5VSK2	Nonsense_Mutation	SNP	ENST00000239761.3	37	CCDS7123.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780254	0.90195	.	.	ENSG00000120586	ENST00000239761	.	.	.	4.35	3.43	0.39272	.	0.104739	0.39687	U	0.001297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.0062	12.4185	0.55508	0.0:0.1696:0.8304:0.0	.	.	.	.	X	380	.	ENSP00000239761:E380X	E	+	1	0	MRC1	18178588	0.794000	0.28838	0.759000	0.31340	0.228000	0.25075	1.226000	0.32563	0.801000	0.34066	0.430000	0.28490	GAG			0.483	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047057.1		NM_002438		T	18138582	G	T	18138582	4	4	48	1	0	0	0	0	0	1	0	0	9772	1291	45	3	5655	3	MRC1	10	18138582	Nonsense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		18138582	117396165	42	3420											
ENTPD7	57089	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	101451184	101451184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattggcagcaggacggaGaaggacagtagggatactgg	13	5	18	5	1	0	1	0	0	0	1	0	6	0	5	0	7	2	3	0	7	4	3			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr10:101451184G>T	ENST00000370489.4	+	8	930	c.752G>T	c.(751-753)aGa>aTa	p.R251I		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	251						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCAGGACGGAGAAGGACAGTA	0.418																																					p.R251I													.	ENTPD7	44		0			c.G752T												101	93	96					10																	101451184		2203	4300	6503	SO:0001583	missense	57089	exon8			GACGGAGAAGGAC	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.752G>T	10.37:g.101451184G>T	ENSP00000359520:p.Arg251Ile		99	0.0101010101	1		103	0.05	5	NM_020354	8	0	0	B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607913	0.46527	.	.	ENSG00000198018	ENST00000370489	T	0.11712	2.75	5.05	0.659	0.17861	.	0.225052	0.44688	D	0.000425	T	0.09730	0.0239	L	0.48362	1.52	0.44275	D	0.997139	B	0.16802	0.019	B	0.23275	0.045	T	0.12915	-1.0529	10	0.45353	T	0.12	-4.8798	8.541	0.33393	0.5804:0.0:0.4196:0.0	.	251	Q9NQZ7	ENTP7_HUMAN	I	251	ENSP00000359520:R251I	ENSP00000359520:R251I	R	+	2	0	ENTPD7	101441174	0.993000	0.37304	0.997000	0.53966	0.971000	0.66376	1.322000	0.33689	0.222000	0.20900	-0.140000	0.14226	AGA			0.418	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049809.2		NM_020354		T	101451184	G	T	101451184	3	4	48	1	0	0	0	0	1	0	0	0	5151	942	33	3	778	3	ENTPD7	10	101451184	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	83312602	101451184	34083563	43	3421											
AP2A2	161	mdanderson.org	37	chr11	1000510	1000510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggccccccaccctcctccGgcggcagcgggctgctcgtg	2	5	14	20	5	0	0	0	0	0	0	3	0	2	0	6	4	2	3	6	4	0	0	rs570397060		TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr11:1000510G>T	ENST00000448903.2	+	15	2176	c.2035G>T	c.(2035-2037)Ggc>Tgc	p.G679C	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.G680C	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	679					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)		ACCCTCCTCCGGCGGCAGCGG	0.677																																					p.G680C													.	.			0			c.G2038T												5	5	5					11																	1000510		1748	3884	5632	SO:0001583	missense	161	exon15			TCCTCCGGCGGCA	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.2035G>T	11.37:g.1000510G>T	ENSP00000413234:p.Gly679Cys		33	0	0		27	0.07	2	NM_001242837	23	0	0	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194217	0.38707	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.19105	2.17;2.17	2.15	0.191	0.15130	.	0.670581	0.15142	N	0.278258	T	0.24353	0.0590	L	0.53249	1.67	0.09310	N	1	P;B	0.35174	0.488;0.355	P;B	0.44447	0.45;0.263	T	0.22068	-1.0227	10	0.59425	D	0.04	-60.0054	6.412	0.21696	0.4843:0.0:0.5157:0.0	.	680;679	O94973-2;O94973	.;AP2A2_HUMAN	C	679;680;416;419	ENSP00000413234:G679C;ENSP00000327694:G680C	ENSP00000327694:G680C	G	+	1	0	AP2A2	990510	0.101000	0.21875	0.059000	0.19551	0.897000	0.52465	1.269000	0.33074	0.037000	0.15575	-0.234000	0.12200	GGC			0.677	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000385431.2		NM_012305		T	1000510	G	T	1000510	3	4	48	1	0	0	0	0	1	0	0	0	740	1116	39	1	2093	1	AP2A2	11	1000510	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		1000510	134006006	44	3422											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	1269803	1269803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacaaccaccacacccaCaaccagtggctccacggtga	13	3	7	18	1	0	1	0	1	0	0	1	1	1	1	5	2	3	2	5	2	2	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr11:1269803C>G	ENST00000529681.1	+	31	11751	c.11693C>G	c.(11692-11694)aCa>aGa	p.T3898R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3901R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3898	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)		ACCACACCCACAACCAGTGGC	0.652																																					p.T3898R													.	.			0			c.C11693G												110	133	125					11																	1269803		2101	4205	6306	SO:0001583	missense	727897	exon31			CACCCACAACCAG	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.11693C>G	11.37:g.1269803C>G	ENSP00000436812:p.Thr3898Arg		256	0	0		249	0.23	57	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	3.837	-0.034678	0.07543	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18810	2.19;2.37	2.87	-4.32	0.03688	.	.	.	.	.	T	0.14399	0.0348	M	0.63843	1.955	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.27608	0.081;0.081	T	0.08249	-1.0731	9	0.87932	D	0	.	4.5541	0.12128	0.3307:0.4294:0.0:0.2398	.	4426;3901	A7Y9J9;E9PBJ0	.;.	R	3898;3901;3842;3803	ENSP00000436812:T3898R;ENSP00000415793:T3901R	ENSP00000343037:T3842R	T	+	2	0	MUC5B	1226379	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.467000	0.02352	-0.965000	0.03591	-1.031000	0.02408	ACA			0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093		G	1269803	C	G	1269803	3	3	48	1	0	0	0	0	1	0	0	0	9995	478	17	5	11824	5	MUC5B	11	1269803	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	269293	1269803	133736713	45	3423											
TNKS1BP1	85456	mdanderson.org	37	chr11	57076874	57076874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctccagtcctgctgccctGggctaaatgctgcctctcgc	4	10	11	16	1	1	0	0	0	1	0	4	0	3	0	4	2	4	4	4	2	2	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr11:57076874G>T	ENST00000532437.1	-	5	3622	c.3311C>A	c.(3310-3312)cCa>cAa	p.P1104Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1104Q|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1104	Acidic.|Gly-rich.				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)				CTGCTGCCCTGGGCTAAATGC	0.592																																					p.P1104Q													.	.			0			c.C3311A												81	73	76					11																	57076874		2201	4296	6497	SO:0001583	missense	85456	exon6			TGCCCTGGGCTAA	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.3311C>A	11.37:g.57076874G>T	ENSP00000437271:p.Pro1104Gln		71	0	0		49	0.06	3	NM_033396	80	0	0	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853359	0.32791	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33438	1.41;1.41	5.05	2.93	0.34026	.	0.477150	0.17550	N	0.170223	T	0.41488	0.1161	L	0.51422	1.61	0.09310	N	1	D	0.71674	0.998	D	0.66497	0.944	T	0.12811	-1.0533	10	0.72032	D	0.01	-1.4207	5.0209	0.14361	0.3003:0.0:0.6997:0.0	.	1104	Q9C0C2	TB182_HUMAN	Q	1104	ENSP00000350990:P1104Q;ENSP00000437271:P1104Q	ENSP00000350990:P1104Q	P	-	2	0	TNKS1BP1	56833450	0.001000	0.12720	0.064000	0.19789	0.432000	0.31715	0.971000	0.29396	1.135000	0.42183	0.462000	0.41574	CCA			0.592	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392455.1		NM_033396		T	57076874	G	T	57076874	3	4	48	1	0	0	0	0	1	0	0	0	16343	1348	47	3	1902	3	TNKS1BP1	11	57076874	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	55807071	57076874	77929642	46	3424											
OR5B17	219965	mdanderson.org	37	chr11	58126036	58126036	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtgatgaatcacattGgacatgcagaaagagaggcg	18	6	12	5	1	1	4	1	2	0	2	1	6	1	5	0	2	1	1	0	2	4	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr11:58126036G>T	ENST00000357377.3	-	1	506	c.507C>A	c.(505-507)tcC>tcA	p.S169S		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	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)|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)				GAATCACATTGGACATGCAGA	0.398																																					p.S169S													OR5B17,NS,malignant_melanoma,-1,1	OR5B17	-1	1	0			c.C507A												87	79	82					11																	58126036		2201	4295	6496	SO:0001819	synonymous_variant	219965	exon1			CACATTGGACATG	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.507C>A	11.37:g.58126036G>T			64	0	0		57	0.05	3	NM_001005489	0		0	Q6IEX1	Silent	SNP	ENST00000357377.3	37	CCDS31548.1																																																																																					0.398	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394708.2		NM_001005489		T	58126036	G	T	58126036	2	4	48	1	0	0	0	0	0	0	0	1	11166	1335	47	3		3	OR5B17	11	58126036	Silent	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	1049162	58126036	76880480	47	3425											
PPFIA1	8500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	70224251	70224251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcaaacttccgggtgaCttcttctatgtcttccccct	5	14	6	16	1	3	1	0	1	3	0	5	1	5	1	4	1	2	1	4	1	2	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr11:70224251C>G	ENST00000253925.7	+	26	3715	c.3500C>G	c.(3499-3501)aCt>aGt	p.T1167S	AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.T1167S|AP000487.5_ENST00000524619.1_RNA|PPFIA1_ENST00000530548.1_3'UTR	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1167					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCCGGGTGACTTCTTCTATG	0.493																																					p.T1167S													.	.			0			c.C3500G												149	134	139					11																	70224251		2200	4294	6494	SO:0001583	missense	8500	exon26			GGGTGACTTCTTC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3500C>G	11.37:g.70224251C>G	ENSP00000253925:p.Thr1167Ser		103	0	0		66	0.42	28	NM_177423	20	0.05	1	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	C	1.248	-0.619454	0.03663	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528853	T;T	0.17528	2.28;2.27	4.72	4.72	0.59763	.	0.216297	0.37857	N	0.001912	T	0.09423	0.0232	N	0.10874	0.06	0.33756	D	0.621252	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.11329	0.004;0.002;0.006	T	0.17319	-1.0373	10	0.19147	T	0.46	.	12.7562	0.57336	0.164:0.836:0.0:0.0	.	664;1167;1167	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	S	1167;1167;664;23	ENSP00000253925:T1167S;ENSP00000374198:T1167S	ENSP00000253925:T1167S	T	+	2	0	PPFIA1	69901899	1.000000	0.71417	0.045000	0.18777	0.101000	0.19017	4.716000	0.61916	2.180000	0.69256	0.561000	0.74099	ACT			0.493	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000393905.1		NM_003626		G	70224251	C	G	70224251	3	3	48	1	0	0	0	0	1	0	0	0	12326	565	20	5	3598	5	PPFIA1	11	70224251	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	12098215	70224251	64782265	48	3426											
MYO7A	4647	mdanderson.org	37	chr11	76919803	76919803	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtggaccaccacggtGccagggaaggatcccatggc	10	5	14	12	1	0	0	0	0	0	0	1	3	1	3	4	5	2	1	4	5	2	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr11:76919803G>T	ENST00000409709.3	+	44	6278	c.6006G>T	c.(6004-6006)gtG>gtT	p.V2002V	MYO7A_ENST00000409619.2_Silent_p.V1953V|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.V1964V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2002	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						CCACCACGGTGCCAGGGAAGG	0.567																																					p.V2002V													.	.			0			c.G6006T												55	65	62					11																	76919803		2067	4183	6250	SO:0001819	synonymous_variant	4647	exon44			CACGGTGCCAGGG	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.6006G>T	11.37:g.76919803G>T			58	0	0		39	0.08	3	NM_000260	8	0	0	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																					0.567	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000328133.1		NM_000260		T	76919803	G	T	76919803	2	4	48	1	0	0	0	0	0	0	0	1	10098	1306	46	2		2	MYO7A	11	76919803	Silent	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	6695552	76919803	58086713	49	3427											
RSF1	51773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	77451960	77451960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgaatttgagattgtcatCaaactgacactcacagaggt	13	12	8	8	0	3	4	3	3	0	2	3	5	3	4	0	1	1	0	0	1	2	3			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr11:77451960C>G	ENST00000308488.6	-	4	696	c.394G>C	c.(394-396)Gat>Cat	p.D132H	RSF1_ENST00000360355.2_Missense_Mutation_p.D101H|RSF1-IT1_ENST00000528233.1_RNA			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	132				D -> G (in Ref. 4; AAG43114). {ECO:0000305}.	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)			AGATTGTCATCAAACTGACAC	0.368																																					p.D132H													.	.			0			c.G394C												77	66	70					11																	77451960		2200	4292	6492	SO:0001583	missense	51773	exon4			TGTCATCAAACTG	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.394G>C	11.37:g.77451960C>G	ENSP00000311513:p.Asp132His		151	0	0		88	0.33	29	NM_016578	13	0.69	9	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.779967|4.779967	0.90195|0.90195	.|.	.|.	ENSG00000048649|ENSG00000048649	ENST00000308488;ENST00000360355;ENST00000528095|ENST00000440064	D;D;T|.	0.94184|.	-3.36;-3.37;0.05|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.56097|.	D|.	0.000033|.	T|.	0.78381|.	0.4274|.	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|.	0.77744|.	-0.2473|.	10|.	0.87932|.	D|.	0|.	-19.8262|-19.8262	19.3332|19.3332	0.94303|0.94303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132|.	Q96T23|.	RSF1_HUMAN|.	H|S	132;101;131|98	ENSP00000311513:D132H;ENSP00000353511:D101H;ENSP00000436408:D131H|.	ENSP00000311513:D132H|.	D|X	-|-	1|2	0|2	RSF1|RSF1	77129608|77129608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.711000|7.711000	0.84669|0.84669	2.667000|2.667000	0.90743|0.90743	0.655000|0.655000	0.94253|0.94253	GAT|TGA			0.368	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318075.2		NM_016578		G	77451960	C	G	77451960	3	3	48	1	0	0	0	0	1	0	0	0	13722	826	29	5	3983	5	RSF1	11	77451960	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	532157	77451960	57554556	50	3428											
ERC1	23085	broad.mit.edu	37	chr12	1292505	1292505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatcctcaggactgaaaaAggactcacggcttaagacac	14	6	10	11	1	2	2	2	1	0	1	3	4	3	4	1	4	0	2	1	4	3	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr12:1292505A>G	ENST00000397203.2	+	11	2481	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R	ERC1_ENST00000543086.3_Missense_Mutation_p.K664R|ERC1_ENST00000355446.5_Missense_Mutation_p.K692R|ERC1_ENST00000546231.2_Missense_Mutation_p.K692R|ERC1_ENST00000360905.4_Missense_Mutation_p.K692R|ERC1_ENST00000589028.1_Missense_Mutation_p.K692R|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	692					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)			GGACTGAAAAAGGACTCACGG	0.363																																					p.K692R													.	ERC1	95		0			c.A2075G												89	88	89					12																	1292505		2203	4300	6503	SO:0001583	missense	23085	exon11			TGAAAAAGGACTC	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.2075A>G	12.37:g.1292505A>G	ENSP00000380386:p.Lys692Arg		512	0.001953125	1		956	0.01	5	NM_178040	127	0	0	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455744	0.26161	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	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	5.37	5.37	0.77165	.	0.093551	0.64402	D	0.000001	T	0.35595	0.0937	L	0.42686	1.345	0.80722	D	1	B;B;B;B;B	0.16166	0.002;0.016;0.003;0.003;0.001	B;B;B;B;B	0.19666	0.011;0.026;0.008;0.008;0.008	T	0.16041	-1.0416	10	0.11485	T	0.65	-32.4174	15.6887	0.77434	1.0:0.0:0.0:0.0	.	440;332;664;664;692	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	664;692;664;664;392;664;664;392;692;692;692;664;440;332	ENSP00000340054:K664R;ENSP00000380386:K692R;ENSP00000438546:K664R;ENSP00000442976:K392R;ENSP00000442739:K692R;ENSP00000347621:K692R;ENSP00000354158:K692R;ENSP00000410064:K664R	ENSP00000299183:K392R	K	+	2	0	ERC1	1162766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.281000	0.72632	2.170000	0.68504	0.460000	0.39030	AAG			0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064		G	1292505	A	G	1292505	3	3	48	1	0	0	0	0	1	0	0	0	5217	72	3	4	2113	4	ERC1	12	1292505	Missense_Mutation	SNP	A	TCGA-2G-AAH8-01A-11D-A42Y-10		1292505	132559390	51	3429											
NRIP2	83714	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	2943815	2943815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgatgcctcaccaagtccTtggaggtgccgagcctcttg	6	10	13	12	1	2	1	1	1	1	0	3	3	3	2	5	3	3	0	5	3	1	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr12:2943815T>A	ENST00000337508.4	-	1	375	c.335A>T	c.(334-336)aAg>aTg	p.K112M		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	112					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CACCAAGTCCTTGGAGGTGCC	0.642																																					p.K112M													.	.			0			c.A335T												50	51	51					12																	2943815		2203	4300	6503	SO:0001583	missense	83714	exon1			AAGTCCTTGGAGG	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.335A>T	12.37:g.2943815T>A	ENSP00000337501:p.Lys112Met		64	0	0		150	0.08	12	NM_031474	2	0	0	A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480206	0.63849	.	.	ENSG00000053702	ENST00000337508;ENST00000546074;ENST00000542990;ENST00000542386	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.70150	0.3191	L	0.57536	1.79	0.38928	D	0.95787	D	0.89917	1.0	D	0.87578	0.998	T	0.73833	-0.3858	9	0.56958	D	0.05	-28.3456	11.5258	0.50580	0.0:0.0:0.0:1.0	.	112	Q9BQI9	NRIP2_HUMAN	M	112;101;62;62	.	ENSP00000337501:K112M	K	-	2	0	NRIP2	2814076	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.741000	0.74837	1.832000	0.53329	0.397000	0.26171	AAG			0.642	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253090.4		NM_031474		A	2943815	T	A	2943815	3	1	48	1	0	0	0	0	1	0	0	0	10670	1609	56	5	534	5	NRIP2	12	2943815	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10	1651310	2943815	130908080	52	3430											
ATN1	1822	mdanderson.org	37	chr12	7045879	7045879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaacacatcaccatcaccaCcagcaacagcaacagcagca	17	3	4	17	0	3	0	3	0	0	0	3	0	3	0	3	0	7	4	3	0	3	0	rs141514883|rs201442555		TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr12:7045879C>A	ENST00000356654.4	+	5	1686	c.1449C>A	c.(1447-1449)caC>caA	p.H483Q	ATN1_ENST00000396684.2_Missense_Mutation_p.H483Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	483	Poly-His.				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)			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						ACCATCACCACcagcaacagc	0.627																																					p.H483Q													.	.			0			c.C1449A							C	GLN/HIS,GLN/HIS	0,4406		0,0,2203	90	103	98		1449,1449	-0.2	1	12	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	ATN1	NM_001007026.1,NM_001940.3	24,24	0,3,6500	AA,AC,CC		0.0349,0.0,0.0231	benign,benign	483/1191,483/1191	7045879	3,13003	2203	4300	6503	SO:0001583	missense	1822	exon5			TCACCACCAGCAA	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.1449C>A	12.37:g.7045879C>A	ENSP00000349076:p.His483Gln		88	0	0		225	0.04	10	NM_001007026	280	0	0	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	5.779	0.328161	0.10956	0.0	3.49E-4	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.39229	1.09;1.09;1.09	3.41	-0.17	0.13335	.	.	.	.	.	T	0.22437	0.0541	N	0.08118	0	0.22266	N	0.999248	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.19289	-1.0310	9	0.20519	T	0.43	.	13.5577	0.61770	0.0:0.5325:0.4674:0.0	.	483;483	Q86V38;P54259	.;ATN1_HUMAN	Q	483;483;483;68	ENSP00000349076:H483Q;ENSP00000379915:H483Q;ENSP00000441744:H483Q	ENSP00000229279:H68Q	H	+	3	2	ATN1	6916140	1.000000	0.71417	0.985000	0.45067	0.188000	0.23474	0.000000	0.12993	0.175000	0.19841	-0.290000	0.09829	CAC	0		0.627	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401948.2		NM_001940		A	7045879	C	A	7045879	3	1	48	1	0	0	0	0	1	0	0	0	1111	506	18	3	1463	3	ATN1	12	7045879	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	4102064	7045879	126806016	53	3431											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	14	8	11	1	2	2	1	1	1	1	4	3	3	2	2	0	3	3	2	0	3	4	rs121913240		TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr12:25380276T>A	ENST00000256078.4	-	3	245	c.182A>T	c.(181-183)cAa>cTa	p.Q61L	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61L|KRAS_ENST00000557334.1_Intron	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)																											p.Q61L	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,+1,429	KRAS_ENST00000256078	1	429	141	Substitution - Missense(141)	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)	c.A182T												109	97	101					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	exon3	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	TCCTCTTGACCTG	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>T	12.37:g.25380276T>A	ENSP00000256078:p.Gln61Leu		116	0	0		225	0.12	26	NM_004985	104	0.06	6	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.889058	0.91814	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83992	-1.79;-1.79	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.92097	0.7495	H	0.96333	3.805	0.80722	D	1	D;P	0.58970	0.984;0.812	P;P	0.53689	0.732;0.69	D	0.94295	0.7532	10	0.72032	D	0.01	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	L	61	ENSP00000308495:Q61L;ENSP00000256078:Q61L	ENSP00000256078:Q61L	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		A	25380276	T	A	25380276	3	1	48	1	0	0	0	0	1	0	0	0	8453	1812	63	5	520	5	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10	18334397	25380276	108471619	54	3432											
KRT75	9119	broad.mit.edu	37	chr12	52827741	52827741	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggatgcctccagggggAcacacggggaagctggggcc	7	6	17	11	1	1	0	0	0	1	0	2	3	2	3	3	7	2	1	3	7	1	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr12:52827741A>G	ENST00000252245.5	-	1	568	c.348T>C	c.(346-348)tgT>tgC	p.C116C		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	116	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTCCAGGGGGACACACGGGGA	0.612																																					p.C116C													.	KRT75	75		0			c.T348C												117	119	119					12																	52827741		2203	4300	6503	SO:0001819	synonymous_variant	9119	exon1			AGGGGGACACACG	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.348T>C	12.37:g.52827741A>G			232	0	0		283	0.02	5	NM_004693	0		0	B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	CCDS8827.1																																																																																					0.612	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404968.1		NM_004693		G	52827741	A	G	52827741	2	3	48	1	0	0	0	0	0	0	0	1	8503	273	10	4		4	KRT75	12	52827741	Silent	SNP	A	TCGA-2G-AAH8-01A-11D-A42Y-10	27447465	52827741	81024154	55	3433											
DCTN2	10540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57926527	57926527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttaatacctgtagccgagCctccacttgatccaaaactg	12	11	6	12	1	0	1	0	1	0	0	2	2	2	1	5	0	4	1	5	0	5	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr12:57926527C>T	ENST00000548249.1	-	10	1108	c.841G>A	c.(841-843)Gct>Act	p.A281T	DCTN2_ENST00000543672.1_Missense_Mutation_p.A286T|DCTN2_ENST00000537439.1_Missense_Mutation_p.A258T|DCTN2_ENST00000434715.3_Missense_Mutation_p.A286T|DCTN2_ENST00000551400.1_5'Flank	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	281					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TGTAGCCGAGCCTCCACTTGA	0.468																																					p.A283T													.	.			0			c.G847A												83	81	81					12																	57926527		1914	4130	6044	SO:0001583	missense	10540	exon10			GCCGAGCCTCCAC	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.841G>A	12.37:g.57926527C>T	ENSP00000447824:p.Ala281Thr		169	0	0		219	0.19	42	NM_001261412	553	0.23	127	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726948	0.89390	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000550086	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.71693	0.3370	L	0.43923	1.385	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	T	0.63283	-0.6672	9	0.16420	T	0.52	-7.8126	18.01	0.89220	0.0:1.0:0.0:0.0	.	281;286;281	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	T	281;286;286;258;281;194;122	.	ENSP00000346785:A281T	A	-	1	0	DCTN2	56212794	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.076000	0.76806	2.868000	0.98415	0.557000	0.71058	GCT			0.468	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407393.2		NM_006400		T	57926527	C	T	57926527	3	4	48	1	0	0	0	0	1	0	0	0	4309	739	26	2	384	2	DCTN2	12	57926527	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	5098786	57926527	75925368	56	3434											
TSPAN19	144448	broad.mit.edu	37	chr12	85408282	85408282	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcacatttctgcatggAttatattcttgatgtttttg	9	19	8	5	0	3	1	1	1	2	0	3	2	3	2	0	2	1	2	0	2	3	7			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr12:85408282A>T	ENST00000532498.2	-	9	811	c.731T>A	c.(730-732)aTc>aAc	p.I244N		NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	244						integral component of membrane (GO:0016021)				ovary(1)	1						TTCTGCATGGATTATATTCTT	0.269																																					p.I244N													.	TSPAN19	23		0			c.T731A												69	67	68					12																	85408282		1798	4056	5854	SO:0001583	missense	144448	exon9			GCATGGATTATAT		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.731T>A	12.37:g.85408282A>T	ENSP00000433816:p.Ile244Asn		463	0	0		454	0.02	8	NM_001100917	0		0		Missense_Mutation	SNP	ENST00000532498.2	37	CCDS44949.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.27|10.27	1.304365|1.304365	0.23736|0.23736	.|.	.|.	ENSG00000231738|ENSG00000231738	ENST00000532498|ENST00000525452	T|.	0.47869|.	0.83|.	3.71|3.71	3.71|3.71	0.42584|0.42584	.|.	.|.	.|.	.|.	.|.	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.08118|0.08118	0|0	0.21020|0.21020	N|N	0.999809|0.999809	D|.	0.69078|.	0.997|.	P|.	0.60789|.	0.879|.	T|T	0.17228|0.17228	-1.0376|-1.0376	9|5	0.42905|.	T|.	0.14|.	.|.	9.3848|9.3848	0.38336|0.38336	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	244|.	P0C672|.	TSN19_HUMAN|.	N|T	244|65	ENSP00000433816:I244N|.	ENSP00000433816:I244N|.	I|S	-|-	2|1	0|0	TSPAN19|TSPAN19	83932413|83932413	0.734000|0.734000	0.28142|0.28142	0.287000|0.287000	0.24848|0.24848	0.002000|0.002000	0.02628|0.02628	3.220000|3.220000	0.51207|0.51207	1.640000|1.640000	0.50565|0.50565	0.449000|0.449000	0.29647|0.29647	ATC|TCC			0.269	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388240.2		NM_001100917		T	85408282	A	T	85408282	3	4	48	1	0	0	0	0	1	0	0	0	16667	333	12	5	19	5	TSPAN19	12	85408282	Missense_Mutation	SNP	A	TCGA-2G-AAH8-01A-11D-A42Y-10	27481755	85408282	48443613	57	3435											
RAN	5901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	131357394	131357394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaacagcttgtattggttgGtgatggtggtactggaaaaa	11	13	13	4	0	1	1	1	1	0	0	1	2	1	2	0	5	3	4	0	5	5	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr12:131357394G>A	ENST00000543796.1	+	3	308	c.50G>A	c.(49-51)gGt>gAt	p.G17D	RAN_ENST00000541630.1_5'UTR|RAN_ENST00000254675.3_5'UTR|RAN_ENST00000392367.3_Missense_Mutation_p.G17D|RAN_ENST00000392369.2_Missense_Mutation_p.G17D			P62826	RAN_HUMAN	RAN, member RAS oncogene family	17					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		GTATTGGTTGGTGATGGTGGT	0.428																																					p.G17D													.	.			0			c.G50A												332	326	328					12																	131357394		2203	4300	6503	SO:0001583	missense	5901	exon3			TGGTTGGTGATGG	M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.50G>A	12.37:g.131357394G>A	ENSP00000446215:p.Gly17Asp		155	0	0		244	0.18	43	NM_006325	2292	0.22	502	A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	ENST00000543796.1	37	CCDS9271.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651721	0.67472	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000392369;ENST00000535090;ENST00000392367	D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89	3.52	3.52	0.40303	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.99384	0.9783	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98124	1.0427	10	0.87932	D	0	-12.6421	14.3772	0.66886	0.0:0.0:1.0:0.0	.	17;17	A8K3Z8;P62826	.;RAN_HUMAN	D	17;35;17;13;17	ENSP00000446215:G17D;ENSP00000396127:G35D;ENSP00000376176:G17D;ENSP00000444042:G13D;ENSP00000376174:G17D	ENSP00000376174:G17D	G	+	2	0	RAN	129923347	1.000000	0.71417	0.572000	0.28498	0.320000	0.28249	8.558000	0.90704	1.682000	0.51000	0.436000	0.28706	GGT			0.428	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259441.2		NM_006325		A	131357394	G	A	131357394	3	1	48	1	0	0	0	0	1	0	0	0	13047	1261	44	3	56	3	RAN	12	131357394	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	45949112	131357394	2494501	58	3436											
MYO16	23026	mdanderson.org	37	chr13	109772789	109772789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtgcctacagttgcaGagaaaaattataacctgcca	14	11	8	8	0	0	1	0	0	0	1	0	3	0	1	3	0	5	2	3	0	5	5			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr13:109772789G>T	ENST00000357550.2	+	28	3485	c.3444G>T	c.(3442-3444)caG>caT	p.Q1148H	MYO16_ENST00000457511.2_Missense_Mutation_p.Q660H|MYO16_ENST00000356711.2_Missense_Mutation_p.Q1148H	NM_001198950.1	NP_001185879.1			myosin XVI									p.Q1148H(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACAGTTGCAGAGAAAAATTA	0.353																																					p.Q1170H													MYO16,NS,carcinoma,0,1	MYO16	0	1	1	Substitution - Missense(1)	lung(1)	c.G3510T												113	108	110					13																	109772789		2203	4300	6503	SO:0001583	missense	23026	exon29			GTTGCAGAGAAAA		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3444G>T	13.37:g.109772789G>T	ENSP00000350160:p.Gln1148His		66	0	0		45	0.07	3	NM_001198950	8	0	0		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	7.684	0.689547	0.14973	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.95238	-3.65;-3.65;-3.65	5.38	4.52	0.55395	.	0.000000	0.38720	U	0.001588	D	0.88020	0.6325	N	0.17082	0.46	0.40800	D	0.983335	B;B	0.22414	0.069;0.041	B;B	0.23419	0.046;0.021	T	0.83015	-0.0170	9	.	.	.	.	12.2943	0.54836	0.0825:0.0:0.9175:0.0	.	660;1148	F8W883;Q9Y6X6	.;MYO16_HUMAN	H	1148;1148;660	ENSP00000349145:Q1148H;ENSP00000350160:Q1148H;ENSP00000401633:Q660H	.	Q	+	3	2	MYO16	108570790	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.111000	0.41883	1.227000	0.43598	0.650000	0.86243	CAG			0.353	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045746.1		NM_015011		T	109772789	G	T	109772789	3	4	48	1	0	0	0	0	1	0	0	0	10080	933	33	3	3554	3	MYO16	13	109772789	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		109772789	5397089	59	3437											
TMEM90A	646658	broad.mit.edu	37	chr14	74876236	74876236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctccccaggaggcagCtgggccggtaccaggcctcc	5	7	13	16	1	1	0	0	0	1	0	4	1	3	1	6	5	2	3	6	5	1	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr14:74876236C>A	ENST00000554823.1	-	1	273	c.212G>T	c.(211-213)aGc>aTc	p.S71I	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.S71I			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	71					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CAGGAGGCAGCTGGGCCGGTA	0.682																																					p.S71I													.	SYNDIG1L	24		0			c.G212T												23	26	25					14																	74876236		1867	4092	5959	SO:0001583	missense	646658	exon2			AGGCAGCTGGGCC		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.212G>T	14.37:g.74876236C>A	ENSP00000450439:p.Ser71Ile		79	0	0		106	0.05	5	NM_001105579	0		0		Missense_Mutation	SNP	ENST00000554823.1	37	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492063	0.44352	.	.	ENSG00000183379	ENST00000331628;ENST00000554823;ENST00000554953	D;D	0.95377	-3.69;-3.69	4.44	0.0747	0.14396	.	0.160430	0.53938	D	0.000049	D	0.89136	0.6629	L	0.29908	0.895	0.27297	N	0.957695	B	0.25719	0.132	B	0.24701	0.055	T	0.81865	-0.0736	10	0.87932	D	0	-8.4229	5.0384	0.14447	0.0:0.4319:0.3101:0.2579	.	71	A6NDD5	SYN1L_HUMAN	I	71	ENSP00000331474:S71I;ENSP00000450439:S71I	ENSP00000331474:S71I	S	-	2	0	SYNDIG1L	73945989	0.998000	0.40836	0.999000	0.59377	0.961000	0.63080	0.518000	0.22847	0.121000	0.18284	0.467000	0.42956	AGC			0.682	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412341.1		XM_938515		A	74876236	C	A	74876236	3	1	48	1	0	0	0	0	1	0	0	0	16241	797	28	2	516	2	TMEM90A	14	74876236	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10		74876236	32473304	60	3438											
POMT2	29954	mdanderson.org	37	chr14	77769282	77769282	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacagagtgaggcatccCgtgtctgaaaaacatgagct	12	8	13	8	1	1	4	0	3	1	1	2	5	2	5	1	2	2	2	1	2	2	0	rs562425016		TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr14:77769282C>A	ENST00000261534.4	-	5	754	c.552G>T	c.(550-552)acG>acT	p.T184T	POMT2_ENST00000556880.1_5'UTR	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	184			T -> M (in MDDGC2). {ECO:0000269|PubMed:17878207, ECO:0000269|PubMed:17923109}.			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)		TGAGGCATCCCGTGTCTGAAA	0.532																																					p.T184T													.	.			0			c.G552T												83	72	76					14																	77769282		2203	4300	6503	SO:0001819	synonymous_variant	29954	exon5			GCATCCCGTGTCT	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.552G>T	14.37:g.77769282C>A			52	0	0		51	0.06	3	NM_013382	28	0	0	Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	CCDS9857.1																																																																																					0.532	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414155.1		NM_013382		A	77769282	C	A	77769282	2	1	48	1	0	0	0	0	0	0	0	1	12263	639	23	1		1	POMT2	14	77769282	Silent	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	2893046	77769282	29580258	61	3439											
AKAP13	11214	broad.mit.edu	37	chr15	86064728	86064728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgatgtagtgttttacttgGtatttttgggttccaccctc	6	19	9	7	0	0	1	0	1	0	0	2	1	1	1	2	2	1	4	2	2	3	8			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr15:86064728G>T	ENST00000394518.2	+	3	198	c.103G>T	c.(103-105)Gta>Tta	p.V35L	AKAP13_ENST00000560302.1_Missense_Mutation_p.V35L|AKAP13_ENST00000361243.2_Missense_Mutation_p.V35L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	35					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						GTTTTACTTGGTATTTTTGGG	0.423																																					p.V35L	Melanoma(94;603 1453 3280 32295 32951)												AKAP13_ENST00000394518,NS,carcinoma,-2,2	AKAP13	394	2	0			c.G103T												396	348	364					15																	86064728		2202	4299	6501	SO:0001583	missense	11214	exon3			TACTTGGTATTTT	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.103G>T	15.37:g.86064728G>T	ENSP00000378026:p.Val35Leu		289	0	0		391	0.01	4	NM_007200	5	0	0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157544	0.38119	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.60672	0.17;0.17	5.52	4.59	0.56863	.	.	.	.	.	T	0.36166	0.0957	N	0.11201	0.11	0.80722	D	1	P;P;B	0.46277	0.802;0.875;0.013	B;B;B	0.40825	0.184;0.341;0.019	T	0.33650	-0.9860	9	0.72032	D	0.01	.	7.5201	0.27622	0.0909:0.1677:0.7414:0.0	.	35;35;35	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	L	35;35;34;34	ENSP00000354718:V35L;ENSP00000378026:V35L	ENSP00000354718:V35L	V	+	1	0	AKAP13	83865732	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	1.509000	0.35780	1.437000	0.47472	0.591000	0.81541	GTA			0.423	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000417318.1		NM_007200		T	86064728	G	T	86064728	3	4	48	1	0	0	0	0	1	0	0	0	449	1261	44	3	109	3	AKAP13	15	86064728	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		86064728	16466664	62	3440											
ANPEP	290	broad.mit.edu	37	chr15	90328669	90328669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcgtcttctccagggcttGctccagggcccgggtgcctg	2	12	13	14	2	2	0	0	0	2	0	5	0	3	0	4	3	2	2	4	3	0	3			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr15:90328669G>T	ENST00000300060.6	-	21	3128	c.2815C>A	c.(2815-2817)Caa>Aaa	p.Q939K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	939	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCCAGGGCTTGCTCCAGGGCC	0.547																																					p.Q939K	NSCLC(30;827 977 2459 19669 26125)												.	ANPEP	124		0			c.C2815A												199	184	189					15																	90328669		2200	4299	6499	SO:0001583	missense	290	exon21			GGGCTTGCTCCAG	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2815C>A	15.37:g.90328669G>T	ENSP00000300060:p.Gln939Lys		162	0	0		206	0.03	6	NM_001150	82	0	0	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507633	0.85282	.	.	ENSG00000166825	ENST00000300060	T	0.07908	3.15	5.31	5.31	0.75309	.	0.125811	0.56097	D	0.000038	T	0.36799	0.0980	M	0.90542	3.125	0.58432	D	0.999996	D	0.76494	0.999	D	0.81914	0.995	T	0.33471	-0.9867	10	0.72032	D	0.01	.	16.5192	0.84309	0.0:0.0:1.0:0.0	.	939	P15144	AMPN_HUMAN	K	939	ENSP00000300060:Q939K	ENSP00000300060:Q939K	Q	-	1	0	ANPEP	88129673	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.529000	0.81952	2.763000	0.94921	0.650000	0.86243	CAA			0.547	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313425.1				T	90328669	G	T	90328669	3	4	48	1	0	0	0	0	1	0	0	0	710	1328	46	2	92	2	ANPEP	15	90328669	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	4263941	90328669	12202723	63	3441											
IFT140	9742	mdanderson.org	37	chr16	1561124	1561124	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggccaagggaagccgccGccgcatctcctccaggaatc	8	6	12	15	3	1	0	0	0	1	0	4	2	2	2	6	3	1	2	6	3	3	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr16:1561124G>T	ENST00000426508.2	-	31	4573	c.4210C>A	c.(4210-4212)Cgg>Agg	p.R1404R	IFT140_ENST00000361339.5_Silent_p.R598R|LA16c-385E7.1_ENST00000566922.1_lincRNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1404					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)				GGAAGCCGCCGCCGCATCTCC	0.657																																					p.R1404R													.	.			0			c.C4210A												21	23	22					16																	1561124		2196	4299	6495	SO:0001819	synonymous_variant	9742	exon31			GCCGCCGCCGCAT	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.4210C>A	16.37:g.1561124G>T			52	0	0		60	0.05	3	NM_014714	9	0	0	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																					0.657	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250438.2		NM_014714		T	1561124	G	T	1561124	2	4	48	1	0	0	0	0	0	0	0	1	7571	1086	38	1		1	IFT140	16	1561124	Silent	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		1561124	88793629	64	3442											
TSC2	7249	mdanderson.org	37	chr16	2124247	2124247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcctcatccaccgctgtgCcagccagtgcgtcgtggcct	4	8	13	16	3	1	0	1	0	0	0	3	0	2	0	6	2	3	1	6	2	0	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr16:2124247C>T	ENST00000219476.3	+	22	3032	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	TSC2_ENST00000382538.6_Missense_Mutation_p.A752V|TSC2_ENST00000439673.2_Missense_Mutation_p.A764V|TSC2_ENST00000401874.2_Missense_Mutation_p.A801V|TSC2_ENST00000353929.4_Missense_Mutation_p.A801V|TSC2_ENST00000350773.4_Missense_Mutation_p.A801V|TSC2_ENST00000568454.1_Missense_Mutation_p.A812V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	801					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.E793fs*9(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CACCGCTGTGCCAGCCAGTGC	0.627			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.A801V			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	.	.			1	Deletion - Frameshift(1)	pancreas(1)	c.C2402T												87	67	74					16																	2124247		2198	4299	6497	SO:0001583	missense	7249	exon22	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	GCTGTGCCAGCCA	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2402C>T	16.37:g.2124247C>T	ENSP00000219476:p.Ala801Val		67	0	0		47	0.06	3	NM_001114382	54	0	0	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834285	0.91036	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.35	5.35	0.76521	Tuberin-type domain (1);	0.129318	0.51477	D	0.000089	D	0.93334	0.7875	M	0.67700	2.07	0.58432	D	0.999995	D;P;D;D;D;D	0.76494	0.977;0.941;0.971;0.971;0.997;0.999	D;P;P;P;D;D	0.79108	0.926;0.734;0.853;0.792;0.97;0.992	D	0.93743	0.7052	10	0.72032	D	0.01	-29.8225	14.6411	0.68726	0.0:0.8547:0.1453:0.0	.	752;764;801;801;801;801	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	V	801;801;801;764;752;801	ENSP00000219476:A801V;ENSP00000384468:A801V;ENSP00000248099:A801V;ENSP00000399232:A764V;ENSP00000371978:A752V;ENSP00000344383:A801V	ENSP00000219476:A801V	A	+	2	0	TSC2	2064248	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.946000	0.70234	2.500000	0.84329	0.313000	0.20887	GCC			0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250657.2		NM_000548		T	2124247	C	T	2124247	3	4	48	1	0	0	0	0	1	0	0	0	16630	739	26	2	2484	2	TSC2	16	2124247	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	563123	2124247	88230506	65	3443											
ACSM2B	348158	broad.mit.edu	37	chr16	20570613	20570613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcactcggggcagcaTcactgccacacgatccccac	9	5	9	18	2	2	0	2	0	0	0	4	1	3	0	3	3	2	3	3	3	0	0	rs374648082		TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr16:20570613T>C	ENST00000329697.6	-	3	502	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	ACSM2B_ENST00000565322.1_Missense_Mutation_p.M33V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M112V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.M112V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	112					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGGGGCAGCATCACTGCCACA	0.552													t|||	1	0.000199681	8e-04	0	5008	,	,		16639	0		0	False		,,,				2504	0				p.M112V													ACSM2B,NS,carcinoma,0,1	ACSM2B	121	1	0			c.A334G												80	64	69					16																	20570613		2201	4300	6501	SO:0001583	missense	348158	exon4			GCAGCATCACTGC	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.334A>G	16.37:g.20570613T>C	ENSP00000327453:p.Met112Val		209	0.004784689	1		208	0.03	7	NM_182617	0		0	Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	t	0.019	-1.457556	0.01071	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.40225	1.04;1.04	3.51	1.34	0.21922	AMP-dependent synthetase/ligase (1);	0.418948	0.17928	N	0.157273	T	0.15565	0.0375	N	0.04373	-0.215	0.20975	N	0.999816	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20405	-1.0276	10	0.14656	T	0.56	-12.621	4.4767	0.11746	0.0:0.499:0.0:0.501	.	112;112	A8K051;Q68CK6	.;ACS2B_HUMAN	V	112	ENSP00000327453:M112V;ENSP00000390378:M112V	ENSP00000327453:M112V	M	-	1	0	ACSM2B	20478114	0.087000	0.21565	0.873000	0.34254	0.106000	0.19336	0.278000	0.18753	0.682000	0.31407	-0.190000	0.12839	ATG			0.552	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254417.2		NM_182617		C	20570613	T	C	20570613	3	2	48	1	0	0	0	0	1	0	0	0	184	1435	50	4	1447	4	ACSM2B	16	20570613	Missense_Mutation	SNP	T	TCGA-2G-AAH8-01A-11D-A42Y-10	18446366	20570613	69784140	66	3444											
KIAA0895L	653319	mdanderson.org	37	chr16	67212358	67212358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccgcagccggccctccgcGttgtgccacggctggcgcgc	3	6	14	18	7	0	0	0	0	0	0	1	0	1	0	5	3	3	3	5	3	1	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr16:67212358G>T	ENST00000290881.7	-	6	1823	c.897C>A	c.(895-897)aaC>aaA	p.N299K	KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.N299K|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.N299K			Q68EN5	K895L_HUMAN	KIAA0895-like	299										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGCCCTCCGCGTTGTGCCACG	0.751																																					p.N299K													.	.			0			c.C897A												2	3	3					16																	67212358		1501	3329	4830	SO:0001583	missense	653319	exon5			CTCCGCGTTGTGC	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.897C>A	16.37:g.67212358G>T	ENSP00000290881:p.Asn299Lys		20	0	0		11	0.18	2	NM_001040715	5	0	0	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448826	0.26074	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.54	-1.04	0.10068	.	0.292904	0.42053	D	0.000764	T	0.26011	0.0634	N	0.25890	0.77	0.20975	N	0.999815	B;B;B	0.32396	0.117;0.152;0.369	B;B;B	0.34093	0.066;0.175;0.066	T	0.15636	-1.0430	9	0.48119	T	0.1	-10.8862	8.6014	0.33747	0.5428:0.0:0.4572:0.0	.	299;299;144	Q68EN5-2;Q68EN5;Q68EN5-3	.;K895L_HUMAN;.	K	299	.	ENSP00000290881:N299K	N	-	3	2	KIAA0895L	65769859	0.000000	0.05858	0.737000	0.30932	0.038000	0.13279	0.277000	0.18734	-0.225000	0.09913	-0.225000	0.12378	AAC			0.751	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421193.4		NM_001040715		T	67212358	G	T	67212358	3	4	48	1	0	0	0	0	1	0	0	0	8213	1136	40	1	530	1	KIAA0895L	16	67212358	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	46641745	67212358	23142395	67	3445											
SMG6	23293	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	2200556	2200556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcttgcgtaatggcttgCtgcgaatggcaagaccatcc	8	11	11	11	2	1	1	0	0	1	1	2	2	2	1	2	2	3	4	2	2	3	3			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr17:2200556C>T	ENST00000263073.6	-	4	2182	c.2132G>A	c.(2131-2133)aGc>aAc	p.S711N	SMG6_ENST00000544865.1_Missense_Mutation_p.S680N	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	711					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						TAATGGCTTGCTGCGAATGGC	0.383																																					p.S711N	Melanoma(59;28 1088 11621 25887 46638 50814)												.	.			0			c.G2132A												114	117	116					17																	2200556		2203	4300	6503	SO:0001583	missense	23293	exon4			GGCTTGCTGCGAA	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.2132G>A	17.37:g.2200556C>T	ENSP00000263073:p.Ser711Asn		119	0	0		110	0.18	20	NM_017575	51	0.35	18	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306927	0.60305	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.18960	2.18;2.18	5.08	4.1	0.47936	Telomerase activating protein Est1 (1);	0.162225	0.56097	D	0.000025	T	0.22975	0.0555	L	0.48642	1.525	0.42346	D	0.992356	P	0.48911	0.917	P	0.45577	0.486	T	0.02683	-1.1124	10	0.18276	T	0.48	-1.3701	14.7911	0.69844	0.1457:0.8543:0.0:0.0	.	711	Q86US8	EST1A_HUMAN	N	711;680	ENSP00000263073:S711N;ENSP00000443920:S680N	ENSP00000263073:S711N	S	-	2	0	SMG6	2147306	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.949000	0.56668	1.088000	0.41272	0.455000	0.32223	AGC			0.383	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437826.3				T	2200556	C	T	2200556	3	4	48	1	0	0	0	0	1	0	0	0	14820	797	28	2	2191	2	SMG6	17	2200556	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10		2200556	78994654	68	3446											
PITPNM3	83394	mdanderson.org	37	chr17	6371655	6371655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgttcacgctctcatagcGcattacctagccaagagccg	10	9	9	13	3	2	1	2	0	1	1	3	2	2	1	3	0	4	3	3	0	4	4	rs150769456		TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr17:6371655G>T	ENST00000262483.8	-	14	1867	c.1780C>A	c.(1780-1782)Cgc>Agc	p.R594S	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R558S	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	594	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				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)		CTCTCATAGCGCATTACCTAG	0.627																																					p.R594S													PITPNM3,NS,carcinoma,+1,1	PITPNM3	1	1	0			c.C1780A												69	70	70					17																	6371655		2203	4300	6503	SO:0001583	missense	83394	exon14			CATAGCGCATTAC	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.1780C>A	17.37:g.6371655G>T	ENSP00000262483:p.Arg594Ser		61	0	0		54	0.06	3	NM_031220	4	0	0	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509825	0.44660	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.46451	0.87;0.88	4.89	1.2	0.21068	DDHD (2);	0.411149	0.24960	N	0.034233	T	0.45357	0.1338	M	0.72353	2.195	0.47374	D	0.9994	P;P	0.49862	0.929;0.846	P;B	0.48982	0.597;0.392	T	0.45440	-0.9261	10	0.51188	T	0.08	.	7.5413	0.27740	0.0:0.1457:0.4184:0.4358	.	558;594	F8WEW5;Q9BZ71	.;PITM3_HUMAN	S	594;558	ENSP00000262483:R594S;ENSP00000407882:R558S	ENSP00000262483:R594S	R	-	1	0	PITPNM3	6312379	1.000000	0.71417	0.998000	0.56505	0.071000	0.16799	1.242000	0.32755	0.997000	0.38969	0.448000	0.29417	CGC			0.627	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000219824.2		NM_031220		T	6371655	G	T	6371655	3	4	48	1	0	0	0	0	1	0	0	0	11969	1087	38	1	1172	1	PITPNM3	17	6371655	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	4171099	6371655	74823555	69	3447											
PTPN2	5771	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	12830954	12830954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcaccgattctttctcCacaatgcggttcagcatgac	9	13	6	13	2	4	1	2	1	2	0	5	2	4	1	2	1	3	2	2	1	2	4			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr18:12830954C>T	ENST00000309660.5	-	4	441	c.348G>A	c.(346-348)gtG>gtA	p.V116V	PTPN2_ENST00000591497.1_Silent_p.V87V|PTPN2_ENST00000353319.4_Silent_p.V116V|PTPN2_ENST00000327283.3_Silent_p.V116V|PTPN2_ENST00000591115.1_Silent_p.V116V	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	116	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)				ATTCTTTCTCCACAATGCGGT	0.393																																					p.V116V													.	PTPN2	37		0			c.G348A												64	62	63					18																	12830954		2203	4300	6503	SO:0001819	synonymous_variant	5771	exon4			TTTCTCCACAATG	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.348G>A	18.37:g.12830954C>T			176	0	0		144	0.04	6	NM_001207013	187	0	0	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Silent	SNP	ENST00000309660.5	37	CCDS11865.1																																																																																					0.393	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000254613.3		NM_002828, NM_080422, NM_080423		T	12830954	C	T	12830954	2	4	48	1	0	0	0	0	0	0	0	1	12806	581	21	3		3	PTPN2	18	12830954	Silent	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10		12830954	65246294	70	3448											
SETBP1	26040	broad.mit.edu	37	chr18	42531523	42531523	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgccacccccatccGaagaacccaaaacagccatc	14	3	6	18	1	0	2	0	0	0	2	2	3	1	2	6	0	5	1	6	0	4	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr18:42531523G>T	ENST00000282030.5	+	4	2514	c.2218G>T	c.(2218-2220)Gaa>Taa	p.E740*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	740						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)		ACCCCCATCCGAAGAACCCAA	0.552									Schinzel-Giedion syndrome																												p.E740X													.	SETBP1	577		0			c.G2218T												37	42	40					18																	42531523		2203	4300	6503	SO:0001587	stop_gained	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	CCATCCGAAGAAC	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.2218G>T	18.37:g.42531523G>T	ENSP00000282030:p.Glu740*		133	0.007518797	1		121	0.03	4	NM_015559	6	0	0	A6H8W5|Q6P6C3|Q9UEF3	Nonsense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	40	8.510642	0.98843	.	.	ENSG00000152217	ENST00000282030	.	.	.	6.17	6.17	0.99709	.	0.122601	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	.	.	.	X	740	.	ENSP00000282030:E740X	E	+	1	0	SETBP1	40785521	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.070000	0.64376	2.941000	0.99782	0.655000	0.94253	GAA			0.552	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255854.4		NM_001130110		T	42531523	G	T	42531523	4	4	48	1	0	0	0	0	0	1	0	0	14152	1059	37	1	2421	1	SETBP1	18	42531523	Nonsense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	29700569	42531523	35545725	71	3449											
UHRF1	29128	broad.mit.edu	37	chr19	4960773	4960773	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagcctctgcagaccGtcctcaaccagctcttcccc	8	8	6	19	1	3	2	1	1	2	1	5	2	5	2	7	0	5	2	7	0	2	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr19:4960773G>A	ENST00000592666.1	+	0	2916							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCTGCAGACCGTCCTCAACCA	0.612																																					.													.	UHRF1	56		0			.												11	13	13					19																	4960773		1849	4048	5897			29128	.			CAGACCGTCCTCA	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4960773G>A			395	0	0		574	0.01	6	.	4	0	0	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	G	1.015	-0.686587	0.03328	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.43	-2.58	0.06228	Zinc finger, RING/FYVE/PHD-type (1);	0.437398	0.22834	N	0.055076	T	0.14227	0.0344	.	.	.	0.23834	N	0.996716	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.001	T	0.41610	-0.9499	7	0.02654	T	1	-37.4898	6.9817	0.24706	0.5298:0.2106:0.2597:0.0	.	794;781	Q2HIX7;Q96T88	.;UHRF1_HUMAN	I	780;395;780;780;793	.	ENSP00000262952:V780I	V	+	1	0	UHRF1	4911773	0.000000	0.05858	0.024000	0.17045	0.537000	0.34900	-0.174000	0.09839	-0.195000	0.10382	-0.367000	0.07326	GTC			0.612	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript		OTTHUMT00000450444.1		NM_001048201		A	4960773	G	A	4960773	1	1	48	0	1	0	0	0	0	0	0	0	16991	1145	40	1		1	UHRF1	19	4960773	RNA	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		4960773	54168210	72	3450											
RFX1	5989	broad.mit.edu	37	chr19	14104595	14104595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctgggcttgtggcggggCctgtggcggctgggatggtg	1	9	24	7	2	0	0	0	0	0	0	0	1	0	1	1	9	0	3	1	9	0	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr19:14104595C>G	ENST00000254325.4	-	2	295	c.61G>C	c.(61-63)Gcc>Ccc	p.A21P		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	21					immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tgtggcggggcctgtggcggc	0.647																																					p.A21P													.	RFX1	63		0			c.G61C												10	15	13					19																	14104595		1724	3803	5527	SO:0001583	missense	5989	exon2			GCGGGGCCTGTGG		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.61G>C	19.37:g.14104595C>G	ENSP00000254325:p.Ala21Pro		62	0.2580645161	16		97	0.29	28	NM_002918	3	0	0		Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293181	0.40594	.	.	ENSG00000132005	ENST00000254325	T	0.59906	0.23	4.92	4.92	0.64577	.	3.276640	0.01489	N	0.016981	T	0.60051	0.2239	N	0.12182	0.205	0.29892	N	0.825094	D	0.65815	0.995	P	0.57911	0.829	T	0.58929	-0.7549	10	0.25106	T	0.35	-22.5938	14.0018	0.64437	0.0:1.0:0.0:0.0	.	21	P22670	RFX1_HUMAN	P	21	ENSP00000254325:A21P	ENSP00000254325:A21P	A	-	1	0	RFX1	13965595	1.000000	0.71417	0.999000	0.59377	0.242000	0.25591	1.468000	0.35332	2.451000	0.82905	0.655000	0.94253	GCC			0.647	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458510.1		NM_002918		G	14104595	C	G	14104595	3	3	48	1	0	0	0	0	1	0	0	0	13285	739	26	5	2958	5	RFX1	19	14104595	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	9143822	14104595	45024388	73	3451											
U2AF1L4	199746	mdanderson.org	37	chr19	36233572	36233572	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgaggagaggtcctgcCaggaacatctgtccctgttg	7	11	13	10	0	1	2	0	1	1	1	3	4	3	3	3	3	2	2	3	3	1	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr19:36233572C>T	ENST00000412391.2	-	0	724				U2AF1L4_ENST00000378975.3_3'UTR|PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000587101.1_5'Flank|PSENEN_ENST00000587708.2_5'Flank|IGFLR1_ENST00000344990.3_5'Flank|PSENEN_ENST00000591949.1_5'Flank|IGFLR1_ENST00000592889.1_5'Flank|IGFLR1_ENST00000592537.1_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000292879.5_Nonsense_Mutation_p.W179*|IGFLR1_ENST00000246532.1_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	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)			GAGGTCCTGCCAGGAACATCT	0.592																																					p.W179X													.	.			0			c.G536A												85	97	93					19																	36233572		2203	4300	6503	SO:0001624	3_prime_UTR_variant	199746	exon6			TCCTGCCAGGAAC	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"RNA binding motif (RRM) containing"	23020	protein-coding gene	gene with protein product		601080	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 3", "U2 small nuclear RNA auxiliary factor 1-like 3"	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.*48G>A	19.37:g.36233572C>T			41	0	0		53	0.08	4	NM_144987	52	0	0	A6NKI8|Q56UU3	Nonsense_Mutation	SNP	ENST00000412391.2	37		.	.	.	.	.	.	.	.	.	.	C	14.93	2.683695	0.47991	.	.	ENSG00000161265	ENST00000292879	.	.	.	4.97	3.94	0.45596	.	2.063240	0.02287	N	0.069948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4176	0.49962	0.0:0.9098:0.0:0.0902	.	.	.	.	X	179	.	ENSP00000292879:W179X	W	-	2	0	U2AF1L4	40925412	0.000000	0.05858	0.523000	0.27875	0.013000	0.08279	-0.140000	0.10342	1.210000	0.43336	0.563000	0.77884	TGG			0.592	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_144987		T	36233572	C	T	36233572	1	4	48	0	1	0	0	0	0	0	0	0	16846	595	21	3		3	U2AF1L4	19	36233572	3'UTR	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	22128977	36233572	22895411	74	3452											
ZNF526	116115	mdanderson.org	37	chr19	42730029	42730029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtgcgcaaccacctgCggacacacacgggtgagagg	10	4	13	14	4	0	1	0	1	0	1	1	3	1	2	3	3	3	1	3	3	1	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr19:42730029C>T	ENST00000301215.3	+	3	1699	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	492					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)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CAACCACCTGCGGACACACAC	0.637																																					p.R492W													.	.			0			c.C1474T												78	79	79					19																	42730029		2203	4300	6503	SO:0001583	missense	116115	exon3			CACCTGCGGACAC	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1474C>T	19.37:g.42730029C>T	ENSP00000301215:p.Arg492Trp		82	0	0		89	0.04	4	NM_133444	74	0.01	1	B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944736	0.73672	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.25579	1.79	4.79	3.74	0.42951	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000006	T	0.55097	0.1899	M	0.86420	2.815	0.45883	D	0.998731	D	0.89917	1.0	D	0.91635	0.999	T	0.64984	-0.6278	10	0.87932	D	0	-17.1122	13.666	0.62396	0.1562:0.8438:0.0:0.0	.	492	Q8TF50	ZN526_HUMAN	W	348;492	ENSP00000301215:R492W	ENSP00000301215:R492W	R	+	1	2	ZNF526	47421869	0.994000	0.37717	0.997000	0.53966	0.969000	0.65631	3.185000	0.50934	1.358000	0.45922	-0.188000	0.12872	CGG			0.637	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463681.2		XM_057401		T	42730029	C	T	42730029	3	4	48	1	0	0	0	0	1	0	0	0	17990	759	27	1	1476	1	ZNF526	19	42730029	Missense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	6496457	42730029	16398954	75	3453											
SPHK2	56848	mdanderson.org	37	chr19	49129574	49129574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagcgctgggccactGccctcacctgtctgctccga	5	7	11	18	2	2	0	1	0	1	0	3	1	3	0	5	2	3	2	5	2	0	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr19:49129574G>T	ENST00000245222.4	+	3	832	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S	SPHK2_ENST00000340932.3_Missense_Mutation_p.A120S|SPHK2_ENST00000601712.1_Missense_Mutation_p.A120S|SPHK2_ENST00000443164.1_Missense_Mutation_p.A218S|AC022154.7_ENST00000598735.1_RNA|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000599029.1_Missense_Mutation_p.A120S|SPHK2_ENST00000598088.1_Missense_Mutation_p.A156S|SPHK2_ENST00000600537.1_Missense_Mutation_p.A97S|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599748.1_Missense_Mutation_p.A120S	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	156	Required for binding to sulfatide and phosphoinositides and for membrane localization.				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)		CTGGGCCACTGCCCTCACCTG	0.701																																					p.A156S													.	.			0			c.G466T												7	8	8					19																	49129574		2012	3962	5974	SO:0001583	missense	56848	exon3			GCCACTGCCCTCA	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.466G>T	19.37:g.49129574G>T	ENSP00000245222:p.Ala156Ser		9	0	0		13	0.15	2	NM_020126	14	0	0	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	9.348	1.064807	0.20067	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.28454	1.94;1.64;1.61	3.77	1.55	0.23275	.	0.064364	0.64402	D	0.000011	T	0.23688	0.0573	L	0.45137	1.4	0.33274	D	0.561436	B;P;P;P	0.48089	0.145;0.78;0.905;0.518	B;B;B;B	0.44044	0.07;0.265;0.439;0.197	T	0.31081	-0.9956	10	0.26408	T	0.33	-47.0563	6.9314	0.24444	0.2474:0.0:0.7526:0.0	.	97;218;120;156	B4DU87;A0T4C8;Q9NRA0-3;Q9NRA0	.;.;.;SPHK2_HUMAN	S	156;129;120;218	ENSP00000245222:A156S;ENSP00000341091:A120S;ENSP00000413369:A218S	ENSP00000245222:A156S	A	+	1	0	SPHK2	53821386	0.347000	0.24853	0.336000	0.25522	0.496000	0.33645	2.401000	0.44513	0.343000	0.23821	0.563000	0.77884	GCC			0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000466153.1				T	49129574	G	T	49129574	3	4	48	1	0	0	0	0	1	0	0	0	15070	1319	46	2	472	2	SPHK2	19	49129574	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	6399545	49129574	9999409	76	3454											
NCOA6	23054	broad.mit.edu	37	chr20	33337630	33337630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgggctgggccctggtgGccgcaggacctgtccctgaa	4	8	17	12	1	0	1	0	1	0	0	1	2	1	2	4	5	0	2	4	5	1	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr20:33337630G>T	ENST00000374796.2	-	10	4938	c.2368C>A	c.(2368-2370)Cca>Aca	p.P790T	NCOA6_ENST00000359003.2_Missense_Mutation_p.P790T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	790	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-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						GGCCCTGGTGGCCGCAGGACC	0.542																																					p.P790T													.	NCOA6	219		0			c.C2368A												74	61	65					20																	33337630		2203	4300	6503	SO:0001583	missense	23054	exon9			CTGGTGGCCGCAG	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.2368C>A	20.37:g.33337630G>T	ENSP00000363929:p.Pro790Thr		104	0.0096153846	1		114	0.05	6	NM_014071	43	0	0	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329858	0.60743	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23754	1.89;1.89	5.24	4.27	0.50696	.	0.172191	0.41294	N	0.000913	T	0.17323	0.0416	N	0.24115	0.695	0.46631	D	0.999132	B	0.10296	0.003	B	0.06405	0.002	T	0.03784	-1.1004	10	0.42905	T	0.14	-2.3904	10.8104	0.46543	0.0:0.1421:0.7104:0.1476	.	790	Q14686	NCOA6_HUMAN	T	790	ENSP00000363929:P790T;ENSP00000351894:P790T	ENSP00000351894:P790T	P	-	1	0	NCOA6	32801291	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.743000	0.62110	1.392000	0.46585	0.563000	0.77884	CCA			0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078811.2		NM_014071		T	33337630	G	T	33337630	3	4	48	1	0	0	0	0	1	0	0	0	10250	1203	42	2	3851	2	NCOA6	20	33337630	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		33337630	29687890	77	3455											
MN1	4330	mdanderson.org	37	chr22	28194155	28194155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccgaggtgcgctggctggGctggaaatcaggctgcggcg	5	6	20	10	4	1	0	1	0	0	0	1	2	1	1	1	7	2	4	1	7	1	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr22:28194155G>T	ENST00000302326.4	-	1	3331	c.2377C>A	c.(2377-2379)Ccc>Acc	p.P793T		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	793					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCTGGCTGGGCTGGAAATCA	0.706			T	ETV6	"AML, meningioma"																																p.P793T				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	.			0			c.C2377A												9	11	11					22																	28194155		1870	4061	5931	SO:0001583	missense	4330	exon1			GGCTGGGCTGGAA	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.2377C>A	22.37:g.28194155G>T	ENSP00000304956:p.Pro793Thr		27	0	0		26	0.12	3	NM_002430	1	0	0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	7.455	0.643466	0.14451	.	.	ENSG00000169184	ENST00000302326	T	0.44881	0.91	4.12	3.07	0.35406	.	0.336608	0.28273	N	0.015947	T	0.20414	0.0491	N	0.08118	0	0.29030	N	0.885776	B	0.25904	0.137	B	0.29942	0.109	T	0.19192	-1.0313	10	0.18710	T	0.47	-3.7113	7.0516	0.25075	0.0985:0.1733:0.7282:0.0	.	793	Q10571	MN1_HUMAN	T	793	ENSP00000304956:P793T	ENSP00000304956:P793T	P	-	1	0	MN1	26524155	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.864000	0.27926	0.681000	0.31386	0.462000	0.41574	CCC			0.706	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320737.1		NM_002430		T	28194155	G	T	28194155	3	4	48	1	0	0	0	0	1	0	0	0	9689	1203	42	2	1593	2	MN1	22	28194155	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		28194155	23110411	78	3456											
TTC38	55020	mdanderson.org	37	chr22	46685356	46685356	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacgtggggctgcccctgtgCcaggccctggtggaggctga	4	7	18	12	1	0	1	0	1	0	0	0	3	0	2	4	6	2	2	4	6	0	0			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr22:46685356C>A	ENST00000381031.3	+	12	1216	c.1140C>A	c.(1138-1140)tgC>tgA	p.C380*	TTC38_ENST00000445282.2_Nonsense_Mutation_p.C322*	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	380						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TGCCCCTGTGCCAGGCCCTGG	0.687																																					p.C380X													.	.			0			c.C1140A												28	36	33					22																	46685356		2085	4197	6282	SO:0001587	stop_gained	55020	exon12			CCTGTGCCAGGCC		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.1140C>A	22.37:g.46685356C>A	ENSP00000370419:p.Cys380*		29	0	0		31	0.1	3	NM_017931	11	0	0	Q8WV27|Q9NWP8	Nonsense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840640	0.91197	.	.	ENSG00000075234	ENST00000381031;ENST00000445282	.	.	.	4.77	2.67	0.31697	.	0.138494	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4238	8.3363	0.32217	0.0:0.8061:0.0:0.1939	.	.	.	.	X	380;322	.	ENSP00000370419:C380X	C	+	3	2	TTC38	45064020	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.601000	0.24119	1.020000	0.39573	0.655000	0.94253	TGC			0.687	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000318469.1		NM_017931		A	46685356	C	A	46685356	4	1	48	1	0	0	0	0	0	1	0	0	16730	747	26	2	1186	2	TTC38	22	46685356	Nonsense_Mutation	SNP	C	TCGA-2G-AAH8-01A-11D-A42Y-10	18491201	46685356	4619210	79	3457											
CELSR1	9620	mdanderson.org	37	chr22	46931248	46931248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagaaaggtggaggccGtgtccaccaggcgatagtgc	9	5	14	13	2	0	1	0	0	0	1	1	3	1	2	5	4	1	0	5	4	2	1			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr22:46931248G>A	ENST00000262738.3	-	1	1819	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	CELSR1_ENST00000395964.1_Missense_Mutation_p.T607M|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	607	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTGGAGGCCGTGTCCACCAG	0.647																																					p.T607M													.	.			0			c.C1820T												26	28	27					22																	46931248		2202	4300	6502	SO:0001583	missense	9620	exon1			GAGGCCGTGTCCA	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1820C>T	22.37:g.46931248G>A	ENSP00000262738:p.Thr607Met		41	0	0		35	0.09	3	NM_014246	8	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	1.332	-0.596548	0.03771	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.53423	0.62;1.12	4.92	-0.101	0.13618	Cadherin (4);Cadherin-like (1);	0.081472	0.46442	U	0.000293	T	0.32556	0.0833	L	0.39020	1.185	0.09310	N	1	P	0.37233	0.588	B	0.35607	0.206	T	0.18713	-1.0328	10	0.44086	T	0.13	.	9.2725	0.37679	0.462:0.0:0.538:0.0	.	607	Q9NYQ6	CELR1_HUMAN	M	607	ENSP00000262738:T607M;ENSP00000379293:T607M	ENSP00000262738:T607M	T	-	2	0	CELSR1	45309912	0.998000	0.40836	0.145000	0.22337	0.003000	0.03518	2.676000	0.46883	0.154000	0.19237	-0.379000	0.06801	ACG			0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		A	46931248	G	A	46931248	3	1	48	1	0	0	0	0	1	0	0	0	3223	1145	40	1	7364	1	CELSR1	22	46931248	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	245892	46931248	4373318	80	3458											
KLHDC7B	113730	mdanderson.org	37	chr22	50986623	50986623	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaagccaccccttccccAggcaagacaggccccaaggg	11	4	10	16	0	0	2	0	0	0	2	1	2	1	2	7	3	1	1	7	3	4	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chr22:50986623A>T	ENST00000395676.2	+	1	162	c.28A>T	c.(28-30)Agg>Tgg	p.R10W	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	10										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCTTCCCCAGGCAAGACAG	0.642																																					p.R10W													.	.			0			c.A28T												33	35	35					22																	50986623		692	1591	2283	SO:0001583	missense	113730	exon1			TTCCCCAGGCAAG	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.28A>T	22.37:g.50986623A>T	ENSP00000379034:p.Arg10Trp		52	0	0		35	0.09	3	NM_138433	1	0	0		Missense_Mutation	SNP	ENST00000395676.2	37	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880802	0.72294	.	.	ENSG00000130487	ENST00000395676	D	0.84800	-1.9	3.72	3.72	0.42706	.	.	.	.	.	T	0.73659	0.3615	L	0.27053	0.805	0.30547	N	0.765905	P	0.34977	0.478	B	0.24541	0.054	T	0.74460	-0.3658	9	0.87932	D	0	.	10.4551	0.44546	1.0:0.0:0.0:0.0	.	10	Q96G42	KLD7B_HUMAN	W	10	ENSP00000379034:R10W	ENSP00000379034:R10W	R	+	1	2	KLHDC7B	49333489	0.017000	0.18338	1.000000	0.80357	0.950000	0.60333	0.192000	0.17096	1.564000	0.49628	0.397000	0.26171	AGG			0.642	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317089.2		NM_138433		T	50986623	A	T	50986623	3	4	48	1	0	0	0	0	1	0	0	0	8376	179	7	5	30	5	KLHDC7B	22	50986623	Missense_Mutation	SNP	A	TCGA-2G-AAH8-01A-11D-A42Y-10	4055375	50986623	317943	81	3459											
KDM5C	8242	mdanderson.org	37	chrX	53222378	53222378	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcagcctctggccctGagctccgtaccctctttggc	3	11	8	19	1	3	1	1	1	2	0	5	1	5	1	6	2	3	2	6	2	1	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chrX:53222378G>T	ENST00000375401.3	-	26	4986	c.4454C>A	c.(4453-4455)tCa>tAa	p.S1485*	KDM5C_ENST00000375379.3_Nonsense_Mutation_p.S1482*|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.S1484*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.S1441*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1485					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTCTGGCCCTGAGCTCCGTAC	0.711			"N, F, S"		clear cell renal carcinoma																																p.S1485X				Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	.	.			0			c.C4454A												63	40	48					X																	53222378		2203	4300	6503	SO:0001587	stop_gained	8242	exon26			GGCCCTGAGCTCC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4454C>A	X.37:g.53222378G>T	ENSP00000364550:p.Ser1485*		29	0	0		61	0.07	4	NM_004187	246	0	1	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	45	11.777268	0.99601	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	4.4	3.52	0.40303	.	0.718117	0.11415	U	0.566405	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5503	4.9215	0.13872	0.1213:0.216:0.6626:0.0	.	.	.	.	X	1485;1484;1482;1441	.	ENSP00000364528:S1482X	S	-	2	0	KDM5C	53239103	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.619000	0.36965	1.803000	0.52742	0.407000	0.27541	TCA			0.711	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000056737.2		NM_004187		T	53222378	G	T	53222378	4	4	48	1	0	0	0	0	0	1	0	0	8150	1294	45	3	330	3	KDM5C	23	53222378	Nonsense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10		53222378	102048182	82	3460											
HMGB3	3149	mdanderson.org	37	chrX	150156378	150156378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaataaagaaactgttt	16	6	18	1	0	0	2	0	1	0	1	0	10	0	9	0	7	1	1	0	7	4	2			TCGA-2G-AAH8-01A-11D-A42Y-10	TCGA-2G-AAH8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf4e939a-ec2e-42e2-a404-56b7e3c355ea	933fc86a-905f-44dc-897e-20ba42f39b6a	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				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)					aggaggaggaggaTGAATAAA	0.463																																					p.E198D													.	.			0			c.G594T												49	48	49					X																	150156378		2203	4299	6502	SO:0001583	missense	3149	exon5			GGAGGAGGATGAA	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.594G>T	X.37:g.150156378G>T	ENSP00000359393:p.Glu198Asp		13	0	0		20	0.1	2	NM_005342	88	0	0	O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	0.347	-0.947364	0.02304	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	T;T	0.35048	1.33;1.33	4.84	-6.29	0.02013	.	0.320496	0.22526	N	0.058902	T	0.10208	0.0250	N	0.08118	0	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	.	.	.	.	0.6043	0.00750	0.3103:0.1878:0.1198:0.3821	.	198	O15347	HMGB3_HUMAN	D	198	ENSP00000359393:E198D;ENSP00000442758:E198D	.	E	+	3	2	HMGB3	149907036	0.210000	0.23517	0.059000	0.19551	0.160000	0.22226	0.068000	0.14531	-1.155000	0.02822	0.600000	0.82982	GAG			0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060867.1		NM_005342		T	150156378	G	T	150156378	3	4	48	1	0	0	0	0	1	0	0	0	7242	991	35	3	608	3	HMGB3	23	150156378	Missense_Mutation	SNP	G	TCGA-2G-AAH8-01A-11D-A42Y-10	96934000	150156378	5114182	83	3461											
NBL1	4681	broad.mit.edu	37	chr1	19981664	19981664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagatcgtgggccacagCggctgtgaggccaagtccat	9	6	13	13	2	0	2	0	1	0	1	2	2	1	2	4	3	1	1	4	3	1	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr1:19981664C>T	ENST00000375136.3	+	2	444	c.141C>T	c.(139-141)agC>agT	p.S47S	NBL1_ENST00000548815.1_Silent_p.S46S|NBL1_ENST00000289749.2_Silent_p.S82S|MINOS1-NBL1_ENST00000602662.1_Silent_p.S47S	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	47	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)	p.S46S(1)		lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCACAGCGGCTGTGAGG	0.627																																					p.S82S													NBL1,NS,carcinoma,0,1	NBL1	21	1	1	Substitution - coding silent(1)	prostate(1)	c.C246T												33	27	29					1																	19981664		2202	4300	6502	SO:0001819	synonymous_variant	4681	exon2			CCACAGCGGCTGT		CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"neuroblastoma candidate region, suppression of tumorigenicity 1", "neuroblastoma suppressor of tumorigenicity 1", "differential screening-selected gene aberrant in neuroblastoma"	600613	"neuroblastoma, suppression of tumorigenicity 1"			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.141C>T	1.37:g.19981664C>T			79	0	0		98	0.03	3	NM_182744	216	0	0	A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Silent	SNP	ENST00000375136.3	37	CCDS196.2																																																																																					0.627	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000007681.4		NM_005380		T	19981664	C	T	19981664	2	4	49	1	0	0	0	0	0	0	0	1	10206	767	27	1		1	NBL1	1	19981664	Silent	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10		19981664	229268957	1	3462											
WNT4	54361	mdanderson.org	37	chr1	22446566	22446566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcacgtgtgcaactccaCgagccgctggcactgccggc	6	6	13	16	5	0	0	0	0	0	0	2	1	1	0	3	3	4	4	3	3	1	0	rs201176310		TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr1:22446566C>T	ENST00000290167.6	-	5	1076	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	WNT4_ENST00000542383.1_Missense_Mutation_p.V290M	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	345					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)		TGCAACTCCACGAGCCGCTGG	0.637																																					p.V345M													WNT4,caecum,carcinoma,+1,1	WNT4	1	1	0			c.G1033A												24	24	24					1																	22446566		2203	4298	6501	SO:0001583	missense	54361	exon5			ACTCCACGAGCCG	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.1033G>A	1.37:g.22446566C>T	ENSP00000290167:p.Val345Met		43	0	0		44	0.09	4	NM_030761	0		0	B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	CCDS223.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.272523	0.80580	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	T;T	0.76839	-1.05;-1.05	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90327	0.4349	10	0.87932	D	0	.	15.5591	0.76223	0.0:1.0:0.0:0.0	.	345	P56705	WNT4_HUMAN	M	345;290	ENSP00000290167:V345M;ENSP00000441033:V290M	ENSP00000290167:V345M	V	-	1	0	WNT4	22319153	0.992000	0.36948	0.994000	0.49952	0.938000	0.57974	3.010000	0.49559	2.312000	0.78011	0.450000	0.29827	GTG			0.637	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008088.2				T	22446566	C	T	22446566	3	4	49	1	0	0	0	0	1	0	0	0	17414	536	19	1	26	1	WNT4	1	22446566	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	2464902	22446566	226804055	2	3463											
LEPRE1	64175	mdanderson.org	37	chr1	43213951	43213951	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatgcagttgtccacgtgGactggatgactatcatcctt	9	12	11	9	1	1	1	1	1	0	0	3	4	3	4	2	3	1	2	2	3	1	3			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr1:43213951G>T	ENST00000296388.5	-	12	1809	c.1758C>A	c.(1756-1758)gtC>gtA	p.V586V	LEPRE1_ENST00000236040.4_Silent_p.V586V|LEPRE1_ENST00000462474.1_5'Flank|LEPRE1_ENST00000397054.3_Silent_p.V586V			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	586	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGTCCACGTGGACTGGATGAC	0.577																																					p.V586V													.	.			0			c.C1758A												136	111	119					1																	43213951		2203	4300	6503	SO:0001819	synonymous_variant	64175	exon12			CACGTGGACTGGA	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1758C>A	1.37:g.43213951G>T			50	0	0		41	0.07	3	NM_022356	57	0	0	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	CCDS472.2																																																																																					0.577	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000019790.2		NM_022356		T	43213951	G	T	43213951	2	4	49	1	0	0	0	0	0	0	0	1	8744	1161	41	3		3	LEPRE1	1	43213951	Silent	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	20767385	43213951	206036670	3	3464											
FAF1	11124	broad.mit.edu	37	chr1	50907170	50907170	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactttacctccaataatGatttatttgggtccagttga	12	15	6	8	0	0	2	0	2	0	0	2	2	2	2	3	1	2	1	3	1	5	7			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr1:50907170G>T	ENST00000396153.2	-	19	2346	c.1895C>A	c.(1894-1896)tCa>tAa	p.S632*	FAF1_ENST00000371778.4_Nonsense_Mutation_p.S632*|FAF1_ENST00000545823.1_Nonsense_Mutation_p.S390*	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	632	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTCCAATAATGATTTATTTGG	0.398																																					p.S632X													.	FAF1	64		0			c.C1895A												39	37	38					1																	50907170		2133	4161	6294	SO:0001587	stop_gained	11124	exon19			AATAATGATTTAT	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1895C>A	1.37:g.50907170G>T	ENSP00000379457:p.Ser632*		121	0.0082644628	1		131	0.03	4	NM_007051	152	0	0	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Nonsense_Mutation	SNP	ENST00000396153.2	37	CCDS554.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712274	0.89112	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	6.03	6.03	0.97812	.	0.132273	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-0.3918	18.7374	0.91761	0.0:0.0:1.0:0.0	.	.	.	.	X	632;632;390;472;480	.	ENSP00000360843:S632X	S	-	2	0	FAF1	50679758	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.163000	0.77524	2.861000	0.98227	0.655000	0.94253	TCA			0.398	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021807.1		NM_007051		T	50907170	G	T	50907170	4	4	49	1	0	0	0	0	0	1	0	0	5379	1294	45	3	61	3	FAF1	1	50907170	Nonsense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	7693219	50907170	198343451	4	3465											
NEXN	91624	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	78407806	78407808	+	In_Frame_Del	DEL	AGA	AGA	-																															gaacaaatggctaaggcaagAgaagaagaagaacaaagaag																										TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	AGA	AGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr1:78407806_78407808delAGA	ENST00000334785.7	+	12	1756_1758	c.1572_1574delAGA	c.(1570-1575)agagaa>aga	p.E528del	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000330010.8_In_Frame_Del_p.E464del|FUBP1_ENST00000489495.1_5'Flank|NEXN_ENST00000457030.1_In_Frame_Del_p.E514del	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)		CTAAGGCAAGAGAAGAAGAAGAA	0.384																																					p.524_525del													.	NEXN	77		0			c.1571_1573del								,	24,3528		10,4,1762					,	5.7	1			68	55,7803		25,5,3899	no	coding,coding	NEXN	NM_144573.3,NM_001172309.1	,	35,9,5661	A1A1,A1R,RR		0.6999,0.6757,0.6924	,	,		79,11331				SO:0001651	inframe_deletion	91624	exon12			GGCAAGAGAAGAA	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.1572_1574delAGA	1.37:g.78407815_78407817delAGA	ENSP00000333938:p.Glu528del		164	0	0		158	0.16	26	NM_144573	28	0	0		In_Frame_Del	DEL	ENST00000334785.7	37	CCDS41351.1																																																																																					0.384	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097549.1		NM_144573		-	78407808	AGA	-	78407806	7	5	49	1	0	1	0	1	0	0	0	0	10372	301	11	0	1614	0	NEXN	1	78407806	In_Frame_Del	DEL	AGA	TCGA-2G-AAHA-01A-11D-A42Y-10	27500636	78407806	170842815	5	3466											
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcaaagagaaatgttttCtaactcaactggccggcttc	12	11	7	11	1	3	1	2	0	1	1	4	2	3	1	2	2	2	2	2	2	4	4	rs55936365		TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		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)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V													NBPF10,NS,carcinoma,0,2	NBPF10	0	2	2	Substitution - Missense(2)	kidney(2)	c.C130G																																									SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	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.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val		67	0.0149253731	1		92	0.1	9	NM_001039703	19	0	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT			0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding		OTTHUMT00000038550.3		NM_001039703		G	145293535	C	G	145293535	3	3	49	1	0	0	0	0	1	0	0	0	10209	912	32	5	132	5	NBPF10	1	145293535	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	66885729	145293535	103957086	6	3467											
APH1A	51107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150238547	150238547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagtcctcgggtgggaTgcgcagggcagaatacacca	9	6	13	13	2	1	1	1	0	0	1	3	2	2	2	3	3	2	2	3	3	2	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr1:150238547T>C	ENST00000369109.3	-	7	969	c.781A>G	c.(781-783)Atc>Gtc	p.I261V	APH1A_ENST00000414276.2_Missense_Mutation_p.I191V|APH1A_ENST00000461320.1_5'Flank|APH1A_ENST00000360244.4_3'UTR|C1orf54_ENST00000369102.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	261					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGGGTGGGATGCGCAGGGCA	0.632																																					p.I261V													.	.			0			c.A781G												26	30	29					1																	150238547		1957	4125	6082	SO:0001583	missense	51107	exon7			GTGGGATGCGCAG	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.781A>G	1.37:g.150238547T>C	ENSP00000358105:p.Ile261Val		323	0	0		411	0.3	124	NM_001077628	198	0.24	47	B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	T	6.287	0.421018	0.11928	.	.	ENSG00000117362	ENST00000369109;ENST00000414276	T;T	0.41758	1.0;0.99	6.16	2.4	0.29515	.	0.233808	0.37261	N	0.002174	T	0.05502	0.0145	N	0.08118	0	0.23620	N	0.997272	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.31806	-0.9930	10	0.23302	T	0.38	-5.8527	1.2774	0.02033	0.1471:0.1551:0.1538:0.544	.	191;261	B4DQK0;Q96BI3	.;APH1A_HUMAN	V	261;191	ENSP00000358105:I261V;ENSP00000397473:I191V	ENSP00000358105:I261V	I	-	1	0	APH1A	148505171	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	1.367000	0.34204	0.550000	0.28991	-0.323000	0.08544	ATC			0.632	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000035048.1		NM_016022		C	150238547	T	C	150238547	3	2	49	1	0	0	0	0	1	0	0	0	771	1464	51	4	20	4	APH1A	1	150238547	Missense_Mutation	SNP	T	TCGA-2G-AAHA-01A-11D-A42Y-10	4945012	150238547	99012074	7	3468											
SLAMF6	114836	broad.mit.edu	37	chr1	160465888	160465888	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactggacagctttgcagaGgtctttgtggatatctgggc	8	13	13	7	0	2	1	0	0	2	1	2	3	2	3	0	4	3	2	0	4	2	4			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr1:160465888G>T	ENST00000368057.3	-	2	405	c.345C>A	c.(343-345)acC>acA	p.T115T	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Silent_p.T115T			Q96DU3	SLAF6_HUMAN	SLAM family member 6	115	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T115T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GCTTTGCAGAGGTCTTTGTGG	0.428																																					p.T115T													SLAMF6,NS,carcinoma,0,1	SLAMF6	46	1	1	Substitution - coding silent(1)	lung(1)	c.C345A												151	145	147					1																	160465888		2203	4300	6503	SO:0001819	synonymous_variant	114836	exon2			TGCAGAGGTCTTT	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.345C>A	1.37:g.160465888G>T			262	0	0		315	0.02	5	NM_052931	22	0	0	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Silent	SNP	ENST00000368057.3	37	CCDS53394.1																																																																																					0.428	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000059010.1		NM_052931		T	160465888	G	T	160465888	2	4	49	1	0	0	0	0	0	0	0	1	14391	987	35	3		3	SLAMF6	1	160465888	Silent	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	10227341	160465888	88784733	8	3469											
INO80B	83444	mdanderson.org	37	chr2	74684838	74684838	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccctcaggcccgccGccgcgctgctctgtccccgg	2	6	10	23	5	2	0	1	0	1	0	4	0	4	0	8	2	1	2	8	2	0	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr2:74684838G>A	ENST00000233331.7	+	5	1012	c.918G>A	c.(916-918)ccG>ccA	p.P306P	WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	306					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CAGGCCCGCCGCCGCGCTGCT	0.692																																					p.P306P													.	.			0			c.G918A												13	14	13					2																	74684838		2147	4230	6377	SO:0001819	synonymous_variant	83444	exon5			CCCGCCGCCGCGC	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.918G>A	2.37:g.74684838G>A			27	0	0		32	0.09	3	NM_031288	29	0	0		Silent	SNP	ENST00000233331.7	37	CCDS1942.2																																																																																					0.692	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252223.2		NM_031288		A	74684838	G	A	74684838	2	1	49	1	0	0	0	0	0	0	0	1	7762	1074	38	1		1	INO80B	2	74684838	Silent	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		74684838	168514535	9	3470											
SFTPB	6439	mdanderson.org	37	chr2	85890594	85890594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcagagtctcgcggcaGccattctcctgtcggcgacc	6	8	11	16	4	3	1	1	0	2	1	6	2	3	1	3	2	1	2	3	2	0	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr2:85890594G>T	ENST00000519937.2	-	8	896	c.877C>A	c.(877-879)Ctg>Atg	p.L293M	SFTPB_ENST00000409383.1_Missense_Mutation_p.L305M|SFTPB_ENST00000393822.3_Missense_Mutation_p.L305M|SFTPB_ENST00000342375.3_Missense_Mutation_p.L293M			P07988	PSPB_HUMAN	surfactant protein B	293					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TCTCGCGGCAGCCATTCTCCT	0.602																																					p.L305M													.	.			0			c.C913A												32	31	31					2																	85890594		2203	4300	6503	SO:0001583	missense	6439	exon9			GCGGCAGCCATTC	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.877C>A	2.37:g.85890594G>T	ENSP00000428719:p.Leu293Met		73	0	0		55	0.05	3	NM_198843	2	0	0	Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.254347|2.254347	0.39896|0.39896	.|.	.|.	ENSG00000168878|ENSG00000168878	ENST00000428225|ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	.|T;T;T;T	.|0.71579	.|0.46;-0.37;-0.58;-0.37	5.39|5.39	2.28|2.28	0.28536|0.28536	.|.	.|1.166040	.|0.06593	.|N	.|0.752428	T|T	0.75561|0.75561	0.3866|0.3866	L|L	0.52573|0.52573	1.65|1.65	0.09310|0.09310	N|N	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;0.999	.|P;P	.|0.62740	.|0.906;0.906	T|T	0.58509|0.58509	-0.7624|-0.7624	5|10	.|0.27082	.|T	.|0.32	-0.0651|-0.0651	5.78|5.78	0.18301|0.18301	0.1844:0.0:0.649:0.1666|0.1844:0.0:0.649:0.1666	.|.	.|305;293	.|D6W5L6;P07988	.|.;PSPB_HUMAN	D|M	285|295;305;293;305;261	.|ENSP00000428719:L295M;ENSP00000377409:L305M;ENSP00000345161:L293M;ENSP00000386346:L305M	.|ENSP00000345161:L293M	A|L	-|-	2|1	0|2	SFTPB|SFTPB	85744105|85744105	0.930000|0.930000	0.31532|0.31532	0.279000|0.279000	0.24732|0.24732	0.323000|0.323000	0.28346|0.28346	1.288000|1.288000	0.33296|0.33296	0.659000|0.659000	0.30945|0.30945	0.561000|0.561000	0.74099|0.74099	GCT|CTG			0.602	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000252499.3		NM_198843		T	85890594	G	T	85890594	3	4	49	1	0	0	0	0	1	0	0	0	14214	962	34	2	280	2	SFTPB	2	85890594	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	11205756	85890594	157308779	10	3471											
ANKRD36B	57730	mdanderson.org	37	chr2	98165905	98165905	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctagatttttctccatccTttttttctctggctatattc	5	22	3	11	0	2	1	0	0	2	1	7	1	4	1	3	1	0	1	3	1	3	9			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr2:98165905T>C	ENST00000443455.1	-	0	1564							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TTCTCCATCCTTTTTTTCTCT	0.318																																					p.K485R													.	.			0			c.A1454G												40	16	24					2																	98165905		1756	3773	5529			57730	exon20			CCATCCTTTTTTT	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98165905T>C			14	0	0		27	0.07	2	NM_025190	3	0	0	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37																																																																																						0.318	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000328967.2		NM_025190		C	98165905	T	C	98165905	1	2	49	0	1	0	0	0	0	0	0	0	666	1609	56	4		4	ANKRD36B	2	98165905	RNA	SNP	T	TCGA-2G-AAHA-01A-11D-A42Y-10	12275311	98165905	145033468	11	3472											
INPP4A	3631	broad.mit.edu	37	chr2	99185080	99185080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatcaacgtggagagtttgGtgcggttaaattcctacttt	9	15	10	7	2	2	1	2	0	0	1	3	2	3	1	1	3	3	2	1	3	4	5			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr2:99185080G>T	ENST00000523221.1	+	21	2482	c.2482G>T	c.(2482-2484)Gtg>Ttg	p.V828L	INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000409851.3_Missense_Mutation_p.V823L|INPP4A_ENST00000545415.1_Missense_Mutation_p.V789L|INPP4A_ENST00000409540.3_Missense_Mutation_p.V789L|INPP4A_ENST00000409016.4_Missense_Mutation_p.V789L|INPP4A_ENST00000409463.1_Missense_Mutation_p.V157L|INPP4A_ENST00000074304.5_Missense_Mutation_p.V828L			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	828					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGAGTTTGGTGCGGTTAAA	0.403																																					p.V828L													.	INPP4A	205		0			c.G2482T												138	130	133					2																	99185080		1904	4122	6026	SO:0001583	missense	3631	exon23			AGTTTGGTGCGGT	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2482G>T	2.37:g.99185080G>T	ENSP00000427722:p.Val828Leu		304	0	0		427	0.01	6	NM_001134224	42	0	0	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158161	0.57368	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.42900	1.96;2.28;0.96;2.28;1.96;1.95;2.28	4.79	4.79	0.61399	.	0.278277	0.35903	N	0.002908	T	0.25419	0.0618	N	0.05124	-0.11	0.45733	D	0.99863	B;B;B;B;B	0.30236	0.065;0.274;0.01;0.168;0.168	B;B;B;B;B	0.29785	0.036;0.05;0.01;0.107;0.107	T	0.10636	-1.0621	10	0.33940	T	0.23	-17.4857	16.992	0.86356	0.0:0.0:1.0:0.0	.	789;789;157;828;823	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	L	789;823;157;828;789;789;828	ENSP00000386704:V789L;ENSP00000386777:V823L;ENSP00000386329:V157L;ENSP00000074304:V828L;ENSP00000442149:V789L;ENSP00000387294:V789L;ENSP00000427722:V828L	ENSP00000074304:V828L	V	+	1	0	INPP4A	98551512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.352000	0.73027	2.496000	0.84212	0.561000	0.74099	GTG			0.403	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000376095.1		NM_001566		T	99185080	G	T	99185080	3	4	49	1	0	0	0	0	1	0	0	0	7767	1261	44	3	2564	3	INPP4A	2	99185080	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	1019175	99185080	144014293	12	3473											
PPIG	9360	broad.mit.edu	37	chr2	170493804	170493804	+	Frame_Shift_Del	DEL	A	A	-																															tagctcaaataacagcagggAaaaaaaggctgatagagatc																										TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr2:170493804delA	ENST00000260970.3	+	14	2256	c.2036delA	c.(2035-2037)gaafs	p.E679fs	PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	679					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)	AACAGCAGGGAAAAAAAGGCT	0.358																																					p.E679fs													.	PPIG	100		0			c.2036delA												61	65	64					2																	170493804		2203	4300	6503	SO:0001589	frameshift_variant	9360	exon14			GCAGGGAAAAAAA	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.2036delA	2.37:g.170493804delA	ENSP00000260970:p.Glu679fs		158	0	0		186	0.04	7	NM_004792	178	0	0	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Frame_Shift_Del	DEL	ENST00000260970.3	37	CCDS2235.1																																																																																					0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255264.2				-	170493804	A	-	170493804	7	5	49	1	0	1	0	1	0	0	0	0	12344	246	9	0	2082	0	PPIG	2	170493804	Frame_Shift_Del	DEL	A	TCGA-2G-AAHA-01A-11D-A42Y-10	71308724	170493804	72705569	13	3474											
ANO7	50636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	242142853	242142853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaagtggaacaagtaccagCccctggaccacgtgcgcagg	11	4	13	13	2	0	0	0	0	0	0	0	2	0	2	4	3	4	3	4	3	4	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr2:242142853C>T	ENST00000274979.8	+	9	1094	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	ANO7_ENST00000402430.3_Missense_Mutation_p.P330S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	331					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAAGTACCAGCCCCTGGACCA	0.687																																					p.P331S													ANO7,NS,carcinoma,-1,1	ANO7	-1	1	0			c.C991T												34	28	30					2																	242142853		2189	4299	6488	SO:0001583	missense	50636	exon9			TACCAGCCCCTGG	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.991C>T	2.37:g.242142853C>T	ENSP00000274979:p.Pro331Ser		375	0	0		498	0.15	77	NM_001001891	1	0	0	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938583	0.52972	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.68025	-0.3;-0.3	3.11	3.11	0.35812	.	0.000000	0.64402	U	0.000001	D	0.85392	0.5686	H	0.94385	3.53	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	D	0.89397	0.3693	10	0.87932	D	0	.	13.2925	0.60278	0.0:1.0:0.0:0.0	.	331	Q6IWH7	ANO7_HUMAN	S	331;330	ENSP00000274979:P331S;ENSP00000385418:P330S	ENSP00000274979:P331S	P	+	1	0	ANO7	241791526	1.000000	0.71417	0.785000	0.31869	0.187000	0.23431	6.572000	0.74005	1.445000	0.47624	0.313000	0.20887	CCC			0.687	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323509.1		NM_001001891		T	242142853	C	T	242142853	3	4	49	1	0	0	0	0	1	0	0	0	702	739	26	2	1097	2	ANO7	2	242142853	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	71649049	242142853	1056520	14	3475											
DHX30	22907	broad.mit.edu	37	chr3	47891431	47891431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtgactcgcgtaccgtgCggctgctgaaggagctgcgg	6	7	18	10	5	0	2	0	2	0	0	1	3	0	3	1	4	5	4	1	4	2	1	rs144869940		TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr3:47891431C>T	ENST00000445061.1	+	22	3813	c.3406C>T	c.(3406-3408)Cgg>Tgg	p.R1136W	DHX30_ENST00000348968.4_Missense_Mutation_p.R1108W|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.R1164W|DHX30_ENST00000446256.2_Missense_Mutation_p.R1097W	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1136				R -> W (in Ref. 3; AAH14237). {ECO:0000305}.		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)		GCGTACCGTGCGGCTGCTGAA	0.687											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1136W													.	DHX30	101		0			c.C3406T							C	TRP/ARG,TRP/ARG	2,4404	2.1+/-5.4	0,2,2201	28	29	29		3289,3406	5	1	3	dbSNP_134	29	0,8600		0,0,4300	no	missense,missense	DHX30	NM_014966.3,NM_138615.2	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	1097/1156,1136/1195	47891431	2,13004	2203	4300	6503	SO:0001583	missense	22907	exon22			ACCGTGCGGCTGC	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.3406C>T	3.37:g.47891431C>T	ENSP00000405620:p.Arg1136Trp		104	0	0	950	109	0.04	4	NM_138615	112	0	0	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008093	0.54361	4.54E-4	0.0	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03386	3.97;3.96;3.96;3.95	5.0	5.0	0.66597	.	0.300998	0.33364	N	0.004981	T	0.05823	0.0152	N	0.14661	0.345	0.37660	D	0.922725	D;D	0.57257	0.979;0.976	B;P	0.54924	0.183;0.764	T	0.47328	-0.9126	10	0.72032	D	0.01	.	13.086	0.59140	0.0:0.8389:0.1611:0.0	.	1136;1097	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	W	1097;1136;1108;1164	ENSP00000392601:R1097W;ENSP00000405620:R1136W;ENSP00000343442:R1108W;ENSP00000394682:R1164W	ENSP00000343442:R1108W	R	+	1	2	DHX30	47866435	1.000000	0.71417	0.999000	0.59377	0.627000	0.37826	2.171000	0.42453	2.303000	0.77524	0.462000	0.41574	CGG			0.687	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257495.2		NM_138615		T	47891431	C	T	47891431	3	4	49	1	0	0	0	0	1	0	0	0	4509	759	27	1	3495	1	DHX30	3	47891431	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10		47891431	150130999	15	3476											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599320	55599320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgattttggtctagccagaGacatcaagaatgattctaat	13	13	9	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	5	rs121913506		TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr4:55599320G>C	ENST00000288135.5	+	17	2543	c.2446G>C	c.(2446-2448)Gac>Cac	p.D816H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816H			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,0,932	KIT	0	932	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	c.G2446C												144	146	145					4																	55599320		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GCCAGAGACATCA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>C	4.37:g.55599320G>C	ENSP00000288135:p.Asp816His		96	0	0		98	0.24	24	NM_000222	181	0.67	121	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721319	0.68959	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83837	-1.77;-1.77	5.62	5.62	0.85841	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	0.000011	T	0.80732	0.4679	L	0.49699	1.58	0.80722	D	1	P;B	0.44734	0.842;0.353	B;B	0.38156	0.266;0.154	D	0.83488	0.0068	10	0.72032	D	0.01	.	19.6484	0.95791	0.0:0.0:1.0:0.0	rs28933969	812;816	P10721-2;P10721	.;KIT_HUMAN	H	816;812	ENSP00000288135:D816H;ENSP00000390987:D812H	ENSP00000288135:D816H	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				C	55599320	G	C	55599320	3	2	49	1	0	0	0	0	1	0	0	0	8344	942	33	5	2512	5	KIT	4	55599320	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		55599320	135554956	16	3477											
AGA	175	broad.mit.edu	37	chr4	178355608	178355608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcagtatcgtcagcatagGctccagctccaggtattggt	8	11	11	11	1	1	0	1	0	0	0	4	0	3	0	2	3	3	6	2	3	3	4			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr4:178355608G>T	ENST00000264595.2	-	7	861	c.734C>A	c.(733-735)gCc>gAc	p.A245D	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	245					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)		GTCAGCATAGGCTCCAGCTCC	0.463																																					p.A245D													.	AGA	39		0			c.C734A												115	108	110					4																	178355608		2203	4300	6503	SO:0001583	missense	175	exon7			GCATAGGCTCCAG	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.734C>A	4.37:g.178355608G>T	ENSP00000264595:p.Ala245Asp		243	0	0		260	0.02	5	NM_000027	80	0.01	1	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	CCDS3829.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.487846|4.487846	0.84854|0.84854	.|.	.|.	ENSG00000038002|ENSG00000038002	ENST00000264595;ENST00000502310|ENST00000510635	D;D|.	0.87103|.	-2.21;-2.21|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.219867|.	0.46758|.	D|.	0.000276|.	D|D	0.86793|0.86793	0.6018|0.6018	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	D|.	0.68039|.	0.955|.	D|D	0.89209|0.89209	0.3563|0.3563	10|5	0.87932|.	D|.	0|.	-33.7827|-33.7827	19.3909|19.3909	0.94583|0.94583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245|.	P20933|.	ASPG_HUMAN|.	D|T	245;102|134	ENSP00000264595:A245D;ENSP00000423798:A102D|.	ENSP00000264595:A245D|.	A|P	-|-	2|1	0|0	AGA|AGA	178592602|178592602	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.429000|0.429000	0.31625|0.31625	7.464000|7.464000	0.80887|0.80887	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	GCC|CCT			0.463	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361916.1		NM_000027		T	178355608	G	T	178355608	3	4	49	1	0	0	0	0	1	0	0	0	365	1203	42	2	318	2	AGA	4	178355608	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	122756288	178355608	12798668	17	3478											
PIK3R1	5295	broad.mit.edu	37	chr5	67588169	67588169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttacaagatgctgaatgGtactggggagatatctcgag	11	11	12	7	1	1	3	0	1	1	2	3	5	2	3	1	3	3	2	1	3	5	3			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr5:67588169G>T	ENST00000521381.1	+	8	1615	c.999G>T	c.(997-999)tgG>tgT	p.W333C	PIK3R1_ENST00000320694.8_Missense_Mutation_p.W33C|PIK3R1_ENST00000396611.1_Missense_Mutation_p.W333C|PIK3R1_ENST00000336483.5_Missense_Mutation_p.W63C|PIK3R1_ENST00000523872.1_5'Flank|PIK3R1_ENST00000274335.5_Missense_Mutation_p.W333C|PIK3R1_ENST00000521657.1_Missense_Mutation_p.W333C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	333	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)	ATGCTGAATGGTACTGGGGAG	0.383			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																											p.W333C				Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	PIK3R1,colon,carcinoma,+2,1	PIK3R1	869	1	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)	c.G999T												160	149	153					5																	67588169		2203	4300	6503	SO:0001583	missense	5295	exon8			TGAATGGTACTGG	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.999G>T	5.37:g.67588169G>T	ENSP00000428056:p.Trp333Cys		112	0	0		108	0.04	4	NM_181523	35	0	0	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945636	0.73672	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483	D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.13	5.13	0.70059	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.99177	1.0866	10	0.87932	D	0	-10.8887	19.115	0.93334	0.0:0.0:1.0:0.0	.	63;33;333	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	C	333;333;333;333;63;63;33;63	ENSP00000428056:W333C;ENSP00000429277:W333C;ENSP00000379855:W333C;ENSP00000274335:W333C;ENSP00000430126:W63C;ENSP00000429766:W63C;ENSP00000323512:W33C;ENSP00000338554:W63C	ENSP00000274335:W333C	W	+	3	0	PIK3R1	67623925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.822000	0.97130	0.563000	0.77884	TGG			0.383	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254013.2		NM_181504		T	67588169	G	T	67588169	3	4	49	1	0	0	0	0	1	0	0	0	11935	1270	44	3	1155	3	PIK3R1	5	67588169	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		67588169	113327091	18	3479											
FBN2	2201	mdanderson.org	37	chr5	127800526	127800526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtccaatggtggcacaGcacagagtcttcgtgcagac	9	7	12	13	2	1	2	0	0	1	2	3	2	2	2	2	2	2	3	2	2	1	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr5:127800526G>A	ENST00000508053.1	-	12	1691	c.717C>T	c.(715-717)tgC>tgT	p.C239C	FBN2_ENST00000262464.4_Silent_p.C239C|FBN2_ENST00000508989.1_Silent_p.C206C			P35556	FBN2_HUMAN	fibrillin 2	239	TB 1.				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)		TGGTGGCACAGCACAGAGTCT	0.597																																					p.C239C													.	.			0			c.C717T												90	84	86					5																	127800526		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon6			GGCACAGCACAGA	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.717C>T	5.37:g.127800526G>A			99	0	0		93	0.04	4	NM_001999	0		0	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																					0.597	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371618.2		NM_001999		A	127800526	G	A	127800526	2	1	49	1	0	0	0	0	0	0	0	1	5716	963	34	2		2	FBN2	5	127800526	Silent	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	60212357	127800526	53114734	19	3480											
SPRY4	81848	mdanderson.org	37	chr5	141694655	141694655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtcaagggggcgctctGtgggatcgggggctccatgg	5	7	21	8	2	2	0	1	0	1	0	4	2	3	2	1	7	0	2	1	7	1	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr5:141694655G>T	ENST00000434127.2	-	2	262	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.Q30K	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	7					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCGCTCTGTGGGATCGGG	0.627									Testicular Cancer, Familial Clustering of																												p.Q30K													.	.			0			c.C88A												18	21	20					5																	141694655		2113	4158	6271	SO:0001583	missense	81848	exon3	Familial Cancer Database		CGCTCTGTGGGAT	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.19C>A	5.37:g.141694655G>T	ENSP00000399468:p.Gln7Lys		39	0	0		39	0.08	3	NM_030964	137	0	0	A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238952	0.58995	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661;ENST00000511815	T;T	0.62232	0.04;0.04	5.5	5.5	0.81552	.	0.108319	0.64402	D	0.000007	T	0.46073	0.1374	N	0.08118	0	0.43467	D	0.995678	B;B	0.29301	0.241;0.039	B;B	0.27500	0.08;0.018	T	0.45323	-0.9269	10	0.45353	T	0.12	-16.3622	19.4011	0.94630	0.0:0.0:1.0:0.0	.	7;7	Q9C004-2;Q9C004	.;SPY4_HUMAN	K	30;7;7;7	ENSP00000344967:Q30K;ENSP00000399468:Q7K	ENSP00000344967:Q30K	Q	-	1	0	SPRY4	141674839	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.188000	0.94921	2.588000	0.87417	0.561000	0.74099	CAG			0.627	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370652.1				T	141694655	G	T	141694655	3	4	49	1	0	0	0	0	1	0	0	0	15131	1386	48	3	884	3	SPRY4	5	141694655	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	13894129	141694655	39220605	20	3481											
FAM8A1	51439	hgsc.bcm.edu	37	chr6	17602826	17602826	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaatttacaggcagaGaatatgttattccatccttg	11	18	6	6	0	0	1	0	0	0	1	2	2	2	1	2	1	1	2	2	1	5	9	rs74444948	byFrequency	TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr6:17602826G>T	ENST00000259963.3	+	2	773	c.718G>T	c.(718-720)Gaa>Taa	p.E240*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	240						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TACAGGCAGAGAATATGTTAT	0.328																																					p.E240X													FAM8A1,NS,carcinoma,-1,2	FAM8A1	-1	2	0			c.G718T												100	101	101					6																	17602826		2203	4299	6502	SO:0001587	stop_gained	51439	exon2			GGCAGAGAATATG	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.718G>T	6.37:g.17602826G>T	ENSP00000259963:p.Glu240*		49	0.0204081633	1		68	0.12	8	NM_016255	10	0	0	B2R725	Nonsense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	37	6.420554	0.97555	.	.	ENSG00000137414	ENST00000259963	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.04	18.5673	0.91121	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000259963:E240X	E	+	1	0	FAM8A1	17710805	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.467000	0.97671	2.356000	0.79943	0.644000	0.83932	GAA	0.008		0.328	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039950.1				T	17602826	G	T	17602826	4	4	49	1	0	0	0	0	0	1	0	0	5662	943	33	3	724	3	FAM8A1	6	17602826	Nonsense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		17602826	153512241	21	3482											
BCKDHB	594	broad.mit.edu	37	chr6	80838937	80838937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcactgttggcttgcgaGacaaatatggtaagtaaata	14	11	11	5	1	0	1	0	0	0	1	0	3	0	1	0	2	2	5	0	2	6	6			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr6:80838937G>T	ENST00000320393.6	+	3	381	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	BCKDHB_ENST00000356489.5_Missense_Mutation_p.D112Y|BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000545529.1_Missense_Mutation_p.D112Y|BCKDHB_ENST00000369760.4_Missense_Mutation_p.D112Y	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	112					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TGGCTTGCGAGACAAATATGG	0.269																																					p.D112Y													.	BCKDHB	36		0			c.G334T												109	115	113					6																	80838937		2203	4300	6503	SO:0001583	missense	594	exon3			TTGCGAGACAAAT	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.334G>T	6.37:g.80838937G>T	ENSP00000318351:p.Asp112Tyr		275	0	0		414	0.01	6	NM_000056	19	0	0	Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911592	0.72983	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.81	5.81	0.92471	Transketolase-like, pyrimidine-binding domain (2);	0.041988	0.85682	D	0.000000	D	0.96965	0.9009	H	0.95611	3.695	0.80722	D	1	D	0.64830	0.994	D	0.67103	0.949	D	0.97609	1.0128	10	0.87932	D	0	-25.3718	15.5827	0.76459	0.0:0.0:1.0:0.0	.	112	P21953	ODBB_HUMAN	Y	112;112;112;112;42	ENSP00000358775:D112Y;ENSP00000318351:D112Y;ENSP00000348880:D112Y;ENSP00000443564:D112Y	ENSP00000318351:D112Y	D	+	1	0	BCKDHB	80895656	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.620000	0.83070	2.746000	0.94184	0.655000	0.94253	GAC			0.269	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043911.2		NM_000056		T	80838937	G	T	80838937	3	4	49	1	0	0	0	0	1	0	0	0	1360	942	33	3	344	3	BCKDHB	6	80838937	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	63236111	80838937	90276130	22	3483											
DENND2A	27147	broad.mit.edu	37	chr7	140221669	140221669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctttggcatcctgcCggcgcagctcccgctcctgg	3	9	10	19	3	1	0	1	0	0	0	4	0	4	0	6	3	2	4	6	3	0	1	rs202110826		TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr7:140221669C>T	ENST00000275884.6	-	17	3314	c.2897G>A	c.(2896-2898)cGg>cAg	p.R966Q	DENND2A_ENST00000496613.1_Missense_Mutation_p.R966Q|DENND2A_ENST00000537639.1_Missense_Mutation_p.R966Q			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	966					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGCATCCTGCCGGCGCAGCTC	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		18306	0		0	False		,,,				2504	0				p.R966Q													.	DENND2A	132		0			c.G2897A												41	47	45					7																	140221669		2075	4236	6311	SO:0001583	missense	27147	exon16			TCCTGCCGGCGCA	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2897G>A	7.37:g.140221669C>T	ENSP00000275884:p.Arg966Gln		122	0	0		208	0.02	5	NM_015689	30	0	0	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.08	2.427419	0.43122	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613	T;T;T	0.04502	3.61;3.61;3.61	4.84	1.67	0.24075	.	0.228496	0.34411	N	0.003981	T	0.03053	0.0090	N	0.19112	0.55	0.33395	D	0.576662	B	0.13594	0.008	B	0.06405	0.002	T	0.20773	-1.0265	10	0.46703	T	0.11	-11.7899	5.6189	0.17446	0.0:0.4141:0.0:0.5859	.	966	Q9ULE3	DEN2A_HUMAN	Q	966	ENSP00000275884:R966Q;ENSP00000442245:R966Q;ENSP00000419654:R966Q	ENSP00000275884:R966Q	R	-	2	0	DENND2A	139868138	0.996000	0.38824	1.000000	0.80357	0.683000	0.39861	2.254000	0.43214	0.573000	0.29400	-0.355000	0.07637	CGG			0.582	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348742.1		NM_015689		T	140221669	C	T	140221669	3	4	49	1	0	0	0	0	1	0	0	0	4434	652	23	1	144	1	DENND2A	7	140221669	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10		140221669	18916994	23	3484											
TRPV5	56302	broad.mit.edu	37	chr7	142605705	142605705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtagacctcctctccaTccccctcactaaggttcagt	9	11	6	15	0	3	1	2	0	1	1	6	1	5	1	5	2	0	2	5	2	3	3			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr7:142605705T>C	ENST00000265310.1	-	15	2513	c.2165A>G	c.(2164-2166)gAt>gGt	p.D722G		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	722	Involved in Ca(2+)-dependent inactivation. {ECO:0000250}.				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)					CTCCTCTCCATCCCCCTCACT	0.567																																					p.D722G													.	TRPV5	164		0			c.A2165G												111	106	108					7																	142605705		2203	4300	6503	SO:0001583	missense	56302	exon15			TCTCCATCCCCCT	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.2165A>G	7.37:g.142605705T>C	ENSP00000265310:p.Asp722Gly		132	0	0		161	0.04	6	NM_019841	0		0	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	T	9.181	1.023601	0.19433	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.80566	-1.39;-1.39	4.99	4.99	0.66335	.	0.311301	0.31989	N	0.006744	T	0.74794	0.3763	L	0.60455	1.87	0.45354	D	0.998345	B	0.12630	0.006	B	0.08055	0.003	T	0.72250	-0.4348	10	0.51188	T	0.08	-15.0022	8.1594	0.31190	0.1917:0.0:0.0:0.8083	.	722	Q9NQA5	TRPV5_HUMAN	G	722;667	ENSP00000265310:D722G;ENSP00000406361:D667G	ENSP00000265310:D722G	D	-	2	0	TRPV5	142315827	0.933000	0.31639	0.795000	0.32087	0.049000	0.14656	2.797000	0.47877	2.113000	0.64589	0.533000	0.62120	GAT			0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347660.1		NM_019841		C	142605705	T	C	142605705	3	2	49	1	0	0	0	0	1	0	0	0	16623	1435	50	4	28	4	TRPV5	7	142605705	Missense_Mutation	SNP	T	TCGA-2G-AAHA-01A-11D-A42Y-10	2384036	142605705	16532958	24	3485											
CLDN23	137075	broad.mit.edu;mdanderson.org	37	chr8	8560263	8560263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcagggctctcgggcGtcgtgctcttcgtcgctggc	1	11	16	13	5	2	0	0	0	2	0	6	0	2	0	0	4	2	5	0	4	0	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr8:8560263G>T	ENST00000519106.1	+	1	816	c.355G>T	c.(355-357)Gtc>Ttc	p.V119F		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	119					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GCTCTCGGGCGTCGTGCTCTT	0.716																																					p.V119F													.	CLDN23	5		0			c.G355T												18	22	20					8																	8560263		2174	4254	6428	SO:0001583	missense	137075	exon1			TCGGGCGTCGTGC	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.355G>T	8.37:g.8560263G>T	ENSP00000428780:p.Val119Phe		48	0	0		53	0.06	3	NM_194284	1	0	0	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572970	0.28092	.	.	ENSG00000253958	ENST00000519106	D	0.89617	-2.54	4.69	-5.52	0.02560	.	.	.	.	.	D	0.85358	0.5678	M	0.64404	1.975	0.09310	N	1	P	0.39624	0.681	B	0.42495	0.389	T	0.78018	-0.2368	9	0.52906	T	0.07	.	7.1817	0.25776	0.0773:0.5817:0.1601:0.1809	.	119	Q96B33	CLD23_HUMAN	F	119	ENSP00000428780:V119F	ENSP00000428780:V119F	V	+	1	0	CLDN23	8597673	0.000000	0.05858	0.002000	0.10522	0.106000	0.19336	-0.660000	0.05317	-0.756000	0.04703	-1.752000	0.00675	GTC			0.716	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374721.1		NM_194284		T	8560263	G	T	8560263	3	4	49	1	0	0	0	0	1	0	0	0	3486	1145	40	1	357	1	CLDN23	8	8560263	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		8560263	137803759	25	3486											
PPP2R2A	5520	broad.mit.edu	37	chr8	26217684	26217684	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttattttcttcccaGataaaacaataaaattatgg	14	18	3	6	0	2	1	0	0	2	1	3	1	3	1	1	1	1	0	1	1	7	10			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr8:26217684G>T	ENST00000380737.3	+	5	675		c.e5-1		PPP2R2A_ENST00000315985.7_Splice_Site	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha						G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTTCTTCCCAGATAAAACAAT	0.318																																					.													.	PPP2R2A	44		0			c.347-1G>T												52	56	54					8																	26217684		2202	4297	6499	SO:0001630	splice_region_variant	5520	exon5			TTCCCAGATAAAA	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.347-1G>T	8.37:g.26217684G>T			53	0	0		54	0.06	3	NM_002717	1	0	0	B2RBU8|B4E1T7|P50409|Q00007	Splice_Site	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620661	0.66787	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0947	0.93246	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R2A	26273601	1.000000	0.71417	0.997000	0.53966	0.787000	0.44495	9.623000	0.98386	2.593000	0.87608	0.585000	0.79938	.			0.318	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375954.2		NM_002717	Intron	T	26217684	G	T	26217684	5	4	49	1	0	0	0	0	0	0	1	0	12404	956	33	3	405	3	PPP2R2A	8	26217684	Splice_Site	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	17657421	26217684	120146338	26	3487											
ADAM2	2515	broad.mit.edu	37	chr8	39694657	39694657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttagtgattcattacctGcgattcaattccttccttta	8	18	5	10	1	2	1	2	1	0	0	4	2	4	1	3	0	2	1	3	0	4	8			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr8:39694657G>T	ENST00000265708.4	-	2	233	c.130C>A	c.(130-132)Cag>Aag	p.Q44K	ADAM2_ENST00000347580.4_Missense_Mutation_p.Q44K|ADAM2_ENST00000379853.2_Missense_Mutation_p.Q44K|ADAM2_ENST00000521880.1_Missense_Mutation_p.Q44K|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	44					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTCATTACCTGCGATTCAATT	0.303																																					p.Q44K													.	ADAM2	124		0			c.C130A												69	69	69					8																	39694657		2203	4297	6500	SO:0001583	missense	2515	exon2			TTACCTGCGATTC	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.130C>A	8.37:g.39694657G>T	ENSP00000265708:p.Gln44Lys		151	0	0		227	0.02	5	NM_001464	0		0	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	8.232	0.804839	0.16467	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.05786	3.39;3.39;3.39;3.39	3.83	-7.52	0.01341	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.04679	0.0127	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.23249	0.051;0.004;0.082;0.051	B;B;B;B	0.28305	0.088;0.005;0.053;0.088	T	0.40813	-0.9543	8	.	.	.	.	9.3124	0.37912	0.0:0.3178:0.1463:0.5359	.	44;44;44;44	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	K	44	ENSP00000343854:Q44K;ENSP00000369182:Q44K;ENSP00000265708:Q44K;ENSP00000429352:Q44K	.	Q	-	1	0	ADAM2	39813814	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.802000	0.04545	-1.787000	0.01268	-0.302000	0.09304	CAG			0.303	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376926.1		NM_001464		T	39694657	G	T	39694657	3	4	49	1	0	0	0	0	1	0	0	0	241	1328	46	2	2153	2	ADAM2	8	39694657	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	13476973	39694657	106669365	27	3488											
PPAPDC2	403313	mdanderson.org	37	chr9	4662565	4662565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctccgtgcatcggagagcCcagttcaccgccgcggctcc	5	6	13	17	5	1	1	1	0	0	1	4	2	3	1	5	3	2	4	5	3	0	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr9:4662565C>A	ENST00000381883.2	+	1	268	c.190C>A	c.(190-192)Cca>Aca	p.P64T	SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000475086.1_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	64						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)		ATCGGAGAGCCCAGTTCACCG	0.751											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P64T	Melanoma(187;1057 3809 8526)												.	.			0			c.C190A												6	8	7					9																	4662565		1825	3757	5582	SO:0001583	missense	403313	exon1			GAGAGCCCAGTTC	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.190C>A	9.37:g.4662565C>A	ENSP00000371307:p.Pro64Thr		11	0	0	620	9	0.11	1	NM_203453	1	0	0	B3KY05|Q5JVJ6|Q8NCK9	Missense_Mutation	SNP	ENST00000381883.2	37	CCDS34981.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555498	0.86231	.	.	ENSG00000205808	ENST00000381883	T	0.18174	2.23	4.98	4.98	0.66077	.	0.068700	0.64402	U	0.000015	T	0.37210	0.0995	L	0.55481	1.735	0.53688	D	0.999974	D	0.89917	1.0	D	0.85130	0.997	T	0.02288	-1.1182	10	0.45353	T	0.12	-11.5397	15.7928	0.78380	0.0:1.0:0.0:0.0	.	64	Q8IY26	PPAC2_HUMAN	T	64	ENSP00000371307:P64T	ENSP00000371307:P64T	P	+	1	0	PPAPDC2	4652565	1.000000	0.71417	0.998000	0.56505	0.767000	0.43475	4.788000	0.62439	2.588000	0.87417	0.655000	0.94253	CCA			0.751	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051567.1		NM_203453		A	4662565	C	A	4662565	3	1	49	1	0	0	0	0	1	0	0	0	12312	623	22	3	192	3	PPAPDC2	9	4662565	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10		4662565	136550866	28	3489											
RUSC2	9853	broad.mit.edu	37	chr9	35556093	35556093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctatctttgagttccctgGctccctcagtgctgccagcc	4	12	8	17	0	2	1	1	1	1	0	4	1	4	1	5	1	3	3	5	1	1	3			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr9:35556093G>A	ENST00000455600.1	+	4	3370	c.2801G>A	c.(2800-2802)gGc>gAc	p.G934D		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	934						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTTCCCTGGCTCCCTCAGT	0.597																																					p.G934D													.	RUSC2	88		0			c.G2801A												47	46	47					9																	35556093		2203	4300	6503	SO:0001583	missense	9853	exon4			TCCCTGGCTCCCT	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2801G>A	9.37:g.35556093G>A	ENSP00000393922:p.Gly934Asp		153	0	0		190	0.03	5	NM_014806	65	0	0	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143155	0.57044	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.25414	1.8;1.8	5.58	5.58	0.84498	.	0.271376	0.37955	N	0.001868	T	0.27559	0.0677	L	0.44542	1.39	0.42620	D	0.993345	P	0.50066	0.931	B	0.41571	0.36	T	0.04140	-1.0974	10	0.62326	D	0.03	-11.6863	18.5361	0.91011	0.0:0.0:1.0:0.0	.	934	Q8N2Y8	RUSC2_HUMAN	D	934	ENSP00000355177:G934D;ENSP00000393922:G934D	ENSP00000355177:G934D	G	+	2	0	RUSC2	35546093	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.200000	0.65158	2.624000	0.88883	0.561000	0.74099	GGC			0.597	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052309.1		XM_048462		A	35556093	G	A	35556093	3	1	49	1	0	0	0	0	1	0	0	0	13774	1203	42	2	2811	2	RUSC2	9	35556093	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	30893528	35556093	105657338	29	3490											
ZNF618	114991	broad.mit.edu	37	chr9	116811230	116811230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgcctgcctaggcatcGgtgtcacctgccactcccag	7	8	10	16	1	1	0	1	0	0	0	3	0	2	0	5	2	3	2	5	2	2	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr9:116811230G>T	ENST00000374126.5	+	15	1747	c.1648G>T	c.(1648-1650)Ggt>Tgt	p.G550C	ZNF618_ENST00000288466.7_Missense_Mutation_p.G457C|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	550					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						CCTAGGCATCGGTGTCACCTG	0.577																																					p.G457C													.	ZNF618	184		0			c.G1369T												27	30	29					9																	116811230		2192	4281	6473	SO:0001583	missense	114991	exon14			GGCATCGGTGTCA	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.1648G>T	9.37:g.116811230G>T	ENSP00000363241:p.Gly550Cys		63	0	0		81	0.05	4	NM_133374	14	0	0	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	G	15.89	2.966665	0.53507	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T	0.02177	4.41	5.23	5.23	0.72850	Ribonuclease H-like (1);	0.053519	0.85682	D	0.000000	T	0.13200	0.0320	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.976;0.992	T	0.00187	-1.1941	9	0.66056	D	0.02	-21.4601	17.7931	0.88561	0.0:0.0:1.0:0.0	.	517;550;457	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	C	550;457	ENSP00000288466:G457C	ENSP00000288466:G457C	G	+	1	0	ZNF618	115851051	1.000000	0.71417	0.990000	0.47175	0.576000	0.36127	9.188000	0.94921	2.440000	0.82611	0.462000	0.41574	GGT			0.577	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000053749.1		XM_054983		T	116811230	G	T	116811230	3	4	49	1	0	0	0	0	1	0	0	0	18065	1116	39	1	1423	1	ZNF618	9	116811230	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	81255137	116811230	24402201	30	3491											
RAPGEF1	2889	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	134497251	134497253	+	In_Frame_Del	DEL	AGG	AGG	-																															cacggagtccaccccactgaAggagtcgctgaagccgtata																										TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	AGG	AGG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr9:134497251_134497253delAGG	ENST00000372189.3	-	11	1907_1909	c.1784_1786delCCT	c.(1783-1788)tccttc>ttc	p.S595del	RAPGEF1_ENST00000372195.1_In_Frame_Del_p.S612del|RAPGEF1_ENST00000372190.3_In_Frame_Del_p.S613del	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	595					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)		ACCCCACTGAAGGAGTCGCTGAA	0.606																																					p.613_614del													.	RAPGEF1	126		0			c.1839_1841del																																									SO:0001651	inframe_deletion	2889	exon11			CACTGAAGGAGTC	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.1784_1786delCCT	9.37:g.134497251_134497253delAGG	ENSP00000361263:p.Ser595del		143	0	0		144	0.16	23	NM_198679	93	0	0	Q5JUE4|Q8IV73	In_Frame_Del	DEL	ENST00000372189.3	37	CCDS48047.1																																																																																					0.606	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054759.2		NM_005312		-	134497253	AGG	-	134497251	7	5	49	1	0	1	0	1	0	0	0	0	13066	72	3	0	1503	0	RAPGEF1	9	134497251	In_Frame_Del	DEL	AGG	TCGA-2G-AAHA-01A-11D-A42Y-10	17686021	134497251	6716180	31	3492											
ADAMTS13	11093	mdanderson.org	37	chr9	136297802	136297802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggatgggacagaatgtGgcgtggagaaggtcagagcc	10	7	17	7	1	1	3	1	0	0	3	2	6	2	5	2	5	1	0	2	5	2	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr9:136297802G>T	ENST00000371929.3	+	9	1525	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.G33C|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G330C|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G361C|ADAMTS13_ENST00000371916.1_Silent_p.V260V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	361	Disintegrin.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GACAGAATGTGGCGTGGAGAA	0.622																																					p.G361C													.	.			0			c.G1081T												43	33	36					9																	136297802		2195	4277	6472	SO:0001583	missense	11093	exon9			GAATGTGGCGTGG	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1081G>T	9.37:g.136297802G>T	ENSP00000360997:p.Gly361Cys		27	0	0		27	0.07	2	NM_139025	0		0	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331211	0.41297	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.74421	-0.84;-0.82;-0.75;-0.2	5.35	4.46	0.54185	.	.	.	.	.	D	0.89319	0.6681	M	0.94142	3.5	0.53005	D	0.999964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.91715	0.5384	9	0.87932	D	0	.	13.279	0.60205	0.0765:0.0:0.9235:0.0	.	361;330;361	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	C	361;361;330;33	ENSP00000360997:G361C;ENSP00000347927:G361C;ENSP00000348997:G330C;ENSP00000444504:G33C	ENSP00000347927:G361C	G	+	1	0	ADAMTS13	135287623	1.000000	0.71417	0.128000	0.21923	0.004000	0.04260	6.857000	0.75455	1.247000	0.43917	-0.208000	0.12717	GGC			0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054920.1		NM_139025		T	136297802	G	T	136297802	3	4	49	1	0	0	0	0	1	0	0	0	258	1348	47	3	1115	3	ADAMTS13	9	136297802	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	1800551	136297802	4915629	32	3493											
UBAC1	10422	mdanderson.org	37	chr9	138852939	138852939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctccagccactcggCgccgtcggacgcgcagatgt	5	6	13	17	6	0	1	0	0	0	1	4	2	2	2	5	3	1	1	5	3	0	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr9:138852939C>T	ENST00000371756.3	-	1	287	c.70G>A	c.(70-72)Gcc>Acc	p.A24T		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	24	Ubiquitin-like.				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)		AGCCACTCGGCGCCGTCGGAC	0.711																																					p.A24T	NSCLC(78;973 1398 27381 29552 42415)												.	.			0			c.G70A												19	17	18					9																	138852939		2127	4182	6309	SO:0001583	missense	10422	exon1			ACTCGGCGCCGTC	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.70G>A	9.37:g.138852939C>T	ENSP00000360821:p.Ala24Thr		34	0	0		34	0.09	3	NM_016172	47	0	0	O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	c	5.136	0.210702	0.09757	.	.	ENSG00000130560	ENST00000371756	T	0.22539	1.95	3.92	-5.19	0.02832	.	0.570575	0.17950	N	0.156555	T	0.07007	0.0178	N	0.11560	0.145	0.21220	N	0.99976	B	0.06786	0.001	B	0.01281	0.0	T	0.34204	-0.9838	10	0.13108	T	0.6	-5.1291	6.5867	0.22624	0.123:0.3346:0.0:0.5424	.	24	Q9BSL1	UBAC1_HUMAN	T	24	ENSP00000360821:A24T	ENSP00000360821:A24T	A	-	1	0	UBAC1	137992760	0.403000	0.25319	0.856000	0.33681	0.190000	0.23558	-0.561000	0.05957	-1.060000	0.03189	-1.449000	0.01048	GCC			0.711	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055034.1		NM_016172		T	138852939	C	T	138852939	3	4	49	1	0	0	0	0	1	0	0	0	16858	768	27	1	1187	1	UBAC1	9	138852939	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	2555137	138852939	2360492	33	3494											
BNIP3	664	mdanderson.org	37	chr10	133784438	133784438	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcttcaagatgctttCaacttctttccttctttcaa	7	21	3	10	0	6	1	3	0	3	1	7	1	7	1	1	0	2	2	1	0	3	8			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr10:133784438C>A	ENST00000368636.4	-	4	443	c.319G>T	c.(319-321)Gaa>Taa	p.E107*	BNIP3_ENST00000540159.1_Nonsense_Mutation_p.E107*	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	107					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AAGATGCTTTCAACTTCTTTC	0.453																																					p.E107X													.	.			0			c.G319T												88	86	86					10																	133784438		2203	4300	6503	SO:0001587	stop_gained	664	exon4			TGCTTTCAACTTC	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.319G>T	10.37:g.133784438C>A	ENSP00000357625:p.Glu107*		65	0	0		50	0.06	3	NM_004052	438	0	0	O14620|Q96GP0	Nonsense_Mutation	SNP	ENST00000368636.4	37	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440668	0.96168	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.96	3.96	0.45880	.	0.049104	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.391	17.3272	0.87252	0.0:1.0:0.0:0.0	.	.	.	.	X	107	.	ENSP00000357625:E107X	E	-	1	0	BNIP3	133634428	1.000000	0.71417	0.833000	0.33012	0.916000	0.54674	6.576000	0.74023	2.506000	0.84524	0.655000	0.94253	GAA			0.453	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051039.1				A	133784438	C	A	133784438	4	1	49	1	0	0	0	0	0	1	0	0	1478	835	29	3	277	3	BNIP3	10	133784438	Nonsense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10		133784438	1750309	34	3495											
LTBP3	4054	broad.mit.edu	37	chr11	65325326	65325328	+	In_Frame_Del	DEL	CAG	CAG	-																															tcgaccctgccgcccaggccCagcagcagcagcagcagcag																								rs577530923	byFrequency	TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr11:65325326_65325328delCAG	ENST00000301873.5	-	1	371_373	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	LTBP3_ENST00000536982.1_5'Flank|LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	35	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	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						cgcccaggcccagcagcagcagc	0.818																																					p.35_35del													.	LTBP3	55		0			c.103_105del								,,	2,10,52		1,0,0,5,0,26					,,	2.7	1			1	37,32,177		18,0,1,14,4,86	no	codingComplex,utr-5,codingComplex	LTBP3	NM_021070.4,NM_001164266.1,NM_001130144.2	,,	19,0,1,19,4,112	A1A1,A1A2,A1R,A2A2,A2R,RR		28.0488,18.75,26.129	,,	,,		39,42,229				SO:0001651	inframe_deletion	4054	exon1			CAGGCCCAGCAGC	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.103_105delCTG	11.37:g.65325335_65325337delCAG	ENSP00000301873:p.Leu35del		7	0	0		10	0.4	4	NM_001130144	0		0	O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Del	DEL	ENST00000301873.5	37	CCDS44647.1																																																																																					0.818	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390538.1		NM_021070		-	65325328	CAG	-	65325326	7	5	49	1	0	1	0	1	0	0	0	0	9091	581	21	0	3918	0	LTBP3	11	65325326	In_Frame_Del	DEL	CAG	TCGA-2G-AAHA-01A-11D-A42Y-10		65325326	69681190	35	3496											
TMEM151A	256472	mdanderson.org	37	chr11	66062288	66062288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagccgcacggcccgcGgcgagtttgactactcggcg	6	6	14	15	7	0	2	0	2	0	0	1	3	0	2	2	3	2	2	2	3	1	2			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr11:66062288G>A	ENST00000327259.4	+	2	715	c.571G>A	c.(571-573)Ggc>Agc	p.G191S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	191						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						CACGGCCCGCGGCGAGTTTGA	0.697																																					p.G191S													.	.			0			c.G571A												4	4	4					11																	66062288		1928	3811	5739	SO:0001583	missense	256472	exon2			GCCCGCGGCGAGT	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"transmembrane protein 151"	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.571G>A	11.37:g.66062288G>A	ENSP00000326244:p.Gly191Ser		27	0	0		25	0.08	2	NM_153266	0		0	Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	G	5.215	0.225264	0.09916	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.57	4.57	0.56435	.	0.385122	0.25040	N	0.033615	T	0.07548	0.0190	N	0.00841	-1.15	0.27909	N	0.938704	B	0.24483	0.104	B	0.13407	0.009	T	0.29119	-1.0022	9	0.09590	T	0.72	.	5.7332	0.18051	0.0976:0.0:0.7073:0.1951	.	191	Q8N4L1	T151A_HUMAN	S	191	.	ENSP00000326244:G191S	G	+	1	0	TMEM151A	65818864	0.990000	0.36364	0.173000	0.22940	0.224000	0.24922	2.055000	0.41345	2.366000	0.80165	0.561000	0.74099	GGC			0.697	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391897.1		NM_153266		A	66062288	G	A	66062288	3	1	49	1	0	0	0	0	1	0	0	0	16093	1116	39	1	577	1	TMEM151A	11	66062288	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	736962	66062288	68944228	36	3497											
POLD3	10714	broad.mit.edu;mdanderson.org	37	chr11	74351712	74351712	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgccatgactgtgaaaaaAgaacccagagaggaacgaaa	18	4	10	9	1	0	4	0	2	0	2	0	7	0	5	3	1	3	0	3	1	6	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr11:74351712A>G	ENST00000263681.2	+	12	1431	c.1302A>G	c.(1300-1302)aaA>aaG	p.K434K	POLD3_ENST00000532497.1_Silent_p.K328K|POLD3_ENST00000527458.1_Silent_p.K395K	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	434					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|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)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CTGTGAAAAAAGAACCCAGAG	0.483																																					p.K434K													.	POLD3	87		0			c.A1302G												111	114	113					11																	74351712		2200	4293	6493	SO:0001819	synonymous_variant	10714	exon12			GAAAAAAGAACCC	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.1302A>G	11.37:g.74351712A>G			97	0	0		101	0.04	4	NM_006591	40	0	0	B7ZAI6|Q32MZ9|Q32N00	Silent	SNP	ENST00000263681.2	37	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250630	0.22880	.	.	ENSG00000077514	ENST00000532954	.	.	.	5.94	-0.437	0.12272	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45293	-0.9271	4	.	.	.	-42.5479	7.5286	0.27671	0.2723:0.167:0.5607:0.0	.	.	.	.	G	57	.	.	R	+	1	2	POLD3	74029360	0.976000	0.34144	0.996000	0.52242	0.996000	0.88848	0.021000	0.13489	-0.044000	0.13491	0.528000	0.53228	AGA			0.483	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385376.1		NM_006591		G	74351712	A	G	74351712	2	3	49	1	0	0	0	0	0	0	0	1	12209	69	3	4		4	POLD3	11	74351712	Silent	SNP	A	TCGA-2G-AAHA-01A-11D-A42Y-10	8289424	74351712	60654804	37	3498											
APOA4	337	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	116692311	116692311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtagggggtcagctggcGccgcagctgctcggcctgcg	3	7	18	13	5	1	0	1	0	0	0	2	0	1	0	2	4	5	5	2	4	1	1	rs558629714		TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr11:116692311G>A	ENST00000357780.3	-	3	577	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	155	13 X 22 AA approximate tandem repeats.				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)		GTCAGCTGGCGCCGCAGCTGC	0.697													G|||	1	0.000199681	0	0	5008	,	,		17787	0		0	False		,,,				2504	0.001				p.R155C													.	.			0			c.C463T												50	48	49					11																	116692311		2200	4295	6495	SO:0001583	missense	337	exon3			GCTGGCGCCGCAG		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.463C>T	11.37:g.116692311G>A	ENSP00000350425:p.Arg155Cys		38	0	0		43	0.26	11	NM_000482	0		0	A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930183	0.52866	.	.	ENSG00000110244	ENST00000357780	T	0.75050	-0.9	4.49	-0.0539	0.13816	Apolipoprotein/apolipophorin (1);	1.591660	0.03202	N	0.174891	D	0.86222	0.5881	M	0.84326	2.69	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.68047	-0.5512	10	0.66056	D	0.02	-0.9315	9.7419	0.40424	0.0:0.1237:0.4412:0.4351	.	155	P06727	APOA4_HUMAN	C	155	ENSP00000350425:R155C	ENSP00000350425:R155C	R	-	1	0	APOA4	116197521	0.000000	0.05858	0.003000	0.11579	0.749000	0.42624	-0.028000	0.12350	-0.164000	0.10927	0.462000	0.41574	CGC			0.697	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106279.2		NM_000482		A	116692311	G	A	116692311	3	1	49	1	0	0	0	0	1	0	0	0	783	1087	38	1	731	1	APOA4	11	116692311	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	42340599	116692311	18314205	38	3499											
IFFO1	25900	bcgsc.ca;mdanderson.org	37	chr12	6650731	6650731	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctccatctgcacgtccagGccgcgcttcatgctgcacat	6	10	9	16	3	3	0	1	0	2	0	5	0	4	0	3	1	3	4	3	1	0	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr12:6650731G>T	ENST00000396840.2	-	8	1562	c.1521C>A	c.(1519-1521)ggC>ggA	p.G507G	IFFO1_ENST00000336604.4_Silent_p.G510G|IFFO1_ENST00000436152.2_Silent_p.G204G|IFFO1_ENST00000356896.4_Silent_p.G511G|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000465801.1_Silent_p.G203G			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	507						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GCACGTCCAGGCCGCGCTTCA	0.667																																					p.G519G													.	IFFO1	55		0			c.C1557A												102	90	94					12																	6650731		2203	4300	6503	SO:0001819	synonymous_variant	25900	exon9			GTCCAGGCCGCGC	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.1521C>A	12.37:g.6650731G>T			84	0	0		103	0.05	5	NM_001193457	40	0	0	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37		.	.	.	.	.	.	.	.	.	.	G	10.48	1.361951	0.24684	.	.	ENSG00000010295	ENST00000416019	.	.	.	5.02	0.665	0.17896	.	.	.	.	.	T	0.54775	0.1879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48364	-0.9042	4	.	.	.	-18.864	7.8371	0.29376	0.2121:0.3867:0.4011:0.0	.	.	.	.	D	241	.	.	A	-	2	0	IFFO1	6520992	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	0.564000	0.23563	0.484000	0.27630	0.561000	0.74099	GCC			0.667	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000280428.1		NM_080730		T	6650731	G	T	6650731	2	4	49	1	0	0	0	0	0	0	0	1	7525	1190	42	2		2	IFFO1	12	6650731	Silent	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		6650731	127201164	39	3500											
BCL2L14	79370	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	12232368	12232368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagcacccctgctctcttCtcaccaaagctgctgagaac	11	8	7	15	0	2	2	1	1	2	2	4	3	2	2	3	0	5	4	3	0	3	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr12:12232368C>T	ENST00000308721.5	+	2	335	c.129C>T	c.(127-129)ttC>ttT	p.F43F	BCL2L14_ENST00000396367.1_Silent_p.F43F|BCL2L14_ENST00000586576.1_Silent_p.F76F|BCL2L14_ENST00000589718.1_Silent_p.F43F|BCL2L14_ENST00000266434.4_Silent_p.F43F|BCL2L14_ENST00000396369.1_Silent_p.F43F	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	43					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)		CTGCTCTCTTCTCACCAAAGC	0.468																																					p.F43F													.	.			0			c.C129T												78	74	75					12																	12232368		2203	4300	6503	SO:0001819	synonymous_variant	79370	exon2			TCTCTTCTCACCA	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.129C>T	12.37:g.12232368C>T			122	0	0		156	0.19	29	NM_138723	4	0	0	A8KAD0|Q96QR5|Q9BZR7	Silent	SNP	ENST00000308721.5	37	CCDS8645.1																																																																																					0.468	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355994.3		NM_030766		T	12232368	C	T	12232368	2	4	49	1	0	0	0	0	0	0	0	1	1372	912	32	3		3	BCL2L14	12	12232368	Silent	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	5581637	12232368	121619527	40	3501											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000311936.3_Missense_Mutation_p.G12A	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)																											p.G12A	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,NS,adenocarcinoma,0,25136	KRAS_ENST00000256078	0	25136	15813	Substitution - Missense(15812)|Deletion - Frameshift(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)	c.G35C												91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	exon2	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	ACGCCACCAGCTC	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>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala		197	0	0		285	0.17	48	NM_004985	16	0.19	3	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	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		G	25398284	C	G	25398284	3	3	49	1	0	0	0	0	1	0	0	0	8453	507	18	5	671	5	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	13165916	25398284	108453611	41	3502											
C12orf35	55196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	32134098	32134098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatatccaaaattatcCtcaacaaatttctgtttctg	13	15	4	9	0	3	1	1	1	2	0	5	1	5	1	2	0	1	2	2	0	7	4			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr12:32134098C>T	ENST00000312561.4	+	4	623	c.209C>T	c.(208-210)cCt>cTt	p.P70L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	70																	CAAAATTATCCTCAACAAATT	0.383																																					p.P70L													.	.			0			c.C209T												78	77	77					12																	32134098		2203	4300	6503	SO:0001583	missense	55196	exon4			ATTATCCTCAACA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.209C>T	12.37:g.32134098C>T	ENSP00000310338:p.Pro70Leu		114	0	0		163	0.17	28	NM_018169	81	0.15	12	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165946	0.38217	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08896	3.04;3.04	5.04	0.909	0.19332	.	0.306176	0.23307	N	0.049608	T	0.04182	0.0116	L	0.32530	0.975	0.09310	N	0.999991	B	0.33318	0.408	B	0.24269	0.052	T	0.36915	-0.9728	9	.	.	.	.	2.1437	0.03781	0.1561:0.5134:0.1518:0.1787	.	70	Q9HCM1	CL035_HUMAN	L	70	ENSP00000310338:P70L;ENSP00000370442:P70L	.	P	+	2	0	C12orf35	32025365	0.001000	0.12720	0.053000	0.19242	0.328000	0.28507	0.204000	0.17335	0.122000	0.18314	-0.145000	0.13849	CCT			0.383	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250307.2		NM_018169		T	32134098	C	T	32134098	3	4	49	1	0	0	0	0	1	0	0	0	1684	681	24	3	211	3	C12orf35	12	32134098	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	6735814	32134098	101717797	42	3503											
TPTE2	93492	bcgsc.ca	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	17	10	5	9	1	1	0	0	0	1	0	2	1	1	1	2	1	3	1	2	1	8	6	rs201542496		TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					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)		CGTTCTAACATACTTTAGCCA	0.313																																					p.M41V													.	TPTE2	225		0			c.A121G												47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492	exon5			CTAACATACTTTA	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.120-1A>G	13.37:g.20056686T>C			572	0.0052447552	3		586	0.02	13	NM_199254	0		0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG			0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_199254	Missense_Mutation	C	20056686	T	C	20056686	5	2	49	1	0	0	0	0	0	0	1	0	16455	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-2G-AAHA-01A-11D-A42Y-10		20056686	95113192	43	3504											
TPP2	7174	mdanderson.org	37	chr13	103290652	103290652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagttccgatcactgcaGttatagcagcaaagtaagta	14	10	9	8	1	2	1	2	0	0	1	3	2	3	1	1	0	3	7	1	0	5	5			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr13:103290652G>T	ENST00000376065.4	+	15	1936	c.1900G>T	c.(1900-1902)Gtt>Ttt	p.V634F	TPP2_ENST00000376052.3_Missense_Mutation_p.V634F	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	634					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATCACTGCAGTTATAGCAGC	0.388																																					p.V634F													.	.			0			c.G1900T												119	110	113					13																	103290652		2203	4300	6503	SO:0001583	missense	7174	exon15			ACTGCAGTTATAG	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1900G>T	13.37:g.103290652G>T	ENSP00000365233:p.Val634Phe		41	0	0		33	0.09	3	NM_003291	49	0	0	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874488	0.51695	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.32988	1.43;1.43	5.92	4.91	0.64330	.	0.121633	0.64402	D	0.000014	T	0.33323	0.0859	L	0.58510	1.815	0.48341	D	0.999635	B	0.31227	0.314	B	0.33799	0.17	T	0.19745	-1.0296	10	0.87932	D	0	-25.8458	13.2504	0.60048	0.0857:0.0:0.9143:0.0	.	634	P29144	TPP2_HUMAN	F	634	ENSP00000365233:V634F;ENSP00000365220:V634F	ENSP00000365220:V634F	V	+	1	0	TPP2	102088653	1.000000	0.71417	0.970000	0.41538	0.875000	0.50365	3.507000	0.53371	2.810000	0.96702	0.585000	0.79938	GTT			0.388	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045683.2				T	103290652	G	T	103290652	3	4	49	1	0	0	0	0	1	0	0	0	16436	1029	36	3	1958	3	TPP2	13	103290652	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	83233966	103290652	11879226	44	3505											
CLEC14A	161198	mdanderson.org	37	chr14	38725067	38725067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccccacctcgcaggatgCaggcctcctcggccgcctgc	4	5	12	20	4	0	0	0	0	0	0	3	1	1	1	7	3	2	2	7	3	0	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr14:38725067C>T	ENST00000342213.2	-	1	507	c.161G>A	c.(160-162)tGc>tAc	p.C54Y		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	54	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					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)		TCGCAGGATGCAGGCCTCCTC	0.756																																					p.C54Y													.	.			0			c.G161A												4	6	5					14																	38725067		2033	4040	6073	SO:0001583	missense	161198	exon1			AGGATGCAGGCCT		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.161G>A	14.37:g.38725067C>T	ENSP00000353013:p.Cys54Tyr		16	0	0		23	0.09	2	NM_175060	1	0	0	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933307	0.73442	.	.	ENSG00000176435	ENST00000342213	D	0.97575	-4.44	3.96	3.96	0.45880	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.53938	D	0.000056	D	0.97757	0.9264	L	0.61036	1.89	0.41825	D	0.990046	D	0.89917	1.0	D	0.85130	0.997	D	0.98045	1.0384	10	0.87932	D	0	-13.2967	13.8138	0.63278	0.0:1.0:0.0:0.0	.	54	Q86T13	CLC14_HUMAN	Y	54	ENSP00000353013:C54Y	ENSP00000353013:C54Y	C	-	2	0	CLEC14A	37794818	1.000000	0.71417	0.982000	0.44146	0.913000	0.54294	3.834000	0.55798	2.512000	0.84698	0.591000	0.81541	TGC			0.756	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276729.1		NM_175060		T	38725067	C	T	38725067	3	4	49	1	0	0	0	0	1	0	0	0	3501	710	25	2	1315	2	CLEC14A	14	38725067	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10		38725067	68624473	45	3506											
PNN	5411	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	39651005	39651005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcagagagtagtcgatcaGgcaaaagatcttcaagaagt	16	9	10	6	1	4	3	3	0	1	3	5	5	4	3	0	1	0	2	0	1	6	3			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr14:39651005G>T	ENST00000216832.4	+	9	2159	c.2092G>T	c.(2092-2094)Ggc>Tgc	p.G698C	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	698	Arg-rich.|Necessary for interaction with PPIG.|Ser-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)		TAGTCGATCAGGCAAAAGATC	0.413																																					p.G698C													.	.			0			c.G2092T												81	81	81					14																	39651005		2203	4300	6503	SO:0001583	missense	5411	exon9			CGATCAGGCAAAA	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.2092G>T	14.37:g.39651005G>T	ENSP00000216832:p.Gly698Cys		39	0	0		58	0.07	4	NM_002687	370	0	0	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207899	0.39003	.	.	ENSG00000100941	ENST00000216832	T	0.14144	2.53	6.13	6.13	0.99165	.	0.051702	0.85682	D	0.000000	T	0.29458	0.0734	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01090	-1.1455	10	0.72032	D	0.01	-8.686	20.8401	0.99726	0.0:0.0:1.0:0.0	.	698	Q9H307	PININ_HUMAN	C	698	ENSP00000216832:G698C	ENSP00000216832:G698C	G	+	1	0	PNN	38720756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.126000	0.77201	2.932000	0.99384	0.644000	0.83932	GGC			0.413	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276776.2		NM_002687		T	39651005	G	T	39651005	3	4	49	1	0	0	0	0	1	0	0	0	12177	1000	35	3	2126	3	PNN	14	39651005	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	925938	39651005	67698535	46	3507											
MTHFD1	4522	broad.mit.edu	37	chr14	64914955	64914955	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctggagctggttgaaaaAggcttcagtaacttgaagaa	15	9	11	6	0	1	3	1	2	0	1	1	4	1	4	1	3	3	4	1	3	6	4			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr14:64914955A>G	ENST00000545908.1	+	23	2596	c.2367A>G	c.(2365-2367)aaA>aaG	p.K789K	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Silent_p.K733K			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	733	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)	TGGTTGAAAAAGGCTTCAGTA	0.408																																					p.K733K	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												.	MTHFD1	61		0			c.A2199G												66	64	65					14																	64914955		2203	4300	6503	SO:0001819	synonymous_variant	4522	exon23			TGAAAAAGGCTTC	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.2367A>G	14.37:g.64914955A>G			92	0	0		116	0.03	4	NM_005956	251	0	0	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37																																																																																						0.408	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000412167.1				G	64914955	A	G	64914955	2	3	49	1	0	0	0	0	0	0	0	1	9943	69	3	4		4	MTHFD1	14	64914955	Silent	SNP	A	TCGA-2G-AAHA-01A-11D-A42Y-10	25263950	64914955	42434585	47	3508											
C14orf43	91748	broad.mit.edu	37	chr14	74194213	74194213	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagagaggacaggcggggTtacttcagcactgtctatgg	10	8	14	9	1	2	1	1	0	1	1	2	3	2	2	0	5	2	2	0	5	2	3			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr14:74194213T>G	ENST00000286523.5	-	5	2892	c.2110A>C	c.(2110-2112)Acc>Ccc	p.T704P	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.T704P	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	704					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										ACAGGCGGGGTTACTTCAGCA	0.597																																					p.T704P													.	.			0			c.A2110C												73	65	68					14																	74194213		2203	4300	6503	SO:0001583	missense	91748	exon5			GCGGGGTTACTTC	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2110A>C	14.37:g.74194213T>G	ENSP00000286523:p.Thr704Pro		45	0.2222222222	10		84	0.26	22	NM_194278	35	0.09	3	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378943	0.82682	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.17054	2.31;2.31;2.31;2.3	5.29	5.29	0.74685	.	0.086232	0.50627	D	0.000119	T	0.35711	0.0941	L	0.51422	1.61	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.963	T	0.04650	-1.0936	10	0.52906	T	0.07	-25.424	15.2644	0.73649	0.0:0.0:0.0:1.0	.	704;704	A0PJD3;Q6PJG2	.;CN043_HUMAN	P	704	ENSP00000377634:T704P;ENSP00000286523:T704P;ENSP00000407767:T704P;ENSP00000402380:T704P	ENSP00000286523:T704P	T	-	1	0	C14orf43	73263966	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.499000	0.81566	2.003000	0.58678	0.533000	0.62120	ACC			0.597	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317793.1		NM_194278		G	74194213	T	G	74194213	3	3	49	1	0	0	0	0	1	0	0	0	1776	1725	60	4	1059	4	C14orf43	14	74194213	Missense_Mutation	SNP	T	TCGA-2G-AAHA-01A-11D-A42Y-10	9279258	74194213	33155327	48	3509											
C14orf4	64207	mdanderson.org	37	chr14	77493340	77493340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggagtaccgcagcgctggCcgggccgttaagcagcgtct	6	6	17	12	5	1	0	0	0	1	0	1	1	1	1	3	4	4	5	3	4	2	2			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr14:77493340C>T	ENST00000238647.3	-	1	1694	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	266	Gly/Pro-rich.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GCAGCGCTGGCCGGGCCGTTA	0.766																																					p.A266T													.	.			0			c.G796A												2	3	2					14																	77493340		1656	3454	5110	SO:0001583	missense	64207	exon1			CGCTGGCCGGGCC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.796G>A	14.37:g.77493340C>T	ENSP00000238647:p.Ala266Thr		22	0	0		21	0.1	2	NM_024496	85	0	0	Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191845	0.38707	.	.	ENSG00000119669	ENST00000238647	T	0.68025	-0.3	4.13	3.22	0.36961	.	0.129222	0.28772	U	0.014198	T	0.41213	0.1149	N	0.08118	0	0.27879	N	0.939769	B	0.06786	0.001	B	0.01281	0.0	T	0.21177	-1.0253	10	0.17832	T	0.49	0.2127	9.2406	0.37493	0.0:0.895:0.0:0.105	.	266	Q9H1B7	I2BPL_HUMAN	T	266	ENSP00000238647:A266T	ENSP00000238647:A266T	A	-	1	0	IRF2BPL	76563093	0.007000	0.16637	0.982000	0.44146	0.406000	0.30931	-0.152000	0.10159	0.911000	0.36747	0.462000	0.41574	GCC			0.766	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414298.1		NM_024496		T	77493340	C	T	77493340	3	4	49	1	0	0	0	0	1	0	0	0	1775	739	26	2	1598	2	C14orf4	14	77493340	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	3299127	77493340	29856200	49	3510											
KIAA0284	283638	mdanderson.org	37	chr14	105352414	105352414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctgggggtcagaagtGggtgtcccgctgggccagcc	4	7	16	14	1	1	1	1	0	0	1	3	1	3	1	5	4	1	1	5	4	1	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr14:105352414G>T	ENST00000414716.3	+	11	2210	c.1982G>T	c.(1981-1983)tGg>tTg	p.W661L	CEP170B_ENST00000418279.1_Missense_Mutation_p.W591L|CEP170B_ENST00000453495.1_Missense_Mutation_p.W662L|CEP170B_ENST00000556508.1_Missense_Mutation_p.W591L	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	661						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGTCAGAAGTGGGTGTCCCGC	0.711																																					p.W661L													.	.			0			c.G1982T												13	19	17					14																	105352414		1868	3946	5814	SO:0001583	missense	283638	exon11			AGAAGTGGGTGTC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1982G>T	14.37:g.105352414G>T	ENSP00000404151:p.Trp661Leu		44	0	0		46	0.07	3	NM_001112726	15	0	0	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823910	0.90873	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000001	T	0.48554	0.1506	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.994;0.998	T	0.55496	-0.8132	10	0.72032	D	0.01	-24.5039	16.1897	0.81977	0.0:0.0:1.0:0.0	.	661;661;591	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	L	591;661;662;591	ENSP00000451249:W591L;ENSP00000404151:W661L;ENSP00000407238:W662L;ENSP00000415006:W591L	ENSP00000404151:W661L	W	+	2	0	KIAA0284	104423459	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.270000	0.95690	2.043000	0.60533	0.561000	0.74099	TGG			0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000410289.2		NM_001112726		T	105352414	G	T	105352414	3	4	49	1	0	0	0	0	1	0	0	0	8181	1357	47	3	2020	3	KIAA0284	14	105352414	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	27859074	105352414	1997126	50	3511											
LOXL1	4016	mdanderson.org	37	chr15	74219685	74219685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcgcccttcgtcagccaGtacgagaactacgaccccgc	9	5	10	17	5	1	1	1	0	0	1	2	3	1	1	4	1	4	1	4	1	3	3			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr15:74219685G>T	ENST00000261921.7	+	1	887	c.561G>T	c.(559-561)caG>caT	p.Q187H	LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000568229.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000562130.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000567644.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	187					extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCGTCAGCCAGTACGAGAACT	0.731																																					p.Q187H													.	.			0			c.G561T												31	37	35					15																	74219685		2154	4217	6371	SO:0001583	missense	4016	exon1			CAGCCAGTACGAG	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.561G>T	15.37:g.74219685G>T	ENSP00000261921:p.Gln187His		35	0	0		45	0.07	3	NM_005576	7	0	0	Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098684	0.56183	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.32272	1.46	3.87	0.804	0.18697	.	0.817355	0.11011	N	0.609425	T	0.44623	0.1302	L	0.50333	1.59	0.31281	N	0.690615	D	0.61697	0.99	D	0.70487	0.969	T	0.47114	-0.9142	10	0.59425	D	0.04	.	7.8367	0.29374	0.3007:0.0:0.6993:0.0	.	187	Q08397	LOXL1_HUMAN	H	187;49	ENSP00000261921:Q187H	ENSP00000261921:Q187H	Q	+	3	2	LOXL1	72006738	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.626000	0.46460	-0.145000	0.11294	-0.742000	0.03525	CAG			0.731	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268995.2		NM_005576		T	74219685	G	T	74219685	3	4	49	1	0	0	0	0	1	0	0	0	8915	1020	36	3	563	3	LOXL1	15	74219685	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		74219685	28311707	51	3512											
SCAMP2	10066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	75143705	75143705	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggactcacacatccacagaTagtagagcatcttgcatatc	13	9	8	11	0	2	2	1	0	1	2	4	3	3	3	1	1	2	3	1	1	3	4			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr15:75143705T>G	ENST00000268099.9	-	5	570	c.461A>C	c.(460-462)tAt>tCt	p.Y154S		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	154					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						CATCCACAGATAGTAGAGCAT	0.572																																					p.Y154S													.	.			0			c.A461C												89	78	82					15																	75143705		2197	4295	6492	SO:0001583	missense	10066	exon5			CACAGATAGTAGA	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.461A>C	15.37:g.75143705T>G	ENSP00000268099:p.Tyr154Ser		49	0	0		73	0.1	7	NM_005697	192	0.18	35	B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541239	0.85917	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.18657	2.2	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.78637	2.42	0.80722	D	1	D;P	0.56287	0.975;0.767	P;P	0.57548	0.823;0.673	T	0.30179	-0.9987	10	0.37606	T	0.19	-37.0366	14.8174	0.70045	0.0:0.0:0.0:1.0	.	154;123	O15127;B3KU14	SCAM2_HUMAN;.	S	154;123	ENSP00000268099:Y154S	ENSP00000268099:Y154S	Y	-	2	0	SCAMP2	72930758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.090000	0.63153	0.460000	0.39030	TAT			0.572	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286403.3		NM_005697		G	75143705	T	G	75143705	3	3	49	1	0	0	0	0	1	0	0	0	13894	1406	49	4	548	4	SCAMP2	15	75143705	Missense_Mutation	SNP	T	TCGA-2G-AAHA-01A-11D-A42Y-10	924020	75143705	27387687	52	3513											
NETO2	81831	mdanderson.org	37	chr16	47163244	47163244	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgccacactgggttgcAggaatatgcttgattccaat	12	11	9	9	0	0	1	0	1	0	0	1	2	1	2	2	2	3	3	2	2	4	4			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr16:47163244A>G	ENST00000562435.1	-	3	507	c.123T>C	c.(121-123)ccT>ccC	p.P41P	NETO2_ENST00000303155.5_Silent_p.P41P	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	41					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)				ACTGGGTTGCAGGAATATGCT	0.413										HNSCC(25;0.065)																											p.P41P													.	.			0			c.T123C												156	147	150					16																	47163244		2202	4300	6502	SO:0001819	synonymous_variant	81831	exon3			GGTTGCAGGAATA	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.123T>C	16.37:g.47163244A>G			42	0	0		47	0.06	3	NM_001201477	58	0	0	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Silent	SNP	ENST00000562435.1	37	CCDS10727.1																																																																																					0.413	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256766.2		NM_018092		G	47163244	A	G	47163244	2	3	49	1	0	0	0	0	0	0	0	1	10357	175	7	4		4	NETO2	16	47163244	Silent	SNP	A	TCGA-2G-AAHA-01A-11D-A42Y-10		47163244	43191509	53	3514											
PHKB	5257	mdanderson.org	37	chr16	47531334	47531334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttatgaacctcttaaaaGcattaatcttccaagacctg	14	13	5	9	0	2	2	0	1	2	1	3	2	3	2	3	0	2	2	3	0	6	5			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr16:47531334G>T	ENST00000323584.5	+	2	125	c.101G>T	c.(100-102)aGc>aTc	p.S34I	PHKB_ENST00000566044.1_Missense_Mutation_p.S27I|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Missense_Mutation_p.S34I|PHKB_ENST00000455779.1_Missense_Mutation_p.S27I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	34					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)|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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CCTCTTAAAAGCATTAATCTT	0.323																																					p.S34I													.	.			0			c.G101T												67	68	68					16																	47531334		2201	4300	6501	SO:0001583	missense	5257	exon2			TTAAAAGCATTAA		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.101G>T	16.37:g.47531334G>T	ENSP00000313504:p.Ser34Ile		48	0	0		50	0.06	3	NM_000293	35	0	0	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285185	0.59867	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D;D	0.91631	-2.88;-2.76;-2.77	5.9	5.9	0.94986	.	0.102545	0.64402	D	0.000002	D	0.86188	0.5873	N	0.08118	0	0.44754	D	0.997758	B;B;B	0.31548	0.012;0.259;0.328	B;B;B	0.34242	0.023;0.081;0.178	D	0.84146	0.0420	10	0.46703	T	0.11	-17.5941	20.2704	0.98474	0.0:0.0:1.0:0.0	.	27;34;27	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	I	27;27;34	ENSP00000299167:S27I;ENSP00000414345:S27I;ENSP00000313504:S34I	ENSP00000299167:S27I	S	+	2	0	PHKB	46088835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.827000	0.69300	2.793000	0.96121	0.591000	0.81541	AGC			0.323	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000430413.1				T	47531334	G	T	47531334	3	4	49	1	0	0	0	0	1	0	0	0	11862	971	34	2	166	2	PHKB	16	47531334	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	368090	47531334	42823419	54	3515											
HSF4	3299	mdanderson.org	37	chr16	67200242	67200242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaacgagatcttgtggCgggaggtggtgacacttcgg	8	8	18	7	3	1	3	0	1	1	2	2	5	1	4	0	6	1	1	0	6	1	2			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr16:67200242C>T	ENST00000521374.1	+	5	505	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	HSF4_ENST00000421453.1_Missense_Mutation_p.R169W|HSF4_ENST00000264009.8_Missense_Mutation_p.R169W|HSF4_ENST00000584272.1_Missense_Mutation_p.R169W|HSF4_ENST00000517867.1_3'UTR			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	169	Hydrophobic repeat HR-A/B.				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)		GATCTTGTGGCGGGAGGTGGT	0.637																																					p.R169W													.	.			0			c.C505T												27	36	33					16																	67200242		2104	4208	6312	SO:0001583	missense	3299	exon7			TTGTGGCGGGAGG	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.505C>T	16.37:g.67200242C>T	ENSP00000430947:p.Arg169Trp		89	0	0		104	0.05	5	NM_001538	4	0	0	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.02|13.02	2.110982|2.110982	0.37242|0.37242	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000517750|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729	.|.	.|.	.|.	4.75|4.75	2.73|2.73	0.32206|0.32206	.|.	.|0.056567	.|0.64402	.|D	.|0.000002	T|T	0.77837|0.77837	0.4190|0.4190	M|M	0.78285|0.78285	2.405|2.405	0.48236|0.48236	D|D	0.999618|0.999618	.|D;D	.|0.89917	.|1.0;0.998	.|D;P	.|0.77004	.|0.989;0.609	T|T	0.78843|0.78843	-0.2044|-0.2044	5|9	.|0.87932	.|D	.|0	-19.0782|-19.0782	13.713|13.713	0.62680|0.62680	0.4497:0.5503:0.0:0.0|0.4497:0.5503:0.0:0.0	.|.	.|169;169	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	V|W	15|169;169;169;169;106	.|.	.|ENSP00000264009:R169W	A|R	+|+	2|1	0|2	HSF4|HSF4	65757743|65757743	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.739000|0.739000	0.42172|0.42172	0.454000|0.454000	0.21827|0.21827	0.158000|0.158000	0.19367|0.19367	-1.367000|-1.367000	0.01198|0.01198	GCG|CGG			0.637	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375080.1		NM_001538		T	67200242	C	T	67200242	3	4	49	1	0	0	0	0	1	0	0	0	7413	759	27	1	523	1	HSF4	16	67200242	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	19668908	67200242	23154511	55	3516											
ANKRD11	29123	broad.mit.edu	37	chr16	89351844	89351844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtttcttttctgtagtccTttttcaataggtgcttgtcg	4	21	8	8	2	3	0	1	0	2	0	6	0	4	0	1	1	1	3	1	1	3	8			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr16:89351844T>C	ENST00000301030.4	-	9	1566	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369					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)		TCTGTAGTCCTTTTTCAATAG	0.453																																					p.K369R													.	ANKRD11	195		0			c.A1106G												158	162	160					16																	89351844		2198	4300	6498	SO:0001583	missense	29123	exon9			TAGTCCTTTTTCA	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.1106A>G	16.37:g.89351844T>C	ENSP00000301030:p.Lys369Arg		147	0	0		172	0.02	4	NM_001256183	79	0	0	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112102	0.56398	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.46063	0.88;0.88	5.4	5.4	0.78164	.	0.046390	0.85682	N	0.000000	T	0.63189	0.2490	M	0.71581	2.175	0.80722	D	1	D	0.59767	0.986	D	0.69654	0.965	T	0.66666	-0.5866	10	0.62326	D	0.03	.	15.4164	0.74974	0.0:0.0:0.0:1.0	.	369	Q6UB99	ANR11_HUMAN	R	369;369;383	ENSP00000301030:K369R;ENSP00000367581:K369R	ENSP00000301030:K369R	K	-	2	0	ANKRD11	87879345	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.836000	0.86788	2.052000	0.61016	0.460000	0.39030	AAG			0.453	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		C	89351844	T	C	89351844	3	2	49	1	0	0	0	0	1	0	0	0	639	1609	56	4	6905	4	ANKRD11	16	89351844	Missense_Mutation	SNP	T	TCGA-2G-AAHA-01A-11D-A42Y-10	22151602	89351844	1002909	56	3517											
PHF23	79142	mdanderson.org	37	chr17	7140047	7140047	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggccgcactctctcctcGcaatggagagctggagccag	7	7	13	14	3	1	1	0	0	1	1	5	3	2	2	3	3	2	3	3	3	1	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr17:7140047G>T	ENST00000320316.3	-	4	425	c.199C>A	c.(199-201)Cga>Aga	p.R67R	DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000454255.2_Silent_p.R63R|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000571362.1_Intron	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	67							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CTCTCTCCTCGCAATGGAGAG	0.552																																					p.R67R													.	.			0			c.C199A												59	65	63					17																	7140047		1918	4143	6061	SO:0001819	synonymous_variant	79142	exon4			CTCCTCGCAATGG	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.199C>A	17.37:g.7140047G>T			60	0	0		52	0.06	3	NM_024297	163	0	0	A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Silent	SNP	ENST00000320316.3	37	CCDS42250.1																																																																																					0.552	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440047.1		NM_024297		T	7140047	G	T	7140047	2	4	49	1	0	0	0	0	0	0	0	1	11852	1095	38	1		1	PHF23	17	7140047	Silent	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		7140047	74055163	57	3518											
MYOCD	93649	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	12656145	12656145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttctgagctggatgggctgGactccgagaaggacaagatg	10	8	15	8	1	1	3	0	1	1	2	2	7	2	6	1	4	1	2	1	4	2	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr17:12656145G>A	ENST00000343344.4	+	10	1540	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	AC005358.1_ENST00000609971.1_Missense_Mutation_p.D418N|MYOCD_ENST00000425538.1_Missense_Mutation_p.D514N|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	514					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)		GGATGGGCTGGACTCCGAGAA	0.577																																					p.D514N													.	MYOCD	291		0			c.G1540A												46	44	44					17																	12656145		2203	4300	6503	SO:0001583	missense	93649	exon10			GGGCTGGACTCCG	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.1540G>A	17.37:g.12656145G>A	ENSP00000341835:p.Asp514Asn		137	0.0072992701	1		129	0.18	23	NM_001146312	0		0	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767993	0.90020	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.47869	0.85;0.83	5.86	5.86	0.93980	.	0.097175	0.64402	D	0.000002	T	0.68192	0.2974	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.74348	0.972;0.983;0.983;0.972	T	0.62803	-0.6777	10	0.30854	T	0.27	-25.0202	18.9569	0.92662	0.0:0.0:1.0:0.0	.	233;418;514;514	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	N	233;514;514;418;219	ENSP00000341835:D514N;ENSP00000400148:D219N	ENSP00000341835:D514N	D	+	1	0	MYOCD	12596870	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	9.264000	0.95635	2.766000	0.95052	0.591000	0.81541	GAC			0.577	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129950.1		NM_153604		A	12656145	G	A	12656145	3	1	49	1	0	0	0	0	1	0	0	0	10103	1174	41	3	1578	3	MYOCD	17	12656145	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	5516098	12656145	68539065	58	3519											
MYO1D	4642	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	31094740	31094740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcatggcatcagcaacaaCtctgaattcggcagcatcat	12	11	7	11	1	4	1	3	1	1	0	5	1	4	1	0	2	4	4	0	2	3	2			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr17:31094740C>T	ENST00000318217.5	-	7	1049	c.745G>A	c.(745-747)Gtt>Att	p.V249I	MYO1D_ENST00000583621.1_Missense_Mutation_p.V249I|MYO1D_ENST00000394649.4_Missense_Mutation_p.V161I|MYO1D_ENST00000579584.1_Missense_Mutation_p.V249I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	249	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)			TCAGCAACAACTCTGAATTCG	0.378																																					p.V249I													.	MYO1D	93		0			c.G745A												97	83	88					17																	31094740		2203	4300	6503	SO:0001583	missense	4642	exon7			CAACAACTCTGAA	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.745G>A	17.37:g.31094740C>T	ENSP00000324527:p.Val249Ile		56	0	0		49	0.1	5	NM_015194	16	0.44	7	A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993264	0.74703	.	.	ENSG00000176658	ENST00000318217	D	0.86956	-2.19	6.0	6.0	0.97389	Myosin head, motor domain (2);	0.468881	0.15324	U	0.268393	T	0.82235	0.4993	N	0.16307	0.4	0.38583	D	0.95023	B;B	0.12630	0.006;0.003	B;B	0.28305	0.088;0.063	T	0.77120	-0.2705	10	0.56958	D	0.05	.	17.9887	0.89162	0.0:1.0:0.0:0.0	.	160;249	Q7Z3N6;O94832	.;MYO1D_HUMAN	I	249	ENSP00000324527:V249I	ENSP00000324527:V249I	V	-	1	0	MYO1D	28118853	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.783000	0.68982	2.848000	0.98002	0.655000	0.94253	GTT			0.378	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447457.1				T	31094740	C	T	31094740	3	4	49	1	0	0	0	0	1	0	0	0	10087	565	20	3	2339	3	MYO1D	17	31094740	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	18438595	31094740	50100470	59	3520											
KIF19	124602	mdanderson.org	37	chr17	72350311	72350311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgcagagaggaaggaGatcctgactggcaccaagtg	11	5	14	11	1	0	3	0	1	0	2	1	6	1	4	3	3	1	3	3	3	2	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr17:72350311G>T	ENST00000389916.4	+	18	2457	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	773					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGGAAGGAGATCCTGACTG	0.657																																					p.E773D													.	.			0			c.G2319T												60	72	68					17																	72350311		2049	4183	6232	SO:0001583	missense	124602	exon18			GAAGGAGATCCTG	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2319G>T	17.37:g.72350311G>T	ENSP00000374566:p.Glu773Asp		29	0	0		49	0.06	3	NM_153209	0		0	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987833	0.53934	.	.	ENSG00000196169	ENST00000389916	T	0.72615	-0.67	5.25	1.03	0.20045	.	.	.	.	.	T	0.61615	0.2361	L	0.59436	1.845	0.26918	N	0.966735	B	0.27559	0.181	B	0.21708	0.036	T	0.46735	-0.9170	9	0.23891	T	0.37	.	8.9713	0.35908	0.3746:0.0:0.6254:0.0	.	773	Q2TAC6	KIF19_HUMAN	D	773	ENSP00000374566:E773D	ENSP00000374566:E773D	E	+	3	2	KIF19	69861906	1.000000	0.71417	0.707000	0.30419	0.886000	0.51366	2.233000	0.43027	-0.004000	0.14419	0.556000	0.70494	GAG			0.657	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319644.2		NM_153209		T	72350311	G	T	72350311	3	4	49	1	0	0	0	0	1	0	0	0	8297	933	33	3	2389	3	KIF19	17	72350311	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	41255571	72350311	8844899	60	3521											
FBF1	85302	mdanderson.org	37	chr17	73909787	73909787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggagccactcaccactCtggctggaggctgcagggcc	6	8	13	14	0	3	0	1	0	2	0	3	2	3	2	3	5	2	3	3	5	0	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr17:73909787C>A	ENST00000586717.1	-	27	3471	c.3198G>T	c.(3196-3198)caG>caT	p.Q1066H	FBF1_ENST00000319129.5_Missense_Mutation_p.Q1066H|RP11-552F3.12_ENST00000587556.1_Missense_Mutation_p.Q8H|FBF1_ENST00000389570.4_Missense_Mutation_p.Q1067H			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	1066					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						ACTCACCACTCTGGCTGGAGG	0.692																																					p.Q1066H													.	.			0			c.G3198T												12	14	14					17																	73909787		1921	4101	6022	SO:0001583	missense	85302	exon27			ACCACTCTGGCTG	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.3198G>T	17.37:g.73909787C>A	ENSP00000465132:p.Gln1066His		14	0	0		18	0.11	2	NM_001080542	16	0	0	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37		.	.	.	.	.	.	.	.	.	.	C	7.182	0.589847	0.13812	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.18657	2.2;2.2	5.37	-0.191	0.13252	.	.	.	.	.	T	0.12518	0.0304	L	0.29908	0.895	0.09310	N	1	P;P	0.41041	0.699;0.736	B;B	0.38194	0.267;0.264	T	0.17806	-1.0357	9	0.34782	T	0.22	.	4.9472	0.13994	0.1369:0.5501:0.0:0.313	.	1081;1066	Q8TES7-6;A6NLR5	.;.	H	1067;1066;1080	ENSP00000374221:Q1067H;ENSP00000324292:Q1066H	ENSP00000324292:Q1066H	Q	-	3	2	FBF1	71421382	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.473000	0.06615	-0.230000	0.09840	0.557000	0.71058	CAG			0.692	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000448945.2		NM_001080542		A	73909787	C	A	73909787	3	1	49	1	0	0	0	0	1	0	0	0	5708	912	32	3	215	3	FBF1	17	73909787	Missense_Mutation	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	1559476	73909787	7285423	61	3522											
MED16	10025	mdanderson.org	37	chr19	886142	886142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggcttgccgccgaacagCgtgagcgacggtgagaactt	9	7	15	10	5	0	2	0	2	0	1	0	5	0	2	2	2	5	1	2	2	2	2			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr19:886142C>T	ENST00000589119.1	-	4	506	c.507G>A	c.(505-507)acG>acA	p.T169T	MED16_ENST00000269814.4_Silent_p.T169T|MED16_ENST00000325464.1_Silent_p.T169T|MED16_ENST00000312090.6_Silent_p.T169T|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.T169T			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	169					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)		CGCCGAACAGCGTGAGCGACG	0.677																																					p.T169T													.	.			0			c.G507A												19	16	17					19																	886142		2131	4167	6298	SO:0001819	synonymous_variant	10025	exon5			GAACAGCGTGAGC	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.507G>A	19.37:g.886142C>T			17	0	0		23	0.13	3	NM_005481	30	0	0	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	CCDS12047.1																																																																																					0.677	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457902.3		NM_005481		T	886142	C	T	886142	2	4	49	1	0	0	0	0	0	0	0	1	9450	755	27	1		1	MED16	19	886142	Silent	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10		886142	58242841	62	3523											
LYL1	4066	broad.mit.edu	37	chr19	13211480	13211480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacactcaccctcagccaGgtccagctcacagtggcttg	8	7	8	18	0	3	0	3	0	0	0	4	0	4	0	4	2	2	2	4	2	0	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr19:13211480G>T	ENST00000264824.4	-	3	778	c.418C>A	c.(418-420)Ctg>Atg	p.L140M		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	140					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			CCCTCAGCCAGGTCCAGCTCA	0.577			T	TRB@	T-ALL																																p.L140M				Dom	yes		19	19p13.2-p13.1	4066	lymphoblastic leukemia derived sequence 1		L	.	LYL1	17		0			c.C418A												247	234	238					19																	13211480		2203	4300	6503	SO:0001583	missense	4066	exon3			CAGCCAGGTCCAG		CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"Basic helix-loop-helix proteins"	6734	protein-coding gene	gene with protein product		151440	"lymphoblastic leukemia derived sequence 1"			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.418C>A	19.37:g.13211480G>T	ENSP00000264824:p.Leu140Met		160	0	0		221	0.02	5	NM_005583	24	0	0	O76102	Missense_Mutation	SNP	ENST00000264824.4	37	CCDS12292.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234626	0.58886	.	.	ENSG00000104903	ENST00000264824	D	0.97791	-4.54	4.32	3.27	0.37495	.	0.140395	0.31210	N	0.008045	D	0.94145	0.8122	L	0.42245	1.32	0.27546	N	0.950633	P	0.45902	0.868	B	0.40940	0.344	D	0.89404	0.3698	10	0.42905	T	0.14	-14.7905	5.0474	0.14490	0.1137:0.0:0.68:0.2062	.	140	P12980	LYL1_HUMAN	M	140	ENSP00000264824:L140M	ENSP00000264824:L140M	L	-	1	2	LYL1	13072480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.653000	0.24902	0.908000	0.36671	0.561000	0.74099	CTG			0.577	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452827.1		NM_005583		T	13211480	G	T	13211480	3	4	49	1	0	0	0	0	1	0	0	0	9122	991	35	3	432	3	LYL1	19	13211480	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	12325338	13211480	45917503	63	3524											
PRX	57716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	40901937	40901937	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggagccctgggcagcttCacctctggtgccttcggaag	5	9	13	14	2	2	0	1	0	1	0	4	2	3	2	4	4	3	2	4	4	1	2			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr19:40901937C>A	ENST00000324001.7	-	7	2592	c.2322G>T	c.(2320-2322)gtG>gtT	p.V774V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	774	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGCAGCTTCACCTCTGGTG	0.587																																					p.V774V													.	.			0			c.G2322T												107	98	101					19																	40901937		2203	4300	6503	SO:0001819	synonymous_variant	57716	exon7			CAGCTTCACCTCT	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2322G>T	19.37:g.40901937C>A			64	0	0		88	0.38	33	NM_181882	6	0.67	4	Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																					0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000462582.1		NM_020956		A	40901937	C	A	40901937	2	1	49	1	0	0	0	0	0	0	0	1	12662	813	29	3		3	PRX	19	40901937	Silent	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10	27690457	40901937	18227046	64	3525											
RALY	22913	broad.mit.edu	37	chr20	32664877	32664877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgccggcggcggcggCggtggtggtggcagcggtgg	1	5	26	9	7	0	0	0	0	0	0	0	0	0	0	1	12	1	1	1	12	0	0	rs539352667	byFrequency	TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr20:32664877C>T	ENST00000246194.3	+	8	1204	c.702C>T	c.(700-702)ggC>ggT	p.G234G	RALY_ENST00000375114.3_Silent_p.G218G	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	234	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						gcggcggcggcggtggtggtg	0.667																																					p.G234G													.	RALY	44		0			c.C702T												5	7	7					20																	32664877		2080	4086	6166	SO:0001819	synonymous_variant	22913	exon8			CGGCGGCGGTGGT	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.702C>T	20.37:g.32664877C>T			92	0.0108695652	1		150	0.03	4	NM_016732	140	0.01	2	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Silent	SNP	ENST00000246194.3	37	CCDS13230.1																																																																																					0.667	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078753.1				T	32664877	C	T	32664877	2	4	49	1	0	0	0	0	0	0	0	1	13042	755	27	1		1	RALY	20	32664877	Silent	SNP	C	TCGA-2G-AAHA-01A-11D-A42Y-10		32664877	30360643	65	3526											
PTPRT	11122	broad.mit.edu	37	chr20	40790055	40790055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgatgtgctgcagcaaGtcagccacccggatggcggg	7	7	16	11	3	1	1	1	1	0	0	1	2	1	2	2	3	5	3	2	3	1	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr20:40790055G>T	ENST00000373187.1	-	17	2618	c.2619C>A	c.(2617-2619)gaC>gaA	p.D873E	PTPRT_ENST00000373190.1_Missense_Mutation_p.D872E|PTPRT_ENST00000373201.1_Missense_Mutation_p.D863E|PTPRT_ENST00000373193.3_Missense_Mutation_p.D876E|PTPRT_ENST00000373184.1_Missense_Mutation_p.D863E|PTPRT_ENST00000356100.2_Missense_Mutation_p.D882E|PTPRT_ENST00000373198.4_Missense_Mutation_p.D892E			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	873					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)				GCTGCAGCAAGTCAGCCACCC	0.587																																					p.D892E													PTPRT,bladder,carcinoma,-2,1	PTPRT	372	1	0			c.C2676A												74	79	78					20																	40790055		2114	4252	6366	SO:0001583	missense	11122	exon18			CAGCAAGTCAGCC	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.2619C>A	20.37:g.40790055G>T	ENSP00000362283:p.Asp873Glu		184	0	0		207	0.02	5	NM_133170	2	0	0	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139960	0.77775	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.35	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	M	0.75615	2.305	0.58432	D	0.999999	D;D	0.63880	0.993;0.987	P;P	0.62089	0.898;0.85	T	0.58662	-0.7597	10	0.87932	D	0	.	14.0586	0.64786	0.0728:0.0:0.9272:0.0	.	895;873	O14522-1;O14522	.;PTPRT_HUMAN	E	872;873;876;882;895;863;863	ENSP00000362286:D872E;ENSP00000362283:D873E;ENSP00000362289:D876E;ENSP00000348408:D882E;ENSP00000362294:D895E;ENSP00000362280:D863E;ENSP00000362297:D863E	ENSP00000348408:D882E	D	-	3	2	PTPRT	40223469	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.983000	0.49345	1.250000	0.43966	0.650000	0.86243	GAC			0.587	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000080315.1				T	40790055	G	T	40790055	3	4	49	1	0	0	0	0	1	0	0	0	12835	1020	36	3	1766	3	PTPRT	20	40790055	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	8125178	40790055	22235465	66	3527											
UCKL1	54963	mdanderson.org	37	chr20	62572531	62572531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagcgtccggggcagcggGtggcactggtgtgccgaggc	4	6	19	12	4	1	0	1	0	0	0	2	1	2	0	2	6	3	2	2	6	0	0			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr20:62572531G>T	ENST00000354216.6	-	9	996	c.954C>A	c.(952-954)caC>caA	p.H318Q	MIR1914_ENST00000607800.1_RNA|UCKL1_ENST00000358711.3_Missense_Mutation_p.P313T|UCKL1_ENST00000369892.3_Missense_Mutation_p.H318Q|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Missense_Mutation_p.H303Q	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	318					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGGCAGCGGGTGGCACTGGT	0.692																																					p.H318Q													.	.			0			c.C954A												13	14	14					20																	62572531		2168	4275	6443	SO:0001583	missense	54963	exon9			CAGCGGGTGGCAC	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.954C>A	20.37:g.62572531G>T	ENSP00000346155:p.His318Gln		14	0	0		24	0.08	2	NM_017859	77	0	0	B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	CCDS13547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.751|0.751	-0.772899|-0.772899	0.02951|0.02951	.|.	.|.	ENSG00000198276|ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000369908|ENST00000358711	.|.	.|.	.|.	5.07|5.07	2.03|2.03	0.26663|0.26663	.|.	0.182461|.	0.49916|.	D|.	0.000127|.	T|T	0.03871|0.03871	0.0109|0.0109	N|N	0.00043|0.00043	-2.465|-2.465	0.29111|0.29111	N|N	0.880881|0.880881	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.36163|0.36163	-0.9759|-0.9759	9|6	0.07325|0.13853	T|T	0.83|0.58	-36.0421|-36.0421	5.2593|5.2593	0.15563|0.15563	0.2464:0.1483:0.6053:0.0|0.2464:0.1483:0.6053:0.0	.|.	303;318|.	B7Z8N2;Q9NWZ5|.	.;UCKL1_HUMAN|.	Q|T	318;318;303|313	.|.	ENSP00000346155:H318Q|ENSP00000351546:P313T	H|P	-|-	3|1	2|0	UCKL1|UCKL1	62042975|62042975	0.890000|0.890000	0.30428|0.30428	1.000000|1.000000	0.80357|0.80357	0.299000|0.299000	0.27559|0.27559	0.013000|0.013000	0.13310|0.13310	0.518000|0.518000	0.28383|0.28383	-0.266000|-0.266000	0.10368|0.10368	CAC|CCC			0.692	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000080236.1		NM_017859		T	62572531	G	T	62572531	3	4	49	1	0	0	0	0	1	0	0	0	16949	1252	44	3	720	3	UCKL1	20	62572531	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	21782476	62572531	452989	67	3528											
KRTAP10-4	386672	mdanderson.org	37	chr21	45994676	45994676	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatctagctgccagccAgcttgctgcaccacctcctg	8	8	8	17	0	1	0	0	0	1	0	2	0	2	0	5	0	7	5	5	0	2	2			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr21:45994676A>G	ENST00000400374.3	+	1	1071	c.1041A>G	c.(1039-1041)ccA>ccG	p.P347P	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	347	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						GCTGCCAGCCAGCTTGCTGCA	0.662																																					p.P347P													.	.			0			c.A1041G												102	112	109					21																	45994676		2203	4300	6503	SO:0001819	synonymous_variant	386672	exon1			CCAGCCAGCTTGC	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.1041A>G	21.37:g.45994676A>G			30	0	0		52	0.1	5	NM_198687	0		0	Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																					0.662	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128045.1		NM_198687		G	45994676	A	G	45994676	2	3	49	1	0	0	0	0	0	0	0	1	8526	175	7	4		4	KRTAP10-4	21	45994676	Silent	SNP	A	TCGA-2G-AAHA-01A-11D-A42Y-10		45994676	2135219	68	3529											
BRD1	23774	mdanderson.org	37	chr22	50192713	50192713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggtcgtgccgcagccGctgccagtacttcagcttct	5	10	10	16	3	2	0	1	0	1	0	4	0	3	0	4	1	5	4	4	1	1	3			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chr22:50192713G>A	ENST00000216267.8	-	3	2065	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	BRD1_ENST00000342989.5_Missense_Mutation_p.R122W|BRD1_ENST00000457780.2_Missense_Mutation_p.R527W|BRD1_ENST00000404760.1_Missense_Mutation_p.R527W|BRD1_ENST00000542442.1_Missense_Mutation_p.R220W|BRD1_ENST00000404034.1_Missense_Mutation_p.R527W	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	527					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCCGCAGCCGCTGCCAGTAC	0.602																																					p.R527W													.	.			0			c.C1579T												66	62	63					22																	50192713		2203	4300	6503	SO:0001583	missense	23774	exon3			GCAGCCGCTGCCA	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1579C>T	22.37:g.50192713G>A	ENSP00000216267:p.Arg527Trp		36	0	0		50	0.06	3	NM_014577	40	0	0	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039074	0.55003	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989	T;T;T;T;T;T	0.42513	2.45;2.45;2.43;2.27;0.97;0.97	4.39	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.82193	2.58	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	0.996;0.998;0.991;0.998	T	0.72431	-0.4296	10	0.72032	D	0.01	.	13.7903	0.63135	0.0:0.0:0.7774:0.2226	.	527;122;527;527	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	W	527;527;527;527;220;122	ENSP00000216267:R527W;ENSP00000384076:R527W;ENSP00000385858:R527W;ENSP00000410042:R527W;ENSP00000437514:R220W;ENSP00000345886:R122W	ENSP00000216267:R527W	R	-	1	2	BRD1	48578717	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.932000	0.28884	2.171000	0.68590	0.655000	0.94253	CGG			0.602	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317402.1		NM_014577		A	50192713	G	A	50192713	3	1	49	1	0	0	0	0	1	0	0	0	1503	1086	38	1	1637	1	BRD1	22	50192713	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		50192713	1111853	69	3530											
PNPLA4	8228	broad.mit.edu	37	chrX	7868821	7868821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcttgcttgggggaaaaAgggcttggttgagtctcacc	7	12	13	9	0	2	1	1	1	2	0	4	2	3	2	2	4	1	3	2	4	2	4			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chrX:7868821A>G	ENST00000381042.4	-	7	838	c.668T>C	c.(667-669)cTt>cCt	p.L223P	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L136P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L223P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	223					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGGGGGAAAAAGGGCTTGGTT	0.353																																					p.L223P													.	PNPLA4	24		0			c.T668C												57	52	54					X																	7868821		2203	4299	6502	SO:0001583	missense	8228	exon7			GGAAAAAGGGCTT	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.668T>C	X.37:g.7868821A>G	ENSP00000370430:p.Leu223Pro		300	0	0		430	0.02	8	NM_004650	20	0	0	A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341460	0.41498	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	T;T;T	0.81078	-1.45;-1.45;-1.45	4.38	4.38	0.52667	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.193685	0.33127	N	0.005243	D	0.89866	0.6839	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90635	0.4570	10	0.87932	D	0	-22.634	9.3053	0.37872	1.0:0.0:0.0:0.0	.	223	P41247	PLPL4_HUMAN	P	223;223;136	ENSP00000370430:L223P;ENSP00000415245:L223P;ENSP00000443157:L136P	ENSP00000370430:L223P	L	-	2	0	PNPLA4	7828821	1.000000	0.71417	0.139000	0.22197	0.388000	0.30384	5.486000	0.66856	1.452000	0.47756	0.481000	0.45027	CTT			0.353	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055687.1		NM_004650		G	7868821	A	G	7868821	3	3	49	1	0	0	0	0	1	0	0	0	12184	72	3	4	97	4	PNPLA4	23	7868821	Missense_Mutation	SNP	A	TCGA-2G-AAHA-01A-11D-A42Y-10		7868821	147401739	70	3531											
CYLC1	1538	broad.mit.edu	37	chrX	83129489	83129489	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagactacattcaatgaaaaAggggaaaaagcaagtacagg	21	5	10	5	0	1	2	1	1	0	1	1	3	1	3	0	3	3	2	0	3	9	3			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chrX:83129489A>G	ENST00000329312.4	+	4	1810	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	591					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAATGAAAAAGGGGAAAAAG	0.418																																					p.K591K													.	CYLC1	272		0			c.A1773G												67	59	61					X																	83129489		2202	4299	6501	SO:0001819	synonymous_variant	1538	exon4			TGAAAAAGGGGAA	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1773A>G	X.37:g.83129489A>G			211	0	0		210	0.01	3	NM_021118	0		0	A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																					0.418	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057371.1		NM_021118		G	83129489	A	G	83129489	2	3	49	1	0	0	0	0	0	0	0	1	4143	69	3	4		4	CYLC1	23	83129489	Silent	SNP	A	TCGA-2G-AAHA-01A-11D-A42Y-10	75260668	83129489	72141071	71	3532											
SASH3	54440	mdanderson.org	37	chrX	128926627	128926627	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtgatccagatcattGaaaagccacctgtgggcacg	12	8	12	9	1	1	4	1	2	0	2	2	5	2	4	3	1	1	1	3	1	2	1			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chrX:128926627G>T	ENST00000356892.3	+	6	730	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	206	SH3.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCAGATCATTGAAAAGCCACC	0.567																																					p.E206X													.	.			0			c.G616T												101	99	100					X																	128926627		2203	4300	6503	SO:0001587	stop_gained	54440	exon6			ATCATTGAAAAGC	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.616G>T	X.37:g.128926627G>T	ENSP00000349359:p.Glu206*		29	0	0		36	0.08	3	NM_018990	52	0	0	A6NCH1|A8K7K8|Q5JZ38	Nonsense_Mutation	SNP	ENST00000356892.3	37	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	G	36	5.915435	0.97099	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	.	.	.	5.47	4.6	0.57074	.	0.089217	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-12.9938	13.4102	0.60938	0.079:0.0:0.921:0.0	.	.	.	.	X	224;206	.	ENSP00000349359:E206X	E	+	1	0	SASH3	128754308	1.000000	0.71417	0.969000	0.41365	0.934000	0.57294	4.186000	0.58337	1.092000	0.41356	-0.344000	0.07964	GAA			0.567	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058208.1		NM_018990		T	128926627	G	T	128926627	4	4	49	1	0	0	0	0	0	1	0	0	13872	1291	45	3	638	3	SASH3	23	128926627	Nonsense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10	45797138	128926627	26343933	72	3533											
USP9Y	8287	broad.mit.edu	37	chrY	14952959	14952959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggattatttgttgcctgaaGcagaagaaattactatgatt	14	14	9	4	0	0	4	0	2	0	2	0	5	0	5	1	1	3	2	1	1	6	6			TCGA-2G-AAHA-01A-11D-A42Y-10	TCGA-2G-AAHA-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fc8f661f-51cf-492d-aebf-c9ea75151dae	8cf937d8-88aa-4896-adb5-fd5479580dc3	g.chrY:14952959G>T	ENST00000338981.3	+	37	7057	c.6112G>T	c.(6112-6114)Gca>Tca	p.A2038S	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2038					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						GTTGCCTGAAGCAGAAGAAAT	0.323																																					p.A2038S													.	USP9Y	49		0			c.G6112T												52	52	52					Y																	14952959		590	1930	2520	SO:0001583	missense	8287	exon37			CCTGAAGCAGAAG	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.6112G>T	Y.37:g.14952959G>T	ENSP00000342812:p.Ala2038Ser		149	0	0		180	0.02	4	NM_004654	13	0	0	O14601	Missense_Mutation	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																					0.323	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088703.2		NM_004654		T	14952959	G	T	14952959	3	4	49	1	0	0	0	0	1	0	0	0	17115	971	34	2	6250	2	USP9Y	24	14952959	Missense_Mutation	SNP	G	TCGA-2G-AAHA-01A-11D-A42Y-10		14952959	44420607	73	3534											
SCNN1D	6339	mdanderson.org	37	chr1	1223348	1223348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccggctcgggagcccctaCggccactgcaccgccggcgg	5	3	14	19	6	0	0	0	0	0	0	1	1	0	1	6	5	3	2	6	5	1	1	rs370866963	byFrequency	TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr1:1223348C>T	ENST00000338555.2	+	9	2245	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	SCNN1D_ENST00000379116.5_Silent_p.Y531Y|SCNN1D_ENST00000400928.3_Silent_p.Y367Y|SCNN1D_ENST00000325425.8_Silent_p.Y433Y			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	367					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-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;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GGAGCCCCTACGGCCACTGCA	0.711													C|||	18	0.00359425	0.0121	0.0029	5008	,	,		11514	0		0	False		,,,				2504	0				p.Y531Y													.	.			0			c.C1593T							C		30,3908		0,30,1939	6	8	7		1593	-3	0	1		7	7,7861		0,7,3927	no	coding-synonymous	SCNN1D	NM_001130413.3		0,37,5866	TT,TC,CC		0.089,0.7618,0.3134		531/803	1223348	37,11769	1969	3934	5903	SO:0001819	synonymous_variant	6339	exon12			CCCCTACGGCCAC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1101C>T	1.37:g.1223348C>T			67	0	0		81	0.05	4	NM_001130413	5	0	0	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	C	4.528	0.097917	0.08681	0.007618	8.9E-4	ENSG00000162572	ENST00000379099	.	.	.	2.95	-2.97	0.05530	.	.	.	.	.	T	0.21267	0.0512	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30995	-0.9959	4	.	.	.	.	7.0863	0.25259	0.0:0.159:0.1502:0.6908	.	.	.	.	W	184	.	.	R	+	1	2	SCNN1D	1213211	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.478000	0.00457	-0.563000	0.06078	0.313000	0.20887	CGG			0.711	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000005802.2		NM_002978		T	1223348	C	T	1223348	2	4	50	1	0	0	0	0	0	0	0	1	13952	547	19	1		1	SCNN1D	1	1223348	Silent	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10		1223348	248027273	1	3535											
CSF3R	1441	broad.mit.edu	37	chr1	36932281	36932281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgctcttgggtccccctGgagcacataggtctggacca	8	9	11	13	0	2	0	0	0	2	0	3	2	3	2	3	4	3	2	3	4	2	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr1:36932281G>T	ENST00000373106.1	-	17	2735	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	CSF3R_ENST00000418048.2_Missense_Mutation_p.Q730K|CSF3R_ENST00000373103.1_Missense_Mutation_p.Q757K|CSF3R_ENST00000361632.4_Missense_Mutation_p.Q730K|CSF3R_ENST00000440588.2_Missense_Mutation_p.Q757K|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000338937.5_Silent_p.S698S|CSF3R_ENST00000373104.1_Missense_Mutation_p.Q730K|CSF3R_ENST00000331941.5_Missense_Mutation_p.Q730K|CSF3R_ENST00000487540.2_5'UTR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	730					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)	GGGTCCCCCTGGAGCACATAG	0.617																																					p.Q757K													.	CSF3R	157		0			c.C2269A												66	70	69					1																	36932281		2203	4300	6503	SO:0001583	missense	1441	exon17			CCCCCTGGAGCAC	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.2188C>A	1.37:g.36932281G>T	ENSP00000362198:p.Gln730Lys		111	0	0		69	0.04	3	NM_156039	85	0	0		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021238	0.75275	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000440588	T;T;T;T;T;T;T	0.71934	0.86;0.2;-0.61;0.86;0.2;0.86;-0.61	5.81	5.81	0.92471	.	1.064840	0.07213	N	0.859522	D	0.82921	0.5142	L	0.52364	1.645	0.80722	D	1	P;P;P;D	0.71674	0.787;0.865;0.787;0.998	B;P;B;D	0.81914	0.32;0.519;0.32;0.995	T	0.73471	-0.3972	10	0.49607	T	0.09	-13.4104	16.8018	0.85616	0.0:0.0:1.0:0.0	.	730;757;730;730	Q1ZYL6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	K	730;730;757;730;730;730;757	ENSP00000362198:Q730K;ENSP00000362196:Q730K;ENSP00000362195:Q757K;ENSP00000355406:Q730K;ENSP00000332180:Q730K;ENSP00000401588:Q730K;ENSP00000397568:Q757K	ENSP00000332180:Q730K	Q	-	1	0	CSF3R	36704868	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.438000	0.66550	2.746000	0.94184	0.655000	0.94253	CAG			0.617	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021997.2		NM_156039		T	36932281	G	T	36932281	3	4	50	1	0	0	0	0	1	0	0	0	3939	1357	47	3	435	3	CSF3R	1	36932281	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	35708933	36932281	212318340	2	3536											
FOXJ3	22887	broad.mit.edu	37	chr1	42693609	42693609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggcagcacatcttccttcGgattggtgtctattgcccag	7	13	10	11	1	2	0	0	0	2	0	4	1	3	1	2	3	2	2	2	3	2	6			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr1:42693609G>T	ENST00000372572.1	-	7	784	c.473C>A	c.(472-474)cCg>cAg	p.P158Q	FOXJ3_ENST00000361776.1_Missense_Mutation_p.P158Q|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P158Q|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P158Q|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P158Q	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	158					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCTTCCTTCGGATTGGTGTC	0.373																																					p.P158Q													.	FOXJ3	59		0			c.C473A												96	87	90					1																	42693609		2203	4300	6503	SO:0001583	missense	22887	exon5			TCCTTCGGATTGG	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.473C>A	1.37:g.42693609G>T	ENSP00000361653:p.Pro158Gln		160	0	0		96	0.03	3	NM_001198852	25	0	0	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818978	0.90873	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65;-3.65	5.68	5.68	0.88126	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.059113	0.64402	D	0.000003	D	0.96574	0.8882	M	0.63428	1.95	0.80722	D	1	P;D	0.89917	0.855;1.0	P;D	0.91635	0.884;0.999	D	0.95813	0.8843	10	0.40728	T	0.16	.	17.2843	0.87137	0.0:0.0:1.0:0.0	.	158;158	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	Q	158	ENSP00000361654:P158Q;ENSP00000361653:P158Q;ENSP00000354620:P158Q;ENSP00000354449:P158Q;ENSP00000439044:P158Q;ENSP00000393408:P158Q	ENSP00000354620:P158Q	P	-	2	0	FOXJ3	42466196	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.770000	0.85390	2.666000	0.90696	0.655000	0.94253	CCG			0.373	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000018310.1		NM_014947		T	42693609	G	T	42693609	3	4	50	1	0	0	0	0	1	0	0	0	6026	1116	39	1	1431	1	FOXJ3	1	42693609	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	5761328	42693609	206557012	3	3537											
C1orf177	163747	hgsc.bcm.edu	37	chr1	55277575	55277575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcctcatgtgcaggatgAgcaacaagccacacccccgg	11	4	12	14	1	1	1	1	1	0	0	1	2	1	2	4	3	4	2	4	3	2	0			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr1:55277575A>G	ENST00000371273.3	+	5	604	c.589A>G	c.(589-591)Agc>Ggc	p.S197G	C1orf177_ENST00000358193.3_Missense_Mutation_p.S197G	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	197										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GTGCAGGATGAGCAACAAGCC	0.622																																					p.S197G													.	.			0			c.A589G												69	66	67					1																	55277575		2203	4300	6503	SO:0001583	missense	163747	exon5			AGGATGAGCAACA	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.589A>G	1.37:g.55277575A>G	ENSP00000360320:p.Ser197Gly		120	0	0		123	0.04	5	NM_001110533	0		0	B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590792	0.28357	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.24151	1.87;1.87	4.66	-0.404	0.12396	.	0.929485	0.09054	N	0.855445	T	0.17365	0.0417	L	0.43152	1.355	0.24000	N	0.996213	B;B	0.17038	0.02;0.02	B;B	0.15484	0.013;0.013	T	0.33085	-0.9882	10	0.25106	T	0.35	1.0062	3.0126	0.06049	0.3337:0.0:0.2229:0.4434	.	197;197	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	G	197	ENSP00000350924:S197G;ENSP00000360320:S197G	ENSP00000350924:S197G	S	+	1	0	C1orf177	55050163	0.938000	0.31826	0.994000	0.49952	0.844000	0.47949	0.172000	0.16704	0.019000	0.15079	0.459000	0.35465	AGC			0.622	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000027674.1		NM_152607		G	55277575	A	G	55277575	3	3	50	1	0	0	0	0	1	0	0	0	2019	304	11	4	607	4	C1orf177	1	55277575	Missense_Mutation	SNP	A	TCGA-2G-AAHC-01A-11D-A42Y-10	12583966	55277575	193973046	4	3538											
SLC30A7	148867	broad.mit.edu;mdanderson.org	37	chr1	101387372	101387372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatcctatctgttcaattCttatagccattcttatagtt	10	18	4	9	0	4	1	1	0	3	1	5	1	5	1	2	0	1	2	2	0	6	9			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr1:101387372C>G	ENST00000370112.4	+	8	1004	c.817C>G	c.(817-819)Ctt>Gtt	p.L273V	SLC30A7_ENST00000357650.4_Missense_Mutation_p.L273V	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	273					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CTGTTCAATTCTTATAGCCAT	0.323																																					p.L273V	NSCLC(91;473 1491 3102 16827 21633)												.	SLC30A7	33		0			c.C817G												151	143	146					1																	101387372		2202	4299	6501	SO:0001583	missense	148867	exon8			TCAATTCTTATAG	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"Solute carriers"	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.817C>G	1.37:g.101387372C>G	ENSP00000359130:p.Leu273Val		71	0	0		54	0.06	3	NM_001144884	11	0.18	2	B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	CCDS776.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.418995	0.62622	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.66460	-0.21;-0.21	5.62	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	L	0.43646	1.37	0.80722	D	1	D	0.53462	0.96	P	0.46510	0.519	T	0.50825	-0.8782	10	0.08837	T	0.75	-7.919	14.3841	0.66931	0.0:0.9287:0.0:0.0712	.	273	Q8NEW0	ZNT7_HUMAN	V	273	ENSP00000359130:L273V;ENSP00000350278:L273V	ENSP00000350278:L273V	L	+	1	0	SLC30A7	101159960	1.000000	0.71417	0.979000	0.43373	0.931000	0.56810	4.545000	0.60698	1.357000	0.45904	0.655000	0.94253	CTT			0.323	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032711.1		NM_133496		G	101387372	C	G	101387372	3	3	50	1	0	0	0	0	1	0	0	0	14583	913	32	5	847	5	SLC30A7	1	101387372	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	46109797	101387372	147863249	5	3539											
DENND2C	163259	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	115130380	115130380	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggtcctggatgaatccTgcaaacatctgagtttccat	9	13	8	11	1	2	2	0	2	2	0	6	3	5	3	3	2	2	2	3	2	2	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr1:115130380T>C	ENST00000393274.1	-	19	3250	c.2625A>G	c.(2623-2625)gcA>gcG	p.A875A	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Silent_p.A763A|DENND2C_ENST00000393276.3_Silent_p.A818A	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	875	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GGATGAATCCTGCAAACATCT	0.448																																					p.A875A													.	.			0			c.A2625G												76	68	71					1																	115130380		2203	4300	6503	SO:0001819	synonymous_variant	163259	exon19			GAATCCTGCAAAC		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2625A>G	1.37:g.115130380T>C			113	0	0		108	0.14	15	NM_001256404	7	0.43	3	B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	CCDS58018.1																																																																																					0.448	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000314822.1		NM_198459		C	115130380	T	C	115130380	2	2	50	1	0	0	0	0	0	0	0	1	4435	1567	55	4		4	DENND2C	1	115130380	Silent	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10	13743008	115130380	134120241	6	3540											
LONRF2	164832	mdanderson.org	37	chr2	100916315	100916315	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcctcttcaaagtgtagAcccagtataaaatacaaaac	17	11	4	9	0	2	1	1	0	1	1	3	1	3	1	2	0	2	2	2	0	9	6	rs11123823	byFrequency	TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr2:100916315A>T	ENST00000393437.3	-	5	1770	c.1131T>A	c.(1129-1131)ggT>ggA	p.G377G	LONRF2_ENST00000409647.1_Silent_p.G134G	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	377							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.G377G(1)		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						CAAAGTGTAGACCCAGTATAA	0.408																																					p.G377G													LONRF2,NS,carcinoma,0,1	LONRF2	0	1	1	Substitution - coding silent(1)	stomach(1)	c.T1131A												64	63	63					2																	100916315		2203	4300	6503	SO:0001819	synonymous_variant	164832	exon5			GTGTAGACCCAGT	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.1131T>A	2.37:g.100916315A>T			78	0	0		75	0.04	3	NM_198461	2	0	0	B9A006|Q6ZSR4	Silent	SNP	ENST00000393437.3	37	CCDS2046.2																																																																																					0.408	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253161.2		NM_198461		T	100916315	A	T	100916315	2	4	50	1	0	0	0	0	0	0	0	1	8911	262	10	5		5	LONRF2	2	100916315	Silent	SNP	A	TCGA-2G-AAHC-01A-11D-A42Y-10		100916315	142283058	7	3541											
TMEM87B	84910	mdanderson.org	37	chr2	112843654	112843654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctcgccttctcgtgatcaTtgtgagcctgggctatggca	5	12	13	11	2	2	2	1	2	1	0	4	2	2	2	2	3	1	3	2	3	1	3			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr2:112843654T>C	ENST00000283206.4	+	9	1280	c.911T>C	c.(910-912)aTt>aCt	p.I304T	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	304						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CTCGTGATCATTGTGAGCCTG	0.448																																					p.I304T													.	.			0			c.T911C												156	143	147					2																	112843654		2203	4300	6503	SO:0001583	missense	84910	exon9			TGATCATTGTGAG	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.911T>C	2.37:g.112843654T>C	ENSP00000283206:p.Ile304Thr		75	0	0		50	0.06	3	NM_032824	18	0	0	A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725798	0.69074	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.84	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.79258	2.445	0.58432	D	0.999998	D	0.59357	0.985	D	0.65874	0.939	T	0.77887	-0.2420	9	0.87932	D	0	-9.6723	10.2105	0.43138	0.0:0.0784:0.0:0.9216	.	304	Q96K49	TM87B_HUMAN	T	304	.	ENSP00000283206:I304T	I	+	2	0	TMEM87B	112560125	1.000000	0.71417	0.773000	0.31616	0.715000	0.41141	7.946000	0.87746	1.025000	0.39708	0.533000	0.62120	ATT			0.448	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330500.1		NM_032824		C	112843654	T	C	112843654	3	2	50	1	0	0	0	0	1	0	0	0	16234	1493	52	4	945	4	TMEM87B	2	112843654	Missense_Mutation	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10	11927339	112843654	130355719	8	3542											
PAX8	7849	ucsc.edu;mdanderson.org	37	chr2	113992973	113992973	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctccctgtcgtacctGagaggagggcctggcccgtg	5	7	16	13	2	0	1	0	1	0	1	2	4	1	3	5	4	1	1	5	4	1	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr2:113992973G>T	ENST00000429538.3	-	9	1279	c.1085C>A	c.(1084-1086)tCa>tAa	p.S362*	PAX8_ENST00000348715.5_Missense_Mutation_p.Q336K|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.Q336K|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000431844.2_RNA|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	362					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGTCGTACCTGAGAGGAGGGC	0.667			T	PPARG	follicular thyroid		Thyroid dysgenesis																														p.S362X	Ovarian(188;7 2067 9084 29802 29892)			Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	.	PAX8	42		0			c.C1085A												15	17	17					2																	113992973		1894	4105	5999	SO:0001587	stop_gained	7849	exon9			GTACCTGAGAGGA	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.1085C>A	2.37:g.113992973G>T	ENSP00000395498:p.Ser362*		45	0	0		52	0.1	5	NM_003466	15	0	0	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	CCDS46398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.544587|8.544587	0.98857|0.98857	.|.	.|.	ENSG00000125618|ENSG00000125618	ENST00000348715;ENST00000263334|ENST00000429538	D;D|.	0.97114|.	-4.25;-4.25|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.415891	.|0.24727	.|N	.|0.036090	T|.	0.73179|.	0.3554|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.31817|.	0.341|.	B|.	0.33620|.	0.167|.	T|.	0.69924|.	-0.5013|.	8|.	0.37606|0.38643	T|T	0.19|0.18	.|.	17.5992|17.5992	0.88021|0.88021	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	336|.	Q06710-3|.	.|.	K|X	336|362	ENSP00000314750:Q336K;ENSP00000263334:Q336K|.	ENSP00000263334:Q336K|ENSP00000395498:S362X	Q|S	-|-	1|2	0|0	PAX8|PAX8	113709444|113709444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.019000|8.019000	0.88732|0.88732	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	CAG|TCA			0.667	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250353.5				T	113992973	G	T	113992973	4	4	50	1	0	0	0	0	0	1	0	0	11502	1303	45	3	283	3	PAX8	2	113992973	Nonsense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	1149319	113992973	129206400	9	3543											
THAP4	51078	mdanderson.org	37	chr2	242572743	242572743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctgggccaggcccttgtCgggtcccaggctgctcccac	3	8	13	17	1	1	0	0	0	1	0	4	0	3	0	4	4	1	3	4	4	0	1	rs554537698	byFrequency	TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr2:242572743C>T	ENST00000407315.1	-	2	1260	c.829G>A	c.(829-831)Gac>Aac	p.D277N		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	277							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		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;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGGCCCTTGTCGGGTCCCAGG	0.637													C|||	2	0.000399361	0	0.0014	5008	,	,		17342	0		0	False		,,,				2504	0.001				p.D277N													.	.			0			c.G829A												74	80	78					2																	242572743		2203	4296	6499	SO:0001583	missense	51078	exon2			CCTTGTCGGGTCC	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.829G>A	2.37:g.242572743C>T	ENSP00000385006:p.Asp277Asn		48	0	0		34	0.09	3	NM_015963	231	0	0	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427403	0.25726	.	.	ENSG00000176946	ENST00000407315	D	0.96396	-4.0	4.98	4.1	0.47936	.	0.318257	0.21820	N	0.068630	D	0.91489	0.7313	L	0.27053	0.805	0.49687	D	0.999814	P	0.40638	0.725	B	0.33042	0.157	D	0.91264	0.5039	10	0.87932	D	0	-22.8018	13.0532	0.58966	0.1615:0.8385:0.0:0.0	.	277	Q8WY91	THAP4_HUMAN	N	277	ENSP00000385006:D277N	ENSP00000385006:D277N	D	-	1	0	THAP4	242221416	0.557000	0.26546	0.204000	0.23530	0.069000	0.16628	1.155000	0.31700	1.210000	0.43336	0.650000	0.86243	GAC			0.637	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257267.3		NM_015963		T	242572743	C	T	242572743	3	4	50	1	0	0	0	0	1	0	0	0	15869	884	31	1	932	1	THAP4	2	242572743	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	128579770	242572743	626630	10	3544											
C3orf19	51244	mdanderson.org	37	chr3	14693367	14693367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtaggaaaaagcctttGgacgtcacggcctcctcggt	9	8	12	12	4	1	0	1	0	0	0	3	3	2	2	4	4	1	1	4	4	3	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr3:14693367G>T	ENST00000383794.3	+	1	97	c.24G>T	c.(22-24)ttG>ttT	p.L8F	CCDC174_ENST00000303688.7_Missense_Mutation_p.L8F|AC090952.5_ENST00000424242.1_RNA	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	8						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAAGCCTTTGGACGTCACGG	0.582																																					p.L8F													.	.			0			c.G24T												65	69	68					3																	14693367		1955	4144	6099	SO:0001583	missense	51244	exon1			GCCTTTGGACGTC	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.24G>T	3.37:g.14693367G>T	ENSP00000373304:p.Leu8Phe		50	0	0		39	0.08	3	NM_016474	22	0	0	Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294055	0.23564	.	.	ENSG00000154781	ENST00000383794;ENST00000303688	T;T	0.47177	0.85;0.85	4.61	3.72	0.42706	.	0.250574	0.33457	N	0.004893	T	0.34337	0.0894	L	0.33485	1.01	0.39860	D	0.973364	B	0.13145	0.007	B	0.11329	0.006	T	0.30327	-0.9982	10	0.54805	T	0.06	-24.2657	8.691	0.34267	0.1786:0.0:0.8214:0.0	.	8	Q6PII3	CC019_HUMAN	F	8	ENSP00000373304:L8F;ENSP00000302344:L8F	ENSP00000302344:L8F	L	+	3	2	C3orf19	14668371	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.439000	0.44846	2.388000	0.81334	0.467000	0.42956	TTG			0.582	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252077.2		NM_016474		T	14693367	G	T	14693367	3	4	50	1	0	0	0	0	1	0	0	0	2214	1339	47	3	26	3	C3orf19	3	14693367	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		14693367	183329063	11	3545											
HACL1	26061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	15633164	15633164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggatgagacctgggccaGaaacaacaaggcagactcct	14	5	11	11	0	0	3	0	1	0	3	1	5	1	4	3	3	2	1	3	3	3	0			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr3:15633164G>A	ENST00000321169.5	-	4	618	c.251C>T	c.(250-252)tCt>tTt	p.S84F	HACL1_ENST00000457447.2_Missense_Mutation_p.S84F|HACL1_ENST00000456194.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.S84F|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	84					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						ACCTGGGCCAGAAACAACAAG	0.383																																					p.S84F													.	.			0			c.C251T												67	61	63					3																	15633164		2203	4300	6503	SO:0001583	missense	26061	exon4			GGGCCAGAAACAA	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.251C>T	3.37:g.15633164G>A	ENSP00000323811:p.Ser84Phe		199	0	0		128	0.14	18	NM_012260	52	0.5	26	B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500844	0.85176	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000457447	T;T;T	0.53857	1.24;1.15;0.6	5.65	5.65	0.86999	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.098868	0.64402	D	0.000001	D	0.83681	0.5307	H	0.98027	4.13	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.89496	0.3760	10	0.87932	D	0	.	18.5568	0.91088	0.0:0.0:1.0:0.0	.	84;84;84	B4DXI5;E9PEN4;Q9UJ83	.;.;HACL1_HUMAN	F	84	ENSP00000323811:S84F;ENSP00000403656:S84F;ENSP00000404883:S84F	ENSP00000323811:S84F	S	-	2	0	HACL1	15608168	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.215000	0.72206	2.698000	0.92095	0.585000	0.79938	TCT			0.383	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252104.3		NM_012260		A	15633164	G	A	15633164	3	1	50	1	0	0	0	0	1	0	0	0	6956	942	33	3	1541	3	HACL1	3	15633164	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	939797	15633164	182389266	12	3546											
C3orf71	646450	mdanderson.org	37	chr3	48955993	48955993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttatctgctccactgacGccaggatgtcttctccgtgc	5	13	10	13	2	3	1	0	1	3	0	5	2	4	2	3	2	2	2	3	2	1	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr3:48955993G>T	ENST00000408959.2	-	1	825	c.590C>A	c.(589-591)gCg>gAg	p.A197E	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	197						integral component of membrane (GO:0016021)		p.A197V(1)									CTCCACTGACGCCAGGATGTC	0.587																																					p.A197E													C3orf71,NS,carcinoma,0,1	C3orf71	0	1	1	Substitution - Missense(1)	breast(1)	c.C590A												70	72	71					3																	48955993		1568	3582	5150	SO:0001583	missense	646450	exon1			ACTGACGCCAGGA	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.590C>A	3.37:g.48955993G>T	ENSP00000386193:p.Ala197Glu		64	0	0		47	0.06	3	NM_001123040	15	0	0		Missense_Mutation	SNP	ENST00000408959.2	37	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	G	9.847	1.192646	0.21954	.	.	ENSG00000221883	ENST00000408959	.	.	.	3.13	2.24	0.28232	.	.	.	.	.	T	0.32406	0.0828	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.60236	0.871	T	0.12863	-1.0531	8	0.87932	D	0	.	8.2633	0.31799	0.0:0.245:0.755:0.0	.	197	Q8N7S6	CC071_HUMAN	E	197	.	ENSP00000386193:A197E	A	-	2	0	C3orf71	48930997	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.281000	0.18810	0.879000	0.35944	-0.176000	0.13171	GCG			0.587	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345247.1		NM_001123040		T	48955993	G	T	48955993	3	4	50	1	0	0	0	0	1	0	0	0	2245	1087	38	1	286	1	C3orf71	3	48955993	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	33322829	48955993	149066437	13	3547											
NISCH	11188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52522318	52522318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcacccacaactgtcgcaAccgcaacagcttcaagctca	12	6	7	16	2	2	0	2	0	0	0	3	0	2	0	2	1	5	5	2	1	4	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr3:52522318A>G	ENST00000479054.1	+	17	2882	c.2810A>G	c.(2809-2811)aAc>aGc	p.N937S	NISCH_ENST00000345716.4_Missense_Mutation_p.N937S			Q9Y2I1	NISCH_HUMAN	nischarin	937					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)	AACTGTCGCAACCGCAACAGC	0.647																																					p.N937S													.	.			0			c.A2810G												110	101	104					3																	52522318		2203	4300	6503	SO:0001583	missense	11188	exon16			GTCGCAACCGCAA	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.2810A>G	3.37:g.52522318A>G	ENSP00000418232:p.Asn937Ser		49	0	0		34	0.21	7	NM_007184	185	0.43	80	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372194	0.24857	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.05925	3.37;3.37	5.21	2.8	0.32819	.	0.561643	0.19300	N	0.117668	T	0.03095	0.0091	N	0.14661	0.345	0.25095	N	0.990829	B	0.31705	0.336	B	0.23574	0.047	T	0.41556	-0.9502	10	0.30854	T	0.27	-30.0057	6.1865	0.20500	0.6929:0.1574:0.1497:0.0	.	937	Q9Y2I1	NISCH_HUMAN	S	937;937;281	ENSP00000418232:N937S;ENSP00000339958:N937S	ENSP00000339958:N937S	N	+	2	0	NISCH	52497358	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.596000	0.46205	1.971000	0.57363	0.379000	0.24179	AAC			0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351357.1		NM_007184		G	52522318	A	G	52522318	3	3	50	1	0	0	0	0	1	0	0	0	10449	43	2	4	2872	4	NISCH	3	52522318	Missense_Mutation	SNP	A	TCGA-2G-AAHC-01A-11D-A42Y-10	3566325	52522318	145500112	14	3548											
DNAJC13	23317	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	132199260	132199260	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggaataagaatccttgtGgacttgcttacccttgcaca	12	12	8	9	0	0	1	0	0	0	1	1	3	1	3	2	2	3	2	2	2	5	5			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr3:132199260G>T	ENST00000260818.6	+	26	3068	c.2820G>T	c.(2818-2820)gtG>gtT	p.V940V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	940					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						GAATCCTTGTGGACTTGCTTA	0.348																																					p.V940V													.	DNAJC13	253		0			c.G2820T												113	99	104					3																	132199260		2203	4300	6503	SO:0001819	synonymous_variant	23317	exon26			CCTTGTGGACTTG	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.2820G>T	3.37:g.132199260G>T			83	0	0		45	0.11	5	NM_015268	47	0	0	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	CCDS33857.1																																																																																					0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356807.2		NM_015268		T	132199260	G	T	132199260	2	4	50	1	0	0	0	0	0	0	0	1	4637	1335	47	3		3	DNAJC13	3	132199260	Silent	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	79676942	132199260	65823170	15	3549											
GUF1	60558	mdanderson.org	37	chr4	44691417	44691417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtagccttgctctgggtgCtggctggaggtaagattcat	7	13	14	7	0	2	1	1	0	1	1	2	2	2	2	1	4	3	5	1	4	3	5			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr4:44691417C>T	ENST00000281543.5	+	10	1387	c.1193C>T	c.(1192-1194)gCt>gTt	p.A398V	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GCTCTGGGTGCTGGCTGGAGG	0.363																																					p.A398V													.	.			0			c.C1193T												128	132	130					4																	44691417		2203	4300	6503	SO:0001583	missense	60558	exon10			TGGGTGCTGGCTG		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1193C>T	4.37:g.44691417C>T	ENSP00000281543:p.Ala398Val		81	0	0		47	0.06	3	NM_021927	41	0	0		Missense_Mutation	SNP	ENST00000281543.5	37	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985515	0.93044	.	.	ENSG00000151806	ENST00000281543	T	0.69561	-0.41	5.63	5.63	0.86233	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	L	0.34521	1.04	0.80722	D	1	P	0.50156	0.932	P	0.45310	0.476	T	0.68659	-0.5350	10	0.87932	D	0	-20.0827	18.6549	0.91448	0.0:1.0:0.0:0.0	.	398	Q8N442	GUF1_HUMAN	V	398	ENSP00000281543:A398V	ENSP00000281543:A398V	A	+	2	0	GUF1	44386174	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.476000	0.81055	2.632000	0.89209	0.650000	0.86243	GCT			0.363	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250469.3		NM_021927		T	44691417	C	T	44691417	3	4	50	1	0	0	0	0	1	0	0	0	6914	797	28	2	1231	2	GUF1	4	44691417	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10		44691417	146462859	16	3550											
ALB	213	mdanderson.org	37	chr4	74272367	74272367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgattgcctttgctcaGtatcttcagcagtgtccatt	6	17	9	9	0	3	1	2	1	1	0	4	1	4	1	2	0	3	4	2	0	1	6			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr4:74272367G>A	ENST00000295897.4	+	3	248	c.159G>A	c.(157-159)caG>caA	p.Q53Q	ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000509063.1_Silent_p.Q53Q|ALB_ENST00000401494.3_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)			CCTTTGCTCAGTATCTTCAGC	0.338																																					p.Q53Q													.	.			0			c.G159A												146	137	140					4																	74272367		2203	4300	6503	SO:0001819	synonymous_variant	213	exon3			TGCTCAGTATCTT	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.159G>A	4.37:g.74272367G>A			56	0	0		52	0.06	3	NM_000477	0		0	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000295897.4	37	CCDS3555.1																																																																																					0.338	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252173.3		NM_000477		A	74272367	G	A	74272367	2	1	50	1	0	0	0	0	0	0	0	1	486	1020	36	3		3	ALB	4	74272367	Silent	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	29580950	74272367	116881909	17	3551											
DSPP	1834	broad.mit.edu	37	chr4	88536863	88536863	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgacagcagtgatagcagtAatagtagtgacagcagcaat	15	8	12	6	0	0	3	0	3	0	0	0	3	0	3	0	0	4	6	0	0	5	4	rs202097694		TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr4:88536863A>G	ENST00000282478.7	+	4	3082	c.3049A>G	c.(3049-3051)Aat>Gat	p.N1017D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N1017D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1017	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgatagcagtaatagtagtga	0.512																																					p.N1017D													.	DSPP	174		0			c.A3049G												65	75	71					4																	88536863		1633	2903	4536	SO:0001583	missense	1834	exon5			AGCAGTAATAGTA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3049A>G	4.37:g.88536863A>G	ENSP00000282478:p.Asn1017Asp		71	0.014084507	1		56	0.07	4	NM_014208	0		0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	a	2.031	-0.422392	0.04734	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88046	-2.33;-2.33	0.486	-0.972	0.10300	.	.	.	.	.	T	0.67524	0.2902	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50355	-0.8838	8	0.13470	T	0.59	.	.	.	.	.	1017	Q9NZW4	DSPP_HUMAN	D	1017	ENSP00000382213:N1017D;ENSP00000282478:N1017D	ENSP00000282478:N1017D	N	+	1	0	DSPP	88755887	0.000000	0.05858	0.065000	0.19835	0.046000	0.14306	-0.511000	0.06321	-1.082000	0.03101	-0.891000	0.02926	AAT			0.512	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		G	88536863	A	G	88536863	3	3	50	1	0	0	0	0	1	0	0	0	4787	362	13	4	3063	4	DSPP	4	88536863	Missense_Mutation	SNP	A	TCGA-2G-AAHC-01A-11D-A42Y-10	14264496	88536863	102617413	18	3552											
SLC22A4	6583	mdanderson.org	37	chr5	131630459	131630459	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccccggagcaccgctgTcgagtgccggacgccgcgaa	7	3	16	15	7	0	0	0	0	0	0	1	5	0	3	5	3	2	2	5	3	1	0			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr5:131630459T>C	ENST00000200652.3	+	1	324	c.150T>C	c.(148-150)tgT>tgC	p.C50C	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	50					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AGCACCGCTGTCGAGTGCCGG	0.672																																					p.C50C													.	.			0			c.T150C												38	44	42					5																	131630459		2202	4300	6502	SO:0001819	synonymous_variant	6583	exon1			CCGCTGTCGAGTG	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.150T>C	5.37:g.131630459T>C			55	0	0		54	0.06	3	NM_003059	2	0	0	O14546	Silent	SNP	ENST00000200652.3	37	CCDS4153.1																																																																																					0.672	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132661.1		NM_003059		C	131630459	T	C	131630459	2	2	50	1	0	0	0	0	0	0	0	1	14479	1673	58	4		4	SLC22A4	5	131630459	Silent	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10		131630459	49284801	19	3553											
FOXF2	2295	broad.mit.edu	37	chr6	1391085	1391086	+	In_Frame_Ins	INS	-	-	GGC																															ggggcgtcggtgcggccgggINSggcggcggcggcggcgacta																								rs58230522|rs147426137|rs147183226|rs111257067|rs397731476	byFrequency	TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr6:1391085_1391086insGGC	ENST00000259806.1	+	1	1017_1018	c.903_904insGGC	c.(904-906)ggc>GGCggc	p.302_302G>GG		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	302	Poly-Gly.				embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		gtgcggccgggggcggcggcgg	0.748														1967	0.392772	0.3812	0.3429	5008	,	,		10454	0.497		0.3072	False		,,,				2504	0.4243				p.G301delinsGG													.	FOXF2	28		0			c.903_904insGGC									240,298		113,14,142						-6.4	0.1		dbSNP_126	1	607,1133		267,73,530	no	coding	FOXF2	NM_001452.1		380,87,672	A1A1,A1R,RR		34.8851,44.6097,37.1817				847,1431				SO:0001652	inframe_insertion	2295	exon1			GGCCGGGGGCGGC	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.916_918dupGGC	6.37:g.1391092_1391094dupGGC	ENSP00000259806:p.Gly306dup		6	0	0		7	0.43	3	NM_001452	0		0	Q5TGJ1|Q9UQ85	In_Frame_Ins	INS	ENST00000259806.1	37	CCDS4472.1																																																																																					0.748	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043558.1				GGC	1391086	-	GGC	1391085	7	5	50	1	0	1	1	0	0	0	0	0	6019	1219	43	0	905	0	FOXF2	6	1391085	In_Frame_Ins	INS	-	TCGA-2G-AAHC-01A-11D-A42Y-10		1391085	169723982	20	3554											
FOXC1	2296	mdanderson.org	37	chr6	1610801	1610801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcggctacaccgccatgCcggcccccatgagcgtgtac	6	5	14	16	4	0	1	0	1	0	0	0	1	0	1	5	4	4	2	5	4	2	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr6:1610801C>T	ENST00000380874.2	+	1	121	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	41					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CACCGCCATGCCGGCCCCCAT	0.756																																					p.P41S	Pancreas(133;719 1821 3197 26645 35015)												.	.			0			c.C121T												5	6	5					6																	1610801		2067	4053	6120	SO:0001583	missense	2296	exon1			GCCATGCCGGCCC	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.121C>T	6.37:g.1610801C>T	ENSP00000370256:p.Pro41Ser		65	0	0		45	0.07	3	NM_001453	0		0	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	c	14.83	2.652137	0.47362	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.92699	-3.09	3.33	3.33	0.38152	.	0.078507	0.51477	U	0.000087	D	0.83147	0.5191	M	0.62723	1.935	0.54753	D	0.999986	B	0.24368	0.102	B	0.20577	0.03	T	0.80473	-0.1367	10	0.20519	T	0.43	.	10.9545	0.47349	0.0:0.809:0.191:0.0	.	41	Q12948	FOXC1_HUMAN	S	41	ENSP00000370256:P41S	ENSP00000370256:P41S	P	+	1	0	FOXC1	1555800	0.962000	0.33011	1.000000	0.80357	0.992000	0.81027	0.222000	0.17699	1.842000	0.53543	0.457000	0.33378	CCG			0.756	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043450.1				T	1610801	C	T	1610801	3	4	50	1	0	0	0	0	1	0	0	0	6007	739	26	2	123	2	FOXC1	6	1610801	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	219716	1610801	169504266	21	3555											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100492	27100492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccgccttcttggagcccTttttcggggcgggagcagac	5	10	13	13	3	2	1	1	0	1	1	3	3	2	3	3	4	2	1	3	4	0	4			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr6:27100492T>C	ENST00000607124.1	-	1	37	c.38A>G	c.(37-39)aAg>aGg	p.K13R	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K13R|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K13R			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	13					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)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTTGGAGCCCTTTTTCGGGGC	0.537																																					p.K13R													HIST1H2BJ,NS,carcinoma,+1,1	HIST1H2BJ	21	1	0			c.A38G												82	84	83					6																	27100492		2203	4300	6503	SO:0001583	missense	8970	exon1			GAGCCCTTTTTCG	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.38A>G	6.37:g.27100492T>C	ENSP00000476136:p.Lys13Arg		112	0	0		110	0.04	4	NM_021058	54	0	0	B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282737	0.59867	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.25250	1.81;1.81	4.27	4.27	0.50696	Histone-fold (2);	.	.	.	.	T	0.18173	0.0436	M	0.82716	2.605	0.44447	D	0.997372	B	0.33694	0.421	B	0.24974	0.057	T	0.10474	-1.0628	9	0.59425	D	0.04	.	11.9985	0.53216	0.0:0.0:0.0:1.0	.	13	P06899	H2B1J_HUMAN	R	13	ENSP00000445633:K13R;ENSP00000342886:K13R	ENSP00000342886:K13R	K	-	2	0	HIST1H2BJ	27208471	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.212000	0.77941	1.883000	0.54544	0.533000	0.62120	AAG			0.537	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040138.2		NM_021058		C	27100492	T	C	27100492	3	2	50	1	0	0	0	0	1	0	0	0	7164	1609	56	4	346	4	HIST1H2BJ	6	27100492	Missense_Mutation	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10	25489691	27100492	144014575	22	3556											
ITPR3	3710	mdanderson.org	37	chr6	33655070	33655070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaggtgagcccacgtgAagtgggccataacatctata	11	8	12	10	2	1	2	0	2	1	0	2	3	1	3	2	3	2	0	2	3	4	3			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr6:33655070A>G	ENST00000374316.5	+	46	7203	c.6143A>G	c.(6142-6144)gAa>gGa	p.E2048G	ITPR3_ENST00000605930.1_Missense_Mutation_p.E2048G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2048					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AGCCCACGTGAAGTGGGCCAT	0.607																																					p.E2048G													.	.			0			c.A6143G												65	55	58					6																	33655070		2203	4300	6503	SO:0001583	missense	3710	exon45			CACGTGAAGTGGG	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6143A>G	6.37:g.33655070A>G	ENSP00000363435:p.Glu2048Gly		56	0	0		39	0.08	3	NM_002224	48	0	0	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.183059	0.78677	.	.	ENSG00000096433	ENST00000374316	D	0.93019	-3.15	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.95878	0.8658	M	0.79805	2.47	0.80722	D	1	P;D	0.76494	0.695;0.999	B;D	0.75484	0.206;0.986	D	0.96322	0.9237	10	0.62326	D	0.03	-14.2905	14.4245	0.67204	1.0:0.0:0.0:0.0	.	2048;1718	Q14573;Q59ES2	ITPR3_HUMAN;.	G	2048	ENSP00000363435:E2048G	ENSP00000363435:E2048G	E	+	2	0	ITPR3	33763048	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.204000	0.95041	1.868000	0.54150	0.459000	0.35465	GAA			0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040204.2		NM_002224		G	33655070	A	G	33655070	3	3	50	1	0	0	0	0	1	0	0	0	7937	246	9	4	6321	4	ITPR3	6	33655070	Missense_Mutation	SNP	A	TCGA-2G-AAHC-01A-11D-A42Y-10	6554578	33655070	137459997	23	3557											
FNDC1	84624	mdanderson.org	37	chr6	159654735	159654735	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagctccagagggatgcTccccacggccctccagaacc	8	4	12	17	2	0	2	0	0	0	2	3	4	3	3	6	3	3	2	6	3	1	0			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr6:159654735T>C	ENST00000297267.9	+	11	3391	c.3191T>C	c.(3190-3192)cTc>cCc	p.L1064P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L1001P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1064					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAGGGATGCTCCCCACGGCC	0.721																																					p.L1064P													.	.			0			c.T3191C												10	13	12					6																	159654735		1849	3840	5689	SO:0001583	missense	84624	exon11			GGATGCTCCCCAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3191T>C	6.37:g.159654735T>C	ENSP00000297267:p.Leu1064Pro		30	0	0		26	0.08	2	NM_032532	5	0	0	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702094	0.30232	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08807	3.05;3.84	4.22	-1.7	0.08159	.	1.355720	0.05041	N	0.476297	T	0.01454	0.0047	N	0.24115	0.695	0.23669	N	0.997156	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.003	T	0.47686	-0.9098	10	0.54805	T	0.06	-1.8128	0.4077	0.00436	0.1811:0.218:0.1866:0.4144	.	1001;1064	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	P	1064;1001	ENSP00000297267:L1064P;ENSP00000342460:L1001P	ENSP00000297267:L1064P	L	+	2	0	FNDC1	159574725	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.103000	0.15292	-0.193000	0.10415	0.459000	0.35465	CTC			0.721	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042897.3		NM_032532		C	159654735	T	C	159654735	3	2	50	1	0	0	0	0	1	0	0	0	5981	1551	54	4	3233	4	FNDC1	6	159654735	Missense_Mutation	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10	125999665	159654735	11460332	24	3558											
SDK1	221935	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr7	4056919	4056919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtatgagatacaggtggCggcgtacaacggggccggtc	10	6	16	9	4	0	1	0	1	0	1	1	2	0	1	1	6	3	2	1	6	4	3			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr7:4056919C>T	ENST00000404826.2	+	17	2676	c.2537C>T	c.(2536-2538)gCg>gTg	p.A846V	SDK1_ENST00000389531.3_Missense_Mutation_p.A846V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	846	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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)		ATACAGGTGGCGGCGTACAAC	0.592																																					p.A846V													SDK1,lower_third,carcinoma,0,1	SDK1	0	1	0			c.C2537T												80	69	73					7																	4056919		2203	4300	6503	SO:0001583	missense	221935	exon17			AGGTGGCGGCGTA	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.2537C>T	7.37:g.4056919C>T	ENSP00000385899:p.Ala846Val		171	0	0		115	0.04	5	NM_152744	6	0	0	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464478	0.96257	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57752	0.38;0.38	6.07	6.07	0.98685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.74382	0.3709	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.74526	-0.3636	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	846;846	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	V	846	ENSP00000385899:A846V;ENSP00000374182:A846V	ENSP00000374182:A846V	A	+	2	0	SDK1	4023445	1.000000	0.71417	0.972000	0.41901	0.779000	0.44077	7.726000	0.84824	2.884000	0.98904	0.655000	0.94253	GCG			0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323702.1		NM_152744		T	4056919	C	T	4056919	3	4	50	1	0	0	0	0	1	0	0	0	13991	768	27	1	2603	1	SDK1	7	4056919	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10		4056919	155081744	25	3559											
TWIST1	7291	mdanderson.org	37	chr7	19156499	19156499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctggccgccagcttgAgggtctgaatcttgctcagc	6	11	12	12	1	3	2	1	2	2	0	3	2	3	2	3	2	4	3	3	2	2	3			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr7:19156499A>G	ENST00000242261.5	-	1	796	c.446T>C	c.(445-447)cTc>cCc	p.L149P	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	149	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)			lung(2)|upper_aerodigestive_tract(1)	3						CGCCAGCTTGAGGGTCTGAAT	0.637																																					p.L149P													.	.			0			c.T446C												125	98	107					7																	19156499		2203	4300	6503	SO:0001583	missense	7291	exon1			AGCTTGAGGGTCT	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.446T>C	7.37:g.19156499A>G	ENSP00000242261:p.Leu149Pro		81	0	0		41	0.07	3	NM_000474	125	0	0	A4D128|Q92487|Q99804	Missense_Mutation	SNP	ENST00000242261.5	37	CCDS5367.1	.	.	.	.	.	.	.	.	.	.	a	17.23	3.336479	0.60963	.	.	ENSG00000122691	ENST00000242261	D	0.99828	-6.99	4.77	3.59	0.41128	Helix-loop-helix DNA-binding (5);	0.000000	0.43579	D	0.000549	D	0.99871	0.9939	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97357	0.9967	10	0.87932	D	0	-6.5882	10.3203	0.43762	0.852:0.0:0.0:0.148	.	149	Q15672	TWST1_HUMAN	P	149	ENSP00000242261:L149P	ENSP00000242261:L149P	L	-	2	0	TWIST1	19123024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.180000	0.94867	0.641000	0.30601	0.374000	0.22700	CTC			0.637	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207625.1		NM_000474		G	19156499	A	G	19156499	3	3	50	1	0	0	0	0	1	0	0	0	16807	304	11	4	166	4	TWIST1	7	19156499	Missense_Mutation	SNP	A	TCGA-2G-AAHC-01A-11D-A42Y-10	15099580	19156499	139982164	26	3560											
FZD1	8321	mdanderson.org	37	chr7	90894958	90894958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaccctcagcacggcGgcggagggcaccgtggcggc	7	2	16	16	5	1	0	1	0	0	0	1	1	1	1	3	6	3	3	3	6	1	0			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr7:90894958G>T	ENST00000287934.2	+	1	1176	c.763G>T	c.(763-765)Ggc>Tgc	p.G255C		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	255					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)			TCAGCACGGCGGCGGAGGGCA	0.721																																					p.G255C													.	.			0			c.G763T												6	7	7					7																	90894958		2101	4157	6258	SO:0001583	missense	8321	exon1			CACGGCGGCGGAG	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.763G>T	7.37:g.90894958G>T	ENSP00000287934:p.Gly255Cys		21	0	0		32	0.09	3	NM_003505	8	0	0	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302163	0.40694	.	.	ENSG00000157240	ENST00000287934	T	0.78003	-1.14	4.73	3.82	0.43975	.	0.445042	0.16863	N	0.196422	T	0.71264	0.3319	L	0.31926	0.97	0.42139	D	0.991506	P	0.49635	0.926	P	0.46253	0.509	T	0.74287	-0.3714	10	0.62326	D	0.03	.	11.301	0.49306	0.088:0.0:0.912:0.0	.	255	Q9UP38	FZD1_HUMAN	C	255	ENSP00000287934:G255C	ENSP00000287934:G255C	G	+	1	0	FZD1	90732894	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.512000	0.35812	2.453000	0.82957	0.511000	0.50034	GGC			0.721	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059367.2		NM_003505		T	90894958	G	T	90894958	3	4	50	1	0	0	0	0	1	0	0	0	6141	1116	39	1	765	1	FZD1	7	90894958	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	71738459	90894958	68243705	27	3561											
THAP5	168451	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	108204781	108204781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgctcttttaactctaGaagagttatctttgaatgta	10	19	7	5	0	3	3	0	1	3	2	3	3	3	3	0	0	2	4	0	0	6	8			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr7:108204781G>T	ENST00000415914.3	-	3	1195	c.1042C>A	c.(1042-1044)Cta>Ata	p.L348I	THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000313516.5_Missense_Mutation_p.L306I	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	348					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						TTTAACTCTAGAAGAGTTATC	0.358																																					p.L348I													.	THAP5	51		0			c.C1042A												88	88	88					7																	108204781		2202	4298	6500	SO:0001583	missense	168451	exon3			ACTCTAGAAGAGT	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.1042C>A	7.37:g.108204781G>T	ENSP00000400500:p.Leu348Ile		160	0.00625	1		102	0.11	11	NM_001130475	27	0.19	5		Missense_Mutation	SNP	ENST00000415914.3	37	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737282	0.69304	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.99194	-5.54;-3.98	4.63	4.63	0.57726	.	0.000000	0.29791	U	0.011199	D	0.98495	0.9498	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.98713	1.0705	9	.	.	.	.	16.8395	0.85964	0.0:0.0:1.0:0.0	.	348	Q7Z6K1	THAP5_HUMAN	I	348;306	ENSP00000400500:L348I;ENSP00000322440:L306I	.	L	-	1	2	THAP5	107992017	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.270000	0.58896	2.292000	0.77174	0.650000	0.86243	CTA			0.358	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337777.2		NM_182529		T	108204781	G	T	108204781	3	4	50	1	0	0	0	0	1	0	0	0	15870	933	33	3	149	3	THAP5	7	108204781	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	17309823	108204781	50933882	28	3562											
BHLHE22	27319	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	65494286	65494286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgcctacctcaaccagggCcaggccatctcggctgcctc	6	7	10	18	2	2	0	1	0	1	0	5	0	2	0	6	3	3	1	6	3	2	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr8:65494286C>T	ENST00000321870.1	+	1	1473	c.939C>T	c.(937-939)ggC>ggT	p.G313G	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	313					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						TCAACCAGGGCCAGGCCATCT	0.697																																					p.G313G	Colon(113;104 1586 2865 9855 18065)												.	BHLHE22	21		0			c.C939T												11	10	10					8																	65494286		2192	4287	6479	SO:0001819	synonymous_variant	27319	exon1			CCAGGGCCAGGCC	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.939C>T	8.37:g.65494286C>T			27	0	0		26	0.15	4	NM_152414	1	0	0		Silent	SNP	ENST00000321870.1	37	CCDS6179.1																																																																																					0.697	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378549.1		NM_152414		T	65494286	C	T	65494286	2	4	50	1	0	0	0	0	0	0	0	1	1421	726	26	2		2	BHLHE22	8	65494286	Silent	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10		65494286	80869736	29	3563											
RDH10	157506	broad.mit.edu;mdanderson.org	37	chr8	74207595	74207595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtgctggccgcggcgcGctggctggtgcggcccaagg	2	7	19	13	6	0	0	0	0	0	0	1	0	0	0	2	6	2	4	2	6	1	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr8:74207595G>A	ENST00000240285.5	+	1	749	c.71G>A	c.(70-72)cGc>cAc	p.R24H	RDH10_ENST00000519380.1_5'Flank|RPL7_ENST00000396467.1_5'Flank|RPL7_ENST00000396466.1_Intron|RPL7_ENST00000352983.2_5'Flank|RP11-434I12.2_ENST00000520894.1_RNA|RPL7_ENST00000396465.1_5'Flank	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	24					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)			GCCGCGGCGCGCTGGCTGGTG	0.706																																					p.R24H													.	RDH10	31		0			c.G71A												8	11	10					8																	74207595		2139	4222	6361	SO:0001583	missense	157506	exon1			CGGCGCGCTGGCT	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.71G>A	8.37:g.74207595G>A	ENSP00000240285:p.Arg24His		27	0	0		34	0.09	3	NM_172037	10	0	0		Missense_Mutation	SNP	ENST00000240285.5	37	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	8.639	0.895596	0.17686	.	.	ENSG00000121039	ENST00000240285	D	0.84944	-1.92	3.61	1.56	0.23342	.	0.124359	0.50627	D	0.000104	T	0.61375	0.2342	N	0.08118	0	0.80722	D	1	P	0.43024	0.798	B	0.35182	0.197	T	0.56068	-0.8040	10	0.16420	T	0.52	.	6.1553	0.20334	0.4261:0.0:0.5739:0.0	.	24	Q8IZV5	RDH10_HUMAN	H	24	ENSP00000240285:R24H	ENSP00000240285:R24H	R	+	2	0	RDH10	74370149	1.000000	0.71417	0.988000	0.46212	0.344000	0.29017	2.231000	0.43009	0.718000	0.32166	0.462000	0.41574	CGC			0.706	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378982.1				A	74207595	G	A	74207595	3	1	50	1	0	0	0	0	1	0	0	0	13212	1087	38	1	73	1	RDH10	8	74207595	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	8713309	74207595	72156427	30	3564											
COL14A1	7373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	121210074	121210074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacagtatagtggtgaccCcagaatagaatggcacttga	13	9	11	8	0	0	4	0	2	0	2	0	4	0	4	2	2	1	3	2	2	5	4			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr8:121210074C>T	ENST00000297848.3	+	7	887	c.617C>T	c.(616-618)cCc>cTc	p.P206L	COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000537875.1_Missense_Mutation_p.P206L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.P206L	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)			AGTGGTGACCCCAGAATAGAA	0.408																																					p.P206L													.	.			0			c.C617T												120	123	122					8																	121210074		2203	4300	6503	SO:0001583	missense	7373	exon7			GTGACCCCAGAAT		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.617C>T	8.37:g.121210074C>T	ENSP00000297848:p.Pro206Leu		108	0	0		104	0.16	17	NM_021110	11	0	0		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613092	0.87258	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000434620	T;T;T;D	0.83755	-1.26;-1.26;-1.26;-1.76	5.36	4.48	0.54585	von Willebrand factor, type A (3);	0.052860	0.85682	N	0.000000	D	0.85579	0.5729	M	0.90082	3.085	0.80722	D	1	B	0.29162	0.235	B	0.26693	0.072	D	0.86216	0.1628	10	0.87932	D	0	.	13.9083	0.63850	0.0:0.9275:0.0:0.0725	.	206	Q05707	COEA1_HUMAN	L	206;206;206;19	ENSP00000443974:P206L;ENSP00000311809:P206L;ENSP00000297848:P206L;ENSP00000409461:P19L	ENSP00000297848:P206L	P	+	2	0	COL14A1	121279255	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.462000	0.80851	1.499000	0.48617	0.591000	0.81541	CCC			0.408	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313657.2		NM_021110		T	121210074	C	T	121210074	3	4	50	1	0	0	0	0	1	0	0	0	3673	623	22	3	639	3	COL14A1	8	121210074	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	47002479	121210074	25153948	31	3565											
GRINA	2907	broad.mit.edu	37	chr8	145065539	145065539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccccctttccagcccTccccctacggtcagccaggg	6	6	8	21	1	1	0	1	0	0	0	3	0	3	0	7	2	4	0	7	2	1	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr8:145065539T>C	ENST00000313269.5	+	2	426	c.148T>C	c.(148-150)Tcc>Ccc	p.S50P	GRINA_ENST00000395068.4_Missense_Mutation_p.S50P	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	50	Pro-rich.					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)			TTTCCAGCCCTCCCCCTACGG	0.716																																					p.S50P													.	GRINA	25		0			c.T148C												12	14	14					8																	145065539		2159	4236	6395	SO:0001583	missense	2907	exon2			CAGCCCTCCCCCT	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.148T>C	8.37:g.145065539T>C	ENSP00000314380:p.Ser50Pro		140	0	0		148	0.03	5	NM_001009184	263	0	1	B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	T	4.847	0.157542	0.09236	.	.	ENSG00000178719	ENST00000313269;ENST00000529301;ENST00000395068;ENST00000530898;ENST00000537637	T;T;T	0.23147	1.92;1.93;1.92	5.14	-2.0	0.07433	.	1.207690	0.05814	N	0.614483	T	0.12774	0.0310	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.23891	T	0.37	-13.2678	9.4642	0.38802	0.1058:0.0:0.5235:0.3707	.	50	Q7Z429	GRINA_HUMAN	P	50;50;50;50;31	ENSP00000314380:S50P;ENSP00000432706:S50P;ENSP00000378507:S50P	ENSP00000314380:S50P	S	+	1	0	GRINA	145137527	0.000000	0.05858	0.053000	0.19242	0.003000	0.03518	-0.497000	0.06428	-0.290000	0.09025	-0.346000	0.07831	TCC			0.716	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384048.1		NM_001009184		C	145065539	T	C	145065539	3	2	50	1	0	0	0	0	1	0	0	0	6800	1551	54	4	150	4	GRINA	8	145065539	Missense_Mutation	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10	23855465	145065539	1298483	32	3566											
RUSC2	9853	mdanderson.org	37	chr9	35548533	35548533	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaagagctagagctgacgGtaaggagcctaagggttagc	12	7	15	7	1	0	3	0	1	0	2	0	4	0	4	1	3	5	5	1	3	5	4			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr9:35548533G>T	ENST00000455600.1	+	2	2583		c.e2+1			NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2							cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGCTGACGGTAAGGAGCCT	0.597																																					.													.	.			0			c.2014+1G>T												46	52	50					9																	35548533		2203	4299	6502	SO:0001630	splice_region_variant	9853	exon2			CTGACGGTAAGGA	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2014+1G>T	9.37:g.35548533G>T			25	0	0		21	0.1	2	NM_014806	0		0	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Splice_Site	SNP	ENST00000455600.1	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846823	0.71603	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1505	0.93487	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUSC2	35538533	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.946000	0.70234	2.773000	0.95371	0.650000	0.86243	.			0.597	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052309.1		XM_048462	Intron	T	35548533	G	T	35548533	5	4	50	1	0	0	0	0	0	0	1	0	13774	1275	44	3	2017	3	RUSC2	9	35548533	Splice_Site	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		35548533	105664898	33	3567											
DDIT4	54541	mdanderson.org	37	chr10	74034544	74034544	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccaacctgatgcagctGctgcaggagagcctggccca	8	7	13	13	0	0	2	0	1	0	1	0	3	0	2	4	2	7	4	4	2	1	0			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr10:74034544G>T	ENST00000307365.3	+	3	498	c.297G>T	c.(295-297)ctG>ctT	p.L99L	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	99					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGATGCAGCTGCTGCAGGAGA	0.622											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L99L													.	.			0			c.G297T												98	102	101					10																	74034544		2203	4300	6503	SO:0001819	synonymous_variant	54541	exon3			GCAGCTGCTGCAG	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.297G>T	10.37:g.74034544G>T			58	0	0	1149	36	0.08	3	NM_019058	89	0	0	Q9H0S3	Silent	SNP	ENST00000307365.3	37	CCDS7315.1																																																																																					0.622	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048577.1		NM_019058		T	74034544	G	T	74034544	2	4	50	1	0	0	0	0	0	0	0	1	4333	1306	46	2		2	DDIT4	10	74034544	Silent	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		74034544	61500203	34	3568											
PKD2L1	9033	ucsc.edu	37	chr10	102050229	102050229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgatttgccttgtgggctGctcacaatagatcggcctag	7	11	11	12	2	1	1	1	0	0	1	2	2	1	1	3	2	2	2	3	2	3	4			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr10:102050229G>T	ENST00000318222.3	-	13	2437	c.2055C>A	c.(2053-2055)agC>agA	p.S685R	PKD2L1_ENST00000353274.3_Missense_Mutation_p.S685R|PKD2L1_ENST00000338519.3_Missense_Mutation_p.S610R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	685					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTTGTGGGCTGCTCACAATAG	0.532																																					p.S685R													.	PKD2L1	103		0			c.C2055A												73	61	65					10																	102050229		2203	4300	6503	SO:0001583	missense	9033	exon13			TGGGCTGCTCACA	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2055C>A	10.37:g.102050229G>T	ENSP00000325296:p.Ser685Arg		53	0	0		38	0.11	4	NM_016112	3	0	0	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.211461	0.01555	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.72394	-0.65;-0.65;-0.65	5.05	-10.1	0.00402	.	1.257480	0.05082	N	0.483766	T	0.48978	0.1530	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.36890	-0.9729	10	0.30854	T	0.27	1.8125	7.5925	0.28029	0.0789:0.3095:0.4696:0.1421	.	638;685	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	R	610;685;685;683	ENSP00000345068:S610R;ENSP00000266049:S685R;ENSP00000325296:S685R	ENSP00000325296:S685R	S	-	3	2	PKD2L1	102040219	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.989000	0.03736	-3.254000	0.00203	0.313000	0.20887	AGC			0.532	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049863.2		NM_016112		T	102050229	G	T	102050229	3	4	50	1	0	0	0	0	1	0	0	0	11984	1310	46	2	378	2	PKD2L1	10	102050229	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	28015685	102050229	33484518	35	3569											
MUC6	4588	bcgsc.ca	37	chr11	1016871	1016871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taggacctgtggaagagaagGgactgctccctgtaggtggg	9	8	17	7	0	0	1	0	0	0	1	1	5	1	4	2	5	1	2	2	5	4	2	rs554068781		TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr11:1016871G>T	ENST00000421673.2	-	31	5980	c.5930C>A	c.(5929-5931)cCc>cAc	p.P1977H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1977	Thr-rich.				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)		GGAAGAGAAGGGACTGCTCCC	0.587																																					p.P1977H													.	MUC6	408		0			c.C5930A												1308	1300	1302					11																	1016871		2203	4299	6502	SO:0001583	missense	4588	exon31			GAGAAGGGACTGC	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.5930C>A	11.37:g.1016871G>T	ENSP00000406861:p.Pro1977His		409	0.02200489	9		357	0.04	13	NM_005961	1	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923756	0.34002	.	.	ENSG00000184956	ENST00000421673	T	0.18657	2.2	2.69	1.71	0.24356	.	.	.	.	.	T	0.14614	0.0353	L	0.29908	0.895	0.09310	N	1	B	0.29212	0.237	B	0.28553	0.091	T	0.22382	-1.0218	9	0.56958	D	0.05	.	7.0992	0.25327	0.0:0.0:0.7301:0.2699	.	1977	Q6W4X9	MUC6_HUMAN	H	1977	ENSP00000406861:P1977H	ENSP00000406861:P1977H	P	-	2	0	MUC6	1006871	0.015000	0.18098	0.001000	0.08648	0.026000	0.11368	1.250000	0.32850	0.416000	0.25844	0.306000	0.20318	CCC			0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		T	1016871	G	T	1016871	3	4	50	1	0	0	0	0	1	0	0	0	9996	1232	43	3	1401	3	MUC6	11	1016871	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		1016871	133989645	36	3570											
OR51B6	390058	broad.mit.edu	37	chr11	5373576	5373576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgagctacatccacttccTtttcccaccttttatgaacc	10	14	3	14	0	0	2	0	2	0	0	3	2	3	2	5	0	3	1	5	0	4	6			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr11:5373576T>C	ENST00000380219.1	+	1	839	c.839T>C	c.(838-840)cTt>cCt	p.L280P	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	280					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCACTTCCTTTTCCCACCT	0.393																																					p.L280P													.	OR51B6	53		0			c.T839C												166	155	159					11																	5373576		2201	4297	6498	SO:0001583	missense	390058	exon1			ACTTCCTTTTCCC		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.839T>C	11.37:g.5373576T>C	ENSP00000369568:p.Leu280Pro		115	0	0		92	0.03	3	NM_001004750	0		0		Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179342	0.57800	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00207	8.55	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000201	T	0.00815	0.0027	H	0.96111	3.77	0.52501	D	0.999959	D	0.89917	1.0	D	0.80764	0.994	T	0.43015	-0.9417	10	0.87932	D	0	.	9.1268	0.36821	0.0:0.0855:0.0:0.9145	.	280	Q9H340	O51B6_HUMAN	P	279;280	ENSP00000369568:L280P	ENSP00000369568:L280P	L	+	2	0	OR51B6	5330152	0.307000	0.24500	0.896000	0.35187	0.898000	0.52572	3.590000	0.53979	2.148000	0.66965	0.528000	0.53228	CTT			0.393	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142960.1		NM_001004750		C	5373576	T	C	5373576	3	2	50	1	0	0	0	0	1	0	0	0	11109	1609	56	4	841	4	OR51B6	11	5373576	Missense_Mutation	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10	4356705	5373576	129632940	37	3571											
CAPN1	823	bcgsc.ca	37	chr11	64956151	64956152	+	Frame_Shift_Ins	INS	-	-	ACACCAC																															ccggaccatccgcaaatggaINSacaccacactctacgaaggc																										TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr11:64956151_64956152insACACCAC	ENST00000527323.1	+	9	1339_1340	c.1099_1100insACACCAC	c.(1099-1101)aacfs	p.-369fs	CAPN1_ENST00000533820.1_Frame_Shift_Ins_p.-369fs|CAPN1_ENST00000533129.1_Frame_Shift_Ins_p.-369fs|CAPN1_ENST00000524773.1_Frame_Shift_Ins_p.-369fs|CAPN1_ENST00000279247.6_Frame_Shift_Ins_p.-369fs			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGCAAATGGAACACCACACTC	0.644																																					p.N367fs													.	CAPN1	44		0			c.1099_1100insACACCAC																																									SO:0001589	frameshift_variant	823	exon10			AAATGGAACACCA	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1100_1106dupACACCAC	11.37:g.64956152_64956158dupACACCAC	ENSP00000431984:p.Thr369fs		115	0	0		84	0.06	5	NM_001198869	128	0	0	Q2TTR0|Q6DHV4	Frame_Shift_Ins	INS	ENST00000527323.1	37	CCDS44644.1																																																																																					0.644	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385325.1				ACACCAC	64956152	-	ACACCAC	64956151	7	5	50	1	0	1	1	0	0	0	0	0	2624	246	9	0	1133	0	CAPN1	11	64956151	Frame_Shift_Ins	INS	-	TCGA-2G-AAHC-01A-11D-A42Y-10	59582575	64956151	70050365	38	3572											
PPFIA1	8500	mdanderson.org	37	chr11	70184504	70184504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtcctaaacattgaaGcactgagggctgaactagac	13	9	10	9	0	0	4	0	3	0	1	1	4	1	4	1	1	4	3	1	1	5	4			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr11:70184504G>T	ENST00000253925.7	+	13	1731	c.1516G>T	c.(1516-1518)Gca>Tca	p.A506S	PPFIA1_ENST00000389547.3_Missense_Mutation_p.A506S|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	506					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAACATTGAAGCACTGAGGGC	0.413																																					p.A506S													.	.			0			c.G1516T												142	134	137					11																	70184504		2200	4294	6494	SO:0001583	missense	8500	exon13			ATTGAAGCACTGA	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1516G>T	11.37:g.70184504G>T	ENSP00000253925:p.Ala506Ser		60	0	0		39	0.08	3	NM_003626	92	0	0	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.885|4.885	0.164414|0.164414	0.09287|0.09287	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547|ENST00000530798	T;T|.	0.35048|.	1.33;1.33|.	4.45|4.45	2.41|2.41	0.29592|0.29592	.|.	0.162937|.	0.44097|.	U|.	0.000484|.	T|T	0.08891|0.08891	0.0220|0.0220	N|N	0.01576|0.01576	-0.805|-0.805	0.24323|0.24323	N|N	0.995039|0.995039	B;B|.	0.11235|.	0.001;0.004|.	B;B|.	0.09377|.	0.004;0.004|.	T|T	0.28808|0.28808	-1.0032|-1.0032	10|5	0.72032|.	D|.	0.01|.	.|.	4.5077|4.5077	0.11896|0.11896	0.1759:0.0:0.5387:0.2854|0.1759:0.0:0.5387:0.2854	.|.	506;506|.	Q13136;Q13136-2|.	LIPA1_HUMAN;.|.	S|I	506|57	ENSP00000253925:A506S;ENSP00000374198:A506S|.	ENSP00000253925:A506S|.	A|S	+|+	1|2	0|0	PPFIA1|PPFIA1	69862152|69862152	0.991000|0.991000	0.36638|0.36638	0.494000|0.494000	0.27515|0.27515	0.049000|0.049000	0.14656|0.14656	1.401000|1.401000	0.34589|0.34589	1.026000|1.026000	0.39733|0.39733	0.655000|0.655000	0.94253|0.94253	GCA|AGC			0.413	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000393905.1		NM_003626		T	70184504	G	T	70184504	3	4	50	1	0	0	0	0	1	0	0	0	12326	971	34	2	1562	2	PPFIA1	11	70184504	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	5228353	70184504	64822012	39	3573											
AMOTL1	154810	mdanderson.org	37	chr11	94592856	94592856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgacactttgccatgaatgCcgcagccactgcagcagctg	9	7	10	15	2	0	1	0	1	0	0	0	2	0	1	4	0	6	4	4	0	1	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr11:94592856C>T	ENST00000433060.2	+	9	2252	c.2111C>T	c.(2110-2112)gCc>gTc	p.A704V	AMOTL1_ENST00000317829.8_Missense_Mutation_p.A654V|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	704					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)				GCCATGAATGCCGCAGCCACT	0.527																																					p.A704V													.	.			0			c.C2111T												26	30	29					11																	94592856		2193	4298	6491	SO:0001583	missense	154810	exon9			TGAATGCCGCAGC	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.2111C>T	11.37:g.94592856C>T	ENSP00000387739:p.Ala704Val		92	0	0		35	0.09	3	NM_130847	5	0	0	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606608	0.66558	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.28069	1.66;1.63	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	M	0.65498	2.005	0.80722	D	1	D;D	0.55605	0.972;0.972	D;D	0.64687	0.918;0.928	T	0.51949	-0.8640	10	0.62326	D	0.03	-19.2403	20.6634	0.99662	0.0:1.0:0.0:0.0	.	654;704	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	V	654;704	ENSP00000320968:A654V;ENSP00000387739:A704V	ENSP00000320968:A654V	A	+	2	0	AMOTL1	94232504	1.000000	0.71417	0.237000	0.24090	0.032000	0.12392	5.872000	0.69636	2.894000	0.99253	0.655000	0.94253	GCC			0.527	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396474.3		NM_130847		T	94592856	C	T	94592856	3	4	50	1	0	0	0	0	1	0	0	0	583	739	26	2	2145	2	AMOTL1	11	94592856	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	24408352	94592856	40413660	40	3574											
C11orf1	64776	mdanderson.org	37	chr11	111754552	111754552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaactggatcctccccGatacaaatgcacagaaaagt	15	7	7	12	1	0	2	0	1	0	1	2	4	2	3	4	1	3	1	4	1	5	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr11:111754552G>T	ENST00000260276.3	+	4	738	c.401G>T	c.(400-402)cGa>cTa	p.R134L	C11orf1_ENST00000529270.1_Missense_Mutation_p.R174L|C11orf1_ENST00000528125.1_Missense_Mutation_p.R88L|C11orf1_ENST00000530214.1_Missense_Mutation_p.D112Y	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	134						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		GATCCTCCCCGATACAAATGC	0.393																																					p.R134L													.	.			0			c.G401T												123	118	120					11																	111754552		2201	4297	6498	SO:0001583	missense	64776	exon4			CTCCCCGATACAA	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.401G>T	11.37:g.111754552G>T	ENSP00000260276:p.Arg134Leu		81	0	0		54	0.06	3	NM_022761	40	0	0	Q6I9X7|Q9NQC6	Missense_Mutation	SNP	ENST00000260276.3	37	CCDS8350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.268|7.268	0.606592|0.606592	0.14002|0.14002	.|.	.|.	ENSG00000137720|ENSG00000137720	ENST00000530214|ENST00000528125;ENST00000260276;ENST00000529270	T|T;T;T	0.27256|0.25085	1.68|1.82;1.82;1.82	5.37|5.37	-8.06|-8.06	0.01102|0.01102	.|.	.|1.441010	.|0.04218	.|N	.|0.332982	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.11329	.|0.006;0.003	T|T	0.25882|0.25882	-1.0119|-1.0119	7|10	0.59425|0.27785	D|T	0.04|0.31	-15.9739|-15.9739	4.8838|4.8838	0.13692|0.13692	0.2596:0.4116:0.2517:0.0772|0.2596:0.4116:0.2517:0.0772	.|.	.|174;134	.|E9PMC1;Q9H5F2	.|.;CK001_HUMAN	Y|L	112|88;134;174	ENSP00000435864:D112Y|ENSP00000433224:R88L;ENSP00000260276:R134L;ENSP00000431180:R174L	ENSP00000435864:D112Y|ENSP00000260276:R134L	D|R	+|+	1|2	0|0	C11orf1|C11orf1	111259762|111259762	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.232000|0.232000	0.25224|0.25224	-1.946000|-1.946000	0.01536|0.01536	-1.089000|-1.089000	0.03073|0.03073	-1.000000|-1.000000	0.02509|0.02509	GAT|CGA			0.393	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391650.1		NM_022761		T	111754552	G	T	111754552	3	4	50	1	0	0	0	0	1	0	0	0	1631	1058	37	1	415	1	C11orf1	11	111754552	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	17161696	111754552	23251964	41	3575											
RERGL	79785	mdanderson.org	37	chr12	18238558	18238558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgttttacttacttgaGaacaagggtcatatatttct	10	19	7	5	0	2	1	1	1	1	1	2	2	2	1	0	1	3	2	0	1	6	9			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr12:18238558G>T	ENST00000229002.2	-	4	388	c.182C>A	c.(181-183)tCt>tAt	p.S61Y	RERGL_ENST00000538724.1_Missense_Mutation_p.S60Y|RERGL_ENST00000536890.1_Missense_Mutation_p.S60Y|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	61	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						ACTTACTTGAGAACAAGGGTC	0.279																																					p.S61Y													.	.			0			c.C182A												109	109	109					12																	18238558		2202	4296	6498	SO:0001583	missense	79785	exon4			ACTTGAGAACAAG	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.182C>A	12.37:g.18238558G>T	ENSP00000229002:p.Ser61Tyr		57	0	0		41	0.07	3	NM_024730	0		0		Missense_Mutation	SNP	ENST00000229002.2	37	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038112	0.54896	.	.	ENSG00000111404	ENST00000229002;ENST00000538724;ENST00000536890	T;T;T	0.76839	-1.05;-1.05;-0.49	4.1	4.1	0.47936	.	0.128954	0.53938	D	0.000041	D	0.87696	0.6242	M	0.79926	2.475	0.80722	D	1	B;D	0.76494	0.067;0.999	B;D	0.72982	0.039;0.979	D	0.89093	0.3484	10	0.62326	D	0.03	.	15.7719	0.78176	0.0:0.0:1.0:0.0	.	60;61	F5H686;Q9H628	.;RERGL_HUMAN	Y	61;60;60	ENSP00000229002:S61Y;ENSP00000437814:S60Y;ENSP00000437490:S60Y	ENSP00000229002:S61Y	S	-	2	0	RERGL	18129825	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	5.692000	0.68256	2.561000	0.86390	0.557000	0.71058	TCT			0.279	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000401198.1		NM_024730		T	18238558	G	T	18238558	3	4	50	1	0	0	0	0	1	0	0	0	13256	942	33	3	447	3	RERGL	12	18238558	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		18238558	115613337	42	3576											
ASCL1	429	mdanderson.org	37	chr12	103352218	103352218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcaggcgccgcagCtgagaccggcggccgacggc	8	1	17	15	6	0	1	0	1	0	1	0	3	0	1	3	4	4	5	3	4	0	0			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr12:103352218C>T	ENST00000266744.3	+	1	755	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	66					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						gGCGCCGCAGCTGAGACCGGC	0.736																																					p.L66L													.	.			0			c.C196T												3	4	3					12																	103352218		1388	2954	4342	SO:0001819	synonymous_variant	429	exon1			CCGCAGCTGAGAC	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.196C>T	12.37:g.103352218C>T			35	0	0		44	0.07	3	NM_004316	0		0	A8K3C4|Q9BQ30	Silent	SNP	ENST00000266744.3	37	CCDS31886.1																																																																																					0.736	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406707.1				T	103352218	C	T	103352218	2	4	50	1	0	0	0	0	0	0	0	1	1034	796	28	2		2	ASCL1	12	103352218	Silent	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	85113660	103352218	30499677	43	3577											
NT5DC3	51559	mdanderson.org	37	chr12	104190747	104190747	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tattcattcacgcaggacagGagggtcatctcgggcaggga	10	8	14	9	2	4	0	3	0	1	0	5	3	4	3	0	5	0	2	0	5	1	3			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr12:104190747G>T	ENST00000392876.3	-	6	718	c.678C>A	c.(676-678)ctC>ctA	p.L226L	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	226						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CGCAGGACAGGAGGGTCATCT	0.478																																					p.L226L													.	.			0			c.C678A												189	160	170					12																	104190747		2203	4300	6503	SO:0001819	synonymous_variant	51559	exon6			GGACAGGAGGGTC	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.678C>A	12.37:g.104190747G>T			72	0	0		42	0.07	3	NM_001031701	19	0	0	Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	CCDS41824.1																																																																																					0.478	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347118.2		NM_016575		T	104190747	G	T	104190747	2	4	50	1	0	0	0	0	0	0	0	1	10709	1161	41	3		3	NT5DC3	12	104190747	Silent	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	838529	104190747	29661148	44	3578											
CYSLTR2	57105	mdanderson.org	37	chr13	49280977	49280977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagaaaatttatgtccttGcaaccatccatctccgtatc	12	12	6	11	1	1	1	0	0	1	1	5	3	3	1	4	0	2	2	4	0	5	4			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr13:49280977G>T	ENST00000282018.3	+	1	27	c.24G>T	c.(22-24)ttG>ttT	p.L8F		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	8					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)	TTATGTCCTTGCAACCATCCA	0.373																																					p.L8F													.	.			0			c.G24T												71	74	73					13																	49280977		2203	4300	6503	SO:0001583	missense	57105	exon1			GTCCTTGCAACCA	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.24G>T	13.37:g.49280977G>T	ENSP00000282018:p.Leu8Phe		67	0	0		45	0.07	3	NM_020377	0		0	Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450099	0.43531	.	.	ENSG00000152207	ENST00000282018	T	0.71461	-0.57	5.17	-0.933	0.10431	.	1.204550	0.06530	U	0.741242	T	0.44201	0.1282	N	0.08118	0	0.09310	N	1	P	0.38582	0.638	B	0.37304	0.246	T	0.30090	-0.9990	10	0.10902	T	0.67	.	5.1821	0.15165	0.409:0.0:0.4574:0.1336	.	8	Q9NS75	CLTR2_HUMAN	F	8	ENSP00000282018:L8F	ENSP00000282018:L8F	L	+	3	2	CYSLTR2	48178978	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.489000	0.22387	0.072000	0.16694	-0.137000	0.14449	TTG			0.373	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044894.1				T	49280977	G	T	49280977	3	4	50	1	0	0	0	0	1	0	0	0	4204	1310	46	2	26	2	CYSLTR2	13	49280977	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		49280977	65888901	45	3579											
LRRC16B	90668	mdanderson.org	37	chr14	24529228	24529228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgagcgacatctcccaaGcctatcgcagcgcgcctgag	8	6	11	16	5	1	2	0	2	1	0	3	3	1	2	4	0	3	1	4	0	2	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr14:24529228G>T	ENST00000342740.5	+	23	2072	c.1918G>T	c.(1918-1920)Gcc>Tcc	p.A640S	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	640						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)		CATCTCCCAAGCCTATCGCAG	0.662																																					p.A640S													.	.			0			c.G1918T												148	129	135					14																	24529228		2203	4300	6503	SO:0001583	missense	90668	exon23			TCCCAAGCCTATC	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.1918G>T	14.37:g.24529228G>T	ENSP00000340467:p.Ala640Ser		46	0	0		49	0.06	3	NM_138360	10	0	0	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742841	0.69418	.	.	ENSG00000186648	ENST00000342740	T	0.54279	0.58	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	L	0.52126	1.63	0.80722	D	1	D	0.58268	0.982	P	0.51657	0.676	T	0.56691	-0.7937	10	0.38643	T	0.18	-17.5941	14.7808	0.69766	0.0:0.0:1.0:0.0	.	640	Q8ND23	LR16B_HUMAN	S	640	ENSP00000340467:A640S	ENSP00000340467:A640S	A	+	1	0	LRRC16B	23599068	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.200000	0.95010	2.331000	0.79229	0.561000	0.74099	GCC			0.662	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416527.1		NM_138360		T	24529228	G	T	24529228	3	4	50	1	0	0	0	0	1	0	0	0	8988	971	34	2	2008	2	LRRC16B	14	24529228	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		24529228	82820312	46	3580											
MYO9A	4649	mdanderson.org	37	chr15	72208799	72208799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgtagtgtcagtcttGtcaggtgctttaaagaattt	9	17	10	5	0	4	1	2	0	2	1	4	2	4	1	0	1	1	2	0	1	4	6			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr15:72208799G>T	ENST00000356056.5	-	19	3069	c.2597C>A	c.(2596-2598)aCa>aAa	p.T866K	MYO9A_ENST00000424560.1_Missense_Mutation_p.T866K|MYO9A_ENST00000566885.1_Missense_Mutation_p.T486K|MYO9A_ENST00000444904.1_Missense_Mutation_p.T847K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.T866K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	866	Myosin motor.				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						TGTCAGTCTTGTCAGGTGCTT	0.358																																					p.T866K													.	.			0			c.C2597A												93	96	95					15																	72208799		2199	4297	6496	SO:0001583	missense	4649	exon19			AGTCTTGTCAGGT	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.2597C>A	15.37:g.72208799G>T	ENSP00000348349:p.Thr866Lys		67	0	0		45	0.07	3	NM_006901	32	0	0	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062651	0.55432	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.84298	-1.83;-1.83;-1.83	5.24	4.31	0.51392	Myosin head, motor domain (1);	.	.	.	.	T	0.72358	0.3450	N	0.02539	-0.55	0.37208	D	0.904676	P;B;B	0.44429	0.835;0.002;0.1	P;B;B	0.45794	0.493;0.008;0.063	T	0.78868	-0.2034	9	0.37606	T	0.19	.	14.8048	0.69945	0.0:0.1453:0.8547:0.0	.	847;847;866	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	K	866;866;847;847	ENSP00000348349:T866K;ENSP00000399162:T866K;ENSP00000398250:T847K	ENSP00000261864:T847K	T	-	2	0	MYO9A	69995853	0.998000	0.40836	0.998000	0.56505	0.986000	0.74619	4.577000	0.60922	1.405000	0.46838	0.655000	0.94253	ACA			0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257308.1		NM_006901		T	72208799	G	T	72208799	3	4	50	1	0	0	0	0	1	0	0	0	10100	1377	48	3	5145	3	MYO9A	15	72208799	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		72208799	30322593	47	3581											
TSC2	7249	mdanderson.org	37	chr16	2106707	2106707	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccggctgagagcctcccGctgttcatcgttaccctctg	4	11	10	16	3	2	1	1	1	1	1	4	2	3	1	4	1	3	4	4	1	1	2	rs189380607		TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr16:2106707G>T	ENST00000219476.3	+	8	1341	c.711G>T	c.(709-711)ccG>ccT	p.P237P	TSC2_ENST00000439673.2_Silent_p.P200P|TSC2_ENST00000401874.2_Silent_p.P237P|TSC2_ENST00000568454.1_Silent_p.P248P|TSC2_ENST00000350773.4_Silent_p.P237P|TSC2_ENST00000382538.6_Silent_p.P188P|TSC2_ENST00000353929.4_Silent_p.P237P	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	237	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGAGCCTCCCGCTGTTCATCG	0.617			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.P237P			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	.	.			0			c.G711T												103	93	96					16																	2106707		2198	4300	6498	SO:0001819	synonymous_variant	7249	exon8	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	CCTCCCGCTGTTC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.711G>T	16.37:g.2106707G>T			61	0	0		39	0.08	3	NM_001114382	40	0.03	1	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	CCDS10458.1																																																																																					0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250657.2		NM_000548		T	2106707	G	T	2106707	2	4	50	1	0	0	0	0	0	0	0	1	16630	1074	38	1		1	TSC2	16	2106707	Silent	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		2106707	88248046	48	3582											
OR2C1	4993	mdanderson.org	37	chr16	3406282	3406282	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccaccgagtgcatcctGctggtggtgatggcatttga	6	10	16	9	1	0	2	0	2	0	0	1	3	1	2	3	5	2	3	3	5	0	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr16:3406282G>T	ENST00000304936.2	+	1	394	c.342G>T	c.(340-342)ctG>ctT	p.L114L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	114					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						AGTGCATCCTGCTGGTGGTGA	0.587																																					p.L114L													.	.			0			c.G342T												47	38	41					16																	3406282		2197	4300	6497	SO:0001819	synonymous_variant	4993	exon1			CATCCTGCTGGTG	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.342G>T	16.37:g.3406282G>T			48	0	0		32	0.09	3	NM_012368	3	0	0	A0AVA4|Q6IF34|Q6IF55	Silent	SNP	ENST00000304936.2	37	CCDS10502.1																																																																																					0.587	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206993.3				T	3406282	G	T	3406282	2	4	50	1	0	0	0	0	0	0	0	1	11009	1306	46	2		2	OR2C1	16	3406282	Silent	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	1299575	3406282	86948471	49	3583											
IL27	55911	broad.mit.edu	37	chr16	28511194	28511194	+	IGR	SNP	C	C	T																															ctctcctcctcctcctcctcCtcttcctcctcctcctcctc																										TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr16:28511194C>T	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.E170E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						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						cctcctcctcctcttcctcct	0.677																																					p.E170E													.	IL27	27		0			c.G510A												9	10	9					16																	28511194		2158	4227	6385	SO:0001628	intergenic_variant	246778	exon5			CTCCTCCTCTTCC	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			16.37:g.28511194C>T			48	0	0		47	0.09	4	NM_145659	4	0	0	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																						0.677	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_182804		T	28511194	C	T	28511194	1	4	50	0	1	0	0	0	0	0	0	0	7695	680	24	3		3	IL27	16	28511194	IGR	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	25104912	28511194	61843559	50	3584	4	2									
IL27	55911	broad.mit.edu	37	chr16	28511197	28511197	+	IGR	SNP	T	T	C																															tcctcctcctcctcctcctcTtcctcctcctcctcctccgg																										TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr16:28511197T>C	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.E169E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						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						cctcctcctcttcctcctcct	0.672																																					p.E169E													.	IL27	27		0			c.A507G												8	9	9					16																	28511197		2149	4215	6364	SO:0001628	intergenic_variant	246778	exon5			CTCCTCTTCCTCC	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			16.37:g.28511197T>C			44	0	0		46	0.11	5	NM_145659	4	0	0	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																						0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_182804		C	28511197	T	C	28511197	1	2	50	0	1	0	0	0	0	0	0	0	7695	1606	56	4		4	IL27	16	28511197	IGR	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10	3	28511197	61843556	51	3585	4	2									
METT10D	79066	mdanderson.org	37	chr17	2323696	2323696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcccctggccagttcttgGctattgccagactctttggg	4	12	13	12	0	2	1	0	0	2	1	2	1	2	1	4	4	1	2	4	4	1	5			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr17:2323696G>T	ENST00000263092.6	-	10	1384	c.1257C>A	c.(1255-1257)agC>agA	p.S419R	METTL16_ENST00000538844.1_Missense_Mutation_p.S201R|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	419				S -> R (in Ref. 1; BAB55094). {ECO:0000305}.			methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CCAGTTCTTGGCTATTGCCAG	0.642																																					p.S419R													.	.			0			c.C1257A												67	73	71					17																	2323696		1817	4072	5889	SO:0001583	missense	79066	exon10			TTCTTGGCTATTG	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1257C>A	17.37:g.2323696G>T	ENSP00000263092:p.Ser419Arg		47	0	0		35	0.09	3	NM_024086	45	0	0	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372834	0.24857	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.44881	0.93;0.91	5.62	4.65	0.58169	.	0.373752	0.30365	N	0.009791	T	0.28995	0.0720	L	0.29908	0.895	0.31948	N	0.610021	B	0.24823	0.112	B	0.20767	0.031	T	0.28522	-1.0041	10	0.15952	T	0.53	-3.0548	12.192	0.54277	0.083:0.0:0.9169:0.0	.	419	Q86W50	MET16_HUMAN	R	419;99;201	ENSP00000263092:S419R;ENSP00000443633:S201R	ENSP00000263092:S419R	S	-	3	2	METTL16	2270446	0.962000	0.33011	0.779000	0.31741	0.427000	0.31564	2.634000	0.46528	1.371000	0.46172	0.609000	0.83330	AGC			0.642	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437653.2		NM_024086		T	2323696	G	T	2323696	3	4	50	1	0	0	0	0	1	0	0	0	9506	1194	42	2	435	2	METT10D	17	2323696	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		2323696	78871514	52	3586											
NEURL4	84461	mdanderson.org	37	chr17	7225246	7225246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggccatgagcatagccagCggcacgcactgccctcgtgc	9	5	12	15	3	0	1	0	1	0	0	1	1	0	1	3	2	5	3	3	2	2	1	rs199946910		TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr17:7225246C>T	ENST00000399464.2	-	17	2824	c.2809G>A	c.(2809-2811)Gct>Act	p.A937T	NEURL4_ENST00000570460.1_Missense_Mutation_p.A913T|NEURL4_ENST00000315614.7_Missense_Mutation_p.A935T|RP11-542C16.2_ENST00000575474.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	937	NHR 5. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATAGCCAGCGGCACGCACT	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		21009	0		0	False		,,,				2504	0				p.A937T													.	.			0			c.G2809A							C	THR/ALA,THR/ALA	2,4286		0,2,2142	104	104	104		2803,2809	2.8	0.1	17		104	0,8480		0,0,4240	no	missense,missense	NEURL4	NM_001005408.1,NM_032442.2	58,58	0,2,6382	TT,TC,CC		0.0,0.0466,0.0157	benign,benign	935/1561,937/1563	7225246	2,12766	2144	4240	6384	SO:0001583	missense	84461	exon17			AGCCAGCGGCACG		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2809G>A	17.37:g.7225246C>T	ENSP00000382390:p.Ala937Thr		44	0	0		41	0.07	3	NM_032442	24	0	0	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.46	1.355761	0.24598	4.66E-4	0.0	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.30714	1.53;1.52	5.87	2.84	0.33178	NEUZ (3);	0.316276	0.33309	N	0.005041	T	0.18299	0.0439	N	0.25485	0.75	0.29130	N	0.879716	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.22208	-1.0223	10	0.15066	T	0.55	-0.6577	9.4594	0.38776	0.0:0.7686:0.0:0.2314	.	935;937	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	T	935;937	ENSP00000319826:A935T;ENSP00000382390:A937T	ENSP00000319826:A935T	A	-	1	0	NEURL4	7165970	0.739000	0.28196	0.124000	0.21820	0.354000	0.29330	1.536000	0.36072	0.404000	0.25506	-0.136000	0.14681	GCT	0		0.592	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255434.2		NM_032442		T	7225246	C	T	7225246	3	4	50	1	0	0	0	0	1	0	0	0	10364	768	27	1	1931	1	NEURL4	17	7225246	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	4901550	7225246	73969964	53	3587											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		220	0.05	11		148	0.07	10	NM_145301	36	0.42	15	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	50	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	8231841	15457087	65738123	54	3588											
CCL15	6359	mdanderson.org	37	chr17	34325386	34325386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaacacgggatgctttGtgagatgtaggaggtgcagc	10	9	17	5	1	0	2	0	2	0	1	0	6	0	4	0	3	4	3	0	3	2	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr17:34325386G>T	ENST00000354059.4	-	3	730	c.178C>A	c.(178-180)Caa>Aaa	p.Q60K	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.Q60K	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	60					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGATGCTTTGTGAGATGTAG	0.493																																					p.Q60K													.	.			0			c.C178A												77	65	69					17																	34325386		2203	4300	6503	SO:0001583	missense	6359	exon3			TGCTTTGTGAGAT	AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"Chemokine ligands", "Endogenous ligands"	10613	protein-coding gene	gene with protein product	"leukotactin 1", "CC chemokine 3", "macrophage inflammatory protein 5", "chemokine CC-2", "MIP-1 delta"	601393	"small inducible cytokine subfamily A (Cys-Cys), member 15"	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.178C>A	17.37:g.34325386G>T	ENSP00000293276:p.Gln60Lys		61	0	0		44	0.09	4	NM_032965	3	0	0	B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	ENST00000354059.4	37	CCDS11304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.76|12.76	2.034702|2.034702	0.35893|0.35893	.|.	.|.	ENSG00000161574|ENSG00000161574	ENST00000394506|ENST00000354059	.|T	.|0.04049	.|3.72	4.44|4.44	4.44|4.44	0.53790|0.53790	.|CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	.|0.410909	.|0.21511	.|N	.|0.073363	T|T	0.03871|0.03871	0.0109|0.0109	N|N	0.11870|0.11870	0.19|0.19	0.09310|0.09310	N|N	1|1	.|B	.|0.27192	.|0.171	.|B	.|0.30646	.|0.118	T|T	0.42783|0.42783	-0.9431|-0.9431	5|10	.|0.40728	.|T	.|0.16	.|.	12.7539|12.7539	0.57323|0.57323	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|60	.|Q16663	.|CCL15_HUMAN	Q|K	7|60	.|ENSP00000293276:Q60K	.|ENSP00000293276:Q60K	H|Q	-|-	3|1	2|0	CCL15|CCL15	31349499|31349499	0.002000|0.002000	0.14202|0.14202	0.007000|0.007000	0.13788|0.13788	0.013000|0.013000	0.08279|0.08279	1.113000|1.113000	0.31184|0.31184	2.437000|2.437000	0.82529|0.82529	0.655000|0.655000	0.94253|0.94253	CAC|CAA			0.493	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256584.2		NM_004167		T	34325386	G	T	34325386	3	4	50	1	0	0	0	0	1	0	0	0	2888	1386	48	3	171	3	CCL15	17	34325386	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	18868299	34325386	46869824	55	3589											
PLEKHH3	79990	mdanderson.org	37	chr17	40822007	40822007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccagggccaggtaggCggccatggcctcagctcggc	5	4	16	16	4	1	0	1	0	0	0	2	0	1	0	5	6	1	2	5	6	1	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr17:40822007C>T	ENST00000591022.1	-	11	2329	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A645T|PLEKHH3_ENST00000412503.1_Intron|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	648	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCCAGGTAGGCGGCCATGGCC	0.711																																					p.A648T													.	.			0			c.G1942A												24	21	22					17																	40822007		2200	4293	6493	SO:0001583	missense	79990	exon11			GGTAGGCGGCCAT	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1942G>A	17.37:g.40822007C>T	ENSP00000468678:p.Ala648Thr		37	0	0		33	0.09	3	NM_024927	9	0	0	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997061	0.74818	.	.	ENSG00000068137	ENST00000456950;ENST00000293349	T	0.40756	1.02	4.11	0.989	0.19802	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.297741	0.24217	N	0.040478	T	0.18341	0.0440	N	0.11255	0.115	0.80722	D	1	B;B	0.21821	0.061;0.021	B;B	0.15052	0.012;0.005	T	0.06625	-1.0816	10	0.13853	T	0.58	-3.7732	7.7048	0.28644	0.0:0.5722:0.0:0.4278	.	645;648	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	T	307;648	ENSP00000293349:A648T	ENSP00000293349:A648T	A	-	1	0	PLEKHH3	38075533	0.627000	0.27129	1.000000	0.80357	0.985000	0.73830	0.727000	0.25999	0.492000	0.27815	-0.224000	0.12420	GCC			0.711	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000452332.1		NM_024927		T	40822007	C	T	40822007	3	4	50	1	0	0	0	0	1	0	0	0	12095	768	27	1	451	1	PLEKHH3	17	40822007	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	6496621	40822007	40373203	56	3590											
KCNH6	81033	broad.mit.edu	37	chr17	61607872	61607872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccataaggtggtggagcGgacacagaacgtcactgaga	12	5	14	10	2	1	2	1	1	0	2	1	5	1	4	2	4	2	0	2	4	2	1	rs146703318		TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr17:61607872G>T	ENST00000583023.1	+	4	655	c.644G>T	c.(643-645)cGg>cTg	p.R215L	KCNH6_ENST00000456941.2_Missense_Mutation_p.R215L|KCNH6_ENST00000580652.1_Missense_Mutation_p.R215L|KCNH6_ENST00000314672.5_Missense_Mutation_p.R215L|KCNH6_ENST00000581784.1_Missense_Mutation_p.R215L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	215					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GTGGTGGAGCGGACACAGAAC	0.622																																					p.R215L													.	KCNH6	122		0			c.G644T												103	83	90					17																	61607872		2203	4300	6503	SO:0001583	missense	81033	exon4			TGGAGCGGACACA	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.644G>T	17.37:g.61607872G>T	ENSP00000463533:p.Arg215Leu		109	0	0		103	0.04	4	NM_030779	1	0	0	Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372346	0.42003	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.94376	-3.41;-3.41	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	M	0.73598	2.24	0.53005	D	0.999966	D;D;P;D;P	0.76494	0.999;0.979;0.766;0.995;0.948	D;P;P;D;P	0.74674	0.984;0.769;0.597;0.934;0.846	D	0.96817	0.9601	10	0.72032	D	0.01	.	18.1092	0.89529	0.0:0.0:1.0:0.0	.	92;215;215;215;215	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	L	215	ENSP00000318212:R215L;ENSP00000396900:R215L	ENSP00000318212:R215L	R	+	2	0	KCNH6	58961604	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.860000	0.86993	2.515000	0.84797	0.462000	0.41574	CGG			0.622	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443853.1		NM_030779		T	61607872	G	T	61607872	3	4	50	1	0	0	0	0	1	0	0	0	8051	1116	39	1	658	1	KCNH6	17	61607872	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	20785865	61607872	19587338	57	3591											
GPRC5C	55890	mdanderson.org	37	chr17	72436963	72436963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccatggatgagccggttGcaggtgggtctctgtggatg	5	13	16	7	1	1	1	0	1	1	0	3	3	2	3	2	5	2	2	2	5	0	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr17:72436963G>T	ENST00000392627.1	+	2	2309	c.1183G>T	c.(1183-1185)Gca>Tca	p.A395S	GPRC5C_ENST00000392629.2_Missense_Mutation_p.A362S|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A35S|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	350					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGAGCCGGTTGCAGGTGGGTC	0.552																																					p.A395S													.	.			0			c.G1183T												73	71	72					17																	72436963		2203	4300	6503	SO:0001583	missense	55890	exon2			CCGGTTGCAGGTG	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1183G>T	17.37:g.72436963G>T	ENSP00000376403:p.Ala395Ser		38	0	0		37	0.08	3	NM_022036	256	0	0	B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.689630	0.00738	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18174	2.23	4.9	1.28	0.21552	.	0.521148	0.21578	N	0.072291	T	0.05318	0.0141	N	0.01482	-0.84	0.19300	N	0.999975	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.41698	-0.9494	10	0.08599	T	0.76	-18.1132	12.2085	0.54365	0.0:0.0:0.476:0.524	.	350;350;362	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	S	350;395;61;362;350	ENSP00000376405:A362S	ENSP00000262616:A61S	A	+	1	0	GPRC5C	69948558	0.526000	0.26298	0.451000	0.26982	0.381000	0.30169	0.641000	0.24720	0.030000	0.15379	0.561000	0.74099	GCA			0.552	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000145094.2				T	72436963	G	T	72436963	3	4	50	1	0	0	0	0	1	0	0	0	6741	1319	46	2	1197	2	GPRC5C	17	72436963	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	10829091	72436963	8758247	58	3592											
DUS1L	64118	mdanderson.org	37	chr17	80018749	80018749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcacctgcctgacaccGcagcttcagctcctggctca	7	7	8	19	1	2	1	2	1	0	0	3	1	3	1	5	1	4	5	5	1	0	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr17:80018749G>A	ENST00000354321.7	-	8	1416	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	DUS1L_ENST00000306796.5_Missense_Mutation_p.R311W			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	311							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCCTGACACCGCAGCTTCAGC	0.662																																					p.R311W													.	.			0			c.C931T												43	40	41					17																	80018749		2202	4300	6502	SO:0001583	missense	64118	exon9			GACACCGCAGCTT		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.931C>T	17.37:g.80018749G>A	ENSP00000346280:p.Arg311Trp		37	0	0		37	0.08	3	NM_022156	143	0	0	A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778828	0.49891	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.35605	1.34;1.34;1.3	5.28	5.28	0.74379	.	0.053250	0.85682	D	0.000000	T	0.34308	0.0893	M	0.64080	1.96	0.80722	D	1	B;P	0.37398	0.148;0.593	B;B	0.30572	0.077;0.117	T	0.25882	-1.0119	10	0.51188	T	0.08	-27.7187	13.8062	0.63233	0.0:0.0:0.8466:0.1534	.	311;180	Q6P1R4;Q9BTJ3	DUS1L_HUMAN;.	W	311;311;174;179	ENSP00000346280:R311W;ENSP00000303515:R311W;ENSP00000445110:R179W	ENSP00000303515:R311W	R	-	1	2	DUS1L	77612038	1.000000	0.71417	0.985000	0.45067	0.894000	0.52154	5.992000	0.70609	2.467000	0.83353	0.561000	0.74099	CGG			0.662	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442347.1		NM_022156		A	80018749	G	A	80018749	3	1	50	1	0	0	0	0	1	0	0	0	4810	1086	38	1	514	1	DUS1L	17	80018749	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	7581786	80018749	1176461	59	3593											
MC4R	4160	mdanderson.org	37	chr18	58039043	58039043	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgatgaacaaaatgccTgaaaccgtgcaagctgccca	16	7	8	10	1	0	3	0	3	0	0	0	3	0	3	3	0	6	2	3	0	7	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr18:58039043T>C	ENST00000299766.3	-	1	958	c.540A>G	c.(538-540)tcA>tcG	p.S180S		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	180					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				ACAAAATGCCTGAAACCGTGC	0.438																																					p.S180S													.	.			0			c.A540G												89	81	83					18																	58039043		2203	4300	6503	SO:0001819	synonymous_variant	4160	exon1			AATGCCTGAAACC	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.540A>G	18.37:g.58039043T>C			46	0	0		38	0.08	3	NM_005912	0		0	B2RAC3|Q16317|Q3MIJ6	Silent	SNP	ENST00000299766.3	37	CCDS11976.1																																																																																					0.438	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256139.1		NM_005912		C	58039043	T	C	58039043	2	2	50	1	0	0	0	0	0	0	0	1	9382	1567	55	4		4	MC4R	18	58039043	Silent	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10		58039043	20038205	60	3594											
CCDC102B	79839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	66504042	66504042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattaattgaggaaacacaGatcttccagatgcaacaatc	16	9	7	9	1	1	3	0	1	1	2	3	5	2	4	1	1	3	1	1	1	4	3			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr18:66504042G>T	ENST00000360242.5	+	2	159	c.42G>T	c.(40-42)caG>caT	p.Q14H	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.Q14H|CCDC102B_ENST00000358653.5_Missense_Mutation_p.Q14H|CCDC102B_ENST00000584156.1_Missense_Mutation_p.Q14H	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	14										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGGAAACACAGATCTTCCAGA	0.413																																					p.Q14H													.	.			0			c.G42T												56	56	56					18																	66504042		1922	4113	6035	SO:0001583	missense	79839	exon4			AACACAGATCTTC	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.42G>T	18.37:g.66504042G>T	ENSP00000353377:p.Gln14His		52	0	0		43	0.14	6	NM_001093729	4	0	0	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	7.314	0.615609	0.14129	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.20881	2.56;2.04;2.56	5.17	-4.25	0.03766	.	0.253660	0.27787	N	0.017847	T	0.09730	0.0239	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.16802	0.008;0.019	B;B	0.18561	0.009;0.022	T	0.10268	-1.0637	10	0.40728	T	0.16	-1.636	6.4919	0.22119	0.2739:0.3917:0.3344:0.0	.	14;14	Q68D86-3;Q68D86	.;C102B_HUMAN	H	14	ENSP00000316237:Q14H;ENSP00000351479:Q14H;ENSP00000353377:Q14H	ENSP00000316237:Q14H	Q	+	3	2	CCDC102B	64655022	0.009000	0.17119	0.086000	0.20670	0.587000	0.36485	0.198000	0.17217	-1.111000	0.02988	-0.384000	0.06662	CAG			0.413	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256225.2		NM_024781		T	66504042	G	T	66504042	3	4	50	1	0	0	0	0	1	0	0	0	2739	933	33	3	44	3	CCDC102B	18	66504042	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	8464999	66504042	11573206	61	3595											
PTBP1	5725	mdanderson.org	37	chr19	804539	804539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctcccacagcgggcccAggcggccctgcaggcggtga	5	4	16	16	3	0	1	0	1	0	0	1	1	1	1	4	5	3	1	4	5	0	0			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr19:804539A>G	ENST00000349038.4	+	6	516	c.443A>G	c.(442-444)cAg>cGg	p.Q148R	PTBP1_ENST00000356948.6_Missense_Mutation_p.Q148R|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.Q148R|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	148					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		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)		CAGCGGGCCCAGGCGGCCCTG	0.781																																					p.Q148R													.	.			0			c.A443G												14	18	16					19																	804539		2194	4226	6420	SO:0001583	missense	5725	exon6			GGGCCCAGGCGGC	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.443A>G	19.37:g.804539A>G	ENSP00000014112:p.Gln148Arg		17	0	0		22	0.09	2	NM_031991	530	0	1	Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.343374	0.41498	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.48836	0.82;0.8;1.14	4.81	4.81	0.61882	.	0.061459	0.64402	D	0.000003	T	0.57651	0.2068	M	0.78049	2.395	0.80722	D	1	B;B;B	0.29085	0.232;0.2;0.029	B;B;B	0.40038	0.104;0.317;0.076	T	0.62445	-0.6853	10	0.62326	D	0.03	-39.2304	13.5836	0.61917	1.0:0.0:0.0:0.0	.	148;148;148	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	R	148	ENSP00000349428:Q148R;ENSP00000408096:Q148R;ENSP00000014112:Q148R	ENSP00000014112:Q148R	Q	+	2	0	PTBP1	755539	1.000000	0.71417	0.998000	0.56505	0.469000	0.32828	5.858000	0.69532	1.806000	0.52798	0.533000	0.62120	CAG			0.781	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457605.1				G	804539	A	G	804539	3	3	50	1	0	0	0	0	1	0	0	0	12745	188	7	4	465	4	PTBP1	19	804539	Missense_Mutation	SNP	A	TCGA-2G-AAHC-01A-11D-A42Y-10		804539	58324444	62	3596											
CD97	976	mdanderson.org	37	chr19	14513646	14513646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaccttgagtcctccgatgGggaggcgggaagagaccctc	8	6	14	13	2	0	2	0	1	0	1	3	6	2	4	5	4	0	0	5	4	1	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr19:14513646G>T	ENST00000242786.5	+	12	1501	c.1421G>T	c.(1420-1422)gGg>gTg	p.G474V	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.G425V|CD97_ENST00000358600.3_Missense_Mutation_p.G381V	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	474					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCCTCCGATGGGGAGGCGGGA	0.577																																					p.G474V													.	.			0			c.G1421T												128	112	117					19																	14513646		2203	4300	6503	SO:0001583	missense	976	exon12			CCGATGGGGAGGC		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1421G>T	19.37:g.14513646G>T	ENSP00000242786:p.Gly474Val		48	0	0		51	0.06	3	NM_078481	252	0	0	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	7.246	0.602172	0.13939	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.70045	-0.45;-0.36;0.02	3.96	1.81	0.25067	.	.	.	.	.	T	0.39436	0.1078	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.26809	0.034;0.16;0.003	B;B;B	0.22601	0.027;0.04;0.006	T	0.20840	-1.0263	9	0.17369	T	0.5	.	6.0593	0.19828	0.2393:0.0:0.7607:0.0	.	381;425;474	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	V	474;425;381;424	ENSP00000242786:G474V;ENSP00000349918:G425V;ENSP00000351413:G381V	ENSP00000242786:G474V	G	+	2	0	CD97	14374646	0.106000	0.21978	0.001000	0.08648	0.008000	0.06430	2.026000	0.41069	0.329000	0.23460	0.400000	0.26472	GGG			0.577	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459821.2		NM_078481		T	14513646	G	T	14513646	3	4	50	1	0	0	0	0	1	0	0	0	3051	1232	43	3	1467	3	CD97	19	14513646	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	13709107	14513646	44615337	63	3597											
LOC729991-MEF2B	100271849	mdanderson.org	37	chr19	19256700	19256700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcgaggagcaagggatagGggaaggtcttaggaaagtcg	12	5	20	4	2	1	0	0	0	1	0	2	5	1	4	0	7	1	1	0	7	5	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr19:19256700G>T	ENST00000602424.2	-	10	1627	c.901C>A	c.(901-903)Cct>Act	p.P301T	MEF2B_ENST00000162023.5_Missense_Mutation_p.P338H|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P318T|MEF2B_ENST00000409224.1_3'UTR|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P301T|MEF2B_ENST00000424583.2_Missense_Mutation_p.P338H|MEF2B_ENST00000410050.1_Missense_Mutation_p.P345H|MEF2B_ENST00000409447.2_Missense_Mutation_p.P256H	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	301					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)			CAAGGGATAGGGGAAGGTCTT	0.741																																					p.P338H													.	.			0			c.C1013A												2	3	3					19																	19256700		1667	3504	5171	SO:0001583	missense	100271849	exon9			GGATAGGGGAAGG	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.901C>A	19.37:g.19256700G>T	ENSP00000473308:p.Pro301Thr		29	0	0		22	0.14	3	NM_001145785	5	0	0	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	CCDS12394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.50|17.50	3.404715|3.404715	0.62288|0.62288	.|.	.|.	ENSG00000213999|ENSG00000213999	ENST00000424583;ENST00000410050;ENST00000409447;ENST00000162023|ENST00000444486	D;D;D|D	0.92545|0.86432	-3.06;-3.05;-3.06|-2.12	4.11|4.11	0.431|0.431	0.16523|0.16523	.|.	1.775420|1.775420	0.04098|0.04098	N|N	0.312455|0.312455	T|T	0.69415|0.69415	0.3108|0.3108	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;P|P	0.45827|0.39480	0.697;0.41;0.867|0.675	B;B;B|B	0.43950|0.34093	0.339;0.258;0.437|0.175	T|T	0.64106|0.64106	-0.6485|-0.6485	10|10	0.23302|0.16420	T|T	0.38|0.52	-0.3699|-0.3699	3.8898|3.8898	0.09114|0.09114	0.2286:0.0:0.5821:0.1894|0.2286:0.0:0.5821:0.1894	.|.	303;345;338|301	B8ZZJ5;C9J4J4;G5E9M1|Q02080	.;.;.|MEF2B_HUMAN	H|T	338;345;303;338|301	ENSP00000402154:P338H;ENSP00000386374:P345H;ENSP00000162023:P338H|ENSP00000390762:P301T	ENSP00000162023:P338H|ENSP00000390762:P301T	P|P	-|-	2|1	0|0	MEF2B|MEF2B	19117700|19117700	0.127000|0.127000	0.22367|0.22367	0.001000|0.001000	0.08648|0.08648	0.957000|0.957000	0.61999|0.61999	2.801000|2.801000	0.47908|0.47908	0.303000|0.303000	0.22785|0.22785	0.491000|0.491000	0.48974|0.48974	CCC|CCT			0.741	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_005919		T	19256700	G	T	19256700	3	4	50	1	0	0	0	0	1	0	0	0	8905	1232	43	3	200	3	LOC729991-MEF2B	19	19256700	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	4743054	19256700	39872283	64	3598											
NUDT19	390916	broad.mit.edu	37	chr19	33183263	33183263	+	Frame_Shift_Del	DEL	T	T	-																															tctgcgccgtgcgggaggccTttgaggaggcgggcgtgctg																								rs546154641		TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr19:33183263delT	ENST00000397061.3	+	1	397	c.397delT	c.(397-399)tttfs	p.F133fs	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	133	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GCGGGAGGCCTTTGAGGAGGC	0.716																																					p.F133fs													.	NUDT19	15		0			c.397delT												13	17	15					19																	33183263		2104	4215	6319	SO:0001589	frameshift_variant	390916	exon1			GAGGCCTTTGAGG		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.397delT	19.37:g.33183263delT	ENSP00000380251:p.Phe133fs		16	0	0		6	0.33	2	NM_001105570	1	0	0		Frame_Shift_Del	DEL	ENST00000397061.3	37	CCDS42543.1																																																																																					0.716	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000450338.3		XM_372723		-	33183263	T	-	33183263	7	5	50	1	0	1	0	1	0	0	0	0	10753	1609	56	0	399	0	NUDT19	19	33183263	Frame_Shift_Del	DEL	T	TCGA-2G-AAHC-01A-11D-A42Y-10	13926563	33183263	25945720	65	3599											
PPP1R14A	94274	mdanderson.org	37	chr19	38746835	38746835	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttctccacgtccagccGccgctgcagctcccgccggt	4	7	9	21	5	1	0	0	0	1	0	4	0	3	0	7	1	3	3	7	1	0	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr19:38746835G>T	ENST00000301242.4	-	1	396	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	PPP1R14A_ENST00000591291.1_Silent_p.R49R|PPP1R14A_ENST00000347262.4_Silent_p.R49R|PPP1R14A_ENST00000587515.1_5'Flank|PPP1R14A_ENST00000591585.1_Silent_p.R49R	NM_033256.2	NP_150281.1	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	49	Inhibitory.				regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGTCCAGCCGCCGCTGCAGC	0.731																																					p.R49R													.	.			0			c.C145A												5	6	6					19																	38746835		2026	3991	6017	SO:0001819	synonymous_variant	94274	exon1			CCAGCCGCCGCTG	AB056508	CCDS12509.1, CCDS58660.1	19q13.1	2012-04-17		2001-07-02	ENSG00000167641	ENSG00000167641		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14871	protein-coding gene	gene with protein product	"17-kDa PKC-potentiated inhibitory protein of PP1", "PKC-potentiated inhibitory protein of PP1", "17-KDa protein"	608153		PPP1INL		11467857	Standard	NM_033256		Approved	CPI-17	uc002ohq.3	Q96A00		ENST00000301242.4:c.145C>A	19.37:g.38746835G>T			33	0	0		28	0.11	3	NM_033256	67	0	0	Q7Z4X7|Q96S54	Silent	SNP	ENST00000301242.4	37	CCDS12509.1																																																																																					0.731	PPP1R14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458164.1		NM_033256		T	38746835	G	T	38746835	2	4	50	1	0	0	0	0	0	0	0	1	12379	1086	38	1		1	PPP1R14A	19	38746835	Silent	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	5563572	38746835	20382148	66	3600											
CD79A	973	mdanderson.org	37	chr19	42383293	42383293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccatgggggcatatacGtgtgccgggtccaggagggc	8	6	18	9	2	0	1	0	0	0	1	1	2	1	2	3	5	3	1	3	5	2	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr19:42383293G>T	ENST00000221972.3	+	2	498	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	CD79A_ENST00000444740.2_Intron	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	105	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GGGCATATACGTGTGCCGGGT	0.637			"O, S"		DLBCL																																p.V105L				Dom	yes		19	19q13.2	973	"CD79a molecule, immunoglobulin-associated alpha"		L	.	.			0			c.G313T												73	64	67					19																	42383293		2203	4300	6503	SO:0001583	missense	973	exon2			ATATACGTGTGCC	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.313G>T	19.37:g.42383293G>T	ENSP00000221972:p.Val105Leu		18	0	0		20	0.15	3	NM_001783	148	0	0	A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	G	5.030	0.191288	0.09547	.	.	ENSG00000105369	ENST00000221972	T	0.64260	-0.09	5.06	-5.99	0.02213	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.604720	0.03628	N	0.237454	T	0.31979	0.0814	N	0.08118	0	0.19775	N	0.999957	B	0.02656	0.0	B	0.04013	0.001	T	0.10428	-1.0630	10	0.15952	T	0.53	-3.4258	1.7318	0.02933	0.3949:0.3125:0.0993:0.1932	.	105	P11912	CD79A_HUMAN	L	105	ENSP00000221972:V105L	ENSP00000221972:V105L	V	+	1	0	CD79A	47075133	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.769000	0.04710	-0.992000	0.03472	-2.547000	0.00178	GTG			0.637	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463058.1				T	42383293	G	T	42383293	3	4	50	1	0	0	0	0	1	0	0	0	3038	1145	40	1	319	1	CD79A	19	42383293	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	3636458	42383293	16745690	67	3601											
COL18A1	80781	mdanderson.org	37	chr21	46897716	46897716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttccgggcccacctggccGggcaggccccccaggatccc	4	5	13	19	2	0	0	0	0	0	0	2	1	2	1	8	5	0	2	8	5	0	1	rs373030953		TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chr21:46897716G>T	ENST00000359759.4	+	7	2324	c.2303G>T	c.(2302-2304)cGg>cTg	p.R768L	COL18A1_ENST00000400337.2_Missense_Mutation_p.R353L|COL18A1_ENST00000355480.5_Missense_Mutation_p.R533L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	768	Triple-helical region 1 (COL1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCACCTGGCCGGGCAGGCCCC	0.701																																					p.R533L													.	.			0			c.G1598T												8	11	10					21																	46897716		1769	3928	5697	SO:0001583	missense	80781	exon7			CTGGCCGGGCAGG		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2303G>T	21.37:g.46897716G>T	ENSP00000352798:p.Arg768Leu		41	0	0		47	0.06	3	NM_030582	43	0	0	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37		.	.	.	.	.	.	.	.	.	.	G	9.174	1.021808	0.19433	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.60672	0.17;0.17;0.17	2.84	1.93	0.25924	.	1.967240	0.02808	N	0.123966	T	0.43612	0.1255	N	0.17723	0.515	0.21416	N	0.999691	B;B;B	0.24483	0.063;0.104;0.104	B;B;B	0.27796	0.038;0.083;0.083	T	0.26292	-1.0107	10	0.07482	T	0.82	.	10.216	0.43168	0.0:0.7816:0.2184:0.0	.	768;533;353	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	L	353;353;533;768;768	ENSP00000383191:R353L;ENSP00000347665:R533L;ENSP00000352798:R768L	ENSP00000347665:R533L	R	+	2	0	COL18A1	45722144	0.003000	0.15002	0.159000	0.22649	0.003000	0.03518	-1.168000	0.03123	0.300000	0.22699	-0.321000	0.08615	CGG			0.701	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000206827.1				T	46897716	G	T	46897716	3	4	50	1	0	0	0	0	1	0	0	0	3677	1116	39	1	2443	1	COL18A1	21	46897716	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10		46897716	1232179	68	3602											
FAM47C	442444	broad.mit.edu	37	chrX	37028094	37028094	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccagtctccaccaggcAcctcctgagagtagcgtatc	8	9	10	14	1	1	1	0	1	1	1	5	2	3	1	5	1	1	3	5	1	2	2			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chrX:37028094A>G	ENST00000358047.3	+	1	1663	c.1611A>G	c.(1609-1611)gcA>gcG	p.A537A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	537										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						TCCACCAGGCACCTCCTGAGA	0.597																																					p.A537A													.	FAM47C	267		0			c.A1611G												85	85	85					X																	37028094		2202	4300	6502	SO:0001819	synonymous_variant	442444	exon1			CCAGGCACCTCCT	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.1611A>G	X.37:g.37028094A>G			64	0	0		72	0.07	5	NM_001013736	1	0	0	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																					0.597	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060508.1		NM_001013736		G	37028094	A	G	37028094	2	3	50	1	0	0	0	0	0	0	0	1	5584	146	6	4		4	FAM47C	23	37028094	Silent	SNP	A	TCGA-2G-AAHC-01A-11D-A42Y-10		37028094	118242466	69	3603											
PRRG1	5638	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	37312624	37312624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaccccccccaccagAtgaagtgtttgacagcagtg	10	6	8	17	0	0	3	0	2	0	1	0	3	0	3	7	0	1	2	7	0	1	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chrX:37312624A>G	ENST00000542554.1	+	5	679	c.407A>G	c.(406-408)gAt>gGt	p.D136G	PRRG1_ENST00000378628.4_Missense_Mutation_p.D136G|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.D136G|PRRG1_ENST00000543642.1_Missense_Mutation_p.D136G|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	136						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						CCCCCACCAGATGAAGTGTTT	0.502																																					p.D136G													.	PRRG1	42		0			c.A407G												110	108	109					X																	37312624		2202	4300	6502	SO:0001583	missense	5638	exon4			CACCAGATGAAGT	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.407A>G	X.37:g.37312624A>G	ENSP00000444278:p.Asp136Gly		164	0.0182926829	3		120	0.25	30	NM_001173490	5	0.2	1	B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882635	0.51908	.	.	ENSG00000130962	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000449135	D;D;D;D;D	0.98876	-5.15;-5.2;-5.15;-5.15;-5.15	6.16	6.16	0.99307	.	0.201597	0.51477	D	0.000084	D	0.94348	0.8183	N	0.08118	0	0.36073	D	0.84226	P	0.37781	0.608	B	0.35413	0.202	D	0.96101	0.9069	10	0.15499	T	0.54	-21.5782	14.4064	0.67086	1.0:0.0:0.0:0.0	.	136	O14668	TMG1_HUMAN	G	136	ENSP00000367894:D136G;ENSP00000418384:D136G;ENSP00000444278:D136G;ENSP00000443271:D136G;ENSP00000390332:D136G	ENSP00000367894:D136G	D	+	2	0	PRRG1	37197545	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	5.791000	0.69045	2.085000	0.62840	0.481000	0.45027	GAT			0.502	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056228.2		NM_000950		G	37312624	A	G	37312624	3	3	50	1	0	0	0	0	1	0	0	0	12625	333	12	4	499	4	PRRG1	23	37312624	Missense_Mutation	SNP	A	TCGA-2G-AAHC-01A-11D-A42Y-10	284530	37312624	117957936	70	3604											
CASK	8573	broad.mit.edu	37	chrX	41390360	41390360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcgtggctgccgtacTccaagtactcgttattagag	8	12	9	12	3	0	1	0	0	0	1	4	1	2	1	3	1	3	4	3	1	5	4			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chrX:41390360T>C	ENST00000378163.1	-	25	2894	c.2420A>G	c.(2419-2421)gAg>gGg	p.E807G	CASK_ENST00000318588.9_Missense_Mutation_p.E802G|CASK_ENST00000442742.2_Missense_Mutation_p.E779G|CASK_ENST00000361962.4_Missense_Mutation_p.E790G|CASK_ENST00000378166.4_Missense_Mutation_p.E802G|CASK_ENST00000378158.1_Missense_Mutation_p.E790G|CASK_ENST00000421587.2_Missense_Mutation_p.E778G			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	807	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GCTGCCGTACTCCAAGTACTC	0.463																																					p.E802G	NSCLC(42;104 1086 3090 27189 35040)												.	CASK	93		0			c.A2405G												201	138	160					X																	41390360		2203	4300	6503	SO:0001583	missense	8573	exon25			CCGTACTCCAAGT	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2420A>G	X.37:g.41390360T>C	ENSP00000367405:p.Glu807Gly		73	0	0		81	0.04	3	NM_003688	66	0	0	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	T	24.8	4.573244	0.86542	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	4.85	4.85	0.62838	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.49916	D	0.000122	D	0.88991	0.6588	H	0.96805	3.885	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.897;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.999;0.819;1.0;0.999;0.998	D	0.92404	0.5932	10	0.87932	D	0	.	13.8475	0.63477	0.0:0.0:0.0:1.0	.	778;779;802;807;399	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	G	778;802;790;807;399;262;790;802;779	ENSP00000400526:E778G;ENSP00000322727:E802G;ENSP00000354641:E790G;ENSP00000367405:E807G;ENSP00000367421:E399G;ENSP00000367410:E262G;ENSP00000367400:E790G;ENSP00000367408:E802G;ENSP00000398007:E779G	ENSP00000322727:E802G	E	-	2	0	CASK	41275304	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	7.698000	0.84413	1.714000	0.51371	0.417000	0.27973	GAG			0.463	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000056285.1		NM_003688		C	41390360	T	C	41390360	3	2	50	1	0	0	0	0	1	0	0	0	2667	1551	54	4	372	4	CASK	23	41390360	Missense_Mutation	SNP	T	TCGA-2G-AAHC-01A-11D-A42Y-10	4077736	41390360	113880200	71	3605											
SLC7A3	84889	hgsc.bcm.edu	37	chrX	70149798	70149798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcctgactccagtgtaCgtctgcgtaccagcttttga	7	12	9	13	2	1	2	0	2	1	0	2	2	2	2	4	0	5	3	4	0	2	4			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chrX:70149798C>T	ENST00000374299.3	-	2	194	c.50G>A	c.(49-51)cGt>cAt	p.R17H	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R17H			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	17					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTCCAGTGTACGTCTGCGTAC	0.532																																					p.R17H													.	.			0			c.G50A												77	65	69					X																	70149798		2203	4300	6503	SO:0001583	missense	84889	exon2			AGTGTACGTCTGC	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.50G>A	X.37:g.70149798C>T	ENSP00000363417:p.Arg17His		129	0	0		98	0.04	4	NM_032803	13	0	0	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937948	0.34189	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89050	-2.46;-2.46	4.98	4.98	0.66077	.	0.111517	0.64402	N	0.000012	D	0.86159	0.5866	L	0.58428	1.81	0.58432	D	0.999999	B	0.30326	0.276	B	0.20955	0.032	D	0.85073	0.0941	10	0.44086	T	0.13	.	16.2112	0.82164	0.0:1.0:0.0:0.0	.	17	Q8WY07	CTR3_HUMAN	H	17	ENSP00000363417:R17H;ENSP00000298085:R17H	ENSP00000298085:R17H	R	-	2	0	SLC7A3	70066523	0.999000	0.42202	0.928000	0.36995	0.024000	0.10985	4.198000	0.58419	2.285000	0.76669	0.600000	0.82982	CGT			0.532	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057080.1		NM_032803		T	70149798	C	T	70149798	3	4	50	1	0	0	0	0	1	0	0	0	14721	536	19	1	1853	1	SLC7A3	23	70149798	Missense_Mutation	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	28759438	70149798	85120762	72	3606											
HDAC8	55869	mdanderson.org	37	chrX	71571681	71571681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatcaggaccatatgctGtgaaaaactgtaaggaaaag	18	8	9	6	0	1	1	1	1	0	0	1	3	1	3	1	2	2	2	1	2	7	3			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chrX:71571681G>T	ENST00000373573.3	-	10	1354	c.1013C>A	c.(1012-1014)aCa>aAa	p.T338K	HDAC8_ENST00000373589.4_Missense_Mutation_p.T247K|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Missense_Mutation_p.T143K	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	338					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)	ACCATATGCTGTGAAAAACTG	0.428																																					p.T338K													.	.			0			c.C1013A												118	84	96					X																	71571681		2203	4300	6503	SO:0001583	missense	55869	exon10			TATGCTGTGAAAA	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.1013C>A	X.37:g.71571681G>T	ENSP00000362674:p.Thr338Lys		49	0	0		49	0.06	3	NM_018486	10	0	0	A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851679	0.51270	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103;ENST00000373568	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.79	4.79	0.61399	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	L	0.61036	1.89	0.80722	D	1	P;D;B	0.67145	0.534;0.996;0.024	B;D;B	0.64144	0.04;0.922;0.004	D	0.91184	0.4978	10	0.87932	D	0	-8.1196	14.8993	0.70666	0.0:0.0:1.0:0.0	.	247;247;338	B4DKN0;A6NGJ7;Q9BY41	.;.;HDAC8_HUMAN	K	338;247;143;247	ENSP00000362674:T338K;ENSP00000362691:T247K;ENSP00000388459:T143K;ENSP00000362669:T247K	ENSP00000362669:T247K	T	-	2	0	HDAC8	71488406	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.943000	0.75934	2.321000	0.78463	0.436000	0.28706	ACA			0.428	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057193.2		NM_018486		T	71571681	G	T	71571681	3	4	50	1	0	0	0	0	1	0	0	0	7028	1377	48	3	128	3	HDAC8	23	71571681	Missense_Mutation	SNP	G	TCGA-2G-AAHC-01A-11D-A42Y-10	1421883	71571681	83698879	73	3607											
GRIA3	2892	bcgsc.ca;mdanderson.org	37	chrX	122599615	122599615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtacgacaaaggagagtgCggcagcgggggcggtgactc	9	5	19	8	4	0	2	0	1	0	1	1	4	0	2	0	6	3	2	0	6	2	1			TCGA-2G-AAHC-01A-11D-A42Y-10	TCGA-2G-AAHC-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e622a5c0-a57b-4806-800d-d80da386ad04	f324e93c-3bef-4aaa-8cee-548b180cde75	g.chrX:122599615C>T	ENST00000371251.1	+	14	2467	c.2415C>T	c.(2413-2415)tgC>tgT	p.C805C	GRIA3_ENST00000264357.5_Silent_p.C805C|GRIA3_ENST00000542149.1_Silent_p.C805C|GRIA3_ENST00000371256.5_Intron|AL356213.1_ENST00000577653.1_RNA			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	805					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)	p.C805C(1)		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)	AAGGAGAGTGCGGCAGCGGGG	0.468																																					p.C805C													.	GRIA3	386		1	Substitution - coding silent(1)	endometrium(1)	c.C2415T												76	67	70					X																	122599615		2203	4300	6503	SO:0001819	synonymous_variant	2892	exon14			AGAGTGCGGCAGC	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.2415C>T	X.37:g.122599615C>T			121	0	0		109	0.05	5	NM_000828	0		0	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	CCDS14604.1																																																																																					0.468	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058854.1		NM_000828		T	122599615	C	T	122599615	2	4	50	1	0	0	0	0	0	0	0	1	6784	776	27	1		1	GRIA3	23	122599615	Silent	SNP	C	TCGA-2G-AAHC-01A-11D-A42Y-10	51027934	122599615	32670945	74	3608											
TAS1R3	83756	mdanderson.org	37	chr1	1267771	1267771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacgccctcttcaactacaGcatcagcagcaggctctcgc	9	7	7	18	2	4	0	2	0	2	0	5	0	4	0	2	1	5	4	2	1	2	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr1:1267771G>T	ENST00000339381.5	+	3	892	c.860G>T	c.(859-861)aGc>aTc	p.S287I		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	287					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)		TTCAACTACAGCATCAGCAGC	0.672																																					p.S287I													.	.			0			c.G860T												25	21	22					1																	1267771		2188	4286	6474	SO:0001583	missense	83756	exon3			ACTACAGCATCAG	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.860G>T	1.37:g.1267771G>T	ENSP00000344411:p.Ser287Ile		46	0	0		48	0.06	3	NM_152228	0		0	Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	6.294	0.422290	0.11928	.	.	ENSG00000169962	ENST00000339381	D	0.81659	-1.52	4.6	4.6	0.57074	Extracellular ligand-binding receptor (1);	0.189436	0.47093	D	0.000260	T	0.68081	0.2962	L	0.35793	1.09	0.34962	D	0.752329	B	0.17852	0.024	B	0.19666	0.026	T	0.63642	-0.6591	10	0.06757	T	0.87	.	11.1425	0.48411	0.0847:0.0:0.9153:0.0	.	287	Q7RTX0	TS1R3_HUMAN	I	287	ENSP00000344411:S287I	ENSP00000344411:S287I	S	+	2	0	TAS1R3	1257634	0.870000	0.30015	0.834000	0.33040	0.032000	0.12392	2.687000	0.46976	2.402000	0.81655	0.561000	0.74099	AGC			0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008493.1				T	1267771	G	T	1267771	3	4	51	1	0	0	0	0	1	0	0	0	15587	971	34	2	870	2	TAS1R3	1	1267771	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		1267771	247982850	1	3609											
NOTCH2	4853	broad.mit.edu	37	chr1	120458445	120458445	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcacaatggggggcaaGggctcccgaggggtggttat	10	7	17	7	1	1	0	1	0	0	0	2	1	2	0	1	7	0	3	1	7	4	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr1:120458445G>T	ENST00000256646.2	-	34	7119	c.6900C>A	c.(6898-6900)ccC>ccA	p.P2300P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2300					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)		TGGGGGGCAAGGGCTCCCGAG	0.622			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.P2300P				Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2	348		0			c.C6900A												55	59	57					1																	120458445		2203	4299	6502	SO:0001819	synonymous_variant	4853	exon34	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGGCAAGGGCTCC	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.6900C>A	1.37:g.120458445G>T			36	0	0		75	0.04	3	NM_024408	54	0	0	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																					0.622	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033679.1		NM_024408		T	120458445	G	T	120458445	2	4	51	1	0	0	0	0	0	0	0	1	10565	987	35	3		3	NOTCH2	1	120458445	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	119190674	120458445	128792176	2	3610											
DBI	1622	mdanderson.org	37	chr2	120129839	120129839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggacttccaaggaagatgCcatgaaagcttacatcaaca	16	7	9	9	0	1	2	1	1	0	1	2	4	2	4	2	2	4	1	2	2	5	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr2:120129839C>T	ENST00000355857.3	+	4	340	c.209C>T	c.(208-210)gCc>gTc	p.A70V	DBI_ENST00000460901.1_3'UTR|DBI_ENST00000535757.1_Missense_Mutation_p.A87V|DBI_ENST00000393103.2_Missense_Mutation_p.A71V|DBI_ENST00000542275.1_Missense_Mutation_p.A131V|DBI_ENST00000409094.1_Missense_Mutation_p.A87V|DBI_ENST00000535617.1_Missense_Mutation_p.A112V|DBI_ENST00000311521.4_Missense_Mutation_p.A87V	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	70	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						AAGGAAGATGCCATGAAAGCT	0.458																																					p.A131V													.	.			0			c.C392T												146	137	140					2																	120129839		2203	4300	6503	SO:0001583	missense	1622	exon4			AAGATGCCATGAA	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"endozepine"	125950	"diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.209C>T	2.37:g.120129839C>T	ENSP00000348116:p.Ala70Val		38	0	0		42	0.07	3	NM_001178017	911	0	0	B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	ENST00000355857.3	37	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030342	0.93575	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.54	5.54	0.83059	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.052168	0.85682	D	0.000000	D	0.86623	0.5977	H	0.98155	4.16	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.998;0.999;0.996	D;D;D;D;D	0.83275	0.964;0.996;0.939;0.989;0.982	D	0.90623	0.4561	10	0.87932	D	0	-3.2193	14.8575	0.70351	0.0:1.0:0.0:0.0	.	80;112;71;87;70	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	V	70;112;87;87;87;131;71	ENSP00000348116:A70V;ENSP00000442917:A112V;ENSP00000439012:A87V;ENSP00000386486:A87V;ENSP00000311117:A87V;ENSP00000440698:A131V;ENSP00000376815:A71V	ENSP00000311117:A87V	A	+	2	0	DBI	119846309	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.905000	0.69893	2.884000	0.98904	0.655000	0.94253	GCC			0.458	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330590.1		NM_020548		T	120129839	C	T	120129839	3	4	51	1	0	0	0	0	1	0	0	0	4253	739	26	2	529	2	DBI	2	120129839	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10		120129839	123069534	3	3611											
NR4A2	4929	mdanderson.org	37	chr2	157183293	157183293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaaagcaggtcttggtcgGctttgggcaggtctgcgaag	9	9	15	8	2	2	0	0	0	2	0	3	1	2	0	0	5	2	3	0	5	3	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr2:157183293G>T	ENST00000339562.4	-	6	1660	c.1298C>A	c.(1297-1299)gCc>gAc	p.A433D	NR4A2_ENST00000539077.1_Missense_Mutation_p.A444D|NR4A2_ENST00000409108.2_Missense_Mutation_p.A433D|NR4A2_ENST00000409572.1_Missense_Mutation_p.A433D|NR4A2_ENST00000429376.1_Missense_Mutation_p.A370D|NR4A2_ENST00000426264.1_Missense_Mutation_p.A370D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	433	Ligand-binding. {ECO:0000255}.				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						GTCTTGGTCGGCTTTGGGCAG	0.517																																					p.A433D													.	.			0			c.C1298A												145	156	152					2																	157183293		2203	4300	6503	SO:0001583	missense	4929	exon6			TGGTCGGCTTTGG	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.1298C>A	2.37:g.157183293G>T	ENSP00000344479:p.Ala433Asp		58	0	0		47	0.06	3	NM_006186	9	0	0	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	8.122	0.781217	0.16120	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.62	4.74	0.60224	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.302328	0.37261	N	0.002176	T	0.20414	0.0491	N	0.04959	-0.14	0.34696	D	0.726296	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.0	T	0.22208	-1.0223	10	0.17832	T	0.49	.	9.6179	0.39704	0.0713:0.0:0.7877:0.1411	.	86;433	C0KWD2;P43354	.;NR4A2_HUMAN	D	433;370;433;444;433;370	ENSP00000344479:A433D;ENSP00000389986:A370D;ENSP00000386747:A433D;ENSP00000444925:A444D;ENSP00000386993:A433D;ENSP00000410952:A370D	ENSP00000344479:A433D	A	-	2	0	NR4A2	156891539	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.386000	0.52492	1.502000	0.48669	0.557000	0.71058	GCC			0.517	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254909.2				T	157183293	G	T	157183293	3	4	51	1	0	0	0	0	1	0	0	0	10650	1203	42	2	510	2	NR4A2	2	157183293	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	37053454	157183293	86016080	4	3612											
DGKD	8527	mdanderson.org	37	chr2	234370999	234370999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcctctctagtatccGagaaatagctcagtctcacc	9	13	5	14	1	4	1	2	0	3	1	9	2	6	1	3	0	1	2	3	0	4	4			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr2:234370999G>T	ENST00000264057.2	+	25	2999	c.2987G>T	c.(2986-2988)cGa>cTa	p.R996L	DGKD_ENST00000409813.3_Missense_Mutation_p.R952L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	996					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		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;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCTAGTATCCGAGAAATAGCT	0.567																																					p.R996L													.	.			0			c.G2987T												75	69	71					2																	234370999		2203	4300	6503	SO:0001583	missense	8527	exon25			GTATCCGAGAAAT	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2987G>T	2.37:g.234370999G>T	ENSP00000264057:p.Arg996Leu		37	0	0		47	0.06	3	NM_152879	140	0	0	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784642	0.49997	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.80480	-1.21;-1.38	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000004	T	0.80270	0.4592	M	0.71581	2.175	0.39286	D	0.964648	D;P	0.53151	0.958;0.628	P;B	0.47299	0.543;0.326	T	0.79455	-0.1796	10	0.27082	T	0.32	.	10.9838	0.47510	0.0866:0.0:0.9134:0.0	.	952;996	Q16760-2;Q16760	.;DGKD_HUMAN	L	996;952	ENSP00000264057:R996L;ENSP00000386455:R952L	ENSP00000264057:R996L	R	+	2	0	DGKD	234035738	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.476000	0.81055	2.411000	0.81874	0.561000	0.74099	CGA			0.567	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257072.2		NM_003648		T	234370999	G	T	234370999	3	4	51	1	0	0	0	0	1	0	0	0	4472	1058	37	1	3109	1	DGKD	2	234370999	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	77187706	234370999	8828374	5	3613											
RHOA	387	ucsc.edu	37	chr3	49399927	49399927	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcctgccccagatcatGcctgcttcatcttggctagc	7	11	8	15	0	3	1	2	0	1	1	4	1	4	1	4	1	4	2	4	1	1	3			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr3:49399927G>T	ENST00000418115.1	-	4	793		c.e4+1		RHOA_ENST00000422781.1_Splice_Site|RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000454011.2_Splice_Site	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCCAGATCATGCCTGCTTCAT	0.517																																					.													.	RHOA	46		0			c.408+2C>A												150	136	141					3																	49399927		2203	4300	6503	SO:0001630	splice_region_variant	387	exon5			GATCATGCCTGCT	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.408+1C>A	3.37:g.49399927G>T			88	0	0		88	0.01	1	NM_001664	43	0.09	4	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Splice_Site	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134376	0.56828	.	.	ENSG00000067560	ENST00000418115;ENST00000422781	.	.	.	5.31	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1548	0.20332	0.3254:0.0:0.6746:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHOA	49374931	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	2.374000	0.44274	0.356000	0.24157	0.655000	0.94253	.			0.517	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346157.3		NM_001664	Intron	T	49399927	G	T	49399927	5	4	51	1	0	0	0	0	0	0	1	0	13354	1333	46	2	179	2	RHOA	3	49399927	Splice_Site	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		49399927	148622503	6	3614											
ANAPC10	10393	broad.mit.edu	37	chr4	145916698	145916698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgtacgagttggcttctTatgattgtcagttaagggaa	11	14	12	4	1	2	1	1	1	1	0	2	4	2	2	0	2	1	4	0	2	5	6			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr4:145916698T>C	ENST00000507656.1	-	5	478	c.385A>G	c.(385-387)Aag>Gag	p.K129E	ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.K129E|ANAPC10_ENST00000309439.5_Missense_Mutation_p.K129E	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	129	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				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)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					GTTGGCTTCTTATGATTGTCA	0.383																																					p.K140E													.	ANAPC10	12		0			c.A418G												124	122	123					4																	145916698		1861	4101	5962	SO:0001583	missense	10393	exon7			GCTTCTTATGATT	AF132794	CCDS43273.1	4q31	2011-06-15			ENSG00000164162	ENSG00000164162		"Anaphase promoting complex subunits"	24077	protein-coding gene	gene with protein product		613745				10318877, 11230166	Standard	NM_001256706		Approved	APC10, DOC1, DKFZP564L0562	uc031shk.1	Q9UM13	OTTHUMG00000161477	ENST00000507656.1:c.385A>G	4.37:g.145916698T>C	ENSP00000423995:p.Lys129Glu		171	0	0		112	0.03	3	NM_001256709	123	0	0	D3DNZ7|Q2V500|Q9UG51|Q9Y5R0	Missense_Mutation	SNP	ENST00000507656.1	37	CCDS43273.1	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.289615	0.01387	.	.	ENSG00000164162	ENST00000507656;ENST00000309439;ENST00000451299;ENST00000514390;ENST00000513054	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.69	4.49	0.54785	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.044787	0.85682	D	0.000000	T	0.39279	0.1072	N	0.02169	-0.655	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40776	-0.9545	10	0.02654	T	1	-9.1896	12.1032	0.53796	0.1289:0.0:0.0:0.8711	.	129	Q9UM13	APC10_HUMAN	E	129	ENSP00000423995:K129E;ENSP00000310071:K129E;ENSP00000403891:K129E;ENSP00000423043:K129E;ENSP00000421609:K129E	ENSP00000310071:K129E	K	-	1	0	ANAPC10	146136148	1.000000	0.71417	0.999000	0.59377	0.045000	0.14185	5.861000	0.69553	0.962000	0.38057	-0.481000	0.04817	AAG			0.383	ANAPC10-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365090.1		NM_014885		C	145916698	T	C	145916698	3	2	51	1	0	0	0	0	1	0	0	0	599	1763	61	4	176	4	ANAPC10	4	145916698	Missense_Mutation	SNP	T	TCGA-2G-AAHG-01A-11D-A42Y-10		145916698	45237578	7	3615											
HK3	3101	mdanderson.org	37	chr5	176308126	176308126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcggtgaccagggccGcacctttgccggacccatcc	8	5	11	17	3	0	1	0	1	0	0	1	2	1	2	6	3	3	1	6	3	1	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr5:176308126G>A	ENST00000292432.5	-	19	2811	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	907	Catalytic.|Hexokinase type-2 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)			GACCAGGGCCGCACCTTTGCC	0.662																																					p.A907V													HK3,NS,carcinoma,+1,1	HK3	1	1	0			c.C2720T												51	50	50					5																	176308126		2203	4300	6503	SO:0001583	missense	3101	exon19			AGGGCCGCACCTT		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.2720C>T	5.37:g.176308126G>A	ENSP00000292432:p.Ala907Val		66	0	0		38	0.08	3	NM_002115	1	0	0	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560395	0.65538	.	.	ENSG00000160883	ENST00000292432	D	0.99405	-5.84	5.22	5.22	0.72569	Hexokinase, C-terminal (1);	0.000000	0.49305	D	0.000149	D	0.99722	0.9892	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97363	0.9971	10	0.87932	D	0	-12.1194	17.5321	0.87817	0.0:0.0:1.0:0.0	.	907	P52790	HXK3_HUMAN	V	907	ENSP00000292432:A907V	ENSP00000292432:A907V	A	-	2	0	HK3	176240732	1.000000	0.71417	0.878000	0.34440	0.130000	0.20726	7.415000	0.80131	2.714000	0.92807	0.561000	0.74099	GCG			0.662	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253428.1				A	176308126	G	A	176308126	3	1	51	1	0	0	0	0	1	0	0	0	7207	1087	38	1	55	1	HK3	5	176308126	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		176308126	4607134	8	3616											
OR2Y1	134083	bcgsc.ca	37	chr5	180166235	180166235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtaattatagtataaaaaAgggcaacaaattttccctca	17	11	7	6	0	1	0	1	0	0	0	2	0	2	0	1	2	1	3	1	2	9	7			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr5:180166235A>G	ENST00000307832.2	-	1	864	c.824T>C	c.(823-825)cTt>cCt	p.L275P		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	275						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(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTATAAAAAAGGGCAACAAA	0.423																																					p.L275P													.	OR2Y1	49		0			c.T824C												85	98	94					5																	180166235		2203	4300	6503	SO:0001583	missense	134083	exon1			TAAAAAAGGGCAA	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.824T>C	5.37:g.180166235A>G	ENSP00000312403:p.Leu275Pro		71	0	0		48	0.08	4	NM_001001657	0		0	B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	a	13.90	2.373892	0.42105	.	.	ENSG00000174339	ENST00000307832	T	0.00188	8.59	4.41	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.187185	0.26153	N	0.026031	T	0.00637	0.0021	H	0.95611	3.695	0.09310	N	0.999995	D	0.89917	1.0	D	0.76575	0.988	T	0.37407	-0.9707	10	0.87932	D	0	.	5.0293	0.14402	0.7411:0.0:0.0965:0.1624	.	275	Q8NGV0	OR2Y1_HUMAN	P	275	ENSP00000312403:L275P	ENSP00000312403:L275P	L	-	2	0	OR2Y1	180098841	0.566000	0.26618	0.271000	0.24616	0.008000	0.06430	5.938000	0.70170	0.821000	0.34540	0.418000	0.28097	CTT			0.423	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368059.2		XM_068682		G	180166235	A	G	180166235	3	3	51	1	0	0	0	0	1	0	0	0	11052	72	3	4	115	4	OR2Y1	5	180166235	Missense_Mutation	SNP	A	TCGA-2G-AAHG-01A-11D-A42Y-10	3858109	180166235	749025	9	3617											
CYP21A2	1589	mdanderson.org	37	chr6	32008888	32008888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgggggatgggggccCacagcccgggccagagccag	7	1	18	15	2	0	1	0	0	0	1	0	2	0	2	6	5	3	0	6	5	0	0			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr6:32008888C>T	ENST00000418967.2	+	10	1623	c.1465C>T	c.(1465-1467)Cac>Tac	p.H489Y	CYP21A2_ENST00000435122.2_Missense_Mutation_p.H459Y	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	488					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	GATGGGGGCCCACAGCCCGGG	0.682																																					.	Melanoma(174;1669 1998 3915 34700 46447)												.	.			0			.												15	17	16					6																	32008888		1431	2616	4047	SO:0001583	missense	1589	.			GGGGCCCACAGCC	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1465C>T	6.37:g.32008888C>T	ENSP00000408860:p.His489Tyr		11	0	0		21	0.1	2	.	0		0	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	c	3.832	-0.035567	0.07497	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.71461	-0.46;-0.57	5.13	2.13	0.27403	.	3.007070	0.01180	N	0.007076	T	0.32436	0.0829	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.009;0.022	B;B	0.19666	0.018;0.026	T	0.32025	-0.9922	10	0.56958	D	0.05	.	6.4994	0.22160	0.0:0.5455:0.3569:0.0975	.	459;489	Q5ST44;Q16874	.;.	Y	489;459	ENSP00000408860:H489Y;ENSP00000415043:H459Y	ENSP00000408860:H489Y	H	+	1	0	CYP21A2	32116867	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.261000	0.18442	1.265000	0.44215	0.604000	0.83254	CAC			0.682	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268768.2		NM_000500		T	32008888	C	T	32008888	3	4	51	1	0	0	0	0	1	0	0	0	4155	594	21	3	3024	3	CYP21A2	6	32008888	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10		32008888	139106179	10	3618											
KIAA0776	23376	broad.mit.edu	37	chr6	96997435	96997435	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacattaggttatttgaaaaAgggatgaagttttttgcagg	14	14	11	2	0	0	2	0	2	0	0	0	3	0	3	0	3	2	3	0	3	6	6			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr6:96997435A>G	ENST00000369278.4	+	14	1734	c.1668A>G	c.(1666-1668)aaA>aaG	p.K556K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	556					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TATTTGAAAAAGGGATGAAGT	0.323																																					p.K556K													.	.			0			c.A1668G												56	56	56					6																	96997435		2203	4298	6501	SO:0001819	synonymous_variant	23376	exon14			TGAAAAAGGGATG	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1668A>G	6.37:g.96997435A>G			112	0	0		109	0.03	3	NM_015323	30	0	0	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	CCDS5034.1																																																																																					0.323	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041557.1		NM_015323		G	96997435	A	G	96997435	2	3	51	1	0	0	0	0	0	0	0	1	8208	69	3	4		4	KIAA0776	6	96997435	Silent	SNP	A	TCGA-2G-AAHG-01A-11D-A42Y-10	64988547	96997435	74117632	11	3619											
QKI	9444	mdanderson.org	37	chr6	163983060	163983060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgcagctgatggagcttgCgattctgaatggcacctaca	10	10	12	9	1	1	2	0	2	1	0	1	5	1	3	1	2	5	4	1	2	2	3			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr6:163983060C>T	ENST00000361752.3	+	5	1144	c.593C>T	c.(592-594)gCg>gTg	p.A198V	QKI_ENST00000453779.2_Missense_Mutation_p.A198V|QKI_ENST00000424802.3_Missense_Mutation_p.A198V|QKI_ENST00000275262.7_Missense_Mutation_p.A198V|QKI_ENST00000392127.2_Missense_Mutation_p.A198V|QKI_ENST00000361195.2_Missense_Mutation_p.A198V	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	198					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ATGGAGCTTGCGATTCTGAAT	0.443																																					p.A198V													.	.			0			c.C593T												114	107	110					6																	163983060		2203	4300	6503	SO:0001583	missense	9444	exon5			AGCTTGCGATTCT	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.593C>T	6.37:g.163983060C>T	ENSP00000355094:p.Ala198Val		54	0	0		46	0.07	3	NM_206855	180	0	0	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339594	0.81911	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000537041;ENST00000544823	T;T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.79475	2.455	0.58432	D	0.999999	P;P;D;D;P;P	0.89917	0.915;0.779;1.0;1.0;0.915;0.715	B;B;D;D;B;B	0.68039	0.092;0.063;0.955;0.955;0.069;0.069	T	0.18429	-1.0337	10	0.87932	D	0	.	19.6035	0.95573	0.0:1.0:0.0:0.0	.	198;198;198;198;198;198	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	V	198;198;198;198;198;198;143;143	ENSP00000408775:A198V;ENSP00000275262:A198V;ENSP00000375973:A198V;ENSP00000355094:A198V;ENSP00000354867:A198V;ENSP00000408382:A198V;ENSP00000440991:A143V;ENSP00000440599:A143V	ENSP00000275262:A198V	A	+	2	0	QKI	163903050	1.000000	0.71417	0.698000	0.30274	0.987000	0.75469	5.724000	0.68500	2.814000	0.96858	0.650000	0.86243	GCG			0.443	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043016.2		NM_006775		T	163983060	C	T	163983060	3	4	51	1	0	0	0	0	1	0	0	0	12896	768	27	1	611	1	QKI	6	163983060	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10	66985625	163983060	7132007	12	3620											
INTS1	26173	ucsc.edu	37	chr7	1519274	1519274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcgagggccacggggCggggactggagctctgccac	6	3	20	12	3	1	0	0	0	1	0	1	3	1	2	2	7	2	2	2	7	0	0			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr7:1519274C>T	ENST00000404767.3	-	31	4206	c.4121G>A	c.(4120-4122)cGc>cAc	p.R1374H	INTS1_ENST00000389470.4_Missense_Mutation_p.R1573H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1374					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)		GGCCACGGGGCGGGGACTGGA	0.716																																					p.R1374H													.	INTS1	145		0			c.G4121A												4	6	5					7																	1519274		1695	3501	5196	SO:0001583	missense	26173	exon31			ACGGGGCGGGGAC	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.4121G>A	7.37:g.1519274C>T	ENSP00000385722:p.Arg1374His		20	0	0		25	0.16	4	NM_001080453	53	0	0	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726940	0.69074	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.54279	0.71;0.58	5.14	4.26	0.50523	.	0.047916	0.85682	D	0.000000	T	0.60483	0.2272	M	0.67953	2.075	0.46185	D	0.99891	D	0.69078	0.997	P	0.51453	0.67	T	0.65030	-0.6267	10	0.59425	D	0.04	.	13.3749	0.60732	0.0:0.924:0.0:0.076	.	1374	Q8N201	INT1_HUMAN	H	1374;1573	ENSP00000385722:R1374H;ENSP00000374121:R1573H	ENSP00000374121:R1573H	R	-	2	0	INTS1	1485800	1.000000	0.71417	0.950000	0.38849	0.073000	0.16967	4.866000	0.63005	1.170000	0.42753	0.655000	0.94253	CGC			0.716	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323683.1				T	1519274	C	T	1519274	3	4	51	1	0	0	0	0	1	0	0	0	7790	768	27	1	2523	1	INTS1	7	1519274	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10		1519274	157619389	13	3621											
SNX8	29886	mdanderson.org	37	chr7	2304059	2304059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatcagctcccggctgatgGcaaactgagcctggatgtca	9	8	13	11	1	2	2	2	2	0	0	3	4	3	4	2	4	3	3	2	4	1	0			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr7:2304059G>A	ENST00000222990.3	-	6	698	c.656C>T	c.(655-657)gCc>gTc	p.A219V		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	219					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCGGCTGATGGCAAACTGAGC	0.587																																					p.A219V													SNX8,NS,carcinoma,+1,1	SNX8	1	1	0			c.C656T												61	58	59					7																	2304059		2203	4300	6503	SO:0001583	missense	29886	exon6			CTGATGGCAAACT	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.656C>T	7.37:g.2304059G>A	ENSP00000222990:p.Ala219Val		28	0	0		31	0.1	3	NM_013321	336	0	0	A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555613	0.65425	.	.	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286	.	.	.	5.04	5.04	0.67666	.	0.160205	0.43579	D	0.000553	T	0.60011	0.2236	L	0.48642	1.525	0.44061	D	0.996807	B	0.28439	0.212	B	0.32465	0.146	T	0.57940	-0.7724	9	0.35671	T	0.21	.	18.3921	0.90486	0.0:0.0:1.0:0.0	.	219	Q9Y5X2	SNX8_HUMAN	V	219;205;166	.	ENSP00000222990:A219V	A	-	2	0	SNX8	2270585	1.000000	0.71417	0.929000	0.37066	0.904000	0.53231	7.146000	0.77373	2.340000	0.79590	0.655000	0.94253	GCC			0.587	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322949.2				A	2304059	G	A	2304059	3	1	51	1	0	0	0	0	1	0	0	0	14931	1203	42	2	765	2	SNX8	7	2304059	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	784785	2304059	156834604	14	3622											
TNRC18	84629	mdanderson.org	37	chr7	5364801	5364801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagggagctggcgtgaggagCcctggcctcagagggcaagg	8	4	19	10	1	1	2	1	1	0	1	1	4	1	4	2	6	2	2	2	6	1	0			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr7:5364801C>T	ENST00000430969.1	-	20	6574	c.6226G>A	c.(6226-6228)Gct>Act	p.A2076T	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2076T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2076							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)		GCGTGAGGAGCCCTGGCCTCA	0.642																																					p.A2076T													.	.			0			c.G6226A												18	18	18					7																	5364801		1537	3503	5040	SO:0001583	missense	84629	exon20			GAGGAGCCCTGGC	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.6226G>A	7.37:g.5364801C>T	ENSP00000395538:p.Ala2076Thr		28	0	0		39	0.08	3	NM_001080495	49	0	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	.	12.25	1.881984	0.33255	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.13420	2.59;2.6	4.26	3.36	0.38483	.	1.911950	0.03391	N	0.201900	T	0.13200	0.0320	L	0.40543	1.245	0.09310	N	1	B	0.18310	0.027	B	0.14023	0.01	T	0.27606	-1.0069	10	0.17832	T	0.49	.	7.8166	0.29263	0.0:0.7324:0.0:0.2676	.	2076	O15417	TNC18_HUMAN	T	2076;2076;1131	ENSP00000382452:A2076T;ENSP00000395538:A2076T	ENSP00000382452:A2076T	A	-	1	0	TNRC18	5331327	0.996000	0.38824	0.993000	0.49108	0.551000	0.35334	1.593000	0.36686	1.933000	0.56026	0.290000	0.19541	GCT			0.642	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding						T	5364801	C	T	5364801	3	4	51	1	0	0	0	0	1	0	0	0	16362	739	26	2	2724	2	TNRC18	7	5364801	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10	3060742	5364801	153773862	15	3623											
KLRG2	346689	mdanderson.org	37	chr7	139168282	139168282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggttgtcgcaccttcGcgggcacctgcggctgctcc	3	10	12	16	4	1	0	1	0	0	0	4	0	2	0	3	3	2	5	3	3	0	3			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr7:139168282G>T	ENST00000340940.4	-	1	176	c.107C>A	c.(106-108)gCg>gAg	p.A36E	KLRG2_ENST00000393039.2_Missense_Mutation_p.A36E	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	36	Pro-rich.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					TCGCACCTTCGCGGGCACCTG	0.701																																					p.A36E													.	.			0			c.C107A												12	15	14					7																	139168282		1932	3970	5902	SO:0001583	missense	346689	exon1			ACCTTCGCGGGCA	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"Killer cell lectin-like receptors", "C-type lectin domain containing"	24778	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member B"						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.107C>A	7.37:g.139168282G>T	ENSP00000339356:p.Ala36Glu		22	0	0		30	0.1	3	NM_198508	288	0	0	Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	G	6.061	0.379666	0.11466	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.56776	3.36;0.44	3.16	1.16	0.20824	.	0.867806	0.09336	N	0.816224	T	0.33933	0.0880	N	0.17082	0.46	0.09310	N	1	B;B	0.17852	0.024;0.004	B;B	0.21151	0.033;0.014	T	0.25117	-1.0141	10	0.26408	T	0.33	-6.5321	7.2762	0.26286	0.0:0.1786:0.6356:0.1858	.	36;36	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	E	36	ENSP00000339356:A36E;ENSP00000376759:A36E	ENSP00000339356:A36E	A	-	2	0	KLRG2	138818822	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.089000	0.11180	-0.263000	0.09378	-2.386000	0.00229	GCG			0.701	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349433.1		NM_198508		T	139168282	G	T	139168282	3	4	51	1	0	0	0	0	1	0	0	0	8437	1087	38	1	1142	1	KLRG2	7	139168282	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	133803481	139168282	19970381	16	3624											
MLL3	58508	mdanderson.org	37	chr7	151945313	151945313	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcatttcagagtccatcaAtccagtagaaagttcagaat	15	11	7	8	0	4	3	4	0	0	3	6	3	6	3	2	0	0	2	2	0	4	3	rs372718879		TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr7:151945313A>G	ENST00000262189.6	-	14	2424	c.2206T>C	c.(2206-2208)Ttg>Ctg	p.L736L	KMT2C_ENST00000355193.2_Silent_p.L736L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	736					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)										GAGTCCATCAATCCAGTAGAA	0.373																																					p.L736L													.	.			0			c.T2206C												75	74	74					7																	151945313		2203	4300	6503	SO:0001819	synonymous_variant	58508	exon14			CCATCAATCCAGT	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.2206T>C	7.37:g.151945313A>G			111	0.009009009	1		166	0.08	14	NM_170606	29	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																					0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3				G	151945313	A	G	151945313	2	3	51	1	0	0	0	0	0	0	0	1	9638	98	4	4		4	MLL3	7	151945313	Silent	SNP	A	TCGA-2G-AAHG-01A-11D-A42Y-10	12777031	151945313	7193350	17	3625											
FGF20	26281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	16853180	16853180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtactgatccatagagttctCctttgtcattcattccaaga	10	15	6	10	0	3	3	2	1	1	2	6	3	5	3	3	0	1	2	3	0	3	6			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr8:16853180C>T	ENST00000180166.5	-	2	522	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	125					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)		p.G125E(1)		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)		ATAGAGTTCTCCTTTGTCATT	0.318																																					p.G125E													FGF20,leg,malignant_melanoma,0,1	FGF20	0	1	1	Substitution - Missense(1)	skin(1)	c.G374A												105	98	100					8																	16853180		2203	4300	6503	SO:0001583	missense	26281	exon2			AGTTCTCCTTTGT	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.374G>A	8.37:g.16853180C>T	ENSP00000180166:p.Gly125Glu		82	0	0		143	0.24	35	NM_019851	0		0	B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937811	0.92458	.	.	ENSG00000078579	ENST00000180166	D	0.92545	-3.06	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98278	1.0507	10	0.87932	D	0	.	20.2886	0.98538	0.0:1.0:0.0:0.0	.	125	Q9NP95	FGF20_HUMAN	E	125	ENSP00000180166:G125E	ENSP00000180166:G125E	G	-	2	0	FGF20	16897551	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GGA			0.318	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214030.1				T	16853180	C	T	16853180	3	4	51	1	0	0	0	0	1	0	0	0	5862	855	30	3	269	3	FGF20	8	16853180	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10		16853180	129510842	18	3626											
DUSP4	1846	mdanderson.org	37	chr8	29207485	29207485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtcgtagacgatgaccGccgagtagaggccggagcgc	8	5	16	12	7	0	3	0	1	0	2	2	6	0	4	3	2	1	3	3	2	2	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr8:29207485G>A	ENST00000240100.2	-	1	700	c.311C>T	c.(310-312)gCg>gTg	p.A104V	DUSP4_ENST00000240101.2_5'Flank|RP4-676L2.1_ENST00000567818.1_RNA	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	104	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|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)|protein dephosphorylation (GO:0006470)|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)	nucleoplasm (GO:0005654)|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)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GACGATGACCGCCGAGTAGAG	0.731																																					p.A104V													.	.			0			c.C311T												7	8	8					8																	29207485		2131	4188	6319	SO:0001583	missense	1846	exon1			ATGACCGCCGAGT	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.311C>T	8.37:g.29207485G>A	ENSP00000240100:p.Ala104Val		22	0	0		39	0.08	3	NM_001394	0		0	B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538945	0.96474	.	.	ENSG00000120875	ENST00000240100	T	0.25579	1.79	3.89	3.89	0.44902	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	P	0.54499	0.754	T	0.16958	-1.0385	10	0.42905	T	0.14	.	14.1674	0.65486	0.0:0.0:1.0:0.0	.	104	Q13115	DUS4_HUMAN	V	104	ENSP00000240100:A104V	ENSP00000240100:A104V	A	-	2	0	DUSP4	29263404	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	5.851000	0.69481	2.467000	0.83353	0.491000	0.48974	GCG			0.731	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257249.1		NM_001394		A	29207485	G	A	29207485	3	1	51	1	0	0	0	0	1	0	0	0	4832	1087	38	1	1053	1	DUSP4	8	29207485	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	12354305	29207485	117156537	19	3627											
DOCK8	81704	mdanderson.org	37	chr9	396818	396818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagcacgtacataacatgGacaaacgggacagttttcgg	13	7	10	11	3	0	0	0	0	0	0	1	2	0	2	1	3	4	3	1	3	3	4			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr9:396818G>T	ENST00000453981.1	+	25	3116	c.3004G>T	c.(3004-3006)Gac>Tac	p.D1002Y	DOCK8_ENST00000432829.2_Missense_Mutation_p.D934Y|DOCK8_ENST00000382329.1_Missense_Mutation_p.D469Y|DOCK8_ENST00000469391.1_Missense_Mutation_p.D902Y|DOCK8_ENST00000382331.1_Missense_Mutation_p.D304Y			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1002					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACATAACATGGACAAACGGGA	0.468																																					p.D1002Y													.	.			0			c.G3004T												200	186	191					9																	396818		2203	4300	6503	SO:0001583	missense	81704	exon25			AACATGGACAAAC	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3004G>T	9.37:g.396818G>T	ENSP00000408464:p.Asp1002Tyr		114	0	0		74	0.05	4	NM_203447	14	0	0	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048042	0.93740	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.7	5.7	0.88788	.	0.095697	0.64402	D	0.000001	T	0.52025	0.1709	M	0.68593	2.085	0.80722	D	1	D;P;P;P	0.89917	1.0;0.881;0.881;0.881	D;P;P;P	0.74023	0.982;0.615;0.615;0.615	T	0.48468	-0.9033	10	0.56958	D	0.05	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	304;902;469;1002	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	Y	1002;970;934;902;304;469	ENSP00000408464:D1002Y;ENSP00000394888:D934Y;ENSP00000419438:D902Y;ENSP00000371768:D304Y;ENSP00000371766:D469Y	ENSP00000287364:D970Y	D	+	1	0	DOCK8	386818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.796000	0.85898	2.683000	0.91414	0.655000	0.94253	GAC			0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000171792.5		XM_036307		T	396818	G	T	396818	3	4	51	1	0	0	0	0	1	0	0	0	4698	1174	41	3	3102	3	DOCK8	9	396818	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		396818	140816613	20	3628											
WNK2	65268	bcgsc.ca	37	chr9	95947703	95947703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgaggcgaagcctgaGcccgggcgcactcgccggga	6	2	18	15	7	0	1	0	1	0	0	1	4	0	2	4	4	2	1	4	4	1	0	rs369083880		TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr9:95947703G>T	ENST00000297954.4	+	1	492	c.492G>T	c.(490-492)gaG>gaT	p.E164D	WNK2_ENST00000395475.2_Missense_Mutation_p.E150D|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.E164D	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	164					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						CGAAGCCTGAGCCCGGGCGCA	0.731																																					p.E164D													.	WNK2	277		0			c.G492T												14	17	16					9																	95947703		2193	4290	6483	SO:0001583	missense	65268	exon1			GCCTGAGCCCGGG	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.492G>T	9.37:g.95947703G>T	ENSP00000297954:p.Glu164Asp		38	0	0		44	0.09	4	NM_006648	23	0	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.895|9.895	1.205284|1.205284	0.22205|0.22205	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475|ENST00000432730	T;T;T;T|.	0.71817|.	-0.6;-0.5;-0.5;-0.59|.	4.24|4.24	1.03|1.03	0.20045|0.20045	.|.	0.734363|.	0.11667|.	N|.	0.541269|.	T|T	0.21227|0.21227	0.0511|0.0511	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.999986|0.999986	B;B;B;B|.	0.13594|.	0.002;0.008;0.002;0.001|.	B;B;B;B|.	0.11329|.	0.004;0.006;0.004;0.002|.	T|T	0.07966|0.07966	-1.0745|-1.0745	10|5	0.33940|.	T|.	0.23|.	.|.	0.7654|0.7654	0.01014|0.01014	0.1799:0.2285:0.3583:0.2333|0.1799:0.2285:0.3583:0.2333	.|.	164;164;164;164|.	Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	D|I	164;164;164;150|160	ENSP00000412465:E164D;ENSP00000297954:E164D;ENSP00000378860:E164D;ENSP00000378858:E150D|.	ENSP00000297954:E164D|.	E|S	+|+	3|2	2|0	WNK2|WNK2	94987524|94987524	.|.	.|.	0.240000|0.240000	0.24138|0.24138	0.073000|0.073000	0.16967|0.16967	.|.	.|.	0.876000|0.876000	0.35872|0.35872	0.561000|0.561000	0.74099|0.74099	GAG|AGC			0.731	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000317359.1		NM_006648		T	95947703	G	T	95947703	3	4	51	1	0	0	0	0	1	0	0	0	17402	962	34	2	494	2	WNK2	9	95947703	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	95550885	95947703	45265728	21	3629											
CCDC3	83643	mdanderson.org	37	chr10	13043391	13043391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtactgccagggcaggtgGttgtagaggccgggcgcctc	5	8	18	10	2	0	1	0	0	0	1	1	1	0	1	3	6	2	4	3	6	2	3			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr10:13043391G>T	ENST00000378825.3	-	1	306	c.180C>A	c.(178-180)aaC>aaA	p.N60K	CCDC3_ENST00000378839.1_Intron	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	60						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			AGGGCAGGTGGTTGTAGAGGC	0.716																																					p.N60K													.	.			0			c.C180A												7	9	8					10																	13043391		2143	4242	6385	SO:0001583	missense	83643	exon1			CAGGTGGTTGTAG	BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.180C>A	10.37:g.13043391G>T	ENSP00000368102:p.Asn60Lys		42	0	0		48	0.06	3	NM_031455	10	0	0	Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	37	CCDS7093.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276323	0.80580	.	.	ENSG00000151468	ENST00000378825	.	.	.	4.55	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	M	0.74258	2.255	0.45150	D	0.998161	D	0.71674	0.998	D	0.80764	0.994	T	0.72571	-0.4253	9	0.72032	D	0.01	-8.3613	8.7305	0.34496	0.1882:0.0:0.8118:0.0	.	60	Q9BQI4	CCDC3_HUMAN	K	60	.	ENSP00000368102:N60K	N	-	3	2	CCDC3	13083397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.857000	0.69525	0.895000	0.36342	0.561000	0.74099	AAC			0.716	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046829.1		NM_031455		T	13043391	G	T	13043391	3	4	51	1	0	0	0	0	1	0	0	0	2806	1252	44	3	644	3	CCDC3	10	13043391	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		13043391	122491356	22	3630											
PDE3B	5140	mdanderson.org	37	chr11	14666437	14666437	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcaaatcagggaagcGcctcttcatcctcgactgtc	8	13	7	13	2	5	0	3	0	2	0	8	2	6	1	2	1	1	0	2	1	2	3			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr11:14666437G>T	ENST00000282096.4	+	1	1169	c.816G>T	c.(814-816)gcG>gcT	p.A272A	PDE3B_ENST00000534317.1_3'UTR|PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Silent_p.A272A	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	272					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TCAGGGAAGCGCCTCTTCATC	0.642																																					p.A272A													.	.			0			c.G816T												39	44	42					11																	14666437		2200	4294	6494	SO:0001819	synonymous_variant	5140	exon1			GGAAGCGCCTCTT	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.816G>T	11.37:g.14666437G>T			84	0	0		44	0.07	3	NM_000922	18	0.06	1	B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	CCDS7817.1																																																																																					0.642	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000386974.1		NM_000922		T	14666437	G	T	14666437	2	4	51	1	0	0	0	0	0	0	0	1	11655	1074	38	1		1	PDE3B	11	14666437	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		14666437	120340079	23	3631											
MYBPC3	4607	mdanderson.org	37	chr11	47372906	47372906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtatgccgtgtgccctctGtggccaggccgtacttgttg	3	12	14	12	3	1	0	0	0	1	0	1	0	1	0	4	2	3	3	4	2	2	4			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr11:47372906G>A	ENST00000545968.1	-	2	230	c.176C>T	c.(175-177)aCa>aTa	p.T59I	MYBPC3_ENST00000399249.2_Missense_Mutation_p.T59I|MYBPC3_ENST00000256993.4_Missense_Mutation_p.T59I	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	59			T -> A (in CMH4). {ECO:0000269|PubMed:11815426}.		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)		TGTGCCCTCTGTGGCCAGGCC	0.642																																					p.T59I													.	.			0			c.C176T												40	44	43					11																	47372906		2196	4287	6483	SO:0001583	missense	4607	exon2			CCCTCTGTGGCCA	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.176C>T	11.37:g.47372906G>A	ENSP00000442795:p.Thr59Ile		69	0	0		52	0.06	3	NM_000256	0		0	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632764	0.29068	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.67171	-0.25;-0.25;-0.25	4.27	4.27	0.50696	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52108	0.1714	N	0.12182	0.205	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.49476	-0.8936	9	0.52906	T	0.07	.	16.8841	0.86071	0.0:0.0:1.0:0.0	.	59	Q14896	MYPC3_HUMAN	I	59	ENSP00000442795:T59I;ENSP00000382193:T59I;ENSP00000256993:T59I	ENSP00000256993:T59I	T	-	2	0	MYBPC3	47329482	0.945000	0.32115	0.151000	0.22473	0.007000	0.05969	5.273000	0.65564	2.218000	0.71995	0.467000	0.42956	ACA			0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000392271.3				A	47372906	G	A	47372906	3	1	51	1	0	0	0	0	1	0	0	0	10029	1377	48	3	3773	3	MYBPC3	11	47372906	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	32706469	47372906	87633610	24	3632											
LRP5	4041	broad.mit.edu	37	chr11	68207377	68207377	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcacgaaggccacgctgtAcccgccggtgaggggcgggg	7	3	18	13	5	0	1	0	1	0	0	0	2	0	1	3	6	2	3	3	6	2	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr11:68207377A>C	ENST00000294304.7	+	21	4587	c.4481A>C	c.(4480-4482)tAc>tCc	p.Y1494S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1494					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						GCCACGCTGTACCCGCCGGTG	0.751																																					p.Y1494S													.	LRP5	136		0			c.A4481C												4	6	5					11																	68207377		2076	4081	6157	SO:0001583	missense	4041	exon21			CGCTGTACCCGCC	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.4481A>C	11.37:g.68207377A>C	ENSP00000294304:p.Tyr1494Ser		30	0.4666666667	14		11	0.45	5	NM_002335	26	0.04	1	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.04|15.04	2.714453|2.714453	0.48622|0.48622	.|.	.|.	ENSG00000162337|ENSG00000162337	ENST00000529702|ENST00000294304	.|D	.|0.95482	.|-3.72	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.44902	.|U	.|0.000407	D|D	0.94518|0.94518	0.8235|0.8235	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B	.|0.12630	.|0.006;0.006	.|B;B	.|0.13407	.|0.009;0.009	D|D	0.92927|0.92927	0.6360|0.6360	5|10	.|0.59425	.|D	.|0.04	.|.	14.4923|14.4923	0.67660|0.67660	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1494;1494	.|Q9UES7;O75197	.|.;LRP5_HUMAN	P|S	13|1494	.|ENSP00000294304:Y1494S	.|ENSP00000294304:Y1494S	T|Y	+|+	1|2	0|0	LRP5|LRP5	67963953|67963953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.850000|0.850000	0.48378|0.48378	2.823000|2.823000	0.48081|0.48081	2.032000|2.032000	0.59987|0.59987	0.454000|0.454000	0.30748|0.30748	ACC|TAC			0.751	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395088.1		NM_002335		C	68207377	A	C	68207377	3	2	51	1	0	0	0	0	1	0	0	0	8976	391	14	4	4563	4	LRP5	11	68207377	Missense_Mutation	SNP	A	TCGA-2G-AAHG-01A-11D-A42Y-10	20834471	68207377	66799139	25	3633											
SHANK2	22941	ucsc.edu	37	chr11	70653168	70653168	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggggttggtatggcttGacagcgacgaagagcctccc	8	9	14	10	2	0	2	0	1	0	1	1	4	1	2	2	4	2	3	2	4	2	4			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr11:70653168G>T	ENST00000423696.2	-	3	501	c.465C>A	c.(463-465)gtC>gtA	p.V155V	SHANK2_ENST00000468619.1_5'UTR|SHANK2_ENST00000338508.4_Silent_p.V535V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	155	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			GGTATGGCTTGACAGCGACGA	0.622																																					.													.	SHANK2	340		0			.												52	70	64					11																	70653168		692	1591	2283	SO:0001819	synonymous_variant	22941	.			TGGCTTGACAGCG	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.465C>A	11.37:g.70653168G>T			120	0.05	6		66	0.17	11	.	0		0	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Nonsense_Mutation	SNP	ENST00000423696.2	37																																																																																						0.622	SHANK2-203	KNOWN	basic	protein_coding	protein_coding				NM_012309		T	70653168	G	T	70653168	2	4	51	1	0	0	0	0	0	0	0	1	14288	1277	45	3		3	SHANK2	11	70653168	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	2445791	70653168	64353348	26	3634											
ODZ4	26011	mdanderson.org	37	chr11	78565254	78565254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgaagcctgtctcatGgctggaggggggcacagttc	7	9	16	9	0	1	1	1	1	1	0	3	3	1	3	1	6	1	3	1	6	1	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr11:78565254G>T	ENST00000278550.7	-	12	2038	c.1576C>A	c.(1576-1578)Cat>Aat	p.H526N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	526					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)										CCTGTCTCATGGCTGGAGGGG	0.572																																					p.H526N													.	.			0			c.C1576A												29	32	31					11																	78565254		692	1591	2283	SO:0001583	missense	26011	exon12			TCTCATGGCTGGA	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.1576C>A	11.37:g.78565254G>T	ENSP00000278550:p.His526Asn		37	0	0		19	0.11	2	NM_001098816	8	0	0	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340519	0.60963	.	.	ENSG00000149256	ENST00000278550	T	0.21361	2.01	5.07	5.07	0.68467	.	0.052456	0.85682	D	0.000000	T	0.32793	0.0841	N	0.25201	0.72	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.03728	-1.1009	9	.	.	.	.	18.6486	0.91421	0.0:0.0:1.0:0.0	.	526	Q6N022	TEN4_HUMAN	N	526	ENSP00000278550:H526N	.	H	-	1	0	ODZ4	78242902	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	9.411000	0.97342	2.631000	0.89168	0.561000	0.74099	CAT			0.572	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391406.2				T	78565254	G	T	78565254	3	4	51	1	0	0	0	0	1	0	0	0	10854	1348	47	3	6825	3	ODZ4	11	78565254	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	7912086	78565254	56441262	27	3635											
GRM5	2915	mdanderson.org	37	chr11	88300321	88300321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcccctacatgcatgcGcaccacggtagatgtggtga	9	8	11	13	2	0	2	0	1	0	1	1	2	1	2	4	2	3	3	4	2	2	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr11:88300321G>T	ENST00000305447.4	-	7	2679	c.2530C>A	c.(2530-2532)Cgc>Agc	p.R844S	GRM5_ENST00000418177.2_Missense_Mutation_p.R844S|GRM5_ENST00000455756.2_Missense_Mutation_p.R844S|GRM5_ENST00000305432.5_Missense_Mutation_p.R844S|GRM5_ENST00000393297.1_Missense_Mutation_p.R844S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	844					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R844S(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACATGCATGCGCACCACGGTA	0.572																																					p.R844S													GRM5_ENST00000418177,NS,carcinoma,0,2	GRM5_ENST00000418177	0	2	2	Substitution - Missense(2)	lung(2)	c.C2530A												126	101	110					11																	88300321		2201	4299	6500	SO:0001583	missense	2915	exon8			GCATGCGCACCAC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2530C>A	11.37:g.88300321G>T	ENSP00000306138:p.Arg844Ser		80	0	0		37	0.08	3	NM_000842	0		0	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124026	0.77436	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88586	-2.39;-2.36;-2.36;-2.39;-2.4	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	M	0.65975	2.015	0.54753	D	0.999984	D;D	0.71674	0.998;0.997	D;P	0.80764	0.994;0.866	D	0.92802	0.6257	9	.	.	.	.	19.8631	0.96790	0.0:0.0:1.0:0.0	.	844;844	P41594-2;P41594	.;GRM5_HUMAN	S	844	ENSP00000402912:R844S;ENSP00000405690:R844S;ENSP00000305905:R844S;ENSP00000306138:R844S;ENSP00000376975:R844S	.	R	-	1	0	GRM5	87939969	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.973000	0.88032	2.709000	0.92574	0.655000	0.94253	CGC			0.572	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000259226.1		NM_000842		T	88300321	G	T	88300321	3	4	51	1	0	0	0	0	1	0	0	0	6815	1087	38	1	1120	1	GRM5	11	88300321	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	9735067	88300321	46706195	28	3636											
FAM60A	58516	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	31440707	31440707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacttgaggtggtactgtGagcatcagaatctgcaataa	12	10	12	7	0	2	3	1	2	1	1	2	3	2	3	0	3	3	4	0	3	4	3			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr12:31440707G>A	ENST00000337682.4	-	5	735	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000454658.2_Missense_Mutation_p.H123Y|FAM60A_ENST00000542983.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	123					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)					GTGGTACTGTGAGCATCAGAA	0.393																																					p.H123Y													.	.			0			c.C367T												69	65	66					12																	31440707		2203	4300	6503	SO:0001583	missense	58516	exon6			TACTGTGAGCATC	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.367C>T	12.37:g.31440707G>A	ENSP00000337477:p.His123Tyr		47	0	0		101	0.14	14	NM_021238	670	0.17	114	D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813128	0.50527	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.83	4.83	0.62350	.	0.090945	0.85682	D	0.000000	T	0.32436	0.0829	L	0.27053	0.805	0.80722	D	1	B;B	0.14012	0.0;0.009	B;B	0.11329	0.001;0.006	T	0.07966	-1.0745	10	0.19590	T	0.45	-1.3194	18.2825	0.90103	0.0:0.0:1.0:0.0	.	123;164	Q9NP50;B7Z287	FA60A_HUMAN;.	Y	123;123;164;123;123	ENSP00000337477:H123Y;ENSP00000393279:H123Y;ENSP00000443881:H123Y;ENSP00000437363:H123Y	ENSP00000337477:H123Y	H	-	1	0	FAM60A	31331974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.446000	0.80609	2.405000	0.81733	0.491000	0.48974	CAC			0.393	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400347.1		NM_021238		A	31440707	G	A	31440707	3	1	51	1	0	0	0	0	1	0	0	0	5608	1290	45	3	306	3	FAM60A	12	31440707	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		31440707	102411188	29	3637											
ATF7	11016	mdanderson.org	37	chr12	53918523	53918523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcgccccccagtactaGgggtgggctgagctggtgag	5	7	17	12	2	0	2	0	2	0	0	1	2	0	2	4	4	2	3	4	4	2	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr12:53918523G>T	ENST00000548446.2	-	10	1095	c.983C>A	c.(982-984)cCt>cAt	p.P328H	ATF7_ENST00000328463.7_Missense_Mutation_p.P328H|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.P317H|ATF7_ENST00000415113.1_Missense_Mutation_p.P296H|ATF7_ENST00000420353.2_Missense_Mutation_p.P317H|ATF7_ENST00000456903.4_Missense_Mutation_p.P317H|ATF7_ENST00000546661.1_5'UTR			P17544	ATF7_HUMAN	activating transcription factor 7	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CCCAGTACTAGGGGTGGGCTG	0.587																																					p.P317H													.	.			0			c.C950A												13	15	14					12																	53918523		1928	4141	6069	SO:0001583	missense	11016	exon10			GTACTAGGGGTGG	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.983C>A	12.37:g.53918523G>T	ENSP00000449938:p.Pro328His		27	0	0		22	0.09	2	NM_006856	25	0	0	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.135561	0.77662	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.53423	0.62;0.62;0.67;0.64;0.64	5.32	5.32	0.75619	.	0.107070	0.64402	D	0.000003	T	0.65739	0.2720	L	0.54323	1.7	0.44129	D	0.996915	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.99;0.981	T	0.64457	-0.6403	10	0.56958	D	0.05	-16.0389	18.3142	0.90213	0.0:0.0:1.0:0.0	.	296;317;328	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	H	328;328;141;296;317;317	ENSP00000449938:P328H;ENSP00000329212:P328H;ENSP00000404880:P296H;ENSP00000399465:P317H;ENSP00000387406:P317H	ENSP00000304187:P141H	P	-	2	0	ATF7	52204790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.502000	0.73695	2.941000	0.99782	0.655000	0.94253	CCT			0.587	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000406302.2		NM_001130059		T	53918523	G	T	53918523	3	4	51	1	0	0	0	0	1	0	0	0	1086	1000	35	3	513	3	ATF7	12	53918523	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	22477816	53918523	79933372	30	3638											
CCDC64	92558	mdanderson.org	37	chr12	120518734	120518734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgccctaaaagaggagaGagaccgactcagagtcactt	14	6	11	10	1	2	4	2	0	0	4	2	8	2	4	2	1	1	0	2	1	2	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr12:120518734G>T	ENST00000397558.2	+	7	1352	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	CCDC64_ENST00000257583.4_Missense_Mutation_p.R148I|CCDC64_ENST00000446727.2_Missense_Mutation_p.R122I	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	451					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAGAGGAGAGAGACCGACTC	0.527																																					p.R451I													.	.			0			c.G1352T												73	79	77					12																	120518734		2051	4193	6244	SO:0001583	missense	92558	exon7			AGGAGAGAGACCG	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1352G>T	12.37:g.120518734G>T	ENSP00000380690:p.Arg451Ile		30	0	0		45	0.09	4	NM_207311	29	0	0	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449920	0.84101	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T;T	0.04862	3.54;3.58;3.56	5.32	4.42	0.53409	.	1.114610	0.06460	N	0.729305	T	0.21841	0.0526	L	0.58810	1.83	0.51233	D	0.999915	D;D;D	0.71674	0.998;0.998;0.985	P;P;P	0.62014	0.897;0.862;0.748	T	0.00250	-1.1878	10	0.62326	D	0.03	-4.3734	13.3627	0.60665	0.0756:0.0:0.9244:0.0	.	148;122;451	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	I	451;122;169;148	ENSP00000380690:R451I;ENSP00000399658:R122I;ENSP00000447477:R169I	ENSP00000257583:R148I	R	+	2	0	CCDC64	119003117	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.996000	0.63914	2.492000	0.84095	0.561000	0.74099	AGA			0.527	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000403390.2		NM_207311		T	120518734	G	T	120518734	3	4	51	1	0	0	0	0	1	0	0	0	2837	942	33	3	1378	3	CCDC64	12	120518734	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	66600211	120518734	13333161	31	3639											
RPLP0	6175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	120637138	120637138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgggttgttttccaGgtgccctcggatggccttgc	4	12	14	11	1	0	1	0	0	0	1	2	2	1	2	3	4	3	3	3	4	0	4			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr12:120637138G>A	ENST00000551150.1	-	2	520	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	RPLP0_ENST00000552292.1_5'Flank|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Silent_p.L69L|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000313104.5_Silent_p.L69L|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000546989.1_Silent_p.L69L|RPLP0_ENST00000228306.4_Silent_p.L69L			P05388	RLA0_HUMAN	ribosomal protein, large, P0	69					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)|ribosome biogenesis (GO:0042254)|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)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGTTTTCCAGGTGCCCTCGG	0.582																																					p.L69L													.	.			0			c.C205T												115	115	115					12																	120637138		2203	4300	6503	SO:0001819	synonymous_variant	6175	exon3			TTTCCAGGTGCCC	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.205C>T	12.37:g.120637138G>A			86	0	0		101	0.2	20	NM_053275	42352	0.29	12145	Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	CCDS9193.1																																																																																					0.582	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403448.3		NM_053275		A	120637138	G	A	120637138	2	1	51	1	0	0	0	0	0	0	0	1	13627	991	35	3		3	RPLP0	12	120637138	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	118404	120637138	13214757	32	3640											
SACS	26278	broad.mit.edu	37	chr13	23907043	23907043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaattccgcgggggcccGctcaggacataagaatggta	12	7	13	9	3	1	2	1	1	0	1	2	3	2	3	2	4	0	2	2	4	5	3	rs115155117	byFrequency	TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr13:23907043G>A	ENST00000382292.3	-	9	11245	c.10972C>T	c.(10972-10974)Cgg>Tgg	p.R3658W	SACS_ENST00000382298.3_Missense_Mutation_p.R3658W|SACS_ENST00000402364.1_Missense_Mutation_p.R2908W			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3658					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)		GCGGGGGCCCGCTCAGGACAT	0.363													G|||	4	0.000798722	0.003	0	5008	,	,		18665	0		0	False		,,,				2504	0				p.R3658W													.	SACS	871		0			c.C10972T							G	TRP/ARG	8,4398	12.9+/-30.5	0,8,2195	43	50	47		10972	2.2	1	13	dbSNP_132	47	2,8594	2.2+/-6.3	0,2,4296	yes	missense	SACS	NM_014363.4	101	0,10,6491	AA,AG,GG		0.0233,0.1816,0.0769	probably-damaging	3658/4580	23907043	10,12992	2203	4298	6501	SO:0001583	missense	26278	exon10			GGGCCCGCTCAGG	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.10972C>T	13.37:g.23907043G>A	ENSP00000371729:p.Arg3658Trp		56	0	0		68	0.04	3	NM_014363	19	0	0	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.06	2.722613	0.48728	0.001816	2.33E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87966	-2.17;-2.32;-2.17	6.04	2.21	0.28008	.	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	L	0.29908	0.895	0.38654	D	0.951902	D	0.89917	1.0	D	0.87578	0.998	D	0.89770	0.3953	10	0.66056	D	0.02	.	17.1259	0.86714	0.0:0.0:0.3389:0.6611	.	3658	Q9NZJ4	SACS_HUMAN	W	3658;2908;3658	ENSP00000371729:R3658W;ENSP00000385844:R2908W;ENSP00000371735:R3658W	ENSP00000371729:R3658W	R	-	1	2	SACS	22805043	0.998000	0.40836	0.991000	0.47740	0.869000	0.49853	0.797000	0.26999	0.094000	0.17404	-0.309000	0.09137	CGG			0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044148.3		NM_014363		A	23907043	G	A	23907043	3	1	51	1	0	0	0	0	1	0	0	0	13827	1086	38	1	2771	1	SACS	13	23907043	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		23907043	91262835	33	3641											
SLC25A15	10166	mdanderson.org	37	chr13	41373332	41373332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccgtggcttctacaaGggtaccagtccagcactaat	9	10	10	12	1	1	0	0	0	1	0	3	0	3	0	3	3	3	4	3	3	4	5			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr13:41373332G>T	ENST00000338625.4	+	3	431	c.195G>T	c.(193-195)aaG>aaT	p.K65N	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	65					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		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;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	GCTTCTACAAGGGTACCAGTC	0.562																																					p.K65N													.	.			0			c.G195T												146	132	137					13																	41373332		2203	4300	6503	SO:0001583	missense	10166	exon3			CTACAAGGGTACC	AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"Solute carriers"	10985	protein-coding gene	gene with protein product	"ornithine transporter 1"	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.195G>T	13.37:g.41373332G>T	ENSP00000342267:p.Lys65Asn		172	0	0		142	0.04	5	NM_014252	34	0	0	Q5VZD8|Q9HC45	Missense_Mutation	SNP	ENST00000338625.4	37	CCDS9373.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396172	0.42512	.	.	ENSG00000102743	ENST00000338625;ENST00000379523;ENST00000417731	D;D	0.81821	-1.54;-1.54	4.67	2.94	0.34122	Mitochondrial carrier domain (2);	0.156761	0.56097	D	0.000023	D	0.87466	0.6184	M	0.91663	3.23	0.42614	D	0.993322	P	0.46064	0.872	P	0.51742	0.678	D	0.87396	0.2366	10	0.72032	D	0.01	.	10.1411	0.42736	0.1635:0.0:0.8365:0.0	.	65	Q9Y619	ORNT1_HUMAN	N	65	ENSP00000342267:K65N;ENSP00000415826:K65N	ENSP00000342267:K65N	K	+	3	2	SLC25A15	40271332	1.000000	0.71417	0.995000	0.50966	0.538000	0.34931	1.833000	0.39161	0.399000	0.25367	-0.122000	0.15005	AAG			0.562	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276149.2		NM_014252		T	41373332	G	T	41373332	3	4	51	1	0	0	0	0	1	0	0	0	14500	991	35	3	201	3	SLC25A15	13	41373332	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	17466289	41373332	73796546	34	3642											
ZC3H13	23091	mdanderson.org	37	chr13	46562935	46562935	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacaccttccctcctttcAtggcgtcgatcatgagactg	8	12	7	14	2	2	1	2	1	0	1	5	3	4	1	3	1	1	0	3	1	1	3	rs386770641|rs1134071	byFrequency	TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr13:46562935A>T	ENST00000242848.4	-	9	1590	c.1242T>A	c.(1240-1242)caT>caA	p.H414Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.H414Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	414	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)		CCCTCCTTTCATGGCGTCGAT	0.418																																					p.H414Q	Esophageal Squamous(187;747 2077 11056 31291 44172)												.	.			0			c.T1242A												131	112	119					13																	46562935		2203	4300	6503	SO:0001583	missense	23091	exon9			CCTTTCATGGCGT	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.1242T>A	13.37:g.46562935A>T	ENSP00000242848:p.His414Gln		85	0	0		62	0.03	2	NM_015070	82	0	0	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	A	11.71	1.719998	0.30503	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.32023	2.48;1.47	5.81	1.84	0.25277	.	0.000000	0.64402	D	0.000004	T	0.32071	0.0817	N	0.24115	0.695	0.09310	P	1.0	D;D	0.76494	0.998;0.999	P;D	0.66351	0.878;0.943	T	0.31971	-0.9924	9	0.16420	T	0.52	.	9.8682	0.41157	0.6557:0.0:0.3443:0.0	.	414;414	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	414;414;230	ENSP00000242848:H414Q;ENSP00000282007:H414Q	ENSP00000242848:H414Q	H	-	3	2	ZC3H13	45460936	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.453000	0.21811	0.419000	0.25927	0.533000	0.62120	CAT			0.418	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000044789.1		NM_015070		T	46562935	A	T	46562935	3	4	51	1	0	0	0	0	1	0	0	0	17588	214	8	5	3488	5	ZC3H13	13	46562935	Missense_Mutation	SNP	A	TCGA-2G-AAHG-01A-11D-A42Y-10	5189603	46562935	68606943	35	3643											
ATP5S	27109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	50789405	50789405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgatcgacgccaccgactCttgtatcatgagcattggat	9	10	11	11	4	2	1	1	1	1	0	3	5	2	2	2	2	1	2	2	2	1	3			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr14:50789405C>T	ENST00000311459.7	+	3	709	c.329C>T	c.(328-330)tCt>tTt	p.S110F	ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000245448.6_Missense_Mutation_p.S110F|ATP5S_ENST00000426751.2_Missense_Mutation_p.S110F|ATP5S_ENST00000358473.1_Missense_Mutation_p.S82F	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	110					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		GCCACCGACTCTTGTATCATG	0.473																																					p.S110F													.	.			0			c.C329T												125	107	113					14																	50789405		2203	4300	6503	SO:0001583	missense	27109	exon3			CCGACTCTTGTAT	U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.329C>T	14.37:g.50789405C>T	ENSP00000308334:p.Ser110Phe		122	0	0		132	0.23	30	NM_015684	59	0.37	22	A8K1U3|D9N156|Q8WWX3|Q96F77	Missense_Mutation	SNP	ENST00000311459.7	37	CCDS32075.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109952	0.94292	.	.	ENSG00000125375;ENSG00000125375;ENSG00000125375;ENSG00000125375;ENSG00000258447	ENST00000245448;ENST00000426751;ENST00000311459;ENST00000358473;ENST00000553905	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	M	0.86740	2.835	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;1.0;0.997	D	0.96283	0.9208	10	0.87932	D	0	-21.7681	20.0171	0.97481	0.0:1.0:0.0:0.0	.	82;110;110;110	Q8WXQ4;Q99766-3;Q99766;Q99766-2	.;.;ATP5S_HUMAN;.	F	110;110;110;82;82	ENSP00000245448:S110F;ENSP00000389246:S110F;ENSP00000308334:S110F;ENSP00000351258:S82F	ENSP00000245448:S110F	S	+	2	0	RP11-247L20.2;ATP5S	49859155	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.796000	0.85898	2.723000	0.93209	0.585000	0.79938	TCT			0.473	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000410761.1		NM_015684		T	50789405	C	T	50789405	3	4	51	1	0	0	0	0	1	0	0	0	1163	913	32	3	339	3	ATP5S	14	50789405	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10		50789405	56560135	36	3644											
PLEKHG3	26030	mdanderson.org	37	chr14	65209934	65209934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagctctgctccaagtatgCctcccgcgatgaggcacgcc	7	8	11	15	3	1	2	0	2	1	0	3	3	3	2	4	1	3	4	4	1	2	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr14:65209934C>T	ENST00000394691.1	+	17	3320	c.3173C>T	c.(3172-3174)gCc>gTc	p.A1058V	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.A563V|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.A591V|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.A1002V			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1058							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCCAAGTATGCCTCCCGCGAT	0.721																																					p.A1002V													.	.			0			c.C3005T												29	35	33					14																	65209934		2200	4295	6495	SO:0001583	missense	26030	exon15			AGTATGCCTCCCG	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3173C>T	14.37:g.65209934C>T	ENSP00000378183:p.Ala1058Val		36	0	0		27	0.11	3	NM_015549	16	0	0	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	C	16.22	3.060784	0.55432	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.64085	0.37;-0.08;1.27;1.27	5.56	4.67	0.58626	.	0.309803	0.27991	N	0.017027	T	0.65396	0.2687	L	0.59436	1.845	0.09310	N	1	P;P;P;P	0.46952	0.86;0.86;0.709;0.887	P;P;B;P	0.46585	0.453;0.453;0.185;0.521	T	0.62324	-0.6878	10	0.66056	D	0.02	.	15.4222	0.75022	0.0:0.86:0.1399:0.0	.	591;563;1058;1002	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	V	1002;1058;591;563	ENSP00000247226:A1002V;ENSP00000378183:A1058V;ENSP00000450945:A591V;ENSP00000450973:A563V	ENSP00000247226:A1002V	A	+	2	0	PLEKHG3	64279687	0.362000	0.24980	0.023000	0.16930	0.196000	0.23810	6.028000	0.70889	1.325000	0.45301	0.655000	0.94253	GCC			0.721	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000412028.1		NM_015549		T	65209934	C	T	65209934	3	4	51	1	0	0	0	0	1	0	0	0	12087	739	26	2	3059	2	PLEKHG3	14	65209934	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10	14420529	65209934	42139606	37	3645											
ISM2	145501	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	77950769	77950769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgggtcctgggaggcgtgGcattccctggggtcagggct	3	9	18	11	1	1	0	1	0	0	0	3	1	3	1	3	7	0	2	3	7	0	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr14:77950769G>A	ENST00000342219.4	-	3	580	c.524C>T	c.(523-525)gCc>gTc	p.A175V	ISM2_ENST00000493585.1_Missense_Mutation_p.A175V|ISM2_ENST00000429906.1_Missense_Mutation_p.A94V|ISM2_ENST00000393684.3_Missense_Mutation_p.A87V|ISM2_ENST00000412904.1_Intron	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	175						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGGAGGCGTGGCATTCCCTGG	0.597																																					p.A175V													ISM2,colon,carcinoma,+1,1	ISM2	68	1	0			c.C524T												115	104	108					14																	77950769		2203	4300	6503	SO:0001583	missense	145501	exon3			GGCGTGGCATTCC	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.524C>T	14.37:g.77950769G>A	ENSP00000341490:p.Ala175Val		105	0	0		129	0.05	6	NM_199296	9	0	0	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674889	0.47781	.	.	ENSG00000100593	ENST00000342219;ENST00000429906;ENST00000393684;ENST00000493585;ENST00000554801	T;T;T;T	0.40476	1.86;1.85;2.17;1.03	3.15	0.938	0.19500	.	0.748191	0.11190	N	0.590009	T	0.31040	0.0784	L	0.43152	1.355	0.09310	N	1	P;B	0.42518	0.782;0.421	B;B	0.34779	0.189;0.039	T	0.09207	-1.0685	10	0.33141	T	0.24	-5.0408	11.4644	0.50230	0.0:0.3143:0.6857:0.0	.	175;175	Q6H9L7-2;Q6H9L7	.;ISM2_HUMAN	V	175;94;87;175;94	ENSP00000341490:A175V;ENSP00000395387:A94V;ENSP00000377289:A87V;ENSP00000420452:A175V	ENSP00000341490:A175V	A	-	2	0	ISM2	77020522	0.004000	0.15560	0.001000	0.08648	0.160000	0.22226	0.902000	0.28459	0.429000	0.26202	0.306000	0.20318	GCC			0.597	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000351309.1		NM_182509		A	77950769	G	A	77950769	3	1	51	1	0	0	0	0	1	0	0	0	7876	1203	42	2	1211	2	ISM2	14	77950769	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	12740835	77950769	29398771	38	3646											
FAM181A	90050	mdanderson.org	37	chr14	94395420	94395420	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggatgtggacggcctgggGcagaaggtgtgcaggcccgt	8	6	19	8	2	0	1	0	0	0	1	0	3	0	3	2	7	1	2	2	7	2	0			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr14:94395420G>T	ENST00000267594.5	+	3	1282	c.975G>T	c.(973-975)ggG>ggT	p.G325G	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Silent_p.G263G|FAM181A_ENST00000556222.1_Silent_p.G263G|FAM181A_ENST00000557719.1_Silent_p.G263G	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	325										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						ACGGCCTGGGGCAGAAGGTGT	0.647																																					p.G325G													.	.			0			c.G975T												32	36	35					14																	94395420		2203	4299	6502	SO:0001819	synonymous_variant	90050	exon3			CCTGGGGCAGAAG	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.975G>T	14.37:g.94395420G>T			33	0	0		35	0.09	3	NM_138344	0		0	B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	CCDS9914.1																																																																																					0.647	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000412840.1		NM_138344		T	94395420	G	T	94395420	2	4	51	1	0	0	0	0	0	0	0	1	5518	1190	42	2		2	FAM181A	14	94395420	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	16444651	94395420	12954120	39	3647											
EID1	399694	mdanderson.org	37	chr15	49170510	49170510	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctatccctgcgtccctcccGcagcggggcccaacagctcg	5	6	11	19	4	0	0	0	0	0	0	4	0	3	0	4	2	4	3	4	2	2	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr15:49170510G>A	ENST00000332408.4	-	4	1269				EID1_ENST00000560490.1_Intron|EID1_ENST00000530028.2_Missense_Mutation_p.R46H|SHC4_ENST00000396535.3_5'Flank|EID1_ENST00000558295.1_Intron|SHC4_ENST00000537958.1_5'Flank	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CGTCCCTCCCGCAGCGGGGCC	0.672																																					p.R46H													.	.			0			c.G137A												36	40	39					15																	49170510		2000	4150	6150	SO:0001627	intron_variant	23741	exon1			CCTCCCGCAGCGG	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+5934C>T	15.37:g.49170510G>A			52	0	0		39	0.08	3	NM_014335	253	0	0	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	8.499	0.863708	0.17250	.	.	ENSG00000255302	ENST00000530028	T	0.34072	1.38	3.59	0.584	0.17422	.	.	.	.	.	T	0.23806	0.0576	L	0.36672	1.1	0.18873	N	0.999982	B	0.06786	0.001	B	0.04013	0.001	T	0.28650	-1.0037	9	0.66056	D	0.02	.	2.2775	0.04106	0.1111:0.1932:0.4967:0.199	.	46	Q9Y6B2	EID1_HUMAN	H	46	ENSP00000431162:R46H	ENSP00000431162:R46H	R	+	2	0	EID1	46957802	0.964000	0.33143	0.005000	0.12908	0.091000	0.18340	0.995000	0.29706	0.136000	0.18733	-0.142000	0.14014	CGC			0.672	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254371.1		NM_203349		A	49170510	G	A	49170510	1	1	51	0	1	0	0	0	0	0	0	0	4991	1087	38	1		1	EID1	15	49170510	Intron	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		49170510	53360882	40	3648											
MESP2	145873	hgsc.bcm.edu	37	chr15	90320132	90320132	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggcggaggggcaggggCaagggcaggggcaggggcag	8	0	25	8	2	0	0	0	0	0	0	0	1	0	1	0	11	0	6	0	11	1	0	rs200021459	byFrequency	TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr15:90320132C>G	ENST00000341735.3	+	1	544	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	182	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ggggcaggggcaagggcaggg	0.786																																					p.Q182E													MESP2,NS,carcinoma,-2,1	MESP2	-2	1	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.C544G												3	3	3					15																	90320132		1229	2996	4225	SO:0001583	missense	145873	exon1			CAGGGGCAAGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.544C>G	15.37:g.90320132C>G	ENSP00000342392:p.Gln182Glu		15	0	0		32	0.06	2	NM_001039958	0		0	Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	C	1.101	-0.661169	0.03454	.	.	ENSG00000188095	ENST00000341735	T	0.81078	-1.45	0.798	-0.239	0.13050	.	.	.	.	.	T	0.57844	0.2081	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.39272	-0.9622	9	0.09338	T	0.73	.	5.309	0.15819	0.0:0.7609:0.0:0.2391	.	182	Q0VG99	MESP2_HUMAN	E	182	ENSP00000342392:Q182E	ENSP00000342392:Q182E	Q	+	1	0	MESP2	88121136	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.199000	0.09491	-0.121000	0.11787	-0.657000	0.03884	CAA			0.786	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416421.1		XM_085261		G	90320132	C	G	90320132	3	3	51	1	0	0	0	0	1	0	0	0	9499	711	25	5	546	5	MESP2	15	90320132	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10	41149622	90320132	12211260	41	3649			1	7		2	2	42	N	C_A	7.946256e-05
MESP2	145873	broad.mit.edu;mdanderson.org	37	chr15	90320173	90320173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaagggcaggggcaaggAcaggggcaaggacaggggca	12	0	22	7	0	0	0	0	0	0	0	0	2	0	2	0	10	0	5	0	10	3	0	rs113636330		TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr15:90320173A>G	ENST00000341735.3	+	1	585	c.585A>G	c.(583-585)ggA>ggG	p.G195G	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			aggggcaaggacaggggcaag	0.781																																					p.G195G													.	MESP2	20		0			c.A585G												3	5	4					15																	90320173		1538	3548	5086	SO:0001819	synonymous_variant	145873	exon1			GCAAGGACAGGGG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.585A>G	15.37:g.90320173A>G			21	0	0		38	0.05	2	NM_001039958	1	0	0	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																					0.781	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416421.1		XM_085261		G	90320173	A	G	90320173	2	3	51	1	0	0	0	0	0	0	0	1	9499	262	10	4		4	MESP2	15	90320173	Silent	SNP	A	TCGA-2G-AAHG-01A-11D-A42Y-10	41	90320173	12211219	42	3650			1	7		2	2	42	N	C_A	7.946256e-05
SEC14L5	9717	mdanderson.org	37	chr16	5041986	5041986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctccctggaggcccacgggCcccgtagcaccctggggccc	4	4	14	19	2	0	0	0	0	0	0	1	1	1	1	6	5	1	3	6	5	1	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr16:5041986C>T	ENST00000251170.7	+	6	802	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	208						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCCCACGGGCCCCGTAGCAC	0.692																																					p.P208S													.	.			0			c.C622T												13	14	14					16																	5041986		1923	4100	6023	SO:0001583	missense	9717	exon6			CACGGGCCCCGTA	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.622C>T	16.37:g.5041986C>T	ENSP00000251170:p.Pro208Ser		16	0	0		31	0.1	3	NM_014692	3	0	0		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	8.852	0.944834	0.18356	.	.	ENSG00000103184	ENST00000251170	T	0.69561	-0.41	3.11	0.715	0.18186	.	0.430091	0.18569	N	0.137400	T	0.61135	0.2323	L	0.56769	1.78	0.09310	N	1	B	0.31790	0.34	B	0.37047	0.24	T	0.50215	-0.8854	10	0.13853	T	0.58	-20.1169	13.1925	0.59719	0.1887:0.8113:0.0:0.0	.	208	O43304	S14L5_HUMAN	S	208	ENSP00000251170:P208S	ENSP00000251170:P208S	P	+	1	0	SEC14L5	4981987	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.623000	0.24447	0.167000	0.19631	0.555000	0.69702	CCC			0.692	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434379.1				T	5041986	C	T	5041986	3	4	51	1	0	0	0	0	1	0	0	0	14008	739	26	2	640	2	SEC14L5	16	5041986	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10		5041986	85312767	43	3651											
ARHGAP17	55114	ucsc.edu	37	chr16	24965936	24965936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcacctcctccttcatGcctgtctccagaagcagcat	7	10	5	19	0	3	1	2	0	1	1	6	1	5	1	7	0	3	2	7	0	1	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr16:24965936G>A	ENST00000289968.6	-	10	909	c.840C>T	c.(838-840)ggC>ggT	p.G280G	ARHGAP17_ENST00000303665.5_Silent_p.G280G|ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000575975.1_5'Flank	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	280	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)|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)		CCTCCTTCATGCCTGTCTCCA	0.597																																					p.G280G													.	ARHGAP17	138		0			c.C840T												117	109	112					16																	24965936		2197	4300	6497	SO:0001819	synonymous_variant	55114	exon10			CTTCATGCCTGTC	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.840C>T	16.37:g.24965936G>A			43	0	0		41	0.1	4	NM_001006634	68	0	0	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	CCDS32409.1																																																																																					0.597	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436548.3		NM_018054		A	24965936	G	A	24965936	2	1	51	1	0	0	0	0	0	0	0	1	867	1306	46	2		2	ARHGAP17	16	24965936	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	19923950	24965936	65388817	44	3652											
TAOK2	9344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	29998788	29998788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggtggctatggcagcGgggggcagatgggtgcggca	5	7	20	9	2	1	1	0	0	1	1	1	1	1	1	1	8	2	4	1	8	1	1			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr16:29998788G>A	ENST00000308893.4	+	16	4238	c.3195G>A	c.(3193-3195)gcG>gcA	p.A1065A	TAOK2_ENST00000543033.1_Silent_p.A952A|TAOK2_ENST00000416441.2_Silent_p.A892A|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1065					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTATGGCAGCGGGGGGCAGAT	0.687																																					p.A1065A													TAOK2_ENST00000308893,colon,carcinoma,+1,1	TAOK2_ENST00000308893	1	1	0			c.G3195A												18	24	22					16																	29998788		2182	4288	6470	SO:0001819	synonymous_variant	9344	exon16			GGCAGCGGGGGGC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3195G>A	16.37:g.29998788G>A			82	0	0		89	0.26	23	NM_016151	80	0.34	27	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	CCDS10663.1																																																																																					0.687	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000255152.2		NM_016151		A	29998788	G	A	29998788	2	1	51	1	0	0	0	0	0	0	0	1	15571	1103	39	1		1	TAOK2	16	29998788	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	5032852	29998788	60355965	45	3653											
PHKB	5257	mdanderson.org	37	chr16	47622988	47622988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggaagatcccaacagatGctactacaagccagctgaaa	16	7	8	10	0	0	3	0	1	0	2	1	4	1	4	2	1	6	2	2	1	6	3			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr16:47622988G>T	ENST00000323584.5	+	10	1067	c.1043G>T	c.(1042-1044)tGc>tTc	p.C348F	PHKB_ENST00000566044.1_Missense_Mutation_p.C341F|PHKB_ENST00000299167.8_Missense_Mutation_p.C348F|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_Missense_Mutation_p.C341F	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	348					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)|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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CCCAACAGATGCTACTACAAG	0.358																																					p.C348F													.	.			0			c.G1043T												61	65	64					16																	47622988		2201	4300	6501	SO:0001583	missense	5257	exon10			ACAGATGCTACTA		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1043G>T	16.37:g.47622988G>T	ENSP00000313504:p.Cys348Phe		62	0	0		64	0.06	4	NM_000293	60	0	0	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	8.194	0.796603	0.16327	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.92595	-3.07;-3.07	5.83	4.88	0.63580	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.051696	0.85682	D	0.000000	T	0.81522	0.4840	N	0.08118	0	0.32911	D	0.514495	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.77824	-0.2444	10	0.17369	T	0.5	-1.3009	11.3284	0.49463	0.0678:0.1281:0.8041:0.0	.	348;341	Q93100;Q93100-4	KPBB_HUMAN;.	F	341;341;348	ENSP00000414345:C341F;ENSP00000313504:C348F	ENSP00000299167:C341F	C	+	2	0	PHKB	46180489	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.647000	0.74354	1.482000	0.48325	-0.234000	0.12200	TGC			0.358	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000430413.1				T	47622988	G	T	47622988	3	4	51	1	0	0	0	0	1	0	0	0	11862	1319	46	2	1140	2	PHKB	16	47622988	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	17624200	47622988	42731765	46	3654											
POLR2A	5430	broad.mit.edu	37	chr17	7407047	7407047	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcatggcagaggagtttcgGctcagtggggaggccttcga	7	8	17	9	3	1	1	1	0	0	1	3	4	1	3	1	6	0	4	1	6	0	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr17:7407047G>T	ENST00000322644.6	+	19	3576	c.3177G>T	c.(3175-3177)cgG>cgT	p.R1059R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1059					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)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AGGAGTTTCGGCTCAGTGGGG	0.552																																					p.R1059R													.	POLR2A	157		0			c.G3177T												74	61	66					17																	7407047		2203	4300	6503	SO:0001819	synonymous_variant	5430	exon19			GTTTCGGCTCAGT			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3177G>T	17.37:g.7407047G>T			209	0	0		257	0.02	4	NM_000937	196	0	0	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																					0.552	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437967.1		NM_000937		T	7407047	G	T	7407047	2	4	51	1	0	0	0	0	0	0	0	1	12231	1190	42	2		2	POLR2A	17	7407047	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		7407047	73788163	47	3655											
GUCY2D	3000	mdanderson.org	37	chr17	7909965	7909965	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacccggatgcacttcccGcgtgggggatcagcacccgg	6	6	15	14	4	1	0	1	0	0	0	2	2	2	2	3	5	3	3	3	5	1	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr17:7909965G>T	ENST00000254854.4	+	4	1461	c.1311G>T	c.(1309-1311)ccG>ccT	p.P437P		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	437					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)			skin(1)	1		Prostate(122;0.157)				TGCACTTCCCGCGTGGGGGAT	0.647																																					p.P437P													.	.			0			c.G1311T												23	22	22					17																	7909965		2203	4300	6503	SO:0001819	synonymous_variant	3000	exon4			CTTCCCGCGTGGG	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1311G>T	17.37:g.7909965G>T			56	0	0		51	0.06	3	NM_000180	0		0	Q6LEA7	Silent	SNP	ENST00000254854.4	37	CCDS11127.1																																																																																					0.647	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226973.2				T	7909965	G	T	7909965	2	4	51	1	0	0	0	0	0	0	0	1	6912	1074	38	1		1	GUCY2D	17	7909965	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	502918	7909965	73285245	48	3656											
ACACA	31	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	35445916	35445916	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgctgatgcatttgaTgttttcctctattaccgagt	6	18	8	9	1	2	2	0	2	2	0	4	3	3	2	2	0	3	3	2	0	2	5			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr17:35445916T>G	ENST00000394406.2	-	55	7064	c.6874A>C	c.(6874-6876)Atc>Ctc	p.I2292L	ACACA_ENST00000360679.3_Missense_Mutation_p.I2234L|ACACA_ENST00000353139.5_Missense_Mutation_p.I2329L|ACACA_ENST00000335166.5_Missense_Mutation_p.I2214L|ACACA_ENST00000361253.5_Missense_Mutation_p.I418L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2292					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)	ATGCATTTGATGTTTTCCTCT	0.463																																					p.I2329L	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												ACACA_ENST00000353139,bladder,carcinoma,+2,2	ACACA_ENST00000353139	2	2	0			c.A6985C												293	246	262					17																	35445916		2203	4300	6503	SO:0001583	missense	31	exon55			ATTTGATGTTTTC	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.6874A>C	17.37:g.35445916T>G	ENSP00000377928:p.Ile2292Leu		273	0	0		302	0.27	83	NM_198834	232	0.38	87	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481388	0.63849	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	L	0.60845	1.875	0.80722	D	1	B;B;B;B;B	0.15719	0.001;0.014;0.002;0.0;0.0	B;B;B;B;B	0.21708	0.009;0.036;0.025;0.004;0.01	T	0.39035	-0.9633	10	0.12103	T	0.63	-13.7742	16.089	0.81080	0.0:0.0:0.0:1.0	.	330;991;2329;2292;2234	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	L	2329;2234;2292;2316;2214;991;418	ENSP00000344789:I2329L;ENSP00000353898:I2234L;ENSP00000377928:I2292L;ENSP00000335323:I2214L;ENSP00000354565:I418L	ENSP00000335323:I2214L	I	-	1	0	ACACA	32520029	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.021000	0.88750	2.205000	0.71048	0.533000	0.62120	ATC			0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256696.1		NM_198836		G	35445916	T	G	35445916	3	3	51	1	0	0	0	0	1	0	0	0	106	1464	51	4	174	4	ACACA	17	35445916	Missense_Mutation	SNP	T	TCGA-2G-AAHG-01A-11D-A42Y-10	27535951	35445916	45749294	49	3657											
CDH19	28513	bcgsc.ca;mdanderson.org	37	chr18	64172301	64172301	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaatatggcactgtcgggGccaacttgcaaagactgcct	10	9	11	11	1	0	2	0	1	0	1	1	2	0	2	2	3	3	2	2	3	4	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr18:64172301G>A	ENST00000262150.2	-	12	2359	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {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)				CACTGTCGGGGCCAACTTGCA	0.498																																					p.G689G													.	CDH19	141		0			c.C2067T												155	149	151					18																	64172301		2203	4300	6503	SO:0001819	synonymous_variant	28513	exon12			GTCGGGGCCAACT	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	ENST00000262150.2:c.2067C>T	18.37:g.64172301G>A			99	0	0		89	0.06	5	NM_021153	1	0	0	O15098	Silent	SNP	ENST00000262150.2	37	CCDS11994.1																																																																																					0.498	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256219.1		NM_021153		A	64172301	G	A	64172301	2	1	51	1	0	0	0	0	0	0	0	1	3106	1190	42	2		2	CDH19	18	64172301	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		64172301	13904947	50	3658											
ACTL9	284382	mdanderson.org	37	chr19	8808404	8808404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccagacgctccgtggcGtggagcaggttgtagccctg	6	8	16	11	3	0	1	0	0	0	1	2	2	2	2	3	4	2	4	3	4	1	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr19:8808404G>T	ENST00000324436.3	-	1	768	c.648C>A	c.(646-648)caC>caA	p.H216Q		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	216						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTCCGTGGCGTGGAGCAGGT	0.682																																					p.H216Q													ACTL9,NS,carcinoma,0,2	ACTL9	0	2	0			c.C648A												47	45	45					19																	8808404		2203	4299	6502	SO:0001583	missense	284382	exon1			CGTGGCGTGGAGC		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.648C>A	19.37:g.8808404G>T	ENSP00000316674:p.His216Gln		13	0	0		15	0.13	2	NM_178525	0		0	A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464217	0.63513	.	.	ENSG00000181786	ENST00000324436	T	0.08282	3.11	4.55	-2.58	0.06228	.	0.789151	0.11006	N	0.610029	T	0.21841	0.0526	M	0.67397	2.05	0.35675	D	0.813654	D	0.69078	0.997	D	0.70016	0.967	T	0.42292	-0.9460	10	0.87932	D	0	.	10.4052	0.44252	0.6295:0.0:0.3705:0.0	.	216	Q8TC94	ACTL9_HUMAN	Q	216	ENSP00000316674:H216Q	ENSP00000316674:H216Q	H	-	3	2	ACTL9	8669404	0.161000	0.22892	0.835000	0.33067	0.906000	0.53458	-0.664000	0.05292	-0.196000	0.10366	0.462000	0.41574	CAC			0.682	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459953.1		NM_178525		T	8808404	G	T	8808404	3	4	51	1	0	0	0	0	1	0	0	0	203	1136	40	1	606	1	ACTL9	19	8808404	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		8808404	50320579	51	3659											
ZNF433	163059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	12126012	12126012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcataaggtttctctccaGtgtgagtccttccatgaatt	9	16	7	9	0	2	2	1	2	1	0	6	2	5	2	3	1	0	1	3	1	2	5			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr19:12126012G>A	ENST00000344980.6	-	4	1840	c.1670C>T	c.(1669-1671)aCt>aTt	p.T557I	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.T522I|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	557					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(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TTTCTCTCCAGTGTGAGTCCT	0.463																																					p.T557I													.	.			0			c.C1670T												100	104	103					19																	12126012		2203	4300	6503	SO:0001583	missense	163059	exon4			TCTCCAGTGTGAG	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1670C>T	19.37:g.12126012G>A	ENSP00000339767:p.Thr557Ile		137	0	0		171	0.32	55	NM_001080411	21	0.43	9	Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520663	0.64747	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.25749	1.78;1.78	1.37	0.121	0.14695	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44074	0.1276	M	0.73372	2.23	0.23298	N	0.997959	D	0.69078	0.997	D	0.69142	0.962	T	0.22906	-1.0203	9	0.66056	D	0.02	.	8.3351	0.32211	0.0:0.2487:0.7512:0.0	.	557	Q8N7K0	ZN433_HUMAN	I	522;557	ENSP00000393416:T522I;ENSP00000339767:T557I	ENSP00000339767:T557I	T	-	2	0	ZNF433	11987012	0.991000	0.36638	0.349000	0.25694	0.880000	0.50808	1.607000	0.36836	0.093000	0.17368	0.298000	0.19748	ACT			0.463	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403716.1		NM_152602		A	12126012	G	A	12126012	3	1	51	1	0	0	0	0	1	0	0	0	17930	1029	36	3	355	3	ZNF433	19	12126012	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	3317608	12126012	47002971	52	3660											
RHPN2	85415	mdanderson.org	37	chr19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcagctccagccgcaCttgctcccgcacctttgagt	7	9	9	16	2	1	1	1	1	0	0	3	2	3	1	4	0	4	5	4	0	1	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr19:33517507C>T	ENST00000254260.3	-	3	252	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V73M(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	Esophageal squamous(110;0.137)					TCCAGCCGCACTTGCTCCCGC	0.552																																					p.V73M													RHPN2,face,carcinoma,0,2	RHPN2	0	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A												84	83	83					19																	33517507		2203	4300	6503	SO:0001583	missense	85415	exon3			GCCGCACTTGCTC	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.217G>A	19.37:g.33517507C>T	ENSP00000254260:p.Val73Met		19	0	0		25	0.12	3	NM_033103	26	0	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542997	0.65198	.	.	ENSG00000131941	ENST00000254260	T	0.39787	1.06	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71984	-0.4427	10	0.87932	D	0	11.9954	16.025	0.80536	0.0:1.0:0.0:0.0	.	73	Q8IUC4	RHPN2_HUMAN	M	73	ENSP00000254260:V73M	ENSP00000254260:V73M	V	-	1	0	RHPN2	38209347	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.267000	0.78462	2.167000	0.68274	0.557000	0.71058	GTG			0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450828.2		NM_033103		T	33517507	C	T	33517507	3	4	51	1	0	0	0	0	1	0	0	0	13374	565	20	3	1895	3	RHPN2	19	33517507	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10	21391495	33517507	25611476	53	3661											
C20orf134	170487	mdanderson.org	37	chr20	32255441	32255441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggccaccttccgactgaaCgtggcaggcagcaccctgtc	8	6	11	16	2	0	1	0	1	0	0	2	2	1	1	4	3	2	3	4	3	1	1	rs147746551	byFrequency	TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr20:32255441C>T	ENST00000330271.4	+	1	1138	c.138C>T	c.(136-138)aaC>aaT	p.N46N	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	46																	TCCGACTGAACGTGGCAGGCA	0.706																																					p.N46N													.	.			0			c.C138T												21	16	18					20																	32255441		2196	4286	6482	SO:0001819	synonymous_variant	170487	exon1			ACTGAACGTGGCA	AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 134"	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.138C>T	20.37:g.32255441C>T			56	0	0		46	0.07	3	NM_001024675	0		0	B9EH76	Silent	SNP	ENST00000330271.4	37	CCDS33463.1																																																																																					0.706	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078713.1				T	32255441	C	T	32255441	2	4	51	1	0	0	0	0	0	0	0	1	2089	535	19	1		1	C20orf134	20	32255441	Silent	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10		32255441	30770079	54	3662											
IFNAR2	3455	broad.mit.edu	37	chr21	34635615	34635615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgctatcgtctcatcTggaagagatggttgacccag	9	12	11	9	1	3	3	1	2	3	1	5	5	3	4	1	2	1	2	1	2	2	2			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr21:34635615T>C	ENST00000342136.4	+	9	1684	c.1358T>C	c.(1357-1359)cTg>cCg	p.L453P	IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.L453P			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	453					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)"	TCGTCTCATCTGGAAGAGATG	0.483																																					p.L453P													.	IFNAR2	44		0			c.T1358C												245	246	246					21																	34635615		2203	4300	6503	SO:0001583	missense	3455	exon9			CTCATCTGGAAGA		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.1358T>C	21.37:g.34635615T>C	ENSP00000343957:p.Leu453Pro		79	0	0		146	0.03	4	NM_207585	35	0	0	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.609339	0.00842	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.20738	2.05;2.05	4.74	-0.747	0.11091	.	2.533200	0.01165	N	0.006725	T	0.04861	0.0131	N	0.00554	-1.385	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.40040	-0.9584	10	0.02654	T	1	.	3.0751	0.06243	0.3189:0.4048:0.0:0.2764	.	453	P48551	INAR2_HUMAN	P	453	ENSP00000371676:L453P;ENSP00000343957:L453P	ENSP00000343957:L453P	L	+	2	0	IFNAR2	33557485	0.009000	0.17119	0.005000	0.12908	0.001000	0.01503	0.126000	0.15769	0.023000	0.15187	-0.837000	0.03062	CTG			0.483	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000139825.1				C	34635615	T	C	34635615	3	2	51	1	0	0	0	0	1	0	0	0	7560	1580	55	4	1548	4	IFNAR2	21	34635615	Missense_Mutation	SNP	T	TCGA-2G-AAHG-01A-11D-A42Y-10		34635615	13494280	55	3663											
CARD10	29775	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	37903924	37903924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagtccttctgcagcgtgCggtgcttgagccgcaggtct	5	10	13	13	3	2	1	0	1	2	0	3	1	3	1	2	2	5	3	2	2	0	2	rs150236189	byFrequency	TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr22:37903924C>T	ENST00000403299.1	-	7	1319	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	CARD10_ENST00000251973.5_Missense_Mutation_p.R368H|CARD10_ENST00000494166.1_5'Flank|CARD10_ENST00000406271.3_Missense_Mutation_p.R82H			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	368					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)					CTGCAGCGTGCGGTGCTTGAG	0.622																																					p.R368H													.	CARD10	55		0			c.G1103A							C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	174	140	151		1103	5.3	1	22	dbSNP_134	151	0,8600		0,0,4300	no	missense	CARD10	NM_014550.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	368/1033	37903924	2,13004	2203	4300	6503	SO:0001583	missense	29775	exon6			AGCGTGCGGTGCT	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.1103G>A	22.37:g.37903924C>T	ENSP00000384570:p.Arg368His		115	0.0086956522	1		132	0.48	63	NM_014550	77	0.65	50	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228715	0.79576	4.54E-4	0.0	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.14	5.35	5.35	0.76521	.	0.059305	0.64402	D	0.000003	T	0.76673	0.4020	L	0.59436	1.845	0.22762	N	0.998764	D;D	0.57571	0.98;0.957	P;P	0.46796	0.513;0.527	T	0.72424	-0.4298	10	0.48119	T	0.1	-16.8812	11.7297	0.51730	0.0:0.9185:0.0:0.0815	.	368;82	Q9BWT7;Q8NC81	CAR10_HUMAN;.	H	368;82;368;9	ENSP00000384570:R368H;ENSP00000385799:R82H;ENSP00000251973:R368H;ENSP00000416239:R9H	ENSP00000251973:R368H	R	-	2	0	CARD10	36233870	1.000000	0.71417	0.999000	0.59377	0.784000	0.44337	3.559000	0.53756	2.517000	0.84864	0.555000	0.69702	CGC			0.622	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318997.1		NM_014550		T	37903924	C	T	37903924	3	4	51	1	0	0	0	0	1	0	0	0	2646	768	27	1	2055	1	CARD10	22	37903924	Missense_Mutation	SNP	C	TCGA-2G-AAHG-01A-11D-A42Y-10		37903924	13400642	56	3664											
ADSL	158	broad.mit.edu	37	chr22	40757555	40757555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttgctgcagtcttgcccGccacctgatgacccttgtca	6	11	9	15	2	2	2	1	2	1	0	2	2	2	2	4	0	3	3	4	0	0	3			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chr22:40757555G>A	ENST00000216194.7	+	9	982	c.926G>A	c.(925-927)cGc>cAc	p.R309H	ADSL_ENST00000342312.6_Missense_Mutation_p.R309H|ADSL_ENST00000454266.2_Missense_Mutation_p.R323H|ADSL_ENST00000480775.1_3'UTR	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	309					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGTCTTGCCCGCCACCTGATG	0.532																																					p.R309H	Colon(4;65 130 1097 1516)												.	ADSL	98		0			c.G926A												146	117	127					22																	40757555		2203	4300	6503	SO:0001583	missense	158	exon9			TTGCCCGCCACCT	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.926G>A	22.37:g.40757555G>A	ENSP00000216194:p.Arg309His		64	0	0		93	0.04	4	NM_001123378	974	0	0	B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	36	5.731123	0.96856	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	T;T;T	0.73897	-0.79;-0.79;-0.79	5.91	5.91	0.95273	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	H	0.97758	4.07	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	0.93979	0.7256	10	0.87932	D	0	-17.1946	20.2985	0.98592	0.0:0.0:1.0:0.0	.	323;309;309;309	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	H	309;323;129;309	ENSP00000216194:R309H;ENSP00000390107:R323H;ENSP00000341429:R309H	ENSP00000216194:R309H	R	+	2	0	ADSL	39087501	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.026000	0.93700	2.793000	0.96121	0.655000	0.94253	CGC			0.532	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321386.1		NM_000026		A	40757555	G	A	40757555	3	1	51	1	0	0	0	0	1	0	0	0	346	1087	38	1	960	1	ADSL	22	40757555	Missense_Mutation	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	2853631	40757555	10547011	57	3665											
VCX3B	425054	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	8434340	8434340	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgagtcaggagagccaGgtggaggaaccactgagtca	12	5	14	10	0	2	3	2	2	0	1	2	6	2	5	3	4	2	0	3	4	1	0			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chrX:8434340G>A	ENST00000381032.1	+	3	964	c.657G>A	c.(655-657)caG>caA	p.Q219Q	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Silent_p.Q187Q|VCX3B_ENST00000444481.1_Silent_p.Q189Q|VCX3B_ENST00000440654.2_Silent_p.Q169Q	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	219	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGGAGAGCCAGGTGGAGGAAC	0.562																																					p.Q219Q													.	.			0			c.G657A												87	166	139					X																	8434340		2182	4246	6428	SO:0001819	synonymous_variant	425054	exon3			GAGCCAGGTGGAG		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.657G>A	X.37:g.8434340G>A			289	0.0034602076	1		434	0.41	179	NM_001001888	62	0.11	7	C9JS46|Q4KN12	Silent	SNP	ENST00000381032.1	37	CCDS48077.2																																																																																					0.562	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000055691.1				A	8434340	G	A	8434340	2	1	51	1	0	0	0	0	0	0	0	1	17169	991	35	3		3	VCX3B	23	8434340	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10		8434340	146836220	58	3666											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240		TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					p.E69E	NSCLC(90;1817 2035 37909 38249)												.	NUDT10	28		8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	c.G207A												52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			CGAAGAGGCGGGA	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			203	0.0049261084	1		341	0.02	8	NM_153183	109	0	0	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																					0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056578.1		NM_153183		A	51076024	G	A	51076024	2	1	51	1	0	0	0	0	0	0	0	1	10743	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-2G-AAHG-01A-11D-A42Y-10	42641684	51076024	104194536	59	3667											
SPIN2B	474343	broad.mit.edu	37	chrX	57146615	57146615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttgagctaagaccaTccccctccattcatccttag	9	11	7	14	0	1	2	1	1	0	1	4	2	4	2	5	1	2	2	5	1	2	4			TCGA-2G-AAHG-01A-11D-A42Y-10	TCGA-2G-AAHG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10eaeb31-4b4d-4a4e-b429-25eaf4d45fa9	6a857e34-f9b6-4512-980b-8bc82ecddee7	g.chrX:57146615T>C	ENST00000333933.3	-	2	758	c.448A>G	c.(448-450)Atg>Gtg	p.M150V	SPIN2B_ENST00000275988.5_Missense_Mutation_p.M150V|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000374912.5_Missense_Mutation_p.M150V|SPIN2B_ENST00000374910.3_Intron	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	150					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						GCTAAGACCATCCCCCTCCAT	0.408																																					p.M150V													.	SPIN2B	11		0			c.A448G												89	80	83					X																	57146615		2200	4294	6494	SO:0001583	missense	474343	exon2			AGACCATCCCCCT	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.448A>G	X.37:g.57146615T>C	ENSP00000335008:p.Met150Val		349	0.0028653295	1		541	0.01	7	NM_001006683	13	0	0	Q7Z2M0	Missense_Mutation	SNP	ENST00000333933.3	37	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	t	8.506	0.865304	0.17250	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000333933;ENST00000434397	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	2.37	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.33753	1.03	0.40170	D	0.97716	B	0.33694	0.421	B	0.37304	0.246	T	0.05852	-1.0860	10	0.23302	T	0.38	-23.7792	7.9777	0.30164	0.0:0.0:0.0:1.0	.	150	Q9BPZ2	SPI2B_HUMAN	V	150	ENSP00000275988:M150V;ENSP00000364047:M150V;ENSP00000335008:M150V;ENSP00000404314:M150V	ENSP00000275988:M150V	M	-	1	0	SPIN2B	57163340	1.000000	0.71417	0.997000	0.53966	0.667000	0.39255	6.542000	0.73869	1.215000	0.43411	0.143000	0.16000	ATG			0.408	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056912.1		NM_001006681		C	57146615	T	C	57146615	3	2	51	1	0	0	0	0	1	0	0	0	15077	1435	50	4	332	4	SPIN2B	23	57146615	Missense_Mutation	SNP	T	TCGA-2G-AAHG-01A-11D-A42Y-10	6070591	57146615	98123945	60	3668											
LRRC47	57470	mdanderson.org	37	chr1	3703430	3703430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcgaggtgaggaagcGcttgagtgcattccctggct	7	9	14	11	2	0	2	0	2	0	0	1	4	1	3	2	3	3	3	2	3	1	2	rs151150139	byFrequency	TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr1:3703430G>T	ENST00000378251.1	-	2	1087	c.1060C>A	c.(1060-1062)Cgc>Agc	p.R354S	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	354							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GTGAGGAAGCGCTTGAGTGCA	0.647																																					p.R354S													.	.			0			c.C1060A												20	21	21					1																	3703430		2198	4297	6495	SO:0001583	missense	57470	exon2			GGAAGCGCTTGAG	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1060C>A	1.37:g.3703430G>T	ENSP00000367498:p.Arg354Ser		70	0	0		50	0.06	3	NM_020710	124	0	0	Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	CCDS51.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638882	0.47153	.	.	ENSG00000130764	ENST00000378251	T	0.33654	1.4	5.22	5.22	0.72569	B3/B4 tRNA-binding domain (1);	0.048889	0.85682	N	0.000000	T	0.33469	0.0864	N	0.08118	0	0.58432	D	0.999994	D	0.71674	0.998	D	0.73380	0.98	T	0.11372	-1.0590	10	0.09590	T	0.72	-34.7836	11.667	0.51379	0.0:0.0:0.7174:0.2826	.	354	Q8N1G4	LRC47_HUMAN	S	354	ENSP00000367498:R354S	ENSP00000367498:R354S	R	-	1	0	LRRC47	3693290	1.000000	0.71417	0.996000	0.52242	0.279000	0.26890	2.879000	0.48522	2.448000	0.82819	0.650000	0.86243	CGC			0.647	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009744.1		NM_020710		T	3703430	G	T	3703430	3	4	52	1	0	0	0	0	1	0	0	0	9020	1087	38	1	715	1	LRRC47	1	3703430	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		3703430	245547191	1	3669											
MUL1	79594	broad.mit.edu	37	chr1	20834437	20834437	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggccttctgccggtacacGgagtacagggcggcggtgac	6	6	17	12	5	1	1	0	1	1	0	1	2	1	2	2	6	3	2	2	6	2	3	rs537739019	byFrequency	TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr1:20834437G>T	ENST00000264198.3	-	1	217	c.81C>A	c.(79-81)tcC>tcA	p.S27S		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	27					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCCGGTACACGGAGTACAGGG	0.697																																					p.S27S													.	MUL1	34		0			c.C81A												20	23	22					1																	20834437		2200	4295	6495	SO:0001819	synonymous_variant	79594	exon1			GTACACGGAGTAC	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.81C>A	1.37:g.20834437G>T			136	0.0147058824	2		89	0.04	4	NM_024544	7	0	0	B5M497|Q7Z431|Q9H9B5	Silent	SNP	ENST00000264198.3	37	CCDS208.1																																																																																					0.697	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007951.1		NM_024544		T	20834437	G	T	20834437	2	4	52	1	0	0	0	0	0	0	0	1	10000	1103	39	1		1	MUL1	1	20834437	Silent	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	17131007	20834437	228416184	2	3670											
FOXD3	27022	hgsc.bcm.edu	37	chr1	63789225	63789225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagctgaccctgagcGgcatctgcgagttcatcagc	11	7	12	11	2	3	4	2	2	1	2	3	5	3	4	1	1	4	3	1	1	2	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr1:63789225G>A	ENST00000371116.2	+	1	496	c.496G>A	c.(496-498)Ggc>Agc	p.G166S	RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	166					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						GACCCTGAGCGGCATCTGCGA	0.582																																					p.G166S	Pancreas(68;276 1750 11966 31252)												.	.			0			c.G496A												69	77	74					1																	63789225		2203	4300	6503	SO:0001583	missense	27022	exon1			CTGAGCGGCATCT	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.496G>A	1.37:g.63789225G>A	ENSP00000360157:p.Gly166Ser		113	0	0		94	0.04	4	NM_012183	0		0	Q9BYM2|Q9UDD1	Missense_Mutation	SNP	ENST00000371116.2	37	CCDS624.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392518	0.83011	.	.	ENSG00000187140	ENST00000371116	D	0.95518	-3.73	2.9	2.9	0.33743	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.135501	0.49305	U	0.000160	D	0.96769	0.8945	M	0.81497	2.545	0.80722	D	1	D	0.71674	0.998	D	0.65140	0.932	D	0.96735	0.9542	10	0.59425	D	0.04	.	14.5761	0.68249	0.0:0.0:1.0:0.0	.	166	Q9UJU5	FOXD3_HUMAN	S	166	ENSP00000360157:G166S	ENSP00000360157:G166S	G	+	1	0	FOXD3	63561813	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.452000	0.90346	1.916000	0.55485	0.404000	0.27445	GGC			0.582	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025331.1				A	63789225	G	A	63789225	3	1	52	1	0	0	0	0	1	0	0	0	6011	1116	39	1	498	1	FOXD3	1	63789225	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	42954788	63789225	185461396	3	3671											
MTF2	22823	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	93599295	93599295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagaaaaaaaaggaaagaAaaaatctgtaggtcgtccac	21	6	8	6	1	1	2	0	0	1	2	3	3	2	3	1	2	0	1	1	2	10	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr1:93599295A>G	ENST00000370298.4	+	12	1485	c.1196A>G	c.(1195-1197)aAa>aGa	p.K399R	MTF2_ENST00000545708.1_Missense_Mutation_p.K297R|MTF2_ENST00000370303.4_Missense_Mutation_p.K342R|MTF2_ENST00000540243.1_Missense_Mutation_p.K297R|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	399					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AAAGGAAAGAAAAAATCTGTA	0.348																																					p.K399R													.	.			0			c.A1196G												66	71	69					1																	93599295		2203	4300	6503	SO:0001583	missense	22823	exon12			GAAAGAAAAAATC	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1196A>G	1.37:g.93599295A>G	ENSP00000359321:p.Lys399Arg		43	0	0		36	0.25	9	NM_007358	54	0.35	19	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459499	0.43736	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.31510	1.49;1.49;1.89;1.74	5.24	5.24	0.73138	.	0.090818	0.85682	D	0.000000	T	0.05318	0.0141	N	0.08118	0	0.47065	D	0.999309	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.26538	-1.0100	10	0.08837	T	0.75	-0.2044	9.898	0.41331	0.9237:0.0:0.0763:0.0	.	342;399;297	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	R	297;297;399;342	ENSP00000444962:K297R;ENSP00000443295:K297R;ENSP00000359321:K399R;ENSP00000359326:K342R	ENSP00000359321:K399R	K	+	2	0	MTF2	93371883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.678000	0.68153	2.114000	0.64651	0.533000	0.62120	AAA			0.348	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000028075.3		NM_007358		G	93599295	A	G	93599295	3	3	52	1	0	0	0	0	1	0	0	0	9939	14	1	4	1242	4	MTF2	1	93599295	Missense_Mutation	SNP	A	TCGA-2G-AAHL-01A-11D-A42Y-10	29810070	93599295	155651326	4	3672											
S100A7	6278	broad.mit.edu	37	chr1	153430403	153430403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttatcctcattcttgtccTttttctcaaagacatcggcg	7	17	5	12	2	4	1	2	0	3	1	8	1	6	1	2	1	0	0	2	1	2	5			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr1:153430403T>C	ENST00000368723.3	-	3	295	c.185A>G	c.(184-186)aAg>aGg	p.K62R	S100A7_ENST00000368722.1_Missense_Mutation_p.K62R	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	62	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)			ATTCTTGTCCTTTTTCTCAAA	0.418																																					p.K62R													.	S100A7	23		0			c.A185G												101	91	95					1																	153430403		2203	4300	6503	SO:0001583	missense	6278	exon3			TTGTCCTTTTTCT	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.185A>G	1.37:g.153430403T>C	ENSP00000357712:p.Lys62Arg		249	0	0		222	0.02	5	NM_002963	11	0	0	Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.641765	0.29157	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.06371	3.31;3.31	2.02	0.79	0.18613	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.04543	0.0124	M	0.72118	2.19	0.09310	N	1	D	0.65815	0.995	P	0.60117	0.869	T	0.17961	-1.0352	9	0.07482	T	0.82	.	4.134	0.10162	0.3106:0.0:0.0:0.6894	.	62	P31151	S10A7_HUMAN	R	62	ENSP00000357712:K62R;ENSP00000357711:K62R	ENSP00000357711:K62R	K	-	2	0	S100A7	151697027	0.002000	0.14202	0.002000	0.10522	0.058000	0.15608	0.277000	0.18734	0.211000	0.20683	0.145000	0.16022	AAG			0.418	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036789.1		NM_002963		C	153430403	T	C	153430403	3	2	52	1	0	0	0	0	1	0	0	0	13806	1609	56	4	124	4	S100A7	1	153430403	Missense_Mutation	SNP	T	TCGA-2G-AAHL-01A-11D-A42Y-10	59831108	153430403	95820218	5	3673											
OPN3	23596	mdanderson.org	37	chr1	241803223	241803223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcccacacgcagcccaCggtgtcccacacccagccgt	7	4	8	22	4	0	0	0	0	0	0	2	0	2	0	6	1	2	1	6	1	0	0			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr1:241803223C>T	ENST00000366554.2	-	1	440	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	OPN3_ENST00000331838.5_Missense_Mutation_p.V112M|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	112					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACGCAGCCCACGGTGTCCCAC	0.637																																					p.V112M													.	.			0			c.G334A												26	26	26					1																	241803223		2202	4297	6499	SO:0001583	missense	23596	exon1			AGCCCACGGTGTC	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.334G>A	1.37:g.241803223C>T	ENSP00000355512:p.Val112Met		66	0	0		51	0.06	3	NM_014322	4	0	0	Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977204	0.74360	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.73363	-0.74;-0.74	4.92	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.155370	0.42682	D	0.000672	T	0.61375	0.2342	L	0.28694	0.88	0.09310	N	0.999998	D	0.59357	0.985	P	0.45794	0.493	T	0.54918	-0.8221	10	0.46703	T	0.11	.	5.9875	0.19442	0.1489:0.6831:0.0:0.1681	.	112	Q9H1Y3	OPN3_HUMAN	M	112	ENSP00000355512:V112M;ENSP00000328018:V112M	ENSP00000328018:V112M	V	-	1	0	OPN3	239869846	0.007000	0.16637	0.980000	0.43619	0.999000	0.98932	0.557000	0.23454	1.263000	0.44181	0.650000	0.86243	GTG			0.637	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095713.1		NM_014322		T	241803223	C	T	241803223	3	4	52	1	0	0	0	0	1	0	0	0	10898	536	19	1	890	1	OPN3	1	241803223	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	88372820	241803223	7447398	6	3674											
EIF5B	9669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	99992927	99992927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaggagggagaaaGtgaaggcagtgaaggtgatg	15	4	21	1	0	0	5	0	3	0	2	0	9	0	8	0	6	0	1	0	6	4	0			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr2:99992927G>A	ENST00000289371.6	+	10	1872	c.1670G>A	c.(1669-1671)aGt>aAt	p.S557N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	557	Asp/Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						gagggagaaAGTGAAGGCAGT	0.418																																					p.S557N	Colon(162;2388 2567 2705 3444)												.	.			0			c.G1670A												68	70	69					2																	99992927		2121	4224	6345	SO:0001583	missense	9669	exon10			GAGAAAGTGAAGG	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1670G>A	2.37:g.99992927G>A	ENSP00000289371:p.Ser557Asn		100	0	0		120	0.18	21	NM_015904	228	0.24	55	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628005	0.46944	.	.	ENSG00000158417	ENST00000289371	T	0.48836	0.8	6.17	6.17	0.99709	.	.	.	.	.	T	0.49218	0.1544	L	0.47716	1.5	0.41935	D	0.990584	D	0.53151	0.958	P	0.44447	0.45	T	0.37103	-0.9720	8	.	.	.	-3.2603	20.8794	0.99867	0.0:0.0:1.0:0.0	.	557	O60841	IF2P_HUMAN	N	557	ENSP00000289371:S557N	.	S	+	2	0	EIF5B	99359359	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.438000	0.73426	2.941000	0.99782	0.655000	0.94253	AGT			0.418	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330364.2		NM_015904		A	99992927	G	A	99992927	3	1	52	1	0	0	0	0	1	0	0	0	5051	1029	36	3	1708	3	EIF5B	2	99992927	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		99992927	143206446	7	3675											
FARP2	9855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	242350476	242350476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgccttgcaacttaagagaGacctgctggaagagcgtttg	10	11	12	8	1	0	3	0	0	0	3	0	5	0	4	2	1	5	3	2	1	3	4			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr2:242350476G>C	ENST00000264042.3	+	6	609	c.439G>C	c.(439-441)Gac>Cac	p.D147H	FARP2_ENST00000373287.4_Missense_Mutation_p.D147H|FARP2_ENST00000545004.1_Missense_Mutation_p.D147H	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	147	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACTTAAGAGAGACCTGCTGGA	0.483																																					p.D147H													.	.			0			c.G439C												115	99	105					2																	242350476		2203	4300	6503	SO:0001583	missense	9855	exon6			AAGAGAGACCTGC	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.439G>C	2.37:g.242350476G>C	ENSP00000264042:p.Asp147His		78	0	0		52	0.21	11	NM_014808	2	0.5	1	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843557	0.91197	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;T	0.80824	-1.42;-1.42;-1.42	5.44	5.44	0.79542	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.166539	0.51477	D	0.000084	D	0.94095	0.8107	H	0.97806	4.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.969;0.996;0.97	D	0.96104	0.9071	10	0.87932	D	0	.	19.2455	0.93901	0.0:0.0:1.0:0.0	.	147;147;147	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	H	147	ENSP00000264042:D147H;ENSP00000443876:D147H;ENSP00000362384:D147H	ENSP00000264042:D147H	D	+	1	0	FARP2	241999149	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.642000	0.91036	2.544000	0.85801	0.655000	0.94253	GAC			0.483	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323153.1				C	242350476	G	C	242350476	3	2	52	1	0	0	0	0	1	0	0	0	5690	942	33	5	457	5	FARP2	2	242350476	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	142357549	242350476	848897	8	3676											
CPNE9	151835	mdanderson.org	37	chr3	9754683	9754683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatctgccacaagacagaGgttgtgaaaaacacgctgaa	16	6	9	10	1	1	4	0	2	1	2	1	4	1	4	2	1	2	2	2	1	4	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr3:9754683G>T	ENST00000383832.3	+	10	760	c.570G>T	c.(568-570)gaG>gaT	p.E190D	CPNE9_ENST00000383831.3_Missense_Mutation_p.E190D	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	190	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					ACAAGACAGAGGTTGTGAAAA	0.522																																					.													.	.			0			.												42	42	42					3																	9754683		2022	4215	6237	SO:0001583	missense	151835	.			GACAGAGGTTGTG		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.570G>T	3.37:g.9754683G>T	ENSP00000373343:p.Glu190Asp		68	0	0		39	0.08	3	.	9	0	0	A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982026	0.74474	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.70399	-0.48;-0.48	4.92	1.13	0.20643	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.78637	2.42	0.40942	D	0.984471	P	0.40000	0.698	B	0.40940	0.344	T	0.69000	-0.5261	10	0.66056	D	0.02	.	9.1363	0.36877	0.3016:0.0:0.6984:0.0	.	190	Q8IYJ1	CPNE9_HUMAN	D	190	ENSP00000373343:E190D;ENSP00000373342:E190D	ENSP00000373342:E190D	E	+	3	2	CPNE9	9729683	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	0.967000	0.29344	0.160000	0.19432	0.491000	0.48974	GAG			0.522	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250205.4		NM_001033755		T	9754683	G	T	9754683	3	4	52	1	0	0	0	0	1	0	0	0	3821	991	35	3	604	3	CPNE9	3	9754683	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		9754683	188267747	9	3677											
DCLK3	85443	mdanderson.org	37	chr3	36779310	36779310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttctcaaagcccgcctGgtgctctctcaggagccagc	7	8	11	15	1	3	0	2	0	2	0	5	2	3	1	3	2	5	2	3	2	1	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr3:36779310G>T	ENST00000416516.2	-	2	1331	c.841C>A	c.(841-843)Cag>Aag	p.Q281K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	281						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGCCCGCCTGGTGCTCTCTC	0.572																																					p.Q281K													.	.			0			c.C841A												91	96	95					3																	36779310		1926	4121	6047	SO:0001583	missense	85443	exon2			CCGCCTGGTGCTC	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.841C>A	3.37:g.36779310G>T	ENSP00000394484:p.Gln281Lys		73	0	0		46	0.07	3	NM_033403	5	0	0		Missense_Mutation	SNP	ENST00000416516.2	37	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267774	0.23136	.	.	ENSG00000163673	ENST00000416516	T	0.66280	-0.2	5.48	5.48	0.80851	.	0.285397	0.19062	N	0.123741	T	0.47154	0.1430	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.19095	-1.0316	10	0.02654	T	1	.	19.3606	0.94436	0.0:0.0:1.0:0.0	.	281	Q9C098	DCLK3_HUMAN	K	281	ENSP00000394484:Q281K	ENSP00000394484:Q281K	Q	-	1	0	DCLK3	36754314	0.053000	0.20554	0.029000	0.17559	0.437000	0.31866	2.501000	0.45389	2.746000	0.94184	0.655000	0.94253	CAG			0.572	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341727.1		XM_047355		T	36779310	G	T	36779310	3	4	52	1	0	0	0	0	1	0	0	0	4295	1357	47	3	1121	3	DCLK3	3	36779310	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	27024627	36779310	161243120	10	3678											
GPR87	53836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	151012124	151012124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggcaaacattacacgCagacaagaaaagtgtaattt	18	8	7	8	1	0	2	0	0	0	2	1	2	1	2	1	1	2	3	1	1	6	3			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr3:151012124C>G	ENST00000260843.4	-	3	1374	c.910G>C	c.(910-912)Gcg>Ccg	p.A304P	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	304					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)			ACATTACACGCAGACAAGAAA	0.338																																					p.A304P													GPR87,colon,carcinoma,+1,1	GPR87	1	1	0			c.G910C												111	114	113					3																	151012124		2203	4300	6503	SO:0001583	missense	53836	exon3			TACACGCAGACAA	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.910G>C	3.37:g.151012124C>G	ENSP00000260843:p.Ala304Pro		246	0.0081300813	2		133	0.3	40	NM_023915	0		0	Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095795	0.76870	.	.	ENSG00000138271	ENST00000260843	T	0.32023	1.47	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	M	0.88241	2.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.67971	-0.5532	10	0.51188	T	0.08	-11.3655	19.2508	0.93925	0.0:1.0:0.0:0.0	.	304	Q9BY21	GPR87_HUMAN	P	304	ENSP00000260843:A304P	ENSP00000260843:A304P	A	-	1	0	GPR87	152494814	0.963000	0.33076	0.984000	0.44739	0.956000	0.61745	2.285000	0.43487	2.719000	0.93026	0.655000	0.94253	GCG			0.338	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357788.1				G	151012124	C	G	151012124	3	3	52	1	0	0	0	0	1	0	0	0	6730	710	25	5	170	5	GPR87	3	151012124	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	114232814	151012124	47010306	11	3679											
WFS1	7466	mdanderson.org	37	chr4	6293696	6293696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcagaagcagaggcgCatgctggagcgcctggtcag	8	6	15	12	2	1	2	1	0	0	2	2	3	2	3	2	3	4	4	2	3	1	0	rs1801213	byFrequency	TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr4:6293696C>T	ENST00000226760.1	+	6	854	c.684C>T	c.(682-684)cgC>cgT	p.R228R	WFS1_ENST00000503569.1_Silent_p.R228R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	228					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)		AGCAGAGGCGCATGCTGGAGC	0.642																																					p.R228R													WFS1,NS,carcinoma,0,1	WFS1	0	1	0			c.C684T												47	40	42					4																	6293696		2196	4299	6495	SO:0001819	synonymous_variant	7466	exon6			GAGGCGCATGCTG	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.684C>T	4.37:g.6293696C>T			199	0	0		120	0.03	3	NM_006005	13	0	0	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232779	0.58777	.	.	ENSG00000109501	ENST00000506362	.	.	.	4.37	1.53	0.23141	.	.	.	.	.	T	0.54303	0.1850	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41928	-0.9481	4	.	.	.	-44.9845	6.9398	0.24486	0.2177:0.2494:0.5329:0.0	.	.	.	.	V	94	.	.	A	+	2	0	WFS1	6344597	0.811000	0.29063	0.994000	0.49952	0.974000	0.67602	-0.097000	0.11042	0.069000	0.16605	-0.216000	0.12614	GCA			0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206863.1				T	6293696	C	T	6293696	2	4	52	1	0	0	0	0	0	0	0	1	17384	697	25	2		2	WFS1	4	6293696	Silent	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10		6293696	184860580	12	3680											
KLB	152831	mdanderson.org	37	chr4	39448478	39448478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaacgacacctacggggCggcgcacaacctgctggtgg	8	5	15	13	4	0	0	0	0	0	0	0	1	0	0	2	6	4	3	2	6	3	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr4:39448478C>T	ENST00000257408.4	+	4	2229	c.2132C>T	c.(2131-2133)gCg>gTg	p.A711V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	711	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACCTACGGGGCGGCGCACAAC	0.662																																					p.A711V													.	.			0			c.C2132T												48	52	51					4																	39448478		2203	4300	6503	SO:0001583	missense	152831	exon4			ACGGGGCGGCGCA	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2132C>T	4.37:g.39448478C>T	ENSP00000257408:p.Ala711Val		22	0	0		16	0.13	2	NM_175737	2	0	0	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909084	0.52439	.	.	ENSG00000134962	ENST00000257408	T	0.31769	1.48	5.75	5.75	0.90469	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	L	0.33710	1.025	0.45427	D	0.998407	D;D	0.76494	0.999;0.999	D;D	0.66602	0.945;0.945	T	0.05451	-1.0884	10	0.07325	T	0.83	-17.652	19.9358	0.97142	0.0:1.0:0.0:0.0	.	702;711	B7ZL50;Q86Z14	.;KLOTB_HUMAN	V	711	ENSP00000257408:A711V	ENSP00000257408:A711V	A	+	2	0	KLB	39124873	1.000000	0.71417	0.899000	0.35326	0.474000	0.32979	4.509000	0.60448	2.722000	0.93159	0.491000	0.48974	GCG			0.662	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250429.1		NM_175737		T	39448478	C	T	39448478	3	4	52	1	0	0	0	0	1	0	0	0	8347	768	27	1	2146	1	KLB	4	39448478	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	33154782	39448478	151705798	13	3681											
LRRC66	339977	broad.mit.edu	37	chr4	52861480	52861480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattcattggaatcataacGgcttgagccagagacagcgt	13	10	10	8	2	2	2	2	1	0	1	2	4	2	3	1	2	3	1	1	2	3	5			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr4:52861480G>A	ENST00000343457.3	-	4	1714	c.1708C>T	c.(1708-1710)Cgt>Tgt	p.R570C		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	570						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAATCATAACGGCTTGAGCCA	0.498																																					p.R570C													.	LRRC66	128		0			c.C1708T												103	114	110					4																	52861480		2164	4289	6453	SO:0001583	missense	339977	exon4			CATAACGGCTTGA	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1708C>T	4.37:g.52861480G>A	ENSP00000341944:p.Arg570Cys		136	0.0073529412	1		263	0.02	4	NM_001024611	2	0	0		Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	6.361	0.434716	0.12045	.	.	ENSG00000188993	ENST00000343457	D	0.82081	-1.57	3.96	-1.21	0.09524	.	2.119790	0.02037	N	0.048960	T	0.70098	0.3185	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52366	-0.8585	10	0.46703	T	0.11	6.1939	2.9222	0.05772	0.1569:0.1164:0.4888:0.2378	.	570	Q68CR7	LRC66_HUMAN	C	570	ENSP00000341944:R570C	ENSP00000341944:R570C	R	-	1	0	LRRC66	52556237	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.129000	0.03244	-0.789000	0.04498	-2.403000	0.00223	CGT			0.498	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361473.1		NM_001024611		A	52861480	G	A	52861480	3	1	52	1	0	0	0	0	1	0	0	0	9034	1116	39	1	938	1	LRRC66	4	52861480	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	13413002	52861480	138292796	14	3682											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599340	55599340	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatcaagaatgattctaaTtatgtggttaaaggaaacgt	16	12	9	4	1	2	2	1	1	1	1	2	4	2	3	0	2	1	1	0	2	7	4	rs121913514		TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr4:55599340T>G	ENST00000288135.5	+	17	2563	c.2466T>G	c.(2464-2466)aaT>aaG	p.N822K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> K (in a germ cell tumor of the testis; somatic mutation). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N822K(34)|p.N822N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATTCTAATTATGTGGTTA	0.383	N822K(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.N822K			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,malignant_melanoma,+2,48	KIT	2	48	35	Substitution - Missense(34)|Substitution - coding silent(1)	soft_tissue(17)|haematopoietic_and_lymphoid_tissue(11)|skin(4)|testis(2)|genital_tract(1)	c.T2466G												149	151	151					4																	55599340		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	TTCTAATTATGTG	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2466T>G	4.37:g.55599340T>G	ENSP00000288135:p.Asn822Lys		95	0	0		131	0.78	102	NM_000222	62	0.84	52	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597891	0.66332	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82344	-1.6;-1.6	5.47	3.01	0.34805	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	0.000009	D	0.84284	0.5438	L	0.33293	1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	D	0.83792	0.0231	10	0.87932	D	0	.	8.7243	0.34460	0.0:0.2153:0.0:0.7847	.	818;822	P10721-2;P10721	.;KIT_HUMAN	K	822;818	ENSP00000288135:N822K;ENSP00000390987:N818K	ENSP00000288135:N822K	N	+	3	2	KIT	55294097	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.920000	0.40025	0.883000	0.36040	0.477000	0.44152	AAT			0.383	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				G	55599340	T	G	55599340	3	3	52	1	0	0	0	0	1	0	0	0	8344	1490	52	4	2532	4	KIT	4	55599340	Missense_Mutation	SNP	T	TCGA-2G-AAHL-01A-11D-A42Y-10	2737860	55599340	135554936	15	3683											
CAMK2D	817	mdanderson.org	37	chr4	114458562	114458562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctgccaatttcacagctGctcccttggatttgctagct	7	14	8	12	0	2	0	1	0	1	0	3	1	3	1	2	1	5	4	2	1	2	4			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr4:114458562G>A	ENST00000342666.5	-	7	451	c.452C>T	c.(451-453)gCa>gTa	p.A151V	CAMK2D_ENST00000296402.5_Missense_Mutation_p.A151V|CAMK2D_ENST00000394526.2_Missense_Mutation_p.A151V|CAMK2D_ENST00000454265.2_Missense_Mutation_p.A151V|CAMK2D_ENST00000394522.3_Missense_Mutation_p.A151V|CAMK2D_ENST00000511664.1_Missense_Mutation_p.A151V|CAMK2D_ENST00000515496.1_Missense_Mutation_p.A151V|CAMK2D_ENST00000379773.2_Missense_Mutation_p.A151V|CAMK2D_ENST00000508738.1_Missense_Mutation_p.A151V|CAMK2D_ENST00000514328.1_Missense_Mutation_p.A151V|CAMK2D_ENST00000418639.2_Missense_Mutation_p.A151V|CAMK2D_ENST00000505990.1_Missense_Mutation_p.A151V|CAMK2D_ENST00000429180.1_Missense_Mutation_p.A151V|CAMK2D_ENST00000394524.3_Missense_Mutation_p.A151V			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|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 the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTTCACAGCTGCTCCCTTGGA	0.428																																					p.A151V													.	.			0			c.C452T												89	86	87					4																	114458562		2203	4300	6503	SO:0001583	missense	817	exon7			ACAGCTGCTCCCT	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.452C>T	4.37:g.114458562G>A	ENSP00000339740:p.Ala151Val		96	0.0104166667	1		51	0.06	3	NM_172115	0		0	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520067	0.96416	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.28;-0.3;-0.27;-0.27;-0.35;-0.33;-0.34;-0.27;-0.34;-0.34;-0.33;-0.35;-0.35	5.9	5.9	0.94986	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	0.78027	0.4219	L	0.41710	1.295	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;0.998	T	0.78542	-0.2164	10	0.87932	D	0	.	20.2626	0.98452	0.0:0.0:1.0:0.0	.	151;151;151;151;151	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	V	151	ENSP00000378032:A151V;ENSP00000415248:A151V;ENSP00000415707:A151V;ENSP00000406131:A151V;ENSP00000378034:A151V;ENSP00000296402:A151V;ENSP00000425824:A151V;ENSP00000339740:A151V;ENSP00000423482:A151V;ENSP00000423677:A151V;ENSP00000378030:A151V;ENSP00000424245:A151V;ENSP00000369098:A151V;ENSP00000422566:A151V	ENSP00000296402:A151V	A	-	2	0	CAMK2D	114678011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.802000	0.96397	0.650000	0.86243	GCA			0.428	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256420.2				A	114458562	G	A	114458562	3	1	52	1	0	0	0	0	1	0	0	0	2603	1319	46	2	1190	2	CAMK2D	4	114458562	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	58859222	114458562	76695714	16	3684											
PALLD	23022	broad.mit.edu	37	chr4	169632802	169632802	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttccaacactttccaccTccccctccaatcttggagac	9	10	3	19	0	1	1	0	0	1	1	5	2	5	1	6	1	1	0	6	1	2	3	rs370282753		TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr4:169632802T>C	ENST00000505667.1	+	10	1865	c.1692T>C	c.(1690-1692)ccT>ccC	p.P564P	PALLD_ENST00000335742.7_Silent_p.P182P|PALLD_ENST00000261509.6_Silent_p.P564P|PALLD_ENST00000512127.1_Silent_p.P182P			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	564	Interaction with VASP. {ECO:0000250}.|Poly-Pro.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ACTTTCCACCTCCCCCTCCAA	0.478									Pancreatic Cancer, Familial Clustering of																												p.P564P	Esophageal Squamous(109;1482 1532 18347 40239 51172)												.	PALLD	179		0			c.T1692C							T	,,	0,4406		0,0,2203	90	81	84		1692,546,1692	0.7	1	4		84	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PALLD	NM_001166108.1,NM_001166109.1,NM_016081.3	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	564/1124,182/778,564/1107	169632802	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23022	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	TCCACCTCCCCCT	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1692T>C	4.37:g.169632802T>C			323	0.0030959752	1		214	0.03	6	NM_001166108	2	0	0	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																					0.478	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000363762.1		NM_016081		C	169632802	T	C	169632802	2	2	52	1	0	0	0	0	0	0	0	1	11424	1538	54	4		4	PALLD	4	169632802	Silent	SNP	T	TCGA-2G-AAHL-01A-11D-A42Y-10	55174240	169632802	21521474	17	3685											
MIER3	166968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	56219619	56219619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaagcatttaccgtcccaCccaaagcttctgtttcatct	9	13	5	14	1	3	1	1	1	2	0	4	1	4	1	3	0	3	3	3	0	3	4	rs375553373		TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr5:56219619C>G	ENST00000381199.3	-	12	1104	c.1094G>C	c.(1093-1095)gGt>gCt	p.G365A	MIER3_ENST00000409421.1_Missense_Mutation_p.G302A|MIER3_ENST00000381213.3_Missense_Mutation_p.G364A|MIER3_ENST00000381226.3_Missense_Mutation_p.G370A|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TACCGTCCCACCCAAAGCTTC	0.403																																					p.G364A													.	.			0			c.G1091C												149	146	147					5																	56219619		2203	4300	6503	SO:0001583	missense	166968	exon12			GTCCCACCCAAAG	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1094G>C	5.37:g.56219619C>G	ENSP00000370596:p.Gly365Ala		265	0	0		172	0.31	54	NM_152622	4	0.25	1	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	C	17.50	3.404331	0.62288	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.98	5.98	0.97165	.	0.387579	0.31082	N	0.008289	T	0.49677	0.1571	L	0.41710	1.295	0.52501	D	0.999955	B;B;B	0.29162	0.024;0.165;0.235	B;B;B	0.27380	0.005;0.069;0.079	T	0.46555	-0.9183	10	0.66056	D	0.02	-16.2893	20.4496	0.99125	0.0:1.0:0.0:0.0	.	365;370;364	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	A	370;364;365;302	ENSP00000370624:G370A;ENSP00000370611:G364A;ENSP00000370596:G365A;ENSP00000386584:G302A	ENSP00000370596:G365A	G	-	2	0	MIER3	56255376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.326000	0.72905	2.838000	0.97847	0.563000	0.77884	GGT			0.403	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000132523.2		NM_152622		G	56219619	C	G	56219619	3	3	52	1	0	0	0	0	1	0	0	0	9598	507	18	5	566	5	MIER3	5	56219619	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10		56219619	124695641	18	3686											
PRRC1	133619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	126869374	126869374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtaaaagttgctgctGtccgagatgccttccaggag	12	9	12	8	1	0	2	0	0	0	2	2	4	2	3	3	1	3	4	3	1	4	3			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr5:126869374G>C	ENST00000296666.8	+	6	1005	c.817G>C	c.(817-819)Gtc>Ctc	p.V273L	PRRC1_ENST00000512635.2_Missense_Mutation_p.V273L|PRRC1_ENST00000442138.2_Missense_Mutation_p.V273L	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	273						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)		AGTTGCTGCTGTCCGAGATGC	0.428																																					p.V273L													.	.			0			c.G817C												117	117	117					5																	126869374		2203	4300	6503	SO:0001583	missense	133619	exon6			GCTGCTGTCCGAG	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.817G>C	5.37:g.126869374G>C	ENSP00000296666:p.Val273Leu		143	0	0		103	0.21	22	NM_130809	16	0.19	3	Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413756	0.62511	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000414018;ENST00000512635;ENST00000512535	.	.	.	5.24	3.47	0.39725	.	0.121139	0.56097	D	0.000038	T	0.55561	0.1928	M	0.61703	1.905	0.51233	D	0.99991	P;P	0.41848	0.737;0.763	B;B	0.43225	0.412;0.329	T	0.57266	-0.7841	9	0.72032	D	0.01	-8.7957	8.5772	0.33605	0.2569:0.0:0.7431:0.0	.	273;273	Q96M27;Q96M27-5	PRRC1_HUMAN;.	L	273	.	ENSP00000296666:V273L	V	+	1	0	PRRC1	126897273	0.997000	0.39634	0.994000	0.49952	0.998000	0.95712	2.561000	0.45905	0.787000	0.33731	0.563000	0.77884	GTC			0.428	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250971.3		NM_130809		C	126869374	G	C	126869374	3	2	52	1	0	0	0	0	1	0	0	0	12624	1377	48	5	835	5	PRRC1	5	126869374	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	70649755	126869374	54045886	19	3687											
NSD1	64324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176638277	176638277	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaggttttggtttcaggAggctccacacacaattcaga	11	12	9	9	0	3	1	2	0	1	1	4	2	4	2	1	4	0	3	1	4	2	5			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr5:176638277A>T	ENST00000439151.2	+	5	2922	c.2877A>T	c.(2875-2877)ggA>ggT	p.G959G	NSD1_ENST00000354179.4_Silent_p.G690G|NSD1_ENST00000347982.4_Silent_p.G690G|NSD1_ENST00000361032.4_Silent_p.G856G	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	959					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)		TGGTTTCAGGAGGCTCCACAC	0.507			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.G959G				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.			0			c.A2877T												65	64	64					5																	176638277		2203	4300	6503	SO:0001819	synonymous_variant	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	TTCAGGAGGCTCC	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.2877A>T	5.37:g.176638277A>T			226	0	0		168	0.3	50	NM_022455	1	1	1	Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																					0.507	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253412.2		NM_172349		T	176638277	A	T	176638277	2	4	52	1	0	0	0	0	0	0	0	1	10686	291	11	5		5	NSD1	5	176638277	Silent	SNP	A	TCGA-2G-AAHL-01A-11D-A42Y-10	49768903	176638277	4276983	20	3688											
MUC21	394263	mdanderson.org	37	chr6	30954594	30954594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagccaccaactctgaGtccagaacgacctccaatgg	13	5	8	15	1	1	2	0	1	1	1	3	3	3	2	5	1	4	1	5	1	3	0			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr6:30954594G>C	ENST00000376296.3	+	2	883	c.642G>C	c.(640-642)gaG>gaC	p.E214D	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	214	28 X 15 AA approximate tandem repeats.|Ser-rich.				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						CCAACTCTGAGTCCAGAACGA	0.612																																					p.E214D													.	.			0			c.G642C												154	152	153					6																	30954594		2203	4300	6503	SO:0001583	missense	394263	exon2			CTCTGAGTCCAGA	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.642G>C	6.37:g.30954594G>C	ENSP00000365473:p.Glu214Asp		65	0	0		45	0.07	3	NM_001010909	18	0	0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	3.066	-0.192132	0.06299	.	.	ENSG00000204544	ENST00000376296	T	0.01787	4.64	3.54	-7.08	0.01558	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.43196	-0.9406	8	.	.	.	.	10.9515	0.47332	0.1259:0.5078:0.3663:0.0	.	214	Q5SSG8	MUC21_HUMAN	D	214	ENSP00000365473:E214D	.	E	+	3	2	MUC21	31062573	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.756000	0.04777	-2.750000	0.00375	-0.349000	0.07799	GAG			0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909		C	30954594	G	C	30954594	3	2	52	1	0	0	0	0	1	0	0	0	9993	1020	36	5	648	5	MUC21	6	30954594	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		30954594	140160473	21	3689											
TNXB	7148	broad.mit.edu	37	chr6	32012870	32012870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagggggtgctgggctccaGgcctgagatgaggatcttgc	6	9	18	8	0	1	2	0	2	1	1	2	4	2	3	2	5	2	3	2	5	1	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr6:32012870G>T	ENST00000375244.3	-	32	11041	c.10840C>A	c.(10840-10842)Ctg>Atg	p.L3614M	TNXB_ENST00000451343.1_Missense_Mutation_p.L43M|TNXB_ENST00000375247.2_Missense_Mutation_p.L3612M			P22105	TENX_HUMAN	tenascin XB	3659	Fibronectin type-III 28. {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						CTGGGCTCCAGGCCTGAGATG	0.642																																					p.L3612M													.	TNXB	553		0			c.C10834A												41	36	38					6																	32012870		1509	2706	4215	SO:0001583	missense	7148	exon32			GCTCCAGGCCTGA	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.10840C>A	6.37:g.32012870G>T	ENSP00000364393:p.Leu3614Met		297	0.0033670034	1		301	0.02	5	NM_019105	4	0	0	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	g	25.3	4.623766	0.87460	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.38560	1.13;1.13;1.13	4.85	4.85	0.62838	.	0.000000	0.46145	D	0.000310	T	0.71151	0.3306	H	0.95402	3.665	0.40565	D	0.981242	D	0.89917	1.0	D	0.91635	0.999	T	0.80797	-0.1222	10	0.72032	D	0.01	.	16.9014	0.86114	0.0:0.0:1.0:0.0	.	3612	P22105-3	.	M	3614;43;3612	ENSP00000364393:L3614M;ENSP00000407685:L43M;ENSP00000364396:L3612M	ENSP00000364393:L3614M	L	-	1	2	TNXB	32120848	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.483000	0.53194	2.526000	0.85167	0.651000	0.88453	CTG			0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000268927.2		NM_019105		T	32012870	G	T	32012870	3	4	52	1	0	0	0	0	1	0	0	0	16369	991	35	3	3931	3	TNXB	6	32012870	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	1058276	32012870	139102197	22	3690											
RGL2	5863	mdanderson.org	37	chr6	33263293	33263293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctctcacctctgccaCgcggatccacttctccagga	6	11	6	18	2	4	0	1	0	4	0	8	2	5	2	4	2	1	0	4	2	0	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr6:33263293C>A	ENST00000497454.1	-	7	1507	c.1012G>T	c.(1012-1014)Gtg>Ttg	p.V338L	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.V256L|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	338	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)	p.V338L(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACCTCTGCCACGCGGATCCAC	0.617																																					p.V338L													RGL2,NS,carcinoma,0,1	RGL2	0	1	1	Substitution - Missense(1)	lung(1)	c.G1012T												47	48	48					6																	33263293		2203	4300	6503	SO:0001583	missense	5863	exon7			CTGCCACGCGGAT		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.1012G>T	6.37:g.33263293C>A	ENSP00000420211:p.Val338Leu		60	0	0		50	0.06	3	NM_004761	16	0	0	B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297173	0.60086	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.38401	1.14;1.14	4.91	4.91	0.64330	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.068019	0.64402	D	0.000016	T	0.45657	0.1353	M	0.64630	1.985	0.58432	D	0.999992	D;D	0.57571	0.97;0.98	D;P	0.62955	0.909;0.902	T	0.45264	-0.9273	10	0.72032	D	0.01	.	13.4774	0.61316	0.0:1.0:0.0:0.0	.	256;338	B4DG72;O15211	.;RGL2_HUMAN	L	338;202;256	ENSP00000420211:V338L;ENSP00000403070:V256L	ENSP00000400083:V202L	V	-	1	0	RGL2	33371271	1.000000	0.71417	0.958000	0.39756	0.700000	0.40528	4.869000	0.63028	2.542000	0.85734	0.643000	0.83706	GTG			0.617	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076098.2				A	33263293	C	A	33263293	3	1	52	1	0	0	0	0	1	0	0	0	13300	536	19	1	1369	1	RGL2	6	33263293	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	1250423	33263293	137851774	23	3691											
TOMM6	100188893	mdanderson.org	37	chr6	41756999	41756999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actaaatttgggactctttgCtgcgggagtttggctggcca	7	13	13	8	1	1	0	0	0	1	0	1	2	1	2	1	4	2	3	1	4	2	4			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr6:41756999C>T	ENST00000398884.3	+	2	194	c.158C>T	c.(157-159)gCt>gTt	p.A53V	RP11-298J23.9_ENST00000594586.1_RNA|TOMM6_ENST00000398881.3_Missense_Mutation_p.A53V	NM_001134493.1	NP_001127965.1	Q96B49	TOM6_HUMAN	translocase of outer mitochondrial membrane 6 homolog (yeast)	53					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)											GGACTCTTTGCTGCGGGAGTT	0.473																																					p.A53V													.	.			0			c.C158T												129	106	113					6																	41756999		692	1591	2283	SO:0001583	missense	100188893	exon2			TCTTTGCTGCGGG	AF216754	CCDS47424.1	6p21.1	2010-08-05			ENSG00000214736	ENSG00000214736			34528	protein-coding gene	gene with protein product	"over-expressed breast tumor protein"					18331822	Standard	NM_001134493		Approved	OBTP	uc011dug.1	Q96B49	OTTHUMG00000137505	ENST00000398884.3:c.158C>T	6.37:g.41756999C>T	ENSP00000381859:p.Ala53Val		72	0	0		74	0.05	4	NM_001134493	2481	0	2	B2DG15|Q9UH52	Missense_Mutation	SNP	ENST00000398884.3	37	CCDS47424.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919178	0.73098	.	.	ENSG00000214736	ENST00000398884;ENST00000398881	.	.	.	6.17	6.17	0.99709	.	0.000000	0.43747	U	0.000528	T	0.77519	0.4142	.	.	.	0.43977	D	0.996663	D	0.76494	0.999	D	0.83275	0.996	T	0.76586	-0.2905	8	0.54805	T	0.06	-9.6377	18.6524	0.91435	0.0:1.0:0.0:0.0	.	53	Q96B49	TOM6_HUMAN	V	53	.	ENSP00000381856:A53V	A	+	2	0	TOMM6	41864977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.102000	0.64572	2.941000	0.99782	0.655000	0.94253	GCT			0.473	TOMM6-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268822.1				T	41756999	C	T	41756999	3	4	52	1	0	0	0	0	1	0	0	0	16384	797	28	2	164	2	TOMM6	6	41756999	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	8493706	41756999	129358068	24	3692											
GRM1	2911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	146720361	146720361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccctgatcatcatggaacCccctatgcccattctgtcct	9	11	5	16	0	3	1	2	1	1	0	4	2	4	2	5	1	3	0	5	1	3	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr6:146720361C>G	ENST00000282753.1	+	7	2421	c.2186C>G	c.(2185-2187)cCc>cGc	p.P729R	GRM1_ENST00000392299.2_Missense_Mutation_p.P729R|GRM1_ENST00000507907.1_Missense_Mutation_p.P729R|GRM1_ENST00000361719.2_Missense_Mutation_p.P729R|GRM1_ENST00000492807.2_Missense_Mutation_p.P729R|GRM1_ENST00000355289.4_Missense_Mutation_p.P729R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	729					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)		ATCATGGAACCCCCTATGCCC	0.517																																					p.P729R													GRM1,leg,malignant_melanoma,-1,1	GRM1	-1	1	0			c.C2186G												118	114	115					6																	146720361		2203	4300	6503	SO:0001583	missense	2911	exon8			TGGAACCCCCTAT	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.2186C>G	6.37:g.146720361C>G	ENSP00000282753:p.Pro729Arg		221	0	0		167	0.13	22	NM_000838	0		0	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260178	0.59321	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95456	0.8524	M	0.89785	3.06	0.80722	D	1	D;D;P	0.89917	0.964;1.0;0.802	P;D;P	0.97110	0.477;1.0;0.477	D	0.95841	0.8866	10	0.87932	D	0	.	19.4081	0.94656	0.0:1.0:0.0:0.0	.	729;729;729	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	729	ENSP00000354896:P729R;ENSP00000376119:P729R;ENSP00000424095:P729R;ENSP00000282753:P729R;ENSP00000347437:P729R;ENSP00000425599:P729R	ENSP00000282753:P729R	P	+	2	0	GRM1	146762054	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.920000	0.70017	2.604000	0.88044	0.585000	0.79938	CCC			0.517	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042574.1		NM_000838		G	146720361	C	G	146720361	3	3	52	1	0	0	0	0	1	0	0	0	6811	623	22	5	2212	5	GRM1	6	146720361	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	104963362	146720361	24394706	25	3693											
GATAD1	57798	mdanderson.org	37	chr7	92077209	92077209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagggactgggggcagcGgcggcggcggcttcggcgcg	3	4	23	11	7	0	0	0	0	0	0	1	2	0	2	0	9	1	2	0	9	0	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr7:92077209G>A	ENST00000287957.3	+	1	443	c.166G>A	c.(166-168)Ggc>Agc	p.G56S		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	56	Gly-rich.					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)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			tgggggcagcggcggcggcgg	0.786																																					p.G56S													.	.			0			c.G166A												1	1	1					7																	92077209		681	1336	2017	SO:0001583	missense	57798	exon1			GGCAGCGGCGGCG		CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"GATA zinc finger domain containing"	29941	protein-coding gene	gene with protein product	"ocular development associated gene"	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.166G>A	7.37:g.92077209G>A	ENSP00000287957:p.Gly56Ser		20	0	0		23	0.13	3	NM_021167	0		0	B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	ENST00000287957.3	37	CCDS5625.1	.	.	.	.	.	.	.	.	.	.	G	4.618	0.114951	0.08831	.	.	ENSG00000157259	ENST00000287957	D	0.94457	-3.43	4.49	3.61	0.41365	.	0.509864	0.14458	N	0.318360	D	0.84000	0.5376	N	0.08118	0	0.45076	D	0.998092	B	0.14438	0.01	B	0.06405	0.002	T	0.74272	-0.3719	10	0.08179	T	0.78	-10.0547	7.2997	0.26413	0.2045:0.0:0.7954:0.0	.	56	Q8WUU5	GATD1_HUMAN	S	56	ENSP00000287957:G56S	ENSP00000287957:G56S	G	+	1	0	GATAD1	91915145	0.951000	0.32395	0.204000	0.23530	0.037000	0.13140	0.283000	0.18846	1.015000	0.39444	-0.268000	0.10319	GGC			0.786	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253929.2		NM_021167		A	92077209	G	A	92077209	3	1	52	1	0	0	0	0	1	0	0	0	6273	1116	39	1	168	1	GATAD1	7	92077209	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		92077209	67061454	26	3694											
COL1A2	1278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	94042436	94042436	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaaggtcatgctggtctTgctggtgctcgggtaggtgc	6	12	16	7	1	2	0	1	0	1	0	3	1	2	0	0	5	4	4	0	5	3	3			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr7:94042436T>C	ENST00000297268.6	+	26	2016	c.1545T>C	c.(1543-1545)ctT>ctC	p.L515L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	515					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)	ATGCTGGTCTTGCTGGTGCTC	0.363										HNSCC(75;0.22)																											p.L515L													.	.			0			c.T1545C												314	280	292					7																	94042436		2203	4300	6503	SO:0001819	synonymous_variant	1278	exon26			TGGTCTTGCTGGT	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.1545T>C	7.37:g.94042436T>C			239	0	0		238	0.22	53	NM_000089	91	0.04	4	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	CCDS34682.1																																																																																					0.363	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000309045.2		NM_000089		C	94042436	T	C	94042436	2	2	52	1	0	0	0	0	0	0	0	1	3680	1799	63	4		4	COL1A2	7	94042436	Silent	SNP	T	TCGA-2G-AAHL-01A-11D-A42Y-10	1965227	94042436	65096227	27	3695											
ABCF2	10061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150921079	150921079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgctctgtgtcgacttcCatcacacaatgcaagggtgt	8	10	10	13	2	2	0	1	0	1	0	4	1	3	0	2	1	1	2	2	1	2	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr7:150921079C>T	ENST00000287844.2	-	4	598	c.489G>A	c.(487-489)atG>atA	p.M163I	ABCF2_ENST00000222388.2_Missense_Mutation_p.M163I|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	163	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCGACTTCCATCACACAAT	0.582																																					p.M163I													.	.			0			c.G489A												118	101	106					7																	150921079		2203	4300	6503	SO:0001583	missense	10061	exon4			GACTTCCATCACA	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.489G>A	7.37:g.150921079C>T	ENSP00000287844:p.Met163Ile		101	0	0		94	0.15	14	NM_005692	80	0.31	25	O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249623	0.59212	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;T;T	0.91124	-2.74;-2.79;3.94;3.94	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	N	0.17564	0.495	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.21360	0.034;0.034	T	0.78324	-0.2248	10	0.29301	T	0.29	-0.0301	19.0707	0.93134	0.0:1.0:0.0:0.0	.	163;163	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	I	163	ENSP00000222388:M163I;ENSP00000287844:M163I;ENSP00000419720:M163I;ENSP00000395785:M163I	ENSP00000222388:M163I	M	-	3	0	ABCF2	150552012	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.549000	0.82163	2.746000	0.94184	0.655000	0.94253	ATG			0.582	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336086.1		NM_005692		T	150921079	C	T	150921079	3	4	52	1	0	0	0	0	1	0	0	0	66	594	21	3	1471	3	ABCF2	7	150921079	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	56878643	150921079	8217584	28	3696											
LEPROTL1	23484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	29963269	29963269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatttccatagattgagtGgggagcttgtgcacttgttc	7	16	11	7	0	0	2	0	1	0	1	2	3	1	3	1	2	2	3	1	2	2	7	rs371805932		TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr8:29963269G>T	ENST00000321250.8	+	4	402	c.287G>T	c.(286-288)tGg>tTg	p.W96L	LEPROTL1_ENST00000523116.1_Intron|LEPROTL1_ENST00000518001.1_Missense_Mutation_p.W35L|LEPROTL1_ENST00000442880.2_Intron|LEPROTL1_ENST00000518192.1_Missense_Mutation_p.W119L	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	96						integral component of membrane (GO:0016021)		p.A98fs*27(1)		endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TAGATTGAGTGGGGAGCTTGT	0.388																																					p.W96L													.	.			1	Insertion - Frameshift(1)	large_intestine(1)	c.G287T							G	,LEU/TRP	0,4406		0,0,2203	139	130	133		,287	4.8	1	8		133	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	LEPROTL1	NM_001128208.1,NM_015344.2	,61	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	,96/132	29963269	1,13005	2203	4300	6503	SO:0001583	missense	23484	exon4			TTGAGTGGGGAGC	AF063605	CCDS6075.1, CCDS47834.1	8p12	2014-09-11			ENSG00000104660	ENSG00000104660			6555	protein-coding gene	gene with protein product		607338				11342119	Standard	NM_015344		Approved	my047, Vps55	uc003xhx.2	O95214	OTTHUMG00000163820	ENST00000321250.8:c.287G>T	8.37:g.29963269G>T	ENSP00000314625:p.Trp96Leu		89	0	0		88	0.1	9	NM_015344	140	0.19	27	E9PHP8|Q9BW48	Missense_Mutation	SNP	ENST00000321250.8	37	CCDS6075.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252087	0.39797	0.0	1.16E-4	ENSG00000104660	ENST00000321250;ENST00000518001;ENST00000518192	.	.	.	5.7	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.72894	2.215	0.80722	D	1	P	0.47253	0.892	P	0.55222	0.771	T	0.75991	-0.3122	9	0.87932	D	0	.	12.4423	0.55631	0.081:0.0:0.919:0.0	.	96	O95214	LERL1_HUMAN	L	96;35;119	.	ENSP00000314625:W96L	W	+	2	0	LEPROTL1	30082811	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	9.384000	0.97219	1.411000	0.46957	0.555000	0.69702	TGG			0.388	LEPROTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375771.2				T	29963269	G	T	29963269	3	4	52	1	0	0	0	0	1	0	0	0	8748	1357	47	3	301	3	LEPROTL1	8	29963269	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		29963269	116400753	29	3697											
BAI1	575	mdanderson.org	37	chr8	143560839	143560839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggcagtgcggcacccagCggtgtcccggtgaggcccct	5	5	15	16	4	0	1	0	1	0	0	1	1	1	1	5	5	2	2	5	5	0	0			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr8:143560839C>T	ENST00000517894.1	+	8	2611	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	BAI1_ENST00000323289.5_Missense_Mutation_p.R573W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	573	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)					CGGCACCCAGCGGTGTCCCGG	0.706																																					p.R573W													.	.			0			c.C1717T												8	12	11					8																	143560839		1981	4127	6108	SO:0001583	missense	575	exon7			ACCCAGCGGTGTC	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.1717C>T	8.37:g.143560839C>T	ENSP00000430945:p.Arg573Trp		34	0	0		24	0.08	2	NM_001702	0		0		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	c	19.97	3.925435	0.73213	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.54071	0.59;0.59	4.98	2.9	0.33743	.	0.066755	0.56097	U	0.000021	T	0.69682	0.3138	M	0.83483	2.645	0.32248	N	0.571854	D	0.89917	1.0	D	0.74674	0.984	T	0.75468	-0.3307	10	0.72032	D	0.01	.	8.4895	0.33091	0.2356:0.6424:0.122:0.0	.	573	E9PBK0	.	W	573	ENSP00000430945:R573W;ENSP00000313046:R573W	ENSP00000313046:R573W	R	+	1	2	BAI1	143557841	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	2.104000	0.41815	1.053000	0.40415	0.457000	0.33378	CGG			0.706	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000379963.3		NM_001702		T	143560839	C	T	143560839	3	4	52	1	0	0	0	0	1	0	0	0	1298	759	27	1	1743	1	BAI1	8	143560839	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	113597570	143560839	2803183	30	3698											
OPLAH	26873	hgsc.bcm.edu	37	chr8	145111362	145111362	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accactgcggccggtgccccGcactcgcacatcgtccacga	7	5	10	19	6	0	0	0	0	0	0	3	1	1	0	5	2	2	2	5	2	0	0			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr8:145111362G>T	ENST00000426825.1	-	14	1990	c.1909C>A	c.(1909-1911)Cgg>Agg	p.R637R	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	637					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)			CCGGTGCCCCGCACTCGCACA	0.667																																					p.R637R													.	.			0			c.C1909A												27	33	31					8																	145111362		2028	4160	6188	SO:0001819	synonymous_variant	26873	exon14			TGCCCCGCACTCG	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.1909C>A	8.37:g.145111362G>T			92	0	0		86	0.05	4	NM_017570	5	0	0	A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37																																																																																						0.667	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_017570		T	145111362	G	T	145111362	2	4	52	1	0	0	0	0	0	0	0	1	10893	1086	38	1		1	OPLAH	8	145111362	Silent	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	1550523	145111362	1252660	31	3699											
GLIS3	169792	hgsc.bcm.edu	37	chr9	3829449	3829449	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaattctctgggaatcGgggtagtgtgggggacagaa	10	8	17	6	1	1	1	0	0	1	1	3	3	1	3	0	6	0	2	0	6	4	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr9:3829449G>T	ENST00000324333.10	-	9	2245	c.2052C>A	c.(2050-2052)ccC>ccA	p.P684P	GLIS3_ENST00000381971.3_Silent_p.P839P|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	684					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)		TCTGGGAATCGGGGTAGTGTG	0.537																																					p.P839P													GLIS3_ENST00000381971,NS,carcinoma,0,2	GLIS3_ENST00000381971	0	2	0			c.C2517A												94	79	84					9																	3829449		2203	4300	6503	SO:0001819	synonymous_variant	169792	exon10			GGAATCGGGGTAG	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.2052C>A	9.37:g.3829449G>T			131	0	0		86	0.05	4	NM_001042413	0		0	B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	CCDS6451.1																																																																																					0.537	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000051559.1		NM_152629		T	3829449	G	T	3829449	2	4	52	1	0	0	0	0	0	0	0	1	6461	1103	39	1		1	GLIS3	9	3829449	Silent	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		3829449	137383982	32	3700											
PIGO	84720	mdanderson.org	37	chr9	35091711	35091711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgggggggagcctcatctgCccccgacgccaatgcccagt	7	5	13	16	3	2	0	1	0	1	0	2	2	2	1	5	3	3	0	5	3	1	0			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr9:35091711C>T	ENST00000378617.3	-	7	2567	c.2173G>A	c.(2173-2175)Gca>Aca	p.A725T	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.A725T|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	725					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)			GCCTCATCTGCCCCCGACGCC	0.652																																					p.A725T													PIGO,face,carcinoma,+1,1	PIGO	1	1	0			c.G2173A												26	29	28					9																	35091711		2145	4203	6348	SO:0001583	missense	84720	exon7			CATCTGCCCCCGA	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.2173G>A	9.37:g.35091711C>T	ENSP00000367880:p.Ala725Thr		22	0	0		24	0.13	3	NM_032634	22	0	0	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	3.979	-0.006718	0.07773	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.55588	0.51;0.51	5.44	3.54	0.40534	.	0.184475	0.47455	D	0.000227	T	0.27419	0.0673	N	0.08118	0	0.80722	D	1	B	0.15473	0.013	B	0.11329	0.006	T	0.09640	-1.0665	10	0.13853	T	0.58	-6.1075	9.7817	0.40651	0.2347:0.6946:0.0:0.0707	.	725	Q8TEQ8	PIGO_HUMAN	T	725	ENSP00000367880:A725T;ENSP00000339382:A725T	ENSP00000339382:A725T	A	-	1	0	PIGO	35081711	0.558000	0.26554	0.888000	0.34837	0.178000	0.23041	0.942000	0.29017	2.837000	0.97791	0.655000	0.94253	GCA			0.652	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052284.1		NM_032634		T	35091711	C	T	35091711	3	4	52	1	0	0	0	0	1	0	0	0	11911	739	26	2	1116	2	PIGO	9	35091711	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	31262262	35091711	106121720	33	3701											
COL15A1	1306	mdanderson.org	37	chr9	101807052	101807052	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggagccccaggaccaatGgtaagtcagagcgtctctca	11	7	11	12	1	3	1	2	0	1	1	4	3	3	3	3	3	2	1	3	3	2	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr9:101807052G>T	ENST00000375001.3	+	26	3102	c.2679G>T	c.(2677-2679)atG>atT	p.M893I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	893	Collagen-like 4.|Triple-helical region 5 (COL5).				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)				CAGGACCAATGGTAAGTCAGA	0.443																																					p.M893I													.	.			0			c.G2679T												86	83	84					9																	101807052		2203	4300	6503	SO:0001630	splice_region_variant	1306	exon26			ACCAATGGTAAGT	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.2679+1G>T	9.37:g.101807052G>T			89	0	0		46	0.07	3	NM_001855	10	0	0	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880283	0.51801	.	.	ENSG00000204291	ENST00000375001	D	0.92545	-3.06	5.32	5.32	0.75619	C-type lectin fold (1);	0.226096	0.46442	D	0.000294	D	0.85643	0.5744	N	0.05177	-0.1	0.46113	D	0.998878	P	0.38978	0.652	B	0.44224	0.444	D	0.86181	0.1606	10	0.36615	T	0.2	-11.0523	14.5084	0.67767	0.0:0.0:1.0:0.0	.	893	P39059	COFA1_HUMAN	I	893	ENSP00000364140:M893I	ENSP00000364140:M893I	M	+	3	0	COL15A1	100846873	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.369000	0.66138	2.487000	0.83934	0.591000	0.81541	ATG			0.443	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053386.3		NM_001855	Missense_Mutation	T	101807052	G	T	101807052	5	4	52	1	0	0	0	0	0	0	1	0	3674	1362	47	3	2781	3	COL15A1	9	101807052	Splice_Site	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	66715341	101807052	39406379	34	3702											
PIP4K2A	5305	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	22830852	22830852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggttcccaccgggtgggtgCcatcgctctcgccctcctcc	2	9	12	18	3	1	0	0	0	1	0	6	0	4	0	6	3	1	2	6	3	0	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr10:22830852C>T	ENST00000376573.4	-	8	1145	c.917G>A	c.(916-918)gGc>gAc	p.G306D	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.G166D|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.G247D	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	306	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGTGGGTGCCATCGCTCTC	0.602																																					p.G306D													.	.			0			c.G917A												87	78	81					10																	22830852		2203	4300	6503	SO:0001583	missense	5305	exon8			TGGGTGCCATCGC	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.917G>A	10.37:g.22830852C>T	ENSP00000365757:p.Gly306Asp		156	0	0		126	0.05	6	NM_005028	45	0	0	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.768931	0.69878	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335	T;T;T	0.29917	1.55;1.55;1.55	6.07	6.07	0.98685	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.733633	0.14032	N	0.346049	T	0.41834	0.1176	M	0.81341	2.54	0.80722	D	1	B;B	0.14012	0.006;0.009	B;B	0.20577	0.03;0.013	T	0.45948	-0.9226	10	0.12430	T	0.62	-22.1989	20.6439	0.99570	0.0:1.0:0.0:0.0	.	166;306	B4DH09;P48426	.;PI42A_HUMAN	D	306;166;247	ENSP00000365757:G306D;ENSP00000326294:G166D;ENSP00000442098:G247D	ENSP00000326294:G166D	G	-	2	0	PIP4K2A	22870858	1.000000	0.71417	0.797000	0.32132	0.811000	0.45836	7.445000	0.80570	2.884000	0.98904	0.655000	0.94253	GGC			0.602	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047193.1		NM_005028		T	22830852	C	T	22830852	3	4	52	1	0	0	0	0	1	0	0	0	11953	739	26	2	315	2	PIP4K2A	10	22830852	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10		22830852	112703895	35	3703											
CHST3	9469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	73768085	73768085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtggcgcttcagcatGcccttcaagctggcccaggt	8	8	13	12	1	2	1	2	0	0	1	2	2	2	1	2	3	3	3	2	3	2	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr10:73768085G>A	ENST00000373115.4	+	3	1733	c.1296G>A	c.(1294-1296)atG>atA	p.M432I		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	432					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)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GCTTCAGCATGCCCTTCAAGC	0.657																																					p.M432I													.	.			0			c.G1296A												25	22	23					10																	73768085		2189	4279	6468	SO:0001583	missense	9469	exon3			CAGCATGCCCTTC	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1296G>A	10.37:g.73768085G>A	ENSP00000362207:p.Met432Ile		72	0	0		68	0.26	18	NM_004273	5	0.4	2	O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	G	8.471	0.857567	0.17106	.	.	ENSG00000122863	ENST00000373115	D	0.83591	-1.74	5.33	3.39	0.38822	Sulfotransferase domain (1);	0.099918	0.64402	N	0.000002	T	0.55970	0.1954	N	0.01352	-0.895	0.33976	D	0.647408	B	0.02656	0.0	B	0.01281	0.0	T	0.58188	-0.7680	10	0.33141	T	0.24	-38.1907	7.731	0.28788	0.1752:0.1987:0.6261:0.0	.	432	Q7LGC8	CHST3_HUMAN	I	432	ENSP00000362207:M432I	ENSP00000362207:M432I	M	+	3	0	CHST3	73438091	0.024000	0.19004	1.000000	0.80357	0.996000	0.88848	-0.145000	0.10265	1.227000	0.43598	0.462000	0.41574	ATG			0.657	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048563.1		NM_004273		A	73768085	G	A	73768085	3	1	52	1	0	0	0	0	1	0	0	0	3407	1319	46	2	1302	2	CHST3	10	73768085	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	50937233	73768085	61766662	36	3704											
DNHD1	144132	hgsc.bcm.edu;mdanderson.org	37	chr11	6569159	6569159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagcagctttctaaaccGgtcccaggttgacagtgacg	13	8	10	10	2	1	2	0	2	1	0	2	2	2	2	2	2	3	3	2	2	4	3	rs571690230		TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr11:6569159G>T	ENST00000527990.2	+	20	6794	c.6794G>T	c.(6793-6795)cGg>cTg	p.R2265L	DNHD1_ENST00000254579.6_Missense_Mutation_p.R2265L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2265					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)		TTTCTAAACCGGTCCCAGGTT	0.527																																					p.R2265L													DNHD1,colon,carcinoma,0,2	DNHD1	0	2	0			c.G6794T												74	65	68					11																	6569159		692	1591	2283	SO:0001583	missense	144132	exon22			TAAACCGGTCCCA	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.6794G>T	11.37:g.6569159G>T	ENSP00000436180:p.Arg2265Leu		66	0	0		60	0.05	3	NM_144666	15	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	8.630	0.893498	0.17613	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.26660	1.72;1.72	5.82	-11.6	0.00059	.	1.991230	0.02313	N	0.072255	T	0.10465	0.0256	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16012	-1.0417	10	0.27785	T	0.31	.	4.1364	0.10172	0.5398:0.1362:0.118:0.2061	.	2265	Q96M86	DNHD1_HUMAN	L	2265;2265;556	ENSP00000254579:R2265L;ENSP00000436180:R2265L	ENSP00000254579:R2265L	R	+	2	0	DNHD1	6525735	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.924000	0.00692	-4.432000	0.00049	-1.349000	0.01238	CGG			0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384673.2		NM_144666		T	6569159	G	T	6569159	3	4	52	1	0	0	0	0	1	0	0	0	4673	1116	39	1	6881	1	DNHD1	11	6569159	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		6569159	128437357	37	3705											
PRDM11	56981	mdanderson.org	37	chr11	45203849	45203849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgagcccaagaaactgaagGggaagcgcgacctcatcgtg	12	6	13	10	3	1	3	1	2	0	1	2	5	1	4	2	2	3	0	2	2	4	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr11:45203849G>T	ENST00000530656.1	+	3	274	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	PRDM11_ENST00000424263.2_Missense_Mutation_p.G58W|PRDM11_ENST00000263765.4_Missense_Mutation_p.G92W			Q9NQV5	PRD11_HUMAN	PR domain containing 11	92							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAAACTGAAGGGGAAGCGCGA	0.587																																					p.G58W	NSCLC(118;1511 1736 6472 36603 43224)												.	.			0			c.G172T												77	72	74					11																	45203849		2203	4299	6502	SO:0001583	missense	56981	exon3			CTGAAGGGGAAGC	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.274G>T	11.37:g.45203849G>T	ENSP00000435976:p.Gly92Trp		106	0	0		44	0.07	3	NM_001256695	0		0	Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.175457	0.78564	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000009	T	0.69169	0.3081	L	0.36672	1.1	0.42098	D	0.991323	D	0.89917	1.0	D	0.91635	0.999	T	0.73135	-0.4078	10	0.72032	D	0.01	-29.1909	18.3111	0.90200	0.0:0.0:1.0:0.0	.	92	Q9NQV5	PRD11_HUMAN	W	92;92;58;58	ENSP00000263765:G92W;ENSP00000435976:G92W;ENSP00000431898:G58W;ENSP00000394314:G58W	ENSP00000263765:G92W	G	+	1	0	PRDM11	45160425	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.658000	0.74407	2.331000	0.79229	0.491000	0.48974	GGG			0.587	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000389928.1		NM_020229		T	45203849	G	T	45203849	3	4	52	1	0	0	0	0	1	0	0	0	12472	1232	43	3	284	3	PRDM11	11	45203849	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	38634690	45203849	89802667	38	3706											
RCOR2	283248	bcgsc.ca	37	chr11	63682723	63682723	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgttgctgtagcgtgcGgggctctctgaaaggccgag	5	11	15	10	3	1	1	0	1	1	0	3	2	2	1	2	3	3	4	2	3	2	3			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr11:63682723G>T	ENST00000301459.4	-	3	579	c.192C>A	c.(190-192)ccC>ccA	p.P64P	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	64	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TGTAGCGTGCGGGGCTCTCTG	0.622																																					p.P64P													.	RCOR2	43		0			c.C192A																																									SO:0001819	synonymous_variant	283248	exon3			GCGTGCGGGGCTC	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.192C>A	11.37:g.63682723G>T			91	0	0		47	0.09	4	NM_173587	52	0	0	Q96FP3	Silent	SNP	ENST00000301459.4	37	CCDS8052.1																																																																																					0.622	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318233.1		NM_173587		T	63682723	G	T	63682723	2	4	52	1	0	0	0	0	0	0	0	1	13206	1103	39	1		1	RCOR2	11	63682723	Silent	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	18478874	63682723	71323793	39	3707											
TYR	7299	mdanderson.org	37	chr11	88961033	88961033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatagcggatgcctctcaaaGcagcatgcacaatgccttgc	11	8	10	12	1	1	0	1	0	1	0	2	2	1	1	2	1	7	3	2	1	3	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr11:88961033G>T	ENST00000263321.5	+	3	1581	c.1079G>T	c.(1078-1080)aGc>aTc	p.S360I		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	360					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)	GCCTCTCAAAGCAGCATGCAC	0.388																																					p.S360I													.	.			0			c.G1079T												146	120	129					11																	88961033		2201	4298	6499	SO:0001583	missense	7299	exon3			CTCAAAGCAGCAT	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.1079G>T	11.37:g.88961033G>T	ENSP00000263321:p.Ser360Ile		100	0	0		42	0.07	3	NM_000372	0		0	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370055	0.82573	.	.	ENSG00000077498	ENST00000263321	D	0.98792	-5.14	5.07	5.07	0.68467	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.179257	0.64402	D	0.000014	D	0.99102	0.9691	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99597	1.0977	9	.	.	.	.	18.43	0.90622	0.0:0.0:1.0:0.0	.	360	P14679	TYRO_HUMAN	I	360	ENSP00000263321:S360I	.	S	+	2	0	TYR	88600681	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.135000	0.94478	2.514000	0.84764	0.650000	0.86243	AGC			0.388	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394045.2		NM_000372		T	88961033	G	T	88961033	3	4	52	1	0	0	0	0	1	0	0	0	16837	971	34	2	1089	2	TYR	11	88961033	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	25278310	88961033	46045483	40	3708											
RNF26	79102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	119206597	119206597	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaccctgaggctggctacCcaggcactcagccagctcca	8	7	9	17	0	2	1	2	1	0	0	3	1	3	1	4	3	3	4	4	3	1	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr11:119206597C>G	ENST00000311413.4	+	1	1361	c.765C>G	c.(763-765)acC>acG	p.T255T	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	255						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GGCTGGCTACCCAGGCACTCA	0.607																																					p.T255T													.	.			0			c.C765G												88	84	86					11																	119206597		2199	4295	6494	SO:0001819	synonymous_variant	79102	exon1			GGCTACCCAGGCA	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.765C>G	11.37:g.119206597C>G			45	0	0		31	0.26	8	NM_032015	55	0.33	18	Q542Y8	Silent	SNP	ENST00000311413.4	37	CCDS8419.1																																																																																					0.607	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388220.1		NM_032015		G	119206597	C	G	119206597	2	3	52	1	0	0	0	0	0	0	0	1	13509	610	22	5		5	RNF26	11	119206597	Silent	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	30245564	119206597	15799919	41	3709											
GRAMD1B	57476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	123489463	123489463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actctggatgttggaatacaCcacgcagaccctcactgcct	10	9	8	14	1	2	1	1	0	1	1	2	3	2	3	3	2	2	2	3	2	2	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr11:123489463C>G	ENST00000529750.1	+	18	2291	c.1964C>G	c.(1963-1965)aCc>aGc	p.T655S	GRAMD1B_ENST00000450171.2_Missense_Mutation_p.T342S|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.T655S|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.T662S	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	655						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		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;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTGGAATACACCACGCAGACC	0.522																																					p.T655S													.	.			0			c.C1964G												47	51	49					11																	123489463		2045	4192	6237	SO:0001583	missense	57476	exon18			AATACACCACGCA	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1964C>G	11.37:g.123489463C>G	ENSP00000436500:p.Thr655Ser		137	0	0		72	0.29	21	NM_020716	4	0	0	Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769753	0.49680	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.45668	1.92;1.92;1.92;1.93;0.89	4.83	4.83	0.62350	.	0.126603	0.53938	D	0.000054	T	0.22704	0.0548	N	0.10707	0.03	0.36247	D	0.853669	B;B;B;B	0.25719	0.079;0.037;0.006;0.132	B;B;B;B	0.21360	0.027;0.022;0.005;0.034	T	0.21314	-1.0249	10	0.20519	T	0.43	.	13.6563	0.62339	0.0:0.8447:0.1553:0.0	.	611;342;655;662	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	S	662;662;655;655;615;342	ENSP00000402457:T662S;ENSP00000325628:T655S;ENSP00000436500:T655S;ENSP00000432987:T615S;ENSP00000388458:T342S	ENSP00000325628:T655S	T	+	2	0	GRAMD1B	122994673	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.900000	0.69853	2.392000	0.81423	0.455000	0.32223	ACC			0.522	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000387404.2		XM_370660		G	123489463	C	G	123489463	3	3	52	1	0	0	0	0	1	0	0	0	6763	507	18	5	2034	5	GRAMD1B	11	123489463	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	4282866	123489463	11517053	42	3710											
NACA	4666	broad.mit.edu	37	chr12	57111378	57111378	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggaggagttgcagctggAggagtgggggcccctttggg	6	7	22	6	0	0	0	0	0	0	0	0	5	0	4	2	7	2	3	2	7	0	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr12:57111378A>G	ENST00000454682.1	-	3	4217	c.3936T>C	c.(3934-3936)ccT>ccC	p.P1312P	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1312	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGCAGCTGGAGGAGTGGGGG	0.647			T	BCL6	NHL																																.				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	NACA_ENST00000454682,NS,malignant_melanoma,0,1	NACA	131	1	0			.												34	44	41					12																	57111378		1405	3197	4602	SO:0001819	synonymous_variant	4666	.			AGCTGGAGGAGTG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3936T>C	12.37:g.57111378A>G			141	0.0212765957	3		116	0.09	11	.	0		0		Silent	SNP	ENST00000454682.1	37																																																																																						0.647	NACA-201	KNOWN	basic	protein_coding	protein_coding				NM_005594		G	57111378	A	G	57111378	2	3	52	1	0	0	0	0	0	0	0	1	10149	291	11	4		4	NACA	12	57111378	Silent	SNP	A	TCGA-2G-AAHL-01A-11D-A42Y-10		57111378	76740517	43	3711											
NUP107	57122	mdanderson.org	37	chr12	69135740	69135740	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagatatggtatcctctGagcgccacaaactgtacctg	11	10	9	11	1	1	2	0	1	1	1	2	2	2	2	3	1	4	3	3	1	5	4			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr12:69135740G>T	ENST00000229179.4	+	27	2982	c.2650G>T	c.(2650-2652)Gag>Tag	p.E884*	NUP107_ENST00000378905.2_Nonsense_Mutation_p.E645*|NUP107_ENST00000539906.1_Nonsense_Mutation_p.E855*	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	884					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 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)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTATCCTCTGAGCGCCACAA	0.368																																					p.E884X													.	.			0			c.G2650T												165	148	154					12																	69135740		2203	4300	6503	SO:0001587	stop_gained	57122	exon27			TCCTCTGAGCGCC	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2650G>T	12.37:g.69135740G>T	ENSP00000229179:p.Glu884*		108	0	0		81	0.06	5	NM_020401	332	0	1	B4DZ67|Q6PJE1	Nonsense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	43	9.842402	0.99277	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.51	5.51	0.81932	.	0.141818	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.7214	19.8057	0.96531	0.0:0.0:1.0:0.0	.	.	.	.	X	884;645;855	.	.	E	+	1	0	NUP107	67422007	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.577000	0.90773	2.779000	0.95612	0.655000	0.94253	GAG			0.368	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403195.1		NM_020401		T	69135740	G	T	69135740	4	4	52	1	0	0	0	0	0	1	0	0	10770	1291	45	3	2756	3	NUP107	12	69135740	Nonsense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	12024362	69135740	64716155	44	3712											
ZFC3H1	196441	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	72028578	72028578	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcattttctttttcagattTtggaggtactttcggttttg	6	22	8	5	1	3	1	2	0	1	1	4	2	3	2	0	3	1	2	0	3	1	10			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr12:72028578T>A	ENST00000378743.3	-	11	2624	c.2266A>T	c.(2266-2268)Aaa>Taa	p.K756*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	756					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						TTTTCAGATTTTGGAGGTACT	0.328																																					p.K756X													.	.			0			c.A2266T												74	66	69					12																	72028578		1794	4059	5853	SO:0001587	stop_gained	196441	exon11			CAGATTTTGGAGG	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.2266A>T	12.37:g.72028578T>A	ENSP00000368017:p.Lys756*		59	0	0		48	0.23	11	NM_144982	0		0	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	42	9.223252	0.99105	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.4	5.4	0.78164	.	0.275476	0.36234	N	0.002708	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4268	0.75059	0.0:0.0:0.0:1.0	.	.	.	.	X	756	.	ENSP00000368017:K756X	K	-	1	0	ZFC3H1	70314845	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.361000	0.59461	2.054000	0.61138	0.533000	0.62120	AAA			0.328	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404751.1		NM_144982		A	72028578	T	A	72028578	4	1	52	1	0	0	0	0	0	1	0	0	17656	1850	64	5	3803	5	ZFC3H1	12	72028578	Nonsense_Mutation	SNP	T	TCGA-2G-AAHL-01A-11D-A42Y-10	2892838	72028578	61823317	45	3713											
SETD3	84193	mdanderson.org	37	chr14	99876548	99876548	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagagcgaaggaatcttctGgtgtctgaagaatagcaggg	13	8	14	6	1	3	3	0	1	3	2	3	5	3	4	0	3	2	1	0	3	6	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr14:99876548G>T	ENST00000331768.5	-	8	1009				SETD3_ENST00000329331.3_Missense_Mutation_p.P285Q	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3						histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ggaatcttctggtgtctgaag	0.547																																					p.P285Q													.	.			0			c.C854A												135	121	126					14																	99876548		2203	4300	6503	SO:0001627	intron_variant	84193	exon9			TCTTCTGGTGTCT	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.849+2739C>A	14.37:g.99876548G>T			73	0	0		53	0.06	3	NM_199123	0		0	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	G	3.328	-0.137219	0.06711	.	.	ENSG00000183576	ENST00000329331	T	0.21191	2.02	1.61	1.61	0.23674	.	.	.	.	.	T	0.20820	0.0501	N	0.08118	0	0.19945	N	0.999942	D	0.60160	0.987	D	0.66196	0.942	T	0.10497	-1.0627	9	0.66056	D	0.02	.	6.6954	0.23195	0.0:0.0:1.0:0.0	.	285	A0PJU3	.	Q	285	ENSP00000327910:P285Q	ENSP00000327910:P285Q	P	-	2	0	SETD3	98946301	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	-0.330000	0.07925	1.252000	0.44001	0.655000	0.94253	CCA			0.547	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000072339.3		NM_032233		T	99876548	G	T	99876548	1	4	52	0	1	0	0	0	0	0	0	0	14155	1348	47	3		3	SETD3	14	99876548	Intron	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		99876548	7472992	46	3714											
AHNAK2	113146	broad.mit.edu	37	chr14	105414109	105414109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggtgccctttgaggccgGctccctccggcacagggccc	4	6	14	17	2	0	1	0	1	0	0	2	1	2	1	5	5	1	3	5	5	0	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr14:105414109G>A	ENST00000333244.5	-	7	7798	c.7679C>T	c.(7678-7680)gCc>gTc	p.A2560V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2560						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)			TTTGAGGCCGGCTCCCTCCGG	0.627																																					p.A2560V													.	AHNAK2	719		0			c.C7679T												107	118	115					14																	105414109		1869	4095	5964	SO:0001583	missense	113146	exon7			AGGCCGGCTCCCT	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.7679C>T	14.37:g.105414109G>A	ENSP00000353114:p.Ala2560Val		185	0	0		175	0.03	6	NM_138420	0		0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	10.97	1.500590	0.26861	.	.	ENSG00000185567	ENST00000333244	T	0.00912	5.55	3.13	-0.0674	0.13760	.	.	.	.	.	T	0.01156	0.0038	M	0.66297	2.02	0.09310	N	1	P	0.35745	0.518	B	0.33339	0.162	T	0.44574	-0.9319	9	0.25751	T	0.34	.	4.4923	0.11819	0.2334:0.1824:0.5842:0.0	.	2560	Q8IVF2	AHNK2_HUMAN	V	2560	ENSP00000353114:A2560V	ENSP00000353114:A2560V	A	-	2	0	AHNAK2	104485154	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.432000	0.02430	0.072000	0.16694	0.306000	0.20318	GCC			0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420		A	105414109	G	A	105414109	3	1	52	1	0	0	0	0	1	0	0	0	415	1203	42	2	9712	2	AHNAK2	14	105414109	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	5537561	105414109	1935431	47	3715											
MAN2C1	4123	broad.mit.edu;mdanderson.org	37	chr15	75654243	75654243	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagaagttctggccctGcaaaaactgcctcaccatgg	13	7	9	12	0	2	2	1	0	1	2	2	2	2	2	3	2	3	2	3	2	4	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr15:75654243G>A	ENST00000267978.5	-	9	1100	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	MAN2C1_ENST00000565683.1_Nonsense_Mutation_p.Q352*|MAN2C1_ENST00000563622.1_Nonsense_Mutation_p.Q253*|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000569482.1_Nonsense_Mutation_p.Q352*	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	352					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						TTCTGGCCCTGCAAAAACTGC	0.622																																					p.Q352X													.	MAN2C1	76		0			c.C1054T												124	126	125					15																	75654243		2197	4294	6491	SO:0001587	stop_gained	4123	exon9			GGCCCTGCAAAAA	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.1054C>T	15.37:g.75654243G>A	ENSP00000267978:p.Gln352*		75	0	0		82	0.05	4	NM_001256494	13	0	0	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Nonsense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946387	0.92593	.	.	ENSG00000140400	ENST00000267978	.	.	.	5.54	4.59	0.56863	.	0.112811	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.0309	15.1417	0.72615	0.0:0.142:0.858:0.0	.	.	.	.	X	352	.	ENSP00000267978:Q352X	Q	-	1	0	MAN2C1	73441296	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.399000	0.59703	1.279000	0.44446	0.561000	0.74099	CAG			0.622	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419965.1				A	75654243	G	A	75654243	4	1	52	1	0	0	0	0	0	1	0	0	9234	1328	46	2	2140	2	MAN2C1	15	75654243	Nonsense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		75654243	26877149	48	3716											
ABCA3	21	mdanderson.org	37	chr16	2338251	2338251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaccaggacctgtgccGccaccattttccactcgcgc	7	7	10	17	3	0	0	0	0	0	0	2	2	1	1	6	2	1	1	6	2	0	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr16:2338251G>T	ENST00000301732.5	-	21	3480	c.2780C>A	c.(2779-2781)gCg>gAg	p.A927E	ABCA3_ENST00000382381.3_Missense_Mutation_p.A869E	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	927					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)	GACCTGTGCCGCCACCATTTT	0.637																																					p.A927E													.	.			0			c.C2780A												37	32	34					16																	2338251		2198	4298	6496	SO:0001583	missense	21	exon21			TGTGCCGCCACCA	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.2780C>A	16.37:g.2338251G>T	ENSP00000301732:p.Ala927Glu		32	0	0		38	0.08	3	NM_001089	5	0	0	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170611	0.38315	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D;D	0.93366	-3.21;-2.22	5.54	-4.17	0.03857	.	0.274124	0.36482	N	0.002568	D	0.89698	0.6790	L	0.44542	1.39	0.32835	D	0.504582	B;B	0.31705	0.053;0.336	B;B	0.39094	0.176;0.29	D	0.84283	0.0495	10	0.59425	D	0.04	.	13.5978	0.62000	0.6625:0.0:0.3375:0.0	.	931;927	Q4LE27;Q99758	.;ABCA3_HUMAN	E	927;931	ENSP00000301732:A927E;ENSP00000371818:A931E	ENSP00000301732:A927E	A	-	2	0	ABCA3	2278252	0.990000	0.36364	0.000000	0.03702	0.549000	0.35272	2.348000	0.44045	-0.563000	0.06078	-0.793000	0.03317	GCG			0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250784.2		NM_001089		T	2338251	G	T	2338251	3	4	52	1	0	0	0	0	1	0	0	0	33	1087	38	1	2386	1	ABCA3	16	2338251	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		2338251	88016502	49	3717											
ZNF764	92595	mdanderson.org	37	chr16	30566959	30566959	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcggcggccacagtcggcGcagccatagggtttctcgcc	7	6	14	14	5	1	0	0	0	1	0	3	0	1	0	3	4	2	2	3	4	2	2	rs549155581		TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr16:30566959G>T	ENST00000252797.2	-	3	863	c.783C>A	c.(781-783)tgC>tgA	p.C261*	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Nonsense_Mutation_p.C260*	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	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)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CACAGTCGGCGCAGCCATAGG	0.721																																					p.C261X													.	.			0			c.C783A												3	6	5					16																	30566959		2009	3975	5984	SO:0001587	stop_gained	92595	exon3			GTCGGCGCAGCCA	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"Zinc fingers, C2H2-type", "-"	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.783C>A	16.37:g.30566959G>T	ENSP00000252797:p.Cys261*		17	0	0		17	0.12	2	NM_033410	7	0	0	A8MZF4|B3KSN2|H9KV99|Q9BWS1	Nonsense_Mutation	SNP	ENST00000252797.2	37	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752410	0.31046	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	.	.	.	4.84	-3.09	0.05331	.	0.000000	0.42172	D	0.000749	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5261	12.0938	0.53742	0.5193:0.0:0.4807:0.0	.	.	.	.	X	261;260	.	ENSP00000252797:C261X	C	-	3	2	ZNF764	30474460	0.000000	0.05858	0.325000	0.25375	0.101000	0.19017	-0.362000	0.07602	-0.884000	0.03976	-1.244000	0.01528	TGC			0.721	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255541.1		NM_033410		T	30566959	G	T	30566959	4	4	52	1	0	0	0	0	0	1	0	0	18161	1079	38	1	447	1	ZNF764	16	30566959	Nonsense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	28228708	30566959	59787794	50	3718											
ZNF629	23361	mdanderson.org	37	chr16	30794398	30794398	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcgctggtggttgatGaggttggagctgacgctgaa	7	11	18	5	2	0	4	0	4	0	0	0	6	0	6	0	5	2	5	0	5	1	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr16:30794398G>T	ENST00000262525.4	-	3	1458	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)			GGTGGTTGATGAGGTTGGAGC	0.662																																					p.L417L													.	.			0			c.C1251A												52	56	54					16																	30794398		2197	4300	6497	SO:0001819	synonymous_variant	23361	exon3			GTTGATGAGGTTG	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.1251C>A	16.37:g.30794398G>T			56	0	0		43	0.07	3	NM_001080417	0		0	Q15938	Silent	SNP	ENST00000262525.4	37	CCDS45463.1																																																																																					0.662	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434291.1		NM_015309		T	30794398	G	T	30794398	2	4	52	1	0	0	0	0	0	0	0	1	18076	1277	45	3		3	ZNF629	16	30794398	Silent	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	227439	30794398	59560355	51	3719											
ZNF423	23090	mdanderson.org	37	chr16	49671203	49671203	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagttggcgcttgctgaGagccgctgccgcttcgggga	5	9	17	10	4	0	1	0	1	0	1	1	4	0	3	2	4	3	5	2	4	0	3			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr16:49671203G>T	ENST00000561648.1	-	4	1913	c.1860C>A	c.(1858-1860)ctC>ctA	p.L620L	ZNF423_ENST00000563137.2_Silent_p.L560L|ZNF423_ENST00000567169.1_Silent_p.L503L|ZNF423_ENST00000562520.1_Silent_p.L560L|ZNF423_ENST00000562871.1_Silent_p.L560L|ZNF423_ENST00000262383.2_Silent_p.L620L|ZNF423_ENST00000535559.1_Silent_p.L503L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	620					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTTGCTGAGAGCCGCTGCC	0.567																																					p.L620L													.	.			0			c.C1860A												78	69	72					16																	49671203		2198	4300	6498	SO:0001819	synonymous_variant	23090	exon4			TGCTGAGAGCCGC	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1860C>A	16.37:g.49671203G>T			113	0	0		68	0.07	5	NM_015069	5	0	0	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																					0.567	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000423258.1		NM_015069		T	49671203	G	T	49671203	2	4	52	1	0	0	0	0	0	0	0	1	17921	929	33	3		3	ZNF423	16	49671203	Silent	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	18876805	49671203	40683550	52	3720											
COX4I1	1327	broad.mit.edu	37	chr16	85838605	85838605	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatcggcgtgaccaccccTtgccggaggtggcccatgtc	5	8	14	14	3	0	1	0	1	0	0	2	3	0	3	5	5	1	0	5	5	0	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr16:85838605T>C	ENST00000562336.1	+	3	329	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L	COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000568794.1_Silent_p.L46L|COX4I1_ENST00000564903.1_Silent_p.L46L|COX4I1_ENST00000253452.2_Silent_p.L46L|COX4I1_ENST00000561569.1_Silent_p.L46L			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	46					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				TGACCACCCCTTGCCGGAGGT	0.493																																					p.L46L													.	COX4I1	20		0			c.T136C												53	56	55					16																	85838605		2198	4300	6498	SO:0001819	synonymous_variant	1327	exon3			CACCCCTTGCCGG	AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2265	protein-coding gene	gene with protein product		123864	"cytochrome c oxidase subunit IV"	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.136T>C	16.37:g.85838605T>C			123	0.1382113821	17		93	0.16	15	NM_001861	2211	0.03	66	B2R4J2|D3DUM7|Q6P666	Silent	SNP	ENST00000562336.1	37	CCDS10955.1																																																																																					0.493	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430873.1		NM_001861		C	85838605	T	C	85838605	2	2	52	1	0	0	0	0	0	0	0	1	3771	1606	56	4		4	COX4I1	16	85838605	Silent	SNP	T	TCGA-2G-AAHL-01A-11D-A42Y-10	36167402	85838605	4516148	53	3721											
ALOX12B	242	mdanderson.org	37	chr17	7979514	7979514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtgcattccacaccGccaagctgtcatcgcggtag	8	9	9	15	3	2	0	1	0	1	0	5	0	3	0	4	1	2	3	4	1	2	2	rs141010860		TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr17:7979514G>T	ENST00000319144.4	-	11	1771	c.1511C>A	c.(1510-1512)gCg>gAg	p.A504E	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	504	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						ATTCCACACCGCCAAGCTGTC	0.572										Multiple Myeloma(8;0.094)																											p.A504E													.	.			0			c.C1511A												135	111	119					17																	7979514		2203	4300	6503	SO:0001583	missense	242	exon11			CACACCGCCAAGC	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.1511C>A	17.37:g.7979514G>T	ENSP00000315167:p.Ala504Glu		67	0	0		40	0.08	3	NM_001139	1	0	0		Missense_Mutation	SNP	ENST00000319144.4	37	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887115	0.33348	.	.	ENSG00000179477	ENST00000319144	T	0.74632	-0.86	4.98	2.81	0.32909	Lipoxygenase, C-terminal (3);	0.308672	0.34046	N	0.004319	T	0.62344	0.2420	N	0.25485	0.75	0.09310	N	1	P	0.36282	0.546	B	0.41374	0.355	T	0.55970	-0.8056	10	0.51188	T	0.08	-15.1141	7.8713	0.29567	0.0:0.2787:0.5577:0.1636	.	504	O75342	LX12B_HUMAN	E	504	ENSP00000315167:A504E	ENSP00000315167:A504E	A	-	2	0	ALOX12B	7920239	0.375000	0.25089	0.223000	0.23860	0.104000	0.19210	0.789000	0.26886	1.077000	0.40990	0.455000	0.32223	GCG			0.572	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226984.3				T	7979514	G	T	7979514	3	4	52	1	0	0	0	0	1	0	0	0	537	1087	38	1	614	1	ALOX12B	17	7979514	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		7979514	73215696	54	3722											
RAI1	10743	mdanderson.org	37	chr17	17701342	17701342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcctctgccaaaacccgGccaacttcaaggaccttggg	9	7	10	15	1	2	0	1	0	1	0	2	1	2	1	5	3	4	1	5	3	4	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr17:17701342G>T	ENST00000353383.1	+	3	5549	c.5080G>T	c.(5080-5082)Gcc>Tcc	p.A1694S	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1694					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)		CCAAAACCCGGCCAACTTCAA	0.592																																					p.A1694S													.	.			0			c.G5080T												85	86	86					17																	17701342		2203	4300	6503	SO:0001583	missense	10743	exon3			AACCCGGCCAACT	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.5080G>T	17.37:g.17701342G>T	ENSP00000323074:p.Ala1694Ser		102	0	0		67	0.07	5	NM_030665	36	0	0	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712777	0.68730	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.41400	1.0	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000003	T	0.54951	0.1890	L	0.48642	1.525	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.54944	-0.8217	10	0.52906	T	0.07	.	12.9576	0.58438	0.0812:0.0:0.9188:0.0	.	1694	Q7Z5J4	RAI1_HUMAN	S	1694;1694;1582	ENSP00000323074:A1694S	ENSP00000322928:A1582S	A	+	1	0	RAI1	17642067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.246000	0.65411	2.382000	0.81193	0.555000	0.69702	GCC			0.592	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131775.1		NM_030665		T	17701342	G	T	17701342	3	4	52	1	0	0	0	0	1	0	0	0	13030	1203	42	2	5082	2	RAI1	17	17701342	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	9721828	17701342	63493868	55	3723											
GAS2L2	246176	broad.mit.edu	37	chr17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgctggcggcgaggggTcgggcgggggcagggccagc	3	2	26	10	5	0	0	0	0	0	0	1	1	0	0	1	10	1	2	1	10	0	0			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					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)		CGGCGAGGGGTCGGGCGGGGG	0.741																																					p.D189A													GAS2L2,right_upper_lobe,carcinoma,0,2	GAS2L2	94	2	0			c.A566C												20	26	24					17																	34077157		2188	4280	6468	SO:0001583	missense	246176	exon2			GAGGGGTCGGGCG	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.566A>C	17.37:g.34077157T>G	ENSP00000254466:p.Asp189Ala		83	0.3493975904	29		80	0.38	30	NM_139285	0		0	Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	7.826	0.718860	0.15372	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.98	2.77	0.32553	.	1.437920	0.04140	N	0.319452	T	0.17152	0.0412	L	0.51422	1.61	0.26149	N	0.980163	P	0.37781	0.608	B	0.30401	0.115	T	0.28902	-1.0029	10	0.49607	T	0.09	0.0179	8.0796	0.30737	0.0:0.1677:0.0:0.8323	.	189	Q8NHY3	GA2L2_HUMAN	A	189	ENSP00000254466:D189A	ENSP00000254466:D189A	D	-	2	0	GAS2L2	31101270	0.986000	0.35501	0.134000	0.22075	0.011000	0.07611	2.112000	0.41892	0.749000	0.32854	0.402000	0.26972	GAC			0.741	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256497.1		NM_139285		G	34077157	T	G	34077157	3	3	52	1	0	0	0	0	1	0	0	0	6261	1667	58	4	2096	4	GAS2L2	17	34077157	Missense_Mutation	SNP	T	TCGA-2G-AAHL-01A-11D-A42Y-10	16375815	34077157	47118053	56	3724											
SMARCE1	6605	mdanderson.org	37	chr17	38798746	38798746	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgggttccctcccagcctGtagttgttgtaggcgagatg	5	11	13	12	2	0	1	0	0	0	1	2	2	2	1	4	2	1	5	4	2	2	5			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr17:38798746G>T	ENST00000348513.6	-	4	897	c.117C>A	c.(115-117)taC>taA	p.Y39*	SMARCE1_ENST00000578044.1_Intron|SMARCE1_ENST00000377808.4_Intron|SMARCE1_ENST00000474246.1_Nonsense_Mutation_p.Y39*|SMARCE1_ENST00000544009.1_Intron|SMARCE1_ENST00000400122.3_Intron|KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000580419.1_Intron|SMARCE1_ENST00000431889.2_Nonsense_Mutation_p.Y21*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	39	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				CTCCCAGCCTGTAGTTGTTGT	0.493																																					p.Y39X													.	.			0			c.C117A												128	123	125					17																	38798746		2203	4300	6503	SO:0001587	stop_gained	6605	exon4			CAGCCTGTAGTTG	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.117C>A	17.37:g.38798746G>T	ENSP00000323967:p.Tyr39*		73	0	0		46	0.07	3	NM_003079	128	0	0	B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Nonsense_Mutation	SNP	ENST00000348513.6	37	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880098	0.97062	.	.	ENSG00000073584	ENST00000348513;ENST00000431889	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	.	.	.	X	39;21	.	ENSP00000323967:Y39X	Y	-	3	2	SMARCE1	36052272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.882000	0.98803	0.655000	0.94253	TAC			0.493	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257203.1		NM_003079		T	38798746	G	T	38798746	4	4	52	1	0	0	0	0	0	1	0	0	14803	1372	48	3	1150	3	SMARCE1	17	38798746	Nonsense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	4721589	38798746	42396464	57	3725											
SP6	80320	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	45924781	45924781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccgcctcctccttggCgccctcgtgggttttcatgt	2	12	10	17	3	1	0	1	0	0	0	4	0	3	0	6	2	1	1	6	2	0	3			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr17:45924781C>T	ENST00000536300.1	-	2	1346	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	SP6_ENST00000342234.2_Missense_Mutation_p.A339T	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	339					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|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(1)|lung(5)|prostate(1)|skin(1)	8						TCCTCCTTGGCGCCCTCGTGG	0.701																																					p.A339T													.	SP6	26		0			c.G1015A												20	22	21					17																	45924781		2203	4300	6503	SO:0001583	missense	80320	exon2			CCTTGGCGCCCTC		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.1015G>A	17.37:g.45924781C>T	ENSP00000438209:p.Ala339Thr		135	0	0		120	0.07	8	NM_001258248	2	0	0	B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736842	0.30774	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.69806	-0.43;-0.43	4.4	1.03	0.20045	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.346065	0.21039	N	0.081216	T	0.39009	0.1062	N	0.08118	0	0.31347	N	0.682953	B	0.15930	0.015	B	0.10450	0.005	T	0.29761	-1.0001	10	0.19590	T	0.45	.	7.2294	0.26034	0.1473:0.6749:0.0:0.1778	.	339	Q3SY56	SP6_HUMAN	T	339	ENSP00000340799:A339T;ENSP00000438209:A339T	ENSP00000340799:A339T	A	-	1	0	SP6	43279780	0.014000	0.17966	1.000000	0.80357	0.983000	0.72400	0.354000	0.20146	0.489000	0.27749	0.462000	0.41574	GCC			0.701	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441395.1		NM_199262		T	45924781	C	T	45924781	3	4	52	1	0	0	0	0	1	0	0	0	14991	768	27	1	119	1	SP6	17	45924781	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	7126035	45924781	35270429	58	3726											
CARD14	79092	mdanderson.org	37	chr17	78164655	78164655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacagggagaaggtgaatgCgctgcaggcccaggtgtgcg	9	6	17	9	2	0	2	0	1	0	1	0	3	0	2	1	4	4	2	1	4	3	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr17:78164655C>T	ENST00000573882.1	+	9	1582	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V	CARD14_ENST00000344227.2_Missense_Mutation_p.A349V|CARD14_ENST00000570421.1_Missense_Mutation_p.A349V|CARD14_ENST00000392434.2_Missense_Mutation_p.A112V|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	349					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AAGGTGAATGCGCTGCAGGCC	0.617																																					p.A349V													.	.			0			c.C1046T												80	77	78					17																	78164655		2203	4300	6503	SO:0001583	missense	79092	exon7			TGAATGCGCTGCA	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1046C>T	17.37:g.78164655C>T	ENSP00000458715:p.Ala349Val		37	0	0		35	0.09	3	NM_024110	0		0	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	c	7.090	0.571936	0.13623	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.35605	1.3;1.3	4.26	2.21	0.28008	.	0.589265	0.17040	N	0.189368	T	0.41050	0.1142	M	0.73962	2.25	0.09310	N	1	P;D;P	0.61697	0.952;0.99;0.685	B;P;B	0.46110	0.146;0.504;0.062	T	0.32214	-0.9915	10	0.62326	D	0.03	-4.5366	9.2707	0.37670	0.0:0.815:0.0:0.185	.	349;112;349	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	V	349;112;112	ENSP00000344549:A349V;ENSP00000376229:A112V	ENSP00000308507:A112V	A	+	2	0	CARD14	75779250	0.130000	0.22417	0.002000	0.10522	0.012000	0.07955	1.333000	0.33816	0.264000	0.21851	0.651000	0.88453	GCG			0.617	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437507.1				T	78164655	C	T	78164655	3	4	52	1	0	0	0	0	1	0	0	0	2648	768	27	1	1068	1	CARD14	17	78164655	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	32239874	78164655	3030555	59	3727											
CCDC57	284001	mdanderson.org	37	chr17	80086422	80086422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgctgagcggggctGgtgctttcccaagtgtctgg	4	11	15	11	1	1	1	0	1	1	0	2	1	2	1	2	4	3	3	2	4	1	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr17:80086422G>T	ENST00000389641.4	-	16	2332	c.2296C>A	c.(2296-2298)Cag>Aag	p.Q766K	CCDC57_ENST00000392346.2_Missense_Mutation_p.Q123K|CCDC57_ENST00000392347.1_Missense_Mutation_p.Q766K			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	766										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GAGCGGGGCTGGTGCTTTCCC	0.607																																					p.Q765K													.	.			0			c.C2293A												51	60	57					17																	80086422		2110	4203	6313	SO:0001583	missense	284001	exon15			GGGGCTGGTGCTT	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2296C>A	17.37:g.80086422G>T	ENSP00000374292:p.Gln766Lys		81	0	0		48	0.06	3	NM_198082	12	0	0	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.967|5.967	0.362374|0.362374	0.11296|0.11296	.|.	.|.	ENSG00000176155|ENSG00000176155	ENST00000392345;ENST00000419322|ENST00000389641;ENST00000392347;ENST00000392346;ENST00000324808	.|T;T;T	.|0.15372	.|2.43;2.43;2.63	1.82|1.82	-0.296|-0.296	0.12824|0.12824	.|.	.|1.030140	.|0.07829	.|U	.|0.961053	T|T	0.10035|0.10035	0.0246|0.0246	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.17268	.|0.021;0.005	.|B;B	.|0.19148	.|0.024;0.003	T|T	0.40646|0.40646	-0.9552|-0.9552	5|10	.|0.23891	.|T	.|0.37	-3.5856|-3.5856	4.5521|4.5521	0.12117|0.12117	0.3463:0.0:0.6537:0.0|0.3463:0.0:0.6537:0.0	.|.	.|72;766	.|E7ENZ0;Q2TAC2	.|.;CCD57_HUMAN	Q|K	4;222|766;766;123;72	.|ENSP00000374292:Q766K;ENSP00000376158:Q766K;ENSP00000376157:Q123K	.|ENSP00000315223:Q72K	P|Q	-|-	2|1	0|0	CCDC57|CCDC57	77679711|77679711	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	1.116000|1.116000	0.31221|0.31221	-0.042000|-0.042000	0.13535|0.13535	-1.520000|-1.520000	0.00934|0.00934	CCA|CAG			0.607	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000277182.3		NM_198082		T	80086422	G	T	80086422	3	4	52	1	0	0	0	0	1	0	0	0	2829	1357	47	3	466	3	CCDC57	17	80086422	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	1921767	80086422	1108788	60	3728											
MIER2	54531	broad.mit.edu	37	chr19	327235	327235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttcttcccctgaaaGcaaatccttcgctatttgtt	7	17	4	13	1	2	1	0	1	2	0	6	1	5	1	4	0	1	3	4	0	3	7			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr19:327235G>A	ENST00000264819.4	-	5	401	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	131					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)		TCCCCTGAAAGCAAATCCTTC	0.433																																					p.L131F													.	MIER2	51		0			c.C391T												228	219	222					19																	327235		2203	4300	6503	SO:0001583	missense	54531	exon5			CTGAAAGCAAATC	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.391C>T	19.37:g.327235G>A	ENSP00000264819:p.Leu131Phe		87	0.0689655172	6		92	0.16	15	NM_017550	90	0	0	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.513315	0.64522	.	.	ENSG00000105556	ENST00000264819	T	0.36157	1.27	5.14	4.1	0.47936	.	0.000000	0.43416	D	0.000567	T	0.37758	0.1015	M	0.63428	1.95	0.49130	D	0.999756	P	0.44044	0.825	B	0.41764	0.366	T	0.33727	-0.9857	10	0.72032	D	0.01	-16.4891	11.2349	0.48933	0.0846:0.0:0.9154:0.0	.	131	Q8N344	MIER2_HUMAN	F	131	ENSP00000264819:L131F	ENSP00000264819:L131F	L	-	1	0	MIER2	278235	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.015000	0.64035	1.173000	0.42796	0.555000	0.69702	CTT			0.433	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451784.1		XM_041843		A	327235	G	A	327235	3	1	52	1	0	0	0	0	1	0	0	0	9597	971	34	2	1286	2	MIER2	19	327235	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		327235	58801748	61	3729											
S1PR2	9294	mdanderson.org	37	chr19	10334950	10334950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggaccacgcagtagatgCgcacgtacagggccacgatg	11	4	14	12	5	0	1	0	0	0	1	0	3	0	2	2	2	3	4	2	2	2	2	rs141230424		TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr19:10334950C>T	ENST00000590320.1	-	2	742	c.632G>A	c.(631-633)cGc>cAc	p.R211H	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	211					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAGTAGATGCGCACGTACAG	0.602													C|||	1	0.000199681	0	0	5008	,	,		19399	0		0.001	False		,,,				2504	0				p.R211H	Pancreas(194;229 3020 15179 45747)												.	.			0			c.G632A							C	HIS/ARG	0,4406		0,0,2203	79	64	69		632	4.8	1	19	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	S1PR2	NM_004230.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	211/354	10334950	1,13005	2203	4300	6503	SO:0001583	missense	9294	exon2			TAGATGCGCACGT	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.632G>A	19.37:g.10334950C>T	ENSP00000466933:p.Arg211His		52	0	0		43	0.07	3	NM_004230	1	0	0	Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	CCDS12229.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.96	2.988272	0.53934	0.0	1.16E-4	ENSG00000175898	ENST00000317726	.	.	.	5.81	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.134693	0.48286	N	0.000189	T	0.46034	0.1372	L	0.48642	1.525	0.50039	D	0.999848	B	0.23540	0.087	B	0.19148	0.024	T	0.33343	-0.9872	9	0.15066	T	0.55	.	10.1201	0.42616	0.0:0.8451:0.0:0.1549	.	211	O95136	S1PR2_HUMAN	H	211	.	ENSP00000322049:R211H	R	-	2	0	S1PR2	10195950	0.995000	0.38212	0.987000	0.45799	0.246000	0.25737	1.601000	0.36773	1.474000	0.48178	-0.144000	0.13903	CGC	0		0.602	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451194.1		NM_004230		T	10334950	C	T	10334950	3	4	52	1	0	0	0	0	1	0	0	0	13817	768	27	1	433	1	S1PR2	19	10334950	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	10007715	10334950	48794033	62	3730											
SMARCA4	6597	ucsc.edu	37	chr19	11123647	11123647	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggtttggagtggctggTgtccctgtacaacaacaacc	11	9	11	10	0	0	0	0	0	0	0	1	1	1	1	2	4	4	3	2	4	5	2	rs201128299	byFrequency	TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr19:11123647T>G	ENST00000429416.3	+	17	2578	c.2297T>G	c.(2296-2298)gTg>gGg	p.V766G	SMARCA4_ENST00000358026.2_Missense_Mutation_p.V766G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.V766G|CTC-215O4.4_ENST00000587831.1_RNA|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.V766G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.V766G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.V766G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.V766G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.V766G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.V766G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	766	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)				GAGTGGCTGGTGTCCCTGTAC	0.592			"F, N, Mis"		NSCLC																																p.V766G				Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	SMARCA4_ENST00000358026,NS,carcinoma,-1,2	SMARCA4	502	2	1	Unknown(1)	lung(1)	c.T2297G												120	94	103					19																	11123647		2203	4300	6503	SO:0001583	missense	6597	exon16			GGCTGGTGTCCCT	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.2297T>G	19.37:g.11123647T>G	ENSP00000395654:p.Val766Gly		150	0.0666666667	10		159	0.09	14	NM_003072	94	0.22	21	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709111	0.89018	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.96247	0.8776	M	0.77820	2.39	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	0.999;0.999;0.999;0.999;1.0;0.999;0.999	D	0.96694	0.9513	10	0.87932	D	0	-43.9195	13.3423	0.60551	0.0:0.0:0.0:1.0	.	766;766;766;766;766;766;766	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	G	766;766;830;766;766;766;766;766	ENSP00000395654:V766G;ENSP00000350720:V766G;ENSP00000343896:V766G;ENSP00000445036:V766G;ENSP00000392837:V766G;ENSP00000397783:V766G;ENSP00000414727:V766G	ENSP00000343896:V766G	V	+	2	0	SMARCA4	10984647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	1.988000	0.58038	0.533000	0.62120	GTG			0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000452638.2		NM_003072		G	11123647	T	G	11123647	3	3	52	1	0	0	0	0	1	0	0	0	14793	1696	59	4	2355	4	SMARCA4	19	11123647	Missense_Mutation	SNP	T	TCGA-2G-AAHL-01A-11D-A42Y-10	788697	11123647	48005336	63	3731											
NACC1	112939	mdanderson.org	37	chr19	13246749	13246749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcgggagcagggcagccagCcggtggggtggcagcagcag	7	3	21	10	2	0	0	0	0	0	0	0	1	0	1	2	6	6	5	2	6	0	0			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr19:13246749C>T	ENST00000292431.4	+	2	854	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	243					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GGGCAGCCAGCCGGTGGGGTG	0.741																																					p.A243V													.	.			0			c.C728T												8	11	10					19																	13246749		2135	4178	6313	SO:0001583	missense	112939	exon2			AGCCAGCCGGTGG	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.728C>T	19.37:g.13246749C>T	ENSP00000292431:p.Ala243Val		42	0	0		22	0.09	2	NM_052876	18	0	0		Missense_Mutation	SNP	ENST00000292431.4	37	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	C	0.126	-1.119293	0.01785	.	.	ENSG00000160877	ENST00000292431	T	0.53857	0.6	2.27	0.0361	0.14190	.	0.667620	0.14070	N	0.343408	T	0.29882	0.0747	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15578	-1.0432	10	0.17369	T	0.5	.	4.5666	0.12189	0.0:0.6702:0.0:0.3298	.	243	Q96RE7	NACC1_HUMAN	V	243	ENSP00000292431:A243V	ENSP00000292431:A243V	A	+	2	0	NACC1	13107749	0.002000	0.14202	0.001000	0.08648	0.084000	0.17831	1.177000	0.31969	0.075000	0.16796	0.400000	0.26472	GCC			0.741	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452879.1		NM_052876		T	13246749	C	T	13246749	3	4	52	1	0	0	0	0	1	0	0	0	10151	739	26	2	730	2	NACC1	19	13246749	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	2123102	13246749	45882234	64	3732											
SIRPG	55423	broad.mit.edu	37	chr20	1615980	1615980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaggcgtttgctgacCgccagctgcccatcatgctt	7	9	12	13	2	1	1	1	1	0	0	1	1	1	1	3	2	4	5	3	2	1	2	rs147655438		TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr20:1615980C>T	ENST00000303415.3	-	4	1078	c.1014G>A	c.(1012-1014)gcG>gcA	p.A338A	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000381580.1_Silent_p.A305A|SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	338	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTTTGCTGACCGCCAGCTGCC	0.502																																					p.A338A													SIRPG,NS,carcinoma,0,1	SIRPG	61	1	0			c.G1014A							C	,,	1,4405		0,1,2202	116	94	101		,1014,	-0.9	0	20	dbSNP_134	101	0,8600		0,0,4300	no	intron,coding-synonymous,intron	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,338/388,	1615980	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55423	exon4			GCTGACCGCCAGC	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1014G>A	20.37:g.1615980C>T			155	0	0		99	0.04	4	NM_018556	14	0	0	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000303415.3	37	CCDS13020.2																																																																																					0.502	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077566.2		NM_018556		T	1615980	C	T	1615980	2	4	52	1	0	0	0	0	0	0	0	1	14359	639	23	1		1	SIRPG	20	1615980	Silent	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10		1615980	61409540	65	3733											
FOXA2	3170	broad.mit.edu	37	chr20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtccattttgtggggttgGtggtggtggtggctgtggtg	2	15	21	3	0	0	0	0	0	0	0	1	0	1	0	1	9	0	2	1	9	0	3			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr20:22562677G>C	ENST00000377115.4	-	3	1366	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	FOXA2_ENST00000419308.2_Missense_Mutation_p.H401Q	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	395	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612																																					p.H401Q													.	FOXA2	48		0			c.C1203G												160	156	158					20																	22562677		2203	4300	6503	SO:0001583	missense	3170	exon2			GGGTTGGTGGTGG	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1185C>G	20.37:g.22562677G>C	ENSP00000366319:p.His395Gln		223	0.0044843049	1		166	0.02	3	NM_021784	0		0	Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	5.824	0.336270	0.11013	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.89485	-2.51;-2.51;-2.52	4.15	-0.0701	0.13748	Forkhead box protein, C-terminal (1);	.	.	.	.	T	0.81451	0.4825	L	0.36672	1.1	0.32494	N	0.539792	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.01	T	0.74278	-0.3717	9	0.40728	T	0.16	.	8.4046	0.32608	0.4526:0.0:0.5474:0.0	.	395;401	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	Q	395;395;401;281	ENSP00000366319:H395Q;ENSP00000400341:H395Q;ENSP00000315955:H401Q	ENSP00000315955:H401Q	H	-	3	2	FOXA2	22510677	1.000000	0.71417	0.999000	0.59377	0.517000	0.34286	1.203000	0.32284	0.134000	0.18681	-0.348000	0.07805	CAC			0.612	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000078289.1				C	22562677	G	C	22562677	3	2	52	1	0	0	0	0	1	0	0	0	6003	1252	44	5	192	5	FOXA2	20	22562677	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	20946697	22562677	40462843	66	3734											
RALGAPB	57148	broad.mit.edu	37	chr20	37195815	37195815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaggaattctgaaacaGccatccctgacacttgagct	12	9	8	12	0	1	3	0	3	1	0	2	4	2	4	3	1	4	1	3	1	2	2			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr20:37195815G>T	ENST00000262879.6	+	26	4178	c.3894G>T	c.(3892-3894)caG>caT	p.Q1298H	RALGAPB_ENST00000397042.3_Missense_Mutation_p.Q1295H|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Q1077H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.Q1298H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1298	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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						TTCTGAAACAGCCATCCCTGA	0.388																																					p.Q1298H													.	RALGAPB	134		0			c.G3894T												144	133	137					20																	37195815		2203	4300	6503	SO:0001583	missense	57148	exon26			GAAACAGCCATCC	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.3894G>T	20.37:g.37195815G>T	ENSP00000262879:p.Gln1298His		145	0	0		99	0.03	3	NM_020336	43	0	0	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681907	0.68042	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.42	2.4	0.29515	Rap/ran-GAP (1);	0.053919	0.85682	D	0.000000	T	0.59636	0.2208	L	0.44542	1.39	0.58432	D	0.999998	D;D	0.57899	0.981;0.981	P;P	0.57009	0.811;0.811	T	0.55921	-0.8064	9	0.36615	T	0.2	.	10.8124	0.46555	0.2085:0.0:0.7915:0.0	.	1295;1298	A2A2E9;Q86X10	.;RLGPB_HUMAN	H	1298;1295;1077;1298;1127	.	ENSP00000262879:Q1298H	Q	+	3	2	RALGAPB	36629229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.076000	0.50081	0.682000	0.31407	0.591000	0.81541	CAG			0.388	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000079191.1		NM_020336		T	37195815	G	T	37195815	3	4	52	1	0	0	0	0	1	0	0	0	13038	962	34	2	3992	2	RALGAPB	20	37195815	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	14633138	37195815	25829705	67	3735											
ADAMTS5	11096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	28302337	28302337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacacttcccccggacgCagacggaattactgtacagc	11	7	8	15	3	1	1	1	0	0	1	2	3	2	3	2	2	3	2	2	2	3	3			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr21:28302337C>G	ENST00000284987.5	-	7	2214	c.2093G>C	c.(2092-2094)tGc>tCc	p.C698S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	698	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCCCGGACGCAGACGGAATT	0.498																																					p.C698S	Esophageal Squamous(53;683 1080 10100 14424 45938)												ADAMTS5,colon,carcinoma,+1,2	ADAMTS5	1	2	0			c.G2093C												225	200	209					21																	28302337		2203	4300	6503	SO:0001583	missense	11096	exon7			CGGACGCAGACGG	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2093G>C	21.37:g.28302337C>G	ENSP00000284987:p.Cys698Ser		157	0	0		135	0.36	48	NM_007038	11	0.36	4	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508910	0.85282	.	.	ENSG00000154736	ENST00000284987	D	0.82167	-1.58	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.94938	0.8363	H	0.97265	3.97	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95888	0.8904	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	698	Q9UNA0	ATS5_HUMAN	S	698	ENSP00000284987:C698S	ENSP00000284987:C698S	C	-	2	0	ADAMTS5	27224208	1.000000	0.71417	0.806000	0.32338	0.531000	0.34715	7.412000	0.80091	2.837000	0.97791	0.655000	0.94253	TGC			0.498	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000171648.1				G	28302337	C	G	28302337	3	3	52	1	0	0	0	0	1	0	0	0	269	710	25	5	707	5	ADAMTS5	21	28302337	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10		28302337	19827558	68	3736											
HLCS	3141	hgsc.bcm.edu	37	chr21	38269383	38269383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccggattttatttctccctCggagtccacatgtttcccaa	7	14	7	13	2	1	0	0	0	1	0	5	2	3	2	4	2	0	1	4	2	2	4			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr21:38269383C>G	ENST00000399120.1	-	7	2458	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	HLCS_ENST00000336648.4_Missense_Mutation_p.E410Q|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	410					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)	ATTTCTCCCTCGGAGTCCACA	0.418																																					p.E410Q													.	.			0			c.G1228C												76	85	82					21																	38269383		2203	4300	6503	SO:0001583	missense	3141	exon7			CTCCCTCGGAGTC		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.1228G>C	21.37:g.38269383C>G	ENSP00000382071:p.Glu410Gln		102	0	0		100	0.04	4	NM_000411	16	0	0	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	6.694	0.496735	0.12762	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98192	-4.78;-4.78	5.12	3.17	0.36434	.	0.601719	0.19029	N	0.124617	D	0.95774	0.8625	L	0.55481	1.735	0.09310	N	1	P	0.41345	0.746	B	0.38880	0.284	D	0.90160	0.4227	10	0.22706	T	0.39	.	9.9605	0.41693	0.0:0.784:0.139:0.077	.	410	P50747	BPL1_HUMAN	Q	410	ENSP00000382071:E410Q;ENSP00000338387:E410Q	ENSP00000338387:E410Q	E	-	1	0	HLCS	37191253	0.133000	0.22466	0.053000	0.19242	0.263000	0.26337	2.110000	0.41873	1.295000	0.44724	0.563000	0.77884	GAG			0.418	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194687.2				G	38269383	C	G	38269383	3	3	52	1	0	0	0	0	1	0	0	0	7228	893	31	5	976	5	HLCS	21	38269383	Missense_Mutation	SNP	C	TCGA-2G-AAHL-01A-11D-A42Y-10	9967046	38269383	9860512	69	3737											
KRTAP10-2	386679	mdanderson.org	37	chr21	45971147	45971147	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagcctgattggcaggcGctgggctcacaggccgcctg	5	7	16	13	2	1	1	1	1	0	0	1	1	1	1	3	4	2	4	3	4	0	1			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr21:45971147G>A	ENST00000391621.1	-	1	241	c.195C>T	c.(193-195)agC>agT	p.S65S	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	65	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						ATTGGCAGGCGCTGGGCTCAC	0.706																																					p.S65S													.	.			0			c.C195T												35	40	38					21																	45971147		2198	4287	6485	SO:0001819	synonymous_variant	386679	exon1			GCAGGCGCTGGGC	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.195C>T	21.37:g.45971147G>A			36	0	0		39	0.08	3	NM_198693	0		0	Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																					0.706	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128027.1				A	45971147	G	A	45971147	2	1	52	1	0	0	0	0	0	0	0	1	8524	1078	38	1		1	KRTAP10-2	21	45971147	Silent	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10	7701764	45971147	2158748	70	3738											
C22orf30	253143	broad.mit.edu	37	chr22	32109902	32109902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggtgacaagctttgcaaGcattcttttccacacaggta	11	11	10	9	0	1	1	0	1	1	0	2	2	2	1	1	2	3	4	1	2	3	5			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chr22:32109902G>T	ENST00000327423.6	-	4	4112	c.3923C>A	c.(3922-3924)gCt>gAt	p.A1308D	PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000434485.1_Missense_Mutation_p.A1308D|PRR14L_ENST00000397493.2_Missense_Mutation_p.A1308D	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1308										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AGCTTTGCAAGCATTCTTTTC	0.418											OREG0003535	type=REGULATORY REGION|Gene=AK130944|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.A1308D													.	PRR14L	198		0			c.C3923A												113	88	95					22																	32109902		692	1591	2283	SO:0001583	missense	253143	exon4			TTGCAAGCATTCT	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.3923C>A	22.37:g.32109902G>T	ENSP00000331845:p.Ala1308Asp		141	0	0	829	165	0.02	4	NM_173566	0		0	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770778	0.49680	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06528	3.29;3.31;3.3	4.23	-0.963	0.10330	.	1.991190	0.03130	N	0.165003	T	0.05777	0.0151	L	0.29908	0.895	0.09310	N	1	P;B;P	0.47677	0.815;0.358;0.899	B;B;B	0.39258	0.295;0.203;0.295	T	0.41752	-0.9491	9	.	.	.	0.3283	8.2278	0.31579	0.5549:0.0:0.4451:0.0	.	1308;1308;1308	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	D	1308	ENSP00000380630:A1308D;ENSP00000331845:A1308D;ENSP00000388314:A1308D	.	A	-	2	0	PRR14L	30439902	0.000000	0.05858	0.000000	0.03702	0.276000	0.26787	-0.426000	0.07008	-0.482000	0.06782	0.650000	0.86243	GCT			0.418	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000074993.2		NM_173566		T	32109902	G	T	32109902	3	4	52	1	0	0	0	0	1	0	0	0	2144	971	34	2	2556	2	C22orf30	22	32109902	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		32109902	19194664	71	3739											
WWC3	55841	mdanderson.org	37	chrX	10098006	10098006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttcaggagttggcaaGcggactcggtggatagcggc	7	7	16	11	4	1	0	1	0	0	0	2	3	1	3	2	6	2	2	2	6	2	3			TCGA-2G-AAHL-01A-11D-A42Y-10	TCGA-2G-AAHL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b32e51f-53fa-4dbd-b41f-a2c7bf173d75	fee4df93-5a3c-4c18-92e3-8306991eaaa2	g.chrX:10098006G>T	ENST00000380861.4	+	18	2834	c.2443G>T	c.(2443-2445)Gcg>Tcg	p.A815S	WWC3_ENST00000454666.1_Missense_Mutation_p.A815S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	815					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)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GAGTTGGCAAGCGGACTCGGT	0.542																																					p.A815S													.	.			0			c.G2443T												112	87	96					X																	10098006		2203	4300	6503	SO:0001583	missense	55841	exon18			TGGCAAGCGGACT	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2443G>T	X.37:g.10098006G>T	ENSP00000370242:p.Ala815Ser		53	0	0		40	0.08	3	NM_015691	0		0	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360483	0.61403	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.05199	3.48;3.48	5.78	5.78	0.91487	.	0.457691	0.23933	N	0.043134	T	0.10252	0.0251	L	0.46157	1.445	0.54753	D	0.999989	B	0.24426	0.103	B	0.31290	0.127	T	0.23511	-1.0186	9	.	.	.	-4.4935	19.0442	0.93013	0.0:0.0:1.0:0.0	.	815	Q9ULE0	WWC3_HUMAN	S	815;815;310	ENSP00000370242:A815S;ENSP00000399584:A815S	.	A	+	1	0	WWC3	10058006	1.000000	0.71417	0.874000	0.34290	0.452000	0.32318	8.684000	0.91242	2.447000	0.82792	0.544000	0.68410	GCG			0.542	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055725.1		NM_015691		T	10098006	G	T	10098006	3	4	52	1	0	0	0	0	1	0	0	0	17437	971	34	2	2509	2	WWC3	23	10098006	Missense_Mutation	SNP	G	TCGA-2G-AAHL-01A-11D-A42Y-10		10098006	145172554	72	3740											
CLCNKB	1188	broad.mit.edu	37	chr1	16383402	16383402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctgacaaatccgccagcCccaaagtgagccggcccagc	12	3	9	17	2	0	2	0	2	0	0	1	2	1	2	7	1	4	0	7	1	3	0	rs6698427		TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:16383402C>T	ENST00000375679.4	+	20	2166	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	CLCNKB_ENST00000375667.3_Silent_p.A515A|FAM131C_ENST00000494078.1_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	685					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCGCCAGCCCCAAAGTGAG	0.587																																					p.A685A													.	CLCNKB	50		0			c.C2055T												66	64	65					1																	16383402		2203	4300	6503	SO:0001819	synonymous_variant	1188	exon20			GCCAGCCCCAAAG	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.2055C>T	1.37:g.16383402C>T			512	0.001953125	1		372	0.01	5	NM_000085	2	0	0	B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	CCDS168.1																																																																																					0.587	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000026331.1		NM_000085		T	16383402	C	T	16383402	2	4	53	1	0	0	0	0	0	0	0	1	3472	610	22	3		3	CLCNKB	1	16383402	Silent	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10		16383402	232867219	1	3741											
SERINC2	347735	broad.mit.edu	37	chr1	31897662	31897662	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccttcttcttctttttcAccctgctcatgctctgcgtg	2	17	7	15	2	6	0	2	0	4	0	6	0	6	0	2	1	3	2	2	1	0	5			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:31897662A>C	ENST00000373709.3	+	3	484	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.T116P|SERINC2_ENST00000536859.1_Missense_Mutation_p.T116P|SERINC2_ENST00000373710.1_Missense_Mutation_p.T121P	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	112					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		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;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTTCTTTTTCACCCTGCTCAT	0.657																																					p.T121P													.	SERINC2	44		0			c.A361C												18	19	19					1																	31897662		2203	4299	6502	SO:0001583	missense	347735	exon4			TTTTTCACCCTGC	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.334A>C	1.37:g.31897662A>C	ENSP00000362813:p.Thr112Pro		161	0.2236024845	36		99	0.2	20	NM_001199038	11	0.09	1	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.027057	0.35797	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	4.3	1.86	0.25419	.	0.398700	0.29355	N	0.012382	T	0.11879	0.0289	L	0.43152	1.355	0.28690	N	0.90465	B;B;B;P	0.35328	0.33;0.33;0.33;0.495	B;B;B;B	0.41412	0.356;0.356;0.356;0.356	T	0.12192	-1.0557	10	0.41790	T	0.15	-30.1886	2.2137	0.03955	0.3941:0.0:0.1942:0.4117	.	116;121;116;112	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	P	121;116;112;116	ENSP00000362814:T121P;ENSP00000444307:T116P;ENSP00000362813:T112P;ENSP00000439048:T116P	ENSP00000362813:T112P	T	+	1	0	SERINC2	31670249	0.003000	0.15002	0.968000	0.41197	0.339000	0.28857	0.973000	0.29422	0.183000	0.20059	0.533000	0.62120	ACC			0.657	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010680.1		NM_018565		C	31897662	A	C	31897662	3	2	53	1	0	0	0	0	1	0	0	0	14103	159	6	4	344	4	SERINC2	1	31897662	Missense_Mutation	SNP	A	TCGA-2G-AAHN-01A-11D-A42Y-10	15514260	31897662	217352959	2	3742											
SFPQ	6421	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	35656135	35656135	+	Frame_Shift_Del	DEL	G	G	-																															tcttctgggcaagtttttcaGgaagaccatcttcatcatct																										TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:35656135delG	ENST00000357214.5	-	4	1477	c.1379delC	c.(1378-1380)cctfs	p.P460fs		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	460					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AAGTTTTTCAGGAAGACCATC	0.328			T	TFE3	papillary renal cell																																p.P460fs				Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	SFPQ	51		0			c.1380delT												87	86	87					1																	35656135		2203	4300	6503	SO:0001589	frameshift_variant	6421	exon4			TTTTCAGGAAGAC	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1379delC	1.37:g.35656135delG	ENSP00000349748:p.Pro460fs		395	0	0		356	0.12	43	NM_005066	456	0	0	P30808|Q5SZ71	Frame_Shift_Del	DEL	ENST00000357214.5	37	CCDS388.1																																																																																					0.328	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011984.4		NM_005066		-	35656135	G	-	35656135	7	5	53	1	0	1	0	1	0	0	0	0	14183	1000	35	0	772	0	SFPQ	1	35656135	Frame_Shift_Del	DEL	G	TCGA-2G-AAHN-01A-11D-A42Y-10	3758473	35656135	213594486	3	3743											
ARTN	9048	mdanderson.org	37	chr1	44401810	44401810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggctctgctgagcagcGtcgcagaggcctccctgggc	4	8	14	15	2	2	2	0	1	2	1	4	2	3	2	2	3	3	4	2	3	0	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:44401810G>A	ENST00000372359.5	+	4	888	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	ARTN_ENST00000479128.1_Missense_Mutation_p.V44I|ARTN_ENST00000414809.3_Missense_Mutation_p.V44I|ARTN_ENST00000372354.3_Missense_Mutation_p.V36I|ARTN_ENST00000472435.1_Missense_Mutation_p.V44I|ARTN_ENST00000498139.2_Missense_Mutation_p.V44I|ARTN_ENST00000438616.3_Missense_Mutation_p.V53I	NM_057091.2	NP_476432.2	Q5T4W7	ARTN_HUMAN	artemin	36					axon guidance (GO:0007411)|induction of positive chemotaxis (GO:0050930)|lymphocyte migration into lymphoid organs (GO:0097021)|neuroblast proliferation (GO:0007405)|peripheral nervous system development (GO:0007422)|Peyer's patch morphogenesis (GO:0061146)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCTGAGCAGCGTCGCAGAGGC	0.751																																					p.V44I													.	.			0			c.G130A												11	13	13					1																	44401810		2127	4251	6378	SO:0001583	missense	9048	exon3			AGCAGCGTCGCAG	AF109401	CCDS501.1, CCDS502.1	1p33-p32	2014-01-30			ENSG00000117407	ENSG00000117407		"Endogenous ligands"	727	protein-coding gene	gene with protein product	"neublastin", "neurotrophic factor"	603886				9883723	Standard	NM_057090		Approved	NBN, EVN, ENOVIN	uc001ckt.3	Q5T4W7	OTTHUMG00000007705	ENST00000372359.5:c.106G>A	1.37:g.44401810G>A	ENSP00000361434:p.Val36Ile		16	0	0		17	0.18	3	NM_001136215	1	0	0	D3DPY1|D3DPY3|O95441|O96030|Q6P6A3	Missense_Mutation	SNP	ENST00000372359.5	37	CCDS501.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585667	0.66105	.	.	ENSG00000117407	ENST00000372359;ENST00000414809;ENST00000477048;ENST00000471394;ENST00000498139;ENST00000491846;ENST00000479128;ENST00000472435;ENST00000474592;ENST00000372354;ENST00000438616	D;D;T;T;D;T;T;T;T;D;D	0.85629	-1.95;-1.95;0.33;0.33;-1.95;0.43;0.36;0.36;0.43;-1.95;-2.01	4.01	3.08	0.35506	.	0.128196	0.32868	N	0.005553	T	0.69931	0.3166	L	0.29908	0.895	0.24081	N	0.995943	P;P;P	0.42456	0.78;0.78;0.672	B;B;B	0.28553	0.091;0.091;0.042	T	0.62604	-0.6819	10	0.40728	T	0.16	-13.6255	9.0827	0.36561	0.0:0.0:0.7809:0.2191	.	53;44;36	Q5T4W7-2;Q5T4W7-3;Q5T4W7	.;.;ARTN_HUMAN	I	36;44;36;36;44;44;44;44;44;36;53	ENSP00000361434:V36I;ENSP00000387435:V44I;ENSP00000434784:V36I;ENSP00000435804:V36I;ENSP00000436727:V44I;ENSP00000436149:V44I;ENSP00000434071:V44I;ENSP00000435140:V44I;ENSP00000434856:V44I;ENSP00000361429:V36I;ENSP00000391998:V53I	ENSP00000361429:V36I	V	+	1	0	ARTN	44174397	1.000000	0.71417	0.821000	0.32701	0.943000	0.58893	1.163000	0.31798	1.009000	0.39289	0.491000	0.48974	GTC			0.751	ARTN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000020713.2		NM_057090		A	44401810	G	A	44401810	3	1	53	1	0	0	0	0	1	0	0	0	1001	1145	40	1	223	1	ARTN	1	44401810	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	8745675	44401810	204848811	4	3744											
SLC6A17	388662	mdanderson.org	37	chr1	110740797	110740797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtggtgttcgtcctgCggcacttccacctgctctct	2	14	9	16	2	1	0	0	0	1	0	6	0	4	0	4	2	2	3	4	2	0	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:110740797C>T	ENST00000331565.4	+	12	2400	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	639					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTTCGTCCTGCGGCACTTCCA	0.597																																					p.R639W													.	.			0			c.C1915T												119	93	102					1																	110740797		2203	4300	6503	SO:0001583	missense	388662	exon12			GTCCTGCGGCACT		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1915C>T	1.37:g.110740797C>T	ENSP00000330199:p.Arg639Trp		90	0	0		60	0.07	4	NM_001010898	3	0	0	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087218	0.55968	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75938	-0.98	4.63	3.69	0.42338	.	0.062112	0.64402	D	0.000003	T	0.57755	0.2075	M	0.68728	2.09	0.52501	D	0.999959	B	0.22604	0.072	B	0.27715	0.082	T	0.62506	-0.6840	10	0.72032	D	0.01	.	7.5234	0.27641	0.1758:0.7391:0.0:0.0851	.	639	Q9H1V8	S6A17_HUMAN	W	639	ENSP00000330199:R639W	ENSP00000330199:R639W	R	+	1	2	SLC6A17	110542320	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.960000	0.40422	0.885000	0.36088	0.455000	0.32223	CGG			0.597	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032550.2		XM_371280		T	110740797	C	T	110740797	3	4	53	1	0	0	0	0	1	0	0	0	14703	759	27	1	1957	1	SLC6A17	1	110740797	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	66338987	110740797	138509824	5	3745											
CSDE1	7812	hgsc.bcm.edu;bcgsc.ca	37	chr1	115262299	115262299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtagctcaatgccatccTgaacttctttcacatggaaa	11	12	6	12	0	3	1	2	1	1	0	4	2	4	2	3	1	3	2	3	1	4	3			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:115262299T>C	ENST00000358528.4	-	18	2543	c.2117A>G	c.(2116-2118)cAg>cGg	p.Q706R	CSDE1_ENST00000261443.5_Missense_Mutation_p.Q675R|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000534699.1_Missense_Mutation_p.Q706R|CSDE1_ENST00000369530.1_Missense_Mutation_p.Q721R|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000438362.2_Missense_Mutation_p.Q752R|CSDE1_ENST00000339438.6_Missense_Mutation_p.Q675R|CSDE1_ENST00000530886.1_Missense_Mutation_p.Q576R	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	706	CSD 9.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		AATGCCATCCTGAACTTCTTT	0.438																																					p.Q752R													CSDE1,face,carcinoma,-1,1	CSDE1	-1	1	0			c.A2255G												165	173	170					1																	115262299		2203	4300	6503	SO:0001583	missense	7812	exon19			CCATCCTGAACTT		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.2117A>G	1.37:g.115262299T>C	ENSP00000351329:p.Gln706Arg		152	0	0		106	0.06	6	NM_001242891	1130	0	0	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483279	0.44147	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.17	6.17	0.99709	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.050145	0.85682	D	0.000000	T	0.38374	0.1038	L	0.39147	1.195	0.58432	D	0.999999	P;P;P	0.43231	0.801;0.761;0.531	B;B;B	0.42827	0.258;0.399;0.141	T	0.27571	-1.0070	9	0.14656	T	0.56	-7.632	16.8222	0.85835	0.0:0.0:0.0:1.0	.	721;706;752	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	R	675;752;706;675;576;721;706	.	ENSP00000261443:Q675R	Q	-	2	0	CSDE1	115063822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.844000	0.69430	2.371000	0.80710	0.533000	0.62120	CAG			0.438	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033397.1		NM_007158		C	115262299	T	C	115262299	3	2	53	1	0	0	0	0	1	0	0	0	3931	1580	55	4	291	4	CSDE1	1	115262299	Missense_Mutation	SNP	T	TCGA-2G-AAHN-01A-11D-A42Y-10	4521502	115262299	133988322	6	3746											
CELF3	11189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	151679178	151679178	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccccgcgtaggcctgctGcagggggtccacgggggccg	4	5	17	15	4	0	0	0	0	0	0	2	0	2	0	5	5	2	3	5	5	1	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:151679178G>A	ENST00000290583.4	-	9	1748	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Intron|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Nonsense_Mutation_p.Q269*	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	319					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TAGGCCTGCTGCAGGGGGTCC	0.682																																					p.Q319X													.	.			0			c.C955T												7	9	8					1																	151679178		1891	3607	5498	SO:0001587	stop_gained	11189	exon9			CCTGCTGCAGGGG	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.955C>T	1.37:g.151679178G>A	ENSP00000290583:p.Gln319*		126	0	0		94	0.13	12	NM_007185	0		0	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Nonsense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	44	11.128638	0.99520	.	.	ENSG00000159409	ENST00000290585;ENST00000290583	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.4739	15.9059	0.79430	0.0:0.0:1.0:0.0	.	.	.	.	X	269;319	.	ENSP00000290583:Q319X	Q	-	1	0	CELF3	149945802	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.193000	0.72075	2.325000	0.78763	0.561000	0.74099	CAG			0.682	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000036663.2		NM_007185		A	151679178	G	A	151679178	4	1	53	1	0	0	0	0	0	1	0	0	3219	1328	46	2	458	2	CELF3	1	151679178	Nonsense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	36416879	151679178	97571443	7	3747											
VANGL2	57216	mdanderson.org	37	chr1	160388802	160388802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgtaggatgacaactGgggggaaacgacgacagtag	12	6	15	8	2	0	1	0	1	0	0	0	5	0	3	1	4	3	2	1	4	4	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:160388802G>T	ENST00000368061.2	+	4	677	c.203G>T	c.(202-204)tGg>tTg	p.W68L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	68					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.E70fs*17(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGACAACTGGGGGGAAACG	0.557																																					p.W68L													.	.			1	Insertion - Frameshift(1)	large_intestine(1)	c.G203T												82	82	82					1																	160388802		2203	4300	6503	SO:0001583	missense	57216	exon4			ACAACTGGGGGGA	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.203G>T	1.37:g.160388802G>T	ENSP00000357040:p.Trp68Leu		114	0	0		86	0.05	4	NM_020335	2	0	0	D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371505	0.82573	.	.	ENSG00000162738	ENST00000368061	D	0.88509	-2.39	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	M	0.90252	3.1	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.95789	0.8823	10	0.87932	D	0	-12.4429	16.2429	0.82424	0.0:0.0:1.0:0.0	.	68	Q9ULK5	VANG2_HUMAN	L	68	ENSP00000357040:W68L	ENSP00000357040:W68L	W	+	2	0	VANGL2	158655426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.341000	0.97041	2.232000	0.73038	0.563000	0.77884	TGG			0.557	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080677.1		NM_020335		T	160388802	G	T	160388802	3	4	53	1	0	0	0	0	1	0	0	0	17144	1357	47	3	213	3	VANGL2	1	160388802	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	8709624	160388802	88861819	8	3748											
CABC1	56997	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	227171330	227171332	+	In_Frame_Del	DEL	AGA	AGA	-																															aacatgagcaacatgcttccAgaaggtctgaggctaggtgg																										TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	AGA	AGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:227171330_227171332delAGA	ENST00000366779.1	+	14	3929_3931	c.1158_1160delAGA	c.(1156-1161)ccagaa>cca	p.E387del	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_In_Frame_Del_p.E108del|ADCK3_ENST00000366778.1_In_Frame_Del_p.E335del|ADCK3_ENST00000366777.3_In_Frame_Del_p.E387del|ADCK3_ENST00000433743.2_In_Frame_Del_p.E61del			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	387	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						ACATGCTTCCAGAAGGTCTGAGG	0.596																																					p.386_387del													.	ADCK3	77		0			c.1157_1159del																																									SO:0001651	inframe_deletion	56997	exon9			GCTTCCAGAAGGT	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1158_1160delAGA	1.37:g.227171330_227171332delAGA	ENSP00000355741:p.Glu387del		183	0	0		141	0.13	18	NM_020247	52	0	0	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	In_Frame_Del	DEL	ENST00000366779.1	37	CCDS1557.1																																																																																					0.596	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091712.1		NM_020247		-	227171332	AGA	-	227171330	7	5	53	1	0	1	0	1	0	0	0	0	2529	175	7	0	1188	0	CABC1	1	227171330	In_Frame_Del	DEL	AGA	TCGA-2G-AAHN-01A-11D-A42Y-10	66782528	227171330	22079291	9	3749											
FMN2	56776	mdanderson.org	37	chr1	240256436	240256436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcccccgtgcgaggggctGgggacacggatgaggagggt	7	4	21	9	3	0	1	0	1	0	0	0	6	0	4	2	7	2	1	2	7	0	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr1:240256436G>T	ENST00000319653.9	+	1	1257	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	343					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGAGGGGCTGGGGACACGGA	0.726																																					p.G343W													.	.			0			c.G1027T												5	7	6					1																	240256436		1632	3487	5119	SO:0001583	missense	56776	exon1			GGGGCTGGGGACA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1027G>T	1.37:g.240256436G>T	ENSP00000318884:p.Gly343Trp		29	0	0		15	0.13	2	NM_020066	7	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	8.760	0.923363	0.18056	.	.	ENSG00000155816	ENST00000319653	T	0.36340	1.26	3.71	3.71	0.42584	.	0.434742	0.20408	N	0.092919	T	0.41073	0.1143	L	0.40543	1.245	0.51482	D	0.99992	D	0.58620	0.983	P	0.53006	0.715	T	0.40213	-0.9575	10	0.87932	D	0	.	12.6811	0.56922	0.0:0.0:1.0:0.0	.	343	Q9NZ56	FMN2_HUMAN	W	343	ENSP00000318884:G343W	ENSP00000318884:G343W	G	+	1	0	FMN2	238323059	0.947000	0.32204	0.231000	0.23993	0.784000	0.44337	2.943000	0.49026	2.051000	0.60960	0.407000	0.27541	GGG			0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		T	240256436	G	T	240256436	3	4	53	1	0	0	0	0	1	0	0	0	5963	1348	47	3	1029	3	FMN2	1	240256436	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	13085106	240256436	8994185	10	3750											
FAM110C	642273	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	45630	45630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgccggaggtggcgacGctcacgctgcgcaccttgag	5	6	15	15	6	1	1	1	1	0	0	1	3	1	2	3	3	2	4	3	3	0	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr2:45630G>A	ENST00000327669.4	-	1	755	c.756C>T	c.(754-756)agC>agT	p.S252S	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	252					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)		AGGTGGCGACGCTCACGCTGC	0.697																																					p.S252S													.	.			0			c.C756T												17	23	21					2																	45630		2125	4232	6357	SO:0001819	synonymous_variant	642273	exon1			GGCGACGCTCACG	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.756C>T	2.37:g.45630G>A			101	0	0		66	0.17	11	NM_001077710	0		0		Silent	SNP	ENST00000327669.4	37	CCDS42645.1																																																																																					0.697	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322220.1		NM_001077710		A	45630	G	A	45630	2	1	53	1	0	0	0	0	0	0	0	1	5408	1078	38	1		1	FAM110C	2	45630	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		45630	243153743	11	3751											
GDF7	151449	broad.mit.edu	37	chr2	20870840	20870840	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagggcagcggcgggggCgcgggccggggccacgggcg	3	0	25	13	8	0	0	0	0	0	0	0	0	0	0	2	8	1	2	2	8	0	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr2:20870840C>G	ENST00000272224.3	+	2	1584	c.1008C>G	c.(1006-1008)ggC>ggG	p.G336G		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	336					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|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 tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gcggcgggggcgcgggccggg	0.751																																					p.G336G													.	GDF7	21		0			c.C1008G												4	5	5					2																	20870840		1879	3708	5587	SO:0001819	synonymous_variant	151449	exon2			CGGGGGCGCGGGC	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1008C>G	2.37:g.20870840C>G			27	0.1111111111	3		31	0.26	8	NM_182828	0		0		Silent	SNP	ENST00000272224.3	37	CCDS1701.1																																																																																					0.751	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207563.2		NM_182828		G	20870840	C	G	20870840	2	3	53	1	0	0	0	0	0	0	0	1	6332	755	27	5		5	GDF7	2	20870840	Silent	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	20825210	20870840	222328533	12	3752											
C2orf39	92749	mdanderson.org	37	chr2	26672887	26672887	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcatagagagcaagctGctgagccttctcctgcccct	7	11	8	15	0	2	2	1	1	1	1	4	3	3	2	5	0	5	3	5	0	2	3			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr2:26672887G>A	ENST00000288710.2	+	12	1607	c.1533G>A	c.(1531-1533)ctG>ctA	p.L511L		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	511					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)											AGAGCAAGCTGCTGAGCCTTC	0.612																																					p.L511L													.	.			0			c.G1533A												69	62	64					2																	26672887		2203	4300	6503	SO:0001819	synonymous_variant	92749	exon12			CAAGCTGCTGAGC	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.1533G>A	2.37:g.26672887G>A			65	0	0		45	0.07	3	NM_145038	3	0	0	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	CCDS1723.1																																																																																					0.612	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246862.1		NM_145038		A	26672887	G	A	26672887	2	1	53	1	0	0	0	0	0	0	0	1	2166	1306	46	2		2	C2orf39	2	26672887	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	5802047	26672887	216526486	13	3753											
GPAT2	150763	mdanderson.org	37	chr2	96690240	96690240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtgccaggtgtgtgaggCctgggccaggctgcggcacc	4	8	18	11	1	0	1	0	1	0	0	0	1	0	1	4	5	2	3	4	5	0	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr2:96690240C>T	ENST00000434632.1	-	16	2063	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	GPAT2_ENST00000453542.1_Missense_Mutation_p.G464D|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.G535D|GPAT2_ENST00000377137.3_Missense_Mutation_p.G535D			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	535					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GTGTGTGAGGCCTGGGCCAGG	0.672																																					p.G535D													.	.			0			c.G1604A												53	59	57					2																	96690240		2155	4239	6394	SO:0001583	missense	150763	exon15			GTGAGGCCTGGGC	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1604G>A	2.37:g.96690240C>T	ENSP00000389395:p.Gly535Asp		63	0	0		41	0.07	3	NM_207328	12	0	0	Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.520245	0.44866	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.76578	-1.02;-1.02;-0.03;-1.03	4.63	3.72	0.42706	.	0.278204	0.34777	N	0.003696	T	0.80003	0.4544	L	0.44542	1.39	0.30050	N	0.811829	D;D;D;D;D	0.89917	1.0;0.972;0.981;0.996;0.996	D;P;P;P;D	0.73708	0.964;0.673;0.765;0.866;0.981	T	0.72014	-0.4418	10	0.21014	T	0.42	-8.852	9.8026	0.40773	0.0:0.7719:0.2281:0.0	.	464;535;541;535;464	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	D	535;535;464;535	ENSP00000352547:G535D;ENSP00000389395:G535D;ENSP00000393770:G464D;ENSP00000366341:G535D	ENSP00000352547:G535D	G	-	2	0	GPAT2	96053967	0.379000	0.25123	0.994000	0.49952	0.209000	0.24338	2.509000	0.45459	2.418000	0.82041	0.637000	0.83480	GGC			0.672	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338786.1		NM_207328		T	96690240	C	T	96690240	3	4	53	1	0	0	0	0	1	0	0	0	6603	739	26	2	815	2	GPAT2	2	96690240	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	70017353	96690240	146509133	14	3754											
SCN7A	6332	broad.mit.edu	37	chr2	167328934	167328934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacaagtatttcaaatgtGtaaattccaagcaaagtatt	16	15	5	5	0	1	0	1	0	0	0	2	0	2	0	1	0	2	4	1	0	9	8			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr2:167328934G>A	ENST00000409855.1	-	5	591	c.465C>T	c.(463-465)taC>taT	p.Y155Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	155					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTCAAATGTGTAAATTCCAA	0.348																																					p.Y155Y													.	SCN7A	410		0			c.C465T												46	45	45					2																	167328934		1841	4096	5937	SO:0001819	synonymous_variant	6332	exon5			AAATGTGTAAATT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.465C>T	2.37:g.167328934G>A			626	0.0047923323	3		449	0.02	10	NM_002976	0		0		Silent	SNP	ENST00000409855.1	37	CCDS46442.1																																																																																					0.348	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333745.1				A	167328934	G	A	167328934	2	1	53	1	0	0	0	0	0	0	0	1	13946	1372	48	3		3	SCN7A	2	167328934	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	70638694	167328934	75870439	15	3755											
SMARCAL1	50485	broad.mit.edu	37	chr2	217297481	217297481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctgctgctcgctgacGacatgggcctggggaagacc	6	6	15	14	3	0	2	0	1	0	1	1	4	0	3	4	3	2	3	4	3	1	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr2:217297481G>T	ENST00000357276.4	+	8	1705	c.1375G>T	c.(1375-1377)Gac>Tac	p.D459Y	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D459Y|SMARCAL1_ENST00000479008.1_3'UTR	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	459	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		GCTCGCTGACGACATGGGCCT	0.597									Schimke Immuno-Osseous Dysplasia																												p.D459Y													.	SMARCAL1	93		0			c.G1375T												79	68	72					2																	217297481		2203	4300	6503	SO:0001583	missense	50485	exon8	Familial Cancer Database	SIOD	GCTGACGACATGG	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.1375G>T	2.37:g.217297481G>T	ENSP00000349823:p.Asp459Tyr		239	0	0		172	0.03	5	NM_014140	69	0	0	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087139	0.94100	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.94537	-3.45;-3.45;-3.45	5.5	5.5	0.81552	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99308	1.0903	10	0.87932	D	0	-26.9701	18.1332	0.89608	0.0:0.0:1.0:0.0	.	459	Q9NZC9	SMAL1_HUMAN	Y	459;459;323	ENSP00000349823:D459Y;ENSP00000350940:D459Y;ENSP00000375974:D323Y	ENSP00000349823:D459Y	D	+	1	0	SMARCAL1	217005726	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.412000	0.97347	2.861000	0.98227	0.655000	0.94253	GAC			0.597	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256671.2				T	217297481	G	T	217297481	3	4	53	1	0	0	0	0	1	0	0	0	14796	1058	37	1	1397	1	SMARCAL1	2	217297481	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	49968547	217297481	25901892	16	3756											
VIL1	7429	mdanderson.org	37	chr2	219289058	219289058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcttcttcgatggtgactGctacatcatcctggctgtga	8	13	10	10	1	2	2	1	2	1	0	4	3	3	2	1	2	3	3	1	2	2	3			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr2:219289058G>A	ENST00000248444.5	+	3	222	c.134G>A	c.(133-135)tGc>tAc	p.C45Y	VIL1_ENST00000440053.1_Missense_Mutation_p.C45Y|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	45	Core.|Necessary for homodimerization.				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)		GATGGTGACTGCTACATCATC	0.607																																					p.C45Y													.	.			0			c.G134A												88	82	84					2																	219289058		2203	4300	6503	SO:0001583	missense	7429	exon3			GTGACTGCTACAT	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.134G>A	2.37:g.219289058G>A	ENSP00000248444:p.Cys45Tyr		57	0	0		54	0.06	3	NM_007127	0		0	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600243	0.66332	.	.	ENSG00000127831	ENST00000248444;ENST00000454069;ENST00000440053	T;T;T	0.58940	0.3;0.3;0.3	4.16	4.16	0.48862	Gelsolin domain (1);	0.068296	0.64402	D	0.000013	T	0.81861	0.4912	H	0.95151	3.63	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.87150	0.2208	10	0.87932	D	0	-23.3795	13.3092	0.60370	0.0:0.1596:0.8404:0.0	.	45;45	Q96AC8;P09327	.;VILI_HUMAN	Y	45	ENSP00000248444:C45Y;ENSP00000412657:C45Y;ENSP00000409270:C45Y	ENSP00000248444:C45Y	C	+	2	0	VIL1	218997302	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.464000	0.80887	2.163000	0.67991	0.313000	0.20887	TGC			0.607	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256778.3		NM_007127		A	219289058	G	A	219289058	3	1	53	1	0	0	0	0	1	0	0	0	17188	1319	46	2	140	2	VIL1	2	219289058	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	1991577	219289058	23910315	17	3757											
STAC	6769	mdanderson.org	37	chr3	36587768	36587768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcatcccccttgatgtacTagaaaacatctgattgctgg	10	12	7	12	0	2	3	1	2	1	1	3	3	3	3	3	1	3	2	3	1	4	4			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr3:36587768T>C	ENST00000273183.3	+	11	1496	c.1196T>C	c.(1195-1197)cTa>cCa	p.L399P	STAC_ENST00000457375.2_Missense_Mutation_p.L338P	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	399					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CTTGATGTACTAGAAAACATC	0.493																																					p.L399P													.	.			0			c.T1196C												151	131	138					3																	36587768		2203	4300	6503	SO:0001583	missense	6769	exon11			ATGTACTAGAAAA	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1196T>C	3.37:g.36587768T>C	ENSP00000273183:p.Leu399Pro		108	0	0		58	0.05	3	NM_003149	1	0	0	B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003038	0.74932	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687	T;T	0.10960	2.82;2.82	5.17	5.17	0.71159	Src homology-3 domain (1);Variant SH3 (1);	0.074155	0.56097	D	0.000036	T	0.33904	0.0879	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.10200	-1.0640	10	0.87932	D	0	.	13.5546	0.61751	0.0:0.0:0.0:1.0	.	338;399	E9PEA7;Q99469	.;STAC_HUMAN	P	399;338;331	ENSP00000273183:L399P;ENSP00000393713:L338P	ENSP00000273183:L399P	L	+	2	0	STAC	36562772	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.936000	0.70153	2.074000	0.62210	0.533000	0.62120	CTA			0.493	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253338.2		NM_003149		C	36587768	T	C	36587768	3	2	53	1	0	0	0	0	1	0	0	0	15262	1522	53	4	1238	4	STAC	3	36587768	Missense_Mutation	SNP	T	TCGA-2G-AAHN-01A-11D-A42Y-10		36587768	161434662	18	3758											
TWF2	11344	mdanderson.org	37	chr3	52264021	52264021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggggcacccgggagggCagctgggccacatccgtggg	5	5	18	13	3	1	0	0	0	1	0	3	1	2	1	3	6	1	3	3	6	0	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr3:52264021C>T	ENST00000305533.5	-	7	918	c.675G>A	c.(673-675)ctG>ctA	p.L225L	TLR9_ENST00000597542.1_5'UTR|TLR9_ENST00000494383.1_Missense_Mutation_p.A86T|TWF2_ENST00000499914.2_Silent_p.L225L	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	225	ADF-H 2. {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)		CCCGGGAGGGCAGCTGGGCCA	0.632																																					p.L225L													.	.			0			c.G675A												47	53	51					3																	52264021		2203	4300	6503	SO:0001819	synonymous_variant	11344	exon7			GGAGGGCAGCTGG	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.675G>A	3.37:g.52264021C>T			49	0	0		18	0.11	2	NM_007284	343	0	0	Q9Y3F5	Silent	SNP	ENST00000305533.5	37	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	C	8.156	0.788352	0.16258	.	.	ENSG00000173366	ENST00000494383	.	.	.	5.17	2.3	0.28687	.	.	.	.	.	T	0.54062	0.1835	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45145	-0.9281	4	.	.	.	.	6.0492	0.19777	0.0:0.6437:0.1352:0.2211	.	.	.	.	T	86	.	.	A	-	1	0	RP11-330H6.5	52239061	0.977000	0.34250	0.999000	0.59377	0.714000	0.41099	0.239000	0.18023	0.589000	0.29677	-0.258000	0.10820	GCC			0.632	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350199.2				T	52264021	C	T	52264021	2	4	53	1	0	0	0	0	0	0	0	1	16806	697	25	2		2	TWF2	3	52264021	Silent	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	15676253	52264021	145758409	19	3759											
LRRC66	339977	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	52883329	52883329	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaagaatgagcacctTcagcaatggaaacctgtttc	12	12	8	9	0	2	3	1	2	1	1	3	4	2	4	2	1	3	3	2	1	4	3			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr4:52883329T>A	ENST00000343457.3	-	1	457	c.451A>T	c.(451-453)Aag>Tag	p.K151*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	151						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGAGCACCTTCAGCAATGGA	0.443																																					p.K151X													.	.			0			c.A451T												158	146	150					4																	52883329		1921	4137	6058	SO:0001587	stop_gained	339977	exon1			GCACCTTCAGCAA	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.451A>T	4.37:g.52883329T>A	ENSP00000341944:p.Lys151*		270	0	0		157	0.28	44	NM_001024611	0		0		Nonsense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098519	0.56183	.	.	ENSG00000188993	ENST00000343457	.	.	.	5.75	3.24	0.37175	.	0.300747	0.24122	N	0.041342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1515	11.292	0.49256	0.0:0.0:0.2899:0.7101	.	.	.	.	X	151	.	ENSP00000341944:K151X	K	-	1	0	LRRC66	52578086	0.990000	0.36364	0.769000	0.31535	0.046000	0.14306	2.216000	0.42871	0.402000	0.25451	0.528000	0.53228	AAG			0.443	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361473.1		NM_001024611		A	52883329	T	A	52883329	4	1	53	1	0	0	0	0	0	1	0	0	9034	1792	62	5	2207	5	LRRC66	4	52883329	Nonsense_Mutation	SNP	T	TCGA-2G-AAHN-01A-11D-A42Y-10		52883329	138270947	20	3760											
KIT	3815	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599338	55599338	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacatcaagaatgattctAattatgtggttaaaggaaac	17	11	9	4	0	2	3	1	1	1	2	2	5	2	4	0	2	1	1	0	2	7	4			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr4:55599338A>T	ENST00000288135.5	+	17	2561	c.2464A>T	c.(2464-2466)Aat>Tat	p.N822Y		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> K (in a germ cell tumor of the testis; somatic mutation). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N822Y(5)|p.N822H(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAATGATTCTAATTATGTGGT	0.378		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.N822Y			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,malignant_melanoma,0,44	KIT	7396	44	6	Substitution - Missense(6)	genital_tract(2)|testis(1)|haematopoietic_and_lymphoid_tissue(1)|soft_tissue(1)|skin(1)	c.A2464T	GRCh37	CM087050	KIT	M								146	149	148					4																	55599338		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GATTCTAATTATG	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2464A>T	4.37:g.55599338A>T	ENSP00000288135:p.Asn822Tyr		107	0	0		83	0.23	19	NM_000222	83	0.7	58	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416486	0.83449	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82255	-1.59;-1.59	5.47	5.47	0.80525	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	0.000009	D	0.85080	0.5615	N	0.20445	0.575	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.92;1.0	D	0.87693	0.2555	10	0.87932	D	0	.	15.5485	0.76129	1.0:0.0:0.0:0.0	.	818;822	P10721-2;P10721	.;KIT_HUMAN	Y	822;818	ENSP00000288135:N822Y;ENSP00000390987:N818Y	ENSP00000288135:N822Y	N	+	1	0	KIT	55294095	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.138000	0.94501	2.084000	0.62774	0.477000	0.44152	AAT			0.378	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55599338	A	T	55599338	3	4	53	1	0	0	0	0	1	0	0	0	8344	362	13	5	2530	5	KIT	4	55599338	Missense_Mutation	SNP	A	TCGA-2G-AAHN-01A-11D-A42Y-10	2716009	55599338	135554938	21	3761											
PHF15	23338	mdanderson.org	37	chr5	133914249	133914249	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggctggcacagtcggtgCagatcacagcagagaacatg	11	6	14	10	1	1	2	1	0	0	2	2	3	1	2	0	3	3	5	0	3	1	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr5:133914249C>T	ENST00000282605.4	+	12	1833	c.1747C>T	c.(1747-1749)Cag>Tag	p.Q583*	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000395003.1_Nonsense_Mutation_p.Q539*|PHF15_ENST00000361895.2_Nonsense_Mutation_p.Q540*																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGTCGGTGCAGATCACAGC	0.607																																					p.Q539X													.	.			0			c.C1615T												109	105	106					5																	133914249		2203	4300	6503	SO:0001587	stop_gained	23338	exon11			TCGGTGCAGATCA																												ENST00000282605.4:c.1747C>T	5.37:g.133914249C>T	ENSP00000282605:p.Gln583*		77	0	0		42	0.07	3	NM_015288	77	0	0		Nonsense_Mutation	SNP	ENST00000282605.4	37		.	.	.	.	.	.	.	.	.	.	c	38	7.137059	0.98088	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	.	.	.	5.34	5.34	0.76211	.	0.519603	0.19238	N	0.119257	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	19.0378	0.92986	0.0:1.0:0.0:0.0	.	.	.	.	X	583;599;583;540;540;539	.	ENSP00000282605:Q583X	Q	+	1	0	PHF15	133942148	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.217000	0.77982	2.517000	0.84864	0.306000	0.20318	CAG			0.607	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000251170.1				T	133914249	C	T	133914249	4	4	53	1	0	0	0	0	0	1	0	0	11843	711	25	2	1653	2	PHF15	5	133914249	Nonsense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10		133914249	47001011	22	3762											
CD14	929	mdanderson.org	37	chr5	140011945	140011945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccatcagtccgcgttcGcccagtccaggattgtcaga	7	8	11	15	4	2	1	2	0	0	1	5	2	4	2	5	1	0	1	5	1	0	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr5:140011945G>A	ENST00000302014.6	-	2	1253	c.624C>T	c.(622-624)ggC>ggT	p.G208G	CD14_ENST00000401743.2_Silent_p.G208G	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	208					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCGCGTTCGCCCAGTCCAG	0.617																																					p.G208G													.	.			0			c.C624T												56	61	59					5																	140011945		2203	4300	6503	SO:0001819	synonymous_variant	929	exon3			GCGTTCGCCCAGT		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.624C>T	5.37:g.140011945G>A			86	0	0		38	0.08	3	NM_001174105	830	0	0	Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	CCDS4232.1																																																																																					0.617	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251681.2		NM_000591		A	140011945	G	A	140011945	2	1	53	1	0	0	0	0	0	0	0	1	2966	1074	38	1		1	CD14	5	140011945	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	6097696	140011945	40903315	23	3763											
TULP1	7287	mdanderson.org	37	chr6	35471611	35471611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagaccgtgaagcggttcCccaggaggttggacctgcaa	11	6	13	11	2	0	2	0	1	0	1	1	4	1	4	4	4	2	3	4	4	3	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr6:35471611C>A	ENST00000229771.6	-	12	1206	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	TULP1_ENST00000322263.4_Missense_Mutation_p.G323V	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	376					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						GAAGCGGTTCCCCAGGAGGTT	0.597																																					p.G376V	GBM(55;1027 1091 11115 23439)												.	.			0			c.G1127T												41	36	38					6																	35471611		2203	4300	6503	SO:0001583	missense	7287	exon12			CGGTTCCCCAGGA	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.1127G>T	6.37:g.35471611C>A	ENSP00000229771:p.Gly376Val		40	0	0		37	0.08	3	NM_003322	0		0	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675829	0.88445	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.92446	-3.04;-3.04	4.95	4.95	0.65309	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99885	1.1120	10	0.87932	D	0	-4.3509	18.2016	0.89840	0.0:1.0:0.0:0.0	.	323;376	O00294-2;O00294	.;TULP1_HUMAN	V	376;323	ENSP00000229771:G376V;ENSP00000319414:G323V	ENSP00000229771:G376V	G	-	2	0	TULP1	35579589	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.685000	0.84117	2.287000	0.76781	0.491000	0.48974	GGG			0.597	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040307.2				A	35471611	C	A	35471611	3	1	53	1	0	0	0	0	1	0	0	0	16797	623	22	3	517	3	TULP1	6	35471611	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10		35471611	135643456	24	3764											
TDRD6	221400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	46661672	46661672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcacaggaatccatgtGtactgaggacatgagaaagt	16	7	12	6	0	0	2	0	2	0	1	1	6	1	4	1	2	2	2	1	2	4	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr6:46661672G>A	ENST00000316081.6	+	1	5807	c.5807G>A	c.(5806-5808)tGt>tAt	p.C1936Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.C1936Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1936					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)			GAATCCATGTGTACTGAGGAC	0.433																																					p.C1936Y													.	.			0			c.G5807A												153	147	149					6																	46661672		2203	4300	6503	SO:0001583	missense	221400	exon1			CCATGTGTACTGA	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.5807G>A	6.37:g.46661672G>A	ENSP00000346065:p.Cys1936Tyr		258	0	0		184	0.1	19	NM_001168359	7	0.14	1	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599441	0.03744	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.16743	2.32;2.33	5.56	1.71	0.24356	.	0.619922	0.15419	N	0.263338	T	0.04003	0.0112	L	0.47716	1.5	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.14023	0.01;0.005	T	0.41716	-0.9493	10	0.25751	T	0.34	-1.5168	3.7218	0.08459	0.3207:0.0:0.5154:0.1639	.	1936;1936	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1936	ENSP00000443299:C1936Y;ENSP00000346065:C1936Y	ENSP00000346065:C1936Y	C	+	2	0	TDRD6	46769631	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.346000	0.19997	0.269000	0.21961	0.557000	0.71058	TGT			0.433	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040800.1		XM_166443		A	46661672	G	A	46661672	3	1	53	1	0	0	0	0	1	0	0	0	15757	1377	48	3	5809	3	TDRD6	6	46661672	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	11190061	46661672	124453395	25	3765											
RADIL	55698	mdanderson.org	37	chr7	4845284	4845284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagctggtagtgagtcaGcagccggtgcagctgtgctg	6	8	17	10	1	1	1	1	1	0	0	1	1	1	1	2	3	6	6	2	3	1	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr7:4845284G>A	ENST00000399583.3	-	10	2390	c.2203C>T	c.(2203-2205)Ctg>Ttg	p.L735L	RADIL_ENST00000538469.1_Silent_p.L495L|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	735	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TAGTGAGTCAGCAGCCGGTGC	0.667																																					p.L735L													.	.			0			c.C2203T												21	27	25					7																	4845284		2102	4268	6370	SO:0001819	synonymous_variant	55698	exon10			GAGTCAGCAGCCG	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2203C>T	7.37:g.4845284G>A			66	0	0		49	0.06	3	NM_018059	14	0	0	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1																																																																																					0.667	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323769.2		NM_018059		A	4845284	G	A	4845284	2	1	53	1	0	0	0	0	0	0	0	1	13020	962	34	2		2	RADIL	7	4845284	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		4845284	154293379	26	3766											
DDC	1644	broad.mit.edu	37	chr7	50611732	50611732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgccttccatgtagttggCcatgtaatccaccatctcct	9	13	6	13	0	1	0	0	0	1	0	4	0	3	0	6	1	1	3	6	1	3	4			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr7:50611732C>T	ENST00000444124.2	-	2	252	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	DDC_ENST00000431062.1_Missense_Mutation_p.A18T|DDC_ENST00000357936.5_Missense_Mutation_p.A18T|DDC_ENST00000426377.1_Missense_Mutation_p.A18T|DDC_ENST00000380984.4_Missense_Mutation_p.A18T|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	18					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	ATGTAGTTGGCCATGTAATCC	0.562																																					p.A18T													.	DDC	100		0			c.G52A												269	207	228					7																	50611732		2203	4300	6503	SO:0001583	missense	1644	exon2			AGTTGGCCATGTA		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.52G>A	7.37:g.50611732C>T	ENSP00000403644:p.Ala18Thr		345	0.0028985507	1		272	0.02	5	NM_001082971	0		0	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966936	0.92855	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984;ENST00000420203	T;T;T;T;T;T	0.69175	1.08;1.08;1.08;1.08;1.08;-0.38	5.92	5.92	0.95590	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.75788	0.3897	M	0.85197	2.74	0.80722	D	1	D;D	0.54964	0.969;0.969	P;P	0.45138	0.471;0.471	T	0.79266	-0.1874	10	0.51188	T	0.08	0.3276	20.3248	0.98698	0.0:1.0:0.0:0.0	.	18;18	Q53Y41;P20711	.;DDC_HUMAN	T	18	ENSP00000350616:A18T;ENSP00000399184:A18T;ENSP00000395069:A18T;ENSP00000403644:A18T;ENSP00000370371:A18T;ENSP00000408626:A18T	ENSP00000350616:A18T	A	-	1	0	DDC	50579226	1.000000	0.71417	0.916000	0.36221	0.628000	0.37860	4.838000	0.62803	2.818000	0.97014	0.655000	0.94253	GCC			0.562	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342593.1				T	50611732	C	T	50611732	3	4	53	1	0	0	0	0	1	0	0	0	4327	739	26	2	1442	2	DDC	7	50611732	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	45766448	50611732	108526931	27	3767											
COBL	23242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	51096848	51096848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcacagccatacactttgtCtttcacttttgcatttaggt	9	16	6	10	0	2	0	1	0	1	0	2	0	2	0	1	1	4	2	1	1	2	7			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr7:51096848C>G	ENST00000265136.7	-	10	2110	c.1945G>C	c.(1945-1947)Gac>Cac	p.D649H	COBL_ENST00000395542.2_Missense_Mutation_p.D731H	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	649					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)					TACACTTTGTCTTTCACTTTT	0.458																																					p.D649H	NSCLC(189;2119 2138 12223 30818 34679)												.	.			0			c.G1945C												143	128	133					7																	51096848		2203	4300	6503	SO:0001583	missense	23242	exon10			CTTTGTCTTTCAC	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.1945G>C	7.37:g.51096848C>G	ENSP00000265136:p.Asp649His		248	0	0		197	0.22	43	NM_015198	0		0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314671	0.40996	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.51	1.26	0.21427	.	2.197360	0.01696	N	0.026931	T	0.34337	0.0894	L	0.34521	1.04	0.09310	N	1	P;P;P;P;D	0.59357	0.911;0.911;0.855;0.911;0.985	P;P;B;P;P	0.57468	0.562;0.562;0.359;0.66;0.821	T	0.12760	-1.0535	10	0.46703	T	0.11	.	5.9149	0.19050	0.0:0.4817:0.2917:0.2266	.	649;706;649;731;191	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	H	649;541;534;731;147	ENSP00000265136:D649H;ENSP00000401204:D541H;ENSP00000413498:D534H;ENSP00000378912:D731H	ENSP00000265136:D649H	D	-	1	0	COBL	51064342	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.578000	0.05841	0.232000	0.21100	0.655000	0.94253	GAC			0.458	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000342682.1		NM_015198		G	51096848	C	G	51096848	3	3	53	1	0	0	0	0	1	0	0	0	3655	913	32	5	1856	5	COBL	7	51096848	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	485116	51096848	108041815	28	3768											
MAGI2	9863	broad.mit.edu	37	chr7	77797419	77797419	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcaatgacagctccaaTcaaaatctagagaagcagtg	16	7	9	9	0	2	2	1	1	1	1	3	3	3	2	1	1	2	3	1	1	6	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr7:77797419T>A	ENST00000354212.4	-	15	2663	c.2410A>T	c.(2410-2412)Att>Ttt	p.I804F	MAGI2_ENST00000419488.1_Missense_Mutation_p.I790F|MAGI2_ENST00000522391.1_Missense_Mutation_p.I804F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	804	PDZ 4. {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)				ACAGCTCCAATCAAAATCTAG	0.463																																					p.I804F													.	MAGI2	246		0			c.A2410T												83	80	81					7																	77797419		2203	4300	6503	SO:0001583	missense	9863	exon15			CTCCAATCAAAAT	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.2410A>T	7.37:g.77797419T>A	ENSP00000346151:p.Ile804Phe		206	0.0631067961	13		172	0.07	12	NM_012301	0		0	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035756	0.75617	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.58358	0.34;0.47;0.47	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.36665	U	0.002476	T	0.69780	0.3149	H	0.95917	3.74	0.80722	D	1	B;P;B	0.34892	0.008;0.474;0.026	B;B;B	0.36989	0.015;0.238;0.015	T	0.77437	-0.2588	10	0.87932	D	0	.	15.6258	0.76855	0.0:0.0:0.0:1.0	.	804;790;804	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	F	790;804;804;804	ENSP00000405766:I790F;ENSP00000346151:I804F;ENSP00000428389:I804F	ENSP00000346151:I804F	I	-	1	0	MAGI2	77635355	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.284000	0.76573	0.528000	0.53228	ATT			0.463	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253197.3		NM_012301		A	77797419	T	A	77797419	3	1	53	1	0	0	0	0	1	0	0	0	9207	1435	50	5	1989	5	MAGI2	7	77797419	Missense_Mutation	SNP	T	TCGA-2G-AAHN-01A-11D-A42Y-10	26700571	77797419	81341244	29	3769											
PPAPDC1B	84513	hgsc.bcm.edu;mdanderson.org	37	chr8	38124886	38124886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagcccatcagggaagcagCggtagaagaaatctgggcgt	12	6	14	9	2	2	2	1	0	1	2	2	3	2	3	1	3	3	2	1	3	5	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr8:38124886C>T	ENST00000424479.2	-	5	382	c.362G>A	c.(361-363)cGc>cAc	p.R121H	PPAPDC1B_ENST00000531823.1_5'UTR|PPAPDC1B_ENST00000419686.2_Missense_Mutation_p.R121H|PPAPDC1B_ENST00000422581.2_Missense_Mutation_p.R121H|PPAPDC1B_ENST00000529359.1_Missense_Mutation_p.R80H|PPAPDC1B_ENST00000530588.1_5'Flank	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	121					phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGGGAAGCAGCGGTAGAAGAA	0.468																																					p.R121H													.	.			0			c.G362A												91	87	89					8																	38124886		1957	4152	6109	SO:0001583	missense	84513	exon5			AAGCAGCGGTAGA	AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.362G>A	8.37:g.38124886C>T	ENSP00000392553:p.Arg121His		188	0	0		122	0.04	5	NM_032483	54	0	0	C9JKF5|Q3KQX6|Q9BY45	Missense_Mutation	SNP	ENST00000424479.2	37	CCDS47841.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.397062|5.397062	0.96009|0.96009	.|.	.|.	ENSG00000147535|ENSG00000147535	ENST00000534339|ENST00000529359;ENST00000424479;ENST00000524616;ENST00000422581;ENST00000419686	.|T;T;T;T;T	.|0.76316	.|-1.01;-1.01;-1.01;-1.01;-1.01	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91123|0.91123	0.7205|0.7205	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;1.0	D|D	0.93384|0.93384	0.6746|0.6746	5|10	.|0.87932	.|D	.|0	-22.6925|-22.6925	17.2215|17.2215	0.86958|0.86958	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|121;121;121	.|C9JKF5;Q8NEB5-2;Q8NEB5	.|.;.;PPC1B_HUMAN	T|H	115|80;121;102;121;121	.|ENSP00000434916:R80H;ENSP00000392553:R121H;ENSP00000432122:R102H;ENSP00000390622:R121H;ENSP00000414522:R121H	.|ENSP00000414522:R121H	A|R	-|-	1|2	0|0	PPAPDC1B|PPAPDC1B	38244043|38244043	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.597000|7.597000	0.82733|0.82733	2.475000|2.475000	0.83589|0.83589	0.557000|0.557000	0.71058|0.71058	GCT|CGC			0.468	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381832.2		NM_032483		T	38124886	C	T	38124886	3	4	53	1	0	0	0	0	1	0	0	0	12311	768	27	1	533	1	PPAPDC1B	8	38124886	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10		38124886	108239136	30	3770											
MLLT3	4300	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	20414230	20414230	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtctttagaaggttttTccttgtgctccttcattaat	7	19	8	7	0	2	1	1	0	1	1	4	2	4	2	2	2	1	2	2	2	3	7			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr9:20414230T>A	ENST00000380338.4	-	5	900	c.614A>T	c.(613-615)gAa>gTa	p.E205V	MLLT3_ENST00000475957.1_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.E202V	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	205					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		AGAAGGTTTTTCCTTGTGCTC	0.443			T	MLL	ALL																																p.E205V				Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	.	.			0			c.A614T												196	205	202					9																	20414230		2203	4300	6503	SO:0001583	missense	4300	exon5			GGTTTTTCCTTGT	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.614A>T	9.37:g.20414230T>A	ENSP00000369695:p.Glu205Val		271	0	0		185	0.19	36	NM_004529	3	1	3	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373779	0.61624	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.48	5.48	0.80851	.	0.203478	0.50627	D	0.000112	T	0.63698	0.2533	M	0.71036	2.16	0.80722	D	1	D;D	0.54397	0.966;0.966	P;P	0.47299	0.543;0.543	T	0.67465	-0.5664	9	0.46703	T	0.11	-17.4468	15.5535	0.76173	0.0:0.0:0.0:1.0	.	202;205	B7Z755;P42568	.;AF9_HUMAN	V	205;202;244	.	ENSP00000369695:E205V	E	-	2	0	MLLT3	20404230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.887000	0.63156	2.077000	0.62373	0.482000	0.46254	GAA			0.443	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051872.1		NM_004529		A	20414230	T	A	20414230	3	1	53	1	0	0	0	0	1	0	0	0	9644	1783	62	5	1120	5	MLLT3	9	20414230	Missense_Mutation	SNP	T	TCGA-2G-AAHN-01A-11D-A42Y-10		20414230	120799201	31	3771											
COL27A1	85301	mdanderson.org	37	chr9	117002739	117002739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagcccgaggcctgcCgggaccccgtgggcagctgg	4	4	18	15	3	0	0	0	0	0	0	0	3	0	2	6	5	3	2	6	5	0	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr9:117002739C>T	ENST00000356083.3	+	21	3198	c.2807C>T	c.(2806-2808)cCg>cTg	p.P936L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	936	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CGAGGCCTGCCGGGACCCCGT	0.672																																					p.P936L													.	.			0			c.C2807T												74	84	81					9																	117002739		2203	4300	6503	SO:0001583	missense	85301	exon21			GCCTGCCGGGACC	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.2807C>T	9.37:g.117002739C>T	ENSP00000348385:p.Pro936Leu		45	0	0		40	0.08	3	NM_032888	2	0	0	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870594	0.72065	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96136	-3.92	5.91	5.91	0.95273	.	.	.	.	.	D	0.97698	0.9245	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97680	1.0172	9	0.54805	T	0.06	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	936	Q8IZC6	CORA1_HUMAN	L	936	ENSP00000348385:P936L	ENSP00000348385:P936L	P	+	2	0	COL27A1	116042560	0.993000	0.37304	0.994000	0.49952	0.995000	0.86356	3.357000	0.52277	2.793000	0.96121	0.655000	0.94253	CCG			0.672	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053763.1		NM_032888		T	117002739	C	T	117002739	3	4	53	1	0	0	0	0	1	0	0	0	3687	652	23	1	2889	1	COL27A1	9	117002739	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	96588509	117002739	24210692	32	3772											
PIP5KL1	138429	mdanderson.org	37	chr9	130689596	130689596	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctttccccggtccacccGcagactgtgcactcctggaa	6	10	8	17	2	1	1	0	0	1	1	4	2	4	2	5	2	1	2	5	2	1	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr9:130689596G>T	ENST00000388747.4	-	6	618	c.574C>A	c.(574-576)Cgg>Agg	p.R192R	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	192	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CGGTCCACCCGCAGACTGTGC	0.711																																					p.R192R													.	.			0			c.C574A												18	20	20					9																	130689596		1568	3580	5148	SO:0001819	synonymous_variant	138429	exon6			CCACCCGCAGACT	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.574C>A	9.37:g.130689596G>T			68	0	0		49	0.06	3	NM_001135219	0		0	Q8IVS3	Silent	SNP	ENST00000388747.4	37	CCDS48030.1																																																																																					0.711	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054289.2		NM_173492		T	130689596	G	T	130689596	2	4	53	1	0	0	0	0	0	0	0	1	11959	1086	38	1		1	PIP5KL1	9	130689596	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	13686857	130689596	10523835	33	3773											
RET	5979	ucsc.edu	37	chr10	43600502	43600502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacgagctggtggccgtgtGcaccgtgcacgccggcgcgc	4	6	17	14	7	0	0	0	0	0	0	0	1	0	0	3	3	4	4	3	3	1	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr10:43600502G>A	ENST00000355710.3	+	4	960	c.728G>A	c.(727-729)tGc>tAc	p.C243Y	RET_ENST00000340058.5_Missense_Mutation_p.C243Y	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	243	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTGGCCGTGTGCACCGTGCAC	0.731		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																												p.C243Y	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	.	RET	916		0			c.G728A												36	34	35					10																	43600502		2201	4297	6498	SO:0001583	missense	5979	exon4	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	CCGTGTGCACCGT	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.728G>A	10.37:g.43600502G>A	ENSP00000347942:p.Cys243Tyr		50	0	0		35	0.11	4	NM_020975	5	0	0	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.265183	0.80358	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	D;D	0.82344	-1.6;-1.6	4.79	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.134094	0.64402	D	0.000001	D	0.89389	0.6701	M	0.61703	1.905	0.80722	D	1	D;D	0.63880	0.993;0.963	D;P	0.66351	0.943;0.819	D	0.90578	0.4527	10	0.87932	D	0	.	17.6953	0.88279	0.0:0.0:1.0:0.0	.	243;243	P07949;P07949-2	RET_HUMAN;.	Y	243	ENSP00000347942:C243Y;ENSP00000344798:C243Y	ENSP00000344798:C243Y	C	+	2	0	RET	42920508	1.000000	0.71417	0.349000	0.25694	0.376000	0.30014	8.386000	0.90166	2.493000	0.84123	0.550000	0.68814	TGC			0.731	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047694.2		NM_020975		A	43600502	G	A	43600502	3	1	53	1	0	0	0	0	1	0	0	0	13258	1319	46	2	742	2	RET	10	43600502	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		43600502	91934245	34	3774											
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	56077049	56077049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accggagttctcaactcaggTatggcagcttgataagtgag	11	10	12	8	1	2	2	2	2	1	0	3	3	2	3	1	3	2	4	1	3	3	4			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr10:56077049T>C	ENST00000320301.6	-	8	1252	c.858A>G	c.(856-858)atA>atG	p.I286M	PCDH15_ENST00000395438.1_Missense_Mutation_p.I286M|PCDH15_ENST00000395445.1_Missense_Mutation_p.I286M|PCDH15_ENST00000395430.1_Missense_Mutation_p.I286M|PCDH15_ENST00000395446.1_Missense_Mutation_p.I286M|PCDH15_ENST00000395433.1_Missense_Mutation_p.I264M|PCDH15_ENST00000395440.1_Missense_Mutation_p.I286M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.I286M|PCDH15_ENST00000414778.1_Missense_Mutation_p.I291M|PCDH15_ENST00000373957.3_Missense_Mutation_p.I264M|PCDH15_ENST00000395432.2_Missense_Mutation_p.I249M|PCDH15_ENST00000373955.1_Missense_Mutation_p.I286M|PCDH15_ENST00000361849.3_Missense_Mutation_p.I286M|PCDH15_ENST00000437009.1_Missense_Mutation_p.I286M|PCDH15_ENST00000373965.2_Missense_Mutation_p.I286M	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	286	Cadherin 3. {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)			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)				TCAACTCAGGTATGGCAGCTT	0.403										HNSCC(58;0.16)																											p.I291M													.	.			0			c.A873G												116	102	107					10																	56077049		2203	4300	6503	SO:0001583	missense	65217	exon9			CTCAGGTATGGCA	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.858A>G	10.37:g.56077049T>C	ENSP00000322604:p.Ile286Met		118	0	0		75	0.13	10	NM_001142763	0		0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923652	0.52653	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61158	0.36;0.46;0.4;0.33;0.42;0.66;0.49;0.13;0.31;0.37;0.32;0.32;0.32;0.36;0.47	4.77	-2.64	0.06114	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.59266	0.2181	L	0.60845	1.875	0.35613	D	0.80879	D;D;D;D;D;D;D;P;D;D;D;D;P;P;D	0.59357	0.972;0.985;0.985;0.985;0.983;0.985;0.972;0.848;0.985;0.985;0.957;0.957;0.682;0.913;0.985	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.61533	0.866;0.866;0.89;0.89;0.887;0.866;0.866;0.66;0.825;0.825;0.729;0.729;0.564;0.463;0.89	T	0.64512	-0.6390	9	0.87932	D	0	.	0.9715	0.01416	0.4167:0.1188:0.2673:0.1972	.	264;286;286;291;286;249;286;286;286;286;286;291;286;264;286	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	M	286;291;286;286;286;286;286;286;249;286;264;264;286;286;291;286;286	ENSP00000363076:I286M;ENSP00000410304:I291M;ENSP00000378826:I286M;ENSP00000378832:I286M;ENSP00000378833:I286M;ENSP00000378829:I286M;ENSP00000378827:I286M;ENSP00000378820:I249M;ENSP00000354950:I286M;ENSP00000378821:I264M;ENSP00000363068:I264M;ENSP00000322604:I286M;ENSP00000378818:I286M;ENSP00000412628:I286M;ENSP00000363066:I286M	ENSP00000322604:I286M	I	-	3	3	PCDH15	55747055	0.070000	0.21116	0.995000	0.50966	0.997000	0.91878	-0.813000	0.04491	-0.398000	0.07679	0.455000	0.32223	ATA			0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000048121.2		NM_033056		C	56077049	T	C	56077049	3	2	53	1	0	0	0	0	1	0	0	0	11528	1628	57	4	6757	4	PCDH15	10	56077049	Missense_Mutation	SNP	T	TCGA-2G-AAHN-01A-11D-A42Y-10	12476547	56077049	79457698	35	3775											
KIAA0913	23053	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	75558169	75558169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcacgcccatgcattgaaCcctaatgagatccagcgggc	10	7	9	15	2	1	2	1	2	0	1	2	3	2	2	4	1	3	1	4	1	2	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr10:75558169C>T	ENST00000605216.1	+	20	4336	c.4119C>T	c.(4117-4119)aaC>aaT	p.N1373N	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Silent_p.N1378N|ZSWIM8_ENST00000398706.2_Silent_p.N1378N|ZSWIM8_ENST00000603114.1_Silent_p.N1340N|ZSWIM8_ENST00000604524.1_Silent_p.N1373N	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1373							zinc ion binding (GO:0008270)										ATGCATTGAACCCTAATGAGA	0.607																																					p.N1378N													KIAA0913_ENST00000412131,NS,carcinoma,+2,3	KIAA0913_ENST00000412131	2	3	0			c.C4134T												45	46	46					10																	75558169		1982	4151	6133	SO:0001819	synonymous_variant	23053	exon20			ATTGAACCCTAAT	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.4119C>T	10.37:g.75558169C>T			88	0	0		64	0.16	10	NM_015037	32	0.19	6	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.436|4.436	0.080683|0.080683	0.08533|0.08533	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000412198	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|.	.|.	.|.	.|.	T|T	0.75095|0.75095	0.3803|0.3803	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73467|0.73467	-0.3973|-0.3973	4|4	.|.	.|.	.|.	-8.0132|-8.0132	19.266|19.266	0.93985|0.93985	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|I	1089|648	.|.	.|.	P|T	+|+	1|2	0|0	KIAA0913|KIAA0913	75228175|75228175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.034000|3.034000	0.49751|0.49751	2.572000|2.572000	0.86782|0.86782	0.563000|0.563000	0.77884|0.77884	CCC|ACC			0.607	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000468545.1		NM_001242487		T	75558169	C	T	75558169	2	4	53	1	0	0	0	0	0	0	0	1	8215	506	18	3		3	KIAA0913	10	75558169	Silent	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	19481120	75558169	59976578	36	3776											
MUC6	4588	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	1027502	1027502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtagctgaaggtggtgttaCccgtgcaggggatggctgtg	6	11	18	6	1	0	1	0	1	0	0	0	2	0	2	1	5	3	5	1	5	3	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr11:1027502C>T	ENST00000421673.2	-	17	2047	c.1997G>A	c.(1996-1998)gGt>gAt	p.G666D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	666					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)		GGTGGTGTTACCCGTGCAGGG	0.697																																					p.G666D													.	MUC6	408		0			c.G1997A												39	46	44					11																	1027502		2121	4205	6326	SO:0001583	missense	4588	exon17			GTGTTACCCGTGC	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.1997G>A	11.37:g.1027502C>T	ENSP00000406861:p.Gly666Asp		118	0.0084745763	1		66	0.2	13	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429545	0.43122	.	.	ENSG00000184956	ENST00000421673	D	0.90385	-2.66	4.02	4.02	0.46733	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.93625	0.7964	L	0.56199	1.76	0.44652	D	0.997631	D	0.89917	1.0	D	0.97110	1.0	D	0.93223	0.6610	9	0.41790	T	0.15	.	16.7076	0.85376	0.0:1.0:0.0:0.0	.	666	Q6W4X9	MUC6_HUMAN	D	666	ENSP00000406861:G666D	ENSP00000406861:G666D	G	-	2	0	MUC6	1017502	0.332000	0.24722	0.838000	0.33150	0.054000	0.15201	1.195000	0.32186	2.253000	0.74438	0.436000	0.28706	GGT			0.697	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		T	1027502	C	T	1027502	3	4	53	1	0	0	0	0	1	0	0	0	9996	507	18	3	5390	3	MUC6	11	1027502	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10		1027502	133979014	37	3777											
MUC2	4583	mdanderson.org	37	chr11	1092971	1092971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacggtgaccccaaccccaaCacccaccggcacacagaccc	12	2	6	21	2	0	2	0	1	0	1	0	2	0	2	7	2	3	1	7	2	3	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr11:1092971C>T	ENST00000441003.2	+	30	4817	c.4790C>T	c.(4789-4791)aCa>aTa	p.T1597I	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccaaccccaacacccaccggc	0.632																																					p.T1597I													MUC2_ENST00000441003,NS,carcinoma,0,1	MUC2_ENST00000441003	0	1	0			c.C4790T												47	82	70					11																	1092971		1782	3233	5015	SO:0001583	missense	4583	exon30			CCCCAACACCCAC	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.4790C>T	11.37:g.1092971C>T	ENSP00000415183:p.Thr1597Ile		50	0.02	1		33	0.09	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.395	-0.338980	0.05243	.	.	ENSG00000198788	ENST00000441003	T	0.14640	2.49	1.75	0.762	0.18454	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.41520	-0.9504	8	0.22109	T	0.4	.	4.3366	0.11089	0.0:0.6142:0.0:0.3858	.	1597	E7EUV1	.	I	1597	ENSP00000415183:T1597I	ENSP00000415183:T1597I	T	+	2	0	MUC2	1082971	0.029000	0.19370	0.001000	0.08648	0.134000	0.20937	1.107000	0.31110	0.104000	0.17725	0.121000	0.15741	ACA			0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1092971	C	T	1092971	3	4	53	1	0	0	0	0	1	0	0	0	9991	478	17	3	4908	3	MUC2	11	1092971	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	65469	1092971	133913545	38	3778											
KRTAP5-5	439915	bcgsc.ca	37	chr11	1651203	1651210	+	Frame_Shift_Del	DEL	TGTGGGGG	TGTGGGGG	-																															gtggctccggctgtggaggcTgtgggggctgtggctccggc																										TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	TGTGGGGG	TGTGGGGG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr11:1651203_1651210delTGTGGGGG	ENST00000399676.2	+	1	171_178	c.133_140delTGTGGGGG	c.(133-141)tgtgggggcfs	p.CGG45fs		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	45						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)		ctgtggaggctgtgggggctgtggctcc	0.702																																					p.45_47del													.	KRTAP5-5	86		0			c.133_140del																																									SO:0001589	frameshift_variant	439915	exon1			GGAGGCTGTGGGG	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.133_140delTGTGGGGG	11.37:g.1651203_1651210delTGTGGGGG	ENSP00000382584:p.Cys45fs		76	0.0131578947	1		38	0.11	4	NM_001001480	0		0	A8MWN2	Frame_Shift_Del	DEL	ENST00000399676.2	37	CCDS41592.1																																																																																					0.702	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127919.1				-	1651210	TGTGGGGG	-	1651203	7	5	53	1	0	1	0	1	0	0	0	0	8579	1580	55	0	135	0	KRTAP5-5	11	1651203	Frame_Shift_Del	DEL	TGTGGGGG	TCGA-2G-AAHN-01A-11D-A42Y-10	558232	1651203	133355313	39	3779											
CTSD	1509	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	1775040	1775040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcccgctcaccttgagcGtgtagtcctctggggacagc	6	10	12	13	2	2	1	1	1	1	0	3	2	3	2	3	2	3	2	3	2	1	3			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr11:1775040G>T	ENST00000236671.2	-	8	1196	c.1064C>A	c.(1063-1065)aCg>aAg	p.T355K	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R226S	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	355					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CACCTTGAGCGTGTAGTCCTC	0.662																																					p.T355K													.	.			0			c.C1064A												76	73	74					11																	1775040		2202	4299	6501	SO:0001583	missense	1509	exon8			TTGAGCGTGTAGT	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1064C>A	11.37:g.1775040G>T	ENSP00000236671:p.Thr355Lys		111	0	0		77	0.13	10	NM_001909	4897	0.05	237	Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.40|19.40	3.820900|3.820900	0.71028|0.71028	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000429746	.|T;T	.|0.58060	.|0.36;0.36	3.87|3.87	1.35|1.35	0.21983|0.21983	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.660679	.|0.15212	.|N	.|0.274408	T|T	0.56920|0.56920	0.2018|0.2018	L|L	0.41356|0.41356	1.27|1.27	0.26776|0.26776	N|N	0.969705|0.969705	.|D	.|0.71674	.|0.998	.|D	.|0.64237	.|0.923	T|T	0.48293|0.48293	-0.9048|-0.9048	5|10	.|0.87932	.|D	.|0	.|.	7.7234|7.7234	0.28746|0.28746	0.8373:0.0:0.1627:0.0|0.8373:0.0:0.1627:0.0	.|.	.|355	.|P07339	.|CATD_HUMAN	S|K	226|355;132	.|ENSP00000236671:T355K;ENSP00000402586:T132K	.|ENSP00000236671:T355K	R|T	-|-	1|2	0|0	RP11-295K3.1|CTSD	1731616|1731616	0.033000|0.033000	0.19621|0.19621	0.005000|0.005000	0.12908|0.12908	0.217000|0.217000	0.24651|0.24651	2.835000|2.835000	0.48175|0.48175	0.172000|0.172000	0.19760|0.19760	0.462000|0.462000	0.41574|0.41574	CGC|ACG			0.662	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000104272.5		NM_001909		T	1775040	G	T	1775040	3	4	53	1	0	0	0	0	1	0	0	0	4034	1145	40	1	182	1	CTSD	11	1775040	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	123837	1775040	133231476	40	3780											
DAK	26007	mdanderson.org	37	chr11	61109960	61109960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggaagctggtgtgcgccGgataaaggtaggtggtccct	7	8	18	8	3	0	0	0	0	0	0	1	2	1	2	2	7	2	2	2	7	4	2	rs200763152	byFrequency	TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr11:61109960G>T	ENST00000394900.3	+	8	912	c.683G>T	c.(682-684)cGg>cTg	p.R228L		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	228	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GGTGTGCGCCGGATAAAGGTA	0.592																																					p.R228L													.	.			0			c.G683T												109	115	113					11																	61109960		2203	4299	6502	SO:0001583	missense	26007	exon8			TGCGCCGGATAAA		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.683G>T	11.37:g.61109960G>T	ENSP00000378360:p.Arg228Leu		66	0	0		45	0.07	3	NM_015533	46	0	0	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178240	0.94846	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.33216	1.42;1.42	5.67	5.67	0.87782	Dak kinase (2);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	H	0.94771	3.58	0.80722	D	1	D;P	0.89917	1.0;0.763	D;P	0.79108	0.992;0.568	T	0.71388	-0.4608	10	0.29301	T	0.29	-20.2602	19.7606	0.96314	0.0:0.0:1.0:0.0	.	228;228	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	L	228;227	ENSP00000378360:R228L;ENSP00000432539:R227L	ENSP00000378360:R228L	R	+	2	0	DAK	60866536	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.914000	0.87478	2.673000	0.90976	0.563000	0.77884	CGG			0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394425.4		NM_015533		T	61109960	G	T	61109960	3	4	53	1	0	0	0	0	1	0	0	0	4230	1116	39	1	709	1	DAK	11	61109960	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	59334920	61109960	73896556	41	3781											
THYN1	29087	broad.mit.edu	37	chr11	134118345	134118345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctcagttaacttggttccTtttcctccaggctcaaaaca	10	14	5	12	0	2	0	2	0	1	0	6	0	5	0	3	2	2	3	3	2	3	5			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr11:134118345T>C	ENST00000341541.3	-	7	1126	c.665A>G	c.(664-666)aAg>aGg	p.K222R	THYN1_ENST00000392594.3_Missense_Mutation_p.K222R|THYN1_ENST00000352327.5_3'UTR|THYN1_ENST00000392595.2_Missense_Mutation_p.K222R|THYN1_ENST00000525677.1_5'Flank	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	222						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)		ACTTGGTTCCTTTTCCTCCAG	0.413																																					p.K222R													.	THYN1	21		0			c.A665G												128	134	132					11																	134118345		2201	4297	6498	SO:0001583	missense	29087	exon7			GGTTCCTTTTCCT	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.665A>G	11.37:g.134118345T>C	ENSP00000341657:p.Lys222Arg		324	0.0030864198	1		208	0.02	4	NM_014174	188	0	0	Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	ENST00000341541.3	37	CCDS8496.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472361	0.43942	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594	.	.	.	5.71	4.55	0.56014	PUA-like domain (1);	0.364727	0.34223	N	0.004143	T	0.62804	0.2458	M	0.77103	2.36	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.59418	-0.7458	9	0.40728	T	0.16	-24.9466	12.436	0.55600	0.0:0.0:0.1405:0.8595	.	222	Q9P016	THYN1_HUMAN	R	222	.	ENSP00000341657:K222R	K	-	2	0	THYN1	133623555	1.000000	0.71417	0.903000	0.35520	0.636000	0.38137	3.819000	0.55686	0.949000	0.37715	0.523000	0.50628	AAG			0.413	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393599.1		NM_014174		C	134118345	T	C	134118345	3	2	53	1	0	0	0	0	1	0	0	0	15909	1609	56	4	16	4	THYN1	11	134118345	Missense_Mutation	SNP	T	TCGA-2G-AAHN-01A-11D-A42Y-10	73008385	134118345	888171	42	3782											
BIN2	51411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	51685422	51685422	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaagttcttcagggttctGattgtggatgttttcatttt	8	19	9	5	0	4	1	2	1	2	0	4	2	4	2	0	2	0	3	0	2	1	8			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr12:51685422G>A	ENST00000267012.4	-	10	1529	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	BIN2_ENST00000604560.1_Nonsense_Mutation_p.Q463*|BIN2_ENST00000452142.2_Nonsense_Mutation_p.Q458*|BIN2_ENST00000544402.1_Nonsense_Mutation_p.Q464*	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	490					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						TCAGGGTTCTGATTGTGGATG	0.403																																					p.Q490X													.	.			0			c.C1468T												37	38	38					12																	51685422		2199	4291	6490	SO:0001587	stop_gained	51411	exon10			GGTTCTGATTGTG	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.1468C>T	12.37:g.51685422G>A	ENSP00000267012:p.Gln490*		239	0	0		199	0.1	20	NM_016293	164	0.03	5	Q86VV0|Q9NWK4|Q9UKN4	Nonsense_Mutation	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075812	0.55646	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	.	.	.	4.09	1.1	0.20463	.	4.676830	0.00397	N	0.000042	.	.	.	.	.	.	0.48135	A	0.999595	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	7.0E-4	5.6898	0.17823	0.1124:0.388:0.4996:0.0	.	.	.	.	X	458;490;464	.	ENSP00000267012:Q490X	Q	-	1	0	BIN2	49971689	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	0.885000	0.28227	0.245000	0.21373	0.455000	0.32223	CAG			0.403	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000469800.1				A	51685422	G	A	51685422	4	1	53	1	0	0	0	0	0	1	0	0	1433	1299	45	3	245	3	BIN2	12	51685422	Nonsense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		51685422	82166473	43	3783											
DHRS2	10202	broad.mit.edu	37	chr14	24108495	24108495	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccaagctgcagggggAggggctgagtgtggcgggca	7	5	21	8	1	0	1	0	1	0	0	0	2	0	2	1	7	2	4	1	7	1	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr14:24108495A>G	ENST00000250383.6	+	3	724	c.248A>G	c.(247-249)gAg>gGg	p.E83G	DHRS2_ENST00000344777.7_Missense_Mutation_p.E83G|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	83					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGCAGGGGGAGGGGCTGAGT	0.687																																					p.E83G													.	DHRS2	78		0			c.A248G												35	39	37					14																	24108495		2202	4299	6501	SO:0001583	missense	10202	exon3			AGGGGGAGGGGCT		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.248A>G	14.37:g.24108495A>G	ENSP00000250383:p.Glu83Gly		122	0.0081967213	1		115	0.04	5	NM_182908	0		0	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.407473	0.42715	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.48836	0.8;0.8;0.8	4.95	4.95	0.65309	NAD(P)-binding domain (1);	0.323573	0.33217	N	0.005157	T	0.54367	0.1854	N	0.26092	0.79	0.53688	D	0.999972	B;D;D;P	0.89917	0.208;0.982;1.0;0.51	B;D;D;B	0.91635	0.262;0.93;0.999;0.098	T	0.56032	-0.8046	10	0.49607	T	0.09	.	12.5873	0.56424	1.0:0.0:0.0:0.0	.	61;83;83;61	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	G	83	ENSP00000401213:E83G;ENSP00000250383:E83G;ENSP00000344674:E83G	ENSP00000250383:E83G	E	+	2	0	DHRS2	23178335	1.000000	0.71417	0.993000	0.49108	0.011000	0.07611	6.124000	0.71620	2.081000	0.62600	0.482000	0.46254	GAG			0.687	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000071842.2		NM_182908		G	24108495	A	G	24108495	3	3	53	1	0	0	0	0	1	0	0	0	4495	304	11	4	254	4	DHRS2	14	24108495	Missense_Mutation	SNP	A	TCGA-2G-AAHN-01A-11D-A42Y-10		24108495	83241045	44	3784											
SPATA5L1	79029	mdanderson.org	37	chr15	45694836	45694836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcggcgggacggagcggacgGctttgtgcagctggacccgc	5	6	18	12	6	0	0	0	0	0	0	1	4	0	4	1	6	3	3	1	6	0	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr15:45694836G>A	ENST00000305560.6	+	1	308	c.209G>A	c.(208-210)gGc>gAc	p.G70D	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.G70D|GATM_ENST00000458245.5_5'Flank	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	70						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)		GGAGCGGACGGCTTTGTGCAG	0.726																																					p.G70D													.	.			0			c.G209A												4	6	5					15																	45694836		2041	4067	6108	SO:0001583	missense	79029	exon1			CGGACGGCTTTGT	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.209G>A	15.37:g.45694836G>A	ENSP00000305494:p.Gly70Asp		24	0	0		17	0.12	2	NM_024063	8	0	0	C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899975	0.92035	.	.	ENSG00000171763	ENST00000305560	D	0.94457	-3.43	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	M	0.71581	2.175	0.50813	D	0.999893	D	0.59767	0.986	D	0.63703	0.917	D	0.94612	0.7805	10	0.21540	T	0.41	-19.7891	16.7556	0.85498	0.0:0.0:1.0:0.0	.	70	Q9BVQ7	SPA5L_HUMAN	D	70	ENSP00000305494:G70D	ENSP00000305494:G70D	G	+	2	0	SPATA5L1	43482128	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.910000	0.75741	2.539000	0.85634	0.557000	0.71058	GGC			0.726	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000254218.1		NM_024063		A	45694836	G	A	45694836	3	1	53	1	0	0	0	0	1	0	0	0	15035	1203	42	2	211	2	SPATA5L1	15	45694836	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		45694836	56836556	45	3785											
SRRM2	23524	ucsc.edu	37	chr16	2817298	2817298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccaacagcagtgaacctgGctgactctcgaacgccagct	10	8	9	14	2	1	2	0	2	1	0	3	3	2	2	3	1	5	3	3	1	3	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr16:2817298G>T	ENST00000301740.8	+	11	7318	c.6769G>T	c.(6769-6771)Gct>Tct	p.A2257S	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2257	Ala-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						AGTGAACCTGGCTGACTCTCG	0.632																																					p.A2257S													.	SRRM2	263		0			c.G6769T												67	70	69					16																	2817298		2198	4300	6498	SO:0001583	missense	23524	exon11			AACCTGGCTGACT	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.6769G>T	16.37:g.2817298G>T	ENSP00000301740:p.Ala2257Ser		59	0	0		50	0.1	5	NM_016333	352	0.04	13	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	9.588	1.125326	0.20959	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.80033	-1.33	5.82	4.84	0.62591	.	0.089887	0.48767	D	0.000165	T	0.71151	0.3306	L	0.34521	1.04	0.30120	N	0.805738	P	0.40970	0.734	B	0.37731	0.257	T	0.71069	-0.4699	10	0.44086	T	0.13	-6.9946	12.7961	0.57560	0.0:0.1642:0.8358:0.0	.	2257	Q9UQ35	SRRM2_HUMAN	S	2257;1509	ENSP00000301740:A2257S	ENSP00000301740:A2257S	A	+	1	0	SRRM2	2757299	1.000000	0.71417	0.976000	0.42696	0.402000	0.30811	1.924000	0.40065	1.423000	0.47198	0.655000	0.94253	GCT			0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436411.1				T	2817298	G	T	2817298	3	4	53	1	0	0	0	0	1	0	0	0	15192	1203	42	2	6807	2	SRRM2	16	2817298	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		2817298	87537455	46	3786											
POLR3E	55718	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	22326410	22326410	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttccccttcccaccgcagGtgcggttctcccggccggag	3	9	11	18	4	2	0	0	0	2	0	5	1	4	1	6	4	1	2	6	4	0	3			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr16:22326410G>A	ENST00000299853.5	+	9	690	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	POLR3E_ENST00000418581.2_Splice_Site_p.V139M|POLR3E_ENST00000564209.1_Splice_Site_p.V175M|POLR3E_ENST00000359210.4_Splice_Site_p.V175M	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	175					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCCACCGCAGGTGCGGTTCTC	0.642																																					p.V175M													.	.			0			c.G523A												44	40	41					16																	22326410		2197	4300	6497	SO:0001630	splice_region_variant	55718	exon9			CCGCAGGTGCGGT	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.523-1G>A	16.37:g.22326410G>A			115	0	0		101	0.07	7	NM_001258033	15	0.53	8	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895135	0.91962	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.55760	0.5;0.5;0.5	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.85859	2.78	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;0.999;0.997;1.0;0.998	T	0.79042	-0.1965	9	.	.	.	-24.2847	19.3388	0.94332	0.0:0.0:1.0:0.0	.	119;139;175;175;175;175	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	M	175;175;139	ENSP00000299853:V175M;ENSP00000352140:V175M;ENSP00000399254:V139M	.	V	+	1	0	POLR3E	22233911	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.476000	0.97823	2.553000	0.86117	0.655000	0.94253	GTG			0.642	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211590.1		NM_018119	Missense_Mutation	A	22326410	G	A	22326410	5	1	53	1	0	0	0	0	0	0	1	0	12249	1275	44	3	553	3	POLR3E	16	22326410	Splice_Site	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	19509112	22326410	68028343	47	3787											
ZNF778	197320	hgsc.bcm.edu	37	chr16	89294051	89294051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagaagccatacacgtgtaAggactgcgggaaagccttct	12	7	12	10	3	1	1	0	0	1	1	1	4	1	3	2	2	4	1	2	2	4	3			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr16:89294051A>G	ENST00000433976.2	+	6	1603	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.K382R	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TACACGTGTAAGGACTGCGGG	0.502																																					p.K452R													.	.			0			c.A1355G												105	110	108					16																	89294051		2179	4292	6471	SO:0001583	missense	197320	exon7			CGTGTAAGGACTG	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1271A>G	16.37:g.89294051A>G	ENSP00000405289:p.Lys424Arg		128	0	0		84	0.05	4	NM_001201407	1	0	0	Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626438	0.46840	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.03831	3.79;3.79	1.13	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	L	0.28192	0.835	0.09310	N	1	D;D	0.56521	0.97;0.976	P;P	0.59643	0.782;0.861	T	0.35276	-0.9795	9	0.48119	T	0.1	.	4.0014	0.09582	0.6176:0.3824:0.0:0.0	.	382;424	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	R	424;382	ENSP00000405289:K424R;ENSP00000305203:K382R	ENSP00000305203:K382R	K	+	2	0	ZNF778	87821552	0.000000	0.05858	0.047000	0.18901	0.353000	0.29299	-3.056000	0.00625	0.769000	0.33313	0.456000	0.33151	AAG			0.502	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430383.1		NM_182531		G	89294051	A	G	89294051	3	3	53	1	0	0	0	0	1	0	0	0	18174	72	3	4	1289	4	ZNF778	16	89294051	Missense_Mutation	SNP	A	TCGA-2G-AAHN-01A-11D-A42Y-10	66967641	89294051	1060702	48	3788											
ZNF276	92822	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	89789049	89789049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagcgagcatggagaggCcatccgcagaggagcgcgtg	9	4	18	10	4	0	2	0	0	0	2	1	6	1	4	2	4	3	2	2	4	0	0	rs202152544		TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr16:89789049C>A	ENST00000443381.2	+	2	413	c.316C>A	c.(316-318)Cca>Aca	p.P106T	VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Missense_Mutation_p.P31T|ZNF276_ENST00000289816.5_Missense_Mutation_p.P31T|ZNF276_ENST00000446326.2_5'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	106	ZAD.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CATGGAGAGGCCATCCGCAGA	0.647																																					p.P106T													.	ZNF276	70		0			c.C316A												66	66	66					16																	89789049		2198	4300	6498	SO:0001583	missense	92822	exon2			GAGAGGCCATCCG	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.316C>A	16.37:g.89789049C>A	ENSP00000415836:p.Pro106Thr		76	0.0131578947	1		49	0.2	10	NM_001113525	9	0	0	Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.775281	0.00640	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.05513	3.43;3.49	5.27	-0.156	0.13391	Zinc finger, AD-type (1);	0.599501	0.17840	N	0.160259	T	0.02929	0.0087	N	0.14661	0.345	0.20307	N	0.999918	B;B	0.18461	0.028;0.003	B;B	0.15052	0.012;0.007	T	0.41893	-0.9483	10	0.28530	T	0.3	-0.3767	3.0589	0.06193	0.1237:0.5489:0.1198:0.2076	.	106;31	Q8N554;Q8N554-2	ZN276_HUMAN;.	T	31;106	ENSP00000289816:P31T;ENSP00000415836:P106T	ENSP00000289816:P31T	P	+	1	0	ZNF276	88316550	0.019000	0.18553	0.000000	0.03702	0.002000	0.02628	0.692000	0.25482	-0.241000	0.09681	-0.136000	0.14681	CCA			0.647	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422517.1		NM_152287		A	89789049	C	A	89789049	3	1	53	1	0	0	0	0	1	0	0	0	17834	739	26	2	322	2	ZNF276	16	89789049	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	494998	89789049	565704	49	3789											
KIF1C	10749	hgsc.bcm.edu;broad.mit.edu	37	chr17	4925727	4925727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatgcgggagctgtgtcGcacctatggcaagccagacg	10	6	14	11	3	0	2	0	0	0	2	1	3	0	3	2	2	3	3	2	2	3	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr17:4925727G>T	ENST00000320785.5	+	22	2708	c.2351G>T	c.(2350-2352)cGc>cTc	p.R784L	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	784					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						GAGCTGTGTCGCACCTATGGC	0.672																																					p.R784L	Melanoma(96;1023 1447 10250 19259 33730)												KIF1C,NS,carcinoma,0,1	KIF1C	0	1	0			c.G2351T												25	25	25					17																	4925727		2200	4291	6491	SO:0001583	missense	10749	exon22			TGTGTCGCACCTA	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.2351G>T	17.37:g.4925727G>T	ENSP00000320821:p.Arg784Leu		87	0	0		69	0.04	3	NM_006612	462	0	0	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889845	0.72524	.	.	ENSG00000129250	ENST00000320785	T	0.74106	-0.81	4.67	4.67	0.58626	.	.	.	.	.	T	0.63082	0.2481	L	0.39898	1.24	0.42364	D	0.992423	P	0.39737	0.685	B	0.30105	0.111	T	0.68988	-0.5264	9	0.49607	T	0.09	.	15.1017	0.72284	0.0:0.0:1.0:0.0	.	784	O43896	KIF1C_HUMAN	L	784	ENSP00000320821:R784L	ENSP00000320821:R784L	R	+	2	0	KIF1C	4866451	0.002000	0.14202	1.000000	0.80357	0.998000	0.95712	1.079000	0.30766	2.436000	0.82500	0.655000	0.94253	CGC			0.672	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216916.1				T	4925727	G	T	4925727	3	4	53	1	0	0	0	0	1	0	0	0	8300	1087	38	1	2429	1	KIF1C	17	4925727	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		4925727	76269483	50	3790											
LLGL1	3996	mdanderson.org	37	chr17	18140236	18140236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atacagcccagatggtggtgGctggcactgcaggccaggta	9	7	15	10	0	0	1	0	0	0	1	0	1	0	1	2	6	3	4	2	6	2	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr17:18140236G>A	ENST00000316843.4	+	13	1690	c.1594G>A	c.(1594-1596)Gct>Act	p.A532T		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	532					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GATGGTGGTGGCTGGCACTGC	0.607																																					p.A532T													.	.			0			c.G1594A												50	39	42					17																	18140236		2203	4300	6503	SO:0001583	missense	3996	exon13			GTGGTGGCTGGCA		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1594G>A	17.37:g.18140236G>A	ENSP00000321537:p.Ala532Thr		60	0	0		50	0.06	3	NM_004140	50	0	0	A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980557	0.92982	.	.	ENSG00000131899	ENST00000316843	T	0.32272	1.46	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.64179	-0.6468	10	0.52906	T	0.07	-19.0859	19.6222	0.95663	0.0:0.0:1.0:0.0	.	532	Q15334	L2GL1_HUMAN	T	532	ENSP00000321537:A532T	ENSP00000321537:A532T	A	+	1	0	LLGL1	18080961	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.404000	0.59735	2.733000	0.93635	0.591000	0.81541	GCT			0.607	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132067.3				A	18140236	G	A	18140236	3	1	53	1	0	0	0	0	1	0	0	0	8848	1203	42	2	1644	2	LLGL1	17	18140236	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	13214509	18140236	63054974	51	3791											
DNAH17	8632	mdanderson.org	37	chr17	76457693	76457693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctttgctgaccttctcgGcctcgatgccgaccacctgg	4	12	9	16	3	2	1	0	1	2	0	5	3	2	1	5	2	2	1	5	2	0	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr17:76457693G>T	ENST00000585328.1	-	58	9381	c.9257C>A	c.(9256-9258)gCc>gAc	p.A3086D	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A3077D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3077	Stalk. {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)			GACCTTCTCGGCCTCGATGCC	0.537																																					p.A3091D													.	.			0			c.C9272A												111	75	87					17																	76457693		2203	4300	6503	SO:0001583	missense	8632	exon58			TTCTCGGCCTCGA	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.9257C>A	17.37:g.76457693G>T	ENSP00000465516:p.Ala3086Asp		72	0	0		42	0.07	3	NM_173628	1	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	G	11.47	1.649287	0.29336	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.76578	-1.03	4.35	4.35	0.52113	.	0.255042	0.27311	N	0.019955	T	0.71668	0.3367	L	0.35854	1.095	0.25541	N	0.987176	B	0.13594	0.008	B	0.22601	0.04	T	0.67217	-0.5726	10	0.72032	D	0.01	.	16.4756	0.84131	0.0:0.0:1.0:0.0	.	3086	E7EUM8	.	D	3086;3077	ENSP00000374490:A3077D	ENSP00000300671:A3086D	A	-	2	0	DNAH17	73969288	1.000000	0.71417	0.789000	0.31954	0.313000	0.28021	6.199000	0.72112	1.960000	0.56953	0.563000	0.77884	GCC			0.537	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000318962.2		NM_173628		T	76457693	G	T	76457693	3	4	53	1	0	0	0	0	1	0	0	0	4606	1203	42	2	4212	2	DNAH17	17	76457693	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	58317457	76457693	4737517	52	3792											
WDR7	23335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	54424172	54424172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcctgaatatcggtccaGcaaatcaaagccattgaccc	13	9	7	12	1	1	3	1	3	0	0	4	3	3	3	4	1	2	1	4	1	4	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr18:54424172G>A	ENST00000254442.3	+	15	2559	c.2348G>A	c.(2347-2349)aGc>aAc	p.S783N	WDR7_ENST00000357574.3_Missense_Mutation_p.S783N|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	783					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)		TATCGGTCCAGCAAATCAAAG	0.423																																					p.S783N													.	.			0			c.G2348A												97	91	93					18																	54424172		2203	4300	6503	SO:0001583	missense	23335	exon15			GGTCCAGCAAATC	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.2348G>A	18.37:g.54424172G>A	ENSP00000254442:p.Ser783Asn		167	0	0		102	0.15	15	NM_052834	0		0	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	8.094	0.775215	0.16051	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.66638	-0.2;-0.22	5.78	5.78	0.91487	.	0.066526	0.64402	D	0.000005	T	0.48295	0.1492	N	0.08118	0	0.36787	D	0.884649	B;B	0.19200	0.005;0.034	B;B	0.16289	0.009;0.015	T	0.49283	-0.8956	10	0.13853	T	0.58	.	19.5941	0.95527	0.0:0.0:1.0:0.0	.	783;783	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	N	783;783;108;783	ENSP00000254442:S783N;ENSP00000350187:S783N	ENSP00000254442:S783N	S	+	2	0	WDR7	52575170	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.769000	0.62300	2.724000	0.93272	0.655000	0.94253	AGC			0.423	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256062.1				A	54424172	G	A	54424172	3	1	53	1	0	0	0	0	1	0	0	0	17344	971	34	2	2402	2	WDR7	18	54424172	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		54424172	23653076	53	3793											
MAG	4099	mdanderson.org	37	chr19	35786622	35786622	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacttcccggatgagctgcgGcccgctgtggtgcatggtgt	4	10	16	11	3	0	1	0	1	0	0	1	3	1	2	2	4	3	3	2	4	0	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr19:35786622G>T	ENST00000392213.3	+	4	312	c.153G>T	c.(151-153)cgG>cgT	p.R51R	MAG_ENST00000537831.2_Silent_p.R26R|MAG_ENST00000597035.1_Silent_p.R51R|MAG_ENST00000361922.4_Silent_p.R51R	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	51	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATGAGCTGCGGCCCGCTGTGG	0.627																																					p.R51R													MAG_ENST00000392213,caecum,carcinoma,+1,4	MAG_ENST00000392213	1	4	0			c.G153T												76	79	78					19																	35786622		2203	4300	6503	SO:0001819	synonymous_variant	4099	exon4			GCTGCGGCCCGCT	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.153G>T	19.37:g.35786622G>T			59	0	0		37	0.08	3	NM_080600	0		0	B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	CCDS12455.1																																																																																					0.627	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000466071.1		NM_080600		T	35786622	G	T	35786622	2	4	53	1	0	0	0	0	0	0	0	1	9178	1190	42	2		2	MAG	19	35786622	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		35786622	23342361	54	3794											
MLL4	9757	broad.mit.edu;bcgsc.ca	37	chr19	36213928	36213928	+	Frame_Shift_Del	DEL	C	C	-																															gcgtccgagactgagagtgtCccgtcacggtcccggcgggg																										TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr19:36213928delC	ENST00000222270.7	+	6	2754	c.2754delC	c.(2752-2754)gtcfs	p.V918fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.V918fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	918					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)										CTGAGAGTGTCCCGTCACGGT	0.642																																					p.V918fs													.	MLL4	229		0			c.2754delC												23	29	27					19																	36213928		2026	4162	6188	SO:0001589	frameshift_variant	0	exon6			GAGTGTCCCGTCA	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.2754delC	19.37:g.36213928delC	ENSP00000222270:p.Val918fs		90	0	0		68	0.12	8	NM_014727	11	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	CCDS46055.1																																																																																					0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_014727		-	36213928	C	-	36213928	7	5	53	1	0	1	0	1	0	0	0	0	9639	842	30	0	2776	0	MLL4	19	36213928	Frame_Shift_Del	DEL	C	TCGA-2G-AAHN-01A-11D-A42Y-10	427306	36213928	22915055	55	3795											
DPF1	8193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38709684	38709684	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaccctccttcttcaGgggtgcttcacagtctgggg	5	10	13	13	0	4	0	2	0	2	0	5	1	5	0	3	5	1	1	3	5	0	3			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr19:38709684G>A	ENST00000420980.2	-	4	420	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	DPF1_ENST00000412732.1_Silent_p.L50L|DPF1_ENST00000355526.4_Silent_p.L132L|DPF1_ENST00000416611.1_Silent_p.L106L|DPF1_ENST00000456296.1_Silent_p.L106L|DPF1_ENST00000414789.1_Silent_p.L50L	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	132					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTTCTTCAGGGGTGCTTCA	0.612																																					p.L132L													.	.			0			c.C394T												79	86	84					19																	38709684		2203	4300	6503	SO:0001819	synonymous_variant	8193	exon4			TCTTCAGGGGTGC	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"Zinc fingers, PHD-type"	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.394C>T	19.37:g.38709684G>A			68	0	0		67	0.12	8	NM_001135155	43	0.19	8	B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114586	0.20795	.	.	ENSG00000011332	ENST00000355526	.	.	.	4.28	2.14	0.27477	.	.	.	.	.	T	0.48447	0.1500	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20505	-1.0273	5	0.20046	T	0.44	-10.2041	6.711	0.23276	0.1133:0.0:0.7298:0.157	.	.	.	.	L	124	.	ENSP00000347716:P124L	P	-	2	0	DPF1	43401524	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.367000	0.34204	0.437000	0.26423	0.467000	0.42956	CCT			0.612	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000347721.1				A	38709684	G	A	38709684	2	1	53	1	0	0	0	0	0	0	0	1	4721	991	35	3		3	DPF1	19	38709684	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	2495756	38709684	20419299	56	3796											
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	38976839	38976839	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagctcgtgtccaccctGctggtaatggcttcctcctg	5	12	9	15	1	1	0	1	0	0	0	5	0	4	0	4	2	2	4	4	2	2	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr19:38976839G>T	ENST00000359596.3	+	34	5544	c.5544G>T	c.(5542-5544)ctG>ctT	p.L1848L	RYR1_ENST00000355481.4_Silent_p.L1848L|RYR1_ENST00000360985.3_Silent_p.L1848L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1848	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)	TGTCCACCCTGCTGGTAATGG	0.582																																					p.L1848L													.	.			0			c.G5544T												165	158	161					19																	38976839		2123	4222	6345	SO:0001819	synonymous_variant	6261	exon34			CACCCTGCTGGTA	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.5544G>T	19.37:g.38976839G>T			153	0	0		124	0.04	5	NM_001042723	0		0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																					0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462137.1				T	38976839	G	T	38976839	2	4	53	1	0	0	0	0	0	0	0	1	13791	1306	46	2		2	RYR1	19	38976839	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	267155	38976839	20152144	57	3797											
EGLN2	112398	mdanderson.org	37	chr19	41306775	41306775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaaggcgctgcagcgctgGtcaccaaggggtgccagcga	8	5	17	11	3	1	1	1	1	0	0	1	2	1	1	2	4	4	3	2	4	2	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr19:41306775G>T	ENST00000593726.1	+	1	1326	c.298G>T	c.(298-300)Gtc>Ttc	p.V100F	EGLN2_ENST00000406058.2_Missense_Mutation_p.V100F|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000303961.4_Missense_Mutation_p.V100F|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000594140.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	100	Bipartite nuclear localization signal.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|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)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	TGCAGCGCTGGTCACCAAGGG	0.672																																					p.V100F													.	.			0			c.G298T												14	16	15					19																	41306775		2199	4293	6492	SO:0001583	missense	112398	exon2			GCGCTGGTCACCA	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.298G>T	19.37:g.41306775G>T	ENSP00000469686:p.Val100Phe		64	0	0		44	0.07	3	NM_080732	157	0	0	A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680699	0.47886	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.26810	1.71;1.71	4.04	3.0	0.34707	.	0.291939	0.25414	N	0.030856	T	0.14743	0.0356	N	0.14661	0.345	0.40621	D	0.981762	P	0.44877	0.845	B	0.39379	0.298	T	0.07947	-1.0746	10	0.59425	D	0.04	-23.6118	11.2985	0.49292	0.098:0.0:0.902:0.0	.	100	Q96KS0	EGLN2_HUMAN	F	100	ENSP00000307080:V100F;ENSP00000385253:V100F	ENSP00000307080:V100F	V	+	1	0	EGLN2	45998615	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.251000	0.43187	2.250000	0.74265	0.491000	0.48974	GTC			0.672	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463218.1				T	41306775	G	T	41306775	3	4	53	1	0	0	0	0	1	0	0	0	4974	1261	44	3	300	3	EGLN2	19	41306775	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	2329936	41306775	17822208	58	3798											
PLUNC	51297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	31827688	31827688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgtctctatgtcaccatcCctctcggcataaagctccaa	10	10	5	16	2	3	0	1	0	2	0	7	0	5	0	4	1	1	2	4	1	4	2			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr20:31827688C>G	ENST00000354297.4	+	4	471	c.400C>G	c.(400-402)Cct>Gct	p.P134A	BPIFA1_ENST00000375422.2_Missense_Mutation_p.P134A|BPIFA1_ENST00000375413.4_Missense_Mutation_p.P134A	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	134					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TGTCACCATCCCTCTCGGCAT	0.552																																					p.P134A													.	.			0			c.C400G												145	134	138					20																	31827688		2203	4300	6503	SO:0001583	missense	51297	exon4			ACCATCCCTCTCG	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.400C>G	20.37:g.31827688C>G	ENSP00000346251:p.Pro134Ala		125	0	0		92	0.12	11	NM_016583	0		0	A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036194	0.75617	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.04119	3.7;3.7;3.7	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000007	T	0.23133	0.0559	M	0.82823	2.61	0.35420	D	0.793143	D	0.89917	1.0	D	0.87578	0.998	T	0.06356	-1.0831	10	0.45353	T	0.12	-23.2166	14.6416	0.68729	0.0:1.0:0.0:0.0	.	134	Q9NP55	BPIA1_HUMAN	A	134;134;134;120	ENSP00000364571:P134A;ENSP00000346251:P134A;ENSP00000364562:P134A	ENSP00000346251:P134A	P	+	1	0	BPIFA1	31291349	0.999000	0.42202	0.995000	0.50966	0.859000	0.49053	3.291000	0.51764	2.837000	0.97791	0.655000	0.94253	CCT			0.552	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078667.2		NM_130852		G	31827688	C	G	31827688	3	3	53	1	0	0	0	0	1	0	0	0	12132	623	22	5	410	5	PLUNC	20	31827688	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10		31827688	31197832	59	3799											
TGM2	7052	ucsc.edu;mdanderson.org	37	chr20	36775125	36775125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgcagctcacctgtgcAggccacggcggcgaagaccc	8	4	14	15	4	1	1	1	0	0	1	1	2	1	1	3	3	4	3	3	3	1	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr20:36775125A>G	ENST00000361475.2	-	6	1026	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R	TGM2_ENST00000536701.1_Missense_Mutation_p.C204R|TGM2_ENST00000536724.1_Missense_Mutation_p.C225R	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	285					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TCACCTGTGCAGGCCACGGCG	0.652																																					p.C285R													.	TGM2	88		0			c.T853C												29	26	27					20																	36775125		2202	4297	6499	SO:0001583	missense	7052	exon6			CTGTGCAGGCCAC	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.853T>C	20.37:g.36775125A>G	ENSP00000355330:p.Cys285Arg		78	0	0		45	0.09	4	NM_198951	27	0	0	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250152	0.80024	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	D;D;D	0.95918	-3.85;-3.85;-3.85	5.67	5.67	0.87782	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.88105	2.93	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	0.999;0.999;1.0;0.998;0.999;0.999	D	0.98832	1.0751	10	0.72032	D	0.01	-4.4116	15.1024	0.72292	1.0:0.0:0.0:0.0	.	225;204;285;285;225;285	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	R	285;204;225	ENSP00000355330:C285R;ENSP00000444701:C204R;ENSP00000437479:C225R	ENSP00000355330:C285R	C	-	1	0	TGM2	36208539	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.257000	0.78362	2.155000	0.67459	0.460000	0.39030	TGC			0.652	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079151.2		NM_198951		G	36775125	A	G	36775125	3	3	53	1	0	0	0	0	1	0	0	0	15853	188	7	4	1274	4	TGM2	20	36775125	Missense_Mutation	SNP	A	TCGA-2G-AAHN-01A-11D-A42Y-10	4947437	36775125	26250395	60	3800											
PTPN1	5770	bcgsc.ca;mdanderson.org	37	chr20	49177939	49177939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgacttcccatgtagagtgGccaagcttcctaagaacaaa	13	9	9	10	0	0	3	0	1	0	2	2	3	2	3	3	1	2	2	3	1	5	4			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr20:49177939G>A	ENST00000371621.3	+	2	277	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	PTPN1_ENST00000541713.1_Intron|Y_RNA_ENST00000364631.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	35	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	ATGTAGAGTGGCCAAGCTTCC	0.468																																					p.A35T													.	PTPN1	36		0			c.G103A												130	106	114					20																	49177939		2203	4300	6503	SO:0001583	missense	5770	exon2			AGAGTGGCCAAGC		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.103G>A	20.37:g.49177939G>A	ENSP00000360683:p.Ala35Thr		156	0	0		99	0.05	5	NM_002827	30	0	0	Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548056	0.96488	.	.	ENSG00000196396	ENST00000371621	T	0.03663	3.85	5.02	5.02	0.67125	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000014	T	0.25269	0.0614	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.08391	-1.0724	10	0.87932	D	0	.	17.2684	0.87093	0.0:0.0:1.0:0.0	.	35	P18031	PTN1_HUMAN	T	35	ENSP00000360683:A35T	ENSP00000360683:A35T	A	+	1	0	PTPN1	48611346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.128000	0.94424	2.602000	0.87976	0.650000	0.86243	GCC			0.468	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079694.2				A	49177939	G	A	49177939	3	1	53	1	0	0	0	0	1	0	0	0	12800	1203	42	2	109	2	PTPN1	20	49177939	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	12402814	49177939	13847581	61	3801											
FAM65C	140876	mdanderson.org	37	chr20	49226132	49226132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcactcgtgcaggctgCggcccagctcctgcaggctc	4	6	14	17	4	0	0	0	0	0	0	3	0	1	0	2	4	4	6	2	4	0	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr20:49226132C>T	ENST00000327979.2	-	7	953	c.542G>A	c.(541-543)cGc>cAc	p.R181H	FAM65C_ENST00000535356.1_Missense_Mutation_p.R185H|FAM65C_ENST00000045083.2_Missense_Mutation_p.R181H			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	181										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGCAGGCTGCGGCCCAGCTC	0.756																																					p.R181H													.	.			0			c.G542A												3	3	3					20																	49226132		1677	3389	5066	SO:0001583	missense	140876	exon7			AGGCTGCGGCCCA	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.542G>A	20.37:g.49226132C>T	ENSP00000332663:p.Arg181His		19	0	0		16	0.13	2	NM_080829	1	0	0	Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753467	0.89753	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02369	4.32;4.32;4.32	5.2	4.26	0.50523	.	0.134378	0.53938	D	0.000053	T	0.10594	0.0259	M	0.72118	2.19	0.46654	D	0.999142	D;D	0.89917	0.999;1.0	D;D	0.72625	0.939;0.978	T	0.00192	-1.1935	10	0.72032	D	0.01	-30.6442	5.998	0.19505	0.0:0.7447:0.0:0.2553	.	185;181	F5H0X2;Q96MK2	.;FA65C_HUMAN	H	181;181;185	ENSP00000332663:R181H;ENSP00000045083:R181H;ENSP00000439802:R185H	ENSP00000045083:R181H	R	-	2	0	FAM65C	48659539	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	2.032000	0.41127	2.423000	0.82170	0.555000	0.69702	CGC			0.756	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257962.1				T	49226132	C	T	49226132	3	4	53	1	0	0	0	0	1	0	0	0	5614	768	27	1	2362	1	FAM65C	20	49226132	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	48193	49226132	13799388	62	3802											
KCNQ2	3785	mdanderson.org	37	chr20	62038606	62038606	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggctgtcttccgggctgtgGtacggcggcgccggctccgg	1	8	18	14	7	1	0	0	0	1	0	3	0	3	0	3	7	1	4	3	7	1	2	rs574774458		TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr20:62038606G>T	ENST00000359125.2	-	17	2184	c.2010C>A	c.(2008-2010)taC>taA	p.Y670*	KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.Y652*|KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.Y642*|KCNQ2_ENST00000354587.3_Nonsense_Mutation_p.Y678*|KCNQ2_ENST00000344462.4_Nonsense_Mutation_p.Y639*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.Y678*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.Y670*	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	670					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCGGGCTGTGGTACGGCGGCG	0.637																																					p.Y670X													.	.			0			c.C2010A												15	19	17					20																	62038606		2187	4280	6467	SO:0001587	stop_gained	3785	exon17			GCTGTGGTACGGC	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2010C>A	20.37:g.62038606G>T	ENSP00000352035:p.Tyr670*		17	0	0		23	0.13	3	NM_172107	1	0	0	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Nonsense_Mutation	SNP	ENST00000359125.2	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	35	5.582567	0.96578	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	.	.	.	5.06	4.11	0.48088	.	0.218263	0.40385	N	0.001104	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4843	10.3714	0.44055	0.159:0.0:0.841:0.0	.	.	.	.	X	652;670;640;678;670;639;642;666;678	.	ENSP00000339611:Y666X	Y	-	3	2	KCNQ2	61509050	1.000000	0.71417	0.998000	0.56505	0.083000	0.17756	3.299000	0.51826	1.133000	0.42147	0.491000	0.48974	TAC			0.637	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000080353.1		NM_172109		T	62038606	G	T	62038606	4	4	53	1	0	0	0	0	0	1	0	0	8098	1256	44	3	612	3	KCNQ2	20	62038606	Nonsense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	12812474	62038606	986914	63	3803											
RAB36	9609	mdanderson.org	37	chr22	23503703	23503703	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaatggaagggagtccGcccgagacccaggagagcaa	15	2	14	10	2	0	3	0	0	0	3	1	7	1	5	3	3	1	1	3	3	3	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr22:23503703G>T	ENST00000263116.2	+	11	994	c.954G>T	c.(952-954)ccG>ccT	p.P318P	RAB36_ENST00000341989.4_Silent_p.P296P	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	318					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AAGGGAGTCCGCCCGAGACCC	0.602																																					p.P318P													.	.			0			c.G954T												44	42	42					22																	23503703		2203	4300	6503	SO:0001819	synonymous_variant	9609	exon11			GAGTCCGCCCGAG	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.954G>T	22.37:g.23503703G>T			38	0	0		24	0.08	2	NM_004914	9	0	0	Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	ENST00000263116.2	37	CCDS13805.1																																																																																					0.602	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319046.1		NM_004914		T	23503703	G	T	23503703	2	4	53	1	0	0	0	0	0	0	0	1	12949	1074	38	1		1	RAB36	22	23503703	Silent	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10		23503703	27800863	64	3804											
C22orf36	2678	mdanderson.org	37	chr22	24981891	24981891	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggggctcgggtcccagcCcagcagctgtggagtcccag	5	6	15	15	1	0	0	0	0	0	0	3	1	2	1	4	4	3	3	4	4	0	0			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr22:24981891C>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Missense_Mutation_p.G304V	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GGGTCCCAGCCCAGCAGCTGT	0.657																																					p.G304V													.	.			0			c.G911T												9	13	12					22																	24981891		1957	4123	6080	SO:0001627	intron_variant	388886	exon4			CCCAGCCCAGCAG	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2115C>A	22.37:g.24981891C>A			14	0	0		23	0.13	3	NM_207644	21	0	0	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467756	0.43839	.	.	ENSG00000178026	ENST00000318753	T	0.44881	0.91	4.24	-2.53	0.06326	.	0.788750	0.10300	U	0.691277	T	0.30448	0.0765	L	0.44542	1.39	0.09310	N	1	B	0.30281	0.275	B	0.33196	0.159	T	0.31861	-0.9928	10	0.41790	T	0.15	-20.1459	5.0597	0.14551	0.0:0.2437:0.3063:0.45	.	304	Q2VPJ9	LRC6X_HUMAN	V	304	ENSP00000320520:G304V	ENSP00000320520:G304V	G	-	2	0	C22orf36	23311891	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.805000	0.04530	-0.232000	0.09811	0.655000	0.94253	GGG			0.657	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319110.1		NM_013430		A	24981891	C	A	24981891	1	1	53	0	1	0	0	0	0	0	0	0	2148	623	22	3		3	C22orf36	22	24981891	Intron	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	1478188	24981891	26322675	65	3805											
RPL3	6122	mdanderson.org	37	chr22	39709644	39709644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggacctgcctcaccttgcGgagggtgagcacccgcttct	6	8	12	15	2	2	1	1	1	1	0	2	3	2	3	4	3	3	2	4	3	0	2	rs375229574		TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chr22:39709644G>T	ENST00000216146.4	-	8	1215	c.1042C>A	c.(1042-1044)Cgc>Agc	p.R348S	RPL3_ENST00000465618.1_5'UTR|SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.R296S|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	348					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|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)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CTCACCTTGCGGAGGGTGAGC	0.572																																					p.R348S													.	.			0			c.C1042A												221	222	222					22																	39709644		2203	4300	6503	SO:0001583	missense	6122	exon8			CCTTGCGGAGGGT	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1042C>A	22.37:g.39709644G>T	ENSP00000346001:p.Arg348Ser		66	0	0		55	0.05	3	NM_000967	2419	0	1	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400681	0.96030	.	.	ENSG00000100316	ENST00000401609;ENST00000216146	T;T	0.28895	1.59;1.59	5.45	5.45	0.79879	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.88181	2.935	0.80722	D	1	D;D;P;P	0.63046	0.992;0.991;0.798;0.905	D;D;P;D	0.69479	0.964;0.955;0.548;0.912	T	0.70898	-0.4747	10	0.87932	D	0	.	19.2895	0.94093	0.0:0.0:1.0:0.0	.	319;296;348;299	Q8TBW1;G5E9G0;P39023;B3KS36	.;.;RL3_HUMAN;.	S	296;348	ENSP00000386101:R296S;ENSP00000346001:R348S	ENSP00000346001:R348S	R	-	1	0	RPL3	38039590	1.000000	0.71417	0.941000	0.38009	0.979000	0.70002	7.897000	0.87356	2.566000	0.86566	0.561000	0.74099	CGC			0.572	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321196.1		NM_000967		T	39709644	G	T	39709644	3	4	53	1	0	0	0	0	1	0	0	0	13602	1116	39	1	181	1	RPL3	22	39709644	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	14727753	39709644	11594922	66	3806											
OTUD5	55593	mdanderson.org	37	chrX	48781269	48781269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggggaccggctagtccactCctccaggccactggaggctg	6	6	14	15	2	0	0	0	0	0	0	3	2	3	2	5	6	0	2	5	6	1	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chrX:48781269C>T	ENST00000156084.4	-	7	1399	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	OTUD5_ENST00000428668.2_Missense_Mutation_p.E225K|OTUD5_ENST00000396743.3_Missense_Mutation_p.E442K|OTUD5_ENST00000376488.3_Missense_Mutation_p.E442K|OTUD5_ENST00000484499.1_5'Flank	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	447					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						CTAGTCCACTCCTCCAGGCCA	0.647																																					p.E447K													.	.			0			c.G1339A												26	25	25					X																	48781269		2201	4297	6498	SO:0001583	missense	55593	exon7			TCCACTCCTCCAG		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.1339G>A	X.37:g.48781269C>T	ENSP00000156084:p.Glu447Lys		80	0	0		43	0.07	3	NM_017602	121	0	0	B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171087	0.57584	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.38	4.38	0.52667	.	0.072165	0.53938	D	0.000042	T	0.32882	0.0844	L	0.36672	1.1	0.58432	D	0.99999	B;P;P	0.40731	0.067;0.608;0.728	B;B;B	0.38616	0.017;0.143;0.277	T	0.07328	-1.0778	10	0.28530	T	0.3	-15.0101	13.5481	0.61715	0.0:1.0:0.0:0.0	.	225;447;442	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	K	442;418;320;447;442;225	ENSP00000379969:E442K;ENSP00000390767:E320K;ENSP00000156084:E447K;ENSP00000365671:E442K;ENSP00000401629:E225K	ENSP00000156084:E447K	E	-	1	0	OTUD5	48666213	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.219000	0.72231	2.434000	0.82447	0.523000	0.50628	GAG			0.647	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000060799.1		NM_017602		T	48781269	C	T	48781269	3	4	53	1	0	0	0	0	1	0	0	0	11332	864	30	3	388	3	OTUD5	23	48781269	Missense_Mutation	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10		48781269	106489291	67	3807											
SLC25A5	292	mdanderson.org	37	chrX	118603654	118603654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaagcagatcactgcaGataagcaatacaaaggcatt	17	6	8	10	0	1	2	1	0	0	2	1	2	1	2	1	1	5	5	1	1	5	3			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chrX:118603654G>T	ENST00000317881.8	+	2	258	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	48					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GATCACTGCAGATAAGCAATA	0.502																																					p.D48Y													.	.			0			c.G142T												244	240	241					X																	118603654		2203	4300	6503	SO:0001583	missense	292	exon2			ACTGCAGATAAGC	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.142G>T	X.37:g.118603654G>T	ENSP00000360671:p.Asp48Tyr		89	0	0		45	0.07	3	NM_001152	301	0	0	B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923061	0.73213	.	.	ENSG00000005022	ENST00000317881	T	0.79554	-1.28	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.047678	0.85682	D	0.000000	D	0.86883	0.6040	M	0.89287	3.02	0.80722	D	1	B	0.26147	0.143	B	0.39339	0.297	D	0.88373	0.2996	10	0.87932	D	0	.	15.4079	0.74893	0.0:0.0:1.0:0.0	.	48	P05141	ADT2_HUMAN	Y	48	ENSP00000360671:D48Y	ENSP00000360671:D48Y	D	+	1	0	SLC25A5	118487682	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	9.473000	0.97714	2.019000	0.59389	0.529000	0.55759	GAT			0.502	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058952.2		NM_001152		T	118603654	G	T	118603654	3	4	53	1	0	0	0	0	1	0	0	0	14535	942	33	3	148	3	SLC25A5	23	118603654	Missense_Mutation	SNP	G	TCGA-2G-AAHN-01A-11D-A42Y-10	69822385	118603654	36666906	68	3808											
ATP6AP1	537	mdanderson.org	37	chrX	153661316	153661316	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggaagtcctcacaggcaaCggtgagtagaatcagggagg	13	5	16	7	1	2	2	2	1	0	1	3	4	3	4	1	5	1	2	1	5	4	1			TCGA-2G-AAHN-01A-11D-A42Y-10	TCGA-2G-AAHN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7eda3025-76bf-4914-a2a7-afad6491006b	23de8c57-d3d5-4159-b0d5-283a67238ac3	g.chrX:153661316C>T	ENST00000369762.2	+	5	658	c.597C>T	c.(595-597)aaC>aaT	p.N199N	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	199					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					TCACAGGCAACGGTGAGTAGA	0.617																																					p.N199N													.	.			0			c.C597T												144	108	120					X																	153661316		2203	4300	6503	SO:0001630	splice_region_variant	537	exon5			AGGCAACGGTGAG	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.598+1C>T	X.37:g.153661316C>T			60	0	0		50	0.06	3	NM_001183	274	0	0	A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	ENST00000369762.2	37	CCDS35451.1																																																																																					0.617	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000081639.4		NM_001183	Silent	T	153661316	C	T	153661316	5	4	53	1	0	0	0	0	0	0	1	0	1165	550	19	1	615	1	ATP6AP1	23	153661316	Splice_Site	SNP	C	TCGA-2G-AAHN-01A-11D-A42Y-10	35057662	153661316	1609244	69	3809											
RERE	473	mdanderson.org	37	chr1	8421286	8421286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggccctggcgtgggcaGctgaggggtccctggaggag	4	6	21	10	2	0	1	0	1	0	0	1	3	1	3	2	7	1	2	2	7	0	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:8421286G>T	ENST00000337907.3	-	19	2915	c.2281C>A	c.(2281-2283)Ctg>Atg	p.L761M	RERE_ENST00000400908.2_Missense_Mutation_p.L761M|RERE_ENST00000377464.1_Missense_Mutation_p.L493M|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.L207M	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	761	Pro-rich.				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)		GGCGTGGGCAGCTGAGGGGTC	0.721																																					p.L761M													.	.			0			c.C2281A												15	18	17					1																	8421286		2188	4288	6476	SO:0001583	missense	473	exon19			TGGGCAGCTGAGG	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.2281C>A	1.37:g.8421286G>T	ENSP00000338629:p.Leu761Met		19	0	0		16	0.19	3	NM_012102	26	0	0	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302282	0.23736	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.45276	0.93;0.9;0.93	5.6	4.68	0.58851	.	.	.	.	.	T	0.46619	0.1402	L	0.51422	1.61	0.33300	D	0.564748	P;P	0.43938	0.822;0.801	P;P	0.48524	0.549;0.58	T	0.58429	-0.7638	9	0.33940	T	0.23	-10.0446	13.6352	0.62219	0.0744:0.0:0.9256:0.0	.	493;761	B1AKN3;Q9P2R6	.;RERE_HUMAN	M	761;493;207;761	ENSP00000338629:L761M;ENSP00000366684:L493M;ENSP00000383700:L761M	ENSP00000338629:L761M	L	-	1	2	RERE	8343873	0.354000	0.24912	0.756000	0.31282	0.114000	0.19823	1.841000	0.39240	1.384000	0.46424	0.561000	0.74099	CTG			0.721	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004916.1				T	8421286	G	T	8421286	3	4	54	1	0	0	0	0	1	0	0	0	13254	962	34	2	2443	2	RERE	1	8421286	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10		8421286	240829335	1	3810											
HIVEP3	59269	mdanderson.org	37	chr1	42046701	42046701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttttgatctggggcagatgGctttccacatcaccagggag	8	11	13	9	0	2	2	1	1	1	1	3	3	3	3	2	4	0	3	2	4	0	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:42046701G>A	ENST00000372583.1	-	4	4653	c.3768C>T	c.(3766-3768)agC>agT	p.S1256S	HIVEP3_ENST00000372584.1_Silent_p.S1256S|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Silent_p.S1256S|HIVEP3_ENST00000429157.2_Silent_p.S1256S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1256					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)				GGGGCAGATGGCTTTCCACAT	0.587																																					p.S1256S													.	.			0			c.C3768T												51	54	53					1																	42046701		2203	4300	6503	SO:0001819	synonymous_variant	59269	exon4			CAGATGGCTTTCC	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.3768C>T	1.37:g.42046701G>A			52	0	0		34	0.09	3	NM_024503	2	0	0	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																					0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000016978.1		NM_024503		A	42046701	G	A	42046701	2	1	54	1	0	0	0	0	0	0	0	1	7203	1194	42	2		2	HIVEP3	1	42046701	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	33625415	42046701	207203920	2	3811											
KLF17	128209	mdanderson.org	37	chr1	44595437	44595437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagtctcggcttccactgGaatcccaataatgtcccaca	10	9	7	15	1	1	0	0	0	1	0	5	1	4	1	4	2	0	1	4	2	3	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:44595437G>T	ENST00000372299.3	+	2	552	c.494G>T	c.(493-495)gGa>gTa	p.G165V	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	165					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GCTTCCACTGGAATCCCAATA	0.572																																					p.G165V													.	.			0			c.G494T												36	40	39					1																	44595437		2203	4300	6503	SO:0001583	missense	128209	exon2			CCACTGGAATCCC	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.494G>T	1.37:g.44595437G>T	ENSP00000361373:p.Gly165Val		70	0	0		49	0.06	3	NM_173484	0		0	Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468441	0.43839	.	.	ENSG00000171872	ENST00000372299	T	0.11277	2.79	4.43	2.52	0.30459	.	0.268702	0.26903	N	0.021917	T	0.08980	0.0222	L	0.36672	1.1	0.19945	N	0.999941	P	0.37781	0.608	B	0.38225	0.268	T	0.17107	-1.0380	10	0.66056	D	0.02	.	7.1981	0.25864	0.0:0.2248:0.5945:0.1807	.	165	Q5JT82	KLF17_HUMAN	V	165	ENSP00000361373:G165V	ENSP00000361373:G165V	G	+	2	0	KLF17	44368024	0.207000	0.23482	0.001000	0.08648	0.009000	0.06853	0.955000	0.29188	0.774000	0.33427	0.650000	0.86243	GGA			0.572	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000026646.1		NM_173484		T	44595437	G	T	44595437	3	4	54	1	0	0	0	0	1	0	0	0	8360	1174	41	3	500	3	KLF17	1	44595437	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	2548736	44595437	204655184	3	3812											
DENND2D	79961	mdanderson.org	37	chr1	111739831	111739831	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagcagccgatgcagctGatgatgcagtacactttggg	10	8	13	10	2	0	2	0	2	0	0	0	4	0	2	2	1	6	5	2	1	2	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:111739831G>T	ENST00000357640.4	-	5	700	c.471C>A	c.(469-471)atC>atA	p.I157I	DENND2D_ENST00000369752.5_Silent_p.I154I|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	157	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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)		CGATGCAGCTGATGATGCAGT	0.622																																					p.I157I													.	.			0			c.C471A												48	42	44					1																	111739831		2203	4300	6503	SO:0001819	synonymous_variant	79961	exon5			GCAGCTGATGATG		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.471C>A	1.37:g.111739831G>T			45	0	0		19	0.11	2	NM_024901	6	0	0	Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	37	CCDS831.1																																																																																					0.622	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000034456.1		NM_024901		T	111739831	G	T	111739831	2	4	54	1	0	0	0	0	0	0	0	1	4436	1280	45	3		3	DENND2D	1	111739831	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	67144394	111739831	137510790	4	3813											
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	181765833	181765833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacactcaccgctcagggGgcagggagcggggacgatca	9	4	16	12	3	3	1	3	1	0	0	3	4	3	3	1	5	1	2	1	5	0	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:181765833G>A	ENST00000367573.2	+	47	6238	c.6238G>A	c.(6238-6240)Ggc>Agc	p.G2080S	CACNA1E_ENST00000526775.1_Missense_Mutation_p.G2018S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2031S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2037S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2061S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1969S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1644S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2080					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						CCGCTCAGGGGGCAGGGAGCG	0.542																																					p.G2080S													.	.			0			c.G6238A												45	47	47					1																	181765833		1958	4160	6118	SO:0001583	missense	777	exon47			TCAGGGGGCAGGG	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.6238G>A	1.37:g.181765833G>A	ENSP00000356545:p.Gly2080Ser		124	0	0		125	0.3	38	NM_001205293	2	0.5	1	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194043	0.58017	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95918	-3.78;-3.78;-3.74;-3.78;-3.85;-3.74;-3.74	5.91	5.91	0.95273	.	0.632802	0.16303	N	0.220369	D	0.90345	0.6979	N	0.08118	0	0.51233	D	0.999912	B;B	0.29136	0.234;0.1	B;B	0.32289	0.143;0.068	D	0.86345	0.1707	10	0.16420	T	0.52	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	2018;2037	Q15878-2;Q15878-3	.;.	S	2037;2018;2031;1969;1644;2061;2080	ENSP00000356542:G2037S;ENSP00000434814:G2018S;ENSP00000350183:G2031S;ENSP00000351101:G1969S;ENSP00000356539:G1644S;ENSP00000353222:G2061S;ENSP00000356545:G2080S	ENSP00000350183:G2031S	G	+	1	0	CACNA1E	180032456	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.472000	0.66768	2.793000	0.96121	0.655000	0.94253	GGC			0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000090793.2		NM_000721		A	181765833	G	A	181765833	3	1	54	1	0	0	0	0	1	0	0	0	2544	1232	43	3	6291	3	CACNA1E	1	181765833	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	70026002	181765833	67484788	5	3814											
PRG4	10216	broad.mit.edu	37	chr1	186276585	186276585	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccaagaagcctgccccAactacccccaaggagcctgc	11	3	7	20	0	0	1	0	0	0	1	0	2	0	2	8	1	6	0	8	1	5	1			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:186276585A>C	ENST00000445192.2	+	7	1779	c.1734A>C	c.(1732-1734)ccA>ccC	p.P578P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.P485P|PRG4_ENST00000367486.3_Silent_p.P535P|PRG4_ENST00000367483.4_Silent_p.P537P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	578	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGCCTGCCCCAACTACCCCCA	0.642																																					p.P578P													.	PRG4	259		0			c.A1734C												89	92	91					1																	186276585		2203	4300	6503	SO:0001819	synonymous_variant	10216	exon7			TGCCCCAACTACC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1734A>C	1.37:g.186276585A>C			74	0.0540540541	4		96	0.22	21	NM_005807	0		0	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																					0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000086346.1		NM_005807		C	186276585	A	C	186276585	2	2	54	1	0	0	0	0	0	0	0	1	12501	117	5	4		4	PRG4	1	186276585	Silent	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10	4510752	186276585	62974036	6	3815											
NAV1	89796	bcgsc.ca	37	chr1	201778383	201778383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcccccgcagcacatcatCaaaggggtaaggaacttcag	13	6	10	12	1	3	0	3	0	0	0	3	1	3	1	2	3	3	3	2	3	3	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:201778383C>G	ENST00000367296.4	+	21	4719	c.4299C>G	c.(4297-4299)atC>atG	p.I1433M	NAV1_ENST00000367297.4_Missense_Mutation_p.I1425M|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.I1373M|NAV1_ENST00000367302.1_Missense_Mutation_p.I1386M|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.I1430M|NAV1_ENST00000367295.1_Missense_Mutation_p.I1039M	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1433					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						AGCACATCATCAAAGGGGTAA	0.517																																					p.I1433M													.	NAV1	143		0			c.C4299G												98	96	96					1																	201778383		2203	4300	6503	SO:0001583	missense	89796	exon21			CATCATCAAAGGG	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.4299C>G	1.37:g.201778383C>G	ENSP00000356265:p.Ile1433Met		400	0	0		312	0	0	NM_020443	19	0	0	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543324	0.65198	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.07114	3.24;3.22;3.22;3.22;3.24;3.23	5.57	5.57	0.84162	.	0.181162	0.48286	D	0.000188	T	0.12092	0.0294	L	0.29908	0.895	0.43214	D	0.995088	P;P	0.50443	0.935;0.935	P;P	0.52856	0.711;0.52	T	0.05338	-1.0891	10	0.34782	T	0.22	-35.5935	12.5291	0.56104	0.0:0.923:0.0:0.077	.	1039;1430	Q8NEY1-5;Q8NEY1-3	.;.	M	1386;1433;1430;1425;1373;1039	ENSP00000356271:I1386M;ENSP00000356265:I1433M;ENSP00000295624:I1430M;ENSP00000356266:I1425M;ENSP00000356269:I1373M;ENSP00000356264:I1039M	ENSP00000295624:I1430M	I	+	3	3	NAV1	200045006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.532000	0.53553	2.620000	0.88729	0.563000	0.77884	ATC			0.517	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000087013.1		NM_020443		G	201778383	C	G	201778383	3	3	54	1	0	0	0	0	1	0	0	0	10199	816	29	5	4438	5	NAV1	1	201778383	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	15501798	201778383	47472238	7	3816											
SYT2	127833	broad.mit.edu	37	chr1	202566020	202566020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtggcattgctgcccacGaagatcttgcctatggcttc	6	11	10	14	2	1	1	0	0	1	1	2	2	1	1	3	2	3	3	3	2	2	4	rs139376371		TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:202566020G>T	ENST00000367267.1	-	9	1317	c.1125C>A	c.(1123-1125)ttC>ttA	p.F375L	SYT2_ENST00000367268.4_Missense_Mutation_p.F375L	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	375	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TGCTGCCCACGAAGATCTTGC	0.612																																					p.F375L													.	SYT2	51		0			c.C1125A												103	83	90					1																	202566020		2203	4300	6503	SO:0001583	missense	127833	exon9			GCCCACGAAGATC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.1125C>A	1.37:g.202566020G>T	ENSP00000356236:p.Phe375Leu		101	0.0099009901	1		115	0.05	6	NM_001136504	8	0	0	Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958750	0.34565	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.70869	-0.52;-0.52	5.2	-7.88	0.01178	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.169047	0.52532	D	0.000079	T	0.46367	0.1389	N	0.17594	0.5	0.42120	D	0.991427	B	0.26708	0.157	B	0.29716	0.106	T	0.40059	-0.9583	10	0.09590	T	0.72	.	15.5348	0.75993	0.6211:0.0:0.3789:0.0	.	375	Q8N9I0	SYT2_HUMAN	L	375	ENSP00000356237:F375L;ENSP00000356236:F375L	ENSP00000356236:F375L	F	-	3	2	SYT2	200832643	0.022000	0.18835	0.382000	0.26119	0.927000	0.56198	-0.962000	0.03841	-2.380000	0.00594	-1.608000	0.00805	TTC			0.612	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000099157.1		NM_177402		T	202566020	G	T	202566020	3	4	54	1	0	0	0	0	1	0	0	0	15497	1049	37	1	138	1	SYT2	1	202566020	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	787637	202566020	46684601	8	3817											
RYR2	6262	bcgsc.ca	37	chr1	237789007	237789007	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggatggaaacagtgatttAacaattagagggcgtctgct	12	11	12	6	1	1	2	0	1	1	1	1	4	1	4	0	3	3	1	0	3	4	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:237789007A>C	ENST00000366574.2	+	40	6386	c.6069A>C	c.(6067-6069)ttA>ttC	p.L2023F	RYR2_ENST00000542537.1_Missense_Mutation_p.L2007F|RYR2_ENST00000360064.6_Missense_Mutation_p.L2021F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2023	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)			ACAGTGATTTAACAATTAGAG	0.393																																					p.L2023F													.	RYR2	1273		0			c.A6069C												127	119	121					1																	237789007		1840	4091	5931	SO:0001583	missense	6262	exon40			TGATTTAACAATT	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.6069A>C	1.37:g.237789007A>C	ENSP00000355533:p.Leu2023Phe		65	0	0		73	0	0	NM_001035	0		0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	7.281	0.609083	0.14066	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72942	-0.7;-0.7;-0.7	5.61	-1.25	0.09405	.	0.124078	0.31577	U	0.007406	T	0.37571	0.1008	N	0.04959	-0.14	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07654	-1.0761	10	0.09843	T	0.71	.	5.1162	0.14834	0.523:0.2642:0.2127:0.0	.	2023	Q92736	RYR2_HUMAN	F	2023;2021;2007	ENSP00000355533:L2023F;ENSP00000353174:L2021F;ENSP00000443798:L2007F	ENSP00000353174:L2021F	L	+	3	2	RYR2	235855630	0.996000	0.38824	0.986000	0.45419	0.974000	0.67602	0.535000	0.23114	-0.144000	0.11314	-0.256000	0.11100	TTA			0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095402.2		NM_001035		C	237789007	A	C	237789007	3	2	54	1	0	0	0	0	1	0	0	0	13792	359	13	4	6227	4	RYR2	1	237789007	Missense_Mutation	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10	35222987	237789007	11461614	9	3818											
ZNF672	79894	broad.mit.edu	37	chr1	249141630	249141630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcggtgagcgctgtgcaCgggctgctgacctccgagcg	6	7	16	12	5	0	2	0	2	0	0	1	3	1	2	2	2	5	4	2	2	1	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr1:249141630C>T	ENST00000306562.3	+	4	903	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	53					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(1)	5	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)			GCGCTGTGCACGGGCTGCTGA	0.632																																					p.R53W													.	ZNF672	32		0			c.C157T												34	25	28					1																	249141630		2199	4298	6497	SO:0001583	missense	79894	exon4			TGTGCACGGGCTG	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.157C>T	1.37:g.249141630C>T	ENSP00000421915:p.Arg53Trp		100	0	0		98	0.03	3	NM_024836	19	0	0	Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	8.857	0.945992	0.18356	.	.	ENSG00000171161	ENST00000306562;ENST00000428515;ENST00000306576	T;T	0.58210	1.53;0.35	4.16	-3.36	0.04913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.136130	0.03384	U	0.200824	T	0.36908	0.0984	L	0.43646	1.37	0.09310	N	1	P	0.51537	0.946	B	0.33799	0.17	T	0.47471	-0.9115	10	0.48119	T	0.1	.	6.5107	0.22220	0.1251:0.3073:0.4896:0.078	.	53	Q499Z4	ZN672_HUMAN	W	53	ENSP00000421915:R53W;ENSP00000427021:R53W	ENSP00000421915:R53W	R	+	1	2	ZNF672	247108253	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.375000	0.01071	-0.803000	0.04415	-0.150000	0.13652	CGG			0.632	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097125.2		NM_024836		T	249141630	C	T	249141630	3	4	54	1	0	0	0	0	1	0	0	0	18102	527	19	1	159	1	ZNF672	1	249141630	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	11352623	249141630	108991	10	3819											
NEB	4703	broad.mit.edu	37	chr2	152382707	152382707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgacagtcttcgccagcaGgatctgaggcgtgtcaggta	8	9	14	10	2	3	2	1	2	2	0	4	3	3	3	1	3	1	3	1	3	1	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr2:152382707G>T	ENST00000172853.10	-	121	17059	c.16912C>A	c.(16912-16914)Ctg>Atg	p.L5638M	NEB_ENST00000604864.1_Missense_Mutation_p.L7339M|NEB_ENST00000409198.1_Missense_Mutation_p.L5638M|NEB_ENST00000603639.1_Missense_Mutation_p.L7339M|NEB_ENST00000427231.2_Missense_Mutation_p.L7339M|NEB_ENST00000397345.3_Missense_Mutation_p.L7339M			P20929	NEBU_HUMAN	nebulin	5638					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)		TTCGCCAGCAGGATCTGAGGC	0.537																																					p.L7374M													.	NEB	1697		0			c.C22120A												74	78	77					2																	152382707		1969	4142	6111	SO:0001583	missense	4703	exon150			CCAGCAGGATCTG	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.16912C>A	2.37:g.152382707G>T	ENSP00000172853:p.Leu5638Met		158	0	0		155	0.03	5	NM_001271208	8	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	19.09	3.759402	0.69763	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	6.07	6.07	0.98685	.	0.111817	0.64402	D	0.000007	T	0.64238	0.2580	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.991;0.991;0.997	T	0.60419	-0.7267	10	0.44086	T	0.13	.	15.3849	0.74691	0.0:0.0:0.8607:0.1393	.	5638;7339;2069	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	M	5638;7339;7339;1687;2069;5638	ENSP00000386259:L5638M;ENSP00000380505:L7339M;ENSP00000416578:L7339M;ENSP00000410961:L2069M;ENSP00000172853:L5638M	ENSP00000172853:L5638M	L	-	1	2	NEB	152090953	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.582000	0.67477	2.885000	0.99019	0.655000	0.94253	CTG			0.537	NEB-201	KNOWN	basic	protein_coding	protein_coding				NM_004543		T	152382707	G	T	152382707	3	4	54	1	0	0	0	0	1	0	0	0	10319	991	35	3	3698	3	NEB	2	152382707	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10		152382707	90816666	11	3820											
XIRP2	129446	broad.mit.edu	37	chr2	168114492	168114492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcataaagatagatggaactGcaaaaaccaaagcagatcag	20	5	9	7	0	1	3	1	0	0	3	1	4	1	4	1	1	4	3	1	1	7	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr2:168114492G>A	ENST00000409728.1	+	11	1624	c.1535G>A	c.(1534-1536)tGc>tAc	p.C512Y	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.C479Y|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.C512Y|XIRP2_ENST00000409605.1_Missense_Mutation_p.C257Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.C479Y	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				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						AGATGGAACTGCAAAAACCAA	0.338																																					p.C512Y													.	XIRP2	914		0			c.G1535A												86	80	82					2																	168114492		1843	4084	5927	SO:0001583	missense	129446	exon11			GGAACTGCAAAAA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1535G>A	2.37:g.168114492G>A	ENSP00000386619:p.Cys512Tyr		264	0	0		258	0.02	5	NM_001199143	0		0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749902	0.30955	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.77229	-1.07;-1.07;-1.07;-1.07;-1.08	5.82	-0.596	0.11657	.	.	.	.	.	T	0.65417	0.2689	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.55095	-0.8194	8	0.56958	D	0.05	.	7.0227	0.24922	0.3053:0.4012:0.2935:0.0	.	479;512	A4UGR9-4;A4UGR9-6	.;.	Y	479;512;479;512;257	ENSP00000386454:C479Y;ENSP00000386619:C512Y;ENSP00000386724:C479Y;ENSP00000415541:C512Y;ENSP00000386981:C257Y	ENSP00000386454:C479Y	C	+	2	0	XIRP2	167822738	0.000000	0.05858	0.458000	0.27068	0.532000	0.34746	-0.168000	0.09925	-0.115000	0.11915	0.655000	0.94253	TGC			0.338	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333552.1		NM_152381		A	168114492	G	A	168114492	3	1	54	1	0	0	0	0	1	0	0	0	17454	1319	46	2	10853	2	XIRP2	2	168114492	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	15731785	168114492	75084881	12	3821											
HDLBP	3069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	242189261	242189261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccatggcacttaccatgcGagatgcaagctccagcagct	11	7	10	13	1	0	1	0	0	0	1	1	2	1	1	3	1	7	5	3	1	2	1			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr2:242189261G>A	ENST00000391975.1	-	12	1734	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C	HDLBP_ENST00000310931.4_Missense_Mutation_p.R503C|HDLBP_ENST00000391976.2_Missense_Mutation_p.R503C|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000427183.2_Missense_Mutation_p.R470C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	503	KH 5. {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)		CTTACCATGCGAGATGCAAGC	0.602																																					p.R503C													.	.			0			c.C1507T												96	78	84					2																	242189261		2203	4300	6503	SO:0001583	missense	3069	exon12			CCATGCGAGATGC		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.1507C>T	2.37:g.242189261G>A	ENSP00000375836:p.Arg503Cys		44	0	0		35	0.34	12	NM_005336	186	0.3	55	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.101438|4.101438	0.76983|0.76983	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|T	0.44083|0.41400	0.93;0.93;0.93;0.93|1.0	5.57|5.57	4.7|4.7	0.59300|0.59300	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51466|0.51466	0.1676|0.1676	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.962;0.99|.	T|T	0.44967|0.44967	-0.9293|-0.9293	10|7	0.87932|0.21540	D|T	0|0.41	-14.4239|-14.4239	14.7226|14.7226	0.69317|0.69317	0.0696:0.0:0.9303:0.0|0.0696:0.0:0.9303:0.0	.|.	470;503|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	C|L	503;503;503;470|311	ENSP00000375836:R503C;ENSP00000375837:R503C;ENSP00000312042:R503C;ENSP00000399139:R470C|ENSP00000362389:S311L	ENSP00000312042:R503C|ENSP00000362389:S311L	R|S	-|-	1|2	0|0	HDLBP|HDLBP	241837934|241837934	1.000000|1.000000	0.71417|0.71417	0.855000|0.855000	0.33649|0.33649	0.478000|0.478000	0.33099|0.33099	9.722000|9.722000	0.98770|0.98770	1.497000|1.497000	0.48584|0.48584	0.655000|0.655000	0.94253|0.94253	CGC|TCG			0.602	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257245.5		NM_203346		A	242189261	G	A	242189261	3	1	54	1	0	0	0	0	1	0	0	0	7040	1058	37	1	2367	1	HDLBP	2	242189261	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	74074769	242189261	1010112	13	3822											
PLXND1	23129	broad.mit.edu;mdanderson.org	37	chr3	129324383	129324383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaagacagcaaagagcCgctcccgggctgggaagacc	11	3	14	13	3	0	3	0	0	0	3	2	5	1	4	3	2	2	4	3	2	3	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr3:129324383C>A	ENST00000324093.4	-	1	1278	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L	PLXND1_ENST00000393239.1_Missense_Mutation_p.R367L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	367	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						AGCAAAGAGCCGCTCCCGGGC	0.736																																					p.R367L	Ovarian(97;366 1484 3738 22084 39045)												.	PLXND1	149		0			c.G1100T												1	1	1					3																	129324383		1048	2263	3311	SO:0001583	missense	23129	exon1			AAGAGCCGCTCCC	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.1100G>T	3.37:g.129324383C>A	ENSP00000317128:p.Arg367Leu		25	0	0		12	0.5	6	NM_015103	1	0	0	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	c	3.249	-0.153752	0.06585	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.08546	3.08;3.08	4.59	-3.13	0.05266	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.705740	0.04537	N	0.387372	T	0.02688	0.0081	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43065	-0.9414	10	0.28530	T	0.3	.	6.3201	0.21213	0.3814:0.3908:0.0:0.2278	.	367	Q9Y4D7	PLXD1_HUMAN	L	367	ENSP00000317128:R367L;ENSP00000376931:R367L	ENSP00000317128:R367L	R	-	2	0	PLXND1	130807073	0.000000	0.05858	0.205000	0.23548	0.069000	0.16628	-0.287000	0.08388	-0.915000	0.03823	0.299000	0.19835	CGG			0.736	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356132.4		NM_015103		A	129324383	C	A	129324383	3	1	54	1	0	0	0	0	1	0	0	0	12144	652	23	1	4821	1	PLXND1	3	129324383	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10		129324383	68698047	14	3823											
COL6A5	256076	broad.mit.edu	37	chr3	130134524	130134524	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggcagaaaaggagaaaaAggaagccaggggcagaaagg	18	1	16	6	0	0	3	0	0	0	3	0	5	0	4	2	6	1	2	2	6	6	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr3:130134524A>G	ENST00000432398.2	+	23	5291	c.4797A>G	c.(4795-4797)aaA>aaG	p.K1599K	COL6A5_ENST00000265379.6_Silent_p.K1599K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1599	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAGGAGAAAAAGGAAGCCAGG	0.418																																					p.K1599K													.	COL6A5	205		0			c.A4797G												72	70	70					3																	130134524		692	1591	2283	SO:0001819	synonymous_variant	256076	exon23			AGAAAAAGGAAGC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4797A>G	3.37:g.130134524A>G			644	0.001552795	1		547	0.01	4	NM_153264	0		0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37																																																																																						0.418	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_153264		G	130134524	A	G	130134524	2	3	54	1	0	0	0	0	0	0	0	1	3704	69	3	4		4	COL6A5	3	130134524	Silent	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10	810141	130134524	67887906	15	3824											
LAMP3	27074	mdanderson.org	37	chr3	182841955	182841955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagagaccaaccacgatggCcccaatcacaggaagcacaa	16	2	9	14	1	1	1	1	0	0	1	1	4	1	2	4	2	2	2	4	2	4	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr3:182841955C>T	ENST00000265598.3	-	6	1420	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	LAMP3_ENST00000466939.1_Missense_Mutation_p.A365T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	389					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)			ACCACGATGGCCCCAATCACA	0.468																																					p.A389T													.	.			0			c.G1165A												141	128	132					3																	182841955		2203	4300	6503	SO:0001583	missense	27074	exon6			CGATGGCCCCAAT	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.1165G>A	3.37:g.182841955C>T	ENSP00000265598:p.Ala389Thr		123	0	0		129	0.04	5	NM_014398	4	0	0	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189660	0.57909	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.37411	1.2;1.2	5.92	3.0	0.34707	.	0.996122	0.08136	N	0.992425	T	0.39009	0.1062	L	0.54323	1.7	0.20489	N	0.999899	P	0.36354	0.549	P	0.46049	0.502	T	0.36089	-0.9762	10	0.20046	T	0.44	-5.5204	4.3107	0.10969	0.1807:0.6326:0.0:0.1866	.	389	Q9UQV4	LAMP3_HUMAN	T	389;365	ENSP00000265598:A389T;ENSP00000418912:A365T	ENSP00000265598:A389T	A	-	1	0	LAMP3	184324649	0.000000	0.05858	0.997000	0.53966	0.966000	0.64601	0.066000	0.14489	0.832000	0.34804	0.561000	0.74099	GCC			0.468	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350863.1				T	182841955	C	T	182841955	3	4	54	1	0	0	0	0	1	0	0	0	8634	739	26	2	89	2	LAMP3	3	182841955	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	52707431	182841955	15180475	16	3825											
PDS5A	23244	bcgsc.ca	37	chr4	39839559	39839559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttggcattacctgcttcCaaacccccagggctctcctg	6	11	8	16	0	1	0	0	0	1	0	3	0	2	0	5	2	3	4	5	2	2	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr4:39839559C>G	ENST00000303538.8	-	32	4466	c.3927G>C	c.(3925-3927)ttG>ttC	p.L1309F		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						TACCTGCTTCCAAACCCCCAG	0.448																																					p.L1309F													.	PDS5A	114		0			c.G3927C												95	94	94					4																	39839559		1909	4127	6036	SO:0001583	missense	23244	exon32			TGCTTCCAAACCC	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.3927G>C	4.37:g.39839559C>G	ENSP00000303427:p.Leu1309Phe		139	0	0		96	0	0	NM_001100399	52	0	0		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804407	0.50315	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.31	5.31	0.75309	.	0.365653	0.24705	N	0.036276	T	0.30070	0.0753	N	0.08118	0	0.80722	D	1	B	0.27068	0.167	B	0.27715	0.082	T	0.17167	-1.0378	8	.	.	.	-5.662	10.1833	0.42982	0.0:0.8772:0.0:0.1228	.	1309	Q29RF7	PDS5A_HUMAN	F	1309	.	.	L	-	3	2	PDS5A	39515954	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.740000	0.38228	2.477000	0.83638	0.655000	0.94253	TTG			0.448	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361287.1		NM_015200		G	39839559	C	G	39839559	3	3	54	1	0	0	0	0	1	0	0	0	11708	593	21	5	94	5	PDS5A	4	39839559	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10		39839559	151314717	17	3826											
GSX2	170825	mdanderson.org	37	chr4	54966518	54966518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccctctcgacatgtcgCgctccttctatgtcgactcg	5	11	7	18	5	2	0	0	0	2	0	7	2	3	0	4	0	0	1	4	0	1	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr4:54966518C>A	ENST00000326902.2	+	1	321	c.7C>A	c.(7-9)Cgc>Agc	p.R3S	GSX2_ENST00000503800.1_Missense_Mutation_p.R3S|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	3					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGACATGTCGCGCTCCTTCTA	0.652																																					p.R3S													.	.			0			c.C7A												51	38	42					4																	54966518		2202	4300	6502	SO:0001583	missense	170825	exon1			ATGTCGCGCTCCT		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.7C>A	4.37:g.54966518C>A	ENSP00000319118:p.Arg3Ser		70	0.0142857143	1		48	0.06	3	NM_133267	0		0		Missense_Mutation	SNP	ENST00000326902.2	37	CCDS3494.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325593	0.60743	.	.	ENSG00000180613	ENST00000326902;ENST00000503800	T;T	0.79454	-1.27;-1.27	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	M	0.79926	2.475	0.51767	D	0.999937	D	0.89917	1.0	D	0.81914	0.995	D	0.88793	0.3279	10	0.87932	D	0	.	12.8625	0.57922	0.1628:0.8372:0.0:0.0	.	3	Q9BZM3	GSX2_HUMAN	S	3	ENSP00000319118:R3S;ENSP00000422213:R3S	ENSP00000319118:R3S	R	+	1	0	GSX2	54661275	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.738000	0.68613	2.436000	0.82500	0.491000	0.48974	CGC			0.652	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250595.1		NM_133267		A	54966518	C	A	54966518	3	1	54	1	0	0	0	0	1	0	0	0	6865	768	27	1	9	1	GSX2	4	54966518	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	15126959	54966518	136187758	18	3827											
EPHA5	2044	mdanderson.org	37	chr4	66270181	66270181	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggaatctggctttgatcGctggatgctgcaactgctga	9	11	12	9	1	1	2	0	2	1	0	2	4	1	4	0	3	4	5	0	3	2	1			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr4:66270181G>A	ENST00000273854.3	-	8	2301	c.1701C>T	c.(1699-1701)agC>agT	p.S567S	EPHA5_ENST00000511294.1_Silent_p.S568S|EPHA5_ENST00000432638.2_Silent_p.S404S|EPHA5_ENST00000354839.4_Silent_p.S567S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	567					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGCTTTGATCGCTGGATGCTG	0.433										TSP Lung(17;0.13)																											p.S567S													.	.			0			c.C1701T												112	95	101					4																	66270181		2203	4300	6503	SO:0001819	synonymous_variant	2044	exon8			TTGATCGCTGGAT	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1701C>T	4.37:g.66270181G>A			77	0.012987013	1		67	0.06	4	NM_182472	0		0	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																					0.433	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251388.2		NM_004439		A	66270181	G	A	66270181	2	1	54	1	0	0	0	0	0	0	0	1	5177	1078	38	1		1	EPHA5	4	66270181	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	11303663	66270181	124884095	19	3828											
SDAD1	55153	broad.mit.edu	37	chr4	76903125	76903125	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctgctagttctttgctGggtttatttggttgcaattt	5	20	10	6	0	2	0	0	0	2	0	2	0	2	0	0	2	4	7	0	2	3	8			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr4:76903125G>T	ENST00000356260.5	-	2	274	c.156C>A	c.(154-156)ccC>ccA	p.P52P	RP11-630D6.5_ENST00000501239.2_RNA|SDAD1_ENST00000395711.4_Silent_p.P52P	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	52					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)			GTTCTTTGCTGGGTTTATTTG	0.323																																					p.P52P													.	SDAD1	47		0			c.C156A												124	115	118					4																	76903125		2203	4299	6502	SO:0001819	synonymous_variant	55153	exon2			TTTGCTGGGTTTA	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.156C>A	4.37:g.76903125G>T			81	0.012345679	1		70	0.06	4	NM_018115	23	0	0	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	ENST00000356260.5	37	CCDS3573.2																																																																																					0.323	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252418.3		NM_018115		T	76903125	G	T	76903125	2	4	54	1	0	0	0	0	0	0	0	1	13973	1335	47	3		3	SDAD1	4	76903125	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	10632944	76903125	114251151	20	3829											
FRAS1	80144	mdanderson.org	37	chr4	79284696	79284696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgccagcactgtgcaGctgatctccacaacactggg	9	8	10	14	0	1	1	0	1	1	0	2	1	1	1	3	1	5	3	3	1	1	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr4:79284696G>T	ENST00000325942.6	+	21	2892	c.2452G>T	c.(2452-2454)Gct>Tct	p.A818S	FRAS1_ENST00000264895.6_Missense_Mutation_p.A818S	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	818					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						GCACTGTGCAGCTGATCTCCA	0.577																																					p.A818S													.	.			0			c.G2452T												42	42	42					4																	79284696		2125	4243	6368	SO:0001583	missense	80144	exon21			TGTGCAGCTGATC	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.2452G>T	4.37:g.79284696G>T	ENSP00000326330:p.Ala818Ser		77	0	0		51	0.06	3	NM_025074	2	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760796	0.69763	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.28454	1.61;1.69	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	N	0.25094	0.71	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.97;0.998	T	0.37430	-0.9706	10	0.42905	T	0.14	.	18.5611	0.91100	0.0:0.0:1.0:0.0	.	818;818	E9PHH6;A2RRR8	.;.	S	818	ENSP00000326330:A818S;ENSP00000264895:A818S	ENSP00000264895:A818S	A	+	1	0	FRAS1	79503720	1.000000	0.71417	0.076000	0.20297	0.433000	0.31745	7.000000	0.76290	2.393000	0.81446	0.585000	0.79938	GCT			0.577	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000362706.2				T	79284696	G	T	79284696	3	4	54	1	0	0	0	0	1	0	0	0	6055	971	34	2	2534	2	FRAS1	4	79284696	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	2381571	79284696	111869580	21	3830											
ARHGAP24	83478	bcgsc.ca	37	chr4	86491797	86491797	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggaggctttgtcaagActtggcatactcgctggttt	9	12	12	8	1	1	1	1	0	0	1	2	2	1	2	0	4	2	5	0	4	3	4			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr4:86491797A>G	ENST00000395184.1	+	2	569	c.103A>G	c.(103-105)Act>Gct	p.T35A	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.T35A|ARHGAP24_ENST00000506421.1_3'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	35	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CTTTGTCAAGACTTGGCATAC	0.502																																					p.T35A													.	ARHGAP24	116		0			c.A103G												122	102	109					4																	86491797		2203	4300	6503	SO:0001583	missense	83478	exon2			GTCAAGACTTGGC	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.103A>G	4.37:g.86491797A>G	ENSP00000378611:p.Thr35Ala		141	0	0		110	0	0	NM_001025616	2	0	0	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004902	0.74932	.	.	ENSG00000138639	ENST00000395184;ENST00000503995	T;T	0.76839	-1.05;-1.05	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	L	0.43598	1.365	0.80722	D	1	D;B;D	0.69078	0.977;0.317;0.997	P;B;P	0.61800	0.817;0.228;0.894	D	0.83917	0.0299	10	0.59425	D	0.04	.	15.8314	0.78757	1.0:0.0:0.0:0.0	.	35;35;180	Q8N264;Q8N264-4;Q8N264-5	RHG24_HUMAN;.;.	A	35	ENSP00000378611:T35A;ENSP00000423206:T35A	ENSP00000378611:T35A	T	+	1	0	ARHGAP24	86710821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.270000	0.95690	2.217000	0.71921	0.533000	0.62120	ACT			0.502	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252815.2		NM_031305		G	86491797	A	G	86491797	3	3	54	1	0	0	0	0	1	0	0	0	873	275	10	4	105	4	ARHGAP24	4	86491797	Missense_Mutation	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10	7207101	86491797	104662479	22	3831											
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	125592523	125592523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcatctgcacaatccaCttttacgccagcataaagta	14	10	5	12	1	2	0	1	0	1	0	3	0	3	0	2	0	4	4	2	0	5	4			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr4:125592523C>T	ENST00000504087.1	-	4	2946	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	ANKRD50_ENST00000515641.1_Missense_Mutation_p.V458M	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	637										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCACAATCCACTTTTACGCCA	0.458																																					p.V637M													.	.			0			c.G1909A												136	121	126					4																	125592523		2203	4300	6503	SO:0001583	missense	57182	exon4			AATCCACTTTTAC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1909G>A	4.37:g.125592523C>T	ENSP00000425658:p.Val637Met		121	0	0		94	0.55	52	NM_020337	2	0	0	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690012	0.68271	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.69040	-0.37;-0.32	5.21	5.21	0.72293	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	M	0.76170	2.325	0.80722	D	1	D	0.59357	0.985	P	0.61874	0.895	T	0.82701	-0.0327	10	0.72032	D	0.01	.	18.9425	0.92610	0.0:1.0:0.0:0.0	.	637	Q9ULJ7	ANR50_HUMAN	M	637;458	ENSP00000425658:V637M;ENSP00000425355:V458M	ENSP00000425658:V637M	V	-	1	0	ANKRD50	125811973	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.133000	0.77259	2.714000	0.92807	0.585000	0.79938	GTG			0.458	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364775.1		NM_020337		T	125592523	C	T	125592523	3	4	54	1	0	0	0	0	1	0	0	0	677	565	20	3	2384	3	ANKRD50	4	125592523	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	39100726	125592523	65561753	23	3832											
DMXL1	1657	mdanderson.org	37	chr5	118511022	118511022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagtgcctttgtggtagtCataactacaggtaactatct	11	14	8	8	0	3	0	2	0	1	0	3	0	3	0	1	2	4	2	1	2	5	6			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr5:118511022C>T	ENST00000311085.8	+	26	6828	c.6748C>T	c.(6748-6750)Cat>Tat	p.H2250Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.H2250Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2250										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)		TTGTGGTAGTCATAACTACAG	0.294																																					p.H2250Y													.	.			0			c.C6748T												131	126	127					5																	118511022		2202	4296	6498	SO:0001583	missense	1657	exon26			GGTAGTCATAACT	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.6748C>T	5.37:g.118511022C>T	ENSP00000309690:p.His2250Tyr		49	0	0		46	0.07	3	NM_005509	5	0	0		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934173	0.92458	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10099	2.91;2.91	5.96	5.96	0.96718	.	0.086452	0.85682	D	0.000000	T	0.25791	0.0628	M	0.63843	1.955	0.80722	D	1	D;P	0.61080	0.989;0.889	P;B	0.52909	0.713;0.418	T	0.00056	-1.2175	10	0.59425	D	0.04	-9.4749	19.9921	0.97370	0.0:1.0:0.0:0.0	.	2250;2250	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	2250	ENSP00000309690:H2250Y;ENSP00000439479:H2250Y	ENSP00000309690:H2250Y	H	+	1	0	DMXL1	118538921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	2.830000	0.97506	0.655000	0.94253	CAT			0.294	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250862.1		NM_005509		T	118511022	C	T	118511022	3	4	54	1	0	0	0	0	1	0	0	0	4599	826	29	3	6850	3	DMXL1	5	118511022	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10		118511022	62404238	24	3833											
NSD1	64324	bcgsc.ca	37	chr5	176636782	176636782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccatttgaagactgcaCaaatgatcctgagtcagaac	14	10	8	9	0	1	5	1	3	0	2	2	5	2	5	2	0	3	1	2	0	4	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr5:176636782C>G	ENST00000439151.2	+	5	1427	c.1382C>G	c.(1381-1383)aCa>aGa	p.T461R	NSD1_ENST00000361032.4_Missense_Mutation_p.T358R|NSD1_ENST00000354179.4_Missense_Mutation_p.T192R|NSD1_ENST00000347982.4_Missense_Mutation_p.T192R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	461					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)		GAAGACTGCACAAATGATCCT	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.T461R				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1	416		0			c.C1382G												138	127	131					5																	176636782		2203	4300	6503	SO:0001583	missense	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	ACTGCACAAATGA	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.1382C>G	5.37:g.176636782C>G	ENSP00000395929:p.Thr461Arg		199	0	0		115	0	0	NM_022455	9	0	0	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	9.876	1.200289	0.22121	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93426	-3.11;-3.12;-3.11;-3.22	5.5	4.64	0.57946	.	0.404314	0.23922	N	0.043223	D	0.87974	0.6313	N	0.24115	0.695	0.25797	N	0.98455	P;P;P	0.49559	0.925;0.493;0.664	P;B;B	0.45712	0.491;0.277;0.296	T	0.80544	-0.1335	9	.	.	.	.	8.2319	0.31603	0.1549:0.765:0.0:0.08	.	192;358;461	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	192;192;461;192;358	ENSP00000346111:T192R;ENSP00000395929:T461R;ENSP00000343209:T192R;ENSP00000354310:T358R	.	T	+	2	0	NSD1	176569388	0.643000	0.27269	0.985000	0.45067	0.507000	0.33981	1.232000	0.32636	1.333000	0.45449	-0.229000	0.12294	ACA			0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253412.2		NM_172349		G	176636782	C	G	176636782	3	3	54	1	0	0	0	0	1	0	0	0	10686	478	17	5	1396	5	NSD1	5	176636782	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	58125760	176636782	4278478	25	3834											
DEK	7913	mdanderson.org	37	chr6	18264096	18264096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctcctcctcctcctcCtcgtcgtcctcgtcctcttc	0	17	3	21	3	1	0	0	0	1	0	13	0	9	0	8	0	0	0	8	0	0	3	rs147127829	byFrequency	TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr6:18264096C>G	ENST00000397239.3	-	2	570	c.123G>C	c.(121-123)gaG>gaC	p.E41D	DEK_ENST00000244776.7_Missense_Mutation_p.E41D	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	41	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			cctcctcctcctcgtcgtcct	0.562			T	NUP214	AML								C|||	10	0.00199681	0.0068	0	5008	,	,		14423	0		0	False		,,,				2504	0.001				p.E41D				Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	.	.			0			c.G123C							-	ASP/GLU,ASP/GLU	8,4398	14.3+/-33.2	0,8,2195	43	47	45		123,123	-3.7	0.1	6	dbSNP_134	45	0,8600		0,0,4300	yes	missense,missense	DEK	NM_001134709.1,NM_003472.3	45,45	0,8,6495	GG,GC,CC		0.0,0.1816,0.0615	benign,benign	41/342,41/376	18264096	8,12998	2203	4300	6503	SO:0001583	missense	7913	exon2			CTCCTCCTCGTCG	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.123G>C	6.37:g.18264096C>G	ENSP00000380414:p.Glu41Asp		132	0	0		128	0.04	5	NM_003472	18	0	0	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.267	0.417416	0.11870	0.001816	0.0	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000515742	T;T;T	0.51817	0.76;0.85;0.69	4.57	-3.65	0.04502	.	0.440668	0.20131	N	0.098587	T	0.09598	0.0236	L	0.48642	1.525	0.22880	N	0.998611	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38585	-0.9654	10	0.12766	T	0.61	-5.206	1.3254	0.02124	0.2162:0.3697:0.1081:0.306	.	41;41	B4DN37;P35659	.;DEK_HUMAN	D	41;41;46	ENSP00000380414:E41D;ENSP00000244776:E41D;ENSP00000423553:E46D	ENSP00000244776:E41D	E	-	3	2	DEK	18372075	0.003000	0.15002	0.050000	0.19076	0.529000	0.34654	-2.192000	0.01245	-1.460000	0.01911	-2.294000	0.00264	GAG	0.001		0.562	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039962.4				G	18264096	C	G	18264096	3	3	54	1	0	0	0	0	1	0	0	0	4429	680	24	5	1044	5	DEK	6	18264096	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10		18264096	152850971	26	3835											
KCTD20	222658	broad.mit.edu	37	chr6	36454762	36454762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccagatgtcatgggaaaAggaagaagggaagagtcgcc	15	5	14	7	1	1	3	1	0	0	3	3	6	2	6	2	3	0	0	2	3	5	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr6:36454762A>G	ENST00000373731.2	+	8	1461	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	KCTD20_ENST00000536244.1_Missense_Mutation_p.K212R|KCTD20_ENST00000544295.1_Missense_Mutation_p.K111R|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000449081.2_Missense_Mutation_p.K191R	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	357					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TCATGGGAAAAGGAAGAAGGG	0.478																																					p.K357R													.	KCTD20	37		0			c.A1070G												115	117	116					6																	36454762		2203	4300	6503	SO:0001583	missense	222658	exon8			GGGAAAAGGAAGA	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.1070A>G	6.37:g.36454762A>G	ENSP00000362836:p.Lys357Arg		145	0.0068965517	1		144	0.03	4	NM_173562	16	0	0	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	A	35	5.466013	0.96257	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.66297	2.02	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.91371	0.5119	10	0.87932	D	0	-27.0254	16.5582	0.84512	1.0:0.0:0.0:0.0	.	191;357	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	R	357;111;191;212	ENSP00000362836:K357R;ENSP00000440150:K111R;ENSP00000412205:K191R;ENSP00000439118:K212R	ENSP00000362836:K357R	K	+	2	0	KCTD20	36562740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	AAG			0.478	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040345.2		NM_173562		G	36454762	A	G	36454762	3	3	54	1	0	0	0	0	1	0	0	0	8123	72	3	4	1096	4	KCTD20	6	36454762	Missense_Mutation	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10	18190666	36454762	134660305	27	3836											
RNF8	9025	bcgsc.ca	37	chr6	37358600	37358600	+	3'UTR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatggtctggaggatTctctctagccgtgactccgc	6	11	12	12	2	3	2	0	2	3	1	5	5	4	4	3	3	1	0	3	3	1	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr6:37358600T>A	ENST00000373479.4	+	0	1717				RNF8_ENST00000469731.1_Missense_Mutation_p.F440Y	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TCTGGAGGATTCTCTCTAGCC	0.507																																					p.F440Y													.	RNF8	78		0			c.T1319A												111	98	103					6																	37358600		2203	4300	6503	SO:0001624	3_prime_UTR_variant	9025	exon7			GAGGATTCTCTCT	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.*66T>A	6.37:g.37358600T>A			88	0	0		65	0	0	NM_183078	137	0	0	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.537226	0.45176	.	.	ENSG00000112130	ENST00000469731	T	0.47528	0.84	3.84	3.84	0.44239	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.29032	N	0.885653	.	.	.	.	.	.	T	0.26643	-1.0097	6	0.87932	D	0	.	9.3102	0.37900	0.0:0.0:0.0:1.0	.	.	.	.	Y	440	ENSP00000418879:F440Y	ENSP00000418879:F440Y	F	+	2	0	RNF8	37466578	0.004000	0.15560	0.004000	0.12327	0.094000	0.18550	1.063000	0.30567	1.969000	0.57287	0.533000	0.62120	TTC			0.507	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040403.2				A	37358600	T	A	37358600	1	1	54	0	1	0	0	0	0	0	0	0	13523	1783	62	5		5	RNF8	6	37358600	3'UTR	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10	903838	37358600	133756467	28	3837											
C6orf153	88745	mdanderson.org	37	chr6	42993067	42993067	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcccattagtaaaaaGgtaaggaagaaggccaggca	15	8	12	6	0	0	1	0	0	0	1	1	2	1	2	2	4	0	5	2	4	7	5			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr6:42993067G>T	ENST00000244496.5	+	3	355	c.345G>T	c.(343-345)aaG>aaT	p.K115N		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	115					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TTAGTAAAAAGGTAAGGAAGA	0.502																																					p.K115N													.	.			0			c.G345T												77	75	76					6																	42993067		2203	4300	6503	SO:0001630	splice_region_variant	88745	exon3			TAAAAAGGTAAGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.345+1G>T	6.37:g.42993067G>T			71	0	0		62	0.05	3	NM_033112	85	0	0	Q9BRF6|Q9P0C8	Missense_Mutation	SNP	ENST00000244496.5	37	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068302	0.76301	.	.	ENSG00000124541	ENST00000244496	T	0.49720	0.77	4.7	4.7	0.59300	.	0.498959	0.20406	N	0.092954	T	0.59101	0.2169	M	0.74467	2.265	0.58432	D	0.999998	D	0.71674	0.998	D	0.68483	0.958	T	0.54397	-0.8300	10	0.29301	T	0.29	.	15.9421	0.79763	0.0:0.0:1.0:0.0	.	115	Q96EU6	RRP36_HUMAN	N	115	ENSP00000244496:K115N	ENSP00000244496:K115N	K	+	3	2	RRP36	43101045	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.583000	0.53928	2.621000	0.88768	0.561000	0.74099	AAG			0.502	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040572.1		NM_033112	Missense_Mutation	T	42993067	G	T	42993067	5	4	54	1	0	0	0	0	0	0	1	0	2340	1014	35	3	355	3	C6orf153	6	42993067	Splice_Site	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	5634467	42993067	128122000	29	3838											
CUL9	23113	mdanderson.org	37	chr6	43154177	43154177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttccggcagagcaacaacgGcattccccctgtgcaggtgg	8	7	13	13	2	0	1	0	0	0	1	2	1	2	1	3	4	4	5	3	4	2	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr6:43154177G>A	ENST00000252050.4	+	4	1319	c.1235G>A	c.(1234-1236)gGc>gAc	p.G412D	CUL9_ENST00000372647.2_Missense_Mutation_p.G412D|CUL9_ENST00000354495.3_Missense_Mutation_p.G412D	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	412					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						AGCAACAACGGCATTCCCCCT	0.582																																					p.G412D													CUL9,NS,carcinoma,-1,1	CUL9	-1	1	0			c.G1235A												57	48	51					6																	43154177		2203	4300	6503	SO:0001583	missense	23113	exon4			ACAACGGCATTCC	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.1235G>A	6.37:g.43154177G>A	ENSP00000252050:p.Gly412Asp		46	0	0		72	0.06	4	NM_015089	1	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987917	0.35036	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.76448	-1.02;-0.99;-0.92	5.5	5.5	0.81552	CPH domain (1);Translation protein SH3-like, subgroup (1);	0.216150	0.47455	D	0.000237	D	0.85940	0.5814	M	0.83012	2.62	0.36462	D	0.866758	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.946;0.946;0.993	D	0.88479	0.3067	10	0.87932	D	0	-24.3826	13.1283	0.59368	0.0832:0.0:0.9168:0.0	.	412;412;412	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	D	412	ENSP00000252050:G412D;ENSP00000346490:G412D;ENSP00000361730:G412D	ENSP00000252050:G412D	G	+	2	0	CUL9	43262155	1.000000	0.71417	0.996000	0.52242	0.248000	0.25809	6.307000	0.72815	2.587000	0.87381	0.467000	0.42956	GGC			0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040582.2		NM_015089		A	43154177	G	A	43154177	3	1	54	1	0	0	0	0	1	0	0	0	4063	1203	42	2	1245	2	CUL9	6	43154177	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	161110	43154177	127960890	30	3839											
CUL9	23113	mdanderson.org	37	chr6	43183047	43183047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttctgtggcagccagagCgaaacctccaagcccaggta	10	7	10	14	1	1	1	0	0	1	1	2	2	2	1	5	2	4	2	5	2	3	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr6:43183047C>T	ENST00000252050.4	+	30	6003	c.5919C>T	c.(5917-5919)agC>agT	p.S1973S	CUL9_ENST00000372647.2_Silent_p.S1945S|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.S1863S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1973					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						GCAGCCAGAGCGAAACCTCCA	0.617																																					p.S1973S													.	.			0			c.C5919T												40	40	40					6																	43183047		2202	4300	6502	SO:0001819	synonymous_variant	23113	exon30			CCAGAGCGAAACC	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.5919C>T	6.37:g.43183047C>T			24	0	0		20	0.1	2	NM_015089	15	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																					0.617	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040582.2		NM_015089		T	43183047	C	T	43183047	2	4	54	1	0	0	0	0	0	0	0	1	4063	767	27	1		1	CUL9	6	43183047	Silent	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	28870	43183047	127932020	31	3840											
CASD1	64921	broad.mit.edu	37	chr7	94147626	94147626	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatccccaattcaaagaagaAggaaataaggtaaaacttgt	20	8	7	6	0	1	2	1	0	0	2	2	3	2	3	2	2	1	1	2	2	9	4			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr7:94147626A>G	ENST00000297273.4	+	3	629	c.342A>G	c.(340-342)gaA>gaG	p.E114E		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	114						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)			TCAAAGAAGAAGGAAATAAGG	0.333																																					p.E114E													.	CASD1	70		0			c.A342G												90	102	98					7																	94147626		2201	4292	6493	SO:0001819	synonymous_variant	64921	exon3			AGAAGAAGGAAAT	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.342A>G	7.37:g.94147626A>G			138	0	0		176	0.02	4	NM_022900	4	0	0	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Silent	SNP	ENST00000297273.4	37	CCDS5636.1																																																																																					0.333	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255216.1		NM_022900		G	94147626	A	G	94147626	2	3	54	1	0	0	0	0	0	0	0	1	2666	69	3	4		4	CASD1	7	94147626	Silent	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10		94147626	64991037	32	3841											
MUC17	140453	mdanderson.org	37	chr7	100681533	100681533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcttagtgaaggaacgaCtccattaacaagtatacctg	15	10	7	9	1	1	1	0	1	1	0	2	3	2	2	2	1	4	1	2	1	8	4			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr7:100681533C>A	ENST00000306151.4	+	3	6900	c.6836C>A	c.(6835-6837)aCt>aAt	p.T2279N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2279	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)					GAAGGAACGACTCCATTAACA	0.478																																					p.T2279N													.	.			0			c.C6836A																																									SO:0001583	missense	140453	exon3			GAACGACTCCATT	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.6836C>A	7.37:g.100681533C>A	ENSP00000302716:p.Thr2279Asn		86	0	0		124	0.06	8	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.491	-0.317530	0.05386	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	0.762	0.762	0.18454	.	.	.	.	.	T	0.03390	0.0098	N	0.19112	0.55	0.09310	N	1	P	0.51933	0.949	P	0.51297	0.665	T	0.49679	-0.8914	9	0.35671	T	0.21	.	6.9517	0.24548	0.0:0.9999:0.0:1.0E-4	.	2279	Q685J3	MUC17_HUMAN	N	2279	ENSP00000302716:T2279N	ENSP00000302716:T2279N	T	+	2	0	MUC17	100468253	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.068000	0.14531	0.132000	0.18615	0.134000	0.15878	ACT			0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		A	100681533	C	A	100681533	3	1	54	1	0	0	0	0	1	0	0	0	9990	565	20	3	6846	3	MUC17	7	100681533	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	6533907	100681533	58457130	33	3842											
COG5	10466	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	106888937	106888937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcattttccataagagcaTgaatagcctaaaaaaaaaaa	21	8	5	7	0	0	2	0	1	0	1	1	2	1	2	2	0	3	2	2	0	9	5			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr7:106888937T>C	ENST00000347053.3	-	16	1837	c.1787A>G	c.(1786-1788)cAt>cGt	p.H596R	COG5_ENST00000297135.3_Missense_Mutation_p.H617R|COG5_ENST00000393603.2_Missense_Mutation_p.H617R	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	596					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						CATAAGAGCATGAATAGCCTa	0.363																																					p.H617R													.	COG5	78		0			c.A1850G												89	86	87					7																	106888937		2203	4300	6503	SO:0001583	missense	0	exon17			AGAGCATGAATAG	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.1787A>G	7.37:g.106888937T>C	ENSP00000334703:p.His596Arg		64	0	0		63	0.14	9	NM_006348	27	0.15	4	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	T	8.673	0.903297	0.17760	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.55234	0.53;0.53;0.53	5.83	4.7	0.59300	.	0.274240	0.43579	D	0.000556	T	0.29355	0.0731	N	0.15975	0.35	0.21967	N	0.99945	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10405	-1.0631	10	0.16420	T	0.52	-7.0683	6.3588	0.21417	0.1411:0.0742:0.0:0.7847	.	596;617	Q9UP83;Q9UP83-2	COG5_HUMAN;.	R	596;617;617	ENSP00000334703:H596R;ENSP00000297135:H617R;ENSP00000377228:H617R	ENSP00000297135:H617R	H	-	2	0	COG5	106676173	0.999000	0.42202	0.019000	0.16419	0.194000	0.23727	3.156000	0.50708	2.231000	0.72958	0.460000	0.39030	CAT			0.363	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000060216.4				C	106888937	T	C	106888937	3	2	54	1	0	0	0	0	1	0	0	0	3663	1464	51	4	760	4	COG5	7	106888937	Missense_Mutation	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10	6207404	106888937	52249726	34	3843											
TRPV6	55503	mdanderson.org	37	chr7	142573303	142573303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgagggggcggtagatgCagcacatggtgaagcagatg	10	7	18	6	1	0	4	0	2	0	2	0	4	0	4	0	4	3	5	0	4	2	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr7:142573303C>T	ENST00000359396.3	-	8	1285	c.1040G>A	c.(1039-1041)tGc>tAc	p.C347Y	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	347					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCGGTAGATGCAGCACATGGT	0.572																																					p.C347Y													.	.			0			c.G1040A												137	136	136					7																	142573303		2203	4300	6503	SO:0001583	missense	55503	exon8			TAGATGCAGCACA	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1040G>A	7.37:g.142573303C>T	ENSP00000352358:p.Cys347Tyr		35	0	0		18	0.11	2	NM_018646	0		0	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251866	0.80135	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.85955	-2.05	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.93294	0.7863	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.93070	0.6482	10	0.36615	T	0.2	-20.6288	16.8604	0.86016	0.0:1.0:0.0:0.0	.	347	Q9H1D0	TRPV6_HUMAN	Y	347;179	ENSP00000352358:C347Y	ENSP00000310825:C179Y	C	-	2	0	TRPV6	142283425	1.000000	0.71417	0.984000	0.44739	0.810000	0.45777	7.299000	0.78831	2.458000	0.83093	0.655000	0.94253	TGC			0.572	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347662.1		NM_014274		T	142573303	C	T	142573303	3	4	54	1	0	0	0	0	1	0	0	0	16624	710	25	2	1169	2	TRPV6	7	142573303	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	35684366	142573303	16565360	35	3844											
PCMTD1	115294	bcgsc.ca	37	chr8	52733143	52733143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtgttaattctctgtttaActctctttcttttccttttg	6	23	4	8	0	3	0	0	0	3	0	6	0	4	0	1	0	1	2	1	0	3	9	rs111785933		TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr8:52733143A>G	ENST00000360540.5	-	7	1248	c.842T>C	c.(841-843)gTt>gCt	p.V281A	PCMTD1_ENST00000522514.1_Missense_Mutation_p.V281A|PCMTD1_ENST00000544451.1_Missense_Mutation_p.V205A|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	281						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTCTGTTTAACTCTCTTTCT	0.393																																					p.V281A													.	PCMTD1	73		0			c.T842C												172	174	174					8																	52733143		2203	4300	6503	SO:0001583	missense	115294	exon6			TGTTTAACTCTCT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.842T>C	8.37:g.52733143A>G	ENSP00000353739:p.Val281Ala		176	0.0227272727	4		186	0.07	13	NM_052937	43	0	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	4.043	0.005592	0.07866	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46063	0.88;0.88;0.88	5.97	4.75	0.60458	.	0.260164	0.36972	N	0.002316	T	0.32556	0.0833	L	0.42245	1.32	0.29355	N	0.865105	B;B;B	0.18863	0.009;0.008;0.031	B;B;B	0.18263	0.015;0.005;0.021	T	0.15780	-1.0425	10	0.15066	T	0.55	-33.7683	11.4736	0.50284	0.6809:0.3191:0.0:0.0	.	151;205;281	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	A	281;205;281	ENSP00000353739:V281A;ENSP00000444026:V205A;ENSP00000428099:V281A	ENSP00000353739:V281A	V	-	2	0	PCMTD1	52895696	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.794000	0.69067	2.281000	0.76405	0.533000	0.62120	GTT			0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377909.2		NM_052937		G	52733143	A	G	52733143	3	3	54	1	0	0	0	0	1	0	0	0	11603	43	2	4	235	4	PCMTD1	8	52733143	Missense_Mutation	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10		52733143	93630879	36	3845											
PRUNE2	158471	mdanderson.org	37	chr9	79259771	79259771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcccgttcctcttcggccGtatattctggaatagactct	6	14	7	14	3	3	1	0	0	3	1	6	2	5	2	4	2	0	2	4	2	4	6	rs559948086		TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr9:79259771G>A	ENST00000376718.3	-	12	8735	c.8612C>T	c.(8611-8613)aCg>aTg	p.T2871M	PRUNE2_ENST00000443509.2_Missense_Mutation_p.T120M|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Missense_Mutation_p.T136M|PRUNE2_ENST00000428286.1_Missense_Mutation_p.T2513M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2871					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						CTCTTCGGCCGTATATTCTGG	0.517													G|||	1	0.000199681	0	0	5008	,	,		19040	0		0	False		,,,				2504	0.001				p.T2871M													.	.			0			c.C8612T												129	109	115					9																	79259771		1568	3582	5150	SO:0001583	missense	158471	exon12			TCGGCCGTATATT	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.8612C>T	9.37:g.79259771G>A	ENSP00000365908:p.Thr2871Met		114	0.0087719298	1		126	0.04	5	NM_015225	15	0	0	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620650	0.66787	.	.	ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033	T;T;T;T;T;T	0.57273	0.79;0.69;0.7;0.8;0.41;0.81	6.06	6.06	0.98353	.	0.087072	0.85682	D	0.000000	T	0.65069	0.2656	L	0.33753	1.03	0.47547	D	0.99945	D;D;D;P;D	0.89917	0.999;0.997;0.996;0.56;1.0	D;P;P;B;D	0.68621	0.932;0.888;0.828;0.216;0.959	T	0.63510	-0.6621	10	0.54805	T	0.06	-15.5598	20.6243	0.99512	0.0:0.0:1.0:0.0	.	136;135;120;2872;2871	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3	.;.;.;.;PRUN2_HUMAN	M	136;2871;2513;89;120;41;136;2871	ENSP00000365907:T136M;ENSP00000365908:T2871M;ENSP00000397425:T2513M;ENSP00000393843:T120M;ENSP00000393657:T41M;ENSP00000223609:T136M	ENSP00000223609:T136M	T	-	2	0	PRUNE2	78449591	0.998000	0.40836	0.908000	0.35775	0.646000	0.38490	4.004000	0.57068	2.879000	0.98667	0.650000	0.86243	ACG			0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052730.2		NM_138818		A	79259771	G	A	79259771	3	1	54	1	0	0	0	0	1	0	0	0	12661	1145	40	1	686	1	PRUNE2	9	79259771	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10		79259771	61953660	37	3846											
PTGR1	22949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr9	114356535	114356535	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtgaggaacaaagctTcaagcaggacctctacaaaa	16	5	9	11	1	2	1	1	1	1	0	2	3	2	3	2	3	4	2	2	3	6	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr9:114356535T>G	ENST00000407693.2	-	3	381	c.119A>C	c.(118-120)gAa>gCa	p.E40A	PTGR1_ENST00000238248.3_5'UTR|PTGR1_ENST00000309195.5_Missense_Mutation_p.E40A|PTGR1_ENST00000538962.1_Missense_Mutation_p.E40A	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	40					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						GAACAAAGCTTCAAGCAGGAC	0.428																																					p.E40A	Ovarian(200;132 2151 7551 19220 46064)												.	.			0			c.A119C												103	91	95					9																	114356535		2203	4300	6503	SO:0001583	missense	22949	exon3			AAAGCTTCAAGCA	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.119A>C	9.37:g.114356535T>G	ENSP00000385763:p.Glu40Ala		132	0	0		111	0.5	55	NM_001146108	85	0.33	28	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220917	0.39201	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000333580;ENST00000422125;ENST00000374313;ENST00000374308	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.56	4.56	0.56223	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.77820	2.39	0.80722	D	1	D;D;P	0.71674	0.998;0.997;0.627	D;D;B	0.68353	0.957;0.927;0.211	T	0.72450	-0.4290	10	0.72032	D	0.01	0.2091	13.5711	0.61847	0.0:0.0:0.0:1.0	.	40;40;40	F5GY50;B4DPK3;Q14914	.;.;PTGR1_HUMAN	A	40	ENSP00000440281:E40A;ENSP00000311572:E40A;ENSP00000385763:E40A;ENSP00000395965:E40A	ENSP00000311572:E40A	E	-	2	0	PTGR1	113396356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.672000	0.61597	1.995000	0.58328	0.460000	0.39030	GAA			0.428	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053647.2				G	114356535	T	G	114356535	3	3	54	1	0	0	0	0	1	0	0	0	12774	1783	62	4	933	4	PTGR1	9	114356535	Missense_Mutation	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10	35096764	114356535	26856896	38	3847											
SLC2A6	11182	mdanderson.org	37	chr9	136340191	136340191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggccacggtgatgggccgGcacacgtgtggggcccgtgc	6	5	18	12	4	0	1	0	1	0	0	0	1	0	1	3	6	1	1	3	6	1	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr9:136340191G>A	ENST00000371899.4	-	6	896	c.819C>T	c.(817-819)tgC>tgT	p.C273C	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.C273C	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	273					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGATGGGCCGGCACACGTGTG	0.667																																					p.C273C													.	.			0			c.C819T												23	18	20					9																	136340191		2189	4296	6485	SO:0001819	synonymous_variant	11182	exon6			GGGCCGGCACACG	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.819C>T	9.37:g.136340191G>A			45	0	0		41	0.07	3	NM_001145099	6	0	0	A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	CCDS6975.1																																																																																					0.667	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054909.1		NM_017585		A	136340191	G	A	136340191	2	1	54	1	0	0	0	0	0	0	0	1	14572	1195	42	2		2	SLC2A6	9	136340191	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	21983656	136340191	4873240	39	3848											
EXOSC1	51013	mdanderson.org	37	chr10	99196205	99196205	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtaaaaagtggcttcttaGgtctgcaagaattcgggttg	10	12	14	5	1	2	1	0	0	2	1	3	1	2	1	0	4	1	4	0	4	6	5			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr10:99196205G>T	ENST00000370902.3	-	8	616	c.585C>A	c.(583-585)acC>acA	p.T195T	EXOSC1_ENST00000370885.4_Silent_p.T170T|EXOSC1_ENST00000471049.1_5'Flank|EXOSC1_ENST00000485122.2_3'UTR|EXOSC1_ENST00000370886.5_Silent_p.T178T	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	195					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)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		TGGCTTCTTAGGTCTGCAAGA	0.493																																					p.T195T													.	.			0			c.C585A												112	113	113					10																	99196205		2203	4300	6503	SO:0001819	synonymous_variant	51013	exon8			TTCTTAGGTCTGC	AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"CSL4 exosomal core protein homolog (yeast)"	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.585C>A	10.37:g.99196205G>T			79	0	0		75	0.07	5	NM_016046	170	0	0	B2R9B3|Q5JTH3	Silent	SNP	ENST00000370902.3	37	CCDS7459.1																																																																																					0.493	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049680.1				T	99196205	G	T	99196205	2	4	54	1	0	0	0	0	0	0	0	1	5320	987	35	3		3	EXOSC1	10	99196205	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10		99196205	36338542	40	3849											
LZTS2	84445	broad.mit.edu	37	chr10	102766682	102766682	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggagcggcggcggggTgaggagcagcgggacagctt	7	3	22	9	5	0	1	0	1	0	0	0	4	0	4	0	7	5	2	0	7	0	1			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr10:102766682T>G	ENST00000370220.1	+	4	4830	c.1767T>G	c.(1765-1767)ggT>ggG	p.G589G	LZTS2_ENST00000370223.3_Silent_p.G589G					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGCGGCGGGGTGAGGAGCAGC	0.682																																					p.G589G	Esophageal Squamous(8;38 437 13604 19902 37640)												.	LZTS2	57		0			c.T1767G												21	13	16					10																	102766682		2080	4135	6215	SO:0001819	synonymous_variant	84445	exon5			GCGGGGTGAGGAG	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1767T>G	10.37:g.102766682T>G			83	0.1084337349	9		58	0.16	9	NM_032429	30	0.03	1		Silent	SNP	ENST00000370220.1	37	CCDS7507.1																																																																																					0.682	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049872.1		XM_046743		G	102766682	T	G	102766682	2	3	54	1	0	0	0	0	0	0	0	1	9155	1683	59	4		4	LZTS2	10	102766682	Silent	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10	3570477	102766682	32768065	41	3850											
COL17A1	1308	mdanderson.org	37	chr10	105810657	105810657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcccttggagacctacagGacctgcccggcagaagaaac	12	4	12	13	1	0	3	0	0	0	3	0	6	0	4	4	3	4	1	4	3	3	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr10:105810657G>T	ENST00000353479.5	-	26	2331	c.2041C>A	c.(2041-2043)Cct>Act	p.P681T	COL17A1_ENST00000369733.3_Missense_Mutation_p.P681T|MIR936_ENST00000401264.1_RNA	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	681	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGACCTACAGGACCTGCCCGG	0.532																																					p.P681T													.	.			0			c.C2041A												94	83	87					10																	105810657		2203	4300	6503	SO:0001583	missense	1308	exon26			CTACAGGACCTGC	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2041C>A	10.37:g.105810657G>T	ENSP00000340937:p.Pro681Thr		62	0	0		35	0.09	3	NM_000494	10	0	0	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899487	0.33535	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.96651	-4.08;-4.08	4.95	-9.89	0.00464	.	1.154430	0.06607	N	0.754895	D	0.92047	0.7480	L	0.55481	1.735	0.19300	N	0.999973	B	0.24823	0.112	B	0.22386	0.039	T	0.78196	-0.2298	10	0.17369	T	0.5	0.9497	11.2088	0.48786	0.1121:0.4517:0.4362:0.0	.	681	Q9UMD9	COHA1_HUMAN	T	681	ENSP00000340937:P681T;ENSP00000358748:P681T	ENSP00000340937:P681T	P	-	1	0	COL17A1	105800647	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-1.308000	0.02730	-1.884000	0.01119	-0.302000	0.09304	CCT			0.532	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050181.1		NM_130778, NM_000494		T	105810657	G	T	105810657	3	4	54	1	0	0	0	0	1	0	0	0	3676	1174	41	3	2576	3	COL17A1	10	105810657	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	3043975	105810657	29724090	42	3851											
KCNA4	3739	hgsc.bcm.edu;broad.mit.edu	37	chr11	30032345	30032347	+	In_Frame_Del	DEL	CTC	CTC	-																															tccccctttccctgacacttCtcctcctttgcacacagaga																										TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	CTC	CTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr11:30032345_30032347delCTC	ENST00000328224.6	-	2	3112_3114	c.1879_1881delGAG	c.(1879-1881)gagdel	p.E627del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	627					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)	CCTGACACTTCTCCTCCTTTGCA	0.458																																					p.627_628del													.	KCNA4	158		0			c.1880_1882del																																									SO:0001651	inframe_deletion	3739	exon2			ACACTTCTCCTCC	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.1879_1881delGAG	11.37:g.30032348_30032350delCTC	ENSP00000328511:p.Glu627del		169	0	0		88	0.48	42	NM_002233	0		0		In_Frame_Del	DEL	ENST00000328224.6	37	CCDS41629.1																																																																																					0.458	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388074.2		NM_002233		-	30032347	CTC	-	30032345	7	5	54	1	0	1	0	1	0	0	0	0	8020	912	32	0	84	0	KCNA4	11	30032345	In_Frame_Del	DEL	CTC	TCGA-2G-AAHP-01A-12D-A42Y-10		30032345	104974171	43	3852											
FOLH1	2346	bcgsc.ca	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				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)	GCCTATAAGCATATTCTGAAA	0.343																																					p.Y277Y													.	FOLH1	141		0			c.T831C												61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346	exon7			ATAAGCATATTCT	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.831T>C	11.37:g.49204790A>G			191	0.0104712042	2		134	0.02	3	NM_004476	0		0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																					0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390896.1		NM_004476		G	49204790	A	G	49204790	2	3	54	1	0	0	0	0	0	0	0	1	5992	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10	19172445	49204790	85801726	44	3853											
FEN1	746	mdanderson.org	37	chr11	61563052	61563052	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttctaccgcaccattcgCatgatggagaacggcatcaa	12	9	9	11	3	2	2	1	1	1	1	3	3	2	2	2	2	2	4	2	2	3	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr11:61563052C>T	ENST00000537328.1	-	0	0				FEN1_ENST00000305885.2_Silent_p.R73R|FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											GCACCATTCGCATGATGGAGA	0.587																																					p.R73R													.	.			0			c.C219T												82	74	76					11																	61563052		2202	4299	6501	SO:0001631	upstream_gene_variant	2237	exon2			CATTCGCATGATG		CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 10"	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61563052C>T	Exception_encountered		32	0	0		41	0.07	3	NM_004111	108	0	0	A8K6L8|Q9D953|Q9Y2Q7	Silent	SNP	ENST00000537328.1	37	CCDS8009.1																																																																																					0.587	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398577.1		NM_014206		T	61563052	C	T	61563052	1	4	54	0	1	0	0	0	0	0	0	0	5825	697	25	2		2	FEN1	11	61563052	5'Flank	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	12358262	61563052	73443464	45	3854											
ZBTB3	79842	mdanderson.org	37	chr11	62520426	62520426	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgaaactgctgagatGccagaagagaagtagtttgt	14	10	11	6	0	0	4	0	2	0	3	1	6	1	4	2	0	3	3	2	0	5	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr11:62520426G>T	ENST00000394807.3	-	2	986	c.861C>A	c.(859-861)ggC>ggA	p.G287G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	287	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						CTGCTGAGATGCCAGAAGAGA	0.542																																					p.G287G													.	.			0			c.C861A												63	58	60					11																	62520426		2202	4299	6501	SO:0001819	synonymous_variant	79842	exon2			TGAGATGCCAGAA	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.861C>A	11.37:g.62520426G>T			91	0	0		51	0.06	3	NM_024784	7	0	0		Silent	SNP	ENST00000394807.3	37	CCDS8034.1																																																																																					0.542	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395342.1		NM_024784		T	62520426	G	T	62520426	2	4	54	1	0	0	0	0	0	0	0	1	17557	1306	46	2		2	ZBTB3	11	62520426	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	957374	62520426	72486090	46	3855											
ANKRD13D	338692	mdanderson.org	37	chr11	67058987	67058987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagtgggagttcaccaGctggggtgagtggggacctc	8	8	18	7	0	1	2	1	2	0	0	2	5	1	4	2	5	1	2	2	5	1	1			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr11:67058987G>T	ENST00000447274.2	+	4	1306	c.131G>T	c.(130-132)aGc>aTc	p.S44I	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.S131I|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.S44I|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.S44I			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	44						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)			GAGTTCACCAGCTGGGGTGAG	0.622																																					p.S131I													.	.			0			c.G392T												64	69	67					11																	67058987		2200	4295	6495	SO:0001583	missense	338692	exon4			TCACCAGCTGGGG	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.131G>T	11.37:g.67058987G>T	ENSP00000402616:p.Ser44Ile		47	0	0		42	0.07	3	NM_207354	45	0	0	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37		.	.	.	.	.	.	.	.	.	.	G	24.7	4.558018	0.86231	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.60672	0.17;0.43;0.17;0.17	4.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.74348	0.983;0.983	D	0.83365	0.0004	10	0.87932	D	0	-27.2285	13.1322	0.59389	0.0:0.0:0.8393:0.1606	.	131;44	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	I	44;131;44;44	ENSP00000402616:S44I;ENSP00000427130:S131I;ENSP00000310874:S44I;ENSP00000444404:S44I	ENSP00000310874:S44I	S	+	2	0	ANKRD13D	66815563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.602000	0.98312	2.226000	0.72624	0.561000	0.74099	AGC			0.622	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000371067.2		NM_207354		T	67058987	G	T	67058987	3	4	54	1	0	0	0	0	1	0	0	0	644	971	34	2	406	2	ANKRD13D	11	67058987	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	4538561	67058987	67947529	47	3856											
CNTN5	53942	bcgsc.ca	37	chr11	99944948	99944948	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagaccaagaagttgtcaTagagtgcaaaccccaaggct	16	6	9	10	0	1	3	1	0	0	3	1	3	1	3	3	1	2	3	3	1	6	2	rs200782641	byFrequency	TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr11:99944948T>C	ENST00000524871.1	+	13	1792	c.1502T>C	c.(1501-1503)aTa>aCa	p.I501T	CNTN5_ENST00000418526.2_Missense_Mutation_p.I427T|CNTN5_ENST00000528682.1_Missense_Mutation_p.I501T|CNTN5_ENST00000279463.3_Missense_Mutation_p.I501T|CNTN5_ENST00000527185.1_Missense_Mutation_p.I501T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	501	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAGTTGTCATAGAGTGCAAA	0.358													T|||	3	0.000599042	0.0023	0	5008	,	,		17463	0		0	False		,,,				2504	0				p.I501T													.	CNTN5	324		0			c.T1502C							T	THR/ILE,THR/ILE	1,3683		0,1,1841	63	63	63		1502,1280	5.5	1	11		63	0,8168		0,0,4084	no	missense,missense	CNTN5	NM_014361.3,NM_175566.2	89,89	0,1,5925	CC,CT,TT		0.0,0.0271,0.0084	possibly-damaging,possibly-damaging	501/1101,427/1027	99944948	1,11851	1842	4084	5926	SO:0001583	missense	53942	exon12			TTGTCATAGAGTG	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1502T>C	11.37:g.99944948T>C	ENSP00000435637:p.Ile501Thr		503	0	0		178	0	0	NM_001243270	0		0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927043	0.73327	2.71E-4	0.0	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.224852	0.46145	D	0.000306	T	0.77857	0.4193	M	0.91300	3.195	0.48236	D	0.999614	P;P;P	0.38863	0.65;0.454;0.65	B;B;B	0.43155	0.41;0.234;0.41	T	0.82798	-0.0279	10	0.87932	D	0	.	14.8585	0.70359	0.0:0.0:0.0:1.0	.	501;427;501	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	T	501;501;501;427;501	ENSP00000433575:I501T;ENSP00000436185:I501T;ENSP00000435637:I501T;ENSP00000393229:I427T;ENSP00000279463:I501T	ENSP00000279463:I501T	I	+	2	0	CNTN5	99450158	1.000000	0.71417	0.959000	0.39883	0.920000	0.55202	7.662000	0.83803	2.095000	0.63458	0.456000	0.33151	ATA			0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395148.2		NM_014361		C	99944948	T	C	99944948	3	2	54	1	0	0	0	0	1	0	0	0	3646	1406	49	4	1544	4	CNTN5	11	99944948	Missense_Mutation	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10	32885961	99944948	35061568	48	3857											
NNMT	4837	mdanderson.org	37	chr11	114168839	114168839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagccagaggcctttgactgGtccccagtggtgacctatgt	7	10	13	11	0	0	3	0	2	0	1	1	4	1	3	5	3	1	0	5	3	1	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr11:114168839G>T	ENST00000535401.1	+	4	585	c.321G>T	c.(319-321)tgG>tgT	p.W107C	NNMT_ENST00000545255.1_5'Flank|NNMT_ENST00000299964.3_Missense_Mutation_p.W107C|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	107					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCTTTGACTGGTCCCCAGTGG	0.493																																					p.W107C													.	.			0			c.G321T												119	123	122					11																	114168839		2201	4296	6497	SO:0001583	missense	4837	exon2			TGACTGGTCCCCA	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.321G>T	11.37:g.114168839G>T	ENSP00000441434:p.Trp107Cys		96	0	0		37	0.08	3	NM_006169	20	0	0		Missense_Mutation	SNP	ENST00000535401.1	37	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397318	0.83120	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.17054	2.3;2.3	5.53	5.53	0.82687	.	0.092204	0.47455	D	0.000225	T	0.51109	0.1655	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60342	-0.7282	10	0.87932	D	0	-6.7927	16.9627	0.86277	0.0:0.0:1.0:0.0	.	107	P40261	NNMT_HUMAN	C	107	ENSP00000441434:W107C;ENSP00000299964:W107C	ENSP00000299964:W107C	W	+	3	0	NNMT	113674049	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.583000	0.74053	2.604000	0.88044	0.557000	0.71058	TGG			0.493	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398951.1		NM_006169		T	114168839	G	T	114168839	3	4	54	1	0	0	0	0	1	0	0	0	10526	1270	44	3	327	3	NNMT	11	114168839	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	14223891	114168839	20837677	49	3858											
UBE4A	9354	mdanderson.org	37	chr11	118252157	118252157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catttttctccgccgctttgCcgatgacattttggagacat	7	15	8	11	3	1	2	0	1	1	1	2	4	1	2	3	1	1	1	3	1	0	5			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr11:118252157C>T	ENST00000431736.2	+	12	2021	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	UBE4A_ENST00000545354.1_Missense_Mutation_p.A115V|UBE4A_ENST00000252108.3_Missense_Mutation_p.A643V					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)		CGCCGCTTTGCCGATGACATT	0.398																																					p.A650V													.	.			0			c.C1949T												196	184	188					11																	118252157		2200	4296	6496	SO:0001583	missense	9354	exon12			GCTTTGCCGATGA	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.1949C>T	11.37:g.118252157C>T	ENSP00000387362:p.Ala650Val		129	0	0		48	0.06	3	NM_004788	0		0		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126076	0.94429	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.65916	-0.18;-0.18;0.93	6.17	6.17	0.99709	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.68943	0.824;0.961	T	0.63834	-0.6547	10	0.13853	T	0.58	-10.6547	20.8794	0.99867	0.0:1.0:0.0:0.0	.	643;650	Q14139;Q14139-2	UBE4A_HUMAN;.	V	643;650;115	ENSP00000252108:A643V;ENSP00000387362:A650V;ENSP00000438918:A115V	ENSP00000252108:A643V	A	+	2	0	UBE4A	117757367	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC			0.398	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000398143.1		NM_004788		T	118252157	C	T	118252157	3	4	54	1	0	0	0	0	1	0	0	0	16906	739	26	2	1991	2	UBE4A	11	118252157	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	4083318	118252157	16754359	50	3859											
NTM	50863	broad.mit.edu	37	chr11	132180057	132180057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgtccccgtgggacaaaAggggacactgcagtgtgaag	11	6	16	8	1	0	1	0	1	0	0	1	3	1	3	2	4	1	1	2	4	3	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr11:132180057A>G	ENST00000374786.1	+	5	1192	c.713A>G	c.(712-714)aAg>aGg	p.K238R	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.K238R|NTM_ENST00000427481.2_Missense_Mutation_p.K229R|NTM_ENST00000374784.1_Missense_Mutation_p.K238R|NTM_ENST00000539799.1_Missense_Mutation_p.K238R|NTM_ENST00000425719.2_Missense_Mutation_p.K238R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	238	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTGGGACAAAAGGGGACACTG	0.493																																					p.K238R													.	NTM	253		0			c.A713G												149	148	148					11																	132180057		2201	4297	6498	SO:0001583	missense	50863	exon5			GACAAAAGGGGAC	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.713A>G	11.37:g.132180057A>G	ENSP00000363918:p.Lys238Arg		307	0	0		105	0.04	4	NM_001144059	0		0	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234499	0.39498	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	6.07	4.93	0.64822	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.043596	0.85682	D	0.000000	T	0.45438	0.1342	N	0.11756	0.17	0.46499	D	0.999077	B;B;B;B;B;B	0.18013	0.025;0.025;0.002;0.009;0.003;0.004	B;B;B;B;B;B	0.18263	0.021;0.012;0.007;0.012;0.007;0.007	T	0.30794	-0.9966	10	0.31617	T	0.26	-17.7856	8.1243	0.30988	0.7969:0.1363:0.0669:0.0	.	238;229;238;238;238;238	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	R	238;238;229;238;238;238	ENSP00000363923:K238R;ENSP00000437668:K238R;ENSP00000416320:K229R;ENSP00000363918:K238R;ENSP00000396722:K238R;ENSP00000363916:K238R	ENSP00000363916:K238R	K	+	2	0	NTM	131685267	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.196000	0.58407	1.096000	0.41439	0.533000	0.62120	AAG			0.493	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000141937.1		NM_016522		G	132180057	A	G	132180057	3	3	54	1	0	0	0	0	1	0	0	0	10716	72	3	4	817	4	NTM	11	132180057	Missense_Mutation	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10	13927900	132180057	2826459	51	3860											
KRAS	3845	bcgsc.ca	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	7	14	8	12	1	2	2	1	1	1	1	4	3	3	2	2	0	3	3	2	0	2	3	rs17851045		TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr12:25380275T>A	ENST00000256078.4	-	3	246	c.183A>T	c.(181-183)caA>caT	p.Q61H	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron	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.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.Q61H	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,0,429	KRAS	30930	429	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	c.A183T												109	98	102					12																	25380275		2203	4300	6503	SO:0001583	missense	3845	exon3	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	CTCCTCTTGACCT	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.183A>T	12.37:g.25380275T>A	ENSP00000256078:p.Gln61His		126	0	0		193	0	0	NM_004985	115	0	0	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243092	0.79912	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	rs17851045	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA			0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360		A	25380275	T	A	25380275	3	1	54	1	0	0	0	0	1	0	0	0	8453	1606	56	5	519	5	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10		25380275	108471620	52	3861											
BICD1	636	broad.mit.edu	37	chr12	32369349	32369349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtggtcactaatgtacagGcagaaaacgagaggctcacc	13	7	11	10	1	2	2	2	0	0	2	2	3	2	2	1	3	2	3	1	3	4	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr12:32369349G>A	ENST00000281474.5	+	2	485	c.382G>A	c.(382-384)Gca>Aca	p.A128T	BICD1_ENST00000548411.1_Missense_Mutation_p.A128T	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	128					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)			TAATGTACAGGCAGAAAACGA	0.478																																					p.A128T													.	BICD1	89		0			c.G382A												94	85	88					12																	32369349		2203	4300	6503	SO:0001583	missense	636	exon2			GTACAGGCAGAAA	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.382G>A	12.37:g.32369349G>A	ENSP00000281474:p.Ala128Thr		116	0	0		205	0.02	4	NM_001714	123	0	0	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508414	0.85282	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.27890	1.64;1.64	5.58	4.69	0.59074	.	0.061362	0.64402	N	0.000004	T	0.43277	0.1240	L	0.59436	1.845	0.80722	D	1	P;P	0.52842	0.705;0.956	B;P	0.55545	0.439;0.778	T	0.21484	-1.0244	10	0.23302	T	0.38	.	14.1968	0.65677	0.0714:0.0:0.9286:0.0	.	128;128	F8W113;Q96G01	.;BICD1_HUMAN	T	128	ENSP00000446793:A128T;ENSP00000281474:A128T	ENSP00000281474:A128T	A	+	1	0	BICD1	32260616	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.304000	0.65744	1.359000	0.45940	0.655000	0.94253	GCA			0.478	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403380.1		NM_001714		A	32369349	G	A	32369349	3	1	54	1	0	0	0	0	1	0	0	0	1428	1203	42	2	388	2	BICD1	12	32369349	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	6989074	32369349	101482546	53	3862											
FGD4	121512	bcgsc.ca	37	chr12	32786595	32786599	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-																															aagtggattcacagacagtgAagaaaagaaaagaaaaggaa																								rs139663812		TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	AAGAA	AAGAA					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr12:32786595_32786599delAAGAA	ENST00000427716.2	+	15	2298_2302	c.1874_1878delAAGAA	c.(1873-1878)gaagaafs	p.EE625fs	FGD4_ENST00000266482.3_Frame_Shift_Del_p.EE377fs|FGD4_ENST00000525053.1_Frame_Shift_Del_p.EE737fs|FGD4_ENST00000546442.1_Frame_Shift_Del_p.EE532fs|FGD4_ENST00000534526.2_Frame_Shift_Del_p.EE762fs|FGD4_ENST00000531134.1_Frame_Shift_Del_p.EE710fs	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	625					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)					ACAGACAGTGAAGAAAAGAAAAGAA	0.341																																					p.625_626del													.	FGD4	86		0			c.1874_1878del																																									SO:0001589	frameshift_variant	121512	exon15			ACAGTGAAGAAAA	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.1874_1878delAAGAA	12.37:g.32786605_32786609delAAGAA	ENSP00000394487:p.Glu625fs		116	0	0		215	0	0	NM_139241	38	0	0	Q6ULS2|Q8TCP6	Frame_Shift_Del	DEL	ENST00000427716.2	37	CCDS8727.1																																																																																					0.341	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268017.1		NM_139241		-	32786599	AAGAA	-	32786595	7	5	54	1	0	1	0	1	0	0	0	0	5848	246	9	0	1924	0	FGD4	12	32786595	Frame_Shift_Del	DEL	AAGAA	TCGA-2G-AAHP-01A-12D-A42Y-10	417246	32786595	101065300	54	3863											
NELL2	4753	bcgsc.ca	37	chr12	45173782	45173782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgacttcattccgatggCcactactttccagttccagg	7	13	8	13	1	2	1	1	1	1	0	5	2	5	1	4	2	1	1	4	2	1	5			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr12:45173782C>T	ENST00000429094.2	-	4	863	c.359G>A	c.(358-360)gGc>gAc	p.G120D	NELL2_ENST00000437801.2_Missense_Mutation_p.G170D|NELL2_ENST00000452445.2_Missense_Mutation_p.G120D|NELL2_ENST00000549027.1_Missense_Mutation_p.G119D|NELL2_ENST00000551601.1_Missense_Mutation_p.G119D|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000333837.4_Missense_Mutation_p.G143D|NELL2_ENST00000395487.2_Missense_Mutation_p.G119D	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	120	Laminin G-like.					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)		ATTCCGATGGCCACTACTTTC	0.468																																					p.G170D													NELL2_ENST00000437801,NS,carcinoma,-1,2	NELL2	286	2	0			c.G509A												138	128	131					12																	45173782		2203	4300	6503	SO:0001583	missense	4753	exon5			CGATGGCCACTAC	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.359G>A	12.37:g.45173782C>T	ENSP00000390680:p.Gly120Asp		177	0	0		217	0	0	NM_001145107	1	0	0	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224369	0.95139	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.02682	4.2;4.2;4.2;4.2;4.2;4.2;4.2;4.2;4.2	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.098980	0.64402	D	0.000001	T	0.18257	0.0438	M	0.79926	2.475	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;0.997;0.991;1.0;0.99;0.995	T	0.00133	-1.2010	10	0.87932	D	0	-20.8972	19.4004	0.94627	0.0:1.0:0.0:0.0	.	143;170;119;120;120;119	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	D	119;120;119;120;119;143;170;119;120;117	ENSP00000378866:G119D;ENSP00000390680:G120D;ENSP00000449332:G119D;ENSP00000394612:G120D;ENSP00000447927:G119D;ENSP00000327988:G143D;ENSP00000416341:G170D;ENSP00000447085:G120D;ENSP00000447384:G117D	ENSP00000327988:G143D	G	-	2	0	NELL2	43460049	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.771000	0.85420	2.577000	0.86979	0.655000	0.94253	GGC			0.468	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404180.1		NM_006159		T	45173782	C	T	45173782	3	4	54	1	0	0	0	0	1	0	0	0	10351	739	26	2	2159	2	NELL2	12	45173782	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	12387187	45173782	88678113	55	3864											
MYO1A	4640	mdanderson.org	37	chr12	57432204	57432204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatgtcacctgatgtaGttggggctcttggaatacag	9	11	12	9	0	2	1	1	1	1	0	2	2	2	2	2	3	2	4	2	3	3	4			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr12:57432204G>T	ENST00000442789.2	-	18	2039	c.1752C>A	c.(1750-1752)aaC>aaA	p.N584K	MYO1A_ENST00000300119.3_Missense_Mutation_p.N584K|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000544473.1_Missense_Mutation_p.N422K	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	584	Actin-binding. {ECO:0000255}.|Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ACCTGATGTAGTTGGGGCTCT	0.547																																					p.N584K													.	.			0			c.C1752A												51	47	48					12																	57432204		2203	4300	6503	SO:0001583	missense	4640	exon17			GATGTAGTTGGGG	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1752C>A	12.37:g.57432204G>T	ENSP00000393392:p.Asn584Lys		65	0	0		79	0.06	5	NM_005379	2	0	0	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767321	0.69878	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.71341	-0.56;-0.56;-0.56	4.94	3.11	0.35812	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	M	0.84511	2.7	0.46499	D	0.999073	D	0.89917	1.0	D	0.87578	0.998	T	0.82504	-0.0424	10	0.52906	T	0.07	.	9.8519	0.41061	0.1714:0.0:0.8286:0.0	.	584	Q9UBC5	MYO1A_HUMAN	K	584;584;422	ENSP00000300119:N584K;ENSP00000393392:N584K;ENSP00000440514:N422K	ENSP00000300119:N584K	N	-	3	2	MYO1A	55718471	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.581000	0.53914	0.621000	0.30232	0.561000	0.74099	AAC			0.547	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313833.2		NM_005379		T	57432204	G	T	57432204	3	4	54	1	0	0	0	0	1	0	0	0	10084	1020	36	3	1427	3	MYO1A	12	57432204	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	12258422	57432204	76419691	56	3865											
FRS2	10818	bcgsc.ca	37	chr12	69964184	69964184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagacacagaactgatttTatacacccgcaaacgtgact	15	9	6	11	2	0	4	0	2	0	2	0	4	0	4	1	0	4	1	1	0	5	4			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr12:69964184T>C	ENST00000550389.1	+	4	386	c.140T>C	c.(139-141)tTa>tCa	p.L47S	FRS2_ENST00000397997.2_Missense_Mutation_p.L47S|FRS2_ENST00000549921.1_Missense_Mutation_p.L47S|FRS2_ENST00000299293.2_Missense_Mutation_p.L47S	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	47	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAACTGATTTTATACACCCGC	0.423																																					p.L47S													.	FRS2	88		0			c.T140C												164	155	158					12																	69964184		2003	4177	6180	SO:0001583	missense	10818	exon7			TGATTTTATACAC	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.140T>C	12.37:g.69964184T>C	ENSP00000447241:p.Leu47Ser		179	0	0		228	0	0	NM_001042555	18	0	0	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	T	31	5.090819	0.94149	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000547414;ENST00000550389;ENST00000550937;ENST00000397997;ENST00000551325	D;D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.77	5.77	0.91146	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.96614	0.8895	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97042	0.9758	9	.	.	.	-12.1411	16.0903	0.81086	0.0:0.0:0.0:1.0	.	47	Q8WU20	FRS2_HUMAN	S	47;47;10;47;47;47;47	ENSP00000299293:L47S;ENSP00000450048:L47S;ENSP00000447007:L10S;ENSP00000447241:L47S;ENSP00000447804:L47S;ENSP00000381083:L47S;ENSP00000449432:L47S	.	L	+	2	0	FRS2	68250451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.202000	0.70862	0.459000	0.35465	TTA			0.423	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403760.1		NM_006654		C	69964184	T	C	69964184	3	2	54	1	0	0	0	0	1	0	0	0	6074	1764	61	4	146	4	FRS2	12	69964184	Missense_Mutation	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10	12531980	69964184	63887711	57	3866											
E2F7	144455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	77449732	77449732	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctgggctggcagcactaAtgagcatcttcaggttagct	9	12	11	9	0	3	1	1	1	2	0	3	1	3	1	0	3	3	6	0	3	3	4			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr12:77449732A>C	ENST00000322886.7	-	3	507	c.272T>G	c.(271-273)aTt>aGt	p.I91S	E2F7_ENST00000416496.2_Missense_Mutation_p.I91S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	91					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGCAGCACTAATGAGCATCTT	0.438																																					p.I91S													.	.			0			c.T272G												156	151	152					12																	77449732		2203	4300	6503	SO:0001583	missense	144455	exon3			GCACTAATGAGCA	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.272T>G	12.37:g.77449732A>C	ENSP00000323246:p.Ile91Ser		151	0	0		224	0.19	43	NM_203394	7	0.43	3	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781295	0.90282	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669;ENST00000547316	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.78456	2.415	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.68192	0.956;0.905	D	0.93132	0.6534	10	0.52906	T	0.07	-19.2963	15.1519	0.72706	1.0:0.0:0.0:0.0	.	91;91	F8VSE7;Q96AV8	.;E2F7_HUMAN	S	91	ENSP00000323246:I91S;ENSP00000393639:I91S;ENSP00000448245:I91S;ENSP00000449033:I91S	ENSP00000323246:I91S	I	-	2	0	E2F7	75973863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.167000	0.68274	0.528000	0.53228	ATT			0.438	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406716.1		XM_084871		C	77449732	A	C	77449732	3	2	54	1	0	0	0	0	1	0	0	0	4877	101	4	4	2507	4	E2F7	12	77449732	Missense_Mutation	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10	7485548	77449732	56402163	58	3867											
C12orf65	91574	bcgsc.ca	37	chr12	123741505	123741505	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaaacaagaaaggaaaaAaagagcaaaggaaaccctgg	25	1	10	5	0	0	2	0	0	0	2	0	5	0	4	1	3	3	1	1	3	10	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr12:123741505A>C	ENST00000253233.1	+	3	1072	c.428A>C	c.(427-429)aAa>aCa	p.K143T	RP11-282O18.3_ENST00000541002.3_RNA|RP11-282O18.3_ENST00000542427.2_RNA|RP11-282O18.3_ENST00000544890.1_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.K143T|C12orf65_ENST00000429587.2_Missense_Mutation_p.K143T|RP11-282O18.3_ENST00000543217.2_RNA	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	143					cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		gaaaggaaaaaaagagcaaag	0.363																																					p.K143T													.	C12orf65	15		0			c.A428C												50	58	56					12																	123741505		2203	4300	6503	SO:0001583	missense	91574	exon3			GGAAAAAAAGAGC	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.428A>C	12.37:g.123741505A>C	ENSP00000253233:p.Lys143Thr		199	0	0		207	0	0	NM_001194995	127	0	0	Q8WUC6	Missense_Mutation	SNP	ENST00000253233.1	37	CCDS9244.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566371	0.45694	.	.	ENSG00000130921	ENST00000253233;ENST00000366329;ENST00000429587	T;T;T	0.11495	2.77;2.77;2.77	5.86	0.954	0.19595	Peptide chain release factor class I/class II (1);	0.319616	0.38217	N	0.001765	T	0.18087	0.0434	L	0.60067	1.865	0.23813	N	0.996772	D	0.54601	0.967	P	0.54759	0.76	T	0.04140	-1.0974	10	0.87932	D	0	-11.88	8.2243	0.31560	0.6735:0.0:0.3265:0.0	.	143	Q9H3J6	CL065_HUMAN	T	143	ENSP00000253233:K143T;ENSP00000390647:K143T;ENSP00000391513:K143T	ENSP00000253233:K143T	K	+	2	0	C12orf65	122307458	0.991000	0.36638	0.791000	0.31998	0.897000	0.52465	0.723000	0.25939	0.140000	0.18849	-0.262000	0.10625	AAA			0.363	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401375.1		NM_152269		C	123741505	A	C	123741505	3	2	54	1	0	0	0	0	1	0	0	0	1710	14	1	4	434	4	C12orf65	12	123741505	Missense_Mutation	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10	46291773	123741505	10110390	59	3868											
SCARB1	949	mdanderson.org	37	chr12	125270941	125270941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgacagggaccagcagcaGgacgcagcccagcgccagga	12	1	15	13	2	0	1	0	1	0	0	0	5	0	4	3	3	4	3	3	3	0	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr12:125270941G>T	ENST00000415380.2	-	11	1488	c.1363C>A	c.(1363-1365)Ctg>Atg	p.L455M	SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000544327.1_Missense_Mutation_p.L401M|SCARB1_ENST00000376788.1_Missense_Mutation_p.L355M|SCARB1_ENST00000261693.6_Missense_Mutation_p.L455M|SCARB1_ENST00000541205.1_Missense_Mutation_p.L414M|SCARB1_ENST00000540495.1_Missense_Mutation_p.L418M|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000339570.5_Missense_Mutation_p.L455M			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	455					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	ACCAGCAGCAGGACGCAGCCC	0.612																																					p.L455M													.	.			0			c.C1363A												151	129	137					12																	125270941		2203	4300	6503	SO:0001583	missense	949	exon11			GCAGCAGGACGCA	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1363C>A	12.37:g.125270941G>T	ENSP00000414979:p.Leu455Met		49	0	0		51	0.06	3	NM_005505	35	0	0	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	G	10.01	1.234007	0.22626	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.35	4.26	0.50523	.	0.356351	0.30890	N	0.008669	T	0.80571	0.4648	L	0.58969	1.84	0.33185	D	0.550042	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.98	D;D;D;D;P	0.65010	0.93;0.93;0.93;0.931;0.837	T	0.82892	-0.0232	10	0.35671	T	0.21	-31.2887	11.8949	0.52652	0.0986:0.0:0.9014:0.0	.	414;455;455;455;455	B3KW46;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;SCRB1_HUMAN;.;.	M	455;455;455;355;414;401;418	ENSP00000343795:L455M;ENSP00000414979:L455M;ENSP00000261693:L455M;ENSP00000365984:L355M;ENSP00000446107:L414M;ENSP00000444851:L401M;ENSP00000443286:L418M	ENSP00000261693:L455M	L	-	1	2	SCARB1	123836894	0.967000	0.33354	0.962000	0.40283	0.013000	0.08279	1.800000	0.38833	2.509000	0.84616	0.555000	0.69702	CTG			0.612	SCARB1-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000400165.1		NM_005505		T	125270941	G	T	125270941	3	4	54	1	0	0	0	0	1	0	0	0	13904	991	35	3	298	3	SCARB1	12	125270941	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	1529436	125270941	8580954	60	3869											
NAA16	79612	bcgsc.ca	37	chr13	41894924	41894924	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttgagggatctctcactGttgcagatccaaatgagaga	12	12	10	7	0	2	4	1	2	1	2	4	6	3	5	1	1	1	2	1	1	1	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr13:41894924G>T	ENST00000379406.3	+	4	690	c.366G>T	c.(364-366)ctG>ctT	p.L122L	NAA16_ENST00000403412.3_Silent_p.L122L|NAA16_ENST00000379367.3_Silent_p.L122L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	122					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						ATCTCTCACTGTTGCAGATCC	0.343																																					p.L122L													.	NAA16	74		0			c.G366T												63	63	63					13																	41894924		2203	4300	6503	SO:0001819	synonymous_variant	79612	exon4			CTCACTGTTGCAG	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.366G>T	13.37:g.41894924G>T			96	0	0		75	0.01	1	NM_001110798	5	0	0	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	ENST00000379406.3	37	CCDS9379.1																																																																																					0.343	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044672.2		NM_018527		T	41894924	G	T	41894924	2	4	54	1	0	0	0	0	0	0	0	1	10135	1364	48	3		3	NAA16	13	41894924	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10		41894924	73274954	61	3870											
SCEL	8796	mdanderson.org	37	chr13	78142455	78142455	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtccatgtttagatcactgGaagtaacaaagttgtatgta	13	14	9	5	0	1	1	1	0	0	1	2	2	2	2	1	1	1	5	1	1	6	6			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr13:78142455G>T	ENST00000349847.3	+	7	469	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	SCEL_ENST00000535157.1_Nonsense_Mutation_p.E129*|SCEL_ENST00000377246.3_Nonsense_Mutation_p.E129*	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	129					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)		TAGATCACTGGAAGTAACAAA	0.323																																					p.E129X													.	.			0			c.G385T												134	128	130					13																	78142455		2203	4299	6502	SO:0001587	stop_gained	8796	exon7			TCACTGGAAGTAA	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.385G>T	13.37:g.78142455G>T	ENSP00000302579:p.Glu129*		92	0	0		46	0.07	3	NM_001160706	0		0	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Nonsense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589011	0.46110	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	.	.	.	5.64	3.87	0.44632	.	0.866460	0.10111	N	0.714687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-3.6796	12.8667	0.57944	0.0:0.3115:0.6885:0.0	.	.	.	.	X	106;129;129;129	.	ENSP00000315127:E106X	E	+	1	0	SCEL	77040456	0.399000	0.25287	0.014000	0.15608	0.018000	0.09664	2.982000	0.49337	0.704000	0.31869	0.650000	0.86243	GAA			0.323	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045339.2		NM_144777		T	78142455	G	T	78142455	4	4	54	1	0	0	0	0	0	1	0	0	13911	1175	41	3	407	3	SCEL	13	78142455	Nonsense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	36247531	78142455	37027423	62	3871											
EFNB2	1948	mdanderson.org	37	chr13	107145463	107145463	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaccgggtgcccgtagtcGccgctgaccttctcgtagtg	5	10	12	14	5	1	1	0	1	1	0	3	1	1	1	4	1	2	3	4	1	3	4	rs7995379		TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr13:107145463G>T	ENST00000245323.4	-	5	1076	c.927C>A	c.(925-927)ggC>ggA	p.G309G		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	309					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GCCCGTAGTCGCCGCTGACCT	0.602																																					p.G309G													EFNB2,NS,carcinoma,-2,2	EFNB2	-2	2	0			c.C927A												90	73	79					13																	107145463		2203	4300	6503	SO:0001819	synonymous_variant	1948	exon5			GTAGTCGCCGCTG	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.927C>A	13.37:g.107145463G>T			67	0	0		46	0.04	2	NM_004093	3	0	0	Q5JV56	Silent	SNP	ENST00000245323.4	37	CCDS9507.1																																																																																					0.602	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045733.4		NM_004093		T	107145463	G	T	107145463	2	4	54	1	0	0	0	0	0	0	0	1	4961	1074	38	1		1	EFNB2	13	107145463	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	29003008	107145463	8024415	63	3872											
KIAA1409	57578	broad.mit.edu	37	chr14	94120138	94120138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagcagttcctgcgctGcatcttccatcagttggccc	6	10	10	15	1	2	0	1	0	1	0	4	0	4	0	4	2	3	5	4	2	1	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr14:94120138G>A	ENST00000393151.2	+	37	6251	c.6251G>A	c.(6250-6252)tGc>tAc	p.C2084Y	UNC79_ENST00000555664.1_Missense_Mutation_p.C2045Y|UNC79_ENST00000256339.4_Missense_Mutation_p.C1907Y|UNC79_ENST00000553484.1_Missense_Mutation_p.C2106Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2084					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						TTCCTGCGCTGCATCTTCCAT	0.557																																					p.C1907Y													.	UNC79	366		0			c.G5720A												182	185	184					14																	94120138		2203	4300	6503	SO:0001583	missense	57578	exon37			TGCGCTGCATCTT	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.6251G>A	14.37:g.94120138G>A	ENSP00000376858:p.Cys2084Tyr		123	0	0		142	0.04	5	NM_020818	2	0	0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668160	0.88348	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.18	5.18	0.71444	.	0.045927	0.85682	D	0.000000	T	0.57315	0.2045	M	0.71036	2.16	0.58432	D	0.999994	D	0.69078	0.997	D	0.81914	0.995	T	0.60835	-0.7184	10	0.87932	D	0	-12.2687	19.0903	0.93224	0.0:0.0:1.0:0.0	.	2106	C9JQL1	.	Y	1907;2045;2106;2084;2106	ENSP00000256339:C1907Y;ENSP00000450868:C2045Y;ENSP00000451360:C2106Y;ENSP00000376858:C2084Y	ENSP00000256339:C1907Y	C	+	2	0	KIAA1409	93189891	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	9.813000	0.99286	2.572000	0.86782	0.655000	0.94253	TGC			0.557	UNC79-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000412766.1		XM_028395		A	94120138	G	A	94120138	3	1	54	1	0	0	0	0	1	0	0	0	8245	1319	46	2	5854	2	KIAA1409	14	94120138	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10		94120138	13229402	64	3873											
ATG2B	55102	broad.mit.edu	37	chr14	96781835	96781835	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggccatcttcttcagaGgaataaatagtaggttccaa	13	11	9	8	0	3	2	1	1	2	1	4	3	4	3	2	3	0	2	2	3	6	6			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr14:96781835G>T	ENST00000359933.4	-	22	4340	c.3447C>A	c.(3445-3447)tcC>tcA	p.S1149S		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1149					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)		CTTCTTCAGAGGAATAAATAG	0.438																																					p.S1149S													.	ATG2B	169		0			c.C3447A												46	47	47					14																	96781835		2203	4300	6503	SO:0001819	synonymous_variant	55102	exon22			TTCAGAGGAATAA	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.3447C>A	14.37:g.96781835G>T			346	0.0028901734	1		390	0.01	5	NM_018036	3	0	0	Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	CCDS9944.2																																																																																					0.438	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314037.1		NM_018036		T	96781835	G	T	96781835	2	4	54	1	0	0	0	0	0	0	0	1	1094	987	35	3		3	ATG2B	14	96781835	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	2661697	96781835	10567705	65	3874											
ZNF592	9640	broad.mit.edu	37	chr15	85345188	85345188	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccaaaaggcacaagtcccTttttcagtgcgcgaaatgta	13	9	8	11	2	1	0	1	0	0	0	2	1	2	0	2	1	1	2	2	1	5	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr15:85345188T>C	ENST00000560079.2	+	11	3656	c.3368T>C	c.(3367-3369)cTt>cCt	p.L1123P	ZNF592_ENST00000299927.3_Missense_Mutation_p.L1123P	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1123					cell death (GO:0008219)|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(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACAAGTCCCTTTTTCAGTGC	0.537																																					p.L1123P													.	ZNF592	95		0			c.T3368C												64	62	63					15																	85345188		2203	4296	6499	SO:0001583	missense	9640	exon11			AGTCCCTTTTTCA	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3368T>C	15.37:g.85345188T>C	ENSP00000452877:p.Leu1123Pro		393	0.0050890585	2		320	0.02	5	NM_014630	47	0	0	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510643	0.44660	.	.	ENSG00000166716	ENST00000299927	T	0.00620	6.17	5.62	5.62	0.85841	.	0.386938	0.28125	N	0.016513	T	0.00384	0.0012	N	0.00670	-1.27	0.80722	D	1	P	0.47253	0.892	B	0.43478	0.421	D	0.89295	0.3622	10	0.30078	T	0.28	-6.066	13.7759	0.63053	0.0:0.0:0.0:1.0	.	1123	Q92610	ZN592_HUMAN	P	1123	ENSP00000299927:L1123P	ENSP00000299927:L1123P	L	+	2	0	ZNF592	83146192	0.902000	0.30710	0.998000	0.56505	0.992000	0.81027	1.987000	0.40687	2.139000	0.66308	0.533000	0.62120	CTT			0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418779.2		NM_014630		C	85345188	T	C	85345188	3	2	54	1	0	0	0	0	1	0	0	0	18045	1609	56	4	3398	4	ZNF592	15	85345188	Missense_Mutation	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10		85345188	17186204	66	3875											
ZC3H7A	29066	bcgsc.ca	37	chr16	11859005	11859005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctaggcttatgatcaaaaCatttctggaatagagagaga	15	12	9	5	0	3	3	1	1	2	2	3	6	3	4	0	2	1	1	0	2	6	5			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr16:11859005C>G	ENST00000396516.2	-	14	1921	c.1724G>C	c.(1723-1725)tGt>tCt	p.C575S	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.C575S			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	575						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ATGATCAAAACATTTCTGGAA	0.269																																					p.C575S													.	ZC3H7A	72		0			c.G1724C												58	58	58					16																	11859005		2197	4294	6491	SO:0001583	missense	29066	exon15			TCAAAACATTTCT	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1724G>C	16.37:g.11859005C>G	ENSP00000379773:p.Cys575Ser		112	0	0		123	0	0	NM_014153	11	0	0	D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637210	0.87760	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.66815	-0.23;-0.23	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83925	0.0303	10	0.87932	D	0	.	18.5622	0.91104	0.0:1.0:0.0:0.0	.	296;575	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	S	575	ENSP00000347999:C575S;ENSP00000379773:C575S	ENSP00000347999:C575S	C	-	2	0	ZC3H7A	11766506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.687000	0.84139	2.689000	0.91719	0.591000	0.81541	TGT			0.269	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437066.1		NM_014153		G	11859005	C	G	11859005	3	3	54	1	0	0	0	0	1	0	0	0	17595	478	17	5	1227	5	ZC3H7A	16	11859005	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10		11859005	78495748	67	3876											
HIRIP3	8479	broad.mit.edu	37	chr16	30005338	30005338	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctccccctgggggccTccccctgcctcgctgtcact	1	11	8	21	1	2	0	1	0	1	0	6	0	4	0	7	2	1	1	7	2	0	1			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr16:30005338T>C	ENST00000279392.3	-	4	1958	c.1128A>G	c.(1126-1128)ggA>ggG	p.G376G	INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567705.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	376					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCTGGGGGCCTCCCCCTGCCT	0.582																																					p.G376G													.	HIRIP3	45		0			c.A1128G												97	87	90					16																	30005338		2197	4300	6497	SO:0001819	synonymous_variant	8479	exon4			GGGGCCTCCCCCT	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1128A>G	16.37:g.30005338T>C			167	0	0		120	0.05	6	NM_003609	37	0	0	H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	CCDS10664.1																																																																																					0.582	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255160.2		NM_003609		C	30005338	T	C	30005338	2	2	54	1	0	0	0	0	0	0	0	1	7136	1538	54	4		4	HIRIP3	16	30005338	Silent	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10	18146333	30005338	60349415	68	3877											
GPT2	84706	bcgsc.ca	37	chr16	46918656	46918656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcgctggtccggcGgggctgtggtccccggaccc	1	5	20	15	6	0	0	0	0	0	0	2	1	2	1	4	9	0	2	4	9	0	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr16:46918656G>C	ENST00000340124.4	+	2	141	c.29G>C	c.(28-30)cGg>cCg	p.R10P	GPT2_ENST00000440783.2_5'Flank	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	10					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CTGGTCCGGCGGGGCTGTGGT	0.721																																					p.R10P													.	GPT2	40		0			c.G29C												14	18	17					16																	46918656		1389	3029	4418	SO:0001583	missense	84706	exon2			TCCGGCGGGGCTG		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.29G>C	16.37:g.46918656G>C	ENSP00000345282:p.Arg10Pro		40	0	0		53	0	0	NM_133443	9	0	0	Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563643	0.45694	.	.	ENSG00000166123	ENST00000340124	D	0.82984	-1.67	4.9	3.93	0.45458	.	0.512331	0.17159	N	0.184779	T	0.70868	0.3273	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65113	-0.6247	10	0.44086	T	0.13	.	8.7685	0.34717	0.0:0.2197:0.6294:0.151	.	10	Q8TD30	ALAT2_HUMAN	P	10	ENSP00000345282:R10P	ENSP00000345282:R10P	R	+	2	0	GPT2	45476157	0.999000	0.42202	1.000000	0.80357	0.773000	0.43773	0.638000	0.24674	1.160000	0.42584	0.297000	0.19635	CGG			0.721	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255741.2				C	46918656	G	C	46918656	3	2	54	1	0	0	0	0	1	0	0	0	6753	1116	39	5	31	5	GPT2	16	46918656	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	16913318	46918656	43436097	69	3878											
SGSM2	9905	mdanderson.org	37	chr17	2266157	2266157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actacgagaaggaggcactgCtggcagaccctgtgttcggc	9	7	14	11	2	0	2	0	0	0	2	1	4	0	3	1	4	2	4	1	4	2	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr17:2266157C>T	ENST00000426855.2	+	5	659	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	SGSM2_ENST00000268989.3_Silent_p.L162L|SGSM2_ENST00000574563.1_Silent_p.L162L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	162	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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)		GGAGGCACTGCTGGCAGACCC	0.617																																					p.L162L													.	.			0			c.C484T												90	84	86					17																	2266157		2203	4300	6503	SO:0001819	synonymous_variant	9905	exon5			GCACTGCTGGCAG	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.484C>T	17.37:g.2266157C>T			70	0	0		45	0.07	3	NM_001098509	9	0	0	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	CCDS45570.1																																																																																					0.617	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438186.1		NM_014853		T	2266157	C	T	2266157	2	4	54	1	0	0	0	0	0	0	0	1	14246	796	28	2		2	SGSM2	17	2266157	Silent	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10		2266157	78929053	70	3879											
PIGW	284098	mdanderson.org	37	chr17	34893834	34893834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgatggtagtggcacacGggttggtctattaaatgcca	10	11	12	8	1	1	1	0	1	1	0	1	1	1	1	1	4	1	3	1	4	4	4			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr17:34893834G>T	ENST00000592983.1	+	2	1464	c.884G>T	c.(883-885)cGg>cTg	p.R295L	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.R295L			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	295					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|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)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTGGCACACGGGTTGGTCTA	0.443																																					p.R295L													.	.			0			c.G884T												79	79	79					17																	34893834		2203	4300	6503	SO:0001583	missense	284098	exon2			GCACACGGGTTGG	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"Phosphatidylinositol glycan anchor biosynthesis"	23213	protein-coding gene	gene with protein product		610275	"phosphatidylinositol glycan, class W"			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.884G>T	17.37:g.34893834G>T	ENSP00000468778:p.Arg295Leu		55	0	0		38	0.08	3	NM_178517	8	0	0	Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805389	0.70682	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.50922	0.1644	N	0.08118	0	0.44789	D	0.997794	D	0.71674	0.998	P	0.62298	0.9	T	0.53194	-0.8473	8	.	.	.	-7.4769	18.2414	0.89968	0.0:0.0:1.0:0.0	.	295	Q7Z7B1	PIGW_HUMAN	L	295	.	.	R	+	2	0	PIGW	31967947	0.998000	0.40836	0.995000	0.50966	0.952000	0.60782	3.945000	0.56637	2.619000	0.88677	0.561000	0.74099	CGG			0.443	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451318.1		NM_178517		T	34893834	G	T	34893834	3	4	54	1	0	0	0	0	1	0	0	0	11919	1116	39	1	886	1	PIGW	17	34893834	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	32627677	34893834	46301376	71	3880											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274205	39274206	+	Missense_Mutation	DNP	TC	TC	CT																															acagactggcagcactggggTctgcagcagctggacacaca																								rs79388709|rs80322614	byFrequency	TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr17:39274205_39274206TC>CT	ENST00000391413.2	-	1	400_401	c.362_363GA>AG	c.(361-363)aGA>aAG	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)|p.R121R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcactggggtctgcagcagct	0.649																																					p.R121K													KRTAP4-11,NS,carcinoma,0,9	KRTAP4-11	94	9	6	Substitution - Missense(5)|Substitution - coding silent(1)	lung(2)|prostate(2)|kidney(1)|skin(1)	c.G362A																																									SO:0001583	missense	653240	exon1			CTGGGGTCTGCAG	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362_363delinsCT	17.37:g.39274205_39274206delinsCT	ENSP00000375232:p.Arg121Lys		38	0	0		34	0.18	6	NM_033059	0		0	A0AUY2	Missense_Mutation	DNP	ENST00000391413.2	37	CCDS45675.1																																																																																					0.649	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257690.1				CT	39274206	TC	CT	39274205	3	2	54	1	0	0	0	0	1	0	0	0	8564	1664	58	4	228	4	KRTAP4-11	17	39274205	Missense_Mutation	DNP	TC	TCGA-2G-AAHP-01A-12D-A42Y-10	4380371	39274205	41921005	72	3881											
WNT3	7473	broad.mit.edu	37	chr17	44851046	44851046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtacctttgtcgaggaCgggcccaaagatggccaggc	9	6	15	11	2	0	1	0	0	0	1	1	3	0	2	3	5	1	2	3	5	2	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr17:44851046C>T	ENST00000225512.5	-	2	472	c.310G>A	c.(310-312)Gtc>Atc	p.V104I		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	104					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|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 fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	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)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TTGTCGAGGACGGGCCCAAAG	0.667																																					p.R104S													.	WNT3	34		0			c.C310A												27	31	29					17																	44851046		2203	4300	6503	SO:0001583	missense	7473	exon2			CGAGGACGGGCCC	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.310G>A	17.37:g.44851046C>T	ENSP00000225512:p.Val104Ile		230	0	0		156	0.03	5	NM_030753	10	0	0	Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280187	0.80692	.	.	ENSG00000108379	ENST00000225512	T	0.75154	-0.91	4.42	4.42	0.53409	.	0.065505	0.64402	D	0.000011	T	0.63534	0.2519	L	0.37800	1.135	0.80722	D	1	P	0.44578	0.838	B	0.36567	0.228	T	0.64859	-0.6308	10	0.27082	T	0.32	.	17.2057	0.86917	0.0:1.0:0.0:0.0	.	104	P56703	WNT3_HUMAN	I	104	ENSP00000225512:V104I	ENSP00000225512:V104I	V	-	1	0	WNT3	42206209	1.000000	0.71417	0.960000	0.40013	0.913000	0.54294	5.830000	0.69324	2.283000	0.76528	0.462000	0.41574	GTC			0.667	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440427.1		NM_030753		T	44851046	C	T	44851046	3	4	54	1	0	0	0	0	1	0	0	0	17412	536	19	1	769	1	WNT3	17	44851046	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	5576841	44851046	36344164	73	3882											
CDC27	996	mdanderson.org	37	chr17	45219803	45219803	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaattttttgctattctcCtgtaaaagggaagaaatttc	12	18	6	5	0	1	1	0	0	1	1	3	2	1	2	1	1	1	2	1	1	6	9			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr17:45219803C>A	ENST00000066544.3	-	11	1264		c.e11-1		CDC27_ENST00000527547.1_Splice_Site|CDC27_ENST00000531206.1_Splice_Site|CDC27_ENST00000446365.2_Splice_Site	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTATTCTCCTGTAAAAGGG	0.294																																					.													.	.			0			c.1171-1G>T												5	5	5					17																	45219803		2024	4065	6089	SO:0001630	splice_region_variant	996	exon12			ATTCTCCTGTAAA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1171-1G>T	17.37:g.45219803C>A			53	0	0		39	0.08	3	NM_001256	2	0	0	G3V1C4|Q16349|Q96F35	Splice_Site	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973320	0.53614	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7489	0.85480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC27	42574802	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.729000	0.84864	2.566000	0.86566	0.460000	0.39030	.			0.294	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2			Intron	A	45219803	C	A	45219803	5	1	54	1	0	0	0	0	0	0	1	0	3068	695	24	3	1340	3	CDC27	17	45219803	Splice_Site	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	368757	45219803	35975407	74	3883											
SNX11	29916	mdanderson.org	37	chr17	46196070	46196070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtggctgcacaggcctGttcctgaacttcctgggaag	7	11	12	11	0	1	1	1	1	0	0	3	2	3	2	3	3	2	3	3	3	2	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr17:46196070G>T	ENST00000393405.2	+	6	589	c.235G>T	c.(235-237)Gtt>Ttt	p.V79F	SNX11_ENST00000452859.2_5'UTR|SNX11_ENST00000439357.2_Missense_Mutation_p.V18F|SNX11_ENST00000582104.1_Missense_Mutation_p.V71F|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000359238.2_Missense_Mutation_p.V79F|SNX11_ENST00000580219.1_Missense_Mutation_p.V71F	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	79	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GCACAGGCCTGTTCCTGAACT	0.458																																					p.V79F													.	.			0			c.G235T												81	74	77					17																	46196070		2203	4300	6503	SO:0001583	missense	29916	exon5			AGGCCTGTTCCTG	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"Sorting nexins"	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.235G>T	17.37:g.46196070G>T	ENSP00000377059:p.Val79Phe		72	0	0		48	0.06	3	NM_013323	24	0	0	B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	ENST00000393405.2	37	CCDS11526.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797233	0.50208	.	.	ENSG00000002919	ENST00000393405;ENST00000439357;ENST00000359238	T;T;T	0.42900	0.96;0.96;0.96	5.83	5.83	0.93111	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.64571	0.2610	M	0.63843	1.955	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	T	0.65022	-0.6269	10	0.87932	D	0	.	18.8899	0.92395	0.0:0.0:1.0:0.0	.	18;71;79	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	F	79;18;79	ENSP00000377059:V79F;ENSP00000407369:V18F;ENSP00000352175:V79F	ENSP00000352175:V79F	V	+	1	0	SNX11	43551069	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.749000	0.91619	2.769000	0.95229	0.655000	0.94253	GTT			0.458	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443423.1				T	46196070	G	T	46196070	3	4	54	1	0	0	0	0	1	0	0	0	14905	1377	48	3	249	3	SNX11	17	46196070	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	976267	46196070	34999140	75	3884											
ST6GALNAC1	55808	bcgsc.ca	37	chr17	74623260	74623260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctcccagcggggaggCtggccaggagcagctgctgc	6	4	19	12	1	0	0	0	0	0	0	1	3	1	3	2	7	5	5	2	7	0	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr17:74623260C>T	ENST00000156626.7	-	4	1260	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	354					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGCTGGCCAGGAG	0.642																																					p.S354N													.	ST6GALNAC1	42		0			c.G1061A												52	46	48					17																	74623260		2203	4300	6503	SO:0001583	missense	55808	exon4			GGGAGGCTGGCCA	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1061G>A	17.37:g.74623260C>T	ENSP00000156626:p.Ser354Asn		69	0	0		53	0	0	NM_018414	20	0	0	Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.241958	0.10077	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.32023	1.47;1.47	4.65	-0.673	0.11373	.	0.927660	0.09242	N	0.829016	T	0.23611	0.0571	L	0.43152	1.355	0.09310	N	1	B	0.23128	0.08	B	0.30029	0.11	T	0.37842	-0.9688	10	0.22706	T	0.39	-7.311	5.6418	0.17569	0.0:0.3591:0.3379:0.303	.	354	Q9NSC7	SIA7A_HUMAN	N	354	ENSP00000156626:S354N;ENSP00000351991:S354N	ENSP00000156626:S354N	S	-	2	0	ST6GALNAC1	72134855	0.000000	0.05858	0.027000	0.17364	0.061000	0.15899	-0.087000	0.11215	0.128000	0.18479	-0.237000	0.12165	AGC			0.642	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450974.1		NM_018414		T	74623260	C	T	74623260	3	4	54	1	0	0	0	0	1	0	0	0	15246	797	28	2	765	2	ST6GALNAC1	17	74623260	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	28427190	74623260	6571950	76	3885											
RNF213	57674	bcgsc.ca	37	chr17	78321501	78321501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaccagtactacgtccaCctcggcggccagaagtacgt	10	7	9	15	4	1	1	1	0	0	1	3	1	2	1	4	2	4	2	4	2	5	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr17:78321501C>T	ENST00000582970.1	+	29	9509	c.9366C>T	c.(9364-9366)caC>caT	p.H3122H	RNF213_ENST00000336301.6_Silent_p.H1195H|RNF213_ENST00000508628.2_Silent_p.H3171H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3122					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)			ACTACGTCCACCTCGGCGGCC	0.552																																					p.H3122H													.	RNF213	766		0			c.C9366T												77	78	77					17																	78321501		2203	4300	6503	SO:0001819	synonymous_variant	57674	exon29			CGTCCACCTCGGC	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.9366C>T	17.37:g.78321501C>T			161	0	0		118	0	0	NM_001256071	6	0	0	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																					0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000443298.1		NM_020914		T	78321501	C	T	78321501	2	4	54	1	0	0	0	0	0	0	0	1	13500	506	18	3		3	RNF213	17	78321501	Silent	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	3698241	78321501	2873709	77	3886											
CXXC1	30827	mdanderson.org	37	chr18	47810351	47810351	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttccatttcctgaaggcgAgtgcgggcactctgctgctc	5	11	12	13	3	1	1	0	1	1	0	4	2	3	1	2	2	3	4	2	2	1	2	rs7228084	byFrequency	TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr18:47810351A>T	ENST00000285106.6	-	10	2040	c.1326T>A	c.(1324-1326)acT>acA	p.T442T	MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000585595.1_5'Flank|CXXC1_ENST00000589940.1_Silent_p.T442T|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Silent_p.T446T|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000585672.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	442					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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCTGAAGGCGAGTGCGGGCAC	0.602																																					p.T446T													.	.			0			c.T1338A												107	97	100					18																	47810351		2203	4300	6503	SO:0001819	synonymous_variant	30827	exon10			AAGGCGAGTGCGG	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1326T>A	18.37:g.47810351A>T			73	0	0		54	0.04	2	NM_001101654	292	0	0	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	CCDS11945.1																																																																																					0.602	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255927.2		NM_014593		T	47810351	A	T	47810351	2	4	54	1	0	0	0	0	0	0	0	1	4099	291	11	5		5	CXXC1	18	47810351	Silent	SNP	A	TCGA-2G-AAHP-01A-12D-A42Y-10		47810351	30266897	78	3887											
DNMT1	1786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	10254526	10254526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaagatctctttgatcCggccaattcggtagggctca	10	10	11	10	2	2	3	1	1	1	2	5	4	3	3	2	3	0	2	2	3	3	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr19:10254526C>T	ENST00000340748.4	-	28	3219	c.2984G>A	c.(2983-2985)cGg>cAg	p.R995Q	DNMT1_ENST00000540357.1_Missense_Mutation_p.R995Q|DNMT1_ENST00000359526.4_Missense_Mutation_p.R1011Q|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	995	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)	CTCTTTGATCCGGCCAATTCG	0.542																																					p.R1011Q													.	.			0			c.G3032A												251	238	243					19																	10254526		2203	4300	6503	SO:0001583	missense	1786	exon29			TTGATCCGGCCAA	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.2984G>A	19.37:g.10254526C>T	ENSP00000345739:p.Arg995Gln		277	0	0		337	0.21	72	NM_001130823	126	0.23	29	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999526	0.74818	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.86865	-2.18;-2.18;-2.18	5.91	3.78	0.43462	Bromo adjacent homology (BAH) domain (3);	0.051434	0.85682	D	0.000000	D	0.85366	0.5680	M	0.65498	2.005	0.54753	D	0.999988	P;P;P	0.52061	0.938;0.87;0.95	B;B;P	0.44732	0.329;0.245;0.459	T	0.83099	-0.0129	10	0.22706	T	0.39	-22.2465	12.2361	0.54516	0.0:0.8576:0.0:0.1424	.	995;1011;995	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	Q	1011;995;995;863	ENSP00000352516:R1011Q;ENSP00000440457:R995Q;ENSP00000345739:R995Q	ENSP00000345739:R995Q	R	-	2	0	DNMT1	10115526	1.000000	0.71417	0.839000	0.33178	0.948000	0.59901	6.005000	0.70716	1.509000	0.48786	0.655000	0.94253	CGG			0.542	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451166.1		NM_001379		T	10254526	C	T	10254526	3	4	54	1	0	0	0	0	1	0	0	0	4680	652	23	1	1918	1	DNMT1	19	10254526	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10		10254526	48874457	79	3888											
CCDC124	115098	mdanderson.org	37	chr19	18054150	18054150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaggagggcagcgtggagGcgcgcaccatcgaggacgcc	8	3	19	11	5	0	0	0	0	0	0	1	5	0	4	2	6	1	2	2	6	0	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr19:18054150G>T	ENST00000597436.1	+	4	537	c.430G>T	c.(430-432)Gcg>Tcg	p.A144S	CCDC124_ENST00000445755.2_Missense_Mutation_p.A144S	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	144					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						CAGCGTGGAGGCGCGCACCAT	0.697																																					p.A144S													.	.			0			c.G430T												19	19	19					19																	18054150		2188	4283	6471	SO:0001583	missense	115098	exon4			GTGGAGGCGCGCA	BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.430G>T	19.37:g.18054150G>T	ENSP00000471455:p.Ala144Ser		21	0	0		32	0.09	3	NM_001136203	411	0	0		Missense_Mutation	SNP	ENST00000597436.1	37	CCDS12369.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035265	0.93630	.	.	ENSG00000007080	ENST00000445755	T	0.66460	-0.21	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.85531	0.5718	H	0.94542	3.55	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.89961	0.4086	10	0.87932	D	0	-16.3539	15.1402	0.72604	0.0:0.0:1.0:0.0	.	144	Q96CT7	CC124_HUMAN	S	144	ENSP00000408730:A144S	ENSP00000408730:A144S	A	+	1	0	CCDC124	17915150	1.000000	0.71417	0.996000	0.52242	0.593000	0.36681	8.976000	0.93442	2.147000	0.66899	0.491000	0.48974	GCG			0.697	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466484.1		NM_138442		T	18054150	G	T	18054150	3	4	54	1	0	0	0	0	1	0	0	0	2762	1203	42	2	440	2	CCDC124	19	18054150	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	7799624	18054150	41074833	80	3889											
GATAD2A	54815	broad.mit.edu	37	chr19	19606951	19606951	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcccagtgtgcagattcagGgacagaggatcatccagcag	11	7	13	10	0	2	2	2	0	0	2	3	4	3	4	2	2	3	2	2	2	0	1			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr19:19606951G>T	ENST00000360315.3	+	7	1159	c.847G>T	c.(847-849)Gga>Tga	p.G283*	GATAD2A_ENST00000252577.5_Nonsense_Mutation_p.G283*|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000358713.3_Nonsense_Mutation_p.G283*|GATAD2A_ENST00000404158.1_Nonsense_Mutation_p.G283*|GATAD2A_ENST00000429563.2_Nonsense_Mutation_p.G110*	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	283					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCAGATTCAGGGACAGAGGAT	0.632																																					p.G283X													GATAD2A_ENST00000360315,right_lower_lobe,carcinoma,0,2	GATAD2A	81	2	0			c.G847T												98	80	86					19																	19606951		2203	4300	6503	SO:0001587	stop_gained	54815	exon7			ATTCAGGGACAGA	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.847G>T	19.37:g.19606951G>T	ENSP00000353463:p.Gly283*		84	0	0		100	0.05	5	NM_017660	238	0	0	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Nonsense_Mutation	SNP	ENST00000360315.3	37	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	41	8.654934	0.98901	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-22.8385	18.2855	0.90113	0.0:0.0:1.0:0.0	.	.	.	.	X	283;283;302;283;110	.	ENSP00000252577:G283X	G	+	1	0	GATAD2A	19467951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.194000	0.94962	2.664000	0.90586	0.655000	0.94253	GGA			0.632	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000326671.4		NM_017660		T	19606951	G	T	19606951	4	4	54	1	0	0	0	0	0	1	0	0	6274	1233	43	3	869	3	GATAD2A	19	19606951	Nonsense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	1552801	19606951	39522032	81	3890											
ZNF708	7562	mdanderson.org	37	chr19	21476977	21476977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtttagtaaggtttgagGaccggttaaaagctttgcca	11	14	11	5	1	0	1	0	1	0	0	0	2	0	2	2	3	2	5	2	3	5	7			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr19:21476977G>T	ENST00000356929.3	-	4	988	c.791C>A	c.(790-792)tCc>tAc	p.S264Y		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	200					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(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AAGGTTTGAGGACCGGTTAAA	0.358																																					p.S264Y													.	.			0			c.C791A												45	49	48					19																	21476977		2160	4279	6439	SO:0001583	missense	7562	exon4			TTTGAGGACCGGT	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.791C>A	19.37:g.21476977G>T	ENSP00000349401:p.Ser264Tyr		43	0	0		30	0.1	3	NM_021269	6	0	0	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.618780	0.00118	.	.	ENSG00000182141	ENST00000356929	T	0.07908	3.15	1.05	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06188	0.0160	M	0.71581	2.175	0.09310	N	1	B	0.31893	0.345	B	0.26310	0.068	T	0.47459	-0.9116	9	0.07325	T	0.83	.	0.621	0.00778	0.1875:0.3287:0.2088:0.2751	.	264	P17019	ZN708_HUMAN	Y	264	ENSP00000349401:S264Y	ENSP00000349401:S264Y	S	-	2	0	ZNF708	21268817	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.742000	0.01835	-1.500000	0.01819	-1.523000	0.00931	TCC			0.358	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463953.1		NM_021269		T	21476977	G	T	21476977	3	4	54	1	0	0	0	0	1	0	0	0	18135	1174	41	3	904	3	ZNF708	19	21476977	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	1870026	21476977	37652006	82	3891											
LYPD3	27076	mdanderson.org	37	chr19	43967294	43967294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgccgtcaaggtgacGttgccgtcgaagcagccctt	7	9	11	14	4	2	1	2	1	0	0	3	2	2	1	4	1	4	2	4	1	2	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr19:43967294G>A	ENST00000244333.3	-	4	616	c.528C>T	c.(526-528)aaC>aaT	p.N176N		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	176	UPAR/Ly6 2.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				TCAAGGTGACGTTGCCGTCGA	0.652																																					p.N176N													.	.			0			c.C528T												96	85	89					19																	43967294		2203	4300	6503	SO:0001819	synonymous_variant	27076	exon4			GGTGACGTTGCCG	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.528C>T	19.37:g.43967294G>A			53	0	0		39	0.08	3	NM_014400	26	0	0	Q9UJ74	Silent	SNP	ENST00000244333.3	37	CCDS12620.1																																																																																					0.652	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463177.1		NM_014400		A	43967294	G	A	43967294	2	1	54	1	0	0	0	0	0	0	0	1	9127	1136	40	1		1	LYPD3	19	43967294	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	22490317	43967294	15161689	83	3892											
RBL1	5933	broad.mit.edu	37	chr20	35627253	35627253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtttggcaggggattctGcatcactatcgatggctatt	7	13	12	9	3	2	0	1	0	1	0	3	2	2	1	0	4	1	4	0	4	2	5			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr20:35627253G>T	ENST00000373664.3	-	22	3182	c.3116C>A	c.(3115-3117)gCa>gAa	p.A1039E		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	1039					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGGGGATTCTGCATCACTATC	0.408																																					p.A1039E													.	RBL1	114		0			c.C3116A												251	207	222					20																	35627253		2203	4300	6503	SO:0001583	missense	5933	exon22			GATTCTGCATCAC	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.3116C>A	20.37:g.35627253G>T	ENSP00000362768:p.Ala1039Glu		132	0.0075757576	1		167	0.03	5	NM_002895	16	0	0	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	9.369	1.069911	0.20147	.	.	ENSG00000080839	ENST00000373664	D	0.83591	-1.74	4.94	1.95	0.26073	Rb C-terminal (1);	0.427321	0.22562	N	0.058460	T	0.69115	0.3075	N	0.22421	0.69	0.80722	D	1	B	0.20459	0.045	B	0.29176	0.099	T	0.52563	-0.8559	10	0.13853	T	0.58	-0.419	8.1669	0.31233	0.143:0.1302:0.7268:0.0	.	1039	P28749	RBL1_HUMAN	E	1039	ENSP00000362768:A1039E	ENSP00000362768:A1039E	A	-	2	0	RBL1	35060667	1.000000	0.71417	0.980000	0.43619	0.173000	0.22820	3.959000	0.56744	0.286000	0.22352	-0.218000	0.12543	GCA			0.408	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079067.2		NM_002895		T	35627253	G	T	35627253	3	4	54	1	0	0	0	0	1	0	0	0	13132	1319	46	2	94	2	RBL1	20	35627253	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10		35627253	27398267	84	3893											
LAMA5	3911	bcgsc.ca	37	chr20	60886012	60886012	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgggcgcggagccgagtCccgaggccttccatctgtgc	4	8	14	15	4	2	0	0	0	2	0	4	3	4	1	4	3	2	0	4	3	0	1			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr20:60886012C>A	ENST00000252999.3	-	74	10293	c.10227G>T	c.(10225-10227)ggG>ggT	p.G3409G	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3409	Laminin G-like 4. {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)			GGAGCCGAGTCCCGAGGCCTT	0.701																																					p.G3409G													.	LAMA5	268		0			c.G10227T												14	18	17					20																	60886012		2161	4238	6399	SO:0001819	synonymous_variant	3911	exon74			CCGAGTCCCGAGG	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.10227G>T	20.37:g.60886012C>A			74	0	0		91	0	0	NM_005560	148	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																					0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		A	60886012	C	A	60886012	2	1	54	1	0	0	0	0	0	0	0	1	8624	842	30	3		3	LAMA5	20	60886012	Silent	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	25258759	60886012	2139508	85	3894											
BRWD1	54014	bcgsc.ca	37	chr21	40582800	40582800	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagttccttacactgtttcTtccagttgctttcaacatag	8	17	5	11	0	2	0	1	0	1	0	4	0	4	0	2	0	3	4	2	0	4	8			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr21:40582800T>C	ENST00000333229.2	-	35	4283	c.3956A>G	c.(3955-3957)aAg>aGg	p.K1319R	BRWD1_ENST00000380800.3_Missense_Mutation_p.K1319R|BRWD1_ENST00000342449.3_Missense_Mutation_p.K1319R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1319					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)				ACACTGTTTCTTCCAGTTGCT	0.348																																					p.K1319R	Melanoma(170;988 1986 4794 16843 39731)												.	BRWD1	325		0			c.A3956G												118	108	112					21																	40582800		2203	4300	6503	SO:0001583	missense	54014	exon35			TGTTTCTTCCAGT	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.3956A>G	21.37:g.40582800T>C	ENSP00000330753:p.Lys1319Arg		145	0	0		124	0	0	NM_018963	6	0	0	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956248	0.34565	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.18502	2.21;2.21;2.21	5.36	1.69	0.24217	Bromodomain (3);	0.331353	0.28572	N	0.014875	T	0.09992	0.0245	L	0.37850	1.14	0.36369	D	0.861171	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.26292	-1.0107	10	0.15499	T	0.54	-2.779	4.126	0.10128	0.1398:0.227:0.0:0.6332	.	1319;1319	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	R	1319	ENSP00000330753:K1319R;ENSP00000344333:K1319R;ENSP00000370178:K1319R	ENSP00000330753:K1319R	K	-	2	0	BRWD1	39504670	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.374000	0.44274	0.104000	0.17725	0.477000	0.44152	AAG			0.348	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000141398.3		NM_033656		C	40582800	T	C	40582800	3	2	54	1	0	0	0	0	1	0	0	0	1527	1609	56	4	3277	4	BRWD1	21	40582800	Missense_Mutation	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10		40582800	7547095	86	3895											
BRD1	23774	mdanderson.org	37	chr22	50217264	50217264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccaggttgcacatgtcGcagaagaggatcacgttgct	10	8	13	10	3	1	2	1	0	0	2	2	3	1	3	1	3	2	5	1	3	1	2			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr22:50217264G>A	ENST00000216267.8	-	1	1188	c.702C>T	c.(700-702)tgC>tgT	p.C234C	BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Silent_p.C234C|BRD1_ENST00000404034.1_Silent_p.C234C|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000457780.2_Silent_p.C234C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	234					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCACATGTCGCAGAAGAGGA	0.652																																					p.C234C													.	.			0			c.C702T												52	42	46					22																	50217264		2203	4300	6503	SO:0001819	synonymous_variant	23774	exon1			CATGTCGCAGAAG	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.702C>T	22.37:g.50217264G>A			38	0	0		51	0.06	3	NM_014577	13	0	0	A6ZJA4	Silent	SNP	ENST00000216267.8	37	CCDS14080.1																																																																																					0.652	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317402.1		NM_014577		A	50217264	G	A	50217264	2	1	54	1	0	0	0	0	0	0	0	1	1503	1079	38	1		1	BRD1	22	50217264	Silent	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10		50217264	1087302	87	3896											
MIOX	55586	mdanderson.org	37	chr22	50927708	50927708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcgacagggtcctcatGtcctggggccatgatggtga	6	9	16	10	1	1	2	1	2	0	0	4	3	3	2	3	5	0	1	3	5	0	0			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chr22:50927708G>T	ENST00000216075.6	+	7	644	c.570G>T	c.(568-570)atG>atT	p.M190I	MIOX_ENST00000395733.3_Missense_Mutation_p.C201F|MIOX_ENST00000395732.3_Missense_Mutation_p.M190I	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	190					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTCCTCATGTCCTGGGGCC	0.697																																					p.M190I													.	.			0			c.G570T												25	22	23					22																	50927708		2200	4296	6496	SO:0001583	missense	55586	exon7			CCTCATGTCCTGG	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.570G>T	22.37:g.50927708G>T	ENSP00000216075:p.Met190Ile		30	0	0		47	0.06	3	NM_017584	0		0	Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	CCDS14092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.84|18.84	3.709057|3.709057	0.68615|0.68615	.|.	.|.	ENSG00000100253|ENSG00000100253	ENST00000395733|ENST00000216075;ENST00000395732;ENST00000451761	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67496|0.67496	0.2899|0.2899	L|L	0.53780|0.53780	1.695|1.695	0.58432|0.58432	D|D	0.999999|0.999999	D|P;P	0.89917|0.50443	1.0|0.935;0.714	D|P;P	0.91635|0.58928	0.999|0.848;0.482	T|T	0.68006|0.68006	-0.5523|-0.5523	8|9	0.24483|0.49607	T|T	0.36|0.09	-0.6686|-0.6686	13.7972|13.7972	0.63177|0.63177	0.0:0.1548:0.8451:0.0|0.0:0.1548:0.8451:0.0	.|.	201|190;190	Q9UGB7-2|A6PVH2;Q9UGB7	.|.;MIOX_HUMAN	F|I	201|190;190;170	.|.	ENSP00000379082:C201F|ENSP00000216075:M190I	C|M	+|+	2|3	0|0	MIOX|MIOX	49274574|49274574	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.723000|0.723000	0.41478|0.41478	6.878000|6.878000	0.75567|0.75567	2.392000|2.392000	0.81423|0.81423	0.556000|0.556000	0.70494|0.70494	TGT|ATG			0.697	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316835.1		NM_017584		T	50927708	G	T	50927708	3	4	54	1	0	0	0	0	1	0	0	0	9606	1377	48	3	596	3	MIOX	22	50927708	Missense_Mutation	SNP	G	TCGA-2G-AAHP-01A-12D-A42Y-10	710444	50927708	376858	88	3897											
CNKSR2	22866	bcgsc.ca	37	chrX	21519642	21519642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatattaaattcagtcacCtgcagatcggtgcaagaaaa	15	12	7	7	1	2	2	2	0	0	2	3	2	2	2	1	1	2	2	1	1	7	5			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chrX:21519642C>T	ENST00000379510.3	+	8	782	c.746C>T	c.(745-747)cCt>cTt	p.P249L	CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249L|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P249L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	249	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATTCAGTCACCTGCAGATCGG	0.348																																					p.P249L													.	CNKSR2	158		0			c.C746T												47	44	45					X																	21519642		2202	4299	6501	SO:0001583	missense	22866	exon8			AGTCACCTGCAGA	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.746C>T	X.37:g.21519642C>T	ENSP00000368824:p.Pro249Leu		206	0	0		234	0	0	NM_001168647	0		0	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667907	0.67814	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.98	5.09	0.68999	PDZ/DHR/GLGF (4);	0.057904	0.64402	D	0.000001	T	0.59128	0.2171	H	0.95437	3.67	0.80722	D	1	B;B;B	0.32128	0.105;0.151;0.357	B;B;P	0.44921	0.211;0.168;0.464	T	0.67417	-0.5676	10	0.56958	D	0.05	-18.6417	15.6383	0.76973	0.1375:0.8625:0.0:0.0	.	249;249;249	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	L	249	ENSP00000397906:P249L;ENSP00000444633:P249L;ENSP00000279451:P249L;ENSP00000368824:P249L	ENSP00000279451:P249L	P	+	2	0	CNKSR2	21429563	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.174000	0.58256	2.524000	0.85096	0.544000	0.68410	CCT			0.348	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056019.1		NM_014927		T	21519642	C	T	21519642	3	4	54	1	0	0	0	0	1	0	0	0	3609	681	24	3	776	3	CNKSR2	23	21519642	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10		21519642	133750918	89	3898											
ZXDB	158586	mdanderson.org	37	chrX	57618621	57618621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgccgcctcctgctgcTccggggcccccaagatggcg	4	5	13	19	5	0	1	0	0	0	1	2	1	2	1	6	3	2	2	6	3	1	0	rs368802496		TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chrX:57618621T>C	ENST00000374888.1	+	1	353	c.140T>C	c.(139-141)cTc>cCc	p.L47P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	47					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)	p.L47P(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTCCTGCTGCTCCGGGGCCCC	0.786																																					p.L47P													.	.			1	Substitution - Missense(1)	skin(1)	c.T140C																																									SO:0001583	missense	158586	exon1			TGCTGCTCCGGGG	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.140T>C	X.37:g.57618621T>C	ENSP00000364023:p.Leu47Pro		17	0	0		12	0.17	2	NM_007157	0		0	A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	5.023	0.189870	0.09547	.	.	ENSG00000198455	ENST00000374888	T	0.46451	0.87	2.43	2.43	0.29744	.	0.229752	0.27966	N	0.017140	T	0.32255	0.0823	L	0.52573	1.65	0.49582	D	0.999801	B	0.02656	0.0	B	0.04013	0.001	T	0.10941	-1.0608	10	0.27082	T	0.32	.	7.9262	0.29876	0.0:0.0:0.0:1.0	.	47	P98169	ZXDB_HUMAN	P	47	ENSP00000364023:L47P	ENSP00000364023:L47P	L	+	2	0	ZXDB	57635346	0.000000	0.05858	0.900000	0.35374	0.074000	0.17049	-0.375000	0.07475	1.201000	0.43203	0.393000	0.25936	CTC			0.786	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056922.1		NM_007157		C	57618621	T	C	57618621	3	2	54	1	0	0	0	0	1	0	0	0	18274	1551	54	4	142	4	ZXDB	23	57618621	Missense_Mutation	SNP	T	TCGA-2G-AAHP-01A-12D-A42Y-10	36098979	57618621	97651939	90	3899											
DOCK11	139818	bcgsc.ca	37	chrX	117680026	117680026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagggtggtgtgataaaaCaaggctggttgcataaagca	15	8	14	4	0	0	2	0	1	0	1	0	2	0	2	0	4	3	4	0	4	6	3			TCGA-2G-AAHP-01A-12D-A42Y-10	TCGA-2G-AAHP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a1cc9688-b055-48ba-a634-7f51a8df3220	6cc28f85-5c08-46da-89e5-536025497482	g.chrX:117680026C>G	ENST00000276202.7	+	6	568	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	DOCK11_ENST00000276204.6_Missense_Mutation_p.Q169E	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	169	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TGTGATAAAACAAGGCTGGTT	0.348																																					p.Q169E													.	DOCK11	185		0			c.C505G												147	123	131					X																	117680026		2203	4300	6503	SO:0001583	missense	139818	exon6			ATAAAACAAGGCT	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.505C>G	X.37:g.117680026C>G	ENSP00000276202:p.Gln169Glu		73	0	0		59	0	0	NM_144658	1	0	0	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699608	0.30142	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.72835	-0.69;-0.69	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	N	0.17564	0.495	0.58432	D	0.999998	B	0.33583	0.418	B	0.39617	0.305	T	0.55360	-0.8153	10	0.02654	T	1	-0.3626	16.5446	0.84426	0.0:1.0:0.0:0.0	.	169	Q5JSL3	DOC11_HUMAN	E	169	ENSP00000276204:Q169E;ENSP00000276202:Q169E	ENSP00000276202:Q169E	Q	+	1	0	DOCK11	117564054	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.970000	0.76099	2.162000	0.67917	0.600000	0.82982	CAA			0.348	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000356002.1		NM_144658		G	117680026	C	G	117680026	3	3	54	1	0	0	0	0	1	0	0	0	4691	479	17	5	527	5	DOCK11	23	117680026	Missense_Mutation	SNP	C	TCGA-2G-AAHP-01A-12D-A42Y-10	60061405	117680026	37590534	91	3900											
PRDM2	7799	broad.mit.edu	37	chr1	14105106	14105106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggaagaggaggaggaGgaagaggaggaggatgaaga	15	3	23	0	0	0	4	0	1	0	3	0	12	0	12	0	9	0	0	0	9	3	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr1:14105106G>A	ENST00000235372.7	+	8	1672	c.816G>A	c.(814-816)gaG>gaA	p.E272E	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.E71E|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.E272E|PRDM2_ENST00000413440.1_Silent_p.E71E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	272	Asp/Glu-rich (acidic).				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)		aggaggaggaggaagaggagg	0.517																																					p.E272E													.	PRDM2	147		0			c.G816A												47	49	48					1																	14105106		2203	4300	6503	SO:0001819	synonymous_variant	7799	exon8			GGAGGAGGAAGAG	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.816G>A	1.37:g.14105106G>A			148	0	0		193	0.03	5	NM_015866	7	0	0	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																					0.517	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000021792.2		NM_012231		A	14105106	G	A	14105106	2	1	55	1	0	0	0	0	0	0	0	1	12478	991	35	3		3	PRDM2	1	14105106	Silent	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10		14105106	235145515	1	3901											
C1orf94	84970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	34643423	34643423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttgtgttctagccctGggtggacagaggggcttcca	5	11	17	8	0	1	1	0	0	1	1	2	2	2	2	2	6	1	3	2	6	1	4			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr1:34643423G>A	ENST00000488417.1	+	1	153	c.33G>A	c.(31-33)ctG>ctA	p.L11L	AC115286.1_ENST00000408126.1_RNA|C1orf94_ENST00000373374.3_Intron	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	11										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TTCTAGCCCTGGGTGGACAGA	0.617																																					p.L11L													.	.			0			c.G33A												8	10	9					1																	34643423		691	1588	2279	SO:0001819	synonymous_variant	84970	exon1			AGCCCTGGGTGGA	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.33G>A	1.37:g.34643423G>A			75	0	0		99	0.2	20	NM_001134734	0		0	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	CCDS44108.1																																																																																					0.617	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036845.2		NM_032884		A	34643423	G	A	34643423	2	1	55	1	0	0	0	0	0	0	0	1	2073	1335	47	3		3	C1orf94	1	34643423	Silent	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	20538317	34643423	214607198	2	3902											
ELAVL4	1996	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	50642764	50642765	+	Frame_Shift_Del	DEL	AG	AG	-																															ttttaatatttccacaggacAgagtttagggtatggatttg																										TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr1:50642764_50642765delAG	ENST00000371823.4	+	3	478_479	c.254_255delAG	c.(253-255)cagfs	p.Q85fs	ELAVL4_ENST00000371819.1_Frame_Shift_Del_p.Q90fs|ELAVL4_ENST00000371824.1_Frame_Shift_Del_p.Q85fs|ELAVL4_ENST00000448907.2_Frame_Shift_Del_p.Q88fs|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371821.1_Frame_Shift_Del_p.Q90fs|ELAVL4_ENST00000371827.1_Frame_Shift_Del_p.Q85fs|ELAVL4_ENST00000357083.4_Frame_Shift_Del_p.Q102fs|RP11-567C20.2_ENST00000442477.1_RNA	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	85	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCCACAGGACAGAGTTTAGGGT	0.401																																					p.102_102del													ELAVL4_ENST00000357083,NS,carcinoma,0,2	ELAVL4	124		0			c.304_305del																																									SO:0001589	frameshift_variant	1996	exon3			CAGGACAGAGTTT	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.254_255delAG	1.37:g.50642766_50642767delAG	ENSP00000360888:p.Gln85fs		72	0	0		73	0.18	13	NM_001144775	0		0	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Frame_Shift_Del	DEL	ENST00000371823.4	37	CCDS553.1																																																																																					0.401	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000021712.1		NM_021952		-	50642765	AG	-	50642764	7	5	55	1	0	1	0	1	0	0	0	0	5059	188	7	0	363	0	ELAVL4	1	50642764	Frame_Shift_Del	DEL	AG	TCGA-2G-AAHT-01A-11D-A42Y-10	15999341	50642764	198607857	3	3903											
PRPF38B	55119	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	109241987	109241989	+	In_Frame_Del	DEL	GCA	GCA	-																															ccgggggttagaacgcaggcGcagcagaagtagggaaaggc																										TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	GCA	GCA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr1:109241987_109241989delGCA	ENST00000370025.4	+	6	1255_1257	c.986_988delGCA	c.(985-990)cgcagc>cgc	p.S330del	PRPF38B_ENST00000370021.1_In_Frame_Del_p.S219del	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	330	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R329H(1)		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)		GAACGCAGGCGCAGCAGAAGTAG	0.507																																					p.329_329del													.	PRPF38B	55		1	Substitution - Missense(1)	large_intestine(1)	c.985_987del																																									SO:0001651	inframe_deletion	55119	exon6			GCAGGCGCAGCAG	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.986_988delGCA	1.37:g.109241990_109241992delGCA	ENSP00000359042:p.Ser330del		156	0	0		184	0.23	43	NM_018061	212	0	0	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	In_Frame_Del	DEL	ENST00000370025.4	37	CCDS788.1																																																																																					0.507	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030231.1		NM_018061		-	109241989	GCA	-	109241987	7	5	55	1	0	1	0	1	0	0	0	0	12588	1087	38	0	1008	0	PRPF38B	1	109241987	In_Frame_Del	DEL	GCA	TCGA-2G-AAHT-01A-11D-A42Y-10	58599223	109241987	140008634	4	3904											
FLG2	388698	bcgsc.ca	37	chr1	152327658	152327658	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttgtccaaagccagaTgtctgtcccgaacttgaccc	8	11	9	13	1	1	2	0	1	1	1	3	3	3	2	4	0	2	1	4	0	2	2	rs12724005	byFrequency	TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr1:152327658T>A	ENST00000388718.5	-	3	2676	c.2604A>T	c.(2602-2604)acA>acT	p.T868T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	868	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)			CAAAGCCAGATGTCTGTCCCG	0.498													T|||	225	0.0449281	8e-04	0.0749	5008	,	,		23493	0.1071		0.007	False		,,,				2504	0.0583				p.T868T													.	FLG2	431		0			c.A2604T												380	327	345					1																	152327658		2201	4283	6484	SO:0001819	synonymous_variant	388698	exon3			GCCAGATGTCTGT	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.2604A>T	1.37:g.152327658T>A			86	0.011627907	1		47	0.19	9	NM_001014342	0		0	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																					0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034018.5		NM_001014342		A	152327658	T	A	152327658	2	1	55	1	0	0	0	0	0	0	0	1	5936	1451	51	5		5	FLG2	1	152327658	Silent	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10	43085671	152327658	96922963	5	3905											
PLEKHA6	22874	mdanderson.org	37	chr1	204210552	204210552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcattccttcttaccactGctgatggggtcacctcatca	7	13	8	13	0	4	1	3	1	1	0	5	1	5	1	3	3	2	2	3	3	1	3			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr1:204210552G>T	ENST00000272203.3	-	17	2676	c.2360C>A	c.(2359-2361)gCa>gAa	p.A787E	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A807E	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	787										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)			TCTTACCACTGCTGATGGGGT	0.597																																					p.A787E													.	.			0			c.C2360A												47	39	42					1																	204210552		2203	4300	6503	SO:0001583	missense	22874	exon17			ACCACTGCTGATG	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.2360C>A	1.37:g.204210552G>T	ENSP00000272203:p.Ala787Glu		39	0	0		54	0.06	3	NM_014935	1	0	0	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	6.927	0.540807	0.13250	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.10005	2.92;3.38	5.7	1.74	0.24563	.	1.477610	0.03950	N	0.288325	T	0.11965	0.0291	L	0.40543	1.245	0.09310	N	1	B	0.18741	0.03	B	0.18561	0.022	T	0.37244	-0.9714	10	0.66056	D	0.02	1.8226	7.5591	0.27841	0.0733:0.4828:0.3457:0.0982	.	787	Q9Y2H5	PKHA6_HUMAN	E	787;807	ENSP00000272203:A787E;ENSP00000402046:A807E	ENSP00000272203:A787E	A	-	2	0	PLEKHA6	202477175	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.792000	0.26929	0.068000	0.16574	-0.140000	0.14226	GCA			0.597	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087889.3		NM_014935		T	204210552	G	T	204210552	3	4	55	1	0	0	0	0	1	0	0	0	12077	1319	46	2	810	2	PLEKHA6	1	204210552	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	51882894	204210552	45040069	6	3906											
CEBPZ	10153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	37450403	37450403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacatataaatggtggcatCtgttgacaagtaacttgaag	14	11	9	7	0	1	2	0	2	1	0	1	2	1	2	1	2	1	3	1	2	6	5			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr2:37450403C>G	ENST00000234170.5	-	3	1936	c.1791G>C	c.(1789-1791)caG>caC	p.Q597H		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	597					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATGGTGGCATCTGTTGACAAG	0.388																																					p.Q597H													.	.			0			c.G1791C												130	128	129					2																	37450403		2203	4300	6503	SO:0001583	missense	10153	exon3			TGGCATCTGTTGA	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1791G>C	2.37:g.37450403C>G	ENSP00000234170:p.Gln597His		116	0	0		146	0.16	23	NM_005760	265	0.23	61	Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604616	0.28623	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.12879	2.64	5.46	2.65	0.31530	Armadillo-type fold (1);CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.31578	0.945	0.47009	D	0.999281	D	0.61697	0.99	P	0.62885	0.908	T	0.01165	-1.1431	10	0.87932	D	0	.	7.4302	0.27124	0.1101:0.5909:0.0:0.299	.	597	Q03701	CEBPZ_HUMAN	H	597	ENSP00000234170:Q597H	ENSP00000234170:Q597H	Q	-	3	2	CEBPZ	37303907	0.999000	0.42202	0.995000	0.50966	0.682000	0.39822	0.710000	0.25748	0.089000	0.17243	-1.598000	0.00824	CAG			0.388	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000218569.2		NM_005760		G	37450403	C	G	37450403	3	3	55	1	0	0	0	0	1	0	0	0	3206	912	32	5	1429	5	CEBPZ	2	37450403	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10		37450403	205748970	7	3907											
EPM2AIP1	9852	mdanderson.org	37	chr3	37034271	37034271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagagcccgaggcctgCacgagcagctctctcttcag	7	6	13	15	3	3	1	1	0	2	1	4	3	3	1	2	2	4	4	2	2	0	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr3:37034271C>A	ENST00000322716.5	-	1	524	c.298G>T	c.(298-300)Gca>Tca	p.A100S	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	100					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CCGAGGCCTGCACGAGCAGCT	0.657																																					p.A100S													.	.			0			c.G298T												60	67	65					3																	37034271		1949	4153	6102	SO:0001583	missense	9852	exon1			GGCCTGCACGAGC	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.298G>T	3.37:g.37034271C>A	ENSP00000406027:p.Ala100Ser		30	0	0		53	0.06	3	NM_014805	1	0	0	O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099338	0.76983	.	.	ENSG00000178567	ENST00000322716	T	0.17691	2.26	5.26	5.26	0.73747	.	.	.	.	.	T	0.32585	0.0834	L	0.40543	1.245	0.35862	D	0.827583	D	0.76494	0.999	D	0.83275	0.996	T	0.14117	-1.0484	9	0.46703	T	0.11	-15.268	14.2504	0.66016	0.0:1.0:0.0:0.0	.	100	Q7L775	EPMIP_HUMAN	S	100	ENSP00000406027:A100S	ENSP00000406027:A100S	A	-	1	0	EPM2AIP1	37009275	0.991000	0.36638	0.954000	0.39281	0.973000	0.67179	3.165000	0.50778	2.735000	0.93741	0.563000	0.77884	GCA			0.657	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000470593.1		NM_014805		A	37034271	C	A	37034271	3	1	55	1	0	0	0	0	1	0	0	0	5191	710	25	2	1529	2	EPM2AIP1	3	37034271	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10		37034271	160988159	8	3908											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55593605	55593605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccatgtatgaagtacagtgGaaggttgttgaggagataaa	14	10	13	4	0	0	3	0	2	0	1	0	5	0	4	1	3	1	4	1	3	6	5	rs121913511|rs121913234|rs121913510		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr4:55593605G>T	ENST00000288135.5	+	11	1768	c.1671G>T	c.(1669-1671)tgG>tgT	p.W557C		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	557			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:15824741, ECO:0000269|PubMed:9438854}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W557_K558del(120)|p.W557_V559>F(18)|p.W557_E561del(17)|p.W557_V559>C(9)|p.Y553_K558>(8)|p.E554_K558del(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.Q556_V560del(6)|p.M552_W557del(6)|p.Y553_K558del(4)|p.W557del(4)|p.V555_K558del(3)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.W557_K558>CP(3)|p.W557_K558>E(2)|p.Q556_L576del(2)|p.K550_V559del(2)|p.W557_Q575del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.W557_P573>S(2)|p.W557_K558>FP(1)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.W557_K558>C(1)|p.Q556_W557del(1)|p.P551_K558del(1)|p.Q556_V559>H(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.W557_K558>S(1)|p.Q556_K558>HPCR(1)|p.E554_I571del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.W557_K558>SS(1)|p.Q556_D572>PS(1)|p.Y553_W557del(1)|p.Q556_D572del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V555_V560>V(1)|p.W557*(1)|p.Q556_V560>HNLQLY(1)|p.W557_K558>CT(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.W557C(1)|p.Q556_K558>H(1)|p.Q556_E561>HH(1)|p.W557_V560>F(1)|p.W557_I571del(1)|p.Q556_K558>R(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.K550_W557del(1)|p.Q556_D572>H(1)|p.W557_V559>I(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGTACAGTGGAAGGTTGTTG	0.388		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.W557C			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,germ_cell_tumour,+2,59	KIT	2	59	308	Deletion - In frame(229)|Complex - deletion inframe(66)|Complex - compound substitution(6)|Complex - insertion inframe(3)|Deletion - Frameshift(2)|Substitution - Nonsense(1)|Substitution - Missense(1)	soft_tissue(303)|haematopoietic_and_lymphoid_tissue(2)|genital_tract(1)|testis(1)|skin(1)	c.G1671T												80	82	81					4																	55593605		2203	4300	6503	SO:0001583	missense	3815	exon11	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	ACAGTGGAAGGTT	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1671G>T	4.37:g.55593605G>T	ENSP00000288135:p.Trp557Cys		122	0	0		266	0.11	28	NM_000222	622	0.16	100	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432207	0.83776	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.95724	-3.79;-3.79	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000016	D	0.98157	0.9391	M	0.87617	2.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.991	D	0.98281	1.0508	10	0.87932	D	0	.	20.613	0.99472	0.0:0.0:1.0:0.0	.	64;553;557	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	C	557;553	ENSP00000288135:W557C;ENSP00000390987:W553C	ENSP00000288135:W557C	W	+	3	0	KIT	55288362	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.667000	0.98616	2.876000	0.98609	0.655000	0.94253	TGG			0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55593605	G	T	55593605	3	4	55	1	0	0	0	0	1	0	0	0	8344	1183	41	3	1713	3	KIT	4	55593605	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10		55593605	135560671	9	3909											
MTHFD2L	441024	broad.mit.edu	37	chr4	75067012	75067012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggaaaaaatgtggttgtgGctggaagatccaagaacgta	14	10	13	4	1	0	2	0	0	0	2	1	4	1	4	1	4	1	3	1	4	7	3			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr4:75067012G>T	ENST00000395759.2	+	5	664	c.637G>T	c.(637-639)Gct>Tct	p.A213S	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.A155S|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.A155S|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.A78S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	213					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)			TGTGGTTGTGGCTGGAAGATC	0.403																																					p.A213S													.	MTHFD2L	41		0			c.G637T												98	95	96					4																	75067012		2203	4300	6503	SO:0001583	missense	441024	exon5			GTTGTGGCTGGAA	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.637G>T	4.37:g.75067012G>T	ENSP00000379108:p.Ala213Ser		143	0	0		138	0.03	4	NM_001144978	1	0	0	Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103542	0.94245	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.97	5.97	0.96955	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.093875	0.64402	D	0.000001	T	0.70527	0.3234	M	0.80847	2.515	0.43930	D	0.996581	P;P	0.44429	0.835;0.735	P;P	0.53518	0.728;0.624	T	0.72969	-0.4130	10	0.87932	D	0	-26.6548	17.9263	0.88985	0.0:0.0:1.0:0.0	.	213;155	Q9H903;Q9H903-3	MTD2L_HUMAN;.	S	78;213;155;155;155	ENSP00000405692:A78S;ENSP00000379108:A213S;ENSP00000330982:A155S;ENSP00000352012:A155S;ENSP00000321984:A155S	ENSP00000321984:A155S	A	+	1	0	MTHFD2L	75285876	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.314000	0.96306	2.833000	0.97629	0.585000	0.79938	GCT			0.403	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001004346		T	75067012	G	T	75067012	3	4	55	1	0	0	0	0	1	0	0	0	9946	1203	42	2	655	2	MTHFD2L	4	75067012	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	19473407	75067012	116087264	10	3910											
DSPP	1834	bcgsc.ca	37	chr4	88537114	88537114	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgacagcagcgatagcagCgacagcagcgacagcagcga	14	2	14	11	4	0	1	0	1	0	0	0	5	0	1	0	0	8	4	0	0	1	1	rs369973717	byFrequency	TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr4:88537114C>T	ENST00000282478.7	+	4	3333	c.3300C>T	c.(3298-3300)agC>agT	p.S1100S	DSPP_ENST00000399271.1_Silent_p.S1100S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1100	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcgatagcagcgacagcagcg	0.547													T|||	2077	0.414736	0.5416	0.487	5008	,	,		13280	0.3323		0.3996	False		,,,				2504	0.2924				p.S1100S													.	DSPP	174		0			c.C3300T												13	21	18					4																	88537114		1002	1944	2946	SO:0001819	synonymous_variant	1834	exon5			TAGCAGCGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3300C>T	4.37:g.88537114C>T			32	0	0		28	0.29	8	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		T	88537114	C	T	88537114	2	4	55	1	0	0	0	0	0	0	0	1	4787	767	27	1		1	DSPP	4	88537114	Silent	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	13470102	88537114	102617162	11	3911											
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	134072091	134072091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagagaactctcccccaGgcactctcgtgatccagctc	9	8	7	17	1	2	2	0	1	2	1	6	3	3	2	4	1	3	2	4	1	2	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr4:134072091G>C	ENST00000264360.5	+	1	1622	c.796G>C	c.(796-798)Ggc>Cgc	p.G266R	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	266	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)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCTCCCCCAGGCACTCTCGT	0.622																																					p.G266R													.	.			0			c.G796C												88	87	87					4																	134072091		2203	4300	6503	SO:0001583	missense	57575	exon1			CCCCCAGGCACTC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.796G>C	4.37:g.134072091G>C	ENSP00000264360:p.Gly266Arg		73	0	0		50	0.18	9	NM_032961	0		0	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735616	0.30774	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55413	0.52	4.29	2.52	0.30459	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	D	0.000420	T	0.78660	0.4318	H	0.97077	3.935	0.58432	D	0.999992	D;D	0.89917	0.993;1.0	D;D	0.79784	0.955;0.993	T	0.80756	-0.1240	10	0.87932	D	0	.	9.5853	0.39512	0.0805:0.1416:0.7779:0.0	.	266;266	Q9P2E7;Q96SF0	PCD10_HUMAN;.	R	266	ENSP00000264360:G266R	ENSP00000264360:G266R	G	+	1	0	PCDH10	134291541	1.000000	0.71417	0.151000	0.22473	0.203000	0.24098	9.584000	0.98220	0.416000	0.25844	0.505000	0.49811	GGC			0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000364457.2		NM_032961		C	134072091	G	C	134072091	3	2	55	1	0	0	0	0	1	0	0	0	11524	1000	35	5	798	5	PCDH10	4	134072091	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	45534977	134072091	57082185	12	3912											
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	134073757	134073757	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacaaccagaattactgctAtcaggtatgcctgacccctg	11	9	7	14	0	1	2	1	1	0	1	1	2	1	2	5	1	4	2	5	1	5	3			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr4:134073757A>T	ENST00000264360.5	+	1	3288	c.2462A>T	c.(2461-2463)tAt>tTt	p.Y821F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	821					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AATTACTGCTATCAGGTATGC	0.597																																					p.Y821F													.	.			0			c.A2462T												84	74	78					4																	134073757		2203	4300	6503	SO:0001583	missense	57575	exon1			ACTGCTATCAGGT	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2462A>T	4.37:g.134073757A>T	ENSP00000264360:p.Tyr821Phe		109	0	0		77	0.16	12	NM_032961	1	1	1	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158810	0.78226	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.61510	0.1	5.01	5.01	0.66863	.	0.000000	0.41001	D	0.000974	T	0.71500	0.3347	L	0.58101	1.795	0.58432	D	0.999998	D;D	0.69078	0.997;0.985	D;P	0.70716	0.97;0.728	T	0.75065	-0.3449	10	0.87932	D	0	.	14.3979	0.67022	1.0:0.0:0.0:0.0	.	821;821	Q9P2E7;Q96SF0	PCD10_HUMAN;.	F	821	ENSP00000264360:Y821F	ENSP00000264360:Y821F	Y	+	2	0	PCDH10	134293207	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.923000	0.92808	1.883000	0.54544	0.459000	0.35465	TAT			0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000364457.2		NM_032961		T	134073757	A	T	134073757	3	4	55	1	0	0	0	0	1	0	0	0	11524	449	16	5	2464	5	PCDH10	4	134073757	Missense_Mutation	SNP	A	TCGA-2G-AAHT-01A-11D-A42Y-10	1666	134073757	57080519	13	3913											
MAN2A1	4124	mdanderson.org	37	chr5	109103372	109103372	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttaaaaaacactttgcactGcataaaacattggagttttt	15	14	6	6	0	0	0	0	0	0	0	0	1	0	1	0	1	4	4	0	1	5	6			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr5:109103372G>A	ENST00000261483.4	+	6	2024	c.972G>A	c.(970-972)ctG>ctA	p.L324L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	324					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACTTTGCACTGCATAAAACAT	0.388																																					p.L324L													.	.			0			c.G972A												111	111	111					5																	109103372		2202	4299	6501	SO:0001819	synonymous_variant	4124	exon6			TGCACTGCATAAA		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.972G>A	5.37:g.109103372G>A			53	0	0		55	0.07	4	NM_002372	4	0	0	Q16767	Silent	SNP	ENST00000261483.4	37	CCDS34209.1																																																																																					0.388	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370680.1				A	109103372	G	A	109103372	2	1	55	1	0	0	0	0	0	0	0	1	9230	1306	46	2		2	MAN2A1	5	109103372	Silent	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10		109103372	71811888	14	3914											
FBN2	2201	mdanderson.org	37	chr5	127873220	127873220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaggctggccggccGtgccctgcgcccagagcacc	5	4	16	16	3	0	2	0	1	0	1	0	3	0	2	5	4	3	3	5	4	0	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr5:127873220G>A	ENST00000508053.1	-	7	1051	c.77C>T	c.(76-78)aCg>aTg	p.T26M	FBN2_ENST00000508989.1_Missense_Mutation_p.T26M|FBN2_ENST00000262464.4_Missense_Mutation_p.T26M			P35556	FBN2_HUMAN	fibrillin 2	26					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)		CTGGCCGGCCGTGCCCTGCGC	0.711																																					p.T26M													.	.			0			c.C77T												14	15	15					5																	127873220		2164	4240	6404	SO:0001583	missense	2201	exon1			CCGGCCGTGCCCT	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.77C>T	5.37:g.127873220G>A	ENSP00000424571:p.Thr26Met		50	0	0		24	0.13	3	NM_001999	0		0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672391	0.67928	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.86694	-1.88;-1.88;-2.16;-0.69	4.77	4.77	0.60923	.	0.354847	0.23916	N	0.043287	T	0.80869	0.4706	N	0.08118	0	0.33145	D	0.544896	D;D;D;P	0.61080	0.988;0.989;0.957;0.88	P;P;B;B	0.51016	0.656;0.551;0.321;0.321	T	0.82961	-0.0197	10	0.25106	T	0.35	.	15.9565	0.79891	0.0:0.0:1.0:0.0	.	26;26;26;26	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	M	26	ENSP00000262464:T26M;ENSP00000424571:T26M;ENSP00000425596:T26M;ENSP00000424753:T26M	ENSP00000262464:T26M	T	-	2	0	FBN2	127901119	0.999000	0.42202	0.936000	0.37596	0.998000	0.95712	4.032000	0.57274	2.350000	0.79820	0.591000	0.81541	ACG			0.711	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371618.2		NM_001999		A	127873220	G	A	127873220	3	1	55	1	0	0	0	0	1	0	0	0	5716	1145	40	1	8921	1	FBN2	5	127873220	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	18769848	127873220	53042040	15	3915											
ZNF322A	79692	broad.mit.edu	37	chr6	26637624	26637624	+	Frame_Shift_Del	DEL	T	T	-																															ggagggctaagctcaagaccTttttcactcacattacagac																										TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr6:26637624delT	ENST00000415922.2	-	4	1803	c.1158delA	c.(1156-1158)aaafs	p.K386fs	ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000471278.1_Frame_Shift_Del_p.K386fs	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	386					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)										GCTCAAGACCTTTTTCACTCA	0.413																																					p.K386fs													.	.			0			c.1158delA												175	133	147					6																	26637624		2201	4298	6499	SO:0001589	frameshift_variant	79692	exon5			AAGACCTTTTTCA	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.1158delA	6.37:g.26637624delT	ENSP00000418897:p.Lys386fs		727	0	0		833	0.01	8	NM_001242797	31	0	0	A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Frame_Shift_Del	DEL	ENST00000415922.2	37	CCDS4617.1																																																																																					0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040126.2		NM_024639		-	26637624	T	-	26637624	7	5	55	1	0	1	0	1	0	0	0	0	17864	1606	56	0	54	0	ZNF322A	6	26637624	Frame_Shift_Del	DEL	T	TCGA-2G-AAHT-01A-11D-A42Y-10		26637624	144477443	16	3916											
C6orf27	80737	broad.mit.edu	37	chr6	31733784	31733784	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggccgctgaatctgggAcctccagccacaggcggccc	6	4	14	17	3	1	1	0	1	1	0	2	2	2	2	6	5	1	1	6	5	1	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr6:31733784A>C	ENST00000375688.4	-	16	2575	c.2375T>G	c.(2374-2376)gTc>gGc	p.V792G	VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375686.3_Missense_Mutation_p.V792G|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	792						extracellular region (GO:0005576)											TGAATCTGGGACCTCCAGCCA	0.627																																					p.V792G													.	.			0			c.T2375G												89	113	104					6																	31733784		1508	2707	4215	SO:0001583	missense	80737	exon16			TCTGGGACCTCCA		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.2375T>G	6.37:g.31733784A>C	ENSP00000364840:p.Val792Gly		69	0.2898550725	20		108	0.34	37	NM_025258	1	0	0	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333629	0.81801	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.18016	2.46;2.24	4.75	4.75	0.60458	.	0.415822	0.21513	N	0.073344	T	0.13372	0.0324	L	0.32530	0.975	0.80722	D	1	P	0.51791	0.948	P	0.55577	0.779	T	0.02378	-1.1168	10	0.38643	T	0.18	-19.5948	10.8128	0.46557	1.0:0.0:0.0:0.0	.	792	Q9Y334	G7C_HUMAN	G	792	ENSP00000364840:V792G;ENSP00000364838:V792G	ENSP00000364838:V792G	V	-	2	0	C6orf27	31841763	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.046000	0.57376	2.125000	0.65367	0.460000	0.39030	GTC			0.627	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076233.2		NM_025258		C	31733784	A	C	31733784	3	2	55	1	0	0	0	0	1	0	0	0	2364	275	10	4	307	4	C6orf27	6	31733784	Missense_Mutation	SNP	A	TCGA-2G-AAHT-01A-11D-A42Y-10	5096160	31733784	139381283	17	3917											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975873	32975873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgccggccagcccgcccTgcgggtcaaagcgggcaaag	8	3	15	15	5	1	0	1	0	0	0	1	1	1	0	4	3	4	1	4	3	2	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr6:32975873T>C	ENST00000229829.5	-	2	323	c.248A>G	c.(247-249)cAg>cGg	p.Q83R	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Missense_Mutation_p.Q53R	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	83	Alpha-1.				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						CAGCCCGCCCTGCGGGTCAAA	0.602																																					p.Q83R													.	HLA-DOA	22		0			c.A248G												50	50	50					6																	32975873		1511	2709	4220	SO:0001583	missense	3111	exon2			CCGCCCTGCGGGT	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.248A>G	6.37:g.32975873T>C	ENSP00000229829:p.Gln83Arg		69	0.0144927536	1		107	0.04	4	NM_002119	31	0	0	Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	CCDS4763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.062|9.062	0.994682|0.994682	0.19043|0.19043	.|.	.|.	ENSG00000204252|ENSG00000204252	ENST00000374813|ENST00000229829;ENST00000450833	.|T;T	.|0.01015	.|5.44;5.44	4.5|4.5	4.5|4.5	0.54988|0.54988	.|MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	.|0.301841	.|0.31697	.|N	.|0.007209	.|T	.|0.03011	.|0.0089	M|M	0.90082|0.90082	3.085|3.085	0.23661|0.23661	N|N	0.997171|0.997171	.|D;D	.|0.57899	.|0.965;0.981	.|D;D	.|0.75020	.|0.985;0.943	.|T	.|0.17899	.|-1.0354	.|10	.|0.87932	.|D	.|0	.|.	10.4184|10.4184	0.44335|0.44335	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|53;83	.|B4DW77;P06340	.|.;DOA_HUMAN	.|R	-1|83;53	.|ENSP00000229829:Q83R;ENSP00000403896:Q53R	.|ENSP00000229829:Q83R	.|Q	-|-	.|2	.|0	HLA-DOA|HLA-DOA	33083851|33083851	0.171000|0.171000	0.23029|0.23029	0.300000|0.300000	0.25030|0.25030	0.253000|0.253000	0.25986|0.25986	1.315000|1.315000	0.33608|0.33608	2.021000|2.021000	0.59480|0.59480	0.459000|0.459000	0.35465|0.35465	.|CAG			0.602	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076426.2		NM_002119		C	32975873	T	C	32975873	3	2	55	1	0	0	0	0	1	0	0	0	7215	1580	55	4	520	4	HLA-DOA	6	32975873	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10	1242089	32975873	138139194	18	3918											
KLHL31	401265	mdanderson.org	37	chr6	53516646	53516646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagtgctcactcccaccTgcagcggcgccgcgtagctc	5	6	11	19	5	1	0	1	0	0	0	3	0	2	0	4	1	4	5	4	1	1	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr6:53516646T>C	ENST00000407079.1	-	2	1654	c.1655A>G	c.(1654-1656)cAg>cGg	p.Q552R	KLHL31_ENST00000370905.3_Missense_Mutation_p.Q552R			Q9H511	KLH31_HUMAN	kelch-like family member 31	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CACTCCCACCTGCAGCGGCGC	0.716																																					p.Q552R													.	.			0			c.A1655G												13	15	14					6																	53516646		2195	4292	6487	SO:0001583	missense	401265	exon3			CCCACCTGCAGCG		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1655A>G	6.37:g.53516646T>C	ENSP00000384644:p.Gln552Arg		25	0	0		32	0.09	3	NM_001003760	0		0	A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	T	3.740	-0.053862	0.07362	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.65549	-0.16;-0.16	5.67	-11.3	0.00108	Galactose oxidase, beta-propeller (1);	0.722104	0.14382	N	0.323097	T	0.14442	0.0349	N	0.25426	0.745	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.16571	-1.0398	10	0.11182	T	0.66	.	10.1395	0.42728	0.2971:0.0:0.5707:0.1322	.	552	Q9H511	KLH31_HUMAN	R	552	ENSP00000359942:Q552R;ENSP00000384644:Q552R	ENSP00000359942:Q552R	Q	-	2	0	KLHL31	53624605	0.000000	0.05858	0.001000	0.08648	0.866000	0.49608	-0.943000	0.03917	-2.269000	0.00684	-1.096000	0.02151	CAG			0.716	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040965.1		NM_001003760		C	53516646	T	C	53516646	3	2	55	1	0	0	0	0	1	0	0	0	8400	1580	55	4	253	4	KLHL31	6	53516646	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10	20540773	53516646	117598421	19	3919											
RAC1	5879	broad.mit.edu	37	chr7	6441622	6441622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagctgactcccatcAcctatccgcagggtctagcc	11	7	9	14	1	2	3	1	1	1	2	4	3	4	3	4	1	2	2	4	1	4	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr7:6441622A>G	ENST00000348035.4	+	5	625	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.T157A	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	138					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GACTCCCATCACCTATCCGCA	0.463																																					p.T157A													.	RAC1	101		0			c.A469G												186	152	164					7																	6441622		2203	4300	6503	SO:0001583	missense	5879	exon6			CCCATCACCTATC	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.412A>G	7.37:g.6441622A>G	ENSP00000258737:p.Thr138Ala		74	0	0		116	0.03	3	NM_018890	798	0	2	O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	19.64	3.864565	0.71949	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.76839	-1.05;-1.05	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	M	0.74467	2.265	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.14578	0.011;0.01	T	0.75969	-0.3130	10	0.66056	D	0.02	.	16.2979	0.82784	1.0:0.0:0.0:0.0	.	138;157	P63000;A4D2P0	RAC1_HUMAN;.	A	138;157	ENSP00000258737:T138A;ENSP00000348461:T157A	ENSP00000258737:T138A	T	+	1	0	RAC1	6408147	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.145000	0.94634	2.241000	0.73720	0.533000	0.62120	ACC			0.463	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000242868.2		NM_018890		G	6441622	A	G	6441622	3	3	55	1	0	0	0	0	1	0	0	0	12997	159	6	4	491	4	RAC1	7	6441622	Missense_Mutation	SNP	A	TCGA-2G-AAHT-01A-11D-A42Y-10		6441622	152697041	20	3920											
GTF2I	2969	broad.mit.edu	37	chr7	74148279	74148279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcagacatgagcttctgaAttcaacacgtgaagatttac	13	13	7	8	1	3	5	2	3	1	2	3	5	3	5	0	0	3	1	0	0	4	5			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr7:74148279A>G	ENST00000324896.4	+	16	1708	c.1319A>G	c.(1318-1320)aAt>aGt	p.N440S	GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S|GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	440					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N440S(7)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAGCTTCTGAATTCAACACGT	0.358																																					p.N440S													GTF2I,NS,carcinoma,0,7	GTF2I	40	7	7	Substitution - Missense(7)	endometrium(7)	c.A1319G												111	102	105					7																	74148279		2201	4300	6501	SO:0001583	missense	2969	exon16			TTCTGAATTCAAC	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1319A>G	7.37:g.74148279A>G	ENSP00000322542:p.Asn440Ser		415	0.0024096386	1		638	0.01	6	NM_032999	485	0	0	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085752	0.55861	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.35236	1.34;1.32;1.32;1.32	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000002	T	0.40670	0.1126	N	0.16368	0.405	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.971;0.99;0.998;0.982	D;P;D;D;D	0.76071	0.97;0.717;0.979;0.987;0.952	T	0.31052	-0.9957	10	0.45353	T	0.12	-19.2887	11.2081	0.48782	1.0:0.0:0.0:0.0	.	418;399;420;419;440	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	S	440;435;420;419;399	ENSP00000322542:N440S;ENSP00000322671:N420S;ENSP00000322599:N419S;ENSP00000387651:N399S	ENSP00000322542:N440S	N	+	2	0	GTF2I	73786215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.703000	0.54808	1.839000	0.53478	0.477000	0.44152	AAT			0.358	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252708.1		NM_032999		G	74148279	A	G	74148279	3	3	55	1	0	0	0	0	1	0	0	0	6882	101	4	4	1377	4	GTF2I	7	74148279	Missense_Mutation	SNP	A	TCGA-2G-AAHT-01A-11D-A42Y-10	67706657	74148279	84990384	21	3921											
SSPO	23145	mdanderson.org	37	chr7	149523792	149523792	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcacaatggcacgtgtgtgCctcccactgcctgcccctgc	5	9	10	17	1	0	0	0	0	0	0	1	0	1	0	5	1	5	2	5	1	1	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr7:149523792C>T	ENST00000378016.2	+	0	14605							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)			CACGTGTGTGCCTCCCACTGC	0.677																																					p.P4868S													.	.			0			c.C14602T												20	25	23					7																	149523792		2184	4269	6453			23145	exon103			TGTGTGCCTCCCA	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.149523792C>T			18	0	0		21	0.1	2	NM_198455	0		0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						T	149523792	C	T	149523792	1	4	55	0	1	0	0	0	0	0	0	0	15212	739	26	2		2	SSPO	7	149523792	RNA	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	75375513	149523792	9614871	22	3922											
UBE3C	9690	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	157023941	157023941	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctactaatgaagggcttctgTaccccaacccggctgctcag	9	9	9	14	1	2	1	1	1	1	0	2	1	2	1	3	2	4	4	3	2	5	4			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr7:157023941T>C	ENST00000348165.5	+	18	2761	c.2401T>C	c.(2401-2403)Tac>Cac	p.Y801H		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	801	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AGGGCTTCTGTACCCCAACCC	0.423																																					p.Y801H													.	UBE3C	124		0			c.T2401C												64	68	67					7																	157023941		2203	4300	6503	SO:0001583	missense	9690	exon18			CTTCTGTACCCCA	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2401T>C	7.37:g.157023941T>C	ENSP00000309198:p.Tyr801His		145	0.0068965517	1		221	0.21	46	NM_014671	176	0.23	40	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885870	0.91814	.	.	ENSG00000009335	ENST00000348165	T	0.58797	0.31	5.46	5.46	0.80206	HECT (4);	0.057534	0.64402	D	0.000001	T	0.75019	0.3793	M	0.71036	2.16	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.988	T	0.78357	-0.2235	10	0.87932	D	0	.	15.5773	0.76400	0.0:0.0:0.0:1.0	.	801;654	Q15386;B4DHJ9	UBE3C_HUMAN;.	H	801	ENSP00000309198:Y801H	ENSP00000309198:Y801H	Y	+	1	0	UBE3C	156716702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.751000	0.85126	2.094000	0.63399	0.454000	0.30748	TAC			0.423	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348108.1		NM_014671		C	157023941	T	C	157023941	3	2	55	1	0	0	0	0	1	0	0	0	16905	1638	57	4	2471	4	UBE3C	7	157023941	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10	7500149	157023941	2114722	23	3923											
DUSP4	1846	mdanderson.org	37	chr8	29207399	29207399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtgcgctcggcgttgcGgcgcagcgcctgcaccacca	4	6	15	16	7	0	0	0	0	0	0	2	0	0	0	3	3	4	4	3	3	0	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr8:29207399G>A	ENST00000240100.2	-	1	786	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	RP4-676L2.1_ENST00000567818.1_RNA|DUSP4_ENST00000240101.2_5'Flank	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	133	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|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)|protein dephosphorylation (GO:0006470)|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)	nucleoplasm (GO:0005654)|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)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TCGGCGTTGCGGCGCAGCGCC	0.706																																					p.R133C													.	.			0			c.C397T												14	13	13					8																	29207399		2073	4086	6159	SO:0001583	missense	1846	exon1			CGTTGCGGCGCAG	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.397C>T	8.37:g.29207399G>A	ENSP00000240100:p.Arg133Cys		10	0	0		10	0.2	2	NM_001394	3	0	0	B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042957	0.55003	.	.	ENSG00000120875	ENST00000240100	T	0.27720	1.65	3.89	3.01	0.34805	Rhodanese-like (5);	0.052530	0.64402	D	0.000001	T	0.52661	0.1748	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.55438	-0.8141	10	0.51188	T	0.08	.	11.1306	0.48345	0.0:0.0:0.8139:0.1861	.	133	Q13115	DUS4_HUMAN	C	133	ENSP00000240100:R133C	ENSP00000240100:R133C	R	-	1	0	DUSP4	29263318	0.998000	0.40836	0.995000	0.50966	0.405000	0.30901	1.262000	0.32992	1.208000	0.43306	0.491000	0.48974	CGC			0.706	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257249.1		NM_001394		A	29207399	G	A	29207399	3	1	55	1	0	0	0	0	1	0	0	0	4832	1116	39	1	967	1	DUSP4	8	29207399	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10		29207399	117156623	24	3924											
AK3	50808	mdanderson.org	37	chr9	4741004	4741004	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttcagctcgaagtgtgtAgtgatgcgcgacgacacggt	8	10	14	9	5	1	1	1	1	0	0	2	4	1	1	0	1	3	3	0	1	2	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr9:4741004A>G	ENST00000381809.3	-	1	314	c.84T>C	c.(82-84)acT>acC	p.T28T	AK3_ENST00000447596.4_Silent_p.T28T|AK3_ENST00000359883.2_Intron	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	26					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	CGAAGTGTGTAGTGATGCGCG	0.721																																					p.T28T													.	.			0			c.T84C												35	31	32					9																	4741004		2202	4300	6502	SO:0001819	synonymous_variant	50808	exon1			GTGTGTAGTGATG	BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"adenylate kinase 6", "adenylate kinase 3 like 1"	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.84T>C	9.37:g.4741004A>G			93	0	0		60	0.05	3	NM_001199852	16	0	0	B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Silent	SNP	ENST00000381809.3	37	CCDS6455.1																																																																																					0.721	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051585.1		NM_016282		G	4741004	A	G	4741004	2	3	55	1	0	0	0	0	0	0	0	1	441	407	15	4		4	AK3	9	4741004	Silent	SNP	A	TCGA-2G-AAHT-01A-11D-A42Y-10		4741004	136472427	25	3925											
SIGMAR1	10280	mdanderson.org	37	chr9	34637553	34637553	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgctcaccagcgtactGccgcgccaactgcgctatct	6	8	9	18	5	2	0	1	0	1	0	2	0	2	0	4	0	6	3	4	0	3	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr9:34637553G>A	ENST00000277010.4	-	1	215	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000477726.1_Nonsense_Mutation_p.Q48*|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	48					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)	CCAGCGTACTGCCGCGCCAAC	0.697																																					p.Q48X													.	.			0			c.C142T												14	17	16					9																	34637553		2199	4294	6493	SO:0001587	stop_gained	10280	exon1			CGTACTGCCGCGC	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.142C>T	9.37:g.34637553G>A	ENSP00000277010:p.Gln48*		14	0	0		48	0.06	3	NM_147157	75	0	0	D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Nonsense_Mutation	SNP	ENST00000277010.4	37	CCDS6562.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389942	0.95988	.	.	ENSG00000147955	ENST00000277010;ENST00000477726	.	.	.	4.7	3.79	0.43588	.	0.064498	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3087	5.6611	0.17670	0.0982:0.0:0.7055:0.1964	.	.	.	.	X	48	.	ENSP00000277010:Q48X	Q	-	1	0	SIGMAR1	34627553	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.621000	0.54210	1.163000	0.42636	0.561000	0.74099	CAG			0.697	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052204.1		NM_005866		A	34637553	G	A	34637553	4	1	55	1	0	0	0	0	0	1	0	0	14339	1328	46	2	545	2	SIGMAR1	9	34637553	Nonsense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	29896549	34637553	106575878	26	3926											
RC3H2	54542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	125643061	125643061	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattagggaagagtcttcatCtcttttggtaacctaaaaaa	14	13	7	7	0	3	1	1	0	2	1	4	2	3	2	1	2	1	1	1	2	6	6			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr9:125643061C>G	ENST00000373670.1	-	5	1372	c.772G>C	c.(772-774)Gat>Cat	p.D258H	SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000357244.2_Missense_Mutation_p.D258H|RC3H2_ENST00000335387.5_Missense_Mutation_p.D258H|RC3H2_ENST00000373665.2_Missense_Mutation_p.D258H|RC3H2_ENST00000423239.2_Missense_Mutation_p.D258H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	258					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						GAGTCTTCATCTCTTTTGGTA	0.408																																					p.D258H													.	.			0			c.G772C												83	77	79					9																	125643061		1882	4114	5996	SO:0001583	missense	54542	exon6			CTTCATCTCTTTT	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.772G>C	9.37:g.125643061C>G	ENSP00000362774:p.Asp258His		88	0	0		86	0.17	15	NM_018835	48	0.42	20	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301860	0.81136	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.96670	0.8913	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.957;0.99;0.996	D	0.97213	0.9872	10	0.87932	D	0	-16.3659	17.6585	0.88184	0.0:1.0:0.0:0.0	.	258;258;258	A6NHN2;Q9HBD1;Q9HBD1-4	.;RC3H2_HUMAN;.	H	258;258;129;258;258;258	ENSP00000362774:D258H;ENSP00000349783:D258H;ENSP00000411767:D258H;ENSP00000362769:D258H;ENSP00000335150:D258H	ENSP00000335150:D258H	D	-	1	0	RC3H2	124682882	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.776000	0.85560	2.503000	0.84419	0.561000	0.74099	GAT			0.408	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053966.1		NM_018835		G	125643061	C	G	125643061	3	3	55	1	0	0	0	0	1	0	0	0	13190	913	32	5	2945	5	RC3H2	9	125643061	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	91005508	125643061	15570370	27	3927											
TTF1	7270	mdanderson.org	37	chr9	135277780	135277780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaagtacctgaaatttGtctgttttaggctttcttgg	8	18	9	6	0	2	1	0	1	2	0	2	1	2	1	1	2	2	4	1	2	5	7			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr9:135277780G>T	ENST00000334270.2	-	2	468	c.429C>A	c.(427-429)gaC>gaA	p.D143E		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	143	N-terminal region (NRD). {ECO:0000250}.				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)		CCTGAAATTTGTCTGTTTTAG	0.353																																					p.D143E													.	.			0			c.C429A												80	78	78					9																	135277780		2203	4300	6503	SO:0001583	missense	7270	exon2			AAATTTGTCTGTT	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.429C>A	9.37:g.135277780G>T	ENSP00000333920:p.Asp143Glu		75	0	0		92	0.04	4	NM_007344	42	0	0	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423696	0.25639	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.06528	3.29	4.9	-9.8	0.00490	.	1.463330	0.04079	N	0.309237	T	0.03053	0.0090	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.40289	-0.9571	10	0.13853	T	0.58	.	1.0312	0.01538	0.1586:0.1761:0.3011:0.3642	.	143	Q15361	TTF1_HUMAN	E	143	ENSP00000333920:D143E	ENSP00000245588:D143E	D	-	3	2	TTF1	134267601	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.371000	0.00244	-3.124000	0.00238	0.655000	0.94253	GAC			0.353	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054784.2		NM_007344		T	135277780	G	T	135277780	3	4	55	1	0	0	0	0	1	0	0	0	16742	1368	48	3	2328	3	TTF1	9	135277780	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	9634719	135277780	5935651	28	3928											
C9orf86	55684	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	139702690	139702690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtggggtcggaccaggcCccgggccgggacaagaacat	8	4	17	12	3	0	1	0	0	0	1	1	3	0	3	4	7	1	0	4	7	2	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr9:139702690C>T	ENST00000311502.7	+	1	278	c.42C>T	c.(40-42)gcC>gcT	p.A14A	RABL6_ENST00000357466.2_Silent_p.A14A|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000371671.4_Silent_p.A14A|RABL6_ENST00000371663.4_Silent_p.A14A|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	14					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CGGACCAGGCCCCGGGCCGGG	0.701																																					p.A14A													.	.			0			c.C42T												13	20	18					9																	139702690		691	1590	2281	SO:0001819	synonymous_variant	55684	exon1			CCAGGCCCCGGGC	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.42C>T	9.37:g.139702690C>T			103	0	0		81	0.36	29	NM_024718	38	0.24	9	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	CCDS48058.1																																																																																					0.701	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000055141.4		NM_024718		T	139702690	C	T	139702690	2	4	55	1	0	0	0	0	0	0	0	1	2504	610	22	3		3	C9orf86	9	139702690	Silent	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	4424910	139702690	1510741	29	3929											
PRKCQ	5588	bcgsc.ca;mdanderson.org	37	chr10	6470241	6470241	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattctggtccatgctgttGatcagtgctctgtcggcaaa	8	14	10	9	1	3	1	1	1	2	0	5	1	4	1	1	2	2	4	1	2	2	3			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr10:6470241G>T	ENST00000263125.5	-	18	2148	c.2049C>A	c.(2047-2049)atC>atA	p.I683I	PRKCQ_ENST00000539722.1_Silent_p.I558I|PRKCQ_ENST00000397176.2_Silent_p.I620I	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	683	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CCATGCTGTTGATCAGTGCTC	0.463																																					p.I683I	Ovarian(50;572 1126 10530 25349 30594)												.	PRKCQ	113		0			c.C2049A												207	213	211					10																	6470241		2203	4300	6503	SO:0001819	synonymous_variant	5588	exon18			GCTGTTGATCAGT	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.2049C>A	10.37:g.6470241G>T			76	0	0		72	0.07	5	NM_006257	7	0	0	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	8.379	0.837174	0.16891	.	.	ENSG00000065675	ENST00000397178	.	.	.	5.56	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2853	0.31924	0.0798:0.0:0.5288:0.3914	.	.	.	.	X	456	.	.	S	-	2	0	PRKCQ	6510247	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.545000	0.45769	1.336000	0.45506	0.561000	0.74099	TCA			0.463	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046665.1		NM_006257		T	6470241	G	T	6470241	2	4	55	1	0	0	0	0	0	0	0	1	12535	1280	45	3		3	PRKCQ	10	6470241	Silent	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10		6470241	129064506	30	3930											
ALDH18A1	5832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	97370021	97370021	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacacaggcactgtctacGtgctgcaggaagaactccgc	12	6	10	13	2	1	1	0	0	1	1	2	2	2	2	1	2	5	3	1	2	4	1	rs147842812		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr10:97370021G>A	ENST00000371224.2	-	17	2276	c.2139C>T	c.(2137-2139)caC>caT	p.H713H	ALDH18A1_ENST00000371221.3_Silent_p.H711H	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	713	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CACTGTCTACGTGCTGCAGGA	0.488																																					p.H713H													.	.			0			c.C2139T							G	,	1,4405	2.1+/-5.4	0,1,2202	110	92	98		2133,2139	-5.3	0.4	10	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ALDH18A1	NM_001017423.1,NM_002860.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	711/794,713/796	97370021	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5832	exon17			GTCTACGTGCTGC	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.2139C>T	10.37:g.97370021G>A			86	0	0		99	0.35	35	NM_002860	303	0.66	200	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	CCDS7443.1																																																																																			0		0.488	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049552.1		NM_002860		A	97370021	G	A	97370021	2	1	55	1	0	0	0	0	0	0	0	1	489	1136	40	1		1	ALDH18A1	10	97370021	Silent	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	90899780	97370021	38164726	31	3931											
MUC2	4583	mdanderson.org	37	chr11	1092969	1092969	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacggtgaccccaaccccAacacccaccggcacacagac	13	2	6	20	2	0	2	0	1	0	1	0	2	0	2	6	2	3	1	6	2	3	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr11:1092969A>T	ENST00000441003.2	+	30	4815	c.4788A>T	c.(4786-4788)ccA>ccT	p.P1596P	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccccaaccccaacacccaccg	0.632																																					p.P1596P													.	.			0			c.A4788T												47	82	69					11																	1092969		1778	3232	5010	SO:0001819	synonymous_variant	4583	exon30			AACCCCAACACCC	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.4788A>T	11.37:g.1092969A>T			36	0	0		38	0.08	3	NM_002457	0		0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1092969	A	T	1092969	2	4	55	1	0	0	0	0	0	0	0	1	9991	117	5	5		5	MUC2	11	1092969	Silent	SNP	A	TCGA-2G-AAHT-01A-11D-A42Y-10		1092969	133913547	32	3932											
MUC5B	727897	broad.mit.edu	37	chr11	1268816	1268816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaccacggtggtgaccaCgggctgtgagccccagtgtg	8	7	14	12	2	0	2	0	2	0	0	0	2	0	2	4	3	2	1	4	3	1	1	rs71469871		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr11:1268816C>T	ENST00000529681.1	+	31	10764	c.10706C>T	c.(10705-10707)aCg>aTg	p.T3569M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3572M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3569	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)		GTGGTGACCACGGGCTGTGAG	0.657																																					p.T3569M													.	MUC5B	473		0			c.C10706T												29	40	37					11																	1268816		1891	4068	5959	SO:0001583	missense	727897	exon31			TGACCACGGGCTG	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.10706C>T	11.37:g.1268816C>T	ENSP00000436812:p.Thr3569Met		245	0.0040816327	1		224	0.02	4	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.804	0.332711	0.11013	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19394	2.15;2.37	3.55	2.61	0.31194	.	.	.	.	.	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	D;P	0.57899	0.981;0.907	D;B	0.65323	0.934;0.153	T	0.08207	-1.0733	9	0.87932	D	0	.	5.2614	0.15576	0.0:0.6657:0.2138:0.1205	.	4097;3572	A7Y9J9;E9PBJ0	.;.	M	3569;3572;3541;3474	ENSP00000436812:T3569M;ENSP00000415793:T3572M	ENSP00000343037:T3541M	T	+	2	0	MUC5B	1225392	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	0.326000	0.19646	0.590000	0.29694	0.485000	0.47835	ACG			0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093		T	1268816	C	T	1268816	3	4	55	1	0	0	0	0	1	0	0	0	9995	536	19	1	10837	1	MUC5B	11	1268816	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	175847	1268816	133737700	33	3933											
TRIM3	10612	mdanderson.org	37	chr11	6477339	6477339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtctgctaccacgatgCggccgctgctggctgcggac	4	9	14	14	4	1	0	0	0	1	0	1	2	1	1	2	3	6	5	2	3	1	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr11:6477339C>T	ENST00000525074.1	-	7	1890	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	TRIM3_ENST00000345851.3_Missense_Mutation_p.R499H|TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000537602.1_Missense_Mutation_p.R421H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R380H|TRIM3_ENST00000359518.3_Missense_Mutation_p.R499H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	499					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCACGATGCGGCCGCTGCT	0.498																																					p.R499H	Melanoma(6;5 510 1540 25169 29084)												.	.			0			c.G1496A												113	104	107					11																	6477339		2201	4296	6497	SO:0001583	missense	10612	exon8			ACGATGCGGCCGC	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1496G>A	11.37:g.6477339C>T	ENSP00000433102:p.Arg499His		57	0	0		52	0.06	3	NM_006458	33	0	0	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083308	0.94050	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.66	5.66	0.87406	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	L	0.42245	1.32	0.53688	D	0.999978	D;D	0.89917	1.0;0.999	D;D	0.70487	0.961;0.969	T	0.72469	-0.4284	10	0.29301	T	0.29	-20.3884	11.7541	0.51866	0.0:0.919:0.0:0.081	.	380;499	F5H2Q8;O75382	.;TRIM3_HUMAN	H	499;499;499;499;488;421;499;380	ENSP00000433102:R499H;ENSP00000340797:R499H;ENSP00000441091:R421H;ENSP00000352508:R499H;ENSP00000445460:R380H	ENSP00000337094:R488H	R	-	2	0	TRIM3	6433915	0.437000	0.25593	1.000000	0.80357	0.994000	0.84299	2.669000	0.46825	2.667000	0.90743	0.563000	0.77884	CGC			0.498	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384224.2		NM_006458		T	6477339	C	T	6477339	3	4	55	1	0	0	0	0	1	0	0	0	16528	768	27	1	762	1	TRIM3	11	6477339	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	5208523	6477339	128529177	34	3934											
CCDC73	493860	hgsc.bcm.edu	37	chr11	32635415	32635415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtggcttcagttacctGattctcatcaatctgattct	7	19	6	9	0	5	2	3	2	3	0	6	2	5	2	1	1	1	2	1	1	2	6			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr11:32635415G>T	ENST00000335185.5	-	16	2492	c.2449C>A	c.(2449-2451)Cag>Aag	p.Q817K	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	817										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCAGTTACCTGATTCTCATCA	0.333																																					p.K817K													.	.			0			c.A2449A												123	106	111					11																	32635415		1821	4085	5906	SO:0001583	missense	493860	exon16			TTACCTGATTCTC	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2449C>A	11.37:g.32635415G>T	ENSP00000335325:p.Gln817Lys		89	0	0		97	0.04	4	NM_001008391	0		0	Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453648	0.63290	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	4.72	0.59763	.	0.469312	0.19820	N	0.105330	T	0.68458	0.3003	M	0.61703	1.905	0.80722	D	1	D	0.65815	0.995	P	0.58721	0.844	T	0.70644	-0.4815	9	0.66056	D	0.02	.	13.2994	0.60315	0.0748:0.0:0.9252:0.0	.	817	Q6ZRK6	CCD73_HUMAN	K	817	.	ENSP00000335325:Q817K	Q	-	1	0	CCDC73	32591991	0.998000	0.40836	1.000000	0.80357	0.909000	0.53808	2.584000	0.46102	2.645000	0.89757	0.650000	0.86243	CAG			0.333	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388874.2		NM_001008391		T	32635415	G	T	32635415	3	4	55	1	0	0	0	0	1	0	0	0	2848	1299	45	3	802	3	CCDC73	11	32635415	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	26158076	32635415	102371101	35	3935											
GPR152	390212	mdanderson.org	37	chr11	67219445	67219445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccagctggtagggcaGcctcaggaccacataggctg	8	6	15	12	0	1	0	1	0	0	0	1	1	1	1	3	5	2	4	3	5	2	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr11:67219445G>T	ENST00000312457.2	-	1	755	c.751C>A	c.(751-753)Ctg>Atg	p.L251M	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	251						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)			TGGTAGGGCAGCCTCAGGACC	0.652																																					p.L251M	Pancreas(102;800 1581 2723 7382 33622)												.	.			0			c.C751A												49	45	47					11																	67219445		2200	4295	6495	SO:0001583	missense	390212	exon1			AGGGCAGCCTCAG	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.751C>A	11.37:g.67219445G>T	ENSP00000310255:p.Leu251Met		28	0	0		30	0.1	3	NM_206997	0		0	Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	G	7.995	0.754201	0.15778	.	.	ENSG00000175514	ENST00000312457	T	0.76060	-0.99	4.72	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31976	N	0.006780	T	0.78117	0.4233	L	0.47190	1.495	0.24066	N	0.995997	D	0.71674	0.998	D	0.74348	0.983	T	0.66135	-0.5999	10	0.44086	T	0.13	.	7.7414	0.28843	0.0922:0.1662:0.7416:0.0	.	251	Q8TDT2	GP152_HUMAN	M	251	ENSP00000310255:L251M	ENSP00000310255:L251M	L	-	1	2	GPR152	66976021	0.973000	0.33851	0.921000	0.36526	0.010000	0.07245	2.670000	0.46833	0.580000	0.29522	-0.305000	0.09177	CTG			0.652	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397623.1				T	67219445	G	T	67219445	3	4	55	1	0	0	0	0	1	0	0	0	6672	962	34	2	665	2	GPR152	11	67219445	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	34584030	67219445	67787071	36	3936											
ARHGEF17	9828	broad.mit.edu	37	chr11	73066656	73066656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaaggatgctgtgcgtgtgGccaaggaggcgaggcctgcc	8	6	17	10	2	0	0	0	0	0	0	0	3	0	2	3	5	3	1	3	5	2	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr11:73066656G>T	ENST00000263674.3	+	4	3882	c.3532G>T	c.(3532-3534)Gcc>Tcc	p.A1178S	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1178	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGTGCGTGTGGCCAAGGAGGC	0.552																																					p.A1178S													.	ARHGEF17	117		0			c.G3532T												114	103	107					11																	73066656		2200	4293	6493	SO:0001583	missense	9828	exon4			CGTGTGGCCAAGG	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3532G>T	11.37:g.73066656G>T	ENSP00000263674:p.Ala1178Ser		100	0	0		97	0.04	4	NM_014786	2	0	0	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768444	0.90020	.	.	ENSG00000110237	ENST00000263674	T	0.68765	-0.35	6.17	6.17	0.99709	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77991	-0.2379	10	0.56958	D	0.05	-13.5856	19.4575	0.94900	0.0:0.0:1.0:0.0	.	1178	Q96PE2	ARHGH_HUMAN	S	1178	ENSP00000263674:A1178S	ENSP00000263674:A1178S	A	+	1	0	ARHGEF17	72744304	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.459000	0.97638	2.941000	0.99782	0.655000	0.94253	GCC			0.552	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397365.1		NM_014786		T	73066656	G	T	73066656	3	4	55	1	0	0	0	0	1	0	0	0	900	1203	42	2	3546	2	ARHGEF17	11	73066656	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	5847211	73066656	61939860	37	3937											
WNT11	7481	mdanderson.org	37	chr11	75905775	75905775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcccgggtggctcacCtgggacggggccgcaggagc	4	3	19	15	4	1	0	1	0	0	0	1	2	1	2	4	7	1	2	4	7	0	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr11:75905775C>A	ENST00000322563.3	-	3	557	c.433G>T	c.(433-435)Ggt>Tgt	p.G145C	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	145					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						GGTGGCTCACCTGGGACGGGG	0.701																																					p.G145C													.	.			0			c.G433T												15	14	14					11																	75905775		1944	3844	5788	SO:0001583	missense	7481	exon3			GCTCACCTGGGAC	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.433G>T	11.37:g.75905775C>A	ENSP00000325526:p.Gly145Cys		55	0	0		44	0.07	3	NM_004626	4	0	0	B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644188	0.67244	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76316	-1.01	4.95	4.95	0.65309	.	0.290180	0.36932	N	0.002327	D	0.84334	0.5449	L	0.59436	1.845	0.54753	D	0.99998	D	0.62365	0.991	P	0.60345	0.873	D	0.85511	0.1197	10	0.54805	T	0.06	.	17.1651	0.86814	0.0:1.0:0.0:0.0	.	145	O96014	WNT11_HUMAN	C	145	ENSP00000325526:G145C	ENSP00000325526:G145C	G	-	1	0	WNT11	75583423	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.559000	0.45888	2.287000	0.76781	0.555000	0.69702	GGT			0.701	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383083.1		NM_004626		A	75905775	C	A	75905775	3	1	55	1	0	0	0	0	1	0	0	0	17408	681	24	3	643	3	WNT11	11	75905775	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	2839119	75905775	59100741	38	3938											
C11orf82	220042	mdanderson.org	37	chr11	82639964	82639964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacattttttggtcttactGccactggtttgcacaggtaa	9	16	8	8	0	1	0	0	0	1	0	1	0	1	0	1	3	4	3	1	3	3	7			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr11:82639964G>T	ENST00000533655.1	+	4	471	c.259G>T	c.(259-261)Gcc>Tcc	p.A87S	C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87S|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87S|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87S|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87S|C11orf82_ENST00000528759.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		87					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGGTCTTACTGCCACTGGTTT	0.318																																					p.A87S													.	.			0			c.G259T												121	119	120					11																	82639964		2203	4300	6503	SO:0001583	missense	220042	exon4			CTTACTGCCACTG																												ENST00000533655.1:c.259G>T	11.37:g.82639964G>T	ENSP00000435421:p.Ala87Ser		63	0	0		55	0.05	3	NM_145018	28	0	0	Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293577	0.80914	.	.	ENSG00000165490	ENST00000524921;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000525388;ENST00000528262	T;T	0.53206	0.63;0.63	5.75	4.84	0.62591	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.111999	0.64402	D	0.000011	T	0.68650	0.3024	M	0.81239	2.535	0.80722	D	1	P;D	0.76494	0.944;0.999	P;D	0.68192	0.719;0.956	T	0.72462	-0.4286	9	.	.	.	.	14.6217	0.68592	0.0697:0.0:0.9303:0.0	.	87;87	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	S	87;87;87;87;148;87;87	ENSP00000414687:A87S;ENSP00000435421:A87S	.	A	+	1	0	C11orf82	82317612	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.119000	0.77145	1.427000	0.47276	0.557000	0.71058	GCC			0.318	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391936.1				T	82639964	G	T	82639964	3	4	55	1	0	0	0	0	1	0	0	0	1667	1319	46	2	265	2	C11orf82	11	82639964	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	6734189	82639964	52366552	39	3939											
SLC37A2	219855	mdanderson.org	37	chr11	124955359	124955359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccatcattgacggcacCggctccataggtctgtgact	8	9	11	13	3	2	2	1	2	1	0	3	2	3	2	3	4	0	2	3	4	1	2	rs144643816		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr11:124955359C>T	ENST00000403796.2	+	15	1618	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	SLC37A2_ENST00000407458.1_Silent_p.T439T|SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000308074.4_Silent_p.T439T	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	439					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TTGACGGCACCGGCTCCATAG	0.642																																					p.T439T	Melanoma(11;373 620 21213 26083 47768)												.	.			0			c.C1317T							C	,	3,4399	6.2+/-15.9	0,3,2198	57	49	52		1317,1317	-9.8	0	11	dbSNP_134	52	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SLC37A2	NM_001145290.1,NM_198277.2	,	0,4,6496	TT,TC,CC		0.0116,0.0682,0.0308	,	439/502,439/506	124955359	4,12996	2201	4299	6500	SO:0001819	synonymous_variant	219855	exon15			CGGCACCGGCTCC	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1317C>T	11.37:g.124955359C>T			75	0	0		38	0.08	3	NM_198277	26	0.04	1	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	CCDS44757.1																																																																																			0		0.642	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000386837.1		XM_166184		T	124955359	C	T	124955359	2	4	55	1	0	0	0	0	0	0	0	1	14621	639	23	1		1	SLC37A2	11	124955359	Silent	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	42315395	124955359	10051157	40	3940											
DYRK4	8798	broad.mit.edu	37	chr12	4722809	4722809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcctcaactggtagacGctcccaagaagtcagaggca	12	6	11	12	1	2	3	2	0	0	3	3	3	3	3	2	2	3	4	2	2	4	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr12:4722809G>A	ENST00000540757.2	+	13	1613	c.1453G>A	c.(1453-1455)Gct>Act	p.A485T	DYRK4_ENST00000010132.5_Missense_Mutation_p.A485T|DYRK4_ENST00000545342.1_Missense_Mutation_p.A122T|DYRK4_ENST00000543431.1_Missense_Mutation_p.A484T|RP11-500M8.7_ENST00000536588.1_Intron	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	485						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)			ACTGGTAGACGCTCCCAAGAA	0.542																																					p.A485T													DYRK4,NS,carcinoma,0,1	DYRK4	75	1	0			c.G1453A												58	57	58					12																	4722809		2203	4300	6503	SO:0001583	missense	8798	exon13			GTAGACGCTCCCA	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.1453G>A	12.37:g.4722809G>A	ENSP00000441755:p.Ala485Thr		132	0	0		267	0.02	5	NM_003845	235	0	0	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649728	0.29336	.	.	ENSG00000010219	ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342	T;T;T;T	0.64803	-0.12;-0.12;-0.08;0.6	5.88	4.07	0.47477	.	0.371075	0.24031	N	0.042195	T	0.44705	0.1306	L	0.40543	1.245	0.58432	D	0.999998	P;B;B	0.36438	0.553;0.055;0.033	B;B;B	0.23574	0.047;0.013;0.006	T	0.29518	-1.0009	10	0.29301	T	0.29	.	8.7475	0.34596	0.1715:0.0:0.8285:0.0	.	198;484;485	B4E1A4;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	T	485;485;484;122	ENSP00000441755:A485T;ENSP00000010132:A485T;ENSP00000439697:A484T;ENSP00000446005:A122T	ENSP00000010132:A485T	A	+	1	0	DYRK4	4593070	0.550000	0.26489	0.812000	0.32479	0.008000	0.06430	0.461000	0.21940	0.829000	0.34733	0.650000	0.86243	GCT			0.542	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000398780.2				A	4722809	G	A	4722809	3	1	55	1	0	0	0	0	1	0	0	0	4863	1087	38	1	1495	1	DYRK4	12	4722809	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10		4722809	129129086	41	3941											
CELA1	1990	mdanderson.org	37	chr12	51723604	51723604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccaagcaatggagggggCccccagagtcaccctgcagg	10	4	13	14	0	2	1	2	0	0	1	2	2	2	2	4	4	2	2	4	4	2	0	rs201129231		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr12:51723604C>G	ENST00000293636.1	-	7	663	c.623G>C	c.(622-624)gGc>gCc	p.G208A		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						ATGGAGGGGGCCCCCAGAGTC	0.552																																					p.G208A													.	.			0			c.G623C												59	61	60					12																	51723604		2203	4300	6503	SO:0001583	missense	1990	exon7			AGGGGGCCCCCAG		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.623G>C	12.37:g.51723604C>G	ENSP00000293636:p.Gly208Ala		40	0	0		37	0.11	4	NM_001971	1	0	0	Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	CCDS8812.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699931	0.48307	.	.	ENSG00000139610	ENST00000293636	D	0.96300	-3.97	5.37	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97949	0.9325	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.98693	1.0697	10	0.87932	D	0	-20.8256	14.5125	0.67797	0.1481:0.8519:0.0:0.0	rs60311818	208	Q9UNI1	CELA1_HUMAN	A	208	ENSP00000293636:G208A	ENSP00000293636:G208A	G	-	2	0	CELA1	50009871	1.000000	0.71417	0.033000	0.17914	0.084000	0.17831	7.543000	0.82106	1.357000	0.45904	0.484000	0.47621	GGC	0.001		0.552	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394901.1		NM_001971		G	51723604	C	G	51723604	3	3	55	1	0	0	0	0	1	0	0	0	3212	739	26	5	161	5	CELA1	12	51723604	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	47000795	51723604	82128291	42	3942											
E2F7	144455	broad.mit.edu	37	chr12	77449827	77449827	+	Frame_Shift_Del	DEL	T	T	-																															ggatttctttctggagtaaaTtttttttgcttcgataaatc																										TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr12:77449827delT	ENST00000322886.7	-	3	412	c.177delA	c.(175-177)aaafs	p.K59fs	E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	59					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K59fs*29(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGAGTAAATTTTTTTTGCT	0.363																																					p.K59fs													.	E2F7	201		2	Deletion - Frameshift(2)	large_intestine(2)	c.177delA												82	84	83					12																	77449827		2203	4300	6503	SO:0001589	frameshift_variant	144455	exon3			AGTAAATTTTTTT	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.177delA	12.37:g.77449827delT	ENSP00000323246:p.Lys59fs		174	0	0		228	0.03	7	NM_203394	0		0	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Del	DEL	ENST00000322886.7	37	CCDS9016.1																																																																																					0.363	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406716.1		XM_084871		-	77449827	T	-	77449827	7	5	55	1	0	1	0	1	0	0	0	0	4877	1490	52	0	2602	0	E2F7	12	77449827	Frame_Shift_Del	DEL	T	TCGA-2G-AAHT-01A-11D-A42Y-10	25726223	77449827	56402068	43	3943											
RFX4	5992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	106995124	106995124	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacggcgccgttccactGgtaatgaccagggcccaggg	7	6	14	14	4	0	1	0	1	0	0	2	2	1	1	4	4	0	2	4	4	1	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr12:106995124G>A	ENST00000392842.1	+	2	457				RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Splice_Site_p.E24K	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCGTTCCACTGGTAATGACCA	0.647																																					p.E24K													.	.			0			c.G70A												31	25	27					12																	106995124		2198	4290	6488	SO:0001627	intron_variant	5992	exon1			TCCACTGGTAATG	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.44-7451G>A	12.37:g.106995124G>A			159	0	0		170	0.21	36	NM_001206691	0		0	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444205	0.63067	.	.	ENSG00000111783	ENST00000357881;ENST00000266774	T	0.66280	-0.2	3.97	3.97	0.46021	.	0.053701	0.64402	D	0.000001	T	0.58609	0.2134	L	0.27053	0.805	0.80722	D	1	P;P	0.49696	0.593;0.927	P;P	0.56563	0.486;0.801	T	0.49570	-0.8926	10	0.16420	T	0.52	-17.849	11.8453	0.52381	0.0:0.0:1.0:0.0	.	24;24	Q33E94-2;Q33E94-4	.;.	K	24	ENSP00000350552:E24K	ENSP00000266774:E24K	E	+	1	0	RFX4	105519254	0.983000	0.35010	0.982000	0.44146	0.817000	0.46193	2.261000	0.43276	2.497000	0.84241	0.609000	0.83330	GAG			0.647	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402707.1		NM_032491		A	106995124	G	A	106995124	1	1	55	0	1	0	0	0	0	0	0	0	13288	1362	47	3		3	RFX4	12	106995124	Intron	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	29545297	106995124	26856771	44	3944											
KIAA1409	57578	broad.mit.edu	37	chr14	94088894	94088894	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccgggcactgagggggAgaagcctggggagctgatgc	8	5	19	9	1	0	4	0	3	0	1	0	6	0	5	2	5	3	2	2	5	1	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr14:94088894A>G	ENST00000393151.2	+	30	5315	c.5315A>G	c.(5314-5316)gAg>gGg	p.E1772G	UNC79_ENST00000553484.1_Missense_Mutation_p.E1794G|UNC79_ENST00000555664.1_Missense_Mutation_p.E1772G|UNC79_ENST00000256339.4_Missense_Mutation_p.E1595G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1772					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						ACTGAGGGGGAGAAGCCTGGG	0.562																																					p.E1595G													.	UNC79	366		0			c.A4784G												63	62	63					14																	94088894		2203	4300	6503	SO:0001583	missense	57578	exon30			AGGGGGAGAAGCC	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.5315A>G	14.37:g.94088894A>G	ENSP00000376858:p.Glu1772Gly		100	0.02	2		124	0.03	4	NM_020818	7	0	0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	A	0.571	-0.841303	0.02692	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18810	2.2;2.19;2.2;2.2	5.57	0.856	0.19019	.	0.935115	0.09117	N	0.846242	T	0.11324	0.0276	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32745	-0.9895	10	0.39692	T	0.17	-4.0088	2.2069	0.03938	0.5804:0.1108:0.0985:0.2103	.	1794	C9JQL1	.	G	1595;1772;1794;1772;1794	ENSP00000256339:E1595G;ENSP00000450868:E1772G;ENSP00000451360:E1794G;ENSP00000376858:E1772G	ENSP00000256339:E1595G	E	+	2	0	KIAA1409	93158647	0.569000	0.26643	0.036000	0.18154	0.034000	0.12701	1.112000	0.31172	0.381000	0.24851	0.397000	0.26171	GAG			0.562	UNC79-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000412766.1		XM_028395		G	94088894	A	G	94088894	3	3	55	1	0	0	0	0	1	0	0	0	8245	304	11	4	4890	4	KIAA1409	14	94088894	Missense_Mutation	SNP	A	TCGA-2G-AAHT-01A-11D-A42Y-10		94088894	13260646	45	3945											
FAM98B	283742	broad.mit.edu	37	chr15	38776833	38776833	+	IGR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtggtggtggtggTggaggaggtggatatagaag	7	10	24	0	0	0	1	0	0	0	1	0	4	0	4	0	11	0	0	0	11	3	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr15:38776833T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G425G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.G425G(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggaggaggtg	0.428																																					p.G425G													FAM98B_ENST00000397609,NS,carcinoma,0,2	FAM98B	53	2	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.T1275A												17	17	17					15																	38776833		1500	3373	4873	SO:0001628	intergenic_variant	283742	exon8			TGGTGGTGGAGGA		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776833T>A			78	0.0256410256	2		148	0.04	6	NM_173611	1	0	0	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																					0.428	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252071.2		NM_173611		A	38776833	T	A	38776833	1	1	55	0	1	0	0	0	0	0	0	0	5670	1683	59	5		5	FAM98B	15	38776833	IGR	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10		38776833	63754559	46	3946											
DISP2	85455	broad.mit.edu	37	chr15	40650534	40650536	+	In_Frame_Del	DEL	CAG	CAG	-																															cccacgggcatggacggtgaCagcagcagcagcagcggcgg																										TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr15:40650534_40650536delCAG	ENST00000267889.3	+	1	99_101	c.12_14delCAG	c.(10-15)gacagc>gac	p.S9del		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	9					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGACGGTGAcagcagcagcagc	0.818																																					p.4_5del													.	DISP2	86		0			c.12_14del									9,1127		3,3,562						-2.5	0			1	32,2792		9,14,1389	no	coding	DISP2	NM_033510.1		12,17,1951	A1A1,A1R,RR		1.1331,0.7923,1.0354				41,3919				SO:0001651	inframe_deletion	85455	exon1			CGGTGACAGCAGC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.12_14delCAG	15.37:g.40650543_40650545delCAG	ENSP00000267889:p.Ser9del		4	0	0		6	0.33	2	NM_033510	1	0	0	Q6AHW3|Q9C0C1	In_Frame_Del	DEL	ENST00000267889.3	37	CCDS10056.1																																																																																					0.818	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252249.1		NM_033510		-	40650536	CAG	-	40650534	7	5	55	1	0	1	0	1	0	0	0	0	4545	477	17	0	14	0	DISP2	15	40650534	In_Frame_Del	DEL	CAG	TCGA-2G-AAHT-01A-11D-A42Y-10	1873701	40650534	61880858	47	3947											
SPTBN5	51332	mdanderson.org	37	chr15	42185137	42185137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgctgttctccaggaaGtgcacacgcaggcggccccg	6	6	14	15	4	1	0	0	0	1	0	2	1	1	1	3	4	2	5	3	4	1	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr15:42185137G>T	ENST00000320955.6	-	3	566	c.339C>A	c.(337-339)caC>caA	p.H113Q	RP11-23P13.6_ENST00000309874.2_RNA|RP11-23P13.7_ENST00000605942.1_lincRNA|RP11-23P13.6_ENST00000562920.1_RNA|RP11-23P13.6_ENST00000568861.1_RNA|RP11-23P13.6_ENST00000564432.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	113	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TCTCCAGGAAGTGCACACGCA	0.687																																					p.H78Q													.	.			0			c.C234A												28	35	33					15																	42185137		1934	4130	6064	SO:0001583	missense	51332	exon3			CAGGAAGTGCACA	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.339C>A	15.37:g.42185137G>T	ENSP00000317790:p.His113Gln		34	0	0		42	0.07	3	NM_016642	0		0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	G	18.36	3.606940	0.66558	.	.	ENSG00000137877	ENST00000320955	D	0.94793	-3.52	5.15	2.91	0.33838	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	D	0.93916	0.8053	L	0.33753	1.03	0.24821	N	0.992585	D	0.89917	1.0	D	0.91635	0.999	D	0.86284	0.1669	10	0.87932	D	0	.	6.3767	0.21511	0.3844:0.0:0.6156:0.0	.	113	Q9NRC6	SPTN5_HUMAN	Q	113	ENSP00000317790:H113Q	ENSP00000317790:H113Q	H	-	3	2	SPTBN5	39972429	1.000000	0.71417	0.999000	0.59377	0.561000	0.35649	1.513000	0.35823	1.184000	0.42957	0.655000	0.94253	CAC			0.687	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000420237.1		NM_016642		T	42185137	G	T	42185137	3	4	55	1	0	0	0	0	1	0	0	0	15145	1020	36	3	10949	3	SPTBN5	15	42185137	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	1534603	42185137	60346255	48	3948											
ARIH1	25820	mdanderson.org	37	chr15	72767235	72767235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggtggcgggccggg	0	3	28	10	9	0	0	0	0	0	0	0	0	0	0	1	13	0	0	1	13	0	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr15:72767235C>T	ENST00000379887.4	+	1	569	c.255C>T	c.(253-255)ggC>ggT	p.G85G	RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	85	Gly-rich.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						gcggcggcggcggtggtggtg	0.736																																					p.G85G													.	.			0			c.C255T												4	3	3					15																	72767235		1491	2998	4489	SO:0001819	synonymous_variant	25820	exon1			CGGCGGCGGTGGT	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.255C>T	15.37:g.72767235C>T			62	0.0322580645	2		75	0.08	6	NM_005744	0		0	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Silent	SNP	ENST00000379887.4	37	CCDS10244.1																																																																																					0.736	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257350.1		NM_005744		T	72767235	C	T	72767235	2	4	55	1	0	0	0	0	0	0	0	1	923	755	27	1		1	ARIH1	15	72767235	Silent	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	30582098	72767235	29764157	49	3949											
VPS33B	26276	broad.mit.edu	37	chr15	91545330	91545330	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttactctccacggctgtgAgggtgtccccgggggcctgc	3	10	14	14	2	1	1	0	1	1	0	3	1	2	1	4	4	2	1	4	4	1	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr15:91545330A>G	ENST00000333371.3	-	18	1708	c.1355T>C	c.(1354-1356)cTc>cCc	p.L452P	VPS33B_ENST00000535843.1_Missense_Mutation_p.L361P|VPS33B_ENST00000535906.1_Missense_Mutation_p.L425P	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	452					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)					CACGGCTGTGAGGGTGTCCCC	0.572																																					p.L452P													.	VPS33B	42		0			c.T1355C												96	77	84					15																	91545330		2198	4298	6496	SO:0001583	missense	26276	exon18			GCTGTGAGGGTGT	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.1355T>C	15.37:g.91545330A>G	ENSP00000327650:p.Leu452Pro		92	0	0		140	0.03	4	NM_018668	64	0	0	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614501	0.87359	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.60548	0.19;0.18;0.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	L	0.38531	1.155	0.80722	D	1	D;B	0.61697	0.99;0.122	P;B	0.61201	0.885;0.092	T	0.60895	-0.7172	10	0.31617	T	0.26	-28.5376	15.5052	0.75731	1.0:0.0:0.0:0.0	.	425;452	F5H008;Q9H267	.;VP33B_HUMAN	P	452;425;361;407	ENSP00000327650:L452P;ENSP00000444053:L425P;ENSP00000446267:L361P	ENSP00000327650:L452P	L	-	2	0	VPS33B	89346334	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.930000	0.87610	2.326000	0.78906	0.533000	0.62120	CTC			0.572	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313496.1		NM_018668		G	91545330	A	G	91545330	3	3	55	1	0	0	0	0	1	0	0	0	17226	304	11	4	522	4	VPS33B	15	91545330	Missense_Mutation	SNP	A	TCGA-2G-AAHT-01A-11D-A42Y-10	18778095	91545330	10986062	50	3950											
HBA2	3040	broad.mit.edu	37	chr16	223511	223511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccctggccgcccaccTccccgccgagttcacccctg	4	6	10	21	3	1	1	1	1	0	0	2	2	2	1	9	2	0	1	9	2	0	1	rs281860618|rs63751471		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:223511T>C	ENST00000251595.6	+	3	407	c.341T>C	c.(340-342)cTc>cCc	p.L114P	HBA2_ENST00000397806.1_Missense_Mutation_p.L82P	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	114			L -> H (in Twin Peaks).		bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	GCCGCCCACCTCCCCGCCGAG	0.667											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.L114P	GBM(107;1340 2104 14383 27419)												.	HBA2	3		0			c.T341C	GRCh37	CM024476	HBA2	M								23	31	29					16																	223511		2146	4295	6441	SO:0001583	missense	3040	exon3			CCCACCTCCCCGC	BC008572	CCDS10398.1	16p13.3	2014-05-19			ENSG00000188536	ENSG00000188536			4824	protein-coding gene	gene with protein product		141850				6452630, 2649166	Standard	NM_000517		Approved	HBA-T2	uc002cfv.4	P69905	OTTHUMG00000059924	ENST00000251595.6:c.341T>C	16.37:g.223511T>C	ENSP00000251595:p.Leu114Pro		223	0.0179372197	4	586	270	0.04	10	NM_000517	7	0	0	P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Missense_Mutation	SNP	ENST00000251595.6	37	CCDS10398.1	.	.	.	.	.	.	.	.	.	.	t	9.214	1.031657	0.19590	.	.	ENSG00000188536	ENST00000251595;ENST00000534957;ENST00000397806	D;D	0.94966	-3.46;-3.57	4.07	-8.14	0.01069	Globin-like (1);Globin, structural domain (1);	0.782790	0.12569	N	0.457465	D	0.94833	0.8331	M	0.69823	2.125	0.09310	N	0.999999	D	0.54047	0.964	D	0.63381	0.914	D	0.92479	0.5991	10	0.42905	T	0.14	-2.9157	10.9087	0.47094	0.2045:0.0:0.0703:0.7253	.	114	P69905	HBA_HUMAN	P	114;82;82	ENSP00000251595:L114P;ENSP00000380908:L82P	ENSP00000251595:L114P	L	+	2	0	HBA2	163511	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	-2.126000	0.01316	-2.770000	0.00365	-0.471000	0.05019	CTC			0.667	HBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000133194.1		NM_000517		C	223511	T	C	223511	3	2	55	1	0	0	0	0	1	0	0	0	6992	1551	54	4	351	4	HBA2	16	223511	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10		223511	90131242	51	3951											
WDR24	84219	mdanderson.org	37	chr16	736808	736808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagctcggccagtggccggCcagccagcgcataacgctca	9	4	13	15	4	1	1	1	0	0	1	2	1	1	1	4	3	4	3	4	3	1	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:736808C>T	ENST00000248142.6	-	7	1657	c.1658G>A	c.(1657-1659)gGc>gAc	p.G553D	WDR24_ENST00000293883.4_Missense_Mutation_p.G423D|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	553										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CAGTGGCCGGCCAGCCAGCGC	0.662																																					p.G423D													.	.			0			c.G1268A												36	33	34					16																	736808		2198	4298	6496	SO:0001583	missense	84219	exon3			GGCCGGCCAGCCA	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1658G>A	16.37:g.736808C>T	ENSP00000248142:p.Gly553Asp		54	0	0		44	0.07	3	NM_032259	25	0	0	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37		.	.	.	.	.	.	.	.	.	.	C	17.52	3.410287	0.62399	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	D;T	0.86432	-2.12;-0.47	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	L	0.34521	1.04	0.80722	D	1	B	0.32101	0.356	B	0.37780	0.258	D	0.84553	0.0645	10	0.56958	D	0.05	-14.9087	16.4659	0.84079	0.0:1.0:0.0:0.0	.	423	Q96S15-2	.	D	553;423	ENSP00000248142:G553D;ENSP00000293883:G423D	ENSP00000248142:G553D	G	-	2	0	WDR24	676809	1.000000	0.71417	0.998000	0.56505	0.180000	0.23129	7.309000	0.78937	2.430000	0.82344	0.655000	0.94253	GGC			0.662	WDR24-201	KNOWN	basic	protein_coding	protein_coding				NM_032259		T	736808	C	T	736808	3	4	55	1	0	0	0	0	1	0	0	0	17305	739	26	2	1132	2	WDR24	16	736808	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	513297	736808	89617945	52	3952											
BAIAP3	8938	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	1391420	1391420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcggtggacccctgcctGccaagtgcatccaggtcacc	7	6	12	16	2	1	0	1	0	0	0	2	1	2	1	6	3	4	1	6	3	1	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:1391420G>A	ENST00000324385.5	+	8	924	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	BAIAP3_ENST00000397489.1_Missense_Mutation_p.A238T|BAIAP3_ENST00000421665.2_Missense_Mutation_p.A221T|BAIAP3_ENST00000397488.2_Missense_Mutation_p.A238T|BAIAP3_ENST00000426824.3_Missense_Mutation_p.A221T|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A198T|BAIAP3_ENST00000568887.1_Missense_Mutation_p.A193T	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	256	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				ACCCCTGCCTGCCAAGTGCAT	0.682																																					p.A256T													.	BAIAP3	88		0			c.G766A												61	56	58					16																	1391420		2197	4297	6494	SO:0001583	missense	8938	exon8			CTGCCTGCCAAGT	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.766G>A	16.37:g.1391420G>A	ENSP00000324510:p.Ala256Thr		160	0	0		167	0.04	7	NM_003933	38	0	0	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732979	0.69189	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-0.77	4.72	3.6	0.41247	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062562	0.64402	N	0.000007	T	0.81064	0.4745	L	0.28192	0.835	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.993;0.993;0.991;0.992;0.989	T	0.80555	-0.1330	10	0.62326	D	0.03	-28.0482	8.6093	0.33793	0.1444:0.0:0.8556:0.0	.	221;273;198;256;238	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	T	221;238;256;238;221	ENSP00000407242:A221T;ENSP00000380625:A238T;ENSP00000324510:A256T;ENSP00000380626:A238T;ENSP00000409533:A221T	ENSP00000324510:A256T	A	+	1	0	BAIAP3	1331421	1.000000	0.71417	0.777000	0.31699	0.460000	0.32559	6.223000	0.72257	0.948000	0.37687	0.313000	0.20887	GCC			0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000109056.3				A	1391420	G	A	1391420	3	1	55	1	0	0	0	0	1	0	0	0	1304	1319	46	2	796	2	BAIAP3	16	1391420	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	654612	1391420	88963333	53	3953											
DNASE1L2	1775	mdanderson.org	37	chr16	2287219	2287219	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcccctgtctccgcagCgtgtccgagcacgagtacag	6	6	14	15	5	1	0	0	0	1	0	3	2	2	0	4	1	3	3	4	1	1	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:2287219C>A	ENST00000564065.1	+	3	1235	c.234C>A	c.(232-234)agC>agA	p.S78R	DNASE1L2_ENST00000567494.1_Splice_Site_p.S78R|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_Splice_Site_p.S78R|DNASE1L2_ENST00000320700.5_Splice_Site_p.S78R			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	78					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						GTCTCCGCAGCGTGTCCGAGC	0.706																																					p.S78R													.	.			0			c.C234A												11	14	13					16																	2287219		1820	4048	5868	SO:0001630	splice_region_variant	1775	exon4			CCGCAGCGTGTCC	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.234-1C>A	16.37:g.2287219C>A			44	0	0		48	0.06	3	NM_001374	0		0	E9PBY4|Q6JVM2|Q6JVM3	Missense_Mutation	SNP	ENST00000564065.1	37	CCDS42105.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.986961	0.00443	.	.	ENSG00000167968	ENST00000541838;ENST00000320700;ENST00000382437	T;T	0.32023	1.47;1.47	4.04	-7.57	0.01318	Endonuclease/exonuclease/phosphatase (2);	0.324438	0.33040	N	0.005351	T	0.07863	0.0197	N	0.04724	-0.175	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.004	T	0.16778	-1.0391	9	.	.	.	.	2.1072	0.03694	0.2635:0.389:0.0878:0.2597	.	78;78	Q92874;Q6JVM2	DNSL2_HUMAN;.	R	78	ENSP00000316938:S78R;ENSP00000371874:S78R	.	S	+	3	2	DNASE1L2	2227220	0.000000	0.05858	0.005000	0.12908	0.013000	0.08279	-5.048000	0.00156	-1.482000	0.01860	-1.489000	0.00976	AGC			0.706	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000435236.1		NM_001374	Missense_Mutation	A	2287219	C	A	2287219	5	1	55	1	0	0	0	0	0	0	1	0	4667	782	27	1	244	1	DNASE1L2	16	2287219	Splice_Site	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	895799	2287219	88067534	54	3954											
UBN1	29855	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	4924423	4924423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgatccgcaatccagcctCctcggtggaagccgtgtcca	7	9	10	15	3	0	1	0	1	0	0	5	2	4	2	6	2	2	1	6	2	2	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:4924423C>T	ENST00000396658.4	+	14	2715	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	UBN1_ENST00000545171.1_Missense_Mutation_p.S671F|UBN1_ENST00000262376.6_Missense_Mutation_p.S671F|UBN1_ENST00000590769.1_Missense_Mutation_p.S671F	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	671					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						AATCCAGCCTCCTCGGTGGAA	0.562																																					p.S671F													.	UBN1	88		0			c.C2012T												107	106	106					16																	4924423		2197	4300	6497	SO:0001583	missense	29855	exon15			CAGCCTCCTCGGT	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.2012C>T	16.37:g.4924423C>T	ENSP00000379894:p.Ser671Phe		64	0.015625	1		100	0.16	16	NM_001079514	141	0.27	38	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293109	0.60086	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.52754	1.26;0.65;1.26	4.64	4.64	0.57946	.	0.084911	0.51477	D	0.000094	T	0.65954	0.2741	M	0.63428	1.95	0.41253	D	0.986722	P;D	0.65815	0.852;0.995	P;D	0.75484	0.702;0.986	T	0.68735	-0.5330	10	0.62326	D	0.03	-10.3364	16.2314	0.82344	0.0:1.0:0.0:0.0	.	671;671	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	F	671	ENSP00000262376:S671F;ENSP00000442379:S671F;ENSP00000379894:S671F	ENSP00000262376:S671F	S	+	2	0	UBN1	4864424	1.000000	0.71417	0.997000	0.53966	0.645000	0.38454	3.557000	0.53741	2.575000	0.86900	0.561000	0.74099	TCC			0.562	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251719.1		NM_016936		T	4924423	C	T	4924423	3	4	55	1	0	0	0	0	1	0	0	0	16916	855	30	3	2066	3	UBN1	16	4924423	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	2637204	4924423	85430330	55	3955											
CRYM	1428	mdanderson.org	37	chr16	21289540	21289540	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaggtgttcctccacctcGgccgcgctcaggaacgctgg	5	7	14	15	5	1	0	1	0	0	0	4	2	3	2	4	5	1	3	4	5	1	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:21289540G>T	ENST00000219599.3	-	3	298	c.33C>A	c.(31-33)gcC>gcA	p.A11A	CRYM_ENST00000396023.2_Silent_p.A11A|CRYM_ENST00000574787.1_5'Flank|CRYM_ENST00000415987.2_5'UTR|CRYM_ENST00000543948.1_Silent_p.A11A	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	11					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)		CCTCCACCTCGGCCGCGCTCA	0.652											OREG0023670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A11A													.	.			0			c.C33A												30	26	27					16																	21289540		2192	4291	6483	SO:0001819	synonymous_variant	1428	exon3			CACCTCGGCCGCG		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.33C>A	16.37:g.21289540G>T			26	0	0	747	26	0.12	3	NM_001888	10	0	0	D5MNX0|Q5HYB7	Silent	SNP	ENST00000219599.3	37	CCDS10597.1																																																																																					0.652	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207398.1				T	21289540	G	T	21289540	2	4	55	1	0	0	0	0	0	0	0	1	3923	1103	39	1		1	CRYM	16	21289540	Silent	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	16365117	21289540	69065213	56	3956											
CDH16	1014	mdanderson.org	37	chr16	66942309	66942309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattcagacagtcgcctTcaggggcacgctgtctgctg	6	9	13	13	2	3	1	2	0	1	1	4	1	3	1	2	3	1	3	2	3	0	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:66942309T>C	ENST00000299752.4	-	18	2669	c.2476A>G	c.(2476-2478)Aag>Gag	p.K826E	CDH16_ENST00000570262.1_Missense_Mutation_p.K746E|CDH16_ENST00000394055.3_Missense_Mutation_p.K804E|CDH16_ENST00000565796.1_Missense_Mutation_p.K787E|CDH16_ENST00000568632.1_Missense_Mutation_p.K729E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	826					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACAGTCGCCTTCAGGGGCACG	0.597																																					p.K826E													.	.			0			c.A2476G												87	84	85					16																	66942309		2200	4300	6500	SO:0001583	missense	1014	exon18			TCGCCTTCAGGGG	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2476A>G	16.37:g.66942309T>C	ENSP00000299752:p.Lys826Glu		44	0	0		37	0.08	3	NM_004062	0		0	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809613	0.50421	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.58210	0.35;0.37	5.89	4.74	0.60224	.	0.142673	0.45606	D	0.000343	T	0.64450	0.2599	L	0.54323	1.7	0.40373	D	0.979363	D;D;D	0.71674	0.998;0.997;0.996	D;D;P	0.80764	0.994;0.985;0.836	T	0.66885	-0.5810	10	0.59425	D	0.04	-20.2598	9.4557	0.38753	0.0:0.0:0.1784:0.8216	.	804;826;826	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	E	804;826;790	ENSP00000377619:K804E;ENSP00000299752:K826E	ENSP00000299752:K826E	K	-	1	0	CDH16	65499810	1.000000	0.71417	0.996000	0.52242	0.020000	0.10135	2.172000	0.42463	2.254000	0.74563	0.533000	0.62120	AAG			0.597	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268839.2		NM_004062		C	66942309	T	C	66942309	3	2	55	1	0	0	0	0	1	0	0	0	3103	1792	62	4	17	4	CDH16	16	66942309	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10	45652769	66942309	23412444	57	3957											
PSMD7	5713	broad.mit.edu	37	chr16	74335489	74335489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggtaccacacaggccCtaaactacacaagaatgaca	15	6	8	12	0	0	2	0	1	0	1	0	2	0	2	2	3	3	2	2	3	6	3			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:74335489C>A	ENST00000219313.4	+	4	436	c.296C>A	c.(295-297)cCt>cAt	p.P99H	PSMD7_ENST00000568615.2_Missense_Mutation_p.P99H|PSMD7_ENST00000540379.1_Missense_Mutation_p.P22H|PSMD7_ENST00000567958.1_Missense_Mutation_p.P99H	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	99	MPN.				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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CACACAGGCCCTAAACTACAC	0.368																																					p.P99H													.	PSMD7	29		0			c.C296A												120	116	117					16																	74335489		2198	4300	6498	SO:0001583	missense	5713	exon4			CAGGCCCTAAACT	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"Proteasome (prosome, macropain) subunits"	9565	protein-coding gene	gene with protein product	"Mov34 homolog"	157970	"proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.296C>A	16.37:g.74335489C>A	ENSP00000219313:p.Pro99His		67	0	0		70	0.06	4	NM_002811	193	0	0	D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016876	0.93404	.	.	ENSG00000103035	ENST00000219313;ENST00000540379	T;T	0.60797	0.16;0.16	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.83304	-0.0026	10	0.87932	D	0	-0.9975	19.8577	0.96767	0.0:1.0:0.0:0.0	.	99	P51665	PSD7_HUMAN	H	99;22	ENSP00000219313:P99H;ENSP00000443925:P22H	ENSP00000219313:P99H	P	+	2	0	PSMD7	72892990	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.747000	0.85070	2.700000	0.92200	0.467000	0.42956	CCT			0.368	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269010.2		NM_002811		A	74335489	C	A	74335489	3	1	55	1	0	0	0	0	1	0	0	0	12723	681	24	3	310	3	PSMD7	16	74335489	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	7393180	74335489	16019264	58	3958											
PKD1L2	114780	broad.mit.edu;mdanderson.org	37	chr16	81253925	81253925	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggcttaacagtggtGgccctaagcctcagagcaag	9	9	11	12	0	2	1	1	0	1	1	3	1	3	1	3	3	3	2	3	3	3	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:81253925G>T	ENST00000525539.1	-	0	50				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)	p.A17A(2)		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						TAACAGTGGTGGCCCTAAGCC	0.562																																					p.A17A													PKD1L2_ENST00000525539,rectum,carcinoma,0,2	PKD1L2	361	2	2	Substitution - coding silent(2)	large_intestine(2)	c.C51A												66	66	66					16																	81253925		2035	4194	6229			114780	exon1			AGTGGTGGCCCTA	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.81253925G>T			146	0	0		140	0.04	5	NM_001076780	0		0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37																																																																																						0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000387972.2				T	81253925	G	T	81253925	1	4	55	0	1	0	0	0	0	0	0	0	11982	1335	47	3		3	PKD1L2	16	81253925	RNA	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	6918436	81253925	9100828	59	3959											
ADAD2	161931	broad.mit.edu	37	chr16	84228102	84228102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatggggtggtctgccctgCgggcactgcgaatagcaaga	8	7	17	9	2	1	1	0	0	1	1	1	3	1	2	1	5	4	2	1	5	3	1	rs537250511		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr16:84228102C>T	ENST00000315906.5	+	2	525	c.473C>T	c.(472-474)gCg>gTg	p.A158V	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A230V	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	158	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GTCTGCCCTGCGGGCACTGCG	0.647													C|||	1	0.000199681	0	0	5008	,	,		18441	0		0	False		,,,				2504	0.001				p.A230V													.	ADAD2	46		0			c.C689T												33	33	33					16																	84228102		2200	4300	6500	SO:0001583	missense	161931	exon3			GCCCTGCGGGCAC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.473C>T	16.37:g.84228102C>T	ENSP00000325153:p.Ala158Val		57	0	0		45	0.07	3	NM_139174	3	0	0	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	C	3.912	-0.019799	0.07634	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.77098	-1.07;-1.07	4.15	-0.544	0.11847	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	1.239420	0.05654	N	0.585685	T	0.61060	0.2317	N	0.24115	0.695	0.09310	N	1	B;B	0.20261	0.007;0.043	B;B	0.15484	0.013;0.008	T	0.46442	-0.9191	10	0.40728	T	0.16	-1.5702	2.7852	0.05372	0.2033:0.4271:0.0:0.3697	.	158;230	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	V	158;230	ENSP00000325153:A158V;ENSP00000268624:A230V	ENSP00000268624:A230V	A	+	2	0	ADAD2	82785603	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.719000	0.04974	0.121000	0.18284	0.511000	0.50034	GCG			0.647	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433385.1		NM_139174		T	84228102	C	T	84228102	3	4	55	1	0	0	0	0	1	0	0	0	232	768	27	1	699	1	ADAD2	16	84228102	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	2974177	84228102	6126651	60	3960											
SMG6	23293	mdanderson.org	37	chr17	1968954	1968954	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctcctgccccttggccagGccgtccagctcattgatcac	5	10	9	17	1	3	1	2	1	1	0	5	1	4	1	6	2	2	1	6	2	0	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr17:1968954G>T	ENST00000263073.6	-	17	3905	c.3855C>A	c.(3853-3855)ggC>ggA	p.G1285G	SMG6_ENST00000544865.1_Silent_p.G1254G|SMG6_ENST00000536871.2_Silent_p.G377G|SMG6_ENST00000354901.4_Silent_p.G377G|SMG6_ENST00000573166.1_5'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1285	PINc.				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						CCTTGGCCAGGCCGTCCAGCT	0.587																																					p.G1285G	Melanoma(59;28 1088 11621 25887 46638 50814)												.	.			0			c.C3855A												37	33	35					17																	1968954		2203	4300	6503	SO:0001819	synonymous_variant	23293	exon17			GGCCAGGCCGTCC	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.3855C>A	17.37:g.1968954G>T			32	0	0		41	0.07	3	NM_017575	34	0	0	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																					0.587	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437826.3				T	1968954	G	T	1968954	2	4	55	1	0	0	0	0	0	0	0	1	14820	1190	42	2		2	SMG6	17	1968954	Silent	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10		1968954	79226256	61	3961											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		227	0.0220264317	5		193	0.08	16	NM_145301	22	0.77	17	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	55	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	13488133	15457087	65738123	62	3962											
CDC27	996	broad.mit.edu	37	chr17	45234323	45234323	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcctcctaataaactTcgaccagtttttggtttatt	8	17	7	9	1	0	0	0	0	0	0	3	1	2	0	3	2	1	3	3	2	4	8			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr17:45234323T>C	ENST00000066544.3	-	7	891	c.798A>G	c.(796-798)cgA>cgG	p.R266R	CDC27_ENST00000446365.2_Silent_p.R205R|CDC27_ENST00000531206.1_Silent_p.R266R|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000527547.1_Silent_p.R266R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTAATAAACTTCGACCAGTTT	0.358																																					p.R266R													.	CDC27	337		0			c.A798G												60	65	63					17																	45234323		2200	4293	6493	SO:0001819	synonymous_variant	996	exon7			TAAACTTCGACCA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.798A>G	17.37:g.45234323T>C			47	0.0212765957	1		60	0.07	4	NM_001114091	181	0	0	G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																					0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2				C	45234323	T	C	45234323	2	2	55	1	0	0	0	0	0	0	0	1	3068	1770	62	4		4	CDC27	17	45234323	Silent	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10	29777236	45234323	35960887	63	3963											
STRADA	92335	broad.mit.edu	37	chr17	61790804	61790804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattggaacaagcttctaGgttaatcctccgtacagtca	11	12	7	11	1	3	0	2	0	1	0	5	1	5	1	2	2	3	3	2	2	5	5			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr17:61790804G>T	ENST00000336174.6	-	6	422	c.310C>A	c.(310-312)Cta>Ata	p.L104I	STRADA_ENST00000245865.5_Missense_Mutation_p.L46I|STRADA_ENST00000447001.3_Missense_Mutation_p.L60I|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.L46I|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000582137.1_Missense_Mutation_p.L75I|STRADA_ENST00000392950.4_Missense_Mutation_p.L67I|STRADA_ENST00000579340.1_Missense_Mutation_p.L46I	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CAAGCTTCTAGGTTAATCCTC	0.443																																					p.L104I													.	STRADA	27		0			c.C310A												265	232	243					17																	61790804		2203	4300	6503	SO:0001583	missense	92335	exon6			CTTCTAGGTTAAT	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.310C>A	17.37:g.61790804G>T	ENSP00000336655:p.Leu104Ile		105	0	0		234	0.03	6	NM_001003787	81	0	0	B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109918	0.37242	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T;T	0.66099	-0.17;-0.17;-0.17;-0.17;-0.19	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067006	0.64402	D	0.000011	T	0.70193	0.3196	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;P;D;D;D	0.89917	0.987;0.998;0.999;0.935;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.978;0.999;0.998;0.912;0.997;0.997;0.999	T	0.71839	-0.4471	10	0.87932	D	0	.	8.4473	0.32849	0.2111:0.0:0.7889:0.0	.	75;60;46;46;67;67;104	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	I	104;46;60;67;66	ENSP00000336655:L104I;ENSP00000365000:L46I;ENSP00000398841:L60I;ENSP00000376677:L67I;ENSP00000245865:L66I	ENSP00000245865:L66I	L	-	1	2	STRADA	59144536	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.833000	0.27504	2.599000	0.87857	0.491000	0.48974	CTA			0.443	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443894.1				T	61790804	G	T	61790804	3	4	55	1	0	0	0	0	1	0	0	0	15347	991	35	3	1075	3	STRADA	17	61790804	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	16556481	61790804	19404406	64	3964											
FASN	2194	broad.mit.edu	37	chr17	80043188	80043188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcctgcggggtgggccGgcggcacaggaagagcgtgg	5	5	21	10	4	0	1	0	0	0	1	1	2	1	2	2	7	2	2	2	7	1	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr17:80043188G>A	ENST00000306749.2	-	24	4431	c.4213C>T	c.(4213-4215)Cgg>Tgg	p.R1405W	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1405					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)	GGGGTGGGCCGGCGGCACAGG	0.682																																					p.R1405W	Colon(59;314 1043 11189 28578 32273)												.	FASN	154		0			c.C4213T												16	22	20					17																	80043188		2182	4276	6458	SO:0001583	missense	2194	exon24			TGGGCCGGCGGCA	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.4213C>T	17.37:g.80043188G>A	ENSP00000304592:p.Arg1405Trp		156	0	0		222	0.02	5	NM_004104	225	0	0	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240092	0.58995	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.28255	1.62	4.49	4.49	0.54785	.	0.131469	0.51477	D	0.000093	T	0.47040	0.1424	M	0.78456	2.415	0.58432	D	0.999994	D	0.71674	0.998	P	0.50192	0.634	T	0.58561	-0.7615	10	0.72032	D	0.01	-44.4255	17.5028	0.87736	0.0:0.0:1.0:0.0	.	1405	P49327	FAS_HUMAN	W	1405;370	ENSP00000304592:R1405W	ENSP00000304592:R1405W	R	-	1	2	FASN	77636477	1.000000	0.71417	0.990000	0.47175	0.173000	0.22820	5.210000	0.65214	2.187000	0.69744	0.462000	0.41574	CGG			0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442369.1		NM_004104		A	80043188	G	A	80043188	3	1	55	1	0	0	0	0	1	0	0	0	5696	1115	39	1	3402	1	FASN	17	80043188	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	18252384	80043188	1152022	65	3965											
ZNF491	126069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11917208	11917208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggattgtctcagtttataccTtacccatgaacgaactcaca	12	12	6	11	1	2	1	2	1	1	0	3	3	2	2	2	1	4	1	2	1	5	5			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr19:11917208T>C	ENST00000323169.5	+	3	771	c.440T>C	c.(439-441)cTt>cCt	p.L147P	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	147					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						AGTTTATACCTTACCCATGAA	0.408																																					p.L147P													.	.			0			c.T440C												91	91	91					19																	11917208		2203	4300	6503	SO:0001583	missense	126069	exon3			TATACCTTACCCA	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.440T>C	19.37:g.11917208T>C	ENSP00000313443:p.Leu147Pro		77	0	0		99	0.13	13	NM_152356	2	0	0	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	t	8.980	0.975143	0.18736	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.19250	2.16	1.34	-2.68	0.06041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15955	0.0384	L	0.54323	1.7	0.09310	N	1	P	0.35456	0.502	B	0.36766	0.232	T	0.16571	-1.0398	9	0.31617	T	0.26	.	2.7375	0.05244	0.4058:0.0:0.2504:0.3439	.	147	Q8N8L2	ZN491_HUMAN	P	147	ENSP00000313443:L147P	ENSP00000313443:L147P	L	+	2	0	ZNF491	11778208	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.688000	0.37690	-1.138000	0.02884	-0.651000	0.03910	CTT			0.408	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344518.1		NM_152356		C	11917208	T	C	11917208	3	2	55	1	0	0	0	0	1	0	0	0	17965	1609	56	4	442	4	ZNF491	19	11917208	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10		11917208	47211775	66	3966											
ZNF799	90576	ucsc.edu	37	chr19	12501830	12501830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgtgattttgaaaggaaTagaaatcaataaaggctttc	15	15	8	3	0	1	3	1	2	0	1	2	4	1	4	0	2	0	1	0	2	7	7	rs537596404		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr19:12501830T>C	ENST00000430385.3	-	4	1582	c.1382A>G	c.(1381-1383)tAt>tGt	p.Y461C	ZNF799_ENST00000419318.1_Missense_Mutation_p.Y429C|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	461					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						TTGAAAGGAATAGAAATCAAT	0.383													T|||	1	0.000199681	8e-04	0	5008	,	,		22287	0		0	False		,,,				2504	0				p.Y461C													.	ZNF799	111		0			c.A1382G												69	75	73					19																	12501830		2201	4299	6500	SO:0001583	missense	90576	exon4			AAGGAATAGAAAT	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.1382A>G	19.37:g.12501830T>C	ENSP00000411084:p.Tyr461Cys		130	0.0076923077	1		184	0.03	5	NM_001080821	41	0.34	14		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	2.384	-0.341449	0.05243	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.15372	2.43;2.43	1.31	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	N	0.16130	0.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27739	-1.0065	9	0.62326	D	0.03	.	0.7224	0.00943	0.1532:0.2423:0.267:0.3376	.	461	Q96GE5	ZN799_HUMAN	C	429;461	ENSP00000415278:Y429C;ENSP00000411084:Y461C	ENSP00000415278:Y429C	Y	-	2	0	ZNF799	12362830	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-3.527000	0.00441	-2.535000	0.00489	0.352000	0.21897	TAT			0.383	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344099.2	rescued with RNA-seq	NM_001080821		C	12501830	T	C	12501830	3	2	55	1	0	0	0	0	1	0	0	0	18189	1406	49	4	553	4	ZNF799	19	12501830	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10	584622	12501830	46627153	67	3967			1	8		2	2	26	N	T_A	6.783432e-05
ZNF799	90576	ucsc.edu	37	chr19	12501855	12501855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaataaaggctttcccacAtttgcatttatagggtttct	11	16	6	8	0	2	0	1	0	1	0	3	0	3	0	1	2	1	3	1	2	5	7	rs201077492|rs79480756		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr19:12501855A>G	ENST00000430385.3	-	4	1557	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	ZNF799_ENST00000419318.1_Missense_Mutation_p.C421R|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	453					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						GCTTTCCCACATTTGCATTTA	0.388																																					p.C453R													.	ZNF799	111		0			c.T1357C												76	81	79					19																	12501855		2202	4299	6501	SO:0001583	missense	90576	exon4			TCCCACATTTGCA	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.1357T>C	19.37:g.12501855A>G	ENSP00000411084:p.Cys453Arg		134	0.0149253731	2		184	0.06	11	NM_001080821	49	0.37	18		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790257	0.50102	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	D;D	0.85955	-2.05;-2.05	1.31	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.87791	0.6266	H	0.95950	3.745	0.58432	D	0.999998	B	0.02656	0.0	B	0.10450	0.005	D	0.85733	0.1332	9	0.72032	D	0.01	.	6.6913	0.23174	1.0:0.0:0.0:0.0	.	453	Q96GE5	ZN799_HUMAN	R	421;453	ENSP00000415278:C421R;ENSP00000411084:C453R	ENSP00000415278:C421R	C	-	1	0	ZNF799	12362855	0.997000	0.39634	0.001000	0.08648	0.965000	0.64279	5.185000	0.65076	0.846000	0.35142	0.352000	0.21897	TGT			0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344099.2		NM_001080821		G	12501855	A	G	12501855	3	3	55	1	0	0	0	0	1	0	0	0	18189	217	8	4	578	4	ZNF799	19	12501855	Missense_Mutation	SNP	A	TCGA-2G-AAHT-01A-11D-A42Y-10	25	12501855	46627128	68	3968			1	8		2	2	26	N	T_A	6.783432e-05
ZSWIM4	65249	mdanderson.org	37	chr19	13915877	13915877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgcagtacctcatcagCgcccatcacactgaggtgct	8	10	9	14	2	3	1	3	1	0	0	4	1	3	1	2	1	4	3	2	1	1	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr19:13915877C>A	ENST00000254323.2	+	3	816	c.627C>A	c.(625-627)agC>agA	p.S209R	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	209							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACCTCATCAGCGCCCATCACA	0.622											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S209R													.	.			0			c.C627A												49	43	45					19																	13915877		2203	4300	6503	SO:0001583	missense	65249	exon3			CATCAGCGCCCAT	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.627C>A	19.37:g.13915877C>A	ENSP00000254323:p.Ser209Arg		45	0	0	691	44	0.07	3	NM_023072	19	0	0		Missense_Mutation	SNP	ENST00000254323.2	37	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487528	0.44249	.	.	ENSG00000132003	ENST00000254323	T	0.21543	2.0	4.81	-1.52	0.08637	.	0.000000	0.64402	D	0.000001	T	0.33352	0.0860	M	0.80746	2.51	0.80722	D	1	D	0.64830	0.994	P	0.53450	0.726	T	0.22208	-1.0223	10	0.87932	D	0	-24.9991	9.2682	0.37654	0.0:0.6025:0.0:0.3975	.	209	Q9H7M6	ZSWM4_HUMAN	R	209	ENSP00000254323:S209R	ENSP00000254323:S209R	S	+	3	2	ZSWIM4	13776877	0.000000	0.05858	0.990000	0.47175	0.237000	0.25408	-2.181000	0.01257	-0.419000	0.07439	-0.258000	0.10820	AGC			0.622	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457457.1		XM_031342		A	13915877	C	A	13915877	3	1	55	1	0	0	0	0	1	0	0	0	18266	767	27	1	637	1	ZSWIM4	19	13915877	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	1414022	13915877	45213106	69	3969											
ZNF429	353088	mdanderson.org	37	chr19	21720482	21720482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacaaatgtgaagaatgtGgcaaagcttttaaccggtcc	13	11	9	8	1	0	2	0	1	0	1	1	2	1	2	2	2	3	2	2	2	6	3			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr19:21720482G>T	ENST00000358491.4	+	4	1835	c.1627G>T	c.(1627-1629)Ggc>Tgc	p.G543C	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGAAGAATGTGGCAAAGCTTT	0.363																																					p.G543C													.	.			0			c.G1627T												42	47	45					19																	21720482		2135	4270	6405	SO:0001583	missense	353088	exon4			GAATGTGGCAAAG	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1627G>T	19.37:g.21720482G>T	ENSP00000351280:p.Gly543Cys		49	0	0		51	0.06	3	NM_001001415	23	0	0	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	9.220	1.033212	0.19590	.	.	ENSG00000197013	ENST00000358491	T	0.07908	3.15	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37019	0.0988	H	0.96916	3.905	0.26742	N	0.970369	D	0.89917	1.0	D	0.97110	1.0	T	0.12400	-1.0549	9	0.87932	D	0	.	6.65	0.22957	0.0:0.0:1.0:0.0	.	543	Q86V71	ZN429_HUMAN	C	543	ENSP00000351280:G543C	ENSP00000351280:G543C	G	+	1	0	ZNF429	21512322	1.000000	0.71417	0.275000	0.24674	0.274000	0.26718	3.744000	0.55112	0.293000	0.22520	0.298000	0.19748	GGC			0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463981.1		NM_001001415		T	21720482	G	T	21720482	3	4	55	1	0	0	0	0	1	0	0	0	17925	1348	47	3	1641	3	ZNF429	19	21720482	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	7804605	21720482	37408501	70	3970											
IRF2BP1	26145	mdanderson.org	37	chr19	46388367	46388367	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgctttggggcgcccgtgCcattcctctgcccggcctcg	2	10	12	17	4	1	0	0	0	1	0	3	0	2	0	5	3	3	1	5	3	0	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr19:46388367C>T	ENST00000302165.3	-	1	1009	c.666G>A	c.(664-666)tgG>tgA	p.W222*		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGCGCCCGTGCCATTCCTCTG	0.632																																					p.W222X													.	.			0			c.G666A												85	87	86					19																	46388367		2203	4300	6503	SO:0001587	stop_gained	26145	exon1			CCCGTGCCATTCC	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.666G>A	19.37:g.46388367C>T	ENSP00000307265:p.Trp222*		34	0	0		29	0.1	3	NM_015649	58	0	0	Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Nonsense_Mutation	SNP	ENST00000302165.3	37	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	C	39	7.590939	0.98378	.	.	ENSG00000170604	ENST00000302165	.	.	.	4.3	4.3	0.51218	.	0.094270	0.47093	U	0.000249	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2851	0.66240	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000307265:W222X	W	-	3	0	IRF2BP1	51080207	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.219000	0.78000	2.202000	0.70862	0.462000	0.41574	TGG			0.632	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461683.1		NM_015649		T	46388367	C	T	46388367	4	4	55	1	0	0	0	0	0	1	0	0	7844	740	26	2	1092	2	IRF2BP1	19	46388367	Nonsense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	24667885	46388367	12740616	71	3971											
MZF1	7593	mdanderson.org	37	chr19	59073497	59073497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctctggtggaagcggCggccacagtcctggcaggcg	5	7	18	11	3	1	0	0	0	1	0	2	1	2	1	2	7	2	2	2	7	1	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr19:59073497C>T	ENST00000215057.2	-	6	2707	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H	MZF1_ENST00000599369.1_Missense_Mutation_p.R716H|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	716					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GTGGAAGCGGCGGCCACAGTC	0.667																																					p.R716H													.	.			0			c.G2147A												32	30	31					19																	59073497		2199	4300	6499	SO:0001583	missense	7593	exon6			AAGCGGCGGCCAC	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.2147G>A	19.37:g.59073497C>T	ENSP00000215057:p.Arg716His		33	0	0		47	0.06	3	NM_003422	41	0	0	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926158	0.73327	.	.	ENSG00000099326	ENST00000215057	T	0.19669	2.13	3.42	3.42	0.39159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.216583	0.23635	N	0.046096	T	0.33673	0.0871	L	0.55017	1.72	0.33011	D	0.527589	D	0.71674	0.998	D	0.64687	0.928	T	0.43972	-0.9358	10	0.87932	D	0	-25.6473	6.792	0.23705	0.0:0.8739:0.0:0.1261	.	716	P28698	MZF1_HUMAN	H	716	ENSP00000215057:R716H	ENSP00000215057:R716H	R	-	2	0	MZF1	63765309	0.000000	0.05858	0.998000	0.56505	0.984000	0.73092	0.263000	0.18478	2.199000	0.70637	0.462000	0.41574	CGC			0.667	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467112.1		NM_198055		T	59073497	C	T	59073497	3	4	55	1	0	0	0	0	1	0	0	0	10124	768	27	1	61	1	MZF1	19	59073497	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	12685130	59073497	55486	72	3972											
RASSF2	9770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	4768332	4768332	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaggaacactttggagaTctgctcacatgggccctgga	10	10	11	10	0	2	1	1	0	1	1	2	4	2	3	1	4	2	1	1	4	2	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr20:4768332T>A	ENST00000379400.3	-	10	955	c.760A>T	c.(760-762)Atc>Ttc	p.I254F	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.I254F	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	254	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						ACTTTGGAGATCTGCTCACAT	0.567																																					p.I254F	Melanoma(158;1891 3343 50738)												.	.			0			c.A760T												133	109	117					20																	4768332		2203	4300	6503	SO:0001583	missense	9770	exon10			TGGAGATCTGCTC	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.760A>T	20.37:g.4768332T>A	ENSP00000368710:p.Ile254Phe		112	0	0		142	0.22	31	NM_014737	56	0.41	23	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531683	0.64972	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.16897	2.31;2.31	5.41	4.46	0.54185	Ras-association (3);	0.055638	0.64402	D	0.000001	T	0.23330	0.0564	M	0.75264	2.295	0.26539	N	0.974115	B	0.21381	0.055	B	0.29598	0.104	T	0.15321	-1.0441	10	0.48119	T	0.1	.	10.3241	0.43783	0.0:0.8386:0.0:0.1614	.	254	P50749	RASF2_HUMAN	F	254	ENSP00000368710:I254F;ENSP00000368684:I254F	ENSP00000368684:I254F	I	-	1	0	RASSF2	4716332	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	2.882000	0.48546	0.844000	0.35094	-0.215000	0.12644	ATC			0.567	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077828.1		NM_014737		A	4768332	T	A	4768332	3	1	55	1	0	0	0	0	1	0	0	0	13109	1435	50	5	232	5	RASSF2	20	4768332	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10		4768332	58257188	73	3973											
POFUT1	23509	mdanderson.org	37	chr20	30795757	30795757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgacatgggcgccgccGcgtgggcacggccgctgagc	4	3	19	15	7	0	1	0	1	0	0	0	2	0	1	4	4	1	2	4	4	0	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr20:30795757G>T	ENST00000375749.3	+	1	75	c.13G>T	c.(13-15)Gcg>Tcg	p.A5S	POFUT1_ENST00000375730.3_Missense_Mutation_p.A5S|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_5'UTR|PLAGL2_ENST00000246229.4_5'Flank	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	5					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGCGCCGCCGCGTGGGCACG	0.751																																					p.A5S													POFUT1,NS,carcinoma,-2,1	POFUT1	-2	1	0			c.G13T												5	7	7					20																	30795757		2108	4187	6295	SO:0001583	missense	23509	exon1			GCCGCCGCGTGGG	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"Fucosyltransferases"	14988	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 1"	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.13G>T	20.37:g.30795757G>T	ENSP00000364902:p.Ala5Ser		9	0	0		17	0.12	2	NM_172236	28	0	0	A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220941	0.95139	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T	0.31247	1.5	4.25	4.25	0.50352	.	0.166877	0.36482	N	0.002563	T	0.39655	0.1086	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79108	0.982;0.992	T	0.36696	-0.9737	10	0.54805	T	0.06	-16.3394	14.6072	0.68489	0.0:0.0:1.0:0.0	.	5;5	Q9H488;Q9H488-2	OFUT1_HUMAN;.	S	5	ENSP00000364902:A5S	ENSP00000364882:A5S	A	+	1	0	POFUT1	30259418	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.903000	0.69877	2.182000	0.69389	0.563000	0.77884	GCG			0.751	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078613.1		NM_015352		T	30795757	G	T	30795757	3	4	55	1	0	0	0	0	1	0	0	0	12200	1087	38	1	15	1	POFUT1	20	30795757	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	26027425	30795757	32229763	74	3974											
CDH26	60437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	58560110	58560110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactgtggagaaccgtcaCtgtcatccacgaccaccgtt	9	8	11	13	3	2	1	2	0	0	1	3	4	3	2	4	2	1	1	4	2	1	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr20:58560110C>T	ENST00000244047.5	+	7	1074	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	CDH26_ENST00000348616.4_Silent_p.L255L			Q8IXH8	CAD26_HUMAN	cadherin 26	255	Cadherin 2. {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)			AGAACCGTCACTGTCATCCAC	0.542																																					p.L255L													.	.			0			c.C763T												66	56	59					20																	58560110		2203	4300	6503	SO:0001819	synonymous_variant	60437	exon7			CCGTCACTGTCAT	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.763C>T	20.37:g.58560110C>T			106	0	0		143	0.14	20	NM_177980	0		0	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37																																																																																						0.542	CDH26-201	KNOWN	basic	protein_coding	protein_coding				NM_177980		T	58560110	C	T	58560110	2	4	55	1	0	0	0	0	0	0	0	1	3112	564	20	3		3	CDH26	20	58560110	Silent	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	27764353	58560110	4465410	75	3975											
KRTAP10-10	353333	mdanderson.org	37	chr21	46057778	46057778	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcaggcctgctgtgtGcctgtctgctctaagtccgt	4	12	12	13	1	2	0	0	0	2	0	3	0	3	0	4	1	5	3	4	1	1	1			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr21:46057778G>T	ENST00000380095.1	+	1	506	c.444G>T	c.(442-444)gtG>gtT	p.V148V	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	148	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCTGCTGTGTGCCTGTCTGCT	0.612																																					p.V148V													.	.			0			c.G444T												304	273	283					21																	46057778		2203	4300	6503	SO:0001819	synonymous_variant	353333	exon1			CTGTGTGCCTGTC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.444G>T	21.37:g.46057778G>T			59	0	0		75	0.05	4	NM_181688	0		0		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																					0.612	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688		T	46057778	G	T	46057778	2	4	55	1	0	0	0	0	0	0	0	1	8521	1306	46	2		2	KRTAP10-10	21	46057778	Silent	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10		46057778	2072117	76	3976											
MCM3AP	8888	broad.mit.edu	37	chr21	47704596	47704596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtaaaatttgaagtggtaGctgaactacttgttacttga	13	14	10	4	0	0	3	0	3	0	0	0	3	0	3	0	2	4	4	0	2	7	7			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr21:47704596G>T	ENST00000397708.1	-	2	859	c.605C>A	c.(604-606)gCt>gAt	p.A202D	YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A202D|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	202	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGAAGTGGTAGCTGAACTACT	0.398																																					p.A202D													.	MCM3AP	146		0			c.C605A												67	73	71					21																	47704596		2203	4300	6503	SO:0001583	missense	8888	exon1			GTGGTAGCTGAAC	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.605C>A	21.37:g.47704596G>T	ENSP00000380820:p.Ala202Asp		101	0	0		134	0.04	5	NM_003906	46	0	0	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	6.993	0.553401	0.13374	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18016	2.24;2.24	5.21	2.07	0.26955	.	1.325240	0.04634	N	0.404066	T	0.13970	0.0338	N	0.24115	0.695	0.09310	N	1	B	0.27498	0.18	B	0.27076	0.076	T	0.36212	-0.9757	10	0.27082	T	0.32	-1.2279	10.5566	0.45121	0.0814:0.2649:0.6537:0.0	.	202	O60318	MCM3A_HUMAN	D	202	ENSP00000380820:A202D;ENSP00000291688:A202D	ENSP00000291688:A202D	A	-	2	0	MCM3AP	46529024	0.037000	0.19845	0.051000	0.19133	0.442000	0.32017	0.679000	0.25291	0.548000	0.28955	0.561000	0.74099	GCT			0.398	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207254.1		NM_003906		T	47704596	G	T	47704596	3	4	55	1	0	0	0	0	1	0	0	0	9404	971	34	2	5449	2	MCM3AP	21	47704596	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	1646818	47704596	425299	77	3977											
OR11H1	81061	bcgsc.ca;mdanderson.org	37	chr22	16449645	16449645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggctccattccctgttaTagtcagtgcatatgttgtag	9	15	9	8	0	1	0	1	0	0	0	3	0	3	0	2	1	1	5	2	1	5	6	rs145243620		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr22:16449645T>C	ENST00000252835.4	-	1	160	c.160A>G	c.(160-162)Ata>Gta	p.I54V		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	54						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(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TTCCCTGTTATAGTCAGTGCA	0.408																																					p.I54V													.	OR11H1	44		0			c.A160G							T	VAL/ILE	6,2996		0,6,1495	102	101	102		160	-4.1	1	22	dbSNP_134	102	0,6322		0,0,3161	no	missense	OR11H1	NM_001005239.1	29	0,6,4656	CC,CT,TT		0.0,0.1999,0.0644	benign	54/327	16449645	6,9318	1501	3161	4662	SO:0001583	missense	81061	exon1			CTGTTATAGTCAG	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"GPCR / Class A : Olfactory receptors"	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.160A>G	22.37:g.16449645T>C	ENSP00000252835:p.Ile54Val		540	0	0		554	0.08	43	NM_001005239	0		0	Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	t	0.366	-0.936708	0.02340	0.001999	0.0	ENSG00000130538	ENST00000252835	T	0.00531	6.76	2.19	-4.09	0.03951	.	1.066260	0.07434	N	0.896197	T	0.00241	0.0007	N	0.04373	-0.215	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.31223	-0.9951	10	0.33141	T	0.24	.	3.9849	0.09511	0.0:0.3122:0.4163:0.2715	.	54	Q8NG94	O11H1_HUMAN	V	54	ENSP00000252835:I54V	ENSP00000252835:I54V	I	-	1	0	OR11H1	14829645	0.000000	0.05858	0.978000	0.43139	0.082000	0.17680	-4.465000	0.00229	-0.424000	0.07382	-0.623000	0.04022	ATA			0.408	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000074923.2		NM_001005239		C	16449645	T	C	16449645	3	2	55	1	0	0	0	0	1	0	0	0	10943	1406	49	4	822	4	OR11H1	22	16449645	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10		16449645	34854921	78	3978											
DGCR6	8214	mdanderson.org	37	chr22	18897765	18897765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctgcctgtgcttcaggcgGctcagcagcgagaactagag	9	7	13	12	2	2	2	2	0	0	2	2	3	2	2	2	2	5	3	2	2	2	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr22:18897765G>A	ENST00000331444.6	+	3	504	c.352G>A	c.(352-354)Gct>Act	p.A118T	DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	118					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GCTTCAGGCGGCTCAGCAGCG	0.677																																					p.A118T													.	.			0			c.G352A												21	24	23					22																	18897765		2200	4299	6499	SO:0001583	missense	8214	exon3			CAGGCGGCTCAGC	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.352G>A	22.37:g.18897765G>A	ENSP00000331681:p.Ala118Thr		37	0	0		50	0.06	3	NM_005675	24	0	0	B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	37	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	g	5.459	0.269757	0.10349	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.29142	1.58	3.61	3.61	0.41365	.	0.131192	0.52532	D	0.000070	T	0.14442	0.0349	N	0.12569	0.235	0.30957	N	0.724121	B	0.18310	0.027	B	0.22152	0.038	T	0.14282	-1.0478	10	0.14656	T	0.56	-8.8077	7.0871	0.25264	0.125:0.0:0.875:0.0	.	118	Q14129	DGCR6_HUMAN	T	118;38	ENSP00000331681:A118T	ENSP00000331681:A118T	A	+	1	0	DGCR6	17277765	0.060000	0.20803	0.994000	0.49952	0.079000	0.17450	1.767000	0.38501	2.035000	0.60131	0.400000	0.26472	GCT			0.677	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316631.2		NM_005675		A	18897765	G	A	18897765	3	1	55	1	0	0	0	0	1	0	0	0	4467	1203	42	2	362	2	DGCR6	22	18897765	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	2448120	18897765	32406801	79	3979											
RTN4R	65078	mdanderson.org	37	chr22	20229344	20229344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagtcaccagtcccgccacCcccgctgcctgcctggccca	5	6	9	21	2	1	1	1	1	0	0	2	1	2	1	8	1	2	1	8	1	0	0			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr22:20229344C>T	ENST00000043402.7	-	2	1750	c.1312G>A	c.(1312-1314)Ggt>Agt	p.G438S	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	438	Poly-Gly.				axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GTCCCGCCACCCCCGCTGCCT	0.711																																					p.G438S													.	.			0			c.G1312A												9	8	8					22																	20229344		2136	4208	6344	SO:0001583	missense	65078	exon2			CGCCACCCCCGCT	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.1312G>A	22.37:g.20229344C>T	ENSP00000043402:p.Gly438Ser		51	0	0		59	0.05	3	NM_023004	18	0	0	D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	CCDS13777.1	.	.	.	.	.	.	.	.	.	.	C	7.470	0.646568	0.14451	.	.	ENSG00000040608	ENST00000043402	T	0.60299	0.2	3.02	1.95	0.26073	.	.	.	.	.	T	0.34774	0.0909	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.24657	-1.0154	9	0.06494	T	0.89	.	6.4138	0.21705	0.0:0.8542:0.0:0.1458	.	438	Q9BZR6	RTN4R_HUMAN	S	438	ENSP00000043402:G438S	ENSP00000043402:G438S	G	-	1	0	RTN4R	18609344	0.000000	0.05858	0.073000	0.20177	0.443000	0.32047	0.598000	0.24074	0.577000	0.29470	0.305000	0.20034	GGT			0.711	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318950.2				T	20229344	C	T	20229344	3	4	55	1	0	0	0	0	1	0	0	0	13753	623	22	3	113	3	RTN4R	22	20229344	Missense_Mutation	SNP	C	TCGA-2G-AAHT-01A-11D-A42Y-10	1331579	20229344	31075222	80	3980											
CELSR1	9620	broad.mit.edu	37	chr22	46832175	46832175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaagccgttcctttccTgagtggcaaacctgtggggc	8	9	13	11	1	0	1	0	1	0	0	2	2	2	1	4	3	3	3	4	3	3	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chr22:46832175T>C	ENST00000262738.3	-	4	4417	c.4418A>G	c.(4417-4419)cAg>cGg	p.Q1473R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1473	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTTCCTTTCCTGAGTGGCAAA	0.577																																					p.Q1473R													.	CELSR1	242		0			c.A4418G												77	60	66					22																	46832175		2203	4300	6503	SO:0001583	missense	9620	exon4			CTTTCCTGAGTGG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4418A>G	22.37:g.46832175T>C	ENSP00000262738:p.Gln1473Arg		53	0	0		81	0.04	3	NM_014246	17	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.486005	0.01018	.	.	ENSG00000075275	ENST00000262738	T	0.76060	-0.99	4.73	-0.632	0.11523	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.405610	0.21432	N	0.074628	T	0.34803	0.0910	N	0.00595	-1.35	0.24844	N	0.992446	B	0.06786	0.001	B	0.11329	0.006	T	0.42378	-0.9455	10	0.11182	T	0.66	.	9.2835	0.37742	0.0:0.5706:0.0:0.4294	.	1473	Q9NYQ6	CELR1_HUMAN	R	1473	ENSP00000262738:Q1473R	ENSP00000262738:Q1473R	Q	-	2	0	CELSR1	45210839	0.004000	0.15560	0.387000	0.26183	0.169000	0.22640	0.199000	0.17237	-0.010000	0.14271	-0.388000	0.06559	CAG			0.577	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		C	46832175	T	C	46832175	3	2	55	1	0	0	0	0	1	0	0	0	3223	1580	55	4	4754	4	CELSR1	22	46832175	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10	26602831	46832175	4472391	81	3981											
MID2	11043	mdanderson.org	37	chrX	107084386	107084386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtctcctactgtgaccGttgcctgcgggccacgcacc	5	9	12	15	3	1	2	0	2	1	0	2	2	1	2	5	2	3	2	5	2	1	2			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chrX:107084386G>A	ENST00000262843.6	+	2	1039	c.491G>A	c.(490-492)cGt>cAt	p.R164H	MID2_ENST00000443968.2_Missense_Mutation_p.R164H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	164					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						TACTGTGACCGTTGCCTGCGG	0.572																																					p.R164H													.	.			0			c.G491A												58	49	52					X																	107084386		2203	4300	6503	SO:0001583	missense	11043	exon2			GTGACCGTTGCCT		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.491G>A	X.37:g.107084386G>A	ENSP00000262843:p.Arg164His		64	0	0		54	0.06	3	NM_052817	4	0	0	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695938	0.48202	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	D;D;D	0.87571	-2.27;-2.27;-2.27	5.94	5.94	0.96194	Zinc finger, B-box (1);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	L	0.47190	1.495	0.41263	D	0.986791	D;D	0.63046	0.992;0.982	P;P	0.53185	0.72;0.615	D	0.89943	0.4074	10	0.72032	D	0.01	.	16.5117	0.84287	0.0:0.0:1.0:0.0	.	164;164	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	H	144;164;164	ENSP00000410730:R144H;ENSP00000262843:R164H;ENSP00000413976:R164H	ENSP00000262843:R164H	R	+	2	0	MID2	106971042	0.939000	0.31865	1.000000	0.80357	0.995000	0.86356	2.621000	0.46418	2.506000	0.84524	0.600000	0.82982	CGT			0.572	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057852.2		NM_012216		A	107084386	G	A	107084386	3	1	55	1	0	0	0	0	1	0	0	0	9594	1145	40	1	497	1	MID2	23	107084386	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10		107084386	48186174	82	3982											
GABRE	2564	broad.mit.edu	37	chrX	151123181	151123181	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagctggtacctacaagtTaaggcaaacaagccagtaga	16	6	9	10	0	0	1	0	0	0	1	0	1	0	1	3	2	5	5	3	2	7	4			TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chrX:151123181T>A	ENST00000370328.3	-	9	1566	c.1513A>T	c.(1513-1515)Aac>Tac	p.N505Y	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR|AF274855.1_ENST00000582865.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	505					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACCTACAAGTTAAGGCAAACA	0.542																																					p.N505Y													.	GABRE	141		0			c.A1513T												20	20	20					X																	151123181		2202	4293	6495	SO:0001583	missense	2564	exon9			ACAAGTTAAGGCA	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1513A>T	X.37:g.151123181T>A	ENSP00000359353:p.Asn505Tyr		114	0.0614035088	7		110	0.13	14	NM_004961	0		0	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	T	9.256	1.041959	0.19748	.	.	ENSG00000102287	ENST00000370328	T	0.79749	-1.3	5.48	3.06	0.35304	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.350050	0.20965	N	0.082496	T	0.75496	0.3857	N	0.17082	0.46	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68663	-0.5349	10	0.17369	T	0.5	.	3.3368	0.07103	0.3839:0.125:0.0:0.4911	.	505	P78334	GBRE_HUMAN	Y	505	ENSP00000359353:N505Y	ENSP00000359353:N505Y	N	-	1	0	GABRE	150873837	1.000000	0.71417	0.805000	0.32314	0.494000	0.33585	4.991000	0.63883	0.206000	0.20587	0.486000	0.48141	AAC			0.542	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060903.1		NM_004961, NM_021990, NM_021984		A	151123181	T	A	151123181	3	1	55	1	0	0	0	0	1	0	0	0	6183	1754	61	5	11	5	GABRE	23	151123181	Missense_Mutation	SNP	T	TCGA-2G-AAHT-01A-11D-A42Y-10	44038795	151123181	4147379	83	3983											
ABCD1	215	mdanderson.org	37	chrX	153008731	153008731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgagcatcgacgtggaagGcaagatcttccaggcggcca	10	6	14	11	4	1	2	0	1	1	1	3	4	2	3	2	4	1	2	2	4	2	1	rs200460000		TCGA-2G-AAHT-01A-11D-A42Y-10	TCGA-2G-AAHT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	17178935-8114-4de7-abd2-9f4df326a495	9dd4b0d8-774d-4b6c-b2d1-f75b413982d5	g.chrX:153008731G>T	ENST00000218104.3	+	9	2321	c.1922G>T	c.(1921-1923)gGc>gTc	p.G641V	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	641	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACGTGGAAGGCAAGATCTTC	0.677																																					p.G641V													.	.			0			c.G1922T												25	22	23					X																	153008731		2200	4296	6496	SO:0001583	missense	215	exon9			TGGAAGGCAAGAT	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.1922G>T	X.37:g.153008731G>T	ENSP00000218104:p.Gly641Val		59	0.0169491525	1		62	0.15	9	NM_000033	22	0	0	Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615756	0.87359	.	.	ENSG00000101986	ENST00000218104	D	0.99839	-7.07	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.074917	0.51477	D	0.000084	D	0.99725	0.9893	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.97118	0.9809	10	0.72032	D	0.01	-32.1863	16.4303	0.83840	0.0:0.0:1.0:0.0	.	641	P33897	ABCD1_HUMAN	V	641	ENSP00000218104:G641V	ENSP00000218104:G641V	G	+	2	0	ABCD1	152661925	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.349000	0.97066	2.221000	0.72209	0.523000	0.50628	GGC			0.677	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061041.1		NM_000033		T	153008731	G	T	153008731	3	4	55	1	0	0	0	0	1	0	0	0	60	1203	42	2	1956	2	ABCD1	23	153008731	Missense_Mutation	SNP	G	TCGA-2G-AAHT-01A-11D-A42Y-10	1885550	153008731	2261829	84	3984											
XKR8	55113	broad.mit.edu	37	chr1	28293362	28293362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaacgtggctgagggccGcacccgaggccgggccatca	7	5	15	14	4	2	1	2	1	0	0	2	2	2	1	4	4	1	3	4	4	1	1	rs147277716		TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr1:28293362G>A	ENST00000373884.5	+	3	1447	c.839G>A	c.(838-840)cGc>cAc	p.R280H		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	280					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCTGAGGGCCGCACCCGAGGC	0.642																																					p.R280H													.	XKR8	15		0			c.G839A							G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	27	27	27		839	-9.5	0.2	1	dbSNP_134	27	0,8600		0,0,4300	no	missense	XKR8	NM_018053.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	280/396	28293362	2,13004	2203	4300	6503	SO:0001583	missense	55113	exon3			AGGGCCGCACCCG	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.839G>A	1.37:g.28293362G>A	ENSP00000362991:p.Arg280His		88	0.0113636364	1		72	0.04	3	NM_018053	34	0	0		Missense_Mutation	SNP	ENST00000373884.5	37	CCDS315.1	.	.	.	.	.	.	.	.	.	.	G	1.796	-0.478334	0.04414	4.54E-4	0.0	ENSG00000158156	ENST00000373884	T	0.66460	-0.21	4.73	-9.46	0.00597	.	0.976052	0.08445	N	0.944882	T	0.49847	0.1581	N	0.25426	0.745	0.22266	N	0.999241	B	0.18310	0.027	B	0.14578	0.011	T	0.36578	-0.9742	10	0.27082	T	0.32	.	18.3907	0.90483	0.195:0.0862:0.7189:0.0	.	280	Q9H6D3	XKR8_HUMAN	H	280	ENSP00000362991:R280H	ENSP00000362991:R280H	R	+	2	0	XKR8	28165949	0.000000	0.05858	0.153000	0.22517	0.188000	0.23474	-1.137000	0.03219	-2.627000	0.00436	-2.769000	0.00120	CGC			0.642	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011175.1		NM_018053		A	28293362	G	A	28293362	3	1	56	1	0	0	0	0	1	0	0	0	17461	1087	38	1	849	1	XKR8	1	28293362	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		28293362	220957259	1	3985											
CELF3	11189	broad.mit.edu	37	chr1	151678746	151678746	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgttgaggtggtggtggggg	1	13	20	7	0	0	1	0	1	0	0	0	1	0	1	0	5	7	8	0	5	0	1			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr1:151678746C>T	ENST00000290583.4	-	10	1873	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Silent_p.Q155Q|CELF3_ENST00000290585.4_Silent_p.Q310Q|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	360	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgctgttgAGGTG	0.652																																					p.Q360Q													.	CELF3	49		0			c.G1080A												19	21	20					1																	151678746		2199	4294	6493	SO:0001819	synonymous_variant	11189	exon10			CTGCTGCTGTTGA	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1080G>A	1.37:g.151678746C>T			22	0	0		37	0.14	5	NM_007185	1	0	0	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	8.446	0.851874	0.17034	.	.	ENSG00000159409	ENST00000420342	.	.	.	4.18	3.18	0.36537	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-1.649	8.7523	0.34622	0.0:0.876:0.0:0.124	.	.	.	.	N	361	.	.	S	-	2	0	CELF3	149945370	.	.	1.000000	0.80357	0.943000	0.58893	.	.	2.183000	0.69458	0.655000	0.94253	AGC			0.652	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000036663.2		NM_007185		T	151678746	C	T	151678746	2	4	56	1	0	0	0	0	0	0	0	1	3219	796	28	2		2	CELF3	1	151678746	Silent	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10	123385384	151678746	97571875	2	3986											
C1orf61	10485	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	156384450	156384450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccatttcactcaccgccCgggagctgtccgtggtgctg	4	9	13	15	4	2	0	2	0	0	0	3	1	3	1	4	3	2	2	4	3	0	1			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr1:156384450C>T	ENST00000368243.1	-	4	283	c.167G>A	c.(166-168)cGg>cAg	p.R56Q		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	56						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					ACTCACCGCCCGGGAGCTGTC	0.557											OREG0006902	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=C1orf61|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.R56Q													.	.			0			c.G167A												33	31	31					1																	156384450		2203	4300	6503	SO:0001583	missense	10485	exon4			ACCGCCCGGGAGC		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"contingent replication of cDNA-4", "transcriptional activator of the c fos promoter"					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.167G>A	1.37:g.156384450C>T	ENSP00000357226:p.Arg56Gln		60	0	0	1778	78	0.26	20	NM_006365	1	1	1	B1ALL5|B1ALL8	Missense_Mutation	SNP	ENST00000368243.1	37	CCDS1142.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.40|12.40	1.927213|1.927213	0.34002|0.34002	.|.	.|.	ENSG00000125462|ENSG00000125462	ENST00000368242|ENST00000310027;ENST00000368243;ENST00000357975	.|.	.|.	.|.	3.48|3.48	-6.97|-6.97	0.01616|0.01616	.|.	.|.	.|.	.|.	.|.	T|T	0.07188|0.07188	0.0182|0.0182	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B	.|0.24368	.|0.102	.|B	.|0.13407	.|0.009	T|T	0.11966|0.11966	-1.0566|-1.0566	5|8	.|0.36615	.|T	.|0.2	.|.	5.1642|5.1642	0.15077|0.15077	0.2545:0.1828:0.0:0.5628|0.2545:0.1828:0.0:0.5628	.|.	.|56	.|Q13536	.|CROC4_HUMAN	R|Q	88|70;56;69	.|.	.|ENSP00000310651:R70Q	G|R	-|-	1|2	0|0	C1orf61|C1orf61	154651074|154651074	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.984000|0.984000	0.73092|0.73092	-1.949000|-1.949000	0.01532|0.01532	-2.214000|-2.214000	0.00734|0.00734	-0.258000|-0.258000	0.10820|0.10820	GGG|CGG			0.557	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075988.1		NM_006365		T	156384450	C	T	156384450	3	4	56	1	0	0	0	0	1	0	0	0	2054	652	23	1	319	1	C1orf61	1	156384450	Missense_Mutation	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10	4705704	156384450	92866171	3	3987											
SNRNP200	23020	hgsc.bcm.edu;bcgsc.ca	37	chr2	96943998	96943998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggagattgtcttcatGgtgccggatgggaatgttct	7	13	13	8	1	4	1	2	0	2	1	4	4	4	3	2	4	1	1	2	4	1	3			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr2:96943998G>T	ENST00000323853.5	-	39	5664	c.5587C>A	c.(5587-5589)Cat>Aat	p.H1863N	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1863	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTGTCTTCATGGTGCCGGATG	0.537																																					p.H1863N													.	.			0			c.C5587A												195	164	175					2																	96943998		2203	4300	6503	SO:0001583	missense	23020	exon39			CTTCATGGTGCCG	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5587C>A	2.37:g.96943998G>T	ENSP00000317123:p.His1863Asn		79	0	0		93	0.06	6	NM_014014	261	0	0	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323663	0.60634	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.56275	0.47	5.24	5.24	0.73138	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	L	0.37800	1.135	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23048	-1.0199	10	0.36615	T	0.2	-17.0802	16.7058	0.85371	0.0:0.0:1.0:0.0	.	1863	O75643	U520_HUMAN	N	1863;322;446	ENSP00000317123:H1863N	ENSP00000317123:H1863N	H	-	1	0	SNRNP200	96307725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.244000	0.95423	2.884000	0.98904	0.655000	0.94253	CAT			0.537	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252846.2		NM_014014		T	96943998	G	T	96943998	3	4	56	1	0	0	0	0	1	0	0	0	14875	1348	47	3	851	3	SNRNP200	2	96943998	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		96943998	146255375	4	3988											
POLR1B	84172	broad.mit.edu	37	chr2	113333030	113333030	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagatggaacgggatgcGcttttagctcatggtacatc	9	10	15	7	2	1	1	1	0	0	1	2	4	1	3	0	5	4	3	0	5	3	3			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr2:113333030G>T	ENST00000263331.5	+	15	3712	c.3132G>T	c.(3130-3132)gcG>gcT	p.A1044A	POLR1B_ENST00000409894.3_Silent_p.A861A|POLR1B_ENST00000541869.1_Silent_p.A1082A|POLR1B_ENST00000417433.2_Silent_p.A988A|POLR1B_ENST00000537335.1_Silent_p.A833A	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1044					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						AACGGGATGCGCTTTTAGCTC	0.512																																					p.A1044A	Ovarian(16;256 576 9537 23969 41147)												POLR1B,NS,carcinoma,0,1	POLR1B	95	1	0			c.G3132T												178	176	177					2																	113333030		2203	4300	6503	SO:0001819	synonymous_variant	84172	exon15			GGATGCGCTTTTA	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.3132G>T	2.37:g.113333030G>T			155	0	0		169	0.02	4	NM_019014	34	0	0	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	CCDS2097.1																																																																																					0.512	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254083.1		NM_019014		T	113333030	G	T	113333030	2	4	56	1	0	0	0	0	0	0	0	1	12227	1074	38	1		1	POLR1B	2	113333030	Silent	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10	16389032	113333030	129866343	5	3989											
GAL3ST2	64090	hgsc.bcm.edu;broad.mit.edu	37	chr2	242742846	242742846	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcctccttcatctactaCaaaacctacgcccccgcctt	9	10	4	18	2	2	0	1	0	1	0	4	1	4	0	6	0	4	0	6	0	5	5			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr2:242742846C>G	ENST00000192314.6	+	4	593	c.462C>G	c.(460-462)taC>taG	p.Y154*	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	154					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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)		TCATCTACTACAAAACCTACG	0.617																																					p.Y154X													.	.			0			c.C462G												40	39	40					2																	242742846		2203	4299	6502	SO:0001587	stop_gained	64090	exon4			CTACTACAAAACC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.462C>G	2.37:g.242742846C>G	ENSP00000192314:p.Tyr154*		131	0	0		181	0.22	39	NM_022134	0		0	Q17RK0|Q57Z52	Nonsense_Mutation	SNP	ENST00000192314.6	37	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850854	0.91277	.	.	ENSG00000154252	ENST00000192314	.	.	.	4.35	3.46	0.39613	.	0.247666	0.28683	N	0.014490	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.9883	11.4695	0.50259	0.0:0.9092:0.0:0.0907	.	.	.	.	X	154	.	ENSP00000192314:Y154X	Y	+	3	2	GAL3ST2	242391519	0.522000	0.26266	0.807000	0.32361	0.572000	0.35998	0.891000	0.28309	0.929000	0.37192	0.449000	0.29647	TAC			0.617	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322792.1		NM_022134		G	242742846	C	G	242742846	4	3	56	1	0	0	0	0	0	1	0	0	6212	489	17	5	476	5	GAL3ST2	2	242742846	Nonsense_Mutation	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10	129409816	242742846	456527	6	3990											
KTELC1	56983	broad.mit.edu	37	chr3	119204180	119204180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctatattcttaggtcagCagcacagtggccatggaaaa	13	11	9	8	0	3	0	1	0	2	0	3	1	3	1	1	3	2	2	1	3	5	5			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr3:119204180C>T	ENST00000295588.4	+	6	668	c.584C>T	c.(583-585)gCa>gTa	p.A195V		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	195					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						CTTAGGTCAGCAGCACAGTGG	0.313																																					p.A195V													.	POGLUT1	32		0			c.C584T												85	94	91					3																	119204180		2203	4300	6503	SO:0001583	missense	56983	exon6			GGTCAGCAGCACA	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.584C>T	3.37:g.119204180C>T	ENSP00000295588:p.Ala195Val		289	0.0034602076	1		262	0.02	6	NM_152305	8	0	0	B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373092	0.61624	.	.	ENSG00000163389	ENST00000295588	T	0.23754	1.89	5.32	5.32	0.75619	.	0.122334	0.53938	D	0.000042	T	0.27731	0.0682	L	0.43646	1.37	0.47511	D	0.99944	B	0.31859	0.343	B	0.37731	0.257	T	0.02966	-1.1088	10	0.35671	T	0.21	-16.1663	14.8705	0.70453	0.0:1.0:0.0:0.0	.	195	Q8NBL1	PGLT1_HUMAN	V	195	ENSP00000295588:A195V	ENSP00000295588:A195V	A	+	2	0	POGLUT1	120686870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.013000	0.64023	2.634000	0.89283	0.655000	0.94253	GCA			0.313	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355034.2		NM_152305		T	119204180	C	T	119204180	3	4	56	1	0	0	0	0	1	0	0	0	8598	710	25	2	606	2	KTELC1	3	119204180	Missense_Mutation	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10		119204180	78818250	7	3991											
MSL2	55167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	135871188	135871188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaatgctgagggtgctttCagacattggagataaactag	13	10	12	6	0	1	3	1	1	0	2	1	4	1	3	0	2	4	3	0	2	4	4			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr3:135871188C>T	ENST00000309993.2	-	2	1267	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	MSL2_ENST00000434835.2_Missense_Mutation_p.E105K	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	179					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AGGGTGCTTTCAGACATTGGA	0.398																																					p.E179K													.	.			0			c.G535A												73	68	70					3																	135871188		2203	4300	6503	SO:0001583	missense	55167	exon2			TGCTTTCAGACAT	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.535G>A	3.37:g.135871188C>T	ENSP00000311827:p.Glu179Lys		126	0	0		132	0.21	28	NM_018133	14	0.36	5	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881696	0.33255	.	.	ENSG00000174579	ENST00000309993;ENST00000434835;ENST00000481989;ENST00000491050	.	.	.	6.03	5.16	0.70880	.	0.244651	0.35013	N	0.003506	T	0.40522	0.1120	N	0.19112	0.55	0.46149	D	0.998898	B	0.20671	0.047	B	0.15484	0.013	T	0.24905	-1.0147	9	0.35671	T	0.21	-5.6657	10.1563	0.42825	0.0:0.793:0.1358:0.0712	.	179	Q9HCI7	MSL2_HUMAN	K	179;105;105;105	.	ENSP00000311827:E179K	E	-	1	0	MSL2	137353878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.615000	0.54167	1.551000	0.49450	0.655000	0.94253	GAA			0.398	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357347.1		NM_018133		T	135871188	C	T	135871188	3	4	56	1	0	0	0	0	1	0	0	0	9894	835	29	3	1202	3	MSL2	3	135871188	Missense_Mutation	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10	16667008	135871188	62151242	8	3992											
ZBBX	79740	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	167034805	167034805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttacatcatccagttcGactatctttagagatggttc	10	14	7	10	1	2	1	1	0	1	1	5	3	3	1	1	1	1	3	1	1	3	6			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr3:167034805G>A	ENST00000392766.2	-	14	1522	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	ZBBX_ENST00000392767.2_Silent_p.V394V|ZBBX_ENST00000469220.1_5'UTR|ZBBX_ENST00000392764.1_Silent_p.V365V|ZBBX_ENST00000455345.2_Silent_p.V394V|ZBBX_ENST00000307529.5_Silent_p.V394V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	394						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						CATCCAGTTCGACTATCTTTA	0.343																																					p.V394V													.	.			0			c.C1182T												160	146	150					3																	167034805		1873	4095	5968	SO:0001819	synonymous_variant	79740	exon14			CAGTTCGACTATC	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.1182C>T	3.37:g.167034805G>A			96	0	0		142	0.15	22	NM_024687	0		0	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																					0.343	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000257657.3		NM_024687		A	167034805	G	A	167034805	2	1	56	1	0	0	0	0	0	0	0	1	17540	1045	37	1		1	ZBBX	3	167034805	Silent	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10	31163617	167034805	30987625	9	3993											
SPATA18	132671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	52943177	52943177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcgacaaggctgagaccGttcagcggatcatctacatc	11	8	10	12	3	3	1	2	1	1	1	5	4	3	2	1	2	2	3	1	2	2	2	rs193921037	byFrequency	TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr4:52943177G>A	ENST00000295213.4	+	7	1365	c.991G>A	c.(991-993)Gtt>Att	p.V331I	SPATA18_ENST00000419395.2_Missense_Mutation_p.V299I	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	331					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)			GGCTGAGACCGTTCAGCGGAT	0.622																																					p.V331I													SPATA18_ENST00000295213,NS,adenoma,0,2	SPATA18_ENST00000295213	0	2	0			c.G991A												30	23	25					4																	52943177		2203	4300	6503	SO:0001583	missense	132671	exon7			GAGACCGTTCAGC	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.991G>A	4.37:g.52943177G>A	ENSP00000295213:p.Val331Ile		174	0	0		215	0.12	26	NM_145263	1	1	1	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768603	0.69878	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.57107	0.42;1.55	3.99	3.99	0.46301	.	0.061082	0.64402	D	0.000004	T	0.66713	0.2817	L	0.59436	1.845	0.52099	D	0.999948	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.79108	0.986;0.992;0.991	T	0.66056	-0.6018	10	0.37606	T	0.19	-17.3931	14.3725	0.66849	0.0:0.0:1.0:0.0	.	299;331;331	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	I	331;299	ENSP00000295213:V331I;ENSP00000415309:V299I	ENSP00000295213:V331I	V	+	1	0	SPATA18	52637934	1.000000	0.71417	0.940000	0.37924	0.940000	0.58332	8.204000	0.89741	2.137000	0.66172	0.462000	0.41574	GTT			0.622	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250597.2		NM_145263		A	52943177	G	A	52943177	3	1	56	1	0	0	0	0	1	0	0	0	15026	1145	40	1	1017	1	SPATA18	4	52943177	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		52943177	138211099	10	3994											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69343244	69343244	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctttctagccctgttcccTacacaaatgcagtacataga	12	11	6	12	0	1	1	0	0	1	1	2	1	2	1	2	0	5	4	2	0	5	6			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr4:69343244T>C	ENST00000305363.4	+	8	929	c.865T>C	c.(865-867)Tac>Cac	p.Y289H		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	289	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCCTGTTCCCTACACAAATGC	0.413																																					p.Y289H													.	TMPRSS11E	40		0			c.T865C												272	268	269					4																	69343244		2203	4300	6503	SO:0001583	missense	28983	exon8			GTTCCCTACACAA	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.865T>C	4.37:g.69343244T>C	ENSP00000307519:p.Tyr289His		421	0	0		369	0.01	5	NM_014058	0		0	A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930622	0.73327	.	.	ENSG00000087128	ENST00000305363	T	0.60299	0.2	5.42	4.19	0.49359	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.150995	0.30949	N	0.008558	T	0.70971	0.3285	M	0.82056	2.57	0.24896	N	0.992131	D	0.57899	0.981	P	0.59761	0.863	T	0.64850	-0.6310	10	0.72032	D	0.01	.	10.0465	0.42190	0.1499:0.0:0.0:0.8501	.	289	Q9UL52	TM11E_HUMAN	H	289	ENSP00000307519:Y289H	ENSP00000307519:Y289H	Y	+	1	0	TMPRSS11E	69025839	0.997000	0.39634	0.999000	0.59377	0.970000	0.65996	2.940000	0.49003	2.052000	0.61016	0.477000	0.44152	TAC			0.413	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360584.1		NM_014058		C	69343244	T	C	69343244	3	2	56	1	0	0	0	0	1	0	0	0	16265	1522	53	4	895	4	TMPRSS11E	4	69343244	Missense_Mutation	SNP	T	TCGA-2G-AAKD-01A-31D-A42Y-10	16400067	69343244	121811032	11	3995											
NEIL3	55247	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	178272589	178272589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctagcagggtggatcatGttatggactccgtggctcgg	7	11	14	9	2	2	0	1	0	1	0	4	2	3	2	1	5	1	3	1	5	2	2			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr4:178272589G>A	ENST00000264596.3	+	7	1043	c.925G>A	c.(925-927)Gtt>Att	p.V309I	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	309					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)		GGTGGATCATGTTATGGACTC	0.403								Base excision repair (BER), DNA glycosylases																													p.V309I													.	NEIL3	89		0			c.G925A												157	146	150					4																	178272589		2203	4300	6503	SO:0001583	missense	55247	exon7			GATCATGTTATGG	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.925G>A	4.37:g.178272589G>A	ENSP00000264596:p.Val309Ile		72	0.0138888889	1		67	0.61	41	NM_018248	4	0.75	3	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	6.965	0.547937	0.13312	.	.	ENSG00000109674	ENST00000264596	T	0.03889	3.77	5.23	-1.02	0.10135	.	0.829839	0.10785	N	0.634440	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.48603	-0.9021	10	0.15066	T	0.55	-0.4081	2.1422	0.03777	0.1167:0.142:0.3297:0.4116	.	309	Q8TAT5	NEIL3_HUMAN	I	309	ENSP00000264596:V309I	ENSP00000264596:V309I	V	+	1	0	NEIL3	178509583	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.072000	0.03434	0.027000	0.15297	-0.165000	0.13383	GTT			0.403	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361914.1		NM_018248		A	178272589	G	A	178272589	3	1	56	1	0	0	0	0	1	0	0	0	10337	1377	48	3	951	3	NEIL3	4	178272589	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10	108929345	178272589	12881687	12	3996											
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr4	187557879	187557879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attggggccctcatccttgtCggtggctatgacgtgataga	7	12	13	9	2	1	3	1	2	0	1	3	3	2	3	2	4	0	1	2	4	2	4			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr4:187557879C>T	ENST00000441802.2	-	5	4041	c.3832G>A	c.(3832-3834)Gac>Aac	p.D1278N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1278	Cadherin 11. {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						TCATCCTTGTCGGTGGCTATG	0.498										HNSCC(5;0.00058)																											p.D1278N	Colon(197;1040 2055 4143 4984 49344)												.	.			0			c.G3832A												215	217	216					4																	187557879		1888	4114	6002	SO:0001583	missense	2195	exon5			CCTTGTCGGTGGC	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.3832G>A	4.37:g.187557879C>T	ENSP00000406229:p.Asp1278Asn		115	0	0		164	0.19	31	NM_005245	0		0		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121381	0.77436	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.74526	-0.85	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95905	0.8918	10	0.87932	D	0	.	18.4667	0.90758	0.0:1.0:0.0:0.0	.	1278	Q14517	FAT1_HUMAN	N	1278	ENSP00000406229:D1278N	ENSP00000260147:D1278N	D	-	1	0	FAT1	187794873	1.000000	0.71417	0.956000	0.39512	0.090000	0.18270	7.651000	0.83577	2.599000	0.87857	0.561000	0.74099	GAC			0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360209.3		NM_005245		T	187557879	C	T	187557879	3	4	56	1	0	0	0	0	1	0	0	0	5702	884	31	1	10026	1	FAT1	4	187557879	Missense_Mutation	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10	9285290	187557879	3596397	13	3997											
PRLR	5618	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	35065642	35065642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctccctctgctgggttGcctttccctcttctctagac	3	15	6	17	0	3	1	0	0	3	1	6	1	5	1	4	1	3	2	4	1	2	5			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr5:35065642G>A	ENST00000382002.5	-	10	1844	c.1418C>T	c.(1417-1419)gCa>gTa	p.A473V	PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A372V|PRLR_ENST00000342362.5_Missense_Mutation_p.A372V|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	473					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CTGCTGGGTTGCCTTTCCCTC	0.537																																					p.A473V													PRLR,NS,carcinoma,-1,1	PRLR	-1	1	0			c.C1418T												87	96	93					5																	35065642		2203	4300	6503	SO:0001583	missense	5618	exon10			TGGGTTGCCTTTC		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1418C>T	5.37:g.35065642G>A	ENSP00000371432:p.Ala473Val		157	0	0		136	0.35	48	NM_000949	2	0	0	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.144787	0.01714	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.87809	-2.3;-1.38;-2.3	5.8	-0.817	0.10836	.	0.829110	0.11512	N	0.556610	T	0.77246	0.4102	L	0.55834	1.745	0.09310	N	1	B;B	0.22003	0.021;0.063	B;B	0.18871	0.013;0.023	T	0.57359	-0.7825	10	0.13470	T	0.59	-0.6824	1.0468	0.01571	0.2163:0.1851:0.3806:0.218	.	473;372	P16471;P16471-2	PRLR_HUMAN;.	V	372;473;372	ENSP00000339213:A372V;ENSP00000371432:A473V;ENSP00000422556:A372V	ENSP00000339213:A372V	A	-	2	0	PRLR	35101399	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.272000	0.08560	-0.145000	0.11294	-0.140000	0.14226	GCA			0.537	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207575.2				A	35065642	G	A	35065642	3	1	56	1	0	0	0	0	1	0	0	0	12551	1319	46	2	454	2	PRLR	5	35065642	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		35065642	145849618	14	3998											
PAIP1	10605	hgsc.bcm.edu	37	chr5	43539098	43539098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcgagtaacttcatccccTtttgcagcttgatctttaac	8	17	5	11	1	2	1	1	1	1	0	4	2	3	1	2	0	4	3	2	0	2	8			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr5:43539098T>C	ENST00000306846.3	-	5	1006	c.774A>G	c.(772-774)aaA>aaG	p.K258K	PAIP1_ENST00000436644.2_Silent_p.K179K|PAIP1_ENST00000338972.4_Silent_p.K146K|PAIP1_ENST00000514514.1_Silent_p.K179K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	258	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CTTCATCCCCTTTTGCAGCTT	0.323																																					p.K258K													.	.			0			c.A774G												150	143	145					5																	43539098		2203	4300	6503	SO:0001819	synonymous_variant	10605	exon5			ATCCCCTTTTGCA	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.774A>G	5.37:g.43539098T>C			54	0	0		61	0.07	4	NM_006451	45	0	0	A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	37	CCDS3947.1																																																																																					0.323	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000214024.1		NM_006451		C	43539098	T	C	43539098	2	2	56	1	0	0	0	0	0	0	0	1	11413	1606	56	4		4	PAIP1	5	43539098	Silent	SNP	T	TCGA-2G-AAKD-01A-31D-A42Y-10	8473456	43539098	137376162	15	3999											
MYO6	4646	broad.mit.edu	37	chr6	76591494	76591494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactggctcacatgcagtcGctggaagaaagttcagtggt	10	10	12	9	1	3	1	3	0	0	1	4	2	3	2	0	3	1	4	0	3	2	1			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr6:76591494G>T	ENST00000369977.3	+	23	2514	c.2375G>T	c.(2374-2376)cGc>cTc	p.R792L	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369975.1_Missense_Mutation_p.R792L|MYO6_ENST00000369981.3_Missense_Mutation_p.R792L|MYO6_ENST00000369985.4_Missense_Mutation_p.R792L	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	792	Required for binding calmodulin. {ECO:0000250}.				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)		ACATGCAGTCGCTGGAAGAAA	0.418																																					p.R792L													MYO6,NS,carcinoma,+1,1	MYO6	124	1	0			c.G2375T												146	140	142					6																	76591494		2203	4300	6503	SO:0001583	missense	4646	exon23			GCAGTCGCTGGAA	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.2375G>T	6.37:g.76591494G>T	ENSP00000358994:p.Arg792Leu		100	0.01	1		91	0.03	3	NM_004999	5	0	0	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172508	0.94807	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	M	0.88377	2.95	0.80722	D	1	P;D	0.89917	0.757;1.0	P;D	0.91635	0.508;0.999	D	0.87696	0.2557	10	0.72032	D	0.01	.	19.4895	0.95044	0.0:0.0:1.0:0.0	.	792;792	Q9UM54-2;Q9UM54-1	.;.	L	792	ENSP00000358998:R792L;ENSP00000359002:R792L;ENSP00000358994:R792L;ENSP00000358992:R792L	ENSP00000358992:R792L	R	+	2	0	MYO6	76648214	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.447000	0.97595	2.596000	0.87737	0.655000	0.94253	CGC			0.418	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041279.2		NM_004999		T	76591494	G	T	76591494	3	4	56	1	0	0	0	0	1	0	0	0	10097	1087	38	1	2461	1	MYO6	6	76591494	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		76591494	94523573	16	4000											
MOXD1	26002	broad.mit.edu;bcgsc.ca	37	chr6	132643950	132643950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgatgcctctgccagccagGtgagcatggagaagaacagc	11	6	13	11	0	1	4	0	2	1	2	1	5	1	4	3	2	6	1	3	2	2	0			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr6:132643950G>T	ENST00000367963.3	-	8	1291	c.1173C>A	c.(1171-1173)caC>caA	p.H391Q	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.H323Q	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	391						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|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)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGCCAGCCAGGTGAGCATGGA	0.463																																					p.H391Q													.	MOXD1	136		0			c.C1173A												89	81	84					6																	132643950		2203	4300	6503	SO:0001583	missense	26002	exon8			AGCCAGGTGAGCA	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1173C>A	6.37:g.132643950G>T	ENSP00000356940:p.His391Gln		122	0	0		142	0.05	7	NM_015529	7	0	0	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168605	0.78339	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	D;D	0.91843	-2.92;-2.92	5.78	4.73	0.59995	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96562	0.8878	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96894	0.9655	10	0.87932	D	0	-25.4137	15.7174	0.77677	0.0762:0.0:0.9238:0.0	.	391;323	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	Q	391;323	ENSP00000356940:H391Q;ENSP00000336998:H323Q	ENSP00000336998:H323Q	H	-	3	2	MOXD1	132685643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.508000	0.35769	2.733000	0.93635	0.655000	0.94253	CAC			0.463	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000125837.1		NM_015529		T	132643950	G	T	132643950	3	4	56	1	0	0	0	0	1	0	0	0	9736	1252	44	3	688	3	MOXD1	6	132643950	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10	56052456	132643950	38471117	17	4001											
RAPGEF5	9771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	22348122	22348122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgaaagtatagatgctgGtccactgtttgaaacaaaaa	15	12	8	6	0	1	3	0	2	1	1	2	3	2	3	1	1	2	3	1	1	6	4			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr7:22348122G>A	ENST00000405243.1	-	5	599	c.516C>T	c.(514-516)gaC>gaT	p.D172D	RAPGEF5_ENST00000344041.6_Silent_p.D19D			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						ATAGATGCTGGTCCACTGTTT	0.299																																					p.D19D													.	.			0			c.C57T												45	40	41					7																	22348122		1821	4057	5878	SO:0001819	synonymous_variant	9771	exon5			ATGCTGGTCCACT	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.516C>T	7.37:g.22348122G>A			55	0	0		90	0.1	9	NM_012294	0		0	A4D140|Q8IXU5	Silent	SNP	ENST00000405243.1	37																																																																																						0.299	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000326591.1		NM_012294		A	22348122	G	A	22348122	2	1	56	1	0	0	0	0	0	0	0	1	13070	1252	44	3		3	RAPGEF5	7	22348122	Silent	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		22348122	136790541	18	4002											
FLNC	2318	broad.mit.edu	37	chr7	128478446	128478446	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacctgtgggcaatgtGgccaacaaacccacctactt	11	8	9	13	0	0	0	0	0	0	0	0	1	0	1	4	3	4	1	4	3	5	2			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr7:128478446G>T	ENST00000325888.8	+	7	1434	c.1173G>T	c.(1171-1173)gtG>gtT	p.V391V	FLNC_ENST00000346177.6_Silent_p.V391V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	391					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						TGGGCAATGTGGCCAACAAAC	0.617																																					p.V391V													.	FLNC	339		0			c.G1173T												110	117	115					7																	128478446		2077	4197	6274	SO:0001819	synonymous_variant	2318	exon7			CAATGTGGCCAAC	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.1173G>T	7.37:g.128478446G>T			82	0	0		106	0.04	4	NM_001127487	11	0	0	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																					0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000059948.3				T	128478446	G	T	128478446	2	4	56	1	0	0	0	0	0	0	0	1	5948	1335	47	3		3	FLNC	7	128478446	Silent	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10	106130324	128478446	30660217	19	4003											
CALB1	793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr8	91078131	91078131	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatcagtcttaccattaGgtctgtatactcggctaatt	11	14	7	9	1	3	1	1	0	2	1	4	1	3	1	1	2	2	2	1	2	6	6			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr8:91078131G>A	ENST00000265431.3	-	6	626	c.445C>T	c.(445-447)Cta>Tta	p.L149L	CALB1_ENST00000518457.1_Silent_p.L92L	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	149	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTTACCATTAGGTCTGTATAC	0.353																																					p.L149L	Melanoma(46;573 1182 27367 39727 48386)												.	.			0			c.C445T												121	108	113					8																	91078131		2203	4300	6503	SO:0001819	synonymous_variant	793	exon6			CCATTAGGTCTGT		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"EF-hand domain containing"	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.445C>T	8.37:g.91078131G>A			114	0	0		120	0.13	16	NM_004929	74	0.24	18	B2R696|B7Z9J4	Silent	SNP	ENST00000265431.3	37	CCDS6251.1																																																																																					0.353	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259338.2		NM_004929		A	91078131	G	A	91078131	2	1	56	1	0	0	0	0	0	0	0	1	2575	991	35	3		3	CALB1	8	91078131	Silent	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		91078131	55285891	20	4004											
GRHL2	79977	broad.mit.edu	37	chr8	102585952	102585952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgtcagaagcagggggAgggccccatgacctacctca	9	6	12	14	1	3	2	2	1	1	1	4	3	3	3	5	3	2	1	5	3	2	1			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr8:102585952A>G	ENST00000251808.3	+	6	1129	c.791A>G	c.(790-792)gAg>gGg	p.E264G	GRHL2_ENST00000395927.1_Missense_Mutation_p.E248G	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	264					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AAGCAGGGGGAGGGCCCCATG	0.517																																					p.E264G													.	GRHL2	68		0			c.A791G												75	63	67					8																	102585952		2203	4300	6503	SO:0001583	missense	79977	exon6			AGGGGGAGGGCCC	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.791A>G	8.37:g.102585952A>G	ENSP00000251808:p.Glu264Gly		124	0.0080645161	1		178	0.02	4	NM_024915	2	0	0	A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.921271	0.92249	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.28895	1.59;1.59	5.8	5.8	0.92144	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.62295	0.2416	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.991	T	0.69480	-0.5134	10	0.87932	D	0	-38.965	16.1475	0.81580	1.0:0.0:0.0:0.0	.	264;264	B4DL28;Q6ISB3	.;GRHL2_HUMAN	G	264;248;264	ENSP00000251808:E264G;ENSP00000379260:E248G	ENSP00000251808:E264G	E	+	2	0	GRHL2	102655128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.213000	0.71641	0.528000	0.53228	GAG			0.517	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313882.1		NM_024915		G	102585952	A	G	102585952	3	3	56	1	0	0	0	0	1	0	0	0	6779	304	11	4	813	4	GRHL2	8	102585952	Missense_Mutation	SNP	A	TCGA-2G-AAKD-01A-31D-A42Y-10	11507821	102585952	43778070	21	4005											
DPCD	25911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr10	103361002	103361002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatgagtttccagtggCggattcgaaacctcccctat	10	10	9	12	2	0	2	0	1	0	1	3	4	2	3	5	2	1	1	5	2	3	3			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr10:103361002C>T	ENST00000370151.4	+	4	362	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	DPCD_ENST00000370147.1_Missense_Mutation_p.R105W|DPCD_ENST00000370148.2_Missense_Mutation_p.R105W|MIR3158-1_ENST00000583596.1_RNA	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	105					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						TTTCCAGTGGCGGATTCGAAA	0.517																																					p.R105W													.	.			0			c.C313T												161	125	137					10																	103361002		2203	4300	6503	SO:0001583	missense	25911	exon4			CAGTGGCGGATTC		CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.313C>T	10.37:g.103361002C>T	ENSP00000359170:p.Arg105Trp		69	0	0		80	0.23	18	NM_015448	30	0.37	11	A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Missense_Mutation	SNP	ENST00000370151.4	37	CCDS7514.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039223	0.75617	.	.	ENSG00000166171	ENST00000370151;ENST00000370147;ENST00000370148;ENST00000370149;ENST00000434727	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.95	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.75042	0.3796	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77225	-0.2666	10	0.87932	D	0	-13.8538	8.7911	0.34852	0.2693:0.663:0.0:0.0677	.	105	Q9BVM2	DPCD_HUMAN	W	105;105;105;70;69	ENSP00000359170:R105W;ENSP00000359166:R105W;ENSP00000359167:R105W;ENSP00000403505:R69W	ENSP00000359166:R105W	R	+	1	2	DPCD	103350992	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.506000	0.53364	0.843000	0.35070	0.650000	0.86243	CGG			0.517	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049958.2				T	103361002	C	T	103361002	3	4	56	1	0	0	0	0	1	0	0	0	4716	759	27	1	327	1	DPCD	10	103361002	Missense_Mutation	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10		103361002	32173745	22	4006											
MUC2	4583	broad.mit.edu	37	chr11	1093292	1093292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgacacccatcaccaccaCcactacggtgaccccaaccc	12	4	4	21	2	1	1	1	1	0	0	2	2	1	1	7	1	2	0	7	1	2	1			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr11:1093292C>T	ENST00000441003.2	+	30	5138	c.5111C>T	c.(5110-5112)aCc>aTc	p.T1704I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	atcaccaccaccactacggtg	0.637																																					p.T1704I													.	MUC2	614		0			c.C5111T												107	156	138					11																	1093292		1878	3453	5331	SO:0001583	missense	4583	exon30			CCACCACCACTAC	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.5111C>T	11.37:g.1093292C>T	ENSP00000415183:p.Thr1704Ile		23	0	0		18	0.17	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.150	-0.394632	0.04899	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11063	2.81;2.84	1.6	-2.66	0.06077	.	2.760050	0.04005	U	0.297091	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36286	-0.9754	9	0.36615	T	0.2	.	2.477	0.04578	0.4942:0.3128:0.0:0.1931	.	1704	E7EUV1	.	I	1704;1671	ENSP00000415183:T1704I;ENSP00000351956:T1671I	ENSP00000351956:T1671I	T	+	2	0	MUC2	1083292	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.330000	0.19715	-0.514000	0.06488	0.184000	0.17185	ACC			0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1093292	C	T	1093292	3	4	56	1	0	0	0	0	1	0	0	0	9991	507	18	3	5229	3	MUC2	11	1093292	Missense_Mutation	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10		1093292	133913224	23	4007											
SLC43A3	29015	bcgsc.ca	37	chr11	57193118	57193118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggtgaagatgagtgaGaacctctcatcctgggcttt	9	10	12	10	0	1	4	1	3	1	2	3	5	2	4	3	2	1	1	3	2	2	1			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr11:57193118G>T	ENST00000395123.2	-	4	514	c.210C>A	c.(208-210)ttC>ttA	p.F70L	SLC43A3_ENST00000533524.1_Missense_Mutation_p.F83L|SLC43A3_ENST00000529554.1_Missense_Mutation_p.F70L|SLC43A3_ENST00000352187.1_Missense_Mutation_p.F70L|SLC43A3_ENST00000395124.1_Missense_Mutation_p.F70L|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	70					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AGATGAGTGAGAACCTCTCAT	0.542																																					p.F70L													.	SLC43A3	54		0			c.C210A												104	93	97					11																	57193118		2201	4296	6497	SO:0001583	missense	29015	exon4			GAGTGAGAACCTC	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.210C>A	11.37:g.57193118G>T	ENSP00000378555:p.Phe70Leu		70	0	0		84	0.06	5	NM_014096	5	0	0	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	2.613	-0.290285	0.05568	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005;ENST00000529113;ENST00000525474;ENST00000529112;ENST00000528187;ENST00000529494;ENST00000533245;ENST00000533235;ENST00000524863;ENST00000532795;ENST00000533051	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.4	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.17631	0.505	0.49130	D	0.999753	P;B;B	0.38420	0.63;0.091;0.047	B;B;B	0.40285	0.325;0.149;0.066	T	0.12192	-1.0557	10	0.02654	T	1	-32.7492	9.246	0.37527	0.1673:0.0:0.8327:0.0	.	70;83;70	B4DV87;E7EQD2;Q8NBI5	.;.;S43A3_HUMAN	L	70;70;70;70;83;70;17;70;70;83;70;70;70;70;70;70	ENSP00000378555:F70L;ENSP00000378556:F70L;ENSP00000337561:F70L;ENSP00000436254:F70L;ENSP00000434515:F83L;ENSP00000435893:F70L;ENSP00000434293:F17L;ENSP00000436055:F70L;ENSP00000434913:F70L;ENSP00000435273:F83L;ENSP00000433974:F70L;ENSP00000431762:F70L;ENSP00000435156:F70L;ENSP00000434569:F70L;ENSP00000435109:F70L;ENSP00000435490:F70L	ENSP00000337561:F70L	F	-	3	2	SLC43A3	56949694	1.000000	0.71417	0.954000	0.39281	0.221000	0.24807	1.864000	0.39469	1.272000	0.44329	0.561000	0.74099	TTC			0.542	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000393057.1		NM_017611		T	57193118	G	T	57193118	3	4	56	1	0	0	0	0	1	0	0	0	14657	933	33	3	1309	3	SLC43A3	11	57193118	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10	56099826	57193118	77813398	24	4008											
IQSEC3	440073	hgsc.bcm.edu	37	chr12	274692	274692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagttccagctctttgaGaacgagtgtaagtctttgac	10	13	10	8	1	2	2	0	2	2	1	3	4	3	2	1	0	3	4	1	0	2	4			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr12:274692G>C	ENST00000538872.1	+	10	2920	c.2802G>C	c.(2800-2802)gaG>gaC	p.E934D	RP11-598F7.5_ENST00000540136.1_RNA|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.E934D|IQSEC3_ENST00000382841.2_Missense_Mutation_p.E631D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	934	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)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGCTCTTTGAGAACGAGTGTA	0.498																																					p.E934D													.	.			0			c.G2802C												143	133	137					12																	274692		2203	4300	6503	SO:0001583	missense	440073	exon10			CTTTGAGAACGAG	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2802G>C	12.37:g.274692G>C	ENSP00000437554:p.Glu934Asp		87	0	0		253	0.04	11	NM_001170738	4	0	0	A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594755	0.66219	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.52057	0.68;0.68;0.68	4.87	4.87	0.63330	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.69185	2.1	0.80722	D	1	B;B	0.16603	0.002;0.018	B;B	0.17098	0.012;0.017	T	0.49312	-0.8953	10	0.45353	T	0.12	.	18.5623	0.91105	0.0:0.0:1.0:0.0	.	934;631	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	D	934;934;631	ENSP00000437554:E934D;ENSP00000315662:E934D;ENSP00000372292:E631D	ENSP00000315662:E934D	E	+	3	2	IQSEC3	144953	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.377000	0.66184	2.684000	0.91462	0.650000	0.86243	GAG			0.498	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397382.3		XM_495902		C	274692	G	C	274692	3	2	56	1	0	0	0	0	1	0	0	0	7834	933	33	5	2840	5	IQSEC3	12	274692	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		274692	133577203	25	4009											
ITGA7	3679	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	56092570	56092570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccccagacagcataacctCgggcaccaggcgactggcgc	9	4	11	17	3	0	1	0	0	0	1	2	2	1	1	4	3	2	2	4	3	1	1			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr12:56092570C>T	ENST00000555728.1	-	7	1082	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	ITGA7_ENST00000394229.2_Missense_Mutation_p.E308K|ITGA7_ENST00000257880.7_Missense_Mutation_p.E352K|ITGA7_ENST00000452168.2_Missense_Mutation_p.E215K|ITGA7_ENST00000553804.1_Missense_Mutation_p.E312K|ITGA7_ENST00000394230.2_Missense_Mutation_p.E312K|ITGA7_ENST00000347027.6_Missense_Mutation_p.E308K|ITGA7_ENST00000257879.6_Missense_Mutation_p.E308K			Q13683	ITA7_HUMAN	integrin, alpha 7	352					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						AGCATAACCTCGGGCACCAGG	0.642																																					p.E312K													ITGA7_ENST00000553804,colon,carcinoma,0,2	ITGA7_ENST00000553804	0	2	0			c.G934A												65	53	57					12																	56092570		2203	4300	6503	SO:0001583	missense	3679	exon6			TAACCTCGGGCAC		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.1054G>A	12.37:g.56092570C>T	ENSP00000452387:p.Glu352Lys		92	0	0		100	0.25	25	NM_001144996	9	0.22	2	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	C	14.16	2.453407	0.43531	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728;ENST00000557257	T;T;T;T;T;T;T;T;T	0.68903	-0.32;-0.34;-0.28;0.13;-0.35;-0.32;-0.34;-0.36;1.38	4.46	4.46	0.54185	.	0.304228	0.30602	N	0.009277	T	0.53546	0.1803	N	0.21448	0.665	0.43657	D	0.996072	B;B;P;B	0.34757	0.043;0.025;0.467;0.049	B;B;B;B	0.36808	0.052;0.014;0.233;0.027	T	0.52779	-0.8530	10	0.27082	T	0.32	.	14.9993	0.71459	0.0:1.0:0.0:0.0	.	215;352;312;371	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	K	312;308;308;215;352;312;308;352;352;150	ENSP00000452120:E312K;ENSP00000257879:E308K;ENSP00000343009:E308K;ENSP00000393844:E215K;ENSP00000257880:E352K;ENSP00000377777:E312K;ENSP00000377776:E308K;ENSP00000452387:E352K;ENSP00000450578:E150K	ENSP00000257879:E308K	E	-	1	0	ITGA7	54378837	1.000000	0.71417	0.474000	0.27266	0.507000	0.33981	3.974000	0.56852	2.489000	0.83994	0.491000	0.48974	GAG			0.642	ITGA7-014	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000410138.1		NM_002206		T	56092570	C	T	56092570	3	4	56	1	0	0	0	0	1	0	0	0	7896	893	31	1	2571	1	ITGA7	12	56092570	Missense_Mutation	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10	55817878	56092570	77759325	26	4010											
PABPC3	5042	bcgsc.ca	37	chr13	25671122	25671122	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatggaaaacaaatttaCgttggtcgagctcagaaaaa	17	9	8	7	2	2	1	2	0	0	1	3	3	2	2	0	2	3	2	0	2	7	3	rs79072440		TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr13:25671122C>T	ENST00000281589.3	+	1	823	c.786C>T	c.(784-786)taC>taT	p.Y262Y		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	262	RRM 3. {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)		AACAAATTTACGTTGGTCGAG	0.408																																					p.Y262Y													.	PABPC3	129		0			c.C786T																																									SO:0001819	synonymous_variant	5042	exon1			AATTTACGTTGGT	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.786C>T	13.37:g.25671122C>T			104	0.0096153846	1		103	0.08	8	NM_030979	3	1	3	Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																					0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044220.2		NM_030979		T	25671122	C	T	25671122	2	4	56	1	0	0	0	0	0	0	0	1	11382	547	19	1		1	PABPC3	13	25671122	Silent	SNP	C	TCGA-2G-AAKD-01A-31D-A42Y-10		25671122	89498756	27	4011											
POTEG	404785	broad.mit.edu	37	chr14	19553528	19553528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccctggtgcagggggAgcggcaagagcaacgtgggc	7	5	18	11	2	0	1	0	0	0	1	1	2	1	2	2	5	4	4	2	5	2	1			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr14:19553528A>G	ENST00000409832.3	+	1	164	c.112A>G	c.(112-114)Agc>Ggc	p.S38G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	38										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGCAGGGGGAGCGGCAAGAG	0.597																																					p.S38G													.	POTEG	118		0			c.A112G												18	29	26					14																	19553528		1570	3325	4895	SO:0001583	missense	404785	exon1			AGGGGGAGCGGCA		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.112A>G	14.37:g.19553528A>G	ENSP00000386971:p.Ser38Gly		988	0.0020242915	2		1024	0.01	11	NM_001005356	0		0	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	9.324	1.058695	0.19987	.	.	ENSG00000222036	ENST00000409832	T	0.37235	1.21	.	.	.	.	.	.	.	.	T	0.25044	0.0608	L	0.29908	0.895	0.09310	N	1	B	0.32031	0.352	B	0.34242	0.178	T	0.25916	-1.0118	7	0.72032	D	0.01	.	.	.	.	.	38	Q6S5H5	POTEG_HUMAN	G	38	ENSP00000386971:S38G	ENSP00000386971:S38G	S	+	1	0	POTEG	18623528	0.007000	0.16637	0.016000	0.15963	0.017000	0.09413	0.222000	0.17699	0.141000	0.18875	0.139000	0.15985	AGC			0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408579.1		NM_001005356		G	19553528	A	G	19553528	3	3	56	1	0	0	0	0	1	0	0	0	12283	304	11	4	114	4	POTEG	14	19553528	Missense_Mutation	SNP	A	TCGA-2G-AAKD-01A-31D-A42Y-10		19553528	87796012	28	4012											
KIAA1409	57578	broad.mit.edu	37	chr14	94103583	94103583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatacagcctgggaaacGccagtgtaacgtgccaacgt	13	6	11	11	3	0	1	0	0	0	1	0	2	0	2	3	1	6	1	3	1	4	2			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr14:94103583G>T	ENST00000393151.2	+	33	5855	c.5855G>T	c.(5854-5856)cGc>cTc	p.R1952L	UNC79_ENST00000256339.4_Missense_Mutation_p.R1775L|UNC79_ENST00000553484.1_Missense_Mutation_p.R1974L|UNC79_ENST00000555664.1_Missense_Mutation_p.R1913L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1952					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						cctgggaaacgccagtgtaac	0.453																																					p.R1775L													.	UNC79	366		0			c.G5324T												154	116	129					14																	94103583		2203	4300	6503	SO:0001583	missense	57578	exon33			GGAAACGCCAGTG	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.5855G>T	14.37:g.94103583G>T	ENSP00000376858:p.Arg1952Leu		80	0	0		77	0.05	4	NM_020818	0		0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	15.38	2.817600	0.50633	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.21932	2.26;1.98;2.26;2.26	5.34	4.44	0.53790	.	0.406174	0.28036	N	0.016847	T	0.11495	0.0280	N	0.08118	0	0.31543	N	0.659719	B	0.13594	0.008	B	0.16289	0.015	T	0.06356	-1.0831	10	0.35671	T	0.21	-1.554	12.2277	0.54470	0.0:0.1706:0.8293:0.0	.	1974	C9JQL1	.	L	1775;1913;1974;1952;1974	ENSP00000256339:R1775L;ENSP00000450868:R1913L;ENSP00000451360:R1974L;ENSP00000376858:R1952L	ENSP00000256339:R1775L	R	+	2	0	KIAA1409	93173336	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.832000	0.48152	1.600000	0.50102	0.650000	0.86243	CGC			0.453	UNC79-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000412766.1		XM_028395		T	94103583	G	T	94103583	3	4	56	1	0	0	0	0	1	0	0	0	8245	1087	38	1	5442	1	KIAA1409	14	94103583	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10	74550055	94103583	13245957	29	4013											
MAGEL2	54551	bcgsc.ca	37	chr15	23889164	23889164	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggagggggcctgctggtGgggccgtgggcactgtcacc	3	6	21	11	2	1	0	1	0	0	0	1	1	1	1	3	8	1	2	3	8	0	0			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr15:23889164G>T	ENST00000532292.1	-	1	2011	c.1917C>A	c.(1915-1917)ccC>ccA	p.P639P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	522					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCCTGCTGGTGGGGCCGTGGG	0.592																																					p.P1242P													.	MAGEL2	108		0			c.C3726A												31	35	34					15																	23889164		2039	4186	6225	SO:0001819	synonymous_variant	54551	exon1			GCTGGTGGGGCCG	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1917C>A	15.37:g.23889164G>T			77	0	0		55	0.09	5	NM_019066	13	0	0		Silent	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	G	2.154	-0.393786	0.04899	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.28	2.39	0.29439	.	.	.	.	.	T	0.60077	0.2241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59621	-0.7420	5	0.66056	D	0.02	.	5.5198	0.16925	0.1007:0.0:0.7046:0.1947	.	.	.	.	Q	671	.	ENSP00000433433:P671Q	P	-	2	0	MAGEL2	21440257	0.978000	0.34361	0.988000	0.46212	0.036000	0.12997	0.938000	0.28965	0.744000	0.32741	-0.244000	0.11960	CCA			0.592	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000395182.2		NM_019066		T	23889164	G	T	23889164	2	4	56	1	0	0	0	0	0	0	0	1	9205	1335	47	3		3	MAGEL2	15	23889164	Silent	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		23889164	78642228	30	4014											
FAM100A	124402	broad.mit.edu	37	chr16	4659850	4659850	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggaagtgtggcgggggTgacgtggctgtcgcggccat	4	8	22	7	4	0	1	0	1	0	0	1	2	0	2	1	7	0	1	1	7	1	0			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr16:4659850T>G	ENST00000283474.7	-	3	446	c.318A>C	c.(316-318)tcA>tcC	p.S106S	UBALD1_ENST00000590891.1_Silent_p.S141S|UBALD1_ENST00000587615.1_Silent_p.S81S|UBALD1_ENST00000591897.1_Silent_p.S46S|UBALD1_ENST00000587649.1_3'UTR|UBALD1_ENST00000590965.1_3'UTR|UBALD1_ENST00000591401.1_Silent_p.S85S	NM_145253.2	NP_660296.1	Q8TB05	UBAD1_HUMAN	UBA-like domain containing 1	106																	GTGGCGGGGGTGACGTGGCTG	0.716																																					p.S106S													.	.			0			c.A318C												6	7	7					16																	4659850		2008	3990	5998	SO:0001819	synonymous_variant	124402	exon3			CGGGGGTGACGTG	BC025327	CCDS10518.1	16p13.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000153443	ENSG00000153443			29576	protein-coding gene	gene with protein product			"family with sequence similarity 100, member A"	FAM100A			Standard	NM_145253		Approved		uc002cwx.2	Q8TB05	OTTHUMG00000129472	ENST00000283474.7:c.318A>C	16.37:g.4659850T>G			33	0.3636363636	12		34	0.53	18	NM_145253	27	0.44	12	Q71MF6	Silent	SNP	ENST00000283474.7	37	CCDS10518.1																																																																																					0.716	UBALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251635.2		NM_145253		G	4659850	T	G	4659850	2	3	56	1	0	0	0	0	0	0	0	1	5388	1683	59	4		4	FAM100A	16	4659850	Silent	SNP	T	TCGA-2G-AAKD-01A-31D-A42Y-10		4659850	85694903	31	4015											
PRPF8	10594	hgsc.bcm.edu	37	chr17	1579989	1579989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatattctctatgggcGtcggcagcccagggacctaa	9	9	12	11	2	2	0	1	0	1	0	4	2	2	2	2	4	1	1	2	4	3	4			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr17:1579989G>T	ENST00000572621.1	-	15	2463	c.2198C>A	c.(2197-2199)aCg>aAg	p.T733K	PRPF8_ENST00000304992.6_Missense_Mutation_p.T733K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	733					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)		CTCTATGGGCGTCGGCAGCCC	0.567																																					p.T733K													.	.			0			c.C2198A												135	139	138					17																	1579989		2203	4300	6503	SO:0001583	missense	10594	exon16			ATGGGCGTCGGCA	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.2198C>A	17.37:g.1579989G>T	ENSP00000460348:p.Thr733Lys		72	0	0		57	0.07	4	NM_006445	20	0	0	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788258	0.49997	.	.	ENSG00000174231	ENST00000304992	T	0.79033	-1.23	6.07	6.07	0.98685	PROCN (1);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	L	0.29908	0.895	0.80722	D	1	B	0.31256	0.316	B	0.30179	0.112	T	0.60454	-0.7260	10	0.08599	T	0.76	0.0162	13.7909	0.63140	0.0695:0.0:0.9305:0.0	.	733	Q6P2Q9	PRP8_HUMAN	K	733	ENSP00000304350:T733K	ENSP00000304350:T733K	T	-	2	0	PRPF8	1526739	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.029000	0.88807	2.884000	0.98904	0.655000	0.94253	ACG			0.567	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438412.2				T	1579989	G	T	1579989	3	4	56	1	0	0	0	0	1	0	0	0	12595	1145	40	1	4921	1	PRPF8	17	1579989	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		1579989	79615221	32	4016											
KRT32	3882	hgsc.bcm.edu;bcgsc.ca	37	chr17	39619137	39619137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgatctcgccctccagccGggcccggacgtccagcagca	6	6	12	17	4	1	1	0	1	1	0	4	2	3	2	5	2	3	3	5	2	0	1			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr17:39619137G>A	ENST00000225899.3	-	6	1265	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	388	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCCTCCAGCCGGGCCCGGACG	0.637																																					p.R388W													.	.			0			c.C1162T												76	76	76					17																	39619137		2203	4300	6503	SO:0001583	missense	3882	exon6			CCAGCCGGGCCCG	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1162C>T	17.37:g.39619137G>A	ENSP00000225899:p.Arg388Trp		78	0	0		96	0.05	5	NM_002278	0		0		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759276	0.69763	.	.	ENSG00000108759	ENST00000225899	D	0.90004	-2.6	5.07	4.08	0.47627	Filament (1);	0.000000	0.36409	N	0.002614	D	0.96364	0.8814	H	0.97365	3.99	0.39645	D	0.97037	D	0.89917	1.0	D	0.97110	1.0	D	0.98006	1.0363	10	0.87932	D	0	.	14.0467	0.64708	0.0:0.0:0.8479:0.1521	.	388	Q14532	K1H2_HUMAN	W	388	ENSP00000225899:R388W	ENSP00000225899:R388W	R	-	1	2	KRT32	36872663	0.998000	0.40836	0.993000	0.49108	0.844000	0.47949	3.571000	0.53841	1.203000	0.43233	0.561000	0.74099	CGG			0.637	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257293.1		NM_002278		A	39619137	G	A	39619137	3	1	56	1	0	0	0	0	1	0	0	0	8483	1115	39	1	192	1	KRT32	17	39619137	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10	38039148	39619137	41576073	33	4017											
ACE	1636	bcgsc.ca	37	chr17	61557201	61557201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggagggctggcacaacGctgcgggcatcccgctgaaa	8	5	15	13	3	0	1	0	1	0	0	1	2	1	2	2	4	2	5	2	4	2	0			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr17:61557201G>T	ENST00000290866.4	+	4	607	c.583G>T	c.(583-585)Gct>Tct	p.A195S	ACE_ENST00000428043.1_Missense_Mutation_p.A195S|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.A195S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	195	Peptidase M2 1.				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)	CTGGCACAACGCTGCGGGCAT	0.607																																					p.A195S													ACE,NS,carcinoma,-1,1	ACE	187	1	0			c.G583T												106	76	86					17																	61557201		2203	4300	6503	SO:0001583	missense	1636	exon4			CACAACGCTGCGG	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.583G>T	17.37:g.61557201G>T	ENSP00000290866:p.Ala195Ser		40	0	0		55	0.07	4	NM_000789	6	0	0	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	6.521	0.464316	0.12402	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.35236	1.32;1.32;1.32	3.88	0.697	0.18081	.	0.426470	0.24357	N	0.039222	T	0.24470	0.0593	L	0.35542	1.07	0.09310	N	0.999998	B;B;B	0.30709	0.038;0.005;0.291	B;B;B	0.37731	0.06;0.027;0.257	T	0.12760	-1.0535	10	0.29301	T	0.29	-3.5288	3.7568	0.08588	0.2571:0.0:0.4713:0.2716	.	195;195;195	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	S	195	ENSP00000439591:A195S;ENSP00000290866:A195S;ENSP00000397593:A195S	ENSP00000290866:A195S	A	+	1	0	ACE	58910933	0.056000	0.20664	0.022000	0.16811	0.092000	0.18411	1.224000	0.32539	0.329000	0.23460	-0.258000	0.10820	GCT			0.607	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337675.2				T	61557201	G	T	61557201	3	4	56	1	0	0	0	0	1	0	0	0	136	1087	38	1	597	1	ACE	17	61557201	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10	21938064	61557201	19638009	34	4018											
LAMA3	3909	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	21427447	21427480	+	Frame_Shift_Del	DEL	CCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC	CCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC	-																															gcgtgcagctgtggtcggcgCctttgtgaagagatgacggg																								rs544156623|rs372275318|rs367562646|rs564044139	byFrequency	TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	CCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC	CCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr18:21427447_21427480delCCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC	ENST00000313654.9	+	32	4192_4225	c.3951_3984delCCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC	c.(3949-3984)cgcctttgtgaagagatgacggggcagtgccgctgcfs	p.RLCEEMTGQCRC1317fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.RLCEEMTGQCRC1317fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1317	Domain III B.|Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)					GTGGTCGGCGCCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGCCCTCCCCGCA	0.624																																					p.1317_1328del													.	.			0			c.3950_3983del																																									SO:0001589	frameshift_variant	3909	exon32			TCGGCGCCTTTGT	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.3951_3984delCCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC	18.37:g.21427447_21427480delCCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC	ENSP00000324532:p.Arg1317fs		23	0	0		26	0.27	7	NM_198129	0		0	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	37	CCDS42419.1																																																																																					0.624	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254824.3		NM_000227, NM_198129		-	21427480	CCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC	-	21427447	7	5	56	1	0	1	0	1	0	0	0	0	8622	726	26	0	4077	0	LAMA3	18	21427447	Frame_Shift_Del	DEL	CCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGC	TCGA-2G-AAKD-01A-31D-A42Y-10		21427447	56649801	35	4019											
RYR1	6261	hgsc.bcm.edu	37	chr19	38986924	38986924	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggcatgcacgagacGgtcatggaggtcatggtcaa	9	7	16	9	3	3	1	3	0	0	1	3	3	3	2	0	5	1	3	0	5	1	0	rs370261565		TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr19:38986924G>T	ENST00000359596.3	+	40	6618	c.6618G>T	c.(6616-6618)acG>acT	p.T2206T	RYR1_ENST00000360985.3_Silent_p.T2206T|RYR1_ENST00000355481.4_Silent_p.T2206T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2206	6 X approximate repeats.		T -> M (in MHS1; induces an increase sensitivity to caffeine; dbSNP:rs28934000). {ECO:0000269|PubMed:11575529, ECO:0000269|PubMed:12059893, ECO:0000269|PubMed:12208234, ECO:0000269|PubMed:15448513, ECO:0000269|PubMed:16163667, ECO:0000269|PubMed:23558838, ECO:0000269|PubMed:9497245}.|T -> R (in MHS1). {ECO:0000269|PubMed:16163667}.		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)	TGCACGAGACGGTCATGGAGG	0.632																																					p.T2206T													RYR1,NS,carcinoma,0,1	RYR1	0	1	0			c.G6618T												115	94	101					19																	38986924		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon40			CGAGACGGTCATG	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.6618G>T	19.37:g.38986924G>T			33	0	0		42	0.05	2	NM_001042723	0		0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																					0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462137.1				T	38986924	G	T	38986924	2	4	56	1	0	0	0	0	0	0	0	1	13791	1103	39	1		1	RYR1	19	38986924	Silent	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		38986924	20142059	36	4020											
ELMO2	63916	hgsc.bcm.edu	37	chr20	45014804	45014804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccacggtgatttcctcGgctatcttctggtacagact	6	14	9	12	2	2	2	0	1	2	1	5	2	4	2	2	3	1	2	2	3	2	4	rs201990540	byFrequency	TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr20:45014804G>A	ENST00000290246.6	-	9	830	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ELMO2_ENST00000439931.2_Silent_p.A212A|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Silent_p.A212A|ELMO2_ENST00000352077.2_Silent_p.A210A|ELMO2_ENST00000372176.1_Silent_p.A124A|ELMO2_ENST00000445496.2_Silent_p.A29A	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	212					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TGATTTCCTCGGCTATCTTCT	0.527													g|||	3	0.000599042	0.0015	0.0014	5008	,	,		19968	0		0	False		,,,				2504	0				p.A212A													ELMO2,NS,carcinoma,-1,1	ELMO2	-1	1	0			c.C636T												135	124	128					20																	45014804		2203	4300	6503	SO:0001819	synonymous_variant	63916	exon8			TTCCTCGGCTATC	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.636C>T	20.37:g.45014804G>A			43	0.023255814	1		64	0.08	5	NM_182764	4	0	0	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	CCDS13398.1																																																																																			0.002		0.527	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080466.1		NM_022086		A	45014804	G	A	45014804	2	1	56	1	0	0	0	0	0	0	0	1	5073	1103	39	1		1	ELMO2	20	45014804	Silent	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		45014804	18010716	37	4021											
CELSR1	9620	ucsc.edu	37	chr22	46768831	46768831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgtagtagaaccgcatggGccccgtgtcgatgttgcgca	8	8	14	11	5	0	1	0	0	0	1	1	3	0	1	3	1	2	5	3	1	3	3			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chr22:46768831G>A	ENST00000262738.3	-	25	7707	c.7708C>T	c.(7708-7710)Ccc>Tcc	p.P2570S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2570					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AACCGCATGGGCCCCGTGTCG	0.582																																					p.P2570S													.	CELSR1	242		0			c.C7708T												124	95	105					22																	46768831		2203	4300	6503	SO:0001583	missense	9620	exon25			GCATGGGCCCCGT	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7708C>T	22.37:g.46768831G>A	ENSP00000262738:p.Pro2570Ser		39	0	0		28	0.14	4	NM_014246	1	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	g	18.24	3.581367	0.65992	.	.	ENSG00000075275	ENST00000262738	T	0.36340	1.26	4.24	4.24	0.50183	GPCR, family 2-like (1);	0.076355	0.50627	U	0.000106	T	0.55097	0.1899	L	0.59436	1.845	0.80722	D	1	D;P	0.89917	1.0;0.932	D;P	0.79108	0.992;0.752	T	0.52888	-0.8515	10	0.31617	T	0.26	.	16.5871	0.84730	0.0:0.0:1.0:0.0	.	891;2570	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	S	2570	ENSP00000262738:P2570S	ENSP00000262738:P2570S	P	-	1	0	CELSR1	45147495	1.000000	0.71417	0.999000	0.59377	0.450000	0.32258	5.309000	0.65774	2.063000	0.61619	0.306000	0.20318	CCC			0.582	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		A	46768831	G	A	46768831	3	1	56	1	0	0	0	0	1	0	0	0	3223	1203	42	2	1380	2	CELSR1	22	46768831	Missense_Mutation	SNP	G	TCGA-2G-AAKD-01A-31D-A42Y-10		46768831	4535735	38	4022											
RBM3	5935	ucsc.edu	37	chrX	48434994	48434994	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagactataatggcaggTgggtagccaaagggctggga	12	6	16	7	0	0	1	0	0	0	1	0	3	0	2	2	5	1	3	2	5	4	3			TCGA-2G-AAKD-01A-31D-A42Y-10	TCGA-2G-AAKD-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	26d84898-bffe-4bf2-98b3-e2745b224de3	32a4f026-dca8-4f8c-81e8-2d7e8ea2d166	g.chrX:48434994T>G	ENST00000376759.3	+	5	476		c.e5+2		RBM3_ENST00000466764.1_Splice_Site|RBM3_ENST00000354480.2_Splice_Site|RBM3_ENST00000430348.2_Splice_Site|RBM3_ENST00000376755.1_Splice_Site|AC115618.1_ENST00000376775.2_5'Flank	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3						positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)	p.?(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TAATGGCAGGTGGGTAGCCAA	0.517																																					.													.	RBM3	20		1	Unknown(1)	ovary(1)	c.413+2T>G												59	56	57					X																	48434994		2193	4272	6465	SO:0001630	splice_region_variant	5935	exon5			GGCAGGTGGGTAG	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.413+2T>G	X.37:g.48434994T>G			39	0.1794871795	7		54	0.28	15	NM_006743	2	0	0		Splice_Site	SNP	ENST00000376759.3	37	CCDS14301.1	.	.	.	.	.	.	.	.	.	.	t	11.97	1.798592	0.31777	.	.	ENSG00000102317	ENST00000376759;ENST00000430348;ENST00000376755;ENST00000354480	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3004	0.43648	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM3	48319938	1.000000	0.71417	0.999000	0.59377	0.387000	0.30353	2.025000	0.41059	1.792000	0.52537	0.481000	0.45027	.			0.517	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060755.1		NM_006743	Intron	G	48434994	T	G	48434994	5	3	56	1	0	0	0	0	0	0	1	0	13152	1710	59	4	429	4	RBM3	23	48434994	Splice_Site	SNP	T	TCGA-2G-AAKD-01A-31D-A42Y-10		48434994	106835566	39	4023											
SLC2A7	155184	bcgsc.ca	37	chr1	9074839	9074839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaggtgcagcacagacagGtggccctcggcgcgctcggc	7	4	16	14	4	0	2	0	0	0	2	2	2	0	2	1	5	2	3	1	5	0	0			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:9074839G>T	ENST00000400906.1	-	7	803	c.804C>A	c.(802-804)caC>caA	p.H268Q		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	268					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCACAGACAGGTGGCCCTCGG	0.687																																					p.H268Q													.	SLC2A7	56		0			c.C804A												25	24	24					1																	9074839		2196	4293	6489	SO:0001583	missense	155184	exon7			AGACAGGTGGCCC	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.804C>A	1.37:g.9074839G>T	ENSP00000383698:p.His268Gln		50	0.02	1		86	0	0	NM_207420	1	0	0	A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	0.704	-0.789885	0.02884	.	.	ENSG00000197241	ENST00000400906	T	0.58506	0.33	4.12	2.12	0.27331	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.323070	0.04971	N	0.463895	T	0.27349	0.0671	N	0.01464	-0.85	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.23332	-1.0191	10	0.14252	T	0.57	.	4.2021	0.10471	0.0879:0.2699:0.4988:0.1434	.	268	Q6PXP3	GTR7_HUMAN	Q	268	ENSP00000383698:H268Q	ENSP00000383698:H268Q	H	-	3	2	SLC2A7	8997426	0.001000	0.12720	0.184000	0.23157	0.042000	0.13812	0.070000	0.14573	0.321000	0.23259	0.491000	0.48974	CAC			0.687	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127768.3		NM_207420		T	9074839	G	T	9074839	3	4	57	1	0	0	0	0	1	0	0	0	14573	1252	44	3	758	3	SLC2A7	1	9074839	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10		9074839	240175782	1	4024											
PTCHD2	57540	bcgsc.ca	37	chr1	11580781	11580781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatcttgtccctggtgttCgccagccggctccgccccgc	2	10	10	19	4	2	0	1	0	1	0	5	0	4	0	6	2	1	2	6	2	0	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:11580781C>T	ENST00000294484.6	+	10	2376	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	PTCHD2_ENST00000389575.3_Silent_p.F746F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	746					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)		CCCTGGTGTTCGCCAGCCGGC	0.662																																					p.F746F													.	PTCHD2	193		0			c.C2238T												33	38	37					1																	11580781		1942	4138	6080	SO:0001819	synonymous_variant	57540	exon10			GGTGTTCGCCAGC	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.2238C>T	1.37:g.11580781C>T			159	0.0062893082	1		300	0.01	2	NM_020780	1	0	0	Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	CCDS41247.1																																																																																					0.662	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000005770.2		XM_052561		T	11580781	C	T	11580781	2	4	57	1	0	0	0	0	0	0	0	1	12753	883	31	1		1	PTCHD2	1	11580781	Silent	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	2505942	11580781	237669840	2	4025											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809307	18809307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacgacccccgcctggaccGctgggactttgccccgccgc	4	7	11	19	5	0	0	0	0	0	0	0	3	0	2	7	2	2	1	7	2	1	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:18809307G>T	ENST00000400664.1	+	1	1884	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	611						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)		CGCCTGGACCGCTGGGACTTT	0.706																																					p.R611L													.	KLHDC7A	60		0			c.G1832T												23	24	24					1																	18809307		2202	4295	6497	SO:0001583	missense	127707	exon1			TGGACCGCTGGGA	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.1832G>T	1.37:g.18809307G>T	ENSP00000383505:p.Arg611Leu		63	0	0		144	0.02	3	NM_152375	0		0	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013987	0.75161	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78003	-1.14	5.2	3.32	0.38043	Kelch-type beta propeller (1);	0.065733	0.56097	D	0.000029	T	0.73923	0.3649	L	0.31526	0.94	0.35371	D	0.789094	P;P	0.43477	0.808;0.596	P;P	0.51516	0.672;0.539	T	0.78705	-0.2100	10	0.87932	D	0	.	8.8723	0.35323	0.079:0.0:0.7718:0.1492	.	548;611	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	L	611;548	ENSP00000383505:R611L	ENSP00000383505:R611L	R	+	2	0	KLHDC7A	18681894	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.036000	0.57304	0.577000	0.29470	0.561000	0.74099	CGC			0.706	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006923.3		NM_152375		T	18809307	G	T	18809307	3	4	57	1	0	0	0	0	1	0	0	0	8375	1087	38	1	1834	1	KLHDC7A	1	18809307	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	7228526	18809307	230441314	3	4026											
RPL5	6125	hgsc.bcm.edu;broad.mit.edu	37	chr1	93299200	93299201	+	Frame_Shift_Del	DEL	AG	AG	-																															tgatagttcgtgtgacaaacAgagatatcatttgtcaggta																										TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:93299200_93299201delAG	ENST00000370321.3	+	3	262_263	c.172_173delAG	c.(172-174)agafs	p.R58fs		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	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)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGTGACAAACAGAGATATCATT	0.371																																					p.57_58del													.	.			0			c.171_172del	GRCh37	CD086185	RPL5	D																																					SO:0001589	frameshift_variant	6125	exon3			ACAAACAGAGATA	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.172_173delAG	1.37:g.93299202_93299203delAG	ENSP00000359345:p.Arg58fs		48	0	0		49	0.35	17	NM_000969	1926	0	0	Q32LZ3|Q53HH6|Q9H3F4	Frame_Shift_Del	DEL	ENST00000370321.3	37	CCDS741.1																																																																																					0.371	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030058.2		NM_000969		-	93299201	AG	-	93299200	7	5	57	1	0	1	0	1	0	0	0	0	13620	180	7	0	182	0	RPL5	1	93299200	Frame_Shift_Del	DEL	AG	TCGA-2G-AAKG-01A-11D-A42Y-10	74489893	93299200	155951421	4	4027											
DCLRE1B	64858	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr1	114448290	114448290	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcaccgcacgtctcttcTtcttgtctcacatgcactcg	5	13	7	16	3	4	0	1	0	4	0	7	0	4	0	1	1	1	3	1	1	0	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:114448290T>A	ENST00000369563.3	+	1	528	c.82T>A	c.(82-84)Ttc>Atc	p.F28I	AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369569.1_5'Flank|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000256658.4_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	28					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)		ACGTCTCTTCTTCTTGTCTCA	0.617								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.F28I													.	.			0			c.T82A												75	76	76					1																	114448290		2203	4300	6503	SO:0001583	missense	64858	exon1			CTCTTCTTCTTGT	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.82T>A	1.37:g.114448290T>A	ENSP00000358576:p.Phe28Ile		109	0	0	1458	174	0.15	26	NM_022836	6	0.17	1	Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	T	36	5.696758	0.96802	.	.	ENSG00000118655	ENST00000369563	T	0.74106	-0.81	5.28	5.28	0.74379	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89186	0.3547	10	0.87932	D	0	-8.3128	15.2399	0.73461	0.0:0.0:0.0:1.0	.	28	Q9H816	DCR1B_HUMAN	I	28	ENSP00000358576:F28I	ENSP00000358576:F28I	F	+	1	0	DCLRE1B	114249813	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	7.776000	0.85560	1.998000	0.58463	0.459000	0.35465	TTC			0.617	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033020.2		NM_022836		A	114448290	T	A	114448290	3	1	57	1	0	0	0	0	1	0	0	0	4297	1609	56	5	84	5	DCLRE1B	1	114448290	Missense_Mutation	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10	21149090	114448290	134802331	5	4028											
FAM5B	57795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr1	177249621	177249621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctttcctggcactttcCtggaacagagccacagctgc	8	9	9	15	0	0	1	0	0	0	1	2	2	2	2	4	2	4	3	4	2	1	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:177249621C>T	ENST00000361539.4	+	8	1621	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	437					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)	extracellular region (GO:0005576)											TGGCACTTTCCTGGAACAGAG	0.582																																					p.L437L													.	.			0			c.C1309T												65	58	60					1																	177249621		2203	4300	6503	SO:0001819	synonymous_variant	57795	exon8			ACTTTCCTGGAAC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1309C>T	1.37:g.177249621C>T			287	0	0		311	0.22	68	NM_021165	0		0	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	CCDS1320.1																																																																																					0.582	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084599.1		NM_021165		T	177249621	C	T	177249621	2	4	57	1	0	0	0	0	0	0	0	1	5606	680	24	3		3	FAM5B	1	177249621	Silent	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	62801331	177249621	72001000	6	4029											
FAM5C	339479	bcgsc.ca	37	chr1	190068175	190068175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtcattcggacacgtgcacGagtgcgtctcttctgaaaag	9	10	12	10	4	3	1	1	1	2	0	5	3	3	2	0	2	2	1	0	2	2	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:190068175G>C	ENST00000367462.3	-	8	1505	c.1274C>G	c.(1273-1275)tCg>tGg	p.S425W	BRINP3_ENST00000534846.1_Missense_Mutation_p.S323W	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	425					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)											ACACGTGCACGAGTGCGTCTC	0.562																																					p.S425W													FAM5C,NS,carcinoma,+1,3	FAM5C	343	3	0			c.C1274G												53	41	45					1																	190068175		2203	4300	6503	SO:0001583	missense	339479	exon8			GTGCACGAGTGCG	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.1274C>G	1.37:g.190068175G>C	ENSP00000356432:p.Ser425Trp		101	0	0		65	0	0	NM_199051	0		0	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290088	0.59976	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	D;D	0.87571	-2.27;-2.27	5.65	5.65	0.86999	.	0.117525	0.56097	D	0.000029	D	0.88811	0.6538	L	0.52573	1.65	0.80722	D	1	D;P	0.54964	0.969;0.947	P;P	0.51415	0.669;0.469	D	0.89843	0.4004	10	0.87932	D	0	.	17.2216	0.86959	0.0:0.0:1.0:0.0	.	323;425	B7Z260;Q76B58	.;FAM5C_HUMAN	W	425;323	ENSP00000356432:S425W;ENSP00000438022:S323W	ENSP00000356432:S425W	S	-	2	0	FAM5C	188334798	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.388000	0.59633	2.656000	0.90262	0.591000	0.81541	TCG			0.562	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086278.1		NM_199051		C	190068175	G	C	190068175	3	2	57	1	0	0	0	0	1	0	0	0	5607	1059	37	5	1030	5	FAM5C	1	190068175	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	12818554	190068175	59182446	7	4030											
EPRS	2058	broad.mit.edu	37	chr1	220151968	220151968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgcggatgttaacactgaGtaatcgccttcgataatcat	13	11	8	9	4	1	1	1	1	0	0	3	3	1	2	1	1	2	2	1	1	4	4	rs528956807		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:220151968G>T	ENST00000366923.3	-	28	4272	c.4003C>A	c.(4003-4005)Ctc>Atc	p.L1335I		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1335	Proline--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)	TTAACACTGAGTAATCGCCTT	0.393																																					p.L1335I													EPRS,NS,carcinoma,0,1	EPRS	140	1	0			c.C4003A												145	134	138					1																	220151968		2203	4300	6503	SO:0001583	missense	2058	exon28			CACTGAGTAATCG	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.4003C>A	1.37:g.220151968G>T	ENSP00000355890:p.Leu1335Ile		105	0	0		83	0.06	5	NM_004446	235	0	1	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315494	0.60524	.	.	ENSG00000136628	ENST00000366923	D	0.83335	-1.71	5.92	5.92	0.95590	Anticodon-binding (3);	0.126324	0.56097	D	0.000029	T	0.81250	0.4783	L	0.46157	1.445	0.53005	D	0.999961	B	0.16802	0.019	B	0.23275	0.045	T	0.74067	-0.3784	10	0.37606	T	0.19	-4.4942	20.3214	0.98679	0.0:0.0:1.0:0.0	.	1335	P07814	SYEP_HUMAN	I	1335	ENSP00000355890:L1335I	ENSP00000355890:L1335I	L	-	1	0	EPRS	218218591	1.000000	0.71417	0.119000	0.21687	0.715000	0.41141	7.863000	0.87023	2.804000	0.96469	0.655000	0.94253	CTC			0.393	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091133.2		NM_004446		T	220151968	G	T	220151968	3	4	57	1	0	0	0	0	1	0	0	0	5198	1029	36	3	555	3	EPRS	1	220151968	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	30083793	220151968	29098653	8	4031											
KIDINS220	57498	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr2	8919088	8919088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacgagaaattttcttgcaTtgcttagtccacgactatta	11	16	6	8	2	1	1	0	0	1	1	2	3	2	1	1	0	3	2	1	0	5	8			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:8919088T>C	ENST00000256707.3	-	19	2733	c.2552A>G	c.(2551-2553)aAt>aGt	p.N851S	KIDINS220_ENST00000473731.1_Missense_Mutation_p.N851S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N851S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.N852S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.N809S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	851	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTTCTTGCATTGCTTAGTCC	0.408																																					p.N851S													.	.			0			c.A2552G												196	180	185					2																	8919088		1911	4139	6050	SO:0001583	missense	57498	exon19			CTTGCATTGCTTA	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2552A>G	2.37:g.8919088T>C	ENSP00000256707:p.Asn851Ser		105	0	0		78	0.26	20	NM_020738	4	0	0	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	5.447	0.267646	0.10294	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.64	-1.62	0.08372	KAP P-loop (1);	0.463344	0.26816	N	0.022358	T	0.15998	0.0385	N	0.16478	0.41	0.30723	N	0.748066	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.001;0.002;0.004	T	0.19128	-1.0315	10	0.22706	T	0.39	.	12.5735	0.56352	0.0:0.5416:0.0:0.4584	.	852;852;809;851	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	S	598;535;851;851;809;851;852;852	ENSP00000420364:N598S;ENSP00000256707:N851S;ENSP00000411849:N851S;ENSP00000414923:N809S;ENSP00000418974:N851S;ENSP00000419964:N852S;ENSP00000319947:N852S	ENSP00000256707:N851S	N	-	2	0	KIDINS220	8836539	0.011000	0.17503	0.702000	0.30337	0.613000	0.37349	0.061000	0.14366	-0.096000	0.12329	0.528000	0.53228	AAT			0.408	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323408.2		NM_020738		C	8919088	T	C	8919088	3	2	57	1	0	0	0	0	1	0	0	0	8286	1493	52	4	2811	4	KIDINS220	2	8919088	Missense_Mutation	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10		8919088	234280285	9	4032											
XDH	7498	bcgsc.ca	37	chr2	31602747	31602747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcacctccctgctgtaggGgatctctatggagagcagta	8	11	11	11	0	2	1	1	0	2	1	5	3	3	2	2	3	2	4	2	3	3	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:31602747G>A	ENST00000379416.3	-	13	1276	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	410	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTGCTGTAGGGGATCTCTATG	0.527																																					p.P410S	Colon(66;682 1445 30109 40147)												.	XDH	191		0			c.C1228T												117	113	114					2																	31602747		2203	4300	6503	SO:0001583	missense	7498	exon13			TGTAGGGGATCTC	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1228C>T	2.37:g.31602747G>A	ENSP00000368727:p.Pro410Ser		98	0	0		84	0	0	NM_000379	1	0	0	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254930	0.95336	.	.	ENSG00000158125	ENST00000379416	D	0.87334	-2.24	6.11	6.11	0.99139	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96968	0.9706	10	0.87932	D	0	.	20.3446	0.98786	0.0:0.0:1.0:0.0	.	410	P47989	XDH_HUMAN	S	410	ENSP00000368727:P410S	ENSP00000368727:P410S	P	-	1	0	XDH	31456251	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.271000	0.95698	2.906000	0.99361	0.655000	0.94253	CCC			0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216840.1		NM_000379		A	31602747	G	A	31602747	3	1	57	1	0	0	0	0	1	0	0	0	17450	1232	43	3	2869	3	XDH	2	31602747	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	22683659	31602747	211596626	10	4033											
PKDCC	91461	bcgsc.ca	37	chr2	42275878	42275878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctgggcagctgcgtgcGcgagttcggggtacggaggg	5	7	20	9	6	1	0	0	0	1	0	2	3	1	1	0	5	4	4	0	5	1	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:42275878G>T	ENST00000294964.5	+	1	719	c.539G>T	c.(538-540)cGc>cTc	p.R180L		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						AGCTGCGTGCGCGAGTTCGGG	0.697																																					p.R180L													.	PKDCC	21		0			c.G539T												7	10	9					2																	42275878		683	1583	2266	SO:0001583	missense	91461	exon1			GCGTGCGCGAGTT		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"vertebrate lonesome kinase"	614150	"protein kinase domain containing, cytoplasmic homolog (mouse)"			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.539G>T	2.37:g.42275878G>T	ENSP00000294964:p.Arg180Leu		29	0	0		54	0	0	NM_138370	54	0	0		Missense_Mutation	SNP	ENST00000294964.5	37	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157496	0.38119	.	.	ENSG00000162878	ENST00000294964	.	.	.	3.49	3.49	0.39957	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.52289	0.1725	L	0.55743	1.74	0.36966	D	0.893578	P	0.47484	0.896	P	0.47015	0.534	T	0.61113	-0.7128	8	0.41790	T	0.15	-6.1909	11.8623	0.52474	0.0:0.1775:0.8225:0.0	.	180	Q504Y2	PKDCC_HUMAN	L	180	.	ENSP00000294964:R180L	R	+	2	0	PKDCC	42129382	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.853000	0.39358	1.782000	0.52362	0.297000	0.19635	CGC			0.697	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325745.3				T	42275878	G	T	42275878	3	4	57	1	0	0	0	0	1	0	0	0	11986	1087	38	1	541	1	PKDCC	2	42275878	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	10673131	42275878	200923495	11	4034											
MRPS5	64969	bcgsc.ca	37	chr2	95753180	95753180	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacatcttcccagtccagTttgacgtctggaacctcatc	8	13	6	14	1	4	1	2	1	2	0	7	2	6	2	3	1	1	1	3	1	1	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:95753180T>C	ENST00000272418.2	-	12	1423	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	405					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						CCCAGTCCAGTTTGACGTCTG	0.567																																					p.K405K													.	MRPS5	52		0			c.A1215G												102	93	96					2																	95753180		2203	4300	6503	SO:0001819	synonymous_variant	64969	exon12			GTCCAGTTTGACG	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.1215A>G	2.37:g.95753180T>C			113	0	0		86	0	0	NM_031902	431	0	0	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	CCDS2010.1																																																																																					0.567	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252772.1		NM_031902		C	95753180	T	C	95753180	2	2	57	1	0	0	0	0	0	0	0	1	9862	1722	60	4		4	MRPS5	2	95753180	Silent	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10	53477302	95753180	147446193	12	4035											
KIAA1310	55683	bcgsc.ca	37	chr2	97276835	97276835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacagtaagcagaggaaacCcaaggcagacaactgcagtg	16	3	11	11	0	0	2	0	0	0	2	0	3	0	3	2	2	4	4	2	2	4	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:97276835C>T	ENST00000431828.1	-	10	1203	c.1127G>A	c.(1126-1128)gGg>gAg	p.G376E	KANSL3_ENST00000599854.1_Missense_Mutation_p.G289E|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.G170E|KANSL3_ENST00000441706.2_Missense_Mutation_p.G289E			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	376					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)											CAGAGGAAACCCAAGGCAGAC	0.507																																					p.G376E													.	.			0			c.G1127A												144	147	146					2																	97276835		2079	4214	6293	SO:0001583	missense	55683	exon10			GGAAACCCAAGGC	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.1127G>A	2.37:g.97276835C>T	ENSP00000396749:p.Gly376Glu		89	0	0		103	0	0	NM_001115016	8	0	0	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191360	0.94923	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.23147	1.92;1.92;1.92	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.60388	-0.7273	10	0.87932	D	0	.	17.6117	0.88055	0.0:1.0:0.0:0.0	.	170;376;289;264	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	E	289;264;376;289;170;170;289	ENSP00000396749:G376E;ENSP00000400678:G289E;ENSP00000406207:G170E	ENSP00000346144:G289E	G	-	2	0	KIAA1310	96640562	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.718000	0.84743	2.759000	0.94783	0.557000	0.71058	GGG			0.507	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339040.2		NM_017991		T	97276835	C	T	97276835	3	4	57	1	0	0	0	0	1	0	0	0	8237	623	22	3	1557	3	KIAA1310	2	97276835	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	1523655	97276835	145922538	13	4036											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr2	152484132	152484132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagttcttgtagtccacatCgctgactaaggtctggcact	8	13	10	10	1	2	1	0	1	2	0	4	1	3	1	1	2	0	5	1	2	3	5	rs377180119		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:152484132C>T	ENST00000172853.10	-	65	9466	c.9319G>A	c.(9319-9321)Gat>Aat	p.D3107N	NEB_ENST00000603639.1_Missense_Mutation_p.D3350N|NEB_ENST00000409198.1_Missense_Mutation_p.D3107N|NEB_ENST00000397345.3_Missense_Mutation_p.D3350N|NEB_ENST00000427231.2_Missense_Mutation_p.D3350N|NEB_ENST00000604864.1_Missense_Mutation_p.D3350N			P20929	NEBU_HUMAN	nebulin	3107					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)		TAGTCCACATCGCTGACTAAG	0.537																																					p.D3350N													.	.			0			c.G10048A							C	ASN/ASP,ASN/ASP,ASN/ASP	0,4256		0,0,2128	324	319	321		10048,10048,9319	5.6	0.5	2		321	2,8440		0,2,4219	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	23,23,23	0,2,6347	TT,TC,CC		0.0237,0.0,0.0158	possibly-damaging,possibly-damaging,possibly-damaging	3350/8526,3350/8526,3107/6670	152484132	2,12696	2128	4221	6349	SO:0001583	missense	4703	exon69			CCACATCGCTGAC	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.9319G>A	2.37:g.152484132C>T	ENSP00000172853:p.Asp3107Asn		188	0	0		171	0.18	31	NM_001271208	0		0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.947621	0.73787	0.0	2.37E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.58	5.58	0.84498	.	0.047750	0.85682	D	0.000000	T	0.48095	0.1481	M	0.73430	2.235	0.80722	D	1	P	0.51791	0.948	B	0.40741	0.339	T	0.55237	-0.8172	10	0.46703	T	0.11	.	19.5796	0.95461	0.0:1.0:0.0:0.0	.	3107	P20929	NEBU_HUMAN	N	3107;3350;3350;3107	ENSP00000386259:D3107N;ENSP00000380505:D3350N;ENSP00000416578:D3350N;ENSP00000172853:D3107N	ENSP00000172853:D3107N	D	-	1	0	NEB	152192378	0.998000	0.40836	0.545000	0.28153	0.274000	0.26718	2.534000	0.45676	2.624000	0.88883	0.655000	0.94253	GAT			0.537	NEB-201	KNOWN	basic	protein_coding	protein_coding				NM_004543		T	152484132	C	T	152484132	3	4	57	1	0	0	0	0	1	0	0	0	10319	884	31	1	16094	1	NEB	2	152484132	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	55207297	152484132	90715241	14	4037											
CRYGB	1419	broad.mit.edu	37	chr2	209007463	209007463	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcagcagatactgccTccccctgtagttgggcatct	6	10	10	15	1	2	1	1	0	1	1	3	1	3	1	4	2	3	4	4	2	2	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:209007463T>C	ENST00000260988.4	-	3	474	c.427A>G	c.(427-429)Agg>Ggg	p.R143G		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	143	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGATACTGCCTCCCCCTGTAG	0.532																																					p.R143G													CRYGB,trunk,malignant_melanoma,+1,1	CRYGB	24	1	0			c.A427G												97	97	97					2																	209007463		2203	4300	6503	SO:0001583	missense	1419	exon3			ACTGCCTCCCCCT		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.427A>G	2.37:g.209007463T>C	ENSP00000260988:p.Arg143Gly		200	0.005	1		218	0.03	6	NM_005210	3	0	0	Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086675	0.36855	.	.	ENSG00000182187	ENST00000260988	T	0.79033	-1.23	4.73	-2.91	0.05631	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.087422	0.85682	D	0.000000	D	0.83963	0.5368	H	0.97635	4.045	0.30931	N	0.726935	B	0.22480	0.07	B	0.32533	0.147	T	0.80527	-0.1343	10	0.87932	D	0	.	11.0176	0.47698	0.1151:0.0:0.6542:0.2307	.	143	P07316	CRGB_HUMAN	G	143	ENSP00000260988:R143G	ENSP00000260988:R143G	R	-	1	2	CRYGB	208715708	0.000000	0.05858	0.147000	0.22382	0.993000	0.82548	-0.662000	0.05305	-0.516000	0.06470	0.459000	0.35465	AGG			0.532	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256473.2		NM_005210		C	209007463	T	C	209007463	3	2	57	1	0	0	0	0	1	0	0	0	3917	1550	54	4	104	4	CRYGB	2	209007463	Missense_Mutation	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10	56523331	209007463	34191910	15	4038											
TNS1	7145	bcgsc.ca	37	chr2	218751314	218751314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacgtggtgcagaaacaaggGcttgttgttcattttgatgg	9	13	13	6	1	1	2	1	1	0	1	1	2	1	2	0	3	2	4	0	3	2	5			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:218751314G>A	ENST00000171887.4	-	11	999	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	TNS1_ENST00000310858.6_Missense_Mutation_p.P214S|TNS1_ENST00000419504.1_Missense_Mutation_p.P183S|TNS1_ENST00000430930.1_Missense_Mutation_p.P183S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	183	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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)		AGAAACAAGGGCTTGTTGTTC	0.542											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P183S													.	TNS1	251		0			c.C547T												152	129	136					2																	218751314		2203	4300	6503	SO:0001583	missense	7145	exon11			ACAAGGGCTTGTT	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.547C>T	2.37:g.218751314G>A	ENSP00000171887:p.Pro183Ser		98	0	0	2253	126	0	0	NM_022648	6	0	0	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232524	0.95207	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.16	5.16	0.70880	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.69823	2.125	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.873;0.977;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	0.999;0.739;0.919;1.0;0.999;0.999	D	0.91301	0.5067	10	0.46703	T	0.11	.	18.835	0.92159	0.0:0.0:1.0:0.0	.	183;237;214;183;183;183	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	S	183;183;183;308;251;214	ENSP00000171887:P183S;ENSP00000408724:P183S;ENSP00000406016:P183S;ENSP00000405460:P308S;ENSP00000400383:P251S;ENSP00000308321:P214S	ENSP00000171887:P183S	P	-	1	0	TNS1	218459559	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.451000	0.73481	2.687000	0.91594	0.596000	0.82720	CCC			0.542	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256672.2		NM_022648		A	218751314	G	A	218751314	3	1	57	1	0	0	0	0	1	0	0	0	16366	1203	42	2	4752	2	TNS1	2	218751314	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	9743851	218751314	24448059	16	4039											
ALPPL2	251	bcgsc.ca	37	chr2	233271791	233271791	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagaacccggacttctGgaaccgccaggcagccgagg	10	3	16	12	3	1	1	0	0	1	1	1	6	1	4	4	6	3	1	4	6	2	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:233271791G>C	ENST00000295453.3	+	2	144	c.92G>C	c.(91-93)tGg>tCg	p.W31S		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	31					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CCGGACTTCTGGAACCGCCAG	0.632																																					p.W31S													.	ALPPL2	36		0			c.G92C												66	81	76					2																	233271791		2203	4300	6503	SO:0001583	missense	251	exon2			ACTTCTGGAACCG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.92G>C	2.37:g.233271791G>C	ENSP00000295453:p.Trp31Ser		80	0	0		75	0	0	NM_031313	93	0	0	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662700	0.29515	.	.	ENSG00000163286	ENST00000295453	D	0.82711	-1.64	2.19	2.19	0.27852	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.131587	0.56097	D	0.000035	D	0.90896	0.7139	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90586	0.4533	10	0.87932	D	0	.	7.7777	0.29048	0.126:0.0:0.874:0.0	.	31	P10696	PPBN_HUMAN	S	31	ENSP00000295453:W31S	ENSP00000295453:W31S	W	+	2	0	ALPPL2	232980035	1.000000	0.71417	0.940000	0.37924	0.064000	0.16182	8.860000	0.92272	1.528000	0.49103	0.205000	0.17691	TGG			0.632	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257034.2		NM_031313		C	233271791	G	C	233271791	3	2	57	1	0	0	0	0	1	0	0	0	549	1357	47	5	98	5	ALPPL2	2	233271791	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	14520477	233271791	9927582	17	4040											
PRICKLE2	166336	bcgsc.ca	37	chr3	64142837	64142837	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgctggagtttgctctaaCctcatcgcaggcagcacagc	8	9	10	14	1	2	0	1	0	1	0	3	1	2	1	2	2	5	6	2	2	1	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:64142837C>A	ENST00000295902.6	-	5	1186		c.e5+1		PRICKLE2_ENST00000564377.1_Splice_Site	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)						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)		TTTGCTCTAACCTCATCGCAG	0.527																																					.													.	PRICKLE2	88		0			c.600+1G>T												68	65	66					3																	64142837		2203	4300	6503	SO:0001630	splice_region_variant	166336	exon6			CTCTAACCTCATC	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.600+1G>T	3.37:g.64142837C>A			220	0	0		192	0	0	NM_198859	0		0	Q0VF44	Splice_Site	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009362	0.75046	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0989	0.97860	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRICKLE2	64117877	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.776000	0.85560	2.764000	0.94973	0.650000	0.86243	.			0.527	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000352219.1		NM_198859	Intron	A	64142837	C	A	64142837	5	1	57	1	0	0	0	0	0	0	1	0	12507	521	18	3	1949	3	PRICKLE2	3	64142837	Splice_Site	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10		64142837	133879593	18	4041											
CASR	846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr3	122002841	122002841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gactggacgtgccgcctgcgCcagccggcctttggcatcag	5	7	14	15	4	1	0	1	0	0	0	1	2	1	1	5	3	3	1	5	3	0	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:122002841C>T	ENST00000490131.1	+	7	2412	c.2040C>T	c.(2038-2040)cgC>cgT	p.R680R	CASR_ENST00000296154.5_Silent_p.R680R|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Silent_p.R690R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	680					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCGCCTGCGCCAGCCGGCCT	0.607																																					p.R690R													.	.			0			c.C2070T												93	79	84					3																	122002841		2203	4300	6503	SO:0001819	synonymous_variant	846	exon7			CCTGCGCCAGCCG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2040C>T	3.37:g.122002841C>T			85	0	0		157	0.38	60	NM_001178065	0		0	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	CCDS3010.1																																																																																					0.607	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355761.1		NM_000388		T	122002841	C	T	122002841	2	4	57	1	0	0	0	0	0	0	0	1	2684	726	26	2		2	CASR	3	122002841	Silent	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	57860004	122002841	76019589	19	4042											
SEMA5B	54437	broad.mit.edu	37	chr3	122640965	122640967	+	In_Frame_Del	DEL	CGA	CGA	-																															agcgccttcaggatggtgccCgactctggaggagaggggga																								rs371380542		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	CGA	CGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:122640965_122640967delCGA	ENST00000357599.3	-	12	1869_1871	c.1483_1485delTCG	c.(1483-1485)tcgdel	p.S495del	SEMA5B_ENST00000451055.2_In_Frame_Del_p.S549del|SEMA5B_ENST00000195173.4_In_Frame_Del_p.S495del	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	495	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGATGGTGCCCGACTCTGGAGGA	0.724																																					p.549_549del													.	SEMA5B	303		0			c.1645_1647del																																									SO:0001651	inframe_deletion	54437	exon12			GGTGCCCGACTCT	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1483_1485delTCG	3.37:g.122640965_122640967delCGA	ENSP00000350215:p.Ser495del		47	0	0		108	0.07	8	NM_001256347	0		0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	In_Frame_Del	DEL	ENST00000357599.3	37	CCDS35491.1																																																																																					0.724	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000277165.1		NM_001031702		-	122640967	CGA	-	122640965	7	5	57	1	0	1	0	1	0	0	0	0	14061	639	23	0	2018	0	SEMA5B	3	122640965	In_Frame_Del	DEL	CGA	TCGA-2G-AAKG-01A-11D-A42Y-10	638124	122640965	75381465	20	4043											
USP46	64854	bcgsc.ca	37	chr4	53492336	53492336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgtttcttctcctccTgaaggatgtccgcaatagtg	6	16	8	11	1	2	1	0	1	2	0	6	2	5	2	4	1	0	2	4	1	3	4			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:53492336T>C	ENST00000441222.3	-	4	594	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	USP46_ENST00000451218.2_Missense_Mutation_p.Q110R|USP46_ENST00000508499.1_Missense_Mutation_p.Q130R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	137	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)			CTTCTCCTCCTGAAGGATGTC	0.378																																					p.Q137R													.	USP46	38		0			c.A410G												108	98	101					4																	53492336		1819	4088	5907	SO:0001583	missense	64854	exon4			TCCTCCTGAAGGA	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.410A>G	4.37:g.53492336T>C	ENSP00000407818:p.Gln137Arg		144	0	0		106	0	0	NM_022832	2	0	0	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	T	8.589	0.884064	0.17467	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.30448	1.53;1.53;1.53	5.27	5.27	0.74061	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000038	T	0.24392	0.0591	L	0.42581	1.335	0.58432	D	0.999997	B;B;B;B	0.09022	0.002;0.0;0.0;0.002	B;B;B;B	0.15052	0.012;0.008;0.008;0.008	T	0.07177	-1.0786	10	0.18710	T	0.47	-10.3519	9.9961	0.41900	0.1507:0.0:0.0:0.8493	.	21;125;137;130	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	R	137;110;130	ENSP00000407818:Q137R;ENSP00000390102:Q110R;ENSP00000423244:Q130R	ENSP00000407818:Q137R	Q	-	2	0	USP46	53187093	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	6.060000	0.71141	2.127000	0.65507	0.528000	0.53228	CAG			0.378	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361516.2		NM_022832		C	53492336	T	C	53492336	3	2	57	1	0	0	0	0	1	0	0	0	17101	1580	55	4	714	4	USP46	4	53492336	Missense_Mutation	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10		53492336	137661940	21	4044											
FAT4	79633	bcgsc.ca	37	chr4	126237899	126237899	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatcaacctggtggtcctTtccagcgcgcccacctaccc	6	9	9	17	2	1	1	1	1	0	0	3	1	3	1	6	2	3	0	6	2	2	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:126237899T>C	ENST00000394329.3	+	1	346	c.333T>C	c.(331-333)ctT>ctC	p.L111L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTGGTCCTTTCCAGCGCGC	0.617											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L111L													FAT4_ENST00000394329,larynx,carcinoma,+2,2	FAT4	1752	2	0			c.T333C												42	51	48					4																	126237899		2155	4260	6415	SO:0001819	synonymous_variant	79633	exon1			GGTCCTTTCCAGC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.333T>C	4.37:g.126237899T>C			60	0	0	1548	55	0	0	NM_024582	0		0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																					0.617	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256765.2		NM_024582		C	126237899	T	C	126237899	2	2	57	1	0	0	0	0	0	0	0	1	5705	1828	64	4		4	FAT4	4	126237899	Silent	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10	72745563	126237899	64916377	22	4045											
SMARCA5	8467	bcgsc.ca	37	chr4	144445568	144445571	+	Frame_Shift_Del	DEL	AGAA	AGAA	-																															gaggatgaagagctattaacAgaaagctccaaagcaaccaa																										TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AGAA	AGAA					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:144445568_144445571delAGAA	ENST00000283131.3	+	4	930_933	c.468_471delAGAA	c.(466-471)acagaafs	p.TE156fs		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	156					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)					AGCTATTAACAGAAAGCTCCAAAG	0.358																																					p.156_157del													.	SMARCA5	73		0			c.468_471del																																									SO:0001589	frameshift_variant	8467	exon4			ATTAACAGAAAGC	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.468_471delAGAA	4.37:g.144445568_144445571delAGAA	ENSP00000283131:p.Thr156fs		371	0	0		240	0	0	NM_003601	29	0	0		Frame_Shift_Del	DEL	ENST00000283131.3	37	CCDS3761.1																																																																																					0.358	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365077.3				-	144445571	AGAA	-	144445568	7	5	57	1	0	1	0	1	0	0	0	0	14794	175	7	0	482	0	SMARCA5	4	144445568	Frame_Shift_Del	DEL	AGAA	TCGA-2G-AAKG-01A-11D-A42Y-10	18207669	144445568	46708708	23	4046											
CDC23	8697	broad.mit.edu	37	chr5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgaagcaggtaggaaaaAgggagcaggcacctcggtgg	13	4	18	6	1	0	1	0	1	0	0	1	4	0	3	1	6	2	4	1	6	4	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	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																																					p.F571L													.	CDC23	46		0			c.T1711C												204	185	191					5																	137524750		2203	4300	6503	SO:0001583	missense	8697	exon16			GGAAAAAGGGAGC	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		142	0.0070422535	1		106	0.04	4	NM_004661	56	0	0	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	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				G	137524750	A	G	137524750	3	3	57	1	0	0	0	0	1	0	0	0	3063	72	3	4	86	4	CDC23	5	137524750	Missense_Mutation	SNP	A	TCGA-2G-AAKG-01A-11D-A42Y-10		137524750	43390510	24	4047											
EBF1	1879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr5	158158144	158158144	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacctctggaaaccataaTcgatggtgggttcgttgagc	10	11	12	8	2	1	1	0	1	1	0	3	3	1	2	2	3	3	3	2	3	3	4			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr5:158158144T>C	ENST00000313708.6	-	11	1340	c.1058A>G	c.(1057-1059)gAt>gGt	p.D353G	EBF1_ENST00000517373.1_Missense_Mutation_p.D345G|EBF1_ENST00000380654.4_Missense_Mutation_p.D322G|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	353					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)			GAAACCATAATCGATGGTGGG	0.438			T	HMGA2	lipoma																																p.D353G				Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.			0			c.A1058G												64	65	65					5																	158158144		2203	4300	6503	SO:0001583	missense	1879	exon11			CCATAATCGATGG	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.1058A>G	5.37:g.158158144T>C	ENSP00000322898:p.Asp353Gly		80	0	0		49	0.43	21	NM_024007	1	1	1	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818311	0.90790	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.88046	-2.33;-2.33;-2.33	5.51	5.51	0.81932	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.85197	2.74	0.80722	D	1	D;D;B;D	0.69078	0.997;0.994;0.122;0.985	D;D;B;P	0.69824	0.95;0.966;0.11;0.908	D	0.94711	0.7892	10	0.87932	D	0	-6.9183	15.9209	0.79570	0.0:0.0:0.0:1.0	.	353;340;353;322	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	G	353;353;322;345	ENSP00000322898:D353G;ENSP00000370029:D322G;ENSP00000428020:D345G	ENSP00000322898:D353G	D	-	2	0	EBF1	158090722	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	7.655000	0.83696	2.210000	0.71456	0.533000	0.62120	GAT			0.438	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000252649.1		NM_024007		C	158158144	T	C	158158144	3	2	57	1	0	0	0	0	1	0	0	0	4885	1435	50	4	741	4	EBF1	5	158158144	Missense_Mutation	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10	20633394	158158144	22757116	25	4048											
ABT1	29777	bcgsc.ca	37	chr6	26598339	26598339	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatctttggaacctcaagGtgagaagatagatctttctg	12	13	10	6	0	4	4	1	2	3	3	4	6	4	5	1	2	1	0	1	2	4	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:26598339G>T	ENST00000274849.1	+	2	469		c.e2+1			NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GAACCTCAAGGTGAGAAGATA	0.577																																					.													.	ABT1	39		0			c.438+1G>T												53	51	52					6																	26598339		2203	4300	6503	SO:0001630	splice_region_variant	29777	exon2			CTCAAGGTGAGAA	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.438+1G>T	6.37:g.26598339G>T			105	0	0		100	0	0	NM_013375	0		0		Splice_Site	SNP	ENST00000274849.1	37	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	.	19.48	3.836024	0.71373	.	.	ENSG00000146109	ENST00000274849	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4978	0.67700	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABT1	26706318	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.237000	0.89807	2.195000	0.70347	0.558000	0.71614	.			0.577	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043698.1			Intron	T	26598339	G	T	26598339	5	4	57	1	0	0	0	0	0	0	1	0	101	1275	44	3	445	3	ABT1	6	26598339	Splice_Site	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10		26598339	144516728	26	4049											
REV3L	5980	bcgsc.ca	37	chr6	111804004	111804004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcaccttcttgacaggggCctgggtgaggggggattggc	5	8	19	9	1	1	2	0	2	1	0	1	3	1	3	2	8	0	1	2	8	0	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:111804004C>A	ENST00000358835.3	-	2	542	c.88G>T	c.(88-90)Gcc>Tcc	p.A30S	TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000525151.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|REV3L_ENST00000435970.1_5'UTR|TRAF3IP2-AS1_ENST00000438298.2_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.A30S|TRAF3IP2-AS1_ENST00000532226.1_RNA|REV3L_ENST00000368802.3_Missense_Mutation_p.A30S|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000440001.2_RNA|TRAF3IP2-AS1_ENST00000420651.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	30					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)		TTGACAGGGGCCTGGGTGAGG	0.692								DNA polymerases (catalytic subunits)																													p.A30S													.	REV3L	386		0			c.G88T												17	21	20					6																	111804004		1817	4064	5881	SO:0001583	missense	5980	exon1			CAGGGGCCTGGGT	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.88G>T	6.37:g.111804004C>A	ENSP00000351697:p.Ala30Ser		75	0	0		119	0	0	NM_002912	0		0	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.123539	0.01770	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835	T;T;T	0.01240	5.12;5.12;5.12	3.35	-4.6	0.03390	Ribonuclease H-like (1);	0.761893	0.12209	N	0.489558	T	0.00144	0.0004	N	0.01242	-0.935	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25222	-1.0138	10	0.07325	T	0.83	.	2.4295	0.04468	0.1159:0.4579:0.234:0.1922	.	30	O60673	DPOLZ_HUMAN	S	30	ENSP00000357792:A30S;ENSP00000357795:A30S;ENSP00000351697:A30S	ENSP00000351697:A30S	A	-	1	0	REV3L	111910697	1.000000	0.71417	0.359000	0.25824	0.049000	0.14656	1.217000	0.32455	-1.351000	0.02197	-1.358000	0.01219	GCC			0.692	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043695.1		NM_002912		A	111804004	C	A	111804004	3	1	57	1	0	0	0	0	1	0	0	0	13263	739	26	2	9432	2	REV3L	6	111804004	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	85205665	111804004	59311063	27	4050											
SP4	6671	broad.mit.edu	37	chr7	21468306	21468306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgttgcagatcagaagaagGaggaggaggaggaggcggca	13	5	19	4	1	1	3	1	0	0	3	1	8	1	8	0	7	1	3	0	7	2	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:21468306G>A	ENST00000222584.3	+	2	237	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	7	Poly-Glu.				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						TCAGAAGAAGGAGGAGGAGGA	0.512																																					p.E7K													SP4,colon,carcinoma,0,1	SP4	91	1	0			c.G19A												20	20	20					7																	21468306		2171	4251	6422	SO:0001583	missense	6671	exon2			AAGAAGGAGGAGG		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.19G>A	7.37:g.21468306G>A	ENSP00000222584:p.Glu7Lys		55	0.0181818182	1		39	0.13	5	NM_003112	0		0	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318989	0.41096	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	T	0.09911	2.93	4.5	4.5	0.54988	.	0.061123	0.64402	N	0.000005	T	0.10937	0.0267	L	0.36672	1.1	0.44142	D	0.996934	P	0.34587	0.458	B	0.39152	0.292	T	0.20907	-1.0261	10	0.23891	T	0.37	.	12.5742	0.56355	0.0:0.0:1.0:0.0	.	7	Q02446	SP4_HUMAN	K	7	ENSP00000222584:E7K	ENSP00000222584:E7K	E	+	1	0	SP4	21434831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.555000	0.73928	2.345000	0.79718	0.563000	0.77884	GAG			0.512	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211617.2		NM_003112		A	21468306	G	A	21468306	3	1	57	1	0	0	0	0	1	0	0	0	14989	1175	41	3	25	3	SP4	7	21468306	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10		21468306	137670357	28	4051											
GPNMB	10457	hgsc.bcm.edu;broad.mit.edu	37	chr7	23286485	23286486	+	Frame_Shift_Del	DEL	TC	TC	-																															tgagaattcagcatggaatgTctctactatttcctgggatt																								rs150499567	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	TC	TC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:23286485_23286486delTC	ENST00000381990.2	+	1	170_171	c.9_10delTC	c.(7-12)tgtctcfs	p.L4fs	GPNMB_ENST00000258733.4_Frame_Shift_Del_p.L4fs|GPNMB_ENST00000453162.2_Frame_Shift_Del_p.L4fs|GPNMB_ENST00000539136.1_Frame_Shift_Del_p.L4fs|GPNMB_ENST00000409458.3_Frame_Shift_Del_p.L4fs	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	4					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)			GCATGGAATGTCTCTACTATTT	0.48																																					p.3_3del													.	.			0			c.8_9del																																									SO:0001589	frameshift_variant	10457	exon1			GGAATGTCTCTAC	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.9_10delTC	7.37:g.23286487_23286488delTC	ENSP00000371420:p.Leu4fs		84	0	0		88	0.24	21	NM_002510	10	0	0	A4D155|Q6UVX1|Q8N1A1	Frame_Shift_Del	DEL	ENST00000381990.2	37	CCDS34610.1																																																																																					0.48	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000327152.1		NM_001005340		-	23286486	TC	-	23286485	7	5	57	1	0	1	0	1	0	0	0	0	6634	1673	58	0	11	0	GPNMB	7	23286485	Frame_Shift_Del	DEL	TC	TCGA-2G-AAKG-01A-11D-A42Y-10	1818179	23286485	135852178	29	4052											
C7orf51	222950	bcgsc.ca	37	chr7	100086782	100086782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcctgccagctggtccaCccctgggtgctggggagcca	4	8	14	15	0	0	0	0	0	0	0	2	1	2	1	6	4	4	2	6	4	0	0			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:100086782C>T	ENST00000300179.2	+	4	1597	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	NYAP1_ENST00000423930.1_Missense_Mutation_p.P480S|NYAP1_ENST00000454988.1_Missense_Mutation_p.P423S	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	480					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGCTGGTCCACCCCTGGGTGC	0.647																																					p.P480S													.	.			0			c.C1438T												35	38	37					7																	100086782		2203	4298	6501	SO:0001583	missense	222950	exon4			GGTCCACCCCTGG	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.1438C>T	7.37:g.100086782C>T	ENSP00000300179:p.Pro480Ser		54	0	0		84	0	0	NM_173564	3	0	0	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	5.881	0.346774	0.11126	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31769	1.48;1.48;1.48	4.56	2.67	0.31697	.	0.000000	0.45606	D	0.000345	T	0.12732	0.0309	N	0.14661	0.345	0.31707	N	0.640066	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.14448	-1.0472	10	0.11794	T	0.64	-15.7646	3.4868	0.07622	0.1735:0.5632:0.1683:0.095	.	423;480	C9JS30;Q6ZVC0	.;CG051_HUMAN	S	480;480;423	ENSP00000300179:P480S;ENSP00000411861:P480S;ENSP00000394424:P423S	ENSP00000300179:P480S	P	+	1	0	C7orf51	99924718	0.773000	0.28580	0.936000	0.37596	0.891000	0.51852	1.165000	0.31822	1.112000	0.41740	-0.314000	0.08810	CCC			0.647	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339335.2		NM_173564		T	100086782	C	T	100086782	3	4	57	1	0	0	0	0	1	0	0	0	2402	507	18	3	1448	3	C7orf51	7	100086782	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	76800297	100086782	59051881	30	4053											
WDR60	55112	hgsc.bcm.edu	37	chr7	158704304	158704304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatttactttctctctcttGgatctaccaccagtaaatga	10	16	4	11	0	4	1	1	1	3	0	6	2	4	2	2	1	2	1	2	1	4	6			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:158704304G>T	ENST00000407559.3	+	12	1682	c.1524G>T	c.(1522-1524)ttG>ttT	p.L508F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	508					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.L508F(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCTCTCTCTTGGATCTACCAC	0.318																																					p.L508F													.	.			1	Substitution - Missense(1)	lung(1)	c.G1524T												106	98	100					7																	158704304		1809	4082	5891	SO:0001583	missense	55112	exon12			TCTCTTGGATCTA		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1524G>T	7.37:g.158704304G>T	ENSP00000384290:p.Leu508Phe		132	0	0		114	0.04	5	NM_018051	4	0	0	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152301	0.57259	.	.	ENSG00000126870	ENST00000407559	D	0.85861	-2.04	5.03	4.14	0.48551	.	0.000000	0.64402	D	0.000003	T	0.78886	0.4354	L	0.33710	1.025	0.58432	D	0.999997	B	0.22414	0.069	B	0.22386	0.039	T	0.75866	-0.3166	10	0.87932	D	0	-7.4274	13.2306	0.59941	0.0:0.161:0.839:0.0	.	508	Q8WVS4	WDR60_HUMAN	F	508	ENSP00000384290:L508F	ENSP00000384290:L508F	L	+	3	2	WDR60	158397065	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.700000	0.54786	1.097000	0.41459	0.462000	0.41574	TTG			0.318	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322668.1		NM_018051		T	158704304	G	T	158704304	3	4	57	1	0	0	0	0	1	0	0	0	17335	1339	47	3	1570	3	WDR60	7	158704304	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	58617522	158704304	434359	31	4054											
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr8	77775665	77775665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtaggtgaaacacatgtcGatcctattcagttgcaggca	11	12	10	8	1	1	1	1	1	0	0	3	2	2	1	1	2	2	4	1	2	3	5			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr8:77775665G>A	ENST00000521891.2	+	11	10163	c.9715G>A	c.(9715-9717)Gat>Aat	p.D3239N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3194N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3213N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3190N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3190					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)			AACACATGTCGATCCTATTCA	0.448										HNSCC(33;0.089)																											p.D3239N													.	.			0			c.G9715A												160	153	155					8																	77775665		1888	4121	6009	SO:0001583	missense	79776	exon11			CATGTCGATCCTA		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.9715G>A	8.37:g.77775665G>A	ENSP00000430497:p.Asp3239Asn		93	0	0		109	0.26	28	NM_024721	0		0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657933	0.47467	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.62232	0.12;0.18;0.09;0.04	4.55	4.55	0.56014	.	0.000000	0.43416	U	0.000564	T	0.78117	0.4233	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.81035	-0.1115	10	0.72032	D	0.01	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	3194	Q86UP3-4	.	N	3239;3223;3194;3190;3213	ENSP00000430497:D3239N;ENSP00000399605:D3194N;ENSP00000050961:D3190N;ENSP00000430848:D3213N	ENSP00000050961:D3190N	D	+	1	0	ZFHX4	77938220	1.000000	0.71417	0.618000	0.29105	0.801000	0.45260	9.542000	0.98086	2.525000	0.85131	0.561000	0.74099	GAT			0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379197.2		NM_024721		A	77775665	G	A	77775665	3	1	57	1	0	0	0	0	1	0	0	0	17658	1058	37	1	9753	1	ZFHX4	8	77775665	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10		77775665	68588357	32	4055											
SCRIB	23513	bcgsc.ca	37	chr8	144893427	144893427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgagtgccacacagcccCcgatctcgggcggcagcgcc	6	4	13	18	5	1	1	0	1	1	0	2	2	1	1	4	2	3	2	4	2	0	0			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr8:144893427C>A	ENST00000320476.3	-	10	1001	c.995G>T	c.(994-996)gGg>gTg	p.G332V	SCRIB_ENST00000377533.3_Missense_Mutation_p.G251V|SCRIB_ENST00000356994.2_Missense_Mutation_p.G332V|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	332	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.G332V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACACAGCCCCCGATCTCGGG	0.667																																					p.G332V	Pancreas(51;966 1133 10533 14576 29674)												SCRIB,larynx,carcinoma,0,1	SCRIB	192	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G995T												30	24	26					8																	144893427		2198	4297	6495	SO:0001583	missense	23513	exon10			CAGCCCCCGATCT	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.995G>T	8.37:g.144893427C>A	ENSP00000322938:p.Gly332Val		71	0	0		140	0	0	NM_015356	66	0	0	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660274	0.47572	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.54071	2.14;0.59;1.79	3.14	3.14	0.36123	.	.	.	.	.	T	0.63616	0.2526	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.974;0.99	T	0.68123	-0.5492	9	0.87932	D	0	.	13.7309	0.62787	0.0:1.0:0.0:0.0	.	332;332	Q14160;Q14160-3	SCRIB_HUMAN;.	V	332;332;251	ENSP00000349486:G332V;ENSP00000322938:G332V;ENSP00000366756:G251V	ENSP00000322938:G332V	G	-	2	0	SCRIB	144965415	1.000000	0.71417	0.700000	0.30305	0.010000	0.07245	7.286000	0.78671	1.753000	0.51906	0.563000	0.77884	GGG			0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000382215.1		NM_015356		A	144893427	C	A	144893427	3	1	57	1	0	0	0	0	1	0	0	0	13960	623	22	3	4084	3	SCRIB	8	144893427	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	67117762	144893427	1470595	33	4056											
SMARCA2	6595	bcgsc.ca	37	chr9	2115838	2115838	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggatctgcaggcccaagAccgagctcaccgcatcgggc	10	4	12	15	3	2	1	1	0	1	1	3	3	2	2	3	3	2	3	3	3	1	0	rs281875240		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr9:2115838A>C	ENST00000382203.1	+	25	3682	c.3473A>C	c.(3472-3474)gAc>gCc	p.D1158A	SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1158A|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1158A|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1158A			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1158	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		D -> V (in NCBRS; dbSNP:rs281875240). {ECO:0000269|PubMed:22366787}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGGCCCAAGACCGAGCTCAC	0.572																																					p.D1158A													.	SMARCA2	313		0			c.A3473C												28	26	27					9																	2115838		2202	4300	6502	SO:0001583	missense	6595	exon25			CCCAAGACCGAGC	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3473A>C	9.37:g.2115838A>C	ENSP00000371638:p.Asp1158Ala		199	0	0		229	0	0	NM_139045	27	0	0	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775964	0.70107	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.67	5.67	0.87782	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	N	0.26042	0.785	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.87578	0.985;0.996;0.998	T	0.81976	-0.0686	10	0.66056	D	0.02	-36.9631	15.9124	0.79482	1.0:0.0:0.0:0.0	.	759;1158;1158	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	A	1158	ENSP00000265773:D1158A;ENSP00000349788:D1158A;ENSP00000371638:D1158A;ENSP00000371629:D1158A	ENSP00000265773:D1158A	D	+	2	0	SMARCA2	2105838	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.164000	0.68074	0.460000	0.39030	GAC			0.572	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000051505.1		NM_003070		C	2115838	A	C	2115838	3	2	57	1	0	0	0	0	1	0	0	0	14792	275	10	4	3567	4	SMARCA2	9	2115838	Missense_Mutation	SNP	A	TCGA-2G-AAKG-01A-11D-A42Y-10		2115838	139097593	34	4057											
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaatttaatcgtggaCgaggactaaatgtgggtgcc	13	10	13	5	2	0	2	0	1	0	1	1	5	0	4	1	3	1	0	1	3	5	3	rs76607193	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					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)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																					p.R347X													CSGALNACT2,trunk,malignant_melanoma,0,1	CSGALNACT2	0	1	1	Substitution - Nonsense(1)	skin(1)	c.C1039T												191	181	184					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454	exon5			CGTGGACGAGGAC	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.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*		101	0	0		81	0.05	4	NM_018590	9	0	0	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA	0.003		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047693.1		NM_018590		T	43659372	C	T	43659372	4	4	57	1	0	0	0	0	0	1	0	0	3941	528	19	1	1053	1	CSGALNACT2	10	43659372	Nonsense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10		43659372	91875375	35	4058											
FAM21B	387680	broad.mit.edu	37	chr10	47948782	47948782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgatctgcacaggccgcaCctgaaccaagatttgaacac	12	6	9	14	2	1	3	0	2	1	1	1	4	1	3	4	1	3	2	4	1	3	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr10:47948782C>T	ENST00000358474.5	+	29	3691	c.3691C>T	c.(3691-3693)Cct>Tct	p.P1231S		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		1231					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACAGGCCGCACCTGAACCAAG	0.468																																					p.P1231S													.	FAM21B	31		0			c.C3691T												7	10	9					10																	47948782		542	2425	2967	SO:0001583	missense	55747	exon29			GCCGCACCTGAAC																												ENST00000358474.5:c.3691C>T	10.37:g.47948782C>T	ENSP00000351259:p.Pro1231Ser		659	0	0		433	0.31	133	NM_018232	59	0.42	25		Missense_Mutation	SNP	ENST00000358474.5	37	CCDS44379.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.853109	0.00563	.	.	ENSG00000152726	ENST00000358474;ENST00000543972;ENST00000355876	.	.	.	2.6	-1.04	0.10068	.	0.590250	0.18358	N	0.143656	T	0.11537	0.0281	N	0.11064	0.09	0.09310	N	1	B;B;B	0.20671	0.026;0.047;0.015	B;B;B	0.16289	0.015;0.015;0.015	T	0.23691	-1.0181	9	0.05959	T	0.93	-2.3271	1.7089	0.02888	0.1925:0.2869:0.3814:0.1392	.	1231;286;1298	Q5SNT6;Q5SRD0;B7ZME8	FA21B_HUMAN;FA21D_HUMAN;.	S	1231;488;1201	.	ENSP00000348138:P1201S	P	+	1	0	FAM21B	47468788	0.771000	0.28555	0.035000	0.18076	0.165000	0.22458	1.115000	0.31209	-0.597000	0.05813	0.152000	0.16155	CCT			0.468	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047871.2				T	47948782	C	T	47948782	3	4	57	1	0	0	0	0	1	0	0	0	5551	507	18	3	3805	3	FAM21B	10	47948782	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	4289410	47948782	87585965	36	4059											
PTDSS2	81490	hgsc.bcm.edu;broad.mit.edu	37	chr11	488541	488541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagtggatcatggacGtgctcgtctgcaacgggctg	6	9	14	12	3	2	0	1	0	1	0	3	2	2	2	1	3	4	4	1	3	1	0	rs34809643	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:488541G>T	ENST00000308020.5	+	8	924	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	250					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)	GATCATGGACGTGCTCGTCTG	0.627																																					p.V250L													.	.			0			c.G748T												100	85	90					11																	488541		2203	4300	6503	SO:0001583	missense	81490	exon8			ATGGACGTGCTCG	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.748G>T	11.37:g.488541G>T	ENSP00000308258:p.Val250Leu		46	0	0		66	0.06	4	NM_030783	88	0	0		Missense_Mutation	SNP	ENST00000308020.5	37	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668827	0.88348	.	.	ENSG00000174915	ENST00000308020	.	.	.	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.69637	0.3133	L	0.58510	1.815	0.80722	D	1	P	0.50943	0.94	P	0.51999	0.687	T	0.72743	-0.4201	9	0.52906	T	0.07	-21.6279	17.7506	0.88432	0.0:0.0:1.0:0.0	.	250	Q9BVG9	PTSS2_HUMAN	L	250	.	ENSP00000308258:V250L	V	+	1	0	PTDSS2	478541	1.000000	0.71417	0.959000	0.39883	0.564000	0.35744	9.400000	0.97290	2.519000	0.84933	0.462000	0.41574	GTG			0.627	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239301.2				T	488541	G	T	488541	3	4	57	1	0	0	0	0	1	0	0	0	12757	1145	40	1	778	1	PTDSS2	11	488541	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10		488541	134517975	37	4060											
MUC6	4588	bcgsc.ca	37	chr11	1016801	1016801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgggaagtgtggtctgaggGtgtgatggggttggataggt	6	12	22	1	0	1	2	0	2	1	0	1	4	1	4	0	7	0	1	0	7	2	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:1016801G>C	ENST00000421673.2	-	31	6050	c.6000C>G	c.(5998-6000)caC>caG	p.H2000Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2000	Thr-rich.				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)		TGGTCTGAGGGTGTGATGGGG	0.542																																					p.H2000Q													.	MUC6	408		0			c.C6000G												1371	1357	1362					11																	1016801		2203	4297	6500	SO:0001583	missense	4588	exon31			CTGAGGGTGTGAT	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.6000C>G	11.37:g.1016801G>C	ENSP00000406861:p.His2000Gln		386	0.0155440415	6		322	0.03	11	NM_005961	1	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524518	0.13066	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.76	-5.51	0.02568	.	.	.	.	.	T	0.10337	0.0253	L	0.50333	1.59	0.09310	N	1	B	0.27625	0.183	B	0.21708	0.036	T	0.29610	-1.0006	9	0.27082	T	0.32	.	1.062	0.01603	0.2629:0.2888:0.3017:0.1467	.	2000	Q6W4X9	MUC6_HUMAN	Q	2000	ENSP00000406861:H2000Q	ENSP00000406861:H2000Q	H	-	3	2	MUC6	1006801	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.904000	0.04080	-1.588000	0.01627	0.306000	0.20318	CAC			0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		C	1016801	G	C	1016801	3	2	57	1	0	0	0	0	1	0	0	0	9996	1252	44	5	1331	5	MUC6	11	1016801	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	528260	1016801	133989715	38	4061											
ASRGL1	80150	broad.mit.edu	37	chr11	62105556	62105556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccgccaccgtgggctacgGcatcctccgggagggcggga	6	4	17	14	5	0	0	0	0	0	0	2	2	2	2	5	5	2	2	5	5	1	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:62105556G>A	ENST00000415229.2	+	2	322	c.107G>A	c.(106-108)gGc>gAc	p.G36D	ASRGL1_ENST00000535727.1_5'UTR|RP11-703H8.7_ENST00000400902.4_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.G36D	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	36					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)	GTGGGCTACGGCATCCTCCGG	0.657																																					p.G36D													.	ASRGL1	25		0			c.G107A												31	30	30					11																	62105556		2202	4297	6499	SO:0001583	missense	80150	exon2			GCTACGGCATCCT		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.107G>A	11.37:g.62105556G>A	ENSP00000400057:p.Gly36Asp		52	0	0		73	0.05	4	NM_001083926	142	0	0	B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	g	6.368	0.435924	0.12104	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.86497	-2.13;-2.13	4.36	-0.712	0.11226	.	1.561570	0.03313	N	0.190726	T	0.68081	0.2962	N	0.02960	-0.455	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.60094	-0.7330	10	0.15066	T	0.55	-1.3504	3.9942	0.09551	0.468:0.1922:0.3399:0.0	.	36	Q7L266	ASGL1_HUMAN	D	36	ENSP00000400057:G36D;ENSP00000301776:G36D	ENSP00000301776:G36D	G	+	2	0	ASRGL1	61862132	0.000000	0.05858	0.534000	0.28014	0.028000	0.11728	-0.452000	0.06787	-0.036000	0.13669	-0.378000	0.06908	GGC			0.657	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394865.1		NM_001083926		A	62105556	G	A	62105556	3	1	57	1	0	0	0	0	1	0	0	0	1060	1203	42	2	109	2	ASRGL1	11	62105556	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	61088755	62105556	72900960	39	4062											
MTA2	9219	bcgsc.ca	37	chr11	62365527	62365527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgatctgggatctcagcttgGtatttgcaaccaactctaat	10	13	8	10	1	3	0	1	0	3	0	4	2	3	1	1	2	4	3	1	2	4	4			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:62365527G>A	ENST00000278823.2	-	6	848	c.459C>T	c.(457-459)taC>taT	p.Y153Y	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	153	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCTCAGCTTGGTATTTGCAAC	0.478																																					p.Y153Y													.	MTA2	54		0			c.C459T												160	154	157					11																	62365527		2202	4299	6501	SO:0001819	synonymous_variant	9219	exon6			AGCTTGGTATTTG	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.459C>T	11.37:g.62365527G>A			128	0	0		117	0	0	NM_004739	31	0	0	Q68DB1|Q9UQB5	Silent	SNP	ENST00000278823.2	37	CCDS8022.1																																																																																					0.478	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395578.1		NM_004739		A	62365527	G	A	62365527	2	1	57	1	0	0	0	0	0	0	0	1	9925	1256	44	3		3	MTA2	11	62365527	Silent	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	259971	62365527	72640989	40	4063											
MAP4K2	5871	bcgsc.ca	37	chr11	64566925	64566925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcagtttccttcctgcGtggggcgccaaatttcacct	5	13	11	12	2	2	0	2	0	0	0	4	0	4	0	4	3	1	1	4	3	1	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:64566925G>C	ENST00000294066.2	-	14	1112	c.1021C>G	c.(1021-1023)Cgc>Ggc	p.R341G	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R341G|MAP4K2_ENST00000468062.1_5'Flank	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	341					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TCCTTCCTGCGTGGGGCGCCA	0.602																																					p.R341G													.	MAP4K2	83		0			c.C1021G												84	78	80					11																	64566925		2201	4297	6498	SO:0001583	missense	5871	exon14			TCCTGCGTGGGGC	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1021C>G	11.37:g.64566925G>C	ENSP00000294066:p.Arg341Gly		109	0	0		107	0	0	NM_004579	29	0	0	Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209116	0.58343	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	T;T;T	0.13538	2.58;2.58;2.58	5.14	4.18	0.49190	.	0.576714	0.14525	N	0.314219	T	0.13798	0.0334	N	0.14661	0.345	0.34766	D	0.733267	D;D	0.59357	0.985;0.985	P;P	0.54759	0.677;0.76	T	0.10177	-1.0641	10	0.19147	T	0.46	.	11.6092	0.51049	0.0:0.0:0.8226:0.1774	.	341;341	Q86VU3;Q12851	.;M4K2_HUMAN	G	341;341;297	ENSP00000294066:R341G;ENSP00000366567:R341G;ENSP00000403563:R297G	ENSP00000294066:R341G	R	-	1	0	MAP4K2	64323501	0.989000	0.36119	0.994000	0.49952	0.971000	0.66376	2.103000	0.41806	2.582000	0.87167	0.558000	0.71614	CGC			0.602	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000105239.1		NM_004579		C	64566925	G	C	64566925	3	2	57	1	0	0	0	0	1	0	0	0	9276	1145	40	5	1517	5	MAP4K2	11	64566925	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	2201398	64566925	70439591	41	4064											
PPP1CA	5499	broad.mit.edu	37	chr11	67168607	67168607	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatctcccgggatttcAggcacagaccgcggatctcg	11	7	11	12	4	3	1	1	0	2	1	5	4	3	3	2	3	0	1	2	3	2	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:67168607A>G	ENST00000376745.4	-	2	267	c.119T>C	c.(118-120)cTg>cCg	p.L40P	PPP1CA_ENST00000532446.1_5'UTR|TBC1D10C_ENST00000526387.1_5'Flank|PPP1CA_ENST00000312989.7_Missense_Mutation_p.L51P|TBC1D10C_ENST00000312390.5_5'Flank|PPP1CA_ENST00000358239.4_Intron	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	40					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCGGGATTTCAGGCACAGACC	0.627																																					p.L51P													.	PPP1CA	83		0			c.T152C												63	71	68					11																	67168607		2200	4295	6495	SO:0001583	missense	5499	exon2			GATTTCAGGCACA		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.119T>C	11.37:g.67168607A>G	ENSP00000365936:p.Leu40Pro		85	0	0		84	0.05	4	NM_001008709	456	0	0	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515976	0.44763	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000527663;ENST00000546202;ENST00000542876	T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36	4.93	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000001	T	0.19525	0.0469	M	0.94021	3.485	0.80722	D	1	P;P;B;P;P	0.47302	0.893;0.893;0.452;0.678;0.667	B;B;B;B;B	0.43889	0.435;0.435;0.338;0.338;0.368	T	0.18272	-1.0342	10	0.72032	D	0.01	.	13.8889	0.63726	1.0:0.0:0.0:0.0	.	137;137;40;51;49	B3KXM2;E9PDP1;P62136;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.	P	51;137;40;40;125;137	ENSP00000326031:L51P;ENSP00000365936:L40P;ENSP00000431146:L40P;ENSP00000439568:L125P;ENSP00000438409:L137P	ENSP00000326031:L51P	L	-	2	0	PPP1CA	66925183	1.000000	0.71417	0.729000	0.30791	0.019000	0.09904	9.205000	0.95048	1.985000	0.57927	0.460000	0.39030	CTG			0.627	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395487.1		NM_002708		G	67168607	A	G	67168607	3	3	57	1	0	0	0	0	1	0	0	0	12369	188	7	4	897	4	PPP1CA	11	67168607	Missense_Mutation	SNP	A	TCGA-2G-AAKG-01A-11D-A42Y-10	2601682	67168607	67837909	42	4065											
TAS2R8	50836	bcgsc.ca	37	chr12	10959286	10959286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acattaaggcaggtggtaatCcacatatttaagtagttggc	13	12	10	6	0	0	0	0	0	0	0	1	0	1	0	1	4	0	4	1	4	5	7			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:10959286C>G	ENST00000240615.2	-	1	606	c.294G>C	c.(292-294)tgG>tgC	p.W98C		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	98					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)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGTGGTAATCCACATATTTA	0.363																																					p.W98C													.	TAS2R8	42		0			c.G294C												93	92	92					12																	10959286		2203	4300	6503	SO:0001583	missense	50836	exon1			GGTAATCCACATA	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.294G>C	12.37:g.10959286C>G	ENSP00000240615:p.Trp98Cys		96	0	0		180	0	0	NM_023918	0		0	Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517577	0.13005	.	.	ENSG00000121314	ENST00000240615	T	0.07216	3.21	4.79	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000027	T	0.22126	0.0533	M	0.76838	2.35	0.09310	N	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.04509	-1.0946	10	0.87932	D	0	.	4.0015	0.09582	0.2099:0.5603:0.1407:0.0891	.	98	Q9NYW2	TA2R8_HUMAN	C	98	ENSP00000240615:W98C	ENSP00000240615:W98C	W	-	3	0	TAS2R8	10850553	0.002000	0.14202	0.001000	0.08648	0.014000	0.08584	0.901000	0.28445	0.266000	0.21894	0.563000	0.77884	TGG			0.363	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399932.1				G	10959286	C	G	10959286	3	3	57	1	0	0	0	0	1	0	0	0	15610	856	30	5	638	5	TAS2R8	12	10959286	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10		10959286	122892609	43	4066											
ABCC9	10060	bcgsc.ca	37	chr12	22061069	22061069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagtactgaattggcgcaAggagcacaatgacagctgca	15	7	11	8	1	0	2	0	2	0	0	0	3	0	3	0	2	4	5	0	2	6	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:22061069A>G	ENST00000261201.4	-	9	1396	c.1397T>C	c.(1396-1398)cTt>cCt	p.L466P	ABCC9_ENST00000345162.2_Missense_Mutation_p.L466P|ABCC9_ENST00000261200.4_Missense_Mutation_p.L466P	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	466	ABC transmembrane type-1 1. {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)	AATTGGCGCAAGGAGCACAAT	0.378																																					p.L466P													.	ABCC9	411		0			c.T1397C												73	63	66					12																	22061069		2203	4299	6502	SO:0001583	missense	10060	exon9			GGCGCAAGGAGCA	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.1397T>C	12.37:g.22061069A>G	ENSP00000261201:p.Leu466Pro		303	0.00330033	1		404	0	0	NM_005691	1	0	0	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326391	0.81690	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	M	0.93106	3.38	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.70227	0.968;0.726	D	0.97764	1.0222	10	0.87932	D	0	-13.9217	15.4016	0.74845	1.0:0.0:0.0:0.0	.	466;466	O60706;O60706-2	ABCC9_HUMAN;.	P	466;129;466;466	ENSP00000261200:L466P;ENSP00000440521:L129P;ENSP00000261201:L466P;ENSP00000261202:L466P	ENSP00000261200:L466P	L	-	2	0	ABCC9	21952336	1.000000	0.71417	0.748000	0.31131	0.990000	0.78478	9.005000	0.93587	2.222000	0.72286	0.533000	0.62120	CTT			0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000402230.1		NM_005691		G	22061069	A	G	22061069	3	3	57	1	0	0	0	0	1	0	0	0	59	72	3	4	3514	4	ABCC9	12	22061069	Missense_Mutation	SNP	A	TCGA-2G-AAKG-01A-11D-A42Y-10	11101783	22061069	111790826	44	4067											
FAM101A	144347	broad.mit.edu	37	chr12	124798964	124798964	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagcactttccggaccAccctgcactgcagcctgggc	7	6	11	17	1	0	0	0	0	0	0	1	2	1	2	5	3	4	3	5	3	0	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:124798964A>C	ENST00000389727.3	+	3	544	c.544A>C	c.(544-546)Acc>Ccc	p.T182P	FAM101A_ENST00000338359.4_Missense_Mutation_p.T101P|FAM101A_ENST00000324038.3_Missense_Mutation_p.T101P|FAM101A_ENST00000546355.1_Missense_Mutation_p.T101P			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	182										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		TTTCCGGACCACCCTGCACTG	0.706																																					p.T101P													.	FAM101A	10		0			c.A301C												50	50	50					12																	124798964		2203	4298	6501	SO:0001583	missense	144347	exon3			CGGACCACCCTGC		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.544A>C	12.37:g.124798964A>C	ENSP00000374377:p.Thr182Pro		29	0.1034482759	3		52	0.25	13	NM_181709	11	0	0	A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37		.	.	.	.	.	.	.	.	.	.	A	20.8	4.057866	0.76074	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81986	-0.0681	9	0.72032	D	0.01	-14.0302	14.1628	0.65457	1.0:0.0:0.0:0.0	.	182	Q6ZTI6	F101A_HUMAN	P	101;182;101;101	.	ENSP00000315626:T101P	T	+	1	0	FAM101A	123364917	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	8.744000	0.91596	1.748000	0.51833	0.459000	0.35465	ACC			0.706	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_181709		C	124798964	A	C	124798964	3	2	57	1	0	0	0	0	1	0	0	0	5390	159	6	4	307	4	FAM101A	12	124798964	Missense_Mutation	SNP	A	TCGA-2G-AAKG-01A-11D-A42Y-10	102737895	124798964	9052931	45	4068											
L2HGDH	79944	bcgsc.ca	37	chr14	50713845	50713847	+	In_Frame_Del	DEL	AGG	AGG	-																															gcaatggaagaagtagcagcAggagaaggtgcatttctcac																								rs200555267		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AGG	AGG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:50713845_50713847delAGG	ENST00000267436.4	-	10	1718_1720	c.1321_1323delCCT	c.(1321-1323)cctdel	p.P441del	L2HGDH_ENST00000261699.4_Intron|L2HGDH_ENST00000421284.3_In_Frame_Del_p.P441del			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	441					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					AAGTAGCAGCAGGAGAAGGTGCA	0.384																																					p.441_441del													.	L2HGDH	33		0			c.1321_1323del																																									SO:0001651	inframe_deletion	79944	exon10			AGCAGCAGGAGAA		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.1321_1323delCCT	14.37:g.50713845_50713847delAGG	ENSP00000267436:p.Pro441del		228	0	0		164	0	0	NM_024884	9	0	0	Q9BRR1	In_Frame_Del	DEL	ENST00000267436.4	37	CCDS9698.1																																																																																					0.384	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276870.2		NM_024884		-	50713847	AGG	-	50713845	7	5	57	1	0	1	0	1	0	0	0	0	8605	175	7	0	72	0	L2HGDH	14	50713845	In_Frame_Del	DEL	AGG	TCGA-2G-AAKG-01A-11D-A42Y-10		50713845	56635695	46	4069											
SERPINA10	51156	bcgsc.ca	37	chr14	94756510	94756510	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccttaaagagggaaggcaGgagcccgggcttggtgggct	8	7	17	9	1	0	1	0	0	0	1	1	3	1	3	2	6	1	3	2	6	3	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:94756510G>A	ENST00000393096.1	-	2	886	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	SERPINA10_ENST00000261994.4_Silent_p.L141L|SERPINA10_ENST00000554723.1_Silent_p.L181L|SERPINA10_ENST00000554173.1_Silent_p.L141L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	141	Heparin-binding.				blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGGGAAGGCAGGAGCCCGGGC	0.592																																					p.L141L													.	SERPINA10	83		0			c.C421T												49	55	53					14																	94756510		2203	4300	6503	SO:0001819	synonymous_variant	51156	exon2			AAGGCAGGAGCCC	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.421C>T	14.37:g.94756510G>A			135	0	0		145	0	0	NM_001100607	1	0	0	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	CCDS9923.1																																																																																					0.592	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413061.1		NM_016186		A	94756510	G	A	94756510	2	1	57	1	0	0	0	0	0	0	0	1	14110	991	35	3		3	SERPINA10	14	94756510	Silent	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	44042665	94756510	12593030	47	4070											
KIAA0284	283638	hgsc.bcm.edu;broad.mit.edu	37	chr14	105352457	105352457	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgacagctactcagacccGggcctcacaggtaagtggct	9	7	12	13	1	2	2	2	1	0	1	2	2	2	2	2	3	2	4	2	3	2	2	rs372643760		TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:105352457G>A	ENST00000414716.3	+	11	2253	c.2025G>A	c.(2023-2025)ccG>ccA	p.P675P	CEP170B_ENST00000418279.1_Silent_p.P605P|CEP170B_ENST00000453495.1_Silent_p.P676P|CEP170B_ENST00000556508.1_Silent_p.P605P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	675						cytoplasm (GO:0005737)|microtubule (GO:0005874)											ACTCAGACCCGGGCCTCACAG	0.711																																					p.P675P													.	.			0			c.G2025A							G	,	1,3679		0,1,1839	15	21	19		2025,1815	-9	0	14		19	0,7900		0,0,3950	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	0,1,5789	AA,AG,GG		0.0,0.0272,0.0086	,	675/1555,605/1520	105352457	1,11579	1840	3950	5790	SO:0001819	synonymous_variant	283638	exon11			AGACCCGGGCCTC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2025G>A	14.37:g.105352457G>A			21	0	0		34	0.15	5	NM_001112726	0		0	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																					0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000410289.2		NM_001112726		A	105352457	G	A	105352457	2	1	57	1	0	0	0	0	0	0	0	1	8181	1103	39	1		1	KIAA0284	14	105352457	Silent	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	10595947	105352457	1997083	48	4071											
AHNAK2	113146	bcgsc.ca	37	chr14	105416870	105416870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggacaggtccccctccaGctgcgcaccatccagctttg	7	7	10	17	1	0	0	0	0	0	0	3	1	3	1	5	2	3	3	5	2	0	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:105416870G>T	ENST00000333244.5	-	7	5037	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1640						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)			TCCCCCTCCAGCTGCGCACCA	0.602																																					p.L1640M													AHNAK2_ENST00000333244,NS,carcinoma,+2,1	AHNAK2	719	1	0			c.C4918A												150	169	163					14																	105416870		1919	4080	5999	SO:0001583	missense	113146	exon7			CCTCCAGCTGCGC	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.4918C>A	14.37:g.105416870G>T	ENSP00000353114:p.Leu1640Met		172	0	0		230	0	0	NM_138420	0		0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.721908	0.30503	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	3.43	-6.86	0.01676	.	.	.	.	.	T	0.02767	0.0083	M	0.66506	2.035	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.02837	-1.1104	9	0.52906	T	0.07	.	6.0697	0.19883	0.0984:0.5504:0.2407:0.1105	.	1640	Q8IVF2	AHNK2_HUMAN	M	1640	ENSP00000353114:L1640M	ENSP00000353114:L1640M	L	-	1	2	AHNAK2	104487915	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	-0.319000	0.08039	-0.941000	0.03700	0.306000	0.20318	CTG			0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420		T	105416870	G	T	105416870	3	4	57	1	0	0	0	0	1	0	0	0	415	962	34	2	12473	2	AHNAK2	14	105416870	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	64413	105416870	1932670	49	4072											
DISP2	85455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr15	40656718	40656718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggactgttgggggcccgGctgcccgacttctccaagcc	4	8	14	15	2	1	0	0	0	1	0	2	2	1	1	4	4	2	3	4	4	1	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:40656718G>A	ENST00000267889.3	+	4	663	c.576G>A	c.(574-576)cgG>cgA	p.R192R		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	192					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGGGGCCCGGCTGCCCGACT	0.637																																					p.R192R													.	.			0			c.G576A												59	62	61					15																	40656718		2203	4300	6503	SO:0001819	synonymous_variant	85455	exon4			GGCCCGGCTGCCC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.576G>A	15.37:g.40656718G>A			54	0	0		73	0.48	35	NM_033510	1	1	1	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																					0.637	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252249.1		NM_033510		A	40656718	G	A	40656718	2	1	57	1	0	0	0	0	0	0	0	1	4545	1190	42	2		2	DISP2	15	40656718	Silent	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10		40656718	61874674	50	4073											
EIF3J	8669	hgsc.bcm.edu	37	chr15	44829418	44829418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggGggactcggactcctggggtg	2	4	24	11	7	0	0	0	0	0	0	2	2	1	2	1	11	0	0	1	11	0	0			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:44829418G>C	ENST00000535391.1	+	1	38	c.26G>C	c.(25-27)gGg>gCg	p.G9A	EIF3J_ENST00000261868.5_Missense_Mutation_p.G9A|EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000424492.3_Missense_Mutation_p.G9A					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		gcggcggcggGGGACTCGGAC	0.706																																					p.G9A													.	.			0			c.G26C												6	8	7					15																	44829418		2005	4074	6079	SO:0001583	missense	8669	exon1			CGGCGGGGGACTC	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.26G>C	15.37:g.44829418G>C	ENSP00000440221:p.Gly9Ala		197	0	0		396	0.19	76	NM_003758	2	0	0		Missense_Mutation	SNP	ENST00000535391.1	37		.	.	.	.	.	.	.	.	.	.	G	0.026	-1.373523	0.01214	.	.	ENSG00000104131	ENST00000261868;ENST00000535391;ENST00000424492	T;T	0.41065	1.12;1.01	4.36	3.43	0.39272	.	0.161948	0.37577	N	0.002034	T	0.16385	0.0394	N	0.08118	0	0.24101	N	0.995874	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.001;0.002;0.003	T	0.29912	-0.9996	10	0.02654	T	1	.	6.198	0.20559	0.1014:0.1922:0.7064:0.0	.	9;9;9	B4DUI3;F5H425;O75822	.;.;EIF3J_HUMAN	A	9	ENSP00000261868:G9A;ENSP00000414548:G9A	ENSP00000261868:G9A	G	+	2	0	EIF3J	42616710	1.000000	0.71417	0.999000	0.59377	0.002000	0.02628	2.612000	0.46343	1.180000	0.42898	-0.188000	0.12872	GGG			0.706	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000396804.1		NM_003758		C	44829418	G	C	44829418	3	2	57	1	0	0	0	0	1	0	0	0	5027	1232	43	5	28	5	EIF3J	15	44829418	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	4172700	44829418	57701974	51	4074											
MYEF2	50804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr15	48450208	48450208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtggtaattgtggtgtttTaccatcatgtgaacggtact	9	15	11	6	2	1	1	1	1	0	0	1	1	1	1	1	3	3	3	1	3	4	5			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:48450208T>C	ENST00000324324.7	-	9	1246	c.967A>G	c.(967-969)Aaa>Gaa	p.K323E	MYEF2_ENST00000267836.6_Missense_Mutation_p.K323E|MYEF2_ENST00000557868.1_5'UTR	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	323					myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGTGGTGTTTTACCATCATGT	0.323																																					p.K323E													.	.			0			c.A967G												151	139	143					15																	48450208		2198	4297	6495	SO:0001583	missense	50804	exon9			GTGTTTTACCATC	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"RNA binding motif (RRM) containing"	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.967A>G	15.37:g.48450208T>C	ENSP00000316950:p.Lys323Glu		176	0	0		129	0.22	28	NM_016132	1	0	0	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	t	28.6	4.935391	0.92458	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.21543	2.61;2.0	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.59436	1.845	0.80722	D	1	D;D	0.59357	0.981;0.985	P;P	0.57911	0.829;0.767	T	0.04140	-1.0974	10	0.33940	T	0.23	-13.2293	15.9509	0.79835	0.0:0.0:0.0:1.0	.	323;323	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	E	323	ENSP00000316950:K323E;ENSP00000267836:K323E	ENSP00000267836:K323E	K	-	1	0	MYEF2	46237500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.168000	0.68352	0.478000	0.44815	AAA			0.323	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000416909.2		NM_016132		C	48450208	T	C	48450208	3	2	57	1	0	0	0	0	1	0	0	0	10040	1763	61	4	871	4	MYEF2	15	48450208	Missense_Mutation	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10	3620790	48450208	54081184	52	4075											
USP8	9101	hgsc.bcm.edu	37	chr15	50782530	50782530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgttcatatgtacccacCggaaatggctccttcatctg	9	12	7	13	1	3	0	2	0	1	0	4	1	4	1	3	2	1	3	3	2	3	4			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:50782530C>T	ENST00000396444.3	+	14	2380	c.2042C>T	c.(2041-2043)cCg>cTg	p.P681L	USP8_ENST00000425032.3_Missense_Mutation_p.P575L|USP8_ENST00000307179.4_Missense_Mutation_p.P681L|USP8_ENST00000433963.1_Missense_Mutation_p.P681L	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	681					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATGTACCCACCGGAAATGGCT	0.453																																					p.P681L													.	.			0			c.C2042T												149	140	143					15																	50782530		2196	4294	6490	SO:0001583	missense	9101	exon14			ACCCACCGGAAAT	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2042C>T	15.37:g.50782530C>T	ENSP00000379721:p.Pro681Leu		172	0	0		154	0.05	7	NM_001128610	18	0	0	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355300	0.95854	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19938	2.11;2.11;2.11;2.16	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.858	T	0.06770	-1.0808	10	0.54805	T	0.06	-10.3157	19.9929	0.97374	0.0:1.0:0.0:0.0	.	575;681	B4DKA8;P40818	.;UBP8_HUMAN	L	681;681;681;575	ENSP00000379721:P681L;ENSP00000405537:P681L;ENSP00000302239:P681L;ENSP00000412682:P575L	ENSP00000302239:P681L	P	+	2	0	USP8	48569822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.249000	0.78278	2.794000	0.96219	0.655000	0.94253	CCG			0.453	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254541.1		NM_005154		T	50782530	C	T	50782530	3	4	57	1	0	0	0	0	1	0	0	0	17113	652	23	1	2092	1	USP8	15	50782530	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	2332322	50782530	51748862	53	4076											
ZNF592	9640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr15	85326876	85326876	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttctaaaggtagccccAaaatgcccaagtcaccaaag	16	6	8	11	0	2	1	1	0	1	1	2	1	2	1	4	1	2	2	4	1	7	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:85326876A>C	ENST00000560079.2	+	4	1258	c.970A>C	c.(970-972)Aaa>Caa	p.K324Q	ZNF592_ENST00000299927.3_Missense_Mutation_p.K324Q	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	324					cell death (GO:0008219)|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(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGTAGCCCCAAAATGCCCAA	0.537																																					p.K324Q													.	.			0			c.A970C												73	84	80					15																	85326876		2203	4299	6502	SO:0001583	missense	9640	exon4			AGCCCCAAAATGC	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.970A>C	15.37:g.85326876A>C	ENSP00000452877:p.Lys324Gln		146	0	0		117	0.21	25	NM_014630	12	0.17	2	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058139	0.55325	.	.	ENSG00000166716	ENST00000299927	T	0.00635	6.06	5.65	4.54	0.55810	.	0.230123	0.52532	D	0.000072	T	0.01454	0.0047	L	0.29908	0.895	0.40134	D	0.97675	D	0.76494	0.999	D	0.68943	0.961	T	0.73161	-0.4070	10	0.54805	T	0.06	-10.0498	9.1268	0.36821	0.9148:0.0:0.0852:0.0	.	324	Q92610	ZN592_HUMAN	Q	324	ENSP00000299927:K324Q	ENSP00000299927:K324Q	K	+	1	0	ZNF592	83127880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.008000	0.63991	2.152000	0.67230	0.533000	0.62120	AAA			0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418779.2		NM_014630		C	85326876	A	C	85326876	3	2	57	1	0	0	0	0	1	0	0	0	18045	131	5	4	972	4	ZNF592	15	85326876	Missense_Mutation	SNP	A	TCGA-2G-AAKG-01A-11D-A42Y-10	34544346	85326876	17204516	54	4077											
ZNF592	9640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr15	85327404	85327404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcccctgccaacctcctgCccaaagccgtgcacttggcc	6	7	9	19	1	0	0	0	0	0	0	1	0	1	0	8	2	5	1	8	2	2	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:85327404C>A	ENST00000560079.2	+	4	1786	c.1498C>A	c.(1498-1500)Ccc>Acc	p.P500T	ZNF592_ENST00000299927.3_Missense_Mutation_p.P500T	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	500					cell death (GO:0008219)|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(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAACCTCCTGCCCAAAGCCGT	0.627																																					p.P500T													.	.			0			c.C1498A												58	43	48					15																	85327404		2203	4299	6502	SO:0001583	missense	9640	exon4			CTCCTGCCCAAAG	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1498C>A	15.37:g.85327404C>A	ENSP00000452877:p.Pro500Thr		68	0	0		69	0.17	12	NM_014630	25	0.52	13	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858985	0.51376	.	.	ENSG00000166716	ENST00000299927	T	0.01145	5.27	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.03220	0.0094	N	0.19112	0.55	0.51233	D	0.999919	D	0.89917	1.0	D	0.81914	0.995	T	0.65721	-0.6099	10	0.59425	D	0.04	-24.6572	16.5914	0.84766	0.0:1.0:0.0:0.0	.	500	Q92610	ZN592_HUMAN	T	500	ENSP00000299927:P500T	ENSP00000299927:P500T	P	+	1	0	ZNF592	83128408	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.346000	0.79347	2.495000	0.84180	0.655000	0.94253	CCC			0.627	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418779.2		NM_014630		A	85327404	C	A	85327404	3	1	57	1	0	0	0	0	1	0	0	0	18045	739	26	2	1500	2	ZNF592	15	85327404	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	528	85327404	17203988	55	4078											
NMRAL1	57407	bcgsc.ca	37	chr16	4519318	4519318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagggccagctccatgatGacctggtcatcttggtctcc	6	12	10	13	0	4	2	2	2	2	0	6	2	5	2	4	3	1	1	4	3	0	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:4519318G>A	ENST00000574733.1	-	3	918	c.189C>T	c.(187-189)gtC>gtT	p.V63V	NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000404295.3_Silent_p.V63V|NMRAL1_ENST00000574425.1_Silent_p.V63V|NMRAL1_ENST00000283429.6_Silent_p.V63V			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	63						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GCTCCATGATGACCTGGTCAT	0.572																																					p.V63V													.	NMRAL1	31		0			c.C189T												285	211	236					16																	4519318		2197	4300	6497	SO:0001819	synonymous_variant	57407	exon3			CATGATGACCTGG	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"Short chain dehydrogenase/reductase superfamily / Atypical members"	24987	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 48A, member 1"					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.189C>T	16.37:g.4519318G>A			55	0	0		59	0	0	NM_020677	22	0	0		Silent	SNP	ENST00000574733.1	37	CCDS10516.1																																																																																					0.572	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438579.1		NM_020677		A	4519318	G	A	4519318	2	1	57	1	0	0	0	0	0	0	0	1	10518	1277	45	3		3	NMRAL1	16	4519318	Silent	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10		4519318	85835435	56	4079											
SLC12A3	6559	bcgsc.ca	37	chr16	56913028	56913028	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggtcctgaatgacacAgtgacccctggctggggtgc	6	9	15	11	0	1	3	0	3	1	0	2	3	2	3	3	5	1	1	3	5	1	0			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:56913028A>T	ENST00000563236.1	+	10	1249	c.1224A>T	c.(1222-1224)acA>acT	p.T408T	SLC12A3_ENST00000566786.1_Silent_p.T407T|SLC12A3_ENST00000438926.2_Silent_p.T408T|SLC12A3_ENST00000262502.5_Silent_p.T407T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	408					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)	TGAATGACACAGTGACCCCTG	0.627																																					p.T408T													.	SLC12A3	99		0			c.A1224T												36	36	36					16																	56913028		2198	4300	6498	SO:0001819	synonymous_variant	6559	exon10			TGACACAGTGACC		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.1224A>T	16.37:g.56913028A>T			74	0	0		77	0	0	NM_001126108	1	0	0	A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																					0.627	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000432337.1				T	56913028	A	T	56913028	2	4	57	1	0	0	0	0	0	0	0	1	14407	175	7	5		5	SLC12A3	16	56913028	Silent	SNP	A	TCGA-2G-AAKG-01A-11D-A42Y-10	52393710	56913028	33441725	57	4080											
HSF4	3299	hgsc.bcm.edu;broad.mit.edu	37	chr16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccggaagccagtcccTccccctaagaccccgcgcct	6	5	10	20	3	0	1	0	0	0	1	2	2	2	2	8	2	1	0	8	2	2	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:67203680T>C	ENST00000521374.1	+	13	1471	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.S491P|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000584272.1_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)																									p.S491P													.	.			0			c.T1471C												39	45	43					16																	67203680		1849	4065	5914	SO:0001583	missense	3299	exon15			AGTCCCTCCCCCT	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		41	0	0	1097	53	0.11	6	NM_001040667	5	0	0	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	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		C	67203680	T	C	67203680	3	2	57	1	0	0	0	0	1	0	0	0	7413	1551	54	4	1535	4	HSF4	16	67203680	Missense_Mutation	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10	10290652	67203680	23151073	58	4081											
DPH1	1801	broad.mit.edu	37	chr17	1939269	1939269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtgcccgcaggttcaCggaggccgaagtgatggtga	7	7	15	12	3	1	2	1	2	0	0	1	4	1	3	4	4	1	2	4	4	1	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:1939269C>T	ENST00000263083.6	+	4	344	c.299C>T	c.(298-300)aCg>aTg	p.T100M	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Missense_Mutation_p.T20M	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	100					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						CGCAGGTTCACGGAGGCCGAA	0.637																																					p.T100M													.	DPH1	32		0			c.C299T												102	111	108					17																	1939269		2095	4206	6301	SO:0001583	missense	1801	exon4			GGTTCACGGAGGC	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.299C>T	17.37:g.1939269C>T	ENSP00000263083:p.Thr100Met		58	0	0		85	0.04	3	NM_001383	42	0	0	D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270747	0.59540	.	.	ENSG00000108963	ENST00000263083	T	0.46063	0.88	4.73	4.73	0.59995	.	0.118405	0.56097	D	0.000025	T	0.68742	0.3034	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.72625	0.967;0.967;0.978	T	0.74982	-0.3478	10	0.62326	D	0.03	-7.8869	16.4794	0.84153	0.0:1.0:0.0:0.0	.	110;110;100	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	M	100	ENSP00000263083:T100M	ENSP00000263083:T100M	T	+	2	0	DPH1	1886019	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	7.489000	0.81451	2.456000	0.83038	0.462000	0.41574	ACG			0.637	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438660.1		NM_001383		T	1939269	C	T	1939269	3	4	57	1	0	0	0	0	1	0	0	0	4724	536	19	1	313	1	DPH1	17	1939269	Missense_Mutation	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10		1939269	79255941	59	4082											
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr17	10309436	10309436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgttcttgttataatttggGctaatttttcatctctcatt	7	22	6	6	0	4	0	2	0	2	0	5	0	4	0	0	1	0	3	0	1	3	9			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:10309436G>A	ENST00000403437.2	-	21	2448	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	785	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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						TATAATTTGGGCTAATTTTTC	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.A785V													MYH8,NS,carcinoma,+1,1	MYH8	1	1	0			c.C2354T												159	150	153					17																	10309436		2203	4300	6503	SO:0001583	missense	4626	exon21	Familial Cancer Database	Carney Complex Variant	ATTTGGGCTAATT		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.2354C>T	17.37:g.10309436G>A	ENSP00000384330:p.Ala785Val		89	0	0		65	0.23	15	NM_002472	0		0	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579937	0.65992	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.92965	-3.14	5.22	5.22	0.72569	.	0.172230	0.27076	U	0.021052	D	0.88948	0.6576	L	0.38531	1.155	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	D	0.84080	0.0384	10	0.46703	T	0.11	.	18.9728	0.92722	0.0:0.0:1.0:0.0	.	785	P13535	MYH8_HUMAN	V	785	ENSP00000384330:A785V	ENSP00000252173:A785V	A	-	2	0	MYH8	10250161	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.486000	0.66856	2.732000	0.93576	0.650000	0.86243	GCC			0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252724.2		NM_002472		A	10309436	G	A	10309436	3	1	57	1	0	0	0	0	1	0	0	0	10057	1203	42	2	3539	2	MYH8	17	10309436	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	8370167	10309436	70885774	60	4083											
GPATCH8	23131	bcgsc.ca	37	chr17	42513867	42513867	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatttccatgcgacccatGcccatgacatcatacttgac	10	11	5	15	1	1	2	1	2	0	0	3	3	3	2	4	0	3	0	4	0	1	3			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:42513867G>T	ENST00000591680.1	-	4	270	c.240C>A	c.(238-240)ggC>ggA	p.G80G	GPATCH8_ENST00000434000.1_Silent_p.G2G|GPATCH8_ENST00000586265.1_5'UTR	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	80	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						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)		TGCGACCCATGCCCATGACAT	0.383																																					p.G80G													.	GPATCH8	114		0			c.C240A												142	118	126					17																	42513867		2203	4300	6503	SO:0001819	synonymous_variant	23131	exon4			ACCCATGCCCATG	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.240C>A	17.37:g.42513867G>T			65	0	0		54	0	0	NM_001002909	0		0	B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	CCDS32666.1																																																																																					0.383	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457797.1		NM_001002909		T	42513867	G	T	42513867	2	4	57	1	0	0	0	0	0	0	0	1	6608	1306	46	2		2	GPATCH8	17	42513867	Silent	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	32204431	42513867	38681343	61	4084											
USP36	57602	bcgsc.ca	37	chr17	76810500	76810500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaagcctctcaccttcacGtagcagtaatagtgcccggc	10	8	8	15	2	2	0	2	0	1	0	3	0	2	0	3	1	3	3	3	1	4	4	rs139221124	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:76810500G>A	ENST00000542802.3	-	11	1601	c.1158C>T	c.(1156-1158)taC>taT	p.Y386Y	USP36_ENST00000312010.6_Silent_p.Y386Y|USP36_ENST00000449938.2_Silent_p.Y86Y|USP36_ENST00000588467.1_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	386	USP.				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)			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)			TCACCTTCACGTAGCAGTAAT	0.532													G|||	7	0.00139776	0.0038	0.0014	5008	,	,		20495	0		0	False		,,,				2504	0.001				p.Y386Y													.	USP36	243		0			c.C1158T							G		29,4377	35.2+/-66.4	0,29,2174	84	64	71		1158	-1.9	1	17	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	USP36	NM_025090.3		0,29,6474	AA,AG,GG		0.0,0.6582,0.223		386/1124	76810500	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	57602	exon11			CTTCACGTAGCAG	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.1158C>T	17.37:g.76810500G>A			39	0	0		31	0	0	NM_025090	30	0	0	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	CCDS32755.1																																																																																					0.532	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437472.3		NM_025090		A	76810500	G	A	76810500	2	1	57	1	0	0	0	0	0	0	0	1	17091	1140	40	1		1	USP36	17	76810500	Silent	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	34296633	76810500	4384710	62	4085											
FEM1A	55527	broad.mit.edu	37	chr19	4793691	4793691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggggcccacatggacGccaccaatgccttcaagaag	13	4	11	13	1	1	1	1	0	0	1	1	2	1	2	4	3	2	1	4	3	4	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:4793691G>T	ENST00000269856.3	+	1	1964	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	609					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCACATGGACGCCACCAATGC	0.587																																					p.A609S													.	FEM1A	41		0			c.G1825T												61	54	56					19																	4793691		2203	4300	6503	SO:0001583	missense	55527	exon1			ATGGACGCCACCA	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1825G>T	19.37:g.4793691G>T	ENSP00000269856:p.Ala609Ser		21	0	0		30	0.1	3	NM_018708	15	0	0	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	7.778	0.708938	0.15239	.	.	ENSG00000141965	ENST00000269856	T	0.66460	-0.21	4.92	3.89	0.44902	Ankyrin repeat-containing domain (4);	0.070642	0.56097	U	0.000027	T	0.54822	0.1882	L	0.48935	1.535	0.45161	D	0.998179	B	0.32693	0.38	B	0.34991	0.193	T	0.44065	-0.9352	10	0.14656	T	0.56	-15.4201	8.1742	0.31272	0.0801:0.0:0.764:0.1559	.	609	Q9BSK4	FEM1A_HUMAN	S	609	ENSP00000269856:A609S	ENSP00000269856:A609S	A	+	1	0	FEM1A	4744691	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	4.636000	0.61339	1.055000	0.40461	0.491000	0.48974	GCC			0.587	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459000.1				T	4793691	G	T	4793691	3	4	57	1	0	0	0	0	1	0	0	0	5822	1087	38	1	1827	1	FEM1A	19	4793691	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10		4793691	54335292	63	4086											
LYPD4	147719	bcgsc.ca	37	chr19	42342975	42342975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctcaatgaacactagcGtctcctcgcagccctcttgc	7	11	7	16	2	3	1	1	1	3	0	6	1	3	1	2	0	4	1	2	0	3	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:42342975G>T	ENST00000330743.3	-	3	1402	c.191C>A	c.(190-192)aCg>aAg	p.T64K	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Intron|LYPD4_ENST00000343055.4_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	64						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GAACACTAGCGTCTCCTCGCA	0.502																																					p.T64K													.	LYPD4	30		0			c.C191A												159	145	150					19																	42342975		2203	4300	6503	SO:0001583	missense	147719	exon3			ACTAGCGTCTCCT	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.191C>A	19.37:g.42342975G>T	ENSP00000328737:p.Thr64Lys		50	0	0		46	0	0	NM_173506	0		0	Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266882	0.59540	.	.	ENSG00000183103	ENST00000330743	T	0.08984	3.03	3.97	2.93	0.34026	.	0.145147	0.32161	N	0.006483	T	0.24084	0.0583	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.01195	-1.1422	10	0.72032	D	0.01	-6.9186	7.4473	0.27219	0.1177:0.0:0.8823:0.0	.	64	Q6UWN0	LYPD4_HUMAN	K	64	ENSP00000328737:T64K	ENSP00000328737:T64K	T	-	2	0	LYPD4	47034815	0.985000	0.35326	0.850000	0.33497	0.853000	0.48598	2.330000	0.43885	1.252000	0.44001	0.551000	0.68910	ACG			0.502	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463039.1		NM_173506		T	42342975	G	T	42342975	3	4	57	1	0	0	0	0	1	0	0	0	9128	1145	40	1	561	1	LYPD4	19	42342975	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	37549284	42342975	16786008	64	4087											
SYMPK	8189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr19	46345588	46345588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgctcggcatgttgcggGcgatctcggcctgaggtgtg	3	11	17	10	4	1	1	0	1	1	0	3	2	1	1	1	4	3	4	1	4	0	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:46345588G>C	ENST00000245934.7	-	9	1251	c.1007C>G	c.(1006-1008)gCc>gGc	p.A336G		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	336					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CATGTTGCGGGCGATCTCGGC	0.637																																					p.A336G													.	.			0			c.C1007G												73	67	69					19																	46345588		2203	4300	6503	SO:0001583	missense	8189	exon9			TTGCGGGCGATCT	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1007C>G	19.37:g.46345588G>C	ENSP00000245934:p.Ala336Gly		90	0	0		64	0.3	19	NM_004819	76	0.46	35	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678921	0.47886	.	.	ENSG00000125755	ENST00000245934	.	.	.	6.17	6.17	0.99709	Armadillo-type fold (1);	0.159237	0.56097	D	0.000029	T	0.40067	0.1102	N	0.08118	0	0.41184	D	0.98625	B;B	0.18863	0.002;0.031	B;B	0.20767	0.002;0.031	T	0.26710	-1.0095	9	0.18276	T	0.48	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	351;336	Q4LE61;Q92797	.;SYMPK_HUMAN	G	336	.	ENSP00000245934:A336G	A	-	2	0	SYMPK	51037428	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.267000	0.58877	2.941000	0.99782	0.655000	0.94253	GCC			0.637	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316581.1		NM_004819		C	46345588	G	C	46345588	3	2	57	1	0	0	0	0	1	0	0	0	15462	1203	42	5	2893	5	SYMPK	19	46345588	Missense_Mutation	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	4002613	46345588	12783395	65	4088											
IZUMO1	284359	hgsc.bcm.edu;broad.mit.edu	37	chr19	49248527	49248527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcaaactccaggaccccTtttgcagtgtggcctcatct	8	11	8	14	0	3	0	2	0	1	0	4	1	4	1	4	2	3	2	4	2	1	2			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:49248527T>C	ENST00000332955.2	-	3	801	c.254A>G	c.(253-255)aAg>aGg	p.K85R		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	85					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)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCAGGACCCCTTTTGCAGTGT	0.483																																					p.K85R													.	.			0			c.A254G												141	119	126					19																	49248527		2203	4300	6503	SO:0001583	missense	284359	exon3			GACCCCTTTTGCA	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.254A>G	19.37:g.49248527T>C	ENSP00000327786:p.Lys85Arg		121	0	0		77	0.05	4	NM_182575	0		0	Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066432	0.55539	.	.	ENSG00000182264	ENST00000332955	T	0.23754	1.89	5.1	2.83	0.33086	.	0.543877	0.16686	N	0.203757	T	0.21801	0.0525	L	0.42245	1.32	0.09310	N	1	P	0.50156	0.932	P	0.45856	0.495	T	0.06862	-1.0803	10	0.30854	T	0.27	-25.9036	5.4545	0.16582	0.1747:0.0:0.1821:0.6432	.	85	Q8IYV9	IZUM1_HUMAN	R	85	ENSP00000327786:K85R	ENSP00000327786:K85R	K	-	2	0	IZUMO1	53940339	0.066000	0.20996	0.054000	0.19295	0.288000	0.27193	1.407000	0.34657	0.884000	0.36064	0.402000	0.26972	AAG			0.483	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466189.1		NM_182575		C	49248527	T	C	49248527	3	2	57	1	0	0	0	0	1	0	0	0	7948	1609	56	4	830	4	IZUMO1	19	49248527	Missense_Mutation	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10	2902939	49248527	9880456	66	4089											
GDF5	8200	bcgsc.ca	37	chr20	34025393	34025394	+	Frame_Shift_Ins	INS	-	-	T																															ggagggtgtcctggcttgggINSttcagggccgcccggtctgg																										TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr20:34025393_34025394insT	ENST00000374372.1	-	3	818_819	c.315_316insA	c.(313-318)gaacccfs	p.P106fs	GDF5_ENST00000374369.3_Frame_Shift_Ins_p.P106fs			P43026	GDF5_HUMAN	growth differentiation factor 5	106					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTGGCTTGGGTTCAGGGCCGC	0.634																																					p.P106fs													.	GDF5	66		0			c.316_317insA																																									SO:0001589	frameshift_variant	8200	exon1			GCTTGGGTTCAGG	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.316dupA	20.37:g.34025395_34025395dupT	ENSP00000363492:p.Pro106fs		57	0	0		80	0	0	NM_000557	0		0	E1P5Q2|Q96SB1	Frame_Shift_Ins	INS	ENST00000374372.1	37	CCDS13254.1																																																																																					0.634	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078875.2				T	34025394	-	T	34025393	7	5	57	1	0	1	1	0	0	0	0	0	6330	1261	44	0	1197	0	GDF5	20	34025393	Frame_Shift_Ins	INS	-	TCGA-2G-AAKG-01A-11D-A42Y-10		34025393	29000127	67	4090											
APOBEC3A	200315	hgsc.bcm.edu	37	chr22	39357586	39357586	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacacacgtgagactgcgTatcttcgctgcccgcatcta	10	9	8	14	4	2	1	0	1	2	1	3	2	2	1	1	0	3	3	1	0	3	3	rs202076860	byFrequency	TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr22:39357586T>C	ENST00000402255.1	+	4	573	c.369T>C	c.(367-369)cgT>cgC	p.R123R	APOBEC3A_ENST00000249116.2_Silent_p.R123R			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	123					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					TGAGACTGCGTATCTTCGCTG	0.572													C|||	105	0.0209665	0.0083	0.0086	5008	,	,		10140	0.0486		0.0249	False		,,,				2504	0.0143				p.R123R													APOBEC3A,caecum,carcinoma,+1,1	APOBEC3A	1	1	0			c.T369C												101	99	100					22																	39357586		2128	4075	6203	SO:0001819	synonymous_variant	200315	exon3			ACTGCGTATCTTC	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"Apolipoprotein B mRNA editing enzymes"	17343	protein-coding gene	gene with protein product	"phorbolin I"	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.369T>C	22.37:g.39357586T>C			65	0.0307692308	2		49	0.1	5	NM_145699	7	0	0	A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	CCDS13981.1																																																																																			0.001		0.572	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320915.2		NM_145699		C	39357586	T	C	39357586	2	2	57	1	0	0	0	0	0	0	0	1	789	1625	57	4		4	APOBEC3A	22	39357586	Silent	SNP	T	TCGA-2G-AAKG-01A-11D-A42Y-10		39357586	11946980	68	4091											
ZC3H7B	23264	bcgsc.ca	37	chr22	41742035	41742035	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaagcaggactgtaagtaCggggataactgcaccttcgc	13	7	11	10	2	0	0	0	0	0	0	1	2	0	2	1	3	5	4	1	3	5	4			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr22:41742035C>T	ENST00000352645.4	+	14	1745	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	ZC3H7B_ENST00000351589.4_Silent_p.Y496Y	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	512					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACTGTAAGTACGGGGATAACT	0.617																																					p.Y496Y													.	ZC3H7B	82		0			c.C1488T												193	168	177					22																	41742035		2203	4300	6503	SO:0001819	synonymous_variant	23264	exon14			TAAGTACGGGGAT		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1488C>T	22.37:g.41742035C>T			51	0	0		62	0	0	NM_017590	20	0	0	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	CCDS14013.1																																																																																					0.617	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320696.1		NM_017590		T	41742035	C	T	41742035	2	4	57	1	0	0	0	0	0	0	0	1	17596	547	19	1		1	ZC3H7B	22	41742035	Silent	SNP	C	TCGA-2G-AAKG-01A-11D-A42Y-10	2384449	41742035	9562531	69	4092											
SELO	85378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr22	50655406	50655406	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggatgtcattccagagcccGgctggacaaggacctggaag	10	6	14	11	2	1	1	1	0	0	1	2	5	2	5	3	5	1	1	3	5	2	1			TCGA-2G-AAKG-01A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	87b627bf-e42a-4f5f-9e22-7e8a479d5b29	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr22:50655406G>A	ENST00000248846.5	-	0	5612				TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000380903.2_Missense_Mutation_p.R565Q|SELO_ENST00000492092.1_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCAGAGCCCGGCTGGACAAG	0.667																																					.													.	.			0			.												18	24	22					22																	50655406		2128	4234	6362	SO:0001628	intergenic_variant	0	.			GAGCCCGGCTGGA	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50655406G>A			24	0	0		47	0.28	13	.	38	0.21	8	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622243	0.96660	.	.	ENSG00000073169	ENST00000380903	T	0.48836	0.8	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.981;0.998	T	0.74103	-0.3773	10	0.38643	T	0.18	.	18.6671	0.91495	0.0:0.0:1.0:0.0	.	565;408	Q9BVL4;Q6ICA4	SELO_HUMAN;.	Q	565	ENSP00000370288:R565Q	ENSP00000370288:R565Q	R	+	2	0	RP3-402G11.5	48997533	1.000000	0.71417	0.797000	0.32132	0.791000	0.44710	8.389000	0.90172	2.404000	0.81709	0.491000	0.48974	CGG			0.667	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075004.3		NM_020461		A	50655406	G	A	50655406	1	1	57	0	1	0	0	0	0	0	0	0	14041	1116	39	1		1	SELO	22	50655406	IGR	SNP	G	TCGA-2G-AAKG-01A-11D-A42Y-10	8913371	50655406	649160	70	4093											
PADI4	23569	broad.mit.edu	37	chr1	17690071	17690071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaagcccttcgggcccGtcatcaacggccgctgctgc	5	7	10	19	4	2	0	2	0	0	0	4	0	3	0	5	2	4	2	5	2	2	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:17690071G>A	ENST00000375448.4	+	16	1839	c.1813G>A	c.(1813-1815)Gtc>Atc	p.V605I		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	605					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTTCGGGCCCGTCATCAACGG	0.617																																					p.V605I													.	PADI4	70		0			c.G1813A												46	43	44					1																	17690071		2203	4300	6503	SO:0001583	missense	23569	exon16			GGGCCCGTCATCA	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1813G>A	1.37:g.17690071G>A	ENSP00000364597:p.Val605Ile		212	0	0		199	0.02	4	NM_012387	3	0	0	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	CCDS180.1	.	.	.	.	.	.	.	.	.	.	G	6.710	0.499675	0.12762	.	.	ENSG00000159339	ENST00000375448	T	0.20463	2.07	5.03	-3.87	0.04218	Protein-arginine deiminase, C-terminal (1);	0.709311	0.13892	N	0.355567	T	0.05960	0.0155	N	0.04043	-0.29	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.36915	-0.9728	10	0.05959	T	0.93	-12.7446	6.3673	0.21461	0.3756:0.3435:0.2809:0.0	.	605	Q9UM07	PADI4_HUMAN	I	605	ENSP00000364597:V605I	ENSP00000364597:V605I	V	+	1	0	PADI4	17562658	0.000000	0.05858	0.953000	0.39169	0.838000	0.47535	-0.825000	0.04433	-0.974000	0.03550	-0.415000	0.06103	GTC			0.617	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006799.1		NM_012387		A	17690071	G	A	17690071	3	1	58	1	0	0	0	0	1	0	0	0	11397	1145	40	1	1875	1	PADI4	1	17690071	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		17690071	231560550	1	4094											
HSPG2	3339	mdanderson.org	37	chr1	22149853	22149853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccccggcctgggcgcggtGctgcaggtccaggggctgtg	2	6	20	13	3	0	0	0	0	0	0	1	0	1	0	4	7	2	3	4	7	0	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:22149853G>T	ENST00000374695.3	-	97	13211	c.13132C>A	c.(13132-13134)Cac>Aac	p.H4378N	LDLRAD2_ENST00000543870.1_Intron|HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4378	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGGCGCGGTGCTGCAGGTCC	0.726																																					p.H4378N													.	.			0			c.C13132A												4	5	5					1																	22149853		2010	3923	5933	SO:0001583	missense	3339	exon97			CGCGGTGCTGCAG	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.13132C>A	1.37:g.22149853G>T	ENSP00000363827:p.His4378Asn		33	0	0		26	0.12	3	NM_005529	136	0	0	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202325	0.58234	.	.	ENSG00000142798	ENST00000374695	T	0.74947	-0.89	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.39083	N	0.001468	T	0.77061	0.4075	L	0.27053	0.805	0.40390	D	0.979536	B;D	0.55605	0.032;0.972	B;D	0.66716	0.024;0.946	T	0.74259	-0.3723	10	0.23302	T	0.38	.	16.2612	0.82547	0.0:0.0:1.0:0.0	.	2318;4378	Q59EG0;P98160	.;PGBM_HUMAN	N	4378	ENSP00000363827:H4378N	ENSP00000363827:H4378N	H	-	1	0	HSPG2	22022440	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	4.812000	0.62613	2.422000	0.82143	0.655000	0.94253	CAC			0.726	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007598.1		NM_005529		T	22149853	G	T	22149853	3	4	58	1	0	0	0	0	1	0	0	0	7445	1319	46	2	47	2	HSPG2	1	22149853	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	4459782	22149853	227100768	2	4095											
BAI2	576	broad.mit.edu	37	chr1	32222329	32222329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagggcagagcaggcactggGggcggggtcgaaggcggtgg	7	3	23	8	3	0	1	0	0	0	1	1	2	0	1	0	9	1	3	0	9	1	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:32222329G>T	ENST00000373658.3	-	4	450	c.109C>A	c.(109-111)Ccc>Acc	p.P37T	BAI2_ENST00000398547.1_Missense_Mutation_p.P25T|BAI2_ENST00000527361.1_Missense_Mutation_p.P37T|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398556.3_Missense_Mutation_p.P40T|BAI2_ENST00000398538.1_Missense_Mutation_p.P25T|BAI2_ENST00000257070.4_Missense_Mutation_p.P37T|BAI2_ENST00000398542.1_Missense_Mutation_p.P25T|BAI2_ENST00000373655.2_Missense_Mutation_p.P37T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	37					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)		CAGGCACTGGGGGCGGGGTCG	0.652																																					p.P37T													.	BAI2	128		0			c.C109A												25	26	25					1																	32222329		2198	4296	6494	SO:0001583	missense	576	exon4			CACTGGGGGCGGG	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.109C>A	1.37:g.32222329G>T	ENSP00000362762:p.Pro37Thr		195	0	0		216	0.02	4	NM_001703	1	0	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710637	0.48517	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.44083	1.6;1.82;0.98;0.98;1.98;0.93;0.93;1.03;1.58;1.44	5.35	5.35	0.76521	.	0.000000	0.42548	D	0.000692	T	0.43299	0.1241	L	0.46157	1.445	0.80722	D	1	P;P;P;P;P;P	0.47253	0.808;0.879;0.774;0.808;0.892;0.664	B;B;P;B;B;B	0.44946	0.159;0.396;0.465;0.222;0.365;0.275	T	0.14671	-1.0464	10	0.25106	T	0.35	.	18.2205	0.89899	0.0:0.0:1.0:0.0	.	25;37;25;25;37;37	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	T	40;25;37;37;25;37;37;25;30;71	ENSP00000381564:P40T;ENSP00000381555:P25T;ENSP00000362762:P37T;ENSP00000362759:P37T;ENSP00000381550:P25T;ENSP00000257070:P37T;ENSP00000435397:P37T;ENSP00000381548:P25T;ENSP00000410921:P30T;ENSP00000437219:P71T	ENSP00000257070:P37T	P	-	1	0	BAI2	31994916	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.057000	0.49931	2.677000	0.91161	0.561000	0.74099	CCC			0.652	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000381838.1		NM_001703		T	32222329	G	T	32222329	3	4	58	1	0	0	0	0	1	0	0	0	1299	1232	43	3	4768	3	BAI2	1	32222329	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	10072476	32222329	217028292	3	4096											
C1orf173	127254	mdanderson.org	37	chr1	75086440	75086440	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaagtagtttgcctttGtagacacaaaggttttcccc	9	16	7	9	0	1	1	1	0	0	1	2	1	2	1	3	1	1	4	3	1	4	8			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:75086440G>T	ENST00000326665.5	-	8	1196	c.978C>A	c.(976-978)taC>taA	p.Y326*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.Y129*	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		326										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						GTTTGCCTTTGTAGACACAAA	0.348																																					p.Y326X													.	.			0			c.C978A												109	105	107					1																	75086440		2203	4300	6503	SO:0001587	stop_gained	127254	exon8			GCCTTTGTAGACA																												ENST00000326665.5:c.978C>A	1.37:g.75086440G>T	ENSP00000322609:p.Tyr326*		130	0	0		123	0.04	5	NM_001002912	0		0	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	37	6.114683	0.97296	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5688	20.239	0.98366	0.0:0.0:1.0:0.0	.	.	.	.	X	326;129	.	ENSP00000322609:Y326X	Y	-	3	2	C1orf173	74859028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.192000	0.65115	2.884000	0.98904	0.655000	0.94253	TAC			0.348	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000026516.1				T	75086440	G	T	75086440	4	4	58	1	0	0	0	0	0	1	0	0	2016	1372	48	3	3642	3	C1orf173	1	75086440	Nonsense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	42864111	75086440	174164181	4	4097											
LHX8	431707	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	75602877	75602877	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtccatggcctcgggctcCggctgccctcctggcaagtg	3	8	14	16	3	0	0	0	0	0	0	4	0	3	0	5	5	1	3	5	5	1	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:75602877C>A	ENST00000294638.5	+	4	862	c.198C>A	c.(196-198)tcC>tcA	p.S66S	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Silent_p.S56S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	66					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCTCGGGCTCCGGCTGCCCTC	0.677																																					p.S66S													.	.			0			c.C198A												24	27	26					1																	75602877		2203	4300	6503	SO:0001819	synonymous_variant	431707	exon4			GGGCTCCGGCTGC	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.198C>A	1.37:g.75602877C>A			273	0	0		255	0.07	18	NM_001001933	13	0.08	1	E9PGE3	Silent	SNP	ENST00000294638.5	37	CCDS30756.1																																																																																					0.677	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000026700.1		NM_001001933		A	75602877	C	A	75602877	2	1	58	1	0	0	0	0	0	0	0	1	8791	639	23	1		1	LHX8	1	75602877	Silent	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	516437	75602877	173647744	5	4098											
AMY1A	278	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	104297234	104297234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctctatacttaccttctGggatgctaggtagaaaacca	12	11	8	10	0	2	1	0	0	2	1	2	2	2	2	3	2	5	2	3	2	7	6			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:104297234G>C	ENST00000370079.3	+	6	1056	c.992G>C	c.(991-993)tGg>tCg	p.W331S		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	331					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.W331*(1)		lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CTTACCTTCTGGGATGCTAGG	0.388																																					p.W331S													AMY1C,NS,carcinoma,0,1	AMY1A	2	1	1	Substitution - Nonsense(1)	lung(1)	c.G992C												246	248	248					1																	104297234		2191	4254	6445	SO:0001583	missense	278	exon7			CCTTCTGGGATGC		CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"amylase, alpha 1C; salivary"	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.992G>C	1.37:g.104297234G>C	ENSP00000359096:p.Trp331Ser		937	0	0		864	0.02	20	NM_001008221	0		0	A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	ENST00000370079.3	37	CCDS30784.1	.	.	.	.	.	.	.	.	.	.	G	7.823	0.718243	0.15372	.	.	ENSG00000187733	ENST00000370079	D	0.97994	-4.65	2.23	1.22	0.21188	.	0.249986	0.43747	D	0.000524	D	0.96595	0.8889	M	0.77313	2.365	0.80722	D	1	.	.	.	.	.	.	D	0.94877	0.8035	8	0.49607	T	0.09	.	8.5426	0.33402	0.0:0.0:0.5847:0.4153	.	.	.	.	S	331	ENSP00000359096:W331S	ENSP00000359096:W331S	W	+	2	0	AMY1C	104098757	1.000000	0.71417	0.988000	0.46212	0.125000	0.20455	4.274000	0.58921	0.229000	0.21039	0.184000	0.17185	TGG			0.388	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030375.1		NM_001008219		C	104297234	G	C	104297234	3	2	58	1	0	0	0	0	1	0	0	0	591	1357	47	5	4166	5	AMY1A	1	104297234	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	28694357	104297234	144953387	6	4099											
EPS8L3	79574	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	110300123	110300123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcagggacttgaagaGgatgtgtacgagctcagggg	11	8	17	5	1	2	2	2	1	0	1	2	6	2	4	0	4	2	3	0	4	3	3	rs540511118		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:110300123G>A	ENST00000361965.4	-	11	1055	c.949C>T	c.(949-951)Ctc>Ttc	p.L317F	EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Missense_Mutation_p.L317F|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.L318F	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	317						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GACTTGAAGAGGATGTGTACG	0.577													G|||	1	0.000199681	0	0	5008	,	,		18501	0		0	False		,,,				2504	0.001				p.L318F													.	.			0			c.C952T												86	74	78					1																	110300123		2203	4300	6503	SO:0001583	missense	79574	exon11			TGAAGAGGATGTG	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.949C>T	1.37:g.110300123G>A	ENSP00000355255:p.Leu317Phe		123	0	0		119	0.09	11	NM_139053	0		0	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382316	0.61845	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.29917	1.55;1.55;1.55	5.25	-1.16	0.09678	.	0.452766	0.23966	N	0.042807	T	0.31420	0.0796	M	0.78049	2.395	0.45822	D	0.998691	P;P;P;D	0.56746	0.544;0.951;0.556;0.977	B;B;B;P	0.56648	0.391;0.409;0.232;0.803	T	0.26430	-1.0103	10	0.59425	D	0.04	-7.4887	9.7899	0.40699	0.0:0.1189:0.2822:0.5989	.	317;317;317;318	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	F	317;318;317	ENSP00000354551:L317F;ENSP00000358820:L318F;ENSP00000355255:L317F	ENSP00000354551:L317F	L	-	1	0	EPS8L3	110101646	0.187000	0.23238	0.044000	0.18714	0.077000	0.17291	-0.347000	0.07750	-0.564000	0.06070	0.557000	0.71058	CTC			0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000032234.1		NM_024526		A	110300123	G	A	110300123	3	1	58	1	0	0	0	0	1	0	0	0	5204	1000	35	3	868	3	EPS8L3	1	110300123	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	6002889	110300123	138950498	7	4100											
APOA2	336	hgsc.bcm.edu;bcgsc.ca	37	chr1	161192313	161192313	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttttcaaagtaagacCtggataggtgaggggattag	12	12	13	4	0	1	3	1	2	0	1	1	5	1	5	1	4	0	1	1	4	4	6	rs76162486		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:161192313C>T	ENST00000367990.3	-	4	243		c.e4-1		APOA2_ENST00000468465.1_Splice_Site|APOA2_ENST00000491350.1_Splice_Site|APOA2_ENST00000464492.1_Splice_Site|APOA2_ENST00000470459.2_Splice_Site|APOA2_ENST00000463812.1_Splice_Site	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II						acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAAGTAAGACCTGGATAGGTG	0.517																																					.													.	.			0			c.186-1G>A												174	165	168					1																	161192313		2203	4300	6503	SO:0001630	splice_region_variant	336	exon5			TAAGACCTGGATA		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"Apolipoproteins"	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.186-1G>A	1.37:g.161192313C>T			196	0	0		161	0.05	8	NM_001643	0		0	B2R524	Splice_Site	SNP	ENST00000367990.3	37	CCDS1226.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443882	0.25987	.	.	ENSG00000158874	ENST00000367990	.	.	.	4.97	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2391	0.37484	0.0:0.9024:0.0:0.0976	.	.	.	.	.	-1	.	.	.	-	.	.	APOA2	159458937	0.998000	0.40836	0.997000	0.53966	0.318000	0.28184	2.182000	0.42556	1.320000	0.45209	0.655000	0.94253	.			0.517	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083037.1		NM_001643	Intron	T	161192313	C	T	161192313	5	4	58	1	0	0	0	0	0	0	1	0	782	695	24	3	121	3	APOA2	1	161192313	Splice_Site	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	50892190	161192313	88058308	8	4101											
TNR	7143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	175328773	175328773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtgtaagaacaatgacGtagttctccacctcacccac	13	9	7	12	1	2	2	1	1	1	1	3	2	2	2	3	0	1	3	3	0	5	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:175328773G>A	ENST00000367674.2	-	15	3657	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y	TNR_ENST00000263525.2_Silent_p.Y983Y			Q92752	TENR_HUMAN	tenascin R	983	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)					GAACAATGACGTAGTTCTCCA	0.522																																					p.Y983Y													.	.			0			c.C2949T												139	120	127					1																	175328773		2203	4300	6503	SO:0001819	synonymous_variant	7143	exon15			AATGACGTAGTTC	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.2949C>T	1.37:g.175328773G>A			132	0	0		113	0.1	11	NM_003285	0		0	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																					0.522	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084414.4		NM_003285		A	175328773	G	A	175328773	2	1	58	1	0	0	0	0	0	0	0	1	16361	1140	40	1		1	TNR	1	175328773	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	14136460	175328773	73921848	9	4102											
C1orf35	79169	mdanderson.org	37	chr1	228288913	228288913	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcttcctcctcttacaGcagggggagttggagtcgga	6	9	13	13	2	1	0	0	0	1	0	4	3	3	3	4	4	2	3	4	4	1	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:228288913G>T	ENST00000272139.4	-	8	945	c.711C>A	c.(709-711)tgC>tgA	p.C237*	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	237							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				TCCTCTTACAGCAGGGGGAGT	0.642																																					p.C237X													.	.			0			c.C711A												95	84	88					1																	228288913		2203	4300	6503	SO:0001587	stop_gained	79169	exon8			CTTACAGCAGGGG	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"multiple myeloma tumor-associated protein 2"					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.711C>A	1.37:g.228288913G>T	ENSP00000272139:p.Cys237*		65	0	0		44	0.07	3	NM_024319	102	0	0	Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Nonsense_Mutation	SNP	ENST00000272139.4	37	CCDS1566.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541882	0.96474	.	.	ENSG00000143793	ENST00000272139	.	.	.	3.44	2.53	0.30540	.	0.294986	0.32120	N	0.006545	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-15.563	7.6035	0.28089	0.1201:0.0:0.8799:0.0	.	.	.	.	X	237	.	ENSP00000272139:C237X	C	-	3	2	C1orf35	226355536	0.003000	0.15002	0.565000	0.28409	0.720000	0.41350	1.198000	0.32223	1.014000	0.39417	-0.663000	0.03849	TGC			0.642	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092245.1		NM_024319		T	228288913	G	T	228288913	4	4	58	1	0	0	0	0	0	1	0	0	2040	963	34	2	84	2	C1orf35	1	228288913	Nonsense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	52960140	228288913	20961708	10	4103											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228503691	228503691	+	Frame_Shift_Del	DEL	G	G	-																															ccgtgcacacctcggagaacGccgaggtggtcttcttcgag																										TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:228503691delG	ENST00000422127.1	+	50	13200	c.13156delG	c.(13156-13158)gccfs	p.A4386fs	OBSCN_ENST00000570156.2_Frame_Shift_Del_p.A5343fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.A4386fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.A1505fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.A2020fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4386	Ig-like 45.				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)				CTCGGAGAACGCCGAGGTGGT	0.662																																					p.N5342fs													OBSCN,colon,carcinoma,0,1	OBSCN	2142		0			c.16026delC																																									SO:0001589	frameshift_variant	84033	exon61			GAGAACGCCGAGG	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.13156delG	1.37:g.228503691delG	ENSP00000409493:p.Ala4386fs		187	0	0		151	0.07	10	NM_001271223	0		0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	CCDS58065.1																																																																																					0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		-	228503691	G	-	228503691	7	5	58	1	0	1	0	1	0	0	0	0	10829	1087	38	0	13350	0	OBSCN	1	228503691	Frame_Shift_Del	DEL	G	TCGA-2G-AAKH-01A-11D-A42Y-10	214778	228503691	20746930	11	4104	5	2									
OBSCN	84033	bcgsc.ca	37	chr1	228503692	228503692	+	Missense_Mutation	SNP	C	C	A																															cgtgcacacctcggagaacgCcgaggtggtcttcttcgaga																										TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:228503692C>A	ENST00000422127.1	+	50	13201	c.13157C>A	c.(13156-13158)gCc>gAc	p.A4386D	OBSCN_ENST00000570156.2_Missense_Mutation_p.A5343D|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4386D|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1505D|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2020D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4386	Ig-like 45.				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)				TCGGAGAACGCCGAGGTGGTC	0.662																																					p.A5343D													.	OBSCN	2142		0			c.C16028A												29	35	33					1																	228503692		2107	4191	6298	SO:0001583	missense	84033	exon61			AGAACGCCGAGGT	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.13157C>A	1.37:g.228503692C>A	ENSP00000409493:p.Ala4386Asp		187	0	0		154	0.08	12	NM_001271223	0		0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281166	0.59758	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.29	2.63	0.31362	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.401654	0.24443	N	0.038497	T	0.03136	0.0092	N	0.04508	-0.205	0.09310	N	1	P;P	0.48694	0.877;0.914	B;P	0.47346	0.216;0.544	T	0.45116	-0.9283	10	0.36615	T	0.2	.	8.0006	0.30295	0.0:0.6204:0.0:0.3796	.	4386;4386	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	D	4386;4386;2020;1505	ENSP00000284548:A4386D;ENSP00000409493:A4386D;ENSP00000355668:A2020D;ENSP00000355670:A1505D	ENSP00000284548:A4386D	A	+	2	0	OBSCN	226570315	0.002000	0.14202	0.017000	0.16124	0.439000	0.31926	0.984000	0.29565	0.893000	0.36288	0.462000	0.41574	GCC			0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		A	228503692	C	A	228503692	3	1	58	1	0	0	0	0	1	0	0	0	10829	739	26	2	13351	2	OBSCN	1	228503692	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	1	228503692	20746929	12	4105	5	2									
GNG4	2786	broad.mit.edu	37	chr1	235747114	235747114	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagatgctagtggtgcTgttattagacatgccctctt	7	15	12	7	0	1	2	0	0	1	2	1	3	1	2	1	2	3	3	1	2	3	5			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:235747114T>C	ENST00000366598.4	-	2	240	c.25A>G	c.(25-27)Agc>Ggc	p.S9G	GNG4_ENST00000450593.1_Missense_Mutation_p.S9G|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000391854.2_Missense_Mutation_p.S9G|GNG4_ENST00000366597.1_Missense_Mutation_p.S9G			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	9					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			CTAGTGGTGCTGTTATTAGAC	0.517																																					p.S9G													.	GNG4	18		0			c.A25G												191	177	182					1																	235747114		2203	4300	6503	SO:0001583	missense	2786	exon3			TGGTGCTGTTATT	BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.25A>G	1.37:g.235747114T>C	ENSP00000355557:p.Ser9Gly		109	0.0091743119	1		113	0.03	3	NM_001098721	17	0	0		Missense_Mutation	SNP	ENST00000366598.4	37	CCDS1607.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.875011	0.33162	.	.	ENSG00000168243	ENST00000450593;ENST00000391854;ENST00000366598;ENST00000366597	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.52	5.52	0.82312	G-protein gamma domain (3);	0.054028	0.64402	D	0.000001	T	0.23094	0.0558	.	.	.	0.38375	D	0.944965	B	0.12013	0.005	B	0.14578	0.011	T	0.10177	-1.0641	9	0.23302	T	0.38	-7.3167	13.1495	0.59482	0.0:0.0:0.0:1.0	.	9	P50150	GBG4_HUMAN	G	9	ENSP00000398629:S9G;ENSP00000375727:S9G;ENSP00000355557:S9G;ENSP00000355556:S9G	ENSP00000355556:S9G	S	-	1	0	GNG4	233813737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.743000	0.74848	2.085000	0.62840	0.533000	0.62120	AGC			0.517	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097906.1		NM_004485		C	235747114	T	C	235747114	3	2	58	1	0	0	0	0	1	0	0	0	6543	1580	55	4	210	4	GNG4	1	235747114	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	7243422	235747114	13503507	13	4106											
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	235872530	235872530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggatgaggataaaaagaCgaggatcattacgcgcccaa	16	6	12	7	3	1	2	1	1	0	1	1	7	1	5	1	3	1	0	1	3	5	2	rs528102141		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr1:235872530C>T	ENST00000389794.3	-	44	10178	c.10004G>A	c.(10003-10005)cGt>cAt	p.R3335H	LYST_ENST00000389793.2_Missense_Mutation_p.R3335H|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3335	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				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)			GATAAAAAGACGAGGATCATT	0.453													C|||	1	0.000199681	8e-04	0	5008	,	,		17566	0		0	False		,,,				2504	0				p.R3335H													.	.			0			c.G10004A												92	90	91					1																	235872530		2203	4300	6503	SO:0001583	missense	1130	exon44			AAAAGACGAGGAT	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.10004G>A	1.37:g.235872530C>T	ENSP00000374444:p.Arg3335His		268	0	0		210	0.13	27	NM_000081	13	0.23	3	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	36	5.653267	0.96724	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.80653	-1.4;-1.4	5.39	5.39	0.77823	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.88629	0.6488	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89148	0.3521	10	0.87932	D	0	.	19.5049	0.95111	0.0:1.0:0.0:0.0	.	3335	Q99698	LYST_HUMAN	H	3335	ENSP00000374444:R3335H;ENSP00000374443:R3335H	ENSP00000374443:R3335H	R	-	2	0	LYST	233939153	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.432000	0.80349	2.677000	0.91161	0.655000	0.94253	CGT			0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097533.5				T	235872530	C	T	235872530	3	4	58	1	0	0	0	0	1	0	0	0	9144	536	19	1	1441	1	LYST	1	235872530	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	125416	235872530	13378091	14	4107											
TAF1B	9014	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	10016027	10016027	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctggatctctggatggagTtgaatactcacaacgaaagg	12	10	11	8	1	3	1	1	1	2	0	4	5	3	4	0	4	2	1	0	4	4	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr2:10016027T>A	ENST00000263663.5	+	7	775	c.587T>A	c.(586-588)gTt>gAt	p.V196D	TAF1B_ENST00000396242.3_Intron	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	196	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|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)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGGATGGAGTTGAATACTCA	0.398																																					p.V196D													.	.			0			c.T587A												201	179	186					2																	10016027		2203	4300	6503	SO:0001583	missense	9014	exon7			ATGGAGTTGAATA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.587T>A	2.37:g.10016027T>A	ENSP00000263663:p.Val196Asp		123	0	0		117	0.08	9	NM_005680	80	0.16	13	B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114524	0.56505	.	.	ENSG00000115750	ENST00000263663	T	0.03358	3.96	5.72	5.72	0.89469	.	0.380247	0.29660	N	0.011523	T	0.11965	0.0291	M	0.62723	1.935	0.41513	D	0.988353	P;D	0.67145	0.93;0.996	B;D	0.63877	0.383;0.919	T	0.01468	-1.1347	9	.	.	.	-15.7524	8.5514	0.33453	0.0:0.0857:0.0:0.9143	.	196;196	Q53T94;Q53T94-2	TAF1B_HUMAN;.	D	196	ENSP00000263663:V196D	.	V	+	2	0	TAF1B	9933478	0.721000	0.28007	0.407000	0.26434	0.985000	0.73830	2.279000	0.43435	2.184000	0.69523	0.533000	0.62120	GTT			0.398	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323426.2		NM_005680		A	10016027	T	A	10016027	3	1	58	1	0	0	0	0	1	0	0	0	15543	1725	60	5	613	5	TAF1B	2	10016027	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10		10016027	233183346	15	4108											
GDF7	151449	mdanderson.org	37	chr2	20870822	20870822	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggccgggacgcggacagcGcagggcagcggcgggggcgc	5	2	22	12	7	0	0	0	0	0	0	0	2	0	2	1	7	2	2	1	7	0	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr2:20870822G>T	ENST00000272224.3	+	2	1566	c.990G>T	c.(988-990)gcG>gcT	p.A330A		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	330				A -> S (in Ref. 1; AAP97720). {ECO:0000305}.	activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|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 tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCGGACAGCGCAGGGCAgcg	0.766																																					p.A330A													.	.			0			c.G990T												2	2	2					2																	20870822		949	2256	3205	SO:0001819	synonymous_variant	151449	exon2			GACAGCGCAGGGC	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.990G>T	2.37:g.20870822G>T			23	0	0		28	0.07	2	NM_182828	0		0		Silent	SNP	ENST00000272224.3	37	CCDS1701.1																																																																																					0.766	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207563.2		NM_182828		T	20870822	G	T	20870822	2	4	58	1	0	0	0	0	0	0	0	1	6332	1074	38	1		1	GDF7	2	20870822	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	10854795	20870822	222328551	16	4109											
ALK	238	mdanderson.org	37	chr2	29754982	29754982	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttgagaaggagaaaggagCctggaaagagacagggaaaa	18	4	16	3	0	0	3	0	1	0	3	0	9	0	6	1	4	1	1	1	4	5	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr2:29754982C>T	ENST00000389048.3	-	4	1859	c.953G>A	c.(952-954)gGc>gAc	p.G318D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	318	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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)	GAGAAAGGAGCCTGGAAAGAG	0.517			"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																												p.G318D			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	.			0			c.G953A												97	89	91					2																	29754982		2203	4300	6503	SO:0001630	splice_region_variant	238	exon4	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	AAGGAGCCTGGAA	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.953-1G>A	2.37:g.29754982C>T			79	0	0		69	0.06	4	NM_004304	0		0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038315	0.75617	.	.	ENSG00000171094	ENST00000389048	T	0.31769	1.48	6.08	6.08	0.98989	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	.	.	.	.	T	0.35307	0.0927	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.25117	-1.0141	8	.	.	.	.	16.1635	0.81734	0.0:1.0:0.0:0.0	.	318	Q9UM73	ALK_HUMAN	D	318	ENSP00000373700:G318D	.	G	-	2	0	ALK	29608486	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	4.385000	0.59613	2.894000	0.99253	0.655000	0.94253	GGC			0.517	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324994.1		NM_004304	Missense_Mutation	T	29754982	C	T	29754982	5	4	58	1	0	0	0	0	0	0	1	0	525	753	26	2	4013	2	ALK	2	29754982	Splice_Site	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	8884160	29754982	213444391	17	4110											
USP34	9736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	61566736	61566736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactatatcccacaacaaagTatttcctttcttgcaaacat	14	13	3	11	0	1	0	0	0	1	0	3	1	3	0	2	0	3	2	2	0	6	6			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr2:61566736T>C	ENST00000398571.2	-	17	2657	c.2581A>G	c.(2581-2583)Act>Gct	p.T861A		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	861					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)			CACAACAAAGTATTTCCTTTC	0.303																																					p.T861A													.	.			0			c.A2581G												88	79	82					2																	61566736		1818	4079	5897	SO:0001583	missense	9736	exon17			ACAAAGTATTTCC	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.2581A>G	2.37:g.61566736T>C	ENSP00000381577:p.Thr861Ala		570	0	0		530	0.13	68	NM_014709	8	0.25	2	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	31	5.083212	0.94050	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04809	3.55	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	L	0.57536	1.79	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.00069	-1.2137	10	0.66056	D	0.02	.	15.9446	0.79784	0.0:0.0:0.0:1.0	.	861	Q70CQ2	UBP34_HUMAN	A	709;709;861	ENSP00000381577:T861A	ENSP00000263989:T709A	T	-	1	0	USP34	61420240	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.040000	0.89188	2.171000	0.68590	0.377000	0.23210	ACT			0.303	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325650.4				C	61566736	T	C	61566736	3	2	58	1	0	0	0	0	1	0	0	0	17089	1638	57	4	8315	4	USP34	2	61566736	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	31811754	61566736	181632637	18	4111											
ETAA1	54465	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	67630985	67630985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaacttactaggtagtgaaCcttttgctatgcaaaatatc	15	13	6	7	0	0	1	0	1	0	0	1	1	0	1	1	1	5	3	1	1	10	7			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr2:67630985C>T	ENST00000272342.5	+	5	1301	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	391						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						AGGTAGTGAACCTTTTGCTAT	0.353																																					p.P391S													.	.			0			c.C1171T												94	98	97					2																	67630985		2203	4297	6500	SO:0001583	missense	54465	exon5			AGTGAACCTTTTG	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.1171C>T	2.37:g.67630985C>T	ENSP00000272342:p.Pro391Ser		328	0	0		212	0.13	28	NM_019002	16	0.19	3	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	2.293	-0.361886	0.05103	.	.	ENSG00000143971	ENST00000272342	T	0.17213	2.29	5.77	-1.45	0.08828	.	0.559219	0.19329	N	0.116926	T	0.07052	0.0179	L	0.31664	0.95	0.26351	N	0.977207	B	0.16603	0.018	B	0.16722	0.016	T	0.33189	-0.9878	10	0.07030	T	0.85	-20.1333	0.9169	0.01306	0.1497:0.2041:0.296:0.3502	.	391	Q9NY74	ETAA1_HUMAN	S	391	ENSP00000272342:P391S	ENSP00000272342:P391S	P	+	1	0	ETAA1	67484489	0.788000	0.28762	0.993000	0.49108	0.022000	0.10575	0.736000	0.26130	0.066000	0.16515	-0.844000	0.03045	CCT			0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251735.1		NM_019002		T	67630985	C	T	67630985	3	4	58	1	0	0	0	0	1	0	0	0	5274	507	18	3	1189	3	ETAA1	2	67630985	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	6064249	67630985	175568388	19	4112											
CNNM4	26504	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	97475063	97475063	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccttcctcatgcagatcactCggcagcagtaccagaacggg	10	7	10	14	2	2	2	2	0	0	2	4	2	3	2	3	2	4	4	3	2	2	2	rs552453867		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr2:97475063C>G	ENST00000377075.2	+	7	2235	c.2137C>G	c.(2137-2139)Cgg>Ggg	p.R713G	CNNM4_ENST00000540067.1_Missense_Mutation_p.S229W|RP11-353K11.1_ENST00000608609.1_lincRNA	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	713					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GCAGATCACTCGGCAGCAGTA	0.587																																					p.R713G													.	.			0			c.C2137G												58	53	55					2																	97475063		2203	4300	6503	SO:0001583	missense	26504	exon7			ATCACTCGGCAGC	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.2137C>G	2.37:g.97475063C>G	ENSP00000366275:p.Arg713Gly		112	0	0		112	0.05	6	NM_020184	56	0.05	3	B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	CCDS2024.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.69|17.69	3.451138|3.451138	0.63290|0.63290	.|.	.|.	ENSG00000158158|ENSG00000158158	ENST00000377075|ENST00000540067	T|.	0.37235|.	1.21|.	5.45|5.45	3.58|3.58	0.41010|0.41010	RmlC-like jelly roll fold (1);|.	0.066851|.	0.64402|.	N|.	0.000014|.	T|T	0.75752|0.75752	0.3892|0.3892	M|M	0.80332|0.80332	2.49|2.49	0.44221|0.44221	D|D	0.997051|0.997051	D|D	0.89917|0.61080	1.0|0.989	D|P	0.79784|0.60541	0.993|0.876	T|T	0.77453|0.77453	-0.2582|-0.2582	10|8	0.87932|0.66056	D|D	0|0.02	-24.2277|-24.2277	11.9741|11.9741	0.53081|0.53081	0.3245:0.6755:0.0:0.0|0.3245:0.6755:0.0:0.0	.|.	713|229	Q6P4Q7|B7Z1U0	CNNM4_HUMAN|.	G|W	713|229	ENSP00000366275:R713G|.	ENSP00000366275:R713G|ENSP00000444806:S229W	R|S	+|+	1|2	2|0	CNNM4|CNNM4	96838790|96838790	0.996000|0.996000	0.38824|0.38824	0.993000|0.993000	0.49108|0.49108	0.895000|0.895000	0.52256|0.52256	3.348000|3.348000	0.52209|0.52209	0.605000|0.605000	0.29947|0.29947	0.563000|0.563000	0.77884|0.77884	CGG|TCG			0.587	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252954.1		NM_020184		G	97475063	C	G	97475063	3	3	58	1	0	0	0	0	1	0	0	0	3617	875	31	5	2163	5	CNNM4	2	97475063	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	29844078	97475063	145724310	20	4113											
GPR45	11250	broad.mit.edu;mdanderson.org	37	chr2	105858882	105858882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgctgggctacacggagctCcccgctgaccgcgcctacgt	5	7	13	16	5	0	1	0	1	0	0	1	2	1	2	4	2	4	4	4	2	2	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr2:105858882C>T	ENST00000258456.1	+	1	683	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	189						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						ACACGGAGCTCCCCGCTGACC	0.687																																					p.L189L													GPR45,medulla,primitive_neuroectodermal_tumour-medulloblastoma,+2,1	GPR45	73	1	0			c.C567T												32	29	30					2																	105858882		2203	4300	6503	SO:0001819	synonymous_variant	11250	exon1			GGAGCTCCCCGCT	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.567C>T	2.37:g.105858882C>T			61	0	0		41	0.07	3	NM_007227	0		0	Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	CCDS2066.1																																																																																					0.687	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253348.1		NM_007227		T	105858882	C	T	105858882	2	4	58	1	0	0	0	0	0	0	0	1	6710	842	30	3		3	GPR45	2	105858882	Silent	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	8383819	105858882	137340491	21	4114											
ALPPL2	251	mdanderson.org	37	chr2	233274571	233274571	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctggggacggccActgctccctgagtgtcccgt	3	10	14	14	2	0	1	0	1	0	0	2	2	2	2	3	3	4	4	3	3	0	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr2:233274571A>T	ENST00000295453.3	+	11	1640	c.1588A>T	c.(1588-1590)Act>Tct	p.T530S		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	530					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GGGGACGGCCACTGCTCCCTG	0.731																																					p.T530S													.	.			0			c.A1588T												7	7	7					2																	233274571		2164	4247	6411	SO:0001583	missense	251	exon11			ACGGCCACTGCTC	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1588A>T	2.37:g.233274571A>T	ENSP00000295453:p.Thr530Ser		21	0	0		26	0.12	3	NM_031313	381	0	1	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	a	5.466	0.270956	0.10349	.	.	ENSG00000163286	ENST00000295453	D	0.95342	-3.68	1.79	-3.59	0.04583	.	5.079150	0.00447	N	0.000080	D	0.85885	0.5801	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.06405	0.002	T	0.74830	-0.3531	10	0.30854	T	0.27	.	1.069	0.01617	0.326:0.2864:0.2517:0.1359	.	530	P10696	PPBN_HUMAN	S	530	ENSP00000295453:T530S	ENSP00000295453:T530S	T	+	1	0	ALPPL2	232982815	0.000000	0.05858	0.000000	0.03702	0.281000	0.26958	-3.111000	0.00599	-2.057000	0.00897	0.172000	0.16884	ACT			0.731	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257034.2		NM_031313		T	233274571	A	T	233274571	3	4	58	1	0	0	0	0	1	0	0	0	549	159	6	5	1630	5	ALPPL2	2	233274571	Missense_Mutation	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	127415689	233274571	9924802	22	4115											
ANO7	50636	mdanderson.org	37	chr2	242149033	242149033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcatgctggccggctctGtggtgatcgtggtgatggta	4	11	17	9	3	1	2	0	2	1	0	2	2	1	2	2	5	1	4	2	5	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr2:242149033G>T	ENST00000274979.8	+	13	1607	c.1504G>T	c.(1504-1506)Gtg>Ttg	p.V502L	ANO7_ENST00000402430.3_Missense_Mutation_p.V501L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	502					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GGCCGGCTCTGTGGTGATCGT	0.667																																					p.V502L													.	.			0			c.G1504T												53	55	55					2																	242149033		2203	4300	6503	SO:0001583	missense	50636	exon13			GGCTCTGTGGTGA	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1504G>T	2.37:g.242149033G>T	ENSP00000274979:p.Val502Leu		59	0	0		42	0.07	3	NM_001001891	0		0	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.144043	0.01728	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.62498	0.02;0.02	3.09	-0.774	0.10991	.	0.652402	0.14269	N	0.330273	T	0.41396	0.1157	L	0.34521	1.04	0.25970	N	0.982513	B	0.09022	0.002	B	0.08055	0.003	T	0.24190	-1.0167	10	0.10902	T	0.67	.	6.4228	0.21754	0.689:0.0:0.311:0.0	.	502	Q6IWH7	ANO7_HUMAN	L	502;501	ENSP00000274979:V502L;ENSP00000385418:V501L	ENSP00000274979:V502L	V	+	1	0	ANO7	241797706	0.947000	0.32204	0.013000	0.15412	0.020000	0.10135	1.916000	0.39986	0.010000	0.14839	0.306000	0.20318	GTG			0.667	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323509.1		NM_001001891		T	242149033	G	T	242149033	3	4	58	1	0	0	0	0	1	0	0	0	702	1377	48	3	1626	3	ANO7	2	242149033	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	8874462	242149033	1050340	23	4116											
SETD5	55209	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	9495475	9495475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactcaaacatcatctgtacCccaagagactagaactcagc	15	7	6	13	0	4	2	3	0	1	2	4	4	4	2	2	0	4	1	2	0	5	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr3:9495475C>A	ENST00000406341.1	+	16	2589	c.2399C>A	c.(2398-2400)cCc>cAc	p.P800H	SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Missense_Mutation_p.P702H|SETD5_ENST00000402198.1_Missense_Mutation_p.P800H|SETD5_ENST00000407969.1_Missense_Mutation_p.P819H|SETD5_ENST00000302463.6_Missense_Mutation_p.P702H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	800										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)		TCATCTGTACCCCAAGAGACT	0.363																																					p.P800H													SETD5_ENST00000402198,NS,carcinoma,+1,2	SETD5_ENST00000402198	1	2	0			c.C2399A												118	116	116					3																	9495475		1878	4102	5980	SO:0001583	missense	55209	exon17			CTGTACCCCAAGA	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.2399C>A	3.37:g.9495475C>A	ENSP00000383939:p.Pro800His		236	0	0		245	0.04	11	NM_001080517	116	0.09	10	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969826	0.74246	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93189	-2.84;-3.18;-2.84;-2.81;-3.18	5.52	4.64	0.57946	.	0.178095	0.51477	D	0.000093	D	0.93569	0.7947	L	0.29908	0.895	0.34967	D	0.752745	D;P;P;P	0.63880	0.993;0.915;0.698;0.708	P;P;B;B	0.62649	0.905;0.717;0.286;0.428	D	0.96600	0.9444	10	0.87932	D	0	-3.3143	14.7612	0.69607	0.0:0.9303:0.0:0.0697	.	469;702;800;819	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	H	800;702;800;819;702	ENSP00000385852:P800H;ENSP00000384429:P702H;ENSP00000383939:P800H;ENSP00000384114:P819H;ENSP00000302028:P702H	ENSP00000302028:P702H	P	+	2	0	SETD5	9470475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.897000	0.48664	1.468000	0.48064	0.655000	0.94253	CCC			0.363	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318425.1		XM_371614		A	9495475	C	A	9495475	3	1	58	1	0	0	0	0	1	0	0	0	14157	623	22	3	2457	3	SETD5	3	9495475	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10		9495475	188526955	24	4117											
FLNB	2317	broad.mit.edu	37	chr3	58116558	58116558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcaggcgtccgagcccGtgtcctgcagtccttcacgg	4	8	14	15	4	2	0	2	0	0	0	5	1	5	0	4	3	2	2	4	3	0	1	rs199590811		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr3:58116558G>A	ENST00000295956.4	+	25	4478	c.4313G>A	c.(4312-4314)cGt>cAt	p.R1438H	FLNB_ENST00000358537.3_Missense_Mutation_p.R1438H|FLNB_ENST00000357272.4_Missense_Mutation_p.R1438H|FLNB_ENST00000348383.5_Missense_Mutation_p.R1438H|FLNB_ENST00000429972.2_Missense_Mutation_p.R1438H|FLNB_ENST00000419752.2_Missense_Mutation_p.R1269H|FLNB_ENST00000493452.1_Missense_Mutation_p.R1269H|FLNB_ENST00000490882.1_Missense_Mutation_p.R1438H	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1438	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTCCGAGCCCGTGTCCTGCAG	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		17115	0		0	False		,,,				2504	0				p.R1438H													.	FLNB	430		0			c.G4313A												32	31	32					3																	58116558		2203	4300	6503	SO:0001583	missense	2317	exon25			GAGCCCGTGTCCT	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4313G>A	3.37:g.58116558G>A	ENSP00000295956:p.Arg1438His		215	0	0		241	0.02	4	NM_001457	229	0	0	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.37	1.618312	0.28801	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;D;T;T;T;D;T	0.91792	-0.57;-0.57;-2.91;-0.57;-0.57;-0.57;-2.91;-0.57	5.51	-1.08	0.09936	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.484748	0.24671	N	0.036558	T	0.74168	0.3681	N	0.01417	-0.88	0.21697	N	0.99959	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.001;0.002;0.002	T	0.65335	-0.6193	10	0.27082	T	0.32	.	10.5426	0.45041	0.6373:0.0:0.3627:0.0	.	1438;1438;1269;1269;1438;1438	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	H	1438;1438;1438;1438;1438;1438;1269;1269	ENSP00000295956:R1438H;ENSP00000420213:R1438H;ENSP00000351339:R1438H;ENSP00000415599:R1438H;ENSP00000232447:R1438H;ENSP00000349819:R1438H;ENSP00000418510:R1269H;ENSP00000414532:R1269H	ENSP00000295956:R1438H	R	+	2	0	FLNB	58091598	0.108000	0.22018	0.005000	0.12908	0.650000	0.38633	1.931000	0.40134	-0.142000	0.11354	0.655000	0.94253	CGT			0.642	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000353569.1		NM_001457		A	58116558	G	A	58116558	3	1	58	1	0	0	0	0	1	0	0	0	5947	1145	40	1	4411	1	FLNB	3	58116558	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	48621083	58116558	139905872	25	4118											
LSAMP	4045	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	115738431	115738431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgcagaccagagtcaCgttgctgccctcattcacag	9	8	10	14	1	3	2	3	0	0	2	3	2	3	2	3	1	3	3	3	1	0	2	rs143751711		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr3:115738431C>T	ENST00000490035.2	-	3	944	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	LSAMP_ENST00000539563.1_Missense_Mutation_p.V146M|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	149	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)		p.V149M(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		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)		ACCAGAGTCACGTTGCTGCCC	0.473																																					p.V149M													LSAMP,NS,carcinoma,0,1	LSAMP	62	1	1	Substitution - Missense(1)	breast(1)	c.G445A							C	MET/VAL	0,4406		0,0,2203	173	132	146		445	5.9	1	3	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	missense	LSAMP	NM_002338.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	149/339	115738431	1,13005	2203	4300	6503	SO:0001583	missense	4045	exon3			GAGTCACGTTGCT	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.445G>A	3.37:g.115738431C>T	ENSP00000419000:p.Val149Met		118	0	0		76	0.08	6	NM_002338	8	0.25	2	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655928	0.88056	0.0	1.16E-4	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;D	0.84800	0.72;0.72;0.72;-1.9	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.883	D	0.93127	0.6530	10	0.87932	D	0	-9.3573	20.3248	0.98698	0.0:1.0:0.0:0.0	.	149;149	B2RCU8;Q13449	.;LSAMP_HUMAN	M	133;149;146;183	ENSP00000328455:V133M;ENSP00000419000:V149M;ENSP00000443429:V146M;ENSP00000418506:V183M	ENSP00000328455:V133M	V	-	1	0	LSAMP	117221121	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.621000	0.61233	2.818000	0.97014	0.655000	0.94253	GTG			0.473	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354495.4		NM_002338		T	115738431	C	T	115738431	3	4	58	1	0	0	0	0	1	0	0	0	9064	536	19	1	591	1	LSAMP	3	115738431	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	57621873	115738431	82283999	26	4119											
P2RY13	53829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	151045875	151045875	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggtagcttttctgtgaaTtttttacataagaatatgta	12	18	7	4	0	1	2	0	1	1	1	1	2	1	2	0	1	2	3	0	1	7	9			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr3:151045875T>G	ENST00000325602.5	-	2	988	c.969A>C	c.(967-969)aaA>aaC	p.K323N	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	323					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TTTCTGTGAATTTTTTACATA	0.363																																					p.K323N													.	.			0			c.A969C												151	143	146					3																	151045875		2203	4300	6503	SO:0001583	missense	53829	exon2			TGTGAATTTTTTA	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.969A>C	3.37:g.151045875T>G	ENSP00000320376:p.Lys323Asn		165	0	0		99	0.21	21	NM_176894	1	0	0	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	T	9.830	1.188161	0.21954	.	.	ENSG00000181631	ENST00000325602	T	0.31510	1.49	5.81	-2.0	0.07433	.	0.493681	0.22695	N	0.056767	T	0.11367	0.0277	N	0.08118	0	0.20703	N	0.999861	B	0.06786	0.001	B	0.09377	0.004	T	0.10474	-1.0628	10	0.40728	T	0.16	-3.5636	3.9096	0.09197	0.1057:0.3827:0.1088:0.4027	.	323	Q9BPV8	P2Y13_HUMAN	N	323	ENSP00000320376:K323N	ENSP00000320376:K323N	K	-	3	2	P2RY13	152528565	0.014000	0.17966	0.574000	0.28523	0.919000	0.55068	-0.718000	0.04980	-0.348000	0.08286	-0.274000	0.10170	AAA			0.363	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341468.1		NM_023914		G	151045875	T	G	151045875	3	3	58	1	0	0	0	0	1	0	0	0	11367	1490	52	4	99	4	P2RY13	3	151045875	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	35307444	151045875	46976555	27	4120											
NSUN7	79730	mdanderson.org	37	chr4	40778207	40778207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatacctcaaaagtatttGtgtgtggagtacaatcacaa	16	12	7	6	0	2	0	2	0	0	0	2	1	2	1	1	1	2	2	1	1	8	5			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr4:40778207G>A	ENST00000381782.2	+	7	1462	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	NSUN7_ENST00000316607.5_Missense_Mutation_p.V323M	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	323							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						AAAAGTATTTGTGTGTGGAGT	0.318																																					p.V323M													.	.			0			c.G967A												87	92	90					4																	40778207		2203	4299	6502	SO:0001583	missense	79730	exon7			GTATTTGTGTGTG	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.967G>A	4.37:g.40778207G>A	ENSP00000371201:p.Val323Met		72	0	0		55	0.07	4	NM_024677	8	0.13	1	C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471438	0.84533	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.09445	2.98;2.98	5.61	5.61	0.85477	.	0.061486	0.64402	D	0.000005	T	0.32315	0.0825	L	0.59436	1.845	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.986	T	0.00567	-1.1667	10	0.56958	D	0.05	-18.7922	19.2661	0.93985	0.0:0.0:1.0:0.0	.	323;323	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	M	323	ENSP00000371201:V323M;ENSP00000319127:V323M	ENSP00000319127:V323M	V	+	1	0	NSUN7	40472964	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.070000	0.76763	2.643000	0.89663	0.557000	0.71058	GTG			0.318	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250454.2		NM_024677		A	40778207	G	A	40778207	3	1	58	1	0	0	0	0	1	0	0	0	10700	1377	48	3	989	3	NSUN7	4	40778207	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		40778207	150376069	28	4121											
PAICS	10606	broad.mit.edu	37	chr4	57316793	57316793	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttattttctagtcttatcgGgacctcaaagaagtaactcc	11	14	6	10	1	3	1	1	0	2	1	5	2	4	2	2	1	1	1	2	1	6	6			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr4:57316793G>T	ENST00000512576.1	+	6	857	c.696G>T	c.(694-696)cgG>cgT	p.R232R	PAICS_ENST00000399688.3_Silent_p.R239R|PAICS_ENST00000264221.2_Silent_p.R232R|PAICS_ENST00000514888.1_Silent_p.R140R	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	232	SAICAR synthetase.				'de novo' IMP biosynthetic process (GO:0006189)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	AGTCTTATCGGGACCTCAAAG	0.373																																					p.R239R	GBM(53;429 1144 8755 40726)												.	PAICS	21		0			c.G717T												60	54	56					4																	57316793		1788	4045	5833	SO:0001819	synonymous_variant	10606	exon7			TTATCGGGACCTC	X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.696G>T	4.37:g.57316793G>T			81	0	0		56	0.05	3	NM_001079525	761	0	0	E9PDH9|Q68CQ5	Silent	SNP	ENST00000512576.1	37	CCDS47061.1																																																																																					0.373	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363136.2		NM_006452		T	57316793	G	T	57316793	2	4	58	1	0	0	0	0	0	0	0	1	11412	1219	43	3		3	PAICS	4	57316793	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	16538586	57316793	133837483	29	4122											
ALB	213	hgsc.bcm.edu;bcgsc.ca	37	chr4	74283804	74283804	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctcctgcctgttctttaGctatccgtggtcctgaacca	5	14	8	14	1	2	1	0	1	2	0	5	1	4	1	5	1	3	3	5	1	3	4	rs77256214		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr4:74283804G>T	ENST00000503124.1	+	10	1185		c.e10-1		ALB_ENST00000401494.3_Splice_Site|ALB_ENST00000415165.2_Splice_Site|ALB_ENST00000295897.4_Splice_Site|ALB_ENST00000509063.1_Splice_Site|ALB_ENST00000505649.1_Splice_Site			Q8TES7	FBF1_HUMAN	albumin						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)			CTGTTCTTTAGCTATCCGTGG	0.438											OREG0007698	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ALB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									.													.	.			0			c.1429-1G>T												60	59	59					4																	74283804		2203	4300	6503	SO:0001630	splice_region_variant	213	exon12			TCTTTAGCTATCC	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	ENST00000503124.1:c.979-1G>T	4.37:g.74283804G>T			107	0	0	1151	87	0.2	17	NM_000477	0		0	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	ENST00000503124.1	37		.	.	.	.	.	.	.	.	.	.	G	10.62	1.401899	0.25291	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202;ENST00000511370	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5909	0.91212	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALB	74502668	1.000000	0.71417	0.940000	0.37924	0.059000	0.15707	5.688000	0.68227	2.744000	0.94065	0.650000	0.86243	.			0.438	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000365419.1		NM_000477	Intron	T	74283804	G	T	74283804	5	4	58	1	0	0	0	0	0	0	1	0	486	985	34	2	1474	2	ALB	4	74283804	Splice_Site	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	16967011	74283804	116870472	30	4123											
IRX4	50805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	1879733	1879733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgttccgcggcggccaCgtcatcttgttctccttctt	3	15	8	15	4	4	0	1	0	3	0	6	0	5	0	3	2	0	2	3	2	0	6			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr5:1879733C>T	ENST00000505790.1	-	5	1077	c.621G>A	c.(619-621)acG>acA	p.T207T	IRX4_ENST00000231357.2_Silent_p.T207T|IRX4_ENST00000513692.1_Silent_p.T207T|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	207					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCGGCGGCCACGTCATCTTGT	0.652																																					p.T207T													IRX4,colon,carcinoma,-1,1	IRX4	-1	1	0			c.G621A												70	62	64					5																	1879733		2203	4300	6503	SO:0001819	synonymous_variant	50805	exon4			CGGCCACGTCATC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.621G>A	5.37:g.1879733C>T			117	0	0		111	0.1	11	NM_016358	61	0.11	7	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Silent	SNP	ENST00000505790.1	37	CCDS3867.1																																																																																					0.652	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365500.1		NM_016358		T	1879733	C	T	1879733	2	4	58	1	0	0	0	0	0	0	0	1	7861	523	19	1		1	IRX4	5	1879733	Silent	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10		1879733	179035527	31	4124											
IRX1	79192	broad.mit.edu	37	chr5	3600085	3600085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacccgcgggccacccCggcgcgcacgggccctccgc	4	1	12	24	7	0	0	0	0	0	0	1	0	1	0	8	3	0	1	8	3	0	0	rs369355630		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr5:3600085C>T	ENST00000302006.3	+	2	1075	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	341					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)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						cgggccaccccggcgcgcacg	0.721																																					p.P341P													.	IRX1	106		0			c.C1023T							C		1,3909		0,1,1954	6	6	6		1023	-3	0	5		6	0,7532		0,0,3766	no	coding-synonymous	IRX1	NM_024337.3		0,1,5720	TT,TC,CC		0.0,0.0256,0.0087		341/481	3600085	1,11441	1955	3766	5721	SO:0001819	synonymous_variant	79192	exon2			CCACCCCGGCGCG	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1023C>T	5.37:g.3600085C>T			120	0.0083333333	1		89	0.08	7	NM_024337	11	0	0	Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	CCDS34132.1																																																																																					0.721	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365546.1		NM_024337		T	3600085	C	T	3600085	2	4	58	1	0	0	0	0	0	0	0	1	7858	639	23	1		1	IRX1	5	3600085	Silent	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	1720352	3600085	177315175	32	4125											
CDH9	1007	broad.mit.edu	37	chr5	26881347	26881347	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggttacaatcagctgtGagagattccaaagaactgag	13	11	10	7	0	2	4	1	2	1	2	3	5	3	4	1	1	3	2	1	1	4	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr5:26881347G>T	ENST00000231021.4	-	12	2440	c.2268C>A	c.(2266-2268)ctC>ctA	p.L756L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	756					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						AATCAGCTGTGAGAGATTCCA	0.468																																					p.L756L	Melanoma(8;187 585 15745 40864 52829)												.	CDH9	305		0			c.C2268A												125	118	120					5																	26881347		2203	4300	6503	SO:0001819	synonymous_variant	1007	exon12			AGCTGTGAGAGAT	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.2268C>A	5.37:g.26881347G>T			136	0	0		139	0.04	6	NM_016279	0		0	Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																					0.468	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207352.1		NM_016279		T	26881347	G	T	26881347	2	4	58	1	0	0	0	0	0	0	0	1	3119	1277	45	3		3	CDH9	5	26881347	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	23281262	26881347	154033913	33	4126											
NNT	23530	broad.mit.edu	37	chr5	43613188	43613189	+	Frame_Shift_Ins	INS	-	-	G																															atcactatagagtggcaggtINSgcccaaatccaaggggcaaa																								rs200396139|rs149285174	byFrequency	TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr5:43613188_43613189insG	ENST00000264663.5	+	3	551_552	c.330_331insG	c.(331-333)gccfs	p.A111fs	NNT_ENST00000344920.4_Frame_Shift_Ins_p.A111fs|NNT_ENST00000512996.2_5'UTR	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	111					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)					GAGTGGCAGGTGCCCAAATCCA	0.46																																					p.G110fs													NNT,adrenal_gland,adrenal_cortical_adenoma,0,1	NNT	92	1	0			c.330_331insG																																									SO:0001589	frameshift_variant	23530	exon3			GGCAGGTGCCCAA	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.331dupG	5.37:g.43613189_43613189dupG	ENSP00000264663:p.Ala111fs		151	0	0		134	0.11	15	NM_012343	12	0	0	Q16796|Q2TB60|Q8N3V4	Frame_Shift_Ins	INS	ENST00000264663.5	37	CCDS3949.1																																																																																					0.46	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214026.1		NM_182977		G	43613189	-	G	43613188	7	5	58	1	0	1	1	0	0	0	0	0	10527	1683	59	0	336	0	NNT	5	43613188	Frame_Shift_Ins	INS	-	TCGA-2G-AAKH-01A-11D-A42Y-10	16731841	43613188	137302072	34	4127											
PCDHGA4	56111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140735836	140735836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctcaccagctcagtcCaggaatcttcttccccgggt	7	11	7	16	1	5	0	2	0	3	0	8	1	7	1	4	2	1	1	4	2	1	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr5:140735836C>G	ENST00000571252.1	+	1	1069	c.1069C>G	c.(1069-1071)Cag>Gag	p.Q357E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	357	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			CAGCTCAGTCCAGGAATCTTC	0.478																																					p.Q357E													.	.			0			c.C1069G												31	32	32					5																	140735836		1982	4143	6125	SO:0001583	missense	56111	exon1			TCAGTCCAGGAAT	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.1069C>G	5.37:g.140735836C>G	ENSP00000458570:p.Gln357Glu		114	0	0		73	0.16	12	NM_018917	2	0	0	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																					0.478	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437959.1		NM_018917		G	140735836	C	G	140735836	3	3	58	1	0	0	0	0	1	0	0	0	11573	595	21	5	1071	5	PCDHGA4	5	140735836	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	97122648	140735836	40179424	35	4128											
GEMIN5	25929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	154280995	154280995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacatactgatcctgaaaaCacagctgtttggcaaaagct	14	10	8	9	0	0	3	0	3	0	0	1	3	1	3	1	1	4	4	1	1	5	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr5:154280995C>T	ENST00000285873.7	-	21	2993	c.2918G>A	c.(2917-2919)tGt>tAt	p.C973Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	973					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)			ATCCTGAAAACACAGCTGTTT	0.418																																					p.C973Y													.	.			0			c.G2918A												112	111	111					5																	154280995		2203	4300	6503	SO:0001583	missense	25929	exon21			TGAAAACACAGCT	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.2918G>A	5.37:g.154280995C>T	ENSP00000285873:p.Cys973Tyr		222	0	0		157	0.12	19	NM_015465	45	0.2	9	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795593	0.90453	.	.	ENSG00000082516	ENST00000285873	T	0.71222	-0.55	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.84811	0.0790	10	0.72032	D	0.01	-12.0261	20.3465	0.98790	0.0:1.0:0.0:0.0	.	972;973	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Y	973	ENSP00000285873:C973Y	ENSP00000285873:C973Y	C	-	2	0	GEMIN5	154261188	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.231000	0.78106	2.798000	0.96311	0.655000	0.94253	TGT			0.418	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252507.1				T	154280995	C	T	154280995	3	4	58	1	0	0	0	0	1	0	0	0	6345	478	17	3	1640	3	GEMIN5	5	154280995	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	13545159	154280995	26634265	36	4129											
GCNT2	2651	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	10586756	10586756	+	Intron	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aactgtctgaaagaccttgtCgcctctgaggttccctggaa	9	11	10	11	1	2	3	0	2	2	1	4	4	3	4	3	2	1	1	3	2	3	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr6:10586756C>G	ENST00000379597.3	+	2	1481				GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000265012.4_Silent_p.V178V|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAGACCTTGTCGCCTCTGAGG	0.473																																					p.V178V													.	.			0			c.C534G												114	112	113					6																	10586756		2203	4300	6503	SO:0001627	intron_variant	2651	exon1			CCTTGTCGCCTCT	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-34828C>G	6.37:g.10586756C>G			146	0	0		149	0.06	9	NM_145655	40	0.13	5		Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																					0.473	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000327912.3		NM_145649		G	10586756	C	G	10586756	1	3	58	0	1	0	0	0	0	0	0	0	6315	871	31	5		5	GCNT2	6	10586756	Intron	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10		10586756	160528311	37	4130											
HIST1H2BF	8343	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	26200084	26200084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagatccagacggccgtaCgcctgctgctgcccggggag	6	5	17	13	4	0	2	0	0	0	2	1	4	1	3	4	4	4	3	4	4	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr6:26200084C>T	ENST00000359985.1	+	1	337	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	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	100					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)				GACGGCCGTACGCCTGCTGCT	0.597																																					p.R100C													.	.			0			c.C298T												72	77	75					6																	26200084		2203	4300	6503	SO:0001583	missense	8343	exon1			GCCGTACGCCTGC	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.298C>T	6.37:g.26200084C>T	ENSP00000353074:p.Arg100Cys		75	0	0		86	0.06	5	NM_003522	0		0	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	15.31	2.795647	0.50208	.	.	ENSG00000197846	ENST00000359985	T	0.52754	0.65	3.79	3.79	0.43588	.	0.000000	0.51477	D	0.000100	T	0.51193	0.1660	.	.	.	0.41053	D	0.985313	.	.	.	.	.	.	T	0.54781	-0.8242	7	0.46703	T	0.11	.	15.479	0.75508	0.0:1.0:0.0:0.0	.	.	.	.	C	100	ENSP00000353074:R100C	ENSP00000353074:R100C	R	+	1	0	HIST1H2BF	26308063	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.118000	0.50414	2.043000	0.60533	0.650000	0.86243	CGC			0.597	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040108.1		NM_003522		T	26200084	C	T	26200084	3	4	58	1	0	0	0	0	1	0	0	0	7160	536	19	1	300	1	HIST1H2BF	6	26200084	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	15613328	26200084	144914983	38	4131											
MUC21	394263	mdanderson.org	37	chr6	30955233	30955233	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaattctgagtccagcacAacctccagtggggccaacac	12	6	8	15	0	1	1	0	1	1	0	3	1	3	1	5	2	3	1	5	2	3	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr6:30955233A>G	ENST00000376296.3	+	2	1522	c.1281A>G	c.(1279-1281)acA>acG	p.T427T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	427	28 X 15 AA approximate tandem repeats.|Ser-rich.				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						AGTCCAGCACAACCTCCAGTG	0.592																																					p.T427T													.	.			0			c.A1281G												133	127	129					6																	30955233		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			CAGCACAACCTCC	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.1281A>G	6.37:g.30955233A>G			63	0	0		98	0.05	5	NM_001010909	13	0	0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																					0.592	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909		G	30955233	A	G	30955233	2	3	58	1	0	0	0	0	0	0	0	1	9993	117	5	4		4	MUC21	6	30955233	Silent	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	4755149	30955233	140159834	39	4132											
FOXP4	116113	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	41555161	41555161	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccgccaccgctacctcGtttgccgctccccccaaggt	5	7	9	20	5	0	0	0	0	0	0	2	0	1	0	8	2	2	3	8	2	2	2	rs375722090		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr6:41555161G>C	ENST00000307972.4	+	6	795	c.783G>C	c.(781-783)tcG>tcC	p.S261S	FOXP4_ENST00000373060.1_Silent_p.S261S|FOXP4_ENST00000409208.1_Silent_p.S261S|FOXP4_ENST00000373057.3_Silent_p.S259S|FOXP4_ENST00000373063.3_Silent_p.S260S			Q8IVH2	FOXP4_HUMAN	forkhead box P4	261					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)			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)					CCGCTACCTCGTTTGCCGCTC	0.682											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.S261S													.	FOXP4	83		0			c.G783C												70	73	72					6																	41555161		2203	4300	6503	SO:0001819	synonymous_variant	116113	exon7			TACCTCGTTTGCC	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.783G>C	6.37:g.41555161G>C			167	0.005988024	1	902	286	0.03	10	NM_001012426	110	0.1	11	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Silent	SNP	ENST00000307972.4	37	CCDS34447.1																																																																																					0.682	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000106767.1	rescued with RNA-seq	NM_138457		C	41555161	G	C	41555161	2	2	58	1	0	0	0	0	0	0	0	1	6042	1132	40	5		5	FOXP4	6	41555161	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	10599928	41555161	129559906	40	4133											
C6orf108	23113	mdanderson.org	37	chr6	43194088	43194088	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgctgcagccactccAggtcctgctcatggatgagc	6	8	11	16	1	1	1	1	1	0	0	3	2	3	2	5	2	5	3	5	2	0	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr6:43194088A>G	ENST00000252050.4	+	0	7780				DNPH1_ENST00000230431.6_Missense_Mutation_p.L81P|RP3-330M21.5_ENST00000500590.1_RNA|DNPH1_ENST00000393987.2_Missense_Mutation_p.L81P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						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						CAGCCACTCCAGGTCCTGCTC	0.622																																					p.L81P													.	.			0			c.T242C												54	46	48					6																	43194088		2203	4300	6503	SO:0001628	intergenic_variant	10591	exon2			CACTCCAGGTCCT	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		6.37:g.43194088A>G			40	0	0		39	0.08	3	NM_199184	183	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.223573	0.39300	.	.	ENSG00000112667	ENST00000230431;ENST00000509253;ENST00000393987	.	.	.	4.3	3.12	0.35913	.	0.218454	0.30320	N	0.009900	T	0.58850	0.2151	M	0.67953	2.075	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.70016	0.952;0.967	T	0.62358	-0.6871	9	0.66056	D	0.02	-9.1691	6.5644	0.22503	0.89:0.0:0.11:0.0	.	81;81	O43598-2;O43598	.;RCL_HUMAN	P	81;150;81	.	ENSP00000230431:L81P	L	-	2	0	C6orf108	43302066	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	5.583000	0.67484	0.695000	0.31675	0.260000	0.18958	CTG			0.622	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040582.2		NM_015089		G	43194088	A	G	43194088	1	3	58	0	1	0	0	0	0	0	0	0	2322	188	7	4		4	C6orf108	6	43194088	IGR	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	1638927	43194088	127920979	41	4134											
UBE2CBP	90025	broad.mit.edu	37	chr6	83732269	83732269	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggcgatcacgctctggAcaaaccaagacctgtttgaa	12	8	10	11	2	2	2	1	1	1	1	2	4	2	3	2	2	1	2	2	2	3	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr6:83732269A>T	ENST00000369747.3	-	7	871	c.749T>A	c.(748-750)gTc>gAc	p.V250D		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	250	Interaction with UBE2C.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CACGCTCTGGACAAACCAAGA	0.403																																					p.V250D													.	.			0			c.T749A												64	62	62					6																	83732269		2203	4300	6503	SO:0001583	missense	90025	exon7			CTCTGGACAAACC	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.749T>A	6.37:g.83732269A>T	ENSP00000358762:p.Val250Asp		295	0	0		223	0.04	8	NM_198920	12	0	0	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640516	0.67244	.	.	ENSG00000118420	ENST00000369747	T	0.32023	1.47	5.72	5.72	0.89469	.	0.200950	0.43110	D	0.000603	T	0.38241	0.1033	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.996;0.995	D;D	0.66979	0.948;0.929	T	0.11155	-1.0599	10	0.28530	T	0.3	-16.2238	14.2382	0.65941	1.0:0.0:0.0:0.0	.	229;250	C9JRS1;Q7Z6J8	.;UB2CB_HUMAN	D	250	ENSP00000358762:V250D	ENSP00000358762:V250D	V	-	2	0	UBE2CBP	83788988	1.000000	0.71417	0.986000	0.45419	0.616000	0.37450	5.237000	0.65360	2.180000	0.69256	0.460000	0.39030	GTC			0.403	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041347.7		NM_198920		T	83732269	A	T	83732269	3	4	58	1	0	0	0	0	1	0	0	0	16871	275	10	5	436	5	UBE2CBP	6	83732269	Missense_Mutation	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	40538181	83732269	87382798	42	4135											
GPR6	2830	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	110301311	110301311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcatctatgccttccgCaaccaggagatccagcgcgc	9	7	8	17	3	2	1	1	0	1	1	4	2	4	1	5	1	3	1	5	1	2	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr6:110301311C>T	ENST00000275169.3	+	1	1014	c.996C>T	c.(994-996)cgC>cgT	p.R332R	GPR6_ENST00000414000.2_Silent_p.R347R	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ATGCCTTCCGCAACCAGGAGA	0.612																																					p.R332R													GPR6,caecum,carcinoma,+1,1	GPR6	46	1	0			c.C996T												107	110	109					6																	110301311		2203	4300	6503	SO:0001819	synonymous_variant	0	exon1			CTTCCGCAACCAG		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.996C>T	6.37:g.110301311C>T			123	0.0081300813	1		84	0.1	8	NM_005284	1	0	0	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	ENST00000275169.3	37	CCDS5079.1																																																																																					0.612	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041774.1				T	110301311	C	T	110301311	2	4	58	1	0	0	0	0	0	0	0	1	6715	697	25	2		2	GPR6	6	110301311	Silent	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	26569042	110301311	60813756	43	4136											
LAMA2	3908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	129204396	129204396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcggccactacgatgccGggagccgccggggtcctcct	4	6	15	16	6	0	0	0	0	0	0	3	2	2	1	6	4	3	0	6	4	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr6:129204396G>A	ENST00000421865.2	+	1	55	c.6G>A	c.(4-6)ccG>ccA	p.P2P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2					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)		CTACGATGCCGGGAGCCGCCG	0.706																																					p.P2P													.	.			0			c.G6A												6	8	7					6																	129204396		2134	4178	6312	SO:0001819	synonymous_variant	3908	exon1			GATGCCGGGAGCC	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.6G>A	6.37:g.129204396G>A			40	0	0		59	0.14	8	NM_000426	0		0	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																					0.706	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042180.1				A	129204396	G	A	129204396	2	1	58	1	0	0	0	0	0	0	0	1	8621	1103	39	1		1	LAMA2	6	129204396	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	18903085	129204396	41910671	44	4137											
LAMA2	3908	mdanderson.org	37	chr6	129691055	129691055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacttgctgtcacctcagCgggccccagagaggcttatt	8	9	11	13	1	2	1	2	0	0	1	2	2	2	1	3	2	3	3	3	2	1	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr6:129691055C>T	ENST00000421865.2	+	34	4928	c.4879C>T	c.(4879-4881)Cgg>Tgg	p.R1627W		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1627	Domain II and I.				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)		GTCACCTCAGCGGGCCCCAGA	0.448																																					p.R1627W													.	.			0			c.C4879T												76	81	80					6																	129691055		2203	4300	6503	SO:0001583	missense	3908	exon34			CCTCAGCGGGCCC	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.4879C>T	6.37:g.129691055C>T	ENSP00000400365:p.Arg1627Trp		70	0	0		34	0.09	3	NM_001079823	9	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026700	0.54683	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.10382	2.88	6.08	3.2	0.36748	Laminin I (1);	0.198113	0.44483	D	0.000451	T	0.10766	0.0263	L	0.32530	0.975	0.42683	D	0.993555	D;D	0.67145	0.996;0.996	P;P	0.59761	0.861;0.863	T	0.01795	-1.1272	10	0.72032	D	0.01	.	15.0559	0.71912	0.3996:0.6004:0.0:0.0	.	1627;1627	A6NF00;P24043	.;LAMA2_HUMAN	W	1627	ENSP00000400365:R1627W	ENSP00000346769:R1627W	R	+	1	2	LAMA2	129732748	1.000000	0.71417	0.911000	0.35937	0.448000	0.32197	1.124000	0.31320	0.360000	0.24265	0.655000	0.94253	CGG			0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042180.1				T	129691055	C	T	129691055	3	4	58	1	0	0	0	0	1	0	0	0	8621	759	27	1	5013	1	LAMA2	6	129691055	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	486659	129691055	41424012	45	4138											
HOXA3	3200	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	27150188	27150188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgattggcattataagcGaacccgttggctgcctggta	8	12	12	9	2	0	1	0	1	0	0	0	2	0	1	2	3	4	5	2	3	4	5			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr7:27150188G>T	ENST00000396352.4	-	2	271	c.72C>A	c.(70-72)ttC>ttA	p.F24L	HOXA3_ENST00000317201.2_Missense_Mutation_p.F24L|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	24					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CATTATAAGCGAACCCGTTGG	0.622																																					p.F24L	Esophageal Squamous(136;1368 1743 5685 7935 50360)												.	.			0			c.C72A												50	37	41					7																	27150188		2042	4066	6108	SO:0001583	missense	3200	exon2			ATAAGCGAACCCG		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.72C>A	7.37:g.27150188G>T	ENSP00000379640:p.Phe24Leu		190	0	0		161	0.11	17	NM_030661	1	0	0	A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236782	0.79800	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788;ENST00000522456	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.41	2.64	0.31445	.	0.099208	0.64402	D	0.000001	T	0.38825	0.1055	M	0.64676	1.99	0.47153	D	0.999334	B	0.18610	0.029	B	0.18871	0.023	T	0.19549	-1.0302	10	0.49607	T	0.09	.	10.1736	0.42924	0.2148:0.0:0.7852:0.0	.	24	O43365	HXA3_HUMAN	L	24	ENSP00000379640:F24L;ENSP00000324884:F24L;ENSP00000429426:F24L;ENSP00000430566:F24L	ENSP00000324884:F24L	F	-	3	2	HOXA3	27116713	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.373000	0.59537	0.274000	0.22072	0.462000	0.41574	TTC			0.622	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358708.2				T	27150188	G	T	27150188	3	4	58	1	0	0	0	0	1	0	0	0	7308	1049	37	1	1267	1	HOXA3	7	27150188	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		27150188	131988475	46	4139											
GLI3	2737	broad.mit.edu;mdanderson.org	37	chr7	42005961	42005961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcttcgctggagcggcGcgaggcgtcggtggagatgg	4	7	21	9	6	0	1	0	0	0	1	2	4	0	2	0	7	1	3	0	7	0	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr7:42005961G>A	ENST00000395925.3	-	15	2794	c.2710C>T	c.(2710-2712)Cgc>Tgc	p.R904C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	904					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGGAGCGGCGCGAGGCGTCG	0.721									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.R904C													.	GLI3	312		0			c.C2710T												21	25	24					7																	42005961		2198	4289	6487	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	AGCGGCGCGAGGC		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2710C>T	7.37:g.42005961G>A	ENSP00000379258:p.Arg904Cys		36	0	0		31	0.1	3	NM_000168	1	0	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640572	0.67244	.	.	ENSG00000106571	ENST00000395925	D	0.94232	-3.38	4.85	3.01	0.34805	.	0.049095	0.85682	N	0.000000	D	0.96046	0.8712	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94550	0.7753	10	0.87932	D	0	.	7.4362	0.27156	0.0768:0.0:0.5077:0.4156	.	904	P10071	GLI3_HUMAN	C	904	ENSP00000379258:R904C	ENSP00000379258:R904C	R	-	1	0	GLI3	41972486	1.000000	0.71417	0.976000	0.42696	0.889000	0.51656	3.625000	0.54238	0.421000	0.25980	0.462000	0.41574	CGC			0.721	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250806.3		NM_000168		A	42005961	G	A	42005961	3	1	58	1	0	0	0	0	1	0	0	0	6453	1087	38	1	2036	1	GLI3	7	42005961	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	14855773	42005961	117132702	47	4140											
EGFR	1956	mdanderson.org	37	chr7	55223545	55223545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatgtggtgacagatcaCggctcgtgcgtccgagcctg	8	10	13	10	4	1	2	1	1	0	1	3	3	2	2	2	2	2	1	2	2	2	1	rs182002674	byFrequency	TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr7:55223545C>T	ENST00000275493.2	+	8	1089	c.912C>T	c.(910-912)caC>caT	p.H304H	EGFR_ENST00000344576.2_Silent_p.H304H|EGFR_ENST00000454757.2_Silent_p.H251H|EGFR_ENST00000420316.2_Silent_p.H304H|EGFR_ENST00000455089.1_Silent_p.H259H|EGFR_ENST00000442591.1_Silent_p.H304H|EGFR_ENST00000342916.3_Silent_p.H304H	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	304					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|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 fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGACAGATCACGGCTCGTGCG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C|||	2	0.000399361	0	0	5008	,	,		15638	0		0.001	False		,,,				2504	0.001				p.H304H			yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	.	.			0			c.C912T												63	59	60					7																	55223545		2203	4300	6503	SO:0001819	synonymous_variant	1956	exon8	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	AGATCACGGCTCG		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.912C>T	7.37:g.55223545C>T			75	0	0		80	0.05	4	NM_201283	2	0	0	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																			0		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251456.2		NM_005228		T	55223545	C	T	55223545	2	4	58	1	0	0	0	0	0	0	0	1	4972	535	19	1		1	EGFR	7	55223545	Silent	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	13217584	55223545	103915118	48	4141											
AUTS2	26053	broad.mit.edu;mdanderson.org	37	chr7	70249953	70249953	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacacccaactgggaccccTtttgggccacctcctcatca	8	8	7	18	0	2	0	2	0	0	0	3	1	3	1	6	2	1	1	6	2	1	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr7:70249953T>C	ENST00000342771.4	+	16	2493	c.2172T>C	c.(2170-2172)ccT>ccC	p.P724P	AUTS2_ENST00000406775.2_Silent_p.P700P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	724										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTGGGACCCCTTTTGGGCCAC	0.502																																					p.P724P													.	AUTS2	173		0			c.T2172C												110	95	100					7																	70249953		2203	4300	6503	SO:0001819	synonymous_variant	26053	exon16			GACCCCTTTTGGG	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2172T>C	7.37:g.70249953T>C			121	0	0		128	0.04	5	NM_015570	46	0	0	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1																																																																																					0.502	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251971.2				C	70249953	T	C	70249953	2	2	58	1	0	0	0	0	0	0	0	1	1225	1596	56	4		4	AUTS2	7	70249953	Silent	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	15026408	70249953	88888710	49	4142											
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	82455963	82455963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaactgtcacctccagtGttttcttcttgagctatata	9	15	5	12	0	3	1	1	1	2	0	4	1	4	1	3	0	2	2	3	0	4	7			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr7:82455963G>A	ENST00000333891.9	-	18	14694	c.14357C>T	c.(14356-14358)aCa>aTa	p.T4786I	PCLO_ENST00000423517.2_Missense_Mutation_p.T4786I|PCLO_ENST00000426442.2_5'UTR	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						CACCTCCAGTGTTTTCTTCTT	0.343																																					p.T4786I													.	.			0			c.C14357T												120	116	117					7																	82455963		1826	4086	5912	SO:0001583	missense	27445	exon18			TCCAGTGTTTTCT	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.14357C>T	7.37:g.82455963G>A	ENSP00000334319:p.Thr4786Ile		120	0	0		83	0.11	9	NM_014510	0		0		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905983	0.52333	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.42900	0.96;0.96	5.48	5.48	0.80851	.	.	.	.	.	T	0.55940	0.1952	L	0.28608	0.87	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.996;1.0	D;D;D;D	0.97110	0.999;0.999;0.994;1.0	T	0.59306	-0.7479	9	0.87932	D	0	.	19.3566	0.94416	0.0:0.0:1.0:0.0	.	4786;4786;207;274	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	I	4786;4786;273	ENSP00000334319:T4786I;ENSP00000388393:T4786I	ENSP00000334319:T4786I	T	-	2	0	PCLO	82293899	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.475000	0.97721	2.587000	0.87381	0.555000	0.69702	ACA			0.343	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337368.5		NM_014510		A	82455963	G	A	82455963	3	1	58	1	0	0	0	0	1	0	0	0	11600	1377	48	3	1120	3	PCLO	7	82455963	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	12206010	82455963	76682700	50	4143											
AKAP9	10142	broad.mit.edu	37	chr7	91715587	91715587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcttctcagactggcgaGgtgaactactgcttgccctt	8	11	11	11	1	1	3	1	1	1	2	2	4	1	3	1	2	5	2	1	2	2	4	rs564794970	byFrequency	TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr7:91715587G>T	ENST00000359028.2	+	37	9307	c.9082G>T	c.(9082-9084)Ggt>Tgt	p.G3028C	AKAP9_ENST00000358100.2_Missense_Mutation_p.G2974C|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3024C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3028					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)			AGACTGGCGAGGTGAACTACT	0.398			T	BRAF	papillary thyroid																																p.G3024C				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788		0			c.G9070T												149	142	145					7																	91715587		2203	4300	6503	SO:0001583	missense	10142	exon37			TGGCGAGGTGAAC	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.9082G>T	7.37:g.91715587G>T	ENSP00000351922:p.Gly3028Cys		263	0	0		212	0.02	4	NM_005751	19	0	0	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.936415|2.936415	0.52972|0.52972	.|.	.|.	ENSG00000127914|ENSG00000127914	ENST00000435423|ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.|T;T;T;T	.|0.04194	.|3.78;3.77;3.8;3.68	4.89|4.89	4.01|4.01	0.46588|0.46588	.|.	.|0.398584	.|0.18615	.|N	.|0.136021	T|T	0.19525|0.19525	0.0469|0.0469	M|M	0.79475|0.79475	2.455|2.455	0.39011|0.39011	D|D	0.959545|0.959545	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.998;0.999;0.999	.|D;D;P;D;D	.|0.72338	.|0.961;0.977;0.87;0.939;0.939	T|T	0.01099|0.01099	-1.1452|-1.1452	5|10	.|0.87932	.|D	.|0	.|.	10.6089|10.6089	0.45410|0.45410	0.1552:0.0:0.8448:0.0|0.1552:0.0:0.8448:0.0	.|.	.|3028;3028;3028;3024;3016	.|F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.|.;.;AKAP9_HUMAN;.;.	D|C	168|3024;3028;2974;3028;870	.|ENSP00000348573:G3024C;ENSP00000351922:G3028C;ENSP00000350813:G2974C;ENSP00000378042:G870C	.|ENSP00000348573:G3024C	E|G	+|+	3|1	2|0	AKAP9|AKAP9	91553523|91553523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.849000|3.849000	0.55910|0.55910	1.407000|1.407000	0.46875|0.46875	0.585000|0.585000	0.79938|0.79938	GAG|GGT			0.398	AKAP9-202	KNOWN	basic	protein_coding	protein_coding				NM_005751		T	91715587	G	T	91715587	3	4	58	1	0	0	0	0	1	0	0	0	459	1000	35	3	9216	3	AKAP9	7	91715587	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	9259624	91715587	67423076	51	4144											
DUS4L	11062	broad.mit.edu	37	chr7	107207563	107207563	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatgtcaggaaagaaaaaaAgatcccatagaaatgtttca	20	9	7	5	0	2	3	2	0	0	3	3	4	3	4	1	1	0	1	1	1	7	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr7:107207563A>G	ENST00000265720.3	+	3	410	c.48A>G	c.(46-48)aaA>aaG	p.K16K	DUS4L_ENST00000498786.1_3'UTR|COG5_ENST00000393603.2_5'Flank|DUS4L_ENST00000402620.1_5'UTR|COG5_ENST00000297135.3_5'Flank	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	16							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						AAAGAAAAAAAGATCCCATAG	0.333																																					p.K16K													.	DUS4L	27		0			c.A48G												84	84	84					7																	107207563		2203	4300	6503	SO:0001819	synonymous_variant	11062	exon3			AAAAAAAGATCCC	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.48A>G	7.37:g.107207563A>G			136	0	0		136	0.03	4	NM_001270419	26	0	0	B4DLX0|Q2NKK1	Silent	SNP	ENST00000265720.3	37	CCDS5745.1																																																																																					0.333	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336967.2		NM_181581		G	107207563	A	G	107207563	2	3	58	1	0	0	0	0	0	0	0	1	4813	69	3	4		4	DUS4L	7	107207563	Silent	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	15491976	107207563	51931100	52	4145											
CTTNBP2	83992	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	117368303	117368303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaggatcgcagggggAgggcgcctgacctttgaact	9	6	15	11	2	0	2	0	2	0	0	1	4	0	4	2	4	1	2	2	4	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	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																																					p.S1299P													.	.			0			c.T3895C												79	90	86					7																	117368303		2203	4300	6503	SO:0001583	missense	83992	exon17			AGGGGGAGGGCGC		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		155	0	0		140	0.05	7	NM_033427	0		0	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	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		G	117368303	A	G	117368303	3	3	58	1	0	0	0	0	1	0	0	0	4047	304	11	4	1124	4	CTTNBP2	7	117368303	Missense_Mutation	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	10160740	117368303	41770360	53	4146											
C7orf49	78996	broad.mit.edu;mdanderson.org	37	chr7	134851458	134851458	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctggaaccccccggccTctgggaagggctgaggcctg	7	5	16	13	1	1	2	0	1	1	1	1	4	1	4	5	5	2	2	5	5	2	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr7:134851458T>G	ENST00000393114.3	-	4	560	c.379A>C	c.(379-381)Agg>Cgg	p.R127R	C7orf49_ENST00000424142.1_Silent_p.R72R|C7orf49_ENST00000483029.2_Silent_p.R72R|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.R126R			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	127						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CCCCCCGGCCTCTGGGAAGGG	0.607																																					p.R127R													.	C7orf49	24		0			c.A379C												57	68	64					7																	134851458		2203	4300	6503	SO:0001819	synonymous_variant	78996	exon4			CCGGCCTCTGGGA	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"modulator of retrovirus infection"					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.379A>C	7.37:g.134851458T>G			53	0	0		42	0.1	4	NM_024033	97	0.15	15	Q6NWZ4|Q6ZNR5	Silent	SNP	ENST00000393114.3	37	CCDS5838.2																																																																																					0.607	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340145.1		NM_024033		G	134851458	T	G	134851458	2	3	58	1	0	0	0	0	0	0	0	1	2400	1550	54	4		4	C7orf49	7	134851458	Silent	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	17483155	134851458	24287205	54	4147											
SSPO	23145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	149483197	149483197	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcagtgacggtgaatGgggtgagcgtgacgcccccc	6	5	18	12	4	0	4	0	4	0	0	0	4	0	4	4	4	1	1	4	4	1	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr7:149483197G>T	ENST00000378016.2	+	0	3265							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)			GACGGTGAATGGGGTGAGCGT	0.642																																					p.G1089W													.	.			0			c.G3265T												41	48	46					7																	149483197		2095	4218	6313			23145	exon23			GTGAATGGGGTGA	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.149483197G>T			103	0	0		99	0.14	14	NM_198455	0		0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						T	149483197	G	T	149483197	1	4	58	0	1	0	0	0	0	0	0	0	15212	1348	47	3		3	SSPO	7	149483197	RNA	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	14631739	149483197	9655466	55	4148											
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	3889549	3889549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaccggattttgtctcctAtgttgaatctcgttccatgc	6	17	8	10	2	2	1	0	1	2	0	5	2	3	2	3	1	2	3	3	1	3	6	rs539022079		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr8:3889549A>G	ENST00000520002.1	-	4	1043	c.488T>C	c.(487-489)aTa>aCa	p.I163T	CSMD1_ENST00000602723.1_Missense_Mutation_p.I163T|CSMD1_ENST00000539096.1_Missense_Mutation_p.I163T|CSMD1_ENST00000537824.1_Missense_Mutation_p.I163T|CSMD1_ENST00000602557.1_Missense_Mutation_p.I163T|CSMD1_ENST00000400186.3_Missense_Mutation_p.I163T|CSMD1_ENST00000542608.1_Missense_Mutation_p.I163T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	163	Sushi 1. {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)		TTTGTCTCCTATGTTGAATCT	0.483													A|||	1	0.000199681	0	0	5008	,	,		17045	0		0	False		,,,				2504	0.001				p.I163T													.	.			0			c.T488C												110	121	117					8																	3889549		2093	4232	6325	SO:0001583	missense	64478	exon4			TCTCCTATGTTGA			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.488T>C	8.37:g.3889549A>G	ENSP00000430733:p.Ile163Thr		171	0	0		104	0.06	6	NM_033225	0		0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	A	22.3	4.275220	0.80580	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.52	5.52	0.82312	.	0.131508	0.29185	U	0.012885	T	0.73297	0.3569	L	0.50919	1.6	0.47862	D	0.999537	D	0.89917	1.0	D	0.87578	0.998	T	0.70547	-0.4842	10	0.30078	T	0.28	.	14.8134	0.70013	1.0:0.0:0.0:0.0	.	163	E5RIG2	.	T	163;163;25;163;163;163	ENSP00000383047:I163T;ENSP00000430733:I163T;ENSP00000441462:I163T;ENSP00000446243:I163T;ENSP00000441675:I163T	ENSP00000320445:I25T	I	-	2	0	CSMD1	3876957	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.022000	0.93678	2.111000	0.64477	0.533000	0.62120	ATA			0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225		G	3889549	A	G	3889549	3	3	58	1	0	0	0	0	1	0	0	0	3946	449	16	4	10287	4	CSMD1	8	3889549	Missense_Mutation	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10		3889549	142474473	56	4149											
GPR124	25960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	37689047	37689047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtggagatcgtggtgctgGagacctctgcctcctactgc	6	10	14	11	1	1	2	0	0	1	2	3	4	2	2	3	4	4	1	3	4	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr8:37689047G>A	ENST00000412232.2	+	8	1052	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	GPR124_ENST00000315215.7_Missense_Mutation_p.E347K	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	347					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)			CGTGGTGCTGGAGACCTCTGC	0.652																																					p.E347K													.	.			0			c.G1039A												146	104	118					8																	37689047		2203	4300	6503	SO:0001583	missense	25960	exon8			GTGCTGGAGACCT	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.1039G>A	8.37:g.37689047G>A	ENSP00000406367:p.Glu347Lys		91	0	0		53	0.19	10	NM_032777	21	0.1	2	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	36	5.609572	0.96637	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.55234	0.53;0.53	5.22	5.22	0.72569	GPCR, family 2, extracellular hormone receptor domain (1);Immunoglobulin-like fold (1);	0.125343	0.52532	D	0.000071	T	0.73345	0.3575	M	0.77103	2.36	0.80722	D	1	D;P	0.67145	0.996;0.825	D;P	0.67900	0.954;0.473	T	0.76329	-0.2999	10	0.59425	D	0.04	-15.77	18.8299	0.92133	0.0:0.0:1.0:0.0	.	347;347	Q96PE1-2;Q96PE1	.;GP124_HUMAN	K	340;347;347	ENSP00000323508:E347K;ENSP00000406367:E347K	ENSP00000323508:E347K	E	+	1	0	GPR124	37808205	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.795000	0.99099	2.458000	0.83093	0.449000	0.29647	GAG			0.652	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343331.2				A	37689047	G	A	37689047	3	1	58	1	0	0	0	0	1	0	0	0	6652	1175	41	3	1048	3	GPR124	8	37689047	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	33799498	37689047	108674975	57	4150											
CYP7A1	1581	mdanderson.org	37	chr8	59409620	59409620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactggaggtctcatgatacGttggaggttttccatcatgc	8	13	12	8	1	2	1	2	1	1	0	4	4	3	3	1	4	2	2	1	4	1	4	rs201114135		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr8:59409620G>T	ENST00000301645.3	-	3	588	c.451C>A	c.(451-453)Cgt>Agt	p.R151S		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	151					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTCATGATACGTTGGAGGTTT	0.473									Neonatal Giant Cell Hepatitis																												p.R151S													CYP7A1,colon,carcinoma,0,1	CYP7A1	0	1	0			c.C451A												135	135	135					8																	59409620		2203	4300	6503	SO:0001583	missense	1581	exon3	Familial Cancer Database	Neonatal Hemochromatosis	TGATACGTTGGAG	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.451C>A	8.37:g.59409620G>T	ENSP00000301645:p.Arg151Ser		17	0	0		12	0.17	2	NM_000780	0		0	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	1.078	-0.667841	0.03428	.	.	ENSG00000167910	ENST00000301645	T	0.68331	-0.32	5.5	2.59	0.31030	.	0.644139	0.16809	N	0.198636	T	0.33147	0.0853	N	0.02315	-0.6	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21518	-1.0243	10	0.10377	T	0.69	-3.1479	6.176	0.20444	0.2508:0.1556:0.5936:0.0	.	151	P22680	CP7A1_HUMAN	S	151	ENSP00000301645:R151S	ENSP00000301645:R151S	R	-	1	0	CYP7A1	59572174	0.000000	0.05858	0.005000	0.12908	0.057000	0.15508	0.513000	0.22770	0.748000	0.32831	0.462000	0.41574	CGT			0.473	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378190.1		NM_000780		T	59409620	G	T	59409620	3	4	58	1	0	0	0	0	1	0	0	0	4198	1145	40	1	1079	1	CYP7A1	8	59409620	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	21720573	59409620	86954402	58	4151											
MLLT3	4300	hgsc.bcm.edu;broad.mit.edu	37	chr9	20414311	20414319	+	In_Frame_Del	DEL	CTGCTGCTG	CTGCTGCTG	-																															tgctgctactgctgctgctaCtgctgctgctgctgctgctg																								rs62640391		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	CTGCTGCTG	CTGCTGCTG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr9:20414311_20414319delCTGCTGCTG	ENST00000380338.4	-	5	811_819	c.525_533delCAGCAGCAG	c.(523-534)agcagcagcagt>agt	p.175_178SSSS>S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.172_175SSSS>S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	175	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctactgctgctgctgctgctgc	0.522			T	MLL	ALL																																p.176_178del				Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	MLLT3,caecum,carcinoma,0,1	MLLT3	125		0			c.526_534del																																									SO:0001651	inframe_deletion	4300	exon5			CTGCTACTGCTGC	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.525_533delCAGCAGCAG	9.37:g.20414320_20414328delCTGCTGCTG	ENSP00000369695:p.Ser187_Ser189del		85	0	0		63	0.21	13	NM_004529	0		0	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	In_Frame_Del	DEL	ENST00000380338.4	37	CCDS6494.1																																																																																					0.522	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051872.1		NM_004529		-	20414319	CTGCTGCTG	-	20414311	7	5	58	1	0	1	0	1	0	0	0	0	9644	565	20	0	1201	0	MLLT3	9	20414311	In_Frame_Del	DEL	CTGCTGCTG	TCGA-2G-AAKH-01A-11D-A42Y-10		20414311	120799120	59	4152											
KIF24	347240	broad.mit.edu	37	chr9	34310903	34310903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaattcctgtttttgtatGgtactgggaatcatctggta	9	16	10	6	0	2	1	1	0	1	1	3	2	3	2	1	3	1	4	1	3	5	6			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr9:34310903G>T	ENST00000402558.2	-	1	466	c.442C>A	c.(442-444)Cat>Aat	p.H148N	KIF24_ENST00000379174.3_Missense_Mutation_p.H148N|KIF24_ENST00000345050.2_Missense_Mutation_p.H148N|KIF24_ENST00000379166.2_Missense_Mutation_p.H148N			Q5T7B8	KIF24_HUMAN	kinesin family member 24	148					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GTTTTTGTATGGTACTGGGAA	0.393																																					p.H148N													.	KIF24	64		0			c.C442A												205	198	200					9																	34310903		1902	4131	6033	SO:0001583	missense	347240	exon2			TTGTATGGTACTG	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.442C>A	9.37:g.34310903G>T	ENSP00000384433:p.His148Asn		279	0	0		223	0.02	4	NM_194313	5	0	0	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346351	0.24426	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.70045	-0.24;-0.45;-0.24;-0.45	5.48	-0.359	0.12571	.	1.107710	0.06941	N	0.812735	T	0.53530	0.1802	L	0.44542	1.39	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.34900	-0.9810	10	0.30854	T	0.27	.	4.6377	0.12531	0.309:0.0:0.4034:0.2876	.	148;148	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	N	148	ENSP00000384433:H148N;ENSP00000368472:H148N;ENSP00000368464:H148N;ENSP00000340179:H148N	ENSP00000340179:H148N	H	-	1	0	KIF24	34300903	0.000000	0.05858	0.003000	0.11579	0.810000	0.45777	0.461000	0.21940	0.031000	0.15407	0.650000	0.86243	CAT			0.393	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052150.5				T	34310903	G	T	34310903	3	4	58	1	0	0	0	0	1	0	0	0	8307	1348	47	3	3712	3	KIF24	9	34310903	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	13896592	34310903	106902528	60	4153											
ANKS6	203286	mdanderson.org	37	chr9	101498829	101498829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctgttgccaggggccCtggtgttgctggcactgctc	3	10	17	11	0	0	0	0	0	0	0	1	0	0	0	2	6	3	6	2	6	0	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr9:101498829C>A	ENST00000353234.4	-	15	2635	c.2588G>T	c.(2587-2589)aGg>aTg	p.R863M	ANKS6_ENST00000375018.1_Missense_Mutation_p.R864M|ANKS6_ENST00000375019.2_Missense_Mutation_p.R562M|ANKS6_ENST00000540940.1_Missense_Mutation_p.R668M			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	863						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCCAGGGGCCCTGGTGTTGCT	0.572																																					p.R863M													.	.			0			c.G2588T												62	68	66					9																	101498829		1977	4149	6126	SO:0001583	missense	203286	exon15			GGGGCCCTGGTGT	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2588G>T	9.37:g.101498829C>A	ENSP00000297837:p.Arg863Met		73	0	0		47	0.06	3	NM_173551	20	0	0	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.592169|4.592169	0.86953|0.86953	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.73789	.|1.16;-0.77;-0.78;1.65	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.049951	.|0.85682	.|D	.|0.000000	T|T	0.78123|0.78123	0.4234|0.4234	N|N	0.24115|0.24115	0.695|0.695	0.36933|0.36933	D|D	0.891991|0.891991	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.85130	.|0.997;0.993	T|T	0.83082|0.83082	-0.0137|-0.0137	5|10	.|0.87932	.|D	.|0	-33.1188|-33.1188	14.8357|14.8357	0.70180|0.70180	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|864;863	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	H|M	332|562;864;863;668	.|ENSP00000364159:R562M;ENSP00000364158:R864M;ENSP00000297837:R863M;ENSP00000442189:R668M	.|ENSP00000297837:R863M	Q|R	-|-	3|2	2|0	ANKS6|ANKS6	100538650|100538650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.333000|6.333000	0.72939|0.72939	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	CAG|AGG			0.572	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000277053.1		NM_173551		A	101498829	C	A	101498829	3	1	58	1	0	0	0	0	1	0	0	0	692	681	24	3	31	3	ANKS6	9	101498829	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	67187926	101498829	39714602	61	4154											
ZBTB43	23099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	129596183	129596183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcagaatacaactgaGgctaactaaaaataggatct	17	8	9	7	0	1	3	0	2	1	1	1	4	1	4	0	2	4	3	0	2	8	4			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr9:129596183G>A	ENST00000373464.4	+	3	1659	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E	ZBTB43_ENST00000449886.1_Silent_p.E465E|ZBTB43_ENST00000373457.1_Silent_p.E465E	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	465					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(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						ATACAACTGAGGCTAACTAAA	0.438																																					p.E465E													.	.			0			c.G1395A												73	78	76					9																	129596183		2196	4268	6464	SO:0001819	synonymous_variant	23099	exon2			AACTGAGGCTAAC	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1395G>A	9.37:g.129596183G>A			155	0	0		143	0.41	58	NM_001135776	13	0.54	7	Q5JU96	Silent	SNP	ENST00000373464.4	37	CCDS6867.1																																																																																					0.438	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054124.1		NM_001135776		A	129596183	G	A	129596183	2	1	58	1	0	0	0	0	0	0	0	1	17567	991	35	3		3	ZBTB43	9	129596183	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	28097354	129596183	11617248	62	4155											
ANKRD30A	91074	broad.mit.edu;mdanderson.org	37	chr10	37442507	37442507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttaacagagtctctGtgagactgtttcacagaagg	11	14	9	7	0	2	3	1	1	1	3	3	4	2	3	0	1	2	1	0	1	3	4			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr10:37442507G>A	ENST00000602533.1	+	13	1646	c.1547G>A	c.(1546-1548)tGt>tAt	p.C516Y	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C516Y|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.C516Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	572					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						CAGAGTCTCTGTGAGACTGTT	0.274																																					p.C516Y													.	ANKRD30A	448		0			c.G1547A												97	99	98					10																	37442507		1793	4060	5853	SO:0001583	missense	91074	exon13			GTCTCTGTGAGAC	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.1547G>A	10.37:g.37442507G>A	ENSP00000473551:p.Cys516Tyr		791	0.0012642225	1		567	0.03	18	NM_052997	0		0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	0.007	-1.953195	0.00470	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06068	3.35;3.35	1.47	-0.605	0.11623	.	.	.	.	.	T	0.02649	0.0080	N	0.22421	0.69	0.09310	N	1	P	0.49185	0.92	B	0.40444	0.329	T	0.18053	-1.0349	9	0.02654	T	1	.	0.6861	0.00883	0.2408:0.3509:0.2368:0.1714	.	572	Q9BXX3	AN30A_HUMAN	Y	516	ENSP00000354432:C516Y;ENSP00000363792:C516Y	ENSP00000354432:C516Y	C	+	2	0	ANKRD30A	37482513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.017000	0.13399	-0.607000	0.05738	-3.948000	0.00015	TGT			0.274	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000047588.2		NM_052997		A	37442507	G	A	37442507	3	1	58	1	0	0	0	0	1	0	0	0	658	1377	48	3	1597	3	ANKRD30A	10	37442507	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		37442507	98092240	63	4156											
NFKB2	4791	broad.mit.edu;mdanderson.org	37	chr10	104159438	104159438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgctgctggcgggacagCgccacctgctgacggcgcag	5	4	17	15	6	0	1	0	1	0	0	0	2	0	2	2	3	3	4	2	3	0	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr10:104159438C>T	ENST00000369966.3	+	14	1682	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	NFKB2_ENST00000428099.1_Missense_Mutation_p.R478C|NFKB2_ENST00000189444.6_Missense_Mutation_p.R478C|NFKB2_ENST00000336486.5_3'UTR	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	478					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GGCGGGACAGCGCCACCTGCT	0.726			T	IGH@	B-NHL																																p.R478C				Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2	48		0			c.C1432T												4	6	5					10																	104159438		1624	3316	4940	SO:0001583	missense	4791	exon14			GGACAGCGCCACC	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1432C>T	10.37:g.104159438C>T	ENSP00000358983:p.Arg478Cys		43	0	0		32	0.13	4	NM_002502	175	0.38	67	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354942	0.61293	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.42900	0.96;0.96;0.96	4.24	3.32	0.38043	Ankyrin repeat-containing domain (1);	0.182110	0.43579	D	0.000550	T	0.34658	0.0905	M	0.66297	2.02	0.58432	D	0.999996	B;B	0.28850	0.225;0.225	B;B	0.20184	0.028;0.028	T	0.44907	-0.9297	10	0.87932	D	0	.	4.8963	0.13751	0.3332:0.5627:0.0:0.104	.	478;478	Q00653;A8K9D9	NFKB2_HUMAN;.	C	478	ENSP00000410256:R478C;ENSP00000358983:R478C;ENSP00000189444:R478C	ENSP00000189444:R478C	R	+	1	0	NFKB2	104149428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.644000	0.46613	2.372000	0.80975	0.511000	0.50034	CGC			0.726	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000050080.2				T	104159438	C	T	104159438	3	4	58	1	0	0	0	0	1	0	0	0	10393	768	27	1	1482	1	NFKB2	10	104159438	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	66716931	104159438	31375309	64	4157											
TAF5	6877	broad.mit.edu	37	chr10	105145120	105145120	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcagaggacggaactgttAgattgtggagccttcaaaca	12	10	11	8	1	2	2	2	0	0	2	2	5	2	5	1	3	3	1	1	3	3	4			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr10:105145120A>G	ENST00000369839.3	+	8	1725	c.1702A>G	c.(1702-1704)Aga>Gga	p.R568G	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	568					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CGGAACTGTTAGATTGTGGAG	0.403																																					p.R568G													.	TAF5	47		0			c.A1702G												103	92	96					10																	105145120		2203	4300	6503	SO:0001583	missense	6877	exon8			ACTGTTAGATTGT	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1702A>G	10.37:g.105145120A>G	ENSP00000358854:p.Arg568Gly		92	0	0		70	0.04	3	NM_006951	29	0	0	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654264	0.67472	.	.	ENSG00000148835	ENST00000369839	T	0.67865	-0.29	5.71	3.27	0.37495	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043870	0.85682	D	0.000000	T	0.81403	0.4815	M	0.79805	2.47	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.82971	-0.0192	10	0.87932	D	0	-18.4627	13.9027	0.63815	0.493:0.507:0.0:0.0	.	568	Q15542	TAF5_HUMAN	G	568	ENSP00000358854:R568G	ENSP00000358854:R568G	R	+	1	2	TAF5	105135110	0.013000	0.17824	0.997000	0.53966	0.979000	0.70002	0.272000	0.18644	0.465000	0.27167	0.528000	0.53228	AGA			0.403	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050144.1				G	105145120	A	G	105145120	3	3	58	1	0	0	0	0	1	0	0	0	15551	412	15	4	1732	4	TAF5	10	105145120	Missense_Mutation	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	985682	105145120	30389627	65	4158											
SHOC2	8036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	112724174	112724174	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagatcccaaagtaccaTcagccaaggaaagagaaaag	22	3	8	8	0	1	2	1	0	0	2	2	4	2	3	3	1	2	1	3	1	8	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr10:112724174T>C	ENST00000369452.4	+	2	403	c.58T>C	c.(58-60)Tca>Cca	p.S20P	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Missense_Mutation_p.S20P	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	20					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CAAAGTACCATCAGCCAAGGA	0.398																																					p.S20P													.	.			0			c.T58C												53	57	56					10																	112724174		2203	4300	6503	SO:0001583	missense	8036	exon2			GTACCATCAGCCA	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.58T>C	10.37:g.112724174T>C	ENSP00000358464:p.Ser20Pro		108	0	0		73	0.37	27	NM_007373	37	0.51	19	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485346	0.44147	.	.	ENSG00000108061	ENST00000265277;ENST00000369452	D;D	0.91631	-2.88;-2.88	5.99	5.99	0.97316	.	0.059661	0.64402	D	0.000001	D	0.84871	0.5568	N	0.08118	0	0.36464	D	0.866869	B;B	0.29085	0.232;0.079	B;B	0.28849	0.095;0.044	D	0.86048	0.1524	10	0.59425	D	0.04	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	20;20	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	P	20	ENSP00000265277:S20P;ENSP00000358464:S20P	ENSP00000265277:S20P	S	+	1	0	SHOC2	112714164	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.980000	0.49321	2.291000	0.77112	0.533000	0.62120	TCA			0.398	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050355.1		NM_007373		C	112724174	T	C	112724174	3	2	58	1	0	0	0	0	1	0	0	0	14310	1435	50	4	60	4	SHOC2	10	112724174	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	7579054	112724174	22810573	66	4159											
TACC2	10579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	123954584	123954584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgaagaggcatttgagaCcccggagtcaacgacccctg	10	8	11	12	2	2	3	1	2	1	2	2	6	2	4	4	2	1	1	4	2	2	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr10:123954584C>A	ENST00000369005.1	+	8	6204	c.5864C>A	c.(5863-5865)aCc>aAc	p.T1955N	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Missense_Mutation_p.T33N|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.T1910N|TACC2_ENST00000513429.1_Missense_Mutation_p.T101N|TACC2_ENST00000260733.3_Missense_Mutation_p.T33N|TACC2_ENST00000334433.3_Missense_Mutation_p.T1955N|TACC2_ENST00000358010.1_Missense_Mutation_p.T101N|TACC2_ENST00000360561.3_Missense_Mutation_p.T33N|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.T1959N|TACC2_ENST00000453444.2_Missense_Mutation_p.T1959N|TACC2_ENST00000368999.1_Missense_Mutation_p.T33N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1955					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)				GCATTTGAGACCCCGGAGTCA	0.617																																					p.T1955N													.	.			0			c.C5864A												101	105	104					10																	123954584		2203	4300	6503	SO:0001583	missense	10579	exon8			TTGAGACCCCGGA	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.5864C>A	10.37:g.123954584C>A	ENSP00000358001:p.Thr1955Asn		58	0	0		63	0.22	14	NM_206862	23	0.57	13	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143468	0.77888	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;3.19;2.96;0.6;0.6;3.19;0.6;0.6;0.6;0.6;0.6	4.75	4.75	0.60458	.	0.000000	0.33895	N	0.004459	T	0.68915	0.3053	M	0.62723	1.935	0.43808	D	0.996367	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.996;0.997;0.997;0.998;0.998;0.999	T	0.70346	-0.4897	10	0.49607	T	0.09	-17.931	14.7498	0.69516	0.0:1.0:0.0:0.0	.	50;1959;33;1910;33;33;101;1955	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;TACC2_HUMAN	N	1955;101;1959;1910;1955;101;1959;1945;33;33;33;33;50	ENSP00000358001:T1955N;ENSP00000425062:T101N;ENSP00000424467:T1959N;ENSP00000427618:T1910N;ENSP00000334280:T1955N;ENSP00000350701:T101N;ENSP00000395048:T1959N;ENSP00000353763:T33N;ENSP00000357995:T33N;ENSP00000422815:T33N;ENSP00000260733:T33N;ENSP00000420967:T50N	ENSP00000260733:T33N	T	+	2	0	TACC2	123944574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.166000	0.64965	2.201000	0.70794	0.556000	0.70494	ACC			0.617	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000090004.1				A	123954584	C	A	123954584	3	1	58	1	0	0	0	0	1	0	0	0	15525	507	18	3	5962	3	TACC2	10	123954584	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	11230410	123954584	11580163	67	4160											
HRAS	3265	ucsc.edu	37	chr11	534295	534295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcccacaccgccggcgcCcaccaccaccagcttatatt	8	7	6	20	3	0	0	0	0	0	0	0	0	0	0	7	1	2	1	7	1	2	4			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr11:534295C>T	ENST00000451590.1	-	2	215	c.28G>A	c.(28-30)Ggc>Agc	p.G10S	HRAS_ENST00000311189.7_Missense_Mutation_p.G10S|HRAS_ENST00000417302.1_Missense_Mutation_p.G10S|HRAS_ENST00000397596.2_Missense_Mutation_p.G10S|HRAS_ENST00000397594.1_Missense_Mutation_p.G10S|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	10					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)			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)		CCGCCGGCGCCCACCACCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																											p.G10S			yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	.	HRAS	1232		0			c.G28A												67	64	65					11																	534295		2202	4300	6502	SO:0001583	missense	3265	exon2	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	CGGCGCCCACCAC	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.28G>A	11.37:g.534295C>T	ENSP00000407586:p.Gly10Ser		54	0	0		53	0.06	3	NM_001130442	69	0.1	7	B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644540	0.87859	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.98028	-4.67;-4.67;-4.67;-4.67;-4.67	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	H	0.99609	4.655	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	D	0.97735	1.0205	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	10;10	P01112-2;P01112	.;RASH_HUMAN	S	10	ENSP00000380722:G10S;ENSP00000380723:G10S;ENSP00000407586:G10S;ENSP00000388246:G10S;ENSP00000309845:G10S	ENSP00000309845:G10S	G	-	1	0	HRAS	524295	1.000000	0.71417	0.998000	0.56505	0.510000	0.34073	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC			0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259403.2		NM_176795		T	534295	C	T	534295	3	4	58	1	0	0	0	0	1	0	0	0	7363	623	22	3	624	3	HRAS	11	534295	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10		534295	134472221	68	4161											
EFCAB4A	283229	mdanderson.org	37	chr11	830251	830251	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcccggtcccccgaaggCgcgagagcgagcacgagagg	8	2	17	14	7	0	2	0	0	0	2	2	6	1	2	3	3	2	1	3	3	1	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr11:830251C>T	ENST00000525077.1	+	5	708	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	CD151_ENST00000397421.1_5'Flank|CD151_ENST00000322008.4_5'Flank|CD151_ENST00000397420.3_5'Flank|EFCAB4A_ENST00000528542.2_Splice_Site_p.R203C|AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000450448.1_Splice_Site_p.R203C			Q8N4Y2	EFC4A_HUMAN		203					cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCCGAAGGCGCGAGAGCGA	0.716																																					p.R203C													.	.			0			c.C607T												4	7	6					11																	830251		1760	3818	5578	SO:0001630	splice_region_variant	283229	exon6			CGAAGGCGCGAGA																												ENST00000525077.1:c.606-1C>T	11.37:g.830251C>T			36	0	0		40	0.08	3	NM_173584	4	0	0	D5LPR2|Q8NBW8	Missense_Mutation	SNP	ENST00000525077.1	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.942257	0.73672	.	.	ENSG00000177685	ENST00000528542;ENST00000450448;ENST00000321883;ENST00000525077	T;T;T	0.09911	2.93;2.93;3.16	4.38	2.37	0.29283	.	0.547119	0.16408	N	0.215730	T	0.24470	0.0593	L	0.50333	1.59	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.916;0.992;0.992	T	0.00391	-1.1769	10	0.87932	D	0	-19.0097	10.0941	0.42464	0.5034:0.4965:0.0:0.0	.	203;110;203	Q8N4Y2-3;E7EU41;Q8N4Y2	.;.;EFC4A_HUMAN	C	203	ENSP00000432334:R203C;ENSP00000409256:R203C;ENSP00000435299:R203C	ENSP00000324024:R203C	R	+	1	0	EFCAB4A	820251	0.994000	0.37717	0.996000	0.52242	0.962000	0.63368	0.593000	0.23999	0.251000	0.21505	0.436000	0.28706	CGC			0.716	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000383097.1			Missense_Mutation	T	830251	C	T	830251	5	4	58	1	0	0	0	0	0	0	1	0	4941	782	27	1	625	1	EFCAB4A	11	830251	Splice_Site	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	295956	830251	134176265	69	4162											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466827	57466827	+	Frame_Shift_Del	DEL	A	A	-																															atcgatgtcttacagcagccAaaaagcccaacctggtgtct																										TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr11:57466827delA	ENST00000287169.3	+	11	3281	c.1919delA	c.(1918-1920)caafs	p.Q640fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.Q587fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	640					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Q640P(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TACAGCAGCCAAAAAGCCCAA	0.542																																					p.Q640fs													ZDHHC5,NS,carcinoma,0,1	ZDHHC5	49	1	1	Substitution - Missense(1)	endometrium(1)	c.1919delA												62	65	64					11																	57466827		2201	4296	6497	SO:0001589	frameshift_variant	25921	exon11			GCAGCCAAAAAGC	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1919delA	11.37:g.57466827delA	ENSP00000287169:p.Gln640fs		118	0	0		115	0.06	7	NM_015457	409	0	0	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Del	DEL	ENST00000287169.3	37	CCDS7965.1																																																																																					0.542	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393694.1		NM_015457		-	57466827	A	-	57466827	7	5	58	1	0	1	0	1	0	0	0	0	17641	130	5	0	1957	0	ZDHHC5	11	57466827	Frame_Shift_Del	DEL	A	TCGA-2G-AAKH-01A-11D-A42Y-10	56636576	57466827	77539689	70	4163											
CNTF	1270	broad.mit.edu	37	chr11	58391741	58391741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacccttcttctccaagtcGctgcctttgcataccagata	9	13	5	14	1	2	1	0	0	2	1	4	1	2	1	4	0	4	2	4	0	4	6			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr11:58391741G>A	ENST00000361987.4	+	2	429	c.349G>A	c.(349-351)Gct>Act	p.A117T	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	117					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)				TCTCCAAGTCGCTGCCTTTGC	0.478																																					p.A117T													.	CNTF	22		0			c.G349A												99	85	90					11																	58391741		2201	4295	6496	SO:0001583	missense	1270	exon2			CAAGTCGCTGCCT	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.349G>A	11.37:g.58391741G>A	ENSP00000355370:p.Ala117Thr		178	0	0		167	0.03	5	NM_000614	0		0	B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944787	0.34283	.	.	ENSG00000242689	ENST00000361987	T	0.35236	1.32	5.45	2.3	0.28687	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.26666	0.0652	M	0.62723	1.935	0.25691	N	0.985684	B	0.30526	0.283	B	0.25759	0.063	T	0.34129	-0.9841	9	0.02654	T	1	-3.2346	6.9176	0.24369	0.086:0.0:0.3701:0.5438	.	117	P26441	CNTF_HUMAN	T	117	ENSP00000355370:A117T	ENSP00000447778:A117T	A	+	1	0	CNTF	58148317	0.036000	0.19791	0.987000	0.45799	0.750000	0.42670	0.803000	0.27083	0.158000	0.19367	-0.182000	0.12963	GCT			0.478	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268673.1		NM_000614		A	58391741	G	A	58391741	3	1	58	1	0	0	0	0	1	0	0	0	3639	1087	38	1	355	1	CNTF	11	58391741	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	924914	58391741	76614775	71	4164											
LTBP3	4054	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	65310634	65310634	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaagacatctgtaggaGccattggtattgatgcagtc	11	10	13	7	0	1	2	0	1	1	1	2	3	1	3	1	3	2	4	1	3	3	4			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr11:65310634G>A	ENST00000301873.5	-	18	2806	c.2538C>T	c.(2536-2538)ggC>ggT	p.G846G	LTBP3_ENST00000532932.1_Silent_p.G276G|LTBP3_ENST00000322147.4_Silent_p.G846G|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000536982.1_Silent_p.G472G|LTBP3_ENST00000529189.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	846	Cys-rich.|EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						ATCTGTAGGAGCCATTGGTAT	0.582																																					p.G846G													.	.			0			c.C2538T												125	110	115					11																	65310634		2201	4297	6498	SO:0001819	synonymous_variant	4054	exon18			GTAGGAGCCATTG	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.2538C>T	11.37:g.65310634G>A			106	0	0		126	0.06	8	NM_001130144	33	0.06	2	O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170566	0.21621	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.25	-0.0622	0.13781	.	.	.	.	.	T	0.54398	0.1856	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45556	-0.9253	4	.	.	.	.	8.1246	0.30990	0.3929:0.0:0.6071:0.0	.	.	.	.	F	497	.	.	L	-	1	0	LTBP3	65067210	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	0.300000	0.19156	-0.043000	0.13513	0.455000	0.32223	CTC			0.582	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390538.1		NM_021070		A	65310634	G	A	65310634	2	1	58	1	0	0	0	0	0	0	0	1	9091	958	34	2		2	LTBP3	11	65310634	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	6918893	65310634	69695882	72	4165											
APOA1	335	hgsc.bcm.edu	37	chr11	116708059	116708059	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctaggttaggggacacctAcccgtcaggaagagcacggc	10	5	13	13	2	1	1	1	0	0	1	1	3	1	3	3	5	2	2	3	5	4	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr11:116708059A>C	ENST00000236850.4	-	2	409		c.e2+1		APOA1_ENST00000375323.1_Splice_Site|APOA1_ENST00000359492.2_Splice_Site|APOA1_ENST00000375320.1_Splice_Site|APOA1_ENST00000375329.2_Splice_Site|AP006216.12_ENST00000444200.1_RNA	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I						adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGGGACACCTACCCGTCAGGA	0.647																																					.													APOA1,NS,carcinoma,-2,1	APOA1	-2	1	0			c.43+2T>G												31	30	30					11																	116708059		2182	4280	6462	SO:0001630	splice_region_variant	335	exon3			ACACCTACCCGTC	X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"Apolipoproteins"	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.43+1T>G	11.37:g.116708059A>C			121	0.0082644628	1		137	0.1	14	NM_000039	0		0	A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Splice_Site	SNP	ENST00000236850.4	37	CCDS8378.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179343	0.57800	.	.	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7503	0.57304	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	APOA1	116213269	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	5.135000	0.64777	1.835000	0.53391	0.459000	0.35465	.			0.647	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106281.2		NM_000039	Intron	C	116708059	A	C	116708059	5	2	58	1	0	0	0	0	0	0	1	0	780	405	14	4	770	4	APOA1	11	116708059	Splice_Site	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	51397425	116708059	18298457	73	4166											
TIRAP	114609	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	126162546	126162546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgacagtggcagtagtcGctggagcaaagactatgacg	12	7	15	7	2	0	3	0	2	0	1	1	5	0	4	0	2	1	4	0	2	3	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr11:126162546G>A	ENST00000392680.2	+	5	647	c.242G>A	c.(241-243)cGc>cAc	p.R81H	TIRAP_ENST00000392679.1_Missense_Mutation_p.R81H|RP11-712L6.5_ENST00000528876.1_5'Flank|RP11-712L6.7_ENST00000533378.1_RNA|TIRAP_ENST00000392678.3_Missense_Mutation_p.R81H	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	81					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|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 tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		GGCAGTAGTCGCTGGAGCAAA	0.612																																					p.R81H													TIRAP_ENST00000392678,NS,carcinoma,+1,3	TIRAP	37	3	0			c.G242A												82	67	72					11																	126162546		2201	4297	6498	SO:0001583	missense	114609	exon5			GTAGTCGCTGGAG	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"MyD88 adapter-like"	606252	"Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.242G>A	11.37:g.126162546G>A	ENSP00000376447:p.Arg81His		87	0	0		66	0.09	6	NM_148910	4	0.25	1	B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP	ENST00000392680.2	37	CCDS8472.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486171	0.84854	.	.	ENSG00000150455	ENST00000392679;ENST00000279992;ENST00000392678;ENST00000392680	T;T;T	0.02472	4.28;4.28;4.28	5.41	5.41	0.78517	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.059532	0.64402	D	0.000006	T	0.15046	0.0363	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.01440	-1.1354	10	0.32370	T	0.25	-0.0428	19.1929	0.93674	0.0:0.0:1.0:0.0	.	81;81	P58753;Q56UH9	TIRAP_HUMAN;.	H	81	ENSP00000376446:R81H;ENSP00000376445:R81H;ENSP00000376447:R81H	ENSP00000279992:R81H	R	+	2	0	TIRAP	125667756	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.706000	0.84615	2.523000	0.85059	0.655000	0.94253	CGC			0.612	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000277092.1		NM_148910		A	126162546	G	A	126162546	3	1	58	1	0	0	0	0	1	0	0	0	15950	1087	38	1	248	1	TIRAP	11	126162546	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	9454487	126162546	8843970	74	4167											
KLRC4	8302	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	10562068	10562068	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctacttggaatatttccTgtttggttcctgaaatggag	9	17	9	6	0	1	1	0	1	1	0	3	3	3	3	2	3	1	2	2	3	4	7			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr12:10562068T>G	ENST00000309384.1	-	1	288	c.107A>C	c.(106-108)cAg>cCg	p.Q36P	KLRC4-KLRK1_ENST00000539300.1_Silent_p.T27T	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	36					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GAATATTTCCTGTTTGGTTCC	0.388																																					p.Q36P													KLRC4,NS,carcinoma,-1,1	KLRC4	23	1	0			c.A107C												221	213	215					12																	10562068		2202	4300	6502	SO:0001583	missense	8302	exon1			ATTTCCTGTTTGG	U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"Killer cell lectin-like receptors"	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.107A>C	12.37:g.10562068T>G	ENSP00000310216:p.Gln36Pro		246	0	0		538	0.03	17	NM_013431	1	0	0	O60851	Missense_Mutation	SNP	ENST00000309384.1	37	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.325955	0.41197	.	.	ENSG00000183542	ENST00000309384	T	0.10005	2.92	3.78	2.57	0.30868	.	0.425163	0.20355	N	0.093978	T	0.21881	0.0527	M	0.84773	2.715	0.09310	N	1	P	0.51791	0.948	P	0.49999	0.628	T	0.09465	-1.0673	10	0.72032	D	0.01	.	6.8039	0.23766	0.2075:0.0:0.0:0.7925	.	36	O43908	NKG2F_HUMAN	P	36	ENSP00000310216:Q36P	ENSP00000310216:Q36P	Q	-	2	0	KLRC4	10453335	0.001000	0.12720	0.009000	0.14445	0.008000	0.06430	0.428000	0.21395	0.544000	0.28883	0.377000	0.23210	CAG			0.388	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400108.1		NM_013431		G	10562068	T	G	10562068	3	3	58	1	0	0	0	0	1	0	0	0	8433	1580	55	4	385	4	KLRC4	12	10562068	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10		10562068	123289827	75	4168											
DDX11	1663	ucsc.edu	37	chr12	31254052	31254052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgttccagaaaagagaGctgcctcagatggtcagtcc	11	9	10	11	1	3	3	3	0	0	3	5	4	5	3	3	1	2	2	3	1	2	2	rs201027785	byFrequency	TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr12:31254052G>C	ENST00000407793.2	+	20	2291	c.2040G>C	c.(2038-2040)gaG>gaC	p.E680D	DDX11_ENST00000542838.1_Missense_Mutation_p.E680D|DDX11_ENST00000228264.6_Missense_Mutation_p.E654D|DDX11_ENST00000350437.4_Missense_Mutation_p.E680D|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.E680D	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	680					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGAAAAGAGAGCTGCCTCAGA	0.612										Multiple Myeloma(12;0.14)			G|||	11	0.00219649	0.0015	0.0101	5008	,	,		17144	0		0.001	False		,,,				2504	0.001				p.E680D													.	DDX11	188		0			c.G2040C												56	62	60					12																	31254052		2203	4300	6503	SO:0001583	missense	1663	exon20			AAGAGAGCTGCCT	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2040G>C	12.37:g.31254052G>C	ENSP00000384703:p.Glu680Asp		88	0	0		121	0.01	1	NM_030653	167	0.13	22	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	149	0.06822344322344322	30	0.06097560975609756	20	0.055248618784530384	39	0.06818181818181818	60	0.079155672823219	G	3.714	-0.058844	0.07317	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.78003	-0.56;-0.55;-0.56;-0.55;-1.14	3.75	0.575	0.17374	.	0.161338	0.53938	D	0.000051	T	0.05044	0.0135	.	.	.	0.80722	D	1	B;B;B;B	0.15141	0.012;0.006;0.002;0.012	B;B;B;B	0.13407	0.009;0.003;0.004;0.009	T	0.02437	-1.1159	9	0.13470	T	0.59	.	2.3945	0.04386	0.112:0.3585:0.3457:0.1839	.	654;680;680;680	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	D	680;680;405;654;680;680	ENSP00000443426:E680D;ENSP00000384703:E680D;ENSP00000228264:E654D;ENSP00000440402:E680D;ENSP00000309965:E680D	ENSP00000228264:E654D	E	+	3	2	DDX11	31145319	0.402000	0.25311	0.969000	0.41365	0.258000	0.26162	0.027000	0.13621	0.748000	0.32831	0.597000	0.82753	GAG			0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653		C	31254052	G	C	31254052	3	2	58	1	0	0	0	0	1	0	0	0	4345	962	34	5	2114	5	DDX11	12	31254052	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	20691984	31254052	102597843	76	4169											
TXNRD1	7296	hgsc.bcm.edu;broad.mit.edu	37	chr12	104709560	104709560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgttgttgtaggtctcGgaggaacatgtgtgaatgtg	9	14	14	4	1	2	1	1	1	1	0	3	3	2	3	0	3	1	3	0	3	4	3	rs370602169		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr12:104709560G>A	ENST00000529546.1	+	4	277	c.52G>A	c.(52-54)Gga>Aga	p.G18R	TXNRD1_ENST00000524698.1_Missense_Mutation_p.G56R|TXNRD1_ENST00000378070.4_Missense_Mutation_p.G155R|TXNRD1_ENST00000388854.3_Missense_Mutation_p.G108R|TXNRD1_ENST00000542918.1_Missense_Mutation_p.G106R|TXNRD1_ENST00000427956.1_Missense_Mutation_p.G171R|TXNRD1_ENST00000503506.2_Missense_Mutation_p.G56R|TXNRD1_ENST00000429002.2_Missense_Mutation_p.G206R|TXNRD1_ENST00000354940.6_Missense_Mutation_p.G56R|TXNRD1_ENST00000525566.1_Missense_Mutation_p.G206R|TXNRD1_ENST00000540716.1_Missense_Mutation_p.G18R|TXNRD1_ENST00000526691.1_Missense_Mutation_p.G108R|TXNRD1_ENST00000526950.1_Missense_Mutation_p.G125R|TXNRD1_ENST00000397736.2_Missense_Mutation_p.G100R|TXNRD1_ENST00000526390.1_Missense_Mutation_p.G100R			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	206					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)	TGTAGGTCTCGGAGGAACATG	0.378																																					.	Ovarian(139;555 1836 9186 9946 10884)												.	.			0			.							G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,3774		0,0,1887	107	101	103		616,322,166,166,166	5.8	1	12		103	1,8251		0,1,4125	no	missense,missense,missense,missense,missense	TXNRD1	NM_001093771.1,NM_003330.2,NM_182729.1,NM_182742.1,NM_182743.1	125,125,125,125,125	0,1,6012	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	206/650,108/552,56/500,56/500,56/500	104709560	1,12025	1887	4126	6013	SO:0001583	missense	7296	.			GGTCTCGGAGGAA		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		ENST00000529546.1:c.52G>A	12.37:g.104709560G>A	ENSP00000434919:p.Gly18Arg		140	0	0		95	0.04	4	.	242	0.07	18	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378021	0.95945	0.0	1.21E-4	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526266;ENST00000503506;ENST00000526691;ENST00000531691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000531689;ENST00000529546;ENST00000540716;ENST00000526580;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56444	0.68;0.68;0.46;0.68;0.68;0.46;0.68;0.68;0.68;0.46;0.68;0.68;0.46;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.81	5.81	0.92471	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87285	0.6139	H	0.99894	4.905	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	0.93060	0.6473	10	0.87932	D	0	-24.204	20.1336	0.98010	0.0:0.0:1.0:0.0	.	106;100;206;108;56;206;171	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	R	206;206;56;56;108;100;108;56;100;56;18;18;56;56;106;155;56;100;171;125	ENSP00000434516:G206R;ENSP00000412045:G206R;ENSP00000431294:G56R;ENSP00000421934:G56R;ENSP00000435929:G108R;ENSP00000431925:G100R;ENSP00000373506:G108R;ENSP00000347020:G56R;ENSP00000435123:G100R;ENSP00000433507:G56R;ENSP00000434919:G18R;ENSP00000442709:G18R;ENSP00000433887:G56R;ENSP00000433425:G56R;ENSP00000440978:G106R;ENSP00000367310:G155R;ENSP00000433599:G56R;ENSP00000380844:G100R;ENSP00000393328:G171R;ENSP00000432812:G125R	ENSP00000347020:G56R	G	+	1	0	TXNRD1	103233690	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	9.707000	0.98725	2.754000	0.94517	0.650000	0.86243	GGA			0.378	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding		OTTHUMT00000389969.1		NM_003330		A	104709560	G	A	104709560	3	1	58	1	0	0	0	0	1	0	0	0	16831	1117	39	1	656	1	TXNRD1	12	104709560	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	73455508	104709560	29142335	77	4170											
CUX2	23316	mdanderson.org	37	chr12	111779749	111779749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagaaggaggcactgcGgaaggcctatcagctggaac	12	4	16	9	2	1	1	1	0	0	1	1	6	1	4	1	6	3	2	1	6	4	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr12:111779749G>T	ENST00000261726.6	+	21	3705	c.3551G>T	c.(3550-3552)cGg>cTg	p.R1184L	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1184					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGCACTGCGGAAGGCCTAT	0.627																																					p.R1184L													.	.			0			c.G3551T												65	80	75					12																	111779749		2180	4297	6477	SO:0001583	missense	23316	exon21			CACTGCGGAAGGC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3551G>T	12.37:g.111779749G>T	ENSP00000261726:p.Arg1184Leu		164	0	0		124	0.04	5	NM_015267	6	0	0	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027192	0.54683	.	.	ENSG00000111249	ENST00000261726	D	0.96168	-3.93	5.1	2.92	0.33932	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.151653	0.53938	D	0.000049	D	0.92701	0.7680	M	0.66297	2.02	0.54753	D	0.999981	B	0.11235	0.004	B	0.23852	0.049	D	0.88726	0.3233	10	0.56958	D	0.05	-17.3874	4.297	0.10906	0.5637:0.0:0.4363:0.0	.	1184	O14529	CUX2_HUMAN	L	1184	ENSP00000261726:R1184L	ENSP00000261726:R1184L	R	+	2	0	CUX2	110264132	1.000000	0.71417	0.754000	0.31244	0.991000	0.79684	3.103000	0.50298	1.084000	0.41184	0.462000	0.41574	CGG			0.627	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404765.1		NM_015267		T	111779749	G	T	111779749	3	4	58	1	0	0	0	0	1	0	0	0	4067	1116	39	1	3633	1	CUX2	12	111779749	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	7070189	111779749	22072146	78	4171											
SH2B3	10019	hgsc.bcm.edu	37	chr12	111886037	111886037	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatcgagcccgggactcGgactacgaaatggactcatc	11	7	12	11	4	1	1	1	1	0	0	4	6	1	4	1	3	2	0	1	3	3	1	rs369151728		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr12:111886037G>T	ENST00000341259.2	+	8	2016	c.1659G>T	c.(1657-1659)tcG>tcT	p.S553S	SH2B3_ENST00000538307.1_Silent_p.S351S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	553					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)	p.S553S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	CCCGGGACTCGGACTACGAAA	0.602																																					p.S553S													SH2B3,rectum,carcinoma,0,1	SH2B3	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G1659T												86	102	97					12																	111886037		2203	4300	6503	SO:0001819	synonymous_variant	10019	exon8			GGACTCGGACTAC	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.1659G>T	12.37:g.111886037G>T			112	0	0		71	0.04	3	NM_005475	60	0	0	B9EGG5|O95184	Silent	SNP	ENST00000341259.2	37	CCDS9153.1																																																																																					0.602	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000404779.1		NM_005475		T	111886037	G	T	111886037	2	4	58	1	0	0	0	0	0	0	0	1	14252	1103	39	1		1	SH2B3	12	111886037	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	106288	111886037	21965858	79	4172											
TMEM132D	121256	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	130184360	130184360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaacgacttacctcaaCgtgaagcgatcttcagtgga	12	9	11	9	3	3	1	2	1	1	0	3	5	3	3	1	2	4	0	1	2	4	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr12:130184360C>T	ENST00000422113.2	-	2	1289	c.963G>A	c.(961-963)acG>acA	p.T321T	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	321					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)		CTTACCTCAACGTGAAGCGAT	0.493																																					p.T321T													.	TMEM132D	299		0			c.G963A												104	93	97					12																	130184360		2203	4300	6503	SO:0001819	synonymous_variant	121256	exon2			CCTCAACGTGAAG	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.963G>A	12.37:g.130184360C>T			234	0.0042735043	1		197	0.09	18	NM_133448	1	1	1	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																					0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399592.1		NM_133448		T	130184360	C	T	130184360	2	4	58	1	0	0	0	0	0	0	0	1	16070	523	19	1		1	TMEM132D	12	130184360	Silent	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	18298323	130184360	3667535	80	4173											
GPC6	10082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	94680124	94680124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggcaaatcaggctgacctcGacacagagtggaatctgttt	11	10	11	9	1	2	2	1	1	1	1	3	4	2	3	1	3	0	3	1	3	2	1	rs201329039		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr13:94680124G>C	ENST00000377047.4	+	4	1468	c.853G>C	c.(853-855)Gac>Cac	p.D285H	RNA5SP35_ENST00000391257.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	285					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)				GGCTGACCTCGACACAGAGTG	0.512																																					p.D285H													.	.			0			c.G853C												125	115	118					13																	94680124		2203	4300	6503	SO:0001583	missense	10082	exon4			GACCTCGACACAG	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.853G>C	13.37:g.94680124G>C	ENSP00000366246:p.Asp285His		98	0	0		70	0.11	8	NM_005708	2	0	0	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305877	0.81247	.	.	ENSG00000183098	ENST00000377047	T	0.60040	0.22	5.79	5.79	0.91817	.	0.060806	0.64402	D	0.000005	D	0.82426	0.5034	M	0.91818	3.245	0.52099	D	0.999947	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.85372	0.1114	10	0.72032	D	0.01	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	285;285	B4E2M1;Q9Y625	.;GPC6_HUMAN	H	285	ENSP00000366246:D285H	ENSP00000366246:D285H	D	+	1	0	GPC6	93478125	1.000000	0.71417	0.989000	0.46669	0.870000	0.49936	6.750000	0.74888	2.740000	0.93945	0.561000	0.74099	GAC			0.512	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045460.4		NM_005708		C	94680124	G	C	94680124	3	2	58	1	0	0	0	0	1	0	0	0	6616	1058	37	5	867	5	GPC6	13	94680124	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		94680124	20489754	81	4174											
SETD3	84193	hgsc.bcm.edu;broad.mit.edu	37	chr14	99879294	99879294	+	Frame_Shift_Del	DEL	G	G	-																															gaagaggtcgttaccaggccGttggtgtggttacacatatc																								rs201395609		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr14:99879294delG	ENST00000331768.5	-	8	1002	c.843delC	c.(841-843)aacfs	p.N281fs	SETD3_ENST00000436070.2_Frame_Shift_Del_p.N281fs|SETD3_ENST00000329331.3_Frame_Shift_Del_p.N281fs	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	281	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTACCAGGCCGTTGGTGTGGT	0.512																																					p.G282fs													.	SETD3	56		0			c.844delG												145	128	133					14																	99879294		2203	4300	6503	SO:0001589	frameshift_variant	84193	exon8			CAGGCCGTTGGTG	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.843delC	14.37:g.99879294delG	ENSP00000327436:p.Asn281fs		150	0	0		154	0.1	15	NM_199123	90	0.01	1	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Frame_Shift_Del	DEL	ENST00000331768.5	37	CCDS9951.1																																																																																					0.512	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000072339.3		NM_032233		-	99879294	G	-	99879294	7	5	58	1	0	1	0	1	0	0	0	0	14155	1136	40	0	1011	0	SETD3	14	99879294	Frame_Shift_Del	DEL	G	TCGA-2G-AAKH-01A-11D-A42Y-10		99879294	7470246	82	4175											
AMN	81693	mdanderson.org	37	chr14	103389038	103389038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggcgagatgggcgtcctgGgccgggtcctgctgtggctg	3	8	20	10	3	0	1	0	0	0	1	2	3	2	1	3	5	1	2	3	5	0	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr14:103389038G>T	ENST00000299155.5	+	1	46	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	5					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGCGTCCTGGGCCGGGTCCT	0.721																																					p.G5C													.	.			0			c.G13T												32	24	27					14																	103389038		2187	4278	6465	SO:0001583	missense	81693	exon1			GTCCTGGGCCGGG	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.13G>T	14.37:g.103389038G>T	ENSP00000299155:p.Gly5Cys		37	0	0		23	0.13	3	NM_030943	1	0	0	Q6UX83	Missense_Mutation	SNP	ENST00000299155.5	37	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628495	0.28978	.	.	ENSG00000166126	ENST00000299155	D	0.89746	-2.56	2.97	0.632	0.17705	.	0.807745	0.11070	U	0.603008	D	0.91415	0.7291	L	0.56769	1.78	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.80970	-0.1144	10	0.41790	T	0.15	-10.9401	8.0668	0.30665	0.0:0.5005:0.4995:0.0	.	5	Q9BXJ7	AMNLS_HUMAN	C	5	ENSP00000299155:G5C	ENSP00000299155:G5C	G	+	1	0	AMN	102458791	0.399000	0.25287	0.440000	0.26846	0.086000	0.17979	1.183000	0.32041	0.488000	0.27723	0.484000	0.47621	GGC			0.721	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415704.1				T	103389038	G	T	103389038	3	4	58	1	0	0	0	0	1	0	0	0	580	1232	43	3	15	3	AMN	14	103389038	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	3509744	103389038	3960502	83	4176											
MAPK6	5597	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	52353621	52353621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgagccaatttcaagccatCcttttcatattgaagatgaa	14	13	6	8	0	2	4	2	3	0	1	3	4	3	4	3	0	2	0	3	0	5	5			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr15:52353621C>T	ENST00000261845.5	+	5	1798	c.991C>T	c.(991-993)Cct>Tct	p.P331S	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	331					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TTCAAGCCATCCTTTTCATAT	0.363																																					p.P331S													.	MAPK6	70		0			c.C991T												113	100	104					15																	52353621		2195	4293	6488	SO:0001583	missense	5597	exon5			AGCCATCCTTTTC	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.991C>T	15.37:g.52353621C>T	ENSP00000261845:p.Pro331Ser		230	0.0043478261	1		176	0.27	47	NM_002748	56	0.5	28	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243338	0.95272	.	.	ENSG00000069956	ENST00000261845	T	0.72725	-0.68	5.13	5.13	0.70059	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	D	0.83431	0.0038	10	0.87932	D	0	-11.2854	18.5662	0.91118	0.0:1.0:0.0:0.0	.	331	Q16659	MK06_HUMAN	S	331	ENSP00000261845:P331S	ENSP00000261845:P331S	P	+	1	0	MAPK6	50140913	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.399000	0.81585	0.585000	0.79938	CCT			0.363	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254841.2		NM_002748		T	52353621	C	T	52353621	3	4	58	1	0	0	0	0	1	0	0	0	9297	855	30	3	1005	3	MAPK6	15	52353621	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10		52353621	50177771	84	4177											
DENND4A	10260	mdanderson.org	37	chr15	66021978	66021978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgtcacagcattttcaGggcctaaattctgcagtagt	10	13	10	8	0	3	0	2	0	1	0	3	0	3	0	1	1	2	4	1	1	4	6			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr15:66021978G>T	ENST00000431932.2	-	10	1413	c.1205C>A	c.(1204-1206)cCt>cAt	p.P402H	DENND4A_ENST00000443035.3_Missense_Mutation_p.P402H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	402	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGCATTTTCAGGGCCTAAATT	0.363																																					p.P402H													.	.			0			c.C1205A												57	51	53					15																	66021978		1865	4098	5963	SO:0001583	missense	10260	exon10			TTTTCAGGGCCTA	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1205C>A	15.37:g.66021978G>T	ENSP00000396830:p.Pro402His		62	0	0		35	0.09	3	NM_005848	4	0	0	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768284	0.90020	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.12465	2.68;2.68	5.57	5.57	0.84162	DENN (3);	0.104467	0.64402	D	0.000002	T	0.42108	0.1188	M	0.79343	2.45	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.80764	0.967;0.994;0.991	T	0.31641	-0.9936	10	0.87932	D	0	.	19.5378	0.95262	0.0:0.0:1.0:0.0	.	402;402;402	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	H	402	ENSP00000391167:P402H;ENSP00000396830:P402H	ENSP00000396830:P402H	P	-	2	0	DENND4A	63809032	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.619000	0.88677	0.650000	0.86243	CCT			0.363	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419611.1		NM_005848		T	66021978	G	T	66021978	3	4	58	1	0	0	0	0	1	0	0	0	4438	1000	35	3	4611	3	DENND4A	15	66021978	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	13668357	66021978	36509414	85	4178											
SMAD6	4091	broad.mit.edu;mdanderson.org	37	chr15	67073787	67073787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgtccgcatcagcttcGccaagggctgggggccctgc	6	6	14	15	3	1	0	1	0	0	0	3	0	2	0	3	3	3	3	3	3	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr15:67073787G>T	ENST00000288840.5	+	4	2436	c.1405G>T	c.(1405-1407)Gcc>Tcc	p.A469S	SMAD6_ENST00000338426.4_Missense_Mutation_p.A208S	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	469	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CATCAGCTTCGCCAAGGGCTG	0.692																																					p.A469S	Esophageal Squamous(179;72 2004 22333 39628 47290)												.	SMAD6	14		0			c.G1405T												11	15	14					15																	67073787		2161	4256	6417	SO:0001583	missense	4091	exon4			AGCTTCGCCAAGG	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"SMADs"	6772	protein-coding gene	gene with protein product		602931	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)", "SMAD, mothers against DPP homolog 6 (Drosophila)"	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1405G>T	15.37:g.67073787G>T	ENSP00000288840:p.Ala469Ser		27	0	0		28	0.11	3	NM_005585	30	0	0	A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Missense_Mutation	SNP	ENST00000288840.5	37	CCDS10221.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081605	0.94050	.	.	ENSG00000137834	ENST00000288840;ENST00000338426	D;D	0.98822	-5.16;-4.42	5.71	5.71	0.89125	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.99716	1.1008	10	0.72032	D	0.01	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	208;469	O43541-2;O43541	.;SMAD6_HUMAN	S	469;208	ENSP00000288840:A469S;ENSP00000345054:A208S	ENSP00000288840:A469S	A	+	1	0	SMAD6	64860841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.741000	0.98843	2.698000	0.92095	0.561000	0.74099	GCC			0.692	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256953.2		NM_005585		T	67073787	G	T	67073787	3	4	58	1	0	0	0	0	1	0	0	0	14785	1087	38	1	1457	1	SMAD6	15	67073787	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	1051809	67073787	35457605	86	4179											
HCN4	10021	ucsc.edu	37	chr15	73617654	73617654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctcccgcaggggctcGcttagctcgcccaggatgct	5	8	11	17	3	1	0	1	0	0	0	4	1	2	1	3	3	2	5	3	3	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr15:73617654G>A	ENST00000261917.3	-	5	2715	c.1722C>T	c.(1720-1722)agC>agT	p.S574S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	574					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCAGGGGCTCGCTTAGCTCGC	0.677																																					p.S574S													.	HCN4	150		0			c.C1722T												41	46	44					15																	73617654		2198	4297	6495	SO:0001819	synonymous_variant	10021	exon5			GGGCTCGCTTAGC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1722C>T	15.37:g.73617654G>A			87	0	0		58	0.07	4	NM_005477	1	0	0	Q9UMQ7	Silent	SNP	ENST00000261917.3	37	CCDS10248.1																																																																																					0.677	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268900.2		NM_005477		A	73617654	G	A	73617654	2	1	58	1	0	0	0	0	0	0	0	1	7014	1078	38	1		1	HCN4	15	73617654	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	6543867	73617654	28913738	87	4180											
STRA6	64220	broad.mit.edu	37	chr15	74476264	74476264	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatggcttggcgggagggAtggggactccgatgcaaggg	9	7	19	6	2	0	0	0	0	0	0	1	4	1	3	1	7	1	2	1	7	3	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr15:74476264A>G	ENST00000323940.5	-	14	1478	c.1233T>C	c.(1231-1233)caT>caC	p.H411H	STRA6_ENST00000449139.2_Silent_p.H411H|STRA6_ENST00000423167.2_Silent_p.H402H|STRA6_ENST00000535552.1_Silent_p.H448H|STRA6_ENST00000563965.1_Silent_p.H450H|STRA6_ENST00000574278.1_Silent_p.H426H|STRA6_ENST00000395105.4_Silent_p.H411H|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Silent_p.H403H	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	411					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						GGCGGGAGGGATGGGGACTCC	0.617																																					p.H450H													.	STRA6	66		0			c.T1350C												97	84	88					15																	74476264		2198	4297	6495	SO:0001819	synonymous_variant	64220	exon14			GGAGGGATGGGGA	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.1233T>C	15.37:g.74476264A>G			97	0.1340206186	13		89	0.16	14	NM_001199042	12	0	0	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	ENST00000323940.5	37	CCDS10261.1																																																																																					0.617	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272891.1				G	74476264	A	G	74476264	2	3	58	1	0	0	0	0	0	0	0	1	15345	330	12	4		4	STRA6	15	74476264	Silent	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	858610	74476264	28055128	88	4181											
TARSL2	123283	mdanderson.org	37	chr15	102264363	102264363	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcggctccgctcctcGgcgaggcacagccgcaggct	4	5	15	17	5	0	0	0	0	0	0	3	1	2	0	4	5	1	5	4	5	0	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr15:102264363G>T	ENST00000335968.3	-	1	444	c.228C>A	c.(226-228)gcC>gcA	p.A76A		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	76					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	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)			TCCGCTCCTCGGCGAGGCACA	0.756																																					p.A76A													.	.			0			c.C228A												2	2	2					15																	102264363		1378	3033	4411	SO:0001819	synonymous_variant	123283	exon1			CTCCTCGGCGAGG	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.228C>A	15.37:g.102264363G>T			13	0	0		11	0.18	2	NM_152334	4	0	0	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Silent	SNP	ENST00000335968.3	37	CCDS10394.1																																																																																					0.756	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313619.3		NM_152334		T	102264363	G	T	102264363	2	4	58	1	0	0	0	0	0	0	0	1	15584	1103	39	1		1	TARSL2	15	102264363	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	27788099	102264363	267029	89	4182											
RHBDF1	64285	mdanderson.org	37	chr16	110496	110496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccgcaagctctggggcGctgggatggatgggccactt	5	8	17	11	2	1	0	0	0	1	0	1	2	1	2	2	6	1	3	2	6	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr16:110496G>T	ENST00000262316.6	-	12	1741	c.1599C>A	c.(1597-1599)agC>agA	p.S533R		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	533					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCTCTGGGGCGCTGGGATGGA	0.632																																					p.S533R													.	.			0			c.C1599A												68	66	66					16																	110496		2203	4300	6503	SO:0001583	missense	64285	exon12			TGGGGCGCTGGGA	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1599C>A	16.37:g.110496G>T	ENSP00000262316:p.Ser533Arg		14	0	0		14	0.14	2	NM_022450	64	0	0	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	16.07	3.019827	0.54576	.	.	ENSG00000007384	ENST00000262316	T	0.43688	0.94	5.38	-8.76	0.00830	.	0.000000	0.85682	D	0.000000	T	0.23965	0.0580	N	0.14661	0.345	0.80722	D	1	P	0.39282	0.666	B	0.38264	0.269	T	0.33523	-0.9865	10	0.66056	D	0.02	-16.7836	19.7037	0.96065	0.2391:0.0:0.7609:0.0	.	533	Q96CC6	RHDF1_HUMAN	R	533	ENSP00000262316:S533R	ENSP00000262316:S533R	S	-	3	2	RHBDF1	50496	0.991000	0.36638	0.581000	0.28614	0.713000	0.41058	0.265000	0.18515	-1.896000	0.01102	-1.105000	0.02106	AGC			0.632	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000134178.2		NM_022450		T	110496	G	T	110496	3	4	58	1	0	0	0	0	1	0	0	0	13342	1078	38	1	996	1	RHBDF1	16	110496	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		110496	90244257	90	4183											
TELO2	9894	mdanderson.org	37	chr16	1559886	1559886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgctggcactgagggccctGctgcttctgcagagactcaa	8	8	12	13	1	2	2	1	1	1	1	2	3	2	2	1	2	3	5	1	2	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr16:1559886G>A	ENST00000262319.6	+	21	2742	c.2463G>A	c.(2461-2463)ctG>ctA	p.L821L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	821					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGAGGGCCCTGCTGCTTCTGC	0.657																																					p.L821L													.	.			0			c.G2463A												56	54	54					16																	1559886		2198	4297	6495	SO:0001819	synonymous_variant	9894	exon21			GGCCCTGCTGCTT	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2463G>A	16.37:g.1559886G>A			62	0	0		46	0.07	3	NM_016111	156	0	0	D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	CCDS32363.1																																																																																					0.657	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103602.2		NM_016111		A	1559886	G	A	1559886	2	1	58	1	0	0	0	0	0	0	0	1	15780	1306	46	2		2	TELO2	16	1559886	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	1449390	1559886	88794867	91	4184											
CLN3	1201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	28488916	28488916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccagtgtgtcagagatgCaggtggccgccattgcaaac	9	8	12	12	1	1	1	1	0	0	1	2	2	2	1	4	2	3	2	4	2	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr16:28488916C>T	ENST00000569430.1	-	17	2057	c.1238G>A	c.(1237-1239)tGc>tAc	p.C413Y	CLN3_ENST00000535392.1_Missense_Mutation_p.C335Y|CLN3_ENST00000567963.1_Missense_Mutation_p.C316Y|CLN3_ENST00000354630.5_Missense_Mutation_p.C396Y|CLN3_ENST00000359984.7_Missense_Mutation_p.C413Y|CLN3_ENST00000568224.1_Missense_Mutation_p.C335Y|CLN3_ENST00000360019.2_Missense_Mutation_p.C413Y|CLN3_ENST00000357857.9_Missense_Mutation_p.C359Y|CLN3_ENST00000395653.4_Missense_Mutation_p.C313Y|CLN3_ENST00000357806.7_Missense_Mutation_p.C314Y|CLN3_ENST00000355477.5_Missense_Mutation_p.C365Y|CLN3_ENST00000565316.1_Missense_Mutation_p.C396Y|CLN3_ENST00000333496.9_Missense_Mutation_p.C389Y			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	413					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GTCAGAGATGCAGGTGGCCGC	0.622																																					p.C413Y													.	.			0			c.G1238A												71	73	72					16																	28488916		2197	4300	6497	SO:0001583	missense	1201	exon16			GAGATGCAGGTGG	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.1238G>A	16.37:g.28488916C>T	ENSP00000454229:p.Cys413Tyr		113	0	0		79	0.06	5	NM_001042432	260	0.16	42	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.869189	0.51588	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806	D;D;D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	5.05	5.05	0.67936	Major facilitator superfamily domain, general substrate transporter (1);	0.221015	0.45606	D	0.000347	D	0.97648	0.9229	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.987;0.998;0.999;0.999;0.972;0.977;0.982;0.982	D	0.97462	1.0035	10	0.40728	T	0.16	-10.3451	15.8954	0.79329	0.0:1.0:0.0:0.0	.	389;396;311;313;359;365;413;314	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	Y	335;413;413;396;365;359;313;314	ENSP00000443221:C335Y;ENSP00000353073:C413Y;ENSP00000353116:C413Y;ENSP00000346650:C396Y;ENSP00000347660:C365Y;ENSP00000350523:C359Y;ENSP00000379014:C313Y;ENSP00000350457:C314Y	ENSP00000346650:C396Y	C	-	2	0	CLN3	28396417	1.000000	0.71417	0.968000	0.41197	0.269000	0.26545	4.560000	0.60802	2.345000	0.79718	0.561000	0.74099	TGC			0.622	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214115.2				T	28488916	C	T	28488916	3	4	58	1	0	0	0	0	1	0	0	0	3545	710	25	2	82	2	CLN3	16	28488916	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	26929030	28488916	61865837	92	4185											
RABEP2	79874	broad.mit.edu	37	chr16	28935747	28935747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggatggcctgcagcgagGccacctcctcttggcactgc	6	8	12	15	1	2	0	1	0	1	0	3	2	3	1	4	4	3	2	4	4	0	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr16:28935747G>A	ENST00000358201.4	-	2	839	c.251C>T	c.(250-252)gCc>gTc	p.A84V	RABEP2_ENST00000544477.1_Intron|RABEP2_ENST00000357573.6_Missense_Mutation_p.A84V|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	84					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						CTGCAGCGAGGCCACCTCCTC	0.617																																					p.A84V	Pancreas(66;639 1284 10093 31061 49099)												.	RABEP2	48		0			c.C251T												49	52	51					16																	28935747		2116	4242	6358	SO:0001583	missense	79874	exon2			AGCGAGGCCACCT	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.251C>T	16.37:g.28935747G>A	ENSP00000350934:p.Ala84Val		60	0	0		69	0.04	3	NM_024816	22	0	0		Missense_Mutation	SNP	ENST00000358201.4	37	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900400	0.72754	.	.	ENSG00000177548	ENST00000358201;ENST00000357573	T;T	0.53857	0.62;0.6	4.29	4.29	0.51040	Rabaptin coiled-coil domain (1);	0.137298	0.50627	D	0.000111	T	0.68769	0.3037	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.83275	0.994;0.99;0.996	T	0.72740	-0.4202	10	0.66056	D	0.02	-10.845	15.91	0.79467	0.0:0.0:1.0:0.0	.	84;84;84	Q9H5N1-2;Q49AT6;Q9H5N1	.;.;RABE2_HUMAN	V	84	ENSP00000350934:A84V;ENSP00000350186:A84V	ENSP00000350186:A84V	A	-	2	0	RABEP2	28843248	1.000000	0.71417	0.975000	0.42487	0.963000	0.63663	5.750000	0.68712	2.106000	0.64143	0.555000	0.69702	GCC			0.617	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000432691.1		NM_024816		A	28935747	G	A	28935747	3	1	58	1	0	0	0	0	1	0	0	0	12985	1203	42	2	1506	2	RABEP2	16	28935747	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	446831	28935747	61419006	93	4186											
ZNF319	57567	mdanderson.org	37	chr16	58031252	58031252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccccacttggcgtgcaCgggtgctgcagcagctccga	5	7	13	16	4	0	0	0	0	0	0	2	1	2	0	3	2	5	6	3	2	0	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr16:58031252C>T	ENST00000299237.2	-	2	1540	c.918G>A	c.(916-918)ccG>ccA	p.P306P	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	306					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						TTGGCGTGCACGGGTGCTGCA	0.672																																					p.P306P													.	.			0			c.G918A												34	34	34					16																	58031252		2198	4300	6498	SO:0001819	synonymous_variant	57567	exon2			CGTGCACGGGTGC	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.918G>A	16.37:g.58031252C>T			43	0	0		26	0.12	3	NM_020807	4	0	0	Q52LH8	Silent	SNP	ENST00000299237.2	37	CCDS32462.1																																																																																					0.672	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430317.1				T	58031252	C	T	58031252	2	4	58	1	0	0	0	0	0	0	0	1	17860	523	19	1		1	ZNF319	16	58031252	Silent	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	29095505	58031252	32323501	94	4187											
RLTPR	146206	mdanderson.org	37	chr16	67681206	67681206	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccctctgcttctcagagccTtgaggtctcagaacagattc	8	11	9	13	0	3	4	2	1	3	3	6	4	3	4	2	1	3	1	2	1	1	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr16:67681206T>A	ENST00000334583.6	+	10	1020	c.692T>A	c.(691-693)cTt>cAt	p.L231H	RLTPR_ENST00000545661.1_Missense_Mutation_p.L231H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	231					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCTCAGAGCCTTGAGGTCTCA	0.662																																					p.L231H													.	.			0			c.T692A												18	20	20					16																	67681206		2007	4188	6195	SO:0001583	missense	146206	exon10			AGAGCCTTGAGGT	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.692T>A	16.37:g.67681206T>A	ENSP00000334958:p.Leu231His		138	0	0		86	0.05	4	NM_001013838	5	0	0	B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389315	0.61956	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.53640	0.61;0.61	5.15	5.15	0.70609	.	0.362060	0.26210	N	0.025693	T	0.43366	0.1244	N	0.11201	0.11	0.29599	N	0.847846	D;D	0.76494	0.999;0.999	P;P	0.61592	0.846;0.891	T	0.40059	-0.9583	10	0.44086	T	0.13	-6.0904	9.6606	0.39952	0.1655:0.0:0.0:0.8345	.	231;231	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	231	ENSP00000334958:L231H;ENSP00000441481:L231H	ENSP00000334958:L231H	L	+	2	0	RLTPR	66238707	0.958000	0.32768	1.000000	0.80357	0.979000	0.70002	1.942000	0.40243	1.938000	0.56188	0.460000	0.39030	CTT			0.662	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000467858.1		NM_001013838		A	67681206	T	A	67681206	3	1	58	1	0	0	0	0	1	0	0	0	13417	1609	56	5	730	5	RLTPR	16	67681206	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	9649954	67681206	22673547	95	4188											
CIRH1A	84916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	69177275	69177275	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctaatgctgacgtgcagTccattgctgtagctgacgtg	7	12	12	10	3	0	2	0	2	0	0	2	2	1	2	1	0	4	6	1	0	2	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr16:69177275T>A	ENST00000314423.7	+	6	898	c.721T>A	c.(721-723)Tcc>Acc	p.S241T	CIRH1A_ENST00000563094.1_Missense_Mutation_p.S241T|CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.S241T			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	241					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)		TGACGTGCAGTCCATTGCTGT	0.517																																					p.S241T	Melanoma(69;1156 1278 4951 8715 52012)												.	.			0			c.T721A												176	130	145					16																	69177275		2198	4300	6498	SO:0001583	missense	84916	exon6			GTGCAGTCCATTG	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.721T>A	16.37:g.69177275T>A	ENSP00000327179:p.Ser241Thr		135	0	0		95	0.11	10	NM_032830	164	0.24	39	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	T	9.888	1.203331	0.22121	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.39406	1.38;1.08	5.51	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.226657	0.46145	D	0.000315	T	0.47002	0.1422	L	0.58583	1.82	0.39857	D	0.973323	D;B;B	0.57571	0.98;0.038;0.264	P;B;B	0.49922	0.626;0.009;0.055	T	0.50841	-0.8780	10	0.45353	T	0.12	.	11.9312	0.52847	0.0:0.0:0.1453:0.8547	.	241;241;241	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	T	241	ENSP00000327179:S241T;ENSP00000339164:S241T	ENSP00000327179:S241T	S	+	1	0	CIRH1A	67734776	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	3.609000	0.54117	2.082000	0.62665	0.533000	0.62120	TCC			0.517	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268950.2		NM_032830		A	69177275	T	A	69177275	3	1	58	1	0	0	0	0	1	0	0	0	3436	1667	58	5	739	5	CIRH1A	16	69177275	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	1496069	69177275	21177478	96	4189											
BCAR1	9564	mdanderson.org	37	chr16	75276786	75276786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggccggggccaggccctGctggcttcttatcatacatg	6	9	14	12	1	2	0	1	0	1	0	2	1	2	0	3	5	2	2	3	5	2	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr16:75276786G>A	ENST00000162330.5	-	2	341	c.215C>T	c.(214-216)gCa>gTa	p.A72V	BCAR1_ENST00000546196.1_Missense_Mutation_p.A43V|BCAR1_ENST00000393422.2_Missense_Mutation_p.A90V|BCAR1_ENST00000538440.2_Missense_Mutation_p.A72V|BCAR1_ENST00000418647.3_Missense_Mutation_p.A118V|BCAR1_ENST00000542031.2_Missense_Mutation_p.A70V|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.A90V|BCAR1_ENST00000393420.6_Missense_Mutation_p.A72V	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	72					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCAGGCCCTGCTGGCTTCTT	0.701																																					p.A118V													.	.			0			c.C353T												22	24	23					16																	75276786		2196	4298	6494	SO:0001583	missense	9564	exon3			GGCCCTGCTGGCT	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.215C>T	16.37:g.75276786G>A	ENSP00000162330:p.Ala72Val		26	0	0		25	0.12	3	NM_001170714	27	0	0	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810308	0.32053	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.97	1.39	0.22231	Src homology-3 domain (1);	1.777890	0.03871	N	0.275664	T	0.50394	0.1613	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.0;0.002;0.003;0.001;0.0;0.003;0.0	B;B;B;B;B;B;B	0.10450	0.001;0.002;0.003;0.004;0.001;0.005;0.001	T	0.22871	-1.0204	10	0.14252	T	0.57	-3.896	7.1464	0.25585	0.1769:0.1787:0.6444:0.0	.	90;118;70;72;90;72;72	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	V	72;90;90;72;118;72;70;43	ENSP00000162330:A72V;ENSP00000377074:A90V;ENSP00000392708:A90V;ENSP00000443841:A72V;ENSP00000391669:A118V;ENSP00000377072:A72V;ENSP00000440415:A70V;ENSP00000442161:A43V	ENSP00000162330:A72V	A	-	2	0	BCAR1	73834287	0.943000	0.32029	0.331000	0.25455	0.858000	0.48976	1.563000	0.36364	0.598000	0.29829	0.655000	0.94253	GCA			0.701	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000269017.1		NM_014567		A	75276786	G	A	75276786	3	1	58	1	0	0	0	0	1	0	0	0	1348	1319	46	2	2482	2	BCAR1	16	75276786	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	6099511	75276786	15077967	97	4190											
ZC3H18	124245	mdanderson.org	37	chr16	88664702	88664702	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaatggtgccccgcctctcGgacctcacccgctgatgccc	5	8	9	19	3	2	1	1	1	1	0	3	2	2	2	6	2	2	1	6	2	1	1	rs372349936		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr16:88664702G>T	ENST00000301011.5	+	4	1005	c.805G>T	c.(805-807)Gga>Tga	p.G269*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.G293*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	269	Pro-rich.					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)		CCCGCCTCTCGGACCTCACCC	0.532																																					p.G269X	Ovarian(121;375 2276 20373 38669)												.	.			0			c.G805T												75	78	77					16																	88664702		2198	4300	6498	SO:0001587	stop_gained	124245	exon4			CCTCTCGGACCTC	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.805G>T	16.37:g.88664702G>T	ENSP00000301011:p.Gly269*		69	0	0		44	0.07	3	NM_144604	70	0	0	Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	39	7.357789	0.98235	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-20.2009	17.3362	0.87282	0.0:0.0:1.0:0.0	.	.	.	.	X	269;293;293;152	.	ENSP00000289509:G293X	G	+	1	0	ZC3H18	87192203	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.010000	0.76353	2.517000	0.84864	0.462000	0.41574	GGA			0.532	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000269168.1		NM_144604		T	88664702	G	T	88664702	4	4	58	1	0	0	0	0	0	1	0	0	17591	1117	39	1	815	1	ZC3H18	16	88664702	Nonsense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	13387916	88664702	1690051	98	4191											
PIK3R5	23533	mdanderson.org	37	chr17	8808189	8808189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaaccggtggtaggtgctgGctgccttcagaaggagatcc	8	8	16	9	1	1	2	1	0	0	2	2	4	2	3	3	6	3	3	3	6	3	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr17:8808189G>A	ENST00000447110.1	-	5	441	c.317C>T	c.(316-318)gCc>gTc	p.A106V	PIK3R5_ENST00000584803.1_Missense_Mutation_p.A106V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A106V	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	106					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						GTAGGTGCTGGCTGCCTTCAG	0.542																																					p.A106V	NSCLC(18;589 615 7696 20311 50332)												.	.			0			c.C317T												122	107	112					17																	8808189		2203	4300	6503	SO:0001583	missense	23533	exon5			GTGCTGGCTGCCT	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.317C>T	17.37:g.8808189G>A	ENSP00000392812:p.Ala106Val		50	0	0		37	0.08	3	NM_001142633	13	0	0	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089398	0.36855	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T;T	0.77750	-1.12;-1.12	4.75	4.75	0.60458	.	0.573503	0.18393	N	0.142599	T	0.63640	0.2528	N	0.24115	0.695	0.26216	N	0.979239	B	0.13145	0.007	B	0.23018	0.043	T	0.49041	-0.8980	10	0.20046	T	0.44	-11.9387	10.6228	0.45489	0.0916:0.0:0.9084:0.0	.	106	Q8WYR1	PI3R5_HUMAN	V	106	ENSP00000269300:A106V;ENSP00000392812:A106V	ENSP00000269300:A106V	A	-	2	0	PIK3R5	8748914	0.949000	0.32298	1.000000	0.80357	0.991000	0.79684	1.972000	0.40540	2.369000	0.80426	0.644000	0.83932	GCC			0.542	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000227003.2		NM_014308		A	8808189	G	A	8808189	3	1	58	1	0	0	0	0	1	0	0	0	11939	1203	42	2	2385	2	PIK3R5	17	8808189	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		8808189	72387021	99	4192											
FBXW10	10517	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	18681824	18681824	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaaaaacaaggacaatTggaaactcctggaaaactgc	19	5	8	9	0	0	0	0	0	0	0	1	3	1	3	1	3	5	1	1	3	7	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr17:18681824T>A	ENST00000395665.4	+	14	2593	c.2372T>A	c.(2371-2373)tTg>tAg	p.L791*	TVP23B_ENST00000476139.1_5'Flank|TVP23B_ENST00000574226.1_5'Flank|FBXW10_ENST00000301938.4_Nonsense_Mutation_p.L738*|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000308799.4_Nonsense_Mutation_p.L800*|FBXW10_ENST00000395667.1_Nonsense_Mutation_p.L790*			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	791										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAAGGACAATTGGAAACTCCT	0.393																																					p.L791X													.	FBXW10	82		0			c.T2372A												44	40	41					17																	18681824		2200	4298	6498	SO:0001587	stop_gained	10517	exon14			GACAATTGGAAAC	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2372T>A	17.37:g.18681824T>A	ENSP00000379025:p.Leu791*		426	0	0		313	0.09	28	NM_001267585	0		0	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Nonsense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	37	6.073034	0.97256	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	.	.	.	4.04	1.7	0.24286	.	0.858235	0.09076	U	0.852005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6697	0.17715	0.0:0.2413:0.0:0.7587	.	.	.	.	X	790;800;738;791	.	ENSP00000306937:L738X	L	+	2	0	FBXW10	18622549	0.000000	0.05858	0.001000	0.08648	0.172000	0.22775	0.576000	0.23744	0.571000	0.29365	0.338000	0.21704	TTG			0.393	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313531.2		NM_031456		A	18681824	T	A	18681824	4	1	58	1	0	0	0	0	0	1	0	0	5776	1821	63	5	2423	5	FBXW10	17	18681824	Nonsense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	9873635	18681824	62513386	100	4193											
SLC5A10	125206	mdanderson.org	37	chr17	18880197	18880197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgatcactgtcagcccggGacctgaaccatgccaaggcg	10	5	12	14	3	2	1	2	1	0	0	2	3	2	2	4	2	4	0	4	2	2	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr17:18880197G>T	ENST00000395645.3	+	9	895	c.877G>T	c.(877-879)Gac>Tac	p.D293Y	SLC5A10_ENST00000317977.6_Missense_Mutation_p.D210Y|FAM83G_ENST00000585154.2_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.D293Y|FAM83G_ENST00000388995.6_Intron|SLC5A10_ENST00000395642.1_Missense_Mutation_p.D210Y|FAM83G_ENST00000345041.4_Intron|SLC5A10_ENST00000395643.2_Missense_Mutation_p.D266Y|SLC5A10_ENST00000417251.2_Missense_Mutation_p.D293Y	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	293					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GTCAGCCCGGGACCTGAACCA	0.612																																					p.D293Y													.	.			0			c.G877T												121	87	99					17																	18880197		2203	4300	6503	SO:0001583	missense	125206	exon9			GCCCGGGACCTGA		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.877G>T	17.37:g.18880197G>T	ENSP00000379007:p.Asp293Tyr		40	0	0		36	0.08	3	NM_001270649	2	0	0	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246912	0.80024	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.91180	-2.8;-2.29;-2.8;-2.33;-2.23;-2.37	5.97	2.3	0.28687	.	0.202617	0.50627	D	0.000108	D	0.92361	0.7576	M	0.75447	2.3	0.80722	D	1	P;P;P;P;P	0.50617	0.88;0.855;0.88;0.855;0.937	P;P;P;P;P	0.56163	0.793;0.69;0.793;0.69;0.785	D	0.91420	0.5158	10	0.87932	D	0	.	8.9875	0.36003	0.5687:0.0:0.4313:0.0	.	293;266;293;293;210	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	Y	210;293;210;293;293;266	ENSP00000324346:D210Y;ENSP00000379008:D293Y;ENSP00000379004:D210Y;ENSP00000401875:D293Y;ENSP00000379007:D293Y;ENSP00000379005:D266Y	ENSP00000324346:D210Y	D	+	1	0	SLC5A10	18820922	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.452000	0.44961	0.700000	0.31782	0.655000	0.94253	GAC			0.612	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132129.2		NM_152351		T	18880197	G	T	18880197	3	4	58	1	0	0	0	0	1	0	0	0	14685	1174	41	3	911	3	SLC5A10	17	18880197	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	198373	18880197	62315013	101	4194											
NOS2	4843	bcgsc.ca	37	chr17	26125770	26125770	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacattgttgttgatgtcTttttccccattcattgcata	7	19	5	10	0	2	1	1	1	1	0	4	1	4	1	3	0	1	3	3	0	1	8			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr17:26125770T>C	ENST00000313735.6	-	2	299	c.66A>G	c.(64-66)aaA>aaG	p.K22K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	22					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TGTTGATGTCTTTTTCCCCAT	0.498																																					p.K22K													.	NOS2	113		0			c.A66G												246	226	233					17																	26125770		2203	4300	6503	SO:0001819	synonymous_variant	4843	exon2			GATGTCTTTTTCC	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.66A>G	17.37:g.26125770T>C			188	0	0		165	0.04	6	NM_000625	0		0	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	CCDS11223.1																																																																																					0.498	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255597.1		NM_000625		C	26125770	T	C	26125770	2	2	58	1	0	0	0	0	0	0	0	1	10560	1606	56	4		4	NOS2	17	26125770	Silent	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	7245573	26125770	55069440	102	4195											
ZNF407	55628	mdanderson.org	37	chr18	72775889	72775889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccatggcctctcaggagcGggcacaggtggccttcaaga	9	6	14	12	1	2	1	2	0	1	1	3	2	2	2	3	5	2	1	3	5	1	1	rs201021175		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr18:72775889G>T	ENST00000299687.5	+	8	6212	c.6212G>T	c.(6211-6213)cGg>cTg	p.R2071L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2071					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)		TCTCAGGAGCGGGCACAGGTG	0.662																																					p.R2071L													.	.			0			c.G6212T												39	47	44					18																	72775889		2111	4225	6336	SO:0001583	missense	55628	exon8			AGGAGCGGGCACA	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.6212G>T	18.37:g.72775889G>T	ENSP00000299687:p.Arg2071Leu		63	0	0		38	0.08	3	NM_017757	11	0	0	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.328845	0.41197	.	.	ENSG00000215421	ENST00000299687	T	0.14893	2.47	4.42	3.55	0.40652	.	.	.	.	.	T	0.23926	0.0579	M	0.67953	2.075	0.38495	D	0.948089	P	0.47106	0.89	B	0.43155	0.41	T	0.23119	-1.0197	9	0.87932	D	0	.	12.4837	0.55859	0.0823:0.0:0.9177:0.0	.	2071	Q9C0G0	ZN407_HUMAN	L	2071	ENSP00000299687:R2071L	ENSP00000299687:R2071L	R	+	2	0	ZNF407	70904877	0.240000	0.23847	0.094000	0.20943	0.853000	0.48598	0.579000	0.23788	-2.976000	0.00284	0.462000	0.41574	CGG			0.662	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444903.1		NM_017757		T	72775889	G	T	72775889	3	4	58	1	0	0	0	0	1	0	0	0	17910	1116	39	1	6372	1	ZNF407	18	72775889	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		72775889	5301359	103	4196											
DENND1C	79958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	6476886	6476886	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtgctgagtttgctggcGgtgagcaggactcttctctc	5	12	14	10	2	2	2	0	2	2	0	4	3	2	3	0	4	3	4	0	4	0	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:6476886G>T	ENST00000381480.2	-	10	772	c.660C>A	c.(658-660)acC>acA	p.T220T	DENND1C_ENST00000543576.1_Silent_p.T176T|DENND1C_ENST00000591030.1_5'Flank	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	220	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTTTGCTGGCGGTGAGCAGGA	0.697																																					p.T220T													.	.			0			c.C660A												25	29	28					19																	6476886		1944	4130	6074	SO:0001819	synonymous_variant	79958	exon10			GCTGGCGGTGAGC	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.660C>A	19.37:g.6476886G>T			60	0	0		50	0.12	6	NM_024898	11	0	0	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Silent	SNP	ENST00000381480.2	37	CCDS45938.1																																																																																					0.697	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453332.2		NM_024898		T	6476886	G	T	6476886	2	4	58	1	0	0	0	0	0	0	0	1	4433	1103	39	1		1	DENND1C	19	6476886	Silent	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		6476886	52652097	104	4197											
MCOLN1	57192	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	7593728	7593728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtggggttcatgtggCggcagcggggacgggtcatc	5	10	19	7	3	2	0	2	0	0	0	3	1	2	1	0	7	1	3	0	7	0	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:7593728C>T	ENST00000264079.6	+	9	1131	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	336					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						GTTCATGTGGCGGCAGCGGGG	0.632																																					p.R336W													.	.			0			c.C1006T												52	49	50					19																	7593728		2203	4300	6503	SO:0001583	missense	57192	exon9			ATGTGGCGGCAGC	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.1006C>T	19.37:g.7593728C>T	ENSP00000264079:p.Arg336Trp		181	0	0		225	0.04	10	NM_020533	111	0.09	10	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049431	0.36181	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.77098	-1.07	5.7	4.66	0.58398	.	0.809709	0.11885	N	0.520084	T	0.73257	0.3564	L	0.38175	1.15	0.29424	N	0.860337	D;P	0.62365	0.991;0.867	P;B	0.48334	0.574;0.258	T	0.69026	-0.5254	10	0.66056	D	0.02	.	9.1687	0.37067	0.0:0.8356:0.0:0.1644	.	301;336	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	W	336;301	ENSP00000264079:R336W	ENSP00000264079:R336W	R	+	1	2	MCOLN1	7499728	0.005000	0.15991	1.000000	0.80357	0.426000	0.31534	0.089000	0.15002	2.700000	0.92200	0.563000	0.77884	CGG			0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458974.2		NM_020533		T	7593728	C	T	7593728	3	4	58	1	0	0	0	0	1	0	0	0	9411	759	27	1	1040	1	MCOLN1	19	7593728	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	1116842	7593728	51535255	105	4198											
ZNF559	84527	broad.mit.edu	37	chr19	9452580	9452580	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacttcctaactgtaatcaAtgtgaaacagccttcagcca	14	10	6	11	0	2	1	2	1	0	0	3	2	3	1	3	0	5	1	3	0	5	4			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:9452580A>G	ENST00000393883.2	+	6	1101	c.453A>G	c.(451-453)caA>caG	p.Q151Q	ZNF559_ENST00000586255.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Silent_p.Q215Q|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Silent_p.Q151Q|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Silent_p.Q71Q	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	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)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ACTGTAATCAATGTGAAACAG	0.373																																					p.Q215Q													.	ZNF559	77		0			c.A645G												107	108	107					19																	9452580		2203	4300	6503	SO:0001819	synonymous_variant	84527	exon6			TAATCAATGTGAA	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.453A>G	19.37:g.9452580A>G			140	0	0		98	0.03	3	NM_001202406	67	0.01	1	K7EMG6	Silent	SNP	ENST00000393883.2	37	CCDS12211.1																																																																																					0.373	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000449021.1		NM_032497		G	9452580	A	G	9452580	2	3	58	1	0	0	0	0	0	0	0	1	18013	98	4	4		4	ZNF559	19	9452580	Silent	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	1858852	9452580	49676403	106	4199											
HOOK2	29911	mdanderson.org	37	chr19	12878672	12878672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctgggcgcagcgcaGctcctcattggcctcccgca	5	7	12	17	3	1	0	1	0	0	0	3	0	3	0	3	2	4	6	3	2	0	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:12878672G>T	ENST00000397668.3	-	13	1334	c.1261C>A	c.(1261-1263)Ctg>Atg	p.L421M	HOOK2_ENST00000264827.5_Missense_Mutation_p.L421M|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	421	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCGCAGCGCAGCTCCTCATTG	0.652																																					p.L421M													.	.			0			c.C1261A												22	27	25					19																	12878672		1921	4123	6044	SO:0001583	missense	29911	exon13			AGCGCAGCTCCTC	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1261C>A	19.37:g.12878672G>T	ENSP00000380785:p.Leu421Met		37	0	0		35	0.09	3	NM_001100176	23	0	0	O60562	Missense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168284	0.78339	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.37584	1.19;1.19	5.61	3.47	0.39725	.	0.000000	0.64402	D	0.000001	T	0.62429	0.2427	M	0.86502	2.82	0.41162	D	0.986108	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69826	-0.5040	10	0.87932	D	0	-18.9845	11.6042	0.51022	0.1501:0.0:0.8499:0.0	.	421;421	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	421	ENSP00000380785:L421M;ENSP00000264827:L421M	ENSP00000264827:L421M	L	-	1	2	HOOK2	12739672	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	5.084000	0.64462	1.389000	0.46526	0.558000	0.71614	CTG			0.652	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000451008.1		NM_013312		T	12878672	G	T	12878672	3	4	58	1	0	0	0	0	1	0	0	0	7298	962	34	2	942	2	HOOK2	19	12878672	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	3426092	12878672	46250311	107	4200											
ZNF506	440515	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	19906184	19906184	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctatacatttaaaagatTtttttccagtatctcttatc	12	20	2	7	0	2	1	0	0	2	1	5	1	3	1	1	0	1	1	1	0	6	10			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:19906184T>G	ENST00000540806.2	-	4	600	c.512A>C	c.(511-513)aAa>aCa	p.K171T	ZNF506_ENST00000450683.2_Missense_Mutation_p.K139T|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.K171T|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TTTAAAAGATTTTTTTCCAGT	0.289																																					p.K171T													.	.			0			c.A512C												40	38	39					19																	19906184		1871	4125	5996	SO:0001583	missense	440515	exon4			AAAGATTTTTTTC	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.512A>C	19.37:g.19906184T>G	ENSP00000440625:p.Lys171Thr		174	0	0		146	0.07	10	NM_001099269	23	0.3	7	B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	t	10.67	1.416871	0.25552	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.21191	2.02;2.02;2.02	1.16	-2.32	0.06745	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37839	0.1018	M	0.82056	2.57	0.09310	N	1	D;D	0.69078	0.997;0.993	D;P	0.70935	0.971;0.79	T	0.24799	-1.0150	9	0.87932	D	0	.	2.2165	0.03961	0.2494:0.2165:0.0:0.5341	.	171;139	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	T	171;171;139	ENSP00000393835:K171T;ENSP00000440625:K171T;ENSP00000408892:K139T	ENSP00000393835:K171T	K	-	2	0	ZNF506	19767184	0.151000	0.22747	0.001000	0.08648	0.003000	0.03518	0.356000	0.20181	-0.352000	0.08237	0.347000	0.21830	AAA			0.289	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000460794.1		XM_036218		G	19906184	T	G	19906184	3	3	58	1	0	0	0	0	1	0	0	0	17975	1841	64	4	826	4	ZNF506	19	19906184	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	7027512	19906184	39222799	108	4201											
CAPNS1	826	broad.mit.edu	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000588780.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Silent_p.G47G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	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.141C>T	19.37:g.36632054C>T			123	0.0081300813	1		79	0.09	7	NM_001749	2	0	0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				T	36632054	C	T	36632054	2	4	58	1	0	0	0	0	0	0	0	1	2635	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	16725870	36632054	22496929	109	4202											
CCDC8	83987	mdanderson.org	37	chr19	46915880	46915880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggctggggcgggtgcgggGtgctcttctccatgatgcgg	2	9	21	9	3	2	1	0	1	2	0	3	1	2	1	1	8	3	2	1	8	0	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:46915880G>T	ENST00000307522.3	-	1	961	c.188C>A	c.(187-189)aCc>aAc	p.T63N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	63					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CGGGTGCggggtgctcttctc	0.672																																					p.T63N													CCDC8,NS,carcinoma,+1,1	CCDC8	1	1	0			c.C188A												39	45	43					19																	46915880		2203	4300	6503	SO:0001583	missense	83987	exon1			TGCGGGGTGCTCT	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.188C>A	19.37:g.46915880G>T	ENSP00000303158:p.Thr63Asn		31	0	0		28	0.11	3	NM_032040	20	0	0	Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420417	0.62622	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.09255	3.0	4.42	2.3	0.28687	.	0.000000	0.41823	D	0.000820	T	0.19685	0.0473	M	0.64997	1.995	0.27363	N	0.955915	D	0.71674	0.998	D	0.66351	0.943	T	0.07290	-1.0780	10	0.15952	T	0.53	-18.014	5.9451	0.19213	0.2311:0.0:0.7689:0.0	.	63	Q9H0W5	CCDC8_HUMAN	N	63	ENSP00000303158:T63N	ENSP00000303158:T63N	T	-	2	0	CCDC8	51607720	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.073000	0.41519	1.155000	0.42497	0.585000	0.79938	ACC			0.672	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368598.1		NM_032040		T	46915880	G	T	46915880	3	4	58	1	0	0	0	0	1	0	0	0	2855	1261	44	3	1432	3	CCDC8	19	46915880	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	10283826	46915880	12213103	110	4203											
ZNF614	80110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	52519423	52519423	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggagtctttcctgtatgAcatctctcatgttgtatgag	9	15	10	7	0	3	2	1	2	2	0	5	3	4	3	1	1	0	3	1	1	3	4			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:52519423A>G	ENST00000270649.6	-	5	1972	c.1428T>C	c.(1426-1428)tgT>tgC	p.C476C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	476					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(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTCCTGTATGACATCTCTCAT	0.408																																					p.C476C													.	.			0			c.T1428C												150	137	141					19																	52519423		2203	4300	6503	SO:0001819	synonymous_variant	80110	exon5			TGTATGACATCTC	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1428T>C	19.37:g.52519423A>G			101	0	0		76	0.11	8	NM_025040	32	0.31	10	Q494T8|Q8TCF4|Q9BSN8	Silent	SNP	ENST00000270649.6	37	CCDS12847.1																																																																																					0.408	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462407.1		NM_025040		G	52519423	A	G	52519423	2	3	58	1	0	0	0	0	0	0	0	1	18062	273	10	4		4	ZNF614	19	52519423	Silent	SNP	A	TCGA-2G-AAKH-01A-11D-A42Y-10	5603543	52519423	6609560	111	4204											
NLRP12	91662	bcgsc.ca	37	chr19	54313068	54313068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggatctcgtacaagcaGctgaagaactccaaggagcc	12	7	10	12	1	1	2	0	1	1	1	4	4	3	4	3	2	5	3	3	2	5	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:54313068G>T	ENST00000324134.6	-	3	2013	c.1845C>A	c.(1843-1845)agC>agA	p.S615R	NLRP12_ENST00000354278.3_Missense_Mutation_p.S615R|NLRP12_ENST00000345770.5_Missense_Mutation_p.S615R|NLRP12_ENST00000535162.1_Missense_Mutation_p.S615R|NLRP12_ENST00000351894.4_Missense_Mutation_p.S615R|NLRP12_ENST00000391772.1_Missense_Mutation_p.S615R|NLRP12_ENST00000391773.1_Missense_Mutation_p.S615R|NLRP12_ENST00000391775.3_Missense_Mutation_p.S615R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	615					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGTACAAGCAGCTGAAGAACT	0.567																																					p.Y615X													.	NLRP12	236		0			c.C1845A												88	86	86					19																	54313068		2203	4300	6503	SO:0001583	missense	91662	exon3			CAAGCAGCTGAAG	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1845C>A	19.37:g.54313068G>T	ENSP00000319377:p.Ser615Arg		144	0.0069444444	1		117	0.05	6	NM_144687	138	0	0	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	9.506	1.104552	0.20632	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.05	1.68	0.24146	.	0.201691	0.25386	N	0.031052	T	0.76414	0.3984	L	0.60455	1.87	0.80722	D	1	D;P;P;P	0.56521	0.976;0.875;0.933;0.807	B;B;B;B	0.43990	0.438;0.307;0.307;0.328	T	0.71017	-0.4714	10	0.29301	T	0.29	.	6.1594	0.20356	0.1151:0.1911:0.6937:0.0	.	615;615;615;615	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	R	615	ENSP00000319377:S615R;ENSP00000438030:S615R;ENSP00000340473:S615R;ENSP00000346231:S615R;ENSP00000375655:S615R;ENSP00000375653:S615R;ENSP00000375652:S615R	ENSP00000319377:S615R	S	-	3	2	NLRP12	59004880	1.000000	0.71417	0.256000	0.24389	0.971000	0.66376	1.099000	0.31013	0.828000	0.34709	0.485000	0.47835	AGC			0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000134340.1		NM_144687		T	54313068	G	T	54313068	3	4	58	1	0	0	0	0	1	0	0	0	10491	962	34	2	1468	2	NLRP12	19	54313068	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	1793645	54313068	4815915	112	4205											
KIR2DL1	3811	mdanderson.org	37	chr19	55285080	55285080	+	Intron	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctctggacatcgtgatCataggtgagagtgtccagac	10	9	12	10	1	2	3	1	2	1	2	4	6	3	4	2	2	0	0	2	2	1	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:55285080C>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Silent_p.I122I|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.I122I|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			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)		ACATCGTGATCATAGGTGAGA	0.517																																					p.I122I													.	.			0			c.C366A												191	173	179					19																	55285080		2175	4210	6385	SO:0001627	intron_variant	3802	exon3			CGTGATCATAGGT	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.35-43909C>A	19.37:g.55285080C>A			31	0	0		31	0.1	3	NM_014218	0		0	O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37																																																																																						0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_013289		A	55285080	C	A	55285080	1	1	58	0	1	0	0	0	0	0	0	0	8331	816	29	3		3	KIR2DL1	19	55285080	Intron	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	972012	55285080	3843903	113	4206											
KIR3DL1	3811	broad.mit.edu;mdanderson.org	37	chr19	55329817	55329817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggcccagcgctgtggtgCctcgaggaggacacgtgact	6	7	15	13	3	0	1	0	1	0	0	1	4	0	3	3	4	2	1	3	4	0	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:55329817C>T	ENST00000391728.4	+	3	151	c.118C>T	c.(118-120)Cct>Tct	p.P40S	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P40S|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P40S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P40S|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P40S	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	40					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)		CGCTGTGGTGCCTCGAGGAGG	0.542																																					p.P40S													.	KIR3DL1	174		0			c.C118T												95	101	99					19																	55329817		2175	4125	6300	SO:0001583	missense	3811	exon3			GTGGTGCCTCGAG	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.118C>T	19.37:g.55329817C>T	ENSP00000375608:p.Pro40Ser		51	0	0		38	0.08	3	NM_013289	1	0	0	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	C	5.460	0.269864	0.10349	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	1.41	-1.68	0.08212	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12433	0.0302	L	0.46157	1.445	0.09310	N	1	P;B	0.38048	0.616;0.096	B;B	0.41510	0.359;0.016	T	0.25293	-1.0136	9	0.37606	T	0.19	.	5.4331	0.16464	0.5829:0.417:0.0:0.0	.	40;40	F6QF33;P43629	.;KI3L1_HUMAN	S	40;40;40;18;40;40	ENSP00000384528:P40S;ENSP00000443350:P40S;ENSP00000442355:P40S;ENSP00000375608:P40S;ENSP00000326868:P40S	ENSP00000326868:P40S	P	+	1	0	KIR3DL1	60021629	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.803000	0.04540	-0.295000	0.08960	0.184000	0.17185	CCT			0.542	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000141238.1		NM_013289		T	55329817	C	T	55329817	3	4	58	1	0	0	0	0	1	0	0	0	8335	739	26	2	128	2	KIR3DL1	19	55329817	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10	44737	55329817	3799166	114	4207											
TMEM86B	255043	mdanderson.org	37	chr19	55739752	55739752	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgggaatccagaggcagaaGtacacgcagcaggagaggat	14	4	15	8	2	0	3	0	0	0	3	2	6	1	5	1	4	2	4	1	4	3	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:55739752G>T	ENST00000327042.4	-	2	627	c.105C>A	c.(103-105)taC>taA	p.Y35*	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	35					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		AGAGGCAGAAGTACACGCAGC	0.642																																					p.Y35X													.	.			0			c.C105A												59	55	56					19																	55739752		2202	4300	6502	SO:0001587	stop_gained	255043	exon2			GCAGAAGTACACG	BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.105C>A	19.37:g.55739752G>T	ENSP00000321038:p.Tyr35*		56	0	0		35	0.09	3	NM_173804	8	0	0		Nonsense_Mutation	SNP	ENST00000327042.4	37	CCDS12920.1	.	.	.	.	.	.	.	.	.	.	.	40	8.167541	0.98686	.	.	ENSG00000180089	ENST00000327042	.	.	.	5.4	4.37	0.52481	.	0.071907	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4157	0.44320	0.1593:0.0:0.8407:0.0	.	.	.	.	X	35	.	ENSP00000321038:Y35X	Y	-	3	2	TMEM86B	60431564	1.000000	0.71417	0.999000	0.59377	0.615000	0.37417	2.958000	0.49145	1.440000	0.47531	0.655000	0.94253	TAC			0.642	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452659.1		NM_173804		T	55739752	G	T	55739752	4	4	58	1	0	0	0	0	0	1	0	0	16232	1024	36	3	583	3	TMEM86B	19	55739752	Nonsense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	409935	55739752	3389231	115	4208											
NAT14	57106	bcgsc.ca	37	chr19	55997853	55997853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgctcctcctggcggcgGccagcagcggcctgcgcttt	2	8	13	18	4	0	0	0	0	0	0	2	0	2	0	5	4	4	3	5	4	0	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr19:55997853G>A	ENST00000205194.4	+	3	454	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	SSC5D_ENST00000389623.6_5'Flank|NAT14_ENST00000592719.1_Intron|NAT14_ENST00000591590.1_3'UTR|NAT14_ENST00000587400.1_Intron|SSC5D_ENST00000587166.1_5'Flank	NM_020378.3	NP_065111.1	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14 (GCN5-related, putative)	51	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of transcription, DNA-templated (GO:0045893)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|N-acetyltransferase activity (GO:0008080)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		CCTGGCGGCGGCCAGCAGCGG	0.731																																					p.A51T													.	NAT14	11		0			c.G151A												8	10	9					19																	55997853		2173	4238	6411	SO:0001583	missense	57106	exon3			GCGGCGGCCAGCA	AB055059	CCDS12926.1	19q13.42	2011-11-25	2008-09-24		ENSG00000090971	ENSG00000090971			28918	protein-coding gene	gene with protein product	"K562 cells-derived leucine zipper-like protein 1"		"N-acetyltransferase 14"			10873651	Standard	NM_020378		Approved	KLP1	uc002qle.2	Q8WUY8		ENST00000205194.4:c.151G>A	19.37:g.55997853G>A	ENSP00000205194:p.Ala51Thr		20	0	0		17	0.24	4	NM_020378	37	0	0	Q8TDY7|Q9NS72	Missense_Mutation	SNP	ENST00000205194.4	37	CCDS12926.1	.	.	.	.	.	.	.	.	.	.	.	18.40	3.616348	0.66672	.	.	ENSG00000090971	ENST00000205194	.	.	.	3.42	3.42	0.39159	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.361525	0.25194	N	0.032435	T	0.38241	0.1033	N	0.22421	0.69	0.36276	D	0.855503	D	0.53885	0.963	P	0.47402	0.546	T	0.43442	-0.9391	9	0.30854	T	0.27	-40.4779	12.7437	0.57268	0.0:0.0:1.0:0.0	.	51	Q8WUY8	NAT14_HUMAN	T	51	.	ENSP00000205194:A51T	A	+	1	0	NAT14	60689665	0.084000	0.21492	0.918000	0.36340	0.862000	0.49288	1.205000	0.32308	1.928000	0.55862	0.491000	0.48974	GCC			0.731	NAT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453339.1		NM_020378		A	55997853	G	A	55997853	3	1	58	1	0	0	0	0	1	0	0	0	10191	1203	42	2	157	2	NAT14	19	55997853	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	258101	55997853	3131130	116	4209											
ESF1	51575	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	13753234	13753234	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgctcttccttcatccTctcctttccaaattctgaag	8	16	3	14	0	4	1	1	1	3	0	8	1	7	1	4	0	2	1	4	0	3	5			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr20:13753234T>C	ENST00000202816.1	-	5	1284	c.1177A>G	c.(1177-1179)Agg>Ggg	p.R393G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCCTTCATCCTCTCCTTTCCA	0.348																																					p.R393G													.	ESF1	77		0			c.A1177G												155	147	150					20																	13753234		2203	4300	6503	SO:0001583	missense	51575	exon5			TCATCCTCTCCTT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1177A>G	20.37:g.13753234T>C	ENSP00000202816:p.Arg393Gly		133	0	0		95	0.06	6	NM_001276380	79	0	0	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.899602	0.72754	.	.	ENSG00000089048	ENST00000202816	T	0.78246	-1.16	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.81470	0.4829	M	0.91038	3.17	0.80722	D	1	P	0.39665	0.682	B	0.32980	0.156	D	0.85829	0.1390	10	0.87932	D	0	-3.0613	15.9397	0.79745	0.0:0.0:0.0:1.0	.	393	Q9H501	ESF1_HUMAN	G	393	ENSP00000202816:R393G	ENSP00000202816:R393G	R	-	1	2	ESF1	13701234	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.432000	0.59922	2.223000	0.72356	0.528000	0.53228	AGG			0.348	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078049.1		NM_016649		C	13753234	T	C	13753234	3	2	58	1	0	0	0	0	1	0	0	0	5258	1550	54	4	1418	4	ESF1	20	13753234	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10		13753234	49272286	117	4210											
SLC19A1	6573	broad.mit.edu;ucsc.edu	37	chr21	46945796	46945796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgatgatggtcttgaCgatggtggcaaagaacgtgt	12	10	15	4	2	1	4	0	3	1	1	1	6	1	4	0	3	1	1	0	3	3	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr21:46945796C>T	ENST00000311124.4	-	5	1380	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I	SLC19A1_ENST00000485649.2_Missense_Mutation_p.V370I|SLC19A1_ENST00000380010.4_Missense_Mutation_p.V410I|SLC19A1_ENST00000567670.1_Missense_Mutation_p.V410I	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	410					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	ATGGTCTTGACGATGGTGGCA	0.582																																					p.V410I													.	SLC19A1	53		0			c.G1228A												141	125	131					21																	46945796		2203	4300	6503	SO:0001583	missense	6573	exon5			TCTTGACGATGGT	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1228G>A	21.37:g.46945796C>T	ENSP00000308895:p.Val410Ile		71	0	0		56	0.09	5	NM_001205206	29	0.24	7	B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	8.580	0.882172	0.17467	.	.	ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.84370	-1.84;-1.84;-1.84	4.51	2.62	0.31277	Major facilitator superfamily domain, general substrate transporter (1);	0.528936	0.17732	N	0.163844	T	0.65249	0.2673	N	0.04297	-0.235	0.31936	N	0.61157	P;P;P;P	0.40431	0.568;0.568;0.717;0.568	B;B;B;B	0.37451	0.188;0.188;0.25;0.188	T	0.67233	-0.5722	10	0.27082	T	0.32	-27.2649	8.1814	0.31313	0.0926:0.192:0.7153:0.0	.	370;432;410;410	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	I	157;410;410;370	ENSP00000308895:V410I;ENSP00000369347:V410I;ENSP00000441772:V370I	ENSP00000308895:V410I	V	-	1	0	SLC19A1	45770224	0.995000	0.38212	0.526000	0.27913	0.013000	0.08279	2.250000	0.43178	0.980000	0.38523	-0.211000	0.12701	GTC			0.582	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206796.1				T	46945796	C	T	46945796	3	4	58	1	0	0	0	0	1	0	0	0	14451	536	19	1	555	1	SLC19A1	21	46945796	Missense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10		46945796	1184099	118	4211											
DNAJB7	150353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	41257722	41257722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctttaaaaacatcatctgGcttatggaatgtgaagccgt	12	14	8	7	1	3	1	1	1	2	0	3	2	3	2	1	2	2	1	1	2	6	4			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr22:41257722G>T	ENST00000307221.4	-	1	408	c.277C>A	c.(277-279)Cca>Aca	p.P93T	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	93							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						ACATCATCTGGCTTATGGAAT	0.383																																					p.P93T													.	.			0			c.C277A												112	111	111					22																	41257722		2203	4300	6503	SO:0001583	missense	150353	exon1			CATCTGGCTTATG	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"Heat shock proteins / DNAJ (HSP40)"	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.277C>A	22.37:g.41257722G>T	ENSP00000307197:p.Pro93Thr		163	0	0		159	0.1	16	NM_145174	15	0.07	1	Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757530	0.15846	.	.	ENSG00000172404	ENST00000307221	T	0.79554	-1.28	4.7	1.4	0.22301	.	0.233115	0.28527	N	0.015023	T	0.80944	0.4721	M	0.89840	3.065	0.80722	D	1	P	0.41524	0.753	B	0.41332	0.354	T	0.78334	-0.2244	10	0.87932	D	0	.	4.6556	0.12615	0.0877:0.1563:0.6051:0.1508	.	93	Q7Z6W7	DNJB7_HUMAN	T	93	ENSP00000307197:P93T	ENSP00000307197:P93T	P	-	1	0	DNAJB7	39587668	0.995000	0.38212	0.874000	0.34290	0.014000	0.08584	2.630000	0.46494	0.422000	0.26005	0.591000	0.81541	CCA			0.383	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321765.1		NM_145174		T	41257722	G	T	41257722	3	4	58	1	0	0	0	0	1	0	0	0	4630	1203	42	2	656	2	DNAJB7	22	41257722	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10		41257722	10046844	119	4212											
FAM116B	414918	mdanderson.org	37	chr22	50756391	50756391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtcgtcggcatgccagggGctcctctgccctccacactg	4	9	11	17	2	1	0	0	0	1	0	5	0	3	0	4	3	2	2	4	3	0	0			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chr22:50756391G>T	ENST00000413817.3	-	4	389	c.318C>A	c.(316-318)agC>agA	p.S106R	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	106					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CATGCCAGGGGCTCCTCTGCC	0.662																																					p.S106R													.	.			0			c.C318A												47	54	52					22																	50756391		2084	4215	6299	SO:0001583	missense	414918	exon4			CCAGGGGCTCCTC	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.318C>A	22.37:g.50756391G>T	ENSP00000391524:p.Ser106Arg		26	0	0		33	0.09	3	NM_001001794	3	0	0	A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	CCDS46732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.543643|2.543643	0.45280|0.45280	.|.	.|.	ENSG00000205593|ENSG00000205593	ENST00000433760|ENST00000413817	.|.	.|.	.|.	4.67|4.67	3.65|3.65	0.41850|0.41850	.|.	.|0.317212	.|0.36555	.|N	.|0.002521	T|T	0.42899|0.42899	0.1223|0.1223	L|L	0.55834|0.55834	1.745|1.745	0.50171|0.50171	D|D	0.999859|0.999859	.|B;P	.|0.38642	.|0.337;0.641	.|B;B	.|0.36030	.|0.1;0.216	T|T	0.22765|0.22765	-1.0207|-1.0207	5|9	.|0.14656	.|T	.|0.56	-8.2084|-8.2084	10.736|10.736	0.46126|0.46126	0.0953:0.0:0.9047:0.0|0.0953:0.0:0.9047:0.0	.|.	.|106;106	.|Q8NEG7;C9JIV6	.|F116B_HUMAN;.	D|R	78|106	.|.	.|ENSP00000391524:S106R	A|S	-|-	2|3	0|2	FAM116B|FAM116B	49098963|49098963	0.988000|0.988000	0.35896|0.35896	0.995000|0.995000	0.50966|0.50966	0.810000|0.810000	0.45777|0.45777	1.484000|1.484000	0.35508|0.35508	1.070000|1.070000	0.40811|0.40811	0.313000|0.313000	0.20887|0.20887	GCC|AGC			0.662	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316845.3		NM_001001794		T	50756391	G	T	50756391	3	4	58	1	0	0	0	0	1	0	0	0	5418	1194	42	2	1507	2	FAM116B	22	50756391	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	9498669	50756391	548175	120	4213											
ARSF	416	broad.mit.edu	37	chrX	3019220	3019220	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcatttggaagctaggCgagggcatgcccaacttggt	9	8	16	8	1	0	0	0	0	0	0	0	3	0	1	1	5	3	3	1	5	3	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chrX:3019220C>T	ENST00000381127.1	+	8	1281	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	ARSF_ENST00000359361.2_Nonsense_Mutation_p.R354*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.R354*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	354					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)				GGAAGCTAGGCGAGGGCATGC	0.438																																					p.R354X													.	ARSF	97		0			c.C1060T												144	122	129					X																	3019220		2203	4299	6502	SO:0001587	stop_gained	416	exon8			GCTAGGCGAGGGC	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.1060C>T	X.37:g.3019220C>T	ENSP00000370519:p.Arg354*		297	0	0		488	0.01	5	NM_004042	0		0	Q8TCC5	Nonsense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590006	0.66105	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	.	.	.	2.81	-5.62	0.02481	.	2.429870	0.03186	U	0.172680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	3.3005	0.06982	0.1728:0.3367:0.3857:0.1048	.	.	.	.	X	354	.	ENSP00000352319:R354X	R	+	1	2	ARSF	3029220	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.695000	0.01913	-2.027000	0.00932	-0.312000	0.09012	CGA			0.438	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055652.1				T	3019220	C	T	3019220	4	4	58	1	0	0	0	0	0	1	0	0	991	760	27	1	1086	1	ARSF	23	3019220	Nonsense_Mutation	SNP	C	TCGA-2G-AAKH-01A-11D-A42Y-10		3019220	152251340	121	4214											
SCML2	10389	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chrX	18276363	18276374	+	Splice_Site	DEL	ACAGACTTGAGA	ACAGACTTGAGA	-																															ccatgtttgtttacatagacAcagacttgagaaaaaatgcg																										TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	ACAGACTTGAGA	ACAGACTTGAGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chrX:18276363_18276374delACAGACTTGAGA	ENST00000251900.4	-	10	1229_1233	c.1070_1074delTCTCAAGTCTGT	c.(1069-1074)gtctca>g	p.VS357del	SCML2_ENST00000398048.3_Splice_Site_p.VS93del	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	357					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTACATAGACACAGACTTGAGAAAAAATGCGT	0.425																																					p.357_359del	Esophageal Squamous(100;1252 1965 19021 35517)												.	SCML2	81		0			c.1070_1075del																																									SO:0001630	splice_region_variant	10389	exon10			ATAGACACAGACT	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1070-1TCTCAAGTCTGT>-	X.37:g.18276363_18276374delACAGACTTGAGA			169	0	0		243	0.09	22	NM_006089	36	0	0	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	In_Frame_Del	DEL	ENST00000251900.4	37	CCDS14185.1																																																																																					0.425	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055941.1		NM_006089	In_Frame_Del	-	18276374	ACAGACTTGAGA	-	18276363	8	5	58	1	0	1	0	1	0	0	1	0	13933	157	6	0	1052	0	SCML2	23	18276363	Splice_Site	DEL	ACAGACTTGAGA	TCGA-2G-AAKH-01A-11D-A42Y-10	15257143	18276363	136994197	122	4215											
MAGEB4	4115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	30261215	30261215	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcccggcccagagtTgcagccaggcgtggcactac	7	5	15	14	2	0	1	0	0	0	1	0	2	0	2	3	4	4	4	3	4	1	2			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chrX:30261215T>C	ENST00000378982.2	+	1	1159	c.963T>C	c.(961-963)gtT>gtC	p.V321V	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	321										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GGCCCAGAGTTGCAGCCAGGC	0.517																																					p.V321V													.	.			0			c.T963C												47	44	45					X																	30261215		2202	4300	6502	SO:0001819	synonymous_variant	4115	exon1			CAGAGTTGCAGCC		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.963T>C	X.37:g.30261215T>C			84	0	0		107	0.13	14	NM_002367	0		0	B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	ENST00000378982.2	37	CCDS14221.1																																																																																					0.517	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056159.1		NM_002367		C	30261215	T	C	30261215	2	2	58	1	0	0	0	0	0	0	0	1	9194	1799	63	4		4	MAGEB4	23	30261215	Silent	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	11984852	30261215	125009345	123	4216											
NR0B1	190	broad.mit.edu;mdanderson.org	37	chrX	30326687	30326687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacttgacgaagcgcagcGtcttcaacaggcccgctgag	10	7	12	12	4	2	2	1	2	1	0	2	3	2	2	1	1	4	3	1	1	3	3			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chrX:30326687G>C	ENST00000378970.4	-	1	1028	c.794C>G	c.(793-795)aCg>aGg	p.T265R	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.T265R	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	265	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAAGCGCAGCGTCTTCAACAG	0.667											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T265R													.	NR0B1	61		0			c.C794G	GRCh37	CI064714|CM071906	NR0B1	I|M								17	12	14					X																	30326687		2176	4245	6421	SO:0001583	missense	190	exon1			CGCAGCGTCTTCA	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.794C>G	X.37:g.30326687G>C	ENSP00000368253:p.Thr265Arg		24	0	0	816	44	0.07	3	NM_000475	4	0	0	Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454497	0.84209	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97352	-4.35;-4.35	5.47	5.47	0.80525	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99731	1.1012	10	0.72032	D	0.01	-18.6329	18.3739	0.90428	0.0:0.0:1.0:0.0	.	265	P51843	NR0B1_HUMAN	R	265	ENSP00000368253:T265R;ENSP00000396403:T265R	ENSP00000368253:T265R	T	-	2	0	NR0B1	30236608	1.000000	0.71417	0.928000	0.36995	0.995000	0.86356	9.270000	0.95690	2.277000	0.76020	0.513000	0.50165	ACG			0.667	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056161.1		NM_000475		C	30326687	G	C	30326687	3	2	58	1	0	0	0	0	1	0	0	0	10630	1145	40	5	626	5	NR0B1	23	30326687	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	65472	30326687	124943873	124	4217											
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu	37	chrX	53574783	53574785	+	In_Frame_Del	DEL	GTG	GTG	-																															tgggcgtggtggaggcggcaGtggtggtggtggtagatgtg																										TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	GTG	GTG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chrX:53574783_53574785delGTG	ENST00000342160.3	-	67	10942_10944	c.10485_10487delCAC	c.(10483-10488)accact>act	p.3495_3496TT>T	HUWE1_ENST00000262854.6_In_Frame_Del_p.3495_3496TT>T|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3495	Thr-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ggaggcggcagtggtggtggtgg	0.591																																					p.3496_3496del													.	HUWE1	724		0			c.10486_10488del																																									SO:0001651	inframe_deletion	10075	exon68			GCGGCAGTGGTGG	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.10485_10487delCAC	X.37:g.53574792_53574794delGTG	ENSP00000340648:p.Thr3496del		95	0	0		162	0.07	11	NM_031407	502	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	In_Frame_Del	DEL	ENST00000342160.3	37	CCDS35301.1																																																																																					0.591	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056766.1		XM_497119		-	53574785	GTG	-	53574783	7	5	58	1	0	1	0	1	0	0	0	0	7476	1029	36	0	2705	0	HUWE1	23	53574783	In_Frame_Del	DEL	GTG	TCGA-2G-AAKH-01A-11D-A42Y-10	23248096	53574783	101695777	125	4218											
PHKA1	5255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	71829496	71829496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagatagtcttttctcgagGttctggaggaagtcctactg	9	13	12	7	1	3	1	0	0	3	1	5	5	4	3	1	3	1	1	1	3	3	5			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chrX:71829496G>T	ENST00000373542.4	-	23	2743	c.2584C>A	c.(2584-2586)Cct>Act	p.P862T	PHKA1_ENST00000541944.1_Missense_Mutation_p.P803T|PHKA1_ENST00000373545.3_Missense_Mutation_p.P803T|PHKA1_ENST00000373539.3_Missense_Mutation_p.P862T|PHKA1_ENST00000339490.3_Missense_Mutation_p.P862T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	862					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)					TTTTCTCGAGGTTCTGGAGGA	0.463																																					p.P862T													.	.			0			c.C2584A												215	183	194					X																	71829496		2203	4300	6503	SO:0001583	missense	5255	exon23			CTCGAGGTTCTGG		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.2584C>A	X.37:g.71829496G>T	ENSP00000362643:p.Pro862Thr		121	0	0		159	0.26	42	NM_002637	111	0.46	51	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475166	0.84640	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91124	-2.76;-2.79;-2.78;-2.77;-2.75	5.65	5.65	0.86999	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95319	0.8481	M	0.86178	2.8	0.80722	D	1	D;P;D	0.89917	1.0;0.833;0.994	D;P;D	0.97110	1.0;0.772;0.962	D	0.94145	0.7400	10	0.24483	T	0.36	-13.33	15.893	0.79315	0.0:0.0:1.0:0.0	.	803;862;862	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	T	803;862;803;862;862	ENSP00000362646:P803T;ENSP00000362643:P862T;ENSP00000441251:P803T;ENSP00000342469:P862T;ENSP00000362640:P862T	ENSP00000342469:P862T	P	-	1	0	PHKA1	71746221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.321000	0.96353	2.353000	0.79882	0.544000	0.68410	CCT			0.463	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000058896.1				T	71829496	G	T	71829496	3	4	58	1	0	0	0	0	1	0	0	0	11860	1261	44	3	1127	3	PHKA1	23	71829496	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	18254713	71829496	83441064	126	4219											
ATRX	546	broad.mit.edu	37	chrX	76855029	76855029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctactatcttttttccccTttttcccttttttcttcttt	3	25	1	12	0	3	0	0	0	3	0	5	0	5	0	3	0	2	1	3	0	2	12			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chrX:76855029T>C	ENST00000373344.5	-	25	6021	c.5807A>G	c.(5806-5808)aAg>aGg	p.K1936R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				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.K1936T(2)|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						TTTTTTCCCCTTTTTCCCTTT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.K1936R				Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX	833		3	Substitution - Missense(2)|Unknown(1)	lung(2)|bone(1)	c.A5807G												329	308	315					X																	76855029		2203	4295	6498	SO:0001583	missense	546	exon25			TTCCCCTTTTTCC	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.5807A>G	X.37:g.76855029T>C	ENSP00000362441:p.Lys1936Arg		302	0	0		385	0.01	5	NM_000489	22	0	0	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.468878	0.26335	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92647	-3.07;-3.08	5.64	0.648	0.17801	.	0.202398	0.40469	N	0.001084	T	0.82217	0.4989	N	0.16903	0.455	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.67492	-0.5657	10	0.38643	T	0.18	-2.2976	8.217	0.31519	0.0:0.3103:0.0:0.6897	.	1898;1936	P46100-4;P46100	.;ATRX_HUMAN	R	1936;1898	ENSP00000362441:K1936R;ENSP00000378967:K1898R	ENSP00000362441:K1936R	K	-	2	0	ATRX	76741685	0.758000	0.28405	0.831000	0.32960	0.973000	0.67179	1.172000	0.31908	-0.241000	0.09681	-0.330000	0.08379	AAG			0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058860.2		NM_000489		C	76855029	T	C	76855029	3	2	58	1	0	0	0	0	1	0	0	0	1208	1609	56	4	1715	4	ATRX	23	76855029	Missense_Mutation	SNP	T	TCGA-2G-AAKH-01A-11D-A42Y-10	5025533	76855029	78415531	127	4220											
RGAG1	57529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	109695094	109695094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatgtccacaccgctaatgGgagccccagcctctggaaat	11	7	9	14	1	1	0	0	0	1	0	2	2	2	2	5	2	2	1	5	2	3	1			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chrX:109695094G>A	ENST00000465301.2	+	3	1495	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	RGAG1_ENST00000540313.1_Missense_Mutation_p.G417R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	417										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACCGCTAATGGGAGCCCCAGC	0.512																																					p.G417R													.	.			0			c.G1249A												174	179	178					X																	109695094		2203	4300	6503	SO:0001583	missense	57529	exon3			CTAATGGGAGCCC	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1249G>A	X.37:g.109695094G>A	ENSP00000419786:p.Gly417Arg		44	0	0		76	0.12	9	NM_020769	0		0	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	7.827	0.719076	0.15372	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.37411	1.2;1.2	3.98	0.229	0.15368	.	0.390976	0.18935	N	0.127112	T	0.16854	0.0405	N	0.20530	0.585	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15009	-1.0452	9	.	.	.	-3.2294	3.2027	0.06655	0.5961:0.0:0.2242:0.1797	.	417	Q8NET4	RGAG1_HUMAN	R	417	ENSP00000419786:G417R;ENSP00000441452:G417R	.	G	+	1	0	RGAG1	109581750	0.558000	0.26554	0.002000	0.10522	0.563000	0.35712	1.615000	0.36922	-0.067000	0.12976	-0.340000	0.08031	GGA			0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057906.2		NM_020769		A	109695094	G	A	109695094	3	1	58	1	0	0	0	0	1	0	0	0	13297	1233	43	3	1251	3	RGAG1	23	109695094	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	32840065	109695094	45575466	128	4221											
XIAP	331	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	123040895	123040895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagctttgcaaaatctGtatggatagaaatattgcta	15	12	10	4	0	1	2	0	0	1	2	1	4	1	3	0	2	3	4	0	2	8	6			TCGA-2G-AAKH-01A-11D-A42Y-10	TCGA-2G-AAKH-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4181974f-50f6-46f2-80af-81cef983c7df	539c8e99-0cf7-4e55-a88a-d21072e30885	g.chrX:123040895G>T	ENST00000371199.3	+	7	1657	c.1358G>T	c.(1357-1359)tGt>tTt	p.C453F	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.C453F|XIAP_ENST00000355640.3_Missense_Mutation_p.C453F	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	453					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|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)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TGCAAAATCTGTATGGATAGA	0.388									X-linked Lymphoproliferative syndrome																												p.C453F													.	.			0			c.G1358T												89	82	84					X																	123040895		2203	4300	6503	SO:0001583	missense	331	exon7	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	AAATCTGTATGGA	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1358G>T	X.37:g.123040895G>T	ENSP00000360242:p.Cys453Phe		155	0	0		202	0.17	35	NM_001204401	25	0.24	6	D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	g	18.93	3.727497	0.69074	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	D;D;D	0.96522	-4.04;-4.04;-4.04	5.36	5.36	0.76844	Baculoviral inhibition of apoptosis protein repeat (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99044	1.0825	9	.	.	.	-8.9486	17.7815	0.88524	0.0:0.0:1.0:0.0	.	453	P98170	XIAP_HUMAN	F	453	ENSP00000395230:C453F;ENSP00000360242:C453F;ENSP00000347858:C453F	.	C	+	2	0	XIAP	122868576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.254000	0.95512	2.232000	0.73038	0.538000	0.68166	TGT			0.388	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058165.5		NM_001167		T	123040895	G	T	123040895	3	4	58	1	0	0	0	0	1	0	0	0	17452	1377	48	3	1380	3	XIAP	23	123040895	Missense_Mutation	SNP	G	TCGA-2G-AAKH-01A-11D-A42Y-10	13345801	123040895	32229665	129	4222											
AJAP1	55966	mdanderson.org	37	chr1	4772463	4772463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggcccaccacagagaCtgagttcatcgcctgggggc	8	5	13	15	2	1	2	1	1	0	1	2	3	1	2	4	3	1	1	4	3	0	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:4772463C>T	ENST00000378191.4	+	2	914	c.533C>T	c.(532-534)aCt>aTt	p.T178I	AJAP1_ENST00000378190.3_Missense_Mutation_p.T178I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	178	Thr-rich.				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)		ACCACAGAGACTGAGTTCATC	0.667																																					p.T178I													.	.			0			c.C533T												14	15	15					1																	4772463		2199	4292	6491	SO:0001583	missense	55966	exon2			CAGAGACTGAGTT	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.533C>T	1.37:g.4772463C>T	ENSP00000367433:p.Thr178Ile		53	0	0		44	0.07	3	NM_018836	4	0	0	Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649360	0.67358	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.49720	0.77;0.77	5.25	5.25	0.73442	.	0.473238	0.21778	N	0.069260	T	0.46034	0.1372	L	0.27053	0.805	0.39152	D	0.962233	P	0.52061	0.95	P	0.50708	0.648	T	0.49725	-0.8909	10	0.52906	T	0.07	-4.8417	14.3171	0.66460	0.0:1.0:0.0:0.0	.	178	Q9UKB5	AJAP1_HUMAN	I	178	ENSP00000367432:T178I;ENSP00000367433:T178I	ENSP00000367432:T178I	T	+	2	0	AJAP1	4672323	0.998000	0.40836	0.973000	0.42090	0.950000	0.60333	4.175000	0.58263	2.432000	0.82394	0.467000	0.42956	ACT			0.667	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001542.3		NM_018836		T	4772463	C	T	4772463	3	4	59	1	0	0	0	0	1	0	0	0	438	565	20	3	539	3	AJAP1	1	4772463	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10		4772463	244478158	1	4223											
GRHL3	57822	broad.mit.edu	37	chr1	24666205	24666205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagcacattgaggaggtgGcctataatgcactgtccttt	9	12	12	8	0	0	1	0	1	0	0	1	3	1	3	2	4	2	2	2	4	2	4			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:24666205G>T	ENST00000350501.5	+	8	1127	c.1000G>T	c.(1000-1002)Gcc>Tcc	p.A334S	GRHL3_ENST00000361548.4_Missense_Mutation_p.A334S|GRHL3_ENST00000236255.4_Missense_Mutation_p.A339S|GRHL3_ENST00000356046.2_Missense_Mutation_p.A288S|GRHL3_ENST00000342072.4_Missense_Mutation_p.A241S	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	334					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGAGGAGGTGGCCTATAATGC	0.532																																					p.A339S													GRHL3,NS,carcinoma,-2,1	GRHL3	69	1	0			c.G1015T												269	246	254					1																	24666205		2203	4300	6503	SO:0001583	missense	57822	exon8			GAGGTGGCCTATA	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1000G>T	1.37:g.24666205G>T	ENSP00000288955:p.Ala334Ser		125	0	0		117	0.03	4	NM_021180	0		0	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800784	0.70567	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.38531	1.155	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.01884	-1.1254	10	0.12766	T	0.61	-43.0759	18.8848	0.92372	0.0:0.0:1.0:0.0	.	288;339;334	A2A297;Q8TE85-2;G3XAF0	.;.;.	S	334;241;334;288;339	ENSP00000354943:A334S;ENSP00000340543:A241S;ENSP00000288955:A334S;ENSP00000348333:A288S;ENSP00000236255:A339S	ENSP00000236255:A339S	A	+	1	0	GRHL3	24538792	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.322000	0.59215	2.700000	0.92200	0.655000	0.94253	GCC			0.532	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000009047.2		NM_021180		T	24666205	G	T	24666205	3	4	59	1	0	0	0	0	1	0	0	0	6780	1203	42	2	1066	2	GRHL3	1	24666205	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	19893742	24666205	224584416	2	4224											
TMEM57	55219	broad.mit.edu	37	chr1	25812258	25812258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaagccactgctgccCgggctgttgcgtttgctgct	6	11	13	11	2	0	2	0	0	0	2	0	2	0	2	2	1	6	6	2	1	3	3	rs142677711		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:25812258C>T	ENST00000374343.4	+	8	1647	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	TMEM57_ENST00000399766.3_Missense_Mutation_p.R263W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R132W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	490					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CACTGCTGCCCGGGCTGTTGC	0.448																																					p.R490W													TMEM57,colon,carcinoma,-1,1	TMEM57	72	1	0			c.C1468T							C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	87	99	95		1468	5.2	1	1	dbSNP_134	95	0,8600		0,0,4300	no	missense	TMEM57	NM_018202.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	490/665	25812258	1,13005	2203	4300	6503	SO:0001583	missense	55219	exon8			GCTGCCCGGGCTG	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1468C>T	1.37:g.25812258C>T	ENSP00000363463:p.Arg490Trp		92	0	0		85	0.04	3	NM_018202	63	0	0	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222008	0.79464	2.27E-4	0.0	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;T	0.80994	-1.44;2.47	6.17	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.88969	0.6582	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.966;0.985;1.0	D	0.89366	0.3671	10	0.87932	D	0	-10.8389	13.4387	0.61099	0.2682:0.7318:0.0:0.0	.	132;263;490	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	W	263;132;490	ENSP00000382668:R263W;ENSP00000363463:R490W	ENSP00000363463:R490W	R	+	1	2	TMEM57	25684845	0.998000	0.40836	0.998000	0.56505	0.952000	0.60782	2.745000	0.47459	2.941000	0.99782	0.655000	0.94253	CGG			0.448	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009659.2		NM_018202		T	25812258	C	T	25812258	3	4	59	1	0	0	0	0	1	0	0	0	16207	643	23	1	1498	1	TMEM57	1	25812258	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	1146053	25812258	223438363	3	4225											
UBXN11	91544	bcgsc.ca	37	chr1	26608904	26608904	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaccgggacagggaccAggactgaatttcaggctgga	10	5	16	10	2	1	1	1	1	0	0	1	6	1	6	3	6	0	1	3	6	1	1	rs201519763	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:26608904A>G	ENST00000374222.1	-	16	1913	c.1449T>C	c.(1447-1449)ccT>ccC	p.P483P	UBXN11_ENST00000374221.3_Silent_p.P483P|UBXN11_ENST00000374223.1_Silent_p.P240P|UBXN11_ENST00000374217.2_Silent_p.P450P|UBXN11_ENST00000357089.4_Silent_p.P450P|UBXN11_ENST00000314675.7_Silent_p.P363P			Q5T124	UBX11_HUMAN	UBX domain protein 11	483	Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gacagggaccaggactgAATT	0.706													A|||	8	0.00159744	0	0.0029	5008	,	,		13394	0.006		0	False		,,,				2504	0				p.P483P													.	UBXN11	54		0			c.T1449C												57	69	65					1																	26608904		1875	4077	5952	SO:0001819	synonymous_variant	91544	exon16			GGGACCAGGACTG	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1449T>C	1.37:g.26608904A>G			41	0	0		43	0.12	5	NM_183008	26	0	0	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	CCDS41288.1																																																																																					0.706	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000009500.1		NM_145345		G	26608904	A	G	26608904	2	3	59	1	0	0	0	0	0	0	0	1	16937	175	7	4		4	UBXN11	1	26608904	Silent	SNP	A	TCGA-2G-AAKL-01A-11D-A42Y-10	796646	26608904	222641717	4	4226											
BAI2	576	broad.mit.edu	37	chr1	32203076	32203076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggatcaggatgttggatGccaagatggacaggcagaag	13	6	16	6	1	1	2	1	0	0	2	1	7	1	6	1	5	1	2	1	5	2	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:32203076G>T	ENST00000373658.3	-	20	3274	c.2933C>A	c.(2932-2934)gCa>gAa	p.A978E	BAI2_ENST00000527361.1_Missense_Mutation_p.A978E|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000440175.2_Missense_Mutation_p.A620E|BAI2_ENST00000398547.1_Missense_Mutation_p.A911E|BAI2_ENST00000373655.2_Missense_Mutation_p.A978E|BAI2_ENST00000398538.1_Missense_Mutation_p.A966E|BAI2_ENST00000257070.4_Missense_Mutation_p.A978E|BAI2_ENST00000398542.1_Missense_Mutation_p.A911E|BAI2_ENST00000398556.3_Missense_Mutation_p.A926E	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	978					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)		GATGTTGGATGCCAAGATGGA	0.617																																					p.A978E													.	BAI2	128		0			c.C2933A												134	119	124					1																	32203076		2203	4300	6503	SO:0001583	missense	576	exon20			TTGGATGCCAAGA	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.2933C>A	1.37:g.32203076G>T	ENSP00000362762:p.Ala978Glu		264	0	0		199	0.03	6	NM_001703	3	0	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869066	0.72065	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.04	5.04	0.67666	GPCR, family 2-like (1);	0.000000	0.42821	D	0.000656	T	0.71459	0.3342	M	0.70595	2.14	0.46044	D	0.998831	D;D;D;D;D	0.67145	0.991;0.984;0.971;0.996;0.987	P;P;P;D;D	0.66979	0.84;0.879;0.901;0.948;0.926	T	0.72257	-0.4346	10	0.51188	T	0.08	.	18.8871	0.92383	0.0:0.0:1.0:0.0	.	978;966;620;978;978	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	E	926;911;978;978;911;978;978;620;966	ENSP00000381564:A926E;ENSP00000381555:A911E;ENSP00000362762:A978E;ENSP00000362759:A978E;ENSP00000381550:A911E;ENSP00000257070:A978E;ENSP00000435397:A978E;ENSP00000391071:A620E;ENSP00000381548:A966E	ENSP00000257070:A978E	A	-	2	0	BAI2	31975663	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.578000	0.74032	2.724000	0.93272	0.561000	0.74099	GCA			0.617	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000381838.1		NM_001703		T	32203076	G	T	32203076	3	4	59	1	0	0	0	0	1	0	0	0	1299	1319	46	2	1880	2	BAI2	1	32203076	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	5594172	32203076	217047545	5	4227											
IGSF3	3321	ucsc.edu	37	chr1	117142613	117142613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggtcctctccgccagtCgcgtccaggtgttgttgtag	4	12	14	11	3	1	0	0	0	1	0	5	1	3	1	4	3	0	3	4	3	1	3	rs76151115	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:117142613C>T	ENST00000369486.3	-	7	2744	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	IGSF3_ENST00000318837.6_Missense_Mutation_p.R680Q|IGSF3_ENST00000369483.1_Missense_Mutation_p.R680Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	660	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCGCCAGTCGCGTCCAGGT	0.612																																					p.R680Q													.	IGSF3	294		0			c.G2039A												69	54	59					1																	117142613		2203	4300	6503	SO:0001583	missense	3321	exon8			GCCAGTCGCGTCC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1979G>A	1.37:g.117142613C>T	ENSP00000358498:p.Arg660Gln		62	0.0967741935	6		60	0.17	10	NM_001542	59	0	0	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979753	0.34942	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.04;4.04	4.56	2.7	0.31948	Immunoglobulin subtype (1);	0.270543	0.31010	N	0.008430	T	0.01353	0.0044	L	0.29908	0.895	0.36040	D	0.840027	D;D;D	0.59767	0.982;0.986;0.986	B;P;P	0.45310	0.345;0.476;0.476	T	0.64071	-0.6493	10	0.22706	T	0.39	-28.9658	8.7768	0.34767	0.0:0.8142:0.0:0.1858	.	680;660;680	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Q	660;680;680	ENSP00000358498:R660Q;ENSP00000358495:R680Q;ENSP00000321184:R680Q	ENSP00000321184:R680Q	R	-	2	0	IGSF3	116944136	0.789000	0.28775	0.602000	0.28890	0.526000	0.34562	2.194000	0.42668	0.550000	0.28991	-0.384000	0.06662	CGA			0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000059040.1		NM_001542		T	117142613	C	T	117142613	3	4	59	1	0	0	0	0	1	0	0	0	7616	884	31	1	1625	1	IGSF3	1	117142613	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	84939537	117142613	132108008	6	4228											
C1orf104	23623	mdanderson.org	37	chr1	155290690	155290690	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgcagggtaggttgtgctAgtgcccctcccctcccgctc	4	9	12	16	2	0	0	0	0	0	0	3	0	2	0	5	2	3	5	5	2	2	3			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:155290690A>G	ENST00000368352.5	+	0	0				RUSC1_ENST00000368354.3_5'UTR|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AGGTTGTGCTAGTGCCCCTCC	0.701																																					p.L197P													.	.			0			c.T590C												23	27	26					1																	155290690		1984	4141	6125	SO:0001631	upstream_gene_variant	284618	exon2			TGTGCTAGTGCCC	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910		1.37:g.155290690A>G	Exception_encountered		43	0	0		36	0.11	4	NM_001039517	0		0	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																					0.701	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039071.1				G	155290690	A	G	155290690	1	3	59	0	1	0	0	0	0	0	0	0	1980	420	15	4		4	C1orf104	1	155290690	5'Flank	SNP	A	TCGA-2G-AAKL-01A-11D-A42Y-10	38148077	155290690	93959931	7	4229											
C1orf125	126859	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	179504046	179504046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagaagaagaacaacaaGaagaagaagaagtcaggtca	24	2	11	4	0	2	8	2	0	0	8	2	8	2	8	0	1	2	0	0	1	11	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:179504046G>C	ENST00000367618.3	+	25	3367	c.2980G>C	c.(2980-2982)Gaa>Caa	p.E994Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	994	Glu-rich.							p.E994Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaacaacaagaagaagaaga	0.328																																					p.E994Q													AXDND1,caecum,carcinoma,0,2	AXDND1	142	2	1	Substitution - Missense(1)	large_intestine(1)	c.G2980C												50	54	53					1																	179504046		2135	4283	6418	SO:0001583	missense	126859	exon25			CAACAAGAAGAAG	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2980G>C	1.37:g.179504046G>C	ENSP00000356590:p.Glu994Gln		280	0.0035714286	1		230	0.03	7	NM_144696	0		0	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266099	0.23136	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.18657	2.2;2.21	4.81	4.81	0.61882	.	0.325544	0.22135	N	0.064137	T	0.23572	0.0570	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.982;0.994	P;P	0.56960	0.709;0.81	T	0.01330	-1.1383	10	0.21014	T	0.42	-2.7717	13.5575	0.61768	0.0:0.0:1.0:0.0	.	878;994	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	994;878;854	ENSP00000356590:E994Q;ENSP00000391716:E854Q	ENSP00000353471:E878Q	E	+	1	0	AXDND1	177770669	0.000000	0.05858	0.079000	0.20413	0.028000	0.11728	0.055000	0.14229	2.655000	0.90218	0.530000	0.56133	GAA			0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085312.1		NM_144696		C	179504046	G	C	179504046	3	2	59	1	0	0	0	0	1	0	0	0	1995	943	33	5	3074	5	C1orf125	1	179504046	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	24213356	179504046	69746575	8	4230											
C1orf116	79098	broad.mit.edu	37	chr1	207196070	207196070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctagagcttctttacGtgcttttctctgctcttgca	4	19	6	12	1	4	1	0	0	4	1	6	1	4	1	0	0	5	4	0	0	2	8	rs200569642		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr1:207196070G>T	ENST00000359470.5	-	4	1288	c.1039C>A	c.(1039-1041)Cgt>Agt	p.R347S	C1orf116_ENST00000461135.2_Missense_Mutation_p.R101S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	347						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTTCTTTACGTGCTTTTCTC	0.562																																					p.R347S													.	C1orf116	64		0			c.C1039A												62	64	63					1																	207196070		2203	4300	6503	SO:0001583	missense	79098	exon4			CTTTACGTGCTTT		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1039C>A	1.37:g.207196070G>T	ENSP00000352447:p.Arg347Ser		103	0	0		72	0.04	3	NM_023938	0		0	C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041153	0.55003	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.12672	2.66;2.66	5.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	M	0.66939	2.045	0.27857	N	0.940541	D	0.89917	1.0	D	0.91635	0.999	T	0.05435	-1.0885	10	0.87932	D	0	-21.9504	14.2303	0.65887	0.0:0.0:0.772:0.2279	.	347	Q9BW04	SARG_HUMAN	S	347;101	ENSP00000352447:R347S;ENSP00000436862:R101S	ENSP00000352447:R347S	R	-	1	0	C1orf116	205262693	0.389000	0.25205	0.720000	0.30636	0.422000	0.31414	1.889000	0.39718	2.608000	0.88229	0.655000	0.94253	CGT			0.562	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088973.1		NM_024115		T	207196070	G	T	207196070	3	4	59	1	0	0	0	0	1	0	0	0	1991	1145	40	1	770	1	C1orf116	1	207196070	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	27692024	207196070	42054551	9	4231											
MYCN	4613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	16085979	16085979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacagtgagcgtcgcagaaaCcacaacatcctggagcgcca	13	4	11	13	3	0	2	0	1	0	1	2	4	1	3	3	1	4	1	3	1	2	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:16085979C>A	ENST00000281043.3	+	3	1452	c.1155C>A	c.(1153-1155)aaC>aaA	p.N385K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	385	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTCGCAGAAACCACAACATCC	0.612			A		neuroblastoma																																p.N385K				Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	.	.			0			c.C1155A												71	74	73					2																	16085979		2203	4300	6503	SO:0001583	missense	4613	exon3			CAGAAACCACAAC	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1155C>A	2.37:g.16085979C>A	ENSP00000281043:p.Asn385Lys		125	0	0		126	0.25	31	NM_005378	662	0.31	204	Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126026	0.56721	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.97811	-4.55	5.14	3.35	0.38373	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.97315	0.9122	L	0.38838	1.175	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.96875	0.9642	10	0.66056	D	0.02	-20.9693	11.8257	0.52265	0.0:0.8565:0.0:0.1435	.	385	P04198	MYCN_HUMAN	K	385;303	ENSP00000281043:N385K	ENSP00000281043:N385K	N	+	3	2	MYCN	16003430	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	3.866000	0.56040	0.702000	0.31825	-0.208000	0.12717	AAC			0.612	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095469.2		NM_005378		A	16085979	C	A	16085979	3	1	59	1	0	0	0	0	1	0	0	0	10037	506	18	3	1161	3	MYCN	2	16085979	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10		16085979	227113394	10	4232											
SPRED2	200734	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	65571938	65571938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttacagaccccgacgCgactgatcccgcctccttcc	7	8	7	19	4	0	3	0	2	0	1	3	5	3	3	7	0	1	0	7	0	1	2	rs201064965		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:65571938C>T	ENST00000356388.4	-	2	308	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SPRED2_ENST00000443619.2_Missense_Mutation_p.R37H|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	40	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				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						GACCCCGACGCGACTGATCCC	0.532																																					p.R40H													SPRED2,NS,carcinoma,+1,1	SPRED2	1	1	0			c.G119A												101	83	89					2																	65571938		2203	4300	6503	SO:0001583	missense	200734	exon2			CCGACGCGACTGA	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.119G>A	2.37:g.65571938C>T	ENSP00000348753:p.Arg40His		127	0	0		151	0.05	8	NM_181784	203	0.08	17	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326194	0.81580	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000440972	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	4.98	4.98	0.66077	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	L	0.31752	0.955	0.80722	D	1	B;D	0.89917	0.253;1.0	B;D	0.91635	0.06;0.999	D	0.96776	0.9572	10	0.14656	T	0.56	-24.5378	18.2435	0.89977	0.0:1.0:0.0:0.0	.	37;40	E9PEP0;Q7Z698	.;SPRE2_HUMAN	H	40;37;55;40	ENSP00000348753:R40H;ENSP00000393697:R37H;ENSP00000390595:R55H;ENSP00000406481:R40H	ENSP00000348753:R40H	R	-	2	0	SPRED2	65425442	1.000000	0.71417	0.993000	0.49108	0.862000	0.49288	6.049000	0.71053	2.281000	0.76405	0.305000	0.20034	CGC			0.532	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000327632.1				T	65571938	C	T	65571938	3	4	59	1	0	0	0	0	1	0	0	0	15116	768	27	1	1157	1	SPRED2	2	65571938	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	49485959	65571938	177627435	11	4233											
RGPD5	727851	hgsc.bcm.edu	37	chr2	113147115	113147115	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcatcaccatcagagAaatcactggctgaccacatc	12	9	8	12	0	3	2	3	1	0	1	4	3	3	2	2	2	0	3	2	2	1	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:113147115A>C	ENST00000302558.3	-	20	3598	c.3407T>G	c.(3406-3408)tTc>tGc	p.F1136C	RGPD8_ENST00000409750.1_Missense_Mutation_p.F996C	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1136	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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						ACCATCAGAGAAATCACTGGC	0.448																																					p.F1136C													RGPD8_ENST00000302558,NS,carcinoma,+1,2	RGPD8_ENST00000302558	1	2	0			c.T3407G												14	12	13					2																	113147115		690	1576	2266	SO:0001583	missense	727851	exon20			TCAGAGAAATCAC	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.3407T>G	2.37:g.113147115A>C	ENSP00000306637:p.Phe1136Cys		33	0	0		40	0.15	6	NM_001164463	21	0.38	8	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	8.040	0.763646	0.15914	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.50548	0.74;0.74	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.59878	0.2226	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56938	-0.7896	9	0.39692	T	0.17	-20.8369	8.205	0.31449	1.0:0.0:0.0:0.0	.	1136	O14715	RGPD8_HUMAN	C	1136;996	ENSP00000306637:F1136C;ENSP00000386511:F996C	ENSP00000306637:F1136C	F	-	2	0	RGPD8	112863586	1.000000	0.71417	0.999000	0.59377	0.371000	0.29859	7.207000	0.77899	1.068000	0.40764	0.128000	0.15822	TTC			0.448	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375951.1		XM_001722279		C	113147115	A	C	113147115	3	2	59	1	0	0	0	0	1	0	0	0	13312	246	9	4	12920	4	RGPD5	2	113147115	Missense_Mutation	SNP	A	TCGA-2G-AAKL-01A-11D-A42Y-10	47575177	113147115	130052258	12	4234											
DBI	1622	mdanderson.org	37	chr2	120129857	120129857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccatgaaagcttacatcaAcaaagtagaagagctaaaga	19	7	8	7	0	1	4	1	1	0	3	1	4	1	4	1	0	5	3	1	0	8	3			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:120129857A>G	ENST00000355857.3	+	4	358	c.227A>G	c.(226-228)aAc>aGc	p.N76S	DBI_ENST00000460901.1_3'UTR|DBI_ENST00000409094.1_Missense_Mutation_p.N93S|DBI_ENST00000535757.1_Missense_Mutation_p.N93S|DBI_ENST00000393103.2_Missense_Mutation_p.N77S|DBI_ENST00000311521.4_Missense_Mutation_p.N93S|DBI_ENST00000542275.1_Missense_Mutation_p.N137S|DBI_ENST00000535617.1_Missense_Mutation_p.N118S	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	76	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						GCTTACATCAACAAAGTAGAA	0.418																																					p.N137S													.	.			0			c.A410G												148	137	141					2																	120129857		2203	4300	6503	SO:0001583	missense	1622	exon4			ACATCAACAAAGT	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"endozepine"	125950	"diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.227A>G	2.37:g.120129857A>G	ENSP00000348116:p.Asn76Ser		37	0	0		51	0.06	3	NM_001178017	707	0	0	B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	ENST00000355857.3	37	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.799611	0.31869	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.54	4.34	0.51931	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.878096	0.10375	N	0.682270	T	0.10766	0.0263	N	0.05592	-0.015	0.09310	N	1	B;B;B;B;B	0.15141	0.0;0.012;0.003;0.0;0.0	B;B;B;B;B	0.21917	0.007;0.037;0.007;0.004;0.002	T	0.25082	-1.0142	10	0.09843	T	0.71	10.3937	9.6925	0.40136	0.8265:0.1735:0.0:0.0	.	86;118;77;93;76	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	S	76;118;93;93;93;137;77	ENSP00000348116:N76S;ENSP00000442917:N118S;ENSP00000439012:N93S;ENSP00000386486:N93S;ENSP00000311117:N93S;ENSP00000440698:N137S;ENSP00000376815:N77S	ENSP00000311117:N93S	N	+	2	0	DBI	119846327	0.000000	0.05858	0.879000	0.34478	0.920000	0.55202	0.393000	0.20817	2.326000	0.78906	0.533000	0.62120	AAC			0.418	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330590.1		NM_020548		G	120129857	A	G	120129857	3	3	59	1	0	0	0	0	1	0	0	0	4253	43	2	4	547	4	DBI	2	120129857	Missense_Mutation	SNP	A	TCGA-2G-AAKL-01A-11D-A42Y-10	6982742	120129857	123069516	13	4235											
DLX2	1746	broad.mit.edu	37	chr2	172967030	172967030	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtagggcgagcccccGccgccgccgccgcccgccgg	2	2	16	21	10	0	0	0	0	0	0	0	1	0	0	8	2	2	1	8	2	1	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:172967030G>C	ENST00000234198.4	-	1	598	c.237C>G	c.(235-237)ggC>ggG	p.G79G	AC104801.1_ENST00000448117.1_lincRNA|DLX2_ENST00000466293.2_Silent_p.G79G	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	79	Poly-Gly.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCGAgcccccgccgccgccgc	0.677																																					p.G79G	GBM(188;775 2993 11256 23072)												.	DLX2	29		0			c.C237G												20	23	22					2																	172967030		2191	4286	6477	SO:0001819	synonymous_variant	1746	exon1			GCCCCCGCCGCCG	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.237C>G	2.37:g.172967030G>C			98	0.1224489796	12		108	0.12	13	NM_004405	1	0	0	B4DMK4|B7ZA14	Silent	SNP	ENST00000234198.4	37	CCDS2248.1																																																																																					0.677	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255368.3				C	172967030	G	C	172967030	2	2	59	1	0	0	0	0	0	0	0	1	4576	1074	38	5		5	DLX2	2	172967030	Silent	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	52837173	172967030	70232343	14	4236											
IHH	3549	mdanderson.org	37	chr2	219925070	219925070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcacgagtttgcgtggCggtcgccggcggctgcccac	4	6	17	14	7	0	0	0	0	0	0	1	1	0	0	2	5	3	3	2	5	0	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr2:219925070C>T	ENST00000295731.6	-	1	119	c.120G>A	c.(118-120)ccG>ccA	p.P40P	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	40					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTTGCGTGGCGGTCGCCGGC	0.697																																					p.P40P													.	.			0			c.G120A												21	26	24					2																	219925070		2186	4291	6477	SO:0001819	synonymous_variant	3549	exon1			GCGTGGCGGTCGC	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.120G>A	2.37:g.219925070C>T			55	0	0		48	0.06	3	NM_002181	2	0	0	B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	CCDS33380.1																																																																																					0.697	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336408.2		NM_002181		T	219925070	C	T	219925070	2	4	59	1	0	0	0	0	0	0	0	1	7622	755	27	1		1	IHH	2	219925070	Silent	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	46958040	219925070	23274303	15	4237											
NAT6	24142	mdanderson.org	37	chr3	50334945	50334945	+	De_novo_Start_InFrame	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggctgggccagggctcaGagtcagctcttgcctatgca	6	10	13	12	0	3	1	2	0	1	1	3	1	3	1	2	3	3	4	2	3	1	3			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr3:50334945G>T	ENST00000443842.1	-	0	757				HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000417393.1_De_novo_Start_InFrame|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_De_novo_Start_InFrame|NAT6_ENST00000354862.4_Missense_Mutation_p.L6M			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)							cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCAGGGCTCAGAGTCAGCTCT	0.607																																					p.L6M													.	.			0			c.C16A												54	56	55					3																	50334945		2128	4245	6373			24142	exon2			GGCTCAGAGTCAG	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"N-acetyltransferase 6"			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939		3.37:g.50334945G>T			73	0	0		44	0.07	3	NM_012191	30	0	0	Q93014	Missense_Mutation	SNP	ENST00000443842.1	37	CCDS56258.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488651	0.64074	.	.	ENSG00000243477	ENST00000354862	.	.	.	4.38	3.5	0.40072	.	.	.	.	.	T	0.75369	0.3840	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.76710	-0.2859	7	0.87932	D	0	-12.4658	8.6647	0.34114	0.1104:0.0:0.8896:0.0	.	6	Q93015-2	.	M	6	.	ENSP00000346927:L6M	L	-	1	2	NAT6	50309949	0.937000	0.31787	0.989000	0.46669	0.937000	0.57800	1.495000	0.35627	1.148000	0.42385	0.561000	0.74099	CTG			0.607	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000346681.1		NM_012191		T	50334945	G	T	50334945	1	4	59	1	0	1	0	0	0	0	0	0	10194	933	33	3		3	NAT6	3	50334945	De_novo_Start_InFrame	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		50334945	147687485	16	4238											
CHST2	9435	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	142839860	142839860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctatgcactgctgctggtgCtcactatgctcaacctcctg	6	12	9	14	0	2	0	2	0	0	0	3	0	3	0	2	1	6	6	2	1	3	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr3:142839860C>T	ENST00000309575.3	+	2	1586	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	68					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						GCTGCTGGTGCTCACTATGCT	0.682																																					p.L68F													.	.			0			c.C202T												26	17	20					3																	142839860		2176	4262	6438	SO:0001583	missense	9435	exon2			CTGGTGCTCACTA	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.202C>T	3.37:g.142839860C>T	ENSP00000307911:p.Leu68Phe		76	0	0		95	0.17	16	NM_004267	11	0.18	2	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291132	0.23564	.	.	ENSG00000175040	ENST00000309575	D	0.98717	-5.09	3.91	3.91	0.45181	.	0.090379	0.45126	U	0.000385	D	0.96297	0.8792	L	0.29908	0.895	0.49213	D	0.999766	B	0.17852	0.024	B	0.15870	0.014	D	0.94741	0.7919	10	0.87932	D	0	-11.9271	15.6779	0.77341	0.0:1.0:0.0:0.0	.	68	Q9Y4C5	CHST2_HUMAN	F	68	ENSP00000307911:L68F	ENSP00000307911:L68F	L	+	1	0	CHST2	144322550	0.349000	0.24870	1.000000	0.80357	0.014000	0.08584	0.349000	0.20055	1.988000	0.58038	0.462000	0.41574	CTC			0.682	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354850.1		NM_004267		T	142839860	C	T	142839860	3	4	59	1	0	0	0	0	1	0	0	0	3406	797	28	2	204	2	CHST2	3	142839860	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	92504915	142839860	55182570	17	4239											
LRBA	987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	151829586	151829586	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaattgaatgcattgcacTttggatggaatgtgttaaaa	13	14	9	5	0	0	1	0	1	0	0	1	3	1	3	1	2	2	3	1	2	5	4			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr4:151829586T>G	ENST00000357115.3	-	11	1636	c.1393A>C	c.(1393-1395)Agt>Cgt	p.S465R	LRBA_ENST00000535741.1_Missense_Mutation_p.S465R|LRBA_ENST00000507224.1_Missense_Mutation_p.S465R|LRBA_ENST00000510413.1_Missense_Mutation_p.S465R	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	465						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCATTGCACTTTGGATGGAA	0.323																																					p.S465R													.	.			0			c.A1393C												113	105	107					4																	151829586		2203	4300	6503	SO:0001583	missense	987	exon11			TTGCACTTTGGAT	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1393A>C	4.37:g.151829586T>G	ENSP00000349629:p.Ser465Arg		245	0	0		219	0.33	73	NM_006726	5	0.6	3	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575320	0.86645	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.986;0.995;0.997	T	0.63616	-0.6597	10	0.35671	T	0.21	.	16.1358	0.81487	0.0:0.0:0.0:1.0	.	465;465;465	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	R	465	ENSP00000446299:S465R;ENSP00000421552:S465R;ENSP00000349629:S465R;ENSP00000422180:S465R	ENSP00000349629:S465R	S	-	1	0	LRBA	152049036	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.993000	0.88291	2.261000	0.74972	0.460000	0.39030	AGT			0.323	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000364939.1				G	151829586	T	G	151829586	3	3	59	1	0	0	0	0	1	0	0	0	8947	1609	56	4	7390	4	LRBA	4	151829586	Missense_Mutation	SNP	T	TCGA-2G-AAKL-01A-11D-A42Y-10		151829586	39324690	18	4240											
ODZ3	55714	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	183609373	183609373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatgggggggacgtgtcGctgtgaagaaggctggacgg	7	8	20	6	3	0	2	0	1	0	1	1	4	0	4	0	6	1	3	0	6	2	1	rs147392905	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr4:183609373G>A	ENST00000511685.1	+	12	2213	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R697H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	697	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGACGTGTCGCTGTGAAGAA	0.592													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		14740	0		0	False		,,,				2504	0				p.R697H													.	.			0			c.G2090A							G	HIS/ARG	12,3986		0,12,1987	97	106	103		2090	5.2	1	4	dbSNP_134	103	0,8356		0,0,4178	yes	missense	ODZ3	NM_001080477.1	29	0,12,6165	AA,AG,GG		0.0,0.3002,0.0971	benign	697/2700	183609373	12,12342	1999	4178	6177	SO:0001583	missense	55714	exon11			CGTGTCGCTGTGA	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2090G>A	4.37:g.183609373G>A	ENSP00000424226:p.Arg697His		84	0	0		70	0.33	23	NM_001080477	6	1	6	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	3	0.0013736263736263737	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	0	0.0	G	12.70	2.017389	0.35606	0.003002	0.0	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.03272	3.99;3.99	5.17	5.17	0.71159	Epidermal growth factor-like (1);EGF-like region, conserved site (2);	.	.	.	.	T	0.08891	0.0220	L	0.45137	1.4	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.01524	-1.1333	9	0.45353	T	0.12	.	18.8567	0.92255	0.0:0.0:1.0:0.0	.	697	Q9P273	TEN3_HUMAN	H	697	ENSP00000424226:R697H;ENSP00000385276:R697H	ENSP00000385276:R697H	R	+	2	0	ODZ3	183846367	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	5.238000	0.65366	2.696000	0.92011	0.650000	0.86243	CGC	0.001		0.592	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361734.1				A	183609373	G	A	183609373	3	1	59	1	0	0	0	0	1	0	0	0	10853	1087	38	1	2132	1	ODZ3	4	183609373	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	31779787	183609373	7544903	19	4241											
PCDHB4	56131	broad.mit.edu	37	chr5	140502496	140502496	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatactgttgaaaaaaaaaTtggatttcgaaaaaattaaa	23	11	5	2	1	0	1	0	1	0	0	1	3	0	2	0	1	1	1	0	1	11	5			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr5:140502496T>A	ENST00000194152.1	+	1	916	c.916T>A	c.(916-918)Ttg>Atg	p.L306M	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	306	Cadherin 3. {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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L306M(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAAAAAAATTGGATTTCGA	0.373																																					p.L306M													PCDHB4,colon,carcinoma,-1,2	PCDHB4	177	2	1	Substitution - Missense(1)	large_intestine(1)	c.T916A												95	112	106					5																	140502496		2201	4300	6501	SO:0001583	missense	0	exon1			AAAAAATTGGATT	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.916T>A	5.37:g.140502496T>A	ENSP00000194152:p.Leu306Met		125	0	0		103	0.04	4	NM_018938	0		0	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913151	0.33815	.	.	ENSG00000081818	ENST00000194152	T	0.74842	-0.88	4.41	-0.985	0.10256	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85725	0.5763	M	0.93854	3.465	0.22017	N	0.999411	D	0.89917	1.0	D	0.91635	0.999	T	0.72187	-0.4366	9	0.66056	D	0.02	.	2.9602	0.05890	0.1209:0.3848:0.1239:0.3705	.	306	Q9Y5E5	PCDB4_HUMAN	M	306	ENSP00000194152:L306M	ENSP00000194152:L306M	L	+	1	2	PCDHB4	140482680	0.000000	0.05858	0.691000	0.30163	0.889000	0.51656	-2.344000	0.01098	0.037000	0.15575	0.528000	0.53228	TTG			0.373	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251812.2		NM_018938		A	140502496	T	A	140502496	3	1	59	1	0	0	0	0	1	0	0	0	11561	1490	52	5	918	5	PCDHB4	5	140502496	Missense_Mutation	SNP	T	TCGA-2G-AAKL-01A-11D-A42Y-10		140502496	40412764	20	4242											
PECI	10455	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	4133832	4133832	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacttcgtttcctggatccTttttcaagagtttcacttga	7	18	6	10	1	3	2	3	1	0	1	6	3	5	3	2	1	0	2	2	1	1	6			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr6:4133832T>C	ENST00000380118.3	-	2	200	c.164A>G	c.(163-165)aAg>aGg	p.K55R	RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000361538.2_Missense_Mutation_p.K25R|ECI2_ENST00000413766.2_5'UTR|RP3-400B16.1_ENST00000427049.2_lincRNA|ECI2_ENST00000380125.2_Missense_Mutation_p.K25R|ECI2_ENST00000465828.1_Missense_Mutation_p.K25R			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	55	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TCCTGGATCCTTTTTCAAGAG	0.398																																					p.K55R													ECI2_ENST00000380118,NS,malignant_melanoma,0,2	ECI2	59	2	0			c.A164G												217	201	206					6																	4133832		2203	4300	6503	SO:0001583	missense	10455	exon2			GGATCCTTTTTCA	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.164A>G	6.37:g.4133832T>C	ENSP00000369461:p.Lys55Arg		134	0	0		184	0.04	7	NM_206836	60	0	0	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191753	0.78902	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.98	5.98	0.97165	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	21.516500	0.00166	N	0.000000	T	0.31796	0.0808	M	0.78223	2.4	0.80722	D	1	B	0.20988	0.05	B	0.35899	0.213	T	0.34850	-0.9812	10	0.54805	T	0.06	.	14.4143	0.67139	0.0:0.0:0.0:1.0	.	55	O75521	ECI2_HUMAN	R	55;25;25;25;102	ENSP00000369461:K55R;ENSP00000369468:K25R;ENSP00000354737:K25R;ENSP00000420309:K25R;ENSP00000417459:K102R	ENSP00000354737:K25R	K	-	2	0	ECI2	4078831	0.659000	0.27411	0.999000	0.59377	0.997000	0.91878	3.003000	0.49505	2.289000	0.77006	0.533000	0.62120	AAG			0.398	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039716.4		NM_006117		C	4133832	T	C	4133832	3	2	59	1	0	0	0	0	1	0	0	0	11733	1609	56	4	1056	4	PECI	6	4133832	Missense_Mutation	SNP	T	TCGA-2G-AAKL-01A-11D-A42Y-10		4133832	166981235	21	4243											
C6orf27	80737	broad.mit.edu	37	chr6	31733784	31733784	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggccgctgaatctgggAcctccagccacaggcggccc	6	4	14	17	3	1	1	0	1	1	0	2	2	2	2	6	5	1	1	6	5	1	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr6:31733784A>C	ENST00000375688.4	-	16	2575	c.2375T>G	c.(2374-2376)gTc>gGc	p.V792G	VWA7_ENST00000375686.3_Missense_Mutation_p.V792G|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'Flank			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	792						extracellular region (GO:0005576)											TGAATCTGGGACCTCCAGCCA	0.627																																					p.V792G													.	.			0			c.T2375G												89	113	104					6																	31733784		1508	2707	4215	SO:0001583	missense	80737	exon16			TCTGGGACCTCCA		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.2375T>G	6.37:g.31733784A>C	ENSP00000364840:p.Val792Gly		84	0.380952381	32		121	0.27	33	NM_025258	2	0.5	1	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333629	0.81801	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.18016	2.46;2.24	4.75	4.75	0.60458	.	0.415822	0.21513	N	0.073344	T	0.13372	0.0324	L	0.32530	0.975	0.80722	D	1	P	0.51791	0.948	P	0.55577	0.779	T	0.02378	-1.1168	10	0.38643	T	0.18	-19.5948	10.8128	0.46557	1.0:0.0:0.0:0.0	.	792	Q9Y334	G7C_HUMAN	G	792	ENSP00000364840:V792G;ENSP00000364838:V792G	ENSP00000364838:V792G	V	-	2	0	C6orf27	31841763	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.046000	0.57376	2.125000	0.65367	0.460000	0.39030	GTC			0.627	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076233.2		NM_025258		C	31733784	A	C	31733784	3	2	59	1	0	0	0	0	1	0	0	0	2364	275	10	4	307	4	C6orf27	6	31733784	Missense_Mutation	SNP	A	TCGA-2G-AAKL-01A-11D-A42Y-10	27599952	31733784	139381283	22	4244											
TNXB	7148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	32023843	32023843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtccaggagaggctcagcGagtcaggggaggatcctgtc	8	7	17	9	1	2	1	2	0	0	1	5	5	4	3	2	6	1	1	2	6	0	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr6:32023843G>A	ENST00000375244.3	-	24	8453	c.8252C>T	c.(8251-8253)tCg>tTg	p.S2751L	TNXB_ENST00000375247.2_Missense_Mutation_p.S2751L			P22105	TENX_HUMAN	tenascin XB	2809	Fibronectin type-III 19. {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						GAGGCTCAGCGAGTCAGGGGA	0.677																																					p.S2751L													.	.			0			c.C8252T												58	65	63					6																	32023843		1259	2538	3797	SO:0001583	missense	7148	exon24			CTCAGCGAGTCAG	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.8252C>T	6.37:g.32023843G>A	ENSP00000364393:p.Ser2751Leu		67	0	0		77	0.25	19	NM_019105	5	0.6	3	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	19.73	3.881711	0.72294	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.63417	-0.04;-0.04	5.0	5.0	0.66597	.	.	.	.	.	T	0.77922	0.4203	M	0.91459	3.21	0.22926	N	0.998555	D	0.89917	1.0	D	0.91635	0.999	T	0.72181	-0.4368	9	0.72032	D	0.01	.	12.9561	0.58427	0.0:0.1635:0.8365:0.0	.	2751	P22105-3	.	L	2751	ENSP00000364393:S2751L;ENSP00000364396:S2751L	ENSP00000364393:S2751L	S	-	2	0	TNXB	32131821	0.998000	0.40836	0.892000	0.35008	0.869000	0.49853	4.024000	0.57218	2.317000	0.78254	0.456000	0.33151	TCG			0.677	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000268927.2		NM_019105		A	32023843	G	A	32023843	3	1	59	1	0	0	0	0	1	0	0	0	16369	1059	37	1	6545	1	TNXB	6	32023843	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	290059	32023843	139091224	23	4245											
FNDC1	84624	mdanderson.org	37	chr6	159653813	159653813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccaccaactccaatGcgccatcacggtccaccatg	10	5	6	20	2	1	0	1	0	0	0	3	0	3	0	8	1	3	0	8	1	2	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr6:159653813G>T	ENST00000297267.9	+	11	2469	c.2269G>T	c.(2269-2271)Gcg>Tcg	p.A757S	FNDC1_ENST00000340366.6_Missense_Mutation_p.A694S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	757	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAACTCCAATGCGCCATCACG	0.622																																					p.A757S													FNDC1,NS,carcinoma,-2,1	FNDC1	-2	1	0			c.G2269T												43	47	45					6																	159653813		2151	4253	6404	SO:0001583	missense	84624	exon11			TCCAATGCGCCAT	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2269G>T	6.37:g.159653813G>T	ENSP00000297267:p.Ala757Ser		87	0	0		62	0.06	4	NM_032532	8	0	0	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.760|6.760	0.509055|0.509055	0.12883|0.12883	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.08102|.	3.13;3.91|.	4.72|4.72	-2.15|-2.15	0.07102|0.07102	.|.	2.138480|.	0.01384|.	N|.	0.013028|.	T|T	0.07593|0.07593	0.0191|0.0191	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.0|.	T|T	0.36065|0.36065	-0.9763|-0.9763	10|5	0.20519|.	T|.	0.43|.	-0.8234|-0.8234	3.949|3.949	0.09361|0.09361	0.4105:0.0:0.3293:0.2602|0.4105:0.0:0.3293:0.2602	.|.	694;757|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	S|F	757;694|652	ENSP00000297267:A757S;ENSP00000342460:A694S|.	ENSP00000297267:A757S|.	A|C	+|+	1|2	0|0	FNDC1|FNDC1	159573803|159573803	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.158000|-0.158000	0.10070|0.10070	-0.162000|-0.162000	0.10964|0.10964	-0.152000|-0.152000	0.13540|0.13540	GCG|TGC			0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042897.3		NM_032532		T	159653813	G	T	159653813	3	4	59	1	0	0	0	0	1	0	0	0	5981	1319	46	2	2311	2	FNDC1	6	159653813	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	127629970	159653813	11461254	24	4246											
SCIN	85477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	12644158	12644158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaaatttatcagtggtgtgGttcctcgtgcaacaaatatg	11	13	11	6	1	1	0	1	0	0	0	3	1	2	1	1	3	2	2	1	3	5	4			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr7:12644158G>C	ENST00000297029.5	+	4	637	c.536G>C	c.(535-537)gGt>gCt	p.G179A	SCIN_ENST00000445618.2_5'UTR|SCIN_ENST00000519209.1_5'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	179	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGTGGTGTGGTTCCTCGTGC	0.403																																					p.G179A													.	.			0			c.G536C												229	186	199					7																	12644158		692	1591	2283	SO:0001583	missense	85477	exon4			GGTGTGGTTCCTC	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.536G>C	7.37:g.12644158G>C	ENSP00000297029:p.Gly179Ala		97	0	0		138	0.16	22	NM_001112706	0		0	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632218	0.87660	.	.	ENSG00000006747	ENST00000297029;ENST00000523729;ENST00000518849	D;D;D	0.96522	-4.04;-1.7;-1.7	5.46	5.46	0.80206	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	H	0.97265	3.97	0.80722	D	1	P	0.48998	0.918	P	0.54312	0.748	D	0.99391	1.0925	10	0.66056	D	0.02	-18.4111	19.6796	0.95957	0.0:0.0:1.0:0.0	.	179	Q9Y6U3	ADSV_HUMAN	A	179;20;20	ENSP00000297029:G179A;ENSP00000429598:G20A;ENSP00000428555:G20A	ENSP00000297029:G179A	G	+	2	0	SCIN	12610683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.064000	0.93933	2.733000	0.93635	0.591000	0.81541	GGT			0.403	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326041.1		NM_033128		C	12644158	G	C	12644158	3	2	59	1	0	0	0	0	1	0	0	0	13928	1261	44	5	550	5	SCIN	7	12644158	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		12644158	146494505	25	4247											
YKT6	10652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	44240804	44240804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgctcaaagccgcatacGatgtgtcttccttcagcttt	7	14	8	12	2	3	0	2	0	1	0	4	1	4	0	2	0	5	4	2	0	2	4			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr7:44240804G>A	ENST00000223369.2	+	1	157	c.70G>A	c.(70-72)Gat>Aat	p.D24N	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Missense_Mutation_p.D24N	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	24	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						AGCCGCATACGATGTGTCTTC	0.657																																					p.D24N													.	.			0			c.G70A												57	38	45					7																	44240804		2203	4300	6503	SO:0001583	missense	10652	exon1			GCATACGATGTGT	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"R-SNARE"	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.70G>A	7.37:g.44240804G>A	ENSP00000223369:p.Asp24Asn		167	0	0		230	0.23	54	NM_006555	186	0.26	48	B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	ENST00000223369.2	37	CCDS5482.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693665	0.88735	.	.	ENSG00000106636	ENST00000496112;ENST00000223369	T	0.24151	1.87	3.7	2.82	0.32997	Longin (2);Longin-like (1);	0.049544	0.85682	D	0.000000	T	0.34395	0.0896	M	0.71036	2.16	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.49332	0.607;0.503	T	0.21621	-1.0240	10	0.62326	D	0.03	-3.413	10.205	0.43107	0.1024:0.0:0.8976:0.0	.	24;24	B4DR94;O15498	.;YKT6_HUMAN	N	24	ENSP00000223369:D24N	ENSP00000223369:D24N	D	+	1	0	YKT6	44207329	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.622000	0.90953	0.901000	0.36495	0.561000	0.74099	GAT			0.657	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251125.2		NM_006555		A	44240804	G	A	44240804	3	1	59	1	0	0	0	0	1	0	0	0	17509	1058	37	1	72	1	YKT6	7	44240804	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	31596646	44240804	114897859	26	4248											
OR2A2	442361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	143806941	143806941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacctaatgaaccagaaaaGaaccatctcctttgttccat	16	10	4	11	0	1	3	0	1	1	2	3	3	2	3	5	0	3	1	5	0	6	3	rs139387901		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr7:143806941G>C	ENST00000408979.2	+	1	335	c.266G>C	c.(265-267)aGa>aCa	p.R89T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R89K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AACCAGAAAAGAACCATCTCC	0.418																																					p.R89T													OR2A2,upper_arm,malignant_melanoma,0,1	OR2A2	0	1	1	Substitution - Missense(1)	skin(1)	c.G266C												243	227	232					7																	143806941		2040	4218	6258	SO:0001583	missense	442361	exon1			AGAAAAGAACCAT		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.266G>C	7.37:g.143806941G>C	ENSP00000386209:p.Arg89Thr		226	0	0		245	0.17	42	NM_001005480	0		0	B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	2.638	-0.284738	0.05605	.	.	ENSG00000221989	ENST00000408979	T	0.37752	1.18	3.61	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28034	0.0691	L	0.48986	1.54	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.34925	-0.9809	9	0.72032	D	0.01	-0.5461	4.6715	0.12691	0.5455:0.1803:0.2742:0.0	.	89	Q6IF42	OR2A2_HUMAN	T	89	ENSP00000386209:R89T	ENSP00000386209:R89T	R	+	2	0	OR2A2	143437874	0.000000	0.05858	0.084000	0.20598	0.060000	0.15804	-2.504000	0.00964	-0.243000	0.09653	0.609000	0.83330	AGA			0.418	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349978.1				C	143806941	G	C	143806941	3	2	59	1	0	0	0	0	1	0	0	0	10994	942	33	5	268	5	OR2A2	7	143806941	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	99566137	143806941	15331722	27	4249											
CSMD1	64478	broad.mit.edu	37	chr8	3015436	3015436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccaatgcacaggggagacGgatagttccaacggcgaacg	13	5	13	10	4	0	1	0	0	0	1	1	4	1	2	2	4	4	2	2	4	5	3			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:3015436G>T	ENST00000520002.1	-	40	6455	c.5900C>A	c.(5899-5901)cCg>cAg	p.P1967Q	CSMD1_ENST00000602557.1_Missense_Mutation_p.P1967Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1966Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1966Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1967Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1967Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1966Q|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1967	Sushi 11. {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)		CAGGGGAGACGGATAGTTCCA	0.468																																					p.P1966Q													CSMD1_ENST00000537824,NS,carcinoma,0,2	CSMD1	1469	2	0			c.C5897A												51	51	51					8																	3015436		1977	4107	6084	SO:0001583	missense	64478	exon39			GGAGACGGATAGT			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.5900C>A	8.37:g.3015436G>T	ENSP00000430733:p.Pro1967Gln		329	0	0		315	0.02	5	NM_033225	1	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	17.61	3.432116	0.62844	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.82958	0.5150	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.97110	1.0;1.0;1.0;0.985	D	0.84894	0.0838	10	0.87932	D	0	.	18.8861	0.92378	0.0:0.0:1.0:0.0	.	1967;1967;1966;1967	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	Q	1967;1967;1828;1966;1966;1966	ENSP00000383047:P1967Q;ENSP00000430733:P1967Q;ENSP00000441462:P1966Q;ENSP00000446243:P1966Q;ENSP00000441675:P1966Q	ENSP00000320445:P1828Q	P	-	2	0	CSMD1	3002843	1.000000	0.71417	0.948000	0.38648	0.039000	0.13416	9.150000	0.94667	2.538000	0.85594	0.655000	0.94253	CCG			0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225		T	3015436	G	T	3015436	3	4	59	1	0	0	0	0	1	0	0	0	3946	1116	39	1	4925	1	CSMD1	8	3015436	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		3015436	143348586	28	4250											
RP1L1	94137	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	10464479	10464479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggggcgagacttccgagtgCctggtcctcttgtaggtcat	5	11	15	10	2	2	1	1	0	1	1	4	3	4	1	3	4	1	1	3	4	1	3			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:10464479C>T	ENST00000382483.3	-	4	7352	c.7129G>A	c.(7129-7131)Gca>Aca	p.A2377T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2457					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCCGAGTGCCTGGTCCTCT	0.532																																					p.A2377T													.	RP1L1	453		0			c.G7129A												109	114	113					8																	10464479		1919	4116	6035	SO:0001583	missense	94137	exon4			CGAGTGCCTGGTC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7129G>A	8.37:g.10464479C>T	ENSP00000371923:p.Ala2377Thr		94	0.0106382979	1		79	0.16	13	NM_178857	0		0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	2.280	-0.364847	0.05103	.	.	ENSG00000183638	ENST00000382483	T	0.04049	3.72	4.29	-4.66	0.03329	.	3.426740	0.01241	U	0.008606	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41910	-0.9482	10	0.59425	D	0.04	5.5018	0.7975	0.01069	0.3127:0.2676:0.1007:0.3189	.	2377	A6NKC6	.	T	2377	ENSP00000371923:A2377T	ENSP00000371923:A2377T	A	-	1	0	RP1L1	10501889	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.465000	0.02357	-0.764000	0.04651	-2.005000	0.00442	GCA			0.532	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375673.1				T	10464479	C	T	10464479	3	4	59	1	0	0	0	0	1	0	0	0	13556	739	26	2	77	2	RP1L1	8	10464479	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	7449043	10464479	135899543	29	4251											
STC1	6781	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	23702390	23702398	+	In_Frame_Del	DEL	TGTTGAAGT	TGTTGAAGT	-																															cggctcattggtgcgtctccTgttgaagtcagctcgtgggt																										TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	TGTTGAAGT	TGTTGAAGT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:23702390_23702398delTGTTGAAGT	ENST00000290271.2	-	4	912_920	c.629_637delACTTCAACA	c.(628-639)gacttcaacagg>ggg	p.210_213DFNR>G	STC1_ENST00000524323.1_In_Frame_Del_p.141_144DFNR>G	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	210					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.N212S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTGCGTCTCCTGTTGAAGTCAGCTCGTGG	0.55																																					p.210_213del													.	STC1	49		1	Substitution - Missense(1)	prostate(1)	c.630_638del																																									SO:0001651	inframe_deletion	6781	exon4			GTCTCCTGTTGAA		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.629_637delACTTCAACA	8.37:g.23702390_23702398delTGTTGAAGT	ENSP00000290271:p.Asp210_Arg213delinsGly		230	0	0		183	0	0	NM_003155	11	0	0	B4DN22|Q71UE5	In_Frame_Del	DEL	ENST00000290271.2	37	CCDS6043.1																																																																																					0.55	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215143.1				-	23702398	TGTTGAAGT	-	23702390	7	5	59	1	0	1	0	1	0	0	0	0	15298	1579	55	0	110	0	STC1	8	23702390	In_Frame_Del	DEL	TGTTGAAGT	TCGA-2G-AAKL-01A-11D-A42Y-10	13237911	23702390	122661632	30	4252			1	9		2	2	12	N	TGTTGAAGT_GCTCGT	2.629442e-05
STC1	6781	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	23702401	23702406	+	In_Frame_Del	DEL	GCTCGT	GCTCGT	-																															tgcgtctcctgttgaagtcaGctcgtgggtgtgtttgggca																										TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	GCTCGT	GCTCGT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:23702401_23702406delGCTCGT	ENST00000290271.2	-	4	904_909	c.621_626delACGAGC	c.(619-627)ccacgagct>cct	p.RA208del	STC1_ENST00000524323.1_In_Frame_Del_p.RA139del	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	208					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTTGAAGTCAGCTCGTGGGTGTGTTT	0.553																																					p.208_209del													.	STC1	49		0			c.622_627del																																									SO:0001651	inframe_deletion	6781	exon4			AAGTCAGCTCGTG		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.621_626delACGAGC	8.37:g.23702401_23702406delGCTCGT	ENSP00000290271:p.Arg208_Ala209del		228	0	0		182	0.12	21	NM_003155	12	0	0	B4DN22|Q71UE5	In_Frame_Del	DEL	ENST00000290271.2	37	CCDS6043.1																																																																																					0.553	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215143.1				-	23702406	GCTCGT	-	23702401	7	5	59	1	0	1	0	1	0	0	0	0	15298	971	34	0	121	0	STC1	8	23702401	In_Frame_Del	DEL	GCTCGT	TCGA-2G-AAKL-01A-11D-A42Y-10	11	23702401	122661621	31	4253			1	9		2	2	12	N	TGTTGAAGT_GCTCGT	2.629442e-05
VPS13B	157680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	100479794	100479794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctacgggacctgatacaCgacattcatttgttgtctgt	8	15	9	9	2	2	1	1	1	1	0	2	3	2	2	1	1	3	2	1	1	2	6	rs140353201		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:100479794C>G	ENST00000358544.2	+	24	3709	c.3598C>G	c.(3598-3600)Cga>Gga	p.R1200G	VPS13B_ENST00000395996.1_Missense_Mutation_p.R1200G|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1200G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1200					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)			ACCTGATACACGACATTCATT	0.423																																					p.R1200G	Colon(161;2205 2542 7338 31318)												.	.			0			c.C3598G												200	171	181					8																	100479794		2203	4300	6503	SO:0001583	missense	157680	exon24			GATACACGACATT	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.3598C>G	8.37:g.100479794C>G	ENSP00000351346:p.Arg1200Gly		168	0	0		190	0.15	29	NM_152564	3	0.33	1	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	4.734	0.136576	0.09032	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.46063	0.88;0.88;0.88	5.62	4.49	0.54785	.	0.104626	0.64402	D	0.000005	T	0.31231	0.0790	L	0.37630	1.12	0.34973	D	0.753311	B;B;B;B	0.18610	0.013;0.014;0.003;0.029	B;B;B;B	0.19666	0.016;0.026;0.003;0.024	T	0.32771	-0.9894	10	0.45353	T	0.12	.	7.2626	0.26212	0.7566:0.1677:0.0757:0.0	.	1199;1200;1200;1200	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	G	1200	ENSP00000349685:R1200G;ENSP00000351346:R1200G;ENSP00000379318:R1200G	ENSP00000349685:R1200G	R	+	1	2	VPS13B	100548970	0.943000	0.32029	0.380000	0.26093	0.966000	0.64601	2.179000	0.42528	0.988000	0.38734	0.561000	0.74099	CGA			0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000277138.1		NM_184042		G	100479794	C	G	100479794	3	3	59	1	0	0	0	0	1	0	0	0	17214	528	19	5	3811	5	VPS13B	8	100479794	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	76777393	100479794	45884228	32	4254											
GPR172A	79581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145583775	145583775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccttctggtcgcttcagCtgctgccttccagggtcttc	2	14	10	15	1	3	0	1	0	2	0	6	0	4	0	3	2	4	3	3	2	0	4			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr8:145583775C>A	ENST00000532887.1	+	3	1206	c.623C>A	c.(622-624)gCt>gAt	p.A208D	SLC52A2_ENST00000526752.1_Intron|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A208D|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A208D|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A208D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A208D|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A120D|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	208					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GTCGCTTCAGCTGCTGCCTTC	0.642																																					p.A208D													.	.			0			c.C623A												59	60	60					8																	145583775		2203	4298	6501	SO:0001583	missense	79581	exon3			CTTCAGCTGCTGC	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.623C>A	8.37:g.145583775C>A	ENSP00000436768:p.Ala208Asp		63	0	0		115	0.25	29	NM_024531	184	0.28	51	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396870	0.42512	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.76;-0.96;-0.96;-0.96;-0.74	4.49	3.61	0.41365	.	0.180800	0.46758	D	0.000270	T	0.73745	0.3626	N	0.19112	0.55	0.39942	D	0.974429	D	0.89917	1.0	D	0.85130	0.997	T	0.71543	-0.4561	9	.	.	.	.	10.238	0.43294	0.0:0.9005:0.0:0.0995	.	208	Q9HAB3	RFT3_HUMAN	D	208;208;44;208;208;208;120	ENSP00000435820:A208D;ENSP00000434728:A208D;ENSP00000433583:A44D;ENSP00000385961:A208D;ENSP00000436768:A208D;ENSP00000333638:A208D;ENSP00000440400:A120D	.	A	+	2	0	GPR172A	145554583	0.970000	0.33590	0.483000	0.27378	0.384000	0.30261	3.020000	0.49643	0.885000	0.36088	0.462000	0.41574	GCT			0.642	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382405.1		NM_024531		A	145583775	C	A	145583775	3	1	59	1	0	0	0	0	1	0	0	0	6683	797	28	2	629	2	GPR172A	8	145583775	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	45103981	145583775	780247	33	4255											
KIAA2026	158358	mdanderson.org	37	chr9	6007725	6007725	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctctccttcggccgcCggtggcggccgctcttcctc	0	11	11	19	6	2	0	0	0	2	0	8	0	4	0	6	4	0	1	6	4	0	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:6007725C>T	ENST00000399933.3	-	1	62	c.63G>A	c.(61-63)ccG>ccA	p.P21P	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Silent_p.P21P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	21										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTTCGGCCGCCGGTGGCGGCC	0.746																																					p.P21P													.	.			0			c.G63A												6	7	7					9																	6007725		1235	3101	4336	SO:0001819	synonymous_variant	158358	exon1			GGCCGCCGGTGGC	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.63G>A	9.37:g.6007725C>T			50	0	0		58	0.05	3	NM_001017969	2	0	0	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37																																																																																						0.746	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000051652.2		NM_001017969		T	6007725	C	T	6007725	2	4	59	1	0	0	0	0	0	0	0	1	8285	639	23	1		1	KIAA2026	9	6007725	Silent	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10		6007725	135205706	34	4256											
PRSS3	5646	hgsc.bcm.edu	37	chr9	33797828	33797828	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgccctgcccatcagcCgcatccaggtgagactggga	7	7	12	15	1	1	1	1	1	0	1	2	3	2	2	5	2	4	1	5	2	0	0	rs143209949		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:33797828C>T	ENST00000361005.5	+	3	373	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	PRSS3_ENST00000429677.3_Splice_Site_p.R61C|PRSS3_ENST00000379405.3_Splice_Site_p.R68C|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Splice_Site_p.R82C	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCCCATCAGCCGCATCCAGGT	0.577													c|||	1	0.000199681	0	0	5008	,	,		21123	0		0.001	False		,,,				2504	0				p.R125C													PRSS3_ENST00000361005,NS,carcinoma,-1,2	PRSS3_ENST00000361005	-1	2	0			c.C373T												106	97	100					9																	33797828		2203	4300	6503	SO:0001630	splice_region_variant	5646	exon3			ATCAGCCGCATCC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.372-1C>T	9.37:g.33797828C>T			121	0.0082644628	1		103	0.06	6	NM_007343	0		0	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045597	0.36085	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	3.38	2.48	0.30137	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.193106	0.56097	D	0.000021	D	0.89729	0.6799	L	0.55213	1.73	0.51233	D	0.999918	D;D;D	0.76494	0.986;0.999;0.986	P;P;P	0.62885	0.765;0.908;0.701	D	0.87067	0.2157	10	0.66056	D	0.02	.	4.6046	0.12371	0.214:0.6633:0.0:0.1227	.	68;125;82	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	C	125;80;82;61;68	ENSP00000354280:R125C;ENSP00000401249:R80C;ENSP00000340889:R82C;ENSP00000401828:R61C;ENSP00000368715:R68C	ENSP00000340889:R82C	R	+	1	0	PRSS3	33787828	0.896000	0.30565	0.865000	0.33974	0.073000	0.16967	1.513000	0.35823	0.551000	0.29008	-0.643000	0.03959	CGC	0.001		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000052121.1		NM_002771	Missense_Mutation	T	33797828	C	T	33797828	5	4	59	1	0	0	0	0	0	0	1	0	12642	666	23	1	427	1	PRSS3	9	33797828	Splice_Site	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	27790103	33797828	107415603	35	4257											
RECK	8434	bcgsc.ca	37	chr9	36037093	36037093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcctggctccgggcagtgCgggtgagtaacctccagagc	6	6	17	12	2	0	2	0	1	0	1	2	2	2	2	4	4	3	3	4	4	1	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:36037093C>T	ENST00000377966.3	+	1	664	c.98C>T	c.(97-99)gCg>gTg	p.A33V	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	33					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)			CCGGGCAGTGCGGGTGAGTAA	0.741																																					p.A33V													.	RECK	73		0			c.C98T												4	7	6					9																	36037093		1507	2989	4496	SO:0001583	missense	8434	exon1			GCAGTGCGGGTGA	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.98C>T	9.37:g.36037093C>T	ENSP00000367202:p.Ala33Val		24	0	0		22	0.18	4	NM_021111	18	0	0	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	8.986	0.976528	0.18736	.	.	ENSG00000122707	ENST00000377966	T	0.42900	0.96	4.49	1.42	0.22433	.	1.144190	0.06485	N	0.733624	T	0.23572	0.0570	N	0.08118	0	0.25954	N	0.982714	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.25187	-1.0139	10	0.59425	D	0.04	4.5671	5.7509	0.18146	0.0:0.6095:0.0:0.3905	.	33;33;33	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	V	33	ENSP00000367202:A33V	ENSP00000367202:A33V	A	+	2	0	RECK	36027093	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	1.902000	0.39848	0.207000	0.20607	0.650000	0.86243	GCG			0.741	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052409.1				T	36037093	C	T	36037093	3	4	59	1	0	0	0	0	1	0	0	0	13223	768	27	1	100	1	RECK	9	36037093	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	2239265	36037093	105176338	36	4258											
TOR1B	27348	mdanderson.org	37	chr9	132565665	132565665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcgccgagtgctgccgCgaggagcggccgctcaacgc	5	5	15	16	8	1	0	1	0	0	0	2	3	1	1	3	2	4	3	3	2	1	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:132565665C>T	ENST00000259339.2	+	1	234	c.174C>T	c.(172-174)cgC>cgT	p.R58R	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	58					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				AGTGCTGCCGCGAGGAGCGGC	0.746																																					p.R58R													.	.			0			c.C174T												13	14	14					9																	132565665		1928	3803	5731	SO:0001819	synonymous_variant	27348	exon1			CTGCCGCGAGGAG	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.174C>T	9.37:g.132565665C>T			25	0	0		20	0.15	3	NM_014506	20	0	0		Silent	SNP	ENST00000259339.2	37	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	C	4.772	0.143517	0.09134	.	.	ENSG00000136816	ENST00000427860	.	.	.	5.15	-0.206	0.13193	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	T	0.28267	-1.0049	4	.	.	.	.	7.1905	0.25822	0.0:0.4461:0.4021:0.1518	.	.	.	.	V	40	.	.	A	+	2	0	TOR1B	131605486	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.052000	0.14163	-0.332000	0.08489	-1.001000	0.02504	GCG			0.746	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054615.1		NM_014506		T	132565665	C	T	132565665	2	4	59	1	0	0	0	0	0	0	0	1	16398	755	27	1		1	TOR1B	9	132565665	Silent	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	96528572	132565665	8647766	37	4259											
ABL1	25	mdanderson.org	37	chr9	133759942	133759942	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccacatttggagggcaCaaaagtgagaagccggctct	11	8	12	10	2	1	1	0	1	1	1	3	3	2	2	2	3	1	2	2	3	3	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:133759942C>T	ENST00000318560.5	+	11	2646	c.2265C>T	c.(2263-2265)caC>caT	p.H755H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	755					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)			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)	TTGGAGGGCACAAAAGTGAGA	0.607			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																p.H774H				Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	.			0			c.C2322T												35	36	36					9																	133759942		2203	4300	6503	SO:0001819	synonymous_variant	25	exon11			AGGGCACAAAAGT	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.2265C>T	9.37:g.133759942C>T			72	0	0		39	0.08	3	NM_007313	35	0	0	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																					0.607	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054684.1		NM_007313		T	133759942	C	T	133759942	2	4	59	1	0	0	0	0	0	0	0	1	92	477	17	3		3	ABL1	9	133759942	Silent	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	1194277	133759942	7453489	38	4260											
KIAA1984	84960	mdanderson.org	37	chr9	139700593	139700593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctggagctgcagatggagGactgtgaggagtggcgggtg	8	7	20	6	1	0	2	0	1	0	1	0	6	0	6	1	6	2	2	1	6	0	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr9:139700593G>T	ENST00000338005.6	+	10	1047	c.1012G>T	c.(1012-1014)Gac>Tac	p.D338Y	RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000357466.2_5'Flank|KIAA1984_ENST00000371682.3_3'UTR|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000311502.7_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		338										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCAGATGGAGGACTGTGAGGA	0.637																																					p.D338Y													.	.			0			c.G1012T												29	40	37					9																	139700593		2073	4207	6280	SO:0001583	missense	84960	exon10			ATGGAGGACTGTG																												ENST00000338005.6:c.1012G>T	9.37:g.139700593G>T	ENSP00000338013:p.Asp338Tyr		52	0	0		42	0.07	3	NM_001039374	2	0	0	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056166	0.76074	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.14391	2.51	5.07	5.07	0.68467	.	0.460071	0.16849	U	0.197001	T	0.27278	0.0669	L	0.59436	1.845	0.80722	D	1	P	0.51537	0.946	P	0.54026	0.74	T	0.00893	-1.1524	10	0.87932	D	0	-18.8372	13.9593	0.64168	0.0:0.0:1.0:0.0	.	338	Q5T5S1	K1984_HUMAN	Y	338	ENSP00000338013:D338Y	ENSP00000338013:D338Y	D	+	1	0	KIAA1984	138820414	0.999000	0.42202	0.985000	0.45067	0.952000	0.60782	6.119000	0.71590	2.339000	0.79563	0.561000	0.74099	GAC			0.637	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354899.1				T	139700593	G	T	139700593	3	4	59	1	0	0	0	0	1	0	0	0	8281	1174	41	3	1050	3	KIAA1984	9	139700593	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	5940651	139700593	1512838	39	4261											
ARID5B	84159	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	63700112	63700118	+	Frame_Shift_Del	DEL	AACCCTA	AACCCTA	-																															ctgctgaagtacaggcagtcAaccctaaacagtggactcaa																										TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	AACCCTA	AACCCTA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr10:63700112_63700118delAACCCTA	ENST00000279873.7	+	3	857_863	c.447_453delAACCCTA	c.(445-453)tcaaccctafs	p.STL149fs		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	149					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)					ACAGGCAGTCAACCCTAAACAGTGGAC	0.449																																					p.149_151del													.	ARID5B	125		0			c.446_452del																																									SO:0001589	frameshift_variant	84159	exon3			GCAGTCAACCCTA	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.447_453delAACCCTA	10.37:g.63700112_63700118delAACCCTA	ENSP00000279873:p.Ser149fs		141	0	0		83	0.43	36	NM_032199	2	0	0	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	CCDS31208.1																																																																																					0.449	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048233.1		XM_084482		-	63700118	AACCCTA	-	63700112	7	5	59	1	0	1	0	1	0	0	0	0	922	117	5	0	457	0	ARID5B	10	63700112	Frame_Shift_Del	DEL	AACCCTA	TCGA-2G-AAKL-01A-11D-A42Y-10		63700112	71834635	40	4262											
NRAP	4892	mdanderson.org	37	chr10	115423606	115423606	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttctcggcaggataaacCccatacccacacctagaaca	14	7	5	15	1	2	1	0	0	2	1	3	2	2	2	4	2	3	1	4	2	5	4			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr10:115423606C>A	ENST00000359988.3	-	1	280	c.36G>T	c.(34-36)ggG>ggT	p.G12G	NRAP_ENST00000369358.4_Silent_p.G12G|NRAP_ENST00000360478.3_Silent_p.G12G|NRAP_ENST00000369360.3_Silent_p.G12G	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGATAAACCCCATACCCAC	0.453																																					p.G12G													.	.			0			c.G36T												117	106	110					10																	115423606		2203	4300	6503	SO:0001819	synonymous_variant	4892	exon1			ATAAACCCCATAC		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.36G>T	10.37:g.115423606C>A			73	0	0		49	0.06	3	NM_001261463	0		0		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																					0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050425.2		NM_006175		A	115423606	C	A	115423606	2	1	59	1	0	0	0	0	0	0	0	1	10655	610	22	3		3	NRAP	10	115423606	Silent	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	51723494	115423606	20111141	41	4263											
WDR11	55717	broad.mit.edu	37	chr10	122643308	122643308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggcagtatttggcagtcGtattcagagataaacccctg	11	12	10	8	1	1	1	1	0	0	1	2	2	1	1	2	2	1	4	2	2	5	6	rs562054895		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr10:122643308G>T	ENST00000263461.6	+	14	2002	c.1756G>T	c.(1756-1758)Gta>Tta	p.V586L	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	243					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						TTTGGCAGTCGTATTCAGAGA	0.348																																					p.V586L													.	WDR11	95		0			c.G1756T												105	101	103					10																	122643308		2203	4300	6503	SO:0001583	missense	55717	exon14			GCAGTCGTATTCA	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.1756G>T	10.37:g.122643308G>T	ENSP00000263461:p.Val586Leu		131	0	0		95	0.03	3	NM_018117	41	0	0	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648362	0.29336	.	.	ENSG00000120008	ENST00000263461	T	0.52295	0.67	5.86	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);	0.116646	0.56097	D	0.000021	T	0.39462	0.1079	N	0.17723	0.515	0.54753	D	0.999988	B;B;P	0.44281	0.305;0.305;0.831	B;B;P	0.46685	0.109;0.109;0.524	T	0.12604	-1.0541	10	0.20519	T	0.43	-12.4527	14.8478	0.70272	0.0691:0.0:0.9309:0.0	.	586;586;115	Q9BZH6;B2RCJ6;Q659C9	WDR11_HUMAN;.;.	L	586	ENSP00000263461:V586L	ENSP00000263461:V586L	V	+	1	0	WDR11	122633298	1.000000	0.71417	0.999000	0.59377	0.483000	0.33249	3.886000	0.56190	1.462000	0.47948	0.650000	0.86243	GTA			0.348	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050707.2				T	122643308	G	T	122643308	3	4	59	1	0	0	0	0	1	0	0	0	17297	1145	40	1	1810	1	WDR11	10	122643308	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	7219702	122643308	12891439	42	4264											
FANK1	92565	mdanderson.org	37	chr10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccgaccatggagcccCagagtaagggaggcccgggc	10	2	16	13	2	0	1	0	0	0	1	0	4	0	3	5	4	3	2	5	4	1	1	rs202109621		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X													.	.			0			c.C10T												8	12	11					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*		16	0	0		17	0.29	5	NM_145235	4	0	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG			0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_145235		T	127585221	C	T	127585221	4	4	59	1	0	0	0	0	0	1	0	0	5685	595	21	3	12	3	FANK1	10	127585221	Nonsense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	4941913	127585221	7949526	43	4265											
CKAP4	10970	mdanderson.org	37	chr12	106633037	106633037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaggaagtcctgaggaGgcagacgggcggcctgggct	7	6	18	10	2	0	2	0	1	0	1	2	4	2	4	3	6	0	2	3	6	1	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr12:106633037G>T	ENST00000378026.4	-	2	1710	c.1574C>A	c.(1573-1575)cCt>cAt	p.P525H	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	525						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						GTCCTGAGGAGGCAGACGGGC	0.592																																					p.P525H													.	.			0			c.C1574A												68	67	67					12																	106633037		2203	4300	6503	SO:0001583	missense	10970	exon2			TGAGGAGGCAGAC	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.1574C>A	12.37:g.106633037G>T	ENSP00000367265:p.Pro525His		46	0	0		52	0.06	3	NM_006825	188	0	0	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877565	0.17395	.	.	ENSG00000136026	ENST00000378026	T	0.44083	0.93	5.27	3.11	0.35812	.	0.605730	0.16257	N	0.222401	T	0.31420	0.0796	L	0.47716	1.5	0.09310	N	1	B	0.24721	0.11	B	0.17433	0.018	T	0.16897	-1.0387	10	0.41790	T	0.15	-20.9738	5.6412	0.17565	0.181:0.0:0.5609:0.2581	.	525	Q07065	CKAP4_HUMAN	H	525	ENSP00000367265:P525H	ENSP00000367265:P525H	P	-	2	0	CKAP4	105157167	0.012000	0.17670	0.325000	0.25375	0.598000	0.36846	0.274000	0.18680	1.238000	0.43771	-0.143000	0.13931	CCT			0.592	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407196.1				T	106633037	G	T	106633037	3	4	59	1	0	0	0	0	1	0	0	0	3446	1000	35	3	238	3	CKAP4	12	106633037	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		106633037	27218858	44	4266											
KNTC1	9735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	123057483	123057483	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttaacacttttgttttaGaaagattatcagaacacaga	16	14	5	6	0	1	4	1	0	0	4	1	4	1	4	0	0	2	1	0	0	5	7			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr12:123057483G>A	ENST00000333479.7	+	25	2196		c.e25-1		KNTC1_ENST00000450485.2_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTTGTTTTAGAAAGATTATC	0.303																																					.													.	.			0			c.2020-1G>A												46	40	42					12																	123057483		1816	4069	5885	SO:0001630	splice_region_variant	9735	exon25			GTTTTAGAAAGAT		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2020-1G>A	12.37:g.123057483G>A			81	0	0		85	0.31	26	NM_014708	2	0	0	A7E2C4|B3KSG2	Splice_Site	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545677	0.65198	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	.	.	.	5.45	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0706	0.25177	0.0696:0.1245:0.6768:0.1291	.	.	.	.	.	-1	.	.	.	+	.	.	KNTC1	121623436	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	0.446000	0.21694	0.261000	0.21753	0.655000	0.94253	.			0.303	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396110.2			Intron	A	123057483	G	A	123057483	5	1	59	1	0	0	0	0	0	0	1	0	8443	956	33	3	2113	3	KNTC1	12	123057483	Splice_Site	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	16424446	123057483	10794412	45	4267											
MIPEP	4285	broad.mit.edu	37	chr13	24436484	24436484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatccctcgtatcatcTcaaaatctttcagagttcta	10	17	3	11	1	6	1	4	0	3	1	9	1	7	1	1	0	0	2	1	0	4	6			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr13:24436484T>C	ENST00000382172.3	-	9	1108	c.1010A>G	c.(1009-1011)gAg>gGg	p.E337G		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	337					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TCGTATCATCTCAAAATCTTT	0.279																																					p.E337G													.	MIPEP	53		0			c.A1010G												48	45	46					13																	24436484		2196	4287	6483	SO:0001583	missense	4285	exon9			ATCATCTCAAAAT		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1010A>G	13.37:g.24436484T>C	ENSP00000371607:p.Glu337Gly		510	0	0		426	0.01	5	NM_005932	27	0	0	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	T	8.888	0.953302	0.18431	.	.	ENSG00000027001	ENST00000382172	T	0.10192	2.9	4.79	3.59	0.41128	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.407837	0.28694	N	0.014452	T	0.09069	0.0224	L	0.29908	0.895	0.30232	N	0.795804	B	0.10296	0.003	B	0.15870	0.014	T	0.06338	-1.0832	10	0.46703	T	0.11	.	11.7181	0.51666	0.0:0.0:0.1481:0.8519	.	337	Q99797	MIPEP_HUMAN	G	337	ENSP00000371607:E337G	ENSP00000371607:E337G	E	-	2	0	MIPEP	23334484	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	4.422000	0.59854	0.939000	0.37446	-0.313000	0.08912	GAG			0.279	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044169.1				C	24436484	T	C	24436484	3	2	59	1	0	0	0	0	1	0	0	0	9608	1551	54	4	1175	4	MIPEP	13	24436484	Missense_Mutation	SNP	T	TCGA-2G-AAKL-01A-11D-A42Y-10		24436484	90733394	46	4268											
C14orf50	145376	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	65054073	65054073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggggaaaagaaacgcatGacttttgttcagttcaggta	13	10	13	5	1	2	2	2	1	0	1	2	4	2	4	0	4	1	4	0	4	4	5			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr14:65054073G>A	ENST00000298705.1	+	10	969	c.873G>A	c.(871-873)atG>atA	p.M291I	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	291					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGAAACGCATGACTTTTGTTC	0.393																																					p.M291I													.	.			0			c.G873A												103	106	105					14																	65054073		2203	4300	6503	SO:0001583	missense	145376	exon10			ACGCATGACTTTT		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20097	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 50"	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.873G>A	14.37:g.65054073G>A	ENSP00000298705:p.Met291Ile		68	0	0		101	0.26	26	NM_172365	4	0.5	2	Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810935	0.50421	.	.	ENSG00000165807	ENST00000298705	T	0.33216	1.42	5.55	5.55	0.83447	.	0.070289	0.64402	D	0.000012	T	0.35278	0.0926	M	0.73962	2.25	0.38600	D	0.950646	B	0.25169	0.119	B	0.15052	0.012	T	0.20207	-1.0282	10	0.38643	T	0.18	-26.4133	15.0284	0.71687	0.0:0.0:1.0:0.0	.	291	Q96LQ0	PPR36_HUMAN	I	291	ENSP00000298705:M291I	ENSP00000298705:M291I	M	+	3	0	C14orf50	64123826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.471000	0.60182	2.596000	0.87737	0.655000	0.94253	ATG			0.393	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000280667.1		NM_172365		A	65054073	G	A	65054073	3	1	59	1	0	0	0	0	1	0	0	0	1779	1290	45	3	911	3	C14orf50	14	65054073	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		65054073	42295467	47	4269											
C14orf115	55237	mdanderson.org	37	chr14	74823869	74823869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgatcgactccaaagTgatgctgcaggccgtgcgct	8	8	14	11	3	0	2	0	2	0	0	2	3	1	2	2	2	3	4	2	2	1	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr14:74823869T>C	ENST00000256362.4	+	2	624	c.383T>C	c.(382-384)gTg>gCg	p.V128A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	128					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GACTCCAAAGTGATGCTGCAG	0.637																																					p.V128A													.	.			0			c.T383C												70	66	67					14																	74823869		2203	4300	6503	SO:0001583	missense	55237	exon2			CCAAAGTGATGCT	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.383T>C	14.37:g.74823869T>C	ENSP00000256362:p.Val128Ala		37	0	0		45	0.07	3	NM_018228	16	0	0	Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195408	0.78902	.	.	ENSG00000133980	ENST00000256362	T	0.44881	0.91	5.04	5.04	0.67666	.	0.081416	0.56097	D	0.000035	T	0.46521	0.1397	N	0.24115	0.695	0.43734	D	0.996224	D	0.67145	0.996	P	0.60473	0.875	T	0.50491	-0.8822	10	0.72032	D	0.01	-0.4685	13.4832	0.61348	0.0:0.0:0.0:1.0	.	128	Q9H8Y1	VRTN_HUMAN	A	128	ENSP00000256362:V128A	ENSP00000256362:V128A	V	+	2	0	VRTN	73893622	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.133000	0.77259	2.119000	0.64992	0.454000	0.30748	GTG			0.637	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412339.1		NM_018228		C	74823869	T	C	74823869	3	2	59	1	0	0	0	0	1	0	0	0	1742	1696	59	4	385	4	C14orf115	14	74823869	Missense_Mutation	SNP	T	TCGA-2G-AAKL-01A-11D-A42Y-10	9769796	74823869	32525671	48	4270											
LBXCOR1	390598	mdanderson.org	37	chr15	68125019	68125019	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagctgcaaattgtcagaGgtaagacgggagtcaggtga	14	7	14	6	1	2	3	2	1	0	2	2	4	2	4	0	3	3	3	0	3	3	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr15:68125019G>T	ENST00000380035.2	+	7	2795	c.2737G>T	c.(2737-2739)Gat>Tat	p.D913Y	SKOR1_ENST00000341418.5_Splice_Site_p.D816Y|RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000389002.1_Splice_Site_p.D869Y|SKOR1_ENST00000554054.1_Splice_Site_p.D885Y|SKOR1_ENST00000554240.1_Splice_Site_p.D874Y|RP11-34F13.3_ENST00000558889.1_RNA			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	913					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AATTGTCAGAGGTAAGACGGG	0.463											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D816Y													.	.			0			c.G2446T												62	58	60					15																	68125019		2200	4298	6498	SO:0001630	splice_region_variant	390598	exon13			GTCAGAGGTAAGA		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2737+1G>T	15.37:g.68125019G>T			43	0	0	1104	36	0.08	3	NM_001258024	0		0	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37		.	.	.	.	.	.	.	.	.	.	G	18.87	3.715220	0.68844	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.76578	-1.03;-1.0;-1.0;-1.0;-1.0	5.16	4.24	0.50183	.	0.121832	0.53938	D	0.000056	T	0.81230	0.4779	L	0.29908	0.895	0.53005	D	0.99996	D	0.89917	1.0	D	0.85130	0.997	T	0.83039	-0.0158	10	0.87932	D	0	-22.4353	13.2363	0.59971	0.0778:0.0:0.9222:0.0	.	869	P84550-3	.	Y	816;874;885;913;869	ENSP00000343200:D816Y;ENSP00000451193:D874Y;ENSP00000452361:D885Y;ENSP00000369374:D913Y;ENSP00000373654:D869Y	ENSP00000343200:D816Y	D	+	1	0	SKOR1	65912073	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.002000	0.93572	1.162000	0.42619	0.462000	0.41574	GAT			0.463	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000410832.1		NM_001031807	Missense_Mutation	T	68125019	G	T	68125019	5	4	59	1	0	0	0	0	0	0	1	0	8670	1014	35	3	2635	3	LBXCOR1	15	68125019	Splice_Site	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		68125019	34406373	49	4271											
CSPG4	1464	mdanderson.org	37	chr15	75968620	75968620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggcggaagcgcggCacactgcctgtgcggttggc	6	6	17	12	4	0	0	0	0	0	0	1	2	1	2	2	6	3	2	2	6	1	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr15:75968620C>T	ENST00000308508.5	-	10	6332	c.6240G>A	c.(6238-6240)gtG>gtA	p.V2080V	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	2080	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						GGAAGCGCGGCACACTGCCTG	0.726																																					p.V2080V													.	.			0			c.G6240A												14	14	14					15																	75968620		2190	4284	6474	SO:0001819	synonymous_variant	1464	exon10			GCGCGGCACACTG	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.6240G>A	15.37:g.75968620C>T			30	0	0		12	0.17	2	NM_001897	3	0	0	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																					0.726	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286472.1		NM_001897		T	75968620	C	T	75968620	2	4	59	1	0	0	0	0	0	0	0	1	3962	697	25	2		2	CSPG4	15	75968620	Silent	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	7843601	75968620	26562772	50	4272											
CHRNB4	1143	mdanderson.org	37	chr15	78922241	78922241	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggacgctgccgttggaccGgactatcaagttggtgtaga	9	9	14	9	3	1	1	1	0	0	1	1	4	1	4	2	4	1	4	2	4	3	4	rs141876090	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr15:78922241G>T	ENST00000261751.3	-	5	517	c.406C>A	c.(406-408)Cgg>Agg	p.R136R	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	136			R -> W (in dbSNP:rs141876090). {ECO:0000269|PubMed:11450844}.		action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|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)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CCGTTGGACCGGACTATCAAG	0.572																																					p.R136R													.	.			0			c.C406A	GRCh37	CM057870	CHRNB4	M	rs141876090							40	44	43					15																	78922241		2196	4292	6488	SO:0001819	synonymous_variant	1143	exon5			TGGACCGGACTAT	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.406C>A	15.37:g.78922241G>T			28	0	0		21	0.1	2	NM_000750	16	0	0	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	CCDS10306.1																																																																																					0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000290108.1				T	78922241	G	T	78922241	2	4	59	1	0	0	0	0	0	0	0	1	3395	1115	39	1		1	CHRNB4	15	78922241	Silent	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	2953621	78922241	23609151	51	4273											
ZNF785	146540	broad.mit.edu	37	chr16	30594036	30594036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatccaccgatgggcttccaGggcggtcttgcgcttgaagc	6	9	14	12	3	1	1	0	1	1	0	3	3	3	1	3	3	2	2	3	3	1	3			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr16:30594036G>T	ENST00000395216.2	-	3	1222	c.1063C>A	c.(1063-1065)Ctg>Atg	p.L355M	AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.L340M|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	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)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TGGGCTTCCAGGGCGGTCTTG	0.652																																					p.L355M													.	ZNF785	30		0			c.C1063A												57	61	60					16																	30594036		2197	4300	6497	SO:0001583	missense	146540	exon3			CTTCCAGGGCGGT	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.1063C>A	16.37:g.30594036G>T	ENSP00000378642:p.Leu355Met		53	0	0		44	0.07	3	NM_152458	8	0	0	O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	g	17.70	3.454582	0.63290	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.69040	-0.37;-0.37	4.33	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72486	0.3466	M	0.67953	2.075	0.09310	N	1	D;D;P	0.89917	0.959;1.0;0.95	P;D;P	0.87578	0.618;0.998;0.483	T	0.60915	-0.7168	9	0.87932	D	0	.	1.2726	0.02024	0.3211:0.1425:0.3911:0.1453	.	320;355;340	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	M	340;320;355	ENSP00000420340:L340M;ENSP00000378642:L355M	ENSP00000378642:L355M	L	-	1	2	ZNF785	30501537	0.000000	0.05858	0.000000	0.03702	0.947000	0.59692	-0.215000	0.09279	-0.616000	0.05671	0.644000	0.83932	CTG			0.652	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255529.2		NM_152458		T	30594036	G	T	30594036	3	4	59	1	0	0	0	0	1	0	0	0	18180	991	35	3	158	3	ZNF785	16	30594036	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		30594036	59760717	52	4274											
TMEM231	79583	mdanderson.org	37	chr16	75590079	75590079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggtaactgcgctcgaccGggtgagagaagagctcatag	10	6	15	10	5	1	3	1	1	0	2	2	5	1	3	1	2	3	3	1	2	3	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr16:75590079G>T	ENST00000258173.6	-	1	105	c.29C>A	c.(28-30)cCg>cAg	p.P10Q	TMEM231_ENST00000568377.1_Silent_p.R7R|TMEM231_ENST00000569294.1_5'Flank|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Missense_Mutation_p.P10Q	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	10					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCGCTCGACCGGGTGAGAGAA	0.672																																					p.R31R													.	.			0			c.C91A												6	7	6					16																	75590079		1820	3914	5734	SO:0001583	missense	79583	exon1			TCGACCGGGTGAG		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.29C>A	16.37:g.75590079G>T	ENSP00000258173:p.Pro10Gln		25	0.04	1		16	0.13	2	NM_001077416	4	0	0	A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Silent	SNP	ENST00000258173.6	37	CCDS45530.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541197	0.85917	.	.	ENSG00000205084	ENST00000258173	T	0.65364	-0.15	5.57	5.57	0.84162	.	.	.	.	.	T	0.81074	0.4747	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82436	-0.0458	8	0.66056	D	0.02	-7.1534	18.4998	0.90877	0.0:0.0:1.0:0.0	.	10	Q9H6L2	TM231_HUMAN	Q	10	ENSP00000258173:P10Q	ENSP00000258173:P10Q	P	-	2	0	TMEM231	74147580	1.000000	0.71417	0.966000	0.40874	0.969000	0.65631	7.930000	0.87610	2.780000	0.95670	0.655000	0.94253	CCG			0.672	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435481.2		NM_001077416		T	75590079	G	T	75590079	3	4	59	1	0	0	0	0	1	0	0	0	16172	1116	39	1	1042	1	TMEM231	16	75590079	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	44996043	75590079	14764674	53	4275											
RAI1	10743	mdanderson.org	37	chr17	17697105	17697105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctatgaccagcagcagcaGcagcagcagcagcagcagca	14	2	12	13	0	0	1	0	1	0	0	0	1	0	1	1	0	11	11	1	0	1	1	rs398124422|rs587780431		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr17:17697105G>A	ENST00000353383.1	+	3	1312	c.843G>A	c.(841-843)caG>caA	p.Q281Q	RAI1_ENST00000261641.6_Silent_p.Q281Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	281	Gln-rich.|Poly-Gln.				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)		agcagcagcagcagcagcagc	0.632																																					p.Q281Q													.	.			0			c.G843A												20	25	24					17																	17697105		2020	4001	6021	SO:0001819	synonymous_variant	10743	exon3			GCAGCAGCAGCAG	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.843G>A	17.37:g.17697105G>A			90	0.0222222222	2		78	0.05	4	NM_030665	0		0	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	CCDS11188.1																																																																																					0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131775.1		NM_030665		A	17697105	G	A	17697105	2	1	59	1	0	0	0	0	0	0	0	1	13030	962	34	2		2	RAI1	17	17697105	Silent	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		17697105	63498105	54	4276											
TJP3	27134	mdanderson.org	37	chr19	3746030	3746030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgtccaggaccgacaGcccctccaagatcatcaaac	12	6	8	15	1	2	1	2	0	0	1	4	4	4	2	5	1	2	0	5	1	2	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:3746030G>T	ENST00000541714.2	+	16	2423	c.1961G>T	c.(1960-1962)aGc>aTc	p.S654I	TJP3_ENST00000589378.1_Missense_Mutation_p.S663I|TJP3_ENST00000587686.1_Missense_Mutation_p.S673I|TJP3_ENST00000382008.3_Missense_Mutation_p.S668I|TJP3_ENST00000539908.2_Missense_Mutation_p.S618I|TJP3_ENST00000262968.9_Missense_Mutation_p.S687I	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	654	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACCGACAGCCCCTCCAAG	0.597																																					p.S663I													.	.			0			c.G1988T												64	56	59					19																	3746030		2203	4300	6503	SO:0001583	missense	27134	exon16			CCGACAGCCCCTC	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1961G>T	19.37:g.3746030G>T	ENSP00000439278:p.Ser654Ile		103	0	0		77	0.05	4	NM_001267561	43	0	0	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	14.27	2.483938	0.44147	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09163	3.01;3.18;3.01;3.11	4.35	3.27	0.37495	Guanylate kinase/L-type calcium channel (1);	0.320762	0.31648	N	0.007283	T	0.16854	0.0405	L	0.43923	1.385	0.47037	D	0.999294	P;P;P;P	0.50710	0.938;0.545;0.901;0.831	P;P;B;P	0.52909	0.555;0.499;0.368;0.713	T	0.00733	-1.1589	10	0.66056	D	0.02	.	11.3785	0.49743	0.0:0.1836:0.8164:0.0	.	673;687;668;654	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	I	654;618;668;687	ENSP00000439278:S654I;ENSP00000439991:S618I;ENSP00000371438:S668I;ENSP00000262968:S687I	ENSP00000262968:S687I	S	+	2	0	TJP3	3697030	0.865000	0.29922	0.384000	0.26145	0.283000	0.27025	1.330000	0.33781	0.772000	0.33382	0.462000	0.41574	AGC			0.597	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000453434.1				T	3746030	G	T	3746030	3	4	59	1	0	0	0	0	1	0	0	0	15954	971	34	2	2118	2	TJP3	19	3746030	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		3746030	55382953	55	4277											
ADAMTS10	81794	mdanderson.org	37	chr19	8665878	8665878	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataggccaccatcatcttGtcagccaccaccagggtctc	9	9	8	15	0	4	1	2	1	2	0	5	1	4	1	5	2	1	0	5	2	1	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:8665878G>A	ENST00000597188.1	-	6	1014	c.744C>T	c.(742-744)gaC>gaT	p.D248D	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Silent_p.D248D	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	248	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCATCATCTTGTCAGCCACCA	0.632																																					p.D248D													.	.			0			c.C744T												103	89	94					19																	8665878		2203	4300	6503	SO:0001819	synonymous_variant	81794	exon6			CATCTTGTCAGCC	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.744C>T	19.37:g.8665878G>A			64	0	0		67	0.06	4	NM_030957	0		0	M0QZE4	Silent	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289628	0.23478	.	.	ENSG00000142303	ENST00000393912	.	.	.	5.12	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.898	0.35476	0.1691:0.0:0.8309:0.0	.	.	.	.	X	1	.	ENSP00000377489:Q1X	Q	-	1	0	ADAMTS10	8571878	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.106000	0.41835	1.160000	0.42584	0.400000	0.26472	CAA			0.632	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460085.3		NM_030957		A	8665878	G	A	8665878	2	1	59	1	0	0	0	0	0	0	0	1	256	1368	48	3		3	ADAMTS10	19	8665878	Silent	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	4919848	8665878	50463105	56	4278											
ILVBL	10994	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	15230298	15230298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagaggcctcttggccCggctcaggatctccacacag	8	7	10	16	1	4	1	2	0	2	1	5	2	4	2	4	4	0	1	4	4	0	1	rs149721143		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:15230298C>T	ENST00000263383.3	-	8	984	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.R175Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	282						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCTCTTGGCCCGGCTCAGGAT	0.547													C|||	1	0.000199681	0	0	5008	,	,		17127	0		0	False		,,,				2504	0.001				p.R282Q													.	.			0			c.G845A							C	GLN/ARG	0,4406		0,0,2203	38	38	38		845	5.3	1	19	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense	ILVBL	NM_006844.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	282/633	15230298	1,13005	2203	4300	6503	SO:0001583	missense	10994	exon8			TTGGCCCGGCTCA	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.845G>A	19.37:g.15230298C>T	ENSP00000263383:p.Arg282Gln		237	0	0		209	0.05	11	NM_006844	70	0.03	2	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904677	0.72868	0.0	1.16E-4	ENSG00000105135	ENST00000263383	T	0.39997	1.05	5.28	5.28	0.74379	Thiamine pyrophosphate enzyme, central domain (1);	0.204150	0.43110	D	0.000614	T	0.33352	0.0860	L	0.32530	0.975	0.54753	D	0.999988	P	0.39116	0.66	B	0.34452	0.183	T	0.18555	-1.0333	10	0.49607	T	0.09	-32.5032	16.3909	0.83537	0.0:1.0:0.0:0.0	.	282	A1L0T0	ILVBL_HUMAN	Q	282	ENSP00000263383:R282Q	ENSP00000263383:R282Q	R	-	2	0	ILVBL	15091298	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.418000	0.66429	2.471000	0.83476	0.655000	0.94253	CGG	0		0.547	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385439.1		NM_006844		T	15230298	C	T	15230298	3	4	59	1	0	0	0	0	1	0	0	0	7730	652	23	1	1089	1	ILVBL	19	15230298	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	6564420	15230298	43898685	57	4279											
HSH2D	84941	broad.mit.edu	37	chr19	16268133	16268133	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccccaaaatcccctctTggagagacccgccagaaact	11	6	7	17	1	1	2	0	0	1	2	2	4	2	3	7	1	2	0	7	1	3	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:16268133T>G	ENST00000253680.6	+	8	1119	c.588T>G	c.(586-588)ctT>ctG	p.L196L	HSH2D_ENST00000397372.4_Silent_p.L107L|HSH2D_ENST00000593154.2_Silent_p.L196L|HSH2D_ENST00000588246.1_Silent_p.L196L			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	196					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						AATCCCCTCTTGGAGAGACCC	0.557																																					p.L196L													.	HSH2D	16		0			c.T588G												41	49	47					19																	16268133		1841	4080	5921	SO:0001819	synonymous_variant	84941	exon8			CCCTCTTGGAGAG	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.588T>G	19.37:g.16268133T>G			137	0.0510948905	7		104	0.06	6	NM_032855	10	0	0	B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37																																																																																						0.557	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_032855		G	16268133	T	G	16268133	2	3	59	1	0	0	0	0	0	0	0	1	7415	1799	63	4		4	HSH2D	19	16268133	Silent	SNP	T	TCGA-2G-AAKL-01A-11D-A42Y-10	1037835	16268133	42860850	58	4280											
ZNF676	163223	ucsc.edu	37	chr19	22363172	22363172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacattcttcacatttGtagggtttctctccagcatg	7	16	7	11	0	3	0	1	0	2	0	5	0	4	0	2	1	2	3	2	1	1	6			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:22363172G>A	ENST00000397121.2	-	3	1664	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	449					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCACATTTGTAGGGTTTCT	0.438																																					p.Y449Y													.	ZNF676	146		0			c.C1347T																																									SO:0001819	synonymous_variant	163223	exon3			ACATTTGTAGGGT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1347C>T	19.37:g.22363172G>A			78	0.0641025641	5		62	0.08	5	NM_001001411	58	0.16	9	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																					0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464392.1		NM_001001411		A	22363172	G	A	22363172	2	1	59	1	0	0	0	0	0	0	0	1	18106	1372	48	3		3	ZNF676	19	22363172	Silent	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	6095039	22363172	36765811	59	4281											
RHPN2	85415	mdanderson.org	37	chr19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcagctccagccgcaCttgctcccgcacctttgagt	7	9	9	16	2	1	1	1	1	0	0	3	2	3	1	4	0	4	5	4	0	1	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:33517507C>T	ENST00000254260.3	-	3	252	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V73M(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	Esophageal squamous(110;0.137)					TCCAGCCGCACTTGCTCCCGC	0.552																																					p.V73M													RHPN2,face,carcinoma,0,2	RHPN2	0	2	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A												84	83	83					19																	33517507		2203	4300	6503	SO:0001583	missense	85415	exon3			GCCGCACTTGCTC	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.217G>A	19.37:g.33517507C>T	ENSP00000254260:p.Val73Met		29	0	0		21	0.1	2	NM_033103	34	0	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542997	0.65198	.	.	ENSG00000131941	ENST00000254260	T	0.39787	1.06	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71984	-0.4427	10	0.87932	D	0	11.9954	16.025	0.80536	0.0:1.0:0.0:0.0	.	73	Q8IUC4	RHPN2_HUMAN	M	73	ENSP00000254260:V73M	ENSP00000254260:V73M	V	-	1	0	RHPN2	38209347	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.267000	0.78462	2.167000	0.68274	0.557000	0.71058	GTG			0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450828.2		NM_033103		T	33517507	C	T	33517507	3	4	59	1	0	0	0	0	1	0	0	0	13374	565	20	3	1895	3	RHPN2	19	33517507	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	11154335	33517507	25611476	60	4282											
CIC	23152	broad.mit.edu	37	chr19	42795827	42795828	+	Frame_Shift_Ins	INS	-	-	C																															gtgcggggtggaggggccggINSccagccactgccactggtga																								rs374527943|rs201351852|rs200818391	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:42795827_42795828insC	ENST00000575354.2	+	11	2856_2857	c.2816_2817insC	c.(2815-2820)ggccagfs	p.Q940fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.Q1849fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.Q940fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	940	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGAGGGGCCGGCCAGCCACTGC	0.693			"Mis, F, S"		oligodendroglioma																																p.G939fs				Rec	yes		19	19q13.2	23152	capicua homolog		O	.	CIC	249		0			c.2816_2817insC																																									SO:0001589	frameshift_variant	23152	exon11			GGGCCGGCCAGCC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2818dupC	19.37:g.42795829_42795829dupC	ENSP00000458663:p.Gln940fs		123	0	0		87	0.11	10	NM_015125	28	0	0	Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	CCDS12601.1																																																																																					0.693	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438532.2				C	42795828	-	C	42795827	7	5	59	1	0	1	1	0	0	0	0	0	3426	1203	42	0	2858	0	CIC	19	42795827	Frame_Shift_Ins	INS	-	TCGA-2G-AAKL-01A-11D-A42Y-10	9278320	42795827	16333156	61	4283											
MARK4	57787	broad.mit.edu	37	chr19	45801078	45801078	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaccggcgggcagggggTgggggtggtgggggtgtgca	3	5	27	6	3	0	0	0	0	0	0	0	1	0	1	1	10	1	2	1	10	0	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:45801078T>G	ENST00000262891.4	+	15	2074	c.1743T>G	c.(1741-1743)ggT>ggG	p.G581G	MARK4_ENST00000300843.4_Silent_p.G581G	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	581					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGCAGGGGGTGGGGGTGGTG	0.746																																					p.G581G													MARK4_ENST00000262891,NS,carcinoma,+2,2	MARK4	132	2	0			c.T1743G												2	3	3					19																	45801078		1753	3561	5314	SO:0001819	synonymous_variant	57787	exon15			AGGGGGTGGGGGT	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1743T>G	19.37:g.45801078T>G			40	0.175	7		28	0.25	7	NM_001199867	3	0.67	2	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	CCDS56097.1																																																																																					0.746	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457537.1		NM_031417		G	45801078	T	G	45801078	2	3	59	1	0	0	0	0	0	0	0	1	9331	1683	59	4		4	MARK4	19	45801078	Silent	SNP	T	TCGA-2G-AAKL-01A-11D-A42Y-10	3005251	45801078	13327905	62	4284											
KCNJ14	3770	broad.mit.edu	37	chr19	48967637	48967637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggtggtcattctcgaggGgatggttgaggccacagcca	7	9	16	9	1	2	1	1	1	1	0	3	3	2	2	2	6	1	2	2	6	0	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:48967637G>T	ENST00000391884.1	+	2	1390	c.914G>T	c.(913-915)gGg>gTg	p.G305V	CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.6_ENST00000597574.1_lincRNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.G305V|CTC-273B12.5_ENST00000600529.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	305					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	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;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	ATTCTCGAGGGGATGGTTGAG	0.577																																					p.P305L	NSCLC(148;170 3504 35216)												.	KCNJ14	28		0			c.C914T												110	81	91					19																	48967637		2203	4300	6503	SO:0001583	missense	3770	exon3			TCGAGGGGATGGT	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.914G>T	19.37:g.48967637G>T	ENSP00000375756:p.Gly305Val		122	0	0		94	0.04	4	NM_013348	2	0	0		Missense_Mutation	SNP	ENST00000391884.1	37	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662871	0.88251	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.95518	-3.73;-3.73	5.24	5.24	0.73138	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99312	1.0904	10	0.87932	D	0	.	17.1398	0.86749	0.0:0.0:1.0:0.0	.	305	Q9UNX9	IRK14_HUMAN	V	305	ENSP00000341479:G305V;ENSP00000375756:G305V	ENSP00000341479:G305V	G	+	2	0	KCNJ14	53659449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	GGG			0.577	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466127.1		NM_013348		T	48967637	G	T	48967637	3	4	59	1	0	0	0	0	1	0	0	0	8063	1232	43	3	920	3	KCNJ14	19	48967637	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	3166559	48967637	10161346	63	4285											
PLEKHA4	57664	mdanderson.org	37	chr19	49362295	49362295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtgtgaggtcgggcagggGgtgctgtgtctcctgagggg	3	9	23	6	1	1	2	0	2	1	0	3	2	1	2	1	7	1	2	1	7	0	0			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:49362295G>T	ENST00000263265.6	-	8	1349	c.794C>A	c.(793-795)cCc>cAc	p.P265H	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P265H|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	265	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCGGGCAGGGGGTGCTGTGTC	0.706																																					p.P265H													.	.			0			c.C794A												8	9	9					19																	49362295		2150	4205	6355	SO:0001583	missense	57664	exon8			GCAGGGGGTGCTG	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.794C>A	19.37:g.49362295G>T	ENSP00000263265:p.Pro265His		33	0.0606060606	2		36	0.08	3	NM_001161354	11	0	0	Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612788	0.46631	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.14766	3.04;2.48	4.18	1.87	0.25490	.	0.488841	0.19331	N	0.116886	T	0.10423	0.0255	N	0.24115	0.695	0.09310	N	1	P;P	0.48162	0.867;0.906	P;P	0.50378	0.639;0.533	T	0.16748	-1.0392	10	0.15499	T	0.54	.	4.49	0.11808	0.442:0.0:0.558:0.0	.	265;265	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	H	265	ENSP00000263265:P265H;ENSP00000347683:P265H	ENSP00000263265:P265H	P	-	2	0	PLEKHA4	54054107	0.051000	0.20477	0.009000	0.14445	0.962000	0.63368	0.643000	0.24750	0.515000	0.28320	0.400000	0.26472	CCC			0.706	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466216.1				T	49362295	G	T	49362295	3	4	59	1	0	0	0	0	1	0	0	0	12075	1232	43	3	1597	3	PLEKHA4	19	49362295	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	394658	49362295	9766688	64	4286											
KCNC3	3748	mdanderson.org	37	chr19	50831677	50831677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgtcgtccaggcctccGtcgtgggcgcctgcggcgtt	1	9	15	16	7	0	0	0	0	0	0	5	0	2	0	5	3	1	1	5	3	0	1			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:50831677G>T	ENST00000477616.1	-	1	957	c.663C>A	c.(661-663)gaC>gaA	p.D221E	NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000376959.2_Missense_Mutation_p.D221E|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	221					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)	CCAGGCCTCCGTCGTGGGCGC	0.796																																					p.D221E	Melanoma(91;1496 2324 50908)												.	.			0			c.C663A												2	3	3					19																	50831677		1255	2854	4109	SO:0001583	missense	3748	exon1			GCCTCCGTCGTGG	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.663C>A	19.37:g.50831677G>T	ENSP00000434241:p.Asp221Glu		13	0	0		10	0.2	2	NM_004977	0		0		Missense_Mutation	SNP	ENST00000477616.1	37	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	g	4.726	0.135003	0.09032	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.97850	-4.56;-4.57	2.03	-0.568	0.11760	.	.	.	.	.	D	0.90672	0.7074	N	0.17082	0.46	0.09310	N	0.999997	B	0.21606	0.058	B	0.12837	0.008	T	0.82100	-0.0624	9	0.02654	T	1	.	5.5012	0.16829	0.3534:0.0:0.6466:0.0	.	221	Q14003	KCNC3_HUMAN	E	221;221;35	ENSP00000366158:D221E;ENSP00000434241:D221E	ENSP00000366158:D221E	D	-	3	2	KCNC3	55523489	0.132000	0.22450	0.084000	0.20598	0.432000	0.31715	0.145000	0.16157	-0.191000	0.10448	0.154000	0.16183	GAC			0.796	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314288.2		NM_004977		T	50831677	G	T	50831677	3	4	59	1	0	0	0	0	1	0	0	0	8031	1136	40	1	1626	1	KCNC3	19	50831677	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	1469382	50831677	8297306	65	4287											
ZNF274	10782	mdanderson.org	37	chr19	58723675	58723675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttgcagggtggggtccaGgaagtccaagacacagtgtt	10	8	14	9	0	0	1	0	0	0	1	2	2	2	2	3	4	1	2	3	4	2	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr19:58723675G>T	ENST00000326804.4	+	9	1584	c.1125G>T	c.(1123-1125)caG>caT	p.Q375H	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.Q270H|ZNF274_ENST00000345813.3_Missense_Mutation_p.Q343H	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GTGGGGTCCAGGAAGTCCAAG	0.502																																					.													.	.			0			.												70	70	70					19																	58723675		1960	4143	6103	SO:0001583	missense	10782	.			GGTCCAGGAAGTC	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1125G>T	19.37:g.58723675G>T	ENSP00000321209:p.Gln375His		59	0	0		48	0.06	3	.	30	0	0	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37		.	.	.	.	.	.	.	.	.	.	G	12.63	1.996457	0.35226	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07567	3.28;3.18;3.19	5.6	-11.2	0.00127	.	1.321840	0.05561	N	0.569198	T	0.05547	0.0146	.	.	.	0.09310	N	1	P;P;P	0.51791	0.948;0.948;0.913	P;P;B	0.47162	0.54;0.54;0.339	T	0.06935	-1.0799	9	0.21540	T	0.41	-0.8542	4.0537	0.09806	0.5519:0.2135:0.16:0.0746	.	271;344;376	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	H	375;343;270	ENSP00000321209:Q375H;ENSP00000321187:Q343H;ENSP00000409872:Q270H	ENSP00000321209:Q375H	Q	+	3	2	ZNF274	63415487	0.004000	0.15560	0.000000	0.03702	0.113000	0.19764	0.116000	0.15561	-3.058000	0.00257	0.563000	0.77884	CAG			0.502	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_133502		T	58723675	G	T	58723675	3	4	59	1	0	0	0	0	1	0	0	0	17832	991	35	3	1153	3	ZNF274	19	58723675	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	7891998	58723675	405308	66	4288											
CHD6	84181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	40033237	40033237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaatgaaaaaagttctaaTtggtgtcgttgttggagtct	12	16	10	3	1	2	1	0	1	2	0	3	2	2	2	0	2	0	3	0	2	6	6			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr20:40033237T>C	ENST00000373233.3	-	37	8321	c.8144A>G	c.(8143-8145)aAt>aGt	p.N2715S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2715					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)				AAAGTTCTAATTGGTGTCGTT	0.458																																					p.N2715S													.	.			0			c.A8144G												97	105	102					20																	40033237		2203	4300	6503	SO:0001583	missense	84181	exon37			TTCTAATTGGTGT	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.8144A>G	20.37:g.40033237T>C	ENSP00000362330:p.Asn2715Ser		139	0	0		154	0.24	37	NM_032221	19	0.21	4	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898306	0.72639	.	.	ENSG00000124177	ENST00000373233	D	0.86627	-2.15	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000011	T	0.81389	0.4812	L	0.32530	0.975	0.80722	D	1	P	0.46395	0.877	B	0.37480	0.251	D	0.84182	0.0440	10	0.66056	D	0.02	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	2715	Q8TD26	CHD6_HUMAN	S	2715	ENSP00000362330:N2715S	ENSP00000362330:N2715S	N	-	2	0	CHD6	39466651	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.956000	0.70315	2.291000	0.77112	0.533000	0.62120	AAT			0.458	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079270.1				C	40033237	T	C	40033237	3	2	59	1	0	0	0	0	1	0	0	0	3331	1493	52	4	7	4	CHD6	20	40033237	Missense_Mutation	SNP	T	TCGA-2G-AAKL-01A-11D-A42Y-10		40033237	22992283	67	4289											
ADNP	23394	broad.mit.edu	37	chr20	49508788	49508788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttaaaccccagcaacacGccaggcttgtacttttcaca	12	10	6	13	1	1	0	1	0	0	0	1	0	1	0	3	1	4	4	3	1	4	5			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr20:49508788G>A	ENST00000396029.3	-	5	3030	c.2463C>T	c.(2461-2463)ggC>ggT	p.G821G	ADNP_ENST00000371602.4_Silent_p.G821G|ADNP_ENST00000349014.3_Silent_p.G821G|ADNP_ENST00000396032.3_Silent_p.G821G	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	821					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						CCAGCAACACGCCAGGCTTGT	0.398																																					p.G821G													.	ADNP	106		0			c.C2463T												97	93	95					20																	49508788		2203	4300	6503	SO:0001819	synonymous_variant	23394	exon5			CAACACGCCAGGC	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.2463C>T	20.37:g.49508788G>A			194	0	0		248	0.02	4	NM_015339	122	0	0	E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	CCDS13433.1																																																																																					0.398	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079705.2		NM_181442		A	49508788	G	A	49508788	2	1	59	1	0	0	0	0	0	0	0	1	323	1074	38	1		1	ADNP	20	49508788	Silent	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	9475551	49508788	13516732	68	4290											
KCNG1	3755	bcgsc.ca	37	chr20	49621194	49621194	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtagtagggcaggatGgccaccaggtcgatcagcgt	9	8	16	8	2	1	1	1	1	0	0	2	3	1	2	2	4	1	3	2	4	2	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr20:49621194G>T	ENST00000371571.4	-	3	1209	c.924C>A	c.(922-924)gcC>gcA	p.A308A	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	308					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGGCAGGATGGCCACCAGGT	0.687																																					p.A308A													.	KCNG1	86		0			c.C924A												23	23	23					20																	49621194		2192	4293	6485	SO:0001819	synonymous_variant	3755	exon3			CAGGATGGCCACC	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.924C>A	20.37:g.49621194G>T			74	0	0		80	0.06	5	NM_002237	9	0	0	A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	CCDS13436.1																																																																																					0.687	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079726.4		NM_002237		T	49621194	G	T	49621194	2	4	59	1	0	0	0	0	0	0	0	1	8042	1335	47	3		3	KCNG1	20	49621194	Silent	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	112406	49621194	13404326	69	4291											
ZNRF3	84133	mdanderson.org	37	chr22	29446448	29446448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagctcccagggcttgtacgGccttcaccccgaccatttgc	7	9	9	16	2	1	0	1	0	0	0	2	1	2	0	5	2	3	3	5	2	2	4			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr22:29446448G>A	ENST00000544604.2	+	8	2454	c.2279G>A	c.(2278-2280)gGc>gAc	p.G760D	ZNRF3_ENST00000402174.1_Missense_Mutation_p.G660D|ZNRF3_ENST00000332811.4_Missense_Mutation_p.G660D|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G660D	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	760					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						GGCTTGTACGGCCTTCACCCC	0.667																																					p.G760D													.	.			0			c.G2279A												15	16	16					22																	29446448		1901	4068	5969	SO:0001583	missense	84133	exon8			TGTACGGCCTTCA	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.2279G>A	22.37:g.29446448G>A	ENSP00000443824:p.Gly760Asp		37	0	0		41	0.07	3	NM_001206998	101	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241510	0.39598	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.91	4.91	0.64330	.	0.627487	0.17300	N	0.179292	D	0.82568	0.5065	L	0.47716	1.5	0.34846	D	0.741177	D	0.61080	0.989	P	0.57009	0.811	D	0.86972	0.2098	10	0.62326	D	0.03	-17.3899	17.9645	0.89096	0.0:0.0:1.0:0.0	.	760	Q9ULT6	ZNRF3_HUMAN	D	760;660;467;660;660	ENSP00000443824:G760D;ENSP00000328614:G660D;ENSP00000384456:G660D;ENSP00000384553:G660D	ENSP00000328614:G660D	G	+	2	0	ZNRF3	27776448	1.000000	0.71417	0.780000	0.31762	0.019000	0.09904	6.766000	0.74970	2.659000	0.90383	0.655000	0.94253	GGC			0.667	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972		A	29446448	G	A	29446448	3	1	59	1	0	0	0	0	1	0	0	0	18236	1203	42	2	2005	2	ZNRF3	22	29446448	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		29446448	21858118	70	4292											
PLA2G6	8398	mdanderson.org	37	chr22	38528898	38528898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcatccgcgttggccccGtgggtcagcagcactatggc	5	7	15	14	4	1	0	1	0	0	0	2	0	2	0	3	4	2	4	3	4	1	2			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr22:38528898G>T	ENST00000332509.3	-	7	1200	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	PLA2G6_ENST00000402064.1_Missense_Mutation_p.H339Q|PLA2G6_ENST00000335539.3_Missense_Mutation_p.H339Q	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	339					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CGTTGGCCCCGTGGGTCAGCA	0.706																																					p.H339Q													.	.			0			c.C1017A												42	26	31					22																	38528898		2175	4262	6437	SO:0001583	missense	8398	exon7			GGCCCCGTGGGTC	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1017C>A	22.37:g.38528898G>T	ENSP00000333142:p.His339Gln		59	0	0		39	0.08	3	NM_001004426	15	0	0	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.52|18.52	3.641213|3.641213	0.67244|0.67244	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.66460|.	-0.21;-0.21;-0.21|.	5.31|5.31	0.201|0.201	0.15186|0.15186	Ankyrin repeat-containing domain (3);|.	0.607593|.	0.17407|.	N|.	0.175332|.	T|T	0.54598|0.54598	0.1868|0.1868	L|L	0.45051|0.45051	1.395|1.395	0.52501|0.52501	D|D	0.999954|0.999954	D;P;P|.	0.76494|.	0.999;0.755;0.881|.	D;B;P|.	0.71184|.	0.972;0.371;0.842|.	T|T	0.48703|0.48703	-0.9012|-0.9012	10|5	0.66056|.	D|.	0.02|.	-10.2238|-10.2238	11.3098|11.3098	0.49358|0.49358	0.358:0.0:0.642:0.0|0.358:0.0:0.642:0.0	.|.	304;339;339|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	Q|K	339;200;339;339;267;339;304|144;91;170	ENSP00000333142:H339Q;ENSP00000335149:H339Q;ENSP00000386100:H339Q|.	ENSP00000333142:H339Q|.	H|T	-|-	3|2	2|0	PLA2G6|PLA2G6	36858844|36858844	0.610000|0.610000	0.26983|0.26983	0.941000|0.941000	0.38009|0.38009	0.883000|0.883000	0.51084|0.51084	-0.244000|-0.244000	0.08903|0.08903	0.229000|0.229000	0.21039|0.21039	-0.266000|-0.266000	0.10368|0.10368	CAC|ACG			0.706	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321860.1		NM_001004426		T	38528898	G	T	38528898	3	4	59	1	0	0	0	0	1	0	0	0	12025	1136	40	1	1447	1	PLA2G6	22	38528898	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	9082450	38528898	12775668	71	4293											
TCF20	6942	bcgsc.ca;mdanderson.org	37	chr22	42606966	42606966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaactgtttctgcatgtGtctctgtcttcactttgtca	6	18	7	10	0	5	0	2	0	3	0	6	0	5	0	0	0	2	3	0	0	1	4			TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chr22:42606966G>T	ENST00000359486.3	-	1	4482	c.4346C>A	c.(4345-4347)aCa>aAa	p.T1449K	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.T1449K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1449					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						TTCTGCATGTGTCTCTGTCTT	0.522																																					p.T1449K													.	TCF20	164		0			c.C4346A												137	131	133					22																	42606966		2203	4300	6503	SO:0001583	missense	6942	exon1			GCATGTGTCTCTG	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.4346C>A	22.37:g.42606966G>T	ENSP00000352463:p.Thr1449Lys		90	0.0111111111	1		71	0.07	5	NM_181492	33	0	0	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073289	0.20147	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.58797	0.31;0.31	5.8	4.79	0.61399	.	0.157268	0.44902	D	0.000403	T	0.41971	0.1182	N	0.24115	0.695	0.20307	N	0.999914	B;B	0.20459	0.045;0.026	B;B	0.21151	0.033;0.015	T	0.35968	-0.9767	10	0.52906	T	0.07	-0.0036	8.9215	0.35615	0.2701:0.0:0.7299:0.0	.	1449;1449	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	1449	ENSP00000352463:T1449K;ENSP00000335561:T1449K	ENSP00000335561:T1449K	T	-	2	0	TCF20	40936910	0.001000	0.12720	0.758000	0.31321	0.939000	0.58152	0.380000	0.20602	1.471000	0.48121	0.655000	0.94253	ACA			0.522	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320531.1		NM_181492		T	42606966	G	T	42606966	3	4	59	1	0	0	0	0	1	0	0	0	15713	1377	48	3	1574	3	TCF20	22	42606966	Missense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10	4078068	42606966	8697600	72	4294											
FAM104B	90736	mdanderson.org	37	chrX	55172630	55172630	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacccctcatgcaagaactGgggaaagtttgcatcgggtt	11	10	11	9	1	1	1	1	0	0	1	2	2	1	2	2	3	4	4	2	3	4	3	rs113263757		TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chrX:55172630G>A	ENST00000358460.4	-	3	388	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	FAM104B_ENST00000425133.2_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.Q78*|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.Q76*|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	79										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TGCAAGAACTGGGGAAAGTTT	0.493																																					p.Q80X													.	.			0			c.C238T												127	104	112					X																	55172630		2203	4300	6503	SO:0001587	stop_gained	90736	exon3			AGAACTGGGGAAA	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.235C>T	X.37:g.55172630G>A	ENSP00000364101:p.Gln79*		35	0	0		32	0.13	4	NM_001166700	58	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	11.17	1.559418	0.27827	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.6	1.6	0.23607	.	0.325359	0.21941	U	0.066869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.2487	6.0913	0.19995	0.0:0.0:1.0:0.0	.	.	.	.	X	79;80;80;76;78	.	ENSP00000333394:Q80X	Q	-	1	0	FAM104B	55189355	0.905000	0.30787	0.015000	0.15790	0.033000	0.12548	1.600000	0.36762	1.084000	0.41184	0.436000	0.28706	CAG			0.493	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		A	55172630	G	A	55172630	4	1	59	1	0	0	0	0	0	1	0	0	5396	1357	47	3	217	3	FAM104B	23	55172630	Nonsense_Mutation	SNP	G	TCGA-2G-AAKL-01A-11D-A42Y-10		55172630	100097930	73	4295			2	10		2	2	16	N	G_C	3.585585e-05
FAM104B	90736	mdanderson.org	37	chrX	55172645	55172645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaactggggaaagtttgcatCgggttcagtaacaatctggt	11	11	13	6	1	2	0	1	0	1	0	3	2	2	1	0	4	3	4	0	4	4	3	rs1047042	byFrequency	TCGA-2G-AAKL-01A-11D-A42Y-10	TCGA-2G-AAKL-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	613a20f3-ec26-4a16-95ef-e8781f91b5ff	f69d3441-7b55-4b9a-9d83-cf6a8f2c656d	g.chrX:55172645C>G	ENST00000358460.4	-	3	373	c.220G>C	c.(220-222)Gat>Cat	p.D74H	FAM104B_ENST00000425133.2_Missense_Mutation_p.D75H|FAM104B_ENST00000489298.1_Missense_Mutation_p.D73H|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Missense_Mutation_p.D75H|FAM104B_ENST00000477847.2_Missense_Mutation_p.D71H|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	74				D -> V (in Ref. 1; BAG61768). {ECO:0000305}.						endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AAGTTTGCATCGGGTTCAGTA	0.468													C|||	5	0.0013245	0.0023	0	3775	,	,		14416	0		0	False		,,,				2504	0.002				p.D75H													.	.			0			c.G223C												136	110	119					X																	55172645		2203	4300	6503	SO:0001583	missense	90736	exon3			TTGCATCGGGTTC	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.220G>C	X.37:g.55172645C>G	ENSP00000364101:p.Asp74His		36	0	0		33	0.12	4	NM_001166700	65	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	3.193	-0.165363	0.06461	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	1.59	-1.04	0.10068	.	0.505297	0.17523	U	0.171170	T	0.25044	0.0608	N	0.14661	0.345	0.09310	N	1	B;P;P	0.46859	0.002;0.774;0.885	B;P;B	0.46479	0.001;0.518;0.241	T	0.15065	-1.0450	10	0.56958	D	0.05	-1.547	4.2247	0.10575	0.0:0.4679:0.0:0.5321	.	75;74;75	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	H	74;75;75;71;73	ENSP00000364101:D74H;ENSP00000333394:D75H;ENSP00000397188:D75H;ENSP00000421161:D71H;ENSP00000423164:D73H	ENSP00000333394:D75H	D	-	1	0	FAM104B	55189370	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.019000	0.12546	-0.355000	0.08199	-0.556000	0.04195	GAT			0.468	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		G	55172645	C	G	55172645	3	3	59	1	0	0	0	0	1	0	0	0	5396	884	31	5	232	5	FAM104B	23	55172645	Missense_Mutation	SNP	C	TCGA-2G-AAKL-01A-11D-A42Y-10	15	55172645	100097915	74	4296			2	10		2	2	16	N	G_C	3.585585e-05
TAS1R3	83756	mdanderson.org	37	chr1	1269178	1269178	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggccagcccagccctgcCcgatgcctggcccagcagcc	5	4	11	21	1	0	0	0	0	0	0	0	1	0	0	8	2	6	1	8	2	0	0			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr1:1269178C>T	ENST00000339381.5	+	6	1925	c.1893C>T	c.(1891-1893)gcC>gcT	p.A631A		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	631					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)		ccagccctgcccgatgcctgg	0.692																																					p.A631A													.	.			0			c.C1893T												16	19	18					1																	1269178		2186	4285	6471	SO:0001819	synonymous_variant	83756	exon6			CCCTGCCCGATGC	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.1893C>T	1.37:g.1269178C>T			39	0	0		41	0.07	3	NM_152228	1	0	0	Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	CCDS30556.1																																																																																					0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008493.1				T	1269178	C	T	1269178	2	4	60	1	0	0	0	0	0	0	0	1	15587	610	22	3		3	TAS1R3	1	1269178	Silent	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10		1269178	247981443	1	4297											
PRDM16	63976	mdanderson.org	37	chr1	3329295	3329295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccccaggtgtgcccggCgcggatgccccagcagcccc	4	4	14	19	3	0	0	0	0	0	0	0	1	0	1	7	3	5	2	7	3	0	0			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr1:3329295C>T	ENST00000270722.5	+	9	2583	c.2534C>T	c.(2533-2535)gCg>gTg	p.A845V	PRDM16_ENST00000378398.3_Missense_Mutation_p.A846V|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.A845V|PRDM16_ENST00000442529.2_Missense_Mutation_p.A845V|PRDM16_ENST00000511072.1_Missense_Mutation_p.A846V|PRDM16_ENST00000514189.1_Missense_Mutation_p.A846V|PRDM16_ENST00000441472.2_Missense_Mutation_p.A845V			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	845	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				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)		GTGTGCCCGGCGCGGATGCCC	0.697			T	EVI1	"MDS, AML"																																p.A845V				Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	PRDM16,colon,carcinoma,0,1	PRDM16	0	1	0			c.C2534T												6	8	8					1																	3329295		1791	3893	5684	SO:0001583	missense	63976	exon9			GCCCGGCGCGGAT	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.2534C>T	1.37:g.3329295C>T	ENSP00000270722:p.Ala845Val		30	0	0		37	0.08	3	NM_022114	1	0	0	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	7.710	0.694951	0.15039	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05925	3.38;3.41;3.42;3.42;3.41;3.43;3.42;3.37;3.37	4.05	3.11	0.35812	.	0.132956	0.33127	U	0.005255	T	0.05318	0.0141	L	0.36672	1.1	0.09310	N	1	P;B;P;B	0.41710	0.76;0.108;0.71;0.065	B;B;B;B	0.35859	0.212;0.013;0.08;0.006	T	0.38457	-0.9660	10	0.38643	T	0.18	.	11.3409	0.49533	0.0:0.9093:0.0:0.0906	.	845;845;845;845	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	V	846;846;845;845;845;846;845;661;661;654	ENSP00000426975:A846V;ENSP00000367651:A846V;ENSP00000407968:A845V;ENSP00000405253:A845V;ENSP00000367643:A845V;ENSP00000421400:A846V;ENSP00000270722:A845V;ENSP00000422504:A661V;ENSP00000425796:A654V	ENSP00000270722:A845V	A	+	2	0	PRDM16	3319155	0.011000	0.17503	0.043000	0.18650	0.039000	0.13416	2.326000	0.43849	1.977000	0.57605	0.551000	0.68910	GCG			0.697	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000001382.3		NM_022114		T	3329295	C	T	3329295	3	4	60	1	0	0	0	0	1	0	0	0	12477	768	27	1	2568	1	PRDM16	1	3329295	Missense_Mutation	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10	2060117	3329295	245921326	2	4298											
TP73	7161	mdanderson.org	37	chr1	3649534	3649534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccatccccaaccgcggcgGcccaggcggcggccctgacg	6	2	13	20	6	0	1	0	1	0	0	1	1	1	1	6	5	1	0	6	5	1	0			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr1:3649534G>T	ENST00000378295.4	+	14	1957	c.1802G>T	c.(1801-1803)gGc>gTc	p.G601V	TP73_ENST00000354437.4_3'UTR|TP73_ENST00000604074.1_3'UTR|TP73_ENST00000603362.1_Missense_Mutation_p.G520V|TP73_ENST00000378288.4_Missense_Mutation_p.G552V|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000378290.4_Missense_Mutation_p.G530V|TP73_ENST00000604479.1_Missense_Mutation_p.G505V|TP73_ENST00000357733.3_Missense_Mutation_p.G520V|TP73_ENST00000346387.4_Missense_Mutation_p.G505V	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	601					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)		AACCGCGGCGGCCCAGGCGGC	0.697																																					p.G601V													.	.			0			c.G1802T												14	18	16					1																	3649534		2182	4276	6458	SO:0001583	missense	7161	exon14			GCGGCGGCCCAGG	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.1802G>T	1.37:g.3649534G>T	ENSP00000367545:p.Gly601Val		24	0	0		32	0.09	3	NM_005427	1	0	0	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562013	0.27915	.	.	ENSG00000078900	ENST00000378295;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378290	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	4.11	4.11	0.48088	.	0.302249	0.27686	N	0.018262	D	0.83440	0.5255	L	0.27053	0.805	0.43326	D	0.995354	P;P	0.51057	0.939;0.941	P;P	0.50378	0.639;0.536	D	0.84937	0.0863	10	0.87932	D	0	-35.9445	10.3089	0.43697	0.0:0.2207:0.7793:0.0	.	552;601	O15350-8;O15350	.;P73_HUMAN	V	601;520;505;552;530	ENSP00000367545:G601V;ENSP00000350366:G520V;ENSP00000340740:G505V;ENSP00000367537:G552V;ENSP00000367539:G530V	ENSP00000340740:G505V	G	+	2	0	TP73	3639394	1.000000	0.71417	0.059000	0.19551	0.164000	0.22412	2.899000	0.48679	1.829000	0.53265	0.313000	0.20887	GGC			0.697	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001468.4		NM_005427		T	3649534	G	T	3649534	3	4	60	1	0	0	0	0	1	0	0	0	16417	1203	42	2	1895	2	TP73	1	3649534	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	320239	3649534	245601087	3	4299											
NRBP1	29959	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr2	27664455	27664455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaatatccccgagttggCggctgagctggtgcagctgg	7	9	16	9	2	0	2	0	2	0	1	1	4	1	2	2	4	3	5	2	4	2	2	rs374507004		TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr2:27664455C>T	ENST00000233557.3	+	18	2301	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.A498V|KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.A490V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	490					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCCGAGTTGGCGGCTGAGCTG	0.577																																					p.A490V													.	.			0			c.C1469T							C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	145	138	141		1469	5.7	1	2		141	0,8600		0,0,4300	no	missense	NRBP1	NM_013392.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	490/536	27664455	1,13005	2203	4300	6503	SO:0001583	missense	29959	exon17			AGTTGGCGGCTGA	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1469C>T	2.37:g.27664455C>T	ENSP00000233557:p.Ala490Val		76	0	0		118	0.04	5	NM_013392	715	0	0	B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545866	0.65198	2.27E-4	0.0	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.23147	2.24;2.24;1.92	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	L	0.43598	1.365	0.80722	D	1	P;P;P	0.44776	0.843;0.596;0.461	B;B;B	0.34873	0.147;0.191;0.094	T	0.02196	-1.1197	10	0.41790	T	0.15	-12.1709	18.3703	0.90405	0.0:1.0:0.0:0.0	.	470;498;490	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	V	490;470;490;498	ENSP00000233557:A490V;ENSP00000369181:A490V;ENSP00000369192:A498V	ENSP00000233557:A490V	A	+	2	0	NRBP1	27517959	1.000000	0.71417	0.977000	0.42913	0.916000	0.54674	5.755000	0.68750	2.684000	0.91462	0.561000	0.74099	GCG			0.577	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215033.1		NM_013392		T	27664455	C	T	27664455	3	4	60	1	0	0	0	0	1	0	0	0	10659	768	27	1	1531	1	NRBP1	2	27664455	Missense_Mutation	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10		27664455	215534918	4	4300											
PRPF40A	151188	broad.mit.edu	37	chr2	153573929	153573929	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgggctcagactgctccGccggcggccactgccgctac	4	6	13	18	6	1	1	1	0	0	1	3	1	2	1	4	3	3	3	4	3	1	1	rs371312661		TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr2:153573929G>A	ENST00000326446.5	+	0	0				PRPF40A_ENST00000410080.1_Missense_Mutation_p.R9W|PRPF40A_ENST00000486100.1_5'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AGACTGCTCCGCCGGCGGCCA	0.657																																					p.R9W													.	PRPF40A	149		0			c.C25T												30	37	35					2																	153573929		1939	4145	6084	SO:0001631	upstream_gene_variant	55660	exon1			TGCTCCGCCGGCG	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901		2.37:g.153573929G>A	Exception_encountered		165	0	0		176	0.02	4	NM_017892	43	0	0	B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173072	0.78452	.	.	ENSG00000196504	ENST00000410080;ENST00000359961;ENST00000448428	T	0.35048	1.33	4.87	3.99	0.46301	.	.	.	.	.	T	0.22044	0.0531	N	0.22421	0.69	0.25072	N	0.990986	P	0.35242	0.492	B	0.26969	0.075	T	0.11518	-1.0584	9	0.62326	D	0.03	.	8.8148	0.34989	0.1006:0.0:0.8994:0.0	.	9	E9PFS0	.	W	9;9;15	ENSP00000386458:R9W	ENSP00000353046:R9W	R	-	1	2	PRPF40A	153282175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.295000	0.51794	1.273000	0.44346	0.655000	0.94253	CGG			0.657	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254852.3		NM_152522		A	153573929	G	A	153573929	1	1	60	0	1	0	0	0	0	0	0	0	12591	1086	38	1		1	PRPF40A	2	153573929	5'Flank	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	125909474	153573929	89625444	5	4301											
IFT122	55764	mdanderson.org	37	chr3	129239031	129239031	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttagatgttccattctGaggactatgagttgctggtg	7	15	11	8	0	1	3	0	2	1	1	3	4	3	4	2	2	1	3	2	2	2	5			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr3:129239031G>T	ENST00000348417.2	+	30	3726	c.3649G>T	c.(3649-3651)Gag>Tag	p.E1217*	IFT122_ENST00000431818.2_Nonsense_Mutation_p.E1067*|IFT122_ENST00000504021.1_Nonsense_Mutation_p.E1094*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.E1158*|IFT122_ENST00000296266.3_Nonsense_Mutation_p.E1268*|IFT122_ENST00000349441.2_Nonsense_Mutation_p.E1107*|IFT122_ENST00000507564.1_Nonsense_Mutation_p.E1210*|IFT122_ENST00000440957.2_Nonsense_Mutation_p.E1008*	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1217					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTTCCATTCTGAGGACTATGA	0.607																																					p.E1268X													.	.			0			c.G3802T												100	79	87					3																	129239031		2203	4300	6503	SO:0001587	stop_gained	55764	exon31			CATTCTGAGGACT	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3649G>T	3.37:g.129239031G>T	ENSP00000324005:p.Glu1217*		40	0	0		50	0.06	3	NM_052985	58	0	0	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Nonsense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	41	9.012694	0.99037	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.4995	20.1054	0.97890	0.0:0.0:1.0:0.0	.	.	.	.	X	1158;1268;1210;1067;1094;1107;1217;1059;1008	.	ENSP00000296266:E1268X	E	+	1	0	IFT122	130721721	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	9.609000	0.98334	2.757000	0.94681	0.655000	0.94253	GAG			0.607	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000355852.1		NM_018262		T	129239031	G	T	129239031	4	4	60	1	0	0	0	0	0	1	0	0	7570	1291	45	3	3927	3	IFT122	3	129239031	Nonsense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10		129239031	68783399	6	4302											
PRDM8	56978	mdanderson.org	37	chr4	81123665	81123665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaggaggatctggtgtGcacaccgcagcagtaccgag	10	6	13	12	2	1	0	0	0	1	0	2	3	2	2	3	3	3	4	3	3	2	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr4:81123665G>T	ENST00000504452.1	+	8	1888	c.1049G>T	c.(1048-1050)tGc>tTc	p.C350F	PRDM8_ENST00000415738.2_Missense_Mutation_p.C350F|PRDM8_ENST00000339711.4_Missense_Mutation_p.C350F			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	350	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GATCTGGTGTGCACACCGCAG	0.731																																					p.C350F													.	.			0			c.G1049T												3	4	4					4																	81123665		1424	3273	4697	SO:0001583	missense	56978	exon4			TGGTGTGCACACC	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.1049G>T	4.37:g.81123665G>T	ENSP00000423985:p.Cys350Phe		27	0	0		19	0.11	2	NM_001099403	1	0	0	A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661011	0.29515	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.68624	-0.34;0.22;-0.34;-0.34	4.18	4.18	0.49190	.	0.303053	0.30879	N	0.008692	T	0.65770	0.2723	L	0.27053	0.805	0.33739	D	0.619233	D	0.56521	0.976	P	0.53809	0.735	T	0.76822	-0.2817	10	0.56958	D	0.05	.	16.2871	0.82727	0.0:0.0:1.0:0.0	.	350	Q9NQV8	PRDM8_HUMAN	F	350	ENSP00000423985:C350F;ENSP00000425149:C350F;ENSP00000339764:C350F;ENSP00000406998:C350F	ENSP00000339764:C350F	C	+	2	0	PRDM8	81342689	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	2.726000	0.47302	2.149000	0.67028	0.491000	0.48974	TGC			0.731	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362793.1				T	81123665	G	T	81123665	3	4	60	1	0	0	0	0	1	0	0	0	12482	1319	46	2	1059	2	PRDM8	4	81123665	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10		81123665	110030611	7	4303											
DSPP	1834	bcgsc.ca	37	chr4	88537036	88537036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagcagtgacagcagtgaCagcagcgacagcagtgatag	14	5	14	8	1	0	3	0	3	0	0	0	5	0	3	0	0	5	4	0	0	2	2	rs111205183		TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr4:88537036C>T	ENST00000282478.7	+	4	3255	c.3222C>T	c.(3220-3222)gaC>gaT	p.D1074D	DSPP_ENST00000399271.1_Silent_p.D1074D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1074	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgacagcagcgaca	0.537																																					p.D1074D													DSPP,NS,carcinoma,0,1	DSPP	174	1	0			c.C3222T												57	64	62					4																	88537036		1567	2840	4407	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3222C>T	4.37:g.88537036C>T			117	0.0085470085	1		72	0.17	12	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		T	88537036	C	T	88537036	2	4	60	1	0	0	0	0	0	0	0	1	4787	477	17	3		3	DSPP	4	88537036	Silent	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10	7413371	88537036	102617240	8	4304											
MYO10	4651	mdanderson.org	37	chr5	16673975	16673975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtatttttccatctcgCttcctggaaactgttcccgt	6	15	8	12	3	1	0	0	0	1	0	5	2	4	1	3	1	2	3	3	1	2	5	rs25901	byFrequency	TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr5:16673975C>T	ENST00000513610.1	-	36	5442	c.4988G>A	c.(4987-4989)aGc>aAc	p.S1663N	MYO10_ENST00000505695.1_Missense_Mutation_p.S1002N|MYO10_ENST00000274203.9_Missense_Mutation_p.S1020N|MYO10_ENST00000427430.2_Missense_Mutation_p.S1020N|MYO10_ENST00000515803.1_Missense_Mutation_p.S1002N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1663	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.		S -> T (in dbSNP:rs25901). {ECO:0000269|PubMed:10984435, ECO:0000269|PubMed:11278607, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9872452}.		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						TTCCATCTCGCTTCCTGGAAA	0.468																																					p.S1663N													.	.			0			c.G4988A												91	92	92					5																	16673975		1877	4123	6000	SO:0001583	missense	4651	exon36			ATCTCGCTTCCTG	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.4988G>A	5.37:g.16673975C>T	ENSP00000421280:p.Ser1663Asn		92	0	0		64	0.03	2	NM_012334	65	0	0	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	g	36	5.781783	0.96929	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95	5.41	5.41	0.78517	MyTH4 domain (3);	.	.	.	.	D	0.92642	0.7662	M	0.68952	2.095	0.43480	P	0.0042959999999999665	P;B;B	0.37781	0.608;0.324;0.269	B;B;B	0.42882	0.401;0.129;0.16	D	0.93044	0.6460	8	0.66056	D	0.02	.	16.4107	0.83712	0.0:0.1316:0.8684:0.0	.	542;1303;1663	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	N	1663;1002;1020;1002;1020	ENSP00000421280:S1663N;ENSP00000425051:S1002N;ENSP00000274203:S1020N;ENSP00000421170:S1002N;ENSP00000391106:S1020N	ENSP00000274203:S1020N	S	-	2	0	MYO10	16726975	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.033000	0.88852	1.291000	0.44653	-0.242000	0.12053	AGC			0.468	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366167.1		NM_012334		T	16673975	C	T	16673975	3	4	60	1	0	0	0	0	1	0	0	0	10078	797	28	2	1212	2	MYO10	5	16673975	Missense_Mutation	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10		16673975	164241285	9	4305											
APBB3	10307	broad.mit.edu	37	chr5	139938282	139938282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctttgagcagggggAggggcaggggacctcctggg	5	6	18	12	0	0	1	0	1	0	0	2	3	2	3	5	7	1	2	5	7	0	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr5:139938282A>G	ENST00000357560.4	-	13	1792	c.1349T>C	c.(1348-1350)cTc>cCc	p.L450P	APBB3_ENST00000354402.5_Missense_Mutation_p.L457P|APBB3_ENST00000508496.2_Missense_Mutation_p.L227P|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000412920.3_Missense_Mutation_p.L448P|APBB3_ENST00000356738.2_Missense_Mutation_p.L455P|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000358580.5_3'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	450						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGGGGGAGGGGCAGGGG	0.667																																					p.L457P													.	APBB3	34		0			c.T1370C												32	39	36					5																	139938282		2202	4293	6495	SO:0001583	missense	10307	exon12			AGGGGGAGGGGCA	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1349T>C	5.37:g.139938282A>G	ENSP00000350171:p.Leu450Pro		304	0.0065789474	2		286	0.02	5	NM_006051	11	0	0	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	A	8.048	0.765288	0.15914	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.46451	1.87;1.87;1.87;0.87;1.87	4.76	1.07	0.20283	.	0.634983	0.13994	N	0.348616	T	0.17662	0.0424	N	0.08118	0	0.51233	D	0.999918	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.09729	-1.0661	9	.	.	.	0.0113	4.2081	0.10498	0.6125:0.1906:0.1969:0.0	.	448;455	O95704-2;O95704-3	.;.	P	455;457;450;227;448	ENSP00000349177:L455P;ENSP00000346378:L457P;ENSP00000350171:L450P;ENSP00000444013:L227P;ENSP00000402591:L448P	.	L	-	2	0	APBB3	139918466	0.959000	0.32827	0.075000	0.20258	0.973000	0.67179	1.354000	0.34056	-0.046000	0.13446	0.374000	0.22700	CTC			0.667	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251677.2		NM_006051		G	139938282	A	G	139938282	3	3	60	1	0	0	0	0	1	0	0	0	762	304	11	4	115	4	APBB3	5	139938282	Missense_Mutation	SNP	A	TCGA-2G-AAKM-01A-11D-A42Y-10	123264307	139938282	40976978	10	4306											
EXOC2	55770	mdanderson.org	37	chr6	598057	598057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgtaaagttgatggtGtctcaagcaatttatccaga	12	13	10	6	0	2	2	2	1	1	1	4	2	3	2	1	2	1	3	1	2	5	4			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr6:598057G>T	ENST00000230449.4	-	10	1172	c.1037C>A	c.(1036-1038)aCa>aAa	p.T346K	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	346					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AGTTGATGGTGTCTCAAGCAA	0.308																																					p.T346K													.	.			0			c.C1037A												131	132	132					6																	598057		2202	4298	6500	SO:0001583	missense	55770	exon10			GATGGTGTCTCAA	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.1037C>A	6.37:g.598057G>T	ENSP00000230449:p.Thr346Lys		95	0	0		85	0.05	4	NM_018303	22	0	0	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915906	0.73098	.	.	ENSG00000112685	ENST00000230449	T	0.42900	0.96	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	L	0.60455	1.87	0.80722	D	1	P	0.38335	0.627	B	0.35114	0.196	T	0.06770	-1.0808	10	0.11794	T	0.64	-0.3549	14.6294	0.68645	0.0695:0.0:0.9305:0.0	.	346	Q96KP1	EXOC2_HUMAN	K	346	ENSP00000230449:T346K	ENSP00000230449:T346K	T	-	2	0	EXOC2	543057	1.000000	0.71417	0.973000	0.42090	0.853000	0.48598	9.101000	0.94219	1.412000	0.46977	-0.142000	0.14014	ACA			0.308	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039627.1		NM_018303		T	598057	G	T	598057	3	4	60	1	0	0	0	0	1	0	0	0	5309	1377	48	3	1813	3	EXOC2	6	598057	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10		598057	170517010	11	4307											
ZNF322A	79692	broad.mit.edu	37	chr6	26637624	26637624	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagggctaagctcaagaccTttttcactcacattacagac	12	10	8	11	0	3	2	3	0	0	2	3	3	3	3	1	2	2	2	1	2	3	4			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr6:26637624T>C	ENST00000415922.2	-	4	1803	c.1158A>G	c.(1156-1158)aaA>aaG	p.K386K	ZNF322_ENST00000461899.1_5'Flank|ZNF322_ENST00000471278.1_Silent_p.K386K|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	386					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)										GCTCAAGACCTTTTTCACTCA	0.413																																					p.K386K													.	.			0			c.A1158G												175	133	147					6																	26637624		2201	4298	6499	SO:0001819	synonymous_variant	79692	exon5			AAGACCTTTTTCA	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.1158A>G	6.37:g.26637624T>C			762	0	0		680	0.01	7	NM_001242797	13	0	0	A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Silent	SNP	ENST00000415922.2	37	CCDS4617.1																																																																																					0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040126.2		NM_024639		C	26637624	T	C	26637624	2	2	60	1	0	0	0	0	0	0	0	1	17864	1606	56	4		4	ZNF322A	6	26637624	Silent	SNP	T	TCGA-2G-AAKM-01A-11D-A42Y-10	26039567	26637624	144477443	12	4308											
CUTA	51596	broad.mit.edu	37	chr6	33384432	33384432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaacagggctcatcatgGcaggactgtgatagagtcag	12	7	14	8	0	3	2	3	1	0	1	3	4	3	4	0	4	1	2	0	4	2	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr6:33384432G>T	ENST00000488034.1	-	6	656	c.535C>A	c.(535-537)Cca>Aca	p.P179T	CUTA_ENST00000488478.1_3'UTR|CUTA_ENST00000374500.5_Missense_Mutation_p.P198T|CUTA_ENST00000494751.1_Nonsense_Mutation_p.C126*|CUTA_ENST00000374496.3_Missense_Mutation_p.P156T|CUTA_ENST00000607266.1_Missense_Mutation_p.P156T|CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000440279.3_Missense_Mutation_p.P156T	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	179					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						GCTCATCATGGCAGGACTGTG	0.537																																					p.P198T													.	CUTA	5		0			c.C592A												93	83	86					6																	33384432		2203	4300	6503	SO:0001583	missense	51596	exon6			ATCATGGCAGGAC	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 82", "acetylcholinesterase-associated protein"	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.535C>A	6.37:g.33384432G>T	ENSP00000417544:p.Pro179Thr		247	0	0		206	0.02	4	NM_001014433	218	0	0	A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Nonsense_Mutation	SNP	ENST00000488034.1	37	CCDS34433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.076301|4.076301	0.76415|0.76415	.|.	.|.	ENSG00000112514|ENSG00000112514	ENST00000494751|ENST00000374500;ENST00000440279;ENST00000488034;ENST00000374496	.|.	.|.	.|.	4.98|4.98	4.09|4.09	0.47781|0.47781	.|.	.|0.161610	.|0.29822	.|N	.|0.011109	.|T	.|0.19765	.|0.0475	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|P;B	.|0.41131	.|0.739;0.18	.|P;B	.|0.45232	.|0.474;0.07	.|T	.|0.03863	.|-1.0997	.|9	.|0.87932	.|D	.|0	.|.	9.3953|9.3953	0.38399|0.38399	0.0988:0.0:0.9012:0.0|0.0988:0.0:0.9012:0.0	.|.	.|198;179	.|O60888-2;O60888	.|.;CUTA_HUMAN	X|T	126|198;156;179;156	.|.	.|ENSP00000363620:P156T	C|P	-|-	3|1	2|0	CUTA|CUTA	33492410|33492410	0.351000|0.351000	0.24887|0.24887	0.237000|0.237000	0.24090|0.24090	0.234000|0.234000	0.25298|0.25298	2.842000|2.842000	0.48230|0.48230	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	TGC|CCA			0.537	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000076541.3		NM_015921		T	33384432	G	T	33384432	3	4	60	1	0	0	0	0	1	0	0	0	4064	1203	42	2	8	2	CUTA	6	33384432	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	6746808	33384432	137730635	13	4309											
GJA1	2697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	121768358	121768358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcccaaactgatggtgtcaAtgtggacatgcacttgaagc	11	10	11	9	0	1	2	1	2	0	0	1	3	1	3	1	2	4	1	1	2	3	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr6:121768358A>G	ENST00000282561.3	+	2	522	c.365A>G	c.(364-366)aAt>aGt	p.N122S		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	122					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GATGGTGTCAATGTGGACATG	0.448																																					p.N122S													.	.			0			c.A365G												125	116	119					6																	121768358		2203	4300	6503	SO:0001583	missense	2697	exon2			GTGTCAATGTGGA	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.365A>G	6.37:g.121768358A>G	ENSP00000282561:p.Asn122Ser		131	0	0		168	0.24	40	NM_000165	218	0.22	49	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	A	1.685	-0.505626	0.04261	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.97016	-4.21	5.23	5.23	0.72850	.	0.698454	0.14238	N	0.332275	D	0.85013	0.5600	N	0.11064	0.09	0.52099	D	0.999947	B	0.09022	0.002	B	0.06405	0.002	T	0.78229	-0.2285	10	0.11794	T	0.64	.	15.1283	0.72500	1.0:0.0:0.0:0.0	.	122	P17302	CXA1_HUMAN	S	106;122	ENSP00000282561:N122S	ENSP00000282561:N122S	N	+	2	0	GJA1	121810057	1.000000	0.71417	0.076000	0.20297	0.018000	0.09664	9.287000	0.95975	1.993000	0.58246	0.377000	0.23210	AAT			0.448	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042023.1		NM_000165		G	121768358	A	G	121768358	3	3	60	1	0	0	0	0	1	0	0	0	6414	101	4	4	367	4	GJA1	6	121768358	Missense_Mutation	SNP	A	TCGA-2G-AAKM-01A-11D-A42Y-10	88383926	121768358	49346709	14	4310											
MTHFD1L	25902	broad.mit.edu	37	chr6	151413631	151413631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgccaggactgcccacccGgccctgcttttatgacatag	8	9	9	15	1	0	1	0	1	0	0	0	2	0	2	4	2	3	1	4	2	2	3			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr6:151413631G>T	ENST00000367321.3	+	27	3150	c.2876G>T	c.(2875-2877)cGg>cTg	p.R959L	RP1-292B18.4_ENST00000415477.1_RNA	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	959	Formyltetrahydrofolate synthetase.				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)		CTGCCCACCCGGCCCTGCTTT	0.488																																					p.R960L													.	MTHFD1L	75		0			c.G2879T												92	88	90					6																	151413631		2203	4300	6503	SO:0001583	missense	25902	exon27			CCACCCGGCCCTG	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.2876G>T	6.37:g.151413631G>T	ENSP00000356290:p.Arg959Leu		101	0	0		117	0.03	4	NM_001242767	106	0	0	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943936	0.92593	.	.	ENSG00000120254	ENST00000367321	T	0.22945	1.93	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.91612	3.225	0.80722	D	1	D;D;P	0.60160	0.987;0.972;0.922	P;D;P	0.68765	0.781;0.96;0.655	T	0.63642	-0.6591	10	0.62326	D	0.03	.	18.4037	0.90526	0.0:0.0:1.0:0.0	.	960;714;959	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	L	959	ENSP00000356290:R959L	ENSP00000356290:R959L	R	+	2	0	MTHFD1L	151455324	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	8.060000	0.89464	2.652000	0.90054	0.655000	0.94253	CGG			0.488	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042699.1		NM_015440		T	151413631	G	T	151413631	3	4	60	1	0	0	0	0	1	0	0	0	9944	1116	39	1	2982	1	MTHFD1L	6	151413631	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	29645273	151413631	19701436	15	4311											
BUD31	8896	hgsc.bcm.edu;broad.mit.edu	37	chr7	99015089	99015089	+	Frame_Shift_Del	DEL	C	C	-																															attaaagaaggctatgcagaCaaaaacctgattgcaaaatg																										TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr7:99015089delC	ENST00000403633.2	+	5	784	c.255delC	c.(253-255)gacfs	p.D85fs	PTCD1_ENST00000292478.4_3'UTR|BUD31_ENST00000222969.5_Frame_Shift_Del_p.D85fs|BUD31_ENST00000431419.1_Frame_Shift_Del_p.D56fs|BUD31_ENST00000456893.1_Frame_Shift_Del_p.D44fs			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	85					regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCTATGCAGACAAAAACCTGA	0.443																																					p.D85fs													.	BUD31	12		0			c.254delA												74	72	73					7																	99015089		2203	4300	6503	SO:0001589	frameshift_variant	8896	exon5			TGCAGACAAAAAC	BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"G10 maternal transcript homolog (Xenopus laevis)", "functional spliceosome-associated protein 17"	603477	"BUD31 homolog (yeast)"			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.255delC	7.37:g.99015089delC	ENSP00000386023:p.Asp85fs		53	0	0		119	0.12	14	NM_003910	359	0	0	A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Frame_Shift_Del	DEL	ENST00000403633.2	37	CCDS5663.1																																																																																					0.443	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336275.1		NM_003910		-	99015089	C	-	99015089	7	5	60	1	0	1	0	1	0	0	0	0	1576	477	17	0	265	0	BUD31	7	99015089	Frame_Shift_Del	DEL	C	TCGA-2G-AAKM-01A-11D-A42Y-10		99015089	60123574	16	4312											
SYCE1	93426	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr10	135369120	135369120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgccgcttctgctgctGttgttggcacttctgctgca	2	15	10	14	1	3	0	0	0	3	0	3	0	3	0	2	1	5	8	2	1	0	4			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr10:135369120G>T	ENST00000343131.5	-	11	915	c.811C>A	c.(811-813)Cag>Aag	p.Q271K	SYCE1_ENST00000432597.2_Missense_Mutation_p.Q235K|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.Q235K	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	271	Gln-rich.				synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ttctgctgctgttgttggcac	0.612																																					p.Q271K													.	SYCE1	81		0			c.C811A												30	25	26					10																	135369120		2202	4300	6502	SO:0001583	missense	93426	exon11			GCTGCTGTTGTTG	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.811C>A	10.37:g.135369120G>T	ENSP00000341282:p.Gln271Lys		30	0	0		45	0.09	4	NM_001143763	3	0	0	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	G	4.389	0.071883	0.08436	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.29655	1.56;3.11;3.11;3.11	4.31	1.44	0.22558	.	0.173458	0.27906	N	0.017378	T	0.15262	0.0368	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.15719	0.004;0.004;0.014	B;B;B	0.19391	0.011;0.011;0.025	T	0.20874	-1.0262	10	0.62326	D	0.03	0.5081	8.8604	0.35253	0.275:0.0:0.725:0.0	.	143;271;235	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	K	271;235;235;271	ENSP00000303978:Q271K;ENSP00000411779:Q235K;ENSP00000357503:Q235K;ENSP00000341282:Q271K	ENSP00000303978:Q271K	Q	-	1	0	SYCE1	135219110	0.984000	0.35163	0.973000	0.42090	0.012000	0.07955	0.755000	0.26405	0.082000	0.17018	-1.134000	0.01955	CAG			0.612	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_201564		T	135369120	G	T	135369120	3	4	60	1	0	0	0	0	1	0	0	0	15451	1386	48	3	299	3	SYCE1	10	135369120	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10		135369120	165627	17	4313											
OR51A4	401666	ucsc.edu	37	chr11	4967831	4967831	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcttgcaatatctcaagTttcttaaagtgaaagggaag	13	15	8	5	0	3	1	1	1	3	0	4	2	3	2	0	1	1	2	0	1	7	6	rs2595987	byFrequency	TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr11:4967831T>C	ENST00000380373.2	-	1	525	c.500A>G	c.(499-501)aAc>aGc	p.N167S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	167						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(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCTCAAGTTTCTTAAAGT	0.408													.|||	429	0.0856629	0.0681	0.0634	5008	,	,		26152	0.0506		0.1262	False		,,,				2504	0.1196				p.N167S													.	OR51A4	73		0			c.A500G												219	204	209					11																	4967831		2179	4244	6423	SO:0001583	missense	401666	exon1			CTCAAGTTTCTTA	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.500A>G	11.37:g.4967831T>C	ENSP00000369731:p.Asn167Ser		293	0.1365187713	40		85	0.38	32	NM_001005329	0		0		Missense_Mutation	SNP	ENST00000380373.2	37	CCDS31367.1	215	0.09844322344322344	29	0.05894308943089431	41	0.1132596685082873	31	0.05419580419580419	114	0.1503957783641161	C	9.279	1.047619	0.19827	.	.	ENSG00000205497	ENST00000380373	T	0.72505	-0.66	3.44	-2.14	0.07123	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.01705	-0.755	0.80722	P	0.0	B	0.02656	0.0	B	0.09377	0.004	T	0.03193	-1.1062	8	0.59425	D	0.04	.	3.0937	0.06302	0.3227:0.2548:0.0:0.4225	rs2595987;rs2898970	167	Q8NGJ6	O51A4_HUMAN	S	167	ENSP00000369731:N167S	ENSP00000369731:N167S	N	-	2	0	OR51A4	4924407	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-0.702000	0.05069	-0.651000	0.05415	-0.348000	0.07805	AAC			0.408	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142821.1		NM_001005329		C	4967831	T	C	4967831	3	2	60	1	0	0	0	0	1	0	0	0	11104	1725	60	4	443	4	OR51A4	11	4967831	Missense_Mutation	SNP	T	TCGA-2G-AAKM-01A-11D-A42Y-10		4967831	130038685	18	4314											
GTF2H1	2965	mdanderson.org	37	chr11	18387386	18387386	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacaacaagctccacacatgGcagtcacggcgtctgatgaa	13	7	9	12	2	2	2	1	2	1	0	3	2	3	2	1	2	3	2	1	2	4	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr11:18387386G>A	ENST00000265963.4	+	15	1777	c.1617G>A	c.(1615-1617)tgG>tgA	p.W539*	GTF2H1_ENST00000526630.2_Nonsense_Mutation_p.W129*|GTF2H1_ENST00000530496.2_Nonsense_Mutation_p.W227*|GTF2H1_ENST00000534641.1_Nonsense_Mutation_p.W423*|GTF2H1_ENST00000453096.2_Nonsense_Mutation_p.W539*	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	539					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|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)|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)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TCCACACATGGCAGTCACGGC	0.478								Nucleotide excision repair (NER)																													p.W539X													.	.			0			c.G1617A												154	132	140					11																	18387386		2199	4293	6492	SO:0001587	stop_gained	2965	exon16			CACATGGCAGTCA		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1617G>A	11.37:g.18387386G>A	ENSP00000265963:p.Trp539*		51	0	0		50	0.06	3	NM_001142307	75	0	0	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Nonsense_Mutation	SNP	ENST00000265963.4	37	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	38	6.909768	0.97928	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496;ENST00000526630	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.1585	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	539;423;539;227;129	.	ENSP00000265963:W539X	W	+	3	0	GTF2H1	18343962	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.760000	0.91671	2.824000	0.97209	0.655000	0.94253	TGG			0.478	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395627.2		NM_005316		A	18387386	G	A	18387386	4	1	60	1	0	0	0	0	0	1	0	0	6875	1212	42	2	1671	2	GTF2H1	11	18387386	Nonsense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	13419555	18387386	116619130	19	4315											
MYBPC3	4607	mdanderson.org	37	chr11	47355259	47355259	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcacctcctcgcctgccagGggctgcccctctttggtcca	3	10	9	19	1	2	0	1	0	1	0	5	0	4	0	7	3	2	1	7	3	0	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr11:47355259G>T	ENST00000545968.1	-	29	3093	c.3039C>A	c.(3037-3039)ccC>ccA	p.P1013P	MYBPC3_ENST00000256993.4_Silent_p.P1012P|MYBPC3_ENST00000399249.2_Silent_p.P1013P	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1013	Ig-like C2-type 6.				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)		CGCCTGCCAGGGGCTGCCCCT	0.652																																					p.P1013P													.	.			0			c.C3039A												43	51	48					11																	47355259		2114	4221	6335	SO:0001819	synonymous_variant	4607	exon28			TGCCAGGGGCTGC	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.3039C>A	11.37:g.47355259G>T			46	0	0		23	0.13	3	NM_000256	1	0	0	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	CCDS53621.1																																																																																					0.652	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000392271.3				T	47355259	G	T	47355259	2	4	60	1	0	0	0	0	0	0	0	1	10029	1219	43	3		3	MYBPC3	11	47355259	Silent	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	28967873	47355259	87651257	20	4316											
TCIRG1	10312	mdanderson.org	37	chr11	67817527	67817527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggatgatgaagaggaGgccgaggtgggtgcagtgcc	8	6	20	7	1	0	3	0	2	0	1	0	6	0	5	3	6	2	1	3	6	1	0			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr11:67817527G>T	ENST00000265686.3	+	17	2220	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	RP11-802E16.3_ENST00000529934.1_RNA|TCIRG1_ENST00000532635.1_Missense_Mutation_p.E488D|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	704					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ATGAAGAGGAGGCCGAGGTGG	0.662																																					p.E704D													.	.			0			c.G2112T												43	45	44					11																	67817527		2199	4294	6493	SO:0001583	missense	10312	exon17			AGAGGAGGCCGAG	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2112G>T	11.37:g.67817527G>T	ENSP00000265686:p.Glu704Asp		36	0	0		49	0.06	3	NM_006019	87	0	0	O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	6.909	0.537395	0.13188	.	.	ENSG00000110719	ENST00000265686;ENST00000532635;ENST00000546315;ENST00000530063	D;D;D	0.86694	-2.16;-2.16;-2.16	3.89	-5.55	0.02536	.	1.839880	0.03384	N	0.200801	T	0.73931	0.3650	L	0.28458	0.855	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.57797	-0.7749	10	0.20046	T	0.44	-4.2738	0.1038	0.00050	0.2937:0.2522:0.1904:0.2637	.	704	Q13488	VPP3_HUMAN	D	704;488;62;5	ENSP00000265686:E704D;ENSP00000434407:E488D;ENSP00000432957:E5D	ENSP00000265686:E704D	E	+	3	2	TCIRG1	67574103	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.358000	0.07641	-1.027000	0.03325	0.462000	0.41574	GAG			0.662	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394305.1		NM_006019		T	67817527	G	T	67817527	3	4	60	1	0	0	0	0	1	0	0	0	15726	991	35	3	2174	3	TCIRG1	11	67817527	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	20462268	67817527	67188989	21	4317											
SPCS2	9789	broad.mit.edu	37	chr11	74680617	74680617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttatttgaacctattttGtgatgatggggattctgacc	9	17	9	6	0	1	4	0	4	1	0	1	5	1	5	2	2	1	0	2	2	3	7			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr11:74680617G>T	ENST00000263672.6	+	4	406	c.367G>T	c.(367-369)Gtg>Ttg	p.V123L	SPCS2_ENST00000530257.1_Intron|SPCS2_ENST00000526361.1_Intron|SPCS2_ENST00000528265.1_Intron|RNU6-216P_ENST00000363282.1_RNA	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			breast(1)	1						AACCTATTTTGTGATGATGGG	0.353																																					p.V123L													.	SPCS2	17		0			c.G367T												103	87	92					11																	74680617		1835	4081	5916	SO:0001583	missense	9789	exon4			TATTTTGTGATGA	D14658	CCDS44681.1	11q13.4	2008-02-05			ENSG00000118363	ENSG00000118363			28962	protein-coding gene	gene with protein product						7788527	Standard	NM_014752		Approved	KIAA0102	uc001ovu.2	Q15005	OTTHUMG00000165517	ENST00000263672.6:c.367G>T	11.37:g.74680617G>T	ENSP00000263672:p.Val123Leu		129	0	0		86	0.03	3	NM_014752	18	0	0	Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9	Missense_Mutation	SNP	ENST00000263672.6	37	CCDS44681.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160011	0.38119	.	.	ENSG00000118363	ENST00000263672;ENST00000532972;ENST00000526883	.	.	.	5.33	4.4	0.53042	.	0.695522	0.13540	N	0.380317	T	0.28632	0.0709	N	0.05383	-0.06	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.14420	-1.0473	9	0.15952	T	0.53	-6.0E-4	8.1355	0.31052	0.0886:0.163:0.7485:0.0	.	123	Q15005	SPCS2_HUMAN	L	123;154;127	.	ENSP00000263672:V123L	V	+	1	0	SPCS2	74358265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.234000	0.58658	2.649000	0.89929	0.650000	0.86243	GTG			0.353	SPCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384587.1		NM_014752		T	74680617	G	T	74680617	3	4	60	1	0	0	0	0	1	0	0	0	15047	1377	48	3	381	3	SPCS2	11	74680617	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	6863090	74680617	60325899	22	4318											
NCAM1	4684	mdanderson.org	37	chr11	113133588	113133588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccttgggaggcaattctGcatcctacacctttgtctca	9	12	7	13	0	2	0	1	0	2	0	4	1	3	1	3	2	3	2	3	2	3	4			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr11:113133588G>A	ENST00000533760.1	+	17	2367	c.1768G>A	c.(1768-1770)Gca>Aca	p.A590T	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGCAATTCTGCATCCTACAC	0.433																																					p.A743T													.	.			0			c.G2227A												159	154	156					11																	113133588		1930	4126	6056	SO:0001583	missense	4684	exon20			AATTCTGCATCCT		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1768G>A	11.37:g.113133588G>A	ENSP00000473281:p.Ala590Thr		124	0	0		111	0.05	5	NM_001076682	0		0	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37																																																																																						0.433	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000394068.2		NM_000615		A	113133588	G	A	113133588	3	1	60	1	0	0	0	0	1	0	0	0	10219	1319	46	2	2336	2	NCAM1	11	113133588	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	38452971	113133588	21872928	23	4319											
INTS6	26512	mdanderson.org	37	chr13	51961633	51961633	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgagtttgtgacagctatgCcaaggctgagatccaaaagg	13	9	12	7	0	0	3	0	3	0	1	1	4	1	3	2	2	2	3	2	2	4	2			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr13:51961633C>T	ENST00000311234.4	-	7	1255	c.783G>A	c.(781-783)tgG>tgA	p.W261*	INTS6_ENST00000463928.1_Nonsense_Mutation_p.W261*|INTS6_ENST00000490542.1_5'Flank|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Nonsense_Mutation_p.W248*|INTS6_ENST00000497989.1_Nonsense_Mutation_p.W83*	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	261					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GACAGCTATGCCAAGGCTGAG	0.403																																					p.W261X													.	.			0			c.G783A												75	69	71					13																	51961633		2203	4300	6503	SO:0001587	stop_gained	26512	exon7			GCTATGCCAAGGC	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.783G>A	13.37:g.51961633C>T	ENSP00000310260:p.Trp261*		56	0	0		49	0.06	3	NM_012141	5	0	0	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Nonsense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	39	7.633482	0.98403	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-4.7342	17.2129	0.86935	0.0:1.0:0.0:0.0	.	.	.	.	X	261;248;83	.	ENSP00000310260:W261X	W	-	3	0	INTS6	50859634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.772000	0.85439	2.356000	0.79943	0.561000	0.74099	TGG			0.403	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045023.1		NM_012141		T	51961633	C	T	51961633	4	4	60	1	0	0	0	0	0	1	0	0	7797	740	26	2	1928	2	INTS6	13	51961633	Nonsense_Mutation	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10		51961633	63208245	24	4320											
CUL4A	8451	mdanderson.org	37	chr13	113864355	113864355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgaggcggtgcgggccGtgcagagcagcacctccatc	7	5	15	14	4	0	1	0	0	0	1	2	2	1	1	3	3	5	4	3	3	0	0			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr13:113864355G>T	ENST00000375440.4	+	2	301	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	PCID2_ENST00000375479.2_5'Flank|PCID2_ENST00000375457.2_5'Flank|CUL4A_ENST00000451881.1_5'UTR|CUL4A_ENST00000463426.1_3'UTR|PCID2_ENST00000337344.4_5'Flank|PCID2_ENST00000246505.5_5'Flank|PCID2_ENST00000375477.1_5'Flank|PCID2_ENST00000375459.1_5'Flank|CUL4A_ENST00000375441.3_5'UTR|CUL4A_ENST00000326335.4_5'UTR	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	73					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GGTGCGGGCCGTGCAGAGCAG	0.711																																					p.V73L													.	.			0			c.G217T												7	9	9					13																	113864355		1902	4006	5908	SO:0001583	missense	8451	exon2			CGGGCCGTGCAGA	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.217G>T	13.37:g.113864355G>T	ENSP00000364589:p.Val73Leu		56	0	0		38	0.08	3	NM_001008895	56	0	0	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458994	0.43634	.	.	ENSG00000139842	ENST00000375440	T	0.77877	-1.13	5.31	4.15	0.48705	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.056591	0.64402	D	0.000003	T	0.71005	0.3289	L	0.49513	1.565	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.67377	-0.5686	10	0.87932	D	0	-16.2213	9.4635	0.38798	0.9138:0.0:0.0862:0.0	.	73	Q13619	CUL4A_HUMAN	L	73	ENSP00000364589:V73L	ENSP00000364589:V73L	V	+	1	0	CUL4A	112912356	1.000000	0.71417	0.664000	0.29753	0.000000	0.00434	5.503000	0.66962	0.882000	0.36016	-0.389000	0.06534	GTG			0.711	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045888.3		NM_003589		T	113864355	G	T	113864355	3	4	60	1	0	0	0	0	1	0	0	0	4059	1145	40	1	223	1	CUL4A	13	113864355	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	61902722	113864355	1305523	25	4321											
ANG	283	broad.mit.edu	37	chr14	21162161	21162161	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagtcaattttccgtcgTccgtaaccagcgggcccctg	7	10	10	14	4	2	0	2	0	0	0	5	1	4	0	5	1	2	1	5	1	2	3			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr14:21162161T>G	ENST00000336811.6	+	2	1038	c.438T>G	c.(436-438)cgT>cgG	p.R146R	RNASE4_ENST00000304704.4_Intron|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000397990.4_Silent_p.R146R|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555597.1_Intron|AL163636.6_ENST00000553909.1_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	146					actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TTTTCCGTCGTCCGTAACCAG	0.552																																					p.R146R													.	ANG	8		0			c.T438G												88	85	86					14																	21162161		2203	4300	6503	SO:0001819	synonymous_variant	283	exon2			CCGTCGTCCGTAA		CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"Ribonucleases, RNase A"	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.438T>G	14.37:g.21162161T>G			187	0	0		175	0.02	4	NM_001097577	14	0	0	Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Silent	SNP	ENST00000336811.6	37	CCDS9554.1																																																																																					0.552	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000073731.3		NM_001097577		G	21162161	T	G	21162161	2	3	60	1	0	0	0	0	0	0	0	1	607	1654	58	4		4	ANG	14	21162161	Silent	SNP	T	TCGA-2G-AAKM-01A-11D-A42Y-10		21162161	86187379	26	4322											
FLJ10357	55701	mdanderson.org	37	chr14	21542129	21542129	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcttcttccatgaggggtgGccgctctgcctgcatgaaca	6	11	11	13	1	3	2	0	2	3	0	4	2	4	2	3	3	3	2	3	3	1	2			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr14:21542129G>A	ENST00000298694.4	+	3	367	c.240G>A	c.(238-240)tgG>tgA	p.W80*	ARHGEF40_ENST00000298693.3_Nonsense_Mutation_p.W80*			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	80						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ATGAGGGGTGGCCGCTCTGCC	0.612																																					p.W80X													.	.			0			c.G240A												61	63	62					14																	21542129		2203	4300	6503	SO:0001587	stop_gained	55701	exon3			GGGGTGGCCGCTC		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.240G>A	14.37:g.21542129G>A	ENSP00000298694:p.Trp80*		46	0	0		44	0.07	3	NM_018071	7	0	0	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Nonsense_Mutation	SNP	ENST00000298694.4	37	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257456	0.95368	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	.	.	.	4.81	4.81	0.61882	.	0.000000	0.45867	D	0.000324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.42	0.75003	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000298693:W80X	W	+	3	0	ARHGEF40	20611969	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.753000	0.85153	2.504000	0.84457	0.561000	0.74099	TGG			0.612	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413122.1				A	21542129	G	A	21542129	4	1	60	1	0	0	0	0	0	1	0	0	5939	1212	42	2	250	2	FLJ10357	14	21542129	Nonsense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	379968	21542129	85807411	27	4323											
STON2	85439	mdanderson.org	37	chr14	81837529	81837529	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggcatggtcaatggtaggGctggggagagaccaaaaacc	13	5	16	7	0	1	1	1	0	0	1	1	3	1	2	2	6	1	3	2	6	4	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr14:81837529G>T	ENST00000267540.2	-	3	574	c.374C>A	c.(373-375)gCc>gAc	p.A125D	STON2_ENST00000555447.1_Splice_Site_p.A125D	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	125					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)		CAATGGTAGGGCTGGGGAGAG	0.448																																					p.A125D													.	.			0			c.C374A												69	69	69					14																	81837529		2203	4300	6503	SO:0001630	splice_region_variant	85439	exon5			GGTAGGGCTGGGG	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.374-1C>A	14.37:g.81837529G>T			75	0	0		37	0.08	3	NM_001256430	0		0	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389687	0.42410	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.56275	0.47;0.47	6.04	5.14	0.70334	Stonin-2, N-terminal (1);	0.590192	0.16796	N	0.199170	T	0.42063	0.1186	L	0.54323	1.7	0.27078	N	0.963154	B;B	0.27416	0.096;0.178	B;B	0.27380	0.061;0.079	T	0.33954	-0.9848	10	0.13853	T	0.58	.	5.2113	0.15318	0.0764:0.1625:0.6161:0.145	.	125;125	Q8WXE9;G3V2T7	STON2_HUMAN;.	D	125;137;125	ENSP00000450857:A125D;ENSP00000267540:A125D	ENSP00000267540:A125D	A	-	2	0	STON2	80907282	0.989000	0.36119	0.923000	0.36655	0.972000	0.66771	2.145000	0.42207	1.529000	0.49120	0.561000	0.74099	GCC			0.448	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000413317.1		NM_033104	Missense_Mutation	T	81837529	G	T	81837529	5	4	60	1	0	0	0	0	0	0	1	0	15341	1217	42	2	2353	2	STON2	14	81837529	Splice_Site	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	60295400	81837529	25512011	28	4324											
CAPN3	825	broad.mit.edu	37	chr15	42684848	42684848	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctacagacaatcattccGgttcagtatgagacaagaat	14	10	8	9	1	3	3	2	1	1	3	4	4	4	3	1	1	1	3	1	1	5	4			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr15:42684848G>T	ENST00000397163.3	+	7	1176	c.957G>T	c.(955-957)ccG>ccT	p.P319P	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.P319P|CAPN3_ENST00000356316.3_Silent_p.P232P|CAPN3_ENST00000318023.7_Silent_p.P319P|CAPN3_ENST00000349748.3_Silent_p.P271P	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	319	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		P -> L (in LGMD2A).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAATCATTCCGGTTCAGTATG	0.542																																					p.P319P													.	CAPN3	172		0			c.G957T												80	69	73					15																	42684848		2203	4299	6502	SO:0001819	synonymous_variant	825	exon7			CATTCCGGTTCAG	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.957G>T	15.37:g.42684848G>T			153	0	0		121	0.03	4	NM_000070	3	0	0	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	CCDS45245.1																																																																																					0.542	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421075.1				T	42684848	G	T	42684848	2	4	60	1	0	0	0	0	0	0	0	1	2630	1103	39	1		1	CAPN3	15	42684848	Silent	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10		42684848	59846544	29	4325											
ARIH1	25820	broad.mit.edu	37	chr15	72767235	72767235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggtggcgggccggg	0	3	28	10	9	0	0	0	0	0	0	0	0	0	0	1	13	0	0	1	13	0	0			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr15:72767235C>T	ENST00000379887.4	+	1	569	c.255C>T	c.(253-255)ggC>ggT	p.G85G	RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	85	Gly-rich.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						gcggcggcggcggtggtggtg	0.736																																					p.G85G													.	ARIH1	42		0			c.C255T												4	3	3					15																	72767235		1491	2998	4489	SO:0001819	synonymous_variant	25820	exon1			CGGCGGCGGTGGT	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.255C>T	15.37:g.72767235C>T			54	0	0		42	0.1	4	NM_005744	0		0	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Silent	SNP	ENST00000379887.4	37	CCDS10244.1																																																																																					0.736	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257350.1		NM_005744		T	72767235	C	T	72767235	2	4	60	1	0	0	0	0	0	0	0	1	923	755	27	1		1	ARIH1	15	72767235	Silent	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10	30082387	72767235	29764157	30	4326											
RASGRF1	5923	hgsc.bcm.edu;broad.mit.edu	37	chr15	79284128	79284128	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagggctcagccttcacGccttcagcctggttttgagt	7	12	10	12	1	4	1	4	1	0	0	4	1	4	1	3	2	2	2	3	2	1	4	rs147869279	byFrequency	TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr15:79284128G>T	ENST00000419573.3	-	22	3358	c.3084C>A	c.(3082-3084)ggC>ggA	p.G1028G	RASGRF1_ENST00000394745.3_Silent_p.G244G|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.G1012G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1028					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1028G(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGCCTTCACGCCTTCAGCCT	0.547																																					p.G1028G													RASGRF1,colon,carcinoma,0,1	RASGRF1	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C3084A												91	80	84					15																	79284128		2196	4293	6489	SO:0001819	synonymous_variant	5923	exon22			CTTCACGCCTTCA	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3084C>A	15.37:g.79284128G>T			102	0	0		94	0.04	4	NM_002891	0		0	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																					0.547	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000291371.3		NM_002891		T	79284128	G	T	79284128	2	4	60	1	0	0	0	0	0	0	0	1	13095	1074	38	1		1	RASGRF1	15	79284128	Silent	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	6516893	79284128	23247264	31	4327											
ZNF598	90850	mdanderson.org	37	chr16	2052283	2052283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctggcgtgcctcggcgcgGctgcgactgtggcaggccgt	2	9	17	13	6	1	0	0	0	1	0	2	1	1	0	2	5	2	2	2	5	0	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr16:2052283G>T	ENST00000563630.1	-	5	896	c.654C>A	c.(652-654)agC>agA	p.S218R	ZNF598_ENST00000562103.1_Missense_Mutation_p.S218R|ZNF598_ENST00000431526.1_Missense_Mutation_p.S273R			Q86UK7	ZN598_HUMAN	zinc finger protein 598	273							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCTCGGCGCGGCTGCGACTGT	0.677																																					p.S273R													ZNF598,NS,carcinoma,-1,1	ZNF598	-1	1	0			c.C819A												32	43	39					16																	2052283		2152	4222	6374	SO:0001583	missense	90850	exon7			GGCGCGGCTGCGA	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.654C>A	16.37:g.2052283G>T	ENSP00000455882:p.Ser218Arg		17	0	0		32	0.09	3	NM_178167	92	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	19.46	3.831103	0.71258	.	.	ENSG00000167962	ENST00000431526	T	0.14022	2.54	4.68	3.71	0.42584	.	0.046850	0.85682	D	0.000000	T	0.20495	0.0493	N	0.25825	0.765	0.34114	D	0.66328	D	0.69078	0.997	D	0.62955	0.909	T	0.20538	-1.0272	10	0.41790	T	0.15	-25.6447	12.2586	0.54636	0.0849:0.0:0.9151:0.0	.	273	Q86UK7	ZN598_HUMAN	R	273	ENSP00000411409:S273R	ENSP00000411409:S273R	S	-	3	2	ZNF598	1992284	1.000000	0.71417	0.998000	0.56505	0.664000	0.39144	4.444000	0.60001	0.942000	0.37525	0.462000	0.41574	AGC			0.677	ZNF598-001	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000434439.1		NM_178167		T	2052283	G	T	2052283	3	4	60	1	0	0	0	0	1	0	0	0	18051	1194	42	2	1927	2	ZNF598	16	2052283	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10		2052283	88302470	32	4328											
KIF22	3835	mdanderson.org	37	chr16	29809712	29809712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggtttgatgccttctatgGggagaggagtactcagcagg	9	10	15	7	0	2	2	1	1	1	1	2	4	2	3	1	5	3	3	1	5	2	4			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr16:29809712G>T	ENST00000160827.4	+	3	324	c.284G>T	c.(283-285)gGg>gTg	p.G95V	KIF22_ENST00000400751.5_Missense_Mutation_p.G27V|KIF22_ENST00000569382.2_Missense_Mutation_p.G27V|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Missense_Mutation_p.G27V	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	95	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)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCCTTCTATGGGGAGAGGAGT	0.532																																					p.G95V													.	.			0			c.G284T												124	114	117					16																	29809712		2197	4300	6497	SO:0001583	missense	3835	exon3			TCTATGGGGAGAG	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.284G>T	16.37:g.29809712G>T	ENSP00000160827:p.Gly95Val		49	0	0		47	0.06	3	NM_007317	178	0	0	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.695843	0.68386	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.74315	-0.83;-0.83	5.85	5.85	0.93711	Kinesin, motor domain (4);	.	.	.	.	D	0.88362	0.6416	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.89629	0.3854	9	0.87932	D	0	.	17.6554	0.88176	0.0:0.0:1.0:0.0	.	27;95	B7Z265;Q14807	.;KIF22_HUMAN	V	95;27	ENSP00000160827:G95V;ENSP00000383562:G27V	ENSP00000160827:G95V	G	+	2	0	KIF22	29717213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.387000	0.59626	2.772000	0.95346	0.655000	0.94253	GGG			0.532	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215012.2				T	29809712	G	T	29809712	3	4	60	1	0	0	0	0	1	0	0	0	8305	1232	43	3	294	3	KIF22	16	29809712	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	27757429	29809712	60545041	33	4329											
FBXL19	54620	mdanderson.org	37	chr16	30941668	30941668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggcgggctgtgcgccCtggcagtggggggcccctac	2	5	21	13	3	0	0	0	0	0	0	0	0	0	0	3	8	2	2	3	8	1	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr16:30941668C>A	ENST00000380310.2	+	7	1282	c.1124C>A	c.(1123-1125)cCt>cAt	p.P375H	FBXL19_ENST00000562319.1_Missense_Mutation_p.P355H|FBXL19_ENST00000338343.4_Missense_Mutation_p.P355H|FBXL19_ENST00000565690.1_Missense_Mutation_p.P239H|FBXL19_ENST00000471231.2_Missense_Mutation_p.P63H	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	375	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCTGTGCGCCCTGGCAGTGGG	0.766																																					p.P375H													.	.			0			c.C1124A												5	6	6					16																	30941668		1574	3579	5153	SO:0001583	missense	54620	exon7			TGCGCCCTGGCAG	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1124C>A	16.37:g.30941668C>A	ENSP00000369666:p.Pro375His		27	0	0		29	0.1	3	NM_001099784	24	0	0	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485615	0.44147	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.22945	1.93;2.25	5.3	5.3	0.74995	.	0.537818	0.16543	N	0.209826	T	0.22003	0.0530	N	0.01352	-0.895	0.38648	D	0.951781	D;D	0.76494	0.999;0.999	P;D	0.65684	0.867;0.937	T	0.49041	-0.8980	10	0.15499	T	0.54	-7.1126	17.7257	0.88364	0.0:1.0:0.0:0.0	.	375;332	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	H	355;375	ENSP00000339712:P355H;ENSP00000369666:P375H	ENSP00000339712:P355H	P	+	2	0	FBXL19	30849169	0.987000	0.35691	0.969000	0.41365	0.382000	0.30200	2.869000	0.48444	2.490000	0.84030	0.655000	0.94253	CCT			0.766	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_019085		A	30941668	C	A	30941668	3	1	60	1	0	0	0	0	1	0	0	0	5728	681	24	3	1150	3	FBXL19	16	30941668	Missense_Mutation	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10	1131956	30941668	59413085	34	4330											
FAM65A	79567	mdanderson.org	37	chr16	67576061	67576061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgaggctagtgtagatGctgccttggctgaggcttca	7	12	14	8	0	2	3	2	2	0	1	2	3	2	3	1	3	2	5	1	3	2	4			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr16:67576061G>T	ENST00000379312.3	+	13	1505	c.1384G>T	c.(1384-1386)Gct>Tct	p.A462S	CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.A458S|FAM65A_ENST00000428437.2_Missense_Mutation_p.A472S|FAM65A_ENST00000422602.2_Missense_Mutation_p.A478S|FAM65A_ENST00000540839.3_Missense_Mutation_p.A478S	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	462						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TAGTGTAGATGCTGCCTTGGC	0.632																																					p.A478S													.	.			0			c.G1432T												70	66	67					16																	67576061		2198	4300	6498	SO:0001583	missense	79567	exon13			GTAGATGCTGCCT	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1384G>T	16.37:g.67576061G>T	ENSP00000368614:p.Ala462Ser		70	0.0142857143	1		52	0.06	3	NM_001193523	18	0	0	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.84|19.84	3.902818|3.902818	0.72754|0.72754	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.35048|.	1.33;1.33;1.33|.	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	0.334384|.	0.31472|.	N|.	0.007584|.	T|T	0.58192|0.58192	0.2105|0.2105	L|L	0.41236|0.41236	1.265|1.265	0.41657|0.41657	D|D	0.989166|0.989166	D;D;D;D|.	0.60575|.	0.988;0.988;0.988;0.988|.	P;P;P;P|.	0.54759|.	0.76;0.76;0.76;0.696|.	T|T	0.56420|0.56420	-0.7982|-0.7982	10|5	0.10636|.	T|.	0.68|.	-11.1896|-11.1896	13.9141|13.9141	0.63885|0.63885	0.0:0.1533:0.8467:0.0|0.0:0.1533:0.8467:0.0	.|.	472;478;462;478|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	S|F	462;458;478;472|452	ENSP00000368614:A462S;ENSP00000042381:A458S;ENSP00000400099:A478S|.	ENSP00000042381:A458S|.	A|C	+|+	1|2	0|0	FAM65A|FAM65A	66133562|66133562	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.914000|0.914000	0.54420|0.54420	7.432000|7.432000	0.80349|0.80349	2.104000|2.104000	0.64026|0.64026	0.549000|0.549000	0.68633|0.68633	GCT|TGC			0.632	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000268866.3		NM_024519		T	67576061	G	T	67576061	3	4	60	1	0	0	0	0	1	0	0	0	5612	1319	46	2	1418	2	FAM65A	16	67576061	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	36634393	67576061	22778692	35	4331											
SMTNL2	342527	mdanderson.org	37	chr17	4500213	4500213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttcggcgtggccagcGccagcagcatcaagcagatc	10	5	13	13	3	1	2	1	0	0	2	3	2	1	2	2	2	5	4	2	2	1	1	rs200110141		TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr17:4500213G>A	ENST00000389313.4	+	6	1115	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	SMTNL2_ENST00000338859.4_Missense_Mutation_p.A206T	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	350										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CGTGGCCAGCGCCAGCAGCAT	0.721													G|||	1	0.000199681	0	0.0014	5008	,	,		15800	0		0	False		,,,				2504	0				p.A350T													.	.			0			c.G1048A												11	11	11					17																	4500213		2049	4046	6095	SO:0001583	missense	342527	exon6			GCCAGCGCCAGCA	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1048G>A	17.37:g.4500213G>A	ENSP00000373964:p.Ala350Thr		37	0	0		42	0.07	3	NM_001114974	9	0	0	Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	CCDS45583.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.600166	0.96614	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	T;T	0.59638	0.25;0.25	5.51	5.51	0.81932	Calponin homology domain (1);	.	.	.	.	T	0.63165	0.2488	N	0.17082	0.46	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65080	-0.6255	9	0.46703	T	0.11	-29.103	17.2848	0.87138	0.0:0.0:1.0:0.0	.	350	Q2TAL5	SMTL2_HUMAN	T	206;350	ENSP00000345143:A206T;ENSP00000373964:A350T	ENSP00000345143:A206T	A	+	1	0	SMTNL2	4446962	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	3.931000	0.56529	2.768000	0.95171	0.561000	0.74099	GCC	0		0.721	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439129.1		NM_198501		A	4500213	G	A	4500213	3	1	60	1	0	0	0	0	1	0	0	0	14839	1087	38	1	1070	1	SMTNL2	17	4500213	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10		4500213	76694997	36	4332											
RPAIN	4927	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	5324644	5324644	+	5'Flank	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaatgagaaacagccGggacaggctcctaaacaggt	15	4	14	8	1	0	2	0	1	0	2	1	6	1	4	2	4	3	1	2	4	4	1	rs562693433		TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr17:5324644G>C	ENST00000573584.1	-	0	0				RPAIN_ENST00000405578.4_Missense_Mutation_p.R37P|RPAIN_ENST00000327154.6_Missense_Mutation_p.R37P|RPAIN_ENST00000381208.5_Missense_Mutation_p.R37P|RPAIN_ENST00000381209.3_Missense_Mutation_p.R37P|RPAIN_ENST00000574003.1_Missense_Mutation_p.R37P|RPAIN_ENST00000536255.2_Missense_Mutation_p.R37P	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						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)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						AGAAACAGCCGGGACAGGCTC	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		17651	0		0	False		,,,				2504	0				p.R37P													.	RPAIN	24		0			c.G110C												53	56	55					17																	5324644		2203	4300	6503	SO:0001631	upstream_gene_variant	84268	exon2			ACAGCCGGGACAG	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453		17.37:g.5324644G>C	Exception_encountered		98	0.0102040816	1		127	0.1	13	NM_001160246	207	0.12	25	D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364825	0.82463	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000539417;ENST00000536255;ENST00000405578;ENST00000540734;ENST00000327154	T;T;T;T;T;T	0.74842	-0.34;-0.32;-0.87;-0.48;-0.39;-0.88	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	M	0.82323	2.585	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	1.0;0.999;1.0;0.999;1.0;1.0	D	0.88715	0.3225	10	0.87932	D	0	2.0E-4	17.8325	0.88687	0.0:0.0:1.0:0.0	.	37;37;37;37;37;37	F5GYE1;F5H3Q7;E9PES3;Q86UA6-6;E9PDG9;Q86UA6	.;.;.;.;.;RIP_HUMAN	P	37	ENSP00000370606:R37P;ENSP00000370605:R37P;ENSP00000446453:R37P;ENSP00000439939:R37P;ENSP00000385814:R37P;ENSP00000315069:R37P	ENSP00000315069:R37P	R	+	2	0	RPAIN	5265368	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.643000	0.74334	2.797000	0.96272	0.563000	0.77884	CGG			0.448	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216918.3		NM_002532		C	5324644	G	C	5324644	1	2	60	0	1	0	0	0	0	0	0	0	13563	1116	39	5		5	RPAIN	17	5324644	5'Flank	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	824431	5324644	75870566	37	4333											
CHD3	1107	broad.mit.edu	37	chr17	7812537	7812537	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgcaggagccggcgcAccccgccatggccctccacg	5	4	12	20	5	0	0	0	0	0	0	2	1	1	1	7	3	1	2	7	3	0	0			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr17:7812537A>C	ENST00000330494.7	+	37	5621	c.5471A>C	c.(5470-5472)cAc>cCc	p.H1824P	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.H1790P|CHD3_ENST00000380358.4_Missense_Mutation_p.H1883P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1824	Required for interaction with PCNT.				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)				GAGCCGGCGCACCCCGCCATG	0.711																																					p.H1883P													CHD3,NS,carcinoma,0,1	CHD3	169	1	0			c.A5648C												5	5	5					17																	7812537		2046	3980	6026	SO:0001583	missense	1107	exon37			CGGCGCACCCCGC	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.5471A>C	17.37:g.7812537A>C	ENSP00000332628:p.His1824Pro		63	0.1428571429	9		101	0.2	20	NM_001005271	41	0.05	2	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	a	15.50	2.852503	0.51270	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235;ENST00000449744	D;D;D	0.91011	-2.77;-2.75;-2.71	4.28	4.28	0.50868	CHD, C-terminal 2 (1);	0.000000	0.40385	U	0.001111	D	0.94128	0.8117	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.76494	0.999;0.958;0.98;0.999	D;D;D;D	0.85130	0.997;0.953;0.961;0.99	D	0.94697	0.7879	10	0.87932	D	0	-6.4582	13.5518	0.61736	1.0:0.0:0.0:0.0	.	401;1790;1824;1883	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	P	1883;1790;1824;152;116	ENSP00000369716:H1883P;ENSP00000350907:H1790P;ENSP00000332628:H1824P	ENSP00000332628:H1824P	H	+	2	0	CHD3	7753262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.008000	0.93601	1.786000	0.52430	0.398000	0.26397	CAC			0.711	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318050.1		NM_001005273		C	7812537	A	C	7812537	3	2	60	1	0	0	0	0	1	0	0	0	3328	159	6	4	5898	4	CHD3	17	7812537	Missense_Mutation	SNP	A	TCGA-2G-AAKM-01A-11D-A42Y-10	2487893	7812537	73382673	38	4334											
TOP2A	7153	broad.mit.edu	37	chr17	38555154	38555154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttttcagtttccttttcGttgtcactctcttcattttc	3	23	3	12	1	5	0	3	0	2	0	9	0	6	0	1	0	0	2	1	0	0	9	rs544012355		TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr17:38555154G>T	ENST00000423485.1	-	26	3482	c.3324C>A	c.(3322-3324)aaC>aaA	p.N1108K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1108					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTTCCTTTTCGTTGTCACTCT	0.333																																					p.N1108K													TOP2A,colon,carcinoma,0,1	TOP2A	124	1	0			c.C3324A												136	122	126					17																	38555154		1848	4093	5941	SO:0001583	missense	7153	exon26			CTTTTCGTTGTCA		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3324C>A	17.37:g.38555154G>T	ENSP00000411532:p.Asn1108Lys		136	0	0		165	0.02	4	NM_001067	184	0	0	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	3.625	-0.076839	0.07184	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.21932	1.98	5.56	-2.23	0.06930	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, subunit A, alpha-helical (1);DNA topoisomerase, type IIA, central (1);	0.774294	0.13125	N	0.411935	T	0.10637	0.0260	L	0.34521	1.04	0.19300	N	0.999976	B	0.02656	0.0	B	0.09377	0.004	T	0.32402	-0.9908	10	0.21014	T	0.42	.	1.6924	0.02855	0.4293:0.2065:0.2537:0.1105	.	1108	P11388	TOP2A_HUMAN	K	1108;1188;1131;1144	ENSP00000411532:N1108K	ENSP00000269577:N1188K	N	-	3	2	TOP2A	35808680	0.000000	0.05858	0.011000	0.14972	0.717000	0.41224	-0.690000	0.05138	-0.821000	0.04312	-1.068000	0.02270	AAC			0.333	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338035.1				T	38555154	G	T	38555154	3	4	60	1	0	0	0	0	1	0	0	0	16389	1136	40	1	1311	1	TOP2A	17	38555154	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	30742617	38555154	42640056	39	4335											
LRRC59	55379	broad.mit.edu	37	chr17	48460490	48460490	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgacaagcaaccagcccTcccgccacaccaaatagcag	14	2	6	19	2	0	0	0	0	0	0	1	1	1	0	6	0	4	2	6	0	4	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr17:48460490T>C	ENST00000225972.7	-	7	1018	c.783A>G	c.(781-783)ggA>ggG	p.G261G		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	261						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAACCAGCCCTCCCGCCACAC	0.632																																					p.G261G													.	LRRC59	23		0			c.A783G												24	21	22					17																	48460490		2201	4291	6492	SO:0001819	synonymous_variant	55379	exon7			CAGCCCTCCCGCC	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.783A>G	17.37:g.48460490T>C			69	0.2463768116	17		101	0.22	22	NM_018509	339	0.09	32	B2RE83|D3DTX8|Q9P189	Silent	SNP	ENST00000225972.7	37	CCDS11566.1																																																																																					0.632	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367117.2		NM_018509		C	48460490	T	C	48460490	2	2	60	1	0	0	0	0	0	0	0	1	9031	1538	54	4		4	LRRC59	17	48460490	Silent	SNP	T	TCGA-2G-AAKM-01A-11D-A42Y-10	9905336	48460490	32734720	40	4336											
RPTOR	57521	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	78858821	78858821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcaggtccgctgcgcagCggtcttcgcccttggcacgt	3	10	13	15	5	1	0	0	0	1	0	3	0	2	0	2	3	3	4	2	3	0	3			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr17:78858821C>T	ENST00000306801.3	+	17	2218	c.1856C>T	c.(1855-1857)gCg>gTg	p.A619V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	619					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A619V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGCTGCGCAGCGGTCTTCGCC	0.657																																					p.A619V													RPTOR,rectum,carcinoma,0,1	RPTOR	122	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1856T												47	35	39					17																	78858821		2200	4299	6499	SO:0001583	missense	57521	exon17			GCGCAGCGGTCTT		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1856C>T	17.37:g.78858821C>T	ENSP00000307272:p.Ala619Val		174	0	0		219	0.03	7	NM_020761	19	0.05	1	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559898	0.45590	.	.	ENSG00000141564	ENST00000306801	T	0.49720	0.77	4.78	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	L	0.52266	1.64	0.80722	D	1	D	0.69078	0.997	P	0.60012	0.867	T	0.52540	-0.8562	10	0.18276	T	0.48	.	17.8063	0.88602	0.0:1.0:0.0:0.0	.	619	Q8N122	RPTOR_HUMAN	V	619	ENSP00000307272:A619V	ENSP00000307272:A619V	A	+	2	0	RPTOR	76473416	1.000000	0.71417	0.094000	0.20943	0.010000	0.07245	7.323000	0.79105	2.209000	0.71365	0.462000	0.41574	GCG			0.657	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438125.1	rescued with RNA-seq	NM_020761		T	78858821	C	T	78858821	3	4	60	1	0	0	0	0	1	0	0	0	13688	768	27	1	1922	1	RPTOR	17	78858821	Missense_Mutation	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10	30398331	78858821	2336389	41	4337											
C17orf70	80233	mdanderson.org	37	chr17	79507958	79507958	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccggtcgcgcagggtctGcacctcccgcagcagtgtct	5	7	14	15	4	2	0	0	0	2	0	4	1	3	0	3	2	3	4	3	2	0	0			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr17:79507958G>A	ENST00000327787.8	-	9	2579	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	C17orf70_ENST00000425898.2_Nonsense_Mutation_p.Q494*|C17orf70_ENST00000537152.1_Nonsense_Mutation_p.Q694*			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	845					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGCAGGGTCTGCACCTCCCGC	0.687																																					p.Q845X													.	.			0			c.C2533T												12	13	13					17																	79507958		2161	4239	6400	SO:0001587	stop_gained	80233	exon9			GGGTCTGCACCTC	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2533C>T	17.37:g.79507958G>A	ENSP00000333283:p.Gln845*		15	0	0		32	0.09	3	NM_025161	91	0	0	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Nonsense_Mutation	SNP	ENST00000327787.8	37	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	42	9.324809	0.99137	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	.	.	.	4.16	4.16	0.48862	.	0.171732	0.39615	N	0.001313	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.4536	0.61184	0.0:0.0:1.0:0.0	.	.	.	.	X	845;494;218;694	.	ENSP00000333283:Q845X	Q	-	1	0	C17orf70	77118433	1.000000	0.71417	0.995000	0.50966	0.765000	0.43378	6.575000	0.74018	2.144000	0.66660	0.591000	0.81541	CAG			0.687	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396170.1		NM_025161		A	79507958	G	A	79507958	4	1	60	1	0	0	0	0	0	1	0	0	1879	1328	46	2	116	2	C17orf70	17	79507958	Nonsense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	649137	79507958	1687252	42	4338											
CTAGE1	64693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	19997302	19997302	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtcattttggcttcaGctacttgtgatttgagggat	8	16	12	5	0	2	3	2	3	0	0	2	4	2	4	0	3	2	2	0	3	2	6			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr18:19997302G>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.A158G			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTTGGCTTCAGCTACTTGTGA	0.373																																					p.A158G													.	.			0			c.C473G												105	115	112					18																	19997302		2194	4291	6485	SO:0001631	upstream_gene_variant	64693	exon1			GCTTCAGCTACTT	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997302G>C	Exception_encountered		113	0	0		82	0.32	26	NM_172241	1	0	0	B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37		.	.	.	.	.	.	.	.	.	.	G	12.30	1.896205	0.33442	.	.	ENSG00000212710	ENST00000391403	T	0.39056	1.1	0.909	-1.82	0.07857	.	.	.	.	.	T	0.54431	0.1858	M	0.83953	2.67	0.09310	N	1	P	0.48230	0.907	P	0.55055	0.767	T	0.49995	-0.8879	8	.	.	.	.	6.4572	0.21936	0.0:0.5822:0.4178:0.0	.	158	Q96RT6	CTGE2_HUMAN	G	158	ENSP00000375220:A158G	.	A	-	2	0	CTAGE1	18251300	0.469000	0.25846	0.021000	0.16686	0.459000	0.32528	0.216000	0.17585	-0.882000	0.03987	-0.507000	0.04495	GCT			0.373	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000386767.1		NM_022663, NM_172241		C	19997302	G	C	19997302	1	2	60	0	1	0	0	0	0	0	0	0	3994	971	34	5		5	CTAGE1	18	19997302	5'Flank	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10		19997302	58079946	43	4339											
PHLPP1	23239	mdanderson.org	37	chr18	60384158	60384158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacggcttcctcgcctcaGccgcagcagaaagccccgag	9	4	11	17	4	1	2	1	0	0	2	3	3	2	2	5	1	3	3	5	1	1	1			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr18:60384158G>T	ENST00000262719.5	+	1	1476	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H	PHLPP1_ENST00000400316.4_5'UTR			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	414					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CCTCGCCTCAGCCGCAGCAGA	0.791																																					p.Q414H													.	.			0			c.G1242T																																									SO:0001583	missense	23239	exon1			GCCTCAGCCGCAG	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1242G>T	18.37:g.60384158G>T	ENSP00000262719:p.Gln414His		12	0	0		16	0.13	2	NM_194449	2	0	0	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	2.363	-0.346126	0.05208	.	.	ENSG00000081913	ENST00000262719	T	0.25414	1.8	2.91	1.65	0.23941	.	.	.	.	.	T	0.12220	0.0297	N	0.08118	0	0.21064	N	0.999791	.	.	.	.	.	.	T	0.24657	-1.0154	7	0.46703	T	0.11	6.7647	4.1103	0.10055	0.3127:0.0:0.6873:0.0	.	.	.	.	H	414	ENSP00000262719:Q414H	ENSP00000262719:Q414H	Q	+	3	2	PHLPP1	58535138	0.002000	0.14202	0.009000	0.14445	0.171000	0.22731	0.876000	0.28092	0.164000	0.19529	0.462000	0.41574	CAG			0.791	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319249.2		NM_194449		T	60384158	G	T	60384158	3	4	60	1	0	0	0	0	1	0	0	0	11871	962	34	2	1244	2	PHLPP1	18	60384158	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	40386856	60384158	17693090	44	4340											
FBL	2091	hgsc.bcm.edu	37	chr19	40325395	40325395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgttctcctgttgcatcTttttcacttcggaggcaaac	7	16	7	11	1	4	0	2	0	2	0	6	1	4	1	1	2	2	4	1	2	1	5			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr19:40325395T>C	ENST00000221801.3	-	8	967	c.854A>G	c.(853-855)aAg>aGg	p.K285R	FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000597639.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000430012.2_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	285	Helical. {ECO:0000255}.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CTGTTGCATCTTTTTCACTTC	0.542																																					p.K285R													FBL,NS,carcinoma,+1,1	FBL	1	1	0			c.A854G												118	99	106					19																	40325395		2203	4300	6503	SO:0001583	missense	2091	exon8			TGCATCTTTTTCA	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.854A>G	19.37:g.40325395T>C	ENSP00000221801:p.Lys285Arg		105	0.0095238095	1		100	0.04	4	NM_001436	1842	0	1	B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985469	0.74589	.	.	ENSG00000105202	ENST00000221801	D	0.83755	-1.76	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.71920	2.185	0.80722	D	1	B;B	0.20368	0.003;0.044	B;B	0.26202	0.012;0.067	T	0.80118	-0.1516	10	0.51188	T	0.08	-17.4554	14.3004	0.66346	0.0:0.0:0.0:1.0	.	224;285	Q96BS4;P22087	.;FBRL_HUMAN	R	285	ENSP00000221801:K285R	ENSP00000221801:K285R	K	-	2	0	FBL	45017235	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.349000	0.79376	2.254000	0.74563	0.533000	0.62120	AAG			0.542	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462509.4		NM_001436		C	40325395	T	C	40325395	3	2	60	1	0	0	0	0	1	0	0	0	5709	1609	56	4	119	4	FBL	19	40325395	Missense_Mutation	SNP	T	TCGA-2G-AAKM-01A-11D-A42Y-10		40325395	18803588	45	4341											
BLVRB	645	mdanderson.org	37	chr19	40964299	40964299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcagtactgaggtcattgCgggtgcccagcagcacgatg	8	8	14	11	2	2	1	2	1	0	0	2	2	2	1	1	2	5	4	1	2	1	2			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr19:40964299C>T	ENST00000263368.4	-	2	384	c.233G>A	c.(232-234)cGc>cAc	p.R78H	BLVRB_ENST00000595483.1_Missense_Mutation_p.R78H	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	78					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	GAGGTCATTGCGGGTGCCCAG	0.726																																					p.R78H													.	.			0			c.G233A												29	23	25					19																	40964299		2191	4287	6478	SO:0001583	missense	645	exon2			TCATTGCGGGTGC	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"Short chain dehydrogenase/reductase superfamily / Atypical members"	1063	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 43U, member 1"	600941	"Flavin reductase"	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.233G>A	19.37:g.40964299C>T	ENSP00000263368:p.Arg78His		50	0	0		29	0.1	3	NM_000713	126	0	0	A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Missense_Mutation	SNP	ENST00000263368.4	37	CCDS33029.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049556	0.75846	.	.	ENSG00000090013	ENST00000263368	T	0.31769	1.48	4.72	3.67	0.42095	NAD(P)-binding domain (1);NmrA-like (1);	0.402421	0.30356	N	0.009815	T	0.41789	0.1174	M	0.84433	2.695	0.58432	D	0.999998	P	0.51147	0.942	B	0.43536	0.423	T	0.56372	-0.7990	10	0.59425	D	0.04	-6.0766	14.099	0.65042	0.0:0.8477:0.1523:0.0	.	78	P30043	BLVRB_HUMAN	H	78	ENSP00000263368:R78H	ENSP00000263368:R78H	R	-	2	0	BLVRB	45656139	1.000000	0.71417	0.072000	0.20136	0.935000	0.57460	6.722000	0.74735	1.333000	0.45449	0.557000	0.71058	CGC			0.726	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462563.1				T	40964299	C	T	40964299	3	4	60	1	0	0	0	0	1	0	0	0	1452	768	27	1	403	1	BLVRB	19	40964299	Missense_Mutation	SNP	C	TCGA-2G-AAKM-01A-11D-A42Y-10	638904	40964299	18164684	46	4342											
SPTBN4	57731	broad.mit.edu	37	chr19	41073695	41073695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcggccagggggctatgaaAggggcttggagcccctggcc	6	6	18	11	1	0	1	0	1	0	0	0	2	0	2	4	7	2	2	4	7	2	2			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr19:41073695A>G	ENST00000352632.3	+	31	6549	c.6463A>G	c.(6463-6465)Agg>Ggg	p.R2155G	SPTBN4_ENST00000392025.1_Missense_Mutation_p.R898G|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2155G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2155					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)			GGGCTATGAAAGGGGCTTGGA	0.716																																					p.R2155G													.	SPTBN4	213		0			c.A6463G												3	3	3					19																	41073695		1836	3779	5615	SO:0001583	missense	57731	exon31			TATGAAAGGGGCT	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.6463A>G	19.37:g.41073695A>G	ENSP00000263373:p.Arg2155Gly		91	0.1428571429	13		77	0.25	19	NM_020971	0		0	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653135	0.29425	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.76060	-0.99;0.35	4.73	-0.525	0.11917	.	.	.	.	.	T	0.47637	0.1456	N	0.08118	0	0.40809	D	0.983401	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19095	-1.0316	9	0.12766	T	0.61	.	8.5689	0.33556	0.3766:0.5424:0.0809:0.0	.	898;2155	C9JY79;Q9H254	.;SPTN4_HUMAN	G	2155;2155;898	ENSP00000263373:R2155G;ENSP00000375879:R898G	ENSP00000263373:R2155G	R	+	1	2	SPTBN4	45765535	0.001000	0.12720	0.141000	0.22245	0.859000	0.49053	-0.010000	0.12743	-0.135000	0.11495	-0.619000	0.04042	AGG			0.716	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462559.2				G	41073695	A	G	41073695	3	3	60	1	0	0	0	0	1	0	0	0	15144	63	3	4	6675	4	SPTBN4	19	41073695	Missense_Mutation	SNP	A	TCGA-2G-AAKM-01A-11D-A42Y-10	109396	41073695	18055288	47	4343											
RPS19	6223	mdanderson.org	37	chr19	42364899	42364899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagttcgtcagagctctgGcagccttcctcaaaaagtga	11	9	11	10	1	3	2	2	1	1	1	5	3	4	3	2	2	2	3	2	2	2	2			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr19:42364899G>A	ENST00000598742.1	+	2	427	c.55G>A	c.(55-57)Gca>Aca	p.A19T	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Missense_Mutation_p.A19T	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	19			LA -> E (in DBA1).		cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAGAGCTCTGGCAGCCTTCCT	0.557									Diamond-Blackfan Anemia																												p.A19T													.	.			0			c.G55A												124	125	124					19																	42364899		2203	4300	6503	SO:0001583	missense	6223	exon2	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	GCTCTGGCAGCCT	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"S ribosomal proteins"	10402	protein-coding gene	gene with protein product	"Diamond-Blackfan anemia"	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.55G>A	19.37:g.42364899G>A	ENSP00000470972:p.Ala19Thr		69	0	0		44	0.07	3	NM_001022	9413	0	2		Missense_Mutation	SNP	ENST00000598742.1	37	CCDS12588.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405174	0.96051	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	M	0.92555	3.32	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.88899	0.3351	9	0.87932	D	0	-13.9021	15.585	0.76475	0.0:0.0:1.0:0.0	.	19	P39019	RS19_HUMAN	T	19	.	ENSP00000221975:A19T	A	+	1	0	RPS19	47056739	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.334000	0.59291	2.476000	0.83614	0.655000	0.94253	GCA			0.557	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463049.1		NM_001022		A	42364899	G	A	42364899	3	1	60	1	0	0	0	0	1	0	0	0	13652	1203	42	2	57	2	RPS19	19	42364899	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10	1291204	42364899	16764084	48	4344											
BLOC1S3	388552	broad.mit.edu	37	chr19	45682769	45682769	+	Frame_Shift_Del	DEL	A	A	-																															ggagccggagccggagccggAaccgacggccgcgccgaggg																										TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr19:45682769delA	ENST00000433642.2	+	2	311	c.215delA	c.(214-216)gaafs	p.E72fs	BLOC1S3_ENST00000587722.1_Frame_Shift_Del_p.E72fs|TRAPPC6A_ENST00000585934.1_5'Flank|AC005779.2_ENST00000593083.1_5'Flank|TRAPPC6A_ENST00000592647.1_5'Flank|TRAPPC6A_ENST00000588062.1_5'Flank|TRAPPC6A_ENST00000006275.4_5'Flank	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	72					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133)				ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCGGAGCCGGAACCGACGGCC	0.791									Hermansky-Pudlak syndrome																												p.E72fs													.	BLOC1S3	4		0			c.215delA												1	2	2					19																	45682769		1022	2320	3342	SO:0001589	frameshift_variant	388552	exon2	Familial Cancer Database	HPS, HPS1-8	AGCCGGAACCGAC	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114		"Biogenesis of lysosomal organelles complex-1 subunits"	20914	protein-coding gene	gene with protein product	"BLOC-1 subunit 3", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 3", "Hermansky-Pudlak syndrome 8"	609762				15102850	Standard	NM_212550		Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.215delA	19.37:g.45682769delA	ENSP00000393840:p.Glu72fs		5	0	0		6	0.33	2	NM_212550	0		0	B2RXB8	Frame_Shift_Del	DEL	ENST00000433642.2	37	CCDS12656.1																																																																																					0.791	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457559.1		NM_212550		-	45682769	A	-	45682769	7	5	60	1	0	1	0	1	0	0	0	0	1450	246	9	0	217	0	BLOC1S3	19	45682769	Frame_Shift_Del	DEL	A	TCGA-2G-AAKM-01A-11D-A42Y-10	3317870	45682769	13446214	49	4345											
SLC7A4	6545	mdanderson.org	37	chr22	21385978	21385978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccacgcccagaagagtcaGgtccagcgtggacaggcagc	11	3	13	14	2	1	2	1	0	0	2	2	3	2	3	3	3	2	1	3	3	1	0			TCGA-2G-AAKM-01A-11D-A42Y-10	TCGA-2G-AAKM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8473a77-81c3-414f-b0a5-86648ae24892	b3877f2d-d476-43dd-8e0c-008ad1e0029a	g.chr22:21385978G>T	ENST00000382932.2	-	2	191	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.L42M	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	42					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAAGAGTCAGGTCCAGCGTG	0.642																																					p.L42M													.	.			0			c.C124A												62	54	57					22																	21385978		2203	4300	6503	SO:0001583	missense	6545	exon2			GAGTCAGGTCCAG	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.124C>A	22.37:g.21385978G>T	ENSP00000372390:p.Leu42Met		59	0	0		46	0.07	3	NM_004173	0		0	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489741	0.64074	.	.	ENSG00000099960	ENST00000403586;ENST00000382932;ENST00000426145	D;D;T	0.91124	-2.79;-2.79;0.27	5.37	0.86	0.19042	Amino acid permease domain (1);	0.000000	0.64402	D	0.000001	D	0.95762	0.8621	H	0.96833	3.89	0.47308	D	0.999382	D	0.89917	1.0	D	0.80764	0.994	D	0.92786	0.6244	10	0.87932	D	0	.	5.6522	0.17622	0.2501:0.1429:0.607:0.0	.	42	O43246	CTR4_HUMAN	M	42	ENSP00000384278:L42M;ENSP00000372390:L42M;ENSP00000408727:L42M	ENSP00000372390:L42M	L	-	1	2	SLC7A4	19715978	1.000000	0.71417	0.994000	0.49952	0.623000	0.37688	2.570000	0.45981	0.054000	0.16065	0.491000	0.48974	CTG			0.642	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320467.1		NM_004173		T	21385978	G	T	21385978	3	4	60	1	0	0	0	0	1	0	0	0	14722	991	35	3	1799	3	SLC7A4	22	21385978	Missense_Mutation	SNP	G	TCGA-2G-AAKM-01A-11D-A42Y-10		21385978	29918588	50	4346											
SPEN	23013	bcgsc.ca	37	chr1	16199321	16199321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttccagatatggccgcGtggaaagtgtcaaaattctt	10	15	9	7	2	2	1	1	0	1	1	3	2	3	2	2	2	0	0	2	2	4	6			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr1:16199321G>T	ENST00000375759.3	+	2	298	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	32	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATATGGCCGCGTGGAAAGTGT	0.383																																					p.V32L													SPEN,NS,carcinoma,0,1	SPEN	374	1	0			c.G94T												63	68	66					1																	16199321		2203	4300	6503	SO:0001583	missense	23013	exon2			GGCCGCGTGGAAA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.94G>T	1.37:g.16199321G>T	ENSP00000364912:p.Val32Leu		52	0	0		55	0	0	NM_015001	74	0	0	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659723	0.47572	.	.	ENSG00000065526	ENST00000375759	T	0.20598	2.06	5.58	5.58	0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.43322	0.1242	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21381	-1.0247	9	0.72032	D	0.01	-1.6403	19.5632	0.95380	0.0:0.0:1.0:0.0	.	32	Q96T58	MINT_HUMAN	L	32	ENSP00000364912:V32L	ENSP00000364912:V32L	V	+	1	0	SPEN	16071908	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.476000	0.97823	2.636000	0.89361	0.557000	0.71058	GTG			0.383	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025993.1		NM_015001		T	16199321	G	T	16199321	3	4	61	1	0	0	0	0	1	0	0	0	15061	1145	40	1	100	1	SPEN	1	16199321	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		16199321	233051300	1	4347											
SPEN	23013	mdanderson.org	37	chr1	16258924	16258924	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accgcccctgttgaagttgtAgagaaaaaaccggcccctga	12	7	10	12	2	0	3	0	2	0	1	0	4	0	3	6	1	1	3	6	1	5	3			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr1:16258924A>G	ENST00000375759.3	+	11	6393	c.6189A>G	c.(6187-6189)gtA>gtG	p.V2063V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2063					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGAAGTTGTAGAGAAAAAAC	0.483																																					p.V2063V													.	.			0			c.A6189G												46	56	53					1																	16258924		2172	4277	6449	SO:0001819	synonymous_variant	23013	exon11			AGTTGTAGAGAAA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6189A>G	1.37:g.16258924A>G			88	0	0		59	0.05	3	NM_015001	255	0	0	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																					0.483	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025993.1		NM_015001		G	16258924	A	G	16258924	2	3	61	1	0	0	0	0	0	0	0	1	15061	407	15	4		4	SPEN	1	16258924	Silent	SNP	A	TCGA-2G-AAKO-01A-11D-A42Y-10	59603	16258924	232991697	2	4348											
ECE1	1889	mdanderson.org	37	chr1	21560084	21560084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctttcctgagctgatcgGcagtgaccctccatgagaag	8	9	13	11	1	0	4	0	4	0	1	3	5	2	4	3	2	1	3	3	2	1	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr1:21560084G>A	ENST00000374893.6	-	14	1711	c.1637C>T	c.(1636-1638)gCc>gTc	p.A546V	ECE1_ENST00000415912.2_Missense_Mutation_p.A530V|ECE1_ENST00000436918.2_Missense_Mutation_p.A546V|ECE1_ENST00000357071.4_Missense_Mutation_p.A534V|ECE1_ENST00000264205.6_Missense_Mutation_p.A543V	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	546					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)		GAGCTGATCGGCAGTGACCCT	0.542																																					p.A546V													.	.			0			c.C1637T												59	63	62					1																	21560084		2203	4300	6503	SO:0001583	missense	1889	exon14			TGATCGGCAGTGA	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.1637C>T	1.37:g.21560084G>A	ENSP00000364028:p.Ala546Val		51	0	0		59	0.07	4	NM_001397	119	0	0	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733330	0.69189	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49	5.36	5.36	0.76844	.	0.106321	0.64402	D	0.000006	D	0.84543	0.5495	L	0.57536	1.79	0.80722	D	1	B;D;B;D;D	0.60575	0.004;0.98;0.015;0.988;0.988	B;P;B;P;P	0.53722	0.008;0.546;0.009;0.733;0.733	D	0.84790	0.0778	10	0.46703	T	0.11	-26.039	17.6527	0.88169	0.0:0.0:1.0:0.0	.	546;530;546;534;543	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	V	530;534;546;546;543	ENSP00000405088:A530V;ENSP00000349581:A534V;ENSP00000364028:A546V;ENSP00000388439:A546V;ENSP00000264205:A543V	ENSP00000264205:A543V	A	-	2	0	ECE1	21432671	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.441000	0.97557	2.527000	0.85204	0.655000	0.94253	GCC			0.542	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000007470.2		NM_001397		A	21560084	G	A	21560084	3	1	61	1	0	0	0	0	1	0	0	0	4894	1203	42	2	699	2	ECE1	1	21560084	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	5301160	21560084	227690537	3	4349											
ZMYM4	9202	bcgsc.ca	37	chr1	35836147	35836147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcagctattctgctccaCactgtgcctcactggatata	9	13	6	13	0	3	0	2	0	1	0	4	1	4	1	2	1	4	2	2	1	4	5			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr1:35836147C>T	ENST00000314607.6	+	7	1180	c.1100C>T	c.(1099-1101)aCa>aTa	p.T367I	ZMYM4_ENST00000373297.2_Missense_Mutation_p.T367I|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	367					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)				TTCTGCTCCACACTGTGCCTC	0.473																																					p.T367I													.	ZMYM4	143		0			c.C1100T												99	97	97					1																	35836147		2203	4300	6503	SO:0001583	missense	9202	exon7			GCTCCACACTGTG	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.1100C>T	1.37:g.35836147C>T	ENSP00000322915:p.Thr367Ile		97	0	0		76	0	0	NM_005095	31	0	0	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471841	0.84533	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.46063	0.88;0.88	5.48	5.48	0.80851	TRASH (1);Zinc finger, MYM-type (1);	0.054232	0.64402	D	0.000001	T	0.53722	0.1814	L	0.35854	1.095	0.24985	N	0.991578	P	0.46578	0.88	P	0.60541	0.876	T	0.45659	-0.9246	10	0.28530	T	0.3	-10.9595	19.3456	0.94361	0.0:1.0:0.0:0.0	.	367	Q5VZL5	ZMYM4_HUMAN	I	367	ENSP00000322915:T367I;ENSP00000362394:T367I	ENSP00000322915:T367I	T	+	2	0	ZMYM4	35608734	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.745000	0.74860	2.573000	0.86826	0.591000	0.81541	ACA			0.473	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012207.3		NM_005095		T	35836147	C	T	35836147	3	4	61	1	0	0	0	0	1	0	0	0	17725	478	17	3	1126	3	ZMYM4	1	35836147	Missense_Mutation	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	14276063	35836147	213414474	4	4350											
NRAS	4893	bcgsc.ca	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	7	15	8	11	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	3	5	rs11554290	byFrequency	TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	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)																											p.Q61R				Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	NRAS,NS,haematopoietic_neoplasm,-1,2068	NRAS	3766	2068	1016	Substitution - Missense(1016)	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)	c.A182G												180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	TCTTCTTGTCCAG	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		103	0	0		124	0	0	NM_002524	68	0	0	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	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		C	115256529	T	C	115256529	3	2	61	1	0	0	0	0	1	0	0	0	10657	1812	63	4	399	4	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-2G-AAKO-01A-11D-A42Y-10	79420382	115256529	133994092	5	4351											
CR1	1378	broad.mit.edu	37	chr1	207749012	207749012	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattggagcacgaagccGccaatttgtcaacgtgagtt	10	9	11	11	3	1	1	1	1	0	0	1	3	1	2	3	1	3	2	3	1	3	3			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr1:207749012G>A	ENST00000367049.4	+	28	4524	c.4524G>A	c.(4522-4524)ccG>ccA	p.P1508P	CR1_ENST00000367051.1_Silent_p.P1058P|CR1_ENST00000367052.1_Silent_p.P1058P|CR1_ENST00000400960.2_Silent_p.P1058P|CR1_ENST00000367053.1_Silent_p.P1058P|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1058	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCACGAAGCCGCCAATTTGTC	0.448																																					p.P1508P													.	CR1	354		0			c.G4524A												291	281	284					1																	207749012		1899	4129	6028	SO:0001819	synonymous_variant	1378	exon28			GAAGCCGCCAATT	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4524G>A	1.37:g.207749012G>A			287	0	0		286	0.01	4	NM_000651	6	0	0	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																					0.448	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382527.1		NM_000573		A	207749012	G	A	207749012	2	1	61	1	0	0	0	0	0	0	0	1	3842	1074	38	1		1	CR1	1	207749012	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	92492483	207749012	41501609	6	4352											
AGBL5	60509	mdanderson.org	37	chr2	27291584	27291584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgctagggactggagctcGgatgccctgcatcaagactc	8	9	12	12	1	2	1	1	0	1	1	4	4	2	4	1	3	4	3	1	3	2	1	rs145155050		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr2:27291584G>T	ENST00000360131.4	+	13	2486	c.2327G>T	c.(2326-2328)cGg>cTg	p.R776L		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	776					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGAGCTCGGATGCCCTGC	0.532																																					p.R776L													.	.			0			c.G2327T												88	94	92					2																	27291584		2203	4300	6503	SO:0001583	missense	60509	exon13			GAGCTCGGATGCC	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2327G>T	2.37:g.27291584G>T	ENSP00000353249:p.Arg776Leu		100	0	0		72	0.06	4	NM_021831	30	0	0	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698364	0.68386	.	.	ENSG00000084693	ENST00000360131	T	0.19250	2.16	5.57	3.74	0.42951	.	0.323072	0.28809	N	0.014068	T	0.14056	0.0340	L	0.29908	0.895	0.28764	N	0.90075	P	0.50066	0.931	B	0.41764	0.366	T	0.07578	-1.0765	10	0.48119	T	0.1	-5.1738	6.2946	0.21079	0.0918:0.0:0.7239:0.1843	.	776	Q8NDL9	CBPC5_HUMAN	L	776	ENSP00000353249:R776L	ENSP00000353249:R776L	R	+	2	0	AGBL5	27145088	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.017000	0.29989	1.331000	0.45412	0.555000	0.69702	CGG			0.532	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000309033.1		NM_021831		T	27291584	G	T	27291584	3	4	61	1	0	0	0	0	1	0	0	0	378	1116	39	1	2438	1	AGBL5	2	27291584	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		27291584	215907789	7	4353											
LRP2	4036	mdanderson.org	37	chr2	169997025	169997025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgcatgcacctgcatGgggggggcaggttgataggc	6	8	17	10	1	0	1	0	1	0	0	1	1	1	1	2	6	3	5	2	6	1	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr2:169997025G>T	ENST00000263816.3	-	72	13424	c.13139C>A	c.(13138-13140)cCa>cAa	p.P4380Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4380	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GCACCTGCATGGGGGGGGCAG	0.532																																					p.P4380Q													.	.			0			c.C13139A												56	53	54					2																	169997025		2203	4300	6503	SO:0001583	missense	4036	exon72			CTGCATGGGGGGG		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.13139C>A	2.37:g.169997025G>T	ENSP00000263816:p.Pro4380Gln		45	0	0		43	0.07	3	NM_004525	0		0	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.489879	0.44249	.	.	ENSG00000081479	ENST00000263816	D	0.89123	-2.47	5.95	5.95	0.96441	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.111999	0.64402	D	0.000012	D	0.87042	0.6079	N	0.22421	0.69	0.80722	D	1	D	0.55800	0.973	P	0.53689	0.732	T	0.82924	-0.0216	10	0.11182	T	0.66	.	18.5553	0.91081	0.0:0.0:1.0:0.0	.	4380	P98164	LRP2_HUMAN	Q	4380	ENSP00000263816:P4380Q	ENSP00000263816:P4380Q	P	-	2	0	LRP2	169705271	1.000000	0.71417	0.990000	0.47175	0.164000	0.22412	8.979000	0.93455	2.817000	0.96982	0.563000	0.77884	CCA			0.532	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255231.2		NM_004525		T	169997025	G	T	169997025	3	4	61	1	0	0	0	0	1	0	0	0	8972	1348	47	3	860	3	LRP2	2	169997025	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	142705441	169997025	73202348	8	4354											
SI	6476	bcgsc.ca	37	chr3	164709207	164709207	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccacggacatgtaggtttAttgtgtcataagaagcatta	13	12	9	7	1	1	1	1	0	0	1	1	2	1	2	1	2	1	3	1	2	5	6			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr3:164709207A>T	ENST00000264382.3	-	44	5104	c.5042T>A	c.(5041-5043)aTa>aAa	p.I1681K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1681	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			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)	ATGTAGGTTTATTGTGTCATA	0.398										HNSCC(35;0.089)																											p.I1681K													.	SI	500		0			c.T5042A												146	132	137					3																	164709207		2203	4300	6503	SO:0001583	missense	6476	exon44			AGGTTTATTGTGT	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.5042T>A	3.37:g.164709207A>T	ENSP00000264382:p.Ile1681Lys		135	0	0		147	0	0	NM_001041	0		0	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937457	0.73557	.	.	ENSG00000090402	ENST00000264382	D	0.93366	-3.21	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99113	1.0847	10	0.87932	D	0	.	14.1377	0.65297	1.0:0.0:0.0:0.0	.	1681	P14410	SUIS_HUMAN	K	1681	ENSP00000264382:I1681K	ENSP00000264382:I1681K	I	-	2	0	SI	166191901	1.000000	0.71417	0.987000	0.45799	0.571000	0.35966	8.074000	0.89500	2.003000	0.58678	0.383000	0.25322	ATA			0.398	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350116.1		NM_001041		T	164709207	A	T	164709207	3	4	61	1	0	0	0	0	1	0	0	0	14320	449	16	5	461	5	SI	3	164709207	Missense_Mutation	SNP	A	TCGA-2G-AAKO-01A-11D-A42Y-10		164709207	33313223	9	4355											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	55593603	55593603	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccatgtatgaagtacagTggaaggttgttgaggagata	14	10	13	4	0	0	3	0	2	0	1	0	5	0	4	1	3	2	4	1	3	6	5	rs121913234|rs121913235		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr4:55593603T>G	ENST00000288135.5	+	11	1766	c.1669T>G	c.(1669-1671)Tgg>Ggg	p.W557G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	557			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:15824741, ECO:0000269|PubMed:9438854}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W557_K558del(120)|p.W557R(28)|p.W557G(23)|p.W557_E561del(17)|p.Y553_K558>(8)|p.E554_K558del(8)|p.M552_W557del(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.Q556_V560del(6)|p.Y553_K558del(4)|p.W557del(4)|p.V555_K558del(3)|p.Y553_T574>S(3)|p.Y553_W557del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.W557_K558>E(2)|p.Q556_L576del(2)|p.K550_V559del(2)|p.W557_Q575del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.V555_G565del(1)|p.M552_W557>R(1)|p.Q556_W557del(1)|p.P551_K558del(1)|p.Q556_V559>H(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.W557_K558>S(1)|p.Q556_K558>HPCR(1)|p.E554_I571del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.Q556_N566>SNNLQLY(1)|p.M552_T574>TESA(1)|p.Q556_D572>PS(1)|p.Q556_D572del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.Q556_K558>H(1)|p.Q556_E561>HH(1)|p.W557_I571del(1)|p.Q556_K558>R(1)|p.Q556_W557>R(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.K550_W557del(1)|p.Q556_D572>H(1)|p.W557_V559>I(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAAGTACAGTGGAAGGTTGT	0.388		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.W557G			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,germ_cell_tumour,0,64	KIT	0	64	323	Deletion - In frame(233)|Substitution - Missense(51)|Complex - deletion inframe(34)|Complex - insertion inframe(3)|Deletion - Frameshift(2)	soft_tissue(308)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|genital_tract(1)	c.T1669G	GRCh37	CM005329	KIT	M	rs121913235							80	82	82					4																	55593603		2203	4300	6503	SO:0001583	missense	3815	exon11	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GTACAGTGGAAGG	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1669T>G	4.37:g.55593603T>G	ENSP00000288135:p.Trp557Gly		123	0	0		115	0.1	11	NM_000222	174	0.3	52	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231746	0.79688	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.95622	-3.76;-3.76	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000016	D	0.97974	0.9333	M	0.87617	2.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.981	D	0.98792	1.0736	10	0.87932	D	0	.	16.6003	0.84812	0.0:0.0:0.0:1.0	.	64;553;557	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	G	557;553	ENSP00000288135:W557G;ENSP00000390987:W553G	ENSP00000288135:W557G	W	+	1	0	KIT	55288360	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.880000	0.87243	2.319000	0.78375	0.533000	0.62120	TGG			0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				G	55593603	T	G	55593603	3	3	61	1	0	0	0	0	1	0	0	0	8344	1696	59	4	1711	4	KIT	4	55593603	Missense_Mutation	SNP	T	TCGA-2G-AAKO-01A-11D-A42Y-10		55593603	135560673	10	4356											
DSPP	1834	broad.mit.edu	37	chr4	88536079	88536079	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagcaacagcagtgacagTagcgatagcagtgacagcag	15	4	13	9	1	0	2	0	2	0	0	0	3	0	2	0	0	7	6	0	0	3	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr4:88536079T>C	ENST00000282478.7	+	4	2298	c.2265T>C	c.(2263-2265)agT>agC	p.S755S	DSPP_ENST00000399271.1_Silent_p.S755S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	755	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgacagtagcgatagca	0.522																																					p.S755S													.	DSPP	174		0			c.T2265C																																									SO:0001819	synonymous_variant	1834	exon5			TGACAGTAGCGAT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2265T>C	4.37:g.88536079T>C			78	0.0128205128	1		92	0.11	10	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.522	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		C	88536079	T	C	88536079	2	2	61	1	0	0	0	0	0	0	0	1	4787	1635	57	4		4	DSPP	4	88536079	Silent	SNP	T	TCGA-2G-AAKO-01A-11D-A42Y-10	32942476	88536079	102618197	11	4357											
DCHS2	54798	mdanderson.org	37	chr4	155411422	155411422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccacactcgcaccacgccGctcagctcctccaccgcgaa	8	5	6	22	5	1	0	1	0	0	0	5	1	4	0	6	0	1	3	6	0	1	0			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr4:155411422G>T	ENST00000339452.1	-	1	1446	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	DCHS2_ENST00000456341.2_Missense_Mutation_p.S355R|DCHS2_ENST00000443500.1_Missense_Mutation_p.S362R	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1531	Cadherin 2. {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)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCACCACGCCGCTCAGCTCCT	0.726																																					p.S362R													.	.			0			c.C1086A												7	10	9					4																	155411422		687	1575	2262	SO:0001583	missense	54798	exon1			CACGCCGCTCAGC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1086C>A	4.37:g.155411422G>T	ENSP00000345062:p.Ser362Arg		62	0	0		36	0.08	3	NM_001142552	0		0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000339452.1	37	CCDS47150.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321586	0.23994	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.53857	0.6;0.6;0.6	4.7	1.94	0.25998	.	.	.	.	.	T	0.66366	0.2782	M	0.70787	2.145	0.36679	D	0.878946	D;D	0.89917	0.999;1.0	D;D	0.83275	0.964;0.996	T	0.67883	-0.5555	9	0.59425	D	0.04	.	7.6783	0.28499	0.2916:0.1162:0.5922:0.0	.	362;362	E9PG03;E9PC11	.;.	R	362;362;355;362	ENSP00000345062:S362R;ENSP00000408543:S355R;ENSP00000395539:S362R	ENSP00000345062:S362R	S	-	3	2	DCHS2	155630872	0.041000	0.20044	1.000000	0.80357	0.163000	0.22366	-0.493000	0.06459	0.163000	0.19507	-1.134000	0.01955	AGC			0.726	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000365282.1		NM_001142552		T	155411422	G	T	155411422	3	4	61	1	0	0	0	0	1	0	0	0	4290	1078	38	1	9998	1	DCHS2	4	155411422	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	66875343	155411422	35742854	12	4358											
MORF4	10934	bcgsc.ca	37	chr4	174537281	174537281	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatctcaggagatgtggcaCtccatacacctgggacatgg	11	9	11	10	0	1	1	1	0	1	1	3	3	2	2	2	4	1	1	2	4	2	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr4:174537281C>T								RP11-475B2.1 (21574 upstream) : RP11-161D15.2 (280263 downstream)																							AGATGTGGCACTCCATACACC	0.448																																					.													.	.			0			.												158	158	158					4																	174537281		2203	4300	6503	SO:0001628	intergenic_variant	10934	.			GTGGCACTCCATA																													4.37:g.174537281C>T			210	0	0		208	0	0	.	0		0		RNA	SNP		37																																																																																					0	0.448											T	174537281	C	T	174537281	1	4	61	0	1	0	0	0	0	0	0	0	9721	565	20	3		3	MORF4	4	174537281	IGR	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	19125859	174537281	16616995	13	4359											
PLEKHG4B	153478	mdanderson.org	37	chr5	144949	144949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccctccccaggaaagagGtccgggacctggggctggtt	6	9	14	12	1	0	1	0	0	0	1	3	3	3	3	5	6	0	2	5	6	1	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr5:144949G>T	ENST00000283426.6	+	4	801	c.751G>T	c.(751-753)Gtc>Ttc	p.V251F	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	251							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)		CAGGAAAGAGGTCCGGGACCT	0.562																																					p.V251F													.	.			0			c.G751T												52	55	54					5																	144949		2203	4298	6501	SO:0001583	missense	153478	exon4			AAAGAGGTCCGGG	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.751G>T	5.37:g.144949G>T	ENSP00000283426:p.Val251Phe		51	0	0		51	0.08	4	NM_052909	29	0	0		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322506	0.23994	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.32988	1.43;1.43	3.17	1.31	0.21738	.	.	.	.	.	T	0.44871	0.1314	M	0.79693	2.465	0.20703	N	0.999865	D	0.64830	0.994	P	0.59221	0.854	T	0.28870	-1.0030	9	0.48119	T	0.1	.	2.3725	0.04334	0.2817:0.0:0.4772:0.2411	.	251	Q96PX9	PKH4B_HUMAN	F	251;165	ENSP00000283426:V251F;ENSP00000422493:V165F	ENSP00000283426:V251F	V	+	1	0	PLEKHG4B	197949	0.010000	0.17322	0.983000	0.44433	0.194000	0.23727	0.779000	0.26746	0.323000	0.23307	0.313000	0.20887	GTC			0.562	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365359.1		NM_052909		T	144949	G	T	144949	3	4	61	1	0	0	0	0	1	0	0	0	12089	1261	44	3	765	3	PLEKHG4B	5	144949	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		144949	180770311	14	4360											
MBOAT1	154141	mdanderson.org	37	chr6	20151480	20151480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaacaccagcacaaaaaGatgcacagagtacctttaag	18	7	6	10	0	0	2	0	0	0	2	0	2	0	2	2	0	4	3	2	0	5	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr6:20151480G>T	ENST00000324607.7	-	3	423	c.259C>A	c.(259-261)Ctt>Att	p.L87I	MBOAT1_ENST00000541730.1_5'UTR|MBOAT1_ENST00000536798.1_Missense_Mutation_p.L87I	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	87					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGCACAAAAAGATGCACAGAG	0.378																																					p.L87I													.	.			0			c.C259A												146	127	133					6																	20151480		2203	4300	6503	SO:0001583	missense	154141	exon3			CAAAAAGATGCAC	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.259C>A	6.37:g.20151480G>T	ENSP00000324944:p.Leu87Ile		34	0	0		43	0.07	3	NM_001080480	15	0	0	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	G	8.863	0.947498	0.18356	.	.	ENSG00000172197	ENST00000324607;ENST00000536798	T;T	0.26373	2.62;1.74	5.69	4.76	0.60689	.	0.174595	0.47852	D	0.000220	T	0.06735	0.0172	N	0.17872	0.535	0.43874	D	0.996485	B	0.13145	0.007	B	0.12837	0.008	T	0.16217	-1.0410	10	0.14252	T	0.57	-16.8067	11.4923	0.50387	0.0:0.0:0.6754:0.3246	.	87	Q6ZNC8	MBOA1_HUMAN	I	87	ENSP00000324944:L87I;ENSP00000439814:L87I	ENSP00000324944:L87I	L	-	1	0	MBOAT1	20259459	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	2.913000	0.48790	2.661000	0.90470	0.650000	0.86243	CTT			0.378	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039980.1				T	20151480	G	T	20151480	3	4	61	1	0	0	0	0	1	0	0	0	9372	942	33	3	1272	3	MBOAT1	6	20151480	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		20151480	150963587	15	4361											
COL11A2	1302	mdanderson.org	37	chr6	33133977	33133977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggctcctttggggccagCaggtccctgtgaaatgagga	7	11	14	9	0	0	2	0	2	0	0	2	3	2	3	3	5	1	2	3	5	1	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr6:33133977C>T	ENST00000374708.4	-	59	4399	c.4141G>A	c.(4141-4143)Gct>Act	p.A1381T	COL11A2_ENST00000341947.2_Missense_Mutation_p.A1467T|COL11A2_ENST00000374712.1_Missense_Mutation_p.A1386T|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.A1407T|COL11A2_ENST00000374713.1_Missense_Mutation_p.A1420T|COL11A2_ENST00000361917.1_Missense_Mutation_p.A1360T|COL11A2_ENST00000374714.1_Missense_Mutation_p.A1441T|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1446T	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1467	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						TTGGGGCCAGCAGGTCCCTGT	0.577																																					p.A1467T	Melanoma(1;90 116 3946 5341 17093)												.	.			0			c.G4399A												22	21	21					6																	33133977		2203	4300	6503	SO:0001583	missense	1302	exon61			GGCCAGCAGGTCC	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.4141G>A	6.37:g.33133977C>T	ENSP00000363840:p.Ala1381Thr		29	0	0		29	0.1	3	NM_080680	1	0	0	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960933	0.34565	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	4.05	3.14	0.36123	.	0.566462	0.17043	N	0.189252	T	0.77143	0.4087	L	0.35414	1.06	0.20975	N	0.999814	B;B;B	0.33413	0.358;0.358;0.411	B;B;B	0.33846	0.107;0.107;0.171	T	0.66404	-0.5932	10	0.17832	T	0.49	.	6.4793	0.22053	0.2183:0.5878:0.194:0.0	.	1360;1381;1467	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	T	1381;1467;1446;1441;1420;1407;1386;1360	ENSP00000363840:A1381T;ENSP00000339915:A1467T;ENSP00000350079:A1446T;ENSP00000363846:A1441T;ENSP00000363845:A1420T;ENSP00000378623:A1407T;ENSP00000363844:A1386T;ENSP00000355123:A1360T	ENSP00000339915:A1467T	A	-	1	0	COL11A2	33241955	0.236000	0.23804	1.000000	0.80357	0.998000	0.95712	0.736000	0.26130	0.845000	0.35118	0.551000	0.68910	GCT			0.577	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000076032.2				T	33133977	C	T	33133977	3	4	61	1	0	0	0	0	1	0	0	0	3670	710	25	2	835	2	COL11A2	6	33133977	Missense_Mutation	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	12982497	33133977	137981090	16	4362											
BAK1	578	mdanderson.org	37	chr6	33543581	33543581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagctcacctgctaggttgCagaggtaaggtgaccatctc	9	10	12	10	0	2	2	1	1	1	1	3	2	2	2	2	3	3	6	2	3	3	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr6:33543581C>T	ENST00000374467.3	-	3	443	c.195G>A	c.(193-195)ctG>ctA	p.L65L	BAK1_ENST00000360661.5_Silent_p.L65L|BAK1_ENST00000442998.2_Silent_p.L65L	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	65					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						TGCTAGGTTGCAGAGGTAAGG	0.602																																					p.L65L													.	.			0			c.G195A												84	76	79					6																	33543581		2203	4300	6503	SO:0001819	synonymous_variant	578	exon3			AGGTTGCAGAGGT	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.195G>A	6.37:g.33543581C>T			53	0	0		39	0.08	3	NM_001188	55	0	0	C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	C	2.764	-0.257219	0.05791	.	.	ENSG00000030110	ENST00000374460	.	.	.	3.96	-7.92	0.01160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7329	0.46107	0.0:0.6044:0.1302:0.2654	.	.	.	.	.	-1	.	.	.	-	.	.	BAK1	33651559	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.748000	0.00794	-1.715000	0.01389	-1.270000	0.01421	.			0.602	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040202.1		NM_001188		T	33543581	C	T	33543581	2	4	61	1	0	0	0	0	0	0	0	1	1305	697	25	2		2	BAK1	6	33543581	Silent	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	409604	33543581	137571486	17	4363											
KLC4	89953	broad.mit.edu	37	chr6	43039101	43039101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcccatgtacaggagtttgGgtctgtggatggtgagtggt	6	13	17	5	0	1	1	0	1	1	0	1	3	1	3	1	5	2	2	1	5	1	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr6:43039101G>T	ENST00000394056.2	+	10	1739	c.1244G>T	c.(1243-1245)gGg>gTg	p.G415V	KLC4_ENST00000479388.1_Missense_Mutation_p.G415V|KLC4_ENST00000453940.2_Missense_Mutation_p.G338V|KLC4_ENST00000394058.1_Missense_Mutation_p.G415V|KLC4_ENST00000347162.5_Missense_Mutation_p.G415V|KLC4_ENST00000259708.3_Missense_Mutation_p.G433V|RP11-387M24.5_ENST00000606123.1_RNA			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	415						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CAGGAGTTTGGGTCTGTGGAT	0.552																																					p.G433V													.	KLC4	89		0			c.G1298T												77	78	78					6																	43039101		2203	4300	6503	SO:0001583	missense	89953	exon9			AGTTTGGGTCTGT	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1244G>T	6.37:g.43039101G>T	ENSP00000377620:p.Gly415Val		154	0	0		155	0.03	4	NM_201523	22	0	0	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336612	0.81801	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.81247	-1.46;1.28;-1.47;-1.46;-1.46;-1.46	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000005	D	0.89139	0.6630	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.96;0.912	D	0.89350	0.3660	10	0.56958	D	0.05	-13.5181	15.6839	0.77393	0.0:0.1372:0.8627:0.0	.	338;433;415	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	V	415;338;433;415;415;415	ENSP00000340221:G415V;ENSP00000395806:G338V;ENSP00000259708:G433V;ENSP00000418031:G415V;ENSP00000377620:G415V;ENSP00000377622:G415V	ENSP00000259708:G433V	G	+	2	0	KLC4	43147079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.610000	0.82949	2.810000	0.96702	0.650000	0.86243	GGG			0.552	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040579.2		NM_138343		T	43039101	G	T	43039101	3	4	61	1	0	0	0	0	1	0	0	0	8351	1232	43	3	1401	3	KLC4	6	43039101	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	9495520	43039101	128075966	18	4364											
C6orf70	55780	hgsc.bcm.edu;mdanderson.org	37	chr6	170175417	170175417	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgctgcctttccccGaagaactcactcggcaagcc	7	8	10	16	2	2	1	1	0	1	1	4	2	3	1	4	2	4	3	4	2	3	1	rs376417698		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr6:170175417G>T	ENST00000366773.3	+	14	1402	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E331*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E457*|ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E457*|ERMARD_ENST00000588451.1_Nonsense_Mutation_p.E321*	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	457					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GCCTTTCCCCGAAGAACTCAC	0.498																																					p.E457X													C6orf70,NS,carcinoma,0,1	C6orf70	0	1	0			c.G1369T												77	68	71					6																	170175417		2203	4300	6503	SO:0001587	stop_gained	55780	exon14			TTCCCCGAAGAAC	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1369G>T	6.37:g.170175417G>T	ENSP00000355735:p.Glu457*		58	0	0		52	0.06	3	NM_018341	106	0	0	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Nonsense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	34	5.332142	0.95733	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	.	.	.	5.03	2.13	0.27403	.	0.595751	0.15395	N	0.264585	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.0079	0.09610	0.0897:0.1569:0.5915:0.1619	.	.	.	.	X	457;457;457;331;105	.	ENSP00000355733:E105X	E	+	1	0	C6orf70	169917342	0.012000	0.17670	0.000000	0.03702	0.005000	0.04900	0.485000	0.22324	0.091000	0.17302	-0.336000	0.08194	GAA			0.498	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043238.2		NM_018341		T	170175417	G	T	170175417	4	4	61	1	0	0	0	0	0	1	0	0	2372	1059	37	1	1423	1	C6orf70	6	170175417	Nonsense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	127136316	170175417	939650	19	4365											
NT5C3	51251	bcgsc.ca	37	chr7	33102326	33102326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgcggtccatggacggggCcctcatgcgcgtccaagcag	6	5	15	15	6	1	0	1	0	0	0	3	1	3	1	3	4	2	1	3	4	1	0			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr7:33102326C>G	ENST00000242210.7	-	1	83	c.7G>C	c.(7-9)Gcc>Ccc	p.A3P	NT5C3A_ENST00000610140.1_5'UTR	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	3					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										ATGGACGGGGCCCTCATGCGC	0.687																																					p.A3P													.	.			0			c.G7C												7	7	7					7																	33102326		2110	4041	6151	SO:0001583	missense	51251	exon1			ACGGGGCCCTCAT	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"lupin"	606224	"5'-nucleotidase, cytosolic III"	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.7G>C	7.37:g.33102326C>G	ENSP00000242210:p.Ala3Pro		107	0	0		126	0.01	1	NM_001002010	7	0	0	A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647470	0.47258	.	.	ENSG00000122643	ENST00000242210	T	0.32272	1.46	4.63	0.709	0.18150	.	1.500820	0.05038	N	0.475778	T	0.15696	0.0378	N	0.08118	0	0.27133	N	0.961846	B	0.02656	0.0	B	0.01281	0.0	T	0.28332	-1.0047	10	0.87932	D	0	.	2.4023	0.04404	0.2921:0.4206:0.1883:0.099	.	3	Q9H0P0	5NT3_HUMAN	P	3	ENSP00000242210:A3P	ENSP00000242210:A3P	A	-	1	0	NT5C3	33068851	0.113000	0.22115	0.008000	0.14137	0.570000	0.35934	2.253000	0.43205	-0.080000	0.12685	0.491000	0.48974	GCC			0.687	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000328880.1		NM_016489		G	33102326	C	G	33102326	3	3	61	1	0	0	0	0	1	0	0	0	10705	739	26	5	1079	5	NT5C3	7	33102326	Missense_Mutation	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10		33102326	126036337	20	4366											
PHTF2	57157	broad.mit.edu	37	chr7	77531162	77531162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgagttgtatttttccccTttttcttccggtggtggtta	3	21	9	8	2	1	0	0	0	1	0	4	1	3	0	3	3	0	3	3	3	2	9			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr7:77531162T>C	ENST00000248550.7	+	6	446	c.370T>C	c.(370-372)Ttt>Ctt	p.F124L	PHTF2_ENST00000307305.8_Missense_Mutation_p.F86L|PHTF2_ENST00000424760.1_Missense_Mutation_p.F86L|PHTF2_ENST00000275575.7_Missense_Mutation_p.F86L|PHTF2_ENST00000422959.2_Missense_Mutation_p.F90L|PHTF2_ENST00000416283.2_Missense_Mutation_p.F90L|PHTF2_ENST00000450574.1_Missense_Mutation_p.F90L|PHTF2_ENST00000415251.2_Missense_Mutation_p.F86L			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ATTTTTCCCCTTTTTCTTCCG	0.373																																					p.F90L													.	PHTF2	104		0			c.T268C												101	93	96					7																	77531162		1819	4082	5901	SO:0001583	missense	57157	exon5			TTCCCCTTTTTCT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.370T>C	7.37:g.77531162T>C	ENSP00000248550:p.Phe124Leu		336	0	0		308	0.02	5	NM_001127359	199	0	0	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	T	13.81	2.347504	0.41599	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.43	5.43	0.79202	Transcription factor homeodomain, male germ-cell (1);	0.114448	0.64402	D	0.000012	T	0.47210	0.1433	N	0.05012	-0.13	0.58432	D	0.999997	P;B;P;D;D;B;D	0.76494	0.852;0.013;0.904;0.998;0.961;0.181;0.999	B;B;P;D;P;B;D	0.72625	0.437;0.038;0.578;0.94;0.689;0.163;0.978	T	0.43376	-0.9395	9	0.02654	T	1	-21.3953	15.7541	0.78011	0.0:0.0:0.0:1.0	.	86;90;124;90;86;86;86	Q8N3S3-4;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;PHTF2_HUMAN;.;.;.;.	L	90;90;86;86;86;86;90;90;124	.	ENSP00000248550:F124L	F	+	1	0	PHTF2	77369098	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.655000	0.83696	2.173000	0.68751	0.482000	0.46254	TTT			0.373	PHTF2-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000340638.2		NM_020432		C	77531162	T	C	77531162	3	2	61	1	0	0	0	0	1	0	0	0	11880	1609	56	4	286	4	PHTF2	7	77531162	Missense_Mutation	SNP	T	TCGA-2G-AAKO-01A-11D-A42Y-10	44428836	77531162	81607501	21	4367											
MUC17	140453	hgsc.bcm.edu	37	chr7	100678918	100678918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacctgtcagcaccacgccGgtagtcagttctgaggctag	9	9	11	12	2	3	1	2	1	1	0	3	1	3	1	3	2	2	4	3	2	3	4	rs200627718|rs71286278	byFrequency	TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr7:100678918G>A	ENST00000306151.4	+	3	4285	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1407	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)					GCACCACGCCGGTAGTCAGTT	0.512																																					p.P1407P													MUC17,colon,carcinoma,+1,1	MUC17	1	1	0			c.G4221A												272	277	276					7																	100678918		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACGCCGGTAGTC	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.4221G>A	7.37:g.100678918G>A			85	0.0117647059	1		86	0.06	5	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			0.002		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		A	100678918	G	A	100678918	2	1	61	1	0	0	0	0	0	0	0	1	9990	1103	39	1		1	MUC17	7	100678918	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	23147756	100678918	58459745	22	4368											
LAMB1	3912	mdanderson.org	37	chr7	107570055	107570055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaatgctgtccaaatcaGcactatcctctgtgaaaagc	12	11	6	12	0	3	1	2	1	1	0	5	1	5	1	2	0	3	2	2	0	5	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr7:107570055G>T	ENST00000222399.6	-	30	4777	c.4547C>A	c.(4546-4548)gCt>gAt	p.A1516D	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1540D|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1516	Domain I.				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						GTCCAAATCAGCACTATCCTC	0.408																																					p.A1516D													.	.			0			c.C4547A												95	82	87					7																	107570055		2203	4300	6503	SO:0001583	missense	3912	exon30			AAATCAGCACTAT	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.4547C>A	7.37:g.107570055G>T	ENSP00000222399:p.Ala1516Asp		89	0	0		89	0.04	4	NM_002291	65	0	0	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263705	0.95399	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.36340	1.26;1.26	5.52	5.52	0.82312	.	.	.	.	.	T	0.64316	0.2587	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.66348	-0.5946	9	0.87932	D	0	.	19.6435	0.95767	0.0:0.0:1.0:0.0	.	1516;1540	P07942;G3XAI2	LAMB1_HUMAN;.	D	1540;1516	ENSP00000377191:A1540D;ENSP00000222399:A1516D	ENSP00000222399:A1516D	A	-	2	0	LAMB1	107357291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.259000	0.95561	2.866000	0.98385	0.650000	0.86243	GCT			0.408	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314584.1		NM_002291		T	107570055	G	T	107570055	3	4	61	1	0	0	0	0	1	0	0	0	8625	971	34	2	833	2	LAMB1	7	107570055	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	6891137	107570055	51568608	23	4369											
SSPO	23145	mdanderson.org	37	chr7	149474940	149474940	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctggacactgtcagCgggtgagggagggagatggg	8	5	19	9	1	1	2	1	1	0	1	1	5	1	4	2	5	2	0	2	5	0	0			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr7:149474940C>T	ENST00000378016.2	+	0	739							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)			ACACTGTCAGCGGGTGAGGGA	0.682																																					p.R247W													.	.			0			c.C739T												14	17	16					7																	149474940		1975	4136	6111			23145	exon5			TGTCAGCGGGTGA	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.149474940C>T			30	0	0		20	0.1	2	NM_198455	0		0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						T	149474940	C	T	149474940	1	4	61	0	1	0	0	0	0	0	0	0	15212	759	27	1		1	SSPO	7	149474940	RNA	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	41904885	149474940	9663723	24	4370											
KCNH2	3757	hgsc.bcm.edu	37	chr7	150671831	150671831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggcgatttccactttgCgctcctcggcgcccagcagt	7	9	11	14	4	0	1	0	0	0	1	3	2	2	1	3	2	2	2	3	2	1	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr7:150671831C>T	ENST00000262186.5	-	2	676	c.275G>A	c.(274-276)cGc>cAc	p.R92H	KCNH2_ENST00000430723.3_Missense_Mutation_p.R92H	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	92	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)			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)	TTCCACTTTGCGCTCCTCGGC	0.726																																					p.R92H	GBM(137;110 1844 13671 20123 45161)												.	.			0			c.G275A												9	10	10					7																	150671831		2175	4224	6399	SO:0001583	missense	3757	exon2			ACTTTGCGCTCCT	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.275G>A	7.37:g.150671831C>T	ENSP00000262186:p.Arg92His		123	0	0		121	0.04	5	NM_000238	17	0	0	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657651	0.88154	.	.	ENSG00000055118	ENST00000262186;ENST00000430723	D;D	0.99563	-6.17;-6.17	4.38	3.49	0.39957	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.091297	0.39615	N	0.001319	D	0.99052	0.9675	L	0.39147	1.195	0.42596	D	0.993268	D;P	0.89917	1.0;0.953	P;P	0.61477	0.889;0.881	D	0.98570	1.0645	10	0.46703	T	0.11	.	11.9938	0.53189	0.0:0.8233:0.1767:0.0	.	92;92	G5E9I0;Q12809	.;KCNH2_HUMAN	H	92	ENSP00000262186:R92H;ENSP00000387657:R92H	ENSP00000262186:R92H	R	-	2	0	KCNH2	150302764	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	3.161000	0.50747	0.811000	0.34303	0.297000	0.19635	CGC			0.726	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350741.2		NM_000238		T	150671831	C	T	150671831	3	4	61	1	0	0	0	0	1	0	0	0	8047	768	27	1	3641	1	KCNH2	7	150671831	Missense_Mutation	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	1196891	150671831	8466832	25	4371											
ACCN3	9311	broad.mit.edu	37	chr7	150746098	150746098	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcctgagcctgcgccgGgggatgtgggcagcggccgt	4	5	20	12	4	0	1	0	1	0	0	0	2	0	2	4	5	4	2	4	5	0	0	rs555665814		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr7:150746098G>T	ENST00000349064.5	+	1	324	c.126G>T	c.(124-126)cgG>cgT	p.R42R	ASIC3_ENST00000297512.8_Silent_p.R42R|ASIC3_ENST00000357922.4_Silent_p.R42R	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	42					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										GCCTGCGCCGGGGGATGTGGG	0.692																																					p.R42R													.	.			0			c.G126T												42	43	43					7																	150746098		2203	4299	6502	SO:0001819	synonymous_variant	9311	exon1			GCGCCGGGGGATG	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.126G>T	7.37:g.150746098G>T			98	0	0		68	0.04	3	NM_020322	41	0	0	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	CCDS5916.1																																																																																					0.692	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351725.1		NM_004769		T	150746098	G	T	150746098	2	4	61	1	0	0	0	0	0	0	0	1	130	1219	43	3		3	ACCN3	7	150746098	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	74267	150746098	8392565	26	4372											
ERICH1	157697	bcgsc.ca	37	chr8	623373	623373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtaattgtatcatcttcctCgctggcgtctgcaccgtcct	5	14	9	13	3	3	0	1	0	2	0	6	0	5	0	3	2	1	4	3	2	2	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr8:623373C>T	ENST00000262109.7	-	4	1056	c.979G>A	c.(979-981)Gag>Aag	p.E327K	ERICH1_ENST00000522706.1_Missense_Mutation_p.E233K|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	327	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCATCTTCCTCGCTGGCGTCT	0.502																																					p.E327K													ERICH1,NS,carcinoma,+1,1	ERICH1	50	1	0			c.G979A												154	159	157					8																	623373		2203	4300	6503	SO:0001583	missense	157697	exon4			CTTCCTCGCTGGC		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.979G>A	8.37:g.623373C>T	ENSP00000262109:p.Glu327Lys		134	0	0		115	0	0	NM_207332	64	0	0	A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	C	9.333	1.061088	0.19987	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.34859	1.34;1.37	4.18	1.34	0.21922	.	0.606585	0.15774	N	0.245313	T	0.18215	0.0437	N	0.12182	0.205	0.20196	N	0.99992	B;B;B	0.21452	0.056;0.056;0.056	B;B;B	0.20384	0.029;0.018;0.02	T	0.21552	-1.0242	10	0.25751	T	0.34	-12.1972	8.0641	0.30651	0.0:0.5362:0.3689:0.0948	.	327;327;233	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	K	327;233;327	ENSP00000428635:E233K;ENSP00000262109:E327K	ENSP00000262109:E327K	E	-	1	0	ERICH1	613373	0.910000	0.30920	0.145000	0.22337	0.009000	0.06853	2.883000	0.48554	0.283000	0.22279	-0.122000	0.15005	GAG			0.502	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251228.3		NM_207332		T	623373	C	T	623373	3	4	61	1	0	0	0	0	1	0	0	0	5237	893	31	1	364	1	ERICH1	8	623373	Missense_Mutation	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10		623373	145740649	27	4373											
CHRNA2	1135	mdanderson.org	37	chr8	27327404	27327404	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagccggtcctcagtctcGgtatgcgagcctccctgcgg	6	8	13	14	4	2	1	1	0	1	1	5	2	4	1	4	3	4	1	4	3	2	1	rs200729883		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr8:27327404G>T	ENST00000520933.2	-	2	321	c.168C>A	c.(166-168)acC>acA	p.T56T	CHRNA2_ENST00000407991.1_Silent_p.T56T|CHRNA2_ENST00000240132.2_Silent_p.T56T			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	56					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)	CCTCAGTCTCGGTATGCGAGC	0.642																																					p.T56T													.	.			0			c.C168A												60	64	62					8																	27327404		2203	4300	6503	SO:0001819	synonymous_variant	1135	exon3			AGTCTCGGTATGC	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.168C>A	8.37:g.27327404G>T			70	0	0		73	0.07	5	NM_000742	0		0	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Silent	SNP	ENST00000520933.2	37	CCDS6059.1																																																																																					0.642	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376125.4				T	27327404	G	T	27327404	2	4	61	1	0	0	0	0	0	0	0	1	3385	1103	39	1		1	CHRNA2	8	27327404	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	26704031	27327404	119036618	28	4374											
PURG	29942	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr8	30889696	30889696	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccagtcccccgcatcatGgtttgtctaatccgtaggaa	9	11	9	12	2	2	0	1	0	1	0	4	1	4	1	4	2	1	3	4	2	3	3			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr8:30889696G>T	ENST00000475541.1	-	1	1535	c.603C>A	c.(601-603)acC>acA	p.T201T	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.T201T	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	201						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCCGCATCATGGTTTGTCTAA	0.458																																					p.T201T													PURG_ENST00000475541,colon,carcinoma,-2,2	PURG_ENST00000475541	-2	2	0			c.C603A												92	87	89					8																	30889696		2203	4300	6503	SO:0001819	synonymous_variant	29942	exon1			CATCATGGTTTGT	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.603C>A	8.37:g.30889696G>T			117	0	0		114	0.07	8	NM_013357	0		0	Q8TE64	Silent	SNP	ENST00000475541.1	37	CCDS6081.1																																																																																					0.458	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348565.1		NM_013357		T	30889696	G	T	30889696	2	4	61	1	0	0	0	0	0	0	0	1	12852	1335	47	3		3	PURG	8	30889696	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	3562292	30889696	115474326	29	4375											
GDAP1	54332	bcgsc.ca	37	chr8	75262792	75262792	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcattctgtaccattggacGcattcgttcagctctcaaaa	10	13	6	12	2	4	0	3	0	2	0	6	1	4	1	1	1	2	4	1	1	3	5			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr8:75262792G>T	ENST00000220822.7	+	1	176	c.96G>T	c.(94-96)acG>acT	p.T32T	CTD-2320G14.2_ENST00000521872.1_RNA|GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	32	GST N-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			ACCATTGGACGCATTCGTTCA	0.622																																					p.T32T													.	GDAP1	36		0			c.G96T												59	61	60					8																	75262792		2203	4300	6503	SO:0001819	synonymous_variant	54332	exon1			TTGGACGCATTCG		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"Charcot-Marie-Tooth neuropathy 4A"	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.96G>T	8.37:g.75262792G>T			60	0	0		41	0	0	NM_018972	8	0	0	A8K957|E7FJF3|E7FJF4	Silent	SNP	ENST00000220822.7	37	CCDS34911.1																																																																																					0.622	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379061.1		NM_018972		T	75262792	G	T	75262792	2	4	61	1	0	0	0	0	0	0	0	1	6321	1074	38	1		1	GDAP1	8	75262792	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	44373096	75262792	71101230	30	4376											
DNM1	1759	mdanderson.org	37	chr9	130996383	130996383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagggccgcactaaggaGcaggtgagccccgcagcacc	9	2	15	15	4	0	1	0	1	0	0	0	3	0	2	4	3	3	4	4	3	1	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr9:130996383G>T	ENST00000372923.3	+	11	1511	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D	DNM1_ENST00000486160.1_Missense_Mutation_p.E473D|DNM1_ENST00000341179.7_Missense_Mutation_p.E473D|DNM1_ENST00000393594.3_Missense_Mutation_p.E473D|DNM1_ENST00000475805.1_Missense_Mutation_p.E473D	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	473					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						GCACTAAGGAGCAGGTGAGCC	0.682																																					.	GBM(113;146 1575 2722 28670 29921)												.	.			0			.												16	15	16					9																	130996383		2167	4254	6421	SO:0001583	missense	1759	.			TAAGGAGCAGGTG	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.1419G>T	9.37:g.130996383G>T	ENSP00000362014:p.Glu473Asp		48	0	0		48	0.06	3	.	24	0	0	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	5.487	0.274838	0.10403	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.0	0.711	0.18162	Dynamin central domain (1);Pleckstrin homology-type (1);	0.436255	0.23920	N	0.043242	T	0.41789	0.1174	N	0.05510	-0.035	0.40025	D	0.975451	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.36672	-0.9738	10	0.02654	T	1	-5.3746	3.1313	0.06424	0.183:0.4562:0.2404:0.1204	.	473;473;473	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	D	473;473;473;468;473;473;18	ENSP00000419225:E473D;ENSP00000345680:E473D;ENSP00000362014:E473D;ENSP00000377219:E473D;ENSP00000420045:E473D	ENSP00000345680:E473D	E	+	3	2	DNM1	130036204	0.989000	0.36119	1.000000	0.80357	0.955000	0.61496	0.220000	0.17660	0.131000	0.18576	0.455000	0.32223	GAG			0.682	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054367.1		NM_004408		T	130996383	G	T	130996383	3	4	61	1	0	0	0	0	1	0	0	0	4675	962	34	2	1461	2	DNM1	9	130996383	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		130996383	10217048	31	4377											
ARMC3	219681	bcgsc.ca	37	chr10	23290962	23290962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctggtgacgagctgacgGccaatgaattatgcaggctc	9	9	14	9	2	0	3	0	3	0	0	1	4	0	3	1	3	3	4	1	3	3	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr10:23290962G>A	ENST00000298032.5	+	12	1624	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	ARMC3_ENST00000409983.3_Missense_Mutation_p.A514T|ARMC3_ENST00000376528.4_Missense_Mutation_p.A251T|ARMC3_ENST00000409049.3_Missense_Mutation_p.A514T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	514						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						CGAGCTGACGGCCAATGAATT	0.542																																					p.A514T													.	ARMC3	102		0			c.G1540A												107	90	96					10																	23290962		2203	4300	6503	SO:0001583	missense	219681	exon12			CTGACGGCCAATG	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.1540G>A	10.37:g.23290962G>A	ENSP00000298032:p.Ala514Thr		113	0	0		109	0	0	NM_173081	2	0	0	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033024	0.75504	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.64438	-0.1;-0.1;0.95;0.69	5.91	2.9	0.33743	Armadillo-like helical (1);	0.207206	0.49916	D	0.000122	T	0.76550	0.4003	M	0.80746	2.51	0.37084	D	0.899142	D;D	0.67145	0.996;0.978	D;P	0.74348	0.983;0.737	T	0.80752	-0.1242	10	0.87932	D	0	-4.6801	9.8379	0.40980	0.0651:0.0:0.6846:0.2503	.	514;514	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	514;514;450;514;251	ENSP00000298032:A514T;ENSP00000386943:A514T;ENSP00000387288:A514T;ENSP00000365711:A251T	ENSP00000298032:A514T	A	+	1	0	ARMC3	23330968	1.000000	0.71417	0.005000	0.12908	0.047000	0.14425	4.007000	0.57093	0.799000	0.34018	0.655000	0.94253	GCC			0.542	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047197.2		NM_173081		A	23290962	G	A	23290962	3	1	61	1	0	0	0	0	1	0	0	0	952	1203	42	2	1582	2	ARMC3	10	23290962	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		23290962	112243785	32	4378											
UNC5B	219699	mdanderson.org	37	chr10	73056412	73056412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctggagaggcacagcttGgcctccacagagctcacctg	9	6	11	15	0	1	2	1	0	0	2	2	3	2	2	4	3	2	3	4	3	0	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr10:73056412G>T	ENST00000335350.6	+	15	2819	c.2403G>T	c.(2401-2403)ttG>ttT	p.L801F	UNC5B_ENST00000373192.4_Missense_Mutation_p.L790F	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	801	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						GGCACAGCTTGGCCTCCACAG	0.597																																					p.L801F													.	.			0			c.G2403T												75	65	69					10																	73056412		2203	4300	6503	SO:0001583	missense	219699	exon15			CAGCTTGGCCTCC	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.2403G>T	10.37:g.73056412G>T	ENSP00000334329:p.Leu801Phe		67	0	0		41	0.07	3	NM_170744	2	0	0	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610766	0.46527	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51325	0.76;0.71	5.23	1.06	0.20224	.	0.090906	0.46758	D	0.000276	T	0.51227	0.1662	M	0.66939	2.045	0.52501	D	0.999951	D;D	0.63046	0.988;0.992	P;P	0.52598	0.703;0.625	T	0.49615	-0.8921	10	0.56958	D	0.05	-14.1075	7.5484	0.27781	0.2051:0.1182:0.6767:0.0	.	790;801	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	F	801;790	ENSP00000334329:L801F;ENSP00000362288:L790F	ENSP00000334329:L801F	L	+	3	2	UNC5B	72726418	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.394000	0.52551	0.176000	0.19873	0.561000	0.74099	TTG			0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048541.1		NM_170744		T	73056412	G	T	73056412	3	4	61	1	0	0	0	0	1	0	0	0	17016	1339	47	3	2461	3	UNC5B	10	73056412	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	49765450	73056412	62478335	33	4379											
SMC3	9126	bcgsc.ca	37	chr10	112361739	112361739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatagttgtttcgaaaacttGagcagtgcaacacagaatta	15	12	8	6	1	0	2	0	1	0	1	1	3	0	2	0	0	4	4	0	0	7	6			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr10:112361739G>C	ENST00000361804.4	+	25	3034	c.2908G>C	c.(2908-2910)Gag>Cag	p.E970Q		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	970					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)		TCGAAAACTTGAGCAGTGCAA	0.299																																					p.E970Q													.	SMC3	103		0			c.G2908C												40	42	41					10																	112361739		2200	4297	6497	SO:0001583	missense	9126	exon25			AAACTTGAGCAGT	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.2908G>C	10.37:g.112361739G>C	ENSP00000354720:p.Glu970Gln		140	0	0		144	0	0	NM_005445	483	0	1	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850234	0.71719	.	.	ENSG00000108055	ENST00000361804	T	0.75821	-0.97	5.56	5.56	0.83823	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.80270	0.4592	L	0.58101	1.795	0.80722	D	1	P	0.49862	0.929	P	0.52957	0.714	T	0.76008	-0.3116	10	0.27785	T	0.31	.	19.8984	0.96975	0.0:0.0:1.0:0.0	.	970	Q9UQE7	SMC3_HUMAN	Q	970	ENSP00000354720:E970Q	ENSP00000354720:E970Q	E	+	1	0	SMC3	112351729	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.967000	0.93402	2.780000	0.95670	0.585000	0.79938	GAG			0.299	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050337.1		NM_005445		C	112361739	G	C	112361739	3	2	61	1	0	0	0	0	1	0	0	0	14807	1291	45	5	3006	5	SMC3	10	112361739	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	39305327	112361739	23173008	34	4380											
MTG1	92170	mdanderson.org	37	chr10	135207793	135207793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggagaacttccccctgtgCggtcgcgacgtggcgcgctg	4	7	16	14	7	0	1	0	0	0	1	2	3	1	1	2	3	2	1	2	3	1	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr10:135207793C>T	ENST00000317502.6	+	1	119	c.69C>T	c.(67-69)tgC>tgT	p.C23C	RP11-108K14.8_ENST00000468317.2_Intron|MTG1_ENST00000477902.2_Intron	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	23					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		TCCCCCTGTGCGGTCGCGACG	0.741																																					p.C23C													.	.			0			c.C69T												5	6	6					10																	135207793		1809	3459	5268	SO:0001819	synonymous_variant	92170	exon1			CCTGTGCGGTCGC		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.69C>T	10.37:g.135207793C>T			12	0	0		14	0.14	2	NM_138384	72	0	0	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Silent	SNP	ENST00000317502.6	37	CCDS31320.1																																																																																					0.741	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051166.1		NM_138384		T	135207793	C	T	135207793	2	4	61	1	0	0	0	0	0	0	0	1	9942	776	27	1		1	MTG1	10	135207793	Silent	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	22846054	135207793	326954	35	4381											
KRTAP5-5	439915	mdanderson.org	37	chr11	1651442	1651442	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgtggctcctgtgggggGtccaaggggggctgtggctc	2	9	21	9	0	0	0	0	0	0	0	3	0	2	0	2	9	0	4	2	9	1	0			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr11:1651442G>C	ENST00000399676.2	+	1	410	c.372G>C	c.(370-372)ggG>ggC	p.G124G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	124	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G124G(2)		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)		CCTGTGGGGGGTCCAAGGGGG	0.692																																					p.G124G													KRTAP5-5,bladder,carcinoma,0,4	KRTAP5-5	0	4	2	Substitution - coding silent(2)	prostate(2)	c.G372C																																									SO:0001819	synonymous_variant	439915	exon1			TGGGGGGTCCAAG	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.372G>C	11.37:g.1651442G>C			48	0.0833333333	4		35	0.11	4	NM_001001480	0		0	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																					0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127919.1				C	1651442	G	C	1651442	2	2	61	1	0	0	0	0	0	0	0	1	8579	1248	44	5		5	KRTAP5-5	11	1651442	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		1651442	133355074	36	4382											
FOLH1	2346	bcgsc.ca	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				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)	GCCTATAAGCATATTCTGAAA	0.343																																					p.Y277Y													.	FOLH1	141		0			c.T831C												61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346	exon7			ATAAGCATATTCT	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.831T>C	11.37:g.49204790A>G			182	0.010989011	2		153	0.05	8	NM_004476	0		0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																					0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390896.1		NM_004476		G	49204790	A	G	49204790	2	3	61	1	0	0	0	0	0	0	0	1	5992	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-2G-AAKO-01A-11D-A42Y-10	47553348	49204790	85801726	37	4383											
NCAM1	4684	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	113076296	113076296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggagttccgggagggggAagatgccgtgattgtgtgtg	8	9	19	5	2	0	2	0	1	0	1	1	5	1	5	2	4	1	1	2	4	1	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr11:113076296A>G	ENST00000533760.1	+	4	643	c.44A>G	c.(43-45)gAa>gGa	p.E15G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.E123G|NCAM1_ENST00000401611.2_Missense_Mutation_p.E132G	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	133					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CGGGAGGGGGAAGATGCCGTG	0.507																																					p.E133G													.	.			0			c.A398G												123	124	123					11																	113076296		2001	4150	6151	SO:0001583	missense	4684	exon5			AGGGGGAAGATGC		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.44A>G	11.37:g.113076296A>G	ENSP00000473281:p.Glu15Gly		137	0	0		115	0.04	5	NM_001242608	3	0	0	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.	.	.	.	.	.	.	.	.	.	A	19.52	3.843543	0.71488	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.41758	0.99;0.99	5.73	4.6	0.57074	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.147481	0.64402	N	0.000005	T	0.47060	0.1425	.	.	.	0.80722	D	1	P;P;P;P;D	0.53745	0.922;0.869;0.573;0.932;0.962	B;B;B;P;P	0.47402	0.337;0.179;0.198;0.499;0.546	T	0.50329	-0.8841	9	0.87932	D	0	-40.3969	11.7692	0.51949	0.9311:0.0:0.0689:0.0	.	133;133;133;133;133	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	G	15;132;123	ENSP00000384055:E132G;ENSP00000318472:E123G	ENSP00000318472:E123G	E	+	2	0	NCAM1	112581506	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.240000	0.78192	0.994000	0.38892	-0.290000	0.09829	GAA			0.507	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000394068.2		NM_000615		G	113076296	A	G	113076296	3	3	61	1	0	0	0	0	1	0	0	0	10219	246	9	4	413	4	NCAM1	11	113076296	Missense_Mutation	SNP	A	TCGA-2G-AAKO-01A-11D-A42Y-10	63871506	113076296	21930220	38	4384											
PHLDB1	23187	mdanderson.org	37	chr11	118498701	118498701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaagtttcagcctccaGtccctgctccccgaaacaag	9	7	7	18	1	1	0	1	0	0	0	4	1	4	0	7	0	3	2	7	0	3	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr11:118498701G>T	ENST00000361417.2	+	7	1573	c.1162G>T	c.(1162-1164)Gtc>Ttc	p.V388F	PHLDB1_ENST00000356063.5_Missense_Mutation_p.V388F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	388										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAGCCTCCAGTCCCTGCTCC	0.617																																					p.V388F													.	.			0			c.G1162T												93	90	91					11																	118498701		2200	4295	6495	SO:0001583	missense	23187	exon6			CCTCCAGTCCCTG		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1162G>T	11.37:g.118498701G>T	ENSP00000354498:p.Val388Phe		70	0	0		39	0.08	3	NM_001144758	22	0	0	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281122	0.23392	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.31510	1.49;1.5	5.13	4.15	0.48705	.	0.746115	0.12946	N	0.426229	T	0.17619	0.0423	N	0.25647	0.755	0.18873	N	0.999981	P;B;B	0.37636	0.603;0.144;0.435	B;B;B	0.34242	0.178;0.022;0.082	T	0.05954	-1.0854	10	0.10902	T	0.67	-32.9979	8.6444	0.33996	0.1765:0.0:0.8235:0.0	.	388;388;388	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	F	388;147;388	ENSP00000354498:V388F;ENSP00000348359:V388F	ENSP00000348359:V388F	V	+	1	0	PHLDB1	118003911	0.925000	0.31364	0.997000	0.53966	0.949000	0.60115	1.690000	0.37711	2.667000	0.90743	0.563000	0.77884	GTC			0.617	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389279.1		NM_015157		T	118498701	G	T	118498701	3	4	61	1	0	0	0	0	1	0	0	0	11868	1029	36	3	1180	3	PHLDB1	11	118498701	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	5422405	118498701	16507815	39	4385											
KDM5A	5927	bcgsc.ca	37	chr12	459828	459828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctccgcccatccttcaccgGaaatccacttccaaagtctt	9	11	4	17	2	3	0	1	0	2	0	7	1	6	1	6	1	0	0	6	1	2	3			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr12:459828G>A	ENST00000399788.2	-	10	1629	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	KDM5A_ENST00000382815.4_Missense_Mutation_p.P423S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	423					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						TCCTTCACCGGAAATCCACTT	0.418			T	NUP98	AML																																p.P423S				Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	KDM5A_ENST00000399788,NS,carcinoma,+1,4	KDM5A	307	4	0			c.C1267T												106	99	101					12																	459828		1855	4098	5953	SO:0001583	missense	5927	exon10			TCACCGGAAATCC		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.1267C>T	12.37:g.459828G>A	ENSP00000382688:p.Pro423Ser		183	0	0		219	0	0	NM_001042603	39	0	0	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253523	0.95336	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.89270	-2.49;-2.29	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.95191	0.8441	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	0.999;0.986;1.0	D;D;D	0.97110	0.996;0.966;1.0	D	0.95154	0.8275	10	0.87932	D	0	-15.0622	20.058	0.97661	0.0:0.0:1.0:0.0	.	423;423;423	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	S	382;423;423	ENSP00000382688:P423S;ENSP00000372265:P423S	ENSP00000372265:P423S	P	-	1	0	KDM5A	330089	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.809000	0.99208	2.752000	0.94435	0.655000	0.94253	CCG			0.418	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397812.1		NM_005056		A	459828	G	A	459828	3	1	61	1	0	0	0	0	1	0	0	0	8148	1174	41	3	3881	3	KDM5A	12	459828	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		459828	133392067	40	4386											
ACCN2	41	mdanderson.org	37	chr12	50452708	50452708	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctgtgcttcctgggctcCctggctgtgctgctgtgtgt	0	14	14	13	0	0	0	0	0	0	0	2	0	2	0	3	2	3	5	3	2	0	1	rs653576	byFrequency	TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr12:50452708C>A	ENST00000447966.2	+	2	388	c.159C>A	c.(157-159)tcC>tcA	p.S53S	ASIC1_ENST00000228468.4_Silent_p.S53S	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	53					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TCCTGGGCTCCCTGGCTGTGC	0.622																																					p.S53S													.	.			0			c.C159A												139	110	120					12																	50452708		2203	4300	6503	SO:0001819	synonymous_variant	41	exon2			GGGCTCCCTGGCT	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.159C>A	12.37:g.50452708C>A			60	0	0		73	0.03	2	NM_020039	4	0	0	A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	CCDS44876.1																																																																																					0.622	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406004.2		NM_020039		A	50452708	C	A	50452708	2	1	61	1	0	0	0	0	0	0	0	1	129	610	22	3		3	ACCN2	12	50452708	Silent	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	49992880	50452708	83399187	41	4387											
PTPRB	5787	bcgsc.ca	37	chr12	70970172	70970172	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagccttacctgtccgctcTtggctgaaggagtgattttc	7	13	10	11	1	1	2	0	2	1	0	3	3	2	3	3	2	2	2	3	2	2	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr12:70970172T>A	ENST00000261266.5	-	9	2207	c.2178A>T	c.(2176-2178)caA>caT	p.Q726H	PTPRB_ENST00000538708.1_Missense_Mutation_p.Q726H|PTPRB_ENST00000551525.1_Missense_Mutation_p.Q943H|PTPRB_ENST00000451516.2_Missense_Mutation_p.Q636H|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q636H|PTPRB_ENST00000334414.6_Missense_Mutation_p.Q944H|PTPRB_ENST00000550358.1_Intron	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	726	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGTCCGCTCTTGGCTGAAGG	0.512																																					p.Q944H													.	PTPRB	676		0			c.A2832T												57	58	57					12																	70970172		1986	4170	6156	SO:0001583	missense	5787	exon11			CCGCTCTTGGCTG	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.2178A>T	12.37:g.70970172T>A	ENSP00000261266:p.Gln726His		108	0	0		110	0	0	NM_001109754	8	0	0	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.347471	0.41599	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T	0.05025	4.03;4.02;4.11;4.02;4.08;3.51;3.56	5.98	-1.95	0.07548	Fibronectin, type III (2);	0.185240	0.48286	N	0.000190	T	0.11410	0.0278	L	0.47716	1.5	0.30825	N	0.737355	D;D;D;P;D;D	0.69078	0.994;0.994;0.988;0.903;0.997;0.981	D;D;P;P;D;P	0.65987	0.914;0.914;0.823;0.605;0.94;0.823	T	0.07347	-1.0777	10	0.27082	T	0.32	.	7.8677	0.29547	0.1095:0.464:0.0:0.4265	.	636;726;823;943;944;726	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467	.;.;.;.;.;PTPRB_HUMAN	H	944;636;726;636;726;943;823	ENSP00000334928:Q944H;ENSP00000393028:Q636H;ENSP00000438927:Q726H;ENSP00000447302:Q636H;ENSP00000261266:Q726H;ENSP00000448349:Q943H;ENSP00000446982:Q823H	ENSP00000261266:Q726H	Q	-	3	2	PTPRB	69256439	0.992000	0.36948	0.991000	0.47740	0.930000	0.56654	0.286000	0.18902	-0.394000	0.07727	0.528000	0.53228	CAA			0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000404439.1				A	70970172	T	A	70970172	3	1	61	1	0	0	0	0	1	0	0	0	12819	1606	56	5	3911	5	PTPRB	12	70970172	Missense_Mutation	SNP	T	TCGA-2G-AAKO-01A-11D-A42Y-10	20517464	70970172	62881723	42	4388											
CCDC60	160777	mdanderson.org	37	chr12	119866560	119866560	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcaaaaaggaccttataCgaagccggtgagtgagccca	14	6	10	11	2	1	2	1	2	0	0	1	4	1	3	4	2	3	0	4	2	5	2	rs373119369		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr12:119866560C>T	ENST00000327554.2	+	2	628	c.163C>T	c.(163-165)Cga>Tga	p.R55*	CCDC60_ENST00000539847.1_Nonsense_Mutation_p.R55*|CCDC60_ENST00000536742.1_Nonsense_Mutation_p.R55*|CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										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)		GGACCTTATACGAAGCCGGTG	0.478																																					p.R55X													CCDC60,NS,malignant_melanoma,-1,3	CCDC60	-1	3	0			c.C163T							C	stop/ARG	0,4406		0,0,2203	67	59	61		163	3.6	0.9	12		61	1,8597		0,1,4298	no	stop-gained	CCDC60	NM_178499.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		55/551	119866560	1,13003	2203	4299	6502	SO:0001587	stop_gained	160777	exon2			CTTATACGAAGCC	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.163C>T	12.37:g.119866560C>T	ENSP00000333374:p.Arg55*		48	0	0		52	0.06	3	NM_178499	0		0		Nonsense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565342	0.86439	0.0	1.16E-4	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	.	.	.	4.54	3.63	0.41609	.	0.145780	0.31061	N	0.008324	.	.	.	.	.	.	0.29767	N	0.835063	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.5494	9.9771	0.41791	0.2015:0.7985:0.0:0.0	.	.	.	.	X	55	.	.	R	+	1	2	CCDC60	118350943	0.823000	0.29233	0.861000	0.33841	0.920000	0.55202	1.629000	0.37071	1.465000	0.48006	0.655000	0.94253	CGA			0.478	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401680.1		NM_178499		T	119866560	C	T	119866560	4	4	61	1	0	0	0	0	0	1	0	0	2833	528	19	1	169	1	CCDC60	12	119866560	Nonsense_Mutation	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	48896388	119866560	13985335	43	4389											
KIAA0391	9692	bcgsc.ca	37	chr14	35593060	35593060	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgaaattatgaaagcCagatataagactttagaacc	16	12	7	6	0	1	5	0	2	1	3	1	5	1	5	2	0	2	0	2	0	7	6			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr14:35593060C>G	ENST00000557565.1	+	2	990	c.609C>G	c.(607-609)gcC>gcG	p.A203A	KIAA0391_ENST00000250377.7_Silent_p.A108A|PPP2R3C_ENST00000555644.1_5'Flank|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000604948.1_Silent_p.A108A|KIAA0391_ENST00000534898.4_Silent_p.A203A|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.A203A|KIAA0391_ENST00000321130.10_Silent_p.A203A	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	203					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)		TTATGAAAGCCAGATATAAGA	0.373																																					p.A203A													.	KIAA0391	35		0			c.C609G												61	62	62					14																	35593060		2203	4300	6503	SO:0001819	synonymous_variant	0	exon2			GAAAGCCAGATAT	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.609C>G	14.37:g.35593060C>G			114	0	0		103	0	0	NM_014672	37	0	0	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	CCDS32063.1																																																																																					0.373	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding		OTTHUMT00000411280.1		NM_014672		G	35593060	C	G	35593060	2	3	61	1	0	0	0	0	0	0	0	1	8187	581	21	5		5	KIAA0391	14	35593060	Silent	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10		35593060	71756480	44	4390											
KCNH5	27133	mdanderson.org	37	chr14	63417243	63417243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagtcgtaagagacgcAccacttttaaagaactgaag	14	7	10	10	2	0	3	0	1	0	2	1	4	0	3	2	1	1	2	2	1	5	3			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr14:63417243A>G	ENST00000322893.7	-	7	1245	c.977T>C	c.(976-978)gTg>gCg	p.V326A	KCNH5_ENST00000394968.1_Missense_Mutation_p.V268A|KCNH5_ENST00000394964.2_Missense_Mutation_p.V268A|KCNH5_ENST00000420622.2_Missense_Mutation_p.V326A	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	326					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TAAGAGACGCACCACTTTTAA	0.433																																					p.V326A													.	.			0			c.T977C												57	57	57					14																	63417243		2203	4300	6503	SO:0001583	missense	27133	exon7			AGACGCACCACTT	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.977T>C	14.37:g.63417243A>G	ENSP00000321427:p.Val326Ala		21	0	0		14	0.14	2	NM_172375	1	0	0	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	8.504	0.864965	0.17250	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.79	5.79	0.91817	Ion transport (1);	0.116376	0.64402	D	0.000020	D	0.95364	0.8495	N	0.21448	0.665	0.80722	D	1	B;B;B;B	0.27656	0.009;0.009;0.009;0.184	B;B;B;B	0.33799	0.028;0.006;0.006;0.17	D	0.94091	0.7353	10	0.10111	T	0.7	.	16.1169	0.81309	1.0:0.0:0.0:0.0	.	268;268;326;326	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	A	326;326;268;268	ENSP00000321427:V326A;ENSP00000395439:V326A;ENSP00000378419:V268A;ENSP00000378415:V268A	ENSP00000321427:V326A	V	-	2	0	KCNH5	62486996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.329000	0.96413	2.205000	0.71048	0.482000	0.46254	GTG			0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411747.1		NM_139318		G	63417243	A	G	63417243	3	3	61	1	0	0	0	0	1	0	0	0	8050	159	6	4	2043	4	KCNH5	14	63417243	Missense_Mutation	SNP	A	TCGA-2G-AAKO-01A-11D-A42Y-10	27824183	63417243	43932297	45	4391											
CYP19A1	1588	bcgsc.ca	37	chr15	51504564	51504564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcattgggtttggggaaaaActcgagtctgtgcatccttc	8	14	11	8	1	2	0	1	0	1	0	5	2	3	1	1	3	2	2	1	3	2	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr15:51504564A>G	ENST00000396402.1	-	9	1369	c.1216T>C	c.(1216-1218)Ttt>Ctt	p.F406L	CYP19A1_ENST00000396404.4_Missense_Mutation_p.F406L|CYP19A1_ENST00000559878.1_Missense_Mutation_p.F406L|CYP19A1_ENST00000260433.2_Missense_Mutation_p.F406L|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	406					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)	TTGGGGAAAAACTCGAGTCTG	0.403																																					p.F406L	Melanoma(142;1016 1807 39614 48966 51721)												.	CYP19A1	75		0			c.T1216C												134	127	129					15																	51504564		2196	4293	6489	SO:0001583	missense	1588	exon10			GGAAAAACTCGAG	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.1216T>C	15.37:g.51504564A>G	ENSP00000379683:p.Phe406Leu		138	0.0072463768	1		136	0	0	NM_031226	0		0	Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361623	0.82353	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.66638	-0.22;-0.22;-0.22	6.06	6.06	0.98353	.	0.090176	0.85682	D	0.000000	T	0.63094	0.2482	L	0.48218	1.51	0.50467	D	0.999878	B	0.25169	0.119	B	0.24541	0.054	T	0.61262	-0.7098	10	0.62326	D	0.03	-14.806	16.6093	0.84858	1.0:0.0:0.0:0.0	.	406	P11511	CP19A_HUMAN	L	406	ENSP00000379683:F406L;ENSP00000260433:F406L;ENSP00000379685:F406L	ENSP00000260433:F406L	F	-	1	0	CYP19A1	49291856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.879000	0.92398	2.324000	0.78689	0.533000	0.62120	TTT			0.403	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254669.1				G	51504564	A	G	51504564	3	3	61	1	0	0	0	0	1	0	0	0	4150	43	2	4	303	4	CYP19A1	15	51504564	Missense_Mutation	SNP	A	TCGA-2G-AAKO-01A-11D-A42Y-10		51504564	51026828	46	4392											
ATF7IP2	80063	mdanderson.org	37	chr16	10531989	10531989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattcagcaggagatctataGcataaattatgaactatttg	15	13	8	5	0	2	2	1	1	1	1	2	4	2	2	0	1	3	2	0	1	7	7			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr16:10531989G>T	ENST00000396560.2	+	5	1219	c.992G>T	c.(991-993)aGc>aTc	p.S331I	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.S331I|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.S331I|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.S331I	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GAGATCTATAGCATAAATTAT	0.308																																					p.S331I													.	.			0			c.G992T												86	88	88					16																	10531989		2197	4300	6497	SO:0001583	missense	80063	exon6			TCTATAGCATAAA	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.992G>T	16.37:g.10531989G>T	ENSP00000379808:p.Ser331Ile		42	0	0		53	0.06	3	NM_001256160	8	0	0	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	4.942	0.174988	0.09391	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.65	-2.0	0.07433	.	0.319348	0.28754	N	0.014253	T	0.20618	0.0496	L	0.34521	1.04	0.09310	N	1	B;B	0.29988	0.123;0.264	B;B	0.24974	0.057;0.032	T	0.06180	-1.0841	10	0.39692	T	0.17	-2.4493	0.5517	0.00664	0.2565:0.1213:0.2957:0.3265	.	331;331	Q5U623-2;Q5U623	.;MCAF2_HUMAN	I	331	ENSP00000379807:S331I;ENSP00000379808:S331I;ENSP00000440791:S331I;ENSP00000348799:S331I;ENSP00000322811:S331I	ENSP00000322811:S331I	S	+	2	0	ATF7IP2	10439490	0.039000	0.19947	0.000000	0.03702	0.023000	0.10783	0.103000	0.15292	-0.153000	0.11137	-0.142000	0.14014	AGC			0.308	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251961.1		NM_024997		T	10531989	G	T	10531989	3	4	61	1	0	0	0	0	1	0	0	0	1088	971	34	2	1002	2	ATF7IP2	16	10531989	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		10531989	79822764	47	4393											
IL27	55911	broad.mit.edu	37	chr16	28511197	28511197	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcctcctcctcctcTtcctcctcctcctcctccgg	0	14	2	25	1	1	0	0	0	1	0	13	0	13	0	12	1	0	0	12	1	0	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr16:28511197T>C	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.E169E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						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						cctcctcctcttcctcctcct	0.672																																					p.E169E													.	IL27	27		0			c.A507G												8	9	9					16																	28511197		2149	4215	6364	SO:0001628	intergenic_variant	246778	exon5			CTCCTCTTCCTCC	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			16.37:g.28511197T>C			53	0	0		41	0.12	5	NM_145659	1	0	0	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																						0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_182804		C	28511197	T	C	28511197	1	2	61	0	1	0	0	0	0	0	0	0	7695	1606	56	4		4	IL27	16	28511197	IGR	SNP	T	TCGA-2G-AAKO-01A-11D-A42Y-10	17979208	28511197	61843556	48	4394											
PITPNM3	83394	mdanderson.org	37	chr17	6358778	6358778	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcttggggttggcggcGggcgggtcgggctgctgcac	1	8	22	10	5	0	0	0	0	0	0	2	0	0	0	0	8	2	5	0	8	0	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr17:6358778G>T	ENST00000262483.8	-	20	2892	c.2805C>A	c.(2803-2805)ccC>ccA	p.P935P	PITPNM3_ENST00000421306.3_Silent_p.P899P|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	935					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)		GGTTGGCGGCGGGCGGGTCGG	0.726																																					p.P935P													.	.			0			c.C2805A												14	20	18					17																	6358778		2170	4283	6453	SO:0001819	synonymous_variant	83394	exon20			GGCGGCGGGCGGG	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.2805C>A	17.37:g.6358778G>T			31	0	0		23	0.13	3	NM_031220	0		0	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																					0.726	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000219824.2		NM_031220		T	6358778	G	T	6358778	2	4	61	1	0	0	0	0	0	0	0	1	11969	1103	39	1		1	PITPNM3	17	6358778	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		6358778	74836432	49	4395											
TBC1D26	353149	broad.mit.edu;mdanderson.org	37	chr17	15641610	15641610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagctgtctcaaagagtatAcaaagtcattcccctggcgg	11	10	10	10	1	2	1	2	0	1	1	4	1	3	1	2	2	2	3	2	2	5	4	rs202131240		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr17:15641610A>G	ENST00000437605.2	+	7	546	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.Y99C|AC005324.6_ENST00000580194.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	99							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CAAAGAGTATACAAAGTCATT	0.527																																					p.Y99C													.	TBC1D26	16		0			c.A296G												94	90	91					17																	15641610		1953	4139	6092	SO:0001583	missense	353149	exon7			GAGTATACAAAGT		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.296A>G	17.37:g.15641610A>G	ENSP00000410111:p.Tyr99Cys		89	0	0		89	0.06	5	NM_178571	0		0	A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	a	6.884	0.532498	0.13127	.	.	ENSG00000214946	ENST00000437605	T	0.40756	1.02	1.44	-0.0271	0.13927	Rab-GAP/TBC domain (2);	0.436109	0.22940	U	0.053784	T	0.48943	0.1528	L	0.58583	1.82	0.19945	N	0.999948	D;D	0.76494	0.999;0.981	D;D	0.67231	0.95;0.914	T	0.36601	-0.9741	10	0.52906	T	0.07	.	3.1782	0.06576	0.6204:0.0:0.0:0.3796	.	99;99	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	C	99	ENSP00000410111:Y99C	ENSP00000410111:Y99C	Y	+	2	0	TBC1D26	15582335	0.952000	0.32445	0.008000	0.14137	0.029000	0.11900	1.676000	0.37565	-0.258000	0.09446	0.338000	0.21704	TAC			0.527	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_178571		G	15641610	A	G	15641610	3	3	61	1	0	0	0	0	1	0	0	0	15639	391	14	4	314	4	TBC1D26	17	15641610	Missense_Mutation	SNP	A	TCGA-2G-AAKO-01A-11D-A42Y-10	9282832	15641610	65553600	50	4396											
MED9	55090	mdanderson.org	37	chr17	17380478	17380478	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgccggtccctgcgccTcaaccgcagcagtcgccggc	4	4	12	21	7	1	0	1	0	0	0	3	0	2	0	7	2	3	2	7	2	1	0			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr17:17380478T>C	ENST00000268711.3	+	1	179	c.123T>C	c.(121-123)ccT>ccC	p.P41P	MED9_ENST00000585041.1_3'UTR|MED9_ENST00000580462.1_Silent_p.P41P	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	41	Pro-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						tccctgcgcctcaaccgcagc	0.652																																					p.P41P													.	.			0			c.T123C												16	17	17					17																	17380478		2200	4294	6494	SO:0001819	synonymous_variant	55090	exon1			TGCGCCTCAACCG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.123T>C	17.37:g.17380478T>C			74	0	0		52	0.06	3	NM_018019	40	0	0		Silent	SNP	ENST00000268711.3	37	CCDS11184.1																																																																																					0.652	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131669.2		NM_018019		C	17380478	T	C	17380478	2	2	61	1	0	0	0	0	0	0	0	1	9470	1538	54	4		4	MED9	17	17380478	Silent	SNP	T	TCGA-2G-AAKO-01A-11D-A42Y-10	1738868	17380478	63814732	51	4397											
ERAL1	26284	broad.mit.edu	37	chr17	27182148	27182148	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgagggagcgggtgatcccTttttcctcactcttaggctt	5	13	12	11	2	2	1	1	1	1	0	4	3	4	2	2	3	1	1	2	3	1	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr17:27182148T>C	ENST00000254928.5	+	1	193	c.96T>C	c.(94-96)ccT>ccC	p.P32P	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	32					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)			GGGTGATCCCTTTTTCCTCAC	0.627																																					p.P32P													ERAL1,NS,carcinoma,+1,1	ERAL1	28	1	0			c.T96C												89	77	81					17																	27182148		2203	4300	6503	SO:0001819	synonymous_variant	26284	exon1			GATCCCTTTTTCC	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.96T>C	17.37:g.27182148T>C			157	0	0		145	0.03	4	NM_005702	72	0	0	B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	ENST00000254928.5	37	CCDS11244.1																																																																																					0.627	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255937.2				C	27182148	T	C	27182148	2	2	61	1	0	0	0	0	0	0	0	1	5209	1596	56	4		4	ERAL1	17	27182148	Silent	SNP	T	TCGA-2G-AAKO-01A-11D-A42Y-10	9801670	27182148	54013062	52	4398											
ATAD5	79915	bcgsc.ca	37	chr17	29162012	29162012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatagtcaaaagtggttatAtaagtgaatcagaaaactcc	19	10	7	5	0	2	2	2	1	0	1	3	2	3	2	1	1	1	1	1	1	10	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr17:29162012A>G	ENST00000321990.4	+	2	1291	c.913A>G	c.(913-915)Ata>Gta	p.I305V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	305					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)				AAGTGGTTATATAAGTGAATC	0.393																																					p.I305V													ATAD5,NS,carcinoma,-2,1	ATAD5	150	1	0			c.A913G												44	48	47					17																	29162012		2202	4298	6500	SO:0001583	missense	79915	exon2			GGTTATATAAGTG		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.913A>G	17.37:g.29162012A>G	ENSP00000313171:p.Ile305Val		226	0	0		230	0	0	NM_024857	8	0	0	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	0.278	-0.988430	0.02162	.	.	ENSG00000176208	ENST00000321990	T	0.15256	2.44	5.91	-0.972	0.10300	.	1.523970	0.03334	N	0.193792	T	0.07548	0.0190	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	0.28776	-1.0033	10	0.02654	T	1	.	6.8054	0.23774	0.5513:0.119:0.3297:0.0	.	305;305	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	V	305	ENSP00000313171:I305V	ENSP00000313171:I305V	I	+	1	0	ATAD5	26186138	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	0.081000	0.14823	-0.387000	0.07809	-1.125000	0.01998	ATA			0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256206.2		NM_024857		G	29162012	A	G	29162012	3	3	61	1	0	0	0	0	1	0	0	0	1076	449	16	4	919	4	ATAD5	17	29162012	Missense_Mutation	SNP	A	TCGA-2G-AAKO-01A-11D-A42Y-10	1979864	29162012	52033198	53	4399											
HNF1B	6928	mdanderson.org	37	chr17	36104627	36104627	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgtgtcatagtcgtcGccgtcctcggagccctcgtc	4	10	14	13	5	1	0	1	0	0	0	7	2	2	2	3	3	1	0	3	3	1	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr17:36104627G>T	ENST00000225893.4	-	1	610	c.249C>A	c.(247-249)ggC>ggA	p.G83G	HNF1B_ENST00000561193.1_Silent_p.G83G|HNF1B_ENST00000427275.2_Silent_p.G83G|HNF1B_ENST00000560016.1_Silent_p.G83G|RP11-115K3.1_ENST00000558143.1_RNA	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	83					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|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)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CATAGTCGTCGCCGTCCTCGG	0.687																																					p.G83G	Colon(71;102 1179 9001 27917 43397)												.	.			0			c.C249A												48	52	50					17																	36104627		2203	4299	6502	SO:0001819	synonymous_variant	6928	exon1			GTCGTCGCCGTCC	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.249C>A	17.37:g.36104627G>T			41	0	0		31	0.1	3	NM_001165923	4	0	0	B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	CCDS11324.1																																																																																					0.687	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256807.3		NM_000458		T	36104627	G	T	36104627	2	4	61	1	0	0	0	0	0	0	0	1	7267	1074	38	1		1	HNF1B	17	36104627	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	6942615	36104627	45090583	54	4400											
PRAM1	4670	broad.mit.edu	37	chr19	8555089	8555089	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttaccgtcccagggggAgtggttggttttccagggga	5	11	17	8	1	1	0	0	0	1	0	3	2	3	2	3	7	1	2	3	7	1	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr19:8555089A>G	ENST00000325495.4	+	0	2494				PRAM1_ENST00000423345.4_Missense_Mutation_p.L666P|PRAM1_ENST00000255612.3_Missense_Mutation_p.L665P	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCCCAGGGGGAGTGGTTGGTT	0.677																																					p.L666P													.	PRAM1	53		0			c.T1997C												25	31	29					19																	8555089		2169	4281	6450	SO:0001628	intergenic_variant	84106	exon10			AGGGGGAGTGGTT	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555089A>G			113	0.0265486726	3		118	0.05	6	NM_032152	9	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	A	7.886	0.731202	0.15507	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.19394	2.15;2.15	3.65	1.24	0.21308	.	1.112880	0.07123	N	0.844156	T	0.12944	0.0314	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.18461	0.011;0.028	B;B	0.19946	0.018;0.027	T	0.34976	-0.9807	10	0.72032	D	0.01	.	5.5204	0.16929	0.7294:0.0:0.2706:0.0	.	666;714	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	P	665;666	ENSP00000255612:L665P;ENSP00000408342:L666P	ENSP00000255612:L665P	L	-	2	0	PRAM1	8461089	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.266000	0.18534	0.183000	0.20059	-0.464000	0.05259	CTC			0.677	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000460894.1				G	8555089	A	G	8555089	1	3	61	0	1	0	0	0	0	0	0	0	12443	304	11	4		4	PRAM1	19	8555089	IGR	SNP	A	TCGA-2G-AAKO-01A-11D-A42Y-10		8555089	50573894	55	4401											
SLC35E1	79939	mdanderson.org	37	chr19	16682776	16682776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgtgtgcataggacacggGcaccttccagatgctgacgt	8	9	14	10	2	0	2	0	1	0	1	1	3	1	3	2	3	2	3	2	3	1	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr19:16682776G>A	ENST00000595753.1	-	1	417	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	SLC35E1_ENST00000431408.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	134					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TAGGACACGGGCACCTTCCAG	0.711																																					p.P134S													.	.			0			c.C400T												8	8	8					19																	16682776		685	1578	2263	SO:0001583	missense	79939	exon1			ACACGGGCACCTT	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.400C>T	19.37:g.16682776G>A	ENSP00000470652:p.Pro134Ser		56	0	0		50	0.06	3	NM_024881	18	0	0	Q8NBQ2|Q96JV7	Missense_Mutation	SNP	ENST00000595753.1	37	CCDS12346.2	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681561	0.68042	.	.	ENSG00000127526	ENST00000409648;ENST00000436553	.	.	.	3.68	3.68	0.42216	Drug/metabolite transporter (1);	.	.	.	.	T	0.64182	0.2575	L	0.58510	1.815	0.80722	D	1	P	0.52316	0.952	P	0.54460	0.753	T	0.63216	-0.6687	8	0.30854	T	0.27	.	13.9824	0.64313	0.0:0.0:1.0:0.0	.	134	Q96K37	S35E1_HUMAN	S	134;114	.	ENSP00000387152:P134S	P	-	1	0	SLC35E1	16543776	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	4.365000	0.59486	1.597000	0.50072	0.491000	0.48974	CCC			0.711	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326809.2		NM_024881		A	16682776	G	A	16682776	3	1	61	1	0	0	0	0	1	0	0	0	14607	1203	42	2	856	2	SLC35E1	19	16682776	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	8127687	16682776	42446207	56	4402											
CILP2	148113	ucsc.edu	37	chr19	19655587	19655587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaaggtgcgcgcctacGccaacgacaagttcaccccc	9	6	10	16	5	1	1	1	1	0	0	2	2	1	1	4	1	3	1	4	1	4	2	rs545964442		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr19:19655587G>A	ENST00000291495.5	+	8	2318	c.2233G>A	c.(2233-2235)Gcc>Acc	p.A745T	CILP2_ENST00000586018.1_Missense_Mutation_p.A751T	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	745						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGCGCCTACGCCAACGACAA	0.687													G|||	1	0.000199681	0	0	5008	,	,		14019	0.001		0	False		,,,				2504	0				p.A745T													.	CILP2	84		0			c.G2233A												17	19	18					19																	19655587		2193	4284	6477	SO:0001583	missense	148113	exon8			GCCTACGCCAACG	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2233G>A	19.37:g.19655587G>A	ENSP00000291495:p.Ala745Thr		12	0	0		19	0.21	4	NM_153221	53	0	0	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250322	0.22880	.	.	ENSG00000160161	ENST00000291495	T	0.09445	2.98	4.89	2.5	0.30297	.	0.377447	0.29972	N	0.010737	T	0.02970	0.0088	N	0.08118	0	0.24740	N	0.993049	P;P	0.38195	0.622;0.622	B;B	0.26416	0.048;0.069	T	0.33599	-0.9862	10	0.13853	T	0.58	-10.6212	2.9211	0.05770	0.242:0.2721:0.4859:0.0	.	745;745	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	T	745	ENSP00000291495:A745T	ENSP00000291495:A745T	A	+	1	0	CILP2	19516587	0.333000	0.24731	0.036000	0.18154	0.937000	0.57800	1.881000	0.39638	1.016000	0.39470	0.555000	0.69702	GCC			0.687	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459738.3		NM_153221		A	19655587	G	A	19655587	3	1	61	1	0	0	0	0	1	0	0	0	3432	1087	38	1	2263	1	CILP2	19	19655587	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	2972811	19655587	39473396	57	4403											
MEGF8	1954	mdanderson.org	37	chr19	42847747	42847747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggacttgatggcgtacaaGgtgcccccctttgtgttcca	6	11	13	11	1	0	1	0	1	0	0	1	2	1	2	4	4	2	2	4	4	2	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr19:42847747G>T	ENST00000251268.6	+	9	1632	c.1632G>T	c.(1630-1632)aaG>aaT	p.K544N	MEGF8_ENST00000334370.4_Missense_Mutation_p.K544N	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	544					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)				TGGCGTACAAGGTGCCCCCCT	0.652																																					p.K544N													.	.			0			c.G1632T												42	35	37					19																	42847747		2203	4300	6503	SO:0001583	missense	1954	exon9			GTACAAGGTGCCC	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.1632G>T	19.37:g.42847747G>T	ENSP00000251268:p.Lys544Asn		35	0	0		23	0.13	3	NM_001271938	11	0	0	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	17.72	3.458188	0.63401	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.22945	1.93;1.94	5.12	2.99	0.34606	.	0.000000	0.64402	D	0.000002	T	0.38134	0.1029	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.989	D;D	0.80764	0.994;0.985	T	0.04128	-1.0975	10	0.45353	T	0.12	-21.5037	9.4101	0.38487	0.1766:0.0:0.8234:0.0	.	544;544	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	N	544	ENSP00000334219:K544N;ENSP00000251268:K544N	ENSP00000251268:K544N	K	+	3	2	MEGF8	47539587	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.299000	0.43611	0.563000	0.29222	0.486000	0.48141	AAG			0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000463854.1		NM_001410		T	42847747	G	T	42847747	3	4	61	1	0	0	0	0	1	0	0	0	9479	991	35	3	1666	3	MEGF8	19	42847747	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	23192160	42847747	16281236	58	4404											
PSG3	5671	hgsc.bcm.edu	37	chr19	43236936	43236936	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacaggagatactcacGgaggagattcagggtgactg	13	6	16	6	1	2	3	2	1	0	2	2	8	2	5	0	5	2	0	0	5	2	2	rs545782001		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr19:43236936G>T	ENST00000327495.5	-	3	893	c.709C>A	c.(709-711)Ccg>Acg	p.P237T	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Splice_Site_p.P237T	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	237					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				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		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.542																																					p.P237T													PSG3,bladder,carcinoma,0,1	PSG3	0	1	0			c.C709A												200	202	202					19																	43236936		2202	4300	6502	SO:0001630	splice_region_variant	5671	exon3			ACTCACGGAGGAG		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.709+1C>A	19.37:g.43236936G>T			39	0	0		47	0.04	2	NM_021016	0		0	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	3.027	-0.200379	0.06219	.	.	ENSG00000221826	ENST00000327495	T	0.24538	1.85	1.59	0.445	0.16597	.	.	.	.	.	T	0.24661	0.0598	M	0.76170	2.325	0.19945	N	0.999943	B;B	0.23249	0.082;0.002	B;B	0.24006	0.05;0.007	T	0.30822	-0.9965	8	.	.	.	.	3.364	0.07197	0.7398:0.0:0.2602:0.0	.	215;237	Q08266;Q16557	.;PSG3_HUMAN	T	237	ENSP00000332215:P237T	.	P	-	1	0	PSG3	47928776	0.014000	0.17966	0.091000	0.20842	0.002000	0.02628	-0.909000	0.04058	-0.070000	0.12908	-0.515000	0.04445	CCG			0.542	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321423.2		NM_021016	Missense_Mutation	T	43236936	G	T	43236936	5	4	61	1	0	0	0	0	0	0	1	0	12676	1130	39	1	593	1	PSG3	19	43236936	Splice_Site	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	389189	43236936	15892047	59	4405											
SCAF1	58506	bcgsc.ca	37	chr19	50154180	50154202	+	Frame_Shift_Del	DEL	CACGGGAGACGGGGGCCCTGCCC	CACGGGAGACGGGGGCCCTGCCC	-																															gcccgtcacctcaccttgggCacgggagacgggggccctgc																								rs373270377|rs200665098|rs151252460	byFrequency	TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	CACGGGAGACGGGGGCCCTGCCC	CACGGGAGACGGGGGCCCTGCCC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr19:50154180_50154202delCACGGGAGACGGGGGCCCTGCCC	ENST00000360565.3	+	7	658_680	c.534_556delCACGGGAGACGGGGGCCCTGCCC	c.(532-558)ggcacgggagacgggggccctgccccafs	p.TGDGGPAP179fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	179					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)		TCACCTTGGGCACGGGAGACGGGGGccctgccccaccccctgc	0.682																																					p.178_186del													.	SCAF1	78		0			c.534_556del																																									SO:0001589	frameshift_variant	58506	exon7			CTTGGGCACGGGA	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.534_556delCACGGGAGACGGGGGCCCTGCCC	19.37:g.50154180_50154202delCACGGGAGACGGGGGCCCTGCCC	ENSP00000353769:p.Thr179fs		93	0	0		92	0	0	NM_021228	63	0	0	Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Del	DEL	ENST00000360565.3	37	CCDS33074.1																																																																																					0.682	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465764.1		NM_021228		-	50154202	CACGGGAGACGGGGGCCCTGCCC	-	50154180	7	5	61	1	0	1	0	1	0	0	0	0	13891	697	25	0	556	0	SCAF1	19	50154180	Frame_Shift_Del	DEL	CACGGGAGACGGGGGCCCTGCCC	TCGA-2G-AAKO-01A-11D-A42Y-10	6917244	50154180	8974803	60	4406											
ZNF816A	125893	mdanderson.org	37	chr19	53456016	53456016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcacccacaaactccaGgttcctgtagttctccaaca	10	11	4	16	0	2	0	1	0	1	0	6	0	5	0	5	1	2	3	5	1	3	4			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr19:53456016G>T	ENST00000357666.4	-	4	478	c.178C>A	c.(178-180)Ctg>Atg	p.L60M	ZNF816_ENST00000391786.2_Missense_Mutation_p.P54H|ZNF816_ENST00000270457.4_Missense_Mutation_p.L60M|ZNF321P_ENST00000391777.3_Missense_Mutation_p.L60M|ZNF816_ENST00000438970.2_Missense_Mutation_p.L60M|ZNF816_ENST00000535506.1_Missense_Mutation_p.L60M|ZNF816_ENST00000444460.2_Missense_Mutation_p.L60M|ZNF816_ENST00000434371.2_Missense_Mutation_p.L60M	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACAAACTCCAGGTTCCTGTAG	0.463																																					p.L60M													.	.			0			c.C178A												107	114	112					19																	53456016		2203	4300	6503	SO:0001583	missense	125893	exon3			ACTCCAGGTTCCT	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.178C>A	19.37:g.53456016G>T	ENSP00000350295:p.Leu60Met		30	0	0		40	0.08	3	NM_001202456	15	0	0	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.76|11.76	1.734871|1.734871	0.30774|0.30774	.|.	.|.	ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000221874|ENSG00000180257	ENST00000434371;ENST00000357666;ENST00000444460;ENST00000457013;ENST00000391777|ENST00000332302	T;T;T;T;T|.	0.03772|.	3.81;3.81;3.81;3.81;3.81|.	1.84|1.84	1.84|1.84	0.25277|0.25277	Krueppel-associated box (4);|.	.|.	.|.	.|.	.|.	T|T	0.71341|0.71341	0.3328|0.3328	M|M	0.92555|0.92555	3.32|3.32	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.62709|0.62709	-0.6797|-0.6797	9|6	0.72032|0.59425	D|D	0.01|0.04	.|.	10.6538|10.6538	0.45663|0.45663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	60|.	Q0VGE8|.	ZN816_HUMAN|.	M|H	60|95	ENSP00000438519:L60M;ENSP00000350295:L60M;ENSP00000403266:L60M;ENSP00000408965:L60M;ENSP00000375656:L60M|.	ENSP00000375656:L60M|ENSP00000333199:P95H	L|P	-|-	1|2	2|0	ZNF321P;ZNF816|ZNF816	58147828|58147828	0.006000|0.006000	0.16342|0.16342	0.747000|0.747000	0.31113|0.31113	0.400000|0.400000	0.30750|0.30750	0.181000|0.181000	0.16880|0.16880	1.000000|1.000000	0.39049|0.39049	0.305000|0.305000	0.20034|0.20034	CTG|CCT			0.463	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396132.1		NM_001031665		T	53456016	G	T	53456016	3	4	61	1	0	0	0	0	1	0	0	0	18200	991	35	3	1785	3	ZNF816A	19	53456016	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	3301836	53456016	5672967	61	4407											
UBE2M	9040	bcgsc.ca	37	chr19	59067702	59067702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagaagagatactgcaggCcataaattatggagtttatc	15	10	9	7	0	0	2	0	0	0	2	1	4	0	3	2	2	2	2	2	2	7	5			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr19:59067702C>T	ENST00000253023.3	-	5	970	c.392G>A	c.(391-393)gGc>gAc	p.G131D	AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000601220.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000600118.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	131					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		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)		ATACTGCAGGCCATAAATTAT	0.552																																					p.G131D													.	UBE2M	14		0			c.G392A												93	94	93					19																	59067702		2203	4300	6503	SO:0001583	missense	9040	exon5			TGCAGGCCATAAA	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"Ubiquitin-conjugating enzymes E2"	12491	protein-coding gene	gene with protein product		603173	"ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)", "ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.392G>A	19.37:g.59067702C>T	ENSP00000253023:p.Gly131Asp		115	0	0		93	0	0	NM_003969	254	0	0	O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531995	0.64972	.	.	ENSG00000130725	ENST00000253023	T	0.73152	-0.72	4.62	3.55	0.40652	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000004	D	0.89770	0.6811	H	0.98754	4.32	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.92742	0.6209	10	0.87932	D	0	-13.5837	12.6159	0.56576	0.0:0.8317:0.1682:0.0	.	131	P61081	UBC12_HUMAN	D	131	ENSP00000253023:G131D	ENSP00000253023:G131D	G	-	2	0	UBE2M	63759514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.137000	0.50562	1.280000	0.44463	0.655000	0.94253	GGC			0.552	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467097.1		NM_003969		T	59067702	C	T	59067702	3	4	61	1	0	0	0	0	1	0	0	0	16889	739	26	2	167	2	UBE2M	19	59067702	Missense_Mutation	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	5611686	59067702	61281	62	4408											
KRTAP10-10	353333	mdanderson.org	37	chr21	46058034	46058034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctcctctgccgccccGtgtgctcccgccctgcctgc	0	11	8	22	3	1	0	0	0	1	0	4	0	4	0	8	0	4	1	8	0	0	1	rs142158982	byFrequency	TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr21:46058034G>A	ENST00000380095.1	+	1	762	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	234						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCGCCCCGTGTGCTCCCG	0.692																																					p.V234M													.	.			0			c.G700A							G	,MET/VAL	54,4352		0,54,2149	54	58	57		,700	-2.9	0	21	dbSNP_134	57	16,8582		0,16,4283	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	0,70,6432	AA,AG,GG		0.1861,1.2256,0.5383	,possibly-damaging	,234/252	46058034	70,12934	2203	4299	6502	SO:0001583	missense	353333	exon1			CGCCCCGTGTGCT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.700G>A	21.37:g.46058034G>A	ENSP00000369438:p.Val234Met		56	0	0		51	0.08	4	NM_181688	0		0		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	94	0.04304029304029304	28	0.056910569105691054	7	0.019337016574585635	29	0.050699300699300696	30	0.0395778364116095	g	0.883	-0.728095	0.03135	0.012256	0.001861	ENSG00000221859	ENST00000380095	T	0.01215	5.16	3.52	-2.88	0.05682	.	.	.	.	.	T	0.00241	0.0007	M	0.71206	2.165	0.09310	N	1	B	0.20459	0.045	B	0.20955	0.032	T	0.38178	-0.9673	9	0.42905	T	0.14	.	5.1831	0.15171	0.3582:0.0:0.4952:0.1466	.	234	P60014	KR10A_HUMAN	M	234	ENSP00000369438:V234M	ENSP00000369438:V234M	V	+	1	0	KRTAP10-10	44882462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.581000	0.02119	-0.564000	0.06070	-1.314000	0.01303	GTG			0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688		A	46058034	G	A	46058034	3	1	61	1	0	0	0	0	1	0	0	0	8521	1145	40	1	702	1	KRTAP10-10	21	46058034	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10		46058034	2071861	63	4409											
DGCR2	9993	mdanderson.org	37	chr22	19052402	19052402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctccgctcgggctggtcCcattcctgggccaggacaaa	8	7	12	14	2	0	0	0	0	0	0	4	1	3	1	4	4	1	3	4	4	2	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr22:19052402C>A	ENST00000263196.7	-	4	754	c.507G>T	c.(505-507)tgG>tgT	p.W169C	DGCR2_ENST00000545799.1_Missense_Mutation_p.W166C|DGCR2_ENST00000537045.1_Missense_Mutation_p.W128C|DGCR2_ENST00000473832.1_5'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	169	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)					CGGGCTGGTCCCATTCCTGGG	0.612																																					p.W169C													.	.			0			c.G507T												56	51	53					22																	19052402		2203	4300	6503	SO:0001583	missense	9993	exon4			CTGGTCCCATTCC	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.507G>T	22.37:g.19052402C>A	ENSP00000263196:p.Trp169Cys		45	0	0		46	0.07	3	NM_005137	65	0	0	A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293586	0.80914	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	T;T;T	0.18960	2.18;2.18;2.18	4.96	4.96	0.65561	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.119039	0.64402	D	0.000013	T	0.46073	0.1374	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.931	T	0.34004	-0.9846	10	0.35671	T	0.21	.	17.8327	0.88687	0.0:1.0:0.0:0.0	.	125;169	B7Z3T5;P98153	.;IDD_HUMAN	C	128;169;166;169	ENSP00000440062:W128C;ENSP00000263196:W169C;ENSP00000445069:W166C	ENSP00000263196:W169C	W	-	3	0	DGCR2	17432402	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	0.878000	0.28126	2.297000	0.77311	0.467000	0.42956	TGG			0.612	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316504.1		NM_005137		A	19052402	C	A	19052402	3	1	61	1	0	0	0	0	1	0	0	0	4466	624	22	3	1173	3	DGCR2	22	19052402	Missense_Mutation	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10		19052402	32252164	64	4410											
CLDN5	7122	mdanderson.org	37	chr22	19511708	19511708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacatgggcagcccgcacGccaggatcagacccccccag	9	2	11	19	2	1	1	1	0	0	1	1	2	1	2	6	2	1	2	6	2	0	0			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr22:19511708G>T	ENST00000406028.1	-	2	1386	c.326C>A	c.(325-327)gCg>gAg	p.A109E	CLDN5_ENST00000413119.2_Missense_Mutation_p.A109E|CLDN5_ENST00000403084.1_Missense_Mutation_p.A109E			O00501	CLD5_HUMAN	claudin 5	24					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CAGCCCGCACGCCAGGATCAG	0.682																																					p.A109E													.	.			0			c.C326A												31	32	31					22																	19511708		2203	4299	6502	SO:0001583	missense	7122	exon1			CCGCACGCCAGGA	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"Claudins"	2047	protein-coding gene	gene with protein product		602101	"transmembrane protein deleted in velocardiofacial syndrome"	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.326C>A	22.37:g.19511708G>T	ENSP00000385477:p.Ala109Glu		23	0	0		26	0.08	2	NM_001130861	18	0	0	B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	G	34	5.324332	0.95708	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.89050	-2.46;-2.46;-2.46	5.24	5.24	0.73138	.	0.118364	0.56097	D	0.000034	D	0.95265	0.8464	M	0.90369	3.11	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	D	0.96070	0.9045	10	0.87932	D	0	.	16.3127	0.82898	0.0:0.0:1.0:0.0	.	109	D3DX19	.	E	109	ENSP00000385477:A109E;ENSP00000384554:A109E;ENSP00000400612:A109E	ENSP00000384554:A109E	A	-	2	0	CLDN5	17891708	0.026000	0.19158	1.000000	0.80357	0.986000	0.74619	1.777000	0.38604	2.466000	0.83321	0.563000	0.77884	GCG			0.682	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318122.3		NM_003277		T	19511708	G	T	19511708	3	4	61	1	0	0	0	0	1	0	0	0	3490	1087	38	1	589	1	CLDN5	22	19511708	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	459306	19511708	31792858	65	4411											
TMPRSS6	164656	mdanderson.org	37	chr22	37480838	37480838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggtgctgaggacgccctGggagtcgagcctgttgtcca	5	8	17	11	3	0	1	0	1	0	0	2	4	1	3	3	4	2	2	3	4	0	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr22:37480838G>T	ENST00000346753.3	-	9	1158	c.1042C>A	c.(1042-1044)Cag>Aag	p.Q348K	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.Q339K|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.Q348K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.Q339K|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.Q339K	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	348	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGGACGCCCTGGGAGTCGAGC	0.652																																					p.Q348K													.	.			0			c.C1042A												84	69	74					22																	37480838		2197	4288	6485	SO:0001583	missense	164656	exon9			CGCCCTGGGAGTC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1042C>A	22.37:g.37480838G>T	ENSP00000334962:p.Gln348Lys		40	0.025	1		25	0.08	2	NM_153609	1	0	0	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	g	14.29	2.490328	0.44249	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000429068;ENST00000442782	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.31;2.1	4.39	4.39	0.52855	CUB (4);	0.000000	0.64402	D	0.000001	T	0.45796	0.1360	M	0.72118	2.19	0.53688	D	0.999973	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.81914	0.995;0.991;0.98	T	0.47947	-0.9077	10	0.54805	T	0.06	.	15.9326	0.79675	0.0:0.0:1.0:0.0	.	348;339;348	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	K	339;348;339;339;10;348	ENSP00000371211:Q339K;ENSP00000334962:Q348K;ENSP00000385453:Q339K;ENSP00000384964:Q339K;ENSP00000392433:Q10K;ENSP00000397691:Q348K	ENSP00000334962:Q348K	Q	-	1	0	TMPRSS6	35810784	1.000000	0.71417	0.741000	0.31004	0.031000	0.12232	8.359000	0.90093	1.985000	0.57927	0.457000	0.33378	CAG			0.652	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000318822.1		NM_153609		T	37480838	G	T	37480838	3	4	61	1	0	0	0	0	1	0	0	0	16274	1357	47	3	1433	3	TMPRSS6	22	37480838	Missense_Mutation	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	17969130	37480838	13823728	66	4412											
SH3BP1	23616	mdanderson.org	37	chr22	38044407	38044407	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaacatcgccatagtcctGggacccaacttgctgtggcc	9	8	10	14	1	0	0	0	0	0	0	2	1	1	1	4	2	4	2	4	2	3	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chr22:38044407G>T	ENST00000357436.4	+	14	1594	c.1281G>T	c.(1279-1281)ctG>ctT	p.L427L	SH3BP1_ENST00000599616.1_Silent_p.L363L|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.L427L|SH3BP1_ENST00000336738.5_Silent_p.L427L	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	427	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCATAGTCCTGGGACCCAACT	0.607																																					p.L427L													.	.			0			c.G1281T												59	45	50					22																	38044407		2192	4294	6486	SO:0001819	synonymous_variant	23616	exon14			AGTCCTGGGACCC		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1281G>T	22.37:g.38044407G>T			49	0	0		33	0.09	3	NM_018957	282	0	0	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	CCDS13952.2																																																																																					0.607	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075884.4		NM_018957		T	38044407	G	T	38044407	2	4	61	1	0	0	0	0	0	0	0	1	14267	1335	47	3		3	SH3BP1	22	38044407	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	563569	38044407	13260159	67	4413											
ZFX	7543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chrX	24228773	24228773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcagagctcaaaaagcaCatgagaatccatactgggga	15	6	10	10	1	2	2	2	1	0	2	3	4	3	3	2	2	3	2	2	2	4	1			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chrX:24228773C>T	ENST00000379177.1	+	11	2125	c.1698C>T	c.(1696-1698)caC>caT	p.H566H	ZFX_ENST00000540034.1_Silent_p.H605H|ZFX_ENST00000338565.3_Silent_p.H516H|ZFX_ENST00000379188.3_Silent_p.H566H|ZFX_ENST00000539115.1_Silent_p.H337H|ZFX_ENST00000304543.5_Silent_p.H566H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	566					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						TCAAAAAGCACATGAGAATCC	0.453																																					p.H566H	Esophageal Squamous(20;306 562 7346 32868 37983)												.	.			0			c.C1698T												109	99	103					X																	24228773		2203	4300	6503	SO:0001819	synonymous_variant	7543	exon10			AAAGCACATGAGA		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.1698C>T	X.37:g.24228773C>T			166	0	0		151	0.13	20	NM_003410	25	0.24	6	B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	CCDS14211.1																																																																																					0.453	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056084.1		NM_003410		T	24228773	C	T	24228773	2	4	61	1	0	0	0	0	0	0	0	1	17684	477	17	3		3	ZFX	23	24228773	Silent	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10		24228773	131041787	68	4414											
DDX3X	1654	hgsc.bcm.edu;broad.mit.edu	37	chrX	41204800	41204801	+	Splice_Site	INS	-	-	G																															ttgacctcctaaatgcaacaINSggtaacattatgaatttttt																										TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chrX:41204800_41204801insG	ENST00000399959.2	+	12	2169_2170	c.1314_1315insG	c.(1315-1317)ggc>Gggc	p.G439fs	DDX3X_ENST00000542215.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000457138.2_Splice_Site_p.G423fs|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	439	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TAAATGCAACAGGTAACATTAT	0.411										HNSCC(61;0.18)																											p.T438fs													.	DDX3X	138		0			c.1314_1315insG																																									SO:0001630	splice_region_variant	1654	exon12			TGCAACAGGTAAC	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1315+1->G	X.37:g.41204802_41204802dupG			226	0	0		214	0.14	30	NM_001356	196	0	0	A8K538|B4E3E8|O15536	Frame_Shift_Ins	INS	ENST00000399959.2	37	CCDS43931.1																																																																																					0.411	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056253.1		NM_024005	Frame_Shift_Ins	G	41204801	-	G	41204800	8	5	61	1	0	1	1	0	0	0	1	0	4360	202	7	0	1360	0	DDX3X	23	41204800	Splice_Site	INS	-	TCGA-2G-AAKO-01A-11D-A42Y-10	16976027	41204800	114065760	69	4415											
TEX13A	56157	mdanderson.org	37	chrX	104464815	104464815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagccgtgcagccaccgcacCctgtgcctttgtagctgtgc	6	9	11	15	2	0	0	0	0	0	0	0	0	0	0	5	0	6	4	5	0	2	2			TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chrX:104464815C>T	ENST00000413579.1	-	2	378	c.267G>A	c.(265-267)agG>agA	p.R89R	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.R89R|TEX13A_ENST00000372575.1_Silent_p.R89R|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	89							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCACCGCACCCTGTGCCTTT	0.627																																					p.R89R													.	.			0			c.G267A												32	33	32					X																	104464815		2203	4292	6495	SO:0001819	synonymous_variant	56157	exon2			CCGCACCCTGTGC	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.267G>A	X.37:g.104464815C>T			37	0	0		39	0.08	3	NM_031274	0		0	B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37																																																																																						0.627	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_031274		T	104464815	C	T	104464815	2	4	61	1	0	0	0	0	0	0	0	1	15799	622	22	3		3	TEX13A	23	104464815	Silent	SNP	C	TCGA-2G-AAKO-01A-11D-A42Y-10	63260015	104464815	50805745	70	4416											
HCFC1	3054	mdanderson.org	37	chrX	153223524	153223524	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcttcaccagggtgatGgtcttggtgaccccgcccac	5	9	13	14	1	3	2	1	2	2	0	3	2	3	2	4	4	0	1	4	4	0	2	rs370251100		TCGA-2G-AAKO-01A-11D-A42Y-10	TCGA-2G-AAKO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f5020af-426f-498a-8b86-56a7cbd58bc9	ca26dacd-984e-46b3-ad5e-671c3c639fbf	g.chrX:153223524G>T	ENST00000310441.7	-	11	2946	c.1980C>A	c.(1978-1980)acC>acA	p.T660T	HCFC1_ENST00000369984.4_Silent_p.T660T|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Silent_p.T591T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	660	Interaction with SIN3A.				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)					CCAGGGTGATGGTCTTGGTGA	0.622																																					p.T660T													.	.			0			c.C1980A												52	54	53					X																	153223524		2127	4203	6330	SO:0001819	synonymous_variant	3054	exon11			GGTGATGGTCTTG		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.1980C>A	X.37:g.153223524G>T			57	0.0175438596	1		53	0.06	3	NM_005334	64	0	0	Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1																																																																																					0.622	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061099.4		NM_005334		T	153223524	G	T	153223524	2	4	61	1	0	0	0	0	0	0	0	1	7006	1335	47	3		3	HCFC1	23	153223524	Silent	SNP	G	TCGA-2G-AAKO-01A-11D-A42Y-10	48758709	153223524	2047036	71	4417											
TIE1	7075	broad.mit.edu	37	chr1	43779569	43779569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcaccatcctggctgcccTtttaaccctggtgtgcatcc	5	12	7	17	0	1	0	1	0	0	0	3	0	3	0	6	2	3	2	6	2	1	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr1:43779569T>C	ENST00000372476.3	+	14	2418	c.2339T>C	c.(2338-2340)cTt>cCt	p.L780P	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L425P	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	780					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)				CTGGCTGCCCTTTTAACCCTG	0.647																																					p.L780P													.	TIE1	132		0			c.T2339C												77	71	73					1																	43779569		2203	4300	6503	SO:0001583	missense	7075	exon14			CTGCCCTTTTAAC	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.2339T>C	1.37:g.43779569T>C	ENSP00000361554:p.Leu780Pro		66	0	0		117	0.03	3	NM_005424	67	0	0	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711650	0.68730	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.79141	-1.2;-1.24	5.73	5.73	0.89815	.	0.000000	0.36167	N	0.002758	D	0.83774	0.5327	L	0.39898	1.24	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;0.998;0.998;0.998	D	0.85414	0.1139	10	0.72032	D	0.01	.	15.6798	0.77357	0.0:0.0:0.0:1.0	.	425;735;425;780	E9PG63;B4DTW8;B4DKW0;P35590	.;.;.;TIE1_HUMAN	P	780;183;63;425	ENSP00000361554:L780P;ENSP00000411728:L425P	ENSP00000361553:L183P	L	+	2	0	TIE1	43552156	1.000000	0.71417	0.276000	0.24689	0.200000	0.23975	7.594000	0.82698	2.187000	0.69744	0.533000	0.62120	CTT			0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019011.1		NM_005424		C	43779569	T	C	43779569	3	2	62	1	0	0	0	0	1	0	0	0	15916	1609	56	4	2393	4	TIE1	1	43779569	Missense_Mutation	SNP	T	TCGA-2G-AAL5-01A-11D-A42Y-10		43779569	205471052	1	4418											
LRRC8B	23507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	90058405	90058405	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaaaatagcttgatgAatttgtcccctcatgtgggt	10	13	12	6	0	1	2	1	2	0	0	2	3	2	3	2	3	1	1	2	3	4	3	rs201504233		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr1:90058405A>T	ENST00000330947.2	+	6	2575	c.2215A>T	c.(2215-2217)Aat>Tat	p.N739Y	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.N739Y|LRRC8B_ENST00000439853.1_Missense_Mutation_p.N739Y	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	739					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)		TAGCTTGATGAATTTGTCCCC	0.433																																					p.N739Y													.	.			0			c.A2215T												119	113	115					1																	90058405		2203	4300	6503	SO:0001583	missense	23507	exon6			TTGATGAATTTGT	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.2215A>T	1.37:g.90058405A>T	ENSP00000332674:p.Asn739Tyr		70	0	0		138	0.23	32	NM_015350	26	0.31	8	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	CCDS724.1	.	.	.	.	.	.	.	.	.	.	A	9.623	1.134476	0.21123	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.00986	5.47;5.47;5.47	5.94	3.7	0.42460	.	0.635976	0.15743	N	0.246829	T	0.00328	0.0010	L	0.38175	1.15	0.20873	N	0.999833	B	0.19583	0.037	B	0.16289	0.015	T	0.46884	-0.9159	9	.	.	.	.	5.1045	0.14777	0.5932:0.1447:0.2621:0.0	.	739	Q6P9F7	LRC8B_HUMAN	Y	739	ENSP00000332674:N739Y;ENSP00000350933:N739Y;ENSP00000400704:N739Y	.	N	+	1	0	LRRC8B	89830993	0.985000	0.35326	0.951000	0.38953	0.997000	0.91878	1.148000	0.31614	0.560000	0.29169	0.455000	0.32223	AAT	0.001		0.433	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000028008.1		NM_015350		T	90058405	A	T	90058405	3	4	62	1	0	0	0	0	1	0	0	0	9038	246	9	5	2221	5	LRRC8B	1	90058405	Missense_Mutation	SNP	A	TCGA-2G-AAL5-01A-11D-A42Y-10	46278836	90058405	159192216	2	4419											
FLAD1	80308	broad.mit.edu	37	chr1	154962054	154962054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtcttctttggggaaaaAggtggcaggtgccctacaga	10	9	15	7	0	2	1	0	0	2	1	2	2	2	2	1	6	2	1	1	6	3	3			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr1:154962054A>G	ENST00000292180.3	+	3	1458	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R	FLAD1_ENST00000315144.10_Missense_Mutation_p.K282R|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368432.1_Missense_Mutation_p.K282R|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368433.1_Missense_Mutation_p.K379R|FLAD1_ENST00000368428.1_5'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	379					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			TTGGGGAAAAAGGTGGCAGGT	0.567																																					p.K379R													FLAD1,right_upper_lobe,carcinoma,0,1	FLAD1	52	1	0			c.A1136G												96	94	95					1																	154962054		2203	4300	6503	SO:0001583	missense	80308	exon3			GGAAAAAGGTGGC		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1136A>G	1.37:g.154962054A>G	ENSP00000292180:p.Lys379Arg		40	0	0		119	0.03	4	NM_025207	138	0	0	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721895	0.48728	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000292180	.	.	.	5.31	5.31	0.75309	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	L	0.49350	1.555	0.80722	D	1	B	0.27656	0.184	B	0.25506	0.061	T	0.39418	-0.9615	9	0.25751	T	0.34	-30.8648	15.1009	0.72276	1.0:0.0:0.0:0.0	.	379	Q8NFF5	FAD1_HUMAN	R	379;282;282;379	.	ENSP00000292180:K379R	K	+	2	0	FLAD1	153228678	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.953000	0.75995	2.236000	0.73375	0.533000	0.62120	AAG			0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000091089.1		NM_025207		G	154962054	A	G	154962054	3	3	62	1	0	0	0	0	1	0	0	0	5933	72	3	4	1286	4	FLAD1	1	154962054	Missense_Mutation	SNP	A	TCGA-2G-AAL5-01A-11D-A42Y-10	64903649	154962054	94288567	3	4420											
ETV3	2117	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr1	157094985	157094985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcctccttctctcgtgccGactgcctgaggctctcagga	4	11	10	16	2	2	1	1	1	2	0	7	3	4	2	4	2	2	2	4	2	0	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr1:157094985G>A	ENST00000368192.4	-	5	1251	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L		NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	396					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CTCTCGTGCCGACTGCCTGAG	0.562																																					p.S396L													.	.			0			c.C1187T												119	101	106					1																	157094985		692	1591	2283	SO:0001583	missense	2117	exon5			CGTGCCGACTGCC	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.1187C>T	1.37:g.157094985G>A	ENSP00000357175:p.Ser396Leu		55	0	0		92	0.05	5	NM_001145312	45	0	0	B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	G	5.399	0.258799	0.10239	.	.	ENSG00000117036	ENST00000368192	T	0.35048	1.33	3.84	2.89	0.33648	.	3.991400	0.00610	N	0.000413	T	0.15349	0.0370	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13202	-1.0518	10	0.22706	T	0.39	.	10.4377	0.44445	0.106:0.0:0.894:0.0	.	396	P41162	ETV3_HUMAN	L	396	ENSP00000357175:S396L	ENSP00000357175:S396L	S	-	2	0	ETV3	155361609	0.001000	0.12720	0.018000	0.16275	0.163000	0.22366	1.080000	0.30779	1.133000	0.42147	0.561000	0.74099	TCG			0.562	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082843.2		NM_005240		A	157094985	G	A	157094985	3	1	62	1	0	0	0	0	1	0	0	0	5286	1059	37	1	355	1	ETV3	1	157094985	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	2132931	157094985	92155636	4	4421											
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	176853487	176853487	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcacctgtctccacttTggagtggtccatcctgtcag	5	13	10	13	0	3	0	2	0	1	0	6	1	5	1	4	2	1	1	4	2	0	1	rs558363072		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr1:176853487T>A	ENST00000367654.3	-	19	3449	c.3238A>T	c.(3238-3240)Aaa>Taa	p.K1080*	ASTN1_ENST00000367657.3_Nonsense_Mutation_p.K1072*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.K1072*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.K1072*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1080	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						GTCTCCACTTTGGAGTGGTCC	0.493																																					p.K1072X													.	.			0			c.A3214T												154	128	137					1																	176853487		2203	4300	6503	SO:0001587	stop_gained	460	exon19			CCACTTTGGAGTG	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.3238A>T	1.37:g.176853487T>A	ENSP00000356626:p.Lys1080*		84	0	0		167	0.25	42	NM_004319	28	0	0	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	T	42	9.271808	0.99120	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-24.0685	15.7969	0.78420	0.0:0.0:0.0:1.0	.	.	.	.	X	1072;1072;1080;1072;1072	.	ENSP00000354536:K1072X	K	-	1	0	ASTN1	175120110	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.427000	0.80284	2.207000	0.71202	0.533000	0.62120	AAA			0.493	ASTN1-201	KNOWN	basic	protein_coding	protein_coding				NM_004319		A	176853487	T	A	176853487	4	1	62	1	0	0	0	0	0	1	0	0	1064	1821	63	5	694	5	ASTN1	1	176853487	Nonsense_Mutation	SNP	T	TCGA-2G-AAL5-01A-11D-A42Y-10	19758502	176853487	72397134	5	4422											
PRG4	10216	bcgsc.ca	37	chr1	186276165	186276166	+	Missense_Mutation	DNP	CA	CA	TG																															cccaaggagcctgcacccacCacccccaagaagcctgcccc																										TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	CA	CA					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr1:186276165_186276166CA>TG	ENST00000445192.2	+	7	1359_1360	c.1314_1315CA>TG	c.(1312-1317)acCAcc>acTGcc	p.T439A	PRG4_ENST00000367486.3_Missense_Mutation_p.T396A|PRG4_ENST00000367485.4_Missense_Mutation_p.T346A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T398A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	439	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGAA	0.653																																					p.T439A													.	PRG4	259		0			c.A1315G																																									SO:0001583	missense	23572	exon7			ACCCACCACCCCC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	Exception_encountered	1.37:g.186276165_186276166delinsTG	ENSP00000399679:p.Thr439Ala		51	0	0		76	0.11	8	NM_005807	6	0	0	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	DNP	ENST00000445192.2	37	CCDS1369.1																																																																																					0.653	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000086346.1		NM_005807		TG	186276166	CA	TG	186276165	3	4	62	1	0	0	0	0	1	0	0	0	12501	581	21	3	1336	3	PRG4	1	186276165	Missense_Mutation	DNP	CA	TCGA-2G-AAL5-01A-11D-A42Y-10	9422678	186276165	62974456	6	4423											
SOX13	9580	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	204092277	204092277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccccagccaaggagcGgctggaggacggctgtgtgc	7	6	15	13	2	1	0	1	0	0	0	2	3	2	3	3	5	3	2	3	5	1	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr1:204092277G>T	ENST00000367204.1	+	11	1281	c.1172G>T	c.(1171-1173)cGg>cTg	p.R391L		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	391					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCAAGGAGCGGCTGGAGGAC	0.637																																					p.R391L													.	.			0			c.G1172T												88	96	93					1																	204092277		2121	4245	6366	SO:0001583	missense	9580	exon11			AGGAGCGGCTGGA		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1172G>T	1.37:g.204092277G>T	ENSP00000356172:p.Arg391Leu		98	0	0		137	0.6	82	NM_005686	112	0.52	58	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114380	0.56505	.	.	ENSG00000143842	ENST00000367204	D	0.97906	-4.6	5.18	5.18	0.71444	.	0.526322	0.20155	N	0.098075	D	0.94394	0.8197	L	0.54323	1.7	0.33450	D	0.583601	B;P;B	0.44090	0.304;0.826;0.304	B;B;B	0.35278	0.1;0.199;0.1	D	0.94319	0.7552	10	0.26408	T	0.33	.	7.9084	0.29776	0.082:0.0:0.7568:0.1612	.	258;258;391	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	L	391	ENSP00000356172:R391L	ENSP00000356172:R391L	R	+	2	0	SOX13	202358900	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.319000	0.51983	2.411000	0.81874	0.563000	0.77884	CGG			0.637	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087881.2		NM_005686		T	204092277	G	T	204092277	3	4	62	1	0	0	0	0	1	0	0	0	14967	1116	39	1	1210	1	SOX13	1	204092277	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	17816112	204092277	45158344	7	4424											
MERTK	10461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	112760766	112760766	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaaattctgggtgaaggTaagcaatttaaagtaattct	16	12	10	3	0	2	1	0	1	2	0	2	2	2	2	0	3	1	3	0	3	8	6			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr2:112760766T>C	ENST00000295408.4	+	12	2043		c.e12+2		MERTK_ENST00000409780.1_Splice_Site|MERTK_ENST00000421804.2_Splice_Site			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase						apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGGGTGAAGGTAAGCAATTTA	0.308																																					.													.	.			0			c.1786+2T>C												69	78	75					2																	112760766		2203	4297	6500	SO:0001630	splice_region_variant	10461	exon12			TGAAGGTAAGCAA	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1786+2T>C	2.37:g.112760766T>C			114	0	0		160	0.26	42	NM_006343	6	0	0	Q9HBB4	Splice_Site	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289365	0.40494	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3516	0.66705	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MERTK	112477237	1.000000	0.71417	0.998000	0.56505	0.396000	0.30629	6.221000	0.72243	2.027000	0.59764	0.523000	0.50628	.			0.308	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254046.2			Intron	C	112760766	T	C	112760766	5	2	62	1	0	0	0	0	0	0	1	0	9495	1652	57	4	1834	4	MERTK	2	112760766	Splice_Site	SNP	T	TCGA-2G-AAL5-01A-11D-A42Y-10		112760766	130438607	8	4425											
NFE2L2	4780	bcgsc.ca	37	chr2	178129282	178129282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggacgggagtcccggcGgcggcagctccaagtccatc	6	5	16	14	4	0	0	0	0	0	0	4	2	3	2	3	5	1	3	3	5	1	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr2:178129282G>T	ENST00000397062.3	-	1	577	c.23C>A	c.(22-24)cCg>cAg	p.P8Q	NFE2L2_ENST00000423513.1_5'Flank|AC079305.10_ENST00000428541.1_RNA|NFE2L2_ENST00000446151.2_5'Flank|NFE2L2_ENST00000464747.1_Intron|NFE2L2_ENST00000397063.4_5'Flank	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	8					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAGTCCCGGCGGCGGCAGCTC	0.761			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																											p.P8Q				Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	.	NFE2L2	225		0			c.C23A												6	11	9					2																	178129282		1463	3360	4823	SO:0001583	missense	4780	exon1			CCCGGCGGCGGCA		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.23C>A	2.37:g.178129282G>T	ENSP00000380252:p.Pro8Gln		61	0	0		65	0.06	4	NM_006164	39	0	0	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.037082	0.19669	.	.	ENSG00000116044	ENST00000397062;ENST00000430047	T;T	0.63255	1.66;-0.03	3.85	2.95	0.34219	.	0.415950	0.18985	U	0.125775	T	0.48429	0.1499	L	0.51422	1.61	0.80722	D	1	P	0.39157	0.662	B	0.34138	0.176	T	0.49031	-0.8981	10	0.38643	T	0.18	.	6.3824	0.21542	0.1328:0.0:0.8672:0.0	.	8	Q16236	NF2L2_HUMAN	Q	8	ENSP00000380252:P8Q;ENSP00000391291:P8Q	ENSP00000380252:P8Q	P	-	2	0	NFE2L2	177837528	1.000000	0.71417	0.992000	0.48379	0.088000	0.18126	1.244000	0.32778	2.084000	0.62774	0.460000	0.39030	CCG			0.761	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000257752.4		NM_006164		T	178129282	G	T	178129282	3	4	62	1	0	0	0	0	1	0	0	0	10385	1116	39	1	1814	1	NFE2L2	2	178129282	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	65368516	178129282	65070091	9	4426											
NEU4	129807	mdanderson.org	37	chr2	242757880	242757880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaacccccagaggaggctGctgtagacccccgtggaggc	9	4	14	14	2	0	2	0	0	0	2	0	5	0	4	4	4	2	3	4	4	2	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr2:242757880G>A	ENST00000391969.2	+	5	1672	c.961G>A	c.(961-963)Gct>Act	p.A321T	NEU4_ENST00000407683.1_Missense_Mutation_p.A321T|NEU4_ENST00000325935.6_Missense_Mutation_p.A334T|NEU4_ENST00000404257.1_Missense_Mutation_p.A333T|NEU4_ENST00000405370.1_Missense_Mutation_p.A321T	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	321	Pro-rich.				ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		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;0.0825)		AGAGGAGGCTGCTGTAGACCC	0.711																																					p.A334T													.	.			0			c.G1000A												13	15	14					2																	242757880		2097	4116	6213	SO:0001583	missense	129807	exon4			GAGGCTGCTGTAG	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.961G>A	2.37:g.242757880G>A	ENSP00000375830:p.Ala321Thr		33	0	0		31	0.1	3	NM_001167599	1	0	0	A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	G	7.023	0.559074	0.13436	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	T;T;T;T;T	0.75938	-0.97;-0.97;-0.97;-0.97;-0.98	3.61	-1.25	0.09405	Neuraminidase (1);	2.313250	0.01622	N	0.023051	T	0.49830	0.1580	N	0.08118	0	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	0.41360	-0.9513	10	0.09338	T	0.73	-0.0014	4.0136	0.09634	0.5297:0.0:0.297:0.1733	.	333;333;321	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	T	321;321;331;333;321;334	ENSP00000385402:A321T;ENSP00000384804:A321T;ENSP00000385149:A333T;ENSP00000375830:A321T;ENSP00000320318:A334T	ENSP00000320318:A334T	A	+	1	0	NEU4	242406553	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.149000	0.11215	-0.529000	0.04317	GCT			0.711	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257270.2		NM_080741		A	242757880	G	A	242757880	3	1	62	1	0	0	0	0	1	0	0	0	10361	1319	46	2	1014	2	NEU4	2	242757880	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	64628598	242757880	441493	10	4427											
SCN10A	6336	mdanderson.org	37	chr3	38805080	38805080	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagatctattgctgtgcCaacatatctgtaggaccaga	12	10	10	9	1	2	2	0	0	2	2	2	4	2	3	2	2	3	2	2	2	4	4			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr3:38805080C>A	ENST00000449082.2	-	5	606	c.607G>T	c.(607-609)Ggc>Tgc	p.G203C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	203					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)	ATTGCTGTGCCAACATATCTG	0.463																																					p.G203C													.	.			0			c.G607T												120	115	117					3																	38805080		2203	4300	6503	SO:0001583	missense	6336	exon5			CTGTGCCAACATA	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.607G>T	3.37:g.38805080C>A	ENSP00000390600:p.Gly203Cys		23	0	0		22	0.09	2	NM_006514	0		0	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769649	0.31320	.	.	ENSG00000185313	ENST00000449082	D	0.98550	-4.99	4.66	3.77	0.43336	Ion transport (1);	0.305459	0.29558	U	0.011809	D	0.98507	0.9502	M	0.80332	2.49	0.21527	N	0.999653	D	0.71674	0.998	D	0.70227	0.968	D	0.94701	0.7883	10	0.87932	D	0	.	8.1967	0.31400	0.158:0.7632:0.0:0.0787	.	203	Q9Y5Y9	SCNAA_HUMAN	C	203	ENSP00000390600:G203C	ENSP00000390600:G203C	G	-	1	0	SCN10A	38780084	0.058000	0.20735	0.004000	0.12327	0.083000	0.17756	1.685000	0.37659	1.287000	0.44583	0.650000	0.86243	GGC			0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109745.3		NM_006514		A	38805080	C	A	38805080	3	1	62	1	0	0	0	0	1	0	0	0	13935	594	21	3	5355	3	SCN10A	3	38805080	Missense_Mutation	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10		38805080	159217350	11	4428											
GNL3	26354	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	52721395	52721396	+	Frame_Shift_Del	DEL	AG	AG	-																															ggaagctgagctaaggaaacAgagggtaagttatgttagcc																										TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr3:52721395_52721396delAG	ENST00000418458.1	+	3	379_380	c.206_207delAG	c.(205-207)cagfs	p.Q69fs	SNORD19B_ENST00000516978.1_RNA|GNL3_ENST00000460073.1_3'UTR|SNORD19_ENST00000391191.1_RNA|GNL3_ENST00000394799.2_Frame_Shift_Del_p.Q57fs|PBRM1_ENST00000394830.3_5'Flank	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	69					cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CTAAGGAAACAGAGGGTAAGTT	0.436																																					p.69_69del													.,1	GNL3	37		0			c.205_206del																																									SO:0001589	frameshift_variant	26354	exon3			GGAAACAGAGGGT	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.206_207delAG	3.37:g.52721397_52721398delAG	ENSP00000395772:p.Gln69fs		183	0	0		230	0.29	66	NM_014366	291	0	0	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Frame_Shift_Del	DEL	ENST00000418458.1	37	CCDS2861.1																																																																																					0.436	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352032.1		NM_014366		-	52721396	AG	-	52721395	7	5	62	1	0	1	0	1	0	0	0	0	6551	188	7	0	216	0	GNL3	3	52721395	Frame_Shift_Del	DEL	AG	TCGA-2G-AAL5-01A-11D-A42Y-10	13916315	52721395	145301035	12	4429											
SEMA5B	54437	broad.mit.edu;mdanderson.org	37	chr3	122631795	122631795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacgttctcttgcggacgcGgaagcccagctcgcagtccc	6	7	12	16	5	1	0	0	0	1	0	4	2	2	2	2	2	3	4	2	2	1	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr3:122631795G>A	ENST00000357599.3	-	18	3006	c.2620C>T	c.(2620-2622)Cgc>Tgc	p.R874C	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R928C|SEMA5B_ENST00000195173.4_Missense_Mutation_p.R873C	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	874	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGCGGACGCGGAAGCCCAGC	0.731																																					p.R928C													.	SEMA5B	303		0			c.C2782T												22	28	26					3																	122631795		2201	4297	6498	SO:0001583	missense	54437	exon18			GGACGCGGAAGCC	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2620C>T	3.37:g.122631795G>A	ENSP00000350215:p.Arg874Cys		77	0	0		104	0.27	28	NM_001256347	57	0.3	17	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577006	0.86645	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.01	5.01	0.66863	.	0.188742	0.46442	D	0.000297	T	0.78149	0.4238	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	T	0.83357	-0.0000	10	0.87932	D	0	.	13.0399	0.58893	0.0:0.0:0.8283:0.1717	.	816;874	D3YTI7;Q9P283	.;SEM5B_HUMAN	C	874;873;816;928;874	ENSP00000350215:R874C;ENSP00000195173:R873C;ENSP00000389588:R928C;ENSP00000377208:R874C	ENSP00000195173:R873C	R	-	1	0	SEMA5B	124114485	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.201000	0.58439	2.616000	0.88540	0.655000	0.94253	CGC			0.731	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000277165.1		NM_001031702		A	122631795	G	A	122631795	3	1	62	1	0	0	0	0	1	0	0	0	14061	1116	39	1	859	1	SEMA5B	3	122631795	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	69910400	122631795	75390635	13	4430											
ANKH	56172	mdanderson.org	37	chr5	14746005	14746005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcaggatacacagcacGgatttccgtcaaccagccgt	13	6	10	12	3	1	0	1	0	0	0	2	3	2	2	3	2	5	2	3	2	3	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr5:14746005G>T	ENST00000284268.6	-	7	1219	c.889C>A	c.(889-891)Cgt>Agt	p.R297S	ANKH_ENST00000535119.1_Missense_Mutation_p.R99S|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	297					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TACACAGCACGGATTTCCGTC	0.517																																					p.R297S													.	.			0			c.C889A												130	115	120					5																	14746005		2203	4300	6503	SO:0001583	missense	56172	exon7			CAGCACGGATTTC	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.889C>A	5.37:g.14746005G>T	ENSP00000284268:p.Arg297Ser		61	0	0		52	0.06	3	NM_054027	31	0	0	B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451659	0.84209	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.94497	-3.44;-3.44	5.65	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.96119	0.8735	L	0.56769	1.78	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.95813	0.8843	10	0.72032	D	0.01	-34.1112	13.8574	0.63537	0.0:0.0:0.7875:0.2125	.	297	Q9HCJ1	ANKH_HUMAN	S	99;297	ENSP00000442524:R99S;ENSP00000284268:R297S	ENSP00000284268:R297S	R	-	1	0	ANKH	14799005	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.736000	0.55052	2.824000	0.97209	0.655000	0.94253	CGT			0.517	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207063.1		NM_054027		T	14746005	G	T	14746005	3	4	62	1	0	0	0	0	1	0	0	0	627	1116	39	1	613	1	ANKH	5	14746005	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		14746005	166169255	14	4431											
FTMT	94033	mdanderson.org	37	chr5	121187745	121187745	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgctgcttcgcgctcccGctgcgttgggccccggggcg	0	8	16	17	7	0	0	0	0	0	0	2	0	1	0	3	3	3	6	3	3	0	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr5:121187745G>T	ENST00000321339.1	+	1	96	c.87G>T	c.(85-87)ccG>ccT	p.P29P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	29					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCGCGCTCCCGCTGCGTTGGG	0.756																																					p.P29P													.	.			0			c.G87T												11	13	12					5																	121187745		2186	4268	6454	SO:0001819	synonymous_variant	94033	exon1			GCTCCCGCTGCGT	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.87G>T	5.37:g.121187745G>T			15	0	0		17	0.18	3	NM_177478	0		0		Silent	SNP	ENST00000321339.1	37	CCDS4128.1																																																																																					0.756	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250884.1		NM_177478		T	121187745	G	T	121187745	2	4	62	1	0	0	0	0	0	0	0	1	6098	1074	38	1		1	FTMT	5	121187745	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	106441740	121187745	59727515	15	4432											
TCOF1	6949	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	149767638	149767638	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgatccccgctacacaGtgcttgactcctggtgagcg	7	9	12	13	3	0	3	0	3	0	0	2	4	2	3	3	1	3	2	3	1	1	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr5:149767638G>A	ENST00000504761.2	+	18	3033	c.3033G>A	c.(3031-3033)caG>caA	p.Q1011Q	TCOF1_ENST00000513346.1_Silent_p.Q1048Q|TCOF1_ENST00000377797.3_Silent_p.Q1011Q|TCOF1_ENST00000439160.2_Silent_p.Q1011Q|TCOF1_ENST00000323668.7_Silent_p.Q934Q|TCOF1_ENST00000445265.2_Silent_p.Q934Q|TCOF1_ENST00000451292.1_Silent_p.Q1048Q			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1011					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGCTACACAGTGCTTGACTC	0.652																																					p.Q1011Q													.	.			0			c.G3033A												49	46	47					5																	149767638		2203	4300	6503	SO:0001819	synonymous_variant	6949	exon18			TACACAGTGCTTG		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3033G>A	5.37:g.149767638G>A			155	0	0		156	0.04	7	NM_001135243	116	0.09	10	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	CCDS54936.1																																																																																					0.652	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000380552.1		NM_001008656		A	149767638	G	A	149767638	2	1	62	1	0	0	0	0	0	0	0	1	15731	1020	36	3		3	TCOF1	5	149767638	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	28579893	149767638	31147622	16	4433											
DSP	1832	bcgsc.ca	37	chr6	7583862	7583862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatagagaaaccggaatgCgcctgctggaagcccagatt	12	8	12	9	2	0	3	0	1	0	2	0	6	0	5	3	2	4	1	3	2	4	3	rs372242085		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr6:7583862C>T	ENST00000379802.3	+	24	6708	c.6367C>T	c.(6367-6369)Cgc>Tgc	p.R2123C	DSP_ENST00000418664.2_Missense_Mutation_p.R1524C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2123	4.5 X 38 AA tandem repeats (Domain A).|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)		AACCGGAATGCGCCTGCTGGA	0.458													C|||	0	0	0	0	5008	,	,		19716	0		0	False		,,,				2504	0				p.R2123C													DSP,colon,carcinoma,0,1	DSP	306	1	0			c.C6367T							C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	60	67	65		4570,6367	5.2	1	6		65	0,8600		0,0,4300	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	1524/2273,2123/2872	7583862	2,13004	2203	4300	6503	SO:0001583	missense	1832	exon24			GGAATGCGCCTGC	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.6367C>T	6.37:g.7583862C>T	ENSP00000369129:p.Arg2123Cys		42	0	0		47	0.09	4	NM_004415	98	0	0	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551168	0.86127	4.54E-4	0.0	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.80214	-1.35;-1.35	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000011	D	0.89949	0.6863	M	0.86740	2.835	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89400	0.3695	10	0.44086	T	0.13	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	1571;2123	Q4LE79;P15924	.;DESP_HUMAN	C	2123;1524	ENSP00000369129:R2123C;ENSP00000396591:R1524C	ENSP00000369129:R2123C	R	+	1	0	DSP	7528861	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.776000	0.85560	2.595000	0.87683	0.655000	0.94253	CGC			0.458	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039786.2		NM_004415		T	7583862	C	T	7583862	3	4	62	1	0	0	0	0	1	0	0	0	4786	768	27	1	6461	1	DSP	6	7583862	Missense_Mutation	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10		7583862	163531205	17	4434											
SPACA1	81833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	88757823	88757823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaactacgctccgcctgaaaCcgaggatggtgagggcggga	10	5	16	10	4	0	2	0	2	0	0	1	6	1	4	3	4	3	1	3	4	3	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr6:88757823C>A	ENST00000237201.1	+	1	317	c.200C>A	c.(199-201)aCc>aAc	p.T67N		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	67					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		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;0.11)		CCGCCTGAAACCGAGGATGGT	0.637																																					p.T67N													.	.			0			c.C200A												45	30	35					6																	88757823		2192	4287	6479	SO:0001583	missense	81833	exon1			CTGAAACCGAGGA	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.200C>A	6.37:g.88757823C>A	ENSP00000237201:p.Thr67Asn		96	0	0		107	0.29	31	NM_030960	0		0		Missense_Mutation	SNP	ENST00000237201.1	37	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	C	4.421	0.077867	0.08485	.	.	ENSG00000118434	ENST00000237201	T	0.26518	1.73	3.79	2.03	0.26663	.	1.944940	0.02991	N	0.146816	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.32160	0.358	B	0.25291	0.059	T	0.22347	-1.0219	10	0.25106	T	0.35	15.4741	6.2772	0.20987	0.0:0.7736:0.0:0.2264	.	67	Q9HBV2	SACA1_HUMAN	N	67	ENSP00000237201:T67N	ENSP00000237201:T67N	T	+	2	0	SPACA1	88814542	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	0.028000	0.13644	0.605000	0.29947	-1.214000	0.01621	ACC			0.637	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041459.1				A	88757823	C	A	88757823	3	1	62	1	0	0	0	0	1	0	0	0	14995	507	18	3	202	3	SPACA1	6	88757823	Missense_Mutation	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	81173961	88757823	82357244	18	4435											
CHST12	55501	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	2472936	2472936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcaacaagttctggcGccgctacgggaagctctccc	8	8	10	15	3	3	0	1	0	2	0	4	2	3	1	3	2	3	3	3	2	4	3			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr7:2472936G>T	ENST00000258711.6	+	2	797	c.662G>T	c.(661-663)cGc>cTc	p.R221L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	221					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		AAGTTCTGGCGCCGCTACGGG	0.657																																					p.R221L													.	CHST12	39		0			c.G662T												50	40	43					7																	2472936		2203	4296	6499	SO:0001583	missense	55501	exon2			TCTGGCGCCGCTA	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.662G>T	7.37:g.2472936G>T	ENSP00000258711:p.Arg221Leu		28	0	0		42	0.1	4	NM_018641	62	0	0	A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011514	0.75046	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.73681	-0.77;-0.77	5.1	5.1	0.69264	.	0.149152	0.41294	D	0.000917	T	0.78966	0.4367	L	0.52206	1.635	0.53005	D	0.999963	P	0.51351	0.944	P	0.53102	0.718	T	0.77910	-0.2411	10	0.37606	T	0.19	-0.6889	18.5015	0.90882	0.0:0.0:1.0:0.0	.	221	Q9NRB3	CHSTC_HUMAN	L	221	ENSP00000258711:R221L;ENSP00000411207:R221L	ENSP00000258711:R221L	R	+	2	0	CHST12	2439462	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.621000	0.61233	2.382000	0.81193	0.462000	0.41574	CGC			0.657	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060170.3		NM_018641		T	2472936	G	T	2472936	3	4	62	1	0	0	0	0	1	0	0	0	3402	1087	38	1	664	1	CHST12	7	2472936	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		2472936	156665727	19	4436											
FAM126A	84668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	23016321	23016321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtataccgattctgtGctgtcagcatctccctttga	8	13	7	13	1	3	1	1	1	2	0	4	2	3	1	3	0	3	3	3	0	2	4			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr7:23016321G>A	ENST00000432176.2	-	6	753	c.521C>T	c.(520-522)gCa>gTa	p.A174V	FAM126A_ENST00000409923.1_Missense_Mutation_p.A174V	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	174					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCGATTCTGTGCTGTCAGCAT	0.378																																					p.A174V													.	.			0			c.C521T												87	80	82					7																	23016321		2203	4300	6503	SO:0001583	missense	84668	exon6			TTCTGTGCTGTCA	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.521C>T	7.37:g.23016321G>A	ENSP00000403396:p.Ala174Val		81	0	0		113	0.26	29	NM_032581	9	0.44	4	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	CCDS5377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.386374|5.386374	0.95967|0.95967	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000432176;ENST00000409923|ENST00000440481	D;D|.	0.82167|.	-1.58;-1.58|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83487|0.83487	0.5265|0.5265	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	P;D|.	0.53151|.	0.73;0.958|.	P;P|.	0.54590|.	0.612;0.756|.	D|D	0.83927|0.83927	0.0304|0.0304	10|5	0.49607|.	T|.	0.09|.	-0.522|-0.522	20.1518|20.1518	0.98089|0.98089	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	174;174|.	B8ZZJ1;Q9BYI3|.	.;HYCCI_HUMAN|.	V|Y	174|226	ENSP00000403396:A174V;ENSP00000386246:A174V|.	ENSP00000386246:A174V|.	A|H	-|-	2|1	0|0	FAM126A|FAM126A	22982846|22982846	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	9.791000|9.791000	0.99081|0.99081	2.772000|2.772000	0.95346|0.95346	0.563000|0.563000	0.77884|0.77884	GCA|CAC			0.378	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250230.1		NM_032581		A	23016321	G	A	23016321	3	1	62	1	0	0	0	0	1	0	0	0	5439	1319	46	2	1068	2	FAM126A	7	23016321	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	20543385	23016321	136122342	20	4437											
MUC17	140453	mdanderson.org	37	chr7	100679429	100679429	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagcactccactaacaagtTtgcctgtcagcaccatgctg	11	9	8	13	0	1	0	1	0	0	0	2	1	2	0	3	0	5	4	3	0	3	2	rs140211003		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr7:100679429T>A	ENST00000306151.4	+	3	4796	c.4732T>A	c.(4732-4734)Ttg>Atg	p.L1578M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1578	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)					ACTAACAAGTTTGCCTGTCAG	0.483																																					p.L1578M													.	.			0			c.T4732A												263	247	253					7																	100679429		2203	4300	6503	SO:0001583	missense	140453	exon3			ACAAGTTTGCCTG	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.4732T>A	7.37:g.100679429T>A	ENSP00000302716:p.Leu1578Met		81	0.012345679	1		119	0.08	10	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.434	-0.902014	0.02453	.	.	ENSG00000169876	ENST00000306151	T	0.02395	4.31	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48843	-0.8999	8	0.39692	T	0.17	.	.	.	.	.	1578	Q685J3	MUC17_HUMAN	M	1578	ENSP00000302716:L1578M	ENSP00000302716:L1578M	L	+	1	2	MUC17	100466149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.718000	0.00384	-1.589000	0.01625	-1.617000	0.00794	TTG			0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		A	100679429	T	A	100679429	3	1	62	1	0	0	0	0	1	0	0	0	9990	1838	64	5	4742	5	MUC17	7	100679429	Missense_Mutation	SNP	T	TCGA-2G-AAL5-01A-11D-A42Y-10	77663108	100679429	58459234	21	4438											
ZNF425	155054	broad.mit.edu;bcgsc.ca	37	chr7	148801009	148801009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatgtgttctgtgagccGgtactgttgagtgaaacttt	8	15	12	6	2	1	3	0	3	1	0	2	4	1	3	1	1	3	3	1	1	3	4			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr7:148801009G>A	ENST00000378061.2	-	4	2086	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	652					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTGTGAGCCGGTACTGTTGA	0.537																																					p.R652W													.	ZNF425	99		0			c.C1954T												142	130	134					7																	148801009		2203	4300	6503	SO:0001583	missense	155054	exon4			TGAGCCGGTACTG	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1954C>T	7.37:g.148801009G>A	ENSP00000367300:p.Arg652Trp		81	0	0		105	0.05	5	NM_001001661	21	0	0	B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472865	0.43942	.	.	ENSG00000204947	ENST00000378061	T	0.07800	3.16	3.34	0.982	0.19762	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17916	0.0430	L	0.56396	1.775	0.09310	N	1	D	0.76494	0.999	D	0.65773	0.938	T	0.09574	-1.0668	9	0.59425	D	0.04	.	4.3831	0.11304	0.0:0.1279:0.4576:0.4146	.	652	Q6IV72	ZN425_HUMAN	W	652	ENSP00000367300:R652W	ENSP00000367300:R652W	R	-	1	2	ZNF425	148431942	0.000000	0.05858	0.423000	0.26634	0.928000	0.56348	-3.551000	0.00433	0.480000	0.27534	-0.262000	0.10625	CGG			0.537	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352726.1		XM_088140		A	148801009	G	A	148801009	3	1	62	1	0	0	0	0	1	0	0	0	17922	1115	39	1	308	1	ZNF425	7	148801009	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	48121580	148801009	10337654	22	4439											
SSPO	23145	mdanderson.org	37	chr7	149474749	149474749	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaggggctgtgggccAgctctggagccagcaccagc	6	5	16	14	0	1	0	0	0	1	0	1	1	1	1	4	5	4	4	4	5	0	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr7:149474749A>G	ENST00000378016.2	+	0	548							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)			GCTGTGGGCCAGCTCTGGAGC	0.657																																					p.Q183R													.	.			0			c.A548G												22	26	25					7																	149474749		2026	4174	6200			23145	exon5			TGGGCCAGCTCTG	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.149474749A>G			21	0	0		28	0.11	3	NM_198455	4	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						G	149474749	A	G	149474749	1	3	62	0	1	0	0	0	0	0	0	0	15212	188	7	4		4	SSPO	7	149474749	RNA	SNP	A	TCGA-2G-AAL5-01A-11D-A42Y-10	673740	149474749	9663914	23	4440											
ACCN3	9311	mdanderson.org	37	chr7	150746458	150746458	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctggatgacatgctgctGgactgtcgcttccgtggcca	5	11	12	13	2	0	1	0	1	0	0	3	3	2	3	3	3	2	3	3	3	0	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr7:150746458G>T	ENST00000349064.5	+	1	684	c.486G>T	c.(484-486)ctG>ctT	p.L162L	ASIC3_ENST00000297512.8_Silent_p.L162L|ASIC3_ENST00000357922.4_Silent_p.L162L	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	162					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										ACATGCTGCTGGACTGTCGCT	0.642																																					p.L162L													.	.			0			c.G486T												75	75	75					7																	150746458		2203	4300	6503	SO:0001819	synonymous_variant	9311	exon1			GCTGCTGGACTGT	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.486G>T	7.37:g.150746458G>T			33	0	0		41	0.07	3	NM_020322	20	0	0	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	CCDS5916.1																																																																																					0.642	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351725.1		NM_004769		T	150746458	G	T	150746458	2	4	62	1	0	0	0	0	0	0	0	1	130	1335	47	3		3	ACCN3	7	150746458	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	1271709	150746458	8392205	24	4441											
FASTK	10922	mdanderson.org	37	chr7	150774452	150774452	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtatttctcctcccccagCagctggcgcaacccctcagc	6	8	8	19	2	2	0	1	0	1	0	4	0	3	0	5	2	4	4	5	2	2	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr7:150774452C>A	ENST00000297532.6	-	7	1313	c.1236G>T	c.(1234-1236)ctG>ctT	p.L412L	FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Silent_p.L385L|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000353841.2_Silent_p.L271L|RP11-148K1.12_ENST00000485974.1_RNA	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	412					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)		CCTCCCCCAGCAGCTGGCGCA	0.627																																					p.L412L													.	.			0			c.G1236T												45	50	48					7																	150774452		2203	4300	6503	SO:0001819	synonymous_variant	10922	exon7			CCCCAGCAGCTGG		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.1236G>T	7.37:g.150774452C>A			32	0	0		32	0.09	3	NM_006712	543	0	0	A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	CCDS5918.1																																																																																					0.627	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351832.2		NM_006712		A	150774452	C	A	150774452	2	1	62	1	0	0	0	0	0	0	0	1	5697	697	25	2		2	FASTK	7	150774452	Silent	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	27994	150774452	8364211	25	4442											
MTERFD1	51001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	97263294	97263294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggaggtttgctgcttctgGatgtttttctatcttggaca	7	17	11	6	0	3	0	0	0	3	0	3	3	3	3	0	4	2	4	0	4	2	6			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr8:97263294G>A	ENST00000287025.3	-	4	615	c.517C>T	c.(517-519)Cca>Tca	p.P173S	MTERFD1_ENST00000524341.1_5'UTR|MTERFD1_ENST00000523821.1_Missense_Mutation_p.P173S|MTERFD1_ENST00000522822.1_Missense_Mutation_p.P52S	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		173					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)					GCTGCTTCTGGATGTTTTTCT	0.353																																					p.P173S													.	.			0			c.C517T												83	82	82					8																	97263294		2203	4300	6503	SO:0001583	missense	51001	exon4			CTTCTGGATGTTT																												ENST00000287025.3:c.517C>T	8.37:g.97263294G>A	ENSP00000287025:p.Pro173Ser		38	0	0		52	0.27	14	NM_015942	132	0.3	39	B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835683	0.50951	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000287025	T;T;T	0.10668	2.85;2.85;2.85	5.55	0.434	0.16539	.	0.407066	0.29594	N	0.011712	T	0.12305	0.0299	M	0.66939	2.045	0.35106	D	0.765666	P;P	0.43412	0.806;0.806	B;B	0.44044	0.439;0.346	T	0.30119	-0.9989	10	0.21014	T	0.42	-9.2107	7.2249	0.26010	0.0632:0.3347:0.4869:0.1152	.	173;173	E5RIK9;Q96E29	.;MTER1_HUMAN	S	173;52;173	ENSP00000429400:P173S;ENSP00000430138:P52S;ENSP00000287025:P173S	ENSP00000287025:P173S	P	-	1	0	MTERFD1	97332470	0.984000	0.35163	0.699000	0.30290	0.892000	0.51952	2.146000	0.42216	-0.167000	0.10871	-2.871000	0.00099	CCA			0.353	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379876.1				A	97263294	G	A	97263294	3	1	62	1	0	0	0	0	1	0	0	0	9935	1174	41	3	756	3	MTERFD1	8	97263294	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		97263294	49100728	26	4443											
CPSF1	29894	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145623257	145623257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatggtgacgtggcccTcggcactcatgatgaccaca	10	7	12	12	2	1	3	1	3	0	0	2	4	1	4	2	4	1	1	2	4	1	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr8:145623257T>C	ENST00000349769.3	-	20	2079	c.1985A>G	c.(1984-1986)gAg>gGg	p.E662G	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	662					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GACGTGGCCCTCGGCACTCAT	0.652																																					p.E662G	NSCLC(133;1088 1848 27708 34777 35269)												.	CPSF1	92		0			c.A1985G												68	65	66					8																	145623257		2203	4298	6501	SO:0001583	missense	29894	exon20			TGGCCCTCGGCAC	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1985A>G	8.37:g.145623257T>C	ENSP00000339353:p.Glu662Gly		48	0	0		49	0.1	5	NM_013291	201	0.03	6	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.913874	0.52439	.	.	ENSG00000071894	ENST00000349769	T	0.33654	1.4	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.27053	0.805	0.58432	D	0.999994	B	0.23442	0.085	B	0.20577	0.03	T	0.05886	-1.0858	10	0.33141	T	0.24	-35.7814	11.8408	0.52353	0.0:0.0:0.0:1.0	.	662	Q10570	CPSF1_HUMAN	G	662	ENSP00000339353:E662G	ENSP00000339353:E662G	E	-	2	0	CPSF1	145594065	1.000000	0.71417	0.994000	0.49952	0.845000	0.48019	5.155000	0.64900	2.054000	0.61138	0.402000	0.26972	GAG			0.652	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291		C	145623257	T	C	145623257	3	2	62	1	0	0	0	0	1	0	0	0	3826	1551	54	4	2422	4	CPSF1	8	145623257	Missense_Mutation	SNP	T	TCGA-2G-AAL5-01A-11D-A42Y-10	48359963	145623257	740765	27	4444											
ARHGAP39	80728	mdanderson.org	37	chr8	145830968	145830968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcaggtcgacattatggCtcctgcactcgtagtcctgc	6	10	11	14	3	0	0	0	0	0	0	4	1	2	0	3	3	2	4	3	3	2	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr8:145830968C>T	ENST00000276826.5	-	1	233	c.32G>A	c.(31-33)aGc>aAc	p.S11N	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S11N|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S11N			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	11					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GACATTATGGCTCCTGCACTC	0.632																																					p.S11N													.	.			0			c.G32A												105	86	92					8																	145830968		2203	4300	6503	SO:0001583	missense	80728	exon3			TTATGGCTCCTGC		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.32G>A	8.37:g.145830968C>T	ENSP00000276826:p.Ser11Asn		40	0	0		41	0.07	3	NM_025251	17	0	0	B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37		.	.	.	.	.	.	.	.	.	.	C	12.24	1.877658	0.33162	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.24908	1.83;1.83;1.83	4.89	4.02	0.46733	.	0.156567	0.30347	N	0.009827	T	0.19406	0.0466	L	0.36672	1.1	0.25133	N	0.990557	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.14980	-1.0453	10	0.48119	T	0.1	-3.5663	8.8392	0.35131	0.0:0.8955:0.0:0.1045	.	11;11	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	N	11	ENSP00000276826:S11N;ENSP00000366522:S11N;ENSP00000445075:S11N	ENSP00000276826:S11N	S	-	2	0	ARHGAP39	145801776	1.000000	0.71417	0.130000	0.21974	0.351000	0.29236	2.655000	0.46707	1.059000	0.40554	0.561000	0.74099	AGC			0.632	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382509.1				T	145830968	C	T	145830968	3	4	62	1	0	0	0	0	1	0	0	0	884	797	28	2	3356	2	ARHGAP39	8	145830968	Missense_Mutation	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	207711	145830968	533054	28	4445											
KANK1	23189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	745199	745199	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggcttggaaggaagacGtctcctggccccacccaccg	8	6	11	16	2	1	1	0	0	1	1	2	3	1	3	6	4	0	1	6	4	3	2	rs148157700		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr9:745199G>A	ENST00000382303.1	+	16	4675	c.4023G>A	c.(4021-4023)acG>acA	p.T1341T	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.T1183T|KANK1_ENST00000382297.2_Silent_p.T1341T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1341					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAAGGAAGACGTCTCCTGGCC	0.478																																					p.T1341T													KANK1_ENST00000382303,NS,carcinoma,0,2	KANK1_ENST00000382303	0	2	0			c.G4023A							G	,	1,4405	2.1+/-5.4	0,1,2202	206	220	215		4023,3549	-6.3	0.8	9	dbSNP_134	215	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KANK1	NM_015158.2,NM_153186.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	1341/1353,1183/1195	745199	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23189	exon16			GAAGACGTCTCCT	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.4023G>A	9.37:g.745199G>A			158	0	0		124	0.44	54	NM_001256876	49	0.49	24	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																			0		0.478	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051484.2		NM_015158		A	745199	G	A	745199	2	1	62	1	0	0	0	0	0	0	0	1	7991	1132	40	1		1	KANK1	9	745199	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		745199	140468232	29	4446											
GNAQ	2776	mdanderson.org	37	chr9	80430537	80430537	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagatactcactatttGgtagagtcagataattgata	15	13	9	4	0	2	4	2	1	0	3	2	5	2	5	0	2	1	1	0	2	6	7			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr9:80430537G>T	ENST00000286548.4	-	3	693	c.471C>A	c.(469-471)acC>acA	p.T157T	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	157					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCACTATTTGGTAGAGTCAG	0.353			Mis		uveal melanoma																																p.T157T				Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	.	.			0			c.C471A												115	105	109					9																	80430537		2203	4300	6503	SO:0001819	synonymous_variant	2776	exon3			CTATTTGGTAGAG		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.471C>A	9.37:g.80430537G>T			62	0	0		48	0.06	3	NM_002072	17	0	0	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Silent	SNP	ENST00000286548.4	37	CCDS6658.1																																																																																					0.353	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052761.1		NM_002072		T	80430537	G	T	80430537	2	4	62	1	0	0	0	0	0	0	0	1	6523	1335	47	3		3	GNAQ	9	80430537	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	79685338	80430537	60782894	30	4447											
C9orf47	286223	mdanderson.org	37	chr9	91606483	91606483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccaggcccgggaacgaCgtcgcgagcgctgagactgc	8	3	15	15	6	0	1	0	1	0	1	1	6	0	2	3	2	3	1	3	2	1	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr9:91606483C>T	ENST00000334490.5	+	2	413	c.345C>T	c.(343-345)gaC>gaT	p.D115D	C9orf47_ENST00000375851.2_Silent_p.D96D|S1PR3_ENST00000358157.2_5'UTR|C9orf47_ENST00000375850.3_Silent_p.D96D			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	115						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CCGGGAACGACGTCGCGAGCG	0.741																																					p.D115D													.	.			0			c.C345T												6	6	6					9																	91606483		1831	3546	5377	SO:0001819	synonymous_variant	286223	exon2			GAACGACGTCGCG	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.345C>T	9.37:g.91606483C>T			14	0	0		15	0.13	2	NM_001001938	10	0	0	B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Silent	SNP	ENST00000334490.5	37	CCDS35062.1																																																																																					0.741	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000355972.1		NM_182599		T	91606483	C	T	91606483	2	4	62	1	0	0	0	0	0	0	0	1	2487	535	19	1		1	C9orf47	9	91606483	Silent	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	11175946	91606483	49606948	31	4448											
NEK6	10783	broad.mit.edu	37	chr9	127089658	127089658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcacagccacgggcgtcGtgaagctcggtgaccttggt	7	9	13	12	4	2	2	2	2	0	0	4	2	2	2	2	3	2	1	2	3	1	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr9:127089658G>T	ENST00000320246.5	+	7	701	c.556G>T	c.(556-558)Gtg>Ttg	p.V186L	NEK6_ENST00000540326.1_Missense_Mutation_p.V204L|NEK6_ENST00000545174.1_Missense_Mutation_p.V186L|NEK6_ENST00000546191.1_Missense_Mutation_p.V186L|NEK6_ENST00000394199.2_Missense_Mutation_p.V220L|NEK6_ENST00000373600.3_Missense_Mutation_p.V220L|NEK6_ENST00000373603.1_Missense_Mutation_p.V186L|NEK6_ENST00000539416.1_Missense_Mutation_p.V211L	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.V179M(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CACGGGCGTCGTGAAGCTCGG	0.637																																					p.V220L	NSCLC(122;934 1785 18647 44295 45571)												NEK6,NS,carcinoma,0,1	NEK6	47	1	1	Substitution - Missense(1)	prostate(1)	c.G658T												248	221	230					9																	127089658		2203	4300	6503	SO:0001583	missense	10783	exon8			GGCGTCGTGAAGC	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.556G>T	9.37:g.127089658G>T	ENSP00000319734:p.Val186Leu		64	0	0		62	0.05	3	NM_001166171	78	0	0	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261321	0.80246	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416	T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	3.09;3.09;3.09;3.09;3.09;1.77;1.03;3.09;1.77;3.09;3.09;1.77;3.09	5.95	5.95	0.96441	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	0.51975	0.1706	N	0.20986	0.625	0.80722	D	1	D;P;P;P	0.65815	0.995;0.794;0.705;0.794	D;P;B;B	0.65773	0.938;0.575;0.405;0.423	T	0.50457	-0.8826	10	0.51188	T	0.08	.	19.3735	0.94500	0.0:0.0:1.0:0.0	.	211;220;186;204	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	L	186;204;220;186;118;186;186;118;186;186;220;186;186;211	ENSP00000362705:V186L;ENSP00000441469:V204L;ENSP00000362702:V220L;ENSP00000319734:V186L;ENSP00000442636:V186L;ENSP00000389517:V186L;ENSP00000405215:V118L;ENSP00000362698:V186L;ENSP00000403087:V186L;ENSP00000377749:V220L;ENSP00000441426:V186L;ENSP00000411401:V186L;ENSP00000439651:V211L	ENSP00000319734:V186L	V	+	1	0	NEK6	126129479	1.000000	0.71417	0.975000	0.42487	0.416000	0.31233	9.274000	0.95731	2.825000	0.97269	0.655000	0.94253	GTG			0.637	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054016.1		NM_014397		T	127089658	G	T	127089658	3	4	62	1	0	0	0	0	1	0	0	0	10345	1145	40	1	763	1	NEK6	9	127089658	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	35483175	127089658	14123773	32	4449											
COL5A1	1289	mdanderson.org	37	chr9	137593103	137593103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccaaattcctcgaccGcagcgaccaccccatgatcg	11	5	7	18	4	0	1	0	1	0	0	3	4	1	1	7	0	1	1	7	0	1	1	rs142933609		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr9:137593103G>A	ENST00000371817.3	+	4	992	c.578G>A	c.(577-579)cGc>cAc	p.R193H	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	193	Laminin G-like.				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)	p.R193H(2)		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)		TTCCTCGACCGCAGCGACCAC	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		20085	0		0	False		,,,				2504	0				p.R193H													COL5A1,bladder,carcinoma,+1,3	COL5A1	1	3	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G578A												170	124	140					9																	137593103		2203	4300	6503	SO:0001583	missense	1289	exon4			TCGACCGCAGCGA	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.578G>A	9.37:g.137593103G>A	ENSP00000360882:p.Arg193His		77	0	0		68	0.06	4	NM_000093	203	0	0	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.78	3.890497	0.72524	.	.	ENSG00000130635	ENST00000371817	T	0.78246	-1.16	5.07	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000002	D	0.90817	0.7116	M	0.91038	3.17	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.92682	0.6159	10	0.72032	D	0.01	.	18.8039	0.92029	0.0:0.0:1.0:0.0	.	193	P20908	CO5A1_HUMAN	H	193	ENSP00000360882:R193H	ENSP00000360882:R193H	R	+	2	0	COL5A1	136732924	1.000000	0.71417	0.982000	0.44146	0.547000	0.35210	9.489000	0.97949	2.498000	0.84270	0.591000	0.81541	CGC	0		0.522	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054954.2		NM_000093		A	137593103	G	A	137593103	3	1	62	1	0	0	0	0	1	0	0	0	3698	1087	38	1	592	1	COL5A1	9	137593103	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	10503445	137593103	3620328	33	4450											
CARD9	64170	mdanderson.org	37	chr9	139262259	139262259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcgtgctgtgcgtgcaGctcctcccgcgtggctatgg	2	9	16	14	5	0	0	0	0	0	0	2	0	2	0	3	3	4	4	3	3	1	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr9:139262259G>T	ENST00000371732.5	-	8	1264	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.L367M	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	367					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGTGCGTGCAGCTCCTCCCGC	0.706																																					p.L367M													.	.			0			c.C1099A												30	27	28					9																	139262259		2196	4291	6487	SO:0001583	missense	64170	exon8			CGTGCAGCTCCTC	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1099C>A	9.37:g.139262259G>T	ENSP00000360797:p.Leu367Met		12	0	0		24	0.13	3	NM_052813	9	0	0	Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	9.447	1.089520	0.20390	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.38722	1.12;1.12	3.51	2.59	0.31030	.	0.191988	0.34110	N	0.004251	T	0.33059	0.0850	L	0.47716	1.5	0.80722	D	1	P;P;P	0.48503	0.911;0.834;0.744	P;P;B	0.45474	0.482;0.482;0.288	T	0.07195	-1.0785	10	0.34782	T	0.22	-16.8889	3.7821	0.08684	0.3511:0.0:0.6489:0.0	.	263;367;367	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	M	367	ENSP00000360799:L367M;ENSP00000360797:L367M	ENSP00000360797:L367M	L	-	1	2	CARD9	138382080	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	1.328000	0.33758	1.964000	0.57103	0.561000	0.74099	CTG			0.706	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055053.1		NM_052813		T	139262259	G	T	139262259	3	4	62	1	0	0	0	0	1	0	0	0	2654	962	34	2	588	2	CARD9	9	139262259	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	1669156	139262259	1951172	34	4451											
ZNF503	84858	mdanderson.org	37	chr10	77159542	77159542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagagccttgcctccCgggcccccatccggatgctg	5	6	12	18	2	0	1	0	0	0	1	2	3	2	2	7	2	4	1	7	2	0	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr10:77159542C>T	ENST00000372524.4	-	2	1392	c.906G>A	c.(904-906)ccG>ccA	p.P302P	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.P302P|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	302	Gly-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)					CCTTGCCTCCCGGGCCCCCAT	0.716																																					p.P302P													.	.			0			c.G906A												11	15	13					10																	77159542		2192	4287	6479	SO:0001819	synonymous_variant	84858	exon2			GCCTCCCGGGCCC	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.906G>A	10.37:g.77159542C>T			25	0	0		18	0.11	2	NM_032772	150	0	0	Q8NAC5|Q96E25|Q96IJ0	Silent	SNP	ENST00000372524.4	37	CCDS7350.1																																																																																					0.716	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048826.1		NM_032772		T	77159542	C	T	77159542	2	4	62	1	0	0	0	0	0	0	0	1	17974	639	23	1		1	ZNF503	10	77159542	Silent	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10		77159542	58375205	35	4452											
CRTAC1	55118	mdanderson.org	37	chr10	99655016	99655016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacccaggccaaagtgtGccacgggctccatctcacac	10	6	8	17	1	2	0	2	0	1	0	4	0	3	0	4	2	1	1	4	2	1	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr10:99655016G>T	ENST00000370597.3	-	11	1827	c.1472C>A	c.(1471-1473)gCa>gAa	p.A491E	CRTAC1_ENST00000298819.4_Missense_Mutation_p.A491E|CRTAC1_ENST00000370591.2_Missense_Mutation_p.A491E	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	491						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCCAAAGTGTGCCACGGGCTC	0.617																																					p.A491E													.	.			0			c.C1472A												77	67	70					10																	99655016		2203	4300	6503	SO:0001583	missense	55118	exon11			AAGTGTGCCACGG	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1472C>A	10.37:g.99655016G>T	ENSP00000359629:p.Ala491Glu		23	0	0		31	0.1	3	NM_001206528	14	0	0	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725334	0.89298	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.75154	1.34;-0.91;1.33;-0.07;-0.07	5.06	5.06	0.68205	ASPIC/UnbV (1);	0.000000	0.85682	D	0.000000	D	0.88562	0.6470	M	0.89715	3.055	0.80722	D	1	D;D;D	0.67145	0.985;0.993;0.996	D;D;D	0.70935	0.923;0.955;0.971	D	0.90523	0.4490	10	0.56958	D	0.05	-9.5092	18.0162	0.89241	0.0:0.0:1.0:0.0	.	491;491;387	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	E	387;491;491;483;491	ENSP00000408445:A387E;ENSP00000359629:A491E;ENSP00000298819:A491E;ENSP00000310810:A483E;ENSP00000359623:A491E	ENSP00000298819:A491E	A	-	2	0	CRTAC1	99645006	1.000000	0.71417	0.991000	0.47740	0.816000	0.46133	9.691000	0.98679	2.339000	0.79563	0.462000	0.41574	GCA			0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000049754.1		NM_018058		T	99655016	G	T	99655016	3	4	62	1	0	0	0	0	1	0	0	0	3898	1319	46	2	533	2	CRTAC1	10	99655016	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	22495474	99655016	35879731	36	4453											
MMP21	118856	mdanderson.org	37	chr10	127461212	127461212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgcccgtgtcactggtggGaggtgtgaagtgctcgtcgt	5	11	17	8	3	1	1	1	1	0	0	3	3	1	2	1	3	2	1	1	3	1	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr10:127461212G>T	ENST00000368808.3	-	3	804	c.805C>A	c.(805-807)Ccc>Acc	p.P269T		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	269					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TCACTGGTGGGAGGTGTGAAG	0.592																																					p.P269T													.	.			0			c.C805A												166	142	150					10																	127461212		2203	4300	6503	SO:0001583	missense	118856	exon3			TGGTGGGAGGTGT	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.805C>A	10.37:g.127461212G>T	ENSP00000357798:p.Pro269Thr		87	0	0		110	0.05	5	NM_147191	0		0	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060230	0.76074	.	.	ENSG00000154485	ENST00000368808	T	0.16196	2.36	4.51	4.51	0.55191	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.123149	0.56097	D	0.000038	T	0.26810	0.0656	L	0.39692	1.235	0.47547	D	0.99945	D	0.59767	0.986	P	0.62184	0.899	T	0.01874	-1.1256	10	0.12766	T	0.61	-29.6032	14.7847	0.69793	0.0:0.0:1.0:0.0	.	269	Q8N119	MMP21_HUMAN	T	269	ENSP00000357798:P269T	ENSP00000357798:P269T	P	-	1	0	MMP21	127451202	1.000000	0.71417	0.981000	0.43875	0.857000	0.48899	7.523000	0.81856	2.350000	0.79820	0.561000	0.74099	CCC			0.592	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050928.1				T	127461212	G	T	127461212	3	4	62	1	0	0	0	0	1	0	0	0	9676	1174	41	3	924	3	MMP21	10	127461212	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	27806196	127461212	8073535	37	4454											
C11orf9	745	mdanderson.org	37	chr11	61545883	61545883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggtgaaggagatcttGcctgaggctgtgaaagacac	12	7	15	7	0	1	5	0	3	1	2	1	7	1	6	1	4	1	1	1	4	2	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr11:61545883G>T	ENST00000278836.5	+	14	2031	c.1935G>T	c.(1933-1935)ttG>ttT	p.L645F	MYRF_ENST00000265460.5_Missense_Mutation_p.L636F|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Missense_Mutation_p.L270F|MYRF_ENST00000389602.4_Missense_Mutation_p.L36F	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	645	Peptidase S74.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGAGATCTTGCCTGAGGCTG	0.542																																					p.L645F													.	.			0			c.G1935T												139	129	132					11																	61545883		2202	4299	6501	SO:0001583	missense	745	exon14			GATCTTGCCTGAG		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.1935G>T	11.37:g.61545883G>T	ENSP00000278836:p.Leu645Phe		28	0	0		49	0.08	4	NM_001127392	62	0	0	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971887	0.74246	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797;ENST00000389602	T;T;T;T	0.55588	0.93;0.91;0.51;0.57	4.41	3.41	0.39046	.	0.000000	0.64402	D	0.000002	T	0.65698	0.2716	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.87578	0.998;0.996;0.965	T	0.67768	-0.5585	10	0.72032	D	0.01	-16.493	9.3821	0.38320	0.0:0.3006:0.582:0.1175	.	36;636;645	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	F	645;636;270;36	ENSP00000278836:L645F;ENSP00000265460:L636F;ENSP00000333261:L270F;ENSP00000374253:L36F	ENSP00000265460:L636F	L	+	3	2	C11orf9	61302459	0.911000	0.30947	0.999000	0.59377	0.970000	0.65996	-0.008000	0.12788	2.191000	0.70037	0.561000	0.74099	TTG			0.542	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000398519.2		NM_013279		T	61545883	G	T	61545883	3	4	62	1	0	0	0	0	1	0	0	0	1673	1310	46	2	2012	2	C11orf9	11	61545883	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		61545883	73460633	38	4455											
ATG2A	23130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64662855	64662855	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcagagcgcttatcctgCagggagcgggagacgggggc	7	4	19	11	5	0	2	0	0	0	2	1	4	1	3	1	4	3	3	1	4	1	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr11:64662855C>A	ENST00000377264.3	-	40	5599	c.5487G>T	c.(5485-5487)ctG>ctT	p.L1829L	ATG2A_ENST00000421419.2_Silent_p.L1831L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1829					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						GCTTATCCTGCAGGGAGCGGG	0.682																																					p.L1829L													.	.			0			c.G5487T												19	23	21					11																	64662855		2197	4289	6486	SO:0001819	synonymous_variant	23130	exon40			ATCCTGCAGGGAG		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.5487G>T	11.37:g.64662855C>A			55	0	0		62	0.44	27	NM_015104	85	0.45	38	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	7.379	0.628423	0.14257	.	.	ENSG00000110046	ENST00000418259	.	.	.	3.45	-2.17	0.07059	.	.	.	.	.	T	0.38401	0.1039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31613	-0.9937	4	.	.	.	.	0.8365	0.01141	0.1672:0.2517:0.1648:0.4162	.	.	.	.	S	1633	.	.	A	-	1	0	ATG2A	64419431	1.000000	0.71417	0.997000	0.53966	0.779000	0.44077	0.927000	0.28818	-0.177000	0.10690	-0.215000	0.12644	GCA			0.682	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000143224.1		NM_015104		A	64662855	C	A	64662855	2	1	62	1	0	0	0	0	0	0	0	1	1093	697	25	2		2	ATG2A	11	64662855	Silent	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	3116972	64662855	70343661	39	4456											
CLPB	81570	mdanderson.org	37	chr11	72145171	72145171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagcgctgcggccagggcGcacatgcccagtccggccct	6	4	13	18	4	0	0	0	0	0	0	1	0	1	0	5	3	3	2	5	3	0	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr11:72145171G>A	ENST00000294053.3	-	1	521	c.348C>T	c.(346-348)tgC>tgT	p.C116C	CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000543042.1_Intron|CLPB_ENST00000437826.2_Missense_Mutation_p.R36C|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000340729.5_Silent_p.C116C|CLPB_ENST00000538039.1_Silent_p.C116C	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	116					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CGGCCAGGGCGCACATGCCCA	0.617											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R36C													.	.			0			c.C106T												74	76	75					11																	72145171		2200	4292	6492	SO:0001819	synonymous_variant	81570	exon1			CAGGGCGCACATG	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.348C>T	11.37:g.72145171G>A			29	0	0	1135	21	0.1	2	NM_001258394	28	0	0	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696870	0.30142	.	.	ENSG00000162129	ENST00000535990;ENST00000437826	T;T	0.17370	2.4;2.28	5.04	4.13	0.48395	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.35045	D	0.760096	P	0.44260	0.83	B	0.29942	0.109	T	0.28996	-1.0026	7	.	.	.	-3.6894	12.0035	0.53246	0.0:0.8248:0.1752:0.0	.	36	E7EWN6	.	C	86;36	ENSP00000443822:R86C;ENSP00000407296:R36C	.	R	-	1	0	CLPB	71822819	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	1.846000	0.39289	1.260000	0.44134	-0.128000	0.14901	CGC			0.617	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000396889.1		NM_030813		A	72145171	G	A	72145171	2	1	62	1	0	0	0	0	0	0	0	1	3553	1079	38	1		1	CLPB	11	72145171	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	7482316	72145171	62861345	40	4457											
CNTN5	53942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	99715691	99715691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attgtgaagttcgtggcaatCcagttcccagttacaggtag	10	12	11	8	1	0	1	0	1	0	0	3	1	2	1	2	2	1	5	2	2	4	5	rs201512506		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr11:99715691C>T	ENST00000524871.1	+	5	675	c.385C>T	c.(385-387)Cca>Tca	p.P129S	CNTN5_ENST00000528682.1_Missense_Mutation_p.P129S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P129S|CNTN5_ENST00000527185.1_Missense_Mutation_p.P129S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P55S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	129	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCGTGGCAATCCAGTTCCCAG	0.373																																					p.P129S													.	.			0			c.C385T												148	133	138					11																	99715691		1844	4097	5941	SO:0001583	missense	53942	exon4			GGCAATCCAGTTC	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.385C>T	11.37:g.99715691C>T	ENSP00000435637:p.Pro129Ser		94	0	0		126	0.21	27	NM_001243270	0		0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800838	0.50315	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89378	0.6698	M	0.91717	3.235	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	0.91177	0.4973	10	0.66056	D	0.02	.	18.3699	0.90403	0.0:1.0:0.0:0.0	.	129;55;129	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	S	129;129;129;55;129	ENSP00000433575:P129S;ENSP00000436185:P129S;ENSP00000435637:P129S;ENSP00000393229:P55S;ENSP00000279463:P129S	ENSP00000279463:P129S	P	+	1	0	CNTN5	99220901	1.000000	0.71417	0.132000	0.22025	0.434000	0.31775	5.470000	0.66756	2.653000	0.90120	0.650000	0.86243	CCA			0.373	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395148.2		NM_014361		T	99715691	C	T	99715691	3	4	62	1	0	0	0	0	1	0	0	0	3646	855	30	3	395	3	CNTN5	11	99715691	Missense_Mutation	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	27570520	99715691	35290825	41	4458											
PGR	5241	mdanderson.org	37	chr11	100999245	100999245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctggtgacaggccccggGgcagcactttatgggcagct	6	7	17	11	1	0	1	0	1	0	0	0	1	0	1	2	6	2	5	2	6	1	2	rs11571145	byFrequency	TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr11:100999245G>T	ENST00000325455.5	-	1	2010	c.557C>A	c.(556-558)cCc>cAc	p.P186H	PGR_ENST00000263463.5_Missense_Mutation_p.P186H|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	186	Modulating, Pro-Rich.		P -> L (in dbSNP:rs11571145). {ECO:0000269|Ref.8}.		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)	CAGGCCCCGGGGCAGCACTTT	0.721																																					p.P186H	Pancreas(124;2271 2354 21954 22882)												PGR,NS,carcinoma,0,1	PGR	0	1	0			c.C557A												5	7	6					11																	100999245		2039	4100	6139	SO:0001583	missense	5241	exon1			CCCCGGGGCAGCA	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.557C>A	11.37:g.100999245G>T	ENSP00000325120:p.Pro186His		16	0	0		22	0.09	2	NM_000926	0		0	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140205	0.37825	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.19105	2.17;2.17	3.62	2.65	0.31530	.	1.295630	0.05245	N	0.512963	T	0.19287	0.0463	L	0.34521	1.04	0.33918	D	0.640482	B;B	0.10296	0.003;0.003	B;B	0.15052	0.012;0.012	T	0.18429	-1.0337	10	0.59425	D	0.04	.	8.4855	0.33069	0.0:0.0:0.5311:0.4689	.	186;186	Q8TDS3;P06401	.;PRGR_HUMAN	H	186	ENSP00000325120:P186H;ENSP00000263463:P186H	ENSP00000263463:P186H	P	-	2	0	PGR	100504455	1.000000	0.71417	0.840000	0.33206	0.780000	0.44128	3.317000	0.51968	0.788000	0.33755	0.561000	0.74099	CCC			0.721	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394934.1				T	100999245	G	T	100999245	3	4	62	1	0	0	0	0	1	0	0	0	11822	1232	43	3	2276	3	PGR	11	100999245	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	1283554	100999245	34007271	42	4459											
SCNN1A	6337	broad.mit.edu	37	chr12	6457129	6457129	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcataggcagggggAggggctgtcaaggctggaga	9	5	22	5	0	1	1	1	0	0	1	1	3	1	2	0	9	0	4	0	9	2	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr12:6457129A>G	ENST00000228916.2	-	13	2018	c.1920T>C	c.(1918-1920)ccT>ccC	p.P640P	SCNN1A_ENST00000540037.1_Silent_p.P340P|SCNN1A_ENST00000360168.3_Silent_p.P699P|SCNN1A_ENST00000543768.1_Silent_p.P663P|SCNN1A_ENST00000358945.3_Silent_p.P662P|SCNN1A_ENST00000396966.2_3'UTR	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	640					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	aggcagggggaggggctgtca	0.692																																					p.P699P													.	SCNN1A	54		0			c.T2097C												8	8	8					12																	6457129		2147	4223	6370	SO:0001819	synonymous_variant	0	exon12			AGGGGGAGGGGCT	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1920T>C	12.37:g.6457129A>G			75	0.0266666667	2		247	0.04	10	NM_001159576	121	0	0	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	CCDS8543.1																																																																																					0.692	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399055.1				G	6457129	A	G	6457129	2	3	62	1	0	0	0	0	0	0	0	1	13950	291	11	4		4	SCNN1A	12	6457129	Silent	SNP	A	TCGA-2G-AAL5-01A-11D-A42Y-10		6457129	127394766	43	4460											
KRT85	3891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52758951	52758951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgctgctccaggaagcGcacctgccattcaggtggaa	8	9	12	12	1	2	0	1	0	1	0	3	2	3	2	3	3	4	4	3	3	2	2	rs148274330		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr12:52758951G>A	ENST00000257901.3	-	2	499	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	142	Coil 1A.|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)		TCCAGGAAGCGCACCTGCCAT	0.607													G|||	1	0.000199681	0	0.0014	5008	,	,		17569	0		0	False		,,,				2504	0				p.R142C													.	.			0			c.C424T							G	CYS/ARG	0,4406		0,0,2203	28	28	28		424	4.2	1	12	dbSNP_134	28	1,8599		0,1,4299	no	missense	KRT85	NM_002283.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	142/508	52758951	1,13005	2203	4300	6503	SO:0001583	missense	3891	exon2			GGAAGCGCACCTG	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.424C>T	12.37:g.52758951G>A	ENSP00000257901:p.Arg142Cys		65	0	0		92	0.18	17	NM_002283	0		0	Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.924307	0.73213	0.0	1.16E-4	ENSG00000135443	ENST00000257901	D	0.92595	-3.07	4.21	4.21	0.49690	Filament (1);	0.000000	0.64402	D	0.000015	D	0.92938	0.7753	M	0.87827	2.91	0.80722	D	1	P	0.46578	0.88	B	0.40940	0.344	D	0.94739	0.7917	10	0.72032	D	0.01	.	17.0925	0.86626	0.0:0.0:1.0:0.0	.	142	P78386	KRT85_HUMAN	C	142	ENSP00000257901:R142C	ENSP00000257901:R142C	R	-	1	0	KRT85	51045218	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.597000	0.98273	2.335000	0.79485	0.491000	0.48974	CGC			0.607	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405184.1		NM_002283		A	52758951	G	A	52758951	3	1	62	1	0	0	0	0	1	0	0	0	8514	1087	38	1	1131	1	KRT85	12	52758951	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	46301822	52758951	81092944	44	4461											
C12orf52	84934	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	113629502	113629502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatctcaggccttccacGtcaggggtgaccttccggag	7	8	13	13	2	2	1	2	1	1	0	5	3	4	3	4	5	0	0	4	5	0	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr12:113629502G>A	ENST00000548278.1	+	4	1382	c.690G>A	c.(688-690)acG>acA	p.T230T	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Silent_p.T230T|C12orf52_ENST00000552495.1_Silent_p.T254T	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		230	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGCCTTCCACGTCAGGGGTGA	0.612																																					p.T230T													.	.			0			c.G690A												65	59	61					12																	113629502		2203	4300	6503	SO:0001819	synonymous_variant	84934	exon4			TTCCACGTCAGGG																												ENST00000548278.1:c.690G>A	12.37:g.113629502G>A			68	0	0		111	0.27	30	NM_032848	104	0.41	43	B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	G	3.974	-0.007844	0.07773	.	.	ENSG00000139405	ENST00000299731	.	.	.	4.79	-9.59	0.00556	.	.	.	.	.	T	0.29945	0.0749	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43048	-0.9415	5	0.87932	D	0	0.2448	3.4141	0.07369	0.4417:0.2516:0.2227:0.084	.	.	.	.	H	177	.	ENSP00000299731:R177H	R	+	2	0	C12orf52	112113885	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-3.140000	0.00586	-3.238000	0.00207	-0.946000	0.02672	CGT			0.612	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405239.1				A	113629502	G	A	113629502	2	1	62	1	0	0	0	0	0	0	0	1	1699	1132	40	1		1	C12orf52	12	113629502	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	60870551	113629502	20222393	45	4462											
GLT1D1	144423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	129467613	129467613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagctcatcaggaagcTggaaggaagcactgaagatt	15	6	11	9	0	2	2	2	1	0	1	2	5	2	5	1	3	4	3	1	3	5	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr12:129467613T>C	ENST00000442111.2	+	12	1107	c.1019T>C	c.(1018-1020)cTg>cCg	p.L340P	GLT1D1_ENST00000537468.1_Missense_Mutation_p.L345P|GLT1D1_ENST00000281703.6_Missense_Mutation_p.L260P|GLT1D1_ENST00000542193.1_Missense_Mutation_p.L257P			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	340					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		ATCAGGAAGCTGGAAGGAAGC	0.502																																					p.L260P													.	.			0			c.T779C												151	140	144					12																	129467613		2203	4300	6503	SO:0001583	missense	144423	exon8			GGAAGCTGGAAGG		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.1019T>C	12.37:g.129467613T>C	ENSP00000394692:p.Leu340Pro		49	0	0		62	0.32	20	NM_144669	19	0.05	1	Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37		.	.	.	.	.	.	.	.	.	.	T	16.44	3.122545	0.56613	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	D	0.89494	0.6731	M	0.71581	2.175	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.89619	0.3847	10	0.49607	T	0.09	-30.346	12.7126	0.57098	0.0:0.0:0.0:1.0	.	345;260	F5H088;Q96MS3-2	.;.	P	340;260;345;257	ENSP00000394692:L340P;ENSP00000281703:L260P;ENSP00000438158:L345P;ENSP00000437500:L257P	ENSP00000281703:L260P	L	+	2	0	GLT1D1	128033566	0.498000	0.26075	0.036000	0.18154	0.004000	0.04260	4.062000	0.57492	1.949000	0.56562	0.460000	0.39030	CTG			0.502	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000399740.1		NM_144669		C	129467613	T	C	129467613	3	2	62	1	0	0	0	0	1	0	0	0	6479	1580	55	4	809	4	GLT1D1	12	129467613	Missense_Mutation	SNP	T	TCGA-2G-AAL5-01A-11D-A42Y-10	15838111	129467613	4384282	46	4463											
ULK1	8408	mdanderson.org	37	chr12	132401102	132401102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgttgggccctggcctgCggccaggcgaggaccccaag	6	4	16	15	3	0	0	0	0	0	0	0	2	0	1	6	5	2	1	6	5	1	1	rs147399196	byFrequency	TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr12:132401102C>T	ENST00000321867.4	+	20	2389	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	680					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCTGGCCTGCGGCCAGGCGA	0.687													C|||	13	0.00259585	0.0076	0	5008	,	,		15062	0		0.002	False		,,,				2504	0.001				p.R680W													.	.			0			c.C2038T							C	TRP/ARG	4,4368		0,4,2182	19	24	22		2038	2.4	0.9	12	dbSNP_134	22	3,8569		0,3,4283	yes	missense	ULK1	NM_003565.2	101	0,7,6465	TT,TC,CC		0.035,0.0915,0.0541	probably-damaging	680/1051	132401102	7,12937	2186	4286	6472	SO:0001583	missense	8408	exon20			GGCCTGCGGCCAG	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2038C>T	12.37:g.132401102C>T	ENSP00000324560:p.Arg680Trp		28	0	0		48	0.06	3	NM_003565	146	0	0	Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	CCDS9274.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.37	2.814833	0.50527	9.15E-4	3.5E-4	ENSG00000177169	ENST00000321867;ENST00000541761	T;T	0.56776	0.44;0.44	5.69	2.44	0.29823	.	0.089379	0.49305	D	0.000146	T	0.65260	0.2674	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.56474	0.799	T	0.72037	-0.4411	10	0.72032	D	0.01	-39.8645	15.3796	0.74645	0.4307:0.5693:0.0:0.0	.	680	O75385	ULK1_HUMAN	W	680;28	ENSP00000324560:R680W;ENSP00000444298:R28W	ENSP00000324560:R680W	R	+	1	2	ULK1	130967055	0.950000	0.32346	0.856000	0.33681	0.063000	0.16089	1.354000	0.34056	0.706000	0.31912	0.655000	0.94253	CGG	0.001		0.687	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397769.3				T	132401102	C	T	132401102	3	4	62	1	0	0	0	0	1	0	0	0	16999	759	27	1	2116	1	ULK1	12	132401102	Missense_Mutation	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	2933489	132401102	1450793	47	4464											
AKAP11	11215	hgsc.bcm.edu	37	chr13	42876257	42876257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttaactaaaaagctcaaGggagaattagccaaagagtt	19	8	9	5	0	1	2	1	0	0	2	1	3	1	2	1	1	3	3	1	1	9	4			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr13:42876257G>T	ENST00000025301.2	+	8	3550	c.3375G>T	c.(3373-3375)aaG>aaT	p.K1125N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1125					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)		AAAAGCTCAAGGGAGAATTAG	0.408																																					p.K1125N													.	.			0			c.G3375T												95	101	99					13																	42876257		2203	4300	6503	SO:0001583	missense	11215	exon8			GCTCAAGGGAGAA	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.3375G>T	13.37:g.42876257G>T	ENSP00000025301:p.Lys1125Asn		136	0	0		91	0.04	4	NM_016248	5	0	0	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430983	0.43122	.	.	ENSG00000023516	ENST00000025301	T	0.28895	1.59	5.41	-0.599	0.11645	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.71581	2.175	0.46701	D	0.999161	D	0.89917	1.0	D	0.91635	0.999	T	0.51260	-0.8728	10	0.72032	D	0.01	.	13.4832	0.61348	0.4815:0.0:0.5185:0.0	.	1125	Q9UKA4	AKA11_HUMAN	N	1125	ENSP00000025301:K1125N	ENSP00000025301:K1125N	K	+	3	2	AKAP11	41774257	1.000000	0.71417	0.983000	0.44433	0.824000	0.46624	1.671000	0.37513	-0.372000	0.07992	-1.094000	0.02160	AAG			0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044700.2		NM_016248		T	42876257	G	T	42876257	3	4	62	1	0	0	0	0	1	0	0	0	447	991	35	3	3397	3	AKAP11	13	42876257	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		42876257	72293621	48	4465											
MYCBP2	23077	mdanderson.org	37	chr13	77672103	77672103	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttataggagcatgttctttGgaaagttcaggatgaaactt	12	14	10	5	0	2	1	1	1	1	0	2	4	2	4	0	3	2	3	0	3	4	6			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr13:77672103G>T	ENST00000544440.2	-	56	9089	c.9072C>A	c.(9070-9072)tcC>tcA	p.S3024S	MYCBP2_ENST00000357337.6_Silent_p.S3024S|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000407578.2_Silent_p.S3062S|MYCBP2-AS1_ENST00000593933.1_RNA					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)		CATGTTCTTTGGAAAGTTCAG	0.373																																					p.S3062S													MYCBP2_ENST00000407578,NS,NS,-1,15	MYCBP2_ENST00000407578	-1	15	0			c.C9186A												66	69	68					13																	77672103		2203	4300	6503	SO:0001819	synonymous_variant	23077	exon56			TTCTTTGGAAAGT	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.9072C>A	13.37:g.77672103G>T			55	0	0		40	0.1	4	NM_015057	10	0	0		Silent	SNP	ENST00000544440.2	37																																																																																						0.373	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000045326.1		NM_015057		T	77672103	G	T	77672103	2	4	62	1	0	0	0	0	0	0	0	1	10034	1335	47	3		3	MYCBP2	13	77672103	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	34795846	77672103	37497775	49	4466											
FOS	2353	mdanderson.org	37	chr14	75748069	75748069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcccaccgcaagggcaGcagcagcaatgagccttcct	10	5	11	15	1	0	1	0	1	0	0	1	1	1	1	4	1	6	6	4	1	2	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr14:75748069G>T	ENST00000303562.4	+	4	1294	c.1085G>T	c.(1084-1086)aGc>aTc	p.S362I	FOS_ENST00000535987.1_Missense_Mutation_p.S326I|FOS_ENST00000555347.1_Missense_Mutation_p.S214I|FOS_ENST00000555686.1_Missense_Mutation_p.S248I	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	362					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CGCAAGGGCAGCAGCAGCAAT	0.642																																					p.S362I													.	.			0			c.G1085T												41	42	42					14																	75748069		2203	4300	6503	SO:0001583	missense	2353	exon4			AGGGCAGCAGCAG	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.1085G>T	14.37:g.75748069G>T	ENSP00000306245:p.Ser362Ile		30	0	0		32	0.09	3	NM_005252	209	0	0	A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963668	0.74016	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555347	T;T;T	0.72725	-0.07;0.39;-0.68	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.85120	0.5624	M	0.79011	2.435	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.962;0.991	D	0.86308	0.1684	10	0.87932	D	0	-31.4476	19.3271	0.94267	0.0:0.0:1.0:0.0	.	326;362	B4DQ65;P01100	.;FOS_HUMAN	I	362;326;248;214	ENSP00000306245:S362I;ENSP00000442268:S326I;ENSP00000452590:S248I	ENSP00000306245:S362I	S	+	2	0	FOS	74817822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.894000	0.87336	2.667000	0.90743	0.655000	0.94253	AGC			0.642	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415044.1		NM_005252		T	75748069	G	T	75748069	3	4	62	1	0	0	0	0	1	0	0	0	5998	971	34	2	1099	2	FOS	14	75748069	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		75748069	31601471	50	4467											
PLA2G4D	283748	mdanderson.org	37	chr15	42362251	42362251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggttccacccgggggaaggGcagcccccgggcccggcagt	5	3	18	15	3	0	0	0	0	0	0	1	1	1	1	5	6	1	3	5	6	1	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr15:42362251G>A	ENST00000290472.3	-	19	2180	c.2086C>T	c.(2086-2088)Ccc>Tcc	p.P696S		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	696	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|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 catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGGGGAAGGGCAGCCCCCGG	0.701																																					p.P696S													.	.			0			c.C2086T												23	18	19					15																	42362251		2067	3989	6056	SO:0001583	missense	283748	exon19			GGAAGGGCAGCCC	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.2086C>T	15.37:g.42362251G>A	ENSP00000290472:p.Pro696Ser		30	0	0		25	0.12	3	NM_178034	1	0	0	Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080911	0.76528	.	.	ENSG00000159337	ENST00000290472	T	0.18502	2.21	5.31	5.31	0.75309	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.207467	0.32935	N	0.005462	T	0.22166	0.0534	M	0.67397	2.05	0.50632	D	0.999889	B	0.21381	0.055	B	0.20955	0.032	T	0.01652	-1.1303	10	0.54805	T	0.06	-27.5695	14.3482	0.66680	0.0:0.0:1.0:0.0	.	696	Q86XP0	PA24D_HUMAN	S	696	ENSP00000290472:P696S	ENSP00000290472:P696S	P	-	1	0	PLA2G4D	40149543	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.739000	0.55075	2.765000	0.95021	0.655000	0.94253	CCC			0.701	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419317.1		NM_178034		A	42362251	G	A	42362251	3	1	62	1	0	0	0	0	1	0	0	0	12021	1203	42	2	378	2	PLA2G4D	15	42362251	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		42362251	60169141	51	4468											
PKD1	5310	mdanderson.org	37	chr16	2153892	2153892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagctggccaggtggatgagGtctcctgcagacatgcgtga	8	8	16	9	1	1	3	0	2	1	1	2	5	1	4	2	4	3	2	2	4	0	0	rs542838331		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr16:2153892G>T	ENST00000262304.4	-	23	8374	c.8166C>A	c.(8164-8166)gaC>gaA	p.D2722E	PKD1_ENST00000423118.1_Missense_Mutation_p.D2722E|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2722	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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						GGTGGATGAGGTCTCCTGCAG	0.652																																					p.D2722E													.	.			0			c.C8166A												11	10	10					16																	2153892		2145	4258	6403	SO:0001583	missense	5310	exon23			GATGAGGTCTCCT	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.8166C>A	16.37:g.2153892G>T	ENSP00000262304:p.Asp2722Glu		15	0	0		15	0.13	2	NM_001009944	45	0	0	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776735	0.49786	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.37584	1.19;1.19	4.29	4.29	0.51040	Egg jelly receptor, REJ-like (1);Polycystin cation channel (1);	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.72894	2.215	0.44168	D	0.996971	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.61579	-0.7034	10	0.72032	D	0.01	.	12.5236	0.56073	0.0847:0.0:0.9153:0.0	.	2722;2722	P98161-3;P98161	.;PKD1_HUMAN	E	2722;2722;2057;1001	ENSP00000262304:D2722E;ENSP00000399501:D2722E	ENSP00000262304:D2722E	D	-	3	2	PKD1	2093893	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	3.447000	0.52936	2.207000	0.71202	0.484000	0.47621	GAC			0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341688.1				T	2153892	G	T	2153892	3	4	62	1	0	0	0	0	1	0	0	0	11980	1252	44	3	4841	3	PKD1	16	2153892	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		2153892	88200861	52	4469											
ATP6V0D1	9114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67473035	67473035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgatgatgaaggcgcGgcggtctgcttcaaactgtg	8	10	16	7	3	2	3	1	3	1	0	2	4	2	3	0	4	2	1	0	4	2	1	rs529258503		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr16:67473035G>A	ENST00000290949.3	-	6	805	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.R260C|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.R142C	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	219					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)		ATGAAGGCGCGGCGGTCTGCT	0.587																																					p.R219C													.	.			0			c.C655T												85	90	88					16																	67473035		2198	4300	6498	SO:0001583	missense	9114	exon6			AGGCGCGGCGGTC	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.655C>T	16.37:g.67473035G>A	ENSP00000290949:p.Arg219Cys		40	0	0		47	0.45	21	NM_004691	384	0.45	172	P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593837	0.46214	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	T;T	0.36699	1.24;1.24	4.89	3.88	0.44766	.	0.048620	0.85682	D	0.000000	T	0.66509	0.2796	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.993	T	0.73477	-0.3970	10	0.66056	D	0.02	-17.8777	10.1576	0.42831	0.0:0.0:0.6681:0.3319	.	260;219	F5GYQ1;P61421	.;VA0D1_HUMAN	C	219;142;260	ENSP00000290949:R219C;ENSP00000441282:R260C	ENSP00000290949:R219C	R	-	1	0	ATP6V0D1	66030536	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.566000	0.36396	2.555000	0.86185	0.650000	0.86243	CGC			0.587	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268835.1		NM_004691		A	67473035	G	A	67473035	3	1	62	1	0	0	0	0	1	0	0	0	1173	1116	39	1	412	1	ATP6V0D1	16	67473035	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	65319143	67473035	22881718	53	4470											
PAFAH1B1	5048	bcgsc.ca	37	chr17	2585079	2585080	+	Frame_Shift_Del	DEL	GT	GT	-																															gcgtagatcaaacagtaaaaGtgtgggagtgccgttgattg																										TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	GT	GT					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr17:2585079_2585080delGT	ENST00000397195.5	+	11	1667_1668	c.1216_1217delGT	c.(1216-1218)gtgfs	p.V406fs	RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000572915.2_Intron|RP11-74E22.5_ENST00000610120.1_RNA|PAFAH1B1_ENST00000451360.2_Frame_Shift_Del_p.V201fs	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AACAGTAAAAGTGTGGGAGTGC	0.46																																					p.406_406del													.	PAFAH1B1	26		0			c.1216_1217del																																									SO:0001589	frameshift_variant	5048	exon11			GTAAAAGTGTGGG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1216_1217delGT	17.37:g.2585081_2585082delGT	ENSP00000380378:p.Val406fs		85	0	0		141	0.33	47	NM_000430	224	0	0		Frame_Shift_Del	DEL	ENST00000397195.5	37	CCDS32528.1																																																																																					0.46	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437797.2		NM_000430		-	2585080	GT	-	2585079	7	5	62	1	0	1	0	1	0	0	0	0	11401	1029	36	0	1254	0	PAFAH1B1	17	2585079	Frame_Shift_Del	DEL	GT	TCGA-2G-AAL5-01A-11D-A42Y-10		2585079	78610131	54	4471											
USP6	9098	broad.mit.edu	37	chr17	5050419	5050419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtacaactctcagtgagCggatttttgtgtgcatttga	11	14	10	6	1	1	2	1	2	1	0	2	3	1	3	0	1	4	2	0	1	3	4			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr17:5050419C>A	ENST00000574788.1	+	29	4591	c.2361C>A	c.(2359-2361)agC>agA	p.S787R	USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.S470R|USP6_ENST00000250066.6_Missense_Mutation_p.S787R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	787	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						TCTCAGTGAGCGGATTTTTGT	0.393			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																p.S787R				Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	USP6	213		0			c.C2361A												177	161	167					17																	5050419		2203	4300	6503	SO:0001583	missense	9098	exon21			AGTGAGCGGATTT	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.2361C>A	17.37:g.5050419C>A	ENSP00000460380:p.Ser787Arg		156	0	0		229	0.02	5	NM_004505	0		0	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	0.193	-1.051288	0.01981	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.13901	2.95;2.55	2.5	1.37	0.22104	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.160416	0.64402	D	0.000002	T	0.09598	0.0236	L	0.46741	1.465	0.41195	D	0.986332	P;B	0.47191	0.891;0.23	B;B	0.43331	0.416;0.06	T	0.35748	-0.9776	10	0.02654	T	1	.	5.9701	0.19346	0.0:0.1433:0.0:0.8567	.	470;787	P35125-2;P35125	.;UBP6_HUMAN	R	787;470	ENSP00000250066:S787R;ENSP00000305473:S470R	ENSP00000250066:S787R	S	+	3	2	USP6	4991143	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	0.667000	0.25112	0.190000	0.20209	-1.499000	0.00960	AGC			0.393	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438990.1		NM_004505		A	5050419	C	A	5050419	3	1	62	1	0	0	0	0	1	0	0	0	17110	767	27	1	2439	1	USP6	17	5050419	Missense_Mutation	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	2465340	5050419	76144791	55	4472											
MAP3K3	4215	hgsc.bcm.edu;mdanderson.org	37	chr17	61767648	61767648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccccatcaactggcGccggggaaagctcctgggcc	7	5	13	16	2	1	0	1	0	0	0	2	1	2	1	5	4	3	1	5	4	2	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr17:61767648G>T	ENST00000361733.3	+	12	1408	c.1088G>T	c.(1087-1089)cGc>cTc	p.R363L	MAP3K3_ENST00000361357.3_Missense_Mutation_p.R394L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.R390L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.R394L|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R359L	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.R363L(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						ATCAACTGGCGCCGGGGAAAG	0.517																																					p.R394L													MAP3K3,NS,carcinoma,0,2	MAP3K3	0	2	2	Substitution - Missense(2)	lung(2)	c.G1181T												73	79	77					17																	61767648		2203	4300	6503	SO:0001583	missense	4215	exon13			ACTGGCGCCGGGG	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.1088G>T	17.37:g.61767648G>T	ENSP00000354485:p.Arg363Leu		44	0	0		48	0.06	3	NM_203351	54	0	0	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290811	0.95546	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.66460	-0.21;-0.21	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	T	0.79673	0.4486	L	0.53729	1.69	0.80722	D	1	D;D;P;P	0.76494	0.999;0.999;0.808;0.766	D;D;P;P	0.76575	0.988;0.982;0.474;0.493	T	0.81161	-0.1059	10	0.87932	D	0	.	19.1762	0.93603	0.0:0.0:1.0:0.0	.	359;331;363;394	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	L	394;363	ENSP00000354927:R394L;ENSP00000354485:R363L	ENSP00000354927:R394L	R	+	2	0	MAP3K3	59121380	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.062000	0.89475	2.608000	0.88229	0.561000	0.74099	CGC			0.517	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000443867.1		NM_002401		T	61767648	G	T	61767648	3	4	62	1	0	0	0	0	1	0	0	0	9267	1087	38	1	1231	1	MAP3K3	17	61767648	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	56717229	61767648	19427562	56	4473											
LRRC45	201255	mdanderson.org	37	chr17	79988001	79988001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgcaggcacgggacgagGcgcagggcgcttgcctacag	7	4	18	12	5	0	0	0	0	0	0	0	2	0	1	1	5	2	4	1	5	1	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr17:79988001G>T	ENST00000306688.3	+	15	1897	c.1555G>T	c.(1555-1557)Gcg>Tcg	p.A519S	RAC3_ENST00000306897.4_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	519						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	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)			ACGGGACGAGGCGCAGGGCGC	0.697																																					p.A519S													.	.			0			c.G1555T												9	11	10					17																	79988001		2080	4076	6156	SO:0001583	missense	201255	exon15			GACGAGGCGCAGG	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1555G>T	17.37:g.79988001G>T	ENSP00000306760:p.Ala519Ser		22	0	0		25	0.12	3	NM_144999	115	0	0		Missense_Mutation	SNP	ENST00000306688.3	37	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	G	7.309	0.614626	0.14129	.	.	ENSG00000169683	ENST00000306688	T	0.43294	0.95	4.41	4.41	0.53225	.	0.358447	0.25938	N	0.027323	T	0.37972	0.1023	L	0.48362	1.52	0.38873	D	0.956735	B	0.13594	0.008	B	0.11329	0.006	T	0.25641	-1.0126	9	.	.	.	-0.0971	17.1428	0.86758	0.0:0.0:1.0:0.0	.	519	Q96CN5	LRC45_HUMAN	S	519	ENSP00000306760:A519S	.	A	+	1	0	LRRC45	77581290	1.000000	0.71417	0.983000	0.44433	0.464000	0.32679	3.846000	0.55888	2.296000	0.77279	0.205000	0.17691	GCG			0.697	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442058.1		NM_144999		T	79988001	G	T	79988001	3	4	62	1	0	0	0	0	1	0	0	0	9018	1203	42	2	1613	2	LRRC45	17	79988001	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	18220353	79988001	1207209	57	4474											
RAB12	201475	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	8609900	8609900	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcaagaccagcctgAtggagcgcttcaccgacgac	9	5	14	13	4	1	2	1	1	0	1	1	5	1	3	3	2	2	2	3	2	1	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr18:8609900A>T	ENST00000329286.6	+	1	458	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	59					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						GACCAGCCTGATGGAGCGCTT	0.716																																					p.M59L													.	.			0			c.A175T												16	21	20					18																	8609900		1989	4192	6181	SO:0001583	missense	201475	exon1			AGCCTGATGGAGC		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"RAB, member RAS oncogene"	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.175A>T	18.37:g.8609900A>T	ENSP00000331748:p.Met59Leu		120	0	0		101	0.48	48	NM_001025300	40	0.4	16	A6NEF5|Q4KMQ3	Missense_Mutation	SNP	ENST00000329286.6	37	CCDS42410.1	.	.	.	.	.	.	.	.	.	.	A	9.596	1.127355	0.20959	.	.	ENSG00000206418	ENST00000329286	T	0.72615	-0.67	4.23	3.06	0.35304	Small GTP-binding protein domain (1);	0.115265	0.56097	U	0.000037	T	0.30792	0.0776	N	0.00525	-1.395	0.49798	D	0.999826	B	0.12013	0.005	B	0.12837	0.008	T	0.39333	-0.9619	10	0.02654	T	1	.	9.3659	0.38223	0.9131:0.0:0.0869:0.0	.	59	Q6IQ22	RAB12_HUMAN	L	59	ENSP00000331748:M59L	ENSP00000331748:M59L	M	+	1	0	RAB12	8599900	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.462000	0.73526	0.505000	0.28104	0.352000	0.21897	ATG			0.716	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444080.1		XM_113967		T	8609900	A	T	8609900	3	4	62	1	0	0	0	0	1	0	0	0	12921	333	12	5	177	5	RAB12	18	8609900	Missense_Mutation	SNP	A	TCGA-2G-AAL5-01A-11D-A42Y-10		8609900	69467348	58	4475											
OSBPL1A	114876	mdanderson.org	37	chr18	21914216	21914216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgttttaccagagctGtgagttctgttgttttgcct	4	21	10	6	0	1	2	0	1	1	1	1	2	1	2	2	0	3	6	2	0	1	8			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr18:21914216G>T	ENST00000319481.3	-	6	679	c.473C>A	c.(472-474)aCa>aAa	p.T158K		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	158	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TACCAGAGCTGTGAGTTCTGT	0.323																																					p.T158K													.	.			0			c.C473A												114	105	108					18																	21914216		2203	4297	6500	SO:0001583	missense	114876	exon6			AGAGCTGTGAGTT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.473C>A	18.37:g.21914216G>T	ENSP00000320291:p.Thr158Lys		65	0	0		42	0.07	3	NM_080597	6	0	0	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947490	0.34377	.	.	ENSG00000141447	ENST00000319481	T	0.45276	0.9	4.81	2.79	0.32731	Ankyrin repeat-containing domain (4);	0.580106	0.17944	N	0.156756	T	0.32763	0.0840	L	0.40543	1.245	0.24991	N	0.991537	B	0.18741	0.03	B	0.18561	0.022	T	0.17837	-1.0356	10	0.27082	T	0.32	-1.9488	11.5017	0.50441	0.1106:0.0:0.8894:0.0	.	158	Q9BXW6	OSBL1_HUMAN	K	158	ENSP00000320291:T158K	ENSP00000320291:T158K	T	-	2	0	OSBPL1A	20168214	0.997000	0.39634	0.859000	0.33776	0.982000	0.71751	2.009000	0.40903	0.397000	0.25310	0.655000	0.94253	ACA			0.323	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254902.1		NM_080597		T	21914216	G	T	21914216	3	4	62	1	0	0	0	0	1	0	0	0	11294	1377	48	3	2471	3	OSBPL1A	18	21914216	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	13304316	21914216	56163032	59	4476											
SAFB	6294	broad.mit.edu	37	chr19	5667167	5667167	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccgggggctgcctccTccccccaggtttgtgtccca	3	8	14	16	1	0	0	0	0	0	0	3	1	3	0	7	4	1	2	7	4	0	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr19:5667167T>C	ENST00000292123.5	+	18	2552	c.2445T>C	c.(2443-2445)ccT>ccC	p.P815P	SAFB_ENST00000433404.1_Silent_p.P645P|SAFB_ENST00000588852.1_Silent_p.P815P|SAFB_ENST00000538656.1_Silent_p.P657P|SAFB_ENST00000454510.1_Silent_p.P746P|SAFB_ENST00000592224.1_Silent_p.P814P	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	815	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGCTGCCTCCTCCCCCCAGGT	0.697																																					p.P815P	Colon(88;338 1345 6184 8214 20897)												.	SAFB	74		0			c.T2445C												11	14	13					19																	5667167		2183	4260	6443	SO:0001819	synonymous_variant	6294	exon18			GCCTCCTCCCCCC	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2445T>C	19.37:g.5667167T>C			85	0.1411764706	12		145	0.19	27	NM_002967	849	0	0	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	ENST00000292123.5	37	CCDS12142.1																																																																																					0.697	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000451641.2				C	5667167	T	C	5667167	2	2	62	1	0	0	0	0	0	0	0	1	13829	1538	54	4		4	SAFB	19	5667167	Silent	SNP	T	TCGA-2G-AAL5-01A-11D-A42Y-10		5667167	53461816	60	4477											
DNM2	1785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10908073	10908073	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggacggggctcttcacccCcgacatggcctttgaagcca	8	7	11	15	2	2	1	1	1	1	0	2	3	2	2	4	4	1	1	4	4	1	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr19:10908073C>G	ENST00000355667.6	+	11	1415				DNM2_ENST00000408974.4_Missense_Mutation_p.P405R|DNM2_ENST00000359692.6_Intron|DNM2_ENST00000314646.5_Missense_Mutation_p.P405R|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.P405R	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2						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)			CTCTTCACCCCCGACATGGCC	0.552			"F, N, Splice, Mis, O"		ETP ALL																																p.P405R				Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.			0			c.C1214G												47	46	46					19																	10908073		2203	4300	6503	SO:0001627	intron_variant	1785	exon10			TCACCCCCGACAT		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.1336-1089C>G	19.37:g.10908073C>G			36	0	0		63	0.27	17	NM_001005361	80	0.34	27	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463168	0.84425	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000389253;ENST00000314646	T;T;T	0.75050	-0.9;-0.9;-0.9	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.996;1.0	D	0.93257	0.6640	10	0.87932	D	0	-6.8242	17.7233	0.88358	0.0:1.0:0.0:0.0	.	138;405;405	B4DJ53;A8K1B6;E9PEQ4	.;.;.	R	394;405;405;405	ENSP00000386192:P405R;ENSP00000373905:P405R;ENSP00000313164:P405R	ENSP00000313164:P405R	P	+	2	0	DNM2	10769073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.664000	0.83830	2.488000	0.83962	0.561000	0.74099	CCC			0.552	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000452592.1		NM_004945		G	10908073	C	G	10908073	1	3	62	0	1	0	0	0	0	0	0	0	4677	623	22	5		5	DNM2	19	10908073	Intron	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	5240906	10908073	48220910	61	4478											
TMEM161A	54929	mdanderson.org	37	chr19	19232599	19232599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccctgcttcttcagaagtgGctctaagttctgggtcatgc	6	13	11	11	0	5	1	2	0	3	1	5	1	5	1	1	2	2	3	1	2	2	4			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr19:19232599G>A	ENST00000162044.9	-	7	689	c.625C>T	c.(625-627)Cca>Tca	p.P209S	TMEM161A_ENST00000587583.2_Missense_Mutation_p.P184S|TMEM161A_ENST00000450333.2_Missense_Mutation_p.P106S	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	209					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TTCAGAAGTGGCTCTAAGTTC	0.607																																					p.P209S													.	.			0			c.C625T												70	67	68					19																	19232599		2203	4300	6503	SO:0001583	missense	54929	exon7			GAAGTGGCTCTAA	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.625C>T	19.37:g.19232599G>A	ENSP00000162044:p.Pro209Ser		42	0	0		42	0.07	3	NM_017814	117	0	0	B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	G	8.340	0.828487	0.16749	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.84	3.72	0.42706	.	0.368557	0.29424	N	0.012187	T	0.21427	0.0516	N	0.25647	0.755	0.33875	D	0.635417	B;P;B	0.39862	0.386;0.692;0.31	B;B;B	0.34242	0.178;0.138;0.134	T	0.16719	-1.0393	9	0.08599	T	0.76	.	7.4825	0.27413	0.0:0.1814:0.6314:0.1872	.	106;106;209	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	S	106;209	.	ENSP00000162044:P209S	P	-	1	0	TMEM161A	19093599	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	1.468000	0.35332	2.257000	0.74773	0.591000	0.81541	CCA			0.607	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460089.2		NM_017814		A	19232599	G	A	19232599	3	1	62	1	0	0	0	0	1	0	0	0	16099	1203	42	2	838	2	TMEM161A	19	19232599	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	8324526	19232599	39896384	62	4479											
ZNF565	147929	broad.mit.edu;bcgsc.ca	37	chr19	36673726	36673728	+	In_Frame_Del	DEL	TGT	TGT	-																															cgccagtatggactctctgaTgtcgtgtgagctgtgcgtgc																								rs139214220		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr19:36673726_36673728delTGT	ENST00000355114.5	-	5	1986_1988	c.1260_1262delACA	c.(1258-1263)cgacat>cgt	p.H421del	ZNF565_ENST00000304116.5_In_Frame_Del_p.H381del|ZNF565_ENST00000392173.2_In_Frame_Del_p.H381del			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	421					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)			GACTCTCTGATGTCGTGTGAGCT	0.463																																					p.380_381del													.	ZNF565	46		0			c.1140_1142del																																									SO:0001651	inframe_deletion	147929	exon5			CTCTGATGTCGTG	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.1260_1262delACA	19.37:g.36673726_36673728delTGT	ENSP00000347234:p.His421del		58	0	0		69	0.25	17	NM_001042474	39	0	0	B3KQ35|Q6NUS2	In_Frame_Del	DEL	ENST00000355114.5	37																																																																																						0.463	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000451697.1		NM_152477		-	36673728	TGT	-	36673726	7	5	62	1	0	1	0	1	0	0	0	0	18019	1464	51	0	361	0	ZNF565	19	36673726	In_Frame_Del	DEL	TGT	TCGA-2G-AAL5-01A-11D-A42Y-10	17441127	36673726	22455257	63	4480	6	2									
ZNF565	147929	broad.mit.edu;bcgsc.ca	37	chr19	36673730	36673734	+	Frame_Shift_Del	DEL	GTGTG	GTGTG	-																															agtatggactctctgatgtcGtgtgagctgtgcgtgctgtc																										TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	GTGTG	GTGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr19:36673730_36673734delGTGTG	ENST00000355114.5	-	5	1980_1984	c.1254_1258delCACAC	c.(1252-1260)ctcacacgafs	p.TR419fs	ZNF565_ENST00000304116.5_Frame_Shift_Del_p.TR379fs|ZNF565_ENST00000392173.2_Frame_Shift_Del_p.TR379fs			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	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)|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)			CTCTGATGTCGTGTGAGCTGTGCGT	0.463																																					p.378_380del													.	ZNF565	46		0			c.1134_1138del																																									SO:0001589	frameshift_variant	147929	exon5			GATGTCGTGTGAG	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.1254_1258delCACAC	19.37:g.36673730_36673734delGTGTG	ENSP00000347234:p.Thr419fs		60	0	0		67	0.25	17	NM_001042474	32	0	0	B3KQ35|Q6NUS2	Frame_Shift_Del	DEL	ENST00000355114.5	37																																																																																						0.463	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000451697.1		NM_152477		-	36673734	GTGTG	-	36673730	7	5	62	1	0	1	0	1	0	0	0	0	18019	1153	40	0	365	0	ZNF565	19	36673730	Frame_Shift_Del	DEL	GTGTG	TCGA-2G-AAL5-01A-11D-A42Y-10	4	36673730	22455253	64	4481	6	2									
PNMAL2	57469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	46997528	46997528	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgcgcaggaccacggCgtccacctcgcggcccgcct	4	5	13	19	6	0	0	0	0	0	0	2	1	1	1	6	4	1	1	6	4	0	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr19:46997528C>T	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000599531.1_Missense_Mutation_p.A399T			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGGACCACGGCGTCCACCTCG	0.667																																					p.A399T													.	.			0			c.G1195A												13	15	14					19																	46997528		1945	4108	6053	SO:0001627	intron_variant	57469	exon1			CCACGGCGTCCAC	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+460G>A	19.37:g.46997528C>T			27	0	0		35	0.26	9	NM_020709	15	0.2	3	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37																																																																																						0.667	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding				NM_020709		T	46997528	C	T	46997528	1	4	62	0	1	0	0	0	0	0	0	0	12175	768	27	1		1	PNMAL2	19	46997528	Intron	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	10323798	46997528	12131455	65	4482											
LAMA5	3911	broad.mit.edu;mdanderson.org	37	chr20	60887507	60887507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtcgtgttcagccgcttGaggtccacatacttgcccag	6	11	10	14	2	1	1	1	1	0	0	3	1	2	1	4	1	3	2	4	1	1	4			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr20:60887507G>A	ENST00000252999.3	-	68	9375	c.9309C>T	c.(9307-9309)ctC>ctT	p.L3103L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3103	Laminin G-like 2. {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)			TCAGCCGCTTGAGGTCCACAT	0.682																																					p.L3103L													.	LAMA5	268		0			c.C9309T												43	39	40					20																	60887507		2190	4296	6486	SO:0001819	synonymous_variant	3911	exon68			CCGCTTGAGGTCC	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.9309C>T	20.37:g.60887507G>A			9	0	0		8	0.5	4	NM_005560	279	0.47	131	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																					0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		A	60887507	G	A	60887507	2	1	62	1	0	0	0	0	0	0	0	1	8624	1277	45	3		3	LAMA5	20	60887507	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		60887507	2138013	66	4483											
MX2	4600	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	42767524	42767524	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcacaggtatcctgacCaaaccagatctaatggacag	14	8	7	12	0	2	2	1	1	2	1	4	3	3	3	3	2	1	1	3	2	3	2			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chr21:42767524C>A	ENST00000330714.3	+	7	1066	c.882C>A	c.(880-882)acC>acA	p.T294T	MX2_ENST00000496774.1_3'UTR|MX2_ENST00000543692.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	294	Dynamin-type G.				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)				GTATCCTGACCAAACCAGATC	0.493																																					p.T294T													.	MX2	84		0			c.C882A												105	87	94					21																	42767524		2203	4300	6503	SO:0001819	synonymous_variant	4600	exon7			CCTGACCAAACCA		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.882C>A	21.37:g.42767524C>A			193	0	0		243	0.04	9	NM_002463	10	0	0	B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	CCDS13672.1																																																																																					0.493	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195147.1		NM_002463		A	42767524	C	A	42767524	2	1	62	1	0	0	0	0	0	0	0	1	10014	581	21	3		3	MX2	21	42767524	Silent	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10		42767524	5362371	67	4484											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	15	1	25	0	0	0	2	0	1	0	1	0	14	0	12	0	11	0	0	0	11	1	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					p.E184D	Melanoma(171;120 2705 19495 39241)												.	RBM10	117		0			c.G552T												20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241	exon4			GGAGGAGGATGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp		46	0	0		77	0.05	4	NM_001204468	14	0	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG			0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676		T	47030582	G	T	47030582	3	4	62	1	0	0	0	0	1	0	0	0	13134	991	35	3	367	3	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10		47030582	108239978	68	4485											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240		TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					p.E69E	NSCLC(90;1817 2035 37909 38249)												.	NUDT10	28		8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	c.G207A												52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			CGAAGAGGCGGGA	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			148	0.0135135135	2		256	0.02	6	NM_153183	47	0	0	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																					0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056578.1		NM_153183		A	51076024	G	A	51076024	2	1	62	1	0	0	0	0	0	0	0	1	10743	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	4045442	51076024	104194536	69	4486											
HMGB3	3149	mdanderson.org	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				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)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																					p.E192E													.	.			1	Substitution - coding silent(1)	large_intestine(1)	c.G576A												50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149	exon5			AGAAGAGGAGGAG	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.576G>A	X.37:g.150156360G>A			10	0	0		16	0.13	2	NM_005342	164	0.01	2	O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	CCDS35428.1																																																																																					0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060867.1		NM_005342		A	150156360	G	A	150156360	2	1	62	1	0	0	0	0	0	0	0	1	7242	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-2G-AAL5-01A-11D-A42Y-10	99080336	150156360	5114200	70	4487											
FLNA	2316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153583390	153583390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccgccttagtgtccaCagtgatcaccgtctcctccc	5	10	8	18	2	2	1	1	1	1	0	5	1	4	1	7	0	1	0	7	0	1	1			TCGA-2G-AAL5-01A-11D-A42Y-10	TCGA-2G-AAL5-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	171689da-01a4-40f0-81f1-2e31c2e22def	89d0a1e3-1b77-413f-aa1f-f31cc665e959	g.chrX:153583390C>G	ENST00000369850.3	-	31	5256	c.5020G>C	c.(5020-5022)Gtg>Ctg	p.V1674L	FLNA_ENST00000422373.1_Missense_Mutation_p.V1666L|FLNA_ENST00000344736.4_Missense_Mutation_p.V1666L|FLNA_ENST00000360319.4_Missense_Mutation_p.V1666L|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1674					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)					TTAGTGTCCACAGTGATCACC	0.637											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.V1674L													.	.			0			c.G5020C												63	63	63					X																	153583390		2157	4226	6383	SO:0001583	missense	2316	exon31			TGTCCACAGTGAT	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.5020G>C	X.37:g.153583390C>G	ENSP00000358866:p.Val1674Leu		90	0	0	1756	118	0.45	53	NM_001110556	1418	0.46	652	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182738	0.78677	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.96540	0.8871	M	0.78801	2.425	0.80722	D	1	D;P	0.63880	0.993;0.926	D;P	0.66716	0.946;0.888	D	0.96852	0.9626	10	0.66056	D	0.02	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	1666;1674	P21333-2;P21333	.;FLNA_HUMAN	L	1666;1647;1666;1674;1666	ENSP00000353467:V1666L;ENSP00000416926:V1666L;ENSP00000358866:V1674L;ENSP00000358863:V1666L	ENSP00000358863:V1666L	V	-	1	0	FLNA	153236584	1.000000	0.71417	0.967000	0.41034	0.616000	0.37450	7.779000	0.85648	2.306000	0.77630	0.513000	0.50165	GTG			0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058942.3				G	153583390	C	G	153583390	3	3	62	1	0	0	0	0	1	0	0	0	5946	478	17	5	2995	5	FLNA	23	153583390	Missense_Mutation	SNP	C	TCGA-2G-AAL5-01A-11D-A42Y-10	3427030	153583390	1687170	71	4488											
LYPLA2	11313	mdanderson.org	37	chr1	24120782	24120782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggcatcgtggcgttgagCtgctggctgcctctgcaccg	3	10	15	13	3	1	1	0	1	1	0	2	1	1	1	2	3	4	7	2	3	0	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:24120782C>T	ENST00000374514.3	+	8	745	c.438C>T	c.(436-438)agC>agT	p.S146S	LYPLA2_ENST00000374502.3_Silent_p.S146S|LYPLA2_ENST00000374505.2_Silent_p.L122L|LYPLA2_ENST00000374503.3_Silent_p.S146S|LYPLA2_ENST00000374501.1_Silent_p.S79S|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000400061.1_Silent_p.L122L	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	146					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGGCGTTGAGCTGCTGGCTGC	0.687																																					p.S146S													.	.			0			c.C438T												39	42	41					1																	24120782		2203	4298	6501	SO:0001819	synonymous_variant	11313	exon8			GTTGAGCTGCTGG	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.438C>T	1.37:g.24120782C>T			31	0	0		30	0.1	3	NM_007260	216	0	0	Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	CCDS241.1																																																																																					0.687	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008245.1				T	24120782	C	T	24120782	2	4	63	1	0	0	0	0	0	0	0	1	9133	796	28	2		2	LYPLA2	1	24120782	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10		24120782	225129839	1	4489											
TACSTD2	4070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	59042191	59042191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatatccacgtcaccggcgGccttctgagacgtgttctgc	6	10	11	14	5	3	1	1	1	2	1	4	3	4	1	3	2	1	1	3	2	1	3			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:59042191G>A	ENST00000371225.2	-	1	975	c.638C>T	c.(637-639)gCc>gTc	p.A213V		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	213					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					GTCACCGGCGGCCTTCTGAGA	0.647																																					p.A213V													.	.			0			c.C638T												14	16	16					1																	59042191		2199	4293	6492	SO:0001583	missense	4070	exon1			CCGGCGGCCTTCT	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.638C>T	1.37:g.59042191G>A	ENSP00000360269:p.Ala213Val		78	0	0		126	0.25	32	NM_002353	10	0.1	1	Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	CCDS609.1	.	.	.	.	.	.	.	.	.	.	G	2.708	-0.269448	0.05716	.	.	ENSG00000184292	ENST00000371225	T	0.77750	-1.12	4.64	-2.56	0.06268	.	0.529435	0.19508	N	0.112568	T	0.51210	0.1661	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25572	-1.0128	10	0.25106	T	0.35	-6.9924	1.8189	0.03106	0.3143:0.1236:0.4352:0.1268	.	213	P09758	TACD2_HUMAN	V	213	ENSP00000360269:A213V	ENSP00000360269:A213V	A	-	2	0	TACSTD2	58814779	0.000000	0.05858	0.115000	0.21578	0.019000	0.09904	-0.021000	0.12504	-0.763000	0.04658	-1.263000	0.01449	GCC			0.647	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027818.1		NM_002353		A	59042191	G	A	59042191	3	1	63	1	0	0	0	0	1	0	0	0	15531	1203	42	2	337	2	TACSTD2	1	59042191	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	34921409	59042191	190208430	2	4490											
CHRNB2	1141	mdanderson.org	37	chr1	154544408	154544408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgacgccagcgtgagcGcgagggcgctggagccctct	5	4	18	14	7	1	1	0	1	1	0	1	4	1	2	2	3	3	1	2	3	0	0	rs200483865		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:154544408G>T	ENST00000368476.3	+	5	1373	c.1109G>T	c.(1108-1110)cGc>cTc	p.R370L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	370					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|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)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CAGCGTGAGCGCGAGGGCGCT	0.706																																					p.R370L													.	.			0			c.G1109T												8	6	7					1																	154544408		2114	4087	6201	SO:0001583	missense	1141	exon5			GTGAGCGCGAGGG	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1109G>T	1.37:g.154544408G>T	ENSP00000357461:p.Arg370Leu		16	0	0		15	0.2	3	NM_000748	0		0	Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873577	0.17322	.	.	ENSG00000160716	ENST00000368476	D	0.85088	-1.94	3.97	1.82	0.25136	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.437610	0.03938	N	0.286389	T	0.41143	0.1146	N	0.00788	-1.185	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.38023	-0.9680	10	0.23891	T	0.37	.	9.0395	0.36309	0.1:0.1554:0.7446:0.0	.	370	P17787	ACHB2_HUMAN	L	370	ENSP00000357461:R370L	ENSP00000357461:R370L	R	+	2	0	CHRNB2	152811032	0.000000	0.05858	0.287000	0.24848	0.486000	0.33341	0.042000	0.13949	0.822000	0.34565	0.313000	0.20887	CGC			0.706	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090697.1		NM_000748		T	154544408	G	T	154544408	3	4	63	1	0	0	0	0	1	0	0	0	3393	1087	38	1	1127	1	CHRNB2	1	154544408	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	95502217	154544408	94706213	3	4491											
ATP1A2	477	mdanderson.org	37	chr1	160109764	160109764	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaaagctcatcctgcggcgGtatcctggtggtaagcccct	7	9	12	13	3	1	0	1	0	0	0	3	1	3	0	4	4	3	3	4	4	3	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:160109764G>T	ENST00000361216.3	+	22	3113	c.3024G>T	c.(3022-3024)cgG>cgT	p.R1008R	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.R997R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1008					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)			TCCTGCGGCGGTATCCTGGTG	0.582																																					p.R1008R													ATP1A2,NS,carcinoma,+2,3	ATP1A2	2	3	0			c.G3024T												113	102	106					1																	160109764		2203	4300	6503	SO:0001819	synonymous_variant	477	exon22			GCGGCGGTATCCT	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.3024G>T	1.37:g.160109764G>T			55	0.0363636364	2		49	0.06	3	NM_000702	3	0	0	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842655	0.16963	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.37	-6.69	0.01772	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43015	-0.9417	4	.	.	.	.	1.2751	0.02029	0.1861:0.2378:0.3418:0.2343	.	.	.	.	V	702	.	.	G	+	2	0	ATP1A2	158376388	0.000000	0.05858	0.949000	0.38748	0.896000	0.52359	-1.158000	0.03153	-0.972000	0.03559	-0.982000	0.02568	GGT			0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060642.2		NM_000702		T	160109764	G	T	160109764	2	4	63	1	0	0	0	0	0	0	0	1	1129	1248	44	3		3	ATP1A2	1	160109764	Silent	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	5565356	160109764	89140857	4	4492											
MAEL	84944	mdanderson.org	37	chr1	166961963	166961963	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattttttgaacatttttagCcatggcgagctacctcctca	9	16	6	10	1	1	1	1	1	0	0	2	2	2	1	3	1	4	1	3	1	4	8			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:166961963C>T	ENST00000367872.4	+	4	610	c.366C>T	c.(364-366)agC>agT	p.S122S	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.S91S	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	122					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACATTTTTAGCCATGGCGAGC	0.363																																					p.S122S													.	.			0			c.C366T												75	76	76					1																	166961963		2203	4300	6503	SO:0001819	synonymous_variant	84944	exon4			TTTTAGCCATGGC	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.366C>T	1.37:g.166961963C>T			61	0	0		42	0.07	3	NM_032858	3	0	0	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	CCDS1257.1																																																																																					0.363	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083239.1		NM_032858		T	166961963	C	T	166961963	2	4	63	1	0	0	0	0	0	0	0	1	9170	738	26	2		2	MAEL	1	166961963	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	6852199	166961963	82288658	5	4493											
CRB1	23418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	197390687	197390687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaggtaatatttgcagagGctgtgacccttaccttaatc	10	13	10	8	0	0	2	0	1	0	1	1	3	0	3	2	3	2	3	2	3	4	5	rs377023757		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:197390687G>T	ENST00000367400.3	+	6	1864	c.1729G>T	c.(1729-1731)Gct>Tct	p.A577S	CRB1_ENST00000535699.1_Missense_Mutation_p.A508S|CRB1_ENST00000544212.1_Missense_Mutation_p.A58S|CRB1_ENST00000367399.2_Missense_Mutation_p.A465S|CRB1_ENST00000538660.1_Missense_Mutation_p.A577S|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	577	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						ATTTGCAGAGGCTGTGACCCT	0.433																																					p.A577S													.	.			0			c.G1729T												121	119	119					1																	197390687		2203	4300	6503	SO:0001583	missense	23418	exon6			GCAGAGGCTGTGA		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.1729G>T	1.37:g.197390687G>T	ENSP00000356370:p.Ala577Ser		86	0	0		87	0.15	13	NM_001257966	0		0	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	8.752	0.921536	0.17982	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.69	0.158	0.14942	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.69061	0.3069	L	0.58302	1.8	0.09310	N	1	B;B;B;B;B	0.31351	0.32;0.313;0.066;0.082;0.243	B;B;B;B;B	0.37601	0.179;0.124;0.049;0.058;0.254	T	0.54009	-0.8357	9	0.07644	T	0.81	.	5.7458	0.18120	0.408:0.1277:0.4643:0.0	.	577;508;465;226;577	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	S	508;577;577;465;58;226	ENSP00000438786:A508S;ENSP00000438091:A577S;ENSP00000356370:A577S;ENSP00000356369:A465S;ENSP00000444556:A58S	ENSP00000356369:A465S	A	+	1	0	CRB1	195657310	0.003000	0.15002	0.002000	0.10522	0.208000	0.24298	0.133000	0.15912	-0.236000	0.09753	-0.262000	0.10625	GCT			0.433	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086565.2		NM_201253		T	197390687	G	T	197390687	3	4	63	1	0	0	0	0	1	0	0	0	3850	1203	42	2	1751	2	CRB1	1	197390687	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	30428724	197390687	51859934	6	4494											
NEK7	140609	mdanderson.org	37	chr1	198288648	198288648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgcatgcactgcaagcaGctaaacatgcaagatcatga	15	7	9	10	0	1	2	1	1	0	1	1	2	1	2	0	0	7	7	0	0	4	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:198288648G>T	ENST00000367385.4	+	10	1247	c.905G>T	c.(904-906)aGc>aTc	p.S302I	NEK7_ENST00000538004.1_Missense_Mutation_p.S302I	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	302					cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						ACTGCAAGCAGCTAAACATGC	0.398																																					p.S302I													.	.			0			c.G905T												81	73	75					1																	198288648		2203	4299	6502	SO:0001583	missense	140609	exon10			CAAGCAGCTAAAC	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.905G>T	1.37:g.198288648G>T	ENSP00000356355:p.Ser302Ile		40	0	0		41	0.07	3	NM_133494	5	0	0	A6NGT8	Missense_Mutation	SNP	ENST00000367385.4	37	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798649	0.50208	.	.	ENSG00000151414	ENST00000367385;ENST00000538004	T;T	0.70869	-0.52;-0.52	5.54	3.64	0.41730	.	0.188948	0.56097	D	0.000037	T	0.61413	0.2345	L	0.27053	0.805	0.80722	D	1	P	0.49307	0.922	B	0.42625	0.393	T	0.65809	-0.6078	10	0.72032	D	0.01	.	16.2637	0.82563	0.0:0.2498:0.7502:0.0	.	302	Q8TDX7	NEK7_HUMAN	I	302	ENSP00000356355:S302I;ENSP00000444621:S302I	ENSP00000356355:S302I	S	+	2	0	NEK7	196555271	1.000000	0.71417	0.997000	0.53966	0.638000	0.38207	4.616000	0.61197	0.674000	0.31244	0.650000	0.86243	AGC			0.398	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086550.2		NM_133494		T	198288648	G	T	198288648	3	4	63	1	0	0	0	0	1	0	0	0	10346	971	34	2	939	2	NEK7	1	198288648	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	897961	198288648	50961973	7	4495											
KLHDC8A	55220	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	205307669	205307669	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcagagagccagccacAaaatctgcccgccgcttctt	10	7	7	17	2	3	1	1	0	2	1	3	2	3	1	5	0	3	1	5	0	2	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:205307669A>C	ENST00000367156.3	-	8	1629	c.813T>G	c.(811-813)ttT>ttG	p.F271L	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.F271L|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.F271L|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.F137L|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.F158L	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	271										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCCAGCCACAAAATCTGCCC	0.502																																					p.F271L													.	.			0			c.T813G												81	77	79					1																	205307669		2203	4300	6503	SO:0001583	missense	55220	exon5			AGCCACAAAATCT		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.813T>G	1.37:g.205307669A>C	ENSP00000356124:p.Phe271Leu		82	0	0		84	0.32	27	NM_018203	4	0	0	B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444408	0.63178	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.45	1.82	0.25136	Kelch-type beta propeller (1);	0.048301	0.85682	D	0.000000	T	0.72447	0.3461	L	0.45422	1.42	0.48975	D	0.999734	D;B	0.56035	0.974;0.025	D;B	0.70487	0.969;0.047	T	0.65195	-0.6227	10	0.14252	T	0.57	-11.9288	9.0193	0.36191	0.6886:0.0:0.3114:0.0	.	158;271	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	L	271;271;271;158	ENSP00000356123:F271L;ENSP00000356124:F271L;ENSP00000442229:F271L;ENSP00000443447:F158L	ENSP00000356123:F271L	F	-	3	2	KLHDC8A	203574292	0.977000	0.34250	1.000000	0.80357	0.614000	0.37383	0.251000	0.18257	0.054000	0.16065	-0.290000	0.09829	TTT			0.502	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090397.1		NM_018203		C	205307669	A	C	205307669	3	2	63	1	0	0	0	0	1	0	0	0	8377	127	5	4	247	4	KLHDC8A	1	205307669	Missense_Mutation	SNP	A	TCGA-2G-AAL7-01A-11D-A42Y-10	7019021	205307669	43942952	8	4496											
WNT9A	7483	mdanderson.org	37	chr1	228112986	228112986	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcttgagcaggctggcccgGtagcggccctccagcgtgca	5	6	15	15	4	0	1	0	1	0	0	1	1	1	1	3	4	4	5	3	4	1	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:228112986G>A	ENST00000272164.5	-	2	340	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	110					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GGCTGGCCCGGTAGCGGCCCT	0.672																																					p.Y110Y													.	.			0			c.C330T												8	8	8					1																	228112986		2154	4230	6384	SO:0001819	synonymous_variant	7483	exon2			GGCCCGGTAGCGG	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.330C>T	1.37:g.228112986G>A			37	0	0		35	0.09	3	NM_003395	9	0	0	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	CCDS31045.1																																																																																					0.672	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091646.1		NM_003395		A	228112986	G	A	228112986	2	1	63	1	0	0	0	0	0	0	0	1	17422	1256	44	3		3	WNT9A	1	228112986	Silent	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	22805317	228112986	21137635	9	4497											
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	235904732	235904732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatacttacttgtagggatGggctgagacagtctcgtagt	10	12	13	6	1	1	2	0	1	1	2	2	4	1	3	0	2	2	3	0	2	4	5			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr1:235904732G>A	ENST00000389794.3	-	31	8522	c.8348C>T	c.(8347-8349)cCa>cTa	p.P2783L	LYST_ENST00000389793.2_Missense_Mutation_p.P2783L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2783					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)			TTGTAGGGATGGGCTGAGACA	0.368																																					p.P2783L													.	.			0			c.C8348T												186	171	176					1																	235904732		2203	4300	6503	SO:0001583	missense	1130	exon31			AGGGATGGGCTGA	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.8348C>T	1.37:g.235904732G>A	ENSP00000374444:p.Pro2783Leu		90	0	0		94	0.32	30	NM_000081	0		0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357198	0.41801	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64260	-0.09;-0.09	5.26	3.31	0.37934	.	0.154593	0.64402	D	0.000015	T	0.59376	0.2189	M	0.70595	2.14	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.61893	-0.6969	10	0.72032	D	0.01	.	10.3315	0.43825	0.0718:0.0:0.795:0.1332	.	2783	Q99698	LYST_HUMAN	L	2783	ENSP00000374444:P2783L;ENSP00000374443:P2783L	ENSP00000374443:P2783L	P	-	2	0	LYST	233971355	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	4.659000	0.61504	1.188000	0.43014	0.479000	0.44913	CCA			0.368	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097533.5				A	235904732	G	A	235904732	3	1	63	1	0	0	0	0	1	0	0	0	9144	1348	47	3	3149	3	LYST	1	235904732	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	7791746	235904732	13345889	10	4498											
PXDN	7837	hgsc.bcm.edu	37	chr2	1677521	1677521	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgtctcctgtgtgttctgGatcatcagggtcccatcgtc	4	15	10	12	1	5	0	2	0	3	0	9	1	6	1	2	2	0	1	2	2	0	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr2:1677521G>T	ENST00000252804.4	-	9	962	c.912C>A	c.(910-912)atC>atA	p.I304I	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	304	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTGTGTTCTGGATCATCAGGG	0.507																																					p.I304I													.	.			0			c.C912A												160	164	163					2																	1677521		2078	4221	6299	SO:0001819	synonymous_variant	7837	exon9			GTTCTGGATCATC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.912C>A	2.37:g.1677521G>T			128	0	0		98	0.04	4	NM_012293	13	0	0	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	9.401	1.078094	0.20227	.	.	ENSG00000130508	ENST00000433670	.	.	.	5.25	0.769	0.18492	.	.	.	.	.	T	0.58308	0.2113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52555	-0.8560	4	.	.	.	-41.645	10.2604	0.43423	0.3784:0.0:0.6216:0.0	.	.	.	.	Y	300	.	.	S	-	2	0	PXDN	1656528	1.000000	0.71417	0.998000	0.56505	0.809000	0.45718	1.973000	0.40550	0.159000	0.19401	0.561000	0.74099	TCC			0.507	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322505.1		XM_056455		T	1677521	G	T	1677521	2	4	63	1	0	0	0	0	0	0	0	1	12870	1164	41	3		3	PXDN	2	1677521	Silent	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		1677521	241521852	11	4499											
SH3RF3	344558	mdanderson.org	37	chr2	109746264	109746264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcatcgtgtgctcgcgcCacgagctgcgctgccccgag	6	6	14	15	6	0	1	0	0	0	1	2	3	0	1	3	0	5	4	3	0	0	0			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr2:109746264C>T	ENST00000309415.6	+	1	268	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	SH3RF3-AS1_ENST00000567491.1_lincRNA	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	90							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GTGCTCGCGCCACGAGCTGCG	0.672																																					p.H90Y													.	.			0			c.C268T												7	11	10					2																	109746264		1924	3598	5522	SO:0001583	missense	344558	exon1			TCGCGCCACGAGC	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.268C>T	2.37:g.109746264C>T	ENSP00000309186:p.His90Tyr		23	0	0		16	0.13	2	NM_001099289	1	0	0	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	c	11.54	1.669696	0.29693	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	D;D	0.93426	-3.22;-3.22	3.91	3.91	0.45181	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.93122	0.7810	.	.	.	0.27063	N	0.963508	P	0.48589	0.912	P	0.49887	0.625	D	0.87499	0.2432	8	0.59425	D	0.04	.	10.8507	0.46769	0.1892:0.8108:0.0:0.0	.	90	Q8TEJ3	SH3R3_HUMAN	Y	90	ENSP00000414997:H90Y;ENSP00000309186:H90Y	ENSP00000309186:H90Y	H	+	1	0	SH3RF3	109112696	0.964000	0.33143	0.995000	0.50966	0.087000	0.18053	2.544000	0.45761	1.711000	0.51337	0.457000	0.33378	CAC			0.672	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001099289		T	109746264	C	T	109746264	3	4	63	1	0	0	0	0	1	0	0	0	14283	594	21	3	270	3	SH3RF3	2	109746264	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	108068743	109746264	133453109	12	4500											
TTN	7273	mdanderson.org	37	chr2	179442124	179442124	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcctgccttggaccaacTtgattttggaaggggtttgc	6	16	11	8	0	0	1	0	1	0	0	1	3	1	3	3	4	3	1	3	4	2	7			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr2:179442124T>C	ENST00000591111.1	-	274	64239	c.64015A>G	c.(64015-64017)Agt>Ggt	p.S21339G	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14107G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S20412G|TTN_ENST00000589042.1_Missense_Mutation_p.S22980G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14040G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S13915G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21339	Ig-like 113.				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)			TTGGACCAACTTGATTTTGGA	0.403																																					p.S22980G													.	.			0			c.A68938G												108	96	100					2																	179442124		1872	4111	5983	SO:0001583	missense	7273	exon324			ACCAACTTGATTT	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.64015A>G	2.37:g.179442124T>C	ENSP00000465570:p.Ser21339Gly		42	0.0238095238	1		39	0.08	3	NM_001267550	10	0	0	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		.	.	.	.	.	.	.	.	.	.	T	11.83	1.754500	0.31046	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.72	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66208	0.2766	M	0.71206	2.165	0.27310	N	0.957331	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	0.62258	-0.6892	9	0.87932	D	0	.	5.4501	0.16560	0.0:0.3624:0.0:0.6376	.	13915;14040;14107;21339	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	20412;13915;14107;14040;13913	ENSP00000343764:S20412G;ENSP00000434586:S13915G;ENSP00000340554:S14107G;ENSP00000352154:S14040G	ENSP00000340554:S14107G	S	-	1	0	TTN	179150370	0.978000	0.34361	0.998000	0.56505	0.998000	0.95712	2.972000	0.49256	1.116000	0.41820	0.533000	0.62120	AGT			0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		C	179442124	T	C	179442124	3	2	63	1	0	0	0	0	1	0	0	0	16759	1609	56	4	39197	4	TTN	2	179442124	Missense_Mutation	SNP	T	TCGA-2G-AAL7-01A-11D-A42Y-10	69695860	179442124	63757249	13	4501											
CLK1	1195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	201721420	201721420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcacctaaaataacttcagGtgctctataatgtcttgtag	12	14	6	9	0	4	0	2	0	2	0	4	0	4	0	1	1	2	2	1	1	6	7			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr2:201721420G>A	ENST00000321356.4	-	9	1177	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	CLK1_ENST00000409769.2_Missense_Mutation_p.P171S|CLK1_ENST00000434813.2_Missense_Mutation_p.P390S	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	348	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						ATAACTTCAGGTGCTCTATAA	0.323																																					p.P390S													.	.			0			c.C1168T												131	127	129					2																	201721420		2203	4300	6503	SO:0001583	missense	1195	exon9			CTTCAGGTGCTCT	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.1042C>T	2.37:g.201721420G>A	ENSP00000326830:p.Pro348Ser		283	0	0		254	0.28	72	NM_001162407	70	0.21	15	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434740	0.83885	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.70869	-0.52;-0.52;-0.52	4.93	4.93	0.64822	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	0.90954	0.7156	H	0.99211	4.47	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;0.999;1.0	D	0.94661	0.7848	10	0.87932	D	0	.	16.2642	0.82565	0.0:0.0:1.0:0.0	.	390;318;348;171	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	S	348;318;171;390	ENSP00000326830:P348S;ENSP00000386358:P171S;ENSP00000394734:P390S	ENSP00000326830:P348S	P	-	1	0	CLK1	201429665	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.734000	0.98822	2.449000	0.82847	0.491000	0.48974	CCT			0.323	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256192.2				A	201721420	G	A	201721420	3	1	63	1	0	0	0	0	1	0	0	0	3538	1261	44	3	432	3	CLK1	2	201721420	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	22279296	201721420	41477953	14	4502											
NDUFS1	4719	broad.mit.edu	37	chr2	207009656	207009656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcattgatgtcctcatGcatacgtggcaaaatcctca	10	13	6	12	1	4	1	3	1	1	0	6	1	6	1	2	1	2	2	2	1	3	3			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr2:207009656G>A	ENST00000233190.6	-	9	1098	c.832C>T	c.(832-834)Cat>Tat	p.H278Y	NDUFS1_ENST00000455934.2_Missense_Mutation_p.H292Y|NDUFS1_ENST00000423725.1_Missense_Mutation_p.H221Y|NDUFS1_ENST00000457011.1_Missense_Mutation_p.H162Y|NDUFS1_ENST00000440274.1_Missense_Mutation_p.H242Y|NDUFS1_ENST00000432169.1_Missense_Mutation_p.H167Y|NDUFS1_ENST00000449699.1_Missense_Mutation_p.H278Y	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	278	4Fe-4S Mo/W bis-MGD-type. {ECO:0000255|PROSITE-ProRule:PRU01004}.				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						ATGTCCTCATGCATACGTGGC	0.343																																					p.H292Y													.	NDUFS1	82		0			c.C874T												185	152	163					2																	207009656		2203	4300	6503	SO:0001583	missense	4719	exon9			CCTCATGCATACG		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.832C>T	2.37:g.207009656G>A	ENSP00000233190:p.His278Tyr		170	0	0		166	0.03	5	NM_001199984	55	0	0	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069433	0.76301	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.47	5.47	0.80525	.	0.094982	0.64402	D	0.000001	D	0.90525	0.7031	M	0.75447	2.3	0.52501	D	0.999951	D;P;D;P	0.56746	0.977;0.939;0.966;0.939	P;B;P;P	0.54815	0.761;0.392;0.616;0.616	D	0.91520	0.5234	10	0.87932	D	0	-18.3079	19.3299	0.94281	0.0:0.0:1.0:0.0	.	167;242;292;278	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	Y	278;221;162;242;292;278;167	ENSP00000233190:H278Y;ENSP00000397760:H221Y;ENSP00000400976:H162Y;ENSP00000409766:H242Y;ENSP00000392709:H292Y;ENSP00000399912:H278Y;ENSP00000409689:H167Y	ENSP00000233190:H278Y	H	-	1	0	NDUFS1	206717901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.269000	0.51592	2.563000	0.86464	0.655000	0.94253	CAT			0.343	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256391.4		NM_005006		A	207009656	G	A	207009656	3	1	63	1	0	0	0	0	1	0	0	0	10308	1319	46	2	1395	2	NDUFS1	2	207009656	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	5288236	207009656	36189717	15	4503											
SNED1	25992	broad.mit.edu	37	chr2	241979571	241979571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctctgcggtgtgtgtgtgCcaggccggatacaccggagc	5	8	17	11	3	1	0	0	0	1	0	1	2	1	2	3	5	4	1	3	5	1	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr2:241979571C>T	ENST00000310397.8	+	7	1125	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	SNED1_ENST00000342631.6_Silent_p.C375C|SNED1_ENST00000401884.1_Silent_p.C375C|SNED1_ENST00000405547.3_Silent_p.C375C|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	375	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGTGTGTGTGCCAGGCCGGAT	0.632																																					p.C375C													SNED1,NS,carcinoma,0,1	SNED1	76	1	0			c.C1125T												33	40	37					2																	241979571		2136	4239	6375	SO:0001819	synonymous_variant	25992	exon7			TGTGTGCCAGGCC	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1125C>T	2.37:g.241979571C>T			39	0.0512820513	2		57	0.09	5	NM_001080437	1	0	0	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.402|1.402	-0.577857|-0.577857	0.03854|0.03854	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401644	.|.	.|.	.|.	4.73|4.73	2.88|2.88	0.33553|0.33553	.|.	.|.	.|.	.|.	.|.	T|T	0.55752|0.55752	0.1940|0.1940	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50048|0.50048	-0.8873|-0.8873	4|4	.|.	.|.	.|.	.|.	7.2772|7.2772	0.26292|0.26292	0.0:0.7194:0.0:0.2806|0.0:0.7194:0.0:0.2806	.|.	.|.	.|.	.|.	V|S	33|72	.|.	.|.	A|P	+|+	2|1	0|0	SNED1|SNED1	241628244|241628244	0.895000|0.895000	0.30542|0.30542	0.757000|0.757000	0.31301|0.31301	0.005000|0.005000	0.04900|0.04900	0.488000|0.488000	0.22371|0.22371	0.923000|0.923000	0.37045|0.37045	0.591000|0.591000	0.81541|0.81541	GCC|CCA			0.632	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323935.2		XM_059482		T	241979571	C	T	241979571	2	4	63	1	0	0	0	0	0	0	0	1	14868	747	26	2		2	SNED1	2	241979571	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	34969915	241979571	1219802	16	4504											
TRIM71	131405	mdanderson.org	37	chr3	32915369	32915369	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcgtgagtgcacaatgggCcggcatgggggccacagctt	7	8	16	10	2	0	1	0	1	0	0	1	1	0	1	2	4	2	3	2	4	1	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr3:32915369C>T	ENST00000383763.5	+	2	975	c.912C>T	c.(910-912)ggC>ggT	p.G304G		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	304					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCACAATGGGCCGGCATGGGG	0.597																																					p.G304G													.	.			0			c.C912T												207	216	213					3																	32915369		2091	4219	6310	SO:0001819	synonymous_variant	131405	exon2			AATGGGCCGGCAT		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.912C>T	3.37:g.32915369C>T			57	0	0		46	0.07	3	NM_001039111	14	0	0		Silent	SNP	ENST00000383763.5	37	CCDS43060.1																																																																																					0.597	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341565.3		NM_001039111		T	32915369	C	T	32915369	2	4	63	1	0	0	0	0	0	0	0	1	16568	726	26	2		2	TRIM71	3	32915369	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10		32915369	165107061	17	4505											
DZIP3	9666	mdanderson.org	37	chr3	108373068	108373068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagtagacttataaaaGatgatgcaagtgatgttcaa	16	11	9	5	0	2	4	2	2	0	2	2	4	2	4	0	0	1	3	0	0	6	4			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr3:108373068G>T	ENST00000361582.3	+	19	2340	c.2110G>T	c.(2110-2112)Gat>Tat	p.D704Y	DZIP3_ENST00000463306.1_Missense_Mutation_p.D704Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	704					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						ACTTATAAAAGATGATGCAAG	0.398																																					p.D704Y													DZIP3,colon,carcinoma,0,1	DZIP3	0	1	0			c.G2110T												168	149	155					3																	108373068		2203	4300	6503	SO:0001583	missense	9666	exon19			ATAAAAGATGATG	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.2110G>T	3.37:g.108373068G>T	ENSP00000355028:p.Asp704Tyr		53	0	0		47	0.06	3	NM_014648	13	0	0	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	9.478	1.097410	0.20552	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.32753	1.44;1.44	4.81	2.82	0.32997	.	0.537871	0.17032	N	0.189643	T	0.19765	0.0475	L	0.36672	1.1	0.28206	N	0.927125	P;P	0.44090	0.826;0.826	B;B	0.38712	0.28;0.28	T	0.07597	-1.0764	10	0.37606	T	0.19	-7.8839	5.4181	0.16386	0.2656:0.0:0.7344:0.0	.	322;704	D3DN61;Q86Y13	.;DZIP3_HUMAN	Y	704	ENSP00000355028:D704Y;ENSP00000419981:D704Y	ENSP00000355028:D704Y	D	+	1	0	DZIP3	109855758	0.992000	0.36948	0.914000	0.36105	0.185000	0.23345	0.742000	0.26216	1.215000	0.43411	0.585000	0.79938	GAT			0.398	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353968.1		NM_014648		T	108373068	G	T	108373068	3	4	63	1	0	0	0	0	1	0	0	0	4870	942	33	3	2180	3	DZIP3	3	108373068	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	75457699	108373068	89649362	18	4506											
HSD17B4	3295	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr5	118788317	118788317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgggtggtactggtcaccgGcgcgggggcaggtgagcatg	5	6	21	9	4	1	1	1	1	0	0	1	1	1	1	1	7	2	3	1	7	1	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr5:118788317G>T	ENST00000256216.6	+	1	180	c.47G>T	c.(46-48)gGc>gTc	p.G16V	HSD17B4_ENST00000414835.2_5'Flank|HSD17B4_ENST00000504811.1_5'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.G16V|HSD17B4_ENST00000510025.1_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	16	(3R)-hydroxyacyl-CoA dehydrogenase.		G -> S (in DBPD). {ECO:0000269|PubMed:9482850}.		alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CTGGTCACCGGCGCGGGGGCA	0.677																																					p.G16V	Colon(35;490 801 34689 41394 43344)												.	.			0			c.G47T												73	67	69					5																	118788317		2202	4300	6502	SO:0001583	missense	3295	exon1			TCACCGGCGCGGG		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.47G>T	5.37:g.118788317G>T	ENSP00000256216:p.Gly16Val		68	0	0		80	0.06	5	NM_000414	40	0	0	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819987	0.71028	.	.	ENSG00000133835	ENST00000256216;ENST00000515320	D;D	0.99730	-6.56;-6.56	4.66	4.66	0.58398	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96680	0.9503	10	0.87932	D	0	.	13.2376	0.59979	0.0:0.0:1.0:0.0	.	16;16	E9PB82;P51659	.;DHB4_HUMAN	V	16	ENSP00000256216:G16V;ENSP00000424613:G16V	ENSP00000256216:G16V	G	+	2	0	HSD17B4	118816216	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	4.631000	0.61304	2.571000	0.86741	0.491000	0.48974	GGC			0.677	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250863.3		NM_000414		T	118788317	G	T	118788317	3	4	63	1	0	0	0	0	1	0	0	0	7401	1203	42	2	49	2	HSD17B4	5	118788317	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		118788317	62126943	19	4507											
CDKAL1	54901	mdanderson.org	37	chr6	20739812	20739812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcctcaagcccagcctcGccaggactaccttaagggac	9	7	9	16	2	1	0	1	0	0	0	3	2	2	2	5	2	3	1	5	2	3	3	rs149431105		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr6:20739812G>T	ENST00000378610.1	+	4	444	c.434G>T	c.(433-435)cGc>cTc	p.R145L	CDKAL1_ENST00000274695.4_Missense_Mutation_p.R145L|CDKAL1_ENST00000378624.4_Missense_Mutation_p.R75L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	145	MTTase N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00780}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.R145H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GCCCAGCCTCGCCAGGACTAC	0.428																																					p.R145L													CDKAL1,colon,carcinoma,0,1	CDKAL1	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.G434T							G	LEU/ARG	0,4406		0,0,2203	68	66	66		434	4.8	1	6	dbSNP_134	66	2,8598		0,2,4298	no	missense	CDKAL1	NM_017774.3	102	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	possibly-damaging	145/580	20739812	2,13004	2203	4300	6503	SO:0001583	missense	54901	exon6			AGCCTCGCCAGGA	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.434G>T	6.37:g.20739812G>T	ENSP00000367873:p.Arg145Leu		44	0	0		48	0.06	3	NM_017774	15	0	0	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	.	16.44	3.124427	0.56613	0.0	2.33E-4	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.46819	0.86;0.87;0.86	4.77	4.77	0.60923	Methylthiotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	L	0.48174	1.505	0.48395	D	0.99964	P;B	0.51653	0.947;0.448	P;B	0.52909	0.713;0.179	T	0.22906	-1.0203	10	0.32370	T	0.25	.	16.602	0.84818	0.0:0.0:1.0:0.0	.	75;145	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	L	145;75;145	ENSP00000274695:R145L;ENSP00000367889:R75L;ENSP00000367873:R145L	ENSP00000274695:R145L	R	+	2	0	CDKAL1	20847791	1.000000	0.71417	0.959000	0.39883	0.809000	0.45718	6.888000	0.75622	2.192000	0.70111	0.557000	0.71058	CGC	0		0.428	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039986.1		NM_017774		T	20739812	G	T	20739812	3	4	63	1	0	0	0	0	1	0	0	0	3154	1087	38	1	448	1	CDKAL1	6	20739812	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		20739812	150375255	20	4508											
RING1	6015	broad.mit.edu;mdanderson.org	37	chr6	33179304	33179304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccctgctcgtggagaaGggagaatactgccagacgag	11	5	13	12	2	0	3	0	0	0	3	1	6	0	3	3	2	3	1	3	2	3	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr6:33179304G>T	ENST00000374656.4	+	5	1033	c.825G>T	c.(823-825)aaG>aaT	p.K275N	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	275	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TCGTGGAGAAGGGAGAATACT	0.612																																					p.K275N													.	RING1	40		0			c.G825T												27	31	30					6																	33179304		1282	2591	3873	SO:0001583	missense	6015	exon5			GGAGAAGGGAGAA		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.825G>T	6.37:g.33179304G>T	ENSP00000363787:p.Lys275Asn		34	0	0		39	0.1	4	NM_002931	69	0	0	A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580936	0.28180	.	.	ENSG00000204227	ENST00000374656	D	0.84442	-1.85	4.03	0.894	0.19242	.	0.160615	0.41500	D	0.000864	T	0.56543	0.1992	L	0.27053	0.805	0.37101	D	0.899886	P	0.47962	0.903	B	0.41646	0.362	T	0.52660	-0.8546	10	0.22109	T	0.4	-11.9157	5.4062	0.16323	0.536:0.0:0.464:0.0	.	275	Q06587	RING1_HUMAN	N	275	ENSP00000363787:K275N	ENSP00000363787:K275N	K	+	3	2	RING1	33287282	0.793000	0.28825	1.000000	0.80357	0.995000	0.86356	-0.188000	0.09642	0.328000	0.23435	0.471000	0.43371	AAG			0.612	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076609.2				T	33179304	G	T	33179304	3	4	63	1	0	0	0	0	1	0	0	0	13397	991	35	3	839	3	RING1	6	33179304	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	12439492	33179304	137935763	21	4509											
LRRC1	55227	mdanderson.org	37	chr6	53660065	53660065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggcggcgatgttccactGcatccccctgtggcggtgca	4	8	16	13	3	0	0	0	0	0	0	2	1	2	0	3	5	2	3	3	5	0	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr6:53660065G>T	ENST00000370888.1	+	1	288	c.11G>T	c.(10-12)tGc>tTc	p.C4F	LRRC1_ENST00000370882.1_Missense_Mutation_p.C4F|RP13-476E20.1_ENST00000429053.1_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	4						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)		ATGTTCCACTGCATCCCCCTG	0.716																																					p.C4F													.	.			0			c.G11T												29	26	27					6																	53660065		2203	4300	6503	SO:0001583	missense	55227	exon1			TCCACTGCATCCC	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.11G>T	6.37:g.53660065G>T	ENSP00000359925:p.Cys4Phe		21	0	0		26	0.12	3	NM_018214	3	0	0	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912948	0.92178	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.46819	0.86;1.55	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.82323	2.585	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.72527	-0.4266	10	0.72032	D	0.01	.	16.1151	0.81302	0.0:0.0:1.0:0.0	.	4	Q9BTT6	LRRC1_HUMAN	F	4	ENSP00000359925:C4F;ENSP00000359919:C4F	ENSP00000359919:C4F	C	+	2	0	LRRC1	53768024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.505000	0.90515	2.111000	0.64477	0.563000	0.77884	TGC			0.716	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040970.2		NM_025168		T	53660065	G	T	53660065	3	4	63	1	0	0	0	0	1	0	0	0	8982	1319	46	2	13	2	LRRC1	6	53660065	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	20480761	53660065	117455002	22	4510											
C6orf221	154288	mdanderson.org	37	chr6	74073486	74073486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagcagtctctccaggctgCcaacaagtcggggacccagc	9	5	11	16	1	1	0	0	0	1	0	4	1	2	1	4	3	4	2	4	3	2	0			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr6:74073486C>T	ENST00000370367.3	+	3	610	c.557C>T	c.(556-558)gCc>gTc	p.A186V		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	186							RNA binding (GO:0003723)	p.A186V(1)									CTCCAGGCTGCCAACAAGTCG	0.652																																					p.A186V													C6orf221,NS,carcinoma,0,1	C6orf221	0	1	1	Substitution - Missense(1)	endometrium(1)	c.C557T												33	34	34					6																	74073486		2203	4300	6503	SO:0001583	missense	154288	exon3			AGGCTGCCAACAA	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.557C>T	6.37:g.74073486C>T	ENSP00000359392:p.Ala186Val		33	0	0		31	0.1	3	NM_001017361	605	0	0	B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	6.507	0.461787	0.12342	.	.	ENSG00000203908	ENST00000370367	T	0.28255	1.62	2.14	-4.29	0.03721	.	.	.	.	.	T	0.04272	0.0118	N	0.25647	0.755	0.09310	N	1	B	0.27625	0.183	B	0.26614	0.071	T	0.36625	-0.9740	9	0.11485	T	0.65	.	5.2271	0.15401	0.1641:0.2023:0.0:0.6336	.	186	Q587J8	ECAT1_HUMAN	V	186	ENSP00000359392:A186V	ENSP00000359392:A186V	A	+	2	0	C6orf221	74130207	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.656000	0.01980	-1.748000	0.01332	-0.229000	0.12294	GCC			0.652	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041202.3		NM_001017361		T	74073486	C	T	74073486	3	4	63	1	0	0	0	0	1	0	0	0	2357	739	26	2	567	2	C6orf221	6	74073486	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	20413421	74073486	97041581	23	4511											
ARID1B	57492	broad.mit.edu;mdanderson.org	37	chr6	157100005	157100005	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggaggaggaggaggcagcgg	5	0	27	9	8	0	0	0	0	0	0	0	4	0	4	0	13	1	1	0	13	0	0	rs587779748|rs184815562		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr6:157100005C>A	ENST00000350026.5	+	1	943	c.942C>A	c.(940-942)ggC>ggA	p.G314G	ARID1B_ENST00000275248.4_Silent_p.G256G|MIR4466_ENST00000606121.1_RNA|RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000367148.1_Silent_p.G314G|ARID1B_ENST00000346085.5_Silent_p.G314G|RP11-230C9.2_ENST00000603191.1_lincRNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	314	Gly-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)		gcggcggcggcggaggaggag	0.756																																					p.G314G													.	ARID1B	320		0			c.C942A												1	1	1					6																	157100005		538	1345	1883	SO:0001819	synonymous_variant	57492	exon1			CGGCGGCGGAGGA	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.942C>A	6.37:g.157100005C>A			26	0	0		32	0.13	4	NM_017519	0		0	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																					0.756	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000372723.1		NM_020732		A	157100005	C	A	157100005	2	1	63	1	0	0	0	0	0	0	0	1	914	755	27	1		1	ARID1B	6	157100005	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	83026519	157100005	14015062	24	4512											
RAC1	5879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	6426908	6426908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctggagaatatatccCtactgtgtaagtatcttaaa	13	15	6	7	0	1	1	0	0	1	1	3	2	3	1	2	1	1	2	2	1	8	7			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr7:6426908C>G	ENST00000348035.4	+	2	314	c.101C>G	c.(100-102)cCt>cGt	p.P34R	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P34R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	34					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAATATATCCCTACTGTGTAA	0.363																																					p.P34R													.	.			0			c.C101G												103	102	103					7																	6426908		2203	4298	6501	SO:0001583	missense	5879	exon2			ATATCCCTACTGT	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.101C>G	7.37:g.6426908C>G	ENSP00000258737:p.Pro34Arg		105	0	0		108	0.16	17	NM_006908	63	0.44	28	O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921361	0.92249	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.73789	-0.78;-0.78	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95425	0.8511	10	0.87932	D	0	.	20.2312	0.98350	0.0:1.0:0.0:0.0	.	34;34	P63000;A4D2P0	RAC1_HUMAN;.	R	34	ENSP00000258737:P34R;ENSP00000348461:P34R	ENSP00000258737:P34R	P	+	2	0	RAC1	6393433	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.622000	0.83099	2.882000	0.98803	0.655000	0.94253	CCT			0.363	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000242868.2		NM_018890		G	6426908	C	G	6426908	3	3	63	1	0	0	0	0	1	0	0	0	12997	681	24	5	107	5	RAC1	7	6426908	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10		6426908	152711755	25	4513											
DYNC1I1	1780	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	95439756	95439756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgactctgatctggatcGcaaacgacgagagacagagg	13	5	14	9	4	2	3	0	1	2	2	3	9	2	5	0	3	1	1	0	3	1	0	rs377495263		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr7:95439756G>A	ENST00000324972.6	+	3	354	c.161G>A	c.(160-162)cGc>cAc	p.R54H	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R54H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R54H|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R54H|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R54H|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.R54H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R54H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	54	Interaction with DCTN1. {ECO:0000250}.				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)			GATCTGGATCGCAAACGACGA	0.433																																					p.R54H													.	DYNC1I1	111		0			c.G161A							G	HIS/ARG,HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	84	84	84		161,161,161	4.8	1	7		84	0,8600		0,0,4300	no	missense,missense,missense	DYNC1I1	NM_001135556.1,NM_001135557.1,NM_004411.4	29,29,29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	54/629,54/609,54/646	95439756	1,13003	2202	4300	6502	SO:0001583	missense	1780	exon3			TGGATCGCAAACG	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.161G>A	7.37:g.95439756G>A	ENSP00000320130:p.Arg54His		85	0	0		94	0.05	5	NM_004411	0		0	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973205	0.92919	2.27E-4	0.0	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T;T	0.74315	-0.62;2.48;-0.83;-0.62;-0.63;2.48;-0.62	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.78407	0.4278	L	0.52573	1.65	0.45046	D	0.998065	D;D;D;D;D	0.67145	0.99;0.996;0.994;0.994;0.994	P;P;P;P;P	0.52710	0.512;0.707;0.707;0.629;0.707	T	0.79538	-0.1762	10	0.49607	T	0.09	-13.001	18.3447	0.90317	0.0:0.0:1.0:0.0	.	54;54;54;54;54	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	H	54	ENSP00000392337:R54H;ENSP00000320130:R54H;ENSP00000438377:R54H;ENSP00000398118:R54H;ENSP00000352348:R54H;ENSP00000428273:R54H;ENSP00000412444:R54H	ENSP00000320130:R54H	R	+	2	0	DYNC1I1	95277692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.548000	0.82154	2.629000	0.89072	0.655000	0.94253	CGC			0.433	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333432.1		NM_004411		A	95439756	G	A	95439756	3	1	63	1	0	0	0	0	1	0	0	0	4847	1087	38	1	167	1	DYNC1I1	7	95439756	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	89012848	95439756	63698907	26	4514											
POTEA	340441	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	43152474	43152474	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgttaatgttgctacaaCatggcactgatccaaatctt	11	13	8	9	1	1	1	0	1	1	0	2	1	2	1	1	1	4	4	1	1	4	4			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr8:43152474C>G	ENST00000522175.2	+	0	462							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTTGCTACAACATGGCACTGA	0.368																																					p.H154D													.	.			0			c.C460G												105	103	103					8																	43152474		2202	4298	6500			340441	exon3			CTACAACATGGCA	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152474C>G			165	0	0		176	0.23	40	NM_001005365	0		0	A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37																																																																																						0.368	POTEA-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000383492.1		NM_001002920		G	43152474	C	G	43152474	1	3	63	0	1	0	0	0	0	0	0	0	12278	478	17	5		5	POTEA	8	43152474	RNA	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10		43152474	103211548	27	4515											
RIMS2	9699	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	104831755	104831755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcaatttgagacattgcGccaggtctgcaattctgttt	10	14	9	8	1	2	1	0	1	2	1	2	2	2	1	1	1	3	3	1	1	3	4	rs377178152		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr8:104831755G>A	ENST00000507740.1	+	1	256	c.20G>A	c.(19-21)cGc>cAc	p.R7H	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Missense_Mutation_p.R7H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					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)			GAGACATTGCGCCAGGTCTGC	0.353										HNSCC(12;0.0054)																											p.R7H													RIMS2_ENST00000507740,NS,carcinoma,0,2	RIMS2_ENST00000507740	0	2	0			c.G20A							G	,HIS/ARG	1,3637		0,1,1818	119	116	117		,20	5.7	1	8		117	0,8168		0,0,4084	no	intron,missense	RIMS2	NM_001100117.2,NM_014677.4	,29	0,1,5902	AA,AG,GG		0.0,0.0275,0.0085	,	,7/1164	104831755	1,11805	1819	4084	5903	SO:0001583	missense	9699	exon1			CATTGCGCCAGGT	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		ENST00000507740.1:c.20G>A	8.37:g.104831755G>A	ENSP00000423559:p.Arg7His		57	0	0		84	0.08	7	NM_014677	0		0	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000507740.1	37	CCDS43761.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152792	0.78001	2.75E-4	0.0	ENSG00000176406	ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T	0.22134	1.97;2.03;2.04;1.98	5.71	5.71	0.89125	.	.	.	.	.	T	0.30230	0.0758	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	T	0.41910	-0.9482	9	0.87932	D	0	.	19.8516	0.96743	0.0:0.0:1.0:0.0	.	7;7	Q9UQ26-1;Q9UQ26-3	.;.	H	7	ENSP00000425205:R7H;ENSP00000262231:R7H;ENSP00000423559:R7H;ENSP00000386228:R7H	ENSP00000262231:R7H	R	+	2	0	RIMS2	104900931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	2.685000	0.91497	0.585000	0.79938	CGC			0.353	RIMS2-005	NOVEL	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000367215.1		NM_001100117		A	104831755	G	A	104831755	3	1	63	1	0	0	0	0	1	0	0	0	13391	1087	38	1	732	1	RIMS2	8	104831755	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	61679281	104831755	41532267	28	4516											
NOV	4856	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	120435213	120435213	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctgctgcactccccacaaTaccaaaaccatccaggcaga	13	5	6	17	1	0	1	0	0	0	1	2	1	2	1	5	1	4	4	5	1	4	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr8:120435213T>G	ENST00000259526.3	+	5	1142	c.915T>G	c.(913-915)aaT>aaG	p.N305K	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			CTCCCCACAATACCAAAACCA	0.552																																					p.N305K													.	.			0			c.T915G												113	110	111					8																	120435213		2203	4300	6503	SO:0001583	missense	4856	exon5			CCACAATACCAAA	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.915T>G	8.37:g.120435213T>G	ENSP00000259526:p.Asn305Lys		132	0	0		215	0.16	34	NM_002514	2	0	0		Missense_Mutation	SNP	ENST00000259526.3	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	T	6.737	0.504750	0.12822	.	.	ENSG00000136999	ENST00000259526	T	0.16597	2.33	5.85	1.46	0.22682	Cystine knot (1);Cystine knot, C-terminal (3);	0.228561	0.51477	D	0.000085	T	0.07999	0.0200	N	0.11673	0.155	0.39742	D	0.971769	B	0.30146	0.27	B	0.34931	0.192	T	0.23190	-1.0195	10	0.02654	T	1	-25.5504	11.462	0.50217	0.0:0.6471:0.0:0.3529	.	305	P48745	NOV_HUMAN	K	305	ENSP00000259526:N305K	ENSP00000259526:N305K	N	+	3	2	NOV	120504394	0.885000	0.30320	1.000000	0.80357	0.870000	0.49936	0.118000	0.15605	0.361000	0.24292	-0.248000	0.11899	AAT			0.552	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381301.1		NM_002514		G	120435213	T	G	120435213	3	3	63	1	0	0	0	0	1	0	0	0	10570	1403	49	4	933	4	NOV	8	120435213	Missense_Mutation	SNP	T	TCGA-2G-AAL7-01A-11D-A42Y-10	15603458	120435213	25928809	29	4517											
AKNA	80709	mdanderson.org	37	chr9	117124782	117124782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggtactcctcctctaggGccgcgtgggcagccttcagc	5	9	12	15	2	3	0	2	0	1	0	5	0	5	0	4	3	3	2	4	3	2	3			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr9:117124782G>T	ENST00000307564.4	-	8	1981	c.1820C>A	c.(1819-1821)gCc>gAc	p.A607D	AKNA_ENST00000374088.3_Missense_Mutation_p.A607D|AKNA_ENST00000374075.5_Missense_Mutation_p.A526D|AKNA_ENST00000223791.3_Missense_Mutation_p.A67D|AKNA_ENST00000312033.3_Missense_Mutation_p.A607D	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	607					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						CTCCTCTAGGGCCGCGTGGGC	0.637																																					p.A607D													.	.			0			c.C1820A												26	29	28					9																	117124782		2203	4300	6503	SO:0001583	missense	80709	exon8			TCTAGGGCCGCGT	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.1820C>A	9.37:g.117124782G>T	ENSP00000303769:p.Ala607Asp		42	0	0		38	0.08	3	NM_030767	12	0	0	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	g	18.83	3.706368	0.68615	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	4.94	4.02	0.46733	.	0.126904	0.36167	N	0.002760	T	0.52273	0.1724	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	T	0.53982	-0.8361	10	0.72032	D	0.01	-13.8451	11.0534	0.47903	0.0:0.1872:0.8128:0.0	.	607;526	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	D	607;448;607;67;526;607	ENSP00000303769:A607D;ENSP00000363201:A607D;ENSP00000223791:A67D;ENSP00000363188:A526D;ENSP00000309222:A607D	ENSP00000223791:A67D	A	-	2	0	AKNA	116164603	1.000000	0.71417	0.986000	0.45419	0.726000	0.41606	3.384000	0.52478	1.264000	0.44198	0.550000	0.68814	GCC			0.637	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053767.2		NM_030767		T	117124782	G	T	117124782	3	4	63	1	0	0	0	0	1	0	0	0	463	1203	42	2	2559	2	AKNA	9	117124782	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		117124782	24088649	30	4518											
ANKRD2	26287	mdanderson.org	37	chr10	99337614	99337614	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgctggtgctggaggatGagaagcaccacggggctcag	9	7	16	9	1	1	1	1	1	0	1	1	4	1	3	1	5	3	4	1	5	1	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr10:99337614G>T	ENST00000307518.5	+	2	493	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ANKRD2_ENST00000455090.1_Nonsense_Mutation_p.E49*|ANKRD2_ENST00000298808.5_Nonsense_Mutation_p.E76*|ANKRD2_ENST00000370655.1_Nonsense_Mutation_p.E49*			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	76	May mediate interaction with PML, p53/TP53 and YBX1.				muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCTGGAGGATGAGAAGCACCA	0.612																																					p.E76X													ANKRD2,NS,carcinoma,-1,1	ANKRD2	-1	1	0			c.G226T												52	40	44					10																	99337614		2199	4290	6489	SO:0001587	stop_gained	26287	exon2			GAGGATGAGAAGC	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.226G>T	10.37:g.99337614G>T	ENSP00000306163:p.Glu76*		38	0	0		34	0.09	3	NM_020349	1	0	0	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Nonsense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	G	38	6.857282	0.97889	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	.	.	.	4.65	4.65	0.58169	.	0.082483	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-39.2181	15.479	0.75508	0.0:0.0:1.0:0.0	.	.	.	.	X	76;76;49;49	.	ENSP00000298808:E76X	E	+	1	0	ANKRD2	99327604	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.145000	0.64839	2.406000	0.81754	0.561000	0.74099	GAG			0.612	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding						T	99337614	G	T	99337614	4	4	63	1	0	0	0	0	0	1	0	0	647	1291	45	3	232	3	ANKRD2	10	99337614	Nonsense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		99337614	36197133	31	4519											
MRVI1	10335	mdanderson.org	37	chr11	10597927	10597927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgagctccaccaggaGtccctctgggctgccgagca	7	7	12	15	1	1	1	0	1	1	0	4	3	4	2	5	2	3	3	5	2	0	0			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr11:10597927G>T	ENST00000436272.1	-	20	2688	c.2610C>A	c.(2608-2610)gaC>gaA	p.D870E	MRVI1_ENST00000547195.1_Missense_Mutation_p.D806E|MRVI1_ENST00000534266.2_Missense_Mutation_p.D582E|MRVI1_ENST00000545852.1_Missense_Mutation_p.D582E|MRVI1_ENST00000558540.1_Missense_Mutation_p.D582E|MRVI1_ENST00000423302.2_Missense_Mutation_p.D897E|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000424001.1_Missense_Mutation_p.D582E|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000527509.2_Missense_Mutation_p.D806E|MRVI1_ENST00000531107.1_Missense_Mutation_p.D889E|MRVI1_ENST00000421747.1_Missense_Mutation_p.D888E|MRVI1_ENST00000552103.1_Missense_Mutation_p.D806E|MRVI1_ENST00000541483.1_Missense_Mutation_p.D691E			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	870					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCACCAGGAGTCCCTCTGGG	0.567																																					p.D897E													.	.			0			c.C2691A												68	70	70					11																	10597927		1992	4159	6151	SO:0001583	missense	10335	exon21			CCAGGAGTCCCTC	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2610C>A	11.37:g.10597927G>T	ENSP00000412229:p.Asp870Glu		49	0	0		41	0.07	3	NM_130385	2	0	0	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.044368	0.75732	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	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	5.82	2.91	0.33838	.	0.190361	0.37053	N	0.002277	T	0.16599	0.0399	L	0.44542	1.39	0.25454	N	0.987972	D;P;D;D	0.57257	0.979;0.906;0.967;0.959	P;P;P;P	0.50405	0.64;0.629;0.629;0.496	T	0.07908	-1.0748	10	0.30854	T	0.27	-13.9624	3.5603	0.07880	0.3255:0.1883:0.4862:0.0	.	691;870;889;888	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	E	888;871;870;806;806;582;582;897;691;889;806	ENSP00000414598:D888E;ENSP00000412229:D870E;ENSP00000448278:D806E;ENSP00000446764:D806E;ENSP00000441971:D582E;ENSP00000401205:D582E;ENSP00000412130:D897E;ENSP00000437784:D691E;ENSP00000432436:D889E;ENSP00000432067:D806E	ENSP00000307885:D871E	D	-	3	2	MRVI1	10554503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.987000	0.40687	0.785000	0.33685	0.655000	0.94253	GAC			0.567	MRVI1-203	KNOWN	basic	protein_coding	protein_coding				NM_001098579		T	10597927	G	T	10597927	3	4	63	1	0	0	0	0	1	0	0	0	9869	1020	36	3	51	3	MRVI1	11	10597927	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		10597927	124408589	32	4520											
SOX6	55553	mdanderson.org	37	chr11	16068174	16068174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgctctcgcatcttccgCgcctcctgaatggctttcat	5	14	7	15	3	4	1	1	1	3	0	7	1	6	1	3	1	1	3	3	1	1	2	rs373068695		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr11:16068174C>T	ENST00000352083.6	-	12	1586	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	SOX6_ENST00000528429.1_Silent_p.A503A|SOX6_ENST00000396356.3_Silent_p.A503A|SOX6_ENST00000316399.6_Silent_p.A503A|SOX6_ENST00000528252.1_Silent_p.A476A|SOX6_ENST00000527619.1_Silent_p.A479A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	503					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|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)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCATCTTCCGCGCCTCCTGAA	0.493																																					p.A516A													SOX6_ENST00000527619,NS,lymphoid_neoplasm,-1,2	SOX6_ENST00000527619	-1	2	0			c.G1548A							C	,,,	0,4400		0,0,2200	116	103	108		1428,1548,1437,1509	-1.9	1	11		108	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SOX6	NM_001145811.1,NM_001145819.1,NM_017508.2,NM_033326.3	,,,	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	,,,	476/802,516/842,479/805,503/809	16068174	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	55553	exon12			CTTCCGCGCCTCC	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1509G>A	11.37:g.16068174C>T			52	0	0		45	0.07	3	NM_001145819	0		0	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37																																																																																						0.493	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000386811.1		NM_033326		T	16068174	C	T	16068174	2	4	63	1	0	0	0	0	0	0	0	1	14978	755	27	1		1	SOX6	11	16068174	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	5470247	16068174	118938342	33	4521											
ZFP91	80829	mdanderson.org	37	chr11	58377393	58377393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctagccggggctggcgtaGtagtaggacatctgtttctc	7	11	13	10	2	2	0	0	0	2	0	3	1	2	1	2	4	1	5	2	4	4	5			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr11:58377393G>T	ENST00000316059.6	+	3	632	c.461G>T	c.(460-462)aGt>aTt	p.S154I	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.S154I	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	154					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGCTGGCGTAGTAGTAGGACA	0.483																																					p.S154I													.	.			0			c.G461T												132	124	126					11																	58377393		2201	4295	6496	SO:0001583	missense	80829	exon3			GGCGTAGTAGTAG	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.461G>T	11.37:g.58377393G>T	ENSP00000339030:p.Ser154Ile		73	0	0		67	0.06	4	NM_001197051	3	0	0	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483122	0.84747	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.13196	2.61	5.29	5.29	0.74685	.	2.659030	0.01072	N	0.004829	T	0.20861	0.0502	N	0.24115	0.695	0.44117	D	0.996895	D;P	0.54207	0.965;0.94	P;B	0.48089	0.566;0.363	T	0.12811	-1.0533	10	0.62326	D	0.03	-12.1476	15.9669	0.79979	0.0:0.0:1.0:0.0	.	154;154	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	I	154	ENSP00000339030:S154I	ENSP00000374569:S154I	S	+	2	0	ZFP91	58133969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.981000	0.70524	2.767000	0.95098	0.655000	0.94253	AGT			0.483	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268674.1		NM_053023		T	58377393	G	T	58377393	3	4	63	1	0	0	0	0	1	0	0	0	17678	1029	36	3	471	3	ZFP91	11	58377393	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	42309219	58377393	76629123	34	4522											
CEP57	9702	mdanderson.org	37	chr11	95546250	95546250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaagggagaattcaaaGaatgaggaatcaaagcacaa	22	4	10	5	0	2	4	2	1	0	3	2	6	2	5	0	2	1	1	0	2	8	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr11:95546250G>T	ENST00000325542.5	+	3	595	c.357G>T	c.(355-357)aaG>aaT	p.K119N	CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000537677.1_Missense_Mutation_p.K92N|CEP57_ENST00000325486.5_Missense_Mutation_p.K119N|CEP57_ENST00000541150.1_Missense_Mutation_p.K110N|CEP57_ENST00000538658.1_Missense_Mutation_p.K119N	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	119	centrosome localization domain (CLD). {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGAATTCAAAGAATGAGGAAT	0.308									Mosaic Variegated Aneuploidy Syndrome																												p.K119N													.	.			0			c.G357T												45	46	46					11																	95546250		2201	4298	6499	SO:0001583	missense	9702	exon3	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	TTCAAAGAATGAG	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.357G>T	11.37:g.95546250G>T	ENSP00000317902:p.Lys119Asn		73	0	0		41	0.07	3	NM_001243777	18	0	0	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276080	0.59649	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	T;T;T;T;D;T;T	0.82803	0.96;0.96;0.96;-1.15;-1.65;0.96;0.96	5.98	2.95	0.34219	.	0.137540	0.51477	D	0.000097	D	0.83755	0.5323	L	0.40543	1.245	0.33372	D	0.573756	D;P;D;D	0.58268	0.977;0.692;0.982;0.977	P;P;P;P	0.59825	0.787;0.549;0.864;0.787	D	0.86926	0.2070	10	0.87932	D	0	-2.3723	10.2469	0.43345	0.288:0.0:0.712:0.0	.	110;119;119;119	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	N	92;119;119;110;92;119;110	ENSP00000441392:K92N;ENSP00000317902:K119N;ENSP00000317487:K119N;ENSP00000438065:K110N;ENSP00000445821:K92N;ENSP00000445706:K119N;ENSP00000443436:K110N	ENSP00000317487:K119N	K	+	3	2	CEP57	95185898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.486000	0.35530	0.756000	0.33013	0.591000	0.81541	AAG			0.308	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395983.1		NM_014679		T	95546250	G	T	95546250	3	4	63	1	0	0	0	0	1	0	0	0	3258	933	33	3	367	3	CEP57	11	95546250	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	37168857	95546250	39460266	35	4523											
HMBS	3145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	118958997	118958997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagatgagagtgattcgCgtgggtacccgcaagagcca	12	6	13	10	3	0	4	0	2	0	3	1	5	0	4	3	1	2	2	3	1	3	2	rs531691068		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr11:118958997C>T	ENST00000278715.3	+	2	217	c.66C>T	c.(64-66)cgC>cgT	p.R22R	HMBS_ENST00000537841.1_Silent_p.R5R|HMBS_ENST00000543090.1_Intron|HMBS_ENST00000392841.1_Silent_p.R5R|HMBS_ENST00000542729.1_Silent_p.R5R|HMBS_ENST00000442944.2_Silent_p.R5R|HMBS_ENST00000544387.1_Silent_p.R22R	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	22			R -> C (in AIP). {ECO:0000269|PubMed:10453740, ECO:0000269|PubMed:9463797}.		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GAGTGATTCGCGTGGGTACCC	0.527													C|||	1	0.000199681	8e-04	0	5008	,	,		19372	0		0	False		,,,				2504	0				p.R22R													HMBS,NS,carcinoma,+2,1	HMBS	2	1	0			c.C66T	GRCh37	CS962736	HMBS	S								98	106	103					11																	118958997		2200	4295	6495	SO:0001819	synonymous_variant	3145	exon2			GATTCGCGTGGGT	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"uroporphyrinogen I synthase", "porphobilinogen deaminase", "porphyria, acute; Chester type"	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.66C>T	11.37:g.118958997C>T			68	0	0		63	0.21	13	NM_000190	41	0.44	18	A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Silent	SNP	ENST00000278715.3	37	CCDS8409.1																																																																																					0.527	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399188.1		NM_000190		T	118958997	C	T	118958997	2	4	63	1	0	0	0	0	0	0	0	1	7234	755	27	1		1	HMBS	11	118958997	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	23412747	118958997	16047519	36	4524											
USP5	8078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6965261	6965261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcattttgccagattacCtggagattgcccgggatgga	8	13	12	8	1	1	2	1	0	0	2	1	5	1	4	3	3	3	0	3	3	1	5			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr12:6965261C>T	ENST00000229268.8	+	4	437	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	USP5_ENST00000389231.5_Silent_p.L129L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	129					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						GCCAGATTACCTGGAGATTGC	0.507																																					p.L129L													.	.			0			c.C385T												162	165	164					12																	6965261		2203	4300	6503	SO:0001819	synonymous_variant	8078	exon4			GATTACCTGGAGA	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.385C>T	12.37:g.6965261C>T			100	0	0		263	0.14	38	NM_003481	115	0.16	18	D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	CCDS41743.1																																																																																					0.507	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402982.1				T	6965261	C	T	6965261	2	4	63	1	0	0	0	0	0	0	0	1	17105	680	24	3		3	USP5	12	6965261	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10		6965261	126886634	37	4525											
KRT6A	3853	broad.mit.edu	37	chr12	52883755	52883755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacgtggtcgatctcagatCtcagcctctggatcatgcgg	7	11	12	11	3	4	2	3	1	3	1	7	4	4	3	1	3	2	0	1	3	0	0			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr12:52883755C>G	ENST00000330722.6	-	6	1243	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	392	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GATCTCAGATCTCAGCCTCTG	0.532																																					p.R392T													.	KRT6A	89		0			c.G1175C												135	108	117					12																	52883755		2203	4300	6503	SO:0001583	missense	3853	exon6			TCAGATCTCAGCC	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1175G>C	12.37:g.52883755C>G	ENSP00000369317:p.Arg392Thr		145	0	0		220	0.03	7	NM_005554	0		0	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.943559	0.73672	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.88201	-2.35	5.3	5.3	0.74995	Filament (1);	0.000000	0.64402	D	0.000007	D	0.91523	0.7323	L	0.50919	1.6	0.31008	N	0.719581	D	0.76494	0.999	D	0.76575	0.988	D	0.88326	0.2965	10	0.27785	T	0.31	.	12.6686	0.56855	0.0:0.924:0.0:0.0759	.	392	P02538	K2C6A_HUMAN	T	392;348	ENSP00000369317:R392T	ENSP00000369317:R392T	R	-	2	0	KRT6A	51170022	0.000000	0.05858	0.998000	0.56505	0.982000	0.71751	0.546000	0.23284	2.659000	0.90383	0.561000	0.74099	AGA			0.532	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404978.2		NM_005554		G	52883755	C	G	52883755	3	3	63	1	0	0	0	0	1	0	0	0	8495	913	32	5	535	5	KRT6A	12	52883755	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	45918494	52883755	80968140	38	4526											
KRT6A	3853	broad.mit.edu	37	chr12	52886666	52886666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatgccggctccaccacCgaaaccaaatccactcccgg	11	4	7	19	3	0	0	0	0	0	0	3	1	3	0	8	2	2	1	8	2	3	0	rs548869463	byFrequency	TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr12:52886666C>T	ENST00000330722.6	-	1	375	c.307G>A	c.(307-309)Ggt>Agt	p.G103S		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	103	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCACCACCGAAACCAAAT	0.652													C|||	2	0.000399361	0	0	5008	,	,		14422	0.002		0	False		,,,				2504	0				p.G103S													.	KRT6A	89		0			c.G307A												19	23	21					12																	52886666		2188	4245	6433	SO:0001583	missense	3853	exon1			CACCACCGAAACC	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.307G>A	12.37:g.52886666C>T	ENSP00000369317:p.Gly103Ser		250	0	0		352	0.12	41	NM_005554	0		0	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295569	0.23564	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.93247	-3.19	4.3	3.4	0.38934	.	0.127872	0.36409	N	0.002611	D	0.85522	0.5716	L	0.43923	1.385	0.37165	D	0.902769	P	0.45957	0.869	B	0.27380	0.079	D	0.84536	0.0636	10	0.21014	T	0.42	.	11.3144	0.49383	0.0:0.912:0.0:0.088	.	103	P02538	K2C6A_HUMAN	S	103;59	ENSP00000369317:G103S	ENSP00000369317:G103S	G	-	1	0	KRT6A	51172933	0.663000	0.27448	0.023000	0.16930	0.046000	0.14306	3.172000	0.50832	1.116000	0.41820	0.549000	0.68633	GGT			0.652	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404978.2		NM_005554		T	52886666	C	T	52886666	3	4	63	1	0	0	0	0	1	0	0	0	8495	652	23	1	1423	1	KRT6A	12	52886666	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	2911	52886666	80965229	39	4527											
NCOR2	9612	mdanderson.org	37	chr12	124887102	124887102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgttgttgCtgctgctgtcagaccccggg	2	13	14	12	1	1	1	1	0	0	1	1	1	1	1	2	1	7	9	2	1	0	2	rs7488825		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr12:124887102C>T	ENST00000405201.1	-	14	1488	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	NCOR2_ENST00000397355.1_Silent_p.Q496Q|NCOR2_ENST00000429285.2_Silent_p.Q495Q|NCOR2_ENST00000356219.3_Silent_p.Q496Q|NCOR2_ENST00000404621.1_Silent_p.Q495Q|NCOR2_ENST00000404121.2_Silent_p.Q66Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	496	Poly-Gln.				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)		gctgttgttgctgctgctgTC	0.627																																					p.Q496Q													.	.			0			c.G1488A												9	10	9					12																	124887102		2049	4171	6220	SO:0001819	synonymous_variant	9612	exon16			TTGTTGCTGCTGC	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.1488G>A	12.37:g.124887102C>T			42	0	0		39	0.08	3	NM_006312	7	0	0	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																					0.627	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312		T	124887102	C	T	124887102	2	4	63	1	0	0	0	0	0	0	0	1	10253	796	28	2		2	NCOR2	12	124887102	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	72000436	124887102	8964793	40	4528											
SLITRK1	114798	broad.mit.edu	37	chr13	84455509	84455509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcagacttgtgaagcccTttttttcacagtctacgtgt	7	15	9	10	1	2	2	1	1	1	1	2	2	2	2	1	0	3	2	1	0	2	5			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	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																																					p.K45R													.	SLITRK1	196		1	Deletion - Frameshift(1)	large_intestine(1)	c.A134G												90	89	89					13																	84455509		2203	4300	6503	SO:0001583	missense	114798	exon1			AAGCCCTTTTTTT	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		95	0	0		105	0.04	4	NM_052910	0		0	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	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		C	84455509	T	C	84455509	3	2	63	1	0	0	0	0	1	0	0	0	14765	1609	56	4	1960	4	SLITRK1	13	84455509	Missense_Mutation	SNP	T	TCGA-2G-AAL7-01A-11D-A42Y-10		84455509	30714369	41	4529											
MEGF11	84465	broad.mit.edu	37	chr15	66262977	66262977	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaggacaatcctggctGcagttctggccaaatgtccc	9	9	11	12	0	1	0	0	0	1	0	3	1	3	1	3	4	1	4	3	4	3	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr15:66262977G>T	ENST00000409699.2	-	8	985	c.813C>A	c.(811-813)tgC>tgA	p.C271*	MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.C196*|MEGF11_ENST00000360698.4_Nonsense_Mutation_p.C271*|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.C196*|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.C271*			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	271	EGF-like 5. {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						AATCCTGGCTGCAGTTCTGGC	0.557																																					p.C271X													.	MEGF11	70		0			c.C813A												120	84	96					15																	66262977		2201	4299	6500	SO:0001587	stop_gained	84465	exon8			CTGGCTGCAGTTC	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.813C>A	15.37:g.66262977G>T	ENSP00000386908:p.Cys271*		124	0	0		115	0.03	4	NM_032445	0		0	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Nonsense_Mutation	SNP	ENST00000409699.2	37	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	39	7.458728	0.98296	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	.	.	.	4.73	1.71	0.24356	.	0.000000	0.44285	U	0.000470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8261	0.35057	0.2563:0.0:0.7437:0.0	.	.	.	.	X	271;196;271;196;271	.	ENSP00000288745:C196X	C	-	3	2	MEGF11	64050031	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.089000	0.50183	0.575000	0.29434	0.462000	0.41574	TGC			0.557	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329307.2		NM_032445		T	66262977	G	T	66262977	4	4	63	1	0	0	0	0	0	1	0	0	9477	1311	46	2	2385	2	MEGF11	15	66262977	Nonsense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		66262977	36268415	42	4530											
CLK3	1198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	74914482	74914482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagccaacagagcagtaagCgcagcagccggagtgtggaa	14	3	15	9	2	0	1	0	0	0	1	0	4	0	3	2	2	6	4	2	2	4	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr15:74914482C>T	ENST00000395066.3	+	4	1296	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	CLK3_ENST00000352989.5_Missense_Mutation_p.R131C|CLK3_ENST00000348245.3_Intron|CLK3_ENST00000345005.4_Missense_Mutation_p.R131C	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	279					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GAGCAGTAAGCGCAGCAGCCG	0.567																																					p.R279C	Ovarian(133;694 1754 28950 29027 31859)												.	.			0			c.C835T												145	120	128					15																	74914482		2197	4296	6493	SO:0001583	missense	1198	exon4			AGTAAGCGCAGCA	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.835C>T	15.37:g.74914482C>T	ENSP00000378505:p.Arg279Cys		95	0	0		84	0.21	18	NM_001130028	38	0.16	6	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764297	0.49574	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T;T	0.60797	0.65;0.16;0.75	5.46	5.46	0.80206	.	0.210963	0.34959	N	0.003542	T	0.72914	0.3520	L	0.58510	1.815	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;P	0.65987	0.94;0.447;0.858	T	0.73222	-0.4051	10	0.52906	T	0.07	.	19.3154	0.94211	0.0:1.0:0.0:0.0	.	279;58;131	P49761;B3KUU7;G5E959	CLK3_HUMAN;.;.	C	131;131;279;131	ENSP00000344112:R131C;ENSP00000378505:R131C;ENSP00000323106:R131C	ENSP00000344112:R131C	R	+	1	0	CLK3	72701535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.489000	0.45285	2.559000	0.86315	0.655000	0.94253	CGC			0.567	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000390442.3				T	74914482	C	T	74914482	3	4	63	1	0	0	0	0	1	0	0	0	3540	768	27	1	849	1	CLK3	15	74914482	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	8651505	74914482	27616910	43	4531											
PTX4	390667	mdanderson.org	37	chr16	1537645	1537645	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggacgaggccctccagGcgtgccagtgagtcctgcag	6	7	15	13	2	0	1	0	1	0	0	2	3	2	2	4	3	2	1	4	3	0	0			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr16:1537645G>T	ENST00000447419.2	-	2	493	c.468C>A	c.(466-468)cgC>cgA	p.R156R	PTX4_ENST00000293922.1_Silent_p.R151R|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	156						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCCCTCCAGGCGTGCCAGTG	0.741																																					p.R151R													.	.			0			c.C453A												18	23	22					16																	1537645		2190	4271	6461	SO:0001819	synonymous_variant	390667	exon2			CTCCAGGCGTGCC		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.468C>A	16.37:g.1537645G>T			41	0	0		40	0.08	3	NM_001013658	0		0		Silent	SNP	ENST00000447419.2	37																																																																																						0.741	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000432526.1		NM_001013658		T	1537645	G	T	1537645	2	4	63	1	0	0	0	0	0	0	0	1	12846	1190	42	2		2	PTX4	16	1537645	Silent	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		1537645	88817108	44	4532											
COQ7	10229	mdanderson.org	37	chr16	19089428	19089428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctatgccgtcctgaagaGcattatccaggccggatgca	10	8	11	12	2	0	2	0	1	0	1	2	3	2	3	5	2	4	2	5	2	3	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr16:19089428G>A	ENST00000321998.5	+	6	668	c.602G>A	c.(601-603)aGc>aAc	p.S201N	COQ7_ENST00000568985.1_Missense_Mutation_p.S201N|COQ7_ENST00000544894.2_Missense_Mutation_p.S163N|COQ7_ENST00000569127.1_Missense_Mutation_p.S178N	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	201	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GTCCTGAAGAGCATTATCCAG	0.403																																					p.S201N													.	.			0			c.G602A												104	96	99					16																	19089428		2197	4300	6497	SO:0001583	missense	10229	exon6			TGAAGAGCATTAT	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"coenzyme Q, 7 (rat, yeast) homolog"			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.602G>A	16.37:g.19089428G>A	ENSP00000322316:p.Ser201Asn		48	0	0		43	0.07	3	NM_016138	53	0	0	B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	G	8.299	0.819386	0.16607	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.42131	0.98;0.98	5.43	-4.8	0.03190	.	0.774373	0.13294	N	0.398817	T	0.11452	0.0279	N	0.01352	-0.895	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.36065	-0.9763	10	0.11485	T	0.65	-13.1482	8.4213	0.32703	0.5204:0.2872:0.1924:0.0	.	178;201	Q49A71;Q99807	.;COQ7_HUMAN	N	201;163	ENSP00000322316:S201N;ENSP00000442923:S163N	ENSP00000322316:S201N	S	+	2	0	COQ7	18996929	0.003000	0.15002	0.003000	0.11579	0.112000	0.19704	-0.132000	0.10467	-0.941000	0.03700	0.655000	0.94253	AGC			0.403	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254275.3		NM_016138		A	19089428	G	A	19089428	3	1	63	1	0	0	0	0	1	0	0	0	3752	971	34	2	624	2	COQ7	16	19089428	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	17551783	19089428	71265325	45	4533											
ACSM2A	123876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	20471599	20471599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgatgtgttggatcactggGctgacatggagaaggtaatg	10	11	16	4	0	1	3	1	2	0	1	1	5	1	4	0	4	0	3	0	4	2	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr16:20471599G>A	ENST00000573854.1	+	2	277	c.163G>A	c.(163-165)Gct>Act	p.A55T	ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000536134.1_De_novo_Start_InFrame|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A55T|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A55T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A55T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A55T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	55					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						GGATCACTGGGCTGACATGGA	0.428																																					p.A55T													.	.			0			c.G163A												69	63	65					16																	20471599		2203	4300	6503	SO:0001583	missense	123876	exon3			CACTGGGCTGACA	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.163G>A	16.37:g.20471599G>A	ENSP00000459451:p.Ala55Thr		132	0	0		96	0.29	28	NM_001010845	0		0	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644952	0.29246	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.58358	0.34;0.34;0.34	3.95	0.513	0.17000	.	0.000000	0.43919	D	0.000514	T	0.44030	0.1274	L	0.49350	1.555	0.28216	N	0.926732	P	0.49862	0.929	P	0.47528	0.549	T	0.34054	-0.9844	10	0.39692	T	0.17	-13.5212	3.1973	0.06637	0.2269:0.0:0.4751:0.2979	.	55	Q08AH3	ACS2A_HUMAN	T	55	ENSP00000219054:A55T;ENSP00000394904:A55T;ENSP00000379411:A55T	ENSP00000219054:A55T	A	+	1	0	ACSM2A	20379100	0.996000	0.38824	0.599000	0.28851	0.972000	0.66771	1.411000	0.34702	0.271000	0.22005	0.454000	0.30748	GCT			0.428	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436764.1		NM_001010845		A	20471599	G	A	20471599	3	1	63	1	0	0	0	0	1	0	0	0	183	1203	42	2	165	2	ACSM2A	16	20471599	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	1382171	20471599	69883154	46	4534											
CLEC18B	497190	broad.mit.edu	37	chr16	74444923	74444923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatctgggccagcacccCgcctttcctctgtaacccca	6	10	7	18	1	2	1	0	1	2	0	3	1	3	1	7	1	2	2	7	1	1	3			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr16:74444923C>T	ENST00000339953.5	-	9	1115	c.994G>A	c.(994-996)Ggg>Agg	p.G332R		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	332	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.G332R(6)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCAGCACCCCGCCTTTCCTC	0.612																																					p.G332R													CLEC18B,NS,carcinoma,0,6	CLEC18B	45	6	6	Substitution - Missense(6)	kidney(6)	c.G994A												61	70	67					16																	74444923		2189	4246	6435	SO:0001583	missense	497190	exon9			GCACCCCGCCTTT	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.994G>A	16.37:g.74444923C>T	ENSP00000341051:p.Gly332Arg		301	0.0033222591	1		247	0.02	4	NM_001011880	3	0	0	B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	N	16.90	3.249709	0.59212	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.25749	1.78	3.14	3.14	0.36123	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.131736	0.49916	D	0.000130	T	0.59770	0.2218	H	0.95884	3.735	0.45354	D	0.998344	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.69716	-0.5070	10	0.87932	D	0	.	9.6467	0.39872	0.0:1.0:0.0:0.0	.	332;332	C9JSV1;Q6UXF7	.;CL18B_HUMAN	R	332	ENSP00000341051:G332R	ENSP00000341051:G332R	G	-	1	0	CLEC18B	73002424	0.998000	0.40836	0.928000	0.36995	0.695000	0.40330	6.316000	0.72857	1.602000	0.50124	0.425000	0.28330	GGG			0.612	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434697.1		NM_001011880		T	74444923	C	T	74444923	3	4	63	1	0	0	0	0	1	0	0	0	3505	652	23	1	393	1	CLEC18B	16	74444923	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	53973324	74444923	15909830	47	4535											
CTU2	9780	mdanderson.org	37	chr16	88780056	88780056	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcccctgcctcccgcaggGcttctcggatgagcggcacg	5	6	13	17	4	1	1	0	1	1	0	3	2	2	2	4	3	3	3	4	3	0	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr16:88780056G>T	ENST00000301015.9	-	0	8072				CTU2_ENST00000312060.5_Splice_Site_p.G292V|CTU2_ENST00000453996.2_Splice_Site_p.G292V|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000567949.1_Splice_Site_p.G363V|CTU2_ENST00000378384.3_Splice_Site_p.G205V	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CTCCCGCAGGGCTTCTCGGAT	0.662																																					p.G292V													.	.			0			c.G875T												54	55	54					16																	88780056		2191	4291	6482	SO:0001628	intergenic_variant	348180	exon9			CGCAGGGCTTCTC	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780056G>T			42	0	0		37	0.08	3	NM_001012759	83	0	0	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035700	0.75617	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.42131	0.98;0.98;0.98	4.66	3.66	0.41972	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	T	0.63310	-0.6666	10	0.62326	D	0.03	.	13.562	0.61795	0.0:0.158:0.8419:0.0	.	205;292;292	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	V	205;292;292	ENSP00000367635:G205V;ENSP00000308617:G292V;ENSP00000388320:G292V	ENSP00000308617:G292V	G	+	2	0	CTU2	87307557	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.813000	0.75231	1.027000	0.39758	0.655000	0.94253	GGC			0.662	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000345699.4		NM_014745		T	88780056	G	T	88780056	1	4	63	0	1	0	0	0	0	0	0	0	4050	1217	42	2		2	CTU2	16	88780056	IGR	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	14335133	88780056	1574697	48	4536											
TRIM37	4591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	57126703	57126703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggctaagatggttatctgGtggtgacaaatctcttgact	9	13	13	6	0	2	3	0	2	2	1	3	3	2	3	0	5	0	2	0	5	3	3			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr17:57126703G>C	ENST00000262294.7	-	15	1625	c.1366C>G	c.(1366-1368)Cca>Gca	p.P456A	TRIM37_ENST00000393066.3_Missense_Mutation_p.P456A|TRIM37_ENST00000376149.3_Missense_Mutation_p.P334A|TRIM37_ENST00000393065.2_Missense_Mutation_p.P422A	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	456					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGGTTATCTGGTGGTGACAAA	0.448									Mulibrey Nanism																												p.P456A													.	.			0			c.C1366G												123	106	112					17																	57126703		2203	4300	6503	SO:0001583	missense	4591	exon15	Familial Cancer Database	Perheentupa syndrome	TATCTGGTGGTGA	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1366C>G	17.37:g.57126703G>C	ENSP00000262294:p.Pro456Ala		115	0	0		116	0.2	23	NM_015294	13	0.54	7	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051217	0.55218	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.69435	1.33;1.33;-0.4;0.93	5.37	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	L	0.32530	0.975	0.54753	D	0.999986	B;B;B	0.33694	0.421;0.421;0.018	B;B;B	0.37601	0.183;0.254;0.013	T	0.63019	-0.6730	10	0.72032	D	0.01	-21.162	13.7855	0.63108	0.0738:0.0:0.9262:0.0	.	422;334;456	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	A	456;456;334;422	ENSP00000376785:P456A;ENSP00000262294:P456A;ENSP00000365319:P334A;ENSP00000376784:P422A	ENSP00000262294:P456A	P	-	1	0	TRIM37	54481485	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.864000	0.87037	1.265000	0.44215	0.561000	0.74099	CCA			0.448	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445930.1		NM_015294		C	57126703	G	C	57126703	3	2	63	1	0	0	0	0	1	0	0	0	16535	1261	44	5	1576	5	TRIM37	17	57126703	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		57126703	24068507	49	4537											
ABCA7	10347	mdanderson.org	37	chr19	1047263	1047263	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctcagcgccttcttctcCcgcgccaacctggctgcggc	3	9	10	19	4	3	0	1	0	2	0	4	0	3	0	4	2	4	2	4	2	1	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:1047263C>A	ENST00000263094.6	+	15	2184	c.1953C>A	c.(1951-1953)tcC>tcA	p.S651S	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Silent_p.S651S|ABCA7_ENST00000435683.2_Silent_p.S513S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	651					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCTTCTCCCGCGCCAACC	0.687																																					p.S651S													.	.			0			c.C1953A												32	29	30					19																	1047263		2199	4299	6498	SO:0001819	synonymous_variant	10347	exon15			CTTCTCCCGCGCC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1953C>A	19.37:g.1047263C>A			41	0	0		38	0.08	3	NM_019112	3	0	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																					0.687	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000394993.1		NM_019112		A	1047263	C	A	1047263	2	1	63	1	0	0	0	0	0	0	0	1	37	610	22	3		3	ABCA7	19	1047263	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10		1047263	58081720	50	4538											
C19orf57	79173	mdanderson.org	37	chr19	13996848	13996848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccagcaagggcccggCttgttccccgaaggaaagag	9	4	14	14	3	0	1	0	0	0	1	1	3	1	2	5	4	1	3	5	4	3	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:13996848C>T	ENST00000586783.1	-	6	1688	c.1689G>A	c.(1687-1689)aaG>aaA	p.K563K	C19orf57_ENST00000454313.1_Silent_p.K563K|C19orf57_ENST00000346736.2_Silent_p.K563K|C19orf57_ENST00000591586.1_Silent_p.K138K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	563					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)			AAGGGCCCGGCTTGTTCCCCG	0.632																																					p.K563K													.	.			0			c.G1689A												37	39	38					19																	13996848		2203	4300	6503	SO:0001819	synonymous_variant	79173	exon7			GCCCGGCTTGTTC	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.1689G>A	19.37:g.13996848C>T			44	0.0227272727	1		35	0.09	3	NM_024323	3	0	0	Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37																																																																																						0.632	C19orf57-003	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000457947.1		NM_024323		T	13996848	C	T	13996848	2	4	63	1	0	0	0	0	0	0	0	1	1941	796	28	2		2	C19orf57	19	13996848	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	12949585	13996848	45132135	51	4539											
NDUFA13	51079	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19638552	19638552	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctggaggaggaggccatCatcatgaaggacgtgcccga	12	5	14	10	2	2	1	2	1	0	0	2	6	2	5	3	5	2	0	3	5	2	0			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:19638552C>A	ENST00000507754.4	+	4	772	c.288C>A	c.(286-288)atC>atA	p.I96I	YJEFN3_ENST00000436027.5_5'Flank|CTC-260F20.3_ENST00000555938.1_Silent_p.I96I|YJEFN3_ENST00000514277.4_5'Flank|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000608404.1_Silent_p.I96I|NDUFA13_ENST00000512771.3_Silent_p.I96I|NDUFA13_ENST00000428459.2_Silent_p.I96I|NDUFA13_ENST00000252576.5_Silent_p.I179I|NDUFA13_ENST00000503283.1_Silent_p.I96I			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	96					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						AGGAGGCCATCATCATGAAGG	0.687																																					p.I96I													.	.			0			c.C288A												34	29	31					19																	19638552		2144	4186	6330	SO:0001819	synonymous_variant	51079	exon4			GGCCATCATCATG	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.288C>A	19.37:g.19638552C>A			53	0	0		67	0.34	23	NM_015965	1380	0.39	532	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	CCDS12404.2																																																																																					0.687	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367916.6		NM_015965		A	19638552	C	A	19638552	2	1	63	1	0	0	0	0	0	0	0	1	10280	816	29	3		3	NDUFA13	19	19638552	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	5641704	19638552	39490431	52	4540											
ATP1A3	478	mdanderson.org	37	chr19	42482471	42482471	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctcgggcaggtaataatgGcagaaacctagtggcaggga	12	7	14	8	1	0	1	0	0	0	1	2	2	1	2	2	5	1	4	2	5	4	3			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:42482471G>T	ENST00000302102.5	-	13	1788	c.1638C>A	c.(1636-1638)tgC>tgA	p.C546*	ATP1A3_ENST00000545399.1_Nonsense_Mutation_p.C559*|ATP1A3_ENST00000543770.1_Nonsense_Mutation_p.C557*|ATP1A3_ENST00000602133.1_Nonsense_Mutation_p.C516*	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	546					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|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)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGTAATAATGGCAGAAACCTA	0.587																																					p.C559X													.	.			0			c.C1677A												51	49	50					19																	42482471		2203	4299	6502	SO:0001587	stop_gained	478	exon13			ATAATGGCAGAAA		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1638C>A	19.37:g.42482471G>T	ENSP00000302397:p.Cys546*		26	0	0		50	0.06	3	NM_001256214	16	0	0	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Nonsense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	38	6.909973	0.97928	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	.	.	.	4.34	3.3	0.37823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2164	0.43170	0.0985:0.0:0.9015:0.0	.	.	.	.	X	546;546;559;516;290;557	.	ENSP00000302397:C546X	C	-	3	2	ATP1A3	47174311	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	2.746000	0.47467	1.180000	0.42898	0.561000	0.74099	TGC			0.587	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000268107.1		NM_152296		T	42482471	G	T	42482471	4	4	63	1	0	0	0	0	0	1	0	0	1130	1195	42	2	1447	2	ATP1A3	19	42482471	Nonsense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	22843919	42482471	16646512	53	4541											
ZNF526	116115	mdanderson.org	37	chr19	42729994	42729994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtggggtttgtggcaaggGcttcaagaagctgatccacg	8	10	15	8	1	1	2	1	1	0	1	2	2	2	2	1	4	1	4	1	4	3	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:42729994G>T	ENST00000301215.3	+	3	1664	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	480					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)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGTGGCAAGGGCTTCAAGAAG	0.627																																					p.G480V													.	.			0			c.G1439T												76	79	78					19																	42729994		2203	4300	6503	SO:0001583	missense	116115	exon3			GCAAGGGCTTCAA	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1439G>T	19.37:g.42729994G>T	ENSP00000301215:p.Gly480Val		54	0	0		32	0.09	3	NM_133444	10	0	0	B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914060	0.33815	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.07216	3.21	4.97	0.119	0.14685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.392825	0.24547	N	0.037594	T	0.04634	0.0126	N	0.13327	0.33	0.21499	N	0.999663	B	0.24823	0.112	B	0.19148	0.024	T	0.35226	-0.9797	10	0.62326	D	0.03	-13.6997	9.0722	0.36500	0.0733:0.0:0.2862:0.6405	.	480	Q8TF50	ZN526_HUMAN	V	336;480	ENSP00000301215:G480V	ENSP00000301215:G480V	G	+	2	0	ZNF526	47421834	0.000000	0.05858	0.576000	0.28549	0.998000	0.95712	-0.506000	0.06359	0.065000	0.16485	0.650000	0.86243	GGC			0.627	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463681.2		XM_057401		T	42729994	G	T	42729994	3	4	63	1	0	0	0	0	1	0	0	0	17990	1203	42	2	1441	2	ZNF526	19	42729994	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	247523	42729994	16398989	54	4542											
BCL3	602	bcgsc.ca	37	chr19	45262002	45262002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgacatcctgagggggAaggccacccggcctgcttcc	7	7	12	15	2	1	1	1	1	0	0	4	3	3	2	5	4	1	1	5	4	1	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:45262002A>G	ENST00000164227.5	+	8	1325	c.1081A>G	c.(1081-1083)Aag>Gag	p.K361E		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	361					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|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)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCTGAGGGGGAAGGCCACCCG	0.642			T	IGH@	CLL																																p.K361E				Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	.	BCL3	28		0			c.A1081G												42	38	40					19																	45262002		2198	4297	6495	SO:0001583	missense	602	exon8			AGGGGGAAGGCCA	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1081A>G	19.37:g.45262002A>G	ENSP00000164227:p.Lys361Glu		32	0	0		26	0.15	4	NM_005178	30	0	0		Missense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.501025|4.501025	0.85176|0.85176	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000444487|ENST00000164227	.|T	.|0.38401	.|1.14	4.15|4.15	4.15|4.15	0.48705|0.48705	.|.	.|1.386830	.|0.05316	.|N	.|0.525668	T|T	0.42899|0.42899	0.1223|0.1223	L|L	0.33245|0.33245	0.995|0.995	0.30305|0.30305	N|N	0.789045|0.789045	.|D	.|0.61697	.|0.99	.|P	.|0.51742	.|0.678	T|T	0.36792|0.36792	-0.9733|-0.9733	5|10	.|0.87932	.|D	.|0	-22.2159|-22.2159	11.1034|11.1034	0.48188|0.48188	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|361	.|P20749	.|BCL3_HUMAN	G|E	264|361	.|ENSP00000164227:K361E	.|ENSP00000164227:K361E	E|K	+|+	2|1	0|0	BCL3|BCL3	49953842|49953842	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.981000|0.981000	0.71138|0.71138	5.440000|5.440000	0.66563|0.66563	1.504000|1.504000	0.48704|0.48704	0.402000|0.402000	0.26972|0.26972	GAA|AAG			0.642	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322976.1		NM_005178		G	45262002	A	G	45262002	3	3	63	1	0	0	0	0	1	0	0	0	1375	247	9	4	1111	4	BCL3	19	45262002	Missense_Mutation	SNP	A	TCGA-2G-AAL7-01A-11D-A42Y-10	2532008	45262002	13866981	55	4543											
ZC3H4	23211	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	47570041	47570041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgtgtcagcagccggctCtgtggctttgccccccgcgt	3	9	12	17	4	2	0	1	0	1	0	2	0	2	0	5	2	3	3	5	2	0	1			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:47570041C>T	ENST00000253048.5	-	15	3521	c.3484G>A	c.(3484-3486)Gag>Aag	p.E1162K	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1162							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)		GCAGCCGGCTCTGTGGCTTTG	0.687																																					p.E1162K													.	ZC3H4	96		0			c.G3484A												11	15	14					19																	47570041		2027	4172	6199	SO:0001583	missense	23211	exon15			CCGGCTCTGTGGC	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.3484G>A	19.37:g.47570041C>T	ENSP00000253048:p.Glu1162Lys		26	0	0		22	0.18	4	NM_015168	12	0.5	6	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367646	0.24771	.	.	ENSG00000130749	ENST00000253048	T	0.19938	2.11	5.43	5.43	0.79202	.	0.277908	0.38548	N	0.001654	T	0.33789	0.0875	L	0.61218	1.895	0.33142	D	0.544494	D	0.58620	0.983	P	0.49301	0.606	T	0.45041	-0.9288	10	0.46703	T	0.11	.	18.0025	0.89201	0.0:1.0:0.0:0.0	.	1162	Q9UPT8	ZC3H4_HUMAN	K	1162	ENSP00000253048:E1162K	ENSP00000253048:E1162K	E	-	1	0	ZC3H4	52261881	0.001000	0.12720	0.512000	0.27736	0.028000	0.11728	0.794000	0.26958	2.541000	0.85698	0.563000	0.77884	GAG			0.687	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466667.1				T	47570041	C	T	47570041	3	4	63	1	0	0	0	0	1	0	0	0	17593	922	32	3	431	3	ZC3H4	19	47570041	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	2308039	47570041	11558942	56	4544											
LHB	3972	mdanderson.org	37	chr19	49519472	49519472	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacggggtccacaccacgCgggcagccagggagccggat	9	2	15	15	4	0	0	0	0	0	0	1	2	1	2	5	5	2	1	5	5	0	0	rs377599735		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:49519472C>A	ENST00000221421.2	-	3	278	c.279G>T	c.(277-279)ccG>ccT	p.P93P	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	93					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		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)		CCACACCACGCGGGCAGCCAG	0.682																																					p.P93P													LHB,colon,carcinoma,0,2	LHB	0	2	0			c.G279T												74	74	74					19																	49519472		2203	4300	6503	SO:0001819	synonymous_variant	3972	exon3			ACCACGCGGGCAG		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"Endogenous ligands"	6584	protein-coding gene	gene with protein product	"lutropin, beta chain", "interstitial cell stimulating hormone, beta chain", "luteinizing hormone beta subunit"	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.279G>T	19.37:g.49519472C>A			28	0	0		52	0.06	3	NM_000894	1	0	0	Q9UDI0	Silent	SNP	ENST00000221421.2	37	CCDS12748.1																																																																																					0.682	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466246.1		NM_000894		A	49519472	C	A	49519472	2	1	63	1	0	0	0	0	0	0	0	1	8776	755	27	1		1	LHB	19	49519472	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	1949431	49519472	9609511	57	4545											
SAPS1	22870	mdanderson.org	37	chr19	55742998	55742998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgactttgctgccttctgtgGcttcctgaggtgctgagggg	3	14	15	9	0	1	3	0	3	1	0	2	3	2	3	2	4	3	3	2	4	0	3			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:55742998G>T	ENST00000412770.2	-	20	2911	c.2345C>A	c.(2344-2346)gCc>gAc	p.A782D	PPP6R1_ENST00000587283.1_Missense_Mutation_p.A782D|AC010327.1_ENST00000581390.1_RNA|TMEM86B_ENST00000327042.4_5'Flank	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	782	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						GCCTTCTGTGGCTTCCTGAGG	0.667																																					p.A782D													.	.			0			c.C2345A												25	30	29					19																	55742998		1990	4158	6148	SO:0001583	missense	22870	exon20			TCTGTGGCTTCCT	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2345C>A	19.37:g.55742998G>T	ENSP00000414202:p.Ala782Asp		39	0	0		40	0.08	3	NM_014931	136	0	0	Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688461	0.48097	.	.	ENSG00000105063	ENST00000444538;ENST00000412770	T	0.46819	0.86	4.21	0.93	0.19454	.	0.462856	0.18683	N	0.134114	T	0.38852	0.1056	N	0.19112	0.55	0.20489	N	0.999894	P;D	0.61697	0.948;0.99	P;P	0.55455	0.601;0.776	T	0.16928	-1.0386	10	0.33141	T	0.24	-9.8221	5.9394	0.19184	0.3331:0.0:0.6669:0.0	.	782;144	Q9UPN7;Q96ID3	PP6R1_HUMAN;.	D	297;782	ENSP00000414202:A782D	ENSP00000414202:A782D	A	-	2	0	PPP6R1	60434810	0.000000	0.05858	0.438000	0.26821	0.813000	0.45954	-0.741000	0.04855	0.315000	0.23110	0.561000	0.74099	GCC			0.667	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452663.1		NM_014931		T	55742998	G	T	55742998	3	4	63	1	0	0	0	0	1	0	0	0	13859	1203	42	2	320	2	SAPS1	19	55742998	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	6223526	55742998	3385985	58	4546											
U2AF2	11338	mdanderson.org	37	chr19	56173984	56173984	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaattttgcctttttggaGgtgagctgggggagtgagtg	8	13	17	3	0	0	3	0	2	0	1	0	5	0	5	1	4	2	1	1	4	2	4			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:56173984G>T	ENST00000308924.4	+	6	643	c.603G>T	c.(601-603)gaG>gaT	p.E201D	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Splice_Site_p.E37D|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000450554.2_Splice_Site_p.E201D			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	201	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|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)		CCTTTTTGGAGGTGAGCTGGG	0.577																																					p.E201D													.	.			0			c.G603T												62	68	66					19																	56173984		2203	4300	6503	SO:0001630	splice_region_variant	11338	exon6			TTTGGAGGTGAGC	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.603+1G>T	19.37:g.56173984G>T			51	0.0196078431	1		51	0.06	3	NM_001012478	271	0	0	Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559725	0.86335	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.10192	2.9;2.9	3.97	3.97	0.46021	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.69463	2.115	0.80722	D	1	D;D	0.69078	0.997;0.971	D;P	0.91635	0.999;0.762	T	0.08953	-1.0697	10	0.72032	D	0.01	-36.4381	15.2061	0.73180	0.0:0.0:1.0:0.0	.	201;201	P26368;P26368-2	U2AF2_HUMAN;.	D	201	ENSP00000307863:E201D;ENSP00000388475:E201D	ENSP00000307863:E201D	E	+	3	2	U2AF2	60865796	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.012000	0.93624	1.935000	0.56089	0.460000	0.39030	GAG			0.577	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000453599.1		NM_007279	Missense_Mutation	T	56173984	G	T	56173984	5	4	63	1	0	0	0	0	0	0	1	0	16847	1014	35	3	625	3	U2AF2	19	56173984	Splice_Site	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	430986	56173984	2954999	59	4547											
CHMP2A	27243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	59063125	59063125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcagccacactaagcgagCccccagttgaggggaggtct	10	5	13	13	1	1	1	0	1	1	0	1	3	1	2	3	3	4	2	3	3	1	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr19:59063125C>A	ENST00000600118.1	-	5	985	c.560G>T	c.(559-561)gGc>gTc	p.G187V	CHMP2A_ENST00000601220.1_Missense_Mutation_p.G187V|CHMP2A_ENST00000312547.2_Missense_Mutation_p.G187V			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	187	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACTAAGCGAGCCCCCAGTTGA	0.607																																					p.G187V													.	.			0			c.G560T												51	57	55					19																	59063125		2203	4300	6503	SO:0001583	missense	27243	exon6			AGCGAGCCCCCAG	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.560G>T	19.37:g.59063125C>A	ENSP00000469240:p.Gly187Val		90	0	0		56	0.3	17	NM_198426	202	0.48	97	B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200869	0.58234	.	.	ENSG00000130724	ENST00000312547	T	0.77489	-1.1	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	N	0.14661	0.345	0.80722	D	1	B	0.20368	0.044	B	0.28305	0.088	T	0.58858	-0.7562	10	0.21540	T	0.41	.	15.6104	0.76713	0.0:1.0:0.0:0.0	.	187	O43633	CHM2A_HUMAN	V	187	ENSP00000310440:G187V	ENSP00000310440:G187V	G	-	2	0	CHMP2A	63754937	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	3.787000	0.55439	2.639000	0.89480	0.650000	0.86243	GGC			0.607	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467088.1		NM_014453		A	59063125	C	A	59063125	3	1	63	1	0	0	0	0	1	0	0	0	3356	739	26	2	112	2	CHMP2A	19	59063125	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	2889141	59063125	65858	60	4548											
XRN2	22803	mdanderson.org	37	chr20	21319686	21319686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattttatacttttaggacaGttttagaagacgacagaaag	15	13	9	4	1	0	3	0	0	0	3	0	6	0	4	0	1	1	1	0	1	6	7			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr20:21319686G>T	ENST00000377191.3	+	14	1333	c.1238G>T	c.(1237-1239)aGt>aTt	p.S413I	XRN2_ENST00000539513.1_Missense_Mutation_p.S359I|XRN2_ENST00000430571.2_Missense_Mutation_p.S337I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	413					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						TTTTAGGACAGTTTTAGAAGA	0.299																																					p.S413I													.	.			0			c.G1238T												96	107	103					20																	21319686		2203	4299	6502	SO:0001583	missense	22803	exon14			AGGACAGTTTTAG	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.1238G>T	20.37:g.21319686G>T	ENSP00000366396:p.Ser413Ile		50	0	0		50	0.08	4	NM_012255	99	0	0	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002165	0.35320	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.31510	1.49;1.49;1.49	4.7	3.74	0.42951	.	0.380565	0.33144	N	0.005221	T	0.22126	0.0533	L	0.48642	1.525	0.37423	D	0.913725	B	0.20261	0.043	B	0.20955	0.032	T	0.11397	-1.0589	10	0.20519	T	0.43	-19.0717	5.6839	0.17792	0.2662:0.0:0.7338:0.0	.	413	Q9H0D6	XRN2_HUMAN	I	413;337;359	ENSP00000366396:S413I;ENSP00000413548:S337I;ENSP00000441113:S359I	ENSP00000366396:S413I	S	+	2	0	XRN2	21267686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.895000	0.39778	2.335000	0.79485	0.655000	0.94253	AGT			0.299	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078273.2		NM_012255		T	21319686	G	T	21319686	3	4	63	1	0	0	0	0	1	0	0	0	17484	1029	36	3	1292	3	XRN2	20	21319686	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10		21319686	41705834	61	4549											
C20orf117	140710	mdanderson.org	37	chr20	35422006	35422006	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacactgaagaggctGgagagtccatcgttgatgtt	10	10	11	10	1	0	4	0	2	0	2	3	5	2	4	3	2	0	3	3	2	1	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr20:35422006G>T	ENST00000357779.3	-	14	4091	c.3765C>A	c.(3763-3765)tcC>tcA	p.S1255S	SOGA1_ENST00000456801.2_Silent_p.S1096S|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Silent_p.S1493S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1255					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGAAGAGGCTGGAGAGTCCAT	0.617																																					p.S1493S													.	.			0			c.C4479A												23	27	26					20																	35422006		692	1591	2283	SO:0001819	synonymous_variant	140710	exon14			GAGGCTGGAGAGT	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.3765C>A	20.37:g.35422006G>T			30	0	0		46	0.07	3	NM_080627	3	0	0	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																						0.617	SOGA1-201	KNOWN	basic	protein_coding	protein_coding				NM_199181		T	35422006	G	T	35422006	2	4	63	1	0	0	0	0	0	0	0	1	2085	1335	47	3		3	C20orf117	20	35422006	Silent	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	14102320	35422006	27603514	62	4550											
GATA5	140628	mdanderson.org	37	chr20	61050111	61050111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgctgccatcgaagggcccgGcagtccaggactgggccacg	7	4	15	15	4	0	0	0	0	0	0	2	2	1	1	4	4	1	2	4	4	1	0			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr20:61050111G>T	ENST00000252997.2	-	2	528	c.467C>A	c.(466-468)gCc>gAc	p.A156D	RP13-379O24.3_ENST00000606283.1_lincRNA	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	156					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)			GAAGGGCCCGGCAGTCCAGGA	0.736																																					p.A156D													.	.			0			c.C467A												5	6	6					20																	61050111		2003	4029	6032	SO:0001583	missense	140628	exon2			GGCCCGGCAGTCC	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.467C>A	20.37:g.61050111G>T	ENSP00000252997:p.Ala156Asp		15	0	0		14	0.21	3	NM_080473	3	0	0	D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	CCDS13499.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032975	0.54790	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.98585	-5.01	4.37	4.37	0.52481	GATA-type transcription activator, N-terminal (1);	0.637405	0.16734	N	0.201724	D	0.97779	0.9271	L	0.61036	1.89	0.18873	N	0.999987	D	0.53151	0.958	P	0.48982	0.597	D	0.94342	0.7571	10	0.66056	D	0.02	-6.4374	16.9368	0.86205	0.0:0.0:1.0:0.0	.	156	Q9BWX5	GATA5_HUMAN	D	156;176;156	ENSP00000252997:A156D	ENSP00000252997:A156D	A	-	2	0	GATA5	60483506	0.984000	0.35163	0.017000	0.16124	0.611000	0.37282	6.805000	0.75191	2.150000	0.67090	0.556000	0.70494	GCC			0.736	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080038.2		NM_080473		T	61050111	G	T	61050111	3	4	63	1	0	0	0	0	1	0	0	0	6271	1203	42	2	750	2	GATA5	20	61050111	Missense_Mutation	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	25628105	61050111	1975409	63	4551											
CCT8L2	150160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	17072477	17072477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcactcaggtaaatgatctCcatccaagacctagcttgaa	13	10	6	12	0	3	3	2	2	1	1	5	3	4	3	3	1	1	2	3	1	5	3			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chr22:17072477C>G	ENST00000359963.3	-	1	1223	c.964G>C	c.(964-966)Gag>Cag	p.E322Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	322					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAAATGATCTCCATCCAAGAC	0.562																																					p.E322Q													.	.			0			c.G964C												180	160	167					22																	17072477		2203	4300	6503	SO:0001583	missense	150160	exon1			TGATCTCCATCCA	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.964G>C	22.37:g.17072477C>G	ENSP00000353048:p.Glu322Gln		117	0	0		130	0.24	31	NM_014406	0		0	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.555	-0.847737	0.02651	.	.	ENSG00000198445	ENST00000359963	T	0.79845	-1.31	1.98	-0.882	0.10604	.	0.672540	0.12208	N	0.489567	T	0.80696	0.4672	M	0.69358	2.11	0.09310	N	1	P	0.44309	0.832	P	0.49477	0.612	T	0.71490	-0.4577	10	0.87932	D	0	-13.736	7.1363	0.25531	0.0:0.4391:0.5609:0.0	.	322	Q96SF2	TCPQM_HUMAN	Q	322	ENSP00000353048:E322Q	ENSP00000353048:E322Q	E	-	1	0	CCT8L2	15452477	0.003000	0.15002	0.018000	0.16275	0.001000	0.01503	0.482000	0.22276	0.160000	0.19432	-0.822000	0.03109	GAG			0.562	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000280580.1				G	17072477	C	G	17072477	3	3	63	1	0	0	0	0	1	0	0	0	2963	864	30	5	713	5	CCT8L2	22	17072477	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10		17072477	34232089	64	4552											
MAGEB1	4112	broad.mit.edu	37	chrX	30269096	30269096	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcttggagctcgtctttggCcttgatttgaaggaagacaa	9	12	12	8	2	1	3	0	2	1	1	2	5	1	5	1	3	1	2	1	3	3	4	rs200431416		TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chrX:30269096C>T	ENST00000378981.3	+	4	807	c.486C>T	c.(484-486)ggC>ggT	p.G162G	MAGEB1_ENST00000397548.2_Silent_p.G162G|MAGEB1_ENST00000397550.1_Silent_p.G162G	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	162	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCGTCTTTGGCCTTGATTTGA	0.473																																					p.G162G													.	MAGEB1	76		0			c.C486T												69	52	58					X																	30269096		2202	4300	6502	SO:0001819	synonymous_variant	4112	exon3			CTTTGGCCTTGAT		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.486C>T	X.37:g.30269096C>T			121	0	0		193	0.03	5	NM_177415	4	0	0	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	CCDS14222.1																																																																																					0.473	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056160.1		NM_002363		T	30269096	C	T	30269096	2	4	63	1	0	0	0	0	0	0	0	1	9188	726	26	2		2	MAGEB1	23	30269096	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10		30269096	125001464	65	4553											
TEX13A	56157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	104463847	104463847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggccccccatcagaccaCaggctagtatcaaaggcctc	10	6	10	15	0	2	1	2	0	0	1	3	1	2	1	5	4	0	2	5	4	3	2			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chrX:104463847C>T	ENST00000413579.1	-	5	1140	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.C344Y|TEX13A_ENST00000372575.1_Missense_Mutation_p.C344Y			Q9BXU3	TX13A_HUMAN	testis expressed 13A	343							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CATCAGACCACAGGCTAGTAT	0.552																																					p.L343L													.	.			0			c.G1029A												106	99	101					X																	104463847		2101	4214	6315	SO:0001819	synonymous_variant	56157	exon5			AGACCACAGGCTA	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1029G>A	X.37:g.104463847C>T			87	0	0		116	0.3	35	NM_031274	0		0	B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	8.682	0.905316	0.17760	.	.	ENSG00000133149	ENST00000372578;ENST00000372575	.	.	.	2.86	-3.36	0.04913	.	.	.	.	.	T	0.25680	0.0625	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34527	-0.9825	5	0.87932	D	0	.	0.1635	0.00105	0.3521:0.2269:0.1643:0.2566	.	.	.	.	Y	344	.	ENSP00000361656:C344Y	C	-	2	0	TEX13A	104350503	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-2.686000	0.00834	-1.077000	0.03121	0.436000	0.28706	TGT			0.552	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_031274		T	104463847	C	T	104463847	2	4	63	1	0	0	0	0	0	0	0	1	15799	478	17	3		3	TEX13A	23	104463847	Silent	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	74194751	104463847	50806713	66	4554											
AMMECR1	9949	broad.mit.edu;mdanderson.org	37	chrX	109561071	109561071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccccccgccgccgccgcCgcagccctgggggggagaga	5	2	16	18	5	0	1	0	0	0	1	1	4	1	2	8	3	1	1	8	3	0	0			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chrX:109561071C>A	ENST00000262844.5	-	1	396	c.229G>T	c.(229-231)Ggc>Tgc	p.G77C	AMMECR1_ENST00000496695.1_5'Flank|AMMECR1_ENST00000372059.2_Missense_Mutation_p.G77C|AMMECR1_ENST00000372057.1_5'UTR	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	77	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CCGCCGCCGCCGCAGCCCTGG	0.726																																					p.G77C													.	AMMECR1	16		0			c.G229T												5	5	5					X																	109561071		1882	3732	5614	SO:0001583	missense	9949	exon1			CGCCGCCGCAGCC	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.229G>T	X.37:g.109561071C>A	ENSP00000262844:p.Gly77Cys		34	0	0		62	0.05	3	NM_015365	3	0	0	Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.799024	0.50208	.	.	ENSG00000101935	ENST00000262844;ENST00000372059	.	.	.	4.29	3.42	0.39159	.	0.000000	0.49305	D	0.000153	T	0.48205	0.1487	L	0.29908	0.895	0.80722	D	1	P;P	0.49862	0.929;0.853	P;P	0.51777	0.679;0.599	T	0.32561	-0.9902	8	.	.	.	-0.7539	10.6389	0.45582	0.0:0.898:0.0:0.102	.	77;77	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	C	77	.	.	G	-	1	0	AMMECR1	109447727	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	2.031000	0.41117	0.744000	0.32741	0.271000	0.19318	GGC			0.726	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057907.1				A	109561071	C	A	109561071	3	1	63	1	0	0	0	0	1	0	0	0	578	652	23	1	796	1	AMMECR1	23	109561071	Missense_Mutation	SNP	C	TCGA-2G-AAL7-01A-11D-A42Y-10	5097224	109561071	45709489	67	4555											
KLHL13	90293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	117043475	117043475	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagaaaatttccaatgacGgcgatgccatgctggtacct	12	10	10	9	2	0	2	0	1	0	1	1	4	1	2	3	2	3	2	3	2	5	3			TCGA-2G-AAL7-01A-11D-A42Y-10	TCGA-2G-AAL7-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d1ddde10-c7a7-40e6-815d-f237235c2cbb	06a9061b-3846-4626-921d-89f61fe675b5	g.chrX:117043475G>A	ENST00000262820.3	-	5	2064	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	KLHL13_ENST00000540167.1_Silent_p.A369A|KLHL13_ENST00000371882.1_Silent_p.A334A|KLHL13_ENST00000539496.1_Silent_p.A388A|KLHL13_ENST00000371878.1_Silent_p.A334A|KLHL13_ENST00000371876.1_Silent_p.A334A|KLHL13_ENST00000541812.1_Silent_p.A369A|KLHL13_ENST00000469946.1_Silent_p.A334A|KLHL13_ENST00000545703.1_Silent_p.A343A	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	385					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						TTCCAATGACGGCGATGCCAT	0.453																																					p.A388A													.	.			0			c.C1164T												106	91	96					X																	117043475		2203	4300	6503	SO:0001819	synonymous_variant	90293	exon6			AATGACGGCGATG	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.1155C>T	X.37:g.117043475G>A			108	0	0		153	0.39	60	NM_001168299	0		0	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	CCDS14571.1																																																																																					0.453	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_033495		A	117043475	G	A	117043475	2	1	63	1	0	0	0	0	0	0	0	1	8384	1103	39	1		1	KLHL13	23	117043475	Silent	SNP	G	TCGA-2G-AAL7-01A-11D-A42Y-10	7482404	117043475	38227085	68	4556											
PLEKHN1	84069	mdanderson.org	37	chr1	909350	909350	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgctctccaagaagggAgccctgcagtccagagccgc	9	7	11	14	1	1	2	0	0	1	2	3	3	2	3	4	1	5	2	4	1	3	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:909350A>G	ENST00000379409.2	+	13	1758	c.1728A>G	c.(1726-1728)ggA>ggG	p.G576G	PLEKHN1_ENST00000379410.3_Silent_p.G524G|PLEKHN1_ENST00000379407.3_Silent_p.G489G			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	576										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)		CCAAGAAGGGAGCCCTGCAGT	0.697																																					p.G524G													.	.			0			c.A1572G												17	19	18					1																	909350		2188	4291	6479	SO:0001819	synonymous_variant	84069	exon14			GAAGGGAGCCCTG	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.1728A>G	1.37:g.909350A>G			36	0	0		20	0.1	2	NM_032129	4	0	0	Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37																																																																																						0.697	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000473256.1		NM_032129		G	909350	A	G	909350	2	3	64	1	0	0	0	0	0	0	0	1	12100	291	11	4		4	PLEKHN1	1	909350	Silent	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10		909350	248341271	1	4557											
ACAP3	116983	mdanderson.org	37	chr1	1231205	1231205	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagagctgtggggccgcAggcacttctgcaccctccag	6	6	16	13	1	1	1	0	0	1	1	2	2	2	1	3	5	2	4	3	5	0	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:1231205A>G	ENST00000354700.5	-	18	1818	c.1616T>C	c.(1615-1617)cTg>cCg	p.L539P	ACAP3_ENST00000353662.3_Missense_Mutation_p.L497P|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	539					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GTGGGGCCGCAGGCACTTCTG	0.662																																					p.L539P													.	.			0			c.T1616C												33	43	40					1																	1231205		2199	4296	6495	SO:0001583	missense	116983	exon18			GGCCGCAGGCACT	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1616T>C	1.37:g.1231205A>G	ENSP00000346733:p.Leu539Pro		20	0	0		18	0.17	3	NM_030649	28	0	0	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	CCDS19.2	.	.	.	.	.	.	.	.	.	.	G	4.642	0.119394	0.08881	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.27720	1.65;1.82	4.7	-7.57	0.01318	.	1.507990	0.04738	N	0.422355	T	0.11196	0.0273	N	0.08118	0	0.21933	N	0.999466	B;B	0.23249	0.082;0.002	B;B	0.21917	0.037;0.002	T	0.14952	-1.0454	10	0.28530	T	0.3	.	0.9982	0.01472	0.2589:0.1316:0.3117:0.2978	.	539;497	Q96P50;Q96P50-1	ACAP3_HUMAN;.	P	539;497	ENSP00000346733:L539P;ENSP00000321139:L497P	ENSP00000321139:L497P	L	-	2	0	ACAP3	1221068	0.000000	0.05858	0.070000	0.20053	0.010000	0.07245	-0.304000	0.08199	-1.527000	0.01758	-1.458000	0.01028	CTG			0.662	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006366.2		NM_030649		G	1231205	A	G	1231205	3	3	64	1	0	0	0	0	1	0	0	0	120	188	7	4	916	4	ACAP3	1	1231205	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	321855	1231205	248019416	2	4558											
MEGF6	1953	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr1	3440791	3440791	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctggcagccaccgttgtgGgttcggcattcgtccacatc	5	11	12	13	3	0	0	0	0	0	0	4	0	1	0	3	3	2	5	3	3	0	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:3440791G>T	ENST00000356575.4	-	5	727	c.501C>A	c.(499-501)acC>acA	p.T167T	MEGF6_ENST00000294599.4_Silent_p.T62T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	167	EGF-like 2; calcium-binding. {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)		CACCGTTGTGGGTTCGGCATT	0.652																																					p.T167T	Ovarian(73;978 3658)												.	.			0			c.C501A												55	68	64					1																	3440791		2057	4198	6255	SO:0001819	synonymous_variant	1953	exon5			GTTGTGGGTTCGG	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.501C>A	1.37:g.3440791G>T			129	0	0		100	0.05	5	NM_001409	1	0	0	Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	CCDS41237.1																																																																																					0.652	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354866.1		NM_001409		T	3440791	G	T	3440791	2	4	64	1	0	0	0	0	0	0	0	1	9478	1219	43	3		3	MEGF6	1	3440791	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	2209586	3440791	245809830	3	4559											
TFAP2E	339488	mdanderson.org	37	chr1	36054040	36054040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgctccgtgcccggccgGctttcactgctcagctcaac	4	11	9	17	3	4	0	3	0	1	0	5	0	5	0	3	2	5	4	3	2	1	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:36054040G>A	ENST00000373235.3	+	4	880	c.672G>A	c.(670-672)cgG>cgA	p.R224R		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGCCCGGCCGGCTTTCACTGC	0.647																																					p.R224R													.	.			0			c.G672A												122	105	111					1																	36054040		2203	4300	6503	SO:0001819	synonymous_variant	339488	exon4			CGGCCGGCTTTCA	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.672G>A	1.37:g.36054040G>A			50	0	0		41	0.07	3	NM_178548	0		0		Silent	SNP	ENST00000373235.3	37	CCDS393.2																																																																																					0.647	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012732.1		NM_178548		A	36054040	G	A	36054040	2	1	64	1	0	0	0	0	0	0	0	1	15814	1190	42	2		2	TFAP2E	1	36054040	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	32613249	36054040	213196581	4	4560											
OSCP1	127700	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	36888403	36888403	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcaggactcggtctccatAaagttcaaaagaaccttctt	12	13	6	10	1	4	1	2	0	2	1	6	2	4	2	2	2	1	1	2	2	5	5			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:36888403A>T	ENST00000356637.5	-	7	808	c.745T>A	c.(745-747)Tat>Aat	p.Y249N	OSCP1_ENST00000235532.5_Missense_Mutation_p.Y239N|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000433045.2_Missense_Mutation_p.Y194N|OSCP1_ENST00000315643.9_Missense_Mutation_p.Y249N			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	249					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CGGTCTCCATAAAGTTCAAAA	0.378																																					p.Y239N													.	.			0			c.T715A												136	124	128					1																	36888403		2203	4300	6503	SO:0001583	missense	127700	exon6			CTCCATAAAGTTC		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.745T>A	1.37:g.36888403A>T	ENSP00000349052:p.Tyr249Asn		120	0	0		106	0.2	21	NM_145047	27	0.22	6	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37		.	.	.	.	.	.	.	.	.	.	A	13.49	2.251367	0.39797	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643	T;T;T;T;T	0.29917	1.96;1.97;1.55;1.55;1.97	5.61	3.28	0.37604	.	0.318688	0.34906	N	0.003598	T	0.28034	0.0691	L	0.60455	1.87	0.38911	D	0.957534	B;B	0.18310	0.027;0.016	B;B	0.15052	0.012;0.005	T	0.07271	-1.0781	10	0.36615	T	0.2	.	9.3285	0.38008	0.8542:0.0:0.1458:0.0	.	239;249	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	N	239;249;194;209;249	ENSP00000235532:Y239N;ENSP00000349052:Y249N;ENSP00000390820:Y194N;ENSP00000396417:Y209N;ENSP00000314541:Y249N	ENSP00000235532:Y239N	Y	-	1	0	OSCP1	36660990	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	3.745000	0.55119	0.416000	0.25844	-0.290000	0.09829	TAT			0.378	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000389759.1		NM_145047		T	36888403	A	T	36888403	3	4	64	1	0	0	0	0	1	0	0	0	11303	362	13	5	444	5	OSCP1	1	36888403	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	834363	36888403	212362218	5	4561											
PLXNA2	5362	broad.mit.edu	37	chr1	208205034	208205034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttgatggccagggggAgagcgctgccccggtgcaca	7	7	16	11	2	0	2	0	1	0	1	0	3	0	2	3	4	4	3	3	4	1	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:208205034A>G	ENST00000367033.3	-	29	5883	c.5126T>C	c.(5125-5127)cTc>cCc	p.L1709P	PLXNA2_ENST00000483048.1_5'Flank	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1709					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)		GGCCAGGGGGAGAGCGCTGCC	0.562																																					p.L1709P													.	PLXNA2	178		0			c.T5126C												90	78	82					1																	208205034		2203	4300	6503	SO:0001583	missense	5362	exon29			AGGGGGAGAGCGC	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.5126T>C	1.37:g.208205034A>G	ENSP00000356000:p.Leu1709Pro		174	0.0057471264	1		200	0.02	4	NM_025179	138	0	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279834	0.80692	.	.	ENSG00000076356	ENST00000367033	T	0.23552	1.9	4.4	4.4	0.53042	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.141387	0.48767	D	0.000165	T	0.47322	0.1439	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50533	-0.8817	10	0.87932	D	0	.	13.8239	0.63340	1.0:0.0:0.0:0.0	.	1709	O75051	PLXA2_HUMAN	P	1709	ENSP00000356000:L1709P	ENSP00000356000:L1709P	L	-	2	0	PLXNA2	206271657	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	8.792000	0.91856	1.859000	0.53934	0.533000	0.62120	CTC			0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088932.6		NM_025179		G	208205034	A	G	208205034	3	3	64	1	0	0	0	0	1	0	0	0	12137	304	11	4	574	4	PLXNA2	1	208205034	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	171316631	208205034	41045587	6	4562											
LAMB3	3914	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	209799360	209799361	+	Frame_Shift_Del	DEL	CA	CA	-																															gccctctgttccccggaaatCacagtcacaggctagggcca																										TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	CA	CA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:209799360_209799361delCA	ENST00000356082.4	-	14	1742_1743	c.1608_1609delTG	c.(1606-1611)tgtgatfs	p.CD536fs	LAMB3_ENST00000367030.3_Frame_Shift_Del_p.CD536fs|LAMB3_ENST00000391911.1_Frame_Shift_Del_p.CD536fs|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	536	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|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)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCCCGGAAATCACAGTCACAGG	0.634																																					p.537_537del													.	LAMB3	136		0			c.1609_1610del																																									SO:0001589	frameshift_variant	3914	exon14			GGAAATCACAGTC	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1608_1609delTG	1.37:g.209799362_209799363delCA	ENSP00000348384:p.Cys536fs		95	0	0		113	0.33	37	NM_000228	0		0	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Frame_Shift_Del	DEL	ENST00000356082.4	37	CCDS1487.1																																																																																					0.634	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088525.2		NM_000228		-	209799361	CA	-	209799360	7	5	64	1	0	1	0	1	0	0	0	0	8627	826	29	0	1949	0	LAMB3	1	209799360	Frame_Shift_Del	DEL	CA	TCGA-2G-AALF-01A-11D-A42Y-10	1594326	209799360	39451261	7	4563											
FBXO41	150726	mdanderson.org	37	chr2	73493769	73493769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcgctggcctcccgcGccgccgtctccttcaggaac	3	8	12	18	5	2	0	1	0	1	0	4	1	3	1	5	3	1	2	5	3	1	2	rs369432452		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr2:73493769G>T	ENST00000521871.1	-	3	1362	c.947C>A	c.(946-948)gCg>gAg	p.A316E	FBXO41_ENST00000520530.2_Missense_Mutation_p.A316E|FBXO41_ENST00000295133.5_Missense_Mutation_p.A377E			Q8TF61	FBX41_HUMAN	F-box protein 41	316										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCCTCCCGCGCCGCCGTCTC	0.672																																					p.A316E													FBXO41_ENST00000521871,colon,carcinoma,0,1	FBXO41_ENST00000521871	0	1	0			c.C947A												31	34	33					2																	73493769		2023	4181	6204	SO:0001583	missense	150726	exon2			TCCCGCGCCGCCG	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.947C>A	2.37:g.73493769G>T	ENSP00000428646:p.Ala316Glu		25	0	0		32	0.09	3	NM_001080410	0		0	G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498663	0.26861	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	T;T	0.21361	2.01;2.01	5.17	5.17	0.71159	.	0.510111	0.20823	N	0.085030	T	0.13286	0.0322	N	0.19112	0.55	0.54753	D	0.99998	B	0.31040	0.305	B	0.31191	0.125	T	0.11275	-1.0594	10	0.11794	T	0.64	.	13.0305	0.58839	0.0:0.1623:0.8377:0.0	.	316	Q8TF61	FBX41_HUMAN	E	377;316;377	ENSP00000295133:A377E;ENSP00000428646:A316E	ENSP00000295133:A377E	A	-	2	0	FBXO41	73347277	1.000000	0.71417	0.500000	0.27589	0.854000	0.48673	6.165000	0.71891	2.408000	0.81797	0.453000	0.30009	GCG			0.672	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377381.1				T	73493769	G	T	73493769	3	4	64	1	0	0	0	0	1	0	0	0	5763	1087	38	1	1724	1	FBXO41	2	73493769	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		73493769	169705604	8	4564											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152381766	152381766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattttcctttctccttgaCaaacttctttttgtaatttg	7	21	5	8	0	2	1	0	1	2	0	4	2	3	2	2	1	1	1	2	1	2	9			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr2:152381766C>T	ENST00000172853.10	-	123	17227	c.17080G>A	c.(17080-17082)Gtc>Atc	p.V5694I	NEB_ENST00000409198.1_Missense_Mutation_p.V5694I|NEB_ENST00000604864.1_Missense_Mutation_p.V7395I|NEB_ENST00000397345.3_Missense_Mutation_p.V7395I|NEB_ENST00000427231.2_Missense_Mutation_p.V7395I|NEB_ENST00000603639.1_Missense_Mutation_p.V7395I			P20929	NEBU_HUMAN	nebulin	5694					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)		TTCTCCTTGACAAACTTCTTT	0.398																																					p.V7430I													.	.			0			c.G22288A												124	113	116					2																	152381766		1859	4098	5957	SO:0001583	missense	4703	exon152			CCTTGACAAACTT	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.17080G>A	2.37:g.152381766C>T	ENSP00000172853:p.Val5694Ile		112	0	0		109	0.26	28	NM_001271208	1	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	33	5.259983	0.95368	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	6.06	6.06	0.98353	.	0.109020	0.64402	D	0.000012	T	0.51618	0.1685	N	0.22421	0.69	0.80722	D	1	P;P;P	0.51147	0.706;0.942;0.936	P;P;P	0.56960	0.644;0.77;0.81	T	0.49934	-0.8886	10	0.52906	T	0.07	.	16.8285	0.85937	0.0:0.8717:0.1283:0.0	.	5694;7395;2125	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	I	5694;7395;7395;1743;2125;5694	ENSP00000386259:V5694I;ENSP00000380505:V7395I;ENSP00000416578:V7395I;ENSP00000410961:V2125I;ENSP00000172853:V5694I	ENSP00000172853:V5694I	V	-	1	0	NEB	152090012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.820000	0.62671	2.871000	0.98454	0.655000	0.94253	GTC			0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding				NM_004543		T	152381766	C	T	152381766	3	4	64	1	0	0	0	0	1	0	0	0	10319	478	17	3	3522	3	NEB	2	152381766	Missense_Mutation	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	78887997	152381766	90817607	9	4565											
B3GNT7	93010	mdanderson.org	37	chr2	232263436	232263436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgggcatgtgcctggagGtgctgggcgtgcagcccacg	4	9	17	11	2	1	0	0	0	1	0	1	1	1	1	2	4	4	3	2	4	0	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr2:232263436G>T	ENST00000287590.5	+	2	1267	c.1006G>T	c.(1006-1008)Gtg>Ttg	p.V336L		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	336					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 membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GTGCCTGGAGGTGCTGGGCGT	0.657																																					p.V336L													.	.			0			c.G1006T												40	47	45					2																	232263436		2056	4183	6239	SO:0001583	missense	93010	exon2			CTGGAGGTGCTGG	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.1006G>T	2.37:g.232263436G>T	ENSP00000287590:p.Val336Leu		56	0	0		41	0.07	3	NM_145236	2	0	0	B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032319	0.54790	.	.	ENSG00000156966	ENST00000287590	T	0.40476	1.03	5.05	4.14	0.48551	.	0.126772	0.52532	D	0.000061	T	0.35008	0.0917	L	0.37697	1.125	0.58432	D	0.999994	P	0.43938	0.822	B	0.40702	0.338	T	0.18681	-1.0329	10	0.40728	T	0.16	.	14.6227	0.68597	0.0:0.1457:0.8543:0.0	.	336	Q8NFL0	B3GN7_HUMAN	L	336	ENSP00000287590:V336L	ENSP00000287590:V336L	V	+	1	0	B3GNT7	231971680	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.714000	0.61902	2.355000	0.79922	0.561000	0.74099	GTG			0.657	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000332827.1		NM_145236		T	232263436	G	T	232263436	3	4	64	1	0	0	0	0	1	0	0	0	1262	1261	44	3	1012	3	B3GNT7	2	232263436	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	79881670	232263436	10935937	10	4566											
ITGA9	3680	mdanderson.org	37	chr3	37550050	37550050	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttttttttcattccatagGtttatattttcagagctgac	8	22	5	6	0	2	2	2	1	0	1	3	2	3	2	1	1	1	2	1	1	3	12			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr3:37550050G>T	ENST00000264741.5	+	8	1085	c.829G>T	c.(829-831)Gtt>Ttt	p.V277F	ITGA9_ENST00000422441.1_Splice_Site_p.V277F	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	277					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CATTCCATAGGTTTATATTTT	0.333																																					p.V277F													.	.			0			c.G829T												66	68	67					3																	37550050		2203	4300	6503	SO:0001630	splice_region_variant	3680	exon8			CCATAGGTTTATA	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.829-1G>T	3.37:g.37550050G>T			38	0	0		43	0.07	3	NM_002207	0		0	Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497775	0.85069	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.19532	2.14;2.14	4.6	4.6	0.57074	.	0.061932	0.64402	D	0.000004	T	0.56819	0.2011	M	0.93375	3.41	0.80722	D	1	D;D	0.67145	0.996;0.988	D;D	0.67231	0.95;0.928	T	0.71751	-0.4498	9	.	.	.	.	17.4352	0.87549	0.0:0.0:1.0:0.0	.	277;277	Q13797;E9PDS3	ITA9_HUMAN;.	F	277	ENSP00000397258:V277F;ENSP00000264741:V277F	.	V	+	1	0	ITGA9	37525054	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	5.452000	0.66638	2.097000	0.63578	0.655000	0.94253	GTT			0.333	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253361.1		NM_002207	Missense_Mutation	T	37550050	G	T	37550050	5	4	64	1	0	0	0	0	0	0	1	0	7898	1275	44	3	859	3	ITGA9	3	37550050	Splice_Site	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		37550050	160472380	11	4567											
TMEM108	66000	broad.mit.edu	37	chr3	133099916	133099916	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatgtggccgagggggAcaaaccgcagcacagagcca	11	3	13	14	2	0	1	0	0	0	1	1	3	1	2	4	3	3	2	4	3	1	0			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr3:133099916A>G	ENST00000321871.6	+	4	1571	c.1361A>G	c.(1360-1362)gAc>gGc	p.D454G	TMEM108_ENST00000515826.1_Missense_Mutation_p.D454G|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.D454G	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	454						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCGAGGGGGACAAACCGCAG	0.622																																					p.D454G													.	TMEM108	67		0			c.A1361G												119	99	106					3																	133099916		2203	4300	6503	SO:0001583	missense	66000	exon4			AGGGGGACAAACC	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1361A>G	3.37:g.133099916A>G	ENSP00000324651:p.Asp454Gly		164	0.006097561	1		212	0.02	5	NM_023943	0		0	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269667	0.59540	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.60040	0.39;0.39;0.22	3.76	3.76	0.43208	.	0.159344	0.38959	N	0.001503	T	0.67757	0.2927	L	0.60455	1.87	0.36988	D	0.894642	D;B	0.71674	0.998;0.27	D;B	0.78314	0.991;0.302	T	0.73000	-0.4120	10	0.59425	D	0.04	-15.8929	7.8354	0.29368	0.9045:0.0:0.0955:0.0	.	454;454	E9PB58;Q6UXF1	.;TM108_HUMAN	G	454	ENSP00000324651:D454G;ENSP00000376838:D454G;ENSP00000423338:D454G	ENSP00000324651:D454G	D	+	2	0	TMEM108	134582606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.558000	0.60789	1.711000	0.51337	0.459000	0.35465	GAC			0.622	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356907.2		NM_023943		G	133099916	A	G	133099916	3	3	64	1	0	0	0	0	1	0	0	0	16047	275	10	4	1367	4	TMEM108	3	133099916	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	95549866	133099916	64922514	12	4568											
FAM194A	131831	broad.mit.edu	37	chr3	150421540	150421540	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcctcctcctcctccTccacctcttcctcctcctcc	2	12	0	27	0	1	0	0	0	1	0	11	0	11	0	13	0	0	0	13	0	0	1	rs373770678		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr3:150421540T>A	ENST00000295910.6	-	1	198	c.146A>T	c.(145-147)gAg>gTg	p.E49V	RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	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						ctcctcctcctccacctcttc	0.602													t|||	1	0.000199681	0	0	5008	,	,		4577	0		0.001	False		,,,				2504	0				p.E49V													.	FAM194A	91		0			c.A146T							T	VAL/GLU	0,4406		0,0,2203	133	114	121		146	0.4	0	3		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM194A	NM_152394.3	121	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	possibly-damaging	49/664	150421540	1,13005	2203	4300	6503	SO:0001583	missense	131831	exon1			TCCTCCTCCACCT																												ENST00000295910.6:c.146A>T	3.37:g.150421540T>A	ENSP00000295910:p.Glu49Val		104	0.0096153846	1		131	0.05	6	NM_152394	0		0		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	12.23	1.875790	0.33162	0.0	1.16E-4	ENSG00000163645	ENST00000295910;ENST00000474463	T;T	0.55930	2.58;0.49	1.59	0.41	0.16387	.	1.029790	0.07857	N	0.965596	T	0.22975	0.0555	N	0.08118	0	0.09310	N	0.999992	P	0.40302	0.712	B	0.29862	0.108	T	0.09930	-1.0652	10	0.29301	T	0.29	-0.7638	3.0803	0.06260	0.0:0.2792:0.0:0.7208	.	49	Q7L0X2	F194A_HUMAN	V	49	ENSP00000295910:E49V;ENSP00000419304:E49V	ENSP00000295910:E49V	E	-	2	0	FAM194A	151904230	0.000000	0.05858	0.032000	0.17829	0.050000	0.14768	-0.743000	0.04845	0.136000	0.18733	0.352000	0.21897	GAG			0.602	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257666.1				A	150421540	T	A	150421540	3	1	64	1	0	0	0	0	1	0	0	0	5536	1551	54	5	1901	5	FAM194A	3	150421540	Missense_Mutation	SNP	T	TCGA-2G-AALF-01A-11D-A42Y-10	17321624	150421540	47600890	13	4569											
ATP8A1	10396	hgsc.bcm.edu	37	chr4	42524317	42524317	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacataaagttcttaaccCtgaaaaagatagcatacatc	20	9	4	8	0	1	2	0	1	1	1	2	2	1	2	1	0	4	2	1	0	9	5			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr4:42524317C>A	ENST00000381668.5	-	22	2039		c.e22-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTTCTTAACCCTGAAAAAGAT	0.408																																					.													.	.			0			c.1763-1G>T												60	59	59					4																	42524317		2203	4300	6503	SO:0001630	splice_region_variant	10396	exon22			TTAACCCTGAAAA	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1808-1G>T	4.37:g.42524317C>A			71	0	0		65	0.08	5	NM_001105529	0		0	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074882	0.36566	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8487	0.96730	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42219074	1.000000	0.71417	0.991000	0.47740	0.020000	0.10135	6.864000	0.75494	2.748000	0.94277	0.650000	0.86243	.			0.408	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000216861.2		NM_006095	Intron	A	42524317	C	A	42524317	5	1	64	1	0	0	0	0	0	0	1	0	1192	695	24	3	1751	3	ATP8A1	4	42524317	Splice_Site	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10		42524317	148629959	14	4570											
SETD7	80854	mdanderson.org	37	chr4	140432921	140432921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcatagccataggcaaCggtgagctcttcatcggcct	8	10	12	11	2	3	1	2	1	1	0	4	1	3	1	2	4	3	2	2	4	3	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr4:140432921C>T	ENST00000274031.3	-	8	1633	c.997G>A	c.(997-999)Gtt>Att	p.V333I	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	333	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|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)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCATAGGCAACGGTGAGCTCT	0.587																																					p.V333I													.	.			0			c.G997A												84	81	82					4																	140432921		2203	4300	6503	SO:0001583	missense	80854	exon8			AGGCAACGGTGAG	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"Chromatin-modifying enzymes / K-methyltransferases"	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.997G>A	4.37:g.140432921C>T	ENSP00000274031:p.Val333Ile		54	0	0		47	0.06	3	NM_030648	1	0	0	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682692	0.88542	.	.	ENSG00000145391	ENST00000274031	T	0.80033	-1.33	5.8	4.95	0.65309	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	L	0.53729	1.69	0.80722	D	1	P	0.45126	0.851	P	0.44447	0.45	T	0.83198	-0.0080	10	0.87932	D	0	-14.0578	16.952	0.86248	0.0:0.8723:0.1277:0.0	.	333	Q8WTS6	SETD7_HUMAN	I	333	ENSP00000274031:V333I	ENSP00000274031:V333I	V	-	1	0	SETD7	140652371	1.000000	0.71417	0.796000	0.32109	0.997000	0.91878	7.607000	0.82883	1.454000	0.47793	0.561000	0.74099	GTT			0.587	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257236.1		NM_030648		T	140432921	C	T	140432921	3	4	64	1	0	0	0	0	1	0	0	0	14159	536	19	1	107	1	SETD7	4	140432921	Missense_Mutation	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	97908604	140432921	50721355	15	4571											
SETD7	80854	mdanderson.org	37	chr4	140432973	140432973	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcggatgcatttgatGggcccaaaacgggggtggac	9	7	18	7	2	0	1	0	1	0	0	0	3	0	3	1	6	3	1	1	6	2	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr4:140432973G>T	ENST00000274031.3	-	8	1581	c.945C>A	c.(943-945)ccC>ccA	p.P315P	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	315	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|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)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TGCATTTGATGGGCCCAAAAC	0.582																																					p.P315P													.	.			0			c.C945A												80	77	78					4																	140432973		2203	4300	6503	SO:0001819	synonymous_variant	80854	exon8			TTTGATGGGCCCA	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"Chromatin-modifying enzymes / K-methyltransferases"	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.945C>A	4.37:g.140432973G>T			40	0	0		42	0.07	3	NM_030648	0		0	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Silent	SNP	ENST00000274031.3	37	CCDS3748.1																																																																																					0.582	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257236.1		NM_030648		T	140432973	G	T	140432973	2	4	64	1	0	0	0	0	0	0	0	1	14159	1335	47	3		3	SETD7	4	140432973	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	52	140432973	50721303	16	4572											
FAT2	2196	mdanderson.org	37	chr5	150923405	150923405	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgatgagctgttaatgAagaagtgcctgtcctgattg	9	13	11	8	1	0	4	0	3	0	1	2	5	2	4	3	0	2	2	3	0	3	3	rs6892335	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr5:150923405A>T	ENST00000261800.5	-	9	7295	c.7283T>A	c.(7282-7284)tTc>tAc	p.F2428Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2428	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.		F -> S (in dbSNP:rs6892335).		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)			GCTGTTAATGAAGAAGTGCCT	0.468																																					p.F2428Y													.	.			0			c.T7283A												54	51	52					5																	150923405		2203	4300	6503	SO:0001583	missense	2196	exon9			TTAATGAAGAAGT	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.7283T>A	5.37:g.150923405A>T	ENSP00000261800:p.Phe2428Tyr		67	0	0		63	0.03	2	NM_001447	0		0	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	9.354	1.066175	0.20067	.	.	ENSG00000086570	ENST00000261800	T	0.51071	0.72	5.58	4.7	0.59300	Cadherin (4);Cadherin-like (1);	0.181155	0.38605	N	0.001626	T	0.23014	0.0556	N	0.03177	-0.4	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.13415	-1.0510	10	0.25106	T	0.35	.	10.0339	0.42118	0.2089:0.0:0.7911:0.0	.	2428	Q9NYQ8	FAT2_HUMAN	Y	2428	ENSP00000261800:F2428Y	ENSP00000261800:F2428Y	F	-	2	0	FAT2	150903598	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.327000	0.43858	1.375000	0.46248	-0.215000	0.12644	TTC			0.468	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252434.1		NM_001447		T	150923405	A	T	150923405	3	4	64	1	0	0	0	0	1	0	0	0	5703	246	9	5	5826	5	FAT2	5	150923405	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10		150923405	29991855	17	4573											
FOXF2	2295	broad.mit.edu	37	chr6	1390978	1390980	+	In_Frame_Del	DEL	CAC	CAC	-																															cccccagccacgcgcaccctCaccaccaccaccaccaccac																										TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	CAC	CAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr6:1390978_1390980delCAC	ENST00000259806.1	+	1	910_912	c.796_798delCAC	c.(796-798)cacdel	p.H272del		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	272	Poly-His.				embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CGCGCACCCTcaccaccaccacc	0.768																																					p.266_266del													.	FOXF2	28		0			c.796_798del									14,1482		3,8,737						-5.5	0.6			2	53,3199		10,33,1583	no	coding	FOXF2	NM_001452.1		13,41,2320	A1A1,A1R,RR		1.6298,0.9358,1.4111				67,4681				SO:0001651	inframe_deletion	2295	exon1			CACCCTCACCACC	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.796_798delCAC	6.37:g.1390987_1390989delCAC	ENSP00000259806:p.His272del		8	0	0		6	0.33	2	NM_001452	0		0	Q5TGJ1|Q9UQ85	In_Frame_Del	DEL	ENST00000259806.1	37	CCDS4472.1																																																																																					0.768	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043558.1				-	1390980	CAC	-	1390978	7	5	64	1	0	1	0	1	0	0	0	0	6019	826	29	0	798	0	FOXF2	6	1390978	In_Frame_Del	DEL	CAC	TCGA-2G-AALF-01A-11D-A42Y-10		1390978	169724089	18	4574											
BAT4	7918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31631709	31631709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagccagcttcttcagcgaGctgagccgcatccctgccac	8	7	10	16	2	2	1	1	1	1	0	3	3	3	1	4	0	6	3	4	0	1	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr6:31631709G>A	ENST00000375906.1	-	3	1231	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	GPANK1_ENST00000375895.2_Missense_Mutation_p.L183F|GPANK1_ENST00000375900.4_Missense_Mutation_p.L183F|GPANK1_ENST00000375893.2_Missense_Mutation_p.L183F|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375896.4_Missense_Mutation_p.L183F|CSNK2B_ENST00000375885.4_5'Flank|CSNK2B_ENST00000375865.2_5'Flank|CSNK2B_ENST00000375866.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	183							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TCTTCAGCGAGCTGAGCCGCA	0.637																																					p.L183F													.	.			0			c.C547T												50	52	51					6																	31631709		2203	4300	6503	SO:0001583	missense	7918	exon3			CAGCGAGCTGAGC		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.547C>T	6.37:g.31631709G>A	ENSP00000365071:p.Leu183Phe		71	0	0		54	0.46	25	NM_001199238	90	0.43	39	A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000087	0.74818	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.25	2.53	0.30540	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000005	T	0.32823	0.0842	L	0.45137	1.4	0.51233	D	0.999914	D	0.89917	1.0	D	0.80764	0.994	T	0.10042	-1.0647	10	0.46703	T	0.11	-7.9403	7.6853	0.28536	0.3255:0.0:0.6745:0.0	.	183	O95872	GPAN1_HUMAN	F	183	ENSP00000365071:L183F;ENSP00000365060:L183F;ENSP00000365057:L183F;ENSP00000365059:L183F;ENSP00000365065:L183F	ENSP00000365057:L183F	L	-	1	0	GPANK1	31739688	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	1.312000	0.33574	0.235000	0.21160	-0.258000	0.10820	CTC			0.637	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000144445.2		NM_033177		A	31631709	G	A	31631709	3	1	64	1	0	0	0	0	1	0	0	0	1323	971	34	2	531	2	BAT4	6	31631709	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	30240731	31631709	139483358	19	4575											
CSNK2B	1460	mdanderson.org	37	chr6	31635645	31635645	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcttccatgtcctgacagGtggatgaagactacatccag	10	10	11	10	0	0	3	0	2	0	1	3	4	3	4	3	3	1	1	3	3	2	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr6:31635645G>T	ENST00000375882.2	+	3	229	c.73G>T	c.(73-75)Gtg>Ttg	p.V25L	GPANK1_ENST00000375906.1_5'Flank|GPANK1_ENST00000375895.2_5'Flank|GPANK1_ENST00000375900.4_5'Flank|GPANK1_ENST00000375893.2_5'Flank|LY6G5B_ENST00000409525.1_5'Flank|GPANK1_ENST00000375896.4_5'Flank|CSNK2B_ENST00000375885.4_Splice_Site_p.V44L|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375865.2_Splice_Site_p.V25L|CSNK2B_ENST00000375866.2_Splice_Site_p.V25L|CSNK2B-LY6G5B-1181_ENST00000375880.2_Splice_Site_p.V25L	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	25					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						GTCCTGACAGGTGGATGAAGA	0.458																																					p.V25L													.	.			0			c.G73T												104	93	97					6																	31635645		2203	4300	6503	SO:0001630	splice_region_variant	1460	exon3			TGACAGGTGGATG	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.73-1G>T	6.37:g.31635645G>T			58	0	0		44	0.07	3	NM_001320	366	0	0	B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171763	0.78452	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.64	3.86	0.44501	Casein kinase II, regulatory subunit, alpha-helical (1);	0.134719	0.49916	D	0.000137	T	0.76969	0.4062	H	0.95504	3.68	0.58432	D	0.999996	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.63597	0.916;0.909;0.916	T	0.82912	-0.0222	8	0.87932	D	0	-13.8306	10.2447	0.43334	0.161:0.0:0.839:0.0	.	25;25;25	B0UXA9;Q5SRQ3;P67870	.;.;CSK2B_HUMAN	L	44;25;25;25;25	.	ENSP00000365025:V25L	V	+	1	0	CSNK2B	31743624	1.000000	0.71417	0.995000	0.50966	0.663000	0.39108	9.013000	0.93629	0.740000	0.32651	0.655000	0.94253	GTG			0.458	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076063.8		NM_001320	Missense_Mutation	T	31635645	G	T	31635645	5	4	64	1	0	0	0	0	0	0	1	0	3961	1275	44	3	79	3	CSNK2B	6	31635645	Splice_Site	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	3936	31635645	139479422	20	4576											
UTRN	7402	broad.mit.edu;mdanderson.org	37	chr6	144869950	144869950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccaacattgtcactgttgGggatgtagaagagatcaata	13	11	11	6	0	2	2	2	0	0	2	3	4	3	3	1	2	1	2	1	2	5	4			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr6:144869950G>T	ENST00000367545.3	+	46	6770	c.6770G>T	c.(6769-6771)gGg>gTg	p.G2257V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2257					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)		GTCACTGTTGGGGATGTAGAA	0.428																																					p.G2257V													.	UTRN	327		0			c.G6770T												98	92	94					6																	144869950		2203	4300	6503	SO:0001583	missense	7402	exon46			CTGTTGGGGATGT	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.6770G>T	6.37:g.144869950G>T	ENSP00000356515:p.Gly2257Val		92	0	0		58	0.07	4	NM_007124	0		0	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781588	0.90282	.	.	ENSG00000152818	ENST00000367545	T	0.50548	0.74	5.38	5.38	0.77491	.	0.000000	0.53938	D	0.000052	T	0.65811	0.2727	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.68872	-0.5294	10	0.87932	D	0	.	19.5077	0.95125	0.0:0.0:1.0:0.0	.	2257	P46939	UTRO_HUMAN	V	2257	ENSP00000356515:G2257V	ENSP00000356515:G2257V	G	+	2	0	UTRN	144911643	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.923000	0.92808	2.683000	0.91414	0.655000	0.94253	GGG			0.428	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042551.1				T	144869950	G	T	144869950	3	4	64	1	0	0	0	0	1	0	0	0	17127	1232	43	3	6952	3	UTRN	6	144869950	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	113234305	144869950	26245117	21	4577											
TNRC18	84629	mdanderson.org	37	chr7	5427362	5427362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcccaggccccagccggCcactgccgccactgtccttc	5	5	9	22	2	0	0	0	0	0	0	2	0	1	0	9	2	3	0	9	2	0	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:5427362C>T	ENST00000430969.1	-	5	2441	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D	TNRC18_ENST00000399537.4_Missense_Mutation_p.G698D	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	698							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)		CCCCAGCCGGCCACTGCCGCC	0.677																																					p.G698D													.	.			0			c.G2093A												28	35	33					7																	5427362		1895	4011	5906	SO:0001583	missense	84629	exon5			AGCCGGCCACTGC	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.2093G>A	7.37:g.5427362C>T	ENSP00000395538:p.Gly698Asp		32	0	0		26	0.12	3	NM_001080495	16	0	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789667	0.31685	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.11169	2.8;2.8	3.47	3.47	0.39725	.	.	.	.	.	T	0.06142	0.0159	N	0.08118	0	0.23271	N	0.998004	B	0.27498	0.18	B	0.25405	0.06	T	0.31586	-0.9938	9	0.39692	T	0.17	.	10.7431	0.46164	0.0:0.8069:0.1931:0.0	.	698	O15417	TNC18_HUMAN	D	698;698;100	ENSP00000382452:G698D;ENSP00000395538:G698D	ENSP00000382452:G698D	G	-	2	0	TNRC18	5393888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.801000	0.47908	1.914000	0.55421	0.561000	0.74099	GGC			0.677	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding						T	5427362	C	T	5427362	3	4	64	1	0	0	0	0	1	0	0	0	16362	739	26	2	6917	2	TNRC18	7	5427362	Missense_Mutation	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10		5427362	153711301	22	4578											
ITGB8	3696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	20406739	20406739	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatacccatctgtgcatgtTataatacccactgaaaatga	15	11	6	9	0	1	2	0	2	1	0	1	3	1	2	2	0	3	2	2	0	7	4			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:20406739T>G	ENST00000222573.4	+	3	1002	c.318T>G	c.(316-318)gtT>gtG	p.V106V	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	106					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						CTGTGCATGTTATAATACCCA	0.373																																					p.V106V													.	.			0			c.T318G												118	119	118					7																	20406739		2203	4300	6503	SO:0001819	synonymous_variant	3696	exon3			GCATGTTATAATA		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.318T>G	7.37:g.20406739T>G			77	0	0		119	0.24	29	NM_002214	5	0.4	2	A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	CCDS5370.1																																																																																					0.373	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059915.3		NM_002214		G	20406739	T	G	20406739	2	3	64	1	0	0	0	0	0	0	0	1	7916	1741	61	4		4	ITGB8	7	20406739	Silent	SNP	T	TCGA-2G-AALF-01A-11D-A42Y-10	14979377	20406739	138731924	23	4579											
SKAP2	8935	broad.mit.edu	37	chr7	26766623	26766626	+	Splice_Site	DEL	TGTC	TGTC	-																															aaattcacctttctgttgttTgtctgttgaagataaaacca																										TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	TGTC	TGTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:26766623_26766626delTGTC	ENST00000345317.2	-	7	783_785	c.470_472delGACA	c.(469-474)ggacaa>gaa	p.GQ157fs	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	157	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)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TTCTGTTGTTTGTCTGTTGAAGAT	0.294																																					p.157_158del													SKAP2,caecum,carcinoma,+1,1	SKAP2	40	1	0			c.470_472del																																									SO:0001630	splice_region_variant	8935	exon7			GTTGTTTGTCTGT		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.470-1GACA>-	7.37:g.26766623_26766626delTGTC			36	0	0		103	0.07	7	NM_003930	0		0	A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Splice_Site	DEL	ENST00000345317.2	37	CCDS5400.1																																																																																					0.294	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214128.1			Frame_Shift_Del	-	26766626	TGTC	-	26766623	8	5	64	1	0	1	0	1	0	0	1	0	14379	1821	63	0	631	0	SKAP2	7	26766623	Splice_Site	DEL	TGTC	TCGA-2G-AALF-01A-11D-A42Y-10	6359884	26766623	132372040	24	4580											
PPIA	5478	mdanderson.org	37	chr7	44839373	44839373	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaatttgaagatgagaacTtcatcctaaagcatacgggt	16	10	9	6	1	1	4	1	2	0	3	2	5	2	4	1	1	3	1	1	1	6	4			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:44839373T>A	ENST00000468812.1	+	4	307	c.262T>A	c.(262-264)Ttc>Atc	p.F88I	PPIA_ENST00000451562.1_Missense_Mutation_p.F88I|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000489459.1_Missense_Mutation_p.F28I|PPIA_ENST00000355968.6_Missense_Mutation_p.F28I	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	88	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	AGATGAGAACTTCATCCTAAA	0.463																																					p.F88I	Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)												.	.			0			c.T262A												113	107	109					7																	44839373		2203	4298	6501	SO:0001583	missense	5478	exon4			GAGAACTTCATCC	X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.262T>A	7.37:g.44839373T>A	ENSP00000419425:p.Phe88Ile		15	0	0		21	0.14	3	NM_021130	5067	0	2	A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Missense_Mutation	SNP	ENST00000468812.1	37	CCDS5494.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871442	0.72065	.	.	ENSG00000196262	ENST00000451562;ENST00000468812;ENST00000489459;ENST00000355968;ENST00000244636	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.24	4.08	0.47627	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	U	0.000000	T	0.64416	0.2596	H	0.95982	3.75	0.47659	D	0.999486	B	0.28900	0.227	B	0.36244	0.22	T	0.67624	-0.5623	10	0.72032	D	0.01	.	10.5716	0.45204	0.0:0.0767:0.0:0.9233	.	88	P62937	PPIA_HUMAN	I	88;88;28;28;28	ENSP00000405975:F88I;ENSP00000419425:F88I;ENSP00000427976:F28I;ENSP00000430817:F28I	ENSP00000442606:F28I	F	+	1	0	PPIA	44805898	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.842000	0.86851	0.836000	0.34901	0.460000	0.39030	TTC			0.463	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251293.1		NM_021130		A	44839373	T	A	44839373	3	1	64	1	0	0	0	0	1	0	0	0	12333	1609	56	5	276	5	PPIA	7	44839373	Missense_Mutation	SNP	T	TCGA-2G-AALF-01A-11D-A42Y-10	18072750	44839373	114299290	25	4581											
POR	5447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	75615073	75615073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccagttccgcctgcccttCaaggccaccacgcctgtcat	6	9	7	19	2	2	0	2	0	0	0	4	0	4	0	7	1	1	1	7	1	1	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:75615073C>G	ENST00000461988.1	+	13	1680	c.1575C>G	c.(1573-1575)ttC>ttG	p.F525L	TMEM120A_ENST00000493111.2_RNA|POR_ENST00000419840.1_Intron|POR_ENST00000394893.1_Missense_Mutation_p.F525L|POR_ENST00000439269.1_Missense_Mutation_p.F263L|POR_ENST00000545601.1_Missense_Mutation_p.F333L|POR_ENST00000450476.1_Missense_Mutation_p.F424L|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	522					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GCCTGCCCTTCAAGGCCACCA	0.687																																					p.F525L													.	.			0			c.C1575G												17	21	20					7																	75615073		2050	4138	6188	SO:0001583	missense	5447	exon13			GCCCTTCAAGGCC	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1575C>G	7.37:g.75615073C>G	ENSP00000419970:p.Phe525Leu		82	0	0		86	0.16	14	NM_000941	133	0.24	32	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	CCDS5579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.91|13.91	2.377962|2.377962	0.42105|0.42105	.|.	.|.	ENSG00000127948|ENSG00000127948	ENST00000461988;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269|ENST00000447222	T;T;T;T;T|.	0.75938|.	-0.98;-0.98;-0.98;-0.98;-0.98|.	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70736|0.70736	0.3258|0.3258	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.15473|.	0.002;0.013;0.004;0.001|.	B;B;B;B|.	0.08055|.	0.0;0.003;0.002;0.001|.	T|T	0.69643|0.69643	-0.5090|-0.5090	10|5	0.10902|.	T|.	0.67|.	-16.9787|-16.9787	16.7187|16.7187	0.85404|0.85404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	522;424;333;531|.	P16435;E7EVY7;F5H468;Q59ED7|.	NCPR_HUMAN;.;.;.|.	L|E	525;525;333;424;263|576	ENSP00000419970:F525L;ENSP00000378355:F525L;ENSP00000446149:F333L;ENSP00000416572:F424L;ENSP00000412490:F263L|.	ENSP00000378355:F525L|.	F|Q	+|+	3|1	2|0	POR|POR	75453009|75453009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.735000|5.735000	0.68587|0.68587	2.489000|2.489000	0.83994|0.83994	0.561000|0.561000	0.74099|0.74099	TTC|CAA			0.687	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252796.7		NM_000941		G	75615073	C	G	75615073	3	3	64	1	0	0	0	0	1	0	0	0	12274	825	29	5	1621	5	POR	7	75615073	Missense_Mutation	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	30775700	75615073	83523590	26	4582											
PUS7	54517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	105105799	105105799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacatcgaaaccaggcaaggGcattaccacatcatggatag	16	6	9	10	1	1	0	1	0	0	0	2	2	1	1	2	3	3	2	2	3	5	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:105105799G>A	ENST00000356362.2	-	13	1802	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S	PUS7_ENST00000469408.1_Missense_Mutation_p.P530S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	530	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.P530S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CCAGGCAAGGGCATTACCACA	0.338																																					p.P530S	Colon(138;2387 3051 17860)												PUS7,NS,carcinoma,+2,2	PUS7	2	2	1	Substitution - Missense(1)	large_intestine(1)	c.C1588T												121	110	114					7																	105105799		2203	4300	6503	SO:0001583	missense	54517	exon13			GCAAGGGCATTAC	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1588C>T	7.37:g.105105799G>A	ENSP00000348722:p.Pro530Ser		61	0	0		87	0.2	17	NM_019042	7	0.57	4	Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.820353	0.90873	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.57907	0.37;0.37	5.91	5.91	0.95273	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81204	-0.1039	10	0.66056	D	0.02	-21.9866	19.2743	0.94026	0.0:0.0:1.0:0.0	.	530;530	B3KY42;Q96PZ0	.;PUS7_HUMAN	S	530	ENSP00000348722:P530S;ENSP00000417402:P530S	ENSP00000348722:P530S	P	-	1	0	PUS7	104893035	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.462000	0.97649	2.785000	0.95823	0.637000	0.83480	CCC			0.338	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348681.1		NM_019042		A	105105799	G	A	105105799	3	1	64	1	0	0	0	0	1	0	0	0	12856	1203	42	2	413	2	PUS7	7	105105799	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	29490726	105105799	54032864	27	4583											
CDHR3	222256	broad.mit.edu	37	chr7	105641932	105641932	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacgagtgtacacagtcctGgaggaactgagtccaggaac	13	6	12	10	1	0	1	0	1	0	0	2	5	2	4	2	3	3	1	2	3	3	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:105641932G>T	ENST00000317716.9	+	7	818	c.738G>T	c.(736-738)ctG>ctT	p.L246L	CDHR3_ENST00000478080.1_Silent_p.L158L|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Silent_p.L246L|CDHR3_ENST00000541203.1_Missense_Mutation_p.W147L|CDHR3_ENST00000343407.5_5'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	246	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)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ACACAGTCCTGGAGGAACTGA	0.517																																					p.L246L													.	CDHR3	153		0			c.G738T												142	139	140					7																	105641932		1992	4156	6148	SO:0001819	synonymous_variant	222256	exon7			AGTCCTGGAGGAA	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.738G>T	7.37:g.105641932G>T			200	0	0		244	0.02	5	NM_152750	0		0	Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653845	0.29425	.	.	ENSG00000128536	ENST00000541203	T	0.33654	1.4	5.49	-9.92	0.00455	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34601	-0.9822	5	.	.	.	-0.0711	2.1744	0.03858	0.4302:0.3015:0.1638:0.1045	.	.	.	.	L	147	ENSP00000443733:W147L	.	W	+	2	0	CDHR3	105429168	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.106000	0.00602	-2.256000	0.00695	-0.878000	0.02970	TGG			0.517	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000349025.2		NM_152750		T	105641932	G	T	105641932	2	4	64	1	0	0	0	0	0	0	0	1	3122	1335	47	3		3	CDHR3	7	105641932	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	536133	105641932	53496731	28	4584											
CPA2	1358	hgsc.bcm.edu;broad.mit.edu	37	chr7	129919488	129919488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaatgtaccaagttagatGactttgatgagctggtgagt	13	12	11	5	0	0	5	0	4	0	1	0	5	0	5	1	1	2	3	1	1	4	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:129919488G>A	ENST00000222481.4	+	9	1028	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	325					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)					CAAGTTAGATGACTTTGATGA	0.428																																					p.D325N													.	.			0			c.G973A												86	75	79					7																	129919488		2203	4300	6503	SO:0001583	missense	1358	exon9			TTAGATGACTTTG	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.973G>A	7.37:g.129919488G>A	ENSP00000222481:p.Asp325Asn		115	0	0		150	0.04	6	NM_001869	3	0	0	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	G	3.616	-0.078561	0.07141	.	.	ENSG00000158516	ENST00000222481	T	0.03524	3.9	6.17	-10.6	0.00265	Peptidase M14, carboxypeptidase A (2);	0.899280	0.09656	N	0.773024	T	0.01976	0.0062	N	0.21142	0.635	0.09310	N	1	B	0.11235	0.004	B	0.22880	0.042	T	0.50197	-0.8856	10	0.05833	T	0.94	.	11.951	0.52954	0.1685:0.3632:0.4683:0.0	.	325	P48052	CBPA2_HUMAN	N	325	ENSP00000222481:D325N	ENSP00000222481:D325N	D	+	1	0	CPA2	129706724	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.108000	0.10857	-1.412000	0.02030	-3.461000	0.00035	GAC			0.428	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347124.2		NM_001869		A	129919488	G	A	129919488	3	1	64	1	0	0	0	0	1	0	0	0	3792	1290	45	3	1007	3	CPA2	7	129919488	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	24277556	129919488	29219175	29	4585											
MLL3	58508	broad.mit.edu	37	chr7	151921174	151921174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagactggacaggaagataaGcttgcacaaggagcgcactg	14	5	13	9	1	0	2	0	0	0	2	0	5	0	5	0	3	3	3	0	3	3	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:151921174G>A	ENST00000262189.6	-	20	3467	c.3249C>T	c.(3247-3249)agC>agT	p.S1083S	KMT2C_ENST00000355193.2_Silent_p.S1083S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1083					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.S1083S(2)									AGGAAGATAAGCTTGCACAAG	0.408																																					p.S1083S													MLL3_ENST00000355193,NS,carcinoma,0,2	MLL3	1564	2	2	Substitution - coding silent(2)	endometrium(2)	c.C3249T												56	51	53					7																	151921174		2203	4299	6502	SO:0001819	synonymous_variant	58508	exon20			AGATAAGCTTGCA	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.3249C>T	7.37:g.151921174G>A			164	0	0		226	0.03	6	NM_170606	1	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																					0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3				A	151921174	G	A	151921174	2	1	64	1	0	0	0	0	0	0	0	1	9638	962	34	2		2	MLL3	7	151921174	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	22001686	151921174	7217489	30	4586											
PABPC1	26986	hgsc.bcm.edu	37	chr8	101721953	101721953	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgcgaccaccctccaTcataacctattaaaaaaaag	15	10	4	12	1	1	0	1	0	0	0	2	1	2	0	4	0	3	1	4	0	6	4	rs370158190		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr8:101721953T>A	ENST00000318607.5	-	8	2107	c.979A>T	c.(979-981)Atg>Ttg	p.M327L	PABPC1_ENST00000522387.1_Missense_Mutation_p.M295L|PABPC1_ENST00000519004.1_Missense_Mutation_p.M282L|PABPC1_ENST00000519596.1_5'UTR|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	327	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			CCACCCTCCATCATAACCTAT	0.368																																					p.M327L													PABPC1,NS,carcinoma,+2,1	PABPC1	2	1	0			c.A979T												47	44	45					8																	101721953		2203	4300	6503	SO:0001583	missense	26986	exon8			CCTCCATCATAAC	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.979A>T	8.37:g.101721953T>A	ENSP00000313007:p.Met327Leu		64	0.015625	1		74	0.08	6	NM_002568	289	0	0	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	12.64|12.64|12.64	1.999189|1.999189|1.999189	0.35226|0.35226|0.35226	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	.|T;T;T|.	.|0.05319|.	.|3.46;3.46;3.46|.	4.92|4.92|4.92	4.92|4.92|4.92	0.64577|0.64577|0.64577	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.35393|0.35393|.	0.0930|0.0930|.	N|N|N	0.04203|0.04203|0.04203	-0.255|-0.255|-0.255	0.51767|0.51767|0.51767	D|D|D	0.999939|0.999939|0.999939	.|B;B;B|.	.|0.06786|.	.|0.0;0.001;0.001|.	.|B;B;B|.	.|0.12156|.	.|0.004;0.007;0.007|.	T|T|.	0.27971|0.27971|.	-1.0058|-1.0058|.	5|10|.	.|0.16420|.	.|T|.	.|0.52|.	.|.|.	14.8676|14.8676|14.8676	0.70427|0.70427|0.70427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|295;327;327|.	.|E7ERJ7;B3KT93;P11940|.	.|.;.;PABP1_HUMAN|.	V|L|C	159|327;327;282;295|195	.|ENSP00000313007:M327L;ENSP00000429594:M282L;ENSP00000429395:M295L|.	.|ENSP00000313007:M327L|.	D|M|X	-|-|-	2|1|3	0|0|0	PABPC1|PABPC1|PABPC1	101791129|101791129|101791129	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	4.961000|4.961000|4.961000	0.63681|0.63681|0.63681	1.965000|1.965000|1.965000	0.57142|0.57142|0.57142	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATG|TGA			0.368	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380217.1		NM_002568		A	101721953	T	A	101721953	3	1	64	1	0	0	0	0	1	0	0	0	11380	1435	50	5	959	5	PABPC1	8	101721953	Missense_Mutation	SNP	T	TCGA-2G-AALF-01A-11D-A42Y-10		101721953	44642069	31	4587											
GAS1	2619	mdanderson.org	37	chr9	89561103	89561103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcattcgtccgtgcagcGcagcccgttgaagactttgc	6	9	13	13	5	0	2	0	1	0	1	2	2	1	2	2	1	4	4	2	1	1	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr9:89561103G>A	ENST00000298743.7	-	1	1001	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	198					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						TCCGTGCAGCGCAGCCCGTTG	0.687																																					p.R198C													.	.			0			c.C592T												21	19	20					9																	89561103		2203	4299	6502	SO:0001583	missense	2619	exon1			TGCAGCGCAGCCC		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.592C>T	9.37:g.89561103G>A	ENSP00000298743:p.Arg198Cys		16	0	0		29	0.1	3	NM_002048	0		0	B9EGM4|Q6B086	Missense_Mutation	SNP	ENST00000298743.7	37	CCDS6674.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795245	0.31777	.	.	ENSG00000180447	ENST00000298743	T	0.65364	-0.15	4.34	2.33	0.28932	GDNF/GAS1 (2);	0.148892	0.35207	U	0.003370	T	0.50257	0.1605	L	0.46157	1.445	0.58432	D	0.999992	P	0.42584	0.784	B	0.37387	0.248	T	0.53229	-0.8468	10	0.87932	D	0	-7.387	8.8374	0.35119	0.085:0.1504:0.7645:0.0	.	198	P54826	GAS1_HUMAN	C	198	ENSP00000298743:R198C	ENSP00000298743:R198C	R	-	1	0	GAS1	88750923	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	2.122000	0.41987	0.799000	0.34018	-0.266000	0.10368	CGC			0.687	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052928.1		NM_002048		A	89561103	G	A	89561103	3	1	64	1	0	0	0	0	1	0	0	0	6258	1087	38	1	449	1	GAS1	9	89561103	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		89561103	51652328	32	4588											
KIN	22944	broad.mit.edu	37	chr10	7820886	7820886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaaggtcctgctttttcTttttctccagttccagttgc	5	18	6	12	0	3	0	1	0	2	0	6	0	5	0	3	1	2	3	3	1	1	6			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:7820886T>C	ENST00000379562.4	-	5	520	c.473A>G	c.(472-474)aAg>aGg	p.K158R	KIN_ENST00000535925.1_Missense_Mutation_p.K158R|KIN_ENST00000543003.1_Missense_Mutation_p.K52R	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CTGCTTTTTCTTTTTCTCCAG	0.453																																					p.K158R													.	KIN	39		0			c.A473G												208	209	209					10																	7820886		2203	4300	6503	SO:0001583	missense	22944	exon5			TTTTTCTTTTTCT	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"antigenic determinant of recA protein (mouse) homolog", "KIN, antigenic determinant of recA protein homolog (mouse)"			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.473A>G	10.37:g.7820886T>C	ENSP00000368881:p.Lys158Arg		152	0.0065789474	1		138	0.02	3	NM_012311	32	0	0		Missense_Mutation	SNP	ENST00000379562.4	37	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157924	0.78114	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.91	5.91	0.95273	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	L	0.56396	1.775	0.80722	D	1	D;P;D	0.59767	0.986;0.956;0.982	P;D;D	0.77557	0.843;0.986;0.99	T	0.70676	-0.4806	9	0.21540	T	0.41	-22.4077	16.3483	0.83171	0.0:0.0:0.0:1.0	.	52;158;158	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	R	158;158;52	.	ENSP00000368881:K158R	K	-	2	0	KIN	7860892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.991000	0.88244	2.254000	0.74563	0.533000	0.62120	AAG			0.453	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046683.2		NM_012311		C	7820886	T	C	7820886	3	2	64	1	0	0	0	0	1	0	0	0	8330	1609	56	4	744	4	KIN	10	7820886	Missense_Mutation	SNP	T	TCGA-2G-AALF-01A-11D-A42Y-10		7820886	127713861	33	4589											
ITGA8	8516	mdanderson.org	37	chr10	15761727	15761727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggggcgcgatcagcGgcgcctggcttccccgggga	6	4	18	13	5	1	1	1	0	0	1	2	3	2	2	3	6	2	2	3	6	0	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:15761727G>T	ENST00000378076.3	-	1	397	c.44C>A	c.(43-45)cCg>cAg	p.P15Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	15					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						CGCGATCAGCGGCGCCTGGCT	0.736																																					p.P15Q													.	.			0			c.C44A												5	6	6					10																	15761727		2098	4059	6157	SO:0001583	missense	8516	exon1			ATCAGCGGCGCCT	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.44C>A	10.37:g.15761727G>T	ENSP00000367316:p.Pro15Gln		11	0	0		11	0.18	2	NM_003638	0		0	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	0.171	-1.071386	0.01918	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.91792	-2.91	3.98	-1.36	0.09085	.	0.825912	0.10472	N	0.670719	T	0.81380	0.4810	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.65537	-0.6144	10	0.29301	T	0.29	.	6.4421	0.21854	0.0:0.2395:0.5402:0.2203	.	15;15	F5H818;P53708	.;ITA8_HUMAN	Q	15	ENSP00000367316:P15Q	ENSP00000367316:P15Q	P	-	2	0	ITGA8	15801733	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	-1.900000	0.01599	-0.460000	0.07003	-0.397000	0.06425	CCG			0.736	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046987.1		NM_003638		T	15761727	G	T	15761727	3	4	64	1	0	0	0	0	1	0	0	0	7897	1116	39	1	3267	1	ITGA8	10	15761727	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	7940841	15761727	119773020	34	4590											
MMRN2	79812	mdanderson.org	37	chr10	88702582	88702582	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccagctcgtcccagccGagcgcctgctcctgcagccc	4	5	12	20	4	0	0	0	0	0	0	3	1	2	0	6	1	6	3	6	1	0	0			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:88702582G>T	ENST00000372027.5	-	6	2280	c.1959C>A	c.(1957-1959)ctC>ctA	p.L653L	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	653					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						CGTCCCAGCCGAGCGCCTGCT	0.751																																					p.L653L													.	.			0			c.C1959A												6	7	6					10																	88702582		2066	4034	6100	SO:0001819	synonymous_variant	79812	exon6			CCAGCCGAGCGCC	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.1959C>A	10.37:g.88702582G>T			17	0	0		17	0.12	2	NM_024756	1	0	0	Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	CCDS7379.1																																																																																					0.751	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049179.2		NM_024756		T	88702582	G	T	88702582	2	4	64	1	0	0	0	0	0	0	0	1	9687	1045	37	1		1	MMRN2	10	88702582	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	72940855	88702582	46832165	35	4591											
PDCD4	27250	broad.mit.edu	37	chr10	112647501	112647501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccttagcattggaggggAaggctagtcatagagagatg	12	10	14	5	0	1	2	1	0	0	2	2	5	2	4	1	4	1	2	1	4	5	5			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:112647501A>G	ENST00000280154.7	+	6	908	c.634A>G	c.(634-636)Aag>Gag	p.K212E	PDCD4_ENST00000393104.2_Missense_Mutation_p.K201E|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)	212	MI 1. {ECO:0000255|PROSITE- ProRule:PRU00698}.				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)		ATTGGAGGGGAAGGCTAGTCA	0.353																																					p.K212E	Ovarian(115;1498 1603 9363 40056 40885)												.	PDCD4	39		0			c.A634G												177	159	165					10																	112647501		2203	4300	6503	SO:0001583	missense	27250	exon6			GAGGGGAAGGCTA	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.634A>G	10.37:g.112647501A>G	ENSP00000280154:p.Lys212Glu		141	0	0		173	0.02	3	NM_014456	12	0.08	1	B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864440	0.91511	.	.	ENSG00000150593	ENST00000280154;ENST00000393104;ENST00000444997	T;T;T	0.48836	0.8;0.8;0.8	5.51	5.51	0.81932	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.85373	2.75	0.80722	D	1	P;P;P	0.52692	0.955;0.955;0.955	P;P;P	0.53266	0.722;0.722;0.722	T	0.72704	-0.4213	10	0.66056	D	0.02	-18.4309	15.9219	0.79583	1.0:0.0:0.0:0.0	.	198;212;201	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	E	212;201;198	ENSP00000280154:K212E;ENSP00000376816:K201E;ENSP00000394668:K198E	ENSP00000280154:K212E	K	+	1	0	PDCD4	112637491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.218000	0.71995	0.528000	0.53228	AAG			0.353	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050361.1	rescued with RNA-seq	NM_014456		G	112647501	A	G	112647501	3	3	64	1	0	0	0	0	1	0	0	0	11638	247	9	4	666	4	PDCD4	10	112647501	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	23944919	112647501	22887246	36	4592											
MKI67	4288	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	129901783	129901783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacacttgctgctggagccGgtgtctgttttgcagattcc	5	15	11	10	1	1	1	0	0	1	1	2	2	2	2	2	2	5	4	2	2	1	5	rs373588815		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:129901783G>A	ENST00000368654.3	-	13	8696	c.8321C>T	c.(8320-8322)cCg>cTg	p.P2774L	MKI67_ENST00000368653.3_Missense_Mutation_p.P2414L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2774	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)				TGCTGGAGCCGGTGTCTGTTT	0.512																																					p.P2774L													.	.			0			c.C8321T							G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	124	117	120		7241,8321	-4.1	0	10		120	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	98,98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	2414/2897,2774/3257	129901783	3,13003	2203	4300	6503	SO:0001583	missense	4288	exon13			GGAGCCGGTGTCT	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.8321C>T	10.37:g.129901783G>A	ENSP00000357643:p.Pro2774Leu		156	0	0		133	0.07	9	NM_002417	6	0	0	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.276014	0.01410	0.0	3.49E-4	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.00832	5.64;5.64	3.93	-4.07	0.03975	.	.	.	.	.	T	0.00271	0.0008	N	0.00095	-2.16	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.04013	0.001;0.0;0.001	T	0.45483	-0.9258	9	0.26408	T	0.33	.	4.3342	0.11078	0.3516:0.0:0.4331:0.2153	.	2773;2414;2774	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	2774;2414;2773	ENSP00000357643:P2774L;ENSP00000357642:P2414L	ENSP00000357642:P2414L	P	-	2	0	MKI67	129791773	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.739000	0.04866	-0.478000	0.06823	-0.937000	0.02696	CCG			0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000050999.1		NM_002417		A	129901783	G	A	129901783	3	1	64	1	0	0	0	0	1	0	0	0	9614	1116	39	1	1461	1	MKI67	10	129901783	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	17254282	129901783	5632964	37	4593											
NLRP6	171389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	281495	281495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagggacagggctgcccCggagtggcaccagaggtgac	9	3	18	11	1	0	2	0	1	0	1	0	5	0	5	3	6	1	2	3	6	0	0			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:281495C>T	ENST00000312165.5	+	4	1761	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	NLRP6_ENST00000534750.1_Silent_p.P587P	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	587					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)		AGGGCTGCCCCGGAGTGGCAC	0.662																																					p.P587P													.	.			0			c.C1761T												30	36	34					11																	281495		2203	4300	6503	SO:0001819	synonymous_variant	171389	exon4			CTGCCCCGGAGTG	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.1761C>T	11.37:g.281495C>T			51	0	0		50	0.24	12	NM_138329	0		0	A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	CCDS7693.1																																																																																					0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239283.1		NM_138329		T	281495	C	T	281495	2	4	64	1	0	0	0	0	0	0	0	1	10498	639	23	1		1	NLRP6	11	281495	Silent	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10		281495	134725021	38	4594											
MUC6	4588	bcgsc.ca	37	chr11	1016801	1016801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgggaagtgtggtctgaggGtgtgatggggttggataggt	6	12	22	1	0	1	2	0	2	1	0	1	4	1	4	0	7	0	1	0	7	2	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:1016801G>C	ENST00000421673.2	-	31	6050	c.6000C>G	c.(5998-6000)caC>caG	p.H2000Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2000	Thr-rich.				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)		TGGTCTGAGGGTGTGATGGGG	0.542																																					p.H2000Q													.	MUC6	408		0			c.C6000G												1371	1357	1362					11																	1016801		2203	4297	6500	SO:0001583	missense	4588	exon31			CTGAGGGTGTGAT	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.6000C>G	11.37:g.1016801G>C	ENSP00000406861:p.His2000Gln		405	0.0197530864	8		390	0.04	16	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524518	0.13066	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.76	-5.51	0.02568	.	.	.	.	.	T	0.10337	0.0253	L	0.50333	1.59	0.09310	N	1	B	0.27625	0.183	B	0.21708	0.036	T	0.29610	-1.0006	9	0.27082	T	0.32	.	1.062	0.01603	0.2629:0.2888:0.3017:0.1467	.	2000	Q6W4X9	MUC6_HUMAN	Q	2000	ENSP00000406861:H2000Q	ENSP00000406861:H2000Q	H	-	3	2	MUC6	1006801	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.904000	0.04080	-1.588000	0.01627	0.306000	0.20318	CAC			0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		C	1016801	G	C	1016801	3	2	64	1	0	0	0	0	1	0	0	0	9996	1252	44	5	1331	5	MUC6	11	1016801	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	735306	1016801	133989715	39	4595											
MUC2	4583	mdanderson.org	37	chr11	1093434	1093434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccatcaccaccaccacCacggtgaccccaaccccgac	12	2	4	23	2	1	1	1	1	0	0	1	2	1	1	9	1	1	0	9	1	1	0	rs12786901		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:1093434C>T	ENST00000441003.2	+	30	5280	c.5253C>T	c.(5251-5253)acC>acT	p.T1751T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1718T|MUC2_ENST00000333592.6_Silent_p.T39T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)	ccaccaccaccacggtgaccc	0.642																																					p.T1751T													.	.			0			c.C5253T							T		10,4082		0,10,2036	196	223	214		5250	-3.5	0	11	dbSNP_121	214	15,8043		0,15,4014	no	coding-synonymous	MUC2	NM_002457.2		0,25,6050	TT,TC,CC		0.1862,0.2444,0.2058		1750/2813	1093434	25,12125	2046	4029	6075	SO:0001819	synonymous_variant	4583	exon30			CACCACCACGGTG	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.5253C>T	11.37:g.1093434C>T			33	0.0303030303	1		26	0.19	5	NM_002457	0		0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1093434	C	T	1093434	2	4	64	1	0	0	0	0	0	0	0	1	9991	581	21	3		3	MUC2	11	1093434	Silent	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	76633	1093434	133913082	40	4596											
FOLH1	2346	bcgsc.ca	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				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)	GCCTATAAGCATATTCTGAAA	0.343																																					p.Y277Y													.	FOLH1	141		0			c.T831C												61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346	exon7			ATAAGCATATTCT	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.831T>C	11.37:g.49204790A>G			110	0	0		137	0.09	12	NM_004476	0		0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																					0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390896.1		NM_004476		G	49204790	A	G	49204790	2	3	64	1	0	0	0	0	0	0	0	1	5992	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	48111356	49204790	85801726	41	4597											
LTBP3	4054	mdanderson.org	37	chr11	65306612	65306612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgcgaagccggctttgCagacgcagcggaaggagccg	8	4	17	12	7	0	1	0	0	0	1	0	4	0	3	2	3	5	3	2	3	2	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:65306612C>T	ENST00000301873.5	-	28	4119	c.3851G>A	c.(3850-3852)tGc>tAc	p.C1284Y	LTBP3_ENST00000322147.4_Missense_Mutation_p.C1237Y|LTBP3_ENST00000530785.1_Missense_Mutation_p.C287Y|LTBP3_ENST00000532932.1_Missense_Mutation_p.C714Y|LTBP3_ENST00000536982.1_Missense_Mutation_p.C863Y|LTBP3_ENST00000529189.1_Missense_Mutation_p.C240Y	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1284	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						GCCGGCTTTGCAGACGCAGCG	0.706																																					p.C1284Y													.	.			0			c.G3851A												3	3	3					11																	65306612		1830	3531	5361	SO:0001583	missense	4054	exon28			GCTTTGCAGACGC	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.3851G>A	11.37:g.65306612C>T	ENSP00000301873:p.Cys1284Tyr		19	0	0		11	0.27	3	NM_001130144	37	0	0	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673567	0.88445	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982	D;D;D;D;D;D	0.99319	-5.74;-5.74;-5.74;-5.74;-5.74;-5.74	4.86	3.94	0.45596	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99074	4.42	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.998	D	0.97670	1.0166	10	0.87932	D	0	.	11.1008	0.48172	0.0:0.9077:0.0:0.0923	.	863;1120;1284;1237;714;863	F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;LTBP3_HUMAN;.;.;.	Y	1237;1284;287;240;714;863	ENSP00000326647:C1237Y;ENSP00000301873:C1284Y;ENSP00000434315:C287Y;ENSP00000434406:C240Y;ENSP00000435530:C714Y;ENSP00000441912:C863Y	ENSP00000301873:C1284Y	C	-	2	0	LTBP3	65063188	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.648000	0.67930	1.026000	0.39733	0.561000	0.74099	TGC			0.706	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390538.1		NM_021070		T	65306612	C	T	65306612	3	4	64	1	0	0	0	0	1	0	0	0	9091	710	25	2	64	2	LTBP3	11	65306612	Missense_Mutation	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	16101822	65306612	69699904	42	4598											
TECTA	7007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	121028809	121028809	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgccagaaactgcccgAcatctccttccagcttatca	10	10	5	16	1	3	1	1	0	2	1	5	2	4	1	4	0	4	1	4	0	2	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:121028809A>G	ENST00000392793.1	+	14	4836	c.4565A>G	c.(4564-4566)gAc>gGc	p.D1522G	TECTA_ENST00000264037.2_Missense_Mutation_p.D1522G			O75443	TECTA_HUMAN	tectorin alpha	1522	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		AAACTGCCCGACATCTCCTTC	0.592																																					p.D1522G													.	.			0			c.A4565G												93	73	80					11																	121028809		2203	4299	6502	SO:0001583	missense	7007	exon13			TGCCCGACATCTC	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.4565A>G	11.37:g.121028809A>G	ENSP00000376543:p.Asp1522Gly		115	0	0		88	0.75	66	NM_005422	0		0		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463304	0.63513	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.61158	0.13;0.13	5.67	4.56	0.56223	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	N	0.25485	0.75	0.47778	D	0.999515	D	0.67145	0.996	D	0.65773	0.938	T	0.56232	-0.8013	10	0.31617	T	0.26	.	11.0748	0.48025	0.9278:0.0:0.0722:0.0	.	1522	O75443	TECTA_HUMAN	G	1522	ENSP00000376543:D1522G;ENSP00000264037:D1522G	ENSP00000264037:D1522G	D	+	2	0	TECTA	120534019	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.112000	0.77086	2.169000	0.68431	0.460000	0.39030	GAC			0.592	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313850.1		NM_005422		G	121028809	A	G	121028809	3	3	64	1	0	0	0	0	1	0	0	0	15770	275	10	4	4615	4	TECTA	11	121028809	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	55722197	121028809	13977707	43	4599											
ERC1	23085	broad.mit.edu	37	chr12	1292505	1292505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatcctcaggactgaaaaAggactcacggcttaagacac	14	6	10	11	1	2	2	2	1	0	1	3	4	3	4	1	4	0	2	1	4	3	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr12:1292505A>G	ENST00000397203.2	+	11	2481	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R	ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.K692R|ERC1_ENST00000589028.1_Missense_Mutation_p.K692R|ERC1_ENST00000546231.2_Missense_Mutation_p.K692R|ERC1_ENST00000360905.4_Missense_Mutation_p.K692R|ERC1_ENST00000543086.3_Missense_Mutation_p.K664R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	692					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)			GGACTGAAAAAGGACTCACGG	0.363																																					p.K692R													.	ERC1	95		0			c.A2075G												89	88	89					12																	1292505		2203	4300	6503	SO:0001583	missense	23085	exon11			TGAAAAAGGACTC	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.2075A>G	12.37:g.1292505A>G	ENSP00000380386:p.Lys692Arg		314	0	0		731	0.01	7	NM_178040	2	0	0	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455744	0.26161	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	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	5.37	5.37	0.77165	.	0.093551	0.64402	D	0.000001	T	0.35595	0.0937	L	0.42686	1.345	0.80722	D	1	B;B;B;B;B	0.16166	0.002;0.016;0.003;0.003;0.001	B;B;B;B;B	0.19666	0.011;0.026;0.008;0.008;0.008	T	0.16041	-1.0416	10	0.11485	T	0.65	-32.4174	15.6887	0.77434	1.0:0.0:0.0:0.0	.	440;332;664;664;692	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	664;692;664;664;392;664;664;392;692;692;692;664;440;332	ENSP00000340054:K664R;ENSP00000380386:K692R;ENSP00000438546:K664R;ENSP00000442976:K392R;ENSP00000442739:K692R;ENSP00000347621:K692R;ENSP00000354158:K692R;ENSP00000410064:K664R	ENSP00000299183:K392R	K	+	2	0	ERC1	1162766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.281000	0.72632	2.170000	0.68504	0.460000	0.39030	AAG			0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064		G	1292505	A	G	1292505	3	3	64	1	0	0	0	0	1	0	0	0	5217	72	3	4	2113	4	ERC1	12	1292505	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10		1292505	132559390	44	4600											
DDX11	1663	broad.mit.edu	37	chr12	31238044	31238044	+	Frame_Shift_Del	DEL	A	A	-																															aatacgagagtgatgaggagAaaaaggtggcgagcaggtga																										TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr12:31238044delA	ENST00000407793.2	+	5	873	c.622delA	c.(622-624)aaafs	p.K209fs	DDX11_ENST00000251758.5_Frame_Shift_Del_p.K209fs|DDX11_ENST00000542838.1_Frame_Shift_Del_p.K209fs|DDX11_ENST00000228264.6_Frame_Shift_Del_p.K183fs|DDX11_ENST00000545668.1_Frame_Shift_Del_p.K209fs|DDX11_ENST00000350437.4_Frame_Shift_Del_p.K209fs	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	209	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGAGGAGAAAAAGGTGGC	0.617										Multiple Myeloma(12;0.14)																											p.K208fs													.	DDX11	188		0			c.622delA												31	31	31					12																	31238044		2194	4282	6476	SO:0001589	frameshift_variant	1663	exon5			GAGGAGAAAAAGG	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.622delA	12.37:g.31238044delA	ENSP00000384703:p.Lys209fs		319	0	0		634	0.01	8	NM_030653	16	0	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Del	DEL	ENST00000407793.2	37	CCDS44856.1																																																																																					0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653		-	31238044	A	-	31238044	7	5	64	1	0	1	0	1	0	0	0	0	4345	247	9	0	636	0	DDX11	12	31238044	Frame_Shift_Del	DEL	A	TCGA-2G-AALF-01A-11D-A42Y-10	29945539	31238044	102613851	45	4601											
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57600263	57600263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcttctccaggctctgaGtaccaggtcctgtacatcgc	6	12	9	14	1	2	1	0	1	2	0	5	1	3	1	3	2	3	4	3	2	2	4			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr12:57600263G>A	ENST00000243077.3	+	76	12064	c.11598G>A	c.(11596-11598)gaG>gaA	p.E3866E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3866					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)	CAGGCTCTGAGTACCAGGTCC	0.602																																					p.E3866E													.	.			0			c.G11598A												78	69	72					12																	57600263		2203	4300	6503	SO:0001819	synonymous_variant	4035	exon76			CTCTGAGTACCAG	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.11598G>A	12.37:g.57600263G>A			62	0	0		49	0.55	27	NM_002332	19	0.47	9	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																					0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412772.2		NM_002332		A	57600263	G	A	57600263	2	1	64	1	0	0	0	0	0	0	0	1	8967	1020	36	3		3	LRP1	12	57600263	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	26362219	57600263	76251632	46	4602											
C12orf51	283450	mdanderson.org	37	chr12	112601498	112601498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctgcagctcccgcagccGcaggctccggatggctgccg	5	7	13	16	4	1	0	0	0	1	0	3	1	3	1	4	3	4	6	4	3	0	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr12:112601498G>A	ENST00000430131.2	-	73	12624	c.11479C>T	c.(11479-11481)Cgg>Tgg	p.R3827W	HECTD4_ENST00000550722.1_Missense_Mutation_p.R4103W|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4077W|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3827	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)										TCCCGCAGCCGCAGGCTCCGG	0.677																																					p.R4115W													.	.			0			c.C12343T												5	9	7					12																	112601498		1491	2934	4425	SO:0001583	missense	283450	exon74			GCAGCCGCAGGCT	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.11479C>T	12.37:g.112601498G>A	ENSP00000404379:p.Arg3827Trp		46	0	0		47	0.06	3	NM_001109662	1	0	0	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	24.7	4.560929	0.86335	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.51071	0.72;0.72;0.72	5.73	4.79	0.61399	HECT (4);	.	.	.	.	T	0.73690	0.3619	M	0.89968	3.075	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	T	0.79536	-0.1763	9	0.87932	D	0	.	15.4476	0.75243	0.0:0.0:0.7852:0.2148	.	3827	Q9Y4D8	K0614_HUMAN	W	4077;3827;4103;292	ENSP00000366783:R4077W;ENSP00000404379:R3827W;ENSP00000449784:R4103W	ENSP00000366783:R4077W	R	-	1	2	C12orf51	111085881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.543000	0.53633	2.713000	0.92767	0.655000	0.94253	CGG			0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding				NM_173813		A	112601498	G	A	112601498	3	1	64	1	0	0	0	0	1	0	0	0	1698	1086	38	1	523	1	C12orf51	12	112601498	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	55001235	112601498	21250397	47	4603											
DCT	1638	ucsc.edu	37	chr13	95131234	95131234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtgcacttgcaggtccgGtggaagaattttcttggcca	7	12	12	10	1	1	1	0	0	1	1	2	2	2	2	3	4	2	2	3	4	2	4			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr13:95131234G>A	ENST00000377028.5	-	1	689	c.276C>T	c.(274-276)caC>caT	p.H92H	DCT_ENST00000446125.1_Silent_p.H92H	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	92					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)		TGCAGGTCCGGTGGAAGAATT	0.577																																					p.H92H													.	DCT	186		0			c.C276T												89	77	81					13																	95131234		2203	4300	6503	SO:0001819	synonymous_variant	1638	exon1			GGTCCGGTGGAAG	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.276C>T	13.37:g.95131234G>A			43	0	0		40	0.1	4	NM_001129889	0		0	Q09GT4	Silent	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																					0.577	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045461.3				A	95131234	G	A	95131234	2	1	64	1	0	0	0	0	0	0	0	1	4306	1252	44	3		3	DCT	13	95131234	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		95131234	20038644	48	4604											
KLF13	51621	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	31619961	31619961	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtttacgggaaatcttcGcacctcaaggcgcacctgag	12	8	10	11	3	2	1	1	1	1	0	3	2	2	2	2	2	1	3	2	2	4	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr15:31619961G>C	ENST00000307145.3	+	1	904	c.546G>C	c.(544-546)tcG>tcC	p.S182S		NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	182					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GGAAATCTTCGCACCTCAAGG	0.697																																					p.S182S													.	.			0			c.G546C												16	19	18					15																	31619961		2086	4221	6307	SO:0001819	synonymous_variant	51621	exon1			ATCTTCGCACCTC	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.546G>C	15.37:g.31619961G>C			80	0	0		66	0.26	17	NM_015995	2	0	0	Q9Y356	Silent	SNP	ENST00000307145.3	37	CCDS10025.1																																																																																					0.697	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251381.1		NM_015995		C	31619961	G	C	31619961	2	2	64	1	0	0	0	0	0	0	0	1	8356	1074	38	5		5	KLF13	15	31619961	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		31619961	70911431	49	4605											
CORO2B	10391	mdanderson.org	37	chr15	69011560	69011560	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccggatgaatggctgggAggcatcaaccgaggtaccac	11	5	13	12	2	1	1	1	1	0	0	1	4	1	3	4	5	2	3	4	5	3	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr15:69011560A>G	ENST00000566799.1	+	10	1187	c.1158A>G	c.(1156-1158)ggA>ggG	p.G386G	CORO2B_ENST00000543950.1_Silent_p.G381G|CORO2B_ENST00000540068.1_Silent_p.G381G|CORO2B_ENST00000261861.5_Silent_p.G381G			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	386					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AATGGCTGGGAGGCATCAACC	0.602																																					p.G386G													.	.			0			c.A1158G												73	72	73					15																	69011560		2200	4298	6498	SO:0001819	synonymous_variant	10391	exon10			GCTGGGAGGCATC	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1158A>G	15.37:g.69011560A>G			54	0	0		56	0.07	4	NM_006091	0		0	A8K0W3|O94767|Q8TAN1	Silent	SNP	ENST00000566799.1	37	CCDS10229.2																																																																																					0.602	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_006091		G	69011560	A	G	69011560	2	3	64	1	0	0	0	0	0	0	0	1	3759	291	11	4		4	CORO2B	15	69011560	Silent	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	37391599	69011560	33519832	50	4606											
IL16	3603	mdanderson.org	37	chr15	81598276	81598276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgtttccaaatgggctgGcctcccaggaagggactatt	9	10	13	9	0	0	0	0	0	0	0	2	3	2	2	3	4	0	2	3	4	3	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr15:81598276G>T	ENST00000302987.4	+	16	3448	c.3448G>T	c.(3448-3450)Gcc>Tcc	p.A1150S	IL16_ENST00000394660.2_Missense_Mutation_p.A1150S|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.A449S			Q14005	IL16_HUMAN	interleukin 16	1150	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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						AAATGGGCTGGCCTCCCAGGA	0.522																																					p.A1150S													.	.			0			c.G3448T												130	143	139					15																	81598276		2203	4300	6503	SO:0001583	missense	3603	exon17			GGGCTGGCCTCCC	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.3448G>T	15.37:g.81598276G>T	ENSP00000302935:p.Ala1150Ser		76	0	0		46	0.07	3	NM_001172128	22	0	0	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065035	0.55432	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.58506	0.33;0.33;0.33	4.64	4.64	0.57946	PDZ/DHR/GLGF (4);	0.000000	0.46442	D	0.000282	T	0.79661	0.4484	M	0.93016	3.37	0.80722	D	1	P;D;D;D;D;D	0.76494	0.922;0.985;0.999;0.993;0.993;0.995	D;D;D;D;D;D	0.87578	0.975;0.988;0.961;0.998;0.997;0.996	D	0.83611	0.0134	10	0.72032	D	0.01	.	11.2172	0.48833	0.0839:0.0:0.9161:0.0	.	982;643;687;540;1150;1150	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	S	1150;982;1150;687;540;449;449	ENSP00000378155:A1150S;ENSP00000302935:A1150S;ENSP00000378147:A449S	ENSP00000302935:A1150S	A	+	1	0	IL16	79385331	1.000000	0.71417	0.899000	0.35326	0.060000	0.15804	7.078000	0.76821	2.386000	0.81285	0.655000	0.94253	GCC			0.522	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000303952.1		NM_172217		T	81598276	G	T	81598276	3	4	64	1	0	0	0	0	1	0	0	0	7648	1203	42	2	3510	2	IL16	15	81598276	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	12586716	81598276	20933116	51	4607											
SEMA4B	10509	hgsc.bcm.edu	37	chr15	90764683	90764683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaagccttcgccccaccaAgaccgagagctccctcaact	11	5	6	19	2	1	2	1	0	0	2	3	3	2	2	7	0	3	1	7	0	3	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr15:90764683A>G	ENST00000411539.2	+	6	940	c.680A>G	c.(679-681)aAg>aGg	p.K227R	SEMA4B_ENST00000379122.3_Missense_Mutation_p.K222R|SEMA4B_ENST00000332496.6_Missense_Mutation_p.K227R	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	222	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)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CGCCCCACCAAGACCGAGAGC	0.592											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K227R													.	.			0			c.A680G												26	29	28					15																	90764683		1989	4162	6151	SO:0001583	missense	10509	exon7			CCACCAAGACCGA	AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.680A>G	15.37:g.90764683A>G	ENSP00000394720:p.Lys227Arg		140	0	0	1277	95	0.04	4	NM_020210	6	0	0	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702901	0.68501	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.08896	3.04;3.04;3.04	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.247922	0.40728	N	0.001024	T	0.08891	0.0220	N	0.25201	0.72	0.80722	D	1	P;P	0.50710	0.938;0.938	P;P	0.50825	0.651;0.557	T	0.08106	-1.0738	10	0.02654	T	1	.	14.67	0.68937	1.0:0.0:0.0:0.0	.	227;222	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	R	227;222;227	ENSP00000332204:K227R;ENSP00000368417:K222R;ENSP00000394720:K227R	ENSP00000332204:K227R	K	+	2	0	SEMA4B	88565687	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.210000	0.95106	2.200000	0.70718	0.460000	0.39030	AAG			0.592	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416810.1		NM_198925		G	90764683	A	G	90764683	3	3	64	1	0	0	0	0	1	0	0	0	14055	72	3	4	702	4	SEMA4B	15	90764683	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	9166407	90764683	11766709	52	4608											
PAQR4	124222	mdanderson.org	37	chr16	3021898	3021898	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcagctgcacgccggCgtcgtgcccgacctgctctg	4	8	12	17	5	1	0	0	0	1	0	3	1	2	0	4	1	5	4	4	1	0	0			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr16:3021898C>T	ENST00000318782.8	+	3	1201	c.771C>T	c.(769-771)ggC>ggT	p.G257G	PAQR4_ENST00000574988.1_Silent_p.G190G|PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Silent_p.G183G|PAQR4_ENST00000576565.1_Silent_p.G190G|PAQR4_ENST00000293978.8_Silent_p.G218G	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	257						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						TGCACGCCGGCGTCGTGCCCG	0.672																																					p.G257G													PAQR4,bladder,carcinoma,0,1	PAQR4	0	1	0			c.C771T												28	30	29					16																	3021898		2198	4297	6495	SO:0001819	synonymous_variant	124222	exon3			CGCCGGCGTCGTG		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.771C>T	16.37:g.3021898C>T			23	0	0		35	0.09	3	NM_152341	21	0	0	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	CCDS10485.1																																																																																					0.672	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250966.1		NM_152341		T	3021898	C	T	3021898	2	4	64	1	0	0	0	0	0	0	0	1	11454	755	27	1		1	PAQR4	16	3021898	Silent	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10		3021898	87332855	53	4609											
MC1R	4157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	89985992	89985992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccggtgcactggtggcccGggctgcggtgctgcagcagc	3	6	19	13	3	0	0	0	0	0	0	0	0	0	0	2	6	6	5	2	6	0	0			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr16:89985992G>A	ENST00000555147.1	+	1	1706	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Missense_Mutation_p.R109Q|RP11-566K11.4_ENST00000554623.1_RNA|TUBB3_ENST00000554444.1_5'Flank|MC1R_ENST00000555427.1_Missense_Mutation_p.R109Q	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	109					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTGGTGGCCCGGGCTGCGGTG	0.657									Melanoma, Familial Clustering of																												p.R109Q													.	.			0			c.G326A												44	53	50					16																	89985992		2187	4295	6482	SO:0001583	missense	4157	exon1	Familial Cancer Database		TGGCCCGGGCTGC		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.326G>A	16.37:g.89985992G>A	ENSP00000451605:p.Arg109Gln		58	0	0		51	0.2	10	NM_002386	5	0.4	2	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	G	5.591	0.293763	0.10567	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.72394	-0.65;-0.65;-0.65	4.84	-7.71	0.01254	GPCR, rhodopsin-like superfamily (1);	0.843546	0.09669	N	0.771448	T	0.42966	0.1226	N	0.12637	0.245	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.30563	-0.9974	9	.	.	.	.	8.9505	0.35785	0.627:0.1051:0.2678:0.0	.	109	Q01726	MSHR_HUMAN	Q	109	ENSP00000451760:R109Q;ENSP00000451560:R109Q;ENSP00000451605:R109Q	.	R	+	2	0	MC1R;RP11-566K11.2	88513493	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.988000	0.01482	-1.363000	0.02164	-0.391000	0.06502	CGG			0.657	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412014.1		NM_002386		A	89985992	G	A	89985992	3	1	64	1	0	0	0	0	1	0	0	0	9379	1116	39	1	328	1	MC1R	16	89985992	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	86964094	89985992	368761	54	4610											
DBNDD1	79007	mdanderson.org	37	chr16	90075813	90075813	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacgcccagcgcagcctgCggcacctcagcctccttaac	7	5	11	18	3	1	0	1	0	0	0	2	1	2	1	5	2	5	2	5	2	1	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr16:90075813C>T	ENST00000002501.6	-	2	188	c.57G>A	c.(55-57)ccG>ccA	p.P19P	DBNDD1_ENST00000568838.1_Silent_p.P139P|DBNDD1_ENST00000392973.3_Silent_p.P25P|DBNDD1_ENST00000304733.3_Silent_p.P39P	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	19						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		GCGCAGCCTGCGGCACCTCAG	0.667																																					p.P39P													DBNDD1,rectum,carcinoma,-2,1	DBNDD1	-2	1	0			c.G117A												79	93	88					16																	90075813		2069	4205	6274	SO:0001819	synonymous_variant	79007	exon2			AGCCTGCGGCACC	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.57G>A	16.37:g.90075813C>T			43	0	0		22	0.14	3	NM_024043	8	0	0	B4DQS3|Q69YT2|Q9BW25	Silent	SNP	ENST00000002501.6	37	CCDS42223.1																																																																																					0.667	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272872.1		NM_024043		T	90075813	C	T	90075813	2	4	64	1	0	0	0	0	0	0	0	1	4255	755	27	1		1	DBNDD1	16	90075813	Silent	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	89821	90075813	278940	55	4611											
PEMT	10400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	17480330	17480330	+	5'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagccgggtcataacGcagaagtctgcctgcaggga	10	5	13	13	2	2	1	1	0	1	1	2	2	2	2	3	2	5	3	3	2	2	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:17480330G>A	ENST00000395783.1	-	0	176				PEMT_ENST00000395782.1_5'UTR|PEMT_ENST00000395781.2_Silent_p.C36C|RNU6-468P_ENST00000384003.1_RNA|PEMT_ENST00000435340.2_Silent_p.C14C|PEMT_ENST00000255389.5_Silent_p.C36C	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase						cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GGGTCATAACGCAGAAGTCTG	0.582																																					p.C36C													.	.			0			c.C108T												106	86	93					17																	17480330		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10400	exon2			CATAACGCAGAAG	AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.-4C>T	17.37:g.17480330G>A			52	0	0		52	0.31	16	NM_001267552	81	0.51	41	A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Silent	SNP	ENST00000395783.1	37	CCDS11187.1																																																																																					0.582	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131657.1		NM_007169		A	17480330	G	A	17480330	1	1	64	0	1	0	0	0	0	0	0	0	11743	1079	38	1		1	PEMT	17	17480330	5'UTR	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		17480330	63714880	56	4612											
SLC47A2	146802	mdanderson.org	37	chr17	19610016	19610016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacacagatcatgagcatGctggggacagccagggagaa	14	5	13	9	0	2	3	2	1	0	2	2	5	2	4	1	3	4	2	1	3	2	0	rs199838072		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:19610016G>T	ENST00000325411.5	-	9	944	c.894C>A	c.(892-894)agC>agA	p.S298R	SLC47A2_ENST00000350657.5_Missense_Mutation_p.S262R|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	298					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TCATGAGCATGCTGGGGACAG	0.622																																					p.S298R													.	.			0			c.C894A												102	90	94					17																	19610016		2203	4300	6503	SO:0001583	missense	146802	exon9			GAGCATGCTGGGG	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.894C>A	17.37:g.19610016G>T	ENSP00000326671:p.Ser298Arg		40	0	0		36	0.08	3	NM_152908	0		0	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540099	0.45176	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.32988	1.43;1.43;1.43	5.36	4.38	0.52667	.	0.081170	0.85682	D	0.000000	T	0.63850	0.2546	H	0.96301	3.8	0.48341	D	0.999631	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	T	0.70000	-0.4992	10	0.87932	D	0	-27.8732	7.2143	0.25951	0.0859:0.0:0.743:0.1711	.	262;262;298	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	R	262;298;213;262	ENSP00000338084:S262R;ENSP00000326671:S298R;ENSP00000391848:S262R	ENSP00000326671:S298R	S	-	3	2	SLC47A2	19550608	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	2.638000	0.46562	1.379000	0.46325	0.462000	0.41574	AGC			0.622	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000132242.2		NM_152908		T	19610016	G	T	19610016	3	4	64	1	0	0	0	0	1	0	0	0	14671	1310	46	2	950	2	SLC47A2	17	19610016	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	2129686	19610016	61585194	57	4613											
SLC47A2	146802	mdanderson.org	37	chr17	19618516	19618516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtagatcataaaagtcagCacctggaacaggaactggag	16	7	11	7	0	2	1	2	0	0	1	2	4	2	4	1	3	3	2	1	3	5	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:19618516C>T	ENST00000325411.5	-	2	188	c.138G>A	c.(136-138)gtG>gtA	p.V46V	SLC47A2_ENST00000350657.5_Silent_p.V46V|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	46					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TAAAAGTCAGCACCTGGAACA	0.627																																					p.V46V													.	.			0			c.G138A												68	67	67					17																	19618516		2203	4300	6503	SO:0001819	synonymous_variant	146802	exon2			AGTCAGCACCTGG	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.138G>A	17.37:g.19618516C>T			21	0	0		25	0.12	3	NM_001099646	0		0	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	CCDS11211.1																																																																																					0.627	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000132242.2		NM_152908		T	19618516	C	T	19618516	2	4	64	1	0	0	0	0	0	0	0	1	14671	697	25	2		2	SLC47A2	17	19618516	Silent	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	8500	19618516	61576694	58	4614											
ATAD5	79915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29164229	29164229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatttttatttcagaatgaAattcaccagaattagtactc	14	17	4	6	0	2	3	2	1	0	2	3	3	2	3	1	0	1	1	1	0	7	8			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:29164229A>C	ENST00000321990.4	+	3	2351	c.1973A>C	c.(1972-1974)aAa>aCa	p.K658T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	658					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)				TTCAGAATGAAATTCACCAGA	0.294																																					p.K658T													.	.			0			c.A1973C												23	24	24					17																	29164229		2184	4268	6452	SO:0001583	missense	79915	exon3			GAATGAAATTCAC		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.1973A>C	17.37:g.29164229A>C	ENSP00000313171:p.Lys658Thr		248	0	0		435	0.21	90	NM_024857	0		0	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674959	0.29783	.	.	ENSG00000176208	ENST00000321990	T	0.15834	2.39	5.64	4.57	0.56435	.	0.262277	0.42821	D	0.000659	T	0.34832	0.0911	M	0.61703	1.905	0.28161	N	0.928993	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.942	T	0.16158	-1.0412	10	0.72032	D	0.01	.	8.4821	0.33049	0.9121:0.0:0.0879:0.0	.	658;658	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	T	658	ENSP00000313171:K658T	ENSP00000313171:K658T	K	+	2	0	ATAD5	26188355	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.095000	0.57728	1.084000	0.41184	0.459000	0.35465	AAA			0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256206.2		NM_024857		C	29164229	A	C	29164229	3	2	64	1	0	0	0	0	1	0	0	0	1076	14	1	4	1983	4	ATAD5	17	29164229	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	9545713	29164229	52030981	59	4615											
KRTAP4-8	728224	hgsc.bcm.edu;mdanderson.org	37	chr17	39254149	39254149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagctggggcgacagcagGtgggctggcagcacacagac	10	3	17	11	1	0	1	0	0	0	1	0	2	0	1	0	5	4	6	0	5	0	0	rs201246375		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:39254149G>C	ENST00000333822.4	-	1	244	c.188C>G	c.(187-189)aCc>aGc	p.T63S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	63	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCGACAGCAGGTGGGCTGGCA	0.652																																					p.T63S													.	.			0			c.C188G												7	10	9					17																	39254149		651	1515	2166	SO:0001583	missense	728224	exon1			CAGCAGGTGGGCT	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.188C>G	17.37:g.39254149G>C	ENSP00000328444:p.Thr63Ser		18	0	0		18	0.22	4	NM_031960	0		0	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153662	0.06585	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01215	5.16	3.11	-1.04	0.10068	.	1.573260	0.03861	N	0.273912	T	0.00724	0.0024	N	0.10809	0.05	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43637	-0.9379	10	0.05721	T	0.95	.	4.7356	0.12986	0.2319:0.434:0.3341:0.0	.	63	Q9BYQ9	KRA48_HUMAN	S	63	ENSP00000328444:T63S	ENSP00000414561:T63S	T	-	2	0	KRTAP4-8	36507675	0.000000	0.05858	0.109000	0.21407	0.234000	0.25298	-2.396000	0.01052	-0.528000	0.06366	0.449000	0.29647	ACC			0.652	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257684.1		NM_031960		C	39254149	G	C	39254149	3	2	64	1	0	0	0	0	1	0	0	0	8571	1261	44	5	373	5	KRTAP4-8	17	39254149	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	10089920	39254149	41941061	60	4616											
LRRC46	90506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	45914165	45914165	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaggcacagggagcaccgGcaacagacggccctgacaga	13	1	14	13	2	0	3	0	1	0	2	0	4	0	4	2	4	3	4	2	4	1	0			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:45914165G>A	ENST00000269025.4	+	8	1008	c.645G>A	c.(643-645)cgG>cgA	p.R215R		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	215										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGAGCACCGGCAACAGACGG	0.682																																					p.R215R													.	.			0			c.G645A												39	43	42					17																	45914165		2203	4300	6503	SO:0001819	synonymous_variant	90506	exon8			GCACCGGCAACAG		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.645G>A	17.37:g.45914165G>A			67	0	0		80	0.3	24	NM_033413	4	0.5	2	A8K9Q0	Silent	SNP	ENST00000269025.4	37	CCDS11518.1																																																																																					0.682	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441377.1		NM_033413		A	45914165	G	A	45914165	2	1	64	1	0	0	0	0	0	0	0	1	9019	1190	42	2		2	LRRC46	17	45914165	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	6660016	45914165	35281045	61	4617											
TNRC6C	57690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	76075489	76075489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgcagataccgagtggcaAtctgggtatgtttggcaata	10	12	13	6	1	1	1	0	0	1	1	1	2	1	1	1	3	2	5	1	3	5	4			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:76075489A>G	ENST00000588061.1	+	12	3951	c.3224A>G	c.(3223-3225)aAt>aGt	p.N1075S	TNRC6C_ENST00000544502.1_Missense_Mutation_p.N1072S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.N1075S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.N1075S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.N1072S|TNRC6C_ENST00000335749.4_Missense_Mutation_p.N1072S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1075					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCGAGTGGCAATCTGGGTATG	0.502																																					p.N1075S													.	.			0			c.A3224G												108	112	110					17																	76075489		2131	4256	6387	SO:0001583	missense	57690	exon11			GTGGCAATCTGGG	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3224A>G	17.37:g.76075489A>G	ENSP00000468647:p.Asn1075Ser		70	0	0		94	0.26	24	NM_018996	0		0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572916	0.45798	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.08	1.44	0.22558	.	0.364478	0.34223	N	0.004152	T	0.10551	0.0258	L	0.39245	1.2	0.35513	D	0.800815	B;B	0.12630	0.006;0.006	B;B	0.20384	0.02;0.029	T	0.33163	-0.9879	10	0.07175	T	0.84	-2.8293	6.4052	0.21660	0.6788:0.1284:0.1929:0.0	.	1072;1075	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	S	1075;1072;1072;1075;1075;1072	ENSP00000336783:N1072S;ENSP00000301624:N1075S;ENSP00000440310:N1075S;ENSP00000442421:N1072S	ENSP00000301624:N1075S	N	+	2	0	TNRC6C	73587084	.	.	0.998000	0.56505	0.992000	0.81027	.	.	-0.032000	0.13758	0.533000	0.62120	AAT			0.502	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000395947.1		NM_018996		G	76075489	A	G	76075489	3	3	64	1	0	0	0	0	1	0	0	0	16365	101	4	4	3254	4	TNRC6C	17	76075489	Missense_Mutation	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	30161324	76075489	5119721	62	4618											
RNF213	57674	mdanderson.org	37	chr17	78360657	78360657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcggcagatcgtcagccGcttcctccagggcaagcccc	7	6	11	17	3	2	1	2	0	0	1	5	1	4	1	5	2	3	3	5	2	1	1			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:78360657G>T	ENST00000582970.1	+	63	15031	c.14888G>T	c.(14887-14889)cGc>cTc	p.R4963L	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.R3036L|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R5012L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4963					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)			ATCGTCAGCCGCTTCCTCCAG	0.582																																					p.R4963L													.	.			0			c.G14888T												33	30	31					17																	78360657		2203	4300	6503	SO:0001583	missense	57674	exon63			TCAGCCGCTTCCT	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.14888G>T	17.37:g.78360657G>T	ENSP00000464087:p.Arg4963Leu		56	0	0		40	0.08	3	NM_001256071	24	0	0	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346338	0.82022	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.34072	1.38	5.04	5.04	0.67666	.	0.150970	0.43260	D	0.000594	T	0.61236	0.2331	M	0.84846	2.72	0.38636	D	0.951496	D	0.76494	0.999	D	0.66716	0.946	T	0.70245	-0.4925	10	0.87932	D	0	.	12.2808	0.54762	0.0893:0.0:0.9107:0.0	.	3036	Q63HN8	RN213_HUMAN	L	4963;5012;3036;313	ENSP00000338218:R3036L	ENSP00000338218:R3036L	R	+	2	0	RNF213	75975252	1.000000	0.71417	0.980000	0.43619	0.734000	0.41952	5.162000	0.64942	2.353000	0.79882	0.561000	0.74099	CGC			0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000443298.1		NM_020914		T	78360657	G	T	78360657	3	4	64	1	0	0	0	0	1	0	0	0	13500	1087	38	1	15453	1	RNF213	17	78360657	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	2285168	78360657	2834553	63	4619											
ABCA7	10347	mdanderson.org	37	chr19	1062286	1062286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcttgcgcgcctgcgcGgtgtcccggaggcccaggtt	3	8	16	14	5	0	0	0	0	0	0	1	1	1	1	3	4	4	3	3	4	0	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:1062286G>T	ENST00000263094.6	+	42	5917	c.5686G>T	c.(5686-5688)Ggt>Tgt	p.G1896C	ABCA7_ENST00000435683.2_Missense_Mutation_p.G1758C|ABCA7_ENST00000433129.1_Missense_Mutation_p.G1896C	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1896	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCTGCGCGGTGTCCCGGA	0.677																																					p.G1896C													ABCA7,NS,carcinoma,0,1	ABCA7	0	1	0			c.G5686T												82	90	87					19																	1062286		2203	4296	6499	SO:0001583	missense	10347	exon42			CTGCGCGGTGTCC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5686G>T	19.37:g.1062286G>T	ENSP00000263094:p.Gly1896Cys		31	0	0		29	0.1	3	NM_019112	46	0	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816112	0.50527	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97016	-4.21;-4.21	3.61	2.55	0.30701	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.98770	0.9586	H	0.98951	4.38	0.49582	D	0.9998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.989	D	0.98290	1.0513	9	0.87932	D	0	.	11.1274	0.48325	0.0:0.0:0.8143:0.1857	.	1021;1896	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	C	1896	ENSP00000263094:G1896C;ENSP00000414062:G1896C	ENSP00000263094:G1896C	G	+	1	0	ABCA7	1013286	1.000000	0.71417	0.019000	0.16419	0.327000	0.28475	7.306000	0.78905	0.717000	0.32145	0.555000	0.69702	GGT			0.677	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000394993.1		NM_019112		T	1062286	G	T	1062286	3	4	64	1	0	0	0	0	1	0	0	0	37	1116	39	1	5848	1	ABCA7	19	1062286	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		1062286	58066697	64	4620											
ICAM3	3385	mdanderson.org	37	chr19	10450225	10450225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtctcacctggggtcagCagacagcagaccagcagagt	10	6	13	12	0	2	3	2	0	1	3	3	3	2	3	2	3	3	3	2	3	0	0			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:10450225C>T	ENST00000160262.5	-	1	274	c.66G>A	c.(64-66)ctG>ctA	p.L22L	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	22					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)			CTGGGGTCAGCAGACAGCAGA	0.597																																					p.L22L													.	.			0			c.G66A												52	49	50					19																	10450225		2203	4300	6503	SO:0001819	synonymous_variant	3385	exon1			GGTCAGCAGACAG		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.66G>A	19.37:g.10450225C>T			42	0	0		38	0.08	3	NM_002162	16	0	0	Q6PD68	Silent	SNP	ENST00000160262.5	37	CCDS12235.1																																																																																					0.597	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451234.1				T	10450225	C	T	10450225	2	4	64	1	0	0	0	0	0	0	0	1	7496	697	25	2		2	ICAM3	19	10450225	Silent	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	9387939	10450225	48678758	65	4621											
TYK2	7297	bcgsc.ca	37	chr19	10464862	10464862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaccatctcgccagtgcCgtcgttggtcggatcgtagc	5	9	12	15	6	1	0	0	0	1	0	5	1	1	1	4	2	2	2	4	2	1	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:10464862C>T	ENST00000525621.1	-	20	3245	c.2764G>A	c.(2764-2766)Ggc>Agc	p.G922S	TYK2_ENST00000524462.1_Missense_Mutation_p.G737S|TYK2_ENST00000529422.1_5'Flank|TYK2_ENST00000264818.6_Missense_Mutation_p.G922S	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	922	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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 tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGCCAGTGCCGTCGTTGGTC	0.632																																					p.G922S													.	TYK2	126		0			c.G2764A												123	106	112					19																	10464862		2203	4300	6503	SO:0001583	missense	7297	exon20			CAGTGCCGTCGTT		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2764G>A	19.37:g.10464862C>T	ENSP00000431885:p.Gly922Ser		58	0	0		58	0.07	4	NM_003331	56	0	0	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929129	0.92389	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.81996	-1.56;-1.56;-1.56	5.61	2.37	0.29283	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000047	T	0.79678	0.4487	N	0.13299	0.325	0.58432	D	0.999999	D	0.71674	0.998	D	0.65773	0.938	T	0.77286	-0.2644	10	0.44086	T	0.13	-38.9428	8.7143	0.34401	0.0:0.7518:0.0:0.2482	.	922	P29597	TYK2_HUMAN	S	737;922;922;669	ENSP00000433203:G737S;ENSP00000431885:G922S;ENSP00000264818:G922S	ENSP00000264818:G922S	G	-	1	0	TYK2	10325862	0.236000	0.23804	0.974000	0.42286	0.997000	0.91878	0.850000	0.27737	0.745000	0.32763	0.655000	0.94253	GGC			0.632	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389443.1				T	10464862	C	T	10464862	3	4	64	1	0	0	0	0	1	0	0	0	16834	652	23	1	823	1	TYK2	19	10464862	Missense_Mutation	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	14637	10464862	48664121	66	4622											
NUDT19	390916	broad.mit.edu;mdanderson.org	37	chr19	33183483	33183483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcacccctttcttgcGgggcaccactcgccgctttg	3	11	10	17	3	2	0	1	0	1	0	3	0	2	0	4	3	1	3	4	3	0	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:33183483G>T	ENST00000397061.3	+	1	617	c.617G>T	c.(616-618)cGg>cTg	p.R206L	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	206	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CCTTTCTTGCGGGGCACCACT	0.687																																					p.R206L													.	NUDT19	15		0			c.G617T												13	15	14					19																	33183483		1986	4150	6136	SO:0001583	missense	390916	exon1			TCTTGCGGGGCAC		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.617G>T	19.37:g.33183483G>T	ENSP00000380251:p.Arg206Leu		49	0	0		52	0.06	3	NM_001105570	0		0		Missense_Mutation	SNP	ENST00000397061.3	37	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	g	14.28	2.487037	0.44249	.	.	ENSG00000213965	ENST00000397061	T	0.21361	2.01	4.79	-6.02	0.02192	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	1.373060	0.05371	U	0.535512	T	0.13543	0.0328	L	0.33753	1.03	0.09310	N	1	P	0.38597	0.639	B	0.33750	0.169	T	0.25676	-1.0125	10	0.30078	T	0.28	-0.2992	11.1937	0.48700	0.1358:0.5655:0.2987:0.0	.	206	A8MXV4	NUD19_HUMAN	L	206	ENSP00000380251:R206L	ENSP00000380251:R206L	R	+	2	0	NUDT19	37875323	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.592000	0.05747	-0.908000	0.03857	-1.518000	0.00936	CGG			0.687	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000450338.3		XM_372723		T	33183483	G	T	33183483	3	4	64	1	0	0	0	0	1	0	0	0	10753	1116	39	1	619	1	NUDT19	19	33183483	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	22718621	33183483	25945500	67	4623											
TEAD2	8463	mdanderson.org	37	chr19	49844664	49844664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacataggcggtgcagagcaGcagttcctgggtgtctctgt	7	10	15	9	1	1	1	0	0	1	1	3	2	2	1	1	3	3	4	1	3	1	2			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:49844664G>T	ENST00000311227.2	-	12	1351	c.1261C>A	c.(1261-1263)Ctg>Atg	p.L421M	TEAD2_ENST00000593945.1_Missense_Mutation_p.L425M|TEAD2_ENST00000377214.4_Missense_Mutation_p.L424M|CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000598810.1_Missense_Mutation_p.L425M|TEAD2_ENST00000539846.1_Missense_Mutation_p.L293M|TEAD2_ENST00000601519.1_Missense_Mutation_p.L424M	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	421	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GTGCAGAGCAGCAGTTCCTGG	0.612																																					p.L425M													.	.			0			c.C1273A												78	66	70					19																	49844664		2203	4300	6503	SO:0001583	missense	8463	exon13			AGAGCAGCAGTTC	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1261C>A	19.37:g.49844664G>T	ENSP00000310701:p.Leu421Met		38	0	0		41	0.07	3	NM_001256661	103	0	0	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857811	0.51376	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.39056	1.1;1.1;1.1	4.27	3.23	0.37069	.	0.000000	0.47455	D	0.000225	T	0.63177	0.2489	M	0.80616	2.505	0.52501	D	0.999954	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.999	T	0.67114	-0.5752	10	0.87932	D	0	-13.6598	10.6368	0.45569	0.0989:0.0:0.9011:0.0	.	293;421;424	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	M	421;424;293	ENSP00000310701:L421M;ENSP00000366419:L424M;ENSP00000437928:L293M	ENSP00000310701:L421M	L	-	1	2	TEAD2	54536476	0.983000	0.35010	0.998000	0.56505	0.391000	0.30476	1.823000	0.39062	1.098000	0.41479	0.650000	0.86243	CTG			0.612	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000465465.1		NM_003598		T	49844664	G	T	49844664	3	4	64	1	0	0	0	0	1	0	0	0	15762	962	34	2	86	2	TEAD2	19	49844664	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10	16661181	49844664	9284319	68	4624											
YTHDF1	54915	hgsc.bcm.edu	37	chr20	61833918	61833918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaccccggcactggtgccGtagtccacgggggacttcat	7	7	13	14	3	1	1	1	0	0	1	2	2	2	2	4	4	1	2	4	4	1	2	rs368566767		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr20:61833918G>A	ENST00000370339.3	-	4	1715	c.1374C>T	c.(1372-1374)taC>taT	p.Y458Y	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.Y408Y	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	458	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CACTGGTGCCGTAGTCCACGG	0.567																																					p.Y458Y													.	.			0			c.C1374T							G		0,4406		0,0,2203	83	84	84		1374	-1.1	1	20		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	YTHDF1	NM_017798.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		458/560	61833918	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54915	exon4			GGTGCCGTAGTCC	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1374C>T	20.37:g.61833918G>A			84	0	0		90	0.04	4	NM_017798	44	0	0	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	CCDS13511.1																																																																																					0.567	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080110.2		NM_017798		A	61833918	G	A	61833918	2	1	64	1	0	0	0	0	0	0	0	1	17522	1140	40	1		1	YTHDF1	20	61833918	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		61833918	1191602	69	4625											
LRRC3	81543	mdanderson.org	37	chr21	45876718	45876718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtccccgaggacatcccggCcaacaccgtgctcctgaagc	8	5	11	17	3	0	1	0	1	0	0	3	3	3	2	6	3	3	1	6	3	2	0			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr21:45876718C>T	ENST00000291592.4	+	2	508	c.191C>T	c.(190-192)gCc>gTc	p.A64V	LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	64	LRRNT.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GACATCCCGGCCAACACCGTG	0.677																																					p.A64V													.	.			0			c.C191T												36	38	37					21																	45876718		2202	4300	6502	SO:0001583	missense	81543	exon2			TCCCGGCCAACAC	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.191C>T	21.37:g.45876718C>T	ENSP00000291592:p.Ala64Val		44	0	0		46	0.07	3	NM_030891	5	0	0	Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	2.670	-0.277677	0.05679	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	D	0.89746	-2.56	4.47	2.51	0.30379	Leucine-rich repeat-containing N-terminal (1);	0.691229	0.14232	N	0.332649	T	0.78868	0.4351	L	0.37697	1.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59537	-0.7436	10	0.23891	T	0.37	-11.2115	2.2239	0.03979	0.2732:0.3849:0.2428:0.0991	.	64	Q9BY71	LRRC3_HUMAN	V	64	ENSP00000291592:A64V	ENSP00000291592:A64V	A	+	2	0	LRRC3	44701146	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.019000	0.12546	2.210000	0.71456	0.561000	0.74099	GCC			0.677	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098095.3				T	45876718	C	T	45876718	3	4	64	1	0	0	0	0	1	0	0	0	9000	739	26	2	193	2	LRRC3	21	45876718	Missense_Mutation	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10		45876718	2253177	70	4626											
RFPL2	10739	bcgsc.ca	37	chr22	32589088	32589088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgcacttgaggcagacGgcgcatccacactccaggga	11	7	11	12	2	0	2	0	1	0	1	2	3	2	3	2	3	1	3	2	3	1	2	rs77728135	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr22:32589088G>A	ENST00000400237.1	-	4	1292	c.357C>T	c.(355-357)gcC>gcT	p.A119A	RFPL2_ENST00000400236.3_Silent_p.A29A|RFPL2_ENST00000248983.4_Silent_p.A29A|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Silent_p.A58A			O75678	RFPL2_HUMAN	ret finger protein-like 2	119			A -> T (in dbSNP:rs8135276).				zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGAGGCAGACGGCGCATCCAC	0.532													.|||	38	0.00758786	0.0076	0	5008	,	,		18659	0.0149		0	False		,,,				2504	0.0133				p.A119A													.	RFPL2	81		0			c.C357T												99	97	98					22																	32589088		2203	4300	6503	SO:0001819	synonymous_variant	10739	exon4			GCAGACGGCGCAT	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.357C>T	22.37:g.32589088G>A			161	0.0124223602	2		213	0.04	9	NM_001098527	18	0	0		Silent	SNP	ENST00000400237.1	37	CCDS43009.2																																																																																					0.532	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000075262.2		NM_006605		A	32589088	G	A	32589088	2	1	64	1	0	0	0	0	0	0	0	1	13277	1103	39	1		1	RFPL2	22	32589088	Silent	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		32589088	18715478	71	4627											
CACNA1I	8911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	40055123	40055123	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcttcatcttcaggTgagcctgccctgctgggggc	4	13	11	13	0	6	1	3	1	3	0	6	1	6	1	2	3	3	1	2	3	0	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr22:40055123T>G	ENST00000402142.3	+	12	2330		c.e12+2		CACNA1I_ENST00000404898.1_Splice_Site|CACNA1I_ENST00000401624.1_Splice_Site|CACNA1I_ENST00000400164.3_Splice_Site|CACNA1I_ENST00000407673.1_Splice_Site|CACNA1I_ENST00000336649.4_Splice_Site	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCTTCAGGTGAGCCTGCCC	0.622																																					.													.	.			0			c.2330+2T>G												47	49	48					22																	40055123		2137	4252	6389	SO:0001630	splice_region_variant	8911	exon12			TTCAGGTGAGCCT	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2330+2T>G	22.37:g.40055123T>G			51	0	0		53	0.11	6	NM_021096	0		0	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Splice_Site	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593200	0.86953	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3995	0.67034	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1I	38385069	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.951000	0.87819	1.856000	0.53863	0.533000	0.62120	.			0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000321290.1		NM_001003406	Intron	G	40055123	T	G	40055123	5	3	64	1	0	0	0	0	0	0	1	0	2548	1710	59	4	2378	4	CACNA1I	22	40055123	Splice_Site	SNP	T	TCGA-2G-AALF-01A-11D-A42Y-10	7466035	40055123	11249443	72	4628											
RBM10	8241	broad.mit.edu;mdanderson.org	37	chrX	47030579	47030579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaggaggaggaggaGgaggatgaggaggaggagga	13	1	27	0	0	0	1	0	1	0	0	0	13	0	13	0	13	0	0	0	13	0	0			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chrX:47030579G>T	ENST00000377604.3	+	4	1096	c.354G>T	c.(352-354)gaG>gaT	p.E118D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	118	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggaggatgagg	0.662																																					p.E183D	Melanoma(171;120 2705 19495 39241)												.	RBM10	117		0			c.G549T												20	19	19					X																	47030579		2201	4293	6494	SO:0001583	missense	8241	exon4			GGAGGAGGAGGAT	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.354G>T	X.37:g.47030579G>T	ENSP00000366829:p.Glu118Asp		63	0	0		56	0.07	4	NM_001204468	1	0	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246384	0.22796	.	.	ENSG00000182872	ENST00000377604	T	0.10763	2.84	3.64	-1.2	0.09554	Nucleotide-binding, alpha-beta plait (1);	1.051780	0.07609	N	0.925008	T	0.05593	0.0147	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41998	-0.9477	10	0.18276	T	0.48	-0.0296	10.6407	0.45592	0.0:0.0:0.2596:0.7404	.	183;118;118	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	118	ENSP00000366829:E118D	ENSP00000366829:E118D	E	+	3	2	RBM10	46915523	0.660000	0.27420	0.676000	0.29932	0.897000	0.52465	-0.676000	0.05221	-0.561000	0.06094	-0.390000	0.06520	GAG			0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676		T	47030579	G	T	47030579	3	4	64	1	0	0	0	0	1	0	0	0	13134	991	35	3	364	3	RBM10	23	47030579	Missense_Mutation	SNP	G	TCGA-2G-AALF-01A-11D-A42Y-10		47030579	108239981	73	4629											
RPS6KA6	27330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	83361424	83361424	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgcatcgcttgcaaacAgagtaggagccaacaccaat	14	8	9	10	1	0	1	0	0	0	1	1	2	0	2	2	1	5	5	2	1	5	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chrX:83361424A>G	ENST00000262752.2	-	15	1321	c.1314T>C	c.(1312-1314)tcT>tcC	p.S438S	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.S438S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	438	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCTTGCAAACAGAGTAGGAGC	0.343																																					p.S438S													.	.			0			c.T1314C												122	90	101					X																	83361424		2203	4299	6502	SO:0001819	synonymous_variant	27330	exon15			GCAAACAGAGTAG	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1314T>C	X.37:g.83361424A>G			97	0	0		118	0.46	54	NM_014496	0		0	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	CCDS14451.1																																																																																					0.343	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057372.1		NM_014496		G	83361424	A	G	83361424	2	3	64	1	0	0	0	0	0	0	0	1	13678	175	7	4		4	RPS6KA6	23	83361424	Silent	SNP	A	TCGA-2G-AALF-01A-11D-A42Y-10	36330845	83361424	71909136	74	4630											
PDZD4	57595	mdanderson.org	37	chrX	153071022	153071022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttcctggctcaggatggCcaccgcctcttcccggttct	3	12	9	17	2	4	0	1	0	3	0	6	1	6	1	5	4	0	2	5	4	0	3			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chrX:153071022C>T	ENST00000164640.4	-	6	780	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	PDZD4_ENST00000544474.1_Missense_Mutation_p.A88T|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Missense_Mutation_p.A122T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	197	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					CTCAGGATGGCCACCGCCTCT	0.622																																					p.A197T													.	.			0			c.G589A												89	78	82					X																	153071022		2202	4300	6502	SO:0001583	missense	57595	exon6			GGATGGCCACCGC	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.589G>A	X.37:g.153071022C>T	ENSP00000164640:p.Ala197Thr		28	0	0		35	0.09	3	NM_032512	0		0	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532268	0.96446	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.28454	1.61;1.61;1.61	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	M	0.63169	1.94	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.941;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.733;0.999;0.999;1.0	T	0.56896	-0.7903	10	0.66056	D	0.02	-30.6201	16.6455	0.85176	0.0:1.0:0.0:0.0	.	88;203;197;122;101	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	T	197;122;101;88	ENSP00000164640:A197T;ENSP00000377355:A122T;ENSP00000442033:A88T	ENSP00000164640:A197T	A	-	1	0	PDZD4	152724216	1.000000	0.71417	0.983000	0.44433	0.965000	0.64279	7.818000	0.86416	2.189000	0.69895	0.529000	0.55759	GCC			0.622	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061013.3		NM_032512		T	153071022	C	T	153071022	3	4	64	1	0	0	0	0	1	0	0	0	11720	739	26	2	1732	2	PDZD4	23	153071022	Missense_Mutation	SNP	C	TCGA-2G-AALF-01A-11D-A42Y-10	69709598	153071022	2199538	75	4631											
ALDH4A1	8659	mdanderson.org	37	chr1	19216533	19216533	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatctcgctcagggctGccctgcgtgaaggctaagac	8	7	14	12	2	2	2	1	1	1	1	3	2	2	2	1	3	2	4	1	3	2	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr1:19216533G>T	ENST00000375341.3	-	2	386	c.129C>A	c.(127-129)ggC>ggA	p.G43G	ALDH4A1_ENST00000538309.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Silent_p.G43G|ALDH4A1_ENST00000538839.1_Silent_p.G43G	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	43					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCAGGGCTGCCCTGCGTGA	0.637																																					p.G43G													.	.			0			c.C129A												46	37	40					1																	19216533		2203	4300	6503	SO:0001819	synonymous_variant	8659	exon2			AGGGCTGCCCTGC	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.129C>A	1.37:g.19216533G>T			34	0	0		31	0.1	3	NM_003748	1	0	0	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	CCDS188.1																																																																																					0.637	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006954.1				T	19216533	G	T	19216533	2	4	65	1	0	0	0	0	0	0	0	1	501	1306	46	2		2	ALDH4A1	1	19216533	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		19216533	230034088	1	4632											
MACF1	23499	broad.mit.edu	37	chr1	39783026	39783026	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggagcgctatcaggaaaaAggctcccagctgcaggagcg	11	6	14	10	2	1	0	1	0	0	0	2	3	2	3	1	4	4	4	1	4	3	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr1:39783026A>G	ENST00000372915.3	+	28	3831	c.3744A>G	c.(3742-3744)aaA>aaG	p.K1248K	MACF1_ENST00000539005.1_Silent_p.K1248K|MACF1_ENST00000564288.1_Silent_p.K1243K|MACF1_ENST00000361689.2_Silent_p.K1248K|MACF1_ENST00000317713.7_Silent_p.K1248K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Silent_p.K1280K|MACF1_ENST00000545844.1_Silent_p.K1248K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1248					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)			ATCAGGAAAAAGGCTCCCAGC	0.542																																					p.K1248K													.	MACF1	909		0			c.A3744G												84	80	81					1																	39783026		2203	4300	6503	SO:0001819	synonymous_variant	23499	exon30			GGAAAAAGGCTCC	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.3744A>G	1.37:g.39783026A>G			120	0	0		114	0.03	3	NM_012090	0		0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	A	10.93	1.490827	0.26774	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.74	2.11	0.27256	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46624	-0.9178	4	.	.	.	.	7.326	0.26555	0.5627:0.0:0.4373:0.0	.	.	.	.	G	382	.	.	R	+	1	2	MACF1	39555613	0.998000	0.40836	0.994000	0.49952	0.977000	0.68977	0.531000	0.23052	0.458000	0.26988	0.451000	0.29950	AGG			0.542	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding		OTTHUMT00000392096.1		NM_033044		G	39783026	A	G	39783026	2	3	65	1	0	0	0	0	0	0	0	1	9160	69	3	4		4	MACF1	1	39783026	Silent	SNP	A	TCGA-2G-AALG-01A-11D-A42Y-10	20566493	39783026	209467595	2	4633											
OVGP1	5016	bcgsc.ca	37	chr1	111957533	111957533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcacaggggtcacagaCtgatgacccacaggggtcag	11	6	13	11	0	3	4	3	3	0	1	3	4	3	4	1	4	0	0	1	4	0	0	rs112145355		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					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)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q													.	OVGP1	177		0			c.G1590A												59	57	58					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	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.1590G>A	1.37:g.111957533C>T			120	0.0083333333	1		147	0.2	29	NM_002557	3	0	0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																					0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032461.1		NM_002557		T	111957533	C	T	111957533	2	4	65	1	0	0	0	0	0	0	0	1	11342	564	20	3		3	OVGP1	1	111957533	Silent	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10	72174507	111957533	137293088	3	4634			1	11		2	2	24	N	T_C	4.903497e-05
OVGP1	5016	bcgsc.ca	37	chr1	111957556	111957556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacccacaggggtcagggTcttttccccaggggtcacag	8	8	13	12	0	3	1	2	1	1	0	4	1	4	1	3	5	0	0	3	5	0	2	rs140282461|rs376377993		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr1:111957556T>C	ENST00000369732.3	-	11	1622	c.1567A>G	c.(1567-1569)Acc>Gcc	p.T523A		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	523					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)		GGGGTCAGGGTCTTTTCCCCA	0.557																																					p.T523A													.	OVGP1	177		0			c.A1567G												55	51	52					1																	111957556		2199	4217	6416	SO:0001583	missense	5016	exon11			TCAGGGTCTTTTC	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.1567A>G	1.37:g.111957556T>C	ENSP00000358747:p.Thr523Ala		126	0	0		131	0.08	10	NM_002557	6	0	0	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.243335	0.58995	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.03831	3.79	3.05	-4.06	0.03986	.	.	.	.	.	T	0.00906	0.0030	N	0.22421	0.69	0.09310	N	1	B;B	0.25486	0.127;0.127	B;B	0.13407	0.009;0.009	T	0.48246	-0.9052	9	0.66056	D	0.02	.	3.9881	0.09525	0.5528:0.0:0.186:0.2613	.	523;587	Q12889;Q59HH5	OVGP1_HUMAN;.	A	523;587;331	ENSP00000358747:T523A	ENSP00000358743:T587A	T	-	1	0	OVGP1	111759079	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	-1.387000	0.02535	-0.462000	0.06984	0.473000	0.43528	ACC			0.557	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032461.1		NM_002557		C	111957556	T	C	111957556	3	2	65	1	0	0	0	0	1	0	0	0	11342	1667	58	4	473	4	OVGP1	1	111957556	Missense_Mutation	SNP	T	TCGA-2G-AALG-01A-11D-A42Y-10	23	111957556	137293065	4	4635			1	11		2	2	24	N	T_C	4.903497e-05
DENND4B	9909	broad.mit.edu	37	chr1	153914771	153914771	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatgggcaggcagaagacGggcactgactcgggcagcgg	9	3	17	12	3	0	3	0	1	0	2	1	3	0	3	1	5	1	4	1	5	1	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr1:153914771G>T	ENST00000361217.4	-	5	1120	c.702C>A	c.(700-702)ccC>ccA	p.P234P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	234	UDENN.				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)			GGCAGAAGACGGGCACTGACT	0.647																																					p.P234P													.	DENND4B	210		0			c.C702A												57	71	67					1																	153914771		2109	4209	6318	SO:0001819	synonymous_variant	9909	exon5			GAAGACGGGCACT	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.702C>A	1.37:g.153914771G>T			62	0	0		61	0.05	3	NM_014856	2	0	0	Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1																																																																																					0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090278.2		XM_375806		T	153914771	G	T	153914771	2	4	65	1	0	0	0	0	0	0	0	1	4439	1103	39	1		1	DENND4B	1	153914771	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	41957215	153914771	95335850	5	4636											
RGL1	23179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	183816714	183816714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacaggttgaaggggaccaGctgcctccaggacacacagt	12	6	12	11	0	0	1	0	1	0	0	1	3	1	3	3	4	3	2	3	4	2	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr1:183816714G>A	ENST00000360851.3	+	3	331	c.153G>A	c.(151-153)caG>caA	p.Q51Q	RGL1_ENST00000536277.1_Silent_p.Q49Q|RGL1_ENST00000304685.4_Silent_p.Q86Q|RGL1_ENST00000539189.1_Silent_p.Q51Q			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	51					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						AAGGGGACCAGCTGCCTCCAG	0.428																																					p.Q86Q													.	.			0			c.G258A												154	167	162					1																	183816714		2203	4300	6503	SO:0001819	synonymous_variant	23179	exon4			GGACCAGCTGCCT	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.153G>A	1.37:g.183816714G>A			88	0	0		95	0.22	21	NM_015149	0		0	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37																																																																																						0.428	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000085742.1		NM_015149		A	183816714	G	A	183816714	2	1	65	1	0	0	0	0	0	0	0	1	13299	962	34	2		2	RGL1	1	183816714	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	29901943	183816714	65433907	6	4637											
ADCY3	109	mdanderson.org	37	chr2	25050963	25050963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacttggggttctccaggCagctgccctccgtttccatc	6	12	9	14	1	1	0	0	0	1	0	5	0	3	0	4	3	3	4	4	3	2	4			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr2:25050963C>T	ENST00000260600.5	-	13	3091	c.2240G>A	c.(2239-2241)tGc>tAc	p.C747Y	ADCY3_ENST00000450524.1_5'UTR|RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Intron	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	747					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)					GTTCTCCAGGCAGCTGCCCTC	0.602											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C747Y													.	.			0			c.G2240A												94	73	80					2																	25050963		2203	4300	6503	SO:0001583	missense	109	exon13			TCCAGGCAGCTGC	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.2240G>A	2.37:g.25050963C>T	ENSP00000260600:p.Cys747Tyr		80	0	0	776	101	0.05	5	NM_004036	17	0	0	B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154872	0.38021	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T	0.70045	-0.45;-0.45;-0.45	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.61664	0.2365	L	0.59436	1.845	0.80722	D	1	B;B	0.33266	0.067;0.404	B;B	0.35550	0.04;0.205	T	0.59994	-0.7349	10	0.02654	T	1	.	18.1003	0.89504	0.0:1.0:0.0:0.0	.	747;747	B7ZLX9;O60266	.;ADCY3_HUMAN	Y	747;722;86;90	ENSP00000260600:C747Y;ENSP00000402008:C86Y;ENSP00000410972:C90Y	ENSP00000260600:C747Y	C	-	2	0	ADCY3	24904467	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.539000	0.82063	2.608000	0.88229	0.561000	0.74099	TGC			0.602	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211574.2				T	25050963	C	T	25050963	3	4	65	1	0	0	0	0	1	0	0	0	295	710	25	2	1230	2	ADCY3	2	25050963	Missense_Mutation	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10		25050963	218148410	7	4638											
RNF103	7844	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	86849821	86849821	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccggacatccttcttctcGggcaaccctgagtagcccaa	8	9	8	16	2	2	1	0	1	2	0	5	2	4	2	4	2	2	2	4	2	3	3	rs139047742		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr2:86849821G>C	ENST00000237455.4	-	1	1157	c.189C>G	c.(187-189)ccC>ccG	p.P63P	CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	63					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CCTTCTTCTCGGGCAACCCTG	0.612																																					p.P63P													.	.			0			c.C189G							G	,,,	0,4406		0,0,2203	73	81	78		177,189,,189	-5.6	0.9	2	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	RNF103,RNF103-VPS24	NM_001198951.1,NM_001198952.1,NM_001198954.1,NM_005667.3	,,,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,,,	59/682,63/123,,63/686	86849821	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7844	exon1			CTTCTCGGGCAAC	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.189C>G	2.37:g.86849821G>C			217	0	0		287	0.08	24	NM_005667	4	0	0	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Silent	SNP	ENST00000237455.4	37	CCDS33237.1																																																																																			0		0.612	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330041.2		NM_005667		C	86849821	G	C	86849821	2	2	65	1	0	0	0	0	0	0	0	1	13446	1103	39	5		5	RNF103	2	86849821	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	61798858	86849821	156349552	8	4639											
RGPD5	727851	broad.mit.edu	37	chr2	113147636	113147636	+	Frame_Shift_Del	DEL	A	A	-																															aaagtgctacttgtttggccAaaaatcacaccacggccctt																										TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr2:113147636delA	ENST00000302558.3	-	20	3077	c.2886delT	c.(2884-2886)tttfs	p.F962fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	962					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						TTGTTTGGCCAAAAATCACAC	0.408																																					p.F962fs													.	RGPD8	81		0			c.2886delT												80	72	74					2																	113147636		686	1568	2254	SO:0001589	frameshift_variant	727851	exon20			TTGGCCAAAAATC	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.2886delT	2.37:g.113147636delA	ENSP00000306637:p.Phe962fs		1573	0	0		1798	0.01	10	NM_001164463	1	0	0	Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	37	CCDS46394.1																																																																																					0.408	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375951.1		XM_001722279		-	113147636	A	-	113147636	7	5	65	1	0	1	0	1	0	0	0	0	13312	127	5	0	13441	0	RGPD5	2	113147636	Frame_Shift_Del	DEL	A	TCGA-2G-AALG-01A-11D-A42Y-10	26297815	113147636	130051737	9	4640											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32582556	32582556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactactagtactggaatGcccaagttatgtgtaagtgt	13	12	9	7	0	0	0	0	0	0	0	0	1	0	1	1	1	4	3	1	1	8	5			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr3:32582556G>T	ENST00000273130.4	-	5	814	c.711C>A	c.(709-711)ggC>ggA	p.G237G	DYNC1LI1_ENST00000432458.2_Silent_p.G121G	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	237					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GTACTGGAATGCCCAAGTTAT	0.428																																					p.G237G													.	DYNC1LI1	23		0			c.C711A												208	189	195					3																	32582556		2203	4300	6503	SO:0001819	synonymous_variant	51143	exon5			TGGAATGCCCAAG	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.711C>A	3.37:g.32582556G>T			136	0	0		134	0.03	4	NM_016141	30	0.03	1	A2RRG7|Q53HC8|Q53HK7	Silent	SNP	ENST00000273130.4	37	CCDS2654.1																																																																																					0.428	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253250.1		NM_016141		T	32582556	G	T	32582556	2	4	65	1	0	0	0	0	0	0	0	1	4849	1306	46	2		2	DYNC1LI1	3	32582556	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		32582556	165439874	10	4641											
C3orf54	7318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49841691	49841691	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactggcccagatgtgcaGcccagccaccagcttagggc	10	5	11	15	0	0	1	0	0	0	1	0	1	0	1	4	2	5	2	4	2	2	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr3:49841691G>A	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Silent_p.Q45Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGATGTGCAGCCCAGCCACC	0.612																																					p.Q45Q													.	.			0			c.G135A												82	83	83					3																	49841691		2203	4300	6503	SO:0001628	intergenic_variant	389119	exon2			TGTGCAGCCCAGC	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49841691G>A			67	0	0		57	0.25	14	NM_203370	53	0.26	14	Q9BRB2	Silent	SNP	ENST00000333486.3	37	CCDS2805.1																																																																																					0.612	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350503.1		NM_003335		A	49841691	G	A	49841691	1	1	65	0	1	0	0	0	0	0	0	0	2235	962	34	2		2	C3orf54	3	49841691	IGR	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	17259135	49841691	148180739	11	4642											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527581	64527581	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtggcataagtggctgggTtggtcctcattggttaaaca	8	13	14	6	0	1	0	1	0	0	0	2	0	2	0	1	5	1	4	1	5	3	4			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr3:64527581T>G	ENST00000498707.1	-	33	5472	c.5130A>C	c.(5128-5130)caA>caC	p.Q1710H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q1682H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1710	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		AGTGGCTGGGTTGGTCCTCAT	0.448																																					p.Q1710H													.	ADAMTS9	206		0			c.A5130C												182	172	176					3																	64527581		2203	4300	6503	SO:0001583	missense	56999	exon33			GCTGGGTTGGTCC	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.5130A>C	3.37:g.64527581T>G	ENSP00000418735:p.Gln1710His		185	0.1243243243	23		169	0.2	33	NM_182920	4	0	0	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.04|17.04	3.287559|3.287559	0.59976|0.59976	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.55052	.|0.54;0.54	5.7|5.7	-1.59|-1.59	0.08453|0.08453	.|.	.|0.069831	.|0.64402	.|D	.|0.000015	T|T	0.57036|0.57036	0.2026|0.2026	L|L	0.49699|0.49699	1.58|1.58	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58970	.|0.984;0.973	.|P;P	.|0.59115	.|0.852;0.852	T|T	0.56932|0.56932	-0.7897|-0.7897	5|10	.|0.41790	.|T	.|0.15	.|.	12.6626|12.6626	0.56822|0.56822	0.0:0.6324:0.0:0.3676|0.0:0.6324:0.0:0.3676	.|.	.|1682;1710	.|B7ZVX9;Q9P2N4	.|.;ATS9_HUMAN	T|H	766|1682;1710	.|ENSP00000295903:Q1682H;ENSP00000418735:Q1710H	.|ENSP00000295903:Q1682H	N|Q	-|-	2|3	0|2	ADAMTS9|ADAMTS9	64502621|64502621	0.704000|0.704000	0.27836|0.27836	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	-0.120000|-0.120000	0.10660|0.10660	-0.095000|-0.095000	0.12351|0.12351	-0.353000|-0.353000	0.07706|0.07706	AAC|CAA			0.448	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351891.1				G	64527581	T	G	64527581	3	3	65	1	0	0	0	0	1	0	0	0	273	1722	60	4	705	4	ADAMTS9	3	64527581	Missense_Mutation	SNP	T	TCGA-2G-AALG-01A-11D-A42Y-10	14685890	64527581	133494849	12	4643											
JAKMIP1	152789	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	6107587	6107589	+	In_Frame_Del	DEL	CTC	CTC	-																															gcctgcagctccttggtcttCtcctcatgcagcttggcctt																										TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	CTC	CTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr4:6107587_6107589delCTC	ENST00000282924.5	-	3	720_722	c.235_237delGAG	c.(235-237)gagdel	p.E79del	JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_In_Frame_Del_p.E79del|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409021.3_In_Frame_Del_p.E79del|JAKMIP1_ENST00000409371.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	79	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTGGTCTTCTCCTCATGCAGC	0.68																																					p.79_80del													.	JAKMIP1	250		0			c.236_238del																																									SO:0001651	inframe_deletion	152789	exon3			GGTCTTCTCCTCA	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.235_237delGAG	4.37:g.6107590_6107592delCTC	ENSP00000282924:p.Glu79del		72	0	0		54	0.22	12	NM_144720	1	0	0	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	In_Frame_Del	DEL	ENST00000282924.5	37	CCDS3385.1																																																																																					0.68	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246816.2		NM_144720		-	6107589	CTC	-	6107587	7	5	65	1	0	1	0	1	0	0	0	0	7955	912	32	0	2409	0	JAKMIP1	4	6107587	In_Frame_Del	DEL	CTC	TCGA-2G-AALG-01A-11D-A42Y-10		6107587	185046689	13	4644											
RXRB	6257	mdanderson.org	37	chr6	33168217	33168217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactgccctgcggcatgccGctgagggaggaagggcgggc	7	4	18	12	3	0	1	0	1	0	0	0	3	0	3	2	5	3	2	2	5	1	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr6:33168217G>A	ENST00000374680.3	-	1	248	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	RXRB_ENST00000374685.4_Missense_Mutation_p.R13W|RXRB_ENST00000413614.2_5'UTR|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000544186.1_Intron|SLC39A7_ENST00000374675.3_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	13	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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 transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCGGCATGCCGCTGAGGGAGG	0.667																																					p.R13W													.	.			0			c.C37T												13	12	12					6																	33168217		1497	2705	4202	SO:0001583	missense	6257	exon1			CATGCCGCTGAGG	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.37C>T	6.37:g.33168217G>A	ENSP00000363812:p.Arg13Trp		18	0	0		38	0.08	3	NM_021976	9	0	0	P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164524	0.57476	.	.	ENSG00000204231	ENST00000374685;ENST00000374680	D;D	0.93811	-3.29;-3.29	4.51	4.51	0.55191	.	1.821170	0.02948	N	0.141368	D	0.86151	0.5864	N	0.14661	0.345	0.80722	D	1	D;P;P;P	0.63880	0.993;0.938;0.938;0.938	B;B;B;B	0.44315	0.446;0.042;0.026;0.026	T	0.76495	-0.2938	10	0.87932	D	0	.	12.906	0.58152	0.0:0.0:1.0:0.0	.	13;13;53;13	B7Z6J2;B7Z6X3;Q59G65;P28702	.;.;.;RXRB_HUMAN	W	13	ENSP00000363817:R13W;ENSP00000363812:R13W	ENSP00000363812:R13W	R	-	1	2	RXRB	33276195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.722000	0.54948	2.494000	0.84150	0.549000	0.68633	CGG			0.667	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000076642.2		NM_021976		A	33168217	G	A	33168217	3	1	65	1	0	0	0	0	1	0	0	0	13787	1086	38	1	1604	1	RXRB	6	33168217	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		33168217	137946850	14	4645											
CRIP3	401262	mdanderson.org	37	chr6	43274254	43274254	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtcttcatatggggaggGcctttaaaggggaagaggcc	11	9	15	6	0	2	1	1	0	1	1	2	3	2	3	2	6	0	0	2	6	5	4			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr6:43274254G>T	ENST00000274990.4	-	5	334	c.330C>A	c.(328-330)agC>agA	p.S110R	CRIP3_ENST00000372569.3_Splice_Site_p.S110R|ZNF318_ENST00000607252.1_5'Flank			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	110					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TATGGGGAGGGCCTTTAAAGG	0.552																																					p.S110R													.	.			0			c.C330A												46	45	45					6																	43274254		2203	4300	6503	SO:0001630	splice_region_variant	401262	exon5			GGGAGGGCCTTTA	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.329-1C>A	6.37:g.43274254G>T			120	0	0		117	0.04	5	NM_206922	0		0	A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP	ENST00000274990.4	37		.	.	.	.	.	.	.	.	.	.	G	11.68	1.711692	0.30322	.	.	ENSG00000146215	ENST00000372569;ENST00000274990	T;T	0.72282	-0.29;-0.64	4.97	4.09	0.47781	.	1.257960	0.05711	N	0.595937	T	0.32704	0.0838	N	0.08118	0	0.28327	N	0.921977	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.15925	-1.0420	10	0.21540	T	0.41	.	13.6395	0.62241	0.0:0.1561:0.8439:0.0	.	110;110	Q6Q6R5;Q6Q6R5-3	CRIP3_HUMAN;.	R	110	ENSP00000361650:S110R;ENSP00000274990:S110R	ENSP00000274990:S110R	S	-	3	2	CRIP3	43382232	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.835000	0.48175	1.194000	0.43101	0.561000	0.74099	AGC			0.552	CRIP3-004	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000313968.1			Missense_Mutation	T	43274254	G	T	43274254	5	4	65	1	0	0	0	0	0	0	1	0	3878	1217	42	2	300	2	CRIP3	6	43274254	Splice_Site	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	10106037	43274254	127840813	15	4646											
C6orf167	253714	mdanderson.org	37	chr6	97729152	97729152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctagatgaattcactaatGctgtttcagtaacccactga	12	13	6	10	0	3	3	2	2	1	1	3	3	3	3	1	0	2	3	1	0	4	5			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr6:97729152G>T	ENST00000275053.4	-	3	516	c.251C>A	c.(250-252)gCa>gAa	p.A84E	MMS22L_ENST00000369251.2_Missense_Mutation_p.A84E	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	84					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTCACTAATGCTGTTTCAGT	0.318																																					p.A84E													.	.			0			c.C251A												120	123	122					6																	97729152		2203	4300	6503	SO:0001583	missense	253714	exon3			ACTAATGCTGTTT		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.251C>A	6.37:g.97729152G>T	ENSP00000275053:p.Ala84Glu		43	0	0		42	0.07	3	NM_198468	2	0	0	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707977	0.89018	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018	T;T;T	0.36520	1.25;1.25;1.25	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62393	-0.6864	10	0.87932	D	0	-4.9126	16.7007	0.85349	0.0:0.1298:0.8702:0.0	.	84;84	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	E	84;84;10	ENSP00000275053:A84E;ENSP00000358254:A84E;ENSP00000427288:A10E	ENSP00000275053:A84E	A	-	2	0	MMS22L	97835873	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	6.865000	0.75500	1.384000	0.46424	0.591000	0.81541	GCA			0.318	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041573.3		NM_198468		T	97729152	G	T	97729152	3	4	65	1	0	0	0	0	1	0	0	0	2344	1319	46	2	3572	2	C6orf167	6	97729152	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	54454898	97729152	73385915	16	4647											
TFR2	7036	mdanderson.org	37	chr7	100238346	100238346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccctcccccaggaactGcaggaacatggcctggaggt	8	5	13	15	1	0	0	0	0	0	0	1	3	1	3	5	5	3	1	5	5	2	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr7:100238346G>T	ENST00000462107.1	-	4	723	c.436C>A	c.(436-438)Cag>Aag	p.Q146K	TFR2_ENST00000223051.3_Missense_Mutation_p.Q146K|TFR2_ENST00000431692.1_Missense_Mutation_p.Q146K			Q9UP52	TFR2_HUMAN	transferrin receptor 2	146					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)	CCCAGGAACTGCAGGAACATG	0.607																																					p.Q146K													TFR2,NS,carcinoma,+2,1	TFR2	2	1	0			c.C436A												41	41	41					7																	100238346		2203	4300	6503	SO:0001583	missense	7036	exon3			GGAACTGCAGGAA	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.436C>A	7.37:g.100238346G>T	ENSP00000420525:p.Gln146Lys		45	0	0		48	0.06	3	NM_003227	0		0	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	6.692	0.496233	0.12762	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.47869	1.19;0.83;1.19	4.47	1.32	0.21799	.	0.317822	0.28914	N	0.013732	T	0.16514	0.0397	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	10	0.06757	T	0.87	-18.6018	9.7745	0.40609	0.0:0.0:0.4523:0.5477	.	146	Q9UP52	TFR2_HUMAN	K	146	ENSP00000223051:Q146K;ENSP00000413905:Q146K;ENSP00000420525:Q146K	ENSP00000223051:Q146K	Q	-	1	0	TFR2	100076282	0.968000	0.33430	0.781000	0.31783	0.694000	0.40290	1.501000	0.35693	0.583000	0.29574	0.313000	0.20887	CAG			0.607	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356392.3		NM_003227		T	100238346	G	T	100238346	3	4	65	1	0	0	0	0	1	0	0	0	15834	1328	46	2	2033	2	TFR2	7	100238346	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		100238346	58900317	17	4648											
PXDNL	137902	broad.mit.edu	37	chr8	52232504	52232504	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtctctgcaaactggacAgcaggttcctttcaccaatt	9	12	8	12	1	2	0	1	0	1	0	5	1	3	1	2	3	3	3	2	3	2	3			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr8:52232504A>T	ENST00000356297.4	-	23	4439	c.4339T>A	c.(4339-4341)Tgt>Agt	p.C1447S	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1447	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)				CAAACTGGACAGCAGGTTCCT	0.512																																					p.C1447S													PXDNL_ENST00000356297,larynx,carcinoma,+1,1	PXDNL	414	1	0			c.T4339A												54	54	54					8																	52232504		1896	4106	6002	SO:0001583	missense	137902	exon23			CTGGACAGCAGGT		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.4339T>A	8.37:g.52232504A>T	ENSP00000348645:p.Cys1447Ser		140	0	0		191	0.02	4	NM_144651	3	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873773	0.51695	.	.	ENSG00000147485	ENST00000356297	D	0.92048	-2.96	4.51	3.35	0.38373	von Willebrand factor, type C (4);	.	.	.	.	D	0.96256	0.8779	H	0.94503	3.545	0.09310	N	0.999998	D	0.56521	0.976	D	0.65140	0.932	D	0.89472	0.3744	9	0.87932	D	0	.	6.7242	0.23346	0.8897:0.0:0.1103:0.0	.	1447	A1KZ92	PXDNL_HUMAN	S	1447	ENSP00000348645:C1447S	ENSP00000348645:C1447S	C	-	1	0	PXDNL	52395057	0.019000	0.18553	0.002000	0.10522	0.004000	0.04260	0.966000	0.29331	0.595000	0.29777	0.533000	0.62120	TGT			0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377905.1		NM_144651		T	52232504	A	T	52232504	3	4	65	1	0	0	0	0	1	0	0	0	12871	188	7	5	56	5	PXDNL	8	52232504	Missense_Mutation	SNP	A	TCGA-2G-AALG-01A-11D-A42Y-10		52232504	94131518	18	4649											
SLC39A4	55630	mdanderson.org	37	chr8	145641504	145641504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagacaagtgagcaggggcGctgggcccaccagggagggg	10	2	20	9	1	0	2	0	1	0	1	0	4	0	3	2	6	1	2	2	6	1	0	rs201917734	byFrequency	TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr8:145641504G>A	ENST00000276833.5	-	1	392	c.89C>T	c.(88-90)gCg>gTg	p.A30V	SLC39A4_ENST00000301305.3_Intron|SLC39A4_ENST00000531013.1_5'Flank	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	333					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)			GAGCAGGGGCGCTGGGCCCAC	0.692													G|||	2	0.000399361	0.0015	0	5008	,	,		15442	0		0	False		,,,				2504	0				p.A30V													.	.			0			c.C89T							G	VAL/ALA,	9,4149		0,9,2070	14	21	19		89,	-7.1	0	8		19	0,8412		0,0,4206	yes	missense,intron	SLC39A4	NM_017767.2,NM_130849.2	64,	0,9,6276	AA,AG,GG		0.0,0.2165,0.0716	,	30/623,	145641504	9,12561	2079	4206	6285	SO:0001583	missense	55630	exon1			AGGGGCGCTGGGC	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		ENST00000276833.5:c.89C>T	8.37:g.145641504G>A	ENSP00000276833:p.Ala30Val		17	0	0		23	0.09	2	NM_017767	6	0	0	Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000276833.5	37	CCDS43782.1	.	.	.	.	.	.	.	.	.	.	G	7.595	0.671593	0.14776	0.002165	0.0	ENSG00000147804	ENST00000276833	T	0.59772	0.24	3.57	-7.14	0.01527	.	.	.	.	.	T	0.24392	0.0591	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	9	0.02654	T	1	.	1.4057	0.02280	0.2928:0.1269:0.3677:0.2126	.	30	A6NDY5	.	V	30	ENSP00000276833:A30V	ENSP00000276833:A30V	A	-	2	0	SLC39A4	145612312	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	-0.291000	0.08343	-2.366000	0.00606	-1.254000	0.01491	GCG			0.692	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000382687.2				A	145641504	G	A	145641504	3	1	65	1	0	0	0	0	1	0	0	0	14643	1087	38	1	1823	1	SLC39A4	8	145641504	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	93409000	145641504	722518	19	4650											
MLLT3	4300	mdanderson.org	37	chr9	20414370	20414370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctactgctgctgctgct	1	14	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr9:20414370G>A	ENST00000380338.4	-	5	760	c.474C>T	c.(472-474)agC>agT	p.S158S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	158	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctactgc	0.532			T	MLL	ALL																																p.S158S				Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	.	.			0			c.C474T												8	14	12					9																	20414370		1695	3515	5210	SO:0001819	synonymous_variant	4300	exon5			GCTGCTGCTGCTA	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.474C>T	9.37:g.20414370G>A			30	0	0		33	0.09	3	NM_004529	2	0	0	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																					0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051872.1		NM_004529		A	20414370	G	A	20414370	2	1	65	1	0	0	0	0	0	0	0	1	9644	1310	46	2		2	MLLT3	9	20414370	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		20414370	120799061	20	4651											
TLN1	7094	mdanderson.org	37	chr9	35711280	35711280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccagctgactcttgaGgttaggggcagcagggtccg	7	8	16	10	1	1	2	0	2	1	0	2	2	2	2	2	4	4	5	2	4	1	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr9:35711280G>T	ENST00000314888.9	-	30	4344	c.3991C>A	c.(3991-3993)Ctc>Atc	p.L1331I	TLN1_ENST00000540444.1_Missense_Mutation_p.L1331I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1331	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGACTCTTGAGGTTAGGGGCA	0.572																																					p.L1331I													.	.			0			c.C3991A												53	50	51					9																	35711280		2203	4300	6503	SO:0001583	missense	7094	exon30			TCTTGAGGTTAGG	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3991C>A	9.37:g.35711280G>T	ENSP00000316029:p.Leu1331Ile		71	0	0		53	0.06	3	NM_006289	18	0	0	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603732	0.46423	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.29397	1.57;1.57	5.82	5.82	0.92795	Vinculin-binding site-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	L	0.43152	1.355	0.58432	D	0.999994	B	0.28258	0.205	B	0.35114	0.196	T	0.04320	-1.0960	10	0.22706	T	0.39	-11.2198	15.5604	0.76240	0.0:0.1372:0.8628:0.0	.	1331	Q9Y490	TLN1_HUMAN	I	1331	ENSP00000316029:L1331I;ENSP00000442981:L1331I	ENSP00000316029:L1331I	L	-	1	0	TLN1	35701280	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.212000	0.51145	2.756000	0.94617	0.561000	0.74099	CTC			0.572	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052353.2		NM_006289		T	35711280	G	T	35711280	3	4	65	1	0	0	0	0	1	0	0	0	15970	1000	35	3	3746	3	TLN1	9	35711280	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	15296910	35711280	105502151	21	4652											
PTCH1	5727	broad.mit.edu;bcgsc.ca	37	chr9	98209504	98209524	+	In_Frame_Del	DEL	CGGGCCCCGCGAGGGCCCCAG	CGGGCCCCGCGAGGGCCCCAG	-																															ggttccgagggttgtgagaaCgggccccgcgagggccccag																								rs556901417|rs200100952|rs576944494|rs575146278		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	CGGGCCCCGCGAGGGCCCCAG	CGGGCCCCGCGAGGGCCCCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr9:98209504_98209524delCGGGCCCCGCGAGGGCCCCAG	ENST00000331920.6	-	23	4313_4333	c.4014_4034delCTGGGGCCCTCGCGGGGCCCG	c.(4012-4035)cgctggggccctcgcggggcccgt>cgt	p.1338_1345RWGPRGAR>R	PTCH1_ENST00000421141.1_In_Frame_Del_p.1187_1194RWGPRGAR>R|PTCH1_ENST00000418258.1_In_Frame_Del_p.1187_1194RWGPRGAR>R|PTCH1_ENST00000430669.2_In_Frame_Del_p.1272_1279RWGPRGAR>R|PTCH1_ENST00000429896.2_In_Frame_Del_p.1187_1194RWGPRGAR>R|PTCH1_ENST00000437951.1_In_Frame_Del_p.1272_1279RWGPRGAR>R|PTCH1_ENST00000375274.2_In_Frame_Del_p.1337_1344RWGPRGAR>R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1338					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)				GTTGTGAGAACGGGCCCCGCGAGGGCCCCAGCGGGCCCTAT	0.643																																					p.1338_1345del													.	PTCH1	1850		0			c.4014_4034del																																									SO:0001651	inframe_deletion	5727	exon23			TGAGAACGGGCCC	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.4014_4034delCTGGGGCCCTCGCGGGGCCCG	9.37:g.98209504_98209524delCGGGCCCCGCGAGGGCCCCAG	ENSP00000332353:p.Arg1338_Ala1344del		72	0	0		58	0.24	14	NM_000264	8	0	0	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	In_Frame_Del	DEL	ENST00000331920.6	37	CCDS6714.1																																																																																					0.643	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053229.2		NM_000264		-	98209524	CGGGCCCCGCGAGGGCCCCAG	-	98209504	7	5	65	1	0	1	0	1	0	0	0	0	12750	536	19	0	313	0	PTCH1	9	98209504	In_Frame_Del	DEL	CGGGCCCCGCGAGGGCCCCAG	TCGA-2G-AALG-01A-11D-A42Y-10	62498224	98209504	43003927	22	4653											
GOLGA2	2801	hgsc.bcm.edu;bcgsc.ca	37	chr9	131020818	131020818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcAtcctcctcctcctcccggtc	1	13	2	25	1	1	0	1	0	0	0	13	0	12	0	11	1	0	0	11	1	0	0	rs572632320|rs199744363	byFrequency	TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr9:131020818A>C	ENST00000421699.2	-	21	2136	c.2124T>G	c.(2122-2124)gaT>gaG	p.D708E	GOLGA2_ENST00000609374.1_Missense_Mutation_p.D696E|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	708	Poly-Glu.				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						cctcctcctcatcctcctcct	0.652													A|||	1033	0.20627	0.3707	0.1427	5008	,	,		9892	0.2083		0.0845	False		,,,				2504	0.1524				p.D708E													.	.			0			c.T2124G												30	11	17					9																	131020818		2129	4127	6256	SO:0001583	missense	2801	exon21			CTCCTCATCCTCC	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.2124T>G	9.37:g.131020818A>C	ENSP00000416097:p.Asp708Glu		41	0	0		22	0.18	4	NM_004486	0		0	Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	a	0.001	-4.226747	0.00001	.	.	ENSG00000167110	ENST00000421699	T	0.19250	2.16	0.418	-0.836	0.10770	.	1.458270	0.04855	N	0.443108	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	9	0.06099	T	0.92	.	.	.	.	.	708	Q08379	GOGA2_HUMAN	E	708	ENSP00000416097:D708E	ENSP00000416097:D708E	D	-	3	2	GOLGA2	130060639	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.632000	0.02024	-4.078000	0.00075	-4.219000	0.00009	GAT			0.652	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054358.2		NM_004486		C	131020818	A	C	131020818	3	2	65	1	0	0	0	0	1	0	0	0	6566	214	8	4	908	4	GOLGA2	9	131020818	Missense_Mutation	SNP	A	TCGA-2G-AALG-01A-11D-A42Y-10	32811314	131020818	10192613	23	4654											
SPTAN1	6709	mdanderson.org	37	chr9	131344818	131344818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actatgcaatggaagatgtgGccactcgccgagatgctgta	11	9	12	9	2	0	2	0	0	0	2	1	4	0	3	2	2	2	3	2	2	4	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr9:131344818G>T	ENST00000372731.4	+	13	1743	c.1633G>T	c.(1633-1635)Gcc>Tcc	p.A545S	SPTAN1_ENST00000358161.5_Missense_Mutation_p.A545S|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A545S	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	545					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						GGAAGATGTGGCCACTCGCCG	0.413																																					p.A545S	NSCLC(120;833 1744 2558 35612 37579)												.	.			0			c.G1633T												184	177	180					9																	131344818		2203	4300	6503	SO:0001583	missense	6709	exon13			GATGTGGCCACTC	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.1633G>T	9.37:g.131344818G>T	ENSP00000361816:p.Ala545Ser		59	0	0		40	0.08	3	NM_003127	4	0	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345913	0.82022	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.49139	0.79;0.79;0.79	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	L	0.58669	1.825	0.80722	D	1	B;D;P;B;B	0.63046	0.414;0.992;0.545;0.428;0.213	B;D;B;B;B	0.77004	0.224;0.989;0.36;0.25;0.262	T	0.60712	-0.7209	10	0.35671	T	0.21	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	545;545;545;545;545	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	S	545	ENSP00000350882:A545S;ENSP00000361816:A545S;ENSP00000361824:A545S	ENSP00000350882:A545S	A	+	1	0	SPTAN1	130384639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.756000	0.94617	0.561000	0.74099	GCC			0.413	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054472.1		NM_003127		T	131344818	G	T	131344818	3	4	65	1	0	0	0	0	1	0	0	0	15140	1203	42	2	1679	2	SPTAN1	9	131344818	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	324000	131344818	9868613	24	4655											
ENTPD2	954	mdanderson.org	37	chr9	139943484	139943484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaacatggccccggcgcagTagtcggccaggcgggcccgt	6	4	16	15	6	0	0	0	0	0	0	1	1	0	0	4	5	1	2	4	5	2	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr9:139943484T>C	ENST00000355097.2	-	8	1240	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	ENTPD2_ENST00000312665.5_Intron|ENTPD2_ENST00000460614.1_5'UTR|NPDC1_ENST00000488145.1_5'Flank|NPDC1_ENST00000371601.4_5'Flank	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	398					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCGGCGCAGTAGTCGGCCAG	0.711																																					p.Y398C													.	.			0			c.A1193G												3	3	3					9																	139943484		1798	3630	5428	SO:0001583	missense	954	exon8			GCGCAGTAGTCGG	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1193A>G	9.37:g.139943484T>C	ENSP00000347213:p.Tyr398Cys		17	0	0		9	0.11	1	NM_203468	21	0	0	O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098622	0.76870	.	.	ENSG00000054179	ENST00000355097	T	0.11930	2.73	3.57	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57808	-0.7747	10	0.87932	D	0	-15.2433	11.3668	0.49677	0.0:0.0:0.0:1.0	.	398;398	Q9Y5L3;Q5SPY7	ENTP2_HUMAN;.	C	398	ENSP00000347213:Y398C	ENSP00000347213:Y398C	Y	-	2	0	ENTPD2	139063305	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	2.660000	0.46749	1.608000	0.50180	0.368000	0.22195	TAC			0.711	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055169.1		NM_203468		C	139943484	T	C	139943484	3	2	65	1	0	0	0	0	1	0	0	0	5146	1638	57	4	302	4	ENTPD2	9	139943484	Missense_Mutation	SNP	T	TCGA-2G-AALG-01A-11D-A42Y-10	8598666	139943484	1269947	25	4656											
ANAPC2	29882	mdanderson.org	37	chr9	140069899	140069899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgggcatcttcaccgccttGctcagttcctccagggtcca	6	10	9	16	2	3	0	2	0	1	0	6	0	6	0	5	2	1	3	5	2	0	3			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr9:140069899G>A	ENST00000323927.2	-	12	2050	c.2046C>T	c.(2044-2046)agC>agT	p.S682S	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	682					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)		TCACCGCCTTGCTCAGTTCCT	0.701																																					p.S682S													.	.			0			c.C2046T												16	14	15					9																	140069899		2180	4289	6469	SO:0001819	synonymous_variant	29882	exon12			CGCCTTGCTCAGT	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.2046C>T	9.37:g.140069899G>A			37	0	0		36	0.08	3	NM_013366	123	0	0	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	CCDS7033.1																																																																																					0.701	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055315.1		NM_013366		A	140069899	G	A	140069899	2	1	65	1	0	0	0	0	0	0	0	1	603	1310	46	2		2	ANAPC2	9	140069899	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	126415	140069899	1143532	26	4657											
COBRA1	25920	mdanderson.org	37	chr9	140151299	140151299	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggagaaaaaactgaagctGgttatggctgacaaggagct	14	7	13	7	1	0	3	0	2	0	1	0	5	0	4	1	4	3	4	1	4	6	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr9:140151299G>T	ENST00000343053.4	+	4	727	c.390G>T	c.(388-390)ctG>ctT	p.L130L		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	130					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)											AACTGAAGCTGGTTATGGCTG	0.582																																					p.L130L													.	.			0			c.G390T												74	66	69					9																	140151299		2203	4300	6503	SO:0001819	synonymous_variant	25920	exon4			GAAGCTGGTTATG	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.390G>T	9.37:g.140151299G>T			65	0	0		48	0.06	3	NM_015456	76	0	0	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	ENST00000343053.4	37	CCDS7040.1																																																																																					0.582	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254710.1		NM_015456		T	140151299	G	T	140151299	2	4	65	1	0	0	0	0	0	0	0	1	3657	1335	47	3		3	COBRA1	9	140151299	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	81400	140151299	1062132	27	4658											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacaagggagaggtcttGatgtttttctgtgatgttga	8	15	15	3	0	2	4	0	3	2	1	2	6	2	5	0	3	0	2	0	3	1	4	rs79064394		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					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)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																					p.L362F													CSGALNACT2,NS,carcinoma,0,5	CSGALNACT2	67	5	5	Substitution - Missense(5)	endometrium(4)|kidney(1)	c.G1086T												223	221	222					10																	43659419		2203	4300	6503	SO:0001583	missense	55454	exon5			GGTCTTGATGTTT	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.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe		151	0.0066225166	1		135	0.04	5	NM_018590	7	0	0	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG			0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047693.1		NM_018590		T	43659419	G	T	43659419	3	4	65	1	0	0	0	0	1	0	0	0	3941	1281	45	3	1100	3	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		43659419	91875328	28	4659											
PGBD3	267004	broad.mit.edu	37	chr10	50724864	50724864	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcctccttgatggtggAggttgctgcacagtaaacgt	7	13	11	10	1	0	1	0	1	0	0	3	2	3	2	3	3	3	4	3	3	2	4			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr10:50724864A>G	ENST00000374127.3	-	2	498	c.297T>C	c.(295-297)ccT>ccC	p.P99P	PGBD3_ENST00000508005.2_Silent_p.P99P|ERCC6-PGBD3_ENST00000447839.2_Silent_p.P567P|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Silent_p.P567P|PGBD3_ENST00000603152.1_Silent_p.P567P	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	99										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTGATGGTGGAGGTTGCTGCA	0.453																																					p.M99I													.	PGBD3	58		0			c.G297C												119	112	114					10																	50724864		2203	4300	6503	SO:0001819	synonymous_variant	0	exon2			TGGTGGAGGTTGC	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.297T>C	10.37:g.50724864A>G			150	0	0		137	0.03	4	NM_170753	1	0	0	B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	CCDS7230.1																																																																																					0.453	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000047988.1				G	50724864	A	G	50724864	2	3	65	1	0	0	0	0	0	0	0	1	11799	291	11	4		4	PGBD3	10	50724864	Silent	SNP	A	TCGA-2G-AALG-01A-11D-A42Y-10	7065445	50724864	84809883	29	4660											
RRP12	23223	mdanderson.org	37	chr10	99133414	99133414	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgctcgctgatggccatGcccagcgtccgtgccagccc	5	6	13	17	4	0	1	0	1	0	0	2	2	1	2	5	2	4	2	5	2	0	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr10:99133414G>T	ENST00000370992.4	-	17	2055	c.1944C>A	c.(1942-1944)ggC>ggA	p.G648G	RRP12_ENST00000479481.1_5'Flank|RRP12_ENST00000536831.1_Silent_p.G366G|RRP12_ENST00000315563.6_Silent_p.G548G|RRP12_ENST00000414986.1_Silent_p.G587G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	648						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGATGGCCATGCCCAGCGTCC	0.632																																					p.G648G													.	.			0			c.C1944A												64	60	61					10																	99133414		2203	4300	6503	SO:0001819	synonymous_variant	23223	exon17			GGCCATGCCCAGC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1944C>A	10.37:g.99133414G>T			66	0.0151515152	1		50	0.06	3	NM_015179	10	0	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																					0.632	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049699.4		NM_015179		T	99133414	G	T	99133414	2	4	65	1	0	0	0	0	0	0	0	1	13709	1306	46	2		2	RRP12	10	99133414	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	48408550	99133414	36401333	30	4661											
MUC2	4583	hgsc.bcm.edu	37	chr11	1093462	1093462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaccccgacacccaccGgcacacagaccccaaccacg	12	0	5	24	3	0	1	0	0	0	1	0	2	0	1	9	1	2	1	9	1	2	0	rs564585015	byFrequency	TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr11:1093462G>A	ENST00000441003.2	+	30	5308	c.5281G>A	c.(5281-5283)Ggc>Agc	p.G1761S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.G49S|MUC2_ENST00000359061.5_Missense_Mutation_p.G1728S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)	gacacccaccggcacacagac	0.617													g|||	2	0.000399361	8e-04	0.0014	5008	,	,		26017	0		0	False		,,,				2504	0				p.G1761S													MUC2_ENST00000441003,NS,carcinoma,0,2	MUC2_ENST00000441003	0	2	0			c.G5281A												96	121	112					11																	1093462		2051	4069	6120	SO:0001583	missense	4583	exon30			CCCACCGGCACAC	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.5281G>A	11.37:g.1093462G>A	ENSP00000415183:p.Gly1761Ser		36	0	0		44	0.05	2	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	g	0.206	-1.040219	0.02013	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.17370	3.17;3.2;2.28	1.62	-3.24	0.05094	.	1741.130000	0.00447	U	0.000080	T	0.10766	0.0263	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31024	-0.9958	9	0.17369	T	0.5	.	8.5102	0.33213	0.7364:0.0:0.2636:0.0	.	1761	E7EUV1	.	S	1761;1728;49	ENSP00000415183:G1761S;ENSP00000351956:G1728S;ENSP00000331373:G49S	ENSP00000331373:G49S	G	+	1	0	MUC2	1083462	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.472000	0.00228	-2.335000	0.00629	-2.974000	0.00080	GGC			0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		A	1093462	G	A	1093462	3	1	65	1	0	0	0	0	1	0	0	0	9991	1116	39	1	5399	1	MUC2	11	1093462	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		1093462	133913054	31	4662											
PRMT3	10196	mdanderson.org	37	chr11	20409297	20409297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggggcaccacagccatgtGctcgttagcgtcaggcgcta	7	8	13	13	4	1	0	1	0	0	0	3	0	1	0	2	3	3	4	2	3	2	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr11:20409297G>T	ENST00000331079.6	+	1	222	c.5G>T	c.(4-6)tGc>tTc	p.C2F	PRMT3_ENST00000437750.2_Missense_Mutation_p.C2F	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	2					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						ACAGCCATGTGCTCGTTAGCG	0.746																																					p.C2F													.	.			0			c.G5T												13	14	14					11																	20409297		1779	3318	5097	SO:0001583	missense	10196	exon1			CCATGTGCTCGTT	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.5G>T	11.37:g.20409297G>T	ENSP00000331879:p.Cys2Phe		31	0	0		37	0.08	3	NM_001145166	2	0	0	B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360982	0.61403	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.26373	1.74;1.75	4.55	4.55	0.56014	.	.	.	.	.	T	0.34077	0.0885	N	0.22421	0.69	0.28695	N	0.904366	D;D	0.65815	0.994;0.995	P;P	0.60682	0.878;0.854	T	0.14924	-1.0455	9	0.87932	D	0	5.5154	14.1365	0.65291	0.0:0.0:1.0:0.0	.	2;2	O60678-2;O60678	.;ANM3_HUMAN	F	2	ENSP00000331879:C2F;ENSP00000397766:C2F	ENSP00000329586:C2F	C	+	2	0	PRMT3	20365873	0.998000	0.40836	1.000000	0.80357	0.644000	0.38419	4.031000	0.57267	2.346000	0.79739	0.563000	0.77884	TGC			0.746	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387489.1		NM_005788		T	20409297	G	T	20409297	3	4	65	1	0	0	0	0	1	0	0	0	12558	1319	46	2	7	2	PRMT3	11	20409297	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	19315835	20409297	114597219	32	4663											
ATN1	1822	broad.mit.edu	37	chr12	7045069	7045069	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcctcctggggccccTccccctcacccacagctcta	5	7	7	22	0	2	0	1	0	1	0	5	0	5	0	7	3	1	2	7	3	1	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr12:7045069T>C	ENST00000356654.4	+	5	876	c.639T>C	c.(637-639)ccT>ccC	p.P213P	ATN1_ENST00000396684.2_Silent_p.P213P	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	213					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)			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						CTGGGGCCCCTCCCCCTCACC	0.627																																					p.P213P													.	ATN1	95		0			c.T639C												36	38	37					12																	7045069		2203	4300	6503	SO:0001819	synonymous_variant	1822	exon5			GGCCCCTCCCCCT	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.639T>C	12.37:g.7045069T>C			125	0.032	4		260	0.06	15	NM_001007026	85	0.01	1	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																					0.627	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401948.2		NM_001940		C	7045069	T	C	7045069	2	2	65	1	0	0	0	0	0	0	0	1	1111	1538	54	4		4	ATN1	12	7045069	Silent	SNP	T	TCGA-2G-AALG-01A-11D-A42Y-10		7045069	126806826	33	4664											
NANOG	79923	broad.mit.edu	37	chr12	7947381	7947382	+	Frame_Shift_Del	DEL	AT	AT	-																															gagcaaccagacctggaacaAttcaacctggagcaaccaga																										TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr12:7947381_7947382delAT	ENST00000229307.4	+	4	827_828	c.608_609delAT	c.(607-609)aatfs	p.N203fs	NANOG_ENST00000526286.1_Frame_Shift_Del_p.N187fs	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	203	8 X repeats starting with a Trp in each unit.|Sufficient for transactivation activity. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		ACCTGGAACAATTCAACCTGGA	0.554																																					p.203_203del													.	NANOG	30		0			c.608_609del																																									SO:0001589	frameshift_variant	79923	exon4			GGAACAATTCAAC	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.608_609delAT	12.37:g.7947381_7947382delAT	ENSP00000229307:p.Asn203fs		279	0	0		732	0.02	17	NM_024865	0		0	D3DUU4|Q2TTG0|Q6JZS5	Frame_Shift_Del	DEL	ENST00000229307.4	37	CCDS31736.1																																																																																					0.554	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387480.2		NM_024865		-	7947382	AT	-	7947381	7	5	65	1	0	1	0	1	0	0	0	0	10166	101	4	0	622	0	NANOG	12	7947381	Frame_Shift_Del	DEL	AT	TCGA-2G-AALG-01A-11D-A42Y-10	902312	7947381	125904514	34	4665	7	2									
NANOG	79923	broad.mit.edu	37	chr12	7947386	7947387	+	Frame_Shift_Ins	INS	-	-	GT																															ccagacctggaacaattcaaINScctggagcaaccagacccag																										TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr12:7947386_7947387insGT	ENST00000229307.4	+	4	832_833	c.613_614insGT	c.(613-615)accfs	p.T205fs	NANOG_ENST00000526286.1_Frame_Shift_Ins_p.T189fs	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	205	8 X repeats starting with a Trp in each unit.|Sufficient for transactivation activity. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GAACAATTCAACCTGGAGCAAC	0.55																																					p.T205fs													.	NANOG	30		0			c.613_614insGT																																									SO:0001589	frameshift_variant	79923	exon4			AATTCAACCTGGA	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		Exception_encountered	12.37:g.7947386_7947387insGT	ENSP00000229307:p.Thr205fs		265	0	0		674	0.03	17	NM_024865	0		0	D3DUU4|Q2TTG0|Q6JZS5	Frame_Shift_Ins	INS	ENST00000229307.4	37	CCDS31736.1																																																																																					0.55	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387480.2		NM_024865		GT	7947387	-	GT	7947386	7	5	65	1	0	1	1	0	0	0	0	0	10166	43	2	0	627	0	NANOG	12	7947386	Frame_Shift_Ins	INS	-	TCGA-2G-AALG-01A-11D-A42Y-10	5	7947386	125904509	35	4666	7	2									
RNF6	6049	mdanderson.org	37	chr13	26793723	26793723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctcattttcatgatGattatggtcttgaggtaagg	8	18	9	6	0	5	3	2	3	3	0	6	3	5	3	0	3	0	1	0	3	2	6			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr13:26793723G>T	ENST00000381588.4	-	3	816	c.64C>A	c.(64-66)Cat>Aat	p.H22N	RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.H22N|RNF6_ENST00000381570.3_Missense_Mutation_p.H22N|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	22					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTTTCATGATGATTATGGTCT	0.393																																					p.H22N													.	.			0			c.C64A												217	207	210					13																	26793723		2203	4300	6503	SO:0001583	missense	6049	exon3			CATGATGATTATG	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.64C>A	13.37:g.26793723G>T	ENSP00000371000:p.His22Asn		113	0	0		124	0.04	5	NM_183043	0		0	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788861	0.31685	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.09255	3.0;3.0;3.0	4.71	4.71	0.59529	.	0.476775	0.19451	N	0.113923	T	0.09024	0.0223	L	0.40543	1.245	0.27340	N	0.956539	B;B	0.30973	0.18;0.302	B;B	0.30572	0.056;0.117	T	0.19063	-1.0317	10	0.22109	T	0.4	-8.1641	8.746	0.34587	0.1012:0.0:0.8988:0.0	.	22;22	Q9Y252;Q9BZP5	RNF6_HUMAN;.	N	22	ENSP00000342121:H22N;ENSP00000371000:H22N;ENSP00000370982:H22N	ENSP00000342121:H22N	H	-	1	0	RNF6	25691723	0.826000	0.29277	0.100000	0.21137	0.942000	0.58702	1.848000	0.39309	2.442000	0.82660	0.655000	0.94253	CAT			0.393	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044246.2		NM_005977		T	26793723	G	T	26793723	3	4	65	1	0	0	0	0	1	0	0	0	13521	1290	45	3	2005	3	RNF6	13	26793723	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		26793723	88376155	36	4667											
SERPINA1	5265	broad.mit.edu	37	chr14	94849140	94849140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactagcttcaggccctcGctgaggaacaggccattgcc	8	8	10	15	1	1	1	1	1	0	0	3	2	2	2	4	3	3	2	4	3	2	3	rs11558263		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr14:94849140G>T	ENST00000448921.1	-	4	1007	c.435C>A	c.(433-435)agC>agA	p.S145R	SERPINA1_ENST00000402629.1_Missense_Mutation_p.S145R|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S145R|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S145R|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S145R|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S145R|SERPINA1_ENST00000393088.4_Missense_Mutation_p.S145R|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S145R|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S145R	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	145					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)		TCAGGCCCTCGCTGAGGAACA	0.547																																					p.S145R													.	SERPINA1	51		0			c.C435A												69	67	67					14																	94849140		2203	4300	6503	SO:0001583	missense	5265	exon4			GCCCTCGCTGAGG	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.435C>A	14.37:g.94849140G>T	ENSP00000416066:p.Ser145Arg		128	0.0078125	1		140	0.04	5	NM_001127701	1314	0	0	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	7.121	0.577919	0.13686	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720;ENST00000556091	D;D;D;D;D;D;D;D;D;T;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-0.83;-1.63	5.8	-1.93	0.07594	Serpin domain (3);	1.424990	0.04236	N	0.336153	T	0.77075	0.4077	N	0.11341	0.13	0.09310	N	1	B;B	0.28605	0.217;0.011	B;B	0.37989	0.262;0.028	T	0.65442	-0.6167	10	0.52906	T	0.07	.	3.5456	0.07827	0.4189:0.1115:0.3771:0.0925	rs11558263;rs11558263	145;145	P01009-2;P01009	.;A1AT_HUMAN	R	145;145;145;145;145;145;145;145;145;59;145	ENSP00000390299:S145R;ENSP00000416066:S145R;ENSP00000408474:S145R;ENSP00000348068:S145R;ENSP00000376802:S145R;ENSP00000376803:S145R;ENSP00000385960:S145R;ENSP00000416354:S145R;ENSP00000386094:S145R;ENSP00000450561:S59R;ENSP00000452169:S145R	ENSP00000348068:S145R	S	-	3	2	SERPINA1	93918893	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.501000	0.00450	-0.770000	0.04614	-0.254000	0.11334	AGC			0.547	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317768.2		NM_001002235		T	94849140	G	T	94849140	3	4	65	1	0	0	0	0	1	0	0	0	14109	1078	38	1	837	1	SERPINA1	14	94849140	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		94849140	12500400	37	4668											
SLC25A29	123096	mdanderson.org	37	chr14	100758776	100758776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgcgcagcagcgtggaCgccagcccccgtgtgaagac	9	3	15	14	5	0	2	0	1	0	1	0	3	0	3	3	2	3	2	3	2	2	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr14:100758776C>T	ENST00000359232.3	-	4	1056	c.756G>A	c.(754-756)gcG>gcA	p.A252A	SLC25A29_ENST00000539621.1_Silent_p.A186A|RP11-638I2.6_ENST00000556458.1_lincRNA|AL157871.2_ENST00000553954.1_RNA|SLC25A29_ENST00000555927.1_Silent_p.A186A|SLC25A29_ENST00000554912.1_Silent_p.A186A|SLC25A29_ENST00000392908.3_3'UTR|SLC25A29_ENST00000556505.1_Silent_p.A186A	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	252						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GCAGCGTGGACGCCAGCCCCC	0.756																																					p.A252A													.	.			0			c.G756A												9	12	11					14																	100758776		2129	4187	6316	SO:0001819	synonymous_variant	123096	exon4			CGTGGACGCCAGC	AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"Solute carriers"	20116	protein-coding gene	gene with protein product		615064	"chromosome 14 open reading frame 69", "solute carrier family 25, member 29"	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.756G>A	14.37:g.100758776C>T			25	0	0		24	0.13	3	NM_001039355	9	0	0	A3KMR5|Q541V0	Silent	SNP	ENST00000359232.3	37	CCDS32156.1																																																																																					0.756	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000072449.3				T	100758776	C	T	100758776	2	4	65	1	0	0	0	0	0	0	0	1	14515	523	19	1		1	SLC25A29	14	100758776	Silent	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10	5909636	100758776	6590764	38	4669											
MESP2	145873	hgsc.bcm.edu	37	chr15	90320132	90320132	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggcggaggggcaggggCaagggcaggggcaggggcag	8	0	25	8	2	0	0	0	0	0	0	0	1	0	1	0	11	0	6	0	11	1	0	rs200021459	byFrequency	TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr15:90320132C>G	ENST00000341735.3	+	1	544	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	182	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ggggcaggggcaagggcaggg	0.786																																					p.Q182E													MESP2,NS,carcinoma,-2,1	MESP2	-2	1	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.C544G												3	3	3					15																	90320132		1229	2996	4225	SO:0001583	missense	145873	exon1			CAGGGGCAAGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.544C>G	15.37:g.90320132C>G	ENSP00000342392:p.Gln182Glu		23	0	0		16	0.13	2	NM_001039958	0		0	Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	C	1.101	-0.661169	0.03454	.	.	ENSG00000188095	ENST00000341735	T	0.81078	-1.45	0.798	-0.239	0.13050	.	.	.	.	.	T	0.57844	0.2081	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.39272	-0.9622	9	0.09338	T	0.73	.	5.309	0.15819	0.0:0.7609:0.0:0.2391	.	182	Q0VG99	MESP2_HUMAN	E	182	ENSP00000342392:Q182E	ENSP00000342392:Q182E	Q	+	1	0	MESP2	88121136	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.199000	0.09491	-0.121000	0.11787	-0.657000	0.03884	CAA			0.786	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416421.1		XM_085261		G	90320132	C	G	90320132	3	3	65	1	0	0	0	0	1	0	0	0	9499	711	25	5	546	5	MESP2	15	90320132	Missense_Mutation	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10		90320132	12211260	39	4670											
RHBDF1	64285	mdanderson.org	37	chr16	113155	113155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgccacacggaaggcaCggccacgggccagggggtct	8	4	15	14	3	2	0	0	0	2	0	2	1	2	1	3	6	1	1	3	6	1	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr16:113155C>T	ENST00000262316.6	-	5	630	c.488G>A	c.(487-489)cGt>cAt	p.R163H	RHBDF1_ENST00000454039.2_Missense_Mutation_p.R163H	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	163					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACGGAAGGCACGGCCACGGGC	0.662																																					p.R163H													.	.			0			c.G488A												28	31	30					16																	113155		2164	4251	6415	SO:0001583	missense	64285	exon5			AAGGCACGGCCAC	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.488G>A	16.37:g.113155C>T	ENSP00000262316:p.Arg163His		67	0	0		51	0.06	3	NM_022450	7	0	0	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.115241	0.77210	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.70986	-0.53;-0.53	5.54	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	M	0.76328	2.33	0.58432	D	0.999997	P;D;D	0.67145	0.94;0.977;0.996	B;P;D	0.66847	0.34;0.58;0.947	D	0.84849	0.0812	10	0.72032	D	0.01	-33.9089	14.7068	0.69198	0.1462:0.8538:0.0:0.0	.	163;186;163	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	H	163	ENSP00000262316:R163H;ENSP00000392133:R163H	ENSP00000262316:R163H	R	-	2	0	RHBDF1	53155	1.000000	0.71417	0.987000	0.45799	0.122000	0.20287	7.729000	0.84864	1.305000	0.44909	0.462000	0.41574	CGT			0.662	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000134178.2		NM_022450		T	113155	C	T	113155	3	4	65	1	0	0	0	0	1	0	0	0	13342	536	19	1	2135	1	RHBDF1	16	113155	Missense_Mutation	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10		113155	90241598	40	4671											
TRAF7	84231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2221328	2221328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcagctctgctgcagcgtcTtcaaagaccccgtgatcacc	8	9	9	15	2	5	2	3	1	2	1	5	2	5	2	3	0	4	3	3	0	1	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr16:2221328T>C	ENST00000326181.6	+	6	544	c.412T>C	c.(412-414)Ttc>Ctc	p.F138L		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	138					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CTGCAGCGTCTTCAAAGACCC	0.687																																					p.F138L													.	.			0			c.T412C												26	21	23					16																	2221328		2160	4254	6414	SO:0001583	missense	84231	exon6			AGCGTCTTCAAAG	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.412T>C	16.37:g.2221328T>C	ENSP00000318944:p.Phe138Leu		52	0	0		67	0.22	15	NM_032271	49	0.18	9	Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711652	0.68730	.	.	ENSG00000131653	ENST00000326181	D	0.83755	-1.76	5.58	4.47	0.54385	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	0.77039	0.4072	L	0.35542	1.07	0.58432	D	0.999995	P	0.34462	0.454	B	0.38156	0.266	T	0.76348	-0.2992	10	0.87932	D	0	-42.0853	11.3135	0.49377	0.1362:0.0:0.0:0.8638	.	138	Q6Q0C0	TRAF7_HUMAN	L	138	ENSP00000318944:F138L	ENSP00000318944:F138L	F	+	1	0	TRAF7	2161329	1.000000	0.71417	0.852000	0.33557	0.275000	0.26752	5.028000	0.64115	0.933000	0.37291	0.459000	0.35465	TTC			0.687	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250762.1		NM_032271		C	2221328	T	C	2221328	3	2	65	1	0	0	0	0	1	0	0	0	16470	1609	56	4	430	4	TRAF7	16	2221328	Missense_Mutation	SNP	T	TCGA-2G-AALG-01A-11D-A42Y-10	2108173	2221328	88133425	41	4672											
LOC100132247	100132247	broad.mit.edu	37	chr16	22545906	22545906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatatcaagacacctgcCgagcgtctgcgggggccgct	9	7	13	12	4	2	1	1	0	1	1	2	3	2	1	3	2	3	1	3	2	3	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr16:22545906C>T	ENST00000517539.1	+	8	1677	c.1602C>T	c.(1600-1602)gcC>gcT	p.A534A	NPIPB5_ENST00000424340.1_Silent_p.A534A|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	534	Pro-rich.					integral component of membrane (GO:0016021)											AGACACCTGCCGAGCGTCTGC	0.592																																					p.A534A													RP11-368J21.2_ENST00000424340,NS,carcinoma,0,2	.		2	0			c.C1602T												4	4	4					16																	22545906		650	1439	2089	SO:0001819	synonymous_variant	100132247	exon7			ACCTGCCGAGCGT		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.1602C>T	16.37:g.22545906C>T			51	0.0196078431	1		59	0.1	6	NM_001135865	70	0	0	B4DK13	Silent	SNP	ENST00000517539.1	37	CCDS45443.1																																																																																					0.592	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374343.2		NM_001135865		T	22545906	C	T	22545906	2	4	65	1	0	0	0	0	0	0	0	1	8883	639	23	1		1	LOC100132247	16	22545906	Silent	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10	20324578	22545906	67808847	42	4673											
PRSS36	146547	mdanderson.org	37	chr16	31154162	31154162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctcaggttcacgggcGtgcgcagctgcagcagcgcc	5	5	15	16	6	2	0	2	0	0	0	2	0	2	0	2	2	5	6	2	2	0	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr16:31154162G>T	ENST00000268281.4	-	9	1311	c.1253C>A	c.(1252-1254)aCg>aAg	p.T418K	PRSS36_ENST00000418068.2_Missense_Mutation_p.T418K|PRSS36_ENST00000569305.1_Missense_Mutation_p.T418K	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	418	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GTTCACGGGCGTGCGCAGCTG	0.756																																					p.T418K													.	.			0			c.C1253A												7	10	9					16																	31154162		2127	4197	6324	SO:0001583	missense	146547	exon9			ACGGGCGTGCGCA	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1253C>A	16.37:g.31154162G>T	ENSP00000268281:p.Thr418Lys		31	0	0		36	0.08	3	NM_001258290	0		0	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980248	0.34942	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88046	-2.33;-2.33	4.67	1.44	0.22558	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.73210	0.3558	L	0.31926	0.97	0.22601	N	0.998943	B;P;P	0.36354	0.042;0.549;0.549	B;B;B	0.32211	0.031;0.142;0.142	T	0.61481	-0.7054	9	0.05620	T	0.96	.	6.759	0.23530	0.1814:0.151:0.6676:0.0	.	418;418;418	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	K	418	ENSP00000268281:T418K;ENSP00000407160:T418K	ENSP00000268281:T418K	T	-	2	0	PRSS36	31061663	0.000000	0.05858	0.943000	0.38184	0.956000	0.61745	0.009000	0.13219	0.461000	0.27071	0.585000	0.79938	ACG			0.756	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000433542.1		NM_173502		T	31154162	G	T	31154162	3	4	65	1	0	0	0	0	1	0	0	0	12645	1145	40	1	1342	1	PRSS36	16	31154162	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	8608256	31154162	59200591	43	4674											
COG4	25839	hgsc.bcm.edu;mdanderson.org	37	chr16	70530257	70530257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgtgcatgatgttcacgGcacttgtcaccccgcgctgg	5	11	12	13	3	2	1	2	1	0	0	2	1	2	1	2	2	2	5	2	2	0	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr16:70530257G>A	ENST00000323786.5	-	12	1580	c.1559C>T	c.(1558-1560)gCc>gTc	p.A520V		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	516					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GATGTTCACGGCACTTGTCAC	0.552																																					p.A520V													.	.			0			c.C1559T												143	108	120					16																	70530257		2198	4300	6498	SO:0001583	missense	25839	exon12			TTCACGGCACTTG	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1559C>T	16.37:g.70530257G>A	ENSP00000315775:p.Ala520Val		102	0	0		140	0.04	6	NM_015386	113	0	0	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	G	35	5.592037	0.96590	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.47869	0.83	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.999	P;D;D	0.74348	0.851;0.983;0.972	T	0.70676	-0.4806	10	0.87932	D	0	-17.6636	20.5792	0.99380	0.0:0.0:1.0:0.0	.	426;515;516	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	V	520;516;178	ENSP00000315775:A520V	ENSP00000315775:A520V	A	-	2	0	COG4	69087758	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	9.623000	0.98386	2.873000	0.98535	0.561000	0.74099	GCC			0.552	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250326.3				A	70530257	G	A	70530257	3	1	65	1	0	0	0	0	1	0	0	0	3662	1203	42	2	842	2	COG4	16	70530257	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	39376095	70530257	19824496	44	4675											
TAF1C	9013	mdanderson.org	37	chr16	84213858	84213858	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccggggcggaggcagCagtcgggccagcaggagcgg	6	2	22	11	4	0	0	0	0	0	0	1	2	0	2	2	8	3	3	2	8	0	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr16:84213858C>T	ENST00000567759.1	-	12	1661	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	TAF1C_ENST00000378541.4_Silent_p.L493L|TAF1C_ENST00000541676.1_Silent_p.L400L|TAF1C_ENST00000566732.1_Silent_p.L467L|TAF1C_ENST00000341690.6_Silent_p.L400L|TAF1C_ENST00000570117.1_Silent_p.L161L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	493					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCGGAGGCAGCAGTCGGGCCA	0.706																																					p.L493L													.	.			0			c.G1479A												15	16	15					16																	84213858		2108	4154	6262	SO:0001819	synonymous_variant	9013	exon12			AGGCAGCAGTCGG	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1479G>A	16.37:g.84213858C>T			17	0	0		15	0.2	3	NM_005679	52	0	0	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	CCDS32496.1																																																																																					0.706	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000433045.2		NM_139353		T	84213858	C	T	84213858	2	4	65	1	0	0	0	0	0	0	0	1	15544	697	25	2		2	TAF1C	16	84213858	Silent	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10	13683601	84213858	6140895	45	4676											
PRPF8	10594	mdanderson.org	37	chr17	1576479	1576479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaaacactgagctgtgcGctccttagtaacctaaacca	13	8	8	12	1	0	1	0	1	0	0	1	2	1	2	3	1	5	3	3	1	5	3			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr17:1576479G>A	ENST00000572621.1	-	23	3935	c.3670C>T	c.(3670-3672)Cgc>Tgc	p.R1224C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1224C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1224	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)		TGAGCTGTGCGCTCCTTAGTA	0.537																																					p.R1224C													.	.			0			c.C3670T												125	100	108					17																	1576479		2203	4300	6503	SO:0001583	missense	10594	exon24			CTGTGCGCTCCTT	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.3670C>T	17.37:g.1576479G>A	ENSP00000460348:p.Arg1224Cys		97	0	0		85	0.05	4	NM_006445	9	0	0	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825815	0.71143	.	.	ENSG00000174231	ENST00000304992	T	0.46451	0.87	6.06	5.04	0.67666	Pre-mRNA-processing-splicing factor 8, U5-snRNA-binding (1);	0.047131	0.85682	D	0.000000	T	0.66752	0.2821	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.68435	-0.5409	10	0.45353	T	0.12	-6.6737	17.345	0.87308	0.0:0.0:0.8504:0.1496	.	1224	Q6P2Q9	PRP8_HUMAN	C	1224	ENSP00000304350:R1224C	ENSP00000304350:R1224C	R	-	1	0	PRPF8	1523229	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.954000	0.49113	2.879000	0.98667	0.650000	0.86243	CGC			0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438412.2				A	1576479	G	A	1576479	3	1	65	1	0	0	0	0	1	0	0	0	12595	1087	38	1	3417	1	PRPF8	17	1576479	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		1576479	79618731	46	4677											
ITGAE	3682	broad.mit.edu	37	chr17	3660286	3660286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggagccctcaccttccatgCtgatgatgttgtaccgcagt	7	11	10	13	2	1	2	1	2	0	0	2	3	2	3	4	1	3	4	4	1	1	3	rs545813409		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr17:3660286C>T	ENST00000263087.4	-	10	1261	c.1163G>A	c.(1162-1164)aGc>aAc	p.S388N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	388	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACCTTCCATGCTGATGATGTT	0.592																																					p.S388N	NSCLC(182;635 2928 8995 38788)												.	ITGAE	96		0			c.G1163A												151	138	142					17																	3660286		2203	4300	6503	SO:0001583	missense	3682	exon10			TCCATGCTGATGA	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1163G>A	17.37:g.3660286C>T	ENSP00000263087:p.Ser388Asn		85	0	0		104	0.04	4	NM_002208	0		0	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055086	0.19907	.	.	ENSG00000083457	ENST00000263087	T	0.78003	-1.14	4.59	-8.37	0.00976	.	.	.	.	.	T	0.47563	0.1452	N	0.10916	0.065	0.09310	N	1	B	0.27068	0.167	B	0.16722	0.016	T	0.34153	-0.9840	9	0.46703	T	0.11	.	1.563	0.02599	0.1251:0.197:0.2484:0.4295	.	388	P38570	ITAE_HUMAN	N	388	ENSP00000263087:S388N	ENSP00000263087:S388N	S	-	2	0	ITGAE	3607035	0.000000	0.05858	0.000000	0.03702	0.735000	0.41995	-0.704000	0.05058	-1.194000	0.02684	0.407000	0.27541	AGC			0.592	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438169.1		NM_002208		T	3660286	C	T	3660286	3	4	65	1	0	0	0	0	1	0	0	0	7900	797	28	2	2464	2	ITGAE	17	3660286	Missense_Mutation	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10	2083807	3660286	77534924	47	4678											
CAMTA2	23125	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	4883462	4883462	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccatatgtctggcccctCtgggggctgttgagaaaacg	7	10	12	12	1	2	1	0	1	2	1	3	2	3	1	4	3	1	2	4	3	3	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr17:4883462C>G	ENST00000348066.3	-	9	1278	c.1155G>C	c.(1153-1155)caG>caC	p.Q385H	CAMTA2_ENST00000358183.4_Missense_Mutation_p.Q385H|CAMTA2_ENST00000414043.3_Missense_Mutation_p.Q408H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.Q387H|CAMTA2_ENST00000572543.1_Missense_Mutation_p.Q390H|CAMTA2_ENST00000361571.5_Missense_Mutation_p.Q384H|CAMTA2_ENST00000571831.1_5'Flank	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	385					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCTGGCCCCTCTGGGGGCTGT	0.617																																					p.Q408H													.	CAMTA2	93		0			c.G1224C												28	33	32					17																	4883462		2187	4290	6477	SO:0001583	missense	23125	exon9			GCCCCTCTGGGGG	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1155G>C	17.37:g.4883462C>G	ENSP00000321813:p.Gln385His		213	0.0046948357	1		175	0.03	6	NM_001171167	4	0	0	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281848	0.40394	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	4.59	2.34	0.29019	.	0.354182	0.23187	N	0.050954	T	0.44644	0.1303	N	0.19112	0.55	0.26837	N	0.968468	D;D;D;D;D	0.64830	0.976;0.976;0.986;0.976;0.994	P;P;P;P;D	0.72075	0.459;0.556;0.66;0.459;0.976	T	0.21827	-1.0234	10	0.72032	D	0.01	-13.149	2.2616	0.04068	0.2648:0.4062:0.0:0.329	.	361;408;387;385;384	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	H	408;387;384;385;385	ENSP00000412886:Q408H;ENSP00000370712:Q387H;ENSP00000354828:Q384H;ENSP00000350910:Q385H;ENSP00000321813:Q385H	ENSP00000321813:Q385H	Q	-	3	2	CAMTA2	4824186	0.551000	0.26497	1.000000	0.80357	0.999000	0.98932	-0.211000	0.09332	1.027000	0.39758	0.655000	0.94253	CAG			0.617	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000216876.1		NM_015099		G	4883462	C	G	4883462	3	3	65	1	0	0	0	0	1	0	0	0	2616	912	32	5	2563	5	CAMTA2	17	4883462	Missense_Mutation	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10	1223176	4883462	76311748	48	4679											
CPD	1362	broad.mit.edu	37	chr17	28758789	28758789	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctcttttcccttataGgttctttggtggttaactac	5	21	6	9	0	2	0	0	0	2	0	4	0	4	0	2	3	2	2	2	3	4	10			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr17:28758789G>T	ENST00000225719.4	+	8	2093		c.e8-1		CPD_ENST00000543464.2_Splice_Site	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D							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						TTCCCTTATAGGTTCTTTGGT	0.348																																					.													.	CPD	89		0			c.2018-1G>T												146	127	133					17																	28758789		2203	4300	6503	SO:0001630	splice_region_variant	1362	exon8			CTTATAGGTTCTT	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.2018-1G>T	17.37:g.28758789G>T			96	0	0		129	0.04	5	NM_001304	0		0	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Splice_Site	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.251009	0.80135	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0987	0.89499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPD	25782915	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	8.243000	0.89821	2.576000	0.86940	0.563000	0.77884	.			0.348	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256214.3		NM_001304	Intron	T	28758789	G	T	28758789	5	4	65	1	0	0	0	0	0	0	1	0	3800	1014	35	3	2047	3	CPD	17	28758789	Splice_Site	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	23875327	28758789	52436421	49	4680											
CBX1	10951	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr17	46154242	46154242	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactctgagaatcccttcCactttaggaggtactccact	9	13	6	13	0	1	1	0	1	1	1	4	3	4	2	3	2	2	1	3	2	4	5			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr17:46154242C>T	ENST00000393408.3	-	2	605	c.125G>A	c.(124-126)tGg>tAg	p.W42*	CBX1_ENST00000225603.4_Nonsense_Mutation_p.W42*|CBX1_ENST00000495350.1_Nonsense_Mutation_p.W42*	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	42	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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						GAATCCCTTCCACTTTAGGAG	0.468																																					p.W42X	NSCLC(136;694 2497 38792 39034)												.	.			0			c.G125A												280	231	247					17																	46154242		2203	4300	6503	SO:0001587	stop_gained	10951	exon2			CCCTTCCACTTTA	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.125G>A	17.37:g.46154242C>T	ENSP00000377060:p.Trp42*		183	0	0		206	0.09	18	NM_006807	25	0	0	P23197	Nonsense_Mutation	SNP	ENST00000393408.3	37	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	C	36	5.814792	0.96982	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	.	.	.	5.85	5.85	0.93711	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6704	18.9246	0.92540	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000225603:W42X	W	-	2	0	CBX1	43509241	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.792000	0.85828	2.767000	0.95098	0.655000	0.94253	TGG			0.468	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318016.1		NM_006807		T	46154242	C	T	46154242	4	4	65	1	0	0	0	0	0	1	0	0	2719	595	21	3	448	3	CBX1	17	46154242	Nonsense_Mutation	SNP	C	TCGA-2G-AALG-01A-11D-A42Y-10	17395453	46154242	35040968	50	4681											
PHOSPHO1	162466	mdanderson.org	37	chr17	47301803	47301803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagaagtcgttggcgccGtcgcccacgtagaagaggcg	8	5	17	11	6	0	3	0	0	0	3	2	3	0	3	2	3	0	3	2	3	3	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr17:47301803G>A	ENST00000310544.4	-	3	736	c.609C>T	c.(607-609)gaC>gaT	p.D203D	PHOSPHO1_ENST00000514112.1_Silent_p.D228D|PHOSPHO1_ENST00000413580.1_Silent_p.D228D			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	203					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	CGTTGGCGCCGTCGCCCACGT	0.701																																					p.D228D													.	.			0			c.C684T												5	6	5					17																	47301803		2112	4127	6239	SO:0001819	synonymous_variant	162466	exon3			GGCGCCGTCGCCC	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.609C>T	17.37:g.47301803G>A			31	0	0		43	0.07	3	NM_001143804	0		0	E9PAM0|Q17RU6	Silent	SNP	ENST00000310544.4	37	CCDS11547.1																																																																																					0.701	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364467.2				A	47301803	G	A	47301803	2	1	65	1	0	0	0	0	0	0	0	1	11873	1136	40	1		1	PHOSPHO1	17	47301803	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	1147561	47301803	33893407	51	4682											
BZRAP1	9256	hgsc.bcm.edu	37	chr17	56386622	56386622	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcgtcctcctcttcctcTtcctcctcctccgggatgct	1	15	5	20	2	2	0	0	0	2	0	11	1	10	1	8	1	1	1	8	1	0	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr17:56386622T>C	ENST00000343736.4	-	22	4174	c.4011A>G	c.(4009-4011)gaA>gaG	p.E1337E	BZRAP1_ENST00000268893.6_Silent_p.E1277E|BZRAP1_ENST00000355701.3_Silent_p.E1337E			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1337	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					cctcttcctcttcctcctcct	0.597																																					p.E1337E													.	.			0			c.A4011G												58	62	61					17																	56386622		2203	4300	6503	SO:0001819	synonymous_variant	9256	exon22			TTCCTCTTCCTCC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4011A>G	17.37:g.56386622T>C			80	0	0		79	0.1	8	NM_004758	8	0.13	1	O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	CCDS11605.1																																																																																					0.597	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000443980.1		NM_004758		C	56386622	T	C	56386622	2	2	65	1	0	0	0	0	0	0	0	1	1579	1606	56	4		4	BZRAP1	17	56386622	Silent	SNP	T	TCGA-2G-AALG-01A-11D-A42Y-10	9084819	56386622	24808588	52	4683											
EVPL	2125	broad.mit.edu;mdanderson.org	37	chr17	74008164	74008164	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggctctggatctcctgcgTcagcctctgccagggaagaa	7	9	12	13	2	4	1	1	0	3	1	6	3	4	3	3	3	3	1	3	3	2	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr17:74008164T>G	ENST00000301607.3	-	19	2633	c.2380A>C	c.(2380-2382)Acg>Ccg	p.T794P	EVPL_ENST00000586740.1_Missense_Mutation_p.T816P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	794	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						ATCTCCTGCGTCAGCCTCTGC	0.632																																					p.T794P													.	EVPL	155		0			c.A2380C												39	37	38					17																	74008164		2203	4300	6503	SO:0001583	missense	2125	exon19			CCTGCGTCAGCCT	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.2380A>C	17.37:g.74008164T>G	ENSP00000301607:p.Thr794Pro		52	0	0		56	0.05	3	NM_001988	8	0.13	1	A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	T	8.425	0.847190	0.17034	.	.	ENSG00000167880	ENST00000301607	T	0.63580	-0.05	5.16	1.77	0.24775	.	1.070280	0.07176	N	0.853188	T	0.42131	0.1189	N	0.08118	0	0.09310	N	0.999998	B;B	0.25609	0.13;0.031	B;B	0.21708	0.036;0.024	T	0.36065	-0.9763	10	0.72032	D	0.01	-6.3195	8.0582	0.30617	0.0:0.4869:0.3792:0.1338	.	816;794	B7ZLH8;Q92817	.;EVPL_HUMAN	P	794	ENSP00000301607:T794P	ENSP00000301607:T794P	T	-	1	0	EVPL	71519759	0.930000	0.31532	0.576000	0.28549	0.091000	0.18340	0.116000	0.15561	0.076000	0.16826	0.448000	0.29417	ACG			0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449483.1		NM_001988		G	74008164	T	G	74008164	3	3	65	1	0	0	0	0	1	0	0	0	5299	1667	58	4	3737	4	EVPL	17	74008164	Missense_Mutation	SNP	T	TCGA-2G-AALG-01A-11D-A42Y-10	17621542	74008164	7187046	53	4684											
KISS1R	84634	mdanderson.org	37	chr19	920547	920547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctcgcacttccgacaGgccttccgccgcgtctgccc	3	8	11	19	5	1	0	0	0	1	0	4	1	3	0	5	2	1	2	5	2	0	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr19:920547G>T	ENST00000234371.5	+	5	1149	c.996G>T	c.(994-996)caG>caT	p.Q332H	KISS1R_ENST00000606939.1_3'UTR	NM_032551.4	NP_115940.2	Q969F8	KISSR_HUMAN	KISS1 receptor	332					activation of MAPKK activity (GO:0000186)|arachidonic acid secretion (GO:0050482)|calcium-mediated signaling (GO:0019722)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|positive regulation of hormone secretion (GO:0046887)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission (GO:0050806)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide binding (GO:0042923)|neuropeptide receptor activity (GO:0008188)			cervix(1)|kidney(1)|ovary(1)|pancreas(1)|skin(1)	5		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)		ACTTCCGACAGGCCTTccgcc	0.746																																					p.Q332H													.	.			0			c.G996T												26	23	24					19																	920547		2201	4300	6501	SO:0001583	missense	84634	exon5			CCGACAGGCCTTC	AB051065	CCDS12049.1	19p13.3	2012-08-10	2006-02-15	2006-02-15	ENSG00000116014	ENSG00000116014		"GPCR / Class A : RF amide peptide receptors"	4510	protein-coding gene	gene with protein product		604161	"G protein-coupled receptor 54"	GPR54		10100623	Standard	NM_032551		Approved	HOT7T175, AXOR12	uc002lqk.4	Q969F8		ENST00000234371.5:c.996G>T	19.37:g.920547G>T	ENSP00000234371:p.Gln332His		22	0	0		13	0.23	3	NM_032551	1	0	0	A5D8U2|B2RTV1|Q96QG0	Missense_Mutation	SNP	ENST00000234371.5	37	CCDS12049.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304433	0.60305	.	.	ENSG00000116014	ENST00000234371	T	0.38240	1.15	4.66	3.59	0.41128	.	0.220296	0.35970	N	0.002871	T	0.30823	0.0777	N	0.24115	0.695	0.34862	D	0.742726	P	0.44986	0.847	P	0.45913	0.497	T	0.48246	-0.9052	10	0.72032	D	0.01	.	12.4977	0.55937	0.0:0.17:0.8299:0.0	.	332	Q969F8	KISSR_HUMAN	H	332	ENSP00000234371:Q332H	ENSP00000234371:Q332H	Q	+	3	2	KISS1R	871547	1.000000	0.71417	0.933000	0.37362	0.329000	0.28539	2.550000	0.45811	0.942000	0.37525	0.549000	0.68633	CAG			0.746	KISS1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458217.3		NM_032551		T	920547	G	T	920547	3	4	65	1	0	0	0	0	1	0	0	0	8343	991	35	3	1014	3	KISS1R	19	920547	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		920547	58208436	54	4685											
MATK	4145	mdanderson.org	37	chr19	3784375	3784375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaccacgtcgcccttgcgGaaggccagctcccctggctt	5	8	12	16	3	0	1	0	1	0	0	2	2	1	2	5	3	2	2	5	3	1	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr19:3784375G>T	ENST00000310132.6	-	4	605	c.207C>A	c.(205-207)ttC>ttA	p.F69L	MATK_ENST00000395045.2_Missense_Mutation_p.F70L|MATK_ENST00000585778.1_Missense_Mutation_p.F69L|MATK_ENST00000395040.2_Missense_Mutation_p.F28L	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	69	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCTTGCGGAAGGCCAGCT	0.716																																					p.F70L													.	.			0			c.C210A												21	23	22					19																	3784375		2200	4298	6498	SO:0001583	missense	4145	exon4			CTTGCGGAAGGCC	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.207C>A	19.37:g.3784375G>T	ENSP00000308734:p.Phe69Leu		31	0	0		36	0.08	3	NM_002378	3	0	0	B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.573554	0.86542	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.24151	1.87;1.87;1.87	4.81	2.66	0.31614	Src homology-3 domain (4);	0.279023	0.36409	N	0.002606	T	0.31734	0.0806	L	0.53249	1.67	0.36163	D	0.84821	D;D;D	0.60160	0.987;0.987;0.987	P;P;P	0.52909	0.713;0.713;0.713	T	0.31641	-0.9936	10	0.56958	D	0.05	-22.7345	7.4783	0.27390	0.2729:0.0:0.7271:0.0	.	69;70;69	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	L	70;69;28	ENSP00000378485:F70L;ENSP00000308734:F69L;ENSP00000378481:F28L	ENSP00000308734:F69L	F	-	3	2	MATK	3735375	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.020000	0.49643	0.431000	0.26258	0.457000	0.33378	TTC			0.716	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000453639.1		NM_139355		T	3784375	G	T	3784375	3	4	65	1	0	0	0	0	1	0	0	0	9348	1165	41	3	1360	3	MATK	19	3784375	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	2863828	3784375	55344608	55	4686											
ICAM3	3385	mdanderson.org	37	chr19	10445899	10445899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgtcgcattcagcatctgGtcccccagcgccaggtagac	8	8	10	15	2	2	1	1	0	1	1	4	1	3	1	3	2	2	3	3	2	1	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr19:10445899G>T	ENST00000160262.5	-	4	988	c.780C>A	c.(778-780)gaC>gaA	p.D260E	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.D183E	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	260	Ig-like C2-type 3.				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)			TCAGCATCTGGTCCCCCAGCG	0.657																																					p.D260E													.	.			0			c.C780A												104	113	110					19																	10445899		2203	4300	6503	SO:0001583	missense	3385	exon4			CATCTGGTCCCCC		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.780C>A	19.37:g.10445899G>T	ENSP00000160262:p.Asp260Glu		70	0	0		49	0.06	3	NM_002162	36	0	0	Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121525	0.56613	.	.	ENSG00000076662	ENST00000160262	T	0.03413	3.94	5.15	2.88	0.33553	Immunoglobulin-like fold (1);	1.024290	0.07794	N	0.955388	T	0.04815	0.0130	L	0.42632	1.34	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.34378	-0.9831	10	0.48119	T	0.1	-12.1809	7.6719	0.28463	0.0945:0.1658:0.7398:0.0	.	260	P32942	ICAM3_HUMAN	E	260	ENSP00000160262:D260E	ENSP00000160262:D260E	D	-	3	2	ICAM3	10306899	0.226000	0.23696	0.558000	0.28319	0.416000	0.31233	1.433000	0.34947	1.295000	0.44724	0.462000	0.41574	GAC			0.657	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451234.1				T	10445899	G	T	10445899	3	4	65	1	0	0	0	0	1	0	0	0	7496	1252	44	3	879	3	ICAM3	19	10445899	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	6661524	10445899	48683084	56	4687											
SMARCA4	6597	mdanderson.org	37	chr19	11129657	11129657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccaactgggcgtacgaGtttgacaagtgggccccctc	7	9	12	13	2	0	1	0	1	0	0	2	2	1	1	3	2	2	2	3	2	3	2	rs375459615		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr19:11129657G>T	ENST00000429416.3	+	18	2744	c.2463G>T	c.(2461-2463)gaG>gaT	p.E821D	SMARCA4_ENST00000444061.3_Missense_Mutation_p.E821D|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E821D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E821D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E821D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E821D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E821D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E821D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E821D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	821	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)				GGGCGTACGAGTTTGACAAGT	0.562			"F, N, Mis"		NSCLC																																p.E821D				Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	SMARCA4,NS,lymphoid_neoplasm,+2,3	SMARCA4	2	3	1	Unknown(1)	lung(1)	c.G2463T												175	149	158					19																	11129657		2203	4300	6503	SO:0001583	missense	6597	exon17			GTACGAGTTTGAC	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.2463G>T	19.37:g.11129657G>T	ENSP00000395654:p.Glu821Asp		159	0	0		126	0.04	5	NM_003072	32	0	0	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786396	0.49997	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	4.95	0.604	0.17547	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.99789	4.78	0.47819	D	0.999521	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.998;1.0;1.0	D	0.96391	0.9289	10	0.87932	D	0	-27.2359	8.8713	0.35318	0.5561:0.0:0.4438:0.0	.	821;821;821;821;821;821;821	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	D	821;821;885;821;821;821;821;821	ENSP00000395654:E821D;ENSP00000350720:E821D;ENSP00000343896:E821D;ENSP00000445036:E821D;ENSP00000392837:E821D;ENSP00000397783:E821D;ENSP00000414727:E821D	ENSP00000343896:E821D	E	+	3	2	SMARCA4	10990657	0.358000	0.24947	0.957000	0.39632	0.288000	0.27193	-0.180000	0.09754	-0.128000	0.11641	-0.469000	0.05056	GAG			0.562	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000452638.2		NM_003072		T	11129657	G	T	11129657	3	4	65	1	0	0	0	0	1	0	0	0	14793	1020	36	3	2525	3	SMARCA4	19	11129657	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	683758	11129657	47999326	57	4688											
MAN2B1	4125	mdanderson.org	37	chr19	12776540	12776540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cataaaagtactggtccacgGttttgagccagcccacgtca	11	9	9	12	2	1	1	1	1	0	0	2	1	2	1	3	2	3	2	3	2	3	4	rs566259319		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr19:12776540G>T	ENST00000456935.2	-	2	279	c.239C>A	c.(238-240)aCc>aAc	p.T80N	WDR83_ENST00000418543.3_5'Flank|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.T77N|MAN2B1_ENST00000221363.4_Missense_Mutation_p.T80N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	80					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						CTGGTCCACGGTTTTGAGCCA	0.572																																					p.T80N													.	.			0			c.C239A												133	102	113					19																	12776540		2203	4300	6503	SO:0001583	missense	4125	exon2			TCCACGGTTTTGA		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.239C>A	19.37:g.12776540G>T	ENSP00000395473:p.Thr80Asn		58	0	0		52	0.06	3	NM_000528	32	0	0	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433920	0.96150	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.82255	-1.59;-1.59	5.76	5.76	0.90799	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.51477	D	0.000098	D	0.92459	0.7606	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.978;0.981	D	0.93370	0.6734	10	0.87932	D	0	-29.5684	17.4644	0.87628	0.0:0.0:1.0:0.0	.	80;80	G5E928;O00754	.;MA2B1_HUMAN	N	80;19;80	ENSP00000395473:T80N;ENSP00000221363:T80N	ENSP00000221363:T80N	T	-	2	0	MAN2B1	12637540	1.000000	0.71417	0.948000	0.38648	0.944000	0.59088	9.363000	0.97131	2.728000	0.93425	0.655000	0.94253	ACC			0.572	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000344062.1				T	12776540	G	T	12776540	3	4	65	1	0	0	0	0	1	0	0	0	9232	1261	44	3	2888	3	MAN2B1	19	12776540	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	1646883	12776540	46352443	58	4689											
CIC	23152	mdanderson.org	37	chr19	42791528	42791528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaccgcccggaaaacgtcGgacccagtccctcagtgccc	8	6	9	18	4	2	0	1	0	1	0	4	2	3	2	5	2	3	0	5	2	3	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr19:42791528G>T	ENST00000575354.2	+	4	549	c.509G>T	c.(508-510)cGg>cTg	p.R170L	CIC_ENST00000572681.2_Missense_Mutation_p.R1079L|CIC_ENST00000160740.3_Missense_Mutation_p.R170L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGAAAACGTCGGACCCAGTCC	0.597			"Mis, F, S"		oligodendroglioma																																p.R170L				Rec	yes		19	19q13.2	23152	capicua homolog		O	.	.			0			c.G509T												118	116	117					19																	42791528		2203	4300	6503	SO:0001583	missense	23152	exon4			AACGTCGGACCCA	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.509G>T	19.37:g.42791528G>T	ENSP00000458663:p.Arg170Leu		49	0	0		51	0.06	3	NM_015125	8	0	0	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570196	0.65765	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	T	0.64103	0.2568	L	0.27053	0.805	0.54753	D	0.999987	D	0.76494	0.999	D	0.79784	0.993	T	0.68777	-0.5319	8	0.87932	D	0	-13.7371	14.5137	0.67804	0.0:0.0:1.0:0.0	.	170	Q96RK0	CIC_HUMAN	L	170	.	ENSP00000160740:R170L	R	+	2	0	CIC	47483368	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.335000	0.72949	2.284000	0.76573	0.555000	0.69702	CGG			0.597	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438532.2				T	42791528	G	T	42791528	3	4	65	1	0	0	0	0	1	0	0	0	3426	1116	39	1	523	1	CIC	19	42791528	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	30014988	42791528	16337455	59	4690											
TMC4	147798	mdanderson.org	37	chr19	54675697	54675697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaagggtgagggtcctGcagctctgtctgggtgactt	5	10	17	9	1	2	2	0	2	2	0	3	3	3	3	2	4	2	2	2	4	1	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr19:54675697G>T	ENST00000376591.4	-	2	384	c.253C>A	c.(253-255)Cag>Aag	p.Q85K	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.Q79K	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	85					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGGGTCCTGCAGCTCTGTC	0.682																																					p.Q85K													.	.			0			c.C253A												124	120	122					19																	54675697		2203	4300	6503	SO:0001583	missense	147798	exon2			GGTCCTGCAGCTC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.253C>A	19.37:g.54675697G>T	ENSP00000365776:p.Gln85Lys		76	0	0		47	0.09	4	NM_001145303	62	0.02	1	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	g	10.57	1.388311	0.25118	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.72051	-0.61;-0.62	3.55	2.47	0.30058	.	2.023590	0.02500	N	0.090405	T	0.64659	0.2618	L	0.52573	1.65	0.33391	D	0.576129	B;B	0.20887	0.049;0.009	B;B	0.25614	0.016;0.062	T	0.51593	-0.8686	10	0.05959	T	0.93	-0.5042	9.1447	0.36925	0.0:0.2253:0.7747:0.0	.	85;79	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	K	79;85	ENSP00000301187:Q79K;ENSP00000365776:Q85K	ENSP00000301187:Q79K	Q	-	1	0	TMC4	59367509	0.086000	0.21541	0.481000	0.27354	0.379000	0.30106	2.282000	0.43461	0.634000	0.30469	0.430000	0.28490	CAG			0.682	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000156164.2				T	54675697	G	T	54675697	3	4	65	1	0	0	0	0	1	0	0	0	16010	1328	46	2	1941	2	TMC4	19	54675697	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	11884169	54675697	4453286	60	4691											
ZNF628	89887	ucsc.edu	37	chr19	55994302	55994302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcgcagacctccaaccTgcggcagcaccagcgcgtgc	7	5	11	18	5	0	1	0	0	0	1	2	1	1	1	4	1	5	3	4	1	1	1			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr19:55994302T>C	ENST00000598519.1	+	3	2295	c.1742T>C	c.(1741-1743)cTg>cCg	p.L581P	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.L577P|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	581					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		ACCTCCAACCTGCGGCAGCAC	0.706																																					p.L581P													.	ZNF628	75		0			c.T1742C												22	24	24					19																	55994302		2202	4293	6495	SO:0001583	missense	89887	exon3			CCAACCTGCGGCA	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1742T>C	19.37:g.55994302T>C	ENSP00000469591:p.Leu581Pro		27	0	0		34	0.12	4	NM_033113	8	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	16.38	3.107901	0.56291	.	.	ENSG00000197483	ENST00000391718	T	0.53857	0.6	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.207576	0.22422	N	0.060280	T	0.77294	0.4109	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82263	-0.0544	10	0.87932	D	0	-5.1587	11.0086	0.47649	0.0:0.0:0.0:1.0	.	577	Q5EBL2	ZN628_HUMAN	P	577	ENSP00000375598:L577P	ENSP00000375598:L577P	L	+	2	0	ZNF628	60686114	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.569000	0.82380	1.779000	0.52309	0.454000	0.30748	CTG			0.706	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317934.2		XM_058964		C	55994302	T	C	55994302	3	2	65	1	0	0	0	0	1	0	0	0	18075	1580	55	4	1732	4	ZNF628	19	55994302	Missense_Mutation	SNP	T	TCGA-2G-AALG-01A-11D-A42Y-10	1318605	55994302	3134681	61	4692											
ZNF814	730051	bcgsc.ca	37	chr19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattctccacattcatAaggtcttttcccagtgtgaa	10	13	5	13	0	3	1	1	1	2	0	5	1	4	1	3	1	0	0	3	1	2	5			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	324					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCACATTCATAAGGTCTTTTC	0.358																																					p.Y324H													.	ZNF814	93		0			c.T970C												15	12	13					19																	58385788		688	1564	2252	SO:0001583	missense	730051	exon3			ATTCATAAGGTCT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.970T>C	19.37:g.58385788A>G	ENSP00000410545:p.Tyr324His		109	0	0		113	0.06	7	NM_001144989	0		0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.644	0.896732	0.17686	.	.	ENSG00000204514	ENST00000435989	T	0.21734	1.99	2.27	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.33485	1.01	0.09310	N	1	B	0.27498	0.18	B	0.22386	0.039	T	0.24368	-1.0162	9	0.72032	D	0.01	.	7.1587	0.25652	0.6135:0.0:0.3865:0.0	.	324	B7Z6K7	ZN814_HUMAN	H	324	ENSP00000410545:Y324H	ENSP00000410545:Y324H	Y	-	1	0	ZNF814	63077600	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.130000	0.15850	-0.181000	0.10619	0.113000	0.15668	TAT			0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708		G	58385788	A	G	58385788	3	3	65	1	0	0	0	0	1	0	0	0	18199	362	13	4	1601	4	ZNF814	19	58385788	Missense_Mutation	SNP	A	TCGA-2G-AALG-01A-11D-A42Y-10	2391486	58385788	743195	62	4693											
XRN2	22803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	21319698	21319698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaggacagttttagaagacGacagaaagaaaaaagaaaga	22	6	10	3	1	0	6	0	0	0	6	0	8	0	7	0	1	0	1	0	1	8	3			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr20:21319698G>A	ENST00000377191.3	+	14	1345	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	XRN2_ENST00000430571.2_Missense_Mutation_p.R341Q|XRN2_ENST00000539513.1_Missense_Mutation_p.R363Q	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	417					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						TTTAGAAGACGACAGAAAGAA	0.303																																					p.R417Q													.	.			0			c.G1250A												97	110	105					20																	21319698		2202	4298	6500	SO:0001583	missense	22803	exon14			GAAGACGACAGAA	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.1250G>A	20.37:g.21319698G>A	ENSP00000366396:p.Arg417Gln		54	0	0		60	0.27	16	NM_012255	24	0.21	5	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689435	0.88735	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.33438	1.43;1.41;1.41	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	P	0.57057	0.812	T	0.55811	-0.8082	10	0.41790	T	0.15	-9.9748	16.89	0.86084	0.0:0.0:1.0:0.0	.	417	Q9H0D6	XRN2_HUMAN	Q	417;341;363	ENSP00000366396:R417Q;ENSP00000413548:R341Q;ENSP00000441113:R363Q	ENSP00000366396:R417Q	R	+	2	0	XRN2	21267698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.427000	0.73378	2.416000	0.81992	0.655000	0.94253	CGA			0.303	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078273.2		NM_012255		A	21319698	G	A	21319698	3	1	65	1	0	0	0	0	1	0	0	0	17484	1058	37	1	1304	1	XRN2	20	21319698	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		21319698	41705822	63	4694											
TXNRD2	10587	mdanderson.org	37	chr22	19885586	19885586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagccgcggagggggatGctgcgcatcatgatggtggt	7	8	18	8	4	1	1	1	1	0	0	2	4	1	3	1	5	3	2	1	5	1	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr22:19885586G>A	ENST00000400521.1	-	10	756	c.750C>T	c.(748-750)agC>agT	p.S250S	TXNRD2_ENST00000542719.1_Silent_p.S220S|TXNRD2_ENST00000535882.1_Silent_p.S249S|TXNRD2_ENST00000334363.9_Silent_p.S250S|TXNRD2_ENST00000400518.1_Silent_p.S220S|TXNRD2_ENST00000400519.1_Silent_p.S249S|TXNRD2_ENST00000491939.1_5'UTR	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	250					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGAGGGGGATGCTGCGCATCA	0.657																																					.													.	.			0			.												26	31	29					22																	19885586		2071	4168	6239	SO:0001819	synonymous_variant	10587	.			GGGGATGCTGCGC	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.750C>T	22.37:g.19885586G>A			54	0	0		47	0.06	3	.	45	0	0	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	CCDS42981.1																																																																																					0.657	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding		OTTHUMT00000314903.3		NM_006440		A	19885586	G	A	19885586	2	1	65	1	0	0	0	0	0	0	0	1	16832	1310	46	2		2	TXNRD2	22	19885586	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		19885586	31418980	64	4695											
TOP3B	8940	mdanderson.org	37	chr22	22326986	22326986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggccagccccacgcacctGcaggaacttcaccatgttca	10	6	8	17	1	2	0	2	0	0	0	2	1	2	1	5	2	3	3	5	2	1	2			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chr22:22326986G>T	ENST00000398793.2	-	4	741	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	TOP3B_ENST00000357179.5_Missense_Mutation_p.Q103K|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	103	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				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)		CCACGCACCTGCAGGAACTTC	0.577											OREG0026347	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q103K													.	.			0			c.C307A												126	91	103					22																	22326986		2203	4300	6503	SO:0001583	missense	8940	exon4			GCACCTGCAGGAA	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.307C>A	22.37:g.22326986G>T	ENSP00000381773:p.Gln103Lys		92	0	0	755	48	0.06	3	NM_003935	10	0	0	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684905	0.47991	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393;ENST00000437929;ENST00000430142	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.0	5.0	0.66597	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	N	0.10760	0.04	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.14476	-1.0471	10	0.16896	T	0.51	-1.2404	18.484	0.90821	0.0:0.0:1.0:0.0	.	103	O95985	TOP3B_HUMAN	K	103	ENSP00000349705:Q103K;ENSP00000381773:Q103K;ENSP00000390977:Q103K;ENSP00000402622:Q103K;ENSP00000414538:Q103K	ENSP00000349705:Q103K	Q	-	1	0	TOP3B	20656986	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.361000	0.97122	2.592000	0.87571	0.563000	0.77884	CAG			0.577	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320251.1		NM_003935		T	22326986	G	T	22326986	3	4	65	1	0	0	0	0	1	0	0	0	16392	1328	46	2	2341	2	TOP3B	22	22326986	Missense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	2441400	22326986	28977580	65	4696											
PPP1R3F	89801	mdanderson.org	37	chrX	49142704	49142704	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggagggctccacagatGgagggatgtcccccagccat	8	6	16	11	0	0	1	0	0	0	1	2	4	2	4	4	5	1	1	4	5	0	0			TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chrX:49142704G>T	ENST00000055335.6	+	4	1568	c.1552G>T	c.(1552-1554)Gga>Tga	p.G518*	PPP1R3F_ENST00000376188.1_Nonsense_Mutation_p.G172*|PPP1R3F_ENST00000495799.1_Nonsense_Mutation_p.G172*|PPP1R3F_ENST00000438316.1_Nonsense_Mutation_p.G189*|PPP1R3F_ENST00000466508.1_Nonsense_Mutation_p.G172*	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	518					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTCCACAGATGGAGGGATGTC	0.682																																					p.G518X													.	.			0			c.G1552T												17	15	16					X																	49142704		2199	4286	6485	SO:0001587	stop_gained	89801	exon4			ACAGATGGAGGGA		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1552G>T	X.37:g.49142704G>T	ENSP00000055335:p.Gly518*		35	0	0		50	0.06	3	NM_033215	2	0	0	A2VDJ8|B3KPW2|E9PCM3	Nonsense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087480	0.76642	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	.	.	.	4.48	3.53	0.40419	.	0.272678	0.26836	N	0.022260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.1056	7.9628	0.30081	0.0:0.0:0.7565:0.2435	.	.	.	.	X	172;189;518;172;172	.	ENSP00000055335:G518X	G	+	1	0	PPP1R3F	49029648	1.000000	0.71417	0.927000	0.36925	0.192000	0.23643	1.474000	0.35398	2.177000	0.69029	0.429000	0.28392	GGA			0.682	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000060819.2		NM_033215		T	49142704	G	T	49142704	4	4	65	1	0	0	0	0	0	1	0	0	12395	1349	47	3	1566	3	PPP1R3F	23	49142704	Nonsense_Mutation	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10		49142704	106127856	66	4697											
SLC6A8	6535	broad.mit.edu	37	chrX	152960296	152960296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccatgctgtgcgtgccGctgcacctcctgggctgcct	2	11	11	17	2	0	0	0	0	0	0	3	0	3	0	6	1	5	4	6	1	0	0	rs2314070		TCGA-2G-AALG-01A-11D-A42Y-10	TCGA-2G-AALG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f29b7c0c-30ed-4d15-9ee2-148852f3e573	6f3fee73-6a59-47ea-891c-e9946680a400	g.chrX:152960296G>A	ENST00000253122.5	+	12	2195	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	SLC6A8_ENST00000430077.2_Silent_p.P458P|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	573					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)	TGTGCGTGCCGCTGCACCTCC	0.662													G|||	1	0.000264901	0	0.0014	3775	,	,		7384	0		0	False		,,,				2504	0				p.P573P													.	SLC6A8	34		0			c.G1719A												29	25	26					X																	152960296		2202	4298	6500	SO:0001819	synonymous_variant	6535	exon12			CGTGCCGCTGCAC		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.1719G>A	X.37:g.152960296G>A			46	0	0		57	0.05	3	NM_005629	43	0.09	4	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	CCDS14726.1																																																																																					0.662	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061003.1				A	152960296	G	A	152960296	2	1	65	1	0	0	0	0	0	0	0	1	14713	1074	38	1		1	SLC6A8	23	152960296	Silent	SNP	G	TCGA-2G-AALG-01A-11D-A42Y-10	103817592	152960296	2310264	67	4698											
SLC45A1	50651	mdanderson.org	37	chr1	8385880	8385880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtttctctgtgtccagggGcactgctgggcctctcgctc	2	14	12	13	1	2	0	0	0	2	0	6	0	3	0	2	3	1	4	2	3	0	2			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr1:8385880G>T	ENST00000471889.1	+	4	878	c.493G>T	c.(493-495)Gca>Tca	p.A165S	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A199S|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A165S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	165					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTCCAGGGGCACTGCTGGG	0.567																																					p.A165S													.	.			0			c.G493T												67	64	65					1																	8385880		2203	4300	6503	SO:0001583	missense	50651	exon3			CCAGGGGCACTGC	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.493G>T	1.37:g.8385880G>T	ENSP00000418096:p.Ala165Ser		28	0	0		23	0.13	3	NM_001080397	0		0	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744830	0.69418	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.92858	-3.12;-3.12;-3.12	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	L	0.39020	1.185	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94236	0.7481	10	0.56958	D	0.05	-28.3991	18.4623	0.90743	0.0:0.0:1.0:0.0	.	165	Q9Y2W3	S45A1_HUMAN	S	165;199;165	ENSP00000418096:A165S;ENSP00000366699:A199S;ENSP00000289877:A165S	ENSP00000289877:A165S	A	+	1	0	SLC45A1	8308467	1.000000	0.71417	0.998000	0.56505	0.584000	0.36387	7.756000	0.85195	2.595000	0.87683	0.655000	0.94253	GCA			0.567	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001245.5				T	8385880	G	T	8385880	3	4	66	1	0	0	0	0	1	0	0	0	14663	1203	42	2	503	2	SLC45A1	1	8385880	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		8385880	240864741	1	4699											
LHCGR	3973	mdanderson.org	37	chr2	48982764	48982764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcggcggctgcagcAgcagcagcagcttcagcagc	8	4	16	13	2	1	0	1	0	0	0	1	0	1	0	0	3	9	9	0	3	0	1	rs4539842		TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr2:48982764A>T	ENST00000294954.7	-	1	68	c.47T>A	c.(46-48)cTg>cAg	p.L16Q	LHCGR_ENST00000401907.1_Missense_Mutation_p.L16Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.L16Q|LHCGR_ENST00000403273.1_Missense_Mutation_p.L16Q|LHCGR_ENST00000344775.3_Missense_Mutation_p.L16Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	16					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	cggctgcagcagcagcagcag	0.721																																					p.L16Q													.	.			0			c.T47A												1	3	2					2																	48982764		911	1841	2752	SO:0001583	missense	3973	exon1			TGCAGCAGCAGCA		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.47T>A	2.37:g.48982764A>T	ENSP00000294954:p.Leu16Gln		13	0	0		11	0.27	3	NM_000233	0		0	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191104	0.58017	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	4.18	4.18	0.49190	.	1.158800	0.06471	N	0.731104	D	0.83594	0.5288	L	0.29908	0.895	0.28253	N	0.925194	D	0.55172	0.97	P	0.51453	0.67	T	0.72527	-0.4266	9	.	.	.	.	9.5009	0.39017	1.0:0.0:0.0:0.0	rs4539842	16	P22888	LSHR_HUMAN	Q	16	ENSP00000344301:L16Q;ENSP00000294954:L16Q;ENSP00000386033:L16Q;ENSP00000385847:L16Q;ENSP00000385406:L16Q	.	L	-	2	0	LHCGR	48836268	0.561000	0.26578	0.862000	0.33874	0.243000	0.25628	1.821000	0.39041	1.736000	0.51660	0.421000	0.28195	CTG			0.721	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251364.4		NM_000233.3		T	48982764	A	T	48982764	3	4	66	1	0	0	0	0	1	0	0	0	8777	188	7	5	2096	5	LHCGR	2	48982764	Missense_Mutation	SNP	A	TCGA-2G-AALN-01A-11D-A42Y-10		48982764	194216609	2	4700											
CHRNA1	1134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	175614728	175614728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgagcggtggtgtgtgttGatgacgatgacagtgatgat	8	12	18	3	2	0	6	0	6	0	0	0	7	0	6	0	3	1	1	0	3	0	1	rs141733086	byFrequency	TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr2:175614728G>A	ENST00000261007.5	-	8	1089	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	CHRNA1_ENST00000348749.5_Silent_p.I316I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.I234I|CHRNA1_ENST00000409219.1_Silent_p.I316I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	341					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|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)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GGTGTGTGTTGATGACGATGA	0.552																																					p.I341I													.	.			0			c.C1023T												222	168	186					2																	175614728		2203	4300	6503	SO:0001819	synonymous_variant	1134	exon8			TGTGTTGATGACG	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1023C>T	2.37:g.175614728G>A			102	0	0		145	0.27	39	NM_001039523	4	0	0	B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	CCDS33331.1																																																																																					0.552	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000334116.1				A	175614728	G	A	175614728	2	1	66	1	0	0	0	0	0	0	0	1	3383	1280	45	3		3	CHRNA1	2	175614728	Silent	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	126631964	175614728	67584645	3	4701											
THAP4	51078	mdanderson.org	37	chr2	242573038	242573038	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaccatggtggccagTccatctcctggagtccgttc	5	10	10	16	1	1	0	0	0	1	0	5	1	3	1	7	3	1	1	7	3	0	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr2:242573038T>C	ENST00000407315.1	-	2	965	c.534A>G	c.(532-534)ggA>ggG	p.G178G		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	178							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		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;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGGTGGCCAGTCCATCTCCTG	0.642																																					p.G178G													.	.			0			c.A534G												55	57	56					2																	242573038		2203	4296	6499	SO:0001819	synonymous_variant	51078	exon2			GGCCAGTCCATCT	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.534A>G	2.37:g.242573038T>C			34	0	0		48	0.06	3	NM_015963	61	0	0	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	CCDS2551.1																																																																																					0.642	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257267.3		NM_015963		C	242573038	T	C	242573038	2	2	66	1	0	0	0	0	0	0	0	1	15869	1654	58	4		4	THAP4	2	242573038	Silent	SNP	T	TCGA-2G-AALN-01A-11D-A42Y-10	66958310	242573038	626335	4	4702											
RPN1	6184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	128344482	128344482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagcatgagcaccttgttGaacgtgtagtggacctggga	9	10	14	8	1	0	2	0	2	0	0	0	4	0	4	2	2	4	5	2	2	2	3			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr3:128344482G>A	ENST00000296255.3	-	8	1338	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	RPN1_ENST00000497289.1_Silent_p.F258F|RPN1_ENST00000490166.1_5'Flank	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	430					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GCACCTTGTTGAACGTGTAGT	0.577			T	EVI1	AML																																p.F430F				Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	.	.			0			c.C1290T												151	147	148					3																	128344482		2203	4300	6503	SO:0001819	synonymous_variant	6184	exon8			CTTGTTGAACGTG		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1290C>T	3.37:g.128344482G>A			66	0	0		84	0.29	24	NM_002950	414	0.3	124	B2R5Z0|D3DNB6|Q68DT1	Silent	SNP	ENST00000296255.3	37	CCDS3051.1																																																																																					0.577	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356934.2		NM_002950		A	128344482	G	A	128344482	2	1	66	1	0	0	0	0	0	0	0	1	13630	1281	45	3		3	RPN1	3	128344482	Silent	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		128344482	69677948	5	4703											
ANKRD17	26057	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	73958006	73958006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgcttgtcttgttgatTcagtgccacccctataaatt	8	16	8	9	0	2	1	1	1	1	0	2	2	2	1	3	0	2	3	3	0	3	8			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr4:73958006T>C	ENST00000358602.4	-	29	5455	c.5339A>G	c.(5338-5340)gAa>gGa	p.E1780G	ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1529G|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E1667G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1780	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)			TCTTGTTGATTCAGTGCCACC	0.313																																					p.E1780G													.	ANKRD17	214		0			c.A5339G												49	52	51					4																	73958006		2203	4300	6503	SO:0001583	missense	26057	exon29			GTTGATTCAGTGC	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.5339A>G	4.37:g.73958006T>C	ENSP00000351416:p.Glu1780Gly		71	0.014084507	1		68	0.37	25	NM_032217	0		0	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065614	0.55539	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.38240	1.15;1.15;1.15	5.28	5.28	0.74379	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000003	T	0.52613	0.1745	L	0.45137	1.4	0.54753	D	0.99998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.991;0.991;0.995;0.995	T	0.55134	-0.8188	10	0.87932	D	0	.	15.3678	0.74538	0.0:0.0:0.0:1.0	.	1779;1529;1780;1667	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	G	1780;1187;1529;1667;164	ENSP00000351416:E1780G;ENSP00000332265:E1529G;ENSP00000427151:E1667G	ENSP00000332265:E1529G	E	-	2	0	ANKRD17	74176870	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.525000	0.81892	2.219000	0.72066	0.533000	0.62120	GAA			0.313	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000362475.1		NM_032217		C	73958006	T	C	73958006	3	2	66	1	0	0	0	0	1	0	0	0	646	1783	62	4	2496	4	ANKRD17	4	73958006	Missense_Mutation	SNP	T	TCGA-2G-AALN-01A-11D-A42Y-10		73958006	117196270	6	4704											
CD14	929	mdanderson.org	37	chr5	140011835	140011835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgcacacctgccgccGccagtgcggcgcacacgcct	5	4	14	18	5	0	0	0	0	0	0	0	0	0	0	5	3	3	3	5	3	0	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr5:140011835G>A	ENST00000302014.6	-	2	1363	c.734C>T	c.(733-735)gCg>gTg	p.A245V	CD14_ENST00000401743.2_Missense_Mutation_p.A245V	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	245					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGCCGCCGCCAGTGCGGC	0.657																																					p.A245V													.	.			0			c.C734T												30	33	32					5																	140011835		2197	4291	6488	SO:0001583	missense	929	exon3			GCCGCCGCCAGTG		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.734C>T	5.37:g.140011835G>A	ENSP00000304236:p.Ala245Val		35	0	0		39	0.08	3	NM_001174105	300	0	1	Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464069	0.43736	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	D;D	0.90732	-2.72;-2.72	5.96	1.63	0.23807	.	0.569106	0.15611	N	0.253397	D	0.92401	0.7588	M	0.82323	2.585	0.20703	N	0.999861	D	0.89917	1.0	P	0.61328	0.887	T	0.82313	-0.0519	10	0.17832	T	0.49	-15.4072	4.5599	0.12154	0.0797:0.1244:0.5152:0.2807	.	245	P08571	CD14_HUMAN	V	245	ENSP00000304236:A245V;ENSP00000385519:A245V	ENSP00000304236:A245V	A	-	2	0	CD14	139992019	0.002000	0.14202	0.057000	0.19452	0.088000	0.18126	-0.225000	0.09151	0.382000	0.24878	-0.176000	0.13171	GCG			0.657	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251681.2		NM_000591		A	140011835	G	A	140011835	3	1	66	1	0	0	0	0	1	0	0	0	2966	1087	38	1	397	1	CD14	5	140011835	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		140011835	40903425	7	4705											
EBF1	1879	broad.mit.edu	37	chr5	158523398	158523398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgaattccgttattggtcTtttcgctgttggcttcctgg	4	18	11	8	2	1	1	0	1	1	0	4	1	3	1	2	3	0	4	2	3	2	7			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr5:158523398T>C	ENST00000313708.6	-	3	590	c.308A>G	c.(307-309)aAg>aGg	p.K103R	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.K103R|EBF1_ENST00000517373.1_Missense_Mutation_p.K103R	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	103					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)			GTTATTGGTCTTTTCGCTGTT	0.567			T	HMGA2	lipoma																																p.K103R				Dom	yes		5	5q34	1879	early B-cell factor 1		M	EBF1,NS,carcinoma,+1,1	EBF1	110	1	0			c.A308G												114	102	106					5																	158523398		2203	4300	6503	SO:0001583	missense	1879	exon3			TTGGTCTTTTCGC	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.308A>G	5.37:g.158523398T>C	ENSP00000322898:p.Lys103Arg		49	0	0		70	0.04	3	NM_024007	0		0	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.923039	0.92319	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.52295	0.67;0.67;0.68	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.61218	1.895	0.51482	D	0.999924	D;B;B	0.59357	0.985;0.008;0.045	P;B;B	0.54815	0.761;0.021;0.114	T	0.63310	-0.6666	10	0.59425	D	0.04	-7.1246	15.338	0.74273	0.0:0.0:0.0:1.0	.	103;103;103	A8K0Z7;Q9UH73;Q9UH73-2	.;COE1_HUMAN;.	R	103	ENSP00000322898:K103R;ENSP00000370029:K103R;ENSP00000428020:K103R	ENSP00000322898:K103R	K	-	2	0	EBF1	158455976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.221000	0.72243	2.099000	0.63709	0.533000	0.62120	AAG			0.567	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000252649.1		NM_024007		C	158523398	T	C	158523398	3	2	66	1	0	0	0	0	1	0	0	0	4885	1609	56	4	1523	4	EBF1	5	158523398	Missense_Mutation	SNP	T	TCGA-2G-AALN-01A-11D-A42Y-10	18511563	158523398	22391862	8	4706											
MUC21	394263	mdanderson.org	37	chr6	30954393	30954393	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacaacctccagtggggcTagcacagccaccaactctga	12	5	9	15	0	1	1	0	1	1	0	2	1	2	1	4	2	5	3	4	2	3	1	rs9262330		TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr6:30954393T>C	ENST00000376296.3	+	2	682	c.441T>C	c.(439-441)gcT>gcC	p.A147A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	147	28 X 15 AA approximate tandem repeats.|Ser-rich.				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						CCAGTGGGGCTAGCACAGCCA	0.627																																					p.A147A													.	.			0			c.T441C												153	144	147					6																	30954393		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			TGGGGCTAGCACA	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.441T>C	6.37:g.30954393T>C			39	0.0256410256	1		53	0.06	3	NM_001010909	0		0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																					0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909		C	30954393	T	C	30954393	2	2	66	1	0	0	0	0	0	0	0	1	9993	1509	53	4		4	MUC21	6	30954393	Silent	SNP	T	TCGA-2G-AALN-01A-11D-A42Y-10		30954393	140160674	9	4707											
MOCS1	4337	mdanderson.org	37	chr6	39883820	39883820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatccgctcacctttcctgCggacaatgaactcaaacttg	11	10	6	14	2	2	1	2	1	0	0	4	2	4	2	3	1	3	1	3	1	3	2	rs564888351		TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr6:39883820C>T	ENST00000340692.5	-	4	578	c.575G>A	c.(574-576)cGc>cAc	p.R192H	MOCS1_ENST00000432280.2_Missense_Mutation_p.R163H|MOCS1_ENST00000373175.4_Missense_Mutation_p.R163H|MOCS1_ENST00000373188.2_Missense_Mutation_p.R192H|MOCS1_ENST00000373195.3_Missense_Mutation_p.R105H|MOCS1_ENST00000425303.2_Missense_Mutation_p.R192H|MOCS1_ENST00000373186.4_Missense_Mutation_p.R192H|MOCS1_ENST00000308559.7_Missense_Mutation_p.R192H			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	192	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCTTTCCTGCGGACAATGAA	0.617													C|||	1	0.000199681	0	0	5008	,	,		18170	0		0	False		,,,				2504	0.001				p.R192H	NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												.	.			0			c.G575A												34	28	30					6																	39883820		2203	4300	6503	SO:0001583	missense	4337	exon4			TTCCTGCGGACAA	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.575G>A	6.37:g.39883820C>T	ENSP00000344794:p.Arg192His		43	0	0		55	0.05	3	NM_001075098	9	0	0	B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37		.	.	.	.	.	.	.	.	.	.	C	35	5.432078	0.96150	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.67	5.67	0.87782	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.96935	0.8999	M	0.91249	3.19	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;0.997;0.998;0.997;0.998	D	0.97089	0.9789	9	.	.	.	-25.8856	19.3581	0.94422	0.0:1.0:0.0:0.0	.	192;192;192;192;192	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	H	192;192;163;192;105;192;192;163	ENSP00000362282:R192H;ENSP00000309843:R192H;ENSP00000362270:R163H;ENSP00000362284:R192H;ENSP00000362291:R105H;ENSP00000344794:R192H;ENSP00000416478:R192H;ENSP00000410809:R163H	.	R	-	2	0	MOCS1	39991798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.783000	0.85696	2.675000	0.91044	0.650000	0.86243	CGC			0.617	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000040476.2		NM_005943		T	39883820	C	T	39883820	3	4	66	1	0	0	0	0	1	0	0	0	9706	768	27	1	610	1	MOCS1	6	39883820	Missense_Mutation	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	8929427	39883820	131231247	10	4708											
FAM20C	56975	mdanderson.org	37	chr7	195682	195682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtactccagacacaacccggCcatcgaggccctgctgcacg	9	5	10	17	3	0	1	0	0	0	1	2	2	1	1	4	2	4	3	4	2	2	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr7:195682C>T	ENST00000313766.5	+	2	965	c.734C>T	c.(733-735)gCc>gTc	p.A245V	AC093627.12_ENST00000467050.1_RNA|FAM20C_ENST00000471328.1_3'UTR	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	245					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CACAACCCGGCCATCGAGGCC	0.632																																					p.A245V													.	.			0			c.C734T												65	71	69					7																	195682		2099	4207	6306	SO:0001583	missense	56975	exon2			ACCCGGCCATCGA	BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"dentin matrix protein 4"	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.734C>T	7.37:g.195682C>T	ENSP00000322323:p.Ala245Val		34	0	0		40	0.08	3	NM_020223	41	0	0	A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Missense_Mutation	SNP	ENST00000313766.5	37	CCDS47522.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151115	0.21371	.	.	ENSG00000177706	ENST00000313766	T	0.75821	-0.97	4.81	4.81	0.61882	.	0.109428	0.35495	N	0.003169	T	0.50650	0.1628	N	0.01800	-0.715	0.49798	D	0.999828	B	0.12630	0.006	B	0.10450	0.005	T	0.48399	-0.9039	10	0.21540	T	0.41	.	17.8064	0.88602	0.0:1.0:0.0:0.0	.	245	Q8IXL6	DMP4_HUMAN	V	245	ENSP00000322323:A245V	ENSP00000322323:A245V	A	+	2	0	FAM20C	290765	0.995000	0.38212	0.121000	0.21740	0.095000	0.18619	3.086000	0.50159	2.392000	0.81423	0.561000	0.74099	GCC			0.632	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322476.2		NM_020223		T	195682	C	T	195682	3	4	66	1	0	0	0	0	1	0	0	0	5549	739	26	2	740	2	FAM20C	7	195682	Missense_Mutation	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10		195682	158942981	11	4709											
PTPRZ1	5803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	121682713	121682713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctagacagtatgttgcaGcagattcaacacgaaggaac	14	8	11	8	1	1	2	1	0	0	2	1	4	1	3	0	1	5	5	0	1	5	4			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr7:121682713G>A	ENST00000393386.2	+	22	6264	c.5853G>A	c.(5851-5853)caG>caA	p.Q1951Q	PTPRZ1_ENST00000449182.1_Silent_p.Q1084Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1951	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						GTATGTTGCAGCAGATTCAAC	0.333																																					p.Q1951Q													.	.			0			c.G5853A												124	106	112					7																	121682713		2203	4300	6503	SO:0001819	synonymous_variant	5803	exon22			GTTGCAGCAGATT	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.5853G>A	7.37:g.121682713G>A			160	0	0		133	0.26	34	NM_002851	7	0.14	1	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																					0.333	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347288.1		NM_002851		A	121682713	G	A	121682713	2	1	66	1	0	0	0	0	0	0	0	1	12837	962	34	2		2	PTPRZ1	7	121682713	Silent	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	121487031	121682713	37455950	12	4710											
SET	6418	mdanderson.org	37	chr9	131446269	131446269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagacatcggcctctgcagGcttgccgaagaagggaggta	10	6	16	9	2	1	2	0	0	1	2	2	5	1	3	2	5	2	3	2	5	3	2			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr9:131446269G>T	ENST00000372692.4	+	1	336	c.95G>T	c.(94-96)gGc>gTc	p.G32V	SET_ENST00000409104.3_5'Flank	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	32	Dimerization.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GCCTCTGCAGGCTTGCCGAAG	0.517			T	NUP214	AML																																p.G32V				Dom	yes		9	9q34	6418	SET translocation		L	.	.			0			c.G95T												30	33	32					9																	131446269		1554	3529	5083	SO:0001583	missense	6418	exon1			CTGCAGGCTTGCC	M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.95G>T	9.37:g.131446269G>T	ENSP00000361777:p.Gly32Val		24	0	0		41	0.07	3	NM_001122821	243	0	0	A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	ENST00000372692.4	37	CCDS48037.1	.	.	.	.	.	.	.	.	.	.	G	9.399	1.077605	0.20227	.	.	ENSG00000119335	ENST00000454747;ENST00000372692	T	0.33865	1.39	3.36	-0.0433	0.13860	.	0.179583	0.49305	D	0.000152	T	0.19805	0.0476	N	0.24115	0.695	0.09310	N	0.999995	B	0.19706	0.038	B	0.14023	0.01	T	0.13469	-1.0508	10	0.66056	D	0.02	.	5.617	0.17436	0.7002:0.0:0.2998:0.0	.	32	Q01105	SET_HUMAN	V	32	ENSP00000361777:G32V	ENSP00000361777:G32V	G	+	2	0	SET	130486090	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.104000	0.10923	-0.008000	0.14320	0.591000	0.81541	GGC			0.517	SET-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054476.2		NM_001122821		T	131446269	G	T	131446269	3	4	66	1	0	0	0	0	1	0	0	0	14151	1203	42	2	97	2	SET	9	131446269	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		131446269	9767162	13	4711											
SLC34A3	142680	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	140129149	140129149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccctgctggctgccctggCcagccccgcagacaggatgc	6	5	13	17	1	0	1	0	0	0	1	0	2	0	2	5	3	5	3	5	3	0	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr9:140129149C>T	ENST00000538474.1	+	12	1525	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	SLC34A3_ENST00000361134.2_Missense_Mutation_p.A434V	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	434					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCTGCCCTGGCCAGCCCCGCA	0.667																																					p.A434V													.	SLC34A3	32		0			c.C1301T												49	41	43					9																	140129149		2200	4296	6496	SO:0001583	missense	142680	exon12			CCCTGGCCAGCCC	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1301C>T	9.37:g.140129149C>T	ENSP00000442397:p.Ala434Val		27	0	0		31	0.16	5	NM_001177317	1	0	0	A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668337	0.88348	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.86230	-2.09;-2.09	3.33	3.33	0.38152	.	0.000000	0.49305	D	0.000159	D	0.89181	0.6642	L	0.46157	1.445	0.47737	D	0.999505	D	0.61697	0.99	D	0.63113	0.911	D	0.89015	0.3431	10	0.49607	T	0.09	-8.0842	12.5156	0.56030	0.0:1.0:0.0:0.0	.	434	Q8N130	NPT2C_HUMAN	V	434	ENSP00000442397:A434V;ENSP00000355353:A434V	ENSP00000355353:A434V	A	+	2	0	SLC34A3	139248970	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	5.602000	0.67612	1.861000	0.53984	0.448000	0.29417	GCC			0.667	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254712.1		NM_080877		T	140129149	C	T	140129149	3	4	66	1	0	0	0	0	1	0	0	0	14592	739	26	2	1343	2	SLC34A3	9	140129149	Missense_Mutation	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	8682880	140129149	1084282	14	4712											
CALML3	810	mdanderson.org	37	chr10	5567450	5567450	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcggacacggacggagaCggacaggtgaactacgagga	12	2	17	10	6	0	2	0	1	0	1	0	8	0	6	1	6	2	0	1	6	2	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr10:5567450C>T	ENST00000315238.1	+	1	527	c.402C>T	c.(400-402)gaC>gaT	p.D134D	CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000543008.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	134	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						CGGACGGAGACGGACAGGTGA	0.672																																					p.D134D	Colon(173;2070 2647 27580 52203)												.	.			0			c.C402T												63	58	59					10																	5567450		2203	4300	6503	SO:0001819	synonymous_variant	810	exon1			CGGAGACGGACAG	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"EF-hand domain containing"	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.402C>T	10.37:g.5567450C>T			39	0	0		47	0.06	3	NM_005185	1	0	0	B2R9V6|Q5SQI4	Silent	SNP	ENST00000315238.1	37	CCDS7069.1																																																																																					0.672	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046555.1		NM_005185		T	5567450	C	T	5567450	2	4	66	1	0	0	0	0	0	0	0	1	2589	535	19	1		1	CALML3	10	5567450	Silent	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10		5567450	129967297	15	4713											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacaagggagaggtcttGatgtttttctgtgatgttga	8	15	15	3	0	2	4	0	3	2	1	2	6	2	5	0	3	0	2	0	3	1	4	rs79064394		TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					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)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																					p.L362F													CSGALNACT2,NS,carcinoma,0,5	CSGALNACT2	67	5	5	Substitution - Missense(5)	endometrium(4)|kidney(1)	c.G1086T												223	221	222					10																	43659419		2203	4300	6503	SO:0001583	missense	55454	exon5			GGTCTTGATGTTT	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.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe		113	0.017699115	2		110	0.04	4	NM_018590	11	0	0	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG			0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047693.1		NM_018590		T	43659419	G	T	43659419	3	4	66	1	0	0	0	0	1	0	0	0	3941	1281	45	3	1100	3	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	38091969	43659419	91875328	16	4714											
GDF10	2662	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	48429456	48429456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcatagcacctcgagcgctcGaggccaccgaggcggctctg	7	5	14	15	5	1	0	0	0	1	0	3	3	1	0	3	3	2	4	3	3	1	1	rs139712067		TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr10:48429456G>C	ENST00000224605.2	-	2	695	c.430C>G	c.(430-432)Cga>Gga	p.R144G		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	144					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCGAGCGCTCGAGGCCACCGA	0.627																																					p.R144G													.	.			0			c.C430G																																									SO:0001583	missense	2662	exon2			GCGCTCGAGGCCA	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.430C>G	10.37:g.48429456G>C	ENSP00000224605:p.Arg144Gly		68	0	0		69	0.32	22	NM_004962	2	0	0	Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	6.717	0.500965	0.12822	.	.	ENSG00000107623	ENST00000224605	T	0.75260	-0.92	5.59	2.52	0.30459	.	0.519649	0.22337	N	0.061388	T	0.66567	0.2802	L	0.47716	1.5	0.35940	D	0.833168	P	0.38565	0.637	B	0.41946	0.371	T	0.64769	-0.6329	9	.	.	.	.	7.3745	0.26821	0.0786:0.0:0.4688:0.4526	.	144	P55107	BMP3B_HUMAN	G	144	ENSP00000224605:R144G	.	R	-	1	2	GDF10	48049462	0.992000	0.36948	0.291000	0.24904	0.025000	0.11179	2.305000	0.43664	0.226000	0.20979	-0.410000	0.06199	CGA			0.627	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047884.1		NM_004962		C	48429456	G	C	48429456	3	2	66	1	0	0	0	0	1	0	0	0	6325	1066	37	5	1014	5	GDF10	10	48429456	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	4770037	48429456	87105291	17	4715											
DHX32	55760	mdanderson.org	37	chr10	127526784	127526784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaacttacagttcaggaGagatttctgaggtaatcctg	13	13	9	6	0	2	2	1	1	1	1	3	4	3	3	1	2	2	2	1	2	4	5			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr10:127526784G>T	ENST00000284690.3	-	10	2544	c.2054C>A	c.(2053-2055)tCt>tAt	p.S685Y	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.S309Y|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.S604Y	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	685						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)				CAGTTCAGGAGAGATTTCTGA	0.358																																					p.S685Y													.	.			0			c.C2054A												94	94	94					10																	127526784		2203	4300	6503	SO:0001583	missense	55760	exon10			TCAGGAGAGATTT		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.2054C>A	10.37:g.127526784G>T	ENSP00000284690:p.Ser685Tyr		45	0	0		37	0.08	3	NM_018180	63	0	0	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766095	0.69878	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.18657	2.2;3.98;3.69	5.09	5.09	0.68999	Domain of unknown function DUF1605 (1);	0.133662	0.52532	D	0.000070	T	0.44540	0.1298	M	0.71581	2.175	0.58432	D	0.999999	D	0.56287	0.975	P	0.60886	0.88	T	0.44651	-0.9314	10	0.87932	D	0	-15.9037	17.5018	0.87734	0.0:0.0:1.0:0.0	.	685	Q7L7V1	DHX32_HUMAN	Y	309;685;604	ENSP00000357710:S309Y;ENSP00000284690:S685Y;ENSP00000284688:S604Y	ENSP00000284688:S604Y	S	-	2	0	DHX32	127516774	1.000000	0.71417	0.835000	0.33067	0.561000	0.35649	6.155000	0.71833	2.363000	0.80096	0.561000	0.74099	TCT			0.358	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050945.2		NM_018180		T	127526784	G	T	127526784	3	4	66	1	0	0	0	0	1	0	0	0	4510	942	33	3	185	3	DHX32	10	127526784	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	79097328	127526784	8007963	18	4716											
KRTAP5-5	439915	hgsc.bcm.edu	37	chr11	1651442	1651442	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgtggctcctgtgggggGtccaaggggggctgtggctc	2	9	21	9	0	0	0	0	0	0	0	3	0	2	0	2	9	0	4	2	9	1	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr11:1651442G>C	ENST00000399676.2	+	1	410	c.372G>C	c.(370-372)ggG>ggC	p.G124G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	124	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G124G(2)		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)		CCTGTGGGGGGTCCAAGGGGG	0.692																																					p.G124G													KRTAP5-5,bladder,carcinoma,0,4	KRTAP5-5	0	4	2	Substitution - coding silent(2)	prostate(2)	c.G372C																																									SO:0001819	synonymous_variant	439915	exon1			TGGGGGGTCCAAG	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.372G>C	11.37:g.1651442G>C			37	0.0540540541	2		47	0.13	6	NM_001001480	0		0	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																					0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127919.1				C	1651442	G	C	1651442	2	2	66	1	0	0	0	0	0	0	0	1	8579	1248	44	5		5	KRTAP5-5	11	1651442	Silent	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		1651442	133355074	19	4717											
RTN4RL2	349667	mdanderson.org	37	chr11	57243909	57243909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggctcaacgctaacccctGggcgtgcgactgccgcgcgc	5	5	14	17	7	1	0	1	0	0	0	1	1	1	0	3	2	4	2	3	2	2	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr11:57243909G>T	ENST00000335099.3	+	3	1105	c.788G>T	c.(787-789)tGg>tTg	p.W263L	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCTAACCCCTGGGCGTGCGAC	0.731																																					p.W263L													.	.			0			c.G788T												6	7	7					11																	57243909		2074	4152	6226	SO:0001583	missense	349667	exon3			ACCCCTGGGCGTG	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.788G>T	11.37:g.57243909G>T	ENSP00000335397:p.Trp263Leu		12	0	0		10	0.2	2	NM_178570	0		0		Missense_Mutation	SNP	ENST00000335099.3	37	CCDS7957.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103860	0.76983	.	.	ENSG00000186907	ENST00000335099	T	0.01584	4.75	4.43	4.43	0.53597	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.37095	U	0.002245	T	0.05227	0.0139	M	0.66939	2.045	0.80722	D	1	D	0.61080	0.989	P	0.48524	0.58	T	0.31166	-0.9953	10	0.87932	D	0	.	16.6163	0.84917	0.0:0.0:1.0:0.0	.	263	Q86UN3	R4RL2_HUMAN	L	263	ENSP00000335397:W263L	ENSP00000335397:W263L	W	+	2	0	RTN4RL2	57000485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.411000	0.97342	1.991000	0.58162	0.491000	0.48974	TGG			0.731	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392537.1		NM_178570		T	57243909	G	T	57243909	3	4	66	1	0	0	0	0	1	0	0	0	13755	1357	47	3	798	3	RTN4RL2	11	57243909	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	55592467	57243909	77762607	20	4718											
MARK2	2011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	63662685	63662685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaagtccaacatgattcggGgccgcaactcagccacctct	10	8	9	14	2	2	1	1	1	1	0	4	1	3	1	4	2	3	2	4	2	3	2			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr11:63662685G>A	ENST00000509502.2	+	2	473	c.10G>A	c.(10-12)Ggc>Agc	p.G4S	MARK2_ENST00000315032.8_Missense_Mutation_p.G37S|MARK2_ENST00000425897.2_Missense_Mutation_p.G4S|MARK2_ENST00000413835.2_Missense_Mutation_p.G37S|MARK2_ENST00000513765.2_Missense_Mutation_p.G4S|MARK2_ENST00000508192.1_Missense_Mutation_p.G37S|MARK2_ENST00000408948.3_Missense_Mutation_p.G4S|MARK2_ENST00000377810.3_Missense_Mutation_p.G4S|MARK2_ENST00000350490.7_Missense_Mutation_p.G37S|MARK2_ENST00000502399.3_Missense_Mutation_p.G37S|MARK2_ENST00000377809.4_Missense_Mutation_p.G37S|MARK2_ENST00000402010.2_Missense_Mutation_p.G37S|MARK2_ENST00000361128.5_Missense_Mutation_p.G37S	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						CATGATTCGGGGCCGCAACTC	0.547																																					p.G37S													.	.			0			c.G109A												49	47	48					11																	63662685		2201	4298	6499	SO:0001583	missense	2011	exon2			ATTCGGGGCCGCA	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.10G>A	11.37:g.63662685G>A	ENSP00000423974:p.Gly4Ser		79	0	0		93	0.17	16	NM_001163296	4	0.5	2		Missense_Mutation	SNP	ENST00000509502.2	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449191	0.63178	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000508025;ENST00000502399;ENST00000543220;ENST00000543674;ENST00000540169;ENST00000509502;ENST00000512060;ENST00000535394;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.47;-0.47;-0.48;-0.47;-0.45;-0.47;-0.46;-0.46;-0.26;0.09;-0.46;-0.44;-0.45;-0.46	6.07	6.07	0.98685	.	0.165435	0.53938	D	0.000053	T	0.55178	0.1904	N	0.01168	-0.975	0.40286	D	0.978458	B;D;B;B;B;B;B	0.61697	0.0;0.99;0.001;0.0;0.288;0.0;0.0	B;P;B;B;B;B;B	0.59546	0.001;0.859;0.002;0.001;0.081;0.002;0.002	T	0.59648	-0.7415	10	0.08599	T	0.76	.	14.2756	0.66177	0.0:0.0:0.8511:0.1489	.	4;57;4;37;37;37;37	E7ETY4;Q5DNC5;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;.;MARK2_HUMAN;.	S	37;37;37;37;4;37;37;37;37;37;4;71;4;4;57;57;4;4;4	ENSP00000385751:G37S;ENSP00000326632:G37S;ENSP00000367040:G37S;ENSP00000389184:G37S;ENSP00000367041:G4S;ENSP00000425765:G37S;ENSP00000355091:G37S;ENSP00000294247:G37S;ENSP00000444956:G4S;ENSP00000437509:G4S;ENSP00000423974:G4S;ENSP00000421075:G4S;ENSP00000386128:G4S;ENSP00000415494:G4S	ENSP00000326632:G37S	G	+	1	0	MARK2	63419261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.031000	0.49728	2.884000	0.98904	0.655000	0.94253	GGC			0.547	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000360862.2		NM_017490		A	63662685	G	A	63662685	3	1	66	1	0	0	0	0	1	0	0	0	9329	1232	43	3	115	3	MARK2	11	63662685	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	6418776	63662685	71343831	21	4719											
ATG2A	23130	mdanderson.org	37	chr11	64684506	64684506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgaggctgagctggtccagGctgaggtgctcttggaagaa	8	9	16	8	1	1	3	0	2	1	1	3	5	2	4	1	5	2	4	1	5	2	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr11:64684506G>T	ENST00000377264.3	-	1	214	c.102C>A	c.(100-102)agC>agA	p.S34R	ATG2A_ENST00000421419.2_Missense_Mutation_p.S34R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	34					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						GCTGGTCCAGGCTGAGGTGCT	0.582																																					p.S34R													.	.			0			c.C102A												91	75	80					11																	64684506		2201	4297	6498	SO:0001583	missense	23130	exon1			GTCCAGGCTGAGG		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.102C>A	11.37:g.64684506G>T	ENSP00000366475:p.Ser34Arg		40	0	0		46	0.07	3	NM_015104	0		0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.124639|4.124639	0.77436|0.77436	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000377262|ENST00000421419;ENST00000377264;ENST00000227459	.|T;T	.|0.72051	.|-0.62;-0.62	4.95|4.95	3.07|3.07	0.35406|0.35406	.|.	.|0.047620	.|0.85682	.|D	.|0.000000	T|T	0.74458|0.74458	0.3719|0.3719	L|L	0.39397|0.39397	1.21|1.21	0.49299|0.49299	D|D	0.999777|0.999777	.|D	.|0.76494	.|0.999	.|D	.|0.75020	.|0.985	T|T	0.71803|0.71803	-0.4482|-0.4482	6|10	0.87932|0.42905	D|T	0|0.14	.|.	9.7138|9.7138	0.40263|0.40263	0.1748:0.0:0.8252:0.0|0.1748:0.0:0.8252:0.0	.|.	.|34	.|Q2TAZ0	.|ATG2A_HUMAN	T|R	32|34	.|ENSP00000410522:S34R;ENSP00000366475:S34R	ENSP00000366473:P32T|ENSP00000227459:S34R	P|S	-|-	1|3	0|2	ATG2A|ATG2A	64441082|64441082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.055000|2.055000	0.41345|0.41345	0.758000|0.758000	0.33059|0.33059	0.561000|0.561000	0.74099|0.74099	CCT|AGC			0.582	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000143224.1		NM_015104		T	64684506	G	T	64684506	3	4	66	1	0	0	0	0	1	0	0	0	1093	1194	42	2	5878	2	ATG2A	11	64684506	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	1021821	64684506	70322010	22	4720											
SART1	9092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65733919	65733919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcacggctgatggcctGcgggagcgggagctggagga	6	4	22	9	4	0	1	0	1	0	0	0	5	0	5	1	8	3	3	1	8	0	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr11:65733919G>A	ENST00000312397.5	+	9	1172	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	360					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTGATGGCCTGCGGGAGCGGG	0.647																																					p.L360L													.	.			0			c.G1080A												31	31	31					11																	65733919		2201	4296	6497	SO:0001819	synonymous_variant	9092	exon9			TGGCCTGCGGGAG	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1080G>A	11.37:g.65733919G>A			50	0	0		82	0.44	36	NM_005146	163	0.39	64	A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	CCDS31611.1																																																																																					0.647	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391409.1				A	65733919	G	A	65733919	2	1	66	1	0	0	0	0	0	0	0	1	13869	1306	46	2		2	SART1	11	65733919	Silent	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	1049413	65733919	69272597	23	4721											
SAPS3	55291	mdanderson.org	37	chr11	68377455	68377455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagaggcgaagtgcgCggcgcccaggcctcccagca	8	3	15	15	4	0	1	0	0	0	1	1	3	1	1	3	3	3	2	3	3	1	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr11:68377455C>T	ENST00000393800.2	+	23	2788	c.2534C>T	c.(2533-2535)gCg>gTg	p.A845V	PPP6R3_ENST00000265637.4_Missense_Mutation_p.A799V|PPP6R3_ENST00000393799.2_Missense_Mutation_p.A851V|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A839V|PPP6R3_ENST00000534534.1_Missense_Mutation_p.A613V|PPP6R3_ENST00000529710.1_Missense_Mutation_p.A765V|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A816V|PPP6R3_ENST00000265636.5_Missense_Mutation_p.A765V|PPP6R3_ENST00000527403.2_Missense_Mutation_p.A810V|PPP6R3_ENST00000393801.3_Missense_Mutation_p.A851V	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	845					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						GCGAAGTGCGCGGCGCCCAGG	0.607																																					p.A851V													PPP6R3_ENST00000393801,rectum,carcinoma,+1,2	PPP6R3_ENST00000393801	1	2	0			c.C2552T												75	69	71					11																	68377455		2200	4294	6494	SO:0001583	missense	55291	exon24			AGTGCGCGGCGCC	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.2534C>T	11.37:g.68377455C>T	ENSP00000377389:p.Ala845Val		38	0	0		20	0.1	2	NM_001164160	40	0	0	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.842|9.842	1.191376|1.191376	0.21954|0.21954	.|.	.|.	ENSG00000110075|ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190|ENST00000530734	T;T;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;0.87;0.87|.	5.2|5.2	-1.78|-1.78	0.07957|0.07957	.|.	1.693780|.	0.03025|.	N|.	0.151328|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;B|.	0.06786|.	0.0;0.0;0.001;0.0;0.001;0.0;0.001;0.001|.	B;B;B;B;B;B;B;B|.	0.04013|.	0.0;0.0;0.001;0.001;0.001;0.0;0.001;0.001|.	T|T	0.29119|0.29119	-1.0022|-1.0022	10|5	0.19590|.	T|.	0.45|.	.|.	11.0736|11.0736	0.48019|0.48019	0.0:0.4968:0.0:0.5032|0.0:0.4968:0.0:0.5032	.|.	528;613;765;816;839;845;851;765|.	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4|.	.;.;.;.;.;PP6R3_HUMAN;.;.|.	V|W	851;845;613;816;799;839;851;765;765;810;552|13	ENSP00000377388:A851V;ENSP00000377389:A845V;ENSP00000434429:A613V;ENSP00000431415:A816V;ENSP00000265637:A799V;ENSP00000433058:A839V;ENSP00000377390:A851V;ENSP00000265636:A765V;ENSP00000437329:A765V;ENSP00000433565:A810V;ENSP00000436209:A552V|.	ENSP00000265636:A765V|.	A|R	+|+	2|1	0|2	PPP6R3|PPP6R3	68134031|68134031	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.342000|0.342000	0.19926|0.19926	-0.735000|-0.735000	0.04837|0.04837	-0.367000|-0.367000	0.07326|0.07326	GCG|CGG			0.607	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395275.1		NM_018312		T	68377455	C	T	68377455	3	4	66	1	0	0	0	0	1	0	0	0	13861	768	27	1	2638	1	SAPS3	11	68377455	Missense_Mutation	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	2643536	68377455	66629061	24	4722											
TRPC6	7225	mdanderson.org	37	chr11	101454180	101454180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcgcagcggctccggCagcgccccggggagaactgc	5	2	17	17	7	0	1	0	0	0	1	1	2	1	1	4	4	4	3	4	4	1	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr11:101454180C>T	ENST00000344327.3	-	1	479	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	TRPC6_ENST00000348423.4_Missense_Mutation_p.A19T|TRPC6_ENST00000532133.1_Missense_Mutation_p.A19T|TRPC6_ENST00000360497.4_Missense_Mutation_p.A19T|RP11-748H22.1_ENST00000527374.1_RNA|TRPC6_ENST00000526713.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	19					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCGGCTCCGGCAGCGCCCCGG	0.741																																					p.A19T	Colon(166;1315 1927 11094 12848 34731)												.	.			0			c.G55A												8	9	8					11																	101454180		2113	4104	6217	SO:0001583	missense	7225	exon1			CTCCGGCAGCGCC	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.55G>A	11.37:g.101454180C>T	ENSP00000340913:p.Ala19Thr		19	0	0		20	0.1	2	NM_004621	0		0	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.545035	0.00934	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79749	-1.14;-1.21;-1.03;-1.3	3.65	0.526	0.17078	.	0.935497	0.08871	N	0.881580	T	0.60470	0.2271	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	0.43180	-0.9407	10	0.23302	T	0.38	-10.2795	3.4199	0.07389	0.0:0.5065:0.2334:0.2601	.	19;19;19	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	19	ENSP00000340913:A19T;ENSP00000435574:A19T;ENSP00000343672:A19T;ENSP00000353687:A19T	ENSP00000340913:A19T	A	-	1	0	TRPC6	100959390	0.000000	0.05858	0.024000	0.17045	0.001000	0.01503	-0.178000	0.09782	0.271000	0.22005	0.462000	0.41574	GCC			0.741	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394770.1		NM_004621		T	101454180	C	T	101454180	3	4	66	1	0	0	0	0	1	0	0	0	16607	710	25	2	2792	2	TRPC6	11	101454180	Missense_Mutation	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	33076725	101454180	33552336	25	4723											
FOXM1	2305	broad.mit.edu	37	chr12	2968305	2968305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttaatgggtgtcttaaaAggtcctcccacttcctggga	8	13	9	11	0	1	0	0	0	1	0	5	1	5	1	4	3	0	0	4	3	3	3			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr12:2968305A>G	ENST00000359843.3	-	9	1859	c.1791T>C	c.(1789-1791)ccT>ccC	p.P597P	FOXM1_ENST00000342628.2_Silent_p.P635P|AC005841.1_ENST00000382678.3_5'Flank|Y_RNA_ENST00000410561.1_RNA|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.P582P	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	597					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)			GTGTCTTAAAAGGTCCTCCCA	0.622																																					p.P635P													.	FOXM1	62		0			c.T1905C												54	62	59					12																	2968305		2194	4292	6486	SO:0001819	synonymous_variant	2305	exon10			CTTAAAAGGTCCT	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.1791T>C	12.37:g.2968305A>G			16	0	0		89	0.03	3	NM_202002	281	0.01	3	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1																																																																																					0.622	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000398272.1		NM_021953		G	2968305	A	G	2968305	2	3	66	1	0	0	0	0	0	0	0	1	6031	59	3	4		4	FOXM1	12	2968305	Silent	SNP	A	TCGA-2G-AALN-01A-11D-A42Y-10		2968305	130883590	26	4724											
KLRC3	3823	broad.mit.edu	37	chr12	10568291	10568291	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcgctttaattctaaaGcttatgctcacaatgattct	12	15	5	9	1	4	1	2	1	2	0	4	1	4	1	0	0	3	3	0	0	6	6			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr12:10568291G>T	ENST00000396439.2	-	6	723				KLRC3_ENST00000381904.2_Intron|KLRC3_ENST00000381903.2_Missense_Mutation_p.S230R|NKG2-E_ENST00000539033.1_Intron	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3						cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TAATTCTAAAGCTTATGCTCA	0.343																																					p.S230R													.	KLRC3	25		0			c.C690A												103	89	94					12																	10568291		2203	4300	6503	SO:0001627	intron_variant	3823	exon6			TCTAAAGCTTATG	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.678+11C>A	12.37:g.10568291G>T			106	0.0188679245	2		336	0.02	8	NM_007333	0		0	Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706406	0.30232	.	.	ENSG00000205810	ENST00000381903	T	0.01685	4.69	2.48	-0.808	0.10868	.	.	.	.	.	T	0.01353	0.0044	.	.	.	0.09310	N	1	B	0.26041	0.14	B	0.28849	0.095	T	0.48636	-0.9018	8	0.29301	T	0.29	.	3.1664	0.06538	0.1512:0.0:0.429:0.4198	.	230	Q07444-2	.	R	230	ENSP00000371328:S230R	ENSP00000371328:S230R	S	-	3	2	KLRC3	10459558	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.715000	0.04997	-0.198000	0.10333	0.557000	0.71058	AGC			0.343	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000393471.1		NM_002261		T	10568291	G	T	10568291	1	4	66	0	1	0	0	0	0	0	0	0	8432	962	34	2		2	KLRC3	12	10568291	Intron	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	7599986	10568291	123283604	27	4725											
KLRC3	3823	broad.mit.edu	37	chr12	10569302	10569302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccatttattgtcacccatGgatgatgactgctgttacga	11	13	8	9	1	1	2	1	2	0	0	1	4	1	3	2	1	3	2	2	1	3	4			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr12:10569302G>T	ENST00000396439.2	-	5	595	c.551C>A	c.(550-552)cCa>cAa	p.P184Q	KLRC3_ENST00000381904.2_Missense_Mutation_p.P184Q|KLRC3_ENST00000381903.2_Missense_Mutation_p.P184Q|NKG2-E_ENST00000539033.1_Missense_Mutation_p.P184Q	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	184	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGTCACCCATGGATGATGACT	0.299																																					p.P184Q													.	KLRC3	25		0			c.C551A												65	64	64					12																	10569302		2203	4300	6503	SO:0001583	missense	3823	exon5			ACCCATGGATGAT	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.551C>A	12.37:g.10569302G>T	ENSP00000379716:p.Pro184Gln		333	0	0		1156	0.01	11	NM_007333	0		0	Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045405	0.36085	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	2.96	2.01	0.26516	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.950064	0.08605	N	0.920870	T	0.21718	0.0523	M	0.76574	2.34	0.09310	N	1	D;D;D	0.89917	0.962;0.999;1.0	P;D;D	0.91635	0.739;0.984;0.999	T	0.09100	-1.0690	10	0.44086	T	0.13	.	7.0535	0.25085	0.0:0.0:0.7303:0.2697	.	184;184;184	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	Q	184	ENSP00000437563:P184Q;ENSP00000379716:P184Q;ENSP00000371329:P184Q;ENSP00000371328:P184Q	ENSP00000371328:P184Q	P	-	2	0	KLRC3;RP11-277P12.6	10460569	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.727000	0.25999	0.750000	0.32877	0.650000	0.86243	CCA			0.299	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000393471.1		NM_002261		T	10569302	G	T	10569302	3	4	66	1	0	0	0	0	1	0	0	0	8432	1348	47	3	279	3	KLRC3	12	10569302	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	1011	10569302	123282593	28	4726											
TAS2R30	259293	mdanderson.org	37	chr12	11285924	11285924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtgaatctatggagaCgaaggcttctgtctttcacc	8	14	9	10	1	5	2	1	1	4	1	5	4	5	2	1	2	0	1	1	2	3	4	rs2597924		TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr12:11285924C>T	ENST00000539585.1	-	1	1319	c.920G>A	c.(919-921)cGt>cAt	p.R307H	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	307					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)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TCTATGGAGACGAAGGCTTCT	0.403																																					p.R307H													.	.			0			c.G920A												119	120	120					12																	11285924		1971	4181	6152	SO:0001583	missense	259293	exon1			TGGAGACGAAGGC	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.920G>A	12.37:g.11285924C>T	ENSP00000444736:p.Arg307His		105	0.0095238095	1		305	0.06	19	NM_001097643	1	1	1	Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	8.463	0.855758	0.17106	.	.	ENSG00000256188	ENST00000539585	T	0.37411	1.2	1.89	-3.76	0.04359	.	.	.	.	.	T	0.16896	0.0406	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	9	0.72032	D	0.01	.	3.0285	0.06098	0.0:0.3931:0.2634:0.3434	rs2597924	307	P59541	T2R30_HUMAN	H	307	ENSP00000444736:R307H	ENSP00000444736:R307H	R	-	2	0	TAS2R30	11177191	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.014000	0.13333	-0.389000	0.07786	-0.752000	0.03492	CGT			0.403	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400238.1		NM_001097643		T	11285924	C	T	11285924	3	4	66	1	0	0	0	0	1	0	0	0	15596	536	19	1	43	1	TAS2R30	12	11285924	Missense_Mutation	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	716622	11285924	122565971	29	4727											
WBP11	51729	broad.mit.edu	37	chr12	14947586	14947586	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtggaccagggggAgggccaggaggttttctgcc	7	6	21	7	0	1	0	0	0	1	0	1	5	1	5	3	9	1	1	3	9	0	2			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr12:14947586A>G	ENST00000261167.2	-	7	839	c.606T>C	c.(604-606)ccT>ccC	p.P202P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	202	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GACCAGGGGGAGGGCCAGGAG	0.512																																					p.P202P													WBP11,right_lower_lobe,carcinoma,0,2	WBP11	66	2	0			c.T606C												100	107	105					12																	14947586		2203	4300	6503	SO:0001819	synonymous_variant	51729	exon7			AGGGGGAGGGCCA	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.606T>C	12.37:g.14947586A>G			161	0.0124223602	2		574	0.01	8	NM_016312	236	0	1	Q96AY8	Silent	SNP	ENST00000261167.2	37	CCDS8666.1																																																																																					0.512	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400850.1		NM_016312		G	14947586	A	G	14947586	2	3	66	1	0	0	0	0	0	0	0	1	17282	291	11	4		4	WBP11	12	14947586	Silent	SNP	A	TCGA-2G-AALN-01A-11D-A42Y-10	3661662	14947586	118904309	30	4728											
ITPR2	3709	broad.mit.edu	37	chr12	26568269	26568269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtttttcagcctatcaaCttccatagtgaagtcatcct	9	15	6	11	1	3	1	3	1	0	0	6	1	5	1	3	1	2	1	3	1	4	5			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr12:26568269C>T	ENST00000381340.3	-	51	7689	c.7273G>A	c.(7273-7275)Gtt>Att	p.V2425I	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2425					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)	AGCCTATCAACTTCCATAGTG	0.413																																					p.V2425I													.	ITPR2	270		0			c.G7273A												113	108	109					12																	26568269		1848	4090	5938	SO:0001583	missense	3709	exon51			TATCAACTTCCAT	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.7273G>A	12.37:g.26568269C>T	ENSP00000370744:p.Val2425Ile		142	0	0		534	0.01	5	NM_002223	12	0	0	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996521	0.93167	.	.	ENSG00000123104	ENST00000381340	D	0.98455	-4.94	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	M	0.77712	2.385	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98802	1.0740	10	0.23891	T	0.37	.	18.6686	0.91501	0.0:1.0:0.0:0.0	.	2425	Q14571	ITPR2_HUMAN	I	2425	ENSP00000370744:V2425I	ENSP00000370744:V2425I	V	-	1	0	ITPR2	26459536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.638000	0.83328	2.636000	0.89361	0.591000	0.81541	GTT			0.413	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402732.1		NM_002223		T	26568269	C	T	26568269	3	4	66	1	0	0	0	0	1	0	0	0	7936	565	20	3	860	3	ITPR2	12	26568269	Missense_Mutation	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	11620683	26568269	107283626	31	4729											
KIF21A	55605	broad.mit.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	3	17	1	20	0	5	1	2	1	3	0	13	1	12	1	7	0	0	0	7	0	0	3			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000541463.2_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					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)	p.E602D(1)|p.E602E(1)		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)				cctcctcctcctcttcttcat	0.398																																					p.E615E													KIF21A,NS,carcinoma,0,2	KIF21A	238	2	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)	c.G1845A												85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605	exon14			CTCCTCCTCTTCT	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.1845G>A	12.37:g.39735383C>T			74	0	0		109	0.04	4	NM_001173464	0		0	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1																																																																																					0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403581.1		NM_017641		T	39735383	C	T	39735383	2	4	66	1	0	0	0	0	0	0	0	1	8303	680	24	3		3	KIF21A	12	39735383	Silent	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	13167114	39735383	94116512	32	4730											
KRT2	3849	mdanderson.org	37	chr12	53045777	53045777	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctccaccgaagcccccGccaccaccaccatggcggct	7	3	8	23	4	0	0	0	0	0	0	1	1	1	0	10	2	1	1	10	2	1	0	rs11835758	byFrequency	TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr12:53045777G>C	ENST00000309680.3	-	1	171	c.150C>G	c.(148-150)ggC>ggG	p.G50G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	50	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CGAAGCCCCCGCCACCACCAC	0.617																																					p.G50G													.	.			0			c.C150G												39	41	40					12																	53045777		2203	4300	6503	SO:0001819	synonymous_variant	3849	exon1			GCCCCCGCCACCA		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.150C>G	12.37:g.53045777G>C			37	0	0		50	0.04	2	NM_000423	0		0	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																					0.617	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405704.1		NM_000423		C	53045777	G	C	53045777	2	2	66	1	0	0	0	0	0	0	0	1	8472	1074	38	5		5	KRT2	12	53045777	Silent	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	13310394	53045777	80806118	33	4731											
MARS	4141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57883693	57883693	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaggagacagaatctctAgccgacattgttttgtgggg	12	10	12	7	1	1	2	0	0	1	2	2	4	1	2	1	3	1	1	1	3	3	4			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr12:57883693A>G	ENST00000262027.5	+	5	563	c.429A>G	c.(427-429)ctA>ctG	p.L143L	ARHGAP9_ENST00000550288.1_5'Flank|ARHGAP9_ENST00000393797.2_5'Flank|MARS_ENST00000315473.5_Intron|MARS_ENST00000447721.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	143	GST C-terminal.				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)	CAGAATCTCTAGCCGACATTG	0.453																																					p.L143L													.	.			0			c.A429G												164	164	164					12																	57883693		2203	4300	6503	SO:0001819	synonymous_variant	4141	exon5			ATCTCTAGCCGAC	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.429A>G	12.37:g.57883693A>G			126	0	0		234	0.19	45	NM_004990	42	0.33	14	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	A	2.315	-0.357109	0.05138	.	.	ENSG00000166986	ENST00000552371	.	.	.	4.94	-2.25	0.06888	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4963	4.8069	0.13325	0.2181:0.0:0.3937:0.3882	.	.	.	.	W	15	.	.	X	+	2	0	MARS	56169960	0.739000	0.28196	0.991000	0.47740	0.212000	0.24457	-0.097000	0.11042	-0.229000	0.09854	-0.250000	0.11733	TAG			0.453	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407014.1		NM_004990		G	57883693	A	G	57883693	2	3	66	1	0	0	0	0	0	0	0	1	9332	407	15	4		4	MARS	12	57883693	Silent	SNP	A	TCGA-2G-AALN-01A-11D-A42Y-10	4837916	57883693	75968202	34	4732											
VTI1B	10490	mdanderson.org	37	chr14	68118105	68118105	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttccctatagaagttcaAtggctgcgaaagaatttgta	12	12	8	9	1	1	2	1	0	0	2	2	3	2	2	2	1	1	3	2	1	7	6	rs115023419	byFrequency	TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr14:68118105A>G	ENST00000554659.1	-	6	1037	c.696T>C	c.(694-696)caT>caC	p.H232H	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	232					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TAGAAGTTCAATGGCTGCGAA	0.453													A|||	3	0.000599042	0.0023	0	5008	,	,		21265	0		0	False		,,,				2504	0				p.H232H													.	.			0			c.T696C							A	,	5,4401	9.9+/-24.2	0,5,2198	68	68	68		,696	-2.8	0.8	14	dbSNP_132	68	0,8600		0,0,4300	no	utr-3,coding-synonymous	ARG2,VTI1B	NM_001172.3,NM_006370.2	,	0,5,6498	GG,GA,AA		0.0,0.1135,0.0384	,	,232/233	68118105	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10490	exon6			AGTTCAATGGCTG	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.696T>C	14.37:g.68118105A>G			45	0	0		57	0.05	3	NM_006370	496	0	0	O43547|Q96J28	Silent	SNP	ENST00000554659.1	37	CCDS9786.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	0.869	-0.732691	0.03135	0.001135	0.0	ENSG00000100568	ENST00000554636	.	.	.	6.17	-2.76	0.05896	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	.	6.6102	0.22747	0.3194:0.0:0.437:0.2436	.	.	.	.	T	110	.	.	I	-	2	0	VTI1B	67187858	0.000000	0.05858	0.839000	0.33178	0.296000	0.27459	-0.869000	0.04232	-0.045000	0.13468	-0.256000	0.11100	ATT	0		0.453	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412558.2				G	68118105	A	G	68118105	2	3	66	1	0	0	0	0	0	0	0	1	17260	98	4	4		4	VTI1B	14	68118105	Silent	SNP	A	TCGA-2G-AALN-01A-11D-A42Y-10		68118105	39231435	35	4733											
MEF2A	4205	hgsc.bcm.edu	37	chr15	100211846	100211846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttgataatatgatgcGgaatcataaaatcgcagtga	16	11	10	4	2	1	3	1	3	0	0	2	5	1	5	0	2	1	1	0	2	6	4	rs75705863		TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr15:100211846G>A	ENST00000354410.5	+	5	1009	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000449277.2_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	127					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|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)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AATATGATGCGGAATCATAAA	0.353																																					p.R127Q													MEF2A_ENST00000354410,NS,carcinoma,+1,1	MEF2A_ENST00000354410	1	1	0			c.G380A												23	21	22					15																	100211846		1829	4075	5904	SO:0001583	missense	4205	exon5			TGATGCGGAATCA		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.380G>A	15.37:g.100211846G>A	ENSP00000346389:p.Arg127Gln		14	0	0		49	0.04	2	NM_005587	0		0	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000354410.5	37	CCDS45362.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210988	0.39102	.	.	ENSG00000068305	ENST00000354410	T	0.53640	0.61	5.42	5.42	0.78866	Holliday junction regulator protein family C-terminal repeat (1);	0.388740	0.29028	N	0.013366	T	0.33731	0.0873	N	0.10916	0.065	0.80722	D	1	B;B	0.29301	0.241;0.203	B;B	0.37422	0.249;0.135	T	0.11916	-1.0568	10	0.05833	T	0.94	-16.9184	19.5673	0.95398	0.0:0.0:1.0:0.0	.	127;127	Q02078;Q02078-5	MEF2A_HUMAN;.	Q	127	ENSP00000346389:R127Q	ENSP00000346389:R127Q	R	+	2	0	MEF2A	98029369	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.706000	0.92434	0.462000	0.41574	CGG			0.353	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000415980.1				A	100211846	G	A	100211846	3	1	66	1	0	0	0	0	1	0	0	0	9471	1116	39	1	526	1	MEF2A	15	100211846	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		100211846	2319546	36	4734											
SYNGR3	9143	mdanderson.org	37	chr16	2042125	2042125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccttcctcgcctgcgccGccttcctgctgctcgatgtg	2	11	11	17	4	0	0	0	0	0	0	4	2	2	0	6	0	4	2	6	0	0	2	rs367678643		TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr16:2042125G>A	ENST00000248121.2	+	2	408	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	SYNGR3_ENST00000562045.1_5'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	84	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						CGCCTGCGCCGCCTTCCTGCT	0.731																																					p.A84T													.	.			0			c.G250A							T	THR/ALA	5,4157		0,5,2076	5	6	5		250	-0.4	1	16		5	0,8278		0,0,4139	no	missense	SYNGR3	NM_004209.5	58	0,5,6215	AA,AG,GG		0.0,0.1201,0.0402	benign	84/230	2042125	5,12435	2081	4139	6220	SO:0001583	missense	9143	exon2			TGCGCCGCCTTCC	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.250G>A	16.37:g.2042125G>A	ENSP00000248121:p.Ala84Thr		22	0	0		39	0.08	3	NM_004209	2	0	0	B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	CCDS10456.1	.	.	.	.	.	.	.	.	.	.	g	12.17	1.856739	0.32791	0.001201	0.0	ENSG00000127561	ENST00000248121;ENST00000320633	T	0.28069	1.63	4.2	-0.377	0.12501	Marvel (1);MARVEL-like domain (1);	0.365927	0.30890	N	0.008677	T	0.15869	0.0382	L	0.31926	0.97	0.80722	D	1	P	0.39520	0.676	B	0.32289	0.143	T	0.05209	-1.0899	10	0.34782	T	0.22	.	7.0559	0.25099	0.0915:0.0:0.2943:0.6142	.	84	O43761	SNG3_HUMAN	T	84	ENSP00000248121:A84T	ENSP00000248121:A84T	A	+	1	0	SYNGR3	1982126	1.000000	0.71417	0.993000	0.49108	0.108000	0.19459	0.793000	0.26944	0.174000	0.19809	-0.217000	0.12591	GCC			0.731	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250616.1				A	2042125	G	A	2042125	3	1	66	1	0	0	0	0	1	0	0	0	15473	1087	38	1	256	1	SYNGR3	16	2042125	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		2042125	88312628	37	4735											
SRRM2	23524	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr16	2819139	2819139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcttcttcctcctcctcttc	0	17	0	24	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	0	0	3			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr16:2819139C>T	ENST00000301740.8	+	12	8424	c.7875C>T	c.(7873-7875)tcC>tcT	p.S2625S	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2625	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						cctcctcctcctcttcttcct	0.592																																					p.S2625S													.	.			0			c.C7875T												141	121	128					16																	2819139		2198	4300	6498	SO:0001819	synonymous_variant	23524	exon12			CTCCTCCTCTTCT	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.7875C>T	16.37:g.2819139C>T			69	0	0		89	0.06	5	NM_016333	536	0	1	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																					0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436411.1				T	2819139	C	T	2819139	2	4	66	1	0	0	0	0	0	0	0	1	15192	668	24	3		3	SRRM2	16	2819139	Silent	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	777014	2819139	87535614	38	4736											
SEPT12	124404	mdanderson.org	37	chr16	4837595	4837595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtggggtgctggggcTggagggctgcgaggacaggc	5	5	24	7	1	0	0	0	0	0	0	0	3	0	2	0	9	2	4	0	9	0	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr16:4837595T>C	ENST00000268231.8	-	2	315	c.52A>G	c.(52-54)Agc>Ggc	p.S18G	SEPT12_ENST00000591861.1_5'UTR|SEPT12_ENST00000396693.5_Missense_Mutation_p.S18G|SMIM22_ENST00000589721.1_5'Flank|SMIM22_ENST00000589327.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	18					cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GTGCTGGGGCTGGAGGGCTGC	0.632																																					p.S18G													.	.			0			c.A52G												78	61	67					16																	4837595		2197	4300	6497	SO:0001583	missense	124404	exon2			TGGGGCTGGAGGG	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.52A>G	16.37:g.4837595T>C	ENSP00000268231:p.Ser18Gly		18	0	0		38	0.08	3	NM_001154458	0		0	Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.061802	0.36373	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.53423	0.64;0.62	5.03	5.03	0.67393	.	1.093270	0.06781	N	0.785238	T	0.39436	0.1078	L	0.32530	0.975	0.26536	N	0.974168	B;B	0.12013	0.005;0.003	B;B	0.14578	0.011;0.005	T	0.17561	-1.0365	10	0.33940	T	0.23	.	8.9765	0.35939	0.0:0.0871:0.0:0.9129	.	18;18	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	G	18	ENSP00000379922:S18G;ENSP00000268231:S18G	ENSP00000268231:S18G	S	-	1	0	SEPT12	4777596	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	1.391000	0.34475	2.108000	0.64289	0.477000	0.44152	AGC			0.632	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251645.2		NM_144605		C	4837595	T	C	4837595	3	2	66	1	0	0	0	0	1	0	0	0	14085	1580	55	4	1060	4	SEPT12	16	4837595	Missense_Mutation	SNP	T	TCGA-2G-AALN-01A-11D-A42Y-10	2018456	4837595	85517158	39	4737											
INO80E	283899	bcgsc.ca	37	chr16	30016646	30016652	+	Frame_Shift_Del	DEL	TAAGATG	TAAGATG	-																															ctgacccccctcccacccccTaagatgcccccccccacgat																										TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	TAAGATG	TAAGATG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr16:30016646_30016652delTAAGATG	ENST00000563197.1	+	7	1635_1641	c.618_624delTAAGATG	c.(616-624)cctaagatgfs	p.PKM206fs	INO80E_ENST00000304516.7_Frame_Shift_Del_p.PKM167fs|INO80E_ENST00000567705.1_Frame_Shift_Del_p.PKM189fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	206	Pro-rich.				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						TCCCACCCCCTAAGATGCCCCCCCCCA	0.681																																					p.206_208del													.	INO80E	26		0			c.618_624del																																									SO:0001589	frameshift_variant	283899	exon7			ACCCCCTAAGATG	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.618_624delTAAGATG	16.37:g.30016646_30016652delTAAGATG	ENSP00000457016:p.Pro206fs		124	0	0		144	0	0	NM_173618	58	0	0	Q6Y2K3	Frame_Shift_Del	DEL	ENST00000563197.1	37	CCDS10665.1																																																																																					0.681	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255156.2		NM_173618		-	30016652	TAAGATG	-	30016646	7	5	66	1	0	1	0	1	0	0	0	0	7765	1509	53	0	644	0	INO80E	16	30016646	Frame_Shift_Del	DEL	TAAGATG	TCGA-2G-AALN-01A-11D-A42Y-10	25179051	30016646	60338107	40	4738											
ALDOA	226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30080966	30080966	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcgaccgtcacagcgctGcgccgcacagtgccccccgc	6	4	12	19	6	1	0	1	0	0	0	1	1	1	0	5	1	3	2	5	1	0	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr16:30080966G>A	ENST00000566897.1	+	10	1923	c.771G>A	c.(769-771)ctG>ctA	p.L257L	ALDOA_ENST00000563060.2_Silent_p.L257L|ALDOA_ENST00000564595.2_Silent_p.L311L|ALDOA_ENST00000338110.5_Silent_p.L257L|ALDOA_ENST00000564546.1_Silent_p.L257L|ALDOA_ENST00000412304.2_Silent_p.L257L|ALDOA_ENST00000395240.3_Silent_p.L261L|ALDOA_ENST00000569798.1_Silent_p.L257L|ALDOA_ENST00000395248.1_Silent_p.L311L|ALDOA_ENST00000569545.1_Silent_p.L257L			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	257					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						TCACAGCGCTGCGCCGCACAG	0.572																																					p.L311L													.	.			0			c.G933A												63	57	59					16																	30080966		2197	4300	6497	SO:0001819	synonymous_variant	226	exon8			AGCGCTGCGCCGC	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.771G>A	16.37:g.30080966G>A			46	0	0		33	0.39	13	NM_001243177	3837	0.38	1446	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP	ENST00000566897.1	37	CCDS10668.1																																																																																					0.572	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000435360.1		NM_000034		A	30080966	G	A	30080966	2	1	66	1	0	0	0	0	0	0	0	1	507	1306	46	2		2	ALDOA	16	30080966	Silent	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	64320	30080966	60273787	41	4739											
ITGAM	3684	mdanderson.org	37	chr16	31284807	31284807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtcatccctgaggcaGacagagagggagtcattcgc	11	7	14	9	1	2	3	2	1	0	2	4	6	3	5	1	3	0	1	1	3	0	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr16:31284807G>T	ENST00000287497.8	+	8	901	c.826G>T	c.(826-828)Gac>Tac	p.D276Y	ITGAM_ENST00000544665.3_Missense_Mutation_p.D276Y			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	276	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						CCCTGAGGCAGACAGAGAGGG	0.502																																					p.D276Y													.	.			0			c.G826T												95	89	91					16																	31284807		1985	4175	6160	SO:0001583	missense	3684	exon8			GAGGCAGACAGAG	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.826G>T	16.37:g.31284807G>T	ENSP00000287497:p.Asp276Tyr		46	0	0		46	0.07	3	NM_000632	1	0	0	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597595	0.46318	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.21932	1.98;1.98	4.81	2.84	0.33178	von Willebrand factor, type A (3);	.	.	.	.	T	0.38427	0.1040	M	0.67953	2.075	0.37138	D	0.901573	D;D	0.65815	0.995;0.995	P;P	0.62382	0.901;0.901	T	0.44513	-0.9323	9	0.87932	D	0	.	10.3678	0.44035	0.1635:0.0:0.8365:0.0	.	276;276	Q4VAK1;P11215	.;ITAM_HUMAN	Y	276	ENSP00000441691:D276Y;ENSP00000287497:D276Y	ENSP00000287497:D276Y	D	+	1	0	ITGAM	31192308	0.989000	0.36119	0.696000	0.30242	0.522000	0.34438	3.069000	0.50026	0.738000	0.32606	-0.150000	0.13652	GAC			0.502	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000432816.1		NM_000632		T	31284807	G	T	31284807	3	4	66	1	0	0	0	0	1	0	0	0	7902	942	33	3	856	3	ITGAM	16	31284807	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	1203841	31284807	59069946	42	4740											
HPR	3250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	72110949	72110949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgacttccatccagcActgggttcagaagaccatag	12	8	11	10	0	1	3	1	1	0	2	3	4	3	3	3	2	1	2	3	2	3	3			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr16:72110949A>G	ENST00000540303.2	+	5	1048	c.1016A>G	c.(1015-1017)cAc>cGc	p.H339R	HPR_ENST00000356967.5_Missense_Mutation_p.H339R|HPR_ENST00000228226.8_Missense_Mutation_p.H376R|HPR_ENST00000561690.1_3'UTR	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		H -> D (in dbSNP:rs12646). {ECO:0000269|PubMed:1478675, ECO:0000269|PubMed:2987228, ECO:0000269|PubMed:4018023}.			blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCCATCCAGCACTGGGTTCAG	0.537																																					p.H339R													.	.			0			c.A1016G												201	124	149					16																	72110949		2008	4158	6166	SO:0001583	missense	3250	exon5			TCCAGCACTGGGT	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.1016A>G	16.37:g.72110949A>G	ENSP00000441828:p.His339Arg		61	0	0		63	0.21	13	NM_020995	8	0.5	4	Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	A	2.112	-0.403507	0.04832	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.92595	-3.07;-3.07;-3.07	2.64	1.47	0.22746	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.349704	0.30989	N	0.008477	T	0.78387	0.4275	N	0.02985	-0.445	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.70103	-0.4964	10	0.72032	D	0.01	.	7.865	0.29533	0.5956:0.4044:0.0:0.0	.	339	P00739	HPTR_HUMAN	R	339;339;376	ENSP00000349451:H339R;ENSP00000441828:H339R;ENSP00000228226:H376R	ENSP00000228226:H376R	H	+	2	0	HP	70668450	1.000000	0.71417	0.583000	0.28640	0.039000	0.13416	2.197000	0.42696	0.217000	0.20800	0.338000	0.21704	CAC			0.537	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421696.1		NM_020995		G	72110949	A	G	72110949	3	3	66	1	0	0	0	0	1	0	0	0	7352	159	6	4	1034	4	HPR	16	72110949	Missense_Mutation	SNP	A	TCGA-2G-AALN-01A-11D-A42Y-10	40826142	72110949	18243804	43	4741											
CHST5	23563	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	75563575	75563575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgtgccagtatcgggccCgccgcctcccgggagcgcag	4	5	15	17	7	0	0	0	0	0	0	3	1	1	1	5	2	2	2	5	2	1	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr16:75563575C>T	ENST00000336257.3	-	3	2102	c.708G>A	c.(706-708)gcG>gcA	p.A236A	CHST5_ENST00000541075.1_Silent_p.A242A|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	236					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						GTATCGGGCCCGCCGCCTCCC	0.716																																					p.A236A													CHST5,NS,carcinoma,-2,1	CHST5	-2	1	0			c.G708A												24	29	28					16																	75563575		2186	4265	6451	SO:0001819	synonymous_variant	23563	exon3			CGGGCCCGCCGCC	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.708G>A	16.37:g.75563575C>T			32	0	0		47	0.19	9	NM_024533	0		0	B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	CCDS10919.1																																																																																					0.716	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269025.2		NM_012126		T	75563575	C	T	75563575	2	4	66	1	0	0	0	0	0	0	0	1	3409	639	23	1		1	CHST5	16	75563575	Silent	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	3452626	75563575	14791178	44	4742											
TMEM107	84314	broad.mit.edu	37	chr17	8079145	8079145	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagctccactgcaaagagGcccagggtgacagagagcgc	11	3	14	13	1	0	3	0	1	0	2	1	4	1	3	3	2	3	2	3	2	1	0	rs369840510		TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr17:8079145G>T	ENST00000437139.2	-	3	273	c.186C>A	c.(184-186)ggC>ggA	p.G62G	TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000532998.1_Silent_p.G62G|TMEM107_ENST00000316425.5_Silent_p.G68G|RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000533070.1_Silent_p.G68G|SNORD118_ENST00000363593.1_RNA	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	62					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						CTGCAAAGAGGCCCAGGGTGA	0.592																																					p.G68G													.	TMEM107	16		0			c.C204A												84	89	87					17																	8079145		2203	4300	6503	SO:0001819	synonymous_variant	84314	exon3			AAAGAGGCCCAGG	AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.186C>A	17.37:g.8079145G>T			93	0	0		133	0.03	4	NM_032354	33	0	0	A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Silent	SNP	ENST00000437139.2	37	CCDS45607.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296859	0.23650	.	.	ENSG00000179029	ENST00000415860	.	.	.	5.75	3.71	0.42584	.	.	.	.	.	T	0.59810	0.2221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62742	-0.6790	5	0.87932	D	0	-11.8545	4.0693	0.09874	0.0849:0.162:0.5851:0.168	.	.	.	.	D	93	.	ENSP00000392476:A93D	A	-	2	0	TMEM107	8019870	0.998000	0.40836	1.000000	0.80357	0.891000	0.51852	0.328000	0.19681	1.381000	0.46364	0.551000	0.68910	GCC			0.592	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388844.1		NM_032354		T	8079145	G	T	8079145	2	4	66	1	0	0	0	0	0	0	0	1	16046	1190	42	2		2	TMEM107	17	8079145	Silent	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		8079145	73116065	45	4743											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		170	0.0764705882	13		248	0.08	21	NM_145301	36	0.44	16	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	66	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	7377942	15457087	65738123	46	4744											
C17orf101	79701	mdanderson.org	37	chr17	80361815	80361815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgggcgcgctcacctTgtccacgtgcgcatgccagt	5	7	12	17	5	1	0	1	0	0	0	2	0	2	0	4	1	2	2	4	1	0	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr17:80361815T>C	ENST00000313056.5	-	7	848	c.697A>G	c.(697-699)Aag>Gag	p.K233E	OGFOD3_ENST00000329197.5_Missense_Mutation_p.K233E|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	233	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	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)										GCGCTCACCTTGTCCACGTGC	0.677																																					p.K233E													C17orf101_ENST00000313056,right_lower_lobe,carcinoma,+2,2	C17orf101_ENST00000313056	2	2	0			c.A697G												75	56	62					17																	80361815		2203	4300	6503	SO:0001583	missense	79701	exon7			TCACCTTGTCCAC	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.697A>G	17.37:g.80361815T>C	ENSP00000320116:p.Lys233Glu		17	0	0		27	0.11	3	NM_175902	76	0	0	C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501299	0.85176	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.58652	0.32;1.0	5.32	4.22	0.49857	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.82193	2.58	0.53005	D	0.999969	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.975	T	0.76564	-0.2913	10	0.62326	D	0.03	-35.2441	10.4469	0.44499	0.1462:0.0:0.0:0.8538	.	233;233	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	E	233	ENSP00000320116:K233E;ENSP00000330075:K233E	ENSP00000320116:K233E	K	-	1	0	C17orf101	77955104	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.657000	0.61490	0.823000	0.34589	0.533000	0.62120	AAG			0.677	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442895.1		NM_175902		C	80361815	T	C	80361815	3	2	66	1	0	0	0	0	1	0	0	0	1850	1821	63	4	451	4	C17orf101	17	80361815	Missense_Mutation	SNP	T	TCGA-2G-AALN-01A-11D-A42Y-10	64904728	80361815	833395	47	4745											
SEMA6B	10501	bcgsc.ca	37	chr19	4550280	4550280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggggctgcgcagcaccCgggcctgggggtgacaaggg	5	3	20	13	3	0	1	0	1	0	0	0	1	0	1	3	6	2	3	3	6	1	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr19:4550280C>T	ENST00000586582.1	-	12	1436	c.1126G>A	c.(1126-1128)Ggg>Agg	p.G376R	SEMA6B_ENST00000301293.3_Missense_Mutation_p.G376R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.G376R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	376	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)		GCGCAGCACCCGGGCCTGGGG	0.597																																					p.G376R													SEMA6B,colon,carcinoma,0,1	SEMA6B	51	1	0			c.G1126A												40	41	40					19																	4550280		2201	4291	6492	SO:0001583	missense	10501	exon12			AGCACCCGGGCCT	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.1126G>A	19.37:g.4550280C>T	ENSP00000467290:p.Gly376Arg		65	0	0		76	0.05	4	NM_032108	57	0	0	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	16.30	3.084092	0.55861	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.31510	1.49	2.6	2.6	0.31112	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	U	0.000000	T	0.66489	0.2794	H	0.96604	3.85	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78979	-0.1990	10	0.87932	D	0	.	12.9003	0.58121	0.0:1.0:0.0:0.0	.	376;376	B4DT36;Q9H3T3	.;SEM6B_HUMAN	R	376	ENSP00000301293:G376R	ENSP00000301292:G376R	G	-	1	0	SEMA6B	4501280	1.000000	0.71417	0.972000	0.41901	0.247000	0.25773	7.337000	0.79256	1.795000	0.52594	0.478000	0.44815	GGG			0.597	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458656.2		NM_032108		T	4550280	C	T	4550280	3	4	66	1	0	0	0	0	1	0	0	0	14063	652	23	1	1564	1	SEMA6B	19	4550280	Missense_Mutation	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10		4550280	54578703	48	4746											
SSBP4	170463	mdanderson.org	37	chr19	18544013	18544013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggagcctcaccacgtgaaCggatccctgggtgagtgggc	8	7	15	11	2	1	2	1	2	0	0	2	4	2	4	3	4	2	0	3	4	1	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr19:18544013C>T	ENST00000270061.7	+	15	1275	c.981C>T	c.(979-981)aaC>aaT	p.N327N	SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000348495.6_Silent_p.N305N	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	327						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						ACCACGTGAACGGATCCCTGG	0.746																																					p.N327N													.	.			0			c.C981T												15	14	14					19																	18544013		2174	4265	6439	SO:0001819	synonymous_variant	170463	exon15			CGTGAACGGATCC		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.981C>T	19.37:g.18544013C>T			22	0	0		44	0.07	3	NM_032627	137	0	0	Q9BWW5	Silent	SNP	ENST00000270061.7	37	CCDS12378.1																																																																																					0.746	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000466348.3		NM_032627		T	18544013	C	T	18544013	2	4	66	1	0	0	0	0	0	0	0	1	15205	535	19	1		1	SSBP4	19	18544013	Silent	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	13993733	18544013	40584970	49	4747											
UPF1	5976	mdanderson.org	37	chr19	18971687	18971687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagttgctgaaggcaggcGccaagccggaccagattggc	10	5	15	11	3	0	2	0	1	0	1	0	4	0	3	3	4	2	3	3	4	3	2			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr19:18971687G>A	ENST00000599848.1	+	17	2595	c.2386G>A	c.(2386-2388)Gcc>Acc	p.A796T	UPF1_ENST00000262803.5_Missense_Mutation_p.A785T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	796					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						GAAGGCAGGCGCCAAGCCGGA	0.607																																					p.A785T													.	.			0			c.G2353A												71	49	57					19																	18971687		2198	4300	6498	SO:0001583	missense	5976	exon17			GCAGGCGCCAAGC	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.2386G>A	19.37:g.18971687G>A	ENSP00000470142:p.Ala796Thr		37	0	0		42	0.07	3	NM_002911	41	0	0	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	G	17.42	3.385186	0.61956	.	.	ENSG00000005007	ENST00000262803	D	0.81908	-1.55	4.52	4.52	0.55395	.	0.111727	0.64402	D	0.000009	T	0.68449	0.3002	N	0.04724	-0.175	0.80722	D	1	B;B	0.15473	0.013;0.01	B;B	0.16722	0.016;0.009	T	0.67417	-0.5676	10	0.62326	D	0.03	-32.8017	14.4046	0.67073	0.0:0.0:1.0:0.0	.	796;785	Q92900;Q92900-2	RENT1_HUMAN;.	T	785	ENSP00000262803:A785T	ENSP00000262803:A785T	A	+	1	0	UPF1	18832687	1.000000	0.71417	0.818000	0.32626	0.679000	0.39708	9.425000	0.97467	2.053000	0.61076	0.561000	0.74099	GCC			0.607	UPF1-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000464684.1		NM_002911		A	18971687	G	A	18971687	3	1	66	1	0	0	0	0	1	0	0	0	17027	1087	38	1	2419	1	UPF1	19	18971687	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	427674	18971687	40157296	50	4748											
HAUS5	23354	mdanderson.org	37	chr19	36109839	36109839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcctgtggacggagctcaAggccctgcacgatcagagcc	8	7	13	13	2	2	1	2	0	0	1	2	4	2	3	3	3	4	2	3	3	1	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr19:36109839A>G	ENST00000203166.5	+	13	1092	c.1067A>G	c.(1066-1068)aAg>aGg	p.K356R	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	356					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						ACGGAGCTCAAGGCCCTGCAC	0.627																																					p.K356R													.	.			0			c.A1067G												45	45	45					19																	36109839		2035	4185	6220	SO:0001583	missense	23354	exon13			AGCTCAAGGCCCT	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1067A>G	19.37:g.36109839A>G	ENSP00000439056:p.Lys356Arg		52	0	0		44	0.07	3	NM_015302	19	0	0	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	A	9.228	1.035146	0.19590	.	.	ENSG00000249115	ENST00000203166	T	0.29397	1.57	5.08	2.96	0.34315	.	0.185186	0.46758	N	0.000263	T	0.22205	0.0535	L	0.41824	1.3	0.80722	D	1	B	0.13594	0.008	B	0.14578	0.011	T	0.05370	-1.0889	10	0.49607	T	0.09	-9.1043	5.9759	0.19379	0.784:0.0:0.216:0.0	.	356	O94927	HAUS5_HUMAN	R	356	ENSP00000439056:K356R	ENSP00000439056:K356R	K	+	2	0	HAUS5	40801679	0.993000	0.37304	1.000000	0.80357	0.239000	0.25481	0.092000	0.15066	0.416000	0.25844	0.460000	0.39030	AAG			0.627	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459055.2				G	36109839	A	G	36109839	3	3	66	1	0	0	0	0	1	0	0	0	6984	72	3	4	1117	4	HAUS5	19	36109839	Missense_Mutation	SNP	A	TCGA-2G-AALN-01A-11D-A42Y-10	17138152	36109839	23019144	51	4749											
PREX1	57580	mdanderson.org	37	chr20	47324813	47324813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacctcccagccttcgatGtgggactgcagctgctccag	7	8	10	16	1	0	0	0	0	0	0	3	2	2	1	4	1	4	3	4	1	0	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr20:47324813G>T	ENST00000371941.3	-	6	790	c.768C>A	c.(766-768)caC>caA	p.H256Q	PREX1_ENST00000396220.1_Missense_Mutation_p.H256Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	256					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)			AGCCTTCGATGTGGGACTGCA	0.622																																					p.H256Q													.	.			0			c.C768A												91	89	89					20																	47324813		2203	4300	6503	SO:0001583	missense	57580	exon6			TTCGATGTGGGAC	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.768C>A	20.37:g.47324813G>T	ENSP00000361009:p.His256Gln		35	0	0		47	0.06	3	NM_020820	10	0	0	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740906	0.69304	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	D;D	0.87256	-2.23;-2.23	5.64	5.64	0.86602	Dbl homology (DH) domain (2);	0.000000	0.64402	U	0.000020	D	0.86347	0.5911	N	0.24115	0.695	0.58432	D	0.99999	D	0.56968	0.978	P	0.57502	0.822	D	0.86358	0.1715	10	0.45353	T	0.12	.	13.9252	0.63958	0.0724:0.0:0.9276:0.0	.	256	Q8TCU6	PREX1_HUMAN	Q	256	ENSP00000361009:H256Q;ENSP00000379522:H256Q	ENSP00000361009:H256Q	H	-	3	2	PREX1	46758220	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	2.991000	0.49409	2.657000	0.90304	0.655000	0.94253	CAC			0.622	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079623.1		NM_020820		T	47324813	G	T	47324813	3	4	66	1	0	0	0	0	1	0	0	0	12496	1368	48	3	4351	3	PREX1	20	47324813	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		47324813	15700707	52	4750											
RNF114	55905	mdanderson.org	37	chr20	48558160	48558160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtctgtggggtgtgtcGcagcgctctggcacctggcg	2	10	17	12	3	2	0	0	0	2	0	3	0	2	0	2	4	1	3	2	4	0	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr20:48558160G>A	ENST00000244061.2	+	2	205	c.203G>A	c.(202-204)cGc>cAc	p.R68H	snoU13_ENST00000459122.1_RNA	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	68					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R68H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						GGGGTGTGTCGCAGCGCTCTG	0.557																																					p.R68H													RNF114,NS,carcinoma,0,1	RNF114	0	1	1	Substitution - Missense(1)	endometrium(1)	c.G203A												118	118	118					20																	48558160		2203	4300	6503	SO:0001583	missense	55905	exon2			TGTGTCGCAGCGC	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"RING-type (C3HC4) zinc fingers"	13094	protein-coding gene	gene with protein product		612451	"zinc finger protein 313"	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.203G>A	20.37:g.48558160G>A	ENSP00000244061:p.Arg68His		38	0	0		47	0.06	3	NM_018683	132	0	0	B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385817	0.95967	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.23950	1.88	5.86	5.86	0.93980	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.942;0.98	T	0.64774	-0.6328	10	0.72032	D	0.01	-12.4235	17.0991	0.86644	0.0:0.0:1.0:0.0	.	68;68	Q9Y508-2;Q9Y508	.;RN114_HUMAN	H	68	ENSP00000244061:R68H	ENSP00000244061:R68H	R	+	2	0	RNF114	47991567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.797000	0.85911	2.771000	0.95319	0.650000	0.86243	CGC			0.557	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079663.1		NM_018683		A	48558160	G	A	48558160	3	1	66	1	0	0	0	0	1	0	0	0	13452	1087	38	1	209	1	RNF114	20	48558160	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	1233347	48558160	14467360	53	4751											
ERG	2078	ucsc.edu;bcgsc.ca	37	chr21	39947610	39947610	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatgagctgctgggtccggGacagtctgaatcatgtcctt	8	12	12	9	1	2	2	1	2	1	0	4	3	4	3	2	2	2	2	2	2	2	2			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr21:39947610G>T	ENST00000417133.2	-	3	200	c.15C>A	c.(13-15)gtC>gtA	p.V5V	ERG_ENST00000398919.2_Silent_p.V5V|ERG_ENST00000398911.1_Silent_p.V5V|ERG_ENST00000398910.1_Silent_p.V5V|ERG_ENST00000442448.1_Silent_p.V5V|ERG_ENST00000485493.1_5'UTR|ERG_ENST00000398897.1_5'UTR	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					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)	CTGGGTCCGGGACAGTCTGAA	0.483			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																p.V5V	Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	.	ERG	78		0			c.C15A												109	89	96					21																	39947610		2203	4300	6503	SO:0001819	synonymous_variant	2078	exon3			GTCCGGGACAGTC		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.15C>A	21.37:g.39947610G>T			28	0	0		28	0.14	4	NM_004449	1	0	0	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	CCDS46648.1																																																																																					0.483	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207532.2		NM_182918		T	39947610	G	T	39947610	2	4	66	1	0	0	0	0	0	0	0	1	5229	1161	41	3		3	ERG	21	39947610	Silent	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		39947610	8182285	54	4752											
ZNF74	7625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	20759727	20759727	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaagaagaaccggcccAggagcccatcatggagcggc	12	4	13	12	2	1	2	1	0	0	2	1	4	1	4	3	4	4	1	3	4	3	1			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr22:20759727A>T	ENST00000400451.2	+	5	918	c.404A>T	c.(403-405)cAg>cTg	p.Q135L	ZNF74_ENST00000357502.5_Silent_p.P140P|ZNF74_ENST00000405993.1_Missense_Mutation_p.Q103L|ZNF74_ENST00000403682.3_Silent_p.P106P|ZNF74_ENST00000356671.5_Missense_Mutation_p.Q135L	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	135					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)			GAACCGGCCCAGGAGCCCATC	0.627																																					p.Q135L													.	.			0			c.A404T												46	52	50					22																	20759727		1868	4089	5957	SO:0001583	missense	7625	exon5			CGGCCCAGGAGCC	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.404A>T	22.37:g.20759727A>T	ENSP00000383301:p.Gln135Leu		108	0	0		196	0.12	23	NM_003426	6	0.67	4	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847144	0.32606	.	.	ENSG00000185252	ENST00000400451;ENST00000420626;ENST00000356671;ENST00000405993	T;T;T;T	0.58797	3.36;0.31;3.36;3.31	4.59	-6.35	0.01975	.	1.046330	0.07647	N	0.931250	T	0.35998	0.0951	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24728	-1.0152	10	0.29301	T	0.29	-17.8933	0.1931	0.00136	0.2866:0.2141:0.1597:0.3396	.	135	Q16587	ZNF74_HUMAN	L	135;32;135;103	ENSP00000383301:Q135L;ENSP00000397011:Q32L;ENSP00000349098:Q135L;ENSP00000385855:Q103L	ENSP00000349098:Q135L	Q	+	2	0	ZNF74	19089727	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.482000	0.02320	-1.068000	0.03156	-1.142000	0.01873	CAG			0.627	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319648.2		NM_003426		T	20759727	A	T	20759727	3	4	66	1	0	0	0	0	1	0	0	0	18150	188	7	5	422	5	ZNF74	22	20759727	Missense_Mutation	SNP	A	TCGA-2G-AALN-01A-11D-A42Y-10		20759727	30544839	55	4753											
OSBP2	23762	mdanderson.org	37	chr22	31285598	31285598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaagaactgcatcggccGggagctctccaggatcccca	10	6	11	14	2	1	2	0	1	1	1	4	4	2	4	4	3	3	2	4	3	2	0			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chr22:31285598G>T	ENST00000332585.6	+	7	1702	c.1598G>T	c.(1597-1599)cGg>cTg	p.R533L	OSBP2_ENST00000535268.1_Missense_Mutation_p.R77L|OSBP2_ENST00000407373.1_Missense_Mutation_p.R360L|OSBP2_ENST00000403222.3_Missense_Mutation_p.R367L|OSBP2_ENST00000437268.2_Missense_Mutation_p.R275L|OSBP2_ENST00000446658.2_Missense_Mutation_p.R532L|OSBP2_ENST00000401475.1_Missense_Mutation_p.R166L|OSBP2_ENST00000382310.3_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	533					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGCATCGGCCGGGAGCTCTCC	0.607																																					p.R533L													.	.			0			c.G1598T												84	93	90					22																	31285598		2060	4225	6285	SO:0001583	missense	23762	exon7			TCGGCCGGGAGCT		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1598G>T	22.37:g.31285598G>T	ENSP00000332576:p.Arg533Leu		45	0	0		77	0.05	4	NM_030758	13	0	0	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.150512|3.150512	0.57151|0.57151	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000454145;ENST00000453621;ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57;1.57;1.65;1.57;1.57;1.57	5.03|5.03	2.86|2.86	0.33363|0.33363	.|.	.|0.056021	.|0.64402	.|D	.|0.000001	T|T	0.24967|0.24967	0.0606|0.0606	N|N	0.12471|0.12471	0.22|0.22	0.80722|0.80722	D|D	1|1	.|P;P;P;P;D;D	.|0.56746	.|0.706;0.75;0.75;0.75;0.977;0.977	.|P;P;P;P;P;P	.|0.56960	.|0.482;0.617;0.617;0.617;0.81;0.81	T|T	0.06250|0.06250	-1.0837|-1.0837	5|10	.|0.62326	.|D	.|0.03	-24.3652|-24.3652	4.5315|4.5315	0.12008|0.12008	0.4076:0.0:0.5924:0.0|0.4076:0.0:0.5924:0.0	.|.	.|275;367;275;360;532;533	.|F5H2A3;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;OSBP2_HUMAN	W|L	195;204;205|367;360;533;532;166;167;275;77;164	.|ENSP00000384213:R367L;ENSP00000385237:R360L;ENSP00000332576:R533L;ENSP00000392080:R532L;ENSP00000385254:R166L;ENSP00000388575:R167L;ENSP00000389200:R275L;ENSP00000438713:R77L;ENSP00000409838:R164L	.|ENSP00000332576:R533L	G|R	+|+	1|2	0|0	OSBP2|OSBP2	29615598|29615598	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.045000|0.045000	0.14185|0.14185	7.400000|7.400000	0.79949|0.79949	1.362000|1.362000	0.46000|0.46000	-0.136000|-0.136000	0.14681|0.14681	GGG|CGG			0.607	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000321547.2		NM_030758		T	31285598	G	T	31285598	3	4	66	1	0	0	0	0	1	0	0	0	11291	1116	39	1	1624	1	OSBP2	22	31285598	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10	10525871	31285598	20018968	56	4754											
ZDHHC15	158866	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	74698772	74698772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaagatagacttccagtagGtccaggtaaagaacacaaag	18	7	9	7	0	0	3	0	0	0	3	2	3	2	3	2	2	1	2	2	2	8	5			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chrX:74698772G>T	ENST00000373367.3	-	3	442	c.212C>A	c.(211-213)aCc>aAc	p.T71N	ZDHHC15_ENST00000373361.3_Missense_Mutation_p.T71N|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.T62N	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	71					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|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(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CTTCCAGTAGGTCCAGGTAAA	0.338																																					p.T71N													.	ZDHHC15	65		0			c.C212A												82	68	72					X																	74698772		2203	4300	6503	SO:0001583	missense	158866	exon3			CAGTAGGTCCAGG	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.212C>A	X.37:g.74698772G>T	ENSP00000362465:p.Thr71Asn		28	0	0		73	0.07	5	NM_144969	6	0	0	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921273	0.73213	.	.	ENSG00000102383	ENST00000373367;ENST00000541184;ENST00000373361	T;T;T	0.24350	1.86;1.86;1.86	5.73	5.73	0.89815	.	0.046482	0.85682	D	0.000000	T	0.35038	0.0918	N	0.25245	0.725	0.52099	D	0.999943	D;B;P	0.71674	0.998;0.132;0.949	D;B;P	0.66351	0.943;0.105;0.777	T	0.08973	-1.0696	10	0.49607	T	0.09	-11.4774	14.0773	0.64897	0.0:0.0:1.0:0.0	.	62;62;71	Q96MV8-2;B3KVG7;Q96MV8	.;.;ZDH15_HUMAN	N	71;62;71	ENSP00000362465:T71N;ENSP00000445420:T62N;ENSP00000362459:T71N	ENSP00000362459:T71N	T	-	2	0	ZDHHC15	74615497	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.168000	0.64978	2.397000	0.81536	0.544000	0.68410	ACC			0.338	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057283.1		NM_144969		T	74698772	G	T	74698772	3	4	66	1	0	0	0	0	1	0	0	0	17628	1261	44	3	917	3	ZDHHC15	23	74698772	Missense_Mutation	SNP	G	TCGA-2G-AALN-01A-11D-A42Y-10		74698772	80571788	57	4755											
HCFC1	3054	bcgsc.ca	37	chrX	153217302	153217302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgcttactctcagtggcCgttgagggcagcagcgccac	7	8	13	13	3	1	1	1	1	1	0	3	1	1	1	2	2	3	4	2	2	1	2			TCGA-2G-AALN-01A-11D-A42Y-10	TCGA-2G-AALN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	540debee-4ab6-4a72-a38d-21a2f4f90905	b8f3aa4c-e160-4a5a-a935-b66ecb5011f2	g.chrX:153217302C>T	ENST00000310441.7	-	20	6216	c.5250G>A	c.(5248-5250)acG>acA	p.T1750T	HCFC1_ENST00000354233.3_Silent_p.T1681T|HCFC1_ENST00000369984.4_Silent_p.T1795T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1750					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)					TCTCAGTGGCCGTTGAGGGCA	0.657																																					p.T1750T													.	HCFC1	284		0			c.G5250A												17	19	18					X																	153217302		2002	4120	6122	SO:0001819	synonymous_variant	3054	exon20			AGTGGCCGTTGAG		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.5250G>A	X.37:g.153217302C>T			32	0	0		67	0.06	4	NM_005334	44	0	0	Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	4.647	0.120342	0.08881	.	.	ENSG00000172534	ENST00000444191	.	.	.	5.03	-7.64	0.01286	.	.	.	.	.	T	0.62368	0.2422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67883	-0.5555	4	.	.	.	.	15.9763	0.80066	0.0:0.6473:0.0:0.3527	.	.	.	.	S	326	.	.	G	-	1	0	HCFC1	152870496	0.006000	0.16342	0.415000	0.26534	0.414000	0.31173	-1.295000	0.02764	-2.003000	0.00962	-0.527000	0.04329	GGC			0.657	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061099.4		NM_005334		T	153217302	C	T	153217302	2	4	66	1	0	0	0	0	0	0	0	1	7006	639	23	1		1	HCFC1	23	153217302	Silent	SNP	C	TCGA-2G-AALN-01A-11D-A42Y-10	78518530	153217302	2053258	58	4756											
PRAMEF2	65122	mdanderson.org	37	chr1	12919682	12919682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggactgtccaaggaCgggagagcaccagcccttaa	13	4	13	11	1	0	2	0	0	0	2	1	5	1	4	3	3	3	2	3	3	2	1	rs202143308	byFrequency	TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr1:12919682C>T	ENST00000240189.2	+	3	509	c.422C>T	c.(421-423)aCg>aTg	p.T141M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	141			T -> M (in dbSNP:rs17038667).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCAAGGACGGGAGAGCAC	0.542													.|||	26	0.00519169	0.0015	0.013	5008	,	,		21797	0.004		0.005	False		,,,				2504	0.0061				p.T141M													.	.			0			c.C422T												147	159	155					1																	12919682		2202	4297	6499	SO:0001583	missense	65122	exon3			CAAGGACGGGAGA		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.422C>T	1.37:g.12919682C>T	ENSP00000240189:p.Thr141Met		135	0.0074074074	1		74	0.07	5	NM_023014	0		0		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.012579	0.00042	.	.	ENSG00000120952	ENST00000240189	T	0.04603	3.59	0.842	-1.68	0.08212	.	4.939980	0.00659	N	0.000592	T	0.03651	0.0104	N	0.16708	0.43	0.09310	N	1	B	0.12013	0.005	B	0.24541	0.054	T	0.41893	-0.9483	10	0.23891	T	0.37	.	2.6324	0.04948	0.2266:0.3763:0.0:0.3971	.	141	O60811	PRAM2_HUMAN	M	141	ENSP00000240189:T141M	ENSP00000240189:T141M	T	+	2	0	PRAMEF2	12842269	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.908000	0.00700	-2.798000	0.00353	-2.532000	0.00182	ACG			0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005517.1		NM_023014		T	12919682	C	T	12919682	3	4	67	1	0	0	0	0	1	0	0	0	12455	536	19	1	428	1	PRAMEF2	1	12919682	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10		12919682	236330939	1	4757											
BCL2L15	440603	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	114429213	114429213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagcttccaattctccGttgaactggtcacccaacat	11	10	7	13	1	2	2	1	1	1	1	4	2	3	2	3	1	3	3	3	1	4	3	rs75493886	byFrequency	TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr1:114429213G>A	ENST00000393316.3	-	2	366	c.195C>T	c.(193-195)aaC>aaT	p.N65N	BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Silent_p.N65N|AP4B1-AS1_ENST00000419536.1_RNA	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	65					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-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)		CCAATTCTCCGTTGAACTGGT	0.423													G|||	2	0.000399361	0	0	5008	,	,		18308	0.002		0	False		,,,				2504	0				p.N65N													BCL2L15,rectum,carcinoma,-1,2	BCL2L15	-1	2	0			c.C195T							G		0,4406		0,0,2203	129	112	117		195	-1.6	0.3	1	dbSNP_131	117	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	BCL2L15	NM_001010922.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		65/164	114429213	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	440603	exon2			TTCTCCGTTGAAC		CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 178"	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.195C>T	1.37:g.114429213G>A			81	0	0		72	0.08	6	NM_001010922	101	0	0	A0PJY6|A8K074|I6LA82	Silent	SNP	ENST00000393316.3	37	CCDS30809.1																																																																																			0		0.423	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033026.2		NM_001010922		A	114429213	G	A	114429213	2	1	67	1	0	0	0	0	0	0	0	1	1373	1136	40	1		1	BCL2L15	1	114429213	Silent	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	101509531	114429213	134821408	2	4758											
TRIM46	80128	mdanderson.org	37	chr1	155156381	155156381	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagatcctgctggggtcGggggcaagctcaaacgcagg	9	5	17	10	2	1	1	1	0	0	1	3	1	2	1	1	6	3	5	1	6	3	0			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr1:155156381G>T	ENST00000334634.4	+	10	1995	c.1995G>T	c.(1993-1995)tcG>tcT	p.S665S	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.S539S|TRIM46_ENST00000392451.2_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000368382.1_Silent_p.S642S	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	665	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)			TGCTGGGGTCGGGGGCAAGCT	0.672																																					p.S665S													.	.			0			c.G1995T												59	61	60					1																	155156381		2203	4300	6503	SO:0001819	synonymous_variant	80128	exon10			GGGGTCGGGGGCA		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.1995G>T	1.37:g.155156381G>T			21	0	0		35	0.09	3	NM_025058	0		0	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	37	CCDS1097.1																																																																																					0.672	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086728.1		NM_025058		T	155156381	G	T	155156381	2	4	67	1	0	0	0	0	0	0	0	1	16545	1103	39	1		1	TRIM46	1	155156381	Silent	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	40727168	155156381	94094240	3	4759											
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186055461	186055461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacctgtgaggtctctGgttttccacctcctgacctc	4	15	8	14	0	1	3	0	3	1	0	5	3	3	3	5	2	0	1	5	2	0	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr1:186055461G>A	ENST00000271588.4	+	58	9197	c.8968G>A	c.(8968-8970)Ggt>Agt	p.G2990S	HMCN1_ENST00000367492.2_Missense_Mutation_p.G2990S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2990	Ig-like C2-type 28.				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						TGAGGTCTCTGGTTTTCCACC	0.398																																					p.G2990S													HMCN1,NS,carcinoma,-2,1	HMCN1	-2	1	0			c.G8968A												120	114	116					1																	186055461		2203	4300	6503	SO:0001583	missense	83872	exon58			GTCTCTGGTTTTC	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.8968G>A	1.37:g.186055461G>A	ENSP00000271588:p.Gly2990Ser		148	0	0		155	0.27	42	NM_031935	0		0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082106	0.94050	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79653	-1.29;-1.29	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86680	0.1916	10	0.33940	T	0.23	.	19.6094	0.95599	0.0:0.0:1.0:0.0	.	2990	Q96RW7	HMCN1_HUMAN	S	2990	ENSP00000271588:G2990S;ENSP00000356462:G2990S	ENSP00000271588:G2990S	G	+	1	0	HMCN1	184322084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.430000	0.97488	2.626000	0.88956	0.563000	0.77884	GGT			0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131848.1		NM_031935		A	186055461	G	A	186055461	3	1	67	1	0	0	0	0	1	0	0	0	7235	1348	47	3	9198	3	HMCN1	1	186055461	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	30899080	186055461	63195160	4	4760											
PROM2	150696	mdanderson.org	37	chr2	95953990	95953990	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgccacctgccagccccTctccggagccctggacaaca	8	6	8	19	1	1	0	0	0	1	0	2	2	1	2	7	2	5	0	7	2	1	1			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr2:95953990T>C	ENST00000317620.9	+	21	2409	c.2276T>C	c.(2275-2277)cTc>cCc	p.L759P	PROM2_ENST00000403131.2_Missense_Mutation_p.L759P|PROM2_ENST00000317668.4_Missense_Mutation_p.L759P|PROM2_ENST00000542147.1_Missense_Mutation_p.L710P	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	759					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						TGCCAGCCCCTCTCCGGAGCC	0.612																																					p.L759P													.	.			0			c.T2276C												106	106	106					2																	95953990		2203	4300	6503	SO:0001583	missense	150696	exon21			AGCCCCTCTCCGG	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.2276T>C	2.37:g.95953990T>C	ENSP00000318270:p.Leu759Pro		42	0	0		43	0.07	3	NM_001165977	9	0	0	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629909	0.67015	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.58	5.58	0.84498	.	0.196847	0.35646	N	0.003066	T	0.68165	0.2971	M	0.67953	2.075	0.58432	D	0.999999	D	0.67145	0.996	D	0.66979	0.948	T	0.71781	-0.4489	10	0.87932	D	0	-14.2786	12.1502	0.54046	0.0:0.0:0.0:1.0	.	759	Q8N271	PROM2_HUMAN	P	759;759;759;710	ENSP00000385716:L759P;ENSP00000318520:L759P;ENSP00000318270:L759P;ENSP00000442542:L710P	ENSP00000318270:L759P	L	+	2	0	PROM2	95317717	0.990000	0.36364	0.997000	0.53966	0.704000	0.40688	4.762000	0.62250	2.135000	0.66039	0.533000	0.62120	CTC			0.612	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252771.1		NM_144707		C	95953990	T	C	95953990	3	2	67	1	0	0	0	0	1	0	0	0	12576	1551	54	4	2358	4	PROM2	2	95953990	Missense_Mutation	SNP	T	TCGA-2G-AALO-01A-12D-A42Y-10		95953990	147245383	5	4761											
UBR3	130507	bcgsc.ca;mdanderson.org	37	chr2	170728847	170728847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaagatttatattttGtcttattcagtacttaagag	11	19	5	6	0	3	2	1	0	2	2	4	2	4	2	1	0	1	1	1	0	6	10			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr2:170728847G>T	ENST00000272793.5	+	2	697	c.647G>T	c.(646-648)tGt>tTt	p.C216F	UBR3_ENST00000418381.1_Missense_Mutation_p.C216F			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	216					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						TTTATATTTTGTCTTATTCAG	0.284																																					p.C216F													.	UBR3	182		0			c.G647T												107	97	100					2																	170728847		692	1579	2271	SO:0001583	missense	130507	exon2			TATTTTGTCTTAT	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.647G>T	2.37:g.170728847G>T	ENSP00000272793:p.Cys216Phe		91	0	0		88	0.06	5	NM_172070	5	0	0	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	G	7.544	0.661277	0.14645	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.53423	0.62;0.62	5.59	5.59	0.84812	.	.	.	.	.	T	0.27241	0.0668	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13656	-1.0501	9	0.10377	T	0.69	.	10.107	0.42539	0.1484:0.0:0.8516:0.0	.	216	Q6ZT12	UBR3_HUMAN	F	216	ENSP00000272793:C216F;ENSP00000396068:C216F	ENSP00000272793:C216F	C	+	2	0	UBR3	170437093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.696000	0.54757	2.626000	0.88956	0.591000	0.81541	TGT			0.284	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255290.2		NM_172070		T	170728847	G	T	170728847	3	4	67	1	0	0	0	0	1	0	0	0	16927	1377	48	3	653	3	UBR3	2	170728847	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	74774857	170728847	72470526	6	4762											
XRCC5	7520	mdanderson.org	37	chr2	216990649	216990649	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttattaagtgagagtctGagaaaactgtgcgtcttcaa	12	14	9	6	1	4	2	1	2	3	2	4	4	4	2	0	0	2	0	0	0	5	4			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr2:216990649G>T	ENST00000392133.3	+	9	1154	c.693G>T	c.(691-693)ctG>ctT	p.L231L	XRCC5_ENST00000392132.2_Silent_p.L231L			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	231					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)		GTGAGAGTCTGAGAAAACTGT	0.363								Non-homologous end-joining																													p.L231L													.	.			0			c.G693T												89	94	92					2																	216990649		2203	4300	6503	SO:0001819	synonymous_variant	7520	exon7			GAGTCTGAGAAAA	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.693G>T	2.37:g.216990649G>T			57	0	0		43	0.07	3	NM_021141	184	0	0	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Silent	SNP	ENST00000392133.3	37	CCDS2402.1																																																																																					0.363	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256675.3		NM_021141		T	216990649	G	T	216990649	2	4	67	1	0	0	0	0	0	0	0	1	17480	1277	45	3		3	XRCC5	2	216990649	Silent	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	46261802	216990649	26208724	7	4763											
LAMB2	3913	mdanderson.org	37	chr3	49161062	49161062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcctccccaatttcaCgcctgcaatgatggagaggg	9	8	12	12	1	1	2	1	1	0	1	2	3	2	2	4	3	1	1	4	3	2	1	rs141988617		TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr3:49161062C>T	ENST00000418109.1	-	26	3964	c.3800G>A	c.(3799-3801)cGt>cAt	p.R1267H	USP19_ENST00000434032.2_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1267H|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000398888.2_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1267	Domain II.				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)		CCCAATTTCACGCCTGCAATG	0.567																																					p.R1267H													.	.			0			c.G3800A							C	HIS/ARG	0,4406		0,0,2203	99	97	98		3800	1.3	1	3	dbSNP_134	98	2,8598	2.2+/-6.3	0,2,4298	no	missense	LAMB2	NM_002292.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1267/1799	49161062	2,13004	2203	4300	6503	SO:0001583	missense	3913	exon25			ATTTCACGCCTGC		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.3800G>A	3.37:g.49161062C>T	ENSP00000388325:p.Arg1267His		91	0	0		47	0.06	3	NM_002292	134	0	0	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	6.946	0.544301	0.13312	0.0	2.33E-4	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.35236	1.32;1.32	5.69	1.32	0.21799	.	0.746815	0.13265	N	0.400967	T	0.14527	0.0351	N	0.02011	-0.69	0.23483	N	0.997586	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	10	0.38643	T	0.18	.	10.0479	0.42197	0.0:0.5494:0.0:0.4506	.	1267	P55268	LAMB2_HUMAN	H	1267;1267;34	ENSP00000388325:R1267H;ENSP00000307156:R1267H	ENSP00000307156:R1267H	R	-	2	0	LAMB2	49136066	0.009000	0.17119	1.000000	0.80357	0.455000	0.32408	-0.844000	0.04345	0.328000	0.23435	0.561000	0.74099	CGT	0		0.567	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345939.1		NM_002292		T	49161062	C	T	49161062	3	4	67	1	0	0	0	0	1	0	0	0	8626	536	19	1	1628	1	LAMB2	3	49161062	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10		49161062	148861368	8	4764											
GSX2	170825	mdanderson.org	37	chr4	54966519	54966519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccctctcgacatgtcgcGctccttctatgtcgactcgc	5	11	7	18	5	2	0	0	0	2	0	7	2	3	0	3	0	0	1	3	0	1	2	rs377377329		TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr4:54966519G>T	ENST00000326902.2	+	1	322	c.8G>T	c.(7-9)cGc>cTc	p.R3L	GSX2_ENST00000503800.1_Missense_Mutation_p.R3L|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	3					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GACATGTCGCGCTCCTTCTAT	0.652																																					p.R3L													.	.			0			c.G8T							G	LEU/ARG	0,4406		0,0,2203	52	39	43		8	4.7	1	4		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	GSX2	NM_133267.2	102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	3/305	54966519	1,13005	2203	4300	6503	SO:0001583	missense	170825	exon1			TGTCGCGCTCCTT		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.8G>T	4.37:g.54966519G>T	ENSP00000319118:p.Arg3Leu		33	0	0		50	0.06	3	NM_133267	0		0		Missense_Mutation	SNP	ENST00000326902.2	37	CCDS3494.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068620	0.76301	0.0	1.16E-4	ENSG00000180613	ENST00000326902;ENST00000503800	T;T	0.78816	-1.21;-1.21	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.88537	0.6463	M	0.79926	2.475	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.90293	0.4324	10	0.87932	D	0	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	3	Q9BZM3	GSX2_HUMAN	L	3	ENSP00000319118:R3L;ENSP00000422213:R3L	ENSP00000319118:R3L	R	+	2	0	GSX2	54661276	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.113000	0.94321	2.436000	0.82500	0.491000	0.48974	CGC			0.652	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250595.1		NM_133267		T	54966519	G	T	54966519	3	4	67	1	0	0	0	0	1	0	0	0	6865	1087	38	1	10	1	GSX2	4	54966519	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		54966519	136187757	9	4765											
CASP3	836	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	185550512	185550512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagtagcgtcaaaggaaaAggactcaaattctgttgcca	17	8	9	7	1	3	0	2	0	1	0	3	2	3	2	1	2	2	2	1	2	7	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr4:185550512A>G	ENST00000308394.4	-	8	1010	c.748T>C	c.(748-750)Ttt>Ctt	p.F250L	CASP3_ENST00000523916.1_Missense_Mutation_p.F250L|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	250					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)	TCAAAGGAAAAGGACTCAAAT	0.398																																					p.F250L													.	CASP3	27		0			c.T748C												132	133	133					4																	185550512		2203	4300	6503	SO:0001583	missense	836	exon8			AGGAAAAGGACTC	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.748T>C	4.37:g.185550512A>G	ENSP00000311032:p.Phe250Leu		102	0	0		59	0.07	4	NM_004346	65	0	0	A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	A	7.658	0.684405	0.14907	.	.	ENSG00000164305	ENST00000308394;ENST00000523916	T;T	0.39406	1.08;1.08	5.69	5.69	0.88448	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.514908	0.23030	N	0.052757	T	0.40979	0.1139	M	0.64260	1.97	0.18873	N	0.999985	B	0.11235	0.004	B	0.15870	0.014	T	0.33727	-0.9857	10	0.11485	T	0.65	.	15.9626	0.79941	1.0:0.0:0.0:0.0	.	250	P42574	CASP3_HUMAN	L	250	ENSP00000311032:F250L;ENSP00000428929:F250L	ENSP00000311032:F250L	F	-	1	0	CASP3	185787506	0.011000	0.17503	0.825000	0.32803	0.676000	0.39594	2.087000	0.41653	2.165000	0.68154	0.528000	0.53228	TTT			0.398	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257885.2		NM_004346		G	185550512	A	G	185550512	3	3	67	1	0	0	0	0	1	0	0	0	2674	72	3	4	89	4	CASP3	4	185550512	Missense_Mutation	SNP	A	TCGA-2G-AALO-01A-12D-A42Y-10	130583993	185550512	5603764	10	4766											
PDGFRB	5159	mdanderson.org	37	chr5	149512314	149512314	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagagcgagctgctcaccGggtctccgacacgttgcgcg	6	6	16	13	6	2	1	1	0	1	1	3	4	2	1	2	2	4	3	2	2	0	1	rs142621427		TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr5:149512314G>T	ENST00000261799.4	-	7	1595	c.1126C>A	c.(1126-1128)Cgg>Agg	p.R376R		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	376	Ig-like C2-type 4.				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)	GCTGCTCACCGGGTCTCCGAC	0.602			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																p.R376R				Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	.	.			0			c.C1126A												29	28	28					5																	149512314		2203	4300	6503	SO:0001630	splice_region_variant	5159	exon7			CTCACCGGGTCTC	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.1127+1C>A	5.37:g.149512314G>T			56	0	0		48	0.06	3	NM_002609	71	0	0	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																					0.602	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252332.1		NM_002609	Silent	T	149512314	G	T	149512314	5	4	67	1	0	0	0	0	0	0	1	0	11679	1130	39	1	2262	1	PDGFRB	5	149512314	Splice_Site	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		149512314	31402946	11	4767											
HMMR	3161	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	162901165	162901165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaacaggaacgtgaaaagcTtcaacaaaaagaattacaaa	23	5	6	7	1	1	2	1	1	0	1	1	3	1	3	0	1	5	1	0	1	10	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr5:162901165T>C	ENST00000358715.3	+	10	1040	c.1004T>C	c.(1003-1005)cTt>cCt	p.L335P	HMMR_ENST00000393915.4_Missense_Mutation_p.L336P|HMMR_ENST00000353866.3_Missense_Mutation_p.L320P|HMMR_ENST00000432118.2_Missense_Mutation_p.L249P			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	335					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CGTGAAAAGCTTCAACAAAAA	0.318																																					p.L336P													.	.			0			c.T1007C												77	77	77					5																	162901165		2203	4299	6502	SO:0001583	missense	3161	exon10			AAAAGCTTCAACA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1004T>C	5.37:g.162901165T>C	ENSP00000351554:p.Leu335Pro		298	0	0		241	0.06	15	NM_001142556	10	0.2	2	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.797360	0.50208	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.32376	0.0827	M	0.72894	2.215	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	T	0.02208	-1.1195	10	0.72032	D	0.01	-7.1266	13.7757	0.63053	0.0:0.0:0.0:1.0	.	249;336;320;335	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	P	221;320;320;336;312;249;335	ENSP00000400527:L221P;ENSP00000185942:L320P;ENSP00000377492:L336P;ENSP00000402673:L249P;ENSP00000351554:L335P	ENSP00000185942:L320P	L	+	2	0	HMMR	162833743	0.483000	0.25956	0.497000	0.27552	0.374000	0.29953	4.610000	0.61155	2.326000	0.78906	0.533000	0.62120	CTT			0.318	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000252752.1		NM_012484		C	162901165	T	C	162901165	3	2	67	1	0	0	0	0	1	0	0	0	7257	1609	56	4	1045	4	HMMR	5	162901165	Missense_Mutation	SNP	T	TCGA-2G-AALO-01A-12D-A42Y-10	13388851	162901165	18014095	12	4768											
CUL9	23113	mdanderson.org	37	chr6	43182824	43182824	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctatccaggtgctggAggcctggcagaagggtccaa	8	8	13	12	0	0	1	0	0	0	1	4	2	4	2	5	5	1	2	5	5	3	1			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr6:43182824A>G	ENST00000252050.4	+	30	5780	c.5696A>G	c.(5695-5697)gAg>gGg	p.E1899G	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.E1871G|CUL9_ENST00000354495.3_Missense_Mutation_p.E1789G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1899					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						CAGGTGCTGGAGGCCTGGCAG	0.562																																					p.E1899G													.	.			0			c.A5696G												81	85	83					6																	43182824		2203	4300	6503	SO:0001583	missense	23113	exon30			TGCTGGAGGCCTG	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.5696A>G	6.37:g.43182824A>G	ENSP00000252050:p.Glu1899Gly		30	0	0		32	0.13	4	NM_015089	13	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609408	0.87258	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.76968	-1.05;-1.06;-0.96	5.33	5.33	0.75918	Cullin protein, neddylation domain (1);	0.385654	0.31041	N	0.008366	T	0.81997	0.4941	M	0.63843	1.955	0.48696	D	0.999695	D;D;D	0.67145	0.993;0.996;0.996	D;P;P	0.63033	0.91;0.874;0.874	D	0.84935	0.0862	10	0.87932	D	0	-24.9636	15.3157	0.74074	1.0:0.0:0.0:0.0	.	1789;1871;1899	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	G	1899;1789;1871	ENSP00000252050:E1899G;ENSP00000346490:E1789G;ENSP00000361730:E1871G	ENSP00000252050:E1899G	E	+	2	0	CUL9	43290802	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.398000	0.66308	2.017000	0.59298	0.533000	0.62120	GAG			0.562	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040582.2		NM_015089		G	43182824	A	G	43182824	3	3	67	1	0	0	0	0	1	0	0	0	4063	304	11	4	5810	4	CUL9	6	43182824	Missense_Mutation	SNP	A	TCGA-2G-AALO-01A-12D-A42Y-10		43182824	127932243	13	4769											
SP8	221833	broad.mit.edu;mdanderson.org	37	chr7	20824970	20824970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgccgccgccgcCgctgcccccggaaactccgg	3	2	12	24	8	0	0	0	0	0	0	1	1	1	1	10	2	2	1	10	2	1	0			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr7:20824970C>T	ENST00000361443.4	-	3	649	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	SP8_ENST00000418710.2_Missense_Mutation_p.G156S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	138					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ccgccgccgccgctgcccccg	0.761																																					p.G156S													.	SP8	43		0			c.G466A																																									SO:0001583	missense	221833	exon2			CGCCGCCGCTGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.412G>A	7.37:g.20824970C>T	ENSP00000354482:p.Gly138Ser		37	0	0		39	0.08	3	NM_182700	0		0	Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435495	0.12045	.	.	ENSG00000164651	ENST00000418710;ENST00000361443	D;D	0.81821	-1.54;-1.54	3.09	2.16	0.27623	.	0.366549	0.17990	U	0.155235	T	0.58308	0.2113	N	0.08118	0	0.31008	N	0.719562	D;D	0.55605	0.972;0.972	B;B	0.41860	0.368;0.368	T	0.60005	-0.7347	10	0.08837	T	0.75	.	10.7467	0.46185	0.1919:0.8081:0.0:0.0	.	138;138	Q7Z615;Q8IXZ3	.;SP8_HUMAN	S	156;138	ENSP00000408792:G156S;ENSP00000354482:G138S	ENSP00000354482:G138S	G	-	1	0	SP8	20791495	.	.	0.969000	0.41365	0.291000	0.27294	.	.	0.455000	0.26910	0.306000	0.20318	GGC			0.761	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000326904.2				T	20824970	C	T	20824970	3	4	67	1	0	0	0	0	1	0	0	0	14993	652	23	1	1064	1	SP8	7	20824970	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10		20824970	138313693	14	4770											
SP4	6671	broad.mit.edu;mdanderson.org	37	chr7	21468306	21468306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgttgcagatcagaagaagGaggaggaggaggaggcggca	13	5	19	4	1	1	3	1	0	0	3	1	8	1	8	0	7	1	3	0	7	2	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr7:21468306G>A	ENST00000222584.3	+	2	237	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	7	Poly-Glu.				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						TCAGAAGAAGGAGGAGGAGGA	0.512																																					p.E7K													SP4,colon,carcinoma,0,1	SP4	91	1	0			c.G19A												20	20	20					7																	21468306		2171	4251	6422	SO:0001583	missense	6671	exon2			AAGAAGGAGGAGG		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.19G>A	7.37:g.21468306G>A	ENSP00000222584:p.Glu7Lys		47	0	0		50	0.06	3	NM_003112	1	0	0	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318989	0.41096	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	T	0.09911	2.93	4.5	4.5	0.54988	.	0.061123	0.64402	N	0.000005	T	0.10937	0.0267	L	0.36672	1.1	0.44142	D	0.996934	P	0.34587	0.458	B	0.39152	0.292	T	0.20907	-1.0261	10	0.23891	T	0.37	.	12.5742	0.56355	0.0:0.0:1.0:0.0	.	7	Q02446	SP4_HUMAN	K	7	ENSP00000222584:E7K	ENSP00000222584:E7K	E	+	1	0	SP4	21434831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.555000	0.73928	2.345000	0.79718	0.563000	0.77884	GAG			0.512	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211617.2		NM_003112		A	21468306	G	A	21468306	3	1	67	1	0	0	0	0	1	0	0	0	14989	1175	41	3	25	3	SP4	7	21468306	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	643336	21468306	137670357	15	4771											
MTERF	7978	mdanderson.org	37	chr7	91503479	91503479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaccatctgtttattcAgatcaagactattggagaag	14	13	7	7	0	4	3	3	0	1	3	4	4	4	3	1	1	1	1	1	1	5	6			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr7:91503479A>G	ENST00000351870.3	-	3	722	c.629T>C	c.(628-630)cTg>cCg	p.L210P	MTERF_ENST00000419292.1_Missense_Mutation_p.L190P|MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Missense_Mutation_p.L190P	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		210					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTGTTTATTCAGATCAAGACT	0.393																																					p.L210P													.	.			0			c.T629C												57	58	58					7																	91503479		2203	4300	6503	SO:0001583	missense	7978	exon3			TTATTCAGATCAA																												ENST00000351870.3:c.629T>C	7.37:g.91503479A>G	ENSP00000248643:p.Leu210Pro		61	0	0		81	0.05	4	NM_006980	13	0	0	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.491674	0.64074	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.19532	2.16;2.14;2.16	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000010	T	0.43344	0.1243	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20874	-1.0262	10	0.34782	T	0.22	-4.7784	14.1498	0.65375	1.0:0.0:0.0:0.0	.	210	Q99551	MTERF_HUMAN	P	190;210;190	ENSP00000414116:L190P;ENSP00000248643:L210P;ENSP00000384986:L190P	ENSP00000248643:L210P	L	-	2	0	MTERF	91341415	1.000000	0.71417	0.968000	0.41197	0.739000	0.42172	6.250000	0.72435	2.139000	0.66308	0.477000	0.44152	CTG			0.393	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000342896.1				G	91503479	A	G	91503479	3	3	67	1	0	0	0	0	1	0	0	0	9934	188	7	4	574	4	MTERF	7	91503479	Missense_Mutation	SNP	A	TCGA-2G-AALO-01A-12D-A42Y-10	70035173	91503479	67635184	16	4772											
MUC17	140453	mdanderson.org	37	chr7	100685848	100685848	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagcaccctttcaacaccTtctgttgtcaccagcacacc	9	10	6	16	0	3	0	2	0	1	0	3	0	3	0	4	1	3	4	4	1	2	4			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr7:100685848T>A	ENST00000306151.4	+	3	11215	c.11151T>A	c.(11149-11151)ccT>ccA	p.P3717P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3717	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)					TTTCAACACCTTCTGTTGTCA	0.502																																					p.P3717P													MUC17,NS,carcinoma,+2,1	MUC17	2	1	0			c.T11151A												224	204	211					7																	100685848		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			AACACCTTCTGTT	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.11151T>A	7.37:g.100685848T>A			45	0	0		42	0.07	3	NM_001040105	133	0	0	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																					0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		A	100685848	T	A	100685848	2	1	67	1	0	0	0	0	0	0	0	1	9990	1596	56	5		5	MUC17	7	100685848	Silent	SNP	T	TCGA-2G-AALO-01A-12D-A42Y-10	9182369	100685848	58452815	17	4773											
HIPK2	28996	mdanderson.org	37	chr7	139257993	139257993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtggggaggtgggcagCggcagcggctgcagccagat	6	5	21	9	2	0	1	0	0	0	1	0	2	0	2	1	7	4	4	1	7	0	0			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr7:139257993C>T	ENST00000406875.3	-	15	3371	c.3277G>A	c.(3277-3279)Gct>Act	p.A1093T	HIPK2_ENST00000428878.2_Missense_Mutation_p.A1066T	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1093	Autoinhibitory domain (AID).|Poly-Ala.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|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)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGTGGGCAGCGGCAGCGGCT	0.711																																					p.A1093T													.	.			0			c.G3277A												27	39	35					7																	139257993		2076	4194	6270	SO:0001583	missense	28996	exon15			GGGCAGCGGCAGC	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3277G>A	7.37:g.139257993C>T	ENSP00000385571:p.Ala1093Thr		15	0	0		16	0.13	2	NM_022740	0		0	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37		.	.	.	.	.	.	.	.	.	.	C	10.56	1.384353	0.25031	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.53206	0.63;0.64	3.55	3.55	0.40652	.	.	.	.	.	T	0.34803	0.0910	.	.	.	0.43394	D	0.995516	B;B	0.18310	0.027;0.025	B;B	0.13407	0.004;0.009	T	0.12451	-1.0547	8	0.23302	T	0.38	.	13.6739	0.62443	0.0:1.0:0.0:0.0	.	1093;1066	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	T	1093;1066	ENSP00000385571:A1093T;ENSP00000413724:A1066T	ENSP00000385571:A1093T	A	-	1	0	HIPK2	138908533	0.999000	0.42202	0.778000	0.31720	0.771000	0.43674	4.166000	0.58203	1.707000	0.51288	0.591000	0.81541	GCT			0.711	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000349430.3		NM_022740		T	139257993	C	T	139257993	3	4	67	1	0	0	0	0	1	0	0	0	7132	768	27	1	323	1	HIPK2	7	139257993	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	38572145	139257993	19880670	18	4774											
XKR5	389610	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	6679483	6679483	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgagcaggttgaacaGcctccagtggcaggtgctgt	8	7	13	13	1	0	1	0	1	0	0	1	2	1	1	4	3	4	4	4	3	1	1			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr8:6679483G>T	ENST00000518724.1	-	0	865							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGGTTGAACAGCCTCCAGTGG	0.577																																					p.L239M													.	XKR5	20		0			c.C715A												37	42	40					8																	6679483		2075	4215	6290			389610	exon5			TGAACAGCCTCCA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679483G>T			59	0	0		60	0.08	5	NM_207411	0		0	Q5GH74	RNA	SNP	ENST00000518724.1	37																																																																																						0.577	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000331969.2		NM_207411		T	6679483	G	T	6679483	1	4	67	0	1	0	0	0	0	0	0	0	17458	962	34	2		2	XKR5	8	6679483	RNA	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		6679483	139684539	19	4775											
TNKS	8658	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	9623905	9623905	+	Frame_Shift_Del	DEL	A	A	-																															aggaacaggctgccctacacAcaaggacaggtcatgctata																										TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr8:9623905delA	ENST00000310430.6	+	25	3736	c.3710delA	c.(3709-3711)cacfs	p.H1237fs	TNKS_ENST00000518281.1_Frame_Shift_Del_p.H1000fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1237	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)		TGCCCTACACACAAGGACAGG	0.418																																					p.H1237fs													.	TNKS	198		0			c.3709delC												107	94	98					8																	9623905		2203	4300	6503	SO:0001589	frameshift_variant	8658	exon25			CTACACACAAGGA	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.3710delA	8.37:g.9623905delA	ENSP00000311579:p.His1237fs		101	0	0		73	0.16	12	NM_003747	5	0	0	O95272|Q4G0F2	Frame_Shift_Del	DEL	ENST00000310430.6	37	CCDS5974.1																																																																																					0.418	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206935.1		NM_003747		-	9623905	A	-	9623905	7	5	67	1	0	1	0	1	0	0	0	0	16342	159	6	0	3808	0	TNKS	8	9623905	Frame_Shift_Del	DEL	A	TCGA-2G-AALO-01A-12D-A42Y-10	2944422	9623905	136740117	20	4776											
KIAA0146	23514	ucsc.edu	37	chr8	48508458	48508458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttgccaaagaagattcaGaaaaaacttgtgaagtgtac	16	11	9	5	0	1	4	1	1	0	3	1	4	1	4	1	0	3	2	1	0	7	5			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr8:48508458G>A	ENST00000297423.4	+	9	1567	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	SPIDR_ENST00000518074.1_Missense_Mutation_p.E335K|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.E325K	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	395	Necessary for interaction with RAD51.				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)											AGAAGATTCAGAAAAAACTTG	0.383																																					p.E395K													.	KIAA0146	64		0			c.G1183A												99	92	94					8																	48508458		1822	4087	5909	SO:0001583	missense	0	exon9			GATTCAGAAAAAA	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.1183G>A	8.37:g.48508458G>A	ENSP00000297423:p.Glu395Lys		108	0.0092592593	1		147	0.01	1	NM_001080394	38	0.26	10	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	G	1.602	-0.526182	0.04141	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000524006	.	.	.	5.3	-1.8	0.07907	.	1.562700	0.03548	N	0.225029	T	0.24005	0.0581	N	0.11106	0.095	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.15925	-1.0420	9	0.27082	T	0.32	.	7.942	0.29963	0.4484:0.112:0.4396:0.0	.	335;325;395;395	B4E0Y6;B4DFV2;B4DEV5;Q14159	.;.;.;K0146_HUMAN	K	395;335;325;84	.	ENSP00000297423:E395K	E	+	1	0	KIAA0146	48671011	1.000000	0.71417	0.001000	0.08648	0.121000	0.20230	1.537000	0.36083	-0.575000	0.05982	-0.797000	0.03246	GAA			0.383	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000377611.1		NM_001080394		A	48508458	G	A	48508458	3	1	67	1	0	0	0	0	1	0	0	0	8172	943	33	3	1217	3	KIAA0146	8	48508458	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	38884553	48508458	97855564	21	4777											
MCM10	55388	mdanderson.org	37	chr10	13239659	13239659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattaagggcaaaaggccagGttcttacaaaaacaaaccca	19	6	7	9	0	1	0	0	0	1	0	1	0	1	0	2	3	3	2	2	3	8	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr10:13239659G>T	ENST00000484800.2	+	15	2117	c.2014G>T	c.(2014-2016)Gtt>Ttt	p.V672F	MCM10_ENST00000378694.1_Missense_Mutation_p.V671F|MCM10_ENST00000378714.3_Missense_Mutation_p.V671F			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	672					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						AAAAGGCCAGGTTCTTACAAA	0.408																																					p.V672F													.	.			0			c.G2014T												91	85	87					10																	13239659		2203	4300	6503	SO:0001583	missense	55388	exon15			GGCCAGGTTCTTA	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.2014G>T	10.37:g.13239659G>T	ENSP00000418268:p.Val672Phe		79	0	0		44	0.07	3	NM_182751	4	0	0	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157614	0.38119	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.15372	2.44;2.44;2.43	5.23	1.55	0.23275	Replication factor Mcm10 (1);	0.329739	0.36374	N	0.002633	T	0.10809	0.0264	L	0.34521	1.04	0.22629	N	0.998913	P;B;B	0.39480	0.675;0.173;0.208	B;B;B	0.33846	0.153;0.107;0.171	T	0.15464	-1.0436	10	0.51188	T	0.08	-7.5206	9.0428	0.36327	0.7625:0.0:0.2375:0.0	.	671;671;672	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	F	671;672;672;671	ENSP00000367986:V671F;ENSP00000418268:V672F;ENSP00000367966:V671F	ENSP00000354945:V672F	V	+	1	0	MCM10	13279665	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	1.473000	0.35387	0.398000	0.25338	-0.238000	0.12139	GTT			0.408	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000356853.1		NM_182751		T	13239659	G	T	13239659	3	4	67	1	0	0	0	0	1	0	0	0	9401	1261	44	3	2068	3	MCM10	10	13239659	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		13239659	122295088	22	4778											
DNAJC1	64215	mdanderson.org	37	chr10	22207710	22207710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaggtacattttacctGgatgaggtgaggtaatgctt	13	12	12	4	0	0	3	0	2	0	1	0	4	0	4	1	4	3	3	1	4	5	5			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr10:22207710G>T	ENST00000376980.3	-	6	1017	c.727C>A	c.(727-729)Cag>Aag	p.Q243K		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	243					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)				CATTTTACCTGGATGAGGTGA	0.373																																					p.Q243K													.	.			0			c.C727A												91	78	82					10																	22207710		2203	4300	6503	SO:0001583	missense	64215	exon6			TTACCTGGATGAG	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.727C>A	10.37:g.22207710G>T	ENSP00000366179:p.Gln243Lys		54	0	0		46	0.07	3	NM_022365	16	0	0	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670877	0.67814	.	.	ENSG00000136770	ENST00000376980	T	0.62639	0.01	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.61964	-0.6954	10	0.14252	T	0.57	-8.351	20.0856	0.97800	0.0:0.0:1.0:0.0	.	243	Q96KC8	DNJC1_HUMAN	K	243	ENSP00000366179:Q243K	ENSP00000366179:Q243K	Q	-	1	0	DNAJC1	22247716	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.811000	0.91954	2.734000	0.93682	0.655000	0.94253	CAG			0.373	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047149.1		NM_022365		T	22207710	G	T	22207710	3	4	67	1	0	0	0	0	1	0	0	0	4633	1357	47	3	965	3	DNAJC1	10	22207710	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	8968051	22207710	113327037	23	4779											
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaatttaatcgtggaCgaggactaaatgtgggtgcc	13	10	13	5	2	0	2	0	1	0	1	1	5	0	4	1	3	1	0	1	3	5	3	rs76607193	byFrequency	TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					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)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																					p.R347X													CSGALNACT2,trunk,malignant_melanoma,0,1	CSGALNACT2	0	1	1	Substitution - Nonsense(1)	skin(1)	c.C1039T												191	181	184					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454	exon5			CGTGGACGAGGAC	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.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*		89	0	0		82	0.05	4	NM_018590	10	0	0	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA	0.003		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047693.1		NM_018590		T	43659372	C	T	43659372	4	4	67	1	0	0	0	0	0	1	0	0	3941	528	19	1	1053	1	CSGALNACT2	10	43659372	Nonsense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	21451662	43659372	91875375	24	4780											
SLIT1	6585	mdanderson.org	37	chr10	98807466	98807466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagttctgccgtggactgggGgatgcgctcagggatcttgg	5	10	17	9	2	3	0	1	0	2	0	3	3	3	3	1	5	2	2	1	5	0	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr10:98807466G>T	ENST00000266058.4	-	16	1860	c.1615C>A	c.(1615-1617)Ccc>Acc	p.P539T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.P539T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	539	LRRNT 3.				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)		GTGGACTGGGGGATGCGCTCA	0.627																																					p.P539T													.	.			0			c.C1615A												80	83	82					10																	98807466		2203	4300	6503	SO:0001583	missense	6585	exon16			ACTGGGGGATGCG	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.1615C>A	10.37:g.98807466G>T	ENSP00000266058:p.Pro539Thr		43	0	0		27	0.11	3	NM_003061	0		0	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904730	0.52333	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;D	0.99376	-5.79;-5.79;-5.79	4.54	3.63	0.41609	Leucine-rich repeat-containing N-terminal (2);	0.108090	0.64402	D	0.000004	D	0.99489	0.9818	M	0.94101	3.495	0.80722	D	1	D;P	0.69078	0.997;0.935	D;P	0.76071	0.987;0.471	D	0.98485	1.0607	10	0.87932	D	0	.	12.7028	0.57043	0.0798:0.0:0.9202:0.0	.	549;539	E7EWQ8;O75093	.;SLIT1_HUMAN	T	539;549;539;532	ENSP00000266058:P539T;ENSP00000360109:P539T;ENSP00000315005:P532T	ENSP00000266058:P539T	P	-	1	0	SLIT1	98797456	1.000000	0.71417	0.973000	0.42090	0.236000	0.25371	8.996000	0.93539	1.269000	0.44280	0.563000	0.77884	CCC			0.627	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049636.1		NM_003061		T	98807466	G	T	98807466	3	4	67	1	0	0	0	0	1	0	0	0	14762	1232	43	3	3077	3	SLIT1	10	98807466	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	55148094	98807466	36727281	25	4781											
FBXL15	79176	mdanderson.org	37	chr10	104181702	104181702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggagtgtggcgttgggCggctgcgggcaactgagtcg	4	8	20	9	5	0	1	0	1	0	0	1	2	0	2	0	5	3	3	0	5	1	1			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr10:104181702C>T	ENST00000224862.3	+	3	1682	c.366C>T	c.(364-366)ggC>ggT	p.G122G	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_5'Flank|FBXL15_ENST00000369956.2_Silent_p.G118G|PSD_ENST00000020673.5_5'Flank|CUEDC2_ENST00000465409.1_5'Flank	NM_024326.3	NP_077302.3	Q9H469	FXL15_HUMAN	F-box and leucine-rich repeat protein 15	122	Interaction with SMURF1.				bone mineralization (GO:0030282)|dorsal/ventral pattern formation (GO:0009953)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of BMP signaling pathway (GO:0030513)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)				kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		TGGCGTTGGGCGGCTGCGGGC	0.711																																					p.G122G													.	.			0			c.C366T												11	13	13					10																	104181702		2155	4210	6365	SO:0001819	synonymous_variant	79176	exon3			GTTGGGCGGCTGC	BC036120	CCDS31273.1	10q24.32	2011-06-09	2004-06-15	2004-06-16	ENSG00000107872	ENSG00000107872		"F-boxes / Leucine-rich repeats"	28155	protein-coding gene	gene with protein product		610287	"F-box only protein 37"	FBXO37			Standard	NM_024326		Approved	MGC11279, Fbl15	uc001kvk.2	Q9H469	OTTHUMG00000018957	ENST00000224862.3:c.366C>T	10.37:g.104181702C>T			18	0	0		10	0.2	2	NM_024326	44	0	0	A1L4J8|B1AKX8|B1AKX9|B1AKY0|B1AKY1|C9JWA4|Q0D2Q3|Q49AL7|Q5JWA5	Silent	SNP	ENST00000224862.3	37	CCDS31273.1																																																																																					0.711	FBXL15-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				XM_370575		T	104181702	C	T	104181702	2	4	67	1	0	0	0	0	0	0	0	1	5724	755	27	1		1	FBXL15	10	104181702	Silent	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	5374236	104181702	31353045	26	4782											
OBFC1	79991	mdanderson.org	37	chr10	105659887	105659887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctgactcggatcgtGtccccgatctctatctttgt	4	15	8	14	3	3	1	0	1	3	0	7	3	4	2	3	1	1	0	3	1	1	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr10:105659887G>T	ENST00000224950.3	-	5	557	c.390C>A	c.(388-390)gaC>gaA	p.D130E	OBFC1_ENST00000369764.1_Missense_Mutation_p.D130E|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	130					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CTCGGATCGTGTCCCCGATCT	0.463																																					p.D130E													.	.			0			c.C390A												268	207	227					10																	105659887		2203	4300	6503	SO:0001583	missense	79991	exon5			GATCGTGTCCCCG	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.390C>A	10.37:g.105659887G>T	ENSP00000224950:p.Asp130Glu		70	0	0		46	0.07	3	NM_024928	41	0	0	D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695464	0.30052	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.28454	1.61;1.61	5.95	1.53	0.23141	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.042775	0.85682	D	0.000000	T	0.45034	0.1322	M	0.67953	2.075	0.38960	D	0.958522	D	0.71674	0.998	D	0.70227	0.968	T	0.35919	-0.9769	10	0.42905	T	0.14	-26.1717	6.3142	0.21180	0.4708:0.0:0.5292:0.0	.	130	Q9H668	STN1_HUMAN	E	130	ENSP00000224950:D130E;ENSP00000358779:D130E	ENSP00000224950:D130E	D	-	3	2	OBFC1	105649877	0.319000	0.24607	0.425000	0.26659	0.009000	0.06853	0.539000	0.23175	0.410000	0.25675	-0.150000	0.13652	GAC			0.463	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050174.1		NM_024928		T	105659887	G	T	105659887	3	4	67	1	0	0	0	0	1	0	0	0	10824	1368	48	3	740	3	OBFC1	10	105659887	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	1478185	105659887	29874860	27	4783											
PGA3	643834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	60971070	60971070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgggtctggtggcaCtctctgagtgcatcatgtac	5	13	13	10	0	3	1	1	1	2	0	4	1	3	1	0	3	4	5	0	3	1	1			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr11:60971070C>A	ENST00000325558.6	+	1	219	c.34C>A	c.(34-36)Ctc>Atc	p.L12I		NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	12					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						TCTGGTGGCACTCTCTGAGTG	0.577																																					p.L12I													.	.			0			c.C34A												185	144	158					11																	60971070		2193	4294	6487	SO:0001583	missense	643834	exon1			GTGGCACTCTCTG	AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.34C>A	11.37:g.60971070C>A	ENSP00000322192:p.Leu12Ile		239	0.0041841004	1		184	0.46	85	NM_001079807	0		0	A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	ENST00000325558.6	37	CCDS31574.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129721	0.37630	.	.	ENSG00000229859	ENST00000325558;ENST00000439843	T	0.60424	0.19	3.49	2.47	0.30058	.	.	.	.	.	T	0.54240	0.1846	L	0.61387	1.9	0.80722	D	1	B;B	0.32245	0.361;0.343	B;B	0.34931	0.134;0.192	T	0.60727	-0.7206	9	0.48119	T	0.1	.	11.599	0.50990	0.1783:0.8217:0.0:0.0	.	12;12	E7EUP8;F8WAB4	.;.	I	12	ENSP00000322192:L12I	ENSP00000322192:L12I	L	+	1	0	PGA3	60727646	0.853000	0.29707	0.744000	0.31058	0.023000	0.10783	1.382000	0.34374	1.989000	0.58080	0.552000	0.68991	CTC			0.577	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397955.2		NM_001079807		A	60971070	C	A	60971070	3	1	67	1	0	0	0	0	1	0	0	0	11788	565	20	3	36	3	PGA3	11	60971070	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10		60971070	74035446	28	4784											
LRRC32	2615	broad.mit.edu;mdanderson.org	37	chr11	76370933	76370933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgagtggattcccctgCaggtagaggcgccggaggct	7	7	16	11	2	0	2	0	1	0	1	1	4	1	4	3	5	2	4	3	5	1	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr11:76370933C>T	ENST00000407242.2	-	3	1946	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L	LRRC32_ENST00000260061.5_Silent_p.L568L|LRRC32_ENST00000404995.1_Silent_p.L568L|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	568					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						GATTCCCCTGCAGGTAGAGGC	0.662																																					p.L568L													.	LRRC32	74		0			c.G1704A												26	28	27					11																	76370933		2199	4292	6491	SO:0001819	synonymous_variant	2615	exon3			CCCCTGCAGGTAG	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.1704G>A	11.37:g.76370933C>T			35	0	0		25	0.12	3	NM_005512	34	0.09	3	Q86V06	Silent	SNP	ENST00000407242.2	37	CCDS8245.1																																																																																					0.662	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257926.2		NM_005512		T	76370933	C	T	76370933	2	4	67	1	0	0	0	0	0	0	0	1	9003	697	25	2		2	LRRC32	11	76370933	Silent	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	15399863	76370933	58635583	29	4785											
GRIA4	2893	broad.mit.edu	37	chr11	105769101	105769101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaatcaaactaatggatcGctggaagaaactagatcaga	17	8	10	6	1	2	3	2	0	0	3	3	5	2	5	0	3	2	2	0	3	6	3	rs375247322		TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr11:105769101G>T	ENST00000530497.1	+	6	833	c.833G>T	c.(832-834)cGc>cTc	p.R278L	GRIA4_ENST00000428631.2_Missense_Mutation_p.R278L|GRIA4_ENST00000282499.5_Missense_Mutation_p.R278L|GRIA4_ENST00000393125.2_Missense_Mutation_p.R278L|GRIA4_ENST00000525187.1_Missense_Mutation_p.R278L|GRIA4_ENST00000393127.2_Missense_Mutation_p.R278L			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	278					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)		CTAATGGATCGCTGGAAGAAA	0.353																																					p.R278L													.	GRIA4	380		0			c.G833T												60	61	61					11																	105769101		2202	4299	6501	SO:0001583	missense	0	exon7			TGGATCGCTGGAA	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.833G>T	11.37:g.105769101G>T	ENSP00000435775:p.Arg278Leu		137	0	0		120	0.03	4	NM_001077244	0		0	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	33	5.235973	0.95240	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.87297	0.6142	L	0.60455	1.87	0.80722	D	1	B;P;P	0.49358	0.434;0.923;0.683	B;P;B	0.52159	0.245;0.691;0.36	D	0.88004	0.2758	10	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	278;278;278	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	L	278	ENSP00000376833:R278L;ENSP00000282499:R278L;ENSP00000376835:R278L;ENSP00000415551:R278L;ENSP00000435775:R278L;ENSP00000432180:R278L	ENSP00000282499:R278L	R	+	2	0	GRIA4	105274311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.437000	0.97535	2.704000	0.92352	0.655000	0.94253	CGC			0.353	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000388593.1				T	105769101	G	T	105769101	3	4	67	1	0	0	0	0	1	0	0	0	6785	1087	38	1	855	1	GRIA4	11	105769101	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	29398168	105769101	29237415	30	4786											
B3GAT1	27087	bcgsc.ca	37	chr11	134253610	134253610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtaggtgttgtcgtcGtcggcgaagtagaccacgcc	7	9	15	10	5	0	1	0	0	0	1	3	2	0	1	2	3	0	4	2	3	3	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr11:134253610G>T	ENST00000524765.1	-	3	5129	c.585C>A	c.(583-585)gaC>gaA	p.D195E	B3GAT1_ENST00000392580.1_Missense_Mutation_p.D195E|B3GAT1_ENST00000312527.4_Missense_Mutation_p.D195E|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Missense_Mutation_p.D208E			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	195					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)		TGTTGTCGTCGTCGGCGAAGT	0.692																																					p.D195E													.	B3GAT1	49		0			c.C585A												31	25	27					11																	134253610		2200	4296	6496	SO:0001583	missense	27087	exon3			GTCGTCGTCGGCG	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.585C>A	11.37:g.134253610G>T	ENSP00000433847:p.Asp195Glu		57	0	0		46	0.09	4	NM_054025	0		0	Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874255	0.91664	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.7	-0.504	0.11997	.	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	M	0.91717	3.235	0.80722	D	1	D;D	0.62365	0.991;0.982	D;D	0.65773	0.937;0.938	D	0.85923	0.1447	10	0.87932	D	0	-35.4349	12.0213	0.53344	0.7179:0.0:0.2821:0.0	.	208;195	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	E	195;195;195;208	ENSP00000376359:D195E;ENSP00000307875:D195E;ENSP00000433847:D195E;ENSP00000445983:D208E	ENSP00000307875:D195E	D	-	3	2	B3GAT1	133758820	0.800000	0.28916	0.887000	0.34795	0.991000	0.79684	0.037000	0.13840	-0.417000	0.07461	0.561000	0.74099	GAC			0.692	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393639.1		NM_018644		T	134253610	G	T	134253610	3	4	67	1	0	0	0	0	1	0	0	0	1253	1136	40	1	431	1	B3GAT1	11	134253610	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	28484509	134253610	752906	31	4787											
GRIN2B	2904	broad.mit.edu	37	chr12	13761690	13761690	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctttgggttctgcacAggtacggagttgttaaacac	8	12	11	10	1	1	0	0	0	1	0	2	1	2	1	2	3	3	5	2	3	3	5			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr12:13761690A>G	ENST00000609686.1	-	9	2066	c.1857T>C	c.(1855-1857)ccT>ccC	p.P619P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	619					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)	GGTTCTGCACAGGTACGGAGT	0.527																																					p.P619P													.	GRIN2B	303		0			c.T1857C												130	115	120					12																	13761690		2203	4300	6503	SO:0001819	synonymous_variant	2904	exon9			CTGCACAGGTACG		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.1857T>C	12.37:g.13761690A>G			108	0	0		265	0.03	9	NM_000834	0		0	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																					0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268014.2				G	13761690	A	G	13761690	2	3	67	1	0	0	0	0	0	0	0	1	6795	175	7	4		4	GRIN2B	12	13761690	Silent	SNP	A	TCGA-2G-AALO-01A-12D-A42Y-10		13761690	120090205	32	4788											
C12orf35	55196	broad.mit.edu	37	chr12	32135279	32135279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactccagtaatgccagagAatgcagagagacaaacacca	18	5	8	10	0	0	3	0	0	0	3	1	5	1	3	3	0	4	2	3	0	4	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr12:32135279A>G	ENST00000312561.4	+	4	1804	c.1390A>G	c.(1390-1392)Aat>Gat	p.N464D	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	464																	AATGCCAGAGAATGCAGAGAG	0.383																																					p.N464D													.	.			0			c.A1390G												96	102	100					12																	32135279		2203	4300	6503	SO:0001583	missense	55196	exon4			CCAGAGAATGCAG	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1390A>G	12.37:g.32135279A>G	ENSP00000310338:p.Asn464Asp		75	0	0		213	0.02	4	NM_018169	41	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	5.017	0.188775	0.09547	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05925	4.0;3.37	4.82	-2.62	0.06152	.	3.598240	0.00966	N	0.003176	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.19391	0.025	T	0.34204	-0.9838	9	.	.	.	.	1.396	0.02261	0.5008:0.1363:0.2315:0.1314	.	464	Q9HCM1	CL035_HUMAN	D	464	ENSP00000310338:N464D;ENSP00000370442:N464D	.	N	+	1	0	C12orf35	32026546	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.170000	0.09897	-0.840000	0.04206	0.482000	0.46254	AAT			0.383	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250307.2		NM_018169		G	32135279	A	G	32135279	3	3	67	1	0	0	0	0	1	0	0	0	1684	246	9	4	1392	4	C12orf35	12	32135279	Missense_Mutation	SNP	A	TCGA-2G-AALO-01A-12D-A42Y-10	18373589	32135279	101716616	33	4789											
GJA3	2700	mdanderson.org	37	chr13	20717246	20717246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtagcagacgttctcgCagcccggctgctgggtgttg	4	11	15	11	4	1	1	0	0	1	1	3	1	1	1	1	2	3	7	1	2	1	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr13:20717246C>A	ENST00000241125.3	-	2	358	c.182G>T	c.(181-183)tGc>tTc	p.C61F		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	61					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)		GACGTTCTCGCAGCCCGGCTG	0.637																																					p.C61F													.	.			0			c.G182T												91	76	81					13																	20717246		2203	4300	6503	SO:0001583	missense	2700	exon2			TTCTCGCAGCCCG	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.182G>T	13.37:g.20717246C>A	ENSP00000241125:p.Cys61Phe		68	0	0		38	0.08	3	NM_021954	0		0	Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599670	0.87055	.	.	ENSG00000121743	ENST00000241125	D	0.99741	-6.6	5.36	5.36	0.76844	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96607	0.9449	10	0.87932	D	0	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	61	Q9Y6H8	CXA3_HUMAN	F	61	ENSP00000241125:C61F	ENSP00000241125:C61F	C	-	2	0	GJA3	19615246	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.716000	0.84723	2.517000	0.84864	0.561000	0.74099	TGC			0.637	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044059.3		NM_021954		A	20717246	C	A	20717246	3	1	67	1	0	0	0	0	1	0	0	0	6416	710	25	2	1129	2	GJA3	13	20717246	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10		20717246	94452632	34	4790											
CAPN3	825	mdanderson.org	37	chr15	42702861	42702861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgaaatgcagtcaacgacGcaggtgctgagaaggaaggg	13	5	16	7	3	1	1	1	1	0	1	1	5	1	2	0	3	4	3	0	3	4	0	rs137927542		TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr15:42702861G>T	ENST00000397163.3	+	21	2479	c.2260G>T	c.(2260-2262)Gca>Tca	p.A754S	CAPN3_ENST00000318023.7_Missense_Mutation_p.A748S|CAPN3_ENST00000357568.3_Missense_Mutation_p.A748S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Missense_Mutation_p.A89S|CAPN3_ENST00000356316.3_Missense_Mutation_p.A661S|CAPN3_ENST00000397200.4_Missense_Mutation_p.A242S|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000561817.1_Missense_Mutation_p.A89S|CAPN3_ENST00000397204.4_Missense_Mutation_p.A89S|CAPN3_ENST00000349748.3_Missense_Mutation_p.A662S|CAPN3_ENST00000569136.1_Missense_Mutation_p.A89S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	754	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGTCAACGACGCAGGTGCTGA	0.532																																					p.A754S													.	.			0			c.G2260T												50	42	44					15																	42702861		2203	4299	6502	SO:0001583	missense	825	exon21			AACGACGCAGGTG	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2260G>T	15.37:g.42702861G>T	ENSP00000380349:p.Ala754Ser		34	0	0		39	0.08	3	NM_000070	17	0	0	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176901	0.94846	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52	4.54	4.54	0.55810	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	D	0.96602	0.8891	M	0.64260	1.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;0.995	D	0.97096	0.9794	10	0.66056	D	0.02	.	17.5035	0.87738	0.0:0.0:1.0:0.0	.	619;667;89;662;748;754;661	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	S	661;242;754;748;662;748;242;89;89	ENSP00000348667:A661S;ENSP00000380349:A754S;ENSP00000350181:A748S;ENSP00000183936:A662S;ENSP00000326281:A748S;ENSP00000380384:A242S;ENSP00000336840:A89S;ENSP00000380387:A89S	ENSP00000326281:A748S	A	+	1	0	CAPN3	40490153	1.000000	0.71417	0.955000	0.39395	0.818000	0.46254	9.612000	0.98347	2.356000	0.79943	0.563000	0.77884	GCA			0.532	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421075.1				T	42702861	G	T	42702861	3	4	67	1	0	0	0	0	1	0	0	0	2630	1087	38	1	2394	1	CAPN3	15	42702861	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		42702861	59828531	35	4791											
ALPK3	57538	mdanderson.org	37	chr15	85400648	85400648	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgacttctcagcacgggagCacagccaccttcctgccctc	7	7	8	19	2	1	0	1	0	1	0	4	2	2	1	5	1	4	2	5	1	0	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr15:85400648C>T	ENST00000258888.5	+	6	3452	c.3285C>T	c.(3283-3285)agC>agT	p.S1095S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1095					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)			AGCACGGGAGCACAGCCACCT	0.622																																					p.S1095S													.	.			0			c.C3285T												55	45	48					15																	85400648		2203	4299	6502	SO:0001819	synonymous_variant	57538	exon6			CGGGAGCACAGCC	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.3285C>T	15.37:g.85400648C>T			54	0	0		33	0.09	3	NM_020778	4	0	0	Q9P2L6	Silent	SNP	ENST00000258888.5	37	CCDS10333.1																																																																																					0.622	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000308997.1		NM_020778		T	85400648	C	T	85400648	2	4	67	1	0	0	0	0	0	0	0	1	546	709	25	2		2	ALPK3	15	85400648	Silent	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	42697787	85400648	17130744	36	4792											
CHD2	1106	mdanderson.org	37	chr15	93540280	93540280	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatgaagaggagtttgAgatgctgcataaatctatcc	14	10	9	8	0	1	3	0	2	1	2	2	5	2	4	2	1	3	3	2	1	5	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr15:93540280A>G	ENST00000394196.4	+	29	4757	c.3689A>G	c.(3688-3690)gAg>gGg	p.E1230G	CHD2_ENST00000557381.1_Missense_Mutation_p.E1230G	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1230					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)			GAGGAGTTTGAGATGCTGCAT	0.383																																					p.E1230G													.	.			0			c.A3689G												106	101	102					15																	93540280		2197	4298	6495	SO:0001583	missense	1106	exon29			AGTTTGAGATGCT	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.3689A>G	15.37:g.93540280A>G	ENSP00000377747:p.Glu1230Gly		66	0	0		35	0.09	3	NM_001271	14	0	0	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380718	0.42207	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.77489	-1.1;-1.1	5.44	4.28	0.50868	.	0.000000	0.34484	U	0.003936	T	0.72382	0.3453	M	0.66939	2.045	0.80722	D	1	B;P	0.36048	0.295;0.534	B;B	0.35550	0.081;0.205	T	0.68265	-0.5454	10	0.34782	T	0.22	-32.3791	8.3989	0.32574	0.7324:0.1368:0.0:0.1308	.	1230;1230	O14647;O14647-2	CHD2_HUMAN;.	G	1230	ENSP00000377747:E1230G;ENSP00000451366:E1230G	ENSP00000377747:E1230G	E	+	2	0	CHD2	91341284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.796000	0.62496	0.953000	0.37825	0.528000	0.53228	GAG			0.383	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000313528.3		NM_001271		G	93540280	A	G	93540280	3	3	67	1	0	0	0	0	1	0	0	0	3327	304	11	4	3803	4	CHD2	15	93540280	Missense_Mutation	SNP	A	TCGA-2G-AALO-01A-12D-A42Y-10	8139632	93540280	8991112	37	4793											
DCI	1632	mdanderson.org	37	chr16	2293048	2293048	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgccccgtgcctcaccTggaatggccatccactgggc	6	7	11	17	1	1	0	1	0	0	0	2	1	2	1	7	3	2	0	7	3	1	0			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr16:2293048T>C	ENST00000301729.4	-	6	788	c.741A>G	c.(739-741)ccA>ccG	p.P247P	RP11-304L19.11_ENST00000565709.1_RNA|ECI1_ENST00000562238.1_Splice_Site_p.P230P|ECI1_ENST00000570258.1_Splice_Site_p.P188P	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	247					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						GTGCCTCACCTGGAATGGCCA	0.637																																					p.P247P													.	.			0			c.A741G												22	22	22					16																	2293048		2192	4293	6485	SO:0001630	splice_region_variant	1632	exon6			CTCACCTGGAATG		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"3,2 trans-enoyl-CoA isomerase"	600305	"dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)", "dodecenoyl-CoA isomerase"	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.742+1A>G	16.37:g.2293048T>C			16	0	0		25	0.12	3	NM_001919	235	0	0	A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Silent	SNP	ENST00000301729.4	37	CCDS10464.1																																																																																					0.637	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250768.1			Silent	C	2293048	T	C	2293048	5	2	67	1	0	0	0	0	0	0	1	0	4291	1594	55	4	175	4	DCI	16	2293048	Splice_Site	SNP	T	TCGA-2G-AALO-01A-12D-A42Y-10		2293048	88061705	38	4794											
PHKB	5257	broad.mit.edu	37	chr16	47694447	47694447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagctgtggtagaacaaCttgatttcctacgaatcagt	11	12	10	8	1	1	2	1	1	0	1	2	4	2	3	1	2	4	2	1	2	5	4	rs376951504		TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr16:47694447C>T	ENST00000323584.5	+	21	2026	c.2002C>T	c.(2002-2004)Ctt>Ttt	p.L668F	PHKB_ENST00000455779.1_Missense_Mutation_p.L661F|PHKB_ENST00000299167.8_Missense_Mutation_p.L668F|PHKB_ENST00000566044.1_Missense_Mutation_p.L661F	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	668					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)|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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGTAGAACAACTTGATTTCCT	0.353																																					p.L668F													.	PHKB	298		0			c.C2002T							C	PHE/LEU,PHE/LEU	1,4401	2.1+/-5.4	0,1,2200	147	152	150		2002,1981	5.5	1	16		150	0,8600		0,0,4300	no	missense,missense	PHKB	NM_000293.2,NM_001031835.2	22,22	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	668/1094,661/1087	47694447	1,13001	2201	4300	6501	SO:0001583	missense	5257	exon21			GAACAACTTGATT		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2002C>T	16.37:g.47694447C>T	ENSP00000313504:p.Leu668Phe		127	0	0		95	0.04	4	NM_000293	33	0.03	1	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993298	0.54041	2.27E-4	0.0	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.93763	-3.28;-3.28	5.53	5.53	0.82687	Glycoside hydrolase 15-related (1);	0.068106	0.56097	D	0.000027	D	0.95984	0.8692	M	0.91140	3.18	0.80722	D	1	B;B	0.31054	0.306;0.178	B;B	0.39771	0.309;0.122	D	0.95671	0.8723	10	0.87932	D	0	-20.2577	19.4337	0.94781	0.0:1.0:0.0:0.0	.	668;661	Q93100;Q93100-4	KPBB_HUMAN;.	F	661;661;668	ENSP00000414345:L661F;ENSP00000313504:L668F	ENSP00000299167:L661F	L	+	1	0	PHKB	46251948	1.000000	0.71417	0.999000	0.59377	0.494000	0.33585	4.156000	0.58138	2.607000	0.88179	0.585000	0.79938	CTT			0.353	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000430413.1				T	47694447	C	T	47694447	3	4	67	1	0	0	0	0	1	0	0	0	11862	565	20	3	2143	3	PHKB	16	47694447	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	45401399	47694447	42660306	39	4795											
SNX20	124460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	50707856	50707856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcctgggaaactccaCgtcttcgatctcctccctga	6	12	8	15	2	2	1	0	1	2	0	7	3	5	2	4	1	2	1	4	1	1	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr16:50707856C>A	ENST00000330943.4	-	4	583	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	138	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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						GGAAACTCCACGTCTTCGATC	0.587																																					p.V138L													SNX20,NS,carcinoma,+1,1	SNX20	1	1	0			c.G412T												80	73	75					16																	50707856		2198	4300	6498	SO:0001583	missense	124460	exon4			ACTCCACGTCTTC	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.412G>T	16.37:g.50707856C>A	ENSP00000332062:p.Val138Leu		30	0	0		40	0.2	8	NM_182854	3	0	0	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563365	0.27915	.	.	ENSG00000167208	ENST00000330943	T	0.38560	1.13	5.53	2.17	0.27698	Phox homologous domain (5);	0.272895	0.34725	N	0.003723	T	0.20455	0.0492	N	0.21194	0.64	0.35861	D	0.8275	B	0.31859	0.343	B	0.30782	0.12	T	0.15065	-1.0450	10	0.07175	T	0.84	-40.4695	5.465	0.16637	0.0:0.5519:0.1498:0.2984	.	138	Q7Z614	SNX20_HUMAN	L	138	ENSP00000332062:V138L	ENSP00000332062:V138L	V	-	1	0	SNX20	49265357	0.043000	0.20138	0.828000	0.32881	0.088000	0.18126	0.378000	0.20569	0.705000	0.31890	0.561000	0.74099	GTG			0.587	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256879.2		NM_153337		A	50707856	C	A	50707856	3	1	67	1	0	0	0	0	1	0	0	0	14915	536	19	1	685	1	SNX20	16	50707856	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	3013409	50707856	39646897	40	4796											
AMFR	267	mdanderson.org	37	chr16	56401360	56401360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtgcgggttttacctgaGcagaagtttctccctcttcc	7	13	10	11	1	2	3	0	1	2	2	4	3	3	3	3	1	3	3	3	1	2	4			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr16:56401360G>T	ENST00000290649.5	-	12	1805	c.1595C>A	c.(1594-1596)gCt>gAt	p.A532D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	532					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TTTTACCTGAGCAGAAGTTTC	0.527																																					p.A532D	Pancreas(2;144 323 39528)												.	.			0			c.C1595A												388	350	363					16																	56401360		2198	4300	6498	SO:0001583	missense	267	exon12			ACCTGAGCAGAAG	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1595C>A	16.37:g.56401360G>T	ENSP00000290649:p.Ala532Asp		39	0	0		38	0.08	3	NM_001144	111	0	0	P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245618	0.39697	.	.	ENSG00000159461	ENST00000290649	T	0.16457	2.34	5.8	2.71	0.32032	.	1.205980	0.05665	N	0.587635	T	0.18130	0.0435	L	0.51422	1.61	0.09310	N	1	B;B	0.19200	0.0;0.034	B;B	0.17433	0.001;0.018	T	0.37911	-0.9685	10	0.22706	T	0.39	0.9627	8.7085	0.34369	0.2439:0.0:0.7561:0.0	.	532;181	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	D	532	ENSP00000290649:A532D	ENSP00000290649:A532D	A	-	2	0	AMFR	54958861	0.002000	0.14202	0.005000	0.12908	0.290000	0.27261	1.192000	0.32150	0.320000	0.23234	0.655000	0.94253	GCT			0.527	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256978.2				T	56401360	G	T	56401360	3	4	67	1	0	0	0	0	1	0	0	0	571	971	34	2	348	2	AMFR	16	56401360	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	5693504	56401360	33953393	41	4797											
ARL2BP	23568	mdanderson.org	37	chr16	57283743	57283743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctgagttcaacatggCagccttcaccacaacattac	12	10	6	13	0	2	1	2	1	0	0	3	2	3	1	3	1	4	2	3	1	3	4			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr16:57283743C>T	ENST00000219204.3	+	4	542	c.272C>T	c.(271-273)gCa>gTa	p.A91V	RP11-407G23.3_ENST00000564376.1_RNA|RP11-407G23.4_ENST00000562409.1_RNA|ARL2BP_ENST00000562023.1_Missense_Mutation_p.A51V	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	91					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						TTCAACATGGCAGCCTTCACC	0.418																																					p.A91V													.	.			0			c.C272T												164	155	158					16																	57283743		2198	4300	6498	SO:0001583	missense	23568	exon4			ACATGGCAGCCTT	AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"binder of Arl2"	615407	"retinitis pigmentosa 66 (autosomal recessive)"	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.272C>T	16.37:g.57283743C>T	ENSP00000219204:p.Ala91Val		44	0	0		42	0.07	3	NM_012106	67	0	0	B3KQJ5|Q504R0	Missense_Mutation	SNP	ENST00000219204.3	37	CCDS10776.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369225	0.42003	.	.	ENSG00000102931	ENST00000219204	T	0.43294	0.95	5.84	5.84	0.93424	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.412269	0.23714	U	0.045300	T	0.44350	0.1289	M	0.69823	2.125	0.35704	D	0.815815	B;B	0.23128	0.08;0.005	B;B	0.21151	0.033;0.004	T	0.48636	-0.9018	10	0.30078	T	0.28	-9.9255	15.2402	0.73465	0.0:0.9312:0.0:0.0688	.	59;91	B4DQD8;Q9Y2Y0	.;AR2BP_HUMAN	V	91	ENSP00000219204:A91V	ENSP00000219204:A91V	A	+	2	0	ARL2BP	55841244	0.857000	0.29778	0.999000	0.59377	0.751000	0.42716	1.523000	0.35932	2.765000	0.95021	0.655000	0.94253	GCA			0.418	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257334.2		NM_012106		T	57283743	C	T	57283743	3	4	67	1	0	0	0	0	1	0	0	0	934	710	25	2	286	2	ARL2BP	16	57283743	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	882383	57283743	33071010	42	4798											
WDR16	9482	mdanderson.org	37	chr17	9480015	9480015	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcagaacctcccaaggatGgataacaaaatttcgccgga	16	7	8	10	2	1	1	1	0	0	1	3	4	2	4	3	3	2	0	3	3	6	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr17:9480015G>T	ENST00000306357.4	-	0	0				WDR16_ENST00000576499.1_Start_Codon_SNP_p.M1I|WDR16_ENST00000352665.5_Start_Codon_SNP_p.M1I|STX8_ENST00000573373.1_5'Flank|WDR16_ENST00000396219.3_Start_Codon_SNP_p.M1I|STX8_ENST00000574431.1_5'Flank	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						TCCCAAGGATGGATAACAAAA	0.572											OREG0024167	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.M1I													.	.			0			c.G3T												67	75	72					17																	9480015		1907	4143	6050	SO:0001631	upstream_gene_variant	146845	exon1			AAGGATGGATAAC	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844		17.37:g.9480015G>T	Exception_encountered		37	0	0	657	42	0.07	3	NM_001080556	0		0	O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674552	0.47781	.	.	ENSG00000166596	ENST00000352665;ENST00000396219	T;T	0.31510	1.71;1.49	5.85	5.85	0.93711	.	.	.	.	.	T	0.47619	0.1455	.	.	.	0.80722	D	1	D;B	0.58268	0.982;0.009	P;B	0.53146	0.719;0.004	T	0.46386	-0.9195	8	0.87932	D	0	.	17.0876	0.86615	0.0:0.0:1.0:0.0	.	1;1	Q8N1V2-3;Q8N1V2	.;WDR16_HUMAN	I	1	ENSP00000339449:M1I;ENSP00000379521:M1I	ENSP00000339449:M1I	M	+	3	0	WDR16	9420740	1.000000	0.71417	0.988000	0.46212	0.098000	0.18820	2.194000	0.42668	2.761000	0.94854	0.655000	0.94253	ATG			0.572	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439206.3		NM_004853		T	9480015	G	T	9480015	1	4	67	0	1	0	0	0	0	0	0	0	17300	1348	47	3		3	WDR16	17	9480015	5'Flank	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		9480015	71715195	43	4799											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		155	0.0322580645	5		164	0.04	7	NM_145301	16	0.69	11	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	67	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	5977072	15457087	65738123	44	4800											
ANKFN1	162282	mdanderson.org	37	chr17	54558038	54558038	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaacatacagagaggaatgGgaatggatccaaaagctttc	16	8	10	7	0	1	1	1	0	0	1	3	5	2	4	1	3	3	1	1	3	6	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr17:54558038G>A	ENST00000318698.2	+	16	1994	c.1959G>A	c.(1957-1959)tgG>tgA	p.W653*	ANKFN1_ENST00000566473.2_Nonsense_Mutation_p.W653*	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	653										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAGAGGAATGGGAATGGATCC	0.408																																					p.W653X													ANKFN1,right_upper_lobe,carcinoma,0,1	ANKFN1	0	1	0			c.G1959A												138	129	132					17																	54558038		2203	4300	6503	SO:0001587	stop_gained	162282	exon16			GGAATGGGAATGG	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1959G>A	17.37:g.54558038G>A	ENSP00000321627:p.Trp653*		42	0	0		41	0.07	3	NM_153228	0		0		Nonsense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	36	5.886012	0.97068	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0995	19.3291	0.94278	0.0:0.0:1.0:0.0	.	.	.	.	X	653	.	ENSP00000321627:W653X	W	+	3	0	ANKFN1	51913037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.072000	0.93986	2.553000	0.86117	0.655000	0.94253	TGG			0.408	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338043.1		NM_153228		A	54558038	G	A	54558038	4	1	67	1	0	0	0	0	0	1	0	0	625	1241	43	3	2021	3	ANKFN1	17	54558038	Nonsense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	39100951	54558038	26637172	45	4801											
CLTC	1213	mdanderson.org	37	chr17	57733338	57733338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaaacaatttttgttactGcacctcatgaagccacagct	13	11	7	10	0	1	2	1	1	0	1	1	3	1	2	2	0	5	3	2	0	4	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr17:57733338G>A	ENST00000269122.3	+	6	1193	c.919G>A	c.(919-921)Gca>Aca	p.A307T	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A307T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	307	Globular terminal domain.|WD40-like repeat 7.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTGTTACTGCACCTCATGA	0.368			T	"ALK, TFE3"	"ALCL, renal "																																p.A307T				Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	.	.			0			c.G919A												128	126	127					17																	57733338		2203	4300	6503	SO:0001583	missense	1213	exon6			GTTACTGCACCTC	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.919G>A	17.37:g.57733338G>A	ENSP00000269122:p.Ala307Thr		42	0	0		41	0.07	3	NM_004859	78	0	0	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578651	0.65878	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.29397	1.57;1.57	5.73	5.73	0.89815	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.30541	0.0768	L	0.39566	1.225	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.24541	0.009;0.054	T	0.06320	-1.0833	10	0.20046	T	0.44	.	19.9019	0.96988	0.0:0.0:1.0:0.0	.	307;307	Q00610;Q00610-2	CLH1_HUMAN;.	T	307	ENSP00000269122:A307T;ENSP00000376763:A307T	ENSP00000269122:A307T	A	+	1	0	CLTC	55088120	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.698000	0.92095	0.591000	0.81541	GCA			0.368	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258859.1		NM_004859		A	57733338	G	A	57733338	3	1	67	1	0	0	0	0	1	0	0	0	3568	1319	46	2	941	2	CLTC	17	57733338	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	3175300	57733338	23461872	46	4802											
KCTD1	284252	broad.mit.edu;mdanderson.org	37	chr18	24127403	24127403	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgtcgctgctctcggcGcgcttcttgctccacgacga	3	11	10	17	7	2	0	0	0	2	0	7	2	4	0	2	1	2	4	2	1	0	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr18:24127403G>T	ENST00000408011.3	-	1	545				KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000417602.1_Silent_p.R366R|KCTD1_ENST00000317932.7_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TGCTCTCGGCGCGCTTCTTGC	0.612																																					p.R366R													.	KCTD1	76		0			c.C1098A												34	33	33					18																	24127403		692	1591	2283	SO:0001627	intron_variant	284252	exon1			CTCGGCGCGCTTC	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+1451C>A	18.37:g.24127403G>T			55	0	0		46	0.07	3	NM_001142730	5	0	0	A8K1F5	Silent	SNP	ENST00000408011.3	37	CCDS11888.1																																																																																					0.612	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000446265.1		XM_209091		T	24127403	G	T	24127403	1	4	67	0	1	0	0	0	0	0	0	0	8111	1074	38	1		1	KCTD1	18	24127403	Intron	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		24127403	53949845	47	4803											
SMAD4	4089	mdanderson.org	37	chr18	48586287	48586287	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccatttccaatcatcctgGtaagtgtatttcaaaattga	12	15	5	9	0	2	1	2	1	0	0	5	1	5	1	3	1	0	2	3	1	5	5			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr18:48586287G>T	ENST00000342988.3	+	8	1493		c.e8+1		SMAD4_ENST00000398417.2_Splice_Site|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4						atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|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)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AATCATCCTGGTAAGTGTATT	0.358																																					.													.	.			37	Whole gene deletion(36)|Unknown(1)	pancreas(26)|breast(3)|large_intestine(2)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	c.955+1G>T												106	101	103					18																	48586287		2203	4300	6503	SO:0001630	splice_region_variant	4089	exon8			ATCCTGGTAAGTG	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.955+1G>T	18.37:g.48586287G>T			82	0	0		44	0.07	3	NM_005359	0		0	A8K405	Splice_Site	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986328	0.74589	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7261	0.88365	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMAD4	46840285	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.407000	0.97325	2.466000	0.83321	0.585000	0.79938	.			0.358	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255993.3		NM_005359	Intron	T	48586287	G	T	48586287	5	4	67	1	0	0	0	0	0	0	1	0	14783	1275	44	3	982	3	SMAD4	18	48586287	Splice_Site	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	24458884	48586287	29490961	48	4804											
SERPINB10	5273	broad.mit.edu;bcgsc.ca	37	chr18	61587085	61587085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctgttaactttgtggaaGcttctgatcaaatcagaaag	13	12	9	7	0	3	2	2	1	1	1	3	3	3	3	1	1	3	2	1	1	4	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr18:61587085G>T	ENST00000238508.3	+	5	495	c.436G>T	c.(436-438)Gct>Tct	p.A146S		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	146					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CTTTGTGGAAGCTTCTGATCA	0.403																																					p.A146S													.	SERPINB10	53		0			c.G436T												69	79	76					18																	61587085		2203	4299	6502	SO:0001583	missense	5273	exon4			GTGGAAGCTTCTG	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.436G>T	18.37:g.61587085G>T	ENSP00000238508:p.Ala146Ser		111	0.009009009	1		83	0.07	6	NM_005024	0		0	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528542	0.27299	.	.	ENSG00000242550	ENST00000238508	D	0.81996	-1.56	5.33	1.71	0.24356	Serpin domain (3);	0.725350	0.13688	N	0.369758	T	0.79052	0.4381	L	0.55481	1.735	0.09310	N	1	P	0.38617	0.64	B	0.40602	0.334	T	0.66440	-0.5923	10	0.38643	T	0.18	.	9.8754	0.41200	0.1844:0.0:0.8156:0.0	.	146	P48595	SPB10_HUMAN	S	146	ENSP00000238508:A146S	ENSP00000238508:A146S	A	+	1	0	SERPINB10	59738065	0.914000	0.31030	0.028000	0.17463	0.938000	0.57974	1.320000	0.33666	0.451000	0.26802	0.655000	0.94253	GCT			0.403	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000134012.3		NM_005024		T	61587085	G	T	61587085	3	4	67	1	0	0	0	0	1	0	0	0	14120	971	34	2	450	2	SERPINB10	18	61587085	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	13000798	61587085	16490163	49	4805											
MCOLN1	57192	mdanderson.org	37	chr19	7595282	7595282	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccgcagcagcctggtGtggctcttctcccagctcta	5	9	12	15	1	3	0	0	0	3	0	4	0	3	0	3	3	3	4	3	3	1	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr19:7595282G>T	ENST00000264079.6	+	12	1595	c.1470G>T	c.(1468-1470)gtG>gtT	p.V490V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	490					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						GCAGCCTGGTGTGGCTCTTCT	0.582																																					p.V490V													.	.			0			c.G1470T												253	236	242					19																	7595282		2203	4300	6503	SO:0001819	synonymous_variant	57192	exon12			CCTGGTGTGGCTC	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.1470G>T	19.37:g.7595282G>T			46	0	0		21	0.14	3	NM_020533	35	0	0	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	ENST00000264079.6	37	CCDS12180.1																																																																																					0.582	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458974.2		NM_020533		T	7595282	G	T	7595282	2	4	67	1	0	0	0	0	0	0	0	1	9411	1364	48	3		3	MCOLN1	19	7595282	Silent	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		7595282	51533701	50	4806											
ZBTB32	27033	mdanderson.org	37	chr19	36205860	36205860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagaggcatgctggaGggctcgaggggacagggcta	9	5	19	8	1	0	1	0	0	0	1	1	5	0	4	1	7	1	4	1	7	2	1			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr19:36205860G>T	ENST00000392197.2	+	3	650	c.332G>T	c.(331-333)aGg>aTg	p.R111M	ZBTB32_ENST00000262630.3_Missense_Mutation_p.R111M			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	111					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)			GCATGCTGGAGGGCTCGAGGG	0.597																																					p.R111M													.	.			0			c.G332T												47	50	49					19																	36205860		2203	4300	6503	SO:0001583	missense	27033	exon2			GCTGGAGGGCTCG	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.332G>T	19.37:g.36205860G>T	ENSP00000376035:p.Arg111Met		41	0	0		31	0.1	3	NM_014383	1	0	0	Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020644	0.35606	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.23552	1.9;1.9	5.85	2.44	0.29823	BTB/POZ-like (1);BTB/POZ fold (2);	0.608999	0.14899	N	0.291920	T	0.34483	0.0899	M	0.64404	1.975	0.19945	N	0.999946	D	0.58620	0.983	P	0.52793	0.709	T	0.11131	-1.0600	10	0.49607	T	0.09	-2.448	7.441	0.27183	0.2885:0.0:0.7115:0.0	.	111	Q9Y2Y4	ZBT32_HUMAN	M	111	ENSP00000262630:R111M;ENSP00000376035:R111M	ENSP00000262630:R111M	R	+	2	0	ZBTB32	40897700	0.002000	0.14202	0.249000	0.24280	0.100000	0.18952	-0.051000	0.11885	0.313000	0.23062	0.655000	0.94253	AGG			0.597	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109491.3		NM_014383		T	36205860	G	T	36205860	3	4	67	1	0	0	0	0	1	0	0	0	17558	1000	35	3	334	3	ZBTB32	19	36205860	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	28610578	36205860	22923123	51	4807											
HKR1	284459	mdanderson.org	37	chr19	37853502	37853502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccagaagacacaaactGgggagacaccttacatgtac	14	6	9	12	0	0	3	0	0	0	3	1	4	1	3	3	2	3	1	3	2	4	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr19:37853502G>T	ENST00000324411.4	+	6	1074	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	HKR1_ENST00000589392.1_Missense_Mutation_p.G251W|HKR1_ENST00000541583.2_Missense_Mutation_p.G208W|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.G250W	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	269					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)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GACACAAACTGGGGAGACACC	0.463																																					p.G269W													HKR1,NS,carcinoma,0,1	HKR1	0	1	0			c.G805T												46	45	45					19																	37853502		2203	4300	6503	SO:0001583	missense	284459	exon6			CAAACTGGGGAGA	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.805G>T	19.37:g.37853502G>T	ENSP00000315505:p.Gly269Trp		66	0	0		46	0.07	3	NM_181786	32	0	0	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264663	0.23136	.	.	ENSG00000181666	ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.22134	1.97;1.97;1.97	2.49	-0.938	0.10412	.	.	.	.	.	T	0.31796	0.0808	L	0.49571	1.57	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.275	D;D;D;B	0.97110	0.999;1.0;0.999;0.041	T	0.22521	-1.0214	9	0.87932	D	0	-2.6739	4.4248	0.11498	0.2201:0.0:0.6025:0.1774	.	208;250;269;251	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	W	250;305;269;208	ENSP00000375994:G250W;ENSP00000315505:G269W;ENSP00000438261:G208W	ENSP00000315505:G269W	G	+	1	0	HKR1	42545342	0.926000	0.31397	0.001000	0.08648	0.131000	0.20780	1.643000	0.37217	-0.125000	0.11703	-0.188000	0.12872	GGG			0.463	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000458375.1		NM_181786		T	37853502	G	T	37853502	3	4	67	1	0	0	0	0	1	0	0	0	7209	1348	47	3	819	3	HKR1	19	37853502	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	1647642	37853502	21275481	52	4808											
MARK4	57787	mdanderson.org	37	chr19	45762334	45762334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgttgccggaactccatcGcctcctgtcccgaggagcag	6	7	11	17	4	0	0	0	0	0	0	4	3	3	2	6	2	3	2	6	2	1	1			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr19:45762334G>T	ENST00000262891.4	+	2	470	c.139G>T	c.(139-141)Gcc>Tcc	p.A47S	MARK4_ENST00000300843.4_Missense_Mutation_p.A47S	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	47					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAACTCCATCGCCTCCTGTCC	0.662																																					p.A47S													.	.			0			c.G139T												41	35	37					19																	45762334		2203	4300	6503	SO:0001583	missense	57787	exon2			TCCATCGCCTCCT	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.139G>T	19.37:g.45762334G>T	ENSP00000262891:p.Ala47Ser		59	0	0		38	0.08	3	NM_001199867	16	0	0	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254857	0.59212	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.70986	-0.52;-0.53	4.75	4.75	0.60458	Protein kinase-like domain (1);	0.074445	0.51477	D	0.000092	T	0.76744	0.4030	L	0.50333	1.59	0.51482	D	0.999926	B;D	0.67145	0.346;0.996	B;D	0.64877	0.068;0.93	T	0.72906	-0.4150	10	0.26408	T	0.33	.	13.1284	0.59368	0.0:0.0:1.0:0.0	.	47;47	Q96L34;Q96L34-2	MARK4_HUMAN;.	S	47	ENSP00000262891:A47S;ENSP00000300843:A47S	ENSP00000262891:A47S	A	+	1	0	MARK4	50454174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.116000	0.77119	2.476000	0.83614	0.555000	0.69702	GCC			0.662	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457537.1		NM_031417		T	45762334	G	T	45762334	3	4	67	1	0	0	0	0	1	0	0	0	9331	1087	38	1	145	1	MARK4	19	45762334	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	7908832	45762334	13366649	53	4809											
ZNF264	9422	mdanderson.org	37	chr19	57723935	57723935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcgtggagtgtggaaaGgccttcacccgcatgtcggg	7	8	17	9	3	1	0	1	0	0	0	2	3	1	2	2	4	1	1	2	4	1	1			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr19:57723935G>T	ENST00000263095.6	+	4	1884	c.1470G>T	c.(1468-1470)aaG>aaT	p.K490N	ZNF264_ENST00000536056.1_Missense_Mutation_p.K490N	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGTGTGGAAAGGCCTTCACCC	0.532																																					p.K490N													.	.			0			c.G1470T												66	66	66					19																	57723935		2203	4300	6503	SO:0001583	missense	9422	exon4			TGGAAAGGCCTTC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1470G>T	19.37:g.57723935G>T	ENSP00000263095:p.Lys490Asn		68	0	0		42	0.07	3	NM_003417	2	0	0	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739618	0.49045	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.27890	1.64;1.64	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51941	0.1704	M	0.83852	2.665	0.26922	N	0.96666	D	0.89917	1.0	D	0.87578	0.998	T	0.38045	-0.9679	9	0.87932	D	0	.	4.0625	0.09846	0.3125:0.0:0.6875:0.0	.	490	O43296	ZN264_HUMAN	N	490	ENSP00000263095:K490N;ENSP00000440376:K490N	ENSP00000263095:K490N	K	+	3	2	ZNF264	62415747	0.884000	0.30299	0.999000	0.59377	0.837000	0.47467	1.652000	0.37313	1.589000	0.49982	0.491000	0.48974	AAG			0.532	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465080.1				T	57723935	G	T	57723935	3	4	67	1	0	0	0	0	1	0	0	0	17827	991	35	3	1484	3	ZNF264	19	57723935	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	11961601	57723935	1405048	54	4810											
CHD6	84181	broad.mit.edu;mdanderson.org	37	chr20	40120435	40120435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagacttctcaagtttctGccaggagtctgaagcaggcc	9	9	12	11	1	3	2	1	1	3	1	4	4	3	3	2	2	2	2	2	2	2	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr20:40120435G>T	ENST00000373233.3	-	11	1516	c.1339C>A	c.(1339-1341)Cag>Aag	p.Q447K	CHD6_ENST00000309279.7_Missense_Mutation_p.Q447K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	447	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)				TCAAGTTTCTGCCAGGAGTCT	0.458																																					p.Q447K													.	CHD6	312		0			c.C1339A												88	90	89					20																	40120435		2203	4300	6503	SO:0001583	missense	0	exon11			GTTTCTGCCAGGA	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.1339C>A	20.37:g.40120435G>T	ENSP00000362330:p.Gln447Lys		53	0	0		72	0.06	4	NM_032221	6	0	0	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	7.860	0.725817	0.15439	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	D;D	0.94280	-1.9;-3.39	4.67	4.67	0.58626	.	0.000000	0.52532	D	0.000065	D	0.86322	0.5905	N	0.17872	0.535	0.54753	D	0.999985	B	0.17038	0.02	B	0.11329	0.006	T	0.81256	-0.1015	10	0.02654	T	1	-15.4079	17.9265	0.88985	0.0:0.0:1.0:0.0	.	447	Q8TD26	CHD6_HUMAN	K	447	ENSP00000362330:Q447K;ENSP00000308684:Q447K	ENSP00000308684:Q447K	Q	-	1	0	CHD6	39553849	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.577000	0.74027	2.290000	0.77057	0.561000	0.74099	CAG			0.458	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079270.1				T	40120435	G	T	40120435	3	4	67	1	0	0	0	0	1	0	0	0	3331	1328	46	2	6916	2	CHD6	20	40120435	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		40120435	22905085	55	4811											
MCM3AP	8888	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	47695160	47695160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctacgggtctcccgcatgtaCctctccttctcaggacacat	7	11	7	16	2	3	0	1	0	3	0	6	1	3	1	3	2	2	2	3	2	2	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr21:47695160C>A	ENST00000397708.1	-	7	2192	c.1938G>T	c.(1936-1938)agG>agT	p.R646S	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R646S			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	646	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCCGCATGTACCTCTCCTTCT	0.567																																					p.R646S													.	MCM3AP	146		0			c.G1938T												101	81	88					21																	47695160		2203	4300	6503	SO:0001583	missense	8888	exon6			CATGTACCTCTCC	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1938G>T	21.37:g.47695160C>A	ENSP00000380820:p.Arg646Ser		118	0.0084745763	1		135	0.07	10	NM_003906	39	0.05	2	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038055	0.75617	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.07567	3.18;3.18	5.73	-1.22	0.09494	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.92026	3.265	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.04294	-1.0962	10	0.87932	D	0	-29.2558	0.9872	0.01449	0.3802:0.2402:0.1906:0.1889	.	646	O60318	MCM3A_HUMAN	S	646	ENSP00000380820:R646S;ENSP00000291688:R646S	ENSP00000291688:R646S	R	-	3	2	MCM3AP	46519588	0.007000	0.16637	0.978000	0.43139	0.987000	0.75469	-1.042000	0.03539	-0.552000	0.06167	0.655000	0.94253	AGG			0.567	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207254.1		NM_003906		A	47695160	C	A	47695160	3	1	67	1	0	0	0	0	1	0	0	0	9404	506	18	3	4096	3	MCM3AP	21	47695160	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10		47695160	434735	56	4812											
SSTR3	6753	mdanderson.org	37	chr22	37602632	37602632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacttctccccagtggaaGcctcttggggtaggagctgc	6	10	14	11	0	2	0	0	0	2	0	3	3	2	3	3	5	3	2	3	5	2	3			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr22:37602632G>T	ENST00000328544.3	-	2	1744	c.1211C>A	c.(1210-1212)gCt>gAt	p.A404D	SSTR3_ENST00000402501.1_Missense_Mutation_p.A404D	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	404					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CCCAGTGGAAGCCTCTTGGGG	0.667																																					p.A404D													.	.			0			c.C1211A												58	60	59					22																	37602632		2203	4300	6503	SO:0001583	missense	6753	exon2			GTGGAAGCCTCTT		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1211C>A	22.37:g.37602632G>T	ENSP00000330138:p.Ala404Asp		25	0	0		31	0.1	3	NM_001051	0		0	A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	7.375	0.627563	0.14257	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.72942	-0.7;-0.7	5.48	4.26	0.50523	.	2.167080	0.01889	N	0.038408	T	0.66218	0.2767	L	0.36672	1.1	0.30055	N	0.811429	B	0.19817	0.039	B	0.14023	0.01	T	0.51403	-0.8710	10	0.44086	T	0.13	.	11.6437	0.51249	0.1529:0.0:0.8471:0.0	.	404	P32745	SSR3_HUMAN	D	404	ENSP00000330138:A404D;ENSP00000384904:A404D	ENSP00000330138:A404D	A	-	2	0	SSTR3	35932578	0.999000	0.42202	0.530000	0.27963	0.116000	0.19942	3.228000	0.51270	2.572000	0.86782	0.491000	0.48974	GCT			0.667	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318802.1				T	37602632	G	T	37602632	3	4	67	1	0	0	0	0	1	0	0	0	15222	971	34	2	49	2	SSTR3	22	37602632	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		37602632	13701934	57	4813											
MAPK8IP2	23542	broad.mit.edu;mdanderson.org	37	chr22	51045123	51045123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaccgtccacctgcgccCtcctgcctcctgtgacctcg	4	9	8	20	3	0	2	0	2	0	0	4	2	3	2	8	0	2	0	8	0	0	0			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chr22:51045123C>A	ENST00000399908.2	+	7	2080	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.P443H|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.P426H|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.P341H|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.P720H|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.P455H	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	721	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)		CACCTGCGCCCTCCTGCCTCC	0.627																																					.													.	MAPK8IP2	78		0			.												26	29	28					22																	51045123		2000	4169	6169	SO:0001583	missense	23542	.			TGCGCCCTCCTGC	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.1364C>A	22.37:g.51045123C>A	ENSP00000382792:p.Pro455His		70	0	0		52	0.08	4	.	1	1	1	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.591052	0.86851	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.20069	2.48;2.48;2.48;2.48;2.48;2.1	4.69	4.69	0.59074	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52442	-0.8575	9	0.87932	D	0	-6.1339	15.1613	0.72788	0.0:1.0:0.0:0.0	.	693;721	E7EQG6;Q13387	.;JIP2_HUMAN	H	455;720;443;341;455;426	ENSP00000382796:P455H;ENSP00000330572:P720H;ENSP00000404914:P443H;ENSP00000340015:P341H;ENSP00000382792:P455H;ENSP00000008876:P426H	ENSP00000008876:P426H	P	+	2	0	MAPK8IP2	49391989	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	4.565000	0.60836	2.434000	0.82447	0.561000	0.74099	CCT			0.627	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000316731.2		NM_012324		A	51045123	C	A	51045123	3	1	67	1	0	0	0	0	1	0	0	0	9301	681	24	3	2285	3	MAPK8IP2	22	51045123	Missense_Mutation	SNP	C	TCGA-2G-AALO-01A-12D-A42Y-10	13442491	51045123	259443	58	4814											
BCOR	54880	broad.mit.edu	37	chrX	39916463	39916463	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatattcaaggaggtgtcGcacaatgttgagccagcccc	10	8	11	12	1	1	1	1	1	0	0	2	2	1	2	4	2	2	2	4	2	3	3	rs199676230		TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chrX:39916463G>A	ENST00000378444.4	-	11	4768	c.4540C>T	c.(4540-4542)Cga>Tga	p.R1514*	BCOR_ENST00000378463.1_Nonsense_Mutation_p.R357*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.R1462*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.R1480*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.R1480*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1514					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						AGGAGGTGTCGCACAATGTTG	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																														p.R1514X				Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	BCOR	351		0			c.C4540T												154	104	121					X																	39916463		2202	4300	6502	SO:0001587	stop_gained	54880	exon11			GGTGTCGCACAAT	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.4540C>T	X.37:g.39916463G>A	ENSP00000367705:p.Arg1514*		119	0	0		183	0.02	4	NM_001123385	26	0	0	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	46	12.577683	0.99679	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	.	.	.	5.46	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8224	10.3036	0.43667	0.0:0.2697:0.5875:0.1428	.	.	.	.	X	384;357;1462;1480;1514;1480;187	.	ENSP00000345923:R1480X	R	-	1	2	BCOR	39801407	1.000000	0.71417	0.702000	0.30337	0.988000	0.76386	4.473000	0.60196	0.479000	0.27511	0.600000	0.82982	CGA			0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000060666.2		NM_017745		A	39916463	G	A	39916463	4	1	67	1	0	0	0	0	0	1	0	0	1386	1095	38	1	747	1	BCOR	23	39916463	Nonsense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10		39916463	115354097	59	4815											
STARD8	9754	broad.mit.edu	37	chrX	67940201	67940201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccacgtgcagcgcacggGccagccactgccacagagca	10	3	11	17	3	0	1	0	0	0	1	1	1	1	1	4	1	5	3	4	1	0	0	rs201883068|rs373427165		TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chrX:67940201G>C	ENST00000252336.6	+	7	2117	c.1745G>C	c.(1744-1746)gGc>gCc	p.G582A	STARD8_ENST00000374597.3_Missense_Mutation_p.G582A|STARD8_ENST00000374599.3_Missense_Mutation_p.G662A	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	582	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAGCGCACGGGCCAGCCACTG	0.617																																					p.G662A													.	STARD8	282		0			c.G1985C												34	24	28					X																	67940201		2202	4298	6500	SO:0001583	missense	9754	exon8			GCACGGGCCAGCC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1745G>C	X.37:g.67940201G>C	ENSP00000252336:p.Gly582Ala		87	0.1609195402	14		172	0.21	36	NM_001142503	2	0	0	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671428	0.88348	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.25250	1.81;1.81;1.81	4.45	4.45	0.53987	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.50871	0.1641	M	0.87269	2.87	0.80722	D	1	P;P	0.52170	0.854;0.951	P;P	0.58721	0.844;0.806	T	0.60198	-0.7310	10	0.66056	D	0.02	.	13.5176	0.61549	0.0:0.0:1.0:0.0	.	662;582	Q92502-2;Q92502	.;STAR8_HUMAN	A	582;662;582	ENSP00000252336:G582A;ENSP00000363727:G662A;ENSP00000363725:G582A	ENSP00000252336:G582A	G	+	2	0	STARD8	67856926	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.112000	0.94314	2.050000	0.60909	0.600000	0.82982	GGC			0.617	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057026.2		NM_014725		C	67940201	G	C	67940201	3	2	67	1	0	0	0	0	1	0	0	0	15286	1203	42	5	2015	5	STARD8	23	67940201	Missense_Mutation	SNP	G	TCGA-2G-AALO-01A-12D-A42Y-10	28023738	67940201	87330359	60	4816											
BRWD3	254065	broad.mit.edu	37	chrX	79932398	79932398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctctccctcttccccTccccctagtgccacctccac	3	11	2	25	0	2	0	0	0	2	0	8	0	7	0	10	0	1	0	10	0	1	2			TCGA-2G-AALO-01A-12D-A42Y-10	TCGA-2G-AALO-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f1e9dc7f-1736-448c-b749-3382f1c9ec34	c3b27ff2-b769-4ef1-bb6c-7faccf2a04ec	g.chrX:79932398T>C	ENST00000373275.4	-	41	5335	c.5119A>G	c.(5119-5121)Agg>Ggg	p.R1707G	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1707	Gly-rich.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						cctcttcccctccccctagtg	0.557																																					p.R1707G													.	BRWD3	251		0			c.A5119G												133	104	114					X																	79932398		2203	4300	6503	SO:0001583	missense	254065	exon41			TTCCCCTCCCCCT		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5119A>G	X.37:g.79932398T>C	ENSP00000362372:p.Arg1707Gly		72	0.0277777778	2		136	0.03	4	NM_153252	1	0	0	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	t	4.709	0.131871	0.08981	.	.	ENSG00000165288	ENST00000373275	T	0.75154	-0.91	4.88	-0.56	0.11789	.	0.421330	0.24594	N	0.037183	T	0.45617	0.1351	N	0.08118	0	0.22292	N	0.999222	B	0.09022	0.002	B	0.08055	0.003	T	0.22906	-1.0203	9	.	.	.	-9.9704	5.6556	0.17640	0.0:0.1554:0.4508:0.3939	.	1707	Q6RI45	BRWD3_HUMAN	G	1707	ENSP00000362372:R1707G	.	R	-	1	2	BRWD3	79819054	0.469000	0.25846	0.537000	0.28052	0.328000	0.28507	0.196000	0.17176	-0.192000	0.10432	-1.708000	0.00717	AGG			0.557	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057344.1		NM_153252		C	79932398	T	C	79932398	3	2	67	1	0	0	0	0	1	0	0	0	1528	1550	54	4	293	4	BRWD3	23	79932398	Missense_Mutation	SNP	T	TCGA-2G-AALO-01A-12D-A42Y-10	11992197	79932398	75338162	61	4817											
PLEKHG5	57449	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	6537598	6537598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtgctcaccttgtggggGaaggtcgaagcggacatgcc	7	8	15	11	2	1	0	1	0	0	0	2	3	1	2	3	4	3	1	3	4	2	1	rs140687324	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:6537598G>T	ENST00000400915.3	-	3	268	c.202C>A	c.(202-204)Ccc>Acc	p.P68T	PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P91T|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.P12T|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.P89T|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.P49T|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.P12T|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.P12T|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.P81T|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.P89T|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P12T|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.P12T|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P12T	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	68					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTTGTGGGGGAAGGTCGAAG	0.617													G|||	4	0.000798722	0	0	5008	,	,		16383	0		0.002	False		,,,				2504	0.002				p.P91T													.	PLEKHG5	66		0			c.C271A							G	THR/PRO,THR/PRO,THR/PRO,THR/PRO,THR/PRO	0,4406		0,0,2203	82	82	82		202,34,34,34,265	3.6	1	1	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense,missense,missense,missense	PLEKHG5	NM_001042663.1,NM_001042664.1,NM_001042665.1,NM_020631.3,NM_198681.2	38,38,38,38,38	0,4,6499	TT,TG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	68/1063,12/1007,12/1007,12/1007,89/1084	6537598	4,13002	2203	4300	6503	SO:0001583	missense	57449	exon3			GTGGGGGAAGGTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.202C>A	1.37:g.6537598G>T	ENSP00000383706:p.Pro68Thr		53	0	0		35	0.14	5	NM_001265592	6	0.17	1	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	CCDS41241.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.00	2.703194	0.48412	0.0	4.65E-4	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.71579	0.65;-0.54;-0.54;0.65;0.65;0.65;-0.54;-0.58;0.65;-0.54;0.65;-0.58	4.52	3.58	0.41010	.	0.147380	0.46758	D	0.000261	T	0.64091	0.2567	L	0.53249	1.67	0.33088	D	0.537585	P;P;P;P;P	0.48503	0.911;0.852;0.856;0.911;0.77	B;B;B;B;B	0.42593	0.392;0.392;0.219;0.392;0.219	T	0.73990	-0.3808	10	0.72032	D	0.01	-23.941	8.1342	0.31046	0.0909:0.1628:0.7463:0.0	.	81;12;89;89;68	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	T	89;12;12;68;89;49;12;12;81;12;91;12	ENSP00000366977:P89T;ENSP00000344570:P12T;ENSP00000383704:P12T;ENSP00000383706:P68T;ENSP00000366969:P89T;ENSP00000366961:P49T;ENSP00000366957:P12T;ENSP00000366954:P12T;ENSP00000441445:P81T;ENSP00000366966:P12T;ENSP00000439625:P91T;ENSP00000437710:P12T	ENSP00000344570:P12T	P	-	1	0	PLEKHG5	6460185	1.000000	0.71417	0.996000	0.52242	0.825000	0.46686	5.113000	0.64640	0.986000	0.38683	0.407000	0.27541	CCC			0.617	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000002631.1		NM_020631		T	6537598	G	T	6537598	3	4	68	1	0	0	0	0	1	0	0	0	12090	1174	41	3	3066	3	PLEKHG5	1	6537598	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		6537598	242713023	1	4818											
SLC2A1	6513	mdanderson.org	37	chr1	43395320	43395320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccacagcgatgaggatggGctggcggtaggcgggggagc	8	4	20	9	3	0	1	0	1	0	0	0	4	0	3	1	7	2	2	1	7	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:43395320G>A	ENST00000426263.3	-	6	989	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	271					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	ATGAGGATGGGCTGGCGGTAG	0.632																																					p.P271S													.	.			0			c.C811T												73	70	71					1																	43395320		2203	4300	6503	SO:0001583	missense	6513	exon6			GGATGGGCTGGCG	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.811C>T	1.37:g.43395320G>A	ENSP00000416293:p.Pro271Ser		56	0	0		43	0.07	3	NM_006516	1618	0	0	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745577	0.89663	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	D;D	0.82984	-1.67;-1.67	5.14	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.87456	2.885	0.80722	D	1	D	0.55385	0.971	D	0.64506	0.926	D	0.93025	0.6443	10	0.87932	D	0	.	16.1096	0.81250	0.0:0.0:1.0:0.0	.	271	P11166	GTR1_HUMAN	S	271;271;213;176	ENSP00000416293:P271S;ENSP00000395521:P176S	ENSP00000361579:P271S	P	-	1	0	SLC2A1	43167907	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.966000	0.87956	2.393000	0.81446	0.555000	0.69702	CCC			0.632	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000020358.2		NM_006516		A	43395320	G	A	43395320	3	1	68	1	0	0	0	0	1	0	0	0	14561	1203	42	2	687	2	SLC2A1	1	43395320	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	36857722	43395320	205855301	2	4819											
C1orf84	112950	mdanderson.org	37	chr1	43855647	43855647	+	5'Flank	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggctgtgtgatggcctCggagcgcccggagccggagg	5	5	21	10	4	0	1	0	1	0	0	1	5	0	5	3	7	2	1	3	7	0	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:43855647C>A	ENST00000372457.4	-	0	0				SZT2_ENST00000372450.4_Nonsense_Mutation_p.S3*|MED8_ENST00000372455.4_5'Flank|RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000290663.6_5'Flank|SZT2_ENST00000310739.4_Nonsense_Mutation_p.S3*|SZT2_ENST00000562955.1_Nonsense_Mutation_p.S3*	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8						gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGATGGCCTCGGAGCGCCCG	0.741																																					p.S3X													.	.			0			c.C8A												5	7	6					1																	43855647		2036	3997	6033	SO:0001631	upstream_gene_variant	23334	exon1			TGGCCTCGGAGCG	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421		1.37:g.43855647C>A	Exception_encountered		15	0	0		24	0.13	3	NM_015284	1	0	0	A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Nonsense_Mutation	SNP	ENST00000372457.4	37	CCDS487.2	.	.	.	.	.	.	.	.	.	.	C	36	5.740772	0.96873	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.494	0.67670	0.0:1.0:0.0:0.0	.	.	.	.	X	3	.	ENSP00000312234:S3X	S	+	2	0	AL139289.1	43628234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.342000	0.52159	2.667000	0.90743	0.655000	0.94253	TCG			0.741	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318959.1		NM_052877		A	43855647	C	A	43855647	1	1	68	0	1	0	0	0	0	0	0	0	2063	893	31	1		1	C1orf84	1	43855647	5'Flank	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	460327	43855647	205394974	3	4820											
MTF2	22823	broad.mit.edu;ucsc.edu	37	chr1	93580262	93580262	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taggagccactggaagtgggGaaatggtctgtacaatatgt	12	10	14	5	0	1	0	0	0	1	0	1	3	1	3	1	5	2	1	1	5	6	3			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:93580262G>T	ENST00000370298.4	+	4	593	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Nonsense_Mutation_p.E102*|MTF2_ENST00000540243.1_5'UTR|MTF2_ENST00000545708.1_5'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	102					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TGGAAGTGGGGAAATGGTCTG	0.343																																					p.E102X													.	MTF2	51		0			c.G304T												79	81	80					1																	93580262		2203	4300	6503	SO:0001587	stop_gained	22823	exon4			AGTGGGGAAATGG	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.304G>T	1.37:g.93580262G>T	ENSP00000359321:p.Glu102*		177	0.0056497175	1		202	0.29	58	NM_001164392	27	0.26	7	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Nonsense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445481	0.96187	.	.	ENSG00000143033	ENST00000370298;ENST00000370303	.	.	.	5.24	4.33	0.51752	.	0.097855	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.8633	10.1707	0.42908	0.0723:0.0:0.7917:0.136	.	.	.	.	X	102	.	ENSP00000359321:E102X	E	+	1	0	MTF2	93352850	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.508000	0.81686	1.215000	0.43411	-0.253000	0.11424	GAA			0.343	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000028075.3		NM_007358		T	93580262	G	T	93580262	4	4	68	1	0	0	0	0	0	1	0	0	9939	1175	41	3	318	3	MTF2	1	93580262	Nonsense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	49724615	93580262	155670359	4	4821											
NUDT17	200035	hgsc.bcm.edu	37	chr1	145586679	145586679	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaagctgcacttttacaCggtgggggtgttctgtggag	7	12	16	6	1	1	0	0	0	1	0	1	1	1	1	0	5	3	4	0	5	2	4	rs199513201|rs150364859	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:145586679C>A	ENST00000334513.5	-	8	908	c.897G>T	c.(895-897)ccG>ccT	p.P299P	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	299							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACTTTTACACGGTGGGGGTG	0.522																																					p.P299P													NUDT17,NS,carcinoma,-1,1	NUDT17	-1	1	0			c.G897T												106	107	107					1																	145586679		2203	4300	6503	SO:0001819	synonymous_variant	200035	exon8			TTTACACGGTGGG	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"Nudix motif containing"	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.897G>T	1.37:g.145586679C>A			118	0.0169491525	2		70	0.07	5	NM_001012758	4	0	0		Silent	SNP	ENST00000334513.5	37	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868653	0.17322	.	.	ENSG00000186364	ENST00000444015	.	.	.	4.47	-3.47	0.04753	.	.	.	.	.	T	0.07279	0.0184	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	-0.4276	3.1648	0.06531	0.4582:0.1882:0.0:0.3536	.	.	.	.	L	183	.	.	R	-	2	0	NUDT17	144298036	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.500000	0.06405	-0.660000	0.05352	-0.300000	0.09419	CGT			0.522	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000038541.3		XM_496395		A	145586679	C	A	145586679	2	1	68	1	0	0	0	0	0	0	0	1	10751	523	19	1		1	NUDT17	1	145586679	Silent	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	52006417	145586679	103663942	5	4822											
RASAL2	9462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	178063808	178063808	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagtccgtgtgccagcaaCagagctgggtccgggtgtac	7	8	16	10	2	0	1	0	0	0	1	2	2	2	2	3	3	5	3	3	3	2	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:178063808C>T	ENST00000367649.3	+	1	533	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	RASAL2-AS1_ENST00000421505.1_lincRNA|RASAL2_ENST00000448150.3_Nonsense_Mutation_p.Q43*			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						GTGCCAGCAACAGAGCTGGGT	0.597																																					p.Q61X													.	.			0			c.C181T												48	40	42					1																	178063808		2203	4300	6503	SO:0001587	stop_gained	9462	exon1			CAGCAACAGAGCT	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.181C>T	1.37:g.178063808C>T	ENSP00000356621:p.Gln61*		212	0	0		219	0.24	52	NM_170692	1	1	1	F8W755|O95174|Q2TB22|Q5TFU9	Nonsense_Mutation	SNP	ENST00000367649.3	37	CCDS1321.2	.	.	.	.	.	.	.	.	.	.	C	39	7.587497	0.98374	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	.	.	.	4.41	3.48	0.39840	.	0.000000	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	9.243	0.37509	0.0:0.8951:0.0:0.1049	.	.	.	.	X	43;61	.	ENSP00000356621:Q61X	Q	+	1	0	RASAL2	176330431	0.983000	0.35010	0.993000	0.49108	0.967000	0.64934	2.772000	0.47678	2.152000	0.67230	0.491000	0.48974	CAG			0.597	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000352415.1		NM_170692		T	178063808	C	T	178063808	4	4	68	1	0	0	0	0	0	1	0	0	13087	479	17	3	183	3	RASAL2	1	178063808	Nonsense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	32477129	178063808	71186813	6	4823											
CENPF	1063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	214788200	214788200	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaaaaaaccgagggtaCaaacctgaaaagggagaatc	21	4	10	6	1	0	3	0	2	0	1	1	5	0	3	2	2	3	1	2	2	9	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:214788200C>G	ENST00000366955.3	+	3	356	c.188C>G	c.(187-189)aCa>aGa	p.T63R		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)		ACCGAGGGTACAAACCTGAAA	0.348																																					p.T63R	Colon(80;575 1284 11000 14801 43496)												.	.			0			c.C188G												41	43	43					1																	214788200		2202	4300	6502	SO:0001583	missense	1063	exon3			AGGGTACAAACCT	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.188C>G	1.37:g.214788200C>G	ENSP00000355922:p.Thr63Arg		302	0	0		271	0.25	68	NM_016343	2	0	0	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832165	0.50845	.	.	ENSG00000117724	ENST00000366955	T	0.24151	1.87	5.12	4.2	0.49525	Centromere protein Cenp-F, N-terminal (1);	.	.	.	.	T	0.30572	0.0769	.	.	.	0.25139	N	0.990517	D	0.58620	0.983	P	0.50659	0.647	T	0.09037	-1.0693	8	0.22706	T	0.39	.	13.2693	0.60152	0.0:0.9238:0.0:0.0762	.	63	P49454	CENPF_HUMAN	R	63	ENSP00000355922:T63R	ENSP00000355922:T63R	T	+	2	0	CENPF	212854823	0.521000	0.26258	0.361000	0.25849	0.798000	0.45092	5.690000	0.68241	1.162000	0.42619	0.644000	0.83932	ACA			0.348	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000089749.1		NM_016343		G	214788200	C	G	214788200	3	3	68	1	0	0	0	0	1	0	0	0	3233	478	17	5	194	5	CENPF	1	214788200	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	36724392	214788200	34462421	7	4824											
FBXO41	150726	mdanderson.org	37	chr2	73493772	73493772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctggcctcccgcgccGccgtctccttcaggaactgg	3	8	13	17	5	2	0	1	0	1	0	4	1	3	1	5	4	1	1	5	4	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:73493772G>A	ENST00000521871.1	-	3	1359	c.944C>T	c.(943-945)gCg>gTg	p.A315V	FBXO41_ENST00000295133.5_Missense_Mutation_p.A376V|FBXO41_ENST00000520530.2_Missense_Mutation_p.A315V			Q8TF61	FBX41_HUMAN	F-box protein 41	315										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CTCCCGCGCCGCCGTCTCCTT	0.672																																					p.A315V													.	.			0			c.C944T												31	35	34					2																	73493772		2022	4177	6199	SO:0001583	missense	150726	exon2			CGCGCCGCCGTCT	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.944C>T	2.37:g.73493772G>A	ENSP00000428646:p.Ala315Val		34	0	0		35	0.09	3	NM_001080410	0		0	G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041493	0.75732	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	T;T	0.38240	1.15;1.15	5.17	5.17	0.71159	.	0.119518	0.56097	D	0.000031	T	0.56978	0.2022	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.51865	-0.8651	10	0.30078	T	0.28	.	17.2116	0.86931	0.0:0.0:1.0:0.0	.	315	Q8TF61	FBX41_HUMAN	V	376;315;376	ENSP00000295133:A376V;ENSP00000428646:A315V	ENSP00000295133:A376V	A	-	2	0	FBXO41	73347280	1.000000	0.71417	0.503000	0.27626	0.837000	0.47467	9.486000	0.97944	2.408000	0.81797	0.453000	0.30009	GCG			0.672	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377381.1				A	73493772	G	A	73493772	3	1	68	1	0	0	0	0	1	0	0	0	5763	1087	38	1	1727	1	FBXO41	2	73493772	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		73493772	169705601	8	4825											
LRRTM4	80059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	77746912	77746912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagctctctgagcacccGtgagcataacaagcagcagt	12	6	11	12	1	1	2	0	2	1	0	2	2	1	2	1	1	6	6	1	1	3	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:77746912G>C	ENST00000409093.1	-	3	419	c.83C>G	c.(82-84)aCg>aGg	p.T28R	LRRTM4_ENST00000409884.1_Missense_Mutation_p.T28R|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T29R|LRRTM4_ENST00000409088.3_Missense_Mutation_p.T28R|LRRTM4_ENST00000409282.1_Missense_Mutation_p.T29R			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	28					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.T28M(2)|p.T28K(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)		CTGAGCACCCGTGAGCATAAC	0.443																																					p.T28R													LRRTM4_ENST00000409911,NS,carcinoma,0,10	LRRTM4_ENST00000409911	0	10	4	Substitution - Missense(4)	lung(2)|endometrium(2)	c.C83G												69	68	68					2																	77746912		2028	4198	6226	SO:0001583	missense	80059	exon3			GCACCCGTGAGCA	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.83C>G	2.37:g.77746912G>C	ENSP00000386357:p.Thr28Arg		184	0	0		141	0.27	38	NM_024993	0		0	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602119	0.28534	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282;ENST00000456154	T;T;T;T;T	0.52983	0.64;0.67;0.67;0.77;0.78	5.96	5.96	0.96718	.	0.435314	0.26146	N	0.026067	T	0.33760	0.0874	N	0.14661	0.345	0.24525	N	0.99415	B;B;P	0.38597	0.242;0.355;0.639	B;B;B	0.39590	0.16;0.304;0.212	T	0.36432	-0.9748	10	0.56958	D	0.05	.	12.3072	0.54908	0.0774:0.0:0.9226:0.0	.	29;28;28	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	R	29;28;28;28;29;17	ENSP00000387228:T29R;ENSP00000387297:T28R;ENSP00000386357:T28R;ENSP00000386236:T28R;ENSP00000386286:T29R	ENSP00000386236:T28R	T	-	2	0	LRRTM4	77600420	0.017000	0.18338	0.998000	0.56505	0.995000	0.86356	1.961000	0.40432	2.826000	0.97356	0.655000	0.94253	ACG			0.443	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000328225.1		NM_024993		C	77746912	G	C	77746912	3	2	68	1	0	0	0	0	1	0	0	0	9058	1145	40	5	1703	5	LRRTM4	2	77746912	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	4253140	77746912	165452461	9	4826											
IL18RAP	8807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	103061722	103061722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtcactcagcgtgatcttCgcaggaagtttgtttgcttt	8	15	10	8	2	3	1	2	1	1	0	4	2	3	2	0	1	2	4	0	1	2	4			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:103061722C>T	ENST00000264260.2	+	9	1583	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	332	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						GCGTGATCTTCGCAGGAAGTT	0.423																																					p.R332C													IL18RAP,NS,carcinoma,0,2	IL18RAP	0	2	0			c.C994T												115	106	109					2																	103061722		2203	4300	6503	SO:0001583	missense	8807	exon9			GATCTTCGCAGGA	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.994C>T	2.37:g.103061722C>T	ENSP00000264260:p.Arg332Cys		165	0	0		118	0.23	27	NM_003853	1	0	0	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573819	0.45902	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.13901	2.55;2.55	5.63	3.77	0.43336	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.326070	0.04542	N	0.388360	T	0.29028	0.0721	L	0.57536	1.79	0.09310	N	1	D	0.71674	0.998	P	0.56612	0.802	T	0.07309	-1.0779	10	0.38643	T	0.18	.	8.6267	0.33895	0.4458:0.438:0.1162:0.0	.	332	O95256	I18RA_HUMAN	C	332;190	ENSP00000264260:R332C;ENSP00000387201:R190C	ENSP00000264260:R332C	R	+	1	0	IL18RAP	102428154	0.000000	0.05858	0.001000	0.08648	0.587000	0.36485	0.309000	0.19332	0.662000	0.31006	0.655000	0.94253	CGC			0.423	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253291.2		NM_003853		T	103061722	C	T	103061722	3	4	68	1	0	0	0	0	1	0	0	0	7663	884	31	1	1020	1	IL18RAP	2	103061722	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	25314810	103061722	140137651	10	4827											
MALL	7851	broad.mit.edu	37	chr2	110849314	110849314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtatactatgtgggtggCggctaccatggtccagacca	8	9	15	9	1	0	1	0	0	0	1	1	1	1	1	3	6	2	2	3	6	4	4	rs141817647	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:110849314C>T	ENST00000272462.2	-	2	912	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	47	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		ATGTGGGTGGCGGCTACCATG	0.468																																					p.A47T													.	MALL	14		0			c.G139A							C	THR/ALA	0,4404		0,0,2202	89	78	82		139	2.6	0.6	2	dbSNP_134	82	5,8585	4.3+/-15.6	0,5,4290	no	missense	MALL	NM_005434.4	58	0,5,6492	TT,TC,CC		0.0582,0.0,0.0385	benign	47/154	110849314	5,12989	2202	4295	6497	SO:0001583	missense	7851	exon2			GGGTGGCGGCTAC	U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.139G>A	2.37:g.110849314C>T	ENSP00000272462:p.Ala47Thr		131	0	0		144	0.03	5	NM_005434	2	0	0	B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	C	4.006	-0.001483	0.07819	0.0	5.82E-4	ENSG00000144063	ENST00000272462	T	0.24538	1.85	3.47	2.57	0.30868	Marvel (1);MARVEL-like domain (1);	0.000000	0.53938	D	0.000051	T	0.32041	0.0816	M	0.78916	2.43	0.80722	D	1	P	0.47253	0.892	P	0.45577	0.486	T	0.09100	-1.0690	10	0.27082	T	0.32	-15.8102	9.9635	0.41710	0.2047:0.7953:0.0:0.0	.	47	Q13021	MALL_HUMAN	T	47	ENSP00000272462:A47T	ENSP00000272462:A47T	A	-	1	0	MALL	110206603	0.990000	0.36364	0.647000	0.29507	0.072000	0.16883	3.130000	0.50508	0.552000	0.29026	0.313000	0.20887	GCC			0.468	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253921.1		NM_005434		T	110849314	C	T	110849314	3	4	68	1	0	0	0	0	1	0	0	0	9217	768	27	1	334	1	MALL	2	110849314	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	7787592	110849314	132350059	11	4828											
PSD4	23550	mdanderson.org	37	chr2	113956425	113956425	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccagcgcagattcgtgcgGcccatcctgcccgtgggccc	4	7	12	18	4	0	1	0	0	0	1	3	1	2	1	5	2	3	1	5	2	0	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:113956425G>T	ENST00000245796.6	+	15	2928	c.2733G>T	c.(2731-2733)cgG>cgT	p.R911R	PSD4_ENST00000441564.3_Silent_p.R882R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	911					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATTCGTGCGGCCCATCCTGC	0.716																																					p.R911R													.	.			0			c.G2733T												10	11	10					2																	113956425		2166	4222	6388	SO:0001819	synonymous_variant	23550	exon15			CGTGCGGCCCATC	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2733G>T	2.37:g.113956425G>T			8	0	0		13	0.15	2	NM_012455	2	0	0	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																					0.716	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330789.1		NM_012455		T	113956425	G	T	113956425	2	4	68	1	0	0	0	0	0	0	0	1	12669	1190	42	2		2	PSD4	2	113956425	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	3107111	113956425	129242948	12	4829											
SCG2	7857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	224463779	224463779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagggattataatctgggctGctttcttccttatgagcttg	7	17	10	7	0	2	1	0	1	2	0	3	2	3	2	1	2	2	3	1	2	4	7			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:224463779G>A	ENST00000305409.2	-	2	454	c.222C>T	c.(220-222)agC>agT	p.S74S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATCTGGGCTGCTTTCTTCCT	0.463																																					p.S74S													.	.			0			c.C222T												128	134	132					2																	224463779		2203	4300	6503	SO:0001819	synonymous_variant	7857	exon2			TGGGCTGCTTTCT	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.222C>T	2.37:g.224463779G>A			216	0	0		218	0.18	40	NM_003469	3	0.33	1	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																					0.463	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256870.2		NM_003469		A	224463779	G	A	224463779	2	1	68	1	0	0	0	0	0	0	0	1	13914	1310	46	2		2	SCG2	2	224463779	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	110507354	224463779	18735594	13	4830											
INPP5D	3635	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	233925276	233925276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggacgggagcttcctcGtgcgtgccagcgagtccatc	7	7	14	13	4	0	0	0	0	0	0	4	3	2	2	3	2	4	2	3	2	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:233925276G>C	ENST00000359570.5	+	1	88	c.88G>C	c.(88-90)Gtg>Ctg	p.V30L	INPP5D_ENST00000538935.1_Missense_Mutation_p.V30L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	30	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)		GAGCTTCCTCGTGCGTGCCAG	0.642																																					.	NSCLC(82;1215 1426 16163 20348 41018)												.	.			0			.												40	45	44					2																	233925276		2088	4218	6306	SO:0001583	missense	3635	.			TTCCTCGTGCGTG	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.88G>C	2.37:g.233925276G>C	ENSP00000352575:p.Val30Leu		260	0	0		207	0.23	47	.	0		0	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	G	16.37	3.104493	0.56291	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	4.62	4.62	0.57501	SH2 motif (5);	0.063939	0.64402	D	0.000007	D	0.90386	0.6991	.	.	.	0.35616	D	0.809025	B;B	0.26147	0.117;0.143	B;B	0.31946	0.085;0.138	D	0.91519	0.5233	9	0.49607	T	0.09	.	17.5118	0.87762	0.0:0.0:1.0:0.0	.	30;30	Q92835-2;Q92835	.;SHIP1_HUMAN	L	30	ENSP00000409018:V30L;ENSP00000415253:V30L;ENSP00000352575:V30L;ENSP00000441010:V30L	ENSP00000352575:V30L	V	+	1	0	INPP5D	233633520	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.573000	0.46007	2.144000	0.66660	0.555000	0.69702	GTG			0.642	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001017915		C	233925276	G	C	233925276	3	2	68	1	0	0	0	0	1	0	0	0	7771	1145	40	5	90	5	INPP5D	2	233925276	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	9461497	233925276	9274097	14	4831											
SEMA5B	54437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	122645325	122645325	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagtagaaggggacctcGcccgggcgggagcagttgag	9	7	17	8	3	0	2	0	1	0	1	1	4	0	4	2	4	1	3	2	4	4	4	rs539416552		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr3:122645325G>A	ENST00000357599.3	-	9	1436	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Silent_p.G350G|SEMA5B_ENST00000451055.2_Silent_p.G404G	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	350	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGGGACCTCGCCCGGGCGGG	0.602													G|||	1	0.000199681	0	0	5008	,	,		18837	0		0	False		,,,				2504	0.001				p.G404G													SEMA5B_ENST00000451055,NS,malignant_melanoma,-2,3	SEMA5B_ENST00000451055	-2	3	0			c.C1212T												34	35	35					3																	122645325		2203	4300	6503	SO:0001819	synonymous_variant	54437	exon9			GACCTCGCCCGGG	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1050C>T	3.37:g.122645325G>A			133	0	0		125	0.27	34	NM_001256347	5	0.6	3	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	CCDS35491.1																																																																																					0.602	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000277165.1		NM_001031702		A	122645325	G	A	122645325	2	1	68	1	0	0	0	0	0	0	0	1	14061	1074	38	1		1	SEMA5B	3	122645325	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		122645325	75377105	15	4832											
GSX2	170825	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	54968011	54968021	+	Frame_Shift_Del	DEL	GCACTACGCGC	GCACTACGCGC	-																															aagtgcgtcgggagccaggtGcactacgcgcgctccgagga																								rs140212063|rs146677175		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	GCACTACGCGC	GCACTACGCGC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr4:54968011_54968021delGCACTACGCGC	ENST00000326902.2	+	2	1151_1161	c.837_847delGCACTACGCGC	c.(835-849)gtgcactacgcgcgcfs	p.HYAR280fs	FIP1L1_ENST00000507166.1_Intron|AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	280					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GGAGCCAGGTGCACTACGCGCGCTCCGAGGA	0.621																																					p.279_282del													.	.			0			c.836_846del																																									SO:0001589	frameshift_variant	170825	exon2			CCAGGTGCACTAC		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.837_847delGCACTACGCGC	4.37:g.54968011_54968021delGCACTACGCGC	ENSP00000319118:p.His280fs		202	0	0		105	0.29	30	NM_133267	0		0		Frame_Shift_Del	DEL	ENST00000326902.2	37	CCDS3494.1																																																																																					0.621	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250595.1		NM_133267		-	54968021	GCACTACGCGC	-	54968011	7	5	68	1	0	1	0	1	0	0	0	0	6865	1306	46	0	843	0	GSX2	4	54968011	Frame_Shift_Del	DEL	GCACTACGCGC	TCGA-2G-AALP-01A-12D-A42Y-10		54968011	136186265	16	4833											
CDK7	1022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	68530860	68530860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaagctggacttccttgggGagggacaggtgaggctctct	8	9	16	8	0	1	2	0	1	1	1	3	5	2	5	1	6	1	2	1	6	1	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:68530860G>A	ENST00000256443.3	+	1	161	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CDK7_ENST00000502604.1_5'Flank|CDK7_ENST00000514676.1_Missense_Mutation_p.E20K	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	20	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CTTCCTTGGGGAGGGACAGGT	0.652								Nucleotide excision repair (NER)																													p.E20K													.	.			0			c.G58A												24	22	23					5																	68530860		2202	4300	6502	SO:0001583	missense	1022	exon1			CTTGGGGAGGGAC		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"Cyclin-dependent kinases", "General transcription factor IIH complex subunits"	1778	protein-coding gene	gene with protein product		601955	"cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)", "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.58G>A	5.37:g.68530860G>A	ENSP00000256443:p.Glu20Lys		198	0	0		127	0.37	47	NM_001799	72	0.43	31	Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492928	0.96339	.	.	ENSG00000134058	ENST00000256443;ENST00000514676	T;T	0.65916	-0.18;-0.18	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);	0.107800	0.64402	D	0.000007	T	0.69360	0.3102	L	0.28556	0.865	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.79108	0.992;0.933	T	0.72782	-0.4189	10	0.87932	D	0	.	15.2917	0.73870	0.0:0.0:1.0:0.0	.	20;20	D6RIG9;P50613	.;CDK7_HUMAN	K	20	ENSP00000256443:E20K;ENSP00000422737:E20K	ENSP00000256443:E20K	E	+	1	0	CDK7	68566616	1.000000	0.71417	0.990000	0.47175	0.978000	0.69477	5.945000	0.70226	2.576000	0.86940	0.655000	0.94253	GAG			0.652	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216802.3		NM_001799		A	68530860	G	A	68530860	3	1	68	1	0	0	0	0	1	0	0	0	3151	1175	41	3	60	3	CDK7	5	68530860	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		68530860	112384400	17	4834											
BDP1	55814	broad.mit.edu	37	chr5	70806755	70806755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttgttgaagaaatggAggcagatttgaaagaaactg	14	10	14	3	0	0	5	0	2	0	3	0	6	0	6	0	3	1	4	0	3	4	3			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:70806755A>G	ENST00000358731.4	+	17	4099	c.3836A>G	c.(3835-3837)gAg>gGg	p.E1279G	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	1279	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)		GAAGAAATGGAGGCAGATTTG	0.378																																					p.E1279G													.	BDP1	204		0			c.A3836G												140	142	141					5																	70806755		1827	4083	5910	SO:0001583	missense	55814	exon17			AAATGGAGGCAGA	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.3836A>G	5.37:g.70806755A>G	ENSP00000351575:p.Glu1279Gly		143	0	0		109	0.04	4	NM_018429	0		0	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	6.844	0.525033	0.13066	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19938	2.11	3.57	1.05	0.20165	.	2.752640	0.01638	N	0.023907	T	0.20618	0.0496	L	0.51422	1.61	0.09310	N	0.999998	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.19451	-1.0305	10	0.44086	T	0.13	.	3.221	0.06715	0.6824:0.0:0.115:0.2027	.	1279;1279;1279	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	G	1279;859	ENSP00000351575:E1279G	ENSP00000351575:E1279G	E	+	2	0	BDP1	70842511	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.257000	0.18369	0.219000	0.20840	-0.908000	0.02827	GAG			0.378	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000374681.2		NM_018429		G	70806755	A	G	70806755	3	3	68	1	0	0	0	0	1	0	0	0	1395	304	11	4	3902	4	BDP1	5	70806755	Missense_Mutation	SNP	A	TCGA-2G-AALP-01A-12D-A42Y-10	2275895	70806755	110108505	18	4835											
TXNDC15	79770	mdanderson.org	37	chr5	134223555	134223555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacccaaggcgatcacatgGtgatgctgtctgtgattcct	9	11	10	11	1	2	2	1	2	1	0	3	3	3	2	2	2	1	1	2	2	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:134223555G>T	ENST00000358387.4	+	2	899	c.274G>T	c.(274-276)Gtg>Ttg	p.V92L	TXNDC15_ENST00000546290.1_Missense_Mutation_p.V69L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	92					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGATCACATGGTGATGCTGTC	0.612																																					p.V92L													.	.			0			c.G274T												104	92	96					5																	134223555		2203	4300	6503	SO:0001583	missense	79770	exon2			CACATGGTGATGC	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 14"	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.274G>T	5.37:g.134223555G>T	ENSP00000351157:p.Val92Leu		235	0	0		126	0.04	5	NM_024715	22	0	0	D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.98|10.98	1.505636|1.505636	0.26949|0.26949	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000506916;ENST00000508810;ENST00000546290|ENST00000508779	T;T|.	0.48522|.	0.81;0.83|.	5.61|5.61	3.48|3.48	0.39840|0.39840	.|.	0.451330|.	0.23962|.	N|.	0.042852|.	T|T	0.29126|0.29126	0.0724|0.0724	N|N	0.14661|0.14661	0.345|0.345	0.21915|0.21915	N|N	0.999472|0.999472	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.18587|0.18587	-1.0332|-1.0332	10|5	0.51188|.	T|.	0.08|.	-21.6946|-21.6946	12.0634|12.0634	0.53574|0.53574	0.0767:0.1253:0.798:0.0|0.0767:0.1253:0.798:0.0	.|.	92|.	Q96J42|.	TXD15_HUMAN|.	L|C	76;92;90;75;69|75	ENSP00000351157:V92L;ENSP00000443942:V69L|.	ENSP00000351157:V92L|.	V|W	+|+	1|3	0|0	TXNDC15|TXNDC15	134251454|134251454	1.000000|1.000000	0.71417|0.71417	0.249000|0.249000	0.24280|0.24280	0.629000|0.629000	0.37895|0.37895	2.470000|2.470000	0.45119|0.45119	1.355000|1.355000	0.45865|0.45865	0.585000|0.585000	0.79938|0.79938	GTG|TGG			0.612	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251160.1		NM_024715		T	134223555	G	T	134223555	3	4	68	1	0	0	0	0	1	0	0	0	16818	1261	44	3	280	3	TXNDC15	5	134223555	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	63416800	134223555	46691705	19	4836											
PCDHGB7	56099	mdanderson.org	37	chr5	140799086	140799086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcgtgttggtgggcGaccgtaacgacaacgcaccg	7	6	15	13	7	0	0	0	0	0	0	0	2	0	0	3	2	3	3	3	2	2	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:140799086G>T	ENST00000398594.2	+	1	1660	c.1660G>T	c.(1660-1662)Gac>Tac	p.D554Y	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	554	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGTGGGCGACCGTAACGA	0.716																																					p.D554Y													.	.			0			c.G1660T												28	35	33					5																	140799086		2100	4217	6317	SO:0001583	missense	56099	exon1			GTGGGCGACCGTA	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1660G>T	5.37:g.140799086G>T	ENSP00000381594:p.Asp554Tyr		75	0	0		53	0.06	3	NM_032101	2	0	0	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	19.00	3.741501	0.69304	.	.	ENSG00000254122	ENST00000398594	T	0.67865	-0.29	5.38	5.38	0.77491	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34555	U	0.003873	D	0.90769	0.7102	H	0.99752	4.75	0.35275	D	0.780799	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97075	0.9780	10	0.87932	D	0	.	18.7253	0.91711	0.0:0.0:1.0:0.0	.	554;554	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	Y	554	ENSP00000381594:D554Y	ENSP00000381594:D554Y	D	+	1	0	PCDHGB7	140779270	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.511000	0.81718	2.513000	0.84729	0.491000	0.48974	GAC			0.716	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376973.1		NM_018927		T	140799086	G	T	140799086	3	4	68	1	0	0	0	0	1	0	0	0	11585	1058	37	1	1662	1	PCDHGB7	5	140799086	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	6575531	140799086	40116174	20	4837											
ARAP3	64411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	141059697	141059697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacactcctggtcccccgagGgctgggctcagcccaggtct	5	7	13	16	1	2	0	1	0	1	0	4	2	4	0	4	4	1	2	4	4	0	0	rs200318347	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:141059697G>A	ENST00000239440.4	-	2	422	c.357C>T	c.(355-357)gcC>gcT	p.A119A	ARAP3_ENST00000508305.1_Silent_p.A41A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	119	Pro-rich.				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						GTCCCCCGAGGGCTGGGCTCA	0.662																																					p.A119A													.	.			0			c.C357T												60	78	72					5																	141059697		2201	4300	6501	SO:0001819	synonymous_variant	64411	exon2			CCCGAGGGCTGGG	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.357C>T	5.37:g.141059697G>A			56	0	0		39	0.46	18	NM_022481	15	0.53	8	B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	CCDS4266.1																																																																																			0.005		0.662	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251805.1		NM_022481		A	141059697	G	A	141059697	2	1	68	1	0	0	0	0	0	0	0	1	840	1219	43	3		3	ARAP3	5	141059697	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	260611	141059697	39855563	21	4838											
CDX1	1044	mdanderson.org	37	chr5	149546520	149546520	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcctcggcctgggcccGcaagcctacggccccccggc	4	3	13	21	4	0	0	0	0	0	0	1	0	0	0	8	4	3	1	8	4	2	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:149546520G>A	ENST00000231656.8	+	1	163	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	27					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTGGGCCCGCAAGCCTAcg	0.756																																					p.P27P													.	.			0			c.G81A												3	4	4					5																	149546520		1264	2417	3681	SO:0001819	synonymous_variant	1044	exon1			GGGCCCGCAAGCC	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"Homeoboxes / ANTP class : HOXL subclass"	1805	protein-coding gene	gene with protein product		600746	"caudal type homeo box transcription factor 1"			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.81G>A	5.37:g.149546520G>A			17	0	0		19	0.16	3	NM_001804	8	0	0	Q4VAU4|Q9NYK8	Silent	SNP	ENST00000231656.8	37	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.381776	0.01204	.	.	ENSG00000113722	ENST00000394298	.	.	.	3.01	-6.03	0.02185	.	.	.	.	.	T	0.37046	0.0989	.	.	.	0.32918	D	0.515489	.	.	.	.	.	.	T	0.45571	-0.9252	5	0.87932	D	0	-7.8821	0.082	0.00032	0.3332:0.2004:0.195:0.2714	.	.	.	.	T	36	.	ENSP00000377835:A36T	A	+	1	0	CDX1	149526713	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-2.633000	0.00869	-3.023000	0.00269	-0.643000	0.03959	GCA			0.756	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252328.7		NM_001804		A	149546520	G	A	149546520	2	1	68	1	0	0	0	0	0	0	0	1	3184	1074	38	1		1	CDX1	5	149546520	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	8486823	149546520	31368740	22	4839											
RBM22	55696	mdanderson.org	37	chr5	150075147	150075147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcctctggtgggtccaGccgaggcattgttgaagccc	6	12	12	11	1	1	1	0	1	1	0	3	2	3	1	4	3	2	2	4	3	2	4			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:150075147G>T	ENST00000199814.4	-	7	788	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	RBM22_ENST00000447771.2_Missense_Mutation_p.L174M|RBM22_ENST00000540000.1_Missense_Mutation_p.L174M	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	223					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGGGTCCAGCCGAGGCATT	0.433																																					p.L223M													.	.			0			c.C667A												102	100	100					5																	150075147		2203	4300	6503	SO:0001583	missense	55696	exon7			GGTCCAGCCGAGG	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	25503	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 47"	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.667C>A	5.37:g.150075147G>T	ENSP00000199814:p.Leu223Met		138	0	0		89	0.04	4	NM_018047	49	0	0	A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413342	0.62511	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	.	.	.	5.83	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);	0.145290	0.47852	D	0.000219	T	0.65964	0.2742	M	0.80616	2.505	0.80722	D	1	P	0.51653	0.947	P	0.46796	0.527	T	0.71397	-0.4605	9	0.51188	T	0.08	-13.6938	14.936	0.70954	0.0686:0.0:0.9314:0.0	.	223	Q9NW64	RBM22_HUMAN	M	223;174;174	.	ENSP00000199814:L223M	L	-	1	2	RBM22	150055340	1.000000	0.71417	0.997000	0.53966	0.326000	0.28443	6.675000	0.74493	1.470000	0.48102	0.655000	0.94253	CTG			0.433	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374431.2		NM_018047		T	150075147	G	T	150075147	3	4	68	1	0	0	0	0	1	0	0	0	13145	962	34	2	615	2	RBM22	5	150075147	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	528627	150075147	30840113	23	4840											
EBF1	1879	mdanderson.org	37	chr5	158524093	158524093	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttggatttccgcagattGgaaggcggctgcttctcaaa	10	11	12	8	2	1	1	1	0	1	1	3	3	2	3	1	4	1	4	1	4	3	4			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:158524093G>T	ENST00000313708.6	-	2	462	c.180C>A	c.(178-180)tcC>tcA	p.S60S	EBF1_ENST00000380654.4_Silent_p.S60S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.S60S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	60					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)			TCCGCAGATTGGAAGGCGGCT	0.627			T	HMGA2	lipoma																																p.S60S				Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.			0			c.C180A												46	46	46					5																	158524093		2203	4300	6503	SO:0001819	synonymous_variant	1879	exon2			CAGATTGGAAGGC	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.180C>A	5.37:g.158524093G>T			71	0	0		50	0.06	3	NM_024007	1	0	0	Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																					0.627	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000252649.1		NM_024007		T	158524093	G	T	158524093	2	4	68	1	0	0	0	0	0	0	0	1	4885	1335	47	3		3	EBF1	5	158524093	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	8448946	158524093	22391167	24	4841											
ZFP2	80108	broad.mit.edu	37	chr5	178358837	178358837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagcatgaatcttactGtccatcaacgaactcacacc	13	9	6	13	1	4	2	3	1	1	1	5	3	5	2	2	0	4	1	2	0	4	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:178358837G>T	ENST00000361362.2	+	5	1053	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	ZFP2_ENST00000523286.1_Missense_Mutation_p.V175F|ZFP2_ENST00000503510.2_Missense_Mutation_p.V175F|ZFP2_ENST00000520301.1_Missense_Mutation_p.V175F	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	175					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)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAATCTTACTGTCCATCAACG	0.403																																					p.V175F													.	ZFP2	70		0			c.G523T												53	52	53					5																	178358837		2203	4300	6503	SO:0001583	missense	80108	exon5			CTTACTGTCCATC	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.523G>T	5.37:g.178358837G>T	ENSP00000354453:p.Val175Phe		82	0	0		61	0.05	3	NM_030613	0		0	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	9.114	1.007378	0.19199	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	4.7	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29760	N	0.011266	T	0.12263	0.0298	L	0.39633	1.23	0.09310	N	1	D	0.69078	0.997	D	0.64410	0.925	T	0.11012	-1.0605	10	0.45353	T	0.12	-7.566	1.4964	0.02467	0.1908:0.1654:0.4729:0.1709	.	175	Q6ZN57	ZFP2_HUMAN	F	175	ENSP00000354453:V175F;ENSP00000430980:V175F;ENSP00000430531:V175F;ENSP00000438114:V175F	ENSP00000354453:V175F	V	+	1	0	ZFP2	178291443	0.000000	0.05858	1.000000	0.80357	0.308000	0.27856	-1.365000	0.02587	1.200000	0.43188	-0.198000	0.12761	GTC			0.403	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253470.2		NM_030613		T	178358837	G	T	178358837	3	4	68	1	0	0	0	0	1	0	0	0	17664	1377	48	3	525	3	ZFP2	5	178358837	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	19834744	178358837	2556423	25	4842											
FTSJD2	23070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	37446211	37446211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgaagatcatcaagggctCcagtggcaccccaaagctca	13	6	10	12	0	3	2	3	1	0	1	4	3	4	2	3	2	1	3	3	2	3	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr6:37446211C>T	ENST00000373451.4	+	22	2344	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	727	Interaction with POLR2A.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										ATCAAGGGCTCCAGTGGCACC	0.517																																					p.S727F													.	.			0			c.C2180T												218	207	211					6																	37446211		2203	4300	6503	SO:0001583	missense	23070	exon22			AGGGCTCCAGTGG	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.2180C>T	6.37:g.37446211C>T	ENSP00000362550:p.Ser727Phe		159	0	0		118	0.33	39	NM_015050	78	0.28	22	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.945188|4.945188	0.92593|0.92593	.|.	.|.	ENSG00000137200|ENSG00000137200	ENST00000457419|ENST00000373451;ENST00000373420;ENST00000452299	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.052120	.|0.85682	.|D	.|0.000000	T|T	0.45357|0.45357	0.1338|0.1338	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|P	.|0.41265	.|0.744	.|B	.|0.30943	.|0.122	T|T	0.59847|0.59847	-0.7377|-0.7377	5|9	.|0.72032	.|D	.|0.01	-20.9789|-20.9789	18.0044|18.0044	0.89205|0.89205	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|727	.|Q8N1G2	.|MTR1_HUMAN	S|F	80|727;134;71	.|.	.|ENSP00000362519:S134F	P|S	+|+	1|2	0|0	FTSJD2|FTSJD2	37554189|37554189	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	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CCA|TCC			0.517	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040408.1		NM_015050		T	37446211	C	T	37446211	3	4	68	1	0	0	0	0	1	0	0	0	6104	855	30	3	2262	3	FTSJD2	6	37446211	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10		37446211	133668856	26	4843											
MDN1	23195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	90486377	90486377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccattttcagtttgcttGtatgctcagaaagcattgct	8	16	8	9	0	2	1	2	0	0	1	2	1	2	1	1	0	5	6	1	0	2	6			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr6:90486377G>C	ENST00000369393.3	-	12	1878	c.1763C>G	c.(1762-1764)aCa>aGa	p.T588R	MDN1_ENST00000428876.1_Missense_Mutation_p.T588R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	588					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)		CAGTTTGCTTGTATGCTCAGA	0.328																																					p.T588R													.	.			0			c.C1763G												138	129	132					6																	90486377		2202	4299	6501	SO:0001583	missense	23195	exon12			TTGCTTGTATGCT	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.1763C>G	6.37:g.90486377G>C	ENSP00000358400:p.Thr588Arg		80	0	0		94	0.32	30	NM_014611	2	0	0	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	7.918	0.738055	0.15574	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.39997	1.05;1.05;1.05	5.07	3.09	0.35607	ATPase, AAA+ type, core (1);	0.802027	0.11468	N	0.561035	T	0.14442	0.0349	L	0.41236	1.265	0.09310	N	1	B;B	0.22746	0.074;0.003	B;B	0.25759	0.063;0.008	T	0.24083	-1.0170	10	0.24483	T	0.36	.	7.4406	0.27181	0.0:0.3327:0.3976:0.2697	.	515;588	Q5T795;Q9NU22	.;MDN1_HUMAN	R	588;588;515	ENSP00000358400:T588R;ENSP00000413970:T588R;ENSP00000409664:T515R	ENSP00000358400:T588R	T	-	2	0	MDN1	90543098	0.002000	0.14202	0.799000	0.32177	0.944000	0.59088	0.269000	0.18589	1.073000	0.40885	0.563000	0.77884	ACA			0.328	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041514.2				C	90486377	G	C	90486377	3	2	68	1	0	0	0	0	1	0	0	0	9431	1377	48	5	15391	5	MDN1	6	90486377	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	53040166	90486377	80628690	27	4844											
TIAM2	26230	mdanderson.org	37	chr6	155450817	155450817	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctccaccccaccgggcGaagaccgcaagagcccccga	9	3	10	19	4	0	2	0	0	0	2	1	4	1	2	8	1	2	1	8	1	2	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr6:155450817G>T	ENST00000461783.3	+	6	1733	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	TIAM2_ENST00000456144.1_Nonsense_Mutation_p.E154*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.E154*|TIAM2_ENST00000360366.4_Nonsense_Mutation_p.E154*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.E154*|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	154					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)		CCCACCGGGCGAAGACCGCAA	0.582																																					p.E154X													.	.			0			c.G460T												54	53	53					6																	155450817		2203	4300	6503	SO:0001587	stop_gained	26230	exon3			CCGGGCGAAGACC		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.460G>T	6.37:g.155450817G>T	ENSP00000437188:p.Glu154*		73	0	0		42	0.07	3	NM_012454	0		0	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Nonsense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	44	11.260218	0.99538	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	.	.	.	5.1	2.18	0.27775	.	0.247012	0.39020	N	0.001488	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.3189	0.43753	0.0:0.2767:0.5798:0.1435	.	.	.	.	X	154;400;154;154;154;154;154;154	.	ENSP00000327315:E154X	E	+	1	0	TIAM2	155492509	0.992000	0.36948	0.009000	0.14445	0.014000	0.08584	4.442000	0.59988	0.202000	0.20498	-0.521000	0.04368	GAA			0.582	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding		OTTHUMT00000387980.2		NM_012454		T	155450817	G	T	155450817	4	4	68	1	0	0	0	0	0	1	0	0	15914	1059	37	1	462	1	TIAM2	6	155450817	Nonsense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	64964440	155450817	15664250	28	4845											
GRB10	2887	broad.mit.edu;bcgsc.ca	37	chr7	50680448	50680454	+	Frame_Shift_Del	DEL	CTGAACG	CTGAACG	-																															tgtcacataccttgaggagtCtgaacgctgtcatccagcac																								rs568610330		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	CTGAACG	CTGAACG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:50680448_50680454delCTGAACG	ENST00000401949.1	-	13	1647_1653	c.1178_1184delCGTTCAG	c.(1177-1185)gcgttcagafs	p.AFR393fs	GRB10_ENST00000439599.1_Frame_Shift_Del_p.AFR387fs|GRB10_ENST00000398812.2_Frame_Shift_Del_p.AFR393fs|GRB10_ENST00000407526.1_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000357271.5_Frame_Shift_Del_p.AFR347fs|GRB10_ENST00000335866.3_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000398810.2_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000402497.1_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000406641.1_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000403097.1_Frame_Shift_Del_p.AFR387fs|GRB10_ENST00000402578.1_Frame_Shift_Del_p.AFR335fs			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	393	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					CTTGAGGAGTCTGAACGCTGTCATCCA	0.473									Russell-Silver syndrome																												p.393_395del													.	GRB10	155		0			c.1178_1184del																																									SO:0001589	frameshift_variant	2887	exon10	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	AGGAGTCTGAACG		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.1178_1184delCGTTCAG	7.37:g.50680448_50680454delCTGAACG	ENSP00000385770:p.Ala393fs		104	0	0		99	0.09	9	NM_005311	40	0	0	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Frame_Shift_Del	DEL	ENST00000401949.1	37	CCDS43582.1																																																																																					0.473	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319157.1				-	50680454	CTGAACG	-	50680448	7	5	68	1	0	1	0	1	0	0	0	0	6771	913	32	0	628	0	GRB10	7	50680448	Frame_Shift_Del	DEL	CTGAACG	TCGA-2G-AALP-01A-12D-A42Y-10		50680448	108458215	29	4846											
FGL2	10875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	76825646	76825646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttagcctctttgaaggAggacttgtagccaccagggt	9	11	11	10	0	2	1	0	1	2	0	2	3	2	3	3	3	2	1	3	3	3	4			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:76825646A>G	ENST00000248598.5	-	2	1302	c.1270T>C	c.(1270-1272)Tcc>Ccc	p.S424P	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	424	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTTTGAAGGAGGACTTGTAG	0.438																																					p.S424P													.	.			0			c.T1270C												65	58	61					7																	76825646		2203	4300	6503	SO:0001583	missense	10875	exon2			TGAAGGAGGACTT	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.1270T>C	7.37:g.76825646A>G	ENSP00000248598:p.Ser424Pro		108	0	0		115	0.28	32	NM_006682	17	0	0		Missense_Mutation	SNP	ENST00000248598.5	37	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.507871	0.44558	.	.	ENSG00000127951	ENST00000248598	D	0.81579	-1.51	5.87	4.65	0.58169	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.142779	0.64402	D	0.000004	T	0.79161	0.4399	M	0.79258	2.445	0.47065	D	0.999303	B	0.26400	0.148	B	0.34590	0.186	T	0.79448	-0.1799	10	0.72032	D	0.01	.	3.4326	0.07434	0.6491:0.1417:0.0732:0.136	.	424	Q14314	FGL2_HUMAN	P	424	ENSP00000248598:S424P	ENSP00000248598:S424P	S	-	1	0	FGL2	76663582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.033000	0.30191	2.371000	0.80710	0.533000	0.62120	TCC			0.438	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253176.1		NM_006682		G	76825646	A	G	76825646	3	3	68	1	0	0	0	0	1	0	0	0	5886	304	11	4	53	4	FGL2	7	76825646	Missense_Mutation	SNP	A	TCGA-2G-AALP-01A-12D-A42Y-10	26145198	76825646	82313017	30	4847											
PPP1R9A	55607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	94539755	94539755	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttctggaaaaaacagaTggctcagttgttaagttgga	14	12	11	4	0	2	1	1	0	1	1	2	4	2	3	0	3	1	4	0	3	5	4			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:94539755T>C	ENST00000433881.1	+	2	862	c.330T>C	c.(328-330)gaT>gaC	p.D110D	PPP1R9A_ENST00000456331.2_Silent_p.D110D|PPP1R9A_ENST00000433360.1_Silent_p.D110D|PPP1R9A_ENST00000289495.5_Silent_p.D110D|PPP1R9A_ENST00000340694.4_Silent_p.D110D|PPP1R9A_ENST00000424654.1_Silent_p.D110D			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	110	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAACAGATGGCTCAGTTG	0.423										HNSCC(28;0.073)																											p.D110D													.	.			0			c.T330C												77	77	77					7																	94539755		2203	4300	6503	SO:0001819	synonymous_variant	55607	exon2			AACAGATGGCTCA	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.330T>C	7.37:g.94539755T>C			219	0	0		207	0.48	100	NM_017650	1	1	1	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	CCDS34683.1																																																																																					0.423	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340662.1		NM_001166160		C	94539755	T	C	94539755	2	2	68	1	0	0	0	0	0	0	0	1	12398	1461	51	4		4	PPP1R9A	7	94539755	Silent	SNP	T	TCGA-2G-AALP-01A-12D-A42Y-10	17714109	94539755	64598908	31	4848											
FEZF1	389549	broad.mit.edu;ucsc.edu	37	chr7	121944000	121944000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcatgggccgtcacctcgGttcaggtagcacaaggcgcc	7	7	14	13	3	2	0	2	0	0	0	3	0	2	0	3	5	1	4	3	5	2	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:121944000G>T	ENST00000442488.2	-	1	559	c.492C>A	c.(490-492)aaC>aaA	p.N164K	FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.N164K|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Intron|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	164					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGTCACCTCGGTTCAGGTAGC	0.632																																					p.N164K													.	FEZF1	60		0			c.C492A												14	14	14					7																	121944000		2203	4299	6502	SO:0001583	missense	389549	exon1			ACCTCGGTTCAGG	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.492C>A	7.37:g.121944000G>T	ENSP00000411145:p.Asn164Lys		74	0.0135135135	1		86	0.14	12	NM_001024613	0		0	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560893	0.27827	.	.	ENSG00000128610	ENST00000442488;ENST00000331178	T;T	0.10192	2.9;2.92	4.65	0.062	0.14343	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	L	0.36672	1.1	0.39915	D	0.974074	D	0.64830	0.994	P	0.50314	0.637	T	0.04128	-1.0975	10	0.52906	T	0.07	-23.7031	9.9796	0.41806	0.113:0.0:0.7612:0.1258	.	164	A0PJY2	FEZF1_HUMAN	K	164	ENSP00000411145:N164K;ENSP00000332777:N164K	ENSP00000332777:N164K	N	-	3	2	FEZF1	121731236	1.000000	0.71417	0.957000	0.39632	0.020000	0.10135	1.519000	0.35888	-0.034000	0.13713	0.555000	0.69702	AAC			0.632	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347410.1		NM_001024613		T	121944000	G	T	121944000	3	4	68	1	0	0	0	0	1	0	0	0	5838	1252	44	3	951	3	FEZF1	7	121944000	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	27404245	121944000	37194663	32	4849											
LRGUK	136332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr7	133812184	133812184	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgagaggcttgggcAgatcccgaactggagcccga	8	7	13	13	2	1	2	0	1	1	2	3	6	2	3	3	3	2	2	3	3	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:133812184A>T	ENST00000285928.2	+	1	133	c.64A>T	c.(64-66)Aga>Tga	p.R22*	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	22						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						AGGCTTGGGCAGATCCCGAAC	0.582																																					p.R22X													LRGUK,NS,carcinoma,-1,1	LRGUK	-1	1	0			c.A64T												90	91	91					7																	133812184		2203	4300	6503	SO:0001587	stop_gained	136332	exon1			TTGGGCAGATCCC	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.64A>T	7.37:g.133812184A>T	ENSP00000285928:p.Arg22*		131	0	0		199	0.15	30	NM_144648	2	0	0	Q2M3I1	Nonsense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125659	0.77436	.	.	ENSG00000155530	ENST00000285928	.	.	.	3.56	-1.5	0.08691	.	1.019440	0.07830	N	0.961195	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	3.8645	0.09010	0.4196:0.2094:0.371:0.0	.	.	.	.	X	22	.	ENSP00000285928:R22X	R	+	1	2	LRGUK	133462724	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.960000	0.03849	-0.267000	0.09325	-0.256000	0.11100	AGA			0.582	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339442.1		NM_144648		T	133812184	A	T	133812184	4	4	68	1	0	0	0	0	0	1	0	0	8959	180	7	5	66	5	LRGUK	7	133812184	Nonsense_Mutation	SNP	A	TCGA-2G-AALP-01A-12D-A42Y-10	11868184	133812184	25326479	33	4850											
ZNF398	57541	broad.mit.edu	37	chr7	148876752	148876752	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatggaggctgtgggggTgatagtgacccatcaggtca	10	8	15	8	0	2	2	2	2	0	0	2	3	2	3	1	5	0	1	1	5	2	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:148876752T>G	ENST00000475153.1	+	6	2055	c.1788T>G	c.(1786-1788)ggT>ggG	p.G596G	ZNF398_ENST00000420008.2_Silent_p.G425G|ZNF398_ENST00000540950.1_Silent_p.G601G|ZNF398_ENST00000426851.2_Silent_p.G425G|ZNF398_ENST00000483892.1_Silent_p.G425G|ZNF398_ENST00000335901.4_Silent_p.G425G|ZNF398_ENST00000491174.1_Silent_p.G425G			Q8TD17	ZN398_HUMAN	zinc finger protein 398	596					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCTGTGGGGGTGATAGTGACC	0.587																																					p.G596G													.	ZNF398	54		0			c.T1788G												60	62	62					7																	148876752		2203	4300	6503	SO:0001819	synonymous_variant	0	exon6			TGGGGGTGATAGT	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1788T>G	7.37:g.148876752T>G			59	0.1525423729	9		109	0.13	14	NM_170686	88	0.01	1	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	CCDS5894.1																																																																																					0.587	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352722.2				G	148876752	T	G	148876752	2	3	68	1	0	0	0	0	0	0	0	1	17908	1683	59	4		4	ZNF398	7	148876752	Silent	SNP	T	TCGA-2G-AALP-01A-12D-A42Y-10	15064568	148876752	10261911	34	4851											
ZBTB10	65986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	81399795	81399795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagaagctccaatgctccttCcagacctcctggctcaagga	10	8	8	15	0	1	2	1	0	0	2	5	3	5	3	5	2	2	3	5	2	3	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr8:81399795C>G	ENST00000430430.1	+	2	1529	c.750C>G	c.(748-750)ttC>ttG	p.F250L	ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Missense_Mutation_p.F250L|ZBTB10_ENST00000426744.2_Missense_Mutation_p.F250L|Y_RNA_ENST00000605948.1_RNA	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AATGCTCCTTCCAGACCTCCT	0.587																																					p.F250L													.	.			0			c.C750G												37	40	39					8																	81399795		2009	4166	6175	SO:0001583	missense	65986	exon1			CTCCTTCCAGACC	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.750C>G	8.37:g.81399795C>G	ENSP00000387462:p.Phe250Leu		81	0	0		89	0.22	20	NM_023929	10	0.2	2	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759578	0.49468	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.25912	1.79;1.79;1.77	4.94	3.15	0.36227	.	0.000000	0.64402	D	0.000001	T	0.18383	0.0441	L	0.27053	0.805	0.46725	D	0.999177	B;B;B	0.24186	0.06;0.06;0.099	B;B;B	0.22753	0.011;0.018;0.041	T	0.04607	-1.0939	10	0.87932	D	0	.	10.9194	0.47156	0.0:0.8476:0.0:0.1524	.	106;250;250	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	L	250;250;250;78	ENSP00000387462:F250L;ENSP00000412036:F250L;ENSP00000416134:F250L	ENSP00000416134:F250L	F	+	3	2	ZBTB10	81562350	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	1.663000	0.37429	0.498000	0.27948	-0.142000	0.14014	TTC			0.587	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000338055.2		NM_023929		G	81399795	C	G	81399795	3	3	68	1	0	0	0	0	1	0	0	0	17546	854	30	5	752	5	ZBTB10	8	81399795	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10		81399795	64964227	35	4852											
ZNF706	51123	mdanderson.org	37	chr8	102213875	102213875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattaaggcagctttggcaGcagccttttggtcatgtcct	8	14	10	9	0	1	0	1	0	0	0	2	0	2	0	2	3	3	4	2	3	2	5			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr8:102213875G>A	ENST00000520347.1	-	2	3051	c.95C>T	c.(94-96)gCt>gTt	p.A32V	ZNF706_ENST00000519882.1_Missense_Mutation_p.A32V|ZNF706_ENST00000311212.4_Missense_Mutation_p.A32V|ZNF706_ENST00000518336.1_Missense_Mutation_p.A32V|ZNF706_ENST00000520984.1_Missense_Mutation_p.A32V|ZNF706_ENST00000519744.1_Missense_Mutation_p.A32V|ZNF706_ENST00000517844.1_Missense_Mutation_p.A32V|ZNF706_ENST00000521272.1_Missense_Mutation_p.A32V			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	32							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			AGCTTTGGCAGCAGCCTTTTG	0.433																																					p.A32V													.	.			0			c.C95T												148	136	140					8																	102213875		2203	4299	6502	SO:0001583	missense	51123	exon3			TTGGCAGCAGCCT	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.95C>T	8.37:g.102213875G>A	ENSP00000430823:p.Ala32Val		84	0	0		78	0.05	4	NM_001042510	203	0	0	A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236463	0.79800	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000519103;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	.	.	.	0.80722	D	1	D	0.62365	0.991	D	0.63793	0.918	T	0.79130	-0.1930	8	0.48119	T	0.1	.	18.6414	0.91397	0.0:0.0:1.0:0.0	.	32	Q9Y5V0	ZN706_HUMAN	V	32;32;32;32;4;32;32;32;32;32	.	ENSP00000311768:A32V	A	-	2	0	ZNF706	102283051	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.399000	0.81585	0.655000	0.94253	GCT			0.433	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380477.1		NM_016096		A	102213875	G	A	102213875	3	1	68	1	0	0	0	0	1	0	0	0	18133	971	34	2	143	2	ZNF706	8	102213875	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	20814080	102213875	44150147	36	4853											
COL14A1	7373	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr8	121215961	121215961	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaaggggtgaaaaacgcGgatgtgaatgagctgcagga	13	7	17	4	2	0	3	0	3	0	0	0	5	0	5	0	4	3	3	0	4	4	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr8:121215961G>T	ENST00000297848.3	+	9	1161	c.891G>T	c.(889-891)gcG>gcT	p.A297A	COL14A1_ENST00000537875.1_Silent_p.A297A|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.A202A|COL14A1_ENST00000309791.4_Silent_p.A297A	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)			TGAAAAACGCGGATGTGAATG	0.498																																					p.A297A													.	.			0			c.G891T												118	103	108					8																	121215961		2203	4300	6503	SO:0001819	synonymous_variant	7373	exon9			AAACGCGGATGTG		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.891G>T	8.37:g.121215961G>T			70	0	0		68	0.06	4	NM_021110	0		0		Silent	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	1.928	-0.446614	0.04572	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1706	0.01825	0.4154:0.1435:0.1628:0.2783	.	.	.	.	X	54	.	.	G	+	1	0	COL14A1	121285142	0.000000	0.05858	0.062000	0.19696	0.355000	0.29361	-4.712000	0.00195	-2.776000	0.00362	-0.258000	0.10820	GGA			0.498	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313657.2		NM_021110		T	121215961	G	T	121215961	2	4	68	1	0	0	0	0	0	0	0	1	3673	1103	39	1		1	COL14A1	8	121215961	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	19002086	121215961	25148061	37	4854											
C9orf3	84909	broad.mit.edu	37	chr9	97535328	97535328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccataaacaacagggcccTttttccatgccaggagccac	11	8	7	15	0	0	0	0	0	0	0	2	1	2	1	5	2	4	0	5	2	3	3			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr9:97535328T>C	ENST00000375315.2	+	2	842	c.842T>C	c.(841-843)cTt>cCt	p.L281P	C9orf3_ENST00000297979.5_Missense_Mutation_p.L281P|C9orf3_ENST00000277198.2_Missense_Mutation_p.L281P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	281					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AACAGGGCCCTTTTTCCATGC	0.463																																					p.L281P													.	C9orf3	100		0			c.T842C												125	120	122					9																	97535328		2203	4300	6503	SO:0001583	missense	84909	exon3			GGGCCCTTTTTCC	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.842T>C	9.37:g.97535328T>C	ENSP00000364464:p.Leu281Pro		176	0	0		101	0.03	3	NM_001193331	3	0	0	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889215	0.72524	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.09	5.09	0.68999	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.19805	0.0476	M	0.68952	2.095	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;0.999;0.999	T	0.00214	-1.1912	10	0.87932	D	0	-12.3101	15.0328	0.71720	0.0:0.0:0.0:1.0	.	281;281;281;281	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	P	281;281;281;104;63	ENSP00000277198:L281P;ENSP00000297979:L281P;ENSP00000364464:L281P;ENSP00000402171:L104P;ENSP00000401854:L63P	ENSP00000277198:L281P	L	+	2	0	C9orf3	96575149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.406000	0.80017	2.136000	0.66102	0.477000	0.44152	CTT			0.463	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_032823		C	97535328	T	C	97535328	3	2	68	1	0	0	0	0	1	0	0	0	2479	1609	56	4	848	4	C9orf3	9	97535328	Missense_Mutation	SNP	T	TCGA-2G-AALP-01A-12D-A42Y-10		97535328	43678103	38	4855											
POMT1	10585	mdanderson.org	37	chr9	134382868	134382868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccacttttctcattgtGccgccatgggagctgctctg	5	13	10	13	1	2	0	1	0	2	0	4	1	3	1	3	1	4	3	3	1	0	3			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr9:134382868G>A	ENST00000372228.3	+	5	573	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	POMT1_ENST00000341012.7_Missense_Mutation_p.A78T|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.A102T|POMT1_ENST00000404875.2_Missense_Mutation_p.A15T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000402686.3_Missense_Mutation_p.A132T|POMT1_ENST00000423007.1_Missense_Mutation_p.A132T	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	132					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTCTCATTGTGCCGCCATGGG	0.607																																					p.A132T													.	.			0			c.G394A												176	140	152					9																	134382868		2203	4300	6503	SO:0001583	missense	10585	exon5			CATTGTGCCGCCA	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.394G>A	9.37:g.134382868G>A	ENSP00000361302:p.Ala132Thr		63	0	0		38	0.08	3	NM_001136113	8	0	0	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280135	0.23392	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372221;ENST00000372228;ENST00000402686;ENST00000354713;ENST00000418774;ENST00000415075;ENST00000448212;ENST00000430619	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	5.07	2.17	0.27698	Glycosyl transferase, family 39 (1);	0.107189	0.64402	N	0.000004	T	0.68412	0.2998	N	0.25094	0.71	0.80722	D	1	B;B;B;B	0.13594	0.001;0.001;0.008;0.001	B;B;B;B	0.20955	0.009;0.007;0.032;0.005	T	0.55717	-0.8097	10	0.02654	T	1	-30.8073	6.5765	0.22569	0.0725:0.1289:0.665:0.1336	.	102;132;132;132	B4DTW4;B4DWD8;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	T	132;15;78;15;15;132;132;102;132;15;78;15	ENSP00000404119:A132T;ENSP00000384531:A15T;ENSP00000343034:A78T;ENSP00000395060:A15T;ENSP00000361302:A132T;ENSP00000385797:A132T;ENSP00000346748:A102T;ENSP00000390737:A132T;ENSP00000405149:A15T;ENSP00000403736:A78T;ENSP00000402083:A15T	ENSP00000343034:A78T	A	+	1	0	POMT1	133372689	0.073000	0.21202	0.083000	0.20561	0.380000	0.30137	0.292000	0.19011	0.231000	0.21079	0.563000	0.77884	GCC			0.607	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054737.1		NM_007171		A	134382868	G	A	134382868	3	1	68	1	0	0	0	0	1	0	0	0	12262	1319	46	2	408	2	POMT1	9	134382868	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	36847540	134382868	6830563	39	4856											
SNAPC4	6621	hgsc.bcm.edu;mdanderson.org	37	chr9	139277986	139277986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcctgctctggctcGtcctcctcgctgctgctgct	0	12	11	18	3	1	0	0	0	1	0	5	0	3	0	4	1	5	6	4	1	0	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr9:139277986G>T	ENST00000298532.2	-	15	2003	c.1635C>A	c.(1633-1635)gaC>gaA	p.D545E		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)		GCTCTGGCTCGTCCTCCTCgc	0.677																																					p.D545E													.	.			0			c.C1635A												18	14	16					9																	139277986		2181	4278	6459	SO:0001583	missense	6621	exon15			TGGCTCGTCCTCC	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.1635C>A	9.37:g.139277986G>T	ENSP00000298532:p.Asp545Glu		81	0	0		60	0.07	4	NM_003086	25	0	0		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074089	0.01918	.	.	ENSG00000165684	ENST00000298532	T	0.21031	2.03	4.67	-9.34	0.00636	.	7.091190	0.00166	N	0.000000	T	0.04861	0.0131	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23440	-1.0188	10	0.02654	T	1	.	2.4281	0.04464	0.1996:0.4204:0.2033:0.1767	.	545	Q5SXM2	SNPC4_HUMAN	E	545	ENSP00000298532:D545E	ENSP00000298532:D545E	D	-	3	2	SNAPC4	138397807	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-1.369000	0.02578	-2.969000	0.00287	-1.010000	0.02471	GAC			0.677	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055071.1		NM_003086		T	139277986	G	T	139277986	3	4	68	1	0	0	0	0	1	0	0	0	14860	1136	40	1	2806	1	SNAPC4	9	139277986	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	4895118	139277986	1935445	40	4857											
ANAPC2	29882	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	140076172	140076172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccgggacccagtcctctgGctcgcctgagtcatcctcac	5	9	10	17	2	3	1	2	1	1	0	7	2	6	2	5	2	0	1	5	2	0	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr9:140076172G>A	ENST00000323927.2	-	7	1433	c.1429C>T	c.(1429-1431)Cca>Tca	p.P477S		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	477					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)		CAGTCCTCTGGCTCGCCTGAG	0.667																																					p.P477S													.	ANAPC2	57		0			c.C1429T												56	53	54					9																	140076172		2203	4300	6503	SO:0001583	missense	29882	exon7			CCTCTGGCTCGCC	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.1429C>T	9.37:g.140076172G>A	ENSP00000314004:p.Pro477Ser		42	0.0238095238	1		23	0.52	12	NM_013366	41	0.51	21	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336918	0.24253	.	.	ENSG00000176248	ENST00000323927	T	0.77358	-1.09	5.07	5.07	0.68467	Cullin, N-terminal (1);	0.053166	0.85682	D	0.000000	T	0.68824	0.3043	L	0.52266	1.64	0.58432	D	0.999999	P;P	0.46395	0.877;0.851	B;B	0.40782	0.34;0.23	T	0.66264	-0.5967	10	0.10377	T	0.69	-21.3614	11.7783	0.51999	0.0:0.1779:0.8221:0.0	.	477;474	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	S	477	ENSP00000314004:P477S	ENSP00000314004:P477S	P	-	1	0	ANAPC2	139195993	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	5.905000	0.69893	2.363000	0.80096	0.561000	0.74099	CCA			0.667	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055315.1		NM_013366		A	140076172	G	A	140076172	3	1	68	1	0	0	0	0	1	0	0	0	603	1203	42	2	1067	2	ANAPC2	9	140076172	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	798186	140076172	1137259	41	4858											
ACTA2	59	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	90697898	90697898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagggtacatagtggtgcCccctgataggacattgttag	9	10	13	9	0	0	1	0	1	0	0	0	2	0	2	3	3	2	2	3	3	4	5			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr10:90697898C>G	ENST00000458208.1	-	8	1384	c.910G>C	c.(910-912)Ggc>Cgc	p.G304R	ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.G304R|ACTA2_ENST00000480297.1_5'Flank	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	304					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ATAGTGGTGCCCCCTGATAGG	0.507																																					p.G304R													.	.			0			c.G910C												247	201	216					10																	90697898		2203	4300	6503	SO:0001583	missense	59	exon8			TGGTGCCCCCTGA	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.910G>C	10.37:g.90697898C>G	ENSP00000402373:p.Gly304Arg		232	0	0		145	0.35	51	NM_001141945	55	0.15	8	B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886887	0.72410	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.99511	-6.05;-6.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	H	0.99973	5.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96257	0.9188	10	0.87932	D	0	.	19.2286	0.93827	0.0:1.0:0.0:0.0	.	304	P62736	ACTA_HUMAN	R	304;304;259	ENSP00000224784:G304R;ENSP00000402373:G304R	ENSP00000224784:G304R	G	-	1	0	ACTA2	90687878	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.818000	0.86416	2.890000	0.99128	0.655000	0.94253	GGC			0.507	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049264.1		NM_001613		G	90697898	C	G	90697898	3	3	68	1	0	0	0	0	1	0	0	0	192	623	22	5	231	5	ACTA2	10	90697898	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10		90697898	44836849	42	4859											
CYP2C19	1557	hgsc.bcm.edu	37	chr10	96580387	96580387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctgaagcacccagaGgtcacaggtatgatcacaga	12	7	10	12	0	2	4	2	2	0	2	3	4	3	4	2	2	2	3	2	2	2	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr10:96580387G>T	ENST00000371321.3	+	6	1036	c.954G>T	c.(952-954)gaG>gaT	p.E318D	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	318					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)			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)	AGCACCCAGAGGTCACAGGTA	0.453																																					p.E318D													CYP2C19,NS,carcinoma,+1,2	CYP2C19	1	2	0			c.G954T												164	149	154					10																	96580387		2203	4300	6503	SO:0001583	missense	1557	exon6			CCCAGAGGTCACA	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.954G>T	10.37:g.96580387G>T	ENSP00000360372:p.Glu318Asp		73	0	0		45	0.07	3	NM_000769	0		0	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	9.559	1.117987	0.20877	.	.	ENSG00000165841	ENST00000371321	T	0.13307	2.6	3.95	-1.73	0.08081	.	0.591461	0.15846	U	0.241750	T	0.07143	0.0181	L	0.28054	0.825	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.26849	-1.0091	10	0.37606	T	0.19	.	3.0572	0.06188	0.2843:0.0:0.394:0.3217	.	318	P33261	CP2CJ_HUMAN	D	318	ENSP00000360372:E318D	ENSP00000360372:E318D	E	+	3	2	CYP2C19	96570377	0.463000	0.25799	0.654000	0.29608	0.647000	0.38526	-0.667000	0.05274	-0.655000	0.05387	0.400000	0.26472	GAG			0.453	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049490.1		NM_000769		T	96580387	G	T	96580387	3	4	68	1	0	0	0	0	1	0	0	0	4168	991	35	3	976	3	CYP2C19	10	96580387	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	5882489	96580387	38954360	43	4860											
TMEM180	79847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	104229774	104229774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctcctctggaacagcCtcaatgaccccctcttcggt	6	13	7	15	1	4	1	1	1	3	0	6	2	4	2	4	2	2	1	4	2	2	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr10:104229774C>T	ENST00000238936.4	+	4	430	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.L65F	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	65						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGGAACAGCCTCAATGACCC	0.602																																					p.L65F													.	.			0			c.C193T												140	97	111					10																	104229774		2203	4300	6503	SO:0001583	missense	79847	exon4			AACAGCCTCAATG	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.193C>T	10.37:g.104229774C>T	ENSP00000238936:p.Leu65Phe		123	0	0		66	0.29	19	NM_024789	4	0.25	1	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310788	0.40895	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.84223	-1.82	5.08	1.09	0.20402	Major facilitator superfamily domain, general substrate transporter (1);	0.265101	0.37715	N	0.001963	T	0.77922	0.4203	L	0.43152	1.355	0.80722	D	1	B;B;B	0.26041	0.001;0.01;0.14	B;B;B	0.31686	0.002;0.024;0.134	T	0.64588	-0.6372	10	0.25751	T	0.34	.	9.3288	0.38010	0.0:0.7005:0.0:0.2995	.	65;65;65	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	F	65	ENSP00000238936:L65F	ENSP00000238936:L65F	L	+	1	0	TMEM180	104219764	0.998000	0.40836	0.996000	0.52242	0.918000	0.54935	0.560000	0.23500	-0.058000	0.13177	-0.320000	0.08662	CTC			0.602	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050075.2		NM_024789		T	104229774	C	T	104229774	3	4	68	1	0	0	0	0	1	0	0	0	16122	681	24	3	199	3	TMEM180	10	104229774	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	7649387	104229774	31304973	44	4861											
PCGF6	84108	broad.mit.edu;mdanderson.org	37	chr10	105110539	105110539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtcctcctcctcctcCtcttcttcctcctccagctc	2	15	2	22	0	3	0	1	0	2	0	12	0	11	0	8	0	1	1	8	0	0	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr10:105110539C>T	ENST00000369847.3	-	1	352	c.285G>A	c.(283-285)gaG>gaA	p.E95E	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Silent_p.E95E	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	95	Glu-rich.				negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		cctcctcctcctcttcttcct	0.642																																					p.E95E													.	PCGF6	23		0			c.G285A												15	14	14					10																	105110539		2196	4298	6494	SO:0001819	synonymous_variant	84108	exon1			CTCCTCCTCTTCT	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	21156	protein-coding gene	gene with protein product		607816	"ring finger protein 134"	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.285G>A	10.37:g.105110539C>T			53	0	0		29	0.1	3	NM_001011663	12	0	0	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Silent	SNP	ENST00000369847.3	37	CCDS31275.1																																																																																					0.642	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050132.1		NM_032154		T	105110539	C	T	105110539	2	4	68	1	0	0	0	0	0	0	0	1	11595	680	24	3		3	PCGF6	10	105110539	Silent	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	880765	105110539	30424208	45	4862											
MUC5B	727897	broad.mit.edu	37	chr11	1268037	1268037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcacactaccaaagtgccGactaccacaaccacgggctt	12	6	7	16	2	1	0	1	0	0	0	1	1	1	0	4	1	4	2	4	1	4	3	rs533261138	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:1268037G>A	ENST00000529681.1	+	31	9985	c.9927G>A	c.(9925-9927)ccG>ccA	p.P3309P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3312P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3309	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)		CCAAAGTGCCGACTACCACAA	0.637													g|||	42	0.00838658	0	0.0043	5008	,	,		18213	0.0357		0.001	False		,,,				2504	0.002				p.P3309P													.	MUC5B	473		0			c.G9927A												33	50	45					11																	1268037		1874	4089	5963	SO:0001819	synonymous_variant	727897	exon31			AGTGCCGACTACC	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.9927G>A	11.37:g.1268037G>A			319	0.0031347962	1		187	0.02	4	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.793	-0.043215	0.07452	.	.	ENSG00000117983	ENST00000538459	.	.	.	3.11	-6.22	0.02058	.	.	.	.	.	T	0.12135	0.0295	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26395	-1.0104	5	0.12430	T	0.62	.	0.2084	0.00153	0.249:0.2113:0.2624:0.2772	.	.	.	.	Q	193	.	ENSP00000442622:R193Q	R	+	2	0	MUC5B	1224613	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.501000	0.06398	-2.267000	0.00686	0.195000	0.17529	CGA			0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093		A	1268037	G	A	1268037	2	1	68	1	0	0	0	0	0	0	0	1	9995	1045	37	1		1	MUC5B	11	1268037	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		1268037	133738479	46	4863											
CARS	833	mdanderson.org	37	chr11	3060461	3060461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctccaagagctgtgccGcttcaggcctcttctcccga	6	10	8	17	2	3	1	1	0	2	1	6	2	5	1	5	1	2	2	5	1	1	2	rs200598975		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:3060461G>T	ENST00000397111.5	-	5	610	c.365C>A	c.(364-366)gCg>gAg	p.A122E	CARS_ENST00000380525.4_Missense_Mutation_p.A205E|CARS_ENST00000401769.3_Missense_Mutation_p.A135E|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000278224.9_Missense_Mutation_p.A122E|CARS_ENST00000397114.3_Missense_Mutation_p.A112E			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	122					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)	GAGCTGTGCCGCTTCAGGCCT	0.572			T	ALK	ALCL																																p.A205E	Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	.	.			0			c.C614A												70	65	66					11																	3060461		2202	4298	6500	SO:0001583	missense	833	exon6			TGTGCCGCTTCAG	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.365C>A	11.37:g.3060461G>T	ENSP00000380300:p.Ala122Glu		92	0	0		43	0.07	3	NM_001014437	30	0	0	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	8.955	0.969129	0.18659	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.43294	0.95;0.96;0.95;0.96;0.95	4.28	4.28	0.50868	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.342215	0.29767	N	0.011255	T	0.35941	0.0949	L	0.41573	1.285	0.38165	D	0.939153	B;B;P;P;B;P	0.45212	0.011;0.142;0.797;0.853;0.065;0.797	B;B;B;B;B;P	0.44860	0.069;0.111;0.347;0.168;0.048;0.462	T	0.25398	-1.0133	10	0.02654	T	1	-14.7178	16.9083	0.86134	0.0:0.0:1.0:0.0	.	135;205;122;122;205;112	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	E	205;122;122;112;135	ENSP00000369897:A205E;ENSP00000380300:A122E;ENSP00000278224:A122E;ENSP00000380303:A112E;ENSP00000384069:A135E	ENSP00000278224:A122E	A	-	2	0	CARS	3017037	0.980000	0.34600	0.006000	0.13384	0.005000	0.04900	6.051000	0.71072	2.202000	0.70862	0.491000	0.48974	GCG			0.572	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000030117.4		NM_001751		T	3060461	G	T	3060461	3	4	68	1	0	0	0	0	1	0	0	0	2659	1087	38	1	1961	1	CARS	11	3060461	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	1792424	3060461	131946055	47	4864											
OR51L1	119682	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	5020846	5020846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattgccacactaggtgtgGattcaatcttcatacttctt	9	16	6	10	0	5	0	3	0	2	0	5	1	5	1	1	2	2	0	1	2	3	7	rs199789707		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:5020846G>T	ENST00000321543.1	+	1	634	c.634G>T	c.(634-636)Gat>Tat	p.D212Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTAGGTGTGGATTCAATCTT	0.418																																					p.D212Y													.	OR51L1	60		0			c.G634T												239	208	219					11																	5020846		2201	4298	6499	SO:0001583	missense	119682	exon1			GGTGTGGATTCAA	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.634G>T	11.37:g.5020846G>T	ENSP00000322156:p.Asp212Tyr		213	0.0046948357	1		120	0.42	50	NM_001004755	0		0	Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881335	0.51801	.	.	ENSG00000176798	ENST00000321543	T	0.37411	1.2	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000346	T	0.75079	0.3801	H	0.97918	4.105	0.30716	N	0.748722	D	0.89917	1.0	D	0.91635	0.999	T	0.82263	-0.0544	10	0.87932	D	0	.	17.4255	0.87525	0.0:0.0:1.0:0.0	.	212	Q8NGJ5	O51L1_HUMAN	Y	212	ENSP00000322156:D212Y	ENSP00000322156:D212Y	D	+	1	0	OR51L1	4977422	0.980000	0.34600	0.999000	0.59377	0.769000	0.43574	3.555000	0.53727	2.685000	0.91497	0.557000	0.71058	GAT			0.418	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142812.1		NM_001004755		T	5020846	G	T	5020846	3	4	68	1	0	0	0	0	1	0	0	0	11119	1174	41	3	636	3	OR51L1	11	5020846	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	1960385	5020846	129985670	48	4865											
PC	5091	mdanderson.org	37	chr11	66616790	66616790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggccggcccggttcaggtCgctcacggccagggctttga	4	8	15	14	4	2	1	2	1	0	0	3	1	2	1	3	6	0	3	3	6	0	2	rs527559823		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:66616790C>T	ENST00000393958.2	-	21	3292	c.3199G>A	c.(3199-3201)Gac>Aac	p.D1067N	PC_ENST00000529047.1_Missense_Mutation_p.D187N|PC_ENST00000528224.1_5'UTR|PC_ENST00000393960.1_Missense_Mutation_p.D1067N|PC_ENST00000393955.2_Missense_Mutation_p.D1067N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1067					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)	CGGTTCAGGTCGCTCACGGCC	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		19520	0		0	False		,,,				2504	0				p.D1067N													.	.			0			c.G3199A												43	46	45					11																	66616790		2200	4295	6495	SO:0001583	missense	5091	exon21			TCAGGTCGCTCAC	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.3199G>A	11.37:g.66616790C>T	ENSP00000377530:p.Asp1067Asn		75	0	0		46	0.07	3	NM_000920	24	0	0	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710661	0.68730	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.95788	-1.64;-3.81;-3.81;-3.81	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95297	0.8474	M	0.83774	2.66	0.80722	D	1	B	0.21071	0.051	B	0.21151	0.033	D	0.93864	0.7156	10	0.87932	D	0	-49.1022	15.7742	0.78198	0.0:1.0:0.0:0.0	.	1067	P11498	PYC_HUMAN	N	187;1067;1067;1067	ENSP00000435905:D187N;ENSP00000377527:D1067N;ENSP00000377530:D1067N;ENSP00000377532:D1067N	ENSP00000377527:D1067N	D	-	1	0	PC	66373366	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	5.656000	0.67988	2.580000	0.87095	0.462000	0.41574	GAC			0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393115.1		NM_001040716		T	66616790	C	T	66616790	3	4	68	1	0	0	0	0	1	0	0	0	11514	884	31	1	345	1	PC	11	66616790	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	61595944	66616790	68389726	49	4866											
TPCN2	219931	mdanderson.org	37	chr11	68830459	68830459	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgctgccggaaatggccagGtgggctcttggtgctctggg	4	10	17	10	2	2	0	0	0	2	0	3	1	2	1	2	6	2	3	2	6	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:68830459G>T	ENST00000294309.3	+	6	754		c.e6+1		TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAATGGCCAGGTGGGCTCTTG	0.627																																					.													.	.			0			c.653+1G>T												72	71	71					11																	68830459		2200	4294	6494	SO:0001630	splice_region_variant	219931	exon6			GGCCAGGTGGGCT	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.653+1G>T	11.37:g.68830459G>T			87	0	0		42	0.07	3	NM_139075	3	0	0	Q9NT82	Splice_Site	SNP	ENST00000294309.3	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	g	19.26	3.794340	0.70452	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0299	0.86458	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68587035	1.000000	0.71417	0.990000	0.47175	0.817000	0.46193	7.641000	0.83368	2.118000	0.64928	0.550000	0.68814	.			0.627	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396878.2		NM_139075	Intron	T	68830459	G	T	68830459	5	4	68	1	0	0	0	0	0	0	1	0	16420	1275	44	3	676	3	TPCN2	11	68830459	Splice_Site	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	2213669	68830459	66176057	50	4867											
IGSF9B	22997	mdanderson.org	37	chr11	133807352	133807352	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcacctctgtcctcccGactgaccgatgtcactgtca	7	10	9	15	2	3	1	2	1	1	0	5	3	5	1	4	1	0	2	4	1	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:133807352G>T	ENST00000321016.8	-	5	828	c.598C>A	c.(598-600)Cgg>Agg	p.R200R	IGSF9B_ENST00000533871.2_Silent_p.R200R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	200	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGTCCTCCCGACTGACCGAT	0.607																																					p.R200R													.	.			0			c.C598A												68	77	74					11																	133807352		2159	4240	6399	SO:0001819	synonymous_variant	22997	exon5			CCTCCCGACTGAC	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.598C>A	11.37:g.133807352G>T			95	0	0		36	0.08	3	NM_014987	1	0	0	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																						0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				XM_290502		T	133807352	G	T	133807352	2	4	68	1	0	0	0	0	0	0	0	1	7621	1057	37	1		1	IGSF9B	11	133807352	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	64976893	133807352	1199164	51	4868											
PRMT8	56341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	3701426	3701426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccctacacccactggaagCagaccgtcttctacttggaa	10	9	7	15	1	2	1	0	0	2	1	3	3	3	3	3	2	3	1	3	2	4	4			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:3701426C>A	ENST00000382622.3	+	9	1399	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.Q328K	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	337	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCACTGGAAGCAGACCGTCTT	0.537																																					p.Q337K													PRMT8_ENST00000452611,NS,carcinoma,-2,2	PRMT8_ENST00000452611	-2	2	0			c.C1009A												188	188	188					12																	3701426		2203	4300	6503	SO:0001583	missense	56341	exon9			TGGAAGCAGACCG	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1009C>A	12.37:g.3701426C>A	ENSP00000372067:p.Gln337Lys		57	0	0		110	0.15	17	NM_019854	1	1	1	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932617	0.92458	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	D;D	0.86497	-2.13;-2.13	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.97450	1.0027	10	0.87932	D	0	.	16.3206	0.82950	0.0:1.0:0.0:0.0	.	328;337	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	K	328;337	ENSP00000414507:Q328K;ENSP00000372067:Q337K	ENSP00000372067:Q337K	Q	+	1	0	PRMT8	3571687	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.729000	0.84864	2.440000	0.82611	0.561000	0.74099	CAG			0.537	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250297.2		NM_019854		A	3701426	C	A	3701426	3	1	68	1	0	0	0	0	1	0	0	0	12562	711	25	2	1043	2	PRMT8	12	3701426	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10		3701426	130150469	52	4869											
CALCOCO1	57658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	54108460	54108460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctctgtcagctcccgcttActttctgacaactgtacctg	7	13	7	14	1	3	1	1	1	2	0	4	1	4	1	2	0	5	4	2	0	3	3			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:54108460A>G	ENST00000550804.1	-	11	1464	c.1404T>C	c.(1402-1404)agT>agC	p.S468S	CALCOCO1_ENST00000430117.2_Silent_p.S383S|CALCOCO1_ENST00000262059.4_Silent_p.S468S|CALCOCO1_ENST00000548263.1_Silent_p.S468S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	468					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)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTCCCGCTTACTTTCTGACA	0.547																																					p.S468S													.	.			0			c.T1404C												73	65	67					12																	54108460		2203	4300	6503	SO:0001819	synonymous_variant	57658	exon11			CCGCTTACTTTCT	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1404T>C	12.37:g.54108460A>G			78	0	0		88	0.22	19	NM_020898	42	0.26	11	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	ENST00000550804.1	37	CCDS8864.1																																																																																					0.547	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000407233.2		NM_020898		G	54108460	A	G	54108460	2	3	68	1	0	0	0	0	0	0	0	1	2579	388	14	4		4	CALCOCO1	12	54108460	Silent	SNP	A	TCGA-2G-AALP-01A-12D-A42Y-10	50407034	54108460	79743435	53	4870											
SARNP	84324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56154395	56154395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaatcccaaatcgctccttCctctttttcagtttctcatc	8	16	2	15	1	3	0	2	0	2	0	9	0	6	0	3	0	0	2	3	0	2	4			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:56154395C>T	ENST00000336133.3	-	10	585	c.531G>A	c.(529-531)agG>agA	p.R177R	RP11-762I7.4_ENST00000547009.1_RNA|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.E490K|SARNP_ENST00000552080.1_Silent_p.R177R|SARNP_ENST00000444631.2_Silent_p.R117R	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein	177					mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						ATCGCTCCTTCCTCTTTTTCA	0.413																																					p.R177R													.	.			0			c.G531A												141	131	134					12																	56154395		2203	4300	6503	SO:0001819	synonymous_variant	84324	exon10			CTCCTTCCTCTTT	AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"hepatocellular carcinoma 1", "cytokine induced protein 29 kDa"	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.531G>A	12.37:g.56154395C>T			133	0	0		166	0.23	38	NM_033082	863	0.26	223	A8K393|Q9P066	Silent	SNP	ENST00000336133.3	37	CCDS8892.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352418	0.24512	.	.	ENSG00000257390	ENST00000546837	.	.	.	5.72	4.84	0.62591	.	.	.	.	.	T	0.64505	0.2604	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63484	-0.6627	4	.	.	.	-1.5412	12.8382	0.57786	0.0:0.9208:0.0:0.0792	.	.	.	.	K	490	.	.	E	-	1	0	RP11-762I7.5	54440662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.031000	0.49728	1.577000	0.49804	0.650000	0.86243	GAA			0.413	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000409159.2		NM_033082		T	56154395	C	T	56154395	2	4	68	1	0	0	0	0	0	0	0	1	13866	854	30	3		3	SARNP	12	56154395	Silent	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	2045935	56154395	77697500	54	4871											
APAF1	317	broad.mit.edu	37	chr12	99052954	99052954	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggttgtttcccagggggAgtgcattgggtttcagttgg	5	14	16	6	0	1	0	1	0	0	0	2	1	2	1	1	5	1	5	1	5	1	6			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:99052954A>G	ENST00000551964.1	+	5	1279	c.543A>G	c.(541-543)ggA>ggG	p.G181G	APAF1_ENST00000339433.3_Silent_p.G181G|APAF1_ENST00000333991.1_Silent_p.G181G|APAF1_ENST00000549007.1_Silent_p.G181G|APAF1_ENST00000547045.1_Silent_p.G181G|APAF1_ENST00000550527.1_Silent_p.G170G|APAF1_ENST00000359972.2_Silent_p.G170G|APAF1_ENST00000357310.1_Silent_p.G181G|APAF1_ENST00000552268.1_Silent_p.G181G	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	181	NB-ARC.				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)	TCCCAGGGGGAGTGCATTGGG	0.423																																					p.G181G													.	APAF1	111		0			c.A543G												122	125	124					12																	99052954		2203	4300	6503	SO:0001819	synonymous_variant	317	exon5			AGGGGGAGTGCAT	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.543A>G	12.37:g.99052954A>G			162	0	0		149	0.03	4	NM_181868	0		0	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	CCDS9069.1																																																																																					0.423	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408006.1		NM_181861.1		G	99052954	A	G	99052954	2	3	68	1	0	0	0	0	0	0	0	1	755	291	11	4		4	APAF1	12	99052954	Silent	SNP	A	TCGA-2G-AALP-01A-12D-A42Y-10	42898559	99052954	34798941	55	4872											
POLR3B	55703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	106857290	106857290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactcatatattgaaaaaGtgatgatatcttcaaatgct	16	13	6	6	0	3	4	2	3	1	1	3	4	3	4	0	0	1	1	0	0	6	5			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:106857290G>C	ENST00000228347.4	+	23	2827	c.2605G>C	c.(2605-2607)Gtg>Ctg	p.V869L	POLR3B_ENST00000539066.1_Missense_Mutation_p.V811L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	869					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						TATTGAAAAAGTGATGATATC	0.403																																					p.V869L													.	.			0			c.G2605C												73	71	72					12																	106857290		2203	4300	6503	SO:0001583	missense	55703	exon23			GAAAAAGTGATGA	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.2605G>C	12.37:g.106857290G>C	ENSP00000228347:p.Val869Leu		191	0	0		218	0.22	47	NM_018082	17	0.18	3	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244428	0.95272	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	D;D	0.81908	-1.55;-1.55	5.73	5.73	0.89815	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.88105	2.93	0.80722	D	1	P	0.45902	0.868	P	0.55087	0.768	D	0.92408	0.5935	10	0.87932	D	0	-23.3381	19.8984	0.96975	0.0:0.0:1.0:0.0	.	869	Q9NW08	RPC2_HUMAN	L	869;811	ENSP00000228347:V869L;ENSP00000445721:V811L	ENSP00000228347:V869L	V	+	1	0	POLR3B	105381420	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.827000	0.99397	2.712000	0.92718	0.555000	0.69702	GTG			0.403	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407166.1		NM_018082		C	106857290	G	C	106857290	3	2	68	1	0	0	0	0	1	0	0	0	12246	1029	36	5	2695	5	POLR3B	12	106857290	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	7804336	106857290	26994605	56	4873											
NOS1	4842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	117657988	117657988	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccatggtgacgtccccAcagacgtatatgtggccccc	8	7	11	15	2	0	2	0	1	0	1	1	2	1	2	5	2	1	2	5	2	2	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:117657988A>G	ENST00000338101.4	-	27	4168	c.4164T>C	c.(4162-4164)tgT>tgC	p.C1388C	NOS1_ENST00000317775.6_Silent_p.C1354C|NOS1_ENST00000344089.3_3'UTR			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)		TGACGTCCCCACAGACGTATA	0.602																																					p.C1388C	Esophageal Squamous(162;1748 2599 51982 52956)												.	.			0			c.T4164C												141	152	148					12																	117657988		2199	4299	6498	SO:0001819	synonymous_variant	4842	exon28			GTCCCCACAGACG		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	ENST00000338101.4:c.4164T>C	12.37:g.117657988A>G			60	0	0		64	0.3	19	NM_001204218	0		0		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																					0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000268053.1				G	117657988	A	G	117657988	2	3	68	1	0	0	0	0	0	0	0	1	10558	157	6	4		4	NOS1	12	117657988	Silent	SNP	A	TCGA-2G-AALP-01A-12D-A42Y-10	10800698	117657988	16193907	57	4874											
RPLP0	6175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	120637146	120637146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggttgttttccaggtgccctCggatggccttgcgcatcatg	4	13	13	11	2	1	0	1	0	0	0	3	1	2	1	3	4	2	3	3	4	0	4			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:120637146C>G	ENST00000551150.1	-	2	512	c.197G>C	c.(196-198)cGa>cCa	p.R66P	RPLP0_ENST00000313104.5_Missense_Mutation_p.R66P|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000546989.1_Missense_Mutation_p.R66P|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.R66P|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000228306.4_Missense_Mutation_p.R66P|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000535200.1_RNA			P05388	RLA0_HUMAN	ribosomal protein, large, P0	66					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)|ribosome biogenesis (GO:0042254)|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)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTGCCCTCGGATGGCCTT	0.582																																					p.R66P													.	.			0			c.G197C												116	114	115					12																	120637146		2203	4300	6503	SO:0001583	missense	6175	exon3			TGCCCTCGGATGG	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.197G>C	12.37:g.120637146C>G	ENSP00000449328:p.Arg66Pro		98	0	0		134	0.2	27	NM_053275	5417	0.16	859	Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503907	0.96371	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000313104;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856;ENST00000547191;ENST00000550423;ENST00000551914	T;T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	T	0.77909	0.4201	H	0.96662	3.86	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.83275	0.99;0.996	D	0.85614	0.1260	10	0.87932	D	0	.	19.3132	0.94199	0.0:1.0:0.0:0.0	.	66;66	Q3B7A4;P05388	.;RLA0_HUMAN	P	66;66;66;66;66;66;46;66;52;52;66	ENSP00000376299:R66P;ENSP00000449328:R66P;ENSP00000366471:R66P;ENSP00000449205:R66P;ENSP00000339027:R66P;ENSP00000447311:R66P;ENSP00000449854:R46P;ENSP00000448046:R66P;ENSP00000450121:R52P;ENSP00000449765:R52P;ENSP00000448223:R66P	ENSP00000339027:R66P	R	-	2	0	RPLP0	119121529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.587000	0.87381	0.655000	0.94253	CGA			0.582	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403448.3		NM_053275		G	120637146	C	G	120637146	3	3	68	1	0	0	0	0	1	0	0	0	13627	884	31	5	780	5	RPLP0	12	120637146	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	2979158	120637146	13214749	58	4875											
SPTB	6710	hgsc.bcm.edu	37	chr14	65242042	65242042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggcagtcgatctccGccgcctccaccagctgctgc	4	8	11	18	3	1	0	0	0	1	0	5	1	3	0	6	2	3	3	6	2	0	0	rs377634587		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr14:65242042G>A	ENST00000389721.5	-	22	4675	c.4643C>T	c.(4642-4644)gCg>gTg	p.A1548V	SPTB_ENST00000389720.3_Missense_Mutation_p.A1548V|SPTB_ENST00000556626.1_Missense_Mutation_p.A1548V|SPTB_ENST00000542895.1_Missense_Mutation_p.A1548V|SPTB_ENST00000389722.3_Missense_Mutation_p.A1548V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1548					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)	p.A1548V(1)		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)		GTCGATCTCCGCCGCCTCCAC	0.672																																					p.A1548V													SPTB_ENST00000542895,colon,carcinoma,+1,3	SPTB_ENST00000542895	1	3	1	Substitution - Missense(1)	central_nervous_system(1)	c.C4643T							G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	32	26	28		4643,4643	4.2	0.2	14		28	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1548/2138,1548/2329	65242042	1,13005	2203	4300	6503	SO:0001583	missense	6710	exon22			ATCTCCGCCGCCT		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.4643C>T	14.37:g.65242042G>A	ENSP00000374371:p.Ala1548Val		82	0	0		97	0.04	4	NM_001024858	3	0	0	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323688	0.41096	0.0	1.16E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.06	4.17	0.49024	.	0.056284	0.64402	D	0.000001	T	0.64327	0.2588	M	0.62723	1.935	0.58432	D	0.999999	D;B;B	0.69078	0.997;0.174;0.325	D;B;B	0.66979	0.948;0.153;0.108	T	0.68880	-0.5292	10	0.87932	D	0	.	14.8331	0.70162	0.0:0.145:0.855:0.0	.	332;1548;1552	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	V	1552;1548;332;213;1548;1548;1548;1548	ENSP00000374372:A1548V;ENSP00000451324:A213V;ENSP00000451752:A1548V;ENSP00000374371:A1548V;ENSP00000443882:A1548V;ENSP00000374370:A1548V	ENSP00000334218:A332V	A	-	2	0	SPTB	64311795	0.000000	0.05858	0.153000	0.22517	0.453000	0.32348	0.470000	0.22084	1.240000	0.43803	0.561000	0.74099	GCG			0.672	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000414080.1				A	65242042	G	A	65242042	3	1	68	1	0	0	0	0	1	0	0	0	15141	1087	38	1	2468	1	SPTB	14	65242042	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		65242042	42107498	59	4876											
ZFYVE26	23503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	68282599	68282599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgtgccagctcccattCtcccctccgcaggcattcgc	4	10	8	19	2	1	0	0	0	1	0	5	0	3	0	6	1	3	3	6	1	0	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr14:68282599C>T	ENST00000347230.4	-	2	220	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E28K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	28					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)		AGCTCCCATTCTCCCCTCCGC	0.507																																					p.E28K													.	.			0			c.G82A												106	91	96					14																	68282599		2203	4300	6503	SO:0001583	missense	23503	exon2			CCCATTCTCCCCT	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.82G>A	14.37:g.68282599C>T	ENSP00000251119:p.Glu28Lys		101	0	0		127	0.31	40	NM_015346	0		0	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752077	0.69533	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.30714	1.67;1.52	5.99	5.09	0.68999	.	0.533478	0.21826	N	0.068557	T	0.29652	0.0740	L	0.50333	1.59	0.35451	D	0.795714	P;B;B	0.35575	0.51;0.328;0.22	B;B;B	0.36666	0.23;0.178;0.024	T	0.43410	-0.9393	10	0.59425	D	0.04	-1.8959	10.046	0.42186	0.0:0.6484:0.2812:0.0705	.	28;28;28	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	K	28	ENSP00000251119:E28K;ENSP00000450603:E28K	ENSP00000251119:E28K	E	-	1	0	ZFYVE26	67352352	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.183000	0.42565	1.500000	0.48636	0.655000	0.94253	GAA			0.507	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412736.2		NM_015346		T	68282599	C	T	68282599	3	4	68	1	0	0	0	0	1	0	0	0	17691	922	32	3	7701	3	ZFYVE26	14	68282599	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	3040557	68282599	39066941	60	4877											
SPTBN5	51332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	42143126	42143126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaaacaggatctctgccCcactggtcagcctggcaccc	8	7	9	17	0	2	0	1	0	1	0	3	1	2	1	4	3	4	2	4	3	1	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr15:42143126C>T	ENST00000320955.6	-	66	11074	c.10847G>A	c.(10846-10848)gGg>gAg	p.G3616E	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3616	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GATCTCTGCCCCACTGGTCAG	0.672																																					p.G3581E													.	.			0			c.G10742A												24	30	28					15																	42143126		2170	4270	6440	SO:0001583	missense	51332	exon66			TCTGCCCCACTGG	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.10847G>A	15.37:g.42143126C>T	ENSP00000317790:p.Gly3616Glu		158	0	0		101	0.38	38	NM_016642	3	0	0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	9.207	1.029911	0.19512	.	.	ENSG00000137877	ENST00000320955	T	0.34859	1.34	3.52	-1.0	0.10196	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.631105	0.14287	N	0.329165	T	0.25865	0.0630	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.22906	-1.0203	10	0.21540	T	0.41	.	5.0846	0.14675	0.0:0.4104:0.363:0.2266	.	3616	Q9NRC6	SPTN5_HUMAN	E	3616	ENSP00000317790:G3616E	ENSP00000317790:G3616E	G	-	2	0	SPTBN5	39930418	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.290000	0.08354	-0.179000	0.10654	0.561000	0.74099	GGG			0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000420237.1		NM_016642		T	42143126	C	T	42143126	3	4	68	1	0	0	0	0	1	0	0	0	15145	623	22	3	189	3	SPTBN5	15	42143126	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10		42143126	60388266	61	4878											
STRA6	64220	broad.mit.edu	37	chr15	74476251	74476252	+	Frame_Shift_Ins	INS	-	-	T																															ctcatccaacagaatatggcINSttggcgggagggatggggac																										TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr15:74476251_74476252insT	ENST00000323940.5	-	14	1490_1491	c.1245_1246insA	c.(1243-1248)caagccfs	p.A416fs	STRA6_ENST00000535552.1_Frame_Shift_Ins_p.A453fs|STRA6_ENST00000416286.3_Frame_Shift_Ins_p.A408fs|STRA6_ENST00000449139.2_Frame_Shift_Ins_p.A416fs|STRA6_ENST00000423167.2_Frame_Shift_Ins_p.A407fs|STRA6_ENST00000563965.1_Frame_Shift_Ins_p.A455fs|STRA6_ENST00000574278.1_Frame_Shift_Ins_p.A431fs|STRA6_ENST00000395105.4_Frame_Shift_Ins_p.A416fs|STRA6_ENST00000574439.1_5'UTR	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	416					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						CAGAATATGGCTTGGCGGGAGG	0.634																																					p.A455fs													.	STRA6	66		0			c.1363_1364insA																																									SO:0001589	frameshift_variant	64220	exon14			ATATGGCTTGGCG	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.1246dupA	15.37:g.74476253_74476253dupT	ENSP00000326085:p.Ala416fs		94	0	0		66	0.15	10	NM_001199042	29	0	0	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Frame_Shift_Ins	INS	ENST00000323940.5	37	CCDS10261.1																																																																																					0.634	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272891.1				T	74476252	-	T	74476251	7	5	68	1	0	1	1	0	0	0	0	0	15345	797	28	0	781	0	STRA6	15	74476251	Frame_Shift_Ins	INS	-	TCGA-2G-AALP-01A-12D-A42Y-10	32333125	74476251	28055141	62	4879											
STRA6	64220	mdanderson.org	37	chr15	74477381	74477381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtaagcaggacaagaccaagGctgagatgtagcacactggt	14	6	13	8	0	0	2	0	1	0	2	0	4	0	3	1	3	2	5	1	3	4	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr15:74477381G>T	ENST00000323940.5	-	13	1351	c.1106C>A	c.(1105-1107)gCc>gAc	p.A369D	STRA6_ENST00000535552.1_Missense_Mutation_p.A406D|STRA6_ENST00000416286.3_Missense_Mutation_p.A361D|STRA6_ENST00000449139.2_Missense_Mutation_p.A369D|STRA6_ENST00000423167.2_Missense_Mutation_p.A360D|STRA6_ENST00000563965.1_Missense_Mutation_p.A408D|STRA6_ENST00000574278.1_Missense_Mutation_p.A384D|STRA6_ENST00000395105.4_Missense_Mutation_p.A369D|STRA6_ENST00000574439.1_5'UTR	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	369					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						CAAGACCAAGGCTGAGATGTA	0.597																																					p.A408D													.	.			0			c.C1223A												189	163	172					15																	74477381		2198	4297	6495	SO:0001583	missense	64220	exon13			ACCAAGGCTGAGA	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.1106C>A	15.37:g.74477381G>T	ENSP00000326085:p.Ala369Asp		73	0	0		53	0.06	3	NM_001199042	40	0	0	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523131	0.85600	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.0	5.0	0.66597	.	0.051939	0.85682	D	0.000000	D	0.90734	0.7092	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.74348	0.983;0.983;0.976;0.976;0.983;0.94	D	0.91761	0.5420	10	0.66056	D	0.02	-33.3689	17.9099	0.88930	0.0:0.0:1.0:0.0	.	406;407;360;369;408;178	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	D	369;369;301;178;408;360;406;259	ENSP00000378537:A369D;ENSP00000326085:A369D;ENSP00000413012:A360D;ENSP00000440238:A406D	ENSP00000326085:A369D	A	-	2	0	STRA6	72264434	1.000000	0.71417	0.896000	0.35187	0.962000	0.63368	6.497000	0.73674	2.312000	0.78011	0.561000	0.74099	GCC			0.597	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272891.1				T	74477381	G	T	74477381	3	4	68	1	0	0	0	0	1	0	0	0	15345	1203	42	2	925	2	STRA6	15	74477381	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	1130	74477381	28054011	63	4880											
CSK	1445	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	75094846	75094846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcaaaacccacgagctgCacctgtgacggctggcctcc	10	6	9	16	2	1	1	1	1	0	0	2	2	2	1	4	2	3	3	4	2	2	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr15:75094846C>T	ENST00000220003.9	+	13	2074	c.1345C>T	c.(1345-1347)Cac>Tac	p.H449Y	CSK_ENST00000439220.2_Missense_Mutation_p.H449Y|CSK_ENST00000567571.1_Missense_Mutation_p.H449Y|CSK_ENST00000309470.9_Missense_Mutation_p.H449Y	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	449	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						CCACGAGCTGCACCTGTGACG	0.622																																					p.H449Y													.	CSK	43		0			c.C1345T												54	55	54					15																	75094846		2197	4296	6493	SO:0001583	missense	1445	exon14			GAGCTGCACCTGT		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.1345C>T	15.37:g.75094846C>T	ENSP00000220003:p.His449Tyr		87	0.0114942529	1		55	0.4	22	NM_001127190	233	0.42	99	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	1.690	-0.504183	0.04261	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.74947	-0.89;-0.89;-0.89	4.38	4.38	0.52667	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.572245	0.19187	N	0.120506	T	0.54532	0.1864	L	0.29908	0.895	0.31002	N	0.720205	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	10	0.06236	T	0.91	-19.8479	6.5311	0.22328	0.0:0.8021:0.0:0.1979	.	449	P41240	CSK_HUMAN	Y	449;449;398;449	ENSP00000220003:H449Y;ENSP00000414764:H449Y;ENSP00000438808:H449Y	ENSP00000220003:H449Y	H	+	1	0	CSK	72881899	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	2.380000	0.44327	2.277000	0.76020	0.563000	0.77884	CAC			0.622	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286398.2		NM_004383		T	75094846	C	T	75094846	3	4	68	1	0	0	0	0	1	0	0	0	3945	710	25	2	1391	2	CSK	15	75094846	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	617465	75094846	27436546	64	4881											
MAPK8IP3	23162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1818243	1818243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggagggcgcccgtcccggGggcatcatccacgtgtatgg	5	6	18	12	4	1	0	1	0	0	0	3	1	3	1	3	6	0	2	3	6	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr16:1818243G>A	ENST00000250894.4	+	30	3760	c.3603G>A	c.(3601-3603)ggG>ggA	p.G1201G	MAPK8IP3_ENST00000356010.5_Silent_p.G1195G	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1201					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCGTCCCGGGGGCATCATCC	0.647																																					p.G1201G													MAPK8IP3_ENST00000250894,colon,carcinoma,+2,2	MAPK8IP3_ENST00000250894	2	2	0			c.G3603A												63	72	69					16																	1818243		2108	4223	6331	SO:0001819	synonymous_variant	23162	exon30			TCCCGGGGGCATC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3603G>A	16.37:g.1818243G>A			43	0	0		53	0.11	6	NM_015133	49	0.24	12	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	ENST00000250894.4	37	CCDS10442.2																																																																																					0.647	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250508.2		NM_001040439		A	1818243	G	A	1818243	2	1	68	1	0	0	0	0	0	0	0	1	9302	1219	43	3		3	MAPK8IP3	16	1818243	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		1818243	88536510	65	4882											
NLRC3	197358	mdanderson.org	37	chr16	3614976	3614976	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctttcacctgctcggctGgggagcccgtaccgtggccc	3	8	15	15	3	1	0	1	0	0	0	2	1	1	1	4	5	3	4	4	5	1	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr16:3614976G>T	ENST00000301749.7	-	0	467				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_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						CTGCTCGGCTGGGGAGCCCGT	0.682																																					p.P21Q													.	.			0			c.C62A												19	24	22					16																	3614976		1925	4123	6048			197358	exon4			TCGGCTGGGGAGC	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.3614976G>T			61	0	0		48	0.08	4	NM_178844	0		0	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37		.	.	.	.	.	.	.	.	.	.	G	13.98	2.397928	0.42512	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.80824	-0.51;-0.55;-0.5;-1.42	4.96	4.0	0.46444	.	0.222922	0.34932	N	0.003565	D	0.82577	0.5067	.	.	.	0.23156	N	0.998203	D	0.62365	0.991	P	0.55161	0.77	T	0.74607	-0.3609	9	0.54805	T	0.06	.	10.3914	0.44171	0.0956:0.0:0.9044:0.0	.	68	C9JLH9	.	Q	21;21;21;68;38	ENSP00000301749:P21Q;ENSP00000352039:P21Q;ENSP00000414415:P68Q;ENSP00000323897:P38Q	ENSP00000301749:P21Q	P	-	2	0	NLRC3	3554977	0.270000	0.24152	0.974000	0.42286	0.556000	0.35491	1.297000	0.33400	2.320000	0.78422	0.650000	0.86243	CCA			0.682	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene				NM_178844		T	3614976	G	T	3614976	1	4	68	0	1	0	0	0	0	0	0	0	10485	1348	47	3		3	NLRC3	16	3614976	RNA	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	1796733	3614976	86739777	66	4883											
NUP93	9688	mdanderson.org	37	chr16	56855496	56855496	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcttccgtcgcagagctCgatgataaggtagcacctag	9	10	12	10	3	0	2	0	1	0	1	3	3	1	2	2	1	3	5	2	1	3	4	rs2118017	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr16:56855496C>T	ENST00000308159.5	+	7	766	c.645C>T	c.(643-645)ctC>ctT	p.L215L	NUP93_ENST00000564887.1_Silent_p.L92L|NUP93_ENST00000542526.1_Silent_p.L92L|NUP93_ENST00000569842.1_Silent_p.L215L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	215					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)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCGCAGAGCTCGATGATAAGG	0.453																																					p.L215L	Colon(33;610 796 1305 1705 38917)												.	.			0			c.C645T												73	74	74					16																	56855496		2198	4300	6498	SO:0001819	synonymous_variant	9688	exon7			AGAGCTCGATGAT	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.645C>T	16.37:g.56855496C>T			115	0	0		107	0.03	3	NM_014669	116	0	0	B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	CCDS10769.1																																																																																					0.453	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257058.4		NM_014669		T	56855496	C	T	56855496	2	4	68	1	0	0	0	0	0	0	0	1	10789	871	31	1		1	NUP93	16	56855496	Silent	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	53240520	56855496	33499257	67	4884											
WRAP53	55135	mdanderson.org	37	chr17	7606661	7606661	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaggagctgggccttcccTtgctctccacgcgccacgtc	5	8	12	16	3	1	1	0	0	1	1	4	3	2	2	4	2	2	2	4	2	0	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:7606661T>C	ENST00000316024.5	+	10	3852	c.1504T>C	c.(1504-1506)Ttg>Ctg	p.L502L	EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000457584.2_Silent_p.L502L|WRAP53_ENST00000534050.1_Silent_p.L469L|WRAP53_ENST00000431639.2_Silent_p.L502L|WRAP53_ENST00000396463.2_Silent_p.L502L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	502					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						GGGCCTTCCCTTGCTCTCCAC	0.642																																					p.L502L													.	.			0			c.T1504C												89	71	77					17																	7606661		2203	4300	6503	SO:0001819	synonymous_variant	55135	exon11			CTTCCCTTGCTCT	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.1504T>C	17.37:g.7606661T>C			43	0	0		58	0.05	3	NM_001143991	239	0	1	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	CCDS11119.1																																																																																					0.642	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259385.2		NM_018081		C	7606661	T	C	7606661	2	2	68	1	0	0	0	0	0	0	0	1	17424	1606	56	4		4	WRAP53	17	7606661	Silent	SNP	T	TCGA-2G-AALP-01A-12D-A42Y-10		7606661	73588549	68	4885											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		268	0.0634328358	17		229	0.05	12	NM_145301	35	0.51	18	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	68	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	7850426	15457087	65738123	69	4886											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262096	39262096	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaactgctgccgcccCagctgcagcatctccagctg	7	6	9	19	1	1	0	0	0	1	0	2	0	1	0	5	0	8	5	5	0	1	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:39262096C>T	ENST00000391415.1	+	1	513	c.456C>T	c.(454-456)ccC>ccT	p.P152P		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	152	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgccgccccagctgcagca	0.672																																					p.P152P													.	KRTAP4-9	110		0			c.C456T												5	8	7					17																	39262096		674	1562	2236	SO:0001819	synonymous_variant	100132386	exon1			CCGCCCCAGCTGC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.456C>T	17.37:g.39262096C>T			46	0.0217391304	1		53	0.09	5	NM_001146041	0		0		Silent	SNP	ENST00000391415.1	37	CCDS54124.1																																																																																					0.672	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257688.1		NM_001146041		T	39262096	C	T	39262096	2	4	68	1	0	0	0	0	0	0	0	1	8572	581	21	3		3	KRTAP4-9	17	39262096	Silent	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	23805009	39262096	41933114	70	4887											
KRT38	8687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	39594811	39594811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagctccaggatctccgActggcagcactgcagctcct	7	9	9	16	1	2	0	1	0	2	0	6	2	4	1	3	2	4	5	3	2	0	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:39594811A>G	ENST00000246646.3	-	5	951	c.952T>C	c.(952-954)Tcg>Ccg	p.S318P		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	318	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGGATCTCCGACTGGCAGCAC	0.602																																					p.S318P													KRT38,mouth,carcinoma,+1,1	KRT38	1	1	0			c.T952C												121	95	104					17																	39594811		2203	4300	6503	SO:0001583	missense	8687	exon5			TCTCCGACTGGCA	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.952T>C	17.37:g.39594811A>G	ENSP00000246646:p.Ser318Pro		138	0	0		124	0.27	34	NM_006771	0		0	A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	.	16.70	3.196662	0.58126	.	.	ENSG00000171360	ENST00000246646	D	0.89485	-2.52	4.37	0.695	0.18070	Filament (1);	0.336095	0.21670	N	0.070900	D	0.93871	0.8039	M	0.92970	3.365	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85800	0.1373	10	0.87932	D	0	.	4.5938	0.12320	0.4967:0.3171:0.1862:0.0	.	318	O76015	KRT38_HUMAN	P	318	ENSP00000246646:S318P	ENSP00000246646:S318P	S	-	1	0	KRT38	36848337	0.000000	0.05858	0.994000	0.49952	0.989000	0.77384	-1.754000	0.01816	-0.064000	0.13043	0.529000	0.55759	TCG			0.602	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257307.2		NM_006771		G	39594811	A	G	39594811	3	3	68	1	0	0	0	0	1	0	0	0	8490	275	10	4	430	4	KRT38	17	39594811	Missense_Mutation	SNP	A	TCGA-2G-AALP-01A-12D-A42Y-10	332715	39594811	41600399	71	4888											
KRT9	3857	broad.mit.edu	37	chr17	39723690	39723690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctccaccatagccaccCccacttcctcctccagagcc	7	8	3	23	0	0	1	0	0	0	1	5	1	5	1	10	0	2	0	10	0	1	3			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:39723690C>T	ENST00000246662.4	-	7	1772	c.1707G>A	c.(1705-1707)ggG>ggA	p.G569G	KRT9_ENST00000588431.1_Silent_p.G336G	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	569	Tail.				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)	p.G569G(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		Breast(137;0.000307)				catagccacccccacttcctc	0.602																																					p.G569G													KRT9,NS,carcinoma,0,1	KRT9	78	1	1	Substitution - coding silent(1)	endometrium(1)	c.G1707A												238	173	195					17																	39723690		2182	4279	6461	SO:0001819	synonymous_variant	3857	exon7			GCCACCCCCACTT		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.1707G>A	17.37:g.39723690C>T			320	0.003125	1		274	0.02	6	NM_000226	0		0	O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	CCDS32654.1																																																																																					0.602	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257707.1		NM_000226		T	39723690	C	T	39723690	2	4	68	1	0	0	0	0	0	0	0	1	8516	610	22	3		3	KRT9	17	39723690	Silent	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	128879	39723690	41471520	72	4889											
JUP	3728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39912437	39912437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacacttaccatctccataGggctcattgatgggaatcat	12	11	7	11	0	3	1	2	1	1	0	4	2	3	2	2	2	1	1	2	2	3	3			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:39912437G>A	ENST00000393931.3	-	13	2194	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	JUP_ENST00000393930.1_Silent_p.P692P|JUP_ENST00000310706.5_Silent_p.P692P|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	692					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATCTCCATAGGGCTCATTGA	0.557																																					p.P692P	Colon(16;42 520 6044 17852 28530)												.	.			0			c.C2076T												69	60	63					17																	39912437		2203	4300	6503	SO:0001819	synonymous_variant	3728	exon13			TCCATAGGGCTCA	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2076C>T	17.37:g.39912437G>A			105	0	0		93	0.33	31	NM_021991	260	0.2	52	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	CCDS11407.1																																																																																					0.557	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257406.1				A	39912437	G	A	39912437	2	1	68	1	0	0	0	0	0	0	0	1	7987	987	35	3		3	JUP	17	39912437	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	188747	39912437	41282773	73	4890											
TGIF1	7050	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	3452011	3452011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagccgggtgtctgccgggGtgggctccccgcattgttcg	3	9	17	12	4	1	1	0	0	1	1	3	1	2	1	4	4	2	3	4	4	0	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr18:3452011G>A	ENST00000330513.5	+	1	337	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000548489.2_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	12					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTCTGCCGGGGTGGGCTCCCC	0.657																																					p.V12M													.	.			0			c.G34A												36	42	40					18																	3452011		2203	4300	6503	SO:0001583	missense	7050	exon1			GCCGGGGTGGGCT	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.34G>A	18.37:g.3452011G>A	ENSP00000327959:p.Val12Met		113	0	0		79	0.49	39	NM_170695	4	0.75	3	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774850	0.31411	.	.	ENSG00000177426	ENST00000330513	T	0.57595	0.39	3.03	2.07	0.26955	.	.	.	.	.	T	0.35219	0.0924	N	0.22421	0.69	0.19945	N	0.999947	B	0.11235	0.004	B	0.04013	0.001	T	0.29366	-1.0014	9	0.87932	D	0	1.0347	5.3786	0.16179	0.1765:0.0:0.8235:0.0	.	12	Q15583	TGIF1_HUMAN	M	12	ENSP00000327959:V12M	ENSP00000327959:V12M	V	+	1	0	TGIF1	3442011	0.030000	0.19436	0.027000	0.17364	0.031000	0.12232	-0.371000	0.07513	0.773000	0.33404	-0.345000	0.07892	GTG			0.657	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000254368.4		NM_170695		A	3452011	G	A	3452011	3	1	68	1	0	0	0	0	1	0	0	0	15848	1261	44	3	118	3	TGIF1	18	3452011	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		3452011	74625237	74	4891											
ADNP2	22850	mdanderson.org	37	chr18	77875467	77875467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcttgacaacatcagaaaGgtgcgaaaaaaggtgaaagg	19	6	11	5	1	2	3	1	2	1	1	2	4	2	3	0	3	2	0	0	3	7	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr18:77875467G>T	ENST00000262198.4	+	2	497	c.42G>T	c.(40-42)aaG>aaT	p.K14N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	14					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACATCAGAAAGGTGCGAAAAA	0.353																																					p.K14N													.	.			0			c.G42T												95	89	91					18																	77875467		2203	4300	6503	SO:0001583	missense	22850	exon2			CAGAAAGGTGCGA	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.42G>T	18.37:g.77875467G>T	ENSP00000262198:p.Lys14Asn		77	0	0		50	0.06	3	NM_014913	2	0	0	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019849	0.54576	.	.	ENSG00000101544	ENST00000262198	T	0.72282	-0.64	4.5	1.51	0.23008	.	0.085466	0.48286	D	0.000199	T	0.69806	0.3152	L	0.59436	1.845	0.33596	D	0.60166	P	0.50272	0.933	P	0.51324	0.666	T	0.73288	-0.4030	9	.	.	.	-26.1204	7.5243	0.27645	0.2973:0.0:0.7027:0.0	.	14	Q6IQ32	ADNP2_HUMAN	N	14	ENSP00000262198:K14N	.	K	+	3	2	ADNP2	75976458	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.200000	0.32247	0.179000	0.19938	0.467000	0.42956	AAG			0.353	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418979.1		NM_014913		T	77875467	G	T	77875467	3	4	68	1	0	0	0	0	1	0	0	0	324	991	35	3	44	3	ADNP2	18	77875467	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	74423456	77875467	201781	75	4892											
FSD1	79187	mdanderson.org	37	chr19	4307981	4307981	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagcgaggactttcctcagGtgggtgcctctgatgctgcc	6	10	13	12	1	2	1	1	1	1	0	3	3	3	2	3	3	4	1	3	3	0	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:4307981G>T	ENST00000221856.6	+	4	492		c.e4+1		FSD1_ENST00000598010.1_Splice_Site|FSD1_ENST00000597590.1_Splice_Site	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1						mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCCTCAGGTGGGTGCCTC	0.567																																					.													.	.			0			c.345+1G>T												51	41	45					19																	4307981		2203	4300	6503	SO:0001630	splice_region_variant	79187	exon4			CCTCAGGTGGGTG	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.345+1G>T	19.37:g.4307981G>T			63	0	0		43	0.07	3	NM_024333	1	0	0	B2RDT0|Q9BXN0|Q9HAG4	Splice_Site	SNP	ENST00000221856.6	37	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071864	0.55646	.	.	ENSG00000105255	ENST00000221856	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9189	0.79544	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FSD1	4258981	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	8.208000	0.89748	2.354000	0.79902	0.506000	0.49869	.			0.567	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458091.1		NM_024333	Intron	T	4307981	G	T	4307981	5	4	68	1	0	0	0	0	0	0	1	0	6083	1275	44	3	360	3	FSD1	19	4307981	Splice_Site	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		4307981	54821002	76	4893											
TIMM44	10469	broad.mit.edu	37	chr19	7997577	7997577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggtccttgtcaaaggccgGgtccacccggaggatctccg	6	7	13	15	4	2	0	1	0	1	0	5	2	4	2	6	5	0	0	6	5	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:7997577G>T	ENST00000270538.3	-	9	1190	c.922C>A	c.(922-924)Ccg>Acg	p.P308T	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	308					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCAAAGGCCGGGTCCACCCGG	0.652																																					p.P308T													.	TIMM44	47		0			c.C922A												60	64	63					19																	7997577		2203	4300	6503	SO:0001583	missense	10469	exon9			AGGCCGGGTCCAC	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.922C>A	19.37:g.7997577G>T	ENSP00000270538:p.Pro308Thr		212	0	0		146	0.03	5	NM_006351	273	0	0	A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414828	0.83449	.	.	ENSG00000104980	ENST00000270538	D	0.84800	-1.9	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.93041	0.7785	M	0.87682	2.9	0.80722	D	1	D	0.64830	0.994	D	0.74023	0.982	D	0.94087	0.7349	10	0.87932	D	0	-18.3684	16.2918	0.82756	0.0:0.0:1.0:0.0	.	308	O43615	TIM44_HUMAN	T	308	ENSP00000270538:P308T	ENSP00000270538:P308T	P	-	1	0	TIMM44	7903577	1.000000	0.71417	0.997000	0.53966	0.883000	0.51084	9.089000	0.94137	2.529000	0.85273	0.561000	0.74099	CCG			0.652	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461596.3				T	7997577	G	T	7997577	3	4	68	1	0	0	0	0	1	0	0	0	15935	1232	43	3	456	3	TIMM44	19	7997577	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	3689596	7997577	51131406	77	4894											
SIN3B	23309	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	16973303	16973303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaagcgcataggatccaGctaccgggcactccccaaaa	12	5	9	15	2	0	0	0	0	0	0	2	1	2	1	4	2	4	4	4	2	5	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:16973303G>T	ENST00000248054.5	+	9	1220	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	SIN3B_ENST00000379803.1_Missense_Mutation_p.S400I|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATAGGATCCAGCTACCGGGCA	0.582																																					p.S400I													.	SIN3B	90		0			c.G1199T												62	54	57					19																	16973303		2203	4300	6503	SO:0001583	missense	23309	exon9			GATCCAGCTACCG	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.1199G>T	19.37:g.16973303G>T	ENSP00000248054:p.Ser400Ile		73	0	0		43	0.09	4	NM_015260	14	0	0		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	26.7	4.759607	0.89932	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.74106	-0.74;-0.81	4.73	4.73	0.59995	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.89228	0.3575	10	0.87932	D	0	-3.62	17.6866	0.88257	0.0:0.0:1.0:0.0	.	400;400	O75182-2;O75182	.;SIN3B_HUMAN	I	400	ENSP00000369131:S400I;ENSP00000248054:S400I	ENSP00000248054:S400I	S	+	2	0	SIN3B	16834303	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.611000	0.98342	2.179000	0.69175	0.561000	0.74099	AGC			0.582	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000462846.1		NM_015260		T	16973303	G	T	16973303	3	4	68	1	0	0	0	0	1	0	0	0	14349	971	34	2	1233	2	SIN3B	19	16973303	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	8975726	16973303	42155680	78	4895											
MYO9B	4650	mdanderson.org	37	chr19	17323115	17323115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcctcgggccagaccaatgGctgagagccacagctgacaa	11	4	12	14	2	0	3	0	2	0	2	1	4	0	3	4	2	2	2	4	2	2	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:17323115G>T	ENST00000594824.1	+	40	6617	c.6470G>T	c.(6469-6471)gGc>gTc	p.G2157V	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2157	Tail.			NG -> MAESHS (in Ref. 3; AAC26597). {ECO:0000305}.	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						CAGACCAATGGCTGAGAGCCA	0.657																																					p.G2157V													.	.			0			c.G6470T												6	8	8					19																	17323115		1930	4087	6017	SO:0001583	missense	4650	exon40			CCAATGGCTGAGA		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.6470G>T	19.37:g.17323115G>T	ENSP00000471367:p.Gly2157Val		17	0	0		15	0.13	2	NM_004145	71	0	0	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	G	17.29	3.352789	0.61293	.	.	ENSG00000099331	ENST00000319396	.	.	.	3.99	3.99	0.46301	.	0.164041	0.28977	N	0.013537	T	0.56645	0.1999	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59553	-0.7433	9	0.87932	D	0	.	9.2856	0.37755	0.0:0.0:0.7849:0.2151	.	2157	Q13459	MYO9B_HUMAN	V	502	.	ENSP00000314032:G502V	G	+	2	0	MYO9B	17184115	0.998000	0.40836	0.828000	0.32881	0.465000	0.32709	3.366000	0.52343	2.264000	0.75181	0.485000	0.47835	GGC			0.657	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000463236.1				T	17323115	G	T	17323115	3	4	68	1	0	0	0	0	1	0	0	0	10101	1203	42	2	6635	2	MYO9B	19	17323115	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	349812	17323115	41805868	79	4896											
CRTC1	23373	mdanderson.org	37	chr19	18888142	18888142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctcaacgaccccgacatgGttctggccgacccagccacc	8	6	9	18	3	2	0	1	0	1	0	2	3	2	0	6	2	3	2	6	2	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:18888142G>T	ENST00000321949.8	+	14	1881	c.1855G>T	c.(1855-1857)Gtt>Ttt	p.V619F	CRTC1_ENST00000594658.1_Missense_Mutation_p.V578F|CRTC1_ENST00000338797.6_Missense_Mutation_p.V635F|CRTC1_ENST00000601916.1_Missense_Mutation_p.V377F	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						CCCCGACATGGTTCTGGCCGA	0.677																																					p.V635F													.	.			0			c.G1903T												183	194	190					19																	18888142		2203	4300	6503	SO:0001583	missense	23373	exon15			GACATGGTTCTGG	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.1855G>T	19.37:g.18888142G>T	ENSP00000323332:p.Val619Phe		27	0	0		24	0.13	3	NM_001098482	45	0	0		Missense_Mutation	SNP	ENST00000321949.8	37	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441581	0.83993	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.17370	2.31;2.28	3.67	3.67	0.42095	Transducer of regulated CREB activity, C-terminal (1);	0.076106	0.52532	D	0.000063	T	0.24547	0.0595	L	0.27053	0.805	0.80722	D	1	D;D	0.63046	0.992;0.958	P;P	0.62014	0.897;0.836	T	0.02603	-1.1135	9	.	.	.	-13.1031	14.5495	0.68057	0.0:0.0:1.0:0.0	.	635;619	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	F	635;619	ENSP00000345001:V635F;ENSP00000323332:V619F	.	V	+	1	0	CRTC1	18749142	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.399000	0.79935	1.898000	0.54952	0.467000	0.42956	GTT			0.677	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465151.3		NM_025021		T	18888142	G	T	18888142	3	4	68	1	0	0	0	0	1	0	0	0	3901	1261	44	3	1961	3	CRTC1	19	18888142	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	1565027	18888142	40240841	80	4897											
SIGLEC11	114132	mdanderson.org	37	chr19	50453375	50453375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccagagcctcaggcccTggaagctgagggaggcatag	9	5	15	12	0	1	2	1	1	0	1	2	4	2	4	3	4	2	3	3	4	2	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:50453375T>C	ENST00000447370.2	-	11	2039	c.1949A>G	c.(1948-1950)cAg>cGg	p.Q650R	U3_ENST00000408198.1_RNA|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.Q554R|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	650					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)		CCTCAGGCCCTGGAAGCTGAG	0.682																																					p.Q650R													.	.			0			c.A1949G												35	36	36					19																	50453375		2202	4300	6502	SO:0001583	missense	114132	exon11			AGGCCCTGGAAGC	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.1949A>G	19.37:g.50453375T>C	ENSP00000412361:p.Gln650Arg		87	0	0		55	0.05	3	NM_052884	4	0	0		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.239|8.239	0.806443|0.806443	0.16467|0.16467	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.05855|.	3.38|.	3.97|3.97	-7.93|-7.93	0.01156|0.01156	.|.	1.148760|.	0.06703|.	N|.	0.771782|.	T|T	0.26195|0.26195	0.0639|0.0639	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	D;B|.	0.58620|.	0.983;0.289|.	P;B|.	0.45639|.	0.488;0.062|.	T|T	0.22800|0.22800	-1.0206|-1.0206	10|5	0.07482|.	T|.	0.82|.	.|.	0.9084|0.9084	0.01289|0.01289	0.326:0.2634:0.2606:0.15|0.326:0.2634:0.2606:0.15	.|.	554;650|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	R|G	650;554|544	ENSP00000412361:Q650R|.	ENSP00000412361:Q650R|.	Q|R	-|-	2|1	0|2	SIGLEC11|SIGLEC11	55145187|55145187	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.136000|-2.136000	0.01305|0.01305	-1.982000|-1.982000	0.00988|0.00988	-0.290000|-0.290000	0.09829|0.09829	CAG|AGG			0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347382.1		NM_052884		C	50453375	T	C	50453375	3	2	68	1	0	0	0	0	1	0	0	0	14330	1580	55	4	151	4	SIGLEC11	19	50453375	Missense_Mutation	SNP	T	TCGA-2G-AALP-01A-12D-A42Y-10	31565233	50453375	8675608	81	4898											
PAX1	5075	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr20	21689976	21689976	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcgccccgggcccgccGtggccgcctgcgcaaggtcc	3	5	13	20	6	0	0	0	0	0	0	2	0	1	0	8	3	2	1	8	3	2	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr20:21689976G>T	ENST00000398485.2	+	4	1230	c.1176G>T	c.(1174-1176)ccG>ccT	p.P392P	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.P368P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	392					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGGCCCGCCGTGGCCGCCTG	0.751																																					p.P392P													.	.			0			c.G1176T												11	16	14					20																	21689976		1956	3797	5753	SO:0001819	synonymous_variant	5075	exon4			CCCGCCGTGGCCG		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1176G>T	20.37:g.21689976G>T			16	0	0		14	0.5	7	NM_006192	0		0	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	CCDS13146.2																																																																																					0.751	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078282.3				T	21689976	G	T	21689976	2	4	68	1	0	0	0	0	0	0	0	1	11495	1132	40	1		1	PAX1	20	21689976	Silent	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10		21689976	41335544	82	4899											
CD93	22918	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	23066500	23066500	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagctgaagcccttcagCggcagactagggtccaggca	10	5	12	14	1	1	2	1	1	0	1	2	2	2	2	3	3	3	3	3	3	2	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr20:23066500C>A	ENST00000246006.4	-	1	477	c.330G>T	c.(328-330)ccG>ccT	p.P110P		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)					AGCCCTTCAGCGGCAGACTAG	0.637																																					p.P110P													.	.			0			c.G330T												19	18	18					20																	23066500		2194	4292	6486	SO:0001819	synonymous_variant	22918	exon1			CTTCAGCGGCAGA	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.330G>T	20.37:g.23066500C>A			99	0	0		58	0.5	29	NM_012072	0		0	O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																					0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078312.2		NM_012072		A	23066500	C	A	23066500	2	1	68	1	0	0	0	0	0	0	0	1	3049	755	27	1		1	CD93	20	23066500	Silent	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10	1376524	23066500	39959020	83	4900											
PIGU	128869	mdanderson.org	37	chr20	33203925	33203925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctaaggcaagaaaaataGcactgaggaaagcactgcct	16	6	10	9	1	0	2	0	1	0	1	1	3	0	3	1	2	3	4	1	2	6	2			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr20:33203925G>T	ENST00000374820.2	-	6	508	c.488C>A	c.(487-489)gCt>gAt	p.A163D	PIGU_ENST00000452740.2_Missense_Mutation_p.A183D|PIGU_ENST00000480175.1_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	183					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AAGAAAAATAGCACTGAGGAA	0.443																																					p.A183D													.	.			0			c.C548A												93	72	79					20																	33203925		2203	4300	6503	SO:0001583	missense	128869	exon7			AAAATAGCACTGA	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.488C>A	20.37:g.33203925G>T	ENSP00000363953:p.Ala163Asp		60	0	0		47	0.06	3	NM_080476	65	0	0	Q7Z489|Q8N2F2	Missense_Mutation	SNP	ENST00000374820.2	37		.	.	.	.	.	.	.	.	.	.	G	20.5	4.003812	0.74932	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	M	0.79258	2.445	0.80722	D	1	D;D;D	0.56746	0.977;0.971;0.977	P;P;P	0.57057	0.812;0.624;0.741	T	0.77778	-0.2460	9	0.52906	T	0.07	.	16.3705	0.83355	0.0:0.0:1.0:0.0	.	183;163;183	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	D	183;163;183	.	ENSP00000217446:A183D	A	-	2	0	PIGU	32667586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.699000	0.74613	2.612000	0.88384	0.591000	0.81541	GCT			0.443	PIGU-201	KNOWN	basic	protein_coding	protein_coding				NM_080476		T	33203925	G	T	33203925	3	4	68	1	0	0	0	0	1	0	0	0	11917	971	34	2	783	2	PIGU	20	33203925	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	10137425	33203925	29821595	84	4901											
LCA5L	150082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	40792705	40792705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagctgctaaagtcttcCgagtctcaatagccagctgc	9	11	9	12	1	3	1	1	1	3	0	5	2	4	1	2	0	5	3	2	0	4	3	rs370952139		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr21:40792705C>T	ENST00000358268.2	-	6	1430	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	LCA5L_ENST00000288350.3_Missense_Mutation_p.R301Q|LCA5L_ENST00000380671.2_Missense_Mutation_p.R301Q			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	301										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TAAAGTCTTCCGAGTCTCAAT	0.393																																					p.R301Q													.	.			0			c.G902A												53	55	54					21																	40792705		2203	4300	6503	SO:0001583	missense	150082	exon6			GTCTTCCGAGTCT	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.902G>A	21.37:g.40792705C>T	ENSP00000351008:p.Arg301Gln		129	0	0		142	0.2	28	NM_152505	0		0	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304911	0.23736	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.76709	-1.04;-1.04;-1.04	5.94	1.97	0.26223	.	0.219778	0.38778	N	0.001564	T	0.70325	0.3211	M	0.62723	1.935	0.37420	D	0.913585	B	0.27971	0.196	B	0.24155	0.051	T	0.64588	-0.6372	10	0.37606	T	0.19	-4.5285	9.1143	0.36748	0.0:0.514:0.0:0.486	.	301	O95447	LCA5L_HUMAN	Q	301	ENSP00000288350:R301Q;ENSP00000370046:R301Q;ENSP00000351008:R301Q	ENSP00000288350:R301Q	R	-	2	0	LCA5L	39714575	0.015000	0.18098	0.558000	0.28319	0.048000	0.14542	-0.990000	0.03732	0.081000	0.16988	0.650000	0.86243	CGG			0.393	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000141807.2		NM_152505		T	40792705	C	T	40792705	3	4	68	1	0	0	0	0	1	0	0	0	8672	652	23	1	1130	1	LCA5L	21	40792705	Missense_Mutation	SNP	C	TCGA-2G-AALP-01A-12D-A42Y-10		40792705	7337190	85	4902											
MGAT3	4248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	39884487	39884487	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtatgggctggacggcAtccgcctgcgccgccgccag	5	6	15	15	5	0	0	0	0	0	0	1	1	1	1	5	3	1	3	5	3	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr22:39884487A>T	ENST00000341184.6	+	2	1350	c.1135A>T	c.(1135-1137)Atc>Ttc	p.I379F		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	379					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)					GCTGGACGGCATCCGCCTGCG	0.642																																					p.I379F													.	.			0			c.A1135T												42	45	44					22																	39884487		2203	4299	6502	SO:0001583	missense	4248	exon2			GACGGCATCCGCC	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.1135A>T	22.37:g.39884487A>T	ENSP00000345270:p.Ile379Phe		65	0	0		39	0.38	15	NM_002409	4	0	0	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	A	12.30	1.897918	0.33535	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	L	0.31294	0.92	0.54753	D	0.999987	P	0.35077	0.483	B	0.36134	0.218	T	0.35871	-0.9771	9	0.09338	T	0.73	.	15.3619	0.74483	1.0:0.0:0.0:0.0	.	379	Q09327	MGAT3_HUMAN	F	379	.	ENSP00000345270:I379F	I	+	1	0	MGAT3	38214433	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.766000	0.91728	2.047000	0.60756	0.454000	0.30748	ATC			0.642	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075039.2		NM_002409		T	39884487	A	T	39884487	3	4	68	1	0	0	0	0	1	0	0	0	9560	217	8	5	1137	5	MGAT3	22	39884487	Missense_Mutation	SNP	A	TCGA-2G-AALP-01A-12D-A42Y-10		39884487	11420079	86	4903											
FANCB	2187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	14868779	14868779	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcttcaccacaaagAggaacaagacattccttcta	13	13	4	11	0	4	2	1	0	3	2	5	3	5	3	2	1	1	0	2	1	4	7			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:14868779A>G	ENST00000324138.3	-	6	1497	c.1344T>C	c.(1342-1344)ccT>ccC	p.P448P	FANCB_ENST00000398334.1_Silent_p.P448P	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	448					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CACCACAAAGAGGAACAAGAC	0.299								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.P448P													.	.			0			c.T1344C												63	51	55					X																	14868779		2203	4299	6502	SO:0001819	synonymous_variant	2187	exon6	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ACAAAGAGGAACA	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1344T>C	X.37:g.14868779A>G			140	0	0		233	0.34	79	NM_152633	5	0.2	1	B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	CCDS14161.1																																																																																					0.299	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055835.1		NM_152633		G	14868779	A	G	14868779	2	3	68	1	0	0	0	0	0	0	0	1	5676	291	11	4		4	FANCB	23	14868779	Silent	SNP	A	TCGA-2G-AALP-01A-12D-A42Y-10		14868779	140401781	87	4904											
PORCN	64840	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	48372918	48372918	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctgcccccagggaccTgacggtgtccaagccactga	7	8	10	16	1	2	2	0	2	2	0	3	3	3	3	5	2	2	0	5	2	1	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:48372918T>G	ENST00000326194.6	+	9	894	c.851T>G	c.(850-852)cTg>cGg	p.L284R	PORCN_ENST00000537758.1_Missense_Mutation_p.L284R|PORCN_ENST00000355961.4_Missense_Mutation_p.L279R|PORCN_ENST00000355092.3_Missense_Mutation_p.L278R|PORCN_ENST00000361988.3_Missense_Mutation_p.L273R|PORCN_ENST00000359882.4_Missense_Mutation_p.L278R|PORCN_ENST00000367574.4_Missense_Mutation_p.L202R	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	284					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCAGGGACCTGACGGTGTCC	0.542																																					p.L284R													.	PORCN	61		0			c.T851G												87	63	71					X																	48372918		2203	4300	6503	SO:0001583	missense	64840	exon9			GGGACCTGACGGT	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.851T>G	X.37:g.48372918T>G	ENSP00000322304:p.Leu284Arg		114	0.0087719298	1		219	0.25	55	NM_203475	25	0.24	6	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621813	0.66787	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.52	5.52	0.82312	.	0.123265	0.53938	D	0.000050	T	0.80476	0.4630	M	0.66939	2.045	0.58432	D	0.999997	D;D;D;D;D	0.67145	0.996;0.961;0.969;0.996;0.996	D;P;P;D;D	0.66351	0.943;0.905;0.905;0.943;0.943	T	0.80379	-0.1407	10	0.41790	T	0.15	-5.3823	12.4536	0.55691	0.0:0.0:0.0:1.0	.	278;284;202;273;279	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	R	278;284;202;279;273;284;278	ENSP00000352946:L278R;ENSP00000446401:L284R;ENSP00000356546:L202R;ENSP00000348233:L279R;ENSP00000354978:L273R;ENSP00000322304:L284R;ENSP00000347207:L278R	ENSP00000322304:L284R	L	+	2	0	PORCN	48257862	1.000000	0.71417	0.991000	0.47740	0.605000	0.37080	7.345000	0.79337	1.847000	0.53656	0.381000	0.24937	CTG			0.542	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000356990.1		NM_022825		G	48372918	T	G	48372918	3	3	68	1	0	0	0	0	1	0	0	0	12275	1580	55	4	885	4	PORCN	23	48372918	Missense_Mutation	SNP	T	TCGA-2G-AALP-01A-12D-A42Y-10	33504139	48372918	106897642	88	4905											
PRICKLE3	4007	hgsc.bcm.edu	37	chrX	49033372	49033372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggcactccagctgcggcGgctcggccctggagctgtgg	3	6	17	15	4	0	0	0	0	0	0	2	1	1	1	3	6	3	4	3	6	0	0			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:49033372G>T	ENST00000376317.3	-	8	1229	c.1135C>A	c.(1135-1137)Cgc>Agc	p.R379S	PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.R298S|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.R311S	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	379				Missing (in Ref. 7; AAB92357). {ECO:0000305}.			zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CAGCTGCGGCGGCTCGGCCCT	0.677																																					p.R379S													.	.			0			c.C1135A												19	17	17					X																	49033372		2201	4297	6498	SO:0001583	missense	4007	exon8			TGCGGCGGCTCGG	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1135C>A	X.37:g.49033372G>T	ENSP00000365494:p.Arg379Ser		66	0	0		99	0.04	4	NM_006150	16	0	0	B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.75|10.75	1.437635|1.437635	0.25900|0.25900	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000453382|ENST00000376317;ENST00000536904;ENST00000540849	.|T;T;T	.|0.68765	.|-0.34;-0.35;-0.35	4.56|4.56	3.62|3.62	0.41486|0.41486	.|.	.|0.000000	.|0.38837	.|N	.|0.001559	T|T	0.51483|0.51483	0.1677|0.1677	N|N	0.24115|0.24115	0.695|0.695	0.38814|0.38814	D|D	0.955473|0.955473	.|P;B;B	.|0.51057	.|0.941;0.158;0.13	.|P;B;B	.|0.46026	.|0.501;0.044;0.022	T|T	0.49153|0.49153	-0.8969|-0.8969	5|10	.|0.26408	.|T	.|0.33	-19.0266|-19.0266	8.1945|8.1945	0.31387|0.31387	0.0:0.0:0.7623:0.2377|0.0:0.0:0.7623:0.2377	.|.	.|341;298;379	.|B7Z6S4;B7Z8F2;O43900	.|.;.;PRIC3_HUMAN	Q|S	391|379;298;311	.|ENSP00000365494:R379S;ENSP00000441385:R298S;ENSP00000446051:R311S	.|ENSP00000365494:R379S	P|R	-|-	2|1	0|0	PRICKLE3|PRICKLE3	48920316|48920316	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.028000|0.028000	0.11728|0.11728	2.172000|2.172000	0.42463|0.42463	2.248000|2.248000	0.74166|0.74166	0.425000|0.425000	0.28330|0.28330	CCG|CGC			0.677	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000060811.1		NM_006150		T	49033372	G	T	49033372	3	4	68	1	0	0	0	0	1	0	0	0	12508	1116	39	1	720	1	PRICKLE3	23	49033372	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	660454	49033372	106237188	89	4906											
FATE1	89885	broad.mit.edu	37	chrX	150891213	150891213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccagcattgccaacctgtgGctgtggatgaaccagtgatc	9	9	12	11	0	0	2	0	2	0	0	1	3	0	3	4	2	4	2	4	2	2	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:150891213G>T	ENST00000370350.3	+	5	619	c.534G>T	c.(532-534)tgG>tgT	p.W178C		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	178						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCAACCTGTGGCTGTGGATGA	0.657																																					p.W178C													.	FATE1	30		0			c.G534T												50	51	51					X																	150891213		2203	4300	6503	SO:0001583	missense	89885	exon5			CCTGTGGCTGTGG	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.534G>T	X.37:g.150891213G>T	ENSP00000359375:p.Trp178Cys		167	0.0119760479	2		212	0.04	9	NM_033085	4	0	0		Missense_Mutation	SNP	ENST00000370350.3	37	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495576	0.44352	.	.	ENSG00000147378	ENST00000370350	T	0.73681	-0.77	4.39	4.39	0.52855	.	0.000000	0.42053	D	0.000768	T	0.78991	0.4371	L	0.36672	1.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.80719	-0.1257	10	0.87932	D	0	-9.5415	11.3766	0.49733	0.0:0.0:1.0:0.0	.	178	Q969F0	FATE1_HUMAN	C	178	ENSP00000359375:W178C	ENSP00000359375:W178C	W	+	3	0	FATE1	150641869	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	4.082000	0.57635	2.161000	0.67846	0.600000	0.82982	TGG			0.657	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060885.1		NM_033085		T	150891213	G	T	150891213	3	4	68	1	0	0	0	0	1	0	0	0	5706	1212	42	2	552	2	FATE1	23	150891213	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	101857841	150891213	4379347	90	4907											
IL9R	3581	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chrX	155239821	155239821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacaacaacaactactgtg	16	3	9	13	0	0	0	0	0	0	0	0	0	0	0	0	0	12	7	0	0	5	1			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:155239821G>A	ENST00000244174.5	+	9	1492	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.S417N	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	438	Poly-Ser.			S -> SS (in Ref. 1; AAA58679 and 4; AAL55435). {ECO:0000305}.	cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					agcagcagcagcaacaacaac	0.642																																					p.S438N													.	.			0			c.G1313A							G	ASN/SER	62,4206		2,58,2074	8	15	13		1313		0	X	dbSNP_134	13	18,8496		0,18,4239	no	missense	IL9R	NM_002186.2	46	2,76,6313	AA,AG,GG		0.2114,1.4527,0.6259		438/522	155239821	80,12702	2134	4257	6391	SO:0001583	missense	3581	exon9			GCAGCAGCAACAA	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1313G>A	X.37:g.155239821G>A	ENSP00000244174:p.Ser438Asn		300	0	0		161	0.05	8	NM_002186	2	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	4.299	0.054780	0.08291	0.014527	0.002114	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.12039	2.72;2.72	.	.	.	.	39.681300	0.00166	N	0.000000	T	0.09730	0.0239	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29912	-0.9996	5	0.52906	T	0.07	.	.	.	.	.	438	Q01113	IL9R_HUMAN	N	438;417	ENSP00000244174:S438N;ENSP00000388918:S417N	ENSP00000244174:S438N	S	+	2	0	IL9R	154893015	0.004000	0.15560	0.015000	0.15790	0.015000	0.08874	0.112000	0.15479	0.099000	0.17552	0.100000	0.15512	AGC	0.01		0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058981.1		NM_002186		A	155239821	G	A	155239821	3	1	68	1	0	0	0	0	1	0	0	0	7723	971	34	2	1347	2	IL9R	23	155239821	Missense_Mutation	SNP	G	TCGA-2G-AALP-01A-12D-A42Y-10	4348608	155239821	30739	91	4908											
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921136	12921136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacctattagaagaggaCttgaagtgtctctcccagtt	11	11	10	9	0	1	3	0	1	1	2	3	4	2	4	2	2	1	2	2	2	5	4	rs368491327	byFrequency	TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr1:12921136C>T	ENST00000240189.2	+	4	1014	c.927C>T	c.(925-927)gaC>gaT	p.D309D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	309					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.D309D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAAGAGGACTTGAAGTGTC	0.498													.|||	12	0.00239617	0.0038	0.0058	5008	,	,		21997	0.001		0.001	False		,,,				2504	0.001				p.D309D													PRAMEF2,pharynx,carcinoma,0,1	PRAMEF2	0	1	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.C927T												131	134	133					1																	12921136		2202	4297	6499	SO:0001819	synonymous_variant	65122	exon4			AGAGGACTTGAAG		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.927C>T	1.37:g.12921136C>T			66	0	0		104	0.06	6	NM_023014	0		0		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																					0.498	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005517.1		NM_023014		T	12921136	C	T	12921136	2	4	69	1	0	0	0	0	0	0	0	1	12455	564	20	3		3	PRAMEF2	1	12921136	Silent	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10		12921136	236329485	1	4909											
PDPN	10630	broad.mit.edu	37	chr1	13910397	13910397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccctctccggggctcctGctcccacccctccggccccc	1	7	7	26	2	1	0	0	0	1	0	6	0	5	0	10	3	1	2	10	3	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr1:13910397G>A	ENST00000294489.6	+	1	438	c.97G>A	c.(97-99)Gct>Act	p.A33T	PDPN_ENST00000487038.1_5'Flank|PDPN_ENST00000376057.4_Missense_Mutation_p.A33T|PDPN_ENST00000509009.1_5'Flank|PDPN_ENST00000376061.4_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000513143.1_5'Flank					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)		CGGGGCTCCTGCTCCCACCCC	0.632																																					p.A33T													.	PDPN	44		0			c.G97A												20	24	22					1																	13910397		2202	4299	6501	SO:0001583	missense	10630	exon1			GCTCCTGCTCCCA	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	ENST00000294489.6:c.97G>A	1.37:g.13910397G>A	ENSP00000294489:p.Ala33Thr		125	0	0		146	0.04	6	NM_006474	63	0	0		Missense_Mutation	SNP	ENST00000294489.6	37	CCDS30602.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.784144	0.31593	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906	T;T;T	0.50813	0.73;0.73;0.73	3.59	0.56	0.17279	.	27.256800	0.00357	N	0.000035	T	0.26448	0.0646	N	0.08118	0	0.21105	N	0.99978	P;P	0.42203	0.773;0.773	B;B	0.36244	0.22;0.22	T	0.24190	-1.0167	10	0.87932	D	0	.	3.3114	0.07017	0.2557:0.2245:0.5198:0.0	.	33;33	Q86YL7-3;Q86YL7-4	.;.	T	33;33;24	ENSP00000294489:A33T;ENSP00000365225:A33T;ENSP00000426302:A24T	ENSP00000294489:A33T	A	+	1	0	PDPN	13782984	0.091000	0.21658	0.032000	0.17829	0.001000	0.01503	1.429000	0.34903	0.304000	0.22809	-0.499000	0.04595	GCT			0.632	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000021783.2		NM_006474		A	13910397	G	A	13910397	3	1	69	1	0	0	0	0	1	0	0	0	11705	1319	46	2	99	2	PDPN	1	13910397	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	989261	13910397	235340224	2	4910											
CSF3R	1441	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	36937224	36937224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acataaccttggatccgtccGctgtcttcctccaggggcac	7	10	9	15	2	1	0	0	0	1	0	5	1	5	1	5	3	1	2	5	3	1	3			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr1:36937224G>A	ENST00000373106.1	-	10	1642	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	CSF3R_ENST00000331941.5_Silent_p.S365S|CSF3R_ENST00000338937.5_Silent_p.S365S|CSF3R_ENST00000373104.1_Silent_p.S365S|CSF3R_ENST00000440588.2_Silent_p.S365S|CSF3R_ENST00000373103.1_Silent_p.S365S|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Silent_p.S365S|CSF3R_ENST00000361632.4_Silent_p.S365S	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	365	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)	GGATCCGTCCGCTGTCTTCCT	0.597																																					p.S365S													.	.			0			c.C1095T												74	76	75					1																	36937224		2203	4300	6503	SO:0001819	synonymous_variant	1441	exon10			CCGTCCGCTGTCT	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.1095C>T	1.37:g.36937224G>A			114	0	0		110	0.05	6	NM_156039	7	0	0		Silent	SNP	ENST00000373106.1	37	CCDS413.1																																																																																					0.597	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021997.2		NM_156039		A	36937224	G	A	36937224	2	1	69	1	0	0	0	0	0	0	0	1	3939	1078	38	1		1	CSF3R	1	36937224	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	23026827	36937224	212313397	3	4911											
KPRP	448834	broad.mit.edu	37	chr1	152733728	152733728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgtttccagagcggaGgggtcaggatggccatggag	8	9	18	6	1	1	2	1	1	0	1	2	5	2	5	2	6	1	1	2	6	0	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr1:152733728G>A	ENST00000606109.1	+	1	1692	c.1664G>A	c.(1663-1665)aGg>aAg	p.R555K	KPRP_ENST00000368773.1_Missense_Mutation_p.R555K			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	555						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGCGGAGGGGTCAGGAT	0.542																																					p.R555K													.	KPRP	152		0			c.G1664A												77	71	73					1																	152733728		2203	4300	6503	SO:0001583	missense	448834	exon2			AGCGGAGGGGTCA	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1664G>A	1.37:g.152733728G>A	ENSP00000475216:p.Arg555Lys		121	0	0		139	0.04	5	NM_001025231	0		0		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	6.785	0.513786	0.12944	.	.	ENSG00000203786	ENST00000368773	T	0.13307	2.6	3.93	-3.85	0.04243	.	1.838530	0.03164	N	0.169791	T	0.03053	0.0090	L	0.34521	1.04	0.09310	N	1	B	0.28291	0.206	B	0.25140	0.058	T	0.34502	-0.9826	10	0.27785	T	0.31	0.7769	9.1184	0.36773	0.6469:0.0:0.3531:0.0	.	555	Q5T749	KPRP_HUMAN	K	555	ENSP00000357762:R555K	ENSP00000357762:R555K	R	+	2	0	KPRP	151000352	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.057000	0.03486	-0.900000	0.03896	0.313000	0.20887	AGG			0.542	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034522.2		NM_001025231		A	152733728	G	A	152733728	3	1	69	1	0	0	0	0	1	0	0	0	8451	1000	35	3	1666	3	KPRP	1	152733728	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	115796504	152733728	96516893	4	4912											
CD1E	913	hgsc.bcm.edu;mdanderson.org	37	chr1	158325337	158325337	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggggctcatggaagcaggGgagtcagaactgaaacggaa	13	4	17	7	2	2	2	2	1	0	1	2	5	2	5	0	6	3	2	0	6	4	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr1:158325337G>T	ENST00000368167.3	+	3	842	c.603G>T	c.(601-603)ggG>ggT	p.G201G	CD1E_ENST00000368161.3_Silent_p.G201G|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Silent_p.G201G|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Silent_p.G102G|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000434258.1_Silent_p.G199G|CD1E_ENST00000368163.3_Silent_p.G201G	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	201	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGAAGCAGGGGAGTCAGAAC	0.453																																					p.G201G													.	.			0			c.G603T												44	44	44					1																	158325337		1926	4134	6060	SO:0001819	synonymous_variant	913	exon3			AGCAGGGGAGTCA	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.603G>T	1.37:g.158325337G>T			56	0	0		86	0.05	4	NM_001042584	2	0	0	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	CCDS41417.1																																																																																					0.453	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000046353.3		NM_030893		T	158325337	G	T	158325337	2	4	69	1	0	0	0	0	0	0	0	1	2980	1219	43	3		3	CD1E	1	158325337	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	5591609	158325337	90925284	5	4913											
RIF1	55183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152321277	152321277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaggaaaagtcactcattgGgttaaagaatacagaaaata	19	9	8	5	0	3	2	3	0	0	2	3	3	3	3	0	2	1	1	0	2	9	4			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr2:152321277G>C	ENST00000243326.5	+	29	5726	c.5243G>C	c.(5242-5244)gGg>gCg	p.G1748A	RIF1_ENST00000428287.2_Missense_Mutation_p.G1748A|RIF1_ENST00000444746.2_Missense_Mutation_p.G1748A|RIF1_ENST00000453091.2_Missense_Mutation_p.G1748A|RIF1_ENST00000430328.2_Missense_Mutation_p.G1748A			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)	p.I1747_N1754del(1)		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)		TCACTCATTGGGTTAAAGAAT	0.408																																					p.G1748A													.	.			1	Deletion - In frame(1)	lung(1)	c.G5243C												42	44	43					2																	152321277		2203	4298	6501	SO:0001583	missense	55183	exon30			TCATTGGGTTAAA	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.5243G>C	2.37:g.152321277G>C	ENSP00000243326:p.Gly1748Ala		107	0	0		143	0.3	43	NM_018151	7	0.57	4	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	4.585	0.108612	0.08780	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10192	2.91;2.9;2.9;2.91;2.9	5.24	1.0	0.19881	.	0.650776	0.16150	N	0.227295	T	0.07638	0.0192	L	0.34521	1.04	0.09310	N	1	P;P	0.46512	0.807;0.879	B;P	0.45639	0.294;0.488	T	0.18304	-1.0341	10	0.33141	T	0.24	-1.1988	0.1159	0.00060	0.2617:0.1758:0.2533:0.3093	.	1748;1748	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	1748	ENSP00000390181:G1748A;ENSP00000414615:G1748A;ENSP00000415691:G1748A;ENSP00000243326:G1748A;ENSP00000416123:G1748A	ENSP00000243326:G1748A	G	+	2	0	RIF1	152029523	0.973000	0.33851	0.772000	0.31596	0.182000	0.23217	0.648000	0.24828	0.554000	0.29061	0.505000	0.49811	GGG			0.408	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254836.3				C	152321277	G	C	152321277	3	2	69	1	0	0	0	0	1	0	0	0	13382	1232	43	5	5357	5	RIF1	2	152321277	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		152321277	90878096	6	4914											
ZDBF2	57683	mdanderson.org	37	chr2	207162013	207162013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgaccagacagagtaGacgtcaaatatgtaccagta	15	9	10	7	1	1	4	1	1	0	3	1	5	1	4	2	0	1	4	2	0	5	5			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr2:207162013G>T	ENST00000374423.3	+	4	490	c.104G>T	c.(103-105)aGa>aTa	p.R35I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	35							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						AGACAGAGTAGACGTCAAATA	0.383																																					p.R35I													.	.			0			c.G104T												128	116	119					2																	207162013		1871	4120	5991	SO:0001583	missense	57683	exon4			AGAGTAGACGTCA	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.104G>T	2.37:g.207162013G>T	ENSP00000363545:p.Arg35Ile		75	0	0		112	0.04	5	NM_020923	3	0	0	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047097	0.75846	.	.	ENSG00000204186	ENST00000374423	T	0.54675	0.56	4.73	4.73	0.59995	Zinc finger, DBF-type (1);	.	.	.	.	T	0.63117	0.2484	L	0.32530	0.975	0.31898	N	0.616309	D	0.89917	1.0	D	0.91635	0.999	T	0.68561	-0.5376	9	0.87932	D	0	.	14.9649	0.71184	0.0:0.0:1.0:0.0	.	35	Q9HCK1	ZDBF2_HUMAN	I	35	ENSP00000363545:R35I	ENSP00000363545:R35I	R	+	2	0	ZDBF2	206870258	1.000000	0.71417	0.113000	0.21522	0.192000	0.23643	6.028000	0.70889	2.341000	0.79615	0.484000	0.47621	AGA			0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336458.1		NM_020923		T	207162013	G	T	207162013	3	4	69	1	0	0	0	0	1	0	0	0	17622	942	33	3	110	3	ZDBF2	2	207162013	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	54840736	207162013	36037360	7	4915											
IRS1	3667	broad.mit.edu;mdanderson.org	37	chr2	227662443	227662443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtccaccgaggctgggcGggacatggtgccttcgccgt	4	7	16	14	5	0	0	0	0	0	0	2	2	1	1	5	4	1	1	5	4	0	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr2:227662443G>A	ENST00000305123.5	-	1	2032	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	338	Ser-rich.				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)		GAGGCTGGGCGGGACATGGTG	0.711											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R338C													.	IRS1	141		0			c.C1012T												49	55	53					2																	227662443		2196	4281	6477	SO:0001583	missense	3667	exon1			CTGGGCGGGACAT		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.1012C>T	2.37:g.227662443G>A	ENSP00000304895:p.Arg338Cys		17	0	0	2321	10	0.4	4	NM_005544	16	0.44	7		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061859	0.55432	.	.	ENSG00000169047	ENST00000305123	T	0.62788	-0.0	5.66	4.76	0.60689	.	0.000000	0.64402	D	0.000001	T	0.75451	0.3851	M	0.64404	1.975	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.77067	-0.2725	10	0.59425	D	0.04	-21.1424	12.8597	0.57906	0.0:0.0:0.5535:0.4465	.	338	P35568	IRS1_HUMAN	C	338	ENSP00000304895:R338C	ENSP00000304895:R338C	R	-	1	0	IRS1	227370687	1.000000	0.71417	0.978000	0.43139	0.671000	0.39405	4.951000	0.63610	1.340000	0.45581	0.462000	0.41574	CGC			0.711	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256886.3		NM_005544		A	227662443	G	A	227662443	3	1	69	1	0	0	0	0	1	0	0	0	7855	1116	39	1	2720	1	IRS1	2	227662443	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	20500430	227662443	15536930	8	4916											
USP4	7375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49318243	49318243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtacacataaggccttgCtgacaggttacagacaaact	13	9	9	10	1	0	2	0	1	0	1	1	2	0	2	1	2	4	3	1	2	4	4			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr3:49318243C>G	ENST00000265560.4	-	20	2624	c.2578G>C	c.(2578-2580)Gca>Cca	p.A860P	USP4_ENST00000351842.4_Missense_Mutation_p.A813P|C3orf62_ENST00000343010.3_5'Flank	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	860	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGGCCTTGCTGACAGGTTA	0.423																																					p.A860P													.	.			0			c.G2578C												152	125	134					3																	49318243		2203	4300	6503	SO:0001583	missense	7375	exon20			GCCTTGCTGACAG	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2578G>C	3.37:g.49318243C>G	ENSP00000265560:p.Ala860Pro		84	0	0		79	0.32	25	NM_003363	85	0.4	34	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.294404|4.294404	0.81025|0.81025	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000351842;ENST00000265560|ENST00000431357	T;T|T	0.31769|0.03065	1.48;1.48|4.06	5.58|5.58	5.58|5.58	0.84498|0.84498	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.051328|.	0.85682|.	D|.	0.000000|.	T|T	0.10465|0.10465	0.0256|0.0256	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	D;B;D|.	0.63880|.	0.993;0.055;0.988|.	P;B;P|.	0.58820|.	0.815;0.035;0.846|.	T|T	0.01591|0.01591	-1.1317|-1.1317	10|7	0.33141|0.51188	T|T	0.24|0.08	-4.303|-4.303	18.1481|18.1481	0.89665|0.89665	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	813;860;860|.	Q13107-2;Q13107;Q08AK7|.	.;UBP4_HUMAN;.|.	P|T	813;860|598	ENSP00000341028:A813P;ENSP00000265560:A860P|ENSP00000399079:S598T	ENSP00000265560:A860P|ENSP00000399079:S598T	A|S	-|-	1|2	0|0	USP4|USP4	49293247|49293247	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.884000|0.884000	0.51177|0.51177	6.033000|6.033000	0.70925|0.70925	2.629000|2.629000	0.89072|0.89072	0.563000|0.563000	0.77884|0.77884	GCA|AGC			0.423	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346069.1		NM_199443		G	49318243	C	G	49318243	3	3	69	1	0	0	0	0	1	0	0	0	17095	797	28	5	325	5	USP4	3	49318243	Missense_Mutation	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10		49318243	148704187	9	4917											
BRD9	65980	mdanderson.org	37	chr5	865672	865672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcaaatggctgtcgtcaGggtccagctccttcttcacc	7	12	9	13	1	4	0	3	0	1	0	7	0	6	0	3	2	1	3	3	2	1	3			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr5:865672G>T	ENST00000467963.1	-	15	1716	c.1550C>A	c.(1549-1551)cCt>cAt	p.P517H	BRD9_ENST00000323510.4_Missense_Mutation_p.P421H|BRD9_ENST00000388890.4_Missense_Mutation_p.P401H|BRD9_ENST00000483173.1_Missense_Mutation_p.P464H	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	517					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCTGTCGTCAGGGTCCAGCTC	0.627																																					p.P517H													.	.			0			c.C1550A												174	171	172					5																	865672		2203	4300	6503	SO:0001583	missense	65980	exon15			TCGTCAGGGTCCA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1550C>A	5.37:g.865672G>T	ENSP00000419765:p.Pro517His		19	0	0		21	0.1	2	NM_023924	57	0	0	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	g	1.791	-0.479623	0.04383	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.36	-6.16	0.02098	.	0.507714	0.23407	N	0.048514	T	0.11707	0.0285	N	0.01267	-0.92	0.19575	N	0.999966	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.21759	-1.0236	10	0.22706	T	0.39	.	10.4274	0.44387	0.0:0.1246:0.5687:0.3067	.	464;517;421;401	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	H	421;401;464;517	ENSP00000323557:P421H;ENSP00000373542:P401H;ENSP00000419845:P464H;ENSP00000419765:P517H	ENSP00000323557:P421H	P	-	2	0	BRD9	918672	0.961000	0.32948	0.001000	0.08648	0.030000	0.12068	1.626000	0.37039	-1.471000	0.01886	-1.086000	0.02197	CCT			0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354113.1		NM_023924		T	865672	G	T	865672	3	4	69	1	0	0	0	0	1	0	0	0	1509	1000	35	3	251	3	BRD9	5	865672	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		865672	180049588	10	4918											
IRX2	153572	mdanderson.org	37	chr5	2751510	2751510	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgcctggtacaggtaGccctgcgggtaggacatggt	6	7	17	11	3	0	0	0	0	0	0	0	1	0	1	3	6	3	3	3	6	3	3			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr5:2751510G>T	ENST00000382611.6	-	1	266	c.18C>A	c.(16-18)ggC>ggA	p.G6G	IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000302057.5_Silent_p.G6G|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000515640.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	6					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)		GGTACAGGTAGCCCTGCGGGT	0.796																																					p.G6G													.	.			0			c.C18A												2	2	2					5																	2751510		1357	2978	4335	SO:0001819	synonymous_variant	153572	exon1			CAGGTAGCCCTGC	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.18C>A	5.37:g.2751510G>T			8	0	0		12	0.17	2	NM_001134222	0		0	Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	CCDS3868.1																																																																																					0.796	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206749.2				T	2751510	G	T	2751510	2	4	69	1	0	0	0	0	0	0	0	1	7859	958	34	2		2	IRX2	5	2751510	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	1885838	2751510	178163750	11	4919											
IRX1	79192	broad.mit.edu;mdanderson.org	37	chr5	3600194	3600194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccaactggaccaacagcGcattcctcgcacagggctcc	9	7	8	17	2	1	0	0	0	1	0	5	1	3	1	4	2	3	3	4	2	2	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr5:3600194G>A	ENST00000302006.3	+	2	1184	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	378					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)	p.A378T(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCAACAGCGCATTCCTCGC	0.687																																					p.A378T													IRX1,rectum,carcinoma,0,1	IRX1	106	1	1	Substitution - Missense(1)	large_intestine(1)	c.G1132A												49	41	43					5																	3600194		2201	4300	6501	SO:0001583	missense	79192	exon2			AACAGCGCATTCC	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1132G>A	5.37:g.3600194G>A	ENSP00000305244:p.Ala378Thr		198	0	0		133	0.04	5	NM_024337	22	0	0	Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895790	0.52121	.	.	ENSG00000170549	ENST00000302006	T	0.64438	-0.1	4.3	4.3	0.51218	.	0.055128	0.64402	D	0.000001	T	0.77691	0.4168	M	0.70275	2.135	0.53688	D	0.999973	D	0.89917	1.0	D	0.83275	0.996	T	0.78568	-0.2154	10	0.40728	T	0.16	.	16.7647	0.85521	0.0:0.0:1.0:0.0	.	378	P78414	IRX1_HUMAN	T	378	ENSP00000305244:A378T	ENSP00000305244:A378T	A	+	1	0	IRX1	3653194	1.000000	0.71417	0.995000	0.50966	0.113000	0.19764	6.847000	0.75404	1.900000	0.55004	0.563000	0.77884	GCA			0.687	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365546.1		NM_024337		A	3600194	G	A	3600194	3	1	69	1	0	0	0	0	1	0	0	0	7858	1087	38	1	1138	1	IRX1	5	3600194	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	848684	3600194	177315066	12	4920											
RGNEF	64283	mdanderson.org	37	chr5	73205560	73205560	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccggggcgagctggacctCcagctccaggagtaccagca	9	4	14	14	2	0	0	0	0	0	0	2	3	2	2	5	4	5	4	5	4	1	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr5:73205560C>A	ENST00000426542.2	+	33	4505	c.4485C>A	c.(4483-4485)ctC>ctA	p.L1495L	ARHGEF28_ENST00000512883.1_Silent_p.L415L|ARHGEF28_ENST00000437974.1_Silent_p.L1495L|ARHGEF28_ENST00000296794.6_Silent_p.L1495L|ARHGEF28_ENST00000296799.4_Silent_p.L1182L|ARHGEF28_ENST00000287898.5_Silent_p.L1451L|ARHGEF28_ENST00000513042.2_Silent_p.L1495L|ARHGEF28_ENST00000545377.1_Silent_p.L1495L			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1495	Interaction with microtubules. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										AGCTGGACCTCCAGCTCCAGG	0.726																																					p.L1495L													.	.			0			c.C4485A												3	5	4					5																	73205560		1810	3811	5621	SO:0001819	synonymous_variant	64283	exon34			GGACCTCCAGCTC		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4485C>A	5.37:g.73205560C>A			21	0	0		19	0.16	3	NM_001177693	7	0	0	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																					0.726	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000368975.1				A	73205560	C	A	73205560	2	1	69	1	0	0	0	0	0	0	0	1	13306	842	30	3		3	RGNEF	5	73205560	Silent	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	69605366	73205560	107709700	13	4921											
ERAP1	51752	hgsc.bcm.edu;bcgsc.ca	37	chr5	96119761	96119761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagggataaatccaaggccTtttcaatggacagcttccca	13	9	8	11	0	1	0	1	0	0	0	3	2	3	2	3	3	1	1	3	3	4	4			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr5:96119761T>C	ENST00000443439.2	-	14	2033	c.1967A>G	c.(1966-1968)aAg>aGg	p.K656R	ERAP1_ENST00000296754.3_Missense_Mutation_p.K656R|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|CTD-2260A17.1_ENST00000602972.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	656					angiogenesis (GO:0001525)|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)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		ATCCAAGGCCTTTTCAATGGA	0.363																																					p.K656R													.	.			0			c.A1967G												105	101	102					5																	96119761		2203	4300	6503	SO:0001583	missense	51752	exon14			AAGGCCTTTTCAA	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1967A>G	5.37:g.96119761T>C	ENSP00000406304:p.Lys656Arg		107	0	0		83	0.05	4	NM_001198541	16	0	0	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926977	0.52759	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.05199	3.48;3.48	5.68	5.68	0.88126	.	0.143883	0.64402	D	0.000008	T	0.11836	0.0288	L	0.60904	1.88	0.50171	D	0.999856	B;P;P	0.46395	0.086;0.764;0.877	B;P;B	0.46389	0.042;0.515;0.38	T	0.16778	-1.0391	10	0.21540	T	0.41	.	15.5946	0.76569	0.0:0.0:0.0:1.0	.	656;656;656	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	R	656	ENSP00000296754:K656R;ENSP00000406304:K656R	ENSP00000296754:K656R	K	-	2	0	ERAP1	96145517	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.732000	0.55021	2.172000	0.68678	0.533000	0.62120	AAG			0.363	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370699.1		NM_016442		C	96119761	T	C	96119761	3	2	69	1	0	0	0	0	1	0	0	0	5210	1609	56	4	915	4	ERAP1	5	96119761	Missense_Mutation	SNP	T	TCGA-2G-AALQ-01A-12D-A42Y-10	22914201	96119761	84795499	14	4922											
ALDH5A1	7915	ucsc.edu;bcgsc.ca	37	chr6	24520647	24520647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcctgttgcaccacgcaGcaaactctgtgaaaagggtc	12	8	10	11	1	1	2	0	1	1	1	3	2	2	2	2	1	3	4	2	1	3	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr6:24520647G>A	ENST00000357578.3	+	6	1034	c.889G>A	c.(889-891)Gca>Aca	p.A297T	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.A310T|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.A269T|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.A209T	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	297					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)	GCACCACGCAGCAAACTCTGT	0.478																																					p.A310T													.	ALDH5A1	42		0			c.G928A												131	141	137					6																	24520647		2203	4300	6503	SO:0001583	missense	7915	exon7			CACGCAGCAAACT	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.889G>A	6.37:g.24520647G>A	ENSP00000350191:p.Ala297Thr		57	0	0		41	0.1	4	NM_170740	19	0	0	B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152267	0.94645	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.5	5.5	0.81552	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91338	0.5095	10	0.87932	D	0	-18.7045	19.6014	0.95563	0.0:0.0:1.0:0.0	.	297;310	P51649;G5E949	SSDH_HUMAN;.	T	297;209;269;310	ENSP00000350191:A297T;ENSP00000438193:A209T;ENSP00000417687:A269T;ENSP00000314649:A310T	ENSP00000314649:A310T	A	+	1	0	ALDH5A1	24628626	1.000000	0.71417	0.932000	0.37286	0.867000	0.49689	9.513000	0.98010	2.854000	0.98071	0.655000	0.94253	GCA			0.478	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040007.2				A	24520647	G	A	24520647	3	1	69	1	0	0	0	0	1	0	0	0	502	971	34	2	954	2	ALDH5A1	6	24520647	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		24520647	146594420	15	4923											
C6orf27	80737	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	31740800	31740800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctccgctgctccacaaGgtggcgagcctggattttgg	5	10	13	13	2	1	0	0	0	1	0	3	2	2	1	4	4	2	2	4	4	1	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr6:31740800G>T	ENST00000375688.4	-	7	1218	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	VWA7_ENST00000375686.3_Missense_Mutation_p.L340I|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.L340I			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	340	VWFA.					extracellular region (GO:0005576)											TGCTCCACAAGGTGGCGAGCC	0.602																																					p.L340I													.	.			0			c.C1018A												49	40	43					6																	31740800		1510	2709	4219	SO:0001583	missense	80737	exon7			CCACAAGGTGGCG		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.1018C>A	6.37:g.31740800G>T	ENSP00000364840:p.Leu340Ile		45	0	0		36	0.17	6	NM_025258	3	0	0	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	1.675	-0.507871	0.04231	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	D;D;D	0.98280	-4.84;-4.84;-4.84	5.74	5.74	0.90152	von Willebrand factor, type A (1);	0.000000	0.85682	N	0.000000	T	0.72293	0.3442	N	0.00056	-2.365	0.23765	N	0.9969	B	0.02656	0.0	B	0.01281	0.0	T	0.65315	-0.6198	10	0.02654	T	1	-8.7759	11.4371	0.50074	0.0:0.0:0.1514:0.8486	.	340	Q9Y334	G7C_HUMAN	I	340	ENSP00000364840:L340I;ENSP00000364838:L340I;ENSP00000390554:L340I	ENSP00000364838:L340I	L	-	1	0	C6orf27	31848779	1.000000	0.71417	0.893000	0.35052	0.042000	0.13812	4.106000	0.57804	1.003000	0.39130	-0.374000	0.07098	CTT			0.602	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076233.2		NM_025258		T	31740800	G	T	31740800	3	4	69	1	0	0	0	0	1	0	0	0	2364	1000	35	3	1700	3	C6orf27	6	31740800	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	7220153	31740800	139374267	16	4924											
RDBP	7936	mdanderson.org	37	chr6	31922451	31922451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtctctgtctcgatccCggtctcgatcccgctcccga	3	12	8	18	5	4	0	0	0	4	0	10	3	7	0	3	1	0	1	3	1	0	0	rs377559803|rs559007998|rs556062290	byFrequency	TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr6:31922451C>T	ENST00000375429.3	-	7	849	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	NELFE_ENST00000375425.5_Missense_Mutation_p.R215Q|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Missense_Mutation_p.R178Q	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	208	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R208_D211delRDRD(1)									gtctcgatcccggtctcgatc	0.672													C|||	1	0.000199681	0	0	5008	,	,		18138	0.001		0	False		,,,				2504	0				p.R208Q													.	.			1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	c.G623A												38	36	37					6																	31922451		2203	4299	6502	SO:0001583	missense	7936	exon7			CGATCCCGGTCTC	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.623G>A	6.37:g.31922451C>T	ENSP00000364578:p.Arg208Gln		95	0	0		92	0.04	4	NM_002904	316	0	0	A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644297	0.03531	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	1.42	0.467	0.16721	.	0.267390	0.27792	N	0.017824	T	0.33962	0.0881	M	0.87547	2.89	0.09310	N	1	B;B;B;B	0.25235	0.037;0.015;0.121;0.037	B;B;B;B	0.09377	0.002;0.002;0.004;0.002	T	0.37572	-0.9700	10	0.54805	T	0.06	-0.6062	3.7352	0.08508	0.0:0.7268:0.0:0.2732	.	178;203;203;208	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	Q	208;215;178;203;208;203	ENSP00000364578:R208Q;ENSP00000364574:R215Q;ENSP00000388400:R178Q;ENSP00000397914:R203Q;ENSP00000409389:R208Q;ENSP00000414029:R203Q	ENSP00000364574:R215Q	R	-	2	0	RDBP	32030430	0.031000	0.19500	0.001000	0.08648	0.115000	0.19883	2.529000	0.45632	-0.247000	0.09597	-0.244000	0.11960	CGG			0.672	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000076047.4				T	31922451	C	T	31922451	3	4	69	1	0	0	0	0	1	0	0	0	13211	652	23	1	539	1	RDBP	6	31922451	Missense_Mutation	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	181651	31922451	139192616	17	4925											
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	65596686	65596686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattttacatttatttacatCaagttcacagaagggcccat	13	14	6	8	0	2	1	2	0	0	1	2	2	2	1	1	1	2	1	1	1	5	7			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr6:65596686C>G	ENST00000370621.3	-	19	3422	c.2896G>C	c.(2896-2898)Gat>Cat	p.D966H	EYS_ENST00000503581.1_Missense_Mutation_p.D966H|EYS_ENST00000370616.2_Missense_Mutation_p.D966H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	966	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTATTTACATCAAGTTCACAG	0.378																																					p.D966H													.	.			0			c.G2896C												141	118	125					6																	65596686		692	1590	2282	SO:0001583	missense	346007	exon19			TTACATCAAGTTC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2896G>C	6.37:g.65596686C>G	ENSP00000359655:p.Asp966His		122	0	0		85	0.4	34	NM_001142800	0		0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	11.12	1.545261	0.27652	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.87334	-2.24;-2.24;-2.24	4.08	-3.73	0.04398	.	.	.	.	.	T	0.60958	0.2309	L	0.46819	1.47	0.26740	N	0.970403	B	0.12630	0.006	B	0.09377	0.004	T	0.44651	-0.9314	9	0.54805	T	0.06	.	1.1023	0.01687	0.141:0.3163:0.2765:0.2663	.	966	Q5T1H1-1	.	H	966	ENSP00000424243:D966H;ENSP00000359655:D966H;ENSP00000359650:D966H	ENSP00000359650:D966H	D	-	1	0	EYS	65653407	0.318000	0.24598	0.000000	0.03702	0.008000	0.06430	0.463000	0.21972	-1.272000	0.02427	0.462000	0.41574	GAT			0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351351.3		XM_294050		G	65596686	C	G	65596686	3	3	69	1	0	0	0	0	1	0	0	0	5339	826	29	5	6483	5	EYS	6	65596686	Missense_Mutation	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	33674235	65596686	105518381	18	4926											
ZNF292	23036	mdanderson.org	37	chr6	87966328	87966328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagaaaagaacaagattGctttaatgatgcccatgtta	16	10	10	5	0	0	4	0	1	0	3	0	6	0	5	1	1	3	2	1	1	6	4			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr6:87966328G>T	ENST00000369577.3	+	8	3024	c.2981G>T	c.(2980-2982)tGc>tTc	p.C994F	ZNF292_ENST00000339907.4_Missense_Mutation_p.C989F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	994						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)		GAACAAGATTGCTTTAATGAT	0.393																																					p.C994F													.	.			0			c.G2981T												89	86	87					6																	87966328		1870	4093	5963	SO:0001583	missense	23036	exon8			AAGATTGCTTTAA	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.2981G>T	6.37:g.87966328G>T	ENSP00000358590:p.Cys994Phe		50	0	0		50	0.06	3	NM_015021	3	0	0	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	9.581	1.123597	0.20959	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07444	3.19;3.2	5.25	5.25	0.73442	.	0.413247	0.31392	N	0.007732	T	0.06416	0.0165	L	0.50333	1.59	0.45087	D	0.998106	D	0.56035	0.974	P	0.45913	0.497	T	0.42498	-0.9448	10	0.12430	T	0.62	.	19.19	0.93663	0.0:0.0:1.0:0.0	.	994	O60281	ZN292_HUMAN	F	994;989	ENSP00000358590:C994F;ENSP00000342847:C989F	ENSP00000342847:C989F	C	+	2	0	ZNF292	88023047	0.997000	0.39634	0.998000	0.56505	0.134000	0.20937	2.679000	0.46909	2.612000	0.88384	0.591000	0.81541	TGC			0.393	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000376192.2		NM_015021		T	87966328	G	T	87966328	3	4	69	1	0	0	0	0	1	0	0	0	17849	1319	46	2	3011	2	ZNF292	6	87966328	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	22369642	87966328	83148739	19	4927											
SAMD5	389432	mdanderson.org	37	chr6	147830332	147830332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccgcccgccgacgccGtccccaccggccgccggggg	2	1	16	22	9	0	0	0	0	0	0	1	1	1	0	10	4	0	0	10	4	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr6:147830332G>T	ENST00000367474.1	+	1	270	c.268G>T	c.(268-270)Gtc>Ttc	p.V90F		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	90													Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		cgccgacgccgtccccaccgg	0.821																																					p.V90F													.	.			0			c.G268T												1	1	1					6																	147830332		513	1172	1685	SO:0001583	missense	389432	exon1			GACGCCGTCCCCA	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.268G>T	6.37:g.147830332G>T	ENSP00000356444:p.Val90Phe		14	0	0		12	0.17	2	NM_001030060	0		0		Missense_Mutation	SNP	ENST00000367474.1	37	CCDS34548.1	.	.	.	.	.	.	.	.	.	.	G	4.427	0.078981	0.08533	.	.	ENSG00000203727	ENST00000367474	T	0.66460	-0.21	3.55	0.594	0.17485	.	0.759301	0.11074	U	0.602548	T	0.26048	0.0635	L	0.40543	1.245	0.09310	N	1	P	0.37781	0.608	B	0.35470	0.203	T	0.13388	-1.0511	10	0.11794	T	0.64	-15.8074	4.449	0.11611	0.2215:0.3569:0.4216:0.0	.	90	Q5TGI4	SAMD5_HUMAN	F	90	ENSP00000356444:V90F	ENSP00000356444:V90F	V	+	1	0	SAMD5	147872025	0.001000	0.12720	0.001000	0.08648	0.100000	0.18952	-0.542000	0.06091	0.189000	0.20188	0.305000	0.20034	GTC			0.821	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042610.1		NM_001030060		T	147830332	G	T	147830332	3	4	69	1	0	0	0	0	1	0	0	0	13846	1145	40	1	270	1	SAMD5	6	147830332	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	59864004	147830332	23284735	20	4928											
LMTK2	22853	mdanderson.org	37	chr7	97823823	97823823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacccactgcccgaggactGgaagaaggaaaagaaggcag	15	2	14	10	2	0	2	0	0	0	2	0	7	0	5	2	4	1	1	2	4	5	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr7:97823823G>T	ENST00000297293.5	+	11	4339	c.4046G>T	c.(4045-4047)tGg>tTg	p.W1349L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1349					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCGAGGACTGGAAGAAGGAA	0.532																																					p.W1349L													.	.			0			c.G4046T												96	85	89					7																	97823823		2203	4300	6503	SO:0001583	missense	22853	exon11			AGGACTGGAAGAA	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4046G>T	7.37:g.97823823G>T	ENSP00000297293:p.Trp1349Leu		31	0	0		34	0.09	3	NM_014916	10	0	0	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788068	0.31593	.	.	ENSG00000164715	ENST00000297293	T	0.73258	-0.73	5.86	4.98	0.66077	.	0.616358	0.18327	N	0.144620	T	0.48960	0.1529	N	0.16743	0.435	0.09310	N	1	B	0.30763	0.294	B	0.22152	0.038	T	0.29852	-0.9998	10	0.13470	T	0.59	.	10.0391	0.42146	0.1512:0.0:0.8488:0.0	.	1349	Q8IWU2	LMTK2_HUMAN	L	1349	ENSP00000297293:W1349L	ENSP00000297293:W1349L	W	+	2	0	LMTK2	97661759	0.881000	0.30235	0.243000	0.24186	0.849000	0.48306	1.882000	0.39648	1.489000	0.48450	0.655000	0.94253	TGG			0.532	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334560.1		NM_014916		T	97823823	G	T	97823823	3	4	69	1	0	0	0	0	1	0	0	0	8874	1357	47	3	4088	3	LMTK2	7	97823823	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		97823823	61314840	21	4929											
TMEM209	84928	broad.mit.edu	37	chr7	129843940	129843940	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagcactagggtgtgccTccccctgcatctatgaaaaa	11	8	11	11	0	1	1	0	1	1	0	2	2	2	2	3	2	3	2	3	2	5	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr7:129843940T>C	ENST00000397622.2	-	2	136	c.14A>G	c.(13-15)gAg>gGg	p.E5G	TMEM209_ENST00000336804.8_Missense_Mutation_p.E4G|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Missense_Mutation_p.E4G|TMEM209_ENST00000473456.1_Missense_Mutation_p.E5G	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	5						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AGGGTGTGCCTCCCCCTGCAT	0.403																																					p.E5G													.	TMEM209	31		0			c.A14G												79	69	72					7																	129843940		1864	4077	5941	SO:0001583	missense	84928	exon2			TGTGCCTCCCCCT		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.14A>G	7.37:g.129843940T>C	ENSP00000380747:p.Glu5Gly		54	0.0185185185	1		61	0.05	3	NM_032842	4	0	0	A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345358	0.41498	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985;ENST00000471077	T;T;T;T;T	0.36340	1.29;1.32;1.26;1.29;2.28	5.66	5.66	0.87406	.	0.355072	0.34676	N	0.003773	T	0.27278	0.0669	N	0.24115	0.695	0.32747	N	0.506876	B;B;B	0.25609	0.122;0.13;0.018	B;B;B	0.25405	0.06;0.022;0.025	T	0.28964	-1.0027	10	0.30078	T	0.28	-8.6705	15.3831	0.74676	0.0:0.0:0.0:1.0	.	5;5;5	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	G	5;4;5;4;5;48;4	ENSP00000380747:E5G;ENSP00000419697:E4G;ENSP00000417258:E5G;ENSP00000338388:E4G;ENSP00000419852:E48G	ENSP00000338388:E4G	E	-	2	0	TMEM209	129631176	0.971000	0.33674	0.903000	0.35520	0.146000	0.21551	3.683000	0.54663	2.285000	0.76669	0.533000	0.62120	GAG			0.403	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000349339.1		NM_032842		C	129843940	T	C	129843940	3	2	69	1	0	0	0	0	1	0	0	0	16157	1551	54	4	1727	4	TMEM209	7	129843940	Missense_Mutation	SNP	T	TCGA-2G-AALQ-01A-12D-A42Y-10	32020117	129843940	29294723	22	4930											
RIMS2	9699	broad.mit.edu;mdanderson.org	37	chr8	105261745	105261745	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaggaatgatggacaaaaAgggacagctggaggtagaaa	17	5	16	3	0	0	2	0	1	0	1	0	6	0	6	0	6	1	3	0	6	6	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr8:105261745A>G	ENST00000436393.2	+	26	3915	c.3674A>G	c.(3673-3675)aAg>aGg	p.K1225R	RIMS2_ENST00000406091.3_Missense_Mutation_p.K1207R|RIMS2_ENST00000339750.2_Missense_Mutation_p.K143R|RIMS2_ENST00000507740.1_Missense_Mutation_p.K1021R|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1046R			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)																											p.K1207R													.	RIMS2	1357		0			c.A3620G												72	75	74					8																	105261745		1864	4087	5951	SO:0001583	missense	9699	exon22			ACAAAAAGGGACA	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		85	0	0		94	0.04	4	NM_001100117	0		0	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	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		G	105261745	A	G	105261745	3	3	69	1	0	0	0	0	1	0	0	0	13391	72	3	4	3902	4	RIMS2	8	105261745	Missense_Mutation	SNP	A	TCGA-2G-AALQ-01A-12D-A42Y-10		105261745	41102277	23	4931											
PTK2	5747	mdanderson.org	37	chr8	141684497	141684497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtttctttggtggagctGcaggatctggtgagagagaa	8	11	17	5	1	2	2	0	1	2	2	2	6	2	4	0	5	2	3	0	5	1	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr8:141684497G>A	ENST00000522684.1	-	29	2838	c.2609C>T	c.(2608-2610)gCa>gTa	p.A870V	PTK2_ENST00000395218.2_Missense_Mutation_p.A880V|PTK2_ENST00000521059.1_Missense_Mutation_p.A870V|PTK2_ENST00000519465.1_Missense_Mutation_p.A498V|PTK2_ENST00000535192.1_Missense_Mutation_p.A824V|PTK2_ENST00000517887.1_Missense_Mutation_p.A914V|PTK2_ENST00000430260.2_Missense_Mutation_p.A180V|PTK2_ENST00000340930.3_Missense_Mutation_p.A880V|PTK2_ENST00000538769.1_Missense_Mutation_p.A538V|PTK2_ENST00000519419.1_Missense_Mutation_p.A914V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	870	Interaction with TGFB1I1.|Pro-rich.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGTGGAGCTGCAGGATCTGG	0.542																																					p.A892V													.	.			0			c.C2675T												43	38	40					8																	141684497		2203	4300	6503	SO:0001583	missense	5747	exon29			GGAGCTGCAGGAT	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2609C>T	8.37:g.141684497G>A	ENSP00000429911:p.Ala870Val		68	0	0		45	0.07	3	NM_005607	131	0	0	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294650	0.40594	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986	T;T;T;T;T;T;T;T;T;T;T;T	0.75938	-0.94;-0.98;-0.94;-0.94;-0.94;-0.98;-0.93;-0.95;-0.93;-0.94;1.51;-0.93	5.84	4.97	0.65823	.	0.157610	0.56097	N	0.000030	T	0.55609	0.1931	N	0.08118	0	0.44337	D	0.997222	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.12156	0.001;0.001;0.001;0.0;0.001;0.001;0.002;0.007;0.0;0.0	T	0.50092	-0.8868	10	0.22706	T	0.39	.	14.9284	0.70896	0.0684:0.0:0.9316:0.0	.	880;565;790;870;892;824;822;697;538;498	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.;.;.;FAK1_HUMAN;.;.;.;.;.;.	V	870;824;498;914;870;822;880;791;565;542;880;538;914;180;568	ENSP00000429911:A870V;ENSP00000438009:A824V;ENSP00000429170:A498V;ENSP00000429082:A914V;ENSP00000429474:A870V;ENSP00000378644:A880V;ENSP00000428492:A542V;ENSP00000341189:A880V;ENSP00000445742:A538V;ENSP00000429129:A914V;ENSP00000403416:A180V;ENSP00000430603:A568V	ENSP00000341189:A880V	A	-	2	0	PTK2	141753679	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	3.594000	0.54008	1.484000	0.48361	-0.262000	0.10625	GCA			0.542	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378054.5		NM_005607		A	141684497	G	A	141684497	3	1	69	1	0	0	0	0	1	0	0	0	12783	1319	46	2	565	2	PTK2	8	141684497	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	36422752	141684497	4679525	24	4932											
C8orf73	642475	mdanderson.org	37	chr8	144650356	144650356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcggggctgtcatagtGggccacggtgaccaactcct	6	8	14	13	2	1	1	1	1	0	0	3	1	2	1	4	5	1	1	4	5	2	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr8:144650356G>T	ENST00000398882.3	-	11	1976	c.1720C>A	c.(1720-1722)Cac>Aac	p.H574N	MROH6_ENST00000533679.1_Intron|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000532704.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	574																	CTGTCATAGTGGGCCACGGTG	0.642																																					p.H574N													.	.			0			c.C1720A												24	27	26					8																	144650356		1952	4146	6098	SO:0001583	missense	642475	exon11			CATAGTGGGCCAC	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1720C>A	8.37:g.144650356G>T	ENSP00000381857:p.His574Asn		99	0	0		130	0.04	5	NM_001100878	9	0	0	A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548611	0.27652	.	.	ENSG00000204839	ENST00000398882	T	0.27890	1.64	4.82	4.82	0.62117	Armadillo-type fold (1);	.	.	.	.	T	0.35913	0.0948	M	0.62723	1.935	0.80722	D	1	B	0.32245	0.361	B	0.39904	0.313	T	0.10613	-1.0622	9	0.13108	T	0.6	-30.0989	15.3899	0.74735	0.0:0.0:1.0:0.0	.	574	A6NGR9	CH073_HUMAN	N	574	ENSP00000381857:H574N	ENSP00000381857:H574N	H	-	1	0	C8orf73	144721499	0.993000	0.37304	1.000000	0.80357	0.195000	0.23768	4.236000	0.58675	2.228000	0.72767	0.442000	0.29010	CAC			0.642	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382330.3		NM_001100878		T	144650356	G	T	144650356	3	4	69	1	0	0	0	0	1	0	0	0	2437	1348	47	3	455	3	C8orf73	8	144650356	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	2965859	144650356	1713666	25	4933											
PLEC	5339	mdanderson.org	37	chr8	144993851	144993851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagccgttgtggctctcaGcaggccccggcgcatggcct	4	7	14	16	4	1	0	1	0	1	0	2	0	1	0	4	4	2	5	4	4	0	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr8:144993851G>T	ENST00000322810.4	-	32	10718	c.10549C>A	c.(10549-10551)Ctg>Atg	p.L3517M	PLEC_ENST00000345136.3_Missense_Mutation_p.L3380M|PLEC_ENST00000357649.2_Missense_Mutation_p.L3384M|PLEC_ENST00000398774.2_Missense_Mutation_p.L3348M|PLEC_ENST00000354958.2_Missense_Mutation_p.L3358M|PLEC_ENST00000527096.1_Missense_Mutation_p.L3403M|PLEC_ENST00000356346.3_Missense_Mutation_p.L3366M|PLEC_ENST00000436759.2_Missense_Mutation_p.L3407M|PLEC_ENST00000354589.3_Missense_Mutation_p.L3380M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3517	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						GTGGCTCTCAGCAGGCCCCGG	0.687																																					p.L3517M													.	.			0			c.C10549A												14	17	16					8																	144993851		2013	4129	6142	SO:0001583	missense	5339	exon32			CTCTCAGCAGGCC	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.10549C>A	8.37:g.144993851G>T	ENSP00000323856:p.Leu3517Met		30	0	0		21	0.1	2	NM_201380	41	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	7.060	0.566264	0.13560	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	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	4.73	4.73	0.59995	.	0.000000	0.48767	U	0.000173	D	0.82328	0.5013	M	0.64997	1.995	0.47547	D	0.99945	P;P;P;D;P;P;P;P	0.53745	0.952;0.952;0.952;0.962;0.952;0.952;0.952;0.952	P;P;P;P;P;P;P;P	0.51866	0.476;0.476;0.554;0.682;0.554;0.554;0.554;0.554	D	0.85036	0.0920	10	0.72032	D	0.01	.	17.4986	0.87725	0.0:0.0:1.0:0.0	.	3407;3366;3358;3517;3348;3380;3384;3380	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	3380;3384;3380;3348;3517;3358;3366;3407;3403	ENSP00000344848:L3380M;ENSP00000350277:L3384M;ENSP00000346602:L3380M;ENSP00000381756:L3348M;ENSP00000323856:L3517M;ENSP00000347044:L3358M;ENSP00000348702:L3366M;ENSP00000388180:L3407M;ENSP00000434583:L3403M	ENSP00000323856:L3517M	L	-	1	2	PLEC	145065839	1.000000	0.71417	0.996000	0.52242	0.563000	0.35712	3.625000	0.54238	2.455000	0.83008	0.448000	0.29417	CTG			0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		T	144993851	G	T	144993851	3	4	69	1	0	0	0	0	1	0	0	0	12069	962	34	2	3509	2	PLEC	8	144993851	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	343495	144993851	1370171	26	4934											
RECQL4	9684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	145741150	145741150	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcagatgtctcacctGgccggggacactgggctgcc	6	6	15	14	1	1	1	1	0	1	1	2	2	1	2	4	5	1	2	4	5	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr8:145741150G>A	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Missense_Mutation_p.P419L|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(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)			TGTCTCACCTGGCCGGGGACA	0.587																																					p.P419L													.	.			0			c.C1256T												31	34	33					8																	145741150		2023	4155	6178	SO:0001631	upstream_gene_variant	9401	exon6			TCACCTGGCCGGG	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741150G>A	Exception_encountered		74	0	0		97	0.33	32	NM_004260	40	0.18	7	A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	CCDS6432.1																																																																																					0.587	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382494.1		NM_014665		A	145741150	G	A	145741150	1	1	69	0	1	0	0	0	0	0	0	0	13225	1348	47	3		3	RECQL4	8	145741150	5'Flank	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	747299	145741150	622872	27	4935											
COL5A1	1289	broad.mit.edu	37	chr9	137676839	137676839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctggcttgcagggggAgatcggcccacccggtccca	5	9	13	14	2	1	1	0	0	1	1	3	2	2	1	3	5	1	2	3	5	0	3			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr9:137676839A>G	ENST00000371817.3	+	30	2903	c.2489A>G	c.(2488-2490)gAg>gGg	p.E830G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	830	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)		TTGCAGGGGGAGATCGGCCCA	0.637																																					p.E830G													.	COL5A1	323		0			c.A2489G												31	38	36					9																	137676839		2203	4300	6503	SO:0001583	missense	1289	exon30			AGGGGGAGATCGG	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.2489A>G	9.37:g.137676839A>G	ENSP00000360882:p.Glu830Gly		233	0.008583691	2		190	0.02	4	NM_000093	191	0	0	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	a	20.2	3.945235	0.73672	.	.	ENSG00000130635	ENST00000371817	D	0.93906	-3.31	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	D	0.95130	0.8422	L	0.55017	1.72	0.58432	D	0.999999	D	0.65815	0.995	D	0.79108	0.992	D	0.95115	0.8241	10	0.59425	D	0.04	.	12.6117	0.56554	1.0:0.0:0.0:0.0	.	830	P20908	CO5A1_HUMAN	G	830	ENSP00000360882:E830G	ENSP00000360882:E830G	E	+	2	0	COL5A1	136816660	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.998000	0.88491	1.626000	0.50381	0.248000	0.18094	GAG			0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054954.2		NM_000093		G	137676839	A	G	137676839	3	3	69	1	0	0	0	0	1	0	0	0	3698	304	11	4	2607	4	COL5A1	9	137676839	Missense_Mutation	SNP	A	TCGA-2G-AALQ-01A-12D-A42Y-10		137676839	3536592	28	4936											
PI4K2A	55361	hgsc.bcm.edu	37	chr10	99410611	99410729	+	Splice_Site	DEL	ATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA	ATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA	-																															ttgtctgcctatgccctgtcAtttctttccagattcctgct																								rs139961604|rs547144502|rs192834192|rs202070275|rs367725219	byFrequency	TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	ATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA	ATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr10:99410611_99410729delATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA	ENST00000370631.3	+	2	492_524	c.435_467delATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA	c.(433-468)ggatttctttccagattcctgctgacttggtctgtg>ggg	p.FLSRFLLTWSV146fs	PI4K2A_ENST00000555577.1_Splice_Site_p.FLSRFLLTWSV116fs|PI4K2A_ENST00000370649.3_Splice_Site_p.FLSRFLLTWSV116fs	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	146	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		ATGCCCTGTCATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGAAGAGCCCTAT	0.489																																					p.146_156del													.	.			0			c.436_466del																																									SO:0001630	splice_region_variant	55361	exon2			CCTGTCATTTCTT	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.436-1ATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA>-	10.37:g.99410611_99410729delATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA			39	0	0		21	0	0	NM_018425	0		0	D3DR59|Q9NSG8	Frame_Shift_Del	DEL	ENST00000370631.3	37	CCDS7469.1																																																																																					0.489	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049735.1		NM_018425	Frame_Shift_Del	-	99410729	ATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA	-	99410611	8	5	69	1	0	1	0	1	0	0	1	0	11888	232	8	0		0	PI4K2A	10	99410611	Splice_Site	DEL	ATTTCTTTCCAGATTCCTGCTGACTTGGTCTGTGGGCTATTTTGGTCAACTCGGATTTAACATCCTCTTTTTCTTTGGTCTCTGTAGAGGATCATTGCTGTCTTCAAACCCAAGAATGA	TCGA-2G-AALQ-01A-12D-A42Y-10		99410611	36124136	29	4937											
SH3PXD2A	9644	mdanderson.org	37	chr10	105361836	105361836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatgctgttgcgctgggcggGcagtaggggtgagtctgaac	6	10	18	7	2	1	2	0	2	1	0	1	2	1	2	0	4	3	5	0	4	3	3			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr10:105361836G>A	ENST00000369774.4	-	15	3415	c.3139C>T	c.(3139-3141)Ccc>Tcc	p.P1047S	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.P1019S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.P914S|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.P882S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1047					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)		CGCTGGGCGGGCAGTAGGGGT	0.617																																					p.P1019S													.	.			0			c.C3055T												85	94	91					10																	105361836		2203	4300	6503	SO:0001583	missense	9644	exon14			GGGCGGGCAGTAG	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.3139C>T	10.37:g.105361836G>A	ENSP00000358789:p.Pro1047Ser		55	0	0		43	0.07	3	NM_014631	20	0	0	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.112|7.112	0.576264|0.576264	0.13686|0.13686	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.58060	.|0.43;0.43;0.58;0.36	5.27|5.27	1.13|1.13	0.20643|0.20643	.|Src homology-3 domain (1);	.|0.369438	.|0.31601	.|N	.|0.007371	T|T	0.33990|0.33990	0.0882|0.0882	L|L	0.34521|0.34521	1.04|1.04	0.32305|0.32305	N|N	0.564522|0.564522	.|B;B;B;B	.|0.09022	.|0.0;0.0;0.002;0.0	.|B;B;B;B	.|0.08055	.|0.001;0.001;0.003;0.002	T|T	0.28038|0.28038	-1.0056|-1.0056	5|10	.|0.18710	.|T	.|0.47	-11.8698|-11.8698	7.1634|7.1634	0.25677|0.25677	0.2075:0.1224:0.6701:0.0|0.2075:0.1224:0.6701:0.0	.|.	.|1047;896;892;1019	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	V|S	973|1047;1019;854;914;882	.|ENSP00000358789:P1047S;ENSP00000348215:P1019S;ENSP00000443663:P914S;ENSP00000441514:P882S	.|ENSP00000318135:P854S	A|P	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105351826|105351826	0.024000|0.024000	0.19004|0.19004	0.942000|0.942000	0.38095|0.38095	0.741000|0.741000	0.42261|0.42261	0.137000|0.137000	0.15995|0.15995	0.243000|0.243000	0.21327|0.21327	-0.219000|-0.219000	0.12488|0.12488	GCC|CCC			0.617	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000050178.1		NM_014631		A	105361836	G	A	105361836	3	1	69	1	0	0	0	0	1	0	0	0	14279	1203	42	2	266	2	SH3PXD2A	10	105361836	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	5951225	105361836	30172911	30	4938											
EMX2	2018	mdanderson.org	37	chr10	119307662	119307662	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattcgcaacaaaagaaaaaAgggacgcaccatattaaccg	19	5	8	9	3	0	1	0	0	0	1	1	3	0	2	2	1	2	2	2	1	8	3			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr10:119307662A>G	ENST00000553456.3	+	3	1502	c.678A>G	c.(676-678)aaA>aaG	p.K226K	EMX2_ENST00000442245.4_Missense_Mutation_p.R165G|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	226					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AAAAGAAAAAAGGGACGCACC	0.468																																					p.R165G													.	.			0			c.A493G												63	60	61					10																	119307662		2203	4300	6503	SO:0001819	synonymous_variant	2018	exon2			GAAAAAAGGGACG	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.678A>G	10.37:g.119307662A>G			49	0	0		44	0.07	3	NM_001165924	19	0	0	G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499110	0.64298	.	.	ENSG00000258614	ENST00000553456	.	.	.	5.24	4.11	0.48088	.	.	.	.	.	T	0.33411	0.0862	.	.	.	0.31368	N	0.680498	B	0.02656	0.0	B	0.08055	0.003	T	0.29792	-1.0000	6	.	.	.	-9.4468	11.1193	0.48279	0.9271:0.0:0.0729:0.0	.	165	G3V305	.	G	165	.	.	R	+	1	2	AC005871.1	119297652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.961000	0.56759	0.940000	0.37473	-0.263000	0.10527	AGG			0.468	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050569.4		NM_004098		G	119307662	A	G	119307662	2	3	69	1	0	0	0	0	0	0	0	1	5115	72	3	4		4	EMX2	10	119307662	Silent	SNP	A	TCGA-2G-AALQ-01A-12D-A42Y-10	13945826	119307662	16227085	31	4939											
KRTAP5-5	439915	hgsc.bcm.edu;broad.mit.edu	37	chr11	1651442	1651442	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgtggctcctgtgggggGtccaaggggggctgtggctc	2	9	21	9	0	0	0	0	0	0	0	3	0	2	0	2	9	0	4	2	9	1	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr11:1651442G>C	ENST00000399676.2	+	1	410	c.372G>C	c.(370-372)ggG>ggC	p.G124G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	124	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G124G(2)		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)		CCTGTGGGGGGTCCAAGGGGG	0.692																																					p.G124G													KRTAP5-5,bladder,carcinoma,0,4	KRTAP5-5	0	4	2	Substitution - coding silent(2)	prostate(2)	c.G372C																																									SO:0001819	synonymous_variant	439915	exon1			TGGGGGGTCCAAG	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.372G>C	11.37:g.1651442G>C			37	0.027027027	1		28	0.11	3	NM_001001480	0		0	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																					0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127919.1				C	1651442	G	C	1651442	2	2	69	1	0	0	0	0	0	0	0	1	8579	1248	44	5		5	KRTAP5-5	11	1651442	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		1651442	133355074	32	4940											
LRRC4C	57689	broad.mit.edu	37	chr11	40137725	40137725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgagcccgcaccagacCagccaccacaagaagttgaa	13	4	10	14	1	1	4	0	2	1	2	1	4	1	4	5	1	2	2	5	1	3	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr11:40137725C>T	ENST00000278198.2	-	2	2081	c.118G>A	c.(118-120)Ggt>Agt	p.G40S	LRRC4C_ENST00000530763.1_Missense_Mutation_p.G40S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G40S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.G40S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	40					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)				CGCACCAGACCAGCCACCACA	0.537																																					p.G40S													.	LRRC4C	190		0			c.G118A												63	58	60					11																	40137725		2203	4300	6503	SO:0001583	missense	57689	exon5			CCAGACCAGCCAC	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.118G>A	11.37:g.40137725C>T	ENSP00000278198:p.Gly40Ser		137	0	0		110	0.04	4	NM_020929	0		0	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713395	0.89112	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763;ENST00000533474	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.76	5.76	0.90799	.	0.049745	0.85682	D	0.000000	T	0.67011	0.2848	L	0.50333	1.59	0.58432	D	0.99999	D	0.76494	0.999	D	0.75484	0.986	T	0.58370	-0.7648	10	0.19147	T	0.46	.	18.9442	0.92615	0.0:1.0:0.0:0.0	.	40	Q9HCJ2	LRC4C_HUMAN	S	40	ENSP00000278198:G40S;ENSP00000436976:G40S;ENSP00000437132:G40S;ENSP00000434761:G40S	ENSP00000278198:G40S	G	-	1	0	LRRC4C	40094301	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.920000	0.70017	2.719000	0.93026	0.650000	0.86243	GGT			0.537	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389499.1		NM_020929		T	40137725	C	T	40137725	3	4	69	1	0	0	0	0	1	0	0	0	9024	594	21	3	1808	3	LRRC4C	11	40137725	Missense_Mutation	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	38486283	40137725	94868791	33	4941											
PSMC3	5702	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	47445698	47445698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtcatactctgtgggcaGcgtctccaggatcagatagg	9	9	13	10	2	4	1	2	0	2	1	5	3	4	2	1	3	2	1	1	3	2	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr11:47445698G>A	ENST00000298852.3	-	6	647	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	PSMC3_ENST00000602866.1_Silent_p.L148L|PSMC3_ENST00000530912.1_Silent_p.L122L	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	164					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)|ATP catabolic process (GO:0006200)|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 RNA biosynthetic process (GO:2001141)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTGTGGGCAGCGTCTCCAGG	0.562																																					p.L164L													.	.			0			c.C490T												160	137	145					11																	47445698		2201	4298	6499	SO:0001819	synonymous_variant	5702	exon6			TGGGCAGCGTCTC	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.490C>T	11.37:g.47445698G>A			97	0	0		80	0.15	12	NM_002804	355	0.21	75	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Silent	SNP	ENST00000298852.3	37	CCDS7935.1																																																																																					0.562	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395660.2		NM_002804		A	47445698	G	A	47445698	2	1	69	1	0	0	0	0	0	0	0	1	12707	962	34	2		2	PSMC3	11	47445698	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	7307973	47445698	87560818	34	4942											
BBS1	582	mdanderson.org	37	chr11	66290988	66290988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcctgtgggacttatccggGtacacaaggtcctagtggtg	8	10	14	9	1	0	0	0	0	0	0	2	1	2	1	3	4	2	1	3	4	4	3			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr11:66290988G>T	ENST00000318312.7	+	10	943	c.892G>T	c.(892-894)Gta>Tta	p.V298L	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.V201L|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.V335L|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	298					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						ACTTATCCGGGTACACAAGGT	0.587									Bardet-Biedl syndrome																												p.V298L	GBM(152;173 2612 9770 10137)												.	.			0			c.G892T												76	72	73					11																	66290988		2200	4295	6495	SO:0001583	missense	582	exon10	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ATCCGGGTACACA	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.892G>T	11.37:g.66290988G>T	ENSP00000317469:p.Val298Leu		121	0	0		47	0.06	3	NM_024649	15	0	0	Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498030	0.26861	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.56611	0.45;0.45;0.45	5.32	0.843	0.18935	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.27454	0.0674	N	0.16478	0.41	0.80722	D	1	P;B;B;B	0.34462	0.454;0.433;0.055;0.208	B;B;B;B	0.29598	0.08;0.104;0.066;0.104	T	0.03784	-1.1004	9	0.20046	T	0.44	.	6.0509	0.19785	0.5086:0.0:0.4914:0.0	.	201;186;298;335	E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	L	335;298;201	ENSP00000398526:V335L;ENSP00000317469:V298L;ENSP00000405764:V201L	ENSP00000317469:V298L	V	+	1	0	BBS1;CTD-3074O7.11	66047564	1.000000	0.71417	0.727000	0.30756	0.785000	0.44390	1.979000	0.40608	0.260000	0.21731	-0.140000	0.14226	GTA			0.587	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393235.2				T	66290988	G	T	66290988	3	4	69	1	0	0	0	0	1	0	0	0	1335	1261	44	3	930	3	BBS1	11	66290988	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	18845290	66290988	68715528	35	4943											
SUV420H1	51111	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	67925696	67925697	+	Frame_Shift_Del	DEL	TG	TG	-																															agttattttctaggattaacTgtgcatcataccttgtgatt																										TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	TG	TG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr11:67925696_67925697delTG	ENST00000304363.4	-	11	2469_2470	c.2116_2117delCA	c.(2116-2118)cagfs	p.Q706fs		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	706					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						TAGGATTAACTGTGCATCATAC	0.396																																					p.706_706del													.	.			0			c.2117_2118del																																									SO:0001589	frameshift_variant	51111	exon11			ATTAACTGTGCAT	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.2116_2117delCA	11.37:g.67925698_67925699delTG	ENSP00000305899:p.Gln706fs		107	0	0		123	0.4	49	NM_017635	7	0	0	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Frame_Shift_Del	DEL	ENST00000304363.4	37	CCDS31623.1																																																																																					0.396	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318319.1		NM_017635		-	67925697	TG	-	67925696	7	5	69	1	0	1	0	1	0	0	0	0	15437	1580	55	0	544	0	SUV420H1	11	67925696	Frame_Shift_Del	DEL	TG	TCGA-2G-AALQ-01A-12D-A42Y-10	1634708	67925696	67080820	36	4944											
SAPS3	55291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	68359128	68359128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgatgaggaagatatatggGaggaaaagcacatcgcattc	15	8	12	6	1	0	3	0	2	0	1	2	6	0	6	0	3	1	2	0	3	5	3			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr11:68359128G>C	ENST00000393800.2	+	18	2124	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	PPP6R3_ENST00000534534.1_Missense_Mutation_p.E392Q|PPP6R3_ENST00000529710.1_Missense_Mutation_p.E544Q|PPP6R3_ENST00000527403.2_Missense_Mutation_p.E589Q|PPP6R3_ENST00000265636.5_Missense_Mutation_p.E544Q|PPP6R3_ENST00000524904.1_Missense_Mutation_p.E618Q|PPP6R3_ENST00000393801.3_Missense_Mutation_p.E624Q|PPP6R3_ENST00000524845.1_Missense_Mutation_p.E595Q|PPP6R3_ENST00000393799.2_Missense_Mutation_p.E624Q|PPP6R3_ENST00000265637.4_Missense_Mutation_p.E578Q	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	624					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						AGATATATGGGAGGAAAAGCA	0.368																																					p.E624Q													.	.			0			c.G1870C												130	110	117					11																	68359128		2200	4294	6494	SO:0001583	missense	55291	exon18			ATATGGGAGGAAA	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.1870G>C	11.37:g.68359128G>C	ENSP00000377389:p.Glu624Gln		53	0	0		51	0.2	10	NM_001164160	25	0.12	3	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022224	0.54683	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.33438	1.45;1.41;1.43;1.45;1.66;1.42;1.46;1.42;1.48;1.5;1.5	5.43	5.43	0.79202	.	0.046577	0.85682	D	0.000000	T	0.40570	0.1122	L	0.31371	0.925	0.80722	D	1	D;P;P;P;P;P;D;B	0.62365	0.985;0.941;0.739;0.835;0.638;0.506;0.991;0.3	P;P;B;P;B;B;P;B	0.60173	0.836;0.616;0.396;0.624;0.359;0.196;0.87;0.253	T	0.03898	-1.0994	10	0.19147	T	0.46	.	19.6027	0.95569	0.0:0.0:1.0:0.0	.	307;392;544;595;618;624;624;544	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	Q	624;624;392;595;578;618;624;544;544;589;331	ENSP00000377388:E624Q;ENSP00000377389:E624Q;ENSP00000434429:E392Q;ENSP00000431415:E595Q;ENSP00000265637:E578Q;ENSP00000433058:E618Q;ENSP00000377390:E624Q;ENSP00000265636:E544Q;ENSP00000437329:E544Q;ENSP00000433565:E589Q;ENSP00000436209:E331Q	ENSP00000265636:E544Q	E	+	1	0	PPP6R3	68115704	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.839000	0.86812	2.703000	0.92315	0.650000	0.86243	GAG			0.368	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395275.1		NM_018312		C	68359128	G	C	68359128	3	2	69	1	0	0	0	0	1	0	0	0	13861	1175	41	5	1932	5	SAPS3	11	68359128	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	433432	68359128	66647388	37	4945											
LRRC32	2615	mdanderson.org	37	chr11	76370909	76370909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgccagccagccattgccGcagcagctgagtggattccc	7	7	12	15	1	0	1	0	1	0	0	1	2	1	2	5	1	6	4	5	1	0	2	rs202216778		TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr11:76370909G>A	ENST00000407242.2	-	3	1970	c.1728C>T	c.(1726-1728)tgC>tgT	p.C576C	LRRC32_ENST00000260061.5_Silent_p.C576C|LRRC32_ENST00000404995.1_Silent_p.C576C|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	576	LRRCT.				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						AGCCATTGCCGCAGCAGCTGA	0.667													G|||	1	0.000199681	0	0	5008	,	,		16788	0		0.001	False		,,,				2504	0				p.C576C													.	.			0			c.C1728T												28	29	29					11																	76370909		2199	4290	6489	SO:0001819	synonymous_variant	2615	exon3			ATTGCCGCAGCAG	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.1728C>T	11.37:g.76370909G>A			51	0.0196078431	1		36	0.08	3	NM_001128922	11	0	0	Q86V06	Silent	SNP	ENST00000407242.2	37	CCDS8245.1																																																																																			0		0.667	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257926.2		NM_005512		A	76370909	G	A	76370909	2	1	69	1	0	0	0	0	0	0	0	1	9003	1079	38	1		1	LRRC32	11	76370909	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	8011781	76370909	58635607	38	4946											
VSIG2	23584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	124619734	124619734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacagaggtttgtccactCtgactgcataagggattact	10	11	9	11	0	1	2	0	1	1	1	2	3	2	3	2	2	2	2	2	2	2	3			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr11:124619734C>G	ENST00000326621.5	-	4	556	c.456G>C	c.(454-456)caG>caC	p.Q152H	VSIG2_ENST00000403470.1_Missense_Mutation_p.Q152H	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	152	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)		TTTGTCCACTCTGACTGCATA	0.478																																					p.Q152H													.	.			0			c.G456C												54	53	54					11																	124619734		2201	4299	6500	SO:0001583	missense	23584	exon4			TCCACTCTGACTG	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.456G>C	11.37:g.124619734C>G	ENSP00000318684:p.Gln152His		39	0	0		42	0.33	14	NM_014312	7	0.29	2	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657088	0.29425	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.68181	-0.31;-0.31	5.18	3.11	0.35812	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.760031	0.11887	N	0.519994	T	0.62527	0.2435	N	0.22421	0.69	0.09310	N	0.999996	P	0.43885	0.82	P	0.52267	0.694	T	0.53422	-0.8441	10	0.87932	D	0	.	8.3465	0.32277	0.0:0.7822:0.0:0.2178	.	152	Q96IQ7	VSIG2_HUMAN	H	152	ENSP00000318684:Q152H;ENSP00000385013:Q152H	ENSP00000318684:Q152H	Q	-	3	2	VSIG2	124124944	0.001000	0.12720	0.923000	0.36655	0.868000	0.49771	-0.176000	0.09811	1.337000	0.45525	0.655000	0.94253	CAG			0.478	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317785.1		NM_014312		G	124619734	C	G	124619734	3	3	69	1	0	0	0	0	1	0	0	0	17248	912	32	5	543	5	VSIG2	11	124619734	Missense_Mutation	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	48248825	124619734	10386782	39	4947											
CHD4	1108	broad.mit.edu	37	chr12	6709741	6709741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcggagtttcttgcggctgCggctactacggctggtggaa	5	12	15	9	4	1	0	0	0	1	0	2	2	1	2	0	6	4	4	0	6	3	5			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr12:6709741C>T	ENST00000357008.2	-	8	1185	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	CHD4_ENST00000544040.1_Missense_Mutation_p.R334H|CHD4_ENST00000544484.1_Missense_Mutation_p.R338H|CHD4_ENST00000309577.6_Missense_Mutation_p.R341H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	341					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						CTTGCGGCTGCGGCTACTACG	0.448																																					p.R341H	Colon(32;586 792 4568 16848 45314)												.	CHD4	539		0			c.G1022A												64	68	67					12																	6709741		2202	4300	6502	SO:0001583	missense	1108	exon8			CGGCTGCGGCTAC	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.1022G>A	12.37:g.6709741C>T	ENSP00000349508:p.Arg341His		103	0	0		208	0.02	5	NM_001273	84	0	0	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369430	0.61624	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90788	-2.72;-2.73;-2.72;-2.73;0.69	4.48	3.5	0.40072	Zinc finger, FYVE/PHD-type (1);	0.236600	0.36134	N	0.002767	D	0.92844	0.7724	M	0.69823	2.125	0.50467	D	0.99987	D;D;D	0.89917	0.999;1.0;0.986	P;P;P	0.61592	0.866;0.891;0.674	D	0.92361	0.5897	10	0.59425	D	0.04	-0.0621	9.9209	0.41464	0.1536:0.6973:0.149:0.0	.	341;341;334	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	338;334;341;341;315;341	ENSP00000440392:R338H;ENSP00000440542:R334H;ENSP00000312419:R341H;ENSP00000349508:R341H;ENSP00000437506:R341H	ENSP00000312419:R341H	R	-	2	0	CHD4	6580002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.477000	0.66799	2.423000	0.82170	0.561000	0.74099	CGC			0.448	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001273		T	6709741	C	T	6709741	3	4	69	1	0	0	0	0	1	0	0	0	3329	768	27	1	4848	1	CHD4	12	6709741	Missense_Mutation	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10		6709741	127142154	40	4948											
MLF2	8079	broad.mit.edu	37	chr12	6858045	6858045	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcccctccgcccttcgTcccccagcccctgaggactc	4	6	10	21	2	0	1	0	1	0	0	4	3	2	3	8	3	1	0	8	3	0	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr12:6858045T>C	ENST00000203630.5	-	8	1307	c.663A>G	c.(661-663)ggA>ggG	p.G221G	MLF2_ENST00000539187.1_Silent_p.G221G|MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000435120.1_Silent_p.G221G|MLF2_ENST00000542154.1_Silent_p.G221G			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	221					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						CCGCCCTTCGTCCCCCAGCCC	0.706																																					p.G221G													.	MLF2	26		0			c.A663G												21	24	23					12																	6858045		2198	4282	6480	SO:0001819	synonymous_variant	8079	exon8			CCTTCGTCCCCCA	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.663A>G	12.37:g.6858045T>C			102	0.068627451	7		181	0.14	25	NM_005439	862	0.05	41		Silent	SNP	ENST00000203630.5	37	CCDS8559.1																																																																																					0.706	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400733.2				C	6858045	T	C	6858045	2	2	69	1	0	0	0	0	0	0	0	1	9632	1654	58	4		4	MLF2	12	6858045	Silent	SNP	T	TCGA-2G-AALQ-01A-12D-A42Y-10	148304	6858045	126993850	41	4949											
DIP2B	57609	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr12	51034560	51034560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagacacctgctccatctGcagctcaaacttctgctccc	9	9	5	18	0	3	1	1	0	2	1	5	1	5	1	4	0	5	4	4	0	1	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr12:51034560G>T	ENST00000301180.5	+	3	260	c.226G>T	c.(226-228)Gca>Tca	p.A76S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	76	DMAP-interaction.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGCTCCATCTGCAGCTCAAAC	0.453																																					p.A76S													.	.			0			c.G226T												84	81	82					12																	51034560		2203	4300	6503	SO:0001583	missense	57609	exon3			CCATCTGCAGCTC	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.226G>T	12.37:g.51034560G>T	ENSP00000301180:p.Ala76Ser		84	0	0		107	0.05	5	NM_173602	3	0	0	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	0.843	-0.741113	0.03088	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.39406	1.08	5.69	0.31	0.15825	DMAP1-binding (1);	0.536784	0.21443	N	0.074456	T	0.09468	0.0233	N	0.00321	-1.65	0.31427	N	0.673601	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.36261	-0.9755	10	0.07482	T	0.82	-4.0064	8.3952	0.32553	0.1249:0.0:0.5667:0.3085	.	76;76	Q9P265;E9PHD6	DIP2B_HUMAN;.	S	76	ENSP00000301180:A76S	ENSP00000301180:A76S	A	+	1	0	DIP2B	49320827	1.000000	0.71417	0.846000	0.33378	0.710000	0.40934	1.436000	0.34980	-0.157000	0.11059	-2.619000	0.00157	GCA			0.453	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404243.1		NM_173602		T	51034560	G	T	51034560	3	4	69	1	0	0	0	0	1	0	0	0	4533	1319	46	2	236	2	DIP2B	12	51034560	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	44176515	51034560	82817335	42	4950											
ZFC3H1	196441	mdanderson.org	37	chr12	72041536	72041536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtatcttaccttttcaGacagaatatctgaggtacta	13	13	7	8	0	3	3	1	1	2	2	3	3	3	3	1	1	3	3	1	1	6	7			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr12:72041536G>T	ENST00000378743.3	-	3	1431	c.1073C>A	c.(1072-1074)tCt>tAt	p.S358Y		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	358					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						TACCTTTTCAGACAGAATATC	0.284																																					p.S358Y													.	.			0			c.C1073A												82	79	80					12																	72041536		1814	4068	5882	SO:0001583	missense	196441	exon3			TTTTCAGACAGAA	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.1073C>A	12.37:g.72041536G>T	ENSP00000368017:p.Ser358Tyr		32	0	0		49	0.06	3	NM_144982	0		0	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203042	0.79127	.	.	ENSG00000133858	ENST00000378743	T	0.35236	1.32	5.25	5.25	0.73442	.	0.265401	0.31210	N	0.008057	T	0.47040	0.1424	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.46898	-0.9158	10	0.66056	D	0.02	.	15.9455	0.79789	0.0:0.0:1.0:0.0	.	358	O60293	ZC3H1_HUMAN	Y	358	ENSP00000368017:S358Y	ENSP00000368017:S358Y	S	-	2	0	ZFC3H1	70327803	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.154000	0.58125	2.620000	0.88729	0.563000	0.77884	TCT			0.284	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404751.1		NM_144982		T	72041536	G	T	72041536	3	4	69	1	0	0	0	0	1	0	0	0	17656	942	33	3	5028	3	ZFC3H1	12	72041536	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	21006976	72041536	61810359	43	4951											
TRAFD1	10906	broad.mit.edu	37	chr12	112579948	112579948	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagccccccaaagagggTggtgaagagagtgcaaactt	14	5	12	10	0	0	3	0	1	0	2	0	4	0	3	3	2	4	1	3	2	4	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr12:112579948T>G	ENST00000257604.5	+	6	1316	c.699T>G	c.(697-699)ggT>ggG	p.G233G	TRAFD1_ENST00000412615.2_Silent_p.G233G	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	233					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						CCAAAGAGGGTGGTGAAGAGA	0.473																																					p.G233G													.	TRAFD1	42		0			c.T699G												93	98	96					12																	112579948		2203	4300	6503	SO:0001819	synonymous_variant	10906	exon6			AGAGGGTGGTGAA	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.699T>G	12.37:g.112579948T>G			58	0.1206896552	7		76	0.13	10	NM_001143906	41	0	0	A8K5L6|B4DI89	Silent	SNP	ENST00000257604.5	37	CCDS9160.1																																																																																					0.473	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405214.1		NM_006700		G	112579948	T	G	112579948	2	3	69	1	0	0	0	0	0	0	0	1	16471	1683	59	4		4	TRAFD1	12	112579948	Silent	SNP	T	TCGA-2G-AALQ-01A-12D-A42Y-10	40538412	112579948	21271947	44	4952											
TPTE2	93492	bcgsc.ca	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	17	10	5	9	1	1	0	0	0	1	0	2	1	1	1	2	1	3	1	2	1	8	6	rs201542496		TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					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)		CGTTCTAACATACTTTAGCCA	0.313																																					p.M41V													.	TPTE2	225		0			c.A121G												47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492	exon5			CTAACATACTTTA	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.120-1A>G	13.37:g.20056686T>C			436	0.004587156	2		421	0.03	12	NM_199254	0		0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG			0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_199254	Missense_Mutation	C	20056686	T	C	20056686	5	2	69	1	0	0	0	0	0	0	1	0	16455	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-2G-AALQ-01A-12D-A42Y-10		20056686	95113192	45	4953											
RXFP2	122042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	32367149	32367149	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacttttatgggaaaaaTggagtatgtttcccacttta	13	14	9	5	0	0	0	0	0	0	0	1	3	1	3	1	3	1	2	1	3	6	6			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr13:32367149T>A	ENST00000298386.2	+	16	1781	c.1710T>A	c.(1708-1710)aaT>aaA	p.N570K	RXFP2_ENST00000380314.1_Missense_Mutation_p.N546K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	570					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)		ATGGGAAAAATGGAGTATGTT	0.333																																					p.N570K													.	.			0			c.T1710A												44	48	47					13																	32367149		2203	4300	6503	SO:0001583	missense	122042	exon16			GAAAAATGGAGTA	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.1710T>A	13.37:g.32367149T>A	ENSP00000298386:p.Asn570Lys		125	0	0		73	0.21	15	NM_130806	0		0	B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783531	0.70222	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.36878	1.23;1.23	5.73	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	M	0.88979	2.995	0.51767	D	0.999932	D;D	0.89917	0.999;1.0	D;D	0.91635	0.98;0.999	T	0.65598	-0.6129	10	0.48119	T	0.1	.	10.1966	0.43058	0.0:0.0794:0.0:0.9206	.	546;570	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	K	546;570	ENSP00000369670:N546K;ENSP00000298386:N570K	ENSP00000298386:N570K	N	+	3	2	RXFP2	31265149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.760000	0.38430	0.968000	0.38212	0.533000	0.62120	AAT			0.333	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000044399.1		NM_130806		A	32367149	T	A	32367149	3	1	69	1	0	0	0	0	1	0	0	0	13783	1461	51	5	1772	5	RXFP2	13	32367149	Missense_Mutation	SNP	T	TCGA-2G-AALQ-01A-12D-A42Y-10	12310463	32367149	82802729	46	4954											
THSD1	55901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	52952281	52952281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgagtcacatttagAtccagcctggagggaggcct	8	9	13	11	0	1	2	1	1	0	1	2	4	2	4	4	4	1	0	4	4	1	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr13:52952281A>T	ENST00000258613.4	-	5	2002	c.1824T>A	c.(1822-1824)gaT>gaA	p.D608E	THSD1_ENST00000544466.1_Missense_Mutation_p.D229E|THSD1_ENST00000349258.4_Missense_Mutation_p.D555E	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	608					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)		TCACATTTAGATCCAGCCTGG	0.602																																					p.D608E													.	.			0			c.T1824A												54	55	55					13																	52952281		2203	4300	6503	SO:0001583	missense	55901	exon5			ATTTAGATCCAGC	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.1824T>A	13.37:g.52952281A>T	ENSP00000258613:p.Asp608Glu		119	0	0		66	0.11	7	NM_018676	4	0	0	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.712501	0.30322	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.33654	2.12;1.4;2.31	5.38	-0.0509	0.13828	.	0.246106	0.36854	N	0.002364	T	0.46964	0.1420	L	0.55103	1.725	0.09310	N	0.999993	D;D	0.71674	0.996;0.998	D;D	0.77557	0.99;0.938	T	0.32929	-0.9888	10	0.87932	D	0	-22.1051	6.4776	0.22045	0.6964:0.1251:0.1785:0.0	.	555;608	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	E	555;229;608	ENSP00000340650:D555E;ENSP00000438512:D229E;ENSP00000258613:D608E	ENSP00000258613:D608E	D	-	3	2	THSD1	51850282	0.002000	0.14202	0.025000	0.17156	0.034000	0.12701	0.073000	0.14640	-0.223000	0.09943	0.455000	0.32223	GAT			0.602	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045058.3				T	52952281	A	T	52952281	3	4	69	1	0	0	0	0	1	0	0	0	15900	330	12	5	738	5	THSD1	13	52952281	Missense_Mutation	SNP	A	TCGA-2G-AALQ-01A-12D-A42Y-10	20585132	52952281	62217597	47	4955											
SALL2	6297	hgsc.bcm.edu	37	chr14	21991589	21991589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcagacaactcctcttccGgtgatggctgctgggactgc	6	10	11	14	1	2	2	1	1	1	1	4	3	4	3	3	3	3	2	3	3	1	1	rs372214185	byFrequency	TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr14:21991589G>T	ENST00000327430.3	-	2	2567	c.2273C>A	c.(2272-2274)cCg>cAg	p.P758Q	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Missense_Mutation_p.P621Q	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	758					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.P758L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCCTCTTCCGGTGATGGCTG	0.577																																					p.P758Q													SALL2,colon,carcinoma,0,1	SALL2	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2273A												52	49	50					14																	21991589		2203	4300	6503	SO:0001583	missense	6297	exon2			TCTTCCGGTGATG	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2273C>A	14.37:g.21991589G>T	ENSP00000333537:p.Pro758Gln		64	0	0		62	0.08	5	NM_005407	93	0	0	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025067	0.35701	.	.	ENSG00000165821	ENST00000327430;ENST00000450879	T;T	0.04119	3.77;3.7	4.76	2.95	0.34219	.	0.260152	0.20493	N	0.091250	T	0.02970	0.0088	L	0.27053	0.805	0.09310	N	1	P;P;P;P	0.43094	0.799;0.799;0.609;0.609	B;B;B;B	0.40256	0.324;0.324;0.174;0.123	T	0.32613	-0.9900	10	0.10111	T	0.7	-4.7548	4.35	0.11151	0.1875:0.0:0.6343:0.1781	.	621;621;519;758	B4DK65;E7EW59;B4DFD9;Q9Y467	.;.;.;SALL2_HUMAN	Q	758;621	ENSP00000333537:P758Q;ENSP00000396773:P621Q	ENSP00000333537:P758Q	P	-	2	0	SALL2	21061429	0.001000	0.12720	0.244000	0.24202	0.792000	0.44763	0.615000	0.24329	0.624000	0.30286	-0.244000	0.11960	CCG			0.577	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401242.1		NM_005407		T	21991589	G	T	21991589	3	4	69	1	0	0	0	0	1	0	0	0	13834	1116	39	1	754	1	SALL2	14	21991589	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		21991589	85357951	48	4956											
NYNRIN	57523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24880356	24880356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctggaaccggggacaccGagaggtcactgtgtttgtac	8	11	13	9	2	2	1	1	0	1	1	2	4	2	3	2	4	2	2	2	4	2	3	rs540767530		TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr14:24880356G>A	ENST00000382554.3	+	5	2807	c.2489G>A	c.(2488-2490)cGa>cAa	p.R830Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	830					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						CGGGGACACCGAGAGGTCACT	0.592											OREG0022626	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	,	,		19481	0		0	False		,,,				2504	0.001				p.R830Q													.	.			0			c.G2489A												102	112	109					14																	24880356		2064	4214	6278	SO:0001583	missense	57523	exon5			GACACCGAGAGGT	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.2489G>A	14.37:g.24880356G>A	ENSP00000371994:p.Arg830Gln		106	0	0	774	86	0.2	17	NM_025081	66	0.27	18	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322741	0.95708	.	.	ENSG00000205978	ENST00000382554	T	0.46451	0.87	5.02	5.02	0.67125	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.50837	0.1639	L	0.33189	0.99	0.42380	D	0.992481	D	0.64830	0.994	P	0.61070	0.883	T	0.54180	-0.8332	9	0.87932	D	0	.	15.882	0.79211	0.0:0.0:1.0:0.0	.	830	Q9P2P1	NYNRI_HUMAN	Q	830	ENSP00000371994:R830Q	ENSP00000371994:R830Q	R	+	2	0	NYNRIN	23950196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.470000	0.90399	2.603000	0.88011	0.467000	0.42956	CGA			0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412939.1				A	24880356	G	A	24880356	3	1	69	1	0	0	0	0	1	0	0	0	10813	1058	37	1	2503	1	NYNRIN	14	24880356	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	2888767	24880356	82469184	49	4957											
OTUD7A	161725	mdanderson.org	37	chr15	31779760	31779760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgctcagaatccgtcaggGggatcacggctggaacagaa	11	7	14	9	2	3	2	3	0	0	2	4	4	4	4	1	4	2	2	1	4	3	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr15:31779760G>T	ENST00000307050.4	-	9	1252	c.1160C>A	c.(1159-1161)cCc>cAc	p.P387H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.P394H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	387	Catalytic. {ECO:0000250}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ATCCGTCAGGGGGATCACGGC	0.602																																					p.P387H													.	.			0			c.C1160A												62	55	57					15																	31779760		2202	4300	6502	SO:0001583	missense	161725	exon9			GTCAGGGGGATCA	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1160C>A	15.37:g.31779760G>T	ENSP00000305926:p.Pro387His		126	0	0		90	0.06	5	NM_130901	0		0	Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396364	0.83011	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	D;D	0.87491	-2.26;-2.21	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	M	0.80422	2.495	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94699	0.7881	10	0.87932	D	0	-20.7568	17.4453	0.87577	0.0:0.0:1.0:0.0	.	394;387	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	387;394	ENSP00000305926:P387H;ENSP00000372358:P394H	ENSP00000305926:P387H	P	-	2	0	OTUD7A	29567052	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	9.020000	0.93667	2.147000	0.66899	0.555000	0.69702	CCC			0.602	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251393.2		NM_130901		T	31779760	G	T	31779760	3	4	69	1	0	0	0	0	1	0	0	0	11335	1232	43	3	1632	3	OTUD7A	15	31779760	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		31779760	70751632	50	4958											
KLHL25	64410	mdanderson.org	37	chr15	86311959	86311959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcctcatgtacggtgtcGtacacccagacatccttgga	9	11	8	13	2	1	1	1	0	0	1	4	2	3	2	3	2	2	2	3	2	2	4			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr15:86311959G>A	ENST00000337975.5	-	2	1357	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Silent_p.Y361Y	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	361					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTACGGTGTCGTACACCCAGA	0.632																																					p.Y361Y													.	.			0			c.C1083T												41	39	40					15																	86311959		2202	4299	6501	SO:0001819	synonymous_variant	64410	exon2			GGTGTCGTACACC		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1083C>T	15.37:g.86311959G>A			71	0	0		39	0.08	3	NM_022480	9	0	0	B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	CCDS10339.1																																																																																					0.632	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000309023.1		NM_022480		A	86311959	G	A	86311959	2	1	69	1	0	0	0	0	0	0	0	1	8395	1140	40	1		1	KLHL25	15	86311959	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	54532199	86311959	16219433	51	4959											
IGFALS	3483	mdanderson.org	37	chr16	1840925	1840925	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgccaagaggctgttGggcaatgcctccaggcggtt	7	9	16	9	1	0	1	0	0	0	1	1	1	1	1	3	5	2	4	3	5	2	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr16:1840925G>T	ENST00000215539.3	-	2	1604	c.1494C>A	c.(1492-1494)ccC>ccA	p.P498P	IGFALS_ENST00000415638.3_Silent_p.P536P			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	498			P -> S (in dbSNP:rs9282730).		cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGAGGCTGTTGGGCAATGCCT	0.706																																					p.P536P													.	.			0			c.C1608A												10	11	11					16																	1840925		2167	4283	6450	SO:0001819	synonymous_variant	3483	exon2			GCTGTTGGGCAAT	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1494C>A	16.37:g.1840925G>T			15	0	0		13	0.15	2	NM_001146006	8	0	0	B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	CCDS10446.1																																																																																					0.706	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250509.2				T	1840925	G	T	1840925	2	4	69	1	0	0	0	0	0	0	0	1	7592	1335	47	3		3	IGFALS	16	1840925	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		1840925	88513828	52	4960											
AMDHD2	51005	mdanderson.org	37	chr16	2579075	2579075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagagtaaggggaccCtggactttggtgctgacgca	10	8	16	7	1	0	3	0	1	0	2	0	6	0	5	1	5	1	3	1	5	2	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr16:2579075C>A	ENST00000293971.6	+	10	1214	c.1120C>A	c.(1120-1122)Ctg>Atg	p.L374M	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.L404M|AMDHD2_ENST00000302956.4_Missense_Mutation_p.L404M|AMDHD2_ENST00000565570.1_Intron|MIR3178_ENST00000581887.1_RNA	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	374					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TAAGGGGACCCTGGACTTTGG	0.667																																					p.L404M													.	.			0			c.C1210A												37	33	34					16																	2579075		2193	4297	6490	SO:0001583	missense	51005	exon9			GGGACCCTGGACT	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.1120C>A	16.37:g.2579075C>A	ENSP00000293971:p.Leu374Met		35	0	0		28	0.11	3	NM_001145815	58	0	0	B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37		.	.	.	.	.	.	.	.	.	.	C	17.52	3.411256	0.62399	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;T	0.92446	-3.04;-3.04;0.38	5.28	4.23	0.50019	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.64402	D	0.000001	D	0.97377	0.9142	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	D	0.97429	1.0014	10	0.87932	D	0	.	10.8148	0.46569	0.0:0.8714:0.0:0.1286	.	404;374;404	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	M	404;404;374	ENSP00000391596:L404M;ENSP00000307481:L404M;ENSP00000293971:L374M	ENSP00000293971:L374M	L	+	1	2	AMDHD2	2519076	0.997000	0.39634	1.000000	0.80357	0.618000	0.37518	2.155000	0.42301	2.457000	0.83068	0.655000	0.94253	CTG			0.667	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000435652.1		NM_015944		A	2579075	C	A	2579075	3	1	69	1	0	0	0	0	1	0	0	0	568	680	24	3	1244	3	AMDHD2	16	2579075	Missense_Mutation	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	738150	2579075	87775678	53	4961											
OR2C1	4993	mdanderson.org	37	chr16	3406294	3406294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcctgctggtggtgatGgcatttgaccgctacgtggc	5	12	14	10	2	0	2	0	2	0	0	1	2	1	2	2	4	3	4	2	4	1	2	rs144910600		TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr16:3406294G>T	ENST00000304936.2	+	1	406	c.354G>T	c.(352-354)atG>atT	p.M118I		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	118					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						TGGTGGTGATGGCATTTGACC	0.612																																					p.M118I													.	.			0			c.G354T												48	39	42					16																	3406294		2197	4300	6497	SO:0001583	missense	4993	exon1			GGTGATGGCATTT	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.354G>T	16.37:g.3406294G>T	ENSP00000307726:p.Met118Ile		59	0.0169491525	1		50	0.06	3	NM_012368	0		0	A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	g	15.65	2.897701	0.52121	.	.	ENSG00000168158	ENST00000304936	T	0.01126	5.3	4.63	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000155	T	0.11965	0.0291	H	0.98155	4.16	0.39318	D	0.965198	D	0.89917	1.0	D	0.87578	0.998	T	0.02617	-1.1133	10	0.87932	D	0	.	10.7694	0.46314	0.0932:0.0:0.9068:0.0	.	118	O95371	OR2C1_HUMAN	I	118	ENSP00000307726:M118I	ENSP00000307726:M118I	M	+	3	0	OR2C1	3346295	1.000000	0.71417	0.998000	0.56505	0.371000	0.29859	7.462000	0.80851	1.175000	0.42826	0.509000	0.49947	ATG			0.612	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206993.3				T	3406294	G	T	3406294	3	4	69	1	0	0	0	0	1	0	0	0	11009	1348	47	3	356	3	OR2C1	16	3406294	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	827219	3406294	86948459	54	4962											
TFAP4	7023	bcgsc.ca;mdanderson.org	37	chr16	4312419	4312419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggctgtctgctggagaatgGctgcctgagggcgtggaaaa	8	8	17	8	2	1	2	0	1	1	1	1	4	1	3	1	5	2	3	1	5	3	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr16:4312419G>A	ENST00000204517.6	-	3	588	c.260C>T	c.(259-261)gCc>gTc	p.A87V		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	87	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTGGAGAATGGCTGCCTGAGG	0.602																																					p.A87V													.	TFAP4	31		0			c.C260T												95	89	91					16																	4312419		2197	4300	6497	SO:0001583	missense	7023	exon3			AGAATGGCTGCCT	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.260C>T	16.37:g.4312419G>A	ENSP00000204517:p.Ala87Val		64	0	0		89	0.06	5	NM_003223	61	0	0	O60409	Missense_Mutation	SNP	ENST00000204517.6	37	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	G	35	5.537451	0.96460	.	.	ENSG00000090447	ENST00000204517	D	0.97976	-4.64	5.53	5.53	0.82687	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.98948	1.0793	10	0.54805	T	0.06	.	19.0702	0.93130	0.0:0.0:1.0:0.0	.	87	Q01664	TFAP4_HUMAN	V	87	ENSP00000204517:A87V	ENSP00000204517:A87V	A	-	2	0	TFAP4	4252420	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.368000	0.97152	2.596000	0.87737	0.561000	0.74099	GCC			0.602	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251595.2		NM_003223		A	4312419	G	A	4312419	3	1	69	1	0	0	0	0	1	0	0	0	15815	1203	42	2	776	2	TFAP4	16	4312419	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	906125	4312419	86042334	55	4963											
GSPT1	2935	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	11990539	11990539	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggcactttcctctggCggccttccatctcccaagga	6	11	9	15	1	3	0	1	0	2	0	6	1	5	1	4	4	0	1	4	4	1	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr16:11990539C>A	ENST00000563468.1	-	2	152	c.126G>T	c.(124-126)ccG>ccT	p.P42P	GSPT1_ENST00000439887.2_Silent_p.P179P|GSPT1_ENST00000434724.2_Silent_p.P180P|GSPT1_ENST00000420576.2_Silent_p.P42P|RP11-166B2.8_ENST00000574364.1_RNA			P15170	ERF3A_HUMAN	G1 to S phase transition 1	42					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTTCCTCTGGCGGCCTTCCAT	0.488																																					p.P180P													.	GSPT1	71		0			c.G540T												87	81	83					16																	11990539		1914	4133	6047	SO:0001819	synonymous_variant	2935	exon4			CTCTGGCGGCCTT	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.126G>T	16.37:g.11990539C>A			142	0	0		196	0.33	65	NM_002094	58	0.33	19	J3KQG6|Q96GF2	Silent	SNP	ENST00000563468.1	37	CCDS45414.1																																																																																					0.488	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000421513.1		NM_002094		A	11990539	C	A	11990539	2	1	69	1	0	0	0	0	0	0	0	1	6841	755	27	1		1	GSPT1	16	11990539	Silent	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	7678120	11990539	78364214	56	4964											
PLA2G15	23659	mdanderson.org	37	chr16	68279456	68279456	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcaccccccagtggtgctgGgtgaggcacgggtctcgtgg	4	8	17	12	2	2	1	1	1	1	0	3	1	2	1	3	5	1	2	3	5	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr16:68279456G>T	ENST00000219345.5	+	1	210	c.127G>T	c.(127-129)Gtc>Ttc	p.V43F	PLA2G15_ENST00000413021.2_Splice_Site_p.G43C|PLA2G15_ENST00000566188.1_Splice_Site_p.V43F|PLA2G15_ENST00000444212.2_Splice_Site_p.G43*	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	43					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AGTGGTGCTGGGTGAGGCACG	0.697																																					p.V43F													.	.			0			c.G127T												21	17	18					16																	68279456		2185	4281	6466	SO:0001630	splice_region_variant	23659	exon1			GTGCTGGGTGAGG	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.127+1G>T	16.37:g.68279456G>T			23	0	0		16	0.13	2	NM_012320	22	0	0	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	CCDS10864.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	34|34|34	5.352395|5.352395|5.352395	0.95830|0.95830|0.95830	.|.|.	.|.|.	ENSG00000103066|ENSG00000103066|ENSG00000103066	ENST00000413021|ENST00000444212|ENST00000219345	D|.|D	0.97303|.|0.96587	-4.33|.|-4.06	4.24|4.24|4.24	4.24|4.24|4.24	0.50183|0.50183|0.50183	.|.|.	.|.|0.187798	.|.|0.47455	.|.|D	.|.|0.000238	D|.|D	0.95570|.|0.95570	0.8560|.|0.8560	M|M|M	0.86864|0.86864|0.86864	2.845|2.845|2.845	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|B;B	0.65815|.|0.29612	0.995|.|0.251;0.028	P|.|B;B	0.53649|.|0.22152	0.731|.|0.038;0.014	D|.|D	0.94909|.|0.94909	0.8063|.|0.8063	9|.|10	0.87932|0.72032|0.62326	D|D|D	0|0.01|0.03	0.2979|0.2979|0.2979	12.4253|12.4253|12.4253	0.55542|0.55542|0.55542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	43|.|43;43	B4DUD1|.|B4DJW4;Q8NCC3	.|.|.;PAG15_HUMAN	C|X|F	43|43|43	ENSP00000394197:G43C|.|ENSP00000219345:V43F	ENSP00000394197:G43C|ENSP00000393610:G43X|ENSP00000219345:V43F	G|G|V	+|+|+	1|1|1	0|0|0	PLA2G15|PLA2G15|PLA2G15	66836957|66836957|66836957	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.766000|0.766000|0.766000	0.43426|0.43426|0.43426	2.595000|2.595000|2.595000	0.46197|0.46197|0.46197	2.653000|2.653000|2.653000	0.90120|0.90120|0.90120	0.511000|0.511000|0.511000	0.50034|0.50034|0.50034	GGC|GGA|GTC			0.697	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268888.2		NM_012320	Missense_Mutation	T	68279456	G	T	68279456	5	4	69	1	0	0	0	0	0	0	1	0	12009	1246	43	3	129	3	PLA2G15	16	68279456	Splice_Site	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	56288917	68279456	22075297	57	4965											
ANKRD11	29123	broad.mit.edu	37	chr16	89346906	89346906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaggcgggaggggcggggTacggcgcctccgaggcgctg	5	3	23	10	6	0	1	0	0	0	1	1	4	1	2	2	8	1	2	2	8	1	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr16:89346906T>G	ENST00000301030.4	-	9	6504	c.6044A>C	c.(6043-6045)tAc>tCc	p.Y2015S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y2015S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2015	Pro-rich.				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)		AGGGGCGGGGTACGGCGCCTC	0.721																																					p.Y2015S													.	ANKRD11	195		0			c.A6044C																																									SO:0001583	missense	29123	exon9			GCGGGGTACGGCG	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.6044A>C	16.37:g.89346906T>G	ENSP00000301030:p.Tyr2015Ser		53	0.6981132075	37		58	0.52	30	NM_001256183	63	0.21	13	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	t	13.45	2.242091	0.39598	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.41065	1.01;1.01	5.29	4.16	0.48862	.	0.171432	0.38778	N	0.001561	T	0.30386	0.0763	L	0.34521	1.04	0.80722	D	1	B	0.22800	0.075	B	0.17098	0.017	T	0.04991	-1.0913	10	0.25751	T	0.34	.	11.0477	0.47867	0.1395:0.0:0.0:0.8605	.	2015	Q6UB99	ANR11_HUMAN	S	2015	ENSP00000301030:Y2015S;ENSP00000367581:Y2015S	ENSP00000301030:Y2015S	Y	-	2	0	ANKRD11	87874407	1.000000	0.71417	0.977000	0.42913	0.023000	0.10783	4.288000	0.59007	0.795000	0.33922	0.370000	0.22315	TAC			0.721	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		G	89346906	T	G	89346906	3	3	69	1	0	0	0	0	1	0	0	0	639	1638	57	4	1967	4	ANKRD11	16	89346906	Missense_Mutation	SNP	T	TCGA-2G-AALQ-01A-12D-A42Y-10	21067450	89346906	1007847	58	4966											
MSL1	339287	mdanderson.org	37	chr17	38288344	38288344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacccaaatccttcagaccTtttggaggtaggtaaccaag	12	9	10	10	0	1	1	1	0	0	1	2	3	2	3	4	4	1	2	4	4	4	5			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr17:38288344T>C	ENST00000398532.4	+	5	1796	c.1481T>C	c.(1480-1482)cTt>cCt	p.L494P	MSL1_ENST00000579565.1_Missense_Mutation_p.L231P|MSL1_ENST00000578648.1_Missense_Mutation_p.L478P	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	494					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CCTTCAGACCTTTTGGAGGTA	0.413																																					p.L231P													.	.			0			c.T692C												45	43	44					17																	38288344		1830	4084	5914	SO:0001583	missense	339287	exon6			CAGACCTTTTGGA		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1481T>C	17.37:g.38288344T>C	ENSP00000381543:p.Leu494Pro		60	0	0		47	0.06	3	NM_001012241	46	0	0	Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37		.	.	.	.	.	.	.	.	.	.	T	11.54	1.668736	0.29604	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.40756	1.02	5.99	5.99	0.97316	.	0.499471	0.23680	N	0.045637	T	0.31606	0.0802	N	0.04880	-0.145	0.80722	D	1	.	.	.	.	.	.	T	0.32322	-0.9911	8	0.46703	T	0.11	-23.2976	14.0175	0.64533	0.0:0.0:0.0:1.0	.	.	.	.	P	231;494	ENSP00000381543:L494P	ENSP00000341409:L231P	L	+	2	0	MSL1	35541870	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.581000	0.60949	2.291000	0.77112	0.533000	0.62120	CTT			0.413	MSL1-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000447409.2		NM_001012241		C	38288344	T	C	38288344	3	2	69	1	0	0	0	0	1	0	0	0	9893	1609	56	4	706	4	MSL1	17	38288344	Missense_Mutation	SNP	T	TCGA-2G-AALQ-01A-12D-A42Y-10		38288344	42906866	59	4967											
ACE	1636	mdanderson.org	37	chr17	61561704	61561704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccaggaaggtgctgcagGctggctcctccaggccctgg	6	6	14	15	0	0	0	0	0	0	0	2	1	2	1	5	6	2	4	5	6	1	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr17:61561704G>A	ENST00000290866.4	+	12	1747	c.1723G>A	c.(1723-1725)Gct>Act	p.A575T	ACE_ENST00000428043.1_Missense_Mutation_p.A575T|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000413513.3_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	575	Peptidase M2 1.				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)	GGTGCTGCAGGCTGGCTCCTC	0.652																																					p.A575T													.	.			0			c.G1723A												28	22	24					17																	61561704		2200	4293	6493	SO:0001583	missense	1636	exon12			CTGCAGGCTGGCT	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.1723G>A	17.37:g.61561704G>A	ENSP00000290866:p.Ala575Thr		38	0	0		37	0.08	3	NM_000789	6	0	0	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478768	0.26511	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.34667	1.35;1.35	4.97	2.9	0.33743	.	0.331628	0.35262	N	0.003336	T	0.53126	0.1777	M	0.76170	2.325	0.80722	D	1	P;B	0.35894	0.526;0.266	B;P	0.54590	0.367;0.756	T	0.50136	-0.8863	10	0.45353	T	0.12	-3.8439	9.0106	0.36139	0.0:0.2666:0.4591:0.2743	.	575;575	P12821-2;P12821	.;ACE_HUMAN	T	575	ENSP00000290866:A575T;ENSP00000397593:A575T	ENSP00000290866:A575T	A	+	1	0	ACE	58915436	1.000000	0.71417	0.313000	0.25210	0.026000	0.11368	3.080000	0.50112	0.634000	0.30469	0.462000	0.41574	GCT			0.652	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337675.2				A	61561704	G	A	61561704	3	1	69	1	0	0	0	0	1	0	0	0	136	1203	42	2	1769	2	ACE	17	61561704	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	23273360	61561704	19633506	60	4968											
SETBP1	26040	mdanderson.org	37	chr18	42531720	42531720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagagttgaaaactatGccaaatctccagcccatcag	13	11	6	11	0	3	2	2	1	1	1	4	2	3	2	3	0	3	1	3	0	4	4			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr18:42531720G>T	ENST00000282030.5	+	4	2711	c.2415G>T	c.(2413-2415)atG>atT	p.M805I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	805						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)		TGAAAACTATGCCAAATCTCC	0.507									Schinzel-Giedion syndrome																												p.M805I													.	.			0			c.G2415T												64	65	65					18																	42531720		2203	4300	6503	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AACTATGCCAAAT	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.2415G>T	18.37:g.42531720G>T	ENSP00000282030:p.Met805Ile		69	0	0		46	0.07	3	NM_015559	4	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	19.90	3.911970	0.72983	.	.	ENSG00000152217	ENST00000282030	D	0.88975	-2.45	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	N	0.19112	0.55	0.54753	D	0.999986	D	0.67145	0.996	P	0.61874	0.895	D	0.90457	0.4443	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	805	Q9Y6X0	SETBP_HUMAN	I	805	ENSP00000282030:M805I	ENSP00000282030:M805I	M	+	3	0	SETBP1	40785718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	ATG			0.507	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255854.4		NM_001130110		T	42531720	G	T	42531720	3	4	69	1	0	0	0	0	1	0	0	0	14152	1319	46	2	2618	2	SETBP1	18	42531720	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		42531720	35545528	61	4969											
MYO5B	4645	ucsc.edu	37	chr18	47429149	47429149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgctggaagtgcctgcgtgCcatccagccccgcacgtgct	5	7	12	17	4	0	0	0	0	0	0	1	1	1	1	6	1	5	3	6	1	1	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr18:47429149C>T	ENST00000285039.7	-	21	2925	c.2626G>A	c.(2626-2628)Gca>Aca	p.A876T	MYO5B_ENST00000324581.6_Missense_Mutation_p.A17T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	876	Arg-rich.|IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGCCTGCGTGCCATCCAGCCC	0.607																																					p.A876T													.	MYO5B	178		0			c.G2626A												26	30	29					18																	47429149		2040	4191	6231	SO:0001583	missense	4645	exon21			TGCGTGCCATCCA	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2626G>A	18.37:g.47429149C>T	ENSP00000285039:p.Ala876Thr		15	0	0		21	0.19	4	NM_001080467	5	0	0	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194027	0.94960	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.38401	1.14;1.14	5.63	5.63	0.86233	.	0.217059	0.38548	N	0.001644	T	0.53367	0.1792	L	0.59912	1.85	0.58432	D	0.999999	P;D	0.59767	0.784;0.986	P;P	0.56648	0.573;0.803	T	0.50759	-0.8790	10	0.56958	D	0.05	.	19.6675	0.95898	0.0:1.0:0.0:0.0	.	876;17	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	T	876;17	ENSP00000285039:A876T;ENSP00000315531:A17T	ENSP00000285039:A876T	A	-	1	0	MYO5B	45683147	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.934000	0.48956	2.826000	0.97356	0.655000	0.94253	GCA			0.607	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448515.2				T	47429149	C	T	47429149	3	4	69	1	0	0	0	0	1	0	0	0	10095	739	26	2	3000	2	MYO5B	18	47429149	Missense_Mutation	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	4897429	47429149	30648099	62	4970											
GRP	2922	mdanderson.org	37	chr18	56887564	56887564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcgccccgggggcgaGcggtcccgctgcctgcgggc	1	4	19	17	6	0	0	0	0	0	0	1	1	1	0	5	5	3	1	5	5	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr18:56887564G>T	ENST00000256857.2	+	1	165	c.67G>T	c.(67-69)Gcg>Tcg	p.A23S	GRP_ENST00000529320.2_Missense_Mutation_p.A23S|GRP_ENST00000420468.2_Missense_Mutation_p.A23S	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	23					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				CCGGGGGCGAGCGGTCCCGCT	0.761																																					p.A23S													.	.			0			c.G67T												3	5	4					18																	56887564		1988	3837	5825	SO:0001583	missense	2922	exon1			GGGCGAGCGGTCC		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"Endogenous ligands"	4605	protein-coding gene	gene with protein product	"bombesin", "neuromedin C", "prepro-GRP"	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.67G>T	18.37:g.56887564G>T	ENSP00000256857:p.Ala23Ser		14	0	0		15	0.2	3	NM_001012512	7	0	0	P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP	ENST00000256857.2	37	CCDS11971.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623379	0.46840	.	.	ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468	T;T;T	0.47177	0.85;0.93;0.87	4.02	2.21	0.28008	.	0.090124	0.42172	D	0.000754	T	0.41903	0.1179	L	0.34521	1.04	0.23180	N	0.99816	P;P;D	0.55172	0.869;0.916;0.97	P;B;P	0.51193	0.475;0.409;0.662	T	0.21999	-1.0229	10	0.48119	T	0.1	-6.5056	7.6949	0.28590	0.2047:0.0:0.7953:0.0	.	23;23;23	P07492-3;P07492;P07492-2	.;GRP_HUMAN;.	S	23	ENSP00000256857:A23S;ENSP00000434101:A23S;ENSP00000389696:A23S	ENSP00000256857:A23S	A	+	1	0	GRP	55038544	0.971000	0.33674	0.292000	0.24919	0.651000	0.38670	1.921000	0.40035	0.361000	0.24292	0.549000	0.68633	GCG			0.761	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256131.2		NM_002091		T	56887564	G	T	56887564	3	4	69	1	0	0	0	0	1	0	0	0	6820	971	34	2	69	2	GRP	18	56887564	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	9458415	56887564	21189684	63	4971											
APC2	10297	mdanderson.org	37	chr19	1467050	1467050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccgactgccgggagcgctgCcggctgccatctgagctgga	5	6	16	14	4	1	1	0	1	1	0	1	4	1	3	4	3	5	3	4	3	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr19:1467050C>T	ENST00000535453.1	+	14	5463	c.3750C>T	c.(3748-3750)tgC>tgT	p.C1250C	APC2_ENST00000233607.2_Silent_p.C1250C|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.C976C			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		GGGAGCGCTGCCGGCTGCCAT	0.687																																					p.C1250C													.	.			0			c.C3750T												16	17	17					19																	1467050		2157	4228	6385	SO:0001819	synonymous_variant	10297	exon15			GCGCTGCCGGCTG		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3750C>T	19.37:g.1467050C>T			48	0	0		44	0.07	3	NM_005883	4	0	0	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	CCDS12068.1																																																																																					0.687	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449539.2		NM_005883		T	1467050	C	T	1467050	2	4	69	1	0	0	0	0	0	0	0	1	764	747	26	2		2	APC2	19	1467050	Silent	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10		1467050	57661933	64	4972											
MEX3D	399664	mdanderson.org	37	chr19	1556639	1556639	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcgcttgatggtggcGcccttgggccccaccaccag	5	8	14	14	2	0	1	0	1	0	0	0	2	0	2	5	4	1	1	5	4	0	2			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr19:1556639G>T	ENST00000402693.4	-	2	878	c.879C>A	c.(877-879)ggC>ggA	p.G293G	MEX3D_ENST00000388824.6_Silent_p.G293G|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	293	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		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)		TGATGGTGGCGCCCTTGGGCC	0.716																																					p.G293G													.	.			0			c.C879A												22	24	23					19																	1556639		2195	4295	6490	SO:0001819	synonymous_variant	399664	exon2			GGTGGCGCCCTTG	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	16734	protein-coding gene	gene with protein product	"bcl-2 ARE RNA binding protein"	611009	"ring finger and KH domain containing 1", "mex-3 homolog D (C. elegans)"	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.879C>A	19.37:g.1556639G>T			42	0	0		23	0.13	3	NM_001174118	42	0	0	A0PJL8|A1L023|E9PAL6|Q71M49	Silent	SNP	ENST00000402693.4	37	CCDS32865.2																																																																																					0.716	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317870.2		NM_203304		T	1556639	G	T	1556639	2	4	69	1	0	0	0	0	0	0	0	1	9528	1074	38	1		1	MEX3D	19	1556639	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	89589	1556639	57572344	65	4973											
CPAMD8	27151	mdanderson.org	37	chr19	17038840	17038840	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgatggaggcggtggctcGctcagacccagggatggcgc	7	6	18	10	3	1	2	1	1	0	1	2	5	1	4	1	6	0	2	1	6	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr19:17038840G>T	ENST00000443236.1	-	25	3521	c.3490C>A	c.(3490-3492)Cga>Aga	p.R1164R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1117						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCGGTGGCTCGCTCAGACCCA	0.617																																					p.R1164R													.	.			0			c.C3490A												42	51	48					19																	17038840		2036	4175	6211	SO:0001819	synonymous_variant	27151	exon25			TGGCTCGCTCAGA	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3490C>A	19.37:g.17038840G>T			76	0	0		72	0.06	4	NM_015692	18	0	0	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	1.142	-0.649320	0.03506	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.02	1.9	0.25705	.	.	.	.	.	T	0.55609	0.1931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51568	-0.8689	4	.	.	.	.	7.8107	0.29230	0.0:0.0:0.3646:0.6354	.	.	.	.	R	1174	.	.	S	-	3	2	CPAMD8	16899840	1.000000	0.71417	0.658000	0.29665	0.098000	0.18820	5.239000	0.65371	1.237000	0.43756	0.655000	0.94253	AGC			0.617	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257531.2		NM_015692		T	17038840	G	T	17038840	2	4	69	1	0	0	0	0	0	0	0	1	3797	1095	38	1		1	CPAMD8	19	17038840	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	15482201	17038840	42090143	66	4974											
NCCRP1	342897	mdanderson.org	37	chr19	39691041	39691041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgcatgtctggctgctgGcggccgaccgccgcacggtc	4	7	15	15	5	1	0	0	0	1	0	2	1	1	0	3	4	3	5	3	4	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr19:39691041G>T	ENST00000339852.4	+	5	626	c.604G>T	c.(604-606)Gcg>Tcg	p.A202S		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	202	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CTGGCTGCTGGCGGCCGACCG	0.667																																					p.A202S	Melanoma(107;1207 1556 14956 29427 52130)												NCCRP1,colon,carcinoma,-1,1	NCCRP1	-1	1	0			c.G604T												67	77	74					19																	39691041		2203	4300	6503	SO:0001583	missense	342897	exon5			CTGCTGGCGGCCG	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.604G>T	19.37:g.39691041G>T	ENSP00000342137:p.Ala202Ser		55	0	0		46	0.07	3	NM_001001414	15	0	0	Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154528	0.38021	.	.	ENSG00000188505	ENST00000339852	T	0.27557	1.66	5.23	4.12	0.48240	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.246767	0.39475	N	0.001349	T	0.26011	0.0634	N	0.11106	0.095	0.39503	D	0.96823	D	0.56287	0.975	P	0.59012	0.85	T	0.02484	-1.1152	10	0.06891	T	0.86	-20.2361	12.9656	0.58481	0.0:0.164:0.836:0.0	.	202	Q6ZVX7	NCRP1_HUMAN	S	202	ENSP00000342137:A202S	ENSP00000342137:A202S	A	+	1	0	NCCRP1	44382881	1.000000	0.71417	0.991000	0.47740	0.059000	0.15707	5.499000	0.66937	2.455000	0.83008	0.561000	0.74099	GCG			0.667	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463829.1		NM_001001414		T	39691041	G	T	39691041	3	4	69	1	0	0	0	0	1	0	0	0	10230	1203	42	2	622	2	NCCRP1	19	39691041	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	22652201	39691041	19437942	67	4975											
FIZ1	84922	mdanderson.org	37	chr19	56109217	56109217	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgcaggggttggggcGgggacgtcatccatggtggc	4	8	21	8	2	1	0	1	0	0	0	2	1	2	1	1	9	1	3	1	9	0	1	rs537566398		TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr19:56109217G>T	ENST00000221665.3	-	2	104	c.15C>A	c.(13-15)ccC>ccA	p.P5P	FIZ1_ENST00000592585.1_Silent_p.P5P|ZNF524_ENST00000301073.3_5'Flank	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	5					positive regulation of protein phosphorylation (GO:0001934)|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)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGGTTGGGGCGGGGACGTCAT	0.662																																					p.P5P													.	.			0			c.C15A												9	10	10					19																	56109217		2188	4272	6460	SO:0001819	synonymous_variant	84922	exon2			TGGGGCGGGGACG	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.15C>A	19.37:g.56109217G>T			41	0	0		41	0.07	3	NM_032836	10	0	0	A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	CCDS12928.1																																																																																					0.662	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453350.1		NM_032836		T	56109217	G	T	56109217	2	4	69	1	0	0	0	0	0	0	0	1	5913	1103	39	1		1	FIZ1	19	56109217	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	16418176	56109217	3019766	68	4976											
ZSCAN18	65982	mdanderson.org	37	chr19	58600117	58600117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggggctcgcgagctcgCctggtagcagcagagggtcc	5	6	18	12	3	0	1	0	0	0	1	3	2	1	1	2	5	3	6	2	5	1	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr19:58600117C>G	ENST00000240727.6	-	3	890	c.491G>C	c.(490-492)gGc>gCc	p.G164A	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.G164A|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.G220A|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.G29A	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	164					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)		CGCGAGCTCGCCTGGTAGCAG	0.642																																					p.G220A													.	.			0			c.G659C												42	40	41					19																	58600117		2203	4300	6503	SO:0001583	missense	65982	exon3			AGCTCGCCTGGTA	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.491G>C	19.37:g.58600117C>G	ENSP00000240727:p.Gly164Ala		43	0	0		30	0.07	2	NM_001145542	41	0	0	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.589787	0.00864	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02140	4.61;4.43	2.43	1.35	0.21983	.	.	.	.	.	T	0.01124	0.0037	N	0.14661	0.345	0.09310	N	1	B;P;B;B;P	0.39216	0.127;0.601;0.049;0.201;0.664	B;B;B;B;B	0.32393	0.091;0.091;0.005;0.115;0.145	T	0.38628	-0.9652	9	0.07325	T	0.83	0.5303	6.2885	0.21047	0.3373:0.6627:0.0:0.0	.	220;29;234;164;164	B4DG23;E9PBI0;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;.;ZSC18_HUMAN	A	220;164;29	ENSP00000240727:G164A;ENSP00000392653:G29A	ENSP00000240727:G164A	G	-	2	0	ZSCAN18	63291929	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	0.278000	0.18753	0.540000	0.28808	-0.397000	0.06425	GGC			0.642	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000466706.1		NM_023926		G	58600117	C	G	58600117	3	3	69	1	0	0	0	0	1	0	0	0	18253	739	26	5	1061	5	ZSCAN18	19	58600117	Missense_Mutation	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	2490900	58600117	528866	69	4977											
PTPRT	11122	broad.mit.edu;mdanderson.org	37	chr20	40730919	40730919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcctcgggccgcacacgggGtgtcacaatgttgagggtct	6	9	15	11	3	2	1	1	1	1	0	4	1	3	1	2	4	0	2	2	4	1	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr20:40730919G>T	ENST00000373187.1	-	26	3558	c.3559C>A	c.(3559-3561)Ccc>Acc	p.P1187T	PTPRT_ENST00000373198.4_Missense_Mutation_p.P1206T|PTPRT_ENST00000373201.1_Missense_Mutation_p.P1177T|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1190T|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1186T|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1197T|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1196T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1187	Tyrosine-protein phosphatase 2. {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)				CGCACACGGGGTGTCACAATG	0.567																																					p.P1206T													.	PTPRT	372		0			c.C3616A												52	55	54					20																	40730919		2050	4220	6270	SO:0001583	missense	11122	exon27			CACGGGGTGTCAC	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.3559C>A	20.37:g.40730919G>T	ENSP00000362283:p.Pro1187Thr		46	0	0		66	0.06	4	NM_133170	3	0	0	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502139	0.85176	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5	5.49	5.49	0.81192	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.11867	-1.0570	10	0.87932	D	0	.	19.3736	0.94500	0.0:0.0:1.0:0.0	.	1209;1187	O14522-1;O14522	.;PTPRT_HUMAN	T	1186;1187;1190;1196;1209;1197;1177	ENSP00000362286:P1186T;ENSP00000362283:P1187T;ENSP00000362289:P1190T;ENSP00000348408:P1196T;ENSP00000362294:P1209T;ENSP00000362280:P1197T;ENSP00000362297:P1177T	ENSP00000348408:P1196T	P	-	1	0	PTPRT	40164333	1.000000	0.71417	0.615000	0.29064	0.791000	0.44710	9.869000	0.99810	2.592000	0.87571	0.655000	0.94253	CCC			0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000080315.1				T	40730919	G	T	40730919	3	4	69	1	0	0	0	0	1	0	0	0	12835	1261	44	3	790	3	PTPRT	20	40730919	Missense_Mutation	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		40730919	22294601	70	4978											
ELMO2	63916	mdanderson.org	37	chr20	45000326	45000326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctggatcttctccctcaGctccctggggtggacacaca	6	9	12	14	0	3	0	1	0	2	0	5	2	4	2	2	5	1	2	2	5	0	1	rs149080790		TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr20:45000326G>A	ENST00000290246.6	-	18	1779	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L	ELMO2_ENST00000352077.2_Silent_p.L527L|ELMO2_ENST00000445496.2_Silent_p.L346L|ELMO2_ENST00000372176.1_Silent_p.L441L|ELMO2_ENST00000396391.1_Silent_p.L529L|ELMO2_ENST00000454865.2_Silent_p.L261L|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000439931.2_Silent_p.L541L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	529					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTCTCCCTCAGCTCCCTGGGG	0.627													G|||	1	0.000199681	0	0	5008	,	,		19624	0		0.001	False		,,,				2504	0				p.L529L													.	.			0			c.C1585T							G	,	1,4405	2.1+/-5.4	0,1,2202	38	39	39		1585,1585	3.7	1	20	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ELMO2	NM_133171.3,NM_182764.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	529/721,529/721	45000326	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	63916	exon18			CCCTCAGCTCCCT	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1585C>T	20.37:g.45000326G>A			31	0	0		51	0.06	3	NM_133171	49	0	0	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	CCDS13398.1																																																																																			0		0.627	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080466.1		NM_022086		A	45000326	G	A	45000326	2	1	69	1	0	0	0	0	0	0	0	1	5073	962	34	2		2	ELMO2	20	45000326	Silent	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10	4269407	45000326	18025194	71	4979											
TRMU	55687	mdanderson.org	37	chr22	46731700	46731700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgtgcgccctgtccggCggcgtggacagcgccgtggc	2	7	18	14	7	0	0	0	0	0	0	2	1	1	1	3	4	2	0	3	4	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chr22:46731700C>T	ENST00000290846.4	+	1	379	c.39C>T	c.(37-39)ggC>ggT	p.G13G	TRMU_ENST00000381019.3_Silent_p.G13G|TRMU_ENST00000424260.2_5'Flank	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	13					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCCTGTCCGGCGGCGTGGACA	0.726																																					p.G13G													.	.			0			c.C39T												7	8	8					22																	46731700		2071	4048	6119	SO:0001819	synonymous_variant	55687	exon1			GTCCGGCGGCGTG	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.39C>T	22.37:g.46731700C>T			17	0	0		19	0.11	2	NM_018006	23	0	0	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	ENST00000290846.4	37	CCDS14075.1																																																																																					0.726	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318042.2		NM_018006		T	46731700	C	T	46731700	2	4	69	1	0	0	0	0	0	0	0	1	16595	755	27	1		1	TRMU	22	46731700	Silent	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10		46731700	4572866	72	4980											
FAM48B1	100130302	hgsc.bcm.edu;mdanderson.org	37	chrX	24382423	24382423	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctcctgctcctgctcta	1	14	10	16	0	1	0	0	0	1	0	3	0	3	0	2	0	10	10	2	0	1	1			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chrX:24382423G>C								AC004552.1 (15400 upstream) : PDK3 (100914 downstream)																							tgctgctgctgctgctcctgc	0.617																																					p.A516P													.	.			0			c.G1546C																																									SO:0001628	intergenic_variant	100130302	exon1			GCTGCTGCTGCTC																													X.37:g.24382423G>C			53	0	0		150	0.07	10	NM_001136234	0		0		Missense_Mutation	SNP		37																																																																																					0	0.617											C	24382423	G	C	24382423	1	2	69	0	1	0	0	0	0	0	0	0	5586	1319	46	5		5	FAM48B1	23	24382423	IGR	SNP	G	TCGA-2G-AALQ-01A-12D-A42Y-10		24382423	130888137	73	4981											
OCRL	4952	broad.mit.edu	37	chrX	128691868	128691868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcttgttccagagcaaaAggactcatctagctggtacc	10	11	9	11	0	3	1	1	0	2	1	4	2	4	2	2	2	3	5	2	2	4	5			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chrX:128691868A>G	ENST00000371113.4	+	6	545	c.380A>G	c.(379-381)aAg>aGg	p.K127R	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.K127R	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	127					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						CCAGAGCAAAAGGACTCATCT	0.403																																					p.K127R													.	OCRL	117		0			c.A380G												192	178	183					X																	128691868		2203	4300	6503	SO:0001583	missense	4952	exon6			AGCAAAAGGACTC	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.380A>G	X.37:g.128691868A>G	ENSP00000360154:p.Lys127Arg		357	0.0028011204	1		708	0.01	8	NM_000276	18	0	0	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438854	0.25900	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94376	-3.41;-3.41	5.03	2.29	0.28610	.	0.208135	0.36893	N	0.002357	D	0.83119	0.5185	N	0.17082	0.46	0.34427	D	0.698088	B;B	0.14438	0.01;0.003	B;B	0.11329	0.006;0.003	T	0.74213	-0.3738	10	0.07325	T	0.83	.	8.5421	0.33399	0.797:0.0:0.203:0.0	.	127;127	Q01968-2;Q01968	.;OCRL_HUMAN	R	127	ENSP00000360154:K127R;ENSP00000349635:K127R	ENSP00000349635:K127R	K	+	2	0	OCRL	128519549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.424000	0.34848	0.605000	0.29947	0.486000	0.48141	AAG			0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058917.1		NM_000276		G	128691868	A	G	128691868	3	3	69	1	0	0	0	0	1	0	0	0	10840	72	3	4	402	4	OCRL	23	128691868	Missense_Mutation	SNP	A	TCGA-2G-AALQ-01A-12D-A42Y-10	104309445	128691868	26578692	74	4982											
GPC3	2719	broad.mit.edu	37	chrX	133119396	133119396	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtccggcggcggcggCgggggctgcgcctgtcccgg	0	5	22	14	8	0	0	0	0	0	0	2	0	2	0	3	8	1	1	3	8	0	0			TCGA-2G-AALQ-01A-12D-A42Y-10	TCGA-2G-AALQ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3a396cd3-efe4-4bfb-9ade-41334932b612	0cd78c24-0592-4be8-8ef7-6b1c1858fc01	g.chrX:133119396C>G	ENST00000370818.3	-	1	526	c.81G>C	c.(79-81)ccG>ccC	p.P27P	GPC3_ENST00000394299.2_Silent_p.P27P|GPC3_ENST00000543339.1_Silent_p.P27P	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	27					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GCGGCGGCGGCGGGGGCTGCG	0.687			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.P27P			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3	88		0			c.G81C												14	14	14					X																	133119396		2189	4277	6466	SO:0001819	synonymous_variant	2719	exon1	Familial Cancer Database	SGBS	CGGCGGCGGGGGC	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.81G>C	X.37:g.133119396C>G			139	0.0071942446	1		245	0.02	5	NM_001164617	869	0	2	C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	CCDS14638.1																																																																																					0.687	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058356.1		NM_004484		G	133119396	C	G	133119396	2	3	69	1	0	0	0	0	0	0	0	1	6613	755	27	5		5	GPC3	23	133119396	Silent	SNP	C	TCGA-2G-AALQ-01A-12D-A42Y-10	4427528	133119396	22151164	75	4983											
PIK3CD	5293	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	9780069	9780069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctacatgtggccctccGtcccaggtcggcccaggccc	4	7	11	19	2	1	0	0	0	1	0	4	0	3	0	6	4	1	0	6	4	1	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:9780069G>A	ENST00000377346.4	+	10	1528	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	PIK3CD_ENST00000543390.1_Missense_Mutation_p.V112I|PIK3CD_ENST00000361110.2_Missense_Mutation_p.V410I|PIK3CD_ENST00000536656.1_Missense_Mutation_p.V410I	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	445	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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)	GTGGCCCTCCGTCCCAGGTCG	0.612																																					p.V445I													.	.			0			c.G1333A												102	96	98					1																	9780069		2203	4300	6503	SO:0001583	missense	5293	exon10			CCCTCCGTCCCAG		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.1333G>A	1.37:g.9780069G>A	ENSP00000366563:p.Val445Ile		137	0	0		116	0.09	11	NM_005026	12	0.17	2	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711572	0.48517	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.5	5.5	0.81552	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	1.915380	0.02596	N	0.100497	T	0.72179	0.3428	L	0.40543	1.245	0.22911	N	0.998579	B;P;P	0.48230	0.253;0.586;0.907	B;B;B	0.40375	0.117;0.149;0.327	T	0.58999	-0.7536	10	0.09843	T	0.71	-31.4328	12.5004	0.55952	0.0:0.0:0.7193:0.2807	.	445;410;445	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	I	410;445;410;410;112	ENSP00000446444:V410I;ENSP00000366563:V445I;ENSP00000354410:V410I;ENSP00000443811:V112I	ENSP00000353766:V410I	V	+	1	0	PIK3CD	9702656	0.988000	0.35896	0.213000	0.23690	0.416000	0.31233	4.465000	0.60141	2.590000	0.87494	0.462000	0.41574	GTC			0.612	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004235.1		NM_005026		A	9780069	G	A	9780069	3	1	70	1	0	0	0	0	1	0	0	0	11932	1145	40	1	1363	1	PIK3CD	1	9780069	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		9780069	239470552	1	4984											
HTR6	3362	mdanderson.org	37	chr1	20005666	20005666	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctgcccctgccgccGgactcagattcggactcaga	6	7	11	17	4	2	2	2	0	0	2	3	4	2	4	5	2	3	1	5	2	0	1	rs201944154		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:20005666G>T	ENST00000289753.1	+	3	1595	c.1128G>T	c.(1126-1128)ccG>ccT	p.P376P		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	376					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		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;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CCCTGCCGCCGGACTCAGATT	0.736																																					p.P376P	Esophageal Squamous(168;1879 2619 6848 21062)												.	.			0			c.G1128T												5	7	7					1																	20005666		2108	4164	6272	SO:0001819	synonymous_variant	3362	exon3			GCCGCCGGACTCA	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1128G>T	1.37:g.20005666G>T			32	0	0		23	0.09	2	NM_000871	0		0	Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	CCDS197.1																																																																																					0.736	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007704.1		NM_000871		T	20005666	G	T	20005666	2	4	70	1	0	0	0	0	0	0	0	1	7466	1103	39	1		1	HTR6	1	20005666	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	10225597	20005666	229244955	2	4985											
TMEM39B	55116	mdanderson.org	37	chr1	32541383	32541383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacatctacaagacagtgtGgtggtatccaccttcccacc	11	9	7	14	0	1	1	0	0	1	1	3	1	3	1	4	2	2	1	4	2	4	3			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:32541383G>T	ENST00000336294.5	+	3	457	c.311G>T	c.(310-312)tGg>tTg	p.W104L	TMEM39B_ENST00000373634.4_5'UTR|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000427288.1_5'UTR|RP11-277A4.4_ENST00000366152.3_RNA|TMEM39B_ENST00000456834.2_Missense_Mutation_p.W104L	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	104						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGACAGTGTGGTGGTATCCA	0.537																																					p.W104L													.	.			0			c.G311T												71	54	59					1																	32541383		692	1591	2283	SO:0001583	missense	55116	exon3			CAGTGTGGTGGTA	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.311G>T	1.37:g.32541383G>T	ENSP00000338165:p.Trp104Leu		67	0	0		43	0.07	3	NM_018056	30	0	0	B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738367	0.89573	.	.	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000456834	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.86313	0.1687	9	0.87932	D	0	-9.3944	18.7717	0.91894	0.0:0.0:1.0:0.0	.	104	Q9GZU3	TM39B_HUMAN	L	104	.	ENSP00000338165:W104L	W	+	2	0	TMEM39B	32313970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.385000	0.97223	2.511000	0.84671	0.555000	0.69702	TGG			0.537	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011489.2		NM_018056		T	32541383	G	T	32541383	3	4	70	1	0	0	0	0	1	0	0	0	16185	1357	47	3	321	3	TMEM39B	1	32541383	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	12535717	32541383	216709238	3	4986											
TMCO2	127391	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	40713810	40713810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gactattagataatcttgctCcagctgtgcaaatcatcttg	11	14	7	9	0	3	1	1	0	2	1	4	2	4	1	1	0	3	3	1	0	4	5			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:40713810C>G	ENST00000372766.3	+	1	238	c.145C>G	c.(145-147)Cca>Gca	p.P49A	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	49						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	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;6.3e-18)			TAATCTTGCTCCAGCTGTGCA	0.378																																					p.P49A													TMCO2,NS,carcinoma,0,1	TMCO2	0	1	0			c.C145G												178	180	180					1																	40713810		2203	4300	6503	SO:0001583	missense	127391	exon1			CTTGCTCCAGCTG	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.145C>G	1.37:g.40713810C>G	ENSP00000361852:p.Pro49Ala		109	0	0		129	0.24	31	NM_001008740	0		0		Missense_Mutation	SNP	ENST00000372766.3	37	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	C	7.851	0.724062	0.15439	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.34	4.41	0.53225	.	0.000000	0.49916	D	0.000136	T	0.41259	0.1151	L	0.29908	0.895	0.31962	N	0.608231	D	0.60160	0.987	P	0.53518	0.728	T	0.48115	-0.9063	9	0.31617	T	0.26	-10.0752	11.8116	0.52185	0.0:0.8239:0.1761:0.0	.	49	Q7Z6W1	TMCO2_HUMAN	A	49	.	ENSP00000361852:P49A	P	+	1	0	TMCO2	40486397	0.995000	0.38212	0.989000	0.46669	0.023000	0.10783	1.990000	0.40717	1.467000	0.48044	0.650000	0.86243	CCA			0.378	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000015769.1		NM_001008740		G	40713810	C	G	40713810	3	3	70	1	0	0	0	0	1	0	0	0	16019	855	30	5	147	5	TMCO2	1	40713810	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	8172427	40713810	208536811	4	4987											
NFIA	4774	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	61548476	61548477	+	Frame_Shift_Del	DEL	CT	CT	-																															cggcagttatgtattctccgCtctgtctcacccaggtaagc																										TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	CT	CT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:61548476_61548477delCT	ENST00000403491.3	+	1	497_498	c.13_14delCT	c.(13-15)ctcfs	p.L5fs	NFIA_ENST00000485903.2_Frame_Shift_Del_p.L5fs|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000407417.3_Intron|NFIA_ENST00000371191.1_Intron|NFIA_ENST00000371184.2_Frame_Shift_Del_p.L5fs|NFIA_ENST00000371189.4_Frame_Shift_Del_p.L50fs|AC096534.1_ENST00000584315.1_RNA|NFIA_ENST00000371185.2_Frame_Shift_Del_p.L5fs|NFIA_ENST00000371187.3_Frame_Shift_Del_p.L5fs	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	5					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						GTATTCTCCGCTCTGTCTCACC	0.698																																					p.49_50del													.	NFIA	76		0			c.147_148del																																									SO:0001589	frameshift_variant	4774	exon2			TCTCCGCTCTGTC	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.13_14delCT	1.37:g.61548478_61548479delCT	ENSP00000384523:p.Leu5fs		294	0	0		351	0.27	94	NM_001145512	22	0	0	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Frame_Shift_Del	DEL	ENST00000403491.3	37	CCDS44156.1																																																																																					0.698	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023799.3		NM_005595		-	61548477	CT	-	61548476	7	5	70	1	0	1	0	1	0	0	0	0	10387	797	28	0	161	0	NFIA	1	61548476	Frame_Shift_Del	DEL	CT	TCGA-2G-AALR-01A-21D-A42Y-10	20834666	61548476	187702145	5	4988											
CLCA1	1179	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	86959124	86959124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaatggcacagtgatcGtggacagcaccgtgggaaag	12	6	16	7	2	0	2	0	2	0	0	1	5	0	5	1	4	1	2	1	4	2	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:86959124G>A	ENST00000234701.3	+	11	1873	c.1522G>A	c.(1522-1524)Gtg>Atg	p.V508M	CLCA1_ENST00000394711.1_Missense_Mutation_p.V508M			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	508					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)		CACAGTGATCGTGGACAGCAC	0.493																																					p.V508M													CLCA1,colon,carcinoma,-2,1	CLCA1	-2	1	0			c.G1522A												175	139	151					1																	86959124		2203	4300	6503	SO:0001583	missense	1179	exon10			GTGATCGTGGACA		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.1522G>A	1.37:g.86959124G>A	ENSP00000234701:p.Val508Met		148	0	0		138	0.07	9	NM_001285	0		0	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282018	0.59867	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.38722	1.12;1.12	5.7	3.79	0.43588	Domain of unknown function DUF1973 (1);	0.247644	0.33610	N	0.004736	T	0.41465	0.1160	L	0.61036	1.89	0.30598	N	0.760844	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.38950	-0.9637	10	0.52906	T	0.07	-6.5351	6.6974	0.23207	0.1534:0.0:0.6998:0.1468	.	508;271	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	M	508;508;221	ENSP00000234701:V508M;ENSP00000378200:V508M	ENSP00000234701:V508M	V	+	1	0	CLCA1	86731712	0.956000	0.32656	0.870000	0.34147	0.919000	0.55068	1.550000	0.36223	0.727000	0.32360	0.557000	0.71058	GTG			0.493	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000028277.1		NM_001285		A	86959124	G	A	86959124	3	1	70	1	0	0	0	0	1	0	0	0	3459	1145	40	1	1560	1	CLCA1	1	86959124	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	25410648	86959124	162291497	6	4989											
CHRNB2	1141	mdanderson.org	37	chr1	154544318	154544318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgaaggtcgtcttccTggagaagctgcccgcgctgc	5	9	15	12	3	1	2	0	1	1	1	3	3	2	2	2	3	3	2	2	3	2	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:154544318T>C	ENST00000368476.3	+	5	1283	c.1019T>C	c.(1018-1020)cTg>cCg	p.L340P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	340					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|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)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GTCGTCTTCCTGGAGAAGCTG	0.677																																					p.L340P													.	.			0			c.T1019C												55	38	44					1																	154544318		2203	4300	6503	SO:0001583	missense	1141	exon5			TCTTCCTGGAGAA	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1019T>C	1.37:g.154544318T>C	ENSP00000357461:p.Leu340Pro		43	0	0		39	0.08	3	NM_000748	1	0	0	Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085567	0.55861	.	.	ENSG00000160716	ENST00000368476	D	0.88509	-2.39	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97398	0.9994	10	0.87932	D	0	.	12.6654	0.56840	0.0:0.0:0.0:1.0	.	340	P17787	ACHB2_HUMAN	P	340	ENSP00000357461:L340P	ENSP00000357461:L340P	L	+	2	0	CHRNB2	152810942	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	7.771000	0.85420	1.645000	0.50612	0.260000	0.18958	CTG			0.677	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090697.1		NM_000748		C	154544318	T	C	154544318	3	2	70	1	0	0	0	0	1	0	0	0	3393	1580	55	4	1037	4	CHRNB2	1	154544318	Missense_Mutation	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10	67585194	154544318	94706303	7	4990											
CD1E	913	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	158324199	158324199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaatcctatcatctagcaGcagaggagcagctgtccttc	11	10	8	12	0	2	1	1	0	1	1	5	2	4	2	2	1	5	4	2	1	4	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:158324199G>T	ENST00000368167.3	+	2	330	c.91G>T	c.(91-93)Gca>Tca	p.A31S	CD1E_ENST00000368165.3_Missense_Mutation_p.A31S|CD1E_ENST00000368156.1_Missense_Mutation_p.A31S|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.A31S|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.A31S|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.A29S|CD1E_ENST00000368161.3_Missense_Mutation_p.A31S|CD1E_ENST00000368155.3_Missense_Mutation_p.A31S|CD1E_ENST00000368164.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	31					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.A31S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCATCTAGCAGCAGAGGAGCA	0.527																																					p.A31S													CD1E,NS,carcinoma,0,1	CD1E	0	1	1	Substitution - Missense(1)	lung(1)	c.G91T												137	140	139					1																	158324199		2132	4265	6397	SO:0001583	missense	913	exon2			CTAGCAGCAGAGG	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.91G>T	1.37:g.158324199G>T	ENSP00000357149:p.Ala31Ser		119	0	0		164	0.06	10	NM_001185107	0		0	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	9.976	1.226841	0.22542	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.17213	2.29;2.29;3.5;2.29;2.29;2.29;3.7;3.62	3.57	0.504	0.16946	.	0.621077	0.13387	N	0.391694	T	0.02571	0.0078	N	0.17764	0.52	0.09310	N	1	B;B;B;B;B;B;B;B	0.33318	0.021;0.194;0.408;0.03;0.007;0.075;0.194;0.022	B;B;B;B;B;B;B;B	0.26416	0.013;0.056;0.056;0.02;0.005;0.069;0.056;0.054	T	0.40739	-0.9547	10	0.40728	T	0.16	-0.6013	5.5885	0.17287	0.3799:0.0:0.6201:0.0	.	29;31;31;31;31;31;31;31	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	S	29;31;31;31;31;31;31;31	ENSP00000401957:A29S;ENSP00000357149:A31S;ENSP00000357147:A31S;ENSP00000357145:A31S;ENSP00000357142:A31S;ENSP00000357143:A31S;ENSP00000357138:A31S;ENSP00000357137:A31S	ENSP00000357137:A31S	A	+	1	0	CD1E	156590823	.	.	0.003000	0.11579	0.149000	0.21700	.	.	0.110000	0.17919	0.563000	0.77884	GCA			0.527	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000046353.3		NM_030893		T	158324199	G	T	158324199	3	4	70	1	0	0	0	0	1	0	0	0	2980	971	34	2	97	2	CD1E	1	158324199	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	3779881	158324199	90926422	8	4991											
SPTA1	6708	hgsc.bcm.edu	37	chr1	158622412	158622412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaatagacgacgtctgcGttcttctgcccgatccaaga	9	11	9	12	4	3	2	0	0	3	2	4	4	4	2	2	0	3	2	2	0	3	4	rs569406964		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:158622412G>T	ENST00000368147.4	-	23	3400	c.3220C>A	c.(3220-3222)Cgc>Agc	p.R1074S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1074					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)					CGACGTCTGCGTTCTTCTGCC	0.438																																					p.R1074S													SPTA1,NS,carcinoma,+1,3	SPTA1	1	3	0			c.C3220A												102	94	96					1																	158622412		1881	4112	5993	SO:0001583	missense	6708	exon23			GTCTGCGTTCTTC	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.3220C>A	1.37:g.158622412G>T	ENSP00000357129:p.Arg1074Ser		100	0	0		110	0.05	5	NM_003126	0		0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863875	0.51482	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.76186	-1.0;-1.0	5.3	5.3	0.74995	.	0.000000	0.32703	N	0.005753	D	0.82467	0.5043	M	0.66939	2.045	0.53688	D	0.999972	D	0.71674	0.998	D	0.69142	0.962	D	0.83712	0.0188	10	0.87932	D	0	.	17.7085	0.88315	0.0:0.0:1.0:0.0	.	1074	P02549	SPTA1_HUMAN	S	1074	ENSP00000357130:R1074S;ENSP00000357129:R1074S	ENSP00000357129:R1074S	R	-	1	0	SPTA1	156889036	0.998000	0.40836	0.973000	0.42090	0.074000	0.17049	2.801000	0.47908	2.769000	0.95229	0.655000	0.94253	CGC			0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051851.3		NM_003126		T	158622412	G	T	158622412	3	4	70	1	0	0	0	0	1	0	0	0	15139	1145	40	1	4159	1	SPTA1	1	158622412	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	298213	158622412	90628209	9	4992											
ITLN1	55600	ucsc.edu	37	chr1	160851880	160851880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaccgtgcacttcccaCgcatgtcattctcgtgcacg	6	9	8	18	5	2	0	1	0	1	0	4	0	3	0	3	0	2	3	3	0	0	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr1:160851880C>T	ENST00000326245.3	-	4	387	c.272G>A	c.(271-273)cGt>cAt	p.R91H	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	91	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCACTTCCCACGCATGTCATT	0.602																																					p.R91H													.	ITLN1	45		0			c.G272A												121	103	110					1																	160851880		2203	4300	6503	SO:0001583	missense	55600	exon4			TTCCCACGCATGT	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.272G>A	1.37:g.160851880C>T	ENSP00000323587:p.Arg91His		127	0	0		176	0.01	1	NM_017625	33	0.7	23	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.550664	0.00140	.	.	ENSG00000179914	ENST00000326245	D	0.93189	-3.18	4.17	-8.34	0.00988	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	2.476460	0.02207	N	0.062839	T	0.56601	0.1996	N	0.10733	0.035	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55341	-0.8156	10	0.15499	T	0.54	6.098	2.7539	0.05288	0.159:0.2493:0.1115:0.4803	.	91	Q8WWA0	ITLN1_HUMAN	H	91	ENSP00000323587:R91H	ENSP00000323587:R91H	R	-	2	0	ITLN1	159118504	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.756000	0.01813	-5.849000	0.00009	-3.525000	0.00032	CGT			0.602	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071462.1		NM_017625		T	160851880	C	T	160851880	3	4	70	1	0	0	0	0	1	0	0	0	7925	536	19	1	689	1	ITLN1	1	160851880	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	2229468	160851880	88398741	10	4993											
GPD2	2820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	157435487	157435487	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaacagatcgctctgaaatTagcctactgccttcagacat	12	12	6	11	1	2	3	1	1	1	2	3	3	2	3	2	0	4	1	2	0	4	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr2:157435487T>C	ENST00000310454.6	+	14	2226	c.1854T>C	c.(1852-1854)atT>atC	p.I618I	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Silent_p.I391I|GPD2_ENST00000438166.2_Silent_p.I618I|GPD2_ENST00000409674.1_Silent_p.I618I	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	618					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						GCTCTGAAATTAGCCTACTGC	0.328																																					p.I618I													.	.			0			c.T1854C												121	122	122					2																	157435487		2203	4299	6502	SO:0001819	synonymous_variant	2820	exon14			TGAAATTAGCCTA		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.1854T>C	2.37:g.157435487T>C			77	0	0		52	0.12	6	NM_001083112	15	0.27	4	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	CCDS2202.1																																																																																					0.328	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254910.3				C	157435487	T	C	157435487	2	2	70	1	0	0	0	0	0	0	0	1	6620	1742	61	4		4	GPD2	2	157435487	Silent	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10		157435487	85763886	11	4994											
TTN	7273	broad.mit.edu	37	chr2	179449465	179449465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaatcggttttcagcacGgacccggaagatgtactcct	10	9	10	12	3	1	1	1	0	0	1	3	3	2	3	3	3	2	3	3	3	3	3	rs201614524		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr2:179449465G>T	ENST00000591111.1	-	260	60204	c.59980C>A	c.(59980-59982)Cgt>Agt	p.R19994S	TTN_ENST00000342175.6_Missense_Mutation_p.R12762S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21635S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12695S|TTN_ENST00000460472.2_Missense_Mutation_p.R12570S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19067S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19994	Fibronectin type-III 44. {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)			TTTTCAGCACGGACCCGGAAG	0.488																																					p.R21635S													TTN_ENST00000359218,NS,carcinoma,+1,9	TTN	18412	9	0			c.C64903A												179	178	178					2																	179449465		1918	4120	6038	SO:0001583	missense	7273	exon310			CAGCACGGACCCG	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.59980C>A	2.37:g.179449465G>T	ENSP00000465570:p.Arg19994Ser		178	0	0		144	0.02	3	NM_001267550	0		0	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		.	.	.	.	.	.	.	.	.	.	G	23.2	4.385386	0.82792	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63988	0.2558	N	0.25031	0.7	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	0.65780	-0.6085	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	12570;12695;12762;19994	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	19067;12570;12762;12695;12568	ENSP00000343764:R19067S;ENSP00000434586:R12570S;ENSP00000340554:R12762S;ENSP00000352154:R12695S	ENSP00000340554:R12762S	R	-	1	0	TTN	179157711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	CGT			0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		T	179449465	G	T	179449465	3	4	70	1	0	0	0	0	1	0	0	0	16759	1116	39	1	43288	1	TTN	2	179449465	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	22013978	179449465	63749908	12	4995											
ABCA12	26154	mdanderson.org	37	chr2	215910734	215910734	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattgttggggtcactGgatagcttaaaatataaaac	13	14	9	5	0	2	1	1	1	1	0	2	2	2	2	0	3	2	2	0	3	6	7	rs529282465		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr2:215910734G>T	ENST00000272895.7	-	7	918	c.699C>A	c.(697-699)tcC>tcA	p.S233S		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	233					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)		TGGGGTCACTGGATAGCTTAA	0.358																																					p.S233S	Ovarian(66;664 1488 5121 34295)												.	.			0			c.C699A												71	76	74					2																	215910734		2203	4300	6503	SO:0001819	synonymous_variant	26154	exon7			GTCACTGGATAGC	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.699C>A	2.37:g.215910734G>T			57	0	0		45	0.07	3	NM_173076	1	0	0	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																					0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337111.1		NM_173076		T	215910734	G	T	215910734	2	4	70	1	0	0	0	0	0	0	0	1	30	1335	47	3		3	ABCA12	2	215910734	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	36461269	215910734	27288639	13	4996											
UBE2F	140739	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	238881845	238881846	+	Frame_Shift_Del	DEL	GA	GA	-																															tcgactcggagggtttctgtGagagacaaattgcttgttaa																										TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	GA	GA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr2:238881845_238881846delGA	ENST00000272930.4	+	2	290_291	c.96_97delGA	c.(94-99)gtgagafs	p.R33fs	UBE2F-SCLY_ENST00000449191.1_Frame_Shift_Del_p.R33fs|UBE2F_ENST00000409332.1_Frame_Shift_Del_p.R33fs|UBE2F_ENST00000414443.1_Frame_Shift_Del_p.R33fs|UBE2F_ENST00000409953.1_Intron|UBE2F_ENST00000409633.1_Frame_Shift_Del_p.R33fs	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	33					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)		GGGTTTCTGTGAGAGACAAATT	0.45																																					p.32_32del													.	UBE2F	11		0			c.95_96del																																									SO:0001589	frameshift_variant	140739	exon2			TTCTGTGAGAGAC	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.96_97delGA	2.37:g.238881849_238881850delGA	ENSP00000272930:p.Arg33fs		51	0	0		35	0.4	14	NM_080678	72	0	0	A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Frame_Shift_Del	DEL	ENST00000272930.4	37	CCDS2523.1																																																																																					0.45	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257171.2		NM_080678		-	238881846	GA	-	238881845	7	5	70	1	0	1	0	1	0	0	0	0	16879	1277	45	0	98	0	UBE2F	2	238881845	Frame_Shift_Del	DEL	GA	TCGA-2G-AALR-01A-21D-A42Y-10	22971111	238881845	4317528	14	4997											
ZNF502	91392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	44762585	44762585	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataactttcatccacaaagaAgcaccccctgaaattattag	16	10	4	11	0	1	2	1	1	0	1	2	2	2	2	3	0	2	1	3	0	6	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr3:44762585A>G	ENST00000296091.4	+	4	532	c.276A>G	c.(274-276)gaA>gaG	p.E92E	ZNF502_ENST00000436624.2_Silent_p.E92E|ZNF502_ENST00000449836.1_Silent_p.E92E	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	92					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)		TCCACAAAGAAGCACCCCCTG	0.423																																					p.E92E													.	.			0			c.A276G												61	63	62					3																	44762585		2203	4300	6503	SO:0001819	synonymous_variant	91392	exon4			CAAAGAAGCACCC	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.276A>G	3.37:g.44762585A>G			116	0	0		106	0.1	11	NM_001134440	8	0.63	5		Silent	SNP	ENST00000296091.4	37	CCDS2719.1																																																																																					0.423	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256744.4		NM_033210		G	44762585	A	G	44762585	2	3	70	1	0	0	0	0	0	0	0	1	17973	69	3	4		4	ZNF502	3	44762585	Silent	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10		44762585	153259845	15	4998											
HOPX	84525	mdanderson.org	37	chr4	57516927	57516927	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggggtagccttctctttGggggctactttctgggtgcc	3	14	15	9	0	2	0	0	0	2	0	3	0	2	0	2	5	3	2	2	5	2	5			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr4:57516927G>T	ENST00000337881.7	-	3	801				HOPX_ENST00000381260.3_Missense_Mutation_p.Q66K|HOPX_ENST00000553379.2_Intron|HOPX_ENST00000420433.1_Intron|HOPX_ENST00000381255.3_Intron|HOPX_ENST00000317745.7_Intron|HOPX_ENST00000555760.2_Intron|HOPX_ENST00000508121.1_Intron|HOPX_ENST00000556376.2_Intron|HOPX_ENST00000503639.3_Intron|HOPX_ENST00000554144.1_Missense_Mutation_p.Q84K|HOPX_ENST00000556614.2_Intron	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox						heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					CCTTCTCTTTGGGGGCTACTT	0.458																																					p.Q84K													.	.			0			c.C250A												64	62	63					4																	57516927		692	1591	2283	SO:0001627	intron_variant	84525	exon4			CTCTTTGGGGGCT		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"Homeoboxes / PRD class"	24961	protein-coding gene	gene with protein product	"homeobox only domain"	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.145-1964C>A	4.37:g.57516927G>T			65	0	0		51	0.08	4	NM_001145460	0		0	A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	ENST00000337881.7	37	CCDS3507.1	.	.	.	.	.	.	.	.	.	.	G	4.183	0.032505	0.08101	.	.	ENSG00000171476	ENST00000554144;ENST00000381260;ENST00000503864;ENST00000509435	.	.	.	2.99	2.99	0.34606	.	1.920750	0.02839	N	0.127758	T	0.20088	0.0483	N	0.16478	0.41	0.09310	N	1	P	0.46512	0.879	B	0.36092	0.217	T	0.21861	-1.0233	9	0.33940	T	0.23	-2.8182	9.6901	0.40123	0.0:0.0:1.0:0.0	.	84	G3V294	.	K	84;66;66;66	.	ENSP00000370659:Q84K	Q	-	1	0	HOPX	57211684	0.001000	0.12720	0.074000	0.20217	0.018000	0.09664	0.696000	0.25541	1.999000	0.58509	0.557000	0.71058	CAA			0.458	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250689.4				T	57516927	G	T	57516927	1	4	70	0	1	0	0	0	0	0	0	0	7300	1357	47	3		3	HOPX	4	57516927	Intron	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		57516927	133637349	16	4999											
ADH1B	125	broad.mit.edu	37	chr4	100235056	100235056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttagcacttcctgaatGggtttcttgtagtcttgagg	6	17	10	8	0	2	2	0	2	2	0	4	2	4	2	2	2	1	3	2	2	3	7			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr4:100235056G>A	ENST00000305046.8	-	6	817	c.750C>T	c.(748-750)ccC>ccT	p.P250P	ADH1B_ENST00000394887.3_Silent_p.P210P			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	250					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)	CTTCCTGAATGGGTTTCTTGT	0.468																																					p.P250P													.	ADH1B	68		0			c.C750T												203	204	204					4																	100235056		2203	4290	6493	SO:0001819	synonymous_variant	125	exon6			CTGAATGGGTTTC	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.750C>T	4.37:g.100235056G>A			253	0	0		199	0.09	17	NM_000668	8	0.25	2	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																					0.468	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364853.1		NM_000668		A	100235056	G	A	100235056	2	1	70	1	0	0	0	0	0	0	0	1	308	1335	47	3		3	ADH1B	4	100235056	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	42718129	100235056	90919220	17	5000											
CTNND2	1501	mdanderson.org	37	chr5	11346670	11346670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggaaggtggccgcggcgGcattctgtgggccgtgctgg	3	9	19	10	4	2	0	0	0	2	0	2	1	2	1	2	7	1	2	2	7	1	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr5:11346670G>A	ENST00000304623.8	-	9	1631	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	CTNND2_ENST00000458100.2_Missense_Mutation_p.A48V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A144V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A481V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A390V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	481					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						GGCCGCGGCGGCATTCTGTGG	0.617																																					p.A481V													.	.			0			c.C1442T												42	46	45					5																	11346670		2203	4299	6502	SO:0001583	missense	1501	exon9			GCGGCGGCATTCT	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.1442C>T	5.37:g.11346670G>A	ENSP00000307134:p.Ala481Val		39	0	0		29	0.1	3	NM_001332	9	0	0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316068	0.60524	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77229	-0.95;-1.02;-0.95;-1.08;-1.06	5.8	5.8	0.92144	.	0.353249	0.25096	N	0.033170	T	0.69351	0.3101	L	0.29908	0.895	0.32782	N	0.502308	B;B;B	0.32620	0.378;0.171;0.012	B;B;B	0.26864	0.074;0.074;0.015	T	0.73652	-0.3915	10	0.44086	T	0.13	-7.7885	20.1139	0.97919	0.0:0.0:1.0:0.0	.	144;48;481	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	481;481;390;48;144	ENSP00000307134:A481V;ENSP00000352661:A481V;ENSP00000426510:A390V;ENSP00000391155:A48V;ENSP00000426887:A144V	ENSP00000307134:A481V	A	-	2	0	CTNND2	11399670	1.000000	0.71417	0.136000	0.22124	0.896000	0.52359	7.598000	0.82745	2.763000	0.94921	0.585000	0.79938	GCC			0.617	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206999.1		NM_001332		A	11346670	G	A	11346670	3	1	70	1	0	0	0	0	1	0	0	0	4022	1203	42	2	2291	2	CTNND2	5	11346670	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		11346670	169568590	18	5001											
DAB2	1601	broad.mit.edu	37	chr5	39390003	39390003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattatagataacttgaaaaAggtctttaagatcaacaact	18	12	5	6	0	2	3	1	1	1	2	2	3	2	3	0	1	3	0	0	1	8	6			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr5:39390003A>G	ENST00000320816.6	-	6	961	c.494T>C	c.(493-495)cTt>cCt	p.L165P	DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Missense_Mutation_p.L165P|DAB2_ENST00000339788.6_Missense_Mutation_p.L165P|DAB2_ENST00000545653.1_Missense_Mutation_p.L165P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	165	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AACTTGAAAAAGGTCTTTAAG	0.323																																					p.L165P													.	DAB2	124		0			c.T494C												38	40	39					5																	39390003		2203	4299	6502	SO:0001583	missense	1601	exon6			TGAAAAAGGTCTT	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.494T>C	5.37:g.39390003A>G	ENSP00000313391:p.Leu165Pro		522	0	0		414	0.02	7	NM_001343	27	0	0	A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571431	0.86542	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.94	5.94	0.96194	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	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	T	0.50701	-0.8797	10	0.87932	D	0	-19.2721	16.4075	0.83691	1.0:0.0:0.0:0.0	.	165;165	P98082;P98082-3	DAB2_HUMAN;.	P	165	ENSP00000313391:L165P;ENSP00000345508:L165P;ENSP00000439919:L165P;ENSP00000426245:L165P	ENSP00000313391:L165P	L	-	2	0	DAB2	39425760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.012000	0.88631	2.275000	0.75901	0.528000	0.53228	CTT			0.323	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367014.1		NM_001343		G	39390003	A	G	39390003	3	3	70	1	0	0	0	0	1	0	0	0	4220	72	3	4	1854	4	DAB2	5	39390003	Missense_Mutation	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10	28043333	39390003	141525257	19	5002											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	90016770	90016770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agagccacctccatagacatCgaagaagccaataggaccgt	15	5	9	12	2	0	3	0	0	0	3	2	5	1	4	5	1	2	0	5	1	5	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr5:90016770C>G	ENST00000405460.2	+	45	9738	c.9642C>G	c.(9640-9642)atC>atG	p.I3214M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3214					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)		CCATAGACATCGAAGAAGCCA	0.378																																					p.I3214M													.	.			0			c.C9642G												167	167	167					5																	90016770		1896	4129	6025	SO:0001583	missense	84059	exon45			AGACATCGAAGAA	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.9642C>G	5.37:g.90016770C>G	ENSP00000384582:p.Ile3214Met		119	0	0		78	0.49	38	NM_032119	1	1	1	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.858143|2.858143	0.51376|0.51376	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.29397|.	1.57|.	5.76|5.76	-10.7|-10.7	0.00240|0.00240	.|.	0.423578|.	0.27275|.	N|.	0.020112|.	T|T	0.33818|0.33818	0.0876|0.0876	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;P|.	0.56746|.	0.977;0.938|.	P;P|.	0.52189|.	0.692;0.612|.	T|T	0.44982|0.44982	-0.9292|-0.9292	10|5	0.37606|.	T|.	0.19|.	.|.	4.2039|4.2039	0.10480|0.10480	0.0805:0.1072:0.1625:0.6498|0.0805:0.1072:0.1625:0.6498	.|.	3214;3214|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	M|W	3214|780	ENSP00000384582:I3214M|.	ENSP00000296619:I3214M|.	I|S	+|+	3|2	3|0	GPR98|GPR98	90052526|90052526	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.027000|0.027000	0.11550|0.11550	-0.940000|-0.940000	0.03929|0.03929	-1.334000|-1.334000	0.02244|0.02244	-0.808000|-0.808000	0.03180|0.03180	ATC|TCG			0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369993.2		NM_032119		G	90016770	C	G	90016770	3	3	70	1	0	0	0	0	1	0	0	0	6736	874	31	5	9820	5	GPR98	5	90016770	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	50626767	90016770	90898490	20	5003											
APC	324	hgsc.bcm.edu;broad.mit.edu	37	chr5	112179374	112179374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaggcaaatccaaacattAaagattcaaaagataatcag	23	7	5	6	0	2	2	2	0	0	2	3	2	3	2	1	1	1	1	1	1	9	3			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr5:112179374A>G	ENST00000457016.1	+	16	8463	c.8083A>G	c.(8083-8085)Aaa>Gaa	p.K2695E	APC_ENST00000508376.2_Missense_Mutation_p.K2695E|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.K2695E			P25054	APC_HUMAN	adenomatous polyposis coli	2695	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCCAAACATTAAAGATTCAAA	0.428		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)																											p.K2695E	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	.	.			1	Unknown(1)	skin(1)	c.A8083G												87	90	89					5																	112179374		2202	4299	6501	SO:0001583	missense	324	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	AACATTAAAGATT	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.8083A>G	5.37:g.112179374A>G	ENSP00000413133:p.Lys2695Glu		100	0	0		98	0.04	4	NM_001127510	42	0.1	4	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	8.700	0.909596	0.17833	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.76448	-1.02;-1.02;-1.02	5.99	5.99	0.97316	EB-1 binding (1);	0.285219	0.42548	D	0.000691	T	0.60483	0.2272	N	0.14661	0.345	0.36462	D	0.866738	B;B	0.18166	0.026;0.005	B;B	0.18561	0.022;0.016	T	0.61481	-0.7054	9	.	.	.	-28.0182	10.7713	0.46325	0.9298:0.0:0.0701:0.0	.	2697;2695	Q4LE70;P25054	.;APC_HUMAN	E	2695	ENSP00000413133:K2695E;ENSP00000257430:K2695E;ENSP00000427089:K2695E	.	K	+	1	0	APC	112207273	0.996000	0.38824	0.936000	0.37596	0.978000	0.69477	3.278000	0.51662	2.291000	0.77112	0.533000	0.62120	AAA			0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250738.2		NM_000038		G	112179374	A	G	112179374	3	3	70	1	0	0	0	0	1	0	0	0	763	363	13	4	8141	4	APC	5	112179374	Missense_Mutation	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10	22162604	112179374	68735886	21	5004											
ZNF300	91975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	150276491	150276491	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgatggaaggaaactgTccccaaaatacatgactggg	14	9	10	8	0	0	2	0	2	0	0	1	4	1	4	2	3	2	0	2	3	6	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr5:150276491T>A	ENST00000274599.5	-	6	730	c.310A>T	c.(310-312)Aca>Tca	p.T104S	ZNF300_ENST00000394226.2_Missense_Mutation_p.T104S|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.T68S|ZNF300_ENST00000446148.2_Missense_Mutation_p.T120S	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	104					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)			AAGGAAACTGTCCCCAAAATA	0.393																																					p.T120S													.	.			0			c.A358T												57	55	56					5																	150276491		2203	4299	6502	SO:0001583	missense	91975	exon7			AAACTGTCCCCAA	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.310A>T	5.37:g.150276491T>A	ENSP00000274599:p.Thr104Ser		108	0	0		105	0.38	40	NM_001172831	14	0.43	6	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	T	0.066	-1.211720	0.01555	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07567	3.27;3.28;3.18;3.27	2.58	-1.5	0.08691	.	.	.	.	.	T	0.02727	0.0082	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46414	-0.9193	9	0.18710	T	0.47	.	3.3209	0.07049	0.4264:0.1316:0.0:0.4421	.	104	Q96RE9	ZN300_HUMAN	S	120;104;68;104	ENSP00000397178:T120S;ENSP00000274599:T104S;ENSP00000392593:T68S;ENSP00000377773:T104S	ENSP00000274599:T104S	T	-	1	0	ZNF300	150256684	0.000000	0.05858	0.029000	0.17559	0.031000	0.12232	-0.025000	0.12413	-0.306000	0.08818	-0.475000	0.04921	ACA			0.393	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				NM_052860		A	150276491	T	A	150276491	3	1	70	1	0	0	0	0	1	0	0	0	17854	1667	58	5	1508	5	ZNF300	5	150276491	Missense_Mutation	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10	38097117	150276491	30638769	22	5005											
GABRP	2568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	170235654	170235654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttcggaggaatgttctgTatttcattttggaaacctac	10	15	9	7	1	2	0	1	0	1	0	3	3	2	3	1	3	3	3	1	3	4	7			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr5:170235654T>C	ENST00000518525.1	+	9	1194	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	GABRP_ENST00000265294.4_Missense_Mutation_p.Y244H|GABRP_ENST00000519598.1_Missense_Mutation_p.Y244H|GABRP_ENST00000519385.1_Missense_Mutation_p.Y244H			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	244					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	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(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	GAATGTTCTGTATTTCATTTT	0.423																																					p.Y244H													.	.			0			c.T730C												243	215	225					5																	170235654		2203	4300	6503	SO:0001583	missense	2568	exon8			GTTCTGTATTTCA	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.730T>C	5.37:g.170235654T>C	ENSP00000430100:p.Tyr244His		136	0	0		123	0.36	44	NM_014211	0		0	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455204	0.84209	.	.	ENSG00000094755	ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	4.94	4.94	0.65067	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.107470	0.64402	D	0.000004	D	0.92731	0.7689	M	0.75884	2.315	0.53005	D	0.999961	D;D	0.89917	0.999;1.0	P;D	0.76071	0.897;0.987	D	0.93652	0.6974	10	0.87932	D	0	.	14.5722	0.68218	0.0:0.0:0.0:1.0	.	244;244	E7EWG0;O00591	.;GBRP_HUMAN	H	244;142;244;244;244	ENSP00000430100:Y244H;ENSP00000265294:Y244H;ENSP00000430727:Y244H;ENSP00000430772:Y244H	ENSP00000265294:Y244H	Y	+	1	0	GABRP	170168232	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.987000	0.88182	1.970000	0.57323	0.533000	0.62120	TAT			0.423	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252834.3		NM_014211		C	170235654	T	C	170235654	3	2	70	1	0	0	0	0	1	0	0	0	6187	1638	57	4	756	4	GABRP	5	170235654	Missense_Mutation	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10	19959163	170235654	10679606	23	5006											
CLTB	1212	mdanderson.org	37	chr5	175823488	175823488	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacacgtacacgtagccGatgatatcagcatctggctg	12	8	10	11	3	2	2	1	1	1	1	2	3	2	2	1	1	3	4	1	1	3	3			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr5:175823488G>T	ENST00000310418.4	-	5	715	c.510C>A	c.(508-510)atC>atA	p.I170I	CLTB_ENST00000345807.2_Intron	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	170					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.098)		ACACGTAGCCGATGATATCAG	0.507																																					p.I170I													CLTB,NS,carcinoma,0,1	CLTB	0	1	0			c.C510A												181	144	156					5																	175823488		2203	4300	6503	SO:0001819	synonymous_variant	1212	exon5			GTAGCCGATGATA	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.510C>A	5.37:g.175823488G>T			39	0	0		38	0.08	3	NM_007097	11	0	0	Q53Y37|Q6FHW1	Silent	SNP	ENST00000310418.4	37	CCDS4403.1																																																																																					0.507	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253153.1				T	175823488	G	T	175823488	2	4	70	1	0	0	0	0	0	0	0	1	3567	1048	37	1		1	CLTB	5	175823488	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	5587834	175823488	5091772	24	5007											
MGAT4B	11282	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	179228562	179228562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcccatacctccggtgCggccctggcccacgcgcacc	4	5	11	21	5	0	0	0	0	0	0	1	0	1	0	6	3	3	1	6	3	1	1	rs372861672		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr5:179228562C>T	ENST00000292591.7	-	3	766	c.416G>A	c.(415-417)cGc>cAc	p.R139H	MGAT4B_ENST00000337755.5_Missense_Mutation_p.R154H|MGAT4B_ENST00000521305.1_5'UTR	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	139					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTCCGGTGCGGCCCTGGCC	0.721																																					p.R154H	GBM(13;414 434 4098 22176 23230)												.	MGAT4B	41		0			c.G461A												18	18	18					5																	179228562		2193	4287	6480	SO:0001583	missense	11282	exon2			CCGGTGCGGCCCT	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7048	protein-coding gene	gene with protein product		604561	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.416G>A	5.37:g.179228562C>T	ENSP00000292591:p.Arg139His		50	0	0		37	0.11	4	NM_054013	174	0	0	A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.360460|5.360460	0.95877|0.95877	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000519836|ENST00000337755;ENST00000292591	.|T;T	.|0.51325	.|0.71;0.71	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73737|0.73737	0.3625|0.3625	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;P	.|0.66847	.|0.947;0.883	T|T	0.80219|0.80219	-0.1473|-0.1473	5|10	.|0.87932	.|D	.|0	-24.3015|-24.3015	18.5104|18.5104	0.90914|0.90914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|139;154	.|Q9UQ53;A8MPR0	.|MGT4B_HUMAN;.	T|H	87|154;139	.|ENSP00000338487:R154H;ENSP00000292591:R139H	.|ENSP00000292591:R139H	A|R	-|-	1|2	0|0	MGAT4B|MGAT4B	179161168|179161168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	7.368000|7.368000	0.79567|0.79567	2.373000|2.373000	0.80994|0.80994	0.471000|0.471000	0.43371|0.43371	GCA|CGC			0.721	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253503.3		NM_014275		T	179228562	C	T	179228562	3	4	70	1	0	0	0	0	1	0	0	0	9562	768	27	1	1282	1	MGAT4B	5	179228562	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	3405074	179228562	1686698	25	5008											
HFE	3077	broad.mit.edu	37	chr6	26091799	26091799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttgctggagctggggagaGgtgttttggaccaacaaggt	9	10	17	5	0	0	1	0	0	0	1	0	4	0	3	1	6	3	4	1	6	2	3			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr6:26091799G>C	ENST00000357618.5	+	3	720	c.598G>C	c.(598-600)Ggt>Cgt	p.G200R	HFE_ENST00000309234.6_Missense_Mutation_p.G200R|HFE_ENST00000488199.1_Missense_Mutation_p.G112R|HFE_ENST00000470149.1_Missense_Mutation_p.G200R|HFE_ENST00000353147.5_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.G177R|HFE_ENST00000461397.1_Missense_Mutation_p.G200R|HFE_ENST00000317896.7_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000336625.8_Intron|HFE_ENST00000349999.4_Missense_Mutation_p.G112R	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	200	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGGGGAGAGGTGTTTTGGA	0.582									Hemochromatosis																												p.G200R													.	HFE	37		0			c.G598C												38	37	37					6																	26091799		2203	4300	6503	SO:0001583	missense	3077	exon3	Familial Cancer Database		GGGAGAGGTGTTT		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.598G>C	6.37:g.26091799G>C	ENSP00000417404:p.Gly200Arg		336	0.0029761905	1		298	0.02	6	NM_139006	7	0	0	B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361094	0.41801	.	.	ENSG00000010704	ENST00000349999;ENST00000397022;ENST00000539147;ENST00000357618;ENST00000470149;ENST00000461397;ENST00000488199;ENST00000309234	T;D;D;D;D;T;D	0.89415	3.27;-2.51;-2.51;-2.51;-2.51;3.27;-2.51	5.13	3.3	0.37823	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.495281	0.18652	N	0.134966	D	0.86339	0.5909	L	0.41415	1.275	0.09310	N	1	D;B;D;D;D;D	0.89917	1.0;0.044;0.999;0.999;0.996;1.0	D;B;D;D;P;D	0.77004	0.989;0.026;0.973;0.973;0.907;0.984	T	0.78851	-0.2041	10	0.87932	D	0	.	8.3828	0.32481	0.0865:0.1569:0.7567:0.0	.	200;112;200;112;177;200	Q6B0J5;Q30201-4;Q30201-3;Q30201-2;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	R	112;177;95;200;200;200;112;200	ENSP00000259699:G112R;ENSP00000380217:G177R;ENSP00000417404:G200R;ENSP00000419725:G200R;ENSP00000420802:G200R;ENSP00000420559:G112R;ENSP00000311698:G200R	ENSP00000311698:G200R	G	+	1	0	HFE	26199778	0.221000	0.23642	0.050000	0.19076	0.723000	0.41478	2.712000	0.47186	0.707000	0.31934	0.655000	0.94253	GGT			0.582	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000356133.1				C	26091799	G	C	26091799	3	2	70	1	0	0	0	0	1	0	0	0	7096	1000	35	5	608	5	HFE	6	26091799	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		26091799	145023268	26	5009											
MUC21	394263	hgsc.bcm.edu	37	chr6	30954870	30954870	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaccaactctgagtccagTacgacctccagtggggccaa	10	6	10	15	1	1	1	0	1	1	0	3	2	3	1	6	2	2	1	6	2	3	1	rs9262377		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr6:30954870T>C	ENST00000376296.3	+	2	1159	c.918T>C	c.(916-918)agT>agC	p.S306S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	306	28 X 15 AA approximate tandem repeats.|Ser-rich.				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						CTGAGTCCAGTACGACCTCCA	0.597																																					p.S306S													MUC21,rectum,carcinoma,0,1	MUC21	0	1	0			c.T918C												171	164	167					6																	30954870		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			GTCCAGTACGACC	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.918T>C	6.37:g.30954870T>C			40	0.025	1		47	0.04	2	NM_001010909	0		0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																					0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909		C	30954870	T	C	30954870	2	2	70	1	0	0	0	0	0	0	0	1	9993	1635	57	4		4	MUC21	6	30954870	Silent	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10	4863071	30954870	140160197	27	5010											
C6orf150	115004	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	74135079	74135079	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaataaaataattctcAagtttttctgtcctgaggca	13	14	7	7	0	3	1	2	1	2	0	5	2	4	2	1	2	0	2	1	2	5	5			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr6:74135079A>C	ENST00000370315.3	-	5	1534	c.1440T>G	c.(1438-1440)ctT>ctG	p.L480L	MB21D1_ENST00000370318.1_Intron	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	480					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						AATAATTCTCAAGTTTTTCTG	0.388																																					p.L480L													.	MB21D1	33		0			c.T1440G												58	58	58					6																	74135079		2203	4300	6503	SO:0001819	synonymous_variant	115004	exon5			ATTCTCAAGTTTT	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.1440T>G	6.37:g.74135079A>C			99	0.0101010101	1		81	0.07	6	NM_138441	1	0	0	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	CCDS4978.1																																																																																					0.388	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041221.5		NM_138441		C	74135079	A	C	74135079	2	2	70	1	0	0	0	0	0	0	0	1	2339	117	5	4		4	C6orf150	6	74135079	Silent	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10	43180209	74135079	96979988	28	5011											
LAMA2	3908	mdanderson.org	37	chr6	129637314	129637314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatttcatgcgacaaagCaggtaaactctaatagaaaa	19	8	8	6	1	2	1	1	0	1	1	2	3	2	2	0	2	3	2	0	2	8	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr6:129637314C>T	ENST00000421865.2	+	27	4105	c.4056C>T	c.(4054-4056)agC>agT	p.S1352S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1352	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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)		TGCGACAAAGCAGGTAAACTC	0.333																																					p.S1352S													.	.			0			c.C4056T												48	54	52					6																	129637314		2202	4299	6501	SO:0001819	synonymous_variant	3908	exon27			ACAAAGCAGGTAA	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.4056C>T	6.37:g.129637314C>T			44	0	0		28	0.11	3	NM_001079823	9	0	0	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																					0.333	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042180.1				T	129637314	C	T	129637314	2	4	70	1	0	0	0	0	0	0	0	1	8621	709	25	2		2	LAMA2	6	129637314	Silent	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	55502235	129637314	41477753	29	5012											
GPR146	115330	mdanderson.org	37	chr7	1097842	1097842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggccggctggagccctcgGcacacaggctgctggtggcc	4	5	17	15	3	0	0	0	0	0	0	1	1	0	1	3	7	2	4	3	7	0	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr7:1097842G>A	ENST00000397095.1	+	2	914	c.691G>A	c.(691-693)Gca>Aca	p.A231T	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|GPR146_ENST00000297468.3_Missense_Mutation_p.A231T|C7orf50_ENST00000397100.2_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000357429.6_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGAGCCCTCGGCACACAGGCT	0.682																																					p.A231T													.	.			0			c.G691A												22	18	20					7																	1097842		2196	4286	6482	SO:0001583	missense	115330	exon1			CCCTCGGCACACA	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.691G>A	7.37:g.1097842G>A	ENSP00000380283:p.Ala231Thr		12	0	0		13	0.15	2	NM_138445	8	0	0	Q86SP5	Missense_Mutation	SNP	ENST00000397095.1	37	CCDS5321.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785825	0.49997	.	.	ENSG00000164849	ENST00000444847;ENST00000397095;ENST00000500070;ENST00000297468	T;T;T	0.38077	1.16;1.16;1.16	4.94	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.318703	0.32868	N	0.005557	T	0.24547	0.0595	N	0.19112	0.55	0.22156	N	0.999324	B	0.18310	0.027	B	0.14578	0.011	T	0.22836	-1.0205	10	0.72032	D	0.01	-9.5182	11.5092	0.50484	0.092:0.0:0.908:0.0	.	231	Q96CH1	GP146_HUMAN	T	231;231;149;231	ENSP00000410743:A231T;ENSP00000380283:A231T;ENSP00000297468:A231T	ENSP00000297468:A231T	A	+	1	0	GPR146	1064368	1.000000	0.71417	0.897000	0.35233	0.861000	0.49209	4.701000	0.61810	1.044000	0.40200	0.561000	0.74099	GCA			0.682	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206855.1		NM_138445		A	1097842	G	A	1097842	3	1	70	1	0	0	0	0	1	0	0	0	6666	1203	42	2	693	2	GPR146	7	1097842	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		1097842	158040821	30	5013											
PHKG1	5260	mdanderson.org	37	chr7	56155460	56155460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcatcgcctgaccacactGctaacgcccctgggagtgca	9	7	10	15	2	0	1	0	1	0	0	1	2	0	2	4	1	4	3	4	1	1	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr7:56155460G>A	ENST00000297373.2	-	3	287	c.93C>T	c.(91-93)agC>agT	p.S31S	PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000452681.2_Silent_p.S31S|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGACCACACTGCTAACGCCCC	0.652																																					p.S31S	Melanoma(184;580 2064 5329 24177 35303)												.	.			0			c.C93T												49	42	45					7																	56155460		2203	4300	6503	SO:0001819	synonymous_variant	5260	exon3			CACACTGCTAACG	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.93C>T	7.37:g.56155460G>A			26	0	0		25	0.12	3	NM_006213	2	0	0	B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	CCDS5525.1																																																																																					0.652	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251587.1		NM_006213		A	56155460	G	A	56155460	2	1	70	1	0	0	0	0	0	0	0	1	11863	1310	46	2		2	PHKG1	7	56155460	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	55057618	56155460	102983203	31	5014											
TRRAP	8295	mdanderson.org	37	chr7	98553773	98553773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccctgcgtccgcaggtgtActacccggtacggcaccact	6	7	12	16	4	0	0	0	0	0	0	1	0	1	0	4	4	4	4	4	4	3	3			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr7:98553773A>G	ENST00000359863.4	+	41	6130	c.5921A>G	c.(5920-5922)tAc>tGc	p.Y1974C	TRRAP_ENST00000355540.3_Missense_Mutation_p.Y1956C|TRRAP_ENST00000446306.3_Missense_Mutation_p.Y1955C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1974					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)			CCGCAGGTGTACTACCCGGTA	0.652																																					p.Y1974C													.	.			0			c.A5921G												48	41	43					7																	98553773		2203	4300	6503	SO:0001583	missense	8295	exon41			AGGTGTACTACCC	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.5921A>G	7.37:g.98553773A>G	ENSP00000352925:p.Tyr1974Cys		38	0	0		20	0.1	2	NM_001244580	12	0	0	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.464407|4.464407	0.84425|0.84425	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.59502	.|0.26;0.26	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77718|0.77718	0.4172|0.4172	M|M	0.82923|0.82923	2.615|2.615	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.81914	.|0.995;0.985;0.991	T|T	0.81773|0.81773	-0.0779|-0.0779	5|10	.|0.87932	.|D	.|0	.|.	15.4609|15.4609	0.75356|0.75356	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1956;1695;1974	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	A|C	1696|1974;1956;1954	.|ENSP00000352925:Y1974C;ENSP00000347733:Y1956C	.|ENSP00000347733:Y1956C	T|Y	+|+	1|2	0|0	TRRAP|TRRAP	98391709|98391709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	9.287000|9.287000	0.95975|0.95975	2.119000|2.119000	0.64992|0.64992	0.459000|0.459000	0.35465|0.35465	ACT|TAC			0.652	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317978.1		NM_003496		G	98553773	A	G	98553773	3	3	70	1	0	0	0	0	1	0	0	0	16625	391	14	4	6021	4	TRRAP	7	98553773	Missense_Mutation	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10	42398313	98553773	60584890	32	5015											
TEX15	56154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	30700548	30700548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaaggtctgcaaattcagCctgatccaatatctcactaa	13	13	5	10	0	3	1	2	1	2	0	5	1	4	1	2	1	2	1	2	1	5	5			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr8:30700548C>T	ENST00000256246.2	-	1	6060	c.5986G>A	c.(5986-5988)Gct>Act	p.A1996T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1996					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)		GCAAATTCAGCCTGATCCAAT	0.303																																					p.A1996T													.	.			0			c.G5986A												37	39	38					8																	30700548		2201	4293	6494	SO:0001583	missense	56154	exon1			ATTCAGCCTGATC	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.5986G>A	8.37:g.30700548C>T	ENSP00000256246:p.Ala1996Thr		126	0	0		148	0.24	36	NM_031271	2	0	0		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872959	0.72180	.	.	ENSG00000133863	ENST00000256246	T	0.15603	2.41	5.73	5.73	0.89815	.	0.109017	0.40908	D	0.000984	T	0.41143	0.1146	L	0.56769	1.78	0.39552	D	0.968999	D	0.89917	1.0	D	0.77557	0.99	T	0.17440	-1.0369	10	0.87932	D	0	.	18.6784	0.91537	0.0:1.0:0.0:0.0	.	1996	Q9BXT5	TEX15_HUMAN	T	1996	ENSP00000256246:A1996T	ENSP00000256246:A1996T	A	-	1	0	TEX15	30820090	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.425000	0.52771	2.718000	0.92993	0.585000	0.79938	GCT			0.303	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376193.1				T	30700548	C	T	30700548	3	4	70	1	0	0	0	0	1	0	0	0	15802	739	26	2	2399	2	TEX15	8	30700548	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10		30700548	115663474	33	5016											
ZFP41	286128	mdanderson.org	37	chr8	144332576	144332576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagctcctgtctcatccGccatcagaaacgccaccctc	9	8	5	19	2	2	1	2	0	1	1	6	1	4	1	5	0	3	1	5	0	2	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr8:144332576G>A	ENST00000330701.4	+	2	932	c.563G>A	c.(562-564)cGc>cAc	p.R188H	ZFP41_ENST00000522452.1_Missense_Mutation_p.R188H|ZFP41_ENST00000520584.1_Missense_Mutation_p.R188H	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	188					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)			TGTCTCATCCGCCATCAGAAA	0.637																																					p.R188H													.	.			0			c.G563A												62	72	68					8																	144332576		2202	4300	6502	SO:0001583	missense	286128	exon2			TCATCCGCCATCA		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.563G>A	8.37:g.144332576G>A	ENSP00000327427:p.Arg188His		24	0	0		20	0.15	3	NM_173832	30	0	0	D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.605035	0.28623	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.25414	1.8;1.8;1.8	3.38	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23094	0.0558	M	0.74881	2.28	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.31943	-0.9925	9	0.27082	T	0.32	-14.9516	4.7226	0.12926	0.544:0.1773:0.2787:0.0	.	188	Q8N8Y5	ZFP41_HUMAN	H	188	ENSP00000430465:R188H;ENSP00000327427:R188H;ENSP00000428966:R188H	ENSP00000327427:R188H	R	+	2	0	ZFP41	144403951	0.000000	0.05858	0.000000	0.03702	0.716000	0.41182	-1.577000	0.02127	-0.318000	0.08665	0.467000	0.42956	CGC			0.637	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381114.2		NM_173832		A	144332576	G	A	144332576	3	1	70	1	0	0	0	0	1	0	0	0	17672	1087	38	1	565	1	ZFP41	8	144332576	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	113632028	144332576	2031446	34	5017											
TTC39B	158219	mdanderson.org	37	chr9	15192619	15192619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccactgccaagcttgacaCccccttcaaactcatagaag	12	7	5	17	0	2	2	2	1	0	1	2	2	2	2	5	0	3	1	5	0	4	3	rs560744000	byFrequency	TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr9:15192619C>A	ENST00000512701.2	-	9	935	c.899G>T	c.(898-900)gGt>gTt	p.G300V	TTC39B_ENST00000297615.5_Missense_Mutation_p.G231V|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000380850.4_Missense_Mutation_p.G300V|TTC39B_ENST00000507993.1_Missense_Mutation_p.G135V|TTC39B_ENST00000355694.2_Missense_Mutation_p.G234V|TTC39B_ENST00000507285.1_Missense_Mutation_p.G135V			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	300								p.G234V(1)|p.G300V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AAGCTTGACACCCCCTTCAAA	0.408																																					p.G300V													TTC39B_ENST00000512701,NS,carcinoma,0,2	TTC39B_ENST00000512701	0	2	2	Substitution - Missense(2)	lung(2)	c.G899T												95	95	95					9																	15192619		2203	4300	6503	SO:0001583	missense	158219	exon9			TTGACACCCCCTT	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.899G>T	9.37:g.15192619C>A	ENSP00000422496:p.Gly300Val		102	0	0		109	0.05	5	NM_152574	6	0.17	1	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772585	0.90108	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	M	0.88105	2.93	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;0.999;0.999	D	0.85537	0.1213	10	0.66056	D	0.02	-14.6308	19.8379	0.96666	0.0:1.0:0.0:0.0	.	231;300;300;232;234	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	V	300;231;234;300;135;135	ENSP00000370231:G300V;ENSP00000297615:G231V;ENSP00000347920:G234V;ENSP00000422496:G300V;ENSP00000426539:G135V;ENSP00000423392:G135V	ENSP00000297615:G231V	G	-	2	0	TTC39B	15182619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.288000	0.78691	2.765000	0.95021	0.655000	0.94253	GGT			0.408	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051758.3		NM_152574		A	15192619	C	A	15192619	3	1	70	1	0	0	0	0	1	0	0	0	16732	507	18	3	1218	3	TTC39B	9	15192619	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10		15192619	126020812	35	5018											
MLLT3	4300	broad.mit.edu	37	chr9	20414311	20414313	+	In_Frame_Del	DEL	CTG	CTG	-																															tgctgctactgctgctgctaCtgctgctgctgctgctgctg																										TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr9:20414311_20414313delCTG	ENST00000380338.4	-	5	817_819	c.531_533delCAG	c.(529-534)agcagt>agt	p.177_178SS>S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.174_175SS>S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctactgctgctgctgc	0.532			T	MLL	ALL																																p.177_178del				Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	MLLT3,caecum,carcinoma,+1,1	MLLT3	125	1	0			c.531_533del																																									SO:0001651	inframe_deletion	4300	exon5			CTGCTACTGCTGC	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531_533delCAG	9.37:g.20414320_20414322delCTG	ENSP00000369695:p.Ser190del		83	0	0		96	0.07	7	NM_004529	20	0	0	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	In_Frame_Del	DEL	ENST00000380338.4	37	CCDS6494.1																																																																																					0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051872.1		NM_004529		-	20414313	CTG	-	20414311	7	5	70	1	0	1	0	1	0	0	0	0	9644	565	20	0	1201	0	MLLT3	9	20414311	In_Frame_Del	DEL	CTG	TCGA-2G-AALR-01A-21D-A42Y-10	5221692	20414311	120799120	36	5019											
NFX1	4799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	33307242	33307242	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaattccacatagctgtGgtgaggtttgtagaaagaaa	15	11	11	4	0	0	4	0	2	0	2	1	4	1	4	1	2	1	3	1	2	5	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr9:33307242G>C	ENST00000379540.3	+	5	1383	c.1321G>C	c.(1321-1323)Ggt>Cgt	p.G441R	NFX1_ENST00000379521.4_Missense_Mutation_p.G441R|NFX1_ENST00000318524.6_Missense_Mutation_p.G441R	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	441					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)		ACATAGCTGTGGTGAGGTTTG	0.448																																					p.G441R													.	.			0			c.G1321C												165	161	162					9																	33307242		2203	4300	6503	SO:0001583	missense	4799	exon5			AGCTGTGGTGAGG	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.1321G>C	9.37:g.33307242G>C	ENSP00000368856:p.Gly441Arg		93	0	0		76	0.08	6	NM_147134	33	0.15	5	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896086	0.91962	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.55588	0.51;0.51;0.51	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81148	0.4762	H	0.95780	3.72	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;0.997;1.0;0.999	D	0.86675	0.1913	10	0.87932	D	0	-7.1113	16.8219	0.85748	0.0:0.0:1.0:0.0	.	441;325;441;441;441	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	R	441	ENSP00000368856:G441R;ENSP00000368836:G441R;ENSP00000317695:G441R	ENSP00000317695:G441R	G	+	1	0	NFX1	33297242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.507000	0.97996	2.588000	0.87417	0.585000	0.79938	GGT			0.448	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052069.1				C	33307242	G	C	33307242	3	2	70	1	0	0	0	0	1	0	0	0	10404	1348	47	5	1339	5	NFX1	9	33307242	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	12892931	33307242	107906189	37	5020											
FANCG	2189	mdanderson.org	37	chr9	35074208	35074208	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttctaggtacagggggAgagacctggagagaaagaag	14	6	16	5	0	1	3	0	0	1	3	1	7	1	5	1	4	2	2	1	4	4	3			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr9:35074208A>G	ENST00000378643.3	-	14	2257	c.1766T>C	c.(1765-1767)cTc>cCc	p.L589P	FANCG_ENST00000476212.1_5'UTR|VCP_ENST00000358901.6_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	589					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)			GTACAGGGGGAGAGACCTGGA	0.512			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																													p.L589P			yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	.	.			0			c.T1766C												57	56	56					9																	35074208		2203	4300	6503	SO:0001583	missense	2189	exon14			AGGGGGAGAGACC	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.1766T>C	9.37:g.35074208A>G	ENSP00000367910:p.Leu589Pro		61	0.0163934426	1		51	0.06	3	NM_004629	256	0	0		Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278178	0.59758	.	.	ENSG00000221829	ENST00000378643	T	0.68181	-0.31	5.08	2.7	0.31948	.	.	.	.	.	T	0.59032	0.2164	M	0.61703	1.905	0.80722	D	1	B	0.25904	0.137	B	0.21151	0.033	T	0.55547	-0.8124	9	0.87932	D	0	-0.0605	6.5964	0.22677	0.8039:0.0:0.1961:0.0	.	589	O15287	FANCG_HUMAN	P	589	ENSP00000367910:L589P	ENSP00000367910:L589P	L	-	2	0	FANCG	35064208	1.000000	0.71417	0.993000	0.49108	0.832000	0.47134	2.789000	0.47813	0.272000	0.22027	0.374000	0.22700	CTC			0.512	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052269.1		NM_004629		G	35074208	A	G	35074208	3	3	70	1	0	0	0	0	1	0	0	0	5681	304	11	4	106	4	FANCG	9	35074208	Missense_Mutation	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10	1766966	35074208	106139223	38	5021											
ANKRD20A1	84210	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	67968313	67968313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaacacagtgaaagtgtGaaaacagaaagaaacctaaa	23	4	8	6	0	0	4	0	2	0	2	0	4	0	4	1	0	4	1	1	0	8	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr9:67968313G>A	ENST00000377477.2	+	15	1984	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	RP11-195B21.3_ENST00000417488.1_5'Flank	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	624						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						GTGAAAGTGTGAAAACAGAAA	0.368																																					p.V624V													.	ANKRD20A1	16		0			c.G1872A												1	1	1					9																	67968313		215	455	670	SO:0001819	synonymous_variant	84210	exon15			AAGTGTGAAAACA	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"Ankyrin repeat domain containing"	23665	protein-coding gene	gene with protein product			"ankyrin repeat domain 20A"	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.1872G>A	9.37:g.67968313G>A			329	0	0		269	0.22	60	NM_032250	0		0	Q9H0H6	Silent	SNP	ENST00000377477.2	37	CCDS6620.1																																																																																					0.368	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083800.1				A	67968313	G	A	67968313	2	1	70	1	0	0	0	0	0	0	0	1	648	1277	45	3		3	ANKRD20A1	9	67968313	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	32894105	67968313	73245118	39	5022											
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	113169776	113169776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgccattccaagttccatCttcctggcagatcagcacag	10	10	7	14	0	2	1	1	0	1	1	5	1	5	1	4	1	2	3	4	1	1	3			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr9:113169776C>T	ENST00000401783.2	-	38	8440	c.8104G>A	c.(8104-8106)Gat>Aat	p.D2702N	SVEP1_ENST00000374469.1_Missense_Mutation_p.D2679N|SVEP1_ENST00000297826.5_Missense_Mutation_p.D628N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2702	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAAGTTCCATCTTCCTGGCAG	0.438																																					p.D2702N													.	.			0			c.G8104A												160	157	158					9																	113169776		1940	4169	6109	SO:0001583	missense	79987	exon38			TTCCATCTTCCTG	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.8104G>A	9.37:g.113169776C>T	ENSP00000384917:p.Asp2702Asn		76	0	0		54	0.33	18	NM_153366	7	0.29	2	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623269	0.66901	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.63913	-0.07;-0.07;-0.07	5.87	5.87	0.94306	Complement control module (2);Sushi/SCR/CCP (3);	0.044969	0.85682	D	0.000000	T	0.70937	0.3281	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61579	-0.7034	10	0.02654	T	1	.	20.2119	0.98289	0.0:1.0:0.0:0.0	.	2702	Q4LDE5	SVEP1_HUMAN	N	2702;2679;628;374	ENSP00000384917:D2702N;ENSP00000363593:D2679N;ENSP00000297826:D628N	ENSP00000297826:D628N	D	-	1	0	SVEP1	112209597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.891000	0.69782	2.784000	0.95788	0.585000	0.79938	GAT			0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding						T	113169776	C	T	113169776	3	4	70	1	0	0	0	0	1	0	0	0	15443	913	32	3	2655	3	SVEP1	9	113169776	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	45201463	113169776	28043655	40	5023											
ENG	2022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	130578304	130578304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgatgcccagcacggcGggcaggacgaggcctttgct	8	6	16	11	3	0	1	0	1	0	0	0	3	0	2	2	5	3	3	2	5	1	1	rs370943570		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr9:130578304G>A	ENST00000373203.4	-	14	2170	c.1770C>T	c.(1768-1770)ccC>ccT	p.P590P	ENG_ENST00000480266.1_5'Flank|ENG_ENST00000344849.3_Silent_p.P590P|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	590					artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCAGCACGGCGGGCAGGACGA	0.647									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																												p.P590P													.	.			0			c.C1770T							G	,	0,4406		0,0,2203	85	64	71		1770,1770	2.4	1	9		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ENG	NM_000118.2,NM_001114753.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	590/626,590/659	130578304	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2022	exon14	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	CACGGCGGGCAGG	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1770C>T	9.37:g.130578304G>A			95	0	0		70	0.39	27	NM_001114753	153	0.2	30	Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	CCDS48029.1																																																																																					0.647	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054313.1				A	130578304	G	A	130578304	2	1	70	1	0	0	0	0	0	0	0	1	5124	1103	39	1		1	ENG	9	130578304	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	17408528	130578304	10635127	41	5024											
USP20	10868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	132631164	132631164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggacaatgatgctcacctaCgcagctcctctcgcccctgc	7	8	8	18	3	2	1	1	1	1	0	4	2	3	2	4	1	4	3	4	1	2	1	rs540729891		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr9:132631164C>T	ENST00000315480.4	+	12	1317	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	USP20_ENST00000358355.1_Missense_Mutation_p.R387C|USP20_ENST00000372429.3_Missense_Mutation_p.R387C			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	387	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)				TGCTCACCTACGCAGCTCCTC	0.672													C|||	1	0.000199681	0	0	5008	,	,		15409	0.001		0	False		,,,				2504	0				p.R387C													.	.			0			c.C1159T												45	55	52					9																	132631164		2166	4260	6426	SO:0001583	missense	10868	exon12			CACCTACGCAGCT	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.1159C>T	9.37:g.132631164C>T	ENSP00000313811:p.Arg387Cys		45	0	0		47	0.32	15	NM_001008563	23	0.22	5	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867262	0.51588	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.18657	2.2;2.2;2.2	4.94	2.08	0.27032	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.772930	0.02471	N	0.087502	T	0.16300	0.0392	N	0.14661	0.345	0.47511	D	0.999443	B	0.16396	0.017	B	0.10450	0.005	T	0.04103	-1.0977	10	0.48119	T	0.1	.	9.9462	0.41611	0.0:0.7739:0.0:0.2261	.	387	Q9Y2K6	UBP20_HUMAN	C	387	ENSP00000361506:R387C;ENSP00000313811:R387C;ENSP00000351122:R387C	ENSP00000313811:R387C	R	+	1	0	USP20	131670985	1.000000	0.71417	0.229000	0.23960	0.601000	0.36947	1.706000	0.37878	0.140000	0.18849	-0.224000	0.12420	CGC			0.672	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054604.2				T	132631164	C	T	132631164	3	4	70	1	0	0	0	0	1	0	0	0	17076	536	19	1	1197	1	USP20	9	132631164	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	2052860	132631164	8582267	42	5025											
USP6NL	9712	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	11569522	11569522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatatttagcaactatttCagctcgctcctgggcaagtt	9	14	8	10	1	2	0	2	0	0	0	4	0	3	0	1	1	3	5	1	1	5	6			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr10:11569522C>T	ENST00000609104.1	-	3	443	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	USP6NL_ENST00000277575.5_Missense_Mutation_p.E34K|USP6NL_ENST00000379237.2_Missense_Mutation_p.E40K	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	17					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GCAACTATTTCAGCTCGCTCC	0.338																																					p.E34K													.	.			0			c.G100A												54	51	52					10																	11569522		1854	4100	5954	SO:0001583	missense	9712	exon2			CTATTTCAGCTCG	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.49G>A	10.37:g.11569522C>T	ENSP00000476462:p.Glu17Lys		57	0	0		44	0.25	11	NM_001080491	8	0.5	4	A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159861	0.94727	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.30182	1.54;1.54	5.92	5.92	0.95590	.	0.048079	0.85682	D	0.000000	T	0.45756	0.1358	L	0.50333	1.59	0.80722	D	1	P;P	0.39044	0.656;0.589	P;P	0.50378	0.517;0.639	T	0.07462	-1.0771	10	0.40728	T	0.16	.	19.9242	0.97098	0.0:1.0:0.0:0.0	.	17;34	Q92738;Q92738-2	US6NL_HUMAN;.	K	17;34;17	ENSP00000277575:E34K;ENSP00000368539:E17K	ENSP00000277575:E34K	E	-	1	0	USP6NL	11609528	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.243000	0.72384	2.814000	0.96858	0.585000	0.79938	GAA			0.338	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000046764.3		NM_014688		T	11569522	C	T	11569522	3	4	70	1	0	0	0	0	1	0	0	0	17111	835	29	3	2489	3	USP6NL	10	11569522	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10		11569522	123965225	43	5026											
EIF5AL1	143244	bcgsc.ca	37	chr10	81272627	81272627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgaagatatctgcccGtcaactcataatatggatgt	15	12	7	7	1	3	2	2	1	1	1	3	3	3	3	1	1	2	0	1	1	7	4	rs200689309		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr10:81272627G>A	ENST00000520547.2	+	1	271	c.222G>A	c.(220-222)ccG>ccA	p.P74P	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	74					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ATATCTGCCCGTCAACTCATA	0.498																																					p.P74P													.	EIF5AL1	24		0			c.G222A												30	32	32					10																	81272627		2202	4289	6491	SO:0001819	synonymous_variant	143244	exon1			CTGCCCGTCAACT		CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 5A pseudogene 1"	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.222G>A	10.37:g.81272627G>A			145	0.1379310345	20		94	0.45	42	NM_001099692	622	0	0		Silent	SNP	ENST00000520547.2	37	CCDS53546.1																																																																																					0.498	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048954.4		NM_001099692		A	81272627	G	A	81272627	2	1	70	1	0	0	0	0	0	0	0	1	5050	1132	40	1		1	EIF5AL1	10	81272627	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	69703105	81272627	54262120	44	5027											
OBFC1	79991	mdanderson.org	37	chr10	105651979	105651979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaaatatactatgaattGccttggaagtggtgtccttc	10	16	8	7	0	1	1	0	1	1	0	3	2	2	2	2	2	2	0	2	2	7	7			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr10:105651979G>T	ENST00000224950.3	-	8	952	c.785C>A	c.(784-786)gCa>gAa	p.A262E	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.A262E	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	262	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		ACTATGAATTGCCTTGGAAGT	0.358																																					p.A262E													.	.			0			c.C785A												93	94	94					10																	105651979		2203	4300	6503	SO:0001583	missense	79991	exon8			TGAATTGCCTTGG	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.785C>A	10.37:g.105651979G>T	ENSP00000224950:p.Ala262Glu		58	0	0		44	0.07	3	NM_024928	41	0	0	D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	G	3.627	-0.076425	0.07184	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.43294	0.95;0.95	5.52	4.61	0.57282	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.369310	0.31697	N	0.007201	T	0.28134	0.0694	L	0.46157	1.445	0.25732	N	0.985258	P	0.39717	0.684	B	0.37780	0.258	T	0.23119	-1.0197	10	0.02654	T	1	-4.5535	6.5687	0.22527	0.0929:0.0:0.7288:0.1783	.	262	Q9H668	STN1_HUMAN	E	262	ENSP00000224950:A262E;ENSP00000358779:A262E	ENSP00000224950:A262E	A	-	2	0	OBFC1	105641969	0.998000	0.40836	0.699000	0.30290	0.972000	0.66771	0.938000	0.28965	1.292000	0.44672	0.555000	0.69702	GCA			0.358	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050174.1		NM_024928		T	105651979	G	T	105651979	3	4	70	1	0	0	0	0	1	0	0	0	10824	1319	46	2	333	2	OBFC1	10	105651979	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	24379352	105651979	29882768	45	5028											
C10orf90	118611	mdanderson.org	37	chr10	128202503	128202503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctactgtggtagctgtcccGtaatcctaggcaaaagaaga	12	10	10	9	1	1	2	0	0	1	2	3	2	3	2	2	2	2	4	2	2	7	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr10:128202503G>A	ENST00000284694.7	-	2	148	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	C10orf90_ENST00000544758.1_Missense_Mutation_p.R107W|C10orf90_ENST00000356858.3_De_novo_Start_OutOfFrame|C10orf90_ENST00000392694.1_De_novo_Start_OutOfFrame|C10orf90_ENST00000454341.1_Missense_Mutation_p.R10W|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	10					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)		p.R10W(1)		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)		TAGCTGTCCCGTAATCCTAGG	0.343																																					p.R10W													C10orf90,colon,carcinoma,0,1	C10orf90	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C28T												145	134	137					10																	128202503		2203	4300	6503	SO:0001583	missense	118611	exon2			TGTCCCGTAATCC	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.28C>T	10.37:g.128202503G>A	ENSP00000284694:p.Arg10Trp		46	0	0		35	0.09	3	NM_001004298	0		0	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615126	0.28712	.	.	ENSG00000154493	ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.20069	2.11;2.1;2.11;2.11	5.2	2.04	0.26737	.	1.179070	0.06493	N	0.735003	T	0.20210	0.0486	L	0.54323	1.7	0.09310	N	0.999998	B;B;B	0.25007	0.01;0.116;0.01	B;B;B	0.15484	0.003;0.013;0.003	T	0.32052	-0.9921	10	0.87932	D	0	-0.6891	4.4792	0.11759	0.1985:0.0:0.6307:0.1708	.	107;107;10	F5GZL2;B4DMQ6;Q96M02	.;.;CJ090_HUMAN	W	10;10;107;10	ENSP00000284694:R10W;ENSP00000398786:R10W;ENSP00000444369:R107W;ENSP00000405995:R10W	ENSP00000284694:R10W	R	-	1	2	C10orf90	128192493	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	0.432000	0.21461	0.243000	0.21327	0.643000	0.83706	CGG			0.343	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001004298		A	128202503	G	A	128202503	3	1	70	1	0	0	0	0	1	0	0	0	1625	1144	40	1	2103	1	C10orf90	10	128202503	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	22550524	128202503	7332244	46	5029											
MUC6	4588	bcgsc.ca	37	chr11	1017519	1017519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtagaagttgaggtgActtcaggatggtgtgtggag	8	12	19	2	0	1	3	1	2	0	1	1	5	1	5	0	6	0	2	0	6	2	3	rs112553306	byFrequency	TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr11:1017519A>G	ENST00000421673.2	-	31	5332	c.5282T>C	c.(5281-5283)gTc>gCc	p.V1761A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1761	Approximate repeats.|Thr-rich.				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)		AGTTGAGGTGACTTCAGGATG	0.577																																					p.V1761A													.	MUC6	408		0			c.T5282C												739	706	718					11																	1017519		2202	4293	6495	SO:0001583	missense	4588	exon31			GAGGTGACTTCAG	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.5282T>C	11.37:g.1017519A>G	ENSP00000406861:p.Val1761Ala		146	0.0068493151	1		158	0.06	10	NM_005961	169	0.02	3	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	-	6.930	0.541302	0.13250	.	.	ENSG00000184956	ENST00000421673	T	0.17854	2.25	2.8	-3.98	0.04082	.	.	.	.	.	T	0.09905	0.0243	N	0.12182	0.205	0.09310	N	1	D	0.54207	0.965	P	0.55508	0.777	T	0.16748	-1.0392	9	0.08599	T	0.76	.	0.9064	0.01285	0.2478:0.327:0.2605:0.1646	.	1761	Q6W4X9	MUC6_HUMAN	A	1761	ENSP00000406861:V1761A	ENSP00000406861:V1761A	V	-	2	0	MUC6	1007519	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.503000	0.22610	-0.334000	0.08463	-0.736000	0.03550	GTC			0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		G	1017519	A	G	1017519	3	3	70	1	0	0	0	0	1	0	0	0	9996	275	10	4	2049	4	MUC6	11	1017519	Missense_Mutation	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10		1017519	133988997	47	5030											
SCUBE2	57758	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	9096033	9096033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgggcagaggtaccttccGagcggtgaatgcaggtgtgc	7	8	17	9	2	0	2	0	1	0	1	1	3	1	2	2	4	4	4	2	4	2	2	rs72549241	byFrequency	TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr11:9096033G>A	ENST00000309263.3	-	4	584	c.512C>T	c.(511-513)tCg>tTg	p.S171L	SCUBE2_ENST00000457346.2_Missense_Mutation_p.S171L|SCUBE2_ENST00000450649.2_Missense_Mutation_p.S171L|SCUBE2_ENST00000520467.1_Missense_Mutation_p.S171L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	171						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGTACCTTCCGAGCGGTGAAT	0.582																																					p.S171L													SCUBE2_ENST00000457346,NS,malignant_melanoma,+1,5	SCUBE2_ENST00000457346	1	5	0			c.C512T												126	107	113					11																	9096033		2201	4296	6497	SO:0001583	missense	57758	exon4			CCTTCCGAGCGGT	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.512C>T	11.37:g.9096033G>A	ENSP00000310658:p.Ser171Leu		68	0	0		76	0.05	4	NM_001170690	4	0	0	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	G	11.09	1.537285	0.27475	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.08	1.12	0.20585	.	0.188859	0.48286	N	0.000189	T	0.81711	0.4880	L	0.56769	1.78	0.54753	D	0.99998	B;B;B	0.31931	0.347;0.012;0.03	B;B;B	0.28232	0.087;0.019;0.012	T	0.74003	-0.3804	10	0.46703	T	0.11	.	9.751	0.40475	0.2824:0.0:0.7176:0.0	.	171;171;171	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	L	171	ENSP00000390481:S171L;ENSP00000310658:S171L;ENSP00000415187:S171L;ENSP00000429969:S171L	ENSP00000310658:S171L	S	-	2	0	SCUBE2	9052609	1.000000	0.71417	0.123000	0.21794	0.308000	0.27856	4.066000	0.57520	-0.044000	0.13491	-0.258000	0.10820	TCG	0.005		0.582	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000385812.2		NM_020974		A	9096033	G	A	9096033	3	1	70	1	0	0	0	0	1	0	0	0	13968	1059	37	1	2654	1	SCUBE2	11	9096033	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	8078514	9096033	125910483	48	5031											
CRY2	1408	mdanderson.org	37	chr11	45892069	45892069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttaccagcagctttcgcGctaccggggactctgtaagg	8	10	12	11	3	1	0	0	0	1	0	2	2	1	1	2	3	4	4	2	3	3	5			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr11:45892069G>A	ENST00000443527.2	+	9	1620	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	CRY2_ENST00000417225.2_Missense_Mutation_p.R451H	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	512					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|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 sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CAGCTTTCGCGCTACCGGGGA	0.547																																					p.R533H	Esophageal Squamous(106;91 1499 8126 12599 39610)												.	.			0			c.G1598A												60	53	56					11																	45892069		2203	4299	6502	SO:0001583	missense	1408	exon9			TTTCGCGCTACCG	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1598G>A	11.37:g.45892069G>A	ENSP00000406751:p.Arg533His		51	0	0		39	0.08	3	NM_021117	50	0	0	B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421456	0.42918	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.63	5.63	0.86233	.	0.108674	0.64402	D	0.000005	T	0.54224	0.1845	L	0.27053	0.805	0.43485	D	0.995713	B;B;B	0.15930	0.004;0.015;0.013	B;B;B	0.18263	0.004;0.008;0.021	T	0.48502	-0.9030	9	0.51188	T	0.08	-21.012	19.6936	0.96012	0.0:0.0:1.0:0.0	.	512;533;451	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	H	451;533	.	ENSP00000397419:R451H	R	+	2	0	CRY2	45848645	0.971000	0.33674	0.393000	0.26258	0.874000	0.50279	2.442000	0.44873	2.665000	0.90641	0.655000	0.94253	CGC			0.547	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330235.2		NM_021117		A	45892069	G	A	45892069	3	1	70	1	0	0	0	0	1	0	0	0	3906	1087	38	1	1668	1	CRY2	11	45892069	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	36796036	45892069	89114447	49	5032											
NDUFS3	4722	broad.mit.edu;mdanderson.org	37	chr11	47600657	47600657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaacatggcggcggcggCggtagccaggctgtggtggc	6	6	20	9	4	0	0	0	0	0	0	0	1	0	0	1	8	2	3	1	8	2	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr11:47600657C>T	ENST00000263774.4	+	1	96	c.14C>T	c.(13-15)gCg>gTg	p.A5V	NDUFS3_ENST00000534716.2_Missense_Mutation_p.A5V|KBTBD4_ENST00000526005.1_5'Flank|KBTBD4_ENST00000525720.1_5'Flank|NDUFS3_ENST00000534208.1_Missense_Mutation_p.A5V|KBTBD4_ENST00000395288.2_5'Flank|NDUFS3_ENST00000528192.1_Missense_Mutation_p.A5V|NDUFS3_ENST00000533507.1_Intron|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000533290.1_5'Flank|NDUFS3_ENST00000529276.1_Missense_Mutation_p.A5V|KBTBD4_ENST00000430070.2_5'Flank	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	5				MAAAAVA -> MAAGRY (in Ref. 3). {ECO:0000305}.	cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	GCGGCGGCGGCGGTAGCCAGG	0.692																																					p.A5V	Pancreas(15;551 601 22438 23457 52512)												.	NDUFS3	19		0			c.C14T												14	15	15					11																	47600657		2147	4214	6361	SO:0001583	missense	4722	exon1			CGGCGGCGGTAGC	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7710	protein-coding gene	gene with protein product	"complex I 30kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"	603846	"NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.14C>T	11.37:g.47600657C>T	ENSP00000263774:p.Ala5Val		33	0	0		35	0.09	3	NM_004551	134	0	0	B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751818	0.49362	.	.	ENSG00000213619	ENST00000263774;ENST00000529276;ENST00000528192;ENST00000530295;ENST00000534208;ENST00000534716	T;T	0.77489	-1.1;1.42	5.47	4.56	0.56223	.	0.470662	0.23918	N	0.043262	T	0.69949	0.3168	L	0.58101	1.795	0.09310	N	0.999992	B;B	0.20550	0.012;0.046	B;B	0.10450	0.003;0.005	T	0.53704	-0.8401	10	0.09338	T	0.73	-33.586	11.8687	0.52509	0.0:0.9179:0.0:0.0821	.	5;5	B4DFM8;O75489	.;NDUS3_HUMAN	V	5	ENSP00000263774:A5V;ENSP00000432099:A5V	ENSP00000263774:A5V	A	+	2	0	NDUFS3	47557233	0.003000	0.15002	0.016000	0.15963	0.001000	0.01503	0.010000	0.13242	1.455000	0.47813	-0.119000	0.15052	GCG			0.692	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391749.1		NM_004551		T	47600657	C	T	47600657	3	4	70	1	0	0	0	0	1	0	0	0	10310	768	27	1	16	1	NDUFS3	11	47600657	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	1708588	47600657	87405859	50	5033											
KDM2A	22992	hgsc.bcm.edu	37	chr11	67018078	67018078	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggggggagaggaggaggaAgaggaggaggaggaggagga	13	1	26	1	0	0	2	0	0	0	2	0	12	0	11	0	12	0	0	0	12	1	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr11:67018078A>G	ENST00000529006.2	+	17	3023	c.2577A>G	c.(2575-2577)gaA>gaG	p.E859E	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.E420E|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_Silent_p.E317E	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	859					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						aggaggaggaagaggaggagg	0.657																																					p.E859E													.	.			0			c.A2577G												22	26	25					11																	67018078		2104	4223	6327	SO:0001819	synonymous_variant	22992	exon17			GGAGGAAGAGGAG	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.2577A>G	11.37:g.67018078A>G			36	0	0		56	0.11	6	NM_012308	11	0	0	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	CCDS44657.1																																																																																					0.657	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393140.2		NM_012308		G	67018078	A	G	67018078	2	3	70	1	0	0	0	0	0	0	0	1	8139	69	3	4		4	KDM2A	11	67018078	Silent	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10	19417421	67018078	67988438	51	5034											
APOA5	116519	mdanderson.org	37	chr11	116661077	116661077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctgcaggtaggtgtcctGgcggaaagcctgaagtcgct	8	10	14	9	2	1	1	0	1	1	0	3	2	2	2	2	4	2	3	2	4	4	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr11:116661077G>T	ENST00000227665.4	-	3	902	c.868C>A	c.(868-870)Cag>Aag	p.Q290K	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.Q290K			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	290					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TAGGTGTCCTGGCGGAAAGCC	0.662																																					p.Q290K													.	.			0			c.C868A												80	84	83					11																	116661077		2201	4296	6497	SO:0001583	missense	116519	exon4			TGTCCTGGCGGAA	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.868C>A	11.37:g.116661077G>T	ENSP00000227665:p.Gln290Lys		26	0	0		27	0.11	3	NM_052968	1	0	0	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	2.636	-0.285184	0.05605	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.73469	-0.75;-0.75	4.75	4.75	0.60458	Apolipoprotein/apolipophorin (1);	1.024920	0.07818	N	0.959247	T	0.64193	0.2576	N	0.25647	0.755	0.09310	N	1	B;B	0.28820	0.224;0.08	B;B	0.29077	0.098;0.067	T	0.50083	-0.8869	10	0.23302	T	0.38	-2.6722	11.9995	0.53222	0.0:0.0:0.8274:0.1726	.	287;290	B0YIW1;Q6Q788	.;APOA5_HUMAN	K	290	ENSP00000227665:Q290K;ENSP00000445002:Q290K	ENSP00000227665:Q290K	Q	-	1	0	APOA5	116166287	0.076000	0.21285	0.882000	0.34594	0.952000	0.60782	2.188000	0.42612	2.446000	0.82766	0.655000	0.94253	CAG			0.662	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106285.2				T	116661077	G	T	116661077	3	4	70	1	0	0	0	0	1	0	0	0	784	1357	47	3	236	3	APOA5	11	116661077	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	49642999	116661077	18345439	52	5035											
SLC2A14	144195	broad.mit.edu	37	chr12	7982382	7982382	+	Missense_Mutation	SNP	T	T	C																															ctgggccaccagaattccaaTaactatgcccagctggttga																										TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr12:7982382T>C	ENST00000543909.1	-	10	1321	c.562A>G	c.(562-564)Att>Gtt	p.I188V	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.I79V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.I188V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.I165V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.I165V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.I79V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.I203V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	188					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)		AGAATTCCAATAACTATGCCC	0.463													t|||	1	0.000199681	0	0.0014	5008	,	,		-128	0		0	False		,,,				2504	0				p.I188V													.	SLC2A14	78		0			c.A562G												59	57	58					12																	7982382		2203	4300	6503	SO:0001583	missense	144195	exon6			TTCCAATAACTAT	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.562A>G	12.37:g.7982382T>C	ENSP00000440480:p.Ile188Val		308	0	0		647	0.01	8	NM_153449	20	0.65	13	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.560790	0.00136	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234	T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	3.41	-3.45	0.04781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.484851	0.22386	N	0.060748	T	0.57917	0.2086	N	0.13235	0.315	0.09310	N	1	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.19666	0.006;0.003;0.002;0.026	T	0.49163	-0.8968	10	0.08381	T	0.77	.	11.1472	0.48436	0.0:0.6949:0.0:0.3051	.	203;79;165;188	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	V	165;188;165;188;79;79;203;165	ENSP00000340450:I165V;ENSP00000440480:I188V;ENSP00000407287:I165V;ENSP00000379834:I188V;ENSP00000440492:I79V;ENSP00000443903:I79V;ENSP00000445929:I203V;ENSP00000440043:I165V	ENSP00000340450:I165V	I	-	1	0	SLC2A14	7873649	0.000000	0.05858	0.356000	0.25785	0.227000	0.25037	-0.807000	0.04520	-0.528000	0.06366	-0.621000	0.04028	ATT			0.463	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399836.2	rescued with RNA-seq	NM_153449		C	7982382	T	C	7982382	3	2	70	1	0	0	0	0	1	0	0	0	14566	1406	49	4	1028	4	SLC2A14	12	7982382	Missense_Mutation	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10		7982382	125869513	53	5036	8	2									
SLC2A14	144195	broad.mit.edu	37	chr12	7982386	7982386	+	Silent	SNP	T	T	G																															gccaccagaattccaataacTatgcccagctggttgagagt																										TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr12:7982386T>G	ENST00000543909.1	-	10	1317	c.558A>C	c.(556-558)atA>atC	p.I186I	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Silent_p.I77I|SLC2A14_ENST00000396589.2_Silent_p.I186I|SLC2A14_ENST00000431042.2_Silent_p.I163I|SLC2A14_ENST00000340749.5_Silent_p.I163I|SLC2A14_ENST00000542546.1_Silent_p.I77I|SLC2A14_ENST00000539924.1_Silent_p.I201I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	186					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)		TTCCAATAACTATGCCCAGCT	0.463																																					p.I186I													.	SLC2A14	78		0			c.A558C												62	59	60					12																	7982386		2203	4300	6503	SO:0001819	synonymous_variant	144195	exon6			AATAACTATGCCC	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.558A>C	12.37:g.7982386T>G			315	0	0		665	0.01	8	NM_153449	24	0.71	17	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	CCDS8585.1																																																																																					0.463	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399836.2	rescued with RNA-seq	NM_153449		G	7982386	T	G	7982386	2	3	70	1	0	0	0	0	0	0	0	1	14566	1512	53	4		4	SLC2A14	12	7982386	Silent	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10	4	7982386	125869509	54	5037	8	2									
SLC2A3	6515	broad.mit.edu;mdanderson.org	37	chr12	8083900	8083900	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgccaaaggcaccccGcagggcagtaggcgagatct	11	4	15	11	2	1	2	0	0	1	2	1	4	1	2	3	3	1	4	3	3	2	1	rs138143062		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr12:8083900G>T	ENST00000075120.7	-	4	691	c.451C>A	c.(451-453)Cgg>Agg	p.R151R		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	151					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.R151R(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AAGGCACCCCGCAGGGCAGTA	0.507																																					p.R151R	Colon(96;424 1461 14416 20933 23688)												SLC2A3,bladder,carcinoma,0,1	SLC2A3	83	1	1	Substitution - coding silent(1)	urinary_tract(1)	c.C451A							G		2,4404	4.2+/-10.8	0,2,2201	81	76	78		451	3.5	1	12	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC2A3	NM_006931.2		0,3,6500	TT,TG,GG		0.0116,0.0454,0.0231		151/497	8083900	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6515	exon4			CACCCCGCAGGGC	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.451C>A	12.37:g.8083900G>T			325	0	0		680	0.03	18	NM_006931	1127	0.02	17	B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	CCDS8586.1																																																																																					0.507	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257914.1		NM_006931		T	8083900	G	T	8083900	2	4	70	1	0	0	0	0	0	0	0	1	14568	1086	38	1		1	SLC2A3	12	8083900	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	101514	8083900	125767995	55	5038											
SLC2A3	6515	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	8084046	8084046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataaagcagccaccagtgAcagccaacaggttgacaatc	15	5	8	13	0	0	2	0	2	0	0	1	2	0	2	4	1	4	2	4	1	4	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr12:8084046A>G	ENST00000075120.7	-	4	545	c.305T>C	c.(304-306)gTc>gCc	p.V102A		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	102					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCCACCAGTGACAGCCAACAG	0.468																																					p.V102A	Colon(96;424 1461 14416 20933 23688)												.	SLC2A3	83		0			c.T305C												95	90	92					12																	8084046		2203	4300	6503	SO:0001583	missense	6515	exon4			CCAGTGACAGCCA	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.305T>C	12.37:g.8084046A>G	ENSP00000075120:p.Val102Ala		250	0	0		576	0.03	20	NM_006931	1203	0.02	23	B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	A	9.255	1.041674	0.19748	.	.	ENSG00000059804	ENST00000075120;ENST00000540978;ENST00000544291	T;T	0.77877	-1.13;-1.13	4.37	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.734607	0.13196	N	0.406350	T	0.71904	0.3395	L	0.37850	1.14	0.09310	N	1	B;B	0.24651	0.108;0.016	B;B	0.31946	0.138;0.102	T	0.65817	-0.6076	10	0.59425	D	0.04	.	11.8539	0.52427	1.0:0.0:0.0:0.0	.	28;102	F5H2H8;P11169	.;GTR3_HUMAN	A	102;28;71	ENSP00000075120:V102A;ENSP00000440750:V71A	ENSP00000075120:V102A	V	-	2	0	SLC2A3	7975313	0.914000	0.31030	0.002000	0.10522	0.004000	0.04260	8.312000	0.89976	1.965000	0.57142	0.454000	0.30748	GTC			0.468	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257914.1		NM_006931		G	8084046	A	G	8084046	3	3	70	1	0	0	0	0	1	0	0	0	14568	275	10	4	1213	4	SLC2A3	12	8084046	Missense_Mutation	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10	146	8084046	125767849	56	5039											
GUCY2C	2984	broad.mit.edu;bcgsc.ca	37	chr12	14836167	14836167	+	Frame_Shift_Del	DEL	G	G	-																															aaacttccagctgagatcatGgggtagctcaattctgtgtc																										TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr12:14836167delG	ENST00000261170.3	-	4	556	c.420delC	c.(418-420)cccfs	p.P140fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	140					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)	CTGAGATCATGGGGTAGCTCA	0.388																																					p.P140fs													.	GUCY2C	126		0			c.420delC												78	71	74					12																	14836167		2203	4300	6503	SO:0001589	frameshift_variant	2984	exon4			GATCATGGGGTAG		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.420delC	12.37:g.14836167delG	ENSP00000261170:p.Pro140fs		82	0	0		145	0.17	25	NM_004963	1	0	0	B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	37	CCDS8664.1																																																																																					0.388	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400835.1				-	14836167	G	-	14836167	7	5	70	1	0	1	0	1	0	0	0	0	6911	1335	47	0	2897	0	GUCY2C	12	14836167	Frame_Shift_Del	DEL	G	TCGA-2G-AALR-01A-21D-A42Y-10	6752121	14836167	119015728	57	5040											
ERBB3	2065	mdanderson.org	37	chr12	56495768	56495768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtagcttagaggctacaGactctgcctttgataaccct	10	12	8	11	1	1	3	0	1	1	2	1	3	1	3	2	1	5	3	2	1	5	6	rs376777418		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr12:56495768G>T	ENST00000267101.3	+	28	4398	c.3958G>T	c.(3958-3960)Gac>Tac	p.D1320Y	ERBB3_ENST00000450146.2_Missense_Mutation_p.D677Y|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.D440Y|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000415288.2_Missense_Mutation_p.D1261Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D561Y|PA2G4_ENST00000552766.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1320					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)			AGAGGCTACAGACTCTGCCTT	0.527																																					p.D1320Y													.	.			0			c.G3958T												155	165	161					12																	56495768		2203	4299	6502	SO:0001583	missense	2065	exon28			GCTACAGACTCTG	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.3958G>T	12.37:g.56495768G>T	ENSP00000267101:p.Asp1320Tyr		45	0	0		38	0.08	3	NM_001982	111	0	0	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772310	0.31411	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.81078	-1.26;-1.22;-1.25;-1.45;-1.13	5.39	3.48	0.39840	.	0.163796	0.41001	D	0.000964	T	0.73257	0.3564	L	0.27053	0.805	0.40747	D	0.98288	P;P;P	0.49090	0.919;0.498;0.664	B;B;B	0.43701	0.428;0.312;0.166	T	0.79371	-0.1831	10	0.72032	D	0.01	.	16.0675	0.80893	0.0:0.2687:0.7312:0.0	.	1261;440;1320	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	Y	1320;677;1261;443;561;440	ENSP00000267101:D1320Y;ENSP00000399178:D677Y;ENSP00000408340:D1261Y;ENSP00000449129:D561Y;ENSP00000448729:D440Y	ENSP00000267101:D1320Y	D	+	1	0	ERBB3	54782035	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	4.298000	0.59067	1.491000	0.48482	-0.175000	0.13238	GAC			0.527	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407619.3				T	56495768	G	T	56495768	3	4	70	1	0	0	0	0	1	0	0	0	5215	942	33	3	4199	3	ERBB3	12	56495768	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	41659601	56495768	77356127	58	5041											
GRIP1	23426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	66765536	66765536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtttcatttttctcaGggttactgacttcctaccca	6	19	5	11	0	3	1	2	1	2	0	5	1	4	1	2	1	2	2	2	1	2	8			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr12:66765536G>T	ENST00000398016.3	-	22	2862	c.2794C>A	c.(2794-2796)Ctg>Atg	p.L932M	GRIP1_ENST00000286445.7_Missense_Mutation_p.L969M|GRIP1_ENST00000359742.4_Missense_Mutation_p.L984M	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATTTTTCTCAGGGTTACTGAC	0.502																																					p.L932M													.	.			0			c.C2794A												179	184	183					12																	66765536		1990	4168	6158	SO:0001583	missense	23426	exon22			TTCTCAGGGTTAC	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2794C>A	12.37:g.66765536G>T	ENSP00000381098:p.Leu932Met		71	0	0		74	0.23	17	NM_021150	9	0.33	3	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	G	3.569	-0.087933	0.07097	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;1.92	6.13	5.25	0.73442	PDZ/DHR/GLGF (1);	0.048077	0.85682	D	0.000000	T	0.19886	0.0478	N	0.02011	-0.69	0.29077	N	0.882939	B;B;B;B	0.14012	0.005;0.009;0.005;0.004	B;B;B;B	0.14578	0.009;0.005;0.009;0.011	T	0.15178	-1.0446	9	.	.	.	-10.3502	9.5681	0.39411	0.0652:0.0:0.6895:0.2453	.	917;984;932;969	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	M	932;984;969;917;876	ENSP00000381098:L932M;ENSP00000352780:L984M;ENSP00000286445:L969M;ENSP00000446047:L917M;ENSP00000446024:L876M	.	L	-	1	2	GRIP1	65051803	1.000000	0.71417	0.997000	0.53966	0.058000	0.15608	1.041000	0.30291	1.632000	0.50472	0.650000	0.86243	CTG			0.502	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401975.2				T	66765536	G	T	66765536	3	4	70	1	0	0	0	0	1	0	0	0	6802	991	35	3	448	3	GRIP1	12	66765536	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	10269768	66765536	67086359	59	5042											
SELPLG	6404	bcgsc.ca	37	chr12	109017399	109017399	+	Missense_Mutation	SNP	T	T	G																															tgcagtggtctgtgcctccaTggctgtggtttgagtggtct																										TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr12:109017399T>G	ENST00000550948.1	-	2	909	c.685A>C	c.(685-687)Atg>Ctg	p.M229L	SELPLG_ENST00000388962.3_Missense_Mutation_p.M219L|SELPLG_ENST00000228463.6_Missense_Mutation_p.M245L			Q14242	SELPL_HUMAN	selectin P ligand	229	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGTGCCTCCATGGCTGTGGTT	0.622																																					p.M245L													.	SELPLG	138		0			c.A733C												207	165	180					12																	109017399		2203	4300	6503	SO:0001583	missense	6404	exon2			CCTCCATGGCTGT		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.685A>C	12.37:g.109017399T>G	ENSP00000447752:p.Met229Leu		96	0	0		123	0.09	11	NM_001206609	10	0	0	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004459	0.35320	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.13196	2.61;2.61;2.61	3.59	1.15	0.20763	.	0.562534	0.14927	N	0.290313	T	0.08044	0.0201	N	0.19112	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	0.28713	-1.0035	10	0.72032	D	0.01	0.0106	5.5683	0.17182	0.1524:0.0881:0.0:0.7595	.	245;229;189	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	L	219;229;245	ENSP00000373614:M219L;ENSP00000447752:M229L;ENSP00000228463:M245L	ENSP00000228463:M245L	M	-	1	0	SELPLG	107541528	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	0.222000	0.17699	0.231000	0.21079	0.533000	0.62120	ATG			0.622	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403904.1				G	109017399	T	G	109017399	3	3	70	1	0	0	0	0	1	0	0	0	14043	1464	51	4	557	4	SELPLG	12	109017399	Missense_Mutation	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10	42251863	109017399	24834496	60	5043	9	2									
SELPLG	6404	bcgsc.ca	37	chr12	109017401	109017401	+	Missense_Mutation	SNP	G	G	C																															cagtggtctgtgcctccatgGctgtggtttgagtggtctgt																										TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr12:109017401G>C	ENST00000550948.1	-	2	907	c.683C>G	c.(682-684)gCc>gGc	p.A228G	SELPLG_ENST00000388962.3_Missense_Mutation_p.A218G|SELPLG_ENST00000228463.6_Missense_Mutation_p.A244G			Q14242	SELPL_HUMAN	selectin P ligand	228	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGCCTCCATGGCTGTGGTTTG	0.627																																					p.A244G													.	SELPLG	138		0			c.C731G												205	164	178					12																	109017401		2203	4300	6503	SO:0001583	missense	6404	exon2			TCCATGGCTGTGG		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.683C>G	12.37:g.109017401G>C	ENSP00000447752:p.Ala228Gly		93	0	0		121	0.09	11	NM_001206609	10	0	0	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	G	8.958	0.969886	0.18659	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.32753	1.44;1.44;1.44	3.59	1.75	0.24633	.	1.738900	0.03373	N	0.199271	T	0.27559	0.0677	L	0.46157	1.445	0.09310	N	1	P;P;P	0.42518	0.782;0.782;0.782	B;B;B	0.37650	0.255;0.255;0.255	T	0.21042	-1.0257	10	0.32370	T	0.25	-1.7241	6.39	0.21581	0.1906:0.191:0.6184:0.0	.	244;228;188	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	G	218;228;244	ENSP00000373614:A218G;ENSP00000447752:A228G;ENSP00000228463:A244G	ENSP00000228463:A244G	A	-	2	0	SELPLG	107541530	0.001000	0.12720	0.003000	0.11579	0.015000	0.08874	0.534000	0.23098	0.507000	0.28148	0.655000	0.94253	GCC			0.627	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403904.1				C	109017401	G	C	109017401	3	2	70	1	0	0	0	0	1	0	0	0	14043	1203	42	5	559	5	SELPLG	12	109017401	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	2	109017401	24834494	61	5044	9	2									
MPHOSPH8	54737	bcgsc.ca	37	chr13	20208029	20208029	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgagaggagcggaggcCtttggcgacagtgaggagga	9	4	20	8	4	0	2	0	1	0	1	0	8	0	6	2	6	1	0	2	6	0	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr13:20208029C>A	ENST00000361479.5	+	1	209	c.141C>A	c.(139-141)gcC>gcA	p.A47A	MPHOSPH8_ENST00000414242.2_Silent_p.A47A	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	47					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)		GAGCGGAGGCCTTTGGCGACA	0.617																																					p.A47A													.	MPHOSPH8	58		0			c.C141A												53	42	46					13																	20208029		2202	4300	6502	SO:0001819	synonymous_variant	54737	exon1			GGAGGCCTTTGGC	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.141C>A	13.37:g.20208029C>A			120	0	0		67	0.21	14	NM_017520	26	0	0	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Silent	SNP	ENST00000361479.5	37	CCDS9287.1																																																																																					0.617	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044028.2		NM_017520		A	20208029	C	A	20208029	2	1	70	1	0	0	0	0	0	0	0	1	9743	668	24	3		3	MPHOSPH8	13	20208029	Silent	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10		20208029	94961849	62	5045											
PABPC3	5042	bcgsc.ca	37	chr13	25671311	25671315	+	Frame_Shift_Del	DEL	TATGA	TATGA	-																															acaatcactagtgcaaaggtTatgatggaaggtggtcgcag																								rs371130768|rs373128241		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	TATGA	TATGA					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr13:25671311_25671315delTATGA	ENST00000281589.3	+	1	1012_1016	c.975_979delTATGA	c.(973-981)gttatgatgfs	p.MM326fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	326	RRM 4. {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)		GTGCAAAGGTTATGATGGAAGGTGG	0.415																																					p.325_327del													.	PABPC3	129		0			c.975_979del																																									SO:0001589	frameshift_variant	5042	exon1			AAAGGTTATGATG	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.975_979delTATGA	13.37:g.25671311_25671315delTATGA	ENSP00000281589:p.Met326fs		185	0	0		122	0.03	4	NM_030979	12	0	0	Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	CCDS9311.1																																																																																					0.415	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044220.2		NM_030979		-	25671315	TATGA	-	25671311	7	5	70	1	0	1	0	1	0	0	0	0	11382	1741	61	0	977	0	PABPC3	13	25671311	Frame_Shift_Del	DEL	TATGA	TCGA-2G-AALR-01A-21D-A42Y-10	5463282	25671311	89498567	63	5046											
SMOC1	64093	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	70496970	70496970	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcagtaggacgcctcGtctaaggagcagaaaaccca	12	8	9	12	2	3	1	1	0	2	1	5	3	3	3	2	2	2	2	2	2	4	3	rs192204434		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr14:70496970G>C	ENST00000381280.4	+	12	1553	c.1300G>C	c.(1300-1302)Gtc>Ctc	p.V434L	SMOC1_ENST00000361956.3_Missense_Mutation_p.V435L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	434					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)		AGGACGCCTCGTCTAAGGAGC	0.502																																					p.V435L													.	SMOC1	61		0			c.G1303C												97	93	94					14																	70496970		2203	4300	6503	SO:0001583	missense	64093	exon12			CGCCTCGTCTAAG	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.1300G>C	14.37:g.70496970G>C	ENSP00000370680:p.Val434Leu		181	0.0165745856	3		197	0.27	54	NM_001034852	169	0.28	47	A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320411	0.23994	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.56103	0.48;0.49	5.6	4.71	0.59529	.	1.160520	0.06115	N	0.667978	T	0.36690	0.0976	N	0.08118	0	0.27523	N	0.951345	P;P	0.38565	0.637;0.504	B;B	0.33295	0.161;0.077	T	0.40534	-0.9558	10	0.56958	D	0.05	.	13.939	0.64043	0.0728:0.0:0.9272:0.0	.	435;434	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	L	435;434	ENSP00000355110:V435L;ENSP00000370680:V434L	ENSP00000355110:V435L	V	+	1	0	SMOC1	69566723	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	2.047000	0.41269	1.501000	0.48654	-0.145000	0.13849	GTC			0.502	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000412467.1				C	70496970	G	C	70496970	3	2	70	1	0	0	0	0	1	0	0	0	14824	1145	40	5	1349	5	SMOC1	14	70496970	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		70496970	36852570	64	5047											
UNC13C	440279	mdanderson.org	37	chr15	54307876	54307876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagggttatgatggtccaGcagatgatatggttagtgaa	12	12	14	3	0	0	5	0	4	0	1	1	5	1	5	1	3	1	3	1	3	4	3			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr15:54307876G>A	ENST00000260323.11	+	1	2776	c.2776G>A	c.(2776-2778)Gca>Aca	p.A926T	UNC13C_ENST00000545554.1_Missense_Mutation_p.A926T|UNC13C_ENST00000537900.1_Missense_Mutation_p.A926T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	926					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGATGGTCCAGCAGATGATAT	0.388																																					p.A926T													.	.			0			c.G2776A												90	87	88					15																	54307876		1868	4099	5967	SO:0001583	missense	440279	exon1			GGTCCAGCAGATG	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2776G>A	15.37:g.54307876G>A	ENSP00000260323:p.Ala926Thr		84	0	0		81	0.05	4	NM_001080534	2	0	0	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	8.575	0.880891	0.17467	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.78924	-1.22;-1.22;-1.22	5.69	3.77	0.43336	.	.	.	.	.	T	0.55625	0.1932	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38824	-0.9643	9	0.12430	T	0.62	.	4.3587	0.11192	0.0786:0.1256:0.5425:0.2533	.	926	Q8NB66	UN13C_HUMAN	T	926	ENSP00000260323:A926T;ENSP00000438156:A926T;ENSP00000442569:A926T	ENSP00000260323:A926T	A	+	1	0	UNC13C	52095168	0.400000	0.25295	0.983000	0.44433	0.891000	0.51852	1.553000	0.36255	0.721000	0.32231	0.650000	0.86243	GCA			0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000419028.3		NM_173166		A	54307876	G	A	54307876	3	1	70	1	0	0	0	0	1	0	0	0	17010	971	34	2	2778	2	UNC13C	15	54307876	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		54307876	48223516	65	5048											
RPLP1	6176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	69747557	69747557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgcaatgtaggggccGgtggacctgctccagcagct	7	9	13	12	1	2	0	1	0	1	0	3	1	3	1	3	4	4	5	3	4	2	1	rs200917641		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr15:69747557G>T	ENST00000260379.6	+	3	361	c.196G>T	c.(196-198)Ggt>Tgt	p.G66C	U3_ENST00000384391.1_RNA|RPLP1_ENST00000560274.1_Intron|RPLP1_ENST00000357790.5_Missense_Mutation_p.G41C	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	66					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)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			ovary(1)	1						TGTAGGGGCCGGTGGACCTGC	0.562																																					p.G66C													.	.			0			c.G196T												54	56	55					15																	69747557		2199	4298	6497	SO:0001583	missense	6176	exon3			GGGGCCGGTGGAC		CCDS10233.1, CCDS10234.1	15q22	2011-07-29			ENSG00000137818	ENSG00000137818		"L ribosomal proteins"	10372	protein-coding gene	gene with protein product		180520					Standard	NM_001003		Approved	LP1	uc002asd.1	P05386	OTTHUMG00000133359	ENST00000260379.6:c.196G>T	15.37:g.69747557G>T	ENSP00000346037:p.Gly66Cys		141	0	0		97	0.32	31	NM_001003	14447	0.25	3576	A6NIB2	Missense_Mutation	SNP	ENST00000260379.6	37	CCDS10233.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310966	0.81358	.	.	ENSG00000137818	ENST00000260379;ENST00000357790	.	.	.	5.5	4.59	0.56863	.	0.061477	0.64402	D	0.000003	D	0.85208	0.5644	H	0.95004	3.61	0.80722	D	1	D;D	0.69078	0.986;0.997	P;D	0.74674	0.879;0.984	D	0.88075	0.2803	9	0.62326	D	0.03	.	11.9829	0.53129	0.0842:0.0:0.9158:0.0	.	41;66	A6NIB2;P05386	.;RLA1_HUMAN	C	66;41	.	ENSP00000346037:G66C	G	+	1	0	RPLP1	67534611	1.000000	0.71417	0.975000	0.42487	0.842000	0.47809	8.867000	0.92314	1.320000	0.45209	0.557000	0.71058	GGT			0.562	RPLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257195.2		NM_001003		T	69747557	G	T	69747557	3	4	70	1	0	0	0	0	1	0	0	0	13628	1116	39	1	206	1	RPLP1	15	69747557	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	15439681	69747557	32783835	66	5049											
ATP6V0C	527	mdanderson.org	37	chr16	2569648	2569648	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcggggcaccgcccagCagccccgactattcgtgggc	5	5	15	16	5	0	0	0	0	0	0	1	1	0	0	4	3	3	2	4	3	1	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr16:2569648C>T	ENST00000330398.4	+	3	604	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	AMDHD2_ENST00000293971.6_5'Flank|AMDHD2_ENST00000413459.3_5'Flank|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6V0C_ENST00000565223.1_Nonsense_Mutation_p.Q81*|ATP6V0C_ENST00000564973.1_Nonsense_Mutation_p.Q81*|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_3'UTR|AMDHD2_ENST00000302956.4_5'Flank	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	124					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)				CACCGCCCAGCAGCCCCGACT	0.672																																					p.Q124X													.	.			0			c.C370T												43	41	42					16																	2569648		2198	4300	6498	SO:0001587	stop_gained	527	exon3			GCCCAGCAGCCCC	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.370C>T	16.37:g.2569648C>T	ENSP00000329757:p.Gln124*		36	0	0		34	0.09	3	NM_001694	701	0	0	Q6FH26	Nonsense_Mutation	SNP	ENST00000330398.4	37	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503807	0.44558	.	.	ENSG00000185883	ENST00000330398	.	.	.	4.92	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.4524	11.4475	0.50131	0.0:0.9109:0.0:0.0891	.	.	.	.	X	124	.	ENSP00000329757:Q124X	Q	+	1	0	ATP6V0C	2509649	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	5.996000	0.70639	2.297000	0.77311	0.306000	0.20318	CAG			0.672	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250810.1		NM_001694		T	2569648	C	T	2569648	4	4	70	1	0	0	0	0	0	1	0	0	1172	711	25	2	380	2	ATP6V0C	16	2569648	Nonsense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10		2569648	87785105	67	5050											
RABEP2	79874	mdanderson.org	37	chr16	28925602	28925602	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgggacgagctggtaGccaggagggggcaggtagat	8	7	20	6	1	1	1	0	0	1	1	1	4	1	3	1	6	2	4	1	6	2	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr16:28925602G>T	ENST00000358201.4	-	5	1437	c.849C>A	c.(847-849)ggC>ggA	p.G283G	RABEP2_ENST00000544477.1_Silent_p.G212G|RABEP2_ENST00000357573.6_Silent_p.G283G|RABEP2_ENST00000561803.1_5'Flank	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	283					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						CGAGCTGGTAGCCAGGAGGGG	0.652																																					p.G283G	Pancreas(66;639 1284 10093 31061 49099)												.	.			0			c.C849A												25	30	28					16																	28925602		2030	4179	6209	SO:0001819	synonymous_variant	79874	exon5			CTGGTAGCCAGGA	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.849C>A	16.37:g.28925602G>T			64	0	0		37	0.08	3	NM_024816	41	0	0		Silent	SNP	ENST00000358201.4	37	CCDS42140.1																																																																																					0.652	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000432691.1		NM_024816		T	28925602	G	T	28925602	2	4	70	1	0	0	0	0	0	0	0	1	12985	958	34	2		2	RABEP2	16	28925602	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	26355954	28925602	61429151	68	5051											
SLC38A7	55238	mdanderson.org	37	chr16	58713788	58713788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgatgcctgctgccacGccccccgcagtgctgaaggc	6	6	13	16	3	0	1	0	1	0	0	0	2	0	1	5	1	5	3	5	1	1	0	rs373479233		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr16:58713788G>A	ENST00000570101.1	-	2	1126	c.243C>T	c.(241-243)ggC>ggT	p.G81G	SLC38A7_ENST00000564100.1_Silent_p.G81G|SLC38A7_ENST00000564391.1_Silent_p.G81G|SLC38A7_ENST00000219320.4_Silent_p.G81G|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	81					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						CTGCTGCCACGCCCCCCGCAG	0.627																																					p.G81G													.	.			0			c.C243T							G		2,4394	4.2+/-10.8	1,0,2197	44	41	42		243	-5.6	0.8	16		42	0,8600		0,0,4300	no	coding-synonymous	SLC38A7	NM_018231.1		1,0,6497	AA,AG,GG		0.0,0.0455,0.0154		81/463	58713788	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	55238	exon3			TGCCACGCCCCCC	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.243C>T	16.37:g.58713788G>A			32	0	0		25	0.12	3	NM_018231	28	0	0	Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	37	CCDS10800.1																																																																																					0.627	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422206.2		NM_018231		A	58713788	G	A	58713788	2	1	70	1	0	0	0	0	0	0	0	1	14632	1074	38	1		1	SLC38A7	16	58713788	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	29788186	58713788	31640965	69	5052											
SMPD3	55512	mdanderson.org	37	chr16	68398787	68398787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgaagcaggtccagctgCccacaccggatggcgctgtc	7	7	12	15	2	0	1	0	1	0	0	3	2	2	2	4	3	3	3	4	3	1	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr16:68398787C>T	ENST00000219334.5	-	5	2025	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	SMPD3_ENST00000568373.1_Silent_p.G474G|SMPD3_ENST00000563226.1_Silent_p.G474G|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	474					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GGTCCAGCTGCCCACACCGGA	0.607																																					p.G474G													.	.			0			c.G1422A												44	38	40					16																	68398787		2198	4300	6498	SO:0001819	synonymous_variant	55512	exon5			CAGCTGCCCACAC	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1422G>A	16.37:g.68398787C>T			38	0	0		25	0.12	3	NM_018667	5	0	0	B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	37	CCDS10867.1																																																																																					0.607	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268895.3		NM_018667		T	68398787	C	T	68398787	2	4	70	1	0	0	0	0	0	0	0	1	14829	726	26	2		2	SMPD3	16	68398787	Silent	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	9684999	68398787	21955966	70	5053											
SLC38A8	146167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	84075679	84075679	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgaggatgaagacagcGcccatcgaggacagagtggc	12	6	14	9	2	1	4	1	2	0	2	2	7	1	6	1	3	1	0	1	3	1	1	rs140582456		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr16:84075679G>T	ENST00000299709.3	-	1	83	c.84C>A	c.(82-84)ggC>ggA	p.G28G	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	28					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGAAGACAGCGCCCATCGAGG	0.647																																					p.G28G													.	.			0			c.C84A												89	100	96					16																	84075679		2200	4300	6500	SO:0001819	synonymous_variant	146167	exon1			GACAGCGCCCATC		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.84C>A	16.37:g.84075679G>T			55	0	0		71	0.34	24	NM_001080442	2	0	0		Silent	SNP	ENST00000299709.3	37	CCDS32495.1																																																																																					0.647	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432623.1		NM_001080442		T	84075679	G	T	84075679	2	4	70	1	0	0	0	0	0	0	0	1	14633	1074	38	1		1	SLC38A8	16	84075679	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	15676892	84075679	6279074	71	5054											
TP53I13	90313	mdanderson.org	37	chr17	27899194	27899194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctctgcggagctggcGgccccctggcacagaggtga	5	8	15	13	2	1	2	0	1	1	1	1	3	1	3	2	5	3	3	2	5	0	1	rs577200698		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr17:27899194G>T	ENST00000301057.7	+	6	663	c.548G>T	c.(547-549)cGg>cTg	p.R183L	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	183						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CGGAGCTGGCGGCCCCCTGGC	0.657																																					p.R183L													.	.			0			c.G548T												24	26	25					17																	27899194		1998	4154	6152	SO:0001583	missense	90313	exon6			GCTGGCGGCCCCC	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.548G>T	17.37:g.27899194G>T	ENSP00000301057:p.Arg183Leu		26	0	0		36	0.08	3	NM_138349	289	0	0	Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	37	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754752	0.31046	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	2.94	0.34122	.	0.594604	0.14918	N	0.290860	T	0.46946	0.1419	M	0.68317	2.08	0.31318	N	0.686334	P	0.46064	0.872	B	0.42593	0.392	T	0.56667	-0.7941	9	0.62326	D	0.03	-8.6848	9.5052	0.39042	0.0:0.2159:0.7841:0.0	.	183	Q8NBR0	P5I13_HUMAN	L	183	.	ENSP00000301057:R183L	R	+	2	0	TP53I13	24923320	0.488000	0.25996	0.993000	0.49108	0.769000	0.43574	0.574000	0.23714	0.961000	0.38030	0.462000	0.41574	CGG			0.657	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447804.2		NM_138349		T	27899194	G	T	27899194	3	4	70	1	0	0	0	0	1	0	0	0	16410	1116	39	1	570	1	TP53I13	17	27899194	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		27899194	53296016	72	5055											
CCR10	2826	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr17	40831978	40831978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgcggcccagaagcgCgtagcaggctaccatgacgc	9	4	14	14	5	0	2	0	1	0	1	0	2	0	2	2	2	5	3	2	2	3	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr17:40831978C>G	ENST00000332438.4	-	2	701	c.682G>C	c.(682-684)Gcg>Ccg	p.A228P	CCR10_ENST00000591765.1_Missense_Mutation_p.A6P|PLEKHH3_ENST00000293349.6_5'Flank|CNTNAP1_ENST00000264638.4_5'Flank|PLEKHH3_ENST00000412503.1_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	228					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCCAGAAGCGCGTAGCAGGCT	0.751																																					p.A228P													.	.			0			c.G682C												5	5	5					17																	40831978		2020	4008	6028	SO:0001583	missense	2826	exon2			GAAGCGCGTAGCA	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"GPCR / Class A : Chemokine receptors : C-C motif"	4474	protein-coding gene	gene with protein product		600240	"G protein-coupled receptor 2"	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.682G>C	17.37:g.40831978C>G	ENSP00000332504:p.Ala228Pro		14	0	0		23	0.26	6	NM_016602	6	0.17	1	Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	37	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506301	0.44558	.	.	ENSG00000184451	ENST00000332438	T	0.72835	-0.69	4.24	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	N	0.001096	T	0.72104	0.3419	M	0.83774	2.66	0.23731	N	0.996999	P	0.35050	0.482	B	0.40534	0.332	T	0.65368	-0.6185	10	0.49607	T	0.09	.	8.3883	0.32514	0.0:0.7332:0.0:0.2668	.	228	P46092	CCR10_HUMAN	P	228	ENSP00000332504:A228P	ENSP00000332504:A228P	A	-	1	0	CCR10	38085504	0.000000	0.05858	0.996000	0.52242	0.518000	0.34316	-1.138000	0.03216	1.001000	0.39076	-0.448000	0.05591	GCG			0.751	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255406.1		NM_016602		G	40831978	C	G	40831978	3	3	70	1	0	0	0	0	1	0	0	0	2942	768	27	5	410	5	CCR10	17	40831978	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	12932784	40831978	40363232	73	5056											
RUNDC1	146923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	41141537	41141537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatccgagaccttgagatGtttatcaacttcatccaagg	12	11	8	10	1	2	3	2	1	0	3	4	5	4	3	3	1	1	1	3	1	3	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr17:41141537G>A	ENST00000361677.1	+	3	849	c.837G>A	c.(835-837)atG>atA	p.M279I		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	279										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACCTTGAGATGTTTATCAACT	0.443																																					p.M279I													.	.			0			c.G837A												77	70	72					17																	41141537		2203	4300	6503	SO:0001583	missense	146923	exon3			TGAGATGTTTATC	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.837G>A	17.37:g.41141537G>A	ENSP00000354622:p.Met279Ile		75	0	0		108	0.28	30	NM_173079	24	0.13	3	Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793378	0.90453	.	.	ENSG00000198863	ENST00000361677	T	0.18338	2.22	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.09122	-1.0689	10	0.51188	T	0.08	-35.7151	19.2405	0.93881	0.0:0.0:1.0:0.0	.	279	Q96C34	RUND1_HUMAN	I	279	ENSP00000354622:M279I	ENSP00000354622:M279I	M	+	3	0	RUNDC1	38395063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.780000	0.95670	0.655000	0.94253	ATG			0.443	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452464.1		NM_173079		A	41141537	G	A	41141537	3	1	70	1	0	0	0	0	1	0	0	0	13765	1377	48	3	847	3	RUNDC1	17	41141537	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	309559	41141537	40053673	74	5057											
SDK2	54549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	71387578	71387578	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgggaagggcaaaggcttaCcaagaatgatgccattgggg	13	6	15	7	1	0	2	0	1	0	1	0	3	0	3	2	5	2	2	2	5	5	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr17:71387578C>T	ENST00000392650.3	-	28	3998		c.e28+1		SDK2_ENST00000388726.3_Splice_Site	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2						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						CAAAGGCTTACCAAGAATGAT	0.617																																					.													.	.			0			c.3997+1G>A												20	20	20					17																	71387578		2200	4299	6499	SO:0001630	splice_region_variant	54549	exon29			GGCTTACCAAGAA	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.3997+1G>A	17.37:g.71387578C>T			98	0	0		130	0.14	18	NM_001144952	0		0	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Splice_Site	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379211	0.82682	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.227	0.86973	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDK2	68899173	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.244000	0.78228	2.353000	0.79882	0.561000	0.74099	.			0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327598.2		NM_019064	Intron	T	71387578	C	T	71387578	5	4	70	1	0	0	0	0	0	0	1	0	13992	521	18	3	2592	3	SDK2	17	71387578	Splice_Site	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	30246041	71387578	9807632	75	5058											
SLC16A3	9123	mdanderson.org	37	chr17	80195738	80195738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctgctgatggaggcGgtggccgtgctcgtcgggcc	2	9	19	11	4	0	1	0	1	0	0	2	2	0	2	2	6	3	3	2	6	0	0	rs536867522		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr17:80195738G>A	ENST00000581287.1	+	3	3414	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	SLC16A3_ENST00000392339.1_Silent_p.A364A|SLC16A3_ENST00000582743.1_Silent_p.A364A|SLC16A3_ENST00000392341.1_Silent_p.A364A	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	364					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	TGATGGAGGCGGTGGCCGTGC	0.692																																					p.A364A	Pancreas(52;652 1135 19190 37282 52456)												.	.			0			c.G1092A												30	26	27					17																	80195738		2197	4295	6492	SO:0001819	synonymous_variant	9123	exon4			GGAGGCGGTGGCC	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.1092G>A	17.37:g.80195738G>A			13	0	0		22	0.09	2	NM_001206952	307	0	1	B3KXG8|Q2M1P8	Silent	SNP	ENST00000581287.1	37	CCDS11804.1																																																																																					0.692	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443498.1		NM_004207		A	80195738	G	A	80195738	2	1	70	1	0	0	0	0	0	0	0	1	14432	1103	39	1		1	SLC16A3	17	80195738	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	8808160	80195738	999472	76	5059											
SMAD7	4092	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	46474772	46474772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accagttggtttgagaaaatCcatcgggtatctggagtaag	12	11	12	6	1	1	1	0	1	1	1	3	3	2	2	2	3	0	4	2	3	4	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr18:46474772C>A	ENST00000262158.2	-	2	935	c.649G>T	c.(649-651)Gat>Tat	p.D217Y	SMAD7_ENST00000591805.1_Missense_Mutation_p.D2Y|SMAD7_ENST00000589634.1_Missense_Mutation_p.D217Y	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	217	Important for interaction with SMURF2.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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 ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TTGAGAAAATCCATCGGGTAT	0.393																																					p.D217Y													.	.			0			c.G649T												43	50	47					18																	46474772		2203	4300	6503	SO:0001583	missense	4092	exon2			GAAAATCCATCGG	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.649G>T	18.37:g.46474772C>A	ENSP00000262158:p.Asp217Tyr		149	0	0		128	0.09	11	NM_005904	64	0.08	5	B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360044	0.82353	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.96885	-4.16	5.01	5.01	0.66863	SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.97232	0.9095	L	0.60455	1.87	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	D	0.97868	1.0284	10	0.66056	D	0.02	.	17.9442	0.89035	0.0:1.0:0.0:0.0	.	217	O15105	SMAD7_HUMAN	Y	2;217	ENSP00000262158:D217Y	ENSP00000262158:D217Y	D	-	1	0	SMAD7	44728770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.042000	0.76565	2.333000	0.79357	0.563000	0.77884	GAT			0.393	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255906.1		NM_005904		A	46474772	C	A	46474772	3	1	70	1	0	0	0	0	1	0	0	0	14786	855	30	3	643	3	SMAD7	18	46474772	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10		46474772	31602476	77	5060			1	12		2	2	12	C		3.553284e-05
SMAD7	4092	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	46474783	46474783	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagaaaatccatcgggtatCtggagtaaggagggggggga	12	7	18	4	1	1	1	0	1	1	1	3	5	2	4	1	7	0	2	1	7	4	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr18:46474783C>G	ENST00000262158.2	-	2	924	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SMAD7_ENST00000591805.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.R213T	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	213	Important for interaction with SMURF2.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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 ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CATCGGGTATCTGGAGTAAGG	0.388																																					p.R213T													.	SMAD7	22		0			c.G638C												38	46	44					18																	46474783		2203	4300	6503	SO:0001583	missense	4092	exon2			GGGTATCTGGAGT	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.638G>C	18.37:g.46474783C>G	ENSP00000262158:p.Arg213Thr		139	0.0143884892	2		120	0.09	11	NM_005904	70	0.01	1	B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254403	0.59212	.	.	ENSG00000101665	ENST00000262158	D	0.97161	-4.27	5.01	5.01	0.66863	MAD homology, MH1 (1);SMAD/FHA domain (1);	0.164121	0.50627	D	0.000113	D	0.96275	0.8785	M	0.71581	2.175	0.80722	D	1	P	0.41420	0.749	B	0.43225	0.412	D	0.96105	0.9072	10	0.54805	T	0.06	.	12.7516	0.57312	0.0:0.9183:0.0:0.0817	.	213	O15105	SMAD7_HUMAN	T	213	ENSP00000262158:R213T	ENSP00000262158:R213T	R	-	2	0	SMAD7	44728781	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.365000	0.66116	2.333000	0.79357	0.563000	0.77884	AGA			0.388	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255906.1		NM_005904		G	46474783	C	G	46474783	3	3	70	1	0	0	0	0	1	0	0	0	14786	913	32	5	654	5	SMAD7	18	46474783	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	11	46474783	31602465	78	5061			1	12		2	2	12	C		3.553284e-05
AMH	268	ucsc.edu	37	chr19	2249633	2249633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgagacctggccaccttcgGggtctgcaacaccggtgaca	8	6	12	15	3	1	2	0	1	1	1	2	3	1	2	5	4	2	1	5	4	1	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:2249633G>T	ENST00000221496.4	+	1	324	c.302G>T	c.(301-303)gGg>gTg	p.G101V	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	101			G -> V (in PMDS1). {ECO:0000269|PubMed:8162013}.		aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		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)		GCCACCTTCGGGGTCTGCAAC	0.731									Persistant Mullerian Duct Syndrome (type I and II)																												p.G101V													.	AMH	12		0			c.G302T	GRCh37	CM940046	AMH	M								4	5	5					19																	2249633		2017	3989	6006	SO:0001583	missense	268	exon1	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	CCTTCGGGGTCTG	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"Endogenous ligands"	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.302G>T	19.37:g.2249633G>T	ENSP00000221496:p.Gly101Val		15	0	0		7	0.29	2	NM_000479	56	0.41	23	O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	37	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556265	0.45487	.	.	ENSG00000104899	ENST00000221496	D	0.90732	-2.72	3.91	2.84	0.33178	Anti-Mullerian hormone, N-terminal (1);	0.067026	0.64402	D	0.000012	D	0.92893	0.7739	M	0.69823	2.125	0.49687	D	0.999814	D	0.54601	0.967	P	0.58013	0.831	D	0.92530	0.6032	10	0.87932	D	0	-14.1632	11.9415	0.52903	0.0:0.1776:0.8224:0.0	.	101	P03971	MIS_HUMAN	V	101	ENSP00000221496:G101V	ENSP00000221496:G101V	G	+	2	0	AMH	2200633	1.000000	0.71417	0.033000	0.17914	0.081000	0.17604	3.682000	0.54656	0.622000	0.30249	0.456000	0.33151	GGG			0.731	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451276.3		NM_000479		T	2249633	G	T	2249633	3	4	70	1	0	0	0	0	1	0	0	0	572	1232	43	3	304	3	AMH	19	2249633	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		2249633	56879350	79	5062											
ADAMTS10	81794	mdanderson.org	37	chr19	8649876	8649876	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcactcgtgcgacgcctgGcccgtgtggctggtgcagcg	3	8	17	13	5	0	0	0	0	0	0	1	1	0	0	2	3	4	3	2	3	0	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:8649876G>T	ENST00000597188.1	-	25	3375	c.3105C>A	c.(3103-3105)ggC>ggA	p.G1035G	ADAMTS10_ENST00000595838.1_Silent_p.G522G|ADAMTS10_ENST00000270328.4_Silent_p.G1035G|AC130469.2_ENST00000597256.1_RNA	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1035	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCGACGCCTGGCCCGTGTGGC	0.731																																					p.G1035G													.	.			0			c.C3105A												3	3	3					19																	8649876		1648	3012	4660	SO:0001819	synonymous_variant	81794	exon25			CGCCTGGCCCGTG	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.3105C>A	19.37:g.8649876G>T			19	0	0		30	0.1	3	NM_030957	27	0	0	M0QZE4	Silent	SNP	ENST00000597188.1	37	CCDS12206.1																																																																																					0.731	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460085.3		NM_030957		T	8649876	G	T	8649876	2	4	70	1	0	0	0	0	0	0	0	1	256	1190	42	2		2	ADAMTS10	19	8649876	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	6400243	8649876	50479107	80	5063											
PGLYRP2	114770	mdanderson.org	37	chr19	15582890	15582890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgctccccagcggcagCgggggtggatggccgggcat	4	4	19	14	5	0	0	0	0	0	0	1	1	1	1	4	6	2	3	4	6	0	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:15582890C>T	ENST00000340880.4	-	3	1634	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.R385H	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	385					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)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCAGCGGCAGCGGGGGTGGAT	0.642																																					p.R385H													.	.			0			c.G1154A												19	20	20					19																	15582890		2199	4294	6493	SO:0001583	missense	114770	exon3			CGGCAGCGGGGGT	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1154G>A	19.37:g.15582890C>T	ENSP00000345968:p.Arg385His		20	0	0		11	0.18	2	NM_052890	5	0	0	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492765	0.64074	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.35421	1.31;1.31	4.73	4.73	0.59995	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	M	0.91140	3.18	0.50813	D	0.99989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76680	-0.2870	10	0.87932	D	0	-23.6244	15.1901	0.73038	0.0:1.0:0.0:0.0	.	385;385	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	H	385	ENSP00000345968:R385H;ENSP00000292609:R385H	ENSP00000292609:R385H	R	-	2	0	PGLYRP2	15443890	1.000000	0.71417	0.982000	0.44146	0.011000	0.07611	5.174000	0.65015	2.179000	0.69175	0.561000	0.74099	CGC			0.642	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319626.1		NM_052890		T	15582890	C	T	15582890	3	4	70	1	0	0	0	0	1	0	0	0	11811	768	27	1	588	1	PGLYRP2	19	15582890	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	6933014	15582890	43546093	81	5064											
SLC27A1	376497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17598309	17598309	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcggggaccaccgggctGcccaaggctgccattgtcgt	6	7	14	14	4	0	0	0	0	0	0	2	1	0	1	4	4	2	2	4	4	1	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:17598309G>C	ENST00000252595.7	+	4	862	c.765G>C	c.(763-765)ctG>ctC	p.L255L	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.L255L|SLC27A1_ENST00000598424.1_Silent_p.L76L	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	255	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCGGGCTGCCCAAGGCTG	0.617																																					p.L255L													.	.			0			c.G765C												34	34	34					19																	17598309		2203	4300	6503	SO:0001819	synonymous_variant	376497	exon4			CGGGCTGCCCAAG	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.765G>C	19.37:g.17598309G>C			50	0	0		31	0.35	11	NM_198580	54	0.44	24	A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	CCDS32953.1																																																																																					0.617	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464145.1		NM_198580		C	17598309	G	C	17598309	2	2	70	1	0	0	0	0	0	0	0	1	14548	1306	46	5		5	SLC27A1	19	17598309	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	2015419	17598309	41530674	82	5065											
FCHO1	23149	mdanderson.org	37	chr19	17889000	17889000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaacctctttgggccGcccctggagtcagcctttga	7	10	10	14	1	2	2	1	1	1	1	3	3	3	3	6	2	2	0	6	2	2	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:17889000G>A	ENST00000596536.1	+	19	1597	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	FCHO1_ENST00000389133.4_Silent_p.P438P|FCHO1_ENST00000594202.1_Silent_p.P438P|FCHO1_ENST00000595033.1_Silent_p.P388P|FCHO1_ENST00000252771.7_Silent_p.P438P|FCHO1_ENST00000596951.1_Silent_p.P438P|FCHO1_ENST00000600676.1_Silent_p.P438P|FCHO1_ENST00000597512.1_Silent_p.P445P|FCHO1_ENST00000539407.1_Silent_p.P438P	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	438	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTTTGGGCCGCCCCTGGAGT	0.572																																					p.P438P													.	.			0			c.G1314A												76	70	72					19																	17889000		2203	4300	6503	SO:0001819	synonymous_variant	23149	exon18			TGGGCCGCCCCTG	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1314G>A	19.37:g.17889000G>A			27	0	0		40	0.08	3	NM_001161358	5	0	0	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	37	CCDS32955.1																																																																																					0.572	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466946.2		NM_015122		A	17889000	G	A	17889000	2	1	70	1	0	0	0	0	0	0	0	1	5800	1074	38	1		1	FCHO1	19	17889000	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	290691	17889000	41239983	83	5066											
RASGRP4	115727	mdanderson.org	37	chr19	38905583	38905583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggtagaggttgttcaGcttgggtaggtgcaggcggc	6	9	18	8	2	1	1	1	0	0	1	1	1	1	1	1	6	2	7	1	6	2	5	rs527416058		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:38905583G>T	ENST00000587738.1	-	9	1205	c.1135C>A	c.(1135-1137)Ctg>Atg	p.L379M	RASGRP4_ENST00000586305.1_Missense_Mutation_p.L365M|RASGRP4_ENST00000433821.2_Intron|RASGRP4_ENST00000454404.2_Missense_Mutation_p.L345M|RASGRP4_ENST00000587753.1_Intron|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000293062.9_Missense_Mutation_p.L282M			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	379	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGTTGTTCAGCTTGGGTAGG	0.642																																					p.L379M													.	.			0			c.C1135A												22	28	26					19																	38905583		2047	4189	6236	SO:0001583	missense	115727	exon9			TGTTCAGCTTGGG	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1135C>A	19.37:g.38905583G>T	ENSP00000465772:p.Leu379Met		78	0	0		72	0.06	4	NM_170604	4	0	0	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185671	0.21870	.	.	ENSG00000171777	ENST00000293062;ENST00000405332;ENST00000454404	T;T	0.66638	1.47;-0.22	4.96	2.83	0.33086	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.143112	0.48767	D	0.000177	T	0.61451	0.2348	N	0.05534	-0.03	0.45502	D	0.998468	B;D;D;D	0.89917	0.044;0.995;0.994;1.0	B;D;D;D	0.91635	0.275;0.982;0.95;0.999	T	0.54735	-0.8249	10	0.16896	T	0.51	-21.7435	12.1152	0.53861	0.1595:0.0:0.8405:0.0	.	282;345;365;379	C0LTP7;C0LTP4;Q8TDF6-2;Q8TDF6	.;.;.;GRP4_HUMAN	M	282;379;379	ENSP00000293062:L282M;ENSP00000416463:L379M	ENSP00000293062:L282M	L	-	1	2	RASGRP4	43597423	1.000000	0.71417	0.961000	0.40146	0.835000	0.47333	2.674000	0.46867	0.296000	0.22592	-1.134000	0.01955	CTG			0.642	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460540.1		NM_170604		T	38905583	G	T	38905583	3	4	70	1	0	0	0	0	1	0	0	0	13100	962	34	2	922	2	RASGRP4	19	38905583	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	21016583	38905583	20223400	84	5067											
SPTBN4	57731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	41072264	41072264	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcggcgcctgaccaCggtcagctccccagatactg	6	8	10	17	3	2	2	1	1	1	1	4	2	3	2	4	2	3	1	4	2	1	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:41072264C>T	ENST00000352632.3	+	30	6421	c.6335C>T	c.(6334-6336)aCg>aTg	p.T2112M	SPTBN4_ENST00000392025.1_Splice_Site_p.T855M|SPTBN4_ENST00000598249.1_Splice_Site_p.T2112M|SPTBN4_ENST00000338932.3_Splice_Site_p.T2112M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2112					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)			CGCCTGACCACGGTCAGCTCC	0.612																																					p.T2112M													.	.			0			c.C6335T												13	15	14					19																	41072264		2192	4279	6471	SO:0001630	splice_region_variant	57731	exon30			TGACCACGGTCAG	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.6336+1C>T	19.37:g.41072264C>T			36	0	0		25	0.16	4	NM_020971	0		0	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646036	0.87958	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025	T;T;T	0.78707	0.7;-1.2;0.7	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000004	D	0.85566	0.5726	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.77557	0.749;0.99	D	0.86750	0.1960	10	0.72032	D	0.01	.	17.0938	0.86628	0.0:1.0:0.0:0.0	.	855;2112	C9JY79;Q9H254	.;SPTN4_HUMAN	M	2112;2112;2112;855	ENSP00000263373:T2112M;ENSP00000340345:T2112M;ENSP00000375879:T855M	ENSP00000340345:T2112M	T	+	2	0	SPTBN4	45764104	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.474000	0.81024	2.566000	0.86566	0.561000	0.74099	ACG			0.612	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462559.2			Missense_Mutation	T	41072264	C	T	41072264	5	4	70	1	0	0	0	0	0	0	1	0	15144	550	19	1	6543	1	SPTBN4	19	41072264	Splice_Site	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	2166681	41072264	18056719	85	5068											
RSPH6A	81492	mdanderson.org	37	chr19	46299149	46299149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatctgtctcctcgcccTcctcctcctcctcgccctcc	2	12	4	23	2	3	0	1	0	2	0	11	0	8	0	8	0	0	0	8	0	0	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:46299149T>C	ENST00000221538.3	-	6	2274	c.2132A>G	c.(2131-2133)gAg>gGg	p.E711G	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E447G|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	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						ctcctcgccctcctcctcctc	0.557																																					p.E711G													.	.			0			c.A2132G												71	74	73					19																	46299149		2202	4300	6502	SO:0001583	missense	81492	exon6			TCGCCCTCCTCCT	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.2132A>G	19.37:g.46299149T>C	ENSP00000221538:p.Glu711Gly		33	0	0		29	0.07	2	NM_030785	1	0	0	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	t	13.10	2.135003	0.37728	.	.	ENSG00000104941	ENST00000221538	T	0.17528	2.27	4.16	4.16	0.48862	.	0.118988	0.56097	D	0.000036	T	0.37758	0.1015	M	0.67953	2.075	0.40521	D	0.980837	D	0.89917	1.0	D	0.83275	0.996	T	0.23655	-1.0182	10	0.62326	D	0.03	-8.1457	11.5188	0.50539	0.0:0.0:0.0:1.0	.	711	Q9H0K4	RSH6A_HUMAN	G	711	ENSP00000221538:E711G	ENSP00000221538:E711G	E	-	2	0	RSPH6A	50990989	1.000000	0.71417	0.719000	0.30619	0.052000	0.14988	5.577000	0.67444	1.891000	0.54761	0.451000	0.29950	GAG			0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461657.1				C	46299149	T	C	46299149	3	2	70	1	0	0	0	0	1	0	0	0	13730	1551	54	4	25	4	RSPH6A	19	46299149	Missense_Mutation	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10	5226885	46299149	12829834	86	5069											
RCN3	57333	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50045926	50045926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcacctggatgggagtgagGtgggccactgggtgctgccc	5	7	19	10	0	0	1	0	1	0	0	0	3	0	3	3	6	2	2	3	6	0	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:50045926G>T	ENST00000270645.3	+	6	1243	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	266	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		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;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGGGAGTGAGGTGGGCCACTG	0.677																																					p.V266L													.	RCN3	28		0			c.G796T												34	33	33					19																	50045926		2202	4298	6500	SO:0001583	missense	57333	exon6			AGTGAGGTGGGCC	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"EF-hand domain containing"	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.796G>T	19.37:g.50045926G>T	ENSP00000270645:p.Val266Leu		83	0	0		72	0.11	8	NM_020650	55	0.13	7	Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501863	0.26949	.	.	ENSG00000142552	ENST00000270645	T	0.39787	1.06	5.07	4.01	0.46588	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.27559	0.0677	L	0.45285	1.41	0.44289	D	0.997151	B	0.15719	0.014	B	0.18263	0.021	T	0.09037	-1.0693	10	0.02654	T	1	-38.1356	7.7824	0.29072	0.246:0.0:0.754:0.0	.	266	Q96D15	RCN3_HUMAN	L	266	ENSP00000270645:V266L	ENSP00000270645:V266L	V	+	1	0	RCN3	54737738	1.000000	0.71417	0.937000	0.37676	0.045000	0.14185	2.524000	0.45589	2.373000	0.80994	0.585000	0.79938	GTG			0.677	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465261.1		NM_020650		T	50045926	G	T	50045926	3	4	70	1	0	0	0	0	1	0	0	0	13204	1261	44	3	814	3	RCN3	19	50045926	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	3746777	50045926	9083057	87	5070											
PTPRH	5794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	55698956	55698956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catctgagactggctgtggcCcaccagggagagttgctggg	7	8	16	10	0	1	2	0	1	1	2	1	4	1	2	2	4	1	3	2	4	0	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr19:55698956C>T	ENST00000376350.3	-	14	2513	c.2491G>A	c.(2491-2493)Ggc>Agc	p.G831S	PTPRH_ENST00000263434.5_Missense_Mutation_p.G653S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	831	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		G -> D (in dbSNP:rs36092369).		apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGCTGTGGCCCACCAGGGAG	0.582																																					p.G831S													.	.			0			c.G2491A												84	70	75					19																	55698956		2203	4300	6503	SO:0001583	missense	5794	exon14			TGTGGCCCACCAG		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2491G>A	19.37:g.55698956C>T	ENSP00000365528:p.Gly831Ser		116	0	0		112	0.39	44	NM_002842	5	0.6	3	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978262	0.34942	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.10573	2.86;2.86	5.11	0.537	0.17144	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.972561	0.08370	N	0.956268	T	0.10508	0.0257	L	0.41356	1.27	0.46823	D	0.999212	B;B	0.27498	0.18;0.18	B;B	0.27380	0.044;0.079	T	0.09818	-1.0657	10	0.54805	T	0.06	.	8.9445	0.35751	0.0:0.6904:0.0:0.3096	.	653;831	C9JCH2;Q9HD43	.;PTPRH_HUMAN	S	831;653	ENSP00000365528:G831S;ENSP00000263434:G653S	ENSP00000263434:G653S	G	-	1	0	PTPRH	60390768	0.001000	0.12720	0.004000	0.12327	0.005000	0.04900	1.583000	0.36579	0.023000	0.15187	-0.793000	0.03317	GGC			0.582	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452649.1				T	55698956	C	T	55698956	3	4	70	1	0	0	0	0	1	0	0	0	12826	623	22	3	884	3	PTPRH	19	55698956	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	5653030	55698956	3430027	88	5071											
SLC23A2	9962	broad.mit.edu;mdanderson.org	37	chr20	4843482	4843482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggacgcaaagagggcGctgaacttcccgatcatgcc	11	5	14	11	3	1	2	1	1	0	1	2	5	2	4	2	3	2	2	2	3	3	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr20:4843482G>T	ENST00000379333.1	-	14	1820	c.1428C>A	c.(1426-1428)agC>agA	p.S476R	SLC23A2_ENST00000424750.2_Missense_Mutation_p.S362R|SLC23A2_ENST00000338244.1_Missense_Mutation_p.S476R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	476					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						CAAAGAGGGCGCTGAACTTCC	0.572																																					p.S476R													.	SLC23A2	62		0			c.C1428A												65	63	63					20																	4843482		2203	4300	6503	SO:0001583	missense	9962	exon14			GAGGGCGCTGAAC	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.1428C>A	20.37:g.4843482G>T	ENSP00000368637:p.Ser476Arg		64	0	0		35	0.09	3	NM_203327	15	0	0	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	CCDS13085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.34|13.34	2.208979|2.208979	0.39003|0.39003	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.19250	.|2.16;2.16;2.16	5.61|5.61	-2.9|-2.9	0.05648|0.05648	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38214|0.38214	0.1032|0.1032	M|M	0.67569|0.67569	2.06|2.06	0.47584|0.47584	D|D	0.999464|0.999464	.|D;D	.|0.69078	.|0.994;0.997	.|D;D	.|0.67382	.|0.951;0.94	T|T	0.27191|0.27191	-1.0081|-1.0081	5|10	.|0.87932	.|D	.|0	-30.0766|-30.0766	14.4312|14.4312	0.67251|0.67251	0.5015:0.0:0.4985:0.0|0.5015:0.0:0.4985:0.0	.|.	.|362;476	.|B4DJZ1;Q9UGH3	.|.;S23A2_HUMAN	S|R	233|476;476;362	.|ENSP00000368637:S476R;ENSP00000344322:S476R;ENSP00000406601:S362R	.|ENSP00000344322:S476R	R|S	-|-	1|3	0|2	SLC23A2|SLC23A2	4791482|4791482	0.003000|0.003000	0.15002|0.15002	0.953000|0.953000	0.39169|0.39169	0.154000|0.154000	0.21943|0.21943	-0.955000|-0.955000	0.03869|0.03869	-0.664000|-0.664000	0.05324|0.05324	-1.814000|-1.814000	0.00607|0.00607	CGC|AGC			0.572	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077832.1				T	4843482	G	T	4843482	3	4	70	1	0	0	0	0	1	0	0	0	14486	1078	38	1	540	1	SLC23A2	20	4843482	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		4843482	58182038	89	5072											
KIAA1755	85449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	36841586	36841586	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccggaagaaggtggtggcaAgcaaatgctcgcgggcaggg	10	4	19	8	3	0	1	0	0	0	1	1	2	0	2	1	6	2	4	1	6	4	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr20:36841586A>C	ENST00000279024.4	-	14	3732	c.3461T>G	c.(3460-3462)cTt>cGt	p.L1154R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1154										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)				GGTGGTGGCAAGCAAATGCTC	0.652																																					p.L1154R													.	.			0			c.T3461G												45	48	47					20																	36841586		2203	4300	6503	SO:0001583	missense	85449	exon14			GTGGCAAGCAAAT	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.3461T>G	20.37:g.36841586A>C	ENSP00000279024:p.Leu1154Arg		32	0	0		37	0.46	17	NM_001029864	31	0.48	15	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292915	0.23564	.	.	ENSG00000149633	ENST00000279024	T	0.12361	2.69	4.88	0.0738	0.14392	.	0.832724	0.10020	N	0.726076	T	0.10508	0.0257	L	0.40543	1.245	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.33929	-0.9849	10	0.49607	T	0.09	.	4.5089	0.11901	0.3035:0.2126:0.4839:0.0	.	1154	Q5JYT7	K1755_HUMAN	R	1154	ENSP00000279024:L1154R	ENSP00000279024:L1154R	L	-	2	0	KIAA1755	36275000	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.245000	0.18142	-0.190000	0.10465	0.459000	0.35465	CTT			0.652	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079144.3		NM_001029864		C	36841586	A	C	36841586	3	2	70	1	0	0	0	0	1	0	0	0	8272	72	3	4	145	4	KIAA1755	20	36841586	Missense_Mutation	SNP	A	TCGA-2G-AALR-01A-21D-A42Y-10	31998104	36841586	26183934	90	5073											
SEMG1	6406	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	43836447	43836447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaaaggctgtgggttcatgGactaagtaaagaacaaactt	16	9	11	5	0	1	2	1	0	0	2	1	3	1	3	0	3	2	3	0	3	6	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr20:43836447G>A	ENST00000372781.3	+	2	566	c.509G>A	c.(508-510)gGa>gAa	p.G170E	SEMG1_ENST00000244069.6_Missense_Mutation_p.G170E	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	170	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)				TGGGTTCATGGACTAAGTAAA	0.438																																					p.G170E													.	.			0			c.G509A												89	80	83					20																	43836447		2203	4300	6503	SO:0001583	missense	6406	exon2			TTCATGGACTAAG		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.509G>A	20.37:g.43836447G>A	ENSP00000361867:p.Gly170Glu		119	0	0		89	0.07	6	NM_003007	0		0	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	G	9.621	1.133859	0.21123	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.18960	2.18;2.18	0.556	0.556	0.17253	.	.	.	.	.	T	0.41190	0.1148	M	0.74647	2.275	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.12319	-1.0552	8	0.44086	T	0.13	.	.	.	.	.	170;170;170	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	E	170	ENSP00000244069:G170E;ENSP00000361867:G170E	ENSP00000244069:G170E	G	+	2	0	SEMG1	43269861	0.004000	0.15560	0.006000	0.13384	0.008000	0.06430	0.522000	0.22909	0.550000	0.28991	0.557000	0.71058	GGA			0.438	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079416.3		NM_003007		A	43836447	G	A	43836447	3	1	70	1	0	0	0	0	1	0	0	0	14067	1174	41	3	515	3	SEMG1	20	43836447	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	6994861	43836447	19189073	91	5074											
INPP5J	27124	mdanderson.org	37	chr22	31522467	31522467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgacggcgcagacatgatCgccatagggtgaggtggcag	10	5	17	9	4	0	3	0	2	0	1	1	4	0	3	1	4	1	2	1	4	1	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr22:31522467C>T	ENST00000331075.5	+	3	1426	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000405300.1_Silent_p.I92I|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000404390.3_Silent_p.I91I|INPP5J_ENST00000400294.2_Silent_p.I92I|INPP5J_ENST00000412277.2_Silent_p.I392I	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	459	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|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)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	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)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAGACATGATCGCCATAGGGT	0.667																																					p.I91I													.	.			0			c.C273T												113	119	117					22																	31522467		2140	4229	6369	SO:0001819	synonymous_variant	27124	exon3			CATGATCGCCATA	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1377C>T	22.37:g.31522467C>T			40	0	0		45	0.07	3	NM_001002837	8	0	0	B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Silent	SNP	ENST00000331075.5	37																																																																																						0.667	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000321784.1		NM_001002837		T	31522467	C	T	31522467	2	4	70	1	0	0	0	0	0	0	0	1	7774	874	31	1		1	INPP5J	22	31522467	Silent	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10		31522467	19782099	92	5075											
NCF4	4689	ucsc.edu	37	chr22	37261054	37261054	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttgcagagcaagctggagGagcgcttcgggccagacagc	9	6	15	11	2	0	2	0	0	0	2	1	4	0	4	1	3	5	4	1	3	1	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr22:37261054G>T	ENST00000248899.6	+	3	395	c.211G>T	c.(211-213)Gag>Tag	p.E71*	CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000397147.4_Nonsense_Mutation_p.E71*|CTA-833B7.2_ENST00000330602.2_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	71	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CAAGCTGGAGGAGCGCTTCGG	0.597																																					p.E71X													.	NCF4	66		0			c.G211T												87	74	78					22																	37261054		2203	4300	6503	SO:0001587	stop_gained	4689	exon3			CTGGAGGAGCGCT	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.211G>T	22.37:g.37261054G>T	ENSP00000248899:p.Glu71*		58	0	0		39	0.1	4	NM_000631	30	0	0	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Nonsense_Mutation	SNP	ENST00000248899.6	37	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	G	38	6.814323	0.97857	.	.	ENSG00000100365	ENST00000248899;ENST00000397147	.	.	.	5.52	5.52	0.82312	.	0.397165	0.28772	N	0.014191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-37.4449	18.2118	0.89872	0.0:0.0:1.0:0.0	.	.	.	.	X	71	.	ENSP00000248899:E71X	E	+	1	0	NCF4	35591000	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.038000	0.41184	2.586000	0.87340	0.561000	0.74099	GAG			0.597	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318863.1		NM_000631		T	37261054	G	T	37261054	4	4	70	1	0	0	0	0	0	1	0	0	10235	1175	41	3	221	3	NCF4	22	37261054	Nonsense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	5738587	37261054	14043512	93	5076											
SUN2	25777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	39148563	39148563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactcccagccaccgagctcCctccgctgctgctgctgccg	4	7	10	20	3	0	0	0	0	0	0	3	2	3	0	6	0	6	5	6	0	0	0			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr22:39148563C>T	ENST00000405510.1	-	3	429	c.71G>A	c.(70-72)gGg>gAg	p.G24E	SUN2_ENST00000216064.4_Missense_Mutation_p.G24E|SUN2_ENST00000406622.1_Missense_Mutation_p.G24E|SUN2_ENST00000405018.1_Missense_Mutation_p.G24E|SUN2_ENST00000411587.2_Missense_Mutation_p.G59E	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	24	LMNA-binding. {ECO:0000250}.|Ser-rich.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CACCGAGCTCCCTCCGCTGCT	0.617																																					p.G24E													.	.			0			c.G71A												53	46	48					22																	39148563		2203	4300	6503	SO:0001583	missense	25777	exon3			GAGCTCCCTCCGC	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.71G>A	22.37:g.39148563C>T	ENSP00000385740:p.Gly24Glu		40	0	0		37	0.43	16	NM_001199580	86	0.29	25	B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765573	0.69878	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058;ENST00000456894;ENST00000420859;ENST00000452294;ENST00000433561;ENST00000417332;ENST00000439339	T;T;T;T;T;T;T;T;T;T;T;T	0.34275	2.8;2.8;2.68;2.8;2.54;1.42;1.47;1.43;1.45;1.46;1.37;1.46	4.72	3.67	0.42095	.	0.406828	0.23351	N	0.049127	T	0.35770	0.0943	N	0.24115	0.695	0.24093	N	0.995905	P;D;D;D;D	0.59767	0.845;0.986;0.974;0.974;0.974	B;B;B;P;B	0.53450	0.306;0.444;0.444;0.726;0.444	T	0.14615	-1.0466	10	0.59425	D	0.04	-28.0159	12.0698	0.53609	0.0:0.8177:0.1823:0.0	.	59;59;24;24;24	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	E	24;24;24;24;59;24;24;24;24;24;24;24	ENSP00000385740:G24E;ENSP00000216064:G24E;ENSP00000385616:G24E;ENSP00000383992:G24E;ENSP00000395601:G59E;ENSP00000406941:G24E;ENSP00000415588:G24E;ENSP00000408834:G24E;ENSP00000414950:G24E;ENSP00000411615:G24E;ENSP00000412928:G24E;ENSP00000393271:G24E	ENSP00000216064:G24E	G	-	2	0	SUN2	37478509	0.045000	0.20229	0.798000	0.32154	0.902000	0.53008	2.625000	0.46452	1.058000	0.40530	0.650000	0.86243	GGG			0.617	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321057.1		XM_039332		T	39148563	C	T	39148563	3	4	70	1	0	0	0	0	1	0	0	0	15415	623	22	3	2150	3	SUN2	22	39148563	Missense_Mutation	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	1887509	39148563	12156003	94	5077											
TTLL12	23170	ucsc.edu	37	chr22	43579063	43579063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgttccccgggttgggCtgctgcttccgcacctcccg	2	10	12	17	4	0	0	0	0	0	0	4	0	3	0	5	2	3	7	5	2	0	3			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chr22:43579063C>T	ENST00000216129.6	-	2	333	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	90					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCGGGTTGGGCTGCTGCTTCC	0.642																																					p.Q90Q													.	TTLL12	50		0			c.G270A												139	132	134					22																	43579063		2203	4300	6503	SO:0001819	synonymous_variant	23170	exon2			GTTGGGCTGCTGC	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.270G>A	22.37:g.43579063C>T			102	0	0		91	0.05	5	NM_015140	91	0.11	10	Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	CCDS14047.1																																																																																					0.642	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319611.1		NM_015140		T	43579063	C	T	43579063	2	4	70	1	0	0	0	0	0	0	0	1	16749	796	28	2		2	TTLL12	22	43579063	Silent	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	4430500	43579063	7725503	95	5078											
NUDT10	170685	mdanderson.org	37	chrX	51075901	51075901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgcttccggagcgaGcgcgaggacgaggtcctgtt	5	9	16	11	5	0	0	0	0	0	0	2	5	2	2	3	3	4	2	3	3	0	2	rs2801627		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chrX:51075901G>A	ENST00000376006.3	+	2	304	c.84G>A	c.(82-84)gaG>gaA	p.E28E	NUDT10_ENST00000356450.2_Silent_p.E28E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E28E(2)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TCCGGAGCGAGCGCGAGGACG	0.687																																					p.E28E	NSCLC(90;1817 2035 37909 38249)												.	.			2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|prostate(1)	c.G84A												41	35	37					X																	51075901		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			GAGCGAGCGCGAG	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.84G>A	X.37:g.51075901G>A			194	0.0154639175	3		264	0.08	20	NM_153183	26	0	0	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																					0.687	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056578.1		NM_153183		A	51075901	G	A	51075901	2	1	70	1	0	0	0	0	0	0	0	1	10743	962	34	2		2	NUDT10	23	51075901	Silent	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10		51075901	104194659	96	5079											
SATL1	340562	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	84349179	84349179	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctaggtaaagtacctTgccagtccatgagtcgtatg	9	12	10	10	1	1	1	0	1	1	0	4	1	3	1	4	1	2	3	4	1	5	5			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chrX:84349179T>G	ENST00000395409.3	-	4	1830	c.1270A>C	c.(1270-1272)Aag>Cag	p.K424Q	SATL1_ENST00000332921.5_Missense_Mutation_p.K424Q|SATL1_ENST00000509231.1_Missense_Mutation_p.K611Q			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	424	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TAAAGTACCTTGCCAGTCCAT	0.348																																					p.K611Q													.	.			0			c.A1831C												124	102	109					X																	84349179		2203	4300	6503	SO:0001583	missense	340562	exon4			GTACCTTGCCAGT	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.1270A>C	X.37:g.84349179T>G	ENSP00000378804:p.Lys424Gln		219	0	0		324	0.06	21	NM_001012980	0		0	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	T	17.19	3.326326	0.60743	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.45276	1.91;0.9;0.9	5.03	5.03	0.67393	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.33364	N	0.004999	T	0.58595	0.2133	M	0.62723	1.935	0.32722	N	0.510202	D;P	0.89917	1.0;0.456	D;P	0.73708	0.981;0.598	T	0.70317	-0.4905	10	0.72032	D	0.01	-26.6159	10.3639	0.44012	0.0:0.0:0.0:1.0	.	424;611	Q86VE3;E9PB72	SATL1_HUMAN;.	Q	424;424;611	ENSP00000378804:K424Q;ENSP00000329115:K424Q;ENSP00000425421:K611Q	ENSP00000329115:K424Q	K	-	1	0	SATL1	84235835	1.000000	0.71417	0.998000	0.56505	0.489000	0.33432	3.067000	0.50010	1.786000	0.52430	0.486000	0.48141	AAG			0.348	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				XM_291339		G	84349179	T	G	84349179	3	3	70	1	0	0	0	0	1	0	0	0	13878	1821	63	4	75	4	SATL1	23	84349179	Missense_Mutation	SNP	T	TCGA-2G-AALR-01A-21D-A42Y-10	33273278	84349179	70921381	97	5080											
STAG2	10735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	123184103	123184103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggatgaagatgtatagtGatgcctttcttaatgacagt	11	16	10	4	0	1	4	0	3	1	1	1	5	1	5	1	1	1	1	1	1	4	5			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chrX:123184103G>T	ENST00000371160.1	+	11	1251	c.961G>T	c.(961-963)Gat>Tat	p.D321Y	STAG2_ENST00000371144.3_Missense_Mutation_p.D321Y|STAG2_ENST00000354548.5_Missense_Mutation_p.D252Y|STAG2_ENST00000371145.3_Missense_Mutation_p.D321Y|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.D321Y|STAG2_ENST00000371157.3_Missense_Mutation_p.D321Y	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	321	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				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						GATGTATAGTGATGCCTTTCT	0.388																																					p.D321Y													.	.			0			c.G961T												280	233	249					X																	123184103		2203	4300	6503	SO:0001583	missense	10735	exon11			TATAGTGATGCCT	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.961G>T	X.37:g.123184103G>T	ENSP00000360202:p.Asp321Tyr		38	0	0		57	0.32	18	NM_001042749	19	0.32	6	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645187	0.87859	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.54	5.54	0.83059	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.048644	0.85682	D	0.000000	T	0.62478	0.2431	M	0.81112	2.525	0.80722	D	1	D;P	0.56746	0.977;0.836	D;P	0.63381	0.914;0.62	T	0.67133	-0.5747	10	0.72032	D	0.01	-13.8301	18.6859	0.91563	0.0:0.0:1.0:0.0	.	321;321	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	Y	321;321;252;321;321;321;321	ENSP00000218089:D321Y;ENSP00000397265:D321Y;ENSP00000346555:D252Y;ENSP00000360202:D321Y;ENSP00000360199:D321Y;ENSP00000360187:D321Y;ENSP00000360186:D321Y	ENSP00000218089:D321Y	D	+	1	0	STAG2	123011784	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.444000	0.82710	0.600000	0.82982	GAT			0.388	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000156159.2		NM_006603		T	123184103	G	T	123184103	3	4	70	1	0	0	0	0	1	0	0	0	15266	1290	45	3	995	3	STAG2	23	123184103	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	38834924	123184103	32086457	98	5081											
ARHGEF6	9459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	135763031	135763031	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacaattctctccactgtGttacctacatcccccaatta	11	12	2	16	0	1	0	0	0	1	0	4	0	3	0	5	0	2	1	5	0	5	4			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chrX:135763031G>C	ENST00000250617.6	-	15	2768	c.1563C>G	c.(1561-1563)aaC>aaG	p.N521K	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.N394K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.N367K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.N367K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	521	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					TCTCCACTGTGTTACCTACAT	0.433																																					p.N521K													.	.			0			c.C1563G												171	132	145					X																	135763031		2203	4300	6503	SO:0001583	missense	9459	exon15			CACTGTGTTACCT	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.1563C>G	X.37:g.135763031G>C	ENSP00000250617:p.Asn521Lys		75	0	0		113	0.14	16	NM_004840	5	0	0	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	4.894	0.166188	0.09339	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.9	4.9	0.64082	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.699263	0.15465	N	0.260929	T	0.59689	0.2212	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.008;0.019	B;B	0.29176	0.027;0.099	T	0.47560	-0.9108	10	0.11182	T	0.66	.	6.982	0.24708	0.092:0.0:0.7339:0.1741	.	394;521	B7Z3C7;Q15052	.;ARHG6_HUMAN	K	521;367;367;367;394	ENSP00000250617:N521K;ENSP00000359654:N367K;ENSP00000359656:N367K;ENSP00000439483:N394K	ENSP00000250617:N521K	N	-	3	2	ARHGEF6	135590697	0.828000	0.29307	0.055000	0.19348	0.011000	0.07611	3.689000	0.54706	2.149000	0.67028	0.415000	0.27848	AAC			0.433	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058511.2		NM_004840		C	135763031	G	C	135763031	3	2	70	1	0	0	0	0	1	0	0	0	910	1368	48	5	799	5	ARHGEF6	23	135763031	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	12578928	135763031	19507529	99	5082											
ZNF185	7739	hgsc.bcm.edu;mdanderson.org	37	chrX	152110348	152110348	+	Intron	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggatcacgaatgggccCgaggagctggctgccccttc	7	6	14	14	3	1	0	1	0	0	0	2	5	1	2	4	4	2	2	4	4	1	1			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chrX:152110348C>A	ENST00000370268.4	+	16	1245				ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000449285.2_Intron|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000539731.1_Intron|ZNF185_ENST00000535861.1_Intron|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000454925.1_Silent_p.P32P|ZNF185_ENST00000370270.2_Intron			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)							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)					CGAATGGGCCCGAGGAGCTGG	0.721																																					p.P32P													.	.			0			c.C96A																																									SO:0001627	intron_variant	7739	exon1			TGGGCCCGAGGAG	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.1209-3463C>A	X.37:g.152110348C>A			28	0	0		58	0.09	5	NM_001178115	0		0	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Silent	SNP	ENST00000370268.4	37	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	C	4.665	0.123727	0.08931	.	.	ENSG00000147394	ENST00000454925	.	.	.	2.42	-0.735	0.11137	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.36792	-0.9733	5	0.87932	D	0	.	0.7827	0.01043	0.1985:0.3324:0.2879:0.1812	.	.	.	.	Q	35	.	ENSP00000392984:P35Q	P	+	2	0	ZNF185	151861004	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-4.366000	0.00245	-0.314000	0.08716	0.523000	0.50628	CCG			0.721	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000377480.1		NM_007150		A	152110348	C	A	152110348	1	1	70	0	1	0	0	0	0	0	0	0	17775	639	23	1		1	ZNF185	23	152110348	Intron	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	16347317	152110348	3160212	100	5083											
ZNF275	10838	mdanderson.org	37	chrX	152612977	152612977	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtccttccgaggggtcaaCgggctggccgagcaccagcg	8	5	15	13	4	1	0	1	0	0	0	3	2	3	0	4	4	3	2	4	4	2	1	rs372792162		TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chrX:152612977C>T	ENST00000421401.3	+	4	1011	c.834C>T	c.(832-834)aaC>aaT	p.N278N	ZNF275_ENST00000440091.1_Silent_p.N308N|ZNF275_ENST00000370249.2_Silent_p.N225N|ZNF275_ENST00000370251.3_Silent_p.N278N			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGGTCAACGGGCTGGCCG	0.642																																					p.N278N													.	.			0			c.C834T							C		0,3807		0,0,1618,571	22	24	24		834	-1.8	0	X		24	1,6711		0,1,2425,1860	no	coding-synonymous	ZNF275	NM_001080485.3		0,1,4043,2431	TT,TC,CC,C		0.0149,0.0,0.0095		278/330	152612977	1,10518	2189	4286	6475	SO:0001819	synonymous_variant	10838	exon4			GGTCAACGGGCTG	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.834C>T	X.37:g.152612977C>T			20	0	0		42	0.07	3	NM_001080485	8	0	0	A6NE92	Silent	SNP	ENST00000421401.3	37																																																																																						0.642	ZNF275-201	KNOWN	basic	protein_coding	protein_coding				NM_001080485		T	152612977	C	T	152612977	2	4	70	1	0	0	0	0	0	0	0	1	17833	535	19	1		1	ZNF275	23	152612977	Silent	SNP	C	TCGA-2G-AALR-01A-21D-A42Y-10	502629	152612977	2657583	101	5084											
ABCD1	215	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	153001577	153001577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgcagatgcagaggccGtgaagaaggcagccttggaa	11	7	15	8	1	0	4	0	1	0	3	0	5	0	5	2	3	3	4	2	3	3	2			TCGA-2G-AALR-01A-21D-A42Y-10	TCGA-2G-AALR-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e341fe71-7bdf-465a-8db7-644efb9ea2f6	5e1c1269-3ba2-4319-ab56-c708c5bb0939	g.chrX:153001577G>C	ENST00000218104.3	+	3	1492	c.1093G>C	c.(1093-1095)Gtg>Ctg	p.V365L	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	365	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)					TGCAGAGGCCGTGAAGAAGGC	0.617																																					p.V365L													.	.			0			c.G1093C												68	65	66					X																	153001577		2203	4299	6502	SO:0001583	missense	215	exon3			GAGGCCGTGAAGA	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.1093G>C	X.37:g.153001577G>C	ENSP00000218104:p.Val365Leu		67	0	0		150	0.11	16	NM_000033	62	0.06	4	Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	5.013	0.188129	0.09547	.	.	ENSG00000101986	ENST00000218104	D	0.93547	-3.24	4.53	-0.227	0.13102	.	0.368036	0.23622	N	0.046228	D	0.83751	0.5322	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.67484	-0.5659	10	0.07030	T	0.85	-3.8596	5.2706	0.15622	0.2507:0.0:0.6051:0.1442	.	365	P33897	ABCD1_HUMAN	L	365	ENSP00000218104:V365L	ENSP00000218104:V365L	V	+	1	0	ABCD1	152654771	0.965000	0.33210	0.000000	0.03702	0.010000	0.07245	1.570000	0.36439	-0.456000	0.07043	-0.407000	0.06327	GTG			0.617	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061041.1		NM_000033		C	153001577	G	C	153001577	3	2	70	1	0	0	0	0	1	0	0	0	60	1145	40	5	1103	5	ABCD1	23	153001577	Missense_Mutation	SNP	G	TCGA-2G-AALR-01A-21D-A42Y-10	388600	153001577	2268983	102	5085											
NBPF3	84224	broad.mit.edu	37	chr1	21807432	21807432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttattgcaggaatgaaaaAggaccaagaagaggaagaag	20	6	12	3	0	0	4	0	1	0	3	0	7	0	7	1	3	1	1	1	3	8	3			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	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																																					p.P464R													.	NBPF3	55		0			c.C1391G												87	127	114					1																	21807432		2185	4299	6484	SO:0001583	missense	84224	exon12			TGAAAAAGGACCA	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		239	0	0		258	0.02	4	NM_032264	1	0	0	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	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		G	21807432	A	G	21807432	3	3	71	1	0	0	0	0	1	0	0	0	10214	72	3	4	1433	4	NBPF3	1	21807432	Missense_Mutation	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10		21807432	227443189	1	5086											
GJA9	81025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	39340498	39340498	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgtagaggaaccccatgTagctctaagccaccgcggtt	9	10	10	12	2	2	1	0	0	2	1	2	2	2	2	4	2	3	4	4	2	4	5			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr1:39340498T>C	ENST00000360786.3	-	1	1525	c.1273A>G	c.(1273-1275)Aca>Gca	p.T425A	RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.T425A|GJA9_ENST00000357771.3_Missense_Mutation_p.T425A|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	425					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GAACCCCATGTAGCTCTAAGC	0.512																																					p.T425A													.	.			0			c.A1273G												94	93	93					1																	39340498		2203	4300	6503	SO:0001583	missense	81025	exon2			CCCATGTAGCTCT	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1273A>G	1.37:g.39340498T>C	ENSP00000354020:p.Thr425Ala		193	0	0		238	0.14	33	NM_030772	0		0	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	CCDS432.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241175	0.22711	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97710	-4.5;-4.38;-4.38	4.49	0.421	0.16451	.	76.416700	0.00520	U	0.000180	D	0.94072	0.8100	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	D	0.87135	0.2199	10	0.35671	T	0.21	.	6.0075	0.19554	0.0:0.0998:0.4758:0.4245	.	425	P57773	CXA9_HUMAN	A	425	ENSP00000406846:T425A;ENSP00000350415:T425A;ENSP00000354020:T425A	ENSP00000350415:T425A	T	-	1	0	GJA9	39113085	0.072000	0.21174	0.001000	0.08648	0.013000	0.08279	0.900000	0.28431	0.289000	0.22422	-0.256000	0.11100	ACA			0.512	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001205.1		NM_030772		C	39340498	T	C	39340498	3	2	71	1	0	0	0	0	1	0	0	0	6420	1638	57	4	278	4	GJA9	1	39340498	Missense_Mutation	SNP	T	TCGA-2G-AALS-01A-12D-A42Y-10	17533066	39340498	209910123	2	5087											
FUBP1	8880	broad.mit.edu	37	chr1	78430879	78430879	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccaggagctggtcttccTttttcaacaatctggtccag	9	12	9	11	0	3	0	1	0	2	0	5	1	5	1	3	3	3	1	3	3	3	3			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr1:78430879T>C	ENST00000370768.2	-	8	591	c.510A>G	c.(508-510)aaA>aaG	p.K170K	FUBP1_ENST00000370767.1_Silent_p.K170K|FUBP1_ENST00000436586.2_Silent_p.K191K	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	170					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTGGTCTTCCTTTTTCAACAA	0.403			"F, N"		oligodendroglioma																																p.K170K				Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	.	FUBP1	112		0			c.A510G												122	118	119					1																	78430879		2203	4300	6503	SO:0001819	synonymous_variant	8880	exon8			TCTTCCTTTTTCA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.510A>G	1.37:g.78430879T>C			102	0	0		101	0.03	3	NM_003902	76	0	0	Q12828	Silent	SNP	ENST00000370768.2	37	CCDS683.1																																																																																					0.403	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098030.3		NM_003902		C	78430879	T	C	78430879	2	2	71	1	0	0	0	0	0	0	0	1	6105	1606	56	4		4	FUBP1	1	78430879	Silent	SNP	T	TCGA-2G-AALS-01A-12D-A42Y-10	39090381	78430879	170819742	3	5088											
VPS72	6944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	151156791	151156791	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctgaaaccacagacttAcccagtgaccgtaaattaag	14	11	6	10	1	1	3	0	2	1	1	1	3	1	3	3	0	2	1	3	0	5	5			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr1:151156791A>T	ENST00000354473.4	-	4	599		c.e4+1		VPS72_ENST00000496809.1_Splice_Site			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)						chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCACAGACTTACCCAGTGACC	0.527																																					.	Pancreas(109;1131 2287 3209 24201)												.	.			0			c.562+2T>A												189	205	200					1																	151156791		2203	4300	6503	SO:0001630	splice_region_variant	6944	exon5			AGACTTACCCAGT	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.562+1T>A	1.37:g.151156791A>T			83	0	0		93	0.12	11	NM_005997	4	1	4	A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Splice_Site	SNP	ENST00000354473.4	37	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	a	28.9	4.963883	0.92791	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.169	0.81790	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS72	149423415	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.971000	0.93419	2.302000	0.77476	0.528000	0.53228	.			0.527	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000034394.3		NM_005997	Intron	T	151156791	A	T	151156791	5	4	71	1	0	0	0	0	0	0	1	0	17241	405	14	5	542	5	VPS72	1	151156791	Splice_Site	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10	72725912	151156791	98093830	4	5089											
TTC24	164118	hgsc.bcm.edu;mdanderson.org	37	chr1	156551835	156551835	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagccggaggcttgccGagaggagcactgagaggcga	13	3	17	8	3	0	3	0	1	0	3	0	8	0	5	2	4	3	2	2	4	2	1			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr1:156551835G>T	ENST00000368237.3	+	1	679	c.679G>T	c.(679-681)Gag>Tag	p.E227*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.E227*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	227										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGCTTGCCGAGAGGAGCAC	0.627																																					p.E227X													.	.			0			c.G679T												8	9	9					1																	156551835		691	1588	2279	SO:0001587	stop_gained	164118	exon2			CTTGCCGAGAGGA		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.679G>T	1.37:g.156551835G>T	ENSP00000357220:p.Glu227*		49	0	0		69	0.06	4	NM_001105669	0		0	Q5T3H7	Nonsense_Mutation	SNP	ENST00000368237.3	37	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369750	0.82573	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	.	.	.	4.58	2.68	0.31781	.	1.017200	0.07890	N	0.970985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-3.4477	9.8473	0.41034	0.1696:0.0:0.8304:0.0	.	.	.	.	X	227	.	ENSP00000357219:E227X	E	+	1	0	TTC24	154818459	0.890000	0.30428	0.419000	0.26584	0.179000	0.23085	2.483000	0.45233	0.547000	0.28938	0.455000	0.32223	GAG			0.627	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000158547.1		XM_089384		T	156551835	G	T	156551835	4	4	71	1	0	0	0	0	0	1	0	0	16716	1059	37	1	681	1	TTC24	1	156551835	Nonsense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	5395044	156551835	92698786	5	5090											
MRPS14	63931	mdanderson.org	37	chr1	174983908	174983908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttcacaccacgcggacggGacgtcataacacaccgattt	11	7	9	14	5	2	0	2	0	0	0	2	3	2	2	2	2	1	1	2	2	1	3			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr1:174983908G>T	ENST00000476371.1	-	3	300	c.284C>A	c.(283-285)tCc>tAc	p.S95Y	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14											large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						ACGCGGACGGGACGTCATAAC	0.522																																					p.S95Y													.	.			0			c.C284A												156	145	149					1																	174983908		2203	4300	6503	SO:0001583	missense	63931	exon3			GGACGGGACGTCA	AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"Mitochondrial ribosomal proteins / small subunits"	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.284C>A	1.37:g.174983908G>T	ENSP00000420714:p.Ser95Tyr		93	0	0		100	0.06	6	NM_022100	75	0	0		Missense_Mutation	SNP	ENST00000476371.1	37	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535043	0.96460	.	.	ENSG00000120333	ENST00000476371	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.85539	0.5720	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86440	0.1766	9	0.87932	D	0	-14.4346	20.6593	0.99626	0.0:0.0:1.0:0.0	.	95	O60783	RT14_HUMAN	Y	95	.	ENSP00000420714:S95Y	S	-	2	0	MRPS14	173250531	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.623000	0.98386	2.885000	0.99019	0.655000	0.94253	TCC			0.522	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084416.2		NM_022100		T	174983908	G	T	174983908	3	4	71	1	0	0	0	0	1	0	0	0	9840	1174	41	3	106	3	MRPS14	1	174983908	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	18432073	174983908	74266713	6	5091											
OBSL1	23363	mdanderson.org	37	chr2	220430187	220430187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacccgctctgaggttgtGaaggtcaacgacaccctgtc	9	8	10	14	2	2	2	1	2	1	0	3	3	2	2	3	2	1	2	3	2	2	1			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr2:220430187G>T	ENST00000404537.1	-	6	2240	c.2184C>A	c.(2182-2184)ttC>ttA	p.F728L	OBSL1_ENST00000373873.4_Missense_Mutation_p.F728L|OBSL1_ENST00000289656.3_Missense_Mutation_p.F315L|OBSL1_ENST00000265318.4_Missense_Mutation_p.F728L|OBSL1_ENST00000603926.1_Missense_Mutation_p.F728L|OBSL1_ENST00000373876.1_Missense_Mutation_p.F728L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	728	Ig-like 5.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGAGGTTGTGAAGGTCAACG	0.607											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.F728L													.	.			0			c.C2184A												98	98	98					2																	220430187		2063	4205	6268	SO:0001583	missense	23363	exon6			GGTTGTGAAGGTC	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2184C>A	2.37:g.220430187G>T	ENSP00000385636:p.Phe728Leu		35	0	0	2266	39	0.08	3	NM_001173431	108	0	0	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	8.839	0.941868	0.18281	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.95	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49745	0.1575	L	0.45228	1.405	0.09310	N	1	B;B;P;B	0.43542	0.123;0.123;0.81;0.015	B;B;B;B	0.37015	0.142;0.142;0.239;0.026	T	0.31613	-0.9937	9	0.23891	T	0.37	.	10.3171	0.43743	0.2384:0.0:0.7616:0.0	.	729;728;315;728	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	L	728;728;728;728;315	ENSP00000265318:F728L;ENSP00000385636:F728L;ENSP00000362983:F728L;ENSP00000362980:F728L;ENSP00000289656:F315L	ENSP00000265318:F728L	F	-	3	2	OBSL1	220138431	0.087000	0.21565	1.000000	0.80357	0.156000	0.22039	1.112000	0.31172	1.530000	0.49136	0.655000	0.94253	TTC			0.607	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322012.1				T	220430187	G	T	220430187	3	4	71	1	0	0	0	0	1	0	0	0	10830	1281	45	3	3722	3	OBSL1	2	220430187	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		220430187	22769186	7	5092											
GPC1	2817	mdanderson.org	37	chr2	241401916	241401916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagagagctgcgcctgCgggccacccgtgccttcgtg	4	6	14	17	5	0	1	0	0	0	1	1	3	0	1	6	1	4	1	6	1	0	1			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr2:241401916C>T	ENST00000264039.2	+	3	882	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	212					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)		GCTGCGCCTGCGGGCCACCCG	0.711																																					p.R212W													.	.			0			c.C634T												10	12	11					2																	241401916		2165	4256	6421	SO:0001583	missense	2817	exon3			CGCCTGCGGGCCA	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.634C>T	2.37:g.241401916C>T	ENSP00000264039:p.Arg212Trp		15	0	0		23	0.09	2	NM_002081	31	0	0	B3KTD1|Q53QM4	Missense_Mutation	SNP	ENST00000264039.2	37	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.239686|3.239686	0.58995|0.58995	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000264039	.|T	.|0.53640	.|0.61	3.11|3.11	2.19|2.19	0.27852|0.27852	.|.	.|0.538029	.|0.17656	.|N	.|0.166494	T|T	0.62270|0.62270	0.2414|0.2414	M|M	0.70595|0.70595	2.14|2.14	0.32039|0.32039	N|N	0.598427|0.598427	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	T|T	0.66575|0.66575	-0.5889|-0.5889	5|10	.|0.87932	.|D	.|0	-9.2824|-9.2824	7.7881|7.7881	0.29103|0.29103	0.451:0.549:0.0:0.0|0.451:0.549:0.0:0.0	.|.	.|212	.|P35052	.|GPC1_HUMAN	V|W	251|212	.|ENSP00000264039:R212W	.|ENSP00000264039:R212W	A|R	+|+	2|1	0|2	GPC1|GPC1	241050589|241050589	0.177000|0.177000	0.23109|0.23109	0.998000|0.998000	0.56505|0.56505	0.951000|0.951000	0.60555|0.60555	0.216000|0.216000	0.17585|0.17585	0.615000|0.615000	0.30124|0.30124	0.591000|0.591000	0.81541|0.81541	GCG|CGG			0.711	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257179.3		NM_002081		T	241401916	C	T	241401916	3	4	71	1	0	0	0	0	1	0	0	0	6611	759	27	1	644	1	GPC1	2	241401916	Missense_Mutation	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10	20971729	241401916	1797457	8	5093											
CHST2	9435	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr3	142840933	142840933	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactacctggtggtgcggtaCgaggacctggtgggagaccc	7	7	16	11	2	0	1	0	0	0	1	0	4	0	2	3	6	3	1	3	6	2	2	rs140050898	byFrequency	TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr3:142840933C>G	ENST00000309575.3	+	2	2659	c.1275C>G	c.(1273-1275)taC>taG	p.Y425*		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	425					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						TGGTGCGGTACGAGGACCTGG	0.582																																					p.Y425X													CHST2,NS,carcinoma,0,1	CHST2	0	1	0			c.C1275G												64	61	62					3																	142840933		2203	4300	6503	SO:0001587	stop_gained	9435	exon2			GCGGTACGAGGAC	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.1275C>G	3.37:g.142840933C>G	ENSP00000307911:p.Tyr425*		72	0	0		89	0.04	4	NM_004267	166	0.01	1	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Nonsense_Mutation	SNP	ENST00000309575.3	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	48	14.296008	0.99789	.	.	ENSG00000175040	ENST00000309575	.	.	.	4.33	3.43	0.39272	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1177	9.2714	0.37673	0.0:0.8315:0.0:0.1685	.	.	.	.	X	425	.	ENSP00000307911:Y425X	Y	+	3	2	CHST2	144323623	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.653000	0.24902	2.233000	0.73108	0.407000	0.27541	TAC			0.582	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354850.1		NM_004267		G	142840933	C	G	142840933	4	3	71	1	0	0	0	0	0	1	0	0	3406	547	19	5	1277	5	CHST2	3	142840933	Nonsense_Mutation	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10		142840933	55181497	9	5094											
FGFRL1	53834	broad.mit.edu	37	chr4	1017489	1017489	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgggggtcaagaggAccccgccagccagcagtggg	7	5	15	14	1	2	1	1	0	1	1	3	2	3	2	5	4	2	1	5	4	1	0			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr4:1017489A>C	ENST00000398484.2	+	5	993	c.413A>C	c.(412-414)gAc>gCc	p.D138A	FGFRL1_ENST00000510644.1_Missense_Mutation_p.D138A|FGFRL1_ENST00000264748.6_Missense_Mutation_p.D138A|FGFRL1_ENST00000504138.1_Missense_Mutation_p.D138A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	138					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAAGAGGACCCCGCCAGC	0.697																																					p.D138A													.	FGFRL1	77		0			c.A413C												6	8	7					4																	1017489		2156	4227	6383	SO:0001583	missense	53834	exon4			AAGAGGACCCCGC		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.413A>C	4.37:g.1017489A>C	ENSP00000381498:p.Asp138Ala		58	0.2068965517	12		72	0.28	20	NM_001004356	13	0	0	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	a	7.133	0.580375	0.13686	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000507339;ENST00000264748	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;0.08;-0.66	4.39	4.39	0.52855	.	0.765487	0.12236	N	0.487022	T	0.57330	0.2046	N	0.24115	0.695	0.44149	D	0.996949	B	0.16396	0.017	B	0.12156	0.007	T	0.49072	-0.8977	10	0.26408	T	0.33	-24.6479	12.834	0.57763	1.0:0.0:0.0:0.0	.	138	Q8N441	FGRL1_HUMAN	A	138;108;138;138;138;138	ENSP00000381498:D138A;ENSP00000425025:D138A;ENSP00000423091:D138A;ENSP00000424037:D138A;ENSP00000264748:D138A	ENSP00000264748:D138A	D	+	2	0	FGFRL1	1007489	0.247000	0.23920	0.998000	0.56505	0.806000	0.45545	0.568000	0.23623	1.620000	0.50308	0.358000	0.22013	GAC			0.697	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239195.2		NM_021923		C	1017489	A	C	1017489	3	2	71	1	0	0	0	0	1	0	0	0	5882	275	10	4	423	4	FGFRL1	4	1017489	Missense_Mutation	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10		1017489	190136787	10	5095											
PTK7	5754	mdanderson.org	37	chr6	43126631	43126631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcataaggacttggctgCgcgtaactgcctggtcagtg	7	11	14	9	2	1	0	1	0	0	0	1	1	1	1	1	3	4	3	1	3	2	3			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr6:43126631C>T	ENST00000230419.4	+	18	3019	c.2798C>T	c.(2797-2799)gCg>gTg	p.A933V	PTK7_ENST00000352931.2_Missense_Mutation_p.A877V|PTK7_ENST00000345201.2_Missense_Mutation_p.A893V|PTK7_ENST00000349241.2_Missense_Mutation_p.A803V|PTK7_ENST00000481273.1_Missense_Mutation_p.A941V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	933	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.		A -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A933V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACTTGGCTGCGCGTAACTGC	0.587																																					p.A941V													PTK7,colon,carcinoma,0,4	PTK7	0	4	1	Substitution - Missense(1)	large_intestine(1)	c.C2822T												81	69	73					6																	43126631		2203	4300	6503	SO:0001583	missense	5754	exon18			TGGCTGCGCGTAA	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2798C>T	6.37:g.43126631C>T	ENSP00000230419:p.Ala933Val		52	0	0		45	0.07	3	NM_001270398	150	0.01	1	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.571123|5.571123	0.96553|0.96553	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000473339|ENST00000489707	D;D;D;D;D;D|.	0.90069|.	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.056753|.	0.64402|.	D|.	0.000001|.	D|D	0.85141|0.85141	0.5629|0.5629	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D|.	0.71674|.	0.998;0.758;0.989;0.994;0.971;0.997|.	D;B;P;P;P;D|.	0.65874|.	0.939;0.153;0.896;0.799;0.758;0.922|.	D|D	0.86955|0.86955	0.2088|0.2088	10|5	0.87932|.	D|.	0|.	.|.	20.3465|20.3465	0.98790|0.98790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	941;259;803;893;877;933|.	E9PFZ5;F8W9X8;Q13308-3;Q13308-2;Q13308-4;Q13308|.	.;.;.;.;.;PTK7_HUMAN|.	V|C	933;259;803;877;893;941;201|228	ENSP00000230419:A933V;ENSP00000325462:A803V;ENSP00000326029:A877V;ENSP00000325992:A893V;ENSP00000418754:A941V;ENSP00000420186:A201V|.	ENSP00000230419:A933V|.	A|R	+|+	2|1	0|0	PTK7|PTK7	43234609|43234609	1.000000|1.000000	0.71417|0.71417	0.069000|0.069000	0.20011|0.20011	0.884000|0.884000	0.51177|0.51177	7.775000|7.775000	0.85489|0.85489	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCG|CGC			0.587	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040580.2				T	43126631	C	T	43126631	3	4	71	1	0	0	0	0	1	0	0	0	12786	768	27	1	2868	1	PTK7	6	43126631	Missense_Mutation	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10		43126631	127988436	11	5096											
ECT2L	345930	mdanderson.org	37	chr6	139210141	139210141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcccaacttcattgctGtgatgaagaaataagtttct	12	14	8	7	0	2	3	1	2	1	1	2	3	2	3	1	0	3	3	1	0	5	5			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr6:139210141G>T	ENST00000423192.1	+	19	2548	c.2387G>T	c.(2386-2388)tGt>tTt	p.C796F	ECT2L_ENST00000541398.1_Missense_Mutation_p.C650F|ECT2L_ENST00000367682.2_Missense_Mutation_p.C796F			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	796							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTTCATTGCTGTGATGAAGAA	0.348			"N, Splice, Mis"		ETP ALL																																p.C796F				Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	.			0			c.G2387T												98	98	98					6																	139210141		1857	4111	5968	SO:0001583	missense	345930	exon19			ATTGCTGTGATGA		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2387G>T	6.37:g.139210141G>T	ENSP00000387388:p.Cys796Phe		48	0	0		49	0.06	3	NM_001195037	0		0	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	9.187	1.025165	0.19433	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.77229	-1.08;-1.08;-1.08	4.86	0.862	0.19056	.	0.125508	0.30771	U	0.008907	T	0.45377	0.1339	M	0.68317	2.08	0.25330	N	0.989041	B;B	0.33171	0.4;0.278	B;B	0.30401	0.115;0.033	T	0.43163	-0.9408	10	0.10902	T	0.67	1.0514	4.5112	0.11912	0.0831:0.2982:0.4786:0.1401	.	650;796	F5H7S9;Q008S8	.;ECT2L_HUMAN	F	796;796;650	ENSP00000387388:C796F;ENSP00000356655:C796F;ENSP00000442307:C650F	ENSP00000356655:C796F	C	+	2	0	ECT2L	139251834	0.830000	0.29337	0.992000	0.48379	0.995000	0.86356	0.026000	0.13599	-0.059000	0.13154	0.561000	0.74099	TGT			0.348	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042441.3		NM_001077706		T	139210141	G	T	139210141	3	4	71	1	0	0	0	0	1	0	0	0	4907	1377	48	3	2457	3	ECT2L	6	139210141	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	96083510	139210141	31904926	12	5097											
SYNE1	23345	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr6	152589280	152589280	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggagactcttctgctcGgctaattcctgttctaactc	8	13	8	12	2	3	1	0	0	3	1	6	3	4	1	1	2	2	3	1	2	3	5			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr6:152589280G>C	ENST00000367255.5	-	100	19327	c.18726C>G	c.(18724-18726)gcC>gcG	p.A6242A	SYNE1_ENST00000265368.4_Silent_p.A6242A|SYNE1_ENST00000423061.1_Silent_p.A6171A|SYNE1_ENST00000356820.4_Silent_p.A766A|SYNE1_ENST00000341594.5_Silent_p.A5854A|SYNE1_ENST00000448038.1_Silent_p.A6171A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6242					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)		TCTTCTGCTCGGCTAATTCCT	0.438										HNSCC(10;0.0054)																											p.A6242A													.	.			0			c.C18726G												94	94	94					6																	152589280		2203	4300	6503	SO:0001819	synonymous_variant	23345	exon100			CTGCTCGGCTAAT	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.18726C>G	6.37:g.152589280G>C			88	0	0		111	0.05	6	NM_182961	1	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																					0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000334755.2		NM_182961		C	152589280	G	C	152589280	2	2	71	1	0	0	0	0	0	0	0	1	15468	1103	39	5		5	SYNE1	6	152589280	Silent	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	13379139	152589280	18525787	13	5098											
LRWD1	222229	mdanderson.org	37	chr7	102108606	102108606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcccaggtggagggcaGccctgtggcaggctccgatg	5	6	18	12	2	0	0	0	0	0	0	2	2	1	1	3	6	1	3	3	6	0	0			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr7:102108606G>A	ENST00000292616.5	+	6	928	c.776G>A	c.(775-777)aGc>aAc	p.S259N	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	259					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						GTGGAGGGCAGCCCTGTGGCA	0.687																																					p.S259N													.	.			0			c.G776A												43	45	44					7																	102108606		2194	4294	6488	SO:0001583	missense	222229	exon6			AGGGCAGCCCTGT	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.776G>A	7.37:g.102108606G>A	ENSP00000292616:p.Ser259Asn		28	0	0		41	0.07	3	NM_152892	57	0	0	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951349	0.34471	.	.	ENSG00000161036	ENST00000292616	T	0.61392	0.11	4.21	2.4	0.29515	.	1.199060	0.05655	N	0.585803	T	0.50871	0.1641	L	0.54323	1.7	0.09310	N	1	B	0.27498	0.18	B	0.21546	0.035	T	0.34800	-0.9814	10	0.35671	T	0.21	-11.9846	5.9808	0.19405	0.2351:0.0:0.7649:0.0	.	259	Q9UFC0	LRWD1_HUMAN	N	259	ENSP00000292616:S259N	ENSP00000292616:S259N	S	+	2	0	LRWD1	101895611	0.001000	0.12720	0.100000	0.21137	0.315000	0.28087	0.433000	0.21477	0.433000	0.26313	0.462000	0.41574	AGC			0.687	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349493.1		NM_152892		A	102108606	G	A	102108606	3	1	71	1	0	0	0	0	1	0	0	0	9063	971	34	2	798	2	LRWD1	7	102108606	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		102108606	57030057	14	5099											
NRCAM	4897	bcgsc.ca;mdanderson.org	37	chr7	107815786	107815786	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcctgcacctacatcAggtggaagaataccagcttt	10	11	8	12	0	1	1	1	0	0	1	1	2	1	2	4	2	5	2	4	2	4	4			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr7:107815786A>G	ENST00000425651.2	-	25	3167	c.3168T>C	c.(3166-3168)ccT>ccC	p.P1056P	NRCAM_ENST00000379024.4_Silent_p.P1037P|NRCAM_ENST00000379028.3_Silent_p.P1056P|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379022.4_Silent_p.P1056P|NRCAM_ENST00000413765.2_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1056					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACCTACATCAGGTGGAAGAA	0.378																																					p.P1056P													.	NRCAM	267		0			c.T3168C												84	74	77					7																	107815786		1861	4084	5945	SO:0001819	synonymous_variant	4897	exon25			TACATCAGGTGGA		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3168T>C	7.37:g.107815786A>G			56	0	0		71	0.07	5	NM_001037132	0		0	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	A	9.208	1.030235	0.19512	.	.	ENSG00000091129	ENST00000445634	.	.	.	5.54	4.39	0.52855	.	.	.	.	.	T	0.62539	0.2436	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59408	-0.7460	4	.	.	.	.	11.215	0.48821	0.9283:0.0:0.0717:0.0	.	.	.	.	P	6	.	.	L	-	2	0	NRCAM	107603022	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.481000	0.45215	0.944000	0.37579	0.533000	0.62120	CTG			0.378	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337942.2		NM_001037132		G	107815786	A	G	107815786	2	3	71	1	0	0	0	0	0	0	0	1	10661	175	7	4		4	NRCAM	7	107815786	Silent	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10	5707180	107815786	51322877	15	5100											
WASL	8976	mdanderson.org	37	chr7	123332847	123332847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcccctagcaggaggagGaggaggacctgagttgtgtg	8	9	16	8	0	1	1	0	1	1	0	2	6	2	6	3	5	1	2	3	5	1	3			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr7:123332847G>T	ENST00000223023.4	-	9	1233	c.901C>A	c.(901-903)Cct>Act	p.P301T		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	301	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.P301A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gcaggaggaggaggaggacct	0.602																																					p.P301T													WASL,bladder,carcinoma,0,1	WASL	0	1	1	Substitution - Missense(1)	urinary_tract(1)	c.C901A												46	50	49					7																	123332847		2203	4299	6502	SO:0001583	missense	8976	exon9			GAGGAGGAGGAGG	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.901C>A	7.37:g.123332847G>T	ENSP00000223023:p.Pro301Thr		42	0	0		45	0.07	3	NM_003941	56	0	0	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175607	0.57692	.	.	ENSG00000106299	ENST00000223023	D	0.92199	-2.99	5.39	5.39	0.77823	Wiscott-Aldrich syndrome, C-terminal (1);	0.164086	0.56097	D	0.000037	D	0.91456	0.7303	M	0.74467	2.265	0.80722	D	1	B	0.26635	0.155	B	0.25140	0.058	D	0.88685	0.3205	10	0.18276	T	0.48	-1.9531	19.209	0.93747	0.0:0.0:1.0:0.0	.	301	O00401	WASL_HUMAN	T	301	ENSP00000223023:P301T	ENSP00000223023:P301T	P	-	1	0	WASL	123120083	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	9.087000	0.94110	2.528000	0.85240	0.644000	0.83932	CCT			0.602	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348522.1		NM_003941		T	123332847	G	T	123332847	3	4	71	1	0	0	0	0	1	0	0	0	17280	1174	41	3	628	3	WASL	7	123332847	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	15517061	123332847	35805816	16	5101											
PRKDC	5591	mdanderson.org	37	chr8	48711905	48711905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcagccgcctgcacaGcctcagagaggtgctggaat	8	7	11	15	1	2	1	2	0	0	1	3	3	3	2	5	2	4	2	5	2	1	0			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr8:48711905G>T	ENST00000314191.2	-	73	10216	c.10160C>A	c.(10159-10161)gCt>gAt	p.A3387D	PRKDC_ENST00000338368.3_Missense_Mutation_p.A3387D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3388	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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)	CGCCTGCACAGCCTCAGAGAG	0.562								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)												.	.			0			.												90	92	91					8																	48711905		2004	4183	6187	SO:0001583	missense	5591	.			TGCACAGCCTCAG		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.10160C>A	8.37:g.48711905G>T	ENSP00000313420:p.Ala3387Asp		28	0	0		44	0.07	3	.	56	0	0	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.951466	0.92660	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.70749	-0.51;-0.51	5.8	5.8	0.92144	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.059663	0.64402	D	0.000003	D	0.85401	0.5688	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85504	0.1193	10	0.59425	D	0.04	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	3387;3388	E7EUY0;P78527	.;PRKDC_HUMAN	D	3387	ENSP00000313420:A3387D;ENSP00000345182:A3387D	ENSP00000313420:A3387D	A	-	2	0	PRKDC	48874458	1.000000	0.71417	0.170000	0.22879	0.033000	0.12548	9.050000	0.93843	2.755000	0.94549	0.655000	0.94253	GCT			0.562	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001081640		T	48711905	G	T	48711905	3	4	71	1	0	0	0	0	1	0	0	0	12541	971	34	2	2283	2	PRKDC	8	48711905	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		48711905	97652117	17	5102											
TOX	9760	broad.mit.edu	37	chr8	59728032	59728032	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggctgatctggaggggAggaggaggggacacagccat	9	4	21	7	1	1	1	0	1	1	0	1	6	1	6	1	9	1	1	1	9	0	0			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr8:59728032A>G	ENST00000361421.1	-	7	1477	c.1257T>C	c.(1255-1257)ccT>ccC	p.P419P	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	419	Poly-Pro.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCTGGAGGGGAGGAGGAGGGG	0.587																																					p.P419P	Pancreas(161;610 1969 17913 21374 22725)												.	TOX	83		0			c.T1257C												104	100	101					8																	59728032		2203	4300	6503	SO:0001819	synonymous_variant	9760	exon7			GAGGGGAGGAGGA		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1257T>C	8.37:g.59728032A>G			94	0.1914893617	18		118	0.19	23	NM_014729	19	0.05	1	Q96AV5	Silent	SNP	ENST00000361421.1	37	CCDS34897.1																																																																																					0.587	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378307.1		NM_014729		G	59728032	A	G	59728032	2	3	71	1	0	0	0	0	0	0	0	1	16401	291	11	4		4	TOX	8	59728032	Silent	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10	11016127	59728032	86635990	18	5103											
STAU2	27067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	74464275	74464275	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaatccttgctaaatatTccagttgttttgaaggttgt	9	18	8	6	0	0	2	0	2	0	0	2	2	2	2	2	1	1	4	2	1	5	9			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr8:74464275T>G	ENST00000521451.1	-	8	1218	c.842A>C	c.(841-843)gAa>gCa	p.E281A	STAU2_ENST00000522509.1_Missense_Mutation_p.E469A|STAU2_ENST00000521210.1_Missense_Mutation_p.E397A|STAU2_ENST00000524300.1_Missense_Mutation_p.E501A|STAU2_ENST00000522695.1_Missense_Mutation_p.E469A|STAU2_ENST00000519961.1_Missense_Mutation_p.E501A|STAU2_ENST00000517542.1_Missense_Mutation_p.E463A|STAU2_ENST00000355780.5_Missense_Mutation_p.E469A|STAU2_ENST00000523558.1_Missense_Mutation_p.E329A|STAU2_ENST00000521727.1_Missense_Mutation_p.E481A			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	501					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGCTAAATATTCCAGTTGTTT	0.363																																					p.E501A													.	.			0			c.A1502C												59	63	62					8																	74464275		2203	4297	6500	SO:0001583	missense	27067	exon13			AAATATTCCAGTT	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.842A>C	8.37:g.74464275T>G	ENSP00000428476:p.Glu281Ala		142	0	0		136	0.14	19	NM_001164380	19	0.21	4	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37		.	.	.	.	.	.	.	.	.	.	T	14.70	2.613167	0.46631	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000523533;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542	T;T;T;D;T;T;T;T;T;T;T	0.81908	0.41;0.41;0.41;-1.55;0.41;0.41;0.41;0.41;0.41;0.41;0.41	4.6	4.6	0.57074	.	0.048930	0.85682	D	0.000000	D	0.83175	0.5197	L	0.42245	1.32	0.80722	D	1	P;P;D;P;P;P;P;B	0.56968	0.608;0.917;0.978;0.917;0.728;0.608;0.734;0.007	B;B;P;B;B;B;B;B	0.53809	0.142;0.345;0.735;0.345;0.275;0.099;0.321;0.016	T	0.81658	-0.0833	10	0.30078	T	0.28	-12.4942	14.4487	0.67370	0.0:0.0:0.0:1.0	.	481;397;329;397;469;501;469;501	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	A	469;501;329;397;114;469;501;481;281;469;463	ENSP00000428456:E469A;ENSP00000428756:E501A;ENSP00000428741:E329A;ENSP00000429173:E397A;ENSP00000430511:E114A;ENSP00000348026:E469A;ENSP00000430907:E501A;ENSP00000429973:E481A;ENSP00000428476:E281A;ENSP00000427977:E469A;ENSP00000431111:E463A	ENSP00000344030:E329A	E	-	2	0	STAU2	74626829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.389000	0.66255	2.054000	0.61138	0.528000	0.53228	GAA			0.363	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000379006.4		NM_001164380		G	74464275	T	G	74464275	3	3	71	1	0	0	0	0	1	0	0	0	15296	1783	62	4	346	4	STAU2	8	74464275	Missense_Mutation	SNP	T	TCGA-2G-AALS-01A-12D-A42Y-10	14736243	74464275	71899747	19	5104											
PLEC	5339	mdanderson.org	37	chr8	144993788	144993788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggcgctggttccgcacggGgtccaccaggaagccagtgg	7	5	16	13	3	0	0	0	0	0	0	2	1	2	1	4	6	1	3	4	6	1	1			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr8:144993788G>T	ENST00000322810.4	-	32	10781	c.10612C>A	c.(10612-10614)Ccc>Acc	p.P3538T	PLEC_ENST00000354958.2_Missense_Mutation_p.P3379T|PLEC_ENST00000345136.3_Missense_Mutation_p.P3401T|PLEC_ENST00000354589.3_Missense_Mutation_p.P3401T|PLEC_ENST00000527096.1_Missense_Mutation_p.P3424T|PLEC_ENST00000356346.3_Missense_Mutation_p.P3387T|PLEC_ENST00000398774.2_Missense_Mutation_p.P3369T|PLEC_ENST00000357649.2_Missense_Mutation_p.P3405T|PLEC_ENST00000436759.2_Missense_Mutation_p.P3428T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3538	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						TTCCGCACGGGGTCCACCAGG	0.692																																					p.P3538T													.	.			0			c.C10612A												11	14	13					8																	144993788		1940	4121	6061	SO:0001583	missense	5339	exon32			GCACGGGGTCCAC	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.10612C>A	8.37:g.144993788G>T	ENSP00000323856:p.Pro3538Thr		27	0	0		25	0.12	3	NM_201380	66	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	9.426	1.084320	0.20309	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	4.46	4.46	0.54185	.	0.000000	0.64402	U	0.000006	D	0.94765	0.8310	M	0.91249	3.19	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.96002	0.8994	10	0.87932	D	0	.	16.9177	0.86155	0.0:0.0:1.0:0.0	.	3428;3387;3379;3538;3369;3401;3405;3401	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	3401;3405;3401;3369;3538;3379;3387;3428;3424	ENSP00000344848:P3401T;ENSP00000350277:P3405T;ENSP00000346602:P3401T;ENSP00000381756:P3369T;ENSP00000323856:P3538T;ENSP00000347044:P3379T;ENSP00000348702:P3387T;ENSP00000388180:P3428T;ENSP00000434583:P3424T	ENSP00000323856:P3538T	P	-	1	0	PLEC	145065776	1.000000	0.71417	0.996000	0.52242	0.207000	0.24258	5.394000	0.66285	2.304000	0.77564	0.448000	0.29417	CCC			0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		T	144993788	G	T	144993788	3	4	71	1	0	0	0	0	1	0	0	0	12069	1232	43	3	3446	3	PLEC	8	144993788	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	70529513	144993788	1370234	20	5105											
NOTCH1	4851	mdanderson.org	37	chr9	139405668	139405668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggattgcctgcactccccGccgtttctgcaggggctggg	3	10	14	14	3	1	0	0	0	1	0	3	1	2	1	4	4	3	4	4	4	0	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr9:139405668G>A	ENST00000277541.6	-	16	2598	c.2523C>T	c.(2521-2523)ggC>ggT	p.G841G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	841	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCACTCCCCGCCGTTTCTGC	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.G841G				Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	.			0			c.C2523T												29	37	34					9																	139405668		2060	4186	6246	SO:0001819	synonymous_variant	4851	exon16			CTCCCCGCCGTTT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2523C>T	9.37:g.139405668G>A			55	0	0		52	0.06	3	NM_017617	16	0	0	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																					0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055087.1		NM_017617		A	139405668	G	A	139405668	2	1	71	1	0	0	0	0	0	0	0	1	10564	1074	38	1		1	NOTCH1	9	139405668	Silent	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		139405668	1807763	21	5106											
ENTPD2	954	mdanderson.org	37	chr9	139943414	139943414	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctggaagatcacgccGccgaaggcgcgctcgtcgaa	8	8	12	13	7	3	1	1	0	2	1	5	4	3	2	2	2	0	1	2	2	3	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr9:139943414G>T	ENST00000355097.2	-	8	1310	c.1263C>A	c.(1261-1263)ggC>ggA	p.G421G	ENTPD2_ENST00000460614.1_5'UTR|ENTPD2_ENST00000312665.5_Silent_p.G398G|NPDC1_ENST00000488145.1_5'Flank|NPDC1_ENST00000371601.4_5'Flank	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	421					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGATCACGCCGCCGAAGGCGC	0.741																																					p.G421G													.	.			0			c.C1263A												2	2	2					9																	139943414		1382	2962	4344	SO:0001819	synonymous_variant	954	exon8			CACGCCGCCGAAG	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1263C>A	9.37:g.139943414G>T			12	0	0		13	0.23	3	NM_203468	0		0	O15464|Q5SPY6|Q5SPY7	Silent	SNP	ENST00000355097.2	37	CCDS7026.1																																																																																					0.741	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055169.1		NM_203468		T	139943414	G	T	139943414	2	4	71	1	0	0	0	0	0	0	0	1	5146	1074	38	1		1	ENTPD2	9	139943414	Silent	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	537746	139943414	1270017	22	5107											
C10orf114	399726	mdanderson.org	37	chr10	21784579	21784579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatccgcggaagaagtcctGgatgagaggtagggtgaagg	11	6	18	6	2	0	3	0	2	0	2	2	6	2	5	2	5	0	2	2	5	4	1			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr10:21784579G>T	ENST00000377113.5	-	2	808	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	121																	AAGAAGTCCTGGATGAGAGGT	0.582											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q121K													.	.			0			c.C361A												83	98	93					10																	21784579		2203	4300	6503	SO:0001583	missense	399726	exon2			AGTCCTGGATGAG	BC040880	CCDS31163.1	10p12.31	2013-07-17	2013-07-17	2013-07-17	ENSG00000204682	ENSG00000204682			31448	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 114"	C10orf114		21804547	Standard	NM_001010911		Approved	bA418C1.3	uc001iqn.4	Q5T4H9	OTTHUMG00000017795	ENST00000377113.5:c.361C>A	10.37:g.21784579G>T	ENSP00000366317:p.Gln121Lys		47	0	0	751	49	0.06	3	NM_001010911	4	0	0	A1L4M3	Missense_Mutation	SNP	ENST00000377113.5	37	CCDS31163.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366371	0.24771	.	.	ENSG00000204682	ENST00000377113	T	0.50548	0.74	3.99	-1.5	0.08691	.	.	.	.	.	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.17167	-1.0378	9	0.87932	D	0	1.0065	3.5318	0.07779	0.4202:0.0:0.405:0.1748	.	121	Q5T4H9	CJ114_HUMAN	K	121	ENSP00000366317:Q121K	ENSP00000366317:Q121K	Q	-	1	0	C10orf114	21824585	0.007000	0.16637	0.023000	0.16930	0.020000	0.10135	0.207000	0.17395	-0.148000	0.11234	0.305000	0.20034	CAG			0.582	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047130.2		NM_001010911		T	21784579	G	T	21784579	3	4	71	1	0	0	0	0	1	0	0	0	1587	1357	47	3	53	3	C10orf114	10	21784579	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		21784579	113750168	23	5108											
ZRANB1	54764	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	126673488	126673488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtagaaaaatggcttgAccgctaccgacagatccggc	12	7	12	10	3	0	3	0	1	0	2	1	5	1	3	3	3	1	3	3	3	4	3			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr10:126673488A>G	ENST00000359653.4	+	9	2425	c.2054A>G	c.(2053-2055)gAc>gGc	p.D685G		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	685					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAATGGCTTGACCGCTACCGA	0.507																																					p.D685G													.	.			0			c.A2054G												58	52	54					10																	126673488		2203	4300	6503	SO:0001583	missense	54764	exon9			GGCTTGACCGCTA	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.2054A>G	10.37:g.126673488A>G	ENSP00000352676:p.Asp685Gly		84	0	0		99	0.05	5	NM_017580	55	0	0	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590284	0.86851	.	.	ENSG00000019995	ENST00000359653	T	0.20463	2.07	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.63843	1.955	0.80722	D	1	D	0.53462	0.96	P	0.46796	0.527	T	0.08269	-1.0730	10	0.66056	D	0.02	-25.1977	15.3459	0.74337	1.0:0.0:0.0:0.0	.	685	Q9UGI0	ZRAN1_HUMAN	G	685	ENSP00000352676:D685G	ENSP00000352676:D685G	D	+	2	0	ZRANB1	126663478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.757000	0.91657	2.206000	0.71126	0.528000	0.53228	GAC			0.507	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050898.1		NM_017580		G	126673488	A	G	126673488	3	3	71	1	0	0	0	0	1	0	0	0	18245	275	10	4	2088	4	ZRANB1	10	126673488	Missense_Mutation	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10	104888909	126673488	8861259	24	5109											
DNHD1	144132	mdanderson.org	37	chr11	6592605	6592605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggctcggtctccagtcaGctccagtataaacgtctgga	9	9	11	12	3	3	0	1	0	2	0	6	2	4	1	2	3	2	3	2	3	3	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr11:6592605G>T	ENST00000527990.2	+	40	13863	c.13863G>T	c.(13861-13863)caG>caT	p.Q4621H	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q4621H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4621					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)		TCTCCAGTCAGCTCCAGTATA	0.607																																					p.Q4621H													.	.			0			c.G13863T												27	31	29					11																	6592605		2013	4171	6184	SO:0001583	missense	144132	exon42			CAGTCAGCTCCAG	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.13863G>T	11.37:g.6592605G>T	ENSP00000436180:p.Gln4621His		41	0	0		36	0.08	3	NM_144666	7	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096339	0.20552	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08984	3.03;3.03	3.47	0.108	0.14548	Dynein heavy chain (1);	1.580870	0.03897	N	0.279685	T	0.07098	0.0180	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.40232	-0.9574	10	0.44086	T	0.13	5.4223	1.0449	0.01568	0.142:0.2022:0.3781:0.2777	.	3709;674;4621	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	H	4621;4621;889	ENSP00000254579:Q4621H;ENSP00000436180:Q4621H	ENSP00000254579:Q4621H	Q	+	3	2	DNHD1	6549181	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.411000	0.07142	0.009000	0.14813	0.544000	0.68410	CAG			0.607	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384673.2		NM_144666		T	6592605	G	T	6592605	3	4	71	1	0	0	0	0	1	0	0	0	4673	962	34	2	14030	2	DNHD1	11	6592605	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		6592605	128413911	25	5110											
C11orf58	10944	mdanderson.org	37	chr11	16760382	16760382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgttcagcctccccagaCgacgatgtaaataataatgg	14	8	9	10	3	1	1	1	0	0	1	2	3	2	1	3	1	2	2	3	1	5	4			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr11:16760382C>T	ENST00000228136.4	+	1	435	c.57C>T	c.(55-57)gaC>gaT	p.D19D	C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_Silent_p.D19D			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	19										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						CCTCCCCAGACGACGATGTAA	0.602																																					p.D19D													.	.			0			c.C57T												49	50	50					11																	16760382		2200	4294	6494	SO:0001819	synonymous_variant	10944	exon1			CCCAGACGACGAT	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.57C>T	11.37:g.16760382C>T			44	0	0		39	0.08	3	NM_014267	271	0	0	B2RD28	Silent	SNP	ENST00000228136.4	37	CCDS7822.1																																																																																					0.602	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387023.2		NM_014267		T	16760382	C	T	16760382	2	4	71	1	0	0	0	0	0	0	0	1	1653	535	19	1		1	C11orf58	11	16760382	Silent	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10	10167777	16760382	118246134	26	5111											
ABCC8	6833	mdanderson.org	37	chr11	17450161	17450161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggtgtgggctcatgggggGcacactgctcctcacggatc	6	8	16	11	1	2	0	2	0	0	0	4	2	3	1	1	6	1	3	1	6	0	0	rs148709148	byFrequency	TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr11:17450161G>A	ENST00000389817.3	-	13	1942	c.1874C>T	c.(1873-1875)gCc>gTc	p.A625V	ABCC8_ENST00000302539.4_Missense_Mutation_p.A625V|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	625					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)	CTCATGGGGGGCACACTGCTC	0.642													G|||	2	0.000399361	0.0015	0	5008	,	,		19621	0		0	False		,,,				2504	0				p.A625V													.	.			0			c.C1874T							G	VAL/ALA	11,4389	17.9+/-39.9	0,11,2189	80	76	77		1874	4.3	1	11	dbSNP_134	77	0,8586		0,0,4293	yes	missense	ABCC8	NM_000352.3	64	0,11,6482	AA,AG,GG		0.0,0.25,0.0847	benign	625/1582	17450161	11,12975	2200	4293	6493	SO:0001583	missense	6833	exon13			TGGGGGGCACACT	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.1874C>T	11.37:g.17450161G>A	ENSP00000374467:p.Ala625Val		41	0	0		43	0.07	3	NM_000352	1	0	0	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.540	0.872965	0.17322	0.0025	0.0	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91577	-2.87;-2.87	5.28	4.31	0.51392	ABC transporter, transmembrane domain, type 1 (1);	0.461271	0.21898	N	0.067487	T	0.78704	0.4325	N	0.08118	0	0.33753	D	0.620844	B	0.09022	0.002	B	0.12156	0.007	T	0.77135	-0.2699	10	0.33940	T	0.23	.	8.4482	0.32856	0.0:0.2794:0.5664:0.1542	.	625	Q09428	ABCC8_HUMAN	V	625;625;629	ENSP00000374467:A625V;ENSP00000303960:A625V	ENSP00000303960:A625V	A	-	2	0	ABCC8	17406737	0.465000	0.25815	0.955000	0.39395	0.092000	0.18411	0.664000	0.25068	2.490000	0.84030	0.561000	0.74099	GCC	0.001		0.642	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000389093.1		NM_000352		A	17450161	G	A	17450161	3	1	71	1	0	0	0	0	1	0	0	0	58	1203	42	2	2979	2	ABCC8	11	17450161	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	689779	17450161	117556355	27	5112											
ZDHHC13	54503	mdanderson.org	37	chr11	19174229	19174229	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggctgcagaaatgcGaggtattttcatatggggtc	9	11	16	5	1	1	1	1	0	0	1	2	3	1	2	0	6	2	3	0	6	3	4			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr11:19174229G>T	ENST00000446113.2	+	8	992	c.871G>T	c.(871-873)Gag>Tag	p.E291*	ZDHHC13_ENST00000399351.3_Nonsense_Mutation_p.E161*|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	291					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GCAGAAATGCGAGGTATTTTC	0.368																																					p.E291X													.	.			0			c.G871T												75	73	74					11																	19174229		1800	4062	5862	SO:0001587	stop_gained	54503	exon8			AAATGCGAGGTAT	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.871G>T	11.37:g.19174229G>T	ENSP00000400113:p.Glu291*		71	0	0		46	0.07	3	NM_019028	19	0	0	Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Nonsense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	G	38	6.881632	0.97908	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	.	.	.	5.43	5.43	0.79202	.	0.372047	0.31113	N	0.008223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-1.9485	18.8981	0.92432	0.0:0.0:1.0:0.0	.	.	.	.	X	291;161	.	ENSP00000382288:E161X	E	+	1	0	ZDHHC13	19130805	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.970000	0.63742	2.571000	0.86741	0.644000	0.83932	GAG			0.368	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387821.1		NM_019028		T	19174229	G	T	19174229	4	4	71	1	0	0	0	0	0	1	0	0	17626	1059	37	1	901	1	ZDHHC13	11	19174229	Nonsense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	1724068	19174229	115832287	28	5113											
FOLH1	2346	bcgsc.ca	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				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)	GCCTATAAGCATATTCTGAAA	0.343																																					p.Y277Y													.	FOLH1	141		0			c.T831C												61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346	exon7			ATAAGCATATTCT	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.831T>C	11.37:g.49204790A>G			131	0.0076335878	1		173	0.05	9	NM_004476	0		0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																					0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390896.1		NM_004476		G	49204790	A	G	49204790	2	3	71	1	0	0	0	0	0	0	0	1	5992	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10	30030561	49204790	85801726	29	5114											
KLC2	64837	broad.mit.edu;ucsc.edu	37	chr11	66033608	66033608	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcggttcctttgggaaactCcgggatgccctgaggcgcag	7	8	15	11	3	0	1	0	1	0	0	2	3	2	3	3	4	3	2	3	4	1	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr11:66033608C>A	ENST00000417856.1	+	14	1890	c.1647C>A	c.(1645-1647)ctC>ctA	p.L549L	KLC2_ENST00000421552.1_Silent_p.L472L|KLC2_ENST00000394067.2_Silent_p.L549L|KLC2_ENST00000394066.2_Silent_p.L472L|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Silent_p.L410L|KLC2_ENST00000316924.5_Silent_p.L549L|RAB1B_ENST00000527397.1_5'Flank|RP11-867G23.1_ENST00000530805.1_RNA|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	549					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						TTGGGAAACTCCGGGATGCCC	0.672																																					p.L549L													.	KLC2	50		0			c.C1647A												36	39	38					11																	66033608		2200	4295	6495	SO:0001819	synonymous_variant	64837	exon14			GAAACTCCGGGAT	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.1647C>A	11.37:g.66033608C>A			109	0.0275229358	3		120	0.16	19	NM_022822	43	0.3	13	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	ENST00000417856.1	37	CCDS8130.1																																																																																					0.672	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258200.1		NM_022822		A	66033608	C	A	66033608	2	1	71	1	0	0	0	0	0	0	0	1	8349	842	30	3		3	KLC2	11	66033608	Silent	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10	16828818	66033608	68972908	30	5115											
ACY3	91703	mdanderson.org	37	chr11	67414472	67414472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcgtgcccccagtcacagCcacgcgacgcaggggctccc	7	4	12	18	4	1	0	1	0	0	0	2	1	2	0	4	2	3	2	4	2	0	0			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr11:67414472C>T	ENST00000255082.3	-	3	213	c.43G>A	c.(43-45)Gct>Act	p.A15T	ACY3_ENST00000529256.1_Intron	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	15	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CCAGTCACAGCCACGCGACGC	0.682																																					p.A15T	GBM(56;346 1011 27014 29495 46841)												.	.			0			c.G43A												10	10	10					11																	67414472		2158	4244	6402	SO:0001583	missense	91703	exon3			TCACAGCCACGCG	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.43G>A	11.37:g.67414472C>T	ENSP00000255082:p.Ala15Thr		48	0	0		42	0.07	3	NM_080658	0		0		Missense_Mutation	SNP	ENST00000255082.3	37	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069513	0.55539	.	.	ENSG00000132744	ENST00000255082	D	0.97906	-4.6	4.03	4.03	0.46877	.	0.066157	0.64402	D	0.000017	D	0.98570	0.9522	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99379	1.0922	10	0.62326	D	0.03	.	15.3087	0.74014	0.0:1.0:0.0:0.0	.	15	Q96HD9	ACY3_HUMAN	T	15	ENSP00000255082:A15T	ENSP00000255082:A15T	A	-	1	0	ACY3	67171048	1.000000	0.71417	0.891000	0.34965	0.115000	0.19883	5.290000	0.65661	1.971000	0.57363	0.462000	0.41574	GCT			0.682	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394002.1		NM_080658		T	67414472	C	T	67414472	3	4	71	1	0	0	0	0	1	0	0	0	227	739	26	2	940	2	ACY3	11	67414472	Missense_Mutation	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10	1380864	67414472	67592044	31	5116											
PIK3C2G	5288	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	18573943	18573943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgaatgatgaactacTggaatatctcccacagctag	12	11	7	11	0	2	3	0	3	2	0	3	4	2	4	2	1	3	1	2	1	6	4			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr12:18573943T>C	ENST00000266497.5	+	15	2299	c.2261T>C	c.(2260-2262)cTg>cCg	p.L754P	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.L795P|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.L754P			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	754	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)				GATGAACTACTGGAATATCTC	0.353																																					p.L754P													.	.			0			c.T2261C												116	110	112					12																	18573943		1823	4082	5905	SO:0001583	missense	5288	exon16			AACTACTGGAATA	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.2261T>C	12.37:g.18573943T>C	ENSP00000266497:p.Leu754Pro		89	0	0		127	0.09	12	NM_004570	0		0	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.363413	0.61513	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.68765	-0.35;-0.35;-0.35	4.26	4.26	0.50523	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.216632	0.31721	N	0.007162	T	0.80628	0.4659	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77004	0.989;0.981;0.989	T	0.82476	-0.0438	10	0.56958	D	0.05	-6.7533	11.9957	0.53201	0.0:0.0:0.0:1.0	.	794;795;754	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	P	754;754;795	ENSP00000404845:L754P;ENSP00000266497:L754P;ENSP00000445381:L795P	ENSP00000266497:L754P	L	+	2	0	PIK3C2G	18465210	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.937000	0.56575	2.147000	0.66899	0.455000	0.32223	CTG			0.353	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401316.1		NM_004570		C	18573943	T	C	18573943	3	2	71	1	0	0	0	0	1	0	0	0	11928	1580	55	4	2319	4	PIK3C2G	12	18573943	Missense_Mutation	SNP	T	TCGA-2G-AALS-01A-12D-A42Y-10		18573943	115277952	32	5117											
SP1	6667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53776737	53776737	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactactaccaccagcaacAtgggaattatgaactttact	14	11	5	11	0	0	1	0	1	0	0	0	2	0	2	2	1	7	1	2	1	8	6			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr12:53776737A>C	ENST00000327443.4	+	3	1104	c.1006A>C	c.(1006-1008)Atg>Ctg	p.M336L	SP1_ENST00000426431.2_Missense_Mutation_p.M329L	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	336	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				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)		CACCAGCAACATGGGAATTAT	0.493																																					p.M336L													.	.			0			c.A1006C												135	126	129					12																	53776737		2203	4300	6503	SO:0001583	missense	6667	exon3			AGCAACATGGGAA	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.1006A>C	12.37:g.53776737A>C	ENSP00000329357:p.Met336Leu		106	0	0		132	0.13	17	NM_138473	11	0.09	1	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	1.971	-0.436483	0.04636	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.06371	3.31;3.31	4.25	4.25	0.50352	.	0.079472	0.51477	D	0.000083	T	0.03608	0.0103	N	0.22421	0.69	0.27164	N	0.96108	B	0.02656	0.0	B	0.01281	0.0	T	0.40117	-0.9580	10	0.15499	T	0.54	.	3.7648	0.08619	0.7095:0.0:0.1008:0.1897	.	336	P08047	SP1_HUMAN	L	336;329	ENSP00000329357:M336L;ENSP00000404263:M329L	ENSP00000329357:M336L	M	+	1	0	SP1	52063004	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.444000	0.35068	1.934000	0.56057	0.377000	0.23210	ATG			0.493	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407044.1				C	53776737	A	C	53776737	3	2	71	1	0	0	0	0	1	0	0	0	14982	217	8	4	1016	4	SP1	12	53776737	Missense_Mutation	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10	35202794	53776737	80075158	33	5118											
TIMELESS	8914	mdanderson.org	37	chr12	56814371	56814371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgcccagaggcagggggCcgaacccctagcttgcgcaa	9	4	13	15	2	0	1	0	0	0	1	0	2	0	1	5	3	4	3	5	3	3	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr12:56814371C>T	ENST00000553532.1	-	26	3360	c.3210G>A	c.(3208-3210)cgG>cgA	p.R1070R	TIMELESS_ENST00000229201.4_Silent_p.R1069R|TIMELESS_ENST00000554616.1_Silent_p.R567R					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGGCAGGGGGCCGAACCCCTA	0.527																																					p.R1070R													.	.			0			c.G3210A												111	96	101					12																	56814371		2203	4300	6503	SO:0001819	synonymous_variant	8914	exon26			AGGGGGCCGAACC	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3210G>A	12.37:g.56814371C>T			52	0	0		73	0.05	4	NM_003920	68	0	0		Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																					0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000409771.1		NM_003920		T	56814371	C	T	56814371	2	4	71	1	0	0	0	0	0	0	0	1	15927	726	26	2		2	TIMELESS	12	56814371	Silent	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10	3037634	56814371	77037524	34	5119											
TIMELESS	8914	hgsc.bcm.edu;broad.mit.edu	37	chr12	56817448	56817448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcctcctcctcctcCtcttcttcttcctctgcccc	0	17	1	23	0	5	0	0	0	5	0	12	0	12	0	9	0	1	0	9	0	0	4			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr12:56817448C>T	ENST00000553532.1	-	17	2160	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	TIMELESS_ENST00000229201.4_Silent_p.E669E|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.E670E(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						cctcctcctcctcttcttctt	0.527																																					p.E670E													TIMELESS,NS,carcinoma,0,1	TIMELESS	0	1	1	Substitution - coding silent(1)	kidney(1)	c.G2010A												51	49	50					12																	56817448		2203	4300	6503	SO:0001819	synonymous_variant	8914	exon17			CTCCTCCTCTTCT	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2010G>A	12.37:g.56817448C>T			45	0.0222222222	1		90	0.04	4	NM_003920	40	0	0		Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																					0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000409771.1		NM_003920		T	56817448	C	T	56817448	2	4	71	1	0	0	0	0	0	0	0	1	15927	680	24	3		3	TIMELESS	12	56817448	Silent	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10	3077	56817448	77034447	35	5120											
TCTN1	79600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	111052124	111052124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagccctggccaccttcgGaactttcccgtcgaccaggc	6	7	11	17	3	0	0	0	0	0	0	3	2	1	1	5	4	2	1	5	4	1	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr12:111052124G>A	ENST00000551590.1	+	1	293	c.137G>A	c.(136-138)gGa>gAa	p.G46E	TCTN1_ENST00000397659.4_Missense_Mutation_p.G46E|TCTN1_ENST00000397655.3_Missense_Mutation_p.G46E|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000471804.2_Missense_Mutation_p.G46E|TCTN1_ENST00000550703.2_Missense_Mutation_p.G46E			Q2MV58	TECT1_HUMAN	tectonic family member 1	46					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GCCACCTTCGGAACTTTCCCG	0.716																																					p.G46E													.	.			0			c.G137A												9	12	11					12																	111052124		1898	4089	5987	SO:0001583	missense	79600	exon1			CCTTCGGAACTTT	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"Tectonic proteins"	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.137G>A	12.37:g.111052124G>A	ENSP00000448735:p.Gly46Glu		85	0	0		129	0.12	16	NM_024549	15	0.2	3	A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017639	0.35606	.	.	ENSG00000204852	ENST00000551590;ENST00000397655;ENST00000548095;ENST00000397659	T;T;T	0.75477	-0.94;-0.94;-0.94	5.28	3.42	0.39159	.	4.105310	0.01985	U	0.045110	T	0.57519	0.2059	N	0.14661	0.345	0.24342	N	0.994957	B;B;B;B	0.22909	0.011;0.025;0.077;0.043	B;B;B;B	0.19391	0.006;0.008;0.025;0.017	T	0.50259	-0.8849	10	0.02654	T	1	-0.035	8.9712	0.35908	0.1769:0.0:0.8231:0.0	.	46;46;46;46	B4DIB9;Q2MV58;Q2MV58-3;Q2MV58-2	.;TECT1_HUMAN;.;.	E	46	ENSP00000448735:G46E;ENSP00000380775:G46E;ENSP00000380779:G46E	ENSP00000380775:G46E	G	+	2	0	TCTN1	109536507	0.002000	0.14202	0.001000	0.08648	0.035000	0.12851	0.958000	0.29227	0.705000	0.31890	0.561000	0.74099	GGA			0.716	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000316016.2		NM_024549		A	111052124	G	A	111052124	3	1	71	1	0	0	0	0	1	0	0	0	15745	1174	41	3	139	3	TCTN1	12	111052124	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	54234676	111052124	22799771	36	5121											
P2RX2	22953	mdanderson.org	37	chr12	133195575	133195575	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctgctctacttcgtgtGgtgcgcggggcgcggggtgc	2	10	17	12	5	1	0	0	0	1	0	3	0	2	0	1	5	4	1	1	5	1	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr12:133195575G>T	ENST00000389110.3	+	1	210	c.173G>T	c.(172-174)tGg>tTg	p.W58L	P2RX2_ENST00000350048.5_Splice_Site_p.W58L|P2RX2_ENST00000348800.5_Splice_Site_p.W58L|P2RX2_ENST00000343948.4_Splice_Site_p.W58L|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000449132.2_Splice_Site_p.W58L	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	58					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TACTTCGTGTGGTgcgcgggg	0.746																																					p.W58L													.	.			0			c.G173T												14	16	15					12																	133195575		2148	4215	6363	SO:0001630	splice_region_variant	22953	exon1			TCGTGTGGTGCGC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.173+1G>T	12.37:g.133195575G>T			39	0	0		29	0.1	3	NM_170683	0		0	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	CCDS31931.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.2|26.2|26.2	4.719111|4.719111|4.719111	0.89205|0.89205|0.89205	.|.|.	.|.|.	ENSG00000187848|ENSG00000187848|ENSG00000187848	ENST00000542301|ENST00000389110;ENST00000449132;ENST00000343948;ENST00000350048;ENST00000348800|ENST00000536121	.|T;T;T;T;T|.	.|0.03860|.	.|3.78;3.78;3.78;3.78;3.78|.	4.11|4.11|4.11	4.11|4.11|4.11	0.48088|0.48088|0.48088	.|.|.	.|0.069579|.	.|0.64402|.	.|D|.	.|0.000007|.	T|T|.	0.58075|0.58075|.	0.2097|0.2097|.	L|L|L	0.38838|0.38838|0.38838	1.175|1.175|1.175	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;P;P;D|.	.|0.89917|.	.|0.999;1.0;1.0;0.95;0.855;0.999|.	.|D;D;D;P;P;D|.	.|0.87578|.	.|0.977;0.988;0.998;0.56;0.609;0.962|.	T|T|.	0.56147|0.56147|.	-0.8027|-0.8027|.	5|10|.	.|0.35671|.	.|T|.	.|0.21|.	-11.8331|-11.8331|-11.8331	15.9135|15.9135|15.9135	0.79491|0.79491|0.79491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|58;58;58;58;58;58|.	.|Q32MC3;Q9UBL9-7;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2|.	.|.;.;.;.;P2RX2_HUMAN;.|.	W|L|L	57|58|50	.|ENSP00000373762:W58L;ENSP00000405531:W58L;ENSP00000343339:W58L;ENSP00000343904:W58L;ENSP00000345095:W58L|.	.|ENSP00000343339:W58L|.	G|W|X	+|+|+	1|2|2	0|0|2	P2RX2|P2RX2|P2RX2	131705648|131705648|131705648	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.739000|0.739000|0.739000	0.42172|0.42172|0.42172	6.453000|6.453000|6.453000	0.73488|0.73488|0.73488	1.827000|1.827000|1.827000	0.53221|0.53221|0.53221	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	GGG|TGG|TGA			0.746	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397542.1			Missense_Mutation	T	133195575	G	T	133195575	5	4	71	1	0	0	0	0	0	0	1	0	11357	1362	47	3	175	3	P2RX2	12	133195575	Splice_Site	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	22143451	133195575	656320	37	5122											
MYCBP2	23077	mdanderson.org	37	chr13	77900715	77900715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccggcctgacagcagcaGctggtagtgaccccgggagt	7	5	16	13	2	0	2	0	2	0	0	0	3	0	3	4	4	3	4	4	4	1	1			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr13:77900715G>T	ENST00000544440.2	-	1	99	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	MYCBP2_ENST00000407578.2_Missense_Mutation_p.L66M|MYCBP2_ENST00000360084.5_De_novo_Start_InFrame|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L28M					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)		GACAGCAGCAGCTGGTAGTGA	0.731																																					p.L66M													.	.			0			c.C196A												12	16	14					13																	77900715		2196	4291	6487	SO:0001583	missense	23077	exon1			GCAGCAGCTGGTA	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.82C>A	13.37:g.77900715G>T	ENSP00000444596:p.Leu28Met		43	0	0		35	0.09	3	NM_015057	0		0		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	25.2	4.611618	0.87258	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34275	1.39;1.37;1.39	3.94	3.94	0.45596	.	0.000000	0.53938	D	0.000054	T	0.48114	0.1482	L	0.36672	1.1	0.47698	D	0.99949	D	0.58970	0.984	D	0.70487	0.969	T	0.46498	-0.9187	10	0.49607	T	0.09	.	14.286	0.66247	0.0:0.0:1.0:0.0	.	28	O75592	MYCB2_HUMAN	M	28;66;28	ENSP00000349892:L28M;ENSP00000384288:L66M;ENSP00000444596:L28M	ENSP00000349892:L28M	L	-	1	2	MYCBP2	76798716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.496000	0.66918	2.189000	0.69895	0.655000	0.94253	CTG			0.731	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000045326.1		NM_015057		T	77900715	G	T	77900715	3	4	71	1	0	0	0	0	1	0	0	0	10034	962	34	2	14172	2	MYCBP2	13	77900715	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		77900715	37269163	38	5123											
PCCA	5095	mdanderson.org	37	chr13	100741384	100741384	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggggacaacaatggcggggTtctgggtcgggacagcaccg	8	5	18	10	4	1	0	0	0	1	0	2	2	1	2	1	7	2	2	1	7	2	1			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr13:100741384T>G	ENST00000376285.1	+	1	48	c.10T>G	c.(10-12)Ttc>Gtc	p.F4V	PCCA_ENST00000376279.3_Missense_Mutation_p.F4V|PCCA_ENST00000376286.4_Missense_Mutation_p.F4V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	4					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)	AATGGCGGGGTTCTGGGTCGG	0.706																																					p.F4V													.	.			0			c.T10G												9	10	10					13																	100741384		2135	4170	6305	SO:0001583	missense	5095	exon1			GCGGGGTTCTGGG	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.10T>G	13.37:g.100741384T>G	ENSP00000365462:p.Phe4Val		79	0.1012658228	8		86	0.22	19	NM_001178004	2	0	0	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	T	8.623	0.891969	0.17613	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.96802	-4.13;-4.05;-4.08	4.76	-0.195	0.13236	.	1.005770	0.08009	N	0.990109	D	0.88032	0.6328	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.0;0.002	T	0.78086	-0.2341	10	0.46703	T	0.11	-12.0946	1.3343	0.02142	0.1499:0.4433:0.1459:0.2609	.	4;4;4	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	V	4	ENSP00000365463:F4V;ENSP00000365456:F4V;ENSP00000365462:F4V	ENSP00000365456:F4V	F	+	1	0	PCCA	99539385	0.003000	0.15002	0.105000	0.21289	0.040000	0.13550	0.082000	0.14847	0.004000	0.14682	-0.252000	0.11476	TTC			0.706	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045627.2				G	100741384	T	G	100741384	3	3	71	1	0	0	0	0	1	0	0	0	11521	1725	60	4	12	4	PCCA	13	100741384	Missense_Mutation	SNP	T	TCGA-2G-AALS-01A-12D-A42Y-10	22840669	100741384	14428494	39	5124											
EFS	10278	broad.mit.edu	37	chr14	23828820	23828820	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggggcctgtgtgggggTggggggcttctggccagaag	4	7	22	8	1	1	1	0	0	1	1	1	1	1	1	3	8	1	1	3	8	1	1			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr14:23828820T>G	ENST00000216733.3	-	4	1474	c.867A>C	c.(865-867)ccA>ccC	p.P289P	EFS_ENST00000351354.3_Silent_p.P196P|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Silent_p.P120P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	289	Pro-rich.				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)		TGTGTGGGGGTGGGGGGCTTC	0.726																																					p.P289P													.	EFS	37		0			c.A867C												7	10	9					14																	23828820		1935	4040	5975	SO:0001819	synonymous_variant	0	exon4			TGGGGGTGGGGGG	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.867A>C	14.37:g.23828820T>G			20	0.3	6		38	0.18	7	NM_005864	6	0.17	1	B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	CCDS9595.1																																																																																					0.726	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071770.2				G	23828820	T	G	23828820	2	3	71	1	0	0	0	0	0	0	0	1	4964	1683	59	4		4	EFS	14	23828820	Silent	SNP	T	TCGA-2G-AALS-01A-12D-A42Y-10		23828820	83520720	40	5125											
MYH7	4625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23893198	23893198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccttttgagctctgagCactcatcttccagcttgcgc	5	14	8	14	1	3	2	1	2	2	0	5	2	5	2	2	0	4	3	2	0	0	4			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr14:23893198C>T	ENST00000355349.3	-	23	3002	c.2840G>A	c.(2839-2841)tGc>tAc	p.C947Y		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	947					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)		GAGCTCTGAGCACTCATCTTC	0.532																																					p.C947Y													.	.			0			c.G2840A												234	200	211					14																	23893198		2203	4300	6503	SO:0001583	missense	4625	exon23			TCTGAGCACTCAT	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.2840G>A	14.37:g.23893198C>T	ENSP00000347507:p.Cys947Tyr		101	0	0		81	0.15	12	NM_000257	0		0	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577085	0.86645	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.91011	-2.77	5.33	5.33	0.75918	.	.	.	.	.	D	0.96516	0.8863	H	0.95079	3.62	0.80722	D	1	D	0.56287	0.975	P	0.59825	0.864	D	0.97337	0.9954	9	0.87932	D	0	.	19.212	0.93760	0.0:1.0:0.0:0.0	.	947	P12883	MYH7_HUMAN	Y	947	ENSP00000347507:C947Y	ENSP00000347507:C947Y	C	-	2	0	MYH7	22963038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.466000	0.80914	2.778000	0.95560	0.655000	0.94253	TGC			0.532	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071798.3		NM_000257		T	23893198	C	T	23893198	3	4	71	1	0	0	0	0	1	0	0	0	10055	710	25	2	3039	2	MYH7	14	23893198	Missense_Mutation	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10	64378	23893198	83456342	41	5126											
HIF1A	3091	mdanderson.org	37	chr14	62207590	62207590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttccgcaagccctgaaagcGcaagtcctcaaagcacagtt	12	7	9	13	2	1	1	1	1	0	0	3	1	3	1	3	0	3	5	3	0	4	2	rs199775054		TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr14:62207590G>A	ENST00000337138.4	+	12	2042	c.1777G>A	c.(1777-1779)Gca>Aca	p.A593T	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.A617T|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.A534T|HIF1A_ENST00000394997.1_Missense_Mutation_p.A594T|HIF1A_ENST00000323441.6_Missense_Mutation_p.A593T	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	593	ID.|ODD.				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)	CCCTGAAAGCGCAAGTCCTCA	0.453																																					p.A617T													.	.			0			c.G1849A												134	125	128					14																	62207590		2203	4300	6503	SO:0001583	missense	3091	exon12			GAAAGCGCAAGTC	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.1777G>A	14.37:g.62207590G>A	ENSP00000338018:p.Ala593Thr		129	0	0		137	0.04	5	NM_001243084	129	0	0	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	7.414	0.635390	0.14322	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.6	1.66	0.24008	.	18.839200	0.00166	U	0.000006	T	0.32941	0.0846	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26708	0.157;0.012;0.012	B;B;B	0.15870	0.014;0.002;0.002	T	0.11591	-1.0581	10	0.09338	T	0.73	.	6.0956	0.20019	0.2557:0.0:0.6235:0.1208	.	594;593;593	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	T	344;534;593;594;593;534;617	ENSP00000338018:A593T;ENSP00000378446:A594T;ENSP00000323326:A593T;ENSP00000451696:A534T;ENSP00000437955:A617T	ENSP00000323326:A593T	A	+	1	0	HIF1A	61277343	0.067000	0.21026	0.019000	0.16419	0.875000	0.50365	1.659000	0.37387	0.098000	0.17522	0.650000	0.86243	GCA			0.453	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000276977.2		NM_001530		A	62207590	G	A	62207590	3	1	71	1	0	0	0	0	1	0	0	0	7118	1087	38	1	1823	1	HIF1A	14	62207590	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	38314392	62207590	45141950	42	5127											
MESP2	145873	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	90319955	90319955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagagcctgaccaagatcGagacgctgcgcctggccatc	9	5	12	15	3	0	4	0	1	0	3	2	5	0	4	5	1	2	1	5	1	1	0			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr15:90319955G>A	ENST00000341735.3	+	1	367	c.367G>A	c.(367-369)Gag>Aag	p.E123K	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	123	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GACCAAGATCGAGACGCTGCG	0.706																																					p.E123K													.	MESP2	20		0			c.G367A												7	10	9					15																	90319955		2140	4224	6364	SO:0001583	missense	145873	exon1			AAGATCGAGACGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.367G>A	15.37:g.90319955G>A	ENSP00000342392:p.Glu123Lys		29	0	0		26	0.15	4	NM_001039958	1	0	0	Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820333	0.50633	.	.	ENSG00000188095	ENST00000341735	D	0.98192	-4.78	3.59	2.64	0.31445	Helix-loop-helix DNA-binding (5);	.	.	.	.	D	0.98280	0.9430	M	0.64997	1.995	0.53688	D	0.999973	D	0.89917	1.0	D	0.76575	0.988	D	0.97947	1.0329	9	0.66056	D	0.02	-9.6817	10.8245	0.46625	0.0:0.0:0.8091:0.1909	.	123	Q0VG99	MESP2_HUMAN	K	123	ENSP00000342392:E123K	ENSP00000342392:E123K	E	+	1	0	MESP2	88120959	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	4.630000	0.61297	0.671000	0.31185	0.313000	0.20887	GAG			0.706	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416421.1		XM_085261		A	90319955	G	A	90319955	3	1	71	1	0	0	0	0	1	0	0	0	9499	1059	37	1	369	1	MESP2	15	90319955	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		90319955	12211437	43	5128											
OR2C1	4993	mdanderson.org	37	chr16	3406387	3406387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctggctgtgattgcctgCctgggtggcttgggcaactc	3	12	15	11	0	0	1	0	1	0	0	1	1	0	1	2	4	4	4	2	4	1	2	rs1218763	byFrequency	TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr16:3406387C>T	ENST00000304936.2	+	1	499	c.447C>T	c.(445-447)tgC>tgT	p.C149C		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	149			C -> W (in dbSNP:rs1218763). {ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9847080, ECO:0000269|Ref.3}.		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						TGATTGCCTGCCTGGGTGGCT	0.617																																					p.C149C													.	.			0			c.C447T												46	45	46					16																	3406387		2197	4300	6497	SO:0001819	synonymous_variant	4993	exon1			TGCCTGCCTGGGT	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.447C>T	16.37:g.3406387C>T			35	0	0		34	0.09	3	NM_012368	0		0	A0AVA4|Q6IF34|Q6IF55	Silent	SNP	ENST00000304936.2	37	CCDS10502.1																																																																																					0.617	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206993.3				T	3406387	C	T	3406387	2	4	71	1	0	0	0	0	0	0	0	1	11009	747	26	2		2	OR2C1	16	3406387	Silent	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10		3406387	86948366	44	5129											
CES1	1066	mdanderson.org	37	chr16	55853459	55853459	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacctaccattttcaatgtCgtctccaagagctcctcttc	9	13	4	15	1	3	1	1	0	2	1	7	1	4	1	4	0	3	1	4	0	4	4	rs114275306	byFrequency	TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr16:55853459C>T	ENST00000361503.4	-	7	1021	c.891G>A	c.(889-891)acG>acA	p.T297T	CES1_ENST00000422046.2_Silent_p.T297T|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000360526.3_Silent_p.T298T			P23141	EST1_HUMAN	carboxylesterase 1	297					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TTTTCAATGTCGTCTCCAAGA	0.512																																					p.T298T	NSCLC(162;1801 2756 42904 52896)												CES1_ENST00000360526,colon,carcinoma,-1,1	CES1_ENST00000360526	-1	1	0			c.G894A							C	,,	0,4396		0,0,2198	123	125	124		891,894,891	-7.6	0	16	dbSNP_132	124	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	297/568,298/569,297/567	55853459	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	1066	exon7			CAATGTCGTCTCC	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.891G>A	16.37:g.55853459C>T			26	0	0		39	0.08	3	NM_001025195	9	0	0	A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	CCDS45488.1																																																																																			0.001		0.512	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000433285.1		NM_001266		T	55853459	C	T	55853459	2	4	71	1	0	0	0	0	0	0	0	1	3271	871	31	1		1	CES1	16	55853459	Silent	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10	52447072	55853459	34501294	45	5130											
TRPV1	7442	mdanderson.org	37	chr17	3493259	3493259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtcggccgtgttgtcggCcacctccaccagggcgtgca	4	9	14	14	4	0	0	0	0	0	0	3	0	1	0	5	3	1	3	5	3	0	2	rs201089655		TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr17:3493259C>T	ENST00000571088.1	-	6	1099	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	SHPK_ENST00000572705.1_Missense_Mutation_p.A296T|TRPV1_ENST00000174621.6_Missense_Mutation_p.A294T|TRPV1_ENST00000425167.2_Missense_Mutation_p.A296T|TRPV1_ENST00000310522.5_Missense_Mutation_p.A296T|TRPV1_ENST00000576351.1_Missense_Mutation_p.A296T|TRPV1_ENST00000399756.4_Missense_Mutation_p.A296T|TRPV1_ENST00000399759.3_Missense_Mutation_p.A296T	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	296					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	gtgttgtcggccACCTCCACC	0.612																																					p.A296T	Melanoma(38;962 1762 15789)												.	.			0			c.G886A												34	40	38					17																	3493259		2148	4241	6389	SO:0001583	missense	7442	exon5			TGTCGGCCACCTC	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.886G>A	17.37:g.3493259C>T	ENSP00000461007:p.Ala296Thr		42	0	0		51	0.06	3	NM_080706	3	0	0	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556534	0.86231	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	4.88	4.88	0.63580	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.985;0.979;0.958;0.999	D	0.88379	0.3000	10	0.87932	D	0	-30.5474	17.4129	0.87492	0.0:1.0:0.0:0.0	.	296;294;296;296	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	T	296;296;294;296;296	ENSP00000382661:A296T;ENSP00000382659:A296T;ENSP00000174621:A294T;ENSP00000409627:A296T;ENSP00000311692:A296T	ENSP00000174621:A294T	A	-	1	0	TRPV1	3440008	1.000000	0.71417	0.997000	0.53966	0.518000	0.34316	5.542000	0.67218	2.439000	0.82584	0.467000	0.42956	GCC			0.612	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438254.1		NM_018727		T	3493259	C	T	3493259	3	4	71	1	0	0	0	0	1	0	0	0	16619	739	26	2	1350	2	TRPV1	17	3493259	Missense_Mutation	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10		3493259	77701951	46	5131											
SLC6A4	6532	broad.mit.edu	37	chr17	28548797	28548797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggtcgctgggatagagtgCcgtgtgtcatctcccgcacc	5	10	14	12	3	2	1	1	0	1	1	4	2	2	2	3	2	1	2	3	2	1	1	rs202193339		TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr17:28548797C>T	ENST00000401766.2	-	2	692	c.180G>A	c.(178-180)cgG>cgA	p.R60R	SLC6A4_ENST00000261707.3_Silent_p.R60R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	60					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GGATAGAGTGCCGTGTGTCAT	0.557																																					p.R60R													.	SLC6A4	60		0			c.G180A												238	206	217					17																	28548797		2203	4300	6503	SO:0001819	synonymous_variant	6532	exon3			AGAGTGCCGTGTG	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.180G>A	17.37:g.28548797C>T			176	0	0		203	0.03	6	NM_001045	0		0	Q5EE02	Silent	SNP	ENST00000401766.2	37	CCDS11256.1																																																																																					0.557	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256115.3		NM_001045		T	28548797	C	T	28548797	2	4	71	1	0	0	0	0	0	0	0	1	14709	726	26	2		2	SLC6A4	17	28548797	Silent	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10	25055538	28548797	52646413	47	5132											
LRRC37B	114659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	30374805	30374805	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatctgtagggaatccAgaaggagcgttcatgaagat	14	8	13	6	1	2	3	1	1	1	2	3	6	3	5	1	2	2	3	1	2	5	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr17:30374805A>G	ENST00000341671.7	+	9	2273	c.2268A>G	c.(2266-2268)ccA>ccG	p.P756P	LRRC37B_ENST00000394713.3_Silent_p.P705P|LRRC37B_ENST00000543378.2_Silent_p.P674P|LRRC37B_ENST00000327564.7_Silent_p.P783P|LRRC37B_ENST00000584368.1_Silent_p.P717P	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	756						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TAGGGAATCCAGAAGGAGCGT	0.458																																					p.P756P													.	.			0			c.A2268G												100	105	103					17																	30374805		2203	4300	6503	SO:0001819	synonymous_variant	114659	exon9			GAATCCAGAAGGA	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2268A>G	17.37:g.30374805A>G			66	0	0		82	0.12	10	NM_052888	15	0.2	3	Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	CCDS32609.1																																																																																					0.458	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446508.1		NM_052888		G	30374805	A	G	30374805	2	3	71	1	0	0	0	0	0	0	0	1	9010	175	7	4		4	LRRC37B	17	30374805	Silent	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10	1826008	30374805	50820405	48	5133											
C17orf64	124773	mdanderson.org	37	chr17	58506854	58506854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcggctgtccaacatGcagaccccaggtcaagggag	12	4	14	11	1	1	1	1	0	0	1	2	3	2	3	3	4	3	2	3	4	3	0			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr17:58506854G>T	ENST00000269127.4	+	5	645	c.561G>T	c.(559-561)atG>atT	p.M187I		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	187										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TGTCCAACATGCAGACCCCAG	0.607																																					p.M187I													.	.			0			c.G561T												52	50	51					17																	58506854		2203	4300	6503	SO:0001583	missense	124773	exon5			CAACATGCAGACC	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.561G>T	17.37:g.58506854G>T	ENSP00000269127:p.Met187Ile		51	0	0		59	0.07	4	NM_181707	2	0	0	Q8IY87	Missense_Mutation	SNP	ENST00000269127.4	37	CCDS32698.2	.	.	.	.	.	.	.	.	.	.	G	9.630	1.136265	0.21123	.	.	ENSG00000141371	ENST00000269127	.	.	.	4.89	2.87	0.33458	.	0.178640	0.39759	N	0.001264	T	0.39489	0.1080	M	0.65975	2.015	0.28192	N	0.927729	B	0.26318	0.146	B	0.21360	0.034	T	0.26710	-1.0095	9	0.24483	T	0.36	-10.3931	6.7156	0.23302	0.0975:0.1793:0.7231:0.0	.	187	Q86WR6	CQ064_HUMAN	I	187	.	ENSP00000269127:M187I	M	+	3	0	C17orf64	55861636	1.000000	0.71417	0.970000	0.41538	0.216000	0.24613	2.971000	0.49248	0.465000	0.27167	0.561000	0.74099	ATG			0.607	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000347743.1		NM_181707		T	58506854	G	T	58506854	3	4	71	1	0	0	0	0	1	0	0	0	1874	1319	46	2	579	2	C17orf64	17	58506854	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	28132049	58506854	22688356	49	5134											
ZBTB7C	201501	hgsc.bcm.edu	37	chr18	45567151	45567151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctccagcatcctggctgCgttgaggatgtgcttgacat	7	12	12	10	1	1	2	0	2	1	0	3	4	2	3	2	2	3	4	2	2	0	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr18:45567151C>T	ENST00000588982.1	-	3	829	c.328G>A	c.(328-330)Gca>Aca	p.A110T	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.A110T|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.A110T|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.A110T|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.A110T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	110							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						ATCCTGGCTGCGTTGAGGATG	0.597																																					p.A110T													ZBTB7C,NS,carcinoma,0,1	ZBTB7C	0	1	0			c.G328A												120	91	101					18																	45567151		2203	4300	6503	SO:0001583	missense	201501	exon2			TGGCTGCGTTGAG	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.328G>A	18.37:g.45567151C>T	ENSP00000468782:p.Ala110Thr		87	0	0		74	0.04	3	NM_001039360	1	0	0	O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150622	0.78001	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.73789	-0.78;-0.78	5.34	5.34	0.76211	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	M	0.65320	2	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	D	0.83799	0.0235	10	0.40728	T	0.16	.	19.0131	0.92882	0.0:1.0:0.0:0.0	.	110;110;110	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	T	110	ENSP00000439781:A110T;ENSP00000328732:A110T	ENSP00000328732:A110T	A	-	1	0	ZBTB7C	43821149	1.000000	0.71417	0.941000	0.38009	0.536000	0.34869	7.818000	0.86416	2.491000	0.84063	0.561000	0.74099	GCA			0.597	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450731.1		NM_001039360		T	45567151	C	T	45567151	3	4	71	1	0	0	0	0	1	0	0	0	17578	768	27	1	1539	1	ZBTB7C	18	45567151	Missense_Mutation	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10		45567151	32510097	50	5135											
TPM4	7171	mdanderson.org	37	chr19	16198892	16198892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagggcagaggagcgtgCggaggtgtctgaactgtgag	9	6	21	5	2	1	4	0	2	1	2	1	7	1	6	0	5	3	1	0	5	1	0			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr19:16198892C>T	ENST00000300933.4	+	4	700	c.440C>T	c.(439-441)gCg>gTg	p.A147V	TPM4_ENST00000344824.6_Missense_Mutation_p.A183V|TPM4_ENST00000538887.1_Missense_Mutation_p.A183V	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	147					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)	p.A183V(1)	TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAGGAGCGTGCGGAGGTGTCT	0.622			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A183V				Dom	yes		19	19p13.1	7171	tropomyosin 4		L	TPM4_ENST00000344824,colon,carcinoma,0,1	TPM4_ENST00000344824	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C548T												92	66	75					19																	16198892		2203	4300	6503	SO:0001583	missense	7171	exon5			AGCGTGCGGAGGT		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.440C>T	19.37:g.16198892C>T	ENSP00000300933:p.Ala147Val		56	0	0	708	56	0.05	3	NM_001145160	461	0	0	P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	ENST00000300933.4	37	CCDS12338.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284861	0.80803	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	T;T;T	0.78003	-1.14;-1.14;-1.14	4.76	4.76	0.60689	.	0.000000	0.53938	U	0.000056	D	0.84719	0.5534	M	0.78285	2.405	0.80722	D	1	B;B	0.33044	0.395;0.322	B;P	0.46172	0.13;0.506	D	0.85985	0.1485	10	0.59425	D	0.04	.	17.139	0.86748	0.0:1.0:0.0:0.0	.	147;183	P67936;P67936-2	TPM4_HUMAN;.	V	183;183;147	ENSP00000345230:A183V;ENSP00000439135:A183V;ENSP00000300933:A147V	ENSP00000300933:A147V	A	+	2	0	TPM4	16059892	1.000000	0.71417	0.848000	0.33437	0.904000	0.53231	7.677000	0.84024	2.345000	0.79718	0.643000	0.83706	GCG			0.622	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000459673.2		NM_003290		T	16198892	C	T	16198892	3	4	71	1	0	0	0	0	1	0	0	0	16432	768	27	1	702	1	TPM4	19	16198892	Missense_Mutation	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10		16198892	42930091	51	5136											
DYRK1B	9149	mdanderson.org	37	chr19	40316581	40316581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggtggtggtgaggttGgtgatgggggacgaccaagg	6	7	23	5	2	0	2	0	2	0	0	0	4	0	3	2	9	0	1	2	9	1	1	rs558804930		TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr19:40316581G>T	ENST00000593685.1	-	11	2132	c.1664C>A	c.(1663-1665)cCa>cAa	p.P555Q	DYRK1B_ENST00000323039.5_Missense_Mutation_p.P555Q|DYRK1B_ENST00000348817.3_Missense_Mutation_p.P527Q|DYRK1B_ENST00000597639.1_Missense_Mutation_p.P527Q|DYRK1B_ENST00000430012.2_Missense_Mutation_p.P515Q			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	555					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)			TGGTGAGGTTGGTGATGGGGG	0.692																																					p.P555Q													.	.			0			c.C1664A												25	31	29					19																	40316581		2158	4251	6409	SO:0001583	missense	9149	exon11			GAGGTTGGTGATG	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.1664C>A	19.37:g.40316581G>T	ENSP00000469863:p.Pro555Gln		26	0	0		21	0.1	2	NM_004714	25	0	0	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330990	0.60853	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.57107	0.42;0.51;0.46	5.15	4.12	0.48240	.	0.457912	0.22753	N	0.056045	T	0.33118	0.0852	N	0.14661	0.345	0.39031	D	0.959947	P;B;P	0.36837	0.571;0.232;0.571	B;B;B	0.35688	0.208;0.103;0.208	T	0.14980	-1.0453	10	0.23302	T	0.38	.	11.2072	0.48775	0.09:0.0:0.91:0.0	.	515;555;527	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	Q	555;527;515	ENSP00000312789:P555Q;ENSP00000221803:P527Q;ENSP00000403182:P515Q	ENSP00000312789:P555Q	P	-	2	0	DYRK1B	45008421	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	4.250000	0.58772	1.156000	0.42514	0.462000	0.41574	CCA			0.692	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462874.2		NM_004714		T	40316581	G	T	40316581	3	4	71	1	0	0	0	0	1	0	0	0	4860	1348	47	3	229	3	DYRK1B	19	40316581	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	24117689	40316581	18812402	52	5137											
SCAF1	58506	mdanderson.org	37	chr19	50156724	50156724	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggaggaggaggaggaGgaagaagaagaggaggagga	15	0	25	1	1	0	3	0	0	0	3	0	12	0	12	0	11	0	0	0	11	3	0	rs570691668		TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr19:50156724G>A	ENST00000360565.3	+	7	3202	c.3078G>A	c.(3076-3078)gaG>gaA	p.E1026E		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1026	Glu-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)		aggaggaggaggaagaagaag	0.657																																					p.E1026E													.	.			0			c.G3078A												7	9	8					19																	50156724		2175	4258	6433	SO:0001819	synonymous_variant	58506	exon7			GGAGGAGGAAGAA	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.3078G>A	19.37:g.50156724G>A			13	0	0		25	0.08	2	NM_021228	26	0	0	Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	CCDS33074.1																																																																																					0.657	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465764.1		NM_021228		A	50156724	G	A	50156724	2	1	71	1	0	0	0	0	0	0	0	1	13891	991	35	3		3	SCAF1	19	50156724	Silent	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	9840143	50156724	8972259	53	5138											
ZNF83	55769	bcgsc.ca	37	chr19	53116855	53116856	+	Missense_Mutation	DNP	CT	CT	TA																															tgactgaagaccttgccacaCtcattacatttgtaaggttt																								rs199873537|rs7247359		TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	CT	CT					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr19:53116855_53116856CT>TA	ENST00000597597.1	-	2	3215_3216	c.962_963AG>TA	c.(961-963)gAG>gTA	p.E321V	ZNF83_ENST00000391789.4_Missense_Mutation_p.E293V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.E321V|ZNF83_ENST00000301096.3_Missense_Mutation_p.E321V|ZNF83_ENST00000536937.1_Missense_Mutation_p.E321V|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.E321V|ZNF83_ENST00000545872.1_Missense_Mutation_p.E321V			P51522	ZNF83_HUMAN	zinc finger protein 83	321					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)		CCTTGCCACACTCATTACATTT	0.411																																					p.E321V													.	ZNF83	73		0			c.A962T																																									SO:0001583	missense	55769	exon3			GCCACACTCATTA	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.962_963delinsTA	19.37:g.53116855_53116856delinsTA	ENSP00000472619:p.Glu321Val		89	0	0		99	0.06	6	NM_018300	14	0	0	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	DNP	ENST00000597597.1	37	CCDS12854.1																																																																																					0.411	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463700.1		NM_018300		TA	53116856	CT	TA	53116855	3	4	71	1	0	0	0	0	1	0	0	0	18206	564	20	3	591	3	ZNF83	19	53116855	Missense_Mutation	DNP	CT	TCGA-2G-AALS-01A-12D-A42Y-10	2960131	53116855	6012128	54	5139	10	2									
ZNF83	55769	bcgsc.ca	37	chr19	53116865	53116865	+	Missense_Mutation	SNP	T	T	C																															ccttgccacactcattacatTtgtaaggtttctctccagta																								rs141749555		TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr19:53116865T>C	ENST00000597597.1	-	2	3206	c.953A>G	c.(952-954)aAa>aGa	p.K318R	ZNF83_ENST00000391789.4_Missense_Mutation_p.K290R|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.K318R|ZNF83_ENST00000301096.3_Missense_Mutation_p.K318R|ZNF83_ENST00000536937.1_Missense_Mutation_p.K318R|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.K318R|ZNF83_ENST00000545872.1_Missense_Mutation_p.K318R			P51522	ZNF83_HUMAN	zinc finger protein 83	318					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)		CTCATTACATTTGTAAGGTTT	0.413																																					p.K318R													.	ZNF83	73		0			c.A953G												98	104	102					19																	53116865		2203	4300	6503	SO:0001583	missense	55769	exon3			TTACATTTGTAAG	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.953A>G	19.37:g.53116865T>C	ENSP00000472619:p.Lys318Arg		90	0	0		95	0.06	6	NM_018300	11	0	0	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	8.722	0.914503	0.17907	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	2.16	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	N	0.16201	0.385	0.09310	N	1	B;D	0.69078	0.017;0.997	B;D	0.81914	0.01;0.995	T	0.10706	-1.0618	9	0.54805	T	0.06	.	3.4318	0.07432	0.0:0.144:0.2323:0.6237	.	290;318	P51522-2;P51522	.;ZNF83_HUMAN	R	318;318;318;290;318;318;290	ENSP00000445993:K318R;ENSP00000301096:K318R;ENSP00000445470:K318R;ENSP00000440713:K318R;ENSP00000439681:K318R;ENSP00000375666:K290R	ENSP00000301096:K318R	K	-	2	0	ZNF83	57808677	0.000000	0.05858	0.706000	0.30403	0.082000	0.17680	-0.250000	0.08830	0.101000	0.17610	-0.540000	0.04249	AAA			0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463700.1		NM_018300		C	53116865	T	C	53116865	3	2	71	1	0	0	0	0	1	0	0	0	18206	1841	64	4	601	4	ZNF83	19	53116865	Missense_Mutation	SNP	T	TCGA-2G-AALS-01A-12D-A42Y-10	10	53116865	6012118	55	5140	10	2									
UBASH3A	53347	mdanderson.org	37	chr21	43867289	43867289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatttaactggaggaactgGatctcaggcaactgagagcc	12	8	12	9	0	1	1	1	1	1	1	2	5	1	4	1	4	4	2	1	4	3	2			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr21:43867289G>T	ENST00000319294.6	+	15	2002	c.1971G>T	c.(1969-1971)tgG>tgT	p.W657C	UBASH3A_ENST00000398367.1_3'UTR|UBASH3A_ENST00000291535.6_Missense_Mutation_p.W619C	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	657	Phosphatase-like.				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						GGAGGAACTGGATCTCAGGCA	0.527																																					p.W657C													UBASH3A,bladder,carcinoma,0,1	UBASH3A	0	1	0			c.G1971T												118	121	120					21																	43867289		2203	4300	6503	SO:0001583	missense	53347	exon15			GAACTGGATCTCA	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.1971G>T	21.37:g.43867289G>T	ENSP00000317327:p.Trp657Cys		26	0	0		23	0.09	2	NM_018961	18	0	0	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429089	0.25726	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	T;T	0.08008	3.14;3.14	4.98	4.09	0.47781	.	0.239499	0.30302	N	0.009929	T	0.08133	0.0203	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.53313	0.723;0.666	T	0.41822	-0.9487	10	0.39692	T	0.17	-11.7509	11.8935	0.52644	0.0:0.3389:0.661:0.0	.	619;657	P57075-2;P57075	.;UBS3A_HUMAN	C	619;657	ENSP00000291535:W619C;ENSP00000317327:W657C	ENSP00000291535:W619C	W	+	3	0	UBASH3A	42740358	0.998000	0.40836	0.943000	0.38184	0.004000	0.04260	1.464000	0.35288	1.065000	0.40693	-0.302000	0.09304	TGG			0.527	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000195382.1		NM_001001895		T	43867289	G	T	43867289	3	4	71	1	0	0	0	0	1	0	0	0	16863	1183	41	3	2029	3	UBASH3A	21	43867289	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		43867289	4262606	56	5141											
DGCR8	54487	mdanderson.org	37	chr22	20073919	20073919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagcagagcgcgacgtgCgggcggagtgcggtctgctc	6	5	19	11	6	1	1	0	0	1	1	2	4	1	3	0	4	5	2	0	4	0	0	rs118025402	byFrequency	TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr22:20073919C>T	ENST00000351989.3	+	2	862	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	DGCR8_ENST00000383024.2_Missense_Mutation_p.R145W|MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.R145W|MIR3618_ENST00000580330.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	145	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				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)					GCGCGACGTGCGGGCGGAGTG	0.577													C|||	3	0.000599042	0	0	5008	,	,		19838	0.003		0	False		,,,				2504	0				p.R145W													.	.			0			c.C433T							C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	113	100	104		433,433	3.2	0.2	22	dbSNP_133	104	0,8600		0,0,4300	yes	missense,missense	DGCR8	NM_001190326.1,NM_022720.6	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	145/741,145/774	20073919	2,13004	2203	4300	6503	SO:0001583	missense	54487	exon2			GACGTGCGGGCGG	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.433C>T	22.37:g.20073919C>T	ENSP00000263209:p.Arg145Trp		37	0	0		51	0.06	3	NM_001190326	21	0	0	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	14.60	2.584463	0.46110	4.54E-4	0.0	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.32515	1.45;1.45;1.45	5.42	3.23	0.37069	.	0.449369	0.26546	N	0.023777	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B;D	0.53885	0.005;0.963	B;B	0.43623	0.001;0.425	T	0.10314	-1.0635	10	0.72032	D	0.01	-10.8666	1.8807	0.03227	0.2078:0.494:0.1287:0.1696	.	145;145	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	W	145	ENSP00000263209:R145W;ENSP00000372488:R145W;ENSP00000384726:R145W	ENSP00000263209:R145W	R	+	1	2	DGCR8	18453919	1.000000	0.71417	0.218000	0.23776	0.852000	0.48524	2.438000	0.44837	1.527000	0.49086	0.491000	0.48974	CGG	0		0.577	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318654.1				T	20073919	C	T	20073919	3	4	71	1	0	0	0	0	1	0	0	0	4469	759	27	1	435	1	DGCR8	22	20073919	Missense_Mutation	SNP	C	TCGA-2G-AALS-01A-12D-A42Y-10		20073919	31230647	57	5142											
DDX17	11015	broad.mit.edu;mdanderson.org	37	chr22	38881967	38881967	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaaggaggaggagggggAggaggaggagggtattggta	11	5	24	1	1	0	1	0	1	0	0	0	8	0	8	0	10	0	2	0	10	3	3			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chr22:38881967A>G	ENST00000216014.4	+	0	1728				DDX17_ENST00000396821.3_Silent_p.P723P|DDX17_ENST00000444597.1_Silent_p.P173P|DDX17_ENST00000381633.3_Silent_p.P644P	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						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)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					gaggagggggaggaggaggag	0.478																																					p.P723P	Ovarian(11;103 529 24120 28493 32980)												.	DDX17	73		0			c.T2169C												129	119	122					22																	38881967		2203	4300	6503	SO:0001628	intergenic_variant	10521	exon13			AGGGGGAGGAGGA	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881967A>G			62	0.0161290323	1		52	0.06	3	NM_001098504	103	0	0	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	A	0.782	-0.761790	0.02996	.	.	ENSG00000100201	ENST00000404499	.	.	.	5.42	-5.18	0.02840	.	.	.	.	.	T	0.46756	0.1409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47032	-0.9148	4	.	.	.	-8.4598	5.7554	0.18170	0.2889:0.0:0.3497:0.3614	.	.	.	.	P	714	.	.	L	-	2	0	DDX17	37211913	0.000000	0.05858	0.459000	0.27081	0.396000	0.30629	-4.121000	0.00291	-0.684000	0.05183	-1.258000	0.01471	CTC			0.478	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331474.1				G	38881967	A	G	38881967	1	3	71	0	1	0	0	0	0	0	0	0	4346	291	11	4		4	DDX17	22	38881967	IGR	SNP	A	TCGA-2G-AALS-01A-12D-A42Y-10	18808048	38881967	12422599	58	5143											
IQSEC2	23096	mdanderson.org	37	chrX	53279934	53279934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagagccgcgatctgagcgGtcactcaggtccacggagct	9	6	13	13	4	3	2	2	1	1	1	4	4	4	3	2	3	3	1	2	3	0	0			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chrX:53279934G>T	ENST00000375368.5	-	4	1994	c.1794C>A	c.(1792-1794)gaC>gaA	p.D598E	IQSEC2_ENST00000396435.3_Missense_Mutation_p.D608E|IQSEC2_ENST00000375365.2_Missense_Mutation_p.D403E			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	598	Pro-rich.				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						GATCTGAGCGGTCACTCAGGT	0.662																																					p.D608E													.	.			0			c.C1824A												19	17	18					X																	53279934		2200	4295	6495	SO:0001583	missense	23096	exon5			TGAGCGGTCACTC	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.1794C>A	X.37:g.53279934G>T	ENSP00000364517:p.Asp598Glu		29	0	0		46	0.07	3	NM_001111125	5	0	0	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	g	18.06	3.538304	0.65085	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.35605	1.31;1.3;1.72	5.37	2.2	0.27929	.	.	.	.	.	T	0.30324	0.0761	L	0.52905	1.665	0.40381	D	0.979443	B;B	0.18863	0.031;0.003	B;B	0.19666	0.026;0.011	T	0.07083	-1.0791	9	0.46703	T	0.11	.	6.0851	0.19962	0.2105:0.1437:0.6458:0.0	.	608;403	Q5JU85-2;Q5JU85-3	.;.	E	608;598;403	ENSP00000379712:D608E;ENSP00000364517:D598E;ENSP00000364514:D403E	ENSP00000364514:D403E	D	-	3	2	IQSEC2	53296659	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.965000	0.29319	-0.001000	0.14495	0.597000	0.82753	GAC			0.662	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding				XM_291345		T	53279934	G	T	53279934	3	4	71	1	0	0	0	0	1	0	0	0	7833	1252	44	3	2686	3	IQSEC2	23	53279934	Missense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10		53279934	101990626	59	5144											
FAM104B	90736	mdanderson.org	37	chrX	55172630	55172630	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacccctcatgcaagaactGgggaaagtttgcatcgggtt	11	10	11	9	1	1	1	1	0	0	1	2	2	1	2	2	3	4	4	2	3	4	3	rs113263757		TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chrX:55172630G>A	ENST00000358460.4	-	3	388	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.Q76*|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.Q78*|FAM104B_ENST00000332132.4_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	79										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TGCAAGAACTGGGGAAAGTTT	0.493																																					p.Q80X													.	.			0			c.C238T												127	104	112					X																	55172630		2203	4300	6503	SO:0001587	stop_gained	90736	exon3			AGAACTGGGGAAA	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.235C>T	X.37:g.55172630G>A	ENSP00000364101:p.Gln79*		23	0.0869565217	2		40	0.1	4	NM_001166700	34	0.03	1	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	11.17	1.559418	0.27827	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.6	1.6	0.23607	.	0.325359	0.21941	U	0.066869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.2487	6.0913	0.19995	0.0:0.0:1.0:0.0	.	.	.	.	X	79;80;80;76;78	.	ENSP00000333394:Q80X	Q	-	1	0	FAM104B	55189355	0.905000	0.30787	0.015000	0.15790	0.033000	0.12548	1.600000	0.36762	1.084000	0.41184	0.436000	0.28706	CAG			0.493	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		A	55172630	G	A	55172630	4	1	71	1	0	0	0	0	0	1	0	0	5396	1357	47	3	217	3	FAM104B	23	55172630	Nonsense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	1892696	55172630	100097930	60	5145											
AR	367	mdanderson.org	37	chrX	66766585	66766585	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggatggatagctactccGgaccttacggggacatgcgg	8	8	14	11	3	0	0	0	0	0	0	1	4	1	4	3	6	4	1	3	6	3	3			TCGA-2G-AALS-01A-12D-A42Y-10	TCGA-2G-AALS-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34d1f451-0b1c-4caf-bd25-c4b7fc096820	120ca414-0a11-4d4b-8742-6e6b7532ab65	g.chrX:66766585G>T	ENST00000374690.3	+	1	2121	c.1597G>T	c.(1597-1599)Gga>Tga	p.G533*	AR_ENST00000504326.1_Nonsense_Mutation_p.G533*|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Nonsense_Mutation_p.G533*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	532	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|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)|RNA polymerase II transcription factor binding (GO:0001085)|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)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TAGCTACTCCGGACCTTACGG	0.562									Androgen Insensitivity Syndrome																												p.G533X													.	.			0			c.G1597T												51	36	41					X																	66766585		2203	4300	6503	SO:0001587	stop_gained	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TACTCCGGACCTT	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1597G>T	X.37:g.66766585G>T	ENSP00000363822:p.Gly533*		38	0	0		52	0.06	3	NM_000044	0		0	A2RUN2|B1AKD7|Q9UD95	Nonsense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	43	10.370788	0.99392	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	.	.	.	5.06	5.06	0.68205	.	0.076358	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.701	0.69157	0.0:0.0:1.0:0.0	.	.	.	.	X	343;533;533;533;525	.	ENSP00000363822:G533X	G	+	1	0	AR	66683310	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	6.141000	0.71744	2.349000	0.79799	0.509000	0.49947	GGA			0.562	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057007.1		NM_000044		T	66766585	G	T	66766585	4	4	71	1	0	0	0	0	0	1	0	0	836	1117	39	1	1599	1	AR	23	66766585	Nonsense_Mutation	SNP	G	TCGA-2G-AALS-01A-12D-A42Y-10	11593955	66766585	88503975	61	5146											
CCDC21	64793	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	26584633	26584633	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattctaccggcttgtgcaGgcagaggaaacacatctctc	10	10	10	11	1	2	2	0	1	2	1	4	3	2	3	1	3	3	3	1	3	2	3			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr1:26584633G>C	ENST00000252992.4	+	6	1168		c.e6-1		CEP85_ENST00000451429.2_Splice_Site	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa							centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGCTTGTGCAGGCAGAGGAAA	0.527																																					.													.	CEP85	61		0			c.1038-1G>C												93	90	91					1																	26584633		2203	4300	6503	SO:0001630	splice_region_variant	64793	exon6			TGTGCAGGCAGAG	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1038-1G>C	1.37:g.26584633G>C			69	0.0144927536	1		95	0.18	17	NM_022778	0		0	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Splice_Site	SNP	ENST00000252992.4	37	CCDS277.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550002	0.86127	.	.	ENSG00000130695	ENST00000451429;ENST00000252992;ENST00000453146	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP85	26457220	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	.			0.527	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009492.2		NM_022778	Intron	C	26584633	G	C	26584633	5	2	72	1	0	0	0	0	0	0	1	0	2798	1014	35	5	1055	5	CCDC21	1	26584633	Splice_Site	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10		26584633	222665988	1	5147											
KPNA6	23633	mdanderson.org	37	chr1	32635499	32635499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaggtacctggtctcactgGgctgcatcaaacccctatgt	8	11	9	13	0	2	0	2	0	1	0	3	0	2	0	3	3	3	3	3	3	4	3			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr1:32635499G>T	ENST00000373625.3	+	13	1354	c.1261G>T	c.(1261-1263)Ggc>Tgc	p.G421C	RP4-622L5.2_ENST00000515055.1_RNA|KPNA6_ENST00000537234.1_Missense_Mutation_p.G418C|KPNA6_ENST00000545542.1_Missense_Mutation_p.G426C	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	421					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGTCTCACTGGGCTGCATCAA	0.532																																					p.G421C													.	.			0			c.G1261T												164	151	155					1																	32635499		2203	4300	6503	SO:0001583	missense	23633	exon13			TCACTGGGCTGCA	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.1261G>T	1.37:g.32635499G>T	ENSP00000362728:p.Gly421Cys		54	0	0		66	0.06	4	NM_012316	7	0	0	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	CCDS352.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663000	0.88251	.	.	ENSG00000025800	ENST00000373625;ENST00000537234;ENST00000545542	D;D;D	0.83992	-1.79;-1.79;-1.79	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.089181	0.85682	D	0.000000	D	0.94341	0.8181	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77557	0.921;0.953;0.99	D	0.95541	0.8612	10	0.87932	D	0	-13.684	19.7013	0.96054	0.0:0.0:1.0:0.0	.	426;426;421	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	C	421;418;426	ENSP00000362728:G421C;ENSP00000444930:G418C;ENSP00000440609:G426C	ENSP00000362728:G421C	G	+	1	0	KPNA6	32408086	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.858000	0.99539	2.831000	0.97527	0.655000	0.94253	GGC			0.532	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000012527.4		NM_012316		T	32635499	G	T	32635499	3	4	72	1	0	0	0	0	1	0	0	0	8449	1232	43	3	1311	3	KPNA6	1	32635499	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	6050866	32635499	216615122	2	5148											
FAM129A	116496	mdanderson.org	37	chr1	184764457	184764457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcctctcctgggagcTccccctccatgggccccagg	4	7	12	18	0	1	0	0	0	1	0	4	1	3	1	7	4	2	2	7	4	0	0	rs150071238	byFrequency	TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr1:184764457T>C	ENST00000367511.3	-	14	2634	c.2441A>G	c.(2440-2442)gAg>gGg	p.E814G	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	814	Glu-rich.				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						TCCTGGGAGCTCCCCCTCCAT	0.652													T|||	13	0.00259585	0.0091	0.0014	5008	,	,		16065	0		0	False		,,,				2504	0				p.E814G													.	.			0			c.A2441G							T	GLY/GLU	19,4387		0,19,2184	53	55	54		2441	-0.2	0.1	1	dbSNP_134	54	0,8600		0,0,4300	yes	missense	FAM129A	NM_052966.2	98	0,19,6484	CC,CT,TT		0.0,0.4312,0.1461	benign	814/929	184764457	19,12987	2203	4300	6503	SO:0001583	missense	116496	exon14			GGGAGCTCCCCCT	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.2441A>G	1.37:g.184764457T>C	ENSP00000356481:p.Glu814Gly		46	0	0		55	0.05	3	NM_052966	6	0	0	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	T	12.53	1.966555	0.34659	0.004312	0.0	ENSG00000135842	ENST00000367511	T	0.14144	2.53	5.25	-0.206	0.13193	.	0.795470	0.11491	N	0.558744	T	0.03390	0.0098	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37174	-0.9717	10	0.32370	T	0.25	-12.7741	1.3804	0.02229	0.3079:0.087:0.1497:0.4554	.	814	Q9BZQ8	NIBAN_HUMAN	G	814	ENSP00000356481:E814G	ENSP00000356481:E814G	E	-	2	0	FAM129A	183031080	0.105000	0.21958	0.050000	0.19076	0.082000	0.17680	1.501000	0.35693	0.001000	0.14605	-0.689000	0.03729	GAG	0.003		0.652	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085786.1				C	184764457	T	C	184764457	3	2	72	1	0	0	0	0	1	0	0	0	5446	1551	54	4	349	4	FAM129A	1	184764457	Missense_Mutation	SNP	T	TCGA-2G-AALT-01A-11D-A42Y-10	152128958	184764457	64486164	3	5149											
EPRS	2058	broad.mit.edu	37	chr1	220195789	220195789	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcatgtcaatttttgctcGcaaacaacaggactgaccaa	14	10	6	11	1	2	1	2	1	0	0	3	2	2	2	1	1	3	2	1	1	4	2			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr1:220195789G>A	ENST00000366923.3	-	9	1284	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	339	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)	p.R339*(1)		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)	ATTTTTGCTCGCAAACAACAG	0.363																																					p.R339X													EPRS,NS,carcinoma,0,1	EPRS	140	1	1	Substitution - Nonsense(1)	endometrium(1)	c.C1015T												246	229	234					1																	220195789		2203	4300	6503	SO:0001587	stop_gained	2058	exon9			TTGCTCGCAAACA	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.1015C>T	1.37:g.220195789G>A	ENSP00000355890:p.Arg339*		199	0.0050251256	1		263	0.02	6	NM_004446	0		0	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Nonsense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	39	7.825130	0.98510	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	.	.	.	5.74	0.95	0.19572	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8565	16.4461	0.83932	0.0:0.0:0.5283:0.4717	.	.	.	.	X	339;339;363	.	ENSP00000355890:R339X	R	-	1	2	EPRS	218262412	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	2.552000	0.45828	0.277000	0.22141	0.561000	0.74099	CGA			0.363	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091133.2		NM_004446		A	220195789	G	A	220195789	4	1	72	1	0	0	0	0	0	1	0	0	5198	1095	38	1	3619	1	EPRS	1	220195789	Nonsense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	35431332	220195789	29054832	4	5150											
EMILIN1	11117	mdanderson.org	37	chr2	27305716	27305716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcggaggagcaggaggAgagctggcctggggctcctg	6	6	18	11	1	0	1	0	0	0	1	2	5	1	4	3	7	2	3	3	7	0	1			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr2:27305716A>G	ENST00000380320.4	+	4	1776	c.1277A>G	c.(1276-1278)gAg>gGg	p.E426G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	426					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAGGAGGAGAGCTGGCCT	0.711																																					p.E426G													.	.			0			c.A1277G												5	7	6					2																	27305716		2034	4135	6169	SO:0001583	missense	11117	exon4			AGGAGGAGAGCTG	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1277A>G	2.37:g.27305716A>G	ENSP00000369677:p.Glu426Gly		11	0	0		23	0.13	3	NM_007046	351	0	0	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	A	3.769	-0.048042	0.07407	.	.	ENSG00000138080	ENST00000380320	T	0.63255	-0.03	5.36	-0.16	0.13375	.	0.784816	0.11721	N	0.535849	T	0.34337	0.0894	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.14531	-1.0469	10	0.33940	T	0.23	-5.5392	3.7225	0.08462	0.5614:0.0:0.2834:0.1551	.	426	Q9Y6C2	EMIL1_HUMAN	G	426	ENSP00000369677:E426G	ENSP00000369677:E426G	E	+	2	0	EMILIN1	27159220	0.315000	0.24571	0.021000	0.16686	0.033000	0.12548	0.878000	0.28126	0.055000	0.16094	-0.473000	0.04963	GAG			0.711	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214185.1		NM_007046		G	27305716	A	G	27305716	3	3	72	1	0	0	0	0	1	0	0	0	5100	304	11	4	1291	4	EMILIN1	2	27305716	Missense_Mutation	SNP	A	TCGA-2G-AALT-01A-11D-A42Y-10		27305716	215893657	5	5151											
AMMECR1L	83607	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	128628896	128628896	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaatgcagccacgaagccGcttgtcccgccctgtcttcc	6	8	8	19	3	1	0	0	0	1	0	3	1	3	0	6	0	3	2	6	0	2	2	rs371126249		TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr2:128628896G>T	ENST00000272647.5	-	4	705	c.445C>A	c.(445-447)Cgg>Agg	p.R149R	AMMECR1L_ENST00000393001.1_Silent_p.R149R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	149	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CCACGAAGCCGCTTGTCCCGC	0.453																																					p.R149R													.	AMMECR1L	22		0			c.C445A							G	,	0,4406		0,0,2203	51	52	52		445,445	5.4	1	2		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AMMECR1L	NM_001199140.1,NM_031445.2	,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	149/311,149/311	128628896	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83607	exon4			GAAGCCGCTTGTC		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.445C>A	2.37:g.128628896G>T			88	0.0113636364	1		98	0.28	27	NM_031445	0		0	B4E276	Silent	SNP	ENST00000272647.5	37	CCDS2152.1																																																																																					0.453	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254392.1		NM_031445		T	128628896	G	T	128628896	2	4	72	1	0	0	0	0	0	0	0	1	579	1086	38	1		1	AMMECR1L	2	128628896	Silent	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	101323180	128628896	114570477	6	5152											
LRP1B	53353	broad.mit.edu	37	chr2	141751584	141751585	+	In_Frame_Ins	INS	-	-	CGCTTC																															gcagtttactgaatcctcatINScgcttccgtctaggcagtca																										TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr2:141751584_141751585insCGCTTC	ENST00000389484.3	-	16	3594_3595	c.2623_2624insGAAGCG	c.(2623-2625)gat>gGAAGCGat	p.874_875insGS	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	874	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAATCCTCATCGCTTCCGTCT	0.431										TSP Lung(27;0.18)																											p.D875delinsGSD	Colon(99;50 2074 2507 20106)												.	LRP1B	1315		0			c.2624_2625insGAAGCG																																									SO:0001652	inframe_insertion	53353	exon16			TCCTCATCGCTTC	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.2618_2623dupGAAGCG	2.37:g.141751585_141751590dupCGCTTC	ENSP00000374135:p.Gly873_Ser874dup		82	0	0		86	0.09	8	NM_018557	0		0	Q8WY29|Q8WY30|Q8WY31	In_Frame_Ins	INS	ENST00000389484.3	37	CCDS2182.1																																																																																					0.431	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254736.2		NM_018557		CGCTTC	141751585	-	CGCTTC	141751584	7	5	72	1	0	1	1	0	0	0	0	0	8971	1435	50	0	11479	0	LRP1B	2	141751584	In_Frame_Ins	INS	-	TCGA-2G-AALT-01A-11D-A42Y-10	13122688	141751584	101447789	7	5153											
UBR3	130507	mdanderson.org	37	chr2	170684527	170684527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaggccgggggcgcctgCgactgcggggacagcaacgt	7	3	18	13	5	0	0	0	0	0	0	0	2	0	1	3	5	5	1	3	5	1	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr2:170684527C>T	ENST00000272793.5	+	1	560	c.510C>T	c.(508-510)tgC>tgT	p.C170C	UBR3_ENST00000418381.1_Silent_p.C170C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	170					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						GGGGCGCCTGCGACTGCGGGG	0.721																																					p.C170C													.	.			0			c.C510T												6	6	6					2																	170684527		667	1545	2212	SO:0001819	synonymous_variant	130507	exon1			CGCCTGCGACTGC	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.510C>T	2.37:g.170684527C>T			16	0	0		17	0.18	3	NM_172070	0		0	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37																																																																																						0.721	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255290.2		NM_172070		T	170684527	C	T	170684527	2	4	72	1	0	0	0	0	0	0	0	1	16927	776	27	1		1	UBR3	2	170684527	Silent	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10	28932943	170684527	72514846	8	5154											
ATP2B2	491	mdanderson.org	37	chr3	10413495	10413495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggtccacacttaccaGaatcttggtggtgtaggcgc	7	11	12	11	1	1	1	0	0	1	1	2	1	2	1	3	4	2	1	3	4	3	3			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr3:10413495G>T	ENST00000352432.4	-	11	1726	c.1657C>A	c.(1657-1659)Ctg>Atg	p.L553M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.L508M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.L508M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.L553M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L539M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	553					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						ACACTTACCAGAATCTTGGTG	0.517																																					p.L553M	Ovarian(125;1619 1709 15675 19819 38835)												.	.			0			c.C1657A												127	108	114					3																	10413495		2203	4300	6503	SO:0001583	missense	491	exon12			TTACCAGAATCTT	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.1657C>A	3.37:g.10413495G>T	ENSP00000324172:p.Leu553Met		108	0	0		123	0.04	5	NM_001001331	0		0	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151763	0.57151	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	4.43	2.64	0.31445	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.083179	0.50627	D	0.000106	D	0.91737	0.7387	L	0.37800	1.135	0.58432	D	0.999997	B;B;B	0.31383	0.321;0.12;0.023	B;B;B	0.38458	0.274;0.063;0.039	D	0.86122	0.1569	10	0.34782	T	0.22	-7.0384	7.9602	0.30066	0.2514:0.0:0.7486:0.0	.	488;520;553	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	553;508;508;553;539;488;45;409;553	ENSP00000324172:L553M;ENSP00000373311:L508M;ENSP00000380267:L508M;ENSP00000353414:L553M;ENSP00000344677:L539M;ENSP00000414854:L409M	ENSP00000342954:L553M	L	-	1	2	ATP2B2	10388495	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	5.541000	0.67212	0.498000	0.27948	0.655000	0.94253	CTG			0.517	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000250576.2		NM_001683		T	10413495	G	T	10413495	3	4	72	1	0	0	0	0	1	0	0	0	1140	933	33	3	2122	3	ATP2B2	3	10413495	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10		10413495	187608935	9	5155											
QTRTD1	79691	mdanderson.org	37	chr3	113798888	113798888	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagttttgattaccagccGaatcctgaagagacacgtaa	13	11	8	9	2	1	3	1	2	0	1	2	5	2	3	3	0	2	2	3	0	4	5	rs370420090		TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr3:113798888G>T	ENST00000493014.1	+	4	632	c.564G>T	c.(562-564)ccG>ccT	p.P188P	QTRTD1_ENST00000479882.1_Silent_p.P171P|QTRTD1_ENST00000281273.4_Silent_p.P294P|QTRTD1_ENST00000485050.1_Silent_p.P306P	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						ATTACCAGCCGAATCCTGAAG	0.383																																					p.P306P													.	.			0			c.G918T												164	164	164					3																	113798888		2203	4300	6503	SO:0001819	synonymous_variant	79691	exon7			CCAGCCGAATCCT	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.564G>T	3.37:g.113798888G>T			99	0	0		90	0.04	4	NM_001256835	1	0	0		Silent	SNP	ENST00000493014.1	37	CCDS58845.1																																																																																					0.383	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000354711.1		NM_024638		T	113798888	G	T	113798888	2	4	72	1	0	0	0	0	0	0	0	1	12909	1045	37	1		1	QTRTD1	3	113798888	Silent	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	103385393	113798888	84223542	10	5156											
RHO	6010	broad.mit.edu	37	chr3	129252455	129252455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttgccttccagttccGgaactgcatgctcaccacca	7	10	7	17	1	2	0	1	0	1	0	4	1	4	1	6	1	4	3	6	1	1	3			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr3:129252455G>T	ENST00000296271.3	+	5	1035	c.941G>T	c.(940-942)cGg>cTg	p.R314L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	314					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TTCCAGTTCCGGAACTGCATG	0.622																																					p.R314L	Esophageal Squamous(118;214 1623 30842 43234 46940)												.	RHO	57		0			c.G941T												153	134	140					3																	129252455		2203	4300	6503	SO:0001583	missense	6010	exon5			AGTTCCGGAACTG	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	10012	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.941G>T	3.37:g.129252455G>T	ENSP00000296271:p.Arg314Leu		66	0	0		75	0.04	3	NM_000539	0		0	Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151973	0.94645	.	.	ENSG00000163914	ENST00000296271	T	0.57595	0.39	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.82707	-0.0324	10	0.87932	D	0	.	18.7559	0.91832	0.0:0.0:1.0:0.0	.	314	P08100	OPSD_HUMAN	L	314	ENSP00000296271:R314L	ENSP00000296271:R314L	R	+	2	0	RHO	130735145	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.383000	0.97214	2.428000	0.82296	0.655000	0.94253	CGG			0.622	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356101.1		NM_000539		T	129252455	G	T	129252455	3	4	72	1	0	0	0	0	1	0	0	0	13353	1116	39	1	959	1	RHO	3	129252455	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	15453567	129252455	68769975	11	5157											
ZNF518B	85460	bcgsc.ca;mdanderson.org	37	chr4	10445650	10445650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggggattaacactggcGtggcaacatgagccttcctg	8	11	12	10	1	0	1	0	1	0	0	1	2	1	2	2	4	3	1	2	4	2	3			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr4:10445650G>A	ENST00000326756.3	-	3	2741	c.2303C>T	c.(2302-2304)aCg>aTg	p.T768M		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	768					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAACACTGGCGTGGCAACATG	0.463																																					p.T768M													.	ZNF518B	116		0			c.C2303T												87	87	87					4																	10445650		2203	4300	6503	SO:0001583	missense	85460	exon3			ACTGGCGTGGCAA	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2303C>T	4.37:g.10445650G>A	ENSP00000317614:p.Thr768Met		157	0	0		180	0.03	6	NM_053042	4	0	0	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165700	0.57476	.	.	ENSG00000178163	ENST00000326756	T	0.01745	4.66	6.02	5.01	0.66863	.	0.548806	0.17130	N	0.185852	T	0.03959	0.0111	L	0.43152	1.355	0.09310	N	0.999999	D	0.69078	0.997	P	0.50231	0.635	T	0.34725	-0.9817	10	0.87932	D	0	-17.503	13.4264	0.61028	0.0843:0.0:0.9157:0.0	.	768	Q9C0D4	Z518B_HUMAN	M	768	ENSP00000317614:T768M	ENSP00000317614:T768M	T	-	2	0	ZNF518B	10054748	0.901000	0.30685	0.581000	0.28614	0.716000	0.41182	3.521000	0.53472	2.865000	0.98341	0.655000	0.94253	ACG			0.463	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359040.1		NM_053042		A	10445650	G	A	10445650	3	1	72	1	0	0	0	0	1	0	0	0	17986	1145	40	1	925	1	ZNF518B	4	10445650	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10		10445650	180708626	12	5158											
TECRL	253017	broad.mit.edu	37	chr4	65240937	65240937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaatagtagatgattgtGtcacctgaaaaggaaaagaa	18	9	10	4	0	1	5	1	3	0	2	1	6	1	6	1	1	0	1	1	1	8	3			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr4:65240937G>T	ENST00000381210.3	-	2	349	c.239C>A	c.(238-240)aCa>aAa	p.T80K	TECRL_ENST00000507440.1_Missense_Mutation_p.T80K	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	80					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGATGATTGTGTCACCTGAAA	0.204																																					p.T80K													.	TECRL	106		0			c.C239A												9	10	10					4																	65240937		2072	4134	6206	SO:0001583	missense	253017	exon2			GATTGTGTCACCT	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.239C>A	4.37:g.65240937G>T	ENSP00000370607:p.Thr80Lys		412	0	0		468	0.02	8	NM_001010874	0		0		Missense_Mutation	SNP	ENST00000381210.3	37	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	7.862	0.726356	0.15439	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.41758	0.99;0.99;0.99	5.59	2.78	0.32641	.	0.551148	0.20396	N	0.093156	T	0.34135	0.0887	L	0.50333	1.59	0.25923	N	0.983098	B;B	0.26195	0.144;0.089	B;B	0.28232	0.087;0.025	T	0.21690	-1.0238	10	0.30078	T	0.28	-5.4517	7.4597	0.27287	0.268:0.0:0.732:0.0	.	80;80	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	K	80	ENSP00000426043:T80K;ENSP00000370607:T80K;ENSP00000422497:T80K	ENSP00000370607:T80K	T	-	2	0	TECRL	64923532	0.269000	0.24143	0.950000	0.38849	0.985000	0.73830	1.197000	0.32211	0.248000	0.21435	0.585000	0.79938	ACA			0.204	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361705.4		NM_001010874		T	65240937	G	T	65240937	3	4	72	1	0	0	0	0	1	0	0	0	15769	1377	48	3	896	3	TECRL	4	65240937	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	54795287	65240937	125913339	13	5159											
MAPK10	5602	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	87022243	87022243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccccaggatgacctcagggGctctgtaataacgtgtcacc	9	9	10	13	1	3	1	2	1	1	0	4	2	4	2	4	3	1	2	4	3	2	2			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr4:87022243G>T	ENST00000359221.3	-	8	1218	c.692C>A	c.(691-693)gCc>gAc	p.A231D	MAPK10_ENST00000395160.3_Missense_Mutation_p.A86D|MAPK10_ENST00000395161.2_Missense_Mutation_p.A231D|MAPK10_ENST00000449047.2_Missense_Mutation_p.A86D|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000361569.2_Missense_Mutation_p.A231D|MAPK10_ENST00000395169.3_Missense_Mutation_p.A193D|MAPK10_ENST00000395166.1_Missense_Mutation_p.A193D|MAPK10_ENST00000395157.3_Missense_Mutation_p.A86D			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	231	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)	p.A231V(1)|p.A86V(1)		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)		GACCTCAGGGGCTCTGTAATA	0.498																																					p.A231D													MAPK10_ENST00000449047,NS,carcinoma,0,3	MAPK10_ENST00000449047	0	3	2	Substitution - Missense(2)	prostate(2)	c.C692A												132	114	120					4																	87022243		2203	4300	6503	SO:0001583	missense	5602	exon8			TCAGGGGCTCTGT	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.692C>A	4.37:g.87022243G>T	ENSP00000352157:p.Ala231Asp		130	0	0		155	0.21	33	NM_002753	5	0.4	2	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.425782|5.425782	0.96131|0.96131	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161|ENST00000515400	D;D;D;D;D;D;D;D|.	0.92048|.	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96|.	6.03|6.03	6.03|6.03	0.97812|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|D	0.88358|0.88358	0.6415|0.6415	H|H	0.95079|0.95079	3.62|3.62	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.67145|.	0.982;0.982;0.987;0.996;0.994|.	D;D;D;D;D|.	0.85130|.	0.957;0.942;0.989;0.993;0.997|.	D|D	0.90560|0.90560	0.4515|0.4515	10|5	0.87932|.	D|.	0|.	-15.6172|-15.6172	20.5752|20.5752	0.99366|0.99366	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	117;86;193;231;231|.	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779|.	.;.;.;.;MK10_HUMAN|.	D|R	193;231;86;231;193;86;86;231|143	ENSP00000378598:A193D;ENSP00000352157:A231D;ENSP00000378586:A86D;ENSP00000355297:A231D;ENSP00000378595:A193D;ENSP00000378589:A86D;ENSP00000414469:A86D;ENSP00000378590:A231D|.	ENSP00000352157:A231D|.	A|S	-|-	2|3	0|2	MAPK10|MAPK10	87241267|87241267	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	9.869000|9.869000	0.99810|0.99810	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GCC|AGC			0.498	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000361363.2				T	87022243	G	T	87022243	3	4	72	1	0	0	0	0	1	0	0	0	9288	1203	42	2	735	2	MAPK10	4	87022243	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	21781306	87022243	104132033	14	5160											
KIAA0947	23379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	5462346	5462346	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgaaaatatcctcatcCaaaaccaagacattgtgaga	16	9	5	11	0	1	3	1	2	0	2	4	4	4	3	4	0	1	0	4	0	6	2			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr5:5462346C>T	ENST00000296564.7	+	13	3121	c.2899C>T	c.(2899-2901)Caa>Taa	p.Q967*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		967					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						TATCCTCATCCAAAACCAAGA	0.443																																					p.Q967X													.	.			0			c.C2899T												24	25	24					5																	5462346		1960	4176	6136	SO:0001587	stop_gained	23379	exon13			CTCATCCAAAACC																												ENST00000296564.7:c.2899C>T	5.37:g.5462346C>T	ENSP00000296564:p.Gln967*		132	0	0		124	0.41	51	NM_015325	0		0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	c	40	8.273777	0.98737	.	.	ENSG00000164151	ENST00000296564	.	.	.	4.73	3.86	0.44501	.	0.913316	0.09404	N	0.806808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.2195	9.1927	0.37209	0.0:0.8967:0.0:0.1033	.	.	.	.	X	967	.	ENSP00000296564:Q967X	Q	+	1	0	KIAA0947	5515346	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	0.262000	0.18460	1.108000	0.41662	0.461000	0.40582	CAA			0.443	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365575.1				T	5462346	C	T	5462346	4	4	72	1	0	0	0	0	0	1	0	0	8217	595	21	3	2949	3	KIAA0947	5	5462346	Nonsense_Mutation	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10		5462346	175452914	15	5161											
CAMK4	814	mdanderson.org	37	chr5	110819954	110819954	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagccttagagaaagttaaAggtgcagatataaatgctga	17	9	10	5	0	0	3	0	1	0	2	0	4	0	3	1	1	3	3	1	1	8	4			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr5:110819954A>G	ENST00000282356.4	+	11	1610	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.K404K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	404					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGAAAGTTAAAGGTGCAGATA	0.527																																					p.K404K													.	.			0			c.A1212G												57	61	59					5																	110819954		2202	4300	6502	SO:0001819	synonymous_variant	814	exon11			AGTTAAAGGTGCA	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1212A>G	5.37:g.110819954A>G			75	0	0		47	0.06	3	NM_001744	6	0	0	D3DSZ7	Silent	SNP	ENST00000282356.4	37	CCDS4103.1																																																																																					0.527	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250719.2		NM_001744		G	110819954	A	G	110819954	2	3	72	1	0	0	0	0	0	0	0	1	2607	69	3	4		4	CAMK4	5	110819954	Silent	SNP	A	TCGA-2G-AALT-01A-11D-A42Y-10	105357608	110819954	70095306	16	5162											
TCERG1	10915	hgsc.bcm.edu;broad.mit.edu	37	chr5	145838663	145838664	+	In_Frame_Ins	INS	-	-	CCCAGG																															ggcccaggcccaggcccaggINScccaggcccaagcccaagcc																										TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr5:145838663_145838664insCCCAGG	ENST00000296702.5	+	4	693_694	c.655_656insCCCAGG	c.(655-657)gcc>gCCCAGGcc	p.219_219A>AQA	TCERG1_ENST00000394421.2_In_Frame_Ins_p.219_219A>AQA	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	219	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ccaggcccaggcccaggcccaa	0.723																																					p.A219delinsAQA													.	TCERG1	148		0			c.655_656insCCCAGG																																									SO:0001652	inframe_insertion	10915	exon4			GCCCAGGCCCAGG	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.656_661dupCCCAGG	5.37:g.145838664_145838669dupCCCAGG	ENSP00000296702:p.GlnAla241dup		128	0	0		135	0.31	42	NM_006706	2	0	0	Q2NKN2|Q59EA1	In_Frame_Ins	INS	ENST00000296702.5	37	CCDS4282.1																																																																																					0.723	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251886.1		NM_001040006		CCCAGG	145838664	-	CCCAGG	145838663	7	5	72	1	0	1	1	0	0	0	0	0	15708	1203	42	0	669	0	TCERG1	5	145838663	In_Frame_Ins	INS	-	TCGA-2G-AALT-01A-11D-A42Y-10	35018709	145838663	35076597	17	5163											
HIST1H2AA	221613	broad.mit.edu;mdanderson.org	37	chr6	25726743	25726743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttcctccctgcttccCtcgtccagacatctcctcgc	3	14	5	19	2	1	1	0	0	1	1	8	1	5	1	5	0	2	2	5	0	0	3			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr6:25726743C>T	ENST00000297012.3	-	1	47	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	5						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCCTGCTTCCCTCGTCCAGAC	0.527																																					p.G5R													HIST1H2AA,NS,malignant_melanoma,+2,2	HIST1H2AA	34	2	0			c.G13A												473	365	401					6																	25726743		2203	4300	6503	SO:0001583	missense	221613	exon1			GCTTCCCTCGTCC	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.13G>A	6.37:g.25726743C>T	ENSP00000297012:p.Gly5Arg		70	0	0		63	0.05	3	NM_170745	0		0		Missense_Mutation	SNP	ENST00000297012.3	37	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172224	0.21704	.	.	ENSG00000164508	ENST00000297012	T	0.43688	0.94	3.34	-2.07	0.07276	Histone-fold (2);Histone H2A (1);	0.272209	0.23710	N	0.045340	T	0.26593	0.0650	M	0.94101	3.495	0.09310	N	0.999996	B	0.12630	0.006	B	0.04013	0.001	T	0.36792	-0.9733	10	0.62326	D	0.03	.	4.582	0.12264	0.1472:0.4759:0.0:0.377	.	5	Q96QV6	H2A1A_HUMAN	R	5	ENSP00000297012:G5R	ENSP00000297012:G5R	G	-	1	0	HIST1H2AA	25834722	0.001000	0.12720	0.000000	0.03702	0.044000	0.14063	1.471000	0.35365	-0.493000	0.06678	0.555000	0.69702	GGG			0.527	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040065.1		NM_170745		T	25726743	C	T	25726743	3	4	72	1	0	0	0	0	1	0	0	0	7143	681	24	3	386	3	HIST1H2AA	6	25726743	Missense_Mutation	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10		25726743	145388324	18	5164											
SP8	221833	mdanderson.org	37	chr7	20824970	20824970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgccgccgccgcCgctgcccccggaaactccgg	3	2	12	24	8	0	0	0	0	0	0	1	1	1	1	10	2	2	1	10	2	1	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr7:20824970C>T	ENST00000361443.4	-	3	649	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	SP8_ENST00000418710.2_Missense_Mutation_p.G156S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	138					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ccgccgccgccgctgcccccg	0.761																																					p.G156S													.	.			0			c.G466A																																									SO:0001583	missense	221833	exon2			CGCCGCCGCTGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.412G>A	7.37:g.20824970C>T	ENSP00000354482:p.Gly138Ser		59	0	0		71	0.06	4	NM_182700	0		0	Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435495	0.12045	.	.	ENSG00000164651	ENST00000418710;ENST00000361443	D;D	0.81821	-1.54;-1.54	3.09	2.16	0.27623	.	0.366549	0.17990	U	0.155235	T	0.58308	0.2113	N	0.08118	0	0.31008	N	0.719562	D;D	0.55605	0.972;0.972	B;B	0.41860	0.368;0.368	T	0.60005	-0.7347	10	0.08837	T	0.75	.	10.7467	0.46185	0.1919:0.8081:0.0:0.0	.	138;138	Q7Z615;Q8IXZ3	.;SP8_HUMAN	S	156;138	ENSP00000408792:G156S;ENSP00000354482:G138S	ENSP00000354482:G138S	G	-	1	0	SP8	20791495	.	.	0.969000	0.41365	0.291000	0.27294	.	.	0.455000	0.26910	0.306000	0.20318	GGC			0.761	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000326904.2				T	20824970	C	T	20824970	3	4	72	1	0	0	0	0	1	0	0	0	14993	652	23	1	1064	1	SP8	7	20824970	Missense_Mutation	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10		20824970	138313693	19	5165											
BAZ1B	9031	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	72892059	72892060	+	Frame_Shift_Del	DEL	TC	TC	-																															ctcttggtcctcataccgctTctgtttttctaatctctcaa																										TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	TC	TC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr7:72892059_72892060delTC	ENST00000339594.4	-	7	2069_2070	c.1731_1732delGA	c.(1729-1734)cagaagfs	p.K578fs	BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.K578fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	578	Lys-rich.				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)				TCATACCGCTTCTGTTTTTCTA	0.436																																					p.578_578del	Esophageal Squamous(112;1167 1561 21085 43672 48228)												.	BAZ1B	147		0			c.1732_1733del																																									SO:0001589	frameshift_variant	9031	exon7			ACCGCTTCTGTTT	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.1731_1732delGA	7.37:g.72892059_72892060delTC	ENSP00000342434:p.Lys578fs		173	0	0		200	0.15	30	NM_032408	4	0	0	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Frame_Shift_Del	DEL	ENST00000339594.4	37	CCDS5549.1																																																																																					0.436	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252123.4		NM_032408		-	72892060	TC	-	72892059	7	5	72	1	0	1	0	1	0	0	0	0	1330	1792	62	0	2771	0	BAZ1B	7	72892059	Frame_Shift_Del	DEL	TC	TCGA-2G-AALT-01A-11D-A42Y-10	52067089	72892059	86246604	20	5166											
ZNF777	27153	mdanderson.org	37	chr7	149128883	149128883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgctcactcgcccgtgtggGtccgcaggtggtacttgagc	4	9	15	13	4	1	1	1	1	0	0	3	1	2	1	2	3	2	3	2	3	1	2			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr7:149128883G>T	ENST00000247930.4	-	6	2803	c.2480C>A	c.(2479-2481)aCc>aAc	p.T827N		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	743					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)			GCCCGTGTGGGTCCGCAGGTG	0.771																																					p.T827N													.	.			0			c.C2480A												11	13	13					7																	149128883		2169	4268	6437	SO:0001583	missense	27153	exon6			GTGTGGGTCCGCA	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.2480C>A	7.37:g.149128883G>T	ENSP00000247930:p.Thr827Asn		8	0	0		11	0.27	3	NM_015694	7	0	0	Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688613	0.48097	.	.	ENSG00000196453	ENST00000247930	T	0.07800	3.16	4.51	3.63	0.41609	.	.	.	.	.	T	0.18045	0.0433	.	.	.	0.29442	N	0.859062	P	0.52463	0.953	P	0.55260	0.772	T	0.02526	-1.1146	8	0.59425	D	0.04	-16.0071	10.206	0.43114	0.0993:0.0:0.9006:0.0	.	827	Q9ULD5-2	.	N	827	ENSP00000247930:T827N	ENSP00000247930:T827N	T	-	2	0	ZNF777	148759816	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.636000	0.46545	0.887000	0.36136	-0.339000	0.08088	ACC			0.771	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352708.1		NM_015694		T	149128883	G	T	149128883	3	4	72	1	0	0	0	0	1	0	0	0	18173	1261	44	3	19	3	ZNF777	7	149128883	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	76236824	149128883	10009780	21	5167											
PLEC	5339	mdanderson.org	37	chr8	145001861	145001861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagtcgctcccccaccTcctgtgccccccgcagctca	4	7	8	22	2	1	0	1	0	0	0	4	0	3	0	7	0	3	5	7	0	0	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr8:145001861T>C	ENST00000322810.4	-	27	4053	c.3884A>G	c.(3883-3885)gAg>gGg	p.E1295G	PLEC_ENST00000357649.2_Missense_Mutation_p.E1162G|PLEC_ENST00000436759.2_Missense_Mutation_p.E1185G|PLEC_ENST00000527096.1_Missense_Mutation_p.E1181G|PLEC_ENST00000345136.3_Missense_Mutation_p.E1158G|PLEC_ENST00000354589.3_Missense_Mutation_p.E1158G|PLEC_ENST00000356346.3_Missense_Mutation_p.E1144G|PLEC_ENST00000354958.2_Missense_Mutation_p.E1136G|PLEC_ENST00000398774.2_Missense_Mutation_p.E1126G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1295	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						CTCCCCCACCTCCTGTGCCCC	0.721																																					p.E1295G													.	.			0			c.A3884G												5	6	6					8																	145001861		1998	4051	6049	SO:0001583	missense	5339	exon27			CCCACCTCCTGTG	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.3884A>G	8.37:g.145001861T>C	ENSP00000323856:p.Glu1295Gly		34	0	0		37	0.08	3	NM_201380	0		0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826359	0.32329	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.44	4.25	0.50352	.	0.092481	0.40469	U	0.001089	T	0.34890	0.0913	L	0.46157	1.445	0.38215	D	0.940584	P;P;P;P;P;P;P;P	0.38078	0.617;0.617;0.617;0.483;0.617;0.617;0.617;0.617	B;B;B;B;B;B;B;B	0.39660	0.306;0.306;0.306;0.162;0.306;0.306;0.306;0.306	T	0.31971	-0.9924	10	0.66056	D	0.02	.	12.1384	0.53984	0.0:0.0:0.1436:0.8564	.	1185;1144;1136;1295;1126;1158;1162;1158	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	G	1158;1162;1158;1126;1295;1136;1144;1185;1181	ENSP00000344848:E1158G;ENSP00000350277:E1162G;ENSP00000346602:E1158G;ENSP00000381756:E1126G;ENSP00000323856:E1295G;ENSP00000347044:E1136G;ENSP00000348702:E1144G;ENSP00000388180:E1185G;ENSP00000434583:E1181G	ENSP00000323856:E1295G	E	-	2	0	PLEC	145073849	0.416000	0.25424	1.000000	0.80357	0.658000	0.38924	0.748000	0.26305	0.851000	0.35264	0.519000	0.50382	GAG			0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		C	145001861	T	C	145001861	3	2	72	1	0	0	0	0	1	0	0	0	12069	1551	54	4	10194	4	PLEC	8	145001861	Missense_Mutation	SNP	T	TCGA-2G-AALT-01A-11D-A42Y-10		145001861	1362161	22	5168											
FGD3	89846	mdanderson.org	37	chr9	95797716	95797716	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggcatgtgtggaagctgCagtgggccaagcagtcctgg	7	7	18	9	1	0	0	0	0	0	0	1	1	1	1	2	5	3	4	2	5	2	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr9:95797716C>T	ENST00000375482.3	+	18	2519	c.2023C>T	c.(2023-2025)Cag>Tag	p.Q675*	FGD3_ENST00000337352.6_Nonsense_Mutation_p.Q675*|FGD3_ENST00000416701.2_Nonsense_Mutation_p.Q674*|FGD3_ENST00000538555.1_Nonsense_Mutation_p.Q278*	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	675	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						GTGGAAGCTGCAGTGGGCCAA	0.667																																					p.Q675X													.	.			0			c.C2023T												32	41	38					9																	95797716		2168	4270	6438	SO:0001587	stop_gained	89846	exon18			AAGCTGCAGTGGG	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.2023C>T	9.37:g.95797716C>T	ENSP00000364631:p.Gln675*		82	0	0		67	0.06	4	NM_001083536	18	0	0	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Nonsense_Mutation	SNP	ENST00000375482.3	37	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	41	9.019181	0.99038	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	.	.	.	4.52	3.61	0.41365	.	0.434101	0.17260	N	0.180816	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	7.527	0.27660	0.0:0.8866:0.0:0.1134	.	.	.	.	X	675;674;675;278	.	ENSP00000336914:Q675X	Q	+	1	0	FGD3	94837537	0.065000	0.20965	0.550000	0.28217	0.586000	0.36452	1.597000	0.36729	2.468000	0.83385	0.561000	0.74099	CAG			0.667	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000055493.1		NM_033086		T	95797716	C	T	95797716	4	4	72	1	0	0	0	0	0	1	0	0	5847	711	25	2	2085	2	FGD3	9	95797716	Nonsense_Mutation	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10		95797716	45415715	23	5169											
NAIF1	203245	mdanderson.org	37	chr9	130829051	130829051	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgccaccactgccaccGcctgtcccaggccccccagc	6	3	7	25	2	0	0	0	0	0	0	1	0	1	0	11	1	2	0	11	1	0	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr9:130829051G>T	ENST00000373078.4	-	1	549	c.330C>A	c.(328-330)ggC>ggA	p.G110G	NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373069.5_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	110	Gly-rich.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G110G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACTGCCACCGCCTGTCCCAG	0.706																																					p.G110G													NAIF1,NS,carcinoma,0,1	NAIF1	0	1	1	Substitution - coding silent(1)	endometrium(1)	c.C330A												33	34	34					9																	130829051		2195	4289	6484	SO:0001819	synonymous_variant	203245	exon1			GCCACCGCCTGTC	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.330C>A	9.37:g.130829051G>T			59	0	0		42	0.1	4	NM_197956	2	0	0	B3KV81|Q8WU12	Silent	SNP	ENST00000373078.4	37	CCDS6889.1																																																																																					0.706	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054330.1		NM_197956		T	130829051	G	T	130829051	2	4	72	1	0	0	0	0	0	0	0	1	10162	1074	38	1		1	NAIF1	9	130829051	Silent	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	35031335	130829051	10384380	24	5170											
CSGALNACT2	55454	hgsc.bcm.edu	37	chr10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaatttaatcgtggaCgaggactaaatgtgggtgcc	13	10	13	5	2	0	2	0	1	0	1	1	5	0	4	1	3	1	0	1	3	5	3	rs76607193	byFrequency	TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					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)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																					p.R347X													CSGALNACT2,trunk,malignant_melanoma,0,1	CSGALNACT2	0	1	1	Substitution - Nonsense(1)	skin(1)	c.C1039T												191	181	184					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454	exon5			CGTGGACGAGGAC	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.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*		122	0	0		119	0.04	5	NM_018590	5	0	0	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA	0.003		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047693.1		NM_018590		T	43659372	C	T	43659372	4	4	72	1	0	0	0	0	0	1	0	0	3941	528	19	1	1053	1	CSGALNACT2	10	43659372	Nonsense_Mutation	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10		43659372	91875375	25	5171											
HPS6	79803	mdanderson.org	37	chr10	103826001	103826001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccggaccctgctccgagGccttcctgggttgctgtccc	2	11	11	17	2	0	0	0	0	0	0	4	2	4	1	6	3	2	3	6	3	0	3	rs373015076		TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr10:103826001G>T	ENST00000299238.5	+	1	855	c.770G>T	c.(769-771)gGc>gTc	p.G257V		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	257					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTGCTCCGAGGCCTTCCTGGG	0.632									Hermansky-Pudlak syndrome																												p.G257V													.	.			0			c.G770T												54	60	58					10																	103826001		2203	4300	6503	SO:0001583	missense	79803	exon1	Familial Cancer Database	HPS, HPS1-8	TCCGAGGCCTTCC	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.770G>T	10.37:g.103826001G>T	ENSP00000299238:p.Gly257Val		59	0	0		38	0.08	3	NM_024747	8	0	0	Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324901	0.60634	.	.	ENSG00000166189	ENST00000299238	T	0.78595	-1.19	5.52	4.61	0.57282	.	0.222462	0.46442	D	0.000298	T	0.79387	0.4437	L	0.60455	1.87	0.51767	D	0.999934	P	0.41188	0.741	P	0.46825	0.528	T	0.81837	-0.0749	10	0.72032	D	0.01	-4.7213	13.7595	0.62956	0.0735:0.0:0.9265:0.0	.	257	Q86YV9	HPS6_HUMAN	V	257	ENSP00000299238:G257V	ENSP00000299238:G257V	G	+	2	0	HPS6	103815991	0.998000	0.40836	0.994000	0.49952	0.854000	0.48673	5.518000	0.67068	2.579000	0.87056	0.561000	0.74099	GGC			0.632	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050018.2		NM_024747		T	103826001	G	T	103826001	3	4	72	1	0	0	0	0	1	0	0	0	7358	1203	42	2	772	2	HPS6	10	103826001	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	60166629	103826001	31708746	26	5172											
MTCH2	23788	mdanderson.org	37	chr11	47647283	47647283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagggataggtcaacataCtcgcaaaaaactgtaaaatg	19	7	8	7	1	1	0	1	0	0	0	2	1	1	1	0	2	3	2	0	2	9	3			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr11:47647283C>T	ENST00000302503.3	-	11	849	c.692G>A	c.(691-693)aGt>aAt	p.S231N	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Missense_Mutation_p.S83N	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	231					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGTCAACATACTCGCAAAAAA	0.403																																					p.S231N													.	.			0			c.G692A												181	163	169					11																	47647283		2201	4298	6499	SO:0001583	missense	23788	exon11			AACATACTCGCAA	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.692G>A	11.37:g.47647283C>T	ENSP00000303222:p.Ser231Asn		75	0	0		47	0.06	3	NM_014342	112	0	0	B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899271	0.52227	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428	T;T;T	0.79352	-1.26;0.78;-1.26	5.59	5.59	0.84812	Mitochondrial carrier domain (2);	0.038122	0.85682	D	0.000000	T	0.74906	0.3778	L	0.52364	1.645	0.52099	D	0.999942	B	0.27679	0.185	B	0.29942	0.109	T	0.72225	-0.4355	10	0.45353	T	0.12	-15.7775	16.5628	0.84570	0.0:1.0:0.0:0.0	.	231	Q9Y6C9	MTCH2_HUMAN	N	231;83;222	ENSP00000303222:S231N;ENSP00000439013:S83N;ENSP00000432043:S222N	ENSP00000303222:S231N	S	-	2	0	MTCH2	47603859	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.002000	0.57053	2.648000	0.89879	0.485000	0.47835	AGT			0.403	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391921.2		NM_014342		T	47647283	C	T	47647283	3	4	72	1	0	0	0	0	1	0	0	0	9930	565	20	3	231	3	MTCH2	11	47647283	Missense_Mutation	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10		47647283	87359233	27	5173											
SPTBN2	6712	mdanderson.org	37	chr11	66454940	66454940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctccatctcctgcttgCggcacagcatcccctccatc	6	9	7	19	1	1	0	0	0	1	0	6	0	4	0	6	2	3	3	6	2	0	1	rs370257588		TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr11:66454940C>T	ENST00000533211.1	-	35	7011	c.6680G>A	c.(6679-6681)cGc>cAc	p.R2227H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2227H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2227H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2227	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CTCCTGCTTGCGGCACAGCAT	0.642																																					p.R2227H													.	.			0			c.G6680A							C	HIS/ARG	0,4398		0,0,2199	67	71	70		6680	4.6	1	11		70	1,8589	1.2+/-3.3	0,1,4294	no	missense	SPTBN2	NM_006946.2	29	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2227/2391	66454940	1,12987	2199	4295	6494	SO:0001583	missense	6712	exon34			TGCTTGCGGCACA	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.6680G>A	11.37:g.66454940C>T	ENSP00000432568:p.Arg2227His		26	0	0		18	0.11	2	NM_006946	4	0	0	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924473	0.73213	0.0	1.16E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.35236	1.32;1.32;1.32	4.6	4.6	0.57074	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000003	T	0.68081	0.2962	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77104	-0.2711	10	0.87932	D	0	.	16.3781	0.83412	0.0:1.0:0.0:0.0	.	2227	O15020	SPTN2_HUMAN	H	2227;2227;2227;771	ENSP00000432568:R2227H;ENSP00000311489:R2227H;ENSP00000433593:R2227H	ENSP00000311489:R2227H	R	-	2	0	SPTBN2	66211516	1.000000	0.71417	0.999000	0.59377	0.126000	0.20510	7.463000	0.80869	2.396000	0.81511	0.655000	0.94253	CGC			0.642	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393892.2		NM_006946		T	66454940	C	T	66454940	3	4	72	1	0	0	0	0	1	0	0	0	15143	768	27	1	508	1	SPTBN2	11	66454940	Missense_Mutation	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10	18807657	66454940	68551576	28	5174											
ANO1	55107	mdanderson.org	37	chr11	70026139	70026139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaatatcctcagaggcattGggaagcttgctgtcatcatc	11	11	9	10	0	3	1	3	0	0	1	5	2	4	2	1	2	2	3	1	2	3	3			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr11:70026139G>T	ENST00000355303.5	+	23	2685	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	ANO1_ENST00000398543.2_Missense_Mutation_p.G648W|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Missense_Mutation_p.G503W|ANO1_ENST00000538023.1_Missense_Mutation_p.G794W|ANO1_ENST00000530676.1_Missense_Mutation_p.G648W	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	794					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)	CAGAGGCATTGGGAAGCTTGC	0.527																																					p.G794W													.	.			0			c.G2380T												132	127	128					11																	70026139		1918	4128	6046	SO:0001583	missense	55107	exon23			GGCATTGGGAAGC	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.2380G>T	11.37:g.70026139G>T	ENSP00000347454:p.Gly794Trp		52	0	0		36	0.08	3	NM_018043	3	0	0	A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630691	0.67015	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.41	3.48	0.39840	.	0.343710	0.29579	N	0.011747	D	0.83289	0.5222	M	0.89601	3.045	0.49483	D	0.999799	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86356	0.1714	9	.	.	.	.	12.6356	0.56681	0.0828:0.0:0.9171:0.0	.	503;794	E9PNA7;Q5XXA6	.;ANO1_HUMAN	W	794;794;648;552;648;503;121	ENSP00000347454:G794W;ENSP00000444689:G794W;ENSP00000381551:G648W;ENSP00000435797:G648W;ENSP00000432843:G503W	.	G	+	1	0	ANO1	69703787	1.000000	0.71417	0.950000	0.38849	0.903000	0.53119	3.267000	0.51577	2.018000	0.59344	0.462000	0.41574	GGG			0.527	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000393685.1		NM_018043		T	70026139	G	T	70026139	3	4	72	1	0	0	0	0	1	0	0	0	695	1348	47	3	2470	3	ANO1	11	70026139	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	3571199	70026139	64980377	29	5175											
CPM	1368	broad.mit.edu	37	chr12	69264140	69264140	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattatattcaaaagcatcGgggaaatttcgattcaagtc	14	14	7	6	2	2	0	2	0	0	0	5	2	2	1	0	2	1	1	0	2	7	6			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr12:69264140G>T	ENST00000551568.1	-	5	531	c.471C>A	c.(469-471)ccC>ccA	p.P157P	CPM_ENST00000546373.1_Silent_p.P157P|CPM_ENST00000338356.3_Silent_p.P157P	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	157					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CAAAAGCATCGGGGAAATTTC	0.398																																					p.P157P													.	CPM	30		0			c.C471A												76	78	78					12																	69264140		2203	4300	6503	SO:0001819	synonymous_variant	1368	exon5			AGCATCGGGGAAA	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.471C>A	12.37:g.69264140G>T			60	0	0		87	0.05	4	NM_001005502	0		0	B2R800|Q9H2K9	Silent	SNP	ENST00000551568.1	37	CCDS8987.1																																																																																					0.398	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403355.1		NM_198320		T	69264140	G	T	69264140	2	4	72	1	0	0	0	0	0	0	0	1	3810	1103	39	1		1	CPM	12	69264140	Silent	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10		69264140	64587755	30	5176											
TAOK3	51347	mdanderson.org	37	chr12	118590215	118590215	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcctcatctagccgtaaCtgcggacacagaagacacac	13	6	9	13	2	2	3	1	1	1	2	2	4	2	4	2	1	4	1	2	1	3	2			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr12:118590215C>A	ENST00000392533.3	-	20	2843		c.e20-1		TAOK3_ENST00000536979.1_5'UTR|TAOK3_ENST00000537952.1_Splice_Site|TAOK3_ENST00000419821.2_Splice_Site|TAOK3_ENST00000543709.1_Splice_Site	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAGCCGTAACTGCGGACACA	0.532																																					.													.	.			0			c.2353-1G>T												103	84	90					12																	118590215		2203	4300	6503	SO:0001630	splice_region_variant	51347	exon21			CCGTAACTGCGGA	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2353-1G>T	12.37:g.118590215C>A			39	0	0		44	0.07	3	NM_016281	1	0	0	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Splice_Site	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841333	0.71488	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9339	0.79686	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAOK3	117074598	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.619000	0.83057	2.418000	0.82041	0.460000	0.39030	.			0.532	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401456.2		NM_016281	Intron	A	118590215	C	A	118590215	5	1	72	1	0	0	0	0	0	0	1	0	15572	579	20	3	352	3	TAOK3	12	118590215	Splice_Site	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10	49326075	118590215	15261680	31	5177											
PDX1	3651	broad.mit.edu	37	chr13	28494404	28494404	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgggccgccagcccccGccgccgccgccgcacccgtt	4	4	11	22	7	0	0	0	0	0	0	0	0	0	0	9	1	2	2	9	1	1	2			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr13:28494404G>C	ENST00000381033.4	+	1	248	c.129G>C	c.(127-129)ccG>ccC	p.P43P	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0					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)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		gccagcccccgccgccgccgc	0.761																																					p.P43P													.	PDX1	7		0			c.G129C												2	2	2					13																	28494404		1135	2350	3485	SO:0001819	synonymous_variant	3651	exon1			GCCCCCGCCGCCG	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"Homeoboxes / ANTP class : HOXL subclass"	6107	protein-coding gene	gene with protein product	"somatostatin transcription factor 1"	600733	"insulin promoter factor 1, homeodomain transcription factor"	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.129G>C	13.37:g.28494404G>C			95	0.0105263158	1		97	0.04	4	NM_000209	0		0	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000381033.4	37	CCDS9327.1																																																																																					0.761	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044310.2		NM_000209		C	28494404	G	C	28494404	2	2	72	1	0	0	0	0	0	0	0	1	11712	1074	38	5		5	PDX1	13	28494404	Silent	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10		28494404	86675474	32	5178											
NKX2-8	26257	broad.mit.edu	37	chr14	37050568	37050568	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggagaatagcacccgccGcttcttccttttctcggcgt	5	13	9	14	4	2	1	0	0	2	1	4	2	3	1	3	2	1	2	3	2	2	6			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr14:37050568G>T	ENST00000258829.5	-	2	476	c.259C>A	c.(259-261)Cgg>Agg	p.R87R		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	87					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		AGCACCCGCCGCTTCTTCCTT	0.701																																					p.R87R													.	NKX2-8	13		0			c.C259A												5	7	6					14																	37050568		2114	4213	6327	SO:0001819	synonymous_variant	26257	exon2			CCCGCCGCTTCTT		CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"Homeoboxes / ANTP class : NKL subclass"	16364	protein-coding gene	gene with protein product		603245	"NK-2 homolog H (Drosophila)", "NK2 transcription factor related, locus 8 (Drosophila)"	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.259C>A	14.37:g.37050568G>T			94	0.0106382979	1		97	0.03	3	NM_014360	0		0	Q8IUT7	Silent	SNP	ENST00000258829.5	37	CCDS9660.1																																																																																					0.701	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071844.6				T	37050568	G	T	37050568	2	4	72	1	0	0	0	0	0	0	0	1	10471	1086	38	1		1	NKX2-8	14	37050568	Silent	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10		37050568	70298972	33	5179											
SIX4	51804	mdanderson.org	37	chr14	61190581	61190581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgccgccgccgccactGccccttcctctccgctcacc	2	6	8	25	6	2	0	1	0	1	0	4	0	3	0	10	1	1	1	10	1	0	1			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr14:61190581G>A	ENST00000216513.4	-	1	271	c.212C>T	c.(211-213)gCa>gTa	p.A71V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	71	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		cgccgccactgccCCTTCCTC	0.771																																					p.A71V													.	.			0			c.C212T												5	7	6					14																	61190581		1437	2809	4246	SO:0001583	missense	51804	exon1			GCCACTGCCCCTT	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.212C>T	14.37:g.61190581G>A	ENSP00000216513:p.Ala71Val		19	0	0		21	0.1	2	NM_017420	0		0	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	G	9.721	1.159727	0.21454	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.92048	-2.96	2.99	2.09	0.27110	.	6.588460	0.00805	N	0.001459	D	0.86360	0.5914	N	0.08118	0	0.24640	N	0.993577	P;P	0.51057	0.941;0.903	P;B	0.48488	0.579;0.375	T	0.79222	-0.1892	10	0.46703	T	0.11	.	3.8092	0.08789	0.1359:0.0:0.628:0.2361	.	63;71	G3V2N2;Q9UIU6	.;SIX4_HUMAN	V	71;63	ENSP00000216513:A71V	ENSP00000216513:A71V	A	-	2	0	SIX4	60260334	0.946000	0.32159	0.930000	0.37139	0.667000	0.39255	0.082000	0.14847	0.582000	0.29556	0.551000	0.68910	GCA			0.771	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000072397.2				A	61190581	G	A	61190581	3	1	72	1	0	0	0	0	1	0	0	0	14372	1319	46	2	2145	2	SIX4	14	61190581	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	24140013	61190581	46158959	34	5180											
HIF1A	3091	mdanderson.org	37	chr14	62162532	62162532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgattcaccatggagggcGccggcggcgcgaacgacaag	10	3	15	13	7	1	0	1	0	0	0	1	4	1	1	3	4	1	0	3	4	2	1			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr14:62162532G>T	ENST00000337138.4	+	1	275	c.10G>T	c.(10-12)Gcc>Tcc	p.A4S	HIF1A_ENST00000323441.6_Missense_Mutation_p.A4S|HIF1A_ENST00000394997.1_Missense_Mutation_p.A4S|HIF1A-AS1_ENST00000557544.1_lincRNA|HIF1A_ENST00000557538.1_5'Flank|HIF1A_ENST00000539097.1_5'Flank	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	4	Interaction with TSGA10. {ECO:0000250}.				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)	CATGGAGGGCGCCGGCGGCGC	0.726																																					p.A4S													.	.			0			c.G10T												20	25	23					14																	62162532		2191	4288	6479	SO:0001583	missense	3091	exon1			GAGGGCGCCGGCG	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.10G>T	14.37:g.62162532G>T	ENSP00000338018:p.Ala4Ser		57	0	0		46	0.07	3	NM_001530	4	0	0	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483857	0.63962	.	.	ENSG00000100644	ENST00000337138;ENST00000394997;ENST00000323441	T;T;T	0.53640	0.73;0.7;0.61	4.61	4.61	0.57282	.	1.010150	0.07928	N	0.976991	T	0.36552	0.0971	N	0.00483	-1.445	0.80722	D	1	D;B;B	0.63880	0.993;0.007;0.007	D;B;B	0.69479	0.964;0.005;0.005	T	0.50294	-0.8845	10	0.27082	T	0.32	.	12.7932	0.57545	0.0:0.0:1.0:0.0	.	4;4;4	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	S	4	ENSP00000338018:A4S;ENSP00000378446:A4S;ENSP00000323326:A4S	ENSP00000323326:A4S	A	+	1	0	HIF1A	61232285	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.495000	0.45337	2.397000	0.81536	0.491000	0.48974	GCC			0.726	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000276977.2		NM_001530		T	62162532	G	T	62162532	3	4	72	1	0	0	0	0	1	0	0	0	7118	1087	38	1	12	1	HIF1A	14	62162532	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	971951	62162532	45187008	35	5181											
C14orf118	55668	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	76644260	76644261	+	Intron	DEL	AG	AG	-																															ggttaccatcagctgggaaaAgagaacgaaatcaggtaaga																										TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr14:76644260_76644261delAG	ENST00000261530.7	+	7	1118				GPATCH2L_ENST00000312858.5_Frame_Shift_Del_p.R360fs|GPATCH2L_ENST00000553588.1_5'Flank	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like																		AGCTGGGAAAAGAGAACGAAAT	0.337																																					p.359_360del													.	.			0			c.1077_1078del																																									SO:0001627	intron_variant	55668	exon7			GGGAAAAGAGAAC	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1053-70AG>-	14.37:g.76644262_76644263delAG			109	0	0		144	0.19	28	NM_017972	0		0	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Frame_Shift_Del	DEL	ENST00000261530.7	37	CCDS9848.1																																																																																					0.337	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000413698.2		NM_017926		-	76644261	AG	-	76644260	6	5	72	0	1	1	0	1	0	0	0	0	1743	64	3	0		0	C14orf118	14	76644260	Intron	DEL	AG	TCGA-2G-AALT-01A-11D-A42Y-10	14481728	76644260	30705280	36	5182											
JAG2	3714	mdanderson.org	37	chr14	105615089	105615089	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaacactcactggtgtcGcagagctcgccctcccagcc	7	7	10	17	2	1	1	1	0	0	1	4	2	2	2	3	2	3	2	3	2	1	0	rs370664484		TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr14:105615089G>T	ENST00000331782.3	-	15	2416	c.2013C>A	c.(2011-2013)tgC>tgA	p.C671*	JAG2_ENST00000347004.2_Nonsense_Mutation_p.C633*	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	671	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CACTGGTGTCGCAGAGCTCGC	0.682																																					p.C671X													.	.			0			c.C2013A												21	17	19					14																	105615089		2150	4251	6401	SO:0001587	stop_gained	3714	exon15			GGTGTCGCAGAGC	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2013C>A	14.37:g.105615089G>T	ENSP00000328169:p.Cys671*		28	0	0		55	0.05	3	NM_002226	4	0	0	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Nonsense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	43	9.920542	0.99295	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	.	.	.	4.37	-4.26	0.03755	.	0.107041	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6278	0.56640	0.7591:0.0:0.2409:0.0	.	.	.	.	X	671;633	.	ENSP00000328169:C671X	C	-	3	2	JAG2	104686134	0.286000	0.24305	0.974000	0.42286	0.991000	0.79684	-0.154000	0.10130	-0.916000	0.03818	0.555000	0.69702	TGC			0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276506.2				T	105615089	G	T	105615089	4	4	72	1	0	0	0	0	0	1	0	0	7950	1079	38	1	1751	1	JAG2	14	105615089	Nonsense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	28970829	105615089	1734451	37	5183											
DNAH2	146754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7727167	7727167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaggtgagtgggaaaatgCctgcaatgaaatgcaacgga	14	6	13	8	1	0	2	0	2	0	0	0	4	0	4	2	3	4	2	2	3	5	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr17:7727167C>A	ENST00000572933.1	+	75	12805	c.11345C>A	c.(11344-11346)gCc>gAc	p.A3782D	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3782D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3782					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)				TGGGAAAATGCCTGCAATGAA	0.592																																					p.A3782D													.	.			0			c.C11345A												88	77	81					17																	7727167		2203	4300	6503	SO:0001583	missense	146754	exon74			AAAATGCCTGCAA	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.11345C>A	17.37:g.7727167C>A	ENSP00000458355:p.Ala3782Asp		70	0	0		84	0.17	14	NM_020877	0		0	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157662	0.38119	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08282	3.11	4.96	4.96	0.65561	Dynein heavy chain (1);	0.358596	0.29293	N	0.012579	T	0.09555	0.0235	L	0.31420	0.93	0.80722	D	1	B;B	0.19935	0.032;0.04	B;B	0.29440	0.062;0.102	T	0.21518	-1.0243	10	0.37606	T	0.19	.	16.9608	0.86272	0.0:1.0:0.0:0.0	.	3743;3782	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3743;3782	ENSP00000373825:A3782D	ENSP00000353818:A3743D	A	+	2	0	DNAH2	7667892	0.031000	0.19500	0.999000	0.59377	0.997000	0.91878	1.900000	0.39828	2.309000	0.77851	0.609000	0.83330	GCC			0.592	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440241.1		NM_020877		A	7727167	C	A	7727167	3	1	72	1	0	0	0	0	1	0	0	0	4607	739	26	2	11639	2	DNAH2	17	7727167	Missense_Mutation	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10		7727167	73468043	38	5184											
SREBF1	6720	mdanderson.org	37	chr17	17716904	17716904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcatggcgggccggaaGctctgtgccagccgcctcag	5	6	14	16	4	2	0	1	0	1	0	3	1	3	1	5	3	3	2	5	3	1	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr17:17716904G>T	ENST00000261646.5	-	17	3265	c.3081C>A	c.(3079-3081)agC>agA	p.S1027R	SREBF1_ENST00000395757.1_Missense_Mutation_p.S773R|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000338854.5_Missense_Mutation_p.S1027R|SREBF1_ENST00000355815.4_Missense_Mutation_p.S1057R	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1027					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						CGGGCCGGAAGCTCTGTGCCA	0.692																																					p.S1057R													.	.			0			c.C3171A												7	10	9					17																	17716904		2159	4256	6415	SO:0001583	missense	6720	exon18			CCGGAAGCTCTGT	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.3081C>A	17.37:g.17716904G>T	ENSP00000261646:p.Ser1027Arg		24	0	0		19	0.16	3	NM_001005291	71	0.01	1	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.419490|4.419490	0.83559|0.83559	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	.|T;T;T;T	.|0.20069	.|2.1;2.1;2.1;2.1	5.47|5.47	3.46|3.46	0.39613|0.39613	.|.	.|0.342781	.|0.33670	.|N	.|0.004669	T|T	0.27866|0.27866	0.0686|0.0686	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.51791	.|0.716;0.944;0.948	.|B;P;P	.|0.51135	.|0.319;0.603;0.66	T|T	0.01528|0.01528	-1.1332|-1.1332	5|10	.|0.48119	.|T	.|0.1	-8.8478|-8.8478	7.703|7.703	0.28634|0.28634	0.1526:0.1342:0.7132:0.0|0.1526:0.1342:0.7132:0.0	.|.	.|1027;1057;646	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	I|R	1035|1027;1057;1027;773;646;864;953	.|ENSP00000345822:S1027R;ENSP00000348069:S1057R;ENSP00000261646:S1027R;ENSP00000379106:S773R	.|ENSP00000261646:S1027R	L|S	-|-	1|3	0|2	SREBF1|SREBF1	17657629|17657629	0.976000|0.976000	0.34144|0.34144	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.715000|1.715000	0.37971|0.37971	0.655000|0.655000	0.30866|0.30866	0.561000|0.561000	0.74099|0.74099	CTT|AGC			0.692	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131771.1		NM_004176		T	17716904	G	T	17716904	3	4	72	1	0	0	0	0	1	0	0	0	15164	962	34	2	374	2	SREBF1	17	17716904	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	9989737	17716904	63478306	39	5185											
KRT14	3861	mdanderson.org	37	chr17	39743003	39743003	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacggaggagatgcggctGgagccgcccccgatgccgcc	7	3	17	14	5	0	1	0	0	0	1	0	6	0	4	5	5	3	1	5	5	0	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr17:39743003G>A	ENST00000167586.6	-	1	170	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	28	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGATGCGGCTGGAgccgcccc	0.711																																					p.S28S													.	.			0			c.C84T												4	7	6					17																	39743003		2043	4010	6053	SO:0001819	synonymous_variant	3861	exon1			GCGGCTGGAGCCG	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.84C>T	17.37:g.39743003G>A			17	0	0		33	0.09	3	NM_000526	2	0	0	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	CCDS11400.1																																																																																					0.711	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257289.1		NM_000526		A	39743003	G	A	39743003	2	1	72	1	0	0	0	0	0	0	0	1	8466	1335	47	3		3	KRT14	17	39743003	Silent	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	22026099	39743003	41452207	40	5186											
JUP	3728	mdanderson.org	37	chr17	39921060	39921060	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcttgcccagggcctGcatcccacctggggcaggga	6	6	15	14	0	0	0	0	0	0	0	1	1	1	1	4	5	3	3	4	5	0	1			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr17:39921060G>A	ENST00000393931.3	-	7	1181	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	JUP_ENST00000310706.5_Nonsense_Mutation_p.Q355*|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Nonsense_Mutation_p.Q355*	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	355					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCCAGGGCCTGCATCCCACCT	0.672																																					p.Q355X	Colon(16;42 520 6044 17852 28530)												.	.			0			c.C1063T												63	60	61					17																	39921060		2203	4300	6503	SO:0001587	stop_gained	3728	exon7			GGGCCTGCATCCC	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1063C>T	17.37:g.39921060G>A	ENSP00000377508:p.Gln355*		55	0	0		56	0.05	3	NM_021991	101	0	0	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Nonsense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	39	7.765030	0.98477	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.996	18.8398	0.92177	0.0:0.0:1.0:0.0	.	.	.	.	X	355	.	ENSP00000311113:Q355X	Q	-	1	0	JUP	37174586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.856000	0.86956	2.793000	0.96121	0.655000	0.94253	CAG			0.672	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257406.1				A	39921060	G	A	39921060	4	1	72	1	0	0	0	0	0	1	0	0	7987	1328	46	2	1206	2	JUP	17	39921060	Nonsense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	178057	39921060	41274150	41	5187											
CD97	976	mdanderson.org	37	chr19	14515207	14515207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccacaggacgtgatgcctGggccacggcaggagctgctc	7	5	15	14	2	0	1	0	1	0	0	1	3	0	3	3	4	3	3	3	4	0	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr19:14515207G>T	ENST00000242786.5	+	13	1542	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	CD97_ENST00000357355.3_Missense_Mutation_p.G439W|CD97_ENST00000358600.3_Missense_Mutation_p.G395W|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	488					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGTGATGCCTGGGCCACGGCA	0.632																																					p.G488W													.	.			0			c.G1462T												90	96	94					19																	14515207		2202	4298	6500	SO:0001583	missense	976	exon13			ATGCCTGGGCCAC		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1462G>T	19.37:g.14515207G>T	ENSP00000242786:p.Gly488Trp		30	0	0		34	0.09	3	NM_078481	42	0	0	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403503	0.42613	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.72167	-0.63;-0.55;-0.16	5.22	-0.906	0.10524	.	.	.	.	.	T	0.61974	0.2390	N	0.08118	0	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.988	D;D;P	0.66979	0.948;0.948;0.796	T	0.52719	-0.8538	9	0.56958	D	0.05	.	4.6116	0.12406	0.436:0.0:0.4196:0.1444	.	395;439;488	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	W	488;439;395;438	ENSP00000242786:G488W;ENSP00000349918:G439W;ENSP00000351413:G395W	ENSP00000242786:G488W	G	+	1	0	CD97	14376207	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.053000	0.03500	-0.166000	0.10890	-0.345000	0.07892	GGG			0.632	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459821.2		NM_078481		T	14515207	G	T	14515207	3	4	72	1	0	0	0	0	1	0	0	0	3051	1348	47	3	1512	3	CD97	19	14515207	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10		14515207	44613776	42	5188											
MYO9B	4650	mdanderson.org	37	chr19	17309075	17309075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcgacgcatcctcccTcccagacgcagggctgtccc	6	5	11	19	3	0	1	0	0	0	1	4	2	4	1	5	2	0	3	5	2	0	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr19:17309075T>C	ENST00000594824.1	+	24	4343	c.4196T>C	c.(4195-4197)cTc>cCc	p.L1399P	MYO9B_ENST00000397274.2_Missense_Mutation_p.L1399P|MYO9B_ENST00000595618.1_Missense_Mutation_p.L1399P			Q13459	MYO9B_HUMAN	myosin IXB	1399	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						GCATCCTCCCTCCCAGACGCA	0.617																																					p.L1399P													.	.			0			c.T4196C												63	77	72					19																	17309075		2012	4166	6178	SO:0001583	missense	4650	exon24			CCTCCCTCCCAGA		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.4196T>C	19.37:g.17309075T>C	ENSP00000471367:p.Leu1399Pro		67	0	0		60	0.05	3	NM_004145	13	0	0	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	T	9.457	1.092150	0.20471	.	.	ENSG00000099331	ENST00000397274	D	0.84589	-1.87	4.74	-3.79	0.04320	.	1.034310	0.07682	N	0.937321	T	0.62454	0.2429	N	0.08118	0	0.09310	N	1	B;B;B	0.29508	0.13;0.13;0.246	B;B;B	0.25291	0.059;0.059;0.055	T	0.52193	-0.8608	10	0.25106	T	0.35	.	2.5054	0.04644	0.1404:0.1269:0.2021:0.5306	.	1399;1399;1405	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	P	1399	ENSP00000380444:L1399P	ENSP00000380444:L1399P	L	+	2	0	MYO9B	17170075	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.017000	0.12590	-0.414000	0.07495	-0.677000	0.03784	CTC			0.617	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000463236.1				C	17309075	T	C	17309075	3	2	72	1	0	0	0	0	1	0	0	0	10101	1551	54	4	4286	4	MYO9B	19	17309075	Missense_Mutation	SNP	T	TCGA-2G-AALT-01A-11D-A42Y-10	2793868	17309075	41819908	43	5189											
LTBP4	8425	hgsc.bcm.edu;mdanderson.org	37	chr19	41128449	41128449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtgctactttgacacaGcggccccggatgcatgtgac	8	8	14	11	2	0	2	0	2	0	0	0	4	0	4	2	3	4	2	2	3	1	2			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr19:41128449G>T	ENST00000308370.7	+	27	3559	c.3559G>T	c.(3559-3561)Gcg>Tcg	p.A1187S	LTBP4_ENST00000396819.3_Missense_Mutation_p.A1120S|LTBP4_ENST00000204005.9_Missense_Mutation_p.A1150S|LTBP4_ENST00000545697.1_Missense_Mutation_p.A555S|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1188	TB 3.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTTGACACAGCGGCCCCGGA	0.682																																					.													.	.			0			.												35	39	38					19																	41128449		2036	4187	6223	SO:0001583	missense	8425	.			GACACAGCGGCCC	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3559G>T	19.37:g.41128449G>T	ENSP00000311905:p.Ala1187Ser		64	0	0		63	0.06	4	.	180	0	0	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	G	5.465	0.270930	0.10349	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03	3.89	2.84	0.33178	Matrix fibril-associated (2);TGF-beta binding (1);	0.225320	0.22602	N	0.057948	D	0.84902	0.5575	.	.	.	0.22066	N	0.999389	B;P;P;P;P	0.44006	0.058;0.646;0.824;0.688;0.688	B;B;B;B;B	0.38803	0.025;0.132;0.282;0.185;0.185	T	0.74777	-0.3550	9	0.21540	T	0.41	.	10.7116	0.45986	0.099:0.0:0.901:0.0	.	200;408;1120;1188;1150	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	S	1150;555;1187;1120	ENSP00000204005:A1150S;ENSP00000441054:A555S;ENSP00000311905:A1187S;ENSP00000380031:A1120S	ENSP00000204005:A1150S	A	+	1	0	LTBP4	45820289	0.001000	0.12720	0.138000	0.22173	0.921000	0.55340	1.085000	0.30840	0.972000	0.38314	0.462000	0.41574	GCG			0.682	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_003573		T	41128449	G	T	41128449	3	4	72	1	0	0	0	0	1	0	0	0	9092	971	34	2	3956	2	LTBP4	19	41128449	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	23819374	41128449	18000534	44	5190											
ZNF74	7625	broad.mit.edu	37	chr22	20759905	20759905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcaacgcgttcccgagggGggacccttgctggacacacg	8	5	14	14	4	0	0	0	0	0	0	1	3	1	2	2	4	3	3	2	4	1	2			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr22:20759905G>A	ENST00000400451.2	+	5	1096	c.582G>A	c.(580-582)ggG>ggA	p.G194G	ZNF74_ENST00000357502.5_Missense_Mutation_p.G200R|ZNF74_ENST00000356671.5_Silent_p.G194G|ZNF74_ENST00000403682.3_Missense_Mutation_p.G166R|ZNF74_ENST00000405993.1_Silent_p.G162G	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	194					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)			TTCCCGAGGGGGGACCCTTGC	0.667																																					p.G166R													.	ZNF74	54		0			c.G496A												28	34	32					22																	20759905		1960	4149	6109	SO:0001819	synonymous_variant	7625	exon4			CGAGGGGGGACCC	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.582G>A	22.37:g.20759905G>A			110	0	0		114	0.04	4	NM_001256523	2	0	0	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944721	0.18356	.	.	ENSG00000185252	ENST00000403682;ENST00000357502	.	.	.	3.55	-5.74	0.02391	.	1.995260	0.02820	N	0.125498	T	0.48169	0.1485	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.57447	-0.7810	6	0.87932	D	0	-0.9424	11.6169	0.51094	0.1818:0.1328:0.6854:0.0	.	.	.	.	R	166;200	.	ENSP00000350101:G200R	G	+	1	0	ZNF74	19089905	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.369000	0.07533	-1.425000	0.01997	-0.302000	0.09304	GGG			0.667	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319648.2		NM_003426		A	20759905	G	A	20759905	2	1	72	1	0	0	0	0	0	0	0	1	18150	1219	43	3		3	ZNF74	22	20759905	Silent	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10		20759905	30544661	45	5191											
SUSD2	56241	mdanderson.org	37	chr22	24580118	24580118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagtgcaccccaacaaaGtgtcaatgatggagaagagc	14	5	11	11	0	1	3	1	1	0	2	1	4	1	3	3	1	3	1	3	1	4	0			TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chr22:24580118G>T	ENST00000358321.3	+	4	715	c.454G>T	c.(454-456)Gtg>Ttg	p.V152L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	152					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCCCAACAAAGTGTCAATGAT	0.617																																					p.V152L													.	.			0			c.G454T												130	97	108					22																	24580118		2203	4300	6503	SO:0001583	missense	56241	exon4			AACAAAGTGTCAA	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.454G>T	22.37:g.24580118G>T	ENSP00000351075:p.Val152Leu		46	0	0		60	0.05	3	NM_019601	1	0	0	Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410551	0.25465	.	.	ENSG00000099994	ENST00000358321	T	0.09163	3.01	3.6	3.6	0.41247	.	0.160267	0.42682	D	0.000677	T	0.09291	0.0229	L	0.52011	1.625	0.32220	N	0.57538	P	0.38473	0.633	B	0.29353	0.101	T	0.13522	-1.0506	10	0.25751	T	0.34	-27.542	13.2851	0.60239	0.0:0.0:1.0:0.0	.	152	Q9UGT4	SUSD2_HUMAN	L	152	ENSP00000351075:V152L	ENSP00000351075:V152L	V	+	1	0	SUSD2	22910118	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	2.358000	0.44134	2.062000	0.61559	0.444000	0.29173	GTG			0.617	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320088.1		NM_019601		T	24580118	G	T	24580118	3	4	72	1	0	0	0	0	1	0	0	0	15431	1029	36	3	468	3	SUSD2	22	24580118	Missense_Mutation	SNP	G	TCGA-2G-AALT-01A-11D-A42Y-10	3820213	24580118	26724448	46	5192											
CDR1	1038	broad.mit.edu	37	chrX	139866495	139866495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcttccaacaaaggtaCgtcttccagaaaatccacgt	13	11	6	11	2	2	1	0	0	2	1	5	1	5	1	3	1	2	1	3	1	6	4	rs147745826	byFrequency	TCGA-2G-AALT-01A-11D-A42Y-10	TCGA-2G-AALT-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7931e069-fecb-4dd0-aac4-0eb70729e93c	2e330225-3768-4881-a499-65117453697e	g.chrX:139866495C>T	ENST00000370532.2	-	1	228	c.37G>A	c.(37-39)Gta>Ata	p.V13I		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	13	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AACAAAGGTACGTCTTCCAGA	0.418																																					p.V13I													.	CDR1	58		0			c.G37A							C	ILE/VAL	0,3835		0,0,0,1632,571	164	156	159		37	-1.7	0	X	dbSNP_134	159	2,6726		0,1,1,2427,1871	no	missense	CDR1	NM_004065.2	29	0,1,1,4059,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	benign	13/263	139866495	2,10561	2203	4300	6503	SO:0001583	missense	1038	exon1			AAGGTACGTCTTC		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.37G>A	X.37:g.139866495C>T	ENSP00000359563:p.Val13Ile		380	0.0078947368	3		699	0.01	7	NM_004065	0		0	Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359634	0.24598	0.0	2.97E-4	ENSG00000184258	ENST00000370532	T	0.33438	1.41	3.33	-1.7	0.08159	.	.	.	.	.	T	0.13329	0.0323	N	0.24115	0.695	0.09310	N	1	P	0.43826	0.818	B	0.29524	0.103	T	0.17440	-1.0369	8	.	.	.	.	7.585	0.27987	0.0:0.2992:0.0:0.7008	.	13	P51861	CDR1_HUMAN	I	13	ENSP00000359563:V13I	.	V	-	1	0	CDR1	139694161	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-4.204000	0.00274	-0.516000	0.06470	0.544000	0.68410	GTA			0.418	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058583.1		NM_004065		T	139866495	C	T	139866495	3	4	72	1	0	0	0	0	1	0	0	0	3173	536	19	1	755	1	CDR1	23	139866495	Missense_Mutation	SNP	C	TCGA-2G-AALT-01A-11D-A42Y-10		139866495	15404065	47	5193											
NPHP4	261734	mdanderson.org	37	chr1	5969244	5969244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgagttctgcggggcagCgagaactcgaggtactggcg	8	7	18	8	4	1	2	0	1	1	1	2	4	1	2	0	5	4	3	0	5	2	2	rs200462413		TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr1:5969244C>T	ENST00000378156.4	-	12	1736	c.1471G>A	c.(1471-1473)Gct>Act	p.A491T	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	491					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGGGGCAGCGAGAACTCGA	0.612													C|||	1	0.000199681	0	0.0014	5008	,	,		18029	0		0	False		,,,				2504	0				p.A491T													.	.			0			c.G1471A												29	35	33					1																	5969244		1955	4136	6091	SO:0001583	missense	261734	exon12			GGGCAGCGAGAAC	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1471G>A	1.37:g.5969244C>T	ENSP00000367398:p.Ala491Thr		41	0	0		44	0.07	3	NM_015102	3	0	0	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	3.748	-0.052112	0.07362	.	.	ENSG00000131697	ENST00000378156	D	0.87179	-2.22	3.45	-0.483	0.12075	.	0.452378	0.19756	N	0.106781	T	0.59838	0.2223	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.51124	-0.8745	10	0.15499	T	0.54	.	6.3851	0.21556	0.0:0.5493:0.0:0.4507	.	491	O75161	NPHP4_HUMAN	T	491	ENSP00000367398:A491T	ENSP00000367398:A491T	A	-	1	0	NPHP4	5891831	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.091000	0.15046	-0.084000	0.12595	-1.406000	0.01132	GCT	0.001		0.612	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001715.2				T	5969244	C	T	5969244	3	4	73	1	0	0	0	0	1	0	0	0	10598	768	27	1	2885	1	NPHP4	1	5969244	Missense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10		5969244	243281377	1	5194											
GRIK3	2899	broad.mit.edu	37	chr1	37271834	37271834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgtagtcggccgtcagggCcctctggatgccctcctcgt	3	9	13	16	5	2	0	1	0	1	0	5	1	3	1	4	3	1	1	4	3	1	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr1:37271834C>A	ENST00000373091.3	-	14	2201	c.2185G>T	c.(2185-2187)Gcc>Tcc	p.A729S	GRIK3_ENST00000373093.4_Missense_Mutation_p.A729S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	729					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)				GCCGTCAGGGCCCTCTGGATG	0.597																																					p.A729S													.	GRIK3	195		0			c.G2185T												154	125	135					1																	37271834		2203	4300	6503	SO:0001583	missense	2899	exon14			TCAGGGCCCTCTG	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.2185G>T	1.37:g.37271834C>A	ENSP00000362183:p.Ala729Ser		115	0	0		121	0.03	4	NM_000831	0		0	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291932	0.59976	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11495	2.77;2.77	5.48	0.377	0.16198	Ionotropic glutamate receptor (2);	0.550760	0.19678	N	0.108595	T	0.12646	0.0307	L	0.45352	1.415	0.22610	N	0.998933	B;B	0.19073	0.033;0.033	B;B	0.36092	0.217;0.142	T	0.34675	-0.9819	10	0.87932	D	0	.	9.8676	0.41154	0.0:0.45:0.0:0.55	.	729;729	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	729	ENSP00000362183:A729S;ENSP00000362185:A729S	ENSP00000362183:A729S	A	-	1	0	GRIK3	37044421	0.992000	0.36948	0.884000	0.34674	0.877000	0.50540	1.265000	0.33027	0.065000	0.16485	-0.390000	0.06520	GCC			0.597	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012053.1		NM_000831		A	37271834	C	A	37271834	3	1	73	1	0	0	0	0	1	0	0	0	6790	739	26	2	586	2	GRIK3	1	37271834	Missense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	31302590	37271834	211978787	2	5195											
PTPRF	5792	mdanderson.org	37	chr1	44057152	44057152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcatcacctacagcctgCgcgtgcttgccttcaccgcc	5	9	9	18	3	2	0	2	0	0	0	2	0	2	0	5	1	5	2	5	1	1	3			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr1:44057152C>T	ENST00000359947.4	+	9	1799	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	PTPRF_ENST00000372413.3_Missense_Mutation_p.R487C|PTPRF_ENST00000372414.3_Missense_Mutation_p.R487C|PTPRF_ENST00000422171.2_5'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R487C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	487	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTACAGCCTGCGCGTGCTTGC	0.711																																					p.R487C													.	.			0			c.C1459T												10	12	11					1																	44057152		2186	4259	6445	SO:0001583	missense	5792	exon9			AGCCTGCGCGTGC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1459C>T	1.37:g.44057152C>T	ENSP00000353030:p.Arg487Cys		35	0	0		30	0.1	3	NM_002840	32	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.82|14.82	2.648953|2.648953	0.47362|0.47362	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	.|T;T;T;T	.|0.60920	.|0.15;0.15;0.15;0.15	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.34555	.|N	.|0.003868	D|D	0.82618|0.82618	0.5076|0.5076	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.996;0.988	D|D	0.86567|0.86567	0.1845|0.1845	5|10	.|0.87932	.|D	.|0	.|.	19.4657|19.4657	0.94939|0.94939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|143;487;487	.|Q59FI2;P10586-2;P10586	.|.;.;PTPRF_HUMAN	V|C	154;11|487	.|ENSP00000353030:R487C;ENSP00000398822:R487C;ENSP00000361491:R487C;ENSP00000361490:R487C	.|ENSP00000353030:R487C	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43829739|43829739	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.636000|0.636000	0.38137|0.38137	2.961000|2.961000	0.49168|0.49168	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	GCG|CGC			0.711	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000019710.1				T	44057152	C	T	44057152	3	4	73	1	0	0	0	0	1	0	0	0	12824	768	27	1	1485	1	PTPRF	1	44057152	Missense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	6785318	44057152	205193469	3	5196											
SLAMF8	56833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	159799841	159799841	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agactctgtaccattcccgcTtcctgggccgagcccagcta	7	9	9	16	2	1	1	0	0	1	1	3	2	3	1	5	1	3	3	5	1	2	4			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr1:159799841T>G	ENST00000289707.5	+	2	375	c.226T>G	c.(226-228)Ttc>Gtc	p.F76V	SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	76					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)					CCATTCCCGCTTCCTGGGCCG	0.602																																					p.F76V													.	.			0			c.T226G												85	92	90					1																	159799841		2203	4300	6503	SO:0001583	missense	56833	exon2			TCCCGCTTCCTGG	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.226T>G	1.37:g.159799841T>G	ENSP00000289707:p.Phe76Val		89	0	0		113	0.41	46	NM_020125	22	0	0	Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662583	0.67700	.	.	ENSG00000158714	ENST00000289707	T	0.23348	1.91	4.44	4.44	0.53790	.	0.056654	0.64402	D	0.000001	T	0.25044	0.0608	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.02588	-1.1137	10	0.44086	T	0.13	-21.2609	10.0044	0.41949	0.0:0.0:0.0:1.0	.	76	Q9P0V8	SLAF8_HUMAN	V	76	ENSP00000289707:F76V	ENSP00000289707:F76V	F	+	1	0	SLAMF8	158066465	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.714000	0.54889	1.861000	0.53984	0.260000	0.18958	TTC			0.602	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085983.1		NM_020125		G	159799841	T	G	159799841	3	3	73	1	0	0	0	0	1	0	0	0	14393	1609	56	4	232	4	SLAMF8	1	159799841	Missense_Mutation	SNP	T	TCGA-2G-AALW-01A-11D-A42Y-10	115742689	159799841	89450780	4	5197											
IL19	29949	hgsc.bcm.edu;mdanderson.org	37	chr1	207010078	207010078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctcagtagacaaccacgGtctcaggagatgtctgattt	10	11	11	9	1	3	3	2	1	2	2	4	4	3	3	1	2	2	2	1	2	2	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr1:207010078G>T	ENST00000270218.6	+	3	1010	c.71G>T	c.(70-72)gGt>gTt	p.G24V	IL19_ENST00000340758.2_Missense_Mutation_p.G62V	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	24					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GACAACCACGGTCTCAGGAGA	0.458																																					p.G62V													.	.			0			c.G185T												191	180	184					1																	207010078		2203	4300	6503	SO:0001583	missense	29949	exon2			ACCACGGTCTCAG	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.71G>T	1.37:g.207010078G>T	ENSP00000270218:p.Gly24Val		84	0	0		88	0.05	4	NM_153758	0		0	B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000270218.6	37	CCDS1469.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522179	0.27211	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.16457	2.34;2.34	5.4	2.2	0.27929	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.510109	0.22228	N	0.062853	T	0.20455	0.0492	M	0.73962	2.25	0.09310	N	0.999998	P;P;P	0.44006	0.789;0.648;0.824	B;B;B	0.40782	0.229;0.2;0.34	T	0.11518	-1.0584	10	0.87932	D	0	.	8.5509	0.33451	0.0895:0.31:0.6005:0.0	.	24;24;62	B6VEV9;Q9UHD0;Q5VUT3	.;IL19_HUMAN;.	V	62;24	ENSP00000343000:G62V;ENSP00000270218:G24V	ENSP00000270218:G24V	G	+	2	0	IL19	205076701	0.001000	0.12720	0.020000	0.16555	0.020000	0.10135	0.501000	0.22578	0.633000	0.30452	0.561000	0.74099	GGT			0.458	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088567.2		NM_153758		T	207010078	G	T	207010078	3	4	73	1	0	0	0	0	1	0	0	0	7664	1261	44	3	191	3	IL19	1	207010078	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	47210237	207010078	42240543	5	5198											
FMN2	56776	broad.mit.edu	37	chr1	240371580	240371580	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcataccccctccgcccccActtcccggagcgggcatacc	6	5	9	21	3	0	0	0	0	0	0	2	1	2	1	7	3	3	2	7	3	2	3			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr1:240371580A>T	ENST00000319653.9	+	5	3698	c.3468A>T	c.(3466-3468)ccA>ccT	p.P1156P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1156	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCGCCCCCACTTCCCGGAG	0.706																																					p.P1156P													FMN2,NS,carcinoma,+2,1	FMN2	451	1	0			c.A3468T												3	4	4					1																	240371580		1744	3609	5353	SO:0001819	synonymous_variant	56776	exon5			GCCCCCACTTCCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3468A>T	1.37:g.240371580A>T			65	0.0461538462	3		76	0.09	7	NM_020066	0		0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																					0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		T	240371580	A	T	240371580	2	4	73	1	0	0	0	0	0	0	0	1	5963	146	6	5		5	FMN2	1	240371580	Silent	SNP	A	TCGA-2G-AALW-01A-11D-A42Y-10	33361502	240371580	8879041	6	5199											
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224864	248224864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctatagcctgaggaacaAggaggtgatgggggccctga	11	7	15	8	0	1	3	0	3	1	0	1	5	1	5	2	5	2	0	2	5	4	2	rs543066146		TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr1:248224864A>G	ENST00000359959.3	+	1	881	c.881A>G	c.(880-882)aAg>aGg	p.K294R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	294						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)			CTGAGGAACAAGGAGGTGATG	0.502													a|||	1	0.000199681	0	0	5008	,	,		18589	0.001		0	False		,,,				2504	0				p.K294R													OR2L3,NS,carcinoma,+1,1	OR2L3	1	1	0			c.A881G												56	57	57					1																	248224864		2203	4300	6503	SO:0001583	missense	391192	exon1			GGAACAAGGAGGT	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.881A>G	1.37:g.248224864A>G	ENSP00000353044:p.Lys294Arg		88	0.0113636364	1		81	0.06	5	NM_001004687	0		0	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	A	9.463	1.093601	0.20471	.	.	ENSG00000198128	ENST00000359959	T	0.41065	1.01	2.01	-0.867	0.10655	.	.	.	.	.	T	0.36054	0.0953	M	0.63169	1.94	0.23762	N	0.996914	B	0.21821	0.061	B	0.23852	0.049	T	0.32348	-0.9910	9	0.37606	T	0.19	.	6.329	0.21259	0.7597:0.0:0.2403:0.0	.	294	Q8NG85	OR2L3_HUMAN	R	294	ENSP00000353044:K294R	ENSP00000353044:K294R	K	+	2	0	OR2L3	246291487	0.000000	0.05858	0.908000	0.35775	0.606000	0.37113	0.414000	0.21164	-0.373000	0.07979	-0.475000	0.04921	AAG			0.502	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096852.1		NM_001004687		G	248224864	A	G	248224864	3	3	73	1	0	0	0	0	1	0	0	0	11025	72	3	4	883	4	OR2L3	1	248224864	Missense_Mutation	SNP	A	TCGA-2G-AALW-01A-11D-A42Y-10	7853284	248224864	1025757	7	5200											
EPAS1	2034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	46603853	46603853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgaggagctggcccagctgGctcccaccccaggagacgcc	7	3	13	18	2	0	1	0	0	0	1	1	4	1	2	6	4	2	3	6	4	0	0			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr2:46603853G>A	ENST00000263734.3	+	9	1720	c.1210G>A	c.(1210-1212)Gct>Act	p.A404T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	404					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|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)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCCAGCTGGCTCCCACCCC	0.567																																					p.A404T													.	.			0			c.G1210A												62	68	66					2																	46603853		2203	4300	6503	SO:0001583	missense	2034	exon9			CAGCTGGCTCCCA	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1210G>A	2.37:g.46603853G>A	ENSP00000263734:p.Ala404Thr		70	0	0		96	0.22	21	NM_001430	52	0.15	8	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577246	0.96565	.	.	ENSG00000116016	ENST00000263734	T	0.60299	0.2	5.38	5.38	0.77491	.	0.376492	0.29692	N	0.011456	T	0.80586	0.4651	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83901	0.0290	10	0.87932	D	0	.	19.1396	0.93443	0.0:0.0:1.0:0.0	.	404	Q99814	EPAS1_HUMAN	T	404	ENSP00000263734:A404T	ENSP00000263734:A404T	A	+	1	0	EPAS1	46457357	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.751000	0.98889	2.521000	0.84997	0.462000	0.41574	GCT			0.567	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250752.2		NM_001430		A	46603853	G	A	46603853	3	1	73	1	0	0	0	0	1	0	0	0	5157	1203	42	2	1244	2	EPAS1	2	46603853	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10		46603853	196595520	8	5201											
BIN1	274	mdanderson.org	37	chr2	127825793	127825793	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagcctgcagtttgccttgGcaccactggggggcggcttt	4	11	15	11	1	0	1	0	1	0	0	0	1	0	1	3	5	3	4	3	5	0	3			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr2:127825793G>T	ENST00000316724.5	-	7	969	c.558C>A	c.(556-558)tgC>tgA	p.C186*	BIN1_ENST00000409400.1_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000351659.3_Nonsense_Mutation_p.C186*|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000357970.3_Nonsense_Mutation_p.C186*	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	186	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTTTGCCTTGGCACCACTGGG	0.592											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C186X													.	.			0			c.C558A												85	68	74					2																	127825793		2203	4300	6503	SO:0001587	stop_gained	274	exon7			GCCTTGGCACCAC	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.558C>A	2.37:g.127825793G>T	ENSP00000316779:p.Cys186*		35	0	0	1560	42	0.07	3	NM_139343	22	0	0	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Nonsense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	.	39	7.536251	0.98345	.	.	ENSG00000136717	ENST00000357970;ENST00000351659;ENST00000316724	.	.	.	4.87	2.13	0.27403	.	0.236798	0.36338	N	0.002644	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1438	8.8992	0.35484	0.2471:0.0:0.7529:0.0	.	.	.	.	X	186	.	ENSP00000316779:C186X	C	-	3	2	BIN1	127542263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.331000	0.43894	0.277000	0.22141	0.549000	0.68633	TGC			0.592	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254298.2		NM_139343		T	127825793	G	T	127825793	4	4	73	1	0	0	0	0	0	1	0	0	1432	1195	42	2	1324	2	BIN1	2	127825793	Nonsense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	81221940	127825793	115373580	9	5202											
POTEE	445582	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	131975985	131975985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttaaaagcagatggtggttGaggttgattccatgccggct	9	12	14	6	1	0	3	0	2	0	1	1	3	1	3	2	4	2	5	2	4	2	4			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr2:131975985G>C	ENST00000356920.5	+	1	104	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	POTEE_ENST00000358087.5_Missense_Mutation_p.E4Q|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	4					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GATGGTGGTTGAGGTTGATTC	0.532																																					p.E4Q													.	.			0			c.G10C												17	21	20					2																	131975985		1952	4121	6073	SO:0001583	missense	445582	exon1			GTGGTTGAGGTTG	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.10G>C	2.37:g.131975985G>C	ENSP00000439189:p.Glu4Gln		406	0	0		456	0.22	102	NM_001083538	0		0	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426409	0.11987	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.81247	-1.47;0.92	.	.	.	.	.	.	.	.	T	0.70193	0.3196	L	0.27053	0.805	0.09310	N	1	P	0.39094	0.659	B	0.42959	0.403	T	0.61491	-0.7052	7	0.87932	D	0	.	.	.	.	.	4	Q6S8J3	POTEE_HUMAN	Q	4	ENSP00000439189:E4Q;ENSP00000443049:E4Q	ENSP00000439189:E4Q	E	+	1	0	AC131180.1	131692455	0.009000	0.17119	0.033000	0.17914	0.033000	0.12548	0.711000	0.25764	0.159000	0.19401	0.162000	0.16502	GAG			0.532	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001083538		C	131975985	G	C	131975985	3	2	73	1	0	0	0	0	1	0	0	0	12281	1291	45	5	12	5	POTEE	2	131975985	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	4150192	131975985	111223388	10	5203											
KCNH7	90134	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	163374508	163374508	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgcttcagaggggctGcagctttcttttgtaggaga	7	14	12	8	0	4	2	2	0	2	2	4	3	4	2	0	3	3	5	0	3	1	5			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr2:163374508G>A	ENST00000332142.5	-	4	723	c.624C>T	c.(622-624)tgC>tgT	p.C208C	KCNH7_ENST00000328032.4_Silent_p.C208C|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	208					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)			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)	CAGAGGGGCTGCAGCTTTCTT	0.448																																					p.C208C	GBM(196;1492 2208 17507 24132 45496)												.	KCNH7	378		0			c.C624T												135	132	133					2																	163374508		2203	4300	6503	SO:0001819	synonymous_variant	90134	exon4			GGGGCTGCAGCTT	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.624C>T	2.37:g.163374508G>A			225	0	0		230	0.04	9	NM_033272	0		0	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	CCDS2219.1																																																																																					0.448	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255093.1		NM_033272		A	163374508	G	A	163374508	2	1	73	1	0	0	0	0	0	0	0	1	8052	1311	46	2		2	KCNH7	2	163374508	Silent	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	31398523	163374508	79824865	11	5204											
ABCA12	26154	broad.mit.edu	37	chr2	215840567	215840567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggggagatctgaatctctgGataactgttgctggaatttc	9	13	13	6	0	2	2	0	1	2	1	4	5	2	4	0	4	2	2	0	4	3	3			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr2:215840567G>T	ENST00000272895.7	-	34	5542	c.5323C>A	c.(5323-5325)Cca>Aca	p.P1775T	ABCA12_ENST00000389661.4_Missense_Mutation_p.P1457T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1775					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)		TGAATCTCTGGATAACTGTTG	0.453																																					p.P1775T	Ovarian(66;664 1488 5121 34295)												.	ABCA12	368		0			c.C5323A												146	141	143					2																	215840567		2203	4300	6503	SO:0001583	missense	26154	exon34			TCTCTGGATAACT	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.5323C>A	2.37:g.215840567G>T	ENSP00000272895:p.Pro1775Thr		145	0	0		189	0.03	5	NM_173076	0		0	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843679	0.91197	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93859	-2.22;-3.3	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	D	0.97340	0.9130	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.97234	0.9886	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1775;1457	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1775;1457	ENSP00000272895:P1775T;ENSP00000374312:P1457T	ENSP00000272895:P1775T	P	-	1	0	ABCA12	215548812	1.000000	0.71417	0.877000	0.34402	0.956000	0.61745	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CCA			0.453	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337111.1		NM_173076		T	215840567	G	T	215840567	3	4	73	1	0	0	0	0	1	0	0	0	30	1174	41	3	2544	3	ABCA12	2	215840567	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	52466059	215840567	27358806	12	5205											
MFSD1	64747	broad.mit.edu;mdanderson.org	37	chr3	158538116	158538116	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttattggacttgggaaGtgagtattctctatgtttcc	7	18	9	7	0	1	1	0	1	1	0	3	3	2	3	2	2	0	2	2	2	4	8			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr3:158538116G>T	ENST00000264266.8	+	9	925		c.e9+1		MFSD1_ENST00000415822.2_Splice_Site|MFSD1_ENST00000392813.4_Splice_Site			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GACTTGGGAAGTGAGTATTCT	0.338																																					.	Pancreas(62;1186 1654 36636 37908)												MFSD1,NS,carcinoma,0,1	MFSD1	88	1	0			c.893+1G>T												158	140	146					3																	158538116		2203	4299	6502	SO:0001630	splice_region_variant	64747	exon8			TGGGAAGTGAGTA	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.863+1G>T	3.37:g.158538116G>T			105	0	0		146	0.03	5	NM_001167903	0		0	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Splice_Site	SNP	ENST00000264266.8	37		.	.	.	.	.	.	.	.	.	.	G	16.31	3.087755	0.55968	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159;ENST00000477743	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1193	0.93355	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD1	160020810	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	9.155000	0.94700	2.511000	0.84671	0.573000	0.79308	.			0.338	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470730.1		NM_022736	Intron	T	158538116	G	T	158538116	5	4	73	1	0	0	0	0	0	0	1	0	9543	1043	36	3	1045	3	MFSD1	3	158538116	Splice_Site	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10		158538116	39484314	13	5206											
GSX2	170825	broad.mit.edu	37	chr4	54966900	54966900	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcgcatcatcaccaccAcccgccgcagcaccaccatc	10	4	5	22	3	2	0	2	0	0	0	3	0	2	0	7	0	2	3	7	0	0	0			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr4:54966900A>C	ENST00000326902.2	+	1	703	c.389A>C	c.(388-390)cAc>cCc	p.H130P	FIP1L1_ENST00000507166.1_Intron|AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000503800.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	130	Poly-His.				forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			catcaccaccacccgccgcag	0.721																																					p.H130P													.	GSX2	27		0			c.A389C												7	6	6					4																	54966900		1603	2993	4596	SO:0001583	missense	170825	exon1			ACCACCACCCGCC		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.389A>C	4.37:g.54966900A>C	ENSP00000319118:p.His130Pro		68	0.2941176471	20		71	0.25	18	NM_133267	0		0		Missense_Mutation	SNP	ENST00000326902.2	37	CCDS3494.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287372	0.40494	.	.	ENSG00000180613	ENST00000326902	D	0.91351	-2.83	3.58	2.34	0.29019	.	0.963572	0.08465	N	0.941848	T	0.79741	0.4498	N	0.14661	0.345	0.80722	D	1	B	0.30361	0.277	B	0.23018	0.043	T	0.67476	-0.5661	10	0.25751	T	0.34	.	6.8113	0.23807	0.7598:0.2402:0.0:0.0	.	130	Q9BZM3	GSX2_HUMAN	P	130	ENSP00000319118:H130P	ENSP00000319118:H130P	H	+	2	0	GSX2	54661657	0.780000	0.28664	0.829000	0.32907	0.972000	0.66771	-0.440000	0.06888	0.538000	0.28769	0.402000	0.26972	CAC			0.721	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250595.1		NM_133267		C	54966900	A	C	54966900	3	2	73	1	0	0	0	0	1	0	0	0	6865	159	6	4	391	4	GSX2	4	54966900	Missense_Mutation	SNP	A	TCGA-2G-AALW-01A-11D-A42Y-10		54966900	136187376	14	5207											
CLOCK	9575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	56319847	56319847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaaaagaattattaccttActacagtgtgagtacaaaca	17	12	5	7	0	1	2	0	1	1	1	1	2	1	2	1	0	5	1	1	0	9	6			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr4:56319847A>G	ENST00000309964.4	-	13	1377	c.1127T>C	c.(1126-1128)gTa>gCa	p.V376A	CLOCK_ENST00000381322.1_Missense_Mutation_p.V376A|CLOCK_ENST00000513440.1_Missense_Mutation_p.V376A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	376	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|PAC.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TTATTACCTTACTACAGTGTG	0.343																																					p.V376A													.	.			0			c.T1127C												66	66	66					4																	56319847		2203	4300	6503	SO:0001583	missense	9575	exon14			TACCTTACTACAG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1127T>C	4.37:g.56319847A>G	ENSP00000308741:p.Val376Ala		207	0	0		157	0.38	59	NM_004898	2	0.5	1	A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	31	5.069250	0.93950	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.20069	2.1;2.1;2.1	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.49350	1.555	0.80722	D	1	P	0.51653	0.947	P	0.58577	0.841	T	0.09185	-1.0686	10	0.87932	D	0	.	16.2826	0.82703	1.0:0.0:0.0:0.0	.	376	O15516	CLOCK_HUMAN	A	376	ENSP00000308741:V376A;ENSP00000370723:V376A;ENSP00000426983:V376A	ENSP00000308741:V376A	V	-	2	0	CLOCK	56014604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.307000	0.77673	0.528000	0.53228	GTA			0.343	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361993.2		NM_004898		G	56319847	A	G	56319847	3	3	73	1	0	0	0	0	1	0	0	0	3551	391	14	4	1453	4	CLOCK	4	56319847	Missense_Mutation	SNP	A	TCGA-2G-AALW-01A-11D-A42Y-10	1352947	56319847	134834429	15	5208											
PF4V1	5197	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	74719119	74719119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctcacccgcgccaccCgccaggagatgctgttcttg	5	7	10	19	4	2	1	1	0	1	1	2	2	2	1	6	1	1	2	6	1	0	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr4:74719119C>G	ENST00000226524.3	+	1	214	c.40C>G	c.(40-42)Cgc>Ggc	p.R14G		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	14					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCGCGCCACCCGCCAGGAGAT	0.657																																					p.R14G													.	PF4V1	8		0			c.C40G												27	28	28					4																	74719119		2203	4299	6502	SO:0001583	missense	5197	exon1			GCCACCCGCCAGG	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.40C>G	4.37:g.74719119C>G	ENSP00000226524:p.Arg14Gly		213	0.0046948357	1		151	0.42	64	NM_002620	0		0	A1L4S0	Missense_Mutation	SNP	ENST00000226524.3	37	CCDS3561.1	.	.	.	.	.	.	.	.	.	.	C	4.956	0.177585	0.09443	.	.	ENSG00000109272	ENST00000226524	.	.	.	3.29	-6.58	0.01836	.	5.764040	0.00166	N	0.000009	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09400	-1.0676	9	0.26408	T	0.33	.	2.2191	0.03968	0.2168:0.2754:0.3735:0.1343	.	14	P10720	PF4V_HUMAN	G	14	.	ENSP00000226524:R14G	R	+	1	0	PF4V1	74937983	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.229000	0.02945	-1.829000	0.01201	-1.290000	0.01357	CGC			0.657	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252495.1				G	74719119	C	G	74719119	3	3	73	1	0	0	0	0	1	0	0	0	11770	652	23	5	42	5	PF4V1	4	74719119	Missense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	18399272	74719119	116435157	16	5209											
TRPC3	7222	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	122831506	122831506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtattccctaggtcctTccagccagagctctttacat	10	13	6	12	0	1	1	0	0	1	1	4	1	4	1	4	1	3	2	4	1	4	6			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr4:122831506T>C	ENST00000379645.3	-	6	1668	c.1595A>G	c.(1594-1596)gAa>gGa	p.E532G	TRPC3_ENST00000513531.1_Missense_Mutation_p.E404G|TRPC3_ENST00000264811.5_Missense_Mutation_p.E459G	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	447					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTAGGTCCTTCCAGCCAGAG	0.453																																					p.E532G													.	.			0			c.A1595G												168	151	157					4																	122831506		2203	4300	6503	SO:0001583	missense	7222	exon6			GGTCCTTCCAGCC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1595A>G	4.37:g.122831506T>C	ENSP00000368966:p.Glu532Gly		61	0	0		57	0.33	19	NM_001130698	0		0	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180117	0.78564	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98455	-4.94;-4.94;-4.94	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	L	0.46614	1.455	0.58432	D	0.999992	B;P;P	0.41569	0.389;0.755;0.578	B;P;P	0.48873	0.314;0.593;0.593	D	0.96933	0.9682	10	0.25751	T	0.34	-9.4668	15.7186	0.77688	0.0:0.0:0.0:1.0	.	447;404;532	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	G	459;532;404	ENSP00000264811:E459G;ENSP00000368966:E532G;ENSP00000426899:E404G	ENSP00000264811:E459G	E	-	2	0	TRPC3	123050956	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.084000	0.71335	2.119000	0.64992	0.459000	0.35465	GAA			0.453	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000364252.1		NM_003305		C	122831506	T	C	122831506	3	2	73	1	0	0	0	0	1	0	0	0	16603	1783	62	4	1198	4	TRPC3	4	122831506	Missense_Mutation	SNP	T	TCGA-2G-AALW-01A-11D-A42Y-10	48112387	122831506	68322770	17	5210											
SMARCA5	8467	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	144471183	144471186	+	Frame_Shift_Del	DEL	TTGA	TTGA	-																															gatgtaataccttaattactTtgattgaaagagaaaacatg																										TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	TTGA	TTGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr4:144471183_144471186delTTGA	ENST00000283131.3	+	23	3481_3484	c.3019_3022delTTGA	c.(3019-3024)ttgattfs	p.LI1007fs		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	1007	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				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)					CTTAATTACTTTGATTGAAAGAGA	0.338																																					p.1006_1007del													.	SMARCA5	73		0			c.3018_3021del																																									SO:0001589	frameshift_variant	8467	exon23			ATTACTTTGATTG	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.3019_3022delTTGA	4.37:g.144471187_144471190delTTGA	ENSP00000283131:p.Leu1007fs		101	0	0		90	0.34	31	NM_003601	142	0	0		Frame_Shift_Del	DEL	ENST00000283131.3	37	CCDS3761.1																																																																																					0.338	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365077.3				-	144471186	TTGA	-	144471183	7	5	73	1	0	1	0	1	0	0	0	0	14794	1838	64	0	3109	0	SMARCA5	4	144471183	Frame_Shift_Del	DEL	TTGA	TCGA-2G-AALW-01A-11D-A42Y-10	21639677	144471183	46683093	18	5211											
GLRB	2743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	158057651	158057651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaacatcttcctgagacaaAaatggaatgaccccaggctg	14	9	8	10	0	1	2	0	2	1	1	2	4	2	3	3	2	1	1	3	2	4	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr4:158057651A>G	ENST00000264428.4	+	5	598	c.328A>G	c.(328-330)Aaa>Gaa	p.K110E	GLRB_ENST00000509282.1_Missense_Mutation_p.K110E|GLRB_ENST00000541722.1_Missense_Mutation_p.K110E|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	110					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|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)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	CCTGAGACAAAAATGGAATGA	0.403																																					p.K110E													.	.			0			c.A328G												53	54	54					4																	158057651		2203	4300	6503	SO:0001583	missense	2743	exon5			AGACAAAAATGGA	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.328A>G	4.37:g.158057651A>G	ENSP00000264428:p.Lys110Glu		175	0	0		151	0.42	63	NM_000824	3	0.33	1	A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.406391	0.62399	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.78816	-1.21;-1.21;-1.21	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.052700	0.64402	D	0.000001	T	0.65913	0.2737	N	0.20445	0.575	0.39330	D	0.965408	B	0.16396	0.017	B	0.19391	0.025	T	0.62353	-0.6872	10	0.29301	T	0.29	.	15.3155	0.74074	1.0:0.0:0.0:0.0	.	110	P48167	GLRB_HUMAN	E	110	ENSP00000264428:K110E;ENSP00000441873:K110E;ENSP00000427186:K110E	ENSP00000264428:K110E	K	+	1	0	GLRB	158277101	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	5.312000	0.65792	2.012000	0.59069	0.455000	0.32223	AAA			0.403	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366507.1		NM_000824		G	158057651	A	G	158057651	3	3	73	1	0	0	0	0	1	0	0	0	6472	15	1	4	342	4	GLRB	4	158057651	Missense_Mutation	SNP	A	TCGA-2G-AALW-01A-11D-A42Y-10	13586468	158057651	33096625	19	5212											
FCHSD1	89848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	141026222	141026223	+	Missense_Mutation	DNP	CG	CG	AT																															gggcagctcggctggtcaagCgctgaacctctttctccagg																								rs372866853		TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	CG	CG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr5:141026222_141026223CG>AT	ENST00000435817.2	-	11	1041_1042	c.991_992CG>AT	c.(991-993)CGc>ATc	p.R331I	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_Missense_Mutation_p.R255I|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R329I	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	331									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTCAAGCGCTGAACCTCT	0.604																																					p.R331I													.	.			0			c.C991A																																									SO:0001583	missense	89848	exon11			GTCAAGCGCTGAA	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.991_992delinsAT	5.37:g.141026222_141026223delinsAT	ENSP00000399259:p.Arg331Ile		32	0	0		40	0.25	10	NM_033449	15	0	0	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	DNP	ENST00000435817.2	37	CCDS47295.1																																																																																					0.604	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375282.2		NM_033449		AT	141026223	CG	AT	141026222	3	1	73	1	0	0	0	0	1	0	0	0	5802	768	27	1	1120	1	FCHSD1	5	141026222	Missense_Mutation	DNP	CG	TCGA-2G-AALW-01A-11D-A42Y-10		141026222	39889038	20	5213											
TFAP2A	7020	broad.mit.edu;mdanderson.org	37	chr6	10402739	10402739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaccctctactagtgatGtgagcagggtaacgttggca	9	11	12	9	1	1	2	0	2	1	0	1	2	1	2	1	2	4	5	1	2	4	5			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr6:10402739G>T	ENST00000482890.1	-	6	1221	c.869C>A	c.(868-870)aCa>aAa	p.T290K	TFAP2A_ENST00000379608.3_Missense_Mutation_p.T284K|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Missense_Mutation_p.T292K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.T290K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.T286K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	290	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|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 (GO:0000982)|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 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)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TACTAGTGATGTGAGCAGGGT	0.398																																					p.T290K													.	TFAP2A	129		0			c.C869A												166	142	150					6																	10402739		2203	4300	6503	SO:0001583	missense	7020	exon5			AGTGATGTGAGCA	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.869C>A	6.37:g.10402739G>T	ENSP00000418541:p.Thr290Lys		129	0	0		85	0.05	4	NM_003220	0		0	Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	CCDS4510.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.87|19.87|19.87	3.906698|3.906698|3.906698	0.72868|0.72868|0.72868	.|.|.	.|.|.	ENSG00000137203|ENSG00000137203|ENSG00000137203	ENST00000475264|ENST00000461628|ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073	.|.|D;D;D;D;D;D	.|.|0.97279	.|.|-4.32;-4.32;-4.32;-4.32;-4.32;-4.32	5.91|5.91|5.91	5.91|5.91|5.91	0.95273|0.95273|0.95273	.|.|Transcription factor AP-2, C-terminal (2);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.98994|0.98994|0.98994	0.9657|0.9657|0.9657	M|M|M	0.93375|0.93375|0.93375	3.41|3.41|3.41	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D	.|.|0.89917	.|.|0.997;0.996;0.997;1.0;1.0	.|.|D;D;D;D;D	.|.|0.91635	.|.|0.994;0.997;0.994;0.998;0.999	D|D|D	0.99353|0.99353|0.99353	1.0915|1.0915|1.0915	5|5|10	.|.|0.87932	.|.|D	.|.|0	-5.4102|-5.4102|-5.4102	20.2985|20.2985|20.2985	0.98592|0.98592|0.98592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|290;292;286;290;284	.|.|C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6	.|.|.;.;.;AP2A_HUMAN;.	N|Q|K	195|64|292;290;286;284;290;290	.|.|ENSP00000368933:T292K;ENSP00000368924:T290K;ENSP00000316516:T286K;ENSP00000368928:T284K;ENSP00000418541:T290K;ENSP00000417495:T290K	.|.|ENSP00000316516:T286K	H|H|T	-|-|-	1|3|2	0|2|0	TFAP2A|TFAP2A|TFAP2A	10510725|10510725|10510725	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.968000|0.968000|0.968000	0.65278|0.65278|0.65278	9.869000|9.869000|9.869000	0.99810|0.99810|0.99810	2.793000|2.793000|2.793000	0.96121|0.96121|0.96121	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAT|CAC|ACA			0.398	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000353619.2		NM_003220		T	10402739	G	T	10402739	3	4	73	1	0	0	0	0	1	0	0	0	15810	1377	48	3	456	3	TFAP2A	6	10402739	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10		10402739	160712328	21	5214											
HIVEP1	3096	broad.mit.edu;mdanderson.org	37	chr6	12121061	12121061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccttccagtagatctcagGttactcctcaaaaccagcaa	13	9	5	14	0	2	1	2	0	1	1	5	1	4	1	4	1	3	3	4	1	5	3			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr6:12121061G>T	ENST00000379388.2	+	4	1365	c.1033G>T	c.(1033-1035)Gtt>Ttt	p.V345F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	345					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)				TAGATCTCAGGTTACTCCTCA	0.413																																					p.V345F													.	HIVEP1	242		0			c.G1033T												137	129	131					6																	12121061		2022	4189	6211	SO:0001583	missense	3096	exon4			TCTCAGGTTACTC	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.1033G>T	6.37:g.12121061G>T	ENSP00000368698:p.Val345Phe		137	0	0		90	0.06	5	NM_002114	6	0	0	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844235	0.71488	.	.	ENSG00000095951	ENST00000379388	T	0.10005	2.92	5.35	5.35	0.76521	.	0.000000	0.31347	N	0.007813	T	0.18759	0.0450	M	0.69823	2.125	0.80722	D	1	D	0.61697	0.99	P	0.54706	0.759	T	0.00768	-1.1574	9	.	.	.	-19.6446	19.0704	0.93134	0.0:0.0:1.0:0.0	.	345	P15822	ZEP1_HUMAN	F	345	ENSP00000368698:V345F	.	V	+	1	0	HIVEP1	12229047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.893000	0.69798	2.482000	0.83794	0.650000	0.86243	GTT			0.413	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039870.2		NM_002114		T	12121061	G	T	12121061	3	4	73	1	0	0	0	0	1	0	0	0	7201	1261	44	3	1043	3	HIVEP1	6	12121061	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	1718322	12121061	158994006	22	5215											
TJAP1	93643	mdanderson.org	37	chr6	43473144	43473144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctgccagctctgaagagGacctgctggtcagctggcag	7	8	14	12	0	3	2	1	1	2	1	3	3	3	3	2	3	4	5	2	3	1	0			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr6:43473144G>T	ENST00000372445.5	+	11	1601	c.1225G>T	c.(1225-1227)Gac>Tac	p.D409Y	TJAP1_ENST00000259751.1_Missense_Mutation_p.D399Y|TJAP1_ENST00000438588.2_Missense_Mutation_p.D409Y|TJAP1_ENST00000372444.2_Missense_Mutation_p.D399Y|TJAP1_ENST00000372452.1_Missense_Mutation_p.D399Y|TJAP1_ENST00000372449.1_Missense_Mutation_p.D409Y|TJAP1_ENST00000436109.2_Missense_Mutation_p.D399Y|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	409					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTCTGAAGAGGACCTGCTGGT	0.667																																					p.D409Y													.	.			0			c.G1225T												39	40	40					6																	43473144		2203	4300	6503	SO:0001583	missense	93643	exon10			GAAGAGGACCTGC	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1225G>T	6.37:g.43473144G>T	ENSP00000361522:p.Asp409Tyr		33	0	0		48	0.06	3	NM_001146017	65	0	0	Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591625	0.86953	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.77302	-0.2638	9	0.87932	D	0	-50.0106	19.5343	0.95242	0.0:0.0:1.0:0.0	.	409;399	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	Y	399;409;399;399;399;399;409;409	.	ENSP00000259751:D399Y	D	+	1	0	TJAP1	43581122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.429000	0.80309	2.601000	0.87937	0.655000	0.94253	GAC			0.667	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000040629.1		NM_080604		T	43473144	G	T	43473144	3	4	73	1	0	0	0	0	1	0	0	0	15951	1174	41	3	1255	3	TJAP1	6	43473144	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	31352083	43473144	127641923	23	5216											
PRIM2	5558	bcgsc.ca	37	chr6	57398202	57398202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaaaatcaccatctttGtcatggaggccgaatgcagt	11	9	12	9	2	3	0	2	0	1	0	3	3	3	2	2	3	1	1	2	3	3	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr6:57398202G>A	ENST00000607273.1	+	10	992	c.905G>A	c.(904-906)tGt>tAt	p.C302Y	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	302					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CACCATCTTTGTCATGGAGGC	0.388																																					.													.	PRIM2	95		0			.												272	248	256					6																	57398202		1957	4157	6114	SO:0001583	missense	5558	.			ATCTTTGTCATGG		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.905G>A	6.37:g.57398202G>A	ENSP00000475738:p.Cys302Tyr		219	0.00456621	1		237	0.07	16	.	27	0.3	8	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	ENST00000607273.1	37																																																																																						0.388	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_000947		A	57398202	G	A	57398202	3	1	73	1	0	0	0	0	1	0	0	0	12511	1377	48	3	939	3	PRIM2	6	57398202	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	13925058	57398202	113716865	24	5217											
MTRF1L	54516	broad.mit.edu;mdanderson.org	37	chr6	153323668	153323668	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatgggcttcagacccCgcctggcgctcgaggaaggt	8	8	13	12	3	2	1	2	0	0	1	3	3	2	2	3	4	0	2	3	4	2	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr6:153323668C>T	ENST00000367233.5	-	1	152	c.153G>A	c.(151-153)gcG>gcA	p.A51A	MTRF1L_ENST00000367230.1_Silent_p.A51A|MTRF1L_ENST00000367231.5_Silent_p.A51A|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	51						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		CTTCAGACCCCGCCTGGCGCT	0.687																																					p.A51A													.	MTRF1L	21		0			c.G153A												9	11	10					6																	153323668		2185	4265	6450	SO:0001819	synonymous_variant	54516	exon1			AGACCCCGCCTGG	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.153G>A	6.37:g.153323668C>T			126	0.0079365079	1		220	0.24	52	NM_019041	4	0.5	2	B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	CCDS5243.1																																																																																					0.687	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042764.1		NM_019041		T	153323668	C	T	153323668	2	4	73	1	0	0	0	0	0	0	0	1	9976	639	23	1		1	MTRF1L	6	153323668	Silent	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	95925466	153323668	17791399	25	5218											
TCP10	6953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	167789494	167789494	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctcctgcagcgtggtGgcctgggaagcctgcactgg	4	9	16	12	1	1	0	0	0	1	0	2	1	2	1	3	4	5	3	3	4	1	0			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr6:167789494G>T	ENST00000397829.4	-	6	815	c.648C>A	c.(646-648)gcC>gcA	p.A216A	TCP10_ENST00000366827.2_Silent_p.A216A	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	243						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GCAGCGTGGTGGCCTGGGAAG	0.587																																					p.A216A													.	.			0			c.C648A												25	29	28					6																	167789494		1975	4167	6142	SO:0001819	synonymous_variant	6953	exon6			CGTGGTGGCCTGG	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.648C>A	6.37:g.167789494G>T			85	0	0		111	0.37	41	NM_004610	0		0	Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	CCDS43527.1																																																																																					0.587	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000365570.1		NM_004610		T	167789494	G	T	167789494	2	4	73	1	0	0	0	0	0	0	0	1	15733	1335	47	3		3	TCP10	6	167789494	Silent	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	14465826	167789494	3325573	26	5219											
MLLT4	4301	broad.mit.edu	37	chr6	168366528	168366541	+	Frame_Shift_Del	DEL	CGCCCGGTCTGTGC	CGCCCGGTCTGTGC	-																															caggttgctggagcccgaggCgcccggtctgtgccgccctc																								rs529754750|rs377617992	byFrequency	TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	CGCCCGGTCTGTGC	CGCCCGGTCTGTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr6:168366528_168366541delCGCCCGGTCTGTGC	ENST00000447894.2	+	31	5039_5052	c.5039_5052delCGCCCGGTCTGTGC	c.(5038-5052)gcgcccggtctgtgcfs	p.APGLC1680fs	MLLT4_ENST00000400822.3_Frame_Shift_Del_p.APGLC1690fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.APGLC1687fs|MLLT4_ENST00000392112.1_Splice_Site_p.AP1663fs|MLLT4_ENST00000366806.2_Frame_Shift_Del_p.APGLC1680fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1680	Pro-rich.				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)		GAGCCCGAGGCGCCCGGTCTGTGCCGCCCTCCGC	0.724			T	MLL	AL																																p.1663_1665del				Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	.	MLLT4	351		0			c.4988_4993del																																									SO:0001589	frameshift_variant	4301	exon30			CCGAGGCGCCCGG	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.5039_5052delCGCCCGGTCTGTGC	6.37:g.168366528_168366541delCGCCCGGTCTGTGC	ENSP00000404595:p.Ala1680fs		27	0	0		38	0.21	8	NM_001207008	24	0	0	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	ENST00000447894.2	37																																																																																						0.724	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000372077.1		NM_005936		-	168366541	CGCCCGGTCTGTGC	-	168366528	7	5	73	1	0	1	0	1	0	0	0	0	9645	768	27	0	5288	0	MLLT4	6	168366528	Frame_Shift_Del	DEL	CGCCCGGTCTGTGC	TCGA-2G-AALW-01A-11D-A42Y-10	577034	168366528	2748539	27	5220											
C7orf26	79034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	6631350	6631350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggagcaaaccaaggactCtgttcggcagattatttttt	11	12	9	9	1	1	1	0	0	1	1	2	3	1	3	2	3	2	3	2	3	3	5			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr7:6631350C>G	ENST00000344417.5	+	2	533	c.266C>G	c.(265-267)tCt>tGt	p.S89C	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Missense_Mutation_p.S70C	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	89										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		ACCAAGGACTCTGTTCGGCAG	0.463																																					p.S89C													.	.			0			c.C266G												160	173	168					7																	6631350		2203	4300	6503	SO:0001583	missense	79034	exon2			AGGACTCTGTTCG	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.266C>G	7.37:g.6631350C>G	ENSP00000340220:p.Ser89Cys		177	0	0		251	0.29	74	NM_024067	45	0.18	8	Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	c	18.69	3.678011	0.68042	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.44881	0.91;0.91	5.24	5.24	0.73138	.	0.112642	0.64402	D	0.000005	T	0.45256	0.1333	L	0.36672	1.1	0.49213	D	0.999764	P;D	0.54207	0.899;0.965	P;P	0.50378	0.54;0.639	T	0.35992	-0.9766	10	0.49607	T	0.09	-15.4437	16.766	0.85524	0.0:1.0:0.0:0.0	.	70;89	Q96N11-2;Q96N11	.;CG026_HUMAN	C	89;70	ENSP00000340220:S89C;ENSP00000351974:S70C	ENSP00000340220:S89C	S	+	2	0	C7orf26	6597875	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.760000	0.85248	2.627000	0.88993	0.632000	0.83419	TCT			0.463	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246844.2		NM_024067		G	6631350	C	G	6631350	3	3	73	1	0	0	0	0	1	0	0	0	2383	913	32	5	272	5	C7orf26	7	6631350	Missense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10		6631350	152507313	28	5221											
URGCP	55665	mdanderson.org	37	chr7	43917157	43917157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcctctggcctgccggcagCctccctgcctccacaagaca	6	6	9	20	2	1	1	0	0	1	1	3	1	3	1	7	2	3	1	7	2	1	0			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr7:43917157C>T	ENST00000453200.1	-	6	2398	c.1905G>A	c.(1903-1905)agG>agA	p.R635R	URGCP_ENST00000443736.1_Silent_p.R592R|URGCP_ENST00000223341.7_Silent_p.R592R|URGCP_ENST00000447717.3_Silent_p.R592R|URGCP_ENST00000336086.6_Silent_p.R592R|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Silent_p.R626R			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	635					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCCGGCAGCCTCCCTGCCT	0.632																																					p.R635R													.	.			0			c.G1905A												34	41	39					7																	43917157		2088	4216	6304	SO:0001819	synonymous_variant	55665	exon6			CGGCAGCCTCCCT		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1905G>A	7.37:g.43917157C>T			39	0	0		47	0.06	3	NM_001077663	29	0	0	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	CCDS47578.1																																																																																					0.632	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000338995.1		NM_001077664		T	43917157	C	T	43917157	2	4	73	1	0	0	0	0	0	0	0	1	17050	738	26	2		2	URGCP	7	43917157	Silent	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	37285807	43917157	115221506	29	5222											
EPHB6	2051	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr7	142562074	142562074	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcttcttcctctgcagcgtg	1	15	4	21	1	3	0	0	0	3	0	11	0	11	0	8	0	2	1	8	0	0	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr7:142562074C>T	ENST00000392957.2	+	7	1303	c.516C>T	c.(514-516)tcC>tcT	p.S172S	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.S172S	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	172	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Poly-Ser.					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)					cctcctcctcctcttcttcct	0.622																																					p.S172S													.	.			0			c.C516T												83	98	93					7																	142562074		2200	4299	6499	SO:0001819	synonymous_variant	2051	exon7			CTCCTCCTCTTCT	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.516C>T	7.37:g.142562074C>T			70	0	0		103	0.05	5	NM_004445	8	0	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																					0.622	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341329.1				T	142562074	C	T	142562074	2	4	73	1	0	0	0	0	0	0	0	1	5185	668	24	3		3	EPHB6	7	142562074	Silent	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	98644917	142562074	16576589	30	5223											
SPAG11B	10407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	7308297	7308297	+	3'UTR	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcatctgtatttgataCgcaacacctattccagggat	10	15	6	10	1	3	1	1	1	2	0	4	2	4	2	2	1	2	2	2	1	4	7	rs370915382		TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr8:7308297C>G	ENST00000297498.2	-	0	582				SPAG11B_ENST00000458665.1_Missense_Mutation_p.V61L|SPAG11B_ENST00000398462.2_Missense_Mutation_p.V114L|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000528168.1_3'UTR	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GTATTTGATACGCAACACCTA	0.443																																					p.V114L													SPAG11B_ENST00000398462,NS,carcinoma,0,2	SPAG11B_ENST00000398462	0	2	0			c.G340C												85	91	89					8																	7308297		2202	4300	6502	SO:0001624	3_prime_UTR_variant	10407	exon3			TTGATACGCAACA	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"epididymal protein 2B"	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.*104G>C	8.37:g.7308297C>G			355	0	0		250	0.24	59	NM_058201	0		0	E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	37	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	C	9.640	1.138785	0.21123	.	.	ENSG00000164871	ENST00000458665;ENST00000398462	T;T	0.21361	2.01;2.01	3.44	-6.89	0.01660	.	.	.	.	.	T	0.06600	0.0169	N	0.14661	0.345	0.09310	N	1	B;B	0.15930	0.015;0.005	B;B	0.14023	0.01;0.006	T	0.37454	-0.9705	9	0.02654	T	1	-2.381	1.9445	0.03354	0.1207:0.2535:0.3604:0.2654	.	114;61	A8MZA0;E9PFH0	.;.	L	61;114	ENSP00000398550:V61L;ENSP00000381480:V114L	ENSP00000381480:V114L	V	-	1	0	SPAG11B	7295707	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	-3.947000	0.00328	-2.076000	0.00875	0.454000	0.30748	GTA			0.443	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251390.2		NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		G	7308297	C	G	7308297	1	3	73	0	1	0	0	0	0	0	0	0	15000	536	19	5		5	SPAG11B	8	7308297	3'UTR	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10		7308297	139055725	31	5224											
LGI3	203190	mdanderson.org	37	chr8	22005965	22005965	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgagaagcgggtacccTcccagcgcaggatcttggag	8	6	13	14	3	1	1	0	0	1	1	3	4	3	3	4	3	3	2	4	3	2	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr8:22005965T>C	ENST00000306317.2	-	8	1644	c.1355A>G	c.(1354-1356)gAg>gGg	p.E452G	LGI3_ENST00000424267.2_Missense_Mutation_p.E428G	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	452					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)		GCGGGTACCCTCCCAGCGCAG	0.672																																					p.E452G													.	.			0			c.A1355G												31	31	31					8																	22005965		2202	4300	6502	SO:0001583	missense	203190	exon8			GTACCCTCCCAGC	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.1355A>G	8.37:g.22005965T>C	ENSP00000302297:p.Glu452Gly		62	0.0161290323	1		46	0.07	3	NM_139278	0		0	A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.382444	0.42207	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.80824	-1.42;-1.42	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.061993	0.64402	D	0.000005	T	0.77418	0.4127	N	0.16368	0.405	0.50467	D	0.999874	D;D	0.59767	0.986;0.986	P;P	0.59012	0.85;0.85	T	0.74575	-0.3620	10	0.20519	T	0.43	-43.1005	13.0123	0.58737	0.0:0.0:0.0:1.0	.	428;452	A5PLP2;Q8N145	.;LGI3_HUMAN	G	452;428	ENSP00000302297:E452G;ENSP00000399121:E428G	ENSP00000302297:E452G	E	-	2	0	LGI3	22061910	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.164000	0.64954	1.941000	0.56285	0.459000	0.35465	GAG			0.672	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254482.1				C	22005965	T	C	22005965	3	2	73	1	0	0	0	0	1	0	0	0	8768	1551	54	4	295	4	LGI3	8	22005965	Missense_Mutation	SNP	T	TCGA-2G-AALW-01A-11D-A42Y-10	14697668	22005965	124358057	32	5225											
PHF20L1	51105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	133849987	133849987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgttggcaacacagcGtgtgcatggggctgctggag	6	10	17	8	1	0	0	0	0	0	0	0	1	0	1	0	4	4	6	0	4	1	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr8:133849987G>A	ENST00000395386.2	+	17	2421	c.2122G>A	c.(2122-2124)Gtg>Atg	p.V708M	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.V95M|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.V683M	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	708							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	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)			GCAACACAGCGTGTGCATGGG	0.512																																					p.V708M													.	.			0			c.G2122A												120	123	122					8																	133849987		2127	4246	6373	SO:0001583	missense	51105	exon17			CACAGCGTGTGCA	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2122G>A	8.37:g.133849987G>A	ENSP00000378784:p.Val708Met		67	0	0		49	0.31	15	NM_016018	13	0.23	3	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444273	0.83993	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T;T	0.42131	0.98;0.98;0.98	5.64	4.75	0.60458	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.516121	0.16113	U	0.229003	T	0.43166	0.1235	M	0.62016	1.91	0.38340	D	0.944057	P;P	0.40602	0.676;0.723	B;B	0.37346	0.212;0.247	T	0.51244	-0.8730	10	0.54805	T	0.06	-9.1737	14.8906	0.70606	0.0:0.0:0.8557:0.1443	.	683;708	F8W9L8;A8MW92	.;P20L1_HUMAN	M	708;95;683	ENSP00000378784:V708M;ENSP00000220847:V95M;ENSP00000378788:V683M	ENSP00000220847:V95M	V	+	1	0	PHF20L1	133919169	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	5.078000	0.64425	1.331000	0.45412	0.637000	0.83480	GTG			0.512	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000308949.3		NM_016018		A	133849987	G	A	133849987	3	1	73	1	0	0	0	0	1	0	0	0	11849	1145	40	1	2280	1	PHF20L1	8	133849987	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	111844022	133849987	12514035	33	5226											
PLEC	5339	mdanderson.org	37	chr8	144992599	144992599	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcatccagcagccgcAgggcctcctcagtagggatc	7	6	14	14	1	1	0	1	0	0	0	4	1	3	1	4	3	2	5	4	3	1	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr8:144992599A>T	ENST00000322810.4	-	32	11970	c.11801T>A	c.(11800-11802)cTg>cAg	p.L3934Q	PLEC_ENST00000354589.3_Missense_Mutation_p.L3797Q|PLEC_ENST00000527096.1_Missense_Mutation_p.L3820Q|PLEC_ENST00000436759.2_Missense_Mutation_p.L3824Q|PLEC_ENST00000345136.3_Missense_Mutation_p.L3797Q|PLEC_ENST00000398774.2_Missense_Mutation_p.L3765Q|PLEC_ENST00000354958.2_Missense_Mutation_p.L3775Q|PLEC_ENST00000357649.2_Missense_Mutation_p.L3801Q|PLEC_ENST00000356346.3_Missense_Mutation_p.L3783Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3934	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						CAGCAGCCGCAGGGCCTCCTC	0.667																																					p.L3934Q													.	.			0			c.T11801A												7	11	10					8																	144992599		2054	4177	6231	SO:0001583	missense	5339	exon32			AGCCGCAGGGCCT	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.11801T>A	8.37:g.144992599A>T	ENSP00000323856:p.Leu3934Gln		18	0	0		31	0.1	3	NM_201380	72	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486820	0.26686	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	4.08	4.08	0.47627	.	0.139770	0.29653	U	0.011552	D	0.83982	0.5372	M	0.61703	1.905	0.54753	D	0.999985	D;D;D;D;D;D;D;D	0.63046	0.99;0.99;0.99;0.992;0.99;0.99;0.99;0.99	P;P;P;D;P;P;P;P	0.65987	0.901;0.901;0.901;0.94;0.901;0.901;0.901;0.901	D	0.83981	0.0332	10	0.45353	T	0.12	.	12.1622	0.54110	1.0:0.0:0.0:0.0	.	3824;3783;3775;3934;3765;3797;3801;3797	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3797;3801;3797;3765;3934;3775;3783;3824;3820	ENSP00000344848:L3797Q;ENSP00000350277:L3801Q;ENSP00000346602:L3797Q;ENSP00000381756:L3765Q;ENSP00000323856:L3934Q;ENSP00000347044:L3775Q;ENSP00000348702:L3783Q;ENSP00000388180:L3824Q;ENSP00000434583:L3820Q	ENSP00000323856:L3934Q	L	-	2	0	PLEC	145064587	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.269000	0.78482	1.708000	0.51301	0.247000	0.18012	CTG			0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		T	144992599	A	T	144992599	3	4	73	1	0	0	0	0	1	0	0	0	12069	188	7	5	2257	5	PLEC	8	144992599	Missense_Mutation	SNP	A	TCGA-2G-AALW-01A-11D-A42Y-10	11142612	144992599	1371423	34	5227											
PARP10	84875	mdanderson.org	37	chr8	145058391	145058391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacctcttcaaggcctGtgtccaacgtggctgtggcc	5	12	10	14	1	3	0	1	0	2	0	5	0	4	0	4	3	2	1	4	3	3	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr8:145058391G>T	ENST00000313028.7	-	6	1761	c.1667C>A	c.(1666-1668)aCa>aAa	p.T556K	PARP10_ENST00000524918.1_Missense_Mutation_p.T556K|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.T568K	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	556					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	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)			TTCAAGGCCTGTGTCCAACGT	0.632																																					p.T556K													.	.			0			c.C1667A												60	66	64					8																	145058391		2203	4300	6503	SO:0001583	missense	84875	exon6			AGGCCTGTGTCCA	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1667C>A	8.37:g.145058391G>T	ENSP00000325618:p.Thr556Lys		65	0	0		51	0.06	3	NM_032789	59	0	0	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	5.855	0.342013	0.11069	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.09723	2.95;2.95;2.95	4.21	0.129	0.14739	.	1.300580	0.05485	N	0.555534	T	0.07593	0.0191	N	0.24115	0.695	0.09310	N	1	B;B	0.19331	0.035;0.023	B;B	0.14578	0.011;0.006	T	0.39941	-0.9589	10	0.54805	T	0.06	.	3.742	0.08533	0.4125:0.0:0.4216:0.1659	.	568;556	E9PNI7;Q53GL7	.;PAR10_HUMAN	K	556;262;556;568	ENSP00000431620:T556K;ENSP00000325618:T556K;ENSP00000434776:T568K	ENSP00000325618:T556K	T	-	2	0	PARP10	145130379	0.000000	0.05858	0.074000	0.20217	0.425000	0.31504	0.403000	0.20982	-0.344000	0.08338	0.550000	0.68814	ACA			0.632	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000383866.1		NM_032789		T	145058391	G	T	145058391	3	4	73	1	0	0	0	0	1	0	0	0	11472	1377	48	3	1434	3	PARP10	8	145058391	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	65792	145058391	1305631	35	5228											
FAM22G	441457	mdanderson.org	37	chr9	99699464	99699464	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcccccgaggccagcAgagaccaaggtccctgagga	10	2	13	16	1	0	2	0	1	0	1	1	5	1	3	6	4	1	1	6	4	1	0	rs2986890	byFrequency	TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr9:99699464A>G	ENST00000372322.3	+	5	1122	c.1101A>G	c.(1099-1101)gcA>gcG	p.A367A	NUTM2G_ENST00000354649.3_Silent_p.A367A|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	367	Pro-rich.																CGAGGCCAGCAGAGACCAAGG	0.682													.|||	2	0.000399361	0	0.0029	5008	,	,		16549	0		0	False		,,,				2504	0				p.A367A													.	.			0			c.A1101G												50	59	56					9																	99699464		1943	4139	6082	SO:0001819	synonymous_variant	441457	exon5			GCCAGCAGAGACC		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1101A>G	9.37:g.99699464A>G			89	0.0224719101	2		101	0.05	5	NM_001045477	0		0	A6NNI5|Q5VZR3	Silent	SNP	ENST00000372322.3	37	CCDS55329.1																																																																																					0.682	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000053291.2		NM_001170741		G	99699464	A	G	99699464	2	3	73	1	0	0	0	0	0	0	0	1	5556	175	7	4		4	FAM22G	9	99699464	Silent	SNP	A	TCGA-2G-AALW-01A-11D-A42Y-10		99699464	41513967	36	5229											
PKN3	29941	hgsc.bcm.edu;mdanderson.org	37	chr9	131469216	131469216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctacagcatcgactgcacGttgaggcagctgtggctgag	9	8	14	10	2	0	2	0	2	0	0	1	3	0	2	0	2	5	7	0	2	1	2	rs564975981	byFrequency	TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr9:131469216G>T	ENST00000291906.4	+	5	958	c.565G>T	c.(565-567)Gtt>Ttt	p.V189F	RN7SL560P_ENST00000577943.1_RNA	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	189					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TCGACTGCACGTTGAGGCAGC	0.652																																					p.V189F													.	.			0			c.G565T												59	62	61					9																	131469216		2203	4300	6503	SO:0001583	missense	29941	exon5			CTGCACGTTGAGG	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.565G>T	9.37:g.131469216G>T	ENSP00000291906:p.Val189Phe		41	0	0		60	0.07	4	NM_013355	7	0	0	Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755306	0.31046	.	.	ENSG00000160447	ENST00000291906	T	0.20881	2.04	5.17	-1.63	0.08345	.	.	.	.	.	T	0.32704	0.0838	M	0.73598	2.24	0.09310	N	1	P;P	0.47841	0.844;0.901	P;P	0.50860	0.652;0.574	T	0.28235	-1.0050	9	0.87932	D	0	.	10.368	0.44035	0.604:0.0:0.396:0.0	.	189;189	Q05BU1;Q6P5Z2	.;PKN3_HUMAN	F	189	ENSP00000291906:V189F	ENSP00000291906:V189F	V	+	1	0	PKN3	130509037	0.614000	0.27017	0.001000	0.08648	0.064000	0.16182	1.448000	0.35112	-0.587000	0.05890	-1.030000	0.02411	GTT			0.652	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054487.1		NM_013355		T	131469216	G	T	131469216	3	4	73	1	0	0	0	0	1	0	0	0	11998	1145	40	1	583	1	PKN3	9	131469216	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	31769752	131469216	9744215	37	5230											
NUP188	23511	broad.mit.edu;mdanderson.org	37	chr9	131763859	131763859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgtgtgaggtagacgagGatggtgactcctggctgcag	8	9	17	7	1	0	3	0	2	0	1	1	5	1	4	1	4	2	4	1	4	1	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr9:131763859G>T	ENST00000372577.2	+	35	3916	c.3895G>T	c.(3895-3897)Gat>Tat	p.D1299Y	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1299					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGTAGACGAGGATGGTGACTC	0.582																																					p.D1299Y													.	NUP188	140		0			c.G3895T												69	60	63					9																	131763859		2203	4300	6503	SO:0001583	missense	23511	exon35			GACGAGGATGGTG	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3895G>T	9.37:g.131763859G>T	ENSP00000361658:p.Asp1299Tyr		87	0	0		102	0.05	5	NM_015354	65	0.02	1	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008697	0.54361	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35236	1.32	5.39	5.39	0.77823	.	0.095366	0.64402	D	0.000001	T	0.37433	0.1003	L	0.59436	1.845	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.002	T	0.18777	-1.0326	10	0.62326	D	0.03	-8.306	14.6489	0.68780	0.0:0.0:0.8542:0.1458	.	632;1299	E9PET9;Q5SRE5	.;NU188_HUMAN	Y	1188;1299	ENSP00000361658:D1299Y	ENSP00000349125:D1188Y	D	+	1	0	NUP188	130803680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.636000	0.83301	2.537000	0.85549	0.462000	0.41574	GAT			0.582	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054529.2				T	131763859	G	T	131763859	3	4	73	1	0	0	0	0	1	0	0	0	10775	1174	41	3	4033	3	NUP188	9	131763859	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	294643	131763859	9449572	38	5231											
C10orf140	387640	mdanderson.org	37	chr10	21806056	21806056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcagcagcGgcggcggcggcggcggcggc	2	0	25	14	11	0	0	0	0	0	0	0	0	0	0	0	11	2	2	0	11	0	0			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr10:21806056G>A	ENST00000449193.2	-	4	2948	c.696C>T	c.(694-696)gcC>gcT	p.A232A	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Intron	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	232	Ala-rich.			Missing (in Ref. 2; BAD18601). {ECO:0000305}.		nucleus (GO:0005634)											cggcagcagcggcggcggcgg	0.766																																					p.A232A													.	.			0			c.C696T												1	1	1					10																	21806056		64	241	305	SO:0001819	synonymous_variant	387640	exon4			AGCAGCGGCGGCG	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.696C>T	10.37:g.21806056G>A			17	0	0		14	0.21	3	NM_207371	0		0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.766	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		A	21806056	G	A	21806056	2	1	73	1	0	0	0	0	0	0	0	1	1597	1103	39	1		1	C10orf140	10	21806056	Silent	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10		21806056	113728691	39	5232											
ECD	11319	broad.mit.edu;mdanderson.org	37	chr10	74899094	74899094	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgctcccttgtgggttGagactttggatatgaaagct	7	14	12	8	0	1	2	0	2	1	1	2	4	2	3	1	2	2	4	1	2	2	4			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr10:74899094G>T	ENST00000372979.4	-	11	1600	c.1394C>A	c.(1393-1395)tCa>tAa	p.S465*	ECD_ENST00000454759.2_Nonsense_Mutation_p.S422*|ECD_ENST00000430082.2_Nonsense_Mutation_p.S498*	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	465					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)					CTTGTGGGTTGAGACTTTGGA	0.403																																					p.S498X													.	ECD	50		0			c.C1493A												106	106	106					10																	74899094		2203	4300	6503	SO:0001587	stop_gained	11319	exon12			TGGGTTGAGACTT	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.1394C>A	10.37:g.74899094G>T	ENSP00000362070:p.Ser465*		67	0	0		66	0.08	5	NM_001135752	39	0	0	C9JX46|E9PAW8	Nonsense_Mutation	SNP	ENST00000372979.4	37	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	G	38	7.263567	0.98171	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	.	.	.	5.39	5.39	0.77823	.	0.127023	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4195	16.6303	0.85032	0.0:0.0:1.0:0.0	.	.	.	.	X	465;498;422	.	ENSP00000362070:S465X	S	-	2	0	ECD	74569100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.481000	0.81124	2.514000	0.84764	0.460000	0.39030	TCA			0.403	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048606.1		NM_007265		T	74899094	G	T	74899094	4	4	73	1	0	0	0	0	0	1	0	0	4893	1294	45	3	556	3	ECD	10	74899094	Nonsense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	53093038	74899094	60635653	40	5233											
IFIT5	24138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	91178125	91178125	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctttcaggaatttcaccGtaaatcagaaaatactgcca	14	10	6	11	2	3	1	3	0	0	1	3	2	3	2	3	1	2	2	3	1	6	4	rs564765939		TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr10:91178125G>C	ENST00000371795.4	+	2	1382	c.1169G>C	c.(1168-1170)cGt>cCt	p.R390P	IFIT5_ENST00000416601.1_Missense_Mutation_p.R342P	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	390					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						GAATTTCACCGTAAATCAGAA	0.428																																					p.R390P													.	.			0			c.G1169C												74	68	70					10																	91178125		2203	4300	6503	SO:0001583	missense	24138	exon2			TTCACCGTAAATC	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1169G>C	10.37:g.91178125G>C	ENSP00000360860:p.Arg390Pro		157	0	0		115	0.37	43	NM_012420	25	0.4	10	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412269	0.42817	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.60040	0.22;0.22	6.17	4.32	0.51571	.	0.670521	0.15342	N	0.267439	T	0.58495	0.2126	L	0.55481	1.735	0.09310	N	1	P;P	0.46512	0.879;0.879	P;P	0.52267	0.694;0.694	T	0.50127	-0.8864	10	0.37606	T	0.19	0.2252	4.3315	0.11066	0.2048:0.0:0.5095:0.2858	.	390;342	Q13325;B4DDV1	IFIT5_HUMAN;.	P	390;342	ENSP00000360860:R390P;ENSP00000414042:R342P	ENSP00000360860:R390P	R	+	2	0	IFIT5	91168105	0.003000	0.15002	0.002000	0.10522	0.981000	0.71138	1.168000	0.31859	0.924000	0.37069	0.655000	0.94253	CGT			0.428	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049303.1		NM_012420		C	91178125	G	C	91178125	3	2	73	1	0	0	0	0	1	0	0	0	7540	1145	40	5	1175	5	IFIT5	10	91178125	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	16279031	91178125	44356622	41	5234											
LOXL4	84171	hgsc.bcm.edu;mdanderson.org	37	chr10	100017443	100017443	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttagggacattgcacctGacagcagcatcattctcatg	11	11	9	10	0	2	1	2	1	1	0	3	2	2	2	1	1	3	4	1	1	1	3	rs372088253		TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr10:100017443G>T	ENST00000260702.3	-	8	1374	c.1224C>A	c.(1222-1224)gtC>gtA	p.V408V	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	408	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CATTGCACCTGACAGCAGCAT	0.597																																					p.V408V													.	.			0			c.C1224A												163	134	144					10																	100017443		2203	4300	6503	SO:0001819	synonymous_variant	84171	exon8			GCACCTGACAGCA	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1224C>A	10.37:g.100017443G>T			55	0	0		66	0.06	4	NM_032211	12	0	0	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	CCDS7473.1																																																																																					0.597	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049766.1		NM_032211		T	100017443	G	T	100017443	2	4	73	1	0	0	0	0	0	0	0	1	8918	1277	45	3		3	LOXL4	10	100017443	Silent	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	8839318	100017443	35517304	42	5235											
C10orf93	54777	broad.mit.edu	37	chr10	134755171	134755171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaactgggtgatgggcGccttcaccttgaagtacatt	10	10	11	10	1	1	3	1	2	0	1	1	3	1	3	3	2	2	1	3	2	3	4			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr10:134755171G>T	ENST00000368586.5	-	3	330	c.230C>A	c.(229-231)gCg>gAg	p.A77E	TTC40_ENST00000368582.2_Missense_Mutation_p.A77E|RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368585.3_Missense_Mutation_p.A77E	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTGATGGGCGCCTTCACCTT	0.597																																					p.A77E													.	TTC40	100		0			c.C230A												83	78	79					10																	134755171		2202	4300	6502	SO:0001583	missense	54777	exon3			ATGGGCGCCTTCA																												ENST00000368586.5:c.230C>A	10.37:g.134755171G>T	ENSP00000357575:p.Ala77Glu		146	0	0		130	0.04	5	NM_001200049	1	0	0		Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364464	0.61513	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	T;T;T	0.80480	-1.38;-1.38;-1.38	4.45	1.08	0.20341	.	1.078920	0.07196	N	0.856687	T	0.78947	0.4364	L	0.46157	1.445	0.26408	N	0.976304	P;P	0.46621	0.881;0.881	B;B	0.43103	0.318;0.408	T	0.69247	-0.5195	10	0.51188	T	0.08	.	15.5285	0.75932	0.0:0.2649:0.7351:0.0	.	77;77	Q5SR76-2;Q5SR76-1	.;.	E	77	ENSP00000357575:A77E;ENSP00000357571:A77E;ENSP00000357574:A77E	ENSP00000357571:A77E	A	-	2	0	C10orf93	134605161	0.142000	0.22610	0.781000	0.31783	0.950000	0.60333	0.127000	0.15790	0.492000	0.27815	-0.219000	0.12488	GCG			0.597	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000051095.3				T	134755171	G	T	134755171	3	4	73	1	0	0	0	0	1	0	0	0	1627	1087	38	1	1015	1	C10orf93	10	134755171	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	34737728	134755171	779576	43	5236											
RPS6KA4	8986	mdanderson.org	37	chr11	64136051	64136051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagagcggccaggagttcGcagtcaagatcctcagtcgc	9	6	13	13	3	2	2	2	0	0	2	5	3	3	3	3	2	1	2	3	2	1	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr11:64136051G>T	ENST00000334205.4	+	11	1377	c.1312G>T	c.(1312-1314)Gca>Tca	p.A438S	RPS6KA4_ENST00000294261.4_Intron|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.A431S	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	438	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCAGGAGTTCGCAGTCAAGAT	0.726																																					p.A438S													.	.			0			c.G1312T												10	12	11					11																	64136051		2183	4273	6456	SO:0001583	missense	8986	exon11			GAGTTCGCAGTCA	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1312G>T	11.37:g.64136051G>T	ENSP00000333896:p.Ala438Ser		33	0	0		25	0.12	3	NM_003942	29	0	0	A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	29.8	5.037476	0.93630	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000530504	T;T;T	0.72051	-0.62;-0.62;-0.62	4.49	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056560	0.64402	D	0.000001	D	0.86623	0.5977	M	0.91196	3.185	0.80722	D	1	P;D;D	0.76494	0.927;0.999;0.999	P;D;D	0.78314	0.566;0.991;0.963	D	0.89930	0.4065	10	0.87932	D	0	.	14.6625	0.68882	0.0:0.0:1.0:0.0	.	431;438;432	E9PJN1;O75676;O75676-2	.;KS6A4_HUMAN;.	S	431;438;416	ENSP00000435580:A431S;ENSP00000333896:A438S;ENSP00000432945:A416S	ENSP00000333896:A438S	A	+	1	0	RPS6KA4	63892627	1.000000	0.71417	0.926000	0.36857	0.915000	0.54546	9.116000	0.94341	2.055000	0.61198	0.455000	0.32223	GCA			0.726	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106246.2		NM_003942		T	64136051	G	T	64136051	3	4	73	1	0	0	0	0	1	0	0	0	13676	1087	38	1	1354	1	RPS6KA4	11	64136051	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10		64136051	70870465	44	5237											
CARD17	440068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	104971361	104971361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagctcgggccttatcCataactgtagcattttcaca	12	11	7	11	1	1	0	1	0	0	0	3	0	2	0	2	1	4	4	2	1	4	5			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr11:104971361C>T	ENST00000375707.1	-	2	169	c.153G>A	c.(151-153)atG>atA	p.M51I	CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	51	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GGGCCTTATCCATAACTGTAG	0.443																																					p.M51I													CARD17,bladder,carcinoma,0,1	CARD17	0	1	0			c.G153A												173	163	167					11																	104971361		2202	4299	6501	SO:0001583	missense	440068	exon2			CTTATCCATAACT		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.153G>A	11.37:g.104971361C>T	ENSP00000364859:p.Met51Ile		151	0.0066225166	1		124	0.35	44	NM_001007232	0		0		Missense_Mutation	SNP	ENST00000375707.1	37	CCDS31662.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026062	0.35701	.	.	ENSG00000255221	ENST00000375707	T	0.20738	2.05	2.92	1.97	0.26223	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.36826	0.0981	M	0.79805	2.47	0.09310	N	1	P	0.47604	0.898	P	0.53722	0.733	T	0.11567	-1.0582	9	0.51188	T	0.08	.	7.8073	0.29211	0.0:0.7409:0.2591:0.0	.	51	Q5XLA6	CAR17_HUMAN	I	51	ENSP00000364859:M51I	ENSP00000364859:M51I	M	-	3	0	CARD17	104476571	0.010000	0.17322	0.022000	0.16811	0.059000	0.15707	0.736000	0.26130	0.516000	0.28340	0.511000	0.50034	ATG			0.443	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388181.1		NM_001007232		T	104971361	C	T	104971361	3	4	73	1	0	0	0	0	1	0	0	0	2650	594	21	3	187	3	CARD17	11	104971361	Missense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	40835310	104971361	30035155	45	5238											
MLL2	8085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49444817	49444817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatggttccccagggggaggGaacaagggcagctcctcagg	9	5	17	10	0	1	0	1	0	0	0	3	3	3	2	3	6	2	3	3	6	2	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr12:49444817G>T	ENST00000301067.7	-	10	2648	c.2649C>A	c.(2647-2649)ttC>ttA	p.F883L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	883	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGGGGGAGGGAACAAGGGCA	0.642																																					p.F883L													.	.			0			c.C2649A												50	56	54					12																	49444817		2014	4176	6190	SO:0001583	missense	8085	exon10			GGGAGGGAACAAG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2649C>A	12.37:g.49444817G>T	ENSP00000301067:p.Phe883Leu		135	0	0		170	0.25	43	NM_003482	3	0	0	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266086	0.10294	.	.	ENSG00000167548	ENST00000301067	T	0.78481	-1.18	3.51	0.458	0.16670	.	.	.	.	.	T	0.59636	0.2208	N	0.19112	0.55	0.22911	N	0.998573	B	0.02656	0.0	B	0.01281	0.0	T	0.51100	-0.8748	9	0.87932	D	0	.	4.0353	0.09727	0.2338:0.0:0.5672:0.199	.	883	O14686	MLL2_HUMAN	L	883	ENSP00000301067:F883L	ENSP00000301067:F883L	F	-	3	2	MLL2	47731084	0.093000	0.21703	0.260000	0.24451	0.549000	0.35272	-0.024000	0.12435	0.091000	0.17302	0.563000	0.77884	TTC			0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390183.2				T	49444817	G	T	49444817	3	4	73	1	0	0	0	0	1	0	0	0	9637	1165	41	3	14144	3	MLL2	12	49444817	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10		49444817	84407078	46	5239											
ATF7	11016	mdanderson.org	37	chr12	53918385	53918385	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaagtgagttcttcggccTtcttctctagggaggacacc	8	11	12	10	1	3	2	0	1	3	1	5	5	3	4	2	3	0	1	2	3	2	5			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr12:53918385T>A	ENST00000548446.2	-	10	1233	c.1121A>T	c.(1120-1122)aAg>aTg	p.K374M	RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.K363M|ATF7_ENST00000415113.1_Missense_Mutation_p.K342M|ATF7_ENST00000328463.7_Missense_Mutation_p.K374M|ATF7_ENST00000456903.4_Missense_Mutation_p.K363M|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000420353.2_Missense_Mutation_p.K363M			P17544	ATF7_HUMAN	activating transcription factor 7	374	Essential for binding adenovirus 2 E1A.|Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	TTCTTCGGCCTTCTTCTCTAG	0.537																																					p.K363M													.	.			0			c.A1088T												68	66	67					12																	53918385		1880	4100	5980	SO:0001583	missense	11016	exon10			TCGGCCTTCTTCT	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1121A>T	12.37:g.53918385T>A	ENSP00000449938:p.Lys374Met		69	0	0		59	0.05	3	NM_006856	15	0	0	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37		.	.	.	.	.	.	.	.	.	.	T	22.2	4.252131	0.80135	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.32	5.32	0.75619	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.90870	3.155	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.995;0.992	D	0.85132	0.0975	10	0.87932	D	0	-14.3655	14.7093	0.69215	0.0:0.0:0.0:1.0	.	342;363;374	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	M	374;374;187;342;363;363	ENSP00000449938:K374M;ENSP00000329212:K374M;ENSP00000404880:K342M;ENSP00000399465:K363M;ENSP00000387406:K363M	ENSP00000304187:K187M	K	-	2	0	ATF7	52204652	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.082000	0.71318	2.371000	0.80710	0.533000	0.62120	AAG			0.537	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000406302.2		NM_001130059		A	53918385	T	A	53918385	3	1	73	1	0	0	0	0	1	0	0	0	1086	1609	56	5	375	5	ATF7	12	53918385	Missense_Mutation	SNP	T	TCGA-2G-AALW-01A-11D-A42Y-10	4473568	53918385	79933510	47	5240											
OAS3	4940	mdanderson.org	37	chr12	113376380	113376380	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgctggacaggttcgtGgccagaaggctgcagccgcg	6	6	17	12	4	0	1	0	0	0	1	1	2	0	2	2	4	3	5	2	4	1	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr12:113376380G>T	ENST00000228928.7	+	1	224	c.45G>T	c.(43-45)gtG>gtT	p.V15V	OAS3_ENST00000548514.1_Silent_p.V15V|OAS3_ENST00000546638.1_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.V15V	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	15	OAS domain 1.				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						ACAGGTTCGTGGCCAGAAGGC	0.726																																					p.V15V													.	.			0			c.G45T												12	14	13					12																	113376380		1783	3985	5768	SO:0001819	synonymous_variant	4940	exon1			GTTCGTGGCCAGA	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.45G>T	12.37:g.113376380G>T			27	0	0		36	0.08	3	NM_006187	18	0	0	Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	CCDS44981.1																																																																																					0.726	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405920.1				T	113376380	G	T	113376380	2	4	73	1	0	0	0	0	0	0	0	1	10818	1335	47	3		3	OAS3	12	113376380	Silent	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	59457995	113376380	20475515	48	5241											
RIMBP2	23504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	130919365	130919365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagtcataggcgtcctcctCgtctgaggcggcgtactgcc	6	9	13	13	4	2	2	1	1	1	1	5	2	4	2	3	3	2	1	3	3	2	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr12:130919365C>T	ENST00000261655.4	-	11	2279	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	RIMBP2_ENST00000536002.1_Missense_Mutation_p.E614K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.E614K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	706					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCGTCCTCCTCGTCTGAGGCG	0.597																																					p.E706K													.	.			0			c.G2116A												68	74	72					12																	130919365		2203	4300	6503	SO:0001583	missense	23504	exon11			CCTCCTCGTCTGA	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2116G>A	12.37:g.130919365C>T	ENSP00000261655:p.Glu706Lys		58	0	0		81	0.33	27	NM_015347	1	1	1	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335112	0.81801	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20738	2.05;2.42;2.42	5.0	5.0	0.66597	.	0.261592	0.36519	N	0.002547	T	0.42787	0.1218	M	0.63843	1.955	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;0.983	D;D;P	0.87578	0.986;0.998;0.532	T	0.18493	-1.0335	10	0.13853	T	0.58	-19.4244	18.3226	0.90243	0.0:1.0:0.0:0.0	.	614;614;706	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	K	706;614;614;614	ENSP00000261655:E706K;ENSP00000440347:E614K;ENSP00000439159:E614K	ENSP00000261655:E706K	E	-	1	0	RIMBP2	129485318	1.000000	0.71417	0.998000	0.56505	0.089000	0.18198	7.740000	0.84986	2.309000	0.77851	0.561000	0.74099	GAG			0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399520.1		NM_015347		T	130919365	C	T	130919365	3	4	73	1	0	0	0	0	1	0	0	0	13386	893	31	1	1078	1	RIMBP2	12	130919365	Missense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	17542985	130919365	2932530	49	5242											
ERCC5	2073	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	103520594	103520594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggcatggcctggaacctCtcctaaaattctcgtaaggt	9	11	10	11	1	2	0	0	0	2	0	4	1	2	1	3	4	1	2	3	4	4	3			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr13:103520594C>G	ENST00000355739.4	+	12	4088	c.2665C>G	c.(2665-2667)Ctc>Gtc	p.L889V	ERCC5_ENST00000375954.1_Missense_Mutation_p.L122V|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S1314C	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	889					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCTGGAACCTCTCCTAAAATT	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.L1343V			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	ERCC5,NS,malignant_melanoma,0,1	ERCC5	0	1	0			c.C4027G												75	81	79					13																	103520594		2203	4300	6503	SO:0001583	missense	0	exon20	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	GAACCTCTCCTAA	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2665C>G	13.37:g.103520594C>G	ENSP00000347978:p.Leu889Val		226	0.0088495575	2		157	0.47	74	NM_001204425	48	0.33	16	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543120	0.86022	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.10960	2.98;2.82	4.71	4.71	0.59529	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.131035	0.52532	D	0.000068	T	0.41282	0.1152	M	0.92026	3.265	0.80722	D	1	D;D	0.65815	0.968;0.995	P;D	0.65443	0.773;0.935	T	0.54689	-0.8256	10	0.56958	D	0.05	-3.336	17.6425	0.88140	0.0:1.0:0.0:0.0	.	889;1314	P28715;Q59FZ7	ERCC5_HUMAN;.	V	1314;889;721;122	ENSP00000347978:L889V;ENSP00000365121:L122V	ENSP00000347978:L889V	L	+	1	0	ERCC5	102318595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.185000	0.69588	0.491000	0.48974	CTC			0.363	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045708.1				G	103520594	C	G	103520594	3	3	73	1	0	0	0	0	1	0	0	0	5223	913	32	5	2711	5	ERCC5	13	103520594	Missense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10		103520594	11649284	50	5243											
IRF9	10379	mdanderson.org	37	chr14	24634055	24634055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcttcgtgcagcgcctttgCcccatccccatctcctggaa	5	11	7	18	2	2	0	0	0	2	0	5	1	3	1	6	1	3	1	6	1	1	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr14:24634055C>T	ENST00000396864.3	+	7	1169	c.882C>T	c.(880-882)tgC>tgT	p.C294C	IRF9_ENST00000557894.1_Silent_p.C192C|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	294					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGCGCCTTTGCCCCATCCCCA	0.667																																					p.C294C													.	.			0			c.C882T												65	65	65					14																	24634055		2203	4300	6503	SO:0001819	synonymous_variant	10379	exon7			CCTTTGCCCCATC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.882C>T	14.37:g.24634055C>T			29	0	0		31	0.1	3	NM_006084	118	0	0	D3DS61	Silent	SNP	ENST00000396864.3	37	CCDS9615.1																																																																																					0.667	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071927.2				T	24634055	C	T	24634055	2	4	73	1	0	0	0	0	0	0	0	1	7852	747	26	2		2	IRF9	14	24634055	Silent	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10		24634055	82715485	51	5244											
E4F1	1877	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2284682	2284682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaagggctcactggtgcgGcacgtgcgacaccacacagg	10	4	15	12	3	1	1	1	0	0	1	1	3	1	1	1	4	2	2	1	4	1	0			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr16:2284682G>A	ENST00000301727.4	+	11	1740	c.1692G>A	c.(1690-1692)cgG>cgA	p.R564R	DNASE1L2_ENST00000320700.5_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000565090.1_Silent_p.R387R|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000564139.1_Silent_p.R564R|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	564	Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CACTGGTGCGGCACGTGCGAC	0.637																																					p.R564R													.	.			0			c.G1692A												21	17	18					16																	2284682		2181	4292	6473	SO:0001819	synonymous_variant	1877	exon11			GGTGCGGCACGTG	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1692G>A	16.37:g.2284682G>A			104	0	0		168	0.24	40	NM_004424	36	0.19	7	A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	CCDS32370.1																																																																																					0.637	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435225.1		NM_004424		A	2284682	G	A	2284682	2	1	73	1	0	0	0	0	0	0	0	1	4879	1190	42	2		2	E4F1	16	2284682	Silent	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10		2284682	88070071	52	5245											
MEFV	4210	mdanderson.org	37	chr16	3304520	3304520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccggggcttctcccgcccGgcagggccgggctccgggtc	1	5	18	17	5	1	0	0	0	1	0	4	0	2	0	5	7	0	3	5	7	0	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr16:3304520G>A	ENST00000219596.1	-	2	587	c.548C>T	c.(547-549)cCg>cTg	p.P183L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	183					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						TCTCCCGCCCGGCAGGGCCGG	0.756																																					p.P183L													.	.			0			c.C548T												3	4	3					16																	3304520		1639	3365	5004	SO:0001583	missense	4210	exon2			CCGCCCGGCAGGG	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.548C>T	16.37:g.3304520G>A	ENSP00000219596:p.Pro183Leu		24	0	0		42	0.07	3	NM_000243	1	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	8.793	0.930991	0.18131	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.61742	0.08	4.07	-6.27	0.02026	.	1.765980	0.02905	N	0.135918	T	0.28566	0.0707	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09314	-1.0680	10	0.46703	T	0.11	.	1.7545	0.02979	0.4388:0.2484:0.187:0.1258	.	183	O15553	MEFV_HUMAN	L	183	ENSP00000219596:P183L	ENSP00000219596:P183L	P	-	2	0	MEFV	3244521	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.046000	0.03525	-1.353000	0.02191	-0.806000	0.03193	CCG			0.756	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251464.1		NM_000243		A	3304520	G	A	3304520	3	1	73	1	0	0	0	0	1	0	0	0	9475	1116	39	1	1833	1	MEFV	16	3304520	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	1019838	3304520	87050233	53	5246											
NKD1	85407	mdanderson.org	37	chr16	50659443	50659443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggacagccggcaggagtgGaccttcaccctgtatgactt	9	8	13	11	1	1	1	1	1	0	0	1	5	1	4	3	4	1	2	3	4	1	3			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr16:50659443G>T	ENST00000268459.3	+	6	638	c.414G>T	c.(412-414)tgG>tgT	p.W138C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	138	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				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)		GGCAGGAGTGGACCTTCACCC	0.607																																					p.W138C													.	.			0			c.G414T												102	87	92					16																	50659443		2198	4300	6498	SO:0001583	missense	85407	exon6			GGAGTGGACCTTC	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.414G>T	16.37:g.50659443G>T	ENSP00000268459:p.Trp138Cys		42	0	0		48	0.06	3	NM_033119	2	0	0	B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729685	0.89390	.	.	ENSG00000140807	ENST00000268459	T	0.00605	6.27	5.46	5.46	0.80206	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32851	-0.9891	10	0.87932	D	0	-13.8489	18.9261	0.92546	0.0:0.0:1.0:0.0	.	138	Q969G9	NKD1_HUMAN	C	138	ENSP00000268459:W138C	ENSP00000268459:W138C	W	+	3	0	NKD1	49216944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.775000	0.98995	2.551000	0.86045	0.655000	0.94253	TGG			0.607	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256873.1				T	50659443	G	T	50659443	3	4	73	1	0	0	0	0	1	0	0	0	10458	1183	41	3	436	3	NKD1	16	50659443	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	47354923	50659443	39695310	54	5247											
VPS53	55275	mdanderson.org	37	chr17	531342	531342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacatcttggttttcttGaaaaagtaccagatactctg	12	14	6	9	0	4	2	1	1	3	1	4	2	4	2	1	1	2	2	1	1	4	6			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr17:531342G>T	ENST00000571805.1	-	9	953	c.817C>A	c.(817-819)Caa>Aaa	p.Q273K	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.Q75K|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.Q244K|VPS53_ENST00000437048.2_Missense_Mutation_p.Q273K			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	273					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)		TGGTTTTCTTGAAAAAGTACC	0.343																																					p.Q273K													.	.			0			c.C817A												136	127	130					17																	531342		2203	4300	6503	SO:0001583	missense	55275	exon9			TTTCTTGAAAAAG		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.817C>A	17.37:g.531342G>T	ENSP00000459312:p.Gln273Lys		49	0	0		92	0.04	4	NM_001128159	17	0	0	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37		.	.	.	.	.	.	.	.	.	.	G	16.59	3.166880	0.57476	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074	T;T;T	0.28454	1.61;1.61;1.61	5.9	5.9	0.94986	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	M	0.66939	2.045	0.80722	D	1	B;B;B;B	0.31274	0.317;0.202;0.24;0.202	B;B;B;B	0.36030	0.164;0.138;0.216;0.138	T	0.14227	-1.0480	10	0.41790	T	0.15	-17.9231	19.2604	0.93966	0.0:0.0:1.0:0.0	.	273;75;273;244	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	K	273;75;244	ENSP00000401435:Q273K;ENSP00000394386:Q75K;ENSP00000291074:Q244K	ENSP00000291074:Q244K	Q	-	1	0	VPS53	478092	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.793000	0.96121	0.563000	0.77884	CAA			0.343	VPS53-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000436940.2		NM_018289		T	531342	G	T	531342	3	4	73	1	0	0	0	0	1	0	0	0	17239	1299	45	3	1752	3	VPS53	17	531342	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10		531342	80663868	55	5248											
TAOK1	57551	mdanderson.org	37	chr17	27844489	27844489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctaaatgaaaaccagAgtacccccaaaaaagaaaaa	23	3	7	8	0	0	3	0	1	0	2	0	4	0	4	3	1	3	2	3	1	10	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr17:27844489A>G	ENST00000261716.3	+	16	2242	c.1723A>G	c.(1723-1725)Agt>Ggt	p.S575G	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	575					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGAAAACCAGAGTACCCCCAA	0.463																																					p.S575G													.	.			0			c.A1723G												95	100	99					17																	27844489		2203	4300	6503	SO:0001583	missense	57551	exon16			AACCAGAGTACCC	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1723A>G	17.37:g.27844489A>G	ENSP00000261716:p.Ser575Gly		57	0	0		61	0.05	3	NM_020791	7	0	0	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.040740	0.75732	.	.	ENSG00000160551	ENST00000261716	T	0.49139	0.79	5.9	5.9	0.94986	Protein kinase-like domain (1);	0.091433	0.85682	D	0.000000	T	0.59878	0.2226	M	0.73598	2.24	0.80722	D	1	P	0.45474	0.859	P	0.48873	0.593	T	0.63646	-0.6590	10	0.56958	D	0.05	.	16.378	0.83412	1.0:0.0:0.0:0.0	.	575	Q7L7X3	TAOK1_HUMAN	G	575	ENSP00000261716:S575G	ENSP00000261716:S575G	S	+	1	0	TAOK1	24868615	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.413000	0.66399	2.277000	0.76020	0.529000	0.55759	AGT			0.463	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447790.1		NM_020791		G	27844489	A	G	27844489	3	3	73	1	0	0	0	0	1	0	0	0	15570	304	11	4	1781	4	TAOK1	17	27844489	Missense_Mutation	SNP	A	TCGA-2G-AALW-01A-11D-A42Y-10	27313147	27844489	53350721	56	5249											
MYCBPAP	84073	broad.mit.edu	37	chr17	48585969	48585969	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccgttggctggcgggTgcggcgcagcctcggtgtct	1	8	20	12	6	1	0	0	0	1	0	2	0	1	0	2	7	2	3	2	7	0	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr17:48585969T>G	ENST00000323776.5	+	1	225	c.63T>G	c.(61-63)ggT>ggG	p.G21G	RP11-94C24.6_ENST00000502300.1_lincRNA|MYCBPAP_ENST00000419930.1_Silent_p.G21G|MYCBPAP_ENST00000436259.2_5'Flank	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)			GGCTGGCGGGTGCGGCGCAGC	0.677																																					p.G21G													.	MYCBPAP	135		0			c.T63G												4	6	5					17																	48585969		2028	4011	6039	SO:0001819	synonymous_variant	84073	exon1			GGCGGGTGCGGCG	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.63T>G	17.37:g.48585969T>G			120	0.2666666667	32		168	0.3	50	NM_032133	2	0	0		Silent	SNP	ENST00000323776.5	37	CCDS32680.2																																																																																					0.677	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347814.1		NM_032133		G	48585969	T	G	48585969	2	3	73	1	0	0	0	0	0	0	0	1	10035	1683	59	4		4	MYCBPAP	17	48585969	Silent	SNP	T	TCGA-2G-AALW-01A-11D-A42Y-10	20741480	48585969	32609241	57	5250											
LINGO3	645191	mdanderson.org	37	chr19	2291582	2291582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggttcaggcagcggatgCggttgcggctgagctccagc	5	7	17	12	4	1	1	1	1	0	0	2	2	2	2	2	5	5	5	2	5	0	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr19:2291582C>T	ENST00000585527.1	-	1	441	c.194G>A	c.(193-195)cGc>cAc	p.R65H	LINGO3_ENST00000404279.1_Missense_Mutation_p.R65H			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	65						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GCAGCGGATGCGGTTGCGGCT	0.761																																					p.R65H													.	.			0			c.G194A												5	6	6					19																	2291582		2018	4041	6059	SO:0001583	missense	645191	exon2			CGGATGCGGTTGC	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.194G>A	19.37:g.2291582C>T	ENSP00000467753:p.Arg65His		13	0	0		17	0.12	2	NM_001101391	2	0	0		Missense_Mutation	SNP	ENST00000585527.1	37	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	c	16.37	3.105564	0.56291	.	.	ENSG00000220008	ENST00000404279	T	0.33865	1.39	3.89	3.89	0.44902	.	.	.	.	.	T	0.33673	0.0871	L	0.49126	1.545	0.58432	D	0.999996	P	0.43885	0.82	B	0.38985	0.287	T	0.26608	-1.0098	9	0.41790	T	0.15	.	15.2339	0.73413	0.0:1.0:0.0:0.0	.	65	P0C6S8	LIGO3_HUMAN	H	65	ENSP00000384979:R65H	ENSP00000384979:R65H	R	-	2	0	LINGO3	2242582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.999000	0.49473	1.875000	0.54330	0.462000	0.41574	CGC			0.761	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000451291.2		NM_001101391		T	2291582	C	T	2291582	3	4	73	1	0	0	0	0	1	0	0	0	8831	768	27	1	1588	1	LINGO3	19	2291582	Missense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10		2291582	56837401	58	5251											
DOCK6	57572	mdanderson.org	37	chr19	11353781	11353781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacgacgggcgcctcatGtcagccaggaacttgaagag	11	5	15	10	3	2	2	2	1	0	1	2	5	2	4	2	3	2	0	2	3	2	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr19:11353781G>T	ENST00000294618.7	-	13	1445	c.1434C>A	c.(1432-1434)gaC>gaA	p.D478E		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	478					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						GGCGCCTCATGTCAGCCAGGA	0.622											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D478E													.	.			0			c.C1434A												75	83	80					19																	11353781		2096	4229	6325	SO:0001583	missense	57572	exon13			CCTCATGTCAGCC		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.1434C>A	19.37:g.11353781G>T	ENSP00000294618:p.Asp478Glu		73	0	0	671	48	0.06	3	NM_020812	15	0	0	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663551	0.29515	.	.	ENSG00000130158	ENST00000294618	T	0.75367	-0.93	4.32	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	L	0.37897	1.145	0.80722	D	1	P	0.51147	0.942	P	0.54346	0.749	T	0.62918	-0.6752	10	0.18710	T	0.47	-32.4209	6.2463	0.20820	0.3048:0.0:0.6952:0.0	.	478	Q96HP0	DOCK6_HUMAN	E	478	ENSP00000294618:D478E	ENSP00000294618:D478E	D	-	3	2	DOCK6	11214781	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.733000	0.26087	0.804000	0.34136	0.462000	0.41574	GAC			0.622	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453155.1		NM_020812		T	11353781	G	T	11353781	3	4	73	1	0	0	0	0	1	0	0	0	4696	1368	48	3	4853	3	DOCK6	19	11353781	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	9062199	11353781	47775202	59	5252											
KLK5	25818	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	51453209	51453209	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacagcgcggcctgccaCggctgggtgtgcatatcgca	8	6	14	13	4	0	0	0	0	0	0	1	0	0	0	2	3	5	4	2	3	2	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr19:51453209C>A	ENST00000336334.3	-	3	589	c.237G>T	c.(235-237)ccG>ccT	p.P79P	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000593428.1_Silent_p.P79P|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Silent_p.P79P	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CGGCCTGCCACGGCTGGGTGT	0.652																																					p.P79P													.	.			0			c.G237T												48	39	42					19																	51453209		2203	4300	6503	SO:0001819	synonymous_variant	25818	exon3			CTGCCACGGCTGG	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.237G>T	19.37:g.51453209C>A			68	0	0		47	0.45	21	NM_012427	0		0	Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	CCDS12810.1																																																																																					0.652	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465057.1		NM_012427		A	51453209	C	A	51453209	2	1	73	1	0	0	0	0	0	0	0	1	8422	523	19	1		1	KLK5	19	51453209	Silent	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	40099428	51453209	7675774	60	5253											
NCAM2	4685	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr21	22664454	22664454	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttagcaaacaataaccTgcagattctcaacatcaata	17	11	4	9	0	2	1	2	0	1	1	3	1	2	1	1	0	5	3	1	0	8	5			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr21:22664454T>A	ENST00000400546.1	+	5	761	c.512T>A	c.(511-513)cTg>cAg	p.L171Q	NCAM2_ENST00000535285.1_Missense_Mutation_p.L196Q|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Missense_Mutation_p.L29Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	171	Ig-like C2-type 2.				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)		AACAATAACCTGCAGATTCTC	0.393																																					p.L171Q													.	NCAM2	220		0			c.T512A												148	137	140					21																	22664454		1833	4101	5934	SO:0001583	missense	4685	exon5			ATAACCTGCAGAT		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.512T>A	21.37:g.22664454T>A	ENSP00000383392:p.Leu171Gln		125	0.008	1		159	0.18	28	NM_004540	0		0	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483996	0.84854	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;D;T	0.92397	-0.33;-3.03;-0.33	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.99090	4.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.99;1.0;1.0	D	0.99334	1.0910	10	0.87932	D	0	-8.2878	14.6778	0.68993	0.0:0.0:0.0:1.0	.	196;29;171	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	Q	171;29;196	ENSP00000383392:L171Q;ENSP00000284894:L29Q;ENSP00000441887:L196Q	ENSP00000284894:L29Q	L	+	2	0	NCAM2	21586325	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.636000	0.83301	2.206000	0.71126	0.533000	0.62120	CTG			0.393	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000170915.1		NM_004540		A	22664454	T	A	22664454	3	1	73	1	0	0	0	0	1	0	0	0	10220	1580	55	5	530	5	NCAM2	21	22664454	Missense_Mutation	SNP	T	TCGA-2G-AALW-01A-11D-A42Y-10		22664454	25465441	61	5254											
COL18A1	80781	broad.mit.edu	37	chr21	46876429	46876430	+	Frame_Shift_Ins	INS	-	-	C																															gctcggggctgaccccgaggINScccccgccggtcgctgcctg																										TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr21:46876429_46876430insC	ENST00000359759.4	+	1	1006_1007	c.985_986insC	c.(985-987)gccfs	p.A329fs	COL18A1_ENST00000355480.5_Intron|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	329	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGACCCCGAGGCCCCCGCCGGT	0.673																																					.													.	COL18A1	129		0			.																																									SO:0001589	frameshift_variant	80781	.			CCCGAGGCCCCCG		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.990dupC	21.37:g.46876434_46876434dupC	ENSP00000352798:p.Ala329fs		37	0	0		74	0.05	4	.	1	0	0	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Ins	INS	ENST00000359759.4	37																																																																																						0.673	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000206827.1				C	46876430	-	C	46876429	7	5	73	1	0	1	1	0	0	0	0	0	3677	1203	42	0	1101	0	COL18A1	21	46876429	Frame_Shift_Ins	INS	-	TCGA-2G-AALW-01A-11D-A42Y-10	24211975	46876429	1253466	62	5255											
MORC2	22880	mdanderson.org	37	chr22	31337530	31337530	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcataggcacggaacgaGcgccgctctggcttcctgga	7	6	15	13	5	1	0	0	0	1	0	2	3	2	2	2	5	2	4	2	5	2	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr22:31337530G>T	ENST00000397641.3	-	9	1122	c.714C>A	c.(712-714)cgC>cgA	p.R238R	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Silent_p.R176R			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	238						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CACGGAACGAGCGCCGCTCTG	0.577																																					p.R176R													.	.			0			c.C528A												58	49	52					22																	31337530		2203	4300	6503	SO:0001819	synonymous_variant	22880	exon10			GAACGAGCGCCGC	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.714C>A	22.37:g.31337530G>T			59	0	0		53	0.06	3	NM_014941	37	0	0	B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37																																																																																						0.577	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000321710.2		NM_014941		T	31337530	G	T	31337530	2	4	73	1	0	0	0	0	0	0	0	1	9718	958	34	2		2	MORC2	22	31337530	Silent	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10		31337530	19967036	63	5256											
BAIAP2L2	80115	mdanderson.org	37	chr22	38503888	38503888	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtcagagttcaagtgccGctgggtgtcagacatctgca	9	9	13	10	1	4	2	3	0	1	2	4	2	4	2	1	2	2	3	1	2	1	1			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chr22:38503888G>T	ENST00000381669.3	-	4	391	c.247C>A	c.(247-249)Cgg>Agg	p.R83R	BAIAP2L2_ENST00000332536.5_Silent_p.R83R	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	83	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TTCAAGTGCCGCTGGGTGTCA	0.622																																					p.R83R													.	.			0			c.C247A												103	109	107					22																	38503888		2061	4206	6267	SO:0001819	synonymous_variant	80115	exon4			AGTGCCGCTGGGT	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.247C>A	22.37:g.38503888G>T			65	0	0		51	0.06	3	NM_025045	38	0	0	B0QYE2|Q96BG7	Silent	SNP	ENST00000381669.3	37	CCDS43018.1																																																																																					0.622	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321727.1		NM_025045		T	38503888	G	T	38503888	2	4	73	1	0	0	0	0	0	0	0	1	1303	1086	38	1		1	BAIAP2L2	22	38503888	Silent	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	7166358	38503888	12800678	64	5257											
TLR7	51284	broad.mit.edu;bcgsc.ca	37	chrX	12903721	12903721	+	Frame_Shift_Del	DEL	A	A	-																															ttggggctagatggtttcctAaaactctgccctgtgatgtc																										TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chrX:12903721delA	ENST00000380659.3	+	3	233	c.94delA	c.(94-96)aaafs	p.K32fs		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	32					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|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-gamma biosynthetic process (GO:0045078)|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 NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ATGGTTTCCTAAAACTCTGCC	0.418																																					p.K32fs													.	TLR7	125		0			c.94delA												143	134	137					X																	12903721		2203	4300	6503	SO:0001589	frameshift_variant	51284	exon3			TTTCCTAAAACTC	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.94delA	X.37:g.12903721delA	ENSP00000370034:p.Lys32fs		272	0	0		369	0.18	67	NM_016562	7	0	0	D1CS69|Q9NR98	Frame_Shift_Del	DEL	ENST00000380659.3	37	CCDS14151.1																																																																																					0.418	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055769.1		NM_016562		-	12903721	A	-	12903721	7	5	73	1	0	1	0	1	0	0	0	0	15979	363	13	0	100	0	TLR7	23	12903721	Frame_Shift_Del	DEL	A	TCGA-2G-AALW-01A-11D-A42Y-10		12903721	142366839	65	5258											
CYLC1	1538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	83128817	83128817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacacaaagaagtacccAgagtctactgatactgaatc	17	7	8	9	0	1	4	0	2	1	2	2	5	1	5	1	1	3	1	1	1	7	3			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chrX:83128817A>G	ENST00000329312.4	+	4	1138	c.1101A>G	c.(1099-1101)ccA>ccG	p.P367P		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	367					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						agaaGTACCCAGAGTCTACTG	0.343																																					p.P367P													.	.			0			c.A1101G												34	30	32					X																	83128817		2189	4291	6480	SO:0001819	synonymous_variant	1538	exon4			GTACCCAGAGTCT	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1101A>G	X.37:g.83128817A>G			80	0	0		136	0.47	64	NM_021118	0		0	A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																					0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057371.1		NM_021118		G	83128817	A	G	83128817	2	3	73	1	0	0	0	0	0	0	0	1	4143	175	7	4		4	CYLC1	23	83128817	Silent	SNP	A	TCGA-2G-AALW-01A-11D-A42Y-10	70225096	83128817	72141743	66	5259											
RHOXF1	158800	mdanderson.org	37	chrX	119249677	119249677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccaacatggccttctgcGcttgatgctgcccccagctg	5	10	11	15	1	1	1	0	1	1	0	1	1	1	1	4	2	5	3	4	2	1	2			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chrX:119249677G>T	ENST00000217999.2	-	1	170	c.96C>A	c.(94-96)agC>agA	p.S32R	GS1-421I3.4_ENST00000422226.1_lincRNA|RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	32					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GGCCTTCTGCGCTTGATGCTG	0.587																																					p.S32R													.	.			0			c.C96A												49	45	47					X																	119249677		2201	4298	6499	SO:0001583	missense	158800	exon1			TTCTGCGCTTGAT		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"Homeoboxes / PRD class"	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.96C>A	X.37:g.119249677G>T	ENSP00000217999:p.Ser32Arg		38	0	0		46	0.07	3	NM_139282	4	0	0	O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.840188	0.00573	.	.	ENSG00000101883	ENST00000217999	D	0.90504	-2.68	1.5	-3.0	0.05480	.	.	.	.	.	T	0.68842	0.3045	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57136	-0.7863	9	0.14656	T	0.56	.	1.5163	0.02506	0.1616:0.1815:0.4391:0.2178	.	32	Q8NHV9	RHXF1_HUMAN	R	32	ENSP00000217999:S32R	ENSP00000217999:S32R	S	-	3	2	RHOXF1	119133705	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.532000	0.02217	-1.886000	0.01116	-1.476000	0.00998	AGC			0.587	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058083.2		NM_139282		T	119249677	G	T	119249677	3	4	73	1	0	0	0	0	1	0	0	0	13370	1078	38	1	470	1	RHOXF1	23	119249677	Missense_Mutation	SNP	G	TCGA-2G-AALW-01A-11D-A42Y-10	36120860	119249677	36020883	67	5260											
GPC3	2719	broad.mit.edu	37	chrX	133119396	133119396	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtccggcggcggcggCgggggctgcgcctgtcccgg	0	5	22	14	8	0	0	0	0	0	0	2	0	2	0	3	8	1	1	3	8	0	0			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chrX:133119396C>G	ENST00000370818.3	-	1	526	c.81G>C	c.(79-81)ccG>ccC	p.P27P	GPC3_ENST00000543339.1_Silent_p.P27P|GPC3_ENST00000394299.2_Silent_p.P27P	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	27					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GCGGCGGCGGCGGGGGCTGCG	0.687			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.P27P			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3	88		0			c.G81C												14	14	14					X																	133119396		2189	4277	6466	SO:0001819	synonymous_variant	2719	exon1	Familial Cancer Database	SGBS	CGGCGGCGGGGGC	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.81G>C	X.37:g.133119396C>G			135	0.0074074074	1		250	0.02	5	NM_001164617	673	0.01	5	C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	CCDS14638.1																																																																																					0.687	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058356.1		NM_004484		G	133119396	C	G	133119396	2	3	73	1	0	0	0	0	0	0	0	1	6613	755	27	5		5	GPC3	23	133119396	Silent	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10	13869719	133119396	22151164	68	5261											
UTY	7404	mdanderson.org	37	chrY	15478190	15478190	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagaattaggatctgcctCcaaagacttttggagatact	12	11	9	9	0	1	3	0	0	1	3	2	5	2	4	3	2	2	0	3	2	4	4			TCGA-2G-AALW-01A-11D-A42Y-10	TCGA-2G-AALW-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	413dad16-996e-44ad-9776-24e1903940a6	4f4f8383-263b-44c7-b5f1-c4c9e594f26c	g.chrY:15478190C>A	ENST00000331397.4	-	10	1830	c.823G>T	c.(823-825)Gag>Tag	p.E275*	UTY_ENST00000382896.4_Nonsense_Mutation_p.E275*|UTY_ENST00000329134.5_Nonsense_Mutation_p.E275*|UTY_ENST00000540140.1_Nonsense_Mutation_p.E275*|UTY_ENST00000362096.4_Nonsense_Mutation_p.E275*|UTY_ENST00000538878.1_Nonsense_Mutation_p.E275*|UTY_ENST00000545955.1_Nonsense_Mutation_p.E275*|UTY_ENST00000537580.1_Nonsense_Mutation_p.E275*	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	275					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						GGATCTGCCTCCAAAGACTTT	0.358																																					p.E275X	Colon(103;1740 2135 40732 45171)												.	.			0			c.G823T												64	68	67					Y																	15478190		598	1946	2544	SO:0001587	stop_gained	7404	exon10			CTGCCTCCAAAGA	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.823G>T	Y.37:g.15478190C>A	ENSP00000328939:p.Glu275*		253	0.0039525692	1		43	0.07	3	NM_001258259	4	0	0	A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Nonsense_Mutation	SNP	ENST00000331397.4	37	CCDS14783.1																																																																																					0.358	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000088394.1		NM_182660		A	15478190	C	A	15478190	4	1	73	1	0	0	0	0	0	1	0	0	17131	864	30	3	3559	3	UTY	24	15478190	Nonsense_Mutation	SNP	C	TCGA-2G-AALW-01A-11D-A42Y-10		15478190	43895376	69	5262											
CHD5	26038	mdanderson.org	37	chr1	6194211	6194211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagatgagcacacggtGcccctcatcccgcagtttct	9	8	11	13	2	2	3	1	1	1	2	3	4	3	3	3	2	2	3	3	2	1	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:6194211G>T	ENST00000262450.3	-	20	3220	c.3121C>A	c.(3121-3123)Cac>Aac	p.H1041N	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)		AGCACACGGTGCCCCTCATCC	0.617																																					p.H1041N													.	.			0			c.C3121A												78	75	76					1																	6194211		2203	4300	6503	SO:0001583	missense	26038	exon20			CACGGTGCCCCTC	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.3121C>A	1.37:g.6194211G>T	ENSP00000262450:p.His1041Asn		39	0	0		34	0.09	3	NM_015557	0		0	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755006	0.89843	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.72282	-0.64	4.67	4.67	0.58626	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82697	0.5093	M	0.69523	2.12	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	D	0.83680	0.0171	10	0.48119	T	0.1	-34.2877	17.9248	0.88980	0.0:0.0:1.0:0.0	.	1041	Q8TDI0	CHD5_HUMAN	N	1041;557;449;449	ENSP00000262450:H1041N	ENSP00000262450:H1041N	H	-	1	0	CHD5	6116798	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.710000	0.98732	2.301000	0.77427	0.561000	0.74099	CAC			0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002823.2		NM_015557		T	6194211	G	T	6194211	3	4	74	1	0	0	0	0	1	0	0	0	3330	1319	46	2	2831	2	CHD5	1	6194211	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		6194211	243056410	1	5263											
SLC45A1	50651	mdanderson.org	37	chr1	8390578	8390578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccatctcgccgcccaGccccctcacgcccaagtacg	7	4	7	23	4	2	0	1	0	1	0	3	0	2	0	7	0	3	1	7	0	2	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:8390578G>A	ENST00000471889.1	+	5	1410	c.1025G>A	c.(1024-1026)aGc>aAc	p.S342N	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Missense_Mutation_p.S342N|SLC45A1_ENST00000377479.2_Missense_Mutation_p.S376N|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	342					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCCGCCCAGCCCCCTCACG	0.677																																					p.S342N													.	.			0			c.G1025A												34	33	33					1																	8390578		2203	4300	6503	SO:0001583	missense	50651	exon4			CGCCCAGCCCCCT	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1025G>A	1.37:g.8390578G>A	ENSP00000418096:p.Ser342Asn		59	0	0		75	0.05	4	NM_001080397	3	0	0	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123010	0.77436	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.31769	1.54;1.48;1.54	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.42749	-0.9433	10	0.16896	T	0.51	-40.4429	16.5386	0.84378	0.0:0.0:1.0:0.0	.	342	Q9Y2W3	S45A1_HUMAN	N	342;376;342	ENSP00000418096:S342N;ENSP00000366699:S376N;ENSP00000289877:S342N	ENSP00000289877:S342N	S	+	2	0	SLC45A1	8313165	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	9.356000	0.97091	2.121000	0.65114	0.561000	0.74099	AGC			0.677	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001245.5				A	8390578	G	A	8390578	3	1	74	1	0	0	0	0	1	0	0	0	14663	971	34	2	1039	2	SLC45A1	1	8390578	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	2196367	8390578	240860043	2	5264											
EFHD2	79180	mdanderson.org	37	chr1	15736569	15736569	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggctgaacggggcagcGgcggcggcggcgggggcacc	4	1	22	14	7	0	1	0	1	0	0	0	1	0	1	2	9	2	3	2	9	1	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:15736569G>A	ENST00000375980.4	+	1	179	c.102G>A	c.(100-102)gcG>gcA	p.A34A	RP3-467K16.4_ENST00000427824.1_lincRNA	NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	34						membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACGGGGCAGCGGCGGCGGCGG	0.776																																					p.A34A													.	.			0			c.G102A												1	1	1					1																	15736569		329	807	1136	SO:0001819	synonymous_variant	79180	exon1			GGCAGCGGCGGCG	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"EF-hand domain containing"	28670	protein-coding gene	gene with protein product	"swiprosin-1"		"EF hand domain containing 2"			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.102G>A	1.37:g.15736569G>A			15	0	0		19	0.11	2	NM_024329	0		0	Q5JYW9	Silent	SNP	ENST00000375980.4	37	CCDS155.1																																																																																					0.776	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006433.1		NM_024329		A	15736569	G	A	15736569	2	1	74	1	0	0	0	0	0	0	0	1	4954	1103	39	1		1	EFHD2	1	15736569	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	7345991	15736569	233514052	3	5265											
EPHA2	1969	bcgsc.ca	37	chr1	16462158	16462158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggagttaccttcttgcGgtaagtgacctcgtacttcc	6	14	10	11	2	2	1	0	1	2	0	4	2	3	2	3	2	3	3	3	2	3	6			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:16462158G>T	ENST00000358432.5	-	6	1574	c.1420C>A	c.(1420-1422)Cgc>Agc	p.R474S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	474	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACCTTCTTGCGGTAAGTGACC	0.632																																					p.R474S													.	EPHA2	102		0			c.C1420A												61	58	59					1																	16462158		2203	4300	6503	SO:0001583	missense	1969	exon6			TCTTGCGGTAAGT	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1420C>A	1.37:g.16462158G>T	ENSP00000351209:p.Arg474Ser		49	0	0		56	0.07	4	NM_004431	34	0	0	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576454	0.45902	.	.	ENSG00000142627	ENST00000358432	T	0.57436	0.4	5.26	5.26	0.73747	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.124523	0.36932	N	0.002339	T	0.47967	0.1474	L	0.52823	1.66	0.38527	D	0.948877	B;B	0.25312	0.123;0.001	B;B	0.24541	0.054;0.001	T	0.53034	-0.8495	10	0.59425	D	0.04	.	11.4561	0.50183	0.0:0.0:0.8201:0.1799	.	474;474	B5A968;P29317	.;EPHA2_HUMAN	S	474	ENSP00000351209:R474S	ENSP00000351209:R474S	R	-	1	0	EPHA2	16334745	0.982000	0.34865	1.000000	0.80357	0.975000	0.68041	1.463000	0.35277	2.466000	0.83321	0.556000	0.70494	CGC			0.632	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000026322.1		NM_004431		T	16462158	G	T	16462158	3	4	74	1	0	0	0	0	1	0	0	0	5174	1116	39	1	1558	1	EPHA2	1	16462158	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	725589	16462158	232788463	4	5266											
SERINC2	347735	broad.mit.edu	37	chr1	31897662	31897662	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccttcttcttctttttcAccctgctcatgctctgcgtg	2	17	7	15	2	6	0	2	0	4	0	6	0	6	0	2	1	3	2	2	1	0	5			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:31897662A>C	ENST00000373709.3	+	3	484	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	SERINC2_ENST00000536384.1_Missense_Mutation_p.T116P|SERINC2_ENST00000536859.1_Missense_Mutation_p.T116P|SERINC2_ENST00000373710.1_Missense_Mutation_p.T121P|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	112					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		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;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTTCTTTTTCACCCTGCTCAT	0.657																																					p.T121P													.	SERINC2	44		0			c.A361C												18	19	19					1																	31897662		2203	4299	6502	SO:0001583	missense	347735	exon4			TTTTTCACCCTGC	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.334A>C	1.37:g.31897662A>C	ENSP00000362813:p.Thr112Pro		75	0.1066666667	8		72	0.17	12	NM_001199038	170	0.14	24	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.027057	0.35797	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	4.3	1.86	0.25419	.	0.398700	0.29355	N	0.012382	T	0.11879	0.0289	L	0.43152	1.355	0.28690	N	0.90465	B;B;B;P	0.35328	0.33;0.33;0.33;0.495	B;B;B;B	0.41412	0.356;0.356;0.356;0.356	T	0.12192	-1.0557	10	0.41790	T	0.15	-30.1886	2.2137	0.03955	0.3941:0.0:0.1942:0.4117	.	116;121;116;112	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	P	121;116;112;116	ENSP00000362814:T121P;ENSP00000444307:T116P;ENSP00000362813:T112P;ENSP00000439048:T116P	ENSP00000362813:T112P	T	+	1	0	SERINC2	31670249	0.003000	0.15002	0.968000	0.41197	0.339000	0.28857	0.973000	0.29422	0.183000	0.20059	0.533000	0.62120	ACC			0.657	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010680.1		NM_018565		C	31897662	A	C	31897662	3	2	74	1	0	0	0	0	1	0	0	0	14103	159	6	4	344	4	SERINC2	1	31897662	Missense_Mutation	SNP	A	TCGA-2G-AALX-01A-11D-A42Y-10	15435504	31897662	217352959	5	5267											
SPOCD1	90853	mdanderson.org	37	chr1	32259490	32259490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctagcagctcattcgaggGctcccagtctgcaaatagca	10	8	10	13	1	2	0	1	0	1	0	4	1	3	0	2	1	4	5	2	1	3	3			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:32259490G>T	ENST00000360482.2	-	12	2521	c.2392C>A	c.(2392-2394)Ccc>Acc	p.P798T	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P291T|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P798T|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	798					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCATTCGAGGGCTCCCAGTCT	0.567																																					p.P798T													.	.			0			c.C2392A												79	85	83					1																	32259490		2203	4300	6503	SO:0001583	missense	90853	exon12			TCGAGGGCTCCCA	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2392C>A	1.37:g.32259490G>T	ENSP00000353670:p.Pro798Thr		39	0	0		38	0.08	3	NM_144569	4	0	0	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.636|9.636	1.137738|1.137738	0.21123|0.21123	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266|ENST00000528579	T;T;T;T|.	0.52754|.	0.7;1.68;0.65;1.68|.	4.82|4.82	0.127|0.127	0.14727|0.14727	.|.	.|.	.|.	.|.	.|.	T|T	0.40791|0.40791	0.1131|0.1131	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B|.	0.32573|.	0.031;0.376;0.1|.	B;B;B|.	0.30401|.	0.028;0.115;0.054|.	T|T	0.34700|0.34700	-0.9818|-0.9818	9|5	0.54805|.	T|.	0.06|.	-3.112|-3.112	5.7924|5.7924	0.18367|0.18367	0.3333:0.1405:0.5262:0.0|0.3333:0.1405:0.5262:0.0	.|.	798;234;798|.	Q6ZMY3-2;E9PPM7;Q6ZMY3|.	.;.;SPOC1_HUMAN|.	T|R	291;798;195;234;798;141|171	ENSP00000257100:P291T;ENSP00000353670:P798T;ENSP00000399778:P234T;ENSP00000435851:P798T|.	ENSP00000257100:P291T|.	P|S	-|-	1|3	0|2	SPOCD1|SPOCD1	32032077|32032077	0.056000|0.056000	0.20664|0.20664	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.050000|0.050000	0.14120|0.14120	-0.304000|-0.304000	0.08843|0.08843	-1.595000|-1.595000	0.00837|0.00837	CCC|AGC			0.567	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000381912.1		NM_144569		T	32259490	G	T	32259490	3	4	74	1	0	0	0	0	1	0	0	0	15101	1203	42	2	1278	2	SPOCD1	1	32259490	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	361828	32259490	216991131	6	5268											
S100PBP	64766	mdanderson.org	37	chr1	33295580	33295580	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggactaatgttccgacGttttcacagtcaaatctaga	13	12	7	9	2	4	1	3	0	1	1	5	3	5	2	1	1	0	2	1	1	4	5			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:33295580G>T	ENST00000373475.5	+	5	1190	c.936G>T	c.(934-936)acG>acT	p.T312T	S100PBP_ENST00000398243.3_Silent_p.T311T|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.T312T	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ATGTTCCGACGTTTTCACAGT	0.393																																					p.T312T													.	.			0			c.G936T												94	88	90					1																	33295580		2203	4300	6503	SO:0001819	synonymous_variant	64766	exon5			TCCGACGTTTTCA	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.936G>T	1.37:g.33295580G>T			62	0	0		44	0.07	3	NM_022753	36	0	0		Silent	SNP	ENST00000373475.5	37	CCDS30666.1																																																																																					0.393	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011266.1		NM_022753		T	33295580	G	T	33295580	2	4	74	1	0	0	0	0	0	0	0	1	13814	1132	40	1		1	S100PBP	1	33295580	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	1036090	33295580	215955041	7	5269											
CLCC1	23155	broad.mit.edu	37	chr1	109492518	109492518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagtcaggactgacatccTtttcccctgaaataccatat	13	11	5	12	0	1	2	1	2	0	0	3	3	3	3	4	1	1	0	4	1	4	4			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:109492518T>C	ENST00000369971.2	-	3	284	c.155A>G	c.(154-156)aAg>aGg	p.K52R	CLCC1_ENST00000369969.2_Missense_Mutation_p.K52R|CLCC1_ENST00000348264.2_Missense_Mutation_p.K52R|CLCC1_ENST00000369970.3_Missense_Mutation_p.K52R|CLCC1_ENST00000415331.1_Missense_Mutation_p.K52R|CLCC1_ENST00000369968.2_Missense_Mutation_p.K52R|CLCC1_ENST00000302500.4_Missense_Mutation_p.K52R|CLCC1_ENST00000356970.2_Missense_Mutation_p.K52R|CLCC1_ENST00000369976.1_Missense_Mutation_p.K52R|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	52						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)		ACTGACATCCTTTTCCCCTGA	0.279																																					p.K52R													.	CLCC1	55		0			c.A155G												58	59	59					1																	109492518		2203	4290	6493	SO:0001583	missense	23155	exon3			ACATCCTTTTCCC	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.155A>G	1.37:g.109492518T>C	ENSP00000358988:p.Lys52Arg		418	0.0023923445	1		541	0.01	5	NM_001048210	40	0	0	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272517	0.80580	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369976;ENST00000369970;ENST00000348264;ENST00000302500	T;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;0.84	5.41	5.41	0.78517	.	0.597033	0.18496	N	0.139493	T	0.42494	0.1205	M	0.62723	1.935	0.19775	N	0.999957	P;P;P;P	0.50819	0.827;0.827;0.804;0.939	P;B;P;P	0.51324	0.526;0.439;0.467;0.666	T	0.38564	-0.9655	10	0.51188	T	0.08	-5.3424	12.107	0.53818	0.0:0.0:0.0:1.0	.	52;52;52;52	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	R	52	ENSP00000349456:K52R;ENSP00000358988:K52R;ENSP00000411591:K52R;ENSP00000358986:K52R;ENSP00000358985:K52R;ENSP00000358993:K52R;ENSP00000358987:K52R;ENSP00000337243:K52R;ENSP00000306552:K52R	ENSP00000306552:K52R	K	-	2	0	CLCC1	109294041	0.008000	0.16893	0.271000	0.24616	0.493000	0.33554	1.671000	0.37513	2.166000	0.68216	0.460000	0.39030	AAG			0.279	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032405.1		NM_015127		C	109492518	T	C	109492518	3	2	74	1	0	0	0	0	1	0	0	0	3462	1609	56	4	1536	4	CLCC1	1	109492518	Missense_Mutation	SNP	T	TCGA-2G-AALX-01A-11D-A42Y-10	76196938	109492518	139758103	8	5270											
RGS4	5999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	163043412	163043412	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtccaggcaaccaaagaGgtaggttttttatggataca	13	11	10	7	0	1	1	1	0	0	1	2	2	2	2	2	4	2	3	2	4	5	5			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:163043412G>A	ENST00000367909.6	+	4	718	c.378G>A	c.(376-378)gaG>gaA	p.E126E	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367906.3_Splice_Site_p.E108E|RGS4_ENST00000367908.4_Intron|RGS4_ENST00000421743.2_Splice_Site_p.E223E|RGS4_ENST00000527809.1_Splice_Site_p.E108E|RGS4_ENST00000531057.1_Intron	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	126	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CAACCAAAGAGGTAGGttttt	0.338																																					p.E223E	Ovarian(76;1257 1738 3039 6086)												.	.			0			c.G669A												61	56	58					1																	163043412		2203	4299	6502	SO:0001630	splice_region_variant	5999	exon5			CAAAGAGGTAGGT	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.378+1G>A	1.37:g.163043412G>A			114	0	0		133	0.23	31	NM_001102445	17	0.35	6	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Silent	SNP	ENST00000367909.6	37	CCDS1243.1																																																																																					0.338	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083197.2		NM_005613	Silent	A	163043412	G	A	163043412	5	1	74	1	0	0	0	0	0	0	1	0	13330	1014	35	3	687	3	RGS4	1	163043412	Splice_Site	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	53550894	163043412	86207209	9	5271											
ATP2B4	493	hgsc.bcm.edu;broad.mit.edu	37	chr1	203667380	203667380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagactttcttagaattaGtgtgggaagctcttcaagat	12	13	9	7	0	3	3	1	0	2	3	3	4	3	4	1	1	1	1	1	1	6	4			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr1:203667380G>T	ENST00000357681.5	+	3	1412	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	ATP2B4_ENST00000367219.3_Missense_Mutation_p.V97L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.V97L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.V97L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.V97L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	97					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)			CTTAGAATTAGTGTGGGAAGC	0.493																																					p.V97L													.	.			0			c.G289T												126	113	117					1																	203667380		2203	4300	6503	SO:0001583	missense	493	exon3			GAATTAGTGTGGG	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.289G>T	1.37:g.203667380G>T	ENSP00000350310:p.Val97Leu		93	0	0		98	0.05	5	NM_001001396	27	0	0	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748672	0.89753	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	4.95	4.95	0.65309	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.44097	D	0.000488	D	0.85323	0.5670	M	0.69523	2.12	0.80722	D	1	D;B;B	0.69078	0.997;0.097;0.302	D;B;P	0.79108	0.992;0.166;0.521	D	0.85061	0.0934	10	0.42905	T	0.14	-21.2251	18.1654	0.89723	0.0:0.0:1.0:0.0	.	97;97;97	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	L	97	ENSP00000350310:V97L;ENSP00000356187:V97L;ENSP00000356188:V97L;ENSP00000375816:V97L;ENSP00000340930:V97L	ENSP00000340930:V97L	V	+	1	0	ATP2B4	201934003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.959000	0.87885	2.467000	0.83353	0.655000	0.94253	GTG			0.493	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087462.1		NM_001001396		T	203667380	G	T	203667380	3	4	74	1	0	0	0	0	1	0	0	0	1142	1029	36	3	295	3	ATP2B4	1	203667380	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	40623968	203667380	45583241	10	5272											
TTC15	51112	broad.mit.edu	37	chr2	3481509	3481509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtattttcaagacgttgAgaaagtaacacagaaattag	19	10	8	4	1	1	3	1	1	0	3	1	4	1	3	0	0	1	3	0	0	7	6			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr2:3481509A>G	ENST00000324266.5	+	10	2015	c.1820A>G	c.(1819-1821)gAg>gGg	p.E607G	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.E607G	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	607					vesicle-mediated transport (GO:0016192)												CAAGACGTTGAGAAAGTAACA	0.289																																					p.E607G													.	.			0			c.A1820G												66	71	70					2																	3481509		2203	4299	6502	SO:0001583	missense	51112	exon10			ACGTTGAGAAAGT	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1820A>G	2.37:g.3481509A>G	ENSP00000324318:p.Glu607Gly		256	0	0		336	0.02	7	NM_016030	170	0.04	6	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.82|19.82	3.899009|3.899009	0.72754|0.72754	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624|ENST00000452495	T;T;T|.	0.75260|.	-0.92;-0.92;-0.92|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74921|.	0.3780|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.71184|.	0.958;0.972|.	T|.	0.75158|.	-0.3416|.	10|.	0.56958|.	D|.	0.05|.	.|.	15.5474|15.5474	0.76118|0.76118	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	596;607|.	E7ENL7;Q8WVT3|.	.;TPC12_HUMAN|.	G|W	607;596;607;106|8	ENSP00000371544:E607G;ENSP00000324318:E607G;ENSP00000396592:E106G|.	ENSP00000303612:E596G|.	E|X	+|+	2|3	0|0	TTC15|TTC15	3460516|3460516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.414000|0.414000	0.31173|0.31173	8.286000|8.286000	0.89916|0.89916	2.322000|2.322000	0.78497|0.78497	0.528000|0.528000	0.53228|0.53228	GAG|TGA			0.289	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206693.2		NM_016030		G	3481509	A	G	3481509	3	3	74	1	0	0	0	0	1	0	0	0	16706	304	11	4	1854	4	TTC15	2	3481509	Missense_Mutation	SNP	A	TCGA-2G-AALX-01A-11D-A42Y-10		3481509	239717864	11	5273											
SNX17	9784	mdanderson.org	37	chr2	27598736	27598736	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcccagtggaagcacGagcagcccaggccggggccg	8	3	15	15	3	0	0	0	0	0	0	0	2	0	1	5	4	4	2	5	4	1	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr2:27598736G>T	ENST00000233575.2	+	11	1224	c.1002G>T	c.(1000-1002)acG>acT	p.T334T	SNX17_ENST00000543024.1_Silent_p.T120T|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Silent_p.T309T|SNX17_ENST00000542478.1_Silent_p.T120T	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	334	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)					GTGGAAGCACGAGCAGCCCAG	0.617																																					p.T334T													.	.			0			c.G1002T												50	53	52					2																	27598736		2203	4300	6503	SO:0001819	synonymous_variant	9784	exon11			AAGCACGAGCAGC	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.1002G>T	2.37:g.27598736G>T			24	0	0		36	0.08	3	NM_014748	477	0	1	B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	37	CCDS1750.1																																																																																					0.617	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215024.1		NM_014748		T	27598736	G	T	27598736	2	4	74	1	0	0	0	0	0	0	0	1	14911	1045	37	1		1	SNX17	2	27598736	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	24117227	27598736	215600637	12	5274											
STEAP3	55240	mdanderson.org	37	chr2	120005329	120005329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccatgggcttcatgccCgtggacatgggatccctggc	5	9	13	14	2	1	0	1	0	0	0	3	2	2	2	3	4	1	1	3	4	0	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr2:120005329C>T	ENST00000354888.5	+	4	1071	c.567C>T	c.(565-567)ccC>ccT	p.P189P	STEAP3_ENST00000393107.2_Silent_p.P189P|STEAP3_ENST00000425223.2_Silent_p.P189P|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Silent_p.P189P|STEAP3_ENST00000393110.2_Silent_p.P199P|STEAP3_ENST00000409811.1_Silent_p.P189P|STEAP3_ENST00000393108.2_Silent_p.P189P|STEAP3_ENST00000450943.2_Silent_p.P189P	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	189					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTTCATGCCCGTGGACATGG	0.682																																					p.P199P													.	.			0			c.C597T												39	40	40					2																	120005329		2203	4300	6503	SO:0001819	synonymous_variant	55240	exon4			CATGCCCGTGGAC	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.567C>T	2.37:g.120005329C>T			26	0	0		20	0.1	2	NM_182915	22	0	0	A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Silent	SNP	ENST00000354888.5	37	CCDS2125.1																																																																																					0.682	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254193.1		NM_018234		T	120005329	C	T	120005329	2	4	74	1	0	0	0	0	0	0	0	1	15302	639	23	1		1	STEAP3	2	120005329	Silent	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10	92406593	120005329	123194044	13	5275											
SPEG	10290	mdanderson.org	37	chr2	220313115	220313115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcgaggagcgacggcGcagcctggagcgcagcgact	7	6	16	12	6	1	0	0	0	1	0	2	5	1	2	1	3	4	3	1	3	0	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr2:220313115G>A	ENST00000312358.7	+	4	1367	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.R308H	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	412					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGCGACGGCGCAGCCTGGAG	0.746																																					p.R412H													.	.			0			c.G1235A												2	3	2					2																	220313115		1273	2922	4195	SO:0001583	missense	10290	exon4			GACGGCGCAGCCT	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.1235G>A	2.37:g.220313115G>A	ENSP00000311684:p.Arg412His		15	0	0		19	0.11	2	NM_005876	9	0	0	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028977	0.75504	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000431523;ENST00000396698	T;T;T	0.66280	-0.2;0.45;0.05	4.85	4.85	0.62838	.	0.000000	0.40818	N	0.001009	T	0.62392	0.2424	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.65113	-0.6247	10	0.62326	D	0.03	.	8.7066	0.34358	0.1715:0.0:0.8285:0.0	.	412	Q15772	SPEG_HUMAN	H	412;412;259;308	ENSP00000311684:R412H;ENSP00000410986:R259H;ENSP00000379926:R308H	ENSP00000265327:R412H	R	+	2	0	SPEG	220021359	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.149000	0.42244	2.237000	0.73441	0.462000	0.41574	CGC			0.746	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130252.2		NM_005876		A	220313115	G	A	220313115	3	1	74	1	0	0	0	0	1	0	0	0	15059	1087	38	1	1249	1	SPEG	2	220313115	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	100307786	220313115	22886258	14	5276											
ALPPL2	251	mdanderson.org	37	chr2	233271628	233271628	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caggggccctgggtgctgctCctgctgggcctgaggctaca	4	8	16	13	0	0	1	0	1	0	0	1	1	1	1	3	5	4	4	3	5	1	1	rs61730279	byFrequency	TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr2:233271628C>G	ENST00000295453.3	+	1	76	c.24C>G	c.(22-24)ctC>ctG	p.L8L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	8					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GGGTGCTGCTCCTGCTGGGCC	0.637																																					p.L8L													.	.			0			c.C24G												74	79	77					2																	233271628		2203	4300	6503	SO:0001819	synonymous_variant	251	exon1			GCTGCTCCTGCTG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.24C>G	2.37:g.233271628C>G			66	0.0151515152	1		43	0.09	4	NM_031313	0		0	A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	CCDS2491.1																																																																																					0.637	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257034.2		NM_031313		G	233271628	C	G	233271628	2	3	74	1	0	0	0	0	0	0	0	1	549	842	30	5		5	ALPPL2	2	233271628	Silent	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10	12958513	233271628	9927745	15	5277											
SCN11A	11280	mdanderson.org	37	chr3	38986945	38986945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgtttttagcaggccCtgtagccatgaacacgcagt	8	12	11	10	1	0	1	0	1	0	0	0	1	0	1	2	1	4	6	2	1	3	5			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr3:38986945C>A	ENST00000302328.3	-	3	643	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W	SCN11A_ENST00000456224.3_Missense_Mutation_p.G149W|SCN11A_ENST00000450244.1_Missense_Mutation_p.G149W|SCN11A_ENST00000444237.2_Missense_Mutation_p.G149W	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	149					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)	ttagcaggccctgtagccatg	0.413																																					p.G149W													.	.			0			c.G445T												155	139	145					3																	38986945		2203	4300	6503	SO:0001583	missense	11280	exon3			CAGGCCCTGTAGC	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.445G>T	3.37:g.38986945C>A	ENSP00000307599:p.Gly149Trp		61	0	0		53	0.06	3	NM_014139	0		0	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984439	0.35036	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	3.89	-1.27	0.09347	.	1.665100	0.02782	N	0.121008	D	0.95472	0.8529	L	0.40543	1.245	0.09310	N	1	P	0.50369	0.934	P	0.46850	0.529	D	0.89247	0.3588	10	0.87932	D	0	.	8.7661	0.34704	0.0:0.3656:0.0:0.6344	.	149	Q9UI33	SCNBA_HUMAN	W	149	ENSP00000307599:G149W;ENSP00000400945:G149W;ENSP00000416757:G149W;ENSP00000408028:G149W	ENSP00000307599:G149W	G	-	1	0	SCN11A	38961949	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.511000	0.22739	-0.249000	0.09569	-0.367000	0.07326	GGG			0.413	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109746.4		NM_014139		A	38986945	C	A	38986945	3	1	74	1	0	0	0	0	1	0	0	0	13936	681	24	3	5026	3	SCN11A	3	38986945	Missense_Mutation	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10		38986945	159035485	16	5278											
CCR9	10803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	45943034	45943034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtcttccaagcacaaaGccctaaaagtgaccatcact	16	7	6	12	0	2	2	1	1	1	1	3	2	3	2	3	0	2	1	3	0	5	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr3:45943034G>A	ENST00000357632.2	+	3	934	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.A240T|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.A240T|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	252					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CAAGCACAAAGCCCTAAAAGT	0.478																																					p.A252T													.	.			0			c.G754A												221	183	196					3																	45943034		2203	4300	6503	SO:0001583	missense	10803	exon3			CACAAAGCCCTAA	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.754G>A	3.37:g.45943034G>A	ENSP00000350256:p.Ala252Thr		92	0	0		83	0.29	24	NM_031200	0		0	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132608	0.77662	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.38077	1.16;1.16;1.16	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.204777	0.41194	D	0.000925	T	0.59307	0.2184	M	0.80028	2.48	0.51767	D	0.999937	D	0.76494	0.999	D	0.77557	0.99	T	0.64136	-0.6478	10	0.87932	D	0	.	10.3905	0.44166	0.0:0.1343:0.709:0.1567	.	252	P51686	CCR9_HUMAN	T	252;240;240	ENSP00000350256:A252T;ENSP00000379292:A240T;ENSP00000348260:A240T	ENSP00000348260:A240T	A	+	1	0	CCR9	45918038	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.468000	0.66743	2.289000	0.77006	0.563000	0.77884	GCC			0.478	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257323.2				A	45943034	G	A	45943034	3	1	74	1	0	0	0	0	1	0	0	0	2950	971	34	2	760	2	CCR9	3	45943034	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	6956089	45943034	152079396	17	5279											
PLXNB1	5364	mdanderson.org	37	chr3	48454325	48454325	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggaaggggatgccgctGcccaggaggtcactggtgag	8	6	18	9	2	1	1	1	1	0	0	2	5	1	4	2	6	2	1	2	6	1	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr3:48454325G>T	ENST00000358536.4	-	25	4949	c.4680C>A	c.(4678-4680)ggC>ggA	p.G1560G	PLXNB1_ENST00000448774.2_Silent_p.G171G|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Silent_p.G1377G|PLXNB1_ENST00000456774.1_Silent_p.G1377G|PLXNB1_ENST00000296440.6_Silent_p.G1560G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1560					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)		GGATGCCGCTGCCCAGGAGGT	0.582																																					p.G1560G													.	.			0			c.C4680A												76	71	73					3																	48454325		2203	4300	6503	SO:0001819	synonymous_variant	5364	exon25			GCCGCTGCCCAGG	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.4680C>A	3.37:g.48454325G>T			39	0	0		34	0.09	3	NM_001130082	59	0	0	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	CCDS2765.1																																																																																					0.582	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344454.1		NM_002673		T	48454325	G	T	48454325	2	4	74	1	0	0	0	0	0	0	0	1	12140	1306	46	2		2	PLXNB1	3	48454325	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	2511291	48454325	149568105	18	5280											
CNTN3	5067	mdanderson.org	37	chr3	74548917	74548917	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttctttgataaatacaggGccttgtaagagaagctcacc	12	11	10	8	0	2	2	1	1	1	1	2	3	2	2	2	2	2	3	2	2	5	6			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr3:74548917G>T	ENST00000263665.6	-	2	102	c.75C>A	c.(73-75)ggC>ggA	p.G25G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	25					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)		TAAATACAGGGCCTTGTAAGA	0.368																																					p.G25G													.	.			0			c.C75A												89	94	92					3																	74548917		2203	4300	6503	SO:0001819	synonymous_variant	5067	exon2			TACAGGGCCTTGT	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.75C>A	3.37:g.74548917G>T			58	0	0		45	0.07	3	NM_020872	5	0	0	B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	CCDS33790.1																																																																																					0.368	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352306.1		NM_020872		T	74548917	G	T	74548917	2	4	74	1	0	0	0	0	0	0	0	1	3644	1190	42	2		2	CNTN3	3	74548917	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	26094592	74548917	123473513	19	5281											
ROBO1	6091	mdanderson.org	37	chr3	78706359	78706359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagggaatgaccacggaaaAggtggaaccatccactgttt	15	7	11	8	1	0	1	0	1	0	0	1	4	1	4	3	4	1	1	3	4	5	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr3:78706359A>G	ENST00000464233.1	-	18	2616	c.2503T>C	c.(2503-2505)Ttt>Ctt	p.F835L	ROBO1_ENST00000495273.1_Missense_Mutation_p.F799L|ROBO1_ENST00000436010.2_Missense_Mutation_p.F796L|ROBO1_ENST00000467549.1_Missense_Mutation_p.F799L	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	835	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.			F -> L (in Ref. 4; AAI15023). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACCACGGAAAAGGTGGAACCA	0.478																																					p.F835L													.	.			0			c.T2503C												79	79	79					3																	78706359		1966	4172	6138	SO:0001583	missense	6091	exon18			CGGAAAAGGTGGA	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2503T>C	3.37:g.78706359A>G	ENSP00000420321:p.Phe835Leu		67	0	0		45	0.09	4	NM_002941	55	0	0	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	4.900	0.167264	0.09339	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.04	4.88	0.63580	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.391844	0.31648	N	0.007297	T	0.17577	0.0422	N	0.00392	-1.555	0.23831	N	0.996728	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.12156	0.001;0.006;0.007;0.002;0.002	T	0.20840	-1.0263	9	.	.	.	.	9.4278	0.38590	0.8637:0.0:0.1363:0.0	.	799;835;799;799;796	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	L	796;799;835;799;799;839	ENSP00000406043:F796L;ENSP00000420321:F835L;ENSP00000420637:F799L;ENSP00000417992:F799L	.	F	-	1	0	ROBO1	78789049	0.975000	0.34042	0.918000	0.36340	0.384000	0.30261	2.277000	0.43417	1.104000	0.41587	0.529000	0.55759	TTT			0.478	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352610.1		NM_002941		G	78706359	A	G	78706359	3	3	74	1	0	0	0	0	1	0	0	0	13536	72	3	4	2508	4	ROBO1	3	78706359	Missense_Mutation	SNP	A	TCGA-2G-AALX-01A-11D-A42Y-10	4157442	78706359	119316071	20	5282											
CLDN18	51208	mdanderson.org	37	chr3	137742658	137742658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgggatcatgttcattGtctcaggtaaacacagagcc	10	10	9	12	1	3	1	3	0	1	1	5	2	4	2	3	2	2	2	3	2	2	3			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr3:137742658G>T	ENST00000183605.5	+	2	605	c.379G>T	c.(379-381)Gtc>Ttc	p.V127F	CLDN18_ENST00000343735.4_Missense_Mutation_p.V127F	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	127					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CATGTTCATTGTCTCAGGTAA	0.488																																					p.V127F													.	.			0			c.G379T												77	67	70					3																	137742658		2203	4300	6503	SO:0001583	missense	51208	exon2			TTCATTGTCTCAG	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.379G>T	3.37:g.137742658G>T	ENSP00000183605:p.Val127Phe		57	0	0		49	0.06	3	NM_016369	4	0	0	A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000183605.5	37	CCDS3095.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436414	0.25813	.	.	ENSG00000066405	ENST00000343735;ENST00000183605;ENST00000536138	D;D	0.90133	-2.62;-2.62	5.49	-1.62	0.08372	.	0.621880	0.16273	N	0.221713	D	0.85191	0.5640	L	0.45581	1.43	0.09310	N	0.999993	B;B	0.28900	0.144;0.227	B;B	0.33196	0.159;0.134	T	0.76019	-0.3112	10	0.51188	T	0.08	.	8.0595	0.30625	0.3852:0.1279:0.4869:0.0	.	127;127	P56856;P56856-2	CLD18_HUMAN;.	F	127;127;116	ENSP00000340939:V127F;ENSP00000183605:V127F	ENSP00000183605:V127F	V	+	1	0	CLDN18	139225348	0.008000	0.16893	0.780000	0.31762	0.590000	0.36582	-0.079000	0.11357	-0.147000	0.11254	-1.223000	0.01593	GTC			0.488	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000357199.2		NM_001002026		T	137742658	G	T	137742658	3	4	74	1	0	0	0	0	1	0	0	0	3481	1377	48	3	609	3	CLDN18	3	137742658	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	59036299	137742658	60279772	21	5283											
KIAA1109	84162	mdanderson.org	37	chr4	123283210	123283210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttggactggaagaaaGattgatccagtaggtgttga	12	13	12	4	0	1	4	0	2	1	2	2	6	2	6	1	3	0	2	1	3	3	5			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr4:123283210G>T	ENST00000264501.4	+	86	15199	c.14826G>T	c.(14824-14826)aaG>aaT	p.K4942N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K4942N			Q2LD37	K1109_HUMAN	KIAA1109	4942					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						CTGGAAGAAAGATTGATCCAG	0.343																																					p.K4942N													.	.			0			c.G14826T												97	96	96					4																	123283210		1813	4074	5887	SO:0001583	missense	84162	exon84			AAGAAAGATTGAT	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.14826G>T	4.37:g.123283210G>T	ENSP00000264501:p.Lys4942Asn		36	0	0		31	0.1	3	NM_015312	95	0	0	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.76|12.76	2.035270|2.035270	0.35893|0.35893	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.47177|.	0.85;0.85;0.85|.	5.21|5.21	3.13|3.13	0.36017|0.36017	Fragile site-associated protein, C-terminal (1);|.	0.047126|.	0.85682|.	D|.	0.000000|.	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.85130|.	0.991;0.997|.	T|T	0.26573|0.26573	-1.0099|-1.0099	10|5	0.54805|.	T|.	0.06|.	.|.	6.2224|6.2224	0.20689|0.20689	0.3991:0.0:0.6009:0.0|0.3991:0.0:0.6009:0.0	.|.	4941;4942|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	N|I	4942;4942;1611;543|1318	ENSP00000264501:K4942N;ENSP00000373390:K4942N;ENSP00000410874:K1611N|.	ENSP00000264501:K4942N|.	K|R	+|+	3|2	2|0	KIAA1109|KIAA1109	123502660|123502660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.938000|1.938000	0.40203|0.40203	1.207000|1.207000	0.43291|0.43291	0.655000|0.655000	0.94253|0.94253	AAG|AGA			0.343	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316415.1		NM_020797		T	123283210	G	T	123283210	3	4	74	1	0	0	0	0	1	0	0	0	8223	933	33	3	15160	3	KIAA1109	4	123283210	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		123283210	67871066	22	5284											
LRBA	987	bcgsc.ca	37	chr4	151236743	151236743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgatttccactggcagctGgtatggctggtcttgtacag	7	13	12	9	1	1	0	0	0	1	0	3	1	2	0	1	4	2	5	1	4	2	4			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr4:151236743G>T	ENST00000357115.3	-	52	7939	c.7696C>A	c.(7696-7698)Cag>Aag	p.Q2566K	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Missense_Mutation_p.Q2555K|LRBA_ENST00000507224.1_Missense_Mutation_p.Q2555K|LRBA_ENST00000510413.1_Missense_Mutation_p.Q2555K	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2566						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACTGGCAGCTGGTATGGCTGG	0.388																																					p.Q2566K													.	LRBA	253		0			c.C7696A												109	99	103					4																	151236743		2203	4300	6503	SO:0001583	missense	987	exon52			GCAGCTGGTATGG	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7696C>A	4.37:g.151236743G>T	ENSP00000349629:p.Gln2566Lys		36	0	0		51	0.08	4	NM_006726	35	0	0	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340038	0.24339	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.71579	-0.58;-0.58;-0.58;0.5	5.6	5.6	0.85130	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	N	0.24115	0.695	0.80722	D	1	P;B;B;P	0.49447	0.924;0.176;0.031;0.552	P;B;B;B	0.47044	0.535;0.176;0.159;0.194	T	0.58662	-0.7597	10	0.07482	T	0.82	.	19.6104	0.95604	0.0:0.0:1.0:0.0	.	2566;2555;2555;461	P50851;F5H1X8;P50851-2;Q68D03	LRBA_HUMAN;.;.;.	K	2555;2555;2566;2555	ENSP00000446299:Q2555K;ENSP00000421552:Q2555K;ENSP00000349629:Q2566K;ENSP00000422180:Q2555K	ENSP00000349629:Q2566K	Q	-	1	0	LRBA	151456193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.636000	0.89361	0.557000	0.71058	CAG			0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000364939.1				T	151236743	G	T	151236743	3	4	74	1	0	0	0	0	1	0	0	0	8947	1357	47	3	923	3	LRBA	4	151236743	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	27953533	151236743	39917533	23	5285											
PCDHB10	56126	mdanderson.org	37	chr5	140573922	140573922	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggcgactcgggccagaaCgcctggctgtcgtaccagct	7	6	14	14	5	0	1	0	0	0	1	2	3	0	1	3	3	3	3	3	3	2	1	rs376773467		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr5:140573922C>T	ENST00000239446.4	+	1	1981	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	599	Cadherin 6. {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)			CGGGCCAGAACGCCTGGCTGT	0.721																																					p.N599N													.	.			0			c.C1797T												4	6	5					5																	140573922		1101	2431	3532	SO:0001819	synonymous_variant	56126	exon1			CCAGAACGCCTGG	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.1797C>T	5.37:g.140573922C>T			10	0	0		11	0.18	2	NM_018930	0		0	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																					0.721	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251821.1		NM_018930		T	140573922	C	T	140573922	2	4	74	1	0	0	0	0	0	0	0	1	11552	535	19	1		1	PCDHB10	5	140573922	Silent	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10		140573922	40341338	24	5286											
DBN1	1627	hgsc.bcm.edu	37	chr5	176884449	176884449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgctaatcaccaccctcGaagccctcctcctcttctgg	7	9	5	20	2	3	0	1	0	2	0	6	1	5	0	6	1	1	1	6	1	2	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr5:176884449G>T	ENST00000309007.5	-	14	2154	c.1935C>A	c.(1933-1935)ttC>ttA	p.F645L	DBN1_ENST00000393563.4_Missense_Mutation_p.F377L|DBN1_ENST00000292385.5_Missense_Mutation_p.F647L|DBN1_ENST00000393565.1_Missense_Mutation_p.F691L|DBN1_ENST00000512501.1_3'UTR	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	645					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)			CACCACCCTCGAAGCCCTCCT	0.627											OREG0016462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F647L													.	.			0			c.C1941A												137	121	126					5																	176884449		2203	4300	6503	SO:0001583	missense	1627	exon15			ACCCTCGAAGCCC		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.1935C>A	5.37:g.176884449G>T	ENSP00000308532:p.Phe645Leu		80	0	0	1934	84	0.05	4	NM_080881	411	0	2	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330177	0.41297	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000393563	T;T;T;T	0.35236	1.34;1.32;1.34;1.4	4.75	1.76	0.24704	.	0.408692	0.22332	N	0.061444	T	0.19765	0.0475	N	0.19112	0.55	0.26130	N	0.980422	P;B;P	0.42785	0.79;0.433;0.568	B;B;B	0.40009	0.316;0.07;0.147	T	0.11251	-1.0595	10	0.87932	D	0	-16.6398	3.5144	0.07719	0.3778:0.1927:0.4295:0.0	.	595;645;647	B3KSQ7;Q16643;Q16643-2	.;DREB_HUMAN;.	L	645;647;691;377	ENSP00000308532:F645L;ENSP00000292385:F647L;ENSP00000377195:F691L;ENSP00000377193:F377L	ENSP00000292385:F647L	F	-	3	2	DBN1	176817055	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	0.701000	0.25616	0.616000	0.30141	-0.291000	0.09656	TTC			0.627	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000253429.2		NM_080881		T	176884449	G	T	176884449	3	4	74	1	0	0	0	0	1	0	0	0	4254	1049	37	1	18	1	DBN1	5	176884449	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	36310527	176884449	4030811	25	5287											
GRM4	2914	mdanderson.org	37	chr6	34026771	34026771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgtacggacatcctcttgGggaggatcgtgacagcaccc	8	8	12	13	3	1	1	0	1	1	0	4	4	2	4	2	4	2	2	2	4	1	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr6:34026771G>T	ENST00000538487.2	-	5	1450	c.1007C>A	c.(1006-1008)cCc>cAc	p.P336H	GRM4_ENST00000374177.3_Missense_Mutation_p.P267H|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.P196H|GRM4_ENST00000609222.1_Missense_Mutation_p.P203H|GRM4_ENST00000544773.2_Missense_Mutation_p.P167H|GRM4_ENST00000535756.1_Missense_Mutation_p.P203H|GRM4_ENST00000374181.4_Missense_Mutation_p.P336H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	336					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						CATCCTCTTGGGGAGGATCGT	0.622																																					p.P336H													GRM4_ENST00000374181,NS,malignant_melanoma,-1,6	GRM4_ENST00000374181	-1	6	0			c.C1007A												100	59	73					6																	34026771		2203	4300	6503	SO:0001583	missense	2914	exon5			CTCTTGGGGAGGA	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.1007C>A	6.37:g.34026771G>T	ENSP00000440556:p.Pro336His		20	0	0		36	0.08	3	NM_001256811	1	0	0	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811350	0.50527	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	3.34	3.34	0.38264	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.88455	0.6441	M	0.84948	2.725	0.80722	D	1	P;D;D;D;D	0.89917	0.939;0.967;1.0;1.0;0.994	P;P;D;D;D	0.97110	0.71;0.87;1.0;0.989;0.968	D	0.86986	0.2107	10	0.20519	T	0.43	.	15.1984	0.73116	0.0:0.0:1.0:0.0	.	336;167;196;336;203	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	H	336;267;28;203;167;336;196	ENSP00000363296:P336H;ENSP00000363292:P267H;ENSP00000445533:P28H;ENSP00000437925:P203H;ENSP00000437730:P167H;ENSP00000440556:P336H;ENSP00000398456:P196H	ENSP00000363292:P267H	P	-	2	0	GRM4	34134749	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	9.599000	0.98280	1.877000	0.54381	0.185000	0.17295	CCC			0.622	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040213.2				T	34026771	G	T	34026771	3	4	74	1	0	0	0	0	1	0	0	0	6814	1232	43	3	1759	3	GRM4	6	34026771	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		34026771	137088296	26	5288											
ETV7	51513	mdanderson.org	37	chr6	36339272	36339272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgaagttgctggtaaGccctgggtctggtggctgca	5	10	17	9	1	1	0	0	0	1	0	1	1	1	0	2	5	3	5	2	5	2	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr6:36339272G>T	ENST00000340181.4	-	5	740	c.499C>A	c.(499-501)Ctt>Att	p.L167I	ETV7_ENST00000373737.4_Intron|ETV7_ENST00000373738.1_Missense_Mutation_p.L112I|ETV7_ENST00000339796.5_Missense_Mutation_p.L167I|ETV7_ENST00000538992.1_Missense_Mutation_p.L16I	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	167					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	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 RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TTGCTGGTAAGCCCTGGGTCT	0.622																																					p.L167I													.	.			0			c.C499A												53	47	49					6																	36339272		2203	4300	6503	SO:0001583	missense	51513	exon5			TGGTAAGCCCTGG	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.499C>A	6.37:g.36339272G>T	ENSP00000341843:p.Leu167Ile		32	0	0		47	0.06	3	NM_016135	11	0	0	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103355	0.20632	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373738;ENST00000538992	T;T;T;T	0.15139	2.99;3.0;2.66;2.45	3.49	-1.42	0.08913	.	2.987830	0.01985	U	0.045116	T	0.03739	0.0106	L	0.29908	0.895	0.09310	N	1	P;B;B;B;P	0.40398	0.716;0.356;0.267;0.356;0.617	B;B;B;B;B	0.39068	0.289;0.071;0.016;0.104;0.11	T	0.19844	-1.0293	10	0.22109	T	0.4	.	4.5927	0.12315	0.3882:0.1657:0.4461:0.0	.	108;112;167;112;167	Q9Y603-2;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;ETV7_HUMAN;.;.	I	167;167;112;16	ENSP00000342260:L167I;ENSP00000341843:L167I;ENSP00000362843:L112I;ENSP00000440592:L16I	ENSP00000342260:L167I	L	-	1	0	ETV7	36447250	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.234000	0.09028	-0.148000	0.11234	-0.219000	0.12488	CTT			0.622	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040341.1		NM_016135		T	36339272	G	T	36339272	3	4	74	1	0	0	0	0	1	0	0	0	5291	971	34	2	542	2	ETV7	6	36339272	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	2312501	36339272	134775795	27	5289											
FOXP4	116113	mdanderson.org	37	chr6	41556457	41556457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatgcaggtggtgcagcaGctggagatccaggtgtggcc	8	7	17	9	0	0	2	0	0	0	2	1	3	1	2	2	5	4	4	2	5	0	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr6:41556457G>T	ENST00000307972.4	+	8	1065	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	FOXP4_ENST00000373063.3_Missense_Mutation_p.Q350H|FOXP4_ENST00000373057.3_Missense_Mutation_p.Q349H|FOXP4_ENST00000409208.1_Missense_Mutation_p.Q351H|FOXP4_ENST00000373060.1_Missense_Mutation_p.Q351H			Q8IVH2	FOXP4_HUMAN	forkhead box P4	351	Leucine-zipper.				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)			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)					TGGTGCAGCAGCTGGAGATCC	0.627																																					p.Q351H													.	.			0			c.G1053T												122	105	111					6																	41556457		2203	4300	6503	SO:0001583	missense	116113	exon9			GCAGCAGCTGGAG	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.1053G>T	6.37:g.41556457G>T	ENSP00000309823:p.Gln351His		40	0	0		46	0.09	4	NM_001012426	194	0	0	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.803016	0.50315	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	M	0.84326	2.69	0.80722	D	1	B;B;P	0.47350	0.011;0.038;0.894	B;B;P	0.47162	0.027;0.027;0.54	T	0.27468	-1.0073	10	0.66056	D	0.02	.	17.7185	0.88344	0.0:0.0:1.0:0.0	.	350;349;351	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	H	351;350;351;349;351	ENSP00000362151:Q351H;ENSP00000362154:Q350H;ENSP00000386958:Q351H;ENSP00000362148:Q349H;ENSP00000309823:Q351H	ENSP00000309823:Q351H	Q	+	3	2	FOXP4	41664435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.452000	0.60054	2.283000	0.76528	0.561000	0.74099	CAG			0.627	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000106767.1		NM_138457		T	41556457	G	T	41556457	3	4	74	1	0	0	0	0	1	0	0	0	6042	962	34	2	1083	2	FOXP4	6	41556457	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	5217185	41556457	129558610	28	5290											
ECT2L	345930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	139223666	139223666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcatttattcttcagggtCcaaaatataaatggatttgt	13	16	7	5	0	2	0	1	0	1	0	3	1	3	1	1	2	1	1	1	2	6	7			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr6:139223666C>T	ENST00000423192.1	+	21	2778	c.2617C>T	c.(2617-2619)Cca>Tca	p.P873S	ECT2L_ENST00000541398.1_Missense_Mutation_p.P727S|ECT2L_ENST00000367682.2_Missense_Mutation_p.P873S			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	873							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCAGGGTCCAAAATATAA	0.323			"N, Splice, Mis"		ETP ALL																																p.P873S				Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	.			0			c.C2617T												91	89	89					6																	139223666		1820	4080	5900	SO:0001583	missense	345930	exon21			CAGGGTCCAAAAT		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2617C>T	6.37:g.139223666C>T	ENSP00000387388:p.Pro873Ser		47	0	0		45	0.31	14	NM_001195037	0		0	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551831	0.45487	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.76709	-1.04;-1.04;-1.04	5.85	4.97	0.65823	Pleckstrin homology-type (1);	0.139599	0.25783	N	0.028329	T	0.50599	0.1625	L	0.36672	1.1	0.24455	N	0.994465	B;B	0.22909	0.077;0.046	B;B	0.23419	0.046;0.021	T	0.38090	-0.9677	10	0.28530	T	0.3	-8.0E-4	11.2525	0.49034	0.0:0.9134:0.0:0.0866	.	727;873	F5H7S9;Q008S8	.;ECT2L_HUMAN	S	873;873;727	ENSP00000387388:P873S;ENSP00000356655:P873S;ENSP00000442307:P727S	ENSP00000356655:P873S	P	+	1	0	ECT2L	139265359	0.997000	0.39634	0.992000	0.48379	0.894000	0.52154	2.266000	0.43320	1.457000	0.47850	0.655000	0.94253	CCA			0.323	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042441.3		NM_001077706		T	139223666	C	T	139223666	3	4	74	1	0	0	0	0	1	0	0	0	4907	855	30	3	2695	3	ECT2L	6	139223666	Missense_Mutation	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10	97667209	139223666	31891401	29	5291											
KIF25	3834	mdanderson.org	37	chr6	168443364	168443364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgccccgtaccggaacaGcaggctcacccacctccttc	8	6	7	20	2	1	0	1	0	0	0	3	1	2	1	7	2	4	3	7	2	2	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr6:168443364G>T	ENST00000443060.2	+	9	1344	c.953G>T	c.(952-954)aGc>aTc	p.S318I	KIF25_ENST00000354419.2_Missense_Mutation_p.S318I|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	318	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)		TACCGGAACAGCAGGCTCACC	0.642																																					p.S318I													.	.			0			c.G953T												114	109	110					6																	168443364		2203	4300	6503	SO:0001583	missense	3834	exon8			GGAACAGCAGGCT	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.953G>T	6.37:g.168443364G>T	ENSP00000388878:p.Ser318Ile		35	0	0		40	0.08	3	NM_030615	1	0	0	O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344479	0.61073	.	.	ENSG00000125337	ENST00000443060;ENST00000354419	D;D	0.86297	-2.1;-2.1	4.13	3.21	0.36854	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94822	0.7988	10	0.87932	D	0	-29.3518	11.0021	0.47611	0.0:0.1905:0.8095:0.0	.	318	Q9UIL4	KIF25_HUMAN	I	318	ENSP00000388878:S318I;ENSP00000346401:S318I	ENSP00000346401:S318I	S	+	2	0	KIF25	168186213	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	5.310000	0.65780	0.792000	0.33850	0.543000	0.68304	AGC			0.642	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362509.1				T	168443364	G	T	168443364	3	4	74	1	0	0	0	0	1	0	0	0	8308	971	34	2	979	2	KIF25	6	168443364	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	29219698	168443364	2671703	30	5292											
LAPTM4B	55353	mdanderson.org	37	chr8	98788291	98788291	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaacagctgctgcttgtgCtgccatgtccgcaccggcac	6	9	10	16	2	0	0	0	0	0	0	2	0	2	0	4	1	6	6	4	1	1	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr8:98788291C>A	ENST00000521545.2	+	1	288	c.54C>A	c.(52-54)tgC>tgA	p.C18*	LAPTM4B_ENST00000445593.2_Nonsense_Mutation_p.C109*|RNU7-177P_ENST00000517101.1_RNA			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	162					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GCTGCTTGTGCTGCCATGTCC	0.697																																					p.C109X													.	.			0			c.C327A												18	20	19					8																	98788291		2158	4244	6402	SO:0001587	stop_gained	55353	exon1			CTTGTGCTGCCAT	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.54C>A	8.37:g.98788291C>A	ENSP00000428409:p.Cys18*		20	0	0		44	0.07	3	NM_018407	170	0	0	Q3ZCV5|Q7L909|Q86VH8|Q9H060	Nonsense_Mutation	SNP	ENST00000521545.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.423764|11.423764	0.99559|0.99559	.|.	.|.	ENSG00000104341|ENSG00000104341	ENST00000517924|ENST00000445593;ENST00000378722;ENST00000521545	.|.	.|.	.|.	4.29|4.29	2.43|2.43	0.29744|0.29744	.|.	.|0.056594	.|0.64402	.|D	.|0.000001	T|.	0.21761|.	0.0524|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34054|.	-0.9844|.	3|.	.|0.02654	.|T	.|1	-15.4307|-15.4307	8.9933|8.9933	0.36037|0.36037	0.0:0.8173:0.0:0.1827|0.0:0.8173:0.0:0.1827	.|.	.|.	.|.	.|.	D|X	72|109;155;18	.|.	.|ENSP00000367995:C155X	A|C	+|+	2|3	0|2	LAPTM4B|LAPTM4B	98857467|98857467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.819000|0.819000	0.46315|0.46315	0.972000|0.972000	0.29409|0.29409	1.015000|1.015000	0.39444|0.39444	0.643000|0.643000	0.83706|0.83706	GCT|TGC			0.697	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000380016.2				A	98788291	C	A	98788291	4	1	74	1	0	0	0	0	0	1	0	0	8640	805	28	2	329	2	LAPTM4B	8	98788291	Nonsense_Mutation	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10		98788291	47575731	31	5293											
BAI1	575	mdanderson.org	37	chr8	143614695	143614695	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggtgctgccgctgctGgcgctgacctggatgtcggc	2	10	17	12	4	0	1	0	1	0	0	1	2	0	2	2	4	4	4	2	4	0	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr8:143614695G>T	ENST00000517894.1	+	25	4332	c.3438G>T	c.(3436-3438)ctG>ctT	p.L1146L	BAI1_ENST00000323289.5_Silent_p.L1146L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1146					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)					TGCCGCTGCTGGCGCTGACCT	0.706																																					p.L1146L													.	.			0			c.G3438T												16	22	20					8																	143614695		2199	4287	6486	SO:0001819	synonymous_variant	575	exon24			GCTGCTGGCGCTG	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.3438G>T	8.37:g.143614695G>T			22	0	0		37	0.08	3	NM_001702	8	0	0		Silent	SNP	ENST00000517894.1	37																																																																																						0.706	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000379963.3		NM_001702		T	143614695	G	T	143614695	2	4	74	1	0	0	0	0	0	0	0	1	1298	1335	47	3		3	BAI1	8	143614695	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	44826404	143614695	2749327	32	5294											
JAK2	3717	mdanderson.org	37	chr9	5064922	5064922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagggaagctttgtctttcGtgtcattaattgatggatat	10	17	10	4	1	2	1	1	1	1	0	3	3	2	3	0	2	1	1	0	2	4	6	rs375678155		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr9:5064922G>T	ENST00000381652.3	+	9	1590	c.1096G>T	c.(1096-1098)Gtg>Ttg	p.V366L	JAK2_ENST00000544510.1_Missense_Mutation_p.V217L|JAK2_ENST00000539801.1_Missense_Mutation_p.V366L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	366	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)	TTTGTCTTTCGTGTCATTAAT	0.343		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																												p.V366L				Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.			0			c.G1096T												102	100	101					9																	5064922		2203	4300	6503	SO:0001583	missense	3717	exon9	Familial Cancer Database		TCTTTCGTGTCAT		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.1096G>T	9.37:g.5064922G>T	ENSP00000371067:p.Val366Leu		33	0	0		40	0.08	3	NM_004972	7	0	0	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865012	0.71949	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.67171	-0.25;-0.25;-0.25	5.15	5.15	0.70609	FERM domain (1);	0.059270	0.64402	D	0.000002	T	0.69133	0.3077	M	0.81942	2.565	0.58432	D	0.999999	P	0.36483	0.555	B	0.31614	0.133	T	0.75836	-0.3177	10	0.87932	D	0	-10.4265	18.6185	0.91313	0.0:0.0:1.0:0.0	.	366	O60674	JAK2_HUMAN	L	366;366;217	ENSP00000440387:V366L;ENSP00000371067:V366L;ENSP00000443103:V217L	ENSP00000371067:V366L	V	+	1	0	JAK2	5054922	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.459000	0.97638	2.412000	0.81896	0.313000	0.20887	GTG			0.343	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051609.1				T	5064922	G	T	5064922	3	4	74	1	0	0	0	0	1	0	0	0	7953	1145	40	1	1122	1	JAK2	9	5064922	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		5064922	136148509	33	5295											
ACO1	48	mdanderson.org	37	chr9	32431768	32431768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatatctggccgactaGagacgagatccaggcagtgg	13	6	14	8	2	1	3	0	0	1	3	2	7	2	3	2	3	0	1	2	3	3	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr9:32431768G>T	ENST00000309951.6	+	15	1916	c.1778G>T	c.(1777-1779)aGa>aTa	p.R593I	ACO1_ENST00000541043.1_Missense_Mutation_p.R494I|ACO1_ENST00000379923.1_Missense_Mutation_p.R593I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	593					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGGCCGACTAGAGACGAGATC	0.448											OREG0019130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R593I													.	.			0			c.G1778T												117	108	111					9																	32431768		2203	4300	6503	SO:0001583	missense	48	exon15			CGACTAGAGACGA	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1778G>T	9.37:g.32431768G>T	ENSP00000309477:p.Arg593Ile		57	0	0	832	49	0.06	3	NM_002197	34	0	0	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573349	0.86542	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.17854	2.25;2.25;2.25	5.49	5.49	0.81192	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.73962	2.25	0.80722	D	1	D;B	0.89917	1.0;0.049	D;B	0.72338	0.977;0.022	T	0.20739	-1.0266	10	0.51188	T	0.08	-17.2239	18.505	0.90894	0.0:0.0:1.0:0.0	.	629;593	Q59FI0;P21399	.;ACOC_HUMAN	I	629;593;593;494	ENSP00000309477:R593I;ENSP00000369255:R593I;ENSP00000438733:R494I	ENSP00000309477:R593I	R	+	2	0	ACO1	32421768	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	9.813000	0.99286	2.746000	0.94184	0.655000	0.94253	AGA			0.448	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051998.3		NM_002197		T	32431768	G	T	32431768	3	4	74	1	0	0	0	0	1	0	0	0	146	942	33	3	1832	3	ACO1	9	32431768	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	27366846	32431768	108781663	34	5296											
LAMC3	10319	mdanderson.org	37	chr9	133936554	133936554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggccagtcggcctgtaCgaccatcccagagagccggg	7	5	13	16	3	0	1	0	0	0	1	2	3	1	1	6	3	2	1	6	3	1	1	rs138199679		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr9:133936554C>T	ENST00000361069.4	+	13	2424	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	764	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)		TCGGCCTGTACGACCATCCCA	0.667																																					p.T764M													.	.			0			c.C2291T							C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	48	44	45		2291	1.9	0.1	9	dbSNP_134	45	0,8598		0,0,4299	no	missense	LAMC3	NM_006059.3	81	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	764/1576	133936554	1,13003	2203	4299	6502	SO:0001583	missense	10319	exon13			CCTGTACGACCAT	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.2291C>T	9.37:g.133936554C>T	ENSP00000354360:p.Thr764Met		25	0	0		20	0.1	2	NM_006059	68	0	0	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624973	0.28889	2.27E-4	0.0	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.63417	-0.04	4.79	1.92	0.25849	EGF-like, laminin (3);	0.301676	0.36444	N	0.002584	T	0.44746	0.1308	L	0.27053	0.805	0.24112	N	0.995835	B	0.26483	0.15	B	0.26202	0.067	T	0.30679	-0.9970	10	0.36615	T	0.2	.	8.8357	0.35111	0.0:0.7456:0.0:0.2544	.	764	Q9Y6N6	LAMC3_HUMAN	M	764	ENSP00000354360:T764M	ENSP00000347156:T764M	T	+	2	0	LAMC3	132926375	0.003000	0.15002	0.139000	0.22197	0.500000	0.33767	0.868000	0.27982	0.452000	0.26830	0.557000	0.71058	ACG	0		0.667	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054717.3		NM_006059		T	133936554	C	T	133936554	3	4	74	1	0	0	0	0	1	0	0	0	8631	536	19	1	2341	1	LAMC3	9	133936554	Missense_Mutation	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10	101504786	133936554	7276877	35	5297											
UNC5B	219699	mdanderson.org	37	chr10	73051501	73051501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggttcccagcagctcttggGcctgccccgagacccaggga	6	6	13	16	2	1	1	0	0	1	1	2	3	2	2	5	3	3	3	5	3	0	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr10:73051501G>T	ENST00000335350.6	+	10	2023	c.1607G>T	c.(1606-1608)gGc>gTc	p.G536V	UNC5B_ENST00000373192.4_Missense_Mutation_p.G525V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	536					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						CAGCTCTTGGGCCTGCCCCGA	0.692																																					p.G536V													.	.			0			c.G1607T												30	31	31					10																	73051501		2203	4299	6502	SO:0001583	missense	219699	exon10			TCTTGGGCCTGCC	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.1607G>T	10.37:g.73051501G>T	ENSP00000334329:p.Gly536Val		33	0	0		21	0.14	3	NM_170744	48	0	0	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	g	13.01	2.110729	0.37242	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48836	0.86;0.8	4.24	4.24	0.50183	.	0.318030	0.31797	N	0.007048	T	0.41305	0.1153	L	0.40543	1.245	0.53005	D	0.999964	P;P	0.44521	0.837;0.749	B;B	0.42593	0.392;0.219	T	0.39272	-0.9622	10	0.49607	T	0.09	-33.6702	12.5389	0.56158	0.0:0.3108:0.6892:0.0	.	525;536	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	536;525	ENSP00000334329:G536V;ENSP00000362288:G525V	ENSP00000334329:G536V	G	+	2	0	UNC5B	72721507	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	3.506000	0.53364	2.081000	0.62600	0.556000	0.70494	GGC			0.692	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048541.1		NM_170744		T	73051501	G	T	73051501	3	4	74	1	0	0	0	0	1	0	0	0	17016	1203	42	2	1645	2	UNC5B	10	73051501	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		73051501	62483246	36	5298											
SORBS1	10580	mdanderson.org	37	chr10	97082525	97082525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagctcttttcagattctGtgagatctggtcctgctctc	6	16	8	11	0	5	2	1	1	4	2	7	3	6	2	1	1	2	2	1	1	1	4			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr10:97082525G>T	ENST00000371245.3	-	25	2482	c.2456C>A	c.(2455-2457)aCa>aAa	p.T819K	SORBS1_ENST00000371247.2_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.T819K|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1180K|SORBS1_ENST00000361941.3_Intron	NM_001034956.1	NP_001030128			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTCAGATTCTGTGAGATCTGG	0.383																																					p.T819K													.	.			0			c.C2456A												123	110	115					10																	97082525		2203	4300	6503	SO:0001583	missense	10580	exon25			GATTCTGTGAGAT	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000371245.3:c.2456C>A	10.37:g.97082525G>T	ENSP00000360291:p.Thr819Lys		46	0	0		35	0.09	3	NM_001034956	0		0		Missense_Mutation	SNP	ENST00000371245.3	37	CCDS31256.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168013	0.57476	.	.	ENSG00000095637	ENST00000371245;ENST00000371227;ENST00000353505	T;T;T	0.07908	3.5;3.15;3.5	5.37	5.37	0.77165	.	.	.	.	.	T	0.11922	0.0290	N	0.08118	0	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.567	D;D;B	0.83275	0.996;0.994;0.213	T	0.17992	-1.0351	9	0.05721	T	0.95	.	19.0994	0.93268	0.0:0.0:1.0:0.0	.	1180;819;462	Q9BX66-11;Q9BX66-3;Q6MZY5	.;.;.	K	819;1180;819	ENSP00000360291:T819K;ENSP00000360271:T1180K;ENSP00000343998:T819K	ENSP00000343998:T819K	T	-	2	0	SORBS1	97072515	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.124000	0.77185	2.512000	0.84698	0.655000	0.94253	ACA			0.383	SORBS1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000049519.1				T	97082525	G	T	97082525	3	4	74	1	0	0	0	0	1	0	0	0	14950	1377	48	3	277	3	SORBS1	10	97082525	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	24031024	97082525	38452222	37	5299											
MRPL43	57715	mdanderson.org	37	chr10	102743827	102743827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgccgaggaactcagccGcatcctggaaaaaaggaagc	13	5	11	12	3	1	0	1	0	0	0	3	4	2	3	3	3	3	1	3	3	5	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr10:102743827G>A	ENST00000370250.4	+	14	2829	c.2456G>A	c.(2455-2457)cGc>cAc	p.R819H	SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.R824H|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000342071.1_Missense_Mutation_p.A157V|MRPL43_ENST00000370242.4_Missense_Mutation_p.A157V	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	819					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GAACTCAGCCGCATCCTGGAA	0.572																																					p.R824H													.	.			0			c.G2471A												75	76	76					10																	102743827		2203	4300	6503	SO:0001583	missense	57715	exon14			TCAGCCGCATCCT	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2456G>A	10.37:g.102743827G>A	ENSP00000359270:p.Arg819His		52	0	0		39	0.08	3	NM_017893	44	0	0	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	19.31|19.31|19.31	3.803175|3.803175|3.803175	0.70682|0.70682|0.70682	.|.|.	.|.|.	ENSG00000055950|ENSG00000095539|ENSG00000055950	ENST00000370242;ENST00000342071|ENST00000370250;ENST00000210633|ENST00000448244	.|T;T|.	.|0.23147|.	.|1.92;1.96|.	5.54|5.54|5.54	4.63|4.63|4.63	0.57726|0.57726|0.57726	.|.|.	.|0.219434|0.219434	.|0.32868|0.32868	.|U|U	.|0.005550|0.005550	T|T|T	0.42765|0.42765|0.42765	0.1217|0.1217|0.1217	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.45676|0.45676|0.45676	D|D|D	0.998592|0.998592|0.998592	P;P|D|.	0.35226|0.89917|.	0.491;0.491|1.0|.	B;B|D|.	0.25405|0.70716|.	0.06;0.06|0.97|.	T|T|T	0.26018|0.26018|0.26018	-1.0115|-1.0115|-1.0115	8|10|6	0.72032|0.72032|.	D|D|.	0.01|0.01|.	-6.9246|-6.9246|-6.9246	6.0|6.0|6.0	0.19515|0.19515|0.19515	0.2415:0.0:0.7585:0.0|0.2415:0.0:0.7585:0.0|0.2415:0.0:0.7585:0.0	.|.|.	157;157|824|.	B1AL06;C9J5Q3|Q9NTN9-2|.	.;.|.|.	V|H|W	157|819;824|154	.|ENSP00000359270:R819H;ENSP00000210633:R824H|.	ENSP00000339844:A157V|ENSP00000210633:R824H|.	A|R|R	-|+|-	2|2|1	0|0|2	MRPL43|SEMA4G|MRPL43	102733817|102733817|102733817	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	5.711000|5.711000|5.711000	0.68400|0.68400|0.68400	2.616000|2.616000|2.616000	0.88540|0.88540|0.88540	0.550000|0.550000|0.550000	0.68814|0.68814|0.68814	GCG|CGC|CGG			0.572	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000049920.2				A	102743827	G	A	102743827	3	1	74	1	0	0	0	0	1	0	0	0	9823	1087	38	1	401	1	MRPL43	10	102743827	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	5661302	102743827	32790920	38	5300											
TDRD1	56165	mdanderson.org	37	chr10	115971626	115971626	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtctctccctttttcagaGgatgatcagtggtaccgtgc	7	13	11	10	1	3	2	2	1	1	1	5	4	4	3	2	2	2	1	2	2	1	3			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr10:115971626G>T	ENST00000369280.1	+	14	2122	c.1662G>T	c.(1660-1662)gaG>gaT	p.E554D	TDRD1_ENST00000251864.2_Splice_Site_p.E554D|TDRD1_ENST00000369282.1_Splice_Site_p.E554D|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000422662.1_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	554	Tudor 2. {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)		CTTTTTCAGAGGATGATCAGT	0.363																																					p.E554D													.	.			0			c.G1662T												167	160	162					10																	115971626		2203	4300	6503	SO:0001630	splice_region_variant	56165	exon14			TTCAGAGGATGAT	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.1661-1G>T	10.37:g.115971626G>T			71	0	0		51	0.06	3	NM_198795	0		0	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.099542	0.76983	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369280	T;T;T	0.10668	2.85;2.85;2.85	5.8	5.8	0.92144	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.054746	0.64402	D	0.000001	T	0.27313	0.0670	M	0.65975	2.015	0.80722	D	1	P;D	0.89917	0.95;1.0	D;D	0.83275	0.941;0.996	T	0.00722	-1.1594	10	0.33940	T	0.23	.	9.0103	0.36137	0.1234:0.0:0.8766:0.0	.	554;554	Q9BXT4;Q9BXT4-3	TDRD1_HUMAN;.	D	554	ENSP00000358288:E554D;ENSP00000251864:E554D;ENSP00000358286:E554D	ENSP00000251864:E554D	E	+	3	2	TDRD1	115961616	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.755000	0.47540	2.730000	0.93505	0.563000	0.77884	GAG			0.363	TDRD1-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000050457.2			Missense_Mutation	T	115971626	G	T	115971626	5	4	74	1	0	0	0	0	0	0	1	0	15753	1014	35	3	1712	3	TDRD1	10	115971626	Splice_Site	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	13227799	115971626	19563121	39	5301											
MUC2	4583	mdanderson.org	37	chr11	1093185	1093185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaaccccaacacccacCggcacacagtccccaacccc	13	1	3	24	1	0	0	0	0	0	0	1	0	1	0	9	1	3	1	9	1	3	0	rs111164661		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr11:1093185C>T	ENST00000441003.2	+	30	5031	c.5004C>T	c.(5002-5004)acC>acT	p.T1668T	MUC2_ENST00000359061.5_Silent_p.T1635T|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	caacacccaccggcacacagt	0.627																																					p.T1668T													.	.			0			c.C5004T																																									SO:0001819	synonymous_variant	4583	exon30			ACCCACCGGCACA	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.5004C>T	11.37:g.1093185C>T			19	0	0		13	0.15	2	NM_002457	6	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1093185	C	T	1093185	2	4	74	1	0	0	0	0	0	0	0	1	9991	639	23	1		1	MUC2	11	1093185	Silent	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10		1093185	133913331	40	5302											
ZNF143	7702	hgsc.bcm.edu	37	chr11	9519221	9519221	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttaattttttcttaaaGgttatggattaaaaagtcac	13	19	5	4	0	3	0	1	0	2	0	3	1	3	1	0	2	0	1	0	2	7	8			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr11:9519221G>T	ENST00000396602.2	+	10	960		c.e10-1		ZNF143_ENST00000299606.2_Splice_Site|ZNF143_ENST00000396604.1_Splice_Site|ZNF143_ENST00000530463.1_Splice_Site|ZNF143_ENST00000396597.3_Splice_Site	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143						gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TTTTCTTAAAGGTTATGGATT	0.303																																					.													.	.			0			c.842-1G>T												38	41	40					11																	9519221		2201	4293	6494	SO:0001630	splice_region_variant	7702	exon10			CTTAAAGGTTATG	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.842-1G>T	11.37:g.9519221G>T			95	0	0		107	0.05	5	NM_003442	1	0	0	A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Splice_Site	SNP	ENST00000396602.2	37	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667632	0.88348	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0081	0.92861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF143	9475797	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.821000	0.99360	2.492000	0.84095	0.650000	0.86243	.			0.303	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313921.2		NM_003442	Intron	T	9519221	G	T	9519221	5	4	74	1	0	0	0	0	0	0	1	0	17755	1014	35	3	875	3	ZNF143	11	9519221	Splice_Site	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	8426036	9519221	125487295	41	5303											
EIF4G2	1982	broad.mit.edu	37	chr11	10820574	10820574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttttcccggaaactcttGggttatatcttctttccaag	7	16	7	11	1	3	0	0	0	3	0	5	1	5	1	3	2	1	1	3	2	4	7			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr11:10820574G>T	ENST00000526148.1	-	21	3133	c.2623C>A	c.(2623-2625)Caa>Aaa	p.Q875K	EIF4G2_ENST00000339995.5_Missense_Mutation_p.Q875K|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.Q837K|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.Q875K	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)		GGAAACTCTTGGGTTATATCT	0.348																																					p.Q875K													.	EIF4G2	89		0			c.C2623A												94	105	101					11																	10820574		2201	4294	6495	SO:0001583	missense	1982	exon21			ACTCTTGGGTTAT	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.2623C>A	11.37:g.10820574G>T	ENSP00000433664:p.Gln875Lys		222	0.0045045045	1		247	0.02	5	NM_001172705	2448	0	0		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924921	0.73213	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	6.07	6.07	0.98685	eIF4-gamma/eIF5/eIF2-epsilon (3);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	N	0.05177	-0.1	0.45621	D	0.998555	P;P	0.42993	0.797;0.797	B;B	0.39876	0.312;0.312	T	0.71751	-0.4498	9	0.38643	T	0.18	-7.2128	20.6593	0.99626	0.0:0.0:1.0:0.0	.	875;948	P78344;B4DZF2	IF4G2_HUMAN;.	K	875;875;875;837;948;223	ENSP00000433664:Q875K;ENSP00000433371:Q875K;ENSP00000340281:Q875K;ENSP00000379778:Q837K;ENSP00000434815:Q223K	ENSP00000340281:Q875K	Q	-	1	0	EIF4G2	10777150	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.576000	0.74023	2.885000	0.99019	0.655000	0.94253	CAA			0.348	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000386603.1		NM_001418		T	10820574	G	T	10820574	3	4	74	1	0	0	0	0	1	0	0	0	5044	1357	47	3	108	3	EIF4G2	11	10820574	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	1301353	10820574	124185942	42	5304											
OR4A16	81327	hgsc.bcm.edu	37	chr11	55110715	55110715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacagaatttgtcctcctGggcctcactcaagatcctga	9	12	8	12	0	2	3	2	1	0	2	5	3	5	3	4	1	1	1	4	1	3	2	rs77981146	byFrequency	TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr11:55110715G>A	ENST00000314721.2	+	1	89	c.39G>A	c.(37-39)ctG>ctA	p.L13L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13L(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCCTCCTGGGCCTCACTC	0.388																																					p.L13L													OR4A16,NS,lymphoid_neoplasm,0,1	OR4A16	0	1	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	c.G39A												57	51	53					11																	55110715		2201	4296	6497	SO:0001819	synonymous_variant	81327	exon1			CCTCCTGGGCCTC	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.39G>A	11.37:g.55110715G>A			28	0.0357142857	1		22	0.14	3	NM_001005274	0		0	Q6IFL3	Silent	SNP	ENST00000314721.2	37	CCDS31499.1																																																																																			0.006		0.388	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391160.1		NM_001005274		A	55110715	G	A	55110715	2	1	74	1	0	0	0	0	0	0	0	1	11058	1335	47	3		3	OR4A16	11	55110715	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	44290141	55110715	79895801	43	5305											
GPR44	11251	mdanderson.org	37	chr11	60621184	60621184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagtggcttcagtgtggcGttggccgacatcgtggggct	5	10	17	9	3	1	1	1	0	0	1	2	2	1	1	1	5	0	3	1	5	0	2	rs145585912		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr11:60621184G>A	ENST00000332539.4	-	2	123	c.12C>T	c.(10-12)aaC>aaT	p.N4N	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	4					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TCAGTGTGGCGTTGGCCGACA	0.647																																					p.N4N													.	.			0			c.C12T							G		0,4364		0,0,2182	39	30	33		12	2	0.6	11	dbSNP_134	33	2,8500		0,2,4249	no	coding-synonymous	GPR44	NM_004778.2		0,2,6431	AA,AG,GG		0.0235,0.0,0.0155		4/396	60621184	2,12864	2182	4251	6433	SO:0001819	synonymous_variant	11251	exon2			TGTGGCGTTGGCC	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.12C>T	11.37:g.60621184G>A			13	0	0		21	0.1	2	NM_004778	0		0	O94765|Q4QRI6	Silent	SNP	ENST00000332539.4	37	CCDS7994.1																																																																																			0		0.647	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396328.1		NM_004778		A	60621184	G	A	60621184	2	1	74	1	0	0	0	0	0	0	0	1	6709	1136	40	1		1	GPR44	11	60621184	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	5510469	60621184	74385332	44	5306											
C11orf53	341032	mdanderson.org	37	chr11	111156435	111156435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctgaccctgtgtctGccgatgccctgctgaccttg	4	10	11	16	1	1	2	0	2	1	0	1	3	1	2	6	0	4	1	6	0	0	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr11:111156435G>T	ENST00000280325.4	+	4	514	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	123										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)		CCCTGTGTCTGCCGATGCCCT	0.617																																					p.A123S													.	.			0			c.G367T												77	68	71					11																	111156435		2201	4297	6498	SO:0001583	missense	341032	exon4			GTGTCTGCCGATG	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.367G>T	11.37:g.111156435G>T	ENSP00000280325:p.Ala123Ser		40	0	0		28	0.11	3	NM_198498	0		0		Missense_Mutation	SNP	ENST00000280325.4	37	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	4.546	0.101334	0.08731	.	.	ENSG00000150750	ENST00000280325	.	.	.	4.96	-4.62	0.03370	.	0.696787	0.14026	N	0.346459	T	0.20333	0.0489	L	0.42245	1.32	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.38112	-0.9676	9	0.05833	T	0.94	-8.2594	1.5641	0.02601	0.4715:0.1067:0.1979:0.2239	.	123	Q8IXP5	CK053_HUMAN	S	123	.	ENSP00000280325:A123S	A	+	1	0	C11orf53	110661645	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-1.004000	0.03678	-0.416000	0.07473	0.561000	0.74099	GCC			0.617	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390989.1		NM_198498		T	111156435	G	T	111156435	3	4	74	1	0	0	0	0	1	0	0	0	1650	1319	46	2	377	2	C11orf53	11	111156435	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	50535251	111156435	23850081	45	5307											
LHX5	64211	mdanderson.org	37	chr12	113907120	113907120	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgggcgagatgccttgCgcgcagccggcgcatttcgt	4	9	15	13	7	0	1	0	0	0	1	2	2	0	1	2	2	3	3	2	2	0	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr12:113907120C>A	ENST00000261731.3	-	2	777	c.204G>T	c.(202-204)gcG>gcT	p.A68A	RP11-82C23.2_ENST00000551357.2_RNA|LHX5_ENST00000557836.1_5'Flank	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	68	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						AGATGCCTTGCGCGCAGCCGG	0.612																																					p.A68A													.	.			0			c.G204T												75	69	71					12																	113907120		2203	4300	6503	SO:0001819	synonymous_variant	64211	exon2			GCCTTGCGCGCAG	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.204G>T	12.37:g.113907120C>A			25	0	0		47	0.06	3	NM_022363	0		0	Q32MA4	Silent	SNP	ENST00000261731.3	37	CCDS9171.1																																																																																					0.612	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404788.3		NM_022363		A	113907120	C	A	113907120	2	1	74	1	0	0	0	0	0	0	0	1	8789	755	27	1		1	LHX5	12	113907120	Silent	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10		113907120	19944775	46	5308											
UBAC2	337867	mdanderson.org	37	chr13	99853189	99853189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accagcaccggctccagtggGctctgtgagtaccggcctcc	6	7	12	16	2	1	1	0	1	1	0	3	1	3	1	6	3	2	4	6	3	1	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr13:99853189G>T	ENST00000403766.3	+	1	162	c.27G>T	c.(25-27)ggG>ggT	p.G9G	UBAC2_ENST00000376440.2_5'UTR|UBAC2-AS1_ENST00000426037.2_lincRNA	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	9					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTCCAGTGGGCTCTGTGAGT	0.716																																					p.G9G													.	.			0			c.G27T												8	10	10					13																	99853189		1554	3564	5118	SO:0001819	synonymous_variant	337867	exon1			CAGTGGGCTCTGT	AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"phosphoglycerate dehydrogenase like 1"	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.27G>T	13.37:g.99853189G>T			36	0	0		39	0.08	3	NM_001144072	77	0	0	B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Silent	SNP	ENST00000403766.3	37	CCDS45064.1																																																																																					0.716	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045588.1		NM_177967		T	99853189	G	T	99853189	2	4	74	1	0	0	0	0	0	0	0	1	16859	1190	42	2		2	UBAC2	13	99853189	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		99853189	15316689	47	5309											
MYH6	4624	mdanderson.org	37	chr14	23853812	23853812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgagggcgatctgctcggCctcgtccagccggtgctgca	4	9	14	14	4	1	1	0	1	1	0	4	2	2	1	3	3	4	3	3	3	0	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr14:23853812C>T	ENST00000356287.3	-	35	5433	c.5404G>A	c.(5404-5406)Gcc>Acc	p.A1802T	MYH6_ENST00000405093.3_Missense_Mutation_p.A1802T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1802					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)		ATCTGCTCGGCCTCGTCCAGC	0.627																																					p.A1802T													.	.			0			c.G5404A												71	71	71					14																	23853812		2203	4300	6503	SO:0001583	missense	4624	exon36			GCTCGGCCTCGTC	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.5404G>A	14.37:g.23853812C>T	ENSP00000348634:p.Ala1802Thr		57	0	0		47	0.06	3	NM_002471	4	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	32	5.170812	0.94807	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80909	-1.43;-1.43	4.82	4.82	0.62117	Myosin tail (1);	.	.	.	.	D	0.92205	0.7528	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94045	0.7313	9	0.72032	D	0.01	.	18.2942	0.90139	0.0:1.0:0.0:0.0	.	1802	P13533	MYH6_HUMAN	T	1802	ENSP00000386041:A1802T;ENSP00000348634:A1802T	ENSP00000348634:A1802T	A	-	1	0	MYH6	22923652	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	7.785000	0.85724	2.395000	0.81488	0.561000	0.74099	GCC			0.627	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071796.3				T	23853812	C	T	23853812	3	4	74	1	0	0	0	0	1	0	0	0	10054	739	26	2	431	2	MYH6	14	23853812	Missense_Mutation	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10		23853812	83495728	48	5310											
TRAF3	7187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	103355943	103355943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgcccccagcacctgtaGttttaagcgctatggctgcg	8	10	10	13	2	0	0	0	0	0	0	0	0	0	0	3	1	4	5	3	1	4	4			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr14:103355943G>A	ENST00000560371.1	+	7	915	c.698G>A	c.(697-699)aGt>aAt	p.S233N	TRAF3_ENST00000392745.2_Missense_Mutation_p.S233N|TRAF3_ENST00000351691.5_Intron|TRAF3_ENST00000539721.1_Intron|TRAF3_ENST00000347662.4_Intron	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	233				Missing (in Ref. 3; AAA68195). {ECO:0000305}.	apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGCACCTGTAGTTTTAAGCGC	0.443																																					p.S233N													.	.			0			c.G698A												248	198	215					14																	103355943		2203	4300	6503	SO:0001583	missense	7187	exon8			CCTGTAGTTTTAA	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.698G>A	14.37:g.103355943G>A	ENSP00000454207:p.Ser233Asn		72	0	0		65	0.17	11	NM_145725	16	0.44	7	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486643	0.84854	.	.	ENSG00000131323	ENST00000392745;ENST00000351691	T	0.26223	1.75	5.72	5.72	0.89469	Zinc finger, TRAF-type (1);	0.226739	0.56097	D	0.000029	T	0.42539	0.1207	L	0.55743	1.74	0.80722	D	1	D	0.55172	0.97	P	0.57425	0.82	T	0.02766	-1.1113	10	0.21540	T	0.41	-20.8515	19.88	0.96892	0.0:0.0:1.0:0.0	.	233	Q13114	TRAF3_HUMAN	N	233	ENSP00000376500:S233N	ENSP00000332468:S233N	S	+	2	0	TRAF3	102425696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.473000	0.73572	2.708000	0.92522	0.561000	0.74099	AGT			0.443	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415735.1		NM_145725		A	103355943	G	A	103355943	3	1	74	1	0	0	0	0	1	0	0	0	16463	1029	36	3	720	3	TRAF3	14	103355943	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	79502131	103355943	3993597	49	5311											
C15orf52	388115	mdanderson.org	37	chr15	40631802	40631802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccccctgctctgcctgccGacggtcctcctggatctcct	2	10	8	21	2	2	0	0	0	2	0	5	2	4	1	8	2	3	1	8	2	0	0	rs372352300		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr15:40631802G>A	ENST00000559313.1	-	3	289	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	C15orf52_ENST00000557973.1_5'UTR|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	92							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCTGCCTGCCGACGGTCCTCC	0.632																																					p.R92W													.	.			0			c.C274T							G	TRP/ARG	0,4208		0,0,2104	66	75	72		274	1.5	1	15		72	1,8443		0,1,4221	no	missense	C15orf52	NM_207380.2	101	0,1,6325	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	92/535	40631802	1,12651	2104	4222	6326	SO:0001583	missense	388115	exon3			CCTGCCGACGGTC	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.274C>T	15.37:g.40631802G>A	ENSP00000453969:p.Arg92Trp		22	0	0		47	0.06	3	NM_207380	9	0	0	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421606	0.83559	0.0	1.18E-4	ENSG00000188549	ENST00000382688	.	.	.	5.04	1.5	0.22942	.	0.262623	0.26224	N	0.025603	T	0.59088	0.2168	M	0.63428	1.95	0.26454	N	0.975567	D	0.89917	1.0	P	0.62014	0.897	T	0.54180	-0.8332	9	0.87932	D	0	-16.6651	11.2837	0.49210	0.0:0.0:0.5231:0.4769	.	92	Q6ZUT6	CO052_HUMAN	W	92	.	ENSP00000372135:R92W	R	-	1	2	C15orf52	38419094	0.999000	0.42202	0.981000	0.43875	0.993000	0.82548	1.895000	0.39778	0.461000	0.27071	0.462000	0.41574	CGG			0.632	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319567.2		NM_207380		A	40631802	G	A	40631802	3	1	74	1	0	0	0	0	1	0	0	0	1802	1057	37	1	1366	1	C15orf52	15	40631802	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		40631802	61899590	50	5312											
DLL4	54567	mdanderson.org	37	chr15	41228737	41228737	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtgggcagccgctgcGagttccccgtgggcttgccg	2	10	16	13	4	0	0	0	0	0	0	1	1	1	0	4	2	3	5	4	2	0	3	rs201981567		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr15:41228737G>T	ENST00000249749.5	+	9	1828	c.1552G>T	c.(1552-1554)Gag>Tag	p.E518*		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	518	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAGCCGCTGCGAGTTCCCCGT	0.652																																					p.E518X													.	.			0			c.G1552T												27	29	28					15																	41228737		2118	4222	6340	SO:0001587	stop_gained	54567	exon9			CGCTGCGAGTTCC	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"delta-like 4 homolog (Drosophila)"			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1552G>T	15.37:g.41228737G>T	ENSP00000249749:p.Glu518*		29	0	0		44	0.07	3	NM_019074	25	0	0	Q3KP23|Q9NQT9	Nonsense_Mutation	SNP	ENST00000249749.5	37	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	G	40	8.436196	0.98810	.	.	ENSG00000128917	ENST00000249749	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	X	518	.	ENSP00000249749:E518X	E	+	1	0	DLL4	39016029	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.827000	0.99397	2.879000	0.98667	0.650000	0.86243	GAG			0.652	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418859.1				T	41228737	G	T	41228737	4	4	74	1	0	0	0	0	0	1	0	0	4573	1059	37	1	1586	1	DLL4	15	41228737	Nonsense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	596935	41228737	61302655	51	5313											
FANCI	55215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	89824446	89824446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacccttagttcttcaaaGttgttcttctaaagtcacag	10	15	6	10	0	5	0	2	0	3	0	5	0	5	0	1	0	1	4	1	0	4	7			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr15:89824446G>A	ENST00000310775.7	+	15	1513	c.1427G>A	c.(1426-1428)aGt>aAt	p.S476N	FANCI_ENST00000300027.8_Missense_Mutation_p.S476N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	476					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GTTCTTCAAAGTTGTTCTTCT	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.S476N													.	.			0			c.G1427A												198	186	190					15																	89824446		2200	4299	6499	SO:0001583	missense	55215	exon15	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TTCAAAGTTGTTC	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1427G>A	15.37:g.89824446G>A	ENSP00000310842:p.Ser476Asn		143	0	0		184	0.27	50	NM_001113378	42	0.33	14	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	1.727	-0.495009	0.04322	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.76186	-1.0;-1.0;-1.0	5.95	1.94	0.25998	.	0.232564	0.51477	N	0.000093	T	0.51584	0.1683	N	0.20685	0.6	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.09377	0.001;0.004;0.004	T	0.20840	-1.0263	10	0.11794	T	0.64	-2.2089	6.3247	0.21237	0.4361:0.1202:0.4437:0.0	.	476;476;476	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	N	476	ENSP00000300027:S476N;ENSP00000310842:S476N;ENSP00000413249:S476N	ENSP00000300027:S476N	S	+	2	0	FANCI	87625450	1.000000	0.71417	0.619000	0.29118	0.873000	0.50193	4.131000	0.57970	0.110000	0.17919	-0.122000	0.15005	AGT			0.368	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421140.1		NM_018193		A	89824446	G	A	89824446	3	1	74	1	0	0	0	0	1	0	0	0	5682	1029	36	3	1481	3	FANCI	15	89824446	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	48595709	89824446	12706946	52	5314											
ZNF205	7755	mdanderson.org	37	chr16	3169647	3169647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgacgcaccggcgcaCgcacacgggcgagaagccct	8	3	14	16	6	0	2	0	1	0	1	0	3	0	2	3	3	1	3	3	3	1	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr16:3169647C>T	ENST00000382192.3	+	7	1191	c.986C>T	c.(985-987)aCg>aTg	p.T329M	ZNF205_ENST00000219091.4_Missense_Mutation_p.T329M|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	329					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CACCGGCGCACGCACACGGGC	0.677																																					p.T329M													.	.			0			c.C986T												46	50	49					16																	3169647		2197	4299	6496	SO:0001583	missense	7755	exon7			GGCGCACGCACAC	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.986C>T	16.37:g.3169647C>T	ENSP00000371627:p.Thr329Met		27	0	0		20	0.1	2	NM_001042428	70	0	0	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271537	0.59649	.	.	ENSG00000122386	ENST00000382192;ENST00000219091	T;T	0.01025	5.43;5.43	5.15	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.164453	0.29908	N	0.010887	T	0.03390	0.0098	M	0.69185	2.1	0.26870	N	0.967767	D	0.71674	0.998	D	0.63488	0.915	T	0.13495	-1.0507	10	0.56958	D	0.05	-9.1361	10.2442	0.43330	0.0:0.8059:0.0:0.1941	.	329	O95201	ZN205_HUMAN	M	329	ENSP00000371627:T329M;ENSP00000219091:T329M	ENSP00000219091:T329M	T	+	2	0	ZNF205	3109648	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.198000	0.09505	1.176000	0.42840	0.462000	0.41574	ACG			0.677	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000309057.1		NM_003456		T	3169647	C	T	3169647	3	4	74	1	0	0	0	0	1	0	0	0	17787	536	19	1	1008	1	ZNF205	16	3169647	Missense_Mutation	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10		3169647	87185106	53	5315											
HIRIP3	8479	mdanderson.org	37	chr16	30005069	30005069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgatgggcaccacaggcccGaatgtagcgcttcagcctca	9	7	11	14	3	2	0	2	0	0	0	3	2	2	0	3	2	2	3	3	2	2	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr16:30005069G>A	ENST00000279392.3	-	5	2130	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	HIRIP3_ENST00000564026.1_Missense_Mutation_p.S121L|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567254.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	434					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCACAGGCCCGAATGTAGCGC	0.607																																					p.R434W													.	.			0			c.C1300T												52	55	54					16																	30005069		2197	4300	6497	SO:0001583	missense	8479	exon5			AGGCCCGAATGTA	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1300C>T	16.37:g.30005069G>A	ENSP00000279392:p.Arg434Trp		26	0	0		30	0.1	3	NM_003609	125	0	0	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481385	0.44147	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.35236	1.32	5.55	4.58	0.56647	.	0.365401	0.25860	N	0.027830	T	0.21103	0.0508	L	0.33485	1.01	0.23156	N	0.998204	P	0.44659	0.84	B	0.30495	0.116	T	0.19192	-1.0313	10	0.52906	T	0.07	-7.4542	8.3071	0.32049	0.0842:0.1557:0.7601:0.0	.	434	Q9BW71	HIRP3_HUMAN	W	434;121	ENSP00000279392:R434W	ENSP00000279392:R434W	R	-	1	2	HIRIP3	29912570	0.322000	0.24634	1.000000	0.80357	0.995000	0.86356	1.259000	0.32956	1.316000	0.45131	0.655000	0.94253	CGG			0.607	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255160.2		NM_003609		A	30005069	G	A	30005069	3	1	74	1	0	0	0	0	1	0	0	0	7136	1057	37	1	382	1	HIRIP3	16	30005069	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	26835422	30005069	60349684	54	5316											
PHKB	5257	mdanderson.org	37	chr16	47531349	47531349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagcattaatcttccaaGacctgataatgaaactctct	16	12	4	9	0	2	3	0	2	2	1	4	3	3	3	2	0	2	1	2	0	6	4			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr16:47531349G>T	ENST00000323584.5	+	2	140	c.116G>T	c.(115-117)aGa>aTa	p.R39I	PHKB_ENST00000455779.1_Missense_Mutation_p.R32I|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.R32I|PHKB_ENST00000299167.8_Missense_Mutation_p.R39I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	39					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)|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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AATCTTCCAAGACCTGATAAT	0.328																																					p.R39I													PHKB_ENST00000323584,NS,carcinoma,0,3	PHKB_ENST00000323584	0	3	0			c.G116T												76	77	77					16																	47531349		2201	4300	6501	SO:0001583	missense	5257	exon2			TTCCAAGACCTGA		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.116G>T	16.37:g.47531349G>T	ENSP00000313504:p.Arg39Ile		39	0	0		30	0.1	3	NM_000293	22	0	0	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852314	0.51270	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90676	-2.71;-2.7	5.9	3.96	0.45880	.	0.346288	0.33401	N	0.004959	T	0.81044	0.4741	N	0.08118	0	0.58432	D	0.999999	P;B;P	0.44578	0.838;0.002;0.731	P;B;P	0.45071	0.466;0.003;0.468	T	0.75941	-0.3140	10	0.16896	T	0.51	-14.7387	10.4189	0.44338	0.2234:0.0:0.7766:0.0	.	32;39;32	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	I	32;32;39	ENSP00000414345:R32I;ENSP00000313504:R39I	ENSP00000299167:R32I	R	+	2	0	PHKB	46088850	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	2.567000	0.45956	0.842000	0.35045	0.591000	0.81541	AGA			0.328	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000430413.1				T	47531349	G	T	47531349	3	4	74	1	0	0	0	0	1	0	0	0	11862	942	33	3	181	3	PHKB	16	47531349	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	17526280	47531349	42823404	55	5317											
SPG7	6687	mdanderson.org	37	chr16	89598891	89598891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggcgctgcccgtgtgCggagcctctttaaggaagcc	5	8	14	14	4	1	0	0	0	1	0	2	2	1	2	4	3	4	1	4	3	2	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr16:89598891C>T	ENST00000268704.2	+	9	1186	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Missense_Mutation_p.R391W	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	391					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGCCCGTGTGCGGAGCCTCTT	0.587																																					p.R391W													SPG7_ENST00000341316,NS,carcinoma,0,8	SPG7_ENST00000341316	0	8	0			c.C1171T												35	40	38					16																	89598891		2188	4290	6478	SO:0001583	missense	6687	exon9			CGTGTGCGGAGCC	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1171C>T	16.37:g.89598891C>T	ENSP00000268704:p.Arg391Trp		57	0	0		49	0.06	3	NM_003119	97	0	0	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878762	0.72294	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.94417	-3.42;-3.42	5.63	4.66	0.58398	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99425	1.0934	10	0.87932	D	0	-1.2096	15.8214	0.78648	0.137:0.863:0.0:0.0	.	391;391	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	W	391	ENSP00000268704:R391W;ENSP00000341157:R391W	ENSP00000268704:R391W	R	+	1	2	SPG7	88126392	0.998000	0.40836	1.000000	0.80357	0.514000	0.34195	3.846000	0.55888	1.345000	0.45676	0.456000	0.33151	CGG			0.587	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269921.2		NM_003119		T	89598891	C	T	89598891	3	4	74	1	0	0	0	0	1	0	0	0	15067	759	27	1	1205	1	SPG7	16	89598891	Missense_Mutation	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10	42067542	89598891	755862	56	5318											
DNAH2	146754	hgsc.bcm.edu	37	chr17	7637830	7637830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagataaaggagatgctcaGtgcccaggagactgtggaga	13	6	15	7	0	1	4	1	0	0	4	1	7	1	4	1	3	2	2	1	3	2	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr17:7637830G>T	ENST00000572933.1	+	7	2242	c.782G>T	c.(781-783)aGt>aTt	p.S261I	DNAH2_ENST00000389173.2_Missense_Mutation_p.S261I|DNAH2_ENST00000570791.1_Missense_Mutation_p.S261I|DNAH2_ENST00000082259.3_Missense_Mutation_p.S261I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	261	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)				GAGATGCTCAGTGCCCAGGAG	0.527																																					p.S261I													.	.			0			c.G782T												74	72	73					17																	7637830		2203	4300	6503	SO:0001583	missense	146754	exon6			TGCTCAGTGCCCA	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.782G>T	17.37:g.7637830G>T	ENSP00000458355:p.Ser261Ile		46	0	0		80	0.05	4	NM_020877	0		0	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181246	0.78677	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.57107	0.42;0.42	5.63	5.63	0.86233	Dynein heavy chain, domain-1 (1);	1.180830	0.05800	N	0.611986	T	0.71871	0.3391	M	0.67953	2.075	0.45330	D	0.998323	P;D	0.53619	0.669;0.961	B;P	0.56865	0.265;0.808	T	0.60984	-0.7154	10	0.45353	T	0.12	.	18.4634	0.90747	0.0:0.0:1.0:0.0	.	261;261	Q9P225;Q9P225-3	DYH2_HUMAN;.	I	261	ENSP00000373825:S261I;ENSP00000082259:S261I	ENSP00000082259:S261I	S	+	2	0	DNAH2	7578555	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.328000	0.52052	2.671000	0.90904	0.455000	0.32223	AGT			0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440241.1		NM_020877		T	7637830	G	T	7637830	3	4	74	1	0	0	0	0	1	0	0	0	4607	1029	36	3	804	3	DNAH2	17	7637830	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		7637830	73557380	57	5319											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		112	0.0446428571	5		200	0.06	11	NM_145301	40	0.33	13	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	74	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10	7819257	15457087	65738123	58	5320											
RASL10B	91608	mdanderson.org	37	chr17	34062225	34062225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtctccacctaccgggtgGccgtgctgggggcgcgaggt	3	8	18	12	4	1	0	0	0	1	0	2	1	1	0	4	6	2	1	4	6	1	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr17:34062225G>T	ENST00000268864.3	+	2	399	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	8	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTACCGGGTGGCCGTGCTGGG	0.701																																					p.A8S													.	.			0			c.G22T												57	57	57					17																	34062225		2203	4299	6502	SO:0001583	missense	91608	exon2			CGGGTGGCCGTGC	BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.22G>T	17.37:g.34062225G>T	ENSP00000268864:p.Ala8Ser		32	0	0		41	0.07	3	NM_033315	18	0	0	B3KV31	Missense_Mutation	SNP	ENST00000268864.3	37	CCDS11297.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792340	0.90453	.	.	ENSG00000141150	ENST00000268864	T	0.77358	-1.09	3.87	3.87	0.44632	.	0.000000	0.46442	D	0.000295	D	0.87261	0.6133	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.89163	0.3531	10	0.66056	D	0.02	.	14.9734	0.71251	0.0:0.0:1.0:0.0	.	8	Q96S79	RSLAB_HUMAN	S	8	ENSP00000268864:A8S	ENSP00000268864:A8S	A	+	1	0	RASL10B	31086338	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.180000	0.94867	1.987000	0.57996	0.462000	0.41574	GCC			0.701	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256498.2		NM_033315		T	34062225	G	T	34062225	3	4	74	1	0	0	0	0	1	0	0	0	13103	1203	42	2	24	2	RASL10B	17	34062225	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	18605138	34062225	47132985	59	5321											
IKZF3	22806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	37922278	37922278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagtctcttgggcagatgGgcgggggcttgaggagttcg	5	9	20	7	3	1	2	0	1	1	1	3	4	1	4	0	6	0	3	0	6	0	3			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr17:37922278G>A	ENST00000346872.3	-	8	1356	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	IKZF3_ENST00000377952.2_Missense_Mutation_p.P211L|IKZF3_ENST00000346243.3_Missense_Mutation_p.P354L|IKZF3_ENST00000439016.2_Missense_Mutation_p.P337L|IKZF3_ENST00000583368.1_Missense_Mutation_p.P185L|IKZF3_ENST00000394189.2_Missense_Mutation_p.P250L|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000350532.3_Missense_Mutation_p.P393L|IKZF3_ENST00000377958.2_Missense_Mutation_p.P345L|IKZF3_ENST00000535189.1_Missense_Mutation_p.P398L|IKZF3_ENST00000377945.3_Missense_Mutation_p.P298L|IKZF3_ENST00000377944.3_Missense_Mutation_p.P289L|IKZF3_ENST00000467757.1_Missense_Mutation_p.P376L|IKZF3_ENST00000351680.3_Missense_Mutation_p.P393L|IKZF3_ENST00000439167.2_Missense_Mutation_p.P359L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	432					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			TGGGCAGATGGGCGGGGGCTT	0.557																																					p.P432L													IKZF3,NS,neuroblastoma,+1,1	IKZF3	1	1	0			c.C1295T												128	130	129					17																	37922278		2203	4300	6503	SO:0001583	missense	22806	exon8			CAGATGGGCGGGG	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1295C>T	17.37:g.37922278G>A	ENSP00000344544:p.Pro432Leu		79	0	0		119	0.31	37	NM_012481	1	0	0	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.40|12.40	1.926123|1.926123	0.34002|0.34002	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T;T;T;T|.	0.09163|.	3.47;3.46;3.22;3.01;3.71;3.28;3.31;3.38;3.28;4.28|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.106119|0.106119	0.42682|0.42682	D|D	0.000673|0.000673	T|T	0.49304|0.49304	0.1549|0.1549	L|L	0.29908|0.29908	0.895|0.895	0.53005|0.53005	D|D	0.999962|0.999962	P;B;B;B;P;B;B;B;B;B;B;P;P|.	0.37663|.	0.481;0.435;0.435;0.435;0.481;0.064;0.214;0.302;0.009;0.055;0.332;0.604;0.462|.	B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.35813|.	0.117;0.167;0.124;0.167;0.164;0.059;0.167;0.124;0.008;0.062;0.167;0.167;0.211|.	T|T	0.36720|0.36720	-0.9736|-0.9736	10|7	0.42905|0.06625	T|T	0.14|0.88	-16.2107|-16.2107	15.3581|15.3581	0.74443|0.74443	0.0:0.1389:0.8611:0.0|0.0:0.1389:0.8611:0.0	.|.	345;211;250;298;289;398;354;337;393;376;393;359;432|.	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	L|S	432;337;298;250;289;345;211;398;393;354;393;376|347;386	ENSP00000367180:P298L;ENSP00000377741:P250L;ENSP00000367179:P289L;ENSP00000367194:P345L;ENSP00000367188:P211L;ENSP00000438972:P398L;ENSP00000345622:P393L;ENSP00000341977:P354L;ENSP00000344471:P393L;ENSP00000420463:P376L|.	ENSP00000341977:P354L|ENSP00000403027:P386S	P|P	-|-	2|1	0|0	IKZF3|IKZF3	35175804|35175804	0.998000|0.998000	0.40836|0.40836	0.990000|0.990000	0.47175|0.47175	0.299000|0.299000	0.27559|0.27559	5.173000|5.173000	0.65010|0.65010	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	CCC|CCA			0.557	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257004.2		NM_012481		A	37922278	G	A	37922278	3	1	74	1	0	0	0	0	1	0	0	0	7631	1232	43	3	238	3	IKZF3	17	37922278	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	3860053	37922278	43272932	60	5322											
LPIN2	9663	mdanderson.org	37	chr18	2951054	2951054	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctgagagtcctaccGtgctgcctgggcccccttgt	4	9	12	16	1	0	1	0	1	0	1	1	2	1	1	6	2	3	2	6	2	1	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr18:2951054G>A	ENST00000261596.4	-	4	827	c.589C>T	c.(589-591)Cga>Tga	p.R197*	RP11-737O24.2_ENST00000584431.1_RNA|RP11-737O24.2_ENST00000581488.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	197					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAGTCCTACCGTGCTGCCTGG	0.542																																					p.R197X													.	.			0			c.C589T												128	111	116					18																	2951054		2203	4300	6503	SO:0001630	splice_region_variant	9663	exon4			CCTACCGTGCTGC	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.590+1C>T	18.37:g.2951054G>A			50	0	0		50	0.06	3	NM_014646	14	0	0	A7MD25|D3DUH3	Nonsense_Mutation	SNP	ENST00000261596.4	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094483	0.76870	.	.	ENSG00000101577	ENST00000261596;ENST00000455369	.	.	.	5.92	4.77	0.60923	.	0.141034	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	12.0838	0.53686	0.0:0.0:0.2864:0.7135	.	.	.	.	X	197	.	ENSP00000261596:R197X	R	-	1	2	LPIN2	2941054	1.000000	0.71417	0.984000	0.44739	0.053000	0.15095	3.229000	0.51278	1.075000	0.40932	-0.262000	0.10625	CGA			0.542	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254363.2		NM_014646	Nonsense_Mutation	A	2951054	G	A	2951054	5	1	74	1	0	0	0	0	0	0	1	0	8935	1159	40	1	2169	1	LPIN2	18	2951054	Splice_Site	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		2951054	75126194	61	5323											
KIAA0802	23255	mdanderson.org	37	chr18	8784400	8784400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacgtcgggcttcgggagCgggaagccatcggaggccag	9	4	18	10	5	0	1	0	0	0	1	3	4	0	4	2	5	2	1	2	5	2	1	rs145456770		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr18:8784400C>T	ENST00000306329.11	+	5	2370	c.2370C>T	c.(2368-2370)agC>agT	p.S790S	SOGA2_ENST00000359865.3_Silent_p.S430S|SOGA2_ENST00000400050.3_Silent_p.S430S|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.S430S																							GCTTCGGGAGCGGGAAGCCAT	0.657																																					p.S430S													.	.			0			c.C1290T							C		0,4406		0,0,2203	54	68	63		1290	-4.2	0	18	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CCDC165	NM_015210.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		430/1587	8784400	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23255	exon6			CGGGAGCGGGAAG																												ENST00000306329.11:c.2370C>T	18.37:g.8784400C>T			31	0	0		41	0.07	3	NM_015210	7	0	0		Silent	SNP	ENST00000306329.11	37																																																																																				0		0.657	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000444141.1				T	8784400	C	T	8784400	2	4	74	1	0	0	0	0	0	0	0	1	8209	767	27	1		1	KIAA0802	18	8784400	Silent	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10	5833346	8784400	69292848	62	5324											
SMAD7	4092	mdanderson.org	37	chr18	46476633	46476633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcatccagccctgcccggGccgccgccaccggccccatg	5	3	11	22	4	0	0	0	0	0	0	1	0	1	0	9	2	3	1	9	2	0	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr18:46476633G>A	ENST00000262158.2	-	1	448	c.162C>T	c.(160-162)ggC>ggT	p.G54G	SMAD7_ENST00000591805.1_5'Flank|SMAD7_ENST00000589634.1_Silent_p.G54G	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	54	Poly-Gly.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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 ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ccctgcccgggccgccgccac	0.781																																					p.G54G													.	.			0			c.C162T												2	2	2					18																	46476633		1471	2957	4428	SO:0001819	synonymous_variant	4092	exon1			GCCCGGGCCGCCG	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.162C>T	18.37:g.46476633G>A			13	0	0		12	0.17	2	NM_005904	2	0	0	B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	37	CCDS11936.1																																																																																					0.781	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255906.1		NM_005904		A	46476633	G	A	46476633	2	1	74	1	0	0	0	0	0	0	0	1	14786	1190	42	2		2	SMAD7	18	46476633	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	37692233	46476633	31600615	63	5325											
KANK3	6234	mdanderson.org	37	chr19	8387794	8387794	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtggctgtctgggagccagGgggtgactcgctctggagag	5	9	19	8	1	2	2	0	1	2	1	3	4	2	3	1	5	1	2	1	5	0	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr19:8387794G>T	ENST00000600659.2	+	0	896				NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank|KANK3_ENST00000330915.3_Missense_Mutation_p.P799T	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										TGGGAGCCAGGGGGTGACTCG	0.592																																					p.P799T													.	.			0			c.C2395A												57	49	52					19																	8387794		2203	4300	6503	SO:0001624	3_prime_UTR_variant	256949	exon11			AGCCAGGGGGTGA	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"S ribosomal proteins"	10418	protein-coding gene	gene with protein product	"40S ribosomal protein S28"	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.*655G>T	19.37:g.8387794G>T			28	0	0		43	0.07	3	NM_198471	48	0	0	P25112	Missense_Mutation	SNP	ENST00000600659.2	37	CCDS45953.1	.	.	.	.	.	.	.	.	.	.	G	5.798	0.331473	0.10956	.	.	ENSG00000186994	ENST00000330915	T	0.26660	1.72	3.46	1.31	0.21738	.	.	.	.	.	T	0.16300	0.0392	L	0.38175	1.15	0.09310	N	1	B	0.20988	0.05	B	0.23419	0.046	T	0.36407	-0.9749	9	0.10636	T	0.68	.	5.9221	0.19088	0.2442:0.0:0.7558:0.0	.	799	Q6NY19-2	.	T	799	ENSP00000328923:P799T	ENSP00000328923:P799T	P	-	1	0	KANK3	8293794	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.071000	0.14594	0.469000	0.27268	-0.258000	0.10820	CCT			0.592	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461377.3		NM_001031		T	8387794	G	T	8387794	1	4	74	0	1	0	0	0	0	0	0	0	7993	1232	43	3		3	KANK3	19	8387794	3'UTR	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		8387794	50741189	64	5326											
BRD4	23476	mdanderson.org	37	chr19	15367969	15367969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccggcatcttggcaaagcGcatttcgaacacatcctggt	9	10	10	12	3	1	0	0	0	1	0	4	1	3	0	2	3	2	3	2	3	2	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr19:15367969G>A	ENST00000263377.2	-	8	1578	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.R453C|BRD4_ENST00000371835.4_Missense_Mutation_p.R453C	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	453					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTGGCAAAGCGCATTTCGAAC	0.657			T	C15orf55	lethal midline carcinoma of young people																																p.R453C				Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	BRD4_ENST00000263377,NS,carcinoma,0,2	BRD4_ENST00000263377	0	2	0			c.C1357T												29	27	28					19																	15367969		2203	4300	6503	SO:0001583	missense	23476	exon8			CAAAGCGCATTTC	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1357C>T	19.37:g.15367969G>A	ENSP00000263377:p.Arg453Cys		45	0	0		41	0.07	3	NM_058243	106	0	0	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840985	0.91197	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.25579	1.79;2.13;2.13	5.36	5.36	0.76844	Bromodomain (3);	0.000000	0.64402	D	0.000007	T	0.52273	0.1724	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;0.984;1.0	D;P;D	0.85130	0.997;0.598;0.994	T	0.52990	-0.8501	10	0.59425	D	0.04	-20.8744	17.898	0.88895	0.0:0.0:1.0:0.0	.	453;453;453	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	C	453	ENSP00000263377:R453C;ENSP00000360901:R453C;ENSP00000353112:R453C	ENSP00000263377:R453C	R	-	1	0	BRD4	15228969	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.010000	0.57117	2.523000	0.85059	0.655000	0.94253	CGC			0.657	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000465800.3		NM_058243		A	15367969	G	A	15367969	3	1	74	1	0	0	0	0	1	0	0	0	1506	1087	38	1	2798	1	BRD4	19	15367969	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	6980175	15367969	43761014	65	5327											
GRAMD1A	57655	mdanderson.org	37	chr19	35502430	35502430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctcctcatcttccGcctctggcagaatgcactgc	5	12	7	17	1	3	1	1	0	2	1	6	1	6	1	4	1	3	3	4	1	1	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr19:35502430G>A	ENST00000317991.5	+	7	770	c.578G>A	c.(577-579)cGc>cAc	p.R193H	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R186H|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R280H	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	193						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)			CTCATCTTCCGCCTCTGGCAG	0.617																																					p.R193H													.	.			0			c.G578A												79	84	83					19																	35502430		1932	4119	6051	SO:0001583	missense	57655	exon7			TCTTCCGCCTCTG	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.578G>A	19.37:g.35502430G>A	ENSP00000441032:p.Arg193His		24	0	0		43	0.07	3	NM_020895	309	0	1	A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072498	0.93950	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.27557	1.66;1.67	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.65677	2.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.996;0.994;0.996;0.945	T	0.57774	-0.7753	10	0.87932	D	0	.	14.7684	0.69657	0.0:0.0:1.0:0.0	.	193;193;186;280	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	280;193;186	ENSP00000441032:R193H;ENSP00000439267:R186H	ENSP00000441032:R193H	R	+	2	0	GRAMD1A	40194270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.363000	0.97131	2.338000	0.79540	0.561000	0.74099	CGC			0.617	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000461557.1		NM_020895		A	35502430	G	A	35502430	3	1	74	1	0	0	0	0	1	0	0	0	6762	1087	38	1	604	1	GRAMD1A	19	35502430	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	20134461	35502430	23626553	66	5328											
CAPNS1	826	broad.mit.edu	37	chr19	36631958	36631958	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcggcggcggcggcggCgggggaggcgggggcctggg	3	1	28	9	7	0	0	0	0	0	0	0	1	0	1	1	12	0	0	1	12	1	0	rs567500165		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr19:36631958C>G	ENST00000246533.3	+	2	643	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcgggggaggcg	0.736													C|||	1	0.000199681	0	0	5008	,	,		3971	0.001		0	False		,,,				2504	0				p.G15G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C45G												6	7	7					19																	36631958		1958	3947	5905	SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGGGGA	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.45C>G	19.37:g.36631958C>G			83	0.0120481928	1		114	0.04	5	NM_001749	15	0	0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.736	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				G	36631958	C	G	36631958	2	3	74	1	0	0	0	0	0	0	0	1	2635	755	27	5		5	CAPNS1	19	36631958	Silent	SNP	C	TCGA-2G-AALX-01A-11D-A42Y-10	1129528	36631958	22497025	67	5329											
HRC	3270	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49657880	49657880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtccatactcagtggaGgcctcctcttcctcctcctc	4	13	8	16	0	2	0	1	0	1	0	8	1	7	1	6	3	1	0	6	3	1	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr19:49657880G>A	ENST00000252825.4	-	1	801	c.615C>T	c.(613-615)gcC>gcT	p.A205A	HRC_ENST00000595625.1_Silent_p.A205A	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	205	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ACTCAGTGGAGGcctcctctt	0.572																																					p.A205A	Melanoma(37;75 1097 24567 25669 30645)												.	.			0			c.C615T												121	90	101					19																	49657880		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			AGTGGAGGCCTCC		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.615C>T	19.37:g.49657880G>A			54	0	0		60	0.27	16	NM_002152	5	0.6	3	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																					0.572	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465649.1		NM_002152		A	49657880	G	A	49657880	2	1	74	1	0	0	0	0	0	0	0	1	7367	987	35	3		3	HRC	19	49657880	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	13025922	49657880	9471103	68	5330											
C20orf165	128497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	44515336	44515336	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccgaactcctgggacGggcacggtggggatgccagc	6	7	15	13	3	1	0	0	0	1	0	3	3	3	2	3	5	3	1	3	5	1	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr20:44515336G>T	ENST00000372519.3	-	2	548	c.504C>A	c.(502-504)ccC>ccA	p.P168P		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	168					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCCTGGGACGGGCACGGTGG	0.647																																					p.P168P													.	.			0			c.C504A												64	65	65					20																	44515336		2203	4300	6503	SO:0001819	synonymous_variant	128497	exon2			TGGGACGGGCACG	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.504C>A	20.37:g.44515336G>T			55	0	0		65	0.29	19	NM_080608	2	0.5	1		Silent	SNP	ENST00000372519.3	37	CCDS13383.1																																																																																					0.647	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079541.1				T	44515336	G	T	44515336	2	4	74	1	0	0	0	0	0	0	0	1	2096	1103	39	1		1	C20orf165	20	44515336	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		44515336	18510184	69	5331											
SAMD10	140700	mdanderson.org	37	chr20	62607102	62607102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcaggcggagcacctGctgcagcacctcctgcctct	6	7	10	18	1	1	0	0	0	1	0	2	1	2	1	5	2	6	5	5	2	0	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr20:62607102G>T	ENST00000369886.3	-	4	703	c.529C>A	c.(529-531)Cag>Aag	p.Q177K	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	177	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGGAGCACCTGCTGCAGCACC	0.682																																					p.Q177K													.	.			0			c.C529A												31	36	35					20																	62607102		2203	4298	6501	SO:0001583	missense	140700	exon4			GCACCTGCTGCAG		CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"Sterile alpha motif (SAM) domain containing"	16129	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 136"	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.529C>A	20.37:g.62607102G>T	ENSP00000358902:p.Gln177Lys		12	0	0		17	0.12	2	NM_080621	9	0	0		Missense_Mutation	SNP	ENST00000369886.3	37	CCDS13549.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888761	0.91814	.	.	ENSG00000130590	ENST00000369886	D	0.83163	-1.69	3.99	3.99	0.46301	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.355996	0.27460	U	0.019264	D	0.85652	0.5746	L	0.31664	0.95	0.58432	D	0.999999	D	0.53885	0.963	D	0.71414	0.973	D	0.86463	0.1780	10	0.46703	T	0.11	-5.896	16.0943	0.81110	0.0:0.0:1.0:0.0	.	177	Q9BYL1	SAM10_HUMAN	K	177	ENSP00000358902:Q177K	ENSP00000358902:Q177K	Q	-	1	0	SAMD10	62077546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.302000	0.96175	1.792000	0.52537	0.491000	0.48974	CAG			0.682	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080255.1		NM_080621		T	62607102	G	T	62607102	3	4	74	1	0	0	0	0	1	0	0	0	13838	1328	46	2	87	2	SAMD10	20	62607102	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	18091766	62607102	418418	70	5332											
SFRS15	57466	broad.mit.edu	37	chr21	33074607	33074607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcattactggttcccGctgccatgtccaaaagaggt	8	10	12	11	1	0	1	0	0	0	1	2	1	2	1	3	3	3	4	3	3	3	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr21:33074607G>A	ENST00000286835.7	-	5	789	c.407C>T	c.(406-408)gCg>gTg	p.A136V	SCAF4_ENST00000434667.3_Missense_Mutation_p.A121V|SCAF4_ENST00000399804.1_Missense_Mutation_p.A136V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	136	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					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						ACTGGTTCCCGCTGCCATGTC	0.398																																					p.A136V													SCAF4,NS,carcinoma,+1,1	SCAF4	142	1	0			c.C407T												155	132	140					21																	33074607		2203	4300	6503	SO:0001583	missense	57466	exon5			GTTCCCGCTGCCA	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.407C>T	21.37:g.33074607G>A	ENSP00000286835:p.Ala136Val		178	0	0		254	0.03	7	NM_020706	39	0	0	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399846	0.83120	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.42513	0.97;0.97;0.97	5.69	5.69	0.88448	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.122954	0.53938	D	0.000045	T	0.57651	0.2068	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.982;0.982;0.992;0.982	T	0.49925	-0.8887	10	0.33940	T	0.23	-18.3783	19.8097	0.96542	0.0:0.0:1.0:0.0	.	121;136;136;136	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	V	121;136;136	ENSP00000402377:A121V;ENSP00000286835:A136V;ENSP00000382703:A136V	ENSP00000286835:A136V	A	-	2	0	SCAF4	31996478	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.723000	0.98772	2.685000	0.91497	0.484000	0.47621	GCG			0.398	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000192659.1		XM_047889		A	33074607	G	A	33074607	3	1	74	1	0	0	0	0	1	0	0	0	14194	1087	38	1	3100	1	SFRS15	21	33074607	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		33074607	15055288	71	5333											
C22orf43	51233	broad.mit.edu	37	chr22	23974156	23974156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcataacagggtgcgtcctTccccctgggccagccacagt	7	9	10	15	1	1	0	1	0	0	0	3	0	3	0	5	2	3	0	5	2	1	3			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr22:23974156T>C	ENST00000317749.5	-	1	352	c.55A>G	c.(55-57)Aag>Gag	p.K19E	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		19										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GGTGCGTCCTTCCCCCTGGGC	0.532																																					p.K19E													.	C22orf43	18		0			c.A55G												93	95	95					22																	23974156		1965	4139	6104	SO:0001583	missense	51233	exon1			CGTCCTTCCCCCT																												ENST00000317749.5:c.55A>G	22.37:g.23974156T>C	ENSP00000316137:p.Lys19Glu		122	0.0081967213	1		151	0.04	6	NM_016449	3	0	0	Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	t	6.700	0.497794	0.12762	.	.	ENSG00000189269	ENST00000317749	T	0.32515	1.45	0.14	-0.28	0.12886	.	.	.	.	.	T	0.30324	0.0761	L	0.34521	1.04	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.20306	-1.0279	8	0.51188	T	0.08	.	.	.	.	.	19	Q6PGQ1	CV043_HUMAN	E	19	ENSP00000316137:K19E	ENSP00000316137:K19E	K	-	1	0	C22orf43	22304156	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.944000	0.03913	-1.393000	0.02079	-1.425000	0.01104	AAG			0.532	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319708.2				C	23974156	T	C	23974156	3	2	74	1	0	0	0	0	1	0	0	0	2152	1792	62	4	682	4	C22orf43	22	23974156	Missense_Mutation	SNP	T	TCGA-2G-AALX-01A-11D-A42Y-10		23974156	27330410	72	5334											
MKL1	57591	mdanderson.org	37	chr22	40807620	40807620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtgtccatgggtgacgggGggtggtccaggatggcagtg	6	8	21	6	1	0	1	0	1	0	0	2	2	2	2	2	8	0	1	2	8	0	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr22:40807620G>T	ENST00000355630.3	-	15	3160	c.2570C>A	c.(2569-2571)cCc>cAc	p.P857H	MKL1_ENST00000402042.1_Missense_Mutation_p.P807H|MKL1_ENST00000396617.3_3'UTR|MKL1_ENST00000407029.1_Missense_Mutation_p.P857H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	857					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						GGGTGACGGGGGGTGGTCCAG	0.627			T	RBM15	acute megakaryocytic leukemia																																p.P857H				Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	.	.			0			c.C2570A												82	65	71					22																	40807620		2203	4300	6503	SO:0001583	missense	57591	exon15			GACGGGGGGTGGT	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.2570C>A	22.37:g.40807620G>T	ENSP00000347847:p.Pro857His		37	0	0		34	0.09	3	NM_020831	117	0	0	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657652	0.88154	.	.	ENSG00000196588	ENST00000355630;ENST00000402042;ENST00000407029;ENST00000499213	T;T;T	0.61627	0.1;0.09;0.1	4.65	4.65	0.58169	.	0.167755	0.52532	D	0.000064	T	0.73713	0.3622	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73550	-0.3947	10	0.44086	T	0.13	-23.8263	18.1028	0.89510	0.0:0.0:1.0:0.0	.	807;857	B0QY83;Q969V6	.;MKL1_HUMAN	H	857;807;857;11	ENSP00000347847:P857H;ENSP00000385584:P807H;ENSP00000385835:P857H	ENSP00000347847:P857H	P	-	2	0	MKL1	39137566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.248000	0.95456	2.586000	0.87340	0.561000	0.74099	CCC			0.627	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321522.1		NM_020831		T	40807620	G	T	40807620	3	4	74	1	0	0	0	0	1	0	0	0	9617	1232	43	3	229	3	MKL1	22	40807620	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	16833464	40807620	10496946	73	5335											
TNFRSF13C	115650	mdanderson.org	37	chr22	42322228	42322228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccaggcccagcagcgcggGggcgccaaagagcagcccgg	8	1	17	15	4	0	1	0	0	0	1	0	1	0	1	4	4	5	2	4	4	1	0			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr22:42322228G>T	ENST00000291232.3	-	2	288	c.244C>A	c.(244-246)Ccc>Acc	p.P82T	MIR378I_ENST00000582688.1_RNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	82					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				lung(2)|urinary_tract(1)	3						agcAGCGCGGGGGCGCCAAAG	0.781																																					p.P82T													.	.			0			c.C244A												5	6	6					22																	42322228		1886	3777	5663	SO:0001583	missense	115650	exon2			GCGCGGGGGCGCC	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"Tumor necrosis factor receptor superfamily", "CD molecules"	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.244C>A	22.37:g.42322228G>T	ENSP00000291232:p.Pro82Thr		19	0	0		19	0.11	2	NM_052945	2	0	0		Missense_Mutation	SNP	ENST00000291232.3	37	CCDS14024.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020765	0.54576	.	.	ENSG00000159958	ENST00000291232	T	0.70282	-0.47	3.16	3.16	0.36331	.	0.000000	0.53938	D	0.000055	T	0.73458	0.3589	L	0.32530	0.975	0.35175	D	0.771936	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.79339	-0.1844	10	0.59425	D	0.04	-9.9864	10.0698	0.42325	0.0:0.0:1.0:0.0	.	82;82	Q5H8V1;Q96RJ3	.;TR13C_HUMAN	T	82	ENSP00000291232:P82T	ENSP00000291232:P82T	P	-	1	0	TNFRSF13C	40652174	1.000000	0.71417	0.998000	0.56505	0.420000	0.31355	2.103000	0.41806	2.063000	0.61619	0.313000	0.20887	CCC			0.781	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322046.1				T	42322228	G	T	42322228	3	4	74	1	0	0	0	0	1	0	0	0	16311	1232	43	3	318	3	TNFRSF13C	22	42322228	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	1514608	42322228	8982338	74	5336											
CPT1B	1375	mdanderson.org	37	chr22	51016324	51016324	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgaactggaaggccacGgcctggtgagcttccgccat	8	7	13	13	3	0	2	0	2	0	0	1	3	1	3	5	4	2	1	5	4	2	1			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chr22:51016324G>T	ENST00000360719.2	-	2	158	c.21C>A	c.(19-21)gcC>gcA	p.A7A	CHKB-CPT1B_ENST00000452668.1_5'UTR|CPT1B_ENST00000312108.7_Silent_p.A7A|CPT1B_ENST00000405237.3_Silent_p.A7A|CPT1B_ENST00000440709.1_Silent_p.A7A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CHKB_ENST00000463053.1_5'Flank|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000395650.2_Silent_p.A7A|CPT1B_ENST00000457250.1_Silent_p.A7A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	7					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		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)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GGAAGGCCACGGCCTGGTGAG	0.692																																					p.A7A	Esophageal Squamous(170;988 1933 25577 30295 48163)												.	.			0			c.C21A												51	47	49					22																	51016324		2203	4300	6503	SO:0001819	synonymous_variant	1375	exon2			GGCCACGGCCTGG	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.21C>A	22.37:g.51016324G>T			26	0	0		32	0.09	3	NM_001145135	38	0	0	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	CCDS14098.1																																																																																					0.692	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317264.5		NM_152246		T	51016324	G	T	51016324	2	4	74	1	0	0	0	0	0	0	0	1	3834	1103	39	1		1	CPT1B	22	51016324	Silent	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	8694096	51016324	288242	75	5337											
VCX	26609	bcgsc.ca	37	chrX	7811810	7811810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtggaagaaccactgaGtcaggagagccaggtggagg	12	4	18	7	1	1	3	1	1	0	2	1	7	1	5	2	6	2	0	2	6	2	0	rs149395826		TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chrX:7811810G>C	ENST00000381059.3	+	3	593	c.374G>C	c.(373-375)aGt>aCt	p.S125T	VCX_ENST00000341408.4_Intron	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	125	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GAACCACTGAGTCAGGAGAGC	0.617																																					p.S125T													.	VCX	28		0			c.G374C												35	45	42					X																	7811810		1509	3129	4638	SO:0001583	missense	26609	exon3			CACTGAGTCAGGA	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"variable charge, X chromosome"			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.374G>C	X.37:g.7811810G>C	ENSP00000370447:p.Ser125Thr		90	0	0		176	0.07	12	NM_013452	6	0	0	A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	ENST00000381059.3	37	CCDS14128.1	.	.	.	.	.	.	.	.	.	.	-	5.303	0.241346	0.10077	.	.	ENSG00000182583	ENST00000381059	T	0.28255	1.62	.	.	.	.	.	.	.	.	T	0.24509	0.0594	L	0.43923	1.385	0.80722	D	1	B	0.28667	0.219	B	0.39217	0.294	T	0.05784	-1.0864	8	0.11485	T	0.65	.	5.8617	0.18752	9.0E-4:0.0:0.9991:0.0	.	125	Q9H320	VCX1_HUMAN	T	125	ENSP00000370447:S125T	ENSP00000370447:S125T	S	+	2	0	VCX	7771810	0.010000	0.17322	0.074000	0.20217	0.075000	0.17131	0.831000	0.27476	0.068000	0.16574	0.068000	0.15388	AGT			0.617	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000071474.1		NM_013452		C	7811810	G	C	7811810	3	2	74	1	0	0	0	0	1	0	0	0	17166	1029	36	5	380	5	VCX	23	7811810	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10		7811810	147458750	76	5338											
TSC22D3	1831	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	106957876	106957876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttcaacagggtgttcTcacgctctagctgggagttc	6	12	13	10	1	4	0	2	0	3	0	6	1	4	1	0	3	2	4	0	3	2	4			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chrX:106957876T>C	ENST00000372397.2	-	3	601	c.278A>G	c.(277-279)gAg>gGg	p.E93G	TSC22D3_ENST00000372390.4_Missense_Mutation_p.E36G|TSC22D3_ENST00000372384.2_Missense_Mutation_p.E159G|TSC22D3_ENST00000315660.4_Missense_Mutation_p.E159G|TSC22D3_ENST00000506081.1_Missense_Mutation_p.E159G|TSC22D3_ENST00000372383.4_Missense_Mutation_p.E159G|TSC22D3_ENST00000514426.1_Missense_Mutation_p.E91G|TSC22D3_ENST00000372382.4_Missense_Mutation_p.E69G	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	93	Leucine-zipper.				body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						CAGGGTGTTCTCACGCTCTAG	0.562																																					p.E159G													.	.			0			c.A476G												166	151	156					X																	106957876		2203	4300	6503	SO:0001583	missense	1831	exon3			GTGTTCTCACGCT	Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"glucocorticoid-induced leucine zipper"	300506	"delta sleep inducing peptide, immunoreactor"	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.278A>G	X.37:g.106957876T>C	ENSP00000361474:p.Glu93Gly		62	0	0		122	0.04	5	NM_198057	406	0	1	Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	ENST00000372397.2	37	CCDS14531.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190473	0.78789	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.84334	0.0523	9	0.87932	D	0	-13.2289	12.659	0.56803	0.0:0.0:0.0:1.0	.	159;93	Q99576-3;Q99576	.;T22D3_HUMAN	G	36;93;159;159;159;138;69;159;91	.	ENSP00000314655:E159G	E	-	2	0	TSC22D3	106844532	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.020000	0.88740	1.965000	0.57142	0.486000	0.48141	GAG			0.562	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057843.2		NM_198057		C	106957876	T	C	106957876	3	2	74	1	0	0	0	0	1	0	0	0	16633	1551	54	4	130	4	TSC22D3	23	106957876	Missense_Mutation	SNP	T	TCGA-2G-AALX-01A-11D-A42Y-10	99146066	106957876	48312684	77	5339											
BRCC3	79184	mdanderson.org	37	chrX	154305544	154305544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctccagagcagctgtctGcagcttcaacagaggcagag	10	9	11	11	0	3	3	1	0	2	3	4	3	3	3	1	1	5	5	1	1	1	2			TCGA-2G-AALX-01A-11D-A42Y-10	TCGA-2G-AALX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf2e58a-b110-4629-ad4d-c9d3e9ae9fd1	6f7b63d6-eada-4f34-bd4c-3740da653338	g.chrX:154305544G>A	ENST00000369462.1	+	4	320	c.295G>A	c.(295-297)Gca>Aca	p.A99T	BRCC3_ENST00000399042.1_Missense_Mutation_p.A99T|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Missense_Mutation_p.A99T|BRCC3_ENST00000369459.2_Missense_Mutation_p.A99T|BRCC3_ENST00000340647.4_Missense_Mutation_p.A100T	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	99	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)					GCAGCTGTCTGCAGCTTCAAC	0.478																																					p.A100T													.	.			0			c.G298A												98	88	91					X																	154305544		1896	4107	6003	SO:0001583	missense	79184	exon4			CTGTCTGCAGCTT	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.295G>A	X.37:g.154305544G>A	ENSP00000358474:p.Ala99Thr		19	0	0		38	0.08	3	NM_001242640	35	0	0	A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654155	0.88056	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026;ENST00000399026	T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	M	0.77486	2.375	0.58432	D	0.999997	P;P;P	0.49358	0.617;0.617;0.923	B;B;P	0.51550	0.242;0.242;0.673	T	0.62058	-0.6934	10	0.20519	T	0.43	-13.5119	15.2839	0.73814	0.0:0.0:1.0:0.0	.	100;99;99	P46736-3;P46736-2;P46736	.;.;BRCC3_HUMAN	T	100;99;99;99;75;99;99;41	ENSP00000344103:A100T;ENSP00000328641:A99T;ENSP00000358471:A99T;ENSP00000358474:A99T;ENSP00000413170:A75T;ENSP00000381998:A99T;ENSP00000381988:A41T	ENSP00000328641:A99T	A	+	1	0	BRCC3	153958738	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.025000	0.93694	2.287000	0.76781	0.523000	0.50628	GCA			0.478	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000058788.4		NM_024332		A	154305544	G	A	154305544	3	1	74	1	0	0	0	0	1	0	0	0	1502	1319	46	2	309	2	BRCC3	23	154305544	Missense_Mutation	SNP	G	TCGA-2G-AALX-01A-11D-A42Y-10	47347668	154305544	965016	78	5340											
USP48	84196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	22028019	22028019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggatctttttctccaTctggtttagcttcttccttg	5	20	6	10	0	5	0	0	0	5	0	7	1	6	1	2	2	1	2	2	2	2	7			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr1:22028019T>C	ENST00000308271.9	-	22	3347	c.2699A>G	c.(2698-2700)gAt>gGt	p.D900G	USP48_ENST00000374732.3_Missense_Mutation_p.D438G|USP48_ENST00000529637.1_Missense_Mutation_p.D912G|USP48_ENST00000400301.1_Missense_Mutation_p.D900G	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	900					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)		TTTTTCTCCATCTGGTTTAGC	0.433																																					p.D900G													.	.			0			c.A2699G												167	165	166					1																	22028019		2203	4300	6503	SO:0001583	missense	84196	exon22			TCTCCATCTGGTT	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.2699A>G	1.37:g.22028019T>C	ENSP00000309262:p.Asp900Gly		79	0	0		77	0.19	15	NM_032236	131	0.31	41	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700165	0.48307	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.05717	3.48;3.43;3.4	6.02	6.02	0.97574	.	0.141985	0.64402	D	0.000004	T	0.11410	0.0278	L	0.54323	1.7	0.53005	D	0.999966	P;B;P;P;B;P	0.42692	0.748;0.03;0.787;0.526;0.189;0.787	B;B;B;B;B;B	0.42771	0.301;0.018;0.397;0.393;0.112;0.397	T	0.00557	-1.1672	10	0.87932	D	0	.	15.7305	0.77800	0.0:0.0:0.0:1.0	.	912;900;25;900;900;438	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;.;UBP48_HUMAN;.	G	900;900;438;912	ENSP00000383157:D900G;ENSP00000309262:D900G;ENSP00000431949:D912G	ENSP00000309262:D900G	D	-	2	0	USP48	21900606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.592000	0.74095	2.299000	0.77371	0.528000	0.53228	GAT			0.433	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021372.1		NM_032236		C	22028019	T	C	22028019	3	2	75	1	0	0	0	0	1	0	0	0	17103	1435	50	4	432	4	USP48	1	22028019	Missense_Mutation	SNP	T	TCGA-2G-AALY-01A-11D-A42Y-10		22028019	227222602	1	5341											
ATPAF1	64756	mdanderson.org	37	chr1	47101480	47101480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggttctgggcacatttcaGttctgctccaagtccgcttt	5	16	9	11	1	3	0	1	0	2	0	5	0	5	0	2	2	1	5	2	2	1	5			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr1:47101480G>T	ENST00000371937.4	-	9	1059	c.955C>A	c.(955-957)Ctg>Atg	p.L319M	ATPAF1_ENST00000574428.1_Missense_Mutation_p.L251M|ATPAF1_ENST00000532925.1_Missense_Mutation_p.L231M|ATPAF1_ENST00000576409.1_Missense_Mutation_p.L342M|ATPAF1_ENST00000542495.1_Missense_Mutation_p.L168M|ATPAF1_ENST00000329231.4_Missense_Mutation_p.L274M	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	319					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCACATTTCAGTTCTGCTCCA	0.478																																					p.L342M	Melanoma(138;107 1777 21672 30337 52312)												.	.			0			c.C1024A												249	227	234					1																	47101480		2203	4300	6503	SO:0001583	missense	64756	exon9			ATTTCAGTTCTGC	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.955C>A	1.37:g.47101480G>T	ENSP00000361005:p.Leu319Met		43	0	0		40	0.08	3	NM_022745	50	0	0	B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.96|18.96	3.734436|3.734436	0.69189|0.69189	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000371937;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925|ENST00000534216	T;T|.	0.56776|.	0.44;0.95|.	6.03|6.03	5.12|5.12	0.69794|0.69794	.|.	0.308584|.	0.31199|.	N|.	0.008062|.	T|T	0.56077|0.56077	0.1961|0.1961	L|L	0.54323|0.54323	1.7|1.7	0.34820|0.34820	D|D	0.738561|0.738561	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.83275|.	0.933;0.996;0.963|.	T|T	0.66023|0.66023	-0.6026|-0.6026	10|5	0.72032|.	D|.	0.01|.	-9.7109|-9.7109	10.415|10.415	0.44316|0.44316	0.1467:0.0:0.8533:0.0|0.1467:0.0:0.8533:0.0	.|.	231;251;319|.	B7Z7I6;A8MRA7;Q5TC12|.	.;.;ATPF1_HUMAN|.	M|K	319;165;168;251;231|173	ENSP00000361005:L319M;ENSP00000330685:L251M|.	ENSP00000330685:L251M|.	L|N	-|-	1|3	2|2	ATPAF1|ATPAF1	46874067|46874067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.379000|3.379000	0.52440|0.52440	1.552000|1.552000	0.49463|0.49463	0.655000|0.655000	0.94253|0.94253	CTG|AAC			0.478	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding				NM_022745		T	47101480	G	T	47101480	3	4	75	1	0	0	0	0	1	0	0	0	1200	1020	36	3	35	3	ATPAF1	1	47101480	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	25073461	47101480	202149141	2	5342											
HRNR	388697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	152191287	152191287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgtaaccagaggactGccctgagctagacttgtgac	10	9	12	10	0	0	5	0	3	0	2	0	6	0	6	2	1	3	2	2	1	2	3			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr1:152191287G>C	ENST00000368801.2	-	3	2893	c.2818C>G	c.(2818-2820)Cag>Gag	p.Q940E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	940					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)			CCAGAGGACTGCCCTGAGCTA	0.577																																					p.Q940E													.	.			0			c.C2818G												252	254	253					1																	152191287		2203	4300	6503	SO:0001583	missense	388697	exon3			AGGACTGCCCTGA	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.2818C>G	1.37:g.152191287G>C	ENSP00000357791:p.Gln940Glu		67	0	0		59	0.36	21	NM_001009931	0		0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	4.575	0.106804	0.08780	.	.	ENSG00000197915	ENST00000368801	T	0.01767	4.65	3.28	-0.0525	0.13822	.	.	.	.	.	T	0.00440	0.0014	L	0.27053	0.805	0.09310	N	1	B	0.17852	0.024	B	0.12837	0.008	T	0.43589	-0.9382	9	0.02654	T	1	.	13.115	0.59295	0.0:0.3744:0.6256:0.0	.	940	Q86YZ3	HORN_HUMAN	E	940	ENSP00000357791:Q940E	ENSP00000357791:Q940E	Q	-	1	0	HRNR	150457911	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.617000	0.05584	-0.118000	0.11851	-0.321000	0.08615	CAG			0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034016.1		XM_373868		C	152191287	G	C	152191287	3	2	75	1	0	0	0	0	1	0	0	0	7374	1328	46	5	5738	5	HRNR	1	152191287	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	105089807	152191287	97059334	3	5343											
MEMO1	51072	mdanderson.org	37	chr2	32168448	32168448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagctgtgcattcagctgCggtcctataaaaagacaaag	13	10	9	9	1	2	1	1	0	1	1	3	1	3	1	1	1	4	3	1	1	6	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr2:32168448C>T	ENST00000295065.5	-	2	375	c.66G>A	c.(64-66)ccG>ccA	p.P22P	MEMO1_ENST00000404530.1_Silent_p.P22P|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Silent_p.P25P|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000426310.2_Silent_p.P22P|MEMO1_ENST00000407893.3_Silent_p.P22P	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	22					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					CATTCAGCTGCGGTCCTATAA	0.393																																					p.P22P													.	.			0			c.G66A												113	112	112					2																	32168448		2203	4300	6503	SO:0001819	synonymous_variant	51072	exon2			CAGCTGCGGTCCT	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"chromosome 2 open reading frame 4"	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.66G>A	2.37:g.32168448C>T			23	0	0		35	0.09	3	NM_015955	3	0	0	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Silent	SNP	ENST00000295065.5	37	CCDS1776.1																																																																																					0.393	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250251.2		NM_015955		T	32168448	C	T	32168448	2	4	75	1	0	0	0	0	0	0	0	1	9487	755	27	1		1	MEMO1	2	32168448	Silent	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10		32168448	211030925	4	5344											
HOXD13	3239	mdanderson.org	37	chr2	176957928	176957928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcccggaggctcccccaGccaaagagtgcccagcaccc	8	2	11	20	3	0	1	0	0	0	1	1	2	1	2	6	2	3	2	6	2	1	0			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr2:176957928G>T	ENST00000392539.3	+	1	310	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	104					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GGCTCCCCCAGCCAAAGAGTG	0.701			T	NUP98	AML*																																p.A104S				Dom	yes		2	2q31-q32	3239	homeo box D13		L	.	.			0			c.G310T												10	12	12					2																	176957928		2052	4051	6103	SO:0001583	missense	3239	exon1			CCCCCAGCCAAAG	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"Homeoboxes / ANTP class : HOXL subclass"	5136	protein-coding gene	gene with protein product		142989	"homeo box D13"	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.310G>T	2.37:g.176957928G>T	ENSP00000376322:p.Ala104Ser		33	0	0		39	0.08	3	NM_000523	3	0	0		Missense_Mutation	SNP	ENST00000392539.3	37	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	G	7.550	0.662557	0.14645	.	.	ENSG00000128714	ENST00000392539	T	0.41400	1.0	3.66	0.476	0.16779	.	0.277746	0.23758	N	0.044846	T	0.16854	0.0405	N	0.11560	0.145	0.19300	N	0.999979	B	0.06786	0.001	B	0.12837	0.008	T	0.11036	-1.0604	10	0.20046	T	0.44	.	2.6409	0.04971	0.3927:0.0:0.3937:0.2136	.	104	P35453	HXD13_HUMAN	S	104	ENSP00000376322:A104S	ENSP00000376322:A104S	A	+	1	0	HOXD13	176666174	0.413000	0.25400	0.199000	0.23439	0.850000	0.48378	0.731000	0.26058	0.235000	0.21160	0.563000	0.77884	GCC			0.701	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000359256.1				T	176957928	G	T	176957928	3	4	75	1	0	0	0	0	1	0	0	0	7337	971	34	2	312	2	HOXD13	2	176957928	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	144789480	176957928	66241445	5	5345											
TTN	7273	broad.mit.edu	37	chr2	179595012	179595012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactttattgtcatgggtgCagtgccacccacaagagcct	9	10	9	13	0	1	1	1	0	0	1	1	1	1	1	4	1	3	1	4	1	2	3			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr2:179595012C>T	ENST00000591111.1	-	60	17388	c.17164G>A	c.(17164-17166)Gca>Aca	p.A5722T	TTN_ENST00000589042.1_Missense_Mutation_p.A6039T|TTN_ENST00000342992.6_Missense_Mutation_p.A4795T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12528	Ig-like 38.				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)			GTCATGGGTGCAGTGCCACCC	0.463																																					p.A6039T													.	TTN	18412		0			c.G18115A												36	35	35					2																	179595012		1884	4113	5997	SO:0001583	missense	7273	exon62			TGGGTGCAGTGCC	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.17164G>A	2.37:g.179595012C>T	ENSP00000465570:p.Ala5722Thr		72	0	0		80	0.05	4	NM_001267550	0		0	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	12.02	1.812900	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	5.89	5.02	0.67125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51907	0.1702	L	0.35487	1.065	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53136	-0.8481	9	0.87932	D	0	.	5.115	0.14829	0.0:0.6113:0.1576:0.2311	.	5722	Q8WZ42	TITIN_HUMAN	T	4795	ENSP00000343764:A4795T	ENSP00000343764:A4795T	A	-	1	0	TTN	179303257	0.995000	0.38212	0.841000	0.33234	0.995000	0.86356	2.152000	0.42272	1.504000	0.48704	0.655000	0.94253	GCA			0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		T	179595012	C	T	179595012	3	4	75	1	0	0	0	0	1	0	0	0	16759	710	25	2	86618	2	TTN	2	179595012	Missense_Mutation	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10	2637084	179595012	63604361	6	5346											
SPAG16	79582	mdanderson.org	37	chr2	214149283	214149283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatgggtttgacggcaGccggggacgcgagggacacg	7	5	20	9	5	0	1	0	1	0	0	0	4	0	3	1	6	1	3	1	6	0	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr2:214149283G>T	ENST00000331683.5	+	1	171	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	SPAG16_ENST00000447990.1_Missense_Mutation_p.A26S|SPAG16_ENST00000432529.2_Missense_Mutation_p.A26S|SPAG16_ENST00000272898.7_Missense_Mutation_p.A26S|AC079610.2_ENST00000360083.3_lincRNA|SPAG16_ENST00000413312.1_5'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	26					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTTGACGGCAGCCGGGGACGC	0.726																																					p.A26S													.	.			0			c.G76T												15	17	16					2																	214149283		2185	4283	6468	SO:0001583	missense	79582	exon1			ACGGCAGCCGGGG	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.76G>T	2.37:g.214149283G>T	ENSP00000332592:p.Ala26Ser		36	0	0		46	0.07	3	NM_024532	24	0	0	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723472	0.30593	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000272898;ENST00000447990	T	0.57107	0.42	3.67	0.65	0.17812	.	.	.	.	.	T	0.25827	0.0629	N	0.08118	0	0.09310	N	0.999993	B;B;B	0.16396	0.01;0.017;0.003	B;B;B	0.15484	0.003;0.013;0.004	T	0.15549	-1.0433	9	0.27785	T	0.31	.	2.928	0.05791	0.2523:0.0:0.5326:0.2151	.	26;26;26	Q8N0X2;E7EWV3;Q8N0X2-4	SPG16_HUMAN;.;.	S	26	ENSP00000332592:A26S	ENSP00000272898:A26S	A	+	1	0	SPAG16	213857528	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.636000	0.05465	0.014000	0.14944	-0.224000	0.12420	GCC			0.726	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256601.2		NM_024532		T	214149283	G	T	214149283	3	4	75	1	0	0	0	0	1	0	0	0	15001	971	34	2	78	2	SPAG16	2	214149283	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	34554271	214149283	29050090	7	5347											
TRANK1	9881	broad.mit.edu	37	chr3	36873948	36873948	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttatcctgctgcctcTccccctgcccctttcatcct	2	16	3	20	0	2	0	1	0	1	0	6	0	5	0	8	0	3	1	8	0	1	3	rs201976066		TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	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																																					p.R2332G													.	TRANK1	398		0			c.A6994G												117	119	118					3																	36873948		1918	4122	6040	SO:0001583	missense	9881	exon21			TGCCTCTCCCCCT	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		165	0	0		183	0.04	7	NM_014831	7	0	0	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	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		C	36873948	T	C	36873948	3	2	75	1	0	0	0	0	1	0	0	0	16478	1559	54	4	1795	4	TRANK1	3	36873948	Missense_Mutation	SNP	T	TCGA-2G-AALY-01A-11D-A42Y-10		36873948	161148482	8	5348											
ROBO2	6092	mdanderson.org	37	chr3	77666777	77666777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccaacacctcctgttcgagGcgtggcttcttctcctgcta	5	12	8	16	2	2	0	0	0	2	0	5	1	3	0	4	2	2	3	4	2	2	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr3:77666777G>T	ENST00000461745.1	+	22	4307	c.3407G>T	c.(3406-3408)gGc>gTc	p.G1136V	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.G1152V|ROBO2_ENST00000332191.8_Missense_Mutation_p.G1136V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1136					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)		CCTGTTCGAGGCGTGGCTTCT	0.527																																					p.G1136V													ROBO2_ENST00000487694,colon,carcinoma,-1,4	ROBO2_ENST00000487694	-1	4	0			c.G3407T												109	105	106					3																	77666777		2039	4195	6234	SO:0001583	missense	6092	exon22			TTCGAGGCGTGGC	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.3407G>T	3.37:g.77666777G>T	ENSP00000417164:p.Gly1136Val		58	0	0		42	0.07	3	NM_002942	3	0	0	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.185725|4.185725	0.78789|0.78789	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.71817	.|-0.6;-0.56;-0.33	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.46442	.|D	.|0.000300	D|D	0.83880|0.83880	0.5350|0.5350	M|M	0.67397|0.67397	2.05|2.05	.|.	.|.	.|.	.|D;D;P	.|0.89917	.|1.0;0.981;0.915	.|D;P;B	.|0.87578	.|0.998;0.799;0.297	D|D	0.84776|0.84776	0.0770|0.0770	4|9	.|0.72032	.|D	.|0.01	.|.	19.5819|19.5819	0.95471|0.95471	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1152;1136;1136	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	S|V	293|1152;1152;1136;1136	.|ENSP00000417335:G1152V;ENSP00000417164:G1136V;ENSP00000327536:G1136V	.|ENSP00000327536:G1136V	A|G	+|+	1|2	0|0	ROBO2|ROBO2	77749467|77749467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.614000|0.614000	0.37383|0.37383	9.476000|9.476000	0.97823|0.97823	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GCG|GGC			0.527	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000352600.2		XM_031246		T	77666777	G	T	77666777	3	4	75	1	0	0	0	0	1	0	0	0	13537	1203	42	2	3495	2	ROBO2	3	77666777	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	40792829	77666777	120355653	9	5349											
ZBTB11	27107	mdanderson.org	37	chr3	101373562	101373562	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttactgagtacaatgataGcctcgaacctcaggctttgg	11	11	9	10	1	1	2	1	2	0	0	2	3	1	2	2	2	4	2	2	2	5	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr3:101373562G>T	ENST00000312938.4	-	8	2875	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACAATGATAGCCTCGAACCT	0.353																																					p.G765G													.	.			0			c.C2295A												122	123	122					3																	101373562		2203	4300	6503	SO:0001819	synonymous_variant	27107	exon8			ATGATAGCCTCGA	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2295C>A	3.37:g.101373562G>T			83	0	0		64	0.06	4	NM_014415	7	0	0	Q2NKP9	Silent	SNP	ENST00000312938.4	37	CCDS2943.1																																																																																					0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353441.2		NM_014415		T	101373562	G	T	101373562	2	4	75	1	0	0	0	0	0	0	0	1	17547	958	34	2		2	ZBTB11	3	101373562	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	23706785	101373562	96648868	10	5350											
MAN2B2	23324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	6599004	6599004	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccctgcagcagctcCagcagcttcgctgggccgtc	4	7	13	17	2	0	0	0	0	0	0	3	0	1	0	4	2	5	6	4	2	0	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr4:6599004C>T	ENST00000285599.3	+	8	1258	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	MAN2B2_ENST00000504248.1_Nonsense_Mutation_p.Q357*	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	408					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCAGCAGCTCCAGCAGCTTCG	0.647																																					p.Q408X													.	.			0			c.C1222T												36	41	39					4																	6599004		2203	4298	6501	SO:0001587	stop_gained	23324	exon8			CAGCTCCAGCAGC	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1222C>T	4.37:g.6599004C>T	ENSP00000285599:p.Gln408*		84	0	0		79	0.27	21	NM_015274	8	0	0	Q66MP2|Q86T67	Nonsense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	38	6.786590	0.97837	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	.	.	.	5.27	5.27	0.74061	.	0.185812	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-22.9737	17.4272	0.87529	0.0:1.0:0.0:0.0	.	.	.	.	X	408;357	.	ENSP00000285599:Q408X	Q	+	1	0	MAN2B2	6649905	0.859000	0.29813	0.995000	0.50966	0.950000	0.60333	1.596000	0.36718	2.448000	0.82819	0.643000	0.83706	CAG			0.647	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359106.2		NM_015274		T	6599004	C	T	6599004	4	4	75	1	0	0	0	0	0	1	0	0	9233	595	21	3	1252	3	MAN2B2	4	6599004	Nonsense_Mutation	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10		6599004	184555272	11	5351											
NCOA7	135112	mdanderson.org	37	chr6	126176191	126176191	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaaaaaacaagccaaaCaaaatgcagagacagcctca	24	2	6	9	0	1	2	1	0	0	2	1	3	1	2	2	0	5	1	2	0	9	0			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr6:126176191C>G	ENST00000368357.3	+	4	428	c.76C>G	c.(76-78)Caa>Gaa	p.Q26E	NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000487635.1_3'UTR|NCOA7_ENST00000392477.2_Missense_Mutation_p.Q26E	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	26					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACAAGCCAAACAAAATGCAGA	0.373																																					p.Q26E													.	.			0			c.C76G												112	119	117					6																	126176191		2203	4300	6503	SO:0001583	missense	135112	exon3			GCCAAACAAAATG	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.76C>G	6.37:g.126176191C>G	ENSP00000357341:p.Gln26Glu		18	0	0		35	0.09	3	NM_181782	1	0	0	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016198	0.75161	.	.	ENSG00000111912	ENST00000368357;ENST00000431092;ENST00000392477;ENST00000453302;ENST00000417494;ENST00000428318;ENST00000419660	T;T;T;T	0.56103	2.6;2.6;0.65;0.48	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000002	T	0.55081	0.1898	L	0.29908	0.895	0.80722	D	1	D;D;P;P	0.61697	0.99;0.974;0.954;0.956	D;D;D;D	0.73380	0.98;0.969;0.954;0.931	T	0.59648	-0.7415	10	0.72032	D	0.01	-38.874	17.0844	0.86606	0.0:1.0:0.0:0.0	.	26;26;26;26	Q8NI08-6;Q8NI08-2;Q8NI08-4;Q8NI08	.;.;.;NCOA7_HUMAN	E	26	ENSP00000357341:Q26E;ENSP00000376269:Q26E;ENSP00000406363:Q26E;ENSP00000408211:Q26E	ENSP00000357341:Q26E	Q	+	1	0	NCOA7	126217884	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.564000	0.60830	2.704000	0.92352	0.650000	0.86243	CAA			0.373	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000042083.4		XM_059748		G	126176191	C	G	126176191	3	3	75	1	0	0	0	0	1	0	0	0	10251	479	17	5	82	5	NCOA7	6	126176191	Missense_Mutation	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10		126176191	44938876	12	5352											
MED23	9439	mdanderson.org	37	chr6	131913587	131913587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgtaatgttctctcttgGcactaaaggctgactgcaac	9	13	9	10	0	2	1	0	1	2	0	3	1	2	1	0	2	3	6	0	2	4	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr6:131913587G>T	ENST00000368068.3	-	25	3591	c.3412C>A	c.(3412-3414)Cca>Aca	p.P1138T	MED23_ENST00000368060.3_Missense_Mutation_p.P1138T|MED23_ENST00000368058.1_Missense_Mutation_p.P1144T|MED23_ENST00000545957.1_Missense_Mutation_p.P779T|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Missense_Mutation_p.P1144T|MED23_ENST00000403834.3_Missense_Mutation_p.P1144T	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1138					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)		TTCTCTCTTGGCACTAAAGGC	0.343																																					p.P1144T													.	.			0			c.C3430A												146	133	137					6																	131913587		2203	4300	6503	SO:0001583	missense	9439	exon26			CTCTTGGCACTAA	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.3412C>A	6.37:g.131913587G>T	ENSP00000357047:p.Pro1138Thr		69	0	0		61	0.07	4	NM_015979	18	0	0	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863501	0.91511	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	6.02	6.02	0.97574	.	0.046228	0.85682	D	0.000000	D	0.93687	0.7983	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.983	D	0.93336	0.6705	10	0.72032	D	0.01	-12.564	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1138;1144	Q9ULK4;Q9ULK4-3	MED23_HUMAN;.	T	1144;1138;1144;1138;1144;779	ENSP00000346588:P1144T;ENSP00000357047:P1138T;ENSP00000384536:P1144T;ENSP00000357039:P1138T;ENSP00000357037:P1144T;ENSP00000439977:P779T	ENSP00000346588:P1144T	P	-	1	0	MED23	131955280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.651000	0.98493	2.865000	0.98341	0.655000	0.94253	CCA			0.343	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000042215.1				T	131913587	G	T	131913587	3	4	75	1	0	0	0	0	1	0	0	0	9457	1203	42	2	721	2	MED23	6	131913587	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	5737396	131913587	39201480	13	5353											
TAAR2	9287	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	132938975	132938975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttatgctaagcatcaGgtcaaaactataataaatct	16	12	7	6	0	3	0	2	0	1	0	3	1	3	1	0	2	3	3	0	2	8	5			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr6:132938975G>T	ENST00000367931.1	-	2	369	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	TAAR2_ENST00000275191.2_Missense_Mutation_p.L79M|TAAR2_ENST00000537809.1_Missense_Mutation_p.L79M			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	124					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CTAAGCATCAGGTCAAAACTA	0.363																																					p.L124M													.	.			0			c.C370A												77	75	76					6																	132938975		2203	4300	6503	SO:0001583	missense	9287	exon2			GCATCAGGTCAAA	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.370C>A	6.37:g.132938975G>T	ENSP00000356908:p.Leu124Met		39	0	0		55	0.09	5	NM_001033080	0		0	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	G	4.472	0.087433	0.08583	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.20069	2.1;2.1;2.1	6.0	-1.32	0.09201	GPCR, rhodopsin-like superfamily (1);	0.074563	0.48767	D	0.000179	T	0.02193	0.0068	N	0.02876	-0.465	0.24148	N	0.995709	P	0.40681	0.727	B	0.40702	0.338	T	0.44847	-0.9301	10	0.24483	T	0.36	-28.3376	6.2075	0.20610	0.46:0.0:0.3521:0.1879	.	124	Q9P1P5	TAAR2_HUMAN	M	79;124;79	ENSP00000275191:L79M;ENSP00000356908:L124M;ENSP00000441263:L79M	ENSP00000275191:L79M	L	-	1	2	TAAR2	132980668	0.000000	0.05858	0.976000	0.42696	0.639000	0.38242	-0.891000	0.04135	-0.131000	0.11578	-0.312000	0.09012	CTG			0.363	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000390735.1		NM_014626		T	132938975	G	T	132938975	3	4	75	1	0	0	0	0	1	0	0	0	15513	991	35	3	689	3	TAAR2	6	132938975	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	1025388	132938975	38176092	14	5354											
TBP	6908	hgsc.bcm.edu;mdanderson.org	37	chr6	170871016	170871016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacaacaacaGcagcagcagcagcagcagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0	rs542031948		TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr6:170871016G>A	ENST00000392092.2	+	3	471	c.192G>A	c.(190-192)caG>caA	p.Q64Q	TBP_ENST00000230354.6_Silent_p.Q64Q|TBP_ENST00000540980.1_Silent_p.Q44Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacaacaacagcagcagcagc	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		14897	0		0	False		,,,				2504	0				p.Q64Q													TBP,NS,carcinoma,0,2	TBP	0	2	0			c.G192A												31	35	33					6																	170871016		2202	4292	6494	SO:0001819	synonymous_variant	6908	exon3			ACAACAGCAGCAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.192G>A	6.37:g.170871016G>A			59	0	0		64	0.09	6	NM_003194	35	0	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																					0.557	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000043271.2		NM_003194		A	170871016	G	A	170871016	2	1	75	1	0	0	0	0	0	0	0	1	15667	962	34	2		2	TBP	6	170871016	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	37932041	170871016	244051	15	5355											
RAPGEF5	9771	ucsc.edu	37	chr7	22176601	22176601	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaacttcccagggatttTctaaaaaacaaacacaaaca	19	9	3	10	0	1	0	0	0	1	0	2	1	2	1	1	1	4	0	1	1	7	5			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr7:22176601T>A	ENST00000401957.2	-	12	1616	c.1369A>T	c.(1369-1371)Aaa>Taa	p.K457*	RAPGEF5_ENST00000344041.6_Splice_Site_p.K607*			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	457	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CCAGGGATTTTCTAAAAAACA	0.348																																					p.K607X													.	RAPGEF5	96		0			c.A1819T												32	30	31					7																	22176601		1798	4057	5855	SO:0001630	splice_region_variant	9771	exon22			GGATTTTCTAAAA	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.1369-1A>T	7.37:g.22176601T>A			31	0	0		33	0.12	4	NM_012294	0		0	A4D140|Q8IXU5	Nonsense_Mutation	SNP	ENST00000401957.2	37		.	.	.	.	.	.	.	.	.	.	T	44	10.677436	0.99448	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	X	607;459;321;457	.	ENSP00000258735:K321X	K	-	1	0	RAPGEF5	22143126	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.028000	0.76470	2.371000	0.80710	0.533000	0.62120	AAA			0.348	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000326590.2		NM_012294	Nonsense_Mutation	A	22176601	T	A	22176601	5	1	75	1	0	0	0	0	0	0	1	0	13070	1797	62	5	393	5	RAPGEF5	7	22176601	Splice_Site	SNP	T	TCGA-2G-AALY-01A-11D-A42Y-10		22176601	136962062	16	5356											
NOD1	10392	hgsc.bcm.edu;mdanderson.org	37	chr7	30491538	30491538	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctccggcaaagcccGcaggaagcccagctgcatgt	9	4	12	16	2	0	0	0	0	0	0	1	1	1	1	4	2	5	5	4	2	2	0			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr7:30491538G>T	ENST00000222823.4	-	6	2020	c.1495C>A	c.(1495-1497)Cgg>Agg	p.R499R		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	499	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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						GGCAAAGCCCGCAGGAAGCCC	0.632																																					p.R499R													.	.			0			c.C1495A												29	36	33					7																	30491538		2203	4300	6503	SO:0001819	synonymous_variant	10392	exon6			AAGCCCGCAGGAA	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.1495C>A	7.37:g.30491538G>T			69	0	0		85	0.05	4	NM_006092	4	0	0	B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	CCDS5427.1																																																																																					0.632	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250443.2				T	30491538	G	T	30491538	2	4	75	1	0	0	0	0	0	0	0	1	10533	1086	38	1		1	NOD1	7	30491538	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	8314937	30491538	128647125	17	5357											
CALN1	83698	mdanderson.org	37	chr7	71252821	71252821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatgacactgatgatgaagGccatagcaaaggcgcatatg	14	7	12	8	1	0	4	0	4	0	0	0	4	0	4	1	2	1	3	1	2	4	2			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr7:71252821G>T	ENST00000329008.5	-	6	897	c.599C>A	c.(598-600)gCc>gAc	p.A200D	CALN1_ENST00000395275.2_Missense_Mutation_p.A242D|CALN1_ENST00000431984.1_Missense_Mutation_p.A200D|CALN1_ENST00000405452.2_Missense_Mutation_p.A200D|CALN1_ENST00000412588.1_Missense_Mutation_p.A242D|CALN1_ENST00000395276.2_Missense_Mutation_p.A200D	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GATGATGAAGGCCATAGCAAA	0.577																																					p.A242D													.	.			0			c.C725A												132	102	112					7																	71252821		2203	4300	6503	SO:0001583	missense	83698	exon7			ATGAAGGCCATAG	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.599C>A	7.37:g.71252821G>T	ENSP00000332498:p.Ala200Asp		42	0	0		48	0.06	3	NM_031468	4	0	0	J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811049	0.90707	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80480	-1.14;-1.38;-1.14;-1.14;-1.38;-1.14	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86975	0.2100	10	0.87932	D	0	-24.2427	17.5493	0.87872	0.0:0.0:1.0:0.0	.	200;200	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	D	200;242;200;200;242;200	ENSP00000332498:A200D;ENSP00000378690:A242D;ENSP00000378691:A200D;ENSP00000410704:A200D;ENSP00000391882:A242D;ENSP00000384354:A200D	ENSP00000332498:A200D	A	-	2	0	CALN1	70890757	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.748000	0.98867	2.372000	0.80975	0.561000	0.74099	GCC			0.577	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320044.2		NM_031468		T	71252821	G	T	71252821	3	4	75	1	0	0	0	0	1	0	0	0	2593	1203	42	2	64	2	CALN1	7	71252821	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	40761283	71252821	87885842	18	5358											
CFTR	1080	broad.mit.edu	37	chr7	117175426	117175426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcctgatagtccttgcccTttttcaggctgggctaggga	5	15	11	10	0	1	1	1	1	0	0	3	2	3	2	3	3	1	2	3	3	2	6			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	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																												p.L235P													.	CFTR	171		0			c.T704C												128	119	122					7																	117175426		2203	4300	6503	SO:0001583	missense	1080	exon6	Familial Cancer Database	CF	TTGCCCTTTTTCA	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		157	0.0063694268	1		144	0.03	4	NM_000492	0		0	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	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		C	117175426	T	C	117175426	3	2	75	1	0	0	0	0	1	0	0	0	3296	1609	56	4	726	4	CFTR	7	117175426	Missense_Mutation	SNP	T	TCGA-2G-AALY-01A-11D-A42Y-10	45922605	117175426	41963237	19	5359											
GPR124	25960	mdanderson.org	37	chr8	37699257	37699257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgctggctctgggcccctGcaagctcaccaacctgcagc	6	7	10	18	1	2	0	1	0	1	0	3	0	3	0	5	2	5	5	5	2	2	0	rs376732365		TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr8:37699257G>A	ENST00000412232.2	+	19	3414	c.3401G>A	c.(3400-3402)tGc>tAc	p.C1134Y	GPR124_ENST00000315215.7_Missense_Mutation_p.C917Y	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1134					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)			CTGGGCCCCTGCAAGCTCACC	0.751																																					p.C1134Y													.	.			0			c.G3401A												1	2	2					8																	37699257		1194	2705	3899	SO:0001583	missense	25960	exon19			GCCCCTGCAAGCT	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.3401G>A	8.37:g.37699257G>A	ENSP00000406367:p.Cys1134Tyr		18	0	0		25	0.12	3	NM_032777	38	0	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210166	0.79240	.	.	ENSG00000020181	ENST00000315215;ENST00000412232	T;T	0.70282	-0.47;-0.22	4.79	4.79	0.61399	.	0.055148	0.64402	D	0.000001	D	0.82719	0.5098	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70935	0.971;0.956	D	0.85275	0.1058	10	0.87932	D	0	-30.3323	17.8176	0.88639	0.0:0.0:1.0:0.0	.	917;1134	Q96PE1-2;Q96PE1	.;GP124_HUMAN	Y	917;1134	ENSP00000323508:C917Y;ENSP00000406367:C1134Y	ENSP00000323508:C917Y	C	+	2	0	GPR124	37818415	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.399000	0.79935	2.203000	0.70933	0.484000	0.47621	TGC			0.751	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343331.2				A	37699257	G	A	37699257	3	1	75	1	0	0	0	0	1	0	0	0	6652	1319	46	2	3454	2	GPR124	8	37699257	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10		37699257	108664765	20	5360											
SLC2A8	29988	mdanderson.org	37	chr9	130160366	130160366	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaccggcctggcctgCggtgttgcctccctagtggc	2	10	12	17	2	1	0	1	0	0	0	3	0	3	0	6	4	2	1	6	4	1	2			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr9:130160366C>T	ENST00000373371.3	+	3	491	c.402C>T	c.(400-402)tgC>tgT	p.C134C	SLC2A8_ENST00000373360.3_Silent_p.C134C|SLC2A8_ENST00000373352.1_Intron	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	134					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GCCTGGCCTGCGGTGTTGCCT	0.701																																					p.C134C													.	.			0			c.C402T												8	10	9					9																	130160366		2148	4231	6379	SO:0001819	synonymous_variant	29988	exon3			GGCCTGCGGTGTT	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.402C>T	9.37:g.130160366C>T			18	0	0		15	0.2	3	NM_014580	22	0	0	Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	CCDS6870.1																																																																																					0.701	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054177.1		NM_014580		T	130160366	C	T	130160366	2	4	75	1	0	0	0	0	0	0	0	1	14574	776	27	1		1	SLC2A8	9	130160366	Silent	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10		130160366	11053065	21	5361											
ITIH5	80760	mdanderson.org	37	chr10	7618459	7618459	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctctgcaccaccggttcGggtcccatggcagccgacat	7	7	11	16	4	1	0	0	0	1	0	3	1	2	0	4	3	2	4	4	3	0	1	rs376071464		TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr10:7618459G>T	ENST00000256861.6	-	10	2013	c.1935C>A	c.(1933-1935)ccC>ccA	p.P645P	ITIH5_ENST00000397146.2_Silent_p.P645P|ITIH5_ENST00000446830.2_Silent_p.P427P|ITIH5_ENST00000397145.2_Silent_p.P645P|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.P431P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	645					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCACCGGTTCGGGTCCCATGG	0.677																																					p.P645P													.	.			0			c.C1935A												20	21	21					10																	7618459		2200	4295	6495	SO:0001819	synonymous_variant	80760	exon10			CGGTTCGGGTCCC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1935C>A	10.37:g.7618459G>T			29	0	0		18	0.17	3	NM_001001851	13	0	0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37																																																																																						0.677	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000046688.1		NM_030569		T	7618459	G	T	7618459	2	4	75	1	0	0	0	0	0	0	0	1	7922	1103	39	1		1	ITIH5	10	7618459	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10		7618459	127916288	22	5362											
EIF3A	8661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	120820788	120820788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaattctacttcaagccaaTtgtaaaggtctttcacttct	12	16	4	9	0	5	0	2	0	3	0	5	0	5	0	1	1	2	1	1	1	7	8			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr10:120820788T>C	ENST00000369144.3	-	8	1302	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.N358S	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)		TTCAAGCCAATTGTAAAGGTC	0.368																																					p.N392S													.	.			0			c.A1175G												75	71	72					10																	120820788		2202	4300	6502	SO:0001583	missense	8661	exon8			AGCCAATTGTAAA	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.1175A>G	10.37:g.120820788T>C	ENSP00000358140:p.Asn392Ser		150	0	0		100	0.31	31	NM_003750	53	0.51	27	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.329330	0.41197	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.23950	1.89;1.88	6.08	6.08	0.98989	Proteasome component (PCI) domain (1);	0.000000	0.41712	D	0.000838	T	0.43722	0.1260	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.10636	-1.0621	10	0.21014	T	0.42	-34.1009	16.6512	0.85203	0.0:0.0:0.0:1.0	.	392	Q14152	EIF3A_HUMAN	S	392;358	ENSP00000358140:N392S;ENSP00000438178:N358S	ENSP00000358140:N392S	N	-	2	0	EIF3A	120810778	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	6.175000	0.71949	2.333000	0.79357	0.482000	0.46254	AAT			0.368	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050634.1		NM_003750		C	120820788	T	C	120820788	3	2	75	1	0	0	0	0	1	0	0	0	5017	1493	52	4	3033	4	EIF3A	10	120820788	Missense_Mutation	SNP	T	TCGA-2G-AALY-01A-11D-A42Y-10	113202329	120820788	14713959	23	5363											
MUC2	4583	mdanderson.org	37	chr11	1093434	1093434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccatcaccaccaccacCacggtgaccccaaccccgac	12	2	4	23	2	1	1	1	1	0	0	1	2	1	1	9	1	1	0	9	1	1	0	rs12786901		TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr11:1093434C>T	ENST00000441003.2	+	30	5280	c.5253C>T	c.(5251-5253)acC>acT	p.T1751T	MUC2_ENST00000359061.5_Silent_p.T1718T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T39T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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)	ccaccaccaccacggtgaccc	0.642																																					p.T1751T													.	.			0			c.C5253T							T		10,4082		0,10,2036	196	223	214		5250	-3.5	0	11	dbSNP_121	214	15,8043		0,15,4014	no	coding-synonymous	MUC2	NM_002457.2		0,25,6050	TT,TC,CC		0.1862,0.2444,0.2058		1750/2813	1093434	25,12125	2046	4029	6075	SO:0001819	synonymous_variant	4583	exon30			CACCACCACGGTG	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.5253C>T	11.37:g.1093434C>T			30	0.0333333333	1		24	0.08	2	NM_002457	0		0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1093434	C	T	1093434	2	4	75	1	0	0	0	0	0	0	0	1	9991	581	21	3		3	MUC2	11	1093434	Silent	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10		1093434	133913082	24	5364											
BSCL2	26580	mdanderson.org	37	chr11	62473086	62473086	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgggatgcagcagctggtgGttcctggaaagagagggtga	10	8	18	5	0	0	2	0	1	0	1	1	5	1	4	1	5	3	4	1	5	1	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr11:62473086G>T	ENST00000403550.1	-	0	322				BSCL2_ENST00000278893.7_5'UTR|GNG3_ENST00000294117.5_5'Flank|BSCL2_ENST00000433053.1_Missense_Mutation_p.P31T|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.P31T|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.P31T|BSCL2_ENST00000421906.1_5'UTR|BSCL2_ENST00000407022.3_5'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)						cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GCAGCTGGTGGTTCCTGGAAA	0.602																																					p.P31T													.	.			0			c.C91A												10	13	12					11																	62473086		692	1590	2282	SO:0001623	5_prime_UTR_variant	26580	exon2			CTGGTGGTTCCTG		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.-102C>A	11.37:g.62473086G>T			31	0	0		36	0.08	3	NM_001122955	69	0	0	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924376	0.34002	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000360796;ENST00000524862;ENST00000532818;ENST00000464544	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-1.71	5.08	3.15	0.36227	.	.	.	.	.	D	0.82536	0.5058	L	0.32530	0.975	0.34942	D	0.750391	B	0.25563	0.129	B	0.23419	0.046	T	0.82161	-0.0594	9	0.87932	D	0	.	10.1979	0.43065	0.0:0.0:0.6372:0.3628	.	31	G3XAE4	.	T	31	ENSP00000385332:P31T;ENSP00000414002:P31T;ENSP00000354032:P31T;ENSP00000433888:P31T	ENSP00000301781:P31T	P	-	1	0	BSCL2	62229662	1.000000	0.71417	0.967000	0.41034	0.088000	0.18126	5.463000	0.66712	0.691000	0.31592	-0.311000	0.09066	CCA			0.602	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000319185.1		NM_032667		T	62473086	G	T	62473086	1	4	75	0	1	0	0	0	0	0	0	0	1529	1261	44	3		3	BSCL2	11	62473086	5'UTR	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	61379652	62473086	72533430	25	5365											
ANO1	55107	mdanderson.org	37	chr11	69972215	69972215	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttcgcctggctgggcgtGtacacccagatgctcatccc	6	10	10	15	2	1	1	1	0	0	1	3	1	2	1	3	2	3	3	3	2	2	3			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr11:69972215G>T	ENST00000355303.5	+	10	1316	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V	ANO1_ENST00000531349.1_Silent_p.V72V|ANO1_ENST00000538023.1_Silent_p.V337V|ANO1_ENST00000530676.1_Silent_p.V221V|ANO1_ENST00000398543.2_Silent_p.V221V|ANO1_ENST00000316296.5_Silent_p.V309V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	337					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)	GGCTGGGCGTGTACACCCAGA	0.557																																					p.V337V													.	.			0			c.G1011T												115	121	119					11																	69972215		2076	4211	6287	SO:0001819	synonymous_variant	55107	exon10			GGGCGTGTACACC	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.1011G>T	11.37:g.69972215G>T			79	0	0		71	0.06	4	NM_018043	4	0	0	A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354621	0.24512	.	.	ENSG00000131620	ENST00000530480	.	.	.	5.04	-4.77	0.03219	.	.	.	.	.	T	0.47619	0.1455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48175	-0.9058	4	.	.	.	.	6.1277	0.20187	0.1445:0.5059:0.2416:0.108	.	.	.	.	F	202	.	.	C	+	2	0	ANO1	69649863	0.011000	0.17503	0.891000	0.34965	0.996000	0.88848	-1.630000	0.02028	-0.493000	0.06678	0.462000	0.41574	TGT			0.557	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000393685.1		NM_018043		T	69972215	G	T	69972215	2	4	75	1	0	0	0	0	0	0	0	1	695	1364	48	3		3	ANO1	11	69972215	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	7499129	69972215	65034301	26	5366											
DYNC2H1	79659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	103093789	103093789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacgaattcatcctttGgaaactgaacaggcaggatt	13	11	10	7	1	1	1	1	1	0	0	2	5	2	4	1	4	3	1	1	4	4	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr11:103093789G>A	ENST00000375735.2	+	59	9471	c.9327G>A	c.(9325-9327)ttG>ttA	p.L3109L	DYNC2H1_ENST00000398093.3_Silent_p.L3109L|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	3109	Stalk. {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)		TTCATCCTTTGGAAACTGAAC	0.363																																					p.L3109L													.	.			0			c.G9327A												63	57	59					11																	103093789		1839	4094	5933	SO:0001819	synonymous_variant	79659	exon59			TCCTTTGGAAACT	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.9327G>A	11.37:g.103093789G>A			57	0	0		26	0.65	17	NM_001377	1	1	1	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																					0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387196.1		XM_370652		A	103093789	G	A	103093789	2	1	75	1	0	0	0	0	0	0	0	1	4851	1339	47	3		3	DYNC2H1	11	103093789	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	33121574	103093789	31912727	27	5367											
PDE1B	5153	mdanderson.org	37	chr12	54960850	54960850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagcttctctgctggaagCcgtctacatagatgagacac	11	9	9	12	1	2	2	0	1	2	2	3	4	2	3	1	1	4	2	1	1	3	3			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr12:54960850C>T	ENST00000243052.3	+	3	642	c.206C>T	c.(205-207)gCc>gTc	p.A69V	PDE1B_ENST00000538346.1_Missense_Mutation_p.A28V|PDE1B_ENST00000550620.1_Missense_Mutation_p.A49V|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	69					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|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)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	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)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTGCTGGAAGCCGTCTACATA	0.483																																					p.A69V													.	.			0			c.C206T												86	84	85					12																	54960850		2203	4300	6503	SO:0001583	missense	5153	exon3			TGGAAGCCGTCTA	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.206C>T	12.37:g.54960850C>T	ENSP00000243052:p.Ala69Val		32	0	0		39	0.08	3	NM_000924	1	0	0	Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215917	0.79352	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70516	-0.49;-0.46;-0.47	4.08	4.08	0.47627	.	0.134805	0.47455	D	0.000223	T	0.75635	0.3876	L	0.52905	1.665	0.46631	D	0.999138	D;P	0.54964	0.969;0.948	P;P	0.54544	0.755;0.627	T	0.78838	-0.2046	10	0.72032	D	0.01	.	14.5926	0.68378	0.0:1.0:0.0:0.0	.	49;69	Q01064-2;Q01064	.;PDE1B_HUMAN	V	69;28;49	ENSP00000243052:A69V;ENSP00000442559:A28V;ENSP00000448519:A49V	ENSP00000243052:A69V	A	+	2	0	PDE1B	53247117	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.639000	0.67868	2.560000	0.86352	0.561000	0.74099	GCC			0.483	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406203.1				T	54960850	C	T	54960850	3	4	75	1	0	0	0	0	1	0	0	0	11651	739	26	2	269	2	PDE1B	12	54960850	Missense_Mutation	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10		54960850	78891045	28	5368											
LHX5	64211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	113906210	113906210	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtccgtacaggatgacaCtgcgggcggacggatcggga	8	5	18	10	6	0	1	0	1	0	0	2	5	1	5	1	6	2	1	1	6	1	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr12:113906210C>T	ENST00000261731.3	-	3	971		c.e3-1			NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5						cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CAGGATGACACTGCGGGCGGA	0.672																																					.													.	.			0			c.398-1G>A												66	53	57					12																	113906210		2202	4300	6502	SO:0001630	splice_region_variant	64211	exon4			ATGACACTGCGGG	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.398-1G>A	12.37:g.113906210C>T			76	0	0		75	0.41	31	NM_022363	0		0	Q32MA4	Splice_Site	SNP	ENST00000261731.3	37	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445769	0.84101	.	.	ENSG00000089116	ENST00000261731	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9696	0.89110	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LHX5	112390593	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.782000	0.85680	2.213000	0.71641	0.491000	0.48974	.			0.672	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404788.3		NM_022363	Intron	T	113906210	C	T	113906210	5	4	75	1	0	0	0	0	0	0	1	0	8789	579	20	3	823	3	LHX5	12	113906210	Splice_Site	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10	58945360	113906210	19945685	29	5369											
AACS	65985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	125626747	125626747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagaccctggatctgtaccGggacatccctgagctgcagg	8	7	13	13	2	1	2	0	1	1	1	2	5	2	4	3	3	3	3	3	3	1	1	rs146784734		TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr12:125626747G>A	ENST00000316519.6	+	18	2197	c.1991G>A	c.(1990-1992)cGg>cAg	p.R664Q	AACS_ENST00000545511.1_Missense_Mutation_p.R176Q|AACS_ENST00000261686.6_Silent_p.P596P|AACS_ENST00000316543.10_Missense_Mutation_p.R262Q|AACS_ENST00000543665.1_Missense_Mutation_p.R96Q	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	664					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)		GATCTGTACCGGGACATCCCT	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		19835	0		0	False		,,,				2504	0				p.R664Q													.	.			0			c.G1991A							G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	91	80	84		1991	1.2	0.8	12	dbSNP_134	84	0,8600		0,0,4300	no	missense	AACS	NM_023928.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	664/673	125626747	2,13004	2203	4300	6503	SO:0001583	missense	65985	exon18			TGTACCGGGACAT	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.1991G>A	12.37:g.125626747G>A	ENSP00000324842:p.Arg664Gln		95	0	0		101	0.22	22	NM_023928	104	0.32	33	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.34	3.365384	0.61513	4.54E-4	0.0	ENSG00000081760	ENST00000316519;ENST00000316543;ENST00000545511;ENST00000543665	T;T	0.30981	3.91;1.51	4.65	1.23	0.21249	.	0.375179	0.30227	N	0.010113	T	0.20129	0.0484	L	0.28556	0.865	0.80722	D	1	B	0.15473	0.013	B	0.04013	0.001	T	0.06285	-1.0835	10	0.35671	T	0.21	.	10.4319	0.44413	0.343:0.0:0.657:0.0	.	664	Q86V21	AACS_HUMAN	Q	664;262;176;96	ENSP00000324842:R664Q;ENSP00000324929:R262Q	ENSP00000324842:R664Q	R	+	2	0	AACS	124192700	0.963000	0.33076	0.792000	0.32020	0.720000	0.41350	0.711000	0.25764	0.504000	0.28082	-0.258000	0.10820	CGG	0		0.542	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400202.1		NM_023928		A	125626747	G	A	125626747	3	1	75	1	0	0	0	0	1	0	0	0	9	1116	39	1	2061	1	AACS	12	125626747	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	11720537	125626747	8225148	30	5370											
DDX51	317781	mdanderson.org	37	chr12	132626108	132626108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtccaccaggcggccggGggtggctaccacgatgtcag	6	6	17	12	3	1	0	1	0	0	0	2	1	2	0	4	6	1	1	4	6	1	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr12:132626108G>T	ENST00000397333.3	-	7	1077	c.1039C>A	c.(1039-1041)Ccc>Acc	p.P347T	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	347	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)		AGGCGGCCGGGGGTGGCTACC	0.632																																					p.P347T													DDX51,NS,carcinoma,0,1	DDX51	0	1	0			c.C1039A												39	51	47					12																	132626108		2052	4198	6250	SO:0001583	missense	317781	exon7			GGCCGGGGGTGGC	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.1039C>A	12.37:g.132626108G>T	ENSP00000380495:p.Pro347Thr		13	0	0		14	0.14	2	NM_175066	56	0	0	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683346	0.88542	.	.	ENSG00000185163	ENST00000397333	T	0.07021	3.23	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	0.30665	0.0772	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04140	-1.0974	10	0.87932	D	0	-10.4177	15.7485	0.77965	0.0:0.0:1.0:0.0	.	347	Q8N8A6	DDX51_HUMAN	T	347	ENSP00000380495:P347T	ENSP00000380495:P347T	P	-	1	0	DDX51	131192061	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	8.916000	0.92745	2.312000	0.78011	0.591000	0.81541	CCC			0.632	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398978.1		NM_175066		T	132626108	G	T	132626108	3	4	75	1	0	0	0	0	1	0	0	0	4371	1232	43	3	997	3	DDX51	12	132626108	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	6999361	132626108	1225787	31	5371											
LMO7	4008	mdanderson.org	37	chr13	76427264	76427264	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctggactccccccgatcCaattcttggagacagcctcc	9	8	7	17	1	1	1	0	0	1	1	4	4	4	2	7	2	2	0	7	2	2	2			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr13:76427264C>T	ENST00000321797.8	+	26	4423	c.3702C>T	c.(3700-3702)tcC>tcT	p.S1234S	LMO7_ENST00000377534.3_Silent_p.S1519S|LMO7_ENST00000341547.4_Silent_p.S1185S|LMO7_ENST00000465261.2_Silent_p.S1234S|LMO7_ENST00000526202.1_Silent_p.S1111S|LMO7_ENST00000357063.3_Silent_p.S1519S			Q8WWI1	LMO7_HUMAN	LIM domain 7	1519					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCCCCGATCCAATTCTTGGA	0.443																																					p.S1234S													.	.			0			c.C3702T												87	87	87					13																	76427264		2203	4300	6503	SO:0001819	synonymous_variant	4008	exon25			CCGATCCAATTCT	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3702C>T	13.37:g.76427264C>T			39	0	0		42	0.07	3	NM_015842	32	0	0	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37																																																																																						0.443	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000045301.3		NM_005358		T	76427264	C	T	76427264	2	4	75	1	0	0	0	0	0	0	0	1	8870	581	21	3		3	LMO7	13	76427264	Silent	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10		76427264	38742614	32	5372											
IPO5	3843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	98667828	98667828	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttaataatgaacacttTgaagaactgggaggtatatt	14	13	9	5	0	0	3	0	2	0	1	0	4	0	4	1	2	3	1	1	2	7	6			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr13:98667828T>C	ENST00000490680.1	+	20	2435	c.2370T>C	c.(2368-2370)ttT>ttC	p.F790F	IPO5_ENST00000261574.5_Silent_p.F808F|IPO5_ENST00000539640.1_Silent_p.F665F			O00410	IPO5_HUMAN	importin 5	790					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGAACACTTTGAAGAACTGG	0.343																																					p.F808F													.	.			0			c.T2424C												106	105	105					13																	98667828		2203	4300	6503	SO:0001819	synonymous_variant	3843	exon23			ACACTTTGAAGAA	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2370T>C	13.37:g.98667828T>C			85	0	0		48	0.23	11	NM_002271	136	0.46	63	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	T	9.901	1.206788	0.22205	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.72	3.25	0.37280	.	.	.	.	.	T	0.60958	0.2309	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55224	-0.8174	4	.	.	.	-13.3205	10.5036	0.44821	0.0:0.1198:0.0:0.8802	.	.	.	.	S	792	.	.	L	+	2	0	IPO5	97465829	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.534000	0.36051	0.421000	0.25980	0.533000	0.62120	TTG			0.343	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000354655.1		NM_002271		C	98667828	T	C	98667828	2	2	75	1	0	0	0	0	0	0	0	1	7811	1809	63	4		4	IPO5	13	98667828	Silent	SNP	T	TCGA-2G-AALY-01A-11D-A42Y-10	22240564	98667828	16502050	33	5373											
ZNF828	283489	mdanderson.org	37	chr13	115091687	115091687	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttaactcattgtcaaagccgGcataatgaagaggcaaataa	17	9	8	7	1	2	2	2	1	0	1	2	2	2	2	1	2	2	2	1	2	6	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr13:115091687G>T	ENST00000361283.1	+	3	2679	c.2370G>T	c.(2368-2370)cgG>cgT	p.R790R		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	790	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GTCAAAGCCGGCATAATGAAG	0.378																																					p.R790R													.	.			0			c.G2370T												43	42	43					13																	115091687		2203	4300	6503	SO:0001819	synonymous_variant	283489	exon3			AAGCCGGCATAAT	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.2370G>T	13.37:g.115091687G>T			65	0	0		45	0.11	5	NM_032436	32	0	0	B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	CCDS9545.1																																																																																					0.378	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045977.2		NM_032436		T	115091687	G	T	115091687	2	4	75	1	0	0	0	0	0	0	0	1	18204	1190	42	2		2	ZNF828	13	115091687	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	16423859	115091687	78191	34	5374											
METTL3	56339	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	21967677	21967677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaccagtgacctgtacGgcctgtccgaatgatgcgtt	8	11	11	11	3	1	2	1	2	0	0	2	3	2	2	4	1	3	3	4	1	3	3			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr14:21967677G>A	ENST00000298717.4	-	8	1562	c.1411C>T	c.(1411-1413)Cgt>Tgt	p.R471C		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	471					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TGACCTGTACGGCCTGTCCGA	0.448																																					p.R471C													METTL3,NS,malignant_melanoma,+1,2	METTL3	48	2	0			c.C1411T												167	158	161					14																	21967677		2203	4300	6503	SO:0001583	missense	56339	exon8			CTGTACGGCCTGT	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1411C>T	14.37:g.21967677G>A	ENSP00000298717:p.Arg471Cys		177	0	0		204	0.03	7	NM_019852	112	0	0	O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756435	0.69648	.	.	ENSG00000165819	ENST00000298717	T	0.43688	0.94	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83496	0.0072	10	0.87932	D	0	-9.3172	17.016	0.86419	0.0:0.0:1.0:0.0	.	471	Q86U44	MTA70_HUMAN	C	471	ENSP00000298717:R471C	ENSP00000298717:R471C	R	-	1	0	METTL3	21037517	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.201000	0.65163	2.559000	0.86315	0.460000	0.39030	CGT			0.448	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401227.1		NM_019852		A	21967677	G	A	21967677	3	1	75	1	0	0	0	0	1	0	0	0	9517	1116	39	1	347	1	METTL3	14	21967677	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10		21967677	85381863	35	5375											
FUT8	2530	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	66209100	66209100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagatagaaacggtcaagtAccccacatatcctgaggctg	14	7	10	10	1	1	3	1	1	0	2	2	4	2	3	3	2	2	2	3	2	6	3			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr14:66209100A>G	ENST00000360689.5	+	11	3427	c.1700A>G	c.(1699-1701)tAc>tGc	p.Y567C	FUT8_ENST00000557164.1_Missense_Mutation_p.Y404C|FUT8_ENST00000394586.2_Missense_Mutation_p.Y567C|FUT8_ENST00000394585.1_Missense_Mutation_p.Y567C|FUT8_ENST00000358307.2_Missense_Mutation_p.Y438C|FUT8_ENST00000417683.1_Missense_Mutation_p.Y161C	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	567					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACGGTCAAGTACCCCACATAT	0.438																																					p.Y567C													.	.			0			c.A1700G												35	36	35					14																	66209100		2202	4299	6501	SO:0001583	missense	2530	exon11			TCAAGTACCCCAC	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1700A>G	14.37:g.66209100A>G	ENSP00000353910:p.Tyr567Cys		78	0	0		72	0.29	21	NM_178155	74	0.28	21	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130902	0.77549	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.59906	1.98;1.98;1.98;1.98;1.98;0.23	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.91635	0.901;0.955;0.999	T	0.73257	-0.4040	10	0.72032	D	0.01	-9.8411	14.1792	0.65562	1.0:0.0:0.0:0.0	.	161;438;567	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	C	567;567;404;567;438;161	ENSP00000353910:Y567C;ENSP00000378087:Y567C;ENSP00000452433:Y404C;ENSP00000378086:Y567C;ENSP00000351057:Y438C;ENSP00000396770:Y161C	ENSP00000351057:Y438C	Y	+	2	0	FUT8	65278853	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.339000	0.96797	2.234000	0.73211	0.460000	0.39030	TAC			0.438	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286406.1		NM_004480		G	66209100	A	G	66209100	3	3	75	1	0	0	0	0	1	0	0	0	6123	391	14	4	1833	4	FUT8	14	66209100	Missense_Mutation	SNP	A	TCGA-2G-AALY-01A-11D-A42Y-10	44241423	66209100	41140440	36	5376											
PTGR2	145482	mdanderson.org	37	chr14	74350831	74350831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagtccatgatgacaggagGtaacattggaaagcagatag	15	7	12	7	0	0	3	0	2	0	1	1	5	1	5	2	3	2	2	2	3	3	3			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr14:74350831G>T	ENST00000555661.1	+	10	1152	c.1007G>T	c.(1006-1008)gGt>gTt	p.G336V	ZNF410_ENST00000324593.6_5'Flank|PTGR2_ENST00000267568.4_Missense_Mutation_p.G336V|ZNF410_ENST00000540593.1_5'Flank|ZNF410_ENST00000442160.3_5'Flank|PTGR2_ENST00000555228.1_Missense_Mutation_p.G336V|RP5-1021I20.4_ENST00000556551.2_Splice_Site|PTGR2_ENST00000553813.1_Missense_Mutation_p.G202V|ZNF410_ENST00000555044.1_5'Flank			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	336					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)	ATGACAGGAGGTAACATTGGA	0.343																																					p.G336V	Esophageal Squamous(98;1155 1417 16452 47043 47872)												.	.			0			c.G1007T												125	109	115					14																	74350831		2203	4298	6501	SO:0001583	missense	145482	exon10			CAGGAGGTAACAT	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.1007G>T	14.37:g.74350831G>T	ENSP00000452280:p.Gly336Val		30	0	0		36	0.08	3	NM_152444	11	0	0	Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005213	0.93287	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000553813	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.7	5.7	0.88788	GroES-like (1);	0.096992	0.64402	D	0.000001	D	0.86130	0.5859	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.63703	0.917	D	0.86114	0.1564	10	0.52906	T	0.07	-8.3741	19.8405	0.96681	0.0:0.0:1.0:0.0	.	336	Q8N8N7	PTGR2_HUMAN	V	336;336;336;202	ENSP00000450975:G336V;ENSP00000452280:G336V;ENSP00000267568:G336V;ENSP00000450824:G202V	ENSP00000267568:G336V	G	+	2	0	RP5-1021I20.4;PTGR2	73420584	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.083000	0.94067	2.692000	0.91855	0.655000	0.94253	GGT			0.343	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412575.1				T	74350831	G	T	74350831	3	4	75	1	0	0	0	0	1	0	0	0	12775	1261	44	3	1041	3	PTGR2	14	74350831	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	8141731	74350831	32998709	37	5377											
SLC25A29	123096	mdanderson.org	37	chr14	100758759	100758759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcagcgttgacggggaagGcgcgcagcagcgtggacgcc	7	4	19	11	6	0	1	0	1	0	0	0	3	0	3	1	5	3	4	1	5	1	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr14:100758759G>T	ENST00000359232.3	-	4	1073	c.773C>A	c.(772-774)gCc>gAc	p.A258D	SLC25A29_ENST00000392908.3_3'UTR|AL157871.2_ENST00000553954.1_RNA|SLC25A29_ENST00000539621.1_Missense_Mutation_p.A192D|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000554912.1_Missense_Mutation_p.A192D|SLC25A29_ENST00000555927.1_Missense_Mutation_p.A192D|SLC25A29_ENST00000556505.1_Missense_Mutation_p.A192D	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	258						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GACGGGGAAGGCGCGCAGCAG	0.756																																					p.A258D													.	.			0			c.C773A												8	11	10					14																	100758759		2127	4175	6302	SO:0001583	missense	123096	exon4			GGGAAGGCGCGCA	AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"Solute carriers"	20116	protein-coding gene	gene with protein product		615064	"chromosome 14 open reading frame 69", "solute carrier family 25, member 29"	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.773C>A	14.37:g.100758759G>T	ENSP00000352167:p.Ala258Asp		8	0	0		18	0.11	2	NM_001039355	32	0	0	A3KMR5|Q541V0	Missense_Mutation	SNP	ENST00000359232.3	37	CCDS32156.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343404	0.95783	.	.	ENSG00000197119	ENST00000359232;ENST00000554912;ENST00000539621;ENST00000556505;ENST00000555927	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89726	0.6798	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90191	0.4250	10	0.87932	D	0	-41.3651	19.6706	0.95910	0.0:0.0:1.0:0.0	.	258	Q8N8R3	MCATL_HUMAN	D	258;192;192;192;192	ENSP00000352167:A258D;ENSP00000450913:A192D;ENSP00000442985:A192D;ENSP00000452446:A192D;ENSP00000452078:A192D	ENSP00000352167:A258D	A	-	2	0	SLC25A29	99828512	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.385000	0.97223	2.645000	0.89757	0.655000	0.94253	GCC			0.756	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000072449.3				T	100758759	G	T	100758759	3	4	75	1	0	0	0	0	1	0	0	0	14515	1203	42	2	142	2	SLC25A29	14	100758759	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	26407928	100758759	6590781	38	5378											
PDCD7	10081	mdanderson.org	37	chr15	65426076	65426076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggcggctgcgggggcGgtgggcctgggcgaccctgg	2	4	24	11	5	0	0	0	0	0	0	0	2	0	0	2	9	1	1	2	9	0	0			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr15:65426076G>A	ENST00000204549.4	-	1	98	c.44C>T	c.(43-45)cCg>cTg	p.P15L		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	15	Pro-rich.				apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTGCGGGGGCGGTGGGCCTGG	0.682																																					p.P15L													.	.			0			c.C44T												4	5	5					15																	65426076		1913	3966	5879	SO:0001583	missense	10081	exon1			GGGGGCGGTGGGC	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"U11/U12 snRNP 59K"	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.44C>T	15.37:g.65426076G>A	ENSP00000204549:p.Pro15Leu		35	0	0		34	0.09	3	NM_005707	7	0	0	Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	G	4.842	0.156514	0.09236	.	.	ENSG00000090470	ENST00000204549	.	.	.	4.39	3.47	0.39725	.	0.080109	0.49305	D	0.000152	T	0.29684	0.0741	N	0.08118	0	0.44030	D	0.996755	B	0.06786	0.001	B	0.06405	0.002	T	0.09952	-1.0651	9	0.87932	D	0	-5.817	7.3315	0.26586	0.2053:0.0:0.7947:0.0	.	15	Q8N8D1	PDCD7_HUMAN	L	15	.	ENSP00000204549:P15L	P	-	2	0	PDCD7	63213129	0.992000	0.36948	1.000000	0.80357	0.836000	0.47400	2.067000	0.41461	0.962000	0.38057	-0.424000	0.05967	CCG			0.682	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256784.2		NM_005707		A	65426076	G	A	65426076	3	1	75	1	0	0	0	0	1	0	0	0	11642	1116	39	1	1433	1	PDCD7	15	65426076	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10		65426076	37105316	39	5379											
TMEM8A	58986	broad.mit.edu;mdanderson.org	37	chr16	426323	426323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgaggcagaaggggctgCggtccaccctgccactcctg	6	8	14	13	1	0	2	0	1	0	1	2	2	2	2	4	4	2	2	4	4	1	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr16:426323C>T	ENST00000431232.2	-	6	1197	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.R153H	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	346					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GAAGGGGCTGCGGTCCACCCT	0.637																																					p.R346H													.	TMEM8A	49		0			c.G1037A												63	50	55					16																	426323		2201	4299	6500	SO:0001583	missense	58986	exon6			GGGCTGCGGTCCA	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1037G>A	16.37:g.426323C>T	ENSP00000401338:p.Arg346His		39	0	0		35	0.09	3	NM_021259	94	0	0	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663987	0.29604	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.30714	1.94;1.52	4.45	3.5	0.40072	.	1.734660	0.02779	N	0.120632	T	0.19287	0.0463	N	0.14661	0.345	0.09310	N	1	B	0.34161	0.439	B	0.22880	0.042	T	0.19582	-1.0301	10	0.42905	T	0.14	0.1324	8.2246	0.31562	0.0:0.7954:0.0:0.2046	.	346	Q9HCN3	TMM8A_HUMAN	H	346;153	ENSP00000401338:R346H;ENSP00000250930:R153H	ENSP00000250930:R153H	R	-	2	0	TMEM8A	366324	0.000000	0.05858	0.022000	0.16811	0.015000	0.08874	-0.274000	0.08537	1.095000	0.41419	0.655000	0.94253	CGC			0.637	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000109257.2		NM_021259		T	426323	C	T	426323	3	4	75	1	0	0	0	0	1	0	0	0	16237	768	27	1	1310	1	TMEM8A	16	426323	Missense_Mutation	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10		426323	89928430	40	5380											
ZNF423	23090	mdanderson.org	37	chr16	49670885	49670885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggagtcgaagacctcCtgacacagggtgcagtggta	10	8	13	10	1	0	2	0	1	0	1	2	4	1	3	3	3	1	2	3	3	2	2			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr16:49670885C>A	ENST00000561648.1	-	4	2231	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H	ZNF423_ENST00000567169.1_Missense_Mutation_p.Q609H|ZNF423_ENST00000562520.1_Missense_Mutation_p.Q666H|ZNF423_ENST00000563137.2_Missense_Mutation_p.Q666H|ZNF423_ENST00000535559.1_Missense_Mutation_p.Q609H|ZNF423_ENST00000262383.2_Missense_Mutation_p.Q726H|ZNF423_ENST00000562871.1_Missense_Mutation_p.Q666H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	726					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGAAGACCTCCTGACACAGGG	0.562																																					p.Q726H													.	.			0			c.G2178T												102	96	98					16																	49670885		2198	4300	6498	SO:0001583	missense	23090	exon4			GACCTCCTGACAC	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2178G>T	16.37:g.49670885C>A	ENSP00000455426:p.Gln726His		43	0	0		34	0.09	3	NM_015069	22	0	0	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259288	0.39995	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.28255	1.62;1.62	5.05	3.88	0.44766	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.12663	0.25	0.42048	D	0.991102	D	0.76494	0.999	D	0.91635	0.999	T	0.06552	-1.0820	9	.	.	.	-30.2326	5.8709	0.18802	0.0:0.705:0.0:0.295	.	726	Q2M1K9	ZN423_HUMAN	H	726;609	ENSP00000262383:Q726H;ENSP00000442321:Q609H	.	Q	-	3	2	ZNF423	48228386	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.625000	0.46452	2.352000	0.79861	0.561000	0.74099	CAG			0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000423258.1		NM_015069		A	49670885	C	A	49670885	3	1	75	1	0	0	0	0	1	0	0	0	17921	680	24	3	1696	3	ZNF423	16	49670885	Missense_Mutation	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10	49244562	49670885	40683868	41	5381											
ZFHX3	463	mdanderson.org	37	chr16	72993363	72993363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacacgcggaagctgtgcaGgacggggctgagccccgcca	10	3	15	13	4	0	1	0	1	0	0	0	3	0	3	3	4	4	3	3	4	2	0			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr16:72993363G>T	ENST00000268489.5	-	2	1354	c.682C>A	c.(682-684)Ctg>Atg	p.L228M	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	228					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)				AAGCTGTGCAGGACGGGGCTG	0.552																																					p.L228M													.	.			0			c.C682A												114	108	110					16																	72993363		2198	4300	6498	SO:0001583	missense	463	exon2			TGTGCAGGACGGG	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.682C>A	16.37:g.72993363G>T	ENSP00000268489:p.Leu228Met		114	0	0		94	0.05	5	NM_006885	0		0	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	8.695	0.908405	0.17833	.	.	ENSG00000140836	ENST00000268489	T	0.77358	-1.09	4.7	4.7	0.59300	.	0.000000	0.39341	N	0.001396	T	0.80529	0.4640	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77619	-0.2520	10	0.29301	T	0.29	.	12.4741	0.55803	0.081:0.0:0.919:0.0	.	228	Q15911	ZFHX3_HUMAN	M	228	ENSP00000268489:L228M	ENSP00000268489:L228M	L	-	1	2	ZFHX3	71550864	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	5.629000	0.67798	2.331000	0.79229	0.561000	0.74099	CTG			0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269008.1		NM_006885		T	72993363	G	T	72993363	3	4	75	1	0	0	0	0	1	0	0	0	17657	991	35	3	10465	3	ZFHX3	16	72993363	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	23322478	72993363	17361390	42	5382											
FLII	2314	mdanderson.org	37	chr17	18154278	18154278	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcgagtgtggcctccccGccaatccagtagtagatctc	7	11	10	13	2	1	1	0	0	1	1	5	2	3	1	5	1	0	2	5	1	3	3	rs144125005	byFrequency	TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr17:18154278G>A	ENST00000327031.4	-	14	1875	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	FLII_ENST00000578558.1_Silent_p.G549G|FLII_ENST00000379450.4_Silent_p.G464G|FLII_ENST00000579294.1_Silent_p.G539G|FLII_ENST00000545457.2_Silent_p.G495G|FLII_ENST00000584444.1_5'Flank	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	550	Interaction with ACTL6A.				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)					TGGCCTCCCCGCCAATCCAGT	0.587													G|||	2	0.000399361	0.0015	0	5008	,	,		15373	0		0	False		,,,				2504	0				p.G550G													.	.			0			c.C1650T							G		4,4402	8.1+/-20.4	0,4,2199	73	73	73		1650	-5.8	0.8	17	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	FLII	NM_002018.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		550/1270	18154278	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2314	exon14			CTCCCCGCCAATC	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.1650C>T	17.37:g.18154278G>A			34	0	0		28	0.11	3	NM_002018	78	0	0	B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	CCDS11192.1																																																																																			0		0.587	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132032.2		NM_002018		A	18154278	G	A	18154278	2	1	75	1	0	0	0	0	0	0	0	1	5938	1074	38	1		1	FLII	17	18154278	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10		18154278	63040932	43	5383											
CCL5	6352	bcgsc.ca;mdanderson.org	37	chr17	34207264	34207264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcaggagcgcagagggCagtagcaatgaggatgacag	14	4	17	6	1	0	4	0	2	0	2	0	6	0	6	0	3	3	5	0	3	2	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr17:34207264C>T	ENST00000293272.3	-	1	248	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Missense_Mutation_p.A16T	NM_002985.2	NP_002976.2	P13501	CCL5_HUMAN	chemokine (C-C motif) ligand 5	16					activation of phospholipase D activity (GO:0031584)|calcium ion transport (GO:0006816)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular protein complex assembly (GO:0043623)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|eosinophil chemotaxis (GO:0048245)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of T cell apoptotic process (GO:0070233)|negative regulation of viral genome replication (GO:0045071)|neutrophil activation (GO:0042119)|positive chemotaxis (GO:0050918)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of innate immune response (GO:0045089)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell apoptotic process (GO:0070234)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of translational initiation (GO:0045948)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|positive regulation of viral genome replication (GO:0045070)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein tetramerization (GO:0051262)|regulation of chronic inflammatory response (GO:0002676)|regulation of insulin secretion (GO:0050796)|regulation of neuron death (GO:1901214)|regulation of T cell activation (GO:0050863)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR4 chemokine receptor binding (GO:0031729)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|chemokine receptor antagonist activity (GO:0046817)|chemokine receptor binding (GO:0042379)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase activator activity (GO:0016004)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|receptor signaling protein tyrosine kinase activator activity (GO:0030298)			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		GCGCAGAGGGCAGTAGCAATG	0.597																																					p.A16T													.	CCL5	6		0			c.G46A												136	103	114					17																	34207264		2203	4300	6503	SO:0001583	missense	6352	exon1			AGAGGGCAGTAGC	AF043341	CCDS11300.1	17q11.2-q12	2014-04-17	2002-08-22	2002-08-23	ENSG00000161570	ENSG00000271503		"Chemokine ligands", "Endogenous ligands"	10632	protein-coding gene	gene with protein product	"T-cell specific protein p288", "T-cell specific RANTES protein", "SIS-delta", "regulated upon activation, normally T-expressed, and presumably secreted", "beta-chemokine RANTES", "small inducible cytokine subfamily A (Cys-Cys), member 5"	187011	"small inducible cytokine A5 (RANTES)"	D17S136E, SCYA5		1691736	Standard	NM_002985		Approved	RANTES, SISd, TCP228, MGC17164	uc002hkf.3	P13501	OTTHUMG00000188396	ENST00000293272.3:c.46G>A	17.37:g.34207264C>T	ENSP00000293272:p.Ala16Thr		64	0	0		64	0.08	5	NM_002985	86	0	0	O43646|Q0QVW8|Q4ZGJ1|Q9NYA2|Q9UBG2|Q9UC99	Missense_Mutation	SNP	ENST00000293272.3	37	CCDS11300.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007271	0.35415	.	.	ENSG00000161570	ENST00000293272;ENST00000366113	T;T	0.02631	4.22;4.22	4.93	-2.01	0.07410	.	0.625195	0.15570	N	0.255472	T	0.02304	0.0071	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39941	-0.9589	9	0.49607	T	0.09	.	8.537	0.33368	0.0:0.4149:0.0:0.5851	.	16	P13501	CCL5_HUMAN	T	16	ENSP00000293272:A16T;ENSP00000375216:A16T	ENSP00000293272:A16T	A	-	1	0	CCL5	31231377	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.823000	0.04443	-0.168000	0.10853	-0.254000	0.11334	GCC			0.597	CCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256486.3		NM_002985		T	34207264	C	T	34207264	3	4	75	1	0	0	0	0	1	0	0	0	2907	710	25	2	241	2	CCL5	17	34207264	Missense_Mutation	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10	16052986	34207264	46987946	44	5384											
MAP3K14	9020	mdanderson.org	37	chr17	43351583	43351583	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcccggtcctctgggaGacagccctgctccttgacca	6	7	12	16	1	1	2	0	1	1	1	3	3	3	2	5	3	2	1	5	3	0	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr17:43351583G>T	ENST00000344686.2	-	0	1564							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCCTCTGGGAGACAGCCCTGC	0.627																																					.													.	.			0			.												27	29	29					17																	43351583		1918	4113	6031			9020	.			CTGGGAGACAGCC	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6853	protein-coding gene	gene with protein product	"serine/threonine protein-kinase"	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43351583G>T			38	0	0		39	0.08	3	.	3	0	0	A8K2D8|D3DX67|Q8IYN1	Missense_Mutation	SNP	ENST00000344686.2	37		.	.	.	.	.	.	.	.	.	.	G	18.30	3.593276	0.66219	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	6.04	6.04	0.98038	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.74207	0.3686	L	0.47190	1.495	0.30566	N	0.764035	D	0.56968	0.978	D	0.68765	0.96	T	0.73100	-0.4089	8	0.54805	T	0.06	.	17.7352	0.88390	0.0:0.0:1.0:0.0	.	487	Q99558	M3K14_HUMAN	I	486;270	.	ENSP00000342059:L486I	L	-	1	0	MAP3K14	40707366	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	4.591000	0.61019	2.873000	0.98535	0.561000	0.74099	CTC			0.627	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript				NM_003954		T	43351583	G	T	43351583	1	4	75	0	1	0	0	0	0	0	0	0	9264	942	33	3		3	MAP3K14	17	43351583	RNA	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	9144319	43351583	37843627	45	5385											
C17orf80	55028	mdanderson.org	37	chr17	71233050	71233050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggttaccttggactagggGtgttgccagggaagcctcag	7	10	15	9	0	1	0	1	0	0	0	1	2	1	2	3	5	3	2	3	5	3	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr17:71233050G>T	ENST00000535032.2	+	2	1542	c.1429G>T	c.(1429-1431)Gtg>Ttg	p.V477L	C17orf80_ENST00000255557.4_Missense_Mutation_p.V477L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.V477L|C17orf80_ENST00000426147.2_Missense_Mutation_p.V477L|FAM104A_ENST00000583178.1_5'Flank|C17orf80_ENST00000268942.8_Missense_Mutation_p.V477L|C17orf80_ENST00000359042.2_Missense_Mutation_p.V477L			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	477						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGACTAGGGGTGTTGCCAGG	0.522																																					p.V477L													.	.			0			c.G1429T												43	47	46					17																	71233050		2203	4300	6503	SO:0001583	missense	55028	exon3			CTAGGGGTGTTGC	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.1429G>T	17.37:g.71233050G>T	ENSP00000440551:p.Val477Leu		36	0	0		41	0.07	3	NM_001100622	24	0	0	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520970	0.44866	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.29	1.58	0.23477	.	0.141729	0.32328	N	0.006245	T	0.15565	0.0375	L	0.56769	1.78	0.09310	N	1	B;B;B;B	0.23806	0.073;0.073;0.073;0.091	B;B;B;B	0.30495	0.065;0.078;0.104;0.116	T	0.13308	-1.0514	10	0.36615	T	0.2	-7.7139	4.6918	0.12785	0.2852:0.1602:0.5546:0.0	.	477;477;477;477	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	L	477	ENSP00000255557:V477L;ENSP00000351937:V477L;ENSP00000268942:V477L;ENSP00000396970:V477L;ENSP00000440551:V477L	ENSP00000255557:V477L	V	+	1	0	C17orf80	68744645	0.017000	0.18338	0.782000	0.31804	0.954000	0.61252	0.205000	0.17356	1.065000	0.40693	0.655000	0.94253	GTG			0.522	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000441893.1		NM_017941		T	71233050	G	T	71233050	3	4	75	1	0	0	0	0	1	0	0	0	1887	1261	44	3	1431	3	C17orf80	17	71233050	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	27881467	71233050	9962160	46	5386											
C18orf8	29919	mdanderson.org	37	chr18	21109168	21109168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcagggcagagccgaaGcagcccgctcctcaagaggc	11	2	15	13	2	1	2	1	0	0	2	2	4	2	3	3	3	4	4	3	3	3	0			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr18:21109168G>A	ENST00000269221.3	+	15	1432	c.1322G>A	c.(1321-1323)aGc>aAc	p.S441N	C18orf8_ENST00000590868.1_Missense_Mutation_p.S393N	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	441						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGAGCCGAAGCAGCCCGCTC	0.552																																					p.S441N													.	.			0			c.G1322A												70	74	73					18																	21109168		2203	4300	6503	SO:0001583	missense	29919	exon15			GCCGAAGCAGCCC	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1322G>A	18.37:g.21109168G>A	ENSP00000269221:p.Ser441Asn		24	0	0		36	0.08	3	NM_013326	18	0	0	Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604085	0.46423	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.71	4.84	0.62591	.	0.192488	0.56097	N	0.000031	T	0.46405	0.1391	L	0.41236	1.265	0.80722	D	1	B;B	0.32302	0.363;0.361	B;B	0.29176	0.099;0.068	T	0.35375	-0.9791	9	0.16896	T	0.51	-9.5182	14.5477	0.68044	0.07:0.0:0.93:0.0	.	284;441	B7Z2Y1;Q96DM3	.;MIC1_HUMAN	N	441;284;393;284	.	ENSP00000269221:S441N	S	+	2	0	C18orf8	19363166	1.000000	0.71417	0.864000	0.33941	0.796000	0.44982	4.361000	0.59461	1.425000	0.47237	0.561000	0.74099	AGC			0.552	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445386.1		NM_013326		A	21109168	G	A	21109168	3	1	75	1	0	0	0	0	1	0	0	0	1909	971	34	2	1380	2	C18orf8	18	21109168	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10		21109168	56968080	47	5387											
ZNF396	252884	hgsc.bcm.edu	37	chr18	32949292	32949292	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcaccagtatgggttcGtcgatgctgaatcagaattg	9	13	10	9	2	2	2	2	1	1	1	5	3	2	2	1	1	1	3	1	1	3	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr18:32949292G>T	ENST00000589332.1	-	4	1026	c.895C>A	c.(895-897)Cga>Aga	p.R299R	ZNF396_ENST00000306346.1_Silent_p.R299R			Q96N95	ZN396_HUMAN	zinc finger protein 396	299					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)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GTATGGGTTCGTCGATGCTGA	0.428																																					p.R299R													ZNF396,NS,carcinoma,+1,1	ZNF396	1	1	0			c.C895A												82	80	81					18																	32949292		2203	4300	6503	SO:0001819	synonymous_variant	252884	exon4			GGGTTCGTCGATG	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"-", "Zinc fingers, C2H2-type"	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.895C>A	18.37:g.32949292G>T			126	0	0		70	0.04	3	NM_145756	0		0	A1L3V0|Q8NF98|Q8TD80	Silent	SNP	ENST00000589332.1	37																																																																																						0.428	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255766.1		NM_145756		T	32949292	G	T	32949292	2	4	75	1	0	0	0	0	0	0	0	1	17905	1153	40	1		1	ZNF396	18	32949292	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	11840124	32949292	45127956	48	5388											
ST8SIA5	29906	mdanderson.org	37	chr18	44260338	44260338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcggcgattcgaagtcGtccagcacgtacttgacgcg	7	9	13	12	7	0	1	0	1	0	0	3	3	1	1	1	1	3	3	1	1	2	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr18:44260338G>A	ENST00000315087.7	-	7	1458	c.798C>T	c.(796-798)gaC>gaT	p.D266D	ST8SIA5_ENST00000536490.1_Silent_p.D235D|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.D302D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	266					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATTCGAAGTCGTCCAGCACGT	0.612																																					p.D266D													.	.			0			c.C798T												120	70	87					18																	44260338		2203	4300	6503	SO:0001819	synonymous_variant	29906	exon7			GAAGTCGTCCAGC	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.798C>T	18.37:g.44260338G>A			71	0	0		51	0.06	3	NM_013305	6	0	0	B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	CCDS11930.1																																																																																					0.612	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255892.1		NM_013305		A	44260338	G	A	44260338	2	1	75	1	0	0	0	0	0	0	0	1	15258	1136	40	1		1	ST8SIA5	18	44260338	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	11311046	44260338	33816910	49	5389											
MEX3C	51320	mdanderson.org	37	chr18	48723021	48723021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgctctttctccggagcaGggccgcctgctccccgttca	4	9	11	17	4	3	0	1	0	2	0	5	2	4	1	5	2	2	4	5	2	0	2			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr18:48723021G>T	ENST00000592416.1	-	1	108	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	MEX3C_ENST00000591040.1_Intron			Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C	224					chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CTCCGGAGCAGGGCCGCCTGC	0.731																																					p.L224M													.	.			0			c.C670A												13	9	10					18																	48723021		2151	4223	6374	SO:0001583	missense	51320	exon1			GGAGCAGGGCCGC	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000592416.1:c.109C>A	18.37:g.48723021G>T	ENSP00000468078:p.Leu37Met		20	0	0		12	0.17	2	NM_016626	8	0	0	A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000592416.1	37		.	.	.	.	.	.	.	.	.	.	G	11.09	1.536960	0.27475	.	.	ENSG00000176624	ENST00000406189	T	0.35236	1.32	3.08	1.22	0.21188	.	0.333537	0.20024	U	0.100841	T	0.28962	0.0719	N	0.14661	0.345	0.24748	N	0.992998	D	0.65815	0.995	P	0.56278	0.795	T	0.09314	-1.0680	10	0.37606	T	0.19	-3.2236	5.7595	0.18192	0.2681:0.0:0.7319:0.0	.	224	Q5U5Q3	MEX3C_HUMAN	M	224	ENSP00000385610:L224M	ENSP00000385610:L224M	L	-	1	2	MEX3C	46977019	0.933000	0.31639	0.997000	0.53966	0.901000	0.52897	1.438000	0.35002	0.147000	0.19030	-0.680000	0.03767	CTG			0.731	MEX3C-002	PUTATIVE	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding		OTTHUMT00000449560.1		NM_016626		T	48723021	G	T	48723021	3	4	75	1	0	0	0	0	1	0	0	0	9527	991	35	3	1317	3	MEX3C	18	48723021	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	4462683	48723021	29354227	50	5390											
DCC	1630	mdanderson.org	37	chr18	51053066	51053066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcccctttgcttcctgtGtctgtgccaacagcccctga	6	12	8	15	0	1	2	0	1	1	1	3	2	3	2	6	0	4	1	6	0	1	2			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr18:51053066G>T	ENST00000442544.2	+	28	4807	c.4191G>T	c.(4189-4191)gtG>gtT	p.V1397V	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.V1030V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1397					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)		TGCTTCCTGTGTCTGTGCCAA	0.483																																					p.V1397V													.	.			0			c.G4191T												109	99	102					18																	51053066		2203	4300	6503	SO:0001819	synonymous_variant	1630	exon28			TCCTGTGTCTGTG	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.4191G>T	18.37:g.51053066G>T			69	0	0		42	0.07	3	NM_005215	2	0	0		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																					0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255996.3		NM_005215		T	51053066	G	T	51053066	2	4	75	1	0	0	0	0	0	0	0	1	4284	1364	48	3		3	DCC	18	51053066	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	2330045	51053066	27024182	51	5391											
MALT1	10892	mdanderson.org	37	chr18	56402546	56402546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaaatcactgtgttactgGatgaagttgcagaaggtaaa	16	10	11	4	0	1	3	1	1	0	2	1	4	1	4	0	2	2	4	0	2	7	3			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr18:56402546G>T	ENST00000348428.3	+	13	1846	c.1588G>T	c.(1588-1590)Gat>Tat	p.D530Y	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.D519Y	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	530	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TGTGTTACTGGATGAAGTTGC	0.353			T	BIRC3	MALT																																p.D530Y				Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	.	.			0			c.G1588T												32	38	36					18																	56402546		2179	4284	6463	SO:0001583	missense	10892	exon13			TTACTGGATGAAG		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1588G>T	18.37:g.56402546G>T	ENSP00000319279:p.Asp530Tyr		23	0	0		11	0.18	2	NM_006785	8	0	0	Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190606	0.78789	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.42900	0.96;0.96	5.69	5.69	0.88448	.	0.097095	0.64402	D	0.000001	T	0.63402	0.2508	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64360	-0.6426	10	0.87932	D	0	.	18.5844	0.91183	0.0:0.0:1.0:0.0	.	519;530	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	Y	530;519	ENSP00000319279:D530Y;ENSP00000304161:D519Y	ENSP00000304161:D519Y	D	+	1	0	MALT1	54553526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.683000	0.91414	0.591000	0.81541	GAT			0.353	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256132.2				T	56402546	G	T	56402546	3	4	75	1	0	0	0	0	1	0	0	0	9218	1174	41	3	1638	3	MALT1	18	56402546	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	5349480	56402546	21674702	52	5392											
SF4	57794	mdanderson.org	37	chr19	19416859	19416859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggtgggtgtgctgggagGggcgctgggcgcactggtcg	2	7	25	7	3	0	0	0	0	0	0	1	1	0	1	0	8	1	3	0	8	0	0			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr19:19416859G>T	ENST00000247001.5	-	4	684	c.337C>A	c.(337-339)Cct>Act	p.P113T	SUGP1_ENST00000334782.5_Missense_Mutation_p.P113T|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	113					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GTGCTGGGAGGGGCGCTGGGC	0.672																																					p.P113T													.	.			0			c.C337A												8	10	9					19																	19416859		2086	4060	6146	SO:0001583	missense	57794	exon4			TGGGAGGGGCGCT	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.337C>A	19.37:g.19416859G>T	ENSP00000247001:p.Pro113Thr		26	0	0		42	0.07	3	NM_172231	54	0	0	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574561	0.28092	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.23348	1.91	4.57	2.43	0.29744	.	0.526405	0.20439	N	0.092307	T	0.18045	0.0433	L	0.54323	1.7	0.26211	N	0.979306	B	0.28713	0.22	B	0.22386	0.039	T	0.16630	-1.0396	10	0.13853	T	0.58	.	5.8394	0.18625	0.2989:0.0:0.7011:0.0	.	113	Q8IWZ8	SUGP1_HUMAN	T	113	ENSP00000247001:P113T	ENSP00000247001:P113T	P	-	1	0	SUGP1	19277859	0.513000	0.26194	0.321000	0.25320	0.291000	0.27294	0.361000	0.20267	0.936000	0.37367	-0.123000	0.14984	CCT			0.672	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460128.4		NM_021164		T	19416859	G	T	19416859	3	4	75	1	0	0	0	0	1	0	0	0	14178	1232	43	3	1644	3	SF4	19	19416859	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10		19416859	39712124	53	5393											
CAPNS1	826	broad.mit.edu;bcgsc.ca	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000587718.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Silent_p.G47G|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000590874.1_Silent_p.G47G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	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.141C>T	19.37:g.36632054C>T			106	0.0094339623	1		88	0.1	9	NM_001749	5	0.2	1	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				T	36632054	C	T	36632054	2	4	75	1	0	0	0	0	0	0	0	1	2635	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10	17215195	36632054	22496929	54	5394											
ALDH16A1	126133	mdanderson.org	37	chr19	49972188	49972188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccgggaccatctgacccGctgcctggccttgcaccaag	8	6	11	16	2	1	2	0	1	1	1	1	3	1	3	6	2	2	2	6	2	1	1			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr19:49972188G>A	ENST00000293350.4	+	16	2355	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R680H|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R566H|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R568H|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	731						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.R731H(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CATCTGACCCGCTGCCTGGCC	0.567																																					p.R731H													.	.			1	Substitution - Missense(1)	urinary_tract(1)	c.G2192A												148	131	137					19																	49972188		2203	4300	6503	SO:0001583	missense	126133	exon16			TGACCCGCTGCCT	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2192G>A	19.37:g.49972188G>A	ENSP00000293350:p.Arg731His		17	0	0		15	0.2	3	NM_153329	242	0	0	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584541	0.86748	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.8	4.8	0.61643	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.647297	0.15847	N	0.241706	T	0.49795	0.1578	L	0.52364	1.645	0.39250	D	0.964028	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.933;0.998;0.96	T	0.50516	-0.8819	10	0.62326	D	0.03	-21.9857	13.7622	0.62973	0.0:0.0:1.0:0.0	.	568;680;731	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	H	731;680;568;566	ENSP00000293350:R731H;ENSP00000410142:R680H;ENSP00000445088:R568H;ENSP00000398675:R566H	ENSP00000293350:R731H	R	+	2	0	ALDH16A1	54664000	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.573000	0.67417	2.393000	0.81446	0.456000	0.33151	CGC			0.567	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465358.1		NM_153329		A	49972188	G	A	49972188	3	1	75	1	0	0	0	0	1	0	0	0	488	1087	38	1	2254	1	ALDH16A1	19	49972188	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	13340134	49972188	9156795	55	5395											
ATP5J	522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	27102058	27102058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcaaatggactgagacGgctgaccgaatgacagagga	13	5	13	10	3	0	4	0	3	0	2	1	8	1	6	2	3	0	2	2	3	2	0			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr21:27102058G>A	ENST00000400093.3	-	2	739	c.48C>T	c.(46-48)gcC>gcT	p.A16A	ATP5J_ENST00000400094.1_Silent_p.A16A|ATP5J_ENST00000457143.2_Silent_p.A24A|ATP5J_ENST00000400090.3_Silent_p.A16A|ATP5J_ENST00000400087.3_Silent_p.A16A|ATP5J_ENST00000400099.1_Silent_p.A16A|ATP5J_ENST00000284971.3_Silent_p.A16A	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	16					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						GGACTGAGACGGCTGACCGAA	0.398																																					p.A24A	Colon(101;404 1513 9184 32221 46005)												.	.			0			c.C72T												60	58	58					21																	27102058		2203	4300	6503	SO:0001819	synonymous_variant	522	exon2			TGAGACGGCTGAC	M37104	CCDS13574.1, CCDS46637.1	21q21.1	2012-10-12	2010-06-11		ENSG00000154723	ENSG00000154723		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	847	protein-coding gene	gene with protein product	"coupling factor 6"	603152	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6"	ATP5A, ATP5, ATPM		1830479, 1825642	Standard	NM_001685		Approved	CF6	uc002ylt.3	P18859	OTTHUMG00000078442	ENST00000400093.3:c.48C>T	21.37:g.27102058G>A			190	0	0		249	0.14	36	NM_001003701	1436	0.19	267	J3KQ83	Silent	SNP	ENST00000400093.3	37	CCDS13574.1																																																																																					0.398	ATP5J-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000171357.1		NM_001685		A	27102058	G	A	27102058	2	1	75	1	0	0	0	0	0	0	0	1	1158	1103	39	1		1	ATP5J	21	27102058	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10		27102058	21027837	56	5396											
PCNT	5116	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	47810695	47810695	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctggagtgtttgaaGgaggagagcgcagcaaaggc	11	6	18	6	1	0	2	0	1	0	1	0	6	0	4	0	4	4	5	0	4	2	1	rs370541579	byFrequency	TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chr21:47810695G>A	ENST00000359568.5	+	20	4058	c.3951G>A	c.(3949-3951)aaG>aaA	p.K1317K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1317				K -> T (in Ref. 1; AAD10838). {ECO:0000305}.	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)					AGTGTTTGAAGGAGGAGAGCG	0.547													G|||	5	0.000998403	0	0	5008	,	,		19276	0.005		0	False		,,,				2504	0				p.K1317K													.	PCNT	283		0			c.G3951A												34	33	33					21																	47810695		2202	4300	6502	SO:0001819	synonymous_variant	5116	exon20			TTTGAAGGAGGAG	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.3951G>A	21.37:g.47810695G>A			154	0	0		250	0.03	8	NM_006031	10	0	0	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																					0.547	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207336.1		NM_006031		A	47810695	G	A	47810695	2	1	75	1	0	0	0	0	0	0	0	1	11607	991	35	3		3	PCNT	21	47810695	Silent	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10	20708637	47810695	319200	57	5397											
ARR3	407	mdanderson.org	37	chrX	69501571	69501571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacgcggaaaggcgaggaGgagagccagaaggctgtgga	12	5	18	6	3	0	2	0	0	0	2	0	7	0	5	1	6	2	1	1	6	3	2			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chrX:69501571G>T	ENST00000307959.8	+	17	1173	c.1122G>T	c.(1120-1122)gaG>gaT	p.E374D	RAB41_ENST00000374473.2_5'Flank|RAB41_ENST00000276066.4_5'Flank	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	374					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						AAGGCGAGGAGGAGAGCCAGA	0.562																																					p.E374D													.	.			0			c.G1122T												80	53	62					X																	69501571		2196	4292	6488	SO:0001583	missense	407	exon17			CGAGGAGGAGAGC		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	ENST00000307959.8:c.1122G>T	X.37:g.69501571G>T	ENSP00000311538:p.Glu374Asp		30	0	0		39	0.08	3	NM_004312	2	0	0	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	G	7.784	0.710177	0.15239	.	.	ENSG00000120500	ENST00000374480;ENST00000307959	T	0.10005	2.92	3.75	-3.78	0.04333	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	3.417810	0.01507	N	0.017763	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	10	0.44086	T	0.13	.	5.36	0.16083	0.4651:0.2628:0.272:0.0	.	374	P36575	ARRC_HUMAN	D	374	ENSP00000311538:E374D	ENSP00000311538:E374D	E	+	3	2	ARR3	69418296	0.087000	0.21565	0.000000	0.03702	0.004000	0.04260	0.074000	0.14662	-1.290000	0.02372	-1.028000	0.02416	GAG			0.562	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057055.2		NM_004312		T	69501571	G	T	69501571	3	4	75	1	0	0	0	0	1	0	0	0	979	991	35	3	1184	3	ARR3	23	69501571	Missense_Mutation	SNP	G	TCGA-2G-AALY-01A-11D-A42Y-10		69501571	85768989	58	5398											
NOX1	27035	broad.mit.edu	37	chrX	100105256	100105256	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcagaggtcaaagtaaaAggatgccattccaggagaga	16	5	14	6	0	1	2	1	0	0	2	2	6	2	5	2	4	2	2	2	4	3	2			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chrX:100105256A>G	ENST00000372966.3	-	9	1222	c.1017T>C	c.(1015-1017)ccT>ccC	p.P339P	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Silent_p.P339P|NOX1_ENST00000372960.4_Silent_p.P302P	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	339	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCAAAGTAAAAGGATGCCATT	0.448																																					p.P339P													.	NOX1	79		0			c.T1017C												66	62	63					X																	100105256		2203	4300	6503	SO:0001819	synonymous_variant	27035	exon9			AGTAAAAGGATGC	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1017T>C	X.37:g.100105256A>G			68	0	0		117	0.03	4	NM_013955	2	0	0	A8K836|O95691|Q2PP02	Silent	SNP	ENST00000372966.3	37	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	A	5.456	0.269283	0.10349	.	.	ENSG00000007952	ENST00000427768	.	.	.	3.87	1.8	0.24995	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49890	-0.8891	4	.	.	.	-5.2296	8.5096	0.33208	0.2544:0.0:0.7456:0.0	.	.	.	.	L	24	.	.	F	-	1	0	NOX1	99991912	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	0.722000	0.25925	0.628000	0.30357	-0.537000	0.04273	TTT			0.448	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057495.1		NM_007052		G	100105256	A	G	100105256	2	3	75	1	0	0	0	0	0	0	0	1	10573	59	3	4		4	NOX1	23	100105256	Silent	SNP	A	TCGA-2G-AALY-01A-11D-A42Y-10	30603685	100105256	55165304	59	5399											
HCFC1	3054	mdanderson.org	37	chrX	153215724	153215724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacttgtgtggccgggcCatagcccttctcattgcggg	4	11	12	14	2	2	0	2	0	1	0	3	0	2	0	4	3	2	0	4	3	1	4			TCGA-2G-AALY-01A-11D-A42Y-10	TCGA-2G-AALY-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1d72b00-762d-4b89-bd7e-f9010bfa451a	8bc7851f-087a-4d33-a4e0-20e48169eee0	g.chrX:153215724C>T	ENST00000310441.7	-	24	6940	c.5974G>A	c.(5974-5976)Ggc>Agc	p.G1992S	HCFC1_ENST00000354233.3_Missense_Mutation_p.G1923S|HCFC1_ENST00000369984.4_Missense_Mutation_p.G2037S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1992	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					GTGGCCGGGCCATAGCCCTTC	0.632																																					p.G1992S													.	.			0			c.G5974A												52	53	53					X																	153215724		2099	4190	6289	SO:0001583	missense	3054	exon24			CCGGGCCATAGCC		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.5974G>A	X.37:g.153215724C>T	ENSP00000309555:p.Gly1992Ser		20	0	0		34	0.09	3	NM_005334	121	0	0	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.361470|5.361470	0.95877|0.95877	.|.	.|.	ENSG00000172534|ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233|ENST00000444191	T;T;T|.	0.59772|.	0.24;0.24;0.24|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76779|.	0.4035|.	M|M	0.77616|0.77616	2.38|2.38	0.49687|0.49687	D|D	0.999815|0.999815	D|.	0.76494|.	0.999|.	D|.	0.91635|.	0.999|.	T|.	0.77814|.	-0.2448|.	10|.	0.87932|.	D|.	0|.	.|.	16.8817|16.8817	0.86065|0.86065	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1992|.	P51610|.	HCFC1_HUMAN|.	S|X	1992;2037;1923|567	ENSP00000309555:G1992S;ENSP00000359001:G2037S;ENSP00000346174:G1923S|.	ENSP00000309555:G1992S|.	G|W	-|-	1|2	0|0	HCFC1|HCFC1	152868918|152868918	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.940000|0.940000	0.58332|0.58332	7.813000|7.813000	0.86123|0.86123	2.247000|2.247000	0.74100|0.74100	0.525000|0.525000	0.51046|0.51046	GGC|TGG			0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061099.4		NM_005334		T	153215724	C	T	153215724	3	4	75	1	0	0	0	0	1	0	0	0	7006	594	21	3	145	3	HCFC1	23	153215724	Missense_Mutation	SNP	C	TCGA-2G-AALY-01A-11D-A42Y-10	53110468	153215724	2054836	60	5400											
AHDC1	27245	broad.mit.edu	37	chr1	27878527	27878528	+	Frame_Shift_Ins	INS	-	-	GG																															ggaagcaggggccggggggtINSgggggggccgccggggtagt																										TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr1:27878527_27878528insGG	ENST00000247087.5	-	5	695_696	c.99_100insCC	c.(97-102)cccaccfs	p.T34fs	AHDC1_ENST00000374011.2_Frame_Shift_Ins_p.T34fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	34	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)		ggccggggggtgggggggccgc	0.708																																					p.T34fs													.	AHDC1	98		0			c.100_101insCC																																									SO:0001589	frameshift_variant	27245	exon6			GGGGGGTGGGGGG	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.98_99dupCC	1.37:g.27878532_27878533dupGG	ENSP00000247087:p.Thr34fs		35	0	0		47	0.19	9	NM_001029882	3	0	0	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Ins	INS	ENST00000247087.5	37	CCDS30652.1																																																																																					0.708	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009523.3				GG	27878528	-	GG	27878527	7	5	76	1	0	1	1	0	0	0	0	0	412	1696	59	0	4715	0	AHDC1	1	27878527	Frame_Shift_Ins	INS	-	TCGA-2G-AALZ-01A-11D-A42Y-10		27878527	221372094	1	5401											
NLRP3	114548	mdanderson.org	37	chr1	247582355	247582355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagacctttatgagaaaGcaaaaagagatgagccgaag	18	5	13	5	1	0	4	0	2	0	3	0	9	0	5	2	1	2	1	2	1	5	2			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr1:247582355G>T	ENST00000336119.3	+	1	1005	c.259G>T	c.(259-261)Gca>Tca	p.A87S	NLRP3_ENST00000366496.2_Missense_Mutation_p.A87S|NLRP3_ENST00000391827.2_Missense_Mutation_p.A87S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.A87S|NLRP3_ENST00000391828.3_Missense_Mutation_p.A87S|NLRP3_ENST00000366497.2_Missense_Mutation_p.A87S	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	87	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTATGAGAAAGCAAAAAGAGA	0.448																																					p.A87S													.	.			0			c.G259T												61	58	59					1																	247582355		2203	4300	6503	SO:0001583	missense	114548	exon1			GAGAAAGCAAAAA	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.259G>T	1.37:g.247582355G>T	ENSP00000337383:p.Ala87Ser		17	0	0		19	0.11	2	NM_004895	1	0	0	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876137	0.51801	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	4.49	4.49	0.54785	Pyrin (2);DEATH-like (2);	0.000000	0.51477	D	0.000099	T	0.67154	0.2863	M	0.79123	2.44	0.24858	N	0.992366	D;B;D;P;D	0.56521	0.976;0.025;0.969;0.871;0.969	D;B;D;D;D	0.74674	0.975;0.295;0.977;0.914;0.984	T	0.60167	-0.7316	10	0.56958	D	0.05	.	12.8787	0.58003	0.0:0.0:1.0:0.0	.	87;87;87;87;87	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	S	87	ENSP00000375704:A87S;ENSP00000355453:A87S;ENSP00000337383:A87S;ENSP00000294752:A87S;ENSP00000355452:A87S;ENSP00000375703:A87S	ENSP00000337383:A87S	A	+	1	0	NLRP3	245648978	0.596000	0.26866	0.317000	0.25265	0.470000	0.32858	1.746000	0.38288	2.498000	0.84270	0.561000	0.74099	GCA			0.448	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097740.1		NM_004895		T	247582355	G	T	247582355	3	4	76	1	0	0	0	0	1	0	0	0	10495	971	34	2	261	2	NLRP3	1	247582355	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	219703828	247582355	1668266	2	5402											
KCNS3	3790	broad.mit.edu;mdanderson.org	37	chr2	18113148	18113148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgggcaaggtggtccagatCctacggcttatgaggatttt	9	12	13	7	1	0	2	0	1	0	1	2	3	2	3	2	5	1	2	2	5	3	4			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr2:18113148C>T	ENST00000403915.1	+	3	1324	c.873C>T	c.(871-873)atC>atT	p.I291I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.I291I	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	291					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTCCAGATCCTACGGCTTA	0.488																																					p.I291I													.	KCNS3	85		0			c.C873T												117	113	115					2																	18113148		2203	4300	6503	SO:0001819	synonymous_variant	3790	exon3			CCAGATCCTACGG	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.873C>T	2.37:g.18113148C>T			90	0	0		126	0.04	5	NM_002252	5	0	0	D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	ENST00000403915.1	37	CCDS1692.1																																																																																					0.488	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323808.1		NM_002252		T	18113148	C	T	18113148	2	4	76	1	0	0	0	0	0	0	0	1	8105	845	30	3		3	KCNS3	2	18113148	Silent	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10		18113148	225086225	3	5403											
SOS1	6654	hgsc.bcm.edu	37	chr2	39237743	39237743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctcaaaccacagagtgAggttggtggtatgtcgaatc	11	11	11	8	1	1	2	1	1	1	1	4	3	1	2	1	3	1	2	1	3	3	3			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr2:39237743A>G	ENST00000426016.1	-	16	2578	c.2492T>C	c.(2491-2493)cTc>cCc	p.L831P	SOS1_ENST00000402219.2_Missense_Mutation_p.L831P|SOS1_ENST00000395038.2_Missense_Mutation_p.L831P			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	831	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)				CCACAGAGTGAGGTTGGTGGT	0.333									Noonan syndrome																												p.L831P													.	.			0			c.T2492C												135	127	130					2																	39237743		2203	4300	6503	SO:0001583	missense	6654	exon15	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	AGAGTGAGGTTGG	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.2492T>C	2.37:g.39237743A>G	ENSP00000387784:p.Leu831Pro		57	0	0		67	0.06	4	NM_005633	8	0	0	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.716696	0.68844	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.38240	1.15;1.15;1.15	5.65	5.65	0.86999	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.064522	0.64402	D	0.000006	T	0.66117	0.2757	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73056	-0.4103	10	0.87932	D	0	.	15.9118	0.79477	1.0:0.0:0.0:0.0	.	831	Q07889	SOS1_HUMAN	P	831;831;563;831;831	ENSP00000387784:L831P;ENSP00000384675:L831P;ENSP00000378479:L831P	ENSP00000263879:L831P	L	-	2	0	SOS1	39091247	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	9.205000	0.95048	2.141000	0.66446	0.524000	0.50904	CTC			0.333	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219948.3		NM_005633		G	39237743	A	G	39237743	3	3	76	1	0	0	0	0	1	0	0	0	14959	304	11	4	1545	4	SOS1	2	39237743	Missense_Mutation	SNP	A	TCGA-2G-AALZ-01A-11D-A42Y-10	21124595	39237743	203961630	4	5404											
USP34	9736	broad.mit.edu	37	chr2	61610448	61610448	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataatgtgctgcatgacagcGggaatatgtagccatattct	12	12	10	7	1	1	1	0	1	1	0	1	2	1	2	1	1	4	3	1	1	5	5	rs202087339	byFrequency	TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr2:61610448G>T	ENST00000398571.2	-	6	853	c.777C>A	c.(775-777)ccC>ccA	p.P259P		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	259					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)	p.P259P(1)		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)			GCATGACAGCGGGAATATGTA	0.274																																					p.P259P													.	USP34	334		1	Substitution - coding silent(1)	lung(1)	c.C777A												49	51	50					2																	61610448		1823	4078	5901	SO:0001819	synonymous_variant	9736	exon6			GACAGCGGGAATA	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.777C>A	2.37:g.61610448G>T			239	0	0		318	0.01	4	NM_014709	1	0	0	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																					0.274	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325650.4				T	61610448	G	T	61610448	2	4	76	1	0	0	0	0	0	0	0	1	17089	1103	39	1		1	USP34	2	61610448	Silent	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	22372705	61610448	181588925	5	5405											
ACTR1B	10120	broad.mit.edu;mdanderson.org	37	chr2	98274702	98274702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacatcaagcgtgctgccGtctggcaacgtgtactgcac	8	10	10	13	3	2	0	1	0	1	0	2	0	2	0	1	1	7	4	1	1	4	2	rs146624887	byFrequency	TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr2:98274702G>A	ENST00000289228.5	-	7	951	c.735C>T	c.(733-735)gaC>gaT	p.D245D		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	245					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GCGTGCTGCCGTCTGGCAACG	0.642													G|||	2	0.000399361	0	0.0014	5008	,	,		20714	0		0.001	False		,,,				2504	0				p.D245D													.	ACTR1B	34		0			c.C735T							G		2,4404		0,2,2201	98	77	84		735	-8.1	0	2	dbSNP_134	84	18,8582		0,18,4282	no	coding-synonymous	ACTR1B	NM_005735.3		0,20,6483	AA,AG,GG		0.2093,0.0454,0.1538		245/377	98274702	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	10120	exon7			GCTGCCGTCTGGC	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.735C>T	2.37:g.98274702G>A			44	0	0		62	0.06	4	NM_005735	93	0.02	2	D3DVH2|Q53SK5|Q9BRB7	Silent	SNP	ENST00000289228.5	37	CCDS2033.1																																																																																					0.642	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252973.1		NM_005735		A	98274702	G	A	98274702	2	1	76	1	0	0	0	0	0	0	0	1	210	1136	40	1		1	ACTR1B	2	98274702	Silent	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	36664254	98274702	144924671	6	5406											
KCNJ13	3769	broad.mit.edu	37	chr2	233635973	233635973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgcaagacctctttgagCgccatccatttgaagtgtgc	10	12	9	10	1	1	3	0	2	1	1	2	3	2	3	3	0	3	1	3	0	3	3			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr2:233635973C>T	ENST00000233826.3	-	2	239	c.100G>A	c.(100-102)Gct>Act	p.A34T	GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.A34T|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.A34T	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	34					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CCTCTTTGAGCGCCATCCATT	0.473																																					p.A34T													.	KCNJ13	18		0			c.G100A												152	131	138					2																	233635973		2203	4300	6503	SO:0001583	missense	3769	exon2			TTTGAGCGCCATC	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.100G>A	2.37:g.233635973C>T	ENSP00000233826:p.Ala34Thr		100	0	0		135	0.03	4	NM_001172416	0		0	A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	CCDS2498.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.192743|2.192743	0.38707|0.38707	.|.	.|.	ENSG00000115474|ENSG00000115474	ENST00000233826;ENST00000409779;ENST00000410029|ENST00000444142	D;D;D|.	0.93763|.	-3.28;-3.28;-3.28|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);|.	0.442058|.	0.26935|.	N|.	0.021742|.	T|T	0.57607|0.57607	0.2065|0.2065	L|L	0.40543|0.40543	1.245|1.245	0.36325|0.36325	D|D	0.858509|0.858509	P;D|.	0.63046|.	0.898;0.992|.	B;P|.	0.47134|.	0.209;0.539|.	T|T	0.61594|0.61594	-0.7031|-0.7031	10|5	0.66056|.	D|.	0.02|.	.|.	12.8928|12.8928	0.58082|0.58082	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	34;34|.	O60928;A0PGH1|.	IRK13_HUMAN;.|.	T|H	34|1	ENSP00000233826:A34T;ENSP00000386408:A34T;ENSP00000386251:A34T|.	ENSP00000233826:A34T|.	A|R	-|-	1|2	0|0	KCNJ13|KCNJ13	233344217|233344217	0.958000|0.958000	0.32768|0.32768	0.984000|0.984000	0.44739|0.44739	0.949000|0.949000	0.60115|0.60115	1.061000|1.061000	0.30542|0.30542	2.629000|2.629000	0.89072|0.89072	0.655000|0.655000	0.94253|0.94253	GCT|CGC			0.473	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257036.1		NM_002242		T	233635973	C	T	233635973	3	4	76	1	0	0	0	0	1	0	0	0	8062	768	27	1	990	1	KCNJ13	2	233635973	Missense_Mutation	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	135361271	233635973	9563400	7	5407											
SCLY	51540	mdanderson.org	37	chr2	239006909	239006909	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaacgcgctccggctcagCgtgggccgcagcaccaccag	8	3	14	16	5	1	0	1	0	0	0	2	1	2	1	4	3	3	4	4	3	1	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr2:239006909C>T	ENST00000555827.1	+	12	1315	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	ESPNL_ENST00000343063.3_5'Flank|SCLY_ENST00000429612.2_Silent_p.S211S|ESPNL_ENST00000409169.1_5'Flank|SCLY_ENST00000254663.6_Silent_p.S425S|SCLY_ENST00000422984.2_Silent_p.S323S			Q96I15	SCLY_HUMAN	selenocysteine lyase	417					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TCCGGCTCAGCGTGGGCCGCA	0.716																																					p.S425S	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)												.	.			0			c.C1275T												31	30	30					2																	239006909		2203	4297	6500	SO:0001819	synonymous_variant	51540	exon12			GCTCAGCGTGGGC	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.1251C>T	2.37:g.239006909C>T			42	0	0		43	0.07	3	NM_016510	10	0	0	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Silent	SNP	ENST00000555827.1	37																																																																																						0.716	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_016510		T	239006909	C	T	239006909	2	4	76	1	0	0	0	0	0	0	0	1	13930	767	27	1		1	SCLY	2	239006909	Silent	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	5370936	239006909	4192464	8	5408											
FANCD2	2177	ucsc.edu	37	chr3	10091153	10091153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctagagttggtagtgttaaaCccatctgctatgatgatgaa	12	13	10	6	0	1	4	0	3	1	1	1	4	1	4	1	1	2	4	1	1	6	5	rs35652360	byFrequency	TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr3:10091153C>T	ENST00000419585.1	+	17	1670	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	FANCD2_ENST00000383806.1_Silent_p.N503N|FANCD2_ENST00000287647.3_Silent_p.N503N|FANCD2_ENST00000383807.1_Silent_p.N503N			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	503					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)		TAGTGTTAAACCCATCTGCTA	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.N503N			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	.	FANCD2	253		0			c.C1509T												237	256	249					3																	10091153		2201	4296	6497	SO:0001819	synonymous_variant	2177	exon17	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GTTAAACCCATCT	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.1509C>T	3.37:g.10091153C>T			86	0.0813953488	7		85	0.16	14	NM_001018115	7	0.57	4	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																					0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339873.1				T	10091153	C	T	10091153	2	4	76	1	0	0	0	0	0	0	0	1	5678	506	18	3		3	FANCD2	3	10091153	Silent	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10		10091153	187931277	9	5409											
OSBPL10	114884	mdanderson.org	37	chr3	32022535	32022535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccgccgagcccggccGccgccgaccggctggagacc	4	1	14	22	8	0	1	0	0	0	1	0	4	0	1	10	3	1	1	10	3	0	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr3:32022535G>T	ENST00000396556.2	-	1	259	c.137C>A	c.(136-138)gCg>gAg	p.A46E	ZNF860_ENST00000360311.4_5'Flank|OSBPL10_ENST00000438237.2_Missense_Mutation_p.A46E	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	46					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		gagcccggccgccgccgACCG	0.791																																					p.A46E													.	.			0			c.C137A												1	1	1					3																	32022535		358	1100	1458	SO:0001583	missense	114884	exon1			CCGGCCGCCGCCG	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.137C>A	3.37:g.32022535G>T	ENSP00000379804:p.Ala46Glu		13	0	0		15	0.13	2	NM_017784	0		0	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948433	0.18356	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.23552	1.9;2.19	4.07	1.26	0.21427	.	606.941000	0.00166	N	0.000001	T	0.15955	0.0384	N	0.14661	0.345	0.09310	N	1	B;B	0.18166	0.026;0.026	B;B	0.15052	0.012;0.012	T	0.20638	-1.0269	10	0.12766	T	0.61	1.0E-4	7.8168	0.29265	0.2913:0.0:0.7087:0.0	.	46;46	B4E212;Q9BXB5	.;OSB10_HUMAN	E	46	ENSP00000379804:A46E;ENSP00000406124:A46E	ENSP00000379804:A46E	A	-	2	0	OSBPL10	31997539	0.055000	0.20627	0.023000	0.16930	0.043000	0.13939	0.452000	0.21795	0.139000	0.18822	0.313000	0.20887	GCG			0.791	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253165.2				T	32022535	G	T	32022535	3	4	76	1	0	0	0	0	1	0	0	0	11292	1087	38	1	2205	1	OSBPL10	3	32022535	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	21931382	32022535	165999895	10	5410											
MST1	327	hgsc.bcm.edu	37	chr3	49723603	49723603	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagccgtcggggttccGgcagaagttctcccgaaggt	6	9	14	12	4	2	2	0	1	2	1	5	3	3	2	3	4	1	3	3	4	2	2	rs199969873	byFrequency	TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R347W|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	8e-04	0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001				p.R347W													MST1,NS,carcinoma,0,5	MST1	0	5	5	Substitution - Missense(5)	endometrium(4)|skin(1)	c.C1039T																																									SO:0001628	intergenic_variant	4485	exon9			GGTTCCGGCAGAA	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A			44	0.0227272727	1		68	0.15	10	NM_020998	14	0	0	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG	0.005		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346415.2				A	49723603	G	A	49723603	1	1	76	0	1	0	0	0	0	0	0	0	9906	1115	39	1		1	MST1	3	49723603	IGR	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	17701068	49723603	148298827	11	5411											
OTOP1	133060	mdanderson.org	37	chr4	4204288	4204288	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaggttggtgaacaccGagtggatcactccaaacctg	12	7	12	10	1	1	1	1	1	0	0	2	4	2	2	3	3	3	2	3	3	3	1	rs150117288		TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr4:4204288G>T	ENST00000296358.4	-	4	641	c.617C>A	c.(616-618)tCg>tAg	p.S206*		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	206					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTGAACACCGAGTGGATCAC	0.532																																					p.S206X													.	.			0			c.C617A												98	89	92					4																	4204288		2203	4300	6503	SO:0001587	stop_gained	133060	exon4			AACACCGAGTGGA	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.617C>A	4.37:g.4204288G>T	ENSP00000296358:p.Ser206*		29	0	0		36	0.08	3	NM_177998	0		0	A1L476	Nonsense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	37	6.406454	0.97542	.	.	ENSG00000163982	ENST00000296358	.	.	.	5.46	5.46	0.80206	.	0.058264	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.5076	19.3021	0.94148	0.0:0.0:1.0:0.0	.	.	.	.	X	206	.	ENSP00000296358:S206X	S	-	2	0	OTOP1	4255189	1.000000	0.71417	0.987000	0.45799	0.904000	0.53231	8.713000	0.91408	2.565000	0.86533	0.603000	0.83216	TCG			0.532	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206661.2		NM_177998		T	4204288	G	T	4204288	4	4	76	1	0	0	0	0	0	1	0	0	11322	1059	37	1	1233	1	OTOP1	4	4204288	Nonsense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		4204288	186949988	12	5412											
FAM149A	25854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	187084616	187084616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcatcgggtggaggggcagGtgctctctcctccgcaccgc	5	7	15	14	3	1	0	0	0	1	0	5	1	3	1	3	5	2	4	3	5	0	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr4:187084616G>A	ENST00000356371.5	+	10	1745	c.1745G>A	c.(1744-1746)gGt>gAt	p.G582D	FAM149A_ENST00000389354.5_Missense_Mutation_p.G291D|FAM149A_ENST00000227065.4_Missense_Mutation_p.G291D|FAM149A_ENST00000502970.1_Missense_Mutation_p.G291D|FAM149A_ENST00000503432.1_Missense_Mutation_p.G291D|FAM149A_ENST00000514153.1_Missense_Mutation_p.G291D			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	582										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGAGGGGCAGGTGCTCTCTCC	0.567																																					p.G291D													.	.			0			c.G872A												81	75	77					4																	187084616		2203	4300	6503	SO:0001583	missense	25854	exon9			GGGCAGGTGCTCT	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1745G>A	4.37:g.187084616G>A	ENSP00000348732:p.Gly582Asp		100	0	0		114	0.11	12	NM_001006655	13	0.08	1	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		.	.	.	.	.	.	.	.	.	.	g	10.15	1.270397	0.23221	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.12147	2.77;2.71;2.77;2.77;2.77;2.77	4.99	1.28	0.21552	.	0.879568	0.09926	N	0.737820	T	0.16428	0.0395	L	0.57536	1.79	0.09310	N	1	P;P	0.41848	0.763;0.704	B;B	0.41894	0.369;0.143	T	0.15665	-1.0429	10	0.51188	T	0.08	0.36	8.0209	0.30408	0.1435:0.2031:0.6534:0.0	.	582;582	A5PLN7-3;A5PLN7	.;F149A_HUMAN	D	291;582;291;291;291;291	ENSP00000426835:G291D;ENSP00000348732:G582D;ENSP00000227065:G291D;ENSP00000427155:G291D;ENSP00000424380:G291D;ENSP00000374005:G291D	ENSP00000227065:G291D	G	+	2	0	FAM149A	187321610	0.031000	0.19500	0.000000	0.03702	0.021000	0.10359	2.241000	0.43097	-0.071000	0.12886	0.298000	0.19748	GGT			0.567	FAM149A-201	KNOWN	basic	protein_coding	protein_coding				NM_001006655		A	187084616	G	A	187084616	3	1	76	1	0	0	0	0	1	0	0	0	5465	1261	44	3	898	3	FAM149A	4	187084616	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	182880328	187084616	4069660	13	5413											
GZMK	3003	broad.mit.edu	37	chr5	54329635	54329635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaaaggtgtcttccacGctatagtctctggaggtcat	8	14	10	9	1	4	0	1	0	3	0	6	1	5	1	1	3	0	2	1	3	4	4	rs200562138		TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr5:54329635G>A	ENST00000231009.2	+	5	746	c.676G>A	c.(676-678)Gct>Act	p.A226T	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A226S(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTCTTCCACGCTATAGTCTC	0.453																																					p.A226T													GZMK,NS,carcinoma,0,1	GZMK	39	1	1	Substitution - Missense(1)	lung(1)	c.G676A							G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	102	93	96		676	5.3	0.7	5		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	GZMK	NM_002104.2	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	226/265	54329635	2,13004	2203	4300	6503	SO:0001583	missense	3003	exon5			TTCCACGCTATAG	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.676G>A	5.37:g.54329635G>A	ENSP00000231009:p.Ala226Thr		114	0	0		146	0.03	4	NM_002104	35	0	0	B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	36	5.733630	0.96865	2.27E-4	1.16E-4	ENSG00000113088	ENST00000231009	D	0.88975	-2.45	5.28	5.28	0.74379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.065450	0.64402	D	0.000018	D	0.90494	0.7022	L	0.49778	1.585	0.42889	D	0.994198	D	0.61080	0.989	P	0.53518	0.728	D	0.91543	0.5251	10	0.87932	D	0	.	16.4636	0.84071	0.0:0.0:1.0:0.0	.	226	P49863	GRAK_HUMAN	T	226	ENSP00000231009:A226T	ENSP00000231009:A226T	A	+	1	0	GZMK	54365392	0.998000	0.40836	0.687000	0.30102	0.559000	0.35586	7.069000	0.76755	2.738000	0.93877	0.655000	0.94253	GCT			0.453	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214098.1		NM_002104		A	54329635	G	A	54329635	3	1	76	1	0	0	0	0	1	0	0	0	6933	1087	38	1	694	1	GZMK	5	54329635	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		54329635	126585625	14	5414											
NUDT12	83594	mdanderson.org	37	chr5	102887928	102887928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactttacctgttctctaGtgaaccagcgggcatcctct	8	13	8	12	1	2	2	0	2	2	0	4	2	3	2	3	1	4	2	3	1	4	4			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr5:102887928G>T	ENST00000230792.2	-	6	1364	c.1268C>A	c.(1267-1269)aCt>aAt	p.T423N	NUDT12_ENST00000507423.1_Missense_Mutation_p.T405N|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	423	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				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)		CTGTTCTCTAGTGAACCAGCG	0.398																																					p.T423N													.	.			0			c.C1268A												139	136	137					5																	102887928		2202	4300	6502	SO:0001583	missense	83594	exon6			TCTCTAGTGAACC	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.1268C>A	5.37:g.102887928G>T	ENSP00000230792:p.Thr423Asn		58	0	0		45	0.07	3	NM_031438	7	0	0	B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890439	0.72524	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.45276	0.9;0.9	5.46	5.46	0.80206	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.091171	0.85682	D	0.000000	T	0.61135	0.2323	M	0.71296	2.17	0.53688	D	0.999979	D;D	0.63880	0.993;0.98	P;P	0.61477	0.889;0.833	T	0.62020	-0.6942	10	0.54805	T	0.06	-29.1391	15.9762	0.80066	0.0:0.1348:0.8652:0.0	.	405;423	E7EM93;Q9BQG2	.;NUD12_HUMAN	N	423;405	ENSP00000230792:T423N;ENSP00000424521:T405N	ENSP00000230792:T423N	T	-	2	0	NUDT12	102915827	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.501000	0.81600	2.724000	0.93272	0.650000	0.86243	ACT			0.398	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250650.1		NM_031438		T	102887928	G	T	102887928	3	4	76	1	0	0	0	0	1	0	0	0	10745	1029	36	3	128	3	NUDT12	5	102887928	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	48558293	102887928	78027332	15	5415											
CAMK4	814	mdanderson.org	37	chr5	110814164	110814164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaatattactttatcTccccctggtgggatgaagta	10	15	9	7	0	1	2	0	2	1	0	2	3	1	3	2	2	1	1	2	2	6	6			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr5:110814164T>C	ENST00000282356.4	+	9	1185	c.787T>C	c.(787-789)Tcc>Ccc	p.S263P	CAMK4_ENST00000512453.1_Missense_Mutation_p.S263P	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTACTTTATCTCCCCCTGGTG	0.318																																					p.S263P													.	.			0			c.T787C												78	82	81					5																	110814164		2202	4299	6501	SO:0001583	missense	814	exon9			TTTATCTCCCCCT	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.787T>C	5.37:g.110814164T>C	ENSP00000282356:p.Ser263Pro		34	0.0294117647	1		44	0.07	3	NM_001744	1	0	0	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037645	0.93630	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.66638	-0.22;-0.22	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.180982	0.50627	N	0.000109	T	0.68421	0.2999	L	0.28115	0.83	0.80722	D	1	P	0.51537	0.946	P	0.55087	0.768	T	0.72656	-0.4227	10	0.87932	D	0	.	16.3232	0.82961	0.0:0.0:0.0:1.0	.	263	Q16566	KCC4_HUMAN	P	263	ENSP00000422634:S263P;ENSP00000282356:S263P	ENSP00000282356:S263P	S	+	1	0	CAMK4	110842063	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.621000	0.83083	2.254000	0.74563	0.482000	0.46254	TCC			0.318	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250719.2		NM_001744		C	110814164	T	C	110814164	3	2	76	1	0	0	0	0	1	0	0	0	2607	1551	54	4	821	4	CAMK4	5	110814164	Missense_Mutation	SNP	T	TCGA-2G-AALZ-01A-11D-A42Y-10	7926236	110814164	70101096	16	5416											
CCDC112	153733	mdanderson.org	37	chr5	114612674	114612674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacttacaatcaggtgtagGcttcacatcttttaattgat	11	17	6	7	0	3	1	2	1	1	0	3	1	3	1	0	2	2	2	0	2	5	7			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr5:114612674G>T	ENST00000512261.1	-	5	606	c.190C>A	c.(190-192)Cct>Act	p.P64T	CCDC112_ENST00000506442.1_Missense_Mutation_p.P64T|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Missense_Mutation_p.P64T|CCDC112_ENST00000379611.5_Missense_Mutation_p.P147T			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	64										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCAGGTGTAGGCTTCACATCT	0.299																																					p.P147T													.	.			0			c.C439A												126	124	125					5																	114612674		2201	4298	6499	SO:0001583	missense	153733	exon4			GTGTAGGCTTCAC	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.190C>A	5.37:g.114612674G>T	ENSP00000423712:p.Pro64Thr		30	0	0		43	0.07	3	NM_001040440	0		0	Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709703	0.68730	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.20738	2.05;2.12;2.14;2.12	5.72	4.67	0.58626	.	0.154368	0.64402	D	0.000015	T	0.34337	0.0894	L	0.53249	1.67	0.36697	D	0.879928	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.56865	0.808;0.808;0.808	T	0.11421	-1.0588	10	0.25751	T	0.34	-15.6877	15.6018	0.76631	0.0767:0.0:0.9233:0.0	.	64;147;64	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	T	147;64;64;64	ENSP00000368931:P147T;ENSP00000423712:P64T;ENSP00000424876:P64T;ENSP00000378925:P64T	ENSP00000368931:P147T	P	-	1	0	CCDC112	114640573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.793000	0.69060	2.711000	0.92665	0.655000	0.94253	CCT			0.299	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000370999.1		NM_152549		T	114612674	G	T	114612674	3	4	76	1	0	0	0	0	1	0	0	0	2751	1203	42	2	1178	2	CCDC112	5	114612674	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	3798510	114612674	66302586	17	5417											
APBB3	10307	mdanderson.org	37	chr5	139941994	139941994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtctgggccagctgctGgatacagttattgactgcaa	8	10	14	9	1	1	1	0	1	1	0	1	2	1	2	1	3	4	4	1	3	3	3			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr5:139941994G>T	ENST00000357560.4	-	5	885	c.442C>A	c.(442-444)Cag>Aag	p.Q148K	SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000358580.5_Missense_Mutation_p.Q148K|APBB3_ENST00000508496.2_5'UTR|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.Q148K|APBB3_ENST00000511201.2_Missense_Mutation_p.Q148K|APBB3_ENST00000354402.5_Missense_Mutation_p.Q148K|APBB3_ENST00000412920.3_Missense_Mutation_p.Q148K|APBB3_ENST00000507279.1_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	148	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCTGCTGGATACAGTTA	0.612																																					p.Q148K													.	.			0			c.C442A												103	111	108					5																	139941994		2203	4300	6503	SO:0001583	missense	10307	exon5			GCTGCTGGATACA	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.442C>A	5.37:g.139941994G>T	ENSP00000350171:p.Gln148Lys		39	0	0		32	0.09	3	NM_133172	36	0	0	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000805	0.93227	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;2.19;2.19	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	T	0.54655	-0.8261	9	.	.	.	-10.0463	18.213	0.89877	0.0:0.0:1.0:0.0	.	148;148	O95704-2;O95704-3	.;.	K	148	ENSP00000351389:Q148K;ENSP00000349177:Q148K;ENSP00000346378:Q148K;ENSP00000350171:Q148K;ENSP00000402591:Q148K;ENSP00000424317:Q148K	.	Q	-	1	0	APBB3	139922178	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.646000	0.98474	2.303000	0.77524	0.650000	0.86243	CAG			0.612	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251677.2		NM_006051		T	139941994	G	T	139941994	3	4	76	1	0	0	0	0	1	0	0	0	762	1357	47	3	1071	3	APBB3	5	139941994	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	25329320	139941994	40973266	18	5418											
F12	2161	mdanderson.org	37	chr5	176831071	176831071	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcagggaaggcggctGctcccgcttcgccggcaagg	5	6	16	14	4	1	0	1	0	0	0	3	1	2	1	3	6	1	4	3	6	2	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr5:176831071G>A	ENST00000253496.3	-	10	1087	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	347	Pro-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GAAGGCGGCTGCTCCCGCTTC	0.721									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q347X													.	.			0			c.C1039T												10	14	13					5																	176831071		2143	4255	6398	SO:0001587	stop_gained	2161	exon10	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	GCGGCTGCTCCCG	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1039C>T	5.37:g.176831071G>A	ENSP00000253496:p.Gln347*		9	0	0	1934	24	0.13	3	NM_000505	4	0	0	P78339	Nonsense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564560	0.86439	.	.	ENSG00000131187	ENST00000253496	.	.	.	5.0	0.585	0.17428	.	2.791560	0.01523	N	0.018423	.	.	.	.	.	.	0.19575	N	0.999961	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1553	0.15031	0.0816:0.3971:0.386:0.1353	.	.	.	.	X	347	.	ENSP00000253496:Q347X	Q	-	1	0	F12	176763677	0.000000	0.05858	0.001000	0.08648	0.113000	0.19764	-0.134000	0.10436	0.174000	0.19809	0.561000	0.74099	CAG			0.721	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373217.1				A	176831071	G	A	176831071	4	1	76	1	0	0	0	0	0	1	0	0	5346	1328	46	2	828	2	F12	5	176831071	Nonsense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	36889077	176831071	4084189	19	5419											
MUC21	394263	hgsc.bcm.edu	37	chr6	30954728	30954728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacagccaccaactctgAgtccagcacgacctccagtg	10	5	9	17	2	1	1	0	1	1	0	3	2	3	1	5	1	3	2	5	1	1	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr6:30954728A>G	ENST00000376296.3	+	2	1017	c.776A>G	c.(775-777)gAg>gGg	p.E259G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	259	28 X 15 AA approximate tandem repeats.|Ser-rich.				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						ACCAACTCTGAGTCCAGCACG	0.617																																					p.E259G													MUC21,bladder,carcinoma,-1,1	MUC21	-1	1	0			c.A776G												142	144	143					6																	30954728		2203	4300	6503	SO:0001583	missense	394263	exon2			ACTCTGAGTCCAG	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.776A>G	6.37:g.30954728A>G	ENSP00000365473:p.Glu259Gly		35	0.0285714286	1		70	0.09	6	NM_001010909	0		0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.659396	0.29515	.	.	ENSG00000204544	ENST00000376296	T	0.01388	4.95	4.28	-0.938	0.10412	.	.	.	.	.	T	0.00328	0.0010	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42155	-0.9468	8	.	.	.	.	1.8519	0.03171	0.32:0.3592:0.2068:0.114	.	259	Q5SSG8	MUC21_HUMAN	G	259	ENSP00000365473:E259G	.	E	+	2	0	MUC21	31062707	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.354000	0.01089	-0.320000	0.08640	-0.655000	0.03904	GAG			0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909		G	30954728	A	G	30954728	3	3	76	1	0	0	0	0	1	0	0	0	9993	304	11	4	782	4	MUC21	6	30954728	Missense_Mutation	SNP	A	TCGA-2G-AALZ-01A-11D-A42Y-10		30954728	140160339	20	5420											
BAT3	7917	mdanderson.org	37	chr6	31608010	31608010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggcataccactgaggtagGcatcactcagagggggctgc	10	6	14	11	0	2	2	2	1	0	1	2	2	2	2	1	5	2	4	1	5	2	2			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr6:31608010G>A	ENST00000375964.6	-	23	3435	c.3122C>T	c.(3121-3123)gCc>gTc	p.A1041V	BAG6_ENST00000439687.2_Missense_Mutation_p.A861V|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Missense_Mutation_p.A1071V|BAG6_ENST00000211379.5_Missense_Mutation_p.A1035V|BAG6_ENST00000362049.6_Missense_Mutation_p.A1035V|BAG6_ENST00000375976.4_Missense_Mutation_p.A1035V	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1041					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ACTGAGGTAGGCATCACTCAG	0.517																																					p.A1041V													.	.			0			c.C3122T												81	79	80					6																	31608010		2203	4300	6503	SO:0001583	missense	7917	exon23			AGGTAGGCATCAC	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.3122C>T	6.37:g.31608010G>A	ENSP00000365131:p.Ala1041Val		72	0	0		77	0.05	4	NM_004639	611	0	1	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	CCDS47403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.106639|4.106639	0.77096|0.77096	.|.	.|.	ENSG00000204463|ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049|ENST00000422948;ENST00000441793	T;T;T;T;T;T|.	0.78595|.	-0.24;-0.3;-0.24;-0.28;-1.19;-0.25|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63331|0.63331	0.2502|0.2502	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;P;P;P|.	0.67145|.	0.996;0.51;0.626;0.57|.	P;B;B;B|.	0.61070|.	0.883;0.13;0.123;0.172|.	T|T	0.57100|0.57100	-0.7869|-0.7869	10|5	0.56958|.	D|.	0.05|.	.|.	18.6545|18.6545	0.91445|0.91445	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	861;1035;1041;1035|.	E7EMZ4;F8VXY4;P46379;P46379-2|.	.;.;BAG6_HUMAN;.|.	V|S	1035;1041;1035;1071;861;1035|94;184	ENSP00000365143:A1035V;ENSP00000365131:A1041V;ENSP00000211379:A1035V;ENSP00000384494:A1071V;ENSP00000402856:A861V;ENSP00000354875:A1035V|.	ENSP00000211379:A1035V|.	A|P	-|-	2|1	0|0	BAG6|BAG6	31715989|31715989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.792000|7.792000	0.85828|0.85828	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCT			0.517	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_080703		A	31608010	G	A	31608010	3	1	76	1	0	0	0	0	1	0	0	0	1322	1203	42	2	288	2	BAT3	6	31608010	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	653282	31608010	139507057	21	5421											
HLA-DMA	3108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	32917166	32917166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagatctgagggcagtgcGttccggggtactggaggaaa	10	7	17	7	2	1	2	0	1	1	1	2	4	2	4	1	5	3	4	1	5	2	2	rs371040586		TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr6:32917166G>A	ENST00000374843.4	-	4	748	c.663C>T	c.(661-663)aaC>aaT	p.N221N	HLA-DMA_ENST00000395303.3_Silent_p.N187N|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Silent_p.N126N	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	221	Connecting peptide. {ECO:0000255}.				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)	p.N221N(1)|p.A222S(1)		kidney(1)|large_intestine(2)|lung(8)	11						AGGGCAGTGCGTTCCGGGGTA	0.582													G|||	1	0.000199681	0	0	5008	,	,		19799	0		0	False		,,,				2504	0.001				p.N221N													HLA-DMA,NS,carcinoma,-1,2	HLA-DMA	-1	2	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)	c.C663T							G		1,4405	2.1+/-5.4	0,1,2202	74	69	71		663	-6.9	0	6		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HLA-DMA	NM_006120.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		221/262	32917166	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3108	exon4			CAGTGCGTTCCGG		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.663C>T	6.37:g.32917166G>A			65	0	0		66	0.17	11	NM_006120	632	0	3	Q29639|Q29640	Silent	SNP	ENST00000374843.4	37	CCDS4761.1																																																																																					0.582	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076325.2		NM_006120		A	32917166	G	A	32917166	2	1	76	1	0	0	0	0	0	0	0	1	7213	1136	40	1		1	HLA-DMA	6	32917166	Silent	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	1309156	32917166	138197901	22	5422											
ORC3L	23595	mdanderson.org	37	chr6	88313102	88313102	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttgtgtgttctttgtagCgactacaagaggaattaaat	11	17	9	4	1	1	1	0	0	1	1	1	3	1	2	0	1	2	2	0	1	6	7			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr6:88313102C>T	ENST00000392844.3	+	4	226	c.178C>T	c.(178-180)Cga>Tga	p.R60*	ORC3_ENST00000417380.2_Splice_Site_p.R7*|ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000257789.4_Splice_Site_p.R60*	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	60					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTCTTTGTAGCGACTACAAGA	0.313																																					p.R60X													.	.			0			c.C178T												26	27	27					6																	88313102		2201	4298	6499	SO:0001630	splice_region_variant	23595	exon4			TTGTAGCGACTAC	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.178-1C>T	6.37:g.88313102C>T			40	0	0		41	0.07	3	NM_012381	21	0	0	A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Nonsense_Mutation	SNP	ENST00000392844.3	37	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588181	0.46110	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000417380	.	.	.	5.52	1.27	0.21489	.	0.642666	0.14921	N	0.290665	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2098	7.1911	0.25826	0.2116:0.6067:0.1159:0.0658	.	.	.	.	X	60;60;7	.	.	R	+	1	2	ORC3	88369821	0.994000	0.37717	0.544000	0.28141	0.172000	0.22775	1.378000	0.34328	0.266000	0.21894	-0.188000	0.12872	CGA			0.313	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000041452.2			Nonsense_Mutation	T	88313102	C	T	88313102	5	4	76	1	0	0	0	0	0	0	1	0	11280	782	27	1	192	1	ORC3L	6	88313102	Splice_Site	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	55395936	88313102	82801965	23	5423											
MCM7	4176	mdanderson.org	37	chr7	99693551	99693551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccaggatggagcagcGggcattgagtgtggtgagaa	10	6	19	6	1	0	2	0	2	0	1	0	5	0	4	1	5	3	3	1	5	1	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr7:99693551G>T	ENST00000303887.5	-	11	2086	c.1441C>A	c.(1441-1443)Cgc>Agc	p.R481S	MCM7_ENST00000354230.3_Missense_Mutation_p.R305S|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000343023.6_Intron|MIR93_ENST00000385024.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	481	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|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)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|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)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGGAGCAGCGGGCATTGAGT	0.632																																					p.R481S													.	.			0			c.C1441A												99	86	90					7																	99693551		2203	4300	6503	SO:0001583	missense	4176	exon11			AGCAGCGGGCATT		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1441C>A	7.37:g.99693551G>T	ENSP00000307288:p.Arg481Ser		56	0	0		47	0.09	4	NM_005916	309	0.01	2	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028358	0.93518	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.12039	2.72;2.72	5.28	5.28	0.74379	ATPase, AAA+ type, core (1);	0.059515	0.64402	D	0.000001	T	0.56140	0.1965	H	0.98646	4.29	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.73836	-0.3857	10	0.87932	D	0	-15.6776	16.4558	0.84012	0.0:0.0:1.0:0.0	.	481	P33993	MCM7_HUMAN	S	481;418;374;305	ENSP00000307288:R481S;ENSP00000346171:R305S	ENSP00000307288:R481S	R	-	1	0	MCM7	99531487	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.595000	0.98260	2.738000	0.93877	0.655000	0.94253	CGC			0.632	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336534.3				T	99693551	G	T	99693551	3	4	76	1	0	0	0	0	1	0	0	0	9408	1116	39	1	738	1	MCM7	7	99693551	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		99693551	59445112	24	5424											
SSPO	23145	broad.mit.edu;mdanderson.org	37	chr7	149510874	149510874	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggctggcaaggcctgacGgctgcaaccactggtaaggg	8	6	15	12	2	0	1	0	1	0	0	1	1	0	1	2	6	2	5	2	6	3	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr7:149510874G>T	ENST00000378016.2	+	0	10159							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)			AAGGCCTGACGGCTGCAACCA	0.667																																					p.G3387C													.	.			0			c.G10159T												24	28	27					7																	149510874		2016	4170	6186			23145	exon71			CCTGACGGCTGCA	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.149510874G>T			28	0	0		36	0.08	3	NM_198455	1	0	0	Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						T	149510874	G	T	149510874	1	4	76	0	1	0	0	0	0	0	0	0	15212	1116	39	1		1	SSPO	7	149510874	RNA	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	49817323	149510874	9627789	25	5425											
CTSL2	1515	broad.mit.edu	37	chr9	99797977	99797977	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtacttacagatttcatccTtttaaagttaaagggggaga	13	14	9	5	0	1	2	1	0	0	2	2	3	2	2	1	2	2	2	1	2	6	6			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr9:99797977T>C	ENST00000259470.5	-	6	871		c.e6-2		CTSV_ENST00000479932.1_5'Flank|CTSV_ENST00000538255.1_Splice_Site	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										GATTTCATCCTTTTAAAGTTA	0.448																																					.													.	CTSL2	40		0			c.622-2A>G												48	44	46					9																	99797977		2203	4300	6503	SO:0001630	splice_region_variant	1515	exon7			TCATCCTTTTAAA	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"Cathepsins"	2538	protein-coding gene	gene with protein product		603308	"cathepsin L2"	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.622-2A>G	9.37:g.99797977T>C			60	0	0		66	0.05	3	NM_001333	0		0	O60233|Q2TB86|Q5T1U0	Splice_Site	SNP	ENST00000259470.5	37	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	t	15.69	2.908800	0.52439	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8908	0.46994	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTSL2	98837798	1.000000	0.71417	0.989000	0.46669	0.270000	0.26580	3.962000	0.56766	1.920000	0.55613	0.459000	0.35465	.			0.448	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053301.2		NM_001333	Intron	C	99797977	T	C	99797977	5	2	76	1	0	0	0	0	0	0	1	0	4041	1623	56	4	396	4	CTSL2	9	99797977	Splice_Site	SNP	T	TCGA-2G-AALZ-01A-11D-A42Y-10		99797977	41415454	26	5426											
GRIN3A	116443	mdanderson.org	37	chr9	104432598	104432598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtcaaaccaaatggaCtcttccattcatacagagtg	13	10	9	9	0	3	1	2	0	1	1	4	3	4	3	2	2	2	0	2	2	3	3			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr9:104432598C>A	ENST00000361820.3	-	3	2696	c.2096G>T	c.(2095-2097)aGt>aTt	p.S699I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	699					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)	ACCAAATGGACTCTTCCATTC	0.478																																					p.S699I													.	.			0			c.G2096T												126	132	130					9																	104432598		2203	4300	6503	SO:0001583	missense	116443	exon3			AATGGACTCTTCC		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.2096G>T	9.37:g.104432598C>A	ENSP00000355155:p.Ser699Ile		50	0	0		49	0.06	3	NM_133445	1	0	0	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614304	0.66672	.	.	ENSG00000198785	ENST00000361820	T	0.51574	0.7	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80999	-0.1131	10	0.87932	D	0	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	699	Q8TCU5	NMD3A_HUMAN	I	699	ENSP00000355155:S699I	ENSP00000355155:S699I	S	-	2	0	GRIN3A	103472419	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.956000	0.70315	2.714000	0.92807	0.580000	0.79431	AGT			0.478	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053453.1				A	104432598	C	A	104432598	3	1	76	1	0	0	0	0	1	0	0	0	6798	565	20	3	1279	3	GRIN3A	9	104432598	Missense_Mutation	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	4634621	104432598	36780833	27	5427											
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	114134001	114134001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctgttttgcaattgatGccatggcaattgcaccctgg	8	14	10	9	0	1	1	0	1	1	0	1	1	1	1	2	2	3	4	2	2	3	5			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr9:114134001G>A	ENST00000338205.5	-	42	4856	c.4637C>T	c.(4636-4638)gCa>gTa	p.A1546V	KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1724V|KIAA0368_ENST00000465499.1_5'Flank|KIAA0368_ENST00000374378.3_Missense_Mutation_p.A10V			Q5VYK3	ECM29_HUMAN	KIAA0368	1552					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGCAATTGATGCCATGGCAAT	0.483																																					p.A1724V													.	.			0			c.C5171T												171	162	165					9																	114134001		1889	4112	6001	SO:0001583	missense	23392	exon44			ATTGATGCCATGG	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4637C>T	9.37:g.114134001G>A	ENSP00000339889:p.Ala1546Val		110	0	0		93	0.06	6	NM_001080398	96	0.22	21	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	G	19.79	3.892316	0.72524	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000374383;ENST00000543827;ENST00000374378	T;T	0.67171	-0.25;-0.25	5.73	4.83	0.62350	.	0.056173	0.64402	D	0.000001	T	0.65491	0.2696	M	0.64997	1.995	0.48511	D	0.999667	B	0.21753	0.06	B	0.23150	0.044	T	0.62435	-0.6855	10	0.38643	T	0.18	.	16.212	0.82168	0.0:0.0:0.866:0.134	.	1021	B3KXF2	.	V	1546;1724;10;1021;10	ENSP00000259335:A1724V;ENSP00000363499:A10V	ENSP00000259335:A1724V	A	-	2	0	KIAA0368	113173822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	1.398000	0.46701	0.655000	0.94253	GCA			0.483	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000053637.2		NM_014686		A	114134001	G	A	114134001	3	1	76	1	0	0	0	0	1	0	0	0	8186	1319	46	2	914	2	KIAA0368	9	114134001	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	9701403	114134001	27079430	28	5428											
COBRA1	25920	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	140150039	140150039	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccaactgcacggagccGctcaaggccatcgagcagtt	10	6	11	14	3	1	1	1	1	0	0	2	3	1	2	3	2	4	4	3	2	2	1	rs201291926	byFrequency	TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr9:140150039G>A	ENST00000343053.4	+	1	415	c.78G>A	c.(76-78)ccG>ccA	p.P26P		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	26					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)											GCACGGAGCCGCTCAAGGCCA	0.756																																					p.P26P													.	.			0			c.G78A												15	14	14					9																	140150039		2043	4024	6067	SO:0001819	synonymous_variant	25920	exon1			GGAGCCGCTCAAG	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.78G>A	9.37:g.140150039G>A			75	0	0		57	0.09	5	NM_015456	106	0	0	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	ENST00000343053.4	37	CCDS7040.1																																																																																					0.756	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254710.1		NM_015456		A	140150039	G	A	140150039	2	1	76	1	0	0	0	0	0	0	0	1	3657	1074	38	1		1	COBRA1	9	140150039	Silent	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	26016038	140150039	1063392	29	5429											
C10orf27	219793	broad.mit.edu	37	chr10	72541683	72541683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaatgcccggcggatccGctcgaaatccacaatccctg	9	7	8	17	4	1	0	1	0	0	0	5	2	4	1	5	2	1	1	5	2	3	0	rs199669673		TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr10:72541683G>A	ENST00000299290.1	-	4	540	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	TBATA_ENST00000456372.2_Missense_Mutation_p.R51W|TBATA_ENST00000545575.1_Missense_Mutation_p.R41W	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	51					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R51R(2)									CGGCGGATCCGCTCGAAATCC	0.597																																					p.R51W													C10orf27,colon,carcinoma,0,2	.		2	2	Substitution - coding silent(2)	lung(2)	c.C151T							G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	125	121	122		151	2.3	0	10		122	0,8600		0,0,4300	no	missense	C10orf27	NM_152710.2	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	51/352	72541683	3,13003	2203	4300	6503	SO:0001583	missense	219793	exon4			GGATCCGCTCGAA	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"chromosome 10 open reading frame 27"	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.151C>T	10.37:g.72541683G>A	ENSP00000299290:p.Arg51Trp		134	0	0		136	0.03	4	NM_152710	0		0	A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466959	0.43839	6.81E-4	0.0	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T	0.44482	0.92	5.39	2.33	0.28932	.	1.641390	0.03486	N	0.215824	T	0.50463	0.1617	N	0.22421	0.69	0.09310	N	1	D;D;D;P;D;P	0.76494	0.995;0.999;0.971;0.924;0.982;0.924	P;D;P;B;P;B	0.65233	0.533;0.933;0.471;0.292;0.533;0.292	T	0.42799	-0.9430	10	0.66056	D	0.02	0.0	8.9934	0.36037	0.0:0.3388:0.5093:0.152	.	40;40;51;51;41;51	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;B7Z8I8;Q96M53	.;.;.;.;.;SPATL_HUMAN	W	51;38;51;41	ENSP00000299290:R51W	ENSP00000299290:R51W	R	-	1	2	C10orf27	72211689	0.021000	0.18746	0.008000	0.14137	0.117000	0.20001	0.698000	0.25571	0.263000	0.21812	0.591000	0.81541	CGG			0.597	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048519.1		NM_152710		A	72541683	G	A	72541683	3	1	76	1	0	0	0	0	1	0	0	0	1602	1086	38	1	936	1	C10orf27	10	72541683	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		72541683	62993064	30	5430											
IFIT3	3437	mdanderson.org	37	chr10	91099835	91099835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatgggccagggcgcaGtcagctccagtcccagagag	11	4	15	11	1	1	1	1	0	0	1	3	3	3	2	3	3	1	2	3	3	1	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr10:91099835G>A	ENST00000371818.4	+	2	1603	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.V475I|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	475					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CCAGGGCGCAGTCAGCTCCAG	0.552																																					p.V475I													.	.			0			c.G1423A												61	65	64					10																	91099835		2203	4300	6503	SO:0001583	missense	3437	exon2			GGCGCAGTCAGCT	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1423G>A	10.37:g.91099835G>A	ENSP00000360883:p.Val475Ile		48	0	0		42	0.07	3	NM_001031683	98	0	0	Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651366	0.29336	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.11821	2.74;2.74	4.75	-1.85	0.07784	.	1.078650	0.07297	N	0.873453	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B	0.22604	0.072	B	0.16289	0.015	T	0.41840	-0.9486	10	0.22109	T	0.4	0.104	3.9742	0.09467	0.0824:0.124:0.2789:0.5147	.	475	O14879	IFIT3_HUMAN	I	475;475;296	ENSP00000360883:V475I;ENSP00000360876:V475I	ENSP00000360876:V475I	V	+	1	0	IFIT3	91089815	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.490000	0.06482	-0.305000	0.08831	0.655000	0.94253	GTC			0.552	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049294.1		NM_001549		A	91099835	G	A	91099835	3	1	76	1	0	0	0	0	1	0	0	0	7539	1029	36	3	1438	3	IFIT3	10	91099835	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	18558152	91099835	44434912	31	5431											
RRP12	23223	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr10	99126540	99126540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctcctcctcctcctcCtcttcttcctcctccacggc	1	13	4	23	1	2	0	0	0	2	0	11	0	11	0	9	2	0	1	9	2	0	2			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr10:99126540C>T	ENST00000370992.4	-	27	3285	c.3174G>A	c.(3172-3174)gaG>gaA	p.E1058E	RRP12_ENST00000536831.1_Silent_p.E776E|RRP12_ENST00000414986.1_Silent_p.E997E|RRP12_ENST00000315563.6_Silent_p.E958E|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1058	Glu-rich.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		cctcctcctcctcttcttcct	0.662																																					p.E1058E													.	.			0			c.G3174A												94	108	103					10																	99126540		2203	4300	6503	SO:0001819	synonymous_variant	23223	exon27			CTCCTCCTCTTCT		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3174G>A	10.37:g.99126540C>T			45	0	0		57	0.11	6	NM_015179	20	0	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																					0.662	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049699.4		NM_015179		T	99126540	C	T	99126540	2	4	76	1	0	0	0	0	0	0	0	1	13709	680	24	3		3	RRP12	10	99126540	Silent	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	8026705	99126540	36408207	32	5432											
PKD2L1	9033	mdanderson.org	37	chr10	102059351	102059351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagatcttatactcacatcCcagaagtccgccatgctgct	12	10	6	13	1	2	2	1	0	1	2	4	2	4	2	3	0	3	2	3	0	4	2			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr10:102059351C>A	ENST00000318222.3	-	3	856	c.474G>T	c.(472-474)tgG>tgT	p.W158C	PKD2L1_ENST00000353274.3_Missense_Mutation_p.W158C|PKD2L1_ENST00000338519.3_Missense_Mutation_p.W158C	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	158					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TACTCACATCCCAGAAGTCCG	0.478																																					p.W158C													.	.			0			c.G474T												96	89	92					10																	102059351		2203	4300	6503	SO:0001583	missense	9033	exon3			CACATCCCAGAAG	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.474G>T	10.37:g.102059351C>A	ENSP00000325296:p.Trp158Cys		56	0	0		37	0.08	3	NM_016112	0		0	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463764	0.84425	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.73258	-0.73;-0.73;-0.73	5.31	5.31	0.75309	Polycystin cation channel, PKD1/PKD2 (1);	0.058088	0.85682	D	0.000000	D	0.86973	0.6062	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.89390	0.3688	10	0.87932	D	0	-17.1173	17.9675	0.89103	0.0:1.0:0.0:0.0	.	111;158	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	C	158	ENSP00000345068:W158C;ENSP00000266049:W158C;ENSP00000325296:W158C	ENSP00000325296:W158C	W	-	3	0	PKD2L1	102049341	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.739000	0.68622	2.480000	0.83734	0.555000	0.69702	TGG			0.478	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049863.2		NM_016112		A	102059351	C	A	102059351	3	1	76	1	0	0	0	0	1	0	0	0	11984	624	22	3	1999	3	PKD2L1	10	102059351	Missense_Mutation	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	2932811	102059351	33475396	33	5433											
NFKB2	4791	mdanderson.org	37	chr10	104159451	104159451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagcgccacctgctgaCggcgcaggacgagaacggag	10	2	17	12	5	0	2	0	1	0	1	0	6	0	5	2	4	3	2	2	4	1	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr10:104159451C>T	ENST00000369966.3	+	14	1695	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M	NFKB2_ENST00000189444.6_Missense_Mutation_p.T482M|NFKB2_ENST00000428099.1_Missense_Mutation_p.T482M|NFKB2_ENST00000336486.5_3'UTR	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	482					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CACCTGCTGACGGCGCAGGAC	0.741			T	IGH@	B-NHL																																p.T482M				Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	.			0			c.C1445T												4	6	6					10																	104159451		1647	3329	4976	SO:0001583	missense	4791	exon13			TGCTGACGGCGCA	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1445C>T	10.37:g.104159451C>T	ENSP00000358983:p.Thr482Met		14	0	0		22	0.09	2	NM_001261403	44	0	0	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035724	0.35893	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.39787	1.06;1.06;1.06	4.24	1.07	0.20283	Ankyrin repeat-containing domain (1);	0.437109	0.23768	N	0.044746	T	0.13457	0.0326	N	0.00926	-1.1	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.22521	-1.0214	10	0.45353	T	0.12	.	6.9399	0.24486	0.0:0.6789:0.1457:0.1754	.	482;482	Q00653;A8K9D9	NFKB2_HUMAN;.	M	482	ENSP00000410256:T482M;ENSP00000358983:T482M;ENSP00000189444:T482M	ENSP00000189444:T482M	T	+	2	0	NFKB2	104149441	0.797000	0.28877	0.563000	0.28383	0.979000	0.70002	1.236000	0.32683	0.530000	0.28619	0.511000	0.50034	ACG			0.741	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000050080.2				T	104159451	C	T	104159451	3	4	76	1	0	0	0	0	1	0	0	0	10393	536	19	1	1495	1	NFKB2	10	104159451	Missense_Mutation	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	2100100	104159451	31375296	34	5434											
CYP17A1	1586	mdanderson.org	37	chr10	104591290	104591290	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaactgatccggctggtgCcactccttctcattgtgatg	7	13	10	11	1	1	3	1	3	1	0	4	3	3	3	3	2	2	1	3	2	1	2			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr10:104591290C>T	ENST00000369887.3	-	7	1389	c.1218G>A	c.(1216-1218)tgG>tgA	p.W406*	CYP17A1_ENST00000489268.1_5'Flank|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	406			W -> R (in AH5). {ECO:0000269|PubMed:14671162}.		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)	CCGGCTGGTGCCACTCCTTCT	0.577																																					p.W406X													.	.			0			c.G1218A												137	99	112					10																	104591290		2203	4300	6503	SO:0001587	stop_gained	1586	exon7			CTGGTGCCACTCC	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.1218G>A	10.37:g.104591290C>T	ENSP00000358903:p.Trp406*		65	0	0		45	0.07	3	NM_000102	108	0	0	Q5TZV7	Nonsense_Mutation	SNP	ENST00000369887.3	37	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	C	36	5.852426	0.97030	.	.	ENSG00000148795	ENST00000369887	.	.	.	5.02	5.02	0.67125	.	0.058609	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2957	0.90145	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000358903:W406X	W	-	3	0	CYP17A1	104581280	1.000000	0.71417	0.932000	0.37286	0.500000	0.33767	6.975000	0.76128	2.487000	0.83934	0.484000	0.47621	TGG			0.577	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050101.1		NM_000102		T	104591290	C	T	104591290	4	4	76	1	0	0	0	0	0	1	0	0	4149	740	26	2	316	2	CYP17A1	10	104591290	Nonsense_Mutation	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	431839	104591290	30943457	35	5435											
C10orf81	79949	mdanderson.org	37	chr10	115528592	115528592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggagaagattaaagactgGgtctccttcatgtcatcatt	12	12	10	7	0	4	3	3	0	1	3	5	4	4	3	1	2	0	0	1	2	3	3	rs559395228		TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr10:115528592G>T	ENST00000369310.3	+	5	922	c.360G>T	c.(358-360)tgG>tgT	p.W120C	PLEKHS1_ENST00000369309.1_5'Flank|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.W38C|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.W126C	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.																TTAAAGACTGGGTCTCCTTCA	0.403																																					p.W126C													.	.			0			c.G378T												127	118	121					10																	115528592		2203	4300	6503	SO:0001583	missense	79949	exon6			AGACTGGGTCTCC	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.360G>T	10.37:g.115528592G>T	ENSP00000358316:p.Trp120Cys		33	0	0		46	0.07	3	NM_024889	0		0	A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758854	0.69763	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.31247	1.5;1.5;1.5	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	M	0.90595	3.13	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	T	0.70850	-0.4760	10	0.87932	D	0	-13.7519	16.7398	0.85456	0.0:0.0:1.0:0.0	.	120;120;126	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	C	126;38;120	ENSP00000354332:W126C;ENSP00000358318:W38C;ENSP00000358316:W120C	ENSP00000354332:W126C	W	+	3	0	C10orf81	115518582	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.294000	0.65687	2.791000	0.96007	0.655000	0.94253	TGG			0.403	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000050432.1		NM_024889		T	115528592	G	T	115528592	3	4	76	1	0	0	0	0	1	0	0	0	1621	1241	43	3	396	3	C10orf81	10	115528592	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	10937302	115528592	20006155	36	5436											
MUC2	4583	mdanderson.org	37	chr11	1092900	1092900	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacggtgaccccaaccccAacacccaccggcacacagac	13	1	6	21	2	0	2	0	1	0	1	0	2	0	2	7	2	2	1	7	2	2	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr11:1092900A>T	ENST00000441003.2	+	30	4746	c.4719A>T	c.(4717-4719)ccA>ccT	p.P1573P	MUC2_ENST00000359061.5_Silent_p.P1574P|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccccaaccccaacacccaccg	0.637																																					p.P1573P													.	.			0			c.A4719T												104	146	131					11																	1092900		1954	3639	5593	SO:0001819	synonymous_variant	4583	exon30			AACCCCAACACCC	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.4719A>T	11.37:g.1092900A>T			29	0.0344827586	1		30	0.17	5	NM_002457	0		0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1092900	A	T	1092900	2	4	76	1	0	0	0	0	0	0	0	1	9991	117	5	5		5	MUC2	11	1092900	Silent	SNP	A	TCGA-2G-AALZ-01A-11D-A42Y-10		1092900	133913616	37	5437											
C11orf46	120534	mdanderson.org	37	chr11	30354428	30354428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagggaagaactgctaaaGctttgaggtcattacaattt	13	13	9	6	0	2	2	2	1	0	1	2	3	2	3	0	2	4	2	0	2	6	5			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr11:30354428G>T	ENST00000282032.3	+	3	657	c.442G>T	c.(442-444)Gct>Tct	p.A148S	ARL14EP_ENST00000533457.1_3'UTR	NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	148						cytoplasm (GO:0005737)											AACTGCTAAAGCTTTGAGGTC	0.343																																					p.A148S													.	.			0			c.G442T												72	73	73					11																	30354428		2202	4299	6501	SO:0001583	missense	120534	exon3			GCTAAAGCTTTGA	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.442G>T	11.37:g.30354428G>T	ENSP00000282032:p.Ala148Ser		48	0	0		36	0.08	3	NM_152316	74	0.01	1	Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973919	0.74246	.	.	ENSG00000152219	ENST00000282032;ENST00000530909	T	0.62498	0.02	5.38	5.38	0.77491	.	0.197691	0.42294	D	0.000738	T	0.72244	0.3436	L	0.46157	1.445	0.48571	D	0.99967	D	0.61697	0.99	D	0.70935	0.971	T	0.63945	-0.6522	10	0.12103	T	0.63	-26.1873	19.4956	0.95070	0.0:0.0:1.0:0.0	.	148	Q8N8R7	CK046_HUMAN	S	148	ENSP00000282032:A148S	ENSP00000282032:A148S	A	+	1	0	C11orf46	30311004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.336000	0.72954	2.693000	0.91896	0.655000	0.94253	GCT			0.343	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388129.1		NM_152316		T	30354428	G	T	30354428	3	4	76	1	0	0	0	0	1	0	0	0	1645	971	34	2	448	2	C11orf46	11	30354428	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	29261528	30354428	104652088	38	5438											
MAP3K11	4296	broad.mit.edu	37	chr11	65375896	65375896	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgctccatgtcgtcacTctcaatgggctgcagcagca	7	11	10	13	1	2	0	2	0	1	0	5	0	3	0	1	1	4	5	1	1	1	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr11:65375896T>C	ENST00000309100.3	-	2	1248	c.763A>G	c.(763-765)Agt>Ggt	p.S255G	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000530153.1_5'UTR|MAP3K11_ENST00000532507.1_5'Flank	NM_002419.3	NP_002410.1			mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						ATGTCGTCACTCTCAATGGGC	0.567																																					p.S255G													.	MAP3K11	67		0			c.A763G												76	62	67					11																	65375896		2201	4297	6498	SO:0001583	missense	4296	exon2			CGTCACTCTCAAT		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000309100.3:c.763A>G	11.37:g.65375896T>C	ENSP00000309597:p.Ser255Gly		139	0	0		133	0.03	4	NM_002419	107	0	0		Missense_Mutation	SNP	ENST00000309100.3	37	CCDS8107.1	.	.	.	.	.	.	.	.	.	.	C	9.511	1.105677	0.20632	.	.	ENSG00000173327	ENST00000309100;ENST00000526293	D;T	0.93426	-3.22;-1.4	4.75	4.75	0.60458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.128650	0.53938	N	0.000053	D	0.83857	0.5345	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76160	-0.3061	10	0.23891	T	0.37	.	7.3497	0.26684	0.0:0.8079:0.0:0.1921	.	255	Q16584	M3K11_HUMAN	G	255;5	ENSP00000309597:S255G;ENSP00000435970:S5G	ENSP00000309597:S255G	S	-	1	0	MAP3K11	65132472	0.561000	0.26578	0.982000	0.44146	0.974000	0.67602	1.144000	0.31565	1.251000	0.43983	-0.215000	0.12644	AGT			0.567	MAP3K11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390209.3				C	65375896	T	C	65375896	3	2	76	1	0	0	0	0	1	0	0	0	9261	1551	54	4	1816	4	MAP3K11	11	65375896	Missense_Mutation	SNP	T	TCGA-2G-AALZ-01A-11D-A42Y-10	35021468	65375896	69630620	39	5439											
RIN1	9610	mdanderson.org	37	chr11	66100214	66100214	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatcctgataggctactcGgaggaggtgctatgcaggag	9	8	17	7	1	0	1	0	1	0	0	2	5	1	5	1	6	3	3	1	6	3	3			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr11:66100214G>T	ENST00000311320.4	-	10	2011	c.1885C>A	c.(1885-1887)Cga>Aga	p.R629R	RIN1_ENST00000530056.1_Silent_p.R463R|RIN1_ENST00000524804.1_5'UTR|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Silent_p.R524R	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	629	Ras and 14-3-3 protein binding region.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TAGGCTACTCGGAGGAGGTGC	0.587																																					p.R629R													RIN1,bladder,carcinoma,+1,1	RIN1	1	1	0			c.C1885A												65	72	69					11																	66100214		2192	4265	6457	SO:0001819	synonymous_variant	9610	exon10			CTACTCGGAGGAG	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1885C>A	11.37:g.66100214G>T			20	0	0		18	0.11	2	NM_004292	50	0	0	O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																					0.587	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392980.2		NM_004292		T	66100214	G	T	66100214	2	4	76	1	0	0	0	0	0	0	0	1	13394	1124	39	1		1	RIN1	11	66100214	Silent	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	724318	66100214	68906302	40	5440											
POLD3	10714	mdanderson.org	37	chr11	74322571	74322571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgcagtagtgagagaaGataaattggaaggtaagtgt	15	10	15	1	0	0	3	0	1	0	2	0	5	0	4	0	3	1	4	0	3	6	5			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr11:74322571G>T	ENST00000263681.2	+	4	376	c.247G>T	c.(247-249)Gat>Tat	p.D83Y	POLD3_ENST00000527458.1_Missense_Mutation_p.D44Y|POLD3_ENST00000532497.1_5'UTR	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	83					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|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)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AGTGAGAGAAGATAAATTGGA	0.348																																					p.D83Y													.	.			0			c.G247T												163	171	168					11																	74322571		2200	4293	6493	SO:0001583	missense	10714	exon4			AGAGAAGATAAAT	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.247G>T	11.37:g.74322571G>T	ENSP00000263681:p.Asp83Tyr		49	0	0		45	0.07	3	NM_006591	7	0	0	B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325528	0.81580	.	.	ENSG00000077514	ENST00000528481;ENST00000263681;ENST00000527458;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	6.07	6.07	0.98685	.	0.154299	0.56097	D	0.000022	T	0.79387	0.4437	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.78061	-0.2351	9	0.48119	T	0.1	-25.2324	18.1531	0.89682	0.0:0.0:1.0:0.0	.	83	Q15054	DPOD3_HUMAN	Y	44;83;44;83;44;44	.	ENSP00000263681:D83Y	D	+	1	0	POLD3	74000219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.741000	0.91583	2.885000	0.99019	0.655000	0.94253	GAT			0.348	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385376.1		NM_006591		T	74322571	G	T	74322571	3	4	76	1	0	0	0	0	1	0	0	0	12209	942	33	3	261	3	POLD3	11	74322571	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	8222357	74322571	60683945	41	5441											
ZNF384	171017	mdanderson.org	37	chr12	6777083	6777083	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgttgctgctgctgctGctgctgctgctgctgctgct	0	15	14	12	0	0	0	0	0	0	0	0	0	0	0	0	1	11	13	0	1	0	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr12:6777083G>A	ENST00000396801.3	-	11	1738	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	RP4-761J14.8_ENST00000589924.1_RNA|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396795.1_Nonsense_Mutation_p.Q450*|ZNF384_ENST00000361959.3_Nonsense_Mutation_p.Q511*|ZNF384_ENST00000355772.4_Nonsense_Mutation_p.Q395*|ZNF384_ENST00000319770.3_Nonsense_Mutation_p.Q434*|ZNF384_ENST00000396799.2_Nonsense_Mutation_p.Q450*	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	511	Gln-rich.				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						tgctgctgctgctgctgctgc	0.677			T	"EWSR1, TAF15 "	ALL																																p.Q511X				Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	.	.			0			c.C1531T												14	18	17					12																	6777083		2198	4288	6486	SO:0001587	stop_gained	171017	exon11			GCTGCTGCTGCTG	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.1531C>T	12.37:g.6777083G>A	ENSP00000380019:p.Gln511*		44	0	0		49	0.06	3	NM_001135734	76	0.04	3	O15407|Q7Z722|Q8N938	Nonsense_Mutation	SNP	ENST00000396801.3	37	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435217	0.83885	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	.	.	.	3.35	3.35	0.38373	.	0.423027	0.21610	N	0.071814	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-2.0395	12.1303	0.53940	0.0:0.0:1.0:0.0	.	.	.	.	X	434;450;511;511;395;450	.	ENSP00000321650:Q434X	Q	-	1	0	ZNF384	6647344	1.000000	0.71417	0.978000	0.43139	0.395000	0.30598	3.710000	0.54860	1.622000	0.50330	0.579000	0.79373	CAG			0.677	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400712.1				A	6777083	G	A	6777083	4	1	76	1	0	0	0	0	0	1	0	0	17898	1328	46	2	206	2	ZNF384	12	6777083	Nonsense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		6777083	127074812	42	5442											
MLL2	8085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49420275	49420275	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcttcacctcgtcccgCtcaatgtagacccgccggaa	8	10	8	15	4	2	1	2	0	0	1	4	2	3	2	4	1	1	3	4	1	3	3			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr12:49420275C>T	ENST00000301067.7	-	48	15473	c.15474G>A	c.(15472-15474)gaG>gaA	p.E5158E		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5158					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTCGTCCCGCTCAATGTAGA	0.562																																					p.E5158E													.	.			0			c.G15474A												62	63	63					12																	49420275		2089	4201	6290	SO:0001819	synonymous_variant	8085	exon48			GTCCCGCTCAATG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15474G>A	12.37:g.49420275C>T			55	0	0		65	0.22	14	NM_003482	30	0.03	1	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																					0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390183.2				T	49420275	C	T	49420275	2	4	76	1	0	0	0	0	0	0	0	1	9637	796	28	2		2	MLL2	12	49420275	Silent	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	42643192	49420275	84431620	43	5443											
LRP1	4035	mdanderson.org	37	chr12	57567646	57567646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagaactgcgagtccctgGcctgcaggccaccctcgcac	8	5	12	16	2	0	1	0	0	0	1	2	3	1	1	4	3	3	2	4	3	1	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr12:57567646G>T	ENST00000243077.3	+	22	3896	c.3430G>T	c.(3430-3432)Gcc>Tcc	p.A1144S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1144	LDL-receptor class A 10. {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)	CGAGTCCCTGGCCTGCAGGCC	0.607																																					p.A1144S													.	.			0			c.G3430T												190	141	158					12																	57567646		2203	4300	6503	SO:0001583	missense	4035	exon22			TCCCTGGCCTGCA	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.3430G>T	12.37:g.57567646G>T	ENSP00000243077:p.Ala1144Ser		61	0	0		77	0.05	4	NM_002332	30	0	0	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404708	0.83230	.	.	ENSG00000123384	ENST00000243077	D	0.95412	-3.7	5.03	5.03	0.67393	.	0.190213	0.31821	N	0.007006	D	0.89894	0.6847	N	0.16862	0.45	0.80722	D	1	B	0.27625	0.183	B	0.28385	0.089	D	0.86724	0.1944	10	0.08599	T	0.76	.	17.2939	0.87164	0.0:0.0:1.0:0.0	.	1144	Q07954	LRP1_HUMAN	S	1144	ENSP00000243077:A1144S	ENSP00000243077:A1144S	A	+	1	0	LRP1	55853913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.138000	0.50570	2.619000	0.88677	0.491000	0.48974	GCC			0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412772.2		NM_002332		T	57567646	G	T	57567646	3	4	76	1	0	0	0	0	1	0	0	0	8967	1203	42	2	3516	2	LRP1	12	57567646	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	8147371	57567646	76284249	44	5444											
TMTC3	160418	mdanderson.org	37	chr12	88568462	88568462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaacattccacagaaattgGgattgggagtctgaatatac	16	10	9	6	0	1	2	0	1	1	1	2	4	2	4	1	2	2	0	1	2	6	5			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr12:88568462G>T	ENST00000266712.6	+	9	1498	c.1278G>T	c.(1276-1278)tgG>tgT	p.W426C		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	426					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ACAGAAATTGGGATTGGGAGT	0.343																																					p.W426C													.	.			0			c.G1278T												130	118	122					12																	88568462		2203	4299	6502	SO:0001583	missense	160418	exon9			AAATTGGGATTGG		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1278G>T	12.37:g.88568462G>T	ENSP00000266712:p.Trp426Cys		52	0	0		116	0.04	5	NM_181783	2	0	0	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064851	0.76187	.	.	ENSG00000139324	ENST00000266712	T	0.40225	1.04	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.63793	0.918	T	0.57225	-0.7848	10	0.39692	T	0.17	-4.545	19.8576	0.96767	0.0:0.0:1.0:0.0	.	426	Q6ZXV5-2	.	C	426	ENSP00000266712:W426C	ENSP00000266712:W426C	W	+	3	0	TMTC3	87092593	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.297000	0.96120	2.696000	0.92011	0.655000	0.94253	TGG			0.343	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406421.1		NM_181783		T	88568462	G	T	88568462	3	4	76	1	0	0	0	0	1	0	0	0	16285	1241	43	3	1308	3	TMTC3	12	88568462	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	31000816	88568462	45283433	45	5445											
CHFR	55743	broad.mit.edu	37	chr12	133435706	133435707	+	In_Frame_Ins	INS	-	-	CAT																															atgcatgtcagcgtctcctcINScatcttgtctggcttcccag																										TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr12:133435706_133435707insCAT	ENST00000432561.2	-	8	967_968	c.894_895insATG	c.(892-897)atggag>atgATGgag	p.298_299insM	CHFR_ENST00000315585.7_In_Frame_Ins_p.257_258insM|CHFR_ENST00000266880.7_In_Frame_Ins_p.298_299insM|CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000541837.2_De_novo_Start_OutOfFrame|CHFR_ENST00000443047.2_In_Frame_Ins_p.206_207insM|CHFR_ENST00000450056.2_In_Frame_Ins_p.286_287insM			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	298					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		AGCGTCTCCTCCATCTTGTCTG	0.594																																					p.E299delinsME													.	CHFR	83		0			c.895_896insATG																																									SO:0001652	inframe_insertion	0	exon8			TCTCCTCCATCTT	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.892_894dupATG	12.37:g.133435707_133435709dupCAT	ENSP00000392395:p.Met298_Met298dup		65	0	0		103	0.07	7	NM_001161345	31	0	0	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Translation_Start_Site	INS	ENST00000432561.2	37	CCDS53849.1																																																																																					0.594	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397130.2				CAT	133435707	-	CAT	133435706	7	5	76	1	0	1	1	0	0	0	0	0	3339	864	30	0	1143	0	CHFR	12	133435706	In_Frame_Ins	INS	-	TCGA-2G-AALZ-01A-11D-A42Y-10	44867244	133435706	416189	46	5446											
APEX1	328	broad.mit.edu	37	chr14	20923824	20923824	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgccgaagcgtgggaaaaAgggagcggtggcggaagacg	13	3	19	6	5	0	1	0	0	0	1	0	5	0	4	1	5	3	0	1	5	5	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr14:20923824A>G	ENST00000216714.3	+	2	288	c.20A>G	c.(19-21)aAg>aGg	p.K7R	OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000557365.1_Intron|APEX1_ENST00000555414.1_Missense_Mutation_p.K7R|APEX1_ENST00000398030.4_Missense_Mutation_p.K7R|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Missense_Mutation_p.K7R	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	7	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CGTGGGAAAAAGGGAGCGGTG	0.562								Other BER factors																													p.K7R													.	APEX1	23		0			c.A20G												112	102	105					14																	20923824		2203	4300	6503	SO:0001583	missense	328	exon2			GGAAAAAGGGAGC	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.20A>G	14.37:g.20923824A>G	ENSP00000216714:p.Lys7Arg		97	0.0103092784	1		106	0.04	4	NM_080648	274	0	1	Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266405	0.80358	.	.	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000553681;ENST00000557344;ENST00000398030;ENST00000557181;ENST00000555839;ENST00000556054	T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;0.31;-0.16;-0.4;0.38;-0.15;0.28	5.89	5.89	0.94794	.	0.048492	0.85682	N	0.000000	T	0.56920	0.2018	L	0.38175	1.15	0.80722	D	1	P	0.47762	0.9	B	0.40677	0.337	T	0.60094	-0.7330	10	0.44086	T	0.13	.	12.6954	0.57001	1.0:0.0:0.0:0.0	.	7	P27695	APEX1_HUMAN	R	7	ENSP00000451979:K7R;ENSP00000216714:K7R;ENSP00000451327:K7R;ENSP00000452137:K7R;ENSP00000381111:K7R;ENSP00000452304:K7R;ENSP00000452460:K7R;ENSP00000451170:K7R	ENSP00000216714:K7R	K	+	2	0	APEX1	19993664	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.007000	0.49536	2.251000	0.74343	0.533000	0.62120	AAG			0.562	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000073641.3		NM_001641		G	20923824	A	G	20923824	3	3	76	1	0	0	0	0	1	0	0	0	769	72	3	4	22	4	APEX1	14	20923824	Missense_Mutation	SNP	A	TCGA-2G-AALZ-01A-11D-A42Y-10		20923824	86425716	47	5447											
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu	37	chr14	105409580	105409580	+	Frame_Shift_Del	DEL	G	G	-																															ggggcccttaacatctatctGggggcccttgaggtccactt																										TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr14:105409580delG	ENST00000333244.5	-	7	12327	c.12208delC	c.(12208-12210)cagfs	p.Q4070fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4070						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)			ACATCTATCTGGGGGCCCTTG	0.612																																					p.Q4070fs													.	.			0			c.12209delA												144	150	148					14																	105409580		1828	4073	5901	SO:0001589	frameshift_variant	113146	exon7			CTATCTGGGGGCC	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.12208delC	14.37:g.105409580delG	ENSP00000353114:p.Gln4070fs		126	0	0		170	0.06	11	NM_138420	2	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	CCDS45177.1																																																																																					0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420		-	105409580	G	-	105409580	7	5	76	1	0	1	0	1	0	0	0	0	415	1357	47	0	5183	0	AHNAK2	14	105409580	Frame_Shift_Del	DEL	G	TCGA-2G-AALZ-01A-11D-A42Y-10	84485756	105409580	1939960	48	5448											
GPR176	11245	mdanderson.org	37	chr15	40093937	40093937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaaagagaacagggtttGccagcagggagactttgggc	13	7	15	6	0	0	3	0	0	0	3	0	5	0	3	1	3	3	2	1	3	3	3			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr15:40093937G>T	ENST00000561100.1	-	3	1809	c.944C>A	c.(943-945)gCa>gAa	p.A315E	GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000299092.3_Missense_Mutation_p.A314E|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000543580.1_Missense_Mutation_p.A270E	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	315					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AACAGGGTTTGCCAGCAGGGA	0.532											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A315E													.	.			0			c.C944A												77	74	75					15																	40093937		2203	4300	6503	SO:0001583	missense	11245	exon3			GGGTTTGCCAGCA	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.944C>A	15.37:g.40093937G>T	ENSP00000453076:p.Ala315Glu		43	0	0	890	45	0.07	3	NM_007223	15	0	0	Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542186	0.85917	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.38560	1.13	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.049206	0.85682	D	0.000000	T	0.48804	0.1520	L	0.29908	0.895	0.47547	D	0.999454	P	0.44521	0.837	P	0.52267	0.694	T	0.27706	-1.0066	10	0.44086	T	0.13	-25.0205	20.6634	0.99662	0.0:0.0:1.0:0.0	.	315	Q14439	GP176_HUMAN	E	315;270	ENSP00000439361:A270E	ENSP00000299092:A315E	A	-	2	0	GPR176	37881229	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.827000	0.86722	2.894000	0.99253	0.655000	0.94253	GCA			0.532	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252117.2		NM_007223		T	40093937	G	T	40093937	3	4	76	1	0	0	0	0	1	0	0	0	6687	1319	46	2	607	2	GPR176	15	40093937	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		40093937	62437455	49	5449											
ZNF213	7760	mdanderson.org	37	chr16	3191187	3191187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcggctgcagcgactgcGgcaagagcttctcgctgcgc	5	9	13	14	5	1	1	0	0	1	1	3	2	1	1	0	2	5	5	0	2	1	2			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr16:3191187G>A	ENST00000396878.3	+	6	1694	c.1219G>A	c.(1219-1221)Ggc>Agc	p.G407S	ZNF213_ENST00000574902.1_Missense_Mutation_p.G407S|ZNF213_ENST00000576416.1_Missense_Mutation_p.G407S|ZNF213_ENST00000416391.2_Missense_Mutation_p.G249S	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	407				G -> A (in Ref. 1; AAB70531). {ECO:0000305}.	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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CAGCGACTGCGGCAAGAGCTT	0.652																																					p.G407S													.	.			0			c.G1219A												42	42	42					16																	3191187		2197	4300	6497	SO:0001583	missense	7760	exon6			GACTGCGGCAAGA	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1219G>A	16.37:g.3191187G>A	ENSP00000380087:p.Gly407Ser		28	0	0		47	0.06	3	NM_001134655	21	0	0	A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899777	0.33535	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.21734	1.99;1.99	5.09	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.154071	0.30492	N	0.009513	T	0.24928	0.0605	M	0.81802	2.56	0.37150	D	0.902114	P	0.37441	0.595	B	0.28784	0.094	T	0.35475	-0.9787	10	0.87932	D	0	.	12.5405	0.56167	0.0:0.0:0.8322:0.1678	.	407	O14771	ZN213_HUMAN	S	407;249	ENSP00000380087:G407S;ENSP00000403892:G249S	ENSP00000380087:G407S	G	+	1	0	ZNF213	3131188	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	2.737000	0.47393	1.096000	0.41439	0.462000	0.41574	GGC			0.652	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437334.1		NM_004220		A	3191187	G	A	3191187	3	1	76	1	0	0	0	0	1	0	0	0	17792	1116	39	1	1237	1	ZNF213	16	3191187	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		3191187	87163566	50	5450											
CD2BP2	10421	mdanderson.org	37	chr16	30365009	30365009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctaggcaataggagcTccaaaagtccctccaagagg	12	8	9	12	0	2	1	0	0	2	1	6	2	5	2	3	3	1	2	3	3	6	2			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr16:30365009T>C	ENST00000305596.3	-	5	663	c.488A>G	c.(487-489)gAg>gGg	p.E163G	CD2BP2_ENST00000569466.1_Missense_Mutation_p.E163G|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	163					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CAATAGGAGCTCCAAAAGTCC	0.647																																					p.E163G													.	.			0			c.A488G												15	15	15					16																	30365009		2180	4269	6449	SO:0001583	missense	10421	exon5			AGGAGCTCCAAAA	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 59"	604470	"CD2 antigen (cytoplasmic tail)-binding protein 2"			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.488A>G	16.37:g.30365009T>C	ENSP00000304903:p.Glu163Gly		24	0	0		36	0.08	3	NM_006110	148	0	0	B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	t	17.39	3.377272	0.61735	.	.	ENSG00000169217	ENST00000305596	T	0.34275	1.37	5.06	5.06	0.68205	.	0.048616	0.85682	D	0.000000	T	0.35451	0.0932	L	0.47716	1.5	0.80722	D	1	P	0.49090	0.919	P	0.45343	0.477	T	0.07385	-1.0775	10	0.21014	T	0.42	0.4157	13.801	0.63199	0.0:0.0:0.0:1.0	.	163	O95400	CD2B2_HUMAN	G	163	ENSP00000304903:E163G	ENSP00000304903:E163G	E	-	2	0	CD2BP2	30272510	1.000000	0.71417	0.972000	0.41901	0.520000	0.34377	4.812000	0.62613	1.893000	0.54813	0.533000	0.62120	GAG			0.647	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255528.1		NM_006110		C	30365009	T	C	30365009	3	2	76	1	0	0	0	0	1	0	0	0	2997	1551	54	4	549	4	CD2BP2	16	30365009	Missense_Mutation	SNP	T	TCGA-2G-AALZ-01A-11D-A42Y-10	27173822	30365009	59989744	51	5451											
PLLP	51090	mdanderson.org	37	chr16	57290893	57290893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgccaggcctggtagcTgaagaaggcactcactccat	9	8	10	14	1	1	2	1	1	0	1	4	2	3	2	4	3	1	3	4	3	3	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr16:57290893T>C	ENST00000219207.5	-	4	627	c.481A>G	c.(481-483)Agc>Ggc	p.S161G	PLLP_ENST00000569059.1_Missense_Mutation_p.S103G	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	161	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				ion transport (GO:0006811)|myelination (GO:0042552)|response to wounding (GO:0009611)	compact myelin (GO:0043218)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)				endometrium(1)|prostate(1)	2						GCCTGGTAGCTGAAGAAGGCA	0.577																																					p.S161G													.	.			0			c.A481G												104	88	94					16																	57290893		2198	4300	6498	SO:0001583	missense	51090	exon4			GGTAGCTGAAGAA	AF137386	CCDS10777.1	16q13	2010-06-24	2010-06-24	2005-03-21	ENSG00000102934	ENSG00000102934			18553	protein-coding gene	gene with protein product	"plasma membrane proteolipid"	600340	"transmembrane 4 superfamily member 11 (plasmolipin)", "plasma membrane proteolipid (plasmolipin)"	TM4SF11		11707781	Standard	NM_015993		Approved	PMLP	uc002elg.2	Q9Y342	OTTHUMG00000133465	ENST00000219207.5:c.481A>G	16.37:g.57290893T>C	ENSP00000219207:p.Ser161Gly		23	0	0		33	0.09	3	NM_015993	64	0	0	B2R9T6	Missense_Mutation	SNP	ENST00000219207.5	37	CCDS10777.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.779859	0.90195	.	.	ENSG00000102934	ENST00000219207	T	0.29397	1.57	5.65	5.65	0.86999	Marvel (1);	0.181999	0.64402	D	0.000014	T	0.39911	0.1096	M	0.67953	2.075	0.58432	D	0.999997	P	0.47762	0.9	P	0.45946	0.498	T	0.20571	-1.0271	10	0.36615	T	0.2	-5.7368	15.8391	0.78831	0.0:0.0:0.0:1.0	.	161	Q9Y342	PLLP_HUMAN	G	161	ENSP00000219207:S161G	ENSP00000219207:S161G	S	-	1	0	PLLP	55848394	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.071000	0.57556	2.279000	0.76181	0.533000	0.62120	AGC			0.577	PLLP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257341.2				C	57290893	T	C	57290893	3	2	76	1	0	0	0	0	1	0	0	0	12116	1580	55	4	71	4	PLLP	16	57290893	Missense_Mutation	SNP	T	TCGA-2G-AALZ-01A-11D-A42Y-10	26925884	57290893	33063860	52	5452											
MINK1	50488	broad.mit.edu	37	chr17	4790982	4790982	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagcagcagcagctgcAgcagcagcagcagcgagacc	15	1	12	13	1	0	1	0	0	0	1	0	2	0	1	1	0	11	9	1	0	2	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr17:4790982A>T	ENST00000355280.6	+	12	1323	c.1127A>T	c.(1126-1128)cAg>cTg	p.Q376L	MINK1_ENST00000347992.7_Missense_Mutation_p.Q376L|MINK1_ENST00000453408.3_Missense_Mutation_p.Q376L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						cagcagctgcagcagcagcag	0.607																																					p.Q376L													.	MINK1	110		0			c.A1127T												7	9	8					17																	4790982		2021	4168	6189	SO:0001583	missense	50488	exon12			AGCTGCAGCAGCA	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1127A>T	17.37:g.4790982A>T	ENSP00000347427:p.Gln376Leu		70	0.0142857143	1		94	0.04	4	NM_170663	35	0	0		Missense_Mutation	SNP	ENST00000355280.6	37	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.801384	0.50315	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.21734	1.99;1.99;1.99	4.63	4.63	0.57726	.	0.081959	0.52532	D	0.000073	T	0.08802	0.0218	N	0.02916	-0.46	0.33781	D	0.624279	P;P;P;P	0.50528	0.936;0.936;0.895;0.936	P;P;B;P	0.44477	0.451;0.451;0.264;0.451	T	0.12400	-1.0549	10	0.21540	T	0.41	.	6.8042	0.23768	0.8971:0.0:0.1029:0.0	.	376;376;376;376	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	L	376	ENSP00000347427:Q376L;ENSP00000406487:Q376L;ENSP00000269296:Q376L	ENSP00000269296:Q376L	Q	+	2	0	MINK1	4731765	0.953000	0.32496	1.000000	0.80357	0.835000	0.47333	0.830000	0.27462	1.947000	0.56498	0.374000	0.22700	CAG			0.607	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439801.1		NM_015716		T	4790982	A	T	4790982	3	4	76	1	0	0	0	0	1	0	0	0	9603	188	7	5	912	5	MINK1	17	4790982	Missense_Mutation	SNP	A	TCGA-2G-AALZ-01A-11D-A42Y-10		4790982	76404228	53	5453											
KDM6B	23135	broad.mit.edu	37	chr17	7751771	7751771	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcaggcgtggccccccAacccccgctgaaggagccct	8	3	12	18	3	0	1	0	1	0	0	0	3	0	2	6	3	3	2	6	3	3	0			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr17:7751771A>C	ENST00000448097.2	+	11	2496	c.2165A>C	c.(2164-2166)cAa>cCa	p.Q722P	KDM6B_ENST00000254846.5_Missense_Mutation_p.Q722P			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	722	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						GTGGCCCCCCAACCCCCGCTG	0.592																																					p.Q722P													.	KDM6B	95		0			c.A2165C												79	93	88					17																	7751771		2203	4300	6503	SO:0001583	missense	23135	exon11			CCCCCCAACCCCC	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.2165A>C	17.37:g.7751771A>C	ENSP00000412513:p.Gln722Pro		30	0.1	3		38	0.29	11	NM_001080424	16	0	0	C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	C	0.014	-1.573338	0.00887	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.04502	3.61;3.61	4.52	2.44	0.29823	.	0.353337	0.23442	N	0.048129	T	0.02083	0.0065	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	0.47649	-0.9101	10	0.02654	T	1	-4.2915	12.868	0.57949	0.4243:0.5757:0.0:0.0	.	722;722	O15054;O15054-1	KDM6B_HUMAN;.	P	722	ENSP00000254846:Q722P;ENSP00000412513:Q722P	ENSP00000254846:Q722P	Q	+	2	0	KDM6B	7692496	0.000000	0.05858	0.186000	0.23195	0.203000	0.24098	0.224000	0.17738	0.239000	0.21243	-0.323000	0.08544	CAA			0.592	KDM6B-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000440248.1		XM_043272		C	7751771	A	C	7751771	3	2	76	1	0	0	0	0	1	0	0	0	8153	130	5	4	2195	4	KDM6B	17	7751771	Missense_Mutation	SNP	A	TCGA-2G-AALZ-01A-11D-A42Y-10	2960789	7751771	73443439	54	5454											
RAB34	83871	mdanderson.org	37	chr17	27044263	27044263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccaggacgcgatccctccGcacgggtgccagaatgttca	8	6	12	15	5	1	1	1	0	0	1	3	3	3	2	4	2	1	2	4	2	1	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr17:27044263G>A	ENST00000395245.3	-	1	648	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	RAB34_ENST00000395243.3_Missense_Mutation_p.R8W|RPL23A_ENST00000422514.2_5'Flank|RPL23A_ENST00000394938.4_5'Flank|RAB34_ENST00000450529.1_Missense_Mutation_p.R8W|RAB34_ENST00000415040.2_Missense_Mutation_p.R8W|RAB34_ENST00000447716.1_Missense_Mutation_p.R65W|RAB34_ENST00000453384.3_Missense_Mutation_p.R65W|RAB34_ENST00000395242.2_Missense_Mutation_p.R8W|RPL23A_ENST00000496182.1_5'Flank|RAB34_ENST00000301043.6_Missense_Mutation_p.R8W|RAB34_ENST00000436730.3_Missense_Mutation_p.R8W	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	8					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CGATCCCTCCGCACGGGTGCC	0.731																																					p.A155V	Pancreas(175;216 2049 29940 32498 41589)												.	.			0			c.C464T												12	15	14					17																	27044263		2194	4295	6489	SO:0001583	missense	0	exon1			CCCTCCGCACGGG	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"RAB, member RAS oncogene"	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.22C>T	17.37:g.27044263G>A	ENSP00000378666:p.Arg8Trp		24	0	0		35	0.09	3	NM_001256281	264	0	0	B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752259	0.89753	.	.	ENSG00000109113	ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000412625;ENST00000353676	T;T;T;T;T;T;T;T;T	0.71461	-0.49;-0.25;-0.13;-0.57;0.11;-0.13;-0.13;-0.28;-0.28	5.16	5.16	0.70880	.	0.358481	0.29225	N	0.012769	T	0.80253	0.4589	L	0.50333	1.59	0.44862	D	0.997872	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;1.0	D;P;D;D;D;D;D	0.72625	0.952;0.908;0.978;0.936;0.952;0.952;0.936	T	0.83255	-0.0051	9	0.72032	D	0.01	-3.075	15.7235	0.77732	0.0:0.0:1.0:0.0	.	65;8;8;31;31;8;8	E7ES60;E9PEJ9;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1	.;.;.;.;.;.;RAB34_HUMAN	W	65;65;8;8;8;31;8;8;31;8;8	ENSP00000413156:R65W;ENSP00000410403:R65W;ENSP00000301043:R8W;ENSP00000378664:R8W;ENSP00000410279:R8W;ENSP00000378663:R8W;ENSP00000378666:R8W;ENSP00000398706:R8W;ENSP00000226259:R8W	ENSP00000301043:R8W	R	-	1	2	RAB34	24068390	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.522000	0.35921	2.551000	0.86045	0.561000	0.74099	CGG			0.731	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000345906.1		NM_031934		A	27044263	G	A	27044263	3	1	76	1	0	0	0	0	1	0	0	0	12947	1086	38	1	864	1	RAB34	17	27044263	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	19292492	27044263	54150947	55	5455											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	10	7	7	17	2	1	2	0	0	1	2	4	2	3	2	6	1	1	2	6	1	3	2			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																					p.R79H													THRA_ENST00000450525,NS,carcinoma,0,2	THRA	88	2	2	Substitution - Missense(2)	kidney(2)	c.G236A												145	129	134					17																	38240101		2203	4300	6503	SO:0001583	missense	7067	exon5			TTCGCCGCACAAT	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His		144	0.0069444444	1		169	0.03	5	NM_001190918	92	0	0	A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC			0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000257160.2				A	38240101	G	A	38240101	3	1	76	1	0	0	0	0	1	0	0	0	15896	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	11195838	38240101	42955109	56	5456											
NPLOC4	55666	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	79589248	79589248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgttatctctccggtcttGtttctattgatgtaaaccga	7	17	8	9	2	3	1	0	1	3	0	5	2	4	1	2	1	1	4	2	1	4	6			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr17:79589248G>C	ENST00000331134.6	-	3	368	c.153C>G	c.(151-153)aaC>aaG	p.N51K	NPLOC4_ENST00000374747.5_Missense_Mutation_p.N51K|NPLOC4_ENST00000539314.1_5'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	51					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTCCGGTCTTGTTTCTATTGA	0.418																																					p.N51K													.	.			0			c.C153G												111	106	107					17																	79589248		1861	4101	5962	SO:0001583	missense	55666	exon3			GGTCTTGTTTCTA	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.153C>G	17.37:g.79589248G>C	ENSP00000331487:p.Asn51Lys		68	0	0		75	0.08	6	NM_017921	17	0.24	4	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188739	0.57909	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	5.21	4.24	0.50183	Nuclear pore localisation protein Npl4, ubiquitin-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.65498	2.005	0.80722	D	1	D;D	0.58970	0.984;0.97	P;P	0.59595	0.86;0.801	T	0.62590	-0.6822	9	0.15499	T	0.54	-38.7437	9.9823	0.41821	0.1578:0.0:0.8422:0.0	.	51;51	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	K	51;50	.	ENSP00000331487:N51K	N	-	3	2	NPLOC4	77199653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.645000	0.61404	1.315000	0.45114	0.591000	0.81541	AAC			0.418	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440140.1				C	79589248	G	C	79589248	3	2	76	1	0	0	0	0	1	0	0	0	10603	1368	48	5	1733	5	NPLOC4	17	79589248	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	41349147	79589248	1605962	57	5457											
MUC16	94025	mdanderson.org	37	chr19	9033260	9033260	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagtctgcagcctgaataGaggtattccagactgctatt	10	12	10	9	0	1	3	0	1	1	2	2	3	2	3	2	1	3	4	2	1	5	6			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr19:9033260G>T	ENST00000397910.4	-	10	36569	c.36366C>A	c.(36364-36366)ctC>ctA	p.L12122L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12124	SEA 1. {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						AGCCTGAATAGAGGTATTCCA	0.527																																					p.L12122L													.	.			0			c.C36366A												66	65	66					19																	9033260		1980	4154	6134	SO:0001819	synonymous_variant	94025	exon10			TGAATAGAGGTAT	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.36366C>A	19.37:g.9033260G>T			57	0	0		68	0.06	4	NM_024690	0		0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																					0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690		T	9033260	G	T	9033260	2	4	76	1	0	0	0	0	0	0	0	1	9989	929	33	3		3	MUC16	19	9033260	Silent	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		9033260	50095723	58	5458											
PPAN	56342	mdanderson.org	37	chr19	10217274	10217274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttcacgcgaggctgcaCgggtcgcaacatccggcagc	7	6	14	14	6	1	0	1	0	0	0	3	1	2	0	1	3	3	5	1	3	1	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr19:10217274C>T	ENST00000253107.7	+	2	222	c.116C>T	c.(115-117)aCg>aTg	p.T39M	PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.T39M|PPAN_ENST00000556468.1_Missense_Mutation_p.T39M|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.T39M|PPAN_ENST00000393793.1_5'UTR|SNORD105_ENST00000386910.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	39	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				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)			CGAGGCTGCACGGGTCGCAAC	0.706																																					p.T39M													.	.			0			c.C116T												7	10	9					19																	10217274		2132	4189	6321	SO:0001583	missense	56342	exon2			GCTGCACGGGTCG	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.116C>T	19.37:g.10217274C>T	ENSP00000253107:p.Thr39Met		26	0	0		32	0.09	3	NM_020230	32	0	0	C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460908	0.26248	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.45	0.906	0.19314	Brix domain (3);	.	.	.	.	T	0.11836	0.0288	N	0.12182	0.205	0.09310	N	1	P;P;D	0.53151	0.927;0.927;0.958	B;B;B	0.40199	0.286;0.322;0.322	T	0.13791	-1.0496	9	0.51188	T	0.08	-18.6332	4.6138	0.12415	0.0:0.4426:0.3171:0.2403	.	39;39;39	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	M	39	ENSP00000411918:T39M;ENSP00000377385:T39M;ENSP00000253107:T39M;ENSP00000450710:T39M	ENSP00000253107:T39M	T	+	2	0	PPAN;PPAN-P2RY11	10078274	0.952000	0.32445	0.144000	0.22314	0.003000	0.03518	1.668000	0.37481	0.274000	0.22072	-0.304000	0.09214	ACG			0.706	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316658.1		NM_020230		T	10217274	C	T	10217274	3	4	76	1	0	0	0	0	1	0	0	0	12305	536	19	1	122	1	PPAN	19	10217274	Missense_Mutation	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	1184014	10217274	48911709	59	5459											
ZNF708	7562	mdanderson.org	37	chr19	21476897	21476897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attagtaaggtttgaggactGtttaaaagctttgccacatt	12	15	9	5	0	0	1	0	1	0	0	0	2	0	2	1	2	2	4	1	2	4	7			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr19:21476897G>T	ENST00000356929.3	-	4	1068	c.871C>A	c.(871-873)Cag>Aag	p.Q291K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	227					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(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TTTGAGGACTGTTTAAAAGCT	0.388																																					p.Q291K													.	.			0			c.C871A												51	55	54					19																	21476897		2201	4299	6500	SO:0001583	missense	7562	exon4			AGGACTGTTTAAA	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.871C>A	19.37:g.21476897G>T	ENSP00000349401:p.Gln291Lys		18	0	0		19	0.11	2	NM_021269	3	0	0	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0.043	-1.277680	0.01410	.	.	ENSG00000182141	ENST00000356929	T	0.17691	2.26	1.05	-0.883	0.10600	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12944	0.0314	L	0.42581	1.335	0.09310	N	1	B	0.23650	0.089	B	0.20955	0.032	T	0.30416	-0.9979	9	0.34782	T	0.22	.	7.367	0.26779	0.0:0.452:0.548:0.0	.	291	P17019	ZN708_HUMAN	K	291	ENSP00000349401:Q291K	ENSP00000349401:Q291K	Q	-	1	0	ZNF708	21268737	0.000000	0.05858	0.317000	0.25265	0.263000	0.26337	-4.548000	0.00217	0.482000	0.27582	0.485000	0.47835	CAG			0.388	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463953.1		NM_021269		T	21476897	G	T	21476897	3	4	76	1	0	0	0	0	1	0	0	0	18135	1386	48	3	824	3	ZNF708	19	21476897	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	11259623	21476897	37652086	60	5460											
FFAR2	2867	mdanderson.org	37	chr19	35940862	35940862	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcccaaggtcgtctgCgccctcacgagttttggctt	5	12	10	14	3	2	0	1	0	1	0	3	1	2	0	3	2	3	2	3	2	2	4			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr19:35940862C>T	ENST00000599180.2	+	2	326	c.246C>T	c.(244-246)tgC>tgT	p.C82C	FFAR2_ENST00000246549.2_Silent_p.C82C|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	82					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.C82*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGTCGTCTGCGCCCTCACGA	0.627																																					p.C82C	GBM(40;139 809 9833 23358 48736)												FFAR2,NS,carcinoma,0,1	FFAR2	0	1	1	Substitution - Nonsense(1)	lung(1)	c.C246T												57	46	49					19																	35940862		2203	4300	6503	SO:0001819	synonymous_variant	2867	exon1			CGTCTGCGCCCTC	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.246C>T	19.37:g.35940862C>T			47	0	0		42	0.07	3	NM_005306	0		0	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																					0.627	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466120.3		NM_005306		T	35940862	C	T	35940862	2	4	76	1	0	0	0	0	0	0	0	1	5841	776	27	1		1	FFAR2	19	35940862	Silent	SNP	C	TCGA-2G-AALZ-01A-11D-A42Y-10	14463965	35940862	23188121	61	5461											
CATSPERG	57828	hgsc.bcm.edu	37	chr19	38858705	38858705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaccaacagccttatctGgaccacgaggaccacaagga	14	4	10	13	1	1	0	0	0	1	0	1	5	1	4	4	4	2	0	4	4	3	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr19:38858705G>T	ENST00000409235.3	+	26	3063	c.2948G>T	c.(2947-2949)tGg>tTg	p.W983L	CATSPERG_ENST00000410018.1_Missense_Mutation_p.W943L|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	983					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)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGCCTTATCTGGACCACGAGG	0.612																																					p.W983L													.	.			0			c.G2948T												264	210	228					19																	38858705		2203	4300	6503	SO:0001583	missense	57828	exon26			TTATCTGGACCAC	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2948G>T	19.37:g.38858705G>T	ENSP00000386962:p.Trp983Leu		64	0	0		81	0.05	4	NM_021185	1	0	0	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.264947	0.59431	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.32023	1.49;1.47	3.35	3.35	0.38373	.	0.000000	0.33895	U	0.004455	T	0.41282	0.1152	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	T	0.14254	-1.0479	10	0.42905	T	0.14	-8.3764	10.5005	0.44802	0.0:0.0:1.0:0.0	.	983;943	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	L	943;983;983	ENSP00000387057:W943L;ENSP00000386962:W983L	ENSP00000386962:W983L	W	+	2	0	CATSPERG	43550545	1.000000	0.71417	0.999000	0.59377	0.143000	0.21401	2.409000	0.44583	2.152000	0.67230	0.585000	0.79938	TGG			0.612	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330204.1		NM_021185		T	38858705	G	T	38858705	3	4	76	1	0	0	0	0	1	0	0	0	2694	1357	47	3	3046	3	CATSPERG	19	38858705	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	2917843	38858705	20270278	62	5462											
DYRK1B	9149	mdanderson.org	37	chr19	40321083	40321083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccagcgctcgccactgcGcacgatgtagtcatggttgt	7	9	12	13	4	1	0	1	0	0	0	2	1	1	0	2	1	3	4	2	1	1	2	rs367643250		TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr19:40321083G>T	ENST00000593685.1	-	4	772	c.304C>A	c.(304-306)Cgc>Agc	p.R102S	DYRK1B_ENST00000430012.2_Missense_Mutation_p.R102S|DYRK1B_ENST00000601972.1_Missense_Mutation_p.R102S|DYRK1B_ENST00000597639.1_Missense_Mutation_p.R102S|DYRK1B_ENST00000323039.5_Missense_Mutation_p.R102S|DYRK1B_ENST00000348817.3_Missense_Mutation_p.R102S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	102			R -> C (in AOMS3; accumulation of intracellular lipid is significantly greater than with wild-type protein; cells expressing the variant are able to transform into mature adipocytes without requiring adipogenic medium; expression levels of CEBPA, PPARG forms 1 and 2 and PPARGC1A are higher and those of GLI1 and CDKN1B are lower in cells transfected with the mutant protein compared to wild- type; WNT1 signaling activity is lower in mutant cells compared to wild-type). {ECO:0000269|PubMed:24827035}.|R -> H (in dbSNP:rs55687541). {ECO:0000269|PubMed:17344846}.		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)			TCGCCACTGCGCACGATGTAG	0.597																																					p.R102S													.	.			0			c.C304A												146	108	121					19																	40321083		2203	4300	6503	SO:0001583	missense	9149	exon4			CACTGCGCACGAT	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.304C>A	19.37:g.40321083G>T	ENSP00000469863:p.Arg102Ser		45	0	0		49	0.06	3	NM_006483	31	0	0	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175921	0.21704	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.19669	2.13;2.13;2.13	4.44	4.44	0.53790	Protein kinase-like domain (1);	0.072440	0.53938	D	0.000049	T	0.18593	0.0446	L	0.41492	1.28	0.40438	D	0.980012	B;B;B;B	0.24675	0.059;0.049;0.059;0.109	B;B;B;B	0.30646	0.055;0.073;0.033;0.118	T	0.06041	-1.0849	10	0.34782	T	0.22	.	9.9308	0.41521	0.0:0.0:0.7965:0.2035	.	102;102;102;102	B3KQI0;Q9Y463-2;Q9Y463;Q9Y463-3	.;.;DYR1B_HUMAN;.	S	102	ENSP00000312789:R102S;ENSP00000221803:R102S;ENSP00000403182:R102S	ENSP00000312789:R102S	R	-	1	0	DYRK1B	45012923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.689000	0.61723	2.026000	0.59711	0.563000	0.77884	CGC			0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462874.2		NM_004714		T	40321083	G	T	40321083	3	4	76	1	0	0	0	0	1	0	0	0	4860	1087	38	1	1617	1	DYRK1B	19	40321083	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	1462378	40321083	18807900	63	5463											
SHKBP1	92799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	41094564	41094564	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacgtgcggacatggtcTgtgactcgcttccgcggcat	7	9	12	13	5	1	1	0	1	1	0	3	2	2	2	2	3	2	2	2	3	1	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr19:41094564T>C	ENST00000291842.5	+	14	1420	c.1371T>C	c.(1369-1371)tcT>tcC	p.S457S	SHKBP1_ENST00000600733.1_Silent_p.S432S|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	457					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGACATGGTCTGTGACTCGCT	0.622																																					p.S457S													.	.			0			c.T1371C												172	153	160					19																	41094564		2203	4300	6503	SO:0001819	synonymous_variant	92799	exon14			ATGGTCTGTGACT	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1371T>C	19.37:g.41094564T>C			79	0	0		125	0.14	17	NM_138392	160	0.07	11	Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	CCDS12560.1																																																																																					0.622	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462613.2		NM_138392		C	41094564	T	C	41094564	2	2	76	1	0	0	0	0	0	0	0	1	14307	1567	55	4		4	SHKBP1	19	41094564	Silent	SNP	T	TCGA-2G-AALZ-01A-11D-A42Y-10	773481	41094564	18034419	64	5464											
APOC4	346	mdanderson.org	37	chr19	45448465	45448465	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagggacctgggtccgcTcaccaaggcctggttcctcg	5	8	13	15	2	1	1	1	1	0	0	4	2	3	2	6	4	0	2	6	4	1	1	rs5167	byFrequency	TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr19:45448465T>A	ENST00000592954.1	+	3	327	c.287T>A	c.(286-288)cTc>cAc	p.L96H	APOC2_ENST00000252490.4_5'Flank|APOC2_ENST00000592257.1_5'Flank|APOC4-APOC2_ENST00000589057.1_Intron|APOC4_ENST00000419266.2_Missense_Mutation_p.L96H|APOC2_ENST00000590360.1_5'Flank|APOC2_ENST00000591597.1_5'Flank	NM_001646.2	NP_001637.1	P55056	APOC4_HUMAN	apolipoprotein C-IV	96			L -> R (in dbSNP:rs5167). {ECO:0000269|PubMed:10996355}.		lipid metabolic process (GO:0006629)|positive regulation of sequestering of triglyceride (GO:0010890)|triglyceride homeostasis (GO:0070328)	high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		CTGGGTCCGCTCACCAAGGCC	0.587																																					p.L96H													.	.			0			c.T287A	GRCh37	CM065970	APOC4	M	rs5167							179	177	177					19																	45448465		2203	4300	6503	SO:0001583	missense	346	exon3			GTCCGCTCACCAA	U32576	CCDS12649.1	19q13.2	2013-09-30			ENSG00000267467	ENSG00000267467		"Apolipoproteins"	611	protein-coding gene	gene with protein product		600745				8530039	Standard	NM_001646		Approved			P55056	OTTHUMG00000180845	ENST00000592954.1:c.287T>A	19.37:g.45448465T>A	ENSP00000468236:p.Leu96His		50	0	0		60	0.03	2	NM_001646	0		0	B3KWY6|Q53YY8	Missense_Mutation	SNP	ENST00000592954.1	37	CCDS12649.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.507085	0.00992	.	.	ENSG00000224916	ENST00000419266;ENST00000436871	T;T	0.23552	1.9;1.9	4.26	2.07	0.26955	.	0.168114	0.28821	N	0.014031	T	0.11196	0.0273	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.06826	-1.0805	9	0.66056	D	0.02	-18.197	4.6363	0.12527	0.195:0.0:0.6327:0.1723	.	96	P55056	APOC4_HUMAN	H	96	ENSP00000406381:L96H;ENSP00000412935:L96H	ENSP00000406381:L96H	L	+	2	0	APOC4	50140305	0.042000	0.20092	0.006000	0.13384	0.060000	0.15804	1.155000	0.31700	0.176000	0.19873	-0.702000	0.03669	CTC			0.587	APOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453255.1		NM_001646		A	45448465	T	A	45448465	3	1	76	1	0	0	0	0	1	0	0	0	800	1551	54	5	297	5	APOC4	19	45448465	Missense_Mutation	SNP	T	TCGA-2G-AALZ-01A-11D-A42Y-10	4353901	45448465	13680518	65	5465											
RSPH6A	81492	mdanderson.org	37	chr19	46303719	46303719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctacttgccactggcatagGcataggccccgggccagagg	8	6	13	14	1	0	1	0	0	0	1	0	1	0	1	5	5	2	2	5	5	3	4			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr19:46303719G>T	ENST00000221538.3	-	5	2043	c.1901C>A	c.(1900-1902)gCc>gAc	p.A634D	RSPH6A_ENST00000600188.1_Missense_Mutation_p.A370D|RSPH6A_ENST00000597055.1_Missense_Mutation_p.A634D	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	634	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						ACTGGCATAGGCATAGGCCCC	0.642																																					p.A634D													.	.			0			c.C1901A												47	45	46					19																	46303719		2203	4300	6503	SO:0001583	missense	81492	exon5			GCATAGGCATAGG	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.1901C>A	19.37:g.46303719G>T	ENSP00000221538:p.Ala634Asp		17	0	0		30	0.1	3	NM_030785	0		0	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.399643	0.83120	.	.	ENSG00000104941	ENST00000221538	T	0.20598	2.06	5.03	5.03	0.67393	.	0.412945	0.28273	N	0.015956	T	0.49983	0.1589	M	0.86502	2.82	0.40059	D	0.975878	D	0.63880	0.993	D	0.68039	0.955	T	0.56836	-0.7913	10	0.72032	D	0.01	-6.3194	14.1299	0.65247	0.0:0.0:1.0:0.0	.	634	Q9H0K4	RSH6A_HUMAN	D	634	ENSP00000221538:A634D	ENSP00000221538:A634D	A	-	2	0	RSPH6A	50995559	1.000000	0.71417	0.522000	0.27862	0.807000	0.45602	8.523000	0.90576	2.804000	0.96469	0.555000	0.69702	GCC			0.642	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461657.1				T	46303719	G	T	46303719	3	4	76	1	0	0	0	0	1	0	0	0	13730	1203	42	2	260	2	RSPH6A	19	46303719	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	855254	46303719	12825264	66	5466											
RNF160	26046	mdanderson.org	37	chr21	30304979	30304979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctcgagtagtagctcgaGctttaacctgcaatacaaca	12	10	7	12	2	1	0	0	0	1	0	3	2	1	0	2	0	6	5	2	0	6	5			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr21:30304979G>T	ENST00000361371.5	-	28	4962	c.4883C>A	c.(4882-4884)gCt>gAt	p.A1628D	LTN1_ENST00000389194.2_Missense_Mutation_p.A1674D			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1628					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGTAGCTCGAGCTTTAACCTG	0.338																																					p.A1674D													.	.			0			c.C5021A												86	92	90					21																	30304979		2203	4300	6503	SO:0001583	missense	26046	exon28			GCTCGAGCTTTAA	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4883C>A	21.37:g.30304979G>T	ENSP00000354977:p.Ala1628Asp		37	0	0		46	0.07	3	NM_015565	18	0	0	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	28.5	4.923570	0.92319	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.20881	2.04;2.05	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.45160	-0.9280	10	0.49607	T	0.09	.	19.151	0.93488	0.0:0.0:1.0:0.0	.	1628	O94822	LTN1_HUMAN	D	1674;1628	ENSP00000373846:A1674D;ENSP00000354977:A1628D	ENSP00000354977:A1628D	A	-	2	0	LTN1	29226850	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.392000	0.97252	2.757000	0.94681	0.563000	0.77884	GCT			0.338	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000472108.1		NM_015565		T	30304979	G	T	30304979	3	4	76	1	0	0	0	0	1	0	0	0	13478	971	34	2	429	2	RNF160	21	30304979	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		30304979	17824916	67	5467											
PKDREJ	10343	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr22	46658494	46658494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtccagctgcaccgaggcGttgatggtggcctccgcctg	5	8	14	14	3	0	1	0	1	0	0	2	2	2	1	5	3	2	3	5	3	0	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chr22:46658494G>A	ENST00000253255.5	-	1	725	c.726C>T	c.(724-726)aaC>aaT	p.N242N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	242	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)	p.N242N(1)		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)		GCACCGAGGCGTTGATGGTGG	0.697																																					p.N242N													PKDREJ,colon,carcinoma,0,1	PKDREJ	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C726T												24	26	26					22																	46658494		2203	4299	6502	SO:0001819	synonymous_variant	10343	exon1			CGAGGCGTTGATG	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.726C>T	22.37:g.46658494G>A			55	0	0		65	0.12	8	NM_006071	1	0	0	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																					0.697	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318466.1		NM_006071		A	46658494	G	A	46658494	2	1	76	1	0	0	0	0	0	0	0	1	11987	1136	40	1		1	PKDREJ	22	46658494	Silent	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		46658494	4646072	68	5468											
CCDC120	90060	mdanderson.org	37	chrX	48922190	48922190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcgtcttgctcagctcaGccaaggtgagcatcccctgg	7	9	11	14	1	3	1	2	1	1	0	4	1	4	1	3	2	5	3	3	2	1	1			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chrX:48922190G>T	ENST00000376396.3	+	6	833	c.614G>T	c.(613-615)aGc>aTc	p.S205I	CCDC120_ENST00000536628.2_Missense_Mutation_p.S193I|CCDC120_ENST00000496529.2_Missense_Mutation_p.S205I|CCDC120_ENST00000422185.2_Missense_Mutation_p.S205I|CCDC120_ENST00000597275.1_Missense_Mutation_p.S205I|CCDC120_ENST00000603986.1_Missense_Mutation_p.S240I	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	205										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GCTCAGCTCAGCCAAGGTGAG	0.647																																					p.S240I													.	.			0			c.G719T												24	21	22					X																	48922190		2198	4289	6487	SO:0001583	missense	90060	exon6			AGCTCAGCCAAGG	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.614G>T	X.37:g.48922190G>T	ENSP00000365577:p.Ser205Ile		26	0	0		42	0.07	3	NM_001163321	1	0	0	B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253732	0.59212	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.35	4.35	0.52113	.	0.152029	0.40222	N	0.001147	T	0.39118	0.1066	N	0.11313	0.125	0.36249	D	0.853809	D;D;D;D	0.61080	0.978;0.989;0.978;0.978	P;P;P;P	0.53912	0.601;0.737;0.601;0.601	T	0.49986	-0.8880	9	0.38643	T	0.18	-9.9057	11.5478	0.50702	0.0:0.0:1.0:0.0	.	193;240;193;205	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	I	205;205;193	.	ENSP00000365577:S205I	S	+	2	0	CCDC120	48809134	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	4.376000	0.59556	1.756000	0.51951	0.292000	0.19580	AGC			0.647	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000056528.1		NM_033626		T	48922190	G	T	48922190	3	4	76	1	0	0	0	0	1	0	0	0	2758	971	34	2	628	2	CCDC120	23	48922190	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10		48922190	106348370	69	5469											
SHROOM4	57477	bcgsc.ca;mdanderson.org	37	chrX	50438918	50438918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttctgggacaaagctGccttgcctccatcttcaatc	8	13	6	14	0	5	0	2	0	3	0	7	1	6	1	3	1	3	1	3	1	2	3			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chrX:50438918G>T	ENST00000289292.7	-	2	420	c.137C>A	c.(136-138)gCa>gAa	p.A46E	SHROOM4_ENST00000376020.2_Missense_Mutation_p.A46E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	46	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGACAAAGCTGCCTTGCCTCC	0.473																																					p.A46E													.	SHROOM4	171		0			c.C137A												92	78	82					X																	50438918		2203	4300	6503	SO:0001583	missense	57477	exon2			AAAGCTGCCTTGC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.137C>A	X.37:g.50438918G>T	ENSP00000289292:p.Ala46Glu		46	0	0		62	0.1	6	NM_020717	0		0	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507038	0.64410	.	.	ENSG00000158352	ENST00000289292;ENST00000376020	T;T	0.38077	1.16;1.16	5.4	5.4	0.78164	PDZ/DHR/GLGF (4);	0.183522	0.32640	N	0.005824	T	0.73791	0.3632	H	0.97465	4.01	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.83854	0.0264	10	0.87932	D	0	.	15.7052	0.77573	0.0:0.0:1.0:0.0	.	46	Q9ULL8	SHRM4_HUMAN	E	46	ENSP00000289292:A46E;ENSP00000365188:A46E	ENSP00000289292:A46E	A	-	2	0	SHROOM4	50455658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.881000	0.92415	2.394000	0.81467	0.544000	0.68410	GCA			0.473	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056564.4		NM_020717		T	50438918	G	T	50438918	3	4	76	1	0	0	0	0	1	0	0	0	14319	1319	46	2	4376	2	SHROOM4	23	50438918	Missense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	1516728	50438918	104831642	70	5470											
GAB3	139716	mdanderson.org	37	chrX	153928305	153928305	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactaagccgcttgtctcGgtgtcttaaggattggcctt	8	13	10	10	2	2	0	0	0	2	0	3	1	2	1	2	3	2	1	2	3	3	5			TCGA-2G-AALZ-01A-11D-A42Y-10	TCGA-2G-AALZ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20764d97-a509-4c5a-8ab1-fc15b82c0958	b79135a4-1369-4dd1-892e-f72cbed6242b	g.chrX:153928305G>A	ENST00000369575.3	-	5	1127	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	GAB3_ENST00000424127.2_Nonsense_Mutation_p.R367*|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	366					macrophage differentiation (GO:0030225)			p.R366*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCTTGTCTCGGTGTCTTAAG	0.393																																					p.R367X													.	.			1	Substitution - Nonsense(1)	large_intestine(1)	c.C1099T												159	142	148					X																	153928305		2203	4300	6503	SO:0001587	stop_gained	139716	exon5			TGTCTCGGTGTCT	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1096C>T	X.37:g.153928305G>A	ENSP00000358588:p.Arg366*		47	0	0		52	0.06	3	NM_001081573	2	0	0	A6NHF8|E9PB44	Nonsense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	37	6.374336	0.97515	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	.	.	.	5.76	4.87	0.63330	.	0.871922	0.09643	N	0.774794	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-7.1472	10.7036	0.45942	0.0:0.0:0.6542:0.3458	.	.	.	.	X	366;367;367	.	ENSP00000358581:R367X	R	-	1	2	GAB3	153581499	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.916000	0.39986	1.147000	0.42369	0.468000	0.43344	CGA			0.393	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061192.2		NM_001081573		A	153928305	G	A	153928305	4	1	76	1	0	0	0	0	0	1	0	0	6163	1124	39	1	688	1	GAB3	23	153928305	Nonsense_Mutation	SNP	G	TCGA-2G-AALZ-01A-11D-A42Y-10	103489387	153928305	1342255	71	5471											
FAM43B	163933	broad.mit.edu	37	chr1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-																															gcagcatccaggaggaggacGaggaggaggaggaggacgac																										TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744																																					p.268_268del													.	FAM43B	10		0			c.802_804del									121,39,3262		29,0,63,5,29,1585						-0.4	1			5	4,54,6868		0,0,4,2,50,3407	no	codingComplex	FAM43B	NM_207334.2		29,0,67,7,79,4992	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8374,4.6756,2.1067				125,93,10130				SO:0001651	inframe_deletion	163933	exon1			GAGGACGAGGAGG	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.802_804delGAG	1.37:g.20880277_20880279delGAG	ENSP00000331397:p.Glu272del		3	0	0		7	0.43	3	NM_207334	1	0	0	A5PKT8|A5PL01	In_Frame_Del	DEL	ENST00000332947.4	37	CCDS209.1																																																																																					0.744	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127759.1		NM_207334		-	20880270	GAG	-	20880268	7	5	77	1	0	1	0	1	0	0	0	0	5576	1059	37	0	804	0	FAM43B	1	20880268	In_Frame_Del	DEL	GAG	TCGA-2G-AAM2-01A-11D-A435-10		20880268	228370353	1	5472											
LOR	4014	broad.mit.edu	37	chr1	153233515	153233515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggcggcggcagcggCggtggtggctgcggcttctt	1	8	22	10	6	1	0	0	0	1	0	1	0	1	0	0	10	2	3	0	10	0	2			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr1:153233515C>T	ENST00000368742.3	+	2	147	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	30					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggcagcggcggtggtggct	0.697																																					p.G30G													.	LOR	19		0			c.C90T												6	8	8					1																	153233515		1962	3919	5881	SO:0001819	synonymous_variant	4014	exon2			CAGCGGCGGTGGT	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.90C>T	1.37:g.153233515C>T			54	0	0		90	0.04	4	NM_000427	0		0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																					0.697	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039107.1		NM_000427		T	153233515	C	T	153233515	2	4	77	1	0	0	0	0	0	0	0	1	8913	755	27	1		1	LOR	1	153233515	Silent	SNP	C	TCGA-2G-AAM2-01A-11D-A435-10	132353247	153233515	96017106	2	5473											
APOA1BP	128240	broad.mit.edu	37	chr1	156562379	156562379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaccatctattaccccaaaAggcctaacaagcccctcttc	13	8	3	17	0	2	0	0	0	2	0	3	0	2	0	6	1	4	0	6	1	7	4			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr1:156562379A>G	ENST00000368235.3	+	4	476	c.433A>G	c.(433-435)Agg>Ggg	p.R145G	APOA1BP_ENST00000368234.3_Missense_Mutation_p.R145G|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Missense_Mutation_p.R145G	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTACCCCAAAAGGCCTAACAA	0.562																																					p.R145G													.	APOA1BP	16		0			c.A433G												172	173	173					1																	156562379		2203	4300	6503	SO:0001583	missense	128240	exon4			CCCAAAAGGCCTA	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"apoA-I binding protein"	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.433A>G	1.37:g.156562379A>G	ENSP00000357218:p.Arg145Gly		65	0	0		114	0.03	3	NM_144772	292	0	0		Missense_Mutation	SNP	ENST00000368235.3	37	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584003	0.65992	.	.	ENSG00000163382	ENST00000446584;ENST00000368234;ENST00000368235;ENST00000368233	T;T;T	0.42131	0.98;0.98;0.98	3.8	3.8	0.43715	YjeF-related protein, N-terminal (5);	0.050499	0.64402	D	0.000001	T	0.46151	0.1378	M	0.74467	2.265	0.54753	D	0.999989	D;P;D	0.61697	0.984;0.942;0.99	P;P;P	0.61328	0.887;0.538;0.848	T	0.49872	-0.8893	10	0.51188	T	0.08	.	7.9688	0.30115	0.6495:0.3505:0.0:0.0	.	145;145;145	Q5T3I3;Q8NCW5;Q5T3I4	.;AIBP_HUMAN;.	G	163;145;145;145	ENSP00000357217:R145G;ENSP00000357218:R145G;ENSP00000357216:R145G	ENSP00000357216:R145G	R	+	1	2	APOA1BP	154829003	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	2.781000	0.47750	1.596000	0.50062	0.533000	0.62120	AGG			0.562	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000081044.1		NM_144772		G	156562379	A	G	156562379	3	3	77	1	0	0	0	0	1	0	0	0	781	63	3	4	447	4	APOA1BP	1	156562379	Missense_Mutation	SNP	A	TCGA-2G-AAM2-01A-11D-A435-10	3328864	156562379	92688242	3	5474											
DDX59	83479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	200618324	200618324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtttgcagtccacaaataCtaacactggaggcttaaaga	15	10	8	8	0	0	1	0	0	0	1	1	2	1	2	1	2	3	3	1	2	6	5			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr1:200618324C>G	ENST00000331314.6	-	6	1558	c.1345G>C	c.(1345-1347)Gta>Cta	p.V449L	DDX59_ENST00000447706.2_Missense_Mutation_p.V449L|DDX59_ENST00000367348.3_Missense_Mutation_p.V449L	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	449	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCCACAAATACTAACACTGGA	0.318																																					p.V449L													.	.			0			c.G1345C												101	99	100					1																	200618324		2203	4299	6502	SO:0001583	missense	83479	exon6			CAAATACTAACAC	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1345G>C	1.37:g.200618324C>G	ENSP00000330460:p.Val449Leu		156	0	0		169	0.28	48	NM_001031725	54	0.35	19	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.456017|5.456017	0.96223|0.96223	.|.	.|.	ENSG00000118197|ENSG00000118197	ENST00000429498|ENST00000447706;ENST00000413408;ENST00000367348;ENST00000367346;ENST00000331314;ENST00000433235	.|D;T;D;D;T	.|0.94417	.|-3.42;3.25;-3.42;-3.42;3.25	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Helicase, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97315|0.97315	0.9122|0.9122	M|M	0.85299|0.85299	2.745|2.745	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63046	.|0.96;0.992	.|P;P	.|0.60286	.|0.751;0.872	D|D	0.97168|0.97168	0.9842|0.9842	5|10	.|0.72032	.|D	.|0.01	-13.0665|-13.0665	20.6314|20.6314	0.99525|0.99525	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|449;449	.|B7Z5N6;Q5T1V6	.|.;DDX59_HUMAN	T|L	26|449;87;449;35;449;92	.|ENSP00000394367:V449L;ENSP00000394304:V87L;ENSP00000356317:V449L;ENSP00000330460:V449L;ENSP00000409954:V92L	.|ENSP00000330460:V449L	S|V	-|-	2|1	0|0	DDX59|DDX59	198884947|198884947	1.000000|1.000000	0.71417|0.71417	0.343000|0.343000	0.25615|0.25615	0.977000|0.977000	0.68977|0.68977	7.416000|7.416000	0.80143|0.80143	2.885000|2.885000	0.99019|0.99019	0.579000|0.579000	0.79373|0.79373	AGT|GTA			0.318	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086883.2		NM_001031725.4		G	200618324	C	G	200618324	3	3	77	1	0	0	0	0	1	0	0	0	4378	565	20	5	526	5	DDX59	1	200618324	Missense_Mutation	SNP	C	TCGA-2G-AAM2-01A-11D-A435-10	44055945	200618324	48632297	4	5475											
GCKR	2646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	27730108	27730108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaaacttcccagatttccGagatgtccgtggctttctca	8	14	7	12	2	1	2	1	0	1	2	5	3	4	2	3	1	1	1	3	1	2	4			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr2:27730108G>A	ENST00000264717.2	+	13	1136	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	GCKR_ENST00000424318.2_Missense_Mutation_p.R168Q	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	358	SIS 2. {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)					CCAGATTTCCGAGATGTCCGT	0.488																																					p.R358Q													GCKR,rectum,carcinoma,0,1	GCKR	0	1	0			c.G1073A												242	252	249					2																	27730108		2203	4300	6503	SO:0001583	missense	2646	exon13			ATTTCCGAGATGT	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.1073G>A	2.37:g.27730108G>A	ENSP00000264717:p.Arg358Gln		49	0	0		66	0.27	18	NM_001486	0		0	A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	CCDS1757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.018|7.018	0.558087|0.558087	0.13436|0.13436	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000411584|ENST00000264717;ENST00000424318	.|D;D	.|0.83419	.|-1.72;-1.72	4.8|4.8	-4.02|-4.02	0.04034|0.04034	.|Sugar isomerase (SIS) (1);	.|1.347880	.|0.04756	.|N	.|0.425533	T|T	0.63593|0.63593	0.2524|0.2524	N|N	0.08118|0.08118	0|0	0.24037|0.24037	N|N	0.996097|0.996097	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.08055	.|0.002;0.003;0.003	T|T	0.55373|0.55373	-0.8151|-0.8151	5|10	.|0.08179	.|T	.|0.78	3.6618|3.6618	10.9419|10.9419	0.47278|0.47278	0.6396:0.0:0.3604:0.0|0.6396:0.0:0.3604:0.0	.|.	.|168;356;358	.|F5H1P6;A8K731;Q14397	.|.;.;GCKR_HUMAN	K|Q	59|358;168	.|ENSP00000264717:R358Q;ENSP00000409109:R168Q	.|ENSP00000264717:R358Q	E|R	+|+	1|2	0|0	GCKR|GCKR	27583612|27583612	0.000000|0.000000	0.05858|0.05858	0.317000|0.317000	0.25265|0.25265	0.659000|0.659000	0.38960|0.38960	-1.682000|-1.682000	0.01935|0.01935	-0.701000|-0.701000	0.05063|0.05063	-0.137000|-0.137000	0.14449|0.14449	GAG|CGA			0.488	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250214.1		NM_001486		A	27730108	G	A	27730108	3	1	77	1	0	0	0	0	1	0	0	0	6308	1058	37	1	1123	1	GCKR	2	27730108	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10		27730108	215469265	5	5476											
ZAK	51776	broad.mit.edu	37	chr2	174130916	174130916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggattcctacgctgctgCtgtgagacggccccaggtgc	6	8	13	14	2	0	1	0	1	0	1	1	3	1	2	4	3	4	3	4	3	1	2			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr2:174130916C>T	ENST00000375213.3	+	20	1919	c.1841C>T	c.(1840-1842)gCt>gTt	p.A614V	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.A614V|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		614					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										TACGCTGCTGCTGTGAGACGG	0.498																																					p.A614V													.	ZAK	62		0			c.C1841T												59	57	57					2																	174130916		2011	4188	6199	SO:0001583	missense	0	exon20			CTGCTGCTGTGAG																												ENST00000375213.3:c.1841C>T	2.37:g.174130916C>T	ENSP00000364361:p.Ala614Val		101	0	0		114	0.04	5	NM_016653	7	0	0	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146025	0.94603	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	D;D	0.81659	-1.52;-1.52	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.86472	0.5941	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.87015	0.2125	10	0.87932	D	0	.	20.2119	0.98289	0.0:1.0:0.0:0.0	.	614	Q9NYL2	MLTK_HUMAN	V	614	ENSP00000387259:A614V;ENSP00000364361:A614V	ENSP00000364361:A614V	A	+	2	0	AC013461.1	173839162	1.000000	0.71417	0.949000	0.38748	0.801000	0.45260	6.769000	0.74985	2.784000	0.95788	0.585000	0.79938	GCT			0.498	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255401.1				T	174130916	C	T	174130916	3	4	77	1	0	0	0	0	1	0	0	0	17536	797	28	2	2300	2	ZAK	2	174130916	Missense_Mutation	SNP	C	TCGA-2G-AAM2-01A-11D-A435-10	146400808	174130916	69068457	6	5477											
RAD54L2	23132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	51694124	51694124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgaagatggtcggatGgctgcctcaggtgtgatggc	6	11	16	8	1	1	3	1	2	0	1	3	4	2	4	2	5	1	2	2	5	1	1			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr3:51694124G>A	ENST00000409535.2	+	21	3524	c.3399G>A	c.(3397-3399)atG>atA	p.M1133I	RAD54L2_ENST00000296477.3_Missense_Mutation_p.M827I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1133						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)		ATGGTCGGATGGCTGCCTCAG	0.418																																					p.M1133I													.	.			0			c.G3399A												110	86	94					3																	51694124		2203	4300	6503	SO:0001583	missense	23132	exon21			TCGGATGGCTGCC	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.3399G>A	3.37:g.51694124G>A	ENSP00000386520:p.Met1133Ile		108	0	0		156	0.23	36	NM_015106	17	0.47	8	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.67|13.67	2.307296|2.307296	0.40795|0.40795	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|D;D	.|0.92965	.|-3.04;-3.14	6.17|6.17	-2.4|-2.4	0.06583|0.06583	.|.	.|0.402448	.|0.31461	.|N	.|0.007619	T|T	0.76097|0.76097	0.3940|0.3940	N|N	0.08118|0.08118	0|0	0.26852|0.26852	N|N	0.968133|0.968133	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.63795|0.63795	-0.6556|-0.6556	5|10	.|0.36615	.|T	.|0.2	-0.0449|-0.0449	2.4994|2.4994	0.04630|0.04630	0.4594:0.1196:0.3004:0.1206|0.4594:0.1196:0.3004:0.1206	.|.	.|1133;722	.|Q9Y4B4;B3KV54	.|ARIP4_HUMAN;.	S|I	962|1133;827	.|ENSP00000386520:M1133I;ENSP00000296477:M827I	.|ENSP00000296477:M827I	G|M	+|+	1|3	0|0	RAD54L2|RAD54L2	51669164|51669164	0.992000|0.992000	0.36948|0.36948	0.981000|0.981000	0.43875|0.43875	0.975000|0.975000	0.68041|0.68041	0.220000|0.220000	0.17660|0.17660	-0.303000|-0.303000	0.08856|0.08856	-0.150000|-0.150000	0.13652|0.13652	GGC|ATG			0.418	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328700.2		NM_015106		A	51694124	G	A	51694124	3	1	77	1	0	0	0	0	1	0	0	0	13017	1348	47	3	3477	3	RAD54L2	3	51694124	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10		51694124	146328306	7	5478											
FLT4	2324	broad.mit.edu;ucsc.edu	37	chr5	180052904	180052904	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatcttgcagggtgtccaGggccgccagtgccactggat	8	8	13	12	1	1	0	0	0	1	0	2	1	2	1	4	3	3	1	4	3	1	1			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr5:180052904G>T	ENST00000261937.6	-	10	1464	c.1386C>A	c.(1384-1386)ccC>ccA	p.P462P	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.P462P|FLT4_ENST00000393347.3_Silent_p.P462P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	462	Ig-like C2-type 5.				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)	AGGGTGTCCAGGGCCGCCAGT	0.662																																					p.P462P	Colon(97;1075 1466 27033 27547 35871)												.	FLT4	356		0			c.C1386A												38	44	42					5																	180052904		2200	4296	6496	SO:0001819	synonymous_variant	2324	exon10			TGTCCAGGGCCGC	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.1386C>A	5.37:g.180052904G>T			55	0	0		44	0.09	4	NM_182925	2	0	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	CCDS4457.1																																																																																					0.662	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253527.4				T	180052904	G	T	180052904	2	4	77	1	0	0	0	0	0	0	0	1	5957	987	35	3		3	FLT4	5	180052904	Silent	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10		180052904	862356	8	5479											
MUC21	394263	hgsc.bcm.edu	37	chr6	30955043	30955043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcacagccaccaactctgGgtccagcacgacctccagtg	10	5	9	17	1	1	0	0	0	1	0	3	1	3	0	5	1	4	2	5	1	1	0	rs9262385	byFrequency	TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr6:30955043G>A	ENST00000376296.3	+	2	1332	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	364	28 X 15 AA approximate tandem repeats.|Ser-rich.			G -> E (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						ACCAACTCTGGGTCCAGCACG	0.632													a|||	106	0.0211661	0.0197	0.0576	5008	,	,		18768	0.0079		0.0179	False		,,,				2504	0.0143				p.G364E													MUC21,NS,neuroblastoma,0,1	MUC21	0	1	0			c.G1091A							A	GLU/GLY	25,4361		2,21,2170	143	141	141		1091	-6.6	0	6	dbSNP_118	141	46,8528		4,38,4245	no	missense	MUC21	NM_001010909.2	98	6,59,6415	AA,AG,GG		0.5365,0.57,0.5478	benign	364/567	30955043	71,12889	2193	4287	6480	SO:0001583	missense	394263	exon2			ACTCTGGGTCCAG	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.1091G>A	6.37:g.30955043G>A	ENSP00000365473:p.Gly364Glu		20	0.1	2		22	0.09	2	NM_001010909	0		0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	a	0.072	-1.201075	0.01581	0.0057	0.005365	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02323	4.34	4.44	-6.61	0.01818	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.46830	-0.9163	9	0.02654	T	1	0.4928	3.9243	0.09257	0.1415:0.3445:0.3555:0.1585	rs9262385	364	Q5SSG8	MUC21_HUMAN	E	214;364	ENSP00000365473:G364E	ENSP00000365473:G364E	G	+	2	0	MUC21	31063022	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.474000	0.02337	-1.580000	0.01644	-2.305000	0.00258	GGG	0.008		0.632	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909		A	30955043	G	A	30955043	3	1	77	1	0	0	0	0	1	0	0	0	9993	1232	43	3	1097	3	MUC21	6	30955043	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10		30955043	140160024	9	5480											
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	51612794	51612794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcaaaagaagagctggtgGccacaatgactgaattccta	15	8	10	8	0	1	4	1	2	0	2	2	4	2	4	2	2	1	1	2	2	6	2			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr6:51612794G>A	ENST00000371117.3	-	58	9895	c.9620C>T	c.(9619-9621)gCc>gTc	p.A3207V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A3207V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3207			A -> T (in ARPKD). {ECO:0000269|PubMed:19914852}.		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)					AGAGCTGGTGGCCACAATGAC	0.443																																					p.A3207V													.	.			0			c.C9620T												112	115	114					6																	51612794		2203	4300	6503	SO:0001583	missense	5314	exon58			CTGGTGGCCACAA	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.9620C>T	6.37:g.51612794G>A	ENSP00000360158:p.Ala3207Val		110	0	0		180	0.29	52	NM_170724	0		0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569101	0.86439	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88201	-2.15;-2.35	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93592	0.7954	M	0.72118	2.19	0.42572	D	0.993183	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.996	D	0.93538	0.6875	10	0.66056	D	0.02	.	18.9315	0.92568	0.0:0.0:1.0:0.0	.	3207;3207;3207	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	3207	ENSP00000360158:A3207V;ENSP00000341097:A3207V	ENSP00000341097:A3207V	A	-	2	0	PKHD1	51720753	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.709000	0.54853	2.716000	0.92895	0.655000	0.94253	GCC			0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040893.1		NM_138694		A	51612794	G	A	51612794	3	1	77	1	0	0	0	0	1	0	0	0	11988	1203	42	2	2683	2	PKHD1	6	51612794	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10	20657751	51612794	119502273	10	5481											
ARMC2	84071	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	chr6	109274550	109274550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcctgctcctgaccacGctgggtgagaaccgcagccc	6	6	14	15	2	0	2	0	2	0	1	1	3	1	2	5	2	3	3	5	2	1	0	rs552011948		TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr6:109274550G>A	ENST00000392644.4	+	13	2079	c.1911G>A	c.(1909-1911)acG>acA	p.T637T	ARMC2_ENST00000368972.3_Silent_p.T472T	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	637										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCCTGACCACGCTGGGTGAGA	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		14981	0		0	False		,,,				2504	0				p.T637T													.	.			0			c.G1911A												14	16	16					6																	109274550		2194	4292	6486	SO:0001819	synonymous_variant	84071	exon13			GACCACGCTGGGT	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1911G>A	6.37:g.109274550G>A			11	0	0		17	0.41	7	NM_032131	2	0	0	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	CCDS5069.2																																																																																					0.602	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041732.2		NM_032131		A	109274550	G	A	109274550	2	1	77	1	0	0	0	0	0	0	0	1	951	1074	38	1		1	ARMC2	6	109274550	Silent	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10	57661756	109274550	61840517	11	5482											
MTERF	7978	broad.mit.edu	37	chr7	91503609	91503609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgttattggaccgaaaaaAggattcaggagaacgttcca	14	10	11	6	2	1	1	1	0	0	1	2	5	2	3	2	3	1	3	2	3	5	5			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr7:91503609A>G	ENST00000351870.3	-	3	592	c.499T>C	c.(499-501)Ttt>Ctt	p.F167L	MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Missense_Mutation_p.F147L|MTERF_ENST00000419292.1_Missense_Mutation_p.F147L	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		167					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GACCGAAAAAAGGATTCAGGA	0.388																																					p.F167L													.	MTERF	32		0			c.T499C												84	86	85					7																	91503609		2203	4300	6503	SO:0001583	missense	7978	exon3			GAAAAAAGGATTC																												ENST00000351870.3:c.499T>C	7.37:g.91503609A>G	ENSP00000248643:p.Phe167Leu		76	0	0		106	0.04	4	NM_006980	39	0	0	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.809066	0.90707	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.05786	3.39;3.39;3.39	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	M	0.70275	2.135	0.53688	D	0.999972	D	0.89917	1.0	D	0.87578	0.998	T	0.13953	-1.0490	10	0.06365	T	0.9	-14.5204	13.692	0.62550	1.0:0.0:0.0:0.0	.	167	Q99551	MTERF_HUMAN	L	147;167;147	ENSP00000414116:F147L;ENSP00000248643:F167L;ENSP00000384986:F147L	ENSP00000248643:F167L	F	-	1	0	MTERF	91341545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.969000	0.87988	2.025000	0.59659	0.482000	0.46254	TTT			0.388	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000342896.1				G	91503609	A	G	91503609	3	3	77	1	0	0	0	0	1	0	0	0	9934	72	3	4	704	4	MTERF	7	91503609	Missense_Mutation	SNP	A	TCGA-2G-AAM2-01A-11D-A435-10		91503609	67635054	12	5483											
GIGYF1	64599	ucsc.edu	37	chr7	100282144	100282144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgatcacctcgcccagcgGctggaagccctcatcgcagc	7	7	10	17	3	2	1	2	1	0	0	4	2	2	2	3	2	3	2	3	2	1	1			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr7:100282144G>A	ENST00000275732.5	-	13	2767	c.1558C>T	c.(1558-1560)Ccg>Tcg	p.P520S	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	520	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.				insulin-like growth factor receptor signaling pathway (GO:0048009)					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)					TCGCCCAGCGGCTGGAAGCCC	0.652																																					p.P520S													.	GIGYF1	113		0			c.C1558T												52	60	57					7																	100282144		2203	4300	6503	SO:0001583	missense	64599	exon13			CCAGCGGCTGGAA	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.1558C>T	7.37:g.100282144G>A	ENSP00000275732:p.Pro520Ser		35	0	0		42	0.1	4	NM_022574	172	0	0	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	17.63	3.437184	0.62955	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.85411	-1.98	4.9	4.9	0.64082	GYF (4);	0.000000	0.85682	D	0.000000	D	0.90164	0.6926	M	0.64567	1.98	0.80722	D	1	P	0.38048	0.616	P	0.56788	0.806	D	0.88661	0.3189	10	0.38643	T	0.18	-10.4821	15.6139	0.76750	0.0:0.0:1.0:0.0	.	520	O75420	PERQ1_HUMAN	S	239;520	ENSP00000275732:P520S	ENSP00000275732:P520S	P	-	1	0	GIGYF1	100120080	1.000000	0.71417	0.995000	0.50966	0.008000	0.06430	9.657000	0.98554	2.558000	0.86282	0.491000	0.48974	CCG			0.652	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347205.2		NM_022574		A	100282144	G	A	100282144	3	1	77	1	0	0	0	0	1	0	0	0	6391	1203	42	2	1597	2	GIGYF1	7	100282144	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10	8778535	100282144	58856519	13	5484											
ZNF398	57541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	148863275	148863275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtggcatttgatgatgtctCcatctacttttccactccag	7	16	7	11	0	2	2	0	2	2	0	5	2	4	2	3	1	1	1	3	1	1	4			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr7:148863275C>G	ENST00000475153.1	+	3	713	c.446C>G	c.(445-447)tCc>tGc	p.S149C	ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.S154C			Q8TD17	ZN398_HUMAN	zinc finger protein 398	149	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GATGATGTCTCCATCTACTTT	0.378																																					p.S149C													.	.			0			c.C446G												109	108	108					7																	148863275		2203	4300	6503	SO:0001583	missense	57541	exon3			ATGTCTCCATCTA	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.446C>G	7.37:g.148863275C>G	ENSP00000420418:p.Ser149Cys		123	0	0		144	0.28	41	NM_170686	106	0.25	26	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676510	0.67928	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.01838	4.61;4.61	4.91	4.91	0.64330	Krueppel-associated box (4);	0.000000	0.42682	D	0.000675	T	0.06645	0.0170	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.983	T	0.19192	-1.0313	10	0.87932	D	0	-21.8821	9.2569	0.37588	0.0:0.9014:0.0:0.0986	.	154;149	B4DXA9;Q8TD17	.;ZN398_HUMAN	C	149;154	ENSP00000420418:S149C;ENSP00000439340:S154C	ENSP00000420418:S149C	S	+	2	0	ZNF398	148494208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.097000	0.50251	2.268000	0.75426	0.467000	0.42956	TCC			0.378	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352722.2				G	148863275	C	G	148863275	3	3	77	1	0	0	0	0	1	0	0	0	17908	855	30	5	456	5	ZNF398	7	148863275	Missense_Mutation	SNP	C	TCGA-2G-AAM2-01A-11D-A435-10	48581131	148863275	10275388	14	5485											
ST18	9705	broad.mit.edu	37	chr8	53062411	53062411	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaatgctgcttgttttgaAtggggaagaggaaggagttg	11	11	16	3	0	0	3	0	1	0	2	0	6	0	6	0	4	2	4	0	4	4	4			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr8:53062411A>G	ENST00000276480.7	-	16	2616	c.1933T>C	c.(1933-1935)Ttc>Ctc	p.F645L	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	645					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)				CTTGTTTTGAATGGGGAAGAG	0.448																																					p.F645L													.	ST18	212		0			c.T1933C												167	154	158					8																	53062411		2203	4300	6503	SO:0001583	missense	9705	exon16			TTTTGAATGGGGA	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.1933T>C	8.37:g.53062411A>G	ENSP00000276480:p.Phe645Leu		73	0	0		140	0.02	3	NM_014682	0		0	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669467	0.29693	.	.	ENSG00000147488	ENST00000276480	T	0.43294	0.95	5.53	5.53	0.82687	Myelin transcription factor 1 (1);	0.100028	0.64402	D	0.000001	T	0.32436	0.0829	L	0.35288	1.05	0.45883	D	0.998735	B	0.12013	0.005	B	0.18871	0.023	T	0.12630	-1.0540	10	0.10902	T	0.67	-13.5352	15.6592	0.77169	1.0:0.0:0.0:0.0	.	645	O60284	ST18_HUMAN	L	645	ENSP00000276480:F645L	ENSP00000276480:F645L	F	-	1	0	ST18	53224964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.754000	0.55189	2.110000	0.64415	0.377000	0.23210	TTC			0.448	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377867.1				G	53062411	A	G	53062411	3	3	77	1	0	0	0	0	1	0	0	0	15235	101	4	4	1254	4	ST18	8	53062411	Missense_Mutation	SNP	A	TCGA-2G-AAM2-01A-11D-A435-10		53062411	93301611	15	5486											
PPA1	5464	hgsc.bcm.edu	37	chr10	71969413	71969413	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtagcttctaagtagccAggtttcagccgtttgacatc	10	12	9	10	1	2	1	1	1	1	0	3	1	2	1	2	1	3	5	2	1	3	6			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr10:71969413A>G	ENST00000373232.3	-	7	639	c.540T>C	c.(538-540)ccT>ccC	p.P180P		NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	180					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						CTAAGTAGCCAGGTTTCAGCC	0.348																																					p.P180P													PPA1,NS,carcinoma,-1,1	PPA1	-1	1	0			c.T540C												104	107	106					10																	71969413		2203	4300	6503	SO:0001819	synonymous_variant	5464	exon7			GTAGCCAGGTTTC	AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"cytosolic inorganic pyrophosphatase", "inorganic pyrophosphatase 1", "pyrophosphate phospho-hydrolase"	179030	"pyrophosphatase (inorganic)"	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.540T>C	10.37:g.71969413A>G			108	0.0185185185	2		127	0.06	7	NM_021129	543	0	1	Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Silent	SNP	ENST00000373232.3	37	CCDS7299.1																																																																																					0.348	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048490.2		NM_021129		G	71969413	A	G	71969413	2	3	77	1	0	0	0	0	0	0	0	1	12303	175	7	4		4	PPA1	10	71969413	Silent	SNP	A	TCGA-2G-AAM2-01A-11D-A435-10		71969413	63565334	16	5487											
PPRC1	23082	ucsc.edu	37	chr10	103904028	103904028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaggagtgtcctcctcCggctcctgctgacagcttgg	8	9	11	13	1	0	1	0	1	0	0	4	2	4	2	4	3	2	3	4	3	2	1			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr10:103904028C>T	ENST00000278070.2	+	7	3611	c.3572C>T	c.(3571-3573)cCg>cTg	p.P1191L	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Missense_Mutation_p.P158L|PPRC1_ENST00000413464.2_Missense_Mutation_p.P1191L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1191					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)		TGTCCTCCTCCGGCTCCTGCT	0.522																																					p.P1191L													.	PPRC1	151		0			c.C3572T												83	79	80					10																	103904028		2203	4300	6503	SO:0001583	missense	23082	exon7			CTCCTCCGGCTCC	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.3572C>T	10.37:g.103904028C>T	ENSP00000278070:p.Pro1191Leu		45	0	0		40	0.1	4	NM_015062	109	0	0	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908500	0.52333	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.28895	2.01;2.0;1.59	5.25	-0.522	0.11928	.	0.593417	0.17954	N	0.156418	T	0.12390	0.0301	N	0.08118	0	0.52099	D	0.999943	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.06716	-1.0811	10	0.49607	T	0.09	.	4.2134	0.10522	0.2517:0.2442:0.0:0.5041	.	1191;1071;1191	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	1191;1191;158	ENSP00000278070:P1191L;ENSP00000399743:P1191L;ENSP00000359029:P158L	ENSP00000278070:P1191L	P	+	2	0	PPRC1	103894018	0.336000	0.24757	0.995000	0.50966	0.959000	0.62525	-0.523000	0.06230	0.003000	0.14656	-0.339000	0.08088	CCG			0.522	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050021.1		NM_015062		T	103904028	C	T	103904028	3	4	77	1	0	0	0	0	1	0	0	0	12430	652	23	1	3598	1	PPRC1	10	103904028	Missense_Mutation	SNP	C	TCGA-2G-AAM2-01A-11D-A435-10	31934615	103904028	31630719	17	5488											
ATN1	1822	hgsc.bcm.edu	37	chr12	7045915	7045915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcagcagca	14	0	13	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	13	0	0	0	0	rs148885085	byFrequency	TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr12:7045915G>T	ENST00000356654.4	+	5	1722	c.1485G>T	c.(1483-1485)caG>caT	p.Q495H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q495H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	495	Poly-Gln.				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)			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						agcagcagcagcagcagcagc	0.642																																					p.Q495H													ATN1,colon,carcinoma,0,1	ATN1	0	1	0			c.G1485T												40	52	48					12																	7045915		2181	4270	6451	SO:0001583	missense	1822	exon5			GCAGCAGCAGCAG	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.1485G>T	12.37:g.7045915G>T	ENSP00000349076:p.Gln495His		44	0.0227272727	1		190	0.05	9	NM_001007026	497	0	1	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	0.610	-0.825352	0.02734	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.50277	0.75;0.75;0.75	.	.	.	.	.	.	.	.	T	0.23410	0.0566	N	0.02011	-0.69	0.09310	N	1	P	0.43826	0.818	P	0.46629	0.522	T	0.12837	-1.0532	7	0.33940	T	0.23	.	.	.	.	.	495	P54259	ATN1_HUMAN	H	495;495;495;80	ENSP00000349076:Q495H;ENSP00000379915:Q495H;ENSP00000441744:Q495H	ENSP00000229279:Q80H	Q	+	3	2	ATN1	6916176	0.036000	0.19791	0.514000	0.27761	0.306000	0.27790	0.389000	0.20751	0.000000	0.14550	0.000000	0.15137	CAG			0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401948.2		NM_001940		T	7045915	G	T	7045915	3	4	77	1	0	0	0	0	1	0	0	0	1111	962	34	2	1499	2	ATN1	12	7045915	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10		7045915	126805980	18	5489											
LMO3	55885	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	16713458	16713458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaggcagcgcagtttcccGttacaccaaagagcctagaa	13	7	9	12	2	0	2	0	0	0	2	1	2	1	2	3	1	4	4	3	1	5	4			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr12:16713458G>T	ENST00000320122.6	-	3	743	c.221C>A	c.(220-222)aCg>aAg	p.T74K	LMO3_ENST00000540445.1_Missense_Mutation_p.T96K|LMO3_ENST00000354662.1_Missense_Mutation_p.T74K|LMO3_ENST00000534946.1_Missense_Mutation_p.T74K|LMO3_ENST00000541295.1_Missense_Mutation_p.T92K|LMO3_ENST00000540848.1_Missense_Mutation_p.T74K|LMO3_ENST00000441439.2_Missense_Mutation_p.T74K|LMO3_ENST00000535535.1_Missense_Mutation_p.T74K|LMO3_ENST00000447609.1_Missense_Mutation_p.T74K|LMO3_ENST00000537304.1_Missense_Mutation_p.T74K|LMO3_ENST00000261169.6_Missense_Mutation_p.T85K|LMO3_ENST00000541846.1_Missense_Mutation_p.T74K	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				GCAGTTTCCCGTTACACCAAA	0.413																																					p.T96K													.	.			0			c.C287A												105	84	91					12																	16713458		2203	4300	6503	SO:0001583	missense	55885	exon5			TTTCCCGTTACAC	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.221C>A	12.37:g.16713458G>T	ENSP00000312856:p.Thr74Lys		83	0	0		247	0.06	14	NM_001243613	4	0.25	1	B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	ENST00000320122.6	37	CCDS8678.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427564	0.62733	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846;ENST00000539534;ENST00000546281;ENST00000537757;ENST00000546279;ENST00000538051;ENST00000545436;ENST00000540590	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60040	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;0.22;0.54	4.58	4.58	0.56647	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	L	0.31578	0.945	0.80722	D	1	P;P;P;P	0.50710	0.938;0.854;0.719;0.767	P;B;B;B	0.48982	0.597;0.414;0.302;0.273	T	0.59311	-0.7478	10	0.54805	T	0.06	.	15.7204	0.77705	0.0:0.0:1.0:0.0	.	96;92;74;85	B4DH35;B4DG90;Q8TAP4;Q58A67	.;.;LMO3_HUMAN;.	K	74;74;74;74;85;54;74;74;74;92;74;96;74;74;74;74;74;74;74;74	ENSP00000346689:T74K;ENSP00000412479:T74K;ENSP00000413703:T74K;ENSP00000312856:T74K;ENSP00000261169:T85K;ENSP00000445751:T74K;ENSP00000446115:T74K;ENSP00000440099:T74K;ENSP00000446463:T92K;ENSP00000439275:T74K;ENSP00000442786:T96K;ENSP00000444393:T74K;ENSP00000443807:T74K;ENSP00000442713:T74K;ENSP00000445193:T74K;ENSP00000441360:T74K;ENSP00000445504:T74K;ENSP00000444269:T74K;ENSP00000439989:T74K	ENSP00000261169:T85K	T	-	2	0	LMO3	16604725	1.000000	0.71417	0.630000	0.29268	0.802000	0.45316	8.883000	0.92426	2.363000	0.80096	0.591000	0.81541	ACG			0.413	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401279.1		NM_018640		T	16713458	G	T	16713458	3	4	77	1	0	0	0	0	1	0	0	0	8868	1145	40	1	224	1	LMO3	12	16713458	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10	9667543	16713458	117138437	19	5490											
DDX11	1663	broad.mit.edu	37	chr12	31238044	31238044	+	Frame_Shift_Del	DEL	A	A	-																															aatacgagagtgatgaggagAaaaaggtggcgagcaggtga																										TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr12:31238044delA	ENST00000407793.2	+	5	873	c.622delA	c.(622-624)aaafs	p.K209fs	DDX11_ENST00000228264.6_Frame_Shift_Del_p.K183fs|DDX11_ENST00000350437.4_Frame_Shift_Del_p.K209fs|DDX11_ENST00000545668.1_Frame_Shift_Del_p.K209fs|DDX11_ENST00000251758.5_Frame_Shift_Del_p.K209fs|DDX11_ENST00000542838.1_Frame_Shift_Del_p.K209fs	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	209	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGAGGAGAAAAAGGTGGC	0.617										Multiple Myeloma(12;0.14)																											p.K208fs													.	DDX11	188		0			c.622delA												31	31	31					12																	31238044		2194	4282	6476	SO:0001589	frameshift_variant	1663	exon5			GAGGAGAAAAAGG	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.622delA	12.37:g.31238044delA	ENSP00000384703:p.Lys209fs		178	0	0		805	0.01	8	NM_030653	268	0	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Del	DEL	ENST00000407793.2	37	CCDS44856.1																																																																																					0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653		-	31238044	A	-	31238044	7	5	77	1	0	1	0	1	0	0	0	0	4345	247	9	0	636	0	DDX11	12	31238044	Frame_Shift_Del	DEL	A	TCGA-2G-AAM2-01A-11D-A435-10	14524586	31238044	102613851	20	5491											
KRT72	140807	broad.mit.edu;bcgsc.ca	37	chr12	52985290	52985290	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctcggccttgctctttagGgcaatctcctcgtactgggc	4	12	11	14	2	2	0	0	0	2	0	5	0	2	0	3	3	2	3	3	3	3	4			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr12:52985290G>T	ENST00000537672.2	-	5	931	c.921C>A	c.(919-921)gcC>gcA	p.A307A	KRT72_ENST00000293745.2_Silent_p.A307A|KRT72_ENST00000354310.4_Silent_p.A307A|KRT72_ENST00000398066.3_Silent_p.A119A	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	307	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGCTCTTTAGGGCAATCTCCT	0.582																																					p.A307A													.	KRT72	70		0			c.C921A												153	114	127					12																	52985290		2203	4300	6503	SO:0001819	synonymous_variant	140807	exon5			CTTTAGGGCAATC	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.921C>A	12.37:g.52985290G>T			74	0	0		110	0.29	32	NM_001146225	1	1	1	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	CCDS8833.1																																																																																					0.582	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405693.1		NM_080747		T	52985290	G	T	52985290	2	4	77	1	0	0	0	0	0	0	0	1	8500	1219	43	3		3	KRT72	12	52985290	Silent	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10	21747246	52985290	80866605	21	5492											
ANAPC5	51433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	121775139	121775139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacaaattgtttaattcCttctgcaaggaagctggagt	12	14	8	7	0	2	0	1	0	1	0	3	2	3	2	1	2	3	3	1	2	5	6			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr12:121775139C>T	ENST00000261819.3	-	6	835	c.714G>A	c.(712-714)aaG>aaA	p.K238K	ANAPC5_ENST00000344395.4_Silent_p.K139K|ANAPC5_ENST00000441917.2_Silent_p.K139K|ANAPC5_ENST00000544314.1_5'Flank|ANAPC5_ENST00000541887.1_Silent_p.K238K|ANAPC5_ENST00000536366.1_Silent_p.K117K	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	238					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)					TGTTTAATTCCTTCTGCAAGG	0.373																																					p.K238K													.	.			0			c.G714A												97	100	99					12																	121775139		2203	4300	6503	SO:0001819	synonymous_variant	51433	exon6			TAATTCCTTCTGC	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.714G>A	12.37:g.121775139C>T			62	0	0		53	0.57	30	NM_016237	154	0.66	102	E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	ENST00000261819.3	37	CCDS9220.1																																																																																					0.373	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402582.1				T	121775139	C	T	121775139	2	4	77	1	0	0	0	0	0	0	0	1	605	680	24	3		3	ANAPC5	12	121775139	Silent	SNP	C	TCGA-2G-AAM2-01A-11D-A435-10	68789849	121775139	12076756	22	5493											
IRS2	8660	hgsc.bcm.edu;broad.mit.edu	37	chr13	110435932	110435932	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgggggagctcatgagcacGtactggtcgctgtccccgcc	6	7	14	14	4	1	1	1	1	0	0	3	2	2	2	3	3	3	4	3	3	1	1			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr13:110435932G>T	ENST00000375856.3	-	1	2983	c.2469C>A	c.(2467-2469)taC>taA	p.Y823*		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	823					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)			TCATGAGCACGTACTGGTCGC	0.731																																					p.Y823X	Melanoma(100;613 2409 40847)												.	.			0			c.C2469A												5	7	6					13																	110435932		2038	4065	6103	SO:0001587	stop_gained	8660	exon1			GAGCACGTACTGG	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.2469C>A	13.37:g.110435932G>T	ENSP00000365016:p.Tyr823*		64	0	0		57	0.28	16	NM_003749	11	0.73	8	Q96RR2|Q9BZG0|Q9Y6I5	Nonsense_Mutation	SNP	ENST00000375856.3	37	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	G	42	9.511810	0.99192	.	.	ENSG00000185950	ENST00000375856	.	.	.	5.14	-4.65	0.03339	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5849	15.1825	0.72972	0.6893:0.0:0.3107:0.0	.	.	.	.	X	823	.	ENSP00000365016:Y823X	Y	-	3	2	IRS2	109233933	0.782000	0.28689	0.960000	0.40013	0.944000	0.59088	-0.145000	0.10265	-0.883000	0.03982	-0.390000	0.06520	TAC			0.731	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045755.1		NM_003749		T	110435932	G	T	110435932	4	4	77	1	0	0	0	0	0	1	0	0	7856	1140	40	1	1555	1	IRS2	13	110435932	Nonsense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10		110435932	4733946	23	5494											
MAPK1IP1L	93487	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	55529374	55529374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacactcccctgccaaaacCtctgctgtgagcaatacaaa	14	7	6	14	0	1	1	0	1	1	0	2	2	2	1	4	0	6	2	4	0	6	1			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr14:55529374C>T	ENST00000395468.4	+	3	234	c.57C>T	c.(55-57)acC>acT	p.T19T	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	19										endometrium(2)|large_intestine(1)|lung(3)	6						CTGCCAAAACCTCTGCTGTGA	0.488																																					p.T19T													.	MAPK1IP1L	14		0			c.C57T												45	47	46					14																	55529374		2203	4300	6503	SO:0001819	synonymous_variant	93487	exon3			CAAAACCTCTGCT	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 32", "mitogen activated protein kinase 1 interacting protein 1-like"	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.57C>T	14.37:g.55529374C>T			70	0.0142857143	1		72	0.39	28	NM_144578	227	0.44	100	B2RDD8|Q96BG5	Silent	SNP	ENST00000395468.4	37	CCDS32085.1																																																																																					0.488	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411302.2		NM_144578		T	55529374	C	T	55529374	2	4	77	1	0	0	0	0	0	0	0	1	9294	668	24	3		3	MAPK1IP1L	14	55529374	Silent	SNP	C	TCGA-2G-AAM2-01A-11D-A435-10		55529374	51820166	24	5495											
DYNC1H1	1778	broad.mit.edu	37	chr14	102496591	102496591	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagatcttgataaggtGgaacctgccgtcattgaggc	13	9	12	7	1	2	4	1	2	1	2	2	5	2	5	2	3	2	0	2	3	4	3			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr14:102496591G>T	ENST00000360184.4	+	51	10019	c.9855G>T	c.(9853-9855)gtG>gtT	p.V3285V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3285	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTGATAAGGTGGAACCTGCCG	0.458																																					p.V3285V													.	DYNC1H1	395		0			c.G9855T												121	101	108					14																	102496591		2203	4300	6503	SO:0001819	synonymous_variant	1778	exon51			TAAGGTGGAACCT	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.9855G>T	14.37:g.102496591G>T			78	0	0		54	0.06	3	NM_001376	187	0	0	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																					0.458	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414574.1		NM_001376		T	102496591	G	T	102496591	2	4	77	1	0	0	0	0	0	0	0	1	4846	1335	47	3		3	DYNC1H1	14	102496591	Silent	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10	46967217	102496591	4852949	25	5496											
CCDC78	124093	ucsc.edu	37	chr16	772996	772996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgtggcccggaccagcagCtgtgcccgctcccgttccag	5	7	12	17	4	0	0	0	0	0	0	3	1	2	1	5	2	3	4	5	2	0	1			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr16:772996C>T	ENST00000293889.6	-	13	1328	c.1223G>A	c.(1222-1224)aGc>aAc	p.S408N		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	408					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GGACCAGCAGCTGTGCCCGCT	0.647																																					p.S408N													.	CCDC78	26		0			c.G1223A												57	50	53					16																	772996		2197	4296	6493	SO:0001583	missense	124093	exon13			CAGCAGCTGTGCC	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.1223G>A	16.37:g.772996C>T	ENSP00000293889:p.Ser408Asn		32	0	0		41	0.1	4	NM_001031737	25	0	0	B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281358	0.40394	.	.	ENSG00000162004	ENST00000345165;ENST00000293889	T	0.47177	0.85	4.55	3.49	0.39957	.	0.604741	0.14355	N	0.324825	T	0.38054	0.1026	L	0.36672	1.1	0.23519	N	0.997509	P	0.37101	0.582	B	0.38803	0.282	T	0.32824	-0.9892	10	0.87932	D	0	-1.8728	7.9227	0.29857	0.1732:0.7307:0.0:0.0961	.	408	A2IDD5	CCD78_HUMAN	N	258;408	ENSP00000293889:S408N	ENSP00000293889:S408N	S	-	2	0	CCDC78	712997	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.129000	0.31381	2.067000	0.61834	0.462000	0.41574	AGC			0.647	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241665.3		NM_173476		T	772996	C	T	772996	3	4	77	1	0	0	0	0	1	0	0	0	2854	797	28	2	101	2	CCDC78	16	772996	Missense_Mutation	SNP	C	TCGA-2G-AAM2-01A-11D-A435-10		772996	89581757	26	5497											
SMG1	23049	broad.mit.edu	37	chr16	18844328	18844328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagctgcgtttcttaagtagGcctgaagagattccactaga	11	12	10	8	1	1	3	0	1	1	2	2	4	2	3	2	1	2	3	2	1	5	6			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr16:18844328G>T	ENST00000446231.2	-	51	9138	c.8726C>A	c.(8725-8727)gCc>gAc	p.A2909D	SMG1_ENST00000389467.3_Missense_Mutation_p.A2909D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2909					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						TCTTAAGTAGGCCTGAAGAGA	0.488																																					p.A2909D													.	SMG1	401		0			c.C8726A												262	250	254					16																	18844328		1941	4146	6087	SO:0001583	missense	23049	exon51			AAGTAGGCCTGAA	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.8726C>A	16.37:g.18844328G>T	ENSP00000402515:p.Ala2909Asp		126	0	0		172	0.02	4	NM_015092	28	0	0	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121616	0.77436	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01092	5.35;5.35	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.01558	0.0050	N	0.19112	0.55	0.43122	D	0.994844	B	0.27498	0.18	B	0.27796	0.083	T	0.68599	-0.5366	10	0.66056	D	0.02	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	2909	Q96Q15	SMG1_HUMAN	D	2909	ENSP00000402515:A2909D;ENSP00000374118:A2909D	ENSP00000374118:A2909D	A	-	2	0	SMG1	18751829	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.107000	0.94261	2.799000	0.96334	0.650000	0.86243	GCC			0.488	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000391817.1		NM_015092		T	18844328	G	T	18844328	3	4	77	1	0	0	0	0	1	0	0	0	14818	1203	42	2	2311	2	SMG1	16	18844328	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10	18071332	18844328	71510425	27	5498											
CCDC102A	92922	ucsc.edu	37	chr16	57552624	57552624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacatgcggcccagctcGtcctggtgcgcctccttcag	5	9	11	16	3	2	1	2	0	0	1	5	1	4	1	4	2	3	1	4	2	0	1	rs141241860	byFrequency	TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr16:57552624G>A	ENST00000258214.2	-	5	1197	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	317										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GGCCCAGCTCGTCCTGGTGCG	0.632													g|||	2	0.000399361	0	0	5008	,	,		20491	0		0.002	False		,,,				2504	0				p.D317D													.	CCDC102A	22		0			c.C951T									0,4396		0,0,2198	44	32	36		951	-8.2	0.8	16	dbSNP_134	36	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	CCDC102A	NM_033212.3		0,12,6486	AA,AG,GG		0.1395,0.0,0.0923		317/551	57552624	12,12984	2198	4300	6498	SO:0001819	synonymous_variant	92922	exon5			CAGCTCGTCCTGG	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.951C>T	16.37:g.57552624G>A			30	0	0		33	0.12	4	NM_033212	35	0	0	Q9BT74	Silent	SNP	ENST00000258214.2	37	CCDS10784.1																																																																																					0.632	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257348.1		NM_033212		A	57552624	G	A	57552624	2	1	77	1	0	0	0	0	0	0	0	1	2738	1136	40	1		1	CCDC102A	16	57552624	Silent	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10	38708296	57552624	32802129	28	5499											
BAHCC1	57597	ucsc.edu	37	chr17	79410887	79410887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggaggctgaggaggaGaggacgaggctatgtgatga	11	6	19	5	1	0	4	0	3	0	1	0	10	0	7	1	6	0	2	1	6	1	1			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr17:79410887G>T	ENST00000307745.7	+	10	2268	c.2268G>T	c.(2266-2268)gaG>gaT	p.E756D	RP11-1055B8.7_ENST00000570375.1_3'UTR																							CTGAGGAGGAGAGGACGAGGC	0.697																																					.													.	BAHCC1	110		0			.												29	37	34					17																	79410887		1977	3931	5908	SO:0001583	missense	57597	.			GGAGGAGAGGACG																												ENST00000307745.7:c.2268G>T	17.37:g.79410887G>T	ENSP00000303486:p.Glu756Asp		11	0	0		22	0.18	4	.	0		0		Missense_Mutation	SNP	ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	G	11.67	1.706431	0.30232	.	.	ENSG00000171282	ENST00000307745	T	0.14640	2.49	4.06	-3.87	0.04218	.	0.138120	0.29668	N	0.011518	T	0.08802	0.0218	L	0.41632	1.29	0.33817	D	0.628584	P	0.38020	0.615	B	0.37091	0.241	T	0.08785	-1.0705	10	0.72032	D	0.01	.	5.7771	0.18285	0.4838:0.2576:0.2587:0.0	.	756	Q9P281	BAHC1_HUMAN	D	756	ENSP00000303486:E756D	ENSP00000303486:E756D	E	+	3	2	AC110285.1	77025482	0.017000	0.18338	0.024000	0.17045	0.393000	0.30537	-1.322000	0.02695	-0.990000	0.03481	0.650000	0.86243	GAG			0.697	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding						T	79410887	G	T	79410887	3	4	77	1	0	0	0	0	1	0	0	0	1296	933	33	3	2121	3	BAHCC1	17	79410887	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10		79410887	1784323	29	5500											
LIG1	3978	bcgsc.ca	37	chr19	48634358	48634358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcggctgatgatgtccGggtacttcccagtgttgtct	5	13	14	9	2	1	2	0	2	1	0	3	3	3	3	2	3	2	3	2	3	1	3			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr19:48634358G>T	ENST00000263274.7	-	19	2215	c.1796C>A	c.(1795-1797)cCg>cAg	p.P599Q	LIG1_ENST00000536218.1_Missense_Mutation_p.P531Q|LIG1_ENST00000427526.2_Missense_Mutation_p.P568Q	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	599					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|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)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GATGATGTCCGGGTACTTCCC	0.597								Nucleotide excision repair (NER)																													p.P599Q													.	LIG1	151		0			c.C1796A												224	145	172					19																	48634358		2203	4300	6503	SO:0001583	missense	3978	exon19			ATGTCCGGGTACT		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1796C>A	19.37:g.48634358G>T	ENSP00000263274:p.Pro599Gln		51	0	0		45	0.09	4	NM_000234	305	0	0	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823751	0.90873	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T;T;T	0.58652	0.32;0.32;0.32	5.29	5.29	0.74685	DNA ligase, ATP-dependent, central (1);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	H	0.97896	4.1	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	0.90485	0.4463	10	0.87932	D	0	-20.2209	16.8022	0.85617	0.0:0.0:1.0:0.0	.	568;531;599	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	Q	599;630;568;531	ENSP00000263274:P599Q;ENSP00000442841:P568Q;ENSP00000441531:P531Q	ENSP00000263274:P599Q	P	-	2	0	LIG1	53326170	1.000000	0.71417	0.961000	0.40146	0.990000	0.78478	9.061000	0.93913	2.647000	0.89833	0.650000	0.86243	CCG			0.597	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465575.1		NM_000234		T	48634358	G	T	48634358	3	4	77	1	0	0	0	0	1	0	0	0	8796	1116	39	1	1003	1	LIG1	19	48634358	Missense_Mutation	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10		48634358	10494625	30	5501											
MYH14	79784	ucsc.edu	37	chr19	50764815	50764815	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggggtcctggcccagctGgaagaggagcgagacctgaa	9	5	17	10	1	0	3	0	1	0	2	1	6	1	5	3	5	2	2	3	5	2	0			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr19:50764815G>T	ENST00000596571.1	+	18	2385	c.2385G>T	c.(2383-2385)ctG>ctT	p.L795L	MYH14_ENST00000601313.1_Silent_p.L836L|MYH14_ENST00000598205.1_Silent_p.L803L|MYH14_ENST00000425460.1_Silent_p.L803L|MYH14_ENST00000376970.2_Silent_p.L828L|MYH14_ENST00000440075.2_Silent_p.L836L|MYH14_ENST00000262269.8_Silent_p.L836L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	795	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)		TGGCCCAGCTGGAAGAGGAGC	0.647																																					p.L836L													.	MYH14	261		0			c.G2508T												37	42	40					19																	50764815		2096	4239	6335	SO:0001819	synonymous_variant	79784	exon21			CCAGCTGGAAGAG	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.2385G>T	19.37:g.50764815G>T			25	0	0		39	0.1	4	NM_001145809	35	0	0	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																					0.647	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464710.2		NM_024729		T	50764815	G	T	50764815	2	4	77	1	0	0	0	0	0	0	0	1	10049	1335	47	3		3	MYH14	19	50764815	Silent	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10	2130457	50764815	8364168	31	5502											
CEACAM18	729767	bcgsc.ca	37	chr19	51983738	51983738	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactggggtgcaaacgacagCgcaggaaacatgattatcag	14	7	12	8	2	1	1	1	1	0	0	1	3	1	2	0	3	5	2	0	3	4	2	rs61746204	byFrequency	TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr19:51983738C>T	ENST00000396477.4	+	2	225	c.204C>T	c.(202-204)agC>agT	p.S68S	CEACAM18_ENST00000451626.1_Silent_p.S129S	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	68										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAAACGACAGCGCAGGAAACA	0.567													c|||	8	0.00159744	0.0045	0.0029	5008	,	,		18758	0		0	False		,,,				2504	0				p.S129S													.	CEACAM18	96		0			c.C387T							C		31,4045		0,31,2007	63	63	63		387	-4.8	0	19	dbSNP_129	63	0,8382		0,0,4191	no	coding-synonymous	CEACAM18	NM_001080405.1		0,31,6198	TT,TC,CC		0.0,0.7605,0.2488		129/399	51983738	31,12427	2038	4191	6229	SO:0001819	synonymous_variant	729767	exon3			CGACAGCGCAGGA			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.204C>T	19.37:g.51983738C>T			80	0	0		90	0.06	5	NM_001080405	0		0	C9JN24	Silent	SNP	ENST00000396477.4	37																																																																																						0.567	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000323114.2				T	51983738	C	T	51983738	2	4	77	1	0	0	0	0	0	0	0	1	3191	767	27	1		1	CEACAM18	19	51983738	Silent	SNP	C	TCGA-2G-AAM2-01A-11D-A435-10	1218923	51983738	7145245	32	5503											
C22orf25	128989	ucsc.edu;bcgsc.ca	37	chr22	20043537	20043537	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctatcgttttgacgccagGtgagcctgccctggcagcct	5	11	11	14	2	0	2	0	2	0	0	2	2	1	2	5	2	3	2	5	2	1	3			TCGA-2G-AAM2-01A-11D-A435-10	TCGA-2G-AAM2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	41feee46-1a42-47e4-9136-5346983071dc	7ec717b0-6a59-4bee-b5f7-b9b0ba2313bb	g.chr22:20043537G>T	ENST00000327374.4	+	6	629		c.e6+1		TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000420290.2_Splice_Site|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000434570.2_Splice_Site|TANGO2_ENST00000456048.1_Splice_Site|TANGO2_ENST00000447208.2_Splice_Site|TANGO2_ENST00000401833.1_Splice_Site	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)																		TTGACGCCAGGTGAGCCTGCC	0.542																																					.													.	TANGO2	4		0			c.451+1G>T												122	105	111					22																	20043537		2203	4300	6503	SO:0001630	splice_region_variant	0	exon6			CGCCAGGTGAGCC		CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 25"	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.451+1G>T	22.37:g.20043537G>T			35	0	0		36	0.11	4	NM_152906	0		0	A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Splice_Site	SNP	ENST00000327374.4	37	CCDS13772.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493863	0.26774	.	.	ENSG00000183597	ENST00000447208;ENST00000450664;ENST00000327374;ENST00000401833;ENST00000434168;ENST00000434570;ENST00000420290;ENST00000456048	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9432	0.58357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C22orf25	18423537	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	7.458000	0.80787	2.499000	0.84300	0.563000	0.77884	.			0.542	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318689.2		NM_152906	Intron	T	20043537	G	T	20043537	5	4	77	1	0	0	0	0	0	0	1	0	2141	1275	44	3	470	3	C22orf25	22	20043537	Splice_Site	SNP	G	TCGA-2G-AAM2-01A-11D-A435-10		20043537	31261029	33	5504											
C1orf194	127003	hgsc.bcm.edu	37	chr1	109650648	109650648	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaggtgtgttgggttcttAtatggcaatttctgcaaaag	10	14	12	5	0	2	0	0	0	2	0	2	0	2	0	0	3	1	5	0	3	6	5			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr1:109650648A>T	ENST00000369948.3	-	2	168	c.93T>A	c.(91-93)taT>taA	p.Y31*	C1orf194_ENST00000369949.4_Nonsense_Mutation_p.Y19*|C1orf194_ENST00000369945.3_Intron			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	31										large_intestine(2)|lung(2)|ovary(2)	6						TTGGGTTCTTATATGGCAATT	0.483																																					p.Y19X													.	.			0			c.T57A												187	173	177					1																	109650648		1568	3581	5149	SO:0001587	stop_gained	127003	exon2			GTTCTTATATGGC		CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.93T>A	1.37:g.109650648A>T	ENSP00000358964:p.Tyr31*		70	0	0		62	0.11	7	NM_001122961	2	0.5	1	Q5T5A3	Nonsense_Mutation	SNP	ENST00000369948.3	37		.	.	.	.	.	.	.	.	.	.	N	27.4	4.825348	0.90955	.	.	ENSG00000179902	ENST00000369949;ENST00000369948	.	.	.	4.01	0.646	0.17789	.	0.623994	0.14389	N	0.322658	.	.	.	.	.	.	0.36086	D	0.843092	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3433	6.944	0.24508	0.6723:0.0:0.3277:0.0	.	.	.	.	X	19;31	.	ENSP00000358964:Y31X	Y	-	3	2	C1orf194	109452171	0.097000	0.21791	0.189000	0.23252	0.941000	0.58515	0.252000	0.18278	0.009000	0.14813	-0.379000	0.06801	TAT			0.483	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000032416.2		NM_001122961		T	109650648	A	T	109650648	4	4	78	1	0	0	0	0	0	1	0	0	2027	456	16	5	432	5	C1orf194	1	109650648	Nonsense_Mutation	SNP	A	TCGA-2G-AAM3-01A-11D-A435-10		109650648	139599973	1	5505											
IKBKE	9641	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	206650044	206650044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgacatgtatgagcgggcGgtgcttcgaaagccccagca	9	6	13	13	4	0	1	0	1	0	0	1	3	0	1	3	2	4	3	3	2	2	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr1:206650044G>A	ENST00000367120.3	+	7	937	c.564G>A	c.(562-564)gcG>gcA	p.A188A	IKBKE_ENST00000537984.1_Silent_p.A103A	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATGAGCGGGCGGTGCTTCGAA	0.602																																					p.A188A													.	IKBKE	77		0			c.G564A												64	55	58					1																	206650044		2203	4300	6503	SO:0001819	synonymous_variant	0	exon7			GCGGGCGGTGCTT	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.564G>A	1.37:g.206650044G>A			96	0	0		95	0.05	5	NM_001193322	4	0	0	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																					0.602	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088484.1				A	206650044	G	A	206650044	2	1	78	1	0	0	0	0	0	0	0	1	7627	1103	39	1		1	IKBKE	1	206650044	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	96999396	206650044	42600577	2	5506											
DNAJC27	51277	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	25174379	25174379	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctattggtggtagggcgTttcccgccattttcacataa	7	14	10	10	2	1	0	1	0	0	0	2	0	2	0	2	3	1	3	2	3	3	7			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:25174379T>C	ENST00000264711.2	-	6	762	c.573A>G	c.(571-573)aaA>aaG	p.K191K	DNAJC27_ENST00000534855.1_Silent_p.K120K	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	191					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGGTAGGGCGTTTCCCGCCAT	0.398																																					p.K191K													.	.			0			c.A573G												90	88	89					2																	25174379		2203	4300	6503	SO:0001819	synonymous_variant	51277	exon6			AGGGCGTTTCCCG		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"Heat shock proteins / DNAJ (HSP40)"	30290	protein-coding gene	gene with protein product		613527	"rab and DnaJ domain containing"	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.573A>G	2.37:g.25174379T>C			95	0	0		81	0.19	15	NM_016544	3	0.33	1	Q5JV88|Q86Y24	Silent	SNP	ENST00000264711.2	37	CCDS1716.1																																																																																					0.398	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246855.3		NM_016544		C	25174379	T	C	25174379	2	2	78	1	0	0	0	0	0	0	0	1	4650	1722	60	4		4	DNAJC27	2	25174379	Silent	SNP	T	TCGA-2G-AAM3-01A-11D-A435-10		25174379	218024994	3	5507											
XDH	7498	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	31620583	31620583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctgtagcctgtgcagCggcacagatttcctgtgggc	5	11	15	10	1	1	1	0	0	1	1	2	1	2	1	2	3	3	3	2	3	1	2	rs148108999		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:31620583C>T	ENST00000379416.3	-	6	494	c.446G>A	c.(445-447)cGc>cAc	p.R149H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	149			R -> C (in XU1). {ECO:0000269|PubMed:11379872}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GCCTGTGCAGCGGCACAGATT	0.542													C|||	1	0.000199681	0	0	5008	,	,		19839	0		0.001	False		,,,				2504	0				p.R149H	Colon(66;682 1445 30109 40147)												.	.			0			c.G446A							C	HIS/ARG	0,4406		0,0,2203	103	108	106		446	6.1	1	2	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	XDH	NM_000379.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	149/1334	31620583	1,13005	2203	4300	6503	SO:0001583	missense	7498	exon6			GTGCAGCGGCACA	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.446G>A	2.37:g.31620583C>T	ENSP00000368727:p.Arg149His		100	0	0		88	0.14	12	NM_000379	1	1	1	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.454596	0.96223	0.0	1.16E-4	ENSG00000158125	ENST00000379416	D	0.83755	-1.76	6.07	6.07	0.98685	[2Fe-2S]-binding (3);Xanthine dehydrogenase, small subunit (1);	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	H	0.99712	4.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97328	0.9948	10	0.72032	D	0.01	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	149	P47989	XDH_HUMAN	H	149	ENSP00000368727:R149H	ENSP00000368727:R149H	R	-	2	0	XDH	31474087	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.175000	0.77632	2.884000	0.98904	0.655000	0.94253	CGC	0		0.542	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216840.1		NM_000379		T	31620583	C	T	31620583	3	4	78	1	0	0	0	0	1	0	0	0	17450	768	27	1	3679	1	XDH	2	31620583	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	6446204	31620583	211578790	4	5508											
ZNF638	27332	hgsc.bcm.edu;bcgsc.ca	37	chr2	71607352	71607355	+	Splice_Site	DEL	AACA	AACA	-																															aaaatatttttcctacgtagAacaaagaggtgaagaaaaag																										TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	AACA	AACA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:71607352_71607355delAACA	ENST00000409544.1	+	9	2896_2899	c.2266_2269delAACA	c.(2266-2271)aacaaa>aa	p.NK756fs	RNU6-105P_ENST00000363909.1_RNA|ZNF638_ENST00000264447.4_Splice_Site_p.NK756fs|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Splice_Site_p.NK756fs|ZNF638_ENST00000355812.3_Splice_Site_p.NK756fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	756					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCCTACGTAGAACAAAGAGGTGAA	0.275																																					p.756_756del													.	ZNF638	179		0			c.2266_2268del																																									SO:0001630	splice_region_variant	27332	exon9			ACGTAGAACAAAG	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2266-1AACA>-	2.37:g.71607352_71607355delAACA			298	0	0		266	0.25	66	NM_001252612	6	0	0	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	In_Frame_Del	DEL	ENST00000409544.1	37	CCDS1917.1																																																																																					0.275	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000327431.1		NM_014497	Frame_Shift_Del	-	71607355	AACA	-	71607352	8	5	78	1	0	1	0	1	0	0	1	0	18078	260	9	0	2296	0	ZNF638	2	71607352	Splice_Site	DEL	AACA	TCGA-2G-AAM3-01A-11D-A435-10	39986769	71607352	171592021	5	5509											
LRP2	4036	broad.mit.edu	37	chr2	170038126	170038126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagtctgcccagtagaggTacctgtcagggcaaacacaa	12	6	10	13	0	2	1	1	0	1	1	2	1	2	1	3	2	3	3	3	2	4	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:170038126T>C	ENST00000263816.3	-	52	10286	c.10001A>G	c.(10000-10002)tAc>tGc	p.Y3334C	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3334					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)"	CCAGTAGAGGTACCTGTCAGG	0.483																																					p.Y3334C													.	LRP2	751		0			c.A10001G												96	83	88					2																	170038126		2203	4300	6503	SO:0001583	missense	4036	exon52			TAGAGGTACCTGT		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.10001A>G	2.37:g.170038126T>C	ENSP00000263816:p.Tyr3334Cys		139	0	0		143	0.03	4	NM_004525	1	0	0	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943340	0.34283	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.96136	-3.92	5.66	4.46	0.54185	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.998870	0.08105	N	0.997127	D	0.97573	0.9205	M	0.83384	2.64	0.80722	D	1	D	0.65815	0.995	P	0.62813	0.907	D	0.93143	0.6543	10	0.72032	D	0.01	.	11.7826	0.52023	0.1319:0.0:0.0:0.8681	.	3334	P98164	LRP2_HUMAN	C	3334;29	ENSP00000263816:Y3334C	ENSP00000263816:Y3334C	Y	-	2	0	LRP2	169746372	0.692000	0.27719	0.417000	0.26559	0.074000	0.17049	3.101000	0.50283	0.913000	0.36797	0.533000	0.62120	TAC			0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255231.2		NM_004525		C	170038126	T	C	170038126	3	2	78	1	0	0	0	0	1	0	0	0	8972	1638	57	4	4078	4	LRP2	2	170038126	Missense_Mutation	SNP	T	TCGA-2G-AAM3-01A-11D-A435-10	98430774	170038126	73161247	6	5510											
PGAP1	80055	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	197791204	197791204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaccttacctgatactccGggtactcaaacatgtagctc	12	10	7	12	1	1	2	1	1	0	1	3	2	2	2	3	1	6	3	3	1	6	4			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:197791204G>C	ENST00000354764.4	-	1	251	c.137C>G	c.(136-138)cCg>cGg	p.P46R	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46R	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	46					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CTGATACTCCGGGTACTCAAA	0.537																																					p.P46R													.	.			0			c.C137G												193	213	206					2																	197791204		2203	4300	6503	SO:0001583	missense	80055	exon1			TACTCCGGGTACT		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.137C>G	2.37:g.197791204G>C	ENSP00000346809:p.Pro46Arg		206	0	0		203	0.18	37	NM_024989	2	0.5	1	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308646	0.60305	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.964;0.998	T	0.79115	-0.1936	9	0.87932	D	0	-6.2175	13.2964	0.60298	0.0:0.0:1.0:0.0	.	46;46	Q75T13-3;Q75T13	.;PGAP1_HUMAN	R	46	.	ENSP00000346809:P46R	P	-	2	0	PGAP1	197499449	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.894000	0.87336	2.158000	0.67659	0.313000	0.20887	CCG			0.537	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256103.5		NM_024989		C	197791204	G	C	197791204	3	2	78	1	0	0	0	0	1	0	0	0	11794	1116	39	5	2739	5	PGAP1	2	197791204	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	27753078	197791204	45408169	7	5511											
IDUA	3425	mdanderson.org	37	chr4	997352	997352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtcacgcggctccgcGccctgcccctgacccaaggg	5	4	12	20	4	1	1	1	1	0	0	2	1	2	1	6	3	1	1	6	3	1	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr4:997352G>T	ENST00000247933.4	+	12	1754	c.1666G>T	c.(1666-1668)Gcc>Tcc	p.A556S	IDUA_ENST00000453894.1_Missense_Mutation_p.A578S|IDUA_ENST00000514224.1_Missense_Mutation_p.A424S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	556					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCGGCTCCGCGCCCTGCCCCT	0.711																																					p.A556S													.	.			0			c.G1666T												40	43	42					4																	997352		2199	4299	6498	SO:0001583	missense	3425	exon12			CTCCGCGCCCTGC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1666G>T	4.37:g.997352G>T	ENSP00000247933:p.Ala556Ser		60	0	0		35	0.09	3	NM_000203	47	0	0	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	8.194	0.796632	0.16327	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	T;T;T	0.78364	-1.17;-1.17;-1.17	4.82	3.89	0.44902	.	0.376513	0.27236	N	0.020299	T	0.65133	0.2662	L	0.57536	1.79	0.09310	N	1	B;P	0.44877	0.076;0.845	B;B	0.34301	0.026;0.179	T	0.63633	-0.6593	10	0.44086	T	0.13	-5.2794	4.6652	0.12662	0.1138:0.0:0.6672:0.219	.	578;556	B3KWK6;P35475	.;IDUA_HUMAN	S	556;578;424	ENSP00000247933:A556S;ENSP00000396458:A578S;ENSP00000425081:A424S	ENSP00000247933:A556S	A	+	1	0	IDUA	987352	0.001000	0.12720	0.009000	0.14445	0.011000	0.07611	0.950000	0.29122	2.515000	0.84797	0.655000	0.94253	GCC			0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000201812.1		NM_000203		T	997352	G	T	997352	3	4	78	1	0	0	0	0	1	0	0	0	7519	1087	38	1	1712	1	IDUA	4	997352	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		997352	190156924	8	5512											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830066	23830066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgggacttctttttGgaggtgcatttgtctctgct	3	19	13	6	0	2	0	0	0	2	0	3	2	2	2	0	3	2	2	0	3	0	4			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr4:23830066G>T	ENST00000264867.2	-	5	833	c.714C>A	c.(712-714)tcC>tcA	p.S238S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	238					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)				ACTTCTTTTTGGAGGTGCATT	0.507																																					p.S238S	Esophageal Squamous(29;694 744 13796 34866 44181)												PPARGC1A,NS,malignant_melanoma,-1,2	PPARGC1A	129	2	0			c.C714A												432	385	401					4																	23830066		2203	4300	6503	SO:0001819	synonymous_variant	10891	exon5			CTTTTTGGAGGTG	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.714C>A	4.37:g.23830066G>T			239	0	0		177	0.02	4	NM_013261	0		0	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																					0.507	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214976.1		NM_013261		T	23830066	G	T	23830066	2	4	78	1	0	0	0	0	0	0	0	1	12317	1335	47	3		3	PPARGC1A	4	23830066	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	22832714	23830066	167324210	9	5513											
GRID2	2895	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr4	94006231	94006232	+	Frame_Shift_Del	DEL	CG	CG	-																															tccctccagtctttggcagaCgccatgcatatcccccacct																										TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	CG	CG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr4:94006231_94006232delCG	ENST00000282020.4	+	3	588_589	c.330_331delCG	c.(328-333)gacgccfs	p.A111fs	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	111					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)		CTTTGGCAGACGCCATGCATAT	0.55																																					p.110_110del													.	GRID2	233		0			c.329_330del																																									SO:0001589	frameshift_variant	2895	exon3			GGCAGACGCCATG	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.330_331delCG	4.37:g.94006231_94006232delCG	ENSP00000282020:p.Ala111fs		100	0	0		63	0.37	23	NM_001510	0		0	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Frame_Shift_Del	DEL	ENST00000282020.4	37	CCDS3637.1																																																																																					0.55	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253588.2				-	94006232	CG	-	94006231	7	5	78	1	0	1	0	1	0	0	0	0	6787	535	19	0	340	0	GRID2	4	94006231	Frame_Shift_Del	DEL	CG	TCGA-2G-AAM3-01A-11D-A435-10	70176165	94006231	97148045	10	5514											
MIER3	166968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	56219302	56219302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtaactcttctgttacaaCaggcacatgattaacttgtc	12	13	7	9	0	2	1	0	1	2	0	3	2	2	1	0	1	4	3	0	1	4	5			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr5:56219302C>T	ENST00000381199.3	-	13	1316	c.1306G>A	c.(1306-1308)Gtt>Att	p.V436I	SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Missense_Mutation_p.V373I|MIER3_ENST00000381213.3_Missense_Mutation_p.V435I|MIER3_ENST00000381226.3_Missense_Mutation_p.V441I			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCTGTTACAACAGGCACATGA	0.453																																					p.V435I													.	.			0			c.G1303A												57	57	57					5																	56219302		2203	4300	6503	SO:0001583	missense	166968	exon13			TTACAACAGGCAC	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1306G>A	5.37:g.56219302C>T	ENSP00000370596:p.Val436Ile		116	0	0		96	0.15	14	NM_152622	6	0.17	1	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	C	14.07	2.425432	0.43020	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.79	5.79	0.91817	.	0.429971	0.27181	N	0.020558	T	0.48040	0.1478	L	0.44542	1.39	0.41648	D	0.989112	B;B;B	0.33238	0.282;0.403;0.403	B;B;B	0.32762	0.073;0.152;0.152	T	0.36744	-0.9735	10	0.19590	T	0.45	-1.8917	20.0442	0.97604	0.0:1.0:0.0:0.0	.	436;441;435	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	I	441;435;436;373	ENSP00000370624:V441I;ENSP00000370611:V435I;ENSP00000370596:V436I;ENSP00000386584:V373I	ENSP00000370596:V436I	V	-	1	0	MIER3	56255059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.285000	0.65633	2.747000	0.94245	0.591000	0.81541	GTT			0.453	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000132523.2		NM_152622		T	56219302	C	T	56219302	3	4	78	1	0	0	0	0	1	0	0	0	9598	478	17	3	350	3	MIER3	5	56219302	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10		56219302	124695958	11	5515											
POLK	51426	broad.mit.edu	37	chr5	74892821	74892821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaataccgccagccttactTatgtgaagtgaaaacaggcc	14	8	9	10	1	0	3	0	2	0	1	0	3	0	3	4	1	4	0	4	1	7	3			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr5:74892821T>C	ENST00000241436.4	+	13	2475	c.2303T>C	c.(2302-2304)tTa>tCa	p.L768S	POLK_ENST00000352007.5_Missense_Mutation_p.L570S|POLK_ENST00000380481.3_Missense_Mutation_p.L678S|POLK_ENST00000508526.1_Missense_Mutation_p.L570S|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	768					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CAGCCTTACTTATGTGAAGTG	0.378								DNA polymerases (catalytic subunits)																													p.L768S													.	POLK	123		0			c.T2303C												91	97	95					5																	74892821		2201	4299	6500	SO:0001583	missense	51426	exon13			CTTACTTATGTGA	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2303T>C	5.37:g.74892821T>C	ENSP00000241436:p.Leu768Ser		118	0	0		73	0.05	4	NM_016218	6	0	0	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	T	7.042	0.562735	0.13498	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.55234	1.34;0.53;0.53;1.34	4.54	-1.01	0.10169	.	2.910340	0.00907	N	0.002439	T	0.44350	0.1289	L	0.38531	1.155	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.10450	0.005;0.003	T	0.23797	-1.0178	10	0.18710	T	0.47	0.3248	11.3741	0.49717	0.0:0.5204:0.0:0.4796	.	570;768	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	S	768;570;570;678	ENSP00000241436:L768S;ENSP00000342256:L570S;ENSP00000426853:L570S;ENSP00000369848:L678S	ENSP00000241436:L768S	L	+	2	0	POLK	74928577	0.000000	0.05858	0.000000	0.03702	0.208000	0.24298	-0.584000	0.05800	-0.362000	0.08113	-0.263000	0.10527	TTA			0.378	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219945.3		NM_016218		C	74892821	T	C	74892821	3	2	78	1	0	0	0	0	1	0	0	0	12221	1764	61	4	2349	4	POLK	5	74892821	Missense_Mutation	SNP	T	TCGA-2G-AAM3-01A-11D-A435-10	18673519	74892821	106022439	12	5516											
RPS14	6208	mdanderson.org	37	chr5	149823857	149823857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaatcttgttcacagacGgcgaccacggcgacccccct	9	6	11	15	4	2	1	1	0	1	1	2	5	2	2	4	3	0	1	4	3	1	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr5:149823857G>T	ENST00000401695.3	-	5	494	c.448C>A	c.(448-450)Cgt>Agt	p.R150S	RPS14_ENST00000312037.5_Missense_Mutation_p.R150S|RPS14_ENST00000407193.1_Missense_Mutation_p.R150S			P62263	RS14_HUMAN	ribosomal protein S14	150					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCACAGACGGCGACCACGG	0.512																																					p.R150S													.	.			0			c.C448A												71	83	79					5																	149823857		2203	4300	6503	SO:0001583	missense	6208	exon5			ACAGACGGCGACC		CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"S ribosomal proteins"	10387	protein-coding gene	gene with protein product	"emetine resistance", "40S ribosomal protein S14"	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.448C>A	5.37:g.149823857G>T	ENSP00000385958:p.Arg150Ser		36	0	0		40	0.08	3	NM_001025070	2057	0	3	B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	ENST00000401695.3	37	CCDS4307.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018357	0.75275	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	5.49	5.49	0.81192	.	0.091906	0.85682	D	0.000000	T	0.79464	0.4450	M	0.93978	3.48	0.80722	D	1	P	0.39748	0.686	B	0.41299	0.353	D	0.84699	0.0727	9	0.87932	D	0	.	19.7245	0.96157	0.0:0.0:1.0:0.0	.	150	P62263	RS14_HUMAN	S	150	.	ENSP00000311028:R150S	R	-	1	0	RPS14	149804050	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.251000	0.95483	2.735000	0.93741	0.561000	0.74099	CGT			0.512	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252373.1		NM_001025071		T	149823857	G	T	149823857	3	4	78	1	0	0	0	0	1	0	0	0	13647	1116	39	1	11	1	RPS14	5	149823857	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	74931036	149823857	31091403	13	5517											
FLT4	2324	mdanderson.org	37	chr5	180038336	180038336	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggacagctgacctggcGgccaggctgtggcgctgcag	6	6	17	12	2	0	1	0	1	0	0	0	2	0	2	2	5	3	5	2	5	0	0	rs140710164	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr5:180038336G>T	ENST00000261937.6	-	27	3759	c.3681C>A	c.(3679-3681)gcC>gcA	p.A1227A	FLT4_ENST00000393347.3_Silent_p.A1227A|FLT4_ENST00000502649.1_Silent_p.A1227A	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1227					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)	CTGACCTGGCGGCCAGGCTGT	0.607																																					p.A1227A	Colon(97;1075 1466 27033 27547 35871)												FLT4_ENST00000261937,NS,carcinoma,0,4	FLT4_ENST00000261937	0	4	0			c.C3681A												75	79	78					5																	180038336		2203	4300	6503	SO:0001819	synonymous_variant	2324	exon27			CCTGGCGGCCAGG	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.3681C>A	5.37:g.180038336G>T			58	0	0		43	0.07	3	NM_182925	27	0	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	CCDS4457.1																																																																																					0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253527.4				T	180038336	G	T	180038336	2	4	78	1	0	0	0	0	0	0	0	1	5957	1103	39	1		1	FLT4	5	180038336	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	30214479	180038336	876924	14	5518											
JARID2	3720	broad.mit.edu;mdanderson.org	37	chr6	15501152	15501152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccagggggctgtgagctcGacctggcctgctttttccgg	3	11	14	13	2	0	1	0	1	0	0	3	2	2	1	4	4	2	3	4	4	0	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr6:15501152G>A	ENST00000341776.2	+	8	2204	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N	JARID2_ENST00000397311.3_Missense_Mutation_p.D482N|JARID2_ENST00000541660.1_Missense_Mutation_p.D616N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	654	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)				CTGTGAGCTCGACCTGGCCTG	0.502																																					p.D654N													.	JARID2	135		0			c.G1960A												105	112	110					6																	15501152		2203	4300	6503	SO:0001583	missense	3720	exon8			GAGCTCGACCTGG	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.1960G>A	6.37:g.15501152G>A	ENSP00000341280:p.Asp654Asn		57	0	0		74	0.05	4	NM_004973	16	0.06	1	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642988	0.87859	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.69435	-0.4;-0.4;-0.4	5.14	4.27	0.50696	ARID/BRIGHT DNA-binding domain (5);	0.046783	0.85682	D	0.000000	T	0.76227	0.3958	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80708	-0.1262	10	0.72032	D	0.01	-20.5158	15.0451	0.71822	0.0:0.0:0.8568:0.1432	.	616;654	F5H590;Q92833	.;JARD2_HUMAN	N	654;482;616	ENSP00000341280:D654N;ENSP00000380478:D482N;ENSP00000444623:D616N	ENSP00000341280:D654N	D	+	1	0	JARID2	15609131	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	1.144000	0.42321	0.555000	0.69702	GAC			0.502	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039926.1		NM_004973		A	15501152	G	A	15501152	3	1	78	1	0	0	0	0	1	0	0	0	7960	1058	37	1	1990	1	JARID2	6	15501152	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		15501152	155613915	15	5519											
BEND3	57673	mdanderson.org	37	chr6	107390566	107390566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggcggatgagcttgatgCgggaggggtccagctgcttc	6	9	18	8	2	0	2	0	2	0	0	2	4	1	4	1	5	4	3	1	5	0	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr6:107390566C>T	ENST00000369042.1	-	4	2019	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	BEND3_ENST00000429433.2_Missense_Mutation_p.R610H			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	610	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGCTTGATGCGGGAGGGGTC	0.627																																					p.R610H													.	.			0			c.G1829A												23	24	23					6																	107390566		2203	4300	6503	SO:0001583	missense	57673	exon5			TTGATGCGGGAGG	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1829G>A	6.37:g.107390566C>T	ENSP00000358038:p.Arg610His		58	0	0		49	0.06	3	NM_001080450	4	0	0	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097588	0.76870	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.44083	0.93;0.93	4.9	4.9	0.64082	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	N	0.20986	0.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.52704	-0.8540	10	0.87932	D	0	-13.5458	18.2604	0.90033	0.0:1.0:0.0:0.0	.	610	Q5T5X7	BEND3_HUMAN	H	610	ENSP00000358038:R610H;ENSP00000411268:R610H	ENSP00000358038:R610H	R	-	2	0	BEND3	107497259	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.273000	0.78527	2.540000	0.85666	0.555000	0.69702	CGC			0.627	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041686.1		NM_020913		T	107390566	C	T	107390566	3	4	78	1	0	0	0	0	1	0	0	0	1399	768	27	1	661	1	BEND3	6	107390566	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	91889414	107390566	63724501	16	5520											
FAM150A	389658	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	53477732	53477732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctcccctgcgcccccgggGcctcccgtgggctccgtgcg	0	6	14	21	6	0	0	0	0	0	0	3	0	3	0	7	3	2	2	7	3	0	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr8:53477732G>A	ENST00000358543.4	-	1	335	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	FAM150A_ENST00000523939.1_Missense_Mutation_p.P29S	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	29						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				CGCCCCCGGGGCCTCCCGTGG	0.741																																					p.P29S													.	FAM150A	6		0			c.C85T												3	3	3					8																	53477732		1560	3095	4655	SO:0001583	missense	389658	exon1			CCCGGGGCCTCCC		CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.85C>T	8.37:g.53477732G>A	ENSP00000351345:p.Pro29Ser		49	0	0		66	0.12	8	NM_207413	2	0	0	B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.862011	0.32884	.	.	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	2.8	1.89	0.25635	.	0.562468	0.14332	N	0.326319	T	0.20292	0.0488	N	0.24115	0.695	0.09310	N	1	B;B	0.30709	0.291;0.291	B;B	0.31191	0.125;0.072	T	0.18241	-1.0343	9	0.19590	T	0.45	.	6.1156	0.20124	0.1481:0.0:0.8519:0.0	.	29;29	B7ZMG9;Q6UXT8	.;F150A_HUMAN	S	29	.	ENSP00000351345:P29S	P	-	1	0	FAM150A	53640285	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	0.303000	0.19210	0.719000	0.32188	0.467000	0.42956	CCC			0.741	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000377959.1		NM_207413		A	53477732	G	A	53477732	3	1	78	1	0	0	0	0	1	0	0	0	5466	1203	42	2	320	2	FAM150A	8	53477732	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		53477732	92886290	17	5521											
VPS13B	157680	broad.mit.edu	37	chr8	100866473	100866473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcactatgccgctggggcccTttttagagcaggtaagaaca	10	9	12	10	1	0	2	0	0	0	2	0	2	0	2	2	3	3	4	2	3	4	5			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr8:100866473T>C	ENST00000358544.2	+	56	11042	c.10931T>C	c.(10930-10932)cTt>cCt	p.L3644P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L3619P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3644					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)			GCTGGGGCCCTTTTTAGAGCA	0.542																																					p.L3644P	Colon(161;2205 2542 7338 31318)												.	VPS13B	811		0			c.T10931C												41	37	38					8																	100866473		2203	4300	6503	SO:0001583	missense	157680	exon56			GGGCCCTTTTTAG	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.10931T>C	8.37:g.100866473T>C	ENSP00000351346:p.Leu3644Pro		84	0	0		109	0.04	4	NM_017890	13	0	0	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.058890	0.76074	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.74209	-0.82;-0.82	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.88144	0.2846	10	0.87932	D	0	.	15.618	0.76784	0.0:0.0:0.0:1.0	.	3619;3644	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	P	3619;3644	ENSP00000349685:L3619P;ENSP00000351346:L3644P	ENSP00000349685:L3619P	L	+	2	0	VPS13B	100935649	1.000000	0.71417	0.978000	0.43139	0.916000	0.54674	7.474000	0.81024	2.073000	0.62155	0.528000	0.53228	CTT			0.542	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000277138.1		NM_184042		C	100866473	T	C	100866473	3	2	78	1	0	0	0	0	1	0	0	0	17214	1609	56	4	11343	4	VPS13B	8	100866473	Missense_Mutation	SNP	T	TCGA-2G-AAM3-01A-11D-A435-10	47388741	100866473	45497549	18	5522											
TATDN1	83940	broad.mit.edu	37	chr8	125520718	125520718	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactattttatacttaccacTccccctacacaccgatctct	10	13	2	16	1	1	0	0	0	1	0	3	2	2	0	4	0	3	0	4	0	5	6			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr8:125520718T>C	ENST00000276692.6	-	8	550	c.513A>G	c.(511-513)ggA>ggG	p.G171G	TATDN1_ENST00000519548.1_Silent_p.G124G|TATDN1_ENST00000605953.1_Silent_p.G171G|TATDN1_ENST00000517678.1_Silent_p.G117G|TATDN1_ENST00000521546.1_5'UTR	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	171					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)			TACTTACCACTCCCCCTACAC	0.308																																					p.G171G													.	TATDN1	29		0			c.A513G												80	80	80					8																	125520718		2201	4296	6497	SO:0001819	synonymous_variant	83940	exon8			TACCACTCCCCCT	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	ENST00000276692.6:c.513A>G	8.37:g.125520718T>C			290	0.0034482759	1		365	0.02	8	NM_032026	60	0	0	B2R5J0|Q8TD02|Q9BY40	Silent	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	T	8.562	0.878025	0.17395	.	.	ENSG00000147687	ENST00000519232	.	.	.	5.51	1.71	0.24356	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23084	-1.0198	4	.	.	.	-11.38	1.2405	0.01962	0.2387:0.1334:0.124:0.5038	.	.	.	.	G	201	.	.	S	-	1	0	TATDN1	125589899	0.996000	0.38824	0.998000	0.56505	0.833000	0.47200	0.265000	0.18515	0.108000	0.17862	-0.341000	0.08007	AGT			0.308	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381655.1		NM_032026		C	125520718	T	C	125520718	2	2	78	1	0	0	0	0	0	0	0	1	15614	1538	54	4		4	TATDN1	8	125520718	Silent	SNP	T	TCGA-2G-AAM3-01A-11D-A435-10	24654245	125520718	20843304	19	5523											
GSDMD	79792	mdanderson.org	37	chr8	144644686	144644686	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctgttggggccgctcGagctggtgagagggttgggt	5	9	19	8	2	0	2	0	1	0	2	1	4	0	2	2	5	1	4	2	5	0	2	rs144173624	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr8:144644686G>T	ENST00000526406.1	+	13	2090	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	GSDMD_ENST00000262580.4_Nonsense_Mutation_p.E403*|GSDMD_ENST00000533063.1_Nonsense_Mutation_p.E451*	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	403				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGCCGCTCGAGCTGGTGAG	0.637																																					p.E403X													.	.			0			c.G1207T												25	30	28					8																	144644686		2194	4298	6492	SO:0001587	stop_gained	79792	exon13			CCGCTCGAGCTGG	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1207G>T	8.37:g.144644686G>T	ENSP00000433209:p.Glu403*		24	0	0		39	0.08	3	NM_001166237	237	0	0	D3DWJ9|Q96Q98	Nonsense_Mutation	SNP	ENST00000526406.1	37	CCDS34956.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.585043|3.585043	0.66105|0.66105	.|.	.|.	ENSG00000104518|ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580|ENST00000525208	.|.	.|.	.|.	4.3|4.3	-8.6|-8.6	0.00889|0.00889	.|.	1.544540|.	0.03331|.	N|.	0.193390|.	.|T	.|0.36717	.|0.0977	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42565	.|-0.9444	.|4	0.15499|.	T|.	0.54|.	-1.83|-1.83	3.7826|3.7826	0.08686|0.08686	0.395:0.3805:0.1285:0.0959|0.395:0.3805:0.1285:0.0959	.|.	.|.	.|.	.|.	X|L	403;451;403|98	.|.	ENSP00000262580:E403X|.	E|R	+|+	1|2	0|0	GSDMD|GSDMD	144715829|144715829	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.096000|0.096000	0.18686|0.18686	-0.827000|-0.827000	0.04424|0.04424	-2.612000|-2.612000	0.00445|0.00445	-0.163000|-0.163000	0.13421|0.13421	GAG|CGA			0.637	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382046.3		NM_024736		T	144644686	G	T	144644686	4	4	78	1	0	0	0	0	0	1	0	0	6834	1059	37	1	1241	1	GSDMD	8	144644686	Nonsense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	19123968	144644686	1719336	20	5524											
PRUNE2	158471	ucsc.edu;bcgsc.ca	37	chr9	79253165	79253165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtctggcagaaaacaggcgGcaaacacaatgatggcattt	14	8	11	8	1	1	2	0	1	1	1	1	2	1	2	0	4	2	3	0	4	4	1			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:79253165G>T	ENST00000376718.3	-	13	8891	c.8768C>A	c.(8767-8769)gCc>gAc	p.A2923D	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A2565D|PRUNE2_ENST00000223609.6_Missense_Mutation_p.A188D|PRUNE2_ENST00000443509.2_Missense_Mutation_p.A172D|PRUNE2_ENST00000466266.2_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2923	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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						AAAACAGGCGGCAAACACAAT	0.423																																					p.A2923D													.	PRUNE2	331		0			c.C8768A												72	67	68					9																	79253165		1568	3582	5150	SO:0001583	missense	158471	exon13			CAGGCGGCAAACA	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.8768C>A	9.37:g.79253165G>T	ENSP00000365908:p.Ala2923Asp		50	0	0		29	0.14	4	NM_015225	12	0	0	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.982185|4.982185	0.93044|0.93044	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.60299|.	0.2;0.2;0.2;0.2;0.2;0.2|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Cellular retinaldehyde-binding/triple function, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82342|.	0.5016|.	M|M	0.82923|0.82923	2.615|2.615	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.996;0.855;0.999;1.0|.	D;P;D;D|.	0.97110|.	0.969;0.661;0.981;1.0|.	T|.	0.83259|.	-0.0049|.	10|.	0.72032|.	D|.	0.01|.	-15.8655|-15.8655	19.3181|19.3181	0.94224|0.94224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	188;187;172;2923|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3|.	.;.;.;PRUN2_HUMAN|.	D|X	188;2923;2565;144;172;96;188;2926|2247	ENSP00000365907:A188D;ENSP00000365908:A2923D;ENSP00000397425:A2565D;ENSP00000393843:A172D;ENSP00000393657:A96D;ENSP00000223609:A188D|.	ENSP00000223609:A188D|.	A|C	-|-	2|3	0|2	PRUNE2|PRUNE2	78442985|78442985	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.584000|2.584000	0.87258|0.87258	0.555000|0.555000	0.69702|0.69702	GCC|TGC			0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052730.2		NM_138818		T	79253165	G	T	79253165	3	4	78	1	0	0	0	0	1	0	0	0	12661	1203	42	2	526	2	PRUNE2	9	79253165	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		79253165	61960266	21	5525											
GKAP1	80318	mdanderson.org	37	chr9	86403589	86403589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcaaacatttcagatGtcagctacaaaaaaaaagtt	17	11	5	8	0	3	1	3	0	0	1	3	1	3	1	0	0	4	3	0	0	6	4			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:86403589G>T	ENST00000376371.2	-	5	765	c.365C>A	c.(364-366)aCa>aAa	p.T122K	GKAP1_ENST00000376365.3_Missense_Mutation_p.T122K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	122					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)		p.T122K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CATTTCAGATGTCAGCTACAA	0.299																																					p.T122K													GKAP1,rectum,carcinoma,0,1	GKAP1	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C365A												119	120	120					9																	86403589		2201	4292	6493	SO:0001583	missense	80318	exon5			TCAGATGTCAGCT	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"cGMP-dependent protein kinase anchoring protein 42kDa"	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.365C>A	9.37:g.86403589G>T	ENSP00000365550:p.Thr122Lys		48	0	0		45	0.07	3	NM_001135953	12	0	0	Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495548	0.85069	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.76838	2.35	0.80722	D	1	P;D	0.58970	0.775;0.984	B;P	0.56700	0.436;0.804	T	0.79820	-0.1642	9	0.72032	D	0.01	-14.7711	19.1566	0.93514	0.0:0.0:1.0:0.0	.	122;122	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	K	122	.	ENSP00000365544:T122K	T	-	2	0	GKAP1	85593409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.725000	0.74752	2.700000	0.92200	0.585000	0.79938	ACA			0.299	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052839.2		NM_025211		T	86403589	G	T	86403589	3	4	78	1	0	0	0	0	1	0	0	0	6437	1377	48	3	771	3	GKAP1	9	86403589	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	7150424	86403589	54809842	22	5526											
TNC	3371	bcgsc.ca;mdanderson.org	37	chr9	117846507	117846507	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtggccaccctggcgctGacaggaatgctcttcttgtt	6	11	11	13	2	2	1	0	1	2	0	2	2	2	2	2	3	1	3	2	3	1	3			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:117846507G>T	ENST00000350763.4	-	4	2523	c.2112C>A	c.(2110-2112)gtC>gtA	p.V704V	TNC_ENST00000340094.3_Silent_p.V704V|TNC_ENST00000537320.1_Silent_p.V704V|TNC_ENST00000423613.2_Silent_p.V704V|TNC_ENST00000346706.3_Silent_p.V704V|TNC_ENST00000542877.1_Silent_p.V704V|TNC_ENST00000341037.4_Silent_p.V704V|TNC_ENST00000535648.1_Silent_p.V704V|TNC_ENST00000345230.3_Silent_p.V704V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	704	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCCTGGCGCTGACAGGAATGC	0.577																																					p.V704V													.	TNC	282		0			c.C2112A												86	80	82					9																	117846507		2203	4300	6503	SO:0001819	synonymous_variant	3371	exon4			GGCGCTGACAGGA		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2112C>A	9.37:g.117846507G>T			70	0	0		55	0.09	5	NM_002160	14	0	0	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																					0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055418.2		NM_002160		T	117846507	G	T	117846507	2	4	78	1	0	0	0	0	0	0	0	1	16293	1277	45	3		3	TNC	9	117846507	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	31442918	117846507	23366924	23	5527											
IER5L	389792	mdanderson.org	37	chr9	131940157	131940157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgttgctgctgctgctGgcgccggtagagctcggcgt	2	11	16	12	4	0	1	0	0	0	1	1	1	0	1	1	3	6	8	1	3	1	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:131940157G>T	ENST00000372491.2	-	1	383	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	59	Gln-rich.												Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		tgctgctgctgGCGCCGGTAG	0.706																																					p.Q59K													.	.			0			c.C175A												7	11	10					9																	131940157		2079	4143	6222	SO:0001583	missense	389792	exon1			GCTGCTGGCGCCG	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.175C>A	9.37:g.131940157G>T	ENSP00000361569:p.Gln59Lys		39	0	0		24	0.13	3	NM_203434	64	0	0	Q6P3E2	Missense_Mutation	SNP	ENST00000372491.2	37	CCDS43888.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917618	0.73098	.	.	ENSG00000188483	ENST00000372491	T	0.68181	-0.31	3.77	3.77	0.43336	.	0.182505	0.38326	U	0.001735	T	0.70518	0.3233	L	0.32530	0.975	0.37842	D	0.929073	D	0.65815	0.995	D	0.64410	0.925	T	0.75808	-0.3187	10	0.56958	D	0.05	.	13.1694	0.59589	0.0:0.0:1.0:0.0	.	59	Q5T953	IER5L_HUMAN	K	59	ENSP00000361569:Q59K	ENSP00000361569:Q59K	Q	-	1	0	IER5L	130979978	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.399000	0.90197	1.949000	0.56562	0.298000	0.19748	CAG			0.706	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054556.2				T	131940157	G	T	131940157	3	4	78	1	0	0	0	0	1	0	0	0	7524	1357	47	3	1043	3	IER5L	9	131940157	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	14093650	131940157	9273274	24	5528											
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	135171355	135171355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggaaggtgcacacacgaGgacacggttttgtttgattt	10	13	12	6	2	0	1	0	1	0	0	0	4	0	3	0	4	1	3	0	4	1	5			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:135171355G>C	ENST00000224140.5	-	15	6192	c.6010C>G	c.(6010-6012)Ctc>Gtc	p.L2004V	SETX_ENST00000393220.1_Missense_Mutation_p.L2004V|SETX_ENST00000372169.2_Missense_Mutation_p.L2004V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2004					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)		GCACACACGAGGACACGGTTT	0.373																																					p.L2004V													.	.			0			c.C6010G												200	177	185					9																	135171355		2203	4300	6503	SO:0001583	missense	23064	exon15			ACACGAGGACACG	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.6010C>G	9.37:g.135171355G>C	ENSP00000224140:p.Leu2004Val		118	0	0		84	0.51	43	NM_015046	14	0.5	7	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765009	0.69878	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000002	D	0.94801	0.8321	M	0.86178	2.8	0.44194	D	0.997012	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.996	D	0.95492	0.8570	10	0.87932	D	0	.	16.4644	0.84074	0.0:0.0:1.0:0.0	.	2004;2004;2004	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	V	2004;246;2004;2004	ENSP00000224140:L2004V;ENSP00000409143:L246V;ENSP00000361242:L2004V;ENSP00000376913:L2004V	ENSP00000224140:L2004V	L	-	1	0	SETX	134161176	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	3.994000	0.56994	2.523000	0.85059	0.467000	0.42956	CTC			0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054774.3		NM_015046		C	135171355	G	C	135171355	3	2	78	1	0	0	0	0	1	0	0	0	14164	1000	35	5	2071	5	SETX	9	135171355	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	3231198	135171355	6042076	25	5529											
C9orf172	389813	mdanderson.org	37	chr9	139741764	139741764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcgcgctcgactgggtGgccagcgccaacctgctgga	5	5	15	16	6	0	0	0	0	0	0	1	2	0	1	4	3	3	2	4	3	1	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:139741764G>A	ENST00000436881.1	+	1	2898	c.2898G>A	c.(2896-2898)gtG>gtA	p.V966V	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	966										endometrium(2)|large_intestine(1)|lung(6)	9						TCGACTGGGTGGCCAGCGCCA	0.726																																					p.V966V													.	.			0			c.G2898A												3	4	4					9																	139741764		1625	3625	5250	SO:0001819	synonymous_variant	389813	exon1			CTGGGTGGCCAGC		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.2898G>A	9.37:g.139741764G>A			29	0	0		24	0.13	3	NM_001080482	1	0	0		Silent	SNP	ENST00000436881.1	37	CCDS48059.1																																																																																					0.726	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001080482		A	139741764	G	A	139741764	2	1	78	1	0	0	0	0	0	0	0	1	2473	1335	47	3		3	C9orf172	9	139741764	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	4570409	139741764	1471667	26	5530											
JMJD1C	221037	mdanderson.org	37	chr10	64946050	64946050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatctttgcagttcaggaGatcagcttggtggtctccaa	8	13	11	9	0	4	1	2	0	2	1	5	2	4	1	1	3	2	4	1	3	2	4			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr10:64946050G>T	ENST00000399262.2	-	19	6882	c.6664C>A	c.(6664-6666)Ctc>Atc	p.L2222I	JMJD1C_ENST00000542921.1_Missense_Mutation_p.L2040I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L1985I|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2222					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)					CAGTTCAGGAGATCAGCTTGG	0.368																																					p.L2222I													.	.			0			c.C6664A												114	107	109					10																	64946050		1868	4096	5964	SO:0001583	missense	221037	exon19			TCAGGAGATCAGC	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.6664C>A	10.37:g.64946050G>T	ENSP00000382204:p.Leu2222Ile		72	0	0		41	0.07	3	NM_032776	36	0	0	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930342	0.52866	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.70399	-0.48;-0.48;-0.48	5.66	3.82	0.43975	.	0.061508	0.64402	D	0.000005	T	0.56232	0.1971	L	0.37850	1.14	0.80722	D	1	B;B;B	0.30542	0.284;0.284;0.002	B;B;B	0.30251	0.085;0.113;0.013	T	0.48068	-0.9067	9	.	.	.	-3.9625	7.9859	0.30212	0.1406:0.0:0.7288:0.1306	.	2040;2222;2040	B7ZLC8;Q15652;A0T124	.;JHD2C_HUMAN;.	I	2222;1985;2040	ENSP00000382204:L2222I;ENSP00000384990:L1985I;ENSP00000444682:L2040I	.	L	-	1	0	JMJD1C	64616056	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	6.003000	0.70701	0.870000	0.35726	0.650000	0.86243	CTC			0.368	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048249.2		NM_004241		T	64946050	G	T	64946050	3	4	78	1	0	0	0	0	1	0	0	0	7965	942	33	3	990	3	JMJD1C	10	64946050	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		64946050	70588697	27	5531											
RRP12	23223	mdanderson.org	37	chr10	99126540	99126540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctcctcctcctcctcCtcttcttcctcctccacggc	1	13	4	23	1	2	0	0	0	2	0	11	0	11	0	9	2	0	1	9	2	0	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr10:99126540C>T	ENST00000370992.4	-	27	3285	c.3174G>A	c.(3172-3174)gaG>gaA	p.E1058E	RRP12_ENST00000315563.6_Silent_p.E958E|RRP12_ENST00000536831.1_Silent_p.E776E|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.E997E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1058	Glu-rich.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		cctcctcctcctcttcttcct	0.662																																					p.E1058E													.	.			0			c.G3174A												94	108	103					10																	99126540		2203	4300	6503	SO:0001819	synonymous_variant	23223	exon27			CTCCTCCTCTTCT		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3174G>A	10.37:g.99126540C>T			63	0	0		64	0.06	4	NM_015179	13	0	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																					0.662	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049699.4		NM_015179		T	99126540	C	T	99126540	2	4	78	1	0	0	0	0	0	0	0	1	13709	680	24	3		3	RRP12	10	99126540	Silent	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	34180490	99126540	36408207	28	5532											
NRAP	4892	mdanderson.org	37	chr10	115385817	115385817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggactcaccccgctctgtaGctcctggctcttcttggcgt	4	12	10	15	2	4	0	1	0	3	0	5	1	5	1	3	3	1	4	3	3	1	3			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr10:115385817G>T	ENST00000359988.3	-	21	2477	c.2233C>A	c.(2233-2235)Cta>Ata	p.L745I	NRAP_ENST00000369358.4_Missense_Mutation_p.L753I|NRAP_ENST00000360478.3_Missense_Mutation_p.L710I|NRAP_ENST00000369360.3_Missense_Mutation_p.L718I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCGCTCTGTAGCTCCTGGCTC	0.612																																					p.L745I													.	.			0			c.C2233A												102	74	83					10																	115385817		2203	4300	6503	SO:0001583	missense	4892	exon21			TCTGTAGCTCCTG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2233C>A	10.37:g.115385817G>T	ENSP00000353078:p.Leu745Ile		69	0	0		43	0.07	3	NM_001261463	0		0		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552850	0.45487	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.99	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	L	0.31752	0.955	0.34879	D	0.744376	D;D;P;D	0.89917	0.998;1.0;0.911;0.999	D;D;P;D	0.91635	0.999;0.999;0.821;0.991	T	0.59032	-0.7530	10	0.25751	T	0.34	.	11.0214	0.47720	0.0675:0.0:0.8031:0.1294	.	425;745;710;745	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	I	753;718;745;710;425	ENSP00000358365:L753I;ENSP00000358367:L718I;ENSP00000353078:L745I;ENSP00000353666:L710I	ENSP00000353078:L745I	L	-	1	2	NRAP	115375807	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	3.491000	0.53252	1.529000	0.49120	0.655000	0.94253	CTA			0.612	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050425.2		NM_006175		T	115385817	G	T	115385817	3	4	78	1	0	0	0	0	1	0	0	0	10655	962	34	2	3047	2	NRAP	10	115385817	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	16259277	115385817	20148930	29	5533											
MUC2	4583	hgsc.bcm.edu	37	chr11	1092602	1092619	+	In_Frame_Del	DEL	CCACCACTCCCAGCCCTC	CCACCACTCCCAGCCCTC	-																															caccactcccagccctccaaCcaccactcccagccctccaa																								rs201595190|rs201608750|rs547682241	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	CCACCACTCCCAGCCCTC	CCACCACTCCCAGCCCTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:1092602_1092619delCCACCACTCCCAGCCCTC	ENST00000441003.2	+	30	4448_4465	c.4421_4438delCCACCACTCCCAGCCCTC	c.(4420-4440)accaccactcccagccctcca>aca	p.TTPSPP1475del	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_In_Frame_Del_p.TTPSPP1476del|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4210	Approximate repeats.				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)	agccctccaaccaccactcccagccctccaaccaccac	0.628																																					p.1474_1479del													.	MUC2	614		0			c.4420_4437del									764,1992		44,676,658						-2.6	0		dbSNP_134	244	1546,3660		46,1454,1103	no	coding	MUC2	NM_002457.2		90,2130,1761	A1A1,A1R,RR		29.6965,27.7213,29.0128				2310,5652				SO:0001651	inframe_deletion	4583	exon30			CTCCAACCACCAC	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.4421_4438delCCACCACTCCCAGCCCTC	11.37:g.1092602_1092619delCCACCACTCCCAGCCCTC	ENSP00000415183:p.Thr1475_Pro1480del		145	0	0		119	0.18	21	NM_002457	6	0	0	Q14878	In_Frame_Del	DEL	ENST00000441003.2	37																																																																																						0.628	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		-	1092619	CCACCACTCCCAGCCCTC	-	1092602	7	5	78	1	0	1	0	1	0	0	0	0	9991	507	18	0	4539	0	MUC2	11	1092602	In_Frame_Del	DEL	CCACCACTCCCAGCCCTC	TCGA-2G-AAM3-01A-11D-A435-10		1092602	133913914	30	5534											
STK33	65975	mdanderson.org	37	chr11	8474400	8474400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcccacatgtggcctgCagcatggcttcactcctact	7	10	10	14	0	1	0	1	0	0	0	3	1	3	1	3	3	3	3	3	3	1	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:8474400C>T	ENST00000447869.1	-	7	1758	c.840G>A	c.(838-840)ctG>ctA	p.L280L	STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396673.1_Silent_p.L280L|STK33_ENST00000396672.1_Silent_p.L280L|STK33_ENST00000534493.1_Silent_p.L239L|STK33_ENST00000358872.3_Silent_p.L93L|STK33_ENST00000315204.1_Silent_p.L280L			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ATGTGGCCTGCAGCATGGCTT	0.448																																					p.L280L													.	.			0			c.G840A												144	150	148					11																	8474400		2201	4296	6497	SO:0001819	synonymous_variant	65975	exon9			GGCCTGCAGCATG	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.840G>A	11.37:g.8474400C>T			93	0	0		72	0.06	4	NM_030906	9	0	0	Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	CCDS7789.1																																																																																					0.448	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276819.2		NM_030906		T	8474400	C	T	8474400	2	4	78	1	0	0	0	0	0	0	0	1	15323	697	25	2		2	STK33	11	8474400	Silent	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	7381798	8474400	126532116	31	5535											
MAP3K11	399909	mdanderson.org	37	chr11	65380520	65380520	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatcacggtggatgacGggcaccagggcctcgcagtg	8	7	16	10	3	1	2	1	2	0	1	2	4	1	3	2	4	0	2	2	4	0	1	rs144950486		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:65380520G>A	ENST00000355703.3	+	0	0				MAP3K11_ENST00000530153.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.P236P	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGTGGATGACGGGCACCAGGG	0.627													G|||	1	0.000199681	0	0	5008	,	,		17974	0		0.001	False		,,,				2504	0				p.P236P													.	.			0			c.C708T							G		0,4402		0,0,2201	84	76	79		708	-5.3	0.9	11	dbSNP_134	79	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	MAP3K11	NM_002419.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		236/848	65380520	1,12995	2201	4297	6498	SO:0001631	upstream_gene_variant	4296	exon1			GATGACGGGCACC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380520G>A	Exception_encountered		94	0	0		47	0.06	3	NM_002419	84	0	0	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																			0		0.627	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390321.1		NM_032223		A	65380520	G	A	65380520	1	1	78	0	1	0	0	0	0	0	0	0	9261	1103	39	1		1	MAP3K11	11	65380520	5'Flank	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	56906120	65380520	69625996	32	5536											
GPR152	390212	mdanderson.org	37	chr11	67219522	67219522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcgggctgctgttggCggtggcaggtgcgacaggct	4	8	20	9	3	0	0	0	0	0	0	0	1	0	0	0	7	3	6	0	7	0	1			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:67219522C>T	ENST00000312457.2	-	1	678	c.674G>A	c.(673-675)cGc>cAc	p.R225H	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	225						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)			CTGCTGTTGGCGGTGGCAGGT	0.677																																					p.R225H	Pancreas(102;800 1581 2723 7382 33622)												.	.			0			c.G674A												29	31	30					11																	67219522		2199	4290	6489	SO:0001583	missense	390212	exon1			TGTTGGCGGTGGC	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.674G>A	11.37:g.67219522C>T	ENSP00000310255:p.Arg225His		28	0	0		33	0.09	3	NM_206997	0		0	Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	3.494	-0.103182	0.06967	.	.	ENSG00000175514	ENST00000312457	T	0.73047	-0.71	4.58	-2.21	0.06973	GPCR, rhodopsin-like superfamily (1);	0.603724	0.13674	N	0.370681	T	0.53546	0.1803	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35724	-0.9777	10	0.31617	T	0.26	.	6.0474	0.19768	0.0:0.3564:0.1369:0.5068	.	225	Q8TDT2	GP152_HUMAN	H	225	ENSP00000310255:R225H	ENSP00000310255:R225H	R	-	2	0	GPR152	66976098	0.000000	0.05858	0.030000	0.17652	0.007000	0.05969	-0.119000	0.10676	-0.330000	0.08514	-0.254000	0.11334	CGC			0.677	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397623.1				T	67219522	C	T	67219522	3	4	78	1	0	0	0	0	1	0	0	0	6672	768	27	1	742	1	GPR152	11	67219522	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	1839002	67219522	67786994	33	5537											
LRP5	4041	mdanderson.org	37	chr11	68192718	68192718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgggcaagctgttctggGtggacgcggacctgaagcgc	7	7	16	11	3	1	1	0	1	1	0	1	3	1	3	1	4	2	3	1	4	2	1			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:68192718G>T	ENST00000294304.7	+	15	3491	c.3385G>T	c.(3385-3387)Gtg>Ttg	p.V1129L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1129	Beta-propeller 4.				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						GCTGTTCTGGGTGGACGCGGA	0.657																																					p.V1129L													.	.			0			c.G3385T												91	63	73					11																	68192718		2200	4294	6494	SO:0001583	missense	4041	exon15			TTCTGGGTGGACG	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.3385G>T	11.37:g.68192718G>T	ENSP00000294304:p.Val1129Leu		25	0	0		16	0.13	2	NM_002335	66	0	0	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987530	0.74589	.	.	ENSG00000162337	ENST00000294304	D	0.95482	-3.72	4.93	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.43579	U	0.000545	D	0.95611	0.8573	M	0.70787	2.145	0.58432	D	0.999996	P;P	0.37207	0.587;0.587	B;B	0.42959	0.403;0.403	D	0.95350	0.8446	10	0.45353	T	0.12	.	18.3758	0.90435	0.0:0.0:1.0:0.0	.	1129;1129	Q9UES7;O75197	.;LRP5_HUMAN	L	1129	ENSP00000294304:V1129L	ENSP00000294304:V1129L	V	+	1	0	LRP5	67949294	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.944000	0.70219	2.580000	0.87095	0.485000	0.47835	GTG			0.657	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395088.1		NM_002335		T	68192718	G	T	68192718	3	4	78	1	0	0	0	0	1	0	0	0	8976	1261	44	3	3443	3	LRP5	11	68192718	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	973196	68192718	66813798	34	5538											
OAF	220323	bcgsc.ca	37	chr11	120082052	120082052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccgctgctcgcgcCgctgctgggaacgggtgcgc	2	7	17	15	6	0	0	0	0	0	0	1	1	0	1	2	2	6	6	2	2	1	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:120082052C>A	ENST00000328965.4	+	1	578	c.65C>A	c.(64-66)cCg>cAg	p.P22Q	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	22						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ctgctcgcgccgctgctgGGA	0.801																																					p.P22Q													.	OAF	12		0			c.C65A												1	2	2					11																	120082052		985	2276	3261	SO:0001583	missense	220323	exon1			TCGCGCCGCTGCT	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.65C>A	11.37:g.120082052C>A	ENSP00000332613:p.Pro22Gln		17	0	0		20	0.2	4	NM_178507	3	0	0		Missense_Mutation	SNP	ENST00000328965.4	37	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	C	9.977	1.226980	0.22542	.	.	ENSG00000184232	ENST00000328965	T	0.29142	1.58	4.12	-1.55	0.08558	.	0.424586	0.20886	N	0.083913	T	0.13756	0.0333	N	0.19112	0.55	0.21697	N	0.999583	B	0.29671	0.254	B	0.26202	0.067	T	0.16335	-1.0406	10	0.27082	T	0.32	-6.7503	5.2199	0.15364	0.0:0.4681:0.2747:0.2571	.	22	Q86UD1	OAF_HUMAN	Q	22	ENSP00000332613:P22Q	ENSP00000332613:P22Q	P	+	2	0	OAF	119587262	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.687000	0.05156	-0.311000	0.08754	0.462000	0.41574	CCG			0.801	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388036.2		NM_178507		A	120082052	C	A	120082052	3	1	78	1	0	0	0	0	1	0	0	0	10815	652	23	1	67	1	OAF	11	120082052	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	51889334	120082052	14924464	35	5539											
VSIG2	23584	mdanderson.org	37	chr11	124619760	124619760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcataagggattactgggggGaactgcaaaaaaaaaaaaaa	21	5	11	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	2	0	4	10	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:124619760G>T	ENST00000326621.5	-	4	530	c.430C>A	c.(430-432)Ccc>Acc	p.P144T	VSIG2_ENST00000403470.1_Missense_Mutation_p.P144T	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	144	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)		TTACTGGGGGGAACTGCaaaa	0.458																																					p.P144T													.	.			0			c.C430A												31	32	31					11																	124619760		2201	4299	6500	SO:0001583	missense	23584	exon4			TGGGGGGAACTGC	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.430C>A	11.37:g.124619760G>T	ENSP00000318684:p.Pro144Thr		41	0	0		29	0.07	2	NM_014312	84	0	0	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808374	0.70797	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.22539	1.95;1.95	5.18	5.18	0.71444	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.46521	0.1397	M	0.72479	2.2	0.45005	D	0.998025	D	0.89917	1.0	D	0.91635	0.999	T	0.41088	-0.9528	10	0.66056	D	0.02	.	15.7165	0.77672	0.0:0.0:1.0:0.0	.	144	Q96IQ7	VSIG2_HUMAN	T	144	ENSP00000318684:P144T;ENSP00000385013:P144T	ENSP00000318684:P144T	P	-	1	0	VSIG2	124124970	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.543000	0.53633	2.680000	0.91292	0.655000	0.94253	CCC			0.458	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317785.1		NM_014312		T	124619760	G	T	124619760	3	4	78	1	0	0	0	0	1	0	0	0	17248	1174	41	3	569	3	VSIG2	11	124619760	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	4537708	124619760	10386756	36	5540											
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	6127718	6127718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgggcaccacctggatGtctccaggcagcctcttgat	8	9	10	14	0	2	1	0	1	2	0	3	2	2	2	5	3	1	2	5	3	1	1			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr12:6127718G>A	ENST00000261405.5	-	28	5120	c.4866C>T	c.(4864-4866)gaC>gaT	p.D1622D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1622	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACCTGGATGTCTCCAGGCA	0.592																																					p.D1622D													.	.			0			c.C4866T												56	51	53					12																	6127718		2203	4300	6503	SO:0001819	synonymous_variant	7450	exon28			CTGGATGTCTCCA		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.4866C>T	12.37:g.6127718G>A			131	0	0		378	0.1	39	NM_000552	194	0	0	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																					0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399020.1		NM_000552		A	6127718	G	A	6127718	2	1	78	1	0	0	0	0	0	0	0	1	17270	1368	48	3		3	VWF	12	6127718	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		6127718	127724177	37	5541											
ATN1	1822	mdanderson.org	37	chr12	7045915	7045915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcagcagca	14	0	13	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	13	0	0	0	0	rs148885085	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr12:7045915G>A	ENST00000356654.4	+	5	1722	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	ATN1_ENST00000396684.2_Silent_p.Q495Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	495	Poly-Gln.				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)			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						agcagcagcagcagcagcagc	0.642																																					p.Q495Q													ATN1,colon,carcinoma,0,1	ATN1	0	1	0			c.G1485A							G	,	2,4360		0,2,2179	40	52	48		1485,1485		0.5	12	dbSNP_134	48	9,8531		0,9,4261	no	coding-synonymous,coding-synonymous	ATN1	NM_001007026.1,NM_001940.3	,	0,11,6440	AA,AG,GG		0.1054,0.0459,0.0853	,	495/1191,495/1191	7045915	11,12891	2181	4270	6451	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	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.1485G>A	12.37:g.7045915G>A			75	0.0133333333	1		180	0.03	6	NM_001007026	533	0	1	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			0		0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401948.2		NM_001940		A	7045915	G	A	7045915	2	1	78	1	0	0	0	0	0	0	0	1	1111	962	34	2		2	ATN1	12	7045915	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	918197	7045915	126805980	38	5542											
ZDHHC17	23390	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	77209655	77209655	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtggatccaactagattGcttttaacattcaatgtttc	11	16	7	7	0	1	1	1	0	0	1	3	2	2	2	1	1	3	2	1	1	4	6			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr12:77209655G>A	ENST00000426126.2	+	7	1276	c.627G>A	c.(625-627)ttG>ttA	p.L209L	ZDHHC17_ENST00000334822.5_Silent_p.L209L|ZDHHC17_ENST00000359019.4_Silent_p.L159L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	209					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CAACTAGATTGCTTTTAACAT	0.343																																					p.L209L													.	ZDHHC17	45		0			c.G627A												70	64	66					12																	77209655		1858	4091	5949	SO:0001819	synonymous_variant	23390	exon7			TAGATTGCTTTTA	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.627G>A	12.37:g.77209655G>A			339	0.0029498525	1		333	0.28	93	NM_015336	2	0.5	1	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	CCDS44946.1																																																																																					0.343	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406555.1		NM_015336		A	77209655	G	A	77209655	2	1	78	1	0	0	0	0	0	0	0	1	17630	1310	46	2		2	ZDHHC17	12	77209655	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	70163740	77209655	56642240	39	5543											
KL	9365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	33638015	33638015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatggtatcaatctttgcGgatactttgcttattcgttt	7	19	9	6	2	2	0	1	0	1	0	3	2	2	2	0	3	3	3	0	3	4	7			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr13:33638015G>A	ENST00000380099.3	+	5	2739	c.2731G>A	c.(2731-2733)Gga>Aga	p.G911R	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	911	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CAATCTTTGCGGATACTTTGC	0.403																																					p.G911R													.	.			0			c.G2731A												172	179	177					13																	33638015		2203	4300	6503	SO:0001583	missense	9365	exon5			CTTTGCGGATACT	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2731G>A	13.37:g.33638015G>A	ENSP00000369442:p.Gly911Arg		175	0	0		138	0.18	25	NM_004795	3	0.67	2	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760334	0.69763	.	.	ENSG00000133116	ENST00000380099	T	0.74737	-0.87	5.33	5.33	0.75918	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93399	0.6758	10	0.87932	D	0	-16.9139	19.0196	0.92908	0.0:0.0:1.0:0.0	.	911	Q9UEF7	KLOT_HUMAN	R	911	ENSP00000369442:G911R	ENSP00000369442:G911R	G	+	1	0	KL	32536015	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	9.697000	0.98697	2.484000	0.83849	0.655000	0.94253	GGA			0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045987.1				A	33638015	G	A	33638015	3	1	78	1	0	0	0	0	1	0	0	0	8346	1117	39	1	2749	1	KL	13	33638015	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		33638015	81531863	40	5544											
UGGT2	55757	mdanderson.org	37	chr13	96530037	96530037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccgaggaggctgttctGtcactttatcaaagcattgt	9	12	10	10	1	3	0	2	0	1	0	3	3	3	1	2	2	1	3	2	2	2	4			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr13:96530037G>T	ENST00000376747.3	-	28	3372	c.3302C>A	c.(3301-3303)aCa>aAa	p.T1101K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1101					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						AGGCTGTTCTGTCACTTTATC	0.383																																					p.T1101K													.	.			0			c.C3302A												156	149	151					13																	96530037		2203	4300	6503	SO:0001583	missense	55757	exon28			TGTTCTGTCACTT	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.3302C>A	13.37:g.96530037G>T	ENSP00000365938:p.Thr1101Lys		73	0	0		36	0.08	3	NM_020121	11	0	0	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328972	0.60743	.	.	ENSG00000102595	ENST00000376747	T	0.31769	1.48	5.14	4.29	0.51040	.	0.055869	0.64402	D	0.000001	T	0.53578	0.1805	M	0.73319	2.225	0.80722	D	1	D;D	0.76494	0.999;0.98	D;P	0.77557	0.99;0.876	T	0.53989	-0.8360	10	0.39692	T	0.17	-7.185	15.0737	0.72059	0.0:0.0:0.8571:0.1429	.	1101;1101	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	K	1101	ENSP00000365938:T1101K	ENSP00000365938:T1101K	T	-	2	0	UGGT2	95328038	1.000000	0.71417	0.117000	0.21633	0.341000	0.28922	8.962000	0.93254	1.145000	0.42336	0.467000	0.42956	ACA			0.383	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045507.1		NM_020121		T	96530037	G	T	96530037	3	4	78	1	0	0	0	0	1	0	0	0	16966	1377	48	3	1296	3	UGGT2	13	96530037	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	62892022	96530037	18639841	41	5545											
C14orf159	80017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	91655323	91655323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctctctcgctgtcccatgCccgctcagtgctcatcacca	5	11	6	19	2	5	0	3	0	2	0	8	0	6	0	3	0	2	3	3	0	0	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr14:91655323C>T	ENST00000523771.1	+	9	1592	c.989C>T	c.(988-990)gCc>gTc	p.A330V	C14orf159_ENST00000520328.1_Missense_Mutation_p.A318V|C14orf159_ENST00000523816.1_Missense_Mutation_p.A330V|C14orf159_ENST00000412671.2_Missense_Mutation_p.A335V|C14orf159_ENST00000518868.1_Missense_Mutation_p.A335V|C14orf159_ENST00000256324.10_Missense_Mutation_p.A335V|C14orf159_ENST00000525393.2_Missense_Mutation_p.A206V|C14orf159_ENST00000522322.1_Missense_Mutation_p.A330V|C14orf159_ENST00000428926.2_Missense_Mutation_p.A330V|C14orf159_ENST00000521077.2_Missense_Mutation_p.A335V			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	330						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CTGTCCCATGCCCGCTCAGTG	0.522																																					p.A335V													.	.			0			c.C1004T												58	50	53					14																	91655323		2203	4300	6503	SO:0001583	missense	80017	exon9			CCCATGCCCGCTC	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.989C>T	14.37:g.91655323C>T	ENSP00000429655:p.Ala330Val		106	0	0		87	0.2	17	NM_001102368	84	0.2	17	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589090	0.46110	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	4.78	2.87	0.33458	.	0.264967	0.37530	N	0.002056	T	0.44850	0.1313	M	0.80508	2.5	0.09310	N	0.999998	P;D;D;P;P;P	0.76494	0.811;0.999;0.964;0.775;0.775;0.775	P;D;P;B;B;B	0.70935	0.572;0.971;0.767;0.436;0.436;0.436	T	0.34625	-0.9821	10	0.72032	D	0.01	.	11.1218	0.48296	0.145:0.7154:0.1395:0.0	.	330;206;335;318;335;335	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	V	318;335;335;335;330;335;206;330;330;330;335	ENSP00000429453:A318V;ENSP00000256324:A335V;ENSP00000430137:A335V;ENSP00000428263:A335V;ENSP00000428974:A330V;ENSP00000428652:A335V;ENSP00000435459:A206V;ENSP00000404343:A330V;ENSP00000427953:A330V;ENSP00000429655:A330V;ENSP00000404196:A335V	ENSP00000256324:A335V	A	+	2	0	C14orf159	90725076	0.543000	0.26434	0.005000	0.12908	0.097000	0.18754	2.809000	0.47971	0.378000	0.24764	0.655000	0.94253	GCC			0.522	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381273.1		NM_024952		T	91655323	C	T	91655323	3	4	78	1	0	0	0	0	1	0	0	0	1757	739	26	2	1030	2	C14orf159	14	91655323	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10		91655323	15694217	42	5546											
BDKRB2	624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	96707057	96707057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggggagacgctctgccGcgtggtgaatgccattatct	6	12	13	10	3	2	2	0	1	2	1	2	3	2	2	2	3	2	1	2	3	2	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr14:96707057G>A	ENST00000306005.3	+	3	588	c.392G>A	c.(391-393)cGc>cAc	p.R131H	BDKRB2_ENST00000542454.2_Missense_Mutation_p.R104H|BDKRB2_ENST00000539359.1_Missense_Mutation_p.R104H|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R131H|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	131					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)	ACGCTCTGCCGCGTGGTGAAT	0.582																																					p.R131H													BDKRB2,NS,carcinoma,0,1	BDKRB2	0	1	0			c.G392A												150	153	152					14																	96707057		2203	4300	6503	SO:0001583	missense	624	exon3			TCTGCCGCGTGGT	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.392G>A	14.37:g.96707057G>A	ENSP00000307713:p.Arg131His		42	0	0		46	0.2	9	NM_000623	2	1	2		Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084490	0.55861	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.68	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.306399	0.29594	N	0.011707	T	0.78773	0.4336	M	0.74546	2.27	0.30931	N	0.726901	D	0.89917	1.0	D	0.71414	0.973	T	0.77297	-0.2640	10	0.87932	D	0	-36.4159	4.274	0.10800	0.175:0.0:0.607:0.218	.	131	P30411	BKRB2_HUMAN	H	104;131;131;104	ENSP00000439459:R104H;ENSP00000450482:R131H;ENSP00000307713:R131H;ENSP00000438376:R104H	ENSP00000307713:R131H	R	+	2	0	BDKRB2	95776810	0.984000	0.35163	1.000000	0.80357	0.624000	0.37722	2.326000	0.43849	2.317000	0.78254	0.561000	0.74099	CGC			0.582	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413294.1				A	96707057	G	A	96707057	3	1	78	1	0	0	0	0	1	0	0	0	1393	1087	38	1	398	1	BDKRB2	14	96707057	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	5051734	96707057	10642483	43	5547											
LIPC	3990	mdanderson.org	37	chr15	58834136	58834136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacccgccttgtgggcaaGgaggtcgcggctcttctccg	6	8	13	14	4	2	0	0	0	2	0	4	1	2	1	3	4	1	2	3	4	2	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr15:58834136G>T	ENST00000356113.6	+	5	1041	c.426G>T	c.(424-426)aaG>aaT	p.K142N	LIPC_ENST00000299022.5_Missense_Mutation_p.K142N|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000414170.3_Missense_Mutation_p.K142N			P11150	LIPC_HUMAN	lipase, hepatic	142					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTGTGGGCAAGGAGGTCGCGG	0.627																																					p.K142N													.	.			0			c.G426T												53	40	44					15																	58834136		2191	4292	6483	SO:0001583	missense	3990	exon3			GGGCAAGGAGGTC		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.426G>T	15.37:g.58834136G>T	ENSP00000348425:p.Lys142Asn		32	0	0		30	0.1	3	NM_000236	4	0	0	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012974	0.35511	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022	D;D;D	0.91124	-2.79;-2.79;-2.79	4.53	2.56	0.30785	Lipase, N-terminal (1);	0.200751	0.44483	D	0.000460	D	0.84243	0.5429	L	0.37561	1.115	0.80722	D	1	P	0.37594	0.601	B	0.40506	0.331	T	0.79257	-0.1878	10	0.35671	T	0.21	.	6.2387	0.20778	0.22:0.1409:0.6391:0.0	.	142	P11150	LIPC_HUMAN	N	142	ENSP00000348425:K142N;ENSP00000395569:K142N;ENSP00000299022:K142N	ENSP00000299022:K142N	K	+	3	2	LIPC	56621428	0.006000	0.16342	1.000000	0.80357	0.705000	0.40729	0.183000	0.16919	1.092000	0.41356	0.407000	0.27541	AAG			0.627	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416209.1				T	58834136	G	T	58834136	3	4	78	1	0	0	0	0	1	0	0	0	8835	991	35	3	436	3	LIPC	15	58834136	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		58834136	43697256	44	5548											
HERC1	8925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	63935695	63935695	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtccgaacaggagtgaTgtgtccccgcagctgataaa	13	7	11	10	2	0	2	0	2	0	0	2	4	2	3	3	1	3	2	3	1	4	1	rs375304469		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr15:63935695T>C	ENST00000443617.2	-	58	11326	c.11239A>G	c.(11239-11241)Atc>Gtc	p.I3747V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3747					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						ACAGGAGTGATGTGTCCCCGC	0.418																																					p.I3747V													.	.			0			c.A11239G							T	VAL/ILE	1,3881		0,1,1940	63	63	63		11239	5.3	1	15		63	0,8272		0,0,4136	no	missense	HERC1	NM_003922.3	29	0,1,6076	CC,CT,TT		0.0,0.0258,0.0082	benign	3747/4862	63935695	1,12153	1941	4136	6077	SO:0001583	missense	8925	exon58			GAGTGATGTGTCC	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.11239A>G	15.37:g.63935695T>C	ENSP00000390158:p.Ile3747Val		358	0	0		295	0.31	92	NM_003922	10	0.4	4	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.538670	0.65085	2.58E-4	0.0	ENSG00000103657	ENST00000443617	T	0.59906	0.23	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000001	T	0.42245	0.1194	N	0.10837	0.055	0.52099	D	0.999946	B	0.22541	0.071	B	0.28638	0.092	T	0.34850	-0.9812	10	0.41790	T	0.15	.	15.4671	0.75409	0.0:0.0:0.0:1.0	.	3747	Q15751	HERC1_HUMAN	V	3747	ENSP00000390158:I3747V	ENSP00000390158:I3747V	I	-	1	0	HERC1	61722748	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.114000	0.64651	0.460000	0.39030	ATC			0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418523.1		NM_003922		C	63935695	T	C	63935695	3	2	78	1	0	0	0	0	1	0	0	0	7072	1464	51	4	3430	4	HERC1	15	63935695	Missense_Mutation	SNP	T	TCGA-2G-AAM3-01A-11D-A435-10	5101559	63935695	38595697	45	5549											
TBL3	10607	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	2024635	2024635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgatacacacggcccccGtggccaccatggccttcgac	8	5	11	17	4	0	0	0	0	0	0	1	2	0	0	5	4	1	0	5	4	1	2	rs138822494	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:2024635G>T	ENST00000568546.1	+	5	462	c.334G>T	c.(334-336)Gtg>Ttg	p.V112L		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	112					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CACGGCCCCCGTGGCCACCAT	0.667																																					p.V112L	Melanoma(118;616 1651 35077 38081 48633)												.	TBL3	54		0			c.G334T												29	32	31					16																	2024635		2198	4297	6495	SO:0001583	missense	10607	exon5			GCCCCCGTGGCCA	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.334G>T	16.37:g.2024635G>T	ENSP00000454836:p.Val112Leu		53	0	0		74	0.07	5	NM_006453	62	0	0	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113732	0.94339	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	4.97	0.65823	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	0.80358	0.4608	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83497	0.0073	9	0.72032	D	0.01	-20.8972	17.2223	0.86961	0.0:0.0:1.0:0.0	.	112	Q12788	TBL3_HUMAN	L	112	.	ENSP00000331815:V112L	V	+	1	0	TBL3	1964636	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.185000	0.72013	2.301000	0.77427	0.561000	0.74099	GTG			0.667	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250615.3		NM_006453		T	2024635	G	T	2024635	3	4	78	1	0	0	0	0	1	0	0	0	15666	1145	40	1	352	1	TBL3	16	2024635	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		2024635	88330118	46	5550											
BCL7C	9274	mdanderson.org	37	chr16	30905198	30905198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaccttctcgatggtcGccatcaccttcttgatgtca	6	13	8	14	3	4	1	2	1	2	0	7	3	5	2	4	2	0	0	4	2	0	3			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:30905198G>A	ENST00000215115.4	-	1	1083	c.68C>T	c.(67-69)gCg>gTg	p.A23V	MIR4519_ENST00000565573.1_RNA|CTF1_ENST00000279804.2_5'Flank|MIR4519_ENST00000564901.1_RNA|CTF1_ENST00000395019.3_5'Flank|MIR762_ENST00000390236.1_RNA|MIR4519_ENST00000570025.1_RNA|BCL7C_ENST00000380317.4_Missense_Mutation_p.A23V|AC106782.20_ENST00000572471.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	23					apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			CTCGATGGTCGCCATCACCTT	0.711																																					p.A23V													.	.			0			c.C68T												55	45	48					16																	30905198		2197	4300	6497	SO:0001583	missense	9274	exon1			ATGGTCGCCATCA	AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.68C>T	16.37:g.30905198G>A	ENSP00000215115:p.Ala23Val		45	0	0		40	0.08	3	NM_004765	297	0	1	O43770|Q6PD89	Missense_Mutation	SNP	ENST00000215115.4	37	CCDS10693.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288887	0.80914	.	.	ENSG00000099385	ENST00000380317;ENST00000215115	T;T	0.50548	0.74;0.75	5.08	4.12	0.48240	.	0.107347	0.38605	N	0.001634	T	0.38188	0.1031	L	0.36672	1.1	0.52099	D	0.999947	B;B	0.23990	0.095;0.078	B;B	0.20577	0.03;0.017	T	0.23619	-1.0183	10	0.52906	T	0.07	-12.5734	12.6102	0.56546	0.0829:0.0:0.9171:0.0	.	23;23	Q8WUZ0;Q8WUZ0-2	BCL7C_HUMAN;.	V	23	ENSP00000369674:A23V;ENSP00000215115:A23V	ENSP00000215115:A23V	A	-	2	0	BCL7C	30812699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.894000	0.92506	1.148000	0.42385	0.478000	0.44815	GCG			0.711	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255547.3		NM_004765		A	30905198	G	A	30905198	3	1	78	1	0	0	0	0	1	0	0	0	1380	1087	38	1	609	1	BCL7C	16	30905198	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	28880563	30905198	59449555	47	5551											
IRX6	79190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	55363165	55363165	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactaccgctgaactgtgcGccgtgcccgcggaggagcga	7	5	16	13	6	0	1	0	1	0	0	0	5	0	4	3	3	5	1	3	3	2	1			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:55363165G>T	ENST00000290552.7	+	5	2607	c.1275G>T	c.(1273-1275)gcG>gcT	p.A425A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	425					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						TGAACTGTGCGCCGTGCCCGC	0.612																																					p.A425A													.	.			0			c.G1275T												42	49	47					16																	55363165		2198	4300	6498	SO:0001819	synonymous_variant	79190	exon5			CTGTGCGCCGTGC	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.1275G>T	16.37:g.55363165G>T			60	0	0		65	0.23	15	NM_024335	9	0.22	2	B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																					0.612	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417445.4		NM_024335		T	55363165	G	T	55363165	2	4	78	1	0	0	0	0	0	0	0	1	7863	1074	38	1		1	IRX6	16	55363165	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	24457967	55363165	34991588	48	5552											
MTSS1L	92154	mdanderson.org	37	chr16	70698197	70698197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgggcagccccgcggtggGcagcccagcagtggaggctg	5	4	19	13	3	0	0	0	0	0	0	0	1	0	1	3	5	3	4	3	5	0	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:70698197G>A	ENST00000338779.6	-	15	1901	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	543					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCCGCGGTGGGCAGCCCAGCA	0.711																																					p.P543S													.	.			0			c.C1627T												22	24	24					16																	70698197		2190	4280	6470	SO:0001583	missense	92154	exon15			CGGTGGGCAGCCC		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1627C>T	16.37:g.70698197G>A	ENSP00000341171:p.Pro543Ser		32	0	0		14	0.14	2	NM_138383	31	0	0	A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219350	0.58560	.	.	ENSG00000132613	ENST00000338779	T	0.37584	1.19	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	M	0.66939	2.045	0.42075	D	0.991223	D	0.89917	1.0	D	0.85130	0.997	T	0.59757	-0.7394	10	0.39692	T	0.17	-25.5832	15.8708	0.79117	0.0:0.0:1.0:0.0	.	543	Q765P7	MTSSL_HUMAN	S	543	ENSP00000341171:P543S	ENSP00000341171:P543S	P	-	1	0	MTSS1L	69255698	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	9.154000	0.94694	1.790000	0.52503	0.462000	0.41574	CCC			0.711	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434927.3		NM_138383		A	70698197	G	A	70698197	3	1	78	1	0	0	0	0	1	0	0	0	9979	1203	42	2	620	2	MTSS1L	16	70698197	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	15335032	70698197	19656556	49	5553											
ANKRD11	29123	mdanderson.org	37	chr16	89346584	89346584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggggccggcgaaggcGtccgcccagggcaccggctc	4	4	16	17	6	0	0	0	0	0	0	4	1	2	0	5	6	0	2	5	6	1	0	rs202049186		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:89346584G>T	ENST00000301030.4	-	9	6826	c.6366C>A	c.(6364-6366)gaC>gaA	p.D2122E	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D2122E	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2122	Pro-rich.				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)		CGGCGAAGGCGTCCGCCCAGG	0.692																																					p.D2122E													.	.			0			c.C6366A												7	9	8					16																	89346584		2128	4170	6298	SO:0001583	missense	29123	exon9			GAAGGCGTCCGCC	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.6366C>A	16.37:g.89346584G>T	ENSP00000301030:p.Asp2122Glu		42	0	0		22	0.09	2	NM_013275	44	0	0	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	7.320	0.616725	0.14129	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.52057	0.68;0.68	5.44	-7.55	0.01327	.	0.146689	0.42294	N	0.000732	T	0.21227	0.0511	N	0.19112	0.55	0.80722	D	1	B	0.30033	0.266	B	0.26416	0.069	T	0.03000	-1.1084	10	0.39692	T	0.17	.	6.559	0.22476	0.2883:0.1003:0.5131:0.0983	.	2122	Q6UB99	ANR11_HUMAN	E	2122	ENSP00000301030:D2122E;ENSP00000367581:D2122E	ENSP00000301030:D2122E	D	-	3	2	ANKRD11	87874085	0.033000	0.19621	0.002000	0.10522	0.165000	0.22458	-0.576000	0.05854	-1.819000	0.01216	-0.524000	0.04348	GAC			0.692	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		T	89346584	G	T	89346584	3	4	78	1	0	0	0	0	1	0	0	0	639	1136	40	1	1645	1	ANKRD11	16	89346584	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	18648387	89346584	1008169	50	5554											
MYBBP1A	10514	broad.mit.edu	37	chr17	4458537	4458537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcgcgactgtgcttcaatAggccatagcggtcggcaggc	8	8	13	12	4	1	0	1	0	0	0	3	1	1	0	1	4	2	2	1	4	3	3			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:4458537A>G	ENST00000254718.4	-	1	389	c.83T>C	c.(82-84)cTa>cCa	p.L28P	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L28P			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	28	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						GTGCTTCAATAGGCCATAGCG	0.632																																					p.L28P													.	MYBBP1A	69		0			c.T83C												24	25	24					17																	4458537		2201	4299	6500	SO:0001583	missense	10514	exon1			TTCAATAGGCCAT	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.83T>C	17.37:g.4458537A>G	ENSP00000254718:p.Leu28Pro		90	0	0		115	0.03	3	NM_014520	20	0	0	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317450	0.60524	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.20881	2.04;2.04	4.94	4.94	0.65067	.	0.274555	0.31177	N	0.008113	T	0.29914	0.0748	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	P;D	0.67548	0.896;0.952	T	0.02603	-1.1135	10	0.27785	T	0.31	-18.9917	13.5475	0.61713	1.0:0.0:0.0:0.0	.	28;28	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	P	28	ENSP00000370968:L28P;ENSP00000254718:L28P	ENSP00000254718:L28P	L	-	2	0	MYBBP1A	4405286	0.818000	0.29161	0.249000	0.24280	0.005000	0.04900	4.421000	0.59848	2.076000	0.62316	0.482000	0.46254	CTA			0.632	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000207488.2		NM_014520		G	4458537	A	G	4458537	3	3	78	1	0	0	0	0	1	0	0	0	10024	420	15	4	4047	4	MYBBP1A	17	4458537	Missense_Mutation	SNP	A	TCGA-2G-AAM3-01A-11D-A435-10		4458537	76736673	51	5555											
CAMTA2	23125	mdanderson.org	37	chr17	4873732	4873732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcccctgtccgctcccGcattgaggctccagcctcgg	5	7	10	19	3	0	1	0	1	0	0	4	1	3	1	6	2	2	3	6	2	0	1			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:4873732G>A	ENST00000348066.3	-	17	3031	c.2908C>T	c.(2908-2910)Cgg>Tgg	p.R970W	CAMTA2_ENST00000381311.5_Missense_Mutation_p.R972W|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R975W|RP5-1050D4.2_ENST00000430920.1_RNA|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000361571.5_Missense_Mutation_p.R969W|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R993W|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R970W	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	970					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTCCGCTCCCGCATTGAGGCT	0.612																																					p.R993W													.	.			0			c.C2977T												92	88	89					17																	4873732		2203	4300	6503	SO:0001583	missense	23125	exon17			GCTCCCGCATTGA	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2908C>T	17.37:g.4873732G>A	ENSP00000321813:p.Arg970Trp		66	0	0		70	0.06	4	NM_001171167	74	0	0	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617537	0.66787	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.34072	2.58;1.62;1.38;1.62;1.39	5.14	3.06	0.35304	.	0.281347	0.28414	N	0.015429	T	0.46946	0.1419	L	0.43152	1.355	0.28300	N	0.923171	D;D;D;D;D	0.89917	0.999;0.999;0.998;0.997;1.0	P;P;P;P;D	0.79108	0.549;0.642;0.742;0.556;0.992	T	0.32903	-0.9889	10	0.66056	D	0.02	-13.6934	8.0112	0.30355	0.0:0.1455:0.4767:0.3779	.	946;993;972;970;969	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	W	993;972;969;970;970	ENSP00000412886:R993W;ENSP00000370712:R972W;ENSP00000354828:R969W;ENSP00000350910:R970W;ENSP00000321813:R970W	ENSP00000321813:R970W	R	-	1	2	CAMTA2	4814456	0.000000	0.05858	0.843000	0.33291	0.964000	0.63967	-0.958000	0.03857	0.636000	0.30508	0.655000	0.94253	CGG			0.612	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000216876.1		NM_015099		A	4873732	G	A	4873732	3	1	78	1	0	0	0	0	1	0	0	0	2616	1086	38	1	778	1	CAMTA2	17	4873732	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	415195	4873732	76321478	52	5556											
NLGN2	57555	mdanderson.org	37	chr17	7311738	7311738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgagtgcgcggtgtgcGgcgcgagctcaacaacgaga	8	4	18	11	8	1	1	1	0	0	1	1	4	1	1	0	3	5	1	0	3	2	0	rs377690737		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:7311738G>T	ENST00000302926.2	+	1	237	c.164G>T	c.(163-165)cGg>cTg	p.R55L	NLGN2_ENST00000575301.1_Missense_Mutation_p.R55L|NLGN2_ENST00000572893.1_Intron	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	55					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CGCGGTGTGCGGCGCGAGCTC	0.771													N|||	1	0.000199681	0	0	5008	,	,		5594	0		0	False		,,,				2504	0.001				p.R55L													NLGN2,NS,lymphoid_neoplasm,+1,1	NLGN2	1	1	0			c.G164T								LEU/ARG	0,3986		0,0,1993	8	7	7		164	3.3	1	17		7	1,7915		0,1,3957	no	missense	NLGN2	NM_020795.2	102	0,1,5950	TT,TG,GG		0.0126,0.0,0.0084	benign	55/836	7311738	1,11901	1993	3958	5951	SO:0001583	missense	57555	exon1			GTGTGCGGCGCGA	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.164G>T	17.37:g.7311738G>T	ENSP00000305288:p.Arg55Leu		29	0	0		27	0.11	3	NM_020795	1	0	0	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	g	16.35	3.097581	0.56075	0.0	1.26E-4	ENSG00000169992	ENST00000302926	T	0.68624	-0.34	3.34	3.34	0.38264	Carboxylesterase, type B (1);	0.075776	0.48767	D	0.000162	T	0.53206	0.1782	L	0.35593	1.075	0.36478	D	0.867654	B	0.21452	0.056	B	0.16722	0.016	T	0.57929	-0.7726	10	0.30854	T	0.27	.	13.0103	0.58727	0.0:0.0:1.0:0.0	.	55	Q8NFZ4	NLGN2_HUMAN	L	55	ENSP00000305288:R55L	ENSP00000305288:R55L	R	+	2	0	NLGN2	7252462	0.003000	0.15002	1.000000	0.80357	0.995000	0.86356	0.738000	0.26158	2.198000	0.70561	0.436000	0.28706	CGG			0.771	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226941.2		NM_020795		T	7311738	G	T	7311738	3	4	78	1	0	0	0	0	1	0	0	0	10479	1116	39	1	166	1	NLGN2	17	7311738	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	2438006	7311738	73883472	53	5557											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		221	0.0407239819	9		177	0.06	10	NM_145301	21	0.33	7	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	78	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	8145349	15457087	65738123	54	5558											
MAPK7	5598	broad.mit.edu	37	chr17	19285118	19285118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcgcacccctggaggCtcctgagcctcggaagccgg	6	4	13	18	3	0	1	0	1	0	0	2	3	1	3	7	4	3	2	7	4	1	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:19285118C>A	ENST00000308406.5	+	5	1888	c.1502C>A	c.(1501-1503)gCt>gAt	p.A501D	MAPK7_ENST00000395604.3_Missense_Mutation_p.A501D|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.A501D|MAPK7_ENST00000299612.7_Missense_Mutation_p.A362D|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	501	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.A501D(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCCCTGGAGGCTCCTGAGCCT	0.672																																					p.A501D													MAPK7,NS,carcinoma,0,2	MAPK7	72	2	1	Substitution - Missense(1)	endometrium(1)	c.C1502A												10	17	15					17																	19285118		2162	4232	6394	SO:0001583	missense	5598	exon5			TGGAGGCTCCTGA	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1502C>A	17.37:g.19285118C>A	ENSP00000311005:p.Ala501Asp		48	0.0208333333	1		62	0.1	6	NM_002749	76	0.05	4	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248312	0.59103	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.74209	-0.57;-0.82;-0.57;-0.57	4.36	3.39	0.38822	.	0.278335	0.34291	N	0.004097	T	0.62792	0.2457	N	0.22421	0.69	0.33339	D	0.569546	P	0.50943	0.94	P	0.47299	0.543	T	0.71846	-0.4469	10	0.87932	D	0	-7.5638	6.6062	0.22726	0.0:0.7883:0.0:0.2117	.	501	Q13164	MK07_HUMAN	D	501;362;501;501	ENSP00000311005:A501D;ENSP00000299612:A362D;ENSP00000378968:A501D;ENSP00000378966:A501D	ENSP00000299612:A362D	A	+	2	0	MAPK7	19225711	0.988000	0.35896	0.980000	0.43619	0.970000	0.65996	1.704000	0.37857	1.055000	0.40461	0.561000	0.74099	GCT			0.672	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132506.1		NM_139033		A	19285118	C	A	19285118	3	1	78	1	0	0	0	0	1	0	0	0	9298	797	28	2	1516	2	MAPK7	17	19285118	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	3828031	19285118	61910092	55	5559											
CRLF3	51379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29123252	29123252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactggtgggcgagatgctaCtgttccatgcttaaaaatgt	10	13	11	7	1	0	1	0	0	0	1	1	2	1	1	1	2	4	3	1	2	5	4	rs368117589		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:29123252C>T	ENST00000324238.6	-	4	653	c.529G>A	c.(529-531)Gta>Ata	p.V177I	CRLF3_ENST00000544695.1_Missense_Mutation_p.V61I|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	177					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CGAGATGCTACTGTTCCATGC	0.393																																					p.V177I	Pancreas(30;346 881 29244 33464 41299)												.	.			0			c.G529A												129	109	116					17																	29123252		2203	4300	6503	SO:0001583	missense	51379	exon4			ATGCTACTGTTCC	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.529G>A	17.37:g.29123252C>T	ENSP00000318804:p.Val177Ile		100	0	0		94	0.23	22	NM_015986	14	0.21	3	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148303	0.94603	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.31510	1.49;1.49	5.24	5.24	0.73138	Fibronectin, type III (1);	0.056575	0.64402	D	0.000001	T	0.55909	0.1950	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51108	-0.8747	10	0.30854	T	0.27	-19.2649	18.8146	0.92072	0.0:1.0:0.0:0.0	.	177	Q8IUI8	CRLF3_HUMAN	I	177;61	ENSP00000318804:V177I;ENSP00000444188:V61I	ENSP00000318804:V177I	V	-	1	0	CRLF3	26147378	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.059000	0.76684	2.457000	0.83068	0.313000	0.20887	GTA			0.393	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444354.1				T	29123252	C	T	29123252	3	4	78	1	0	0	0	0	1	0	0	0	3890	565	20	3	819	3	CRLF3	17	29123252	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	9838134	29123252	52071958	56	5560											
ATAD5	79915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29162850	29162850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagctgaatctgaagccaGcttgctaaatgtttccacgc	12	11	8	10	1	1	2	0	2	1	0	2	2	2	2	2	0	4	4	2	0	6	4			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:29162850G>T	ENST00000321990.4	+	2	2129	c.1751G>T	c.(1750-1752)aGc>aTc	p.S584I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	584					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)				TCTGAAGCCAGCTTGCTAAAT	0.378																																					p.S584I													.	.			0			c.G1751T												75	71	73					17																	29162850		2203	4300	6503	SO:0001583	missense	79915	exon2			AAGCCAGCTTGCT		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.1751G>T	17.37:g.29162850G>T	ENSP00000313171:p.Ser584Ile		119	0	0		112	0.14	16	NM_024857	2	0	0	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	0.211	-1.036830	0.02013	.	.	ENSG00000176208	ENST00000321990	T	0.09445	2.98	5.31	2.23	0.28157	.	1.314060	0.04639	N	0.405095	T	0.21590	0.0520	M	0.64997	1.995	0.09310	N	1	P;D	0.54397	0.731;0.966	P;P	0.50440	0.549;0.641	T	0.18745	-1.0327	10	0.66056	D	0.02	.	8.4456	0.32841	0.2488:0.0:0.7512:0.0	.	584;584	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	584	ENSP00000313171:S584I	ENSP00000313171:S584I	S	+	2	0	ATAD5	26186976	0.121000	0.22262	0.014000	0.15608	0.041000	0.13682	0.373000	0.20484	0.319000	0.23209	0.655000	0.94253	AGC			0.378	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256206.2		NM_024857		T	29162850	G	T	29162850	3	4	78	1	0	0	0	0	1	0	0	0	1076	971	34	2	1757	2	ATAD5	17	29162850	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	39598	29162850	52032360	57	5561											
GNA13	10672	mdanderson.org	37	chr17	63052637	63052637	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggacttgcgttgctgctcGgcctcgccactcgtcagcag	4	11	12	14	4	1	0	1	0	0	0	4	1	1	1	2	2	4	4	2	2	0	3			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:63052637G>T	ENST00000439174.2	-	1	320	c.75C>A	c.(73-75)gcC>gcA	p.A25A	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	25					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTTGCTGCTCGGCCTCGCCAC	0.667																																					p.A25A													.	.			0			c.C75A												105	99	101					17																	63052637		2203	4300	6503	SO:0001819	synonymous_variant	10672	exon1			CTGCTCGGCCTCG	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.75C>A	17.37:g.63052637G>T			45	0	0		41	0.07	3	NM_006572	17	0	0	B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	37	CCDS11661.1																																																																																					0.667	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445720.1		NM_006572		T	63052637	G	T	63052637	2	4	78	1	0	0	0	0	0	0	0	1	6515	1103	39	1		1	GNA13	17	63052637	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	33889787	63052637	18142573	58	5562											
OTOP3	347741	bcgsc.ca	37	chr17	72931942	72931942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcagtcccgctgggggAgggcgtcgcgggcatcggtc	3	6	19	13	6	0	0	0	0	0	0	4	1	1	1	1	5	1	3	1	5	0	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:72931942A>G	ENST00000328801.4	+	1	46	c.46A>G	c.(46-48)Agg>Ggg	p.R16G		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	16						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)					CCGCTGGGGGAGGGCGTCGCG	0.647																																					p.R16G													.	OTOP3	64		0			c.A46G												7	10	9					17																	72931942		1527	2715	4242	SO:0001583	missense	347741	exon1			TGGGGGAGGGCGT	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.46A>G	17.37:g.72931942A>G	ENSP00000328090:p.Arg16Gly		31	0	0		35	0.11	4	NM_178233	0		0		Missense_Mutation	SNP	ENST00000328801.4	37	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490247	0.44249	.	.	ENSG00000182938	ENST00000328801	T	0.09445	2.98	3.7	2.62	0.31277	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.25132	N	0.990563	B	0.02656	0.0	B	0.04013	0.001	T	0.35400	-0.9790	9	0.54805	T	0.06	.	5.6163	0.17434	0.8707:0.0:0.1293:0.0	.	16	Q7RTS5	OTOP3_HUMAN	G	16	ENSP00000328090:R16G	ENSP00000328090:R16G	R	+	1	2	OTOP3	70443537	0.992000	0.36948	0.879000	0.34478	0.832000	0.47134	1.732000	0.38146	0.493000	0.27837	0.379000	0.24179	AGG			0.647	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445308.1		NM_178233		G	72931942	A	G	72931942	3	3	78	1	0	0	0	0	1	0	0	0	11324	295	11	4	48	4	OTOP3	17	72931942	Missense_Mutation	SNP	A	TCGA-2G-AAM3-01A-11D-A435-10	9879305	72931942	8263268	59	5563											
ZSWIM4	65249	mdanderson.org	37	chr19	13915706	13915706	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgctgcaagatcacgtcCgtgagctgcggctgtgacaa	9	8	13	11	4	1	3	1	2	0	1	3	4	2	3	1	1	3	4	1	1	2	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr19:13915706C>A	ENST00000254323.2	+	3	645	c.456C>A	c.(454-456)tcC>tcA	p.S152S	ZSWIM4_ENST00000440752.2_5'Flank	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	152							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGATCACGTCCGTGAGCTGCG	0.632											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S152S													.	.			0			c.C456A												76	76	76					19																	13915706		2203	4300	6503	SO:0001819	synonymous_variant	65249	exon3			CACGTCCGTGAGC	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.456C>A	19.37:g.13915706C>A			70	0	0	691	43	0.07	3	NM_023072	5	0	0		Silent	SNP	ENST00000254323.2	37	CCDS32924.1																																																																																					0.632	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457457.1		XM_031342		A	13915706	C	A	13915706	2	1	78	1	0	0	0	0	0	0	0	1	18266	639	23	1		1	ZSWIM4	19	13915706	Silent	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10		13915706	45213277	60	5564											
ATP1A3	478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42474678	42474678	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggacttctttaggttGtcgaagatcaggcggcctgt	8	12	13	8	2	2	1	1	0	1	1	3	3	2	2	1	4	0	2	1	4	3	4			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr19:42474678G>A	ENST00000302102.5	-	17	2430	c.2280C>T	c.(2278-2280)gaC>gaT	p.D760D	ATP1A3_ENST00000602133.1_Silent_p.D730D|ATP1A3_ENST00000543770.1_Silent_p.D771D|ATP1A3_ENST00000545399.1_Silent_p.D773D	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	760					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|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)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCTTTAGGTTGTCGAAGATCA	0.622																																					p.D773D													.	.			0			c.C2319T												132	118	123					19																	42474678		2203	4300	6503	SO:0001819	synonymous_variant	478	exon17			TAGGTTGTCGAAG		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2280C>T	19.37:g.42474678G>A			104	0	0		91	0.32	29	NM_001256214	0		0	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	CCDS12594.1																																																																																					0.622	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000268107.1		NM_152296		A	42474678	G	A	42474678	2	1	78	1	0	0	0	0	0	0	0	1	1130	1368	48	3		3	ATP1A3	19	42474678	Silent	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	28558972	42474678	16654305	61	5565											
ZNF574	64763	bcgsc.ca	37	chr19	42584137	42584155	+	Frame_Shift_Del	DEL	CCGCTGCCCCAGGCACCTA	CCGCTGCCCCAGGCACCTA	-																															tgaggagacctcagcagggcCcgctgccccaggcacctacc																								rs116193035	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	CCGCTGCCCCAGGCACCTA	CCGCTGCCCCAGGCACCTA					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr19:42584137_42584155delCCGCTGCCCCAGGCACCTA	ENST00000600245.1	+	2	2034_2052	c.1379_1397delCCGCTGCCCCAGGCACCTA	c.(1378-1398)cccgctgccccaggcacctacfs	p.PAAPGTY460fs	ZNF574_ENST00000359044.4_Frame_Shift_Del_p.PAAPGTY460fs|ZNF574_ENST00000222339.7_Frame_Shift_Del_p.PAAPGTY550fs|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TCAGCAGGGCCCGCTGCCCCAGGCACCTACCGCTGCCTC	0.626																																					p.460_466del													.	ZNF574	57		0			c.1379_1397del																																									SO:0001589	frameshift_variant	64763	exon2			CAGGGCCCGCTGC	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1379_1397delCCGCTGCCCCAGGCACCTA	19.37:g.42584137_42584155delCCGCTGCCCCAGGCACCTA	ENSP00000469029:p.Pro460fs		59	0	0		55	0.09	5	NM_022752	23	0	0	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Frame_Shift_Del	DEL	ENST00000600245.1	37	CCDS12596.1																																																																																					0.626	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463458.1		NM_022752		-	42584155	CCGCTGCCCCAGGCACCTA	-	42584137	7	5	78	1	0	1	0	1	0	0	0	0	18029	623	22	0	1381	0	ZNF574	19	42584137	Frame_Shift_Del	DEL	CCGCTGCCCCAGGCACCTA	TCGA-2G-AAM3-01A-11D-A435-10	109459	42584137	16544846	62	5566											
MZF1	7593	mdanderson.org	37	chr19	59074032	59074032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcacaggcgaagggccgctCgccactgtgcacgcgccggt	6	4	16	15	6	0	0	0	0	0	0	1	1	0	0	3	4	1	3	3	4	1	0			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr19:59074032C>T	ENST00000215057.2	-	6	2172	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Missense_Mutation_p.E538K|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	538					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AAGGGCCGCTCGCCACTGTGC	0.721																																					p.E538K													.	.			0			c.G1612A												4	4	4					19																	59074032		1904	3782	5686	SO:0001583	missense	7593	exon6			GCCGCTCGCCACT	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1612G>A	19.37:g.59074032C>T	ENSP00000215057:p.Glu538Lys		10	0	0		10	0.2	2	NM_003422	13	0	0	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	19.06	3.753776	0.69648	.	.	ENSG00000099326	ENST00000215057	T	0.24350	1.86	3.57	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38164	N	0.001785	T	0.42154	0.1190	M	0.75615	2.305	0.40282	D	0.978408	D	0.63880	0.993	P	0.54346	0.749	T	0.51803	-0.8659	10	0.87932	D	0	-10.6344	13.4588	0.61214	0.0:1.0:0.0:0.0	.	538	P28698	MZF1_HUMAN	K	538	ENSP00000215057:E538K	ENSP00000215057:E538K	E	-	1	0	MZF1	63765844	0.207000	0.23482	0.962000	0.40283	0.856000	0.48823	2.844000	0.48246	2.281000	0.76405	0.462000	0.41574	GAG			0.721	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467112.1		NM_198055		T	59074032	C	T	59074032	3	4	78	1	0	0	0	0	1	0	0	0	10124	893	31	1	596	1	MZF1	19	59074032	Missense_Mutation	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	16489895	59074032	54951	63	5567											
ARFGEF2	10564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	47588957	47588957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactctgacgaggatctGtgcaggtatttccacctggg	8	11	12	10	1	3	2	1	1	2	1	4	4	4	3	2	3	1	2	2	3	1	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr20:47588957G>C	ENST00000371917.4	+	11	1520	c.1520G>C	c.(1519-1521)tGt>tCt	p.C507S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	507					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.C507S(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)			ACGAGGATCTGTGCAGGTATT	0.408																																					p.C507S	Esophageal Squamous(176;1738 1974 26285 33069 35354)												ARFGEF2,NS,carcinoma,0,1	ARFGEF2	0	1	1	Substitution - Missense(1)	breast(1)	c.G1520C												76	73	74					20																	47588957		2203	4300	6503	SO:0001583	missense	10564	exon11			GGATCTGTGCAGG	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.1520G>C	20.37:g.47588957G>C	ENSP00000360985:p.Cys507Ser		85	0	0		96	0.11	11	NM_006420	4	0.25	1	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423950	0.62733	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.49720	0.77	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	M	0.66297	2.02	0.80722	D	1	B	0.18610	0.029	B	0.31245	0.126	T	0.48725	-0.9010	10	0.46703	T	0.11	.	16.532	0.84364	0.0:0.1303:0.8696:0.0	.	507	Q9Y6D5	BIG2_HUMAN	S	507	ENSP00000360985:C507S	ENSP00000360985:C507S	C	+	2	0	ARFGEF2	47022364	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.555000	0.82223	2.793000	0.96121	0.655000	0.94253	TGT			0.408	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079627.1		NM_006420		C	47588957	G	C	47588957	3	2	78	1	0	0	0	0	1	0	0	0	853	1377	48	5	1562	5	ARFGEF2	20	47588957	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		47588957	15436563	64	5568											
WDR4	10785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	44273835	44273835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgctgtctgcgggcgtcCagctggaagatgtagaccac	9	8	13	11	2	1	2	0	0	1	2	2	3	2	3	2	2	4	3	2	2	3	1			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr21:44273835C>T	ENST00000398208.2	-	9	878	c.819G>A	c.(817-819)ctG>ctA	p.L273L	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Silent_p.L273L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TGCGGGCGTCCAGCTGGAAGA	0.617																																					p.L273L													.	.			0			c.G819A												21	18	19					21																	44273835		2190	4285	6475	SO:0001819	synonymous_variant	10785	exon9			GGCGTCCAGCTGG	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.819G>A	21.37:g.44273835C>T			36	0	0		48	0.13	6	NM_018669	15	0.2	3		Silent	SNP	ENST00000398208.2	37	CCDS13691.1																																																																																					0.617	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195479.1				T	44273835	C	T	44273835	2	4	78	1	0	0	0	0	0	0	0	1	17317	581	21	3		3	WDR4	21	44273835	Silent	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10		44273835	3856060	65	5569											
ITGB2	3689	mdanderson.org	37	chr21	46308737	46308737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggggttgttcgacagctGcaggcccggacacgccgcgc	6	5	15	15	6	0	0	0	0	0	0	1	2	0	1	2	4	2	4	2	4	0	2			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr21:46308737G>T	ENST00000397850.2	-	15	2403	c.1951C>A	c.(1951-1953)Cag>Aag	p.Q651K	ITGB2_ENST00000397852.1_Missense_Mutation_p.Q651K|ITGB2_ENST00000397854.3_Missense_Mutation_p.Q594K|ITGB2_ENST00000397857.1_Missense_Mutation_p.Q651K|ITGB2_ENST00000355153.4_Missense_Mutation_p.Q651K|ITGB2_ENST00000302347.5_Missense_Mutation_p.Q651K			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	651					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCGACAGCTGCAGGCCCGGA	0.662																																					p.Q651K													.	.			0			c.C1951A												68	62	64					21																	46308737		2203	4300	6503	SO:0001583	missense	3689	exon14			ACAGCTGCAGGCC	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1951C>A	21.37:g.46308737G>T	ENSP00000380948:p.Gln651Lys		39	0	0		48	0.06	3	NM_001127491	71	0	0	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090502	0.07053	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.07	-5.68	0.02436	Integrin beta subunit, tail (2);	.	.	.	.	T	0.70937	0.3281	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.61724	-0.7004	9	0.07325	T	0.83	.	8.81	0.34961	0.0:0.1831:0.1622:0.6546	.	594;651	A8MYE6;P05107	.;ITB2_HUMAN	K	651;651;594;651;651;651	ENSP00000380950:Q651K;ENSP00000380955:Q651K;ENSP00000380952:Q594K;ENSP00000347279:Q651K;ENSP00000380948:Q651K;ENSP00000303242:Q651K	ENSP00000303242:Q651K	Q	-	1	0	ITGB2	45133165	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.536000	0.02208	-0.846000	0.04174	0.655000	0.94253	CAG			0.662	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206566.2		NM_000211		T	46308737	G	T	46308737	3	4	78	1	0	0	0	0	1	0	0	0	7909	1328	46	2	370	2	ITGB2	21	46308737	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	2034902	46308737	1821158	66	5570											
MYO18B	84700	ucsc.edu	37	chr22	26239830	26239830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccaacctctcggccctgGatgcaccccaggtcctgcac	7	6	9	19	1	1	0	0	0	1	0	3	1	2	1	6	3	4	2	6	3	1	0	rs377148843		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr22:26239830G>T	ENST00000407587.2	+	18	3509	c.3340G>T	c.(3340-3342)Gat>Tat	p.D1114Y	MYO18B_ENST00000335473.7_Missense_Mutation_p.D1113Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1113Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1113	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						CTCGGCCCTGGATGCACCCCA	0.602																																					p.D1113Y													.	MYO18B	322		0			c.G3337T							G	TYR/ASP	0,3940		0,0,1970	37	38	38		3337	3.5	1	22		38	1,8261		0,1,4130	no	missense	MYO18B	NM_032608.5	160	0,1,6100	TT,TG,GG		0.0121,0.0,0.0082	possibly-damaging	1113/2568	26239830	1,12201	1970	4131	6101	SO:0001583	missense	84700	exon18			GCCCTGGATGCAC	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.3340G>T	22.37:g.26239830G>T	ENSP00000386096:p.Asp1114Tyr		41	0	0		39	0.1	4	NM_032608	0		0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	18.60	3.659465	0.67586	0.0	1.21E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.74526	-0.85;-0.85;-0.85	4.55	3.48	0.39840	Myosin head, motor domain (2);	0.353824	0.30565	N	0.009345	T	0.77745	0.4176	L	0.54965	1.715	0.35494	D	0.79919	D;D;D;D	0.63046	0.983;0.992;0.98;0.991	P;D;P;P	0.63703	0.807;0.917;0.805;0.865	T	0.81747	-0.0791	10	0.87932	D	0	.	5.3115	0.15833	0.2221:0.0:0.7779:0.0	.	626;1113;1114;1113	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	Y	1113;1113;1114	ENSP00000441229:D1113Y;ENSP00000334563:D1113Y;ENSP00000386096:D1114Y	ENSP00000334563:D1113Y	D	+	1	0	MYO18B	24569830	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	6.292000	0.72725	2.373000	0.80994	0.650000	0.86243	GAT			0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000400691.1		NM_032608		T	26239830	G	T	26239830	3	4	78	1	0	0	0	0	1	0	0	0	10082	1174	41	3	3403	3	MYO18B	22	26239830	Missense_Mutation	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10		26239830	25064736	67	5571											
GAS2L1	10633	mdanderson.org	37	chr22	29706886	29706886	+	IGR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcccaccaccagtccccGccctgctagcccagtccctg	5	6	8	22	2	0	0	0	0	0	0	3	0	2	0	8	0	2	1	8	0	1	1	rs572882535		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr22:29706886G>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000341313.6_Missense_Mutation_p.R303L|GAS2L1_ENST00000360113.2_Intron|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R303L|GAS2L1_ENST00000471961.1_Missense_Mutation_p.R303L|GAS2L1_ENST00000407854.1_Missense_Mutation_p.R303L|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R303L|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R303L|RASL10A_ENST00000608559.1_5'Flank	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						ACCAGTCCCCGCCCTGCTAGC	0.672																																					p.R303L													.	.			0			c.G908T												60	68	65					22																	29706886		2203	4300	6503	SO:0001628	intergenic_variant	10634	exon5			GTCCCCGCCCTGC	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29706886G>T			34	0	0		24	0.13	3	NM_152237	27	0	0	Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	g	16.20	3.055035	0.55325	.	.	ENSG00000185340	ENST00000407647;ENST00000333679;ENST00000406549;ENST00000341313;ENST00000403764;ENST00000471961;ENST00000407854	T;T;T;T;T;T	0.51325	0.71;0.74;0.87;0.71;0.71;0.71	4.08	4.08	0.47627	.	0.160277	0.39020	N	0.001499	T	0.49643	0.1569	L	0.27053	0.805	0.80722	D	1	B;D;D;D	0.59357	0.125;0.985;0.969;0.969	B;P;P;P	0.60173	0.034;0.87;0.586;0.586	T	0.42015	-0.9476	10	0.30078	T	0.28	-9.2493	13.8136	0.63278	0.0:0.0:1.0:0.0	.	303;303;303;303	B5MCR7;E7EQM6;A0A5E8;Q99501	.;.;.;GA2L1_HUMAN	L	303	ENSP00000385554:R303L;ENSP00000383995:R303L;ENSP00000344012:R303L;ENSP00000385358:R303L;ENSP00000450152:R303L;ENSP00000385023:R303L	ENSP00000332834:R303L	R	+	2	0	GAS2L1	28036886	0.169000	0.23002	0.995000	0.50966	0.367000	0.29736	4.491000	0.60326	2.116000	0.64780	0.306000	0.20318	CGC			0.672	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321342.1				T	29706886	G	T	29706886	1	4	78	0	1	0	0	0	0	0	0	0	6260	1087	38	1		1	GAS2L1	22	29706886	IGR	SNP	G	TCGA-2G-AAM3-01A-11D-A435-10	3467056	29706886	21597680	68	5572											
FBLN1	2192	mdanderson.org	37	chr22	45927186	45927186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaacaagaggacccatatCtgaatgaccgctgccgaggt	13	6	12	10	2	1	3	0	2	1	1	1	6	1	5	3	3	2	1	3	3	4	1			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr22:45927186C>T	ENST00000327858.6	+	5	621	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	FBLN1_ENST00000262722.7_Silent_p.L176L|FBLN1_ENST00000340923.5_Silent_p.L176L|FBLN1_ENST00000442170.2_Silent_p.L176L|FBLN1_ENST00000348697.2_Silent_p.L176L|FBLN1_ENST00000402984.3_Silent_p.L214L	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	176	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GGACCCATATCTGAATGACCG	0.478																																					p.L176L													.	.			0			c.C526T												114	116	115					22																	45927186		2203	4300	6503	SO:0001819	synonymous_variant	2192	exon5			CCATATCTGAATG		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.526C>T	22.37:g.45927186C>T			39	0	0		44	0.07	3	NM_006486	457	0	0	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																					0.478	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000322287.1		NM_006486		T	45927186	C	T	45927186	2	4	78	1	0	0	0	0	0	0	0	1	5711	912	32	3		3	FBLN1	22	45927186	Silent	SNP	C	TCGA-2G-AAM3-01A-11D-A435-10	16220300	45927186	5377380	69	5573											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																					p.N648D													.	FAM47C	267		7	Substitution - Missense(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	c.A1942G												51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444	exon1			CCTCCCAATACTG	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp		109	0.0091743119	1		123	0.04	5	NM_001013736	0		0	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT			0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060508.1		NM_001013736		G	37028425	A	G	37028425	3	3	78	1	0	0	0	0	1	0	0	0	5584	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-2G-AAM3-01A-11D-A435-10		37028425	118242135	70	5574											
PHC2	1912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	33832793	33832793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccttccatgctccctggCacactgctgttgccatctcc	4	11	8	18	1	1	0	0	0	1	0	4	0	3	0	5	2	3	4	5	2	0	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr1:33832793C>T	ENST00000257118.5	-	6	953	c.900G>A	c.(898-900)gtG>gtA	p.V300V	PHC2_ENST00000419414.2_Silent_p.V300V|PHC2_ENST00000431992.1_Silent_p.V271V|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	300					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCTCCCTGGCACACTGCTGT	0.592																																					p.V300V													.	.			0			c.G900A												76	74	75					1																	33832793		2203	4300	6503	SO:0001819	synonymous_variant	1912	exon6			CCCTGGCACACTG	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.900G>A	1.37:g.33832793C>T			126	0	0		82	0.28	23	NM_198040	2	0.5	1	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	CCDS378.1																																																																																					0.592	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000011895.1		NM_198040		T	33832793	C	T	33832793	2	4	79	1	0	0	0	0	0	0	0	1	11834	697	25	2		2	PHC2	1	33832793	Silent	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10		33832793	215417828	1	5575											
ARID4B	51742	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	235345258	235345258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcaatgggtttactatcGacattgactggaggtggttt	8	16	11	6	1	2	1	1	1	1	0	3	3	2	2	0	4	1	2	0	4	3	6			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr1:235345258G>A	ENST00000264183.3	-	20	3473	c.2976C>T	c.(2974-2976)gtC>gtT	p.V992V	ARID4B_ENST00000366603.2_Silent_p.V992V|ARID4B_ENST00000349213.3_Silent_p.V906V|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	992					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GTTTACTATCGACATTGACTG	0.463																																					p.V992V													.	.			0			c.C2976T												137	145	142					1																	235345258		2203	4300	6503	SO:0001819	synonymous_variant	51742	exon20			ACTATCGACATTG	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2976C>T	1.37:g.235345258G>A			111	0	0		106	0.06	6	NM_016374	42	0.07	3	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.071024	0.00379	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.1	-10.2	0.00374	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.53005	D	0.999967	.	.	.	.	.	.	T	0.45011	-0.9290	4	.	.	.	-1.0993	3.8309	0.08874	0.5658:0.1466:0.1036:0.184	.	.	.	.	L	392	.	.	S	-	2	0	ARID4B	233411881	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-1.323000	0.02692	-2.883000	0.00318	-0.482000	0.04802	TCG			0.463	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095566.3		NM_016374		A	235345258	G	A	235345258	2	1	79	1	0	0	0	0	0	0	0	1	920	1045	37	1		1	ARID4B	1	235345258	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	201512465	235345258	13905363	2	5576											
LGALS8	3964	broad.mit.edu	37	chr1	236706865	236706865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttcttttcagaggctGccattcgctgcaaggttgaa	7	13	12	9	1	2	2	1	1	1	1	3	2	2	2	1	3	2	5	1	3	2	5			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr1:236706865G>A	ENST00000366584.4	+	8	1121	c.555G>A	c.(553-555)ctG>ctA	p.L185L	LGALS8_ENST00000323938.6_Silent_p.L158L|LGALS8_ENST00000526589.1_Silent_p.L227L|LGALS8_ENST00000525042.1_Silent_p.L168L|LGALS8_ENST00000450372.2_Silent_p.L227L|LGALS8_ENST00000527974.1_Silent_p.L227L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000341872.6_Silent_p.L185L|LGALS8_ENST00000352231.2_Silent_p.L227L|LGALS8_ENST00000416919.2_Silent_p.L168L|LGALS8_ENST00000526634.1_Silent_p.L185L	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	185					plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCAGAGGCTGCCATTCGCTG	0.512																																					p.L227L													.	LGALS8	42		0			c.G681A												69	62	65					1																	236706865		2203	4300	6503	SO:0001819	synonymous_variant	3964	exon10			GAGGCTGCCATTC	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.555G>A	1.37:g.236706865G>A			129	0	0		115	0.03	4	NM_006499	85	0	0	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Silent	SNP	ENST00000366584.4	37	CCDS1612.1																																																																																					0.512	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000096365.2		NM_006499		A	236706865	G	A	236706865	2	1	79	1	0	0	0	0	0	0	0	1	8762	1306	46	2		2	LGALS8	1	236706865	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	1361607	236706865	12543756	3	5577											
C2orf50	130813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	11273603	11273603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttgctggtggctgccaggCcccccaggctctgaaggcgc	4	8	14	15	1	2	1	0	1	2	0	2	1	2	1	4	5	2	3	4	5	1	1	rs529991308		TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr2:11273603C>A	ENST00000381585.3	+	1	425	c.143C>A	c.(142-144)gCc>gAc	p.A48D	AC062028.1_ENST00000396164.1_lincRNA|C2orf50_ENST00000405022.3_Missense_Mutation_p.A48D			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	48										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GGCTGCCAGGCCCCCCAGGCT	0.731													C|||	1	0.000199681	0	0	5008	,	,		14306	0		0.001	False		,,,				2504	0				p.A48D													.	.			0			c.C143A																																									SO:0001583	missense	130813	exon1			GCCAGGCCCCCCA	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.143C>A	2.37:g.11273603C>A	ENSP00000370997:p.Ala48Asp		38	0	0		37	0.38	14	NM_182500	6	0.5	3	A8K9W3|D6W503	Missense_Mutation	SNP	ENST00000381585.3	37	CCDS1678.1	.	.	.	.	.	.	.	.	.	.	C	8.586	0.883399	0.17467	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	3.41	-2.28	0.06826	.	1.520670	0.04096	N	0.312114	T	0.35128	0.0921	L	0.50333	1.59	0.09310	N	1	B	0.24317	0.101	B	0.22386	0.039	T	0.35475	-0.9787	9	0.48119	T	0.1	5.6444	5.297	0.15758	0.2919:0.4056:0.3024:0.0	.	48	Q96LR7	CB050_HUMAN	D	48	.	ENSP00000370997:A48D	A	+	2	0	C2orf50	11191054	0.000000	0.05858	0.002000	0.10522	0.112000	0.19704	0.008000	0.13197	-0.059000	0.13154	0.472000	0.43445	GCC			0.731	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239268.1		NM_182500		A	11273603	C	A	11273603	3	1	79	1	0	0	0	0	1	0	0	0	2174	739	26	2	145	2	C2orf50	2	11273603	Missense_Mutation	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10		11273603	231925770	4	5578											
DNMT3A	1788	mdanderson.org	37	chr2	25523020	25523020	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcaccggggggtgcttGcgcttcctcccaggccgccc	4	7	12	18	3	1	0	1	0	0	0	3	0	3	0	5	4	2	2	5	4	0	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr2:25523020G>T	ENST00000264709.3	-	3	502	c.165C>A	c.(163-165)cgC>cgA	p.R55R	DNMT3A_ENST00000406659.3_Silent_p.R55R|DNMT3A_ENST00000321117.5_Silent_p.R55R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	55					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)					GGGGGTGCTTGCGCTTCCTCC	0.652			"Mis, F, N, S"		AML																																p.R55R				Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.			0			c.C165A												92	72	79					2																	25523020		2203	4300	6503	SO:0001819	synonymous_variant	1788	exon3			GTGCTTGCGCTTC		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.165C>A	2.37:g.25523020G>T			27	0.037037037	1		33	0.09	3	NM_175630	45	0	0	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	CCDS33157.1																																																																																					0.652	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000211587.1		NM_022552		T	25523020	G	T	25523020	2	4	79	1	0	0	0	0	0	0	0	1	4681	1306	46	2		2	DNMT3A	2	25523020	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	14249417	25523020	217676353	5	5579											
SLC8A1	6546	broad.mit.edu;mdanderson.org	37	chr2	40342735	40342735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggaggcgtctgcatactgGtcctgggtggctgccacttt	5	12	14	10	1	1	0	0	0	1	0	2	1	2	1	2	5	3	2	2	5	1	2	rs564442817		TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr2:40342735G>T	ENST00000403092.1	-	11	2613	c.2580C>A	c.(2578-2580)gaC>gaA	p.D860E	SLC8A1_ENST00000402441.1_Missense_Mutation_p.D824E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D852E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D860E|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D824E|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406785.2_Missense_Mutation_p.D824E|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D824E|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D855E|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D855E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D824E|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	860					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)	CTGCATACTGGTCCTGGGTGG	0.532																																					p.D860E													.	SLC8A1	221		0			c.C2580A												73	73	73					2																	40342735		2203	4300	6503	SO:0001583	missense	6546	exon10			ATACTGGTCCTGG		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.2580C>A	2.37:g.40342735G>T	ENSP00000384763:p.Asp860Glu		25	0	0		29	0.41	12	NM_021097	1	0	0	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429343	0.62844	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	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	6.07	5.19	0.71726	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;D	0.89917	0.99;1.0;1.0;1.0	D;D;D;D	0.97110	0.978;0.998;0.989;1.0	T	0.82402	-0.0475	10	0.87932	D	0	.	13.3147	0.60401	0.0761:0.0:0.9239:0.0	.	824;847;855;860	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	E	824;860;855;860;855;824;824;860;852;847;824;824	ENSP00000383886:D824E;ENSP00000440727:D855E;ENSP00000384763:D860E;ENSP00000385678:D855E;ENSP00000385188:D824E;ENSP00000385535:D824E;ENSP00000332931:D860E;ENSP00000384908:D852E;ENSP00000385811:D824E;ENSP00000443515:D824E	ENSP00000332931:D860E	D	-	3	2	SLC8A1	40196239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.059000	0.41384	1.577000	0.49804	0.655000	0.94253	GAC			0.532	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326065.1		NM_021097		T	40342735	G	T	40342735	3	4	79	1	0	0	0	0	1	0	0	0	14729	1252	44	3	345	3	SLC8A1	2	40342735	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	14819715	40342735	202856638	6	5580											
SRGAP3	9901	mdanderson.org	37	chr3	9036124	9036124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcggtggtacaggagcaGcgaggcccccttcttgaagg	7	6	17	11	3	1	1	0	1	1	0	1	3	1	2	2	6	3	2	2	6	2	3			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr3:9036124G>T	ENST00000383836.3	-	19	2738	c.2311C>A	c.(2311-2313)Ctg>Atg	p.L771M	SRGAP3_ENST00000360413.3_Missense_Mutation_p.L747M	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	771	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TACAGGAGCAGCGAGGCCCCC	0.587			T	RAF1	pilocytic astrocytoma																																p.L771M				Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	.			0			c.C2311A												76	76	76					3																	9036124		2203	4300	6503	SO:0001583	missense	9901	exon19			GGAGCAGCGAGGC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2311C>A	3.37:g.9036124G>T	ENSP00000373347:p.Leu771Met		43	0	0		48	0.06	3	NM_014850	9	0	0	Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965218	0.92855	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.57752	0.38;0.38	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.64402	D	0.000001	T	0.78240	0.4252	M	0.89785	3.06	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.78314	0.986;0.991	D	0.83439	0.0042	10	0.72032	D	0.01	.	18.1343	0.89612	0.0:0.0:1.0:0.0	.	747;771	O43295-2;O43295	.;SRGP2_HUMAN	M	771;747	ENSP00000373347:L771M;ENSP00000353587:L747M	ENSP00000353587:L747M	L	-	1	2	SRGAP3	9011124	1.000000	0.71417	0.941000	0.38009	0.926000	0.56050	6.532000	0.73825	2.433000	0.82419	0.650000	0.86243	CTG			0.587	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207137.3				T	9036124	G	T	9036124	3	4	79	1	0	0	0	0	1	0	0	0	15170	962	34	2	1004	2	SRGAP3	3	9036124	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		9036124	188986306	7	5581											
ALS2CL	259173	mdanderson.org	37	chr3	46728533	46728533	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgttgcacgtgatgggcGagtggctggtggagggcctg	5	10	19	7	2	0	1	0	1	0	0	0	3	0	2	1	5	2	3	1	5	1	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr3:46728533G>T	ENST00000318962.4	-	5	557	c.474C>A	c.(472-474)ctC>ctA	p.L158L	ALS2CL_ENST00000415953.1_Silent_p.L158L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	158					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)		CGTGATGGGCGAGTGGCTGGT	0.682																																					p.L158L													.	.			0			c.C474A												46	45	45					3																	46728533		2203	4297	6500	SO:0001819	synonymous_variant	259173	exon5			ATGGGCGAGTGGC	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.474C>A	3.37:g.46728533G>T			62	0	0		32	0.09	3	NM_001190707	16	0	0	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	CCDS2743.1																																																																																					0.682	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250567.3		NM_147129		T	46728533	G	T	46728533	2	4	79	1	0	0	0	0	0	0	0	1	551	1045	37	1		1	ALS2CL	3	46728533	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	37692409	46728533	151293897	8	5582											
KIF9	64147	broad.mit.edu	37	chr3	47312777	47312777	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttgtgaggtgaactgAcaagcccttaatgaagactc	12	10	10	9	0	0	6	0	5	0	1	1	6	0	6	1	1	2	0	1	1	4	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr3:47312777A>G	ENST00000265529.3	-	6	1221	c.541T>C	c.(541-543)Tca>Cca	p.S181P	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Missense_Mutation_p.S181P|KIF9_ENST00000452770.2_Missense_Mutation_p.S181P|KIF9_ENST00000444589.2_Missense_Mutation_p.S181P|KIF9_ENST00000352910.4_Missense_Mutation_p.S88P			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	181	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)		AGGTGAACTGACAAGCCCTTA	0.502																																					p.S181P	Colon(44;962 1147 15977 24541)												.	KIF9	59		0			c.T541C												80	72	74					3																	47312777		2203	4300	6503	SO:0001583	missense	64147	exon5			GAACTGACAAGCC	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.541T>C	3.37:g.47312777A>G	ENSP00000265529:p.Ser181Pro		108	0	0		89	0.03	3	NM_182902	2	0	0	Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118714	0.77323	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.33	5.33	0.75918	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.89015	0.6595	M	0.86864	2.845	0.42623	D	0.993353	D;D	0.76494	0.997;0.999	D;D	0.77557	0.976;0.99	D	0.91088	0.4904	10	0.87932	D	0	.	14.3028	0.66364	1.0:0.0:0.0:0.0	.	181;181	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	P	181;181;181;181;88	ENSP00000333942:S181P;ENSP00000265529:S181P;ENSP00000414987:S181P;ENSP00000391100:S181P;ENSP00000292334:S88P	ENSP00000265529:S181P	S	-	1	0	KIF9	47287781	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.735000	0.55044	2.243000	0.73865	0.529000	0.55759	TCA			0.502	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257475.2				G	47312777	A	G	47312777	3	3	79	1	0	0	0	0	1	0	0	0	8325	275	10	4	1899	4	KIF9	3	47312777	Missense_Mutation	SNP	A	TCGA-2G-AAM4-01A-11D-A435-10	584244	47312777	150709653	9	5583											
IQCF3	401067	mdanderson.org	37	chr3	51864702	51864702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatgtgcaatgctctctGcttgttccaggtcccagaga	9	11	9	12	0	1	1	0	0	1	1	4	2	3	1	3	1	3	4	3	1	2	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr3:51864702G>T	ENST00000456080.1	+	8	1515	c.350G>T	c.(349-351)tGc>tTc	p.C117F	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000437810.2_Missense_Mutation_p.C117F|IQCF3_ENST00000444293.1_Silent_p.L80L|IQCF3_ENST00000446775.1_Missense_Mutation_p.C117F|IQCF3_ENST00000440739.2_Missense_Mutation_p.C117F			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	117	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AATGCTCTCTGCTTGTTCCAG	0.537																																					p.C117F													.	.			0			c.G350T												91	93	92					3																	51864702		2121	4238	6359	SO:0001583	missense	401067	exon7			CTCTCTGCTTGTT	AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.350G>T	3.37:g.51864702G>T	ENSP00000415609:p.Cys117Phe		93	0	0		82	0.05	4	NM_001085479	0		0	B2RUV0	Missense_Mutation	SNP	ENST00000456080.1	37	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	g	9.933	1.215351	0.22373	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.72	2.88	0.33553	.	.	.	.	.	T	0.24044	0.0582	L	0.46157	1.445	0.09310	N	1	B	0.23249	0.082	B	0.29267	0.1	T	0.34601	-0.9822	9	0.10111	T	0.7	.	6.846	0.23988	0.0958:0.1759:0.7283:0.0	.	117	P0C7M6	IQCF3_HUMAN	F	117	ENSP00000415609:C117F;ENSP00000409373:C117F;ENSP00000401767:C117F;ENSP00000402012:C117F	ENSP00000409373:C117F	C	+	2	0	IQCF3	51839742	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	1.136000	0.31467	0.691000	0.31592	0.655000	0.94253	TGC			0.537	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346579.2		NM_001085479		T	51864702	G	T	51864702	3	4	79	1	0	0	0	0	1	0	0	0	7824	1319	46	2	360	2	IQCF3	3	51864702	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	4551925	51864702	146157728	10	5584											
CPN2	1370	mdanderson.org	37	chr3	194062273	194062273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagggccaggttgaacaGgttgtagttggtgtcgaaga	9	10	17	5	1	0	2	0	1	0	1	1	3	0	2	1	4	2	5	1	4	3	4			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr3:194062273G>T	ENST00000323830.3	-	2	1248	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M	CPN2_ENST00000429275.1_Missense_Mutation_p.L387M	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	387					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGGTTGAACAGGTTGTAGTTG	0.592																																					p.L387M													.	.			0			c.C1159A												95	102	100					3																	194062273		2203	4300	6503	SO:0001583	missense	1370	exon2			TGAACAGGTTGTA	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1159C>A	3.37:g.194062273G>T	ENSP00000319464:p.Leu387Met		92	0	0		56	0.05	3	NM_001080513	0		0	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071125	0.55646	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.48836	0.8;0.8	5.56	4.67	0.58626	.	0.000000	0.30890	N	0.008672	T	0.73377	0.3579	M	0.93197	3.39	0.33007	D	0.526952	D	0.89917	1.0	D	0.87578	0.998	T	0.82341	-0.0505	10	0.72032	D	0.01	.	9.8397	0.40991	0.0732:0.1407:0.7862:0.0	.	387	P22792	CPN2_HUMAN	M	387	ENSP00000319464:L387M;ENSP00000402232:L387M	ENSP00000319464:L387M	L	-	1	2	CPN2	195543968	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.559000	0.60796	2.782000	0.95742	0.655000	0.94253	CTG			0.592	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342856.2		NM_001080513		T	194062273	G	T	194062273	3	4	79	1	0	0	0	0	1	0	0	0	3812	991	35	3	482	3	CPN2	3	194062273	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	142197571	194062273	3960157	11	5585											
DSPP	1834	bcgsc.ca	37	chr4	88536953	88536953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgatagcagtgacagcagcGatagcagtgacagcagtgac	13	5	14	9	2	0	3	0	3	0	0	0	5	0	3	0	0	5	4	0	0	2	2	rs200486992		TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr4:88536953G>A	ENST00000282478.7	+	4	3172	c.3139G>A	c.(3139-3141)Gat>Aat	p.D1047N	DSPP_ENST00000399271.1_Missense_Mutation_p.D1047N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1047	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcgatagcagtga	0.527																																					p.D1047N													.	DSPP	174		0			c.G3139A												46	57	53					4																	88536953		1537	2773	4310	SO:0001583	missense	1834	exon5			AGCAGCGATAGCA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3139G>A	4.37:g.88536953G>A	ENSP00000282478:p.Asp1047Asn		85	0	0		63	0.11	7	NM_014208	0		0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	3.566	-0.088574	0.07097	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88201	-2.35;-2.35	1.51	-1.84	0.07809	.	.	.	.	.	T	0.78355	0.4270	L	0.34521	1.04	0.09310	N	1	B	0.26708	0.157	B	0.08055	0.003	T	0.61637	-0.7022	9	0.38643	T	0.18	.	5.2365	0.15448	0.5606:0.0:0.4394:0.0	.	1047	Q9NZW4	DSPP_HUMAN	N	1047	ENSP00000382213:D1047N;ENSP00000282478:D1047N	ENSP00000282478:D1047N	D	+	1	0	DSPP	88755977	0.032000	0.19561	0.079000	0.20413	0.006000	0.05464	0.451000	0.21779	-0.607000	0.05738	-0.791000	0.03333	GAT			0.527	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		A	88536953	G	A	88536953	3	1	79	1	0	0	0	0	1	0	0	0	4787	1058	37	1	3153	1	DSPP	4	88536953	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		88536953	102617323	12	5586											
SPOCK3	50859	broad.mit.edu	37	chr4	167656103	167656103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatggtcatcaccaccaTcatcatcatccccttcatct	10	12	2	17	0	8	0	7	0	1	0	9	0	9	0	4	1	0	0	4	1	0	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr4:167656103T>C	ENST00000357154.3	-	12	1417	c.1280A>G	c.(1279-1281)gAt>gGt	p.D427G	SPOCK3_ENST00000504953.1_Missense_Mutation_p.D424G|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D376G|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D384G|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D424G|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D331G|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D295G|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D427G|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D329G|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D427G|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D424G|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D307G|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D427G|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D329G	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	427	Asp-rich.				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)	p.D424G(3)		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)		atcaccaccatcatcatcatc	0.303																																					p.D427G													SPOCK3,NS,carcinoma,0,4	SPOCK3	90	4	3	Substitution - Missense(3)	endometrium(2)|kidney(1)	c.A1280G												171	161	164					4																	167656103		2203	4300	6503	SO:0001583	missense	50859	exon12			CCACCATCATCAT	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.1280A>G	4.37:g.167656103T>C	ENSP00000349677:p.Asp427Gly		435	0	0		273	0.01	4	NM_016950	0		0	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	T	4.562	0.104449	0.08731	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78707	-1.2;1.38;1.38;-1.2;-1.2;-1.2;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	5.1	0.69264	.	0.263407	0.31392	N	0.007738	T	0.68577	0.3016	N	0.14661	0.345	0.52501	D	0.999956	P;P;P;P;P;P;P	0.37864	0.476;0.61;0.476;0.476;0.476;0.61;0.476	B;B;B;B;B;B;B	0.43575	0.161;0.424;0.243;0.243;0.243;0.424;0.243	T	0.70414	-0.4878	10	0.38643	T	0.18	-32.2602	14.9101	0.70749	0.0:0.0:0.0:1.0	.	329;331;376;436;384;424;427	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	G	427;424;424;427;427;427;384;307;329;424;295;376;329;331	ENSP00000349677:D427G;ENSP00000350153:D424G;ENSP00000425570:D424G;ENSP00000420920:D427G;ENSP00000423421:D427G;ENSP00000423606:D427G;ENSP00000426716:D384G;ENSP00000444789:D307G;ENSP00000426318:D329G;ENSP00000425502:D424G;ENSP00000441396:D295G;ENSP00000411344:D376G;ENSP00000445430:D329G;ENSP00000438142:D331G	ENSP00000349677:D427G	D	-	2	0	SPOCK3	167892678	0.991000	0.36638	0.968000	0.41197	0.019000	0.09904	1.364000	0.34171	2.060000	0.61445	0.514000	0.50259	GAT			0.303	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000364091.1				C	167656103	T	C	167656103	3	2	79	1	0	0	0	0	1	0	0	0	15104	1435	50	4	34	4	SPOCK3	4	167656103	Missense_Mutation	SNP	T	TCGA-2G-AAM4-01A-11D-A435-10	79119150	167656103	23498173	13	5587											
KIAA0947	23379	mdanderson.org	37	chr5	5464352	5464352	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctcctttgccgcctctGcttgctcctctgatagctac	3	13	9	16	1	2	1	0	1	2	0	4	1	4	1	5	1	5	3	5	1	2	4			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr5:5464352G>T	ENST00000296564.7	+	13	5127	c.4905G>T	c.(4903-4905)ctG>ctT	p.L1635L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1635	Pro-rich.				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						TGCCGCCTCTGCTTGCTCCTC	0.512																																					p.L1635L													.	.			0			c.G4905T												114	120	118					5																	5464352		2014	4194	6208	SO:0001819	synonymous_variant	23379	exon13			GCCTCTGCTTGCT																												ENST00000296564.7:c.4905G>T	5.37:g.5464352G>T			59	0	0		43	0.07	3	NM_015325	54	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	CCDS47187.1																																																																																					0.512	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365575.1				T	5464352	G	T	5464352	2	4	79	1	0	0	0	0	0	0	0	1	8217	1306	46	2		2	KIAA0947	5	5464352	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		5464352	175450908	14	5588											
AMACR	23600	mdanderson.org	37	chr5	34007933	34007933	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacagacgccgcagcacGgcggctccccgcggctgctt	5	6	13	17	6	0	1	0	0	0	1	1	1	1	1	3	3	3	6	3	3	0	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr5:34007933G>T	ENST00000335606.6	-	1	280	c.192C>A	c.(190-192)gcC>gcA	p.A64A	AMACR_ENST00000512079.1_Silent_p.A64A|AMACR_ENST00000382068.3_Silent_p.A64A|AMACR_ENST00000502637.1_Silent_p.A64A|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Silent_p.A64A|AMACR_ENST00000441713.2_Silent_p.A64A|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382072.2_Silent_p.A64A|AMACR_ENST00000426255.2_Silent_p.A64A	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	64					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GCCGCAGCACGGCGGCTCCCC	0.741																																					p.A64A													.	.			0			c.C192A												4	5	4					5																	34007933		1620	3520	5140	SO:0001819	synonymous_variant	23600	exon1			CAGCACGGCGGCT	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.192C>A	5.37:g.34007933G>T			10	0	0		12	0.25	3	NM_203382	14	0	0	A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Silent	SNP	ENST00000335606.6	37	CCDS3902.1																																																																																					0.741	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207467.1		NM_014324		T	34007933	G	T	34007933	2	4	79	1	0	0	0	0	0	0	0	1	562	1103	39	1		1	AMACR	5	34007933	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	28543581	34007933	146907327	15	5589											
TCOF1	6949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	149754707	149754707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgacagagaggcactggCagccatgaatgcagctcagg	12	5	14	10	0	1	3	1	2	0	1	1	4	1	3	1	3	3	4	1	3	1	0			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr5:149754707C>T	ENST00000504761.2	+	10	1469	c.1469C>T	c.(1468-1470)gCa>gTa	p.A490V	TCOF1_ENST00000377797.3_Missense_Mutation_p.A490V|TCOF1_ENST00000451292.1_Missense_Mutation_p.A490V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A413V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A413V|TCOF1_ENST00000439160.2_Missense_Mutation_p.A490V|TCOF1_ENST00000394269.3_Missense_Mutation_p.A490V|TCOF1_ENST00000513346.1_Missense_Mutation_p.A490V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	490					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGCACTGGCAGCCATGAAT	0.592																																					p.A490V													.	.			0			c.C1469T												17	20	19					5																	149754707		2195	4298	6493	SO:0001583	missense	6949	exon10			CACTGGCAGCCAT		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1469C>T	5.37:g.149754707C>T	ENSP00000421655:p.Ala490Val		166	0	0		120	0.33	39	NM_001135243	142	0.37	53	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114333	0.37339	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	4.04	3.16	0.36331	Treacher Collins syndrome, treacle (1);	4.449660	0.00748	N	0.001047	T	0.54191	0.1843	L	0.51914	1.62	0.09310	N	1	B;B;B;B;B;P	0.36144	0.291;0.291;0.291;0.339;0.291;0.539	B;B;B;B;B;B	0.27076	0.046;0.046;0.046;0.076;0.046;0.046	T	0.39482	-0.9612	10	0.22706	T	0.39	-1.5504	7.9066	0.29765	0.0:0.8796:0.0:0.1204	.	490;413;490;490;413;490	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	V	490;490;413;413;490;490;490;490;490	ENSP00000400939:A490V;ENSP00000367028:A490V;ENSP00000409944:A413V;ENSP00000325223:A413V;ENSP00000406888:A490V;ENSP00000377811:A490V;ENSP00000390717:A490V;ENSP00000421655:A490V;ENSP00000427484:A490V	ENSP00000325223:A413V	A	+	2	0	TCOF1	149734900	0.000000	0.05858	0.004000	0.12327	0.077000	0.17291	-0.563000	0.05943	0.806000	0.34183	0.462000	0.41574	GCA			0.592	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000380552.1		NM_001008656		T	149754707	C	T	149754707	3	4	79	1	0	0	0	0	1	0	0	0	15731	710	25	2	1507	2	TCOF1	5	149754707	Missense_Mutation	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10	115746774	149754707	31160553	16	5590											
ADAM19	8728	mdanderson.org	37	chr5	156923970	156923970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttgtagcagtaggcctggCcgccctcacagggggtacca	7	7	14	13	2	1	0	1	0	0	0	1	0	1	0	4	4	2	5	4	4	3	4			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr5:156923970C>T	ENST00000517905.1	-	14	1570	c.1526G>A	c.(1525-1527)gGc>gAc	p.G509D	ADAM19_ENST00000394020.1_Missense_Mutation_p.G511D|ADAM19_ENST00000257527.4_Missense_Mutation_p.G509D|ADAM19_ENST00000430702.2_Missense_Mutation_p.G242D			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	509	Cys-rich.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTAGGCCTGGCCGCCCTCACA	0.642																																					p.G509D													.	.			0			c.G1526A												40	38	39					5																	156923970		2203	4300	6503	SO:0001583	missense	8728	exon14			GCCTGGCCGCCCT	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1526G>A	5.37:g.156923970C>T	ENSP00000428654:p.Gly509Asp		71	0	0		41	0.07	3	NM_033274	5	0	0	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.87|16.87	3.242305|3.242305	0.58995|0.58995	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000517374|ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	.|T;T;T;T	.|0.22134	.|1.97;1.97;1.97;1.97	5.49|5.49	4.61|4.61	0.57282|0.57282	.|ADAM, cysteine-rich (2);	.|0.094092	.|0.46758	.|D	.|0.000278	T|T	0.36552|0.36552	0.0971|0.0971	M|M	0.62266|0.62266	1.93|1.93	0.44424|0.44424	D|D	0.997346|0.997346	.|D;D;D	.|0.61697	.|0.987;0.99;0.99	.|P;P;P	.|0.61533	.|0.824;0.89;0.821	T|T	0.03068|0.03068	-1.1076|-1.1076	5|10	.|0.45353	.|T	.|0.12	.|.	9.994|9.994	0.41887|0.41887	0.0:0.8496:0.0:0.1504|0.0:0.8496:0.0:0.1504	.|.	.|509;509;242	.|Q9H013-2;Q9H013;E9PD32	.|.;ADA19_HUMAN;.	T|D	80|242;509;511;509	.|ENSP00000414088:G242D;ENSP00000257527:G509D;ENSP00000377588:G511D;ENSP00000428654:G509D	.|ENSP00000257527:G509D	A|G	-|-	1|2	0|0	ADAM19|ADAM19	156856548|156856548	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.675000|0.675000	0.39556|0.39556	1.692000|1.692000	0.37731|0.37731	2.572000|2.572000	0.86782|0.86782	0.557000|0.557000	0.71058|0.71058	GCC|GGC			0.642	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000373918.1		NM_033274		T	156923970	C	T	156923970	3	4	79	1	0	0	0	0	1	0	0	0	240	739	26	2	1270	2	ADAM19	5	156923970	Missense_Mutation	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10	7169263	156923970	23991290	17	5591											
SLU7	10569	mdanderson.org	37	chr5	159831548	159831548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcttttcctctttcaGtttttcttgatgcagctgaa	5	21	5	10	0	5	2	1	2	4	0	6	2	6	2	1	0	2	3	1	0	1	8			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr5:159831548G>T	ENST00000297151.4	-	15	1867	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	494					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tcctcttTCAGTTTTTCTTGA	0.373																																					p.L494M													.	.			0			c.C1480A												100	94	96					5																	159831548		2203	4298	6501	SO:0001583	missense	10569	exon15			CTTTCAGTTTTTC	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1480C>A	5.37:g.159831548G>T	ENSP00000297151:p.Leu494Met		45	0	0		40	0.08	3	NM_006425	213	0	0	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814844	0.32053	.	.	ENSG00000164609	ENST00000297151	T	0.30448	1.53	5.53	3.63	0.41609	.	0.756175	0.11899	N	0.518764	T	0.18800	0.0451	N	0.14661	0.345	0.38477	D	0.94762	B	0.10296	0.003	B	0.06405	0.002	T	0.04900	-1.0919	10	0.46703	T	0.11	-10.5975	8.594	0.33703	0.0837:0.0:0.7556:0.1607	.	494	O95391	SLU7_HUMAN	M	494	ENSP00000297151:L494M	ENSP00000297151:L494M	L	-	1	2	SLU7	159764126	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	1.187000	0.32090	0.702000	0.31825	0.591000	0.81541	CTG			0.373	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252673.1		NM_006425		T	159831548	G	T	159831548	3	4	79	1	0	0	0	0	1	0	0	0	14778	1020	36	3	288	3	SLU7	5	159831548	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	2907578	159831548	21083712	18	5592											
JARID2	3720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	15497278	15497278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgatgagatgcggtttGtcacgcagattcagcacatc	11	10	10	10	3	3	2	3	1	0	2	4	4	3	2	0	1	3	3	0	1	1	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr6:15497278G>A	ENST00000341776.2	+	7	2066	c.1822G>A	c.(1822-1824)Gtc>Atc	p.V608I	JARID2_ENST00000397311.3_Missense_Mutation_p.V436I|JARID2_ENST00000541660.1_Missense_Mutation_p.V570I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	608					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)				GATGCGGTTTGTCACGCAGAT	0.632																																					p.V608I													.	.			0			c.G1822A												38	32	34					6																	15497278		2202	4300	6502	SO:0001583	missense	3720	exon7			CGGTTTGTCACGC	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.1822G>A	6.37:g.15497278G>A	ENSP00000341280:p.Val608Ile		127	0	0		139	0.17	23	NM_004973	614	0.27	166	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826067	0.71143	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.43294	0.95;0.95;0.95	5.23	5.23	0.72850	ARID/BRIGHT DNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.36672	1.1	0.80722	D	1	B;D;P	0.69078	0.264;0.997;0.483	B;D;B	0.72338	0.052;0.977;0.057	T	0.32745	-0.9895	10	0.35671	T	0.21	-14.0708	18.7817	0.91934	0.0:0.0:1.0:0.0	.	570;472;608	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	I	472;608;436;570	ENSP00000341280:V608I;ENSP00000380478:V436I;ENSP00000444623:V570I	ENSP00000341280:V608I	V	+	1	0	JARID2	15605257	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	9.672000	0.98629	2.430000	0.82344	0.511000	0.50034	GTC			0.632	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039926.1		NM_004973		A	15497278	G	A	15497278	3	1	79	1	0	0	0	0	1	0	0	0	7960	1377	48	3	1848	3	JARID2	6	15497278	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		15497278	155617789	19	5593											
C6orf136	221545	mdanderson.org	37	chr6	30619174	30619174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgcaagcccggtggcGgcttgtggggctgcccgtcc	3	7	16	15	3	0	0	0	0	0	0	1	1	1	0	4	5	3	3	4	5	1	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr6:30619174G>T	ENST00000376473.5	+	4	854	c.695G>T	c.(694-696)cGg>cTg	p.R232L	C6orf136_ENST00000293604.6_Missense_Mutation_p.R413L|C6orf136_ENST00000528347.2_Missense_Mutation_p.R89L|C6orf136_ENST00000376471.4_Missense_Mutation_p.R98L|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	232						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GCCCGGTGGCGGCTTGTGGGG	0.537																																					p.R413L													C6orf136_ENST00000293604,caecum,carcinoma,0,2	C6orf136_ENST00000293604	0	2	0			c.G1238T												145	163	157					6																	30619174		2203	4300	6503	SO:0001583	missense	221545	exon4			GGTGGCGGCTTGT	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.695G>T	6.37:g.30619174G>T	ENSP00000365656:p.Arg232Leu		50	0	0		56	0.05	3	NM_001161376	194	0	0	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630321	0.67015	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801;ENST00000468785	.	.	.	5.2	4.31	0.51392	.	0.116858	0.56097	D	0.000024	T	0.70911	0.3278	M	0.76170	2.325	0.48762	D	0.999706	D;P;D	0.69078	0.984;0.537;0.997	P;B;D	0.69307	0.753;0.178;0.963	T	0.73588	-0.3935	9	0.72032	D	0.01	-22.9703	11.5306	0.50607	0.0866:0.0:0.9134:0.0	.	98;413;232	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	L	413;232;98;350;89;54;45;5	.	ENSP00000293604:R413L	R	+	2	0	C6orf136	30727153	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.610000	0.61155	2.699000	0.92147	0.655000	0.94253	CGG			0.537	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076457.4		NM_145029		T	30619174	G	T	30619174	3	4	79	1	0	0	0	0	1	0	0	0	2333	1116	39	1	1252	1	C6orf136	6	30619174	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	15121896	30619174	140495893	20	5594											
PPP2R5D	5528	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	42978951	42978951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggagctgccccaggacgTgtacaccatcaaggcactgg	9	6	13	13	2	1	0	1	0	0	0	2	2	1	2	3	4	3	3	3	4	2	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr6:42978951T>C	ENST00000485511.1	+	16	1915	c.1736T>C	c.(1735-1737)gTg>gCg	p.V579A	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.V571A|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.V547A|KLHDC3_ENST00000326974.4_5'Flank|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.V473A	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	579					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)			CCCCAGGACGTGTACACCATC	0.572																																					p.V579A	Melanoma(63;587 1613 29742 31770)												.	PPP2R5D	47		0			c.T1736C												100	98	99					6																	42978951		2203	4300	6503	SO:0001583	missense	5528	exon16			AGGACGTGTACAC	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.1736T>C	6.37:g.42978951T>C	ENSP00000417963:p.Val579Ala		176	0.0056818182	1		206	0.22	45	NM_006245	186	0.34	64	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597772	0.28445	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	T;T;T;T	0.42900	0.97;0.98;0.96;0.98	5.49	4.31	0.51392	.	0.125547	0.53938	D	0.000057	T	0.15089	0.0364	L	0.36672	1.1	0.47819	D	0.999525	B;B;B;B	0.09022	0.001;0.002;0.001;0.002	B;B;B;B	0.11329	0.002;0.006;0.001;0.006	T	0.06643	-1.0815	10	0.13853	T	0.58	-22.0579	12.3816	0.55309	0.0:0.0:0.1411:0.8589	.	473;561;579;547	Q14738-3;F5GYS1;Q14738;Q14738-2	.;.;2A5D_HUMAN;.	A	579;547;571;561;473	ENSP00000417963:V579A;ENSP00000377669:V547A;ENSP00000420550:V571A;ENSP00000420674:V473A	ENSP00000377669:V547A	V	+	2	0	PPP2R5D	43086929	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.988000	0.88194	0.905000	0.36596	0.533000	0.62120	GTG			0.572	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040573.3		NM_006245		C	42978951	T	C	42978951	3	2	79	1	0	0	0	0	1	0	0	0	12415	1696	59	4	1798	4	PPP2R5D	6	42978951	Missense_Mutation	SNP	T	TCGA-2G-AAM4-01A-11D-A435-10	12359777	42978951	128136116	21	5595											
FAM46A	55603	mdanderson.org	37	chr6	82461790	82461790	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgccgccgaagtcgccgccTagggggatgtaggggctgca	6	5	17	13	5	0	0	0	0	0	0	1	2	0	1	5	4	1	3	5	4	3	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr6:82461790T>G	ENST00000320172.6	-	2	383	c.69A>C	c.(67-69)ctA>ctC	p.L23L	FAM46A_ENST00000369754.3_Silent_p.L42L|FAM46A_ENST00000369756.3_Silent_p.L104L	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	23					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		agtcgccgccTAGGGGGATGT	0.692																																					p.L23L													.	.			0			c.A69C												4	5	4					6																	82461790		1435	3404	4839	SO:0001819	synonymous_variant	55603	exon2			GCCGCCTAGGGGG	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.69A>C	6.37:g.82461790T>G			37	0.027027027	1		50	0.1	5	NM_017633	0		0	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	37	CCDS34489.1																																																																																					0.692	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000041331.1				G	82461790	T	G	82461790	2	3	79	1	0	0	0	0	0	0	0	1	5578	1509	53	4		4	FAM46A	6	82461790	Silent	SNP	T	TCGA-2G-AAM4-01A-11D-A435-10	39482839	82461790	88653277	22	5596											
HBS1L	10767	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	135358728	135358728	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattcggtgttgtgcccttTatgattatggtctttaaatc	7	20	8	6	1	1	1	0	1	1	0	3	1	1	1	1	2	1	1	1	2	5	8			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr6:135358728T>C	ENST00000367837.5	-	4	637				HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.I289M|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000367824.4_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						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)		TTGTGCCCTTTATGATTATGG	0.333																																					p.I289M													.	HBS1L	75		0			c.A867G												40	34	36					6																	135358728		692	1591	2283	SO:0001627	intron_variant	10767	exon5			GCCCTTTATGATT	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.430+1982A>G	6.37:g.135358728T>C			72	0.0138888889	1		86	0.36	31	NM_001145207	24	0.29	7	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	0.697	-0.792329	0.02884	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.04	-0.415	0.12355	.	.	.	.	.	T	0.13457	0.0326	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.36601	-0.9741	7	0.49607	T	0.09	.	9.4837	0.38917	0.0:0.5683:0.0:0.4317	.	289	Q9Y450-2	.	M	289	.	ENSP00000356796:I289M	I	-	3	3	HBS1L	135400421	0.043000	0.20138	0.007000	0.13788	0.068000	0.16541	0.650000	0.24858	0.057000	0.16193	-0.256000	0.11100	ATA			0.333	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042339.2				C	135358728	T	C	135358728	1	2	79	0	1	0	0	0	0	0	0	0	7002	1744	61	4		4	HBS1L	6	135358728	Intron	SNP	T	TCGA-2G-AAM4-01A-11D-A435-10	52896938	135358728	35756339	23	5597											
LMOD2	442721	broad.mit.edu	37	chr7	123302963	123302963	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaggctgccaccaccTcctcctcctccccctcctcc	5	8	3	25	0	0	0	0	0	0	0	7	0	7	0	11	1	1	1	11	1	1	0			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr7:123302963T>A	ENST00000458573.2	+	2	1480	c.1323T>A	c.(1321-1323)ccT>ccA	p.P441P	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	441	Pro-rich.					cytoskeleton (GO:0005856)		p.P441P(1)									tgccaccacctcctcctcctc	0.572																																					p.P441P													LMOD2_ENST00000458573,NS,carcinoma,0,1	LMOD2	62	1	1	Substitution - coding silent(1)	endometrium(1)	c.T1323A												19	18	19					7																	123302963		1881	4064	5945	SO:0001819	synonymous_variant	442721	exon2			ACCACCTCCTCCT	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1323T>A	7.37:g.123302963T>A			81	0	0		101	0.04	4	NM_207163	0		0	A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	37	CCDS47693.1																																																																																					0.572	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348525.1				A	123302963	T	A	123302963	2	1	79	1	0	0	0	0	0	0	0	1	8872	1538	54	5		5	LMOD2	7	123302963	Silent	SNP	T	TCGA-2G-AAM4-01A-11D-A435-10		123302963	35835700	24	5598											
SSPO	23145	mdanderson.org	37	chr7	149522448	149522448	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccgacctctgggaccGcgttcagtgtctgcagggac	5	9	14	13	3	3	0	1	0	2	0	3	3	3	2	3	2	2	2	3	2	0	1	rs376457361	byFrequency	TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr7:149522448G>A	ENST00000378016.2	+	0	14078							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)			CTCTGGGACCGCGTTCAGTGT	0.637													G|||	2	0.000399361	0	0.0029	5008	,	,		18793	0		0	False		,,,				2504	0				p.R4692H													.	.			0			c.G14075A							G	HIS/ARG	1,4179		0,1,2089	72	79	77		14094	2.1	0.4	7		77	1,8423		0,1,4211	no	missense	SSPO	NM_198455.2	29	0,2,6300	AA,AG,GG		0.0119,0.0239,0.0159	probably-damaging	4692/5148	149522448	2,12602	2090	4212	6302			23145	exon99			GGGACCGCGTTCA	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.149522448G>A			43	0.023255814	1		46	0.07	3	NM_198455	1	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						A	149522448	G	A	149522448	1	1	79	0	1	0	0	0	0	0	0	0	15212	1074	38	1		1	SSPO	7	149522448	RNA	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	26219485	149522448	9616215	25	5599											
TSNARE1	203062	mdanderson.org	37	chr8	143399985	143399985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgttggtctcctgctGtgccgtgtgcctgggggccg	0	13	17	11	2	2	0	0	0	2	0	3	0	2	0	4	4	3	2	4	4	0	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr8:143399985G>T	ENST00000307180.3	-	7	1021	c.904C>A	c.(904-906)Cag>Aag	p.Q302K	TSNARE1_ENST00000524325.1_Missense_Mutation_p.Q302K|TSNARE1_ENST00000519651.1_Missense_Mutation_p.Q83K|TSNARE1_ENST00000520166.1_Missense_Mutation_p.Q302K|TSNARE1_ENST00000518928.1_5'UTR	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	302					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCTCCTGCTGTGCCGTGTGC	0.662																																					p.Q302K													.	.			0			c.C904A												78	72	74					8																	143399985		2203	4300	6503	SO:0001583	missense	203062	exon7			CCTGCTGTGCCGT			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.904C>A	8.37:g.143399985G>T	ENSP00000303437:p.Gln302Lys		32	0	0		26	0.12	3	NM_145003	32	0	0	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813801	0.32053	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.0	4.0	0.46444	t-SNARE (1);	0.000000	0.31268	U	0.007944	T	0.49440	0.1557	M	0.79258	2.445	0.24373	N	0.994825	D;B;B;B	0.57899	0.981;0.355;0.259;0.259	D;B;B;B	0.65010	0.931;0.158;0.112;0.112	T	0.38457	-0.9660	10	0.51188	T	0.08	.	7.6632	0.28415	0.1184:0.0:0.8816:0.0	.	302;83;302;302	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	K	302;302;302;83	ENSP00000428763:Q302K;ENSP00000303437:Q302K;ENSP00000427770:Q302K;ENSP00000429679:Q83K	ENSP00000303437:Q302K	Q	-	1	0	TSNARE1	143397892	0.986000	0.35501	0.283000	0.24790	0.061000	0.15899	2.098000	0.41757	1.763000	0.52060	0.655000	0.94253	CAG			0.662	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_145003		T	143399985	G	T	143399985	3	4	79	1	0	0	0	0	1	0	0	0	16654	1386	48	3	665	3	TSNARE1	8	143399985	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		143399985	2964037	26	5600											
EPPK1	83481	mdanderson.org	37	chr8	144946691	144946691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacctccagcagctcagctGcactcaccgccccgcccatg	7	5	7	22	2	2	0	2	0	0	0	3	0	3	0	7	0	4	4	7	0	0	0			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr8:144946691G>A	ENST00000525985.1	-	2	802	c.731C>T	c.(730-732)gCa>gTa	p.A244V				P58107	EPIPL_HUMAN	epiplakin 1	244						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)			CAGCTCAGCTGCACTCACCGC	0.682																																					p.A244V													.	.			0			c.C731T												13	16	15					8																	144946691		2164	4248	6412	SO:0001583	missense	83481	exon1			TCAGCTGCACTCA	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.731C>T	8.37:g.144946691G>A	ENSP00000436337:p.Ala244Val		23	0	0		18	0.11	2	NM_031308	2	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	G	0.381	-0.928430	0.02359	.	.	ENSG00000227184	ENST00000525985	T	0.69175	-0.38	4.53	-1.3	0.09259	.	.	.	.	.	T	0.42988	0.1227	N	0.20445	0.575	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.21621	-1.0240	9	0.15066	T	0.55	.	5.8411	0.18635	0.3888:0.1531:0.4581:0.0	.	244	E9PPU0	.	V	244	ENSP00000436337:A244V	ENSP00000436337:A244V	A	-	2	0	EPPK1	145018679	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.125000	0.15749	-0.118000	0.11851	0.407000	0.27541	GCA			0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382675.1		NM_031308		A	144946691	G	A	144946691	3	1	79	1	0	0	0	0	1	0	0	0	5197	1319	46	2	6535	2	EPPK1	8	144946691	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	1546706	144946691	1417331	27	5601											
CDKN2A	1029	mdanderson.org	37	chr9	21994303	21994303	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcacgcgcgccgaatccGgagggtcaccaagaacctgc	9	3	13	16	6	1	1	1	0	0	1	2	3	2	2	5	2	2	1	5	2	3	0			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr9:21994303G>T	ENST00000579755.1	-	1	320	c.28C>A	c.(28-30)Cgg>Agg	p.R10R	CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2A_ENST00000494262.1_Intron|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2A_ENST00000530628.2_Silent_p.R10R|RP11-149I2.4_ENST00000578935.1_RNA|CDKN2A_ENST00000361570.3_Silent_p.R51R|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2A_ENST00000470819.2_Intron|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2A_ENST00000498628.2_Intron|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(198)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCCGAATCCGGAGGGTCACC	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.R10R													.	.			199	Whole gene deletion(199)	haematopoietic_and_lymphoid_tissue(34)|central_nervous_system(31)|lung(31)|skin(16)|kidney(14)|oesophagus(11)|bone(10)|pancreas(10)|urinary_tract(7)|breast(6)|soft_tissue(5)|thyroid(4)|pleura(4)|large_intestine(3)|stomach(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(1)|vulva(1)|biliary_tract(1)|autonomic_ganglia(1)	c.C28A												11	12	12					9																	21994303		2174	4257	6431	SO:0001819	synonymous_variant	1029	exon1			GAATCCGGAGGGT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000579755.1:c.28C>A	9.37:g.21994303G>T			25	0	0		21	0.1	2	NM_058195	2	0	0	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	ENST00000579755.1	37	CCDS6511.2																																																																																					0.726	CDKN2A-004	KNOWN	NMD_exception|upstream_ATG|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000051918.5		NM_000077		T	21994303	G	T	21994303	2	4	79	1	0	0	0	0	0	0	0	1	3163	1115	39	1		1	CDKN2A	9	21994303	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		21994303	119219128	28	5602											
DCAF12	25853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	34089434	34089434	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcctttgccagtggttagTttcagattctcccctgctag	6	14	9	12	0	2	1	1	0	1	1	3	1	2	1	4	1	3	3	4	1	2	5			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr9:34089434T>G	ENST00000361264.4	-	8	1520	c.1179A>C	c.(1177-1179)aaA>aaC	p.K393N	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	393					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						CAGTGGTTAGTTTCAGATTCT	0.507																																					p.K393N													.	.			0			c.A1179C												126	107	113					9																	34089434		2203	4300	6503	SO:0001583	missense	25853	exon8			GGTTAGTTTCAGA	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.1179A>C	9.37:g.34089434T>G	ENSP00000355114:p.Lys393Asn		69	0	0		68	0.25	17	NM_015397	89	0.19	17	A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021282	0.75275	.	.	ENSG00000198876	ENST00000361264	T	0.63096	-0.02	5.21	2.79	0.32731	WD40 repeat-like-containing domain (1);	0.045142	0.85682	D	0.000000	T	0.58221	0.2107	L	0.55834	1.745	0.53005	D	0.999963	D	0.56746	0.977	P	0.52514	0.701	T	0.55636	-0.8110	10	0.15066	T	0.55	-16.4899	4.8656	0.13607	0.0:0.4777:0.0:0.5223	.	393	Q5T6F0	DCA12_HUMAN	N	393	ENSP00000355114:K393N	ENSP00000355114:K393N	K	-	3	2	DCAF12	34079434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.102000	0.41796	0.792000	0.33850	0.533000	0.62120	AAA			0.507	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052133.2		NM_015397		G	34089434	T	G	34089434	3	3	79	1	0	0	0	0	1	0	0	0	4265	1722	60	4	190	4	DCAF12	9	34089434	Missense_Mutation	SNP	T	TCGA-2G-AAM4-01A-11D-A435-10	12095131	34089434	107123997	29	5603											
C9orf114	51490	mdanderson.org	37	chr9	131589464	131589464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctacgctcagtgtgtagGgccgccctgagcaggggagg	6	6	19	10	2	1	1	1	1	0	0	1	2	1	2	2	5	2	4	2	5	2	2	rs561363504		TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr9:131589464G>T	ENST00000361256.5	-	4	255	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	72							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CAGTGTGTAGGGCCGCCCTGA	0.632																																					p.P72H													.	.			0			c.C215A												39	36	37					9																	131589464		2203	4300	6503	SO:0001583	missense	51490	exon4			GTGTAGGGCCGCC		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.215C>A	9.37:g.131589464G>T	ENSP00000354812:p.Pro72His		29	0	0		51	0.06	3	NM_016390	89	0	0	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	CCDS6913.1	.	.	.	.	.	.	.	.	.	.	G	0.563	-0.844542	0.02671	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.30448	1.53	5.37	2.45	0.29901	.	0.519631	0.22376	N	0.060863	T	0.14570	0.0352	N	0.20685	0.6	0.09310	N	0.999999	B;B	0.15141	0.012;0.003	B;B	0.09377	0.004;0.003	T	0.26883	-1.0090	10	0.14656	T	0.56	-0.012	4.1853	0.10395	0.0772:0.119:0.3926:0.4113	.	72;72	E7ESY7;Q5T280	.;CI114_HUMAN	H	72	ENSP00000354812:P72H	ENSP00000354812:P72H	P	-	2	0	C9orf114	130629285	0.106000	0.21978	0.951000	0.38953	0.257000	0.26127	0.697000	0.25556	0.230000	0.21059	0.555000	0.69702	CCC			0.632	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054500.1		NM_016390		T	131589464	G	T	131589464	3	4	79	1	0	0	0	0	1	0	0	0	2451	1232	43	3	951	3	C9orf114	9	131589464	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	97500030	131589464	9623967	30	5604											
COBRA1	25920	mdanderson.org	37	chr9	140157611	140157611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactgcacgctgcgggctgaGctgctcatgtccctgcacga	6	9	12	14	3	1	1	1	1	0	0	2	2	2	1	1	1	6	6	1	1	1	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr9:140157611G>T	ENST00000343053.4	+	5	1057	c.720G>T	c.(718-720)gaG>gaT	p.E240D		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	240					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)											TGCGGGCTGAGCTGCTCATGT	0.622																																					p.E240D													.	.			0			c.G720T												196	148	164					9																	140157611		2203	4300	6503	SO:0001583	missense	25920	exon5			GGCTGAGCTGCTC	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.720G>T	9.37:g.140157611G>T	ENSP00000339495:p.Glu240Asp		55	0	0		44	0.07	3	NM_015456	236	0	1	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037748	0.93630	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	M	0.64260	1.97	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79938	-0.1592	9	0.87932	D	0	-47.7876	16.6026	0.84820	0.0:0.0:1.0:0.0	.	240	Q8WX92	NELFB_HUMAN	D	240	.	ENSP00000339495:E240D	E	+	3	2	COBRA1	139277432	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.637000	0.74304	2.231000	0.72958	0.305000	0.20034	GAG			0.622	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254710.1		NM_015456		T	140157611	G	T	140157611	3	4	79	1	0	0	0	0	1	0	0	0	3657	962	34	2	738	2	COBRA1	9	140157611	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	8568147	140157611	1055820	31	5605											
PARD3	56288	broad.mit.edu;mdanderson.org	37	chr10	34408663	34408663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcgtcgccggccgtgcGttcggctggaagaggaaaat	7	8	15	11	6	1	1	0	0	1	1	3	3	1	3	2	4	2	2	2	4	3	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr10:34408663G>C	ENST00000374789.3	-	24	3880	c.3555C>G	c.(3553-3555)aaC>aaG	p.N1185K	PARD3_ENST00000374794.3_Missense_Mutation_p.N1073K|PARD3_ENST00000346874.4_Missense_Mutation_p.N1148K|PARD3_ENST00000374790.3_Missense_Mutation_p.N1125K|PARD3_ENST00000545693.1_Missense_Mutation_p.N1169K|PARD3_ENST00000374788.3_Missense_Mutation_p.N1182K|PARD3_ENST00000545260.1_Missense_Mutation_p.N1095K|PARD3_ENST00000350537.4_Missense_Mutation_p.N1139K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1185					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)				CCGGCCGTGCGTTCGGCTGGA	0.567																																					p.N1185K													.	PARD3	131		0			c.C3555G												22	21	21					10																	34408663		2203	4299	6502	SO:0001583	missense	56288	exon24			CCGTGCGTTCGGC	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.3555C>G	10.37:g.34408663G>C	ENSP00000363921:p.Asn1185Lys		76	0	0		50	0.06	3	NM_019619	80	0.06	5	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	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	9.943	1.218127	0.22373	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.14516	2.62;2.59;2.68;2.68;2.54;2.5;2.59;2.62	5.4	3.53	0.40419	.	0.241836	0.47093	D	0.000242	T	0.12689	0.0308	L	0.47716	1.5	0.80722	D	1	B;P;B;B;B;B;B;B	0.35272	0.432;0.493;0.432;0.432;0.432;0.432;0.432;0.306	B;B;B;B;B;B;B;B	0.34536	0.185;0.095;0.185;0.185;0.185;0.185;0.185;0.09	T	0.05305	-1.0893	10	0.42905	T	0.14	.	9.9905	0.41868	0.2182:0.0:0.7818:0.0	.	1073;1095;1102;1139;1169;1148;1182;1185	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	K	1169;1095;1185;1182;1148;1073;1139;1125	ENSP00000443147:N1169K;ENSP00000440857:N1095K;ENSP00000363921:N1185K;ENSP00000363920:N1182K;ENSP00000340591:N1148K;ENSP00000363926:N1073K;ENSP00000311986:N1139K;ENSP00000363922:N1125K	ENSP00000340591:N1148K	N	-	3	2	PARD3	34448669	0.543000	0.26434	0.102000	0.21198	0.042000	0.13812	2.506000	0.45433	0.653000	0.30826	0.650000	0.86243	AAC			0.567	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047527.1		NM_019619		C	34408663	G	C	34408663	3	2	79	1	0	0	0	0	1	0	0	0	11460	1136	40	5	523	5	PARD3	10	34408663	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		34408663	101126084	32	5606											
TYSND1	219743	broad.mit.edu	37	chr10	71905245	71905245	+	Frame_Shift_Del	DEL	A	A	-																															acgtgccgacaggtcactacAaggcggggtgccacagccac																										TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr10:71905245delA	ENST00000287078.6	-	1	1097	c.1098delT	c.(1096-1098)cttfs	p.L366fs	TYSND1_ENST00000335494.5_Frame_Shift_Del_p.L366fs|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	366	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						AGGTCACTACAAGGCGGGGTG	0.697																																					p.L366fs													.	TYSND1	20		0			c.1098delT												12	14	13					10																	71905245		2185	4279	6464	SO:0001589	frameshift_variant	219743	exon1			CACTACAAGGCGG	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1098delT	10.37:g.71905245delA	ENSP00000287078:p.Leu366fs		16	0	0		19	0.47	9	NM_001040273	27	0	0	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Frame_Shift_Del	DEL	ENST00000287078.6	37	CCDS31213.1																																																																																					0.697	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048483.1		NM_173555		-	71905245	A	-	71905245	7	5	79	1	0	1	0	1	0	0	0	0	16841	117	5	0	618	0	TYSND1	10	71905245	Frame_Shift_Del	DEL	A	TCGA-2G-AAM4-01A-11D-A435-10	37496582	71905245	63629502	33	5607											
CDHR1	92211	mdanderson.org	37	chr10	85965594	85965594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacagggaacgatggaGcctttgaaattaatgagaca	14	9	11	7	1	0	3	0	3	0	1	0	7	0	5	2	2	2	0	2	2	3	3			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr10:85965594G>T	ENST00000372117.3	+	10	977	c.874G>T	c.(874-876)Gcc>Tcc	p.A292S	CDHR1_ENST00000332904.3_Missense_Mutation_p.A292S|CDHR1_ENST00000440770.2_Missense_Mutation_p.A51S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	292	Cadherin 3. {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						GAACGATGGAGCCTTTGAAAT	0.567											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A292S													.	.			0			c.G874T												77	73	74					10																	85965594		2203	4300	6503	SO:0001583	missense	92211	exon10			GATGGAGCCTTTG	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.874G>T	10.37:g.85965594G>T	ENSP00000361189:p.Ala292Ser		54	0	0	1240	40	0.08	3	NM_001171971	5	0	0	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	9.074	0.997701	0.19043	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.50813	0.73;0.73;0.73	5.2	2.09	0.27110	Cadherin (4);Cadherin-like (1);	0.918383	0.09522	N	0.790838	T	0.24890	0.0604	N	0.16833	0.445	0.23959	N	0.996344	B;B;B	0.15141	0.006;0.012;0.005	B;B;B	0.19666	0.015;0.008;0.026	T	0.31223	-0.9951	10	0.07325	T	0.83	-9.6778	3.1836	0.06593	0.0902:0.1481:0.5004:0.2612	.	51;292;292	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	S	292;292;51	ENSP00000331063:A292S;ENSP00000361189:A292S;ENSP00000415980:A51S	ENSP00000331063:A292S	A	+	1	0	CDHR1	85955574	0.998000	0.40836	0.662000	0.29724	0.816000	0.46133	2.200000	0.42724	0.683000	0.31428	0.491000	0.48974	GCC			0.567	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049111.1		NM_033100		T	85965594	G	T	85965594	3	4	79	1	0	0	0	0	1	0	0	0	3120	971	34	2	912	2	CDHR1	10	85965594	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	14060349	85965594	49569153	34	5608											
TRPM5	29850	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	2436203	2436203	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccacaggaacaggtcccgCcaggggttctcgctcttctg	6	8	12	15	2	3	0	0	0	3	0	5	1	4	1	3	4	1	2	3	4	1	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:2436203C>T	ENST00000155858.6	-	10	1562	c.1554G>A	c.(1552-1554)tgG>tgA	p.W518*	TRPM5_ENST00000528453.1_Nonsense_Mutation_p.W518*|TRPM5_ENST00000533060.1_Nonsense_Mutation_p.W518*|TRPM5_ENST00000452833.1_Nonsense_Mutation_p.W520*	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)		ACAGGTCCCGCCAGGGGTTCT	0.706																																					p.W518X	NSCLC(1;49 61 17205 18850 43201)												.	.			0			c.G1554A												23	29	27					11																	2436203		2180	4282	6462	SO:0001587	stop_gained	29850	exon10			GTCCCGCCAGGGG	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.1554G>A	11.37:g.2436203C>T	ENSP00000155858:p.Trp518*		14	0	0		19	0.37	7	NM_014555	0		0		Nonsense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	37	6.621227	0.97714	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	.	.	.	3.68	2.71	0.32032	.	0.152115	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9428	11.742	0.51799	0.0:0.8194:0.1806:0.0	.	.	.	.	X	512;518;520;518;518;518	.	ENSP00000155858:W518X	W	-	3	0	TRPM5	2392779	1.000000	0.71417	0.802000	0.32245	0.947000	0.59692	5.500000	0.66943	0.844000	0.35094	0.491000	0.48974	TGG			0.706	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000027378.1		NM_014555		T	2436203	C	T	2436203	4	4	79	1	0	0	0	0	0	1	0	0	16613	740	26	2	2003	2	TRPM5	11	2436203	Nonsense_Mutation	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10		2436203	132570313	35	5609											
SMPD1	322	broad.mit.edu;mdanderson.org	37	chr11	6415755	6415755	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctctgcccgtgctgacaGccctgctctgtgccgccacc	3	9	10	19	2	2	1	0	1	2	0	3	1	2	1	5	0	5	3	5	0	0	0			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:6415755G>T	ENST00000609360.1	-	0	2642				SMPD1_ENST00000299397.3_Missense_Mutation_p.S561I|APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000342245.4_Missense_Mutation_p.S605I|SMPD1_ENST00000527275.1_Missense_Mutation_p.S604I|SMPD1_ENST00000356761.2_Missense_Mutation_p.S549I	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						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)		CGTGCTGACAGCCCTGCTCTG	0.642																																					p.S605I	GBM(147;1810 2556 5672 39622)												.	SMPD1	108		0			c.G1814T												55	58	57					11																	6415755		2201	4296	6497	SO:0001628	intergenic_variant	6609	exon6			CTGACAGCCCTGC	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			11.37:g.6415755G>T			66	0	0		38	0.08	3	NM_000543	63	0	0	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.44|13.44	2.237756|2.237756	0.39598|0.39598	.|.	.|.	ENSG00000166311|ENSG00000166311	ENST00000526280|ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	.|D;D;D;D	.|0.89485	.|-2.52;-2.52;-2.52;-2.52	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.205916	.|0.42682	.|D	.|0.000662	D|D	0.85575|0.85575	0.5728|0.5728	M|M	0.66939|0.66939	2.045|2.045	0.28701|0.28701	N|N	0.904077|0.904077	.|P;B;B	.|0.48016	.|0.904;0.138;0.205	.|B;B;B	.|0.38264	.|0.269;0.037;0.035	D|D	0.83680|0.83680	0.0171|0.0171	5|10	.|0.46703	.|T	.|0.11	-11.2931|-11.2931	10.179|10.179	0.42957|0.42957	0.0905:0.0:0.9095:0.0|0.0905:0.0:0.9095:0.0	.|.	.|604;561;603	.|E9PKS3;G3XAB5;P17405	.|.;.;ASM_HUMAN	S|I	291|561;549;605;604	.|ENSP00000299397:S561I;ENSP00000349203:S549I;ENSP00000340409:S605I;ENSP00000435350:S604I	.|ENSP00000299397:S561I	A|S	+|+	1|2	0|0	SMPD1|SMPD1	6372331|6372331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	3.873000|3.873000	0.56093|0.56093	2.537000|2.537000	0.85549|0.85549	0.462000|0.462000	0.41574|0.41574	GCC|AGC			0.642	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000471831.1		NM_001164		T	6415755	G	T	6415755	1	4	79	0	1	0	0	0	0	0	0	0	14827	971	34	2		2	SMPD1	11	6415755	IGR	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	3979552	6415755	128590761	36	5610											
ABCC8	6833	mdanderson.org	37	chr11	17452468	17452468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccacggagggcgagaaGtcggcctctttgaagaagct	11	6	15	9	3	1	3	0	1	1	2	2	5	1	4	2	4	1	1	2	4	4	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:17452468G>T	ENST00000389817.3	-	12	1778	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	ABCC8_ENST00000302539.4_Missense_Mutation_p.D570E|ABCC8_ENST00000528202.1_5'UTR			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	570	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	AGGGCGAGAAGTCGGCCTCTT	0.602																																					p.D570E													.	.			0			c.C1710A												105	92	96					11																	17452468		2200	4293	6493	SO:0001583	missense	6833	exon12			CGAGAAGTCGGCC	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.1710C>A	11.37:g.17452468G>T	ENSP00000374467:p.Asp570Glu		68	0	0		39	0.08	3	NM_000352	0		0	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	6.795	0.515693	0.12944	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.88818	-2.43;-2.43	5.46	4.55	0.56014	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.107640	0.64402	D	0.000009	T	0.79907	0.4527	N	0.24115	0.695	0.48762	D	0.999702	B;B	0.22851	0.076;0.076	B;B	0.29440	0.063;0.102	T	0.71310	-0.4631	10	0.02654	T	1	.	12.9169	0.58211	0.0797:0.0:0.9203:0.0	.	569;570	B7Z4N0;Q09428	.;ABCC8_HUMAN	E	570;570;584	ENSP00000374467:D570E;ENSP00000303960:D570E	ENSP00000303960:D570E	D	-	3	2	ABCC8	17409044	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	2.993000	0.49425	1.298000	0.44778	0.655000	0.94253	GAC			0.602	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000389093.1		NM_000352		T	17452468	G	T	17452468	3	4	79	1	0	0	0	0	1	0	0	0	58	1020	36	3	3147	3	ABCC8	11	17452468	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	11036713	17452468	117554048	37	5611											
PTPMT1	114971	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	47587435	47587435	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctccaccgtctttgctGagccacctctttgcctcggc	3	12	10	16	2	3	1	0	1	3	0	5	1	3	1	5	2	3	1	5	2	0	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:47587435G>T	ENST00000326674.9	+	2	196				PTPMT1_ENST00000534775.1_Silent_p.L87L|PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000426530.2_Silent_p.L87L|NDUFS3_ENST00000533507.1_Intron	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1						cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						CGTCTTTGCTGAGCCACCTCT	0.682																																					p.L87L													.	.			0			c.G261T												22	24	23					11																	47587435		2042	4179	6221	SO:0001627	intron_variant	114971	exon1			TTTGCTGAGCCAC	BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.175-23G>T	11.37:g.47587435G>T			139	0	0		129	0.46	59	NM_001143984	22	0.32	7	E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Silent	SNP	ENST00000326674.9	37	CCDS41643.1																																																																																					0.682	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391746.1		XM_374879		T	47587435	G	T	47587435	1	4	79	0	1	0	0	0	0	0	0	0	12799	1277	45	3		3	PTPMT1	11	47587435	Intron	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	30134967	47587435	87419081	38	5612											
FADS3	3995	mdanderson.org	37	chr11	61645045	61645045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaagttcaccagggtgaGcagcggcgggccgactgcaa	10	6	14	11	3	2	1	2	1	0	0	2	2	2	1	2	3	3	3	2	3	2	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:61645045G>A	ENST00000278829.2	-	7	975	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	FADS3_ENST00000525588.1_Missense_Mutation_p.L247F|FADS3_ENST00000540820.1_Missense_Mutation_p.L275F|FADS3_ENST00000527697.1_Missense_Mutation_p.L151F	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	275					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCAGGGTGAGCAGCGGCGGG	0.627																																					p.L275F													.	.			0			c.C823T												77	70	72					11																	61645045		2202	4299	6501	SO:0001583	missense	3995	exon7			GGGTGAGCAGCGG		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.823C>T	11.37:g.61645045G>A	ENSP00000278829:p.Leu275Phe		34	0	0		25	0.12	3	NM_021727	259	0	0	O60426	Missense_Mutation	SNP	ENST00000278829.2	37	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	18.95	3.730913	0.69074	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.65	4.73	0.59995	Fatty acid desaturase, type 1 (1);	.	.	.	.	D	0.83050	0.5170	L	0.59912	1.85	0.58432	D	0.999993	B;B	0.31989	0.35;0.163	P;B	0.50825	0.651;0.33	T	0.79752	-0.1671	9	0.28530	T	0.3	-16.2114	13.8075	0.63243	0.0:0.0:0.8454:0.1546	.	151;275	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	F	151;275;275;247;151;151	ENSP00000431533:L151F;ENSP00000278829:L275F;ENSP00000439308:L275F;ENSP00000432206:L247F;ENSP00000436890:L151F;ENSP00000434551:L151F	ENSP00000278829:L275F	L	-	1	0	FADS3	61401621	1.000000	0.71417	0.995000	0.50966	0.436000	0.31835	5.733000	0.68571	1.394000	0.46624	0.556000	0.70494	CTC			0.627	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394836.1				A	61645045	G	A	61645045	3	1	79	1	0	0	0	0	1	0	0	0	5377	971	34	2	538	2	FADS3	11	61645045	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	14057610	61645045	73361471	39	5613											
DPP3	10072	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	66276583	66276583	+	Frame_Shift_Del	DEL	C	C	-																															gcttctggaatacgaggcgtCagctgctggcctcatccgat																										TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:66276583delC	ENST00000360510.2	+	18	2140	c.2075delC	c.(2074-2076)tcafs	p.S692fs	DPP3_ENST00000541961.1_Frame_Shift_Del_p.S692fs|BBS1_ENST00000318312.7_5'Flank|DPP3_ENST00000530165.1_Frame_Shift_Del_p.S662fs|DPP3_ENST00000532677.1_Frame_Shift_Del_p.S711fs|DPP3_ENST00000531863.1_Frame_Shift_Del_p.S712fs|CTD-3074O7.11_ENST00000419755.3_5'UTR|BBS1_ENST00000537537.1_5'Flank|BBS1_ENST00000393994.2_5'Flank|DPP3_ENST00000453114.1_Frame_Shift_Del_p.S692fs|BBS1_ENST00000455748.2_5'Flank			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	692					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						TACGAGGCGTCAGCTGCTGGC	0.542																																					p.S692fs													.	DPP3	61		0			c.2074delT												80	78	79					11																	66276583		2200	4295	6495	SO:0001589	frameshift_variant	10072	exon18			AGGCGTCAGCTGC	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.2075delC	11.37:g.66276583delC	ENSP00000353701:p.Ser692fs		59	0	0		53	0.38	20	NM_130443	168	0	0	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Del	DEL	ENST00000360510.2	37	CCDS8141.1																																																																																					0.542	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393424.2				-	66276583	C	-	66276583	7	5	79	1	0	1	0	1	0	0	0	0	4733	838	29	0	2141	0	DPP3	11	66276583	Frame_Shift_Del	DEL	C	TCGA-2G-AAM4-01A-11D-A435-10	4631538	66276583	68729933	40	5614	11	2									
DPP3	10072	bcgsc.ca	37	chr11	66276584	66276584	+	Silent	SNP	A	A	T																															cttctggaatacgaggcgtcAgctgctggcctcatccgatc																										TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:66276584A>T	ENST00000360510.2	+	18	2141	c.2076A>T	c.(2074-2076)tcA>tcT	p.S692S	DPP3_ENST00000541961.1_Silent_p.S692S|BBS1_ENST00000318312.7_5'Flank|DPP3_ENST00000530165.1_Silent_p.S662S|DPP3_ENST00000532677.1_Silent_p.S711S|DPP3_ENST00000531863.1_Silent_p.S712S|CTD-3074O7.11_ENST00000419755.3_5'UTR|BBS1_ENST00000537537.1_5'Flank|BBS1_ENST00000393994.2_5'Flank|DPP3_ENST00000453114.1_Silent_p.S692S|BBS1_ENST00000455748.2_5'Flank			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	692					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						ACGAGGCGTCAGCTGCTGGCC	0.542																																					p.S692S													.	DPP3	61		0			c.A2076T												81	78	79					11																	66276584		2200	4295	6495	SO:0001819	synonymous_variant	10072	exon18			GGCGTCAGCTGCT	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.2076A>T	11.37:g.66276584A>T			59	0	0		53	0.4	21	NM_130443	173	0.03	6	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	CCDS8141.1																																																																																					0.542	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393424.2				T	66276584	A	T	66276584	2	4	79	1	0	0	0	0	0	0	0	1	4733	175	7	5		5	DPP3	11	66276584	Silent	SNP	A	TCGA-2G-AAM4-01A-11D-A435-10	1	66276584	68729932	41	5615	11	2									
CPT1A	1374	mdanderson.org	37	chr11	68530187	68530187	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcccctctcggaagagccGggtcatggaggcctcgtatg	6	8	13	14	3	2	1	1	0	1	1	5	3	3	3	5	4	1	1	5	4	2	1	rs576663980		TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:68530187G>T	ENST00000265641.5	-	15	1937	c.1783C>A	c.(1783-1785)Cgg>Agg	p.R595R	CPT1A_ENST00000539743.1_Silent_p.R595R|CPT1A_ENST00000376618.2_Silent_p.R595R|CPT1A_ENST00000540367.1_Silent_p.R595R|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	595					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)	CGGAAGAGCCGGGTCATGGAG	0.587																																					p.R595R													.	.			0			c.C1783A												69	61	64					11																	68530187		2200	4294	6494	SO:0001819	synonymous_variant	1374	exon15			AGAGCCGGGTCAT	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.1783C>A	11.37:g.68530187G>T			65	0	0		43	0.07	3	NM_001876	117	0	0	Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	CCDS8185.1																																																																																					0.587	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397457.2		NM_001876		T	68530187	G	T	68530187	2	4	79	1	0	0	0	0	0	0	0	1	3833	1115	39	1		1	CPT1A	11	68530187	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	2253603	68530187	66476329	42	5616											
ARHGAP32	9743	mdanderson.org	37	chr11	128910825	128910825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaagtgtactcacctGgttttggcactgagttggtc	10	13	11	7	0	1	2	1	2	0	0	2	2	1	2	1	3	1	4	1	3	4	4			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:128910825G>T	ENST00000310343.9	-	10	1000	c.1001C>A	c.(1000-1002)cCa>cAa	p.P334Q	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P260Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	334					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						GTACTCACCTGGTTTTGGCAC	0.393																																					p.P334Q													.	.			0			c.C1001A												83	73	76					11																	128910825		1566	3578	5144	SO:0001583	missense	9743	exon10			TCACCTGGTTTTG	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.1001C>A	11.37:g.128910825G>T	ENSP00000310561:p.Pro334Gln		59	0	0		48	0.06	3	NM_001142685	0		0	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302271	0.81136	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000356092	T;T	0.32515	1.45;1.45	5.22	5.22	0.72569	Src homology-3 domain (1);	.	.	.	.	T	0.44808	0.1311	L	0.42245	1.32	0.80722	D	1	P;D;D	0.60575	0.941;0.969;0.988	P;P;P	0.60345	0.459;0.73;0.873	T	0.38178	-0.9673	9	0.72032	D	0.01	.	15.6837	0.77393	0.0:0.0:1.0:0.0	.	268;334;152	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	Q	334;260;268;44	ENSP00000310561:P334Q;ENSP00000432468:P260Q	ENSP00000310561:P334Q	P	-	2	0	ARHGAP32	128416035	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.752000	0.85141	2.448000	0.82819	0.591000	0.81541	CCA			0.393	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386151.3		NM_014715		T	128910825	G	T	128910825	3	4	79	1	0	0	0	0	1	0	0	0	881	1348	47	3	5314	3	ARHGAP32	11	128910825	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	60380638	128910825	6095691	43	5617											
ADAMTS8	11095	mdanderson.org	37	chr11	130286846	130286846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatcttacctagttcatggGccagggtgtgggccgcctgg	7	10	14	10	1	2	0	1	0	1	0	2	0	2	0	4	4	1	1	4	4	3	3			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr11:130286846G>A	ENST00000257359.6	-	3	1791	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	362	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)	p.A391V(1)|p.A362V(1)		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)		TAGTTCATGGGCCAGGGTGTG	0.557																																					p.A362V													ADAMTS8_ENST00000414575,NS,carcinoma,0,3	ADAMTS8_ENST00000414575	0	3	2	Substitution - Missense(2)	lung(2)	c.C1085T												133	142	139					11																	130286846		2035	4181	6216	SO:0001583	missense	11095	exon3			TCATGGGCCAGGG	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.1085C>T	11.37:g.130286846G>A	ENSP00000257359:p.Ala362Val		87	0	0		49	0.06	3	NM_007037	7	0	0	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193946	0.94960	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.92149	-2.98	4.66	4.66	0.58398	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.97454	1.0030	10	0.87932	D	0	.	17.91	0.88931	0.0:0.0:1.0:0.0	.	362	Q9UP79	ATS8_HUMAN	V	362;391	ENSP00000257359:A362V	ENSP00000257359:A362V	A	-	2	0	ADAMTS8	129792056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.858000	0.99539	2.281000	0.76405	0.655000	0.94253	GCC			0.557	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385636.1		NM_007037		A	130286846	G	A	130286846	3	1	79	1	0	0	0	0	1	0	0	0	272	1203	42	2	1612	2	ADAMTS8	11	130286846	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	1376021	130286846	4719670	44	5618											
FOXM1	2305	broad.mit.edu	37	chr12	2973635	2973635	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaggtatgagctgacccGtggtagcagtggcttcatct	8	11	12	10	1	2	2	1	2	1	0	2	2	2	2	2	3	3	5	2	3	3	4			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr12:2973635G>T	ENST00000359843.3	-	8	1185	c.1117C>A	c.(1117-1119)Cgg>Agg	p.R373R	FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Silent_p.R373R|FOXM1_ENST00000361953.3_Silent_p.R358R	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	373					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)			GAGCTGACCCGTGGTAGCAGT	0.592																																					p.R373R													.	FOXM1	62		0			c.C1117A												72	71	72					12																	2973635		2203	4300	6503	SO:0001819	synonymous_variant	2305	exon8			TGACCCGTGGTAG	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.1117C>A	12.37:g.2973635G>T			127	0	0		286	0.02	5	NM_021953	669	0	0	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	9.411	1.080427	0.20309	.	.	ENSG00000111206	ENST00000535350	.	.	.	5.06	4.07	0.47477	.	.	.	.	.	T	0.68403	0.2997	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67417	-0.5676	4	.	.	.	.	13.6673	0.62403	0.0:0.0:0.7554:0.2446	.	.	.	.	K	98	.	.	T	-	2	0	FOXM1	2843896	1.000000	0.71417	0.970000	0.41538	0.824000	0.46624	3.930000	0.56522	2.342000	0.79632	0.561000	0.74099	ACG			0.592	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000398272.1		NM_021953		T	2973635	G	T	2973635	2	4	79	1	0	0	0	0	0	0	0	1	6031	1144	40	1		1	FOXM1	12	2973635	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		2973635	130878260	45	5619											
PRH1	5554	broad.mit.edu	37	chr12	11035035	11035035	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttgaggaggagggggAtggcctccctgttggggtgg	4	10	19	8	0	0	1	0	1	0	0	2	4	2	4	3	8	0	1	3	8	0	3			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr12:11035035A>G	ENST00000428168.2	-	4	337	c.300T>C	c.(298-300)caT>caC	p.H100H	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	100						extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GAGGAGGGGGATGGCCTCCCT	0.637																																					p.H100H													.	PRH1	17		0			c.T300C												54	31	39					12																	11035035		2181	4176	6357	SO:0001819	synonymous_variant	5554	exon4			AGGGGGATGGCCT			12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.300T>C	12.37:g.11035035A>G			423	0.0047281324	2		1080	0.01	10	NM_006250	19	0	0	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Silent	SNP	ENST00000428168.2	37																																																																																						0.637	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_006250		G	11035035	A	G	11035035	2	3	79	1	0	0	0	0	0	0	0	1	12502	330	12	4		4	PRH1	12	11035035	Silent	SNP	A	TCGA-2G-AAM4-01A-11D-A435-10	8061400	11035035	122816860	46	5620											
PRB1	5542	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	11506146	11506146	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggattgcctcctgctggAggtgggggaccttgaggatt	5	11	18	7	0	0	1	0	1	0	0	1	5	1	5	3	7	2	1	3	7	0	3			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr12:11506146A>G	ENST00000500254.2	-	4	529	c.492T>C	c.(490-492)ccT>ccC	p.P164P	PRB1_ENST00000545626.1_Silent_p.P144P|PRB1_ENST00000546254.1_Silent_p.P164P	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTCCTGCTGGAGGTGGGGGAC	0.637																																					p.P164P													.	PRB1	33		0			c.T492C												40	47	45					12																	11506146		2121	4242	6363	SO:0001819	synonymous_variant	5542	exon4			TGCTGGAGGTGGG		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.492T>C	12.37:g.11506146A>G			683	0.0014641288	1		1753	0.04	67	NM_199353	0		0	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																					0.637	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000402312.1		NM_005039		G	11506146	A	G	11506146	2	3	79	1	0	0	0	0	0	0	0	1	12462	291	11	4		4	PRB1	12	11506146	Silent	SNP	A	TCGA-2G-AAM4-01A-11D-A435-10	471111	11506146	122345749	47	5621											
WBP11	51729	broad.mit.edu	37	chr12	14947586	14947586	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtggaccagggggAgggccaggaggttttctgcc	7	6	21	7	0	1	0	0	0	1	0	1	5	1	5	3	9	1	1	3	9	0	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr12:14947586A>G	ENST00000261167.2	-	7	839	c.606T>C	c.(604-606)ccT>ccC	p.P202P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	202	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GACCAGGGGGAGGGCCAGGAG	0.512																																					p.P202P													WBP11,right_lower_lobe,carcinoma,0,2	WBP11	66	2	0			c.T606C												100	107	105					12																	14947586		2203	4300	6503	SO:0001819	synonymous_variant	51729	exon7			AGGGGGAGGGCCA	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.606T>C	12.37:g.14947586A>G			198	0.0050505051	1		481	0.01	7	NM_016312	931	0	1	Q96AY8	Silent	SNP	ENST00000261167.2	37	CCDS8666.1																																																																																					0.512	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400850.1		NM_016312		G	14947586	A	G	14947586	2	3	79	1	0	0	0	0	0	0	0	1	17282	291	11	4		4	WBP11	12	14947586	Silent	SNP	A	TCGA-2G-AAM4-01A-11D-A435-10	3441440	14947586	118904309	48	5622											
BRCA2	675	ucsc.edu;bcgsc.ca	37	chr13	32920964	32920964	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataaaataattgtttcctagGcacaataaaagatcgaagat	19	11	6	5	1	0	2	0	0	0	2	2	3	1	2	1	1	0	2	1	1	8	6			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr13:32920964G>T	ENST00000380152.3	+	13	7171	c.6938G>T	c.(6937-6939)gGc>gTc	p.G2313V	BRCA2_ENST00000544455.1_Splice_Site_p.G2313V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2313					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)		TGTTTCCTAGGCACAATAAAA	0.279			"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)																											p.G2313V	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	.	BRCA2	812		0			c.G6938T												75	76	76					13																	32920964		2202	4292	6494	SO:0001630	splice_region_variant	675	exon13	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)	TCCTAGGCACAAT	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.6938-1G>T	13.37:g.32920964G>T			65	0	0		35	0.11	4	NM_000059	3	0	0	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463893	0.63513	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.92048	-2.96;-2.96	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	D	0.95548	0.8553	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95315	0.8415	9	.	.	.	.	13.8597	0.63552	0.0:0.0:1.0:0.0	.	2313	P51587	BRCA2_HUMAN	V	2313	ENSP00000369497:G2313V;ENSP00000439902:G2313V	.	G	+	2	0	BRCA2	31818964	1.000000	0.71417	0.985000	0.45067	0.681000	0.39784	4.882000	0.63121	2.330000	0.79161	0.650000	0.86243	GGC			0.279	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046000.2		NM_000059	Missense_Mutation	T	32920964	G	T	32920964	5	4	79	1	0	0	0	0	0	0	1	0	1501	1217	42	2	6984	2	BRCA2	13	32920964	Splice_Site	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		32920964	82248914	49	5623											
ACIN1	22985	ucsc.edu	37	chr14	23548787	23548787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgatgctgaacgagaaCgtgaacgtgaccttgatctg	10	11	12	8	3	1	6	0	5	1	1	1	7	1	6	1	0	5	2	1	0	3	2	rs55838227|rs34870944|rs61741619	byFrequency	TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr14:23548787C>T	ENST00000262710.1	-	6	2258	c.1931G>A	c.(1930-1932)cGt>cAt	p.R644H	ACIN1_ENST00000605057.1_Missense_Mutation_p.R586H|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.R644H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R604H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	644	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S643_R644insHS(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGAACGAGAACGTGAACGTGA	0.488																																					p.R644H													.	ACIN1	147		1	Insertion - In frame(1)	upper_aerodigestive_tract(1)	c.G1931A												255	224	235					14																	23548787		2203	4300	6503	SO:0001583	missense	22985	exon6			CGAGAACGTGAAC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1931G>A	14.37:g.23548787C>T	ENSP00000262710:p.Arg644His		121	0	0		121	0.12	15	NM_001164814	77	0.13	10	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061864	0.76187	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.30448	2.29;1.53;2.29	5.46	5.46	0.80206	.	0.000000	0.41001	D	0.000979	T	0.42720	0.1215	L	0.27053	0.805	0.36352	D	0.86012	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.984;0.984	T	0.50808	-0.8784	10	0.59425	D	0.04	-1.7144	14.8141	0.70017	0.0:1.0:0.0:0.0	.	644;644;604	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	644;604;644	ENSP00000262710:R644H;ENSP00000405677:R604H;ENSP00000451328:R644H	ENSP00000262710:R644H	R	-	2	0	ACIN1	22618627	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	1.398000	0.34554	2.556000	0.86216	0.655000	0.94253	CGT			0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000071707.3		NM_014977		T	23548787	C	T	23548787	3	4	79	1	0	0	0	0	1	0	0	0	142	536	19	1	2297	1	ACIN1	14	23548787	Missense_Mutation	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10		23548787	83800753	50	5624											
CD276	80381	mdanderson.org	37	chr15	74000799	74000799	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatcaaacagagctgtGaggaggagaatgcaggtgag	16	5	16	4	0	1	5	1	2	0	3	1	8	1	6	0	3	3	2	0	3	3	0	rs556281946		TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr15:74000799G>T	ENST00000318443.5	+	7	1791	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	CD276_ENST00000564751.1_Nonsense_Mutation_p.E279*|CD276_ENST00000561213.1_Nonsense_Mutation_p.E497*|CD276_ENST00000537340.2_Nonsense_Mutation_p.E351*|CD276_ENST00000318424.5_Nonsense_Mutation_p.E279*	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	497					cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ACAGAGCTGTGAGGAGGAGAA	0.537																																					p.E497X													.	.			0			c.G1489T												138	105	116					15																	74000799		2198	4297	6495	SO:0001587	stop_gained	80381	exon7			AGCTGTGAGGAGG	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1489G>T	15.37:g.74000799G>T	ENSP00000320084:p.Glu497*		67	0	0		45	0.07	3	NM_001024736	141	0	0	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Nonsense_Mutation	SNP	ENST00000318443.5	37	CCDS32288.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.400484|4.400484	0.83120|0.83120	.|.	.|.	ENSG00000103855|ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000537340|ENST00000543481	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09338|.	T|.	0.73|.	-17.6058|-17.6058	12.4112|12.4112	0.55468|0.55468	0.082:0.0:0.918:0.0|0.082:0.0:0.918:0.0	.|.	.|.	.|.	.|.	X|L	279;497;351|141	.|.	ENSP00000320058:E279X|.	E|X	+|+	1|2	0|2	CD276|CD276	71787852|71787852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	3.716000|3.716000	0.54904|0.54904	2.292000|2.292000	0.77174|0.77174	0.557000|0.557000	0.71058|0.71058	GAG|TGA			0.537	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268979.1		NM_025240		T	74000799	G	T	74000799	4	4	79	1	0	0	0	0	0	1	0	0	2994	1291	45	3	1511	3	CD276	15	74000799	Nonsense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		74000799	28530593	51	5625											
C15orf40	123207	mdanderson.org	37	chr15	83677284	83677284	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtctcaaaaaaaaaaaaaAgagagcgagacctaccttat	20	8	6	7	1	1	2	1	0	1	2	2	4	1	2	2	0	2	0	2	0	9	3			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr15:83677284A>G	ENST00000513601.2	-	3	374				C15orf40_ENST00000538348.2_Intron|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000304177.5_Intron|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000565712.1_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						aaaaaaaaaaaGAGAGCGAGA	0.483																																					p.F128L													.	.			0			c.T382C												46	44	45					15																	83677284		2203	4300	6503	SO:0001627	intron_variant	123207	exon3			AAAAAAAGAGAGC	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.366+15T>C	15.37:g.83677284A>G			61	0	0		32	0.09	3	NM_001160113	1	0	0	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	ENST00000513601.2	37	CCDS32312.2																																																																																					0.483	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000360737.2		NM_144597		G	83677284	A	G	83677284	1	3	79	0	1	0	0	0	0	0	0	0	1796	72	3	4		4	C15orf40	15	83677284	Intron	SNP	A	TCGA-2G-AAM4-01A-11D-A435-10	9676485	83677284	18854108	52	5626											
TMEM8A	58986	mdanderson.org	37	chr16	422655	422655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagaggcagggccccaGcatgttccacatgcccctgc	9	5	12	15	0	0	1	0	0	0	1	1	1	1	1	5	3	3	4	5	3	1	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr16:422655G>T	ENST00000431232.2	-	12	2135	c.1975C>A	c.(1975-1977)Ctg>Atg	p.L659M	MRPL28_ENST00000429738.1_5'Flank|MRPL28_ENST00000199706.8_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.L466M|MRPL28_ENST00000389675.2_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	659					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CAGGGCCCCAGCATGTTCCAC	0.617																																					p.L659M													.	.			0			c.C1975A												114	100	105					16																	422655		2202	4300	6502	SO:0001583	missense	58986	exon12			GCCCCAGCATGTT	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1975C>A	16.37:g.422655G>T	ENSP00000401338:p.Leu659Met		40	0	0		41	0.07	3	NM_021259	201	0	0	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	9.756	1.168789	0.21621	.	.	ENSG00000129925	ENST00000431232;ENST00000250930;ENST00000448854	T;T;T	0.47869	0.83;0.83;0.83	3.97	0.143	0.14820	.	0.361485	0.25935	N	0.027348	T	0.29749	0.0743	L	0.28649	0.875	0.37095	D	0.89963	B	0.33919	0.432	B	0.33121	0.158	T	0.12372	-1.0550	10	0.23302	T	0.38	-4.7789	8.9161	0.35583	0.1289:0.0:0.5653:0.3058	.	659	Q9HCN3	TMM8A_HUMAN	M	659;466;207	ENSP00000401338:L659M;ENSP00000250930:L466M;ENSP00000401931:L207M	ENSP00000250930:L466M	L	-	1	2	TMEM8A	362656	0.579000	0.26725	0.221000	0.23827	0.942000	0.58702	-0.167000	0.09940	-0.170000	0.10816	-0.538000	0.04264	CTG			0.617	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000109257.2		NM_021259		T	422655	G	T	422655	3	4	79	1	0	0	0	0	1	0	0	0	16237	962	34	2	348	2	TMEM8A	16	422655	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		422655	89932098	53	5627											
CCDC78	124093	mdanderson.org	37	chr16	776359	776359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcctgtggtggctgcGtgctccataggctagggaac	5	9	17	10	1	0	0	0	0	0	0	1	1	1	1	2	6	3	3	2	6	3	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr16:776359G>T	ENST00000293889.6	-	1	114	c.9C>A	c.(7-9)caC>caA	p.H3Q	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	3					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				TGGTGGCTGCGTGCTCCATAG	0.677																																					p.H3Q													.	.			0			c.C9A												12	10	10					16																	776359		1768	3274	5042	SO:0001583	missense	124093	exon1			GGCTGCGTGCTCC	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.9C>A	16.37:g.776359G>T	ENSP00000293889:p.His3Gln		30	0	0		20	0.15	3	NM_001031737	5	0	0	B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445644	0.25987	.	.	ENSG00000162004	ENST00000293889	T	0.42513	0.97	2.88	-5.75	0.02384	.	5.049580	0.00541	N	0.000232	T	0.27205	0.0667	L	0.44542	1.39	0.09310	N	1	P;P;P;P;P	0.43287	0.704;0.704;0.802;0.704;0.586	B;B;B;B;B	0.35073	0.195;0.195;0.195;0.195;0.092	T	0.32771	-0.9894	10	0.62326	D	0.03	18.2515	0.8347	0.01137	0.1962:0.1385:0.2188:0.4465	.	3;3;3;3;3	A2IDD5-4;A2IDD5-6;A2IDD5-3;A2IDD5-5;A2IDD5	.;.;.;.;CCD78_HUMAN	Q	3	ENSP00000293889:H3Q	ENSP00000293889:H3Q	H	-	3	2	CCDC78	716360	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-2.104000	0.01340	-1.955000	0.01023	-0.658000	0.03865	CAC			0.677	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241665.3		NM_173476		T	776359	G	T	776359	3	4	79	1	0	0	0	0	1	0	0	0	2854	1136	40	1	1363	1	CCDC78	16	776359	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	353704	776359	89578394	54	5628											
TPSG1	8912	mdanderson.org	37	chr16	1273502	1273502	+	IGR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgcaccctccgcaggcGgaggctggcctgccatggcc	5	5	14	17	3	0	0	0	0	0	0	1	1	1	1	5	5	2	3	5	5	0	0			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr16:1273502G>T	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.R56S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTCCGCAGGCGGAGGCTGGCC	0.726																																					p.R56S													TPSG1,colon,carcinoma,+1,1	TPSG1	1	1	0			c.C166A												6	7	7					16																	1273502		2031	4085	6116	SO:0001628	intergenic_variant	25823	exon3			GCAGGCGGAGGCT	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1273502G>T			28	0.0357142857	1		26	0.12	3	NM_012467	19	0	0	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	12.74	2.028603	0.35797	.	.	ENSG00000116176	ENST00000234798	D	0.87334	-2.24	2.76	-0.867	0.10655	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.77478	0.4136	L	0.43152	1.355	0.28931	N	0.891584	P	0.42203	0.773	B	0.37267	0.245	T	0.67745	-0.5591	9	0.40728	T	0.16	.	4.4904	0.11810	0.2059:0.0:0.6158:0.1784	.	56	Q9NRR2	TRYG1_HUMAN	S	56	ENSP00000234798:R56S	ENSP00000234798:R56S	R	-	1	0	TPSG1	1213503	0.001000	0.12720	0.246000	0.24233	0.700000	0.40528	1.083000	0.30815	-0.314000	0.08716	0.486000	0.48141	CGC			0.726	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421601.1		NM_001005407		T	1273502	G	T	1273502	1	4	79	0	1	0	0	0	0	0	0	0	16450	1116	39	1		1	TPSG1	16	1273502	IGR	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	497143	1273502	89081251	55	5629											
TELO2	9894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1544544	1544544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgcctggaggagctgtggGccagcttcttcctggagggc	4	8	17	12	1	1	0	0	0	1	0	2	3	2	3	4	5	2	2	4	5	0	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr16:1544544G>T	ENST00000262319.6	+	2	541	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	88					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGAGCTGTGGGCCAGCTTCTT	0.677											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A88S													.	.			0			c.G262T												35	38	37					16																	1544544		2199	4300	6499	SO:0001583	missense	9894	exon2			CTGTGGGCCAGCT	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.262G>T	16.37:g.1544544G>T	ENSP00000262319:p.Ala88Ser		47	0	0	596	50	0.52	26	NM_016111	86	0.48	41	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343908	0.24339	.	.	ENSG00000100726	ENST00000262319	D	0.83914	-1.78	4.69	2.61	0.31194	.	0.449907	0.22047	N	0.065364	T	0.76428	0.3986	L	0.57536	1.79	0.23254	N	0.998037	B	0.31026	0.304	B	0.24269	0.052	T	0.59648	-0.7415	10	0.21014	T	0.42	-0.9163	12.4264	0.55548	0.0:0.3253:0.6747:0.0	.	88	Q9Y4R8	TELO2_HUMAN	S	88	ENSP00000262319:A88S	ENSP00000262319:A88S	A	+	1	0	TELO2	1484545	1.000000	0.71417	0.483000	0.27378	0.948000	0.59901	3.538000	0.53597	0.352000	0.24053	0.561000	0.74099	GCC			0.677	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103602.2		NM_016111		T	1544544	G	T	1544544	3	4	79	1	0	0	0	0	1	0	0	0	15780	1203	42	2	264	2	TELO2	16	1544544	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	271042	1544544	88810209	56	5630											
ABCC6	368	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	16297454	16297454	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcctttccttttaaatgCtattgccttgttgtgcctga	5	17	8	11	1	0	1	0	1	0	0	1	1	1	1	5	0	3	2	5	0	3	7			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr16:16297454C>G	ENST00000205557.7	-	8	840	c.811G>C	c.(811-813)Gca>Cca	p.A271P	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	271					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)	CTTTTAAATGCTATTGCCTTG	0.562																																					p.A271P													.	.			0			c.G811C												47	46	47					16																	16297454		2197	4300	6497	SO:0001583	missense	368	exon8			TAAATGCTATTGC	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.811G>C	16.37:g.16297454C>G	ENSP00000205557:p.Ala271Pro		207	0	0		141	0.4	57	NM_001171	0		0	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	4.997	0.185151	0.09495	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.87256	-2.23;-2.23	2.54	1.56	0.23342	.	3.997670	0.01114	N	0.005646	T	0.80675	0.4668	L	0.29908	0.895	0.09310	N	0.999991	B;B	0.30281	0.002;0.275	B;B	0.28139	0.002;0.086	T	0.65582	-0.6133	10	0.35671	T	0.21	.	6.345	0.21345	0.0:0.8423:0.0:0.1577	.	283;271	F5GWQ0;O95255	.;MRP6_HUMAN	P	271;271;283	ENSP00000205557:A271P;ENSP00000405002:A271P	ENSP00000205557:A271P	A	-	1	0	ABCC6	16204955	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	0.378000	0.20569	0.175000	0.19841	-1.206000	0.01644	GCA			0.562	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252232.2				G	16297454	C	G	16297454	3	3	79	1	0	0	0	0	1	0	0	0	57	797	28	5	3796	5	ABCC6	16	16297454	Missense_Mutation	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10	14752910	16297454	74057299	57	5631											
IL21R	50615	broad.mit.edu;mdanderson.org	37	chr16	27456040	27456040	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctttcagacccagtcagagGgtaggtgtgaagctgggatg	9	10	15	7	0	3	3	2	1	1	2	3	4	3	4	1	3	1	2	1	3	2	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr16:27456040G>T	ENST00000337929.3	+	6	1158	c.685G>T	c.(685-687)Gag>Tag	p.E229*	IL21R_ENST00000564583.1_3'UTR|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Splice_Site_p.E229*|IL21R_ENST00000564089.1_Splice_Site_p.E229*|IL21R_ENST00000395755.1_Splice_Site_p.E229*	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	229					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCAGTCAGAGGGTAGGTGTGA	0.577			T	BCL6	NHL																																p.E251X				Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	IL21R	95		0			c.G751T												56	53	54					16																	27456040		2197	4300	6497	SO:0001630	splice_region_variant	50615	exon7			TCAGAGGGTAGGT	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.685+1G>T	16.37:g.27456040G>T			71	0	0		48	0.08	4	NM_181079	2	0	0	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Splice_Site	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370516	0.82573	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	.	.	.	4.3	4.3	0.51218	.	0.780759	0.11260	N	0.582668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-13.6871	12.2813	0.54765	0.0:0.0:1.0:0.0	.	.	.	.	X	229	.	ENSP00000338010:E229X	E	+	1	0	IL21R	27363541	1.000000	0.71417	0.424000	0.26647	0.644000	0.38419	3.591000	0.53986	1.936000	0.56123	0.561000	0.74099	GAG			0.577	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254578.2		NM_181078	Nonsense_Mutation	T	27456040	G	T	27456040	5	4	79	1	0	0	0	0	0	0	1	0	7686	1246	43	3	703	3	IL21R	16	27456040	Splice_Site	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	11158586	27456040	62898713	58	5632											
CHST6	4166	mdanderson.org	37	chr16	75513051	75513051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtgccgttggtgcccaGcacgatgccgttgtcacgcg	5	8	13	15	6	1	0	1	0	0	0	1	1	1	0	4	1	4	3	4	1	0	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr16:75513051G>A	ENST00000332272.4	-	3	855	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	CHST6_ENST00000390664.2_Silent_p.L226L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	226					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)|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)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTGGTGCCCAGCACGATGCCG	0.711																																					p.L226L													.	.			0			c.C676T												20	22	21					16																	75513051		2193	4273	6466	SO:0001819	synonymous_variant	4166	exon3			TGCCCAGCACGAT	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.676C>T	16.37:g.75513051G>A			37	0	0		31	0.1	3	NM_021615	0		0	D3DUK3	Silent	SNP	ENST00000332272.4	37	CCDS10918.1																																																																																					0.711	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435478.1		NM_021615		A	75513051	G	A	75513051	2	1	79	1	0	0	0	0	0	0	0	1	3410	962	34	2		2	CHST6	16	75513051	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	48057011	75513051	14841702	59	5633											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		236	0.0677966102	16		276	0.08	21	NM_145301	21	0.43	9	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	79	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10		15457087	65738123	60	5634											
NBR1	4077	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	41345207	41345207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccttcagccaggaacCaagtttatcaaacactggag	14	8	7	12	0	3	0	3	0	0	0	3	2	3	2	3	2	3	1	3	2	4	3			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr17:41345207C>T	ENST00000422280.1	+	11	1629	c.1170C>T	c.(1168-1170)acC>acT	p.T390T	NBR1_ENST00000341165.6_Silent_p.T390T|NBR1_ENST00000590996.1_Silent_p.T390T|NBR1_ENST00000589872.1_Silent_p.T390T|NBR1_ENST00000542611.1_Silent_p.T369T|NBR1_ENST00000389312.4_Silent_p.T390T	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	390					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)		AGCCAGGAACCAAGTTTATCA	0.443																																					p.T390T													.	NBR1	55		0			c.C1170T												77	71	73					17																	41345207		1902	4126	6028	SO:0001819	synonymous_variant	4077	exon11			AGGAACCAAGTTT	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.1170C>T	17.37:g.41345207C>T			98	0.0102040816	1		122	0.27	33	NM_031862	54	0.26	14	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Silent	SNP	ENST00000422280.1	37	CCDS45694.1																																																																																					0.443	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000453461.1		NM_005899		T	41345207	C	T	41345207	2	4	79	1	0	0	0	0	0	0	0	1	10217	581	21	3		3	NBR1	17	41345207	Silent	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10	25888120	41345207	39850003	61	5635											
NPC1	4864	mdanderson.org	37	chr18	21136215	21136215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcaggttacctggtgcaGtatctgtatgtcaagcggag	10	10	13	8	1	2	0	1	0	1	0	2	1	2	1	1	3	4	5	1	3	4	3			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr18:21136215G>T	ENST00000269228.5	-	8	1872	c.1318C>A	c.(1318-1320)Ctg>Atg	p.L440M	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.L190M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	440					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCTGGTGCAGTATCTGTATG	0.493																																					p.L440M													.	.			0			c.C1318A												117	109	112					18																	21136215		2203	4300	6503	SO:0001583	missense	4864	exon8			GGTGCAGTATCTG	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1318C>A	18.37:g.21136215G>T	ENSP00000269228:p.Leu440Met		55	0	0		46	0.07	3	NM_000271	32	0	0	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947459	0.53186	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.94417	-3.42;-3.42	5.53	-3.92	0.04155	.	0.000000	0.85682	D	0.000000	D	0.96349	0.8809	M	0.83774	2.66	0.27264	N	0.958553	D;D	0.65815	0.978;0.995	P;D	0.66847	0.881;0.947	D	0.93580	0.6912	10	0.72032	D	0.01	-23.6309	15.768	0.78143	0.3537:0.0:0.6463:0.0	.	451;440	Q59GR1;O15118	.;NPC1_HUMAN	M	440;190;285	ENSP00000269228:L440M;ENSP00000408606:L190M	ENSP00000269228:L440M	L	-	1	2	NPC1	19390213	0.949000	0.32298	0.046000	0.18839	0.818000	0.46254	0.595000	0.24029	-0.623000	0.05618	-0.238000	0.12139	CTG			0.493	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254823.2		NM_000271		T	21136215	G	T	21136215	3	4	79	1	0	0	0	0	1	0	0	0	10587	1020	36	3	2590	3	NPC1	18	21136215	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		21136215	56941033	62	5636											
C19orf26	255057	mdanderson.org	37	chr19	1236043	1236043	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcgtcagggctactgtGgcagtggtggtggtggtggt	4	11	20	6	2	1	0	1	0	0	0	2	1	1	0	0	7	1	2	0	7	1	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr19:1236043G>T	ENST00000382477.2	-	2	313	c.39C>A	c.(37-39)gcC>gcA	p.A13A	C19orf26_ENST00000215376.6_Silent_p.A13A|AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000590083.1_Silent_p.A19A			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	13	Thr-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTACTgtggcagtggtgg	0.677										HNSCC(14;0.022)																											p.A19A													.	.			0			c.C57A												36	25	29					19																	1236043		2197	4293	6490	SO:0001819	synonymous_variant	255057	exon2			TACTGTGGCAGTG	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.39C>A	19.37:g.1236043G>T			30	0	0		40	0.08	3	NM_152769	18	0	0	O43385	Silent	SNP	ENST00000382477.2	37																																																																																						0.677	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_152769		T	1236043	G	T	1236043	2	4	79	1	0	0	0	0	0	0	0	1	1918	1335	47	3		3	C19orf26	19	1236043	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		1236043	57892940	63	5637											
SIRT6	51548	mdanderson.org	37	chr19	4174679	4174679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggcagggctggtgggccGctcccgtttggggctggcgg	1	7	23	10	3	0	0	0	0	0	0	1	0	1	0	2	9	0	5	2	9	0	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr19:4174679G>A	ENST00000337491.2	-	8	1067	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	SIRT6_ENST00000594279.1_3'UTR|SIRT6_ENST00000381935.3_Missense_Mutation_p.R263W|SIRT6_ENST00000305232.6_Missense_Mutation_p.R308W|SIRT6_ENST00000601488.1_3'UTR	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	335	Pro-rich.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTGGGCCGCTCCCGTTTG	0.687																																					p.R335W													.	.			0			c.C1003T												3	4	4					19																	4174679		1994	3945	5939	SO:0001583	missense	51548	exon8			TGGGCCGCTCCCG	AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6", "sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.1003C>T	19.37:g.4174679G>A	ENSP00000337332:p.Arg335Trp		35	0	0		32	0.09	3	NM_016539	115	0	0	B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	37	CCDS12122.1	.	.	.	.	.	.	.	.	.	.	G	9.471	1.095527	0.20471	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.33438	1.84;1.83;1.41	3.75	-0.0758	0.13725	.	1.589830	0.03922	N	0.283739	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.26224	-1.0109	10	0.72032	D	0.01	-0.6034	0.3181	0.00298	0.261:0.1696:0.3268:0.2425	.	308;335	Q8N6T7-2;Q8N6T7	.;SIRT6_HUMAN	W	335;308;263	ENSP00000337332:R335W;ENSP00000305310:R308W;ENSP00000371360:R263W	ENSP00000305310:R308W	R	-	1	2	SIRT6	4125679	0.000000	0.05858	0.002000	0.10522	0.623000	0.37688	-0.194000	0.09559	-0.146000	0.11274	0.462000	0.41574	CGG			0.687	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457931.2				A	4174679	G	A	4174679	3	1	79	1	0	0	0	0	1	0	0	0	14365	1086	38	1	68	1	SIRT6	19	4174679	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	2938636	4174679	54954304	64	5638											
FCGBP	8857	mdanderson.org	37	chr19	40421236	40421236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaggcagcgctgcgttctgGccgcatgagccgaccagcag	7	5	15	14	4	1	1	0	1	1	0	1	2	1	1	3	2	4	6	3	2	0	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr19:40421236G>A	ENST00000221347.6	-	5	2692	c.2685C>T	c.(2683-2685)ggC>ggT	p.G895G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	895	VWFD 2. {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)			CTGCGTTCTGGCCGCATGAGC	0.687																																					p.G895G													.	.			0			c.C2685T												28	28	28					19																	40421236		2202	4298	6500	SO:0001819	synonymous_variant	8857	exon5			GTTCTGGCCGCAT	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.2685C>T	19.37:g.40421236G>A			51	0	0		44	0.07	3	NM_003890	0		0	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																					0.687	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462507.1		NM_003890		A	40421236	G	A	40421236	2	1	79	1	0	0	0	0	0	0	0	1	5791	1190	42	2		2	FCGBP	19	40421236	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	36246557	40421236	18707747	65	5639											
RTN2	6253	mdanderson.org	37	chr19	45997951	45997951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggcgctcggatggaGgcgcggtgtcaggatcaccc	7	5	17	12	4	2	1	2	0	0	1	3	4	2	4	2	6	0	1	2	6	0	0			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr19:45997951G>T	ENST00000245923.4	-	3	627	c.392C>A	c.(391-393)cCt>cAt	p.P131H	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.P131H|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000430715.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	131					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)		CTCGGATGGAGGCGCGGTGTC	0.682																																					p.P131H													.	.			0			c.C392A												48	55	52					19																	45997951		2203	4300	6503	SO:0001583	missense	6253	exon3			GATGGAGGCGCGG	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.392C>A	19.37:g.45997951G>T	ENSP00000245923:p.Pro131His		56	0	0		45	0.07	3	NM_206900	49	0	0	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186883	0.38609	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.56611	0.59;0.45	5.58	5.58	0.84498	.	0.413227	0.20865	N	0.084266	T	0.57784	0.2077	L	0.29908	0.895	0.42120	D	0.991421	D;D	0.76494	0.997;0.999	P;P	0.61328	0.789;0.887	T	0.53592	-0.8417	10	0.33141	T	0.24	-3.3425	15.0563	0.71915	0.0:0.0:1.0:0.0	.	131;131	O75298-2;O75298	.;RTN2_HUMAN	H	131	ENSP00000345127:P131H;ENSP00000245923:P131H	ENSP00000245923:P131H	P	-	2	0	RTN2	50689791	0.995000	0.38212	0.126000	0.21872	0.018000	0.09664	2.093000	0.41710	2.630000	0.89119	0.563000	0.77884	CCT			0.682	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000459574.1		NM_005619		T	45997951	G	T	45997951	3	4	79	1	0	0	0	0	1	0	0	0	13749	1000	35	3	1281	3	RTN2	19	45997951	Missense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	5576715	45997951	13131032	66	5640											
THBD	7056	mdanderson.org	37	chr20	23028534	23028534	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcttgcgcaggtggcaGaggagcgccaaaagcgccac	9	6	14	12	3	1	1	0	0	1	1	1	2	1	2	2	3	4	3	2	3	2	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr20:23028534G>T	ENST00000377103.2	-	1	1844	c.1608C>A	c.(1606-1608)ctC>ctA	p.L536L		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	536					blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GCAGGTGGCAGAGGAGCGCCA	0.662																																					p.L536L													.	.			0			c.C1608A												21	23	23					20																	23028534		2198	4297	6495	SO:0001819	synonymous_variant	7056	exon1			GTGGCAGAGGAGC		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1608C>A	20.37:g.23028534G>T			74	0	0		46	0.07	3	NM_000361	1	0	0	Q8IV29|Q9UC32	Silent	SNP	ENST00000377103.2	37	CCDS13148.1																																																																																					0.662	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078307.2				T	23028534	G	T	23028534	2	4	79	1	0	0	0	0	0	0	0	1	15875	929	33	3		3	THBD	20	23028534	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		23028534	39996986	67	5641											
ERGIC3	51614	mdanderson.org	37	chr20	34136278	34136278	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgctgtaacacctgtGaagatgtgcgggaggcatat	11	9	14	7	1	0	2	0	1	0	1	0	3	0	3	1	3	3	3	1	3	3	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr20:34136278G>T	ENST00000348547.2	+	6	555	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	ERGIC3_ENST00000357394.4_Nonsense_Mutation_p.E160*|ERGIC3_ENST00000279052.6_Nonsense_Mutation_p.E160*|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000447986.1_Nonsense_Mutation_p.E160*	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	160					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TAACACCTGTGAAGATGTGCG	0.562																																					p.E160X													.	.			0			c.G478T												63	61	62					20																	34136278		2203	4300	6503	SO:0001587	stop_gained	51614	exon6			ACCTGTGAAGATG	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"serologically defined breast cancer antigen 84", "chromosome 20 open reading frame 47"	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.478G>T	20.37:g.34136278G>T	ENSP00000341358:p.Glu160*		75	0	0		85	0.06	5	NM_015966	731	0	0	Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Nonsense_Mutation	SNP	ENST00000348547.2	37	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.6|24.6	4.551403|4.551403	0.86127|0.86127	.|.	.|.	ENSG00000125991|ENSG00000125991	ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052;ENST00000355563|ENST00000413587	.|.	.|.	.|.	4.67|4.67	3.71|3.71	0.42584|0.42584	.|.	0.200385|.	0.50627|.	D|.	0.000106|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.51188|.	T|.	0.08|.	-2.7703|-2.7703	12.4911|12.4911	0.55901|0.55901	0.0821:0.0:0.9178:0.0|0.0821:0.0:0.9178:0.0	.|.	.|.	.|.	.|.	X|L	160;160;160;160;23|161	.|.	ENSP00000279052:E160X|.	E|X	+|+	1|2	0|2	ERGIC3|ERGIC3	33599692|33599692	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.738000|9.738000	0.98835|0.98835	0.942000|0.942000	0.37525|0.37525	0.298000|0.298000	0.19748|0.19748	GAA|TGA			0.562	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078880.2		NM_015966		T	34136278	G	T	34136278	4	4	79	1	0	0	0	0	0	1	0	0	5232	1291	45	3	500	3	ERGIC3	20	34136278	Nonsense_Mutation	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10	11107744	34136278	28889242	68	5642											
SGSM1	129049	mdanderson.org	37	chr22	25255730	25255730	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtccctgcaccagacGgctgacgtcatgaccttgaa	9	9	9	14	2	1	4	1	3	0	1	2	4	2	4	4	1	2	2	4	1	2	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr22:25255730G>T	ENST00000400359.4	+	9	856	c.849G>T	c.(847-849)acG>acT	p.T283T	SGSM1_ENST00000400358.4_Silent_p.T283T	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	283						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGCACCAGACGGCTGACGTCA	0.592																																					p.T283T													.	.			0			c.G849T												98	100	99					22																	25255730		2074	4211	6285	SO:0001819	synonymous_variant	129049	exon9			CCAGACGGCTGAC	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.849G>T	22.37:g.25255730G>T			64	0	0		34	0.09	3	NM_001098497	7	0	0	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	CCDS46674.1																																																																																					0.592	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000320282.1		XM_059318		T	25255730	G	T	25255730	2	4	79	1	0	0	0	0	0	0	0	1	14245	1103	39	1		1	SGSM1	22	25255730	Silent	SNP	G	TCGA-2G-AAM4-01A-11D-A435-10		25255730	26048836	69	5643											
MN1	4330	broad.mit.edu	37	chr22	28195494	28195494	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggctgctgctgagggggTggcggggcctgctggggagg	2	6	26	7	1	0	1	0	1	0	0	0	2	0	2	1	10	3	4	1	10	0	0			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr22:28195494T>G	ENST00000302326.4	-	1	1992	c.1038A>C	c.(1036-1038)ccA>ccC	p.P346P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	346					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgagggggtggcggGGCCT	0.682			T	ETV6	"AML, meningioma"																																p.P346P				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	MN1	122		0			c.A1038C												1	2	2					22																	28195494		1109	2670	3779	SO:0001819	synonymous_variant	4330	exon1			AGGGGGTGGCGGG	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.1038A>C	22.37:g.28195494T>G			45	0.2222222222	10		63	0.33	21	NM_002430	10	0	0	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																					0.682	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320737.1		NM_002430		G	28195494	T	G	28195494	2	3	79	1	0	0	0	0	0	0	0	1	9689	1683	59	4		4	MN1	22	28195494	Silent	SNP	T	TCGA-2G-AAM4-01A-11D-A435-10	2939764	28195494	23109072	70	5644											
CSDC2	27254	mdanderson.org	37	chr22	41970829	41970829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagttccaggccgtggAggtggtgctcactcagctgg	7	8	15	11	1	2	1	2	0	0	1	3	2	3	2	3	5	2	3	3	5	1	1			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chr22:41970829A>G	ENST00000306149.7	+	4	936	c.392A>G	c.(391-393)gAg>gGg	p.E131G		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	131	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						CAGGCCGTGGAGGTGGTGCTC	0.657																																					p.E131G	NSCLC(181;294 2110 12667 14717 31090)												.	.			0			c.A392G												85	59	68					22																	41970829		2201	4300	6501	SO:0001583	missense	27254	exon4			CCGTGGAGGTGGT	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.392A>G	22.37:g.41970829A>G	ENSP00000302485:p.Glu131Gly		48	0	0		46	0.07	3	NM_014460	1	0	0	Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	a	31	5.060206	0.93846	.	.	ENSG00000172346	ENST00000306149	.	.	.	5.02	5.02	0.67125	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.055850	0.64402	D	0.000001	T	0.69178	0.3082	L	0.55103	1.725	0.80722	D	1	D	0.60575	0.988	P	0.62014	0.897	T	0.72421	-0.4299	9	0.66056	D	0.02	.	14.9178	0.70812	1.0:0.0:0.0:0.0	.	131	Q9Y534	CSDC2_HUMAN	G	131	.	ENSP00000302485:E131G	E	+	2	0	CSDC2	40300775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.126000	0.94411	2.105000	0.64084	0.529000	0.55759	GAG			0.657	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320689.1		NM_014460		G	41970829	A	G	41970829	3	3	79	1	0	0	0	0	1	0	0	0	3930	304	11	4	402	4	CSDC2	22	41970829	Missense_Mutation	SNP	A	TCGA-2G-AAM4-01A-11D-A435-10	13775335	41970829	9333737	71	5645											
ARHGAP36	158763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	130215791	130215791	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgcaggacgaagatggtatCgatacacagcctctctgagc	11	7	11	12	3	1	2	0	1	1	1	3	5	1	3	2	2	3	2	2	2	3	2			TCGA-2G-AAM4-01A-11D-A435-10	TCGA-2G-AAM4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68fd725c-8226-46cb-bfd7-1e3bbded6197	4acd74c8-3572-47f4-972c-b9f81e248e33	g.chrX:130215791C>G	ENST00000276211.5	+	2	497	c.152C>G	c.(151-153)tCg>tGg	p.S51W	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S39W	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	51					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						AAGATGGTATCGATACACAGC	0.527																																					p.S51W													.	.			0			c.C152G												143	118	127					X																	130215791		2203	4300	6503	SO:0001583	missense	158763	exon2			TGGTATCGATACA		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.152C>G	X.37:g.130215791C>G	ENSP00000276211:p.Ser51Trp		66	0	0		98	0.42	41	NM_144967	4	0.5	2	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208787	0.58343	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.13538	2.58;2.59;2.61	4.16	4.16	0.48862	.	0.000000	0.39020	N	0.001499	T	0.21761	0.0524	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.01464	-1.1348	10	0.72032	D	0.01	.	10.8111	0.46547	0.0:1.0:0.0:0.0	.	20;39;51	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	W	51;39;3;20	ENSP00000276211:S51W;ENSP00000359960:S39W;ENSP00000408515:S20W	ENSP00000276211:S51W	S	+	2	0	ARHGAP36	130043472	0.998000	0.40836	0.995000	0.50966	0.697000	0.40408	4.534000	0.60622	2.315000	0.78130	0.544000	0.68410	TCG			0.527	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355073.1		NM_144967		G	130215791	C	G	130215791	3	3	79	1	0	0	0	0	1	0	0	0	883	893	31	5	154	5	ARHGAP36	23	130215791	Missense_Mutation	SNP	C	TCGA-2G-AAM4-01A-11D-A435-10		130215791	25054769	72	5646											
SCNN1D	6339	broad.mit.edu	37	chr1	1222192	1222192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagctgctggacgagtttgCcagggagaacattgactccc	9	8	14	10	1	0	2	0	1	0	1	1	6	1	4	2	3	4	3	2	3	1	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:1222192C>T	ENST00000338555.2	+	5	1608	c.464C>T	c.(463-465)gCc>gTc	p.A155V	SCNN1D_ENST00000379116.5_Missense_Mutation_p.A319V|SCNN1D_ENST00000400928.3_Missense_Mutation_p.A155V|SCNN1D_ENST00000325425.8_Missense_Mutation_p.A221V			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	155					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-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;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GACGAGTTTGCCAGGGAGAAC	0.677																																					p.A319V													.	SCNN1D	60		0			c.C956T												40	45	44					1																	1222192		2198	4290	6488	SO:0001583	missense	6339	exon8			AGTTTGCCAGGGA	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.464C>T	1.37:g.1222192C>T	ENSP00000339504:p.Ala155Val		279	0	0		183	0.02	4	NM_001130413	6	0	0	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	C	14.81	2.645092	0.47258	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.38	2.47	0.30058	.	0.426470	0.19069	U	0.123551	T	0.63510	0.2517	L	0.43152	1.355	0.09310	N	1	D;D	0.62365	0.975;0.991	P;P	0.58660	0.843;0.837	T	0.51702	-0.8672	10	0.44086	T	0.13	.	7.6135	0.28144	0.0:0.7866:0.0:0.2134	.	155;319	P51172;A6NNF7	SCNND_HUMAN;.	V	186;319;155;221;155	ENSP00000368411:A319V;ENSP00000339504:A155V;ENSP00000321594:A221V;ENSP00000383717:A155V	ENSP00000321594:A221V	A	+	2	0	SCNN1D	1212055	0.000000	0.05858	0.033000	0.17914	0.020000	0.10135	0.063000	0.14410	0.823000	0.34589	0.313000	0.20887	GCC			0.677	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000005802.2		NM_002978		T	1222192	C	T	1222192	3	4	80	1	0	0	0	0	1	0	0	0	13952	739	26	2	680	2	SCNN1D	1	1222192	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10		1222192	248028429	1	5647											
SSU72	29101	mdanderson.org	37	chr1	1477477	1477477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacggtgtgcagaaaggtgCggccactcttctcctcgaac	9	8	12	12	3	2	2	0	0	2	2	4	3	2	2	2	3	3	1	2	3	2	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:1477477C>T	ENST00000291386.3	-	5	865	c.554G>A	c.(553-555)cGc>cAc	p.R185H	TMEM240_ENST00000425828.1_5'Flank|TMEM240_ENST00000378733.4_5'Flank	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	185					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)	p.R185H(1)		large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGAAAGGTGCGGCCACTCTT	0.567																																					p.R185H													SSU72,caecum,carcinoma,0,1	SSU72	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.G554A												112	78	90					1																	1477477		2201	4296	6497	SO:0001583	missense	29101	exon5			AAGGTGCGGCCAC	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.554G>A	1.37:g.1477477C>T	ENSP00000291386:p.Arg185His		55	0	0		42	0.07	3	NM_014188	508	0	0	Q9BZS6|Q9H933	Missense_Mutation	SNP	ENST00000291386.3	37	CCDS32.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235158	0.39498	.	.	ENSG00000160075	ENST00000291386;ENST00000378726	T	0.44881	0.91	5.07	2.14	0.27477	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	L	0.45228	1.405	0.42507	D	0.992957	D	0.60575	0.988	P	0.45946	0.498	T	0.05869	-1.0859	10	0.39692	T	0.17	-2.7791	6.4779	0.22047	0.1465:0.6944:0.0:0.1591	.	185	Q9NP77	SSU72_HUMAN	H	185;102	ENSP00000291386:R185H	ENSP00000291386:R185H	R	-	2	0	SSU72	1467340	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	3.724000	0.54962	0.170000	0.19704	-0.181000	0.13052	CGC			0.567	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001366.1		NM_014188		T	1477477	C	T	1477477	3	4	80	1	0	0	0	0	1	0	0	0	15225	768	27	1	34	1	SSU72	1	1477477	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	255285	1477477	247773144	2	5648											
COL8A2	1296	mdanderson.org	37	chr1	36564848	36564848	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccctcgtattcctggcTccccccgaagccccggctgc	3	8	10	20	3	0	0	0	0	0	0	4	1	3	0	8	3	2	3	8	3	2	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:36564848T>C	ENST00000397799.1	-	4	658	c.434A>G	c.(433-435)gAg>gGg	p.E145G	COL8A2_ENST00000481785.1_Missense_Mutation_p.E80G|COL8A2_ENST00000303143.4_Missense_Mutation_p.E145G			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	145	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)				TATTCCTGGCTCCCCCCGAAG	0.721																																					p.E145G													.	.			0			c.A434G												2	3	3					1																	36564848		1758	3563	5321	SO:0001583	missense	1296	exon2			CCTGGCTCCCCCC	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.434A>G	1.37:g.36564848T>C	ENSP00000380901:p.Glu145Gly		45	0.0222222222	1		23	0.13	3	NM_005202	5	0	0	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192272	0.58017	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.93712	-3.27;-3.27;-3.27	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.95051	0.8187	10	0.35671	T	0.21	.	13.4789	0.61324	0.0:0.0:0.0:1.0	.	145	P25067	CO8A2_HUMAN	G	145;145;80;145	ENSP00000305913:E145G;ENSP00000380901:E145G;ENSP00000436433:E80G	ENSP00000305913:E145G	E	-	2	0	COL8A2	36337435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.117000	0.71577	1.856000	0.53863	0.418000	0.28097	GAG			0.721	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313674.1		NM_005202		C	36564848	T	C	36564848	3	2	80	1	0	0	0	0	1	0	0	0	3708	1551	54	4	1681	4	COL8A2	1	36564848	Missense_Mutation	SNP	T	TCGA-2X-A9D5-01A-11D-A435-10	35087371	36564848	212685773	3	5649											
KIAA0467	23334	mdanderson.org	37	chr1	43908679	43908679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgccccagctccgtacttGgtcctgtgcccagacctcct	4	9	8	20	2	0	1	0	0	0	1	3	1	3	1	8	1	3	2	8	1	1	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:43908679G>T	ENST00000562955.1	+	58	8170	c.8170G>T	c.(8170-8172)Ggt>Tgt	p.G2724C	SZT2_ENST00000372442.1_Missense_Mutation_p.G1882C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2781					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCCGTACTTGGTCCTGTGCC	0.607																																					p.G2724C													.	.			0			c.G8170T												58	61	60					1																	43908679		2203	4300	6503	SO:0001583	missense	23334	exon58			GTACTTGGTCCTG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8170G>T	1.37:g.43908679G>T	ENSP00000457168:p.Gly2724Cys		103	0	0		57	0.05	3	NM_015284	60	0	0	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415006	0.42817	.	.	ENSG00000198198	ENST00000372442	.	.	.	4.94	3.97	0.46021	.	0.078057	0.56097	D	0.000037	T	0.39517	0.1081	N	0.22421	0.69	0.29303	N	0.868551	P	0.48764	0.915	P	0.53062	0.717	T	0.29549	-1.0008	9	0.59425	D	0.04	.	9.9341	0.41541	0.1793:0.0:0.8207:0.0	.	2724	Q5T011-5	.	C	1882	.	ENSP00000361519:G1882C	G	+	1	0	SZT2	43681266	1.000000	0.71417	0.947000	0.38551	0.990000	0.78478	4.517000	0.60503	1.339000	0.45563	0.561000	0.74099	GGT			0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019517.3		NM_015284		T	43908679	G	T	43908679	3	4	80	1	0	0	0	0	1	0	0	0	8193	1348	47	3	5810	3	KIAA0467	1	43908679	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	7343831	43908679	205341942	4	5650											
ABCA4	24	mdanderson.org	37	chr1	94528293	94528293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccacgggatcagctctggGaccagaatcccaatacctga	11	8	9	13	1	2	2	1	1	1	1	4	4	4	4	4	2	2	1	4	2	3	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:94528293G>T	ENST00000370225.3	-	13	1863	c.1777C>A	c.(1777-1779)Ccc>Acc	p.P593T	ABCA4_ENST00000535735.1_Missense_Mutation_p.P593T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	593					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)		TCAGCTCTGGGACCAGAATCC	0.567																																					p.P593T													.	.			0			c.C1777A												49	49	49					1																	94528293		2203	4300	6503	SO:0001583	missense	24	exon13			CTCTGGGACCAGA	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.1777C>A	1.37:g.94528293G>T	ENSP00000359245:p.Pro593Thr		47	0	0		27	0.11	3	NM_000350	0		0	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904757	0.72868	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.98329	-4.87;-4.87	4.95	3.04	0.35103	.	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	M	0.85710	2.77	0.58432	D	0.999998	D;D	0.89917	1.0;0.971	D;P	0.87578	0.998;0.856	D	0.99257	1.0889	10	0.87932	D	0	.	11.7179	0.51663	0.0:0.1342:0.726:0.1398	.	593;593	F5H6E5;P78363	.;ABCA4_HUMAN	T	593	ENSP00000359245:P593T;ENSP00000437682:P593T	ENSP00000359245:P593T	P	-	1	0	ABCA4	94300881	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	7.691000	0.84191	0.654000	0.30846	0.561000	0.74099	CCC			0.567	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000029320.1		NM_000350		T	94528293	G	T	94528293	3	4	80	1	0	0	0	0	1	0	0	0	34	1174	41	3	5196	3	ABCA4	1	94528293	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	50619614	94528293	154722328	5	5651											
OVGP1	5016	bcgsc.ca	37	chr1	111957533	111957533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcacaggggtcacagaCtgatgacccacaggggtcag	11	6	13	11	0	3	4	3	3	0	1	3	4	3	4	1	4	0	0	1	4	0	0	rs112145355		TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					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)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q													.	OVGP1	177		0			c.G1590A												59	57	58					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	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.1590G>A	1.37:g.111957533C>T			94	0.0106382979	1		107	0.16	17	NM_002557	4	0	0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																					0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032461.1		NM_002557		T	111957533	C	T	111957533	2	4	80	1	0	0	0	0	0	0	0	1	11342	564	20	3		3	OVGP1	1	111957533	Silent	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	17429240	111957533	137293088	6	5652											
VPS45	11311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	150053547	150053547	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctgctgaaaatgatgaaTtctatgctaatgtaggtggt	12	15	10	4	0	2	3	0	3	2	0	2	3	2	3	0	2	2	3	0	2	7	5			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:150053547T>G	ENST00000369130.3	+	8	1357	c.811T>G	c.(811-813)Ttc>Gtc	p.F271V	VPS45_ENST00000369128.5_Missense_Mutation_p.F166V|VPS45_ENST00000535106.1_Missense_Mutation_p.F202V	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	271					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|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)			AAATGATGAATTCTATGCTAA	0.363																																					p.F271V													VPS45,NS,carcinoma,-2,1	VPS45	-2	1	0			c.T811G												90	92	92					1																	150053547		2203	4300	6503	SO:0001583	missense	11311	exon8			GATGAATTCTATG	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"vacuolar protein sorting 45A (yeast homolog)", "vacuolar protein sorting 45A (yeast)"	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.811T>G	1.37:g.150053547T>G	ENSP00000358126:p.Phe271Val		99	0	0		108	0.14	15	NM_007259	27	0.41	11	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	CCDS944.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035877	0.75617	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106;ENST00000419023	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.36	5.36	0.76844	.	0.044234	0.85682	D	0.000000	D	0.88555	0.6468	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.64830	0.994;0.975;0.97;0.975	P;P;P;P	0.61722	0.88;0.893;0.835;0.893	D	0.91543	0.5251	10	0.72032	D	0.01	.	14.6962	0.69124	0.0:0.0:0.0:1.0	.	166;271;91;271	F5H8K1;Q53FR8;A0AR27;Q9NRW7	.;.;.;VPS45_HUMAN	V	271;166;146;202;202	ENSP00000358126:F271V;ENSP00000358124:F166V;ENSP00000440690:F202V;ENSP00000400143:F202V	ENSP00000358124:F166V	F	+	1	0	VPS45	148320171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.841000	0.86834	2.250000	0.74265	0.455000	0.32223	TTC			0.363	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034964.1		NM_007259		G	150053547	T	G	150053547	3	3	80	1	0	0	0	0	1	0	0	0	17235	1493	52	4	841	4	VPS45	1	150053547	Missense_Mutation	SNP	T	TCGA-2X-A9D5-01A-11D-A435-10	38096014	150053547	99197074	7	5653											
IVL	3713	broad.mit.edu	37	chr1	152883285	152883285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcaactggagcagctggagGagcaggaggggcagctgaag	11	3	20	7	0	0	1	0	1	0	0	0	5	0	5	0	7	5	6	0	7	2	0			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:152883285G>C	ENST00000368764.3	+	2	1076	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	IVL_ENST00000392667.2_Missense_Mutation_p.E192Q			P07476	INVO_HUMAN	involucrin	338	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.E338Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagctggaggagcaggaggg	0.667																																					p.E338Q													IVL,NS,carcinoma,0,1	IVL	100	1	1	Substitution - Missense(1)	endometrium(1)	c.G1012C												16	15	15					1																	152883285		2119	4176	6295	SO:0001583	missense	3713	exon2			CTGGAGGAGCAGG	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1012G>C	1.37:g.152883285G>C	ENSP00000357753:p.Glu338Gln		129	0.015503876	2		111	0.05	5	NM_005547	0		0	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	a	1.418	-0.573547	0.03882	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.09255	3.15;3.0	3.88	-1.02	0.10135	.	.	.	.	.	T	0.00724	0.0024	N	0.00483	-1.445	0.09310	N	1	B	0.18741	0.03	B	0.21708	0.036	T	0.45425	-0.9262	9	0.02654	T	1	.	14.4783	0.67562	0.0:0.4237:0.5763:0.0	.	338	P07476	INVO_HUMAN	Q	338;192	ENSP00000357753:E338Q;ENSP00000376435:E192Q	ENSP00000357753:E338Q	E	+	1	0	IVL	151149909	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-0.056000	0.13221	-1.514000	0.00941	GAG			0.667	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034664.1		NM_005547		C	152883285	G	C	152883285	3	2	80	1	0	0	0	0	1	0	0	0	7944	1175	41	5	1014	5	IVL	1	152883285	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	2829738	152883285	96367336	8	5654											
C1orf77	26097	broad.mit.edu	37	chr1	153610804	153610804	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaacaaacagccgacGccagtgaatattcgggcttc	13	7	10	11	3	0	3	0	2	0	1	2	4	0	3	2	1	3	1	2	1	5	3			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:153610804G>T	ENST00000368694.3	+	3	411	c.99G>T	c.(97-99)acG>acT	p.T33T	CHTOP_ENST00000368686.1_5'Flank|CHTOP_ENST00000368687.1_Silent_p.T8T|CHTOP_ENST00000403433.1_Silent_p.T33T|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368690.3_Silent_p.T33T	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	33					mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						AACAGCCGACGCCAGTGAATA	0.428																																					p.T33T													CHTOP,NS,carcinoma,+1,1	CHTOP	34	1	0			c.G99T												74	77	76					1																	153610804		2203	4300	6503	SO:0001819	synonymous_variant	26097	exon3			GCCGACGCCAGTG		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"small protein rich in arginine and glycine", "Friend of Prmt1"	614206	"chromosome 1 open reading frame 77"	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.99G>T	1.37:g.153610804G>T			344	0	0		334	0.01	4	NM_001206612	371	0	0	D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Silent	SNP	ENST00000368694.3	37	CCDS1048.1																																																																																					0.428	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000089967.1		NM_015607		T	153610804	G	T	153610804	2	4	80	1	0	0	0	0	0	0	0	1	2061	1074	38	1		1	C1orf77	1	153610804	Silent	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	727519	153610804	95639817	9	5655											
CHRNB2	1141	mdanderson.org	37	chr1	154544498	154544498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgtcggtgcaggggttggCcggggccttcggggctgagc	2	7	21	11	5	0	1	0	1	0	0	2	1	0	1	2	8	2	3	2	8	0	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:154544498C>T	ENST00000368476.3	+	5	1463	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	400					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|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)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CAGGGGTTGGCCGGGGCCTTC	0.746																																					p.A400V													.	.			0			c.C1199T												2	2	2					1																	154544498		1455	3052	4507	SO:0001583	missense	1141	exon5			GGTTGGCCGGGGC	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1199C>T	1.37:g.154544498C>T	ENSP00000357461:p.Ala400Val		15	0	0		12	0.17	2	NM_000748	4	0	0	Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	3.082	-0.188750	0.06299	.	.	ENSG00000160716	ENST00000368476	D	0.85013	-1.93	3.97	1.04	0.20106	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.088980	0.04356	U	0.356635	T	0.52789	0.1756	N	0.21545	0.675	0.09310	N	1	B	0.20164	0.042	B	0.25506	0.061	T	0.45760	-0.9239	10	0.12766	T	0.61	.	3.6558	0.08220	0.1312:0.5697:0.1442:0.1549	.	400	P17787	ACHB2_HUMAN	V	400	ENSP00000357461:A400V	ENSP00000357461:A400V	A	+	2	0	CHRNB2	152811122	0.667000	0.27484	0.022000	0.16811	0.094000	0.18550	1.796000	0.38794	0.410000	0.25675	0.313000	0.20887	GCC			0.746	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090697.1		NM_000748		T	154544498	C	T	154544498	3	4	80	1	0	0	0	0	1	0	0	0	3393	739	26	2	1217	2	CHRNB2	1	154544498	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	933694	154544498	94706123	10	5656											
APOA1BP	128240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	156563324	156563324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagggactcactgtgcccaTtgccagcatcgacattccct	9	9	9	14	1	1	0	1	0	0	0	3	3	2	1	3	1	3	1	3	1	1	2	rs200378020		TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:156563324T>C	ENST00000368235.3	+	5	684	c.641T>C	c.(640-642)aTt>aCt	p.I214T	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Silent_p.H195H|APOA1BP_ENST00000368233.3_Missense_Mutation_p.I214T	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTGTGCCCATTGCCAGCATC	0.577																																					p.I214T													.	.			0			c.T641C							T	THR/ILE	0,4406		0,0,2203	116	95	102		641	5.6	1	1		102	1,8599	1.2+/-3.3	0,1,4299	yes	missense	APOA1BP	NM_144772.2	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	214/289	156563324	1,13005	2203	4300	6503	SO:0001583	missense	128240	exon5			TGCCCATTGCCAG	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"apoA-I binding protein"	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.641T>C	1.37:g.156563324T>C	ENSP00000357218:p.Ile214Thr		110	0	0		107	0.1	11	NM_144772	385	0.3	116		Missense_Mutation	SNP	ENST00000368235.3	37	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054090	0.75960	0.0	1.16E-4	ENSG00000163382	ENST00000446584;ENST00000368235;ENST00000368233	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	YjeF-related protein, N-terminal (5);	0.176557	0.48767	D	0.000170	T	0.62612	0.2442	M	0.81179	2.53	0.58432	D	0.999999	D;D	0.71674	0.966;0.998	D;D	0.75020	0.926;0.985	T	0.69068	-0.5243	10	0.66056	D	0.02	.	13.6475	0.62290	0.0:0.0:0.0:1.0	.	214;214	Q8NCW5;Q5T3I4	AIBP_HUMAN;.	T	232;214;214	ENSP00000357218:I214T;ENSP00000357216:I214T	ENSP00000357216:I214T	I	+	2	0	APOA1BP	154829948	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.119000	0.64679	2.097000	0.63578	0.533000	0.62120	ATT			0.577	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000081044.1		NM_144772		C	156563324	T	C	156563324	3	2	80	1	0	0	0	0	1	0	0	0	781	1493	52	4	659	4	APOA1BP	1	156563324	Missense_Mutation	SNP	T	TCGA-2X-A9D5-01A-11D-A435-10	2018826	156563324	92687297	11	5657											
ATP2B4	493	mdanderson.org	37	chr1	203669390	203669390	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgatctgaagattgatGagagctctctgacaggggaa	13	9	14	5	0	2	6	0	5	2	2	3	9	2	8	0	3	1	1	0	3	3	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:203669390G>T	ENST00000357681.5	+	5	1829	c.706G>T	c.(706-708)Gag>Tag	p.E236*	ATP2B4_ENST00000391954.2_Nonsense_Mutation_p.E236*|ATP2B4_ENST00000341360.2_Nonsense_Mutation_p.E236*|ATP2B4_ENST00000367218.3_Nonsense_Mutation_p.E236*|ATP2B4_ENST00000367219.3_Nonsense_Mutation_p.E236*	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	236					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)			GAAGATTGATGAGAGCTCTCT	0.507																																					p.E236X													.	.			0			c.G706T												112	107	109					1																	203669390		2203	4300	6503	SO:0001587	stop_gained	493	exon5			ATTGATGAGAGCT	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.706G>T	1.37:g.203669390G>T	ENSP00000350310:p.Glu236*		86	0	0		74	0.05	4	NM_001684	19	0	0	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Nonsense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	41	9.117793	0.99071	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	.	.	.	4.9	4.9	0.64082	.	0.000000	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.2804	18.036	0.89302	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000340930:E236X	E	+	1	0	ATP2B4	201936013	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	9.807000	0.99171	2.427000	0.82271	0.561000	0.74099	GAG			0.507	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087462.1		NM_001001396		T	203669390	G	T	203669390	4	4	80	1	0	0	0	0	0	1	0	0	1142	1291	45	3	720	3	ATP2B4	1	203669390	Nonsense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	47106066	203669390	45581231	12	5658											
SRP9	6726	broad.mit.edu	37	chr1	225976948	225976948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaatttctgacagtgtttgGtgtataaaacagaccaagct	15	12	8	6	0	1	2	0	1	1	1	1	2	1	2	1	1	2	3	1	1	6	4			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr1:225976948G>T	ENST00000304786.7	+	3	260	c.148G>T	c.(148-150)Gtg>Ttg	p.V50L	SRP9_ENST00000366839.4_3'UTR|SRP9_ENST00000366838.1_3'UTR	NM_003133.5	NP_003124.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|negative regulation of translational elongation (GO:0045900)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|signal recognition particle receptor complex (GO:0005785)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|RNA binding (GO:0003723)|signal recognition particle binding (GO:0005047)			endometrium(1)|kidney(1)|skin(1)	3						ACAGTGTTTGGTGTATAAAAC	0.333																																					p.V50L													.	SRP9	5		0			c.G148T												50	46	48					1																	225976948		2203	4300	6503	SO:0001583	missense	6726	exon3			TGTTTGGTGTATA	BC015094	CCDS1546.1, CCDS44323.1	1q42.12	2010-06-03	2002-08-29		ENSG00000143742	ENSG00000143742			11304	protein-coding gene	gene with protein product		600707	"signal recognition particle 9kD"			7730321	Standard	NM_001130440		Approved		uc001hpg.3	P49458	OTTHUMG00000037738	ENST00000304786.7:c.148G>T	1.37:g.225976948G>T	ENSP00000305230:p.Val50Leu		445	0	0		445	0.01	5	NM_003133	78	0	0	A8K0N0|Q6NVX0|Q8WTW0	Missense_Mutation	SNP	ENST00000304786.7	37	CCDS1546.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818056	0.32145	.	.	ENSG00000143742	ENST00000304786	.	.	.	5.55	2.37	0.29283	Signal recognition particle, SRP9/SRP14 subunit (2);	0.263344	0.31589	U	0.007384	T	0.38268	0.1034	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.10086	-1.0645	8	0.25106	T	0.35	-0.009	5.7833	0.18318	0.1943:0.2611:0.5446:0.0	.	50	P49458	SRP09_HUMAN	L	50	.	ENSP00000305230:V50L	V	+	1	0	SRP9	224043571	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.120000	0.57897	0.644000	0.30656	-0.345000	0.07892	GTG			0.333	SRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092054.1		NM_003133		T	225976948	G	T	225976948	3	4	80	1	0	0	0	0	1	0	0	0	15181	1261	44	3	270	3	SRP9	1	225976948	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	22307558	225976948	23273673	13	5659											
PTCD3	55037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	86361968	86361968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctaagcttctcagcttcagGtggcatttgctgactgtgct	6	14	10	11	0	2	1	2	1	1	0	3	1	2	1	1	2	4	5	1	2	1	4			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr2:86361968G>C	ENST00000254630.7	+	21	1702	c.1636G>C	c.(1636-1638)Gtg>Ctg	p.V546L	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	546					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TCAGCTTCAGGTGGCATTTGC	0.453																																					p.V546L													.	.			0			c.G1636C												114	121	118					2																	86361968		2203	4300	6503	SO:0001583	missense	55037	exon21			CTTCAGGTGGCAT		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1636G>C	2.37:g.86361968G>C	ENSP00000254630:p.Val546Leu		210	0	0		201	0.19	38	NM_017952	169	0.09	15	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	7.862	0.726342	0.15439	.	.	ENSG00000132300	ENST00000254630	T	0.28666	1.6	5.7	3.9	0.45041	.	0.707946	0.14522	N	0.314383	T	0.24314	0.0589	L	0.52573	1.65	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.002	T	0.06935	-1.0799	10	0.28530	T	0.3	-2.1813	4.3801	0.11290	0.1435:0.1308:0.6049:0.1208	.	137;546	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	L	546	ENSP00000254630:V546L	ENSP00000254630:V546L	V	+	1	0	PTCD3	86215479	0.831000	0.29352	0.992000	0.48379	0.403000	0.30841	0.962000	0.29280	0.759000	0.33084	0.650000	0.86243	GTG			0.453	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329854.1		NM_017952		C	86361968	G	C	86361968	3	2	80	1	0	0	0	0	1	0	0	0	12749	1261	44	5	1718	5	PTCD3	2	86361968	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		86361968	156837405	14	5660											
FAM171B	165215	hgsc.bcm.edu	37	chr2	187559029	187559029	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgacctcagcctcatccaAcagcagcagcagcagcagca	12	4	8	17	1	2	0	2	0	0	0	4	1	4	0	4	0	8	6	4	0	1	0	rs549897920|rs56669143	byFrequency	TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr2:187559029A>G	ENST00000304698.5	+	1	332	c.129A>G	c.(127-129)caA>caG	p.Q43Q	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	43	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCCTCATCcaacagcagcagc	0.642																																					p.Q43Q													.	.			0			c.A129G												18	20	19					2																	187559029		2201	4300	6501	SO:0001819	synonymous_variant	165215	exon1			CATCCAACAGCAG	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.129A>G	2.37:g.187559029A>G			58	0	0		49	0.08	4	NM_177454	2	0	0	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																					0.642	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334679.1		NM_177454		G	187559029	A	G	187559029	2	3	80	1	0	0	0	0	0	0	0	1	5501	40	2	4		4	FAM171B	2	187559029	Silent	SNP	A	TCGA-2X-A9D5-01A-11D-A435-10	101197061	187559029	55640344	15	5661											
SCAP	22937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	47455365	47455365	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccagcttctccagcacAgagggcacatacaccaggct	11	6	9	15	0	1	1	0	0	1	1	3	1	2	1	3	2	3	4	3	2	1	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr3:47455365A>G	ENST00000265565.5	-	23	4231	c.3819T>C	c.(3817-3819)tcT>tcC	p.S1273S	SCAP_ENST00000545718.1_Silent_p.S880S|SCAP_ENST00000441517.2_Silent_p.S1017S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1273	Interaction with SREBF2. {ECO:0000250}.				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)		TCTCCAGCACAGAGGGCACAT	0.622																																					p.S1273S	Pancreas(149;978 1908 29304 37806 46700)												.	.			0			c.T3819C												131	137	135					3																	47455365		2203	4300	6503	SO:0001819	synonymous_variant	22937	exon23			CAGCACAGAGGGC	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.3819T>C	3.37:g.47455365A>G			115	0	0		127	0.17	21	NM_012235	278	0.26	71	Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	CCDS2755.2																																																																																					0.622	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246872.2		NM_012235		G	47455365	A	G	47455365	2	3	80	1	0	0	0	0	0	0	0	1	13900	175	7	4		4	SCAP	3	47455365	Silent	SNP	A	TCGA-2X-A9D5-01A-11D-A435-10		47455365	150567065	16	5662											
BSN	8927	mdanderson.org	37	chr3	49700906	49700906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaataccctctggggcagCatcacgccagccacagacac	12	4	9	16	1	2	1	1	0	1	1	2	1	2	1	3	2	3	3	3	2	2	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr3:49700906C>T	ENST00000296452.4	+	7	11429	c.11315C>T	c.(11314-11316)gCa>gTa	p.A3772V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3772					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)		TCTGGGGCAGCATCACGCCAG	0.642																																					p.A3772V													.	.			0			c.C11315T												20	23	22					3																	49700906		2202	4297	6499	SO:0001583	missense	8927	exon7			GGGCAGCATCACG	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.11315C>T	3.37:g.49700906C>T	ENSP00000296452:p.Ala3772Val		36	0	0		38	0.08	3	NM_003458	36	0	0	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498205	0.26861	.	.	ENSG00000164061	ENST00000296452	T	0.18657	2.2	5.02	4.13	0.48395	.	1.239200	0.05725	N	0.598590	T	0.20659	0.0497	N	0.22421	0.69	0.33724	D	0.617393	B	0.20052	0.041	B	0.21917	0.037	T	0.16041	-1.0416	10	0.46703	T	0.11	-0.4909	14.9701	0.71226	0.0:0.856:0.144:0.0	.	3772	Q9UPA5	BSN_HUMAN	V	3772	ENSP00000296452:A3772V	ENSP00000296452:A3772V	A	+	2	0	BSN	49675910	0.371000	0.25056	0.081000	0.20488	0.708000	0.40852	1.763000	0.38461	1.061000	0.40601	0.462000	0.41574	GCA			0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000258164.1		NM_003458		T	49700906	C	T	49700906	3	4	80	1	0	0	0	0	1	0	0	0	1532	710	25	2	11341	2	BSN	3	49700906	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	2245541	49700906	148321524	17	5663											
SEMA3G	56920	mdanderson.org	37	chr3	52475647	52475647	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccgaggacctccacttcGgaagatcatggcctctcgcc	7	8	11	15	3	2	1	1	0	1	1	5	4	3	3	5	4	0	0	5	4	1	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr3:52475647G>T	ENST00000231721.2	-	6	609	c.610C>A	c.(610-612)Cga>Aga	p.R204R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	204	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCTCCACTTCGGAAGATCATG	0.642																																					p.R204R													SEMA3G,colon,carcinoma,0,1	SEMA3G	0	1	0			c.C610A												54	54	54					3																	52475647		2203	4300	6503	SO:0001819	synonymous_variant	56920	exon6			CACTTCGGAAGAT		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.610C>A	3.37:g.52475647G>T			60	0	0		52	0.06	3	NM_020163	8	0	0	Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	CCDS2856.1																																																																																					0.642	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351354.1		NM_020163		T	52475647	G	T	52475647	2	4	80	1	0	0	0	0	0	0	0	1	14053	1124	39	1		1	SEMA3G	3	52475647	Silent	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	2774741	52475647	145546783	18	5664											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599340	55599340	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatcaagaatgattctaaTtatgtggttaaaggaaacgt	16	12	9	4	1	2	2	1	1	1	1	2	4	2	3	0	2	1	1	0	2	7	4	rs121913514		TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr4:55599340T>G	ENST00000288135.5	+	17	2563	c.2466T>G	c.(2464-2466)aaT>aaG	p.N822K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> K (in a germ cell tumor of the testis; somatic mutation). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N822K(34)|p.N822N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATTCTAATTATGTGGTTA	0.383	N822K(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.N822K			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,malignant_melanoma,+2,48	KIT	2	48	35	Substitution - Missense(34)|Substitution - coding silent(1)	soft_tissue(17)|haematopoietic_and_lymphoid_tissue(11)|skin(4)|testis(2)|genital_tract(1)	c.T2466G												149	151	151					4																	55599340		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	TTCTAATTATGTG	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2466T>G	4.37:g.55599340T>G	ENSP00000288135:p.Asn822Lys		68	0	0		89	0.4	36	NM_000222	541	0.76	410	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597891	0.66332	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82344	-1.6;-1.6	5.47	3.01	0.34805	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	0.000009	D	0.84284	0.5438	L	0.33293	1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	D	0.83792	0.0231	10	0.87932	D	0	.	8.7243	0.34460	0.0:0.2153:0.0:0.7847	.	818;822	P10721-2;P10721	.;KIT_HUMAN	K	822;818	ENSP00000288135:N822K;ENSP00000390987:N818K	ENSP00000288135:N822K	N	+	3	2	KIT	55294097	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.920000	0.40025	0.883000	0.36040	0.477000	0.44152	AAT			0.383	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				G	55599340	T	G	55599340	3	3	80	1	0	0	0	0	1	0	0	0	8344	1490	52	4	2532	4	KIT	4	55599340	Missense_Mutation	SNP	T	TCGA-2X-A9D5-01A-11D-A435-10		55599340	135554936	19	5665											
ART3	419	mdanderson.org	37	chr4	77003112	77003112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccagcaattagatactGtgtgggaaaatgcaaaagcc	15	7	10	9	0	0	1	0	0	0	1	0	2	0	2	3	1	4	2	3	1	7	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr4:77003112G>T	ENST00000355810.4	+	3	324	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	ART3_ENST00000341029.5_Missense_Mutation_p.V69L|ART3_ENST00000349321.3_Missense_Mutation_p.V69L|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	69					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATTAGATACTGTGTGGGAAAA	0.403																																					p.V69L													.	.			0			c.G205T												87	89	88					4																	77003112		2203	4300	6503	SO:0001583	missense	419	exon3			GATACTGTGTGGG	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.205G>T	4.37:g.77003112G>T	ENSP00000348064:p.Val69Leu		56	0	0		52	0.06	3	NM_001130016	0		0	Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773791	0.69992	.	.	ENSG00000156219	ENST00000513353;ENST00000341029;ENST00000513122;ENST00000504914;ENST00000355810;ENST00000349321;ENST00000510423	T;T;T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13;3.13;3.13	6.04	6.04	0.98038	.	0.244896	0.36519	N	0.002541	T	0.27594	0.0678	M	0.68593	2.085	0.34325	D	0.687034	D;D;D;D;D;D;B	0.69078	0.994;0.962;0.981;0.97;0.997;0.996;0.34	P;P;P;P;D;P;B	0.65573	0.859;0.677;0.869;0.686;0.936;0.894;0.343	T	0.04495	-1.0947	10	0.49607	T	0.09	-16.0553	18.0887	0.89466	0.0:0.0:1.0:0.0	.	39;69;69;69;69;69;69	D6RBN3;E7ESB3;B4DHX3;E7ER42;Q13508;Q13508-3;Q13508-2	.;.;.;.;NAR3_HUMAN;.;.	L	69	ENSP00000421345:V69L;ENSP00000343843:V69L;ENSP00000422287:V69L;ENSP00000421431:V69L;ENSP00000348064:V69L;ENSP00000304313:V69L;ENSP00000425327:V69L	ENSP00000343843:V69L	V	+	1	0	ART3	77222136	1.000000	0.71417	0.968000	0.41197	0.387000	0.30353	4.272000	0.58908	2.873000	0.98535	0.563000	0.77884	GTG			0.403	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252416.2		NM_001179		T	77003112	G	T	77003112	3	4	80	1	0	0	0	0	1	0	0	0	998	1377	48	3	211	3	ART3	4	77003112	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	21403772	77003112	114151164	20	5666											
NR3C2	4306	mdanderson.org	37	chr4	149357077	149357077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgttattagtgttcgaaggGctggaaacagagcaccttga	11	11	12	7	1	0	2	0	1	0	1	1	4	0	3	1	2	2	4	1	2	4	4			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr4:149357077G>T	ENST00000358102.3	-	2	1298	c.936C>A	c.(934-936)agC>agA	p.S312R	NR3C2_ENST00000512865.1_Missense_Mutation_p.S312R|NR3C2_ENST00000511528.1_Missense_Mutation_p.S312R|NR3C2_ENST00000355292.3_Missense_Mutation_p.S312R|NR3C2_ENST00000344721.4_Missense_Mutation_p.S312R	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	312	Modulating.				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)	TGTTCGAAGGGCTGGAAACAG	0.473																																					p.S312R	Melanoma(27;428 957 40335 51025 51111)												.	.			0			c.C936A												86	89	88					4																	149357077		2203	4300	6503	SO:0001583	missense	4306	exon2			CGAAGGGCTGGAA	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.936C>A	4.37:g.149357077G>T	ENSP00000350815:p.Ser312Arg		109	0	0		71	0.07	5	NM_001166104	0		0	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503442	0.26949	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.47;-2.45;-2.88	5.13	5.13	0.70059	.	0.362839	0.33199	N	0.005179	D	0.87928	0.6301	L	0.27053	0.805	0.40221	D	0.977739	D;P	0.56035	0.974;0.94	P;B	0.47299	0.543;0.306	D	0.86883	0.2043	9	.	.	.	.	12.3353	0.55062	0.078:0.0:0.922:0.0	.	312;312	B0ZBF5;B0ZBF6	.;.	R	312	ENSP00000341390:S312R;ENSP00000347441:S312R;ENSP00000350815:S312R;ENSP00000423510:S312R;ENSP00000343907:S312R;ENSP00000421481:S312R	.	S	-	3	2	NR3C2	149576527	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.778000	0.55371	2.543000	0.85770	0.655000	0.94253	AGC			0.473	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364986.1				T	149357077	G	T	149357077	3	4	80	1	0	0	0	0	1	0	0	0	10648	1194	42	2	2050	2	NR3C2	4	149357077	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	72353965	149357077	41797199	21	5667											
C5orf51	285636	mdanderson.org	37	chr5	41917162	41917162	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctatgatgtacagtggaGaaatgtgttactggggatcg	10	12	15	4	1	0	2	0	1	0	1	1	4	0	3	0	4	2	3	0	4	4	3			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr5:41917162G>T	ENST00000381647.2	+	6	665	c.646G>T	c.(646-648)Gaa>Taa	p.E216*		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	216										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTACAGTGGAGAAATGTGTTA	0.403																																					p.E216X													C5orf51,colon,carcinoma,0,1	C5orf51	0	1	0			c.G646T												125	121	123					5																	41917162		2203	4300	6503	SO:0001587	stop_gained	285636	exon6			AGTGGAGAAATGT	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.646G>T	5.37:g.41917162G>T	ENSP00000371061:p.Glu216*		63	0	0		50	0.06	3	NM_175921	18	0	0	A2RRM9	Nonsense_Mutation	SNP	ENST00000381647.2	37	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353089	0.95830	.	.	ENSG00000205765	ENST00000381647	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.6678	17.946	0.89038	0.0:0.0:1.0:0.0	.	.	.	.	X	216	.	ENSP00000371061:E216X	E	+	1	0	C5orf51	41952919	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.846000	0.92159	2.659000	0.90383	0.655000	0.94253	GAA			0.403	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367144.1		NM_175921		T	41917162	G	T	41917162	4	4	80	1	0	0	0	0	0	1	0	0	2310	943	33	3	668	3	C5orf51	5	41917162	Nonsense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		41917162	138998098	22	5668											
DND1	373863	mdanderson.org	37	chr5	140052386	140052386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcggaactcgtagaggCggcccacgcgctggaacagc	9	4	15	13	5	1	1	1	0	0	1	2	3	1	3	1	5	3	2	1	5	3	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr5:140052386C>T	ENST00000542735.1	-	3	291	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	83	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTAGAGGCGGCCCACGCG	0.692																																					p.R83H													.	.			0			c.G248A												11	17	15					5																	140052386		2165	4273	6438	SO:0001583	missense	373863	exon3			TAGAGGCGGCCCA	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.248G>A	5.37:g.140052386C>T	ENSP00000445366:p.Arg83His		17	0	0		15	0.13	2	NM_194249	135	0	0		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341232	0.24339	.	.	ENSG00000256453	ENST00000542735	T	0.16457	2.34	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.187052	0.37304	N	0.002144	T	0.30166	0.0756	L	0.55103	1.725	0.18873	N	0.999982	D	0.76494	0.999	D	0.63877	0.919	T	0.17899	-1.0354	10	0.49607	T	0.09	-19.1629	7.5009	0.27518	0.0:0.7955:0.0:0.2045	.	83	Q8IYX4	DND1_HUMAN	H	83	ENSP00000445366:R83H	ENSP00000445366:R83H	R	-	2	0	DND1	140032570	0.578000	0.26717	1.000000	0.80357	0.077000	0.17291	1.523000	0.35932	2.555000	0.86185	0.467000	0.42956	CGC			0.692	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251669.2		NM_194249		T	140052386	C	T	140052386	3	4	80	1	0	0	0	0	1	0	0	0	4671	768	27	1	821	1	DND1	5	140052386	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	98135224	140052386	40862874	23	5669											
FOXC1	2296	mdanderson.org	37	chr6	1610746	1610746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccctacctcggcggcgaGcagagctactaccgcgcggc	6	5	14	16	6	0	1	0	0	0	1	1	2	0	1	3	3	6	2	3	3	3	3			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr6:1610746G>T	ENST00000380874.2	+	1	66	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	22					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TCGGCGGCGAGCAGAGCTACT	0.776																																					p.E22D	Pancreas(133;719 1821 3197 26645 35015)												.	.			0			c.G66T												2	2	2					6																	1610746		1369	2681	4050	SO:0001583	missense	2296	exon1			CGGCGAGCAGAGC	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.66G>T	6.37:g.1610746G>T	ENSP00000370256:p.Glu22Asp		56	0	0		42	0.07	3	NM_001453	0		0	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	g	10.78	1.446465	0.25987	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.92595	-3.07	3.31	3.31	0.37934	.	0.325457	0.26549	U	0.023758	T	0.64605	0.2613	N	0.01202	-0.96	0.38812	D	0.955431	B	0.09022	0.002	B	0.08055	0.003	T	0.60637	-0.7224	10	0.15499	T	0.54	.	14.7586	0.69588	0.0:0.0:1.0:0.0	.	22	Q12948	FOXC1_HUMAN	D	22	ENSP00000370256:E22D	ENSP00000370256:E22D	E	+	3	2	FOXC1	1555745	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.028000	0.41088	1.838000	0.53458	0.450000	0.29827	GAG			0.776	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043450.1				T	1610746	G	T	1610746	3	4	80	1	0	0	0	0	1	0	0	0	6007	962	34	2	68	2	FOXC1	6	1610746	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		1610746	169504321	24	5670											
RUNX2	860	hgsc.bcm.edu	37	chr6	45390445	45390445	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacagcagcagcagcaAcagcagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0	rs563987595	byFrequency	TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0	5008	,	,		8050	0.002		0	False		,,,				2504	0.002				p.Q58Q													RUNX2_ENST00000352853,lower_third,carcinoma,0,2	RUNX2_ENST00000352853	0	2	0			c.A174G												16	24	21					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860	exon3			GCAGCAACAGCAG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	6.37:g.45390445A>G			51	0	0		49	0.06	3	NM_001024630	1	0	0	O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	CCDS43467.2																																																																																					0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040755.2		NM_004348		G	45390445	A	G	45390445	2	3	80	1	0	0	0	0	0	0	0	1	13771	40	2	4		4	RUNX2	6	45390445	Silent	SNP	A	TCGA-2X-A9D5-01A-11D-A435-10	43779699	45390445	125724622	25	5671											
LRRC1	55227	mdanderson.org	37	chr6	53660068	53660068	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgatgttccactgcaTccccctgtggcggtgcaacc	5	8	13	15	3	0	0	0	0	0	0	2	1	2	0	4	4	3	3	4	4	1	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr6:53660068T>C	ENST00000370888.1	+	1	291	c.14T>C	c.(13-15)aTc>aCc	p.I5T	LRRC1_ENST00000370882.1_Missense_Mutation_p.I5T|RP13-476E20.1_ENST00000429053.1_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	5						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)		TTCCACTGCATCCCCCTGTGG	0.716																																					p.I5T													.	.			0			c.T14C												31	28	29					6																	53660068		2203	4300	6503	SO:0001583	missense	55227	exon1			ACTGCATCCCCCT	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.14T>C	6.37:g.53660068T>C	ENSP00000359925:p.Ile5Thr		45	0	0		47	0.06	3	NM_018214	5	0	0	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735420	0.89482	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.57907	3.63;0.37	4.66	4.66	0.58398	.	0.071395	0.52532	D	0.000067	T	0.63616	0.2526	M	0.75264	2.295	0.58432	D	0.999999	D	0.57899	0.981	D	0.69824	0.966	T	0.70022	-0.4986	10	0.87932	D	0	.	12.9155	0.58203	0.0:0.0:0.0:1.0	.	5	Q9BTT6	LRRC1_HUMAN	T	5	ENSP00000359925:I5T;ENSP00000359919:I5T	ENSP00000359919:I5T	I	+	2	0	LRRC1	53768027	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.939000	0.75911	1.714000	0.51371	0.460000	0.39030	ATC			0.716	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040970.2		NM_025168		C	53660068	T	C	53660068	3	2	80	1	0	0	0	0	1	0	0	0	8982	1435	50	4	16	4	LRRC1	6	53660068	Missense_Mutation	SNP	T	TCGA-2X-A9D5-01A-11D-A435-10	8269623	53660068	117454999	26	5672											
MRAP2	112609	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	84772667	84772667	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttcgtgatttttatgttTtttgtgctgaccttgctgac	4	21	9	7	1	1	3	0	3	1	0	2	3	1	3	1	0	2	3	1	0	1	8			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr6:84772667T>G	ENST00000257776.4	+	3	318	c.183T>G	c.(181-183)ttT>ttG	p.F61L		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	61					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						TTTTTATGTTTTTTGTGCTGA	0.408																																					p.F61L													.	.			0			c.T183G												251	223	233					6																	84772667		2203	4300	6503	SO:0001583	missense	112609	exon3			TATGTTTTTTGTG	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.183T>G	6.37:g.84772667T>G	ENSP00000257776:p.Phe61Leu		121	0	0		146	0.15	22	NM_138409	17	0.41	7	A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317097	0.81469	.	.	ENSG00000135324	ENST00000257776	D	0.91521	-2.86	5.81	3.46	0.39613	.	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.73217	2.22	0.53688	D	0.999976	D	0.71674	0.998	D	0.80764	0.994	D	0.92071	0.5664	10	0.87932	D	0	-4.5026	8.5635	0.33525	0.0:0.2735:0.0:0.7265	.	61	Q96G30	MRAP2_HUMAN	L	61	ENSP00000257776:F61L	ENSP00000257776:F61L	F	+	3	2	MRAP2	84829386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.253000	0.32886	1.031000	0.39867	0.533000	0.62120	TTT			0.408	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041367.1		NM_138409		G	84772667	T	G	84772667	3	3	80	1	0	0	0	0	1	0	0	0	9770	1838	64	4	189	4	MRAP2	6	84772667	Missense_Mutation	SNP	T	TCGA-2X-A9D5-01A-11D-A435-10	31112599	84772667	86342400	27	5673											
HSF2	3298	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	122744744	122744744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttgagctgttggattaTcttgacagtattgactgcag	9	14	13	5	0	1	3	0	3	1	0	1	4	1	4	0	2	2	5	0	2	2	6			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr6:122744744T>C	ENST00000368455.4	+	10	1281	c.1089T>C	c.(1087-1089)taT>taC	p.Y363Y	HSF2_ENST00000452194.1_Silent_p.Y363Y	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	363	Hydrophobic repeat HR-C.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TGTTGGATTATCTTGACAGTA	0.358																																					p.Y363Y													.	.			0			c.T1089C												128	115	119					6																	122744744		2203	4300	6503	SO:0001819	synonymous_variant	3298	exon10			GGATTATCTTGAC	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1089T>C	6.37:g.122744744T>C			58	0	0		60	0.2	12	NM_004506	65	0.26	17	B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Silent	SNP	ENST00000368455.4	37	CCDS5124.1																																																																																					0.358	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043520.1		NM_004506		C	122744744	T	C	122744744	2	2	80	1	0	0	0	0	0	0	0	1	7411	1442	50	4		4	HSF2	6	122744744	Silent	SNP	T	TCGA-2X-A9D5-01A-11D-A435-10	37972077	122744744	48370323	28	5674											
RBM16	22828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	155154403	155154403	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccaccacctataccagtAcagaatgatcctgaacttta	14	9	5	13	0	0	3	0	2	0	1	1	3	1	3	5	0	4	1	5	0	6	5			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr6:155154403A>T	ENST00000367178.3	+	20	4266	c.3690A>T	c.(3688-3690)gtA>gtT	p.V1230V	SCAF8_ENST00000367186.4_Silent_p.V1296V|SCAF8_ENST00000417268.1_Silent_p.V1230V|TIAM2_ENST00000461783.3_5'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1230					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						CTATACCAGTACAGAATGATC	0.393																																					p.V1230V													.	.			0			c.A3690T												77	74	75					6																	155154403		2203	4300	6503	SO:0001819	synonymous_variant	22828	exon20			ACCAGTACAGAAT	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.3690A>T	6.37:g.155154403A>T			107	0	0		106	0.17	18	NM_014892	269	0.28	75	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	CCDS5247.1																																																																																					0.393	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042798.1		NM_014892		T	155154403	A	T	155154403	2	4	80	1	0	0	0	0	0	0	0	1	13141	378	14	5		5	RBM16	6	155154403	Silent	SNP	A	TCGA-2X-A9D5-01A-11D-A435-10	32409659	155154403	15960664	29	5675											
TNRC18	84629	mdanderson.org	37	chr7	5391702	5391702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactcgtccttcaggaattCttcgtcttcctctgagtccg	5	14	7	15	3	4	1	1	1	3	0	9	2	7	2	4	1	0	0	4	1	1	4	rs3801048	byFrequency	TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr7:5391702C>T	ENST00000430969.1	-	17	5566	c.5218G>A	c.(5218-5220)Gaa>Aaa	p.E1740K	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1740K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1740							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)		TTCAGGAATTCTTCGTCTTCC	0.507																																					p.E1740K													.	.			0			c.G5218A												39	36	37					7																	5391702		1568	3582	5150	SO:0001583	missense	84629	exon17			GGAATTCTTCGTC	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.5218G>A	7.37:g.5391702C>T	ENSP00000395538:p.Glu1740Lys		125	0	0		127	0.02	3	NM_001080495	215	0	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	15.65	2.896896	0.52121	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.47177	2.68;2.67;0.85	4.92	4.0	0.46444	.	0.946100	0.08634	N	0.916650	T	0.44705	0.1306	M	0.62723	1.935	0.46131	P	0.0011149999999999771	B;B	0.32245	0.02;0.361	B;B	0.22386	0.022;0.039	T	0.48603	-0.9021	9	0.15499	T	0.54	.	14.7976	0.69889	0.0:0.8547:0.1453:0.0	.	795;1740	A8MSW5;O15417	.;TNC18_HUMAN	K	1740;1740;795;230	ENSP00000382452:E1740K;ENSP00000395538:E1740K;ENSP00000395990:E230K	ENSP00000382452:E1740K	E	-	1	0	TNRC18	5358228	0.733000	0.28132	0.005000	0.12908	0.952000	0.60782	2.845000	0.48254	0.997000	0.38969	0.561000	0.74099	GAA			0.507	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding						T	5391702	C	T	5391702	3	4	80	1	0	0	0	0	1	0	0	0	16362	922	32	3	3744	3	TNRC18	7	5391702	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10		5391702	153746961	30	5676											
STK17A	9263	mdanderson.org	37	chr7	43635533	43635533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgagaaaatgtataaaGaaagattctgggaaagaatt	18	10	12	1	0	1	4	0	1	1	4	1	6	1	5	0	2	0	1	0	2	8	4			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr7:43635533G>T	ENST00000319357.5	+	2	419	c.240G>T	c.(238-240)aaG>aaT	p.K80N	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AATGTATAAAGAAAGATTCTG	0.348																																					p.K80N													.	.			0			c.G240T												65	70	68					7																	43635533		2203	4300	6503	SO:0001583	missense	9263	exon2			TATAAAGAAAGAT	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"death-associated protein kinase-related 1"	604726	"serine/threonine kinase 17a (apoptosis-inducing)"			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.240G>T	7.37:g.43635533G>T	ENSP00000319192:p.Lys80Asn		65	0	0		52	0.06	3	NM_004760	71	0	0	A4D1V6|Q8IVC8	Missense_Mutation	SNP	ENST00000319357.5	37	CCDS5470.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796867	0.50208	.	.	ENSG00000164543	ENST00000319357	T	0.65178	-0.14	5.03	2.18	0.27775	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.459701	0.17976	N	0.155714	T	0.33962	0.0881	N	0.04373	-0.215	0.29254	N	0.871778	P	0.40731	0.728	B	0.37267	0.245	T	0.30416	-0.9979	10	0.87932	D	0	.	5.4104	0.16344	0.2218:0.0:0.6378:0.1404	.	80	Q9UEE5	ST17A_HUMAN	N	80	ENSP00000319192:K80N	ENSP00000319192:K80N	K	+	3	2	STK17A	43602058	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	2.492000	0.45311	0.138000	0.18790	0.591000	0.81541	AAG			0.348	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250902.1		NM_004760		T	43635533	G	T	43635533	3	4	80	1	0	0	0	0	1	0	0	0	15313	933	33	3	246	3	STK17A	7	43635533	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	38243831	43635533	115503130	31	5677											
LHFPL3	375612	hgsc.bcm.edu	37	chr7	103969251	103969251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagccgccgccgctgcCgccgccgccgccgccgcgat	2	2	14	23	11	0	0	0	0	0	0	0	2	0	1	10	1	2	1	10	1	0	0			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr7:103969251C>T	ENST00000535008.1	+	1	148	c.24C>T	c.(22-24)gcC>gcT	p.A8A	LHFPL3_ENST00000543266.1_Silent_p.A8A|LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000401970.2_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	8						integral component of membrane (GO:0016021)		p.A8A(1)		kidney(1)|large_intestine(2)|lung(6)	9						ccgccgctgccgccgccgccg	0.721																																					p.A8A													LHFPL3,NS,carcinoma,0,1	LHFPL3	0	1	1	Substitution - coding silent(1)	kidney(1)	c.C24T												11	14	13					7																	103969251		1949	4092	6041	SO:0001819	synonymous_variant	375612	exon1			CGCTGCCGCCGCC	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.24C>T	7.37:g.103969251C>T			46	0.0217391304	1		49	0.06	3	NM_199000	0		0	A1L383|A4D0Q5	Silent	SNP	ENST00000535008.1	37																																																																																						0.721	LHFPL3-201	KNOWN	basic	protein_coding	protein_coding				NM_199000		T	103969251	C	T	103969251	2	4	80	1	0	0	0	0	0	0	0	1	8781	639	23	1		1	LHFPL3	7	103969251	Silent	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	60333718	103969251	55169412	32	5678											
ATP6V1H	51606	broad.mit.edu	37	chr8	54742088	54742088	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagatttataaatgttttAgcacactaaaaaaaaaaatg	21	12	4	4	0	1	1	1	0	0	1	1	1	1	1	0	0	1	2	0	0	10	6			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr8:54742088A>G	ENST00000359530.2	-	4	485	c.222T>C	c.(220-222)gcT>gcC	p.A74A	ATP6V1H_ENST00000396774.2_Silent_p.A74A|ATP6V1H_ENST00000355221.3_Silent_p.A74A|ATP6V1H_ENST00000520188.1_Silent_p.A34A	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	74					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TAAATGTTTTAGCACACTAAA	0.294																																					p.A74A													.	ATP6V1H	66		0			c.T222C												77	77	77					8																	54742088		2203	4299	6502	SO:0001819	synonymous_variant	51606	exon4			TGTTTTAGCACAC	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"ATPases / V-type"	18303	protein-coding gene	gene with protein product	"vacuolar ATP synthase subunit H"	608861	"ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.222T>C	8.37:g.54742088A>G			18	0	0		38	0.11	4	NM_015941	91	0	0	B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Silent	SNP	ENST00000359530.2	37	CCDS6153.1																																																																																					0.294	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377865.1		NM_015941		G	54742088	A	G	54742088	2	3	80	1	0	0	0	0	0	0	0	1	1189	407	15	4		4	ATP6V1H	8	54742088	Silent	SNP	A	TCGA-2X-A9D5-01A-11D-A435-10		54742088	91621934	33	5679											
FAM122A	116224	broad.mit.edu	37	chr9	71395159	71395159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcggagggcggtggcagcGgcggcggcgggggcctcagg	3	2	25	11	7	1	0	1	0	0	0	1	1	1	1	1	11	1	1	1	11	0	0			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr9:71395159G>A	ENST00000394264.3	+	1	196	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	27	Poly-Gly.									endometrium(1)|lung(2)	3						CGGTGGCAGCGGCGGCGGCGG	0.741																																					p.G27S													.	FAM122A	14		0			c.G79A												6	9	8					9																	71395159		1945	3936	5881	SO:0001583	missense	116224	exon1			GGCAGCGGCGGCG	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.79G>A	9.37:g.71395159G>A	ENSP00000377807:p.Gly27Ser		66	0.0151515152	1		81	0.04	3	NM_138333	42	0	0		Missense_Mutation	SNP	ENST00000394264.3	37	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	G	0.903	-0.721572	0.03182	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	T	0.52754	0.65	4.92	-0.807	0.10872	.	0.487974	0.15323	N	0.268444	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.21861	-1.0233	10	0.02654	T	1	-3.9947	1.6671	0.02804	0.1714:0.1345:0.4232:0.2709	.	27	Q96E09	F122A_HUMAN	S	27	ENSP00000377807:G27S	ENSP00000366492:G27S	G	+	1	0	FAM122A	70584979	.	.	0.017000	0.16124	0.196000	0.23810	.	.	-0.032000	0.13758	-0.253000	0.11424	GGC			0.741	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052556.1		NM_138333		A	71395159	G	A	71395159	3	1	80	1	0	0	0	0	1	0	0	0	5429	1116	39	1	81	1	FAM122A	9	71395159	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		71395159	69818272	34	5680											
ABCA1	19	mdanderson.org	37	chr9	107554227	107554227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctttacctcaccaggaGgaatgcccacgcaaatcctg	10	9	9	13	1	2	0	1	0	1	0	3	2	3	2	4	2	2	1	4	2	3	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr9:107554227G>T	ENST00000374736.3	-	43	6204	c.5810C>A	c.(5809-5811)cCt>cAt	p.P1937H		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1937	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	CTCACCAGGAGGAATGCCCAC	0.428																																					p.P1937H													.	.			0			c.C5810A												105	84	91					9																	107554227		2203	4300	6503	SO:0001583	missense	19	exon43			CCAGGAGGAATGC	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.5810C>A	9.37:g.107554227G>T	ENSP00000363868:p.Pro1937His		66	0	0		46	0.07	3	NM_005502	30	0	0	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866243	0.71949	.	.	ENSG00000165029	ENST00000374736	D	0.93763	-3.28	5.82	5.82	0.92795	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90621	0.7059	L	0.42744	1.35	0.80722	D	1	B	0.31949	0.348	B	0.32762	0.152	D	0.89043	0.3450	10	0.48119	T	0.1	.	15.5631	0.76266	0.0:0.1372:0.8628:0.0	.	1937	O95477	ABCA1_HUMAN	H	1937	ENSP00000363868:P1937H	ENSP00000363868:P1937H	P	-	2	0	ABCA1	106594048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.720000	0.61944	2.762000	0.94881	0.561000	0.74099	CCT			0.428	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053491.1		NM_005502		T	107554227	G	T	107554227	3	4	80	1	0	0	0	0	1	0	0	0	28	1000	35	3	1007	3	ABCA1	9	107554227	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	36159068	107554227	33659204	35	5681											
AK1	203	mdanderson.org	37	chr9	130635029	130635029	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcccctggccgagccTgagctgacctcggaccgcag	5	8	12	16	3	1	2	0	2	1	0	2	4	1	3	6	2	3	2	6	2	0	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr9:130635029T>C	ENST00000373176.1	-	4	299	c.147A>G	c.(145-147)tcA>tcG	p.S49S	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.S49S|AK1_ENST00000223836.10_Silent_p.S65S	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						TGGCCGAGCCTGAGCTGACCT	0.637																																					p.S49S													.	.			0			c.A147G												72	65	67					9																	130635029		2203	4300	6503	SO:0001819	synonymous_variant	203	exon4			CGAGCCTGAGCTG	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"Adenylate kinases"	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.147A>G	9.37:g.130635029T>C			83	0	0		50	0.06	3	NM_000476	34	0	0		Silent	SNP	ENST00000373176.1	37	CCDS6881.1																																																																																					0.637	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054307.1				C	130635029	T	C	130635029	2	2	80	1	0	0	0	0	0	0	0	1	439	1567	55	4		4	AK1	9	130635029	Silent	SNP	T	TCGA-2X-A9D5-01A-11D-A435-10	23080802	130635029	10578402	36	5682											
FRMD4A	55691	hgsc.bcm.edu;broad.mit.edu	37	chr10	13838519	13838519	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacaaaagtataaaaccacGggtcctgactttttagggaa	16	9	8	8	1	0	1	0	1	0	0	1	2	1	2	2	2	1	1	2	2	7	5			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr10:13838519G>T	ENST00000357447.2	-	5	644	c.276C>A	c.(274-276)ccC>ccA	p.P92P	FRMD4A_ENST00000358621.4_Silent_p.P77P|FRMD4A_ENST00000378503.1_Silent_p.P92P|FRMD4A_ENST00000342409.2_Silent_p.P108P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	92	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						ATAAAACCACGGGTCCTGACT	0.428																																					p.P92P													FRMD4A,NS,malignant_melanoma,-1,1	FRMD4A	-1	1	0			c.C276A												150	148	149					10																	13838519		2203	4300	6503	SO:0001819	synonymous_variant	55691	exon5			AACCACGGGTCCT	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.276C>A	10.37:g.13838519G>T			120	0	0		115	0.04	5	NM_018027	0		0	A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	CCDS7101.1																																																																																					0.428	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000046889.1		NM_018027		T	13838519	G	T	13838519	2	4	80	1	0	0	0	0	0	0	0	1	6064	1103	39	1		1	FRMD4A	10	13838519	Silent	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		13838519	121696228	37	5683											
RASSF4	83937	mdanderson.org	37	chr10	45479556	45479556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagagttccacagacaGctcgggtaagcggagcccgc	9	5	15	12	3	0	2	0	1	0	2	2	4	1	3	2	3	3	4	2	3	1	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr10:45479556G>T	ENST00000340258.5	+	5	481	c.368G>T	c.(367-369)aGc>aTc	p.S123I	RASSF4_ENST00000334940.6_Missense_Mutation_p.S132I|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	288	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCACAGACAGCTCGGGTAAG	0.592																																					p.S123I													.	.			0			c.G368T												46	42	44					10																	45479556		2199	4297	6496	SO:0001583	missense	83937	exon5			CAGACAGCTCGGG	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.368G>T	10.37:g.45479556G>T	ENSP00000339692:p.Ser123Ile		56	0	0		42	0.07	3	NM_032023	142	0	0	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589068	0.28357	.	.	ENSG00000107551	ENST00000334940;ENST00000340258;ENST00000427758;ENST00000374411	T;T;T	0.44482	0.92;0.92;1.08	4.33	4.33	0.51752	.	1.487590	0.04975	U	0.464549	T	0.41880	0.1178	L	0.50333	1.59	0.80722	D	1	B;B	0.28258	0.205;0.001	B;B	0.18561	0.022;0.003	T	0.23332	-1.0191	10	0.51188	T	0.08	-7.0866	12.6362	0.56685	0.0:0.0:1.0:0.0	.	214;123	Q59FL4;Q9H2L5	.;RASF4_HUMAN	I	132;123;150;214	ENSP00000334543:S132I;ENSP00000339692:S123I;ENSP00000409767:S150I	ENSP00000334543:S132I	S	+	2	0	RASSF4	44799562	0.002000	0.14202	0.757000	0.31301	0.043000	0.13939	0.727000	0.25999	2.709000	0.92574	0.655000	0.94253	AGC			0.592	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047745.2		NM_032023		T	45479556	G	T	45479556	3	4	80	1	0	0	0	0	1	0	0	0	13111	971	34	2	382	2	RASSF4	10	45479556	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	31641037	45479556	90055191	38	5684											
GRK5	2869	mdanderson.org	37	chr10	121086095	121086095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaagttccctcacattagCcagtgtgaagacctccgaag	11	9	9	12	1	1	3	1	2	0	1	3	4	3	3	4	0	1	1	4	0	4	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr10:121086095C>T	ENST00000392870.2	+	2	449	c.120C>T	c.(118-120)agC>agT	p.S40S		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	40	N-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CTCACATTAGCCAGTGTGAAG	0.547																																					p.S40S													.	.			0			c.C120T												71	66	67					10																	121086095		2203	4300	6503	SO:0001819	synonymous_variant	2869	exon2			CATTAGCCAGTGT	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.120C>T	10.37:g.121086095C>T			60	0	0		36	0.08	3	NM_005308	46	0	0	D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	CCDS7612.1																																																																																					0.547	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050652.2		NM_005308		T	121086095	C	T	121086095	2	4	80	1	0	0	0	0	0	0	0	1	6807	738	26	2		2	GRK5	10	121086095	Silent	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	75606539	121086095	14448652	39	5685											
C10orf120	399814	hgsc.bcm.edu	37	chr10	124459132	124459132	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgcaagtcagactcaccGcaacggtgaagcagaactca	15	5	10	11	2	3	3	3	1	0	2	3	3	3	3	1	1	4	3	1	1	5	0	rs76198528		TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr10:124459132G>T	ENST00000329446.4	-	1	206	c.175C>A	c.(175-177)Cgg>Agg	p.R59R		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	59										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)				CAGACTCACCGCAACGGTGAA	0.493																																					p.R59R													.	.			0			c.C175A												90	78	82					10																	124459132		2203	4300	6503	SO:0001630	splice_region_variant	399814	exon1			CTCACCGCAACGG		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.176+1C>A	10.37:g.124459132G>T			82	0	0		77	0.05	4	NM_001010912	0		0	B2RU17	Silent	SNP	ENST00000329446.4	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	G	4.994	0.184619	0.09495	.	.	ENSG00000183559	ENST00000432000	.	.	.	4.28	-2.38	0.06622	.	.	.	.	.	.	.	.	.	.	.	0.31654	N	0.646401	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8705	0.1566	0.00098	0.304:0.2578:0.1515:0.2867	.	.	.	.	X	51	.	.	C	-	3	2	C10orf120	124449122	0.003000	0.15002	0.028000	0.17463	0.004000	0.04260	-0.428000	0.06991	-0.345000	0.08325	-0.139000	0.14373	TGC			0.493	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050803.1		NM_001010912	Silent	T	124459132	G	T	124459132	5	4	80	1	0	0	0	0	0	0	1	0	1592	1101	38	1	844	1	C10orf120	10	124459132	Splice_Site	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	3373037	124459132	11075615	40	5686											
CCDC73	493860	mdanderson.org	37	chr11	32739669	32739669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaataattttaccaatctGctcttcataatgaatttctg	13	16	3	9	0	4	1	1	1	3	0	4	1	4	1	1	0	2	1	1	0	6	6			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:32739669G>T	ENST00000335185.5	-	3	203	c.160C>A	c.(160-162)Cag>Aag	p.Q54K	CCDC73_ENST00000531481.1_Missense_Mutation_p.Q54K|CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	54										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTACCAATCTGCTCTTCATAA	0.343																																					p.C54S													.	.			0			c.T160A												158	157	157					11																	32739669		1821	4074	5895	SO:0001583	missense	493860	exon3			CAATCTGCTCTTC	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.160C>A	11.37:g.32739669G>T	ENSP00000335325:p.Gln54Lys		41	0	0		22	0.09	2	NM_001008391	0		0	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961827	0.53400	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	T	0.55194	0.1905	L	0.50333	1.59	0.32161	N	0.582984	B;P;D	0.55385	0.447;0.59;0.971	B;B;P	0.53401	0.202;0.275;0.725	T	0.60332	-0.7284	8	0.37606	T	0.19	.	15.4922	0.75615	0.0:0.0:1.0:0.0	.	54;54;54	A6H8Y7;Q6ZRK6-2;Q6ZRK6	.;.;CCD73_HUMAN	K	54	.	ENSP00000335325:Q54K	Q	-	1	0	CCDC73	32696245	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	5.109000	0.64615	2.793000	0.96121	0.655000	0.94253	CAG			0.343	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388874.2		NM_001008391		T	32739669	G	T	32739669	3	4	80	1	0	0	0	0	1	0	0	0	2848	1328	46	2	3143	2	CCDC73	11	32739669	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		32739669	102266847	41	5687											
MADD	8567	mdanderson.org	37	chr11	47296560	47296560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggcggggagccgctcccGcaacagtactctcacgtccc	8	5	11	17	4	1	0	1	0	1	0	4	1	3	1	3	3	3	3	3	3	3	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:47296560G>T	ENST00000311027.5	+	3	674	c.509G>T	c.(508-510)cGc>cTc	p.R170L	MADD_ENST00000349238.3_Missense_Mutation_p.R170L|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000395336.3_Missense_Mutation_p.R170L|MADD_ENST00000395344.3_Missense_Mutation_p.R170L|MADD_ENST00000402799.1_Missense_Mutation_p.R170L|MADD_ENST00000406482.1_Missense_Mutation_p.R170L|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000342922.4_Missense_Mutation_p.R170L|MADD_ENST00000402192.2_Missense_Mutation_p.R170L|MADD_ENST00000407859.3_Missense_Mutation_p.R170L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGCCGCTCCCGCAACAGTACT	0.602																																					p.R170L													MADD,colon,carcinoma,+1,1	MADD	1	1	0			c.G509T												67	70	69					11																	47296560		2201	4298	6499	SO:0001583	missense	8567	exon3			GCTCCCGCAACAG	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.509G>T	11.37:g.47296560G>T	ENSP00000310933:p.Arg170Leu		29	0	0		43	0.07	3	NM_001135944	24	0	0		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489119	0.96323	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06933	3.33;3.25;3.25;3.33;3.34;3.24;3.24;3.33;3.33	6.07	6.07	0.98685	.	0.051434	0.85682	N	0.000000	T	0.20941	0.0504	L	0.29908	0.895	0.80722	D	1	P;P;D;B;B;B;P;D;P;D	0.76494	0.899;0.683;0.994;0.269;0.269;0.269;0.601;0.999;0.889;0.995	P;B;D;B;B;B;B;D;P;D	0.85130	0.545;0.298;0.913;0.191;0.191;0.191;0.405;0.997;0.663;0.955	T	0.00842	-1.1544	9	.	.	.	-16.0216	20.6593	0.99626	0.0:0.0:1.0:0.0	.	170;170;170;170;170;170;170;170;170;170	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	170	ENSP00000343902:R170L;ENSP00000385585:R170L;ENSP00000384435:R170L;ENSP00000304505:R170L;ENSP00000310933:R170L;ENSP00000384204:R170L;ENSP00000378753:R170L;ENSP00000378745:R170L;ENSP00000384287:R170L	.	R	+	2	0	MADD	47253136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.885000	0.99019	0.655000	0.94253	CGC			0.602	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317746.1				T	47296560	G	T	47296560	3	4	80	1	0	0	0	0	1	0	0	0	9168	1087	38	1	515	1	MADD	11	47296560	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	14556891	47296560	87709956	42	5688											
SPTBN2	6712	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	66461270	66461270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcatgagaagctggacGctgggcaggtccttgccatg	7	11	13	10	1	2	1	1	1	1	1	3	3	3	2	2	3	2	3	2	3	1	3	rs149464236		TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:66461270G>T	ENST00000533211.1	-	23	4897	c.4566C>A	c.(4564-4566)agC>agA	p.S1522R	SPTBN2_ENST00000529997.1_Missense_Mutation_p.S1522R|SPTBN2_ENST00000309996.2_Missense_Mutation_p.S1522R			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1522					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						GAAGCTGGACGCTGGGCAGGT	0.572																																					p.S1522R													.	SPTBN2	188		0			c.C4566A												63	58	60					11																	66461270		2200	4295	6495	SO:0001583	missense	6712	exon22			CTGGACGCTGGGC	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.4566C>A	11.37:g.66461270G>T	ENSP00000432568:p.Ser1522Arg		76	0	0		93	0.05	5	NM_006946	54	0	0	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	g	14.03	2.413664	0.42817	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.53640	0.61;0.61;0.61	4.09	-6.16	0.02098	.	0.171581	0.48767	D	0.000177	T	0.51024	0.1650	L	0.52905	1.665	0.29301	N	0.868662	D	0.56746	0.977	P	0.57720	0.826	T	0.59532	-0.7437	10	0.54805	T	0.06	.	13.4713	0.61283	0.2266:0.0:0.6703:0.1031	.	1522	O15020	SPTN2_HUMAN	R	1522	ENSP00000432568:S1522R;ENSP00000311489:S1522R;ENSP00000433593:S1522R	ENSP00000311489:S1522R	S	-	3	2	SPTBN2	66217846	0.000000	0.05858	0.796000	0.32109	0.783000	0.44284	-2.348000	0.01094	-1.855000	0.01162	-2.433000	0.00214	AGC			0.572	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393892.2		NM_006946		T	66461270	G	T	66461270	3	4	80	1	0	0	0	0	1	0	0	0	15143	1078	38	1	2670	1	SPTBN2	11	66461270	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	19164710	66461270	68545246	43	5689											
CHKA	1119	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	67842260	67842260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgacctctctgcgagaatgGcaaacataacgctctccaga	12	8	9	12	2	2	3	0	1	2	2	4	4	2	3	2	1	3	2	2	1	3	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:67842260G>A	ENST00000265689.4	-	4	580	c.554C>T	c.(553-555)gCc>gTc	p.A185V	CHKA_ENST00000356135.5_Missense_Mutation_p.A167V	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	185					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	TGCGAGAATGGCAAACATAAC	0.493																																					p.A185V													.	.			0			c.C554T												124	113	116					11																	67842260		2200	4294	6494	SO:0001583	missense	1119	exon4			AGAATGGCAAACA	D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"choline kinase"	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.554C>T	11.37:g.67842260G>A	ENSP00000265689:p.Ala185Val		100	0	0		67	0.07	5	NM_001277	18	0	0	Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710043	0.89018	.	.	ENSG00000110721	ENST00000265689;ENST00000356135;ENST00000531341	T;T;T	0.57752	0.38;0.38;0.38	4.97	4.97	0.65823	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	T	0.82833	-0.0262	10	0.62326	D	0.03	-15.6671	18.423	0.90598	0.0:0.0:1.0:0.0	.	167;185	P35790-2;P35790	.;CHKA_HUMAN	V	185;167;63	ENSP00000265689:A185V;ENSP00000348454:A167V;ENSP00000435032:A63V	ENSP00000265689:A185V	A	-	2	0	CHKA	67598836	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.544000	0.98092	2.579000	0.87056	0.563000	0.77884	GCC			0.493	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000394570.1		NM_001277		A	67842260	G	A	67842260	3	1	80	1	0	0	0	0	1	0	0	0	3349	1203	42	2	855	2	CHKA	11	67842260	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	1380990	67842260	67164256	44	5690											
PDE2A	5138	mdanderson.org	37	chr11	72288535	72288535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagttgttacttgggaGgccgcggatggtgaacttgt	7	11	16	7	3	0	1	0	1	0	0	0	4	0	3	1	4	3	2	1	4	2	4	rs17854062		TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:72288535G>T	ENST00000334456.5	-	31	2964	c.2719C>A	c.(2719-2721)Ctc>Atc	p.L907I	PDE2A_ENST00000444035.2_Missense_Mutation_p.L898I|PDE2A_ENST00000376450.3_Missense_Mutation_p.L651I|PDE2A_ENST00000418754.2_Missense_Mutation_p.L792I|PDE2A_ENST00000540345.1_Missense_Mutation_p.L898I|PDE2A_ENST00000544570.1_Missense_Mutation_p.L900I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	907					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TTACTTGGGAGGCCGCGGATG	0.602																																					p.L907I													.	.			0			c.C2719A												133	105	114					11																	72288535		2200	4293	6493	SO:0001583	missense	5138	exon31			TTGGGAGGCCGCG	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2719C>A	11.37:g.72288535G>T	ENSP00000334910:p.Leu907Ile		50	0	0		25	0.08	2	NM_002599	41	0	0	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063248	0.55432	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000544570;ENST00000418754;ENST00000540345	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.65	5.65	0.86999	.	0.547984	0.16534	N	0.210239	T	0.79028	0.4377	L	0.27053	0.805	0.46061	D	0.998842	P;B;B;B;B;B	0.47962	0.903;0.029;0.029;0.023;0.029;0.004	D;B;B;B;B;B	0.63793	0.918;0.025;0.025;0.037;0.025;0.012	T	0.77493	-0.2567	10	0.56958	D	0.05	.	9.1196	0.36780	0.1545:0.0:0.8455:0.0	rs17854062	792;907;898;900;907;651	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	I	907;651;898;900;792;898	ENSP00000334910:L907I;ENSP00000365633:L651I;ENSP00000411657:L898I;ENSP00000442256:L900I;ENSP00000410310:L792I;ENSP00000446399:L898I	ENSP00000334910:L907I	L	-	1	0	PDE2A	71966183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.811000	0.47986	2.824000	0.97209	0.655000	0.94253	CTC			0.602	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219839.2		NM_002599		T	72288535	G	T	72288535	3	4	80	1	0	0	0	0	1	0	0	0	11653	1000	35	3	110	3	PDE2A	11	72288535	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	4446275	72288535	62717981	45	5691											
CHORDC1	26973	mdanderson.org	37	chr11	89935586	89935586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcccactcaatctgttgtgGcatctttttgtttttcctgc	4	19	6	12	0	3	0	1	0	2	0	5	0	5	0	2	1	1	3	2	1	1	5	rs1045861	byFrequency	TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:89935586G>C	ENST00000320585.6	-	11	1395	c.986C>G	c.(985-987)gCc>gGc	p.A329G	CHORDC1_ENST00000457199.2_Missense_Mutation_p.A310G|CHORDC1_ENST00000529987.1_Missense_Mutation_p.A141G|CHORDC1_ENST00000529726.1_Missense_Mutation_p.A141G	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	329			A -> D (in dbSNP:rs1045861). {ECO:0000269|PubMed:10571178, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2, ECO:0000269|Ref.5}.		chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				ATCTGTTGTGGCATCTTTTTG	0.403																																					p.A329G													.	.			0			c.C986G												126	105	112					11																	89935586		2200	4298	6498	SO:0001583	missense	26973	exon11			GTTGTGGCATCTT	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1", "cysteine and histidine-rich domain (CHORD)-containing 1"			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.986C>G	11.37:g.89935586G>C	ENSP00000319255:p.Ala329Gly		116	0	0		74	0.03	2	NM_012124	122	0	0	B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	T	0.074	-1.196709	0.01594	.	.	ENSG00000110172	ENST00000320585;ENST00000529987;ENST00000457199;ENST00000529726	T;T;T;T	0.44881	0.92;0.91;0.91;0.91	5.24	4.08	0.47627	HSP20-like chaperone (1);	1.095060	0.06902	N	0.806057	T	0.25791	0.0628	N	0.08118	0	0.09310	P	0.99999999876564	B;B	0.19817	0.039;0.001	B;B	0.16289	0.015;0.004	T	0.31613	-0.9937	8	.	.	.	0.1129	11.064	0.47964	0.0:0.0:0.2982:0.7018	.	310;329	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	G	329;141;310;141	ENSP00000319255:A329G;ENSP00000433719:A141G;ENSP00000401080:A310G;ENSP00000436632:A141G	.	A	-	2	0	CHORDC1	89575234	0.036000	0.19791	0.718000	0.30602	0.172000	0.22775	1.500000	0.35682	0.292000	0.22492	-0.262000	0.10625	GCC			0.403	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394111.1		NM_012124		C	89935586	G	C	89935586	3	2	80	1	0	0	0	0	1	0	0	0	3367	1203	42	5	16	5	CHORDC1	11	89935586	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	17647051	89935586	45070930	46	5692											
MMP3	4314	mdanderson.org	37	chr11	102711321	102711321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcaacgagaaataaattgGtccctatttaagaaattgag	17	10	8	6	1	0	3	0	1	0	2	1	4	1	3	1	1	2	1	1	1	7	6			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:102711321G>T	ENST00000299855.5	-	5	885	c.629C>A	c.(628-630)aCc>aAc	p.T210N		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)	AAATAAATTGGTCCCTATTTA	0.388																																					p.T210N													.	.			0			c.C629A												75	75	75					11																	102711321		2203	4299	6502	SO:0001583	missense	4314	exon5			AAATTGGTCCCTA	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.629C>A	11.37:g.102711321G>T	ENSP00000299855:p.Thr210Asn		80	0	0		38	0.08	3	NM_002422	0		0	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446632	0.25987	.	.	ENSG00000149968	ENST00000299855	T	0.21932	1.98	4.98	-0.485	0.12067	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.216660	0.06490	N	0.734413	T	0.36608	0.0973	L	0.58925	1.835	0.09310	N	1	P	0.47545	0.897	P	0.59761	0.863	T	0.33828	-0.9853	10	0.66056	D	0.02	.	7.4648	0.27316	0.4036:0.0:0.4934:0.103	.	210	P08254	MMP3_HUMAN	N	210	ENSP00000299855:T210N	ENSP00000299855:T210N	T	-	2	0	MMP3	102216531	0.000000	0.05858	0.946000	0.38457	0.310000	0.27922	-0.773000	0.04689	-0.202000	0.10268	-1.119000	0.02030	ACC			0.388	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109758.2		NM_002422		T	102711321	G	T	102711321	3	4	80	1	0	0	0	0	1	0	0	0	9682	1261	44	3	828	3	MMP3	11	102711321	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	12775735	102711321	32295195	47	5693											
DYNC2H1	79659	mdanderson.org	37	chr11	103027467	103027467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcattgccaaaagaacaGacacgcttcaacagagttga	16	6	10	9	1	1	4	1	1	0	3	1	5	1	5	1	1	4	3	1	1	4	3			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:103027467G>T	ENST00000375735.2	+	26	4239	c.4095G>T	c.(4093-4095)caG>caT	p.Q1365H	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q1365H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1365	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)		CAAAAGAACAGACACGCTTCA	0.353																																					p.Q1365H													.	.			0			c.G4095T												57	57	57					11																	103027467		1846	4090	5936	SO:0001583	missense	79659	exon26			AGAACAGACACGC	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.4095G>T	11.37:g.103027467G>T	ENSP00000364887:p.Gln1365His		42	0	0		32	0.09	3	NM_001080463	0		0	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154496	0.38021	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.61392	0.11;0.11	5.27	2.37	0.29283	Dynein heavy chain, domain-2 (1);	0.543055	0.15709	N	0.248517	T	0.49304	0.1549	L	0.53671	1.685	0.35796	D	0.822758	B;B	0.32101	0.356;0.307	B;B	0.36030	0.213;0.216	T	0.53542	-0.8424	10	0.44086	T	0.13	.	4.5181	0.11945	0.3448:0.0:0.5058:0.1494	.	1365;1365	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	H	1365	ENSP00000364887:Q1365H;ENSP00000381167:Q1365H	ENSP00000364887:Q1365H	Q	+	3	2	DYNC2H1	102532677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.808000	0.38912	0.610000	0.30035	0.563000	0.77884	CAG			0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387196.1		XM_370652		T	103027467	G	T	103027467	3	4	80	1	0	0	0	0	1	0	0	0	4851	933	33	3	4197	3	DYNC2H1	11	103027467	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	316146	103027467	31979049	48	5694											
TMEM25	84866	mdanderson.org	37	chr11	118403027	118403027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaggccagcacctcaaGactgctgagcgtgggagggg	9	4	18	10	1	1	2	1	1	0	1	1	4	1	4	2	5	3	3	2	5	1	0			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:118403027G>T	ENST00000313236.5	+	3	286	c.233G>T	c.(232-234)aGa>aTa	p.R78I	TMEM25_ENST00000533102.1_Missense_Mutation_p.R78I|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000524725.1_Missense_Mutation_p.R78I|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000359862.4_Missense_Mutation_p.R78I|TMEM25_ENST00000442938.2_Missense_Mutation_p.R78I|TMEM25_ENST00000354284.4_Missense_Mutation_p.R78I|TMEM25_ENST00000544878.1_Missense_Mutation_p.R78I|TMEM25_ENST00000411589.2_Missense_Mutation_p.R78I|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000354064.7_Intron	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	78	Ig-like.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCACCTCAAGACTGCTGAGC	0.642																																					p.R78I													.	.			0			c.G233T												62	64	63					11																	118403027		2200	4295	6495	SO:0001583	missense	84866	exon3			CCTCAAGACTGCT	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"Immunoglobulin superfamily / C2-set domain containing"	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.233G>T	11.37:g.118403027G>T	ENSP00000315635:p.Arg78Ile		62	0	0		37	0.08	3	NM_001144038	13	0.08	1	A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	CCDS8398.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085844	0.76642	.	.	ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533137;ENST00000532762;ENST00000533102;ENST00000313236;ENST00000524725;ENST00000533689	T;T;T;T;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;-1.01;-1.01;-1.01;-1.01	5.07	4.16	0.48862	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.260127	0.35838	N	0.002955	T	0.76357	0.3976	L	0.29908	0.895	0.42590	D	0.993248	P;P;P;P;P;P;D;P	0.55800	0.514;0.773;0.57;0.896;0.729;0.874;0.973;0.514	B;P;P;P;B;B;P;B	0.57679	0.283;0.503;0.507;0.503;0.284;0.369;0.825;0.283	T	0.77469	-0.2576	10	0.66056	D	0.02	-4.1068	9.2849	0.37751	0.1001:0.0:0.8999:0.0	.	78;78;78;78;78;78;78;78	F5H294;Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-2	.;TMM25_HUMAN;.;.;.;.;.;.	I	78;78;78;78;78;78;46;78;78;78;78;78	ENSP00000411882:R78I;ENSP00000416071:R78I;ENSP00000352924:R78I;ENSP00000432040:R78I;ENSP00000439408:R78I;ENSP00000346237:R78I;ENSP00000433938:R46I;ENSP00000433906:R78I;ENSP00000431548:R78I;ENSP00000315635:R78I;ENSP00000431205:R78I;ENSP00000436746:R78I	ENSP00000315635:R78I	R	+	2	0	TMEM25	117908237	0.054000	0.20591	0.887000	0.34795	0.992000	0.81027	2.479000	0.45197	1.130000	0.42092	0.561000	0.74099	AGA			0.642	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389266.1		NM_032780		T	118403027	G	T	118403027	3	4	80	1	0	0	0	0	1	0	0	0	16173	942	33	3	239	3	TMEM25	11	118403027	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	15375560	118403027	16603489	49	5695											
VPS26B	112936	mdanderson.org	37	chr11	134114860	134114860	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccgatccggctcttcctGgccgggtatgagctcacgcc	5	9	11	16	4	2	1	1	1	1	0	5	2	5	1	5	3	1	3	5	3	1	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr11:134114860G>T	ENST00000281187.5	+	5	1228	c.750G>T	c.(748-750)ctG>ctT	p.L250L	VPS26B_ENST00000525095.2_Silent_p.L250L	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	250					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GGCTCTTCCTGGCCGGGTATG	0.597											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L250L	Colon(171;1263 1952 15904 45703 47982)												.	.			0			c.G750T												71	66	68					11																	134114860		2201	4297	6498	SO:0001819	synonymous_variant	112936	exon5			CTTCCTGGCCGGG		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.750G>T	11.37:g.134114860G>T			45	0	0	1608	26	0.12	3	NM_052875	82	0	0	Q96A55	Silent	SNP	ENST00000281187.5	37	CCDS8495.1																																																																																					0.597	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393591.1		NM_052875		T	134114860	G	T	134114860	2	4	80	1	0	0	0	0	0	0	0	1	17222	1335	47	3		3	VPS26B	11	134114860	Silent	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	15711833	134114860	891656	50	5696											
GPR162	27239	hgsc.bcm.edu	37	chr12	6935869	6935869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacaaacatcttctctaccCctcgggaaccaggctccttc	10	9	6	16	1	2	1	0	0	2	1	6	2	3	2	4	2	3	1	4	2	3	3			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr12:6935869C>T	ENST00000311268.3	+	5	2054	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	GPR162_ENST00000428545.2_Missense_Mutation_p.P139S|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.P119S|LEPREL2_ENST00000606935.1_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	423						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CTTCTCTACCCCTCGGGAACC	0.617																																					p.P423S													GPR162,caecum,carcinoma,0,1	GPR162	0	1	0			c.C1267T												103	115	111					12																	6935869		2203	4300	6503	SO:0001583	missense	27239	exon5			TCTACCCCTCGGG	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1267C>T	12.37:g.6935869C>T	ENSP00000311528:p.Pro423Ser		80	0	0		96	0.04	4	NM_019858	9	0	0	Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094990	0.56075	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.41065	3.17;1.01;1.01	5.1	5.1	0.69264	.	.	.	.	.	T	0.43853	0.1266	L	0.36672	1.1	0.37974	D	0.933386	D;P	0.54964	0.969;0.608	P;B	0.48677	0.586;0.19	T	0.37957	-0.9683	9	0.33940	T	0.23	.	18.6917	0.91585	0.0:1.0:0.0:0.0	.	139;423	Q16538-2;Q16538	.;GP162_HUMAN	S	423;139;119	ENSP00000311528:P423S;ENSP00000399670:P139S;ENSP00000371752:P119S	ENSP00000311528:P423S	P	+	1	0	GPR162	6806130	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.041000	0.57339	2.652000	0.90054	0.561000	0.74099	CCT			0.617	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399478.1		NM_019858		T	6935869	C	T	6935869	3	4	80	1	0	0	0	0	1	0	0	0	6680	623	22	3	1300	3	GPR162	12	6935869	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10		6935869	126916026	51	5697											
STRAP	11171	mdanderson.org	37	chr12	16036515	16036515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagggagatacaggagactgGattggaacatttttgggtca	12	10	14	5	0	1	2	1	0	0	2	1	6	1	4	0	5	2	0	0	5	2	4			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr12:16036515G>T	ENST00000419869.2	+	2	466	c.153G>T	c.(151-153)tgG>tgT	p.W51C	STRAP_ENST00000025399.6_Missense_Mutation_p.W64C|STRAP_ENST00000538352.1_Intron	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	51					maintenance of gastrointestinal epithelium (GO:0030277)|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 pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CAGGAGACTGGATTGGAACAT	0.388																																					p.W51C													.	.			0			c.G153T												89	78	81					12																	16036515		2203	4300	6503	SO:0001583	missense	11171	exon2			AGACTGGATTGGA	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.153G>T	12.37:g.16036515G>T	ENSP00000392270:p.Trp51Cys		43	0	0		46	0.07	3	NM_007178	419	0	0	B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250319	0.80024	.	.	ENSG00000023734	ENST00000025399;ENST00000419869	T;T	0.80393	-1.37;-1.37	4.39	4.39	0.52855	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	0.78220	0.4249	N	0.03903	-0.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83025	-0.0165	10	0.42905	T	0.14	-4.3811	17.5463	0.87863	0.0:0.0:1.0:0.0	.	64;51	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	C	64;51	ENSP00000025399:W64C;ENSP00000392270:W51C	ENSP00000025399:W64C	W	+	3	0	STRAP	15927782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.595000	0.98260	2.436000	0.82500	0.655000	0.94253	TGG			0.388	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401114.1		NM_007178		T	16036515	G	T	16036515	3	4	80	1	0	0	0	0	1	0	0	0	15349	1183	41	3	159	3	STRAP	12	16036515	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	9100646	16036515	117815380	52	5698											
MSRB3	253827	hgsc.bcm.edu;mdanderson.org	37	chr12	65672601	65672601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctctgcctctccctctGcctctgcctctgcctggccg	0	12	8	21	2	5	0	0	0	5	0	7	0	5	0	6	1	4	1	6	1	0	0	rs377713148		TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr12:65672601G>C	ENST00000355192.3	+	1	179	c.53G>C	c.(52-54)tGc>tCc	p.C18S	MSRB3_ENST00000540804.1_Missense_Mutation_p.C18S|RP11-305O6.3_ENST00000545709.1_RNA|MSRB3_ENST00000535664.1_5'UTR|MSRB3_ENST00000308259.5_5'UTR|MSRB3_ENST00000538725.1_3'UTR	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	18					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ctctccctctgcctctgcctc	0.731																																					p.C18S													.	.			0			c.G53C												19	17	18					12																	65672601		2164	4234	6398	SO:0001583	missense	253827	exon1			CCCTCTGCCTCTG	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.53G>C	12.37:g.65672601G>C	ENSP00000347324:p.Cys18Ser		108	0	0		127	0.05	6	NM_198080	5	0	0	B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976760	0.53720	.	.	ENSG00000174099	ENST00000355192;ENST00000540804	T;T	0.62498	0.05;0.02	.	.	.	.	521.918000	0.00166	N	0.000000	T	0.41282	0.1152	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	7	.	.	.	.	.	.	.	.	18	Q8IXL7	MSRB3_HUMAN	S	18	ENSP00000347324:C18S;ENSP00000437623:C18S	.	C	+	2	0	MSRB3	63958868	0.947000	0.32204	0.951000	0.38953	0.832000	0.47134	0.829000	0.27449	0.119000	0.18210	0.121000	0.15741	TGC			0.731	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000401421.1		NM_198080		C	65672601	G	C	65672601	3	2	80	1	0	0	0	0	1	0	0	0	9905	1319	46	5	55	5	MSRB3	12	65672601	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	49636086	65672601	68179294	53	5699											
GLTP	51228	mdanderson.org	37	chr12	110318081	110318081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccattccggctcaccgaaGaagggcggcaggtgggacac	9	5	14	13	3	1	1	1	0	0	1	3	3	3	2	3	5	0	2	3	5	2	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr12:110318081G>T	ENST00000318348.4	-	1	212	c.99C>A	c.(97-99)ttC>ttA	p.F33L	RP1-7G5.6_ENST00000446473.2_lincRNA|GLTP_ENST00000544393.1_Missense_Mutation_p.F33L	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	33					glycolipid transport (GO:0046836)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|lipid binding (GO:0008289)			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GCTCACCGAAGAAGGGCGGCA	0.677																																					p.F33L													.	.			0			c.C99A												22	23	23					12																	110318081		2200	4296	6496	SO:0001583	missense	51228	exon1			ACCGAAGAAGGGC	AF209704, AY372530	CCDS9136.1	12q24.11	2008-08-08			ENSG00000139433	ENSG00000139433			24867	protein-coding gene	gene with protein product		608949				15287756, 15901739	Standard	NM_016433		Approved		uc001tpm.3	Q9NZD2	OTTHUMG00000169278	ENST00000318348.4:c.99C>A	12.37:g.110318081G>T	ENSP00000315263:p.Phe33Leu		26	0	0		35	0.09	3	NM_016433	51	0	0	Q53Z13|Q96J68	Missense_Mutation	SNP	ENST00000318348.4	37	CCDS9136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.15|19.15	3.771438|3.771438	0.69992|0.69992	.|.	.|.	ENSG00000139433|ENSG00000139433	ENST00000318348;ENST00000544393|ENST00000540772	.|.	.|.	.|.	4.49|4.49	4.49|4.49	0.54785|0.54785	Glycolipid transfer protein domain (3);|.	0.051282|.	0.85682|.	D|.	0.000000|.	T|T	0.41534|0.41534	0.1163|0.1163	N|N	0.13299|0.13299	0.325|0.325	0.49299|0.49299	D|D	0.999779|0.999779	B|.	0.10296|.	0.003|.	B|.	0.12837|.	0.008|.	T|T	0.27088|0.27088	-1.0084|-1.0084	9|5	0.05721|.	T|.	0.95|.	.|.	13.1305|13.1305	0.59380|0.59380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	33|.	Q9NZD2|.	GLTP_HUMAN|.	L|Y	33|17	.|.	ENSP00000315263:F33L|.	F|S	-|-	3|2	2|0	GLTP|GLTP	108802464|108802464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	1.885000|1.885000	0.39678|0.39678	2.230000|2.230000	0.72887|0.72887	0.459000|0.459000	0.35465|0.35465	TTC|TCT			0.677	GLTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403278.2		NM_016433		T	110318081	G	T	110318081	3	4	80	1	0	0	0	0	1	0	0	0	6485	933	33	3	550	3	GLTP	12	110318081	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	44645480	110318081	23533814	54	5700											
C12orf51	283450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	112605270	112605270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgaattgcaatccccaGcagctgccccaggaagtgca	10	6	10	15	1	0	0	0	0	0	0	1	2	1	1	5	1	6	4	5	1	3	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr12:112605270G>A	ENST00000430131.2	-	71	12264	c.11119C>T	c.(11119-11121)Ctg>Ttg	p.L3707L	HECTD4_ENST00000377560.5_Silent_p.L3957L|HECTD4_ENST00000550722.1_Silent_p.L3983L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3707	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)										GCAATCCCCAGCAGCTGCCCC	0.642																																					p.L3995L													.	.			0			c.C11983T												46	52	50					12																	112605270		1981	4143	6124	SO:0001819	synonymous_variant	283450	exon72			TCCCCAGCAGCTG	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.11119C>T	12.37:g.112605270G>A			99	0	0		91	0.21	19	NM_001109662	99	0.3	30	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																						0.642	HECTD4-202	KNOWN	basic	protein_coding	protein_coding				NM_173813		A	112605270	G	A	112605270	2	1	80	1	0	0	0	0	0	0	0	1	1698	962	34	2		2	C12orf51	12	112605270	Silent	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	2287189	112605270	21246625	55	5701											
RBM19	9904	mdanderson.org	37	chr12	114374911	114374911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagaagacgccaactggagCccactccagatagaggggga	13	3	15	10	1	0	4	0	0	0	4	1	7	1	6	3	4	2	0	3	4	3	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr12:114374911C>T	ENST00000545145.2	-	16	2047	c.1969G>A	c.(1969-1971)Gct>Act	p.A657T	RBM19_ENST00000392561.3_Missense_Mutation_p.A657T|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.A657T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	657	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCAACTGGAGCCCACTCCAGA	0.547																																					p.A657T													.	.			0			c.G1969A												106	106	106					12																	114374911		2203	4300	6503	SO:0001583	missense	9904	exon16			CTGGAGCCCACTC	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1969G>A	12.37:g.114374911C>T	ENSP00000442053:p.Ala657Thr		111	0	0		115	0.04	5	NM_001146699	42	0	0	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272705	0.95429	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.08634	3.07;3.07;3.07	4.8	4.8	0.61643	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	H	0.98155	4.16	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.68800	-0.5313	10	0.87932	D	0	-11.8045	16.8661	0.86029	0.0:1.0:0.0:0.0	.	657	Q9Y4C8	RBM19_HUMAN	T	657	ENSP00000442053:A657T;ENSP00000376344:A657T;ENSP00000261741:A657T	ENSP00000261741:A657T	A	-	1	0	RBM19	112859294	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.869000	0.75521	2.222000	0.72286	0.655000	0.94253	GCT			0.547	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405251.1		NM_016196		T	114374911	C	T	114374911	3	4	80	1	0	0	0	0	1	0	0	0	13144	739	26	2	949	2	RBM19	12	114374911	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	1769641	114374911	19476984	56	5702											
RPLP0	6175	broad.mit.edu	37	chr12	120634654	120634654	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccttagctggggctgcAgcagcagcaggagcagctgt	9	7	14	11	0	1	0	1	0	0	0	1	1	1	1	1	3	8	8	1	3	2	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr12:120634654A>T	ENST00000551150.1	-	7	1191	c.876T>A	c.(874-876)gcT>gcA	p.A292A	RPLP0_ENST00000313104.5_Silent_p.A230A|RPLP0_ENST00000546989.1_Silent_p.A256A|RPLP0_ENST00000552292.1_Silent_p.A82A|GCN1L1_ENST00000300648.6_5'Flank|RPLP0_ENST00000228306.4_Silent_p.A292A|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000392514.4_Silent_p.A292A			P05388	RLA0_HUMAN	ribosomal protein, large, P0	292					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)|ribosome biogenesis (GO:0042254)|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)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGGGCTgcagcagcagcag	0.552																																					p.A292A													.	RPLP0	27		0			c.T876A												21	23	22					12																	120634654		2186	4241	6427	SO:0001819	synonymous_variant	6175	exon8			GGCTGCAGCAGCA	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.876T>A	12.37:g.120634654A>T			263	0	0		313	0.01	4	NM_053275	11730	0	7	Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	CCDS9193.1																																																																																					0.552	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403448.3		NM_053275		T	120634654	A	T	120634654	2	4	80	1	0	0	0	0	0	0	0	1	13627	175	7	5		5	RPLP0	12	120634654	Silent	SNP	A	TCGA-2X-A9D5-01A-11D-A435-10	6259743	120634654	13217241	57	5703											
PCDH8	5100	mdanderson.org	37	chr13	53420269	53420269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggtggcgatggcgAtgatggcggccagcagcagc	7	6	19	9	3	0	1	0	1	0	0	0	3	0	1	1	6	4	3	1	6	0	0			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr13:53420269A>G	ENST00000377942.3	-	1	2506	c.2303T>C	c.(2302-2304)aTc>aCc	p.I768T	PCDH8_ENST00000338862.4_Missense_Mutation_p.I768T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	768					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)		GGCGATGGCGATGATGGCGGC	0.721																																					p.I768T	GBM(36;25 841 9273 49207)												.	.			0			c.T2303C												22	32	29					13																	53420269		2061	4098	6159	SO:0001583	missense	5100	exon1			ATGGCGATGATGG	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.2303T>C	13.37:g.53420269A>G	ENSP00000367177:p.Ile768Thr		27	0	0		16	0.19	3	NM_002590	0		0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.058833	0.76074	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.55588	0.51;0.58	4.49	4.49	0.54785	.	0.000000	0.44902	D	0.000401	T	0.57989	0.2091	L	0.29908	0.895	0.48632	D	0.999682	D;D	0.69078	0.988;0.997	P;P	0.62382	0.871;0.901	T	0.63346	-0.6658	10	0.87932	D	0	.	13.9673	0.64216	1.0:0.0:0.0:0.0	.	768;768	O95206-2;O95206	.;PCDH8_HUMAN	T	768;768;294;611	ENSP00000367177:I768T;ENSP00000341350:I768T	ENSP00000341350:I768T	I	-	2	0	PCDH8	52318270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.737000	0.91562	1.879000	0.54435	0.533000	0.62120	ATC			0.721	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045108.2		NM_002590		G	53420269	A	G	53420269	3	3	80	1	0	0	0	0	1	0	0	0	11534	333	12	4	921	4	PCDH8	13	53420269	Missense_Mutation	SNP	A	TCGA-2X-A9D5-01A-11D-A435-10		53420269	61749609	58	5704											
FANCM	57697	mdanderson.org	37	chr14	45606273	45606273	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtcacttttattttcaggGtctacacaagcttccaccag	10	14	6	11	0	3	0	2	0	1	0	4	0	4	0	2	1	2	1	2	1	3	6			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr14:45606273G>T	ENST00000267430.5	+	2	595	c.510G>T	c.(508-510)ggG>ggT	p.G170G	FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000542564.2_Splice_Site_p.G170G|FKBP3_ENST00000396062.3_5'Flank|FANCM_ENST00000556036.1_Splice_Site_p.G170G	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	170	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TATTTTCAGGGTCTACACAAG	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.G170G													.	.			0			c.G510T												90	93	92					14																	45606273		2203	4300	6503	SO:0001630	splice_region_variant	57697	exon2	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TTCAGGGTCTACA	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.509-1G>T	14.37:g.45606273G>T			48	0.0416666667	2		38	0.08	3	NM_020937	13	0	0	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	CCDS32070.1																																																																																					0.373	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000410474.1		XM_048128	Silent	T	45606273	G	T	45606273	5	4	80	1	0	0	0	0	0	0	1	0	5684	1275	44	3	516	3	FANCM	14	45606273	Splice_Site	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		45606273	61743267	59	5705											
PLEKHH1	57475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	68044798	68044798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcggtggactaccatgtgtCcctggcccagaccgcactgc	6	8	11	16	2	0	1	0	0	0	1	2	2	1	2	4	3	2	1	4	3	1	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr14:68044798C>T	ENST00000329153.5	+	19	2765	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	878	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TACCATGTGTCCCTGGCCCAG	0.622																																					p.S878F													.	.			0			c.C2633T												86	88	87					14																	68044798		2164	4269	6433	SO:0001583	missense	57475	exon19			ATGTGTCCCTGGC	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2633C>T	14.37:g.68044798C>T	ENSP00000330278:p.Ser878Phe		116	0	0		150	0.21	32	NM_020715	83	0.25	21	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933586	0.92458	.	.	ENSG00000054690	ENST00000329153	D	0.92048	-2.96	5.14	5.14	0.70334	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.80028	2.48	0.80722	D	1	D	0.54601	0.967	D	0.70227	0.968	D	0.96261	0.9191	10	0.66056	D	0.02	.	18.7908	0.91973	0.0:1.0:0.0:0.0	.	878	Q9ULM0	PKHH1_HUMAN	F	878	ENSP00000330278:S878F	ENSP00000330278:S878F	S	+	2	0	PLEKHH1	67114551	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.320000	0.79064	2.665000	0.90641	0.655000	0.94253	TCC			0.622	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412730.3		XM_031054		T	68044798	C	T	68044798	3	4	80	1	0	0	0	0	1	0	0	0	12093	855	30	3	2703	3	PLEKHH1	14	68044798	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	22438525	68044798	39304742	60	5706											
CCDC64B	146439	mdanderson.org	37	chr16	3080718	3080718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccctgcagactctccagCcgcgtcctcagctctgctcc	4	9	7	21	2	3	1	1	0	2	1	7	1	6	1	6	0	4	3	6	0	0	0			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr16:3080718C>T	ENST00000572449.1	-	4	656	c.594G>A	c.(592-594)cgG>cgA	p.R198R	CCDC64B_ENST00000389347.4_Silent_p.R198R|CCDC64B_ENST00000573514.1_5'UTR|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	198										breast(1)|endometrium(2)|large_intestine(1)	4						GACTCTCCAGCCGCGTCCTCA	0.657																																					p.R198R													.	.			0			c.G594A												22	26	25					16																	3080718		1990	4161	6151	SO:0001819	synonymous_variant	146439	exon3			CTCCAGCCGCGTC	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.594G>A	16.37:g.3080718C>T			56	0	0		46	0.07	3	NM_001103175	1	0	0	Q658L9	Silent	SNP	ENST00000572449.1	37	CCDS45393.1																																																																																					0.657	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436991.1				T	3080718	C	T	3080718	2	4	80	1	0	0	0	0	0	0	0	1	2838	726	26	2		2	CCDC64B	16	3080718	Silent	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10		3080718	87274035	61	5707											
KIAA0430	9665	broad.mit.edu;mdanderson.org	37	chr16	15719657	15719657	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagagcagagtgtggcactGctaatacagaggaaagaagt	16	7	13	5	0	0	4	0	0	0	4	0	5	0	5	0	2	3	3	0	2	5	3			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr16:15719657G>A	ENST00000396368.3	-	8	1731	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	KIAA0430_ENST00000548025.1_Splice_Site_p.Q506*|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000344181.3_Splice_Site_p.Q331*|KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000602337.1_Splice_Site_p.Q506*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	509					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTGTGGCACTGCTAATACAGA	0.433																																					p.Q509X													.	KIAA0430	154		0			c.C1525T												71	65	67					16																	15719657		1906	4127	6033	SO:0001630	splice_region_variant	9665	exon8			GGCACTGCTAATA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1525-1C>T	16.37:g.15719657G>A			36	0	0		37	0.35	13	NM_014647	20	0.15	3	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Splice_Site	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	35	5.470514	0.96274	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551298	.	.	.	5.43	5.43	0.79202	.	0.211651	0.40385	N	0.001112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	15.1345	0.72552	0.0:0.1823:0.8177:0.0	.	.	.	.	X	509;508;331;506;509	.	ENSP00000315718:Q508X	Q	-	1	0	KIAA0430	15627158	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.667000	0.68067	2.537000	0.85549	0.591000	0.81541	CAG			0.433	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252131.2		NM_014647	Nonsense_Mutation	A	15719657	G	A	15719657	5	1	80	1	0	0	0	0	0	0	1	0	8192	1333	46	2	3786	2	KIAA0430	16	15719657	Splice_Site	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	12638939	15719657	74635096	62	5708											
PDP2	57546	mdanderson.org	37	chr16	66918754	66918754	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgctgcccatcctgcattgGctcaagcacccaggggacag	8	8	11	14	0	1	0	1	0	0	0	2	1	2	1	3	3	4	4	3	3	1	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr16:66918754G>A	ENST00000311765.2	+	2	901	c.567G>A	c.(565-567)tgG>tgA	p.W189*	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	189					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCCTGCATTGGCTCAAGCACC	0.517																																					p.W189X													.	.			0			c.G567A												106	76	86					16																	66918754		2200	4300	6500	SO:0001587	stop_gained	57546	exon2			GCATTGGCTCAAG	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.567G>A	16.37:g.66918754G>A	ENSP00000309548:p.Trp189*		82	0	0		46	0.07	3	NM_020786	7	0	0	A8K924	Nonsense_Mutation	SNP	ENST00000311765.2	37	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267491	0.80469	.	.	ENSG00000172840	ENST00000311765	.	.	.	5.72	5.72	0.89469	.	0.063065	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5025	20.2516	0.98409	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000309548:W189X	W	+	3	0	PDP2	65476255	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.778000	0.99011	2.867000	0.98391	0.637000	0.83480	TGG			0.517	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268831.2		NM_020786		A	66918754	G	A	66918754	4	1	80	1	0	0	0	0	0	1	0	0	11703	1212	42	2	569	2	PDP2	16	66918754	Nonsense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	51199097	66918754	23435999	63	5709											
SCRN2	90507	mdanderson.org	37	chr17	45915296	45915296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggcccactcgccggccaGcagcccctgtgtggcctcga	4	6	14	17	3	0	0	0	0	0	0	2	1	0	0	6	4	2	1	6	4	0	0			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr17:45915296G>A	ENST00000290216.9	-	8	1317	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	SCRN2_ENST00000407215.3_3'UTR|SCRN2_ENST00000584123.1_Silent_p.L406L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	398						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TCGCCGGCCAGCAGCCCCTGT	0.632																																					p.L398L													.	.			0			c.C1192T												25	27	26					17																	45915296		2203	4300	6503	SO:0001819	synonymous_variant	90507	exon8			CGGCCAGCAGCCC	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1192C>T	17.37:g.45915296G>A			36	0	0		31	0.1	3	NM_138355	36	0	0	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	37	CCDS11519.1																																																																																					0.632	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441383.1		NM_138355		A	45915296	G	A	45915296	2	1	80	1	0	0	0	0	0	0	0	1	13962	962	34	2		2	SCRN2	17	45915296	Silent	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		45915296	35279914	64	5710											
HGS	9146	mdanderson.org	37	chr17	79663412	79663412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgaggggctgcaggacaaGctggcacagatccgcgatgc	10	6	15	10	2	0	2	0	1	0	1	1	4	1	3	1	4	3	4	1	4	2	1			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr17:79663412G>T	ENST00000329138.4	+	16	1554	c.1419G>T	c.(1417-1419)aaG>aaT	p.K473N		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	473	Interaction with SNAP25 and TRAK2. {ECO:0000250}.|Interaction with SNX1. {ECO:0000250}.|Interaction with STAM1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGCAGGACAAGCTGGCACAGA	0.672																																					p.K473N													.	.			0			c.G1419T												22	25	24					17																	79663412		2194	4283	6477	SO:0001583	missense	9146	exon16			GGACAAGCTGGCA	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1419G>T	17.37:g.79663412G>T	ENSP00000331201:p.Lys473Asn		50	0	0		46	0.07	3	NM_004712	128	0	0	Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881605	0.72294	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.09445	2.98	4.78	3.81	0.43845	Hepatocyte growth factor-regulated tyrosine kinase substrate, helical domain (1);	0.152649	0.56097	D	0.000034	T	0.24431	0.0592	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.00880	-1.1529	10	0.87932	D	0	-52.2692	6.9306	0.24439	0.2783:0.0:0.7217:0.0	.	473	O14964	HGS_HUMAN	N	473	ENSP00000331201:K473N	ENSP00000331201:K473N	K	+	3	2	HGS	77273817	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.190000	0.42630	1.136000	0.42199	0.579000	0.79373	AAG			0.672	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440541.1		NM_004712		T	79663412	G	T	79663412	3	4	80	1	0	0	0	0	1	0	0	0	7102	962	34	2	1481	2	HGS	17	79663412	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	33748116	79663412	1531798	65	5711											
SSBP4	170463	mdanderson.org	37	chr19	18541711	18541711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggtgacacaatggccGcaggctccatggcggctggc	7	5	14	15	2	0	1	0	1	0	0	1	1	1	1	4	6	0	3	4	6	1	0			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr19:18541711G>A	ENST00000270061.7	+	5	634	c.340G>A	c.(340-342)Gca>Aca	p.A114T	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Missense_Mutation_p.A114T|SSBP4_ENST00000599699.2_5'Flank	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	114						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.A114T(1)		endometrium(2)|kidney(1)|skin(1)	4						CACAATGGCCGCAGGCTCCAT	0.662																																					p.A114T													SSBP4,NS,carcinoma,0,1	SSBP4	0	1	1	Substitution - Missense(1)	endometrium(1)	c.G340A												31	33	32					19																	18541711		2203	4299	6502	SO:0001583	missense	170463	exon5			ATGGCCGCAGGCT		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.340G>A	19.37:g.18541711G>A	ENSP00000270061:p.Ala114Thr		39	0	0		26	0.08	2	NM_001009998	200	0	0	Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777053	0.31411	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	2.64	1.54	0.23209	.	0.167223	0.36628	U	0.002484	T	0.34687	0.0906	L	0.29908	0.895	0.33712	D	0.615875	B;B	0.12630	0.003;0.006	B;B	0.13407	0.009;0.005	T	0.28459	-1.0043	9	0.33141	T	0.24	.	6.9326	0.24449	0.0:0.0:0.7039:0.2961	.	114;114	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	T	114	.	ENSP00000270061:A114T	A	+	1	0	SSBP4	18402711	1.000000	0.71417	0.990000	0.47175	0.380000	0.30137	3.240000	0.51368	0.368000	0.24481	0.561000	0.74099	GCA			0.662	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000466348.3		NM_032627		A	18541711	G	A	18541711	3	1	80	1	0	0	0	0	1	0	0	0	15205	1087	38	1	358	1	SSBP4	19	18541711	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		18541711	40587272	66	5712											
LRFN1	57622	mdanderson.org	37	chr19	39805736	39805736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggcgaagtctcggcggcGcacggcggcgatgaagttgt	6	8	18	9	7	1	1	0	1	1	0	2	3	1	1	0	5	0	3	0	5	2	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr19:39805736G>T	ENST00000248668.4	-	1	240	c.241C>A	c.(241-243)Cgc>Agc	p.R81S	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	81						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCTCGGCGGCGCACGGCGGCG	0.677																																					p.R81S													.	.			0			c.C241A												10	13	12					19																	39805736		2161	4249	6410	SO:0001583	missense	57622	exon1			GGCGGCGCACGGC	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.241C>A	19.37:g.39805736G>T	ENSP00000248668:p.Arg81Ser		19	0	0		14	0.14	2	NM_020862	18	0	0	Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268984	0.40095	.	.	ENSG00000128011	ENST00000248668	T	0.56275	0.47	4.43	3.36	0.38483	.	0.000000	0.40640	N	0.001055	T	0.42944	0.1225	L	0.46670	1.46	0.58432	D	0.999999	B	0.30068	0.267	B	0.32289	0.143	T	0.18147	-1.0346	10	0.12766	T	0.61	.	11.8672	0.52501	0.0:0.1783:0.8216:0.0	.	81	Q9P244	LRFN1_HUMAN	S	81	ENSP00000248668:R81S	ENSP00000248668:R81S	R	-	1	0	LRFN1	44497576	1.000000	0.71417	0.939000	0.37840	0.885000	0.51271	2.433000	0.44793	1.032000	0.39892	0.557000	0.71058	CGC			0.677	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463835.1		NM_020862		T	39805736	G	T	39805736	3	4	80	1	0	0	0	0	1	0	0	0	8953	1087	38	1	2082	1	LRFN1	19	39805736	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	21264025	39805736	19323247	67	5713											
ERCC1	2067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	45920093	45920093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacctccaggcgaggatCaatgtgcagtcggccaggat	9	8	12	12	2	2	0	2	0	1	0	5	3	3	2	3	4	1	1	3	4	1	0			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr19:45920093C>A	ENST00000300853.3	-	6	1179	c.588G>T	c.(586-588)ttG>ttT	p.L196F	ERCC1_ENST00000013807.5_Missense_Mutation_p.L196F|ERCC1_ENST00000589165.1_Missense_Mutation_p.L196F|ERCC1_ENST00000340192.7_Missense_Mutation_p.L196F|ERCC1_ENST00000423698.2_Missense_Mutation_p.L124F|ERCC1_ENST00000591636.1_Missense_Mutation_p.L196F|ERCC1_ENST00000588738.1_5'Flank	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	196					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AGGCGAGGATCAATGTGCAGT	0.572								Nucleotide excision repair (NER)																													p.L196F													.	.			0			c.G588T												75	61	66					19																	45920093		2203	4300	6503	SO:0001583	missense	2067	exon6			GAGGATCAATGTG		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.588G>T	19.37:g.45920093C>A	ENSP00000300853:p.Leu196Phe		71	0	0		71	0.1	7	NM_001983	190	0.25	48	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902549	0.52227	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	T;T;T;T	0.69040	-0.2;-0.25;-0.18;-0.37	4.54	2.23	0.28157	Restriction endonuclease, type II-like (1);	0.000000	0.64402	D	0.000001	T	0.81987	0.4939	M	0.92459	3.31	0.50632	D	0.999882	D;D;D;D	0.76494	0.999;0.993;0.998;0.998	P;P;P;P	0.62184	0.899;0.786;0.835;0.835	D	0.83667	0.0164	10	0.87932	D	0	-12.4534	10.4034	0.44243	0.0:0.6121:0.3879:0.0	.	196;124;196;196	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	F	196;196;124;196	ENSP00000300853:L196F;ENSP00000345203:L196F;ENSP00000394875:L124F;ENSP00000013807:L196F	ENSP00000013807:L196F	L	-	3	2	ERCC1	50611933	1.000000	0.71417	0.954000	0.39281	0.553000	0.35397	1.073000	0.30691	0.458000	0.26988	0.313000	0.20887	TTG			0.572	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459542.1		NM_001983		A	45920093	C	A	45920093	3	1	80	1	0	0	0	0	1	0	0	0	5219	825	29	3	454	3	ERCC1	19	45920093	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	6114357	45920093	13208890	68	5714											
LAIR1	3903	broad.mit.edu	37	chr19	54871676	54871676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggagtccgggcctccagagGtttctgtaaacaggggcagg	8	7	17	9	1	1	1	0	0	1	1	3	2	3	2	3	6	1	3	3	6	2	2	rs190462445		TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr19:54871676G>C	ENST00000391742.2	-	4	520	c.368C>G	c.(367-369)aCc>aGc	p.T123S	LAIR1_ENST00000391743.3_Missense_Mutation_p.T105S|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Missense_Mutation_p.T122S|LAIR1_ENST00000313038.6_Missense_Mutation_p.T116S|LAIR1_ENST00000474878.1_Intron|LAIR1_ENST00000348231.4_Intron			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	123					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GCCTCCAGAGGTTTCTGTAAA	0.627																																					p.T123S													.	LAIR1	44		0			c.C368G																																									SO:0001583	missense	3903	exon4			CCAGAGGTTTCTG	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.368C>G	19.37:g.54871676G>C	ENSP00000375622:p.Thr123Ser		105	0.019047619	2		97	0.04	4	NM_002287	59	0.08	5		Missense_Mutation	SNP	ENST00000391742.2	37	CCDS12891.1	26	0.011904761904761904	2	0.0040650406504065045	3	0.008287292817679558	4	0.006993006993006993	17	0.022427440633245383	.	5.350	0.249947	0.10130	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000313038;ENST00000444687	T;T;T;T;T	0.47528	7.09;7.19;7.2;7.15;0.84	1.95	-0.399	0.12415	.	.	.	.	.	T	0.15392	0.0371	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.24533	0.022;0.105;0.017;0.01	B;B;B;B	0.14023	0.01;0.009;0.005;0.005	T	0.17684	-1.0361	9	0.09338	T	0.73	.	2.5523	0.04751	0.1781:0.0:0.5376:0.2842	.	123;105;122;123	Q6GTX8-4;A8MZ84;D3YTC8;Q6GTX8	.;.;.;LAIR1_HUMAN	S	105;123;122;116;13	ENSP00000375623:T105S;ENSP00000375622:T123S;ENSP00000391003:T122S;ENSP00000319204:T116S;ENSP00000392722:T13S	ENSP00000319204:T116S	T	-	2	0	LAIR1	59563488	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.786000	0.04623	-0.001000	0.14495	0.479000	0.44913	ACC			0.627	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000140506.1				C	54871676	G	C	54871676	3	2	80	1	0	0	0	0	1	0	0	0	8617	1261	44	5	523	5	LAIR1	19	54871676	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	8951583	54871676	4257307	69	5715											
EEF1A2	1917	bcgsc.ca	37	chr20	62119705	62119705	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgaccttgccggcgccGccgctcttcttctccacgtt	2	13	10	16	5	3	1	0	1	3	0	4	1	3	1	5	2	1	2	5	2	0	5			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr20:62119705G>T	ENST00000298049.7	-	7	1408	c.1338C>A	c.(1336-1338)ggC>ggA	p.G446G	EEF1A2_ENST00000217182.3_Silent_p.G446G			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	446					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)			TGCCGGCGCCGCCGCTCTTCT	0.746																																					p.G446G													EEF1A2,colon,carcinoma,-1,1	EEF1A2	60	1	0			c.C1338A												7	6	6					20																	62119705		1932	3816	5748	SO:0001819	synonymous_variant	1917	exon8			GGCGCCGCCGCTC	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.1338C>A	20.37:g.62119705G>T			56	0	0		39	0.1	4	NM_001958	16	0	0	B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	CCDS13522.1																																																																																					0.746	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080495.1		NM_001958		T	62119705	G	T	62119705	2	4	80	1	0	0	0	0	0	0	0	1	4929	1074	38	1		1	EEF1A2	20	62119705	Silent	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		62119705	905815	70	5716											
STMN3	50861	mdanderson.org	37	chr20	62275211	62275211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atagggctctctggggacagGtcagaaggggacttgaggat	10	8	17	6	0	2	2	1	1	1	1	3	5	2	5	0	7	0	1	0	7	2	2			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr20:62275211G>T	ENST00000370053.1	-	3	270	c.189C>A	c.(187-189)gaC>gaA	p.D63E	STMN3_ENST00000540534.1_Missense_Mutation_p.D52E	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	63	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CTGGGGACAGGTCAGAAGGGG	0.612																																					p.D63E													STMN3,NS,carcinoma,-2,1	STMN3	-2	1	0			c.C189A												96	90	92					20																	62275211		2203	4300	6503	SO:0001583	missense	50861	exon3			GGACAGGTCAGAA	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.189C>A	20.37:g.62275211G>T	ENSP00000359070:p.Asp63Glu		43	0	0		35	0.09	3	NM_015894	310	0	0	B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	37	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585543	0.28268	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.09	2.75	0.32379	.	0.000000	0.64402	U	0.000006	T	0.50633	0.1627	L	0.51422	1.61	0.38234	D	0.941131	D	0.65815	0.995	P	0.53490	0.727	T	0.50996	-0.8761	9	0.12766	T	0.61	-31.6846	8.3115	0.32073	0.3008:0.0:0.6992:0.0	.	63	Q9NZ72	STMN3_HUMAN	E	63;52	.	ENSP00000359070:D63E	D	-	3	2	STMN3	61745655	1.000000	0.71417	0.997000	0.53966	0.012000	0.07955	2.367000	0.44213	1.148000	0.42385	0.491000	0.48974	GAC			0.612	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080163.1		NM_015894		T	62275211	G	T	62275211	3	4	80	1	0	0	0	0	1	0	0	0	15333	1252	44	3	365	3	STMN3	20	62275211	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10	155506	62275211	750309	71	5717											
NIPSNAP1	8508	mdanderson.org	37	chr22	29957542	29957542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgttgggacccattctggGctgtggctcattccagaagc	7	11	13	10	0	2	1	1	0	1	1	3	3	3	2	2	3	1	3	2	3	1	3			TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chr22:29957542G>T	ENST00000216121.7	-	6	786	c.532C>A	c.(532-534)Ccc>Acc	p.P178T		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	178					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CCCATTCTGGGCTGTGGCTCA	0.587																																					p.P178T													.	.			1	Unknown(1)	lung(1)	c.C532A												90	91	91					22																	29957542		2203	4300	6503	SO:0001583	missense	8508	exon6			TTCTGGGCTGTGG	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.532C>A	22.37:g.29957542G>T	ENSP00000216121:p.Pro178Thr		74	0	0		51	0.06	3	NM_003634	206	0	0	B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	CCDS13860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.465317|4.465317	0.84425|0.84425	.|.	.|.	ENSG00000184117|ENSG00000184117	ENST00000415100|ENST00000216121;ENST00000437094	.|T	.|0.61980	.|0.06	4.83|4.83	4.83|4.83	0.62350|0.62350	.|Dimeric alpha-beta barrel (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79969|0.79969	0.4538|0.4538	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59357	.|0.984;0.985	.|P;P	.|0.59288	.|0.855;0.811	T|T	0.83314|0.83314	-0.0021|-0.0021	5|10	.|0.59425	.|D	.|0.04	.|.	18.4748|18.4748	0.90788|0.90788	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158;178	.|B4DQI7;Q9BPW8	.|.;NIPS1_HUMAN	D|T	194|178;43	.|ENSP00000216121:P178T	.|ENSP00000216121:P178T	A|P	-|-	2|1	0|0	NIPSNAP1|NIPSNAP1	28287542|28287542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	6.053000|6.053000	0.71089|0.71089	2.681000|2.681000	0.91329|0.91329	0.462000|0.462000	0.41574|0.41574	GCC|CCC			0.587	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322117.1				T	29957542	G	T	29957542	3	4	80	1	0	0	0	0	1	0	0	0	10446	1203	42	2	342	2	NIPSNAP1	22	29957542	Missense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		29957542	21347024	72	5718											
FAM104B	90736	mdanderson.org	37	chrX	55172630	55172630	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacccctcatgcaagaactGgggaaagtttgcatcgggtt	11	10	11	9	1	1	1	1	0	0	1	2	2	1	2	2	3	4	4	2	3	4	3	rs113263757		TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chrX:55172630G>A	ENST00000358460.4	-	3	388	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.Q78*|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000332132.4_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.Q76*|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	79										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TGCAAGAACTGGGGAAAGTTT	0.493																																					p.Q80X													.	.			0			c.C238T												127	104	112					X																	55172630		2203	4300	6503	SO:0001587	stop_gained	90736	exon3			AGAACTGGGGAAA	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.235C>T	X.37:g.55172630G>A	ENSP00000364101:p.Gln79*		27	0.037037037	1		38	0.13	5	NM_001166700	109	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	11.17	1.559418	0.27827	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.6	1.6	0.23607	.	0.325359	0.21941	U	0.066869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.2487	6.0913	0.19995	0.0:0.0:1.0:0.0	.	.	.	.	X	79;80;80;76;78	.	ENSP00000333394:Q80X	Q	-	1	0	FAM104B	55189355	0.905000	0.30787	0.015000	0.15790	0.033000	0.12548	1.600000	0.36762	1.084000	0.41184	0.436000	0.28706	CAG			0.493	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		A	55172630	G	A	55172630	4	1	80	1	0	0	0	0	0	1	0	0	5396	1357	47	3	217	3	FAM104B	23	55172630	Nonsense_Mutation	SNP	G	TCGA-2X-A9D5-01A-11D-A435-10		55172630	100097930	73	5719			1	13		2	2	16	N	G_C	3.585585e-05
FAM104B	90736	mdanderson.org	37	chrX	55172645	55172645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaactggggaaagtttgcatCgggttcagtaacaatctggt	11	11	13	6	1	2	0	1	0	1	0	3	2	2	1	0	4	3	4	0	4	4	3	rs1047042	byFrequency	TCGA-2X-A9D5-01A-11D-A435-10	TCGA-2X-A9D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2d2797f-df6f-4d7d-b19d-5abe92fc9533	e62d817f-988d-403f-919c-116b44eeffc7	g.chrX:55172645C>G	ENST00000358460.4	-	3	373	c.220G>C	c.(220-222)Gat>Cat	p.D74H	FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.D73H|FAM104B_ENST00000425133.2_Missense_Mutation_p.D75H|FAM104B_ENST00000332132.4_Missense_Mutation_p.D75H|FAM104B_ENST00000477847.2_Missense_Mutation_p.D71H|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	74				D -> V (in Ref. 1; BAG61768). {ECO:0000305}.						endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AAGTTTGCATCGGGTTCAGTA	0.468													C|||	5	0.0013245	0.0023	0	3775	,	,		14416	0		0	False		,,,				2504	0.002				p.D75H													.	.			0			c.G223C												136	110	119					X																	55172645		2203	4300	6503	SO:0001583	missense	90736	exon3			TTGCATCGGGTTC	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.220G>C	X.37:g.55172645C>G	ENSP00000364101:p.Asp74His		29	0.0344827586	1		38	0.08	3	NM_001166700	114	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	3.193	-0.165363	0.06461	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	1.59	-1.04	0.10068	.	0.505297	0.17523	U	0.171170	T	0.25044	0.0608	N	0.14661	0.345	0.09310	N	1	B;P;P	0.46859	0.002;0.774;0.885	B;P;B	0.46479	0.001;0.518;0.241	T	0.15065	-1.0450	10	0.56958	D	0.05	-1.547	4.2247	0.10575	0.0:0.4679:0.0:0.5321	.	75;74;75	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	H	74;75;75;71;73	ENSP00000364101:D74H;ENSP00000333394:D75H;ENSP00000397188:D75H;ENSP00000421161:D71H;ENSP00000423164:D73H	ENSP00000333394:D75H	D	-	1	0	FAM104B	55189370	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.019000	0.12546	-0.355000	0.08199	-0.556000	0.04195	GAT			0.468	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		G	55172645	C	G	55172645	3	3	80	1	0	0	0	0	1	0	0	0	5396	884	31	5	232	5	FAM104B	23	55172645	Missense_Mutation	SNP	C	TCGA-2X-A9D5-01A-11D-A435-10	15	55172645	100097915	74	5720			1	13		2	2	16	N	G_C	3.585585e-05
CSMD2	114784	broad.mit.edu	37	chr1	34554769	34554769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgtcccattgggaccGtgcagttggaacgtgcagtt	8	11	12	10	2	1	0	1	0	0	0	2	2	2	2	2	2	4	4	2	2	2	3	rs373612518		TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr1:34554769G>A	ENST00000373381.4	-	2	389	c.213C>T	c.(211-213)caC>caT	p.H71H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	31	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)				CATTGGGACCGTGCAGTTGGA	0.527													G|||	1	0.000199681	0	0	5008	,	,		21441	0		0	False		,,,				2504	0.001				p.H31H													.	CSMD2	946		0			c.C93T							G		0,4406		0,0,2203	77	68	71		93	-4.1	0.9	1		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSMD2	NM_052896.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		31/3488	34554769	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114784	exon2			GGGACCGTGCAGT	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.213C>T	1.37:g.34554769G>A			151	0.0066225166	1		141	0.03	4	NM_052896	11	0	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																						0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_052896		A	34554769	G	A	34554769	2	1	81	1	0	0	0	0	0	0	0	1	3947	1136	40	1		1	CSMD2	1	34554769	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		34554769	214695852	1	5721											
SLC2A1	6513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	43395380	43395380	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcttctcccgcatcaTctgccgactctcttccttca	5	14	4	18	2	6	0	2	0	4	0	9	2	7	0	4	0	1	1	4	0	0	4			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr1:43395380T>C	ENST00000426263.3	-	6	929	c.751A>G	c.(751-753)Atg>Gtg	p.M251V	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	251					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TCCCGCATCATCTGCCGACTC	0.627																																					p.M251V													.	.			0			c.A751G												141	133	136					1																	43395380		2203	4300	6503	SO:0001583	missense	6513	exon6			GCATCATCTGCCG	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.751A>G	1.37:g.43395380T>C	ENSP00000416293:p.Met251Val		57	0	0		40	0.23	9	NM_006516	97	0.27	26	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980421	0.53827	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.73897	-0.79;-0.79	5.14	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70343	0.3213	M	0.62209	1.925	0.80722	D	1	B	0.24092	0.097	B	0.18263	0.021	T	0.68074	-0.5505	10	0.39692	T	0.17	.	12.9241	0.58249	0.0:0.0:0.0:1.0	.	251	P11166	GTR1_HUMAN	V	251;251;193;156	ENSP00000416293:M251V;ENSP00000395521:M156V	ENSP00000361579:M251V	M	-	1	0	SLC2A1	43167967	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.186000	0.72026	1.939000	0.56221	0.454000	0.30748	ATG			0.627	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000020358.2		NM_006516		C	43395380	T	C	43395380	3	2	81	1	0	0	0	0	1	0	0	0	14561	1435	50	4	747	4	SLC2A1	1	43395380	Missense_Mutation	SNP	T	TCGA-2X-A9D6-01A-11D-A435-10	8840611	43395380	205855241	2	5722											
DPH2	1802	mdanderson.org	37	chr1	44437573	44437573	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgccaacttccctgaggtGgatgtctttgtgctattagc	6	15	10	10	0	1	1	0	1	1	0	2	2	2	2	2	2	4	1	2	2	3	5			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr1:44437573G>T	ENST00000255108.3	+	4	1171	c.999G>T	c.(997-999)gtG>gtT	p.V333V	DPH2_ENST00000412950.2_Silent_p.V198V|DPH2_ENST00000396758.2_Intron|ATP6V0B_ENST00000472174.2_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	333					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TCCCTGAGGTGGATGTCTTTG	0.592																																					p.V333V													.	.			0			c.G999T												111	105	107					1																	44437573		2203	4300	6503	SO:0001819	synonymous_variant	1802	exon4			TGAGGTGGATGTC	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.999G>T	1.37:g.44437573G>T			80	0	0		45	0.07	3	NM_001384	135	0	0	A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	ENST00000255108.3	37	CCDS504.1																																																																																					0.592	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022832.1		NM_001384		T	44437573	G	T	44437573	2	4	81	1	0	0	0	0	0	0	0	1	4725	1335	47	3		3	DPH2	1	44437573	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	1042193	44437573	204813048	3	5723											
GLIS1	148979	mdanderson.org	37	chr1	53972366	53972366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attggggaagaagccacagtCctcggggccgctggacacca	10	5	14	12	2	0	1	0	0	0	1	2	3	1	3	4	5	1	1	4	5	2	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr1:53972366C>A	ENST00000312233.2	-	10	2355	c.1789G>T	c.(1789-1791)Gac>Tac	p.D597Y		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AAGCCACAGTCCTCGGGGCCG	0.622																																					p.D597Y													.	.			0			c.G1789T												74	70	71					1																	53972366		2203	4300	6503	SO:0001583	missense	148979	exon10			CACAGTCCTCGGG	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1789G>T	1.37:g.53972366C>A	ENSP00000309653:p.Asp597Tyr		56	0	0		40	0.08	3	NM_147193	1	0	0		Missense_Mutation	SNP	ENST00000312233.2	37	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581004	0.65992	.	.	ENSG00000174332	ENST00000312233	T	0.16196	2.36	4.3	4.3	0.51218	.	0.105638	0.41396	D	0.000881	T	0.27489	0.0675	L	0.29908	0.895	0.38736	D	0.953787	D	0.76494	0.999	D	0.68192	0.956	T	0.05903	-1.0857	10	0.87932	D	0	.	12.4509	0.55677	0.0:1.0:0.0:0.0	.	597	Q8NBF1	GLIS1_HUMAN	Y	597	ENSP00000309653:D597Y	ENSP00000309653:D597Y	D	-	1	0	GLIS1	53744954	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.712000	0.61888	2.408000	0.81797	0.484000	0.47621	GAC			0.622	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022109.1		NM_147193		A	53972366	C	A	53972366	3	1	81	1	0	0	0	0	1	0	0	0	6459	855	30	3	77	3	GLIS1	1	53972366	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	9534793	53972366	195278255	4	5724											
CLCC1	23155	broad.mit.edu	37	chr1	109492518	109492518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagtcaggactgacatccTtttcccctgaaataccatat	13	11	5	12	0	1	2	1	2	0	0	3	3	3	3	4	1	1	0	4	1	4	4			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr1:109492518T>C	ENST00000369971.2	-	3	284	c.155A>G	c.(154-156)aAg>aGg	p.K52R	CLCC1_ENST00000369968.2_Missense_Mutation_p.K52R|CLCC1_ENST00000302500.4_Missense_Mutation_p.K52R|CLCC1_ENST00000356970.2_Missense_Mutation_p.K52R|CLCC1_ENST00000369976.1_Missense_Mutation_p.K52R|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369969.2_Missense_Mutation_p.K52R|CLCC1_ENST00000348264.2_Missense_Mutation_p.K52R|CLCC1_ENST00000369970.3_Missense_Mutation_p.K52R|CLCC1_ENST00000415331.1_Missense_Mutation_p.K52R	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	52						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)		ACTGACATCCTTTTCCCCTGA	0.279																																					p.K52R													.	CLCC1	55		0			c.A155G												58	59	59					1																	109492518		2203	4290	6493	SO:0001583	missense	23155	exon3			ACATCCTTTTCCC	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.155A>G	1.37:g.109492518T>C	ENSP00000358988:p.Lys52Arg		600	0	0		501	0.01	4	NM_001048210	48	0	0	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272517	0.80580	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369976;ENST00000369970;ENST00000348264;ENST00000302500	T;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;0.84	5.41	5.41	0.78517	.	0.597033	0.18496	N	0.139493	T	0.42494	0.1205	M	0.62723	1.935	0.19775	N	0.999957	P;P;P;P	0.50819	0.827;0.827;0.804;0.939	P;B;P;P	0.51324	0.526;0.439;0.467;0.666	T	0.38564	-0.9655	10	0.51188	T	0.08	-5.3424	12.107	0.53818	0.0:0.0:0.0:1.0	.	52;52;52;52	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	R	52	ENSP00000349456:K52R;ENSP00000358988:K52R;ENSP00000411591:K52R;ENSP00000358986:K52R;ENSP00000358985:K52R;ENSP00000358993:K52R;ENSP00000358987:K52R;ENSP00000337243:K52R;ENSP00000306552:K52R	ENSP00000306552:K52R	K	-	2	0	CLCC1	109294041	0.008000	0.16893	0.271000	0.24616	0.493000	0.33554	1.671000	0.37513	2.166000	0.68216	0.460000	0.39030	AAG			0.279	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032405.1		NM_015127		C	109492518	T	C	109492518	3	2	81	1	0	0	0	0	1	0	0	0	3462	1609	56	4	1536	4	CLCC1	1	109492518	Missense_Mutation	SNP	T	TCGA-2X-A9D6-01A-11D-A435-10	55520152	109492518	139758103	5	5725											
METTL13	51603	broad.mit.edu	37	chr1	171759727	171759727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccatgatcgctggccttgCcctgctgagaaacccagagc	9	7	11	14	1	0	3	0	2	0	2	1	4	0	3	4	1	5	2	4	1	1	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr1:171759727C>T	ENST00000361735.3	+	5	1711	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	METTL13_ENST00000362019.3_Missense_Mutation_p.A396V|METTL13_ENST00000367737.5_Missense_Mutation_p.A326V|METTL13_ENST00000458517.1_Missense_Mutation_p.A481V|METTL13_ENST00000466643.1_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	482							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCTGGCCTTGCCCTGCTGAGA	0.537																																					p.A482V													.	METTL13	67		0			c.C1445T												84	85	85					1																	171759727		2203	4300	6503	SO:0001583	missense	51603	exon5			GCCTTGCCCTGCT	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1445C>T	1.37:g.171759727C>T	ENSP00000354920:p.Ala482Val		289	0	0		254	0.02	4	NM_015935	65	0	0	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059677	0.76074	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.91	5.91	0.95273	.	0.154841	0.56097	D	0.000026	T	0.77877	0.4196	L	0.49571	1.57	0.34320	D	0.686426	P;D;D	0.61697	0.956;0.99;0.986	P;P;P	0.59056	0.575;0.851;0.642	T	0.76971	-0.2761	10	0.34782	T	0.22	-34.0109	15.7586	0.78058	0.0:0.8253:0.1747:0.0	.	481;326;482	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	V	481;396;326;482	ENSP00000401955:A481V;ENSP00000355393:A396V;ENSP00000356711:A326V;ENSP00000354920:A482V	ENSP00000354920:A482V	A	+	2	0	METTL13	170026350	0.058000	0.20735	0.998000	0.56505	0.907000	0.53573	2.618000	0.46393	2.793000	0.96121	0.655000	0.94253	GCC			0.537	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084528.5		NM_014955		T	171759727	C	T	171759727	3	4	81	1	0	0	0	0	1	0	0	0	9513	739	26	2	1463	2	METTL13	1	171759727	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	62267209	171759727	77490894	6	5726											
IRF2BP2	359948	mdanderson.org	37	chr1	234745106	234745106	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaactcgacgcggtcggcGccctcgtagttgacgcagcc	7	6	13	15	8	0	1	0	1	0	0	3	3	0	1	2	2	2	3	2	2	2	2			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr1:234745106G>T	ENST00000366609.3	-	1	165	c.135C>A	c.(133-135)ggC>ggA	p.G45G	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Silent_p.G45G	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGCGGTCGGCGCCCTCGTAGT	0.721																																					p.G45G													.	.			0			c.C135A												8	8	8					1																	234745106		2132	4207	6339	SO:0001819	synonymous_variant	359948	exon1			GTCGGCGCCCTCG	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.135C>A	1.37:g.234745106G>T			51	0	0		43	0.07	3	NM_182972	17	0	0	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	CCDS1602.1																																																																																					0.721	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000092705.1		NM_182972		T	234745106	G	T	234745106	2	4	81	1	0	0	0	0	0	0	0	1	7845	1074	38	1		1	IRF2BP2	1	234745106	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	62985379	234745106	14505515	7	5727											
NLRP3	114548	mdanderson.org	37	chr1	247599286	247599286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggttggtcagctgctGcctcacatcagcatgttgtc	7	12	12	10	0	3	0	3	0	0	0	4	1	3	1	1	3	4	5	1	3	1	2			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr1:247599286G>T	ENST00000336119.3	+	6	3259	c.2513G>T	c.(2512-2514)tGc>tTc	p.C838F	NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.C838F|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Missense_Mutation_p.C781F|NLRP3_ENST00000366496.2_Intron	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	838					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)			GTCAGCTGCTGCCTCACATCA	0.542																																					p.C838F													.	.			0			c.G2513T												130	102	111					1																	247599286		2203	4300	6503	SO:0001583	missense	114548	exon6			GCTGCTGCCTCAC	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.2513G>T	1.37:g.247599286G>T	ENSP00000337383:p.Cys838Phe		63	0.0158730159	1		46	0.07	3	NM_004895	7	0	0	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.900188	0.00517	.	.	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	T;T;T	0.37411	1.2;1.2;1.2	3.78	1.82	0.25136	.	0.200198	0.25205	N	0.032353	T	0.25082	0.0609	M	0.64404	1.975	0.09310	N	1	B;B;P	0.51653	0.07;0.03;0.947	B;B;B	0.38378	0.0;0.034;0.272	T	0.22977	-1.0201	10	0.09843	T	0.71	.	6.5057	0.22194	0.0:0.2029:0.5873:0.2098	.	818;781;838	B7ZKS9;Q96P20-4;Q96P20	.;.;NALP3_HUMAN	F	838;838;781	ENSP00000375704:C838F;ENSP00000337383:C838F;ENSP00000375703:C781F	ENSP00000337383:C838F	C	+	2	0	NLRP3	245665909	0.000000	0.05858	0.681000	0.30009	0.115000	0.19883	-0.009000	0.12765	0.545000	0.28902	0.536000	0.68110	TGC			0.542	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097740.1		NM_004895		T	247599286	G	T	247599286	3	4	81	1	0	0	0	0	1	0	0	0	10495	1319	46	2	2535	2	NLRP3	1	247599286	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	12854180	247599286	1651335	8	5728											
SNTG2	54221	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	1133331	1133331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagacagggatgttgttcGtaggagatgctgttctccag	9	11	13	8	1	1	2	0	0	1	2	3	4	1	3	2	2	1	5	2	2	1	4			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr2:1133331G>T	ENST00000308624.5	+	5	478	c.349G>T	c.(349-351)Gta>Tta	p.V117L	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	117	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GATGTTGTTCGTAGGAGATGC	0.378																																					p.V117L													.	SNTG2	125		0			c.G349T												108	105	106					2																	1133331		2026	4191	6217	SO:0001583	missense	54221	exon5			TTGTTCGTAGGAG	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.349G>T	2.37:g.1133331G>T	ENSP00000311837:p.Val117Leu		128	0	0		102	0.05	5	NM_018968	0		0	Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009312	0.35415	.	.	ENSG00000172554	ENST00000308624	T	0.31247	1.5	4.69	0.701	0.18104	PDZ/DHR/GLGF (4);	0.377399	0.28036	N	0.016847	T	0.33323	0.0859	M	0.62209	1.925	0.80722	D	1	B	0.28324	0.207	B	0.38880	0.284	T	0.10451	-1.0629	10	0.51188	T	0.08	.	8.4388	0.32803	0.8271:0.0:0.1729:0.0	.	117	Q9NY99	SNTG2_HUMAN	L	117	ENSP00000311837:V117L	ENSP00000311837:V117L	V	+	1	0	SNTG2	1123331	1.000000	0.71417	0.996000	0.52242	0.584000	0.36387	1.027000	0.30115	-0.161000	0.10983	-0.384000	0.06662	GTA			0.378	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322454.1		NM_018968		T	1133331	G	T	1133331	3	4	81	1	0	0	0	0	1	0	0	0	14898	1145	40	1	367	1	SNTG2	2	1133331	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		1133331	242066042	9	5729											
SUCLG2	8801	mdanderson.org	37	chr3	67426205	67426205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccacagccttcttggctGcatcctccaggtcaatggct	6	11	10	14	0	2	0	1	0	1	0	4	0	4	0	4	4	2	3	4	4	1	2			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr3:67426205G>A	ENST00000307227.5	-	11	1289	c.1262C>T	c.(1261-1263)gCa>gTa	p.A421V	SUCLG2_ENST00000493112.1_Intron	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	421					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CTTCTTGGCTGCATCCTCCAG	0.498																																					p.A421V													.	.			0			c.C1262T												64	64	64					3																	67426205		1944	4159	6103	SO:0001583	missense	8801	exon11			TTGGCTGCATCCT	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.1262C>T	3.37:g.67426205G>A	ENSP00000307432:p.Ala421Val		84	0	0		76	0.05	4	NM_003848	104	0	0	C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	CCDS43104.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280911	0.80692	.	.	ENSG00000172340	ENST00000307227;ENST00000541608	T	0.79749	-1.3	5.38	5.38	0.77491	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.90086	0.6903	M	0.82923	2.615	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.955;0.982	D	0.91217	0.5003	10	0.87932	D	0	.	16.4035	0.83650	0.0:0.0:1.0:0.0	.	239;421	F5H4S7;Q96I99	.;SUCB2_HUMAN	V	421;239	ENSP00000307432:A421V	ENSP00000307432:A421V	A	-	2	0	SUCLG2	67508895	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.492000	0.90471	2.676000	0.91093	0.563000	0.77884	GCA			0.498	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351993.1		NM_003848		A	67426205	G	A	67426205	3	1	81	1	0	0	0	0	1	0	0	0	15388	1319	46	2	184	2	SUCLG2	3	67426205	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		67426205	130596225	10	5730											
PLXND1	23129	mdanderson.org	37	chr3	129277296	129277296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctgcaggtcagagatgGagcaggcgtcgatgaaggcc	10	5	16	10	2	1	2	1	1	0	1	2	5	1	3	2	4	3	3	2	4	1	0			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr3:129277296G>T	ENST00000324093.4	-	33	5598	c.5420C>A	c.(5419-5421)tCc>tAc	p.S1807Y	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_5'Flank	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1807					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						GTCAGAGATGGAGCAGGCGTC	0.602																																					p.S1807Y	Ovarian(97;366 1484 3738 22084 39045)												.	.			0			c.C5420A												56	56	56					3																	129277296		2203	4300	6503	SO:0001583	missense	23129	exon33			GAGATGGAGCAGG	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.5420C>A	3.37:g.129277296G>T	ENSP00000317128:p.Ser1807Tyr		67	0	0		37	0.08	3	NM_015103	315	0	0	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082219	0.94050	.	.	ENSG00000004399	ENST00000324093	T	0.20881	2.04	4.68	4.68	0.58851	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.129222	0.52532	D	0.000064	T	0.52853	0.1760	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.995;0.999	T	0.63462	-0.6632	10	0.87932	D	0	.	16.6036	0.84822	0.0:0.0:1.0:0.0	.	403;1807	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	Y	1807	ENSP00000317128:S1807Y	ENSP00000317128:S1807Y	S	-	2	0	PLXND1	130759986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.641000	0.98458	2.138000	0.66242	0.561000	0.74099	TCC			0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356132.4		NM_015103		T	129277296	G	T	129277296	3	4	81	1	0	0	0	0	1	0	0	0	12144	1174	41	3	373	3	PLXND1	3	129277296	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	61851091	129277296	68745134	11	5731											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599320	55599320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattttggtctagccagaGacatcaagaatgattctaat	13	13	9	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	5	rs121913506		TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr4:55599320G>T	ENST00000288135.5	+	17	2543	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816Y			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,0,932	KIT	0	932	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	c.G2446T												144	146	145					4																	55599320		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GCCAGAGACATCA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>T	4.37:g.55599320G>T	ENSP00000288135:p.Asp816Tyr		82	0	0		45	0.24	11	NM_000222	369	0.31	114	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976091	0.92982	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.62	5.62	0.85841	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	0.000011	D	0.87869	0.6286	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.65684	0.937;0.919	D	0.88642	0.3176	10	0.87932	D	0	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	Y	816;812	ENSP00000288135:D816Y;ENSP00000390987:D812Y	ENSP00000288135:D816Y	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55599320	G	T	55599320	3	4	81	1	0	0	0	0	1	0	0	0	8344	942	33	3	2512	3	KIT	4	55599320	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		55599320	135554956	12	5732											
NUP155	9631	mdanderson.org	37	chr5	37309257	37309257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatactgagcacaaacattgGaaaggtccacttgattgcta	14	11	8	8	0	0	2	0	2	0	0	1	3	1	3	1	2	4	2	1	2	5	6			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr5:37309257G>T	ENST00000231498.3	-	24	2944	c.2741C>A	c.(2740-2742)tCc>tAc	p.S914Y	NUP155_ENST00000513532.1_Missense_Mutation_p.S850Y|NUP155_ENST00000381843.2_Missense_Mutation_p.S855Y|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	914					atrial cardiac muscle cell action potential (GO:0086014)|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 envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAAACATTGGAAAGGTCCAC	0.333																																					p.S914Y													.	.			0			c.C2741A												157	152	153					5																	37309257		2203	4300	6503	SO:0001583	missense	9631	exon24			ACATTGGAAAGGT	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2741C>A	5.37:g.37309257G>T	ENSP00000231498:p.Ser914Tyr		157	0	0		122	0.04	5	NM_153485	53	0	0	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579711	0.46006	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.78364	-1.17;-1.17;-1.15	5.71	4.81	0.61882	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.378987	0.33180	N	0.005194	T	0.73233	0.3561	N	0.24115	0.695	0.24000	N	0.99622	B;B	0.33044	0.395;0.263	B;B	0.42495	0.287;0.389	T	0.69884	-0.5024	10	0.56958	D	0.05	-1.6006	16.7636	0.85519	0.0:0.1285:0.8715:0.0	.	850;914	E9PF10;O75694	.;NU155_HUMAN	Y	914;855;876;850	ENSP00000231498:S914Y;ENSP00000371265:S855Y;ENSP00000422019:S850Y	ENSP00000231498:S914Y	S	-	2	0	NUP155	37345014	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.487000	0.81328	2.712000	0.92718	0.650000	0.86243	TCC			0.333	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207593.2		NM_153485, NM_004298		T	37309257	G	T	37309257	3	4	81	1	0	0	0	0	1	0	0	0	10773	1174	41	3	1482	3	NUP155	5	37309257	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		37309257	143606003	13	5733											
RIOK2	55781	broad.mit.edu	37	chr5	96504548	96504548	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcatttaacatctctgTcaaaatacctgcaaaagcaa	17	11	4	9	0	2	0	1	0	1	0	3	0	2	0	1	0	5	3	1	0	8	4			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr5:96504548T>C	ENST00000283109.3	-	7	856	c.788A>G	c.(787-789)gAc>gGc	p.D263G	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.D263G	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	263							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)		AACATCTCTGTCAAAATACCT	0.313																																					p.D263G													.	RIOK2	82		0			c.A788G												70	78	76					5																	96504548		2203	4296	6499	SO:0001583	missense	55781	exon7			TCTCTGTCAAAAT	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.788A>G	5.37:g.96504548T>C	ENSP00000283109:p.Asp263Gly		173	0	0		134	0.03	4	NM_001159749	50	0	0	D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821857	0.90873	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.06687	3.27;3.27	5.81	5.81	0.92471	Protein kinase-like domain (1);RIO-like kinase (1);	0.085230	0.85682	D	0.000000	T	0.29093	0.0723	M	0.82716	2.605	0.80722	D	1	D;D	0.59767	0.986;0.958	P;P	0.59012	0.85;0.833	T	0.03945	-1.0990	10	0.87932	D	0	-14.6681	15.8292	0.78739	0.0:0.0:0.0:1.0	.	263;263	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	G	263	ENSP00000283109:D263G;ENSP00000420932:D263G	ENSP00000283109:D263G	D	-	2	0	RIOK2	96530304	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.686000	0.84128	2.218000	0.71995	0.528000	0.53228	GAC			0.313	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250628.1		NM_018343		C	96504548	T	C	96504548	3	2	81	1	0	0	0	0	1	0	0	0	13401	1667	58	4	914	4	RIOK2	5	96504548	Missense_Mutation	SNP	T	TCGA-2X-A9D6-01A-11D-A435-10	59195291	96504548	84410712	14	5734											
WRNIP1	56897	broad.mit.edu	37	chr6	2766364	2766375	+	In_Frame_Del	DEL	GGCGACGGCGAT	GGCGACGGCGAT	-																															aggaggaggaggaggccgtgGgcgacggcgatggcgacggg																								rs535821800	byFrequency	TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	GGCGACGGCGAT	GGCGACGGCGAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr6:2766364_2766375delGGCGACGGCGAT	ENST00000380773.4	+	1	717_728	c.508_519delGGCGACGGCGAT	c.(508-519)ggcgacggcgatdel	p.GDGD174del	WRNIP1_ENST00000380764.1_5'Flank|WRNIP1_ENST00000380771.4_In_Frame_Del_p.GDGD174del|WRNIP1_ENST00000380769.4_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ggaggccgtgggcgacggcgatggcgacgggg	0.802														90	0.0179712	0.003	0.0461	5008	,	,		10142	0		0.0457	False		,,,				2504	0.0082				p.170_173del													.	WRNIP1	39		0			c.508_519del								,	8,1784		3,2,891					,	1.6	0.4			2	63,3291		23,17,1637	no	coding,coding	WRNIP1	NM_130395.1,NM_020135.2	,	26,19,2528	A1A1,A1R,RR		1.8784,0.4464,1.3797	,	,		71,5075				SO:0001651	inframe_deletion	56897	exon1			GCCGTGGGCGACG	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.508_519delGGCGACGGCGAT	6.37:g.2766364_2766375delGGCGACGGCGAT	ENSP00000370150:p.Gly174_Asp177del		10	0	0		6	0.5	3	NM_130395	4	0	0		In_Frame_Del	DEL	ENST00000380773.4	37	CCDS4475.1																																																																																					0.802	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039641.1		NM_130395		-	2766375	GGCGACGGCGAT	-	2766364	7	5	81	1	0	1	0	1	0	0	0	0	17427	1232	43	0	510	0	WRNIP1	6	2766364	In_Frame_Del	DEL	GGCGACGGCGAT	TCGA-2X-A9D6-01A-11D-A435-10		2766364	168348703	15	5735											
UBD	10537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	29523770	29523770	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaagtcacaatctgggTctcagggattatacccgtct	10	12	9	10	1	4	0	2	0	3	0	5	1	4	1	1	2	2	1	1	2	4	3			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr6:29523770T>C	ENST00000377050.4	-	2	608	c.385A>G	c.(385-387)Acc>Gcc	p.T129A	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	129	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						ACAATCTGGGTCTCAGGGATT	0.493																																					p.T129A													.	.			0			c.A385G												172	141	152					6																	29523770		1511	2709	4220	SO:0001583	missense	10537	exon2			TCTGGGTCTCAGG	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.385A>G	6.37:g.29523770T>C	ENSP00000366249:p.Thr129Ala		257	0	0		301	0.15	44	NM_006398	918	0	4	B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478563	0.12521	.	.	ENSG00000213886	ENST00000377050	T	0.72835	-0.69	5.12	-3.92	0.04155	Ubiquitin supergroup (1);Ubiquitin (2);	2.284950	0.02602	U	0.101120	T	0.17534	0.0421	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15578	-1.0432	10	0.72032	D	0.01	-0.1806	0.49	0.00562	0.3028:0.2958:0.1554:0.246	.	129	O15205	UBD_HUMAN	A	129	ENSP00000366249:T129A	ENSP00000366249:T129A	T	-	1	0	UBD	29631749	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-1.517000	0.02248	-0.286000	0.09076	0.496000	0.49642	ACC			0.493	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076628.3				C	29523770	T	C	29523770	3	2	81	1	0	0	0	0	1	0	0	0	16867	1667	58	4	116	4	UBD	6	29523770	Missense_Mutation	SNP	T	TCGA-2X-A9D6-01A-11D-A435-10	26757406	29523770	141591297	16	5736											
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	152702176	152702176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcattccactatctcctcatCcgtgttcttgccttccagga	6	14	6	15	1	3	0	1	0	2	0	7	1	6	1	5	1	1	2	5	1	1	5			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr6:152702176C>T	ENST00000367255.5	-	56	9575	c.8974G>A	c.(8974-8976)Gat>Aat	p.D2992N	SYNE1_ENST00000423061.1_Missense_Mutation_p.D2999N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3031N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2992N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D2999N|SYNE1-AS1_ENST00000412161.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2992					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)		ATCTCCTCATCCGTGTTCTTG	0.473										HNSCC(10;0.0054)																											p.D2999N													.	.			0			c.G8995A												145	147	146					6																	152702176		2203	4300	6503	SO:0001583	missense	23345	exon56			CCTCATCCGTGTT	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.8974G>A	6.37:g.152702176C>T	ENSP00000356224:p.Asp2992Asn		121	0	0		150	0.11	17	NM_033071	3	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	36	5.711328	0.96821	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.54866	0.64;0.67;0.55;0.67;0.71	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000004	T	0.61739	0.2371	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.972;0.965;0.972;0.991	D;P;P;P;P	0.64144	0.922;0.632;0.629;0.632;0.798	T	0.50415	-0.8831	10	0.21014	T	0.42	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	2975;2992;109;2992;2999	B3W695;Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	N	2992;2999;2992;2999;3031	ENSP00000356224:D2992N;ENSP00000396024:D2999N;ENSP00000265368:D2992N;ENSP00000390975:D2999N;ENSP00000341887:D3031N	ENSP00000265368:D2992N	D	-	1	0	SYNE1	152743869	0.999000	0.42202	0.687000	0.30102	0.987000	0.75469	4.580000	0.60942	2.861000	0.98227	0.650000	0.86243	GAT			0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000334755.2		NM_182961		T	152702176	C	T	152702176	3	4	81	1	0	0	0	0	1	0	0	0	15468	855	30	3	17856	3	SYNE1	6	152702176	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	123178406	152702176	18412891	17	5737											
PPP1R3A	5506	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	113518539	113518539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatacagttttgtctgttgGtaacattcccaactgtaaat	13	15	6	7	0	1	0	0	0	1	0	2	0	2	0	1	1	3	4	1	1	6	7			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr7:113518539G>A	ENST00000284601.3	-	4	2676	c.2608C>T	c.(2608-2610)Cca>Tca	p.P870S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	870					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGTCTGTTGGTAACATTCCC	0.363																																					p.P870S													.	.			0			c.C2608T												129	123	125					7																	113518539		2203	4300	6503	SO:0001583	missense	5506	exon4			CTGTTGGTAACAT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2608C>T	7.37:g.113518539G>A	ENSP00000284601:p.Pro870Ser		86	0	0		110	0.09	10	NM_002711	1	0	0	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.689487	0.00738	.	.	ENSG00000154415	ENST00000284601	T	0.17213	2.29	5.81	3.49	0.39957	.	0.347262	0.25344	N	0.031354	T	0.11879	0.0289	L	0.41824	1.3	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.37244	-0.9714	10	0.13108	T	0.6	-7.1547	7.1923	0.25832	0.1222:0.1533:0.7246:0.0	.	870	Q16821	PPR3A_HUMAN	S	870	ENSP00000284601:P870S	ENSP00000284601:P870S	P	-	1	0	PPP1R3A	113305775	0.070000	0.21116	0.365000	0.25901	0.006000	0.05464	0.646000	0.24797	0.449000	0.26747	0.650000	0.86243	CCA			0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346724.1		NM_002711		A	113518539	G	A	113518539	3	1	81	1	0	0	0	0	1	0	0	0	12391	1261	44	3	764	3	PPP1R3A	7	113518539	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		113518539	45620124	18	5738											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	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																																					p.S741T													DLC1,bladder,carcinoma,0,3	DLC1	411	3	0			c.G2222C												56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395	exon9			CTGCTGCTGGTCT	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		66	0	0		59	0.05	3	NM_182643	29	0	0	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	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		G	12957624	C	G	12957624	3	3	81	1	0	0	0	0	1	0	0	0	4555	797	28	5	2404	5	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10		12957624	133406398	19	5739											
PLEC	5339	mdanderson.org	37	chr8	144992458	144992458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacgggtccacgtagctgCgcacctcgctgggctctgac	5	8	14	14	4	1	1	0	1	1	0	3	2	2	2	2	3	2	5	2	3	1	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr8:144992458C>T	ENST00000322810.4	-	32	12111	c.11942G>A	c.(11941-11943)cGc>cAc	p.R3981H	PLEC_ENST00000356346.3_Missense_Mutation_p.R3830H|PLEC_ENST00000398774.2_Missense_Mutation_p.R3812H|PLEC_ENST00000527096.1_Missense_Mutation_p.R3867H|PLEC_ENST00000354589.3_Missense_Mutation_p.R3844H|PLEC_ENST00000345136.3_Missense_Mutation_p.R3844H|PLEC_ENST00000357649.2_Missense_Mutation_p.R3848H|PLEC_ENST00000436759.2_Missense_Mutation_p.R3871H|PLEC_ENST00000354958.2_Missense_Mutation_p.R3822H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3981	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						CACGTAGCTGCGCACCTCGCT	0.682																																					p.R3981H													.	.			0			c.G11942A												18	25	22					8																	144992458		2051	4183	6234	SO:0001583	missense	5339	exon32			TAGCTGCGCACCT	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.11942G>A	8.37:g.144992458C>T	ENSP00000323856:p.Arg3981His		8	0	0		10	0.2	2	NM_201380	381	0.22	84	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337799	0.24253	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	3.67	3.67	0.42095	.	0.373188	0.20642	U	0.088396	T	0.69424	0.3109	L	0.46157	1.445	0.32885	D	0.511013	D;D;D;D;D;D;D;D	0.63880	0.993;0.993;0.993;0.988;0.993;0.993;0.993;0.993	P;P;P;P;P;P;P;P	0.52823	0.71;0.71;0.71;0.517;0.71;0.71;0.71;0.71	T	0.79198	-0.1902	10	0.72032	D	0.01	.	14.6511	0.68797	0.0:1.0:0.0:0.0	.	3871;3830;3822;3981;3812;3844;3848;3844	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	3844;3848;3844;3812;3981;3822;3830;3871;3867	ENSP00000344848:R3844H;ENSP00000350277:R3848H;ENSP00000346602:R3844H;ENSP00000381756:R3812H;ENSP00000323856:R3981H;ENSP00000347044:R3822H;ENSP00000348702:R3830H;ENSP00000388180:R3871H;ENSP00000434583:R3867H	ENSP00000323856:R3981H	R	-	2	0	PLEC	145064446	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.620000	0.46410	2.050000	0.60909	0.448000	0.29417	CGC			0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		T	144992458	C	T	144992458	3	4	81	1	0	0	0	0	1	0	0	0	12069	768	27	1	2116	1	PLEC	8	144992458	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	132034834	144992458	1371564	20	5740											
OPLAH	26873	mdanderson.org	37	chr8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgcctggcgcccgcaggGcctccgtcaccgctggatgg	3	7	14	17	4	1	0	1	0	0	0	2	1	2	1	6	4	1	2	6	4	0	1	rs186909122		TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900					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)			CGCCCGCAGGGCCTCCGTCAC	0.647																																					p.A900D													.	.			0			c.C2699A												44	52	50					8																	145108284		2081	4210	6291	SO:0001583	missense	26873	exon20			CGCAGGGCCTCCG	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.2699C>A	8.37:g.145108284G>T	ENSP00000475943:p.Ala900Asp		64	0.015625	1		30	0.13	4	NM_017570	1	0	0	A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		.	.	.	.	.	.	.	.	.	.	G	14.54	2.564475	0.45694	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	3.44	0.39384	.	0.106428	0.64402	D	0.000007	T	0.48132	0.1483	.	.	.	0.52099	D	0.999941	B	0.18863	0.031	B	0.25405	0.06	T	0.61317	-0.7087	7	0.62326	D	0.03	.	10.7882	0.46417	0.1156:0.0:0.8844:0.0	.	900	O14841	OPLA_HUMAN	D	900	.	ENSP00000412071:A900D	A	-	2	0	OPLAH	145180272	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.294000	0.51787	2.069000	0.61940	0.448000	0.29417	GCC			0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_017570		T	145108284	G	T	145108284	3	4	81	1	0	0	0	0	1	0	0	0	10893	1203	42	2	1201	2	OPLAH	8	145108284	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	115826	145108284	1255738	21	5741											
NDUFB6	4712	mdanderson.org	37	chr9	32558939	32558939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggacttcttttcaactatgCcatatggtttttcctgtaat	8	19	6	8	0	2	0	1	0	1	0	3	1	3	1	2	2	2	2	2	2	4	8			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr9:32558939C>T	ENST00000379847.3	-	3	388	c.287G>A	c.(286-288)gGc>gAc	p.G96D	TOPORS-AS1_ENST00000425533.1_RNA|NDUFB6_ENST00000350021.2_Intron|TOPORS-AS1_ENST00000458036.1_RNA	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	96					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		TTCAACTATGCCATATGGTTT	0.308																																					p.G96D													.	.			0			c.G287A												193	202	199					9																	32558939		2203	4300	6503	SO:0001583	missense	4712	exon3			ACTATGCCATATG	AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"Mitochondrial respiratory chain complex / Complex I"	7701	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase beta subunit, 6", "NADH-ubiquinone oxidoreductase B17 subunit", "complex I, mitochondrial respiratory chain, B17 subunit"	603322	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.287G>A	9.37:g.32558939C>T	ENSP00000369176:p.Gly96Asp		61	0	0		45	0.07	3	NM_002493	149	0	0	A8K0Y7|Q5VYT2|Q6IB84	Missense_Mutation	SNP	ENST00000379847.3	37	CCDS6528.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775400	0.31411	.	.	ENSG00000165264	ENST00000379847	.	.	.	5.58	1.27	0.21489	.	0.720818	0.13555	N	0.379193	T	0.64702	0.2622	L	0.52573	1.65	0.80722	D	1	D	0.54772	0.968	P	0.55303	0.773	T	0.66148	-0.5996	9	0.52906	T	0.07	-22.9869	15.5088	0.75764	0.0:0.685:0.315:0.0	.	96	O95139	NDUB6_HUMAN	D	96	.	ENSP00000369176:G96D	G	-	2	0	NDUFB6	32548939	0.346000	0.24844	0.970000	0.41538	0.127000	0.20565	-0.421000	0.07053	0.252000	0.21531	-0.256000	0.11100	GGC			0.308	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052001.1		NM_002493		T	32558939	C	T	32558939	3	4	81	1	0	0	0	0	1	0	0	0	10302	739	26	2	107	2	NDUFB6	9	32558939	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10		32558939	108654492	22	5742											
PHF19	26147	mdanderson.org	37	chr9	123631480	123631480	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccgggcccgccgcagtaGcagtagcattgctgctggtt	5	10	13	13	3	1	0	0	0	1	0	2	0	1	0	3	2	4	8	3	2	2	4			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr9:123631480G>A	ENST00000373896.3	-	6	846	c.594C>T	c.(592-594)tgC>tgT	p.C198C	PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000419155.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	198					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGCCGCAGTAGCAGTAGCATT	0.682																																					p.C198C													.	.			0			c.C594T												23	20	21					9																	123631480		2203	4300	6503	SO:0001819	synonymous_variant	26147	exon6			GCAGTAGCAGTAG	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.594C>T	9.37:g.123631480G>A			80	0	0		47	0.06	3	NM_015651	21	0	0	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	ENST00000373896.3	37	CCDS35116.1																																																																																					0.682	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053838.3		XM_045308		A	123631480	G	A	123631480	2	1	81	1	0	0	0	0	0	0	0	1	11846	963	34	2		2	PHF19	9	123631480	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	91072541	123631480	17581951	23	5743											
SLC2A6	11182	mdanderson.org	37	chr9	136342253	136342253	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccgccatgagcgcataGccggccgccgacggcacagc	8	2	13	18	6	0	1	0	1	0	0	0	2	0	1	5	2	3	3	5	2	1	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr9:136342253G>T	ENST00000371899.4	-	3	443	c.366C>A	c.(364-366)ggC>ggA	p.G122G	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.G122G	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	122					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGAGCGCATAGCCGGCCGCCG	0.682																																					p.G122G													.	.			0			c.C366A												14	14	14					9																	136342253		1928	3706	5634	SO:0001819	synonymous_variant	11182	exon3			CGCATAGCCGGCC	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.366C>A	9.37:g.136342253G>T			63	0	0		53	0.06	3	NM_017585	21	0	0	A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	CCDS6975.1																																																																																					0.682	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054909.1		NM_017585		T	136342253	G	T	136342253	2	4	81	1	0	0	0	0	0	0	0	1	14572	958	34	2		2	SLC2A6	9	136342253	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	12710773	136342253	4871178	24	5744											
RRP12	23223	mdanderson.org	37	chr10	99133626	99133626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagatcttagattccactgtGctgcctgcctgagccaggtc	7	12	10	12	0	1	3	0	1	1	2	3	3	2	3	4	1	4	1	4	1	2	3			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr10:99133626G>A	ENST00000370992.4	-	16	1935	c.1824C>T	c.(1822-1824)agC>agT	p.S608S	RRP12_ENST00000315563.6_Silent_p.S508S|RRP12_ENST00000479481.1_5'Flank|RRP12_ENST00000414986.1_Silent_p.S547S|RRP12_ENST00000536831.1_Silent_p.S326S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	608						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ATTCCACTGTGCTGCCTGCCT	0.592																																					p.S608S													.	.			0			c.C1824T												130	80	97					10																	99133626		2203	4300	6503	SO:0001819	synonymous_variant	23223	exon16			CACTGTGCTGCCT		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1824C>T	10.37:g.99133626G>A			51	0	0		38	0.08	3	NM_015179	232	0	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																					0.592	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049699.4		NM_015179		A	99133626	G	A	99133626	2	1	81	1	0	0	0	0	0	0	0	1	13709	1310	46	2		2	RRP12	10	99133626	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		99133626	36401121	25	5745											
OR51M1	390059	mdanderson.org	37	chr11	5411095	5411095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccagcaagtggtcagagCaggcctaattgtcatcttcc	9	10	11	11	0	3	1	2	0	1	1	4	1	4	1	3	3	2	2	3	3	2	3			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr11:5411095C>T	ENST00000328611.3	+	1	489	c.467C>T	c.(466-468)gCa>gTa	p.A156V	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	156					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)		GTGGTCAGAGCAGGCCTAATT	0.547																																					p.A156V													.	.			0			c.C467T												214	206	209					11																	5411095		2036	4215	6251	SO:0001583	missense	390059	exon1			TCAGAGCAGGCCT	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.467C>T	11.37:g.5411095C>T	ENSP00000333196:p.Ala156Val		55	0	0		36	0.08	3	NM_001004756	0		0	Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	6.876	0.531039	0.13127	.	.	ENSG00000184698	ENST00000328611	T	0.35421	1.31	5.26	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.797298	0.10192	N	0.704456	T	0.18467	0.0443	N	0.11845	0.185	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.20107	-1.0285	10	0.41790	T	0.15	.	3.1778	0.06575	0.2044:0.482:0.0:0.3136	.	145	Q9H341	O51M1_HUMAN	V	156	ENSP00000333196:A156V	ENSP00000333196:A156V	A	+	2	0	OR51M1	5367671	0.000000	0.05858	0.013000	0.15412	0.172000	0.22775	-0.239000	0.08965	0.677000	0.31305	0.655000	0.94253	GCA			0.547	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142981.1		NM_001004756		T	5411095	C	T	5411095	3	4	81	1	0	0	0	0	1	0	0	0	11120	710	25	2	469	2	OR51M1	11	5411095	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10		5411095	129595421	26	5746											
OR52D1	390066	hgsc.bcm.edu;broad.mit.edu	37	chr11	5510157	5510158	+	In_Frame_Ins	INS	-	-	GGC																															cttctctcactcacagacctINSggctctcagttctaccactg																										TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr11:5510157_5510158insGGC	ENST00000322641.5	+	1	243_244	c.221_222insGGC	c.(220-225)ctggct>ctGGCggct	p.75_76insA	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	75					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACAGACCTGGCTCTCAGTT	0.525																																					p.L74delinsLA													.	OR52D1	66		0			c.221_222insGGC																																									SO:0001652	inframe_insertion	390066	exon1			CAGACCTGGCTCT	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.222_224dupGGC	11.37:g.5510158_5510160dupGGC	ENSP00000326232:p.Ala75_Ala75dup		198	0	0		155	0.09	14	NM_001005163	0		0	B9EGY9|Q6IFI6	In_Frame_Ins	INS	ENST00000322641.5	37	CCDS31384.1																																																																																					0.525	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143372.1		NM_001005163		GGC	5510158	-	GGC	5510157	7	5	81	1	0	1	1	0	0	0	0	0	11131	1580	55	0	223	0	OR52D1	11	5510157	In_Frame_Ins	INS	-	TCGA-2X-A9D6-01A-11D-A435-10	99062	5510157	129496359	27	5747											
USH1C	10083	mdanderson.org	37	chr11	17531263	17531263	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcttggggggatagtaGaacatgtccaaagggatgtc	11	9	16	5	0	1	1	0	0	1	1	3	4	2	4	1	5	1	1	1	5	4	3			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr11:17531263G>T	ENST00000318024.4	-	15	1393				USH1C_ENST00000005226.7_Missense_Mutation_p.F551L|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGGGATAGTAGAACATGTCCA	0.637																																					p.F551L													.	.			0			c.C1653A												27	29	28					11																	17531263		2200	4293	6493	SO:0001627	intron_variant	10083	exon18			ATAGTAGAACATG	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+7684C>A	11.37:g.17531263G>T			8	0	0		10	0.2	2	NM_153676	7	0	0	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968388	0.53614	.	.	ENSG00000006611	ENST00000005226	T	0.37584	1.19	5.57	4.66	0.58398	.	0.442738	0.22663	N	0.057167	T	0.26846	0.0657	.	.	.	0.28744	N	0.901785	B	0.02656	0.0	B	0.04013	0.001	T	0.15093	-1.0449	9	0.48119	T	0.1	.	8.9346	0.35691	0.1705:0.0:0.8295:0.0	.	551	Q7RTU8	.	L	551	ENSP00000005226:F551L	ENSP00000005226:F551L	F	-	3	2	USH1C	17487839	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.661000	0.37408	1.358000	0.45922	0.591000	0.81541	TTC			0.637	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000389146.1		NM_005709		T	17531263	G	T	17531263	1	4	81	0	1	0	0	0	0	0	0	0	17058	933	33	3		3	USH1C	11	17531263	Intron	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	12021106	17531263	117475253	28	5748											
TUT1	64852	broad.mit.edu	37	chr11	62346492	62346492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgatggagattctggagccTttgggactggctgtggacag	7	10	17	7	1	1	1	0	0	1	1	1	6	1	4	1	5	1	1	1	5	0	2			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr11:62346492T>C	ENST00000476907.1	-	5	1392	c.701A>G	c.(700-702)aAg>aGg	p.K234R	MIR3654_ENST00000496634.2_Missense_Mutation_p.K234R|TUT1_ENST00000308436.7_Missense_Mutation_p.K272R			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	234	Pro-rich.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTCTGGAGCCTTTGGGACTGG	0.532																																					p.K272R													.	TUT1	122		0			c.A815G												25	29	28					11																	62346492		2202	4299	6501	SO:0001583	missense	0	exon5			GGAGCCTTTGGGA	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.701A>G	11.37:g.62346492T>C	ENSP00000419607:p.Lys234Arg		94	0	0		84	0.04	3	NM_022830	100	0	0	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37		.	.	.	.	.	.	.	.	.	.	T	15.12	2.740450	0.49045	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000278279	T;T	0.38560	1.13;1.13	5.54	5.54	0.83059	.	0.152448	0.42172	D	0.000747	T	0.55721	0.1938	L	0.53249	1.67	0.27678	N	0.94655	D	0.71674	0.998	D	0.80764	0.994	T	0.50725	-0.8794	10	0.21014	T	0.42	-0.6532	12.0785	0.53657	0.0:0.0:0.0:1.0	.	272	F5H0R1	.	R	272;234;95	ENSP00000308000:K272R;ENSP00000419607:K234R	ENSP00000441670:K234R	K	-	2	0	TUT1	62103068	0.997000	0.39634	0.566000	0.28421	0.619000	0.37552	3.640000	0.54350	2.109000	0.64355	0.460000	0.39030	AAG			0.532	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000351319.2		NM_022830		C	62346492	T	C	62346492	3	2	81	1	0	0	0	0	1	0	0	0	16804	1609	56	4	1943	4	TUT1	11	62346492	Missense_Mutation	SNP	T	TCGA-2X-A9D6-01A-11D-A435-10	44815229	62346492	72660024	29	5749											
MTA2	9219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	62367713	62367713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagacagacaacctttgcctCcacatttccatttgcagtct	11	12	5	13	0	1	2	0	0	1	2	3	2	3	2	4	0	3	1	4	0	2	3			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr11:62367713C>G	ENST00000278823.2	-	3	504	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	39	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						acctttgcctccacatttcca	0.433																																					p.E39Q													.	.			0			c.G115C												107	108	108					11																	62367713		2202	4299	6501	SO:0001583	missense	9219	exon3			TTGCCTCCACATT	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.115G>C	11.37:g.62367713C>G	ENSP00000278823:p.Glu39Gln		108	0	0		109	0.3	33	NM_004739	109	0.31	34	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808388	0.90707	.	.	ENSG00000149480	ENST00000278823	D	0.85955	-2.05	5.56	5.56	0.83823	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.92054	0.7482	M	0.81239	2.535	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.91951	0.5571	10	0.49607	T	0.09	-23.289	15.0452	0.71822	0.0:1.0:0.0:0.0	.	39	O94776	MTA2_HUMAN	Q	39	ENSP00000278823:E39Q	ENSP00000278823:E39Q	E	-	1	0	MTA2	62124289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.628000	0.61282	2.629000	0.89072	0.655000	0.94253	GAG			0.433	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395578.1		NM_004739		G	62367713	C	G	62367713	3	3	81	1	0	0	0	0	1	0	0	0	9925	864	30	5	1955	5	MTA2	11	62367713	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	21221	62367713	72638803	30	5750											
SLC25A45	283130	mdanderson.org	37	chr11	65144435	65144435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcccggaagatggaggctGcacagtgcacgggcccctgg	7	5	15	14	2	0	1	0	0	0	1	1	3	1	3	4	5	2	3	4	5	1	0			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr11:65144435G>A	ENST00000527174.1	-	5	507	c.452C>T	c.(451-453)gCa>gTa	p.A151V	SLC25A45_ENST00000398802.1_Missense_Mutation_p.A151V|SLC25A45_ENST00000377152.2_Missense_Mutation_p.A47V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.A109V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.A127V|SLC25A45_ENST00000417511.2_Missense_Mutation_p.A109V|SLC25A45_ENST00000360662.3_Missense_Mutation_p.A127V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.A89V|RP11-867O8.5_ENST00000533886.1_RNA			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	151					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						GATGGAGGCTGCACAGTGCAC	0.667																																					p.A151V													.	.			0			c.C452T												28	33	31					11																	65144435		1855	4091	5946	SO:0001583	missense	283130	exon6			GAGGCTGCACAGT	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.452C>T	11.37:g.65144435G>A	ENSP00000435489:p.Ala151Val		55	0	0		44	0.07	3	NM_182556	10	0	0	Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113081	0.37339	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.23	3.28	0.37604	Mitochondrial carrier domain (2);	0.278938	0.33534	N	0.004820	T	0.62295	0.2416	N	0.25060	0.705	0.36162	D	0.848205	B;B;B	0.15719	0.014;0.007;0.008	B;B;B	0.22753	0.041;0.012;0.02	T	0.57481	-0.7804	10	0.27082	T	0.32	-0.5286	8.6573	0.34071	0.2038:0.0:0.7962:0.0	.	89;127;151	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	V	151;127;151;127;47;109;109;89	ENSP00000435489:A151V;ENSP00000431769:A127V;ENSP00000381782:A151V;ENSP00000353879:A127V;ENSP00000366357:A47V;ENSP00000294187:A109V;ENSP00000407530:A109V;ENSP00000435547:A89V	ENSP00000294187:A109V	A	-	2	0	SLC25A45	64901011	0.004000	0.15560	0.397000	0.26308	0.839000	0.47603	1.749000	0.38319	0.631000	0.30412	0.561000	0.74099	GCA			0.667	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388744.3		NM_182556		A	65144435	G	A	65144435	3	1	81	1	0	0	0	0	1	0	0	0	14533	1319	46	2	422	2	SLC25A45	11	65144435	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	2776722	65144435	69862081	31	5751											
ZDHHC24	254359	mdanderson.org	37	chr11	66313361	66313361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcccgggaccgagCaccagcacgtaagccagctc	8	2	15	16	5	0	0	0	0	0	0	1	2	0	1	4	4	4	4	4	4	1	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr11:66313361C>T	ENST00000310442.3	-	1	348	c.114G>A	c.(112-114)gtG>gtA	p.V38V	ZDHHC24_ENST00000526986.1_Silent_p.V38V|ZDHHC24_ENST00000525925.1_5'UTR|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	38						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CGGGACCGAGCACCAGCACGT	0.766																																					p.V38V													.	.			0			c.G114A												2	3	3					11																	66313361		1608	3327	4935	SO:0001819	synonymous_variant	254359	exon1			ACCGAGCACCAGC	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.114G>A	11.37:g.66313361C>T			14	0	0		10	0.2	2	NM_207340	4	0	0	Q6PEW7|Q9BSJ0	Silent	SNP	ENST00000310442.3	37	CCDS8143.1																																																																																					0.766	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393089.1		NM_207340		T	66313361	C	T	66313361	2	4	81	1	0	0	0	0	0	0	0	1	17638	697	25	2		2	ZDHHC24	11	66313361	Silent	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	1168926	66313361	68693155	32	5752											
SFRS2IP	9169	mdanderson.org	37	chr12	46321423	46321423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctaggatgttcggtcagCgattcattcttttcttctaa	8	17	8	8	2	6	0	2	0	4	0	7	3	6	1	0	2	1	1	0	2	2	8			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr12:46321423C>T	ENST00000369367.3	-	11	2294	c.2061G>A	c.(2059-2061)tcG>tcA	p.S687S	SCAF11_ENST00000465950.1_Silent_p.S372S|SCAF11_ENST00000549162.1_Silent_p.S495S|SCAF11_ENST00000419565.2_Silent_p.S687S|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	687					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						GTTCGGTCAGCGATTCATTCT	0.318																																					p.S687S													SCAF11,colon,carcinoma,0,1	SCAF11	0	1	0			c.G2061A												151	154	153					12																	46321423		2203	4299	6502	SO:0001819	synonymous_variant	9169	exon11			GGTCAGCGATTCA	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.2061G>A	12.37:g.46321423C>T			48	0	0		49	0.06	3	NM_004719	70	0	0	A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	CCDS8748.2																																																																																					0.318	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313992.2		NM_004719		T	46321423	C	T	46321423	2	4	81	1	0	0	0	0	0	0	0	1	14200	755	27	1		1	SFRS2IP	12	46321423	Silent	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10		46321423	87530472	33	5753											
KNTC1	9735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	123107038	123107038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgattttgaataatatcatCaataagaaggagtttgggat	15	14	9	3	0	2	3	2	2	0	1	2	5	2	5	0	2	0	1	0	2	6	6			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr12:123107038C>G	ENST00000333479.7	+	62	6576	c.6399C>G	c.(6397-6399)atC>atG	p.I2133M	KNTC1_ENST00000450485.2_Missense_Mutation_p.I1058M|HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000534995.1_Missense_Mutation_p.I54M|KNTC1_ENST00000436959.3_Missense_Mutation_p.I54M	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2133					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATAATATCATCAATAAGAAGG	0.313																																					p.I2133M													KNTC1,NS,carcinoma,0,1	KNTC1	0	1	0			c.C6399G												44	41	42					12																	123107038		1831	4078	5909	SO:0001583	missense	9735	exon62			TATCATCAATAAG		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.6399C>G	12.37:g.123107038C>G	ENSP00000328236:p.Ile2133Met		138	0	0		146	0.1	14	NM_014708	194	0.25	48	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358575	0.24598	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000436959;ENST00000534995	T;T	0.24723	1.84;2.42	5.11	2.78	0.32641	.	0.286088	0.39210	N	0.001434	T	0.29684	0.0741	L	0.32530	0.975	0.80722	D	1	D;P	0.69078	0.997;0.668	D;B	0.64776	0.929;0.259	T	0.14309	-1.0477	10	0.72032	D	0.01	-9.5888	2.526	0.04691	0.6063:0.1646:0.0837:0.1455	.	1058;2133	E7ES84;P50748	.;KNTC1_HUMAN	M	1058;2133;54;54	ENSP00000397992:I1058M;ENSP00000328236:I2133M	ENSP00000328236:I2133M	I	+	3	3	KNTC1	121672991	0.923000	0.31300	0.652000	0.29579	0.421000	0.31385	0.973000	0.29422	0.381000	0.24851	-0.474000	0.04947	ATC			0.313	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396110.2				G	123107038	C	G	123107038	3	3	81	1	0	0	0	0	1	0	0	0	8443	816	29	5	6641	5	KNTC1	12	123107038	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	76785615	123107038	10744857	34	5754											
DACH1	1602	mdanderson.org	37	chr13	72440446	72440446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctactactGctgctgctgctgctgctgct	2	14	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	2			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr13:72440446G>A	ENST00000359684.2	-	1	461	c.462C>T	c.(460-462)agC>agT	p.S154S	DACH1_ENST00000354591.4_Silent_p.S154S|DACH1_ENST00000313174.7_Silent_p.S154S|DACH1_ENST00000305425.4_Silent_p.S154S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	154	Poly-Ser.				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)		tgctactactgctgctgctgc	0.662																																					p.S154S													.	.			0			c.C462T												3	4	4					13																	72440446		1701	3505	5206	SO:0001819	synonymous_variant	1602	exon1			ACTACTGCTGCTG	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.462C>T	13.37:g.72440446G>A			40	0.025	1		30	0.13	4	NM_080759	2	0	0	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37																																																																																						0.662	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000045240.1		NM_004392		A	72440446	G	A	72440446	2	1	81	1	0	0	0	0	0	0	0	1	4222	1310	46	2		2	DACH1	13	72440446	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		72440446	42729432	35	5755											
IRS2	8660	mdanderson.org	37	chr13	110436412	110436412	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgccgctcccactgccCgcgagggccgcgccgggcgt	3	4	15	19	7	0	0	0	0	0	0	1	1	1	0	5	2	3	2	5	2	0	0			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr13:110436412C>A	ENST00000375856.3	-	1	2503	c.1989G>T	c.(1987-1989)gcG>gcT	p.A663A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	663					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)			TCCCACTGCCCGCGAGGGCCG	0.701																																					p.A663A	Melanoma(100;613 2409 40847)												.	.			0			c.G1989T												10	10	10					13																	110436412		2162	4268	6430	SO:0001819	synonymous_variant	8660	exon1			ACTGCCCGCGAGG	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.1989G>T	13.37:g.110436412C>A			17	0	0		10	0.2	2	NM_003749	3	0	0	Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	CCDS9510.1																																																																																					0.701	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045755.1		NM_003749		A	110436412	C	A	110436412	2	1	81	1	0	0	0	0	0	0	0	1	7856	639	23	1		1	IRS2	13	110436412	Silent	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	37995966	110436412	4733466	36	5756											
SOLH	6650	mdanderson.org	37	chr16	602370	602370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgggccacgttcggcagCggcggccacctcagcctggg	4	6	15	16	5	1	0	1	0	0	0	3	0	2	0	5	5	2	2	5	5	0	2	rs75045595	byFrequency	TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr16:602370C>T	ENST00000219611.2	+	11	2940	c.2577C>T	c.(2575-2577)agC>agT	p.S859S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	859					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)										CGTTCGGCAGCGGCGGCCACC	0.697													c|||	4	0.000798722	0	0	5008	,	,		13943	0		0.002	False		,,,				2504	0.002				p.S859S													.	.			0			c.C2577T												7	11	10					16																	602370		2042	4071	6113	SO:0001819	synonymous_variant	6650	exon11			CGGCAGCGGCGGC	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.2577C>T	16.37:g.602370C>T			26	0	0		22	0.14	3	NM_005632	39	0	0	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	CCDS10410.1																																																																																			0		0.697	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239271.1		NM_005632		T	602370	C	T	602370	2	4	81	1	0	0	0	0	0	0	0	1	14948	767	27	1		1	SOLH	16	602370	Silent	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10		602370	89752383	37	5757											
RSL1D1	26156	broad.mit.edu	37	chr16	11931765	11931765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttttttggagtctgtctcGcatcttttttccccagcgaa	5	17	8	11	2	3	0	0	0	3	0	5	2	4	1	2	1	1	2	2	1	1	6			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr16:11931765G>A	ENST00000571133.1	-	9	1424	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	RSL1D1_ENST00000542106.1_Missense_Mutation_p.A231V	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	451					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						agtctgtctcgcatctttttt	0.473																																					p.A451V													.	RSL1D1	40		0			c.C1352T												231	249	243					16																	11931765		2197	4300	6497	SO:0001583	missense	26156	exon9			TGTCTCGCATCTT	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1352C>T	16.37:g.11931765G>A	ENSP00000460871:p.Ala451Val		161	0	0		165	0.02	4	NM_015659	793	0	2	B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.175871	0.00312	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	.	.	.	4.43	-2.49	0.06403	.	0.980712	0.08343	N	0.960588	T	0.09862	0.0242	N	0.00926	-1.1	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.35674	-0.9779	9	0.02654	T	1	1.6828	8.979	0.35953	0.5348:0.0:0.4652:0.0	.	451;451	Q32Q62;O76021	.;RL1D1_HUMAN	V	450;451;231	.	ENSP00000347897:A450V	A	-	2	0	RSL1D1	11839266	0.016000	0.18221	0.026000	0.17262	0.009000	0.06853	-0.302000	0.08221	-0.522000	0.06417	-1.008000	0.02478	GCG			0.473	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252059.2		NM_015659		A	11931765	G	A	11931765	3	1	81	1	0	0	0	0	1	0	0	0	13723	1087	38	1	124	1	RSL1D1	16	11931765	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	11329395	11931765	78422988	38	5758											
NOD2	64127	mdanderson.org	37	chr16	50733757	50733757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggccagccattgtcaggagGctccacagccatgtggagaa	10	6	13	12	1	1	1	1	0	0	1	2	3	2	2	4	4	2	1	4	4	1	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr16:50733757G>T	ENST00000300589.2	+	2	537	c.432G>T	c.(430-432)agG>agT	p.R144S	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	144	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)				TTGTCAGGAGGCTCCACAGCC	0.612																																					p.R144S													.	.			0			c.G432T												55	53	53					16																	50733757		2198	4300	6498	SO:0001583	missense	64127	exon2			CAGGAGGCTCCAC	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.432G>T	16.37:g.50733757G>T	ENSP00000300589:p.Arg144Ser		44	0	0		32	0.09	3	NM_022162	6	0	0	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055019	0.36277	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.19806	2.45;2.12	5.29	1.78	0.24846	DEATH-like (2);Caspase Recruitment (2);	0.118192	0.38058	N	0.001822	T	0.14184	0.0343	L	0.56769	1.78	0.37205	D	0.904546	P	0.43231	0.801	B	0.31946	0.138	T	0.18304	-1.0341	10	0.27082	T	0.32	.	6.421	0.21744	0.693:0.0:0.307:0.0	.	144	Q9HC29	NOD2_HUMAN	S	117;117;144	ENSP00000431681:R117S;ENSP00000300589:R144S	ENSP00000300589:R144S	R	+	3	2	NOD2	49291258	0.999000	0.42202	1.000000	0.80357	0.490000	0.33462	0.541000	0.23207	0.310000	0.22990	-0.469000	0.05056	AGG			0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256876.2		NM_022162		T	50733757	G	T	50733757	3	4	81	1	0	0	0	0	1	0	0	0	10534	1194	42	2	438	2	NOD2	16	50733757	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	38801992	50733757	39620996	39	5759											
SMPD3	55512	mdanderson.org	37	chr16	68395599	68395599	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctccttccgccccttctgGcccgagctcttgctggtggg	2	11	12	16	2	2	0	0	0	2	0	4	1	4	0	5	3	3	3	5	3	0	3			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr16:68395599G>T	ENST00000219334.5	-	8	2376	c.1773C>A	c.(1771-1773)ggC>ggA	p.G591G	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Silent_p.G583G|SMPD3_ENST00000568373.1_Silent_p.G574G	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	591					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCCCCTTCTGGCCCGAGCTCT	0.662																																					p.G591G													.	.			0			c.C1773A												56	46	49					16																	68395599		2198	4300	6498	SO:0001819	synonymous_variant	55512	exon8			CTTCTGGCCCGAG	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1773C>A	16.37:g.68395599G>T			55	0	0		39	0.08	3	NM_018667	15	0	0	B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	37	CCDS10867.1																																																																																					0.662	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268895.3		NM_018667		T	68395599	G	T	68395599	2	4	81	1	0	0	0	0	0	0	0	1	14829	1190	42	2		2	SMPD3	16	68395599	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	17661842	68395599	21959154	40	5760											
ATP2C2	9914	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	84456001	84456001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttgctctcctaggtcacGgacctcttggtggatgaatc	6	12	10	13	1	3	1	1	1	2	0	5	3	3	3	3	4	1	1	3	4	2	3	rs200504983	byFrequency	TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr16:84456001G>A	ENST00000262429.4	+	8	719	c.630G>A	c.(628-630)acG>acA	p.T210T	ATP2C2_ENST00000416219.2_Silent_p.T210T|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	210					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						CCTAGGTCACGGACCTCTTGG	0.537													G|||	3	0.000599042	0.0015	0	5008	,	,		18513	0		0.001	False		,,,				2504	0				p.T210T													.	ATP2C2	75		0			c.G630A							G		0,3904		0,0,1952	88	92	91		630	-5.4	1	16		91	2,8280		0,2,4139	no	coding-synonymous	ATP2C2	NM_014861.2		0,2,6091	AA,AG,GG		0.0241,0.0,0.0164		210/947	84456001	2,12184	1952	4141	6093	SO:0001819	synonymous_variant	9914	exon8			GGTCACGGACCTC	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.630G>A	16.37:g.84456001G>A			129	0.007751938	1		101	0.18	18	NM_014861	0		0	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	CCDS42207.1																																																																																					0.537	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433404.1		NM_014861		A	84456001	G	A	84456001	2	1	81	1	0	0	0	0	0	0	0	1	1144	1103	39	1		1	ATP2C2	16	84456001	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	16060402	84456001	5898752	41	5761											
FAM83G	644815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	18882003	18882003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccacagagggcagcacaaTaggctccggctccggttcct	9	6	12	14	2	0	1	0	0	0	1	3	2	3	1	4	4	1	5	4	4	2	2			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr17:18882003T>C	ENST00000388995.6	-	5	1199	c.976A>G	c.(976-978)Att>Gtt	p.I326V	SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.I326V|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.I326V|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	326					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCAGCACAATAGGCTCCGGC	0.602																																					p.I326V													.	.			0			c.A976G												78	90	86					17																	18882003		2079	4190	6269	SO:0001583	missense	644815	exon5			GCACAATAGGCTC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.976A>G	17.37:g.18882003T>C	ENSP00000373647:p.Ile326Val		118	0	0		58	0.14	8	NM_001039999	12	0.08	1	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	T	0.192	-1.052536	0.01981	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.10573	2.86;2.86	4.86	1.37	0.22104	.	0.371554	0.25535	N	0.030015	T	0.05318	0.0141	N	0.25201	0.72	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44726	-0.9309	10	0.09843	T	0.71	-5.8483	5.2311	0.15422	0.1479:0.4236:0.0:0.4285	.	326	A6ND36	FA83G_HUMAN	V	326	ENSP00000373647:I326V;ENSP00000343279:I326V	ENSP00000343279:I326V	I	-	1	0	FAM83G	18822728	0.000000	0.05858	0.264000	0.24511	0.417000	0.31264	-0.247000	0.08866	-0.046000	0.13446	0.260000	0.18958	ATT			0.602	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253108.4				C	18882003	T	C	18882003	3	2	81	1	0	0	0	0	1	0	0	0	5652	1406	49	4	1503	4	FAM83G	17	18882003	Missense_Mutation	SNP	T	TCGA-2X-A9D6-01A-11D-A435-10		18882003	62313207	42	5762											
ALDH3A1	218	mdanderson.org	37	chr17	19642929	19642929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgggcagcacaggcccGaagatctcctcttgcatcac	10	7	10	14	2	3	1	1	0	2	1	4	3	3	1	2	2	2	3	2	2	1	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr17:19642929G>T	ENST00000457500.2	-	7	1337	c.1008C>A	c.(1006-1008)ttC>ttA	p.F336L	RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.F272L|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.F336L|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.F263L|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.F336L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	336					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GCACAGGCCCGAAGATCTCCT	0.632																																					p.F336L													.	.			0			c.C1008A												68	57	61					17																	19642929		2203	4300	6503	SO:0001583	missense	218	exon7			AGGCCCGAAGATC	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1008C>A	17.37:g.19642929G>T	ENSP00000411821:p.Phe336Leu		48	0	0		39	0.08	3	NM_001135168	0		0	A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268765	0.59540	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	D;D;D;D;D	0.90563	-2.69;-2.31;-2.69;-2.69;-2.69	4.82	-9.65	0.00537	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.95207	0.8446	H	0.97077	3.935	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	D	0.95048	0.8184	10	0.87932	D	0	-36.3952	11.3327	0.49485	0.3734:0.0:0.5305:0.0961	.	336;453;336	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	L	336;272;394;336;336;263;336	ENSP00000225740:F336L;ENSP00000378923:F272L;ENSP00000388469:F336L;ENSP00000411821:F336L;ENSP00000389766:F336L	ENSP00000225740:F336L	F	-	3	2	ALDH3A1	19583521	0.000000	0.05858	0.076000	0.20297	0.675000	0.39556	-1.824000	0.01708	-2.518000	0.00499	-1.578000	0.00866	TTC			0.632	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132265.4		NM_000691		T	19642929	G	T	19642929	3	4	81	1	0	0	0	0	1	0	0	0	497	1049	37	1	369	1	ALDH3A1	17	19642929	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	760926	19642929	61552281	43	5763											
NF1	4763	hgsc.bcm.edu;broad.mit.edu	37	chr17	29486050	29486051	+	Frame_Shift_Del	DEL	AA	AA	-																															aatatttggagaagctgctgAaaaaaatttatatctctctc																										TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	AA	AA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr17:29486050_29486051delAA	ENST00000358273.4	+	3	610_611	c.227_228delAA	c.(226-228)gaafs	p.E76fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.E76fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.E76fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	76					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)|p.E76fs*31(1)	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)		GAAGCTGCTGAAAAAAATTTAT	0.327			"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)																											p.76_76del			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.,1	NF1	1586		13	Whole gene deletion(8)|Unknown(4)|Insertion - Frameshift(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)	c.226_227del																																									SO:0001589	frameshift_variant	4763	exon3	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	CTGCTGAAAAAAA		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.227_228delAA	17.37:g.29486054_29486055delAA	ENSP00000351015:p.Glu76fs		47	0	0		60	0.17	10	NM_001042492	8	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																					0.327	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256351.2		NM_000267		-	29486051	AA	-	29486050	7	5	81	1	0	1	0	1	0	0	0	0	10373	246	9	0	237	0	NF1	17	29486050	Frame_Shift_Del	DEL	AA	TCGA-2X-A9D6-01A-11D-A435-10	9843121	29486050	51709160	44	5764											
XYLT2	64132	mdanderson.org	37	chr17	48431836	48431836	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatggatggccccccggtGcgaatcgcctacatgctggt	6	8	12	15	3	0	0	0	0	0	0	1	2	0	1	5	4	3	1	5	4	2	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr17:48431836G>T	ENST00000017003.2	+	3	745	c.696G>T	c.(694-696)gtG>gtT	p.V232V	XYLT2_ENST00000507602.1_Silent_p.V232V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	232					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)					GCCCCCCGGTGCGAATCGCCT	0.622																																					p.V232V													.	.			0			c.G696T												35	36	36					17																	48431836		2203	4300	6503	SO:0001819	synonymous_variant	64132	exon3			CCCGGTGCGAATC	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.696G>T	17.37:g.48431836G>T			42	0	0		23	0.13	3	NM_022167	49	0	0	Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	CCDS11563.1																																																																																					0.622	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367046.1		NM_022167		T	48431836	G	T	48431836	2	4	81	1	0	0	0	0	0	0	0	1	17488	1306	46	2		2	XYLT2	17	48431836	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	18945786	48431836	32763374	45	5765											
TMEM49	81671	mdanderson.org	37	chr17	57886171	57886171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacaggactttgcctcccgGgccaaactggcagttcaaaa	11	9	9	12	1	1	0	1	0	0	0	2	1	2	1	3	3	3	2	3	3	4	3			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr17:57886171G>A	ENST00000262291.4	+	8	1039	c.729G>A	c.(727-729)cgG>cgA	p.R243R	VMP1_ENST00000537567.1_Silent_p.R109R|VMP1_ENST00000545362.1_Silent_p.R187R|VMP1_ENST00000536180.1_Silent_p.R146R|VMP1_ENST00000539763.1_Silent_p.R51R	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	243					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						TTGCCTCCCGGGCCAAACTGG	0.353																																					p.R243R													.	.			0			c.G729A												81	81	81					17																	57886171		2203	4300	6503	SO:0001819	synonymous_variant	81671	exon8			CTCCCGGGCCAAA		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.729G>A	17.37:g.57886171G>A			51	0	0		33	0.09	3	NM_030938	130	0	0	B4DVV9|Q9H0P4|Q9P089	Silent	SNP	ENST00000262291.4	37	CCDS11619.1																																																																																					0.353	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448793.1		NM_030938		A	57886171	G	A	57886171	2	1	81	1	0	0	0	0	0	0	0	1	16196	1219	43	3		3	TMEM49	17	57886171	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	9454335	57886171	23309039	46	5766											
BAHCC1	57597	mdanderson.org	37	chr17	79408982	79408982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagccgggatcgagaccggGgtgaggcaggctccctgcag	7	4	18	12	3	0	2	0	1	0	1	2	4	1	3	3	5	2	4	3	5	0	0			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr17:79408982G>T	ENST00000307745.7	+	9	607	c.607G>T	c.(607-609)Ggt>Tgt	p.G203C																								TCGAGACCGGGGTGAGGCAGG	0.711																																					.													.	.			0			.												26	32	30					17																	79408982		1957	4132	6089	SO:0001583	missense	57597	.			GACCGGGGTGAGG																												ENST00000307745.7:c.607G>T	17.37:g.79408982G>T	ENSP00000303486:p.Gly203Cys		142	0	0		74	0.07	5	.	17	0	0		Missense_Mutation	SNP	ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	g	13.18	2.159052	0.38119	.	.	ENSG00000171282	ENST00000307745	T	0.20332	2.08	3.17	2.18	0.27775	.	.	.	.	.	T	0.20780	0.0500	L	0.43152	1.355	0.24863	N	0.992339	D	0.55172	0.97	P	0.47206	0.541	T	0.11203	-1.0597	9	0.87932	D	0	.	5.5857	0.17274	0.1575:0.0:0.8425:0.0	.	203	Q9P281	BAHC1_HUMAN	C	203	ENSP00000303486:G203C	ENSP00000303486:G203C	G	+	1	0	AC110285.1	77023577	1.000000	0.71417	0.526000	0.27913	0.446000	0.32137	4.655000	0.61476	0.881000	0.35993	0.298000	0.19748	GGT			0.711	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding						T	79408982	G	T	79408982	3	4	81	1	0	0	0	0	1	0	0	0	1296	1232	43	3	456	3	BAHCC1	17	79408982	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	21522811	79408982	1786228	47	5767											
LPHN1	22859	mdanderson.org	37	chr19	14268080	14268080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctcatactgagtcttgtCgatcccgaccaggaagagca	11	8	9	13	2	2	2	1	1	1	1	4	5	3	3	3	1	2	1	3	1	2	2	rs370012631		TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr19:14268080C>T	ENST00000340736.6	-	15	3040	c.2743G>A	c.(2743-2745)Gac>Aac	p.D915N	LPHN1_ENST00000361434.3_Missense_Mutation_p.D910N|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	915					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						TGAGTCTTGTCGATCCCGACC	0.637																																					p.D915N													LPHN1,NS,carcinoma,0,1	LPHN1	0	1	0			c.G2743A							C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	131	119	123		2743,2728	3.6	0.9	19		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LPHN1	NM_001008701.2,NM_014921.4	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	915/1475,910/1470	14268080	1,13005	2203	4300	6503	SO:0001583	missense	22859	exon15			TCTTGTCGATCCC	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.2743G>A	19.37:g.14268080C>T	ENSP00000340688:p.Asp915Asn		35	0	0		40	0.08	3	NM_001008701	161	0.01	1	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	0.316	-0.964967	0.02249	0.0	1.16E-4	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.37235	1.21;1.21	4.62	3.57	0.40892	GPCR, family 2-like (1);	0.054782	0.64402	D	0.000001	T	0.17238	0.0414	N	0.11284	0.12	0.54753	D	0.999987	P;P	0.43701	0.632;0.815	B;B	0.39299	0.296;0.244	T	0.04268	-1.0964	10	0.07325	T	0.83	.	12.0269	0.53375	0.1744:0.8256:0.0:0.0	.	910;915	O94910-2;O94910	.;LPHN1_HUMAN	N	915;910	ENSP00000340688:D915N;ENSP00000355328:D910N	ENSP00000340688:D915N	D	-	1	0	LPHN1	14129080	1.000000	0.71417	0.890000	0.34922	0.295000	0.27426	4.871000	0.63042	1.036000	0.39998	0.491000	0.48974	GAC			0.637	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000459696.1		NM_014921		T	14268080	C	T	14268080	3	4	81	1	0	0	0	0	1	0	0	0	8931	884	31	1	1721	1	LPHN1	19	14268080	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10		14268080	44860903	48	5768											
SIPA1L3	23094	hgsc.bcm.edu	37	chr19	38673203	38673203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgctcaggtttacaaaaCtgccagtgcagagactcctc	10	8	8	15	1	1	1	1	0	0	1	3	2	2	1	4	1	4	3	4	1	3	2			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr19:38673203C>A	ENST00000222345.6	+	16	4762	c.4253C>A	c.(4252-4254)aCt>aAt	p.T1418N	CTB-102L5.7_ENST00000594299.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1418					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTTTACAAAACTGCCAGTGCA	0.537																																					p.T1418N													.	.			0			c.C4253A												93	106	102					19																	38673203		2203	4300	6503	SO:0001583	missense	23094	exon16			ACAAAACTGCCAG	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4253C>A	19.37:g.38673203C>A	ENSP00000222345:p.Thr1418Asn		146	0	0		123	0.04	5	NM_015073	45	0	0	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999080	0.35226	.	.	ENSG00000105738	ENST00000222345	T	0.76448	-1.02	5.28	4.25	0.50352	.	0.320791	0.28052	N	0.016796	T	0.69305	0.3096	L	0.46157	1.445	0.32404	N	0.551564	B	0.18610	0.029	B	0.15052	0.012	T	0.71381	-0.4610	10	0.51188	T	0.08	-5.1979	9.0596	0.36427	0.0:0.7688:0.149:0.0822	.	1418	O60292	SI1L3_HUMAN	N	1418	ENSP00000222345:T1418N	ENSP00000222345:T1418N	T	+	2	0	SIPA1L3	43365043	0.847000	0.29606	0.746000	0.31095	0.722000	0.41435	1.562000	0.36353	1.218000	0.43458	0.555000	0.69702	ACT			0.537	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000156294.2		XM_032278		A	38673203	C	A	38673203	3	1	81	1	0	0	0	0	1	0	0	0	14354	565	20	3	4307	3	SIPA1L3	19	38673203	Missense_Mutation	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	24405123	38673203	20455780	49	5769											
NKPD1	284353	mdanderson.org	37	chr19	45656858	45656858	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgccaggcgctaaagcgGatgaaaaggaactgcacgtt	13	7	12	9	3	0	1	0	1	0	0	0	3	0	3	1	3	5	3	1	3	6	3			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr19:45656858G>T	ENST00000438936.2	-	3	382	c.171C>A	c.(169-171)atC>atA	p.I57I	NKPD1_ENST00000589776.1_Silent_p.I57I|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Silent_p.I279I|NKPD1_ENST00000429338.1_Silent_p.I57I			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	57	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGCTAAAGCGGATGAAAAGGA	0.662																																					p.I279I													.	.			0			c.C837A												12	15	14					19																	45656858		2091	4191	6282	SO:0001819	synonymous_variant	284353	exon4			AAAGCGGATGAAA	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.171C>A	19.37:g.45656858G>T			21	0	0		14	0.14	2	NM_198478	13	0	0	B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	ENST00000438936.2	37																																																																																						0.662	NKPD1-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000360950.2		NM_198478		T	45656858	G	T	45656858	2	4	81	1	0	0	0	0	0	0	0	1	10463	1164	41	3		3	NKPD1	19	45656858	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	6983655	45656858	13472125	50	5770											
TRIM28	10155	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	59060468	59060468	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccacccgtcttcaaggTcttcccaggcagtaccactg	8	8	8	17	1	3	0	1	0	2	0	4	0	4	0	5	2	2	2	5	2	2	3			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr19:59060468T>A	ENST00000253024.5	+	12	1812	c.1523T>A	c.(1522-1524)gTc>gAc	p.V508D	TRIM28_ENST00000341753.6_Missense_Mutation_p.V426D	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	508	HP1 box.				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)		GTCTTCAAGGTCTTCCCAGGC	0.617																																					p.V508D													TRIM28,NS,carcinoma,+1,1	TRIM28	1	1	0			c.T1523A												66	68	67					19																	59060468		2202	4299	6501	SO:0001583	missense	10155	exon12			TCAAGGTCTTCCC		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.1523T>A	19.37:g.59060468T>A	ENSP00000253024:p.Val508Asp		307	0	0		244	0.2	48	NM_005762	2245	0.44	977	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.730149	0.69074	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.75154	-0.66;-0.91	4.95	4.95	0.65309	.	0.000000	0.53938	D	0.000047	T	0.76300	0.3968	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.994;0.998	D;D;D	0.80764	0.994;0.937;0.987	T	0.79722	-0.1684	10	0.72032	D	0.01	-35.0716	12.8726	0.57972	0.0:0.0:0.0:1.0	.	426;508;508	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	D	508;426	ENSP00000253024:V508D;ENSP00000342232:V426D	ENSP00000253024:V508D	V	+	2	0	TRIM28	63752280	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	4.695000	0.61767	2.000000	0.58554	0.448000	0.29417	GTC			0.617	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467074.1		NM_005762		A	59060468	T	A	59060468	3	1	81	1	0	0	0	0	1	0	0	0	16526	1667	58	5	1569	5	TRIM28	19	59060468	Missense_Mutation	SNP	T	TCGA-2X-A9D6-01A-11D-A435-10	13403610	59060468	68515	51	5771											
CPXM1	56265	mdanderson.org	37	chr20	2778886	2778886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccatggatcggcgtcctGctcctcagcacaccaggctc	9	7	9	16	2	1	0	1	0	0	0	5	1	3	1	4	3	3	3	4	3	1	0			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr20:2778886G>T	ENST00000380605.2	-	4	566	c.502C>A	c.(502-504)Cag>Aag	p.Q168K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	168	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q168*(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCGGCGTCCTGCTCCTCAGCA	0.607																																					p.Q168K													CPXM1,NS,carcinoma,0,1	CPXM1	0	1	1	Substitution - Nonsense(1)	ovary(1)	c.C502A												66	64	65					20																	2778886		2203	4300	6503	SO:0001583	missense	56265	exon4			CGTCCTGCTCCTC	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.502C>A	20.37:g.2778886G>T	ENSP00000369979:p.Gln168Lys		39	0	0		47	0.06	3	NM_001184699	147	0	0	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512238	0.27036	.	.	ENSG00000088882	ENST00000380605	D	0.98192	-4.78	4.41	3.41	0.39046	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.294026	0.31922	N	0.006844	D	0.92306	0.7559	N	0.05330	-0.07	0.09310	N	0.999993	B;B	0.10296	0.003;0.001	B;B	0.17098	0.017;0.004	T	0.83216	-0.0071	10	0.24483	T	0.36	-10.1737	6.7184	0.23316	0.0:0.2059:0.6082:0.1859	.	168;168	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	K	168	ENSP00000369979:Q168K	ENSP00000369979:Q168K	Q	-	1	0	CPXM1	2726886	0.008000	0.16893	0.922000	0.36590	0.723000	0.41478	0.339000	0.19875	2.295000	0.77249	0.563000	0.77884	CAG			0.607	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077643.2		NM_019609		T	2778886	G	T	2778886	3	4	81	1	0	0	0	0	1	0	0	0	3839	1328	46	2	1746	2	CPXM1	20	2778886	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		2778886	60246634	52	5772											
OVOL2	58495	mdanderson.org	37	chr20	18037394	18037394	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgggggtttcgctctcgggGgcgtgcggggacgagctgct	2	9	20	10	6	1	0	0	0	1	0	4	2	1	1	0	6	3	4	0	6	0	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr20:18037394G>T	ENST00000278780.6	-	2	470	c.228C>A	c.(226-228)gcC>gcA	p.A76A	OVOL2_ENST00000483661.1_5'UTR|RP4-726N1.2_ENST00000429853.1_RNA	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	76					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CGCTCTCGGGGGCGTGCGGGG	0.726																																					p.A76A													.	.			0			c.C228A												4	5	4					20																	18037394		2033	4022	6055	SO:0001819	synonymous_variant	58495	exon2			CTCGGGGGCGTGC	AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"Zinc fingers, C2H2-type"	15804	protein-coding gene	gene with protein product			"zinc finger protein 339", "ovo-like 2 (Drosophila)"	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.228C>A	20.37:g.18037394G>T			26	0	0		11	0.18	2	NM_021220	5	0	0	Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	ENST00000278780.6	37	CCDS13132.1																																																																																					0.726	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078148.5		NM_021220		T	18037394	G	T	18037394	2	4	81	1	0	0	0	0	0	0	0	1	11344	1219	43	3		3	OVOL2	20	18037394	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	15258508	18037394	44988126	53	5773											
CSRP2BP	57325	mdanderson.org	37	chr20	18139746	18139746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaaaaagacgtctacctgGtggagcaccgtggcaggttg	11	7	15	8	2	1	1	0	0	1	1	1	3	1	3	2	5	2	3	2	5	3	2			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr20:18139746G>T	ENST00000435364.3	+	4	860	c.519G>T	c.(517-519)tgG>tgT	p.W173C	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.W45C|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.W173C	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	173					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CGTCTACCTGGTGGAGCACCG	0.458																																					p.W173C													.	.			0			c.G519T												64	63	63					20																	18139746		2203	4300	6503	SO:0001583	missense	57325	exon4			TACCTGGTGGAGC	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.519G>T	20.37:g.18139746G>T	ENSP00000392318:p.Trp173Cys		100	0	0		78	0.05	4	NM_020536	89	0	0	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206510	0.79127	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.34859	1.88;1.9;1.88;1.34	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.62586	-0.6823	10	0.87932	D	0	-6.1029	20.0149	0.97475	0.0:0.0:1.0:0.0	.	45;173	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	C	173;173;173;45	ENSP00000278816:W173C;ENSP00000366909:W173C;ENSP00000392318:W173C;ENSP00000425909:W45C	ENSP00000278816:W173C	W	+	3	0	CSRP2BP	18087746	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.254000	0.95512	2.793000	0.96121	0.650000	0.86243	TGG			0.458	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078152.5		NM_020536		T	18139746	G	T	18139746	3	4	81	1	0	0	0	0	1	0	0	0	3970	1270	44	3	533	3	CSRP2BP	20	18139746	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	102352	18139746	44885774	54	5774											
RALY	22913	broad.mit.edu	37	chr20	32664877	32664877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgccggcggcggcggCggtggtggtggcagcggtgg	1	5	26	9	7	0	0	0	0	0	0	0	0	0	0	1	12	1	1	1	12	0	0	rs539352667	byFrequency	TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr20:32664877C>T	ENST00000246194.3	+	8	1204	c.702C>T	c.(700-702)ggC>ggT	p.G234G	RALY_ENST00000375114.3_Silent_p.G218G	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	234	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						gcggcggcggcggtggtggtg	0.667																																					p.G234G													.	RALY	44		0			c.C702T												5	7	7					20																	32664877		2080	4086	6166	SO:0001819	synonymous_variant	22913	exon8			CGGCGGCGGTGGT	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.702C>T	20.37:g.32664877C>T			96	0.0104166667	1		75	0.05	4	NM_016732	170	0	0	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Silent	SNP	ENST00000246194.3	37	CCDS13230.1																																																																																					0.667	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078753.1				T	32664877	C	T	32664877	2	4	81	1	0	0	0	0	0	0	0	1	13042	755	27	1		1	RALY	20	32664877	Silent	SNP	C	TCGA-2X-A9D6-01A-11D-A435-10	14525131	32664877	30360643	55	5775											
MRPL40	64976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	19422334	19422334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggagcgcttgaaaaggaaGatccgaaaactggaaaaggc	18	4	13	6	2	0	2	0	1	0	1	1	6	1	5	1	4	2	1	1	4	8	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr22:19422334G>C	ENST00000333130.3	+	3	866	c.213G>C	c.(211-213)aaG>aaC	p.K71N	HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	71					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TGAAAAGGAAGATCCGAAAAC	0.358																																					p.K71N													.	.			0			c.G213C												94	98	97					22																	19422334		2203	4300	6503	SO:0001583	missense	64976	exon3			AAGGAAGATCCGA	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"Mitochondrial ribosomal proteins / large subunits"	14491	protein-coding gene	gene with protein product		605089	"nuclear localization signal deleted in velocardiofacial syndrome"	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.213G>C	22.37:g.19422334G>C	ENSP00000333401:p.Lys71Asn		133	0	0		115	0.1	12	NM_003776	181	0.2	36	B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908879	0.52439	.	.	ENSG00000185608	ENST00000333130	T	0.45276	0.9	4.45	0.0548	0.14312	.	0.210263	0.48286	D	0.000188	T	0.44456	0.1294	M	0.70595	2.14	0.28613	N	0.908588	P	0.35493	0.505	B	0.42319	0.383	T	0.49303	-0.8954	10	0.72032	D	0.01	-13.3201	9.6876	0.40109	0.3076:0.0:0.6924:0.0	.	71	Q9NQ50	RM40_HUMAN	N	71	ENSP00000333401:K71N	ENSP00000333401:K71N	K	+	3	2	MRPL40	17802334	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	1.636000	0.37144	0.232000	0.21100	0.563000	0.77884	AAG			0.358	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316491.2		NM_003776		C	19422334	G	C	19422334	3	2	81	1	0	0	0	0	1	0	0	0	9820	933	33	5	223	5	MRPL40	22	19422334	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		19422334	31882232	56	5776											
SLC35E4	339665	mdanderson.org	37	chr22	31042971	31042971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcgtggcctcctgggctGcccgtcgggggctgtggcgg	1	9	19	12	4	0	0	0	0	0	0	3	0	1	0	3	6	1	3	3	6	0	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr22:31042971G>T	ENST00000343605.4	+	2	1805	c.1006G>T	c.(1006-1008)Gcc>Tcc	p.A336S	SLC35E4_ENST00000300385.8_Intron|SLC35E4_ENST00000406566.1_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	336						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCCTGGGCTGCCCGTCGGGG	0.632																																					p.A336S													.	.			0			c.G1006T												45	40	42					22																	31042971		2203	4300	6503	SO:0001583	missense	339665	exon2			TGGGCTGCCCGTC		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"Solute carriers"	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.1006G>T	22.37:g.31042971G>T	ENSP00000339626:p.Ala336Ser		53	0	0		34	0.09	3	NM_001001479	20	0	0	Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146031	0.37923	.	.	ENSG00000100036	ENST00000343605	.	.	.	4.35	-0.385	0.12470	.	0.483471	0.21657	N	0.071096	T	0.22475	0.0542	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05666	-1.0871	9	0.12766	T	0.61	-17.6666	4.1664	0.10308	0.2864:0.0:0.5535:0.1601	.	336	Q6ICL7	S35E4_HUMAN	S	336	.	ENSP00000339626:A336S	A	+	1	0	SLC35E4	29372971	0.003000	0.15002	0.771000	0.31576	0.884000	0.51177	0.274000	0.18680	-0.076000	0.12775	0.561000	0.74099	GCC			0.632	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321382.1		XM_290973		T	31042971	G	T	31042971	3	4	81	1	0	0	0	0	1	0	0	0	14610	1319	46	2	1012	2	SLC35E4	22	31042971	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	11620637	31042971	20261595	57	5777											
CDC42EP1	11135	broad.mit.edu	37	chr22	37964340	37964340	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactccagcccccgctgcaaAccccccagcccctactgcaa	9	4	6	22	1	0	0	0	0	0	0	1	1	1	0	8	0	6	3	8	0	3	1			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr22:37964340A>C	ENST00000249014.4	+	3	1109	c.689A>C	c.(688-690)aAc>aCc	p.N230T		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	230	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				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)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCGCTGCAAACCCCCCAGCC	0.672																																					p.N230T													CDC42EP1,middle_lobe,carcinoma,0,1	CDC42EP1	53	1	0			c.A689C												17	21	20					22																	37964340		2184	4280	6464	SO:0001583	missense	11135	exon3			CTGCAAACCCCCC	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.689A>C	22.37:g.37964340A>C	ENSP00000249014:p.Asn230Thr		51	0.0980392157	5		46	0.15	7	NM_152243	112	0.02	2	A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	A	4.423	0.078246	0.08485	.	.	ENSG00000128283	ENST00000249014	T	0.31247	1.5	2.85	0.571	0.17352	.	3.264500	0.01892	N	0.038603	T	0.19725	0.0474	N	0.22421	0.69	0.09310	N	0.999999	B	0.30068	0.267	B	0.25291	0.059	T	0.12319	-1.0552	10	0.16420	T	0.52	-9.8417	6.2924	0.21067	0.7618:0.0:0.2382:0.0	.	230	Q00587	BORG5_HUMAN	T	230	ENSP00000249014:N230T	ENSP00000249014:N230T	N	+	2	0	CDC42EP1	36294286	0.000000	0.05858	0.006000	0.13384	0.095000	0.18619	-1.297000	0.02759	-0.037000	0.13646	0.459000	0.35465	AAC			0.672	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318993.1		NM_152243		C	37964340	A	C	37964340	3	2	81	1	0	0	0	0	1	0	0	0	3077	43	2	4	695	4	CDC42EP1	22	37964340	Missense_Mutation	SNP	A	TCGA-2X-A9D6-01A-11D-A435-10	6921369	37964340	13340226	58	5778											
TYMP	1890	mdanderson.org	37	chr22	50965054	50965054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcctgcgccgtccatGcagagcagcgcctcctccac	5	5	13	18	4	0	1	0	0	0	1	3	1	3	1	6	2	4	2	6	2	0	0			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chr22:50965054G>A	ENST00000252029.3	-	7	1041	c.879C>T	c.(877-879)tgC>tgT	p.C293C	CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000252785.3_5'Flank|TYMP_ENST00000395678.3_Silent_p.C293C|TYMP_ENST00000395680.1_Silent_p.C293C|SCO2_ENST00000543927.1_5'Flank|SCO2_ENST00000535425.1_5'Flank|TYMP_ENST00000395681.1_Silent_p.C293C|SCO2_ENST00000395693.3_5'Flank	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	293					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)	CGCCGTCCATGCAGAGCAGCG	0.731																																					p.C293C													.	.			0			c.C879T												10	9	9					22																	50965054		2163	4248	6411	SO:0001819	synonymous_variant	1890	exon6			GTCCATGCAGAGC	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.879C>T	22.37:g.50965054G>A			33	0	0		29	0.1	3	NM_001113756	261	0	0	A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	ENST00000252029.3	37	CCDS14096.1																																																																																					0.731	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317081.1		NM_001953		A	50965054	G	A	50965054	2	1	81	1	0	0	0	0	0	0	0	1	16835	1311	46	2		2	TYMP	22	50965054	Silent	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10	13000714	50965054	339512	59	5779											
CLDN2	9075	mdanderson.org	37	chrX	106172012	106172012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcatcctctgcttttcctGctcatcccagagaaatcgct	9	13	5	14	1	3	1	2	0	1	1	7	2	6	1	3	0	2	3	3	0	2	2			TCGA-2X-A9D6-01A-11D-A435-10	TCGA-2X-A9D6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b979e342-5eb9-45ee-a81e-0e39fb7ad8d8	a1cea35c-93b2-46a3-88f0-2115e5c0e5ed	g.chrX:106172012G>T	ENST00000541806.1	+	2	1073	c.554G>T	c.(553-555)tGc>tTc	p.C185F	CLDN2_ENST00000336803.1_Missense_Mutation_p.C185F|CLDN2_ENST00000540876.1_Missense_Mutation_p.C185F	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	185					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCTTTTCCTGCTCATCCCAG	0.498																																					p.C185F													.	.			0			c.G554T												139	134	136					X																	106172012		2203	4300	6503	SO:0001583	missense	9075	exon2			TTTCCTGCTCATC	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.554G>T	X.37:g.106172012G>T	ENSP00000441283:p.Cys185Phe		35	0	0		39	0.08	3	NM_001171092	0		0	B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535758	0.45176	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.88354	-2.37;-2.37;-2.37	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.90320	0.4344	10	0.62326	D	0.03	.	14.4779	0.67559	0.0:0.0:1.0:0.0	.	185	P57739	CLD2_HUMAN	F	185	ENSP00000441283:C185F;ENSP00000443230:C185F;ENSP00000336571:C185F	ENSP00000336571:C185F	C	+	2	0	CLDN2	106058668	1.000000	0.71417	0.878000	0.34440	0.530000	0.34684	9.692000	0.98682	2.085000	0.62840	0.529000	0.55759	TGC			0.498	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057815.1				T	106172012	G	T	106172012	3	4	81	1	0	0	0	0	1	0	0	0	3483	1319	46	2	556	2	CLDN2	23	106172012	Missense_Mutation	SNP	G	TCGA-2X-A9D6-01A-11D-A435-10		106172012	49098548	60	5780											
FBXO2	26232	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	11709267	11709267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtagaggcaaccagcgtcGctgcggcccgagtacctgct	7	7	13	14	5	0	1	0	0	0	1	2	2	0	1	3	2	5	5	3	2	3	2			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr1:11709267G>C	ENST00000354287.4	-	5	974	c.633C>G	c.(631-633)agC>agG	p.S211R	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	211	Carbohydrate binding. {ECO:0000250}.|FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		AACCAGCGTCGCTGCGGCCCG	0.667																																					p.S211R													.	.			0			c.C633G												12	11	11					1																	11709267		2135	4159	6294	SO:0001583	missense	26232	exon5			AGCGTCGCTGCGG	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"F-boxes /  "other""	13581	protein-coding gene	gene with protein product		607112	"F-box only protein 2", "organ of Corti protein 1"	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.633C>G	1.37:g.11709267G>C	ENSP00000346240:p.Ser211Arg		84	0	0		72	0.19	14	NM_012168	21	0.38	8	B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Missense_Mutation	SNP	ENST00000354287.4	37	CCDS130.1	.	.	.	.	.	.	.	.	.	.	G	8.958	0.969935	0.18659	.	.	ENSG00000116661	ENST00000354287	T	0.30448	1.53	4.29	-2.06	0.07298	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.670995	0.15642	N	0.251853	T	0.13329	0.0323	N	0.20986	0.625	0.26875	N	0.967658	B;B	0.15719	0.006;0.014	B;B	0.13407	0.009;0.008	T	0.18304	-1.0341	10	0.20519	T	0.43	.	1.6015	0.02675	0.2431:0.2366:0.3885:0.1318	.	179;211	A6NNP0;Q9UK22	.;FBX2_HUMAN	R	211	ENSP00000346240:S211R	ENSP00000346240:S211R	S	-	3	2	FBXO2	11631854	0.009000	0.17119	0.972000	0.41901	0.692000	0.40212	-1.488000	0.02308	-0.216000	0.10048	0.485000	0.47835	AGC			0.667	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005764.1		NM_012168		C	11709267	G	C	11709267	3	2	82	1	0	0	0	0	1	0	0	0	5745	1078	38	5	265	5	FBXO2	1	11709267	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		11709267	237541354	1	5781											
AKIRIN1	79647	mdanderson.org	37	chr1	39469060	39469060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcacacatgatcagattAtgcgacggtatgggacaagg	14	9	11	7	2	2	2	2	1	0	1	2	4	2	3	0	3	1	1	0	3	4	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr1:39469060A>G	ENST00000432648.3	+	4	696	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	AKIRIN1_ENST00000372984.4_Missense_Mutation_p.M133V|AKIRIN1_ENST00000446189.2_Missense_Mutation_p.M135V	NM_024595.2	NP_078871.1	Q9H9L7	AKIR1_HUMAN	akirin 1	180						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				lung(1)|prostate(1)|skin(1)	3						TGATCAGATTATGCGACGGTA	0.353																																					p.M180V													.	.			0			c.A538G												140	118	126					1																	39469060		2203	4300	6503	SO:0001583	missense	79647	exon4			CAGATTATGCGAC	AK022728	CCDS433.1, CCDS44113.1	1p34.3	2013-10-11	2008-06-23	2008-06-23	ENSG00000174574	ENSG00000174574			25744	protein-coding gene	gene with protein product		615164	"chromosome 1 open reading frame 108"	C1orf108		19200367	Standard	NM_024595		Approved	FLJ12666	uc001ccw.3	Q9H9L7	OTTHUMG00000007496	ENST00000432648.3:c.538A>G	1.37:g.39469060A>G	ENSP00000392678:p.Met180Val		57	0	0		48	0.06	3	NM_024595	232	0	0	B4DZU6|Q0VDB3|Q53FK8	Missense_Mutation	SNP	ENST00000432648.3	37	CCDS433.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861476	0.71949	.	.	ENSG00000174574	ENST00000432648;ENST00000446189;ENST00000372984	T	0.62105	0.05	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.82517	2.595	0.44061	D	0.996803	P;P;D	0.58268	0.679;0.566;0.982	P;B;D	0.68943	0.65;0.208;0.961	T	0.78718	-0.2095	10	0.34782	T	0.22	-8.9737	13.571	0.61847	1.0:0.0:0.0:0.0	.	133;135;180	B4DQP0;B4DZU6;Q9H9L7	.;.;AKIR1_HUMAN	V	180;135;133	ENSP00000392678:M180V	ENSP00000362075:M133V	M	+	1	0	AKIRIN1	39241647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.486000	0.66856	2.147000	0.66899	0.455000	0.32223	ATG			0.353	AKIRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019687.2		NM_024595		G	39469060	A	G	39469060	3	3	82	1	0	0	0	0	1	0	0	0	461	449	16	4	552	4	AKIRIN1	1	39469060	Missense_Mutation	SNP	A	TCGA-4K-AA1G-01A-11D-A435-10	27759793	39469060	209781561	2	5782											
PABPC4	8761	mdanderson.org	37	chr1	40030789	40030789	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacccacctgtgggactgCtggcacaaagtagccacccg	10	5	10	16	1	0	0	0	0	0	0	0	1	0	1	4	2	2	3	4	2	2	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr1:40030789C>A	ENST00000372857.3	-	8	2026	c.1234G>T	c.(1234-1236)Gca>Tca	p.A412S	PABPC4_ENST00000372856.3_Missense_Mutation_p.A412S|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.A412S|PABPC4_ENST00000372858.3_Missense_Mutation_p.A412S|SNORA55_ENST00000364587.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	412					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-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;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGTGGGACTGCTGGCACAAAG	0.532																																					p.A412S													.	.			0			c.G1234T												50	48	49					1																	40030789		2203	4300	6503	SO:0001583	missense	8761	exon8			GGACTGCTGGCAC	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1234G>T	1.37:g.40030789C>A	ENSP00000361948:p.Ala412Ser		62	0	0		40	0.08	3	NM_003819	360	0	0	B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.137295|4.137295	0.77775|0.77775	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856|ENST00000421687;ENST00000527718	T;T;T;T|.	0.15256|.	2.52;2.54;2.49;2.44|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.047358|.	0.85682|.	D|.	0.000000|.	T|T	0.70500|0.70500	0.3231|0.3231	L|L	0.46670|0.46670	1.46|1.46	0.80722|0.80722	D|D	1|1	D;B;B|.	0.63880|.	0.993;0.014;0.007|.	D;B;B|.	0.72625|.	0.978;0.036;0.011|.	T|T	0.63998|0.63998	-0.6510|-0.6510	10|5	0.45353|.	T|.	0.12|.	.|.	20.4239|20.4239	0.99064|0.99064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	412;412;412|.	Q13310;Q13310-2;Q4VC03|.	PABP4_HUMAN;.;.|.	S|H	412|313;138	ENSP00000361953:A412S;ENSP00000361949:A412S;ENSP00000361948:A412S;ENSP00000361947:A412S|.	ENSP00000361947:A412S|.	A|Q	-|-	1|3	0|2	PABPC4|PABPC4	39803376|39803376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.792000|7.792000	0.85828|0.85828	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	GCA|CAG			0.532	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000025220.1		NM_001135653		A	40030789	C	A	40030789	3	1	82	1	0	0	0	0	1	0	0	0	11383	797	28	2	780	2	PABPC4	1	40030789	Missense_Mutation	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10	561729	40030789	209219832	3	5783											
DPH2	1802	mdanderson.org	37	chr1	44438207	44438207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatgaggatgagggaagcgGctgataccatgtggggctgg	9	8	18	6	1	0	3	0	3	0	0	0	5	0	5	1	6	2	2	1	6	3	2			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr1:44438207G>T	ENST00000255108.3	+	6	1638	c.1466G>T	c.(1465-1467)gGc>gTc	p.G489V	DPH2_ENST00000396758.2_Missense_Mutation_p.G261V|ATP6V0B_ENST00000236067.4_5'Flank|ATP6V0B_ENST00000471859.2_5'Flank|ATP6V0B_ENST00000532642.1_5'Flank|DPH2_ENST00000412950.2_Missense_Mutation_p.G354V|ATP6V0B_ENST00000472174.2_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	489					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GAGGGAAGCGGCTGATACCAT	0.582																																					p.G489V													.	.			0			c.G1466T												120	99	106					1																	44438207		2203	4300	6503	SO:0001583	missense	1802	exon6			GAAGCGGCTGATA	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1466G>T	1.37:g.44438207G>T	ENSP00000255108:p.Gly489Val		83	0	0		49	0.06	3	NM_001384	115	0	0	A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	CCDS504.1	.	.	.	.	.	.	.	.	.	.	G	9.976	1.226775	0.22542	.	.	ENSG00000132768	ENST00000255108;ENST00000412950;ENST00000396758;ENST00000459879	.	.	.	5.12	3.25	0.37280	.	0.545938	0.20754	N	0.086289	T	0.22820	0.0551	N	0.08118	0	0.20196	N	0.999927	B;B;B	0.23058	0.01;0.079;0.01	B;B;B	0.23716	0.01;0.048;0.01	T	0.18587	-1.0332	9	0.59425	D	0.04	.	8.6657	0.34118	0.2525:0.0:0.7475:0.0	.	354;261;489	B4DNI8;A8MVC9;Q9BQC3	.;.;DPH2_HUMAN	V	489;354;261;262	.	ENSP00000255108:G489V	G	+	2	0	DPH2	44210794	0.746000	0.28272	0.815000	0.32552	0.071000	0.16799	1.584000	0.36589	0.559000	0.29153	0.484000	0.47621	GGC			0.582	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022832.1		NM_001384		T	44438207	G	T	44438207	3	4	82	1	0	0	0	0	1	0	0	0	4725	1203	42	2	1488	2	DPH2	1	44438207	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	4407418	44438207	204812414	4	5784											
PLK3	1263	mdanderson.org	37	chr1	45266604	45266604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagccgcgtcgccaagccGcatcagcgcgagaaggtggg	9	3	16	13	6	1	2	1	0	0	2	2	3	1	2	3	2	3	1	3	2	2	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr1:45266604G>A	ENST00000372201.4	+	2	542	c.303G>A	c.(301-303)ccG>ccA	p.P101P	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TCGCCAAGCCGCATCAGCGCG	0.672																																					p.P101P													.	.			0			c.G303A												26	29	28					1																	45266604		2202	4298	6500	SO:0001819	synonymous_variant	1263	exon2			CAAGCCGCATCAG	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.303G>A	1.37:g.45266604G>A			94	0	0		67	0.06	4	NM_004073	7	0	0	Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	CCDS515.1																																																																																					0.672	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023429.1		NM_004073		A	45266604	G	A	45266604	2	1	82	1	0	0	0	0	0	0	0	1	12114	1074	38	1		1	PLK3	1	45266604	Silent	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	828397	45266604	203984017	5	5785											
FGGY	55277	broad.mit.edu	37	chr1	59811958	59811958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatgtggctggaccatcGagcagtcagtcaagttaaca	12	9	10	10	1	3	0	3	0	0	0	4	2	3	1	1	2	2	3	1	2	2	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr1:59811958G>T	ENST00000303721.7	+	4	527	c.353G>T	c.(352-354)cGa>cTa	p.R118L	FGGY_ENST00000371218.4_Missense_Mutation_p.R118L|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	118					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTGGACCATCGAGCAGTCAGT	0.512																																					p.R118L													FGGY_ENST00000303721,colon,carcinoma,+1,2	FGGY	99	2	0			c.G353T												156	127	136					1																	59811958		2203	4300	6503	SO:0001583	missense	55277	exon4			ACCATCGAGCAGT		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.353G>T	1.37:g.59811958G>T	ENSP00000305922:p.Arg118Leu		154	0	0		100	0.03	3	NM_001113411	16	0	0	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	CCDS611.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065050	0.76187	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721	T;T;T	0.74421	-0.84;-0.84;-0.84	5.49	5.49	0.81192	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	H	0.97051	3.93	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	0.93609	0.6937	9	.	.	.	-12.6464	19.1799	0.93619	0.0:0.0:1.0:0.0	.	118;118;118	Q96C11-3;F2Z2V1;Q96C11	.;.;FGGY_HUMAN	L	118	ENSP00000406607:R118L;ENSP00000360262:R118L;ENSP00000305922:R118L	.	R	+	2	0	FGGY	59584546	1.000000	0.71417	0.998000	0.56505	0.239000	0.25481	8.580000	0.90784	2.857000	0.98124	0.650000	0.86243	CGA			0.512	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023210.2		NM_001113411		T	59811958	G	T	59811958	3	4	82	1	0	0	0	0	1	0	0	0	5884	1058	37	1	363	1	FGGY	1	59811958	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	14545354	59811958	189438663	6	5786											
LMO4	8543	broad.mit.edu;mdanderson.org	37	chr1	87797776	87797776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcggtgcgcaggctgCgggggcaagattgcggaccg	7	5	20	9	5	0	1	0	0	0	1	0	3	0	3	1	6	4	3	1	6	2	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr1:87797776C>T	ENST00000370544.5	+	2	858	c.78C>T	c.(76-78)tgC>tgT	p.C26C	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Silent_p.C26C	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	26	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GCGCAGGCTGCGGGGGCAAGA	0.682																																					p.C26C													.	LMO4	21		0			c.C78T												31	34	33					1																	87797776		2201	4299	6500	SO:0001819	synonymous_variant	8543	exon2			AGGCTGCGGGGGC	U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.78C>T	1.37:g.87797776C>T			109	0	0		74	0.05	4	NM_006769	172	0	0	D3DT23|O00158|O88894	Silent	SNP	ENST00000370544.5	37	CCDS713.1																																																																																					0.682	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000028264.2		NM_006769		T	87797776	C	T	87797776	2	4	82	1	0	0	0	0	0	0	0	1	8869	776	27	1		1	LMO4	1	87797776	Silent	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10	27985818	87797776	161452845	7	5787											
CD46	4179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	207941164	207941164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctccagcgtccagtgcCtcaggtttagtaatttcctg	9	13	8	11	1	2	0	1	0	1	0	5	0	4	0	4	1	2	2	4	1	3	4			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr1:207941164C>T	ENST00000358170.2	+	8	1098	c.942C>T	c.(940-942)gcC>gcT	p.A314A	CD46_ENST00000367047.1_Silent_p.A251A|CD46_ENST00000361067.1_Silent_p.A314A|CD46_ENST00000322918.5_Intron|CD46_ENST00000357714.1_Intron|CD46_ENST00000354848.1_Silent_p.A299A|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Silent_p.A299A|CD46_ENST00000360212.2_Intron|CD46_ENST00000441839.2_Silent_p.A299A|CD46_ENST00000322875.4_Silent_p.A314A|CD46_ENST00000367041.1_Intron|CD46_ENST00000367042.1_Silent_p.A299A	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	314	Ser/Thr-rich.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						CGTCCAGTGCCTCAGGTTTAG	0.343																																					p.A314A													.	.			0			c.C942T												99	101	100					1																	207941164		2203	4300	6503	SO:0001819	synonymous_variant	4179	exon8			CAGTGCCTCAGGT	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.942C>T	1.37:g.207941164C>T			110	0	0		109	0.28	31	NM_172359	74	0.26	19	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	ENST00000358170.2	37	CCDS1485.1																																																																																					0.343	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000088588.3		NM_172361		T	207941164	C	T	207941164	2	4	82	1	0	0	0	0	0	0	0	1	3020	668	24	3		3	CD46	1	207941164	Silent	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10	120143388	207941164	41309457	8	5788											
EPT1	85465	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	26596369	26596369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatctttggaagaggatcaActggtgtcagtgtttttgtt	8	16	11	6	0	3	1	2	0	1	1	3	3	3	3	1	3	1	2	1	3	2	4			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr2:26596369A>G	ENST00000260585.7	+	5	564	c.445A>G	c.(445-447)Act>Gct	p.T149A		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	149					glycerophospholipid biosynthetic process (GO:0046474)|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)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										AAGAGGATCAACTGGTGTCAG	0.408																																					.													.	.			0			.												176	176	176					2																	26596369		1915	4124	6039	SO:0001583	missense	85465	.			GGATCAACTGGTG		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"selenoprotein I"	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.445A>G	2.37:g.26596369A>G	ENSP00000260585:p.Thr149Ala		162	0.0061728395	1		167	0.23	39	.	23	0.43	10	Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096461	0.56075	.	.	ENSG00000138018	ENST00000442141;ENST00000260585	T	0.42900	0.96	5.97	4.82	0.62117	.	0.085714	0.85682	D	0.000000	T	0.35828	0.0945	L	0.55481	1.735	0.48452	D	0.999658	B	0.13594	0.008	B	0.17722	0.019	T	0.12243	-1.0555	10	0.18710	T	0.47	-29.5837	9.8149	0.40846	0.797:0.0:0.0:0.203	.	149	Q9C0D9	EPT1_HUMAN	A	117;149	ENSP00000260585:T149A	ENSP00000260585:T149A	T	+	1	0	EPT1	26449873	1.000000	0.71417	0.807000	0.32361	0.988000	0.76386	5.754000	0.68743	1.073000	0.40885	0.528000	0.53228	ACT			0.408	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding		OTTHUMT00000324484.3		NM_033505.2		G	26596369	A	G	26596369	3	3	82	1	0	0	0	0	1	0	0	0	5206	43	2	4	463	4	EPT1	2	26596369	Missense_Mutation	SNP	A	TCGA-4K-AA1G-01A-11D-A435-10		26596369	216603004	9	5789											
TLX2	3196	mdanderson.org	37	chr2	74743244	74743244	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaactcgtcgctcttcgcGctgcagaacctgcagccctg	7	8	9	17	4	1	1	0	0	1	1	4	1	1	1	2	0	5	4	2	0	2	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr2:74743244G>T	ENST00000233638.7	+	3	1106	c.783G>T	c.(781-783)gcG>gcT	p.A261A		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	261					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						CGCTCTTCGCGCTGCAGAACC	0.706																																					p.A261A	Esophageal Squamous(7;240 533 18610 24312)												.	.			0			c.G783T												15	15	15					2																	74743244		2117	4111	6228	SO:0001819	synonymous_variant	3196	exon3			CTTCGCGCTGCAG	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"Homeoboxes / ANTP class : NKL subclass"	5057	protein-coding gene	gene with protein product		604240	"homeo box 11-like 1", "T-cell leukemia, homeobox 2"	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.783G>T	2.37:g.74743244G>T			66	0	0		50	0.06	3	NM_016170	4	0	0	Q9UD56|Q9UQ48	Silent	SNP	ENST00000233638.7	37	CCDS1947.1																																																																																					0.706	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252224.3				T	74743244	G	T	74743244	2	4	82	1	0	0	0	0	0	0	0	1	15984	1074	38	1		1	TLX2	2	74743244	Silent	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	48146875	74743244	168456129	10	5790											
GLS	2744	mdanderson.org	37	chr2	191746158	191746158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagacggacgcgtttggCaacagcgagggcaaagagct	11	4	18	8	4	0	2	0	0	0	2	0	5	0	3	0	5	3	4	0	5	2	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr2:191746158C>T	ENST00000320717.3	+	1	606	c.348C>T	c.(346-348)ggC>ggT	p.G116G	AC005540.3_ENST00000413911.1_RNA|GLS_ENST00000338435.4_Silent_p.G116G	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	ACGCGTTTGGCAACAGCGAGG	0.716																																					p.G116G													.	.			0			c.C348T												13	18	16					2																	191746158		1502	2538	4040	SO:0001819	synonymous_variant	2744	exon1			GTTTGGCAACAGC	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.348C>T	2.37:g.191746158C>T			61	0	0		55	0.07	4	NM_014905	8	0	0	Q9UL05|Q9UL06|Q9UL07|Q9UN40	Silent	SNP	ENST00000320717.3	37	CCDS2308.1																																																																																					0.716	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255999.2				T	191746158	C	T	191746158	2	4	82	1	0	0	0	0	0	0	0	1	6477	697	25	2		2	GLS	2	191746158	Silent	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10	117002914	191746158	51453215	11	5791											
COLQ	8292	mdanderson.org	37	chr3	15516961	15516961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattggtcctcttgaccctgGcaagcccatcatacccaggt	8	10	8	15	0	2	1	1	1	1	0	3	1	3	1	4	3	2	1	4	3	2	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr3:15516961G>T	ENST00000383788.5	-	7	624	c.499C>A	c.(499-501)Cca>Aca	p.P167T	COLQ_ENST00000383786.5_Missense_Mutation_p.P133T|COLQ_ENST00000603808.1_Missense_Mutation_p.P167T|COLQ_ENST00000383785.2_Missense_Mutation_p.P167T|COLQ_ENST00000383787.2_Missense_Mutation_p.P158T|COLQ_ENST00000435459.2_Missense_Mutation_p.P157T|COLQ_ENST00000383781.4_Missense_Mutation_p.P157T	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	167	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CTTGACCCTGGCAAGCCCATC	0.498																																					p.P167T													.	.			0			c.C499A												67	47	54					3																	15516961		2203	4300	6503	SO:0001583	missense	8292	exon7			ACCCTGGCAAGCC	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen"	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.499C>A	3.37:g.15516961G>T	ENSP00000373298:p.Pro167Thr		103	0	0		48	0.06	3	NM_005677	0		0	B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	37	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724694	0.68959	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	D;D;D;D;D;D	0.98666	-5.06;-5.06;-4.22;-5.06;-5.06;-5.06	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	L	0.48218	1.51	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;0.997;0.999	D	0.99887	1.1125	10	0.87932	D	0	-4.8169	16.5134	0.84293	0.0:0.0:1.0:0.0	.	133;158;167;157	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	T	158;157;157;167;167;157;167;133;110	ENSP00000373297:P158T;ENSP00000373291:P157T;ENSP00000402511:P157T;ENSP00000373295:P167T;ENSP00000373298:P167T;ENSP00000373296:P133T	ENSP00000373291:P157T	P	-	1	0	COLQ	15491965	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.742000	0.85008	2.622000	0.88805	0.561000	0.74099	CCA			0.498	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000343575.1		NM_005677		T	15516961	G	T	15516961	3	4	82	1	0	0	0	0	1	0	0	0	3715	1203	42	2	912	2	COLQ	3	15516961	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		15516961	182505469	12	5792											
DYNC1LI1	51143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	32578558	32578558	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcaaaatgttcatctctGtagtcatgttctttctccaa	12	16	4	9	0	6	0	3	0	3	0	8	0	6	0	1	0	0	3	1	0	5	4			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr3:32578558G>C	ENST00000273130.4	-	6	880	c.777C>G	c.(775-777)taC>taG	p.Y259*	DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.Y143*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	259					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GTTCATCTCTGTAGTCATGTT	0.254																																					p.Y259X													.	.			0			c.C777G												95	89	91					3																	32578558		2202	4290	6492	SO:0001587	stop_gained	51143	exon6			ATCTCTGTAGTCA	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.777C>G	3.37:g.32578558G>C	ENSP00000273130:p.Tyr259*		300	0	0		249	0.22	54	NM_016141	103	0.03	3	A2RRG7|Q53HC8|Q53HK7	Nonsense_Mutation	SNP	ENST00000273130.4	37	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	G	37	6.541413	0.97650	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	.	.	.	5.66	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7288	10.4968	0.44783	0.2557:0.0:0.7443:0.0	.	.	.	.	X	259;143	.	ENSP00000273130:Y259X	Y	-	3	2	DYNC1LI1	32553562	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.484000	0.53201	0.053000	0.16036	0.467000	0.42956	TAC			0.254	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253250.1		NM_016141		C	32578558	G	C	32578558	4	2	82	1	0	0	0	0	0	1	0	0	4849	1372	48	5	826	5	DYNC1LI1	3	32578558	Nonsense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	17061597	32578558	165443872	13	5793											
DLEC1	9940	mdanderson.org	37	chr3	38103775	38103775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaagcttgctgagttCgaagatgagttagaccacac	14	8	12	7	1	0	5	0	2	0	3	1	7	0	6	1	1	2	4	1	1	4	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr3:38103775C>A	ENST00000308059.6	+	4	810	c.789C>A	c.(787-789)ttC>ttA	p.F263L	DLEC1_ENST00000346219.3_Missense_Mutation_p.F263L|DLEC1_ENST00000452631.2_Missense_Mutation_p.F263L					deleted in lung and esophageal cancer 1									p.F263F(2)		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)		TTGCTGAGTTCGAAGATGAGT	0.453																																					p.F263L													DLEC1_ENST00000346219,NS,carcinoma,0,6	DLEC1_ENST00000346219	0	6	2	Substitution - coding silent(2)	large_intestine(2)	c.C789A												88	82	84					3																	38103775		1977	4171	6148	SO:0001583	missense	9940	exon4			TGAGTTCGAAGAT	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.789C>A	3.37:g.38103775C>A	ENSP00000308597:p.Phe263Leu		65	0	0		29	0.1	3	NM_007335	0		0		Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	2.360	-0.346917	0.05208	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04454	3.64;3.62;3.87	3.92	-1.29	0.09288	.	3.348110	0.00357	N	0.000026	T	0.02888	0.0086	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.40739	-0.9547	10	0.08599	T	0.76	3.0603	7.4842	0.27423	0.0:0.3129:0.0:0.6871	.	263;263;263	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	L	263	ENSP00000308597:F263L;ENSP00000315914:F263L;ENSP00000410427:F263L	ENSP00000308597:F263L	F	+	3	2	DLEC1	38078779	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.483000	0.06536	-0.189000	0.10482	-1.119000	0.02030	TTC			0.453	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000253745.3		NM_007337		A	38103775	C	A	38103775	3	1	82	1	0	0	0	0	1	0	0	0	4557	883	31	1	803	1	DLEC1	3	38103775	Missense_Mutation	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10	5525217	38103775	159918655	14	5794											
MUC13	56667	mdanderson.org	37	chr3	124646755	124646755	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggaaattagtttcagtGgtatcagctgcagctactgt	10	13	11	7	0	3	0	3	0	0	0	3	1	3	1	0	2	4	5	0	2	4	4			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr3:124646755G>T	ENST00000311075.3	-	2	173	c.135C>A	c.(133-135)acC>acA	p.T45T	MUC13_ENST00000497378.1_5'UTR	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	45	Thr-rich.				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						TAGTTTCAGTGGTATCAGCTG	0.473																																					p.T45T													.	.			0			c.C135A												200	184	189					3																	124646755		2203	4300	6503	SO:0001819	synonymous_variant	56667	exon2			TTCAGTGGTATCA	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.135C>A	3.37:g.124646755G>T			37	0	0		24	0.08	2	NM_033049	0		0	Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37																																																																																						0.473	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000355714.1		NM_033049		T	124646755	G	T	124646755	2	4	82	1	0	0	0	0	0	0	0	1	9987	1335	47	3		3	MUC13	3	124646755	Silent	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	86542980	124646755	73375675	15	5795											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599320	55599320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgattttggtctagccagaGacatcaagaatgattctaat	13	13	9	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	5	rs121913506		TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr4:55599320G>C	ENST00000288135.5	+	17	2543	c.2446G>C	c.(2446-2448)Gac>Cac	p.D816H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816H			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,0,932	KIT	0	932	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	c.G2446C												144	146	145					4																	55599320		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GCCAGAGACATCA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>C	4.37:g.55599320G>C	ENSP00000288135:p.Asp816His		74	0	0		55	0.71	39	NM_000222	242	1	241	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721319	0.68959	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83837	-1.77;-1.77	5.62	5.62	0.85841	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	0.000011	T	0.80732	0.4679	L	0.49699	1.58	0.80722	D	1	P;B	0.44734	0.842;0.353	B;B	0.38156	0.266;0.154	D	0.83488	0.0068	10	0.72032	D	0.01	.	19.6484	0.95791	0.0:0.0:1.0:0.0	rs28933969	812;816	P10721-2;P10721	.;KIT_HUMAN	H	816;812	ENSP00000288135:D816H;ENSP00000390987:D812H	ENSP00000288135:D816H	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				C	55599320	G	C	55599320	3	2	82	1	0	0	0	0	1	0	0	0	8344	942	33	5	2512	5	KIT	4	55599320	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		55599320	135554956	16	5796											
NPY1R	4886	mdanderson.org	37	chr4	164247178	164247178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatcagtcattacttGgtagatcaggaaaggcaaag	13	9	11	8	1	4	1	4	0	0	1	4	2	4	2	0	4	1	3	0	4	4	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr4:164247178G>T	ENST00000296533.2	-	2	1060	c.529C>A	c.(529-531)Caa>Aaa	p.Q177K	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	177					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)	p.Q177K(1)		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)				GTCATTACTTGGTAGATCAGG	0.433																																					p.Q177K													NPY1R,colon,carcinoma,+2,2	NPY1R	2	2	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C529A												120	111	114					4																	164247178		2203	4300	6503	SO:0001583	missense	4886	exon2			TTACTTGGTAGAT		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.529C>A	4.37:g.164247178G>T	ENSP00000354652:p.Gln177Lys		148	0	0		92	0.05	5	NM_000909	3	0	0	B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623761	0.28889	.	.	ENSG00000164128	ENST00000296533	T	0.71934	-0.61	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.377447	0.28388	N	0.015533	T	0.64907	0.2641	L	0.48218	1.51	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.60576	-0.7236	10	0.29301	T	0.29	.	14.9312	0.70916	0.0:0.0:0.857:0.143	.	177	P25929	NPY1R_HUMAN	K	177	ENSP00000354652:Q177K	ENSP00000354652:Q177K	Q	-	1	0	NPY1R	164466628	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.844000	0.48246	2.771000	0.95319	0.655000	0.94253	CAA			0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364685.1				T	164247178	G	T	164247178	3	4	82	1	0	0	0	0	1	0	0	0	10625	1357	47	3	633	3	NPY1R	4	164247178	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	108647858	164247178	26907098	17	5797											
PCDHGB2	56103	mdanderson.org	37	chr5	140740430	140740430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgataaccctccagtgttcaGccaggacgtgtacagggtca	10	8	11	12	2	2	0	2	0	0	0	3	2	3	1	3	2	3	2	3	2	2	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr5:140740430G>T	ENST00000522605.1	+	1	728	c.728G>T	c.(727-729)aGc>aTc	p.S243I	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	243	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTGTTCAGCCAGGACGTG	0.577																																					p.S243I													.	.			0			c.G728T												81	82	81					5																	140740430		2028	4192	6220	SO:0001583	missense	56103	exon1			TGTTCAGCCAGGA	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.728G>T	5.37:g.140740430G>T	ENSP00000429018:p.Ser243Ile		99	0	0		49	0.06	3	NM_032096	3	0	0	Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	7.133	0.580265	0.13686	.	.	ENSG00000253910	ENST00000522605	T	0.20463	2.07	5.54	2.7	0.31948	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.33789	0.0875	M	0.87617	2.895	0.21579	N	0.999636	B;B	0.21147	0.052;0.047	B;B	0.28709	0.093;0.046	T	0.31081	-0.9956	9	0.56958	D	0.05	.	12.5794	0.56381	0.0:0.4496:0.4242:0.1262	.	243;243	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	I	243	ENSP00000429018:S243I	ENSP00000429018:S243I	S	+	2	0	PCDHGB2	140720614	0.000000	0.05858	1.000000	0.80357	0.208000	0.24298	-1.467000	0.02352	0.330000	0.23485	0.655000	0.94253	AGC			0.577	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374741.1		NM_018923		T	140740430	G	T	140740430	3	4	82	1	0	0	0	0	1	0	0	0	11580	971	34	2	730	2	PCDHGB2	5	140740430	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		140740430	40174830	18	5798											
GLRA1	2741	mdanderson.org	37	chr5	151239421	151239421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgatctcatggaagtggGcccccttctcgttggcaaag	7	11	13	10	1	2	1	1	1	2	0	4	2	2	2	2	4	0	2	2	4	2	2			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr5:151239421G>A	ENST00000455880.2	-	4	687	c.401C>T	c.(400-402)gCc>gTc	p.A134V	GLRA1_ENST00000274576.4_Missense_Mutation_p.A134V|GLRA1_ENST00000545569.1_Missense_Mutation_p.A51V|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	134					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGGAAGTGGGCCCCCTTCTC	0.522																																					p.A134V													.	.			0			c.C401T												184	164	171					5																	151239421		2203	4300	6503	SO:0001583	missense	2741	exon4			AAGTGGGCCCCCT		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.401C>T	5.37:g.151239421G>A	ENSP00000411593:p.Ala134Val		122	0	0		75	0.05	4	NM_000171	0		0	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	36	5.773277	0.96922	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	T;T;T	0.79940	-1.32;-1.32;-1.32	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel ligand-binding (3);	0.103704	0.64402	D	0.000003	D	0.88837	0.6545	M	0.73753	2.245	0.80722	D	1	P;D;P	0.55385	0.948;0.971;0.936	P;P;P	0.60068	0.868;0.868;0.792	D	0.89330	0.3646	10	0.72032	D	0.01	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	134;51;134	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	V	134;134;51	ENSP00000274576:A134V;ENSP00000411593:A134V;ENSP00000445913:A51V	ENSP00000274576:A134V	A	-	2	0	GLRA1	151219614	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.606000	0.98325	2.746000	0.94184	0.655000	0.94253	GCC			0.522	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000373959.1				A	151239421	G	A	151239421	3	1	82	1	0	0	0	0	1	0	0	0	6468	1203	42	2	996	2	GLRA1	5	151239421	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	10498991	151239421	29675839	19	5799											
ADAMTS2	9509	mdanderson.org	37	chr5	178581103	178581103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggaccagtggaagcggtgGaaggcggcctgcaccagggg	8	3	20	10	3	0	0	0	0	0	0	0	3	0	3	3	8	2	1	3	8	2	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr5:178581103G>T	ENST00000251582.7	-	8	1430	c.1329C>A	c.(1327-1329)ttC>ttA	p.F443L	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.F443L	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	443	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)		GGAAGCGGTGGAAGGCGGCCT	0.711																																					p.F443L													.	.			0			c.C1329A												20	20	20					5																	178581103		2200	4297	6497	SO:0001583	missense	9509	exon8			GCGGTGGAAGGCG	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.1329C>A	5.37:g.178581103G>T	ENSP00000251582:p.Phe443Leu		29	0	0		23	0.13	3	NM_014244	5	0	0		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764288	0.89932	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86097	-2.07;-2.07	4.54	4.54	0.55810	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000026	D	0.85124	0.5625	L	0.39566	1.225	0.58432	D	0.999995	P;P	0.52170	0.792;0.951	B;P	0.56216	0.415;0.794	D	0.84932	0.0860	10	0.49607	T	0.09	.	10.3325	0.43831	0.0908:0.0:0.9092:0.0	.	443;443	O95450-2;O95450	.;ATS2_HUMAN	L	443	ENSP00000251582:F443L;ENSP00000274609:F443L	ENSP00000251582:F443L	F	-	3	2	ADAMTS2	178513709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.309000	0.51903	2.226000	0.72624	0.655000	0.94253	TTC			0.711	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253507.1		NM_014244		T	178581103	G	T	178581103	3	4	82	1	0	0	0	0	1	0	0	0	265	1165	41	3	2441	3	ADAMTS2	5	178581103	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	27341682	178581103	2334157	20	5800											
LRRC61	65999	mdanderson.org	37	chr7	150034292	150034292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactggccaccccgggccaGctgcagtgtctggctgggct	4	8	14	15	1	1	0	0	0	1	0	1	0	1	0	4	4	3	4	4	4	1	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr7:150034292G>T	ENST00000359623.4	+	3	930	c.342G>T	c.(340-342)caG>caT	p.Q114H	LRRC61_ENST00000493307.1_Missense_Mutation_p.Q114H|LRRC61_ENST00000323078.7_Missense_Mutation_p.Q114H	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	114										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCCCGGGCCAGCTGCAGTGTC	0.647																																					p.Q114H													.	.			0			c.G342T												27	29	28					7																	150034292		2203	4299	6502	SO:0001583	missense	65999	exon2			GGGCCAGCTGCAG	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.342G>T	7.37:g.150034292G>T	ENSP00000352642:p.Gln114His		28	0	0		20	0.15	3	NM_023942	28	0	0	B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	G	8.439	0.850353	0.17034	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.23950	1.88;1.88;1.88	4.66	3.55	0.40652	.	0.206668	0.41294	D	0.000910	T	0.29783	0.0744	L	0.33668	1.02	0.38133	D	0.938212	D	0.61080	0.989	P	0.56042	0.79	T	0.06356	-1.0831	10	0.39692	T	0.17	-27.1609	11.0117	0.47667	0.1113:0.0:0.8887:0.0	.	114	Q9BV99	LRC61_HUMAN	H	114	ENSP00000339047:Q114H;ENSP00000352642:Q114H;ENSP00000420560:Q114H	ENSP00000339047:Q114H	Q	+	3	2	LRRC61	149665225	0.999000	0.42202	1.000000	0.80357	0.311000	0.27955	1.254000	0.32897	2.151000	0.67156	0.485000	0.47835	CAG			0.647	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350696.1		NM_023942		T	150034292	G	T	150034292	3	4	82	1	0	0	0	0	1	0	0	0	9033	962	34	2	344	2	LRRC61	7	150034292	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		150034292	9104371	21	5801											
FBXO16	157574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	28304723	28304723	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttagcctagttctgtcctGcaatttatttttcttatcat	7	21	4	9	0	4	0	1	0	3	0	5	0	5	0	2	0	2	2	2	0	5	8			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr8:28304723G>A	ENST00000380254.2	-	7	956	c.808C>T	c.(808-810)Cag>Tag	p.Q270*	FBXO16_ENST00000518734.1_Nonsense_Mutation_p.Q258*|RP11-181B11.2_ENST00000523935.1_RNA|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000346498.2_Nonsense_Mutation_p.Q258*	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	270										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GTTCTGTCCTGCAATTTATTT	0.343																																					p.Q270X													.	.			0			c.C808T												230	219	223					8																	28304723		2203	4300	6503	SO:0001587	stop_gained	157574	exon7			TGTCCTGCAATTT	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.808C>T	8.37:g.28304723G>A	ENSP00000369604:p.Gln270*		59	0	0		60	0.2	12	NM_172366	13	0.23	3	Q3T1B2|Q3T1B3|Q3T1B4	Nonsense_Mutation	SNP	ENST00000380254.2	37	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044399	0.93685	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	.	.	.	4.87	1.75	0.24633	.	0.740232	0.11785	U	0.529759	.	.	.	.	.	.	0.34002	D	0.650448	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.9162	7.8205	0.29284	0.0:0.3386:0.4871:0.1743	.	.	.	.	X	270;258;258	.	ENSP00000341416:Q258X	Q	-	1	0	FBXO16	28360642	0.046000	0.20272	0.595000	0.28798	0.958000	0.62258	1.208000	0.32345	0.531000	0.28639	0.591000	0.81541	CAG			0.343	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000219988.2		NM_172366		A	28304723	G	A	28304723	4	1	82	1	0	0	0	0	0	1	0	0	5742	1328	46	2	82	2	FBXO16	8	28304723	Nonsense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		28304723	118059299	22	5802											
ZBTB10	65986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	81426189	81426189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagatggtgataggaatGtgaatgcaaatttattggct	12	12	13	4	0	0	3	0	2	0	1	0	4	0	4	1	4	1	2	1	4	5	4			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr8:81426189G>A	ENST00000430430.1	+	4	2685	c.1906G>A	c.(1906-1908)Gtg>Atg	p.V636M	ZBTB10_ENST00000426744.2_Missense_Mutation_p.V636M|ZBTB10_ENST00000455036.3_Missense_Mutation_p.V636M|ZBTB10_ENST00000379091.4_Missense_Mutation_p.V344M	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGATAGGAATGTGAATGCAAA	0.413																																					p.V636M													.	.			0			c.G1906A												130	126	127					8																	81426189		1962	4151	6113	SO:0001583	missense	65986	exon3			AGGAATGTGAATG	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1906G>A	8.37:g.81426189G>A	ENSP00000387462:p.Val636Met		100	0	0		92	0.18	17	NM_023929	48	0.42	20	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708119	0.30322	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.10192	2.9;2.97;2.97;2.97	5.04	0.0219	0.14131	.	1.078730	0.07133	N	0.845957	T	0.03959	0.0111	N	0.02539	-0.55	0.20703	N	0.999863	B;B;B;B	0.14438	0.01;0.007;0.0;0.003	B;B;B;B	0.12837	0.004;0.004;0.002;0.008	T	0.40905	-0.9538	10	0.38643	T	0.18	.	3.4941	0.07649	0.4667:0.206:0.3273:0.0	.	490;636;636;344	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	M	344;636;636;636;462	ENSP00000368384:V344M;ENSP00000387462:V636M;ENSP00000412036:V636M;ENSP00000416134:V636M	ENSP00000368384:V344M	V	+	1	0	ZBTB10	81588744	0.948000	0.32251	0.992000	0.48379	0.990000	0.78478	0.165000	0.16564	0.386000	0.24997	0.561000	0.74099	GTG			0.413	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000338055.2		NM_023929		A	81426189	G	A	81426189	3	1	82	1	0	0	0	0	1	0	0	0	17546	1377	48	3	1916	3	ZBTB10	8	81426189	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	53121466	81426189	64937833	23	5803											
NDRG1	10397	mdanderson.org	37	chr8	134274318	134274318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaggctgcgccgtcctGctggccaggggcgtccacgt	5	6	17	13	4	0	0	0	0	0	0	2	2	2	1	4	5	2	2	4	5	1	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr8:134274318G>T	ENST00000414097.2	-	5	1165	c.298C>A	c.(298-300)Cag>Aag	p.Q100K	NDRG1_ENST00000522476.1_Missense_Mutation_p.Q34K|NDRG1_ENST00000323851.7_Missense_Mutation_p.Q100K|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000537882.1_Missense_Mutation_p.Q19K|NDRG1_ENST00000354944.5_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	100					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|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)			GCGCCGTCCTGCTGGCCAGGG	0.607			T	ERG	prostate																																p.Q100K				Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	.	.			0			c.C298A												75	69	71					8																	134274318		2203	4300	6503	SO:0001583	missense	10397	exon5			CGTCCTGCTGGCC	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.298C>A	8.37:g.134274318G>T	ENSP00000404854:p.Gln100Lys		81	0	0		31	0.1	3	NM_001135242	33	0	0	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106989	0.94292	.	.	ENSG00000104419	ENST00000323851;ENST00000414097;ENST00000537882;ENST00000522476;ENST00000520230;ENST00000518480;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738;ENST00000523892	T;T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.09	5.09	0.68999	.	0.102551	0.64402	D	0.000001	T	0.43523	0.1251	M	0.82517	2.595	0.80722	D	1	P	0.40332	0.713	B	0.40444	0.329	T	0.54655	-0.8261	10	0.87932	D	0	-24.0231	17.0654	0.86557	0.0:0.0:1.0:0.0	.	100	Q92597	NDRG1_HUMAN	K	100;100;19;34;117;34;100;100;100;111;100;154;34	ENSP00000319977:Q100K;ENSP00000404854:Q100K;ENSP00000437443:Q19K;ENSP00000427894:Q34K;ENSP00000428345:Q117K;ENSP00000428802:Q34K;ENSP00000429994:Q100K;ENSP00000429272:Q100K;ENSP00000428384:Q100K;ENSP00000429840:Q111K;ENSP00000429524:Q100K;ENSP00000428991:Q154K;ENSP00000430171:Q34K	ENSP00000319977:Q100K	Q	-	1	0	NDRG1	134343500	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.468000	0.97676	2.359000	0.80004	0.561000	0.74099	CAG			0.607	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378805.1				T	134274318	G	T	134274318	3	4	82	1	0	0	0	0	1	0	0	0	10268	1328	46	2	934	2	NDRG1	8	134274318	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	52848129	134274318	12089704	24	5804											
RUSC2	9853	mdanderson.org	37	chr9	35548378	35548378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtccaccctggtccacccaGgtctgtcagggaccccactc	7	7	9	18	0	2	0	1	0	1	0	5	1	4	1	6	3	0	0	6	3	0	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr9:35548378G>T	ENST00000455600.1	+	2	2429	c.1860G>T	c.(1858-1860)caG>caT	p.Q620H		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	620						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCCACCCAGGTCTGTCAGG	0.637																																					p.Q620H													.	.			0			c.G1860T												54	48	50					9																	35548378		2203	4300	6503	SO:0001583	missense	9853	exon2			CACCCAGGTCTGT	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1860G>T	9.37:g.35548378G>T	ENSP00000393922:p.Gln620His		40	0	0		34	0.09	3	NM_014806	41	0	0	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.319002	0.23994	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.23754	1.89;1.89	5.33	2.5	0.30297	.	0.910295	0.09536	N	0.788886	T	0.16471	0.0396	N	0.14661	0.345	0.23972	N	0.996307	P	0.49447	0.924	B	0.43155	0.41	T	0.11966	-1.0566	10	0.46703	T	0.11	-8.3386	7.3722	0.26808	0.1444:0.0:0.719:0.1366	.	620	Q8N2Y8	RUSC2_HUMAN	H	620	ENSP00000355177:Q620H;ENSP00000393922:Q620H	ENSP00000355177:Q620H	Q	+	3	2	RUSC2	35538378	0.994000	0.37717	0.658000	0.29665	0.281000	0.26958	0.959000	0.29240	0.383000	0.24910	0.655000	0.94253	CAG			0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052309.1		XM_048462		T	35548378	G	T	35548378	3	4	82	1	0	0	0	0	1	0	0	0	13774	991	35	3	1862	3	RUSC2	9	35548378	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		35548378	105665053	25	5805											
TJP2	9414	mdanderson.org	37	chr9	71840238	71840238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagtatggtctccggcttgGgagtcagatcttcgtaaagg	9	11	14	7	2	3	2	1	0	2	2	5	3	3	3	1	4	0	3	1	4	3	4			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr9:71840238G>T	ENST00000377245.4	+	6	1179	c.971G>T	c.(970-972)gGg>gTg	p.G324V	TJP2_ENST00000453658.2_Missense_Mutation_p.G301V|TJP2_ENST00000539225.1_Missense_Mutation_p.G355V|TJP2_ENST00000265384.7_Missense_Mutation_p.G324V|TJP2_ENST00000348208.4_Missense_Mutation_p.G324V|TJP2_ENST00000535702.1_Missense_Mutation_p.G328V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	324	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTCCGGCTTGGGAGTCAGATC	0.413																																					p.G355V													.	.			0			c.G1064T												72	63	66					9																	71840238		2203	4300	6503	SO:0001583	missense	9414	exon6			GGCTTGGGAGTCA	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.971G>T	9.37:g.71840238G>T	ENSP00000366453:p.Gly324Val		45	0	0		46	0.07	3	NM_001170416	24	0	0	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288696	0.59976	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.68	4.77	0.60923	PDZ/DHR/GLGF (4);	0.048340	0.85682	D	0.000000	T	0.58694	0.2140	L	0.60904	1.88	0.80722	D	1	P;B;D;B;P	0.64830	0.701;0.392;0.994;0.254;0.569	B;B;P;B;B	0.60886	0.356;0.422;0.88;0.309;0.356	T	0.63800	-0.6555	10	0.87932	D	0	.	16.7015	0.85350	0.0:0.1297:0.8703:0.0	.	355;328;324;324;324	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	V	301;324;324;324;328;355	ENSP00000392178:G301V;ENSP00000366453:G324V;ENSP00000345893:G324V;ENSP00000265384:G324V;ENSP00000442090:G328V;ENSP00000438262:G355V	ENSP00000265384:G324V	G	+	2	0	TJP2	71030058	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.869000	0.87170	1.380000	0.46344	0.561000	0.74099	GGG			0.413	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000052572.2		NM_201629		T	71840238	G	T	71840238	3	4	82	1	0	0	0	0	1	0	0	0	15953	1232	43	3	1150	3	TJP2	9	71840238	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	36291860	71840238	69373193	26	5806											
NCOA4	8031	mdanderson.org	37	chr10	51585077	51585077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaggattggcttgtccaGaaccatcaggacccatgtaa	13	8	10	10	0	1	2	1	0	0	2	2	4	2	4	3	3	1	2	3	3	2	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr10:51585077G>T	ENST00000443446.1	+	8	1405	c.1176G>T	c.(1174-1176)caG>caT	p.Q392H	NCOA4_ENST00000430396.2_Missense_Mutation_p.Q292H|NCOA4_ENST00000374087.4_Missense_Mutation_p.Q392H|NCOA4_ENST00000414907.2_Missense_Mutation_p.Q226H|NCOA4_ENST00000344348.6_Missense_Mutation_p.Q392H|NCOA4_ENST00000438493.1_Missense_Mutation_p.Q408H|NCOA4_ENST00000452682.1_Missense_Mutation_p.Q408H|NCOA4_ENST00000374082.1_Missense_Mutation_p.Q392H	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	392					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GGCTTGTCCAGAACCATCAGG	0.507			T	RET	papillary thyroid																																p.Q408H				Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	.	.			0			c.G1224T												46	45	45					10																	51585077		2203	4300	6503	SO:0001583	missense	8031	exon9			TGTCCAGAACCAT	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1176G>T	10.37:g.51585077G>T	ENSP00000390713:p.Gln392His		50	0	0		33	0.09	3	NM_001145260	151	0.01	1	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584394	0.65992	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	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	5.6	5.6	0.85130	.	0.093712	0.47455	D	0.000225	T	0.65080	0.2657	M	0.74258	2.255	0.38245	D	0.941444	D;D;D;D	0.65815	0.981;0.964;0.966;0.995	P;P;P;P	0.57371	0.819;0.754;0.751;0.819	T	0.68372	-0.5426	9	.	.	.	-10.4158	17.7885	0.88546	0.0:0.0:1.0:0.0	.	292;408;408;392	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	H	408;408;292;392;226;392;392;392	ENSP00000405146:Q408H;ENSP00000395465:Q408H;ENSP00000393053:Q292H;ENSP00000363200:Q392H;ENSP00000411018:Q226H;ENSP00000344552:Q392H;ENSP00000363195:Q392H;ENSP00000390713:Q392H	.	Q	+	3	2	NCOA4	51255083	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	4.052000	0.57420	2.647000	0.89833	0.650000	0.86243	CAG			0.507	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048052.1		NM_005437		T	51585077	G	T	51585077	3	4	82	1	0	0	0	0	1	0	0	0	10248	933	33	3	1254	3	NCOA4	10	51585077	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		51585077	83949670	27	5807											
ALDH18A1	5832	mdanderson.org	37	chr10	97397134	97397134	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagcgttgtttgccaaaGgctacggctccactggtcac	8	9	11	13	3	1	0	1	0	0	0	2	0	2	0	2	3	3	5	2	3	3	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr10:97397134G>T	ENST00000371224.2	-	4	500	c.363C>A	c.(361-363)gcC>gcA	p.A121A	ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Silent_p.A121A	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	121	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		GTTTGCCAAAGGCTACGGCTC	0.552																																					p.A121A													.	.			0			c.C363A												129	107	115					10																	97397134		2203	4300	6503	SO:0001819	synonymous_variant	5832	exon4			GCCAAAGGCTACG	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.363C>A	10.37:g.97397134G>T			61	0	0		44	0.07	3	NM_001017423	34	0	0	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	CCDS7443.1																																																																																					0.552	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049552.1		NM_002860		T	97397134	G	T	97397134	2	4	82	1	0	0	0	0	0	0	0	1	489	987	35	3		3	ALDH18A1	10	97397134	Silent	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	45812057	97397134	38137613	28	5808											
PI4K2A	55361	mdanderson.org	37	chr10	99400600	99400600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttccgcaggtgcccggggGcgcggtccgagtggcggcgg	2	6	20	13	7	0	0	0	0	0	0	2	1	2	0	3	7	1	1	3	7	0	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr10:99400600G>T	ENST00000370631.3	+	1	158	c.101G>T	c.(100-102)gGc>gTc	p.G34V	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	34					basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GTGCCCGGGGGCGCGGTCCGA	0.771																																					p.G34V													.	.			0			c.G101T												4	5	5					10																	99400600		1956	3974	5930	SO:0001583	missense	55361	exon1			CCGGGGGCGCGGT	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.101G>T	10.37:g.99400600G>T	ENSP00000359665:p.Gly34Val		46	0	0		34	0.09	3	NM_018425	12	0	0	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256768	0.22965	.	.	ENSG00000155252	ENST00000370631	.	.	.	3.59	2.62	0.31277	.	0.267337	0.37095	N	0.002244	T	0.25082	0.0609	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07424	-1.0773	9	0.36615	T	0.2	-11.0786	6.0465	0.19762	0.0:0.3365:0.5023:0.1612	.	34	Q9BTU6	P4K2A_HUMAN	V	34	.	ENSP00000359665:G34V	G	+	2	0	PI4K2A	99390590	0.998000	0.40836	1.000000	0.80357	0.444000	0.32077	1.071000	0.30666	1.838000	0.53458	0.407000	0.27541	GGC			0.771	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049735.1		NM_018425		T	99400600	G	T	99400600	3	4	82	1	0	0	0	0	1	0	0	0	11888	1203	42	2	103	2	PI4K2A	10	99400600	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	2003466	99400600	36134147	29	5809											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629385	1629385	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagcctccacaggagccAcagccccccttgcagccccc	7	5	9	20	0	0	0	0	0	0	0	1	2	1	2	8	2	5	1	8	2	0	2			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr11:1629385A>G	ENST00000399685.1	-	1	308	c.231T>C	c.(229-231)tgT>tgC	p.C77C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	77	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CACAGGAGCCACAGCCCCCCT	0.677																																					p.C77C													.	KRTAP5-3	33		0			c.T231C												41	60	54					11																	1629385		2183	4283	6466	SO:0001819	synonymous_variant	387266	exon1			GGAGCCACAGCCC	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.231T>C	11.37:g.1629385A>G			132	0.0151515152	2		102	0.08	8	NM_001012708	0		0	Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	CCDS41591.1																																																																																					0.677	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127924.1				G	1629385	A	G	1629385	2	3	82	1	0	0	0	0	0	0	0	1	8577	157	6	4		4	KRTAP5-3	11	1629385	Silent	SNP	A	TCGA-4K-AA1G-01A-11D-A435-10		1629385	133377131	30	5810											
FAM160A2	84067	mdanderson.org	37	chr11	6239143	6239143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtccacaccacgacgtGcctcacgcagatactccagg	10	5	10	16	4	1	1	1	0	0	1	3	2	3	1	4	2	3	1	4	2	1	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr11:6239143G>T	ENST00000449352.2	-	9	1936	c.1673C>A	c.(1672-1674)gCa>gAa	p.A558E	FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Missense_Mutation_p.A572E|FAM160A2_ENST00000524416.1_Missense_Mutation_p.A558E			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	558					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCACGACGTGCCTCACGCAG	0.657																																					p.A572E													.	.			0			c.C1715A												67	62	64					11																	6239143		2201	4296	6497	SO:0001583	missense	84067	exon9			CGACGTGCCTCAC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1673C>A	11.37:g.6239143G>T	ENSP00000416918:p.Ala558Glu		24	0	0		20	0.1	2	NM_032127	21	0	0	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196322	0.78902	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.39229	1.77;1.7;1.09	4.97	4.97	0.65823	.	0.052276	0.85682	D	0.000000	T	0.66297	0.2775	M	0.80332	2.49	0.49798	D	0.999823	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71184	0.972;0.941;0.964	T	0.69844	-0.5035	10	0.56958	D	0.05	-33.5936	16.9638	0.86280	0.0:0.0:1.0:0.0	.	558;558;572	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	E	558;483;572;558	ENSP00000416918:A558E;ENSP00000265978:A572E;ENSP00000431773:A558E	ENSP00000265978:A572E	A	-	2	0	FAM160A2	6195719	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.747000	0.91610	2.590000	0.87494	0.561000	0.74099	GCA			0.657	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000383759.1		NM_032127		T	6239143	G	T	6239143	3	4	82	1	0	0	0	0	1	0	0	0	5479	1319	46	2	1261	2	FAM160A2	11	6239143	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	4609758	6239143	128767373	31	5811											
PIK3C2A	5286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	17121444	17121444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttctgcgtctgtagtttGgggttgaagtgcatctctaa	7	15	12	7	1	3	1	0	1	3	0	4	1	3	1	0	2	3	5	0	2	3	5			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr11:17121444G>C	ENST00000265970.7	-	25	4080	c.4081C>G	c.(4081-4083)Caa>Gaa	p.Q1361E	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q981E|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1361	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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						TCTGTAGTTTGGGGTTGAAGT	0.328																																					p.Q1361E													.	.			0			c.C4081G												128	130	129					11																	17121444		2200	4293	6493	SO:0001583	missense	5286	exon25			TAGTTTGGGGTTG	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.4081C>G	11.37:g.17121444G>C	ENSP00000265970:p.Gln1361Glu		104	0	0		70	0.3	21	NM_002645	40	0.58	23	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073177	0.36566	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.80214	-1.35;-1.35	5.43	5.43	0.79202	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.097905	0.64402	D	0.000001	T	0.62563	0.2438	N	0.02697	-0.525	0.54753	D	0.999988	P	0.44006	0.824	B	0.39465	0.3	T	0.66228	-0.5976	10	0.22706	T	0.39	-4.4652	19.6092	0.95599	0.0:0.0:1.0:0.0	.	1361	O00443	P3C2A_HUMAN	E	1361;981	ENSP00000265970:Q1361E;ENSP00000438687:Q981E	ENSP00000265970:Q1361E	Q	-	1	0	PIK3C2A	17078020	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.816000	0.86201	2.711000	0.92665	0.655000	0.94253	CAA			0.328	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387553.1		NM_002645		C	17121444	G	C	17121444	3	2	82	1	0	0	0	0	1	0	0	0	11926	1357	47	5	1011	5	PIK3C2A	11	17121444	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	10882301	17121444	117885072	32	5812											
SIAE	54414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	124517336	124517336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggtttcacgccagtcttcGatgagtgcagggaatgtgca	10	10	13	8	2	2	1	1	1	1	0	3	3	2	2	1	2	2	3	1	2	2	2			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr11:124517336G>A	ENST00000263593.3	-	7	1063	c.891C>T	c.(889-891)atC>atT	p.I297I	SIAE_ENST00000545756.1_Silent_p.I262I			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	297					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)		GCCAGTCTTCGATGAGTGCAG	0.473																																					p.I297I													.	.			0			c.C891T												161	138	146					11																	124517336		2201	4299	6500	SO:0001819	synonymous_variant	54414	exon7			GTCTTCGATGAGT	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.891C>T	11.37:g.124517336G>A			64	0	0		39	0.44	17	NM_170601	38	0.95	36	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	37	CCDS8449.1																																																																																					0.473	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387070.1		NM_170601		A	124517336	G	A	124517336	2	1	82	1	0	0	0	0	0	0	0	1	14321	1048	37	1		1	SIAE	11	124517336	Silent	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	107395892	124517336	10489180	33	5813											
PRDM10	56980	mdanderson.org	37	chr11	129772250	129772250	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgcttccgttcccgttGgtggtggtggtgatgatgta	3	15	15	8	3	0	2	0	2	0	0	3	2	2	2	2	4	1	5	2	4	1	4			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr11:129772250G>T	ENST00000360871.3	-	21	3660	c.3429C>A	c.(3427-3429)acC>acA	p.T1143T	PRDM10_ENST00000526082.1_Silent_p.T1061T|PRDM10_ENST00000358825.5_Silent_p.T1147T|PRDM10_ENST00000528746.1_Silent_p.T1104T|PRDM10_ENST00000423662.2_Silent_p.T1048T|PRDM10_ENST00000304538.6_Silent_p.T1010T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1134					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)		CGTTCCCGTTGGTGGTGGTGG	0.552																																					p.T1147T													.	.			0			c.C3441A												334	289	304					11																	129772250		2201	4297	6498	SO:0001819	synonymous_variant	56980	exon22			CCCGTTGGTGGTG	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.3429C>A	11.37:g.129772250G>T			88	0	0		35	0.09	3	NM_020228	9	0	0	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																					0.552	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386076.1		NM_199437		T	129772250	G	T	129772250	2	4	82	1	0	0	0	0	0	0	0	1	12471	1335	47	3		3	PRDM10	11	129772250	Silent	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	5254914	129772250	5234266	34	5814											
KCNH3	23416	ucsc.edu	37	chr12	49937278	49937278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagcgtctgtgacctggCcgtggaggtcctcttcatcc	4	10	12	15	2	3	1	1	1	2	0	5	2	5	2	5	3	1	0	5	3	0	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr12:49937278C>A	ENST00000257981.6	+	5	1060	c.800C>A	c.(799-801)gCc>gAc	p.A267D	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	267					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGTGACCTGGCCGTGGAGGTC	0.667																																					p.A267D													.	KCNH3	88		0			c.C800A												46	43	44					12																	49937278		2203	4300	6503	SO:0001583	missense	23416	exon5			ACCTGGCCGTGGA	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.800C>A	12.37:g.49937278C>A	ENSP00000257981:p.Ala267Asp		14	0	0		13	0.31	4	NM_012284	20	0	0	Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443368	0.83993	.	.	ENSG00000135519	ENST00000257981	D	0.94497	-3.44	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.46758	D	0.000276	D	0.93785	0.8013	M	0.67700	2.07	0.33940	D	0.643154	B	0.25772	0.134	B	0.38755	0.281	D	0.94795	0.7965	10	0.72032	D	0.01	.	8.7519	0.34620	0.0:0.8987:0.0:0.1013	.	267	Q9ULD8	KCNH3_HUMAN	D	267	ENSP00000257981:A267D	ENSP00000257981:A267D	A	+	2	0	KCNH3	48223545	0.000000	0.05858	0.958000	0.39756	0.980000	0.70556	0.555000	0.23422	2.559000	0.86315	0.655000	0.94253	GCC			0.667	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404571.2		NM_012284		A	49937278	C	A	49937278	3	1	82	1	0	0	0	0	1	0	0	0	8048	739	26	2	818	2	KCNH3	12	49937278	Missense_Mutation	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10		49937278	83914617	35	5815											
SLC35E3	55508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	69140302	69140302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacatgagcctgaccctgGtgcacttcgtggtcacctgg	7	9	11	14	1	1	2	1	2	0	0	2	2	1	2	4	3	3	1	4	3	1	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr12:69140302G>C	ENST00000398004.2	+	1	417	c.145G>C	c.(145-147)Gtg>Ctg	p.V49L		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	49						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)			CCTGACCCTGGTGCACTTCGT	0.572																																					p.V49L													.	.			0			c.G145C												74	80	78					12																	69140302		2013	4171	6184	SO:0001583	missense	55508	exon1			ACCCTGGTGCACT	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	ENST00000398004.2:c.145G>C	12.37:g.69140302G>C	ENSP00000381089:p.Val49Leu		120	0	0		139	0.27	37	NM_018656	31	0.35	11	A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	ENST00000398004.2	37	CCDS41808.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150630	0.37923	.	.	ENSG00000175782	ENST00000398004	T	0.54279	0.58	5.17	5.17	0.71159	.	0.133787	0.50627	D	0.000113	T	0.36386	0.0965	N	0.16233	0.39	0.47547	D	0.999458	B	0.02656	0.0	B	0.04013	0.001	T	0.14364	-1.0475	9	.	.	.	-5.9609	15.4134	0.74945	0.0:0.1394:0.8606:0.0	.	49	Q7Z769	S35E3_HUMAN	L	49	ENSP00000381089:V49L	.	V	+	1	0	SLC35E3	67426569	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	3.408000	0.52651	2.569000	0.86673	0.591000	0.81541	GTG			0.572	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403241.1		NM_018656		C	69140302	G	C	69140302	3	2	82	1	0	0	0	0	1	0	0	0	14609	1261	44	5	147	5	SLC35E3	12	69140302	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	19203024	69140302	64711593	36	5816											
CAPS2	84698	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	75716837	75716837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgaatttggcaggtttgCtgtactaagtggaatatatg	12	14	12	3	0	0	2	0	1	0	1	0	3	0	3	0	3	2	4	0	3	6	6			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr12:75716837C>G	ENST00000409445.3	-	5	461	c.265G>C	c.(265-267)Gca>Cca	p.A89P	CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	89							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GGCAGGTTTGCTGTACTAAGT	0.279																																					p.A89P													.	CAPS2	96		0			c.G265C												38	35	36					12																	75716837		692	1585	2277	SO:0001583	missense	84698	exon5			GGTTTGCTGTACT	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.265G>C	12.37:g.75716837C>G	ENSP00000386959:p.Ala89Pro		332	0.0030120482	1		421	0.18	77	NM_032606	0		0	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	8.507	0.865607	0.17250	.	.	ENSG00000180881	ENST00000409445	T	0.55234	0.53	4.84	2.97	0.34412	.	0.739208	0.12552	N	0.458967	T	0.34308	0.0893	N	0.19112	0.55	0.09310	N	0.999997	B	0.33073	0.396	B	0.31614	0.133	T	0.14448	-1.0472	10	0.36615	T	0.2	-0.1012	8.1854	0.31335	0.0:0.7453:0.1639:0.0907	.	89	Q9BXY5	CAYP2_HUMAN	P	89	ENSP00000386959:A89P	ENSP00000386959:A89P	A	-	1	0	CAPS2	74003104	0.000000	0.05858	0.015000	0.15790	0.065000	0.16274	-0.352000	0.07701	1.370000	0.46153	0.561000	0.74099	GCA			0.279	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000327880.2				G	75716837	C	G	75716837	3	3	82	1	0	0	0	0	1	0	0	0	2640	797	28	5	1464	5	CAPS2	12	75716837	Missense_Mutation	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10	6576535	75716837	58135058	37	5817											
HVCN1	84329	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	111099034	111099034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaggggggccctgggtgCggggccaggggcaggggcaa	6	3	23	9	1	1	0	1	0	0	0	1	0	1	0	2	10	1	2	2	10	2	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr12:111099034C>T	ENST00000356742.5	-	3	994	c.241G>A	c.(241-243)Gca>Aca	p.A81T	HVCN1_ENST00000242607.8_Missense_Mutation_p.A81T|HVCN1_ENST00000439744.2_Missense_Mutation_p.A61T|HVCN1_ENST00000548312.1_Missense_Mutation_p.A81T			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	81					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GCCCTGGGTGCGGGGCCAGGG	0.647																																					p.A81T													.	HVCN1	38		0			c.G241A												42	49	47					12																	111099034		2203	4300	6503	SO:0001583	missense	84329	exon4			TGGGTGCGGGGCC	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.241G>A	12.37:g.111099034C>T	ENSP00000349181:p.Ala81Thr		226	0	0		215	0.04	8	NM_032369	111	0	0	A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	4.411	0.075996	0.08485	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.31	-7.03	0.01584	.	1.369320	0.04527	N	0.385774	T	0.14356	0.0347	N	0.03177	-0.4	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.04013	0.001;0.001	T	0.12066	-1.0562	10	0.15499	T	0.54	-2.1976	3.0508	0.06168	0.1078:0.1599:0.2297:0.5026	.	81;81	Q96D96;Q96D96-3	HVCN1_HUMAN;.	T	81;81;81;61	ENSP00000449601:A81T;ENSP00000242607:A81T;ENSP00000349181:A81T;ENSP00000412052:A61T	ENSP00000242607:A81T	A	-	1	0	HVCN1	109583417	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.849000	0.04322	-1.213000	0.02617	-1.138000	0.01928	GCA			0.647	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404653.1		NM_032369		T	111099034	C	T	111099034	3	4	82	1	0	0	0	0	1	0	0	0	7477	768	27	1	600	1	HVCN1	12	111099034	Missense_Mutation	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10	35382197	111099034	22752861	38	5818											
RBM23	55147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23374412	23374412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtaggcaatgcccttaGaacgacgtgagttccgatct	10	9	10	12	4	1	2	0	1	1	1	2	4	2	2	3	1	2	3	3	1	4	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr14:23374412G>T	ENST00000359890.3	-	8	812	c.617C>A	c.(616-618)tCt>tAt	p.S206Y	RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000542016.2_Missense_Mutation_p.S36Y|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_Missense_Mutation_p.S172Y|RBM23_ENST00000399922.2_Missense_Mutation_p.S190Y	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	206	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		AATGCCCTTAGAACGACGTGA	0.502																																					p.S206Y													.	.			0			c.C617A												75	70	72					14																	23374412		2036	4185	6221	SO:0001583	missense	55147	exon8			CCCTTAGAACGAC	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.617C>A	14.37:g.23374412G>T	ENSP00000352956:p.Ser206Tyr		109	0	0		95	0.18	17	NM_001077351	132	0.35	46	D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913747	0.92178	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016;ENST00000557403;ENST00000555722	T;T;T;T;T;T	0.79352	0.88;0.88;0.59;-1.26;2.94;-1.26	5.28	5.28	0.74379	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.189186	0.36703	N	0.002460	D	0.93151	0.7819	H	0.98980	4.39	0.58432	D	0.999999	D;D;D;D	0.65815	0.983;0.995;0.992;0.994	D;D;D;D	0.72982	0.964;0.96;0.971;0.979	D	0.95312	0.8413	10	0.62326	D	0.03	-15.8635	17.8393	0.88710	0.0:0.0:1.0:0.0	.	206;172;190;206	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	Y	206;183;190;172;36;36;36	ENSP00000352956:S206Y;ENSP00000382806:S190Y;ENSP00000339220:S172Y;ENSP00000438504:S36Y;ENSP00000452171:S36Y;ENSP00000450556:S36Y	ENSP00000305783:S206Y	S	-	2	0	RBM23	22444252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.839000	0.92120	2.745000	0.94114	0.655000	0.94253	TCT			0.502	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000413545.3				T	23374412	G	T	23374412	3	4	82	1	0	0	0	0	1	0	0	0	13146	942	33	3	730	3	RBM23	14	23374412	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		23374412	83975128	39	5819											
NRL	4901	mdanderson.org	37	chr14	24550449	24550449	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctctgaacggctcagAggaagaggtgggaggggtcc	9	6	19	7	1	2	3	1	1	1	2	3	5	3	5	1	7	2	2	1	7	2	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr14:24550449A>T	ENST00000561028.1	-	3	1029	c.710T>A	c.(709-711)cTc>cAc	p.L237H	NRL_ENST00000396995.1_Missense_Mutation_p.L98H|NRL_ENST00000396997.1_Missense_Mutation_p.L237H|NRL_ENST00000560550.1_Missense_Mutation_p.L98H|NRL_ENST00000397002.2_Missense_Mutation_p.L237H			P54845	NRL_HUMAN	neural retina leucine zipper	237					positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		AACGGCTCAGAGGAAGAGGTG	0.692																																					p.L237H													.	.			0			c.T710A												4	5	4					14																	24550449		2008	4011	6019	SO:0001583	missense	4901	exon3			GCTCAGAGGAAGA		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.710T>A	14.37:g.24550449A>T	ENSP00000454062:p.Leu237His		49	0	0		29	0.1	3	NM_006177	3	0	0	A8MX14|Q53XD0	Missense_Mutation	SNP	ENST00000561028.1	37	CCDS9608.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876879	0.51801	.	.	ENSG00000129535	ENST00000397002;ENST00000396997;ENST00000396995	D;D;D	0.97959	-4.63;-4.63;-1.86	4.58	4.58	0.56647	.	0.612905	0.13635	N	0.373379	D	0.93523	0.7933	L	0.29908	0.895	0.24927	N	0.991947	P	0.46327	0.876	B	0.36959	0.237	D	0.89250	0.3590	10	0.87932	D	0	.	7.3294	0.26573	0.8983:0.0:0.1017:0.0	.	237	P54845	NRL_HUMAN	H	237;237;98	ENSP00000380197:L237H;ENSP00000380193:L237H;ENSP00000380191:L98H	ENSP00000337023:L237H	L	-	2	0	NRL	23620289	0.988000	0.35896	1.000000	0.80357	0.024000	0.10985	0.353000	0.20130	2.016000	0.59253	0.334000	0.21626	CTC			0.692	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415595.1				T	24550449	A	T	24550449	3	4	82	1	0	0	0	0	1	0	0	0	10673	304	11	5	7	5	NRL	14	24550449	Missense_Mutation	SNP	A	TCGA-4K-AA1G-01A-11D-A435-10	1176037	24550449	82799091	40	5820											
KIAA0284	283638	mdanderson.org	37	chr14	105353263	105353263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgcttctacaggacctggCcgctacccgggccgcacgca	6	5	11	19	5	1	0	0	0	1	0	1	1	1	1	5	3	2	4	5	3	2	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr14:105353263C>T	ENST00000414716.3	+	12	2915	c.2687C>T	c.(2686-2688)gCc>gTc	p.A896V	CEP170B_ENST00000418279.1_Missense_Mutation_p.A826V|CEP170B_ENST00000453495.1_Missense_Mutation_p.A897V|CEP170B_ENST00000556508.1_Missense_Mutation_p.A826V	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	896						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CAGGACCTGGCCGCTACCCGG	0.672																																					p.A896V													.	.			0			c.C2687T												21	28	26					14																	105353263		1948	4126	6074	SO:0001583	missense	283638	exon12			ACCTGGCCGCTAC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2687C>T	14.37:g.105353263C>T	ENSP00000404151:p.Ala896Val		30	0	0		17	0.12	2	NM_001112726	12	0	0	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631855	0.29068	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.45668	0.9;0.89;0.91;0.9	4.48	3.49	0.39957	.	0.667552	0.14790	N	0.298294	T	0.35566	0.0936	L	0.54323	1.7	0.29136	N	0.879354	P;P;P	0.39282	0.666;0.666;0.617	B;B;B	0.39840	0.311;0.141;0.173	T	0.19582	-1.0301	10	0.30078	T	0.28	-13.2061	6.1698	0.20410	0.3657:0.5014:0.1329:0.0	.	896;896;826	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	V	826;896;897;826	ENSP00000451249:A826V;ENSP00000404151:A896V;ENSP00000407238:A897V;ENSP00000415006:A826V	ENSP00000404151:A896V	A	+	2	0	KIAA0284	104424308	0.409000	0.25368	0.884000	0.34674	0.144000	0.21451	1.056000	0.30480	2.032000	0.59987	0.491000	0.48974	GCC			0.672	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000410289.2		NM_001112726		T	105353263	C	T	105353263	3	4	82	1	0	0	0	0	1	0	0	0	8181	739	26	2	2729	2	KIAA0284	14	105353263	Missense_Mutation	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10	80802814	105353263	1996277	41	5821											
NR2E3	10002	mdanderson.org	37	chr15	72106456	72106456	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccccagccagcccgtGaggtgacctgagcatgcgcc	8	4	11	18	2	0	3	0	3	0	0	0	3	0	3	7	1	4	1	7	1	0	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr15:72106456G>T	ENST00000398840.2	+	0	1288							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						GCCAGCCCGTGAGGTGACCTG	0.612																																					p.V366V													NR2E3_ENST00000398840,NS,carcinoma,+2,3	NR2E3_ENST00000398840	2	3	0			c.G1098T												28	35	33					15																	72106456		2167	4260	6427			10002	exon8			GCCCGTGAGGTGA		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72106456G>T			23	0	0		27	0.11	3	NM_014249	0		0	B6ZGU0|Q9UHM4	Silent	SNP	ENST00000398840.2	37																																																																																						0.612	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript				NM_014249		T	72106456	G	T	72106456	1	4	82	0	1	0	0	0	0	0	0	0	10643	1277	45	3		3	NR2E3	15	72106456	RNA	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		72106456	30424936	42	5822											
SETD1A	9739	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30974776	30974776	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaacgaatgaaatactaTgaactaattgtcaatggctc	17	10	6	8	1	1	2	1	2	0	0	2	3	1	2	0	1	4	1	0	1	9	4			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr16:30974776T>C	ENST00000262519.8	+	5	1226	c.540T>C	c.(538-540)taT>taC	p.Y180Y		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	180					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						TGAAATACTATGAACTAATTG	0.512																																					p.Y180Y													.	.			0			c.T540C												190	180	183					16																	30974776		2197	4300	6497	SO:0001819	synonymous_variant	9739	exon5			ATACTATGAACTA	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.540T>C	16.37:g.30974776T>C			103	0	0		75	0.2	15	NM_014712	67	0.28	19	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																					0.512	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318244.2		NM_014712		C	30974776	T	C	30974776	2	2	82	1	0	0	0	0	0	0	0	1	14153	1471	51	4		4	SETD1A	16	30974776	Silent	SNP	T	TCGA-4K-AA1G-01A-11D-A435-10		30974776	59379977	43	5823											
ELMO3	1874	mdanderson.org	37	chr16	67235503	67235503	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggctctcatgctggggctGctggagccgcgcatgcggac	5	7	16	13	3	1	0	1	0	1	0	2	2	1	2	1	5	4	5	1	5	0	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr16:67235503G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_Silent_p.L179L|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000360833.1_Silent_p.L328L|ELMO3_ENST00000393997.2_Silent_p.L345L	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)		TGCTGGGGCTGCTGGAGCCGC	0.602																																					p.L345L													.	.			0			c.G1035A												55	60	58					16																	67235503		2115	4228	6343	SO:0001628	intergenic_variant	79767	exon10			GGGGCTGCTGGAG	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.67235503G>A			55	0	0		31	0.1	3	NM_024712	5	0	0	A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	37	CCDS32464.1																																																																																					0.602	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421565.1		NM_001950		A	67235503	G	A	67235503	1	1	82	0	1	0	0	0	0	0	0	0	5074	1306	46	2		2	ELMO3	16	67235503	IGR	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	36260727	67235503	23119250	44	5824											
CNTNAP4	85445	mdanderson.org	37	chr16	76496003	76496003	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcacctattattttggagGtaagaataggtgccaggctc	10	12	12	7	0	0	1	0	0	0	1	1	2	0	2	2	5	1	3	2	5	5	6			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr16:76496003G>T	ENST00000476707.1	+	8	1631		c.e8+1		CNTNAP4_ENST00000377504.4_Splice_Site|CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000469589.1_Splice_Site|CNTNAP4_ENST00000307431.8_Splice_Site			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4						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						TATTTTGGAGGTAAGAATAGG	0.473																																					.													.	.			0			c.1482+1G>T												34	34	34					16																	76496003		2197	4300	6497	SO:0001630	splice_region_variant	85445	exon9			TTGGAGGTAAGAA	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.1492+1G>T	16.37:g.76496003G>T			90	0	0		41	0.07	3	NM_033401	0		0	E9PFZ6|Q86YZ7	Splice_Site	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.064494	0.76187	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0696	0.89402	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP4	75053504	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.044000	0.89434	2.570000	0.86706	0.650000	0.86243	.			0.473	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000348216.1		NM_033401	Intron	T	76496003	G	T	76496003	5	4	82	1	0	0	0	0	0	0	1	0	3651	1275	44	3	1531	3	CNTNAP4	16	76496003	Splice_Site	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	9260500	76496003	13858750	45	5825											
RPL19	6143	hgsc.bcm.edu	37	chr17	37360424	37360424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaggcagacaaggccCgcaagaagctcctggcgtaa	13	4	13	11	2	0	3	0	1	0	2	1	3	1	3	2	3	2	5	2	3	5	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr17:37360424C>T	ENST00000225430.4	+	5	513	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	RPL19_ENST00000579260.1_Missense_Mutation_p.R149C|RPL19_ENST00000582193.1_Missense_Mutation_p.R149C|RPL19_ENST00000579374.1_Missense_Mutation_p.R148C	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	151					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)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						AGACAAGGCCCGCAAGAAGCT	0.453																																					p.R151C													RPL19,NS,carcinoma,-1,1	RPL19	-1	1	0			c.C451T												62	65	64					17																	37360424		1909	4127	6036	SO:0001583	missense	6143	exon5			AAGGCCCGCAAGA		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"L ribosomal proteins"	10312	protein-coding gene	gene with protein product	"60S ribosomal protein L19", "ribosomal protein L19, cytosolic, N-terminus truncated"	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.451C>T	17.37:g.37360424C>T	ENSP00000225430:p.Arg151Cys		42	0.0238095238	1		27	0.11	3	NM_000981	6239	0	7	B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	c	19.04	3.750092	0.69533	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.43	5.43	0.79202	.	0.056541	0.64402	N	0.000001	T	0.81597	0.4856	H	0.96208	3.785	0.80722	D	1	B	0.16166	0.016	B	0.08055	0.003	T	0.81957	-0.0695	9	0.62326	D	0.03	.	18.8481	0.92215	0.0:1.0:0.0:0.0	.	151	P84098	RL19_HUMAN	C	151	.	ENSP00000225430:R151C	R	+	1	0	RPL19	34613950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.627000	0.83176	2.551000	0.86045	0.563000	0.77884	CGC			0.453	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000444190.1		NM_000981		T	37360424	C	T	37360424	3	4	82	1	0	0	0	0	1	0	0	0	13589	652	23	1	469	1	RPL19	17	37360424	Missense_Mutation	SNP	C	TCGA-4K-AA1G-01A-11D-A435-10		37360424	43834786	46	5826											
SRP68	6730	mdanderson.org	37	chr17	74037023	74037023	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggagcacttctctgaccGcacttgagtgatgagctctt	8	11	11	11	1	2	4	0	4	2	0	3	5	2	5	1	1	2	3	1	1	0	3			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr17:74037023G>T	ENST00000307877.2	-	14	1722	c.1561C>A	c.(1561-1563)Cgg>Agg	p.R521R	SRP68_ENST00000539137.1_Silent_p.R483R|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Silent_p.R420R|SRP68_ENST00000602720.1_Silent_p.R182R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	521					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						TTCTCTGACCGCACTTGAGTG	0.577																																					p.R521R													SRP68,caecum,carcinoma,0,3	SRP68	0	3	0			c.C1561A												83	83	83					17																	74037023		2203	4300	6503	SO:0001819	synonymous_variant	6730	exon14			CTGACCGCACTTG	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.1561C>A	17.37:g.74037023G>T			42	0	0		52	0.06	3	NM_014230	164	0	0	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	CCDS11738.1																																																																																					0.577	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449487.1		NM_014230		T	74037023	G	T	74037023	2	4	82	1	0	0	0	0	0	0	0	1	15179	1086	38	1		1	SRP68	17	74037023	Silent	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	36676599	74037023	7158187	47	5827											
FLJ35220	284131	mdanderson.org	37	chr17	78395647	78395647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgtatgaggagagccGcatggtcagcctcacagccc	8	7	15	11	1	2	2	2	1	0	1	2	3	2	2	3	4	3	2	3	4	1	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr17:78395647G>A	ENST00000518137.1	+	3	276	c.248G>A	c.(247-249)cGc>cAc	p.R83H	ENDOV_ENST00000518644.1_5'UTR|MIR4730_ENST00000584535.1_RNA|ENDOV_ENST00000522751.1_Intron|ENDOV_ENST00000518901.1_Intron|ENDOV_ENST00000520367.1_Intron|ENDOV_ENST00000518907.1_Intron|ENDOV_ENST00000323854.5_Intron|ENDOV_ENST00000517295.2_5'UTR|ENDOV_ENST00000520284.1_Intron|ENDOV_ENST00000517795.1_Intron	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	83					DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GAGGAGAGCCGCATGGTCAGC	0.662								Direct reversal of damage																													p.R83H													.	.			0			c.G248A												39	45	43					17																	78395647		2184	4272	6456	SO:0001583	missense	284131	exon3			AGAGCCGCATGGT		CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.248G>A	17.37:g.78395647G>A	ENSP00000429190:p.Arg83His		33	0	0		14	0.21	3	NM_173627	18	0	0	I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	ENST00000518137.1	37	CCDS54172.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071336	0.36566	.	.	ENSG00000173818	ENST00000518137;ENST00000517295	T	0.17528	2.27	4.63	3.66	0.41972	.	0.401225	0.26176	N	0.025886	T	0.09468	0.0233	N	0.11651	0.15	0.80722	D	1	B	0.12630	0.006	B	0.16289	0.015	T	0.12041	-1.0563	10	0.45353	T	0.12	-11.6847	10.4517	0.44526	0.0917:0.0:0.9083:0.0	.	83	Q8N8Q3	ENDOV_HUMAN	H	83;58	ENSP00000429190:R83H	ENSP00000428283:R58H	R	+	2	0	ENDOV	76010242	1.000000	0.71417	0.175000	0.22980	0.908000	0.53690	1.748000	0.38308	1.162000	0.42619	0.591000	0.81541	CGC			0.662	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379487.1		NM_173627		A	78395647	G	A	78395647	3	1	82	1	0	0	0	0	1	0	0	0	5940	1087	38	1	258	1	FLJ35220	17	78395647	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	4358624	78395647	2799563	48	5828											
NDUFS7	374291	mdanderson.org	37	chr19	1393300	1393300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgaggggctgcgaccGcatcgtgcccgtggacatct	5	8	17	11	4	1	1	0	1	1	0	2	3	1	2	2	5	2	2	2	5	0	0	rs536671984		TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:1393300G>A	ENST00000233627.9	+	7	811	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NDUFS7_ENST00000414651.2_Missense_Mutation_p.R202H|NDUFS7_ENST00000313408.7_Missense_Mutation_p.R172H|NDUFS7_ENST00000546283.1_Missense_Mutation_p.R172H|AC005329.7_ENST00000501448.1_RNA|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000539480.1_Missense_Mutation_p.R172H|AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	172					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)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	Doxorubicin(DB00997)	GGCTGCGACCGCATCGTGCCC	0.692													G|||	1	0.000199681	0	0	5008	,	,		14888	0		0	False		,,,				2504	0.001				p.R172H													.	.			0			c.G515A												105	59	74					19																	1393300		2187	4288	6475	SO:0001583	missense	374291	exon7			GCGACCGCATCGT	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"Mitochondrial respiratory chain complex / Complex I"	7714	protein-coding gene	gene with protein product	"complex I 20kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"	601825	"NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.515G>A	19.37:g.1393300G>A	ENSP00000233627:p.Arg172His		35	0	0		45	0.07	3	NM_024407	151	0	0	B3KRI2|Q2T9H7|Q9BV17	Missense_Mutation	SNP	ENST00000233627.9	37	CCDS12063.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958814	0.74016	.	.	ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382	T;T;T;T;T	0.77229	-1.08;-1.01;-1.08;-1.08;-1.08	4.57	4.57	0.56435	NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2);	.	.	.	.	D	0.86372	0.5917	M	0.66506	2.035	0.80722	D	1	D;D;D;D	0.89917	1.0;0.99;1.0;1.0	D;P;D;D	0.97110	0.999;0.869;1.0;0.998	D	0.88129	0.2837	9	0.87932	D	0	.	14.8684	0.70434	0.0:0.0:1.0:0.0	.	172;179;172;172	F5H5N1;Q8NAS7;B3KRI2;O75251	.;.;.;NDUS7_HUMAN	H	172;172;172;172;202;91;91;91;91	ENSP00000440348:R172H;ENSP00000233627:R172H;ENSP00000443273:R172H;ENSP00000364262:R172H;ENSP00000406630:R202H	ENSP00000233627:R172H	R	+	2	0	NDUFS7	1344300	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.364000	0.73086	2.096000	0.63516	0.655000	0.94253	CGC			0.692	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397984.1		NM_024407		A	1393300	G	A	1393300	3	1	82	1	0	0	0	0	1	0	0	0	10314	1087	38	1	541	1	NDUFS7	19	1393300	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		1393300	57735683	49	5829											
TJP3	27134	mdanderson.org	37	chr19	3747807	3747807	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagctggatggctccttgGaggacaacctagacctccct	9	8	10	14	0	0	1	0	0	0	1	2	4	2	4	4	4	2	2	4	4	2	2			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:3747807G>T	ENST00000541714.2	+	19	2800	c.2338G>T	c.(2338-2340)Gag>Tag	p.E780*	TJP3_ENST00000262968.9_Nonsense_Mutation_p.E813*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.E789*|TJP3_ENST00000587686.1_Nonsense_Mutation_p.E799*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.E794*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.E744*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	780					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTCCTTGGAGGACAACCT	0.667																																					p.E789X													.	.			0			c.G2365T												30	25	27					19																	3747807		2200	4298	6498	SO:0001587	stop_gained	27134	exon19			TCCTTGGAGGACA	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2338G>T	19.37:g.3747807G>T	ENSP00000439278:p.Glu780*		11	0	0		13	0.15	2	NM_001267561	210	0	0	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Nonsense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	36	5.831698	0.97003	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	.	.	.	4.54	4.54	0.55810	.	0.338684	0.30446	N	0.009613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.4302	0.67243	0.0:0.0:1.0:0.0	.	.	.	.	X	780;744;794;813	.	ENSP00000262968:E813X	E	+	1	0	TJP3	3698807	1.000000	0.71417	0.862000	0.33874	0.015000	0.08874	5.935000	0.70145	2.062000	0.61559	0.561000	0.74099	GAG			0.667	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000453434.1				T	3747807	G	T	3747807	4	4	82	1	0	0	0	0	0	1	0	0	15954	1175	41	3	2507	3	TJP3	19	3747807	Nonsense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	2354507	3747807	55381176	50	5830											
LDLR	3949	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11210902	11210902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttttcctctctctcagtggGcgacagatgcgaaagaaacg	10	10	10	11	3	2	2	1	0	2	2	5	4	3	2	1	1	2	0	1	1	2	2			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:11210902G>T	ENST00000558518.1	+	2	258	c.71G>T	c.(70-72)gGc>gTc	p.G24V	LDLR_ENST00000545707.1_Missense_Mutation_p.G24V|LDLR_ENST00000558013.1_Missense_Mutation_p.G24V|LDLR_ENST00000455727.2_Missense_Mutation_p.G24V|LDLR_ENST00000535915.1_Missense_Mutation_p.G24V|LDLR_ENST00000557933.1_Missense_Mutation_p.G24V	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	24					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CTCTCAGTGGGCGACAGATGC	0.502																																					p.G24V	GBM(18;201 575 7820 21545)												.	LDLR	72		1	Unknown(1)	lung(1)	c.G71T												114	100	105					19																	11210902		2203	4300	6503	SO:0001583	missense	3949	exon2			CAGTGGGCGACAG	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.71G>T	19.37:g.11210902G>T	ENSP00000454071:p.Gly24Val		52	0	0		41	0.12	5	NM_001195800	4	0	0	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632674	0.29068	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.90620	-2.65;-2.57;-2.7	5.51	-5.04	0.02964	.	0.599365	0.13730	N	0.366776	T	0.78336	0.4267	L	0.39467	1.215	0.09310	N	0.999999	B;B;B;B;B	0.29716	0.001;0.255;0.006;0.003;0.003	B;B;B;B;B	0.22152	0.001;0.038;0.002;0.003;0.005	T	0.65425	-0.6171	10	0.28530	T	0.3	.	1.7609	0.02992	0.2028:0.2429:0.3884:0.166	.	24;24;24;36;24	B4DR00;B4DJZ8;B4DTQ3;Q59FQ1;P01130	.;.;.;.;LDLR_HUMAN	V	24	ENSP00000437639:G24V;ENSP00000440520:G24V;ENSP00000397829:G24V	ENSP00000252444:G24V	G	+	2	0	LDLR	11071902	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.207000	0.09384	-0.740000	0.04803	-0.225000	0.12378	GGC			0.502	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000415973.2				T	11210902	G	T	11210902	3	4	82	1	0	0	0	0	1	0	0	0	8719	1203	42	2	77	2	LDLR	19	11210902	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	7463095	11210902	47918081	51	5831											
CILP2	148113	mdanderson.org	37	chr19	19656103	19656103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtggtccccttccgagagGgcacacctgcctcctggact	6	8	11	16	2	0	1	0	0	0	1	3	3	3	2	6	3	1	1	6	3	0	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:19656103G>T	ENST00000291495.5	+	8	2834	c.2749G>T	c.(2749-2751)Ggc>Tgc	p.G917C	CILP2_ENST00000586018.1_Missense_Mutation_p.G923C	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	917						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTTCCGAGAGGGCACACCTGC	0.667																																					p.G917C													.	.			0			c.G2749T												38	28	32					19																	19656103		2203	4299	6502	SO:0001583	missense	148113	exon8			CGAGAGGGCACAC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2749G>T	19.37:g.19656103G>T	ENSP00000291495:p.Gly917Cys		86	0	0		45	0.07	3	NM_153221	8	0	0	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235628	0.58886	.	.	ENSG00000160161	ENST00000291495	T	0.09723	2.95	5.79	4.56	0.56223	.	0.246622	0.41823	D	0.000818	T	0.15696	0.0378	L	0.36672	1.1	0.39587	D	0.969521	D;D	0.58620	0.983;0.983	P;P	0.55785	0.784;0.784	T	0.00276	-1.1855	10	0.62326	D	0.03	-17.3311	8.8939	0.35451	0.1726:0.0:0.8274:0.0	.	917;917	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	C	917	ENSP00000291495:G917C	ENSP00000291495:G917C	G	+	1	0	CILP2	19517103	0.998000	0.40836	0.969000	0.41365	0.565000	0.35776	2.155000	0.42301	2.757000	0.94681	0.555000	0.69702	GGC			0.667	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459738.3		NM_153221		T	19656103	G	T	19656103	3	4	82	1	0	0	0	0	1	0	0	0	3432	1232	43	3	2779	3	CILP2	19	19656103	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	8445201	19656103	39472880	52	5832											
FAM187B	148109	bcgsc.ca	37	chr19	35715837	35715837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgagcagcaccagcttcAgccccttgagcacggagtcc	9	5	10	17	2	1	1	1	1	0	0	2	3	2	2	5	1	5	4	5	1	0	2			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:35715837A>G	ENST00000324675.3	-	2	1049	c.1001T>C	c.(1000-1002)cTg>cCg	p.L334P		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	334						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CACCAGCTTCAGCCCCTTGAG	0.672																																					p.L334P													.	FAM187B	28		0			c.T1001C												36	37	36					19																	35715837		2203	4300	6503	SO:0001583	missense	148109	exon2			AGCTTCAGCCCCT	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.1001T>C	19.37:g.35715837A>G	ENSP00000323355:p.Leu334Pro		57	0.0175438596	1		45	0.09	4	NM_152481	0		0	Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661746	0.47572	.	.	ENSG00000177558	ENST00000324675	T	0.48201	0.82	4.28	3.26	0.37387	.	0.493329	0.15054	N	0.283160	T	0.53158	0.1779	L	0.36672	1.1	0.23806	N	0.996799	D	0.89917	1.0	D	0.79108	0.992	T	0.33777	-0.9855	10	0.87932	D	0	-18.5825	5.8655	0.18773	0.8818:0.0:0.1182:0.0	.	334	Q17R55	F187B_HUMAN	P	334	ENSP00000323355:L334P	ENSP00000323355:L334P	L	-	2	0	FAM187B	40407677	0.007000	0.16637	0.101000	0.21167	0.011000	0.07611	2.400000	0.44504	1.924000	0.55735	0.460000	0.39030	CTG			0.672	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378854.1		NM_152481		G	35715837	A	G	35715837	3	3	82	1	0	0	0	0	1	0	0	0	5523	188	7	4	112	4	FAM187B	19	35715837	Missense_Mutation	SNP	A	TCGA-4K-AA1G-01A-11D-A435-10	16059734	35715837	23413146	53	5833											
GAPDHS	26330	broad.mit.edu	37	chr19	36033899	36033899	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgccaaagtcatccacGagcgatttgggatcgtggaa	10	8	11	12	4	1	0	1	0	0	0	4	4	2	2	3	2	1	0	3	2	2	1	rs150710154	byFrequency	TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:36033899G>T	ENST00000222286.4	+	7	828	c.712G>T	c.(712-714)Gag>Tag	p.E238*	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000222284.5_5'Flank|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_5'Flank|TMEM147_ENST00000392204.2_5'Flank|AD000090.2_ENST00000444728.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	238					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	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)			AGTCATCCACGAGCGATTTGG	0.582																																					p.E238X													.	GAPDHS	34		0			c.G712T												139	100	113					19																	36033899		2203	4300	6503	SO:0001587	stop_gained	26330	exon7			ATCCACGAGCGAT	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.712G>T	19.37:g.36033899G>T	ENSP00000222286:p.Glu238*		129	0	0		94	0.03	3	NM_014364	6	0	0	B2RC82|O60823|Q6JTT9|Q9HCU6	Nonsense_Mutation	SNP	ENST00000222286.4	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284610	0.80803	.	.	ENSG00000105679	ENST00000222286	.	.	.	5.42	5.42	0.78866	.	0.056530	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-39.6251	17.076	0.86586	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000222286:E238X	E	+	1	0	GAPDHS	40725739	1.000000	0.71417	0.817000	0.32601	0.075000	0.17131	9.869000	0.99810	2.705000	0.92388	0.555000	0.69702	GAG			0.582	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460423.1		NM_014364		T	36033899	G	T	36033899	4	4	82	1	0	0	0	0	0	1	0	0	6251	1059	37	1	738	1	GAPDHS	19	36033899	Nonsense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	318062	36033899	23095084	54	5834											
ZNF234	10780	broad.mit.edu	37	chr19	44661286	44661286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactggagagaaaccatacGtatgtaaagtgtgtggtaag	15	9	12	5	1	0	1	0	0	0	1	0	3	0	2	1	2	2	3	1	2	6	4			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:44661286G>T	ENST00000426739.2	+	6	1375	c.1117G>T	c.(1117-1119)Gta>Tta	p.V373L	ZNF234_ENST00000592437.1_Missense_Mutation_p.V373L	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	373					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)				GAAACCATACGTATGTAAAGT	0.443																																					p.V373L													.	ZNF234	132		0			c.G1117T												56	60	59					19																	44661286		2133	4273	6406	SO:0001583	missense	10780	exon6			CCATACGTATGTA	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.1117G>T	19.37:g.44661286G>T	ENSP00000400878:p.Val373Leu		103	0	0		78	0.04	3	NM_006630	6	0	0	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	9.851	1.193772	0.22037	.	.	ENSG00000167380	ENST00000426739	T	0.27890	1.64	3.48	-2.9	0.05648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17023	0.0409	N	0.20445	0.575	0.09310	N	1	B	0.15473	0.013	B	0.17722	0.019	T	0.27673	-1.0067	9	0.66056	D	0.02	.	5.9871	0.19440	0.6454:0.0:0.2134:0.1412	.	373	Q14588	ZN234_HUMAN	L	373	ENSP00000400878:V373L	ENSP00000400878:V373L	V	+	1	0	ZNF226	49353126	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	-3.859000	0.00348	-0.506000	0.06558	0.591000	0.81541	GTA			0.443	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460586.2				T	44661286	G	T	44661286	3	4	82	1	0	0	0	0	1	0	0	0	17810	1145	40	1	1131	1	ZNF234	19	44661286	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	8627387	44661286	14467697	55	5835											
GYS1	2997	mdanderson.org	37	chr19	49473877	49473877	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgatacgctgccgccGgctctgctgacagaaactgt	8	9	12	12	3	1	3	0	2	1	1	1	4	1	4	2	2	4	3	2	2	2	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:49473877G>T	ENST00000323798.3	-	14	1931	c.1735C>A	c.(1735-1737)Cgg>Agg	p.R579R	GYS1_ENST00000263276.6_Silent_p.R515R|GYS1_ENST00000541188.1_Silent_p.R499R|GYS1_ENST00000544287.1_Silent_p.R212R	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	579					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)		CGCTGCCGCCGGCTCTGCTGA	0.597											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R579R													.	.			0			c.C1735A												34	38	37					19																	49473877		2203	4300	6503	SO:0001819	synonymous_variant	2997	exon14			GCCGCCGGCTCTG		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.1735C>A	19.37:g.49473877G>T			54	0	0	962	55	0.05	3	NM_002103	36	0	0	Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1																																																																																					0.597	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319791.1		NM_002103		T	49473877	G	T	49473877	2	4	82	1	0	0	0	0	0	0	0	1	6927	1115	39	1		1	GYS1	19	49473877	Silent	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	4812591	49473877	9655106	56	5836											
CACNG8	59283	mdanderson.org	37	chr19	54466566	54466566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgcaacaccaccaaccTcacggccggcggcgacgacg	10	3	10	18	6	2	0	1	0	1	0	2	2	2	0	4	3	3	1	4	3	2	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:54466566T>C	ENST00000270458.2	+	1	273	c.170T>C	c.(169-171)cTc>cCc	p.L57P		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	57					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		ACCACCAACCTCACGGCCGGC	0.711																																					p.L57P													.	.			0			c.T170C												27	26	26					19																	54466566		2202	4299	6501	SO:0001583	missense	59283	exon1			CCAACCTCACGGC	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"Calcium channel subunits"	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.170T>C	19.37:g.54466566T>C	ENSP00000270458:p.Leu57Pro		42	0	0		20	0.1	2	NM_031895	0		0	Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137252	0.56936	.	.	ENSG00000142408	ENST00000270458	T	0.47869	0.83	3.52	3.52	0.40303	.	0.158752	0.38720	U	0.001587	T	0.48786	0.1519	L	0.34521	1.04	0.23304	N	0.997949	D	0.62365	0.991	P	0.57620	0.824	T	0.61307	-0.7089	9	0.48119	T	0.1	-18.2547	10.3066	0.43685	0.0:0.0:0.0:1.0	.	57	Q8WXS5	CCG8_HUMAN	P	57	ENSP00000270458:L57P	ENSP00000270458:L57P	L	+	2	0	CACNG8	59158378	0.561000	0.26578	0.998000	0.56505	0.914000	0.54420	1.159000	0.31749	1.379000	0.46325	0.247000	0.18012	CTC			0.711	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000139361.3				C	54466566	T	C	54466566	3	2	82	1	0	0	0	0	1	0	0	0	2565	1551	54	4	172	4	CACNG8	19	54466566	Missense_Mutation	SNP	T	TCGA-4K-AA1G-01A-11D-A435-10	4992689	54466566	4662417	57	5837											
ZNF8	7554	broad.mit.edu	37	chr19	58805784	58805784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtatttgtatacttacGactcacagattacagactca	13	12	8	8	1	2	2	2	0	0	2	2	4	2	3	0	1	3	2	0	1	5	6	rs147895869		TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr19:58805784G>T	ENST00000196548.5	+	4	741	c.610G>T	c.(610-612)Gac>Tac	p.D204Y	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.D204Y			P17098	ZNF8_HUMAN	zinc finger protein 8	204					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GTATACTTACGACTCACAGAT	0.473																																					p.D204Y													.	ZNF8	60		0			c.G610T												42	40	41					19																	58805784		2203	4300	6503	SO:0001583	missense	7554	exon4			ACTTACGACTCAC	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.610G>T	19.37:g.58805784G>T	ENSP00000196548:p.Asp204Tyr		180	0	0		148	0.03	4	NM_021089	14	0	0	Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.669241	0.29604	.	.	ENSG00000083842	ENST00000196548	T	0.07216	3.21	4.8	-1.03	0.10102	.	0.699395	0.13039	N	0.418713	T	0.13756	0.0333	L	0.50333	1.59	0.09310	N	1	D	0.57257	0.979	P	0.54431	0.752	T	0.12811	-1.0533	10	0.72032	D	0.01	-10.2126	8.5601	0.33505	0.4934:0.0:0.5066:0.0	.	204	P17098	ZNF8_HUMAN	Y	204	ENSP00000196548:D204Y	ENSP00000196548:D204Y	D	+	1	0	ZNF8	63497596	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.104000	0.15313	-0.110000	0.12022	-0.727000	0.03589	GAC			0.473	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding		OTTHUMT00000459135.1		NM_021089		T	58805784	G	T	58805784	3	4	82	1	0	0	0	0	1	0	0	0	18190	1058	37	1	624	1	ZNF8	19	58805784	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	4339218	58805784	323199	58	5838											
ATRN	8455	mdanderson.org	37	chr20	3557613	3557613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagaactgccagtgggaGccccggaatcaggagtgcat	11	5	14	11	1	1	1	1	0	0	1	1	5	1	4	4	3	4	1	4	3	2	0			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr20:3557613G>T	ENST00000262919.5	+	14	2390	c.2322G>T	c.(2320-2322)gaG>gaT	p.E774D	ATRN_ENST00000446916.2_Missense_Mutation_p.E774D	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	774	PSI 2.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCAGTGGGAGCCCCGGAATC	0.552																																					p.E774D													.	.			0			c.G2322T												97	93	95					20																	3557613		2203	4300	6503	SO:0001583	missense	8455	exon14			GTGGGAGCCCCGG	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2322G>T	20.37:g.3557613G>T	ENSP00000262919:p.Glu774Asp		61	0	0		37	0.08	3	NM_139322	112	0	0	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	3.413	-0.119787	0.06838	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.05717	3.4;3.47	5.81	3.51	0.40186	.	0.110120	0.64402	D	0.000005	T	0.04952	0.0133	L	0.29908	0.895	0.50313	D	0.99986	B;B	0.16166	0.001;0.016	B;B	0.19148	0.003;0.024	T	0.38478	-0.9659	10	0.16896	T	0.51	-19.0257	10.0175	0.42022	0.2417:0.0:0.7583:0.0	.	774;774	O75882;O75882-2	ATRN_HUMAN;.	D	774;774;700	ENSP00000262919:E774D;ENSP00000416587:E774D	ENSP00000262919:E774D	E	+	3	2	ATRN	3505613	0.463000	0.25799	1.000000	0.80357	0.998000	0.95712	0.528000	0.23002	1.441000	0.47550	0.561000	0.74099	GAG			0.552	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000077740.2		NM_139321		T	3557613	G	T	3557613	3	4	82	1	0	0	0	0	1	0	0	0	1206	962	34	2	2376	2	ATRN	20	3557613	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		3557613	59467907	59	5839											
C20orf152	140894	mdanderson.org	37	chr20	34572642	34572642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccgggaggacttctttGctaataagctggaccaggaa	11	10	12	8	1	1	1	0	1	1	0	1	5	1	5	2	4	2	2	2	4	3	5			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr20:34572642G>T	ENST00000373973.3	+	6	831	c.658G>T	c.(658-660)Gct>Tct	p.A220S	CNBD2_ENST00000538900.1_Missense_Mutation_p.A220S|CNBD2_ENST00000349339.1_Missense_Mutation_p.A220S			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	220																	GGACTTCTTTGCTAATAAGCT	0.453																																					p.A220S													.	.			0			c.G658T												194	174	181					20																	34572642		2203	4300	6503	SO:0001583	missense	140894	exon6			TTCTTTGCTAATA	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.658G>T	20.37:g.34572642G>T	ENSP00000363084:p.Ala220Ser		130	0.0076923077	1		110	0.05	5	NM_001207076	0		0	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37		.	.	.	.	.	.	.	.	.	.	G	6.335	0.429855	0.11987	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.12255	2.7;2.7;2.7	4.98	2.93	0.34026	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.840844	0.10432	N	0.675380	T	0.10121	0.0248	L	0.29908	0.895	0.09310	N	1	B;P	0.35575	0.362;0.51	B;B	0.36567	0.173;0.228	T	0.34825	-0.9813	10	0.17369	T	0.5	-0.0051	7.5562	0.27824	0.0998:0.1658:0.7345:0.0	.	220;220	Q96M20;Q96M20-2	CT152_HUMAN;.	S	220	ENSP00000363084:A220S;ENSP00000340954:A220S;ENSP00000442729:A220S	ENSP00000340954:A220S	A	+	1	0	C20orf152	34036056	0.066000	0.20996	0.000000	0.03702	0.078000	0.17371	1.747000	0.38298	0.536000	0.28733	-0.176000	0.13171	GCT			0.453	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000078960.2		NM_080834		T	34572642	G	T	34572642	3	4	82	1	0	0	0	0	1	0	0	0	2094	1319	46	2	680	2	C20orf152	20	34572642	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	31015029	34572642	28452878	60	5840											
XBP1	7494	mdanderson.org	37	chr22	29192120	29192120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcctgcacctgctgcagagGtgcacgtagtctgagtgctg	6	9	15	11	1	1	2	0	1	1	1	1	2	1	2	2	2	5	6	2	2	1	1			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chr22:29192120G>T	ENST00000216037.6	-	4	586	c.514C>A	c.(514-516)Cct>Act	p.P172T	XBP1_ENST00000344347.5_Intron|XBP1_ENST00000405219.3_Missense_Mutation_p.P122T|XBP1_ENST00000403532.3_Missense_Mutation_p.P177T	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	172					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TGCTGCAGAGGTGCACGTAGT	0.547																																					p.P172T													.	.			0			c.C514A												106	112	110					22																	29192120		2203	4300	6503	SO:0001583	missense	7494	exon4			GCAGAGGTGCACG	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"basic leucine zipper proteins"	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.514C>A	22.37:g.29192120G>T	ENSP00000216037:p.Pro172Thr		48	0	0		28	0.11	3	NM_005080	326	0	0	Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	ENST00000216037.6	37	CCDS13847.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675560	0.88445	.	.	ENSG00000100219	ENST00000216037;ENST00000403532;ENST00000405219	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.74764	0.3759	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75150	-0.3419	8	0.62326	D	0.03	.	18.9431	0.92611	0.0:0.0:1.0:0.0	.	122	B1AHH1	.	T	172;177;122	.	ENSP00000216037:P172T	P	-	1	0	XBP1	27522120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.083000	0.94067	2.725000	0.93324	0.655000	0.94253	CCT			0.547	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000321274.1		NM_005080		T	29192120	G	T	29192120	3	4	82	1	0	0	0	0	1	0	0	0	17446	1261	44	3	650	3	XBP1	22	29192120	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		29192120	22112446	61	5841											
STARD8	9754	bcgsc.ca	37	chrX	67940201	67940201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccacgtgcagcgcacggGccagccactgccacagagca	10	3	11	17	3	0	1	0	0	0	1	1	1	1	1	4	1	5	3	4	1	0	0	rs201883068|rs373427165		TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chrX:67940201G>C	ENST00000252336.6	+	7	2117	c.1745G>C	c.(1744-1746)gGc>gCc	p.G582A	STARD8_ENST00000374599.3_Missense_Mutation_p.G662A|STARD8_ENST00000374597.3_Missense_Mutation_p.G582A	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	582	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAGCGCACGGGCCAGCCACTG	0.617																																					p.G662A													.	STARD8	282		0			c.G1985C												34	24	28					X																	67940201		2202	4298	6500	SO:0001583	missense	9754	exon8			GCACGGGCCAGCC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1745G>C	X.37:g.67940201G>C	ENSP00000252336:p.Gly582Ala		123	0.1056910569	13		105	0.32	34	NM_001142503	81	0	0	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671428	0.88348	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.25250	1.81;1.81;1.81	4.45	4.45	0.53987	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.50871	0.1641	M	0.87269	2.87	0.80722	D	1	P;P	0.52170	0.854;0.951	P;P	0.58721	0.844;0.806	T	0.60198	-0.7310	10	0.66056	D	0.02	.	13.5176	0.61549	0.0:0.0:1.0:0.0	.	662;582	Q92502-2;Q92502	.;STAR8_HUMAN	A	582;662;582	ENSP00000252336:G582A;ENSP00000363727:G662A;ENSP00000363725:G582A	ENSP00000252336:G582A	G	+	2	0	STARD8	67856926	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.112000	0.94314	2.050000	0.60909	0.600000	0.82982	GGC			0.617	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057026.2		NM_014725		C	67940201	G	C	67940201	3	2	82	1	0	0	0	0	1	0	0	0	15286	1203	42	5	2015	5	STARD8	23	67940201	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10		67940201	87330359	62	5842											
BTK	695	mdanderson.org	37	chrX	100625019	100625019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatccaccgcttccttaGttcttcagttggggagaaga	9	12	11	9	1	2	3	1	1	1	2	4	4	4	3	3	2	0	3	3	2	3	5			TCGA-4K-AA1G-01A-11D-A435-10	TCGA-4K-AA1G-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	14124f8f-2370-40de-94e3-012ff511bac1	3644a980-951f-4811-b56c-4d02e52f5252	g.chrX:100625019G>T	ENST00000308731.7	-	5	521	c.358C>A	c.(358-360)Cta>Ata	p.L120I	BTK_ENST00000372880.1_Missense_Mutation_p.L120I	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CGCTTCCTTAGTTCTTCAGTT	0.423									Agammaglobulinemia, X-linked																												p.L120I													.	.			0			c.C358A												108	99	102					X																	100625019		2203	4300	6503	SO:0001583	missense	695	exon5	Familial Cancer Database	Bruton Type Agammaglobulinemia	TCCTTAGTTCTTC	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.358C>A	X.37:g.100625019G>T	ENSP00000308176:p.Leu120Ile		62	0	0		42	0.07	3	NM_000061	3	0	0	B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088804	0.55968	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	T;T	0.75477	-0.94;-0.94	5.03	4.16	0.48862	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.322422	0.30869	N	0.008705	T	0.60508	0.2274	N	0.12182	0.205	0.37618	D	0.921206	B;B;B	0.24186	0.099;0.043;0.059	B;B;B	0.35073	0.195;0.066;0.036	T	0.61158	-0.7119	10	0.46703	T	0.11	.	10.2251	0.43220	0.1657:0.0:0.8343:0.0	.	120;120;120	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	I	120	ENSP00000361971:L120I;ENSP00000308176:L120I	ENSP00000308176:L120I	L	-	1	2	BTK	100511675	0.981000	0.34729	1.000000	0.80357	0.989000	0.77384	0.796000	0.26986	1.016000	0.39470	0.544000	0.68410	CTA			0.423	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057532.2		NM_000061		T	100625019	G	T	100625019	3	4	82	1	0	0	0	0	1	0	0	0	1559	1020	36	3	1681	3	BTK	23	100625019	Missense_Mutation	SNP	G	TCGA-4K-AA1G-01A-11D-A435-10	32684818	100625019	54645541	63	5843											
PGD	5226	mdanderson.org	37	chr1	10479496	10479496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggcggcgggcagtcaGcactggggtccaggctggca	5	6	17	13	2	1	0	1	0	0	0	3	0	3	0	2	7	1	4	2	7	0	0			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:10479496G>T	ENST00000270776.8	+	12	1270	c.1232G>T	c.(1231-1233)aGc>aTc	p.S411I	PGD_ENST00000541529.1_Missense_Mutation_p.S389I|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000538557.1_Missense_Mutation_p.S398I	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	411					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CGGGCAGTCAGCACTGGGGTC	0.557																																					p.S411I													.	.			0			c.G1232T												79	80	80					1																	10479496		2203	4300	6503	SO:0001583	missense	5226	exon12			CAGTCAGCACTGG	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1232G>T	1.37:g.10479496G>T	ENSP00000270776:p.Ser411Ile		29	0	0		37	0.08	3	NM_002631	376	0	0	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612844	0.87258	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.43294	0.95;0.95;0.95	4.96	4.96	0.65561	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.037949	0.85682	D	0.000000	T	0.62624	0.2443	L	0.57130	1.785	0.80722	D	1	P;D;D	0.76494	0.935;0.999;0.999	P;D;D	0.80764	0.613;0.994;0.994	T	0.65656	-0.6115	10	0.72032	D	0.01	-28.2128	18.6104	0.91283	0.0:0.0:1.0:0.0	.	389;411;411	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	I	389;357;411;398	ENSP00000442285:S389I;ENSP00000270776:S411I;ENSP00000437822:S398I	ENSP00000270776:S411I	S	+	2	0	PGD	10402083	1.000000	0.71417	0.368000	0.25939	0.829000	0.46940	7.272000	0.78516	2.465000	0.83290	0.555000	0.69702	AGC			0.557	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005398.1		NM_002631		T	10479496	G	T	10479496	3	4	83	1	0	0	0	0	1	0	0	0	11804	971	34	2	1278	2	PGD	1	10479496	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		10479496	238771125	1	5844											
IL28RA	163702	mdanderson.org	37	chr1	24484350	24484350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggtctgctgggctgaaagGttgccacagggtgtgtgtgt	5	12	17	7	0	1	1	0	1	1	0	1	1	1	1	1	4	2	3	1	4	1	1			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:24484350G>T	ENST00000327535.1	-	7	845	c.833C>A	c.(832-834)aCc>aAc	p.T278N	IFNLR1_ENST00000374421.3_Intron|IFNLR1_ENST00000327575.2_Missense_Mutation_p.N234K	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	278					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GGGCTGAAAGGTTGCCACAGG	0.512																																					p.T278N													.	.			0			c.C833A												69	76	74					1																	24484350		2203	4300	6503	SO:0001583	missense	163702	exon7			TGAAAGGTTGCCA	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.833C>A	1.37:g.24484350G>T	ENSP00000327824:p.Thr278Asn		33	0	0		47	0.06	3	NM_170743	5	0	0	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	CCDS248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.97|11.97	1.799005|1.799005	0.31777|0.31777	.|.	.|.	ENSG00000185436|ENSG00000185436	ENST00000327575|ENST00000327535	.|.	.|.	.|.	5.38|5.38	3.48|3.48	0.39840|0.39840	.|.	.|0.592401	.|0.16314	.|N	.|0.219856	T|T	0.45377|0.45377	0.1339|0.1339	M|M	0.61703|0.61703	1.905|1.905	0.20975|0.20975	N|N	0.999811|0.999811	B|P	0.30068|0.48911	0.267|0.917	B|P	0.28139|0.49226	0.086|0.603	T|T	0.25117|0.25117	-1.0141|-1.0141	8|9	0.66056|0.33141	D|T	0.02|0.24	-12.2625|-12.2625	8.6106|8.6106	0.33800|0.33800	0.1859:0.0:0.814:0.0|0.1859:0.0:0.814:0.0	.|.	234|278	Q8IV66|Q8IU57	.|I28RA_HUMAN	K|N	234|278	.|.	ENSP00000328994:N234K|ENSP00000327824:T278N	N|T	-|-	3|2	2|0	IL28RA|IL28RA	24356937|24356937	0.975000|0.975000	0.34042|0.34042	0.869000|0.869000	0.34112|0.34112	0.018000|0.018000	0.09664|0.09664	2.029000|2.029000	0.41098|0.41098	1.414000|1.414000	0.47017|0.47017	0.655000|0.655000	0.94253|0.94253	AAC|ACC			0.512	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000008402.1		NM_170743		T	24484350	G	T	24484350	3	4	83	1	0	0	0	0	1	0	0	0	7699	1261	44	3	733	3	IL28RA	1	24484350	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	14004854	24484350	224766271	2	5845											
SLC26A9	115019	mdanderson.org	37	chr1	205890930	205890930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgttgttggggtcggtggGgggcgcattctcaaagtcct	4	13	17	7	2	1	0	1	0	1	0	4	0	2	0	1	6	0	4	1	6	1	4	rs375835575		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:205890930G>T	ENST00000367135.3	-	17	1932	c.1819C>A	c.(1819-1821)Ccc>Acc	p.P607T	SLC26A9_ENST00000367134.2_Missense_Mutation_p.P607T|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P607T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	607	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)			GGGTCGGTGGGGGGCGCATTC	0.622																																					p.P607T													.	.			0			c.C1819A												76	63	68					1																	205890930		2203	4300	6503	SO:0001583	missense	115019	exon17			CGGTGGGGGGCGC	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.1819C>A	1.37:g.205890930G>T	ENSP00000356103:p.Pro607Thr		40	0	0		39	0.08	3	NM_134325	0		0	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	1.923	-0.447971	0.04572	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92545	-3.06;-3.01;-3.06	4.44	0.247	0.15521	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.337703	0.30347	N	0.009840	D	0.88768	0.6526	L	0.52364	1.645	0.09310	N	1	B;P	0.38048	0.338;0.616	B;P	0.45377	0.239;0.478	T	0.79137	-0.1927	10	0.28530	T	0.3	.	6.3572	0.21408	0.2318:0.1321:0.6361:0.0	.	607;607	Q7LBE3;B1AVM8	S26A9_HUMAN;.	T	607	ENSP00000341682:P607T;ENSP00000356103:P607T;ENSP00000356102:P607T	ENSP00000341682:P607T	P	-	1	0	SLC26A9	204157553	1.000000	0.71417	0.000000	0.03702	0.007000	0.05969	4.086000	0.57664	-0.046000	0.13446	-0.176000	0.13171	CCC			0.622	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087742.1		NM_052934		T	205890930	G	T	205890930	3	4	83	1	0	0	0	0	1	0	0	0	14547	1232	43	3	872	3	SLC26A9	1	205890930	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	181406580	205890930	43359691	3	5846											
EPHX1	2052	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	226019577	226019577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactacctgaagaaagtcaTctcctactggcggaatgaat	14	9	8	10	1	2	3	1	2	1	1	3	4	2	4	2	2	3	0	2	2	7	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:226019577T>C	ENST00000366837.4	+	3	477	c.281T>C	c.(280-282)aTc>aCc	p.I94T	EPHX1_ENST00000467015.1_3'UTR|EPHX1_ENST00000272167.5_Missense_Mutation_p.I94T	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	94					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AAGAAAGTCATCTCCTACTGG	0.463																																					p.I94T													.	.			0			c.T281C												114	105	108					1																	226019577		2203	4300	6503	SO:0001583	missense	2052	exon3			AAGTCATCTCCTA	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.281T>C	1.37:g.226019577T>C	ENSP00000355802:p.Ile94Thr		106	0	0		125	0.06	7	NM_001136018	267	0.03	8	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306787	0.40795	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.03889	3.77;3.77;3.77;3.77	5.71	3.42	0.39159	Epoxide hydrolase, N-terminal (1);	0.924044	0.09013	N	0.861290	T	0.04092	0.0114	N	0.16166	0.38	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.40553	-0.9557	10	0.62326	D	0.03	-8.0959	9.7057	0.40214	0.0:0.1394:0.0:0.8606	.	94	P07099	HYEP_HUMAN	T	94	ENSP00000398491:I94T;ENSP00000272167:I94T;ENSP00000408469:I94T;ENSP00000355802:I94T	ENSP00000272167:I94T	I	+	2	0	EPHX1	224086200	0.979000	0.34478	0.312000	0.25196	0.900000	0.52787	6.075000	0.71261	0.999000	0.39023	-0.297000	0.09499	ATC			0.463	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092064.1		NM_000120		C	226019577	T	C	226019577	3	2	83	1	0	0	0	0	1	0	0	0	5186	1435	50	4	287	4	EPHX1	1	226019577	Missense_Mutation	SNP	T	TCGA-4K-AA1H-01A-11D-A435-10	20128647	226019577	23231044	4	5847											
OBSCN	84033	mdanderson.org	37	chr1	228529235	228529235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgcaagtacctgctgcAggcacggacagccattatca	10	7	12	12	2	1	0	1	0	0	0	1	1	1	1	2	3	5	5	2	3	3	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:228529235A>G	ENST00000422127.1	+	74	17998	c.17954A>G	c.(17953-17955)cAg>cGg	p.Q5985R	OBSCN_ENST00000366707.4_Missense_Mutation_p.Q3619R|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q3104R|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q6942R|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q5985R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5985	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)				TACCTGCTGCAGGCACGGACA	0.637																																					p.Q6942R													.	.			0			c.A20825G												44	56	52					1																	228529235		2172	4264	6436	SO:0001583	missense	84033	exon85			TGCTGCAGGCACG	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.17954A>G	1.37:g.228529235A>G	ENSP00000409493:p.Gln5985Arg		29	0	0		33	0.09	3	NM_001271223	5	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	35	5.528592	0.96446	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.36524	0.0970	M	0.79123	2.44	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.21109	-1.0255	10	0.14656	T	0.56	.	15.5551	0.76187	1.0:0.0:0.0:0.0	.	5985;5985	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	5985;5985;3619;3104	ENSP00000284548:Q5985R;ENSP00000409493:Q5985R;ENSP00000355668:Q3619R;ENSP00000355670:Q3104R	ENSP00000284548:Q5985R	Q	+	2	0	OBSCN	226595858	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.273000	0.95719	2.086000	0.62901	0.460000	0.39030	CAG			0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		G	228529235	A	G	228529235	3	3	83	1	0	0	0	0	1	0	0	0	10829	188	7	4	18244	4	OBSCN	1	228529235	Missense_Mutation	SNP	A	TCGA-4K-AA1H-01A-11D-A435-10	2509658	228529235	20721386	5	5848											
FMN2	56776	broad.mit.edu;mdanderson.org	37	chr1	240371502	240371502	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacccggagcgggcataccCcctcctccccctcttcccgg	4	7	8	22	3	1	0	0	0	1	0	4	1	4	1	7	3	3	1	7	3	2	3	rs200984130		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:240371502C>T	ENST00000319653.9	+	5	3620	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1130	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCTCCTCCCC	0.721																																					p.P1130P													.	FMN2	451		0			c.C3390T												7	8	8					1																	240371502		2106	4124	6230	SO:0001819	synonymous_variant	56776	exon5			CATACCCCCTCCT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3390C>T	1.37:g.240371502C>T			35	0	0		55	0.11	6	NM_020066	0		0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																					0.721	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		T	240371502	C	T	240371502	2	4	83	1	0	0	0	0	0	0	0	1	5963	610	22	3		3	FMN2	1	240371502	Silent	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10	11842267	240371502	8879119	6	5849											
ZNF692	55657	mdanderson.org	37	chr1	249148143	249148143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccactcaccactgtgCagcttcatgtgctccttcag	7	12	6	16	0	3	0	3	0	0	0	5	0	5	0	4	0	3	3	4	0	0	3			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:249148143C>T	ENST00000306601.4	-	10	1312	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	ZNF692_ENST00000366469.5_Silent_p.L381L|ZNF692_ENST00000366471.3_Silent_p.L337L|ZNF692_ENST00000451251.1_Silent_p.L387L|ZNF692_ENST00000468455.1_5'Flank|ZNF692_ENST00000427146.1_Silent_p.L337L	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	382					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)			CACCACTGTGCAGCTTCATGT	0.532																																					p.L387L													.	.			0			c.G1161A												105	100	102					1																	249148143		2203	4300	6503	SO:0001819	synonymous_variant	55657	exon10			ACTGTGCAGCTTC	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.1146G>A	1.37:g.249148143C>T			57	0	0		68	0.06	4	NM_001136036	43	0	0	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	37	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	8.452	0.853326	0.17106	.	.	ENSG00000171163	ENST00000476503	.	.	.	4.15	2.23	0.28157	.	.	.	.	.	T	0.53578	0.1805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43702	-0.9375	4	.	.	.	-11.1048	5.6061	0.17381	0.0:0.6872:0.2018:0.1109	.	.	.	.	T	136	.	.	A	-	1	0	ZNF692	247114766	0.994000	0.37717	1.000000	0.80357	0.957000	0.61999	0.253000	0.18296	0.501000	0.28013	0.561000	0.74099	GCA			0.532	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000097298.1		NM_017865		T	249148143	C	T	249148143	2	4	83	1	0	0	0	0	0	0	0	1	18120	697	25	2		2	ZNF692	1	249148143	Silent	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10	8776641	249148143	102478	7	5850											
MCM6	4175	mdanderson.org	37	chr2	136615517	136615517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgttccatagcttcatGaatagcaacttgatcccgca	10	12	7	12	1	1	2	1	2	0	0	3	2	3	2	2	0	4	5	2	0	4	5			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr2:136615517G>T	ENST00000264156.2	-	10	1480	c.1420C>A	c.(1420-1422)Cat>Aat	p.H474N	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	474	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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		ATAGCTTCATGAATAGCAACT	0.418																																					p.H474N	Ovarian(196;141 2104 8848 24991 25939)												.	.			0			c.C1420A												283	225	244					2																	136615517		2203	4300	6503	SO:0001583	missense	4175	exon10			CTTCATGAATAGC		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1420C>A	2.37:g.136615517G>T	ENSP00000264156:p.His474Asn		96	0	0		121	0.04	5	NM_005915	122	0	0	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158511	0.94686	.	.	ENSG00000076003	ENST00000264156	T	0.10860	2.83	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69815	-0.5043	10	0.87932	D	0	-17.2502	19.7831	0.96426	0.0:0.0:1.0:0.0	.	474	Q14566	MCM6_HUMAN	N	474	ENSP00000264156:H474N	ENSP00000264156:H474N	H	-	1	0	MCM6	136331987	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.687000	0.91594	0.561000	0.74099	CAT			0.418	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254658.1		NM_005915		T	136615517	G	T	136615517	3	4	83	1	0	0	0	0	1	0	0	0	9407	1290	45	3	1077	3	MCM6	2	136615517	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		136615517	106583856	8	5851											
STAB1	23166	mdanderson.org	37	chr3	52552811	52552811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttggctgtcggcggctgCggagcgaggacctgctggag	4	8	20	9	4	0	0	0	0	0	0	1	4	0	3	1	7	3	4	1	7	0	1			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr3:52552811C>T	ENST00000321725.6	+	48	5036	c.4960C>T	c.(4960-4962)Cgg>Tgg	p.R1654W		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1654	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				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)		TCGGCGGCTGCGGAGCGAGGA	0.701																																					p.R1654W													.	.			0			c.C4960T												28	33	31					3																	52552811		2201	4297	6498	SO:0001583	missense	23166	exon48			CGGCTGCGGAGCG	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.4960C>T	3.37:g.52552811C>T	ENSP00000312946:p.Arg1654Trp		40	0	0		75	0.05	4	NM_015136	25	0	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	9.187	1.025099	0.19433	.	.	ENSG00000010327	ENST00000321725	D	0.90676	-2.71	5.26	-4.27	0.03744	FAS1 domain (5);	1.779270	0.02662	N	0.107612	D	0.84665	0.5522	L	0.46819	1.47	0.18873	N	0.999983	B	0.19331	0.035	B	0.14578	0.011	T	0.66428	-0.5926	10	0.40728	T	0.16	.	2.8291	0.05494	0.3376:0.2451:0.3082:0.109	.	1654	Q9NY15	STAB1_HUMAN	W	1654	ENSP00000312946:R1654W	ENSP00000312946:R1654W	R	+	1	2	STAB1	52527851	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.453000	0.06778	-1.498000	0.01824	-0.830000	0.03078	CGG			0.701	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351380.2		NM_015136		T	52552811	C	T	52552811	3	4	83	1	0	0	0	0	1	0	0	0	15260	759	27	1	5150	1	STAB1	3	52552811	Missense_Mutation	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10		52552811	145469619	9	5852											
KIT	3815	broad.mit.edu	37	chr4	55593613	55593613	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagtacagtggaaggttgTtgaggagataaatggaaaca	16	9	14	2	0	0	3	0	2	0	1	0	6	0	5	0	4	2	3	0	4	6	4	rs121913521|rs121913511|rs121913510		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr4:55593613T>G	ENST00000288135.5	+	11	1776	c.1679T>G	c.(1678-1680)gTt>gGt	p.V560G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	560			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:9438854}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V560D(52)|p.W557_E561del(17)|p.V560del(16)|p.K558_E562del(10)|p.V560G(9)|p.V559_E561del(8)|p.V560E(6)|p.V559_V560del(6)|p.Q556_V560del(6)|p.K558_V560del(5)|p.V560_L576del(4)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.K558_V560>N(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V555_V560>V(1)|p.V559_E562del(1)|p.M552_T574>TESA(1)|p.K558_D572del(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.V555_Y570del(1)|p.Q556_V560>HNLQLY(1)|p.Q556_D572del(1)|p.Q556_E561del(1)|p.V559_P573>A(1)|p.K558_L576>NV(1)|p.Q556_E561>HH(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.K558_G565>R(1)|p.V560A(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.Q556_T574del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.K558_V560>M(1)|p.E554_E562del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAAGGTTGTTGAGGAGATA	0.388		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.V560G			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,carcinoma,-1,66	KIT	7396	66	212	Deletion - In frame(116)|Substitution - Missense(68)|Complex - deletion inframe(27)|Complex - insertion inframe(1)	soft_tissue(198)|haematopoietic_and_lymphoid_tissue(6)|skin(5)|testis(1)|genital_tract(1)|thymus(1)	c.T1679G	GRCh37	CD982724|CM077194	KIT	D|M	rs67104871							81	82	82					4																	55593613		2203	4300	6503	SO:0001583	missense	3815	exon11	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	AGGTTGTTGAGGA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1679T>G	4.37:g.55593613T>G	ENSP00000288135:p.Val560Gly		79	0	0		113	0.04	4	NM_000222	29	0.62	18	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506007	0.85282	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.94828	-3.53;-3.53	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000032	D	0.96793	0.8953	M	0.72118	2.19	0.80722	D	1	D;P;B	0.76494	0.999;0.818;0.42	D;P;P	0.68192	0.956;0.865;0.695	D	0.97231	0.9884	10	0.87932	D	0	.	16.6003	0.84812	0.0:0.0:0.0:1.0	.	67;556;560	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	G	560;556	ENSP00000288135:V560G;ENSP00000390987:V556G	ENSP00000288135:V560G	V	+	2	0	KIT	55288370	1.000000	0.71417	0.943000	0.38184	0.809000	0.45718	7.880000	0.87243	2.319000	0.78375	0.533000	0.62120	GTT			0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1	rescued with RNA-seq			G	55593613	T	G	55593613	3	3	83	1	0	0	0	0	1	0	0	0	8344	1725	60	4	1721	4	KIT	4	55593613	Missense_Mutation	SNP	T	TCGA-4K-AA1H-01A-11D-A435-10		55593613	135560663	10	5853											
ANK2	287	mdanderson.org	37	chr4	114263059	114263059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgctgaggtggccagaaGcagggatgtggaggtactgt	8	11	17	5	0	0	2	0	1	0	1	0	4	0	4	1	5	3	3	1	5	2	3			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr4:114263059G>T	ENST00000357077.4	+	33	4162	c.4109G>T	c.(4108-4110)aGc>aTc	p.S1370I	ANK2_ENST00000510275.2_Missense_Mutation_p.S22I|ANK2_ENST00000509550.1_Missense_Mutation_p.S546I|ANK2_ENST00000264366.6_Missense_Mutation_p.S1337I|ANK2_ENST00000394537.3_Missense_Mutation_p.S1370I|ANK2_ENST00000506722.1_Missense_Mutation_p.S1361I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1370	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)		GTGGCCAGAAGCAGGGATGTG	0.353																																					p.S1370I													.	.			0			c.G4109T												74	72	73					4																	114263059		2203	4300	6503	SO:0001583	missense	287	exon33			CCAGAAGCAGGGA	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.4109G>T	4.37:g.114263059G>T	ENSP00000349588:p.Ser1370Ile		39	0	0		40	0.08	3	NM_001148	18	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.877167|4.877167	0.91664|0.91664	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275	.|T;T;T;T;T;T;T;T	.|0.35048	.|1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.67739|0.67739	0.2925|0.2925	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999;0.999;1.0	.|D;D;D;D;D;D;D	.|0.91635	.|0.997;0.997;0.991;0.997;0.991;0.999;0.999	T|T	0.73316|0.73316	-0.4021|-0.4021	5|10	.|0.87932	.|D	.|0	.|.	19.4923|19.4923	0.95056|0.95056	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|546;1337;416;382;1370;1370;1361	.|E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;ANK2_HUMAN;.;.;.;.;.	N|I	382;64|1283;1361;416;1385;1370;1370;1337;1361;546;22	.|ENSP00000421011:S1283I;ENSP00000421067:S1361I;ENSP00000424722:S1385I;ENSP00000378044:S1370I;ENSP00000349588:S1370I;ENSP00000264366:S1337I;ENSP00000426944:S546I;ENSP00000421023:S22I	.|ENSP00000264366:S1337I	K|S	+|+	3|2	2|0	ANK2|ANK2	114482508|114482508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.607000|2.607000	0.88179|0.88179	0.650000|0.650000	0.86243|0.86243	AAG|AGC			0.353	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256422.2		NM_001148		T	114263059	G	T	114263059	3	4	83	1	0	0	0	0	1	0	0	0	621	971	34	2	4304	2	ANK2	4	114263059	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	58669446	114263059	76891217	11	5854											
IRX2	153572	mdanderson.org	37	chr5	2749899	2749899	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcgcgtcgtagggtgcGccctggaaccaacaagagcc	8	6	15	12	4	0	1	0	0	0	1	1	2	0	2	3	2	5	1	3	2	4	1	rs149245392	byFrequency	TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr5:2749899G>T	ENST00000382611.6	-	2	500	c.252C>A	c.(250-252)ggC>ggA	p.G84G	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.G84G	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	84					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)		CGTAGGGTGCGCCCTGGAACC	0.697													G|||	24	0.00479233	0.0174	0.0014	5008	,	,		12759	0		0	False		,,,				2504	0				p.G84G													.	.			0			c.C252A							G	,	52,4354	52.9+/-88.7	0,52,2151	43	49	47		252,252	1.1	1	5	dbSNP_134	47	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous,coding-synonymous	IRX2	NM_001134222.1,NM_033267.4	,	0,54,6448	TT,TG,GG		0.0233,1.1802,0.4153	,	84/472,84/472	2749899	54,12950	2203	4299	6502	SO:0001819	synonymous_variant	153572	exon2			GGGTGCGCCCTGG	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.252C>A	5.37:g.2749899G>T			18	0	0		23	0.13	3	NM_001134222	0		0	Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	CCDS3868.1																																																																																			0.004		0.697	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206749.2				T	2749899	G	T	2749899	2	4	83	1	0	0	0	0	0	0	0	1	7859	1074	38	1		1	IRX2	5	2749899	Silent	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		2749899	178165361	12	5855											
IL7R	3575	broad.mit.edu	37	chr5	35875632	35875632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggattaagcctatcgtatgGcccagtctccccgatcataa	11	10	8	12	2	2	0	1	0	1	0	4	2	2	1	4	2	1	1	4	2	4	4			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr5:35875632G>C	ENST00000303115.3	+	7	948	c.819G>C	c.(817-819)tgG>tgC	p.W273C	IL7R_ENST00000506850.1_Missense_Mutation_p.G242A|IL7R_ENST00000343305.4_Missense_Mutation_p.G242A	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	273					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)			CTATCGTATGGCCCAGTCTCC	0.433			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																														p.W273C				Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	.	IL7R	200		0			c.G819C												115	103	107					5																	35875632		2203	4300	6503	SO:0001583	missense	3575	exon7			CGTATGGCCCAGT	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.819G>C	5.37:g.35875632G>C	ENSP00000306157:p.Trp273Cys		77	0	0		133	0.07	9	NM_002185	223	0	0	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.10|18.10	3.547976|3.547976	0.65311|0.65311	.|.	.|.	ENSG00000168685|ENSG00000168685	ENST00000343305;ENST00000506850;ENST00000505093|ENST00000303115;ENST00000505875	T;T|T;T	0.43688|0.46819	0.94;0.94|1.31;0.86	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65729|0.65729	0.2719|0.2719	M|M	0.63843|0.63843	1.955|1.955	0.28726|0.28726	N|N	0.902748|0.902748	D|D	0.89917|0.89917	1.0|1.0	D|D	0.87578|0.75484	0.998|0.986	T|T	0.62144|0.62144	-0.6916|-0.6916	9|10	0.02654|0.48119	T|T	1|0.1	-5.7157|-5.7157	15.4923|15.4923	0.75619|0.75619	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	242|273	D6RGV2|P16871	.|IL7RA_HUMAN	A|C	242;242;45|273;39	ENSP00000345819:G242A;ENSP00000421207:G242A|ENSP00000306157:W273C;ENSP00000420923:W39C	ENSP00000345819:G242A|ENSP00000306157:W273C	G|W	+|+	2|3	0|0	IL7R|IL7R	35911389|35911389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.758000|0.758000	0.43043|0.43043	5.070000|5.070000	0.64376|0.64376	2.729000|2.729000	0.93468|0.93468	0.563000|0.563000	0.77884|0.77884	GGC|TGG			0.433	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207577.2				C	35875632	G	C	35875632	3	2	83	1	0	0	0	0	1	0	0	0	7720	1212	42	5	845	5	IL7R	5	35875632	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	33125733	35875632	145039628	13	5856											
NIPBL	25836	mdanderson.org	37	chr5	36986049	36986049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagatgacaaaaggacagagGgtaacaagagtaaagtagac	21	4	12	4	0	0	5	0	1	0	4	0	6	0	6	0	2	1	3	0	2	8	3			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr5:36986049G>T	ENST00000282516.8	+	10	3266	c.2767G>T	c.(2767-2769)Ggt>Tgt	p.G923C	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.G923C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	923					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)			AAGGACAGAGGGTAACAAGAG	0.378																																					p.G923C													.	.			0			c.G2767T												83	87	86					5																	36986049		2203	4300	6503	SO:0001583	missense	25836	exon10			ACAGAGGGTAACA	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.2767G>T	5.37:g.36986049G>T	ENSP00000282516:p.Gly923Cys		58	0	0		42	0.07	3	NM_015384	17	0	0	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580804	0.28180	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95238	-3.64;-3.65	5.99	3.29	0.37713	.	0.205916	0.43747	D	0.000539	D	0.89061	0.6608	N	0.19112	0.55	0.42313	D	0.992223	P;D	0.54964	0.855;0.969	B;B	0.43478	0.326;0.421	D	0.87274	0.2288	10	0.59425	D	0.04	.	11.1211	0.48291	0.2479:0.0:0.7521:0.0	.	923;923	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	C	923	ENSP00000282516:G923C;ENSP00000406266:G923C	ENSP00000282516:G923C	G	+	1	0	NIPBL	37021806	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.450000	0.44943	0.441000	0.26529	-0.794000	0.03295	GGT			0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207582.1		NM_015384		T	36986049	G	T	36986049	3	4	83	1	0	0	0	0	1	0	0	0	10445	1232	43	3	2801	3	NIPBL	5	36986049	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	1110417	36986049	143929211	14	5857											
SLC22A16	85413	mdanderson.org	37	chr6	110768107	110768107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaagcgagcagccatgaagGtgtaataatcaactgcaaac	18	6	9	8	1	1	1	1	1	0	0	1	2	1	1	1	1	6	3	1	1	7	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr6:110768107G>T	ENST00000368919.3	-	3	686	c.620C>A	c.(619-621)aCc>aAc	p.T207N	SLC22A16_ENST00000330550.4_Missense_Mutation_p.T173N|SLC22A16_ENST00000439654.1_Missense_Mutation_p.T207N|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	207					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)	AGCCATGAAGGTGTAATAATC	0.423																																					p.T207N													.	.			0			c.C620A												78	75	76					6																	110768107		2203	4300	6503	SO:0001583	missense	85413	exon3			ATGAAGGTGTAAT		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.620C>A	6.37:g.110768107G>T	ENSP00000357915:p.Thr207Asn		59	0	0		47	0.06	3	NM_033125	0		0	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505851	0.12822	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378;ENST00000424139	T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.14	2.29	0.28610	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.358804	0.32719	N	0.005723	T	0.51432	0.1674	L	0.53671	1.685	0.80722	D	1	B;B	0.30973	0.302;0.257	B;B	0.28385	0.089;0.053	T	0.50717	-0.8795	10	0.52906	T	0.07	.	9.6162	0.39692	0.2937:0.5691:0.1372:0.0	.	207;173	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	N	207;124;173;207;37;164;164	ENSP00000357915:T207N;ENSP00000395642:T124N;ENSP00000328583:T173N;ENSP00000408799:T207N;ENSP00000409306:T37N;ENSP00000416310:T164N;ENSP00000401007:T164N	ENSP00000328583:T173N	T	-	2	0	SLC22A16	110874800	1.000000	0.71417	0.996000	0.52242	0.093000	0.18481	0.997000	0.29731	0.154000	0.19237	-1.243000	0.01532	ACC			0.423	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043428.1		NM_033125		T	110768107	G	T	110768107	3	4	83	1	0	0	0	0	1	0	0	0	14470	1261	44	3	1137	3	SLC22A16	6	110768107	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		110768107	60346960	15	5858											
ARID1B	57492	broad.mit.edu;mdanderson.org	37	chr6	157100005	157100005	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggaggaggaggaggcagcgg	5	0	27	9	8	0	0	0	0	0	0	0	4	0	4	0	13	1	1	0	13	0	0	rs587779748|rs184815562		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr6:157100005C>A	ENST00000350026.5	+	1	943	c.942C>A	c.(940-942)ggC>ggA	p.G314G	RP11-230C9.2_ENST00000603191.1_lincRNA|ARID1B_ENST00000346085.5_Silent_p.G314G|RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000275248.4_Silent_p.G256G|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000367148.1_Silent_p.G314G	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	314	Gly-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)		gcggcggcggcggaggaggag	0.756																																					p.G314G													.	ARID1B	320		0			c.C942A												1	1	1					6																	157100005		538	1345	1883	SO:0001819	synonymous_variant	57492	exon1			CGGCGGCGGAGGA	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.942C>A	6.37:g.157100005C>A			36	0	0		45	0.13	6	NM_017519	0		0	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																					0.756	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000372723.1		NM_020732		A	157100005	C	A	157100005	2	1	83	1	0	0	0	0	0	0	0	1	914	755	27	1		1	ARID1B	6	157100005	Silent	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10	46331898	157100005	14015062	16	5859											
ARPC1B	10095	mdanderson.org	37	chr7	98988687	98988687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggtaagccacgacagCaccgtctgcctggctgatgc	7	7	13	14	2	1	1	0	1	1	0	1	2	1	1	4	2	4	3	4	2	1	1			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr7:98988687C>A	ENST00000451682.1	+	8	981	c.672C>A	c.(670-672)agC>agA	p.S224R	ARPC1B_ENST00000252725.5_Missense_Mutation_p.S224R|PDAP1_ENST00000496335.1_5'Flank			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	224					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCACGACAGCACCGTCTGCC	0.622																																					p.S224R													.	.			0			c.C672A												46	39	42					7																	98988687		2203	4300	6503	SO:0001583	missense	10095	exon6			CGACAGCACCGTC	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	704	protein-coding gene	gene with protein product	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	604223	"actin related protein 2/3 complex, subunit 1B (41 kD)"			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.672C>A	7.37:g.98988687C>A	ENSP00000389631:p.Ser224Arg		28	0	0		41	0.07	3	NM_005720	1230	0	0	Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404358	0.83230	.	.	ENSG00000130429	ENST00000252725;ENST00000451682	T;T	0.66280	-0.2;-0.2	5.59	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.079603	0.85682	D	0.000000	T	0.78953	0.4365	M	0.89414	3.03	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.62649	0.905;0.905	T	0.80783	-0.1228	10	0.54805	T	0.06	-55.7939	11.8992	0.52673	0.0:0.8572:0.0:0.1428	.	224;224	A4D275;O15143	.;ARC1B_HUMAN	R	224	ENSP00000252725:S224R;ENSP00000389631:S224R	ENSP00000252725:S224R	S	+	3	2	ARPC1B	98826623	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.137000	0.42130	0.733000	0.32492	0.561000	0.74099	AGC			0.622	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335894.1		NM_005720		A	98988687	C	A	98988687	3	1	83	1	0	0	0	0	1	0	0	0	970	709	25	2	690	2	ARPC1B	7	98988687	Missense_Mutation	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10		98988687	60149976	17	5860											
ZNF786	136051	mdanderson.org	37	chr7	148769129	148769129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccggcggaagctcttaccGcacacgccacaccggaagtg	9	6	11	15	5	1	0	0	0	1	0	2	2	2	2	4	3	2	2	4	3	3	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr7:148769129G>A	ENST00000491431.1	-	4	799	c.735C>T	c.(733-735)tgC>tgT	p.C245C	ZNF786_ENST00000451334.3_Silent_p.C208C|ZNF786_ENST00000316286.9_Silent_p.C159C	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	245					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)			AGCTCTTACCGCACACGCCAC	0.647																																					p.C245C													.	.			0			c.C735T												26	33	31					7																	148769129		2141	4245	6386	SO:0001819	synonymous_variant	136051	exon4			CTTACCGCACACG	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.735C>T	7.37:g.148769129G>A			46	0	0		44	0.07	3	NM_152411	3	0	0	A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	CCDS47738.1																																																																																					0.647	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352751.1		NM_152411		A	148769129	G	A	148769129	2	1	83	1	0	0	0	0	0	0	0	1	18181	1079	38	1		1	ZNF786	7	148769129	Silent	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	49780442	148769129	10369534	18	5861											
REPIN1	29803	mdanderson.org	37	chr7	150069137	150069137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccagtgccccgagtgCgggaagcgctttaccaataa	10	6	10	15	3	0	0	0	0	0	0	0	2	0	1	6	1	4	1	6	1	4	3			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr7:150069137C>T	ENST00000425389.2	+	1	885	c.807C>T	c.(805-807)tgC>tgT	p.C269C	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Silent_p.C326C|REPIN1_ENST00000397281.2_Silent_p.C269C|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Silent_p.C269C|REPIN1_ENST00000540729.1_Silent_p.C269C	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	269					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCCCCGAGTGCGGGAAGCGCT	0.662																																					p.C326C													.	.			0			c.C978T												20	24	23					7																	150069137		2129	4259	6388	SO:0001819	synonymous_variant	29803	exon3			CGAGTGCGGGAAG	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.807C>T	7.37:g.150069137C>T			28	0	0		38	0.08	3	NM_001099695	49	0	0	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	CCDS43677.1																																																																																					0.662	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000376940.1		NM_014374		T	150069137	C	T	150069137	2	4	83	1	0	0	0	0	0	0	0	1	13250	776	27	1		1	REPIN1	7	150069137	Silent	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10	1300008	150069137	9069526	19	5862											
SGK223	157285	mdanderson.org	37	chr8	8176578	8176578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggctggccgccgagtcccGcacgaagtcggaggcggtct	5	6	17	13	6	1	0	0	0	1	0	3	3	2	1	3	5	0	2	3	5	1	0	rs200725218		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr8:8176578G>A	ENST00000520004.1	-	6	3571	c.3307C>T	c.(3307-3309)Cgg>Tgg	p.R1103W	SGK223_ENST00000330777.4_Missense_Mutation_p.R1103W			Q86YV5	SG223_HUMAN		1105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCCGAGTCCCGCACGAAGTCG	0.687													G|||	1	0.000199681	0	0	5008	,	,		9898	0		0.001	False		,,,				2504	0				p.R1103W	GBM(34;731 755 10259 33573 33867)												.	.			0			c.C3307T							G	TRP/ARG	0,4178		0,0,2089	56	65	62		3307	5.5	1	8		62	3,8389		0,3,4193	yes	missense	SGK223	NM_001080826.1	101	0,3,6282	AA,AG,GG		0.0357,0.0,0.0239	probably-damaging	1103/1403	8176578	3,12567	2089	4196	6285	SO:0001583	missense	0	exon5			AGTCCCGCACGAA																												ENST00000520004.1:c.3307C>T	8.37:g.8176578G>A	ENSP00000428054:p.Arg1103Trp		27	0	0		36	0.08	3	NM_001080826	31	0	0	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	4	0.0018315018315018315	0	0.0	0	0.0	2	0.0034965034965034965	2	0.002638522427440633	G	20.5	3.999393	0.74818	0.0	3.57E-4	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.59906	0.23;0.23	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.193534	0.45361	D	0.000361	T	0.72676	0.3490	M	0.73598	2.24	0.46437	D	0.999049	D	0.89917	1.0	D	0.73380	0.98	T	0.75107	-0.3434	10	0.87932	D	0	.	9.8569	0.41090	0.0:0.1392:0.6979:0.1629	.	1103	Q86YV5	SG223_HUMAN	W	1103	ENSP00000330930:R1103W;ENSP00000428054:R1103W	ENSP00000330930:R1103W	R	-	1	2	AC068353.1	8213988	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	0.966000	0.29331	2.750000	0.94351	0.467000	0.42956	CGG	0.002		0.687	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374864.1				A	8176578	G	A	8176578	3	1	83	1	0	0	0	0	1	0	0	0	14233	1086	38	1	905	1	SGK223	8	8176578	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		8176578	138187444	20	5863											
PLEC	5339	mdanderson.org	37	chr8	144992667	144992667	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatggtctgctcggtgtaGgggtcacggtagccggtgac	6	9	18	8	3	2	2	1	1	1	1	3	3	2	2	1	6	2	3	1	6	2	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr8:144992667G>T	ENST00000322810.4	-	32	11902	c.11733C>A	c.(11731-11733)ccC>ccA	p.P3911P	PLEC_ENST00000398774.2_Silent_p.P3742P|PLEC_ENST00000527096.1_Silent_p.P3797P|PLEC_ENST00000436759.2_Silent_p.P3801P|PLEC_ENST00000345136.3_Silent_p.P3774P|PLEC_ENST00000354958.2_Silent_p.P3752P|PLEC_ENST00000357649.2_Silent_p.P3778P|PLEC_ENST00000354589.3_Silent_p.P3774P|PLEC_ENST00000356346.3_Silent_p.P3760P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3911	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						GCTCGGTGTAGGGGTCACGGT	0.682																																					p.P3911P													.	.			0			c.C11733A												8	11	10					8																	144992667		2036	4159	6195	SO:0001819	synonymous_variant	5339	exon32			GGTGTAGGGGTCA	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.11733C>A	8.37:g.144992667G>T			28	0	0		35	0.09	3	NM_201380	110	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																					0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		T	144992667	G	T	144992667	2	4	83	1	0	0	0	0	0	0	0	1	12069	987	35	3		3	PLEC	8	144992667	Silent	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	136816089	144992667	1371355	21	5864											
HEATR7A	727957	mdanderson.org	37	chr8	145267992	145267992	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgctccgcagcctgctGatctaacggccgcgcccgcg	4	7	13	17	6	1	1	0	1	1	0	2	1	2	1	4	1	5	4	4	1	1	1			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr8:145267992G>T	ENST00000528919.1	+	12	1262				MROH1_ENST00000527071.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000423230.2_Missense_Mutation_p.D413Y|MROH1_ENST00000534366.1_Intron|MROH1_ENST00000326134.5_Intron	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1																		GCAGCCTGCTGATCTAACGGC	0.577																																					p.D413Y													.	.			0			c.G1237T												92	104	100					8																	145267992		2137	4237	6374	SO:0001627	intron_variant	727957	exon13			CCTGCTGATCTAA		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1142-7511G>T	8.37:g.145267992G>T			38	0	0		41	0.07	3	NM_001099280	14	0	0	C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	G	2.321	-0.355593	0.05138	.	.	ENSG00000179832	ENST00000423230	T	0.17370	2.28	0.818	0.818	0.18778	.	.	.	.	.	T	0.14570	0.0352	.	.	.	0.09310	N	1	D	0.58268	0.982	P	0.44422	0.449	T	0.17107	-1.0380	8	0.56958	D	0.05	.	4.9456	0.13987	0.0:0.0:1.0:0.0	.	413	Q8NDA8-4	.	Y	413	ENSP00000388174:D413Y	ENSP00000388174:D413Y	D	+	1	0	HEATR7A	145339980	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.802000	0.04545	0.714000	0.32081	0.460000	0.39030	GAT			0.577	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386183.1		NM_032450		T	145267992	G	T	145267992	1	4	83	0	1	0	0	0	0	0	0	0	7049	1290	45	3		3	HEATR7A	8	145267992	Intron	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	275325	145267992	1096030	22	5865											
CPSF1	29894	mdanderson.org	37	chr8	145622455	145622455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctggcggctgcccagCgccaccagcagcacctcctt	5	7	10	19	2	1	0	0	0	1	0	2	0	2	0	5	2	5	4	5	2	0	1	rs113296524	byFrequency	TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr8:145622455C>T	ENST00000349769.3	-	23	2653	c.2559G>A	c.(2557-2559)gcG>gcA	p.A853A	CPSF1_ENST00000531727.1_5'Flank	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	853					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCTGCCCAGCGCCACCAGCA	0.716													c|||	30	0.00599042	0.0219	0.0014	5008	,	,		10359	0		0	False		,,,				2504	0				p.A853A	NSCLC(133;1088 1848 27708 34777 35269)												.	.			0			c.G2559A							C		63,4009		0,63,1973	4	5	5		2559	-10.1	0	8	dbSNP_132	5	2,8004		0,2,4001	no	coding-synonymous	CPSF1	NM_013291.2		0,65,5974	TT,TC,CC		0.025,1.5472,0.5382		853/1444	145622455	65,12013	2036	4003	6039	SO:0001819	synonymous_variant	29894	exon23			GCCCAGCGCCACC	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2559G>A	8.37:g.145622455C>T			21	0	0		13	0.15	2	NM_013291	46	0	0	Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																			0.009		0.716	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291		T	145622455	C	T	145622455	2	4	83	1	0	0	0	0	0	0	0	1	3826	755	27	1		1	CPSF1	8	145622455	Silent	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10	354463	145622455	741567	23	5866											
OR51B4	79339	hgsc.bcm.edu	37	chr11	5322649	5322649	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgacatcttgatggagGcaaaatgtgtgcaagagggc	12	11	13	5	0	1	3	0	2	1	1	1	4	1	4	0	3	1	2	0	3	4	3	rs377539411		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:5322649G>A	ENST00000380224.1	-	1	577	c.528C>T	c.(526-528)tgC>tgT	p.C176C	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	176					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(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGATGGAGGCAAAATGTGT	0.403																																					p.C176C													.	.			0			c.C528T							G		1,4401	2.1+/-5.4	0,1,2200	110	100	103		528	1.6	1	11		103	0,8594		0,0,4297	no	coding-synonymous	OR51B4	NM_033179.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		176/311	5322649	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	79339	exon1			ATGGAGGCAAAAT	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.528C>T	11.37:g.5322649G>A			105	0	0		94	0.04	4	NM_033179	0		0	A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	CCDS7757.1																																																																																					0.403	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142956.2		NM_033179		A	5322649	G	A	5322649	2	1	83	1	0	0	0	0	0	0	0	1	11107	1195	42	2		2	OR51B4	11	5322649	Silent	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		5322649	129683867	24	5867											
OR5M3	219482	ucsc.edu	37	chr11	56237578	56237578	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacaacccttgacattttActgccataaagcagaggatt	14	10	7	10	0	0	3	0	1	0	2	0	4	0	4	2	1	4	1	2	1	4	5	rs61902881		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:56237578A>G	ENST00000312240.2	-	1	436	c.396T>C	c.(394-396)agT>agC	p.S132S		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	132						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)					TTGACATTTTACTGCCATAAA	0.403																																					p.S132S													.	OR5M3	103		0			c.T396C							A		1,4401		0,1,2200	95	89	91		396	-1.1	0	11	dbSNP_129	91	18,8548		0,18,4265	no	coding-synonymous	OR5M3	NM_001004742.2		0,19,6465	GG,GA,AA		0.2101,0.0227,0.1465		132/308	56237578	19,12949	2201	4283	6484	SO:0001819	synonymous_variant	219482	exon1			CATTTTACTGCCA	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.396T>C	11.37:g.56237578A>G			57	0.0350877193	2		44	0.14	6	NM_001004742	0		0	B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	CCDS31532.1																																																																																					0.403	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391639.1		NM_001004742		G	56237578	A	G	56237578	2	3	83	1	0	0	0	0	0	0	0	1	11192	388	14	4		4	OR5M3	11	56237578	Silent	SNP	A	TCGA-4K-AA1H-01A-11D-A435-10	50914929	56237578	78768938	25	5868											
WDR74	54663	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	62601760	62601760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcaccttgccgaaggtCaatttctgccagctgcccat	8	10	7	16	1	3	0	2	0	1	0	3	1	3	0	5	1	4	1	5	1	2	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:62601760C>A	ENST00000525239.1	-	9	1300	c.763G>T	c.(763-765)Gac>Tac	p.D255Y	WDR74_ENST00000525752.1_Missense_Mutation_p.D198Y|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000278856.4_Missense_Mutation_p.D255Y|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000529106.1_Missense_Mutation_p.D255Y|RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000540620.1_5'Flank|WDR74_ENST00000311713.7_Missense_Mutation_p.D255Y|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000377897.4_5'Flank|STX5_ENST00000541317.1_5'Flank			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	255					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TGCCGAAGGTCAATTTCTGCC	0.557																																					p.D255Y													.	WDR74	36		0			c.G763T												143	144	144					11																	62601760		1979	4167	6146	SO:0001583	missense	54663	exon9			GAAGGTCAATTTC		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.763G>T	11.37:g.62601760C>A	ENSP00000432119:p.Asp255Tyr		105	0	0		107	0.07	7	NM_018093	190	0.23	44	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898462	0.33535	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.26	2.37	0.29283	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051528	0.85682	D	0.000000	T	0.62901	0.2466	M	0.89601	3.045	0.47862	D	0.99953	D;D;D	0.71674	0.997;0.998;0.998	P;P;D	0.65773	0.903;0.903;0.938	T	0.62539	-0.6833	10	0.87932	D	0	-12.0281	5.7034	0.17895	0.0:0.693:0.1991:0.1079	.	198;255;255	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	Y	255;255;255;255;198	ENSP00000308931:D255Y;ENSP00000435726:D255Y;ENSP00000432119:D255Y;ENSP00000278856:D255Y;ENSP00000432113:D198Y	ENSP00000278856:D255Y	D	-	1	0	WDR74	62358336	1.000000	0.71417	0.998000	0.56505	0.186000	0.23388	3.594000	0.54008	0.427000	0.26145	-0.136000	0.14681	GAC			0.557	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395678.1		NM_018093		A	62601760	C	A	62601760	3	1	83	1	0	0	0	0	1	0	0	0	17348	826	29	3	410	3	WDR74	11	62601760	Missense_Mutation	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10	6364182	62601760	72404756	26	5869											
RELA	5970	mdanderson.org	37	chr11	65425788	65425788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggtactggaattccatggGctcactgagctcccggtcgg	7	9	13	12	2	1	1	1	1	0	0	4	2	3	2	2	5	2	3	2	5	2	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:65425788G>T	ENST00000406246.3	-	8	1108	c.847C>A	c.(847-849)Ccc>Acc	p.P283T	RELA_ENST00000525693.1_Missense_Mutation_p.P283T|RELA_ENST00000308639.9_Missense_Mutation_p.P280T	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	283	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|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 inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|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 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 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)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						AATTCCATGGGCTCACTGAGC	0.632																																					p.P283T													.	.			0			c.C847A												31	29	30					11																	65425788		2201	4297	6498	SO:0001583	missense	5970	exon8			CCATGGGCTCACT	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.847C>A	11.37:g.65425788G>T	ENSP00000384273:p.Pro283Thr		64	0	0		39	0.08	3	NM_001243985	146	0	0	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283346	0.59867	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.11	5.11	0.69529	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059445	0.64402	D	0.000002	T	0.78991	0.4371	M	0.88906	2.99	0.49915	D	0.999836	D;D;D;D;D;D	0.71674	0.998;0.991;0.991;0.985;0.998;0.998	D;P;P;P;P;D	0.67725	0.953;0.887;0.851;0.775;0.867;0.931	D	0.83641	0.0150	10	0.87932	D	0	-20.3056	16.043	0.80698	0.0:0.0:1.0:0.0	.	273;270;280;283;294;283	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	T	283;283;280;294;294	ENSP00000384273:P283T;ENSP00000432537:P283T;ENSP00000311508:P280T;ENSP00000433526:P294T	ENSP00000311508:P280T	P	-	1	0	RELA	65182364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.275000	0.65575	2.397000	0.81536	0.555000	0.69702	CCC			0.632	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390457.2		NM_021975		T	65425788	G	T	65425788	3	4	83	1	0	0	0	0	1	0	0	0	13239	1203	42	2	824	2	RELA	11	65425788	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	2824028	65425788	69580728	27	5870											
UVRAG	7405	broad.mit.edu	37	chr11	75852423	75852423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaatgaaaacgtatccaGcttccgccggccgcgcagga	11	6	11	13	5	0	2	0	2	0	0	2	3	2	3	4	2	2	3	4	2	4	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:75852423G>T	ENST00000356136.3	+	15	2307	c.2066G>T	c.(2065-2067)aGc>aTc	p.S689I	UVRAG_ENST00000528420.1_Missense_Mutation_p.S588I|UVRAG_ENST00000533454.1_Missense_Mutation_p.S317I|UVRAG_ENST00000532130.1_Missense_Mutation_p.S317I|UVRAG_ENST00000538870.1_Missense_Mutation_p.S245I|UVRAG_ENST00000531818.1_Missense_Mutation_p.S317I|UVRAG_ENST00000539288.1_Missense_Mutation_p.S317I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	689					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AACGTATCCAGCTTCCGCCGG	0.507																																					p.S689I													.	UVRAG	69		0			c.G2066T												59	61	60					11																	75852423		2200	4292	6492	SO:0001583	missense	7405	exon15			TATCCAGCTTCCG	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.2066G>T	11.37:g.75852423G>T	ENSP00000348455:p.Ser689Ile		24	0	0		48	0.06	3	NM_003369	58	0	0	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698561	0.68386	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.60171	0.21	5.99	5.08	0.68730	.	0.037249	0.85682	D	0.000000	T	0.63803	0.2542	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.59767	0.985;0.986	P;P	0.57009	0.811;0.669	T	0.68239	-0.5461	10	0.87932	D	0	-14.9028	16.5147	0.84296	0.0:0.1304:0.8696:0.0	.	245;689	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	I	689;588;317;317;317;317;245	ENSP00000348455:S689I	ENSP00000348455:S689I	S	+	2	0	UVRAG	75530071	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	6.303000	0.72794	1.532000	0.49169	0.655000	0.94253	AGC			0.507	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383430.1		NM_003369		T	75852423	G	T	75852423	3	4	83	1	0	0	0	0	1	0	0	0	17132	971	34	2	2124	2	UVRAG	11	75852423	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	10426635	75852423	59154093	28	5871											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr12:25398285C>T	ENST00000256078.4	-	2	97	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000311936.3_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12S	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,NS,adenocarcinoma,+1,25136	KRAS_ENST00000256078	1	25136	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	c.G34A	GRCh37	CM076251	KRAS	M	rs121913530							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	exon2	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	CGCCACCAGCTCC	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.34G>A	12.37:g.25398285C>T	ENSP00000256078:p.Gly12Ser		143	0	0		188	0.12	23	NM_004985	25	0.12	3	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441396	0.96187	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.28344	0.845	0.80722	D	1	P;P	0.39665	0.557;0.682	P;P	0.50570	0.525;0.644	T	0.80254	-0.1459	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	S	12	ENSP00000308495:G12S;ENSP00000452512:G12S;ENSP00000256078:G12S;ENSP00000451856:G12S	ENSP00000256078:G12S	G	-	1	0	KRAS	25289552	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		T	25398285	C	T	25398285	3	4	83	1	0	0	0	0	1	0	0	0	8453	594	21	3	672	3	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10		25398285	108453610	29	5872											
LTA4H	4048	hgsc.bcm.edu	37	chr12	96400148	96400148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagaagagagatccttcaGgtctgtggcattgaatgaat	13	11	12	5	0	2	5	1	3	1	3	3	7	3	5	1	2	0	1	1	2	3	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr12:96400148G>T	ENST00000228740.2	-	16	1615	c.1474C>A	c.(1474-1476)Ctg>Atg	p.L492M	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000413268.2_Missense_Mutation_p.L468M|LTA4H_ENST00000552789.1_Missense_Mutation_p.L468M	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	492					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	AGATCCTTCAGGTCTGTGGCA	0.323																																					p.L492M													.	.			0			c.C1474A												102	101	101					12																	96400148		2203	4300	6503	SO:0001583	missense	4048	exon16			CCTTCAGGTCTGT	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1474C>A	12.37:g.96400148G>T	ENSP00000228740:p.Leu492Met		45	0	0		87	0.05	4	NM_000895	247	0	0	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370729	0.61624	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.48522	0.81;0.81;0.81	5.74	2.8	0.32819	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.221017	0.38548	N	0.001648	T	0.44644	0.1303	L	0.43152	1.355	0.40186	D	0.977354	B;P;P	0.37233	0.393;0.588;0.461	B;P;B	0.46049	0.127;0.502;0.259	T	0.46555	-0.9183	10	0.59425	D	0.04	-10.4144	7.1827	0.25782	0.1517:0.0:0.7086:0.1397	.	468;468;492	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	M	492;468;468	ENSP00000228740:L492M;ENSP00000449958:L468M;ENSP00000395051:L468M	ENSP00000228740:L492M	L	-	1	2	LTA4H	94924279	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.821000	0.27338	1.437000	0.47472	0.561000	0.74099	CTG			0.323	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408655.1		NM_000895		T	96400148	G	T	96400148	3	4	83	1	0	0	0	0	1	0	0	0	9085	991	35	3	377	3	LTA4H	12	96400148	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	71001863	96400148	37451747	30	5873											
SMAD9	4093	mdanderson.org	37	chr13	37453517	37453517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcttcagctcgtggtGggactgcagatccggccagc	6	7	15	13	3	1	1	1	0	0	1	3	2	2	2	2	4	4	3	2	4	0	1			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr13:37453517G>T	ENST00000399275.2	-	1	449	c.310C>A	c.(310-312)Cac>Aac	p.H104N	SMAD9_ENST00000379826.4_Missense_Mutation_p.H104N|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000350148.5_Missense_Mutation_p.H104N			O15198	SMAD9_HUMAN	SMAD family member 9	104	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)			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)		AGCTCGTGGTGGGACTGCAGA	0.622																																					p.H104N													.	.			0			c.C310A												32	35	34					13																	37453517		2203	4300	6503	SO:0001583	missense	4093	exon2			CGTGGTGGGACTG		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.310C>A	13.37:g.37453517G>T	ENSP00000382216:p.His104Asn		36	0	0		41	0.07	3	NM_005905	3	0	0	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945030	0.73672	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.71461	-0.57;-0.57;-0.57	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	M	0.91561	3.22	0.80722	D	1	B;B	0.30563	0.008;0.285	B;B	0.37451	0.114;0.25	T	0.83210	-0.0074	10	0.87932	D	0	.	18.4517	0.90705	0.0:0.0:1.0:0.0	.	104;104	O15198-2;O15198	.;SMAD9_HUMAN	N	104	ENSP00000382216:H104N;ENSP00000239885:H104N;ENSP00000369154:H104N	ENSP00000239885:H104N	H	-	1	0	SMAD9	36351517	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.796000	0.99103	2.599000	0.87857	0.563000	0.77884	CAC			0.622	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000044525.2		NM_005905		T	37453517	G	T	37453517	3	4	83	1	0	0	0	0	1	0	0	0	14787	1348	47	3	1117	3	SMAD9	13	37453517	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		37453517	77716361	31	5874											
SLTM	79811	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	59192108	59192108	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagaggtttagatacttcTtgtgtaccatcaccagaacc	12	11	9	9	0	2	3	1	0	1	3	2	4	2	4	3	2	3	2	3	2	5	6			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr15:59192108T>C	ENST00000380516.2	-	7	705	c.618A>G	c.(616-618)caA>caG	p.Q206Q	SLTM_ENST00000536328.1_Intron|SLTM_ENST00000557950.1_5'Flank	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	206	Glu-rich.				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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TAGATACTTCTTGTGTACCAT	0.393																																					p.Q206Q													.	.			0			c.A618G												86	80	82					15																	59192108		2192	4292	6484	SO:0001819	synonymous_variant	79811	exon7			TACTTCTTGTGTA	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.618A>G	15.37:g.59192108T>C			52	0	0		78	0.08	6	NM_024755	41	0.02	1	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	CCDS10168.2																																																																																					0.393	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157124.1		NM_024755		C	59192108	T	C	59192108	2	2	83	1	0	0	0	0	0	0	0	1	14777	1606	56	4		4	SLTM	15	59192108	Silent	SNP	T	TCGA-4K-AA1H-01A-11D-A435-10		59192108	43339284	32	5875											
HCN4	10021	mdanderson.org	37	chr15	73660493	73660493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcggctggggtcttggCggcccccggccccctcctcc	0	8	13	20	3	1	0	0	0	1	0	4	0	4	0	7	6	1	1	7	6	0	1			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr15:73660493C>T	ENST00000261917.3	-	1	1112	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	40					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGGTCTTGGCGGCCCCCGGC	0.751																																					p.R40H													.	.			0			c.G119A												2	3	3					15																	73660493		1563	3391	4954	SO:0001583	missense	10021	exon1			TCTTGGCGGCCCC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.119G>A	15.37:g.73660493C>T	ENSP00000261917:p.Arg40His		22	0	0		37	0.08	3	NM_005477	1	0	0	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161596	0.38119	.	.	ENSG00000138622	ENST00000261917	D	0.97378	-4.36	2.98	2.01	0.26516	.	.	.	.	.	D	0.89543	0.6745	N	0.14661	0.345	0.25772	N	0.98483	D	0.60160	0.987	B	0.35413	0.202	T	0.83341	-0.0008	9	0.27082	T	0.32	.	7.8835	0.29635	0.246:0.754:0.0:0.0	.	40	Q9Y3Q4	HCN4_HUMAN	H	40	ENSP00000261917:R40H	ENSP00000261917:R40H	R	-	2	0	HCN4	71447546	0.988000	0.35896	0.800000	0.32199	0.706000	0.40770	0.326000	0.19646	0.497000	0.27926	0.298000	0.19748	CGC			0.751	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268900.2		NM_005477		T	73660493	C	T	73660493	3	4	83	1	0	0	0	0	1	0	0	0	7014	768	27	1	3524	1	HCN4	15	73660493	Missense_Mutation	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10	14468385	73660493	28870899	33	5876											
SLCO3A1	28232	hgsc.bcm.edu	37	chr15	92694221	92694221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttacgctttgggagttcTttttctcctccttcgtttgt	2	21	8	10	2	3	0	0	0	3	0	6	1	4	1	2	1	1	3	2	1	1	7			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr15:92694221T>C	ENST00000318445.6	+	9	1944	c.1730T>C	c.(1729-1731)cTt>cCt	p.L577P	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.L577P	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	577					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)	TTGGGAGTTCTTTTTCTCCTC	0.363																																					p.L577P													.	.			0			c.T1730C												230	212	218					15																	92694221		2198	4298	6496	SO:0001583	missense	28232	exon9			GAGTTCTTTTTCT	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.1730T>C	15.37:g.92694221T>C	ENSP00000320634:p.Leu577Pro		45	0	0		92	0.04	4	NM_013272	42	0.02	1	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375251	0.82682	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	D;D	0.81908	-1.55;-1.55	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.062767	0.64402	D	0.000007	D	0.90031	0.6887	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.91635	0.935;0.999;0.968	D	0.89966	0.4090	10	0.48119	T	0.1	.	16.1506	0.81618	0.0:0.0:0.0:1.0	.	519;577;577	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	P	577;577;296	ENSP00000320634:L577P;ENSP00000387846:L577P	ENSP00000320634:L577P	L	+	2	0	SLCO3A1	90495225	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	7.088000	0.76901	2.206000	0.71126	0.528000	0.53228	CTT			0.363	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313529.1		NM_013272		C	92694221	T	C	92694221	3	2	83	1	0	0	0	0	1	0	0	0	14751	1609	56	4	1764	4	SLCO3A1	15	92694221	Missense_Mutation	SNP	T	TCGA-4K-AA1H-01A-11D-A435-10	19033728	92694221	9837171	34	5877											
FLYWCH1	84256	mdanderson.org	37	chr16	2987340	2987340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcggcctggaggccctgCggcagcgggagcacttcccc	4	5	17	15	3	0	0	0	0	0	0	1	2	1	2	4	6	3	2	4	6	0	1	rs370316946		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr16:2987340C>T	ENST00000253928.9	+	7	2137	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.R627W|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.R577W|FLYWCH1_ENST00000570752.1_3'UTR|LA16c-321D4.2_ENST00000573260.1_RNA			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	578						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGAGGCCCTGCGGCAGCGGGA	0.736																																					p.R577W													.	.			0			c.C1729T							C	TRP/ARG,TRP/ARG	0,3834		0,0,1917	9	11	10		1729,1729	0	1	16		10	2,8116		0,2,4057	no	missense,missense	FLYWCH1	NM_020912.1,NM_032296.2	101,101	0,2,5974	TT,TC,CC		0.0246,0.0,0.0167	probably-damaging,probably-damaging	577/704,577/716	2987340	2,11950	1917	4059	5976	SO:0001583	missense	84256	exon7			GCCCTGCGGCAGC	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1732C>T	16.37:g.2987340C>T	ENSP00000253928:p.Arg578Trp		17	0	0		13	0.15	2	NM_020912	22	0	0	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37		.	.	.	.	.	.	.	.	.	.	C	14.27	2.486505	0.44249	0.0	2.46E-4	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288;ENST00000344592	.	.	.	3.25	-0.0387	0.13878	.	.	.	.	.	T	0.57562	0.2062	L	0.47190	1.495	0.29272	N	0.870629	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.97110	0.814;0.877;1.0	T	0.54384	-0.8302	8	0.87932	D	0	.	9.4346	0.38630	0.4256:0.5744:0.0:0.0	.	627;578;577	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	W	627;578;577;190	.	ENSP00000253928:R578W	R	+	1	2	FLYWCH1	2927341	0.993000	0.37304	0.997000	0.53966	0.433000	0.31745	0.072000	0.14617	0.015000	0.14971	-0.309000	0.09137	CGG			0.736	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000436479.1		NM_032296		T	2987340	C	T	2987340	3	4	83	1	0	0	0	0	1	0	0	0	5960	759	27	1	1747	1	FLYWCH1	16	2987340	Missense_Mutation	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10		2987340	87367413	35	5878											
IL34	146433	mdanderson.org	37	chr16	70690989	70690989	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagtacctgcaggaggtgGagacgctgctgctgaatgtc	9	8	16	8	1	0	2	0	1	0	1	1	5	0	4	1	4	4	5	1	4	3	1	rs8046424	byFrequency	TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr16:70690989G>T	ENST00000288098.2	+	4	750	c.367G>T	c.(367-369)Gag>Tag	p.E123*	IL34_ENST00000429149.2_Nonsense_Mutation_p.E123*|IL34_ENST00000566361.1_Nonsense_Mutation_p.E98*	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	123			E -> Q (in dbSNP:rs8046424). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:18467591}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GCAGGAGGTGGAGACGCTGCT	0.607																																					p.E123X													.	.			0			c.G367T												115	84	94					16																	70690989		2198	4300	6498	SO:0001587	stop_gained	146433	exon5			GAGGTGGAGACGC	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.367G>T	16.37:g.70690989G>T	ENSP00000288098:p.Glu123*		57	0	0		56	0.05	3	NM_001172772	45	0	0	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Nonsense_Mutation	SNP	ENST00000288098.2	37	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034638	0.75617	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	.	.	.	5.18	3.04	0.35103	.	0.691102	0.13631	N	0.373759	.	.	.	.	.	.	0.09310	P	0.9999999999999347	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.8047	2.4406	0.04493	0.1665:0.5233:0.1616:0.1486	.	.	.	.	X	123	.	ENSP00000288098:E123X	E	+	1	0	IL34	69248490	0.020000	0.18652	0.115000	0.21578	0.440000	0.31957	1.221000	0.32503	1.197000	0.43143	-0.322000	0.08575	GAG			0.607	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268971.3		NM_152456		T	70690989	G	T	70690989	4	4	83	1	0	0	0	0	0	1	0	0	7709	1175	41	3	381	3	IL34	16	70690989	Nonsense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	67703649	70690989	19663764	36	5879											
RARA	5914	broad.mit.edu	37	chr17	38510615	38510615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaccttctcggacgggcTgaccctgaaccggacccaga	9	6	11	15	3	1	4	0	3	1	1	2	6	1	6	4	3	1	1	4	3	1	1			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr17:38510615T>C	ENST00000254066.5	+	7	1324	c.869T>C	c.(868-870)cTg>cCg	p.L290P	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394086.3_Missense_Mutation_p.L306P|RARA_ENST00000425707.3_Missense_Mutation_p.L193P|RARA_ENST00000394089.2_Missense_Mutation_p.L290P|RARA_ENST00000394081.3_Missense_Mutation_p.L285P	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	290	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)	TCGGACGGGCTGACCCTGAAC	0.632			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																p.L290P				Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	.	RARA	52		0			c.T869C												123	97	106					17																	38510615		2203	4300	6503	SO:0001583	missense	0	exon7			ACGGGCTGACCCT	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	ENST00000254066.5:c.869T>C	17.37:g.38510615T>C	ENSP00000254066:p.Leu290Pro		104	0	0		136	0.04	5	NM_000964	94	0.04	4	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.882080	0.51908	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	T;D;T;T;T	0.96830	0.98;-4.14;0.98;0.98;0.98	4.93	4.93	0.64822	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000003	D	0.97451	0.9166	M	0.67569	2.06	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.75020	0.955;0.985;0.95	D	0.98081	1.0404	10	0.87932	D	0	.	13.6851	0.62511	0.0:0.0:0.0:1.0	.	193;285;290	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	P	290;193;290;306;285;283;177	ENSP00000254066:L290P;ENSP00000389993:L193P;ENSP00000377649:L290P;ENSP00000377648:L306P;ENSP00000377643:L285P	ENSP00000254066:L290P	L	+	2	0	RARA	35764141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.859000	0.86982	2.055000	0.61198	0.482000	0.46254	CTG			0.632	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257136.2	rescued with RNA-seq			C	38510615	T	C	38510615	3	2	83	1	0	0	0	0	1	0	0	0	13075	1580	55	4	1058	4	RARA	17	38510615	Missense_Mutation	SNP	T	TCGA-4K-AA1H-01A-11D-A435-10		38510615	42684595	37	5880											
NOTCH3	4854	bcgsc.ca	37	chr19	15291593	15291593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccccagtctggacgcagCgacccccgttttgacaaggc	8	6	12	15	3	1	1	0	1	1	0	1	3	1	2	4	3	1	2	4	3	1	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:15291593C>T	ENST00000263388.2	-	19	3116	c.3041G>A	c.(3040-3042)cGc>cAc	p.R1014H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1014	EGF-like 26. {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)			CTGGACGCAGCGACCCCCGTT	0.637																																					p.R1014H													.	NOTCH3	340		0			c.G3041A												38	34	35					19																	15291593		2200	4300	6500	SO:0001583	missense	4854	exon19			ACGCAGCGACCCC	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.3041G>A	19.37:g.15291593C>T	ENSP00000263388:p.Arg1014His		46	0	0		43	0.09	4	NM_000435	31	0	0	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026277	0.35701	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87809	-2.3	5.13	0.384	0.16244	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.32719	N	0.005726	T	0.76702	0.4024	L	0.35288	1.05	0.42278	D	0.992084	B;B	0.25955	0.08;0.138	B;B	0.28139	0.043;0.086	T	0.64179	-0.6468	10	0.37606	T	0.19	.	5.6977	0.17865	0.0:0.567:0.1304:0.3026	.	965;1014	Q59FL3;Q9UM47	.;NOTC3_HUMAN	H	1014;964	ENSP00000263388:R1014H	ENSP00000263388:R1014H	R	-	2	0	NOTCH3	15152593	0.000000	0.05858	0.997000	0.53966	0.281000	0.26958	-0.728000	0.04925	0.187000	0.20147	-0.253000	0.11424	CGC			0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465714.1		NM_000435		T	15291593	C	T	15291593	3	4	83	1	0	0	0	0	1	0	0	0	10567	768	27	1	3984	1	NOTCH3	19	15291593	Missense_Mutation	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10		15291593	43837390	38	5881											
CEACAM7	1087	bcgsc.ca	37	chr19	42190800	42190800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcactcacagaatacgtaGaattgtctggttacttcttc	11	15	6	9	1	4	2	2	0	2	2	5	2	4	2	0	1	2	2	0	1	6	7			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:42190800G>T	ENST00000006724.3	-	2	618	c.417C>A	c.(415-417)ttC>ttA	p.F139L	CEACAM7_ENST00000602225.1_Missense_Mutation_p.F139L|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Missense_Mutation_p.F139L|CEACAM7_ENST00000401731.1_Missense_Mutation_p.F139L	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	139	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		AGAATACGTAGAATTGTCTGG	0.483																																					p.F139L													.	CEACAM7	33		0			c.C417A												148	136	140					19																	42190800		2203	4300	6503	SO:0001583	missense	1087	exon2			TACGTAGAATTGT	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.417C>A	19.37:g.42190800G>T	ENSP00000006724:p.Phe139Leu		109	0.0091743119	1		167	0.04	7	NM_006890	0		0	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.344726	0.01277	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.00649	5.98;5.98;5.98	1.68	0.605	0.17553	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00608	0.0020	L	0.28649	0.875	0.09310	N	1	B;B	0.30114	0.269;0.0	B;B	0.34452	0.183;0.017	T	0.45659	-0.9246	9	0.23302	T	0.38	.	3.4249	0.07406	0.2823:0.0:0.7177:0.0	.	139;139	Q14002-2;Q14002	.;CEAM7_HUMAN	L	139;118;139;139	ENSP00000006724:F139L;ENSP00000385932:F139L;ENSP00000343286:F139L	ENSP00000006724:F139L	F	-	3	2	CEACAM7	46882640	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	0.167000	0.16602	0.235000	0.21160	0.313000	0.20887	TTC			0.483	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321145.1		NM_006890		T	42190800	G	T	42190800	3	4	83	1	0	0	0	0	1	0	0	0	3199	933	33	3	392	3	CEACAM7	19	42190800	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	26899207	42190800	16938183	39	5882											
ZNF526	116115	ucsc.edu	37	chr19	42729230	42729230	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactttgactccctagagaaAgaggagcgcaatgggttgga	12	8	13	8	1	0	3	0	1	0	2	1	6	1	5	1	3	1	2	1	3	3	3			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:42729230A>G	ENST00000301215.3	+	3	900	c.675A>G	c.(673-675)aaA>aaG	p.K225K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	225	Glu-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)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCCTAGAGAAAGAGGAGCGCA	0.557																																					p.K225K													.	ZNF526	51		0			c.A675G												100	78	86					19																	42729230		2203	4300	6503	SO:0001819	synonymous_variant	116115	exon3			AGAGAAAGAGGAG	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.675A>G	19.37:g.42729230A>G			87	0	0		94	0.01	1	NM_133444	40	0.13	5	B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	CCDS12598.1																																																																																					0.557	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463681.2		XM_057401		G	42729230	A	G	42729230	2	3	83	1	0	0	0	0	0	0	0	1	17990	69	3	4		4	ZNF526	19	42729230	Silent	SNP	A	TCGA-4K-AA1H-01A-11D-A435-10	538430	42729230	16399753	40	5883											
ZNF28	7576	ucsc.edu	37	chr19	53304611	53304611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgatagacttctcaacttGattaccaattttcccttcag	10	16	5	10	0	2	3	2	2	1	1	4	3	3	3	2	0	2	1	2	0	4	8			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:53304611G>C	ENST00000457749.2	-	4	606	c.487C>G	c.(487-489)Caa>Gaa	p.Q163E	ZNF28_ENST00000360272.4_Missense_Mutation_p.Q110E|ZNF28_ENST00000438150.2_Missense_Mutation_p.Q110E|ZNF28_ENST00000414252.2_Missense_Mutation_p.Q110E	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	163					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)		TTCTCAACTTGATTACCAATT	0.373																																					p.Q163E													.	ZNF28	191		0			c.C487G												158	163	162					19																	53304611		2203	4300	6503	SO:0001583	missense	7576	exon4			CAACTTGATTACC	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.487C>G	19.37:g.53304611G>C	ENSP00000397693:p.Gln163Glu		69	0.0289855072	2		107	0.05	5	NM_006969	14	0.29	4	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	3.225	-0.158708	0.06544	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.08720	3.06;3.21;3.06;3.06;3.14	1.81	0.625	0.17665	.	.	.	.	.	T	0.07369	0.0186	N	0.16903	0.455	0.09310	N	1	P	0.40332	0.713	P	0.51806	0.68	T	0.15350	-1.0440	9	0.02654	T	1	.	7.6316	0.28243	0.0:0.2679:0.732:0.0	.	163	P17035	ZNF28_HUMAN	E	110;163;110;110;110	ENSP00000412143:Q110E;ENSP00000397693:Q163E;ENSP00000353410:Q110E;ENSP00000444965:Q110E;ENSP00000375661:Q110E	ENSP00000353410:Q110E	Q	-	1	0	ZNF28	57996423	0.000000	0.05858	0.005000	0.12908	0.064000	0.16182	-0.354000	0.07681	0.070000	0.16634	0.298000	0.19748	CAA			0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336038.2		NM_006969		C	53304611	G	C	53304611	3	2	83	1	0	0	0	0	1	0	0	0	17836	1299	45	5	1673	5	ZNF28	19	53304611	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	10575381	53304611	5824372	41	5884											
ZNF264	9422	mdanderson.org	37	chr19	57723163	57723163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagttaagccctatgaatGcacagaatgtgggaaaacct	14	9	11	7	0	0	2	0	1	0	1	0	4	0	4	2	2	3	2	2	2	6	2			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:57723163G>T	ENST00000263095.6	+	4	1112	c.698G>T	c.(697-699)tGc>tTc	p.C233F	ZNF264_ENST00000536056.1_Missense_Mutation_p.C233F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCCTATGAATGCACAGAATGT	0.418																																					p.C233F													.	.			0			c.G698T												95	95	95					19																	57723163		2203	4300	6503	SO:0001583	missense	9422	exon4			ATGAATGCACAGA	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.698G>T	19.37:g.57723163G>T	ENSP00000263095:p.Cys233Phe		56	0	0		54	0.06	3	NM_003417	9	0	0	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442783	0.63067	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	D;D	0.85088	-1.94;-1.94	2.35	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93851	0.8033	H	0.95645	3.7	0.41927	D	0.990549	D	0.89917	1.0	D	0.91635	0.999	D	0.95033	0.8171	9	0.87932	D	0	.	12.4506	0.55675	0.0:0.0:1.0:0.0	.	233	O43296	ZN264_HUMAN	F	233	ENSP00000263095:C233F;ENSP00000440376:C233F	ENSP00000263095:C233F	C	+	2	0	ZNF264	62414975	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.957000	0.76019	1.644000	0.50603	0.491000	0.48974	TGC			0.418	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465080.1				T	57723163	G	T	57723163	3	4	83	1	0	0	0	0	1	0	0	0	17827	1319	46	2	712	2	ZNF264	19	57723163	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10	4418552	57723163	1405820	42	5885											
NCOA3	8202	hgsc.bcm.edu;mdanderson.org	37	chr20	46279845	46279845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacagcagcaGcagcagcagcagcagcagca	15	0	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr20:46279845G>A	ENST00000371998.3	+	20	3962	c.3771G>A	c.(3769-3771)caG>caA	p.Q1257Q	NCOA3_ENST00000371997.3_Silent_p.Q1248Q|NCOA3_ENST00000341724.6_Silent_p.Q1183Q|NCOA3_ENST00000372004.3_Silent_p.Q1253Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1257	Acetyltransferase.|Poly-Gln.				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						aacagcagcagcagcagcagc	0.567																																					p.Q1257Q													NCOA3,NS,carcinoma,0,1	NCOA3	0	1	0			c.G3771A												43	50	47					20																	46279845		2203	4300	6503	SO:0001819	synonymous_variant	8202	exon20			GCAGCAGCAGCAG	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.3771G>A	20.37:g.46279845G>A			76	0	0		81	0.17	14	NM_181659	33	0	0	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																					0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080405.1		NM_006534		A	46279845	G	A	46279845	2	1	83	1	0	0	0	0	0	0	0	1	10247	962	34	2		2	NCOA3	20	46279845	Silent	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		46279845	16745675	43	5886											
DIP2A	23181	mdanderson.org	37	chr21	47969714	47969714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgtgaccgtgctgcaCgacgaccggattgtcctggt	5	12	12	12	4	1	1	0	1	1	0	3	4	2	2	3	2	2	2	3	2	0	2	rs199823306		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr21:47969714C>T	ENST00000417564.2	+	22	2574	c.2553C>T	c.(2551-2553)caC>caT	p.H851H	DIP2A_ENST00000318711.7_Silent_p.H852H|DIP2A_ENST00000400274.1_Silent_p.H847H|DIP2A_ENST00000457905.3_Silent_p.H851H|DIP2A_ENST00000427143.2_Silent_p.H787H			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	851					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGTGCTGCACGACGACCGGA	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		16747	0		0	False		,,,				2504	0				p.H851H													.	.			0			c.C2553T							C	,,,	3,4401	6.2+/-15.9	0,3,2199	105	109	108		2361,2541,2553,2553	-9.5	0.1	21		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIP2A	NM_001146114.1,NM_001146116.1,NM_015151.3,NM_206889.2	,,,	0,4,6498	TT,TC,CC		0.0116,0.0681,0.0308	,,,	787/1111,847/1568,851/1572,851/890	47969714	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	23181	exon22			GCTGCACGACGAC	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2553C>T	21.37:g.47969714C>T			36	0	0		47	0.06	3	NM_206889	18	0	0	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	CCDS46655.1																																																																																			0		0.622	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000376736.1		NM_015151		T	47969714	C	T	47969714	2	4	83	1	0	0	0	0	0	0	0	1	4532	535	19	1		1	DIP2A	21	47969714	Silent	SNP	C	TCGA-4K-AA1H-01A-11D-A435-10		47969714	160181	44	5887											
CRELD2	79174	mdanderson.org	37	chr22	50319192	50319192	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaagatgcctgtgtgccGccggcagaggctggtgagtg	7	7	18	9	3	0	3	0	1	0	2	0	4	0	4	3	4	2	2	3	4	1	0			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr22:50319192G>T	ENST00000328268.4	+	9	1070	c.996G>T	c.(994-996)ccG>ccT	p.P332P	CRELD2_ENST00000404488.3_Silent_p.P381P|CRELD2_ENST00000403427.3_Silent_p.P304P|CRELD2_ENST00000407217.3_Silent_p.P300P	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	332						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)		CCTGTGTGCCGCCGGCAGAGG	0.587																																					p.P381P													CRELD2_ENST00000404488,NS,malignant_melanoma,+2,2	CRELD2_ENST00000404488	2	2	0			c.G1143T												88	82	84					22																	50319192		2203	4300	6503	SO:0001819	synonymous_variant	79174	exon10			TGTGCCGCCGGCA	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.996G>T	22.37:g.50319192G>T			43	0	0		40	0.08	3	NM_001135101	195	0	0	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	CCDS14082.1																																																																																					0.587	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317409.1		NM_024324		T	50319192	G	T	50319192	2	4	83	1	0	0	0	0	0	0	0	1	3869	1074	38	1		1	CRELD2	22	50319192	Silent	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		50319192	985374	45	5888											
WNK3	65267	mdanderson.org	37	chrX	54263899	54263899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaaggcttcttcactaGaatggtttgtctcactgaac	12	14	7	8	0	3	2	2	1	2	1	4	2	3	2	0	2	1	2	0	2	6	6			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chrX:54263899G>T	ENST00000375159.2	-	19	4099	c.4100C>A	c.(4099-4101)tCt>tAt	p.S1367Y	WNK3_ENST00000354646.2_Missense_Mutation_p.S1367Y|WNK3_ENST00000375169.3_Missense_Mutation_p.S1320Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1367					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCTTCACTAGAATGGTTTGT	0.353																																					p.S1367Y													.	.			0			c.C4100A												80	73	75					X																	54263899		2203	4300	6503	SO:0001583	missense	65267	exon20			TCACTAGAATGGT	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4100C>A	X.37:g.54263899G>T	ENSP00000364301:p.Ser1367Tyr		18	0	0		16	0.13	2	NM_020922	3	0	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346274	0.41599	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71103	-0.54;-0.54;-0.54	5.27	4.41	0.53225	.	0.114316	0.39475	N	0.001353	T	0.73544	0.3600	L	0.29908	0.895	0.23795	N	0.996825	D;D	0.89917	1.0;0.964	D;P	0.87578	0.998;0.694	T	0.64253	-0.6451	10	0.72032	D	0.01	-6.7781	9.0274	0.36239	0.1055:0.0:0.8945:0.0	.	1320;1367	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	1320;1367;1367	ENSP00000364312:S1320Y;ENSP00000346667:S1367Y;ENSP00000364301:S1367Y	ENSP00000346667:S1367Y	S	-	2	0	WNK3	54280624	0.998000	0.40836	0.797000	0.32132	0.608000	0.37181	2.321000	0.43805	1.112000	0.41740	0.600000	0.82982	TCT			0.353	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056799.2		NM_020922		T	54263899	G	T	54263899	3	4	83	1	0	0	0	0	1	0	0	0	17403	942	33	3	1322	3	WNK3	23	54263899	Missense_Mutation	SNP	G	TCGA-4K-AA1H-01A-11D-A435-10		54263899	101006661	46	5889											
TAS1R3	83756	mdanderson.org	37	chr1	1269228	1269228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgctcacgggctgccTgagcacactcttcctgcagg	5	8	10	18	2	2	1	1	1	1	0	4	1	4	1	4	2	3	4	4	2	0	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr1:1269228T>C	ENST00000339381.5	+	6	1975	c.1943T>C	c.(1942-1944)cTg>cCg	p.L648P		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	648					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)		ACGGGCTGCCTGAGCACACTC	0.701																																					p.L648P													.	.			0			c.T1943C												21	23	22					1																	1269228		2193	4293	6486	SO:0001583	missense	83756	exon6			GCTGCCTGAGCAC	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.1943T>C	1.37:g.1269228T>C	ENSP00000344411:p.Leu648Pro		32	0	0		24	0.13	3	NM_152228	2	0	0	Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.659166	0.29515	.	.	ENSG00000169962	ENST00000339381	D	0.89617	-2.54	4.2	3.05	0.35203	GPCR, family 3, C-terminal (2);	0.080149	0.52532	D	0.000072	D	0.93387	0.7891	M	0.81341	2.54	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92659	0.6140	10	0.87932	D	0	.	9.7203	0.40300	0.0:0.0:0.1743:0.8257	.	648	Q7RTX0	TS1R3_HUMAN	P	648	ENSP00000344411:L648P	ENSP00000344411:L648P	L	+	2	0	TAS1R3	1259091	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	3.292000	0.51772	0.668000	0.31126	0.329000	0.21502	CTG			0.701	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008493.1				C	1269228	T	C	1269228	3	2	84	1	0	0	0	0	1	0	0	0	15587	1580	55	4	1965	4	TAS1R3	1	1269228	Missense_Mutation	SNP	T	TCGA-4K-AA1I-01A-11D-A435-10		1269228	247981393	1	5890											
PRAMEF2	65122	hgsc.bcm.edu	37	chr1	12921136	12921136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacctattagaagaggaCttgaagtgtctctcccagtt	11	11	10	9	0	1	3	0	1	1	2	3	4	2	4	2	2	1	2	2	2	5	4	rs368491327	byFrequency	TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr1:12921136C>T	ENST00000240189.2	+	4	1014	c.927C>T	c.(925-927)gaC>gaT	p.D309D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	309					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.D309D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAAGAGGACTTGAAGTGTC	0.498													.|||	12	0.00239617	0.0038	0.0058	5008	,	,		21997	0.001		0.001	False		,,,				2504	0.001				p.D309D													PRAMEF2,pharynx,carcinoma,0,1	PRAMEF2	0	1	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.C927T												131	134	133					1																	12921136		2202	4297	6499	SO:0001819	synonymous_variant	65122	exon4			AGAGGACTTGAAG		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.927C>T	1.37:g.12921136C>T			103	0.0097087379	1		81	0.07	6	NM_023014	0		0		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																					0.498	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005517.1		NM_023014		T	12921136	C	T	12921136	2	4	84	1	0	0	0	0	0	0	0	1	12455	564	20	3		3	PRAMEF2	1	12921136	Silent	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10	11651908	12921136	236329485	2	5891											
PRAMEF4	400735	ucsc.edu	37	chr1	12939904	12939904	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagttagttattgtgaggaActttaacgaggtcttcagac	12	13	10	6	1	2	2	1	1	1	1	2	4	2	3	0	2	2	2	0	2	4	6	rs3895133		TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr1:12939904A>C	ENST00000235349.5	-	4	968	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	300					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTGAGGAACTTTAACGAG	0.483																																					p.F300V													.	PRAMEF4	62		0			c.T898G												50	69	62					1																	12939904		1404	2644	4048	SO:0001583	missense	400735	exon4			TGAGGAACTTTAA		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.898T>G	1.37:g.12939904A>C	ENSP00000235349:p.Phe300Val		25	0.2	5		17	0.35	6	NM_001009611	0		0	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	t	1.416	-0.574302	0.03882	.	.	ENSG00000243073	ENST00000235349	T	0.38887	1.11	1.48	-2.96	0.05547	.	1.221790	0.05721	N	0.597800	T	0.18759	0.0450	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09207	-1.0685	10	0.37606	T	0.19	.	3.305	0.06997	0.5711:0.149:0.0:0.2799	.	300	O60810	PRAM4_HUMAN	V	300	ENSP00000235349:F300V	ENSP00000235349:F300V	F	-	1	0	PRAMEF4	12862491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.518000	0.02246	-3.281000	0.00197	-4.216000	0.00009	TTC			0.483	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005518.1		NM_001009611		C	12939904	A	C	12939904	3	2	84	1	0	0	0	0	1	0	0	0	12457	43	2	4	542	4	PRAMEF4	1	12939904	Missense_Mutation	SNP	A	TCGA-4K-AA1I-01A-11D-A435-10	18768	12939904	236310717	3	5892											
ASB17	127247	mdanderson.org	37	chr1	76388026	76388026	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacttaatgggcttggacaGtatactggtgtgaaagttct	10	13	11	7	0	1	1	0	1	1	0	1	2	1	2	1	3	1	3	1	3	4	5			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr1:76388026G>T	ENST00000284142.6	-	2	559	c.420C>A	c.(418-420)taC>taA	p.Y140*		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	140					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GGCTTGGACAGTATACTGGTG	0.333																																					p.Y140X													.	.			0			c.C420A												58	55	56					1																	76388026		2203	4300	6503	SO:0001587	stop_gained	127247	exon2			TGGACAGTATACT	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.420C>A	1.37:g.76388026G>T	ENSP00000284142:p.Tyr140*		42	0	0		39	0.08	3	NM_080868	0		0	B1APB8|Q8N0X5	Nonsense_Mutation	SNP	ENST00000284142.6	37	CCDS671.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088125	0.94100	.	.	ENSG00000154007	ENST00000284142	.	.	.	4.96	4.02	0.46733	.	0.304532	0.23736	N	0.045063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9239	0.41481	0.1012:0.0:0.8988:0.0	.	.	.	.	X	140	.	ENSP00000284142:Y140X	Y	-	3	2	ASB17	76160614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.858000	0.39408	2.480000	0.83734	0.460000	0.39030	TAC			0.333	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000026982.1		NM_080868		T	76388026	G	T	76388026	4	4	84	1	0	0	0	0	0	1	0	0	1021	1024	36	3	475	3	ASB17	1	76388026	Nonsense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	63448122	76388026	172862595	4	5893											
DNASE2B	58511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	84880280	84880280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaacctggcagcgaaaaaGacaagagcttccttcaaact	17	6	8	10	1	1	3	1	0	0	3	2	4	2	3	2	1	4	2	2	1	5	2			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr1:84880280G>C	ENST00000370665.3	+	6	848	c.815G>C	c.(814-816)aGa>aCa	p.R272T	DNASE2B_ENST00000370662.3_Missense_Mutation_p.R64T	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	272					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CAGCGAAAAAGACAAGAGCTT	0.408																																					p.R272T	Pancreas(54;788 1175 11852 16034 30034)												.	.			0			c.G815C												99	100	100					1																	84880280		2203	4300	6503	SO:0001583	missense	58511	exon6			GAAAAAGACAAGA	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.815G>C	1.37:g.84880280G>C	ENSP00000359699:p.Arg272Thr		160	0	0		159	0.12	19	NM_021233	6	0	0	Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	G	8.122	0.781114	0.16120	.	.	ENSG00000137976	ENST00000370665;ENST00000370662	T;T	0.12984	2.63;2.63	4.42	0.729	0.18266	.	0.503327	0.23400	N	0.048584	T	0.01976	0.0062	N	0.24115	0.695	0.09310	N	1	B	0.30973	0.302	B	0.27262	0.078	T	0.47586	-0.9106	10	0.13470	T	0.59	-9.9588	8.1025	0.30865	0.1036:0.2755:0.6209:0.0	.	272	Q8WZ79	DNS2B_HUMAN	T	272;64	ENSP00000359699:R272T;ENSP00000359696:R64T	ENSP00000359696:R64T	R	+	2	0	DNASE2B	84652868	0.009000	0.17119	0.840000	0.33206	0.922000	0.55478	0.782000	0.26788	0.158000	0.19367	0.655000	0.94253	AGA			0.408	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000027248.1		NM_021233		C	84880280	G	C	84880280	3	2	84	1	0	0	0	0	1	0	0	0	4670	942	33	5	837	5	DNASE2B	1	84880280	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	8492254	84880280	164370341	5	5894											
AKNAD1	254268	mdanderson.org	37	chr1	109391643	109391643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaagtgcctttctgagagGttggtgacaacttagagaga	12	10	14	5	0	1	4	0	2	1	3	1	7	1	5	1	3	2	1	1	3	3	3			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr1:109391643G>A	ENST00000370001.3	-	4	1341	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I	AKNAD1_ENST00000369995.3_Missense_Mutation_p.T358I|AKNAD1_ENST00000369994.1_Missense_Mutation_p.T358I|AKNAD1_ENST00000357393.4_Missense_Mutation_p.T65I	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	358						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						TTTCTGAGAGGTTGGTGACAA	0.378																																					p.T358I													.	.			0			c.C1073T												94	97	96					1																	109391643		2203	4300	6503	SO:0001583	missense	254268	exon4			TGAGAGGTTGGTG	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.1073C>T	1.37:g.109391643G>A	ENSP00000359018:p.Thr358Ile		46	0	0		31	0.1	3	NM_152763	0		0	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	10.64	1.405711	0.25378	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.31	4.39	0.52855	.	0.503710	0.21360	N	0.075804	T	0.22244	0.0536	L	0.34521	1.04	0.09310	N	1	P;P	0.40931	0.733;0.576	P;B	0.46758	0.526;0.244	T	0.06862	-1.0803	10	0.54805	T	0.06	-1.7909	14.1718	0.65514	0.0:0.1502:0.8498:0.0	.	65;358	B4DET8;Q5T1N1	.;AKND1_HUMAN	I	358;65;358;358	ENSP00000359018:T358I;ENSP00000349968:T65I;ENSP00000359011:T358I;ENSP00000359012:T358I	ENSP00000349968:T65I	T	-	2	0	AKNAD1	109193166	0.022000	0.18835	0.003000	0.11579	0.010000	0.07245	2.190000	0.42630	1.342000	0.45619	0.561000	0.74099	ACC			0.378	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030923.2		NM_152763		A	109391643	G	A	109391643	3	1	84	1	0	0	0	0	1	0	0	0	464	1261	44	3	1489	3	AKNAD1	1	109391643	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	24511363	109391643	139858978	6	5895											
DENND4B	9909	mdanderson.org	37	chr1	153914440	153914440	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaggccagcgggacagCacagcgatggcacgccggct	10	2	16	13	4	0	0	0	0	0	0	0	2	0	1	2	5	3	4	2	5	1	0			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr1:153914440C>T	ENST00000361217.4	-	6	1378	c.960G>A	c.(958-960)gtG>gtA	p.V320V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	320	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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)			AGCGGGACAGCACAGCGATGG	0.692																																					p.V320V													DENND4B_ENST00000361217,NS,carcinoma,-1,2	DENND4B_ENST00000361217	-1	2	0			c.G960A												31	38	36					1																	153914440		2167	4257	6424	SO:0001819	synonymous_variant	9909	exon6			GGACAGCACAGCG	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.960G>A	1.37:g.153914440C>T			18	0	0		20	0.1	2	NM_014856	35	0	0	Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359960	0.24598	.	.	ENSG00000198837	ENST00000472932	.	.	.	4.39	1.36	0.22044	.	.	.	.	.	T	0.46541	0.1398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51092	-0.8749	5	0.87932	D	0	-17.3499	5.0801	0.14651	0.0:0.4917:0.2401:0.2682	.	.	.	.	Y	169	.	ENSP00000435709:C169Y	C	-	2	0	DENND4B	152181064	0.316000	0.24580	0.999000	0.59377	0.894000	0.52154	-0.380000	0.07427	0.483000	0.27608	-0.448000	0.05591	TGC			0.692	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090278.2		XM_375806		T	153914440	C	T	153914440	2	4	84	1	0	0	0	0	0	0	0	1	4439	697	25	2		2	DENND4B	1	153914440	Silent	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10	44522797	153914440	95336181	7	5896											
SOX13	9580	mdanderson.org	37	chr1	204092289	204092289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaggagcggctggaggacgGctgtgtgcacccactggagg	8	5	18	10	2	0	0	0	0	0	0	0	4	0	4	1	7	2	3	1	7	1	0			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr1:204092289G>A	ENST00000367204.1	+	11	1293	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	395					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGGAGGACGGCTGTGTGCAC	0.622																																					p.G395D													.	.			0			c.G1184A												76	86	83					1																	204092289		2143	4259	6402	SO:0001583	missense	9580	exon11			AGGACGGCTGTGT		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1184G>A	1.37:g.204092289G>A	ENSP00000356172:p.Gly395Asp		132	0	0		115	0.04	5	NM_005686	142	0	0	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139861	0.37728	.	.	ENSG00000143842	ENST00000367204	D	0.97752	-4.52	4.96	0.85	0.18980	.	0.747816	0.13749	N	0.365427	D	0.92312	0.7561	N	0.19112	0.55	0.24171	N	0.995624	B;B;B	0.17038	0.006;0.006;0.02	B;B;B	0.14023	0.01;0.005;0.01	D	0.84137	0.0415	10	0.25106	T	0.35	.	6.2573	0.20881	0.2502:0.411:0.3387:0.0	.	262;262;395	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	D	395	ENSP00000356172:G395D	ENSP00000356172:G395D	G	+	2	0	SOX13	202358912	0.057000	0.20700	0.986000	0.45419	0.664000	0.39144	0.028000	0.13644	0.120000	0.18254	0.563000	0.77884	GGC			0.622	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087881.2		NM_005686		A	204092289	G	A	204092289	3	1	84	1	0	0	0	0	1	0	0	0	14967	1203	42	2	1222	2	SOX13	1	204092289	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	50177849	204092289	45158332	8	5897											
EPAS1	2034	broad.mit.edu	37	chr2	46605204	46605204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacccccagtgccaccaGcagcagcagcagctgctcca	10	3	8	20	0	0	0	0	0	0	0	1	0	1	0	6	0	7	6	6	0	0	0			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr2:46605204G>C	ENST00000263734.3	+	10	1931	c.1421G>C	c.(1420-1422)aGc>aCc	p.S474T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	474	Poly-Ser.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|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)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGCCACCAGCAGCAGCAGC	0.647																																					p.S474T													.	EPAS1	83		0			c.G1421C												11	11	11					2																	46605204		2187	4279	6466	SO:0001583	missense	2034	exon10			CCACCAGCAGCAG	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1421G>C	2.37:g.46605204G>C	ENSP00000263734:p.Ser474Thr		86	0	0		83	0.04	3	NM_001430	91	0	0	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	7.913	0.736896	0.15574	.	.	ENSG00000116016	ENST00000263734	T	0.52057	0.68	0.355	0.355	0.16069	.	0.384965	0.33875	N	0.004469	T	0.31606	0.0802	L	0.46157	1.445	0.26854	N	0.968104	B	0.31931	0.347	B	0.20577	0.03	T	0.15065	-1.0450	9	0.41790	T	0.15	.	.	.	.	.	474	Q99814	EPAS1_HUMAN	T	474	ENSP00000263734:S474T	ENSP00000263734:S474T	S	+	2	0	EPAS1	46458708	0.936000	0.31750	0.816000	0.32577	0.971000	0.66376	0.064000	0.14437	0.458000	0.26988	0.089000	0.15464	AGC			0.647	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250752.2		NM_001430		C	46605204	G	C	46605204	3	2	84	1	0	0	0	0	1	0	0	0	5157	971	34	5	1459	5	EPAS1	2	46605204	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10		46605204	196594169	9	5898											
PUS10	150962	broad.mit.edu	37	chr2	61238921	61238921	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatggaagtttgtaaggTgcatgaaaatccacaccaca	14	11	9	7	0	0	1	0	1	0	0	1	2	1	2	2	2	1	4	2	2	5	4	rs541492398	byFrequency	TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr2:61238921T>G	ENST00000316752.6	-	2	366	c.105A>C	c.(103-105)gcA>gcC	p.A35A	PUS10_ENST00000398658.2_Silent_p.A35A|PUS10_ENST00000407787.1_Silent_p.A35A	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	35					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GTTTGTAAGGTGCATGAAAAT	0.353													T|||	47	0.00938498	0.0144	0.0086	5008	,	,		14637	0.003		0.007	False		,,,				2504	0.0123				p.A35A													.	PUS10	49		0			c.A105C												67	60	63					2																	61238921		2203	4300	6503	SO:0001819	synonymous_variant	150962	exon2			GTAAGGTGCATGA	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.105A>C	2.37:g.61238921T>G			53	0.0943396226	5		73	0.21	15	NM_144709	15	0	0	Q5JPJ5|Q96MI8	Silent	SNP	ENST00000316752.6	37	CCDS1865.1																																																																																					0.353	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251582.2		NM_144709		G	61238921	T	G	61238921	2	3	84	1	0	0	0	0	0	0	0	1	12854	1683	59	4		4	PUS10	2	61238921	Silent	SNP	T	TCGA-4K-AA1I-01A-11D-A435-10	14633717	61238921	181960452	10	5899											
TBC1D8	11138	mdanderson.org	37	chr2	101643904	101643904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgagacttccgggataaCgactcgaagcttgaggaaag	14	8	12	7	3	0	2	0	2	0	1	2	7	1	4	1	2	2	1	1	2	4	4	rs201720097	byFrequency	TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr2:101643904C>T	ENST00000376840.4	-	15	2415	c.2416G>A	c.(2416-2418)Gtt>Att	p.V806I	TBC1D8_ENST00000409318.1_Missense_Mutation_p.V821I			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	806					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCCGGGATAACGACTCGAAGC	0.542																																					p.V806I													.	.			0			c.G2416A												77	78	77					2																	101643904		1906	4129	6035	SO:0001583	missense	11138	exon15			GGATAACGACTCG	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2416G>A	2.37:g.101643904C>T	ENSP00000366036:p.Val806Ile		58	0	0		38	0.08	3	NM_001102426	29	0	0	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978475	0.34942	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.53640	0.61;0.61	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000043	T	0.55940	0.1952	L	0.35249	1.045	0.35866	D	0.827878	D	0.89917	1.0	D	0.85130	0.997	T	0.53173	-0.8476	10	0.11485	T	0.65	-26.3154	17.2377	0.87004	0.0:1.0:0.0:0.0	.	806	O95759	TBCD8_HUMAN	I	806;821	ENSP00000366036:V806I;ENSP00000386856:V821I	ENSP00000366036:V806I	V	-	1	0	TBC1D8	101010336	0.993000	0.37304	0.151000	0.22473	0.883000	0.51084	3.810000	0.55613	2.554000	0.86153	0.655000	0.94253	GTT			0.542	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376092.1		NM_007063		T	101643904	C	T	101643904	3	4	84	1	0	0	0	0	1	0	0	0	15648	536	19	1	1030	1	TBC1D8	2	101643904	Missense_Mutation	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10	40404983	101643904	141555469	11	5900											
KLHL30	377007	broad.mit.edu	37	chr2	239059588	239059588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcctacgacacggttcGggacacctggacccgccacg	8	4	14	15	5	0	0	0	0	0	0	1	4	0	3	4	5	1	1	4	5	1	2	rs535668533	byFrequency	TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr2:239059588G>T	ENST00000409223.1	+	8	1726	c.1619G>T	c.(1618-1620)cGg>cTg	p.R540L	KLHL30_ENST00000305959.4_Missense_Mutation_p.R522L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	540										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GACACGGTTCGGGACACCTGG	0.692																																					p.R540L													.	KLHL30	79		0			c.G1619T												15	22	19					2																	239059588		2117	4203	6320	SO:0001583	missense	377007	exon8			CGGTTCGGGACAC		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1619G>T	2.37:g.239059588G>T	ENSP00000386389:p.Arg540Leu		143	0.006993007	1		117	0.03	3	NM_198582	0		0	Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	4.485	0.089861	0.08632	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.64438	-0.1;-0.1	4.66	1.81	0.25067	Kelch-type beta propeller (1);	0.419762	0.22183	N	0.063475	T	0.44307	0.1287	L	0.38175	1.15	0.09310	N	1	P	0.38992	0.653	B	0.36504	0.226	T	0.24584	-1.0156	10	0.35671	T	0.21	.	4.7212	0.12918	0.3394:0.1536:0.5071:0.0	.	540	Q0D2K2	KLH30_HUMAN	L	540;522	ENSP00000386389:R540L;ENSP00000302386:R522L	ENSP00000302386:R522L	R	+	2	0	KLHL30	238724327	0.000000	0.05858	0.008000	0.14137	0.199000	0.23934	1.103000	0.31062	0.584000	0.29591	-0.254000	0.11334	CGG			0.692	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328518.1		NM_198582		T	239059588	G	T	239059588	3	4	84	1	0	0	0	0	1	0	0	0	8399	1116	39	1	1645	1	KLHL30	2	239059588	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	137415684	239059588	4139785	12	5901											
AMOTL2	51421	mdanderson.org	37	chr3	134084676	134084676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactctgagcaagcagcttgGccaccatgtcctgactgccg	8	8	10	15	1	1	2	0	2	1	0	2	2	2	2	4	1	4	3	4	1	1	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr3:134084676G>A	ENST00000422605.2	-	5	1428	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V	AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000514516.1_Missense_Mutation_p.A479V|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421V|AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421V			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	421					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						AAGCAGCTTGGCCACCATGTC	0.572																																					p.A421V													.	.			0			c.C1262T												92	89	90					3																	134084676		2203	4300	6503	SO:0001583	missense	51421	exon5			AGCTTGGCCACCA	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.1262C>T	3.37:g.134084676G>A	ENSP00000409999:p.Ala421Val		49	0	0		47	0.06	3	NM_016201	15	0	0	A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148941	0.78001	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.63	4.63	0.57726	.	0.123656	0.56097	D	0.000030	T	0.25938	0.0632	L	0.52573	1.65	0.58432	D	0.999992	P;P;P	0.38020	0.607;0.607;0.615	B;B;B	0.33121	0.12;0.12;0.158	T	0.11446	-1.0587	10	0.54805	T	0.06	-17.4922	17.6746	0.88227	0.0:0.0:1.0:0.0	.	421;421;479	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	V	421;421;479;421	ENSP00000249883:A421V;ENSP00000409999:A421V;ENSP00000424765:A479V;ENSP00000425475:A421V	ENSP00000249883:A421V	A	-	2	0	AMOTL2	135567366	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.014000	0.76380	2.401000	0.81631	0.305000	0.20034	GCC			0.572	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000358149.1		NM_016201		A	134084676	G	A	134084676	3	1	84	1	0	0	0	0	1	0	0	0	584	1203	42	2	1104	2	AMOTL2	3	134084676	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10		134084676	63937754	13	5902											
C4orf35	85438	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	71201486	71201486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaataaccgaaattgacCtaagtgttttagaagatgac	18	10	8	5	1	0	5	0	2	0	3	0	6	0	5	2	0	1	1	2	0	7	5			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr4:71201486C>G	ENST00000273936.5	+	1	804	c.730C>G	c.(730-732)Cta>Gta	p.L244V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	244					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGAAATTGACCTAAGTGTTTT	0.413																																					p.L244V													.	.			0			c.C730G												107	106	106					4																	71201486		2203	4300	6503	SO:0001583	missense	85438	exon1			ATTGACCTAAGTG	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.730C>G	4.37:g.71201486C>G	ENSP00000273936:p.Leu244Val		86	0	0		69	0.22	15	NM_033122	0		0	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	C	7.934	0.741375	0.15642	.	.	ENSG00000145309	ENST00000273936	T	0.38887	1.11	4.01	-3.6	0.04570	.	0.000000	0.32533	N	0.005967	T	0.43875	0.1267	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.42916	-0.9423	10	0.31617	T	0.26	-18.1413	10.0362	0.42131	0.0:0.509:0.0:0.491	.	244	Q96KC9	CABS1_HUMAN	V	244	ENSP00000273936:L244V	ENSP00000273936:L244V	L	+	1	2	CABS1	71236075	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	-1.020000	0.03618	-0.764000	0.04651	-0.137000	0.14449	CTA			0.413	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251561.3		NM_033122		G	71201486	C	G	71201486	3	3	84	1	0	0	0	0	1	0	0	0	2267	680	24	5	732	5	C4orf35	4	71201486	Missense_Mutation	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10		71201486	119952790	14	5903											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	CAC	CAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																					p.439_439del													.	NKD2	39		0			c.1315_1317del																																									SO:0001651	inframe_deletion	85409	exon10			CACGAGCACCACC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del		7	0	0		8	0.38	3	NM_033120	62	0	0	Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	CCDS3859.1																																																																																					0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000206720.2		NM_033120		-	1038449	CAC	-	1038447	7	5	84	1	0	1	0	1	0	0	0	0	10459	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-4K-AA1I-01A-11D-A435-10		1038447	179876813	15	5904											
CEP120	153241	mdanderson.org	37	chr5	122729128	122729128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtaacatcatttcccaGtaaagagtagtaaaagaaaa	19	11	6	5	0	1	2	1	0	0	2	2	2	2	2	1	0	1	4	1	0	8	6			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr5:122729128G>T	ENST00000306467.5	-	6	980	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	CEP120_ENST00000306481.6_Missense_Mutation_p.L200M|CEP120_ENST00000395431.2_Missense_Mutation_p.L226M|CEP120_ENST00000328236.5_Missense_Mutation_p.L226M			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	226					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TCATTTCCCAGTAAAGAGTAG	0.353																																					p.L226M													.	.			0			c.C676A												121	119	120					5																	122729128		1826	4083	5909	SO:0001583	missense	153241	exon7			TTCCCAGTAAAGA	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.676C>A	5.37:g.122729128G>T	ENSP00000303058:p.Leu226Met		77	0	0		87	0.05	4	NM_153223	20	0	0	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113755	0.56398	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.59638	1.58;1.58;1.58;0.25	5.69	2.94	0.34122	.	0.000000	0.64402	D	0.000003	T	0.68604	0.3019	L	0.58669	1.825	0.47123	D	0.999325	D	0.89917	1.0	D	0.91635	0.999	T	0.64198	-0.6464	10	0.38643	T	0.18	-10.1919	10.5241	0.44936	0.3215:0.0:0.6785:0.0	.	226	Q8N960	CE120_HUMAN	M	226;226;200;200;226	ENSP00000303058:L226M;ENSP00000327504:L226M;ENSP00000307419:L200M;ENSP00000421620:L200M	ENSP00000303058:L226M	L	-	1	2	CEP120	122757027	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.067000	0.41461	0.342000	0.23796	0.591000	0.81541	CTG			0.353	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250899.2		NM_153223		T	122729128	G	T	122729128	3	4	84	1	0	0	0	0	1	0	0	0	3248	1020	36	3	2344	3	CEP120	5	122729128	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	121690681	122729128	58186132	16	5905											
AARS2	202500	broad.mit.edu;mdanderson.org	37	chr6	44268395	44268395	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgccttgccccccatGtggctgcacactgccagtgc	5	7	9	20	1	0	0	0	0	0	0	0	0	0	0	7	1	4	2	7	1	0	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr6:44268395G>A	ENST00000371505.4	-	0	0				TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'Flank|AARS2_ENST00000244571.4_Silent_p.H949H|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1											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)			TGCCCCCCATGTGGCTGCACA	0.617																																					p.H949H													.	AARS2	77		0			c.C2847T												64	56	59					6																	44268395		2203	4300	6503	SO:0001631	upstream_gene_variant	57505	exon22			CCCCATGTGGCTG	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		6.37:g.44268395G>A	Exception_encountered		51	0	0		55	0.15	8	NM_020745	114	0.23	26	B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	CCDS4910.1																																																																																					0.617	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040736.1		NM_182539		A	44268395	G	A	44268395	1	1	84	0	1	0	0	0	0	0	0	0	20	1368	48	3		3	AARS2	6	44268395	5'Flank	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10		44268395	126846672	17	5906											
LPA	4018	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	160958956	160958956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtagtctggggatggcaGacaagctggcattactttgt	9	12	13	7	0	1	1	0	0	1	1	1	2	1	2	0	4	2	4	0	4	3	3			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr6:160958956G>A	ENST00000316300.5	-	37	5817	c.5773C>T	c.(5773-5775)Ctg>Ttg	p.L1925L	LPA_ENST00000447678.1_Silent_p.L1925L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4433	Kringle 17. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGGATGGCAGACAAGCTGGC	0.498																																					p.L1925L													.	LPA	237		0			c.C5773T												110	108	108					6																	160958956		2203	4300	6503	SO:0001819	synonymous_variant	4018	exon38			ATGGCAGACAAGC	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5773C>T	6.37:g.160958956G>A			161	0	0		127	0.05	6	NM_005577	0		0	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																					0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042957.1		NM_005577		A	160958956	G	A	160958956	2	1	84	1	0	0	0	0	0	0	0	1	8919	933	33	3		3	LPA	6	160958956	Silent	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	116690561	160958956	10156111	18	5907											
ADCY1	107	mdanderson.org	37	chr7	45614334	45614334	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcggccacgctgaaggcGctggccgttctcagcctgct	5	7	14	15	4	1	1	1	1	1	0	2	1	1	1	3	4	2	4	3	4	1	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr7:45614334G>A	ENST00000297323.7	+	1	214	c.192G>A	c.(190-192)gcG>gcA	p.A64A	ADCY1_ENST00000432715.1_Intron	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	64					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)	CGCTGAAGGCGCTGGCCGTTC	0.771																																					p.A64A													.	.			0			c.G192A												1	1	1					7																	45614334		432	961	1393	SO:0001819	synonymous_variant	107	exon1			GAAGGCGCTGGCC	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.192G>A	7.37:g.45614334G>A			16	0	0		13	0.15	2	NM_021116	0		0	A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	CCDS34631.1																																																																																					0.771	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340055.2		NM_021116		A	45614334	G	A	45614334	2	1	84	1	0	0	0	0	0	0	0	1	292	1074	38	1		1	ADCY1	7	45614334	Silent	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10		45614334	113524329	19	5908											
PKHD1L1	93035	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	110509211	110509211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaggtttatatgggatctAtatgaaccaagatggccttc	11	13	11	6	0	1	2	0	1	1	1	2	4	1	4	2	4	1	1	2	4	6	6			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr8:110509211A>G	ENST00000378402.5	+	64	10495	c.10391A>G	c.(10390-10392)tAt>tGt	p.Y3464C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3464					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)			TATGGGATCTATATGAACCAA	0.378										HNSCC(38;0.096)																											p.Y3464C													PKHD1L1,NS,carcinoma,+1,1	PKHD1L1	1	1	0			c.A10391G												160	151	154					8																	110509211		1818	4084	5902	SO:0001583	missense	93035	exon64			GGATCTATATGAA	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.10391A>G	8.37:g.110509211A>G	ENSP00000367655:p.Tyr3464Cys		138	0	0		163	0.05	8	NM_177531	0		0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.904503	0.72868	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;T	0.81739	-1.53;-1.43	5.64	5.64	0.86602	Pectin lyase fold/virulence factor (1);	0.000000	0.64402	D	0.000001	D	0.88343	0.6411	M	0.72479	2.2	0.41399	D	0.987665	D	0.76494	0.999	D	0.81914	0.995	D	0.89090	0.3482	10	0.54805	T	0.06	.	13.8179	0.63303	1.0:0.0:0.0:0.0	.	3464	Q86WI1	PKHL1_HUMAN	C	3464;392	ENSP00000367655:Y3464C;ENSP00000437376:Y392C	ENSP00000367655:Y3464C	Y	+	2	0	PKHD1L1	110578387	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	4.264000	0.58859	2.152000	0.67230	0.528000	0.53228	TAT			0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381017.1		NM_177531		G	110509211	A	G	110509211	3	3	84	1	0	0	0	0	1	0	0	0	11989	449	16	4	10645	4	PKHD1L1	8	110509211	Missense_Mutation	SNP	A	TCGA-4K-AA1I-01A-11D-A435-10		110509211	35854811	20	5909											
COL14A1	7373	bcgsc.ca	37	chr8	121344415	121344415	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggatcctcgggacctccAggaccaccagggccaatagt	10	6	12	13	1	0	0	0	0	0	0	3	4	2	3	6	4	0	0	6	4	2	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr8:121344415A>G	ENST00000297848.3	+	41	4965	c.4695A>G	c.(4693-4695)ccA>ccG	p.P1565P	COL14A1_ENST00000247781.3_Silent_p.P1470P|COL14A1_ENST00000309791.4_Silent_p.P1565P	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)			CGGGACCTCCAGGACCACCAG	0.468																																					p.P1565P													.	COL14A1	292		0			c.A4695G												77	77	77					8																	121344415		2203	4300	6503	SO:0001819	synonymous_variant	7373	exon41			ACCTCCAGGACCA		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.4695A>G	8.37:g.121344415A>G			150	0	0		156	0.04	6	NM_021110	71	0	0		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																					0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313657.2		NM_021110		G	121344415	A	G	121344415	2	3	84	1	0	0	0	0	0	0	0	1	3673	175	7	4		4	COL14A1	8	121344415	Silent	SNP	A	TCGA-4K-AA1I-01A-11D-A435-10	10835204	121344415	25019607	21	5910											
CPSF1	29894	mdanderson.org	37	chr8	145623295	145623295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acataggggtcggccacggcGcactgcacgatgggggcgcc	7	4	17	13	5	0	0	0	0	0	0	1	1	0	0	2	6	1	2	2	6	1	1	rs150747740	byFrequency	TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr8:145623295G>A	ENST00000349769.3	-	20	2041	c.1947C>T	c.(1945-1947)tgC>tgT	p.C649C	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	649					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGGCCACGGCGCACTGCACGA	0.657																																					p.C649C	NSCLC(133;1088 1848 27708 34777 35269)												.	.			0			c.C1947T							G		0,4406		0,0,2203	40	38	39		1947	-10.9	0.1	8	dbSNP_134	39	3,8591	3.0+/-9.4	0,3,4294	no	coding-synonymous	CPSF1	NM_013291.2		0,3,6497	AA,AG,GG		0.0349,0.0,0.0231		649/1444	145623295	3,12997	2203	4297	6500	SO:0001819	synonymous_variant	29894	exon20			CACGGCGCACTGC	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1947C>T	8.37:g.145623295G>A			74	0	0		50	0.06	3	NM_013291	93	0	0	Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																			0.001		0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291		A	145623295	G	A	145623295	2	1	84	1	0	0	0	0	0	0	0	1	3826	1079	38	1		1	CPSF1	8	145623295	Silent	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	24278880	145623295	740727	22	5911											
ALDOB	229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	104187142	104187142	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccatggcccgcttcataaAagcctcctgggttgcctcct	7	11	8	15	1	1	0	1	0	0	0	3	0	3	0	6	2	3	2	6	2	3	4			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr9:104187142A>C	ENST00000374855.4	-	8	1106	c.982T>G	c.(982-984)Ttt>Gtt	p.F328V	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	328					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)				CGCTTCATAAAAGCCTCCTGG	0.522																																					p.F328V													.	.			0			c.T982G												110	106	107					9																	104187142		2203	4300	6503	SO:0001583	missense	229	exon8			TCATAAAAGCCTC	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.982T>G	9.37:g.104187142A>C	ENSP00000363988:p.Phe328Val		192	0	0		188	0.17	32	NM_000035	0		0	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.943662	0.92593	.	.	ENSG00000136872	ENST00000374855	D	0.85955	-2.05	5.63	5.63	0.86233	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.93635	0.7967	M	0.84846	2.72	0.80722	D	1	B	0.33299	0.407	P	0.60609	0.877	D	0.93731	0.7041	10	0.87932	D	0	-5.5432	15.3176	0.74092	1.0:0.0:0.0:0.0	.	328	P05062	ALDOB_HUMAN	V	328	ENSP00000363988:F328V	ENSP00000363988:F328V	F	-	1	0	ALDOB	103226963	1.000000	0.71417	0.892000	0.35008	0.980000	0.70556	9.287000	0.95975	2.271000	0.75665	0.459000	0.35465	TTT			0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053434.2				C	104187142	A	C	104187142	3	2	84	1	0	0	0	0	1	0	0	0	508	14	1	4	120	4	ALDOB	9	104187142	Missense_Mutation	SNP	A	TCGA-4K-AA1I-01A-11D-A435-10		104187142	37026289	23	5912											
DDIT4	54541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	74034751	74034751	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctggcactcgaccccagCctggtgcccaccttccagct	6	7	9	19	1	0	0	0	0	0	0	2	1	1	0	6	2	4	3	6	2	0	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr10:74034751C>T	ENST00000307365.3	+	3	705	c.504C>T	c.(502-504)agC>agT	p.S168S	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	168					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TCGACCCCAGCCTGGTGCCCA	0.687											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S168S													.	.			0			c.C504T												27	28	28					10																	74034751		2202	4300	6502	SO:0001819	synonymous_variant	54541	exon3			CCCCAGCCTGGTG	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.504C>T	10.37:g.74034751C>T			72	0	0	1149	66	0.11	7	NM_019058	401	0.19	78	Q9H0S3	Silent	SNP	ENST00000307365.3	37	CCDS7315.1																																																																																					0.687	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048577.1		NM_019058		T	74034751	C	T	74034751	2	4	84	1	0	0	0	0	0	0	0	1	4333	738	26	2		2	DDIT4	10	74034751	Silent	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10		74034751	61499996	24	5913											
AP2A2	161	mdanderson.org	37	chr11	988573	988573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcgggacgtgagcgtgCggcagcgggccgtggacctc	5	5	19	12	6	0	2	0	2	0	0	1	4	0	4	2	4	4	1	2	4	0	0			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr11:988573C>T	ENST00000448903.2	+	10	1294	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	AP2A2_ENST00000332231.5_Missense_Mutation_p.R386W|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	385					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)		CGTGAGCGTGCGGCAGCGGGC	0.642																																					p.R386W													.	.			0			c.C1156T												116	128	124					11																	988573		2184	4278	6462	SO:0001583	missense	161	exon10			AGCGTGCGGCAGC	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.1153C>T	11.37:g.988573C>T	ENSP00000413234:p.Arg385Trp		43	0	0		35	0.09	3	NM_001242837	61	0	0	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339255	0.81911	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.56444	0.46;0.46	3.93	2.99	0.34606	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.84036	0.0362	10	0.87932	D	0	-4.9461	12.333	0.55049	0.3042:0.6958:0.0:0.0	.	386;385	O94973-2;O94973	.;AP2A2_HUMAN	W	385;386;386;122;125	ENSP00000413234:R385W;ENSP00000327694:R386W	ENSP00000327694:R386W	R	+	1	2	AP2A2	978573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.367000	0.44213	0.924000	0.37069	0.555000	0.69702	CGG			0.642	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000385431.2		NM_012305		T	988573	C	T	988573	3	4	84	1	0	0	0	0	1	0	0	0	740	759	27	1	1191	1	AP2A2	11	988573	Missense_Mutation	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10		988573	134017943	25	5914											
MTL5	9633	mdanderson.org	37	chr11	68483337	68483337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgttcaatatcatgatGcaagttgttgcaacaattat	15	13	6	7	1	2	1	2	1	0	0	2	1	2	1	1	0	4	5	1	0	7	5			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr11:68483337G>T	ENST00000255087.5	-	7	1171	c.988C>A	c.(988-990)Cat>Aat	p.H330N		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	330	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ATATCATGATGCAAGTTGTTG	0.363																																					p.H330N													.	.			0			c.C988A												100	85	90					11																	68483337		2200	4294	6494	SO:0001583	missense	9633	exon7			CATGATGCAAGTT	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.988C>A	11.37:g.68483337G>T	ENSP00000255087:p.His330Asn		65	0.0153846154	1		52	0.06	3	NM_004923	2	0	0	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894236	0.33442	.	.	ENSG00000132749	ENST00000255087	T	0.28255	1.62	5.34	4.37	0.52481	Tesmin/TSO1-like, CXC (1);	0.592830	0.17259	N	0.180857	T	0.14570	0.0352	N	0.03154	-0.405	0.46654	D	0.999147	B	0.20459	0.045	B	0.26693	0.072	T	0.10636	-1.0621	10	0.30078	T	0.28	-10.1075	9.6801	0.40065	0.0:0.1521:0.691:0.1569	.	330	Q9Y4I5	MTL5_HUMAN	N	330	ENSP00000255087:H330N	ENSP00000255087:H330N	H	-	1	0	MTL5	68239913	0.254000	0.23992	0.007000	0.13788	0.862000	0.49288	2.752000	0.47516	2.498000	0.84270	0.655000	0.94253	CAT			0.363	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396844.1		NM_004923		T	68483337	G	T	68483337	3	4	84	1	0	0	0	0	1	0	0	0	9952	1319	46	2	554	2	MTL5	11	68483337	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	67494764	68483337	66523179	26	5915											
MYO7A	4647	mdanderson.org	37	chr11	76867113	76867113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacatgaaacgcaacaGccgagaccagtgctgcatca	14	6	8	13	2	2	2	2	1	0	1	2	3	2	2	2	0	6	3	2	0	3	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr11:76867113G>T	ENST00000409709.3	+	5	718	c.446G>T	c.(445-447)aGc>aTc	p.S149I	MYO7A_ENST00000409893.1_Missense_Mutation_p.S149I|MYO7A_ENST00000409619.2_Missense_Mutation_p.S138I|MYO7A_ENST00000458637.2_Missense_Mutation_p.S149I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	149	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						AAACGCAACAGCCGAGACCAG	0.562																																					p.S149I													MYO7A,NS,carcinoma,+1,1	MYO7A	1	1	0			c.G446T												43	45	44					11																	76867113		2041	4193	6234	SO:0001583	missense	4647	exon5			GCAACAGCCGAGA	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.446G>T	11.37:g.76867113G>T	ENSP00000386331:p.Ser149Ile		71	0	0		47	0.06	3	NM_001127180	3	0	0	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	g	15.08	2.726574	0.48833	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.27	4.11	0.48088	Myosin head, motor domain (2);	0.122439	0.56097	D	0.000028	T	0.66015	0.2747	M	0.69358	2.11	0.31434	N	0.672773	B;B;B	0.23806	0.091;0.004;0.005	B;B;B	0.29440	0.102;0.038;0.049	T	0.68146	-0.5486	10	0.59425	D	0.04	.	5.5192	0.16923	0.4146:0.0:0.5853:0.0	.	149;149;149	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	I	149;149;149;138;148;148;148;148	ENSP00000386331:S149I;ENSP00000386689:S149I;ENSP00000392185:S149I;ENSP00000386635:S138I	ENSP00000345075:S148I	S	+	2	0	MYO7A	76544761	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.062000	0.49971	1.111000	0.41721	0.586000	0.80456	AGC			0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000328133.1		NM_000260		T	76867113	G	T	76867113	3	4	84	1	0	0	0	0	1	0	0	0	10098	971	34	2	460	2	MYO7A	11	76867113	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	8383776	76867113	58139403	27	5916											
ERC1	23085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	1291122	1291122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgcttaaaggagcagaGggacagagatgagcgagaga	16	4	16	5	2	0	5	0	2	0	3	0	10	0	7	0	2	3	2	0	2	3	1	rs200296939		TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr12:1291122G>C	ENST00000397203.2	+	10	2313	c.1907G>C	c.(1906-1908)aGg>aCg	p.R636T	ERC1_ENST00000589028.1_Missense_Mutation_p.R636T|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Missense_Mutation_p.R636T|ERC1_ENST00000543086.3_Missense_Mutation_p.R608T|ERC1_ENST00000355446.5_Missense_Mutation_p.R636T|ERC1_ENST00000360905.4_Missense_Mutation_p.R636T			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	636					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)			AAGGAGCAGAGGGACAGAGAT	0.393																																					p.R636T													.	.			0			c.G1907C												70	69	70					12																	1291122		2203	4300	6503	SO:0001583	missense	23085	exon10			AGCAGAGGGACAG	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.1907G>C	12.37:g.1291122G>C	ENSP00000380386:p.Arg636Thr		166	0	0		184	0.07	13	NM_178040	35	0.26	9	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618899	0.87460	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.984;0.997;0.997;0.994	D;P;D;D;D	0.69479	0.955;0.888;0.917;0.917;0.964	T	0.75150	-0.3419	10	0.21014	T	0.42	-14.5487	18.5152	0.90933	0.0:0.0:1.0:0.0	.	384;276;608;608;636	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	T	608;636;608;608;336;608;608;336;636;636;636;608;384;276	ENSP00000340054:R608T;ENSP00000380386:R636T;ENSP00000438546:R608T;ENSP00000442976:R336T;ENSP00000442739:R636T;ENSP00000347621:R636T;ENSP00000354158:R636T;ENSP00000410064:R608T	ENSP00000299183:R336T	R	+	2	0	ERC1	1161383	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.869000	0.99810	2.380000	0.81148	0.655000	0.94253	AGG			0.393	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064		C	1291122	G	C	1291122	3	2	84	1	0	0	0	0	1	0	0	0	5217	1000	35	5	1941	5	ERC1	12	1291122	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10		1291122	132560773	28	5917											
PABPC3	5042	hgsc.bcm.edu	37	chr13	25671967	25671967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactttgactgcctccaGgttggcatctgcccctcctc	6	11	9	15	0	1	1	0	1	1	0	4	2	3	2	5	3	3	2	5	3	1	2			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr13:25671967G>T	ENST00000281589.3	+	1	1668	c.1631G>T	c.(1630-1632)aGg>aTg	p.R544M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	544	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				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)		ACTGCCTCCAGGTTGGCATCT	0.473																																					p.R544M													.	.			0			c.G1631T												103	96	98					13																	25671967		2203	4300	6503	SO:0001583	missense	5042	exon1			CCTCCAGGTTGGC	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.1631G>T	13.37:g.25671967G>T	ENSP00000281589:p.Arg544Met		78	0	0		82	0.05	4	NM_030979	3	1	3	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.144124	0.00029	.	.	ENSG00000151846	ENST00000281589	T	0.39229	1.09	0.875	-0.617	0.11579	Polyadenylate-binding protein/Hyperplastic disc protein (4);	0.097289	0.41823	N	0.000817	T	0.04724	0.0128	N	0.00020	-2.765	0.22489	N	0.99906	B	0.02656	0.0	B	0.01281	0.0	T	0.44742	-0.9308	10	0.02654	T	1	.	5.0095	0.14304	0.0:0.0:0.3097:0.6903	.	544	Q9H361	PABP3_HUMAN	M	544	ENSP00000281589:R544M	ENSP00000281589:R544M	R	+	2	0	PABPC3	24569967	1.000000	0.71417	0.879000	0.34478	0.018000	0.09664	3.843000	0.55865	-0.179000	0.10654	-0.875000	0.02981	AGG			0.473	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044220.2		NM_030979		T	25671967	G	T	25671967	3	4	84	1	0	0	0	0	1	0	0	0	11382	1000	35	3	1633	3	PABPC3	13	25671967	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10		25671967	89497911	29	5918											
POTEG	404785	broad.mit.edu	37	chr14	19553750	19553750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccctgctgcagggggAgcggcaagagcaaagtgggc	8	5	17	11	1	0	1	0	0	0	1	1	2	1	2	2	4	4	5	2	4	2	1	rs537237834		TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr14:19553750A>G	ENST00000409832.3	+	1	386	c.334A>G	c.(334-336)Agc>Ggc	p.S112G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	112										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGCAGGGGGAGCGGCAAGAG	0.597													A|||	1	0.000199681	0	0.0014	5008	,	,		63351	0		0	False		,,,				2504	0				p.S112G													.	POTEG	118		0			c.A334G												318	348	338					14																	19553750		2201	4298	6499	SO:0001583	missense	404785	exon1			AGGGGGAGCGGCA		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.334A>G	14.37:g.19553750A>G	ENSP00000386971:p.Ser112Gly		1172	0.002559727	3		1187	0.01	6	NM_001005356	0		0	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	6.097	0.386241	0.11524	.	.	ENSG00000222036	ENST00000409832	T	0.28454	1.61	0.568	-0.801	0.10893	.	.	.	.	.	T	0.23846	0.0577	L	0.50333	1.59	0.09310	N	1	B	0.22276	0.067	B	0.24006	0.05	T	0.26780	-1.0093	8	0.40728	T	0.16	.	.	.	.	.	112	Q6S5H5	POTEG_HUMAN	G	112	ENSP00000386971:S112G	ENSP00000386971:S112G	S	+	1	0	POTEG	18623750	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.653000	0.05360	-0.370000	0.08016	0.335000	0.21663	AGC			0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408579.1		NM_001005356		G	19553750	A	G	19553750	3	3	84	1	0	0	0	0	1	0	0	0	12283	304	11	4	336	4	POTEG	14	19553750	Missense_Mutation	SNP	A	TCGA-4K-AA1I-01A-11D-A435-10		19553750	87795790	30	5919											
CHGA	1113	broad.mit.edu;mdanderson.org	37	chr14	93398975	93398975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagctgacggctgagaagCggctggaggggcaggaggag	10	3	22	6	2	0	2	0	2	0	1	0	7	0	6	0	8	2	4	0	8	1	0	rs546878181|rs200576557		TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr14:93398975C>T	ENST00000216492.5	+	7	1349	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	CHGA_ENST00000334654.4_Missense_Mutation_p.R206W	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	357					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GGCTGAGAAGCGGCTGGAGGG	0.662																																					p.R357W	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												.	CHGA	32		0			c.C1069T												23	17	19					14																	93398975		2193	4296	6489	SO:0001583	missense	1113	exon7			GAGAAGCGGCTGG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1069C>T	14.37:g.93398975C>T	ENSP00000216492:p.Arg357Trp		40	0	0		23	0.13	3	NM_001275	25	0	0	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920006	0.52653	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01838	4.61;4.61	4.51	3.61	0.41365	.	0.543426	0.17573	N	0.169386	T	0.06325	0.0163	L	0.45137	1.4	0.34367	D	0.69163	D;D	0.89917	1.0;0.976	D;P	0.74674	0.984;0.464	T	0.40156	-0.9578	10	0.39692	T	0.17	-15.6645	6.8095	0.23796	0.1767:0.7335:0.0:0.0898	.	206;357	G5E968;P10645	.;CMGA_HUMAN	W	357;206	ENSP00000216492:R357W;ENSP00000334023:R206W	ENSP00000216492:R357W	R	+	1	2	CHGA	92468728	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	1.098000	0.31000	0.845000	0.35118	-0.324000	0.08512	CGG			0.662	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412411.1		NM_001275		T	93398975	C	T	93398975	3	4	84	1	0	0	0	0	1	0	0	0	3340	759	27	1	1095	1	CHGA	14	93398975	Missense_Mutation	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10	73845225	93398975	13950565	31	5920											
EVL	51466	mdanderson.org	37	chr14	100593108	100593108	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaacctcggccacaGgtgagagccctcctccccta	12	5	9	15	1	0	3	0	1	0	3	3	4	2	3	6	2	2	0	6	2	4	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr14:100593108G>T	ENST00000402714.2	+	5	1085	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	EVL_ENST00000392920.3_Splice_Site_p.G163W|EVL_ENST00000544450.2_Splice_Site_p.G167W			Q9UI08	EVL_HUMAN	Enah/Vasp-like	161					actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CTCGGCCACAGGTGAGAGCCC	0.612																																					p.G163W													.	.			0			c.G487T												78	78	78					14																	100593108		2203	4300	6503	SO:0001630	splice_region_variant	51466	exon5			GCCACAGGTGAGA	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.481+1G>T	14.37:g.100593108G>T			27	0	0		45	0.07	3	NM_016337	130	0	0	A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37		.	.	.	.	.	.	.	.	.	.	G	24.2	4.504266	0.85176	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000557153;ENST00000557384	T;T;T;T;T	0.71698	-0.55;-0.58;-0.55;-0.59;0.84	4.98	4.98	0.66077	.	0.138361	0.48767	D	0.000163	D	0.83394	0.5245	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.98;0.999	D	0.84974	0.0884	10	0.62326	D	0.03	-10.2596	17.2131	0.86935	0.0:0.0:1.0:0.0	.	167;163;161	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	W	161;167;163;163;148;57	ENSP00000384720:G161W;ENSP00000437904:G167W;ENSP00000376652:G163W;ENSP00000452327:G148W;ENSP00000450979:G57W	ENSP00000376652:G163W	G	+	1	0	EVL	99662861	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.883000	0.75595	2.468000	0.83385	0.655000	0.94253	GGG			0.612	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000413958.1			Missense_Mutation	T	100593108	G	T	100593108	5	4	84	1	0	0	0	0	0	0	1	0	5298	1014	35	3	505	3	EVL	14	100593108	Splice_Site	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	7194133	100593108	6756432	32	5921											
MYO5A	4644	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	52671830	52671830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcattctcaccagtatcaGtttctctaacacattcttgc	11	15	3	12	0	5	0	3	0	3	0	7	0	5	0	1	0	2	2	1	0	3	6			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr15:52671830G>A	ENST00000399231.3	-	18	2443	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	MYO5A_ENST00000356338.6_Silent_p.L734L|MYO5A_ENST00000399233.2_Silent_p.L734L|MYO5A_ENST00000553916.1_Silent_p.L734L|MYO5A_ENST00000358212.6_Silent_p.L734L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	734	Myosin motor.				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)		ACCAGTATCAGTTTCTCTAAC	0.433																																					p.L734L													.	.			0			c.C2200T												155	148	151					15																	52671830		1912	4148	6060	SO:0001819	synonymous_variant	4644	exon18			GTATCAGTTTCTC		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.2200C>T	15.37:g.52671830G>A			106	0	0		138	0.07	9	NM_000259	50	0.16	8	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	CCDS42037.1																																																																																					0.433	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268102.1		NM_000259		A	52671830	G	A	52671830	2	1	84	1	0	0	0	0	0	0	0	1	10094	1020	36	3		3	MYO5A	15	52671830	Silent	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10		52671830	49859562	33	5922											
ADPGK	83440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	73044820	73044820	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctctctgtgccattctacTactggcttgtttgggtttaa	5	17	8	11	0	2	0	0	0	2	0	3	0	2	0	2	2	3	3	2	2	3	7			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr15:73044820T>C	ENST00000311669.8	-	7	1446	c.1353A>G	c.(1351-1353)gtA>gtG	p.V451V	ADPGK_ENST00000456471.2_Silent_p.V177V	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	452	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GCCATTCTACTACTGGCTTGT	0.507																																					p.V451V													.	.			0			c.A1353G												105	105	105					15																	73044820		1894	4113	6007	SO:0001819	synonymous_variant	83440	exon7			TTCTACTACTGGC	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1353A>G	15.37:g.73044820T>C			156	0	0		164	0.1	17	NM_031284	154	0.17	26	Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Silent	SNP	ENST00000311669.8	37	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	T	2.561	-0.301815	0.05495	.	.	ENSG00000159322	ENST00000331065	.	.	.	5.84	-11.7	0.00046	.	.	.	.	.	T	0.19167	0.0460	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12268	-1.0554	5	0.06099	T	0.92	-26.3022	5.5851	0.17269	0.1436:0.5544:0.2295:0.0725	.	.	.	.	G	329	.	ENSP00000332964:S329G	S	-	1	0	ADPGK	70831873	0.000000	0.05858	0.001000	0.08648	0.440000	0.31957	-2.435000	0.01020	-2.379000	0.00595	-1.148000	0.01847	AGT			0.507	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000420434.1		NM_031284		C	73044820	T	C	73044820	2	2	84	1	0	0	0	0	0	0	0	1	330	1509	53	4		4	ADPGK	15	73044820	Silent	SNP	T	TCGA-4K-AA1I-01A-11D-A435-10	20372990	73044820	29486572	34	5923											
C16orf89	146556	mdanderson.org	37	chr16	5112523	5112523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccccacgcgcaggctcagCggctgcagcaggggctcctg	6	5	14	16	3	1	0	1	0	0	0	3	0	3	0	3	4	3	6	3	4	0	0			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr16:5112523C>T	ENST00000315997.5	-	2	462	c.261G>A	c.(259-261)ccG>ccA	p.P87P	C16orf89_ENST00000474471.3_Silent_p.P87P|C16orf89_ENST00000422873.1_Silent_p.P125P|C16orf89_ENST00000350219.4_Silent_p.P125P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Silent_p.P87P	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	87						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCAGGCTCAGCGGCTGCAGCA	0.567																																					p.P87P													C16orf89_ENST00000422873,NS,carcinoma,-1,3	C16orf89_ENST00000422873	-1	3	0			c.G261A												54	58	57					16																	5112523		1936	4146	6082	SO:0001819	synonymous_variant	146556	exon2			GCTCAGCGGCTGC		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.261G>A	16.37:g.5112523C>T			92	0	0		83	0.05	4	NM_001098514	1	0	0	B4DUM5|Q8N2I3|Q8N4T1	Silent	SNP	ENST00000315997.5	37	CCDS42116.2																																																																																					0.567	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000354524.1		NM_152459		T	5112523	C	T	5112523	2	4	84	1	0	0	0	0	0	0	0	1	1844	755	27	1		1	C16orf89	16	5112523	Silent	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10		5112523	85242230	35	5924											
SLC12A3	6559	mdanderson.org	37	chr16	56906331	56906331	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttagtggggacgctgatcccCccatctgaggacaaggcctc	8	8	12	13	1	1	2	0	2	1	0	3	4	2	4	4	4	0	1	4	4	2	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr16:56906331C>A	ENST00000563236.1	+	7	946	c.921C>A	c.(919-921)ccC>ccA	p.P307P	SLC12A3_ENST00000438926.2_Silent_p.P307P|SLC12A3_ENST00000262502.5_Silent_p.P306P|SLC12A3_ENST00000566786.1_Silent_p.P306P			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	307					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)	CGCTGATCCCCCCATCTGAGG	0.582																																					p.P307P													.	.			0			c.C921A												91	82	85					16																	56906331		2198	4300	6498	SO:0001819	synonymous_variant	6559	exon7			GATCCCCCCATCT		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.921C>A	16.37:g.56906331C>A			59	0	0		40	0.08	3	NM_001126108	8	0	0	A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																					0.582	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000432337.1				A	56906331	C	A	56906331	2	1	84	1	0	0	0	0	0	0	0	1	14407	610	22	3		3	SLC12A3	16	56906331	Silent	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10	51793808	56906331	33448422	36	5925											
TSNAXIP1	80152	mdanderson.org	37	chr16	67860079	67860079	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctgggggcccagagcGctggcagatgctggctgagg	5	6	21	9	1	0	3	0	1	0	2	0	3	0	3	1	7	2	5	1	7	0	0			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr16:67860079G>A	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.R336H|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R321H|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R390H	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						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)		GGCCCAGAGCGCTGGCAGATG	0.647																																					p.R336H													.	.			0			c.G1007A												34	38	36					16																	67860079		2198	4300	6498	SO:0001628	intergenic_variant	55815	exon10			CAGAGCGCTGGCA	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			16.37:g.67860079G>A			46	0	0		42	0.07	3	NM_018430	1	0	0	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752065	0.69533	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.79476	0.4452	M	0.70275	2.135	0.51233	D	0.99991	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;0.999;0.999;0.999	T	0.80228	-0.1469	9	0.87932	D	0	-12.2292	18.1584	0.89701	0.0:0.0:1.0:0.0	.	321;390;126;44;336;321	E7ENJ7;B4DXD0;B4DY78;Q2TAA8-2;Q2TAA8;B4E1H3	.;.;.;.;TXIP1_HUMAN;.	H	321;336;126	.	ENSP00000373485:R336H	R	+	2	0	TSNAXIP1	66417580	1.000000	0.71417	0.998000	0.56505	0.461000	0.32589	4.377000	0.59562	2.825000	0.97269	0.655000	0.94253	CGC			0.647	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422020.1		NM_025082		A	67860079	G	A	67860079	1	1	84	0	1	0	0	0	0	0	0	0	16656	1087	38	1		1	TSNAXIP1	16	67860079	IGR	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	10953748	67860079	22494674	37	5926											
CDC27	996	mdanderson.org	37	chr17	45234325	45234325	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcctcctaataaacttcGaccagtttttggtttatttt	8	19	6	8	1	0	0	0	0	0	0	3	1	2	0	3	2	1	2	3	2	4	9			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr17:45234325G>A	ENST00000066544.3	-	7	889	c.796C>T	c.(796-798)Cga>Tga	p.R266*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.R205*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.R266*|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R266*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATAAACTTCGACCAGTTTTT	0.363																																					p.R266X													.	.			0			c.C796T												60	65	63					17																	45234325		2200	4295	6495	SO:0001587	stop_gained	996	exon7			AACTTCGACCAGT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.796C>T	17.37:g.45234325G>A	ENSP00000066544:p.Arg266*		48	0.0208333333	1		47	0.06	3	NM_001114091	63	0	0	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117088	0.77323	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.	.	.	5.64	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5002	13.5956	0.61987	0.0:0.0:0.8433:0.1567	.	.	.	.	X	266;266;205;266;266	.	ENSP00000066544:R266X	R	-	1	2	CDC27	42589324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.123000	0.71614	1.354000	0.45846	0.460000	0.39030	CGA			0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2				A	45234325	G	A	45234325	4	1	84	1	0	0	0	0	0	1	0	0	3068	1066	37	1	1748	1	CDC27	17	45234325	Nonsense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10		45234325	35960885	38	5927											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	10	10	11	10	0	2	2	2	2	0	0	2	2	2	2	2	3	3	2	2	3	3	4			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000591732.1_5'Flank	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																p.K131R				Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	CANT1,NS,carcinoma,0,1	CANT1	39	1	0			c.A392G												184	181	182					17																	76993313		2203	4300	6503	SO:0001583	missense	124583	exon4			TAGCCCTTTTTCA	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg		139	0	0		119	0.03	3	NM_001159772	50	0	0	B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG			0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437723.2		NM_138793		C	76993313	T	C	76993313	3	2	84	1	0	0	0	0	1	0	0	0	2619	1609	56	4	825	4	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-4K-AA1I-01A-11D-A435-10	31758988	76993313	4201897	39	5928											
ENOSF1	55556	broad.mit.edu	37	chr18	712489	712497	+	Intron	DEL	GGCGTCCGC	GGCGTCCGC	-																															atggcgtccgcgcttaccatGgcgtccgcgcttaccatggc																								rs539018057	byFrequency	TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	GGCGTCCGC	GGCGTCCGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr18:712489_712497delGGCGTCCGC	ENST00000251101.7	-	1	173				ENOSF1_ENST00000340116.7_In_Frame_Del_p.ADA4del|ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000539164.1_Intron|ENOSF1_ENST00000383578.3_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1						cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CGCTTACCATGGCGTCCGCGCTTACCATG	0.703														7	0.00139776	0	0.0043	5008	,	,		16014	0		0.004	False		,,,				2504	0				p.4_6del													.	ENOSF1	44		0			c.10_18del								,,	18,2376		9,0,1188					,,	0.9	0			3	64,4692		28,8,2342	no	coding,intron,intron	ENOSF1	NM_202758.3,NM_017512.5,NM_001126123.3	,,	37,8,3530	A1A1,A1R,RR		1.3457,0.7519,1.1469	,,	,,		82,7068				SO:0001627	intron_variant	55556	exon1			TACCATGGCGTCC	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.84+6GCGGACGCC>-	18.37:g.712489_712497delGGCGTCCGC			10	0	0		8	0.5	4	NM_202758	1	0	0	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	In_Frame_Del	DEL	ENST00000251101.7	37	CCDS11822.1																																																																																					0.703	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254312.2		NM_017512		-	712497	GGCGTCCGC	-	712489	6	5	84	0	1	1	0	1	0	0	0	0	5132	1335	47	0		0	ENOSF1	18	712489	Intron	DEL	GGCGTCCGC	TCGA-4K-AA1I-01A-11D-A435-10		712489	77364759	40	5929											
KLHL14	57565	mdanderson.org	37	chr18	30260557	30260557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accgacatgcatagaaactgGctcttctacaatgaaaagaa	17	8	7	9	1	2	3	0	1	2	2	2	4	2	3	1	1	3	2	1	1	7	3			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr18:30260557G>T	ENST00000359358.4	-	6	1682	c.1244C>A	c.(1243-1245)gCc>gAc	p.A415D		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	415						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						ATAGAAACTGGCTCTTCTACA	0.428																																					p.A415D													.	.			0			c.C1244A												45	42	43					18																	30260557		2203	4300	6503	SO:0001583	missense	57565	exon6			AAACTGGCTCTTC	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.1244C>A	18.37:g.30260557G>T	ENSP00000352314:p.Ala415Asp		50	0	0		50	0.06	3	NM_020805	0		0	A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557057	0.86231	.	.	ENSG00000197705	ENST00000359358	T	0.79033	-1.23	5.57	5.57	0.84162	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	L	0.41492	1.28	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.84419	0.0570	10	0.52906	T	0.07	.	19.9024	0.96993	0.0:0.0:1.0:0.0	.	415	Q9P2G3	KLH14_HUMAN	D	415	ENSP00000352314:A415D	ENSP00000352314:A415D	A	-	2	0	KLHL14	28514555	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.642000	0.83385	2.775000	0.95449	0.650000	0.86243	GCC			0.428	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448376.1				T	30260557	G	T	30260557	3	4	84	1	0	0	0	0	1	0	0	0	8385	1203	42	2	658	2	KLHL14	18	30260557	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	29548068	30260557	47816691	41	5930											
FZR1	51343	mdanderson.org	37	chr19	3525890	3525890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgcggcggaccctgAcgcctgccagctccccagtg	7	5	13	16	3	0	2	0	1	0	1	1	4	1	3	5	2	3	1	5	2	0	0			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr19:3525890A>G	ENST00000395095.3	+	2	94	c.94A>G	c.(94-96)Acg>Gcg	p.T32A	FZR1_ENST00000441788.2_Missense_Mutation_p.T32A|FZR1_ENST00000313639.8_Missense_Mutation_p.T32A	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	32					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)		GCGGACCCTGACGCCTGCCAG	0.647																																					p.T32A													.	.			0			c.A94G												36	36	36					19																	3525890		2203	4298	6501	SO:0001583	missense	51343	exon3			ACCCTGACGCCTG	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.94A>G	19.37:g.3525890A>G	ENSP00000378529:p.Thr32Ala		59	0	0		60	0.05	3	NM_016263	87	0	0	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866936	0.32977	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.07908	3.15;3.15;3.15	4.66	3.63	0.41609	.	0.055339	0.64402	D	0.000001	T	0.07143	0.0181	L	0.35487	1.065	0.27626	N	0.948195	B;B;B	0.20052	0.0;0.041;0.001	B;B;B	0.17433	0.001;0.018;0.006	T	0.15636	-1.0430	10	0.52906	T	0.07	-25.4413	9.4626	0.38794	0.9114:0.0:0.0886:0.0	.	32;32;32	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	A	32	ENSP00000410369:T32A;ENSP00000378529:T32A;ENSP00000321800:T32A	ENSP00000321800:T32A	T	+	1	0	FZR1	3476890	1.000000	0.71417	0.945000	0.38365	0.545000	0.35147	8.755000	0.91646	1.731000	0.51592	0.459000	0.35465	ACG			0.647	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000452869.2		NM_016263		G	3525890	A	G	3525890	3	3	84	1	0	0	0	0	1	0	0	0	6151	275	10	4	100	4	FZR1	19	3525890	Missense_Mutation	SNP	A	TCGA-4K-AA1I-01A-11D-A435-10		3525890	55603093	42	5931											
MAG	4099	mdanderson.org	37	chr19	35800791	35800791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtcgcccctgtgctcCtcctggagtcccactgcgcg	3	9	11	18	3	0	0	0	0	0	0	4	1	3	1	5	1	3	2	5	1	0	0			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr19:35800791C>T	ENST00000392213.3	+	8	1405	c.1246C>T	c.(1246-1248)Ctc>Ttc	p.L416F	MAG_ENST00000537831.2_Missense_Mutation_p.L391F|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Missense_Mutation_p.L416F	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	416	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTGTGCTCCTCCTGGAGTC	0.687																																					p.L416F													.	.			0			c.C1246T												67	75	72					19																	35800791		2203	4299	6502	SO:0001583	missense	4099	exon8			GTGCTCCTCCTGG	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1246C>T	19.37:g.35800791C>T	ENSP00000376048:p.Leu416Phe		36	0	0		25	0.08	2	NM_080600	1	0	0	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976564	0.74360	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13196	2.61;2.61;2.61	5.33	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	L	0.32530	0.975	0.54753	D	0.999981	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.994;0.99;0.997	T	0.00699	-1.1604	10	0.48119	T	0.1	.	13.1496	0.59482	0.0:0.8381:0.1619:0.0	.	453;416;416	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	F	453;416;416;391	ENSP00000355234:L416F;ENSP00000376048:L416F;ENSP00000440695:L391F	ENSP00000262624:L453F	L	+	1	0	MAG	40492631	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.740000	0.47418	2.497000	0.84241	0.462000	0.41574	CTC			0.687	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000466071.1		NM_080600		T	35800791	C	T	35800791	3	4	84	1	0	0	0	0	1	0	0	0	9178	681	24	3	1268	3	MAG	19	35800791	Missense_Mutation	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10	32274901	35800791	23328192	43	5932											
NR1H2	7376	mdanderson.org	37	chr19	50881647	50881647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctttcatgcggcgcaagtgCcagcagtgccggctgcgcaa	7	7	14	13	4	1	0	1	0	0	0	1	0	1	0	2	2	5	5	2	2	2	1			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr19:50881647C>T	ENST00000253727.5	+	5	658	c.423C>T	c.(421-423)tgC>tgT	p.C141C	NR1H2_ENST00000593926.1_Silent_p.C141C|NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Silent_p.C141C|NR1H2_ENST00000598168.1_Silent_p.C141C	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	141					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGCGCAAGTGCCAGCAGTGCC	0.706																																					p.C141C													.	.			0			c.C423T												28	34	32					19																	50881647		2192	4290	6482	SO:0001819	synonymous_variant	7376	exon5			CAAGTGCCAGCAG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.423C>T	19.37:g.50881647C>T			34	0	0		38	0.08	3	NM_007121	112	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																					0.706	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464724.2				T	50881647	C	T	50881647	2	4	84	1	0	0	0	0	0	0	0	1	10634	747	26	2		2	NR1H2	19	50881647	Silent	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10	15080856	50881647	8247336	44	5933											
NLRP5	126206	mdanderson.org	37	chr19	56515190	56515190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatggaaggagacaaatcGctcaccttttccagctacgg	13	8	10	10	2	1	2	1	0	0	2	3	4	2	3	2	3	2	2	2	3	4	3			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr19:56515190G>A	ENST00000390649.3	+	2	171	c.171G>A	c.(169-171)tcG>tcA	p.S57S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	57	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		GAGACAAATCGCTCACCTTTT	0.423																																					p.S57S													NLRP5_ENST00000390649,NS,carcinoma,0,2	NLRP5_ENST00000390649	0	2	0			c.G171A												119	111	113					19																	56515190		1866	4108	5974	SO:0001819	synonymous_variant	126206	exon2			CAAATCGCTCACC	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.171G>A	19.37:g.56515190G>A			71	0	0		46	0.07	3	NM_153447	0		0	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																					0.423	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313735.1		NM_153447		A	56515190	G	A	56515190	2	1	84	1	0	0	0	0	0	0	0	1	10497	1074	38	1		1	NLRP5	19	56515190	Silent	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	5633543	56515190	2613793	45	5934											
RALY	22913	bcgsc.ca;mdanderson.org	37	chr20	32664877	32664877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgccggcggcggcggCggtggtggtggcagcggtgg	1	5	26	9	7	0	0	0	0	0	0	0	0	0	0	1	12	1	1	1	12	0	0	rs539352667	byFrequency	TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chr20:32664877C>T	ENST00000246194.3	+	8	1204	c.702C>T	c.(700-702)ggC>ggT	p.G234G	RALY_ENST00000375114.3_Silent_p.G218G	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	234	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						gcggcggcggcggtggtggtg	0.667																																					p.G234G													.	RALY	44		0			c.C702T												5	7	7					20																	32664877		2080	4086	6166	SO:0001819	synonymous_variant	22913	exon8			CGGCGGCGGTGGT	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.702C>T	20.37:g.32664877C>T			97	0.0103092784	1		83	0.07	6	NM_016732	127	0	0	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Silent	SNP	ENST00000246194.3	37	CCDS13230.1																																																																																					0.667	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078753.1				T	32664877	C	T	32664877	2	4	84	1	0	0	0	0	0	0	0	1	13042	755	27	1		1	RALY	20	32664877	Silent	SNP	C	TCGA-4K-AA1I-01A-11D-A435-10		32664877	30360643	46	5935											
FAM123B	139285	broad.mit.edu	37	chrX	63412939	63412939	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaacctttgctccgTccccctccaaagaaactagg	10	9	6	16	1	0	2	0	0	0	2	4	2	4	2	6	1	3	1	6	1	4	3			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chrX:63412939T>C	ENST00000330258.3	-	2	500	c.228A>G	c.(226-228)ggA>ggG	p.G76G	AMER1_ENST00000374869.3_Silent_p.G76G|AMER1_ENST00000403336.1_Silent_p.G76G	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	76					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTTTGCTCCGTCCCCCTCCAA	0.537																																					p.G76G													.	.			67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.A228G												129	102	111					X																	63412939		2203	4300	6503	SO:0001819	synonymous_variant	139285	exon2			GCTCCGTCCCCCT	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.228A>G	X.37:g.63412939T>C			125	0.008	1		116	0.03	3	NM_152424	0		0	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																					0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316584.1		NM_152424		C	63412939	T	C	63412939	2	2	84	1	0	0	0	0	0	0	0	1	5433	1654	58	4		4	FAM123B	23	63412939	Silent	SNP	T	TCGA-4K-AA1I-01A-11D-A435-10		63412939	91857621	47	5936											
HAUS7	55559	mdanderson.org	37	chrX	152722099	152722099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggtgtcctcgaagtGctccatcaggctgcaaaggc	7	9	11	14	1	1	0	1	0	0	0	5	1	4	0	3	3	2	3	3	3	2	0			TCGA-4K-AA1I-01A-11D-A435-10	TCGA-4K-AA1I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a24cf0ce-23cc-43aa-b3ec-2b7a1ea1ab48	5a404d57-b50b-4e7e-83c5-dff65c2c3465	g.chrX:152722099G>T	ENST00000370211.4	-	6	530	c.487C>A	c.(487-489)Cac>Aac	p.H163N	TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.H163N|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_Missense_Mutation_p.H24N	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	163					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						TCCTCGAAGTGCTCCATCAGG	0.657																																					p.H163N													.	.			0			c.C487A												54	35	42					X																	152722099		2187	4270	6457	SO:0001583	missense	55559	exon6			CGAAGTGCTCCAT	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.487C>A	X.37:g.152722099G>T	ENSP00000359230:p.His163Asn		61	0	0		42	0.07	3	NM_017518	118	0	0	B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	CCDS35438.1	.	.	.	.	.	.	.	.	.	.	G	0.167	-1.074871	0.01903	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000421080;ENST00000370212	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.76	-1.5	0.08691	.	1.350910	0.04839	N	0.440128	T	0.16300	0.0392	L	0.36672	1.1	0.09310	N	1	B;B	0.17465	0.001;0.022	B;B	0.14578	0.003;0.011	T	0.21759	-1.0236	10	0.13108	T	0.6	-3.291	3.0703	0.06229	0.3249:0.0:0.2789:0.3961	.	163;163	Q99871;Q99871-2	HAUS7_HUMAN;.	N	153;163;24;163	ENSP00000359230:H153N;ENSP00000359239:H163N;ENSP00000395447:H24N;ENSP00000359231:H163N	ENSP00000359230:H153N	H	-	1	0	HAUS7	152375293	0.131000	0.22433	0.001000	0.08648	0.818000	0.46254	-0.229000	0.09098	-0.189000	0.10482	0.292000	0.19580	CAC			0.657	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000060963.2		NM_017518		T	152722099	G	T	152722099	3	4	84	1	0	0	0	0	1	0	0	0	6986	1319	46	2	639	2	HAUS7	23	152722099	Missense_Mutation	SNP	G	TCGA-4K-AA1I-01A-11D-A435-10	89309160	152722099	2548461	48	5937											
NOL9	79707	mdanderson.org	37	chr1	6614471	6614471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccggcggcggggccggCggctgaggatgagctggggc	4	3	23	11	6	0	2	0	2	0	0	0	4	0	3	2	9	2	2	2	9	0	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr1:6614471C>T	ENST00000377705.5	-	1	124	c.92G>A	c.(91-93)cGc>cAc	p.R31H	TAS1R1_ENST00000351136.3_5'Flank|TAS1R1_ENST00000333172.6_5'Flank|TAS1R1_ENST00000328191.4_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	31					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		gcggggccggcggcTGAGGAT	0.736																																					p.R31H													.	.			0			c.G92A												5	7	6					1																	6614471		1179	2721	3900	SO:0001583	missense	79707	exon1			GGCCGGCGGCTGA	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.92G>A	1.37:g.6614471C>T	ENSP00000366934:p.Arg31His		21	0	0		23	0.09	2	NM_024654	0		0	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410995	0.25465	.	.	ENSG00000162408	ENST00000377705	T	0.21932	1.98	4.07	1.12	0.20585	.	0.148255	0.31784	N	0.007075	T	0.13030	0.0316	L	0.29908	0.895	0.09310	N	0.999992	B	0.15473	0.013	B	0.10450	0.005	T	0.18085	-1.0348	10	0.52906	T	0.07	-6.6929	6.2269	0.20714	0.0:0.6699:0.0:0.3301	.	31	Q5SY16	NOL9_HUMAN	H	31	ENSP00000366934:R31H	ENSP00000366934:R31H	R	-	2	0	NOL9	6537058	0.991000	0.36638	0.157000	0.22605	0.018000	0.09664	0.511000	0.22739	0.136000	0.18733	0.561000	0.74099	CGC			0.736	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002625.1		NM_024654		T	6614471	C	T	6614471	3	4	85	1	0	0	0	0	1	0	0	0	10545	768	27	1	2064	1	NOL9	1	6614471	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10		6614471	242636150	1	5938											
RLF	6018	mdanderson.org	37	chr1	40661433	40661433	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacagccagtagaaacggagGaaggtaagtcttaagactat	17	7	11	6	1	1	2	0	0	1	2	1	4	1	4	1	3	3	2	1	3	7	4			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr1:40661433G>T	ENST00000372771.4	+	4	631	c.604G>T	c.(604-606)Gaa>Taa	p.E202*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	202					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGAAACGGAGGAAGGTAAGTC	0.348																																					p.E202X													.	.			0			c.G604T												67	70	69					1																	40661433		2203	4300	6503	SO:0001587	stop_gained	6018	exon4			ACGGAGGAAGGTA		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.604G>T	1.37:g.40661433G>T	ENSP00000361857:p.Glu202*		55	0	0		43	0.07	3	NM_012421	0		0	Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096152	0.94197	.	.	ENSG00000117000	ENST00000372771	.	.	.	5.1	5.1	0.69264	.	0.092728	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.157	18.5035	0.90890	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000361857:E202X	E	+	1	0	RLF	40434020	1.000000	0.71417	0.999000	0.59377	0.770000	0.43624	5.277000	0.65586	2.369000	0.80426	0.460000	0.39030	GAA			0.348	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000015767.1		NM_012421		T	40661433	G	T	40661433	4	4	85	1	0	0	0	0	0	1	0	0	13412	1175	41	3	618	3	RLF	1	40661433	Nonsense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	34046962	40661433	208589188	2	5939											
C1orf175	374977	mdanderson.org	37	chr1	55134566	55134566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaagagccaggatctgCtggaggcagaaggagaaaag	15	5	15	6	0	2	4	1	0	1	4	2	7	2	6	1	4	2	2	1	4	4	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr1:55134566C>T	ENST00000421030.2	+	5	1630	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000545244.1_Silent_p.L17L|MROH7_ENST00000339553.5_Silent_p.L449L|MROH7_ENST00000395690.2_Silent_p.L449L|MROH7_ENST00000409996.1_Silent_p.L17L|MROH7-TTC4_ENST00000414150.2_Silent_p.L449L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	449						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCAGGATCTGCTGGAGGCAGA	0.562																																					p.L449L													.	.			0			c.C1345T												93	90	91					1																	55134566		1896	4129	6025	SO:0001819	synonymous_variant	374977	exon5			GATCTGCTGGAGG	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1345C>T	1.37:g.55134566C>T			44	0	0		51	0.06	3	NM_001039464	1	0	0	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	CCDS41342.2																																																																																					0.562	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346978.1		NM_198547		T	55134566	C	T	55134566	2	4	85	1	0	0	0	0	0	0	0	1	2018	796	28	2		2	C1orf175	1	55134566	Silent	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	14473133	55134566	194116055	3	5940											
KIF26B	55083	mdanderson.org	37	chr1	245861584	245861584	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgacgtggagcgcctgCagcggcgacgagggggtgcc	6	5	19	11	6	0	1	0	1	0	0	1	5	0	2	2	4	4	1	2	4	0	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr1:245861584C>T	ENST00000407071.2	+	13	6441	c.6001C>T	c.(6001-6003)Cag>Tag	p.Q2001*	KIF26B_ENST00000366518.4_Nonsense_Mutation_p.Q1620*	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2001					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGAGCGCCTGCAGCGGCGACG	0.652																																					p.Q2001X													.	.			0			c.C6001T												25	29	28					1																	245861584		1976	4156	6132	SO:0001587	stop_gained	55083	exon13			CGCCTGCAGCGGC	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6001C>T	1.37:g.245861584C>T	ENSP00000385545:p.Gln2001*		29	0	0		37	0.08	3	NM_018012	0		0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Nonsense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	49	15.932238	0.99849	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0543	0.93056	0.0:1.0:0.0:0.0	.	.	.	.	X	2001;1620;1617	.	ENSP00000355475:Q1620X	Q	+	1	0	KIF26B	243928207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.387000	0.79785	2.496000	0.84212	0.655000	0.94253	CAG			0.652	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381037.1		XM_371354		T	245861584	C	T	245861584	4	4	85	1	0	0	0	0	0	1	0	0	8310	711	25	2	6051	2	KIF26B	1	245861584	Nonsense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	190727018	245861584	3389037	4	5941											
ALMS1	7840	broad.mit.edu	37	chr2	73829423	73829423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcatgttacagaccgagCgggatgcactattcaacatt	13	9	10	9	2	1	2	1	0	0	2	1	4	1	3	1	1	5	3	1	1	3	4	rs368113488		TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr2:73829423C>T	ENST00000264448.6	+	20	12334	c.12223C>T	c.(12223-12225)Cgg>Tgg	p.R4075W	ALMS1_ENST00000409009.1_Missense_Mutation_p.R4033W|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4075	ALMS motif.				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						ACAGACCGAGCGGGATGCACT	0.562																																					p.R4075W													.	ALMS1	384		0			c.C12223T							C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70	72	71		12223	5.2	1	2		71	0,8600		0,0,4300	no	missense	ALMS1	NM_015120.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	4075/4168	73829423	1,13005	2203	4300	6503	SO:0001583	missense	7840	exon20			ACCGAGCGGGATG	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.12223C>T	2.37:g.73829423C>T	ENSP00000264448:p.Arg4075Trp		276	0	0		255	0.02	5	NM_015120	41	0	0	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710565	0.48517	2.27E-4	0.0	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.12465	2.68;2.68	5.17	5.17	0.71159	.	0.084306	0.46442	D	0.000298	T	0.28863	0.0716	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.00525	-1.1689	10	0.87932	D	0	.	11.1498	0.48451	0.1835:0.8165:0.0:0.0	.	4033;4075	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	W	4033;4075	ENSP00000386627:R4033W;ENSP00000264448:R4075W	ENSP00000264448:R4075W	R	+	1	2	ALMS1	73682931	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	1.279000	0.33191	2.683000	0.91414	0.655000	0.94253	CGG			0.562	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000327776.1		NM_015120		T	73829423	C	T	73829423	3	4	85	1	0	0	0	0	1	0	0	0	535	759	27	1	12301	1	ALMS1	2	73829423	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10		73829423	169369950	5	5942											
ADRA2B	151	mdanderson.org	37	chr2	96781577	96781577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcggtccaggctgatggcGcacaggtgcacgatggacga	9	6	16	10	4	0	1	0	1	0	0	1	4	1	2	1	5	2	3	1	5	1	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr2:96781577G>A	ENST00000409345.3	-	1	407	c.312C>T	c.(310-312)tgC>tgT	p.C104C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	104					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)	GGCTGATGGCGCACAGGTGCA	0.652																																					p.C104C													.	.			0			c.C312T												42	43	43					2																	96781577		2203	4300	6503	SO:0001819	synonymous_variant	151	exon1			GATGGCGCACAGG	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.312C>T	2.37:g.96781577G>A			76	0	0		55	0.07	4	NM_000682	1	0	0	Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	CCDS56129.1																																																																																					0.652	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334990.1				A	96781577	G	A	96781577	2	1	85	1	0	0	0	0	0	0	0	1	338	1079	38	1		1	ADRA2B	2	96781577	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	22952154	96781577	146417796	6	5943											
PTMA	5757	mdanderson.org	37	chr2	232577532	232577532	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgacgatgtcgataccAagaagcagaagaccgacgag	16	4	13	8	4	0	4	0	1	0	3	1	9	0	5	2	1	2	1	2	1	4	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr2:232577532A>C	ENST00000341369.7	+	5	498	c.307A>C	c.(307-309)Aag>Cag	p.K103Q	PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409115.3_Missense_Mutation_p.K102Q|PTMA_ENST00000409683.1_Missense_Mutation_p.K99Q|PTMA_ENST00000410064.1_Missense_Mutation_p.K128Q|PTMA_ENST00000409321.1_Missense_Mutation_p.K123Q	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha	103					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGTCGATACCAAGAAGCAGAA	0.517																																					p.K103Q													.	.			0			c.A307C												40	43	42					2																	232577532		1847	4075	5922	SO:0001583	missense	5757	exon5			GATACCAAGAAGC		CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"gene sequence 28"	188390	"prothymosin, alpha (gene sequence 28)"	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.307A>C	2.37:g.232577532A>C	ENSP00000344547:p.Lys103Gln		49	0	0		63	0.08	5	NM_001099285	1382	0	0	Q15249|Q15592	Missense_Mutation	SNP	ENST00000341369.7	37	CCDS42833.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719999	0.30503	.	.	ENSG00000187514	ENST00000409321;ENST00000409115;ENST00000341369;ENST00000409683;ENST00000410064;ENST00000358839	.	.	.	4.43	4.43	0.53597	.	0.000000	0.64402	U	0.000004	T	0.80412	0.4618	M	0.87381	2.88	0.41195	D	0.986339	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.995	D	0.83954	0.0318	9	0.59425	D	0.04	.	13.1827	0.59663	1.0:0.0:0.0:0.0	.	103;102	P06454;Q53S24	PTMA_HUMAN;.	Q	123;102;103;99;128;127	.	ENSP00000344547:K103Q	K	+	1	0	PTMA	232285776	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.963000	0.87922	1.769000	0.52152	0.448000	0.29417	AAG			0.517	PTMA-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000332553.1				C	232577532	A	C	232577532	3	2	85	1	0	0	0	0	1	0	0	0	12787	131	5	4	325	4	PTMA	2	232577532	Missense_Mutation	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10	135795955	232577532	10621841	7	5944											
WDR52	55779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	113115371	113115371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtactgcttacccctgtGgctagaatttccccatcacg	9	12	7	13	1	1	1	1	0	0	1	2	1	2	1	4	1	3	3	4	1	5	4			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr3:113115371G>A	ENST00000295868.2	-	14	1935	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Silent_p.A591A	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						TTACCCCTGTGGCTAGAATTT	0.353																																					p.A591A													.	.			0			c.C1773T												83	80	81					3																	113115371		2203	4300	6503	SO:0001819	synonymous_variant	55779	exon14			CCCTGTGGCTAGA																												ENST00000295868.2:c.1773C>T	3.37:g.113115371G>A			55	0	0		77	0.36	28	NM_001164496	0		0		Silent	SNP	ENST00000295868.2	37	CCDS2972.1																																																																																					0.353	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000354128.3				A	113115371	G	A	113115371	2	1	85	1	0	0	0	0	0	0	0	1	17328	1335	47	3		3	WDR52	3	113115371	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		113115371	84907059	8	5945											
GK2	2712	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	80328968	80328968	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttactatttcctggaatTtttttactaagatcctcaac	12	17	4	8	0	1	1	1	0	0	1	3	2	3	2	2	1	3	1	2	1	7	8			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr4:80328968T>A	ENST00000358842.3	-	1	404	c.387A>T	c.(385-387)aaA>aaT	p.K129N		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTCCTGGAATTTTTTTACTAA	0.428																																					p.K129N													.	.			0			c.A387T												129	129	129					4																	80328968		2203	4300	6503	SO:0001583	missense	2712	exon1			TGGAATTTTTTTA	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.387A>T	4.37:g.80328968T>A	ENSP00000351706:p.Lys129Asn		140	0	0		97	0.15	15	NM_033214	0		0	Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	T	6.497	0.459832	0.12342	.	.	ENSG00000196475	ENST00000358842	T	0.58940	0.3	3.76	0.102	0.14522	Carbohydrate kinase, FGGY, N-terminal (1);	0.153087	0.64402	D	0.000019	T	0.56558	0.1993	L	0.53561	1.675	0.35740	D	0.818604	P	0.41188	0.741	P	0.51550	0.673	T	0.57458	-0.7808	10	0.28530	T	0.3	2.296	6.8776	0.24155	0.0:0.3125:0.0:0.6875	.	129	Q14410	GLPK2_HUMAN	N	129	ENSP00000351706:K129N	ENSP00000351706:K129N	K	-	3	2	GK2	80547992	1.000000	0.71417	0.739000	0.30968	0.012000	0.07955	0.723000	0.25939	0.032000	0.15435	-0.361000	0.07541	AAA			0.428	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252517.2		NM_033214		A	80328968	T	A	80328968	3	1	85	1	0	0	0	0	1	0	0	0	6435	1838	64	5	1278	5	GK2	4	80328968	Missense_Mutation	SNP	T	TCGA-4K-AAAL-01A-11D-A435-10		80328968	110825308	9	5946											
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	125590598	125590598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcccagctgatccagaCttggcagaattttctgattt	8	17	7	9	0	1	4	0	2	1	2	3	4	3	4	2	1	1	2	2	1	1	6			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr4:125590598C>G	ENST00000504087.1	-	4	4871	c.3834G>C	c.(3832-3834)aaG>aaC	p.K1278N	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K1099N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1278	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGATCCAGACTTGGCAGAAT	0.388																																					p.K1278N													.	.			0			c.G3834C												145	156	152					4																	125590598		2203	4300	6503	SO:0001583	missense	57182	exon4			TCCAGACTTGGCA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3834G>C	4.37:g.125590598C>G	ENSP00000425658:p.Lys1278Asn		110	0	0		95	0.21	20	NM_020337	11	0.55	6	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505046	0.44558	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68025	-0.3;-0.25	5.36	0.451	0.16629	.	0.051197	0.85682	D	0.000000	T	0.42494	0.1205	N	0.19112	0.55	0.34761	D	0.73276	B	0.26635	0.155	B	0.26517	0.07	T	0.45160	-0.9280	10	0.05959	T	0.93	.	9.7756	0.40616	0.0:0.4428:0.0:0.5572	.	1278	Q9ULJ7	ANR50_HUMAN	N	1278;1099	ENSP00000425658:K1278N;ENSP00000425355:K1099N	ENSP00000425658:K1278N	K	-	3	2	ANKRD50	125810048	0.982000	0.34865	0.906000	0.35671	0.970000	0.65996	0.261000	0.18442	-0.016000	0.14127	-0.459000	0.05422	AAG			0.388	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364775.1		NM_020337		G	125590598	C	G	125590598	3	3	85	1	0	0	0	0	1	0	0	0	677	564	20	5	459	5	ANKRD50	4	125590598	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	45261630	125590598	65563678	10	5947											
ADAMTS19	171019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	128984530	128984530	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattgtaatggtcccagaaaAcaatacagaatatgtgagaa	18	9	9	5	0	0	3	0	1	0	3	1	5	1	3	1	1	2	1	1	1	8	4			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr5:128984530A>G	ENST00000274487.4	+	13	2170	c.2025A>G	c.(2023-2025)aaA>aaG	p.K675K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	675	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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)		GTCCCAGAAAACAATACAGAA	0.378																																					p.K675K													.	.			0			c.A2025G												108	113	111					5																	128984530		2203	4300	6503	SO:0001819	synonymous_variant	171019	exon13			CAGAAAACAATAC	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.2025A>G	5.37:g.128984530A>G			213	0	0		147	0.14	20	NM_133638	2	0.5	1		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																					0.378	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250979.2		NM_133638		G	128984530	A	G	128984530	2	3	85	1	0	0	0	0	0	0	0	1	264	40	2	4		4	ADAMTS19	5	128984530	Silent	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10		128984530	51930730	11	5948											
FAM8A1	51439	hgsc.bcm.edu	37	chr6	17602826	17602826	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaatttacaggcagaGaatatgttattccatccttg	11	18	6	6	0	0	1	0	0	0	1	2	2	2	1	2	1	1	2	2	1	5	9	rs74444948	byFrequency	TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr6:17602826G>T	ENST00000259963.3	+	2	773	c.718G>T	c.(718-720)Gaa>Taa	p.E240*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	240						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TACAGGCAGAGAATATGTTAT	0.328																																					p.E240X													FAM8A1,NS,carcinoma,-1,2	FAM8A1	-1	2	0			c.G718T												100	101	101					6																	17602826		2203	4299	6502	SO:0001587	stop_gained	51439	exon2			GGCAGAGAATATG	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.718G>T	6.37:g.17602826G>T	ENSP00000259963:p.Glu240*		36	0	0		42	0.14	6	NM_016255	0		0	B2R725	Nonsense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	37	6.420554	0.97555	.	.	ENSG00000137414	ENST00000259963	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.04	18.5673	0.91121	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000259963:E240X	E	+	1	0	FAM8A1	17710805	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.467000	0.97671	2.356000	0.79943	0.644000	0.83932	GAA	0.008		0.328	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039950.1				T	17602826	G	T	17602826	4	4	85	1	0	0	0	0	0	1	0	0	5662	943	33	3	724	3	FAM8A1	6	17602826	Nonsense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		17602826	153512241	12	5949											
FKSG83	387316	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	27293144	27293144	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgatatactgtaaaacaaGactgtttatatactaccatg	15	14	5	7	0	1	2	0	1	1	1	1	2	1	2	1	0	4	2	1	0	9	8			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr6:27293144G>A								POM121L2 (13195 upstream) : ZNF391 (49249 downstream)																							TGTAAAACAAGACTGTTTATA	0.368																																					.													.	.			0			.												206	188	194					6																	27293144		1911	4118	6029	SO:0001628	intergenic_variant	387316	.			AAACAAGACTGTT																													6.37:g.27293144G>A			179	0	0		168	0.18	31	.	0		0		RNA	SNP		37																																																																																					0	0.368											A	27293144	G	A	27293144	1	1	85	0	1	0	0	0	0	0	0	0	5931	942	33	3		3	FKSG83	6	27293144	IGR	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	9690318	27293144	143821923	13	5950											
MUC21	394263	bcgsc.ca	37	chr6	30954559	30954560	+	Missense_Mutation	DNP	AC	AC	CT																															ccaactctgagtccagcacaAcctccagtggggccagcaca																								rs531044924|rs140820905	byFrequency	TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	AC	AC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr6:30954559_30954560AC>CT	ENST00000376296.3	+	2	848_849	c.607_608AC>CT	c.(607-609)ACc>CTc	p.T203L	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	203	28 X 15 AA approximate tandem repeats.|Ser-rich.				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						GTCCAGCACAACCTCCAGTGGG	0.619																																					p.T203L													.	MUC21	98		0			c.C608T																																									SO:0001583	missense	394263	exon2			AGCACAACCTCCA	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	Exception_encountered	6.37:g.30954559_30954560delinsCT	ENSP00000365473:p.Thr203Leu		83	0.0240963855	2		58	0.12	7	NM_001010909	5	0	0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	DNP	ENST00000376296.3	37	CCDS34388.1																																																																																					0.619	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909		CT	30954560	AC	CT	30954559	3	2	85	1	0	0	0	0	1	0	0	0	9993	43	2	4	613	4	MUC21	6	30954559	Missense_Mutation	DNP	AC	TCGA-4K-AAAL-01A-11D-A435-10	3661415	30954559	140160508	14	5951											
TAP2	6891	mdanderson.org	37	chr6	32796783	32796783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaatcaccagcactgtgCgatccccacgggaattccag	11	6	10	14	2	1	0	1	0	0	0	3	3	3	1	4	1	3	2	4	1	2	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr6:32796783C>T	ENST00000374897.2	-	12	2092	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	TAP2_ENST00000452392.2_Intron|TAP2_ENST00000374899.4_Intron	NM_000544.3	NP_000535.3	Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CAGCACTGTGCGATCCCCACG	0.587																																					.													.	.			0			.												9	10	10					6																	32796783		1284	2406	3690	SO:0001583	missense	6891	.			ACTGTGCGATCCC	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000374897.2:c.1961G>A	6.37:g.32796783C>T	ENSP00000364032:p.Arg654His		48	0	0		42	0.07	3	.	67	0	0	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000374897.2	37		.	.	.	.	.	.	.	.	.	.	C	14.43	2.533415	0.45073	.	.	ENSG00000204267	ENST00000374897	T	0.80994	-1.44	5.6	4.73	0.59995	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.46145	D	0.000314	D	0.82944	0.5147	M	0.71036	2.16	0.32088	N	0.592229	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85428	0.1147	9	0.72032	D	0.01	.	7.281	0.26312	0.1676:0.7466:0.0:0.0857	.	655;654	Q59H06;Q03519	.;TAP2_HUMAN	H	654	ENSP00000364032:R654H	ENSP00000364032:R654H	R	-	2	0	TAP2	32904761	0.022000	0.18835	0.125000	0.21846	0.132000	0.20833	0.209000	0.17435	1.375000	0.46248	0.596000	0.82720	CGC			0.587	TAP2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000076088.2		NM_000544		T	32796783	C	T	32796783	3	4	85	1	0	0	0	0	1	0	0	0	15574	768	27	1	188	1	TAP2	6	32796783	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	1842224	32796783	138318284	15	5952											
TDRD6	221400	mdanderson.org	37	chr6	46656464	46656464	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcctggctcggcgggTgcccgacagcctcttccgtt	2	9	15	15	4	1	0	0	0	1	0	3	1	2	0	4	4	2	3	4	4	0	2	rs200156736		TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr6:46656464T>G	ENST00000316081.6	+	1	599	c.599T>G	c.(598-600)gTg>gGg	p.V200G	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.V200G|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	200					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)			GCTCGGCGGGTGCCCGACAGC	0.677																																					p.V200G													.	.			0			c.T599G												37	45	42					6																	46656464		2202	4291	6493	SO:0001583	missense	221400	exon1			GGCGGGTGCCCGA	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.599T>G	6.37:g.46656464T>G	ENSP00000346065:p.Val200Gly		18	0.3888888889	7		11	0.73	8	NM_001168359	0		0	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358525	0.41801	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.20598	2.06;2.07	5.97	5.97	0.96955	.	0.510376	0.21132	N	0.079628	T	0.31544	0.0800	M	0.66939	2.045	0.26493	N	0.974912	D;D	0.69078	0.997;0.995	D;P	0.64410	0.925;0.856	T	0.16305	-1.0407	10	0.45353	T	0.12	-7.6911	16.1238	0.81380	0.0:0.0:0.0:1.0	.	200;200	F5H5M3;O60522	.;TDRD6_HUMAN	G	200	ENSP00000443299:V200G;ENSP00000346065:V200G	ENSP00000346065:V200G	V	+	2	0	TDRD6	46764423	0.850000	0.29656	0.981000	0.43875	0.455000	0.32408	4.661000	0.61518	2.288000	0.76882	0.533000	0.62120	GTG	0.004		0.677	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040800.1		XM_166443		G	46656464	T	G	46656464	3	3	85	1	0	0	0	0	1	0	0	0	15757	1696	59	4	601	4	TDRD6	6	46656464	Missense_Mutation	SNP	T	TCGA-4K-AAAL-01A-11D-A435-10	13859681	46656464	124458603	16	5953											
RAC1	5879	mdanderson.org	37	chr7	6414400	6414400	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgtggtggtgggagacGggtgagtgcgcggccggggc	4	7	24	6	4	0	2	0	1	0	1	0	3	0	2	1	7	1	0	1	7	0	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr7:6414400G>A	ENST00000348035.4	+	1	247	c.34G>A	c.(34-36)Gga>Aga	p.G12R	RAC1_ENST00000356142.4_Splice_Site_p.G12R|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	12					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GGTGGGAGACGGGTGAGTGCG	0.791																																					p.G12R													.	.			0			c.G34A												2	3	2					7																	6414400		1640	3324	4964	SO:0001630	splice_region_variant	5879	exon1			GGAGACGGGTGAG	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.35+1G>A	7.37:g.6414400G>A			9	0	0		12	0.33	4	NM_006908	72	0.13	9	O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278446	0.80692	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.78246	-1.16;-1.16	4.1	3.2	0.36748	Small GTP-binding protein domain (1);	0.360970	0.29752	N	0.011285	D	0.88220	0.6378	H	0.94771	3.58	0.51482	D	0.99992	P;P	0.48694	0.914;0.683	P;P	0.56042	0.79;0.688	D	0.89377	0.3679	10	0.87932	D	0	.	10.7385	0.46139	0.0:0.0:0.809:0.191	.	12;12	P63000;A4D2P0	RAC1_HUMAN;.	R	12	ENSP00000258737:G12R;ENSP00000348461:G12R	ENSP00000258737:G12R	G	+	1	0	RAC1	6380925	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.536000	0.45693	0.799000	0.34018	0.454000	0.30748	GGA			0.791	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000242868.2		NM_018890	Missense_Mutation	A	6414400	G	A	6414400	5	1	85	1	0	0	0	0	0	0	1	0	12997	1130	39	1	36	1	RAC1	7	6414400	Splice_Site	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		6414400	152724263	17	5954											
SLC25A13	10165	hgsc.bcm.edu;broad.mit.edu	37	chr7	95822404	95822406	+	In_Frame_Del	DEL	ATG	ATG	-																															catgggggcggatggtgaccAtgatgtctcggaagtcgatg																								rs181615775		TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	ATG	ATG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr7:95822404_95822406delATG	ENST00000265631.5	-	6	694_696	c.558_560delCAT	c.(556-561)atcatg>atg	p.I186del	SLC25A13_ENST00000542654.1_In_Frame_Del_p.I78del|SLC25A13_ENST00000416240.2_In_Frame_Del_p.I186del			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	186	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)	GATGGTGACCATGATGTCTCGGA	0.448																																					p.187_187del													.	SLC25A13	131		0			c.559_561del																																									SO:0001651	inframe_deletion	10165	exon6			GTGACCATGATGT	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.558_560delCAT	7.37:g.95822407_95822409delATG	ENSP00000265631:p.Ile186del		130	0	0		169	0.09	16	NM_001160210	12	0	0	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	In_Frame_Del	DEL	ENST00000265631.5	37	CCDS5645.1																																																																																					0.448	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059395.2		NM_014251		-	95822406	ATG	-	95822404	7	5	85	1	0	1	0	1	0	0	0	0	14498	217	8	0	1522	0	SLC25A13	7	95822404	In_Frame_Del	DEL	ATG	TCGA-4K-AAAL-01A-11D-A435-10	89408004	95822404	63316259	18	5955											
C7orf47	221908	bcgsc.ca	37	chr7	100033039	100033039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtcctctgaagggcGgggccggagttgaagtcgga	8	7	19	7	3	1	2	0	2	1	0	3	5	2	4	2	6	0	1	2	6	3	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr7:100033039G>T	ENST00000292330.2	-	4	896	c.706C>A	c.(706-708)Cgc>Agc	p.R236S	RP11-758P17.2_ENST00000492523.1_RNA|RP11-758P17.3_ENST00000475250.1_RNA|PPP1R35_ENST00000476185.1_5'UTR	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	236					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TCTGAAGGGCGGGGCCGGAGT	0.547																																					p.R236S													C7orf47,caecum,carcinoma,+1,1	.		1	0			c.C706A												70	69	69					7																	100033039		2203	4300	6503	SO:0001583	missense	221908	exon4			AAGGGCGGGGCCG	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.706C>A	7.37:g.100033039G>T	ENSP00000292330:p.Arg236Ser		81	0	0		52	0.08	4	NM_145030	142	0	0	A4D2C5	Missense_Mutation	SNP	ENST00000292330.2	37	CCDS5694.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885925	0.91814	.	.	ENSG00000160813	ENST00000292330	.	.	.	4.52	4.52	0.55395	.	0.194028	0.32473	N	0.006051	T	0.49406	0.1555	N	0.14661	0.345	0.44834	D	0.997849	D	0.63880	0.993	P	0.62435	0.902	T	0.38200	-0.9672	9	0.19590	T	0.45	-17.5132	12.6364	0.56685	0.0:0.0:1.0:0.0	.	236	Q8TAP8	PPR35_HUMAN	S	236	.	ENSP00000292330:R236S	R	-	1	0	C7orf47	99870975	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.931000	0.63469	2.352000	0.79861	0.491000	0.48974	CGC			0.547	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356095.2		NM_145030		T	100033039	G	T	100033039	3	4	85	1	0	0	0	0	1	0	0	0	2399	1116	39	1	59	1	C7orf47	7	100033039	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	4210635	100033039	59105624	19	5956											
EPO	2056	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	100320334	100320334	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctggccctgctgtcGgaagctgtcctgcggggcca	4	7	16	14	2	0	0	0	0	0	0	2	1	1	1	4	5	3	2	4	5	1	0	rs374875798		TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr7:100320334G>A	ENST00000252723.2	+	4	475	c.294G>A	c.(292-294)tcG>tcA	p.S98S		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	98					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTGCTGTCGGAAGCTGTCC	0.652																																					p.S98S													.	.			0			c.G294A							G		0,4402		0,0,2201	21	25	23		294	-6.9	1	7		23	1,8597		0,1,4298	no	coding-synonymous	EPO	NM_000799.2		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		98/194	100320334	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	2056	exon4			GCTGTCGGAAGCT	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.294G>A	7.37:g.100320334G>A			104	0	0		128	0.09	11	NM_000799	2	0	0	Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	CCDS5705.1																																																																																					0.652	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325323.1		NM_000799		A	100320334	G	A	100320334	2	1	85	1	0	0	0	0	0	0	0	1	5195	1103	39	1		1	EPO	7	100320334	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	287295	100320334	58818329	20	5957											
PEBP4	157310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	22582428	22582428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagacaaagaactggtagcGatggaagccactgtgtgccg	13	7	13	8	2	0	2	0	0	0	2	0	4	0	3	2	2	4	1	2	2	5	2	rs201433464	byFrequency	TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr8:22582428G>A	ENST00000256404.6	-	6	536	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	149						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		AACTGGTAGCGATGGAAGCCA	0.532																																					p.R149C													PEBP4,colon,carcinoma,+1,3	PEBP4	1	3	0			c.C445T												69	79	76					8																	22582428		1994	4156	6150	SO:0001583	missense	157310	exon6			GGTAGCGATGGAA	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.445C>T	8.37:g.22582428G>A	ENSP00000256404:p.Arg149Cys		199	0	0		273	0.12	32	NM_144962	2	0	0	Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	37	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334516	0.60853	.	.	ENSG00000134020	ENST00000256404	T	0.70399	-0.48	5.66	4.76	0.60689	.	0.000000	0.56097	D	0.000028	D	0.88800	0.6535	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91415	0.5154	10	0.87932	D	0	-31.9767	12.0528	0.53515	0.0:0.0:0.8289:0.1711	.	149	Q96S96	PEBP4_HUMAN	C	149	ENSP00000256404:R149C	ENSP00000256404:R149C	R	-	1	0	PEBP4	22638373	1.000000	0.71417	0.999000	0.59377	0.571000	0.35966	3.423000	0.52756	2.672000	0.90937	0.467000	0.42956	CGC			0.532	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375141.2		NM_144962		A	22582428	G	A	22582428	3	1	85	1	0	0	0	0	1	0	0	0	11731	1058	37	1	246	1	PEBP4	8	22582428	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		22582428	123781594	21	5958											
SNTG1	54212	broad.mit.edu	37	chr8	51449300	51449300	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgggagaagcgatggtgCgacctcagactgatccctct	9	8	14	10	2	2	3	1	1	1	2	3	6	3	3	2	3	2	0	2	3	1	0	rs35419988		TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr8:51449300C>T	ENST00000522124.1	+	11	1273	c.612C>T	c.(610-612)tgC>tgT	p.C204C	SNTG1_ENST00000517473.1_Silent_p.C204C|SNTG1_ENST00000518864.1_Silent_p.C204C|SNTG1_ENST00000276467.5_Silent_p.C204C	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	204					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGCGATGGTGCGACCTCAGAC	0.473																																					p.C204C													SNTG1_ENST00000518864,NS,carcinoma,0,2	SNTG1	304	2	0			c.C612T												216	189	198					8																	51449300		2203	4300	6503	SO:0001819	synonymous_variant	54212	exon11			ATGGTGCGACCTC	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.612C>T	8.37:g.51449300C>T			122	0.0081967213	1		177	0.04	7	NM_018967	0		0	Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	CCDS6147.1																																																																																					0.473	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377964.1				T	51449300	C	T	51449300	2	4	85	1	0	0	0	0	0	0	0	1	14897	776	27	1		1	SNTG1	8	51449300	Silent	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	28866872	51449300	94914722	22	5959											
GABBR2	9568	mdanderson.org	37	chr9	101470851	101470851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcatgaggcccatgatggAgagcggcgggctgctgggcg	6	5	20	10	4	0	3	0	2	0	1	0	4	0	3	1	6	2	3	1	6	0	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr9:101470851A>G	ENST00000259455.2	-	1	628	c.169T>C	c.(169-171)Tcc>Ccc	p.S57P		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	57					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCCATGATGGAGAGCGGCGGG	0.741																																					p.S57P													.	.			0			c.T169C												14	15	15					9																	101470851		2201	4295	6496	SO:0001583	missense	9568	exon1			TGATGGAGAGCGG	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.169T>C	9.37:g.101470851A>G	ENSP00000259455:p.Ser57Pro		15	0	0		13	0.23	3	NM_005458	0		0	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.921866	0.33908	.	.	ENSG00000136928	ENST00000259455	T	0.21361	2.01	2.82	2.82	0.32997	.	0.000000	0.37669	U	0.001985	T	0.10165	0.0249	N	0.08118	0	0.33311	D	0.566113	B	0.02656	0.0	B	0.01281	0.0	T	0.07121	-1.0789	10	0.46703	T	0.11	.	8.8418	0.35146	1.0:0.0:0.0:0.0	.	57	O75899	GABR2_HUMAN	P	57	ENSP00000259455:S57P	ENSP00000259455:S57P	S	-	1	0	GABBR2	100510672	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.872000	0.39549	1.168000	0.42723	0.374000	0.22700	TCC			0.741	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053373.1				G	101470851	A	G	101470851	3	3	85	1	0	0	0	0	1	0	0	0	6169	304	11	4	2732	4	GABBR2	9	101470851	Missense_Mutation	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10		101470851	39742580	23	5960											
ZBTB43	23099	mdanderson.org	37	chr9	129595247	129595247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttataatggcctggtagaGagctttgagctgggctctgg	8	12	15	6	0	1	2	0	1	1	1	1	3	1	2	1	4	2	5	1	4	3	4			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr9:129595247G>T	ENST00000373464.4	+	3	723	c.459G>T	c.(457-459)gaG>gaT	p.E153D	ZBTB43_ENST00000373457.1_Missense_Mutation_p.E153D|ZBTB43_ENST00000449886.1_Missense_Mutation_p.E153D	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCCTGGTAGAGAGCTTTGAGC	0.478																																					p.E153D													.	.			0			c.G459T												33	35	34					9																	129595247		2203	4300	6503	SO:0001583	missense	23099	exon2			GGTAGAGAGCTTT	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.459G>T	9.37:g.129595247G>T	ENSP00000362563:p.Glu153Asp		83	0	0		49	0.06	3	NM_001135776	0		0	Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528298	0.27299	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000450858;ENST00000373457	T;T;T;T	0.58210	2.85;2.85;0.35;2.85	5.75	4.63	0.57726	.	0.060372	0.64402	D	0.000005	T	0.30070	0.0753	N	0.24115	0.695	0.34143	D	0.666633	D	0.53885	0.963	B	0.41088	0.347	T	0.29150	-1.0021	10	0.14656	T	0.56	.	4.2898	0.10872	0.3011:0.0:0.6989:0.0	.	153	O43298	ZBT43_HUMAN	D	153	ENSP00000390344:E153D;ENSP00000362563:E153D;ENSP00000412145:E153D;ENSP00000362556:E153D	ENSP00000362556:E153D	E	+	3	2	ZBTB43	128635068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.944000	0.40263	2.878000	0.98634	0.650000	0.86243	GAG			0.478	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054124.1		NM_001135776		T	129595247	G	T	129595247	3	4	85	1	0	0	0	0	1	0	0	0	17567	933	33	3	461	3	ZBTB43	9	129595247	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	28124396	129595247	11618184	24	5961											
ABO	28	broad.mit.edu;mdanderson.org	37	chr9	136131248	136131248	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgccgttggcctggtcGaccatcatggcctggtggca	5	10	14	12	3	1	0	1	0	0	0	3	2	1	0	4	5	1	2	4	5	0	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr9:136131248G>T	ENST00000453660.2	-	0	880				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)		TGGCCTGGTCGACCATCATGG	0.642																																					.													.	ABO	30		0			.												47	54	52					9																	136131248		2112	4204	6316			28	.			CTGGTCGACCATC	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.136131248G>T			107	0	0		66	0.06	4	.	2	0	0	B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.642	ABO-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000054907.4		NM_020469		T	136131248	G	T	136131248	1	4	85	0	1	0	0	0	0	0	0	0	97	1045	37	1		1	ABO	9	136131248	RNA	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	6536001	136131248	5082183	25	5962											
LCN1	3933	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	138415793	138415793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactacatcttttactgtgaGggcgagctgcacgggaagcc	9	9	12	11	2	1	1	0	1	1	0	1	3	1	2	1	2	5	2	1	2	3	3			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr9:138415793G>T	ENST00000263598.2	+	4	420	c.360G>T	c.(358-360)gaG>gaT	p.E120D	LCN1_ENST00000371781.3_Missense_Mutation_p.E120D	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	120					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TTTACTGTGAGGGCGAGCTGC	0.607																																					p.E120D													.	.			0			c.G360T												96	78	84					9																	138415793		2203	4300	6503	SO:0001583	missense	3933	exon4			CTGTGAGGGCGAG		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"Lipocalins"	6525	protein-coding gene	gene with protein product	"Von Ebner gland protein", "tear lipocalin", "lipocalin 1-like 2", "tear prealbumin"	151675	"lipocalin 1 (protein migrating faster than albumin, tear prealbumin)", "lipocalin 1 (tear prealbumin)"			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.360G>T	9.37:g.138415793G>T	ENSP00000263598:p.Glu120Asp		51	0	0		29	0.34	10	NM_001252617	0		0	Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582959	0.28268	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.09073	3.02;3.02	3.11	-5.83	0.02325	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.354583	0.20062	N	0.100077	T	0.05777	0.0151	M	0.66506	2.035	0.09310	N	1	B	0.34226	0.443	B	0.33042	0.157	T	0.33189	-0.9878	10	0.18276	T	0.48	.	1.72	0.02909	0.4717:0.1387:0.2492:0.1403	.	120	P31025	LCN1_HUMAN	D	120	ENSP00000263598:E120D;ENSP00000360846:E120D	ENSP00000263598:E120D	E	+	3	2	LCN1	137555614	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-2.060000	0.01392	-1.456000	0.01921	0.543000	0.68304	GAG			0.607	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054992.1		NM_002297		T	138415793	G	T	138415793	3	4	85	1	0	0	0	0	1	0	0	0	8695	991	35	3	374	3	LCN1	9	138415793	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	2284545	138415793	2797638	26	5963											
ZEB1	6935	mdanderson.org	37	chr10	31803542	31803542	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttacagagacatgtgacGcagtctgggtgtaatcgtaa	11	12	11	7	2	2	2	0	1	2	1	3	3	2	2	0	1	1	3	0	1	3	4	rs149166539		TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr10:31803542G>T	ENST00000320985.10	+	6	806	c.696G>T	c.(694-696)acG>acT	p.T232T	ZEB1_ENST00000446923.2_Silent_p.T216T|ZEB1_ENST00000361642.5_Silent_p.T233T|ZEB1_ENST00000542815.3_Silent_p.T165T|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.T212T			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	232					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GACATGTGACGCAGTCTGGGT	0.338																																					p.T233T	Ovarian(40;423 959 14296 36701 49589)												.	.			0			c.G699T												90	87	88					10																	31803542		2203	4299	6502	SO:0001819	synonymous_variant	6935	exon6			TGTGACGCAGTCT	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.696G>T	10.37:g.31803542G>T			52	0	0		49	0.06	3	NM_001174096	2	0	0	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	CCDS7169.1																																																																																					0.338	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000419083.2		NM_030751		T	31803542	G	T	31803542	2	4	85	1	0	0	0	0	0	0	0	1	17646	1074	38	1		1	ZEB1	10	31803542	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		31803542	103731205	27	5964											
ZNF33A	7581	mdanderson.org	37	chr10	38343734	38343734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtatatgtcaggaaaccCtccttgaaaaggcagtattc	14	10	8	9	0	1	1	1	1	0	0	3	2	2	2	2	2	1	3	2	2	6	5			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr10:38343734C>A	ENST00000458705.2	+	5	837	c.679C>A	c.(679-681)Ctc>Atc	p.L227I	ZNF33A_ENST00000307441.9_Missense_Mutation_p.L227I|ZNF33A_ENST00000374618.3_Missense_Mutation_p.L228I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.L234I			Q06730	ZN33A_HUMAN	zinc finger protein 33A	227					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(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TCAGGAAACCCTCCTTGAAAA	0.368																																					p.L228I													.	.			0			c.C682A												86	83	84					10																	38343734		2203	4299	6502	SO:0001583	missense	7581	exon5			GAAACCCTCCTTG	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.679C>A	10.37:g.38343734C>A	ENSP00000387713:p.Leu227Ile		62	0	0		46	0.07	3	NM_006954	7	0	0	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630810	0.14322	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.06218	3.37;3.33;3.33;3.33	2.33	-0.394	0.12434	.	0.809444	0.10110	N	0.714793	T	0.04407	0.0121	N	0.24115	0.695	0.09310	N	1	B;B;B	0.16166	0.013;0.008;0.016	B;B;B	0.21151	0.033;0.006;0.017	T	0.42632	-0.9440	10	0.87932	D	0	.	3.5845	0.07966	0.0:0.146:0.2269:0.6271	.	234;227;228	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	I	228;234;227;227	ENSP00000363747:L228I;ENSP00000402467:L234I;ENSP00000387713:L227I;ENSP00000304268:L227I	ENSP00000304268:L227I	L	+	1	0	ZNF33A	38383740	0.057000	0.20700	0.086000	0.20670	0.014000	0.08584	1.071000	0.30666	-0.227000	0.09884	-1.396000	0.01147	CTC			0.368	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000047614.1		NM_006974		A	38343734	C	A	38343734	3	1	85	1	0	0	0	0	1	0	0	0	17877	681	24	3	696	3	ZNF33A	10	38343734	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	6540192	38343734	97191013	28	5965											
PACSIN3	29763	mdanderson.org	37	chr11	47202203	47202203	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgctcagccgccgtgaaaaAggcatgccaggccttctcca	9	6	10	16	3	2	1	1	1	1	0	3	1	2	1	6	2	2	2	6	2	2	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr11:47202203A>G	ENST00000539589.1	-	5	592	c.250T>C	c.(250-252)Ttt>Ctt	p.F84L	PACSIN3_ENST00000298838.6_Missense_Mutation_p.F84L	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	84	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						GCCGTGAAAAAGGCATGCCAG	0.682																																					p.F84L													.	.			0			c.T250C												22	24	24					11																	47202203		2200	4296	6496	SO:0001583	missense	29763	exon5			TGAAAAAGGCATG	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.250T>C	11.37:g.47202203A>G	ENSP00000440945:p.Phe84Leu		18	0	0		16	0.13	2	NM_001184975	41	0	0	A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.206559	0.39003	.	.	ENSG00000165912	ENST00000298838;ENST00000415232;ENST00000539589;ENST00000528462;ENST00000531226;ENST00000525725	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.38	5.38	0.77491	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	N	0.26042	0.785	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.05649	-1.0872	10	0.09590	T	0.72	-17.7821	15.3959	0.74794	1.0:0.0:0.0:0.0	.	84	Q9UKS6	PACN3_HUMAN	L	84	ENSP00000298838:F84L;ENSP00000440945:F84L;ENSP00000437252:F84L;ENSP00000434699:F84L;ENSP00000435638:F84L	ENSP00000298838:F84L	F	-	1	0	PACSIN3	47158779	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	4.528000	0.60580	2.048000	0.60808	0.459000	0.35465	TTT			0.682	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391632.1		NM_016223		G	47202203	A	G	47202203	3	3	85	1	0	0	0	0	1	0	0	0	11393	72	3	4	1052	4	PACSIN3	11	47202203	Missense_Mutation	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10		47202203	87804313	29	5966											
OR4C3	256144	broad.mit.edu	37	chr11	48346502	48346502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttttcccccatgcaattaGttctattacttatgtttctc	7	20	4	10	0	2	0	0	0	2	0	4	0	3	0	2	0	2	4	2	0	5	8			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr11:48346502G>T	ENST00000319856.4	+	1	31	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0						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						CATGCAATTAGTTCTATTACT	0.338																																					p.V4F													.	OR4C3	75		0			c.G10T												114	118	117					11																	48346502		2201	4298	6499	SO:0001583	missense	256144	exon1			CAATTAGTTCTAT	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.10G>T	11.37:g.48346502G>T	ENSP00000321419:p.Val4Phe		101	0	0		93	0.04	4	NM_001004702	0		0	B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567952	0.28003	.	.	ENSG00000176547	ENST00000319856	T	0.08634	3.07	4.04	-6.61	0.01818	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38265	-0.9669	6	0.66056	D	0.02	.	0.789	0.01054	0.4461:0.1281:0.169:0.2568	.	.	.	.	F	4	ENSP00000321419:V4F	ENSP00000321419:V4F	V	+	1	0	OR4C3	48303078	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.700000	0.01905	-1.112000	0.02984	-0.539000	0.04255	GTT			0.338	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390557.1		NM_001004702		T	48346502	G	T	48346502	3	4	85	1	0	0	0	0	1	0	0	0	11067	1029	36	3	12	3	OR4C3	11	48346502	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	1144299	48346502	86660014	30	5967											
CD248	57124	mdanderson.org	37	chr11	66083957	66083957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaccaggtggaagggcGtggtatacacggctgggccg	8	6	19	8	3	0	1	0	0	0	1	0	3	0	2	2	7	1	2	2	7	3	2			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr11:66083957G>A	ENST00000311330.3	-	1	558	c.542C>T	c.(541-543)aCg>aTg	p.T181M	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	181	Sushi.				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						GTGGAAGGGCGTGGTATACAC	0.677																																					p.T181M													.	.			0			c.C542T												13	16	15					11																	66083957		2184	4288	6472	SO:0001583	missense	57124	exon1			AAGGGCGTGGTAT	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.542C>T	11.37:g.66083957G>A	ENSP00000308117:p.Thr181Met		19	0	0		11	0.18	2	NM_020404	17	0	0	Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769758	0.49680	.	.	ENSG00000174807	ENST00000311330	T	0.57273	0.41	4.19	4.19	0.49359	.	0.308092	0.30850	N	0.008755	T	0.66056	0.2751	M	0.72353	2.195	0.42382	D	0.992496	D	0.89917	1.0	D	0.69142	0.962	T	0.69131	-0.5226	10	0.72032	D	0.01	-9.053	7.7986	0.29162	0.1133:0.0:0.8867:0.0	.	181	Q9HCU0	CD248_HUMAN	M	181	ENSP00000308117:T181M	ENSP00000308117:T181M	T	-	2	0	CD248	65840533	1.000000	0.71417	0.989000	0.46669	0.311000	0.27955	6.631000	0.74277	2.171000	0.68590	0.561000	0.74099	ACG			0.677	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392922.2		NM_020404		A	66083957	G	A	66083957	3	1	85	1	0	0	0	0	1	0	0	0	2991	1145	40	1	1735	1	CD248	11	66083957	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	17737455	66083957	68922559	31	5968											
HEPACAM	220296	mdanderson.org	37	chr11	124805885	124805885	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggctctggacagggcTcccctttctctcttcatttt	4	15	9	13	0	4	0	1	0	3	0	6	2	5	2	2	4	0	2	2	4	0	4			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr11:124805885T>C	ENST00000298251.4	-	1	423	c.18A>G	c.(16-18)ggA>ggG	p.G6G		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGGACAGGGCTCCCCTTTCTC	0.547																																					p.G6G													.	.			0			c.A18G												69	67	67					11																	124805885		2201	4299	6500	SO:0001819	synonymous_variant	220296	exon1			CAGGGCTCCCCTT	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26361	protein-coding gene	gene with protein product	"glial cell adhesion molecule"	611642	"hepatocyte cell adhesion molecule"			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.18A>G	11.37:g.124805885T>C			81	0	0		52	0.06	3	NM_152722	0		0		Silent	SNP	ENST00000298251.4	37	CCDS8456.1																																																																																					0.547	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387125.1		NM_152722		C	124805885	T	C	124805885	2	2	85	1	0	0	0	0	0	0	0	1	7067	1538	54	4		4	HEPACAM	11	124805885	Silent	SNP	T	TCGA-4K-AAAL-01A-11D-A435-10	58721928	124805885	10200631	32	5969											
NCAPD3	23310	bcgsc.ca	37	chr11	134027845	134027845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgactgcacgttttttctggGcttccagaatttaaagtgaa	10	15	9	7	1	1	3	0	2	1	1	2	3	2	3	1	1	1	3	1	1	4	6			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr11:134027845G>A	ENST00000534548.2	-	31	4216	c.4152C>T	c.(4150-4152)agC>agT	p.S1384S		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1384					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)		TTTTTTCTGGGCTTCCAGAAT	0.448																																					p.S1384S													.	NCAPD3	141		0			c.C4152T												209	214	212					11																	134027845		2201	4297	6498	SO:0001819	synonymous_variant	23310	exon31			TTCTGGGCTTCCA	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.4152C>T	11.37:g.134027845G>A			74	0	0		45	0.09	4	NM_015261	28	0	0	A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	CCDS31723.1																																																																																					0.448	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393575.2		NM_015261		A	134027845	G	A	134027845	2	1	85	1	0	0	0	0	0	0	0	1	10223	1194	42	2		2	NCAPD3	11	134027845	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	9221960	134027845	978671	33	5970											
FGF6	2251	mdanderson.org	37	chr12	4554548	4554548	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatctctccagctagcccGgcgcgagacctggacagcag	9	5	12	15	3	1	1	0	0	1	1	3	3	2	2	3	2	3	3	3	2	2	1	rs7358740	byFrequency	TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr12:4554548G>T	ENST00000228837.2	-	1	232	c.189C>A	c.(187-189)gcC>gcA	p.A63A		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	63			A -> V (in dbSNP:rs17183529). {ECO:0000269|Ref.2}.		angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CAGCTAGCCCGGCGCGAGACC	0.647																																					p.A63A													FGF6,colon,carcinoma,-2,2	FGF6	-2	2	0			c.C189A												89	83	85					12																	4554548		2203	4300	6503	SO:0001819	synonymous_variant	2251	exon1			TAGCCCGGCGCGA	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.189C>A	12.37:g.4554548G>T			46	0	0		67	0.04	3	NM_020996	0		0	Q0VAE1	Silent	SNP	ENST00000228837.2	37	CCDS8527.1																																																																																			0		0.647	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398939.1		NM_020996		T	4554548	G	T	4554548	2	4	85	1	0	0	0	0	0	0	0	1	5869	1103	39	1		1	FGF6	12	4554548	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		4554548	129297347	34	5971											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu	37	chr12	25378562	25378562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacctgtcttgtctttgCtgatgtttcaataaaaggaa	11	16	7	7	0	3	1	1	1	2	0	3	2	3	2	1	1	2	2	1	1	5	5	rs121913527		TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr12:25378562C>G	ENST00000256078.4	-	4	499	c.436G>C	c.(436-438)Gca>Cca	p.A146P	KRAS_ENST00000311936.3_Missense_Mutation_p.A146P|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	146			A -> T (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.A146T(75)|p.A146P(7)	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)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.A146P	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,+1,137	KRAS_ENST00000256078	1	137	82	Substitution - Missense(82)	large_intestine(69)|haematopoietic_and_lymphoid_tissue(11)|lung(2)	c.G436C												207	188	195					12																	25378562		2203	4300	6503	SO:0001583	missense	3845	exon4	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	TCTTTGCTGATGT	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.436G>C	12.37:g.25378562C>G	ENSP00000256078:p.Ala146Pro		54	0.0185185185	1		118	0.08	9	NM_004985	34	0.09	3	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861547	0.91433	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88975	-2.45;-2.45	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	N	0.000000	D	0.97368	0.9139	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98839	1.0754	10	0.87932	D	0	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	P	146	ENSP00000308495:A146P;ENSP00000256078:A146P	ENSP00000256078:A146P	A	-	1	0	KRAS	25269829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.757000	0.94681	0.585000	0.79938	GCA			0.323	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360		G	25378562	C	G	25378562	3	3	85	1	0	0	0	0	1	0	0	0	8453	797	28	5	262	5	KRAS	12	25378562	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	20824014	25378562	108473333	35	5972											
APAF1	317	broad.mit.edu	37	chr12	99052954	99052954	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggttgtttcccagggggAgtgcattgggtttcagttgg	5	14	16	6	0	1	0	1	0	0	0	2	1	2	1	1	5	1	5	1	5	1	6			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr12:99052954A>G	ENST00000551964.1	+	5	1279	c.543A>G	c.(541-543)ggA>ggG	p.G181G	APAF1_ENST00000333991.1_Silent_p.G181G|APAF1_ENST00000357310.1_Silent_p.G181G|APAF1_ENST00000552268.1_Silent_p.G181G|APAF1_ENST00000339433.3_Silent_p.G181G|APAF1_ENST00000549007.1_Silent_p.G181G|APAF1_ENST00000547045.1_Silent_p.G181G|APAF1_ENST00000550527.1_Silent_p.G170G|APAF1_ENST00000359972.2_Silent_p.G170G	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	181	NB-ARC.				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)	TCCCAGGGGGAGTGCATTGGG	0.423																																					p.G181G													.	APAF1	111		0			c.A543G												122	125	124					12																	99052954		2203	4300	6503	SO:0001819	synonymous_variant	317	exon5			AGGGGGAGTGCAT	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.543A>G	12.37:g.99052954A>G			121	0	0		153	0.03	4	NM_181868	1	0	0	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	CCDS9069.1																																																																																					0.423	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408006.1		NM_181861.1		G	99052954	A	G	99052954	2	3	85	1	0	0	0	0	0	0	0	1	755	291	11	4		4	APAF1	12	99052954	Silent	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10	73674392	99052954	34798941	36	5973											
PABPC3	5042	bcgsc.ca	37	chr13	25671027	25671027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgaaagtggaaaatccAaaggatttggatttgtaagc	15	10	11	5	1	0	1	0	1	0	0	1	5	1	4	2	3	1	1	2	3	5	3	rs78826513	byFrequency	TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr13:25671027A>G	ENST00000281589.3	+	1	728	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	231	RRM 3. {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)		TGGAAAATCCAAAGGATTTGG	0.418																																					p.K231E													.	PABPC3	129		0			c.A691G												81	76	78					13																	25671027		2203	4300	6503	SO:0001583	missense	5042	exon1			AAATCCAAAGGAT	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.691A>G	13.37:g.25671027A>G	ENSP00000281589:p.Lys231Glu		109	0.0091743119	1		74	0.12	9	NM_030979	29	0	0	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631048	0.46944	.	.	ENSG00000151846	ENST00000281589	T	0.08807	3.05	0.993	0.993	0.19825	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49916	U	0.000136	T	0.27063	0.0663	M	0.90198	3.095	0.34162	D	0.668825	D	0.65815	0.995	D	0.67725	0.953	T	0.36553	-0.9743	10	0.87932	D	0	.	6.1165	0.20130	1.0:0.0:0.0:0.0	.	231	Q9H361	PABP3_HUMAN	E	231	ENSP00000281589:K231E	ENSP00000281589:K231E	K	+	1	0	PABPC3	24569027	0.998000	0.40836	0.994000	0.49952	0.967000	0.64934	2.374000	0.44274	0.692000	0.31613	0.374000	0.22700	AAA			0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044220.2		NM_030979		G	25671027	A	G	25671027	3	3	85	1	0	0	0	0	1	0	0	0	11382	131	5	4	693	4	PABPC3	13	25671027	Missense_Mutation	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10		25671027	89498851	37	5974											
NKX2-1	7080	mdanderson.org	37	chr14	36988207	36988207	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggcggggaagcgcgggTctgggttggcgccgtaccat	5	8	18	10	5	1	0	0	0	1	0	1	1	1	1	2	6	3	2	2	6	3	3			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr14:36988207T>G	ENST00000518149.1	-	2	961	c.356A>C	c.(355-357)gAc>gCc	p.D119A	NKX2-1_ENST00000498187.2_Missense_Mutation_p.D119A|NKX2-1-AS1_ENST00000521292.2_RNA|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.D119A|NKX2-1_ENST00000354822.5_Missense_Mutation_p.D149A			P43699	NKX21_HUMAN	NK2 homeobox 1	119					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)		GAAGCGCGGGTCTGGGTTGGC	0.706			A		NSCLC																																p.D149A				Dom	yes		14	14q13	7080	NK2 homeobox 1		E	.	.			0			c.A446C												6	9	8					14																	36988207		2016	4143	6159	SO:0001583	missense	7080	exon2			CGCGGGTCTGGGT		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.356A>C	14.37:g.36988207T>G	ENSP00000428341:p.Asp119Ala		13	0.2307692308	3		17	0.41	7	NM_001079668	0		0	D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878332	0.72294	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.89095	3.005	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	D	0.85629	0.1269	10	0.36615	T	0.2	.	13.3643	0.60674	0.0:0.0:0.0:1.0	.	149;119	P43699-3;P43699	.;NKX21_HUMAN	A	149;119;119;119	ENSP00000346879:D149A;ENSP00000429607:D119A;ENSP00000428341:D119A;ENSP00000429519:D119A	ENSP00000346879:D149A	D	-	2	0	NKX2-1	36057958	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.181000	0.77682	1.819000	0.53055	0.374000	0.22700	GAC			0.706	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376225.2		NM_003317		G	36988207	T	G	36988207	3	3	85	1	0	0	0	0	1	0	0	0	10466	1667	58	4	767	4	NKX2-1	14	36988207	Missense_Mutation	SNP	T	TCGA-4K-AAAL-01A-11D-A435-10		36988207	70361333	38	5975											
INO80	54617	broad.mit.edu	37	chr15	41277616	41277616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgtttctcttcctgccGcagcctcactatcaagaaaa	9	12	6	14	2	3	1	2	0	1	1	5	1	4	1	4	0	3	2	4	0	4	4			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr15:41277616G>A	ENST00000361937.3	-	32	4265	c.3841C>T	c.(3841-3843)Cgg>Tgg	p.R1281W	INO80_ENST00000401393.3_Missense_Mutation_p.R1281W|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1281	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R1281W(2)		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						TCTTCCTGCCGCAGCCTCACT	0.463																																					p.R1281W													INOC1,NS,carcinoma,0,2	INO80	122	2	2	Substitution - Missense(2)	endometrium(2)	c.C3841T												138	108	118					15																	41277616		2203	4300	6503	SO:0001583	missense	54617	exon32			CCTGCCGCAGCCT	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.3841C>T	15.37:g.41277616G>A	ENSP00000355205:p.Arg1281Trp		139	0.0071942446	1		131	0.04	5	NM_017553	14	0	0	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767173	0.69878	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	T;T	0.08193	3.12;3.12	4.79	4.79	0.61399	.	0.065211	0.64402	D	0.000008	T	0.18425	0.0442	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.00305	-1.1831	10	0.72032	D	0.01	.	12.6983	0.57016	0.0:0.0:0.8353:0.1647	.	1281	Q9ULG1	INO80_HUMAN	W	75;1281;1281	ENSP00000355205:R1281W;ENSP00000384686:R1281W	ENSP00000263793:R75W	R	-	1	2	INO80	39064908	1.000000	0.71417	0.971000	0.41717	0.749000	0.42624	3.469000	0.53093	2.492000	0.84095	0.563000	0.77884	CGG			0.463	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252527.2		NM_017553		A	41277616	G	A	41277616	3	1	85	1	0	0	0	0	1	0	0	0	7761	1086	38	1	849	1	INO80	15	41277616	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		41277616	61253776	39	5976											
VPS13C	54832	hgsc.bcm.edu;mdanderson.org	37	chr15	62199517	62199517	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtccatgtaagttttctGgtaccagtaggatctgccca	9	14	9	9	0	2	0	0	0	2	0	3	1	3	1	3	2	2	4	3	2	4	6			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr15:62199517G>T	ENST00000261517.5	-	66	9124	c.9051C>A	c.(9049-9051)acC>acA	p.T3017T	VPS13C_ENST00000395896.4_Silent_p.T3017T|VPS13C_ENST00000249837.3_Silent_p.T2974T|VPS13C_ENST00000395898.3_Silent_p.T2974T	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						TAAGTTTTCTGGTACCAGTAG	0.423																																					p.T3017T													VPS13C,NS,carcinoma,-1,1	VPS13C	-1	1	0			c.C9051A												185	165	171					15																	62199517		2203	4300	6503	SO:0001819	synonymous_variant	54832	exon66			TTTTCTGGTACCA	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.9051C>A	15.37:g.62199517G>T			122	0	0		119	0.05	6	NM_020821	5	0	0		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																					0.423	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000415997.1		NM_017684		T	62199517	G	T	62199517	2	4	85	1	0	0	0	0	0	0	0	1	17215	1335	47	3		3	VPS13C	15	62199517	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	20921901	62199517	40331875	40	5977											
ZNF213	7760	mdanderson.org	37	chr16	3191015	3191015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccacacaagtgccctgaGtgcgacaagagcttccgcag	12	5	11	13	2	0	2	0	1	0	1	1	3	1	2	3	0	4	2	3	0	3	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr16:3191015G>T	ENST00000396878.3	+	6	1522	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	ZNF213_ENST00000576416.1_Missense_Mutation_p.E349D|ZNF213_ENST00000416391.2_Missense_Mutation_p.E191D|ZNF213_ENST00000574902.1_Missense_Mutation_p.E349D	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	349					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGTGCCCTGAGTGCGACAAGA	0.672																																					p.E349D													.	.			0			c.G1047T												29	29	29					16																	3191015		2197	4300	6497	SO:0001583	missense	7760	exon6			CCCTGAGTGCGAC	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1047G>T	16.37:g.3191015G>T	ENSP00000380087:p.Glu349Asp		28	0	0		32	0.09	3	NM_001134655	1	0	0	A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816022	0.32145	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.07567	3.18;3.18	4.81	-2.8	0.05823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000421	T	0.05547	0.0146	L	0.33245	0.995	0.28429	N	0.917379	B	0.12630	0.006	B	0.16722	0.016	T	0.20140	-1.0284	10	0.72032	D	0.01	.	6.7343	0.23401	0.4369:0.1241:0.4389:0.0	.	349	O14771	ZN213_HUMAN	D	349;191	ENSP00000380087:E349D;ENSP00000403892:E191D	ENSP00000380087:E349D	E	+	3	2	ZNF213	3131016	0.004000	0.15560	0.795000	0.32087	0.877000	0.50540	0.016000	0.13377	-0.370000	0.08016	-0.448000	0.05591	GAG			0.672	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437334.1		NM_004220		T	3191015	G	T	3191015	3	4	85	1	0	0	0	0	1	0	0	0	17792	1020	36	3	1065	3	ZNF213	16	3191015	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		3191015	87163738	41	5978											
ITGAL	3683	mdanderson.org	37	chr16	30531261	30531261	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggggggctgctgctgctGctgctcattttcatagtgct	4	14	13	10	1	2	0	2	0	0	0	3	0	2	0	0	3	6	7	0	3	1	3			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr16:30531261G>T	ENST00000356798.6	+	30	3492	c.3312G>T	c.(3310-3312)ctG>ctT	p.L1104L	ITGAL_ENST00000358164.5_Silent_p.L1020L|ITGAL_ENST00000433423.2_Silent_p.L338L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1104					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)	TGCTGCTGCTGCTGCTCATTT	0.607																																					p.L1104L	NSCLC(110;1462 1641 3311 33990 49495)												.	.			0			c.G3312T												111	105	107					16																	30531261		2197	4300	6497	SO:0001819	synonymous_variant	3683	exon30			GCTGCTGCTGCTC		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.3312G>T	16.37:g.30531261G>T			29	0	0		24	0.13	3	NM_002209	15	0	0	O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	CCDS32433.1																																																																																					0.607	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434508.2				T	30531261	G	T	30531261	2	4	85	1	0	0	0	0	0	0	0	1	7901	1306	46	2		2	ITGAL	16	30531261	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	27340246	30531261	59823492	42	5979											
TEPP	374739	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	58011892	58011892	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggacagggacaccgtcAaggcctgccttcctgatgag	10	7	12	12	1	1	2	1	2	0	0	2	4	2	4	4	3	1	0	4	3	1	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr16:58011892A>C	ENST00000441824.2	+	2	374	c.337A>C	c.(337-339)Aag>Cag	p.K113Q	TEPP_ENST00000569996.1_Intron|TEPP_ENST00000290871.5_Missense_Mutation_p.K113Q	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	113						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GGACACCGTCAAGGCCTGCCT	0.632																																					p.K113Q													.	.			0			c.A337C												57	44	48					16																	58011892		2198	4300	6498	SO:0001583	missense	374739	exon2			ACCGTCAAGGCCT	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.337A>C	16.37:g.58011892A>C	ENSP00000401917:p.Lys113Gln		95	0	0		72	0.07	5	NM_199046	0		0	Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357108	0.24598	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.46819	0.86;0.87	4.36	4.36	0.52297	.	1.117080	0.06731	N	0.776588	T	0.44329	0.1288	M	0.63428	1.95	0.26406	N	0.976337	P;P	0.37276	0.589;0.589	B;B	0.33454	0.164;0.164	T	0.29941	-0.9995	10	0.18276	T	0.48	-15.5853	10.2416	0.43316	1.0:0.0:0.0:0.0	.	113;113	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	Q	113	ENSP00000290871:K113Q;ENSP00000401917:K113Q	ENSP00000290871:K113Q	K	+	1	0	TEPP	56569393	0.004000	0.15560	0.944000	0.38274	0.854000	0.48673	1.114000	0.31196	1.724000	0.51502	0.346000	0.21813	AAG			0.632	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000431966.1		NM_199456		C	58011892	A	C	58011892	3	2	85	1	0	0	0	0	1	0	0	0	15783	131	5	4	343	4	TEPP	16	58011892	Missense_Mutation	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10	27480631	58011892	32342861	43	5980											
C16orf70	80262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67165195	67165195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaacttttttttaggtgatcGaagtatgtgatttgactaaa	13	17	8	3	1	0	3	0	3	0	0	1	4	0	3	0	1	1	1	0	1	6	7			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr16:67165195G>C	ENST00000219139.3	+	4	426	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q	C16orf70_ENST00000569600.1_Missense_Mutation_p.E80Q|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	80										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)		TTAGGTGATCGAAGTATGTGA	0.289																																					p.E80Q													.	.			0			c.G238C												86	82	83					16																	67165195		2198	4299	6497	SO:0001583	missense	80262	exon4			GTGATCGAAGTAT	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.238G>C	16.37:g.67165195G>C	ENSP00000219139:p.Glu80Gln		215	0	0		182	0.11	20	NM_025187	10	0	0	Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868156	0.51588	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.83207	0.5204	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	D	0.84704	0.0730	9	0.87932	D	0	-0.482	17.7204	0.88349	0.0:0.0:1.0:0.0	.	58;80	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	Q	80	.	ENSP00000219139:E80Q	E	+	1	0	C16orf70	65722696	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.055000	0.89453	2.769000	0.95229	0.655000	0.94253	GAA			0.289	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268829.2		NM_025187		C	67165195	G	C	67165195	3	2	85	1	0	0	0	0	1	0	0	0	1831	1059	37	5	252	5	C16orf70	16	67165195	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	9153303	67165195	23189558	44	5981											
ST3GAL2	6483	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	70415679	70415679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgcgtcgtgcacgccagtCttccggaactcgcccgcgta	5	8	11	17	8	1	0	0	0	1	0	5	1	3	1	4	1	2	2	4	1	2	2			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr16:70415679C>G	ENST00000393640.4	-	6	3073	c.966G>C	c.(964-966)aaG>aaC	p.K322N	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.K322N			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	322					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|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)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				GCACGCCAGTCTTCCGGAACT	0.662																																					p.K322N													.	.			0			c.G966C												81	70	74					16																	70415679		2198	4300	6498	SO:0001583	missense	6483	exon7			GCCAGTCTTCCGG	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"Sialyltransferases"	10863	protein-coding gene	gene with protein product		607188	"sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.966G>C	16.37:g.70415679C>G	ENSP00000377257:p.Lys322Asn		126	0	0		141	0.16	23	NM_006927	26	0.19	5	O00654	Missense_Mutation	SNP	ENST00000393640.4	37	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	c	19.36	3.813249	0.70912	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.31247	1.5;1.5	6.07	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.55990	1.75	0.58432	D	0.999999	D	0.53151	0.958	P	0.55011	0.766	T	0.15122	-1.0448	10	0.18276	T	0.48	-18.25	11.3972	0.49849	0.0:0.8628:0.0:0.1372	.	322	Q16842	SIA4B_HUMAN	N	322	ENSP00000345477:K322N;ENSP00000377257:K322N	ENSP00000345477:K322N	K	-	3	2	ST3GAL2	68973180	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.973000	0.49264	1.592000	0.50018	-0.235000	0.12190	AAG			0.662	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268968.1		NM_006927		G	70415679	C	G	70415679	3	3	85	1	0	0	0	0	1	0	0	0	15238	912	32	5	90	5	ST3GAL2	16	70415679	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	3250484	70415679	19939074	45	5982											
CDYL2	124359	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	80718479	80718479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgattcacgtcacattcaCccatatcttgctctccaaca	10	12	4	15	2	5	1	3	1	2	0	6	1	5	1	2	0	2	1	2	0	2	4			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr16:80718479C>T	ENST00000570137.2	-	2	727	c.572G>A	c.(571-573)gGt>gAt	p.G191D	CDYL2_ENST00000566173.1_Missense_Mutation_p.G191D|CDYL2_ENST00000563890.1_Missense_Mutation_p.G191D|CDYL2_ENST00000562753.1_5'Flank|CDYL2_ENST00000562812.1_Missense_Mutation_p.G191D	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	191						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						GTCACATTCACCCATATCTTG	0.527																																					p.G191D													.	.			0			c.G572A												141	118	126					16																	80718479		2203	4300	6503	SO:0001583	missense	124359	exon2			CATTCACCCATAT	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.572G>A	16.37:g.80718479C>T	ENSP00000476295:p.Gly191Asp		121	0	0		115	0.06	7	NM_152342	1	0	0	Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	C	4.918	0.170578	0.09391	.	.	ENSG00000166446	ENST00000299564	T	0.57436	0.4	5.14	1.87	0.25490	.	0.689975	0.13789	N	0.362631	T	0.33585	0.0868	N	0.19112	0.55	0.09310	N	1	B	0.19935	0.04	B	0.22601	0.04	T	0.19128	-1.0315	10	0.31617	T	0.26	.	6.8926	0.24238	0.0:0.5323:0.3237:0.144	.	191	Q8N8U2	CDYL2_HUMAN	D	191	ENSP00000299564:G191D	ENSP00000299564:G191D	G	-	2	0	CDYL2	79275980	0.002000	0.14202	0.231000	0.23993	0.057000	0.15508	0.389000	0.20751	0.715000	0.32103	-0.282000	0.10007	GGT			0.527	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434727.2		NM_152342		T	80718479	C	T	80718479	3	4	85	1	0	0	0	0	1	0	0	0	3188	507	18	3	972	3	CDYL2	16	80718479	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	10302800	80718479	9636274	46	5983											
NLRP1	22861	mdanderson.org	37	chr17	5440172	5440172	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgggtccccccttaccGtctgctgaagatgagcagct	6	11	11	13	1	2	3	0	2	2	1	3	3	3	3	4	1	4	4	4	1	2	2	rs199748129		TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr17:5440172G>T	ENST00000572272.1	-	8	2958	c.2959C>A	c.(2959-2961)Cgg>Agg	p.R987R	NLRP1_ENST00000269280.4_Splice_Site_p.R987R|NLRP1_ENST00000262467.5_Splice_Site_p.R987R|NLRP1_ENST00000345221.3_Splice_Site_p.R987R|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	987					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)	p.R987W(1)		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)				CCCCCTTACCGTCTGCTGAAG	0.587																																					p.R987R													NLRP1,colon,carcinoma,0,1	NLRP1	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2959A												74	61	65					17																	5440172		2203	4300	6503	SO:0001630	splice_region_variant	22861	exon8			CTTACCGTCTGCT	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.2960+1C>A	17.37:g.5440172G>T			67	0	0		38	0.08	3	NM_014922	2	0	0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																					0.587	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439517.1		NM_033004	Silent	T	5440172	G	T	5440172	5	4	85	1	0	0	0	0	0	0	1	0	10488	1159	40	1	1577	1	NLRP1	17	5440172	Splice_Site	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		5440172	75755038	47	5984											
ALOX12B	242	mdanderson.org	37	chr17	7984268	7984268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggaatgtgcacatagctgGgcaggccaggaagaaagact	13	6	15	7	0	0	2	0	0	0	2	0	4	0	4	1	4	2	3	1	4	4	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr17:7984268G>T	ENST00000319144.4	-	4	721	c.461C>A	c.(460-462)cCc>cAc	p.P154H	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	154	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						CACATAGCTGGGCAGGCCAGG	0.642										Multiple Myeloma(8;0.094)																											p.P154H													.	.			0			c.C461A												72	68	69					17																	7984268		2203	4300	6503	SO:0001583	missense	242	exon4			TAGCTGGGCAGGC	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.461C>A	17.37:g.7984268G>T	ENSP00000315167:p.Pro154His		60	0	0		42	0.07	3	NM_001139	0		0		Missense_Mutation	SNP	ENST00000319144.4	37	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211118	0.58343	.	.	ENSG00000179477	ENST00000319144	D	0.90385	-2.66	4.78	4.78	0.61160	Lipoxygenase, C-terminal (2);	0.097537	0.41938	D	0.000797	D	0.94185	0.8134	M	0.65498	2.005	0.38514	D	0.94855	D	0.89917	1.0	D	0.97110	1.0	D	0.95288	0.8392	10	0.87932	D	0	-26.3805	13.7238	0.62745	0.0:0.0:1.0:0.0	.	154	O75342	LX12B_HUMAN	H	154	ENSP00000315167:P154H	ENSP00000315167:P154H	P	-	2	0	ALOX12B	7924993	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	4.651000	0.61447	2.382000	0.81193	0.555000	0.69702	CCC			0.642	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226984.3				T	7984268	G	T	7984268	3	4	85	1	0	0	0	0	1	0	0	0	537	1232	43	3	1692	3	ALOX12B	17	7984268	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	2544096	7984268	73210942	48	5985											
TBC1D29	26083	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	28887161	28887161	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggtctatgcacacagggTtcctcattcagctggcttct	8	12	10	11	0	4	0	2	0	2	0	5	1	5	0	1	3	2	4	1	3	2	4			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr17:28887161T>C	ENST00000580161.1	+	3	2536	c.39T>C	c.(37-39)ggT>ggC	p.G13G	RP11-218M11.6_ENST00000582125.1_RNA|TBC1D29_ENST00000579181.1_Silent_p.G13G|TBC1D29_ENST00000584297.1_Silent_p.G13G			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	13	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GCACACAGGGTTCCTCATTCA	0.602																																					p.G13G													.	TBC1D29	19		0			c.T39C												52	48	49					17																	28887161		2203	4300	6503	SO:0001819	synonymous_variant	26083	exon2			ACAGGGTTCCTCA	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.39T>C	17.37:g.28887161T>C			237	0.0042194093	1		206	0.23	47	NM_015594	0		0		Silent	SNP	ENST00000580161.1	37	CCDS32606.1																																																																																					0.602	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000443632.1		NM_015594		C	28887161	T	C	28887161	2	2	85	1	0	0	0	0	0	0	0	1	15641	1712	60	4		4	TBC1D29	17	28887161	Silent	SNP	T	TCGA-4K-AAAL-01A-11D-A435-10	20902893	28887161	52308049	49	5986											
MAP3K3	4215	mdanderson.org	37	chr17	61729923	61729923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtttcttttcagaattatAgcgttcagccggcctgtgaa	8	15	9	9	2	3	2	2	1	1	1	3	2	3	2	2	1	2	2	2	1	4	6			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr17:61729923A>G	ENST00000361733.3	+	4	494	c.174A>G	c.(172-174)atA>atG	p.I58M	MAP3K3_ENST00000579585.1_Missense_Mutation_p.I89M|MAP3K3_ENST00000577395.1_Missense_Mutation_p.I58M|MAP3K3_ENST00000584573.1_Missense_Mutation_p.I89M|MAP3K3_ENST00000361357.3_Missense_Mutation_p.I89M	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	58	OPR.				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						TCAGAATTATAGCGTTCAGCC	0.368																																					p.I89M													.	.			0			c.A267G												144	129	134					17																	61729923		2203	4300	6503	SO:0001583	missense	4215	exon5			AATTATAGCGTTC	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.174A>G	17.37:g.61729923A>G	ENSP00000354485:p.Ile58Met		63	0	0		45	0.07	3	NM_203351	4	0	0	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	A	7.843	0.722402	0.15439	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.51817	0.69;0.69	5.76	0.143	0.14820	Phox/Bem1p (2);	0.057393	0.64402	D	0.000001	T	0.42585	0.1209	L	0.54323	1.7	0.41319	D	0.987164	B;B;B;P	0.36378	0.287;0.287;0.287;0.55	B;B;B;B	0.41666	0.363;0.363;0.363;0.292	T	0.36578	-0.9742	10	0.54805	T	0.06	.	8.0308	0.30463	0.4166:0.4002:0.0:0.1832	.	58;26;58;89	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	M	89;58	ENSP00000354927:I89M;ENSP00000354485:I58M	ENSP00000354927:I89M	I	+	3	3	MAP3K3	59083655	0.609000	0.26975	0.985000	0.45067	0.756000	0.42949	0.082000	0.14847	0.390000	0.25115	0.533000	0.62120	ATA			0.368	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000443867.1		NM_002401		G	61729923	A	G	61729923	3	3	85	1	0	0	0	0	1	0	0	0	9267	410	15	4	285	4	MAP3K3	17	61729923	Missense_Mutation	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10	32842762	61729923	19465287	50	5987											
TNRC6C	57690	mdanderson.org	37	chr17	76063992	76063992	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggggaacgcccccaaaaaAggacttcaaaaggtaagtac	16	5	11	9	1	1	0	1	0	0	0	1	2	1	2	2	4	2	2	2	4	8	3			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr17:76063992A>G	ENST00000588061.1	+	7	3493	c.2766A>G	c.(2764-2766)aaA>aaG	p.K922K	TNRC6C_ENST00000588847.1_Silent_p.K919K|TNRC6C_ENST00000301624.4_Silent_p.K922K|TNRC6C_ENST00000544502.1_Silent_p.K919K|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000335749.4_Silent_p.K919K|TNRC6C_ENST00000541771.1_Silent_p.K922K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	922	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCCCAAAAAAGGACTTCAAA	0.478																																					p.K922K													.	.			0			c.A2766G												83	85	84					17																	76063992		1927	4130	6057	SO:0001819	synonymous_variant	57690	exon6			CAAAAAAGGACTT	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2766A>G	17.37:g.76063992A>G			59	0	0		54	0.06	3	NM_018996	12	0	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																					0.478	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000395947.1		NM_018996		G	76063992	A	G	76063992	2	3	85	1	0	0	0	0	0	0	0	1	16365	69	3	4		4	TNRC6C	17	76063992	Silent	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10	14334069	76063992	5131218	51	5988											
PGS1	9489	mdanderson.org	37	chr17	76396833	76396833	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactgtgcggagattgcCgacttcttcacggagctggt	7	10	14	10	3	2	1	1	0	1	1	2	5	2	3	1	4	3	1	1	4	0	3			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr17:76396833C>A	ENST00000262764.6	+	6	803	c.777C>A	c.(775-777)gcC>gcA	p.A259A	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Silent_p.A124A|SNORA30_ENST00000363193.1_RNA	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	259					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CGGAGATTGCCGACTTCTTCA	0.602																																					p.A259A	Esophageal Squamous(45;182 1126 10685 43198)												.	.			0			c.C777A												110	117	115					17																	76396833		2157	4253	6410	SO:0001819	synonymous_variant	9489	exon6			GATTGCCGACTTC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.777C>A	17.37:g.76396833C>A			64	0	0		51	0.06	3	NM_024419	26	0	0	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Silent	SNP	ENST00000262764.6	37	CCDS42391.1																																																																																					0.602	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437301.1		NM_024419		A	76396833	C	A	76396833	2	1	85	1	0	0	0	0	0	0	0	1	11825	639	23	1		1	PGS1	17	76396833	Silent	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	332841	76396833	4798377	52	5989											
CHAF1A	10036	broad.mit.edu	37	chr19	4422659	4422661	+	In_Frame_Del	DEL	AAG	AAG	-																															agcgggccaaggaggaggccAagaagaagaaggaggaagag																										TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr19:4422659_4422661delAAG	ENST00000301280.5	+	5	1215_1217	c.1114_1116delAAG	c.(1114-1116)aagdel	p.K375del		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	375	Arg/Glu/Lys-rich.				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)		GGAGGAGGCCAagaagaagaagg	0.557								Chromatin Structure																													p.372_372del													.	CHAF1A	69		0			c.1114_1116del																																									SO:0001651	inframe_deletion	10036	exon5			GAGGCCAAGAAGA	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.1114_1116delAAG	19.37:g.4422668_4422670delAAG	ENSP00000301280:p.Lys375del		118	0	0		130	0.05	7	NM_005483	33	0	0	Q6NXG5|Q7Z7K3|Q9UJY8	In_Frame_Del	DEL	ENST00000301280.5	37	CCDS32875.1																																																																																					0.557	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458310.2		NM_005483		-	4422661	AAG	-	4422659	7	5	85	1	0	1	0	1	0	0	0	0	3313	131	5	0	1132	0	CHAF1A	19	4422659	In_Frame_Del	DEL	AAG	TCGA-4K-AAAL-01A-11D-A435-10		4422659	54706324	53	5990											
EMR1	2015	broad.mit.edu	37	chr19	6904062	6904062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatattgatgagtgccGccaagatccatcaacctgtg	11	10	10	10	1	1	4	1	2	0	2	2	4	2	4	4	0	3	1	4	0	3	2	rs528274667		TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr19:6904062G>A	ENST00000312053.4	+	8	855	c.818G>A	c.(817-819)cGc>cAc	p.R273H	EMR1_ENST00000250572.8_Missense_Mutation_p.R273H|EMR1_ENST00000381407.5_Missense_Mutation_p.R132H|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.R221H	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	273	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GATGAGTGCCGCCAAGATCCA	0.473													G|||	0	0	0	0	5008	,	,		19963	0		0	False		,,,				2504	0				p.R273H													.	EMR1	153		0			c.G818A												100	95	97					19																	6904062		2203	4300	6503	SO:0001583	missense	2015	exon8			AGTGCCGCCAAGA	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.818G>A	19.37:g.6904062G>A	ENSP00000311545:p.Arg273His		98	0	0		126	0.03	4	NM_001256253	0		0	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809819	0.31961	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	4.06	-8.13	0.01073	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.88522	0.6459	N	0.25992	0.78	0.09310	N	1	P;D;D;D	0.65815	0.884;0.984;0.989;0.995	B;P;P;P	0.57548	0.179;0.536;0.756;0.823	D	0.83852	0.0263	9	0.46703	T	0.11	.	8.6338	0.33935	0.0:0.152:0.224:0.6239	.	132;273;221;273	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	H	273;273;221;273;132	ENSP00000311545:R273H;ENSP00000370811:R221H;ENSP00000250572:R273H;ENSP00000370814:R132H	ENSP00000250572:R273H	R	+	2	0	EMR1	6855062	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.052000	0.01401	-1.890000	0.01111	-1.753000	0.00675	CGC			0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458485.1				A	6904062	G	A	6904062	3	1	85	1	0	0	0	0	1	0	0	0	5111	1087	38	1	848	1	EMR1	19	6904062	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	2481403	6904062	52224921	54	5991											
MAG	4099	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	35790581	35790581	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgggccacgaggggctGggggagcccgctgtgctggg	3	6	22	10	2	0	0	0	0	0	0	0	2	0	1	2	7	2	4	2	7	0	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr19:35790581G>T	ENST00000392213.3	+	5	699	c.540G>T	c.(538-540)ctG>ctT	p.L180L	MAG_ENST00000597035.1_3'UTR|MAG_ENST00000537831.2_Silent_p.L155L|MAG_ENST00000361922.4_Silent_p.L180L	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	180	Ig-like C2-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACGAGGGGCTGGGGGAGCCCG	0.706																																					p.L180L													.	.			0			c.G540T												13	16	15					19																	35790581		2194	4293	6487	SO:0001819	synonymous_variant	4099	exon5			GGGGCTGGGGGAG	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.540G>T	19.37:g.35790581G>T			43	0	0		46	0.15	7	NM_080600	0		0	B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	CCDS12455.1																																																																																					0.706	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000466071.1		NM_080600		T	35790581	G	T	35790581	2	4	85	1	0	0	0	0	0	0	0	1	9178	1335	47	3		3	MAG	19	35790581	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	28886519	35790581	23338402	55	5992											
LMTK3	114783	broad.mit.edu	37	chr19	49001926	49001926	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggctccctctggggaaaaAggggtctcggtctcgtagcc	8	8	14	11	2	3	0	0	0	3	0	6	1	4	1	2	6	1	2	2	6	4	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr19:49001926A>G	ENST00000600059.1	-	11	2627	c.2400T>C	c.(2398-2400)ccT>ccC	p.P800P	LMTK3_ENST00000270238.3_Silent_p.P829P			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	800	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)		CTGGGGAAAAAGGGGTCTCGG	0.766																																					p.P829P													.	LMTK3	125		0			c.T2487C												2	2	2					19																	49001926		935	2373	3308	SO:0001819	synonymous_variant	114783	exon12			GGAAAAAGGGGTC	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.2400T>C	19.37:g.49001926A>G			63	0.0158730159	1		53	0.06	3	NM_001080434	4	0	0	Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																						0.766	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000466137.1		NM_052895		G	49001926	A	G	49001926	2	3	85	1	0	0	0	0	0	0	0	1	8875	59	3	4		4	LMTK3	19	49001926	Silent	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10	13211345	49001926	10127057	56	5993											
SPACA4	171169	broad.mit.edu;mdanderson.org	37	chr19	49110410	49110410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtcgccccgggcactggtCcggtcatcaacaaaggctgc	7	6	14	14	3	2	0	2	0	0	0	4	0	3	0	3	5	2	2	3	5	2	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr19:49110410C>T	ENST00000321762.1	+	1	411	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	59	UPAR/Ly6 1.				cell adhesion (GO:0007155)	anchored component of membrane (GO:0031225)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		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;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGGCACTGGTCCGGTCATCAA	0.632																																					p.P59S													.	SPACA4	9		0			c.C175T												50	48	49					19																	49110410		2203	4300	6503	SO:0001583	missense	171169	exon1			ACTGGTCCGGTCA		CCDS12725.1	19q13.33	2013-10-24			ENSG00000177202	ENSG00000177202			16441	protein-coding gene	gene with protein product		609932					Standard	NM_133498		Approved	SAMP14	uc002pjo.3	Q8TDM5	OTTHUMG00000183316	ENST00000321762.1:c.175C>T	19.37:g.49110410C>T	ENSP00000312774:p.Pro59Ser		51	0	0		46	0.09	4	NM_133498	0		0		Missense_Mutation	SNP	ENST00000321762.1	37	CCDS12725.1	.	.	.	.	.	.	.	.	.	.	C	7.549	0.662224	0.14645	.	.	ENSG00000177202	ENST00000321762	T	0.67345	-0.26	5.19	2.98	0.34508	CD59 antigen (1);	0.639404	0.15665	N	0.250672	T	0.66426	0.2788	M	0.63428	1.95	0.09310	N	1	P	0.38300	0.626	B	0.43413	0.419	T	0.59710	-0.7403	10	0.87932	D	0	-16.9569	8.6458	0.34005	0.1734:0.6597:0.167:0.0	.	59	Q8TDM5	SACA4_HUMAN	S	59	ENSP00000312774:P59S	ENSP00000312774:P59S	P	+	1	0	SPACA4	53802222	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-0.100000	0.10990	0.662000	0.31006	0.591000	0.81541	CCG			0.632	SPACA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466149.1		NM_133498		T	49110410	C	T	49110410	3	4	85	1	0	0	0	0	1	0	0	0	14997	855	30	3	177	3	SPACA4	19	49110410	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	108484	49110410	10018573	57	5994											
TULP2	7288	mdanderson.org	37	chr19	49399726	49399726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccgcagacaagagcGccaaagccacggggaagcgt	11	3	12	15	4	0	2	0	0	0	2	2	3	2	3	4	2	3	1	4	2	3	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr19:49399726G>A	ENST00000221399.3	-	4	316	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	58					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)		AGACAAGAGCGCCAAAGCCAC	0.637																																					p.R58C													.	.			0			c.C172T												45	47	46					19																	49399726		2203	4300	6503	SO:0001583	missense	7288	exon4			AAGAGCGCCAAAG	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.172C>T	19.37:g.49399726G>A	ENSP00000221399:p.Arg58Cys		56	0	0		48	0.06	3	NM_003323	0		0	Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323221	0.60634	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977;ENST00000522229	D;T;T;T	0.86562	-2.14;1.52;0.82;0.27	5.03	2.78	0.32641	Tubby, N-terminal (1);	0.678460	0.13857	N	0.357935	D	0.88887	0.6559	L	0.56199	1.76	0.19300	N	0.999977	D	0.76494	0.999	P	0.57324	0.818	T	0.79313	-0.1855	10	0.56958	D	0.05	-1.6322	9.8786	0.41220	0.0:0.1519:0.6906:0.1575	.	58	O00295	TULP2_HUMAN	C	58;58;58;39;14	ENSP00000221399:R58C;ENSP00000428420:R58C;ENSP00000430040:R58C;ENSP00000428535:R39C	ENSP00000221399:R58C	R	-	1	0	TULP2	54091538	0.025000	0.19082	0.008000	0.14137	0.009000	0.06853	0.972000	0.29409	0.574000	0.29417	0.596000	0.82720	CGC			0.637	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378633.1		NM_003323		A	49399726	G	A	49399726	3	1	85	1	0	0	0	0	1	0	0	0	16798	1087	38	1	1430	1	TULP2	19	49399726	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	289316	49399726	9729257	58	5995											
POLD1	5424	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50918215	50918215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctcgtggccaacctggtCactgcctcactgcgccgcct	4	8	9	20	3	2	0	2	0	0	0	3	0	2	0	7	2	3	0	7	2	1	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr19:50918215C>T	ENST00000440232.2	+	20	2585	c.2532C>T	c.(2530-2532)gtC>gtT	p.V844V	CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Silent_p.V870V|POLD1_ENST00000599857.1_Silent_p.V844V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	844					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCAACCTGGTCACTGCCTCAC	0.701								DNA polymerases (catalytic subunits)																													p.V844V													.	.			0			c.C2532T												43	35	37					19																	50918215		2201	4297	6498	SO:0001819	synonymous_variant	5424	exon20			CCTGGTCACTGCC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2532C>T	19.37:g.50918215C>T			42	0	0		44	0.14	6	NM_002691	120	0.12	14	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																					0.701	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464732.1				T	50918215	C	T	50918215	2	4	85	1	0	0	0	0	0	0	0	1	12207	813	29	3		3	POLD1	19	50918215	Silent	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	1518489	50918215	8210768	59	5996											
ZNF343	79175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	2464083	2464083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgtcctctggtgtctgatGagatttgacttctggctaaa	7	15	11	8	1	3	3	0	3	3	1	4	4	4	3	1	2	1	1	1	2	2	3			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr20:2464083G>A	ENST00000278772.4	-	6	2011	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	508					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GGTGTCTGATGAGATTTGACT	0.493																																					p.L508L													.	.			0			c.C1524T												131	121	124					20																	2464083		2203	4300	6503	SO:0001819	synonymous_variant	79175	exon6			TCTGATGAGATTT	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1524C>T	20.37:g.2464083G>A			101	0	0		127	0.17	21	NM_024325	13	0	0	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	CCDS13028.1																																																																																					0.493	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077617.1		NM_024325		A	2464083	G	A	2464083	2	1	85	1	0	0	0	0	0	0	0	1	17881	1277	45	3		3	ZNF343	20	2464083	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		2464083	60561437	60	5997											
DUSP15	128853	ucsc.edu	37	chr20	30454893	30454893	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcagaggctggggtGactcatggatagagatgatg	10	8	16	7	0	1	4	1	2	0	2	1	6	1	5	1	4	2	3	1	4	1	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr20:30454893G>T	ENST00000278979.3	-	3	186	c.110C>A	c.(109-111)tCa>tAa	p.S37*	DUSP15_ENST00000375966.4_Nonsense_Mutation_p.S37*|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000339738.5_Nonsense_Mutation_p.S40*			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	37					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCTGGGGTGACTCATGGAT	0.517																																					p.S40X													.	DUSP15	28		0			c.C119A												126	100	109					20																	30454893		2203	4300	6503	SO:0001587	stop_gained	128853	exon3			TGGGGTGACTCAT		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16236	protein-coding gene	gene with protein product			"dual specificity phosphatase-like 15"			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.110C>A	20.37:g.30454893G>T	ENSP00000278979:p.Ser37*		39	0	0		38	0.11	4	NM_080611	26	0	0	A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	ENST00000278979.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	7.947778|7.947778	0.98577|0.98577	.|.	.|.	ENSG00000149599|ENSG00000149599	ENST00000375953;ENST00000428829|ENST00000278979;ENST00000339738;ENST00000375966	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.312255	.|0.29791	.|N	.|0.011187	T|.	0.35508|.	0.0934|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32322|.	-0.9911|.	4|.	0.87932|0.02654	D|T	0|1	.|.	14.6851|14.6851	0.69044|0.69044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	29|37;40;37	.|.	ENSP00000365120:H29N|ENSP00000278979:S37X	H|S	-|-	1|2	0|0	DUSP15|DUSP15	29918554|29918554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.199000|7.199000	0.77831|0.77831	2.243000|2.243000	0.73865|0.73865	0.313000|0.313000	0.20887|0.20887	CAC|TCA			0.517	DUSP15-004	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000078555.3		NM_080611		T	30454893	G	T	30454893	4	4	85	1	0	0	0	0	0	1	0	0	4820	1294	45	3	608	3	DUSP15	20	30454893	Nonsense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	27990810	30454893	32570627	61	5998											
MYH7B	26133	mdanderson.org	37	chr20	33589862	33589862	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaacaagctgcgggcaCggacccgggacgccctgggc	8	2	16	15	4	0	0	0	0	0	0	0	2	0	2	3	5	3	2	3	5	2	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr20:33589862C>T	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.R1972W			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GCTGCGGGCACGGACCCGGGA	0.652											OREG0025884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1972W													.	.			0			c.C5914T												41	53	49					20																	33589862		2183	4284	6467	SO:0001628	intergenic_variant	57644	exon44			CGGGCACGGACCC	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33589862C>T			43	0	0	841	46	0.07	3	NM_020884	9	0	0	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141320	0.77775	.	.	ENSG00000078814	ENST00000262873;ENST00000446156;ENST00000453028;ENST00000435272;ENST00000433934;ENST00000456649	T;T;T;T;T;T	0.79554	-1.19;-1.28;-1.19;-1.19;-1.19;-1.19	4.45	3.48	0.39840	Myosin tail (1);	0.000000	0.32593	N	0.005886	D	0.89670	0.6782	M	0.86651	2.83	0.41615	D	0.988939	D	0.76494	0.999	D	0.68765	0.96	D	0.91336	0.5093	10	0.87932	D	0	.	13.3567	0.60631	0.1642:0.8358:0.0:0.0	.	1930	A7E2Y1	MYH7B_HUMAN	W	1972;127;105;132;132;105	ENSP00000262873:R1972W;ENSP00000395858:R127W;ENSP00000409103:R105W;ENSP00000391939:R132W;ENSP00000412594:R132W;ENSP00000396368:R105W	ENSP00000262873:R1972W	R	+	1	2	MYH7B	33053523	0.992000	0.36948	0.978000	0.43139	0.994000	0.84299	2.982000	0.49337	1.038000	0.40049	0.561000	0.74099	CGG			0.652	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078832.2		NM_015638		T	33589862	C	T	33589862	1	4	85	0	1	0	0	0	0	0	0	0	10056	527	19	1		1	MYH7B	20	33589862	IGR	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	3134969	33589862	29435658	62	5999											
LAMA5	3911	mdanderson.org	37	chr20	60893995	60893995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgctccacctcggccaGtgtccggagcagctgctcac	6	6	11	18	3	1	0	1	0	0	0	4	1	3	1	5	2	4	4	5	2	0	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr20:60893995G>T	ENST00000252999.3	-	52	7012	c.6946C>A	c.(6946-6948)Ctg>Atg	p.L2316M		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2316	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			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)			ACCTCGGCCAGTGTCCGGAGC	0.687																																					p.L2316M													.	.			0			c.C6946A												9	11	11					20																	60893995		2154	4260	6414	SO:0001583	missense	3911	exon52			CGGCCAGTGTCCG	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.6946C>A	20.37:g.60893995G>T	ENSP00000252999:p.Leu2316Met		37	0	0		29	0.1	3	NM_005560	16	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	0.658	-0.806967	0.02819	.	.	ENSG00000130702	ENST00000252999	T	0.13089	2.62	4.25	0.859	0.19036	Laminin I (1);	0.278379	0.36972	U	0.002311	T	0.06280	0.0162	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.19391	0.025	T	0.30851	-0.9964	10	0.39692	T	0.17	.	7.7164	0.28706	0.0:0.1271:0.318:0.5549	.	2316	O15230	LAMA5_HUMAN	M	2316	ENSP00000252999:L2316M	ENSP00000252999:L2316M	L	-	1	2	LAMA5	60327390	0.020000	0.18652	0.275000	0.24674	0.011000	0.07611	0.026000	0.13599	0.268000	0.21939	-0.177000	0.13119	CTG			0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		T	60893995	G	T	60893995	3	4	85	1	0	0	0	0	1	0	0	0	8624	1020	36	3	4257	3	LAMA5	20	60893995	Missense_Mutation	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	27304133	60893995	2131525	63	6000											
KRTAP10-6	386674	ucsc.edu	37	chr21	46011987	46011987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatccccacagcagacggAcacacagcacacaggcttgc	14	3	9	15	1	0	2	0	0	0	2	1	3	1	3	2	2	3	3	2	2	1	1	rs201334923	byFrequency	TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr21:46011987A>G	ENST00000400368.1	-	1	399	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	127	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGCAGACGGACACACAGCAC	0.642													.|||	980	0.195687	0.3873	0.1282	5008	,	,		18410	0.2401		0.0855	False		,,,				2504	0.0521				p.S127P													.	KRTAP10-6	57		0			c.T379C							G	,PRO/SER	346,3600		9,328,1636	65	101	89		,379	-1.7	0	21	dbSNP_132	89	122,8214		6,110,4052	no	intron,missense	TSPEAR,KRTAP10-6	NM_144991.2,NM_198688.2	,74	15,438,5688	GG,GA,AA		1.4635,8.7684,3.8105	,benign	,127/366	46011987	468,11814	1973	4168	6141	SO:0001583	missense	386674	exon1			AGACGGACACACA	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.379T>C	21.37:g.46011987A>G	ENSP00000383219:p.Ser127Pro		74	0.2702702703	20		72	0.39	28	NM_198688	0		0		Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	g	0.017	-1.506709	0.00992	0.087684	0.014635	ENSG00000188155	ENST00000400368	T	0.01397	4.94	2.44	-1.71	0.08133	.	.	.	.	.	T	0.00039	0.0001	N	0.00793	-1.18	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39522	-0.9610	8	0.02654	T	1	.	2.6267	0.04931	0.3892:0.0:0.2528:0.358	.	127	P60371	KR106_HUMAN	P	127	ENSP00000383219:S127P	ENSP00000383219:S127P	S	-	1	0	KRTAP10-6	44836415	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.886000	0.04157	-0.713000	0.04981	-1.032000	0.02404	TCC			0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128037.1		NM_198688		G	46011987	A	G	46011987	3	3	85	1	0	0	0	0	1	0	0	0	8528	275	10	4	722	4	KRTAP10-6	21	46011987	Missense_Mutation	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10		46011987	2117908	64	6001											
PLXNB2	23654	mdanderson.org	37	chr22	50727515	50727515	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcctctgagcccgtcgcgGctgcccagcgggtagggcag	4	6	17	14	4	1	1	0	1	1	0	2	1	1	1	3	3	4	3	3	3	1	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chr22:50727515G>A	ENST00000449103.1	-	4	1265	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	PLXNB2_ENST00000359337.4_Silent_p.S375S|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	375	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)		GCCCGTCGCGGCTGCCCAGCG	0.667																																					p.S375S													.	.			0			c.C1125T												12	15	14					22																	50727515		2039	4185	6224	SO:0001819	synonymous_variant	23654	exon4			GTCGCGGCTGCCC		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.1125C>T	22.37:g.50727515G>A			30	0	0		31	0.1	3	NM_012401	3	0	0	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1																																																																																					0.667	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316874.3		NM_012401		A	50727515	G	A	50727515	2	1	85	1	0	0	0	0	0	0	0	1	12141	1194	42	2		2	PLXNB2	22	50727515	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10		50727515	577051	65	6002											
AR	367	hgsc.bcm.edu;broad.mit.edu	37	chrX	66766356	66766356	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggtggtgggggtggTggcggcggcggcggcggcgg	0	7	28	6	6	0	0	0	0	0	0	0	0	0	0	0	13	0	0	0	13	0	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chrX:66766356T>C	ENST00000374690.3	+	1	1892	c.1368T>C	c.(1366-1368)ggT>ggC	p.G456G	AR_ENST00000396044.3_Silent_p.G456G|AR_ENST00000504326.1_Silent_p.G456G|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	454	Modulating.|Poly-Gly.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|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)|RNA polymerase II transcription factor binding (GO:0001085)|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)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	gtgggggtggtggcggcggcg	0.741									Androgen Insensitivity Syndrome																												p.G456G													.	.			0			c.T1368C												1	2	2					X																	66766356		861	1905	2766	SO:0001819	synonymous_variant	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	GGGTGGTGGCGGC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1368T>C	X.37:g.66766356T>C			9	0	0		21	0.19	4	NM_000044	0		0	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	CCDS14387.1																																																																																					0.741	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057007.1		NM_000044		C	66766356	T	C	66766356	2	2	85	1	0	0	0	0	0	0	0	1	836	1683	59	4		4	AR	23	66766356	Silent	SNP	T	TCGA-4K-AAAL-01A-11D-A435-10		66766356	88504204	66	6003											
MAGEC1	9947	broad.mit.edu	37	chrX	140994163	140994163	+	Nonsense_Mutation	SNP	A	A	T																															ttttccagagttcccctgagAgaactcacagtacttttgag																										TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chrX:140994163A>T	ENST00000285879.4	+	4	1259	c.973A>T	c.(973-975)Aga>Tga	p.R325*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	325										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)					TTCCCCTGAGAGAACTCACAG	0.468										HNSCC(15;0.026)																											p.R325X													.	MAGEC1	317		0			c.A973T												119	118	118					X																	140994163		2191	4272	6463	SO:0001587	stop_gained	9947	exon4			CCTGAGAGAACTC	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.973A>T	X.37:g.140994163A>T	ENSP00000285879:p.Arg325*		109	0	0		174	0.02	4	NM_005462	0		0	A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	15.28	2.787601	0.49997	.	.	ENSG00000155495	ENST00000285879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.4884	0.02451	0.3397:0.3297:0.0:0.3306	.	.	.	.	X	325	.	ENSP00000285879:R325X	R	+	1	2	MAGEC1	140821829	0.093000	0.21703	0.006000	0.13384	0.007000	0.05969	-1.459000	0.02370	-2.222000	0.00727	-2.219000	0.00296	AGA			0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058604.1		NM_005462		T	140994163	A	T	140994163	4	4	85	1	0	0	0	0	0	1	0	0	9196	296	11	5	979	5	MAGEC1	23	140994163	Nonsense_Mutation	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10	74227807	140994163	14276397	67	6004	12	2									
MAGEC1	9947	broad.mit.edu	37	chrX	140994165	140994165	+	Missense_Mutation	SNP	A	A	T																															ttccagagttcccctgagagAactcacagtacttttgaggg																										TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chrX:140994165A>T	ENST00000285879.4	+	4	1261	c.975A>T	c.(973-975)agA>agT	p.R325S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	325										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)					CCCCTGAGAGAACTCACAGTA	0.468										HNSCC(15;0.026)																											p.R325S													.	MAGEC1	317		0			c.A975T												117	117	117					X																	140994165		2194	4274	6468	SO:0001583	missense	9947	exon4			TGAGAGAACTCAC	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.975A>T	X.37:g.140994165A>T	ENSP00000285879:p.Arg325Ser		112	0.0089285714	1		181	0.03	5	NM_005462	0		0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	0.891	-0.725628	0.03158	.	.	ENSG00000155495	ENST00000285879	T	0.02216	4.39	.	.	.	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46219	-0.9207	8	0.22706	T	0.39	.	3.3541	0.07163	0.3532:0.0:0.0:0.6468	.	325	O60732	MAGC1_HUMAN	S	325	ENSP00000285879:R325S	ENSP00000285879:R325S	R	+	3	2	MAGEC1	140821831	0.103000	0.21917	0.008000	0.14137	0.008000	0.06430	1.451000	0.35145	-2.383000	0.00592	-2.380000	0.00233	AGA			0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058604.1		NM_005462		T	140994165	A	T	140994165	3	4	85	1	0	0	0	0	1	0	0	0	9196	243	9	5	981	5	MAGEC1	23	140994165	Missense_Mutation	SNP	A	TCGA-4K-AAAL-01A-11D-A435-10	2	140994165	14276395	68	6005	12	2									
MAGEA11	4110	mdanderson.org	37	chrX	148794834	148794834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagggatggagactcagttCcgcagagggggtctggggtg	7	8	20	6	1	2	3	1	1	1	2	3	5	3	4	1	6	0	2	1	6	0	1			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chrX:148794834C>A	ENST00000355220.5	+	2	117	c.15C>A	c.(13-15)ttC>ttA	p.F5L	MAGEA11_ENST00000333104.4_Intron	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	5						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)					AGACTCAGTTCCGCAGAGGGG	0.597																																					p.F5L													.	.			0			c.C15A												80	68	72					X																	148794834		2203	4300	6503	SO:0001583	missense	4110	exon2			TCAGTTCCGCAGA		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.15C>A	X.37:g.148794834C>A	ENSP00000347358:p.Phe5Leu		34	0	0		34	0.09	3	NM_005366	2	0	0	Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	1.423	-0.572214	0.03882	.	.	ENSG00000185247	ENST00000355220	T	0.02140	4.43	0.836	-1.67	0.08238	.	.	.	.	.	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46857	-0.9161	8	0.02654	T	1	.	.	.	.	.	5	P43364	MAGAB_HUMAN	L	5	ENSP00000347358:F5L	ENSP00000347358:F5L	F	+	3	2	MAGEA11	148579571	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.594000	0.00420	-2.647000	0.00426	-1.134000	0.01955	TTC			0.597	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058725.4		NM_005366		A	148794834	C	A	148794834	3	1	85	1	0	0	0	0	1	0	0	0	9181	854	30	3	30	3	MAGEA11	23	148794834	Missense_Mutation	SNP	C	TCGA-4K-AAAL-01A-11D-A435-10	7800669	148794834	6475726	69	6006											
HMGB3	3149	mdanderson.org	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-4K-AAAL-01A-11D-A435-10	TCGA-4K-AAAL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1fd2755d-4d01-429c-8104-5e08621da1a3	405246d8-d554-4802-b3ec-6238c11edb2e	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				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)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																					p.E192E													.	.			1	Substitution - coding silent(1)	large_intestine(1)	c.G576A												50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149	exon5			AGAAGAGGAGGAG	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.576G>A	X.37:g.150156360G>A			9	0	0		21	0.1	2	NM_005342	91	0.04	4	O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	CCDS35428.1																																																																																					0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060867.1		NM_005342		A	150156360	G	A	150156360	2	1	85	1	0	0	0	0	0	0	0	1	7242	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-4K-AAAL-01A-11D-A435-10	1361526	150156360	5114200	70	6007											
BCAN	63827	mdanderson.org	37	chr1	156617454	156617454	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcaatgtgatgctggctgGctgtcggatcagaccgtgag	8	9	16	8	2	1	3	1	2	0	1	2	5	1	4	1	3	2	4	1	3	1	0			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr1:156617454G>A	ENST00000329117.5	+	4	957	c.621G>A	c.(619-621)tgG>tgA	p.W207*	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.W207*|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	207	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCTGGCTGGCTGTCGGATC	0.662																																					p.W207X													.	.			0			c.G621A												80	85	83					1																	156617454		2203	4300	6503	SO:0001587	stop_gained	63827	exon4			TGGCTGGCTGTCG	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.621G>A	1.37:g.156617454G>A	ENSP00000331210:p.Trp207*		44	0	0		50	0.06	3	NM_021948	3	0	0	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Nonsense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224498	0.95139	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	.	.	.	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4934	15.4434	0.75208	0.0:0.0:1.0:0.0	.	.	.	.	X	207;207;105;207	.	ENSP00000331210:W207X	W	+	3	0	BCAN	154884078	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.564000	0.98151	2.196000	0.70406	0.455000	0.32223	TGG			0.662	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000081844.2		NM_021948		A	156617454	G	A	156617454	4	1	86	1	0	0	0	0	0	1	0	0	1345	1212	42	2	631	2	BCAN	1	156617454	Nonsense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		156617454	92633167	1	6008											
ADAM17	6868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	9661415	9661415	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagtgcttttcaccaggttTtacctcttgtggagacttga	7	16	10	8	0	2	2	1	1	1	1	2	3	2	2	2	2	2	3	2	2	2	7			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr2:9661415T>G	ENST00000310823.3	-	8	1056	c.874A>C	c.(874-876)Aaa>Caa	p.K292Q		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	292	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|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 chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCACCAGGTTTTACCTCTTGT	0.378																																					p.K292Q													.	.			0			c.A874C												221	205	211					2																	9661415		2203	4300	6503	SO:0001583	missense	6868	exon8			CAGGTTTTACCTC	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.874A>C	2.37:g.9661415T>G	ENSP00000309968:p.Lys292Gln		121	0	0		141	0.29	41	NM_003183	73	0.4	29	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172496	0.38315	.	.	ENSG00000151694	ENST00000310823	D	0.86627	-2.15	5.63	5.63	0.86233	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.293133	0.42548	D	0.000688	T	0.70316	0.3210	N	0.05306	-0.075	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.65327	-0.6195	10	0.14252	T	0.57	.	8.5283	0.33317	0.0:0.0697:0.1316:0.7986	.	292;292	B2RNB2;P78536	.;ADA17_HUMAN	Q	292	ENSP00000309968:K292Q	ENSP00000309968:K292Q	K	-	1	0	ADAM17	9578866	0.146000	0.22672	1.000000	0.80357	0.996000	0.88848	2.304000	0.43655	2.276000	0.75962	0.454000	0.30748	AAA			0.378	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206857.1				G	9661415	T	G	9661415	3	3	86	1	0	0	0	0	1	0	0	0	238	1850	64	4	1648	4	ADAM17	2	9661415	Missense_Mutation	SNP	T	TCGA-S6-A8JW-01A-11D-A435-10		9661415	233537958	2	6009											
LPIN1	23175	broad.mit.edu	37	chr2	11935590	11935590	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagcaccggagagcaaccGccgcagctcagcttggccac	10	4	11	16	3	1	1	1	0	0	1	1	2	1	1	4	2	5	5	4	2	2	2			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr2:11935590G>T	ENST00000256720.2	+	13	1848	c.1755G>T	c.(1753-1755)ccG>ccT	p.P585P	LPIN1_ENST00000425416.2_Silent_p.P591P|LPIN1_ENST00000449576.2_Silent_p.P670P|LPIN1_ENST00000396099.1_Silent_p.P627P|LPIN1_ENST00000404113.2_Silent_p.P86P|LPIN1_ENST00000396097.1_Silent_p.P315P	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	585					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAGAGCAACCGCCGCAGCTCA	0.552																																					p.P670P													.	LPIN1	99		0			c.G2010T												63	62	62					2																	11935590		2203	4300	6503	SO:0001819	synonymous_variant	23175	exon15			GCAACCGCCGCAG	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1755G>T	2.37:g.11935590G>T			294	0	0		250	0.02	6	NM_001261428	83	0	0	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																					0.552	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239296.3		NM_145693		T	11935590	G	T	11935590	2	4	86	1	0	0	0	0	0	0	0	1	8934	1074	38	1		1	LPIN1	2	11935590	Silent	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	2274175	11935590	231263783	3	6010											
CAD	790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27455982	27455982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgacatgtgtgatcgaCtctactttgatgagatctct	10	15	8	8	1	2	4	0	4	2	1	4	6	2	4	0	0	1	0	0	0	2	3			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr2:27455982C>G	ENST00000403525.1	+	18	2920	c.2776C>G	c.(2776-2778)Ctc>Gtc	p.L926V	CAD_ENST00000264705.4_Missense_Mutation_p.L989V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTGATCGACTCTACTTTGA	0.493																																					p.L989V													.	.			0			c.C2965G												220	176	191					2																	27455982		2203	4300	6503	SO:0001583	missense	790	exon19			GATCGACTCTACT	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2776C>G	2.37:g.27455982C>G	ENSP00000384510:p.Leu926Val		97	0	0		98	0.28	27	NM_004341	165	0.37	61	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	28.5	4.929403	0.92389	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97620	-4.46;-4.46	5.44	5.44	0.79542	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98565	1.0643	10	0.87932	D	0	0.1306	18.0044	0.89205	0.0:1.0:0.0:0.0	.	926;989	F8VPD4;P27708	.;PYR1_HUMAN	V	989;926	ENSP00000264705:L989V;ENSP00000384510:L926V	ENSP00000264705:L989V	L	+	1	0	CAD	27309486	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.011000	0.76359	2.837000	0.97791	0.655000	0.94253	CTC			0.493	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000324970.1				G	27455982	C	G	27455982	3	3	86	1	0	0	0	0	1	0	0	0	2567	565	20	5	3039	5	CAD	2	27455982	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10	15520392	27455982	215743391	4	6011											
MST1R	4486	mdanderson.org	37	chr3	49940406	49940406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgatagacactgagcgtgGgctgaagctggcagccacgg	9	6	15	11	2	0	4	0	3	0	1	0	4	0	4	2	3	3	3	2	3	2	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr3:49940406G>T	ENST00000296474.3	-	1	664	c.637C>A	c.(637-639)Cca>Aca	p.P213T	MST1R_ENST00000344206.4_Missense_Mutation_p.P213T|CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	213	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		ACTGAGCGTGGGCTGAAGCTG	0.602																																					p.P213T													.	.			0			c.C637A												25	27	26					3																	49940406		2203	4300	6503	SO:0001583	missense	4486	exon1			AGCGTGGGCTGAA	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.637C>A	3.37:g.49940406G>T	ENSP00000296474:p.Pro213Thr		49	0	0		32	0.09	3	NM_001244937	21	0	0	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795851	0.50208	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.04406	3.63;3.63	4.92	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.169088	0.56097	D	0.000035	T	0.19446	0.0467	M	0.74881	2.28	0.43426	D	0.995585	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.982;0.999;0.982;0.988;0.999	T	0.00579	-1.1661	10	0.40728	T	0.16	-16.9103	13.2299	0.59936	0.0779:0.0:0.9221:0.0	.	213;213;213;213;213	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	T	213	ENSP00000296474:P213T;ENSP00000341325:P213T	ENSP00000296474:P213T	P	-	1	0	MST1R	49915410	1.000000	0.71417	0.941000	0.38009	0.133000	0.20885	4.889000	0.63171	1.063000	0.40649	-0.258000	0.10820	CCA			0.602	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000345403.1				T	49940406	G	T	49940406	3	4	86	1	0	0	0	0	1	0	0	0	9907	1232	43	3	3645	3	MST1R	3	49940406	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		49940406	148082024	5	6012											
HYAL2	8692	bcgsc.ca	37	chr3	50357082	50357082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggttggcatggtgggtgCgagccacacgaagggcctcc	7	7	16	11	2	0	0	0	0	0	0	1	2	1	0	3	5	2	2	3	5	1	1	rs367865916		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr3:50357082C>T	ENST00000447092.1	-	1	3131	c.839G>A	c.(838-840)cGc>cAc	p.R280H	HYAL2_ENST00000395139.3_Missense_Mutation_p.R280H|HYAL2_ENST00000442581.1_Missense_Mutation_p.R280H|HYAL2_ENST00000357750.4_Missense_Mutation_p.R280H|TUSC2_ENST00000462137.1_5'Flank			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	280					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATGGTGGGTGCGAGCCACACG	0.612																																					p.R280H													.	HYAL2	31		0			c.G839A							C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56	59	58		839,839	0.4	0	3		58	0,8598		0,0,4299	no	missense,missense	HYAL2	NM_003773.4,NM_033158.4	29,29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	280/474,280/474	50357082	1,13003	2203	4299	6502	SO:0001583	missense	8692	exon3			TGGGTGCGAGCCA	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.839G>A	3.37:g.50357082C>T	ENSP00000401853:p.Arg280His		76	0	0		50	0.08	4	NM_033158	267	0	1	B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	C	4.336	0.061794	0.08339	2.27E-4	0.0	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.75	0.447	0.16608	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.645425	0.17895	N	0.158389	T	0.15825	0.0381	L	0.31752	0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.19811	-1.0294	10	0.33940	T	0.23	-8.7703	8.3442	0.32263	0.0:0.3492:0.0:0.6508	.	280;280	B3KRZ2;Q12891	.;HYAL2_HUMAN	H	280	ENSP00000401853:R280H;ENSP00000350387:R280H;ENSP00000378571:R280H;ENSP00000406657:R280H	ENSP00000350387:R280H	R	-	2	0	HYAL2	50332086	0.246000	0.23909	0.028000	0.17463	0.000000	0.00434	0.754000	0.26390	0.396000	0.25283	-0.455000	0.05494	CGC			0.612	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346391.1		NM_003773		T	50357082	C	T	50357082	3	4	86	1	0	0	0	0	1	0	0	0	7479	768	27	1	594	1	HYAL2	3	50357082	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10	416676	50357082	147665348	6	6013											
MRPL3	11222	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr3	131220418	131220419	+	Frame_Shift_Del	DEL	AC	AC	-																															catggttcatctttcagaggAcacagtttacttgctaattg																								rs200877052		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	AC	AC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr3:131220418_131220419delAC	ENST00000264995.3	-	2	380_381	c.233_234delGT	c.(232-234)tgtfs	p.C78fs	MRPL3_ENST00000506946.1_5'Flank|MRPL3_ENST00000425847.2_Frame_Shift_Del_p.C105fs	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	78					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTTCAGAGGACACAGTTTACT	0.411																																					p.78_79del													.	MRPL3	32		0			c.234_235del																																									SO:0001589	frameshift_variant	11222	exon2			CAGAGGACACAGT	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.233_234delGT	3.37:g.131220420_131220421delAC	ENSP00000264995:p.Cys78fs		212	0	0		184	0.26	47	NM_007208	192	0	0	Q6IBT2	Frame_Shift_Del	DEL	ENST00000264995.3	37	CCDS3071.1																																																																																					0.411	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356471.3		NM_007208		-	131220419	AC	-	131220418	7	5	86	1	0	1	0	1	0	0	0	0	9809	273	10	0	848	0	MRPL3	3	131220418	Frame_Shift_Del	DEL	AC	TCGA-S6-A8JW-01A-11D-A435-10	80863336	131220418	66802012	7	6014											
HERC6	55008	hgsc.bcm.edu	37	chr4	89304513	89304513	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggattggagaattcaagGaaataagtttcacacctaag	15	10	11	5	0	2	1	2	0	0	1	2	4	2	3	1	4	0	1	1	4	5	5			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr4:89304513G>T	ENST00000264346.7	+	2	399	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	HERC6_ENST00000273960.3_Nonsense_Mutation_p.E114*|HERC6_ENST00000380265.5_Nonsense_Mutation_p.E114*	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	114					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAATTCAAGGAAATAAGTTT	0.488																																					p.E114X													HERC6_ENST00000264346,NS,carcinoma,0,2	HERC6_ENST00000264346	0	2	0			c.G340T												69	74	72					4																	89304513		1903	4112	6015	SO:0001587	stop_gained	55008	exon2			TTCAAGGAAATAA	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.340G>T	4.37:g.89304513G>T	ENSP00000264346:p.Glu114*		109	0	0		80	0.05	4	NM_017912	31	0	0	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Nonsense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.958640|5.958640	0.97145|0.97145	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346|ENST00000502870	.|.	.|.	.|.	4.47|4.47	3.53|3.53	0.40419|0.40419	.|.	0.474372|.	0.19898|.	N|.	0.103579|.	.|T	.|0.41743	.|0.1172	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48980	.|-0.8986	.|3	0.16896|.	T|.	0.51|.	.|.	6.4452|6.4452	0.21871|0.21871	0.1065:0.0:0.7079:0.1856|0.1065:0.0:0.7079:0.1856	.|.	.|.	.|.	.|.	X|S	114|78	.|.	ENSP00000264346:E114X|.	E|R	+|+	1|3	0|2	HERC6|HERC6	89523536|89523536	0.026000|0.026000	0.19158|0.19158	0.972000|0.972000	0.41901|0.41901	0.950000|0.950000	0.60333|0.60333	0.563000|0.563000	0.23547|0.23547	2.336000|2.336000	0.79503|0.79503	0.485000|0.485000	0.47835|0.47835	GAA|AGG			0.488	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000363259.2				T	89304513	G	T	89304513	4	4	86	1	0	0	0	0	0	1	0	0	7077	1175	41	3	143	3	HERC6	4	89304513	Nonsense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		89304513	101849763	8	6015											
ENPEP	2028	mdanderson.org	37	chr4	111397903	111397903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgaagcccctgttggaGgaggacacctacacgggcac	10	5	13	13	2	0	1	0	1	0	0	0	4	0	4	3	4	2	2	3	4	2	2			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr4:111397903G>T	ENST00000265162.5	+	1	675	c.333G>T	c.(331-333)gaG>gaT	p.E111D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	111					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)		CCCTGTTGGAGGAGGACACCT	0.627																																					p.E111D													.	.			0			c.G333T												97	101	99					4																	111397903		2203	4300	6503	SO:0001583	missense	2028	exon1			GTTGGAGGAGGAC	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.333G>T	4.37:g.111397903G>T	ENSP00000265162:p.Glu111Asp		75	0	0		49	0.06	3	NM_001977	12	0	0	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	7.125	0.578778	0.13686	.	.	ENSG00000138792	ENST00000265162	T	0.04119	3.7	5.83	1.63	0.23807	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.337803	0.29924	N	0.010844	T	0.03783	0.0107	L	0.39020	1.185	0.25602	N	0.986587	B	0.13594	0.008	B	0.19666	0.026	T	0.42292	-0.9460	10	0.23302	T	0.38	.	5.2139	0.15332	0.3814:0.1461:0.4725:0.0	.	111	Q07075	AMPE_HUMAN	D	111	ENSP00000265162:E111D	ENSP00000265162:E111D	E	+	3	2	ENPEP	111617352	0.010000	0.17322	0.785000	0.31869	0.002000	0.02628	0.086000	0.14935	0.382000	0.24878	-0.305000	0.09177	GAG			0.627	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255747.2				T	111397903	G	T	111397903	3	4	86	1	0	0	0	0	1	0	0	0	5135	991	35	3	335	3	ENPEP	4	111397903	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	22093390	111397903	79756373	9	6016											
CDH18	1016	broad.mit.edu	37	chr5	19838939	19838939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgattccatacccatccccTtttgggacgatgatggactt	8	13	8	12	1	0	2	0	2	0	0	2	5	2	4	4	2	1	0	4	2	1	5			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr5:19838939T>C	ENST00000507958.1	-	5	1147	c.157A>G	c.(157-159)Agg>Ggg	p.R53G	CDH18_ENST00000274170.4_Missense_Mutation_p.R53G|CDH18_ENST00000511273.1_Missense_Mutation_p.R53G|CDH18_ENST00000506372.1_Missense_Mutation_p.R53G|CDH18_ENST00000382275.1_Missense_Mutation_p.R53G|CDH18_ENST00000502796.1_Missense_Mutation_p.R53G			Q13634	CAD18_HUMAN	cadherin 18, type 2	53					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)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCCATCCCCTTTTGGGACGA	0.413																																					p.R53G													.	CDH18	561		0			c.A157G												179	151	161					5																	19838939		2203	4300	6503	SO:0001583	missense	1016	exon3			ATCCCCTTTTGGG	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.157A>G	5.37:g.19838939T>C	ENSP00000425093:p.Arg53Gly		96	0	0		73	0.04	3	NM_001167667	2	0	0	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485661	0.84854	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.00585	6.39;6.39;6.39;6.39;6.39;6.39	5.93	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	M	0.87682	2.9	0.46222	D	0.998936	D;P	0.89917	1.0;0.881	D;P	0.71184	0.972;0.452	T	0.27806	-1.0063	9	.	.	.	.	10.4264	0.44380	0.0:0.0:0.3314:0.6686	.	53;53	B4DHG6;Q13634	.;CAD18_HUMAN	G	53	ENSP00000371710:R53G;ENSP00000425093:R53G;ENSP00000274170:R53G;ENSP00000424931:R53G;ENSP00000422138:R53G;ENSP00000425854:R53G	.	R	-	1	2	CDH18	19874696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.894000	0.75655	2.263000	0.75096	0.533000	0.62120	AGG			0.413	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366747.1		NM_004934		C	19838939	T	C	19838939	3	2	86	1	0	0	0	0	1	0	0	0	3105	1608	56	4	2259	4	CDH18	5	19838939	Missense_Mutation	SNP	T	TCGA-S6-A8JW-01A-11D-A435-10		19838939	161076321	10	6017											
PHF3	23469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr6	64423074	64423074	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttgttcatctcccaggtCagccacagcgtatgatgggt	7	12	11	11	1	3	1	2	1	1	0	4	1	3	1	2	2	2	3	2	2	1	3			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr6:64423074C>T	ENST00000262043.3	+	16	5930	c.5590C>T	c.(5590-5592)Cag>Tag	p.Q1864*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.Q1864*			Q92576	PHF3_HUMAN	PHD finger protein 3	1864	Pro-rich.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCTCCCAGGTCAGCCACAGCG	0.512																																					p.Q1864X	GBM(135;136 1820 29512 34071 46235)												.	.			0			c.C5590T												106	112	110					6																	64423074		2203	4300	6503	SO:0001587	stop_gained	23469	exon15			CCAGGTCAGCCAC	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.5590C>T	6.37:g.64423074C>T	ENSP00000262043:p.Gln1864*		83	0	0		71	0.2	14	NM_015153	117	0.27	32	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	44	10.752368	0.99461	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	.	.	.	5.97	5.97	0.96955	.	0.000000	0.37304	N	0.002147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.1299	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	1864	.	.	Q	+	1	0	PHF3	64481033	1.000000	0.71417	0.972000	0.41901	0.909000	0.53808	6.076000	0.71267	2.836000	0.97738	0.655000	0.94253	CAG			0.512	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041086.2				T	64423074	C	T	64423074	4	4	86	1	0	0	0	0	0	1	0	0	11853	827	29	3	5648	3	PHF3	6	64423074	Nonsense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10		64423074	106691993	11	6018											
PRKAR2B	5577	mdanderson.org	37	chr7	106685519	106685519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcggccatgagggcaGgacctggggggacctgggcg	5	5	20	11	3	0	1	0	1	0	0	1	3	0	3	3	7	0	2	3	7	0	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr7:106685519G>T	ENST00000265717.4	+	1	426	c.167G>T	c.(166-168)aGg>aTg	p.R56M		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	56	Dimerization and phosphorylation.				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)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|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)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|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)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CATGAGGGCAGGACCTGGGGG	0.721																																					p.R56M													.	.			0			c.G167T												4	5	4					7																	106685519		1992	3969	5961	SO:0001583	missense	5577	exon1			AGGGCAGGACCTG		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.167G>T	7.37:g.106685519G>T	ENSP00000265717:p.Arg56Met		9	0	0		13	0.15	2	NM_002736	52	0	0	A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987528	0.35036	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.81659	-1.52	4.02	2.08	0.27032	.	0.429172	0.19490	N	0.113011	T	0.57227	0.2039	N	0.08118	0	0.29641	N	0.844698	B	0.27068	0.167	B	0.23716	0.048	T	0.53542	-0.8424	10	0.48119	T	0.1	-13.7235	4.1959	0.10443	0.181:0.0:0.5067:0.3123	.	56	P31323	KAP3_HUMAN	M	56	ENSP00000265717:R56M	ENSP00000265717:R56M	R	+	2	0	PRKAR2B	106472755	0.184000	0.23200	1.000000	0.80357	0.943000	0.58893	0.161000	0.16481	0.919000	0.36945	0.456000	0.33151	AGG			0.721	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268386.1				T	106685519	G	T	106685519	3	4	86	1	0	0	0	0	1	0	0	0	12526	1000	35	3	169	3	PRKAR2B	7	106685519	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		106685519	52453144	12	6019											
MOS	4342	bcgsc.ca;mdanderson.org	37	chr8	57025695	57025695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtacagtatgtgctgccGctcccccgaatacggcgcct	6	8	11	16	6	0	0	0	0	0	0	1	1	1	0	4	1	4	4	4	1	4	3			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr8:57025695G>A	ENST00000311923.1	-	1	846	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)			ATGTGCTGCCGCTCCCCCGAA	0.627																																					p.R283W	Esophageal Squamous(124;373 2870 4778)												.	MOS	63		0			c.C847T												45	44	44					8																	57025695		2203	4300	6503	SO:0001583	missense	4342	exon1			GCTGCCGCTCCCC		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.847C>T	8.37:g.57025695G>A	ENSP00000310722:p.Arg283Trp		106	0	0		87	0.06	5	NM_005372	0		0	Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928254	0.52759	.	.	ENSG00000172680	ENST00000311923	D	0.93659	-3.26	5.8	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.141224	0.46758	D	0.000272	D	0.95465	0.8527	L	0.60455	1.87	0.47778	D	0.999517	D	0.76494	0.999	D	0.64595	0.927	D	0.95850	0.8874	10	0.87932	D	0	.	16.0536	0.80779	0.0:0.0:0.8648:0.1352	.	283	P00540	MOS_HUMAN	W	283	ENSP00000310722:R283W	ENSP00000310722:R283W	R	-	1	2	MOS	57188249	1.000000	0.71417	0.386000	0.26170	0.162000	0.22319	2.757000	0.47557	1.427000	0.47276	0.561000	0.74099	CGG			0.627	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378174.1		NM_005372		A	57025695	G	A	57025695	3	1	86	1	0	0	0	0	1	0	0	0	9728	1086	38	1	196	1	MOS	8	57025695	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		57025695	89338327	13	6020											
KIAA1429	25962	ucsc.edu	37	chr8	95538916	95538916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcctacctcttaaaaaaGcttccattccttctgtcata	10	15	3	13	0	4	0	1	0	3	0	6	0	6	0	4	0	3	1	4	0	5	6			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr8:95538916G>A	ENST00000297591.5	-	8	1631	c.1556C>T	c.(1555-1557)gCt>gTt	p.A519V	KIAA1429_ENST00000437199.1_Missense_Mutation_p.A519V|KIAA1429_ENST00000421249.2_Missense_Mutation_p.A519V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	519					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)			TCTTAAAAAAGCTTCCATTCC	0.363																																					p.A519V													.	KIAA1429	176		0			c.C1556T												62	63	63					8																	95538916		2203	4300	6503	SO:0001583	missense	25962	exon8			AAAAAAGCTTCCA	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.1556C>T	8.37:g.95538916G>A	ENSP00000297591:p.Ala519Val		86	0	0		86	0.01	1	NM_015496	94	0.12	11	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101507	0.20632	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.46451	0.87;0.87;0.87	5.67	3.7	0.42460	.	0.329491	0.31257	N	0.007963	T	0.19287	0.0463	N	0.12182	0.205	0.37188	D	0.90379	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.10894	-1.0610	10	0.27785	T	0.31	-9.5782	2.3622	0.04310	0.201:0.1369:0.5031:0.159	.	519;519	Q69YN4-4;Q69YN4	.;VIR_HUMAN	V	519	ENSP00000297591:A519V;ENSP00000395600:A519V;ENSP00000398390:A519V	ENSP00000297591:A519V	A	-	2	0	KIAA1429	95608092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.452000	0.52971	1.400000	0.46741	0.563000	0.77884	GCT			0.363	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378720.2		NM_015496		A	95538916	G	A	95538916	3	1	86	1	0	0	0	0	1	0	0	0	8246	971	34	2	4004	2	KIAA1429	8	95538916	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	38513221	95538916	50825106	14	6021											
PHF2	5253	mdanderson.org	37	chr9	96438062	96438062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgctgcagctaagttGtcccagcaggtgaggagggg	7	7	18	9	1	0	1	0	1	0	0	1	2	1	2	1	5	4	6	1	5	1	2			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr9:96438062G>T	ENST00000359246.4	+	20	3190	c.2823G>T	c.(2821-2823)ttG>ttT	p.L941F	PHF2_ENST00000375376.4_Missense_Mutation_p.L172F	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	941					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAGCTAAGTTGTCCCAGCAGG	0.657																																					p.L941F													.	.			0			c.G2823T												62	52	55					9																	96438062		2203	4300	6503	SO:0001583	missense	5253	exon20			TAAGTTGTCCCAG	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2823G>T	9.37:g.96438062G>T	ENSP00000352185:p.Leu941Phe		28	0	0		20	0.1	2	NM_005392	75	0	0	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119038	0.37436	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.61274	0.12;0.12	5.13	-1.89	0.07689	.	0.293483	0.29715	N	0.011395	T	0.55955	0.1953	L	0.38175	1.15	0.49687	D	0.999819	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.56739	-0.7929	10	0.72032	D	0.01	-14.9127	1.976	0.03416	0.2002:0.2363:0.3828:0.1808	.	360;941	Q8N359;O75151	.;PHF2_HUMAN	F	941;172	ENSP00000352185:L941F;ENSP00000364525:L172F	ENSP00000352185:L941F	L	+	3	2	PHF2	95477883	0.048000	0.20356	0.991000	0.47740	0.590000	0.36582	-0.887000	0.04152	-0.351000	0.08249	-0.268000	0.10319	TTG			0.657	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053162.1		NM_005392		T	96438062	G	T	96438062	3	4	86	1	0	0	0	0	1	0	0	0	11847	1368	48	3	2901	3	PHF2	9	96438062	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		96438062	44775369	15	6022											
KIAA1529	100499483	mdanderson.org	37	chr9	100092984	100092984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggaggaggaggagAagctggaggaagagaaggag	17	1	22	1	0	0	3	0	0	0	3	0	12	0	10	0	8	1	1	0	8	4	0	rs201085376		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr9:100092984A>G	ENST00000357054.1	+	32	3693	c.2758A>G	c.(2758-2760)Aag>Gag	p.K920E	CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.K778E|CCDC180_ENST00000375202.2_Missense_Mutation_p.K781E|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.K781E			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	920	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ggaggaggagaagctggagga	0.498																																					p.K781E													KIAA1529,caecum,carcinoma,0,4	KIAA1529	0	4	0			c.A2341G												64	76	72					9																	100092984		2203	4300	6503	SO:0001583	missense	0	exon18			GAGGAGAAGCTGG	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.2758A>G	9.37:g.100092984A>G	ENSP00000349562:p.Lys920Glu		16	0	0		21	0.14	3	NM_020893	2	0	0	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	A	1.674	-0.508279	0.04231	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.08008	3.46;3.14;3.46;3.14	1.9	0.972	0.19704	.	1.506390	0.04483	N	0.378176	T	0.04227	0.0117	N	0.12182	0.205	0.09310	N	1	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	0.37220	-0.9715	10	0.06757	T	0.87	2.8577	4.1072	0.10041	0.2217:0.0:0.7783:0.0	.	804;778;920;781;920	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	E	920;781;778;804;781	ENSP00000349562:K920E;ENSP00000364348:K781E;ENSP00000414000:K778E;ENSP00000434727:K781E	ENSP00000349562:K920E	K	+	1	0	C9orf174	99132805	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.421000	0.07053	0.367000	0.24454	-0.394000	0.06481	AAG			0.498	CCDC180-201	KNOWN	basic	protein_coding	protein_coding				NM_020893		G	100092984	A	G	100092984	3	3	86	1	0	0	0	0	1	0	0	0	8255	247	9	4	2840	4	KIAA1529	9	100092984	Missense_Mutation	SNP	A	TCGA-S6-A8JW-01A-11D-A435-10	3654922	100092984	41120447	16	6023											
DNAJC1	64215	mdanderson.org	37	chr10	22292356	22292356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccggctgggagcaaggaGccgtcatcgcgctgggctcg	5	5	18	13	6	1	0	1	0	0	0	3	2	1	2	2	4	2	4	2	4	1	0			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:22292356G>T	ENST00000376980.3	-	1	298	c.8C>A	c.(7-9)gCt>gAt	p.A3D	DNAJC1_ENST00000376946.1_Missense_Mutation_p.A3D	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	3					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)				GGAGCAAGGAGCCGTCATCGC	0.756																																					p.A3D													.	.			0			c.C8A												2	2	2					10																	22292356		1306	2666	3972	SO:0001583	missense	64215	exon1			CAAGGAGCCGTCA	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.8C>A	10.37:g.22292356G>T	ENSP00000366179:p.Ala3Asp		17	0	0		11	0.18	2	NM_022365	2	0	0	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031913	0.54790	.	.	ENSG00000136770	ENST00000376980;ENST00000376946	T;T	0.67698	-0.28;1.3	4.48	3.56	0.40772	.	0.778290	0.11123	N	0.597184	T	0.47097	0.1427	N	0.08118	0	0.09310	N	1	P	0.38195	0.622	B	0.37346	0.247	T	0.39078	-0.9631	10	0.87932	D	0	.	9.3843	0.38333	0.1079:0.0:0.8921:0.0	.	3	Q96KC8	DNJC1_HUMAN	D	3	ENSP00000366179:A3D;ENSP00000366145:A3D	ENSP00000366145:A3D	A	-	2	0	DNAJC1	22332362	0.116000	0.22171	0.366000	0.25914	0.100000	0.18952	0.956000	0.29202	1.062000	0.40625	0.585000	0.79938	GCT			0.756	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047149.1		NM_022365		T	22292356	G	T	22292356	3	4	86	1	0	0	0	0	1	0	0	0	4633	971	34	2	1704	2	DNAJC1	10	22292356	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		22292356	113242391	17	6024											
CDH23	64072	mdanderson.org	37	chr10	73558990	73558990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtctacctggaaatcGtggacatcaatgacaacaac	13	9	7	12	1	2	1	1	1	1	0	4	3	3	3	2	2	3	0	2	2	5	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:73558990G>A	ENST00000224721.6	+	50	7197	c.7192G>A	c.(7192-7194)Gtg>Atg	p.V2398M	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.V153M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2393	Cadherin 22. {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						CCTGGAAATCGTGGACATCAA	0.612																																					p.V2393M													CDH23,rectum,carcinoma,-2,1	CDH23	-2	1	0			c.G7177A												72	80	78					10																	73558990		2022	4161	6183	SO:0001583	missense	64072	exon49			GAAATCGTGGACA	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.7192G>A	10.37:g.73558990G>A	ENSP00000224721:p.Val2398Met		93	0	0		45	0.07	3	NM_022124	0		0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	18.54	3.645257	0.67358	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01838	4.61	5.55	5.55	0.83447	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.071871	0.56097	D	0.000031	T	0.09686	0.0238	M	0.70595	2.14	0.58432	D	0.999992	P;P	0.50156	0.932;0.782	P;B	0.54026	0.74;0.298	T	0.00934	-1.1509	10	0.49607	T	0.09	.	19.516	0.95165	0.0:0.0:1.0:0.0	.	2393;2393	E9PEX1;Q9H251	.;CAD23_HUMAN	M	2398;2393;2396;153	ENSP00000381768:V153M	ENSP00000224721:V2398M	V	+	1	0	CDH23	73228996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.670000	0.54569	2.623000	0.88846	0.655000	0.94253	GTG			0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000051227.4		NM_052836		A	73558990	G	A	73558990	3	1	86	1	0	0	0	0	1	0	0	0	3110	1145	40	1	7720	1	CDH23	10	73558990	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	51266634	73558990	61975757	18	6025											
USP54	159195	mdanderson.org	37	chr10	75276934	75276934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggatcaggacagtgaaGcacaaatgaagaagcaacag	19	3	11	8	0	1	3	1	2	0	1	1	5	1	5	0	2	3	2	0	2	5	0			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:75276934G>T	ENST00000339859.4	-	19	3350	c.3250C>A	c.(3250-3252)Ctt>Att	p.L1084I	USP54_ENST00000422491.2_Missense_Mutation_p.L266I|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L172I|USP54_ENST00000408019.1_Missense_Mutation_p.L1084I|USP54_ENST00000428547.1_Missense_Mutation_p.L934I|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1084					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGACAGTGAAGCACAAATGAA	0.483																																					p.L1084I	Colon(195;880 2046 8854 25025 38456)												.	.			0			c.C3250A												100	102	101					10																	75276934		2203	4300	6503	SO:0001583	missense	159195	exon18			AGTGAAGCACAAA	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3250C>A	10.37:g.75276934G>T	ENSP00000345216:p.Leu1084Ile		65	0	0		46	0.07	3	NM_152586	72	0	0	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661161	0.29515	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.25912	1.82;1.82;1.82;1.77;1.78	5.83	4.93	0.64822	.	.	.	.	.	T	0.24736	0.0600	L	0.32530	0.975	0.80722	D	1	P;P	0.41848	0.763;0.501	P;B	0.44990	0.466;0.086	T	0.02138	-1.1207	9	0.44086	T	0.13	-2.6463	11.0159	0.47689	0.1416:0.0:0.8584:0.0	.	266;1084	E7EW90;Q70EL1	.;UBP54_HUMAN	I	1084;1084;934;172;266	ENSP00000345216:L1084I;ENSP00000386080:L1084I;ENSP00000408714:L934I;ENSP00000378290:L172I;ENSP00000407368:L266I	ENSP00000345216:L1084I	L	-	1	0	USP54	74946940	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	4.074000	0.57577	1.468000	0.48064	0.655000	0.94253	CTT			0.483	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316563.2		NM_152586		T	75276934	G	T	75276934	3	4	86	1	0	0	0	0	1	0	0	0	17109	971	34	2	1824	2	USP54	10	75276934	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	1717944	75276934	60257813	19	6026											
SLIT1	6585	mdanderson.org	37	chr10	98781159	98781159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcacagtatagggggttgGcaccaatggccctgagcaga	11	7	14	9	0	1	2	1	1	0	1	1	2	1	2	2	4	1	4	2	4	3	3			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:98781159G>A	ENST00000266058.4	-	26	2839	c.2594C>T	c.(2593-2595)gCc>gTc	p.A865V	SLIT1_ENST00000371070.4_Missense_Mutation_p.A865V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	865					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)		TAGGGGGTTGGCACCAATGGC	0.612																																					p.A865V													.	.			0			c.C2594T												43	39	41					10																	98781159		2203	4300	6503	SO:0001583	missense	6585	exon26			GGGTTGGCACCAA	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.2594C>T	10.37:g.98781159G>A	ENSP00000266058:p.Ala865Val		102	0.0098039216	1		82	0.05	4	NM_003061	0		0	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204583	0.95033	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.04551	3.6;3.6	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	L	0.43646	1.37	0.80722	D	1	D	0.54964	0.969	P	0.48334	0.574	T	0.02821	-1.1106	10	0.72032	D	0.01	.	18.1698	0.89742	0.0:0.0:1.0:0.0	.	865	O75093	SLIT1_HUMAN	V	865	ENSP00000266058:A865V;ENSP00000360109:A865V	ENSP00000266058:A865V	A	-	2	0	SLIT1	98771149	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.657000	0.98554	2.521000	0.84997	0.462000	0.41574	GCC			0.612	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049636.1		NM_003061		A	98781159	G	A	98781159	3	1	86	1	0	0	0	0	1	0	0	0	14762	1203	42	2	2058	2	SLIT1	10	98781159	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	23504225	98781159	36753588	20	6027											
CPXM2	119587	mdanderson.org	37	chr10	125528156	125528156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtactcctgacacacGaactgcaccagcagcagcag	13	4	9	15	1	0	1	0	1	0	0	1	2	1	1	3	0	6	5	3	0	3	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr10:125528156G>T	ENST00000241305.3	-	9	1339	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	395					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTGACACACGAACTGCACCA	0.627																																					p.F395L													.	.			0			c.C1185A												98	95	96					10																	125528156		2203	4300	6503	SO:0001583	missense	119587	exon9			ACACACGAACTGC	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1185C>A	10.37:g.125528156G>T	ENSP00000241305:p.Phe395Leu		36	0	0		20	0.1	2	NM_198148	12	0	0	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974384	0.74246	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.10860	2.83	4.96	-4.52	0.03472	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.45470	1.425	0.80722	D	1	D	0.65815	0.995	D	0.71184	0.972	T	0.00118	-1.2034	10	0.72032	D	0.01	-20.7082	14.4283	0.67230	0.6118:0.0:0.3882:0.0	.	395	Q8N436	CPXM2_HUMAN	L	395;228;395	ENSP00000241305:F395L	ENSP00000241305:F395L	F	-	3	2	CPXM2	125518146	0.995000	0.38212	0.894000	0.35097	0.753000	0.42808	0.269000	0.18589	-0.842000	0.04195	-0.794000	0.03295	TTC			0.627	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050853.1		NM_198148		T	125528156	G	T	125528156	3	4	86	1	0	0	0	0	1	0	0	0	3840	1049	37	1	1109	1	CPXM2	10	125528156	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	26746997	125528156	10006591	21	6028											
MUC6	4588	mdanderson.org	37	chr11	1017211	1017211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggatggaggcagaagtggCcatctgtgtgtgggtaggga	8	9	20	4	0	1	1	0	0	1	1	1	4	1	4	1	6	0	2	1	6	2	1	rs36128067		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:1017211C>T	ENST00000421673.2	-	31	5640	c.5590G>A	c.(5590-5592)Gcc>Acc	p.A1864T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1864	Approximate repeats.|Thr-rich.				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)		GCAGAAGTGGCCATCTGTGTG	0.567																																					p.A1864T													.	.			0			c.G5590A												380	366	371					11																	1017211		2199	4284	6483	SO:0001583	missense	4588	exon31			AAGTGGCCATCTG	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.5590G>A	11.37:g.1017211C>T	ENSP00000406861:p.Ala1864Thr		148	0.0135135135	2		108	0.11	12	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	8.536	0.872112	0.17322	.	.	ENSG00000184956	ENST00000421673	T	0.18502	2.21	2.88	-5.76	0.02376	.	.	.	.	.	T	0.12603	0.0306	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	D	0.62955	0.909	T	0.03673	-1.1014	9	0.11485	T	0.65	.	2.5133	0.04662	0.1048:0.3634:0.1687:0.3631	rs36128067	1864	Q6W4X9	MUC6_HUMAN	T	1864	ENSP00000406861:A1864T	ENSP00000406861:A1864T	A	-	1	0	MUC6	1007211	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.643000	0.00862	-1.612000	0.01579	-0.921000	0.02739	GCC			0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		T	1017211	C	T	1017211	3	4	86	1	0	0	0	0	1	0	0	0	9996	739	26	2	1741	2	MUC6	11	1017211	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10		1017211	133989305	22	6029											
OR52L1	338751	mdanderson.org	37	chr11	6007599	6007599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcctatgatggtggcttGgcagaagataagttttccca	10	12	12	7	0	0	3	0	1	0	2	1	3	1	3	2	4	0	3	2	4	3	5			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:6007599G>T	ENST00000332249.4	-	1	616	c.562C>A	c.(562-564)Caa>Aaa	p.Q188K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	188						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)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTGGCTTGGCAGAAGATA	0.498																																					p.Q188K	Melanoma(121;653 1666 10547 22796 51255)												.	.			0			c.C562A												101	94	96					11																	6007599		1992	4154	6146	SO:0001583	missense	338751	exon1			TGGCTTGGCAGAA	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.562C>A	11.37:g.6007599G>T	ENSP00000330338:p.Gln188Lys		67	0	0		53	0.06	3	NM_001005173	0		0	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.393388	0.01185	.	.	ENSG00000183313	ENST00000332249	T	0.35973	1.28	3.73	0.384	0.16244	GPCR, rhodopsin-like superfamily (1);	1.392040	0.05023	N	0.473232	T	0.18467	0.0443	N	0.20401	0.57	0.09310	N	1	B	0.31125	0.309	B	0.28232	0.087	T	0.12837	-1.0532	10	0.07990	T	0.79	.	2.9728	0.05928	0.1044:0.3365:0.3926:0.1665	.	188	Q8NGH7	O52L1_HUMAN	K	188	ENSP00000330338:Q188K	ENSP00000330338:Q188K	Q	-	1	0	OR52L1	5964175	0.000000	0.05858	0.055000	0.19348	0.162000	0.22319	-3.601000	0.00418	0.127000	0.18452	0.313000	0.20887	CAA			0.498	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383754.1		NM_001005173		T	6007599	G	T	6007599	3	4	86	1	0	0	0	0	1	0	0	0	11142	1357	47	3	431	3	OR52L1	11	6007599	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	4990388	6007599	128998917	23	6030											
DGKZ	8525	broad.mit.edu	37	chr11	46391504	46391504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccagccaacctttgtacGgcaccactgggtacacagac	10	6	8	17	1	0	1	0	0	0	1	0	1	0	1	5	2	4	3	5	2	3	3	rs373801182		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:46391504G>T	ENST00000454345.1	+	7	1204	c.1079G>T	c.(1078-1080)cGg>cTg	p.R360L	DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.R171L|DGKZ_ENST00000532868.2_Missense_Mutation_p.R176L|DGKZ_ENST00000421244.2_Missense_Mutation_p.R172L|DGKZ_ENST00000527911.1_Missense_Mutation_p.R172L|DGKZ_ENST00000343674.6_Missense_Mutation_p.R188L|DGKZ_ENST00000395574.3_Missense_Mutation_p.R138L|DGKZ_ENST00000528615.1_5'UTR	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	360					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCTTTGTACGGCACCACTGG	0.642											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R360L													.	DGKZ	199		0			c.G1079T												82	73	76					11																	46391504		2202	4299	6501	SO:0001583	missense	8525	exon7			TTGTACGGCACCA	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1079G>T	11.37:g.46391504G>T	ENSP00000412178:p.Arg360Leu		364	0	0	938	238	0.02	5	NM_001105540	204	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176316	0.94846	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000454345;ENST00000524448	T;T;T;T;T;T;T;T	0.25579	2.35;2.55;2.61;3.54;2.36;2.43;1.79;2.86	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.64404	1.975	0.80722	D	1	B;D;P;P;D;D;P	0.89917	0.23;0.999;0.457;0.6;1.0;0.998;0.817	B;D;B;B;D;D;B	0.76071	0.167;0.971;0.272;0.315;0.987;0.954;0.247	T	0.44375	-0.9332	10	0.39692	T	0.17	.	17.5919	0.87999	0.0:0.0:1.0:0.0	.	137;172;360;171;172;138;188	B7Z6M3;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;DGKZ_HUMAN;.;.;.;.	L	188;138;137;172;171;172;360;56	ENSP00000343065:R188L;ENSP00000378941:R138L;ENSP00000436273:R137L;ENSP00000436291:R172L;ENSP00000395684:R171L;ENSP00000391021:R172L;ENSP00000412178:R360L;ENSP00000435763:R56L	ENSP00000343065:R188L	R	+	2	0	DGKZ	46348080	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.800000	0.99124	2.224000	0.72417	0.561000	0.74099	CGG			0.642	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000389772.1		NM_001105540		T	46391504	G	T	46391504	3	4	86	1	0	0	0	0	1	0	0	0	4479	1116	39	1	1548	1	DGKZ	11	46391504	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	40383905	46391504	88615012	24	6031											
VPS37C	55048	mdanderson.org	37	chr11	60901523	60901523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacccagctttgccttctGctcctggcaccgctccacga	5	10	7	19	2	1	0	0	0	1	0	3	1	3	0	6	1	4	4	6	1	1	3			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:60901523G>T	ENST00000301765.5	-	3	482	c.250C>A	c.(250-252)Cag>Aag	p.Q84K		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	84	VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						TTTGCCTTCTGCTCCTGGCAC	0.607																																					p.Q84K													.	.			0			c.C250A												62	63	63					11																	60901523		2203	4299	6502	SO:0001583	missense	55048	exon3			CCTTCTGCTCCTG	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.250C>A	11.37:g.60901523G>T	ENSP00000301765:p.Gln84Lys		56	0	0		39	0.08	3	NM_017966	120	0	0	Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049380	0.36181	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.73047	-0.71;-0.71	5.3	5.3	0.74995	Modifier of rudimentary, Modr (2);	0.058018	0.64402	D	0.000001	T	0.62270	0.2414	N	0.11106	0.095	0.39693	D	0.971074	D;D	0.57257	0.979;0.975	P;P	0.56474	0.696;0.799	T	0.59731	-0.7399	10	0.02654	T	1	-21.9894	17.1334	0.86732	0.0:0.0:1.0:0.0	.	84;84	B4DYD9;A5D8V6	.;VP37C_HUMAN	K	84	ENSP00000301765:Q84K;ENSP00000446013:Q84K	ENSP00000301765:Q84K	Q	-	1	0	VPS37C	60658099	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.987000	0.56944	2.496000	0.84212	0.491000	0.48974	CAG			0.607	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396467.1		NM_017966		T	60901523	G	T	60901523	3	4	86	1	0	0	0	0	1	0	0	0	17231	1328	46	2	829	2	VPS37C	11	60901523	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	14510019	60901523	74104993	25	6032											
EHBP1L1	254102	mdanderson.org	37	chr11	65350066	65350066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaacagaggtgggggtcatAgagaccccagggacagagac	14	3	16	8	0	1	3	1	0	0	3	1	7	1	4	2	4	1	0	2	4	2	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:65350066A>G	ENST00000309295.4	+	9	2188	c.1923A>G	c.(1921-1923)atA>atG	p.I641M		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	641	Glu-rich.					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						TGGGGGTCATAGAGACCCCAG	0.542																																					p.I641M													.	.			0			c.A1923G												53	57	56					11																	65350066		1930	4154	6084	SO:0001583	missense	254102	exon9			GGTCATAGAGACC	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.1923A>G	11.37:g.65350066A>G	ENSP00000312671:p.Ile641Met		49	0	0		32	0.09	3	NM_001099409	40	0	0	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	A	8.884	0.952249	0.18431	.	.	ENSG00000173442	ENST00000309295	T	0.67171	-0.25	3.8	-3.94	0.04130	.	.	.	.	.	T	0.43612	0.1255	N	0.14661	0.345	0.09310	N	1	B	0.23185	0.081	B	0.21546	0.035	T	0.30149	-0.9988	9	0.54805	T	0.06	.	6.6506	0.22959	0.3245:0.1532:0.5223:0.0	.	641	Q8N3D4	EH1L1_HUMAN	M	641	ENSP00000312671:I641M	ENSP00000312671:I641M	I	+	3	3	EHBP1L1	65106642	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.756000	0.04777	-0.765000	0.04645	0.383000	0.25322	ATA			0.542	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390145.1		XM_170658		G	65350066	A	G	65350066	3	3	86	1	0	0	0	0	1	0	0	0	4981	410	15	4	1957	4	EHBP1L1	11	65350066	Missense_Mutation	SNP	A	TCGA-S6-A8JW-01A-11D-A435-10	4448543	65350066	69656450	26	6033											
ALDH3B2	222	mdanderson.org	37	chr11	67434105	67434105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggtagttccagggtgCgatgatgaggaccaggccaa	10	7	16	8	1	0	2	0	2	0	0	1	4	1	3	3	4	1	2	3	4	2	2			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:67434105C>T	ENST00000349015.3	-	4	529	c.91G>A	c.(91-93)Gca>Aca	p.A31T	ALDH3B2_ENST00000531881.1_5'UTR|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.A31T	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	31					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TTCCAGGGTGCGATGATGAGG	0.632																																					p.A31T													ALDH3B2,NS,carcinoma,0,1	ALDH3B2	0	1	0			c.G91A												94	91	92					11																	67434105		2200	4294	6494	SO:0001583	missense	222	exon4			AGGGTGCGATGAT	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.91G>A	11.37:g.67434105C>T	ENSP00000255084:p.Ala31Thr		61	0	0		48	0.06	3	NM_001031615	0		0	Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332113	0.24167	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	4.07	-3.09	0.05331	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.554069	0.18644	N	0.135186	T	0.53351	0.1791	N	0.25286	0.73	0.09310	N	1	B	0.22480	0.07	B	0.27170	0.077	T	0.42085	-0.9472	10	0.66056	D	0.02	.	3.9841	0.09507	0.353:0.3519:0.0:0.2951	.	31	P48448	AL3B2_HUMAN	T	31	ENSP00000431595:A31T;ENSP00000255084:A31T;ENSP00000433718:A31T;ENSP00000433466:A31T	ENSP00000255084:A31T	A	-	1	0	ALDH3B2	67190681	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.588000	0.23924	-0.778000	0.04566	0.561000	0.74099	GCA			0.632	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394004.1		NM_000695		T	67434105	C	T	67434105	3	4	86	1	0	0	0	0	1	0	0	0	500	768	27	1	1094	1	ALDH3B2	11	67434105	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10	2084039	67434105	67572411	27	6034											
ATM	472	mdanderson.org	37	chr11	108121539	108121539	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaccccaacagcgacatggGgaacgtacaccatatgtgtt	12	8	9	12	2	0	0	0	0	0	0	0	2	0	1	3	2	5	2	3	2	5	4			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:108121539G>T	ENST00000452508.2	+	11	1536	c.1347G>T	c.(1345-1347)ggG>ggT	p.G449G	ATM_ENST00000278616.4_Silent_p.G449G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	449					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)	AGCGACATGGGGAACGTACAC	0.408			"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)																											p.G449G			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	ATM_ENST00000278616,colon,carcinoma,+1,2	ATM_ENST00000278616	1	2	0			c.G1347T												114	97	103					11																	108121539		2201	4298	6499	SO:0001819	synonymous_variant	472	exon10	Familial Cancer Database	AT, Louis-Bar syndrome	ACATGGGGAACGT	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.1347G>T	11.37:g.108121539G>T			53	0	0		24	0.13	3	NM_000051	11	0	0	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																					0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389938.1		NM_000051		T	108121539	G	T	108121539	2	4	86	1	0	0	0	0	0	0	0	1	1109	1219	43	3		3	ATM	11	108121539	Silent	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	40687434	108121539	26884977	28	6035											
TBCEL	219899	mdanderson.org	37	chr11	120925820	120925820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcttgtccttctatttGctgtcattctcttaagctac	6	19	6	10	0	4	0	1	0	3	0	6	0	5	0	1	0	3	2	1	0	3	7			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr11:120925820G>T	ENST00000529397.1	+	5	615	c.515G>T	c.(514-516)tGc>tTc	p.C172F	TBCEL_ENST00000422003.2_Missense_Mutation_p.C172F	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	172						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CCTTCTATTTGCTGTCATTCT	0.378																																					p.C172F													.	.			0			c.G515T												144	130	135					11																	120925820		2203	4299	6502	SO:0001583	missense	219899	exon5			CTATTTGCTGTCA	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.515G>T	11.37:g.120925820G>T	ENSP00000437184:p.Cys172Phe		99	0	0		51	0.08	4	NM_001130047	24	0	0	Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893489	0.52121	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000524726	T;T;T	0.41065	1.01;1.01;1.01	5.82	5.82	0.92795	.	0.135401	0.64402	D	0.000001	T	0.27098	0.0664	N	0.11427	0.14	0.80722	D	1	P	0.39352	0.669	B	0.34093	0.175	T	0.06643	-1.0815	10	0.33940	T	0.23	-28.3069	20.089	0.97809	0.0:0.0:1.0:0.0	.	172	Q5QJ74	TBCEL_HUMAN	F	172	ENSP00000437184:C172F;ENSP00000403925:C172F;ENSP00000432783:C172F	ENSP00000403925:C172F	C	+	2	0	TBCEL	120431030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.793000	0.69060	2.765000	0.95021	0.591000	0.81541	TGC			0.378	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000387688.1		NM_152715		T	120925820	G	T	120925820	3	4	86	1	0	0	0	0	1	0	0	0	15658	1319	46	2	529	2	TBCEL	11	120925820	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	12804281	120925820	14080696	29	6036											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	14	8	11	1	2	2	1	1	1	1	4	3	3	2	2	0	3	3	2	0	3	4	rs121913240		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R|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)																											p.Q61R	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,+1,429	KRAS_ENST00000256078	1	429	141	Substitution - Missense(141)	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)	c.A182G												109	97	101					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	exon3	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	TCCTCTTGACCTG	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		107	0	0		185	0.3	55	NM_004985	142	0.23	33	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	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		C	25380276	T	C	25380276	3	2	86	1	0	0	0	0	1	0	0	0	8453	1812	63	4	520	4	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-S6-A8JW-01A-11D-A435-10		25380276	108471619	30	6037											
KRT79	338785	broad.mit.edu	37	chr12	53217693	53217693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttggctgcatcagccTccccctgcagcctctggata	5	11	9	16	0	3	0	1	0	2	0	4	1	4	1	4	2	4	4	4	2	1	3			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr12:53217693T>C	ENST00000330553.5	-	6	1158	c.1124A>G	c.(1123-1125)gAg>gGg	p.E375G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	375	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCATCAGCCTCCCCCTGCAG	0.627																																					p.E375G													.	KRT79	78		0			c.A1124G												62	52	55					12																	53217693		2203	4300	6503	SO:0001583	missense	338785	exon6			TCAGCCTCCCCCT	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.1124A>G	12.37:g.53217693T>C	ENSP00000328358:p.Glu375Gly		62	0	0		69	0.04	3	NM_175834	0		0	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215767	0.58452	.	.	ENSG00000185640	ENST00000330553	T	0.79141	-1.24	3.79	3.79	0.43588	Filament (1);	0.000000	0.44097	D	0.000487	D	0.91529	0.7325	H	0.97491	4.015	0.50467	D	0.999873	D	0.89917	1.0	D	0.87578	0.998	D	0.93811	0.7110	10	0.87932	D	0	.	12.6929	0.56985	0.0:0.0:0.0:1.0	.	375	Q5XKE5	K2C79_HUMAN	G	375	ENSP00000328358:E375G	ENSP00000328358:E375G	E	-	2	0	KRT79	51503960	1.000000	0.71417	0.866000	0.34008	0.267000	0.26476	7.205000	0.77881	1.957000	0.56846	0.448000	0.29417	GAG			0.627	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406376.1		NM_175834		C	53217693	T	C	53217693	3	2	86	1	0	0	0	0	1	0	0	0	8507	1551	54	4	499	4	KRT79	12	53217693	Missense_Mutation	SNP	T	TCGA-S6-A8JW-01A-11D-A435-10	27837417	53217693	80634202	31	6038											
COL4A1	1282	mdanderson.org	37	chr13	110835421	110835421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcaggcctggccttcctgGggttccgggaaagcctcggt	4	9	16	12	2	0	0	0	0	0	0	3	1	2	1	5	7	1	2	5	7	1	2			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr13:110835421G>T	ENST00000375820.4	-	28	2135	c.2014C>A	c.(2014-2016)Cca>Aca	p.P672T		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	672	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)			GGCCTTCCTGGGGTTCCGGGA	0.612																																					p.P672T													.	.			0			c.C2014A												18	20	19					13																	110835421		2201	4300	6501	SO:0001583	missense	1282	exon28			TTCCTGGGGTTCC	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.2014C>A	13.37:g.110835421G>T	ENSP00000364979:p.Pro672Thr		77	0	0		54	0.06	3	NM_001845	492	0	0	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165517	0.57476	.	.	ENSG00000187498	ENST00000375820	D	0.94828	-3.53	4.7	4.7	0.59300	.	0.213391	0.38897	N	0.001536	D	0.96503	0.8859	M	0.76574	2.34	0.33190	D	0.550691	D	0.67145	0.996	D	0.68483	0.958	D	0.98169	1.0451	10	0.51188	T	0.08	.	13.8369	0.63415	0.0:0.0:0.8466:0.1534	.	672	P02462	CO4A1_HUMAN	T	672	ENSP00000364979:P672T	ENSP00000364979:P672T	P	-	1	0	COL4A1	109633422	1.000000	0.71417	0.943000	0.38184	0.980000	0.70556	4.159000	0.58157	2.328000	0.79073	0.561000	0.74099	CCA			0.612	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045759.3				T	110835421	G	T	110835421	3	4	86	1	0	0	0	0	1	0	0	0	3691	1232	43	3	3095	3	COL4A1	13	110835421	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		110835421	4334457	32	6039											
PIGH	5283	mdanderson.org	37	chr14	68066816	68066816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgagcgaacgcagcgagagCcgagggcagctgaggcagaa	12	2	18	9	4	0	4	0	2	0	2	0	7	0	4	1	2	5	4	1	2	2	0			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr14:68066816C>T	ENST00000216452.4	-	1	188	c.105G>A	c.(103-105)cgG>cgA	p.R35R	PIGH_ENST00000559581.1_Silent_p.R35R|PIGH_ENST00000560722.1_Silent_p.R35R	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	35					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		GCAGCGAGAGCCGAGGGCAGC	0.672											OREG0022750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R35R													.	.			0			c.G105A												15	16	16					14																	68066816		2182	4283	6465	SO:0001819	synonymous_variant	5283	exon1			CGAGAGCCGAGGG		CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8964	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase subunit"	600154	"phosphatidylinositol glycan, class H"			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.105G>A	14.37:g.68066816C>T			50	0	0	1104	61	0.07	4	NM_004569	41	0	0	B2RAA4	Silent	SNP	ENST00000216452.4	37	CCDS9784.1																																																																																					0.672	PIGH-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000415189.2		NM_004569		T	68066816	C	T	68066816	2	4	86	1	0	0	0	0	0	0	0	1	11906	726	26	2		2	PIGH	14	68066816	Silent	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10		68066816	39282724	33	6040											
C15orf60	283677	mdanderson.org	37	chr15	73735668	73735668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctggaagctgggacagccCcctgccccacatggaaggtg	8	5	14	14	0	0	0	0	0	0	0	0	3	0	3	5	4	3	1	5	4	2	0			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr15:73735668C>T	ENST00000331090.6	+	1	170	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	C15orf60_ENST00000560581.1_Missense_Mutation_p.P48S	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		48					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TGGGACAGCCCCCTGCCCCAC	0.662																																					p.P48S													.	.			0			c.C142T												14	20	18					15																	73735668		1984	4127	6111	SO:0001583	missense	283677	exon1			ACAGCCCCCTGCC																												ENST00000331090.6:c.142C>T	15.37:g.73735668C>T	ENSP00000328423:p.Pro48Ser		20	0	0		23	0.13	3	NM_001042367	0		0		Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.440123	0.01098	.	.	ENSG00000183324	ENST00000331090	T	0.37411	1.2	3.45	-0.803	0.10886	.	1.057130	0.07340	N	0.880641	T	0.09992	0.0245	N	0.01576	-0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.29941	-0.9995	10	0.02654	T	1	-12.7149	3.3853	0.07269	0.0:0.3887:0.2252:0.3861	.	48	Q7Z4M0	CO060_HUMAN	S	48	ENSP00000328423:P48S	ENSP00000328423:P48S	P	+	1	0	C15orf60	71522721	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.949000	0.03893	-0.128000	0.11641	-0.367000	0.07326	CCC			0.662	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419069.1				T	73735668	C	T	73735668	3	4	86	1	0	0	0	0	1	0	0	0	1810	623	22	3	144	3	C15orf60	15	73735668	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10		73735668	28795724	34	6041											
ZNF592	9640	mdanderson.org	37	chr15	85341275	85341275	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccccacagaccctccCagtgagtgcagctccagggc	8	4	10	19	0	0	2	0	1	0	1	2	2	2	2	6	1	3	2	6	1	0	0			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr15:85341275C>A	ENST00000560079.2	+	6	2863	c.2575C>A	c.(2575-2577)Cag>Aag	p.Q859K	ZNF592_ENST00000299927.3_Splice_Site_p.Q859K	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	859					cell death (GO:0008219)|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(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGACCCTCCCAGTGAGTGCA	0.627																																					p.Q859K													.	.			0			c.C2575A												32	32	32					15																	85341275		2203	4299	6502	SO:0001630	splice_region_variant	9640	exon6			CCCTCCCAGTGAG	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2576+1C>A	15.37:g.85341275C>A			43	0	0		43	0.07	3	NM_014630	50	0	0	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263243	0.39995	.	.	ENSG00000166716	ENST00000299927	T	0.32988	1.43	5.67	5.67	0.87782	.	0.056530	0.64402	D	0.000001	T	0.26666	0.0652	N	0.02539	-0.55	0.44477	D	0.997418	D	0.61080	0.989	D	0.70487	0.969	T	0.15150	-1.0447	10	0.05833	T	0.94	-22.2402	17.2545	0.87051	0.0:1.0:0.0:0.0	.	859	Q92610	ZN592_HUMAN	K	859	ENSP00000299927:Q859K	ENSP00000299927:Q859K	Q	+	1	0	ZNF592	83142279	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.541000	0.45735	2.681000	0.91329	0.561000	0.74099	CAG			0.627	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418779.2		NM_014630	Missense_Mutation	A	85341275	C	A	85341275	5	1	86	1	0	0	0	0	0	0	1	0	18045	608	21	3	2585	3	ZNF592	15	85341275	Splice_Site	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10	11605607	85341275	17190117	35	6042											
MAPK8IP3	23162	mdanderson.org	37	chr16	1812424	1812424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctcatggagcggaacCagtacaaggagcggctgatg	10	7	16	8	2	1	1	1	1	0	0	1	4	1	4	1	4	5	3	1	4	3	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr16:1812424C>A	ENST00000250894.4	+	14	1766	c.1609C>A	c.(1609-1611)Cag>Aag	p.Q537K	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.Q531K	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	537					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGCGGAACCAGTACAAGGA	0.662																																					p.Q537K													.	.			0			c.C1609A												52	62	59					16																	1812424		2153	4275	6428	SO:0001583	missense	23162	exon14			CGGAACCAGTACA	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1609C>A	16.37:g.1812424C>A	ENSP00000250894:p.Gln537Lys		42	0	0		51	0.06	3	NM_015133	13	0	0	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	36	5.930570	0.97116	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.88896	-2.44;-2.44	5.79	5.79	0.91817	.	0.115474	0.64402	D	0.000010	D	0.94873	0.8343	M	0.80982	2.52	0.80722	D	1	P;P;D	0.54047	0.947;0.768;0.964	P;P;D	0.69824	0.841;0.517;0.966	D	0.94864	0.8024	10	0.87932	D	0	-24.6164	19.6367	0.95736	0.0:1.0:0.0:0.0	.	538;531;537	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	K	537;531	ENSP00000250894:Q537K;ENSP00000348290:Q531K	ENSP00000250894:Q537K	Q	+	1	0	MAPK8IP3	1752425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.424000	0.80242	2.735000	0.93741	0.655000	0.94253	CAG			0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250508.2		NM_001040439		A	1812424	C	A	1812424	3	1	86	1	0	0	0	0	1	0	0	0	9302	595	21	3	1679	3	MAPK8IP3	16	1812424	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10		1812424	88542329	36	6043											
CLN3	1201	mdanderson.org	37	chr16	28495343	28495343	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacctggcttcgactccggGgcctcggttcttatgagggg	4	11	14	12	3	1	1	0	1	1	0	4	2	2	1	3	6	1	2	3	6	2	4			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr16:28495343G>T	ENST00000569430.1	-	11	1593	c.774C>A	c.(772-774)gcC>gcA	p.A258A	CLN3_ENST00000357806.7_Silent_p.A159A|CLN3_ENST00000567963.1_Silent_p.A258A|CLN3_ENST00000360019.2_Silent_p.A258A|CLN3_ENST00000355477.5_Silent_p.A210A|CLN3_ENST00000395653.4_Silent_p.A158A|CLN3_ENST00000535392.1_Silent_p.A180A|CLN3_ENST00000333496.9_Silent_p.A234A|CLN3_ENST00000357857.9_Silent_p.A204A|CLN3_ENST00000354630.5_Silent_p.A258A|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000568224.1_Silent_p.A180A|CLN3_ENST00000565316.1_Silent_p.A258A|CLN3_ENST00000359984.7_Silent_p.A258A			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	258					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCGACTCCGGGGCCTCGGTTC	0.552																																					p.A258A													.	.			0			c.C774A												43	41	42					16																	28495343		2197	4300	6497	SO:0001819	synonymous_variant	1201	exon10			CTCCGGGGCCTCG	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.774C>A	16.37:g.28495343G>T			67	0	0		48	0.06	3	NM_001042432	105	0	0	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Silent	SNP	ENST00000569430.1	37	CCDS10632.1																																																																																					0.552	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214115.2				T	28495343	G	T	28495343	2	4	86	1	0	0	0	0	0	0	0	1	3545	1219	43	3		3	CLN3	16	28495343	Silent	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	26682919	28495343	61859410	37	6044											
ITGAX	3687	mdanderson.org	37	chr16	31371771	31371771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcagcaggcatcatccGctatgcaattggggtagggc	9	9	14	9	1	1	1	1	1	0	0	2	1	2	1	1	4	3	6	1	4	3	3			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr16:31371771G>T	ENST00000268296.4	+	8	969	c.848G>T	c.(847-849)cGc>cTc	p.R283L	ITGAX_ENST00000562522.1_Missense_Mutation_p.R283L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	283	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	p.R283H(1)		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						GGCATCATCCGCTATGCAATT	0.517																																					p.R283L													ITGAX,NS,carcinoma,0,2	ITGAX	0	2	1	Substitution - Missense(1)	lung(1)	c.G848T												75	76	76					16																	31371771		2197	4300	6497	SO:0001583	missense	3687	exon8			TCATCCGCTATGC	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.848G>T	16.37:g.31371771G>T	ENSP00000268296:p.Arg283Leu		47	0	0		49	0.06	3	NM_000887	8	0	0	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564656	0.65651	.	.	ENSG00000140678	ENST00000268296	D	0.81996	-1.56	4.83	4.83	0.62350	von Willebrand factor, type A (3);	.	.	.	.	D	0.88757	0.6523	L	0.54863	1.705	0.46927	D	0.999259	D	0.89917	1.0	D	0.87578	0.998	D	0.89379	0.3680	9	0.72032	D	0.01	.	15.3011	0.73952	0.0:0.0:1.0:0.0	.	283	P20702	ITAX_HUMAN	L	283	ENSP00000268296:R283L	ENSP00000268296:R283L	R	+	2	0	ITGAX	31279272	0.996000	0.38824	0.973000	0.42090	0.204000	0.24138	4.568000	0.60857	2.658000	0.90341	0.591000	0.81541	CGC			0.517	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255628.2		NM_000887		T	31371771	G	T	31371771	3	4	86	1	0	0	0	0	1	0	0	0	7904	1087	38	1	878	1	ITGAX	16	31371771	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	2876428	31371771	58982982	38	6045											
ARHGEF15	22899	mdanderson.org	37	chr17	8215854	8215854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctgaaggccgggctcAggatgcagatgccccggagc	7	5	18	11	2	1	2	1	1	0	1	1	4	1	4	3	5	4	3	3	5	1	0			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:8215854A>G	ENST00000361926.3	+	2	607	c.497A>G	c.(496-498)cAg>cGg	p.Q166R	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q166R	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	166					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						GGCCGGGCTCAGGATGCAGAT	0.642																																					p.Q166R													.	.			0			c.A497G												37	40	39					17																	8215854		2203	4300	6503	SO:0001583	missense	22899	exon2			GGGCTCAGGATGC	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.497A>G	17.37:g.8215854A>G	ENSP00000355026:p.Gln166Arg		32	0	0		39	0.08	3	NM_025014	24	0	0	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	A	2.035	-0.421538	0.04734	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.75477	-0.94;-0.94	5.65	3.33	0.38152	.	0.404300	0.22658	N	0.057223	T	0.74604	0.3738	L	0.29908	0.895	0.09310	N	1	D;D;P	0.60160	0.987;0.987;0.906	D;D;B	0.67725	0.953;0.953;0.351	T	0.63800	-0.6555	10	0.27785	T	0.31	-5.9664	9.8048	0.40786	0.6642:0.3358:0.0:0.0	.	166;166;67	D3DTR7;O94989;B4DTR5	.;ARHGF_HUMAN;.	R	166;67;166	ENSP00000355026:Q166R;ENSP00000412505:Q166R	ENSP00000355026:Q166R	Q	+	2	0	ARHGEF15	8156579	0.111000	0.22076	0.008000	0.14137	0.019000	0.09904	1.426000	0.34870	0.385000	0.24970	0.454000	0.30748	CAG			0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226993.2		NM_173728		G	8215854	A	G	8215854	3	3	86	1	0	0	0	0	1	0	0	0	898	188	7	4	499	4	ARHGEF15	17	8215854	Missense_Mutation	SNP	A	TCGA-S6-A8JW-01A-11D-A435-10		8215854	72979356	39	6046											
MYH2	4620	mdanderson.org	37	chr17	10428649	10428649	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcaatctgttccgtGaggtcagaaatctcctctgt	7	14	8	12	1	5	2	1	1	4	1	7	2	6	2	3	1	1	2	3	1	2	2	rs375114012	byFrequency	TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:10428649G>T	ENST00000245503.5	-	33	4938	c.4554C>A	c.(4552-4554)ctC>ctA	p.L1518L	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.L1518L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1518					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						TCTGTTCCGTGAGGTCAGAAA	0.388																																					p.L1518L													.	.			0			c.C4554A												95	85	88					17																	10428649		2203	4300	6503	SO:0001819	synonymous_variant	4620	exon33			TTCCGTGAGGTCA		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.4554C>A	17.37:g.10428649G>T			83	0	0		77	0.05	4	NM_001100112	0		0	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																					0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252726.3		NM_017534		T	10428649	G	T	10428649	2	4	86	1	0	0	0	0	0	0	0	1	10051	1277	45	3		3	MYH2	17	10428649	Silent	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	2212795	10428649	70766561	40	6047											
GPR179	440435	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	36485919	36485921	+	In_Frame_Del	DEL	TCT	TCT	-																															gggtcatcctcctgcctctgTcttcttgttccctgctgccc																										TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	TCT	TCT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:36485919_36485921delTCT	ENST00000342292.4	-	11	3551_3553	c.3531_3533delAGA	c.(3529-3534)gaagac>gac	p.E1177del	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1177					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)				CCTGCCTCTGTCTTCTTGTTCCC	0.552																																					p.1178_1178del													.	GPR179	170		0			c.3532_3534del																																									SO:0001651	inframe_deletion	440435	exon11			CCTCTGTCTTCTT		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.3531_3533delAGA	17.37:g.36485922_36485924delTCT	ENSP00000345060:p.Glu1177del		123	0	0		86	0.14	12	NM_001004334	0		0		In_Frame_Del	DEL	ENST00000342292.4	37	CCDS42308.1																																																																																					0.552	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255329.2				-	36485921	TCT	-	36485919	7	5	86	1	0	1	0	1	0	0	0	0	6688	1667	58	0	3574	0	GPR179	17	36485919	In_Frame_Del	DEL	TCT	TCGA-S6-A8JW-01A-11D-A435-10	26057270	36485919	44709291	41	6048											
KRT32	3882	mdanderson.org	37	chr17	39623426	39623426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaaggtggtgggcaggCagaccgaaggcaggcatgcc	9	3	19	10	2	0	1	0	0	0	1	0	3	0	2	3	7	1	4	3	7	2	0			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:39623426C>T	ENST00000225899.3	-	1	255	c.152G>A	c.(151-153)tGc>tAc	p.C51Y	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	51	Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GGTGGGCAGGCAGACCGAAGG	0.672																																					p.C51Y													.	.			0			c.G152A												36	39	38					17																	39623426		2203	4299	6502	SO:0001583	missense	3882	exon1			GGCAGGCAGACCG	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.152G>A	17.37:g.39623426C>T	ENSP00000225899:p.Cys51Tyr		57	0	0		49	0.06	3	NM_002278	0		0		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	7.857	0.725188	0.15439	.	.	ENSG00000108759	ENST00000225899	D	0.82255	-1.59	5.38	2.24	0.28232	.	0.000000	0.36519	N	0.002541	T	0.74854	0.3771	L	0.54323	1.7	0.09310	N	1	B	0.12013	0.005	B	0.20955	0.032	T	0.60146	-0.7320	10	0.29301	T	0.29	.	6.0228	0.19638	0.0:0.6612:0.1605:0.1782	.	51	Q14532	K1H2_HUMAN	Y	51	ENSP00000225899:C51Y	ENSP00000225899:C51Y	C	-	2	0	KRT32	36876952	0.001000	0.12720	0.003000	0.11579	0.387000	0.30353	0.940000	0.28992	0.748000	0.32831	0.563000	0.77884	TGC			0.672	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257293.1		NM_002278		T	39623426	C	T	39623426	3	4	86	1	0	0	0	0	1	0	0	0	8483	710	25	2	1222	2	KRT32	17	39623426	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10	3137507	39623426	41571784	42	6049											
LSM12	124801	broad.mit.edu	37	chr17	42143886	42143886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccacctcgccctgcagccGctgctcctggcacgtccggc	4	7	10	20	4	0	0	0	0	0	0	3	0	2	0	6	2	4	4	6	2	1	1	rs374081346		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr17:42143886G>A	ENST00000591247.1	-	2	392	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	LSM12_ENST00000293406.3_Missense_Mutation_p.R24W|LSM12_ENST00000585388.1_Missense_Mutation_p.R24W	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	24										NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCCTGCAGCCGCTGCTCCTGG	0.662																																					p.R24W													.	LSM12	16		0			c.C70T												17	15	15					17																	42143886		2176	4245	6421	SO:0001583	missense	124801	exon2			GCAGCCGCTGCTC	BC044587	CCDS11475.1	17q21.31	2007-08-21				ENSG00000161654			26407	protein-coding gene	gene with protein product		611793				15225602	Standard	NM_152344		Approved	FLJ30656	uc002iev.3	Q3MHD2		ENST00000591247.1:c.70C>T	17.37:g.42143886G>A	ENSP00000466718:p.Arg24Trp		168	0.005952381	1		165	0.04	6	NM_152344	44	0	0	Q86YB1|Q96NL5	Missense_Mutation	SNP	ENST00000591247.1	37	CCDS11475.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090540	0.76756	.	.	ENSG00000161654	ENST00000293406	T	0.32023	1.47	4.79	2.81	0.32909	.	0.145176	0.44483	D	0.000442	T	0.43656	0.1257	L	0.60455	1.87	0.47778	D	0.999513	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.924	T	0.31024	-0.9958	10	0.72032	D	0.01	-1.1258	5.5541	0.17107	0.169:0.0:0.6732:0.1578	.	24;24	B4DUG4;Q3MHD2	.;LSM12_HUMAN	W	24	ENSP00000293406:R24W	ENSP00000293406:R24W	R	-	1	2	LSM12	39499412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.306000	0.65756	0.628000	0.30357	0.655000	0.94253	CGG			0.662	LSM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457672.1		NM_152344		A	42143886	G	A	42143886	3	1	86	1	0	0	0	0	1	0	0	0	9069	1086	38	1	537	1	LSM12	17	42143886	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	2520460	42143886	39051324	43	6050											
VPS4B	9525	mdanderson.org	37	chr18	61077568	61077568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttctttcactggcttcTgtgcttttttctctttattt	2	24	5	10	0	4	0	1	0	3	0	6	0	5	0	1	1	1	2	1	1	1	9	rs371887990		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr18:61077568T>A	ENST00000238497.5	-	3	454	c.251A>T	c.(250-252)cAg>cTg	p.Q84L	VPS4B_ENST00000591519.1_Missense_Mutation_p.Q84L	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	84					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						CACTGGCTTCTGTGCTTTTTT	0.383																																					p.Q84L													.	.			0			c.A251T												204	186	192					18																	61077568		2203	4300	6503	SO:0001583	missense	9525	exon3			GGCTTCTGTGCTT	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.251A>T	18.37:g.61077568T>A	ENSP00000238497:p.Gln84Leu		81	0	0		48	0.06	3	NM_004869	48	0	0	Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	T	9.941	1.217601	0.22373	.	.	ENSG00000119541	ENST00000238497	T	0.21361	2.01	5.87	5.87	0.94306	.	0.529889	0.20799	N	0.085469	T	0.12178	0.0296	N	0.14661	0.345	0.28190	N	0.92778	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08146	-1.0736	10	0.45353	T	0.12	-14.9507	7.31	0.26469	0.1278:0.0:0.2422:0.6299	.	84;84	A8K4G7;O75351	.;VPS4B_HUMAN	L	84	ENSP00000238497:Q84L	ENSP00000238497:Q84L	Q	-	2	0	VPS4B	59228548	1.000000	0.71417	0.953000	0.39169	0.157000	0.22087	1.916000	0.39986	2.244000	0.73946	0.533000	0.62120	CAG			0.383	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256198.2		NM_004869		A	61077568	T	A	61077568	3	1	86	1	0	0	0	0	1	0	0	0	17237	1580	55	5	1119	5	VPS4B	18	61077568	Missense_Mutation	SNP	T	TCGA-S6-A8JW-01A-11D-A435-10		61077568	16999680	44	6051											
ZNF296	162979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	45575017	45575017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagcttactgctctgggCgcaggcgtagttgcagaact	7	11	14	9	2	1	2	0	1	1	1	1	2	1	2	0	2	5	7	0	2	3	4	rs368413069		TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:45575017C>G	ENST00000303809.2	-	3	1484	c.1270G>C	c.(1270-1272)Gcc>Ccc	p.A424P		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	424					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)|lung(3)|prostate(1)|urinary_tract(2)	7						CTGCTCTGGGCGCAGGCGTAG	0.657																																					p.A424P													.	.			0			c.G1270C												54	56	55					19																	45575017		2203	4300	6503	SO:0001583	missense	162979	exon3			TCTGGGCGCAGGC	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"Zinc fingers, C2H2-type"	15981	protein-coding gene	gene with protein product		613226	"zinc finger protein 342"	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.1270G>C	19.37:g.45575017C>G	ENSP00000302770:p.Ala424Pro		49	0	0		47	0.23	11	NM_145288	86	0.26	22		Missense_Mutation	SNP	ENST00000303809.2	37	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298549	0.60195	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.08008	3.14	5.91	3.67	0.42095	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.112688	0.40222	N	0.001147	T	0.07369	0.0186	N	0.20483	0.58	0.50171	D	0.999853	D	0.52996	0.957	P	0.49887	0.625	T	0.25779	-1.0122	10	0.52906	T	0.07	-24.7733	4.3808	0.11293	0.1587:0.6044:0.1535:0.0833	.	424	Q8WUU4	ZN296_HUMAN	P	424;400	ENSP00000302770:A424P	ENSP00000302770:A424P	A	-	1	0	ZNF296	50266857	0.013000	0.17824	0.595000	0.28798	0.199000	0.23934	0.340000	0.19892	1.495000	0.48549	0.655000	0.94253	GCC			0.657	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457529.1		NM_145288		G	45575017	C	G	45575017	3	3	86	1	0	0	0	0	1	0	0	0	17851	768	27	5	161	5	ZNF296	19	45575017	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10		45575017	13553966	45	6052											
CD3EAP	10849	mdanderson.org	37	chr19	45911458	45911458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaattggcaggcaagcggCaccgctatcgagtcctcagc	10	6	12	13	3	1	0	1	0	0	0	3	1	2	0	2	3	2	5	2	3	3	2			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:45911458C>T	ENST00000309424.3	+	3	720	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	ERCC1_ENST00000423698.2_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.H80Y	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	78					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGGCAAGCGGCACCGCTATCG	0.617																																					p.H78Y													.	.			0			c.C232T												96	95	96					19																	45911458		2203	4300	6503	SO:0001583	missense	10849	exon3			AAGCGGCACCGCT	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.232C>T	19.37:g.45911458C>T	ENSP00000310966:p.His78Tyr		43	0	0		41	0.07	3	NM_012099	102	0.01	1	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776318	0.70107	.	.	ENSG00000117877	ENST00000309424	T	0.13196	2.61	4.94	4.94	0.65067	.	0.382426	0.25968	N	0.027142	T	0.25644	0.0624	L	0.50333	1.59	0.80722	D	1	D;D	0.61697	0.987;0.99	P;P	0.56343	0.693;0.796	T	0.00603	-1.1649	10	0.62326	D	0.03	-2.1602	13.6627	0.62376	0.0:1.0:0.0:0.0	.	80;78	O15446-2;O15446	.;RPA34_HUMAN	Y	78	ENSP00000310966:H78Y	ENSP00000310966:H78Y	H	+	1	0	CD3EAP	50603298	0.635000	0.27199	1.000000	0.80357	0.948000	0.59901	0.806000	0.27126	2.287000	0.76781	0.462000	0.41574	CAC			0.617	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459538.1		NM_012099		T	45911458	C	T	45911458	3	4	86	1	0	0	0	0	1	0	0	0	3014	710	25	2	242	2	CD3EAP	19	45911458	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10	336441	45911458	13217525	46	6053											
TULP2	7288	mdanderson.org	37	chr19	49398749	49398749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactttcttccggaggaaagGgttcccaaggcctgggagaa	10	8	13	10	1	1	1	0	0	1	1	3	4	3	3	3	5	0	1	3	5	3	3			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:49398749G>T	ENST00000221399.3	-	5	367	c.223C>A	c.(223-225)Cct>Act	p.P75T		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	75					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)		CGGAGGAAAGGGTTCCCAAGG	0.592																																					p.P75T													.	.			0			c.C223A												69	75	73					19																	49398749		2203	4300	6503	SO:0001583	missense	7288	exon5			GGAAAGGGTTCCC	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.223C>A	19.37:g.49398749G>T	ENSP00000221399:p.Pro75Thr		37	0	0		45	0.07	3	NM_003323	5	0	0	Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001846	0.35320	.	.	ENSG00000104804	ENST00000221399;ENST00000522945;ENST00000520977;ENST00000522229	D;T;T	0.90197	-2.63;-0.02;-0.65	4.81	3.77	0.43336	.	0.845055	0.10682	N	0.646248	D	0.89972	0.6870	L	0.34521	1.04	0.36029	D	0.839257	D	0.64830	0.994	P	0.59221	0.854	D	0.85624	0.1266	10	0.24483	T	0.36	-7.3373	9.1589	0.37009	0.1027:0.0:0.8973:0.0	.	75	O00295	TULP2_HUMAN	T	75;72;56;31	ENSP00000221399:P75T;ENSP00000430040:P72T;ENSP00000428535:P56T	ENSP00000221399:P75T	P	-	1	0	TULP2	54090561	1.000000	0.71417	0.669000	0.29828	0.199000	0.23934	2.007000	0.40883	1.136000	0.42199	0.549000	0.68633	CCT			0.592	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378633.1		NM_003323		T	49398749	G	T	49398749	3	4	86	1	0	0	0	0	1	0	0	0	16798	1232	43	3	1375	3	TULP2	19	49398749	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	3487291	49398749	9730234	47	6054											
SCAF1	58506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50149824	50149824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttcctcgcagggctggtGagtgtcctggatcccccgga	5	9	14	13	2	0	1	0	1	0	0	4	3	3	3	4	4	1	3	4	4	0	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr19:50149824G>A	ENST00000360565.3	+	5	427	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	101					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)		CAGGGCTGGTGAGTGTCCTGG	0.642																																					p.V101V													.	.			0			c.G303A												71	65	67					19																	50149824		2203	4300	6503	SO:0001819	synonymous_variant	58506	exon5			GCTGGTGAGTGTC	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.303G>A	19.37:g.50149824G>A			63	0	0		55	0.24	13	NM_021228	118	0.09	11	Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	CCDS33074.1																																																																																					0.642	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465764.1		NM_021228		A	50149824	G	A	50149824	2	1	86	1	0	0	0	0	0	0	0	1	13891	1277	45	3		3	SCAF1	19	50149824	Silent	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	751075	50149824	8979159	48	6055											
GFRA4	64096	mdanderson.org	37	chr20	3644039	3644039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcaggccccaggcagCggaccatgctggaccttcaa	9	4	13	15	2	1	0	1	0	0	0	1	2	1	2	4	4	3	4	4	4	1	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr20:3644039C>T	ENST00000319242.3	-	1	7	c.8G>A	c.(7-9)cGc>cAc	p.R3H	GFRA4_ENST00000290417.2_Missense_Mutation_p.R3H			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	3					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						CCCCAGGCAGCGGACCATGCT	0.632																																					p.R3H													.	.			0			c.G8A												45	44	45					20																	3644039		2202	4299	6501	SO:0001583	missense	64096	exon1			AGGCAGCGGACCA	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.8G>A	20.37:g.3644039C>T	ENSP00000313423:p.Arg3His		33	0	0		31	0.1	3	NM_145762	0		0	Q5JT74|Q9H191|Q9H192	Missense_Mutation	SNP	ENST00000319242.3	37	CCDS13056.1	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466414	0.04476	.	.	ENSG00000125861	ENST00000290417;ENST00000319242	.	.	.	3.14	-6.28	0.02020	.	0.427222	0.21489	N	0.073701	T	0.09291	0.0229	N	0.02011	-0.69	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	0.09228	-1.0684	9	0.30078	T	0.28	-0.3082	4.3445	0.11126	0.2547:0.219:0.0:0.5263	.	3;3;3	Q9GZZ7-3;Q9GZZ7;Q9GZZ7-2	.;GFRA4_HUMAN;.	H	3	.	ENSP00000290417:R3H	R	-	2	0	GFRA4	3592039	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.696000	0.00827	-1.955000	0.01023	-0.390000	0.06520	CGC			0.632	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000077744.1		NM_145762		T	3644039	C	T	3644039	3	4	86	1	0	0	0	0	1	0	0	0	6364	768	27	1	911	1	GFRA4	20	3644039	Missense_Mutation	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10		3644039	59381481	49	6056											
DTD1	92675	mdanderson.org	37	chr20	18724893	18724893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctctgaacgggagccGtagctcaggaggcagaattc	9	8	14	10	2	2	2	1	1	1	1	4	4	3	4	2	3	3	3	2	3	3	2			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr20:18724893G>A	ENST00000377452.3	+	5	807	c.627G>A	c.(625-627)ccG>ccA	p.P209P		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	209					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						AACGGGAGCCGTAGCTCAGGA	0.547																																					p.P209P													DTD1,caecum,carcinoma,+2,2	DTD1	2	2	0			c.G627A												55	48	50					20																	18724893		2203	4300	6503	SO:0001819	synonymous_variant	92675	exon5			GGAGCCGTAGCTC	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"chromosome 20 open reading frame 88", "D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.627G>A	20.37:g.18724893G>A			40	0	0		40	0.08	3	NM_080820	82	0	0	A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	ENST00000377452.3	37	CCDS13138.1																																																																																					0.547	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078189.3		NM_080820		A	18724893	G	A	18724893	2	1	86	1	0	0	0	0	0	0	0	1	4791	1132	40	1		1	DTD1	20	18724893	Silent	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	15080854	18724893	44300627	50	6057											
CLDN14	23562	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr21	37833709	37833709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccgatgacggcgcaggcGcaggctatgcccgagagcag	9	4	15	13	5	0	2	0	1	0	1	1	4	1	2	2	3	2	4	2	3	1	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr21:37833709G>A	ENST00000399137.1	-	3	1151	c.285C>T	c.(283-285)tgC>tgT	p.C95C	CLDN14_ENST00000342108.2_Silent_p.C95C|CLDN14_ENST00000399135.1_Silent_p.C95C|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Silent_p.C95C|AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000399136.1_Silent_p.C95C	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	95					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						CGGCGCAGGCGCAGGCTATGC	0.672																																					p.C95C													CLDN14,NS,carcinoma,0,1	CLDN14	0	1	0			c.C285T												50	46	47					21																	37833709		2203	4299	6502	SO:0001819	synonymous_variant	23562	exon3			GCAGGCGCAGGCT	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.285C>T	21.37:g.37833709G>A			49	0.0204081633	1		63	0.08	5	NM_144492	0		0		Silent	SNP	ENST00000399137.1	37	CCDS13645.1																																																																																					0.672	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194697.1		NM_144492		A	37833709	G	A	37833709	2	1	86	1	0	0	0	0	0	0	0	1	3477	1079	38	1		1	CLDN14	21	37833709	Silent	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		37833709	10296186	51	6058											
PIK3IP1	113791	broad.mit.edu	37	chr22	31685584	31685584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcactccgagcgggcaGggcgttggcaggagcgaaca	8	4	16	13	5	1	0	1	0	0	0	2	3	2	1	2	4	3	3	2	4	1	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr22:31685584G>T	ENST00000215912.5	-	4	592	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	PIK3IP1_ENST00000441972.1_Missense_Mutation_p.L137M|PIK3IP1_ENST00000402249.3_Missense_Mutation_p.L137M|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.L58M|RP3-400N23.6_ENST00000440456.1_RNA	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	137					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						CGAGCGGGCAGGGCGTTGGCA	0.627																																					p.L137M													.	PIK3IP1	20		0			c.C409A												26	16	20					22																	31685584		2193	4280	6473	SO:0001583	missense	113791	exon4			CGGGCAGGGCGTT	BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.409C>A	22.37:g.31685584G>T	ENSP00000215912:p.Leu137Met		79	0	0		95	0.04	4	NM_001135911	24	0	0	B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Missense_Mutation	SNP	ENST00000215912.5	37	CCDS13893.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644294	0.47258	.	.	ENSG00000100100	ENST00000215912;ENST00000416925;ENST00000441972;ENST00000487265;ENST00000402249	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.49	2.29	0.28610	.	0.413038	0.26792	N	0.022475	T	0.60444	0.2269	M	0.61703	1.905	0.23649	N	0.997209	D;D;D;D	0.89917	0.989;1.0;0.993;0.979	P;D;P;P	0.91635	0.781;0.999;0.891;0.707	T	0.45556	-0.9253	10	0.59425	D	0.04	-8.7357	8.5872	0.33666	0.2849:0.0:0.7151:0.0	.	137;137;58;137	B4DRR9;Q96FE7-2;D1MEI0;Q96FE7	.;.;.;P3IP1_HUMAN	M	137;115;137;58;137	ENSP00000215912:L137M;ENSP00000415608:L137M;ENSP00000441361:L58M;ENSP00000385204:L137M	ENSP00000215912:L137M	L	-	1	2	PIK3IP1	30015584	1.000000	0.71417	0.868000	0.34077	0.437000	0.31866	2.094000	0.41719	1.333000	0.45449	-0.140000	0.14226	CTG			0.627	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321939.1		NM_052880		T	31685584	G	T	31685584	3	4	86	1	0	0	0	0	1	0	0	0	11934	991	35	3	394	3	PIK3IP1	22	31685584	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		31685584	19618982	52	6059											
IL2RB	3560	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	37540125	37540125	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgtcagggtcctcacCattcaccgctgcagatgccc	8	9	9	15	1	4	2	4	0	0	2	5	2	5	2	4	1	2	2	4	1	0	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chr22:37540125C>T	ENST00000216223.5	-	2	286	c.88G>A	c.(88-90)Ggc>Agc	p.G30S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	30					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|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)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGTCCTCACCATTCACCGCT	0.607																																					p.G30S													.	.			0			c.G88A												44	36	38					22																	37540125		2133	4161	6294	SO:0001630	splice_region_variant	3560	exon2			CCTCACCATTCAC	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.88+1G>A	22.37:g.37540125C>T			108	0	0		131	0.34	45	NM_000878	63	0.03	2	B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	9.405	1.078978	0.20227	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	4.75	3.73	0.42828	.	0.548929	0.18768	N	0.131695	D	0.89185	0.6643	N	0.22421	0.69	0.29450	N	0.858555	B	0.33171	0.4	B	0.30855	0.121	T	0.83174	-0.0092	9	.	.	.	-14.29	8.9266	0.35643	0.0:0.8954:0.0:0.1046	.	30	P14784	IL2RB_HUMAN	S	30	ENSP00000216223:G30S;ENSP00000403731:G30S;ENSP00000402685:G30S;ENSP00000401020:G30S	.	G	-	1	0	IL2RB	35870071	0.966000	0.33281	0.778000	0.31720	0.014000	0.08584	2.316000	0.43761	1.116000	0.41820	0.555000	0.69702	GGC			0.607	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318792.1			Missense_Mutation	T	37540125	C	T	37540125	5	4	86	1	0	0	0	0	0	0	1	0	7702	608	21	3	1603	3	IL2RB	22	37540125	Splice_Site	SNP	C	TCGA-S6-A8JW-01A-11D-A435-10	5854541	37540125	13764441	53	6060											
SYTL5	94122	mdanderson.org	37	chrX	37966002	37966002	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatctggccataggagatGaaaagaaacagaggacagat	19	5	12	5	0	1	5	0	1	1	4	1	8	1	6	1	3	1	0	1	3	5	1			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chrX:37966002G>T	ENST00000357972.5	+	11	1858	c.1312G>T	c.(1312-1314)Gaa>Taa	p.E438*	SYTL5_ENST00000297875.2_Nonsense_Mutation_p.E438*|SYTL5_ENST00000456733.2_Nonsense_Mutation_p.E460*|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	438	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						CATAGGAGATGAAAAGAAACA	0.408																																					p.E460X													.	.			0			c.G1378T												119	96	104					X																	37966002		2202	4299	6501	SO:0001587	stop_gained	94122	exon11			GGAGATGAAAAGA		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.1312G>T	X.37:g.37966002G>T	ENSP00000350657:p.Glu438*		91	0	0		113	0.04	5	NM_001163334	56	0	0	A2RRF2	Nonsense_Mutation	SNP	ENST00000357972.5	37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	44	10.748973	0.99460	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-19.5879	18.8337	0.92151	0.0:0.0:1.0:0.0	.	.	.	.	X	438;438;460	.	ENSP00000297875:E438X	E	+	1	0	SYTL5	37850946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.394000	0.81467	0.594000	0.82650	GAA			0.408	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000080883.1		NM_138780		T	37966002	G	T	37966002	4	4	86	1	0	0	0	0	0	1	0	0	15509	1291	45	3	1420	3	SYTL5	23	37966002	Nonsense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10		37966002	117304558	54	6061											
ARHGAP4	393	mdanderson.org	37	chrX	153173197	153173197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcacctcagtgtggcttggGggtcgtgtctaggccctggg	3	10	18	10	1	2	0	1	0	1	0	3	0	2	0	2	6	0	2	2	6	1	2			TCGA-S6-A8JW-01A-11D-A435-10	TCGA-S6-A8JW-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9534fce9-9120-43fd-9809-8cfd7c576dd4	c4268ca5-c111-4ee9-a0a0-1c493706c007	g.chrX:153173197G>T	ENST00000350060.5	-	22	2868	c.2827C>A	c.(2827-2829)Ccc>Acc	p.P943T	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P920T|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.P983T|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.P765T|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P922T|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	943					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)					TGTGGCTTGGGGGTCGTGTCT	0.721																																					p.P983T													.	.			0			c.C2947A												10	13	12					X																	153173197		2048	4080	6128	SO:0001583	missense	393	exon23			GCTTGGGGGTCGT	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.2827C>A	X.37:g.153173197G>T	ENSP00000203786:p.Pro943Thr		37	0	0		32	0.09	3	NM_001164741	104	0	0	Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	g	10.03	1.239821	0.22711	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.09073	3.04;3.03;3.04;3.02;3.04	3.83	-0.559	0.11792	.	1.407440	0.05134	N	0.493135	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	B;B	0.23650	0.089;0.037	B;B	0.26969	0.075;0.047	T	0.41998	-0.9477	10	0.52906	T	0.07	.	1.8357	0.03139	0.1144:0.1668:0.375:0.3439	.	983;943	Q86UY3;P98171	.;RHG04_HUMAN	T	765;983;943;922;920	ENSP00000377322:P765T;ENSP00000359045:P983T;ENSP00000203786:P943T;ENSP00000359033:P922T;ENSP00000444169:P920T	ENSP00000203786:P943T	P	-	1	0	ARHGAP4	152826391	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.304000	0.08199	-0.389000	0.07786	0.418000	0.28097	CCC			0.721	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061119.1		NM_001666		T	153173197	G	T	153173197	3	4	86	1	0	0	0	0	1	0	0	0	885	1232	43	3	17	3	ARHGAP4	23	153173197	Missense_Mutation	SNP	G	TCGA-S6-A8JW-01A-11D-A435-10	115207195	153173197	2097363	55	6062											
CDA	978	mdanderson.org	37	chr1	20931514	20931514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagggtacaaggatttcaGggcaattgctatcgccaggt	12	9	13	7	1	1	1	1	0	0	1	2	2	1	2	1	4	2	3	1	4	5	4			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr1:20931514G>T	ENST00000375071.3	+	2	430	c.248G>T	c.(247-249)aGg>aTg	p.R83M	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	83	CMP/dCMP deaminase zinc-binding.				cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|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)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	AAGGATTTCAGGGCAATTGCT	0.468																																					p.R83M	Pancreas(74;49 1356 2772 27818 40529)												.	.			0			c.G248T												93	82	86					1																	20931514		2203	4300	6503	SO:0001583	missense	978	exon2			ATTTCAGGGCAAT	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.248G>T	1.37:g.20931514G>T	ENSP00000364212:p.Arg83Met		52	0	0		55	0.05	3	NM_001785	45	0	0		Missense_Mutation	SNP	ENST00000375071.3	37	CCDS210.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.146862	0.37923	.	.	ENSG00000158825	ENST00000375071	T	0.43688	0.94	5.74	-1.66	0.08265	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.453061	0.26692	N	0.022989	T	0.42359	0.1199	M	0.62154	1.92	0.36219	D	0.851848	P	0.49307	0.922	P	0.46885	0.53	T	0.52939	-0.8508	10	0.72032	D	0.01	.	11.1997	0.48734	0.5175:0.0:0.4825:0.0	.	83	P32320	CDD_HUMAN	M	83	ENSP00000364212:R83M	ENSP00000364212:R83M	R	+	2	0	CDA	20804101	0.978000	0.34361	0.873000	0.34254	0.233000	0.25261	0.381000	0.20619	-0.629000	0.05575	-1.164000	0.01763	AGG			0.468	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007965.1		NM_001785		T	20931514	G	T	20931514	3	4	87	1	0	0	0	0	1	0	0	0	3054	1000	35	3	254	3	CDA	1	20931514	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		20931514	228319107	1	6063											
EIF4G3	8672	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	21205927	21205927	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgctcctctgtgtcaacAgtaagtcctgacacttgctt	8	12	8	13	1	2	1	1	1	1	0	4	1	4	1	3	0	3	3	3	0	2	3			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr1:21205927A>G	ENST00000264211.8	-	14	2537	c.2343T>C	c.(2341-2343)acT>acC	p.T781T	EIF4G3_ENST00000537738.1_Silent_p.T271T|EIF4G3_ENST00000602326.1_Silent_p.T787T|EIF4G3_ENST00000374937.3_Silent_p.T787T|EIF4G3_ENST00000400422.1_Silent_p.T781T|EIF4G3_ENST00000536266.1_Silent_p.T385T|EIF4G3_ENST00000374935.3_Silent_p.T501T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	781	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	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)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGTGTCAACAGTAAGTCCTG	0.423																																					p.T817T													.	.			0			c.T2451C												253	250	251					1																	21205927		2203	4300	6503	SO:0001819	synonymous_variant	8672	exon18			GTCAACAGTAAGT	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2343T>C	1.37:g.21205927A>G			110	0	0		106	0.31	33	NM_001198801	61	0.41	25	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																					0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000007467.3		NM_003760		G	21205927	A	G	21205927	2	3	87	1	0	0	0	0	0	0	0	1	5045	175	7	4		4	EIF4G3	1	21205927	Silent	SNP	A	TCGA-S6-A8JX-01A-11D-A435-10	274413	21205927	228044694	2	6064											
CSMD2	114784	ucsc.edu;bcgsc.ca	37	chr1	34192157	34192157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcacaagcacctgtcgaagGtgattttgatggggtagcct	9	11	13	8	1	1	2	1	2	0	0	2	3	1	2	2	3	2	2	2	3	3	3			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr1:34192157G>T	ENST00000373381.4	-	16	2674	c.2498C>A	c.(2497-2499)aCc>aAc	p.T833N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	793	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)				CCTGTCGAAGGTGATTTTGAT	0.597																																					p.T793N													.	CSMD2	946		0			c.C2378A												52	56	55					1																	34192157		2203	4300	6503	SO:0001583	missense	114784	exon16			TCGAAGGTGATTT	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.2498C>A	1.37:g.34192157G>T	ENSP00000362479:p.Thr833Asn		47	0	0		32	0.13	4	NM_052896	6	0	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.932592	0.73442	.	.	ENSG00000121904	ENST00000373381	T	0.18174	2.23	5.77	5.77	0.91146	CUB (5);	0.056259	0.64402	D	0.000001	T	0.28333	0.0700	L	0.39514	1.22	0.80722	D	1	P;P	0.45634	0.863;0.863	P;P	0.53809	0.735;0.735	T	0.00217	-1.1909	10	0.28530	T	0.3	.	18.9793	0.92749	0.0:0.0:1.0:0.0	.	793;833	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	833	ENSP00000362479:T833N	ENSP00000241312:T793N	T	-	2	0	CSMD2	33964744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.199000	0.65152	2.712000	0.92718	0.655000	0.94253	ACC			0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_052896		T	34192157	G	T	34192157	3	4	87	1	0	0	0	0	1	0	0	0	3947	1261	44	3	8301	3	CSMD2	1	34192157	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	12986230	34192157	215058464	3	6065											
LRRN2	10446	hgsc.bcm.edu;bcgsc.ca	37	chr1	204587180	204587181	+	Frame_Shift_Ins	INS	-	-	A																															ggcctgtgccaaggtgggccINSgctagcccagctgccaggag																								rs182204828|rs375246174	byFrequency	TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr1:204587180_204587181insA	ENST00000367175.1	-	1	4152_4153	c.1940_1941insT	c.(1939-1941)gcgfs	p.A647fs	LRRN2_ENST00000367176.3_Frame_Shift_Ins_p.A647fs|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Frame_Shift_Ins_p.A647fs|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	647					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A647V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CAAGGTGGGCCGCTAGCCCAGC	0.658																																					p.A647fs													.	LRRN2	81		1	Substitution - Missense(1)	large_intestine(1)	c.1941_1942insT																																									SO:0001589	frameshift_variant	10446	exon3			GTGGGCCGCTAGC	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1940_1941insT	1.37:g.204587180_204587181insA	ENSP00000356143:p.Ala647fs		66	0	0		59	0.17	10	NM_006338	3	0	0	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Frame_Shift_Ins	INS	ENST00000367175.1	37	CCDS1448.1																																																																																					0.658	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000089894.1		NM_006338		A	204587181	-	A	204587180	7	5	87	1	0	1	1	0	0	0	0	0	9051	639	23	0	204	0	LRRN2	1	204587180	Frame_Shift_Ins	INS	-	TCGA-S6-A8JX-01A-11D-A435-10	170395023	204587180	44663441	4	6066											
USH2A	7399	mdanderson.org	37	chr1	215814071	215814071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaatggggctcggtactGaggcactgtggggagaaagt	11	7	17	6	2	0	2	0	1	0	1	1	4	0	2	0	6	1	3	0	6	4	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr1:215814071G>T	ENST00000307340.3	-	68	15183	c.14797C>A	c.(14797-14799)Cag>Aag	p.Q4933K	USH2A_ENST00000366943.2_Missense_Mutation_p.Q4933K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4933					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)		GCTCGGTACTGAGGCACTGTG	0.448										HNSCC(13;0.011)																											p.Q4933K													.	.			0			c.C14797A												90	82	85					1																	215814071		2203	4300	6503	SO:0001583	missense	7399	exon68			GGTACTGAGGCAC	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.14797C>A	1.37:g.215814071G>T	ENSP00000305941:p.Gln4933Lys		65	0	0		49	0.06	3	NM_206933	0		0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.054971	0.19907	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12465	2.69;2.68	5.12	4.2	0.49525	Fibronectin, type III (2);	0.176645	0.27185	N	0.020525	T	0.13030	0.0316	L	0.53249	1.67	0.37725	D	0.925065	P	0.35745	0.518	B	0.35182	0.197	T	0.03403	-1.1040	10	0.06099	T	0.92	.	14.3092	0.66405	0.0:0.1483:0.8517:0.0	.	4933	O75445	USH2A_HUMAN	K	4933	ENSP00000305941:Q4933K;ENSP00000355910:Q4933K	ENSP00000305941:Q4933K	Q	-	1	0	USH2A	213880694	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.206000	0.51098	1.278000	0.44430	0.655000	0.94253	CAG			0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128138.1		NM_007123		T	215814071	G	T	215814071	3	4	87	1	0	0	0	0	1	0	0	0	17060	1299	45	3	831	3	USH2A	1	215814071	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	11226891	215814071	33436550	5	6067											
TTC13	79573	mdanderson.org	37	chr1	231075185	231075185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgtatagcatagctatagGctggtttttgttcagttcta	8	19	9	5	0	2	0	1	0	1	0	2	0	2	0	0	2	2	7	0	2	6	11			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr1:231075185G>T	ENST00000366661.4	-	8	854	c.847C>A	c.(847-849)Cct>Act	p.P283T	TTC13_ENST00000366662.4_Missense_Mutation_p.P230T|TTC13_ENST00000414259.1_Missense_Mutation_p.P230T	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	283										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATAGCTATAGGCTGGTTTTTG	0.388																																					p.P283T													.	.			0			c.C847A												97	92	94					1																	231075185		2203	4300	6503	SO:0001583	missense	79573	exon8			CTATAGGCTGGTT		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.847C>A	1.37:g.231075185G>T	ENSP00000355621:p.Pro283Thr		37	0	0		37	0.08	3	NM_024525	6	0	0	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301871	0.81136	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.63744	-0.06;1.11;1.11	5.14	5.14	0.70334	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.41415	1.275	0.80722	D	1	D;D;P;D	0.89917	0.984;1.0;0.949;0.98	P;D;P;P	0.91635	0.831;0.999;0.465;0.779	T	0.70139	-0.4954	10	0.33141	T	0.24	-5.9987	18.598	0.91236	0.0:0.0:1.0:0.0	.	208;230;230;283	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	T	283;230;230	ENSP00000355621:P283T;ENSP00000355622:P230T;ENSP00000416631:P230T	ENSP00000355621:P283T	P	-	1	0	TTC13	229141808	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.391000	0.81399	0.591000	0.81541	CCT			0.388	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092229.2		NM_024525		T	231075185	G	T	231075185	3	4	87	1	0	0	0	0	1	0	0	0	16704	1203	42	2	1799	2	TTC13	1	231075185	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	15261114	231075185	18175436	6	6068											
MAP1LC3C	440738	mdanderson.org	37	chr1	242162272	242162272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagcttttcctctgcttGaagggtctgacgcttgggat	6	13	11	11	1	2	2	0	2	2	0	3	3	3	3	2	2	2	3	2	2	2	4			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr1:242162272G>T	ENST00000357246.3	-	1	103	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	13					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCCTCTGCTTGAAGGGTCTGA	0.453											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F13L													.	.			0			c.C39A												79	84	83					1																	242162272		2202	4299	6501	SO:0001583	missense	440738	exon1			CTGCTTGAAGGGT	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.39C>A	1.37:g.242162272G>T	ENSP00000349785:p.Phe13Leu		63	0	0	2432	39	0.08	3	NM_001004343	0		0	A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127348	0.56721	.	.	ENSG00000197769	ENST00000357246	T	0.62105	0.05	3.78	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	M	0.83223	2.63	0.41456	D	0.98801	P	0.45531	0.86	P	0.46629	0.522	T	0.64132	-0.6479	10	0.87932	D	0	.	5.2524	0.15529	0.1879:0.1698:0.6423:0.0	.	13	Q9BXW4	MLP3C_HUMAN	L	13	ENSP00000349785:F13L	ENSP00000349785:F13L	F	-	3	2	MAP1LC3C	240228895	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.959000	0.40412	0.271000	0.22005	0.637000	0.83480	TTC			0.453	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096185.1		NM_001004343		T	242162272	G	T	242162272	3	4	87	1	0	0	0	0	1	0	0	0	9249	1281	45	3	420	3	MAP1LC3C	1	242162272	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	11087087	242162272	7088349	7	6069											
MATN3	4148	broad.mit.edu	37	chr2	20202975	20202975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttggctacactcacagTggtgcttgccttccccatca	7	12	7	15	0	2	0	2	0	0	0	4	0	4	0	4	2	3	2	4	2	1	4	rs373579350		TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr2:20202975T>C	ENST00000407540.3	-	3	925	c.863A>G	c.(862-864)cAc>cGc	p.H288R	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Intron	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	288	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)					ACACTCACAGTGGTGCTTGCC	0.537																																					p.H288R													.	MATN3	28		0			c.A863G												120	113	115					2																	20202975		2037	4189	6226	SO:0001583	missense	4148	exon3			TCACAGTGGTGCT	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.863A>G	2.37:g.20202975T>C	ENSP00000383894:p.His288Arg		55	0	0		141	0.03	4	NM_002381	25	0.08	2	B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356678	0.24598	.	.	ENSG00000132031	ENST00000407540	D	0.86865	-2.18	5.5	5.5	0.81552	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.252898	0.40302	N	0.001125	T	0.70587	0.3241	N	0.05510	-0.035	0.80722	D	1	B	0.21452	0.056	B	0.15484	0.013	T	0.65809	-0.6078	10	0.11182	T	0.66	-33.7623	9.002	0.36088	0.1644:0.0:0.0:0.8356	.	288	O15232	MATN3_HUMAN	R	288	ENSP00000383894:H288R	ENSP00000383894:H288R	H	-	2	0	MATN3	20066456	0.938000	0.31826	1.000000	0.80357	0.790000	0.44656	1.054000	0.30455	2.099000	0.63709	0.528000	0.53228	CAC			0.537	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323925.1	rescued with RNA-seq	NM_002381		C	20202975	T	C	20202975	3	2	87	1	0	0	0	0	1	0	0	0	9351	1696	59	4	621	4	MATN3	2	20202975	Missense_Mutation	SNP	T	TCGA-S6-A8JX-01A-11D-A435-10		20202975	222996398	8	6070											
DYNC2LI1	51626	hgsc.bcm.edu	37	chr2	44021861	44021861	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatcacaaacaacttctttAgatttttatgcatgacttga	14	15	4	8	0	2	3	1	2	1	1	2	3	2	3	0	0	3	1	0	0	4	7			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr2:44021861A>C	ENST00000260605.8	+	6	607				DYNC2LI1_ENST00000605786.1_Intron|DYNC2LI1_ENST00000489222.2_Intron|DYNC2LI1_ENST00000406852.3_Silent_p.R196R|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000398823.2_3'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAACTTCTTTAGATTTTTATG	0.328																																					p.R196R													.	.			0			c.A586C												82	97	91					2																	44021861		1327	2309	3636	SO:0001627	intron_variant	51626	exon6			TTCTTTAGATTTT		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"Cytoplasmic dyneins"	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.507+79A>C	2.37:g.44021861A>C			130	0	0		170	0.04	7	NM_015522	3	0	0	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Silent	SNP	ENST00000260605.8	37	CCDS1813.1																																																																																					0.328	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000250536.2		NM_016008		C	44021861	A	C	44021861	1	2	87	0	1	0	0	0	0	0	0	0	4852	412	15	4		4	DYNC2LI1	2	44021861	Intron	SNP	A	TCGA-S6-A8JX-01A-11D-A435-10	23818886	44021861	199177512	9	6071											
SPHKAP	80309	mdanderson.org	37	chr2	228996729	228996729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggagttccccgggccGcttcctgagctgccacagcc	5	8	13	15	2	0	2	0	2	0	0	2	3	2	3	6	2	3	3	6	2	0	2	rs533368400		TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr2:228996729G>T	ENST00000392056.3	-	2	151	c.105C>A	c.(103-105)agC>agA	p.S35R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S35R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	35						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S35R(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCCCGGGCCGCTTCCTGAGC	0.468																																					p.S35R													SPHKAP_ENST00000392056,NS,carcinoma,0,2	SPHKAP_ENST00000392056	0	2	2	Substitution - Missense(2)	lung(2)	c.C105A												82	89	87					2																	228996729		2203	4300	6503	SO:0001583	missense	80309	exon2			CGGGCCGCTTCCT		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.105C>A	2.37:g.228996729G>T	ENSP00000375909:p.Ser35Arg		34	0	0		40	0.08	3	NM_030623	0		0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763776	0.31228	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.39229	1.09;1.09	5.93	3.15	0.36227	.	0.354583	0.30151	N	0.010291	T	0.35711	0.0941	N	0.19112	0.55	0.09310	N	1	P;D	0.55385	0.95;0.971	P;P	0.53689	0.544;0.732	T	0.10497	-1.0627	10	0.42905	T	0.14	.	7.3608	0.26745	0.2767:0.0:0.7233:0.0	.	35;35	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	35	ENSP00000375909:S35R;ENSP00000339886:S35R	ENSP00000339886:S35R	S	-	3	2	SPHKAP	228704973	0.993000	0.37304	0.013000	0.15412	0.031000	0.12232	1.715000	0.37971	0.404000	0.25506	0.655000	0.94253	AGC			0.468	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000331750.1		NM_030623		T	228996729	G	T	228996729	3	4	87	1	0	0	0	0	1	0	0	0	15071	1078	38	1	5041	1	SPHKAP	2	228996729	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	184974868	228996729	14202644	10	6072											
ARPP21	10777	ucsc.edu	37	chr3	35724364	35724364	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaggctcagaatcaaGaaagaagaaaatccaaggta	18	5	12	6	0	2	4	2	0	0	4	3	5	3	5	1	4	0	3	1	4	8	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr3:35724364G>T	ENST00000187397.4	+	4	610	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	ARPP21_ENST00000396481.2_Nonsense_Mutation_p.E52*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000441454.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000412048.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000474696.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.E52*|ARPP21_ENST00000396482.2_Nonsense_Mutation_p.E52*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000438071.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000427542.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000428373.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000432682.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000436702.1_Nonsense_Mutation_p.E52*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.E52*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	52					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCAGAATCAAGAAAGAAGAAA	0.348																																					p.E52X													.	ARPP21	153		0			c.G154T												85	96	92					3																	35724364		2203	4300	6503	SO:0001587	stop_gained	10777	exon3			AATCAAGAAAGAA	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.154G>T	3.37:g.35724364G>T	ENSP00000187397:p.Glu52*		60	0	0		34	0.12	4	NM_001267618	0		0	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	36	5.728953	0.96856	.	.	ENSG00000172995	ENST00000450234;ENST00000428373;ENST00000458225;ENST00000337271;ENST00000444190;ENST00000449196;ENST00000187397;ENST00000452563;ENST00000438577;ENST00000427542;ENST00000474696;ENST00000412048;ENST00000396482;ENST00000432682;ENST00000432450;ENST00000413378;ENST00000417925;ENST00000396481;ENST00000441454;ENST00000436702;ENST00000438071	.	.	.	6.02	5.1	0.69264	.	0.224065	0.38492	N	0.001675	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-22.8009	12.4388	0.55614	0.0:0.1679:0.8321:0.0	.	.	.	.	X	52	.	ENSP00000187397:E52X	E	+	1	0	ARPP21	35699368	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.405000	0.52630	2.865000	0.98341	0.655000	0.94253	GAA			0.348	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253334.2		NM_198399		T	35724364	G	T	35724364	4	4	87	1	0	0	0	0	0	1	0	0	978	943	33	3	160	3	ARPP21	3	35724364	Nonsense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		35724364	162298066	11	6073											
LRRFIP2	9209	bcgsc.ca	37	chr3	37100309	37100309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgaactgcaagtctgaGccattctgcagtcctgccag	9	10	10	12	1	2	2	0	2	2	0	4	3	3	2	3	0	5	2	3	0	2	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr3:37100309G>T	ENST00000336686.4	-	25	1922	c.1842C>A	c.(1840-1842)ggC>ggA	p.G614G	LRRFIP2_ENST00000440230.1_Silent_p.G317G|LRRFIP2_ENST00000421276.2_Silent_p.G317G|LRRFIP2_ENST00000354379.4_Silent_p.G293G|LRRFIP2_ENST00000421307.1_Silent_p.G614G|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000396428.2_Silent_p.G396G			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	614					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCAAGTCTGAGCCATTCTGCA	0.507																																					p.G614G													.	LRRFIP2	71		1	Whole gene deletion(1)	ovary(1)	c.C1842A												148	124	133					3																	37100309		2203	4300	6503	SO:0001819	synonymous_variant	9209	exon26			GTCTGAGCCATTC	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1842C>A	3.37:g.37100309G>T			46	0	0		48	0.08	4	NM_006309	113	0	0	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	ENST00000336686.4	37	CCDS2664.1																																																																																					0.507	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000253335.3		NM_006309		T	37100309	G	T	37100309	2	4	87	1	0	0	0	0	0	0	0	1	9044	958	34	2		2	LRRFIP2	3	37100309	Silent	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	1375945	37100309	160922121	12	6074											
ULK4	54986	mdanderson.org	37	chr3	41497052	41497052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcaggtcttctgcaGcctgagggtcctctcctgag	6	9	13	13	0	3	2	0	2	3	0	5	2	4	2	3	2	4	4	3	2	0	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr3:41497052G>T	ENST00000301831.4	-	34	3890	c.3428C>A	c.(3427-3429)gCt>gAt	p.A1143D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1143					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)		GTCTTCTGCAGCCTGAGGGTC	0.512																																					p.A1143D													.	.			0			c.C3428A												93	96	95					3																	41497052		1919	4138	6057	SO:0001583	missense	54986	exon34			TCTGCAGCCTGAG	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.3428C>A	3.37:g.41497052G>T	ENSP00000301831:p.Ala1143Asp		26	0	0		19	0.11	2	NM_017886	14	0	0	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012140	0.54468	.	.	ENSG00000168038	ENST00000301831	T	0.65364	-0.15	5.37	4.49	0.54785	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.44285	U	0.000474	T	0.55146	0.1902	L	0.38175	1.15	0.80722	D	1	P	0.50272	0.933	B	0.44108	0.441	T	0.56890	-0.7904	10	0.45353	T	0.12	.	13.7791	0.63073	0.0737:0.0:0.9263:0.0	.	1143	Q96C45	ULK4_HUMAN	D	1143	ENSP00000301831:A1143D	ENSP00000301831:A1143D	A	-	2	0	ULK4	41472056	1.000000	0.71417	0.901000	0.35422	0.728000	0.41692	3.304000	0.51866	1.273000	0.44346	0.655000	0.94253	GCT			0.512	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343490.1		XM_929989		T	41497052	G	T	41497052	3	4	87	1	0	0	0	0	1	0	0	0	17002	971	34	2	415	2	ULK4	3	41497052	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	4396743	41497052	156525378	13	6075											
DHX30	22907	mdanderson.org	37	chr3	47891550	47891550	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagctgcttgcgctactGgcagagctgctgcgaggacc	6	7	16	12	2	0	1	0	0	0	1	0	3	0	2	1	3	7	7	1	3	1	2			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr3:47891550G>T	ENST00000445061.1	+	22	3932	c.3525G>T	c.(3523-3525)ctG>ctT	p.L1175L	DHX30_ENST00000348968.4_Silent_p.L1147L|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Silent_p.L1203L|DHX30_ENST00000446256.2_Silent_p.L1136L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1175						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)		TTGCGCTACTGGCAGAGCTGC	0.652											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L1175L													.	.			0			c.G3525T												11	14	13					3																	47891550		2194	4294	6488	SO:0001819	synonymous_variant	22907	exon22			GCTACTGGCAGAG	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.3525G>T	3.37:g.47891550G>T			37	0	0	950	45	0.07	3	NM_138615	68	0	0	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	CCDS2759.1																																																																																					0.652	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257495.2		NM_138615		T	47891550	G	T	47891550	2	4	87	1	0	0	0	0	0	0	0	1	4509	1335	47	3		3	DHX30	3	47891550	Silent	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	6394498	47891550	150130880	14	6076											
MAGI1	9223	mdanderson.org	37	chr3	65425585	65425585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgctgctgttg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2	rs374381483		TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				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)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q413Q													.	.			0			c.G1239A												58	58	58					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223	exon9			CTGCTGCTGCTGT	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.1239G>A	3.37:g.65425585C>T			26	0	0	1084	40	0.08	3	NM_001033057	10	0	0	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC			0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000349132.2		NM_004742		T	65425585	C	T	65425585	2	4	87	1	0	0	0	0	0	0	0	1	9206	796	28	2		2	MAGI1	3	65425585	Silent	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	17534035	65425585	132596845	15	6077											
CXCL6	6372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	74702735	74702735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacttgtttacgcgttaCgctgagagtaaaccccaaaa	12	11	8	10	3	0	1	0	1	0	1	0	2	0	1	2	0	4	5	2	0	6	6			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr4:74702735C>G	ENST00000226317.5	+	2	418	c.164C>G	c.(163-165)aCg>aGg	p.T55R	CXCL6_ENST00000515050.1_Missense_Mutation_p.T55R	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	55					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)	p.T55M(2)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTACGCGTTACGCTGAGAGTA	0.527																																					p.T55R													CXCL6,NS,carcinoma,0,1	CXCL6	0	1	2	Substitution - Missense(2)	lung(2)	c.C164G												113	129	123					4																	74702735		2203	4300	6503	SO:0001583	missense	6372	exon2			GCGTTACGCTGAG	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"Endogenous ligands"	10643	protein-coding gene	gene with protein product	"granulocyte chemotactic protein 2"	138965	"small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)", "chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.164C>G	4.37:g.74702735C>G	ENSP00000226317:p.Thr55Arg		94	0	0		65	0.51	33	NM_002993	0		0	B2R4X3|Q4W5D4	Missense_Mutation	SNP	ENST00000226317.5	37	CCDS3560.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597775	0.28445	.	.	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.05258	3.47;3.47	3.86	-0.0305	0.13914	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.253070	0.40818	N	0.001004	T	0.16471	0.0396	M	0.80982	2.52	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.13019	-1.0525	10	0.26408	T	0.33	.	3.3124	0.07021	0.3526:0.4412:0.0:0.2062	.	55	P80162	CXCL6_HUMAN	R	55	ENSP00000226317:T55R;ENSP00000424819:T55R	ENSP00000226317:T55R	T	+	2	0	CXCL6	74921599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.056000	0.11787	-0.175000	0.10725	-0.224000	0.12420	ACG			0.527	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252283.2		NM_002993		G	74702735	C	G	74702735	3	3	87	1	0	0	0	0	1	0	0	0	4090	536	19	5	170	5	CXCL6	4	74702735	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10		74702735	116451541	16	6078											
PDE6A	5145	mdanderson.org	37	chr5	149265907	149265907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccatggccaaggcctctaGgtccgtgaagtagcgcttca	9	8	12	12	2	2	1	1	1	1	0	3	2	3	1	4	3	1	2	4	3	4	3			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr5:149265907G>T	ENST00000255266.5	-	14	1878	c.1759C>A	c.(1759-1761)Cta>Ata	p.L587I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	587					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AAGGCCTCTAGGTCCGTGAAG	0.542																																					p.L587I													.	.			0			c.C1759A												146	122	130					5																	149265907		2203	4300	6503	SO:0001583	missense	5145	exon14			CCTCTAGGTCCGT		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1759C>A	5.37:g.149265907G>T	ENSP00000255266:p.Leu587Ile		63	0	0		49	0.06	3	NM_000440	0		0	Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102116	0.76983	.	.	ENSG00000132915	ENST00000255266	D	0.84146	-1.81	5.73	4.85	0.62838	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000003	D	0.88890	0.6560	M	0.62723	1.935	0.49483	D	0.999796	D	0.56521	0.976	P	0.59546	0.859	D	0.87769	0.2604	10	0.37606	T	0.19	.	12.9065	0.58156	0.0797:0.0:0.9203:0.0	.	587	P16499	PDE6A_HUMAN	I	587	ENSP00000255266:L587I	ENSP00000255266:L587I	L	-	1	2	PDE6A	149246100	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.146000	0.58072	1.393000	0.46605	0.655000	0.94253	CTA			0.542	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252326.2				T	149265907	G	T	149265907	3	4	87	1	0	0	0	0	1	0	0	0	11662	991	35	3	859	3	PDE6A	5	149265907	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		149265907	31649353	17	6079											
NOL7	51406	broad.mit.edu	37	chr6	13621014	13621014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaaacaaaatgccaagagGtttaaaagacggtggatggt	19	7	11	4	1	0	2	0	0	0	2	0	3	0	3	1	4	2	1	1	4	8	2			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr6:13621014G>T	ENST00000451315.2	+	8	761	c.729G>T	c.(727-729)agG>agT	p.R243S	AL441883.1_ENST00000600057.1_Missense_Mutation_p.N36K|NOL7_ENST00000474485.1_3'UTR|RANBP9_ENST00000469916.1_5'Flank	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	243						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			ATGCCAAGAGGTTTAAAAGAC	0.249																																					p.R243S													.	NOL7	18		0			c.G729T												35	37	36					6																	13621014		2203	4289	6492	SO:0001583	missense	51406	exon8			CAAGAGGTTTAAA	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"chromosome 6 open reading frame 90", "polyglutamine binding protein 3"	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.729G>T	6.37:g.13621014G>T	ENSP00000405674:p.Arg243Ser		142	0	0		150	0.03	4	NM_016167	577	0	0	Q5T297|Q9Y3U7	Missense_Mutation	SNP	ENST00000451315.2	37	CCDS4528.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978793	0.53720	.	.	ENSG00000225921	ENST00000451315	.	.	.	6.07	2.26	0.28386	.	0.272836	0.40222	N	0.001150	T	0.13756	0.0333	N	0.24115	0.695	0.31493	N	0.665737	B	0.11235	0.004	B	0.09377	0.004	T	0.07309	-1.0779	9	0.72032	D	0.01	-3.1197	5.5567	0.17121	0.2131:0.0:0.6416:0.1453	.	243	Q9UMY1	NOL7_HUMAN	S	243	.	ENSP00000405674:R243S	R	+	3	2	NOL7	13728993	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.922000	0.28734	0.871000	0.35750	0.655000	0.94253	AGG			0.249	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039904.1		NM_016167		T	13621014	G	T	13621014	3	4	87	1	0	0	0	0	1	0	0	0	10543	1252	44	3	759	3	NOL7	6	13621014	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		13621014	157494053	18	6080											
ITPR3	3710	mdanderson.org	37	chr6	33639004	33639004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttcagcgagctgctgcgGctcactcgcacactgctggg	6	8	13	14	3	2	0	2	0	0	0	3	1	2	0	0	2	6	6	0	2	0	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr6:33639004G>A	ENST00000374316.5	+	22	3709	c.2649G>A	c.(2647-2649)cgG>cgA	p.R883R	ITPR3_ENST00000605930.1_Silent_p.R883R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	883					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AGCTGCTGCGGCTCACTCGCA	0.667																																					p.R883R													.	.			0			c.G2649A												62	63	62					6																	33639004		2203	4300	6503	SO:0001819	synonymous_variant	3710	exon21			GCTGCGGCTCACT	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2649G>A	6.37:g.33639004G>A			79	0	0		84	0.05	4	NM_002224	46	0	0	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																					0.667	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040204.2		NM_002224		A	33639004	G	A	33639004	2	1	87	1	0	0	0	0	0	0	0	1	7937	1190	42	2		2	ITPR3	6	33639004	Silent	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	20017990	33639004	137476063	19	6081											
ABCC10	89845	mdanderson.org	37	chr6	43406411	43406411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtccaagggctttggcctgGccacccaggaaccctggatc	7	8	12	14	0	0	0	0	0	0	0	2	2	1	2	5	5	1	1	5	5	2	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr6:43406411G>A	ENST00000372530.4	+	8	2220	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T	ABCC10_ENST00000244533.3_Missense_Mutation_p.A641T	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	669	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	CTTTGGCCTGGCCACCCAGGA	0.592																																					p.A669T													.	.			0			c.G2005A												101	96	98					6																	43406411		2203	4300	6503	SO:0001583	missense	89845	exon8			GGCCTGGCCACCC	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.2005G>A	6.37:g.43406411G>A	ENSP00000361608:p.Ala669Thr		100	0	0		86	0.06	5	NM_001198934	142	0	0	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810282	0.90707	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.90676	-2.71;-2.71;-2.71	5.61	5.61	0.85477	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.132335	0.49916	D	0.000128	D	0.90000	0.6878	L	0.58510	1.815	0.51482	D	0.999926	P;P	0.40794	0.729;0.659	B;P	0.45971	0.439;0.499	D	0.90438	0.4429	10	0.56958	D	0.05	-44.5866	19.6435	0.95767	0.0:0.0:1.0:0.0	.	641;669	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	T	225;669;641	ENSP00000361593:A225T;ENSP00000361608:A669T;ENSP00000244533:A641T	ENSP00000244533:A641T	A	+	1	0	ABCC10	43514389	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.799000	0.85936	2.640000	0.89533	0.655000	0.94253	GCC			0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040603.2		NM_033450		A	43406411	G	A	43406411	3	1	87	1	0	0	0	0	1	0	0	0	50	1203	42	2	1943	2	ABCC10	6	43406411	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	9767407	43406411	127708656	20	6082											
TRAM2	9697	broad.mit.edu;mdanderson.org	37	chr6	52372382	52372382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagctatatgcaccaGgtacaggcaaatatactgga	13	9	9	10	0	0	0	0	0	0	0	1	1	1	1	2	3	5	5	2	3	6	5			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr6:52372382G>T	ENST00000182527.3	-	7	594	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	199	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					ATATGCACCAGGTACAGGCAA	0.468																																					p.L199M													.	TRAM2	27		0			c.C595A												84	86	86					6																	52372382		2203	4300	6503	SO:0001583	missense	9697	exon7			GCACCAGGTACAG	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.595C>A	6.37:g.52372382G>T	ENSP00000182527:p.Leu199Met		56	0	0		74	0.05	4	NM_012288	139	0	0	A8K6T6	Missense_Mutation	SNP	ENST00000182527.3	37	CCDS34477.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631610	0.67015	.	.	ENSG00000065308	ENST00000182527	D	0.87491	-2.26	5.31	2.52	0.30459	TRAM/LAG1/CLN8 homology domain (3);	0.132339	0.52532	D	0.000066	D	0.90745	0.7095	M	0.84948	2.725	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	D	0.90833	0.4718	10	0.66056	D	0.02	.	10.0425	0.42166	0.2774:0.0:0.7226:0.0	.	199	Q15035	TRAM2_HUMAN	M	199	ENSP00000182527:L199M	ENSP00000182527:L199M	L	-	1	2	TRAM2	52480341	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.344000	0.44010	0.814000	0.34374	0.491000	0.48974	CTG			0.468	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040910.1		NM_012288		T	52372382	G	T	52372382	3	4	87	1	0	0	0	0	1	0	0	0	16477	991	35	3	537	3	TRAM2	6	52372382	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	8965971	52372382	118742685	21	6083											
AKR1B1	231	mdanderson.org	37	chr7	134135644	134135644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccttctcatggtacGtgcaccacagctaagccagc	9	7	9	16	1	1	0	1	0	1	0	2	0	1	0	4	2	5	3	4	2	2	3			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr7:134135644G>T	ENST00000285930.4	-	3	324	c.245C>A	c.(244-246)aCg>aAg	p.T82K	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	82					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	CTCATGGTACGTGCACCACAG	0.572																																					p.T82K													.	.			0			c.C245A												81	61	68					7																	134135644		2203	4300	6503	SO:0001583	missense	231	exon3			TGGTACGTGCACC	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.245C>A	7.37:g.134135644G>T	ENSP00000285930:p.Thr82Lys		49	0	0		43	0.07	3	NM_001628	212	0	0	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021761	0.93462	.	.	ENSG00000085662	ENST00000285930	T	0.23552	1.9	4.94	4.94	0.65067	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59726	-0.7400	10	0.87932	D	0	.	17.5268	0.87802	0.0:0.0:1.0:0.0	.	82	P15121	ALDR_HUMAN	K	82	ENSP00000285930:T82K	ENSP00000285930:T82K	T	-	2	0	AKR1B1	133786184	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.838000	0.86804	2.448000	0.82819	0.561000	0.74099	ACG			0.572	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339448.2		NM_001628		T	134135644	G	T	134135644	3	4	87	1	0	0	0	0	1	0	0	0	466	1145	40	1	737	1	AKR1B1	7	134135644	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		134135644	25003019	22	6084											
SLC4A2	6522	mdanderson.org	37	chr7	150772534	150772534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcacctggggacaaGcccaagattcaggaagtcaa	12	6	13	10	0	2	1	2	0	0	1	2	3	2	3	2	4	1	2	2	4	4	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr7:150772534G>T	ENST00000485713.1	+	20	4280	c.3240G>T	c.(3238-3240)aaG>aaT	p.K1080N	SLC4A2_ENST00000413384.2_Missense_Mutation_p.K1080N|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.K1066N|SLC4A2_ENST00000310317.5_Missense_Mutation_p.K998N|SLC4A2_ENST00000392826.2_Missense_Mutation_p.K1071N|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1080	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)		CTGGGGACAAGCCCAAGATTC	0.617																																					p.K1080N													.	.			0			c.G3240T												133	135	135					7																	150772534		2203	4300	6503	SO:0001583	missense	6522	exon20			GGACAAGCCCAAG		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.3240G>T	7.37:g.150772534G>T	ENSP00000419412:p.Lys1080Asn		21	0	0		18	0.11	2	NM_001199692	215	0	0	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065550	0.55539	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.07	2.28	0.28536	Bicarbonate transporter, C-terminal (1);	0.054554	0.64402	D	0.000001	D	0.89403	0.6705	M	0.91196	3.185	0.54753	D	0.999988	D;D;D	0.65815	0.995;0.99;0.992	D;D;D	0.70487	0.962;0.948;0.969	D	0.87613	0.2505	10	0.72032	D	0.01	.	7.6787	0.28500	0.333:0.0:0.667:0.0	.	1071;1066;1080	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	N	1080;1080;998;1071;1066	ENSP00000419412:K1080N;ENSP00000405600:K1080N;ENSP00000311402:K998N;ENSP00000376571:K1071N;ENSP00000419164:K1066N	ENSP00000311402:K998N	K	+	3	2	SLC4A2	150403467	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.566000	0.45948	0.310000	0.22990	-1.036000	0.02392	AAG			0.617	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000351039.1		NM_003040		T	150772534	G	T	150772534	3	4	87	1	0	0	0	0	1	0	0	0	14677	962	34	2	3314	2	SLC4A2	7	150772534	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	16636890	150772534	8366129	23	6085											
DOCK5	80005	mdanderson.org	37	chr8	25203062	25203062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagatgacaactccaacaagCctgaccacgaggcaagctcg	14	5	9	13	2	0	3	0	2	0	1	2	4	1	3	3	1	4	2	3	1	5	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr8:25203062C>T	ENST00000276440.7	+	26	2733	c.2689C>T	c.(2689-2691)Cct>Tct	p.P897S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	897					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)		CTCCAACAAGCCTGACCACGA	0.542																																					p.P897S	Pancreas(145;34 1887 3271 10937 30165)												.	.			0			c.C2689T												157	135	143					8																	25203062		2203	4300	6503	SO:0001583	missense	80005	exon26			AACAAGCCTGACC		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.2689C>T	8.37:g.25203062C>T	ENSP00000276440:p.Pro897Ser		36	0	0		64	0.06	4	NM_024940	7	0	0	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.98|15.98	2.991394|2.991394	0.54041|0.54041	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.19394	.|2.15	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.28632|0.28632	0.0709|0.0709	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.38395	.|0.478;0.161;0.629	.|B;B;B	.|0.43331	.|0.148;0.096;0.416	T|T	0.00357|0.00357	-1.1792|-1.1792	5|10	.|0.48119	.|T	.|0.1	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|887;672;897	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	V|S	668|897	.|ENSP00000276440:P897S	.|ENSP00000276440:P897S	A|P	+|+	2|1	0|0	DOCK5|DOCK5	25258979|25258979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCT			0.542	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254955.2		NM_024940		T	25203062	C	T	25203062	3	4	87	1	0	0	0	0	1	0	0	0	4695	739	26	2	2791	2	DOCK5	8	25203062	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10		25203062	121160960	24	6086											
FBXW2	26190	bcgsc.ca	37	chr9	123527003	123527003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtactctggcagaggccagCgactaatcaggctctctgtc	8	10	11	12	1	3	1	1	0	2	1	5	2	3	1	1	3	2	3	1	3	2	2			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr9:123527003C>T	ENST00000608872.1	-	8	1386	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	FBXW2_ENST00000340778.5_Missense_Mutation_p.R335H|FBXW2_ENST00000493559.1_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	400					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CAGAGGCCAGCGACTAATCAG	0.537																																					p.R400H													FBXW2_ENST00000373926,colon,carcinoma,-1,1	FBXW2	34	1	0			c.G1199A												120	121	120					9																	123527003		1977	4169	6146	SO:0001583	missense	26190	exon8			GGCCAGCGACTAA	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1199G>A	9.37:g.123527003C>T	ENSP00000476369:p.Arg400His		60	0	0		92	0.07	6	NM_012164	139	0	0	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014010	0.75161	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.18338	2.22;2.22	4.95	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049056	0.85682	N	0.000000	T	0.31104	0.0786	L	0.44542	1.39	0.58432	D	0.999995	D;B;B	0.76494	0.999;0.124;0.046	D;B;B	0.78314	0.991;0.007;0.007	T	0.01810	-1.1269	10	0.52906	T	0.07	-3.1256	11.0611	0.47948	0.0:0.9085:0.0:0.0915	.	335;400;400	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	H	400;335;400	ENSP00000363036:R400H;ENSP00000341161:R335H	ENSP00000341161:R335H	R	-	2	0	FBXW2	122566824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.247000	0.51422	1.210000	0.43336	0.563000	0.77884	CGC			0.537	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053834.2				T	123527003	C	T	123527003	3	4	87	1	0	0	0	0	1	0	0	0	5779	768	27	1	169	1	FBXW2	9	123527003	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10		123527003	17686428	25	6087											
DPP7	29952	mdanderson.org	37	chr9	140005139	140005139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccacgcagagctggctgCtgctcacgcctggctgcctt	4	8	11	18	2	1	1	1	0	0	1	1	1	1	1	4	2	4	6	4	2	0	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr9:140005139C>T	ENST00000371579.2	-	13	1444	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	480						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)		GAGCTGGCTGCTGCTCACGCC	0.647																																					p.Q480Q													.	.			0			c.G1440A												36	38	37					9																	140005139		2199	4297	6496	SO:0001819	synonymous_variant	29952	exon13			TGGCTGCTGCTCA	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.1440G>A	9.37:g.140005139C>T			21	0	0		38	0.08	3	NM_013379	51	0	0	A8K7U7|Q5VSF1|Q969X4	Silent	SNP	ENST00000371579.2	37	CCDS7030.1																																																																																					0.647	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055279.1		NM_013379		T	140005139	C	T	140005139	2	4	87	1	0	0	0	0	0	0	0	1	4736	796	28	2		2	DPP7	9	140005139	Silent	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	16478136	140005139	1208292	26	6088											
PCBD1	5092	mdanderson.org	37	chr10	72643793	72643793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacactcatgggtgctcaGcgtgatgtggacctgaaatg	9	9	14	9	1	2	2	2	2	0	0	2	3	2	3	1	3	2	2	1	3	1	0			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr10:72643793G>T	ENST00000299299.3	-	4	479	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	PCBD1_ENST00000493228.1_5'UTR	NM_000281.2	NP_000272.1	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	77					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|regulation of protein homodimerization activity (GO:0043496)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|identical protein binding (GO:0042802)|phenylalanine 4-monooxygenase activity (GO:0004505)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(1)	4						TGGGTGCTCAGCGTGATGTGG	0.527																																					p.L77M													.	.			0			c.C229A												89	73	78					10																	72643793		2203	4300	6503	SO:0001583	missense	5092	exon4			TGCTCAGCGTGAT	BC006324	CCDS31217.1	10q22	2014-04-01	2007-11-06	2005-02-11	ENSG00000166228	ENSG00000166228	4.2.1.96		8646	protein-coding gene	gene with protein product	"Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)", "pterin-4-alpha carbinolamine dehydratase", "dimerizing cofactor for HNF1"	126090	"6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)", "pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)"	DCOH, PCBD		8486378	Standard	XM_005269877		Approved	PCD	uc001jrn.1	P61457	OTTHUMG00000018417	ENST00000299299.3:c.229C>A	10.37:g.72643793G>T	ENSP00000299299:p.Leu77Met		50	0	0		47	0.06	3	NM_000281	203	0	0	P70519|P80095|Q9D930	Missense_Mutation	SNP	ENST00000299299.3	37	CCDS31217.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383544	0.42207	.	.	ENSG00000166228	ENST00000299299	D	0.92348	-3.02	5.69	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.96793	0.8953	H	0.96333	3.805	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	D	0.95745	0.8787	10	0.87932	D	0	.	8.2871	0.31935	0.3696:0.0:0.6304:0.0	.	77	P61457	PHS_HUMAN	M	77	ENSP00000299299:L77M	ENSP00000299299:L77M	L	-	1	2	PCBD1	72313799	0.999000	0.42202	0.997000	0.53966	0.224000	0.24922	2.140000	0.42159	0.741000	0.32674	0.650000	0.86243	CTG			0.527	PCBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048527.1		NM_000281		T	72643793	G	T	72643793	3	4	87	1	0	0	0	0	1	0	0	0	11515	962	34	2	89	2	PCBD1	10	72643793	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		72643793	62890954	27	6089											
EBF3	253738	mdanderson.org	37	chr10	131761739	131761739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaaattggatttccggagGttggaaggcggctgcttctc	9	11	14	7	2	1	1	0	0	1	1	3	4	2	4	1	6	1	3	1	6	3	4	rs143335830		TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr10:131761739G>T	ENST00000355311.5	-	2	255	c.183C>A	c.(181-183)aaC>aaA	p.N61K	EBF3_ENST00000368648.3_Missense_Mutation_p.N61K			Q9H4W6	COE3_HUMAN	early B-cell factor 3	61					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)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATTTCCGGAGGTTGGAAGGCG	0.652																																					p.N61K													.	.			0			c.C183A												46	51	49					10																	131761739		2203	4300	6503	SO:0001583	missense	253738	exon2			CCGGAGGTTGGAA		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.183C>A	10.37:g.131761739G>T	ENSP00000347463:p.Asn61Lys		51	0	0		41	0.07	3	NM_001005463	0		0	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37		.	.	.	.	.	.	.	.	.	.	G	19.37	3.815238	0.70912	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.58210	0.35;0.39	3.27	0.794	0.18638	.	0.000000	0.85682	U	0.000000	T	0.66626	0.2808	M	0.87682	2.9	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61328	0.882;0.887	T	0.65689	-0.6107	10	0.87932	D	0	-10.3465	5.45	0.16560	0.5259:0.0:0.474:0.0	.	61;61	Q9H4W6;Q9H4W6-2	COE3_HUMAN;.	K	61	ENSP00000347463:N61K;ENSP00000357637:N61K	ENSP00000347463:N61K	N	-	3	2	EBF3	131651729	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.402000	0.44521	0.329000	0.23460	0.205000	0.17691	AAC			0.652	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000051015.2		NM_001005463		T	131761739	G	T	131761739	3	4	87	1	0	0	0	0	1	0	0	0	4887	1252	44	3	1532	3	EBF3	10	131761739	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	59117946	131761739	3773008	28	6090											
TCERG1L	256536	mdanderson.org	37	chr10	133058643	133058643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacggagaccatggcagcGgcggcggcggtggcgatggc	6	4	19	12	6	0	1	0	0	0	1	1	3	1	1	2	8	1	1	2	8	0	0			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr10:133058643G>A	ENST00000368642.4	-	4	820	c.735C>T	c.(733-735)gcC>gcT	p.A245A		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	245	Poly-Ala.									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)		CCATggcagcggcggcggcgg	0.667																																					p.A245A													.	.			0			c.C735T												17	19	18					10																	133058643		2197	4292	6489	SO:0001819	synonymous_variant	256536	exon4			GGCAGCGGCGGCG	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.735C>T	10.37:g.133058643G>A			19	0	0		41	0.07	3	NM_174937	88	0	0	Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	CCDS7662.2																																																																																					0.667	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091619.2		NM_174937		A	133058643	G	A	133058643	2	1	87	1	0	0	0	0	0	0	0	1	15709	1103	39	1		1	TCERG1L	10	133058643	Silent	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	1296904	133058643	2476104	29	6091											
FAM111B	374393	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	58892877	58892877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaattcaacatatataaaaAggacttcggaaaaatgactg	19	9	7	6	1	1	1	1	1	0	0	2	3	1	3	0	2	1	1	0	2	9	5			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr11:58892877A>G	ENST00000343597.3	+	4	1498	c.1307A>G	c.(1306-1308)aAg>aGg	p.K436R	FAM111B_ENST00000411426.1_Missense_Mutation_p.K406R|FAM111B_ENST00000529618.1_Missense_Mutation_p.K406R	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	436							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						ATATATAAAAAGGACTTCGGA	0.368																																					p.K436R													.	.			0			c.A1307G												83	88	86					11																	58892877		2200	4295	6495	SO:0001583	missense	374393	exon4			ATAAAAAGGACTT	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.1307A>G	11.37:g.58892877A>G	ENSP00000341565:p.Lys436Arg		84	0	0		71	0.07	5	NM_198947	3	0	0	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	A	8.427	0.847646	0.17034	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.33438	1.41;1.41;1.41	4.63	0.648	0.17801	Peptidase cysteine/serine, trypsin-like (1);	1.111380	0.06888	N	0.803659	T	0.23492	0.0568	L	0.29908	0.895	0.09310	N	1	P	0.43750	0.816	B	0.42282	0.382	T	0.18524	-1.0334	10	0.12430	T	0.62	.	10.5126	0.44870	0.5204:0.4796:0.0:0.0	.	436	Q6SJ93	F111B_HUMAN	R	406;406;436	ENSP00000393855:K406R;ENSP00000432875:K406R;ENSP00000341565:K436R	ENSP00000341565:K436R	K	+	2	0	FAM111B	58649453	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	1.100000	0.31025	-0.047000	0.13423	0.533000	0.62120	AAG			0.368	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393974.1		NM_198947		G	58892877	A	G	58892877	3	3	87	1	0	0	0	0	1	0	0	0	5410	72	3	4	1313	4	FAM111B	11	58892877	Missense_Mutation	SNP	A	TCGA-S6-A8JX-01A-11D-A435-10		58892877	76113639	30	6092											
NUDT22	84304	mdanderson.org	37	chr11	63995082	63995082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcaccaggacctcgctGggcagctggtggtacatgaa	9	6	13	13	1	0	1	0	1	0	0	1	2	0	2	3	4	3	5	3	4	2	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr11:63995082G>T	ENST00000279206.3	+	3	679	c.523G>T	c.(523-525)Ggg>Tgg	p.G175W	TRPT1_ENST00000541278.1_5'Flank|TRPT1_ENST00000546133.1_5'Flank|DNAJC4_ENST00000321685.3_5'Flank|TRPT1_ENST00000317459.6_5'Flank|DNAJC4_ENST00000355040.4_5'Flank|NUDT22_ENST00000441250.2_Intron|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000394546.2_5'Flank|TRPT1_ENST00000546089.1_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|TRPT1_ENST00000394547.3_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	175	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GGACCTCGCTGGGCAGCTGGT	0.617																																					p.G175W													.	.			0			c.G523T												93	86	88					11																	63995082		2201	4297	6498	SO:0001583	missense	84304	exon3			CTCGCTGGGCAGC	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"Nudix motif containing"	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.523G>T	11.37:g.63995082G>T	ENSP00000279206:p.Gly175Trp		81	0	0		48	0.06	3	NM_001128612	20	0	0	C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657940	0.29425	.	.	ENSG00000149761	ENST00000279206;ENST00000428347	T;T	0.33654	2.23;1.4	3.97	3.02	0.34903	NUDIX hydrolase domain (1);	0.805140	0.11645	N	0.543392	T	0.49012	0.1532	L	0.47716	1.5	0.30770	N	0.743158	D	0.69078	0.997	D	0.64144	0.922	T	0.49799	-0.8901	10	0.66056	D	0.02	-11.7532	10.2208	0.43196	0.0:0.0:0.8006:0.1994	.	175	Q9BRQ3	NUD22_HUMAN	W	175;206	ENSP00000279206:G175W;ENSP00000401085:G206W	ENSP00000279206:G175W	G	+	1	0	NUDT22	63751658	.	.	0.892000	0.35008	0.034000	0.12701	.	.	0.971000	0.38288	0.462000	0.41574	GGG			0.617	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396304.2		NM_032344		T	63995082	G	T	63995082	3	4	87	1	0	0	0	0	1	0	0	0	10756	1348	47	3	529	3	NUDT22	11	63995082	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	5102205	63995082	71011434	31	6093											
DPP3	10072	mdanderson.org	37	chr11	66272124	66272124	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggccggagggcgggccctGtacgaggggtatgcaacagt	7	6	19	9	3	0	0	0	0	0	0	0	2	0	1	2	6	3	3	2	6	3	2			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr11:66272124G>T	ENST00000360510.2	+	17	1985	c.1920G>T	c.(1918-1920)ctG>ctT	p.L640L	DPP3_ENST00000531863.1_Silent_p.L660L|DPP3_ENST00000453114.1_Silent_p.L640L|DPP3_ENST00000541961.1_Silent_p.L640L|DPP3_ENST00000532677.1_Silent_p.L659L|DPP3_ENST00000530165.1_Silent_p.L610L			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	640					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						GGCGGGCCCTGTACGAGGGGT	0.597																																					p.L640L													.	.			0			c.G1920T												97	86	90					11																	66272124		2200	4295	6495	SO:0001819	synonymous_variant	10072	exon17			GGCCCTGTACGAG	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.1920G>T	11.37:g.66272124G>T			51	0	0		39	0.08	3	NM_005700	81	0	0	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	CCDS8141.1																																																																																					0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393424.2				T	66272124	G	T	66272124	2	4	87	1	0	0	0	0	0	0	0	1	4733	1364	48	3		3	DPP3	11	66272124	Silent	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	2277042	66272124	68734392	32	6094											
CCDC87	55231	mdanderson.org	37	chr11	66360429	66360429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggaagagcgacagcggacGcagcagccggtggtaaaacc	12	2	17	10	4	0	1	0	0	0	1	0	4	0	3	2	5	5	3	2	5	3	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr11:66360429G>T	ENST00000333861.3	-	1	125	c.58C>A	c.(58-60)Cgt>Agt	p.R20S	CCS_ENST00000533244.1_5'UTR|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	20					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GACAGCGGACGCAGCAGCCGG	0.677											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R20S													.	.			0			c.C58A												10	13	12					11																	66360429		1951	3868	5819	SO:0001583	missense	55231	exon1			GCGGACGCAGCAG	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.58C>A	11.37:g.66360429G>T	ENSP00000328487:p.Arg20Ser		42	0	0	1091	45	0.07	3	NM_018219	26	0	0	Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039506	0.19669	.	.	ENSG00000182791	ENST00000333861	T	0.28666	1.6	5.39	2.26	0.28386	.	1.162730	0.06525	N	0.740289	T	0.13543	0.0328	N	0.12746	0.255	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.41360	-0.9513	10	0.06365	T	0.9	0.3761	2.1564	0.03814	0.1131:0.1443:0.4689:0.2738	.	20	Q9NVE4	CCD87_HUMAN	S	20	ENSP00000328487:R20S	ENSP00000328487:R20S	R	-	1	0	CCDC87	66117005	0.954000	0.32549	0.974000	0.42286	0.385000	0.30292	0.434000	0.21494	0.271000	0.22005	0.655000	0.94253	CGT			0.677	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393825.1		NM_018219		T	66360429	G	T	66360429	3	4	87	1	0	0	0	0	1	0	0	0	2864	1087	38	1	2495	1	CCDC87	11	66360429	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	88305	66360429	68646087	33	6095											
CCDC89	220388	mdanderson.org	37	chr11	85397036	85397036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggaggtttgccaaggcttcCctcagaccgtccagttcctt	6	11	10	14	2	1	1	1	0	0	1	4	2	4	2	5	3	1	3	5	3	1	4			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr11:85397036C>A	ENST00000316398.3	-	1	284	c.138G>T	c.(136-138)agG>agT	p.R46S		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	46						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)				CCAAGGCTTCCCTCAGACCGT	0.552																																					p.R46S													CCDC89,NS,carcinoma,-1,1	CCDC89	-1	1	0			c.G138T												82	73	76					11																	85397036		2203	4299	6502	SO:0001583	missense	220388	exon1			GGCTTCCCTCAGA	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.138G>T	11.37:g.85397036C>A	ENSP00000320649:p.Arg46Ser		125	0	0		50	0.06	3	NM_152723	0		0		Missense_Mutation	SNP	ENST00000316398.3	37	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104744	0.20632	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.72	-0.183	0.13284	.	0.709406	0.13009	N	0.421017	T	0.33614	0.0869	M	0.68317	2.08	0.09310	N	0.999993	B	0.26547	0.152	B	0.25140	0.058	T	0.26258	-1.0108	8	.	.	.	-7.2244	2.9501	0.05859	0.1148:0.4221:0.1133:0.3499	.	46	Q8N998	CCD89_HUMAN	S	46	.	.	R	-	3	2	CCDC89	85074684	0.114000	0.22134	0.913000	0.36048	0.308000	0.27856	0.034000	0.13776	0.053000	0.16036	-0.137000	0.14449	AGG			0.552	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392182.1		NM_152723		A	85397036	C	A	85397036	3	1	87	1	0	0	0	0	1	0	0	0	2868	622	22	3	990	3	CCDC89	11	85397036	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	19036607	85397036	49609480	34	6096											
BCO2	83875	mdanderson.org	37	chr11	112071399	112071399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgaacctgtggaaaattgCcacttctaaaattcggggaa	14	10	10	7	1	1	1	0	1	1	0	2	4	1	3	2	3	2	0	2	3	6	4			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr11:112071399C>T	ENST00000357685.5	+	7	1064	c.929C>T	c.(928-930)gCc>gTc	p.A310V	BCO2_ENST00000531169.1_Missense_Mutation_p.A276V|BCO2_ENST00000438022.1_Missense_Mutation_p.A276V|BCO2_ENST00000361053.4_Missense_Mutation_p.A237V|BCO2_ENST00000526088.1_Missense_Mutation_p.A276V|BCO2_ENST00000393032.2_Missense_Mutation_p.A276V|BCO2_ENST00000532593.1_Missense_Mutation_p.A205V			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	310					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TGGAAAATTGCCACTTCTAAA	0.403																																					p.A310V	GBM(177;1916 2099 21049 29541 39946)												.	.			0			c.C929T												97	100	99					11																	112071399		2201	4297	6498	SO:0001583	missense	83875	exon7			AAATTGCCACTTC	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.929C>T	11.37:g.112071399C>T	ENSP00000350314:p.Ala310Val		77	0.012987013	1		41	0.07	3	NM_031938	2	0	0	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	C	7.862	0.726270	0.15439	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.54	2.02	0.26589	.	0.806329	0.12069	N	0.502412	D	0.82351	0.5018	N	0.01789	-0.72	0.21290	N	0.999737	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.11329	0.004;0.001;0.004;0.006	T	0.68622	-0.5360	10	0.13853	T	0.58	-29.2677	9.2958	0.37815	0.0:0.1876:0.0:0.8124	.	287;237;310;137	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7	.;.;BCDO2_HUMAN;.	V	310;276;237;276;276;205;276	ENSP00000350314:A310V;ENSP00000376752:A276V;ENSP00000354338:A237V;ENSP00000414843:A276V;ENSP00000436615:A276V;ENSP00000431802:A205V;ENSP00000437053:A276V	ENSP00000350314:A310V	A	+	2	0	BCO2	111576609	1.000000	0.71417	0.391000	0.26233	0.984000	0.73092	3.593000	0.54001	0.101000	0.17610	-0.237000	0.12165	GCC			0.403	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256570.3		NM_001037290		T	112071399	C	T	112071399	3	4	87	1	0	0	0	0	1	0	0	0	1385	739	26	2	955	2	BCO2	11	112071399	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	26674363	112071399	22935117	35	6097											
APOA5	116519	mdanderson.org	37	chr11	116661290	116661290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggcgcgcggggctggCgggggcgtgcggagccacac	5	3	21	12	6	0	1	0	1	0	0	0	2	0	2	1	7	2	1	1	7	0	0	rs71469115		TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr11:116661290C>T	ENST00000227665.4	-	3	689	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	APOA5_ENST00000542499.1_Missense_Mutation_p.A219T|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	219					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCGGGGCTGGCGGGGGCGTGC	0.692																																					p.A219T													.	.			0			c.G655A												10	12	11					11																	116661290		2076	4066	6142	SO:0001583	missense	116519	exon4			GGCTGGCGGGGGC	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.655G>A	11.37:g.116661290C>T	ENSP00000227665:p.Ala219Thr		26	0	0		10	0.2	2	NM_052968	0		0	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216777	0.22373	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.74209	-0.82;-0.82	4.64	2.61	0.31194	Apolipoprotein/apolipophorin (1);	0.465755	0.18233	N	0.147482	T	0.60327	0.2260	L	0.45228	1.405	0.19575	N	0.999962	B;B	0.28178	0.202;0.106	B;B	0.19946	0.027;0.02	T	0.42032	-0.9475	10	0.15499	T	0.54	-5.9054	9.4261	0.38581	0.0:0.8026:0.0:0.1974	.	216;219	B0YIW1;Q6Q788	.;APOA5_HUMAN	T	219	ENSP00000227665:A219T;ENSP00000445002:A219T	ENSP00000227665:A219T	A	-	1	0	APOA5	116166500	0.958000	0.32768	0.748000	0.31131	0.243000	0.25628	3.168000	0.50801	1.168000	0.42723	0.650000	0.86243	GCC			0.692	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106285.2				T	116661290	C	T	116661290	3	4	87	1	0	0	0	0	1	0	0	0	784	768	27	1	449	1	APOA5	11	116661290	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	4589891	116661290	18345226	36	6098											
STT3A	3703	mdanderson.org	37	chr11	125484020	125484020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggattatggctatcaGattacagctatggcaaaccg	11	11	12	7	1	1	1	1	0	0	1	1	2	1	2	1	4	3	3	1	4	5	4	rs113399395		TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr11:125484020G>T	ENST00000529196.1	+	15	1799	c.1593G>T	c.(1591-1593)caG>caT	p.Q531H	STT3A_ENST00000531491.1_Missense_Mutation_p.Q439H|STT3A_ENST00000392708.4_Missense_Mutation_p.Q531H			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	531					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)		ATGGCTATCAGATTACAGCTA	0.388																																					p.Q531H													.	.			0			c.G1593T												209	190	196					11																	125484020		2201	4299	6500	SO:0001583	missense	3703	exon14			CTATCAGATTACA	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.1593G>T	11.37:g.125484020G>T	ENSP00000436962:p.Gln531His		113	0	0		40	0.08	3	NM_152713	91	0	0	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621234	0.87460	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	D;D;D	0.90563	-2.69;-2.69;-2.69	5.94	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97866	1.0283	10	0.87932	D	0	-22.8942	13.9208	0.63930	0.0743:0.0:0.9257:0.0	.	439;531	B4DJ24;P46977	.;STT3A_HUMAN	H	531;531;439	ENSP00000376472:Q531H;ENSP00000436962:Q531H;ENSP00000432820:Q439H	ENSP00000376472:Q531H	Q	+	3	2	STT3A	124989230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.855000	0.62925	1.494000	0.48533	0.650000	0.86243	CAG			0.388	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000386691.1		NM_152713		T	125484020	G	T	125484020	3	4	87	1	0	0	0	0	1	0	0	0	15356	933	33	3	1643	3	STT3A	11	125484020	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	8822730	125484020	9522496	37	6099											
ACVR1B	91	mdanderson.org	37	chr12	52369070	52369070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgtgtgcgtgcaccaGctgcctccaggccaactaca	7	9	10	15	1	1	0	0	0	1	0	2	0	2	0	4	1	7	3	4	1	2	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr12:52369070G>A	ENST00000257963.4	+	2	190	c.113G>A	c.(112-114)aGc>aAc	p.S38N	ACVR1B_ENST00000542485.1_De_novo_Start_OutOfFrame|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S38N|ACVR1B_ENST00000541224.1_Missense_Mutation_p.S38N|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S38N	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	38					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCGTGCACCAGCTGCCTCCAG	0.512																																					p.S38N													.	.			0			c.G113A												82	73	76					12																	52369070		2203	4300	6503	SO:0001583	missense	91	exon2			GCACCAGCTGCCT		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.113G>A	12.37:g.52369070G>A	ENSP00000257963:p.Ser38Asn		34	0	0		47	0.06	3	NM_004302	245	0	0	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	9.780	1.175050	0.21704	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	4.76	2.93	0.34026	TGF-beta receptor/activin receptor, type I/II (1);	0.270332	0.41396	N	0.000892	D	0.86736	0.6004	N	0.01576	-0.805	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.002;0.002;0.003	T	0.77859	-0.2431	10	0.16420	T	0.52	.	6.7354	0.23407	0.4163:0.0:0.5837:0.0	.	38;38;38;38	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	N	38	ENSP00000257963:S38N;ENSP00000442656:S38N;ENSP00000390477:S38N;ENSP00000397550:S38N	ENSP00000257963:S38N	S	+	2	0	ACVR1B	50655337	0.107000	0.21998	1.000000	0.80357	0.992000	0.81027	0.340000	0.19892	0.694000	0.31654	-0.143000	0.13931	AGC			0.512	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397000.1		NM_020328		A	52369070	G	A	52369070	3	1	87	1	0	0	0	0	1	0	0	0	221	971	34	2	119	2	ACVR1B	12	52369070	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		52369070	81482825	38	6100											
HOXC11	3227	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	54367505	54367505	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcgacaacgcctactgCggtggcggcgacccgcccgc	5	7	12	17	7	1	0	0	0	1	0	2	2	1	0	3	3	3	0	3	3	2	3			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr12:54367505C>T	ENST00000546378.1	+	1	596	c.480C>T	c.(478-480)tgC>tgT	p.C160C	HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Silent_p.C160C|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	160					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						ACGCCTACTGCGGTGGCGGCG	0.721			T	NUP98	AML																																p.C160C				Dom	yes		12	12q13.3	3227	homeo box C11		L	.	HOXC11	32		0			c.C480T												22	29	27					12																	54367505		2202	4295	6497	SO:0001819	synonymous_variant	3227	exon1			CTACTGCGGTGGC		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.480C>T	12.37:g.54367505C>T			94	0.0106382979	1		183	0.21	39	NM_014212	0		0	A8K7D1|Q96DH2	Silent	SNP	ENST00000546378.1	37	CCDS8867.1																																																																																					0.721	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358869.2				T	54367505	C	T	54367505	2	4	87	1	0	0	0	0	0	0	0	1	7325	776	27	1		1	HOXC11	12	54367505	Silent	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	1998435	54367505	79484390	39	6101											
EP400	57634	broad.mit.edu;mdanderson.org	37	chr12	132551433	132551433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtccgtcccggcagctgtgGtctcctcaccgggagtcacc	4	9	12	16	3	3	0	2	0	1	0	6	1	5	1	5	3	1	2	5	3	0	0			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr12:132551433G>T	ENST00000333577.4	+	50	8885	c.8776G>T	c.(8776-8778)Gtc>Ttc	p.V2926F	EP400_ENST00000389561.2_Missense_Mutation_p.V2890F|EP400_ENST00000389562.2_Missense_Mutation_p.V2889F|EP400_ENST00000332482.4_Missense_Mutation_p.V2853F|EP400_ENST00000330386.6_Missense_Mutation_p.V2809F			Q96L91	EP400_HUMAN	E1A binding protein p400	2926					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCAGCTGTGGTCTCCTCACC	0.687																																					p.V2890F													.	EP400	370		0			c.G8668T												34	35	35					12																	132551433		2203	4299	6502	SO:0001583	missense	57634	exon49			GCTGTGGTCTCCT	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8776G>T	12.37:g.132551433G>T	ENSP00000333602:p.Val2926Phe		58	0	0		82	0.06	5	NM_015409	150	0	0	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	15.49	2.847601	0.51164	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.93547	-3.24;-3.24;-3.16;-3.17;-3.19	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.94706	0.8292	L	0.32530	0.975	0.48696	D	0.999697	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.87578	0.979;0.998;0.998;0.998	D	0.95556	0.8625	10	0.66056	D	0.02	.	17.9511	0.89053	0.0:0.0:1.0:0.0	.	2926;2890;2809;2889	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	F	2926;2890;2889;2853;2809;2890	ENSP00000333602:V2926F;ENSP00000374212:V2890F;ENSP00000374213:V2889F;ENSP00000331737:V2853F;ENSP00000330620:V2809F	ENSP00000330620:V2809F	V	+	1	0	EP400	131117386	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	9.476000	0.97823	2.244000	0.73946	0.561000	0.74099	GTC			0.687	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015409		T	132551433	G	T	132551433	3	4	87	1	0	0	0	0	1	0	0	0	5156	1261	44	3	8855	3	EP400	12	132551433	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	78183928	132551433	1300462	40	6102											
PROZ	8858	mdanderson.org	37	chr13	113826050	113826050	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgcccaggtgcggggctCcccgtgtgcacccctgagaa	6	6	14	15	2	0	1	0	1	0	1	1	2	1	1	5	3	3	2	5	3	1	0			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr13:113826050C>A	ENST00000375547.2	+	8	841	c.834C>A	c.(832-834)ctC>ctA	p.L278L	PROZ_ENST00000342783.4_Silent_p.L300L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	278	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|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 vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	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_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GTGCGGGGCTCCCCGTGTGCA	0.662																																					p.L300L													.	.			0			c.C900A												69	68	68					13																	113826050		2203	4300	6503	SO:0001819	synonymous_variant	8858	exon9			GGGGCTCCCCGTG	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.834C>A	13.37:g.113826050C>A			36	0	0		37	0.08	3	NM_001256134	8	0	0	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Silent	SNP	ENST00000375547.2	37	CCDS9531.1																																																																																					0.662	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000045845.1		NM_003891		A	113826050	C	A	113826050	2	1	87	1	0	0	0	0	0	0	0	1	12582	842	30	3		3	PROZ	13	113826050	Silent	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10		113826050	1343828	41	6103											
SPG7	6687	mdanderson.org	37	chr16	89616973	89616973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcatgagtcgggccacGccttggtgggctggatgctg	4	11	16	10	3	1	1	1	1	0	0	2	2	1	2	2	4	1	3	2	4	0	2			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr16:89616973G>T	ENST00000268704.2	+	13	1750	c.1735G>T	c.(1735-1737)Gcc>Tcc	p.A579S		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	579					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GTCGGGCCACGCCTTGGTGGG	0.597																																					p.A579S													.	.			0			c.G1735T												103	97	99					16																	89616973		2198	4300	6498	SO:0001583	missense	6687	exon13			GGCCACGCCTTGG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1735G>T	16.37:g.89616973G>T	ENSP00000268704:p.Ala579Ser		47	0	0		55	0.05	3	NM_003119	290	0	0	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861083	0.71949	.	.	ENSG00000197912	ENST00000268704	D	0.89617	-2.54	5.84	5.84	0.93424	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.091222	0.85682	D	0.000000	D	0.96759	0.8942	H	0.96604	3.85	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	D	0.97448	1.0026	10	0.87932	D	0	-1.1864	20.1278	0.97990	0.0:0.0:1.0:0.0	.	579	Q9UQ90	SPG7_HUMAN	S	579	ENSP00000268704:A579S	ENSP00000268704:A579S	A	+	1	0	SPG7	88144474	1.000000	0.71417	0.251000	0.24312	0.267000	0.26476	7.646000	0.83445	2.768000	0.95171	0.561000	0.74099	GCC			0.597	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269921.2		NM_003119		T	89616973	G	T	89616973	3	4	87	1	0	0	0	0	1	0	0	0	15067	1087	38	1	1935	1	SPG7	16	89616973	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		89616973	737780	42	6104											
FGF11	2256	mdanderson.org	37	chr17	7343090	7343090	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctgctgtccaaggtgCgactgtgcggggggcggccc	4	8	16	13	3	1	0	1	0	0	0	3	1	3	0	3	5	3	1	3	5	1	0			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr17:7343090C>T	ENST00000293829.4	+	1	745	c.151C>T	c.(151-153)Cga>Tga	p.R51*	RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575398.1_5'Flank|FGF11_ENST00000575082.1_5'Flank|FGF11_ENST00000575235.1_Intron|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000572907.1_5'Flank|RP11-104H15.9_ENST00000570444.1_RNA	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	51					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				GTCCAAGGTGCGACTGTgcgg	0.746																																					p.R51X													.	.			0			c.C151T												6	7	7					17																	7343090		2138	4184	6322	SO:0001587	stop_gained	2256	exon1			AAGGTGCGACTGT		CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 3"	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.151C>T	17.37:g.7343090C>T	ENSP00000293829:p.Arg51*		32	0	0		28	0.11	3	NM_004112	0		0	Q2YDX8	Nonsense_Mutation	SNP	ENST00000293829.4	37	CCDS11105.1	.	.	.	.	.	.	.	.	.	.	C	42	9.579851	0.99210	.	.	ENSG00000161958	ENST00000293829	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2583	0.66067	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000293829:R51X	R	+	1	2	FGF11	7283814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.695000	0.47043	2.426000	0.82243	0.478000	0.44815	CGA			0.746	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226939.3		NM_004112		T	7343090	C	T	7343090	4	4	87	1	0	0	0	0	0	1	0	0	5853	760	27	1	153	1	FGF11	17	7343090	Nonsense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10		7343090	73852120	43	6105											
SOCS7	30837	broad.mit.edu	37	chr17	36508345	36508345	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggcggggccgggggTcaagacagtcggtgggggtt	5	5	22	9	4	1	1	1	0	0	1	2	1	1	1	2	8	1	2	2	8	1	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr17:36508345T>G	ENST00000577233.1	+	1	218	c.218T>G	c.(217-219)gTc>gGc	p.V73G	SOCS7_ENST00000331159.5_Missense_Mutation_p.V73G	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	73					fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GGGCCGGGGGTCAAGACAGTC	0.781																																					p.V73G													.	SOCS7	22		0			c.T218G												2	3	3					17																	36508345		1251	2531	3782	SO:0001583	missense	30837	exon1			CGGGGGTCAAGAC	AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	29846	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.218T>G	17.37:g.36508345T>G	ENSP00000464034:p.Val73Gly		29	0.1379310345	4		29	0.1	3	NM_014598	13	0	0	A2VCU2|Q0IJ63	Missense_Mutation	SNP	ENST00000577233.1	37	CCDS32637.1	.	.	.	.	.	.	.	.	.	.	-	9.091	1.001616	0.19121	.	.	ENSG00000174111	ENST00000331159	T	0.46063	0.88	3.4	1.17	0.20885	.	0.660835	0.12477	N	0.465489	T	0.20251	0.0487	N	0.08118	0	0.26653	N	0.97207	B	0.02656	0.0	B	0.01281	0.0	T	0.16897	-1.0387	10	0.72032	D	0.01	-4.8889	4.5822	0.12264	0.0:0.2878:0.0:0.7122	.	73	O14512	SOCS7_HUMAN	G	73	ENSP00000330659:V73G	ENSP00000330659:V73G	V	+	2	0	SOCS7	33761871	0.001000	0.12720	0.972000	0.41901	0.845000	0.48019	0.114000	0.15520	0.494000	0.27859	0.330000	0.21533	GTC			0.781	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440486.4		XM_371052		G	36508345	T	G	36508345	3	3	87	1	0	0	0	0	1	0	0	0	14942	1667	58	4	220	4	SOCS7	17	36508345	Missense_Mutation	SNP	T	TCGA-S6-A8JX-01A-11D-A435-10	29165255	36508345	44686865	44	6106											
MLX	6945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40720884	40720884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagtgattaccaccaggagGcctacaaggagtcctacaaa	15	6	9	11	0	0	1	0	1	0	0	1	3	1	3	4	3	3	0	4	3	5	3			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr17:40720884G>T	ENST00000246912.4	+	4	414	c.361G>T	c.(361-363)Gcc>Tcc	p.A121S	MLX_ENST00000435881.2_Missense_Mutation_p.A67S|MLX_ENST00000346833.4_Missense_Mutation_p.A37S	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	121					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CCACCAGGAGGCCTACAAGGA	0.612																																					p.A121S	GBM(121;657 1601 4665 24731 34640)												.	.			0			c.G361T												37	32	34					17																	40720884		2203	4300	6503	SO:0001583	missense	6945	exon4			CAGGAGGCCTACA	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.361G>T	17.37:g.40720884G>T	ENSP00000246912:p.Ala121Ser		112	0	0		80	0.23	18	NM_170607	133	0.38	51	A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	G	4.681	0.126706	0.08931	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	T;T;T	0.78595	-1.06;-1.19;-1.0	5.53	3.27	0.37495	.	0.287715	0.37669	N	0.001998	T	0.49898	0.1584	N	0.14661	0.345	0.27825	N	0.941642	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.37934	-0.9684	10	0.05351	T	0.99	-14.8344	2.1099	0.03700	0.2392:0.0823:0.14:0.5384	.	37;121;67	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	S	37;121;67	ENSP00000320913:A37S;ENSP00000246912:A121S;ENSP00000416627:A67S	ENSP00000246912:A121S	A	+	1	0	MLX	37974410	0.681000	0.27614	1.000000	0.80357	0.995000	0.86356	0.255000	0.18333	1.123000	0.41961	-0.262000	0.10625	GCC			0.612	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000450415.1		NM_170607		T	40720884	G	T	40720884	3	4	87	1	0	0	0	0	1	0	0	0	9651	1203	42	2	375	2	MLX	17	40720884	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	4212539	40720884	40474326	45	6107											
CA10	56934	mdanderson.org	37	chr17	49726574	49726574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcttgtgatagtatctctGttgagcattcgattaagaaa	12	16	8	5	1	2	3	0	2	2	1	4	4	2	3	0	0	1	3	0	0	4	7			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr17:49726574G>T	ENST00000285273.4	-	7	1714	c.603C>A	c.(601-603)aaC>aaA	p.N201K	CA10_ENST00000340813.6_Missense_Mutation_p.N207K|CA10_ENST00000451037.2_Missense_Mutation_p.N201K|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Missense_Mutation_p.N126K|CA10_ENST00000442502.2_Missense_Mutation_p.N201K	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	201					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TAGTATCTCTGTTGAGCATTC	0.388																																					p.N201K													.	.			0			c.C603A												126	131	129					17																	49726574		2203	4300	6503	SO:0001583	missense	56934	exon6			ATCTCTGTTGAGC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.603C>A	17.37:g.49726574G>T	ENSP00000285273:p.Asn201Lys		63	0	0		43	0.07	3	NM_020178	0		0	B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155415	0.57259	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.37	5.37	0.77165	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	L	0.47716	1.5	0.80722	D	1	P;P;B	0.41673	0.759;0.759;0.257	P;P;B	0.47299	0.543;0.543;0.158	T	0.68315	-0.5441	10	0.40728	T	0.16	.	18.0905	0.89474	0.0:0.0:1.0:0.0	.	201;207;126	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	K	201;201;201;207	ENSP00000390666:N201K;ENSP00000285273:N201K;ENSP00000405388:N201K;ENSP00000340363:N207K	ENSP00000285273:N201K	N	-	3	2	CA10	47081573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.035000	0.93752	2.494000	0.84150	0.591000	0.81541	AAC			0.388	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000437480.1		NM_020178		T	49726574	G	T	49726574	3	4	87	1	0	0	0	0	1	0	0	0	2513	1368	48	3	399	3	CA10	17	49726574	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	9005690	49726574	31468636	46	6108											
C17orf64	124773	mdanderson.org	37	chr17	58503678	58503678	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcattactgccaagcctggGaaatcaaacactggagaaag	16	6	10	9	0	1	1	1	0	0	1	1	3	1	2	2	2	5	1	2	2	5	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr17:58503678G>T	ENST00000269127.4	+	3	394	c.310G>T	c.(310-312)Gaa>Taa	p.E104*		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	104										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CCAAGCCTGGGAAATCAAACA	0.517																																					p.E104X													.	.			0			c.G310T												128	117	121					17																	58503678		692	1591	2283	SO:0001587	stop_gained	124773	exon3			GCCTGGGAAATCA	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.310G>T	17.37:g.58503678G>T	ENSP00000269127:p.Glu104*		53	0	0		45	0.07	3	NM_181707	0		0	Q8IY87	Nonsense_Mutation	SNP	ENST00000269127.4	37	CCDS32698.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655860	0.88056	.	.	ENSG00000141371	ENST00000428000;ENST00000269127	.	.	.	5.49	5.49	0.81192	.	0.097133	0.45126	D	0.000387	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-17.5771	16.2979	0.82784	0.0:0.0:1.0:0.0	.	.	.	.	X	98;104	.	ENSP00000269127:E104X	E	+	1	0	C17orf64	55858460	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.126000	0.71635	2.591000	0.87537	0.655000	0.94253	GAA			0.517	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000347743.1		NM_181707		T	58503678	G	T	58503678	4	4	87	1	0	0	0	0	0	1	0	0	1874	1175	41	3	320	3	C17orf64	17	58503678	Nonsense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	8777104	58503678	22691532	47	6109											
KCNH6	81033	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	61619790	61619790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtcaccttcaacctgCgggacgtgagtcagggccag	8	7	15	11	2	3	1	3	1	0	0	3	3	3	3	3	4	2	0	3	4	1	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr17:61619790C>T	ENST00000583023.1	+	9	2154	c.2143C>T	c.(2143-2145)Cgg>Tgg	p.R715W	KCNH6_ENST00000581784.1_Missense_Mutation_p.R662W|KCNH6_ENST00000456941.2_Missense_Mutation_p.R662W|KCNH6_ENST00000314672.5_Missense_Mutation_p.R715W	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	715					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTTCAACCTGCGGGACGTGAG	0.622																																					p.R715W													.	KCNH6	122		0			c.C2143T												74	65	68					17																	61619790		2203	4300	6503	SO:0001583	missense	81033	exon9			AACCTGCGGGACG	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2143C>T	17.37:g.61619790C>T	ENSP00000463533:p.Arg715Trp		60	0	0		34	0.18	6	NM_030779	1	0	0	Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623512	0.66901	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99422	-5.38;-5.88	4.85	4.85	0.62838	.	0.076916	0.50627	D	0.000109	D	0.99223	0.9730	L	0.54323	1.7	0.50313	D	0.999866	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.995;0.918;0.999;0.987	D	0.98894	1.0774	10	0.87932	D	0	.	12.7309	0.57197	0.3144:0.6856:0.0:0.0	.	592;715;662;715	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	W	715;662	ENSP00000318212:R715W;ENSP00000396900:R662W	ENSP00000318212:R715W	R	+	1	2	KCNH6	58973522	0.958000	0.32768	1.000000	0.80357	0.983000	0.72400	0.700000	0.25601	2.213000	0.71641	0.563000	0.77884	CGG			0.622	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443853.1		NM_030779		T	61619790	C	T	61619790	3	4	87	1	0	0	0	0	1	0	0	0	8051	759	27	1	2177	1	KCNH6	17	61619790	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	3116112	61619790	19575420	48	6110											
USP36	57602	mdanderson.org	37	chr17	76799994	76799994	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgggggtactggacagCaatgtggggtgggggctgaa	7	8	21	5	0	0	1	0	1	0	0	0	2	0	2	0	8	2	4	0	8	3	2			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr17:76799994C>T	ENST00000542802.3	-	16	2726	c.2283G>A	c.(2281-2283)ttG>ttA	p.L761L	USP36_ENST00000312010.6_Silent_p.L761L|USP36_ENST00000449938.2_Intron			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	761					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)			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)			TACTGGACAGCAATGTGGGGT	0.632																																					p.L761L													.	.			0			c.G2283A												23	30	27					17																	76799994		1922	3661	5583	SO:0001819	synonymous_variant	57602	exon16			GGACAGCAATGTG	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.2283G>A	17.37:g.76799994C>T			30	0	0		33	0.09	3	NM_025090	120	0	0	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	CCDS32755.1																																																																																					0.632	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437472.3		NM_025090		T	76799994	C	T	76799994	2	4	87	1	0	0	0	0	0	0	0	1	17091	709	25	2		2	USP36	17	76799994	Silent	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	15180204	76799994	4395216	49	6111											
SIRT7	51547	ucsc.edu;bcgsc.ca	37	chr17	79873553	79873553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggtagtctgggatagacGctgcctgcatgtcgagaaaa	10	8	13	10	3	1	2	0	0	1	2	2	4	1	3	2	2	2	3	2	2	4	2			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr17:79873553G>A	ENST00000328666.6	-	4	403	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	114	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGGGATAGACGCTGCCTGCAT	0.552																																					p.A114V													.	SIRT7	37		0			c.C341T												63	56	58					17																	79873553		2203	4299	6502	SO:0001583	missense	51547	exon4			ATAGACGCTGCCT	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.341C>T	17.37:g.79873553G>A	ENSP00000329466:p.Ala114Val		43	0	0		42	0.1	4	NM_016538	58	0	0	A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318767	0.95682	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.23552	1.9	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.965	T	0.72966	-0.4131	10	0.87932	D	0	-18.7783	18.7772	0.91915	0.0:0.0:1.0:0.0	.	114;114	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	V	114;97	ENSP00000329466:A114V	ENSP00000329466:A114V	A	-	2	0	SIRT7	77466845	1.000000	0.71417	0.979000	0.43373	0.813000	0.45954	9.342000	0.97044	2.428000	0.82296	0.655000	0.94253	GCG			0.552	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439961.1		NM_016538		A	79873553	G	A	79873553	3	1	87	1	0	0	0	0	1	0	0	0	14366	1087	38	1	889	1	SIRT7	17	79873553	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	3073559	79873553	1321657	50	6112											
EPB41L3	23136	mdanderson.org	37	chr18	5397245	5397245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctttaatgcctgtgaatgCgggctgtgctgcagcatccc	6	11	11	13	1	0	1	0	1	0	0	1	1	1	1	3	1	5	4	3	1	2	2	rs147247153		TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr18:5397245C>T	ENST00000341928.2	-	18	2993	c.2653G>A	c.(2653-2655)Gca>Aca	p.A885T	EPB41L3_ENST00000342933.3_Missense_Mutation_p.A885T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A182T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A663T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A716T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A663T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A190T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	885	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						CCTGTGAATGCGGGCTGTGCT	0.612																																					p.A885T													.	.			0			c.G2653A							C	THR/ALA	0,4406		0,0,2203	95	82	86		2653	2	0	18	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPB41L3	NM_012307.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	885/1088	5397245	1,13005	2203	4300	6503	SO:0001583	missense	23136	exon18			TGAATGCGGGCTG	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.2653G>A	18.37:g.5397245C>T	ENSP00000343158:p.Ala885Thr		60	0	0		53	0.06	3	NM_012307	1	0	0	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	2.727	-0.265280	0.05754	0.0	1.16E-4	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.73	1.97	0.26223	.	1.523560	0.03311	N	0.190565	T	0.35885	0.0947	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B;B;B	0.21381	0.002;0.001;0.003;0.008;0.002;0.055;0.045;0.005	B;B;B;B;B;B;B;B	0.17979	0.002;0.001;0.008;0.003;0.001;0.02;0.007;0.002	T	0.19128	-1.0315	10	0.13108	T	0.6	.	9.6451	0.39863	0.0:0.7306:0.0:0.2694	.	716;182;190;277;554;663;885;120	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	T	885;554;716;554;182;190;885;663	ENSP00000343158:A885T;ENSP00000441174:A716T;ENSP00000392195:A182T;ENSP00000442233:A190T;ENSP00000341138:A885T;ENSP00000382981:A663T	ENSP00000343158:A885T	A	-	1	0	EPB41L3	5387245	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.058000	0.11750	0.073000	0.16731	-0.216000	0.12614	GCA	0		0.612	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254424.1		NM_012307		T	5397245	C	T	5397245	3	4	87	1	0	0	0	0	1	0	0	0	5161	768	27	1	630	1	EPB41L3	18	5397245	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10		5397245	72680003	51	6113											
ONECUT2	9480	mdanderson.org	37	chr18	55103949	55103949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggccagctggaagaaatcaAcaccaaagaggtggcccagc	14	3	13	11	0	1	2	1	0	0	2	1	3	1	3	3	4	3	1	3	4	4	0			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr18:55103949A>G	ENST00000491143.2	+	1	1033	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	334					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GAAGAAATCAACACCAAAGAG	0.652																																					p.N334S													.	.			0			c.A1001G												26	30	29					18																	55103949		2095	4241	6336	SO:0001583	missense	9480	exon1			AAATCAACACCAA	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1001A>G	18.37:g.55103949A>G	ENSP00000419185:p.Asn334Ser		54	0	0		40	0.08	3	NM_004852	0		0		Missense_Mutation	SNP	ENST00000491143.2	37	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064934	0.76187	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	4.87	4.87	0.63330	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.85630	2.765	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.83078	-0.0139	9	0.87932	D	0	-25.5326	12.4278	0.55557	1.0:0.0:0.0:0.0	.	334	O95948	ONEC2_HUMAN	S	315;334	.	ENSP00000262095:N334S	N	+	2	0	ONECUT2	53254947	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.195000	0.94971	1.846000	0.53633	0.374000	0.22700	AAC			0.652	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357264.3				G	55103949	A	G	55103949	3	3	87	1	0	0	0	0	1	0	0	0	10886	43	2	4	1003	4	ONECUT2	18	55103949	Missense_Mutation	SNP	A	TCGA-S6-A8JX-01A-11D-A435-10	49706704	55103949	22973299	52	6114											
VPS4B	9525	mdanderson.org	37	chr18	61064290	61064290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaaaatgagtagctgactGtactttcctaacaggctgca	12	13	8	8	0	0	2	0	2	0	0	1	2	1	2	1	1	4	5	1	1	5	6			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr18:61064290G>T	ENST00000238497.5	-	9	1272	c.1069C>A	c.(1069-1071)Cag>Aag	p.Q357K	VPS4B_ENST00000591383.1_5'Flank	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	357					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						GTAGCTGACTGTACTTTCCTA	0.393																																					p.Q357K													.	.			0			c.C1069A												104	101	102					18																	61064290		2203	4300	6503	SO:0001583	missense	9525	exon9			CTGACTGTACTTT	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.1069C>A	18.37:g.61064290G>T	ENSP00000238497:p.Gln357Lys		84	0.0119047619	1		44	0.07	3	NM_004869	36	0	0	Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295164	0.95574	.	.	ENSG00000119541	ENST00000238497	D	0.93811	-3.29	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.85130	0.996;0.997;0.996	D	0.95394	0.8484	10	0.54805	T	0.06	-18.4877	20.8794	0.99867	0.0:0.0:1.0:0.0	.	357;357;357	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	K	357	ENSP00000238497:Q357K	ENSP00000238497:Q357K	Q	-	1	0	VPS4B	59215270	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CAG			0.393	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256198.2		NM_004869		T	61064290	G	T	61064290	3	4	87	1	0	0	0	0	1	0	0	0	17237	1386	48	3	277	3	VPS4B	18	61064290	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	5960341	61064290	17012958	53	6115											
KIAA1543	57662	mdanderson.org	37	chr19	7677132	7677132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaggccggagcggggTcccccacgtccactccggcc	5	4	15	17	4	0	1	0	1	0	0	3	2	3	2	6	6	1	1	6	6	0	0	rs147882622		TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr19:7677132T>C	ENST00000160298.4	+	11	1854	c.1753T>C	c.(1753-1755)Tcc>Ccc	p.S585P	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.S612P	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	585					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CGGAGCGGGGTCCCCCACGTC	0.647																																					p.S612P													.	.			0			c.T1834C												6	8	7					19																	7677132		1864	4043	5907	SO:0001583	missense	57662	exon13			GCGGGGTCCCCCA	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1753T>C	19.37:g.7677132T>C	ENSP00000160298:p.Ser585Pro		33	0.0303030303	1		30	0.13	4	NM_001080429	65	0	0	Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	t	9.926	1.213513	0.22289	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.15952	2.38;2.38	3.96	2.87	0.33458	.	3.429250	0.01465	U	0.016052	T	0.14442	0.0349	N	0.22421	0.69	0.27273	N	0.958306	B;B	0.09022	0.002;0.001	B;B	0.09377	0.001;0.004	T	0.15867	-1.0422	10	0.32370	T	0.25	-3.9478	8.9041	0.35512	0.0:0.0:0.2932:0.7068	.	585;612	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	P	612;585	ENSP00000416797:S612P;ENSP00000160298:S585P	ENSP00000160298:S585P	S	+	1	0	KIAA1543	7583132	0.000000	0.05858	0.985000	0.45067	0.978000	0.69477	-0.357000	0.07651	1.422000	0.47177	0.445000	0.29226	TCC			0.647	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459300.1		XM_048362		C	7677132	T	C	7677132	3	2	87	1	0	0	0	0	1	0	0	0	8258	1667	58	4	1884	4	KIAA1543	19	7677132	Missense_Mutation	SNP	T	TCGA-S6-A8JX-01A-11D-A435-10		7677132	51451851	54	6116											
MUC16	94025	broad.mit.edu	37	chr19	9046934	9046934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctggttcatatggggtcTcactcaatgttgggaaggtt	7	15	12	7	0	4	0	3	0	2	0	6	1	4	1	0	5	0	3	0	5	3	4			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr19:9046934T>C	ENST00000397910.4	-	5	34900	c.34697A>G	c.(34696-34698)gAg>gGg	p.E11566G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11568	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						ATATGGGGTCTCACTCAATGT	0.498																																					p.E11566G													.	MUC16	4315		0			c.A34697G												151	149	150					19																	9046934		1979	4160	6139	SO:0001583	missense	94025	exon5			GGGGTCTCACTCA	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.34697A>G	19.37:g.9046934T>C	ENSP00000381008:p.Glu11566Gly		105	0	0		99	0.04	4	NM_024690	4	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.846	0.525336	0.13066	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	2.89	-3.98	0.04082	.	.	.	.	.	T	0.01421	0.0046	N	0.19112	0.55	.	.	.	B	0.22146	0.065	B	0.19148	0.024	T	0.47182	-0.9137	8	0.87932	D	0	.	1.0946	0.01670	0.4833:0.1175:0.164:0.2352	.	11566	B5ME49	.	G	11566	ENSP00000381008:E11566G	ENSP00000381008:E11566G	E	-	2	0	MUC16	8907934	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.894000	0.00340	-1.164000	0.02790	0.378000	0.23410	GAG			0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690		C	9046934	T	C	9046934	3	2	87	1	0	0	0	0	1	0	0	0	9989	1551	54	4	9146	4	MUC16	19	9046934	Missense_Mutation	SNP	T	TCGA-S6-A8JX-01A-11D-A435-10	1369802	9046934	50082049	55	6117											
ZNF85	7639	mdanderson.org	37	chr19	21132802	21132802	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggttttaaatggccCtcaacccttactatccataa	13	11	6	11	0	1	0	1	0	0	0	2	0	2	0	3	3	2	2	3	3	7	5			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr19:21132802C>A	ENST00000328178.8	+	4	1595	c.1482C>A	c.(1480-1482)ccC>ccA	p.P494P	ZNF85_ENST00000345030.6_Silent_p.P461P|ZNF85_ENST00000601023.1_Silent_p.P435P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	494					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TTAAATGGCCCTCAACCCTTA	0.353																																					p.P524P													.	.			0			c.C1572A												24	26	25					19																	21132802		2193	4289	6482	SO:0001819	synonymous_variant	7639	exon5			ATGGCCCTCAACC	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1482C>A	19.37:g.21132802C>A			24	0	0		47	0.06	3	NM_001256171	25	0	0	B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	CCDS32977.1																																																																																					0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463430.1		NM_003429		A	21132802	C	A	21132802	2	1	87	1	0	0	0	0	0	0	0	1	18216	668	24	3		3	ZNF85	19	21132802	Silent	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	12085868	21132802	37996181	56	6118											
FBXO46	23403	mdanderson.org	37	chr19	46215771	46215771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactggcctcatccgccctgGccagcaggaactccacgttg	7	7	10	17	2	1	0	1	0	0	0	3	1	3	1	5	3	2	2	5	3	1	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr19:46215771G>A	ENST00000317683.3	-	2	1116	c.983C>T	c.(982-984)gCc>gTc	p.A328V		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	328										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		ATCCGCCCTGGCCAGCAGGAA	0.701																																					p.A328V													.	.			0			c.C983T												23	26	25					19																	46215771		1980	4141	6121	SO:0001583	missense	23403	exon2			GCCCTGGCCAGCA	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.983C>T	19.37:g.46215771G>A	ENSP00000410007:p.Ala328Val		56	0	0		42	0.07	3	NM_001080469	39	0	0		Missense_Mutation	SNP	ENST00000317683.3	37	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384826	0.42308	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	T	0.38665	0.1049	N	0.03608	-0.345	0.35356	D	0.787817	D	0.64830	0.994	P	0.60173	0.87	T	0.51818	-0.8657	8	0.46703	T	0.11	-7.7223	9.6702	0.40008	0.0:0.0:0.7924:0.2076	.	328	Q6PJ61	FBX46_HUMAN	V	328	.	ENSP00000410007:A328V	A	-	2	0	FBXO46	50907611	0.996000	0.38824	0.981000	0.43875	0.810000	0.45777	1.774000	0.38573	2.284000	0.76573	0.563000	0.77884	GCC			0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459661.1		XM_371179		A	46215771	G	A	46215771	3	1	87	1	0	0	0	0	1	0	0	0	5768	1203	42	2	832	2	FBXO46	19	46215771	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	25082969	46215771	12913212	57	6119											
CCDC8	83987	hgsc.bcm.edu	37	chr19	46914867	46914867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattatctgtaacctctgAcccctggtcagctggggcct	6	13	10	12	0	3	2	1	2	2	0	3	2	3	2	4	3	2	2	4	3	2	3			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr19:46914867A>G	ENST00000307522.3	-	1	1974	c.1201T>C	c.(1201-1203)Tca>Cca	p.S401P		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	401					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GTAACCTCTGACCCCTGGTCA	0.607																																					p.S401P													CCDC8,NS,carcinoma,+2,1	CCDC8	2	1	0			c.T1201C												119	108	112					19																	46914867		2203	4300	6503	SO:0001583	missense	83987	exon1			CCTCTGACCCCTG	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1201T>C	19.37:g.46914867A>G	ENSP00000303158:p.Ser401Pro		56	0	0		66	0.05	3	NM_032040	27	0	0	Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.171871	0.38315	.	.	ENSG00000169515	ENST00000307522	T	0.12039	2.72	3.33	-6.65	0.01795	.	0.658638	0.12488	N	0.464479	T	0.06234	0.0161	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	10	0.22706	T	0.39	-0.552	3.3748	0.07233	0.3418:0.2393:0.337:0.0818	.	401	Q9H0W5	CCDC8_HUMAN	P	401	ENSP00000303158:S401P	ENSP00000303158:S401P	S	-	1	0	CCDC8	51606707	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-1.341000	0.02647	-1.757000	0.01316	0.260000	0.18958	TCA			0.607	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368598.1		NM_032040		G	46914867	A	G	46914867	3	3	87	1	0	0	0	0	1	0	0	0	2855	275	10	4	419	4	CCDC8	19	46914867	Missense_Mutation	SNP	A	TCGA-S6-A8JX-01A-11D-A435-10	699096	46914867	12214116	58	6120											
EPB41L1	2036	mdanderson.org	37	chr20	34809815	34809815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagggttttctgagacaagGatcgagaagcgaatcatcat	13	9	13	6	2	3	2	2	1	1	2	4	7	3	4	0	3	1	1	0	3	3	2			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr20:34809815G>T	ENST00000338074.2	+	20	2630	c.2469G>T	c.(2467-2469)agG>agT	p.R823S	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R643S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R721S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R822S|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R714S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R721S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	823	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)					CTGAGACAAGGATCGAGAAGC	0.547																																					p.R823S													.	.			0			c.G2469T												132	108	116					20																	34809815		2203	4300	6503	SO:0001583	missense	2036	exon20			GACAAGGATCGAG	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.2469G>T	20.37:g.34809815G>T	ENSP00000337168:p.Arg823Ser		29	0	0		43	0.07	3	NM_012156	46	0	0	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.997766|3.997766	0.74818|0.74818	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000451082;ENST00000432603|ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226	.|D;D;D;D;D;D;D	.|0.85171	.|-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.47|5.47	3.54|3.54	0.40534|0.40534	.|Band 4.1, C-terminal (1);	.|.	.|.	.|.	.|.	D|D	0.90376|0.90376	0.6988|0.6988	M|M	0.76170|0.76170	2.325|2.325	0.47511|0.47511	D|D	0.999443|0.999443	.|D;D;D;D;D	.|0.89917	.|1.0;0.989;1.0;0.994;0.993	.|D;D;D;D;D	.|0.91635	.|0.999;0.985;0.997;0.985;0.91	D|D	0.89348|0.89348	0.3659|0.3659	5|9	.|0.87932	.|D	.|0	.|.	8.4702|8.4702	0.32980|0.32980	0.235:0.0:0.765:0.0|0.235:0.0:0.765:0.0	.|.	.|823;643;714;714;721	.|Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.|E41L1_HUMAN;.;.;.;.	V|S	251;61|721;714;714;721;643;823;822;184	.|ENSP00000202028:R721S;ENSP00000363061:R714S;ENSP00000399214:R721S;ENSP00000363057:R643S;ENSP00000337168:R823S;ENSP00000363052:R822S;ENSP00000388281:R184S	.|ENSP00000202028:R721S	G|R	+|+	2|3	0|2	EPB41L1|EPB41L1	34273229|34273229	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.961000|0.961000	0.63080|0.63080	1.202000|1.202000	0.32271|0.32271	0.686000|0.686000	0.31488|0.31488	0.462000|0.462000	0.41574|0.41574	GGA|AGG			0.547	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078978.3		NM_012156		T	34809815	G	T	34809815	3	4	87	1	0	0	0	0	1	0	0	0	5159	1165	41	3	2543	3	EPB41L1	20	34809815	Missense_Mutation	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		34809815	28215705	59	6121											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999711	45999711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccgggcggcagcagctggCctggtaggaggaggcagggg	6	3	23	9	2	0	0	0	0	0	0	0	2	0	2	2	10	2	5	2	10	1	1			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr21:45999711C>G	ENST00000400372.1	-	1	770	c.745G>C	c.(745-747)Gcc>Ccc	p.A249P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	249	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						CAGCAGCTGGCCTGGTAGGAG	0.716																																					p.A249P													.	KRTAP10-5	43		0			c.G745C												31	42	38					21																	45999711		2201	4293	6494	SO:0001583	missense	386680	exon1			AGCTGGCCTGGTA	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.745G>C	21.37:g.45999711C>G	ENSP00000383223:p.Ala249Pro		17	0	0		26	0.12	3	NM_198694	0		0	Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.083263	0.00035	.	.	ENSG00000241123	ENST00000400372	T	0.00637	6.05	3.43	-0.681	0.11342	.	.	.	.	.	T	0.00241	0.0007	N	0.00500	-1.43	0.09310	N	1	B	0.16166	0.016	B	0.26614	0.071	T	0.43410	-0.9393	9	0.02654	T	1	.	2.0586	0.03587	0.2003:0.1676:0.4835:0.1486	.	249	P60370	KR105_HUMAN	P	249	ENSP00000383223:A249P	ENSP00000383223:A249P	A	-	1	0	KRTAP10-5	44824139	0.213000	0.23551	0.034000	0.17996	0.000000	0.00434	0.085000	0.14912	-0.274000	0.09232	-2.817000	0.00109	GCC			0.716	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128042.1				G	45999711	C	G	45999711	3	3	87	1	0	0	0	0	1	0	0	0	8527	739	26	5	74	5	KRTAP10-5	21	45999711	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10		45999711	2130184	60	6122											
ITGB2	3689	mdanderson.org	37	chr21	46308803	46308803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaacttcaggcactcggCgcaggagctgcggggagcca	8	6	15	12	4	1	0	1	0	0	0	3	3	1	2	1	5	4	3	1	5	1	2	rs200894474	byFrequency	TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chr21:46308803C>T	ENST00000397850.2	-	15	2337	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T	ITGB2_ENST00000397854.3_Missense_Mutation_p.A572T|ITGB2_ENST00000355153.4_Missense_Mutation_p.A629T|ITGB2_ENST00000397852.1_Missense_Mutation_p.A629T|ITGB2_ENST00000397857.1_Missense_Mutation_p.A629T|ITGB2_ENST00000302347.5_Missense_Mutation_p.A629T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	629					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGGCACTCGGCGCAGGAGCTG	0.692													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		12099	0		0	False		,,,				2504	0				p.A629T													.	.			0			c.G1885A												20	22	21					21																	46308803		2202	4300	6502	SO:0001583	missense	3689	exon14			ACTCGGCGCAGGA	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1885G>A	21.37:g.46308803C>T	ENSP00000380948:p.Ala629Thr		19	0	0		25	0.08	2	NM_001127491	34	0	0	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.47	1.358433	0.24598	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.07	3.17	0.36434	Integrin beta subunit, tail (2);	.	.	.	.	D	0.85575	0.5728	L	0.51422	1.61	0.09310	N	1	B;P	0.36125	0.245;0.538	B;B	0.33890	0.12;0.172	T	0.75405	-0.3329	9	0.48119	T	0.1	.	6.5832	0.22607	0.0:0.6831:0.0:0.3169	.	572;629	A8MYE6;P05107	.;ITB2_HUMAN	T	629;629;572;629;629;629	ENSP00000380950:A629T;ENSP00000380955:A629T;ENSP00000380952:A572T;ENSP00000347279:A629T;ENSP00000380948:A629T;ENSP00000303242:A629T	ENSP00000303242:A629T	A	-	1	0	ITGB2	45133231	0.007000	0.16637	0.017000	0.16124	0.020000	0.10135	1.539000	0.36104	0.466000	0.27193	0.655000	0.94253	GCC	0		0.692	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206566.2		NM_000211		T	46308803	C	T	46308803	3	4	87	1	0	0	0	0	1	0	0	0	7909	768	27	1	436	1	ITGB2	21	46308803	Missense_Mutation	SNP	C	TCGA-S6-A8JX-01A-11D-A435-10	309092	46308803	1821092	61	6123											
NUDT10	170685	mdanderson.org	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240		TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					p.E69E	NSCLC(90;1817 2035 37909 38249)												.	.			8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	c.G207A												52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			CGAAGAGGCGGGA	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			189	0.0052910053	1		276	0.06	17	NM_153183	61	0	0	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																					0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056578.1		NM_153183		A	51076024	G	A	51076024	2	1	87	1	0	0	0	0	0	0	0	1	10743	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10		51076024	104194536	62	6124											
TAZ	1774	mdanderson.org	37	chrX	153640238	153640238	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccgctcacctggaccctgGccagcagcgtcgtcatgggc	5	6	13	17	4	2	0	2	0	0	0	3	1	2	1	4	3	2	2	4	3	0	0			TCGA-S6-A8JX-01A-11D-A435-10	TCGA-S6-A8JX-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9db7d878-2bc2-4a70-aaa0-3b5faa979a17	49af4ca0-0413-4aa6-9eff-cce3c2f799f2	g.chrX:153640238G>T	ENST00000393638.1	-	0	189				DNASE1L1_ENST00000369809.1_5'UTR|TAZ_ENST00000299328.5_Missense_Mutation_p.A20S|TAZ_ENST00000369790.4_Missense_Mutation_p.A20S|TAZ_ENST00000475699.1_Missense_Mutation_p.A20S|TAZ_ENST00000351413.4_Missense_Mutation_p.A20S|TAZ_ENST00000369776.4_Missense_Mutation_p.A20S|TAZ_ENST00000350743.4_Missense_Mutation_p.A20S	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(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)					CTGGACCCTGGCCAGCAGCGT	0.756																																					p.A20S													.	.			0			c.G58T												17	14	15					X																	153640238		2194	4274	6468	SO:0001623	5_prime_UTR_variant	6901	exon1			ACCCTGGCCAGCA	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.-98C>A	X.37:g.153640238G>T			23	0	0		48	0.06	3	NM_181312	13	0	0	D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049878	0.55218	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D;D;D	0.98958	-5.25;-4.7;-5.27;-5.26;-5.08;-5.27;-5.06;-5.12;-5.13	4.14	4.14	0.48551	.	0.128665	0.53938	D	0.000057	D	0.96769	0.8945	N	0.10645	0.015	0.32650	N	0.519455	B;B;B;B;B;D	0.69078	0.415;0.275;0.105;0.048;0.073;0.997	B;B;B;B;B;D	0.75020	0.083;0.104;0.031;0.034;0.106;0.985	D	0.95333	0.8431	10	0.31617	T	0.26	-7.2862	7.349	0.26680	0.1246:0.0:0.8754:0.0	.	20;20;20;20;20;20	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	S	20	ENSP00000358805:A20S;ENSP00000411182:A20S;ENSP00000299328:A20S;ENSP00000338891:A20S;ENSP00000397388:A20S;ENSP00000218246:A20S;ENSP00000358791:A20S;ENSP00000398193:A20S;ENSP00000419854:A20S	ENSP00000299328:A20S	A	+	1	0	TAZ	153293432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.772000	0.55325	1.666000	0.50821	0.436000	0.28706	GCC			0.756	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080928.2				T	153640238	G	T	153640238	1	4	87	0	1	0	0	0	0	0	0	0	15619	1203	42	2		2	TAZ	23	153640238	5'UTR	SNP	G	TCGA-S6-A8JX-01A-11D-A435-10	102564214	153640238	1630322	63	6125											
AGRN	375790	mdanderson.org	37	chr1	984809	984809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacctctttgtgggcggcGtacccgaggaccaggctgcc	6	7	14	14	3	1	1	0	0	1	1	1	3	1	2	4	4	2	2	4	4	1	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:984809G>A	ENST00000379370.2	+	25	4542	c.4492G>A	c.(4492-4494)Gta>Ata	p.V1498I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1498	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGTGGGCGGCGTACCCGAGGA	0.682																																					p.V1498I													.	.			0			c.G4492A												55	64	61					1																	984809		2203	4300	6503	SO:0001583	missense	375790	exon25			GGCGGCGTACCCG	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4492G>A	1.37:g.984809G>A	ENSP00000368678:p.Val1498Ile		15	0	0		17	0.12	2	NM_198576	30	0	0	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	g	5.367	0.252986	0.10185	.	.	ENSG00000188157	ENST00000379370	T	0.73681	-0.77	4.33	-2.74	0.05932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.587691	0.14381	N	0.323151	T	0.49847	0.1581	N	0.25957	0.775	0.27313	N	0.957268	B	0.20368	0.044	B	0.16722	0.016	T	0.30534	-0.9975	10	0.17369	T	0.5	-11.1033	2.0486	0.03566	0.2793:0.124:0.4695:0.1273	.	1498	O00468	AGRIN_HUMAN	I	1498	ENSP00000368678:V1498I	ENSP00000368678:V1498I	V	+	1	0	AGRN	974672	0.683000	0.27633	0.009000	0.14445	0.001000	0.01503	2.196000	0.42686	-0.850000	0.04152	-0.384000	0.06662	GTA			0.682	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097990.2		NM_198576		A	984809	G	A	984809	3	1	88	1	0	0	0	0	1	0	0	0	397	1145	40	1	4590	1	AGRN	1	984809	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		984809	248265812	1	6126											
PER3	8863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	7870564	7870564	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtcagcagctctacattGagtcaatgaccaaatcatca	13	10	8	10	0	5	2	4	2	1	0	5	2	5	2	1	1	3	2	1	1	3	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:7870564G>C	ENST00000361923.2	+	12	1610	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	PER3_ENST00000377532.3_Missense_Mutation_p.E480Q|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	479					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	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;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTACATTGAGTCAATGAC	0.463																																					p.E479Q													.	.			0			c.G1435C												83	77	79					1																	7870564		2203	4300	6503	SO:0001583	missense	8863	exon12			TACATTGAGTCAA	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1435G>C	1.37:g.7870564G>C	ENSP00000355031:p.Glu479Gln		111	0	0		122	0.32	39	NM_016831	14	0.29	4	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967294	0.74131	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.11712	2.75;2.75	4.65	1.69	0.24217	.	0.394373	0.27280	N	0.020087	T	0.18509	0.0444	M	0.81341	2.54	0.20307	N	0.999913	P;D;D;P	0.58620	0.454;0.971;0.983;0.454	B;B;P;B	0.49999	0.154;0.424;0.628;0.154	T	0.08554	-1.0716	10	0.52906	T	0.07	.	5.6896	0.17823	0.0763:0.1384:0.6417:0.1436	.	479;480;480;479	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	Q	480;479	ENSP00000366755:E480Q;ENSP00000355031:E479Q	ENSP00000355031:E479Q	E	+	1	0	PER3	7793151	1.000000	0.71417	0.003000	0.11579	0.559000	0.35586	5.070000	0.64376	0.196000	0.20367	-0.128000	0.14901	GAG			0.463	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000003607.1		NM_016831		C	7870564	G	C	7870564	3	2	88	1	0	0	0	0	1	0	0	0	11748	1291	45	5	1481	5	PER3	1	7870564	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	6885755	7870564	241380057	2	6127											
CLDN19	149461	mdanderson.org	37	chr1	43201580	43201580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagagggtccaggccgatAgggctgtgggctgctgttgg	6	8	19	8	1	0	1	0	0	0	1	1	2	1	1	2	5	2	5	2	5	1	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:43201580A>G	ENST00000296387.1	-	4	785	c.595T>C	c.(595-597)Tat>Cat	p.Y199H	CLDN19_ENST00000539749.1_Silent_p.P170P|CLDN19_ENST00000372539.3_Missense_Mutation_p.Y199H	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	199					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGGCCGATAGGGCTGTGGG	0.701																																					p.Y199H													.	.			0			c.T595C												34	32	33					1																	43201580		2191	4286	6477	SO:0001583	missense	149461	exon4			GCCGATAGGGCTG	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"Claudins"	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.595T>C	1.37:g.43201580A>G	ENSP00000296387:p.Tyr199His		69	0	0		44	0.07	3	NM_001123395	26	0	0	B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	CCDS471.1	.	.	.	.	.	.	.	.	.	.	a	13.65	2.301101	0.40694	.	.	ENSG00000164007	ENST00000296387;ENST00000372539	D;D	0.91180	-2.8;-2.78	4.31	4.31	0.51392	.	0.484228	0.21268	N	0.077380	T	0.80618	0.4657	N	0.08118	0	0.80722	D	1	B;B	0.19445	0.036;0.003	B;B	0.22880	0.042;0.009	T	0.76599	-0.2900	10	0.41790	T	0.15	.	11.4698	0.50261	1.0:0.0:0.0:0.0	.	199;199	Q8N6F1-2;Q8N6F1	.;CLD19_HUMAN	H	199	ENSP00000296387:Y199H;ENSP00000361617:Y199H	ENSP00000296387:Y199H	Y	-	1	0	CLDN19	42974167	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.046000	0.57376	1.816000	0.52996	0.375000	0.23000	TAT			0.701	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000019788.1		NM_148960		G	43201580	A	G	43201580	3	3	88	1	0	0	0	0	1	0	0	0	3482	420	15	4	203	4	CLDN19	1	43201580	Missense_Mutation	SNP	A	TCGA-S6-A8JY-01A-11D-A435-10	35331016	43201580	206049041	3	6128											
LPHN2	23266	broad.mit.edu	37	chr1	82433827	82433827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaataaaactcgaacaacgTgtgcatgcagccacctaacc	15	7	6	13	2	0	0	0	0	0	0	1	1	0	0	3	0	7	2	3	0	6	3			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:82433827T>C	ENST00000370728.1	+	16	3100	c.2455T>C	c.(2455-2457)Tgt>Cgt	p.C819R	LPHN2_ENST00000370713.1_Missense_Mutation_p.C806R|LPHN2_ENST00000370715.1_Missense_Mutation_p.C806R|LPHN2_ENST00000394879.1_Missense_Mutation_p.C806R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.C819R|LPHN2_ENST00000370721.1_Missense_Mutation_p.C744R|LPHN2_ENST00000319517.6_Missense_Mutation_p.C806R|LPHN2_ENST00000370725.1_Missense_Mutation_p.C819R|LPHN2_ENST00000335786.5_Missense_Mutation_p.C819R|LPHN2_ENST00000370723.1_Missense_Mutation_p.C806R|LPHN2_ENST00000370730.1_Missense_Mutation_p.C819R|LPHN2_ENST00000370717.2_Missense_Mutation_p.C819R|LPHN2_ENST00000359929.3_Missense_Mutation_p.C806R|LPHN2_ENST00000370727.1_Missense_Mutation_p.C819R			O95490	LPHN2_HUMAN	latrophilin 2	819	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)	p.C806S(1)|p.C819S(1)		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)		TCGAACAACGTGTGCATGCAG	0.438																																					p.C806R													LPHN2_ENST00000370725,NS,carcinoma,0,2	LPHN2	464	2	2	Substitution - Missense(2)	endometrium(2)	c.T2416C												120	116	118					1																	82433827		2203	4300	6503	SO:0001583	missense	23266	exon12			ACAACGTGTGCAT	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.2455T>C	1.37:g.82433827T>C	ENSP00000359763:p.Cys819Arg		149	0	0		132	0.04	5	NM_012302	18	0.11	2	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	T	19.66	3.869176	0.72065	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	H	0.99487	4.59	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	0.98395	1.0565	10	0.87932	D	0	.	15.6195	0.76796	0.0:0.0:0.0:1.0	.	806;806;806	O95490-3;O95490-4;O95490-2	.;.;.	R	744;819;819;819;819;806;806;806;806;806;819;806;819;819	ENSP00000359756:C744R;ENSP00000359763:C819R;ENSP00000359765:C819R;ENSP00000359762:C819R;ENSP00000359760:C819R;ENSP00000359758:C806R;ENSP00000353006:C806R;ENSP00000359750:C806R;ENSP00000359748:C806R;ENSP00000322270:C806R;ENSP00000359752:C819R;ENSP00000378344:C806R;ENSP00000271029:C819R;ENSP00000337306:C819R	ENSP00000271029:C819R	C	+	1	0	LPHN2	82206415	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	8.040000	0.89188	2.090000	0.63153	0.477000	0.44152	TGT			0.438	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000027188.1	rescued with RNA-seq	NM_012302		C	82433827	T	C	82433827	3	2	88	1	0	0	0	0	1	0	0	0	8932	1696	59	4	2458	4	LPHN2	1	82433827	Missense_Mutation	SNP	T	TCGA-S6-A8JY-01A-11D-A435-10	39232247	82433827	166816794	4	6129											
HRNR	388697	broad.mit.edu	37	chr1	152188602	152188604	+	In_Frame_Del	DEL	GTC	GTC	-																															gtgcccggaaccggacccatGtcggccgcgactaggagact																								rs370029883		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	GTC	GTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:152188602_152188604delGTC	ENST00000368801.2	-	3	5576_5578	c.5501_5503delGAC	c.(5500-5505)cgacat>cat	p.R1834del	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1834					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)			CCGGACCCATGTCGGCCGCGACT	0.616																																					p.1834_1835del													.	HRNR	403		0			c.5501_5503del																																									SO:0001651	inframe_deletion	388697	exon3			ACCCATGTCGGCC	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.5501_5503delGAC	1.37:g.152188602_152188604delGTC	ENSP00000357791:p.Arg1834del		592	0	0		553	0.02	12	NM_001009931	2	0	0	Q5DT20|Q5U1F4	In_Frame_Del	DEL	ENST00000368801.2	37	CCDS30859.1																																																																																					0.616	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034016.1		XM_373868		-	152188604	GTC	-	152188602	7	5	88	1	0	1	0	1	0	0	0	0	7374	1377	48	0	3053	0	HRNR	1	152188602	In_Frame_Del	DEL	GTC	TCGA-S6-A8JY-01A-11D-A435-10	69754775	152188602	97062019	5	6130											
PEX19	5824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	160254906	160254906	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactacagccttcctcagcGgcggccatcttgctacctcc	7	9	7	18	2	2	0	1	0	1	0	4	0	4	0	5	2	5	1	5	2	2	4	rs373206658		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:160254906G>T	ENST00000368072.5	-	1	30	c.9C>A	c.(7-9)gcC>gcA	p.A3A	PEX19_ENST00000532508.1_5'Flank|DCAF8_ENST00000608310.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000440949.3_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	3	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCCTCAGCGGCGGCCATCT	0.642																																					p.A3A													.	.			0			c.C9A												67	67	67					1																	160254906		2203	4300	6503	SO:0001819	synonymous_variant	5824	exon1			CTCAGCGGCGGCC	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.9C>A	1.37:g.160254906G>T			69	0	0		53	0.26	14	NM_002857	34	0.21	7	D3DVE7|Q5QNY4|Q8NI97	Silent	SNP	ENST00000368072.5	37	CCDS1201.1																																																																																					0.642	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080642.2		NM_002857		T	160254906	G	T	160254906	2	4	88	1	0	0	0	0	0	0	0	1	11761	1103	39	1		1	PEX19	1	160254906	Silent	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	8066304	160254906	88995715	6	6131											
RGS1	5996	mdanderson.org	37	chr1	192544965	192544965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaaagttagacaaaatgCcaggaatgttcttctctgct	12	12	7	10	0	2	1	0	0	2	1	4	2	3	2	2	1	2	3	2	1	5	3			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:192544965C>T	ENST00000367459.3	+	1	109	c.43C>T	c.(43-45)Cca>Tca	p.P15S	RGS1_ENST00000469578.2_Missense_Mutation_p.P15S	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	15					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AGACAAAATGCCAGGAATGTT	0.433																																					p.P15S													RGS1_ENST00000367459,NS,carcinoma,-1,2	RGS1_ENST00000367459	-1	2	0			c.C43T												91	90	90					1																	192544965		2203	4300	6503	SO:0001583	missense	5996	exon1			AAAATGCCAGGAA	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"Regulators of G-protein signaling"	9991	protein-coding gene	gene with protein product		600323	"regulator of G-protein signalling 1"	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.43C>T	1.37:g.192544965C>T	ENSP00000356429:p.Pro15Ser		107	0	0		113	0.04	5	NM_002922	28	0	0	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776811	0.49786	.	.	ENSG00000090104	ENST00000367459	T	0.52983	0.64	6.08	6.08	0.98989	.	0.585543	0.17476	N	0.172907	T	0.62208	0.2409	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.61520	-0.7046	10	0.72032	D	0.01	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	15;15	Q08116-2;Q08116	.;RGS1_HUMAN	S	15	ENSP00000356429:P15S	ENSP00000356429:P15S	P	+	1	0	RGS1	190811588	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.782000	0.55401	2.894000	0.99253	0.591000	0.81541	CCA			0.433	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086391.1		NM_002922		T	192544965	C	T	192544965	3	4	88	1	0	0	0	0	1	0	0	0	13315	739	26	2	45	2	RGS1	1	192544965	Missense_Mutation	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	32290059	192544965	56705656	7	6132											
SIPA1L2	57568	mdanderson.org	37	chr1	232561342	232561342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccctcacttacttctcagGctccccatgctgggtgcggg	4	10	11	16	1	2	0	2	0	1	0	4	0	3	0	4	3	3	2	4	3	1	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:232561342G>T	ENST00000366630.1	-	17	4981	c.4623C>A	c.(4621-4623)agC>agA	p.S1541R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1541R|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S615R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1541					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)				TACTTCTCAGGCTCCCCATGC	0.642																																					p.S1541R													.	.			0			c.C4623A												20	24	22					1																	232561342		2175	4277	6452	SO:0001583	missense	57568	exon16			TCTCAGGCTCCCC	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.4623C>A	1.37:g.232561342G>T	ENSP00000355589:p.Ser1541Arg		36	0	0		37	0.08	3	NM_020808	188	0	0	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490327	0.44249	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.32988	1.43;1.43;1.43	5.03	4.11	0.48088	.	0.196488	0.53938	D	0.000042	T	0.22551	0.0544	L	0.47190	1.495	0.33527	D	0.593186	B;P	0.38504	0.351;0.634	B;B	0.31390	0.129;0.124	T	0.40232	-0.9574	10	0.54805	T	0.06	-25.675	8.0459	0.30549	0.2548:0.0:0.7452:0.0	.	1541;615	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	R	1541;1541;615	ENSP00000355589:S1541R;ENSP00000262861:S1541R;ENSP00000309102:S615R	ENSP00000262861:S1541R	S	-	3	2	SIPA1L2	230627965	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.519000	0.53458	1.475000	0.48197	0.650000	0.86243	AGC			0.642	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092318.1		XM_045839		T	232561342	G	T	232561342	3	4	88	1	0	0	0	0	1	0	0	0	14353	1194	42	2	569	2	SIPA1L2	1	232561342	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	40016377	232561342	16689279	8	6133											
NMS	129521	bcgsc.ca;mdanderson.org	37	chr2	101095866	101095866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaagctcgccaacaggCggatgaagagaattctgcag	12	6	12	11	2	1	2	0	1	1	1	2	4	1	3	2	2	4	2	2	2	4	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:101095866C>T	ENST00000376865.1	+	6	320	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	105					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CGCCAACAGGCGGATGAAGAG	0.522																																					p.R105W													.	NMS	26		0			c.C313T												82	75	77					2																	101095866		2203	4300	6503	SO:0001583	missense	129521	exon6			AACAGGCGGATGA	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"Endogenous ligands"	32203	protein-coding gene	gene with protein product	"prepro-NMS"					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.313C>T	2.37:g.101095866C>T	ENSP00000366061:p.Arg105Trp		93	0	0		102	0.05	5	NM_001011717	0		0		Missense_Mutation	SNP	ENST00000376865.1	37	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650378	0.67472	.	.	ENSG00000204640	ENST00000376865	T	0.31769	1.48	4.73	3.61	0.41365	.	0.184923	0.33753	N	0.004584	T	0.51686	0.1689	M	0.79926	2.475	0.09310	N	0.999999	D	0.89917	1.0	D	0.67548	0.952	T	0.43988	-0.9357	10	0.87932	D	0	-8.6865	8.3789	0.32459	0.7597:0.2403:0.0:0.0	.	105	Q5H8A3	NMS_HUMAN	W	105	ENSP00000366061:R105W	ENSP00000366061:R105W	R	+	1	2	NMS	100462298	0.856000	0.29760	0.121000	0.21740	0.287000	0.27160	1.532000	0.36029	0.976000	0.38417	0.591000	0.81541	CGG			0.522	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329737.1		NM_001011717		T	101095866	C	T	101095866	3	4	88	1	0	0	0	0	1	0	0	0	10519	759	27	1	335	1	NMS	2	101095866	Missense_Mutation	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10		101095866	142103507	9	6134											
INHBB	3625	broad.mit.edu	37	chr2	121106822	121106822	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggcggaaggtgcgggTcaaagtgtacttccaggagc	9	6	16	10	3	1	0	1	0	0	0	2	2	2	2	2	5	4	1	2	5	3	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:121106822T>C	ENST00000295228.3	+	2	642	c.596T>C	c.(595-597)gTc>gCc	p.V199A		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	199					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				AAGGTGCGGGTCAAAGTGTAC	0.607																																					p.V199A													.	INHBB	29		0			c.T596C												83	80	81					2																	121106822		2203	4300	6503	SO:0001583	missense	3625	exon2			TGCGGGTCAAAGT		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.596T>C	2.37:g.121106822T>C	ENSP00000295228:p.Val199Ala		154	0	0		134	0.04	5	NM_002193	1	0	0	Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240779	0.39598	.	.	ENSG00000163083	ENST00000295228	T	0.72615	-0.67	4.94	4.94	0.65067	Transforming growth factor-beta, N-terminal (1);	0.173669	0.36665	N	0.002470	T	0.67002	0.2847	L	0.55834	1.745	0.43545	D	0.995847	B	0.24186	0.099	B	0.24006	0.05	T	0.68292	-0.5447	10	0.87932	D	0	-6.3461	14.0023	0.64442	0.0:0.0:0.0:1.0	.	199	P09529	INHBB_HUMAN	A	199	ENSP00000295228:V199A	ENSP00000295228:V199A	V	+	2	0	INHBB	120823292	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.934000	0.63491	2.202000	0.70862	0.533000	0.62120	GTC			0.607	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254234.1				C	121106822	T	C	121106822	3	2	88	1	0	0	0	0	1	0	0	0	7757	1667	58	4	602	4	INHBB	2	121106822	Missense_Mutation	SNP	T	TCGA-S6-A8JY-01A-11D-A435-10	20010956	121106822	122092551	10	6135											
USP40	55230	hgsc.bcm.edu	37	chr2	234394246	234394246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataatcttgtttttttttCtttttcctcttggttatttg	6	26	4	5	0	3	0	0	0	3	0	4	0	4	0	1	1	0	2	1	1	3	11			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:234394246C>T	ENST00000427112.2	-	29	3467	c.3432G>A	c.(3430-3432)aaG>aaA	p.K1144K	USP40_ENST00000450966.1_Silent_p.K1156K|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Silent_p.K1144K			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1144					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)		GTTTTTTTTTCTTTTTCCTCT	0.333																																					p.K1156K													USP40_ENST00000450966,NS,carcinoma,0,2	USP40_ENST00000450966	0	2	0			c.G3468A												67	63	64					2																	234394246		1811	4082	5893	SO:0001819	synonymous_variant	55230	exon29			TTTTTTCTTTTTC	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.3432G>A	2.37:g.234394246C>T			161	0.0062111801	1		183	0.05	9	NM_018218	26	0	0	Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	9.081	0.999290	0.19121	.	.	ENSG00000085982	ENST00000454354	.	.	.	5.75	4.87	0.63330	.	.	.	.	.	T	0.60392	0.2265	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58657	-0.7598	4	.	.	.	.	9.667	0.39990	0.0:0.7842:0.1421:0.0737	.	.	.	.	K	112	.	.	R	-	2	0	USP40	234058985	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.916000	0.39986	1.411000	0.46957	0.650000	0.86243	AGA			0.333	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000397235.1		XM_114294		T	234394246	C	T	234394246	2	4	88	1	0	0	0	0	0	0	0	1	17096	912	32	3		3	USP40	2	234394246	Silent	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	113287424	234394246	8805127	11	6136											
MST1	63891	ucsc.edu	37	chr3	49725038	49725038	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacgccgcagcctcgtgtgGggcgagtgttgagtccatgg	6	8	17	10	4	0	1	0	1	0	0	2	3	1	1	3	3	2	2	3	3	1	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr3:49725038G>C	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.P27P|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_Silent_p.P88P|MST1_ENST00000449682.2_Silent_p.P102P	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)	p.P88L(1)		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)		GCCTCGTGTGGGGCGAGTGTT	0.622																																					p.P102P													.	MST1	84		1	Substitution - Missense(1)	skin(1)	c.C306G												64	56	58					3																	49725038		2203	4300	6503	SO:0001631	upstream_gene_variant	4485	exon3			CGTGTGGGGCGAG	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.49725038G>C	Exception_encountered		100	0.03	3		86	0.19	16	NM_020998	24	0	0	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																					0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346475.2		NM_022064		C	49725038	G	C	49725038	1	2	88	0	1	0	0	0	0	0	0	0	9906	1219	43	5		5	MST1	3	49725038	5'Flank	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		49725038	148297392	12	6137											
MST1	63891	ucsc.edu;bcgsc.ca	37	chr3	49725086	49725086	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaccatggctgctcacGttgtagtggaaggccctgga	8	9	14	10	1	1	0	1	0	0	0	1	2	1	2	2	5	2	5	2	5	3	2	rs201833731	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr3:49725086G>A	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.N11N|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_Silent_p.N72N|MST1_ENST00000449682.2_Silent_p.N86N	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)		GGCTGCTCACGTTGTAGTGGA	0.617																																					p.N86N													.	MST1	84		0			c.C258T												50	44	46					3																	49725086		2202	4300	6502	SO:0001631	upstream_gene_variant	4485	exon3			GCTCACGTTGTAG	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.49725086G>A	Exception_encountered		87	0.0229885057	2		74	0.18	13	NM_020998	31	0	0	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																					0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346475.2		NM_022064		A	49725086	G	A	49725086	1	1	88	0	1	0	0	0	0	0	0	0	9906	1136	40	1		1	MST1	3	49725086	5'Flank	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	48	49725086	148297344	13	6138											
SLC12A8	84561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	124909295	124909295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtgaacacaccatcccagGtcccaaacagcacaggctcc	13	5	7	16	0	0	1	0	1	0	0	3	1	3	1	4	2	3	2	4	2	2	0			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr3:124909295G>C	ENST00000393469.4	-	2	171	c.122C>G	c.(121-123)aCc>aGc	p.T41S	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.T41S|SLC12A8_ENST00000423114.2_Missense_Mutation_p.T70S	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	41					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ACCATCCCAGGTCCCAAACAG	0.572																																					p.T41S													.	.			0			c.C122G												140	150	147					3																	124909295		2057	4213	6270	SO:0001583	missense	84561	exon3			TCCCAGGTCCCAA		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.122C>G	3.37:g.124909295G>C	ENSP00000377112:p.Thr41Ser		255	0	0		223	0.24	54	NM_024628	12	0.25	3	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105114	0.77096	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000462437	D;D;D;D	0.96685	-2.85;-2.88;-2.85;-4.09	5.55	5.55	0.83447	.	.	.	.	.	D	0.97623	0.9221	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	D	0.96546	0.9404	9	0.13108	T	0.6	.	17.6788	0.88237	0.0:0.0:1.0:0.0	.	70;41	A0AV02-2;A0AV02	.;S12A8_HUMAN	S	41;70;41;9	ENSP00000377112:T41S;ENSP00000404243:T70S;ENSP00000418783:T41S;ENSP00000418636:T9S	ENSP00000377112:T41S	T	-	2	0	SLC12A8	126391985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.573000	0.82421	2.593000	0.87608	0.655000	0.94253	ACC			0.572	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355711.4		NM_024628		C	124909295	G	C	124909295	3	2	88	1	0	0	0	0	1	0	0	0	14412	1261	44	5	2070	5	SLC12A8	3	124909295	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	75184209	124909295	73113135	14	6139											
AMOTL2	51421	ucsc.edu;bcgsc.ca	37	chr3	134080365	134080365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagctcacctgctgtgcacGcagggccttgagttcctgct	5	11	11	14	1	2	1	2	1	0	0	3	1	3	1	3	1	4	6	3	1	0	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr3:134080365G>T	ENST00000422605.2	-	6	1730	c.1564C>A	c.(1564-1566)Cgt>Agt	p.R522S	AMOTL2_ENST00000513145.1_Missense_Mutation_p.R522S|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R522S|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R580S			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	522					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						TGCTGTGCACGCAGGGCCTTG	0.647																																					p.R522S													.	AMOTL2	52		0			c.C1564A												24	25	25					3																	134080365		2203	4296	6499	SO:0001583	missense	51421	exon6			GTGCACGCAGGGC	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.1564C>A	3.37:g.134080365G>T	ENSP00000409999:p.Arg522Ser		55	0	0		37	0.11	4	NM_016201	16	0	0	A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37		.	.	.	.	.	.	.	.	.	.	G	16.62	3.174271	0.57692	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.35789	1.32;1.34;1.29;1.62	5.41	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.72353	2.195	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	T	0.54781	-0.8242	10	0.44086	T	0.13	-15.1553	13.5542	0.61749	0.0:0.0:0.6598:0.3402	.	522;522;580	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	S	522;522;580;522	ENSP00000249883:R522S;ENSP00000409999:R522S;ENSP00000424765:R580S;ENSP00000425475:R522S	ENSP00000249883:R522S	R	-	1	0	AMOTL2	135563055	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.113000	0.41902	2.816000	0.96949	0.563000	0.77884	CGT			0.647	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000358149.1		NM_016201		T	134080365	G	T	134080365	3	4	88	1	0	0	0	0	1	0	0	0	584	1087	38	1	798	1	AMOTL2	3	134080365	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	9171070	134080365	63942065	15	6140											
FIP1L1	81608	hgsc.bcm.edu	37	chr4	54257228	54257228	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatgaagatacctggaaAgcttactgtgaaaaacaaaa	19	10	7	5	0	0	3	0	2	0	1	0	4	0	4	1	1	4	1	1	1	9	4			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr4:54257228A>G	ENST00000337488.6	+	8	752	c.558A>G	c.(556-558)aaA>aaG	p.K186K	FIP1L1_ENST00000507166.1_Silent_p.K186K|FIP1L1_ENST00000358575.5_Silent_p.K171K|FIP1L1_ENST00000306932.6_Silent_p.K171K|FIP1L1_ENST00000507922.1_Silent_p.K171K	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	186	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				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)			ATACCTGGAAAGCTTACTGTG	0.303			T	PDGFRA	idiopathic hypereosinophilic syndrome																																p.K186K				Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	.	.			0			c.A558G												79	88	85					4																	54257228		2203	4300	6503	SO:0001819	synonymous_variant	81608	exon8			CTGGAAAGCTTAC	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.558A>G	4.37:g.54257228A>G			186	0	0		365	0.23	85	NM_030917	224	0	0	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Silent	SNP	ENST00000337488.6	37	CCDS3491.1																																																																																					0.303	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000250602.1		NM_030917		G	54257228	A	G	54257228	2	3	88	1	0	0	0	0	0	0	0	1	5909	69	3	4		4	FIP1L1	4	54257228	Silent	SNP	A	TCGA-S6-A8JY-01A-11D-A435-10		54257228	136897048	16	6141											
BMP3	651	mdanderson.org	37	chr4	81967030	81967030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccagtgtctggaggatGctcccatcatgctcagagga	8	11	12	10	0	3	1	2	0	1	1	5	4	5	4	2	3	2	2	2	3	0	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr4:81967030G>T	ENST00000282701.2	+	2	775	c.455G>T	c.(454-456)tGc>tTc	p.C152F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	152					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						TCTGGAGGATGCTCCCATCAT	0.453																																					p.C152F													.	.			0			c.G455T												127	110	116					4																	81967030		2203	4300	6503	SO:0001583	missense	651	exon2			GAGGATGCTCCCA	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.455G>T	4.37:g.81967030G>T	ENSP00000282701:p.Cys152Phe		60	0	0		49	0.06	3	NM_001201	0		0	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970353	0.34754	.	.	ENSG00000152785	ENST00000282701	T	0.74209	-0.82	5.14	5.14	0.70334	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.85787	0.1365	10	0.56958	D	0.05	.	14.8576	0.70351	0.0:0.1442:0.8558:0.0	.	152	P12645	BMP3_HUMAN	F	152	ENSP00000282701:C152F	ENSP00000282701:C152F	C	+	2	0	BMP3	82186054	1.000000	0.71417	0.790000	0.31976	0.017000	0.09413	7.319000	0.79040	2.690000	0.91761	0.655000	0.94253	TGC			0.453	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252634.1				T	81967030	G	T	81967030	3	4	88	1	0	0	0	0	1	0	0	0	1461	1319	46	2	461	2	BMP3	4	81967030	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	27709802	81967030	109187246	17	6142											
LECT2	3950	mdanderson.org	37	chr5	135287021	135287021	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacagtagatccagcagaGcacaagatgtccacaccctg	14	6	8	13	0	0	3	0	0	0	3	2	3	2	3	3	0	3	3	3	0	3	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr5:135287021G>T	ENST00000274507.1	-	3	380	c.180C>A	c.(178-180)tgC>tgA	p.C60*	LECT2_ENST00000514447.2_Nonsense_Mutation_p.C60*|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Nonsense_Mutation_p.C60*|LECT2_ENST00000512872.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	60					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)			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)			ATCCAGCAGAGCACAAGATGT	0.458																																					p.C60X													.	.			0			c.C180A												130	115	120					5																	135287021		2203	4300	6503	SO:0001587	stop_gained	3950	exon3			AGCAGAGCACAAG	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.180C>A	5.37:g.135287021G>T	ENSP00000274507:p.Cys60*		71	0	0		51	0.06	3	NM_002302	9	0	0	B2RA90|O14565|Q52M49	Nonsense_Mutation	SNP	ENST00000274507.1	37	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072322	0.36566	.	.	ENSG00000145826	ENST00000522943;ENST00000274507;ENST00000514447	.	.	.	6.07	0.122	0.14702	.	0.085466	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9418	9.6219	0.39727	0.4087:0.0:0.5913:0.0	.	.	.	.	X	60	.	ENSP00000274507:C60X	C	-	3	2	LECT2	135314920	0.009000	0.17119	0.156000	0.22583	0.153000	0.21895	-0.011000	0.12721	-0.041000	0.13558	0.650000	0.86243	TGC			0.458	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251209.1		NM_002302		T	135287021	G	T	135287021	4	4	88	1	0	0	0	0	0	1	0	0	8728	963	34	2	283	2	LECT2	5	135287021	Nonsense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		135287021	45628239	18	6143											
PCDHGA2	56113	mdanderson.org	37	chr5	140720516	140720516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccgccactgtcacgCtcaccgtggccgtggccgac	4	8	10	19	5	3	0	2	0	1	0	5	1	4	0	5	2	0	1	5	2	0	0	rs35592458	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr5:140720516C>T	ENST00000394576.2	+	1	1978	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	660	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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTCACGCTCACCGTGGC	0.687																																					p.L660F													.	.			0			c.C1978T												31	38	36					5																	140720516		2195	4282	6477	SO:0001583	missense	56113	exon1			GTCACGCTCACCG	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1978C>T	5.37:g.140720516C>T	ENSP00000378077:p.Leu660Phe		76	0	0		49	0.04	2	NM_032009	12	0	0	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.800	1.180262	0.21787	.	.	ENSG00000081853	ENST00000394576	T	0.63417	-0.04	5.14	2.01	0.26516	Cadherin (4);Cadherin-like (1);	0.226298	0.21714	U	0.070227	T	0.63908	0.2551	M	0.82630	2.6	0.19575	N	0.999962	B;B	0.32203	0.36;0.285	B;B	0.40477	0.238;0.33	T	0.61431	-0.7064	10	0.66056	D	0.02	.	3.4939	0.07648	0.1135:0.5182:0.2035:0.1648	.	660;660	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	F	660	ENSP00000378077:L660F	ENSP00000378077:L660F	L	+	1	0	PCDHGA2	140700700	0.000000	0.05858	0.862000	0.33874	0.007000	0.05969	-1.561000	0.02158	0.676000	0.31285	-0.330000	0.08379	CTC			0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374738.1		NM_018915		T	140720516	C	T	140720516	3	4	88	1	0	0	0	0	1	0	0	0	11571	797	28	2	1980	2	PCDHGA2	5	140720516	Missense_Mutation	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	5433495	140720516	40194744	19	6144											
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	12121882	12121883	+	Frame_Shift_Del	DEL	TA	TA	-																															ggagtctccaggttggagacTaatgagaattcccaccagaa																										TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	TA	TA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:12121882_12121883delTA	ENST00000379388.2	+	4	2186_2187	c.1854_1855delTA	c.(1852-1857)actaatfs	p.N619fs		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	619					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)				GGTTGGAGACTAATGAGAATTC	0.51																																					p.618_618del													HIVEP1,NS,carcinoma,0,1	HIVEP1	242		0			c.1853_1854del																																									SO:0001589	frameshift_variant	3096	exon4			GGAGACTAATGAG	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.1854_1855delTA	6.37:g.12121882_12121883delTA	ENSP00000368698:p.Asn619fs		80	0	0		90	0.29	26	NM_002114	10	0.1	1	B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Del	DEL	ENST00000379388.2	37	CCDS43426.1																																																																																					0.51	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039870.2		NM_002114		-	12121883	TA	-	12121882	7	5	88	1	0	1	0	1	0	0	0	0	7201	1509	53	0	1864	0	HIVEP1	6	12121882	Frame_Shift_Del	DEL	TA	TCGA-S6-A8JY-01A-11D-A435-10		12121882	158993185	20	6145											
SIRT5	23408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	13588626	13588626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcatcatctcaggagctgGtgttagtgcagaaagtggtg	10	11	14	6	0	3	1	3	0	1	1	4	2	3	2	0	3	2	3	0	3	2	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:13588626G>T	ENST00000606117.1	+	4	475	c.179G>T	c.(178-180)gGt>gTt	p.G60V	SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.G60V|SIRT5_ENST00000379262.4_Missense_Mutation_p.G60V	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TCAGGAGCTGGTGTTAGTGCA	0.418																																					p.G60V													.	.			0			c.G179T												113	104	107					6																	13588626		2203	4300	6503	SO:0001583	missense	23408	exon4			GAGCTGGTGTTAG	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.179G>T	6.37:g.13588626G>T	ENSP00000476228:p.Gly60Val		146	0	0		152	0.28	43	NM_012241	83	0.28	23		Missense_Mutation	SNP	ENST00000606117.1	37	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383537	0.61845	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	D;D;D	0.89343	-2.5;-2.5;-2.5	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.97201	0.9085	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	0.99505	1.0954	10	0.87932	D	0	-41.1861	17.9952	0.89181	0.0:0.0:1.0:0.0	.	60;60;60	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	V	60	ENSP00000352830:G60V;ENSP00000368564:G60V;ENSP00000368552:G60V	ENSP00000352830:G60V	G	+	2	0	SIRT5	13696605	1.000000	0.71417	0.775000	0.31657	0.223000	0.24884	9.464000	0.97655	2.335000	0.79485	0.650000	0.86243	GGT			0.418	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039908.2				T	13588626	G	T	13588626	3	4	88	1	0	0	0	0	1	0	0	0	14364	1261	44	3	185	3	SIRT5	6	13588626	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	1466744	13588626	157526441	21	6146											
SLC17A4	10050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	25777039	25777039	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgtcctcctaccccaGgggttctcttcccatccgtg	3	14	9	15	1	1	0	0	0	1	0	6	0	5	0	6	2	1	2	6	2	1	4			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:25777039G>A	ENST00000377905.4	+	10	1239		c.e10-1		SLC17A4_ENST00000439485.2_Splice_Site|SLC17A4_ENST00000397076.2_Missense_Mutation_p.G172R	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4						phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCTACCCCAGGGGTTCTCTT	0.557																																					.													SLC17A4,NS,carcinoma,-1,1	SLC17A4	-1	1	0			c.1121-1G>A												185	146	160					6																	25777039		2203	4300	6503	SO:0001630	splice_region_variant	10050	exon10			ACCCCAGGGGTTC	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1121-1G>A	6.37:g.25777039G>A			116	0	0		104	0.3	31	NM_005495	0		0	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Splice_Site	SNP	ENST00000377905.4	37	CCDS4564.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.535997|3.535997	0.64972|0.64972	.|.	.|.	ENSG00000146039|ENSG00000146039	ENST00000377905;ENST00000439485|ENST00000397076	.|T	.|0.59364	.|0.27	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70570	.|0.3239	.|.	.|.	.|.	0.39826|0.39826	D|D	0.972901|0.972901	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.70594	.|-0.4829	.|7	.|.	.|.	.|.	.|.	15.5396|15.5396	0.76031|0.76031	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|172	.|E7EU17	.|.	.|R	-1|172	.|ENSP00000380266:G172R	.|.	.|G	+|+	.|1	.|0	SLC17A4|SLC17A4	25885018|25885018	1.000000|1.000000	0.71417|0.71417	0.818000|0.818000	0.32626|0.32626	0.655000|0.655000	0.38815|0.38815	6.032000|6.032000	0.70918|0.70918	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	.|GGG			0.557	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040068.1			Intron	A	25777039	G	A	25777039	5	1	88	1	0	0	0	0	0	0	1	0	14442	1014	35	3	1154	3	SLC17A4	6	25777039	Splice_Site	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	12188413	25777039	145338028	22	6147											
GTPBP2	54676	mdanderson.org	37	chr6	43592665	43592665	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaggagcagggcgcagtcGgggcagtatgatgtgaggcc	9	5	19	8	3	0	2	0	2	0	0	1	4	0	3	1	5	1	4	1	5	1	1	rs143185915		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:43592665G>T	ENST00000307126.5	-	6	839	c.840C>A	c.(838-840)ccC>ccA	p.P280P	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.P192P	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGGCGCAGTCGGGGCAGTATG	0.582																																					p.P280P	GBM(116;405 1620 28302 32150 44768)												.	.			0			c.C840A												207	163	178					6																	43592665		2203	4300	6503	SO:0001819	synonymous_variant	54676	exon6			GCAGTCGGGGCAG	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.840C>A	6.37:g.43592665G>T			81	0	0		48	0.06	3	NM_019096	224	0	0		Silent	SNP	ENST00000307126.5	37	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	G	6.198	0.404621	0.11754	.	.	ENSG00000172432	ENST00000442748	T	0.70869	-0.52	5.22	-9.22	0.00675	.	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82886	-0.0235	7	0.87932	D	0	-12.8674	16.035	0.80621	0.0997:0.0:0.7127:0.1876	.	.	.	.	Q	246	ENSP00000411358:P246Q	ENSP00000411358:P246Q	P	-	2	0	GTPBP2	43700643	0.000000	0.05858	0.465000	0.27155	0.958000	0.62258	-4.491000	0.00225	-2.156000	0.00790	-0.474000	0.04947	CCG			0.582	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040679.1				T	43592665	G	T	43592665	2	4	88	1	0	0	0	0	0	0	0	1	6895	1103	39	1		1	GTPBP2	6	43592665	Silent	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	17815626	43592665	127522402	23	6148											
C7orf51	222950	mdanderson.org	37	chr7	100086571	100086571	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccggagccactcgacaccGttgccaccccagggctctgg	6	5	12	18	3	1	0	0	0	1	0	2	2	1	1	6	3	2	2	6	3	0	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr7:100086571G>A	ENST00000300179.2	+	4	1386	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	NYAP1_ENST00000454988.1_Silent_p.P352P|NYAP1_ENST00000423930.1_Silent_p.P409P	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	409	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACTCGACACCGTTGCCACCCC	0.751																																					p.P409P													.	.			0			c.G1227A												9	12	11					7																	100086571		2003	4023	6026	SO:0001819	synonymous_variant	222950	exon4			GACACCGTTGCCA	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.1227G>A	7.37:g.100086571G>A			22	0	0		31	0.1	3	NM_173564	20	0	0	Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	CCDS5696.1																																																																																					0.751	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339335.2		NM_173564		A	100086571	G	A	100086571	2	1	88	1	0	0	0	0	0	0	0	1	2402	1132	40	1		1	C7orf51	7	100086571	Silent	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		100086571	59052092	24	6149											
RELN	5649	mdanderson.org	37	chr7	103275912	103275912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgaataatgctccaggaGtttccaagttatcccattat	13	14	6	8	0	0	1	0	1	0	0	3	2	3	2	3	1	1	3	3	1	6	5			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr7:103275912G>T	ENST00000428762.1	-	19	2584	c.2425C>A	c.(2425-2427)Ctc>Atc	p.L809I	RELN_ENST00000424685.2_Missense_Mutation_p.L809I|RELN_ENST00000343529.5_Missense_Mutation_p.L809I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	809					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)		TGCTCCAGGAGTTTCCAAGTT	0.433																																					p.L809I	NSCLC(146;835 1944 15585 22231 52158)												.	.			0			c.C2425A												90	94	92					7																	103275912		2203	4300	6503	SO:0001583	missense	5649	exon19			CCAGGAGTTTCCA		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.2425C>A	7.37:g.103275912G>T	ENSP00000392423:p.Leu809Ile		31	0	0		43	0.07	3	NM_005045	1	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676626	0.88445	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26223	1.75;1.75;1.75	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	T	0.54159	0.1841	M	0.72353	2.195	0.58432	D	0.999998	D;D	0.76494	0.999;0.982	D;D	0.79784	0.993;0.952	T	0.49799	-0.8901	10	0.62326	D	0.03	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	809;809	P78509-2;P78509	.;RELN_HUMAN	I	809	ENSP00000392423:L809I;ENSP00000345694:L809I;ENSP00000388446:L809I	ENSP00000345694:L809I	L	-	1	0	RELN	103063148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.894000	0.99253	0.591000	0.81541	CTC			0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000348148.1		NM_005045		T	103275912	G	T	103275912	3	4	88	1	0	0	0	0	1	0	0	0	13243	1029	36	3	8145	3	RELN	7	103275912	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	3189341	103275912	55862751	25	6150											
CPSF1	29894	mdanderson.org	37	chr8	145622524	145622524	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctccctgcgggcctcGccctgtgtagtgggctgtcc	1	10	13	17	2	0	0	0	0	0	0	4	0	3	0	6	2	1	2	6	2	1	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr8:145622524G>T	ENST00000349769.3	-	23	2584	c.2490C>A	c.(2488-2490)ggC>ggA	p.G830G	CPSF1_ENST00000531727.1_5'Flank|MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	830					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCGGGCCTCGCCCTGTGTAG	0.687																																					p.G830G	NSCLC(133;1088 1848 27708 34777 35269)												.	.			0			c.C2490A												9	9	9					8																	145622524		2150	4222	6372	SO:0001819	synonymous_variant	29894	exon23			GGCCTCGCCCTGT	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2490C>A	8.37:g.145622524G>T			51	0	0		38	0.11	4	NM_013291	229	0	0	Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																					0.687	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291		T	145622524	G	T	145622524	2	4	88	1	0	0	0	0	0	0	0	1	3826	1074	38	1		1	CPSF1	8	145622524	Silent	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		145622524	741498	26	6151											
KIAA1797	54914	mdanderson.org	37	chr9	20948910	20948910	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggccttggtaggctctGaaggggatgtaatgcaggta	8	11	17	5	0	1	1	0	1	1	0	1	2	1	2	1	7	1	5	1	7	4	4			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr9:20948910G>T	ENST00000380249.1	+	34	4223	c.3859G>T	c.(3859-3861)Gaa>Taa	p.E1287*	FOCAD_ENST00000605086.1_Nonsense_Mutation_p.E723*|FOCAD_ENST00000338382.6_Nonsense_Mutation_p.E1287*	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1287						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GGTAGGCTCTGAAGGGGATGT	0.453																																					p.E1287X													.	.			0			c.G3859T												111	109	109					9																	20948910		2203	4300	6503	SO:0001587	stop_gained	54914	exon34			GGCTCTGAAGGGG	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.3859G>T	9.37:g.20948910G>T	ENSP00000369599:p.Glu1287*		75	0	0		43	0.07	3	NM_017794	97	0	0	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Nonsense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	46	12.408389	0.99665	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.82	5.82	0.92795	.	0.045080	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-21.0228	18.8715	0.92317	0.0:0.0:1.0:0.0	.	.	.	.	X	1287	.	ENSP00000344307:E1287X	E	+	1	0	KIAA1797	20938910	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.910000	0.75741	2.760000	0.94817	0.655000	0.94253	GAA			0.453	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143442.1		NM_017794		T	20948910	G	T	20948910	4	4	88	1	0	0	0	0	0	1	0	0	8273	1291	45	3	3981	3	KIAA1797	9	20948910	Nonsense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		20948910	120264521	27	6152											
CRB2	286204	mdanderson.org	37	chr9	126125220	126125220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagtgccaggctaccgaGagtggtggctatacctgtgg	8	8	15	10	2	0	1	0	0	0	1	0	3	0	1	4	4	3	2	4	4	3	3			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr9:126125220G>T	ENST00000373631.3	+	2	172	c.171G>T	c.(169-171)gaG>gaT	p.E57D	CRB2_ENST00000359999.3_Missense_Mutation_p.E57D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	57					cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGGCTACCGAGAGTGGTGGCT	0.667																																					p.E57D													.	.			0			c.G171T												45	48	47					9																	126125220		2200	4300	6500	SO:0001583	missense	286204	exon2			TACCGAGAGTGGT	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.171G>T	9.37:g.126125220G>T	ENSP00000362734:p.Glu57Asp		57	0	0		38	0.08	3	NM_173689	0		0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	7.918	0.737986	0.15574	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.86497	-2.13;-2.02	4.7	-1.29	0.09288	.	0.743926	0.11456	N	0.562271	T	0.68412	0.2998	N	0.11651	0.15	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.53549	-0.8423	10	0.13108	T	0.6	.	5.6282	0.17495	0.0776:0.3798:0.4128:0.1299	.	57;57	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	D	57	ENSP00000353092:E57D;ENSP00000362734:E57D	ENSP00000353092:E57D	E	+	3	2	CRB2	125165041	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.188000	0.09642	-0.082000	0.12640	-0.537000	0.04273	GAG			0.667	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053990.3		NM_173689		T	126125220	G	T	126125220	3	4	88	1	0	0	0	0	1	0	0	0	3851	933	33	3	177	3	CRB2	9	126125220	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	105176310	126125220	15088211	28	6153											
TRUB2	26995	mdanderson.org	37	chr9	131073824	131073824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatcaccagggccttctGatgggagccttggataacgg	9	9	12	11	1	3	1	2	1	1	0	3	3	3	3	3	4	2	0	3	4	1	3			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr9:131073824G>T	ENST00000372890.4	-	6	850	c.517C>A	c.(517-519)Cag>Aag	p.Q173K	TRUB2_ENST00000546104.1_Missense_Mutation_p.Q117K|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	173					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGGGCCTTCTGATGGGAGCCT	0.587																																					p.Q173K													.	.			0			c.C517A												109	94	99					9																	131073824		2203	4300	6503	SO:0001583	missense	26995	exon6			CCTTCTGATGGGA	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.517C>A	9.37:g.131073824G>T	ENSP00000361982:p.Gln173Lys		99	0	0		49	0.06	3	NM_015679	120	0	0	B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105358	0.94245	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.50001	0.76;0.76	5.58	5.58	0.84498	Pseudouridine synthase, catalytic domain (1);	0.113633	0.64402	D	0.000009	T	0.65544	0.2701	L	0.54323	1.7	0.58432	D	0.999998	D	0.76494	0.999	D	0.74023	0.982	T	0.61729	-0.7003	10	0.39692	T	0.17	-25.4849	19.5636	0.95384	0.0:0.0:1.0:0.0	.	173	O95900	TRUB2_HUMAN	K	173;117	ENSP00000361982:Q173K;ENSP00000438084:Q117K	ENSP00000361982:Q173K	Q	-	1	0	TRUB2	130113645	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.221000	0.72243	2.616000	0.88540	0.561000	0.74099	CAG			0.587	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054419.1		NM_015679		T	131073824	G	T	131073824	3	4	88	1	0	0	0	0	1	0	0	0	16627	1299	45	3	490	3	TRUB2	9	131073824	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	4948604	131073824	10139607	29	6154											
RAPGEF1	2889	mdanderson.org	37	chr9	134503405	134503405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgctgctgcagggggAgaggcggggcgactctccac	6	6	17	12	2	1	1	0	0	1	1	2	3	1	1	2	5	3	3	2	5	1	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr9:134503405A>G	ENST00000372189.3	-	9	1168	c.1045T>C	c.(1045-1047)Tcc>Ccc	p.S349P	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S367P|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.S366P	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	349					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)		CTGCAGGGGGAGAGGCGGGGC	0.552																																					p.S367P													.	.			0			c.T1099C												31	35	33					9																	134503405		2140	4240	6380	SO:0001583	missense	2889	exon9			AGGGGGAGAGGCG	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.1045T>C	9.37:g.134503405A>G	ENSP00000361263:p.Ser349Pro		34	0	0		23	0.09	2	NM_198679	122	0	0	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636892	0.87760	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.48201	0.82;0.82;0.82	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.64997	1.995	0.52501	D	0.999952	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.993;0.993;0.997	T	0.67768	-0.5585	10	0.56958	D	0.05	.	14.1451	0.65347	1.0:0.0:0.0:0.0	.	366;349;367	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	P	349;366;243;349;367;329;275;44;366	ENSP00000361269:S366P;ENSP00000361263:S349P;ENSP00000361264:S367P	ENSP00000266110:S349P	S	-	1	0	RAPGEF1	133493226	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.665000	0.91144	1.936000	0.56123	0.482000	0.46254	TCC			0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054759.2		NM_005312		G	134503405	A	G	134503405	3	3	88	1	0	0	0	0	1	0	0	0	13066	304	11	4	2252	4	RAPGEF1	9	134503405	Missense_Mutation	SNP	A	TCGA-S6-A8JY-01A-11D-A435-10	3429581	134503405	6710026	30	6155											
AKR1C4	1109	hgsc.bcm.edu	37	chr10	5242213	5242213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttccgccatattgattctGcttatttatacaataatgag	11	16	6	8	1	1	2	0	2	1	0	2	2	2	2	2	0	2	2	2	0	6	9			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr10:5242213G>T	ENST00000380448.1	+	4	407	c.154G>T	c.(154-156)Gct>Tct	p.A52S	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.A52S			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	52					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TATTGATTCTGCTTATTTATA	0.443																																					p.A52S													.	.			0			c.G154T												119	105	110					10																	5242213		2203	4300	6503	SO:0001583	missense	1109	exon2			GATTCTGCTTATT	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.154G>T	10.37:g.5242213G>T	ENSP00000369814:p.Ala52Ser		105	0	0		105	0.05	5	NM_001818	0		0	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497109	0.64186	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.79554	-1.28;-1.28	3.32	2.37	0.29283	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.102366	0.40302	N	0.001128	D	0.88415	0.6430	M	0.89601	3.045	0.25984	N	0.982334	P	0.40660	0.726	P	0.55345	0.774	T	0.81512	-0.0899	10	0.62326	D	0.03	.	9.8732	0.41187	0.0:0.0:0.795:0.205	.	52	P17516	AK1C4_HUMAN	S	52	ENSP00000369814:A52S;ENSP00000263126:A52S	ENSP00000263126:A52S	A	+	1	0	AKR1C4	5232213	1.000000	0.71417	0.002000	0.10522	0.196000	0.23810	6.134000	0.71689	0.453000	0.26858	0.591000	0.81541	GCT			0.443	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046543.2		NM_001818		T	5242213	G	T	5242213	3	4	88	1	0	0	0	0	1	0	0	0	472	1319	46	2	160	2	AKR1C4	10	5242213	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		5242213	130292534	31	6156											
ABCC2	1244	hgsc.bcm.edu;mdanderson.org	37	chr10	101563999	101563999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtaatcccaattaatgCgatactgtccaccaagagta	13	11	7	10	1	0	1	0	0	0	1	2	2	2	1	3	0	2	3	3	0	6	5	rs201399138		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr10:101563999C>T	ENST00000370449.4	+	10	1546	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	478	ABC transmembrane type-1 1. {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)	p.A478V(2)		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)	CCAATTAATGCGATACTGTCC	0.403													C|||	1	0.000199681	0	0	5008	,	,		22246	0		0	False		,,,				2504	0.001				p.A478V													ABCC2,NS,carcinoma,0,2	ABCC2	0	2	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C1433T												180	166	171					10																	101563999		2203	4300	6503	SO:0001583	missense	1244	exon10			TTAATGCGATACT	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.1433C>T	10.37:g.101563999C>T	ENSP00000359478:p.Ala478Val		102	0	0		80	0.05	4	NM_000392	1	0	0	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081611	0.36758	.	.	ENSG00000023839	ENST00000370449	D	0.90069	-2.61	5.41	-3.68	0.04463	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.260242	0.44688	D	0.000427	D	0.83445	0.5256	L	0.33093	0.98	0.80722	D	1	P	0.38729	0.644	B	0.39152	0.292	T	0.78471	-0.2191	10	0.66056	D	0.02	-9.3788	20.0389	0.97573	0.0575:0.6481:0.2944:0.0	.	478	Q92887	MRP2_HUMAN	V	478	ENSP00000359478:A478V	ENSP00000359478:A478V	A	+	2	0	ABCC2	101553989	0.002000	0.14202	0.013000	0.15412	0.761000	0.43186	-0.042000	0.12063	-0.442000	0.07190	-1.286000	0.01371	GCG	0.001		0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049825.1		NM_000392		T	101563999	C	T	101563999	3	4	88	1	0	0	0	0	1	0	0	0	53	768	27	1	1471	1	ABCC2	10	101563999	Missense_Mutation	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	96321786	101563999	33970748	32	6157											
C10orf2	56652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	102753124	102753124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaagaacaaggcccggCtcaagaagatcaaggatgac	17	3	10	11	1	2	4	2	1	0	3	2	5	2	5	2	3	1	1	2	3	6	0			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr10:102753124C>G	ENST00000311916.2	+	5	2097	c.1912C>G	c.(1912-1914)Ctc>Gtc	p.L638V	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	638					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAAGGCCCGGCTCAAGAAGAT	0.522																																					p.L638V													.	.			0			c.C1912G												122	128	126					10																	102753124		2203	4300	6503	SO:0001583	missense	56652	exon5			GCCCGGCTCAAGA	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1912C>G	10.37:g.102753124C>G	ENSP00000309595:p.Leu638Val		111	0	0		134	0.34	46	NM_021830	203	0.34	70	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930364	0.34096	.	.	ENSG00000107815	ENST00000311916	D	0.93906	-3.31	5.7	5.7	0.88788	.	0.068956	0.64402	D	0.000014	D	0.90978	0.7163	L	0.59436	1.845	0.80722	D	1	B	0.22276	0.067	B	0.18263	0.021	D	0.86830	0.2010	9	.	.	.	-8.2164	14.425	0.67210	0.0:0.8528:0.1472:0.0	.	638	Q96RR1	PEO1_HUMAN	V	638	ENSP00000309595:L638V	.	L	+	1	0	C10orf2	102743114	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.723000	0.47277	2.695000	0.91970	0.455000	0.32223	CTC			0.522	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049886.1		NM_021830		G	102753124	C	G	102753124	3	3	88	1	0	0	0	0	1	0	0	0	1599	797	28	5	1945	5	C10orf2	10	102753124	Missense_Mutation	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	1189125	102753124	32781623	33	6158											
OR52I2	143502	broad.mit.edu;mdanderson.org	37	chr11	4608061	4608061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgtgtcaacaaatcttaCgggattgcattcttctcata	12	14	6	9	1	4	0	2	0	3	0	5	1	4	1	0	1	3	1	0	1	4	5	rs200571706		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:4608061C>T	ENST00000312614.4	+	1	41	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	7						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(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAATCTTACGGGATTGCAT	0.413																																					p.R7W													OR52I2,caecum,carcinoma,0,1	OR52I2	50	1	0			c.C19T							C	TRP/ARG	0,4402		0,0,2201	71	60	64		19	-2.5	0	11		64	1,8595	1.2+/-3.3	0,1,4297	yes	missense	OR52I2	NM_001005170.2	101	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	7/351	4608061	1,12997	2201	4298	6499	SO:0001583	missense	143502	exon1			ATCTTACGGGATT	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.19C>T	11.37:g.4608061C>T	ENSP00000308764:p.Arg7Trp		94	0	0		68	0.06	4	NM_001005170	0		0	B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	7.398	0.632184	0.14322	0.0	1.16E-4	ENSG00000226288	ENST00000312614	T	0.00622	6.16	3.33	-2.54	0.06307	.	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46569	-0.9182	9	0.62326	D	0.03	.	0.9005	0.01273	0.1645:0.2588:0.1619:0.4148	.	7	Q8NH67	O52I2_HUMAN	W	7	ENSP00000308764:R7W	ENSP00000308764:R7W	R	+	1	2	OR52I2	4564637	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.358000	0.07641	-0.742000	0.04790	-0.319000	0.08680	CGG			0.413	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385946.1		NM_001005170		T	4608061	C	T	4608061	3	4	88	1	0	0	0	0	1	0	0	0	11138	527	19	1	21	1	OR52I2	11	4608061	Missense_Mutation	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10		4608061	130398455	34	6159											
ABTB2	25841	mdanderson.org	37	chr11	34186251	34186251	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggccgtgggcagctGagtggctgaagcagttcatg	7	9	16	9	1	1	2	1	2	0	0	1	2	1	2	2	3	2	5	2	3	1	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:34186251G>T	ENST00000435224.2	-	9	2394	c.1970C>A	c.(1969-1971)tCa>tAa	p.S657*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.S471*	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	657					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTGGGCAGCTGAGTGGCTGAA	0.632																																					p.S657X													.	.			0			c.C1970A												68	55	59					11																	34186251		2202	4297	6499	SO:0001587	stop_gained	25841	exon9			GCAGCTGAGTGGC	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1970C>A	11.37:g.34186251G>T	ENSP00000410157:p.Ser657*		70	0	0		47	0.06	3	NM_145804	1	0	0	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Nonsense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	44	10.665454	0.99446	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.57	5.57	0.84162	.	0.062114	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.8983	19.5344	0.95244	0.0:0.0:1.0:0.0	.	.	.	.	X	657;471	.	ENSP00000298992:S471X	S	-	2	0	ABTB2	34142827	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.858000	0.99539	2.618000	0.88619	0.561000	0.74099	TCA			0.632	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388703.3		NM_145804		T	34186251	G	T	34186251	4	4	88	1	0	0	0	0	0	1	0	0	103	1294	45	3	1143	3	ABTB2	11	34186251	Nonsense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	29578190	34186251	100820265	35	6160											
PHF21A	51317	mdanderson.org	37	chr11	45955621	45955621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagggggggtgcagtcCgggccattggagatggcccc	5	7	19	10	1	0	1	0	0	0	1	1	2	1	1	4	7	1	2	4	7	0	2	rs199802844	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:45955621C>T	ENST00000418153.2	-	18	2140	c.1941G>A	c.(1939-1941)ccG>ccA	p.P647P	PHF21A_ENST00000323180.6_Silent_p.P601P|PHF21A_ENST00000257821.4_Silent_p.P648P			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	647	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						GGGTGCAGTCCGGGCCATTGG	0.617													C|||	2	0.000399361	8e-04	0	5008	,	,		13410	0.001		0	False		,,,				2504	0				p.P647P													.	.			0			c.G1941A							C	,	0,4404		0,0,2202	36	43	40		1941,1803	2.4	1	11		40	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	PHF21A	NM_001101802.1,NM_016621.3	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	647/681,601/635	45955621	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	51317	exon18			GCAGTCCGGGCCA	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.1941G>A	11.37:g.45955621C>T			61	0	0		42	0.07	3	NM_001101802	93	0	0	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1																																																																																			0.001		0.617	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000392583.1		NM_016621		T	45955621	C	T	45955621	2	4	88	1	0	0	0	0	0	0	0	1	11850	639	23	1		1	PHF21A	11	45955621	Silent	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	11769370	45955621	89050895	36	6161											
MAP3K11	399909	mdanderson.org	37	chr11	65380778	65380778	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacactgatgtcctcatcGgggtcctggcgagctgcctt	5	11	12	13	2	2	1	2	1	0	0	5	2	4	1	3	3	2	1	3	3	0	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:65380778G>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Silent_p.P150P|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGTCCTCATCGGGGTCCTGGC	0.637																																					p.P150P													.	.			0			c.C450A																																									SO:0001631	upstream_gene_variant	4296	exon1			CTCATCGGGGTCC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380778G>T	Exception_encountered		72	0	0		42	0.07	3	NM_002419	60	0	0	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																					0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390321.1		NM_032223		T	65380778	G	T	65380778	1	4	88	0	1	0	0	0	0	0	0	0	9261	1103	39	1		1	MAP3K11	11	65380778	5'Flank	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	19425157	65380778	69625738	37	6162											
KRTAP5-7	440050	ucsc.edu	37	chr11	71238418	71238418	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccggctgtgggggctgTggctctggctgtgggggatg	1	10	22	8	1	1	0	0	0	1	0	2	1	2	1	1	8	0	5	1	8	0	0	rs201675734	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:71238418T>C	ENST00000398536.4	+	1	106	c.72T>C	c.(70-72)tgT>tgC	p.C24C		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	24						keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GTGGGGGCTGTGGCTCTGGCT	0.662																																					p.C24C													.	KRTAP5-7	23		0			c.T72C												59	78	72					11																	71238418		2194	4284	6478	SO:0001819	synonymous_variant	440050	exon1			GGGCTGTGGCTCT	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.72T>C	11.37:g.71238418T>C			156	0.0833333333	13		118	0.21	25	NM_001012503	0		0	B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	CCDS41682.1																																																																																					0.662	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127953.1				C	71238418	T	C	71238418	2	2	88	1	0	0	0	0	0	0	0	1	8581	1702	59	4		4	KRTAP5-7	11	71238418	Silent	SNP	T	TCGA-S6-A8JY-01A-11D-A435-10	5857640	71238418	63768098	38	6163											
BUD13	84811	mdanderson.org	37	chr11	116633328	116633328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttgcttttttcgtggaGgagagatgtcagggtcatac	7	15	13	6	1	2	1	2	0	0	1	3	4	2	3	0	3	3	2	0	3	1	6			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:116633328G>T	ENST00000260210.4	-	4	1000	c.977C>A	c.(976-978)cCt>cAt	p.P326H	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	326					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	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;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTTTCGTGGAGGAGAGATGTC	0.453																																					p.P326H													.	.			0			c.C977A												151	137	141					11																	116633328		2201	4296	6497	SO:0001583	missense	84811	exon4			CGTGGAGGAGAGA	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.977C>A	11.37:g.116633328G>T	ENSP00000260210:p.Pro326His		111	0	0		48	0.06	3	NM_032725	32	0	0	A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880436	0.72294	.	.	ENSG00000137656	ENST00000260210	T	0.20598	2.06	5.08	5.08	0.68730	.	0.048030	0.85682	D	0.000000	T	0.40171	0.1106	M	0.86864	2.845	0.58432	D	0.999997	D;D	0.61080	0.989;0.989	P;P	0.52309	0.695;0.695	T	0.44967	-0.9293	10	0.87932	D	0	-12.1406	10.7395	0.46145	0.0867:0.0:0.9133:0.0	.	326;326	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	H	326	ENSP00000260210:P326H	ENSP00000260210:P326H	P	-	2	0	BUD13	116138538	0.993000	0.37304	0.999000	0.59377	0.964000	0.63967	2.285000	0.43487	2.631000	0.89168	0.655000	0.94253	CCT			0.453	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000104864.1		NM_032725		T	116633328	G	T	116633328	3	4	88	1	0	0	0	0	1	0	0	0	1575	1000	35	3	910	3	BUD13	11	116633328	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	45394910	116633328	18373188	39	6164											
VWA5A	4013	mdanderson.org	37	chr11	123988930	123988930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagaaagccatctcccaggGccaccaggccttcttattgg	9	9	10	13	0	2	1	0	1	2	1	3	2	2	1	5	3	1	0	5	3	2	3			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:123988930G>T	ENST00000456829.2	+	5	532	c.281G>T	c.(280-282)gGc>gTc	p.G94V	VWA5A_ENST00000449321.1_Missense_Mutation_p.G94V|VWA5A_ENST00000360334.4_Missense_Mutation_p.G94V|VWA5A_ENST00000392744.4_Missense_Mutation_p.G110V|VWA5A_ENST00000361352.5_Missense_Mutation_p.G94V|VWA5A_ENST00000392748.1_Missense_Mutation_p.G94V	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	94	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATCTCCCAGGGCCACCAGGCC	0.567																																					p.G94V													.	.			0			c.G281T												52	54	53					11																	123988930		2201	4299	6500	SO:0001583	missense	4013	exon4			CCCAGGGCCACCA	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.281G>T	11.37:g.123988930G>T	ENSP00000407726:p.Gly94Val		171	0	0		69	0.07	5	NM_014622	5	0	0	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509961	0.85282	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.74	5.74	0.90152	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.046466	0.85682	D	0.000000	T	0.75766	0.3894	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.82981	-0.0187	10	0.87932	D	0	-15.7036	17.4029	0.87465	0.0:0.0:1.0:0.0	.	110;94	B4DHS6;O00534	.;VMA5A_HUMAN	V	94;94;94;94;94;94;94;110	ENSP00000407726:G94V;ENSP00000353485:G94V;ENSP00000376504:G94V;ENSP00000355070:G94V;ENSP00000404683:G94V;ENSP00000376501:G110V	ENSP00000353485:G94V	G	+	2	0	VWA5A	123494140	1.000000	0.71417	0.075000	0.20258	0.825000	0.46686	8.046000	0.89438	2.709000	0.92574	0.655000	0.94253	GGC			0.567	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387273.1		NM_014622		T	123988930	G	T	123988930	3	4	88	1	0	0	0	0	1	0	0	0	17266	1203	42	2	291	2	VWA5A	11	123988930	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	7355602	123988930	11017586	40	6165											
GLB1L2	89944	mdanderson.org	37	chr11	134238570	134238570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtctgccattgtggacGccggctcctccatcaacctc	5	10	9	17	3	2	0	1	0	1	0	5	1	4	1	6	2	2	1	6	2	1	1	rs148929536		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:134238570G>T	ENST00000535456.2	+	10	1110	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	GLB1L2_ENST00000339772.7_Missense_Mutation_p.A308S|GLB1L2_ENST00000389881.3_Missense_Mutation_p.A308S|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	308					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CATTGTGGACGCCGGCTCCTC	0.532																																					p.A308S													.	.			0			c.G922T												86	79	81					11																	134238570		2201	4297	6498	SO:0001583	missense	89944	exon10			GTGGACGCCGGCT		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.922G>T	11.37:g.134238570G>T	ENSP00000444628:p.Ala308Ser		68	0	0		17	0.12	2	NM_138342	11	0	0	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.046|8.046	0.765037|0.765037	0.15914|0.15914	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089;ENST00000533324	D;D;D|.	0.98060|.	-4.69;-4.69;-4.69|.	5.19|5.19	3.06|3.06	0.35304|0.35304	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.609697|.	0.16373|.	N|.	0.217226|.	T|T	0.25644|0.25644	0.0624|0.0624	L|L	0.38733|0.38733	1.17|1.17	0.09310|0.09310	N|N	1|1	B|.	0.21309|.	0.054|.	B|.	0.22386|.	0.039|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.22706|.	T|.	0.39|.	-5.6342|-5.6342	0.7026|0.7026	0.00910|0.00910	0.2398:0.1849:0.3842:0.191|0.2398:0.1849:0.3842:0.191	.|.	308|.	Q8IW92|.	GLBL2_HUMAN|.	S|L	308|246;135	ENSP00000344659:A308S;ENSP00000444628:A308S;ENSP00000374531:A308S|.	ENSP00000344659:A308S|.	A|R	+|+	1|2	0|0	GLB1L2|GLB1L2	133743780|133743780	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.082000|0.082000	0.17680|0.17680	0.379000|0.379000	0.20585|0.20585	1.179000|1.179000	0.42884|0.42884	-0.140000|-0.140000	0.14226|0.14226	GCC|CGC			0.532	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393629.2		NM_138342		T	134238570	G	T	134238570	3	4	88	1	0	0	0	0	1	0	0	0	6443	1087	38	1	960	1	GLB1L2	11	134238570	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	10249640	134238570	767946	41	6166											
ITPR2	3709	broad.mit.edu	37	chr12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-																															caattcattgtcatcgtcccTttttttgttacctaaatcta																										TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)aggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					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)	TCATCGTCCCTTTTTTTGTTA	0.358																																					p.R1837fs													.	ITPR2	270		0			c.5509delA												206	188	193					12																	26640046		1860	4102	5962	SO:0001589	frameshift_variant	3709	exon40			CGTCCCTTTTTTT	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.5509delA	12.37:g.26640046delT	ENSP00000370744:p.Arg1837fs		140	0	0		1267	0.01	7	NM_002223	94	0	0	O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	CCDS41764.1																																																																																					0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402732.1		NM_002223		-	26640046	T	-	26640046	7	5	88	1	0	1	0	1	0	0	0	0	7936	1608	56	0	2668	0	ITPR2	12	26640046	Frame_Shift_Del	DEL	T	TCGA-S6-A8JY-01A-11D-A435-10		26640046	107211849	42	6167											
ARNTL2	56938	broad.mit.edu	37	chr12	27543058	27543058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttcacagtaatctccacGctggaaggacacgtgtgtat	12	10	10	9	2	2	0	1	0	1	0	3	2	2	2	1	2	0	4	1	2	4	3			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:27543058G>T	ENST00000266503.5	+	9	823	c.805G>T	c.(805-807)Gct>Tct	p.A269S	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Missense_Mutation_p.A232S|ARNTL2_ENST00000261178.5_Missense_Mutation_p.A221S|ARNTL2_ENST00000544915.1_Missense_Mutation_p.A235S|ARNTL2_ENST00000311001.5_Missense_Mutation_p.A255S|ARNTL2_ENST00000395901.2_Missense_Mutation_p.A232S|ARNTL2_ENST00000542388.1_Missense_Mutation_p.A184S			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	269					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TAATCTCCACGCTGGAAGGAC	0.408																																					p.A269S													.	ARNTL2	54		0			c.G805T												160	156	158					12																	27543058		2203	4300	6503	SO:0001583	missense	56938	exon9			CTCCACGCTGGAA	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.805G>T	12.37:g.27543058G>T	ENSP00000266503:p.Ala269Ser		125	0	0		1142	0.01	6	NM_020183	422	0	0	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	A	7.130	0.579626	0.13686	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	T;T;T;T;T;T;T	0.06528	3.43;3.43;3.29;3.42;3.42;3.43;3.43	3.55	1.11	0.20524	.	0.602903	0.16510	N	0.211289	T	0.06416	0.0165	L	0.58428	1.81	0.09310	N	1	B;B;B;B;B;B	0.17852	0.024;0.003;0.014;0.014;0.001;0.003	B;B;B;B;B;B	0.16289	0.015;0.006;0.015;0.015;0.004;0.01	T	0.46062	-0.9218	10	0.12430	T	0.62	.	7.7606	0.28951	0.4682:0.0:0.5318:0.0	.	232;235;232;221;255;269	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	S	235;232;232;255;221;269;184	ENSP00000442438:A235S;ENSP00000379238:A232S;ENSP00000438545:A232S;ENSP00000312247:A255S;ENSP00000261178:A221S;ENSP00000266503:A269S;ENSP00000445836:A184S	ENSP00000261178:A221S	A	+	1	0	ARNTL2	27434325	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.122000	0.10627	-0.146000	0.11274	-0.982000	0.02568	GCT			0.408	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000403162.1		NM_020183		T	27543058	G	T	27543058	3	4	88	1	0	0	0	0	1	0	0	0	968	1087	38	1	839	1	ARNTL2	12	27543058	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	903012	27543058	106308837	43	6168											
DDX11	1663	broad.mit.edu	37	chr12	31238044	31238044	+	Frame_Shift_Del	DEL	A	A	-																															aatacgagagtgatgaggagAaaaaggtggcgagcaggtga																										TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:31238044delA	ENST00000407793.2	+	5	873	c.622delA	c.(622-624)aaafs	p.K209fs	DDX11_ENST00000251758.5_Frame_Shift_Del_p.K209fs|DDX11_ENST00000545668.1_Frame_Shift_Del_p.K209fs|DDX11_ENST00000350437.4_Frame_Shift_Del_p.K209fs|DDX11_ENST00000542838.1_Frame_Shift_Del_p.K209fs|DDX11_ENST00000228264.6_Frame_Shift_Del_p.K183fs	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	209	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGAGGAGAAAAAGGTGGC	0.617										Multiple Myeloma(12;0.14)																											p.K208fs													.	DDX11	188		0			c.622delA												31	31	31					12																	31238044		2194	4282	6476	SO:0001589	frameshift_variant	1663	exon5			GAGGAGAAAAAGG	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.622delA	12.37:g.31238044delA	ENSP00000384703:p.Lys209fs		307	0	0		1932	0	8	NM_030653	1067	0	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Del	DEL	ENST00000407793.2	37	CCDS44856.1																																																																																					0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653		-	31238044	A	-	31238044	7	5	88	1	0	1	0	1	0	0	0	0	4345	247	9	0	636	0	DDX11	12	31238044	Frame_Shift_Del	DEL	A	TCGA-S6-A8JY-01A-11D-A435-10	3694986	31238044	102613851	44	6169											
CPSF6	11052	mdanderson.org	37	chr12	69653285	69653285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaaatagggcaatctcaaGcagtgctatttcgagagctg	13	10	11	7	1	1	2	1	0	1	2	3	3	1	2	0	1	3	4	0	1	6	4			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:69653285G>T	ENST00000435070.2	+	7	1387	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.S353I|CPSF6_ENST00000266679.8_Missense_Mutation_p.S463I	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	426					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)			GCAATCTCAAGCAGTGCTATT	0.343																																					p.S426I													.	.			0			c.G1277T												192	187	189					12																	69653285		2203	4300	6503	SO:0001583	missense	11052	exon7			TCTCAAGCAGTGC	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.1277G>T	12.37:g.69653285G>T	ENSP00000391774:p.Ser426Ile		50	0	0		49	0.06	3	NM_007007	339	0	0	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317285	0.60524	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.88354	-2.37;-2.37;-2.37	5.57	5.57	0.84162	.	0.077095	0.85682	D	0.000000	D	0.93989	0.8075	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.999;0.999;0.979	D	0.92865	0.6309	9	.	.	.	-7.324	19.94	0.97155	0.0:0.0:1.0:0.0	.	174;463;426	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	I	426;353;463	ENSP00000391774:S426I;ENSP00000391437:S353I;ENSP00000266679:S463I	.	S	+	2	0	CPSF6	67939552	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.515000	0.81761	2.793000	0.96121	0.563000	0.77884	AGC			0.343	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403609.1		NM_007007		T	69653285	G	T	69653285	3	4	88	1	0	0	0	0	1	0	0	0	3831	971	34	2	1303	2	CPSF6	12	69653285	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	38415241	69653285	64198610	45	6170											
DDX54	79039	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	113617043	113617043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgtgggtcttgagccGctcgaacattgggaggagga	8	8	17	8	2	1	1	0	1	1	0	2	5	1	4	1	5	2	2	1	5	1	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:113617043G>A	ENST00000306014.5	-	4	496	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Missense_Mutation_p.R157W	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	157	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCTTGAGCCGCTCGAACATT	0.647																																					p.R157W													DDX54,NS,carcinoma,0,1	DDX54	0	1	0			c.C469T												43	42	42					12																	113617043		2203	4300	6503	SO:0001583	missense	79039	exon4			TGAGCCGCTCGAA	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.469C>T	12.37:g.113617043G>A	ENSP00000304072:p.Arg157Trp		68	0	0		66	0.29	19	NM_024072	231	0.36	83	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244711	0.79912	.	.	ENSG00000123064	ENST00000314045;ENST00000306014;ENST00000552375	T;T;T	0.15952	2.38;2.38;2.38	5.48	3.45	0.39498	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.186306	0.43919	D	0.000516	T	0.39682	0.1087	M	0.80616	2.505	0.46028	D	0.998824	D;D	0.69078	0.997;0.997	P;P	0.62382	0.888;0.901	T	0.45585	-0.9251	10	0.87932	D	0	.	13.1141	0.59289	0.0:0.0:0.5587:0.4413	.	157;157	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	W	157;157;74	ENSP00000323858:R157W;ENSP00000304072:R157W;ENSP00000448477:R74W	ENSP00000304072:R157W	R	-	1	2	DDX54	112101426	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.673000	0.46858	1.289000	0.44618	0.462000	0.41574	CGG			0.647	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405435.1		NM_024072		A	113617043	G	A	113617043	3	1	88	1	0	0	0	0	1	0	0	0	4374	1086	38	1	2247	1	DDX54	12	113617043	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	43963758	113617043	20234852	46	6171											
FKBP3	2287	bcgsc.ca	37	chr14	45590789	45590789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagttggttttatctcccTttttcagaacagatttagta	11	17	7	6	0	2	2	1	0	1	2	3	3	2	2	1	1	1	3	1	1	5	8			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr14:45590789T>C	ENST00000216330.3	-	5	763	c.353A>G	c.(352-354)aAg>aGg	p.K118R	FKBP3_ENST00000396062.3_Missense_Mutation_p.K118R			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	118					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTATCTCCCTTTTTCAGAAC	0.338																																					p.K118R													.	FKBP3	21		0			c.A353G												119	111	114					14																	45590789		2203	4300	6503	SO:0001583	missense	2287	exon4			TCTCCCTTTTTCA	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"FK506-binding protein 3 (25kD)"			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.353A>G	14.37:g.45590789T>C	ENSP00000216330:p.Lys118Arg		71	0	0		40	0.1	4	NM_002013	301	0	0	B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552847	0.86127	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	T;T	0.54866	0.55;0.55	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.67397	2.05	0.58432	D	0.999997	D	0.59767	0.986	P	0.49665	0.618	T	0.64279	-0.6445	10	0.51188	T	0.08	-2.7609	16.4837	0.84171	0.0:0.0:0.0:1.0	.	118	Q00688	FKBP3_HUMAN	R	118	ENSP00000216330:K118R;ENSP00000379374:K118R	ENSP00000216330:K118R	K	-	2	0	FKBP3	44660539	1.000000	0.71417	0.991000	0.47740	0.911000	0.54048	5.987000	0.70571	2.371000	0.80710	0.533000	0.62120	AAG			0.338	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276796.1		NM_002013		C	45590789	T	C	45590789	3	2	88	1	0	0	0	0	1	0	0	0	5922	1609	56	4	337	4	FKBP3	14	45590789	Missense_Mutation	SNP	T	TCGA-S6-A8JY-01A-11D-A435-10		45590789	61758751	47	6172											
ZFYVE26	23503	mdanderson.org	37	chr14	68221866	68221866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagatcttcaggtggtcCttggccttaagtagccatga	9	12	12	8	0	2	2	1	1	1	1	3	2	3	2	3	4	1	2	3	4	3	5			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr14:68221866C>A	ENST00000347230.4	-	37	7026	c.6888G>T	c.(6886-6888)aaG>aaT	p.K2296N	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.K142N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2296					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)		TCAGGTGGTCCTTGGCCTTAA	0.478																																					p.K2296N													.	.			0			c.G6888T												183	152	163					14																	68221866		2203	4300	6503	SO:0001583	missense	23503	exon37			GTGGTCCTTGGCC	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.6888G>T	14.37:g.68221866C>A	ENSP00000251119:p.Lys2296Asn		119	0.0084033613	1		60	0.08	5	NM_015346	83	0	0	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421974	0.62622	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.50813	1.53;0.73	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.982;0.997	T	0.64757	-0.6332	10	0.72032	D	0.01	-26.8112	10.4355	0.44433	0.0:0.852:0.0:0.148	.	142;2296	Q96H43;Q68DK2	.;ZFY26_HUMAN	N	2296;2275;142	ENSP00000251119:K2296N;ENSP00000452142:K142N	ENSP00000251119:K2296N	K	-	3	2	ZFYVE26	67291619	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.842000	0.48230	1.374000	0.46228	0.462000	0.41574	AAG			0.478	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412736.2		NM_015346		A	68221866	C	A	68221866	3	1	88	1	0	0	0	0	1	0	0	0	17691	680	24	3	755	3	ZFYVE26	14	68221866	Missense_Mutation	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	22631077	68221866	39127674	48	6173											
MGA	23269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	42003218	42003218	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcatcttataaatccattTtaccataccctgtttcacca	13	15	1	12	0	3	0	2	0	1	0	4	0	4	0	4	0	2	1	4	0	6	6			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr15:42003218T>G	ENST00000570161.1	+	7	2755	c.2755T>G	c.(2755-2757)Tta>Gta	p.L919V	MGA_ENST00000566586.1_Missense_Mutation_p.L919V|MGA_ENST00000219905.7_Missense_Mutation_p.L919V|MGA_ENST00000389936.4_Missense_Mutation_p.L919V|MGA_ENST00000545763.1_Missense_Mutation_p.L919V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					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)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAATCCATTTTACCATACCC	0.403																																					p.L919V													.	.			0			c.T2755G												140	138	139					15																	42003218		1856	4098	5954	SO:0001583	missense	23269	exon8			TCCATTTTACCAT	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2755T>G	15.37:g.42003218T>G	ENSP00000457035:p.Leu919Val		86	0	0		117	0.24	28	NM_001080541	28	0.21	6	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.102938	0.56183	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.15603	2.41;2.41;2.41	6.08	6.08	0.98989	.	0.791425	0.11028	N	0.607624	T	0.13841	0.0335	N	0.24115	0.695	0.25320	N	0.98913	B;P	0.41159	0.335;0.74	B;B	0.42245	0.188;0.381	T	0.20940	-1.0260	10	0.66056	D	0.02	.	5.4421	0.16515	0.1329:0.1333:0.0:0.7337	.	919;919	F5H7K2;E7ENI0	.;.	V	919	ENSP00000219905:L919V;ENSP00000374586:L919V;ENSP00000442467:L919V	ENSP00000219905:L919V	L	+	1	2	MGA	39790510	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.089000	0.41672	2.333000	0.79357	0.533000	0.62120	TTA			0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000420229.1		NM_001164273.1		G	42003218	T	G	42003218	3	3	88	1	0	0	0	0	1	0	0	0	9556	1838	64	4	2781	4	MGA	15	42003218	Missense_Mutation	SNP	T	TCGA-S6-A8JY-01A-11D-A435-10		42003218	60528174	49	6174											
KIAA1199	57214	broad.mit.edu	37	chr15	81217004	81217004	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaaaaccaccgaggccTctgccaaggacaagcggccg	12	3	12	14	3	2	0	1	0	1	0	2	3	2	1	5	3	3	0	5	3	4	0			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr15:81217004T>C	ENST00000394685.3	+	18	2664	c.2245T>C	c.(2245-2247)Tct>Cct	p.S749P	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.S749P|KIAA1199_ENST00000356249.5_Missense_Mutation_p.S749P			Q8WUJ3	CEMIP_HUMAN		749					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CACCGAGGCCTCTGCCAAGGA	0.537																																					p.S749P													.	KIAA1199	118		0			c.T2245C												129	105	113					15																	81217004		2203	4300	6503	SO:0001583	missense	57214	exon17			GAGGCCTCTGCCA																												ENST00000394685.3:c.2245T>C	15.37:g.81217004T>C	ENSP00000378177:p.Ser749Pro		92	0	0		125	0.04	5	NM_018689	0		0	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.851020	0.71719	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.56941	0.43;0.43;0.43	5.12	5.12	0.69794	Pectin lyase fold/virulence factor (1);	0.142433	0.42548	D	0.000681	T	0.61899	0.2384	M	0.62723	1.935	0.35610	D	0.808547	D	0.64830	0.994	P	0.58077	0.832	T	0.69774	-0.5054	10	0.36615	T	0.2	-18.7643	10.4466	0.44497	0.1455:0.0:0.0:0.8545	.	749	Q8WUJ3	K1199_HUMAN	P	749	ENSP00000220244:S749P;ENSP00000378177:S749P;ENSP00000348583:S749P	ENSP00000220244:S749P	S	+	1	0	KIAA1199	79004059	0.998000	0.40836	1.000000	0.80357	0.633000	0.38033	4.924000	0.63418	2.044000	0.60594	0.482000	0.46254	TCT			0.537	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000291389.1				C	81217004	T	C	81217004	3	2	88	1	0	0	0	0	1	0	0	0	8228	1551	54	4	2307	4	KIAA1199	15	81217004	Missense_Mutation	SNP	T	TCGA-S6-A8JY-01A-11D-A435-10	39213786	81217004	21314388	50	6175											
RHBDF1	64285	mdanderson.org	37	chr16	109430	109430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctacctgagagcagagcGtggcctcctcatggaagtag	10	7	13	11	1	1	2	1	1	0	2	2	5	2	3	4	2	3	2	4	2	3	2	rs375953787		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:109430G>A	ENST00000262316.6	-	15	2022	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	627					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGAGCAGAGCGTGGCCTCCTC	0.582																																					p.T627M													.	.			0			c.C1880T							G	MET/THR	1,4405		0,1,2202	107	87	94		1880	5.4	1	16		94	0,8600		0,0,4300	no	missense	RHBDF1	NM_022450.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	627/856	109430	1,13005	2203	4300	6503	SO:0001583	missense	64285	exon15			CAGAGCGTGGCCT	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1880C>T	16.37:g.109430G>A	ENSP00000262316:p.Thr627Met		62	0	0		48	0.06	3	NM_022450	56	0	0	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.50|19.50	3.839769|3.839769	0.71488|0.71488	2.27E-4|2.27E-4	0.0|0.0	ENSG00000007384|ENSG00000007384	ENST00000448893|ENST00000262316	.|T	.|0.53423	.|0.62	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62539|0.62539	0.2436|0.2436	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71656	.|0.974	T|T	0.64829|0.64829	-0.6315|-0.6315	5|10	.|0.87932	.|D	.|0	-12.8458|-12.8458	18.1216|18.1216	0.89573|0.89573	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|627	.|Q96CC6	.|RHDF1_HUMAN	C|M	32|627	.|ENSP00000262316:T627M	.|ENSP00000262316:T627M	R|T	-|-	1|2	0|0	RHBDF1|RHBDF1	49430|49430	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.670000|0.670000	0.39368|0.39368	5.574000|5.574000	0.67424|0.67424	2.537000|2.537000	0.85549|0.85549	0.655000|0.655000	0.94253|0.94253	CGC|ACG			0.582	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000134178.2		NM_022450		A	109430	G	A	109430	3	1	88	1	0	0	0	0	1	0	0	0	13342	1145	40	1	703	1	RHBDF1	16	109430	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		109430	90245323	51	6176											
HAGH	3029	mdanderson.org	37	chr16	1859331	1859331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccctgcgcacggcccGcatggtggtcaccgggtccg	3	8	13	17	5	2	0	1	0	1	0	4	0	3	0	4	4	1	2	4	4	0	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:1859331G>A	ENST00000397356.3	-	9	1286	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	HAGH_ENST00000567398.1_5'UTR|HAGH_ENST00000566709.1_3'UTR|HAGH_ENST00000455446.2_3'UTR|HAGH_ENST00000397353.2_Missense_Mutation_p.R246W	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	294					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGCACGGCCCGCATGGTGGTC	0.662																																					p.R294W	Pancreas(55;1048 1176 25227 40124 41333)												HAGH,bladder,carcinoma,+1,1	HAGH	1	1	0			c.C880T												115	101	106					16																	1859331		2199	4300	6499	SO:0001583	missense	3029	exon9			CGGCCCGCATGGT	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.880C>T	16.37:g.1859331G>A	ENSP00000380514:p.Arg294Trp		32	0	0		36	0.08	3	NM_005326	149	0	0	A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194334	0.38806	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.95554	-3.74;-3.74	4.98	0.0148	0.14101	.	0.154224	0.56097	D	0.000029	D	0.95623	0.8577	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	P	0.54270	0.747	D	0.93369	0.6733	10	0.72032	D	0.01	-12.8509	10.5825	0.45263	0.0:0.0773:0.3681:0.5546	.	294	Q16775	GLO2_HUMAN	W	294;246	ENSP00000380514:R294W;ENSP00000380511:R246W	ENSP00000380511:R246W	R	-	1	2	HAGH	1799332	0.591000	0.26824	0.937000	0.37676	0.002000	0.02628	-0.230000	0.09083	-0.506000	0.06558	-3.073000	0.00066	CGG			0.662	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250548.2		NM_005326		A	1859331	G	A	1859331	3	1	88	1	0	0	0	0	1	0	0	0	6960	1086	38	1	50	1	HAGH	16	1859331	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	1749901	1859331	88495422	52	6177											
CASKIN1	57524	mdanderson.org	37	chr16	2231335	2231335	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtggcaggtggctggaGggcttctcagtggtgggccc	3	9	21	8	0	1	0	1	0	1	0	2	1	1	1	1	8	0	3	1	8	0	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:2231335G>T	ENST00000343516.6	-	18	2126	c.2034C>A	c.(2032-2034)ccC>ccA	p.P678P	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	678					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTGGCTGGAGGGCTTCTCAG	0.677																																					p.P678P													.	.			0			c.C2034A												13	19	17					16																	2231335		2015	4150	6165	SO:0001819	synonymous_variant	57524	exon18			GCTGGAGGGCTTC	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.2034C>A	16.37:g.2231335G>T			29	0	0		26	0.12	3	NM_020764	28	0	0	Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																					0.677	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435055.1		NM_020764		T	2231335	G	T	2231335	2	4	88	1	0	0	0	0	0	0	0	1	2668	987	35	3		3	CASKIN1	16	2231335	Silent	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	372004	2231335	88123418	53	6178											
ATXN2L	11273	mdanderson.org	37	chr16	28846413	28846413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcttcagagcaacccacGcatgctgacgtcgggcagcc	9	6	11	15	3	1	2	1	1	0	1	2	2	1	2	2	1	5	5	2	1	1	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:28846413G>T	ENST00000336783.4	+	19	2635	c.2468G>T	c.(2467-2469)cGc>cTc	p.R823L	ATXN2L_ENST00000564304.1_Missense_Mutation_p.R829L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R823L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R823L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R823L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R823L|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R823L|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	823					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						AGCAACCCACGCATGCTGACG	0.627																																					p.R823L													.	.			0			c.G2468T												107	93	98					16																	28846413		2197	4299	6496	SO:0001583	missense	11273	exon19			ACCCACGCATGCT		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.2468G>T	16.37:g.28846413G>T	ENSP00000338718:p.Arg823Leu		51	0	0		55	0.05	3	NM_148416	846	0	0	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	33	5.209715	0.95069	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.61980	0.12;0.06;0.08;0.11;0.12	5.17	5.17	0.71159	.	0.084454	0.49916	D	0.000136	T	0.73489	0.3593	L	0.52573	1.65	0.53005	D	0.999962	D;D;D;D;D;D;D	0.67145	0.996;0.993;0.993;0.996;0.996;0.993;0.996	D;P;P;D;D;P;D	0.65684	0.937;0.867;0.867;0.937;0.937;0.867;0.937	T	0.72337	-0.4324	10	0.44086	T	0.13	-10.1468	17.609	0.88047	0.0:0.0:1.0:0.0	.	823;823;823;823;823;823;823	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	L	823	ENSP00000341459:R823L;ENSP00000378917:R823L;ENSP00000338718:R823L;ENSP00000372133:R823L;ENSP00000315650:R823L	ENSP00000315650:R823L	R	+	2	0	ATXN2L	28753914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.523000	0.81856	2.700000	0.92200	0.563000	0.77884	CGC			0.627	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000214139.1		NM_007245		T	28846413	G	T	28846413	3	4	88	1	0	0	0	0	1	0	0	0	1212	1087	38	1	2542	1	ATXN2L	16	28846413	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	26615078	28846413	61508340	54	6179											
ANKRD11	29123	mdanderson.org	37	chr16	89341536	89341536	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagacgcagctttccccGgacggcctcctgctgcctga	5	9	11	16	3	0	2	0	1	0	1	2	3	2	3	5	2	3	4	5	2	1	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:89341536G>T	ENST00000301030.4	-	10	7994	c.7534C>A	c.(7534-7536)Cgg>Agg	p.R2512R	ANKRD11_ENST00000378330.2_Silent_p.R2512R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2512					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)		AGCTTTCCCCGGACGGCCTCC	0.687																																					p.R2512R													.	.			0			c.C7534A												27	23	24					16																	89341536		2196	4300	6496	SO:0001819	synonymous_variant	29123	exon10			TTCCCCGGACGGC	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.7534C>A	16.37:g.89341536G>T			44	0	0		43	0.07	3	NM_013275	277	0	0	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																					0.687	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		T	89341536	G	T	89341536	2	4	88	1	0	0	0	0	0	0	0	1	639	1115	39	1		1	ANKRD11	16	89341536	Silent	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	60495123	89341536	1013217	55	6180											
NLRP1	22861	mdanderson.org	37	chr17	5436697	5436697	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagcaacatgggaagcCgccctctctacagaaaaaag	14	5	10	12	1	1	2	0	1	1	1	2	3	1	3	3	1	4	1	3	1	6	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr17:5436697C>A	ENST00000572272.1	-	10	3059	c.3060G>T	c.(3058-3060)gcG>gcT	p.A1020A	NLRP1_ENST00000269280.4_Silent_p.A1020A|NLRP1_ENST00000345221.3_Silent_p.A1020A|NLRP1_ENST00000354411.3_Silent_p.A990A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.A1020A|NLRP1_ENST00000577119.1_Silent_p.A990A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1020					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)				catgggaagccgccctctcta	0.527																																					p.A1020A													.	.			0			c.G3060T												61	55	57					17																	5436697		1327	2309	3636	SO:0001819	synonymous_variant	22861	exon10			GGAAGCCGCCCTC	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.3060G>T	17.37:g.5436697C>A			30	0	0		34	0.09	3	NM_014922	20	0	0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																					0.527	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439517.1		NM_033004		A	5436697	C	A	5436697	2	1	88	1	0	0	0	0	0	0	0	1	10488	639	23	1		1	NLRP1	17	5436697	Silent	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10		5436697	75758513	56	6181											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		191	0.0680628272	13		145	0.04	6	NM_145301	155	0.59	92	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	88	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	10020390	15457087	65738123	57	6182											
MPRIP	23164	mdanderson.org	37	chr17	17079783	17079783	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatacagtacctgaaacAggagattagctccctcaagg	15	7	10	9	0	1	2	1	1	0	1	2	4	2	3	2	3	4	2	2	3	6	3			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr17:17079783A>G	ENST00000341712.4	+	20	2753	c.2753A>G	c.(2752-2754)cAg>cGg	p.Q918R	MPRIP_ENST00000444976.1_Missense_Mutation_p.Q880R|RN7SL775P_ENST00000498361.2_RNA|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.Q918R|MPRIP_ENST00000395804.3_Missense_Mutation_p.Q918R			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	918						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TACCTGAAACAGGAGATTAGC	0.527																																					p.Q918R													.	.			0			c.A2753G												132	136	134					17																	17079783		2203	4300	6503	SO:0001583	missense	23164	exon20			TGAAACAGGAGAT	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2753A>G	17.37:g.17079783A>G	ENSP00000342379:p.Gln918Arg		35	0	0		33	0.09	3	NM_015134	163	0	0	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.378307|4.378307	0.82682|0.82682	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712;ENST00000429184|ENST00000414263	T;T;T;T|.	0.25749|.	1.78;2.09;2.1;2.1|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.128425|.	0.53938|.	D|.	0.000059|.	T|T	0.64023|0.64023	0.2561|0.2561	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999988|0.999988	D;D;D;P;D|.	0.89917|.	0.985;0.994;1.0;0.528;0.993|.	D;D;D;P;D|.	0.87578|.	0.921;0.983;0.998;0.651;0.966|.	T|T	0.62826|0.62826	-0.6772|-0.6772	10|5	0.28530|.	T|.	0.3|.	-18.7986|-18.7986	14.3035|14.3035	0.66371|0.66371	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	917;880;1282;918;918|.	B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.;.;.;.;MPRIP_HUMAN|.	R|G	880;918;918;918;74|984	ENSP00000400189:Q880R;ENSP00000379156:Q918R;ENSP00000379149:Q918R;ENSP00000342379:Q918R|.	ENSP00000342379:Q918R|.	Q|R	+|+	2|1	0|2	MPRIP|MPRIP	17020508|17020508	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.893000|0.893000	0.52053|0.52053	9.256000|9.256000	0.95535|0.95535	1.780000|1.780000	0.52325|0.52325	0.459000|0.459000	0.35465|0.35465	CAG|AGG			0.527	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000131587.1		NM_015134		G	17079783	A	G	17079783	3	3	88	1	0	0	0	0	1	0	0	0	9759	188	7	4	2831	4	MPRIP	17	17079783	Missense_Mutation	SNP	A	TCGA-S6-A8JY-01A-11D-A435-10	1622696	17079783	64115427	58	6183											
LRRC37B	114659	mdanderson.org	37	chr17	30349013	30349013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcttcactccaggaagAagccccagcgcagcttctac	9	8	8	16	1	3	1	1	0	2	1	5	2	5	2	4	1	4	2	4	1	3	3			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr17:30349013A>G	ENST00000341671.7	+	1	853	c.848A>G	c.(847-849)gAa>gGa	p.E283G	LRRC37B_ENST00000394713.3_Missense_Mutation_p.E283G|LRRC37B_ENST00000327564.7_Missense_Mutation_p.E310G|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E201G|LRRC37B_ENST00000584368.1_Missense_Mutation_p.E295G	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	283						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTCCAGGAAGAAGCCCCAGCG	0.542																																					p.E283G													.	.			0			c.A848G												54	66	62					17																	30349013		2202	4293	6495	SO:0001583	missense	114659	exon1			AGGAAGAAGCCCC	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.848A>G	17.37:g.30349013A>G	ENSP00000340519:p.Glu283Gly		51	0	0		42	0.07	3	NM_052888	22	0	0	Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	12.84	2.057772	0.36277	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.72835	-0.67;-0.67;0.43;-0.69	1.98	0.747	0.18371	.	.	.	.	.	T	0.80144	0.4569	M	0.81341	2.54	0.09310	N	1	D;D	0.76494	0.992;0.999	P;D	0.75484	0.486;0.986	T	0.65409	-0.6175	9	0.56958	D	0.05	.	3.8719	0.09041	0.6716:0.0:0.0:0.3284	.	283;283	Q17RC9;Q96QE4	.;LR37B_HUMAN	G	201;310;283;283	ENSP00000443345:E201G;ENSP00000332536:E310G;ENSP00000378202:E283G;ENSP00000340519:E283G	ENSP00000332536:E310G	E	+	2	0	LRRC37B	27373126	0.016000	0.18221	0.002000	0.10522	0.081000	0.17604	3.010000	0.49559	0.159000	0.19401	0.156000	0.16432	GAA			0.542	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446508.1		NM_052888		G	30349013	A	G	30349013	3	3	88	1	0	0	0	0	1	0	0	0	9010	246	9	4	850	4	LRRC37B	17	30349013	Missense_Mutation	SNP	A	TCGA-S6-A8JY-01A-11D-A435-10	13269230	30349013	50846197	59	6184											
TCF3	6929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1612333	1612333	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctcccggaaggcctcgttAatatcccgcacgcgcacccg	8	6	10	17	6	0	0	0	0	0	0	3	1	2	1	4	2	1	4	4	2	3	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:1612333A>C	ENST00000344749.5	-	18	1752	c.1686T>G	c.(1684-1686)atT>atG	p.I562M	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000453954.2_Missense_Mutation_p.I477M|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.I562M	NM_001136139.2	NP_001129611.1	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)		AGGCCTCGTTAATATCCCGCA	0.642			T	"PBX1, HLF, TFPT"	pre B-ALL																																p.I562M				Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	.			0			c.T1686G												74	70	71					19																	1612333		1568	3582	5150	SO:0001583	missense	6929	exon17			CTCGTTAATATCC	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	ENST00000344749.5:c.1686T>G	19.37:g.1612333A>C	ENSP00000344375:p.Ile562Met		157	0	0		145	0.27	39	NM_001136139	124	0.55	68	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000344749.5	37	CCDS45899.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515115	0.64634	.	.	ENSG00000071564	ENST00000344749;ENST00000453954	D	0.98876	-5.2	4.63	2.3	0.28687	.	.	.	.	.	D	0.98654	0.9549	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97974	1.0345	8	0.87932	D	0	.	4.5199	0.11954	0.6155:0.0:0.0847:0.2999	.	562	P15923-2	.	M	562	ENSP00000344375:I562M	ENSP00000344375:I562M	I	-	3	3	TCF3	1563333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.957000	0.29215	0.695000	0.31675	0.459000	0.35465	ATT			0.642	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000449375.1		NM_003200		C	1612333	A	C	1612333	3	2	88	1	0	0	0	0	1	0	0	0	15717	358	13	4	277	4	TCF3	19	1612333	Missense_Mutation	SNP	A	TCGA-S6-A8JY-01A-11D-A435-10		1612333	57516650	60	6185											
MYO9B	4650	mdanderson.org	37	chr19	17316915	17316915	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggcctctaccgcaagtcGggtgctgccaaccgcactcg	7	6	13	15	4	1	0	0	0	1	0	3	1	1	0	4	2	4	3	4	2	3	1	rs367648233		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:17316915G>T	ENST00000594824.1	+	32	5358	c.5211G>T	c.(5209-5211)tcG>tcT	p.S1737S	CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000595618.1_Silent_p.S1737S|MYO9B_ENST00000397274.2_Silent_p.S1737S			Q13459	MYO9B_HUMAN	myosin IXB	1737	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|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						ACCGCAAGTCGGGTGCTGCCA	0.687																																					p.S1737S													.	.			0			c.G5211T												31	37	35					19																	17316915		2131	4236	6367	SO:0001819	synonymous_variant	4650	exon32			CAAGTCGGGTGCT		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.5211G>T	19.37:g.17316915G>T			50	0	0		43	0.07	3	NM_001130065	112	0	0	O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37																																																																																						0.687	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000463236.1				T	17316915	G	T	17316915	2	4	88	1	0	0	0	0	0	0	0	1	10101	1103	39	1		1	MYO9B	19	17316915	Silent	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	15704582	17316915	41812068	61	6186											
C19orf54	284325	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	41250532	41250532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagtctctccagggggAcgccactggggggcgacagg	7	6	18	10	2	1	1	0	1	1	0	3	3	2	2	2	6	0	1	2	6	1	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:41250532A>G	ENST00000378313.2	-	3	568	c.449T>C	c.(448-450)gTc>gCc	p.V150A	C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598485.2_Silent_p.R19R|C19orf54_ENST00000598729.1_Silent_p.R19R|C19orf54_ENST00000470681.1_Missense_Mutation_p.V12A|C19orf54_ENST00000339153.3_Silent_p.R19R	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	150										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCCAGGGGGACGCCACTGGG	0.622																																					p.V150A													.	C19orf54	13		0			c.T449C												67	54	58					19																	41250532		2203	4300	6503	SO:0001583	missense	284325	exon3			AGGGGGACGCCAC	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.449T>C	19.37:g.41250532A>G	ENSP00000367564:p.Val150Ala		77	0.012987013	1		74	0.05	4	NM_198476	91	0	0	A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	CCDS12564.2	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546626	0.27652	.	.	ENSG00000188493	ENST00000378313	.	.	.	5.83	2.59	0.31030	.	1.387930	0.05633	U	0.581992	T	0.33323	0.0859	L	0.29908	0.895	0.19300	N	0.999977	B;B	0.24823	0.112;0.037	B;B	0.20955	0.032;0.013	T	0.29518	-1.0009	9	0.48119	T	0.1	-0.1077	8.3667	0.32391	0.6901:0.0:0.3099:0.0	.	12;150	Q6ZWG5;Q5BKX5	.;CS054_HUMAN	A	150	.	ENSP00000367564:V150A	V	-	2	0	C19orf54	45942372	0.264000	0.24093	0.048000	0.18961	0.553000	0.35397	4.315000	0.59172	0.129000	0.18514	0.533000	0.62120	GTC			0.622	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316701.1		NM_198476		G	41250532	A	G	41250532	3	3	88	1	0	0	0	0	1	0	0	0	1938	275	10	4	622	4	C19orf54	19	41250532	Missense_Mutation	SNP	A	TCGA-S6-A8JY-01A-11D-A435-10	23933617	41250532	17878451	62	6187											
MYH14	79784	mdanderson.org	37	chr19	50760599	50760599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagcagcctgggcgaCggcccaccaggtggccgccc	6	3	16	16	3	0	1	0	1	0	0	0	2	0	1	5	5	2	1	5	5	0	0			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:50760599C>T	ENST00000596571.1	+	15	1965	c.1965C>T	c.(1963-1965)gaC>gaT	p.D655D	MYH14_ENST00000440075.2_Silent_p.D696D|MYH14_ENST00000262269.8_Silent_p.D696D|MYH14_ENST00000425460.1_Silent_p.D663D|MYH14_ENST00000376970.2_Silent_p.D688D|MYH14_ENST00000601313.1_Silent_p.D696D|MYH14_ENST00000598205.1_Silent_p.D663D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	655	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)		GCCTGGGCGACGGCCCACCAG	0.627																																					p.D696D													.	.			0			c.C2088T												17	21	19					19																	50760599		1961	4149	6110	SO:0001819	synonymous_variant	79784	exon18			GGGCGACGGCCCA	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.1965C>T	19.37:g.50760599C>T			44	0	0		44	0.07	3	NM_001145809	36	0	0	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																					0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464710.2		NM_024729		T	50760599	C	T	50760599	2	4	88	1	0	0	0	0	0	0	0	1	10049	535	19	1		1	MYH14	19	50760599	Silent	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	9510067	50760599	8368384	63	6188											
SHANK1	50944	mdanderson.org	37	chr19	51172415	51172415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggggactggaggtgtGctgtagggaggctccggtgg	6	7	23	5	1	0	0	0	0	0	0	1	5	1	4	1	9	1	3	1	9	1	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:51172415G>T	ENST00000293441.1	-	22	2820	c.2802C>A	c.(2800-2802)agC>agA	p.S934R	SHANK1_ENST00000391813.1_Missense_Mutation_p.S321R|SHANK1_ENST00000391814.1_Missense_Mutation_p.S942R|SHANK1_ENST00000359082.3_Missense_Mutation_p.S925R|SYT3_ENST00000544769.1_5'Flank	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	934					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)		CTGGAGGTGTGCTGTAGGGAG	0.697																																					p.S934R													SHANK1,NS,carcinoma,-1,1	SHANK1	-1	1	0			c.C2802A												24	24	24					19																	51172415		2200	4299	6499	SO:0001583	missense	50944	exon22			AGGTGTGCTGTAG	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.2802C>A	19.37:g.51172415G>T	ENSP00000293441:p.Ser934Arg		35	0	0		19	0.11	2	NM_016148	2	0	0	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190828	0.21954	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.38887	1.24;1.66;1.21;1.11	3.03	3.03	0.35002	.	0.696271	0.12535	U	0.460458	T	0.32255	0.0823	L	0.38175	1.15	0.25440	N	0.988105	B;B	0.23650	0.003;0.089	B;B	0.16289	0.002;0.015	T	0.25641	-1.0126	10	0.66056	D	0.02	0.0607	9.4376	0.38648	0.0:0.0:0.7871:0.2129	.	934;321	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	R	934;321;925;942	ENSP00000293441:S934R;ENSP00000375689:S321R;ENSP00000351984:S925R;ENSP00000375690:S942R	ENSP00000293441:S934R	S	-	3	2	SHANK1	55864227	0.975000	0.34042	0.998000	0.56505	0.482000	0.33219	0.421000	0.21280	1.408000	0.46895	0.549000	0.68633	AGC			0.697	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268071.1		NM_016148		T	51172415	G	T	51172415	3	4	88	1	0	0	0	0	1	0	0	0	14287	1310	46	2	3691	2	SHANK1	19	51172415	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	411816	51172415	7956568	64	6189											
ZNF606	80095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	58490600	58490600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactcattacaaacataaGgtttttctcctgtatgaatt	13	15	4	9	0	2	1	1	1	1	0	3	1	2	1	1	1	2	2	1	1	5	6			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:58490600G>C	ENST00000341164.4	-	7	2068	c.1448C>G	c.(1447-1449)cCt>cGt	p.P483R	ZNF606_ENST00000536132.1_Missense_Mutation_p.P393R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	483					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)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACAAACATAAGGTTTTTCTCC	0.358																																					p.P483R													.	.			0			c.C1448G												46	49	48					19																	58490600		2203	4299	6502	SO:0001583	missense	80095	exon7			ACATAAGGTTTTT	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1448C>G	19.37:g.58490600G>C	ENSP00000343617:p.Pro483Arg		79	0	0		71	0.15	11	NM_025027	43	0.44	19	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156849	0.38119	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.56444	0.46;2.29;1.64	3.99	3.99	0.46301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000339	T	0.71592	0.3358	M	0.81179	2.53	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.75569	-0.3272	10	0.87932	D	0	.	12.3225	0.54993	0.0:0.1726:0.8274:0.0	.	483	Q8WXB4	ZN606_HUMAN	R	483;393;483	ENSP00000343617:P483R;ENSP00000445624:P393R;ENSP00000446972:P483R	ENSP00000343617:P483R	P	-	2	0	ZNF606	63182412	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.155000	0.64900	2.515000	0.84797	0.655000	0.94253	CCT			0.358	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405961.1		NM_025027		C	58490600	G	C	58490600	3	2	88	1	0	0	0	0	1	0	0	0	18055	1000	35	5	934	5	ZNF606	19	58490600	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	7318185	58490600	638383	65	6190											
PYGB	5834	mdanderson.org	37	chr20	25277029	25277029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggagtggaccaagaaGgtcatcaggaacatcgcctg	13	5	12	11	1	2	1	2	0	0	1	3	4	2	4	3	4	1	0	3	4	4	0			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr20:25277029G>T	ENST00000216962.4	+	20	2513	c.2403G>T	c.(2401-2403)aaG>aaT	p.K801N	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	801					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						GGACCAAGAAGGTCATCAGGA	0.557																																					p.K801N													.	.			0			c.G2403T												95	78	83					20																	25277029		2203	4300	6503	SO:0001583	missense	5834	exon20			CAAGAAGGTCATC		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.2403G>T	20.37:g.25277029G>T	ENSP00000216962:p.Lys801Asn		66	0	0		49	0.06	3	NM_002862	934	0	1	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.161080|3.161080	0.57368|0.57368	.|.	.|.	ENSG00000100994|ENSG00000100994	ENST00000216962|ENST00000428458	D|.	0.93659|.	-3.26|.	4.66|4.66	2.7|2.7	0.31948|0.31948	.|.	0.111267|.	0.64402|.	D|.	0.000012|.	T|T	0.79370|0.79370	0.4434|0.4434	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	P|.	0.45986|.	0.87|.	P|.	0.45794|.	0.493|.	T|T	0.82442|0.82442	-0.0455|-0.0455	10|5	0.59425|.	D|.	0.04|.	-45.2731|-45.2731	9.8622|9.8622	0.41120|0.41120	0.2297:0.0:0.7703:0.0|0.2297:0.0:0.7703:0.0	.|.	801|.	P11216|.	PYGB_HUMAN|.	N|M	801|220	ENSP00000216962:K801N|.	ENSP00000216962:K801N|.	K|R	+|+	3|2	2|0	PYGB|PYGB	25225029|25225029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.334000|2.334000	0.43920|0.43920	1.303000|1.303000	0.44873|0.44873	0.561000|0.561000	0.74099|0.74099	AAG|AGG			0.557	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078415.2		NM_002862		T	25277029	G	T	25277029	3	4	88	1	0	0	0	0	1	0	0	0	12883	991	35	3	2481	3	PYGB	20	25277029	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		25277029	37748491	66	6191											
CDH22	64405	mdanderson.org	37	chr20	44815231	44815231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtttggaggctcaccttgGatgtcaagcagagagaaatg	11	9	15	6	0	2	2	2	0	0	2	2	5	2	4	1	4	1	3	1	4	2	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr20:44815231G>T	ENST00000372262.3	-	9	2059	c.1659C>A	c.(1657-1659)atC>atA	p.I553I	CDH22_ENST00000537909.1_Silent_p.I553I	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)				GCTCACCTTGGATGTCAAGCA	0.597																																					p.I553I													CDH22,NS,carcinoma,0,1	CDH22	0	1	0			c.C1659A												87	82	84					20																	44815231		2203	4300	6503	SO:0001819	synonymous_variant	64405	exon10			ACCTTGGATGTCA	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.1659C>A	20.37:g.44815231G>T			63	0	0		44	0.07	3	NM_021248	0		0	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	CCDS13395.1																																																																																					0.597	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080491.1		NM_021248		T	44815231	G	T	44815231	2	4	88	1	0	0	0	0	0	0	0	1	3109	1164	41	3		3	CDH22	20	44815231	Silent	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	19538202	44815231	18210289	67	6192											
APCDD1L	164284	mdanderson.org	37	chr20	57042182	57042182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcgctctgcagcgggcGctggtagcccgtgggccggt	3	7	18	13	5	1	0	0	0	1	0	1	0	1	0	2	4	4	4	2	4	1	1			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr20:57042182G>A	ENST00000371149.3	-	3	951	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	APCDD1L_ENST00000439429.1_Missense_Mutation_p.R252C	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	241						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TGCAGCGGGCGCTGGTAGCCC	0.721																																					p.R241C													.	.			0			c.C721T												20	25	24					20																	57042182		2190	4285	6475	SO:0001583	missense	164284	exon3			GCGGGCGCTGGTA	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.721C>T	20.37:g.57042182G>A	ENSP00000360191:p.Arg241Cys		29	0	0		29	0.1	3	NM_153360	0		0		Missense_Mutation	SNP	ENST00000371149.3	37	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218535	0.58560	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.18338	2.22;2.22	5.27	2.24	0.28232	.	0.485725	0.22952	N	0.053657	T	0.19886	0.0478	L	0.57536	1.79	0.34358	D	0.690646	D;D	0.60160	0.987;0.987	P;B	0.46825	0.528;0.409	T	0.28650	-1.0037	10	0.62326	D	0.03	-13.5528	7.5484	0.27781	0.1423:0.0:0.7224:0.1353	.	252;241	F5H6V6;Q8NCL9	.;APCDL_HUMAN	C	241;252	ENSP00000360191:R241C;ENSP00000413261:R252C	ENSP00000360191:R241C	R	-	1	0	APCDD1L	56475588	1.000000	0.71417	0.684000	0.30055	0.913000	0.54294	3.409000	0.52657	0.225000	0.20959	0.555000	0.69702	CGC			0.721	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000079881.2		NM_153360		A	57042182	G	A	57042182	3	1	88	1	0	0	0	0	1	0	0	0	766	1087	38	1	792	1	APCDD1L	20	57042182	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	12226951	57042182	5983338	68	6193											
NEFH	4744	hgsc.bcm.edu	37	chr22	29885638	29885638	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaggccaagtccccagTgaaggcagaagcaaagtccc	14	4	12	11	0	0	3	0	2	0	2	2	4	2	3	4	2	1	2	4	2	5	0	rs267607535|rs190692435		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr22:29885638T>A	ENST00000310624.6	+	4	2042	c.2009T>A	c.(2008-2010)gTg>gAg	p.V670E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	676	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGTCCCCAGTGAAGGCAGAA	0.562																																					p.V670E													NEFH,NS,lymphoid_neoplasm,0,1	NEFH	0	1	0			c.T2009A												93	100	98					22																	29885638		2203	4299	6502	SO:0001583	missense	4744	exon4			CCCCAGTGAAGGC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2009T>A	22.37:g.29885638T>A	ENSP00000311997:p.Val670Glu		169	0	0		229	0.05	12	NM_021076	727	0.02	18	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.746577	0.00086	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.82344	-1.6	4.7	1.26	0.21427	.	1.045180	0.07584	N	0.920821	T	0.75162	0.3812	N	0.24115	0.695	0.09310	N	1	B	0.31640	0.333	B	0.41202	0.35	T	0.64050	-0.6498	10	0.45353	T	0.12	.	3.8398	0.08909	0.1553:0.2981:0.0:0.5465	.	676	P12036	NFH_HUMAN	E	670	ENSP00000311997:V670E	ENSP00000311997:V670E	V	+	2	0	NEFH	28215638	0.968000	0.33430	0.005000	0.12908	0.183000	0.23260	0.000000	0.12993	-0.045000	0.13468	0.402000	0.26972	GTG			0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321553.2		NM_021076		A	29885638	T	A	29885638	3	1	88	1	0	0	0	0	1	0	0	0	10331	1696	59	5	2023	5	NEFH	22	29885638	Missense_Mutation	SNP	T	TCGA-S6-A8JY-01A-11D-A435-10		29885638	21418928	69	6194											
DEPDC5	9681	bcgsc.ca;mdanderson.org	37	chr22	32193622	32193622	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagaagagaagaatggacTtcacttctcgtaaccattaa	16	9	9	7	1	2	3	1	0	1	3	3	7	2	4	1	1	1	1	1	1	5	4			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr22:32193622T>C	ENST00000382112.3	+	12	874	c.804T>C	c.(802-804)acT>acC	p.T268T	DEPDC5_ENST00000382105.2_Silent_p.T268T|DEPDC5_ENST00000400242.3_Silent_p.T268T|DEPDC5_ENST00000266091.3_Silent_p.T268T|DEPDC5_ENST00000535622.1_Silent_p.T268T|DEPDC5_ENST00000382111.2_Silent_p.T268T|DEPDC5_ENST00000400246.1_Silent_p.T268T|DEPDC5_ENST00000536766.1_Silent_p.T240T|DEPDC5_ENST00000400248.2_Silent_p.T268T|DEPDC5_ENST00000400249.2_Silent_p.T268T	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	268					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						AAGAATGGACTTCACTTCTCG	0.443																																					p.T268T													.	DEPDC5	266		0			c.T804C												98	97	97					22																	32193622		1907	4127	6034	SO:0001819	synonymous_variant	9681	exon13			ATGGACTTCACTT	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.804T>C	22.37:g.32193622T>C			92	0	0		94	0.05	5	NM_001242897	22	0	0	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	CCDS46692.1																																																																																					0.443	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129087.1		NM_014662		C	32193622	T	C	32193622	2	2	88	1	0	0	0	0	0	0	0	1	4447	1596	56	4		4	DEPDC5	22	32193622	Silent	SNP	T	TCGA-S6-A8JY-01A-11D-A435-10	2307984	32193622	19110944	70	6195											
IL17REL	400935	broad.mit.edu;mdanderson.org	37	chr22	50438258	50438258	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggggcgcgggcgctcactCgcacaggggcgccggcgtcc	3	3	18	17	8	1	0	1	0	0	0	3	0	2	0	3	6	0	2	3	6	0	0			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr22:50438258C>T	ENST00000389983.2	-	7	737	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	IL17REL_ENST00000341280.5_Splice_Site_p.R158Q	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	158										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)		ggcgCTCACTCGCACAGGGGC	0.771																																					p.R158Q													.	IL17REL	21		0			c.G473A												6	7	7					22																	50438258		1966	3866	5832	SO:0001630	splice_region_variant	400935	exon7			CTCACTCGCACAG	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.474+1G>A	22.37:g.50438258C>T			34	0	0		33	0.15	5	NM_001001694	0		0	A6NCN4|A6PVC1	Splice_Site	SNP	ENST00000389983.2	37	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	c	6.768	0.510531	0.12883	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.13420	2.59;2.59	3.53	-7.06	0.01568	.	2.113020	0.02862	N	0.130473	T	0.06142	0.0159	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32268	-0.9913	10	0.09084	T	0.74	.	4.6411	0.12548	0.4486:0.3371:0.0:0.2144	.	158	Q6ZVW7	I17EL_HUMAN	Q	158	ENSP00000374633:R158Q;ENSP00000342520:R158Q	ENSP00000342520:R158Q	R	-	2	0	IL17REL	48780385	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-3.441000	0.00470	-1.285000	0.02387	-3.661000	0.00025	CGA			0.771	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317011.1		NM_001001694	Missense_Mutation	T	50438258	C	T	50438258	5	4	88	1	0	0	0	0	0	0	1	0	7659	898	31	1	569	1	IL17REL	22	50438258	Splice_Site	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	18244636	50438258	866308	71	6196											
TLR7	51284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	12904184	12904184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaaaactgttattatcGaaatccttgttatgtttcat	11	16	7	7	1	1	0	1	0	0	0	3	1	2	0	2	1	1	3	2	1	6	5			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:12904184G>T	ENST00000380659.3	+	3	696	c.557G>T	c.(556-558)cGa>cTa	p.R186L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	186					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|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-gamma biosynthetic process (GO:0045078)|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 NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TGTTATTATCGAAATCCTTGT	0.388																																					p.R186L													.	.			0			c.G557T												46	45	46					X																	12904184		2203	4300	6503	SO:0001583	missense	51284	exon3			ATTATCGAAATCC	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.557G>T	X.37:g.12904184G>T	ENSP00000370034:p.Arg186Leu		82	0	0		92	0.43	40	NM_016562	2	0	0	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761960	0.69763	.	.	ENSG00000196664	ENST00000380659	T	0.35236	1.32	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	L	0.58969	1.84	0.58432	D	0.999999	P	0.48230	0.907	P	0.46299	0.511	T	0.41378	-0.9512	10	0.48119	T	0.1	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	186	Q9NYK1	TLR7_HUMAN	L	186	ENSP00000370034:R186L	ENSP00000370034:R186L	R	+	2	0	TLR7	12814105	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.995000	0.88328	2.252000	0.74401	0.589000	0.80489	CGA			0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055769.1		NM_016562		T	12904184	G	T	12904184	3	4	88	1	0	0	0	0	1	0	0	0	15979	1058	37	1	563	1	TLR7	23	12904184	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10		12904184	142366376	72	6197											
GNL3L	54552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	54584946	54584946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacgcaatgtggaccaccgCcctaagagcaacagtatggt	14	6	10	11	2	0	1	0	0	0	1	0	2	0	2	3	2	3	3	3	2	5	2			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:54584946C>T	ENST00000336470.4	+	15	1663	c.1524C>T	c.(1522-1524)cgC>cgT	p.R508R	GNL3L_ENST00000360845.2_Silent_p.R508R	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	508					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						TGGACCACCGCCCTAAGAGCA	0.552																																					p.R508R													.	.			0			c.C1524T												129	94	105					X																	54584946		2203	4300	6503	SO:0001819	synonymous_variant	54552	exon15			CCACCGCCCTAAG	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.1524C>T	X.37:g.54584946C>T			80	0	0		111	0.32	36	NM_001184819	55	0.44	24		Silent	SNP	ENST00000336470.4	37	CCDS14360.1																																																																																					0.552	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056805.1		NM_019067		T	54584946	C	T	54584946	2	4	88	1	0	0	0	0	0	0	0	1	6552	726	26	2		2	GNL3L	23	54584946	Silent	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	41680762	54584946	100685614	73	6198											
TAF7L	54457	mdanderson.org	37	chrX	100533046	100533046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaaggatacgggtacttaCggcttcagcatccgaacgca	13	8	10	10	4	1	0	1	0	0	0	2	2	2	1	1	3	5	4	1	3	6	5			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:100533046C>T	ENST00000372907.3	-	8	837	c.826G>A	c.(826-828)Gta>Ata	p.V276I	TAF7L_ENST00000356784.1_Missense_Mutation_p.V190I|TAF7L_ENST00000372905.2_Missense_Mutation_p.V190I|TAF7L_ENST00000324762.6_Missense_Mutation_p.V190I	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	276					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						CGGGTACTTACGGCTTCAGCA	0.453																																					p.V276I	Ovarian(104;431 1530 3210 15406 18594)												.	.			0			c.G826A												108	97	101					X																	100533046		2203	4300	6503	SO:0001583	missense	54457	exon8			TACTTACGGCTTC	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.826G>A	X.37:g.100533046C>T	ENSP00000361998:p.Val276Ile		29	0	0		41	0.07	3	NM_024885	0		0	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	4.614	0.114026	0.08831	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.25085	3.69;1.82;1.82;2.93	5.08	-6.65	0.01795	TAFII55 protein, conserved region (1);	1.505090	0.04246	N	0.337855	T	0.15478	0.0373	N	0.21508	0.67	0.09310	N	0.999991	B;B	0.15719	0.013;0.014	B;B	0.14578	0.011;0.003	T	0.20505	-1.0273	10	0.25751	T	0.34	0.0777	9.2445	0.37518	0.0:0.5804:0.1309:0.2887	.	276;190	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	I	276;190;190;190	ENSP00000361998:V276I;ENSP00000361996:V190I;ENSP00000320283:V190I;ENSP00000349235:V190I	ENSP00000320283:V190I	V	-	1	0	TAF7L	100419702	0.000000	0.05858	0.006000	0.13384	0.018000	0.09664	-0.464000	0.06688	-2.380000	0.00594	-1.159000	0.01794	GTA			0.453	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000057526.2				T	100533046	C	T	100533046	3	4	88	1	0	0	0	0	1	0	0	0	15556	536	19	1	586	1	TAF7L	23	100533046	Missense_Mutation	SNP	C	TCGA-S6-A8JY-01A-11D-A435-10	45948100	100533046	54737514	74	6199											
GLA	2717	broad.mit.edu;mdanderson.org	37	chrX	100653456	100653456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgagggctgatgtgtcGgaggtcattagacatgaata	10	11	15	5	1	1	4	1	3	0	1	2	5	1	5	0	4	0	2	0	4	3	3	rs398123224		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:100653456G>C	ENST00000218516.3	-	6	922	c.901C>G	c.(901-903)Cga>Gga	p.R301G	GLA_ENST00000479445.1_5'Flank|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	301			R -> Q (in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells). {ECO:0000269|PubMed:10208848, ECO:0000269|PubMed:10916280, ECO:0000269|PubMed:1315715, ECO:0000269|PubMed:2171331, ECO:0000269|PubMed:7575533, ECO:0000269|PubMed:7599642, ECO:0000269|PubMed:8738659, ECO:0000269|PubMed:9105656}.		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						CTGATGTGTCGGAGGTCATTA	0.502																																					p.R301G	Colon(193;776 2816 31189 44474)												.	GLA	43		0			c.C901G	GRCh37	CM940866|HM972098	GLA	M								150	146	147					X																	100653456		2203	4300	6503	SO:0001583	missense	2717	exon6			TGTGTCGGAGGTC	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.901C>G	X.37:g.100653456G>C	ENSP00000218516:p.Arg301Gly		52	0	0		54	0.07	4	NM_000169	97	0.04	4	Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719275	0.68844	.	.	ENSG00000102393	ENST00000218516	D	0.99671	-6.35	5.91	2.99	0.34606	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.056189	0.64402	D	0.000001	D	0.99563	0.9843	.	.	.	0.48696	D	0.999698	D	0.89917	1.0	D	0.80764	0.994	D	0.98713	1.0705	9	0.66056	D	0.02	-3.3016	13.9806	0.64301	0.0:0.0:0.4447:0.5553	.	301	P06280	AGAL_HUMAN	G	301	ENSP00000218516:R301G	ENSP00000218516:R301G	R	-	1	2	GLA	100540112	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	1.833000	0.39161	0.167000	0.19631	0.600000	0.82982	CGA			0.502	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057540.1				C	100653456	G	C	100653456	3	2	88	1	0	0	0	0	1	0	0	0	6440	1124	39	5	396	5	GLA	23	100653456	Missense_Mutation	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	120410	100653456	54617104	75	6200											
BRS3	680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	135572573	135572573	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctctgtctactattcctTgattgctaggaccctttaca	8	17	5	11	0	2	1	0	1	2	0	4	2	3	2	2	1	3	1	2	1	5	9			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:135572573T>G	ENST00000370648.3	+	2	944	c.716T>G	c.(715-717)tTg>tGg	p.L239W		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	239					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TACTATTCCTTGATTGCTAGG	0.398																																					p.L239W													.	.			0			c.T716G												82	76	78					X																	135572573		2203	4299	6502	SO:0001583	missense	680	exon2			ATTCCTTGATTGC		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.716T>G	X.37:g.135572573T>G	ENSP00000359682:p.Leu239Trp		55	0	0		64	0.33	21	NM_001727	0		0		Missense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245652	0.80024	.	.	ENSG00000102239	ENST00000370648	T	0.42513	0.97	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000027	T	0.65312	0.2679	M	0.79693	2.465	0.47214	D	0.999357	D	0.89917	1.0	D	0.79108	0.992	T	0.66606	-0.5881	10	0.36615	T	0.2	-8.9319	14.5057	0.67750	0.0:0.0:0.0:1.0	.	239	P32247	BRS3_HUMAN	W	239	ENSP00000359682:L239W	ENSP00000359682:L239W	L	+	2	0	BRS3	135400239	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	7.698000	0.84413	1.805000	0.52779	0.486000	0.48141	TTG			0.398	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059005.1		NM_001727		G	135572573	T	G	135572573	3	3	88	1	0	0	0	0	1	0	0	0	1524	1821	63	4	722	4	BRS3	23	135572573	Missense_Mutation	SNP	T	TCGA-S6-A8JY-01A-11D-A435-10	34919117	135572573	19697987	76	6201											
GABRE	2564	mdanderson.org	37	chrX	151123960	151123960	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcgatatagaaatccaaGgctgtgatataggagacacg	15	8	12	6	2	0	3	0	1	0	2	1	5	1	3	1	3	0	1	1	3	6	4			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:151123960G>T	ENST00000370328.3	-	8	1070	c.1017C>A	c.(1015-1017)gcC>gcA	p.A339A	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Silent_p.A339A	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	339					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAAATCCAAGGCTGTGATAT	0.488																																					p.A339A													.	.			0			c.C1017A												142	122	129					X																	151123960		2203	4300	6503	SO:0001819	synonymous_variant	2564	exon8			ATCCAAGGCTGTG	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1017C>A	X.37:g.151123960G>T			34	0	0		39	0.08	3	NM_004961	5	0	0	E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	CCDS14703.1																																																																																					0.488	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060903.1		NM_004961, NM_021990, NM_021984		T	151123960	G	T	151123960	2	4	88	1	0	0	0	0	0	0	0	1	6183	987	35	3		3	GABRE	23	151123960	Silent	SNP	G	TCGA-S6-A8JY-01A-11D-A435-10	15551387	151123960	4146600	77	6202											
RUNX3	864	mdanderson.org	37	chr1	25228682	25228682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgtgggtgagttgctgtgGctgccgtcggcctccacgcc	2	9	16	14	4	0	1	0	1	0	0	2	1	1	1	5	3	2	3	5	3	0	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr1:25228682G>T	ENST00000308873.6	-	5	1187	c.1179C>A	c.(1177-1179)agC>agA	p.S393R	RUNX3_ENST00000540420.1_Missense_Mutation_p.S300R|RUNX3_ENST00000338888.3_Missense_Mutation_p.S407R|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000399916.1_Missense_Mutation_p.S407R	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	393	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		AGTTGCTGTGGCTGCCGTCGG	0.706																																					p.S407R													.	.			0			c.C1221A												10	10	10					1																	25228682		2112	4151	6263	SO:0001583	missense	864	exon6			GCTGTGGCTGCCG	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.1179C>A	1.37:g.25228682G>T	ENSP00000308051:p.Ser393Arg		40	0	0		42	0.07	3	NM_001031680	43	0	0	B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	CCDS257.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385569	0.61956	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.15	1.15	0.20763	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.64997	1.995	0.44643	D	0.997621	D;D;D	0.61697	0.99;0.984;0.966	D;P;P	0.64321	0.924;0.81;0.773	T	0.46992	-0.9151	10	0.72032	D	0.01	-31.8311	9.6601	0.39950	0.2284:0.0:0.7716:0.0	.	340;407;393	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	R	407;393;407;300;340	ENSP00000382800:S407R;ENSP00000308051:S393R;ENSP00000343477:S407R;ENSP00000444872:S300R	ENSP00000308051:S393R	S	-	3	2	RUNX3	25101269	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.486000	0.35530	0.146000	0.19002	0.462000	0.41574	AGC			0.706	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000009284.1		NM_004350		T	25228682	G	T	25228682	3	4	89	1	0	0	0	0	1	0	0	0	13772	1194	42	2	72	2	RUNX3	1	25228682	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		25228682	224021939	1	6203											
IVL	3713	broad.mit.edu	37	chr1	152883011	152883011	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcagctggagctctcTgagcagcaggaggggcagct	8	5	19	9	0	1	1	0	1	1	0	2	4	1	3	0	6	5	7	0	6	0	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr1:152883011T>A	ENST00000368764.3	+	2	802	c.738T>A	c.(736-738)tcT>tcA	p.S246S	IVL_ENST00000392667.2_Silent_p.S100S			P07476	INVO_HUMAN	involucrin	246	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tggagctctctgagcagcagg	0.672																																					p.S246S													.	IVL	100		0			c.T738A												6	7	7					1																	152883011		1910	3809	5719	SO:0001819	synonymous_variant	3713	exon2			GCTCTCTGAGCAG	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.738T>A	1.37:g.152883011T>A			65	0	0		76	0.07	5	NM_005547	0		0	Q5T7P4	Silent	SNP	ENST00000368764.3	37	CCDS1030.1																																																																																					0.672	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034664.1		NM_005547		A	152883011	T	A	152883011	2	1	89	1	0	0	0	0	0	0	0	1	7944	1567	55	5		5	IVL	1	152883011	Silent	SNP	T	TCGA-SB-A6J6-01A-11D-A435-10	127654329	152883011	96367610	2	6204											
THBS3	7059	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	155172077	155172077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctggcccgggcatagtcaAtgcccacaccagacacctgt	9	7	10	15	1	1	1	1	0	0	1	1	1	1	1	4	2	2	2	4	2	2	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr1:155172077A>G	ENST00000368378.3	-	9	1093	c.1073T>C	c.(1072-1074)aTt>aCt	p.I358T	THBS3_ENST00000457183.2_Missense_Mutation_p.I238T|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	358					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)			GGCATAGTCAATGCCCACACC	0.602																																					p.I358T													.	THBS3	70		0			c.T1073C												92	85	87					1																	155172077		2203	4300	6503	SO:0001583	missense	7059	exon9			TAGTCAATGCCCA	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.1073T>C	1.37:g.155172077A>G	ENSP00000357362:p.Ile358Thr		58	0.0172413793	1		117	0.15	18	NM_007112	18	0.22	4	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572458	0.45798	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	T;D;D	0.87887	-1.49;-1.58;-2.31	5.44	5.44	0.79542	EGF-like calcium-binding (1);	0.304822	0.34245	N	0.004124	T	0.72391	0.3454	L	0.37850	1.14	0.28224	N	0.926393	B;B;B;B	0.16396	0.017;0.017;0.017;0.017	B;B;B;B	0.19946	0.027;0.018;0.018;0.018	T	0.65105	-0.6249	10	0.42905	T	0.14	-11.8776	13.502	0.61462	1.0:0.0:0.0:0.0	.	238;358;358;358	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	T	358;238;208	ENSP00000357362:I358T;ENSP00000392207:I238T;ENSP00000404040:I208T	ENSP00000357362:I358T	I	-	2	0	THBS3	153438701	0.037000	0.19845	0.960000	0.40013	0.996000	0.88848	3.134000	0.50538	2.288000	0.76882	0.533000	0.62120	ATT			0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086856.1		NM_007112		G	155172077	A	G	155172077	3	3	89	1	0	0	0	0	1	0	0	0	15878	101	4	4	1857	4	THBS3	1	155172077	Missense_Mutation	SNP	A	TCGA-SB-A6J6-01A-11D-A435-10	2289066	155172077	94078544	3	6205											
GPATCH4	54865	hgsc.bcm.edu	37	chr1	156568272	156568272	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgataccattctccttccGgccgaggcctttgcctgcag	6	11	10	14	2	1	1	0	1	1	0	3	2	2	1	6	2	3	1	6	2	1	4			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr1:156568272G>T	ENST00000438976.2	-	3	139	c.109C>A	c.(109-111)Cgg>Agg	p.R37R	GPATCH4_ENST00000334588.7_Intron|GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Silent_p.R32R			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	32	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTCCTTCCGGCCGAGGCCT	0.562																																					p.R37R													.	.			0			c.C109A												226	203	211					1																	156568272		2203	4300	6503	SO:0001819	synonymous_variant	54865	exon3			CCTTCCGGCCGAG	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.109C>A	1.37:g.156568272G>T			83	0	0		92	0.04	4	NM_015590	212	0	0	Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Silent	SNP	ENST00000438976.2	37	CCDS44245.1																																																																																					0.562	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386947.1		NM_017725		T	156568272	G	T	156568272	2	4	89	1	0	0	0	0	0	0	0	1	6607	1115	39	1		1	GPATCH4	1	156568272	Silent	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	1396195	156568272	92682349	4	6206											
SMG7	9887	broad.mit.edu	37	chr1	183514071	183514071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgttttgaagggtttcCgcccccaacatatgttatcc	7	15	7	12	1	1	1	0	1	1	0	3	1	3	1	4	1	1	3	4	1	4	6			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr1:183514071C>T	ENST00000347615.2	+	16	2113	c.1994C>T	c.(1993-1995)cCg>cTg	p.P665L	SMG7_ENST00000456731.2_Missense_Mutation_p.P577L|SMG7_ENST00000507469.1_Missense_Mutation_p.P619L|SMG7_ENST00000508461.1_Missense_Mutation_p.P623L|SMG7_ENST00000515829.2_Missense_Mutation_p.P619L|SMG7_ENST00000367537.3_Missense_Mutation_p.P648L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	665	Gln/Pro-rich.				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)	p.P665L(1)		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						GAAGGGTTTCCGCCCCCAACA	0.438																																					p.P665L													SMG7,colon,carcinoma,0,1	SMG7	165	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1994T												85	90	88					1																	183514071		2203	4300	6503	SO:0001583	missense	9887	exon16			GGTTTCCGCCCCC	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.1994C>T	1.37:g.183514071C>T	ENSP00000340766:p.Pro665Leu		117	0	0		129	0.02	3	NM_173156	210	0	1	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218021	0.79352	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.997;0.997;0.998;0.998;0.997	T	0.69942	-0.5008	10	0.59425	D	0.04	-11.3529	19.7629	0.96329	0.0:1.0:0.0:0.0	.	623;648;577;619;665;619	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	L	577;648;623;577;665;619;619	ENSP00000407629:P577L;ENSP00000356507:P648L;ENSP00000426915:P623L;ENSP00000388390:P577L;ENSP00000340766:P665L;ENSP00000425133:P619L;ENSP00000421358:P619L	ENSP00000340766:P665L	P	+	2	0	SMG7	181780694	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.123000	0.77176	2.666000	0.90696	0.561000	0.74099	CCG			0.438	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000085432.1		NM_014837		T	183514071	C	T	183514071	3	4	89	1	0	0	0	0	1	0	0	0	14821	652	23	1	2056	1	SMG7	1	183514071	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	26945799	183514071	65736550	5	6207											
C1orf65	164127	mdanderson.org	37	chr1	223566845	223566845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttcagccacttctcccagCcgccctaccgggatctctgg	5	9	9	18	2	3	0	1	0	2	0	5	1	3	1	5	2	3	1	5	2	1	3			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr1:223566845C>T	ENST00000366875.3	+	1	131	c.28C>T	c.(28-30)Ccg>Tcg	p.P10S		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		10										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CTTCTCCCAGCCGCCCTACCG	0.726																																					p.P10S													.	.			0			c.C28T												4	5	4					1																	223566845		1957	3936	5893	SO:0001583	missense	164127	exon1			TCCCAGCCGCCCT																												ENST00000366875.3:c.28C>T	1.37:g.223566845C>T	ENSP00000355840:p.Pro10Ser		34	0	0		47	0.06	3	NM_152610	0		0	Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246949	0.22796	.	.	ENSG00000178395	ENST00000366875	T	0.16743	2.32	3.81	0.668	0.17912	.	.	.	.	.	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.32851	-0.9891	9	0.45353	T	0.12	.	9.3757	0.38281	0.5598:0.4402:0.0:0.0	.	10	Q8N715	CA065_HUMAN	S	10	ENSP00000355840:P10S	ENSP00000355840:P10S	P	+	1	0	C1orf65	221633468	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.148000	0.10219	-0.046000	0.13446	0.563000	0.77884	CCG			0.726	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092718.1				T	223566845	C	T	223566845	3	4	89	1	0	0	0	0	1	0	0	0	2057	739	26	2	30	2	C1orf65	1	223566845	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	40052774	223566845	25683776	6	6208											
C1orf55	163859	broad.mit.edu	37	chr1	226186983	226186983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccgaagccagggccgcGaatccacaccagcgccgcgg	9	1	13	18	6	0	0	0	0	0	0	1	2	1	0	6	2	2	1	6	2	2	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr1:226186983G>T	ENST00000272091.7	-	1	49	c.31C>A	c.(31-33)Cgc>Agc	p.R11S		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	11																	CCAGGGCCGCGAATCCACACC	0.657																																					p.R11S													.	.			0			c.C31A												31	39	37					1																	226186983		2038	4177	6215	SO:0001583	missense	163859	exon1			GGCCGCGAATCCA	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.31C>A	1.37:g.226186983G>T	ENSP00000272091:p.Arg11Ser		75	0	0		107	0.04	4	NM_152608	32	0	0	A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822141	0.50739	.	.	ENSG00000143751	ENST00000272091;ENST00000366818	T	0.50277	0.75	5.34	3.34	0.38264	.	0.222293	0.42682	D	0.000667	T	0.54886	0.1886	M	0.69823	2.125	0.80722	D	1	D;D	0.69078	0.997;0.961	D;P	0.63703	0.917;0.67	T	0.59542	-0.7435	10	0.07644	T	0.81	-10.337	6.6014	0.22703	0.2132:0.0:0.7868:0.0	.	11;11	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	S	11	ENSP00000272091:R11S	ENSP00000272091:R11S	R	-	1	0	C1orf55	224253606	0.896000	0.30565	0.999000	0.59377	0.343000	0.28985	0.912000	0.28597	1.490000	0.48466	0.655000	0.94253	CGC			0.657	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091310.1		NM_152608		T	226186983	G	T	226186983	3	4	89	1	0	0	0	0	1	0	0	0	2049	1058	37	1	1352	1	C1orf55	1	226186983	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	2620138	226186983	23063638	7	6209											
BIRC6	57448	broad.mit.edu;mdanderson.org	37	chr2	32718725	32718725	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagctaattcatatactttCaactgaaaggtaaatttttg	15	15	5	6	0	2	1	2	1	0	0	2	1	2	1	0	1	3	2	0	1	8	8			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr2:32718725C>G	ENST00000421745.2	+	45	8593	c.8459C>G	c.(8458-8460)tCa>tGa	p.S2820*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2820					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)					CATATACTTTCAACTGAAAGG	0.299																																					p.S2820X	Pancreas(94;175 1509 16028 18060 45422)												.	BIRC6	838		0			c.C8459G												88	86	86					2																	32718725		2203	4298	6501	SO:0001587	stop_gained	57448	exon45			TACTTTCAACTGA	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.8459C>G	2.37:g.32718725C>G	ENSP00000393596:p.Ser2820*		47	0	0		63	0.1	6	NM_016252	100	0.24	24	Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	50	17.197292	0.99881	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.36	5.36	0.76844	.	0.073792	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.4604	0.94915	0.0:1.0:0.0:0.0	.	.	.	.	X	2820	.	ENSP00000393596:S2820X	S	+	2	0	BIRC6	32572229	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.336000	0.79245	2.678000	0.91216	0.460000	0.39030	TCA			0.299	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318769.3		NM_016252		G	32718725	C	G	32718725	4	3	89	1	0	0	0	0	0	1	0	0	1438	838	29	5	8637	5	BIRC6	2	32718725	Nonsense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10		32718725	210480648	8	6210											
FASTKD1	79675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	170403079	170403079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgtggcaaaactactcagGttatttaggtcacactgtgg	11	12	11	7	0	2	0	2	0	0	0	2	1	2	0	0	4	2	2	0	4	5	4			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr2:170403079G>A	ENST00000453153.2	-	8	1696	c.1350C>T	c.(1348-1350)aaC>aaT	p.N450N	FASTKD1_ENST00000453929.2_Silent_p.N450N	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	450					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AACTACTCAGGTTATTTAGGT	0.418																																					p.N450N													.	.			0			c.C1350T												80	80	80					2																	170403079		2203	4300	6503	SO:0001819	synonymous_variant	79675	exon8			ACTCAGGTTATTT	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1350C>T	2.37:g.170403079G>A			266	0	0		348	0.13	44	NM_024622	70	0.16	11	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																					0.418	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337788.2		NM_024622		A	170403079	G	A	170403079	2	1	89	1	0	0	0	0	0	0	0	1	5698	1252	44	3		3	FASTKD1	2	170403079	Silent	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	137684354	170403079	72796294	9	6211											
GAD1	2571	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	171687483	171687483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttccggctaagaacggtGaggagcaaaccgtgcaattc	11	8	12	10	3	0	2	0	1	0	1	2	3	1	3	2	3	5	4	2	3	4	3			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr2:171687483G>A	ENST00000358196.3	+	5	878	c.328G>A	c.(328-330)Gag>Aag	p.E110K	GAD1_ENST00000375272.1_Missense_Mutation_p.E110K|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.E110K	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	110					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TAAGAACGGTGAGGAGCAAAC	0.473																																					p.E110K													.	.			0			c.G328A												82	74	77					2																	171687483		2203	4300	6503	SO:0001583	missense	2571	exon5			AACGGTGAGGAGC		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.328G>A	2.37:g.171687483G>A	ENSP00000350928:p.Glu110Lys		87	0	0		121	0.1	12	NM_000817	0		0	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559995	0.86335	.	.	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;D;D	0.86030	2.28;0.36;0.36;-2.06;-1.79	5.9	5.9	0.94986	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	L	0.60845	1.875	0.80722	D	1	B;P	0.36249	0.07;0.545	B;B	0.33454	0.02;0.164	D	0.83422	0.0033	10	0.49607	T	0.09	-25.1994	20.2673	0.98463	0.0:0.0:1.0:0.0	.	110;110	Q99259;Q99259-3	DCE1_HUMAN;.	K	110	ENSP00000350928:E110K;ENSP00000364421:E110K;ENSP00000341167:E110K;ENSP00000405917:E110K;ENSP00000394255:E110K	ENSP00000341167:E110K	E	+	1	0	GAD1	171395729	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.476000	0.97823	2.786000	0.95864	0.643000	0.83706	GAG			0.473	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000102664.2				A	171687483	G	A	171687483	3	1	89	1	0	0	0	0	1	0	0	0	6192	1291	45	3	342	3	GAD1	2	171687483	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	1284404	171687483	71511890	10	6212											
STK11IP	114790	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	220467428	220467428	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccccgtctctctcagcGcctcttgtcagctctgcgtt	2	14	7	18	3	5	0	2	0	4	0	9	0	7	0	4	0	3	2	4	0	0	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr2:220467428G>A	ENST00000456909.1	+	7	638	c.548G>A	c.(547-549)cGc>cAc	p.R183H	STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Splice_Site_p.R194H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	194					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTCTCAGCGCCTCTTGTCA	0.552																																					p.R194H													.	.			0			c.G581A												136	137	136					2																	220467428		2054	4190	6244	SO:0001630	splice_region_variant	114790	exon7			CTCAGCGCCTCTT	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.547-1G>A	2.37:g.220467428G>A			118	0	0		195	0.07	14	NM_052902	64	0.13	8	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	G	13.25	2.181008	0.38511	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.22336	1.96;1.96	4.39	2.41	0.29592	.	0.537822	0.20014	N	0.101054	T	0.10680	0.0261	N	0.21448	0.665	0.29158	N	0.877961	B;B;B;B	0.27823	0.011;0.018;0.004;0.19	B;B;B;B	0.15484	0.004;0.003;0.003;0.013	T	0.10660	-1.0620	10	0.39692	T	0.17	-1.7066	4.6014	0.12356	0.4101:0.0:0.5899:0.0	.	194;194;194;194	B4DUE4;B4DII2;Q8N1F8-2;Q8N1F8	.;.;.;S11IP_HUMAN	H	183;194;194	ENSP00000389383:R183H;ENSP00000295641:R194H	ENSP00000295641:R194H	R	+	2	0	STK11IP	220175672	0.991000	0.36638	0.965000	0.40720	0.916000	0.54674	0.595000	0.24029	1.064000	0.40671	0.650000	0.86243	CGC			0.552	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000131432.1		NM_052902	Missense_Mutation	A	220467428	G	A	220467428	5	1	89	1	0	0	0	0	0	0	1	0	15311	1101	38	1	607	1	STK11IP	2	220467428	Splice_Site	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	48779945	220467428	22731945	11	6213											
PHLDB2	90102	broad.mit.edu	37	chr3	111603922	111603922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctaccctcagtgtccctgCcagtccacgagtggctcgga	6	10	10	15	2	2	0	1	0	1	0	5	2	4	1	4	2	2	1	4	2	1	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr3:111603922C>T	ENST00000431670.2	+	2	1409	c.998C>T	c.(997-999)gCc>gTc	p.A333V	PHLDB2_ENST00000481953.1_Missense_Mutation_p.A333V|PHLDB2_ENST00000478922.1_Missense_Mutation_p.A333V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.A333V|PHLDB2_ENST00000393925.3_Missense_Mutation_p.A333V|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A360V|PHLDB2_ENST00000477695.1_Missense_Mutation_p.A333V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	333						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						AGTGTCCCTGCCAGTCCACGA	0.483																																					p.A360V													.	PHLDB2	449		0			c.C1079T												67	70	69					3																	111603922		2203	4300	6503	SO:0001583	missense	90102	exon3			TCCCTGCCAGTCC		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.998C>T	3.37:g.111603922C>T	ENSP00000405405:p.Ala333Val		102	0	0		158	0.03	4	NM_001134437	10	0	0	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184668	0.78677	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.33216	1.42;1.44;1.43;1.43;1.44;1.43	5.78	4.9	0.64082	.	0.240452	0.42964	D	0.000639	T	0.37156	0.0993	L	0.47716	1.5	0.37210	D	0.904762	B;P;P;B;B	0.50272	0.009;0.787;0.933;0.277;0.277	B;P;P;B;B	0.49226	0.006;0.603;0.599;0.157;0.157	T	0.46005	-0.9222	10	0.62326	D	0.03	.	14.1938	0.65656	0.0:0.833:0.167:0.0	.	333;333;333;333;360	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	V	360;360;333;333;333;333;333;333;333	ENSP00000377500:A360V;ENSP00000405405:A333V;ENSP00000405292:A333V;ENSP00000418296:A333V;ENSP00000377502:A333V;ENSP00000418319:A333V	ENSP00000352764:A360V	A	+	2	0	PHLDB2	113086612	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.824000	0.55723	1.548000	0.49413	0.655000	0.94253	GCC			0.483	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354337.1		NM_145753		T	111603922	C	T	111603922	3	4	89	1	0	0	0	0	1	0	0	0	11869	739	26	2	1085	2	PHLDB2	3	111603922	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10		111603922	86418508	12	6214											
DGKQ	1609	mdanderson.org	37	chr4	961070	961070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccagcccaggcgtcacagGcctgagaggaagggggcagc	9	2	16	14	1	1	1	1	1	0	1	1	3	1	2	4	5	2	1	4	5	1	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr4:961070G>T	ENST00000273814.3	-	9	1140	c.1067C>A	c.(1066-1068)gCc>gAc	p.A356D	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	356					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)			GGCGTCACAGGCCTGAGAGGA	0.711																																					p.A356D	Esophageal Squamous(17;537 645 4447 26373)												.	.			0			c.C1067A												7	10	9					4																	961070		2059	4044	6103	SO:0001583	missense	1609	exon9			TCACAGGCCTGAG	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.1067C>A	4.37:g.961070G>T	ENSP00000273814:p.Ala356Asp		8	0	0		19	0.11	2	NM_001347	6	0	0	Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.189|9.189	1.025622|1.025622	0.19512|0.19512	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814|ENST00000509465	T|.	0.80566|.	-1.39|.	4.92|4.92	2.24|2.24	0.28232|0.28232	.|.	1.252900|.	0.05228|.	N|.	0.509779|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;P|.	0.42409|.	0.309;0.779|.	B;B|.	0.31191|.	0.08;0.125|.	T|T	0.25502|0.25502	-1.0130|-1.0130	10|5	0.14252|.	T|.	0.57|.	.|.	6.3255|6.3255	0.21240|0.21240	0.3099:0.0:0.6901:0.0|0.3099:0.0:0.6901:0.0	.|.	356;356|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	D|T	356|303	ENSP00000273814:A356D|.	ENSP00000273814:A356D|.	A|P	-|-	2|1	0|0	DGKQ|DGKQ	951070|951070	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.009000|0.009000	0.06853|0.06853	0.793000|0.793000	0.26944|0.26944	0.500000|0.500000	0.27991|0.27991	0.650000|0.650000	0.86243|0.86243	GCC|CCT			0.711	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000200888.1				T	961070	G	T	961070	3	4	89	1	0	0	0	0	1	0	0	0	4478	1203	42	2	1821	2	DGKQ	4	961070	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		961070	190193206	13	6215											
RUFY3	22902	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr4	71659590	71659590	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacaagatcaacagtctgCagctggaagtcgaggagctc	13	6	13	9	1	2	2	1	0	1	2	4	6	2	4	0	2	4	3	0	2	3	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr4:71659590C>T	ENST00000226328.4	+	0	4233				RUFY3_ENST00000381006.3_Nonsense_Mutation_p.Q476*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.Q423*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						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)			CAACAGTCTGCAGCTGGAAGT	0.547																																					p.Q476X													.	.			0			c.C1426T												47	43	44					4																	71659590		2203	4300	6503	SO:0001628	intergenic_variant	22902	exon13			AGTCTGCAGCTGG	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		4.37:g.71659590C>T			153	0	0		226	0.1	23	NM_001037442	42	0.12	5	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Nonsense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	40	8.100359	0.98654	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-18.3914	20.1991	0.98252	0.0:1.0:0.0:0.0	.	.	.	.	X	476;423	.	ENSP00000370394:Q476X	Q	+	1	0	RUFY3	71878454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.461000	0.80834	2.775000	0.95449	0.650000	0.86243	CAG			0.547	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252161.2		NM_014961		T	71659590	C	T	71659590	1	4	89	0	1	0	0	0	0	0	0	0	13763	711	25	2		2	RUFY3	4	71659590	IGR	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	70698520	71659590	119494686	14	6216											
ATOH1	474	broad.mit.edu	37	chr4	94750181	94750181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaaccgccgccgccgcCgcagccacctgcaactttgc	6	4	9	22	6	0	0	0	0	0	0	0	0	0	0	8	0	5	3	8	0	2	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr4:94750181C>A	ENST00000306011.3	+	1	140	c.104C>A	c.(103-105)cCg>cAg	p.P35Q		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	35	Poly-Pro.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CCGCCGCCGCCGCAGCCACCT	0.672																																					p.P35Q													ATOH1,rectum,carcinoma,0,1	ATOH1	40	1	0			c.C104A												23	26	25					4																	94750181		2197	4289	6486	SO:0001583	missense	474	exon1			CGCCGCCGCAGCC	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.104C>A	4.37:g.94750181C>A	ENSP00000302216:p.Pro35Gln		156	0.0064102564	1		172	0.02	4	NM_005172	0		0	Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006290	0.19199	.	.	ENSG00000172238	ENST00000306011	D	0.99089	-5.41	4.2	4.2	0.49525	.	.	.	.	.	D	0.95733	0.8612	N	0.08118	0	0.27740	N	0.944506	P	0.42039	0.769	B	0.39738	0.308	D	0.92211	0.5776	9	0.35671	T	0.21	-8.1124	14.1101	0.65115	0.0:1.0:0.0:0.0	.	35	Q92858	ATOH1_HUMAN	Q	35	ENSP00000302216:P35Q	ENSP00000302216:P35Q	P	+	2	0	ATOH1	94969204	0.036000	0.19791	0.408000	0.26446	0.011000	0.07611	0.804000	0.27098	2.173000	0.68751	0.573000	0.79308	CCG			0.672	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253585.1		NM_005172		A	94750181	C	A	94750181	3	1	89	1	0	0	0	0	1	0	0	0	1112	652	23	1	106	1	ATOH1	4	94750181	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	23090591	94750181	96404095	15	6217											
POU4F2	5458	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	147560512	147560512	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgaagcagcagctccAgcagcagtggcagcagcggc	10	2	16	13	2	0	0	0	0	0	0	1	2	1	0	2	3	7	7	2	3	1	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr4:147560512A>T	ENST00000281321.3	+	1	468	c.220A>T	c.(220-222)Agc>Tgc	p.S74C	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	74	Poly-Ser.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	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 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)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					cagcagctccagcagcagtgg	0.721																																					p.S74C													POU4F2,NS,carcinoma,0,1	POU4F2	0	1	0			c.A220T												9	12	11					4																	147560512		1924	3841	5765	SO:0001583	missense	5458	exon1			AGCTCCAGCAGCA	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.220A>T	4.37:g.147560512A>T	ENSP00000281321:p.Ser74Cys		70	0	0		75	0.11	8	NM_004575	0		0	B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106109	0.56291	.	.	ENSG00000151615	ENST00000281321	T	0.25579	1.79	5.21	2.46	0.29980	.	0.320898	0.24703	N	0.036287	T	0.10380	0.0254	N	0.14661	0.345	0.28424	N	0.917602	P	0.41214	0.742	B	0.28553	0.091	T	0.13335	-1.0513	10	0.51188	T	0.08	.	6.7672	0.23573	0.783:0.0:0.217:0.0	.	74	Q12837	PO4F2_HUMAN	C	74	ENSP00000281321:S74C	ENSP00000281321:S74C	S	+	1	0	POU4F2	147779962	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	3.052000	0.49893	0.835000	0.34877	0.459000	0.35465	AGC			0.721	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367020.1		NM_004575		T	147560512	A	T	147560512	3	4	89	1	0	0	0	0	1	0	0	0	12296	188	7	5	222	5	POU4F2	4	147560512	Missense_Mutation	SNP	A	TCGA-SB-A6J6-01A-11D-A435-10	52810331	147560512	43593764	16	6218											
IK	3550	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140032730	140032730	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggccccactgctgaggcGtgagtactgagggaacaggg	8	7	17	9	1	0	3	0	3	0	0	0	4	0	4	2	4	3	3	2	4	2	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr5:140032730G>A	ENST00000417647.2	+	5	543		c.e5+1			NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II						cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.?(1)		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)			CTGCTGAGGCGTGAGTACTGA	0.502																																					.													IK_ENST00000417647,NS,carcinoma,0,1	IK	46	1	1	Unknown(1)	lung(1)	c.404+1G>A												80	79	79					5																	140032730		1953	4147	6100	SO:0001630	splice_region_variant	3550	exon5			TGAGGCGTGAGTA	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.404+1G>A	5.37:g.140032730G>A			30	0	0		34	0.12	4	NM_006083	22	0.09	2	Q6IPD8	Splice_Site	SNP	ENST00000417647.2	37	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876737	0.91664	.	.	ENSG00000113141	ENST00000417647;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9686	0.97276	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IK	140012914	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.575000	0.98187	2.820000	0.97059	0.650000	0.86243	.			0.502	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372897.1		NM_006083	Intron	A	140032730	G	A	140032730	5	1	89	1	0	0	0	0	0	0	1	0	7623	1159	40	1	423	1	IK	5	140032730	Splice_Site	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		140032730	40882530	17	6219											
RGS14	10636	mdanderson.org	37	chr5	176793307	176793307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtggccagctgggcccTgtccttcgagcggctgttgc	2	10	15	14	2	0	0	0	0	0	0	2	1	1	0	4	3	3	3	4	3	0	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr5:176793307T>C	ENST00000408923.3	+	3	385	c.197T>C	c.(196-198)cTg>cCg	p.L66P		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	66					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGGGCCCTGTCCTTCGAG	0.687																																					p.L66P	NSCLC(47;353 1896 28036)												.	.			0			c.T197C												7	12	11					5																	176793307		1922	4083	6005	SO:0001583	missense	10636	exon3			GGGCCCTGTCCTT	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.197T>C	5.37:g.176793307T>C	ENSP00000386229:p.Leu66Pro		59	0	0		49	0.06	3	NM_006480	28	0	0	O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.624805	0.46840	.	.	ENSG00000169220	ENST00000408923	T	0.02472	4.28	3.91	2.69	0.31865	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.188723	0.34986	N	0.003531	T	0.04770	0.0129	L	0.54323	1.7	0.49582	D	0.999807	B	0.26400	0.148	B	0.37047	0.24	T	0.38067	-0.9678	10	0.39692	T	0.17	-6.9246	7.9703	0.30124	0.4133:0.0:0.0:0.5867	.	66	O43566	RGS14_HUMAN	P	66	ENSP00000386229:L66P	ENSP00000386229:L66P	L	+	2	0	RGS14	176725913	0.964000	0.33143	0.999000	0.59377	0.994000	0.84299	3.025000	0.49681	0.523000	0.28482	0.363000	0.22086	CTG			0.687	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372676.1		NM_006480		C	176793307	T	C	176793307	3	2	89	1	0	0	0	0	1	0	0	0	13320	1580	55	4	207	4	RGS14	5	176793307	Missense_Mutation	SNP	T	TCGA-SB-A6J6-01A-11D-A435-10	36760577	176793307	4121953	18	6220											
TTBK1	84630	mdanderson.org	37	chr6	43251731	43251731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggagcaagcgggctcggCcgcagcaggacctggcgcgg	6	3	20	12	5	0	0	0	0	0	0	1	2	0	2	2	7	3	4	2	7	1	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr6:43251731C>T	ENST00000259750.4	+	14	3336	c.3253C>T	c.(3253-3255)Ccg>Tcg	p.P1085S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1085					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCGGGCTCGGCCGCAGCAGGA	0.697																																					p.P1085S													.	.			0			c.C3253T												9	11	10					6																	43251731		2161	4213	6374	SO:0001583	missense	84630	exon14			GCTCGGCCGCAGC	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3253C>T	6.37:g.43251731C>T	ENSP00000259750:p.Pro1085Ser		36	0	0		33	0.09	3	NM_032538	2	0	0	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285485	0.23478	.	.	ENSG00000146216	ENST00000259750	T	0.48522	0.81	5.15	4.25	0.50352	.	0.952941	0.08573	N	0.925709	T	0.17959	0.0431	L	0.34521	1.04	0.80722	D	1	B	0.26672	0.156	B	0.21917	0.037	T	0.11717	-1.0576	10	0.22109	T	0.4	.	8.1255	0.30997	0.2944:0.5547:0.1509:0.0	.	1085	Q5TCY1	TTBK1_HUMAN	S	1085	ENSP00000259750:P1085S	ENSP00000259750:P1085S	P	+	1	0	TTBK1	43359709	0.977000	0.34250	0.959000	0.39883	0.257000	0.26127	0.860000	0.27871	1.096000	0.41439	0.555000	0.69702	CCG			0.697	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040584.3				T	43251731	C	T	43251731	3	4	89	1	0	0	0	0	1	0	0	0	16700	739	26	2	3303	2	TTBK1	6	43251731	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10		43251731	127863336	19	6221											
RUNX2	860	hgsc.bcm.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	10	1	18	12	4	0	0	0	0	0	0	0	1	0	1	0	6	7	7	0	6	1	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																					p.Q71E													RUNX2_ENST00000352853,NS,carcinoma,0,2	RUNX2_ENST00000352853	0	2	0			c.C211G												6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860	exon3			CAGCAGCAGGAGG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu		18	0.0555555556	1		26	0.15	4	NM_001024630	1	0	0	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG			0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040755.2		NM_004348		G	45390482	C	G	45390482	3	3	89	1	0	0	0	0	1	0	0	0	13771	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	2138751	45390482	125724585	20	6222											
BAI3	577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	69723993	69723993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaatgggaagatgcaCaacaggtaaggttagggtta	17	7	14	3	0	0	1	0	0	0	1	0	3	0	3	0	5	2	4	0	5	7	3			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr6:69723993C>A	ENST00000370598.1	+	12	2814	c.1993C>A	c.(1993-1995)Caa>Aaa	p.Q665K		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	665					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)				GGAAGATGCACAACAGGTAAG	0.294																																					p.Q665K													.	.			0			c.C1993A												65	68	67					6																	69723993		2203	4300	6503	SO:0001583	missense	577	exon12			GATGCACAACAGG	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.1993C>A	6.37:g.69723993C>A	ENSP00000359630:p.Gln665Lys		273	0	0		369	0.22	80	NM_001704	0		0	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729052	0.89390	.	.	ENSG00000135298	ENST00000370598	T	0.11277	2.79	5.76	5.76	0.90799	Domain of unknown function DUF3497 (1);	0.060473	0.64402	D	0.000002	T	0.23886	0.0578	M	0.68317	2.08	0.80722	D	1	D	0.61697	0.99	P	0.61722	0.893	T	0.00529	-1.1687	10	0.87932	D	0	.	19.952	0.97200	0.0:1.0:0.0:0.0	.	665	O60242	BAI3_HUMAN	K	665	ENSP00000359630:Q665K	ENSP00000359630:Q665K	Q	+	1	0	BAI3	69780714	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.949000	0.75971	2.728000	0.93425	0.655000	0.94253	CAA			0.294	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041120.1				A	69723993	C	A	69723993	3	1	89	1	0	0	0	0	1	0	0	0	1300	479	17	3	2031	3	BAI3	6	69723993	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	24333511	69723993	101391074	21	6223											
COL9A1	1297	mdanderson.org	37	chr6	70978539	70978539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcctggatatcctgagcGacctggtggacaggcattgg	8	9	15	9	1	0	1	0	1	0	0	1	4	1	3	3	6	1	1	3	6	2	3			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr6:70978539G>T	ENST00000357250.6	-	17	1413	c.1255C>A	c.(1255-1257)Cgc>Agc	p.R419S	COL9A1_ENST00000320755.7_Missense_Mutation_p.R176S|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.R176S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	419	Collagen-like 4.|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)	p.R419G(1)|p.R176G(1)		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						TATCCTGAGCGACCTGGTGGA	0.458																																					p.R419S													COL9A1_ENST00000320755,NS,carcinoma,0,2	COL9A1_ENST00000320755	0	2	2	Substitution - Missense(2)	lung(2)	c.C1255A												86	87	87					6																	70978539		2203	4300	6503	SO:0001583	missense	1297	exon17			CTGAGCGACCTGG		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.1255C>A	6.37:g.70978539G>T	ENSP00000349790:p.Arg419Ser		36	0	0		47	0.06	3	NM_001851	0		0	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142644	0.57044	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.92647	-3.08;-3.08;-3.08	5.54	5.54	0.83059	.	0.179276	0.52532	D	0.000063	T	0.81631	0.4863	N	0.10874	0.06	0.48571	D	0.999671	P;P	0.47350	0.894;0.677	P;B	0.49421	0.61;0.198	T	0.82250	-0.0550	10	0.09590	T	0.72	.	16.4154	0.83732	0.0:0.0:1.0:0.0	.	419;176	P20849;P20849-2	CO9A1_HUMAN;.	S	419;176;176	ENSP00000349790:R419S;ENSP00000315252:R176S;ENSP00000359530:R176S	ENSP00000315252:R176S	R	-	1	0	COL9A1	71035260	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	5.120000	0.64685	2.598000	0.87819	0.650000	0.86243	CGC			0.458	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041131.2				T	70978539	G	T	70978539	3	4	89	1	0	0	0	0	1	0	0	0	3709	1058	37	1	1598	1	COL9A1	6	70978539	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	1254546	70978539	100136528	22	6224											
SLC22A16	85413	ucsc.edu	37	chr6	110752416	110752416	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgaggtccacagagaaCggcgccaggatgctggccag	9	5	15	12	2	0	2	0	1	0	1	1	4	1	3	3	4	3	2	3	4	1	0	rs142454497		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr6:110752416C>T	ENST00000368919.3	-	7	1545	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	SLC22A16_ENST00000330550.4_Silent_p.P459P|SLC22A16_ENST00000439654.1_Silent_p.P493P	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	493					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)	CCACAGAGAACGGCGCCAGGA	0.572																																					p.P493P													.	SLC22A16	81		0			c.G1479A							C		0,4406		0,0,2203	95	86	89		1479	-10.8	0	6	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC22A16	NM_033125.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		493/578	110752416	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85413	exon7			AGAGAACGGCGCC		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.1479G>A	6.37:g.110752416C>T			32	0	0		37	0.11	4	NM_033125	0		0	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	CCDS5084.1																																																																																					0.572	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043428.1		NM_033125		T	110752416	C	T	110752416	2	4	89	1	0	0	0	0	0	0	0	1	14470	523	19	1		1	SLC22A16	6	110752416	Silent	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	39773877	110752416	60362651	23	6225											
SHPRH	257218	mdanderson.org	37	chr6	146248330	146248330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtctttacttacttgaaGtgaatcagttttgagttttc	9	20	7	5	0	2	3	1	3	1	0	3	3	2	3	0	0	2	2	0	0	5	9			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr6:146248330G>T	ENST00000367505.2	-	15	3460	c.3196C>A	c.(3196-3198)Ctt>Att	p.L1066I	SHPRH_ENST00000438092.2_Missense_Mutation_p.L1075I|SHPRH_ENST00000367503.3_Missense_Mutation_p.L1075I|SHPRH_ENST00000275233.7_Missense_Mutation_p.L1066I			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1066					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTACTTGAAGTGAATCAGTT	0.333																																					p.L1075I													.	.			0			c.C3223A												159	134	141					6																	146248330		1833	4084	5917	SO:0001583	missense	257218	exon15			CTTGAAGTGAATC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3196C>A	6.37:g.146248330G>T	ENSP00000356475:p.Leu1066Ile		29	0	0		47	0.06	3	NM_173082	11	0	0	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994540	0.74703	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.78707	-1.2;-1.14;-1.15;-1.2	5.55	4.45	0.53987	.	0.000000	0.56097	D	0.000021	T	0.80319	0.4601	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.994;0.998	T	0.80502	-0.1354	10	0.42905	T	0.14	-17.1556	4.0965	0.09993	0.3162:0.0:0.6838:0.0	.	1066;1075	Q149N8;Q149N8-4	SHPRH_HUMAN;.	I	1066;1075;1075;1066	ENSP00000356475:L1066I;ENSP00000356473:L1075I;ENSP00000412797:L1075I;ENSP00000275233:L1066I	ENSP00000275233:L1066I	L	-	1	0	SHPRH	146290023	0.999000	0.42202	0.950000	0.38849	0.977000	0.68977	2.885000	0.48570	2.767000	0.95098	0.557000	0.71058	CTT			0.333	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000042571.2		NM_173082		T	146248330	G	T	146248330	3	4	89	1	0	0	0	0	1	0	0	0	14314	1029	36	3	1936	3	SHPRH	6	146248330	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	35495914	146248330	24866737	24	6226											
CDK14	5218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	90585027	90585027	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaggtcttgcaagagcaaAatccgtccctagccacacat	13	7	7	14	1	1	1	0	0	1	1	3	1	3	1	3	1	3	2	3	1	4	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr7:90585027A>T	ENST00000380050.3	+	9	973	c.842A>T	c.(841-843)aAa>aTa	p.K281I	CDK14_ENST00000265741.3_Missense_Mutation_p.K263I|CDK14_ENST00000406263.1_Missense_Mutation_p.K235I|CDK14_ENST00000436577.2_Missense_Mutation_p.K152I			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCAAGAGCAAAATCCGTCCCT	0.418																																					p.K263I	GBM(83;1228 1256 8311 16577 31299)												.	.			0			c.A788T												168	145	153					7																	90585027		2203	4300	6503	SO:0001583	missense	5218	exon8			GAGCAAAATCCGT		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.842A>T	7.37:g.90585027A>T	ENSP00000369390:p.Lys281Ile		59	0	0		99	0.11	11	NM_012395	6	0	0	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37		.	.	.	.	.	.	.	.	.	.	A	20.8	4.047132	0.75846	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	N	0.01146	-0.985	0.80722	D	1	D;P;D	0.76494	0.997;0.724;0.999	D;B;D	0.87578	0.996;0.348;0.998	T	0.71543	-0.4561	10	0.40728	T	0.16	-17.1798	16.6512	0.85203	1.0:0.0:0.0:0.0	.	152;263;281	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	I	281;263;235;152	ENSP00000369390:K281I;ENSP00000265741:K263I;ENSP00000385034:K235I;ENSP00000398936:K152I	ENSP00000265741:K263I	K	+	2	0	CDK14	90422963	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	AAA			0.418	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000059970.5		NM_012395		T	90585027	A	T	90585027	3	4	89	1	0	0	0	0	1	0	0	0	3132	14	1	5	818	5	CDK14	7	90585027	Missense_Mutation	SNP	A	TCGA-SB-A6J6-01A-11D-A435-10		90585027	68553636	25	6227											
C7orf64	84060	broad.mit.edu	37	chr7	92164020	92164021	+	Frame_Shift_Del	DEL	TT	TT	-																															cggaaaacacagataaactcTttgaaaaactcagtggcctg																										TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr7:92164020_92164021delTT	ENST00000265732.5	+	4	794_795	c.753_754delTT	c.(751-756)tctttgfs	p.L252fs	RBM48_ENST00000481551.1_Frame_Shift_Del_p.L252fs	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	252						nucleus (GO:0005634)	RNA binding (GO:0003723)										AGATAAACTCTTTGAAAAACTC	0.446																																					p.251_252del													.	.			0			c.753_754del																																									SO:0001589	frameshift_variant	84060	exon4			AAACTCTTTGAAA	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.753_754delTT	7.37:g.92164020_92164021delTT	ENSP00000265732:p.Leu252fs		46	0	0		92	0.09	8	NM_032120	82	0	0	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Frame_Shift_Del	DEL	ENST00000265732.5	37	CCDS43615.1																																																																																					0.446	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356076.1		NM_032120		-	92164021	TT	-	92164020	7	5	89	1	0	1	0	1	0	0	0	0	2412	1596	56	0	767	0	C7orf64	7	92164020	Frame_Shift_Del	DEL	TT	TCGA-SB-A6J6-01A-11D-A435-10	1578993	92164020	66974643	26	6228											
LAMB4	22798	mdanderson.org	37	chr7	107717416	107717416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggacatgtgaatgagcGtgggactctccttgcaaagg	11	8	13	9	1	1	2	0	2	1	0	2	4	1	4	2	3	2	1	2	3	2	1	rs144579218		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr7:107717416G>T	ENST00000388781.3	-	17	2180	c.2097C>A	c.(2095-2097)caC>caA	p.H699Q	LAMB4_ENST00000414450.2_Missense_Mutation_p.H699Q|LAMB4_ENST00000205386.4_Missense_Mutation_p.H699Q|LAMB4_ENST00000388780.3_Missense_Mutation_p.H699Q|LAMB4_ENST00000418464.1_Missense_Mutation_p.H699Q	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	699	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				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						GTGAATGAGCGTGGGACTCTC	0.418																																					p.H699Q													.	.			0			c.C2097A												114	116	116					7																	107717416		2203	4300	6503	SO:0001583	missense	22798	exon17			ATGAGCGTGGGAC	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.2097C>A	7.37:g.107717416G>T	ENSP00000373433:p.His699Gln		18	0	0		49	0.06	3	NM_007356	2	0	0	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	0.136	-1.107831	0.01813	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.30448	1.55;1.55;1.57;1.53;1.56	5.3	-7.95	0.01148	Laminin IV (1);	1.180180	0.06147	N	0.673462	T	0.19366	0.0465	L	0.48642	1.525	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21484	-1.0244	10	0.25751	T	0.34	.	4.1981	0.10453	0.4541:0.2172:0.2534:0.0753	.	699	A4D0S4	LAMB4_HUMAN	Q	699	ENSP00000205386:H699Q;ENSP00000373433:H699Q;ENSP00000373432:H699Q;ENSP00000402353:H699Q;ENSP00000402265:H699Q	ENSP00000205386:H699Q	H	-	3	2	LAMB4	107504652	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.807000	0.04520	-1.427000	0.01992	-0.122000	0.15005	CAC			0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337442.1		XM_209857		T	107717416	G	T	107717416	3	4	89	1	0	0	0	0	1	0	0	0	8628	1136	40	1	3260	1	LAMB4	7	107717416	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	15553396	107717416	51421247	27	6229											
C7orf29	113763	mdanderson.org	37	chr7	150027654	150027654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgaggggttggcccGgcagctctgcaccgactgtc	4	8	16	13	2	1	1	0	1	1	0	2	2	1	1	2	5	2	6	2	5	0	1	rs371078860		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr7:150027654G>A	ENST00000343855.4	+	1	717	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	54																	GGGTTGGCCCGGCAGCTCTGC	0.607																																					p.R54Q													.	.			0			c.G161A												98	102	101					7																	150027654		2203	4300	6503	SO:0001583	missense	113763	exon1			TGGCCCGGCAGCT	BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"chromosome 7 open reading frame 29"	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.161G>A	7.37:g.150027654G>A	ENSP00000343242:p.Arg54Gln		40	0	0		50	0.06	3	NM_138434	29	0	0		Missense_Mutation	SNP	ENST00000343855.4	37	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690915	0.29962	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.93	2.76	0.32466	.	0.000000	0.35013	U	0.003502	T	0.21881	0.0527	N	0.08118	0	0.23036	N	0.998392	B	0.17038	0.02	B	0.08055	0.003	T	0.19910	-1.0291	9	0.72032	D	0.01	.	9.0509	0.36376	0.0:0.0:0.187:0.813	.	54	Q96FA7	CG029_HUMAN	Q	54	.	ENSP00000343242:R54Q	R	+	2	0	C7orf29	149658587	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	2.550000	0.45811	0.523000	0.28482	-0.385000	0.06624	CGG			0.607	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350702.1		NM_138434		A	150027654	G	A	150027654	3	1	89	1	0	0	0	0	1	0	0	0	2387	1116	39	1	163	1	C7orf29	7	150027654	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	42310238	150027654	9111009	28	6230											
XKR9	389668	mdanderson.org	37	chr8	71646627	71646627	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaaaccagttctaagaGaatgtagaatgagatatttc	17	11	9	4	0	1	3	0	1	1	3	2	6	1	4	1	1	1	2	1	1	7	5			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr8:71646627G>T	ENST00000408926.3	+	5	1624	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	XKR9_ENST00000520030.1_Nonsense_Mutation_p.E364*|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	364						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGTTCTAAGAGAATGTAGAAT	0.274																																					p.E364X													.	.			0			c.G1090T												36	38	37					8																	71646627		2189	4289	6478	SO:0001587	stop_gained	389668	exon5			CTAAGAGAATGTA	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.1090G>T	8.37:g.71646627G>T	ENSP00000386141:p.Glu364*		29	0	0		49	0.06	3	NM_001011720	3	0	0	B2RNS9|B9EH74	Nonsense_Mutation	SNP	ENST00000408926.3	37	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249337	0.95305	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	.	.	.	4.98	0.897	0.19258	.	1.012730	0.07895	N	0.971662	.	.	.	.	.	.	0.51233	D	0.999915	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-0.1361	2.0611	0.03592	0.1885:0.1182:0.4517:0.2416	.	.	.	.	X	364	.	ENSP00000386141:E364X	E	+	1	0	XKR9	71809181	0.897000	0.30589	0.527000	0.27925	0.489000	0.33432	1.973000	0.40550	-0.016000	0.14127	0.557000	0.71058	GAA			0.274	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378752.1		NM_001011720		T	71646627	G	T	71646627	4	4	89	1	0	0	0	0	0	1	0	0	17462	943	33	3	1100	3	XKR9	8	71646627	Nonsense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		71646627	74717395	29	6231											
SCRIB	23513	mdanderson.org	37	chr8	144886905	144886905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagggcccccagcctcccGctccaacagcagggcgatgg	9	3	13	16	2	0	1	0	0	0	1	2	2	2	1	5	3	3	2	5	3	2	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr8:144886905G>A	ENST00000320476.3	-	21	2848	c.2842C>T	c.(2842-2844)Cgg>Tgg	p.R948W	SCRIB_ENST00000377533.3_Missense_Mutation_p.R867W|SCRIB_ENST00000356994.2_Missense_Mutation_p.R948W	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	948	Interaction with ARHGEF7.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCAGCCTCCCGCTCCAACAGC	0.662																																					p.R948W	Pancreas(51;966 1133 10533 14576 29674)												.	.			0			c.C2842T												24	24	24					8																	144886905		2197	4298	6495	SO:0001583	missense	23513	exon21			CCTCCCGCTCCAA	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2842C>T	8.37:g.144886905G>A	ENSP00000322938:p.Arg948Trp		25	0	0		27	0.11	3	NM_182706	228	0	0	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989520	0.53934	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.55588	0.51;0.51;0.51	4.09	3.1	0.35709	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.76219	0.3957	H	0.95187	3.635	0.46131	D	0.998888	D;D	0.89917	1.0;1.0	P;D	0.70935	0.908;0.971	T	0.77563	-0.2541	9	0.87932	D	0	.	7.5463	0.27768	0.0:0.1393:0.3133:0.5474	.	948;948	Q14160;Q14160-3	SCRIB_HUMAN;.	W	948;948;867;317	ENSP00000349486:R948W;ENSP00000322938:R948W;ENSP00000366756:R867W	ENSP00000322938:R948W	R	-	1	2	SCRIB	144958893	1.000000	0.71417	0.988000	0.46212	0.460000	0.32559	2.017000	0.40981	0.699000	0.31761	0.448000	0.29417	CGG			0.662	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000382215.1		NM_015356		A	144886905	G	A	144886905	3	1	89	1	0	0	0	0	1	0	0	0	13960	1086	38	1	2193	1	SCRIB	8	144886905	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	73240278	144886905	1477117	30	6232											
EPPK1	83481	broad.mit.edu	37	chr8	144940690	144940690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccacatggcctggtagatGctcatcttctcctggcggcc	5	12	10	14	1	3	1	1	0	2	1	5	1	4	1	4	4	1	2	4	4	1	3			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr8:144940690G>A	ENST00000525985.1	-	2	6803	c.6732C>T	c.(6730-6732)agC>agT	p.S2244S				P58107	EPIPL_HUMAN	epiplakin 1	2244						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)			CCTGGTAGATGCTCATCTTCT	0.711																																					p.S2244S													.	EPPK1	199		0			c.C6732T												63	61	61					8																	144940690		2185	4252	6437	SO:0001819	synonymous_variant	83481	exon1			GTAGATGCTCATC	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.6732C>T	8.37:g.144940690G>A			41	0.0243902439	1		58	0.07	4	NM_031308	103	0.12	12	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																						0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382675.1		NM_031308		A	144940690	G	A	144940690	2	1	89	1	0	0	0	0	0	0	0	1	5197	1310	46	2		2	EPPK1	8	144940690	Silent	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	53785	144940690	1423332	31	6233											
OPLAH	26873	broad.mit.edu	37	chr8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgcctggcgcccgcaggGcctccgtcaccgctggatgg	3	7	14	17	4	1	0	1	0	0	0	2	1	2	1	6	4	1	2	6	4	0	1	rs186909122		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900					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)			CGCCCGCAGGGCCTCCGTCAC	0.647																																					p.A900D													.	OPLAH	78		0			c.C2699A												44	52	50					8																	145108284		2081	4210	6291	SO:0001583	missense	26873	exon20			CGCAGGGCCTCCG	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.2699C>A	8.37:g.145108284G>T	ENSP00000475943:p.Ala900Asp		38	0	0		70	0.09	6	NM_017570	14	0	0	A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		.	.	.	.	.	.	.	.	.	.	G	14.54	2.564475	0.45694	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	3.44	0.39384	.	0.106428	0.64402	D	0.000007	T	0.48132	0.1483	.	.	.	0.52099	D	0.999941	B	0.18863	0.031	B	0.25405	0.06	T	0.61317	-0.7087	7	0.62326	D	0.03	.	10.7882	0.46417	0.1156:0.0:0.8844:0.0	.	900	O14841	OPLA_HUMAN	D	900	.	ENSP00000412071:A900D	A	-	2	0	OPLAH	145180272	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.294000	0.51787	2.069000	0.61940	0.448000	0.29417	GCC			0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_017570		T	145108284	G	T	145108284	3	4	89	1	0	0	0	0	1	0	0	0	10893	1203	42	2	1201	2	OPLAH	8	145108284	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	167594	145108284	1255738	32	6234											
JAK2	3717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	5080316	5080316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacagacaaatggagttttgGtaccactttgtgggaaatct	13	12	10	6	0	1	1	0	0	1	1	1	3	1	3	1	3	2	2	1	3	4	4	rs368219482		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr9:5080316G>T	ENST00000381652.3	+	17	2713	c.2219G>T	c.(2218-2220)gGt>gTt	p.G740V	JAK2_ENST00000544510.1_Missense_Mutation_p.G591V|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.G740V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	740	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	TGGAGTTTTGGTACCACTTTG	0.353		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																												p.G740V				Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.			0			c.G2219T												159	181	173					9																	5080316		2203	4300	6503	SO:0001583	missense	3717	exon17	Familial Cancer Database		GTTTTGGTACCAC		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.2219G>T	9.37:g.5080316G>T	ENSP00000371067:p.Gly740Val		145	0	0		151	0.21	32	NM_004972	8	0.5	4	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687926	0.88639	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.80653	-1.4;-1.4;-1.4	6.06	6.06	0.98353	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	0.95127	0.8421	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96575	0.9426	10	0.87932	D	0	-16.7004	20.6397	0.99537	0.0:0.0:1.0:0.0	.	740	O60674	JAK2_HUMAN	V	740;740;591	ENSP00000440387:G740V;ENSP00000371067:G740V;ENSP00000443103:G591V	ENSP00000371067:G740V	G	+	2	0	JAK2	5070316	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.459000	0.97638	2.880000	0.98712	0.650000	0.86243	GGT			0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051609.1				T	5080316	G	T	5080316	3	4	89	1	0	0	0	0	1	0	0	0	7953	1261	44	3	2277	3	JAK2	9	5080316	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		5080316	136133115	33	6235											
GAS1	2619	mdanderson.org	37	chr9	89560990	89560990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggccatgttctccttGaccgactcgcagatgggccg	6	8	14	13	4	1	2	0	1	1	1	3	3	1	2	4	3	0	2	4	3	0	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr9:89560990G>T	ENST00000298743.7	-	1	1114	c.705C>A	c.(703-705)gtC>gtA	p.V235V	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	235					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						TGTTCTCCTTGACCGACTCGC	0.672																																					p.V235V													.	.			0			c.C705A												20	21	21					9																	89560990		2200	4295	6495	SO:0001819	synonymous_variant	2619	exon1			CTCCTTGACCGAC		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.705C>A	9.37:g.89560990G>T			17	0	0		17	0.18	3	NM_002048	13	0	0	B9EGM4|Q6B086	Silent	SNP	ENST00000298743.7	37	CCDS6674.1																																																																																					0.672	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052928.1		NM_002048		T	89560990	G	T	89560990	2	4	89	1	0	0	0	0	0	0	0	1	6258	1277	45	3		3	GAS1	9	89560990	Silent	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	84480674	89560990	51652441	34	6236											
C5	727	hgsc.bcm.edu;mdanderson.org	37	chr9	123751989	123751989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcctctgcactccctttgGggaggtgggttaggatattg	5	12	14	10	1	1	0	0	0	1	0	2	2	2	2	3	5	1	2	3	5	2	4			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr9:123751989G>T	ENST00000223642.1	-	24	3040	c.3011C>A	c.(3010-3012)cCc>cAc	p.P1004H		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1004					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)	ACTCCCTTTGGGGAGGTGGGT	0.433																																					p.P1004H													.	.			0			c.C3011A												74	71	72					9																	123751989		2203	4300	6503	SO:0001583	missense	727	exon24			CCTTTGGGGAGGT	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.3011C>A	9.37:g.123751989G>T	ENSP00000223642:p.Pro1004His		53	0	0		79	0.05	4	NM_001735	4	0	0	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515107	0.85389	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.71817	-0.6	6.06	6.06	0.98353	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	M	0.82630	2.6	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	D	0.86734	0.1950	10	0.87932	D	0	.	17.3401	0.87293	0.0:0.0:1.0:0.0	.	1004	P01031	CO5_HUMAN	H	1004;1075	ENSP00000223642:P1004H	ENSP00000223642:P1004H	P	-	2	0	C5	122791810	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.802000	0.75175	2.882000	0.98803	0.655000	0.94253	CCC			0.433	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053844.1		NM_001735		T	123751989	G	T	123751989	3	4	89	1	0	0	0	0	1	0	0	0	2282	1232	43	3	2091	3	C5	9	123751989	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	34190999	123751989	17461442	35	6237											
DNAJC12	56521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	69571358	69571358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcgccagtggtcatagCgggctcgactctcttcattg	5	13	10	13	3	3	0	2	0	1	0	7	1	4	0	2	2	1	1	2	2	1	4			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr10:69571358C>T	ENST00000225171.2	-	3	373	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RNU6-1250P_ENST00000391218.1_RNA|DNAJC12_ENST00000339758.7_Missense_Mutation_p.R74H|DNAJC12_ENST00000483798.2_Missense_Mutation_p.R104H	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	74	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.									breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						GTGGTCATAGCGGGCTCGACT	0.507																																					p.R74H													.	.			0			c.G221A												151	127	135					10																	69571358		2203	4300	6503	SO:0001583	missense	56521	exon3			TCATAGCGGGCTC	AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"Heat shock proteins / DNAJ (HSP40)"	28908	protein-coding gene	gene with protein product	"J domain protein 1"	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.221G>A	10.37:g.69571358C>T	ENSP00000225171:p.Arg74His		140	0	0		173	0.11	19	NM_021800	5	0	0	Q5JVQ1|Q9UKB2	Missense_Mutation	SNP	ENST00000225171.2	37	CCDS7271.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366838	0.41902	.	.	ENSG00000108176	ENST00000225171;ENST00000339758	T;T	0.29655	1.56;1.56	5.72	2.85	0.33270	Heat shock protein DnaJ, N-terminal (4);	0.150747	0.64402	D	0.000012	T	0.18002	0.0432	N	0.25485	0.75	0.39274	D	0.96444	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.07927	-1.0747	10	0.33940	T	0.23	-10.4551	5.5424	0.17045	0.1394:0.6409:0.0:0.2197	.	74;74	Q9UKB3-2;Q9UKB3	.;DJC12_HUMAN	H	74	ENSP00000225171:R74H;ENSP00000343575:R74H	ENSP00000225171:R74H	R	-	2	0	DNAJC12	69241364	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.348000	0.44045	0.335000	0.23614	-0.254000	0.11334	CGC			0.507	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048291.1		NM_021800		T	69571358	C	T	69571358	3	4	89	1	0	0	0	0	1	0	0	0	4636	768	27	1	414	1	DNAJC12	10	69571358	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10		69571358	65963389	36	6238											
VENTX	27287	mdanderson.org	37	chr10	135051634	135051634	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgggtcctcaaatctGcctgcgccggagaggaccat	7	6	13	15	4	2	1	1	0	1	1	3	3	3	2	6	3	2	0	6	3	1	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr10:135051634G>T	ENST00000325980.9	+	1	727	c.216G>T	c.(214-216)ctG>ctT	p.L72L		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	72					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCTCAAATCTGCCTGCGCCGG	0.721																																					p.L72L													.	.			0			c.G216T												6	9	8					10																	135051634		1877	3870	5747	SO:0001819	synonymous_variant	27287	exon1			AAATCTGCCTGCG	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.216G>T	10.37:g.135051634G>T			50	0	0		44	0.07	3	NM_014468	439	0	2	Q32MZ3	Silent	SNP	ENST00000325980.9	37	CCDS7675.1																																																																																					0.721	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051116.4		NM_014468		T	135051634	G	T	135051634	2	4	89	1	0	0	0	0	0	0	0	1	17177	1306	46	2		2	VENTX	10	135051634	Silent	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	65480276	135051634	483113	37	6239											
CHID1	66005	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	903029	903029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgccgagcagtagctgCgatgctcaagaaccacactc	10	8	9	14	2	1	1	1	0	0	1	2	3	1	1	3	0	6	4	3	0	3	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr11:903029C>T	ENST00000449825.1	-	3	550	c.194G>A	c.(193-195)cGc>cAc	p.R65H	CHID1_ENST00000436108.2_Missense_Mutation_p.R65H|CHID1_ENST00000429789.2_Missense_Mutation_p.R65H|CHID1_ENST00000528581.1_Missense_Mutation_p.R90H|CHID1_ENST00000323541.7_Missense_Mutation_p.R95H|CHID1_ENST00000336845.5_Missense_Mutation_p.R90H|CHID1_ENST00000323578.8_Missense_Mutation_p.R65H|CHID1_ENST00000454838.2_Missense_Mutation_p.R90H|CHID1_ENST00000526714.1_5'UTR	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	65					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)		GCAGTAGCTGCGATGCTCAAG	0.542																																					p.R90H	Pancreas(117;992 2327 5172 41921)												.	CHID1	29		0			c.G269A												106	93	98					11																	903029		2203	4299	6502	SO:0001583	missense	66005	exon4			TAGCTGCGATGCT	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.194G>A	11.37:g.903029C>T	ENSP00000391255:p.Arg65His		40	0	0		52	0.1	5	NM_001142676	227	0	0	B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444087	0.43429	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859;ENST00000533056;ENST00000533059;ENST00000530939;ENST00000525225	T;T;T;T;T;T;T;T	0.32515	1.45;1.48;1.89;1.48;1.46;1.89;1.89;1.48	4.79	3.86	0.44501	.	0.048815	0.85682	D	0.000000	T	0.46756	0.1409	M	0.68952	2.095	0.41534	D	0.988476	P;P;D;P;P	0.89917	0.762;0.762;1.0;0.846;0.528	B;B;P;B;B	0.62184	0.061;0.061;0.899;0.129;0.036	T	0.43782	-0.9370	10	0.51188	T	0.08	-36.0922	10.2696	0.43475	0.0:0.8445:0.0:0.1555	.	126;95;65;90;65	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	H	95;65;90;65;65;90;90;65;65;65;65;65;65	ENSP00000324821:R95H;ENSP00000391255:R65H;ENSP00000398722:R90H;ENSP00000325055:R65H;ENSP00000416034:R65H;ENSP00000435503:R90H;ENSP00000338838:R90H;ENSP00000388156:R65H	ENSP00000324821:R95H	R	-	2	0	CHID1	893029	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	1.272000	0.33109	2.393000	0.81446	0.462000	0.41574	CGC			0.542	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257112.1		NM_023947		T	903029	C	T	903029	3	4	89	1	0	0	0	0	1	0	0	0	3347	768	27	1	1031	1	CHID1	11	903029	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10		903029	134103487	38	6240											
NAT10	55226	broad.mit.edu	37	chr11	34149080	34149080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgatgaagctgccgccaTccccctccccttggtgaaga	8	9	10	14	1	0	4	0	3	0	1	2	5	2	4	6	1	2	1	6	1	2	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	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																																					p.I393T													.	NAT10	78		0			c.T1178C												177	161	167					11																	34149080		2202	4298	6500	SO:0001583	missense	55226	exon12			CCGCCATCCCCCT	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		135	0.0222222222	3		174	0.02	3	NM_024662	92	0	0	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	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		C	34149080	T	C	34149080	3	2	89	1	0	0	0	0	1	0	0	0	10190	1435	50	4	1220	4	NAT10	11	34149080	Missense_Mutation	SNP	T	TCGA-SB-A6J6-01A-11D-A435-10	33246051	34149080	100857436	39	6241											
RAPSN	5913	mdanderson.org	37	chr11	47469559	47469559	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgccctggtaccaggCagcccaaggcaggtcttgca	8	6	12	15	0	1	0	0	0	1	0	1	0	1	0	4	4	4	5	4	4	2	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr11:47469559C>T	ENST00000298854.2	-	2	549	c.336G>A	c.(334-336)ctG>ctA	p.L112L	RAPSN_ENST00000529341.1_Silent_p.L112L|RAPSN_ENST00000352508.3_Silent_p.L112L|RAPSN_ENST00000524487.1_Silent_p.L112L	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	112				L -> V (in Ref. 1; CAA83954). {ECO:0000305}.	positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						TGGTACCAGGCAGCCCAAGGC	0.617																																					p.L112L													.	.			0			c.G336A												76	58	64					11																	47469559		2201	4298	6499	SO:0001819	synonymous_variant	5913	exon2			ACCAGGCAGCCCA		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"RING-type (C3HC4) zinc fingers"	9863	protein-coding gene	gene with protein product	"rapsyn"	601592	"receptor-associated protein of the synapse, 43kD"			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.336G>A	11.37:g.47469559C>T			43	0	0		55	0.05	3	NM_005055	0		0	Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	CCDS7936.1																																																																																					0.617	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391726.1				T	47469559	C	T	47469559	2	4	89	1	0	0	0	0	0	0	0	1	13074	697	25	2		2	RAPSN	11	47469559	Silent	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	13320479	47469559	87536957	40	6242											
SLC22A24	283238	hgsc.bcm.edu	37	chr11	62848443	62848443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagatccctggtttctGgaaggaggaggataacaggg	11	8	17	5	0	1	1	0	0	1	1	2	6	2	5	1	7	1	2	1	7	3	3			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr11:62848443G>T	ENST00000417740.1	-	9	1988	c.1547C>A	c.(1546-1548)cCa>cAa	p.P516Q		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	274					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CCTGGTTTCTGGAAGGAGGAG	0.507																																					p.P516Q													SLC22A24_ENST00000417740,NS,carcinoma,-2,1	SLC22A24_ENST00000417740	-2	1	0			c.C1547A												153	131	137					11																	62848443		692	1591	2283	SO:0001583	missense	283238	exon9			GTTTCTGGAAGGA		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.1547C>A	11.37:g.62848443G>T	ENSP00000396586:p.Pro516Gln		90	0	0		78	0.05	4	NM_001136506	0		0		Missense_Mutation	SNP	ENST00000417740.1	37		.	.	.	.	.	.	.	.	.	.	G	15.21	2.766040	0.49574	.	.	ENSG00000197658	ENST00000417740	T	0.79940	-1.32	3.49	3.49	0.39957	.	.	.	.	.	D	0.93164	0.7823	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95091	0.8222	9	0.87932	D	0	.	13.0383	0.58885	0.0:0.0:1.0:0.0	.	516	C9JC66	.	Q	516	ENSP00000396586:P516Q	ENSP00000396586:P516Q	P	-	2	0	SLC22A24	62605019	1.000000	0.71417	0.996000	0.52242	0.468000	0.32798	4.402000	0.59722	1.970000	0.57323	0.590000	0.80494	CCA			0.507	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding		OTTHUMT00000383747.1		NM_173586		T	62848443	G	T	62848443	3	4	89	1	0	0	0	0	1	0	0	0	14476	1348	47	3	114	3	SLC22A24	11	62848443	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	15378884	62848443	72158073	41	6243											
TBX10	347853	mdanderson.org	37	chr11	67399845	67399845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgaggctgctgtgactcCgggctgggacactgagcagg	7	7	17	10	1	0	3	0	3	0	0	1	5	1	4	1	4	2	4	1	4	0	0	rs146079895		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr11:67399845C>T	ENST00000335385.3	-	7	899	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	NUDT8_ENST00000301490.4_5'Flank|NUDT8_ENST00000376693.2_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	271					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						GCTGTGACTCCGGGCTGGGAC	0.617													C|||	1	0.000199681	0	0	5008	,	,		18653	0		0.001	False		,,,				2504	0				p.R271Q													.	.			0			c.G812A							C	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	69	64	66		812	2	0.3	11	dbSNP_134	66	0,8588		0,0,4294	no	missense	TBX10	NM_005995.4	43	0,2,6492	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging	271/386	67399845	2,12986	2200	4294	6494	SO:0001583	missense	347853	exon7			TGACTCCGGGCTG	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"T-boxes"	11593	protein-coding gene	gene with protein product		604648	"T-box 7"	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.812G>A	11.37:g.67399845C>T	ENSP00000335191:p.Arg271Gln		35	0	0		38	0.08	3	NM_005995	2	0	0	Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161587	0.21538	4.55E-4	0.0	ENSG00000167800	ENST00000335385	D	0.86366	-2.11	4.96	1.99	0.26369	.	1.705140	0.03236	N	0.179662	T	0.79862	0.4519	L	0.27053	0.805	0.19300	N	0.999976	B	0.25772	0.134	B	0.15052	0.012	T	0.64296	-0.6441	10	0.39692	T	0.17	.	7.038	0.25004	0.0:0.5749:0.3338:0.0913	.	271	O75333	TBX10_HUMAN	Q	271	ENSP00000335191:R271Q	ENSP00000335191:R271Q	R	-	2	0	TBX10	67156421	0.000000	0.05858	0.335000	0.25508	0.070000	0.16714	-1.927000	0.01561	0.266000	0.21894	-1.087000	0.02190	CGG	0		0.617	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394034.1		NM_005995		T	67399845	C	T	67399845	3	4	89	1	0	0	0	0	1	0	0	0	15674	652	23	1	353	1	TBX10	11	67399845	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	4551402	67399845	67606671	42	6244											
MLL2	8085	broad.mit.edu	37	chr12	49435162	49435162	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagacaagccggcgggggTagtggggctgccaatgaaaa	11	5	18	7	2	0	2	0	1	0	1	0	2	0	2	2	6	2	3	2	6	6	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr12:49435162T>G	ENST00000301067.7	-	31	6390	c.6391A>C	c.(6391-6393)Acc>Ccc	p.T2131P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2131	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCGGCGGGGGTAGTGGGGCTG	0.701																																					p.T2131P													.	MLL2	1173		0			c.A6391C												8	11	10					12																	49435162		1778	3980	5758	SO:0001583	missense	8085	exon31			CGGGGGTAGTGGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6391A>C	12.37:g.49435162T>G	ENSP00000301067:p.Thr2131Pro		50	0.24	12		82	0.2	16	NM_003482	25	0.12	3	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	7.328	0.618351	0.14129	.	.	ENSG00000167548	ENST00000301067	T	0.79454	-1.27	3.83	-0.15	0.13416	.	0.528712	0.14289	N	0.329016	T	0.55625	0.1932	N	0.08118	0	0.26200	N	0.979458	B	0.02656	0.0	B	0.01281	0.0	T	0.49844	-0.8896	10	0.87932	D	0	.	8.1002	0.30852	0.0:0.0903:0.5785:0.3312	.	2131	O14686	MLL2_HUMAN	P	2131	ENSP00000301067:T2131P	ENSP00000301067:T2131P	T	-	1	0	MLL2	47721429	0.039000	0.19947	0.969000	0.41365	0.958000	0.62258	-0.079000	0.11357	-0.032000	0.13758	0.459000	0.35465	ACC			0.701	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390183.2				G	49435162	T	G	49435162	3	3	89	1	0	0	0	0	1	0	0	0	9637	1638	57	4	10318	4	MLL2	12	49435162	Missense_Mutation	SNP	T	TCGA-SB-A6J6-01A-11D-A435-10		49435162	84416733	43	6245											
KRT79	338785	mdanderson.org	37	chr12	53227722	53227722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatccccccaggaggacaaGcaggcccaaacgtctgcctg	10	4	12	15	1	1	0	0	0	1	0	2	3	2	3	5	4	3	1	5	4	2	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr12:53227722G>T	ENST00000330553.5	-	1	357	c.323C>A	c.(322-324)gCt>gAt	p.A108D		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	108	Head.					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						AGGAGGACAAGCAGGCCCAAA	0.652																																					p.A108D													.	.			0			c.C323A												50	52	51					12																	53227722		2203	4300	6503	SO:0001583	missense	338785	exon1			GGACAAGCAGGCC	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.323C>A	12.37:g.53227722G>T	ENSP00000328358:p.Ala108Asp		69	0	0		108	0.05	5	NM_175834	0		0	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083740	0.08533	.	.	ENSG00000185640	ENST00000330553	T	0.75704	-0.96	4.28	-1.24	0.09435	.	0.685537	0.12741	N	0.443024	T	0.62060	0.2397	L	0.35854	1.095	0.09310	N	1	B	0.26845	0.161	B	0.28553	0.091	T	0.54337	-0.8309	10	0.59425	D	0.04	.	9.1145	0.36748	0.665:0.0:0.335:0.0	.	108	Q5XKE5	K2C79_HUMAN	D	108	ENSP00000328358:A108D	ENSP00000328358:A108D	A	-	2	0	KRT79	51513989	0.001000	0.12720	0.029000	0.17559	0.114000	0.19823	0.051000	0.14141	-0.250000	0.09555	0.591000	0.81541	GCT			0.652	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406376.1		NM_175834		T	53227722	G	T	53227722	3	4	89	1	0	0	0	0	1	0	0	0	8507	971	34	2	1320	2	KRT79	12	53227722	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	3792560	53227722	80624173	44	6246											
CKAP4	10970	broad.mit.edu;mdanderson.org	37	chr12	106641269	106641269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgcaccagcccgagaaagCggccgccgccaccagggcga	10	0	14	17	6	0	1	0	0	0	1	0	4	0	1	6	2	2	1	6	2	1	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr12:106641269C>T	ENST00000378026.4	-	1	497	c.361G>A	c.(361-363)Gct>Act	p.A121T	CKAP4_ENST00000552828.1_Intron|RP11-651L5.2_ENST00000552486.1_RNA	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	121	Poly-Ala.					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						CCCGAGAAAGCGGCCGCCGCC	0.731																																					p.A121T													.	CKAP4	49		0			c.G361A												4	6	5					12																	106641269		2007	4023	6030	SO:0001583	missense	10970	exon1			AGAAAGCGGCCGC	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.361G>A	12.37:g.106641269C>T	ENSP00000367265:p.Ala121Thr		13	0	0		22	0.18	4	NM_006825	111	0.01	1	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042267	0.55003	.	.	ENSG00000136026	ENST00000378026	T	0.34072	1.38	3.34	2.44	0.29823	.	0.486738	0.19471	N	0.113458	T	0.31734	0.0806	M	0.63843	1.955	0.38705	D	0.953071	P	0.47106	0.89	B	0.38683	0.279	T	0.26780	-1.0093	10	0.66056	D	0.02	-12.3479	8.3512	0.32303	0.0:0.8841:0.0:0.1159	.	121	Q07065	CKAP4_HUMAN	T	121	ENSP00000367265:A121T	ENSP00000367265:A121T	A	-	1	0	CKAP4	105165399	1.000000	0.71417	0.981000	0.43875	0.499000	0.33736	3.174000	0.50847	0.593000	0.29745	0.393000	0.25936	GCT			0.731	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407196.1				T	106641269	C	T	106641269	3	4	89	1	0	0	0	0	1	0	0	0	3446	768	27	1	1455	1	CKAP4	12	106641269	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	53413547	106641269	27210626	45	6247											
C12orf51	283450	mdanderson.org	37	chr12	112664471	112664471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actacattcctgggctactaGgttaagaacttcaacagctg	12	11	8	10	0	1	1	1	0	0	1	2	1	2	1	1	2	5	3	1	2	6	6			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr12:112664471G>T	ENST00000430131.2	-	43	6825	c.5680C>A	c.(5680-5682)Cta>Ata	p.L1894I	HECTD4_ENST00000377560.5_Missense_Mutation_p.L2144I|HECTD4_ENST00000550722.1_Missense_Mutation_p.L2170I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1894					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)										TGGGCTACTAGGTTAAGAACT	0.403																																					p.L2182I													.	.			0			c.C6544A												90	87	88					12																	112664471		1896	4132	6028	SO:0001583	missense	283450	exon44			CTACTAGGTTAAG	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.5680C>A	12.37:g.112664471G>T	ENSP00000404379:p.Leu1894Ile		26	0	0		46	0.07	3	NM_001109662	33	0	0	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	13.20	2.167425	0.38315	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.46063	0.88;0.88;0.88	5.24	5.24	0.73138	.	.	.	.	.	T	0.38348	0.1037	N	0.08118	0	0.42816	D	0.993979	P	0.52842	0.956	P	0.62184	0.899	T	0.26643	-1.0097	9	0.28530	T	0.3	.	11.2587	0.49069	0.093:0.0:0.907:0.0	.	1894	Q9Y4D8	K0614_HUMAN	I	2144;1894;2170	ENSP00000366783:L2144I;ENSP00000404379:L1894I;ENSP00000449784:L2170I	ENSP00000366783:L2144I	L	-	1	2	C12orf51	111148854	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	5.389000	0.66255	2.444000	0.82710	0.467000	0.42956	CTA			0.403	HECTD4-202	KNOWN	basic	protein_coding	protein_coding				NM_173813		T	112664471	G	T	112664471	3	4	89	1	0	0	0	0	1	0	0	0	1698	991	35	3	6442	3	C12orf51	12	112664471	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	6023202	112664471	21187424	46	6248											
SPERT	220082	broad.mit.edu;mdanderson.org	37	chr13	46288213	46288213	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcccgggcctgcccgaCggctgccagcccctgcagct	3	5	15	18	3	0	0	0	0	0	0	0	1	0	0	6	3	5	3	6	3	0	0	rs528252989	byFrequency	TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr13:46288213C>T	ENST00000310521.1	+	3	1133	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	SPERT_ENST00000378966.3_Silent_p.D315D	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	351						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GCCTGCCCGACGGCTGCCAGC	0.692													c|||	3	0.000599042	8e-04	0	5008	,	,		15670	0		0.002	False		,,,				2504	0				p.D351D													.	SPERT	54		0			c.C1053T												5	6	5					13																	46288213		2122	4160	6282	SO:0001819	synonymous_variant	220082	exon3			GCCCGACGGCTGC	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.1053C>T	13.37:g.46288213C>T			33	0	0		25	0.12	3	NM_152719	0		0	A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	CCDS9399.1																																																																																					0.692	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044786.2		NM_152719		T	46288213	C	T	46288213	2	4	89	1	0	0	0	0	0	0	0	1	15062	535	19	1		1	SPERT	13	46288213	Silent	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10		46288213	68881665	47	6249											
ERCC5	2073	mdanderson.org	37	chr13	103528227	103528227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaggaaactaagacgtGcgaggggaagaaaaaggaaa	22	2	14	3	2	0	3	0	0	0	3	0	7	0	6	0	4	2	0	0	4	8	1	rs55843971		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr13:103528227G>T	ENST00000355739.4	+	15	4958	c.3535G>T	c.(3535-3537)Gcg>Tcg	p.A1179S	ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Missense_Mutation_p.A412S	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	1179					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACTAAGACGTGCGAGGGGAAG	0.393			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.A1633S			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	ERCC5,NS,carcinoma,-2,1	ERCC5	-2	1	0			c.G4897T												36	39	38					13																	103528227		2200	4297	6497	SO:0001583	missense	0	exon23	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AGACGTGCGAGGG	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.3535G>T	13.37:g.103528227G>T	ENSP00000347978:p.Ala1179Ser		20	0	0		21	0.1	2	NM_001204425	64	0	0	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	8.070	0.769973	0.15983	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.06849	3.55;3.25	5.35	-1.08	0.09936	.	2.065180	0.01750	N	0.029850	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.36890	-0.9729	10	0.09590	T	0.72	2.7802	7.3592	0.26737	0.5887:0.1212:0.29:0.0	rs55843971	1179	P28715	ERCC5_HUMAN	S	1604;1179;1011;412	ENSP00000347978:A1179S;ENSP00000365121:A412S	ENSP00000347978:A1179S	A	+	1	0	ERCC5	102326228	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.915000	0.04033	-0.440000	0.07211	0.650000	0.86243	GCG			0.393	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045708.1				T	103528227	G	T	103528227	3	4	89	1	0	0	0	0	1	0	0	0	5223	1319	46	2	3593	2	ERCC5	13	103528227	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	57240014	103528227	11641651	48	6250											
NYNRIN	57523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	24878059	24878059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaaggcctggaccccgggGccagcctttgggccattgtg	5	8	16	12	1	0	0	0	0	0	0	0	2	0	2	6	6	1	0	6	6	1	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr14:24878059G>A	ENST00000382554.3	+	4	1377	c.1059G>A	c.(1057-1059)ggG>ggA	p.G353G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	353					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						GGACCCCGGGGCCAGCCTTTG	0.582																																					p.G353G													.	.			0			c.G1059A												30	31	31					14																	24878059		1883	4106	5989	SO:0001819	synonymous_variant	57523	exon4			CCCGGGGCCAGCC	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.1059G>A	14.37:g.24878059G>A			104	0	0		130	0.18	23	NM_025081	15	0.33	5	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																					0.582	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412939.1				A	24878059	G	A	24878059	2	1	89	1	0	0	0	0	0	0	0	1	10813	1190	42	2		2	NYNRIN	14	24878059	Silent	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		24878059	82471481	49	6251											
FOXA1	3169	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	38060906	38060906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgccccgggcccggaGcttatggggggcgcagttga	5	5	18	13	4	0	1	0	1	0	0	0	2	0	2	4	5	2	3	4	5	1	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr14:38060906G>T	ENST00000250448.2	-	2	1144	c.1083C>A	c.(1081-1083)agC>agA	p.S361R	FOXA1_ENST00000540786.1_Missense_Mutation_p.S328R|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	361					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGGGCCCGGAGCTTATGGGGG	0.711																																					p.S361R													.	.			0			c.C1083A												8	9	8					14																	38060906		2179	4267	6446	SO:0001583	missense	3169	exon2			CCCGGAGCTTATG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1083C>A	14.37:g.38060906G>T	ENSP00000250448:p.Ser361Arg		24	0	0		53	0.19	10	NM_004496	0		0	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	6.000	0.368398	0.11352	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.91843	-2.92;-2.92	4.08	3.18	0.36537	.	0.685470	0.14392	N	0.322460	T	0.80773	0.4687	N	0.19112	0.55	0.41182	D	0.986245	B	0.34015	0.435	B	0.29524	0.103	T	0.71965	-0.4433	10	0.15499	T	0.54	.	4.148	0.10225	0.2142:0.1955:0.5903:0.0	.	361	P55317	FOXA1_HUMAN	R	361;328	ENSP00000250448:S361R;ENSP00000440178:S328R	ENSP00000250448:S361R	S	-	3	2	FOXA1	37130657	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	2.354000	0.44098	0.923000	0.37045	0.400000	0.26472	AGC			0.711	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276735.1				T	38060906	G	T	38060906	3	4	89	1	0	0	0	0	1	0	0	0	6002	962	34	2	339	2	FOXA1	14	38060906	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	13182847	38060906	69288634	50	6252											
SEL1L	6400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	81969081	81969081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacagtctgtcccttgggaGagccttcctcagtcagcttc	6	13	9	13	0	3	1	2	0	1	1	6	2	5	1	3	1	3	1	3	1	1	4			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr14:81969081G>C	ENST00000336735.4	-	6	877	c.761C>G	c.(760-762)tCt>tGt	p.S254C	SEL1L_ENST00000555824.1_Missense_Mutation_p.S254C	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	254	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TCCCTTGGGAGAGCCTTCCTC	0.433																																					p.S254C													.	.			0			c.C761G												252	238	243					14																	81969081		2203	4300	6503	SO:0001583	missense	6400	exon6			TTGGGAGAGCCTT		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.761C>G	14.37:g.81969081G>C	ENSP00000337053:p.Ser254Cys		48	0	0		102	0.12	12	NM_001244984	25	0.08	2	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499202	0.85069	.	.	ENSG00000071537	ENST00000336735;ENST00000555824	T;T	0.53423	0.62;0.65	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.922;0.996	T	0.66850	-0.5819	10	0.40728	T	0.16	.	19.6558	0.95837	0.0:0.0:1.0:0.0	.	254;254	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	C	254	ENSP00000337053:S254C;ENSP00000450709:S254C	ENSP00000337053:S254C	S	-	2	0	SEL1L	81038834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.105000	0.94246	2.719000	0.93026	0.655000	0.94253	TCT			0.433	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413325.1		NM_005065		C	81969081	G	C	81969081	3	2	89	1	0	0	0	0	1	0	0	0	14033	942	33	5	1687	5	SEL1L	14	81969081	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	43908175	81969081	25380459	51	6253											
MEF2A	4205	hgsc.bcm.edu	37	chr15	100211846	100211846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttgataatatgatgcGgaatcataaaatcgcagtga	16	11	10	4	2	1	3	1	3	0	0	2	5	1	5	0	2	1	1	0	2	6	4	rs75705863		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr15:100211846G>A	ENST00000354410.5	+	5	1009	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557942.1_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	127					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|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)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AATATGATGCGGAATCATAAA	0.353																																					p.R127Q													MEF2A_ENST00000354410,NS,carcinoma,+1,1	MEF2A_ENST00000354410	1	1	0			c.G380A												23	21	22					15																	100211846		1829	4075	5904	SO:0001583	missense	4205	exon5			TGATGCGGAATCA		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.380G>A	15.37:g.100211846G>A	ENSP00000346389:p.Arg127Gln		20	0	0		40	0.1	4	NM_005587	5	0	0	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000354410.5	37	CCDS45362.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210988	0.39102	.	.	ENSG00000068305	ENST00000354410	T	0.53640	0.61	5.42	5.42	0.78866	Holliday junction regulator protein family C-terminal repeat (1);	0.388740	0.29028	N	0.013366	T	0.33731	0.0873	N	0.10916	0.065	0.80722	D	1	B;B	0.29301	0.241;0.203	B;B	0.37422	0.249;0.135	T	0.11916	-1.0568	10	0.05833	T	0.94	-16.9184	19.5673	0.95398	0.0:0.0:1.0:0.0	.	127;127	Q02078;Q02078-5	MEF2A_HUMAN;.	Q	127	ENSP00000346389:R127Q	ENSP00000346389:R127Q	R	+	2	0	MEF2A	98029369	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.706000	0.92434	0.462000	0.41574	CGG			0.353	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000415980.1				A	100211846	G	A	100211846	3	1	89	1	0	0	0	0	1	0	0	0	9471	1116	39	1	526	1	MEF2A	15	100211846	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		100211846	2319546	52	6254											
NPW	283869	mdanderson.org	37	chr16	2070149	2070149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaccctctcccccgaacccGcagcccgcgaggctcctctc	6	5	7	23	4	2	0	0	0	2	0	5	2	3	0	6	1	2	2	6	1	1	0	rs543718628	byFrequency	TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr16:2070149G>A	ENST00000566435.1	+	1	604	c.91G>A	c.(91-93)Gca>Aca	p.A31T	NPW_ENST00000329610.4_Missense_Mutation_p.A83T			Q8N729	NPW_HUMAN	neuropeptide W	83					feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				kidney(1)	1						CCCCGAACCCGCAGCCCGCGA	0.751													G|||	6	0.00119808	0	0	5008	,	,		9969	0		0	False		,,,				2504	0.0061				p.A83T													.	.			0			c.G247A												8	8	8					16																	2070149		1405	3339	4744	SO:0001583	missense	283869	exon1			GAACCCGCAGCCC	AB084276	CCDS42102.1	16p13.3	2013-02-26			ENSG00000183971	ENSG00000183971		"Endogenous ligands"	30509	protein-coding gene	gene with protein product	"prepro-neuropeptide W"	607997				12118011, 12401809	Standard	NM_001099456		Approved	PPL8	uc002coh.4	Q8N729	OTTHUMG00000176914	ENST00000566435.1:c.91G>A	16.37:g.2070149G>A	ENSP00000456974:p.Ala31Thr		9	0	0		16	0.13	2	NM_001099456	3	0	0		Missense_Mutation	SNP	ENST00000566435.1	37		.	.	.	.	.	.	.	.	.	.	g	13.18	2.161555	0.38119	.	.	ENSG00000183971	ENST00000329610	T	0.47528	0.84	3.08	-1.23	0.09465	.	2.314070	0.02074	N	0.051782	T	0.27098	0.0664	N	0.19112	0.55	0.09310	N	1	P	0.36874	0.572	B	0.27608	0.081	T	0.16600	-1.0397	10	0.51188	T	0.08	.	2.6594	0.05021	0.2723:0.0:0.3913:0.3364	.	83	Q8N729	NPW_HUMAN	T	83	ENSP00000330070:A83T	ENSP00000330070:A83T	A	+	1	0	NPW	2010150	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.079000	0.14782	-0.148000	0.11234	0.400000	0.26472	GCA			0.751	NPW-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000434312.1		NM_001099456		A	2070149	G	A	2070149	3	1	89	1	0	0	0	0	1	0	0	0	10623	1087	38	1	249	1	NPW	16	2070149	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		2070149	88284604	53	6255											
PKD1	5310	mdanderson.org	37	chr16	2160443	2160443	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaatagcgcacatcactGccggcctccagcgacgtgct	9	6	11	15	4	1	0	1	0	0	0	2	2	2	1	3	2	4	2	3	2	2	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr16:2160443G>T	ENST00000262304.4	-	15	4933	c.4725C>A	c.(4723-4725)ggC>ggA	p.G1575G	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.G1575G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1575	PKD 11. {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						GCACATCACTGCCGGCCTCCA	0.642																																					p.G1575G													.	.			0			c.C4725A												47	45	46					16																	2160443		2191	4293	6484	SO:0001819	synonymous_variant	5310	exon15			ATCACTGCCGGCC	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.4725C>A	16.37:g.2160443G>T			51	0	0		51	0.06	3	NM_001009944	25	0	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																					0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341688.1				T	2160443	G	T	2160443	2	4	89	1	0	0	0	0	0	0	0	1	11980	1306	46	2		2	PKD1	16	2160443	Silent	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	90294	2160443	88194310	54	6256											
ZNF205	7755	mdanderson.org	37	chr16	3169513	3169513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccggagaagcccaacgaGgaggagaagggcgccccgga	11	1	17	12	4	0	2	0	0	0	2	1	7	1	4	4	5	2	0	4	5	3	0	rs369182482		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr16:3169513G>T	ENST00000382192.3	+	7	1057	c.852G>T	c.(850-852)gaG>gaT	p.E284D	ZNF205_ENST00000219091.4_Missense_Mutation_p.E284D|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	284					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|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)	p.E284E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGCCCAACGAGGAGGAGAAGG	0.706																																					p.E284D													ZNF205,NS,carcinoma,0,1	ZNF205	0	1	1	Substitution - coding silent(1)	lung(1)	c.G852T												18	24	22					16																	3169513		2191	4295	6486	SO:0001583	missense	7755	exon7			CAACGAGGAGGAG	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.852G>T	16.37:g.3169513G>T	ENSP00000371627:p.Glu284Asp		33	0	0		20	0.1	2	NM_001042428	54	0	0	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824963	0.50739	.	.	ENSG00000122386	ENST00000382192;ENST00000219091	T;T	0.08102	3.13;3.13	3.5	-0.871	0.10642	.	0.887861	0.09511	N	0.792293	T	0.12305	0.0299	L	0.57536	1.79	0.09310	N	1	D	0.61697	0.99	P	0.51701	0.677	T	0.18967	-1.0320	10	0.52906	T	0.07	-15.6101	2.7968	0.05403	0.3536:0.0:0.4437:0.2027	.	284	O95201	ZN205_HUMAN	D	284	ENSP00000371627:E284D;ENSP00000219091:E284D	ENSP00000219091:E284D	E	+	3	2	ZNF205	3109514	0.022000	0.18835	0.005000	0.12908	0.077000	0.17291	0.787000	0.26858	-0.112000	0.11979	0.462000	0.41574	GAG			0.706	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000309057.1		NM_003456		T	3169513	G	T	3169513	3	4	89	1	0	0	0	0	1	0	0	0	17787	991	35	3	874	3	ZNF205	16	3169513	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	1009070	3169513	87185240	55	6257											
ITPRIPL2	162073	mdanderson.org	37	chr16	19127279	19127279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgcggttgctgtccaCgtggcaaaggctgccccagc	7	6	14	14	3	0	0	0	0	0	0	1	0	1	0	3	3	5	5	3	3	1	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr16:19127279C>T	ENST00000381440.3	+	1	2026	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	499						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTGCTGTCCACGTGGCAAAGG	0.697																																					p.T499M													.	.			0			c.C1496T												45	51	49					16																	19127279		2197	4299	6496	SO:0001583	missense	162073	exon1			TGTCCACGTGGCA		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1496C>T	16.37:g.19127279C>T	ENSP00000370849:p.Thr499Met		31	0	0		46	0.07	3	NM_001034841	29	0	0		Missense_Mutation	SNP	ENST00000381440.3	37	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934440	0.52866	.	.	ENSG00000205730	ENST00000381440	T	0.14893	2.47	5.22	5.22	0.72569	.	0.129559	0.31989	U	0.006749	T	0.27663	0.0680	L	0.29908	0.895	0.41912	D	0.99047	D	0.89917	1.0	D	0.65987	0.94	T	0.02676	-1.1125	10	0.19590	T	0.45	-8.7154	16.9486	0.86237	0.0:1.0:0.0:0.0	.	499	Q3MIP1	IPIL2_HUMAN	M	499	ENSP00000370849:T499M	ENSP00000370849:T499M	T	+	2	0	ITPRIPL2	19034780	0.999000	0.42202	0.998000	0.56505	0.948000	0.59901	4.154000	0.58125	2.409000	0.81822	0.561000	0.74099	ACG			0.697	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435827.3		NM_001034841		T	19127279	C	T	19127279	3	4	89	1	0	0	0	0	1	0	0	0	7940	536	19	1	1498	1	ITPRIPL2	16	19127279	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	15957766	19127279	71227474	56	6258											
MYLPF	1731	broad.mit.edu	37	chr16	30389139	30389139	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaacatgtgggcggcctTcccccccgacgtgggcggca	7	5	14	15	4	0	1	0	0	0	1	1	2	1	1	4	4	1	1	4	4	2	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr16:30389139T>C	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.F143S			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)			TGGGCGGCCTTCCCCCCCGAC	0.672																																					p.F143S													.	MYLPF	12		0			c.T428C												50	50	50					16																	30389139		2197	4300	6497	SO:0001628	intergenic_variant	29895	exon7			CGGCCTTCCCCCC	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.30389139T>C			142	0	0		172	0.03	5	NM_013292	2	0	0	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37		.	.	.	.	.	.	.	.	.	.	T	18.24	3.580734	0.65992	.	.	ENSG00000180209	ENST00000322861	T	0.79141	-1.24	5.58	5.58	0.84498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83055	0.5171	L	0.43923	1.385	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	T	0.81400	-0.0950	10	0.31617	T	0.26	.	14.7247	0.69336	0.0:0.0:0.0:1.0	.	143	Q96A32	MLRS_HUMAN	S	143	ENSP00000325239:F143S	ENSP00000325239:F143S	F	+	2	0	MYLPF	30296640	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	5.626000	0.67777	2.110000	0.64415	0.482000	0.46254	TTC			0.672	SEPT1-201	KNOWN	basic	protein_coding	protein_coding				NM_052838		C	30389139	T	C	30389139	1	2	89	0	1	0	0	0	0	0	0	0	10076	1783	62	4		4	MYLPF	16	30389139	IGR	SNP	T	TCGA-SB-A6J6-01A-11D-A435-10	11261860	30389139	59965614	57	6259											
RNF40	9810	ucsc.edu	37	chr16	30778100	30778100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaagctacgcacagaGgtcattcagctggaggacac	14	5	12	10	1	2	3	2	0	0	3	2	5	2	5	0	3	3	3	0	3	3	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr16:30778100G>T	ENST00000324685.6	+	11	1767	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D	RNF40_ENST00000563683.1_Missense_Mutation_p.E404D|RNF40_ENST00000357890.5_Missense_Mutation_p.E344D|RNF40_ENST00000402121.3_Missense_Mutation_p.E136D	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	444					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TACGCACAGAGGTCATTCAGC	0.587																																					p.E444D													.	RNF40	83		0			c.G1332T												71	49	57					16																	30778100		2197	4300	6497	SO:0001583	missense	9810	exon11			CACAGAGGTCATT	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1332G>T	16.37:g.30778100G>T	ENSP00000325677:p.Glu444Asp		29	0	0		41	0.1	4	NM_014771	130	0	0	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114252	0.77210	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.32272	1.46;1.46;1.46	6.07	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	M	0.69185	2.1	0.58432	D	0.999994	P;D;D;D	0.76494	0.886;0.999;0.999;0.999	P;D;D;D	0.83275	0.647;0.995;0.996;0.996	T	0.43925	-0.9361	10	0.52906	T	0.07	-14.654	8.9702	0.35901	0.2991:0.0:0.7009:0.0	.	136;344;444;444	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	D	444;344;136	ENSP00000325677:E444D;ENSP00000350563:E344D;ENSP00000384942:E136D	ENSP00000325677:E444D	E	+	3	2	RNF40	30685601	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.326000	0.52037	0.880000	0.35969	-0.150000	0.13652	GAG			0.587	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255524.2		NM_014771		T	30778100	G	T	30778100	3	4	89	1	0	0	0	0	1	0	0	0	13516	991	35	3	1370	3	RNF40	16	30778100	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	388961	30778100	59576653	58	6260											
GFOD2	81577	mdanderson.org	37	chr16	67709571	67709571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtcatcgctagtgacgtgCcggatgccacggatggcagc	9	7	14	11	4	1	1	1	1	0	0	2	3	1	3	2	3	3	2	2	3	2	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr16:67709571C>T	ENST00000268797.7	-	3	990	c.645G>A	c.(643-645)cgG>cgA	p.R215R	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	215					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TAGTGACGTGCCGGATGCCAC	0.587																																					p.R215R													.	.			0			c.G645A												80	70	73					16																	67709571		2198	4300	6498	SO:0001819	synonymous_variant	81577	exon3			GACGTGCCGGATG	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.645G>A	16.37:g.67709571C>T			23	0	0		30	0.1	3	NM_030819	24	0	0	Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Silent	SNP	ENST00000268797.7	37	CCDS10845.1																																																																																					0.587	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268868.2		NM_030819		T	67709571	C	T	67709571	2	4	89	1	0	0	0	0	0	0	0	1	6358	726	26	2		2	GFOD2	16	67709571	Silent	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	36931471	67709571	22645182	59	6261											
PRMT7	54496	broad.mit.edu	37	chr16	68358698	68358698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactcttgtcaatgatggCggtcacagcaggtgccgact	8	9	14	10	2	3	1	2	1	1	0	3	3	3	2	1	4	2	1	1	4	1	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr16:68358698C>T	ENST00000339507.5	+	5	1075	c.245C>T	c.(244-246)gCg>gTg	p.A82V	PRMT7_ENST00000348497.4_Missense_Mutation_p.A82V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Intron|PRMT7_ENST00000449359.3_Intron			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	82	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.A82V(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TCAATGATGGCGGTCACAGCA	0.557																																					p.A82V													PRMT7,colon,carcinoma,0,1	PRMT7	51	1	1	Substitution - Missense(1)	large_intestine(1)	c.C245T												134	111	119					16																	68358698		2198	4300	6498	SO:0001583	missense	54496	exon5			TGATGGCGGTCAC	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.245C>T	16.37:g.68358698C>T	ENSP00000343103:p.Ala82Val		153	0	0		188	0.02	4	NM_019023	67	0.01	1	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869540	0.97049	.	.	ENSG00000132600	ENST00000348497;ENST00000339507	T;T	0.28666	1.6;1.6	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.91354	3.2	0.44745	D	0.997747	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.71830	-0.4474	10	0.56958	D	0.05	-22.6925	16.993	0.86359	0.0:1.0:0.0:0.0	.	82;82;82	Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;ANM7_HUMAN;.	V	82	ENSP00000345775:A82V;ENSP00000343103:A82V	ENSP00000343103:A82V	A	+	2	0	PRMT7	66916199	1.000000	0.71417	0.964000	0.40570	0.985000	0.73830	7.720000	0.84759	2.599000	0.87857	0.655000	0.94253	GCG			0.557	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268892.3		NM_019023		T	68358698	C	T	68358698	3	4	89	1	0	0	0	0	1	0	0	0	12561	768	27	1	255	1	PRMT7	16	68358698	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	649127	68358698	21996055	60	6262											
CAMKK1	84254	ucsc.edu	37	chr17	3788920	3788920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagtcacatcgatggctGccacccgttctaccagctct	8	10	9	14	2	3	1	1	1	2	0	4	2	3	1	3	1	3	3	3	1	1	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr17:3788920G>A	ENST00000348335.2	-	2	210	c.62C>T	c.(61-63)gCa>gTa	p.A21V	CAMKK1_ENST00000158166.5_Missense_Mutation_p.A21V|CAMKK1_ENST00000381771.2_Missense_Mutation_p.A21V|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A48V	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	21					synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ATCGATGGCTGCCACCCGTTC	0.612																																					p.A21V													.	CAMKK1	70		0			c.C62T												52	52	52					17																	3788920		2203	4300	6503	SO:0001583	missense	84254	exon2			ATGGCTGCCACCC	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.62C>T	17.37:g.3788920G>A	ENSP00000323118:p.Ala21Val		33	0	0		43	0.09	4	NM_032294	6	0	0	Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445369	0.83993	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.79141	-0.54;-0.5;-1.24;-1.19	4.84	4.84	0.62591	.	0.080407	0.50627	D	0.000114	D	0.83188	0.5200	L	0.43152	1.355	0.45205	D	0.998213	D;P	0.71674	0.998;0.941	D;P	0.80764	0.994;0.534	T	0.82226	-0.0562	10	0.39692	T	0.17	-11.8901	15.4825	0.75539	0.0:0.0:1.0:0.0	.	21;21	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	V	48;21;21;21	ENSP00000371188:A48V;ENSP00000323118:A21V;ENSP00000371190:A21V;ENSP00000158166:A21V	ENSP00000158166:A21V	A	-	2	0	CAMKK1	3735669	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.044000	0.76578	2.529000	0.85273	0.561000	0.74099	GCA			0.612	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207456.1		NM_032294, NM_172206, NM_172207		A	3788920	G	A	3788920	3	1	89	1	0	0	0	0	1	0	0	0	2608	1319	46	2	1637	2	CAMKK1	17	3788920	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		3788920	77406290	61	6263											
DLG4	1742	mdanderson.org	37	chr17	7100103	7100103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctggtcccccttccgcagCtccccactgaggtctgcagg	5	9	10	17	1	2	1	0	1	2	0	5	1	5	1	5	3	2	3	5	3	0	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr17:7100103C>T	ENST00000399506.2	-	9	1247	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	DLG4_ENST00000399510.2_Silent_p.E395E|DLG4_ENST00000302955.6_Silent_p.E349E			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	352	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CCTTCCGCAGCTCCCCACTGA	0.672																																					p.E395E													.	.			0			c.G1185A												14	18	17					17																	7100103		2034	4199	6233	SO:0001819	synonymous_variant	1742	exon11			CCGCAGCTCCCCA	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1056G>A	17.37:g.7100103C>T			41	0	0		38	0.08	3	NM_001365	16	0	0	B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37																																																																																						0.672	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000259419.2		NM_001365		T	7100103	C	T	7100103	2	4	89	1	0	0	0	0	0	0	0	1	4562	796	28	2		2	DLG4	17	7100103	Silent	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	3311183	7100103	74095107	62	6264											
SENP3	26168	broad.mit.edu;mdanderson.org	37	chr17	7466636	7466636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagaggaggaagaagaGgaggaggaggaggatgaaga	18	2	21	0	0	0	6	0	2	0	4	0	13	0	13	0	7	0	0	0	7	4	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr17:7466636G>A	ENST00000429205.2	+	2	292	c.243G>A	c.(241-243)gaG>gaA	p.E81E	SENP3_ENST00000578868.1_3'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000321337.7_Silent_p.E81E			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	81	Glu-rich.					cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				aggaagaagaggaggaggagg	0.622																																					p.E81E													.	SENP3	18		0			c.G243A																																									SO:0001819	synonymous_variant	26168	exon2			AGAAGAGGAGGAG	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.243G>A	17.37:g.7466636G>A			75	0	0		94	0.04	4	NM_015670	124	0	0	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Silent	SNP	ENST00000429205.2	37																																																																																						0.622	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015670		A	7466636	G	A	7466636	2	1	89	1	0	0	0	0	0	0	0	1	14071	991	35	3		3	SENP3	17	7466636	Silent	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	366533	7466636	73728574	63	6265											
RAB34	83871	hgsc.bcm.edu	37	chr17	27041699	27041699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttgctggcagttaGgtagaggttgctgtcatcac	6	15	11	9	0	4	1	2	0	2	1	4	1	4	1	0	3	2	6	0	3	2	6			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr17:27041699G>T	ENST00000395245.3	-	10	1368	c.742C>A	c.(742-744)Cta>Ata	p.L248I	RAB34_ENST00000395243.3_Missense_Mutation_p.L240I|RAB34_ENST00000450529.1_Missense_Mutation_p.L240I|PROCA1_ENST00000301039.2_5'Flank|PROCA1_ENST00000581289.1_5'Flank|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000447716.1_Missense_Mutation_p.L305I|RAB34_ENST00000395242.2_Missense_Mutation_p.L249I|RAB34_ENST00000301043.6_Missense_Mutation_p.L248I|RAB34_ENST00000415040.2_Missense_Mutation_p.L226I|RAB34_ENST00000436730.3_Missense_Mutation_p.L248I	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	248					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)	p.L248V(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTGGCAGTTAGGTAGAGGTTG	0.552																																					p.L305I	Pancreas(175;216 2049 29940 32498 41589)												RAB34,NS,carcinoma,0,1	RAB34	0	1	1	Substitution - Missense(1)	lung(1)	c.C913A												104	92	96					17																	27041699		2203	4300	6503	SO:0001583	missense	83871	exon11			CAGTTAGGTAGAG	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"RAB, member RAS oncogene"	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.742C>A	17.37:g.27041699G>T	ENSP00000378666:p.Leu248Ile		80	0	0		74	0.04	3	NM_001144943	137	0	0	B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319296	0.23994	.	.	ENSG00000109113	ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245	T;T;T;T;T;T	0.70516	-0.08;-0.04;-0.49;0.28;-0.04;-0.04	5.62	3.64	0.41730	.	0.510419	0.20530	N	0.090531	T	0.52565	0.1742	N	0.14661	0.345	0.23249	N	0.998049	B;B;B;B;B	0.11235	0.001;0.004;0.004;0.003;0.003	B;B;B;B;B	0.11329	0.001;0.006;0.004;0.003;0.001	T	0.55848	-0.8076	9	0.37606	T	0.19	-0.5301	11.1833	0.48642	0.1505:0.0:0.8495:0.0	.	226;240;263;249;248	E9PEJ9;Q9BZG1-2;B4DNC0;A8MYQ9;Q9BZG1	.;.;.;.;RAB34_HUMAN	I	305;248;240;226;263;249;248	ENSP00000410403:L305I;ENSP00000301043:L248I;ENSP00000378664:L240I;ENSP00000410279:L226I;ENSP00000378663:L249I;ENSP00000378666:L248I	ENSP00000301043:L248I	L	-	1	2	RAB34	24065826	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.338000	0.43957	0.738000	0.32606	-0.253000	0.11424	CTA			0.552	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000345906.1		NM_031934		T	27041699	G	T	27041699	3	4	89	1	0	0	0	0	1	0	0	0	12947	991	35	3	105	3	RAB34	17	27041699	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	19575063	27041699	54153511	64	6266											
GFAP	2670	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	42989136	42989136	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggagcagctccgcgttGcgggcagcagcgtctgtcag	5	7	17	12	5	2	0	1	0	1	0	3	1	3	1	1	3	5	5	1	3	0	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr17:42989136G>T	ENST00000253408.5	-	5	875	c.810C>A	c.(808-810)cgC>cgA	p.R270R	GFAP_ENST00000586793.1_Silent_p.R270R|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000435360.2_Silent_p.R270R	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	270	Coil 2B.|Rod.				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)				GCTCCGCGTTGCGGGCAGCAG	0.657																																					p.R270R													.	GFAP	88		0			c.C810A												46	46	46					17																	42989136		2203	4300	6503	SO:0001819	synonymous_variant	2670	exon5			CGCGTTGCGGGCA	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.810C>A	17.37:g.42989136G>T			33	0	0		41	0.1	4	NM_001131019	0		0	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	CCDS11491.1																																																																																					0.657	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448701.1		NM_002055		T	42989136	G	T	42989136	2	4	89	1	0	0	0	0	0	0	0	1	6351	1306	46	2		2	GFAP	17	42989136	Silent	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	15947437	42989136	38206074	65	6267											
COG1	9382	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	71193472	71193472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaaggactgctgccagatCcagccctgccatgtggcttg	8	8	12	13	0	0	2	0	0	0	2	1	3	1	3	4	2	4	2	4	2	1	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr17:71193472C>T	ENST00000299886.4	+	4	930	c.850C>T	c.(850-852)Cca>Tca	p.P284S	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	284					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GCTGCCAGATCCAGCCCTGCC	0.512																																					p.P284S													.	.			0			c.C850T												122	112	115					17																	71193472		2203	4300	6503	SO:0001583	missense	9382	exon4			CCAGATCCAGCCC		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.850C>T	17.37:g.71193472C>T	ENSP00000299886:p.Pro284Ser		55	0	0		66	0.33	22	NM_018714	80	0.63	50	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484872	0.26598	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.21932	1.98;1.99	5.5	5.5	0.81552	.	0.114968	0.64402	D	0.000009	T	0.21718	0.0523	L	0.47716	1.5	0.48185	D	0.999606	B;B;B	0.24533	0.105;0.105;0.105	B;B;B	0.25140	0.058;0.039;0.058	T	0.07712	-1.0758	10	0.09590	T	0.72	-13.9712	19.7422	0.96237	0.0:1.0:0.0:0.0	.	284;284;284	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	S	284	ENSP00000400111:P284S;ENSP00000299886:P284S	ENSP00000299886:P284S	P	+	1	0	COG1	68705067	0.990000	0.36364	0.620000	0.29132	0.369000	0.29798	3.511000	0.53400	2.743000	0.94032	0.655000	0.94253	CCA			0.512	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441638.1				T	71193472	C	T	71193472	3	4	89	1	0	0	0	0	1	0	0	0	3659	855	30	3	864	3	COG1	17	71193472	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	28204336	71193472	10001738	66	6268											
KIF19	124602	mdanderson.org	37	chr17	72350514	72350514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccacactacagcatgctgCcagtgaggacaacctgtcca	11	6	8	16	0	0	1	0	1	0	0	1	2	1	2	5	1	5	2	5	1	2	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr17:72350514C>T	ENST00000389916.4	+	18	2660	c.2522C>T	c.(2521-2523)gCc>gTc	p.A841V	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	841					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGCATGCTGCCAGTGAGGAC	0.697																																					p.A841V													.	.			0			c.C2522T												11	14	13					17																	72350514		1946	4116	6062	SO:0001583	missense	124602	exon18			ATGCTGCCAGTGA	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2522C>T	17.37:g.72350514C>T	ENSP00000374566:p.Ala841Val		27	0	0		35	0.09	3	NM_153209	3	0	0	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401224	0.25291	.	.	ENSG00000196169	ENST00000389916	T	0.71222	-0.55	5.06	1.43	0.22495	.	.	.	.	.	T	0.56587	0.1995	L	0.47716	1.5	0.24179	N	0.995593	B	0.06786	0.001	B	0.04013	0.001	T	0.37865	-0.9687	9	0.12766	T	0.61	.	6.2301	0.20730	0.0:0.5277:0.1384:0.3339	.	841	Q2TAC6	KIF19_HUMAN	V	841	ENSP00000374566:A841V	ENSP00000374566:A841V	A	+	2	0	KIF19	69862109	0.998000	0.40836	0.976000	0.42696	0.901000	0.52897	1.189000	0.32114	0.525000	0.28522	0.556000	0.70494	GCC			0.697	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319644.2		NM_153209		T	72350514	C	T	72350514	3	4	89	1	0	0	0	0	1	0	0	0	8297	739	26	2	2592	2	KIF19	17	72350514	Missense_Mutation	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	1157042	72350514	8844696	67	6269											
UNK	85451	mdanderson.org	37	chr17	73808667	73808667	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggagcctcggtggcaagGtacaggcatccacacctcgg	9	5	14	13	3	0	0	0	0	0	0	3	2	1	1	3	6	2	3	3	6	2	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr17:73808667G>T	ENST00000589666.1	+	4	732		c.e4+1		UNK_ENST00000293218.3_Splice_Site	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGTGGCAAGGTACAGGCATC	0.627																																					.													.	.			0			c.622+1G>T												39	44	42					17																	73808667		2078	4215	6293	SO:0001630	splice_region_variant	85451	exon4			GGCAAGGTACAGG	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.622+1G>T	17.37:g.73808667G>T			43	0	0		50	0.06	3	NM_001080419	0		0		Splice_Site	SNP	ENST00000589666.1	37	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192820	0.78902	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8899	0.86084	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNK	71320262	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	9.495000	0.97964	2.230000	0.72887	0.603000	0.83216	.			0.627	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448835.1		NM_001080419	Intron	T	73808667	G	T	73808667	5	4	89	1	0	0	0	0	0	0	1	0	17024	1275	44	3	869	3	UNK	17	73808667	Splice_Site	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	1458153	73808667	7386543	68	6270											
MBD1	4152	mdanderson.org	37	chr18	47800070	47800070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctgcttcgttggaGcctgggtatggtctggttgg	2	15	15	9	1	1	0	0	0	1	0	3	1	2	1	2	5	3	5	2	5	1	5			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr18:47800070G>T	ENST00000591416.1	-	12	1741	c.1310C>A	c.(1309-1311)gCt>gAt	p.A437D	MBD1_ENST00000398488.1_Missense_Mutation_p.A381D|MBD1_ENST00000347968.3_Missense_Mutation_p.A381D|MBD1_ENST00000585595.1_Missense_Mutation_p.A462D|MBD1_ENST00000591535.1_Missense_Mutation_p.A414D|MBD1_ENST00000424334.2_Missense_Mutation_p.A488D|MBD1_ENST00000269471.5_Missense_Mutation_p.A414D|MBD1_ENST00000349085.2_Missense_Mutation_p.A381D|MBD1_ENST00000398495.2_Missense_Mutation_p.A406D|MBD1_ENST00000436910.1_Missense_Mutation_p.A414D|MBD1_ENST00000587605.1_Missense_Mutation_p.A381D|MBD1_ENST00000398493.1_Missense_Mutation_p.A381D|MBD1_ENST00000382948.5_Missense_Mutation_p.A437D|MBD1_ENST00000590208.1_Missense_Mutation_p.A437D|MBD1_ENST00000585672.1_Missense_Mutation_p.A387D|MBD1_ENST00000588937.1_Missense_Mutation_p.A414D|MBD1_ENST00000269468.5_Missense_Mutation_p.A437D|MBD1_ENST00000353909.3_Missense_Mutation_p.A388D|MBD1_ENST00000339998.6_Missense_Mutation_p.A437D|MBD1_ENST00000457839.2_Missense_Mutation_p.A462D			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	437					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						CTTCGTTGGAGCCTGGGTATG	0.622																																					p.A462D													.	.			0			c.C1385A												103	88	93					18																	47800070		2203	4300	6503	SO:0001583	missense	4152	exon13			GTTGGAGCCTGGG	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.1310C>A	18.37:g.47800070G>T	ENSP00000467017:p.Ala437Asp		52	0	0		33	0.09	3	NM_001204137	106	0	0	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959818	0.02267	.	.	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	0.95518	-3.66;-3.66;-3.61;-3.66;-3.62;-3.72;-3.73;-3.65;-3.69;-3.65;-3.62;-3.61	4.32	1.47	0.22746	.	1.343710	0.04759	N	0.425951	D	0.85948	0.5816	N	0.02539	-0.55	0.09310	N	1	B;P;B;B;B;B;B;P;B;B;B;B	0.42203	0.009;0.756;0.001;0.0;0.002;0.008;0.002;0.773;0.0;0.005;0.0;0.005	B;B;B;B;B;B;B;B;B;B;B;B	0.39465	0.004;0.287;0.003;0.002;0.006;0.005;0.004;0.3;0.002;0.005;0.002;0.005	T	0.82456	-0.0448	10	0.33940	T	0.23	1.6828	3.6484	0.08194	0.2098:0.0:0.5868:0.2034	.	381;488;414;437;437;414;388;381;437;381;462;381	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	D	437;388;381;437;381;414;414;488;437;437;462;381;381	ENSP00000372407:A437D;ENSP00000269469:A388D;ENSP00000342531:A381D;ENSP00000269468:A437D;ENSP00000285102:A381D;ENSP00000409561:A414D;ENSP00000269471:A414D;ENSP00000408846:A488D;ENSP00000339546:A437D;ENSP00000405268:A462D;ENSP00000381506:A381D;ENSP00000381502:A381D	ENSP00000269468:A437D	A	-	2	0	MBD1	46054068	0.025000	0.19082	0.002000	0.10522	0.028000	0.11728	1.117000	0.31234	0.315000	0.23110	0.555000	0.69702	GCT			0.622	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255926.3		NM_015846		T	47800070	G	T	47800070	3	4	89	1	0	0	0	0	1	0	0	0	9358	971	34	2	721	2	MBD1	18	47800070	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		47800070	30277178	69	6271											
ZNRF4	148066	mdanderson.org	37	chr19	5455516	5455516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgcatgccgctctgccGtccggagcacttaatgccta	8	8	10	15	5	1	0	0	0	1	0	2	2	2	1	4	1	4	3	4	1	2	2	rs375127837	byFrequency	TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr19:5455516G>T	ENST00000222033.4	+	1	91	c.14G>T	c.(13-15)cGt>cTt	p.R5L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	5						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)		CCGCTCTGCCGTCCGGAGCAC	0.637																																					p.R5L													.	.			0			c.G14T												36	42	40					19																	5455516		2140	4248	6388	SO:0001583	missense	148066	exon1			TCTGCCGTCCGGA	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.14G>T	19.37:g.5455516G>T	ENSP00000222033:p.Arg5Leu		40	0	0		42	0.07	3	NM_181710	0		0	A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	8.819	0.937130	0.18206	.	.	ENSG00000105428	ENST00000222033	T	0.04809	3.55	2.78	-5.57	0.02521	.	.	.	.	.	T	0.02767	0.0083	N	0.14661	0.345	0.09310	N	1	B	0.21309	0.054	B	0.18561	0.022	T	0.43766	-0.9371	9	0.87932	D	0	.	6.727	0.23363	0.1631:0.2652:0.5716:0.0	.	5	Q8WWF5	ZNRF4_HUMAN	L	5	ENSP00000222033:R5L	ENSP00000222033:R5L	R	+	2	0	ZNRF4	5406516	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.398000	0.00240	-1.861000	0.01153	0.313000	0.20887	CGT			0.637	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450924.1		NM_181710		T	5455516	G	T	5455516	3	4	89	1	0	0	0	0	1	0	0	0	18237	1145	40	1	16	1	ZNRF4	19	5455516	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		5455516	53673467	70	6272											
CCDC155	147872	mdanderson.org	37	chr19	49920743	49920743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccccacctccagctctgCtacctccagccccctccagt	5	8	6	22	0	1	0	0	0	1	0	4	0	4	0	9	1	4	2	9	1	1	1			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr19:49920743C>T	ENST00000447857.3	+	20	1870	c.1665C>T	c.(1663-1665)tgC>tgT	p.C555C		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	555						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						TCCAGCTCTGCTACCTCCAGC	0.632																																					p.C555C													.	.			0			c.C1665T												33	35	35					19																	49920743		2065	4129	6194	SO:0001819	synonymous_variant	147872	exon20			GCTCTGCTACCTC		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.1665C>T	19.37:g.49920743C>T			27	0	0		37	0.08	3	NM_144688	10	0	0	Q96MC3	Silent	SNP	ENST00000447857.3	37	CCDS46140.1																																																																																					0.632	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465436.2		NM_144688		T	49920743	C	T	49920743	2	4	89	1	0	0	0	0	0	0	0	1	2790	805	28	2		2	CCDC155	19	49920743	Silent	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10	44465227	49920743	9208240	71	6273											
SLC2A10	81031	ucsc.edu;bcgsc.ca	37	chr20	45362413	45362413	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttcaccctgagctttggCcacaggcagaactccactgg	9	8	11	13	0	1	2	1	1	0	1	2	2	2	2	3	4	2	3	3	4	1	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr20:45362413C>T	ENST00000359271.2	+	5	1816	c.1566C>T	c.(1564-1566)ggC>ggT	p.G522G		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	522					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGAGCTTTGGCCACAGGCAGA	0.612																																					p.G522G													.	SLC2A10	75		0			c.C1566T												113	96	102					20																	45362413		2203	4300	6503	SO:0001819	synonymous_variant	81031	exon5			CTTTGGCCACAGG	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1566C>T	20.37:g.45362413C>T			53	0	0		37	0.11	4	NM_030777	28	0	0	A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	CCDS13402.1																																																																																					0.612	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079578.2				T	45362413	C	T	45362413	2	4	89	1	0	0	0	0	0	0	0	1	14562	726	26	2		2	SLC2A10	20	45362413	Silent	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10		45362413	17663107	72	6274											
LAMA5	3911	mdanderson.org	37	chr20	60922017	60922017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggcttccacggctgctGattgaagccggggcagcagc	7	6	15	13	3	0	2	0	2	0	0	1	2	1	2	2	4	4	6	2	4	1	2			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr20:60922017G>T	ENST00000252999.3	-	7	1090	c.1024C>A	c.(1024-1026)Cag>Aag	p.Q342K	LAMA5_ENST00000370677.3_Missense_Mutation_p.Q342K|LAMA5_ENST00000370692.3_Missense_Mutation_p.Q342K	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	342	Laminin EGF-like 1. {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)			CACGGCTGCTGATTGAAGCCG	0.662																																					p.Q342K													.	.			0			c.C1024A												52	51	51					20																	60922017		2203	4295	6498	SO:0001583	missense	3911	exon7			GCTGCTGATTGAA	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.1024C>A	20.37:g.60922017G>T	ENSP00000252999:p.Gln342Lys		58	0	0		39	0.08	3	NM_005560	22	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549661	0.86127	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.62788	0.0;0.0;0.0	4.67	4.67	0.58626	EGF-like, laminin (4);	0.000000	0.85682	U	0.000000	D	0.82462	0.5042	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.86052	0.1526	10	0.56958	D	0.05	.	17.5786	0.87958	0.0:0.0:1.0:0.0	.	342	O15230	LAMA5_HUMAN	K	342	ENSP00000252999:Q342K;ENSP00000359726:Q342K;ENSP00000359711:Q342K	ENSP00000252999:Q342K	Q	-	1	0	LAMA5	60355412	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.712000	0.84684	2.129000	0.65627	0.555000	0.69702	CAG			0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		T	60922017	G	T	60922017	3	4	89	1	0	0	0	0	1	0	0	0	8624	1299	45	3	10359	3	LAMA5	20	60922017	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10	15559604	60922017	2103503	73	6275											
KRTAP10-4	386672	ucsc.edu	37	chr21	45993851	45993851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcccagtgacctgCgagcccagcccctgccaatc	6	6	9	20	1	0	1	0	1	0	0	1	2	0	1	7	0	6	1	7	0	1	0	rs201895065		TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr21:45993851C>T	ENST00000400374.3	+	1	246	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	72	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						CAGTGACCTGCGAGCCCAGCC	0.721																																					p.C72C													.	KRTAP10-4	44		0			c.C216T												20	38	32					21																	45993851		1993	4191	6184	SO:0001819	synonymous_variant	386672	exon1			GACCTGCGAGCCC	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.216C>T	21.37:g.45993851C>T			13	0.1538461538	2		33	0.27	9	NM_198687	0		0	Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																					0.721	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128045.1		NM_198687		T	45993851	C	T	45993851	2	4	89	1	0	0	0	0	0	0	0	1	8526	776	27	1		1	KRTAP10-4	21	45993851	Silent	SNP	C	TCGA-SB-A6J6-01A-11D-A435-10		45993851	2136044	74	6276											
CARD10	29775	mdanderson.org	37	chr22	37887324	37887324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgtgtccccactcatggGcgggcacctgcacccaggag	6	6	13	16	2	1	0	1	0	0	0	2	1	2	1	4	3	2	2	4	3	0	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chr22:37887324G>T	ENST00000403299.1	-	21	3188	c.2972C>A	c.(2971-2973)gCc>gAc	p.A991D	CARD10_ENST00000251973.5_Missense_Mutation_p.A991D|CARD10_ENST00000406271.3_Missense_Mutation_p.A705D			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	991					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)					CCACTCATGGGCGGGCACCTG	0.726																																					p.A991D													.	.			0			c.C2972A												7	9	8					22																	37887324		2130	4229	6359	SO:0001583	missense	29775	exon20			TCATGGGCGGGCA	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.2972C>A	22.37:g.37887324G>T	ENSP00000384570:p.Ala991Asp		14	0	0		13	0.15	2	NM_014550	94	0	0	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256717	0.39896	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973	T;T;T	0.43688	0.94;1.63;0.94	5.16	0.442	0.16582	.	0.437819	0.22701	N	0.056694	T	0.32285	0.0824	L	0.43152	1.355	0.09310	N	1	B;B	0.32245	0.361;0.321	B;B	0.31751	0.068;0.135	T	0.21586	-1.0241	10	0.66056	D	0.02	-6.2489	9.6862	0.40100	0.0751:0.3832:0.5417:0.0	.	991;705	Q9BWT7;Q8NC81	CAR10_HUMAN;.	D	991;705;991	ENSP00000384570:A991D;ENSP00000385799:A705D;ENSP00000251973:A991D	ENSP00000251973:A991D	A	-	2	0	CARD10	36217270	0.174000	0.23070	0.001000	0.08648	0.969000	0.65631	2.864000	0.48404	-0.061000	0.13110	0.455000	0.32223	GCC			0.726	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318997.1		NM_014550		T	37887324	G	T	37887324	3	4	89	1	0	0	0	0	1	0	0	0	2646	1203	42	2	130	2	CARD10	22	37887324	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		37887324	13417242	75	6277											
PDHA1	5160	broad.mit.edu	37	chrX	19369427	19369427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtgggcctggaggccgGcatcaaccccacagaccatc	8	6	12	15	1	1	1	1	0	0	1	2	2	1	2	5	4	1	1	5	4	1	0			TCGA-SB-A6J6-01A-11D-A435-10	TCGA-SB-A6J6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fdfd4ff8-15a9-45b4-b360-def8726d63f1	f490534e-6bd1-4887-89fb-1eb9c49c2ca5	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					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)					CTGGAGGCCGGCATCAACCCC	0.507																																					p.G145D													.	PDHA1	85		0			c.G434A												102	94	97					X																	19369427		2203	4300	6503	SO:0001583	missense	5160	exon5			AGGCCGGCATCAA		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.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp		265	0	0		429	0.01	6	NM_001173454	171	0	0	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC			0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000055977.1				A	19369427	G	A	19369427	3	1	89	1	0	0	0	0	1	0	0	0	11681	1203	42	2	473	2	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-SB-A6J6-01A-11D-A435-10		19369427	135901133	76	6278											
PARK7	11315	mdanderson.org	37	chr1	8037729	8037729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggtcctactgctctgttgGctcatgaaataggttttgga	8	15	11	7	0	2	1	1	1	1	0	3	2	3	2	1	4	2	4	1	4	4	6			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:8037729G>T	ENST00000493678.1	+	6	407	c.340G>T	c.(340-342)Gct>Tct	p.A114S	PARK7_ENST00000338639.5_Missense_Mutation_p.A114S|PARK7_ENST00000377491.1_Missense_Mutation_p.A114S|PARK7_ENST00000377493.5_Missense_Mutation_p.A94S|PARK7_ENST00000377488.1_Missense_Mutation_p.A114S			Q99497	PARK7_HUMAN	parkinson protein 7	114					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	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;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCTGTTGGCTCATGAAAT	0.358																																					p.A114S													.	.			0			c.G340T												124	117	119					1																	8037729		2203	4300	6503	SO:0001583	missense	11315	exon6			CTGTTGGCTCATG	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"Parkinson disease"	16369	protein-coding gene	gene with protein product			"Parkinson disease (autosomal recessive, early onset) 7"			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.340G>T	1.37:g.8037729G>T	ENSP00000418770:p.Ala114Ser		65	0	0		40	0.08	3	NM_001123377	950	0	0	B2R4Z1|O14805|Q6DR95|Q7LFU2	Missense_Mutation	SNP	ENST00000493678.1	37	CCDS93.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135986	0.56936	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.92	5.92	0.95590	ThiJ/PfpI (1);	0.044618	0.85682	D	0.000000	T	0.75679	0.3882	L	0.31526	0.94	0.80722	D	1	B	0.13145	0.007	B	0.22601	0.04	T	0.68644	-0.5354	10	0.14252	T	0.57	.	17.8151	0.88630	0.0:0.0:1.0:0.0	.	114	Q99497	PARK7_HUMAN	S	114	ENSP00000340278:A114S;ENSP00000418770:A114S;ENSP00000366711:A114S;ENSP00000366708:A114S	ENSP00000340278:A114S	A	+	1	0	PARK7	7960316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.167000	0.94773	2.810000	0.96702	0.650000	0.86243	GCT			0.358	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000003577.1		NM_007262		T	8037729	G	T	8037729	3	4	90	1	0	0	0	0	1	0	0	0	11467	1203	42	2	358	2	PARK7	1	8037729	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		8037729	241212892	1	6279											
TMEM201	199953	mdanderson.org	37	chr1	9656058	9656058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactgcgagcagtacaacgGcttccaggaggtgtgggtca	9	7	14	11	2	1	0	1	0	0	0	2	2	2	1	2	4	4	3	2	4	2	2			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:9656058G>A	ENST00000340381.6	+	2	233	c.224G>A	c.(223-225)gGc>gAc	p.G75D	TMEM201_ENST00000340305.5_Missense_Mutation_p.G75D|TMEM201_ENST00000377376.4_Missense_Mutation_p.G75D	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	75					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTACAACGGCTTCCAGGAG	0.627																																					p.G75D													.	.			0			c.G224A												71	59	63					1																	9656058		2203	4300	6503	SO:0001583	missense	199953	exon2			ACAACGGCTTCCA		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.224G>A	1.37:g.9656058G>A	ENSP00000344503:p.Gly75Asp		68	0	0		32	0.09	3	NM_001010866	12	0	0	B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	G	31	5.093297	0.94149	.	.	ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83386	0.0015	9	0.66056	D	0.02	-39.388	15.9746	0.80054	0.0:0.0:1.0:0.0	.	75;75	E9PBR6;Q5SNT2-2	.;.	D	75	.	ENSP00000344772:G75D	G	+	2	0	TMEM201	9578645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.748000	0.91615	2.448000	0.82819	0.655000	0.94253	GGC			0.627	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127672.1		NM_001010866		A	9656058	G	A	9656058	3	1	90	1	0	0	0	0	1	0	0	0	16149	1203	42	2	230	2	TMEM201	1	9656058	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	1618329	9656058	239594563	2	6280											
EPHB2	2048	mdanderson.org	37	chr1	23111037	23111037	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtggagatgaagttttcGgtgcgtgactgcagcagcat	9	10	14	8	3	0	3	0	2	0	1	1	4	0	3	0	2	4	4	0	2	1	2	rs371651342		TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:23111037G>T	ENST00000400191.3	+	3	297	c.279G>T	c.(277-279)tcG>tcT	p.S93S	EPHB2_ENST00000544305.1_Silent_p.S93S|EPHB2_ENST00000374632.3_Silent_p.S93S|EPHB2_ENST00000374627.1_Silent_p.S87S|EPHB2_ENST00000374630.3_Silent_p.S93S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	93	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGAAGTTTTCGGTGCGTGACT	0.567																																					p.S93S													.	.			0			c.G279T												63	57	59					1																	23111037		2203	4300	6503	SO:0001819	synonymous_variant	2048	exon3			GTTTTCGGTGCGT	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.279G>T	1.37:g.23111037G>T			80	0	0		52	0.06	3	NM_004442	5	0	0	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37																																																																																						0.567	EPHB2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000008060.2		NM_017449		T	23111037	G	T	23111037	2	4	90	1	0	0	0	0	0	0	0	1	5182	1103	39	1		1	EPHB2	1	23111037	Silent	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	13454979	23111037	226139584	3	6281											
PHC2	1912	mdanderson.org	37	chr1	33796984	33796984	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaacagaagcgcttggaAcgcttgaacttataggcaaa	15	8	11	7	2	0	2	0	1	0	1	0	4	0	4	0	3	4	3	0	3	7	4			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:33796984A>G	ENST00000257118.5	-	11	2021	c.1968T>C	c.(1966-1968)cgT>cgC	p.R656R	PHC2_ENST00000431992.1_Silent_p.R627R|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Silent_p.R121R|PHC2_ENST00000373422.3_Silent_p.R262R|PHC2_ENST00000419414.2_Silent_p.R657R|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373418.3_Silent_p.R121R	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	656					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCGCTTGGAACGCTTGAACT	0.522																																					p.R656R													PHC2,colon,carcinoma,-2,1	PHC2	-2	1	0			c.T1968C												124	133	130					1																	33796984		2203	4300	6503	SO:0001819	synonymous_variant	1912	exon11			CTTGGAACGCTTG	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1968T>C	1.37:g.33796984A>G			76	0	0		43	0.07	3	NM_198040	29	0	0	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	CCDS378.1																																																																																					0.522	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000011895.1		NM_198040		G	33796984	A	G	33796984	2	3	90	1	0	0	0	0	0	0	0	1	11834	30	2	4		4	PHC2	1	33796984	Silent	SNP	A	TCGA-SB-A76C-01A-11D-A435-10	10685947	33796984	215453637	4	6282											
HIAT1	64645	broad.mit.edu	37	chr1	100525455	100525455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttgtcattccttagtGccccgcttattggtgctctt	3	19	9	10	1	2	0	1	0	1	0	3	0	3	0	3	1	2	4	3	1	2	7			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:100525455G>T	ENST00000370152.3	+	4	401	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	89					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATTCCTTAGTGCCCCGCTTAT	0.368																																					p.A89S													HIAT1,colon,carcinoma,-1,1	HIAT1	46	1	0			c.G265T												192	178	183					1																	100525455		2203	4300	6503	SO:0001583	missense	64645	exon4			CTTAGTGCCCCGC	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.265G>T	1.37:g.100525455G>T	ENSP00000359171:p.Ala89Ser		310	0	0		303	0.02	6	NM_033055	206	0	0	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	CCDS763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.399687|4.399687	0.83120|0.83120	.|.	.|.	ENSG00000156875|ENSG00000156875	ENST00000370152|ENST00000421661	T|.	0.80824|.	-1.42|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69753|0.69753	0.3146|0.3146	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	P|.	0.46220|.	0.874|.	P|.	0.53760|.	0.734|.	T|T	0.67313|0.67313	-0.5702|-0.5702	10|5	0.35671|.	T|.	0.21|.	-19.2777|-19.2777	19.5927|19.5927	0.95522|0.95522	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	89|.	Q96MC6|.	HIAT1_HUMAN|.	S|F	89|27	ENSP00000359171:A89S|.	ENSP00000359171:A89S|.	A|C	+|+	1|2	0|0	HIAT1|HIAT1	100298043|100298043	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	9.869000|9.869000	0.99810|0.99810	2.618000|2.618000	0.88619|0.88619	0.557000|0.557000	0.71058|0.71058	GCC|TGC			0.368	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000029657.1		NM_033055		T	100525455	G	T	100525455	3	4	90	1	0	0	0	0	1	0	0	0	7112	1319	46	2	279	2	HIAT1	1	100525455	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	66728471	100525455	148725166	5	6283											
NRAS	4893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	115258747	115258747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcgcttttcccaacaccaCctgctccaaccaccaccagt	9	8	5	19	1	0	0	0	0	0	0	2	0	2	0	7	0	4	2	7	0	2	2	rs121913237		TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:115258747C>T	ENST00000369535.4	-	2	288	c.35G>A	c.(34-36)gGt>gAt	p.G12D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		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.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(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)		CCCAACACCACCTGCTCCAAC	0.493	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																											p.G12D				Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	NRAS,NS,haematopoietic_neoplasm,0,861	NRAS	0	861	481	Substitution - Missense(481)	haematopoietic_and_lymphoid_tissue(375)|skin(59)|large_intestine(21)|testis(5)|thyroid(4)|central_nervous_system(3)|endometrium(3)|biliary_tract(3)|ovary(3)|soft_tissue(2)|lung(2)|prostate(1)	c.G35A							C	ASP/GLY	0,4406		0,0,2203	206	184	191	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	35	5.6	1	1	dbSNP_133	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRAS	NM_002524.4	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/190	115258747	1,13005	2203	4300	6503	SO:0001583	missense	4893	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	ACACCACCTGCTC	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.35G>A	1.37:g.115258747C>T	ENSP00000358548:p.Gly12Asp		281	0	0		222	0.17	38	NM_002524	64	0.25	16	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524414	0.96431	0.0	1.16E-4	ENSG00000213281	ENST00000369535	T	0.78595	-1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85252	0.5654	M	0.92604	3.325	0.80722	D	1	B	0.32467	0.372	B	0.42827	0.399	D	0.86173	0.1601	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	D	12	ENSP00000358548:G12D	ENSP00000358548:G12D	G	-	2	0	NRAS	115060270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT			0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033395.2		NM_002524		T	115258747	C	T	115258747	3	4	90	1	0	0	0	0	1	0	0	0	10657	507	18	3	550	3	NRAS	1	115258747	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	14733292	115258747	133991874	6	6284											
CFHR3	10878	hgsc.bcm.edu	37	chr1	196759345	196759345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggagagtggtcggaaccaCcaagatgcatacgtaagttc	13	8	12	8	2	0	2	0	0	0	2	2	4	0	3	2	3	3	3	2	3	4	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:196759345C>A	ENST00000367425.4	+	5	876	c.784C>A	c.(784-786)Cca>Aca	p.P262T	CFHR3_ENST00000391985.3_Missense_Mutation_p.P201T	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	262	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTCGGAACCACCAAGATGCAT	0.358																																					p.P262T													CFHR3,brain,primitive_neuroectodermal_tumour-medulloblastoma,-2,1	CFHR3	-2	1	0			c.C784A												30	42	38					1																	196759345		1530	3869	5399	SO:0001583	missense	10878	exon5			GAACCACCAAGAT	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.784C>A	1.37:g.196759345C>A	ENSP00000356395:p.Pro262Thr		466	0	0		345	0.05	17	NM_021023	0		0	B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451585	0.43531	.	.	ENSG00000116785	ENST00000367425;ENST00000391985	T;T	0.77489	-1.1;-1.1	3.27	3.27	0.37495	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.91294	0.7255	H	0.97240	3.965	0.22719	N	0.998811	D;D	0.89917	1.0;0.999	D;D	0.80764	0.982;0.994	T	0.82299	-0.0526	9	0.87932	D	0	.	10.3659	0.44024	0.0:1.0:0.0:0.0	.	201;262	B4DPR0;Q02985	.;FHR3_HUMAN	T	262;201	ENSP00000356395:P262T;ENSP00000375845:P201T	ENSP00000356395:P262T	P	+	1	0	CFHR3	195025968	0.521000	0.26258	0.292000	0.24919	0.018000	0.09664	3.272000	0.51616	1.527000	0.49086	0.184000	0.17185	CCA			0.358	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087505.2		NM_021023		A	196759345	C	A	196759345	3	1	90	1	0	0	0	0	1	0	0	0	3288	507	18	3	802	3	CFHR3	1	196759345	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	81500598	196759345	52491276	7	6285											
CFHR4	3080	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	196884256	196884256	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggagagtggtcggaaccaCcaagatgcatacgtaagttc	13	8	12	8	2	0	2	0	0	0	2	2	4	0	3	2	3	3	3	2	3	4	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:196884256C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.P509T|CFHR4_ENST00000608469.1_Missense_Mutation_p.P133T|CFHR4_ENST00000367418.2_Missense_Mutation_p.P263T|CFHR4_ENST00000251424.4_Missense_Mutation_p.P263T			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GTCGGAACCACCAAGATGCAT	0.353																																					p.P510T													CFHR4_ENST00000367416,right_lower_lobe,carcinoma,-1,2	CFHR4_ENST00000367416	-1	2	0			c.C1528A												71	73	72					1																	196884256		2199	4295	6494	SO:0001627	intron_variant	10877	exon9			GAACCACCAAGAT	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.59-34329C>A	1.37:g.196884256C>A			881	0	0		699	0.13	93	NM_001201550	0		0	Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37		.	.	.	.	.	.	.	.	.	.	C	13.78	2.340069	0.41398	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.77489	-1.1;-1.1;-1.1	3.33	3.33	0.38152	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.90521	0.7030	H	0.95539	3.685	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.81226	-0.1029	9	0.87932	D	0	.	10.4539	0.44539	0.0:1.0:0.0:0.0	.	509;510;263	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	T	509;263;263;263	ENSP00000356386:P509T;ENSP00000356388:P263T;ENSP00000251424:P263T	ENSP00000251424:P263T	P	+	1	0	CFHR4	195150879	0.371000	0.25056	0.012000	0.15200	0.195000	0.23768	3.192000	0.50989	1.569000	0.49696	0.436000	0.28706	CCA			0.353	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_005666		A	196884256	C	A	196884256	1	1	90	0	1	0	0	0	0	0	0	0	3289	507	18	3		3	CFHR4	1	196884256	Intron	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	124911	196884256	52366365	8	6286											
PIK3C2B	5287	broad.mit.edu	37	chr1	204401431	204401431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcgggaggcaaaggagaggGtcagccggtcatctgagccc	9	6	16	10	2	3	2	2	1	1	1	4	4	3	3	2	5	2	1	2	5	1	1			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:204401431G>T	ENST00000367187.3	-	28	4608	c.4052C>A	c.(4051-4053)aCc>aAc	p.T1351N	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.T1323N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1351					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAAGGAGAGGGTCAGCCGGTC	0.517																																					p.T1351N													.	PIK3C2B	142		0			c.C4052A												120	113	115					1																	204401431		2203	4300	6503	SO:0001583	missense	5287	exon28			GAGAGGGTCAGCC	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4052C>A	1.37:g.204401431G>T	ENSP00000356155:p.Thr1351Asn		178	0	0		154	0.04	6	NM_002646	43	0	0	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	g	19.88	3.908663	0.72868	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61392	0.11;0.26	6.07	6.07	0.98685	.	0.239623	0.42821	D	0.000657	T	0.50616	0.1626	L	0.36672	1.1	0.32556	N	0.531719	P;D	0.56035	0.647;0.974	P;P	0.44860	0.452;0.462	T	0.61048	-0.7141	10	0.35671	T	0.21	.	13.4575	0.61208	0.0718:0.0:0.9282:0.0	.	1323;1351	F5GWN5;O00750	.;P3C2B_HUMAN	N	1351;1323	ENSP00000356155:T1351N;ENSP00000400561:T1323N	ENSP00000356155:T1351N	T	-	2	0	PIK3C2B	202668054	0.823000	0.29233	1.000000	0.80357	0.996000	0.88848	2.758000	0.47565	2.891000	0.99171	0.651000	0.88453	ACC			0.517	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087965.1		NM_002646		T	204401431	G	T	204401431	3	4	90	1	0	0	0	0	1	0	0	0	11927	1261	44	3	880	3	PIK3C2B	1	204401431	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	7517175	204401431	44849190	9	6287											
NUCKS1	64710	bcgsc.ca	37	chr1	205688682	205688686	+	Frame_Shift_Del	DEL	TTTTC	TTTTC	-																															ctttagtctgggtttgggcaTtttcttttcttttctttcag																										TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	TTTTC	TTTTC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:205688682_205688686delTTTTC	ENST00000367142.4	-	6	803_807	c.501_505delGAAAA	c.(499-507)aagaaaatgfs	p.KKM167fs	NUCKS1_ENST00000464938.1_5'UTR	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	167	Lys-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGTTTGGGCATTTTCTTTTCTTTTC	0.312																																					p.167_169del													.	NUCKS1	28		0			c.501_505del																																									SO:0001589	frameshift_variant	64710	exon6			TGGGCATTTTCTT		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.501_505delGAAAA	1.37:g.205688692_205688696delTTTTC	ENSP00000356110:p.Lys167fs		276	0.0036231884	1		244	0.02	5	NM_022731	311	0	0	Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Frame_Shift_Del	DEL	ENST00000367142.4	37	CCDS30987.1																																																																																					0.312	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087729.1		NM_022731		-	205688686	TTTTC	-	205688682	7	5	90	1	0	1	0	1	0	0	0	0	10737	1493	52	0	234	0	NUCKS1	1	205688682	Frame_Shift_Del	DEL	TTTTC	TCGA-SB-A76C-01A-11D-A435-10	1287251	205688682	43561939	10	6288											
SMYD2	56950	mdanderson.org	37	chr1	214491483	214491483	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaggagtttgaatcacGtaagtctttctgtgaccagc	10	13	11	7	1	3	3	1	3	2	0	3	4	3	4	1	1	1	2	1	1	3	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr1:214491483G>T	ENST00000366957.5	+	4	431		c.e4+1		SMYD2_ENST00000491455.1_Splice_Site|SMYD2_ENST00000415093.2_Splice_Site	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TTTGAATCACGTAAGTCTTTC	0.468																																					.													.	.			0			c.409+1G>T												96	98	97					1																	214491483		2203	4300	6503	SO:0001630	splice_region_variant	56950	exon4			AATCACGTAAGTC	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.409+1G>T	1.37:g.214491483G>T			62	0	0		51	0.06	3	NM_020197	0		0	B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Splice_Site	SNP	ENST00000366957.5	37	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858357	0.91433	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6596	0.95859	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMYD2	212558106	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.583000	0.90794	2.648000	0.89879	0.561000	0.74099	.			0.468	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000089998.1		NM_020197	Intron	T	214491483	G	T	214491483	5	4	90	1	0	0	0	0	0	0	1	0	14845	1159	40	1	424	1	SMYD2	1	214491483	Splice_Site	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	8802801	214491483	34759138	11	6289											
OTOF	9381	mdanderson.org	37	chr2	26690000	26690000	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaatgcgctcctcctcggtGgagccatcctcatcatcccc	7	9	7	18	2	2	0	2	0	0	0	7	1	6	1	6	2	2	1	6	2	1	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr2:26690000G>T	ENST00000272371.2	-	35	4455	c.4329C>A	c.(4327-4329)tcC>tcA	p.S1443S	OTOF_ENST00000339598.3_Silent_p.S676S|OTOF_ENST00000402415.3_Silent_p.S753S|OTOF_ENST00000403946.3_Silent_p.S1443S|OTOF_ENST00000338581.6_Silent_p.S676S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1443					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCTCGGTGGAGCCATCCT	0.612																																					p.S1443S	GBM(102;732 1451 20652 24062 31372)												.	.			0			c.C4329A												62	56	58					2																	26690000		2203	4300	6503	SO:0001819	synonymous_variant	9381	exon35			CTCGGTGGAGCCA	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4329C>A	2.37:g.26690000G>T			30	0.0333333333	1		35	0.09	3	NM_194248	4	0	0	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																					0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000214047.3				T	26690000	G	T	26690000	2	4	90	1	0	0	0	0	0	0	0	1	11320	1335	47	3		3	OTOF	2	26690000	Silent	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		26690000	216509373	12	6290											
COL5A2	1290	mdanderson.org	37	chr2	189927992	189927992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggccatcttcccctggcGcaccctatagaattgacagg	9	8	10	14	2	1	2	0	1	1	1	2	3	2	2	4	3	0	1	4	3	3	4	rs145169816	byFrequency	TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr2:189927992G>A	ENST00000374866.3	-	27	2049	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	592					axon guidance (GO:0007411)|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)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCCCCTGGCGCACCCTATAG	0.507																																					p.A592V													COL5A2,NS,carcinoma,+1,2	COL5A2	1	2	0			c.C1775T												48	54	52					2																	189927992		2203	4300	6503	SO:0001583	missense	1290	exon27			CCTGGCGCACCCT	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1775C>T	2.37:g.189927992G>A	ENSP00000364000:p.Ala592Val		32	0	0		38	0.08	3	NM_000393	14	0	0	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911301	0.72983	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94457	-3.43	4.82	4.82	0.62117	.	0.147776	0.31071	N	0.008302	D	0.94331	0.8178	L	0.31476	0.935	0.58432	D	0.999997	P;D	0.76494	0.905;0.999	B;D	0.63488	0.304;0.915	D	0.93493	0.6837	9	.	.	.	.	15.4437	0.75213	0.0:0.1388:0.8612:0.0	.	232;592	Q5PR22;P05997	.;CO5A2_HUMAN	V	592;232	ENSP00000364000:A592V	.	A	-	2	0	COL5A2	189636237	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.274000	0.65569	2.377000	0.81083	0.460000	0.39030	GCG			0.507	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313523.1		NM_000393		A	189927992	G	A	189927992	3	1	90	1	0	0	0	0	1	0	0	0	3699	1087	38	1	2836	1	COL5A2	2	189927992	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	163237992	189927992	53271381	13	6291											
ADAMTS9	56999	mdanderson.org	37	chr3	64633628	64633628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacttgcctttccaggctcGcactccgtcccatcggccca	5	11	7	18	3	0	0	0	0	0	0	5	0	3	0	5	2	2	2	5	2	1	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr3:64633628G>A	ENST00000498707.1	-	11	2040	c.1698C>T	c.(1696-1698)tgC>tgT	p.C566C	ADAMTS9_ENST00000295903.4_Silent_p.C538C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	566	Disintegrin.				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)		TTCCAGGCTCGCACTCCGTCC	0.512																																					p.C566C													.	.			0			c.C1698T												127	115	119					3																	64633628		2203	4300	6503	SO:0001819	synonymous_variant	56999	exon11			AGGCTCGCACTCC	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.1698C>T	3.37:g.64633628G>A			64	0	0		41	0.07	3	NM_182920	0		0	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	CCDS2903.1																																																																																					0.512	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351891.1				A	64633628	G	A	64633628	2	1	90	1	0	0	0	0	0	0	0	1	273	1079	38	1		1	ADAMTS9	3	64633628	Silent	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		64633628	133388802	14	6292											
LRIT3	345193	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	110788886	110788886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accctgctatagtgcttctgGatccactgatgacttgcagt	8	13	9	11	0	1	2	0	2	1	0	2	3	2	3	2	1	3	3	2	1	2	4			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr4:110788886G>T	ENST00000594814.1	+	3	679	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	LRIT3_ENST00000409621.2_Missense_Mutation_p.D44Y|LRIT3_ENST00000379920.3_Missense_Mutation_p.D182Y|LRIT3_ENST00000327908.3_Missense_Mutation_p.D44Y	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	227	LRRCT.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGTGCTTCTGGATCCACTGAT	0.453																																					p.D227Y													.	.			0			c.G679T												144	121	129					4																	110788886		2203	4300	6503	SO:0001583	missense	345193	exon3			CTTCTGGATCCAC	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.679G>T	4.37:g.110788886G>T	ENSP00000469759:p.Asp227Tyr		157	0	0		82	0.07	6	NM_198506	0		0	C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525143	0.85600	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.60040	0.22;0.66;0.22	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81437	-0.0933	10	0.87932	D	0	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	182;44	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	Y	44;182;44	ENSP00000328222:D44Y;ENSP00000369252:D182Y;ENSP00000386734:D44Y	ENSP00000328222:D44Y	D	+	1	0	LRIT3	111008335	1.000000	0.71417	0.827000	0.32855	0.760000	0.43138	9.476000	0.97823	2.789000	0.95967	0.655000	0.94253	GAT			0.453	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335270.2		NM_198506		T	110788886	G	T	110788886	3	4	90	1	0	0	0	0	1	0	0	0	8965	1174	41	3	550	3	LRIT3	4	110788886	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		110788886	80365390	15	6293											
PCDHA6	56142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140208298	140208298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaggaagctcctgcaCacaacttattcctgacagcc	13	7	8	13	0	0	2	0	1	0	1	2	4	2	3	3	1	4	2	3	1	3	2			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr5:140208298C>T	ENST00000529310.1	+	1	736	c.622C>T	c.(622-624)Cac>Tac	p.H208Y	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.H208Y|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_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	208	Cadherin 2. {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)			AGCTCCTGCACACAACTTATT	0.458																																					p.H208Y													.	.			0			c.C622T												69	70	70					5																	140208298		2203	4300	6503	SO:0001583	missense	56142	exon1			CCTGCACACAACT	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.622C>T	5.37:g.140208298C>T	ENSP00000433378:p.His208Tyr		161	0	0		119	0.22	26	NM_018909	1	1	1	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	4.758	0.140900	0.09083	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.24723	1.84;1.84	3.7	3.7	0.42460	Cadherin (4);Cadherin-like (1);	0.212321	0.22770	U	0.055860	T	0.22627	0.0546	L	0.31752	0.955	0.09310	N	1	B;B;B	0.16802	0.019;0.013;0.007	B;B;B	0.25884	0.038;0.064;0.02	T	0.27502	-1.0072	10	0.56958	D	0.05	.	15.9817	0.80114	0.0:1.0:0.0:0.0	.	208;208;208	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	Y	208	ENSP00000433378:H208Y;ENSP00000434113:H208Y	ENSP00000434113:H208Y	H	+	1	0	PCDHA6	140188482	0.021000	0.18746	0.304000	0.25085	0.494000	0.33585	2.491000	0.45303	2.055000	0.61198	0.313000	0.20887	CAC			0.458	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372829.3		NM_018909		T	140208298	C	T	140208298	3	4	90	1	0	0	0	0	1	0	0	0	11545	478	17	3	624	3	PCDHA6	5	140208298	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10		140208298	40706962	16	6294											
PPP2R2B	5521	hgsc.bcm.edu	37	chr5	146017851	146017851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggcagatgcccgcatGtcacacagccggattgtccc	9	6	11	15	2	1	1	1	0	0	1	2	2	2	2	3	2	2	2	3	2	0	1			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr5:146017851G>T	ENST00000394413.3	-	6	1323	c.753C>A	c.(751-753)gaC>gaA	p.D251E	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D251E|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D309E|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D251E|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D254E|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D257E|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D251E|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D317E|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D240E|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D240E			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	251					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCCCGCATGTCACACAGCC	0.597																																					p.D357E													.	.			0			c.C1071A												143	107	119					5																	146017851		2203	4300	6503	SO:0001583	missense	5521	exon7			CCGCATGTCACAC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.753C>A	5.37:g.146017851G>T	ENSP00000377935:p.Asp251Glu		117	0	0		89	0.04	4	NM_181675	2	0	0	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339561	0.81911	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	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	5.4	3.63	0.41609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.88105	2.93	0.80722	D	1	P;P;P;P;P;P	0.45827	0.7;0.7;0.7;0.7;0.867;0.7	B;B;B;P;P;B	0.56563	0.431;0.431;0.431;0.568;0.801;0.431	T	0.71034	-0.4709	10	0.87932	D	0	-0.7207	10.9151	0.47131	0.2089:0.0:0.7911:0.0	.	309;257;240;317;254;251	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	E	251;240;317;251;251;251;240;254;257;309	ENSP00000377935:D251E;ENSP00000431320:D240E;ENSP00000377936:D317E;ENSP00000377933:D251E;ENSP00000349283:D251E;ENSP00000398779:D251E;ENSP00000377932:D240E;ENSP00000336591:D254E;ENSP00000421396:D257E;ENSP00000377931:D309E	ENSP00000336591:D254E	D	-	3	2	AC011357.1	145998044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.455000	0.60075	0.667000	0.31107	0.650000	0.86243	GAC			0.597	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251893.2		NM_181678		T	146017851	G	T	146017851	3	4	90	1	0	0	0	0	1	0	0	0	12405	1368	48	3	594	3	PPP2R2B	5	146017851	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	5809553	146017851	34897409	17	6295											
F12	2161	bcgsc.ca;mdanderson.org	37	chr5	176836088	176836088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtacttatgctccttggggGcttcccaaggtggaatctac	7	13	11	10	0	1	0	0	0	1	0	3	1	3	1	2	4	3	3	2	4	5	5			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr5:176836088G>T	ENST00000253496.3	-	2	122	c.74C>A	c.(73-75)gCc>gAc	p.A25D		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	25					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CTCCTTGGGGGCTTCCCAAGG	0.547									Hereditary Angioedema																												p.A25D													.	F12	35		0			c.C74A												86	82	83					5																	176836088		2106	4048	6154	SO:0001583	missense	2161	exon2	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	TTGGGGGCTTCCC	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.74C>A	5.37:g.176836088G>T	ENSP00000253496:p.Ala25Asp		110	0	0		65	0.08	5	NM_000505	0		0	P78339	Missense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	4.857	0.159298	0.09236	.	.	ENSG00000131187	ENST00000253496	D	0.89270	-2.49	4.09	-4.1	0.03940	.	1.478870	0.04373	N	0.359414	T	0.71558	0.3354	N	0.05230	-0.09	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57590	-0.7785	10	0.30854	T	0.27	.	1.0031	0.01481	0.1681:0.2476:0.207:0.3772	.	25	P00748	FA12_HUMAN	D	25	ENSP00000253496:A25D	ENSP00000253496:A25D	A	-	2	0	F12	176768694	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-2.287000	0.01151	-0.958000	0.03622	-0.150000	0.13652	GCC			0.547	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373217.1				T	176836088	G	T	176836088	3	4	90	1	0	0	0	0	1	0	0	0	5346	1203	42	2	1825	2	F12	5	176836088	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	30818237	176836088	4079172	18	6296											
PECI	10455	broad.mit.edu	37	chr6	4133832	4133832	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacttcgtttcctggatccTttttcaagagtttcacttga	7	18	6	10	1	3	2	3	1	0	1	6	3	5	3	2	1	0	2	2	1	1	6			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr6:4133832T>C	ENST00000380118.3	-	2	200	c.164A>G	c.(163-165)aAg>aGg	p.K55R	RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000361538.2_Missense_Mutation_p.K25R|ECI2_ENST00000413766.2_5'UTR|RP3-400B16.1_ENST00000427049.2_lincRNA|ECI2_ENST00000380125.2_Missense_Mutation_p.K25R|ECI2_ENST00000465828.1_Missense_Mutation_p.K25R			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	55	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TCCTGGATCCTTTTTCAAGAG	0.398																																					p.K55R													ECI2_ENST00000380118,NS,malignant_melanoma,0,2	ECI2	59	2	0			c.A164G												217	201	206					6																	4133832		2203	4300	6503	SO:0001583	missense	10455	exon2			GGATCCTTTTTCA	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.164A>G	6.37:g.4133832T>C	ENSP00000369461:p.Lys55Arg		176	0	0		110	0.03	3	NM_206836	182	0	0	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191753	0.78902	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.98	5.98	0.97165	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	21.516500	0.00166	N	0.000000	T	0.31796	0.0808	M	0.78223	2.4	0.80722	D	1	B	0.20988	0.05	B	0.35899	0.213	T	0.34850	-0.9812	10	0.54805	T	0.06	.	14.4143	0.67139	0.0:0.0:0.0:1.0	.	55	O75521	ECI2_HUMAN	R	55;25;25;25;102	ENSP00000369461:K55R;ENSP00000369468:K25R;ENSP00000354737:K25R;ENSP00000420309:K25R;ENSP00000417459:K102R	ENSP00000354737:K25R	K	-	2	0	ECI2	4078831	0.659000	0.27411	0.999000	0.59377	0.997000	0.91878	3.003000	0.49505	2.289000	0.77006	0.533000	0.62120	AAG			0.398	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039716.4		NM_006117		C	4133832	T	C	4133832	3	2	90	1	0	0	0	0	1	0	0	0	11733	1609	56	4	1056	4	PECI	6	4133832	Missense_Mutation	SNP	T	TCGA-SB-A76C-01A-11D-A435-10		4133832	166981235	19	6297											
BTN2A2	10385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26385530	26385530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagaatgggatctacCgctgttacttccaagaaggc	11	8	11	11	1	1	2	0	0	1	2	2	4	2	3	3	3	2	2	3	3	5	3	rs555925050	byFrequency	TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr6:26385530C>A	ENST00000356709.4	+	3	493	c.382C>A	c.(382-384)Cgc>Agc	p.R128S	BTN2A2_ENST00000469230.1_Missense_Mutation_p.R128S|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R128S|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R128S|BTN2A2_ENST00000352867.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	128	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGGGATCTACCGCTGTTACTT	0.517																																					p.R128S													BTN2A2_ENST00000432533,colon,carcinoma,-1,2	BTN2A2_ENST00000432533	-1	2	0			c.C382A												109	90	97					6																	26385530		2203	4300	6503	SO:0001583	missense	10385	exon3			ATCTACCGCTGTT	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.382C>A	6.37:g.26385530C>A	ENSP00000349143:p.Arg128Ser		128	0	0		117	0.19	22	NM_001197238	6	0.17	1	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	t	12.59	1.983391	0.35036	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	3.75	0.899	0.19271	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.363710	0.04587	N	0.395975	T	0.36580	0.0972	L	0.33710	1.025	0.09310	N	1	P;P;P	0.42357	0.677;0.484;0.777	B;B;P	0.50378	0.308;0.311;0.639	T	0.22661	-1.0210	10	0.22109	T	0.4	.	3.2301	0.06745	0.184:0.4865:0.0:0.3296	.	128;128;128	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	S	128	ENSP00000417472:R128S;ENSP00000349143:R128S;ENSP00000418857:R128S;ENSP00000394241:R128S;ENSP00000399308:R128S	ENSP00000349143:R128S	R	+	1	0	BTN2A2	26493509	0.000000	0.05858	0.823000	0.32752	0.782000	0.44232	-0.575000	0.05861	-0.156000	0.11079	-0.384000	0.06662	CGC			0.517	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040117.1				A	26385530	C	A	26385530	3	1	90	1	0	0	0	0	1	0	0	0	1563	652	23	1	388	1	BTN2A2	6	26385530	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	22251698	26385530	144729537	20	6298											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974822	42974822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgtgatgttgtcactgagGccatttaccctgaggctgtc	6	12	12	11	1	1	3	1	3	0	0	2	3	1	3	3	2	1	2	3	2	1	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr6:42974822G>T	ENST00000485511.1	+	4	675	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.A134S|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.A158S|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.A60S	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	166					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)			TGTCACTGAGGCCATTTACCC	0.577																																					p.A166S	Melanoma(63;587 1613 29742 31770)												.	PPP2R5D	47		0			c.G496T												112	103	106					6																	42974822		2203	4300	6503	SO:0001583	missense	5528	exon4			ACTGAGGCCATTT	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.496G>T	6.37:g.42974822G>T	ENSP00000417963:p.Ala166Ser		137	0	0		91	0.04	4	NM_006245	100	0	0	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.98|12.98	2.099888|2.099888	0.37048|0.37048	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	T;T;T;T|.	0.43688|.	0.94;0.96;0.95;0.95|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Armadillo-type fold (1);|.	0.247967|.	0.39909|.	N|.	0.001221|.	T|T	0.26448|0.26448	0.0646|0.0646	N|N	0.11560|0.11560	0.145|0.145	0.39569|0.39569	D|D	0.969254|0.969254	B;B;B;B|.	0.14805|.	0.001;0.011;0.008;0.011|.	B;B;B;B|.	0.21151|.	0.005;0.004;0.033;0.004|.	T|T	0.12863|0.12863	-1.0531|-1.0531	10|5	0.31617|.	T|.	0.26|.	-17.5793|-17.5793	14.5673|14.5673	0.68185|0.68185	0.0:0.1458:0.8542:0.0|0.0:0.1458:0.8542:0.0	.|.	60;166;166;134|.	Q14738-3;F5GYS1;Q14738;Q14738-2|.	.;.;2A5D_HUMAN;.|.	S|V	166;134;158;166;60|85	ENSP00000417963:A166S;ENSP00000377669:A134S;ENSP00000420550:A158S;ENSP00000420674:A60S|.	ENSP00000377669:A134S|.	A|G	+|+	1|2	0|0	PPP2R5D|PPP2R5D	43082800|43082800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.819000|1.819000	0.39022|0.39022	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GCC|GGC			0.577	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040573.3		NM_006245		T	42974822	G	T	42974822	3	4	90	1	0	0	0	0	1	0	0	0	12415	1203	42	2	510	2	PPP2R5D	6	42974822	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	16589292	42974822	128140245	21	6299											
MTO1	25821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	74171583	74171583	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttttctcccagcatgttCtacttccgaggctgtggccg	5	14	10	12	2	2	0	0	0	2	0	4	2	3	0	3	2	2	3	3	2	1	5			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr6:74171583C>G	ENST00000370300.4	+	1	96	c.6C>G	c.(4-6)ttC>ttG	p.F2L	MTO1_ENST00000415954.2_Missense_Mutation_p.F2L|MTO1_ENST00000370305.1_Intron|RNU6-975P_ENST00000384296.1_RNA|MTO1_ENST00000498286.1_Missense_Mutation_p.F2L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	2					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						CCAGCATGTTCTACTTCCGAG	0.552																																					p.F2L													.	.			0			c.C6G												65	63	64					6																	74171583		2203	4300	6503	SO:0001583	missense	25821	exon1			CATGTTCTACTTC	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.6C>G	6.37:g.74171583C>G	ENSP00000359323:p.Phe2Leu		242	0	0		181	0.24	43	NM_133645	48	0.38	18	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	C	9.560	1.118152	0.20877	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370300	.	.	.	4.79	0.918	0.19386	.	0.246149	0.31697	N	0.007218	T	0.05823	0.0152	N	0.12182	0.205	0.19575	N	0.999967	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.002;0.004;0.001	T	0.39143	-0.9628	9	0.28530	T	0.3	-7.9363	6.6301	0.22851	0.0:0.5813:0.0:0.4187	.	2;2;2	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	L	2	.	ENSP00000350506:F2L	F	+	3	2	MTO1	74228304	0.050000	0.20438	0.155000	0.22561	0.126000	0.20510	-0.127000	0.10547	-0.021000	0.14009	0.555000	0.69702	TTC			0.552	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000041215.2		NM_012123		G	74171583	C	G	74171583	3	3	90	1	0	0	0	0	1	0	0	0	9969	912	32	5	8	5	MTO1	6	74171583	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	31196761	74171583	96943484	22	6300											
AQP1	358	broad.mit.edu	37	chr7	30963100	30963100	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattcatcgggggagccctGgctgtactcatctacgactt	7	11	10	13	2	3	0	2	0	1	0	4	2	3	1	2	3	3	2	2	3	2	4			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr7:30963100G>T	ENST00000311813.4	+	4	721	c.666G>T	c.(664-666)ctG>ctT	p.L222L	AQP1_ENST00000434909.2_Silent_p.L282L|AQP1_ENST00000409899.1_Silent_p.L107L|AQP1_ENST00000441328.2_Silent_p.L139L|AQP1_ENST00000509504.1_Silent_p.L399L|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Silent_p.L171L	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	222					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|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)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	GGGGAGCCCTGGCTGTACTCA	0.597																																					p.L222L													.	AQP1	38		0			c.G666T												53	47	49					7																	30963100		2203	4300	6503	SO:0001819	synonymous_variant	358	exon4			AGCCCTGGCTGTA	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.666G>T	7.37:g.30963100G>T			154	0	0		213	0.02	4	NM_198098	94	0	0	B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Silent	SNP	ENST00000311813.4	37	CCDS5431.1																																																																																					0.597	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215002.3		NM_000385		T	30963100	G	T	30963100	2	4	90	1	0	0	0	0	0	0	0	1	821	1335	47	3		3	AQP1	7	30963100	Silent	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		30963100	128175563	23	6301											
DDC	1644	mdanderson.org	37	chr7	50544328	50544328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcccacttacccggtaGtcagtgataagccctggaga	11	9	9	12	1	2	2	1	1	1	1	3	3	2	2	3	2	2	1	3	2	4	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr7:50544328G>T	ENST00000444124.2	-	11	1235	c.1035C>A	c.(1033-1035)gaC>gaA	p.D345E	DDC_ENST00000431062.1_Missense_Mutation_p.D252E|DDC_ENST00000357936.5_Missense_Mutation_p.D345E|DDC_ENST00000426377.1_Missense_Mutation_p.D267E	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	345					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TTACCCGGTAGTCAGTGATAA	0.448																																					p.D345E													.	.			0			c.C1035A												68	64	65					7																	50544328		2203	4300	6503	SO:0001583	missense	1644	exon11			CCGGTAGTCAGTG		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1035C>A	7.37:g.50544328G>T	ENSP00000403644:p.Asp345Glu		31	0	0		40	0.08	3	NM_001082971	0		0	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.03|14.03	2.412729|2.412729	0.42817|0.42817	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124|ENST00000430300	T;T;T;T|.	0.56275|.	0.47;0.47;0.47;0.47|.	5.4|5.4	3.57|3.57	0.40892|0.40892	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.882848|.	0.09961|.	N|.	0.733384|.	T|T	0.73969|0.73969	0.3655|0.3655	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	B;B|.	0.27679|.	0.185;0.185|.	B;B|.	0.19148|.	0.024;0.024|.	T|T	0.75286|0.75286	-0.3371|-0.3371	10|5	0.87932|.	D|.	0|.	-12.396|-12.396	6.6187|6.6187	0.22790|0.22790	0.2643:0.0:0.7357:0.0|0.2643:0.0:0.7357:0.0	.|.	345;345|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	E|N	345;252;267;345|226	ENSP00000350616:D345E;ENSP00000399184:D252E;ENSP00000395069:D267E;ENSP00000403644:D345E|.	ENSP00000350616:D345E|.	D|T	-|-	3|2	2|0	DDC|DDC	50511822|50511822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.648000|0.648000	0.38561|0.38561	0.879000|0.879000	0.28146|0.28146	1.400000|1.400000	0.46741|0.46741	0.650000|0.650000	0.86243|0.86243	GAC|ACT			0.448	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342593.1				T	50544328	G	T	50544328	3	4	90	1	0	0	0	0	1	0	0	0	4327	1020	36	3	423	3	DDC	7	50544328	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	19581228	50544328	108594335	24	6302											
SCARA5	286133	mdanderson.org	37	chr8	27779486	27779486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgctctgctggcccgtgCggtcccgcagcagggccacc	3	7	14	17	4	1	0	0	0	1	0	3	0	2	0	4	3	3	4	4	3	0	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr8:27779486C>T	ENST00000354914.3	-	4	1003	c.518G>A	c.(517-519)cGc>cAc	p.R173H	SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000518030.1_Missense_Mutation_p.R130H|SCARA5_ENST00000301906.4_Missense_Mutation_p.R130H|SCARA5_ENST00000524352.1_Missense_Mutation_p.R173H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	173					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CTGGCCCGTGCGGTCCCGCAG	0.741																																					p.R173H													.	.			0			c.G518A												4	5	5					8																	27779486		1860	3835	5695	SO:0001583	missense	286133	exon4			CCCGTGCGGTCCC	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.518G>A	8.37:g.27779486C>T	ENSP00000346990:p.Arg173His		22	0	0		17	0.18	3	NM_173833	0		0	Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	8.985	0.976407	0.18736	.	.	ENSG00000168079	ENST00000354914;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D	0.91011	-2.39;-2.77;-2.68;-2.68	4.56	1.72	0.24424	.	0.544743	0.19105	N	0.122612	T	0.82042	0.4951	L	0.38531	1.155	0.20489	N	0.999898	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.0	T	0.63033	-0.6727	10	0.13853	T	0.58	.	7.2781	0.26296	0.0:0.6346:0.0:0.3654	.	173;130;173	Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;SCAR5_HUMAN	H	173;173;130;130	ENSP00000346990:R173H;ENSP00000428663:R173H;ENSP00000430713:R130H;ENSP00000301906:R130H	ENSP00000301906:R130H	R	-	2	0	SCARA5	27835405	0.462000	0.25791	0.869000	0.34112	0.885000	0.51271	0.315000	0.19451	0.052000	0.16007	0.462000	0.41574	CGC			0.741	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255223.2		NM_173833		T	27779486	C	T	27779486	3	4	90	1	0	0	0	0	1	0	0	0	13903	768	27	1	993	1	SCARA5	8	27779486	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10		27779486	118584536	25	6303											
OTUD6B	51633	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	92096281	92096284	+	Frame_Shift_Del	DEL	CAGG	CAGG	-																															aaacaccaatagagataataCaggcagattctcctcccatt																										TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	CAGG	CAGG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr8:92096281_92096284delCAGG	ENST00000285420.4	+	6	925_928	c.826_829delCAGG	c.(826-831)caggcafs	p.QA276fs	OTUD6B_ENST00000404789.3_Frame_Shift_Del_p.QA145fs	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	246	His-loop. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AGAGATAATACAGGCAGATTCTCC	0.294																																					p.275_276del													.	OTUD6B	28		0			c.825_828del																																									SO:0001589	frameshift_variant	51633	exon6			ATAATACAGGCAG		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.826_829delCAGG	8.37:g.92096281_92096284delCAGG	ENSP00000285420:p.Gln276fs		332	0	0		320	0	0	NM_016023	36	0	0	A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Frame_Shift_Del	DEL	ENST00000285420.4	37	CCDS6253.2																																																																																					0.294	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000319968.1		NM_016023		-	92096284	CAGG	-	92096281	7	5	90	1	0	1	0	1	0	0	0	0	11334	479	17	0	848	0	OTUD6B	8	92096281	Frame_Shift_Del	DEL	CAGG	TCGA-SB-A76C-01A-11D-A435-10	64316795	92096281	54267741	26	6304											
RBM12B	389677	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	94746362	94746362	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccgcctgaagtgctctggGggtggccgccggaagtgctc	4	7	18	12	3	1	1	0	1	1	0	2	2	1	2	4	5	2	2	4	5	2	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr8:94746362G>T	ENST00000399300.2	-	3	2490	c.2277C>A	c.(2275-2277)ccC>ccA	p.P759P	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.P639P|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	759							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)			AGTGCTCTGGGGGTGGCCGCC	0.682																																					p.P759P													.	RBM12B	78		0			c.C2277A												31	37	35					8																	94746362		1795	4037	5832	SO:0001819	synonymous_variant	389677	exon3			CTCTGGGGGTGGC		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.2277C>A	8.37:g.94746362G>T			93	0	0		76	0.07	5	NM_203390	67	0	0	A8MYB5	Silent	SNP	ENST00000399300.2	37	CCDS43755.1																																																																																					0.682	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383603.1		NM_203390		T	94746362	G	T	94746362	2	4	90	1	0	0	0	0	0	0	0	1	13137	1219	43	3		3	RBM12B	8	94746362	Silent	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	2650081	94746362	51617660	27	6305											
COL14A1	7373	broad.mit.edu	37	chr8	121219207	121219207	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgccatcactgggccGcctacggagttgattacttc	7	10	10	14	2	1	1	1	1	0	0	2	2	1	2	4	2	3	1	4	2	2	4			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr8:121219207G>T	ENST00000297848.3	+	10	1335	c.1065G>T	c.(1063-1065)ccG>ccT	p.P355P	COL14A1_ENST00000247781.3_Silent_p.P260P|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.P355P|COL14A1_ENST00000537875.1_Silent_p.P355P	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)			TCACTGGGCCGCCTACGGAGT	0.398																																					p.P355P													.	COL14A1	292		0			c.G1065T												60	56	58					8																	121219207		2203	4300	6503	SO:0001819	synonymous_variant	7373	exon10			TGGGCCGCCTACG		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.1065G>T	8.37:g.121219207G>T			116	0	0		130	0.04	5	NM_021110	5	0	0		Silent	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	8.737	0.917998	0.17982	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51466	-0.8702	4	.	.	.	.	6.2333	0.20747	0.1503:0.0749:0.5425:0.2323	.	.	.	.	S	112	.	.	A	+	1	0	COL14A1	121288388	0.454000	0.25728	0.648000	0.29521	0.937000	0.57800	-0.360000	0.07622	-2.431000	0.00556	-0.469000	0.05056	GCC			0.398	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313657.2		NM_021110		T	121219207	G	T	121219207	2	4	90	1	0	0	0	0	0	0	0	1	3673	1074	38	1		1	COL14A1	8	121219207	Silent	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	26472845	121219207	25144815	28	6306											
CENPP	401541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	95094481	95094481	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagccatacaccaattcaAtttggaaggatggaagtctt	14	11	8	8	0	3	0	2	0	1	0	3	3	3	3	2	3	2	0	2	3	6	4			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr9:95094481A>G	ENST00000375587.3	+	2	652	c.137A>G	c.(136-138)aAt>aGt	p.N46S		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	46					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CACCAATTCAATTTGGAAGGA	0.323																																					p.N46S													.	.			0			c.A137G												66	64	64					9																	95094481		2203	4299	6502	SO:0001583	missense	401541	exon2			AATTCAATTTGGA	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.137A>G	9.37:g.95094481A>G	ENSP00000364737:p.Asn46Ser		202	0	0		165	0.16	27	NM_001012267	23	0.35	8	B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	A	0.654	-0.808461	0.02819	.	.	ENSG00000188312	ENST00000375587	.	.	.	4.71	2.32	0.28847	.	0.933386	0.08937	N	0.872105	T	0.28400	0.0702	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24693	-1.0153	9	0.38643	T	0.18	-1.3979	7.0713	0.25179	0.7632:0.1499:0.0869:0.0	.	46	Q6IPU0	CENPP_HUMAN	S	46	.	ENSP00000364737:N46S	N	+	2	0	CENPP	94134302	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.343000	0.33930	0.049000	0.15920	-2.946000	0.00085	AAT			0.323	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053098.1		NM_001012267		G	95094481	A	G	95094481	3	3	90	1	0	0	0	0	1	0	0	0	3242	101	4	4	143	4	CENPP	9	95094481	Missense_Mutation	SNP	A	TCGA-SB-A76C-01A-11D-A435-10		95094481	46118950	29	6307											
DNM1	1759	mdanderson.org	37	chr9	130965862	130965862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgcagatcgctgtggtggGcggccagagcgccggcaaga	7	4	18	12	5	0	3	0	0	0	3	1	3	0	3	3	4	1	3	3	4	1	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr9:130965862G>T	ENST00000372923.3	+	1	205	c.113G>T	c.(112-114)gGc>gTc	p.G38V	DNM1_ENST00000393594.3_Missense_Mutation_p.G38V|CIZ1_ENST00000372948.3_Intron|DNM1_ENST00000475805.1_Missense_Mutation_p.G38V|DNM1_ENST00000486160.1_Missense_Mutation_p.G38V|DNM1_ENST00000341179.7_Missense_Mutation_p.G38V|CIZ1_ENST00000393608.1_Intron	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	38	Dynamin-type G.				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						GCTGTGGTGGGCGGCCAGAGC	0.692																																					.	GBM(113;146 1575 2722 28670 29921)												.	.			0			.												14	15	14					9																	130965862		2174	4257	6431	SO:0001583	missense	1759	.			TGGTGGGCGGCCA	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.113G>T	9.37:g.130965862G>T	ENSP00000362014:p.Gly38Val		31	0	0		29	0.1	3	.	8	0	0	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258016	0.95368	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	D;D;D;D;D	0.99931	-8.19;-8.19;-8.19;-8.19;-8.19	4.08	4.08	0.47627	Dynamin, GTPase domain (2);	0.192669	0.45126	D	0.000385	D	0.99945	0.9976	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.991;0.991	D	0.95741	0.8783	10	0.87932	D	0	-7.7578	16.0685	0.80907	0.0:0.0:1.0:0.0	.	38;38;38	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	V	38;38;38;33;38;38	ENSP00000419225:G38V;ENSP00000345680:G38V;ENSP00000362014:G38V;ENSP00000377219:G38V;ENSP00000420045:G38V	ENSP00000345680:G38V	G	+	2	0	DNM1	130005683	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.424000	0.73366	2.116000	0.64780	0.561000	0.74099	GGC			0.692	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054367.1		NM_004408		T	130965862	G	T	130965862	3	4	90	1	0	0	0	0	1	0	0	0	4675	1203	42	2	115	2	DNM1	9	130965862	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	35871381	130965862	10247569	30	6308											
CARD9	64170	mdanderson.org	37	chr9	139262098	139262098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcccaccaggacgagCgtctccagctgctgccgcct	6	5	11	19	3	1	0	0	0	1	0	2	2	1	1	6	2	4	2	6	2	0	0	rs142757984		TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr9:139262098C>T	ENST00000371732.5	-	8	1425	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	CARD9_ENST00000371734.3_Silent_p.T420T|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	420					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCAGGACGAGCGTCTCCAGCT	0.726																																					p.T420T													.	.			0			c.G1260A							C	,	0,4350		0,0,2175	20	20	20		1260,1260	-3.7	0	9	dbSNP_134	20	2,8576		0,2,4287	no	coding-synonymous,coding-synonymous	CARD9	NM_052813.4,NM_052814.3	,	0,2,6462	TT,TC,CC		0.0233,0.0,0.0155	,	420/537,420/493	139262098	2,12926	2175	4289	6464	SO:0001819	synonymous_variant	64170	exon8			GACGAGCGTCTCC	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1260G>A	9.37:g.139262098C>T			17	0	0		30	0.1	3	NM_052813	1	0	0	Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	CCDS6997.1																																																																																			0		0.726	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055053.1		NM_052813		T	139262098	C	T	139262098	2	4	90	1	0	0	0	0	0	0	0	1	2654	755	27	1		1	CARD9	9	139262098	Silent	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	8296236	139262098	1951333	31	6309											
MCM10	55388	mdanderson.org	37	chr10	13240709	13240709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggatgaattggagcctGccaggaaaaaaaggagagaa	17	5	14	5	0	0	3	0	2	0	1	0	8	0	7	2	4	2	0	2	4	5	1			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr10:13240709G>T	ENST00000484800.2	+	16	2246	c.2143G>T	c.(2143-2145)Gcc>Tcc	p.A715S	MCM10_ENST00000378694.1_Missense_Mutation_p.A714S|MCM10_ENST00000378714.3_Missense_Mutation_p.A714S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	715					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						ATTGGAGCCTGCCAGGAAAAA	0.448																																					p.A715S													.	.			0			c.G2143T												103	103	103					10																	13240709		2203	4300	6503	SO:0001583	missense	55388	exon16			GAGCCTGCCAGGA	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.2143G>T	10.37:g.13240709G>T	ENSP00000418268:p.Ala715Ser		43	0	0		29	0.1	3	NM_182751	34	0	0	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356565	0.61293	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.32753	1.44;1.44;1.44	5.13	3.14	0.36123	Replication factor Mcm10 (1);	0.095390	0.64402	D	0.000001	T	0.33847	0.0877	L	0.43152	1.355	0.58432	D	0.999996	B;P;P	0.44139	0.412;0.793;0.827	B;P;P	0.52386	0.214;0.571;0.697	T	0.03403	-1.1040	10	0.28530	T	0.3	-7.6411	8.5052	0.33184	0.074:0.0:0.6727:0.2532	.	714;714;715	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	S	714;715;715;714	ENSP00000367986:A714S;ENSP00000418268:A715S;ENSP00000367966:A714S	ENSP00000354945:A715S	A	+	1	0	MCM10	13280715	1.000000	0.71417	0.972000	0.41901	0.823000	0.46562	3.655000	0.54460	1.300000	0.44818	0.655000	0.94253	GCC			0.448	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000356853.1		NM_182751		T	13240709	G	T	13240709	3	4	90	1	0	0	0	0	1	0	0	0	9401	1319	46	2	2201	2	MCM10	10	13240709	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		13240709	122294038	32	6310											
FRMPD2	143162	mdanderson.org	37	chr10	49409307	49409307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcccagagcccatctGtgcattaaacccatgctggg	9	8	11	13	0	1	1	0	0	1	1	1	1	1	1	3	2	5	3	3	2	2	1			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr10:49409307G>T	ENST00000374201.3	-	15	2220	c.1918C>A	c.(1918-1920)Cag>Aag	p.Q640K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.Q608K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.Q615K	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	640	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)		GAGCCCATCTGTGCATTAAAC	0.418																																					p.Q640K													.	.			0			c.C1918A												104	91	95					10																	49409307		2203	4300	6503	SO:0001583	missense	143162	exon15			CCATCTGTGCATT	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.1918C>A	10.37:g.49409307G>T	ENSP00000363317:p.Gln640Lys		99	0	0		63	0.06	4	NM_001018071	0		0	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310848	0.60414	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.86432	-2.12;-2.12;-2.12	5.16	3.26	0.37387	FERM, C-terminal PH-like domain (1);FERM domain (1);	.	.	.	.	T	0.77850	0.4192	L	0.39245	1.2	0.27926	N	0.938072	B;B;B	0.17038	0.01;0.02;0.01	B;B;B	0.20384	0.006;0.029;0.006	T	0.61227	-0.7105	9	0.02654	T	1	.	8.5451	0.33417	0.0818:0.0:0.7644:0.1538	.	615;640;608	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	K	640;615;608	ENSP00000363317:Q640K;ENSP00000307079:Q615K;ENSP00000384339:Q608K	ENSP00000307079:Q615K	Q	-	1	0	FRMPD2	49079313	1.000000	0.71417	0.006000	0.13384	0.911000	0.54048	4.151000	0.58105	1.310000	0.45006	0.655000	0.94253	CAG			0.418	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047923.3		NM_152428		T	49409307	G	T	49409307	3	4	90	1	0	0	0	0	1	0	0	0	6071	1386	48	3	2071	3	FRMPD2	10	49409307	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	36168598	49409307	86125440	33	6311											
BTRC	8945	broad.mit.edu	37	chr10	103221770	103221770	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagactgtaataatggCgaaccccctaggaagataat	17	7	10	7	1	0	3	0	0	0	3	0	6	0	4	2	2	1	1	2	2	7	4			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr10:103221770C>T	ENST00000370187.3	+	3	307	c.189C>T	c.(187-189)ggC>ggT	p.G63G	BTRC_ENST00000393441.4_Intron|BTRC_ENST00000408038.2_Silent_p.G27G	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	63					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)		GTAATAATGGCGAACCCCCTA	0.353																																					p.G63G													.	BTRC	64		0			c.C189T												95	101	99					10																	103221770		2203	4300	6503	SO:0001819	synonymous_variant	8945	exon3			TAATGGCGAACCC	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.189C>T	10.37:g.103221770C>T			178	0	0		179	0.03	6	NM_033637	82	0	0	B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	CCDS7512.1																																																																																					0.353	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049936.1		NM_033637		T	103221770	C	T	103221770	2	4	90	1	0	0	0	0	0	0	0	1	1571	755	27	1		1	BTRC	10	103221770	Silent	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	53812463	103221770	32312977	34	6312											
PSD	5662	mdanderson.org	37	chr10	104176225	104176225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcccattggggagagAggagtaaaggccatctgctc	10	6	13	12	0	1	1	0	0	1	1	2	4	1	3	4	4	2	2	4	4	2	2			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr10:104176225A>G	ENST00000020673.5	-	2	1097	c.571T>C	c.(571-573)Tct>Cct	p.S191P	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.S191P	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	191					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTGGGGAGAGAGGAGTAAAGG	0.657																																					p.S191P													.	.			0			c.T571C												17	22	20					10																	104176225		2201	4296	6497	SO:0001583	missense	5662	exon3			GGAGAGAGGAGTA	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.571T>C	10.37:g.104176225A>G	ENSP00000020673:p.Ser191Pro		66	0	0		52	0.06	3	NM_001270965	2	0	0	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164838	0.78339	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.19532	2.14;2.14	5.27	5.27	0.74061	.	0.192944	0.36815	N	0.002381	T	0.25717	0.0626	N	0.08118	0	0.36489	D	0.868298	D	0.65815	0.995	D	0.72982	0.979	T	0.42749	-0.9433	10	0.72032	D	0.01	.	12.5792	0.56381	1.0:0.0:0.0:0.0	.	191	A5PKW4	PSD1_HUMAN	P	191;94;191	ENSP00000020673:S191P;ENSP00000384830:S191P	ENSP00000020673:S191P	S	-	1	0	PSD	104166215	0.995000	0.38212	1.000000	0.80357	0.878000	0.50629	1.756000	0.38390	2.006000	0.58801	0.459000	0.35465	TCT			0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050041.2				G	104176225	A	G	104176225	3	3	90	1	0	0	0	0	1	0	0	0	12666	304	11	4	2567	4	PSD	10	104176225	Missense_Mutation	SNP	A	TCGA-SB-A76C-01A-11D-A435-10	954455	104176225	31358522	35	6313											
MUC15	143662	mdanderson.org	37	chr11	26587436	26587436	+	5'UTR	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggtattggtttttttttAaaggaatctgaaagaaaata	14	18	8	1	0	1	2	0	1	1	1	1	3	1	3	0	3	0	2	0	3	8	9			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr11:26587436A>T	ENST00000455601.2	-	0	88				ANO3_ENST00000256737.3_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.F17L|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.F17L|MUC15_ENST00000529533.1_Missense_Mutation_p.F17L|MUC15_ENST00000281268.8_Missense_Mutation_p.F17L|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTTTTTTTTTAAAGGAATCTG	0.294																																					p.F17L													.	.			0			c.T51A												26	26	26					11																	26587436		2147	4255	6402	SO:0001623	5_prime_UTR_variant	143662	exon3			TTTTTTAAAGGAA	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.-31T>A	11.37:g.26587436A>T			63	0	0		45	0.07	3	NM_001135092	0		0	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267158	0.40095	.	.	ENSG00000169550	ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T	0.23147	1.96;1.92;1.96;1.92	4.61	-1.08	0.09936	.	.	.	.	.	T	0.12646	0.0307	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27020	-1.0086	9	0.87932	D	0	.	3.9855	0.09514	0.3753:0.0:0.101:0.5238	.	17;17	F8W945;E9PII6	.;.	L	17	ENSP00000416753:F17L;ENSP00000281268:F17L;ENSP00000431983:F17L;ENSP00000431945:F17L	ENSP00000281268:F17L	F	-	3	2	MUC15	26544012	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.601000	0.24119	0.007000	0.14760	0.454000	0.30748	TTT			0.294	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387866.1		NM_145650		T	26587436	A	T	26587436	1	4	90	0	1	0	0	0	0	0	0	0	9988	359	13	5		5	MUC15	11	26587436	5'UTR	SNP	A	TCGA-SB-A76C-01A-11D-A435-10		26587436	108419080	36	6314											
DAK	26007	mdanderson.org	37	chr11	61113862	61113862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccaccaagaatatggaaGctggagccggaagagccagt	14	4	14	9	1	0	2	0	0	0	2	0	5	0	5	4	4	3	1	4	4	5	1			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr11:61113862G>T	ENST00000394900.3	+	18	1844	c.1615G>T	c.(1615-1617)Gct>Tct	p.A539S	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	539	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GAATATGGAAGCTGGAGCCGG	0.647																																					p.A539S													.	.			0			c.G1615T												65	76	72					11																	61113862		2203	4299	6502	SO:0001583	missense	26007	exon18			ATGGAAGCTGGAG		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1615G>T	11.37:g.61113862G>T	ENSP00000378360:p.Ala539Ser		44	0	0		33	0.09	3	NM_015533	47	0	0	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451387	0.96205	.	.	ENSG00000149476	ENST00000394900	T	0.51071	0.72	5.52	5.52	0.82312	Dak phosphatase (3);	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81219	-0.1032	10	0.72032	D	0.01	-12.5849	17.6186	0.88074	0.0:0.0:1.0:0.0	.	539	Q3LXA3	DHAK_HUMAN	S	539	ENSP00000378360:A539S	ENSP00000378360:A539S	A	+	1	0	DAK	60870438	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.861000	0.92277	2.606000	0.88127	0.561000	0.74099	GCT			0.647	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394425.4		NM_015533		T	61113862	G	T	61113862	3	4	90	1	0	0	0	0	1	0	0	0	4230	971	34	2	1681	2	DAK	11	61113862	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	34526426	61113862	73892654	37	6315											
SSH3	54961	mdanderson.org	37	chr11	67074580	67074580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgtacttagatggaGacgggtaagcaatggcaact	12	8	13	8	1	0	2	0	0	0	2	0	3	0	2	1	4	3	4	1	4	5	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr11:67074580G>T	ENST00000308127.4	+	5	710	c.532G>T	c.(532-534)Gac>Tac	p.D178Y	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.D178Y|SSH3_ENST00000376757.5_Missense_Mutation_p.D178Y	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	178					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)			CTTAGATGGAGACGGGTAAGC	0.602																																					p.D178Y													.	.			0			c.G532T												65	67	67					11																	67074580		2200	4295	6495	SO:0001583	missense	54961	exon5			GATGGAGACGGGT	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.532G>T	11.37:g.67074580G>T	ENSP00000312081:p.Asp178Tyr		26	0	0		27	0.11	3	NM_017857	2	0	0	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.391261	0.82902	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.51817	0.69;0.69;0.69	4.76	4.76	0.60689	.	0.650380	0.12894	N	0.430350	T	0.70736	0.3258	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.963	T	0.72130	-0.4383	10	0.72032	D	0.01	-17.3302	15.5729	0.76354	0.0:0.0:1.0:0.0	.	32;178	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Y	178	ENSP00000312081:D178Y;ENSP00000310055:D178Y;ENSP00000365948:D178Y	ENSP00000312081:D178Y	D	+	1	0	SSH3	66831156	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	9.363000	0.97131	2.174000	0.68829	0.651000	0.88453	GAC			0.602	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393167.1		NM_018276		T	67074580	G	T	67074580	3	4	90	1	0	0	0	0	1	0	0	0	15209	942	33	3	550	3	SSH3	11	67074580	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	5960718	67074580	67931936	38	6316											
C11orf67	28971	broad.mit.edu	37	chr11	77580816	77580816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaggaagttgttgagaagGgtgtacagactcttgtgatt	11	13	14	3	0	1	4	0	3	1	2	1	6	1	5	0	2	1	3	0	2	4	5			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr11:77580816G>T	ENST00000526415.1	+	4	354	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	AAMDC_ENST00000393427.2_Missense_Mutation_p.G61C|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000532481.1_Missense_Mutation_p.G61C|AAMDC_ENST00000525034.1_Missense_Mutation_p.G80C|AAMDC_ENST00000527134.1_Missense_Mutation_p.G61C|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000533193.1_Missense_Mutation_p.G107C|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000304716.8_Missense_Mutation_p.G61C			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	61	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											TGTTGAGAAGGGTGTACAGAC	0.512																																					p.G61C													.	.			0			c.G181T												353	327	336					11																	77580816		2200	4292	6492	SO:0001583	missense	28971	exon3			GAGAAGGGTGTAC	BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 67"	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.181G>T	11.37:g.77580816G>T	ENSP00000431808:p.Gly61Cys		215	0	0		150	0.03	5	NM_024684	68	0	0	Q96AQ4|Q9Y6B1	Missense_Mutation	SNP	ENST00000526415.1	37	CCDS8254.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841582	0.91197	.	.	ENSG00000087884	ENST00000532481;ENST00000526415;ENST00000393427;ENST00000527134;ENST00000304716;ENST00000533193;ENST00000525034	T;T;T;T;T;T;T	0.77229	-1.08;0.84;0.84;0.84;0.84;0.84;0.84	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.88062	0.6336	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.999	D	0.88331	0.2968	10	0.87932	D	0	-12.6787	19.2713	0.94011	0.0:0.0:1.0:0.0	.	61;61;61	E9PLK9;Q9H7C9;Q9H7C9-3	.;CK067_HUMAN;.	C	61;61;61;61;61;107;80	ENSP00000433293:G61C;ENSP00000431808:G61C;ENSP00000377078:G61C;ENSP00000433281:G61C;ENSP00000307254:G61C;ENSP00000436086:G107C;ENSP00000432830:G80C	ENSP00000307254:G61C	G	+	1	0	C11orf67	77258464	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.234000	0.89801	2.890000	0.99128	0.650000	0.86243	GGT			0.512	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390976.1		NM_024684		T	77580816	G	T	77580816	3	4	90	1	0	0	0	0	1	0	0	0	1659	1232	43	3	187	3	C11orf67	11	77580816	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	10506236	77580816	57425700	39	6317											
FAT3	120114	mdanderson.org	37	chr11	92577510	92577510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaatgtgtcccctgaGgacttcgtggggctgcacat	8	12	12	9	1	0	2	0	2	0	0	2	3	1	3	2	3	1	2	2	3	2	2			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr11:92577510G>T	ENST00000298047.6	+	18	10994	c.10977G>T	c.(10975-10977)gaG>gaT	p.E3659D	FAT3_ENST00000409404.2_Missense_Mutation_p.E3659D|FAT3_ENST00000525166.1_Missense_Mutation_p.E3509D|FAT3_ENST00000533797.1_5'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3659					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)				TGTCCCCTGAGGACTTCGTGG	0.582										TCGA Ovarian(4;0.039)																											p.E3659D													.	.			0			c.G10977T												63	67	66					11																	92577510		2130	4256	6386	SO:0001583	missense	120114	exon18			CCCTGAGGACTTC	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.10977G>T	11.37:g.92577510G>T	ENSP00000298047:p.Glu3659Asp		98	0	0		32	0.09	3	NM_001008781	0		0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	18.91	3.723517	0.68959	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.08807	3.05;3.05;3.05	5.94	5.94	0.96194	.	.	.	.	.	T	0.15825	0.0381	M	0.62016	1.91	0.80722	D	1	D;P	0.53151	0.958;0.643	P;B	0.51777	0.679;0.318	T	0.00160	-1.1973	9	0.66056	D	0.02	.	7.8014	0.29176	0.1887:0.0:0.8113:0.0	.	3659;3659	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	D	3659;3659;3509	ENSP00000298047:E3659D;ENSP00000387040:E3659D;ENSP00000432586:E3509D	ENSP00000298047:E3659D	E	+	3	2	FAT3	92217158	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.566000	0.23593	2.816000	0.96949	0.561000	0.74099	GAG			0.582	FAT3-201	KNOWN	basic	protein_coding	protein_coding				NM_001008781		T	92577510	G	T	92577510	3	4	90	1	0	0	0	0	1	0	0	0	5704	991	35	3	11047	3	FAT3	11	92577510	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	14996694	92577510	42429006	40	6318											
GRIA4	2893	mdanderson.org	37	chr11	105481779	105481779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggattttggggactcGccatgggagcctttccgagc	5	13	13	10	2	1	0	0	0	1	0	3	4	2	3	3	4	2	0	3	4	0	4			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr11:105481779G>T	ENST00000530497.1	+	1	55	c.55G>T	c.(55-57)Gcc>Tcc	p.A19S	GRIA4_ENST00000393125.2_Missense_Mutation_p.A19S|GRIA4_ENST00000527669.1_Missense_Mutation_p.A19S|GRIA4_ENST00000525187.1_Missense_Mutation_p.A19S|GRIA4_ENST00000282499.5_Missense_Mutation_p.A19S|GRIA4_ENST00000428631.2_Missense_Mutation_p.A19S|GRIA4_ENST00000393127.2_Missense_Mutation_p.A19S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	19					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)		TTGGGGACTCGCCATGGGAGC	0.498																																					p.A19S													GRIA4_ENST00000393127,NS,carcinoma,0,3	GRIA4_ENST00000393127	0	3	0			c.G55T												128	117	121					11																	105481779		2202	4299	6501	SO:0001583	missense	2893	exon2			GGACTCGCCATGG	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.55G>T	11.37:g.105481779G>T	ENSP00000435775:p.Ala19Ser		142	0.0070422535	1		60	0.05	3	NM_001077243	0		0	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047775	0.36085	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.18810	2.19;2.78;2.62;2.19;2.78;2.62	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000035	T	0.15435	0.0372	N	0.21373	0.66	0.50632	D	0.999887	B;B;B;B;B	0.27013	0.005;0.004;0.006;0.008;0.166	B;B;B;B;B	0.23275	0.006;0.015;0.007;0.012;0.045	T	0.07888	-1.0749	10	0.15499	T	0.54	.	18.6535	0.91440	0.0:0.0:1.0:0.0	.	19;19;49;19;19	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	S	19	ENSP00000376833:A19S;ENSP00000282499:A19S;ENSP00000376835:A19S;ENSP00000415551:A19S;ENSP00000435775:A19S;ENSP00000432180:A19S	ENSP00000282499:A19S	A	+	1	0	GRIA4	104986989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.735000	0.68587	2.710000	0.92621	0.563000	0.77884	GCC			0.498	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000388593.1				T	105481779	G	T	105481779	3	4	90	1	0	0	0	0	1	0	0	0	6785	1087	38	1	57	1	GRIA4	11	105481779	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	12904269	105481779	29524737	41	6319											
KRAS	3845	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	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)																											p.G12A	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,NS,adenocarcinoma,0,25136	KRAS	30930	25136	15813	Substitution - Missense(15812)|Deletion - Frameshift(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)	c.G35C												91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	exon2	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	ACGCCACCAGCTC	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>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala		279	0	0		361	0.03	10	NM_004985	54	0	0	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	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		G	25398284	C	G	25398284	3	3	90	1	0	0	0	0	1	0	0	0	8453	507	18	5	671	5	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10		25398284	108453611	42	6320											
SOAT2	8435	mdanderson.org	37	chr12	53497424	53497424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggaggggagcgggaGcgccaaccctgtggagatgg	7	4	22	8	2	0	1	0	0	0	1	0	5	0	4	2	7	3	1	2	7	1	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr12:53497424G>T	ENST00000301466.3	+	1	123	c.63G>T	c.(61-63)gaG>gaT	p.E21D		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	21					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GGGAGCGGGAGCGCCAACCCT	0.701																																					p.E21D													.	.			0			c.G63T												12	15	14					12																	53497424		1835	3499	5334	SO:0001583	missense	8435	exon1			GCGGGAGCGCCAA	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.63G>T	12.37:g.53497424G>T	ENSP00000301466:p.Glu21Asp		25	0	0		27	0.11	3	NM_003578	0		0	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614165	0.28712	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.54279	0.58;1.85	4.76	1.9	0.25705	.	0.762691	0.11662	N	0.541747	T	0.47284	0.1437	M	0.63428	1.95	0.09310	N	1	B	0.29766	0.256	B	0.24701	0.055	T	0.38243	-0.9670	10	0.52906	T	0.07	-21.3241	9.1162	0.36760	0.2655:0.0:0.7345:0.0	.	21	O75908	SOAT2_HUMAN	D	21	ENSP00000450120:E21D;ENSP00000301466:E21D	ENSP00000301466:E21D	E	+	3	2	SOAT2	51783691	0.001000	0.12720	0.014000	0.15608	0.008000	0.06430	0.178000	0.16820	0.329000	0.23460	-1.119000	0.02030	GAG			0.701	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405817.1				T	53497424	G	T	53497424	3	4	90	1	0	0	0	0	1	0	0	0	14934	962	34	2	65	2	SOAT2	12	53497424	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	28099140	53497424	80354471	43	6321											
SLC24A6	80024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	113770646	113770646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagcacacaaagcacaCtcagtgcccagcgcagattc	13	6	8	14	1	1	1	1	0	0	1	2	1	1	1	1	0	5	4	1	0	2	2			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr12:113770646C>T	ENST00000552014.1	-	3	553	c.38G>A	c.(37-39)aGt>aAt	p.S13N	SLC8B1_ENST00000546737.1_Missense_Mutation_p.S13N|SLC8B1_ENST00000202831.3_Missense_Mutation_p.S13N|SLC8B1_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	13					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)										ACAAAGCACACTCAGTGCCCA	0.582																																					p.S13N													.	.			0			c.G38A												70	65	67					12																	113770646		2203	4300	6503	SO:0001583	missense	80024	exon2			AGCACACTCAGTG	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.38G>A	12.37:g.113770646C>T	ENSP00000447091:p.Ser13Asn		80	0	0		69	0.29	20	NM_024959	48	0.27	13	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	C	4.308	0.056538	0.08291	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737;ENST00000549181;ENST00000548186;ENST00000549372	T;T;T;T	0.60171	0.21;0.21;0.21;1.89	2.51	0.514	0.17007	.	0.759158	0.10670	U	0.647657	T	0.40040	0.1101	L	0.36672	1.1	0.09310	N	1	B	0.23650	0.089	B	0.17098	0.017	T	0.21449	-1.0245	10	0.20046	T	0.44	.	4.9269	0.13898	0.2432:0.5197:0.2372:0.0	.	13	Q6J4K2	NCKX6_HUMAN	N	13	ENSP00000447091:S13N;ENSP00000202831:S13N;ENSP00000450081:S13N;ENSP00000448703:S13N	ENSP00000202831:S13N	S	-	2	0	SLC24A6	112255029	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.453000	0.21811	0.124000	0.18369	-0.499000	0.04595	AGT			0.582	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404830.3		NM_024959		T	113770646	C	T	113770646	3	4	90	1	0	0	0	0	1	0	0	0	14493	565	20	3	1776	3	SLC24A6	12	113770646	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	60273222	113770646	20081249	44	6322											
TPTE2	93492	bcgsc.ca	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	17	10	5	9	1	1	0	0	0	1	0	2	1	1	1	2	1	3	1	2	1	8	6	rs201542496		TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					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)		CGTTCTAACATACTTTAGCCA	0.313																																					p.M41V													.	TPTE2	225		0			c.A121G												47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492	exon5			CTAACATACTTTA	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.120-1A>G	13.37:g.20056686T>C			688	0.0087209302	6		510	0.03	15	NM_199254	2	0	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG			0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_199254	Missense_Mutation	C	20056686	T	C	20056686	5	2	90	1	0	0	0	0	0	0	1	0	16455	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-SB-A76C-01A-11D-A435-10		20056686	95113192	45	6323											
ATP11A	23250	mdanderson.org	37	chr13	113526062	113526062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacagatatttggaaactGgacgtttggaacgctggtat	13	11	11	6	2	0	1	0	0	0	1	0	4	0	4	0	4	3	3	0	4	5	4			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr13:113526062G>T	ENST00000487903.1	+	26	3093	c.3005G>T	c.(3004-3006)tGg>tTg	p.W1002L	ATP11A_ENST00000375645.3_Missense_Mutation_p.W1002L|ATP11A_ENST00000375630.2_Missense_Mutation_p.W1002L|ATP11A_ENST00000283558.8_Missense_Mutation_p.W1002L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1002					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)				TTTGGAAACTGGACGTTTGGA	0.423																																					p.W1002L													.	.			0			c.G3005T												162	162	162					13																	113526062		2203	4300	6503	SO:0001583	missense	23250	exon26			GAAACTGGACGTT	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.3005G>T	13.37:g.113526062G>T	ENSP00000420387:p.Trp1002Leu		107	0	0		49	0.06	3	NM_032189	9	0	0	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983056	0.53827	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.15	4.15	0.48705	.	0.064020	0.64402	D	0.000002	T	0.41581	0.1165	L	0.51422	1.61	0.80722	D	1	B;B	0.32829	0.386;0.344	B;B	0.37267	0.175;0.245	T	0.30937	-0.9961	10	0.25751	T	0.34	.	16.8014	0.85615	0.0:0.0:1.0:0.0	.	1002;1002	E9PEJ6;P98196	.;AT11A_HUMAN	L	1002	ENSP00000420387:W1002L;ENSP00000364781:W1002L;ENSP00000364796:W1002L;ENSP00000283558:W1002L	ENSP00000283558:W1002L	W	+	2	0	ATP11A	112574063	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	8.935000	0.92923	2.002000	0.58637	0.462000	0.41574	TGG			0.423	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000045834.3		NM_015205		T	113526062	G	T	113526062	3	4	90	1	0	0	0	0	1	0	0	0	1119	1357	47	3	3107	3	ATP11A	13	113526062	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	93469376	113526062	1643816	46	6324											
ZFYVE21	79038	mdanderson.org	37	chr14	104182264	104182264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catggtgcccgaacaccgcgCcttcggaagcccgttcggcc	6	6	12	17	6	0	0	0	0	0	0	2	2	0	1	5	3	3	1	5	3	2	2			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr14:104182264C>T	ENST00000311141.2	+	1	120	c.86C>T	c.(85-87)gCc>gTc	p.A29V	XRCC3_ENST00000352127.7_5'Flank|XRCC3_ENST00000554974.1_5'Flank|XRCC3_ENST00000445556.1_5'Flank|XRCC3_ENST00000555055.1_5'Flank|RP11-73M18.9_ENST00000602383.1_lincRNA|ZFYVE21_ENST00000216602.6_Missense_Mutation_p.A29V|XRCC3_ENST00000554913.1_5'Flank	NM_024071.3	NP_076976.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	29						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		GAACACCGCGCCTTCGGAAGC	0.761																																					p.A29V													.	.			0			c.C86T												5	6	6					14																	104182264		1983	3930	5913	SO:0001583	missense	79038	exon1			ACCGCGCCTTCGG	AK057816	CCDS9985.1, CCDS55948.1	14q32.33	2011-09-07						"Zinc fingers, FYVE domain containing"	20760	protein-coding gene	gene with protein product		613504				21768110	Standard	NM_024071		Approved	MGC2550, ZF21	uc001yod.3	Q9BQ24		ENST00000311141.2:c.86C>T	14.37:g.104182264C>T	ENSP00000310543:p.Ala29Val		27	0	0		19	0.16	3	NM_024071	369	0	0	A8K3A4|Q86T05|Q96LT1	Missense_Mutation	SNP	ENST00000311141.2	37	CCDS9985.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.269181	0.80469	.	.	ENSG00000100711	ENST00000216602;ENST00000311141	T;T	0.73681	-0.77;-0.76	3.37	3.37	0.38596	.	0.221403	0.37012	U	0.002285	T	0.74581	0.3735	L	0.29908	0.895	0.46521	D	0.999085	D;D	0.59767	0.982;0.986	P;P	0.58331	0.837;0.722	T	0.75048	-0.3455	10	0.37606	T	0.19	-1.0786	14.9747	0.71261	0.0:1.0:0.0:0.0	.	29;29	Q9BQ24-2;Q9BQ24	.;ZFY21_HUMAN	V	29	ENSP00000216602:A29V;ENSP00000310543:A29V	ENSP00000216602:A29V	A	+	2	0	ZFYVE21	103252017	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.854000	0.62918	1.744000	0.51775	0.580000	0.79431	GCC			0.761	ZFYVE21-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000414616.1		NM_024071		T	104182264	C	T	104182264	3	4	90	1	0	0	0	0	1	0	0	0	17690	739	26	2	88	2	ZFYVE21	14	104182264	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10		104182264	3167276	47	6325											
ELL3	80237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	44066684	44066684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaactcacaggaggtagtCtggtatatcttcaggacttg	11	11	12	7	0	4	0	2	0	2	0	4	3	4	3	0	5	1	2	0	5	4	5			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr15:44066684C>T	ENST00000319359.3	-	8	1497	c.856G>A	c.(856-858)Gac>Aac	p.D286N	ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	286					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		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)		AGGAGGTAGTCTGGTATATCT	0.413																																					p.D286N													.	.			0			c.G856A												129	136	134					15																	44066684		2198	4298	6496	SO:0001583	missense	80237	exon8			GGTAGTCTGGTAT	AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.856G>A	15.37:g.44066684C>T	ENSP00000320346:p.Asp286Asn		175	0	0		168	0.23	38	NM_025165	3	0	0	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	37	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253826	0.59212	.	.	ENSG00000128886	ENST00000319359	T	0.47177	0.85	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000005	T	0.70360	0.3215	M	0.81682	2.555	0.50813	D	0.999896	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.73398	-0.3995	10	0.72032	D	0.01	-20.0611	15.5166	0.75830	0.0:1.0:0.0:0.0	.	286;286;240	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	N	286	ENSP00000320346:D286N	ENSP00000320346:D286N	D	-	1	0	ELL3	41853976	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	3.549000	0.53681	2.740000	0.93945	0.455000	0.32223	GAC			0.413	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000133236.2		NM_025165		T	44066684	C	T	44066684	3	4	90	1	0	0	0	0	1	0	0	0	5071	913	32	3	353	3	ELL3	15	44066684	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10		44066684	58464708	48	6326											
ISLR2	57611	mdanderson.org	37	chr15	74426776	74426776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttccgcggcctgcggccgGgtaccaactactccgtgtgc	4	8	14	15	5	0	0	0	0	0	0	2	0	2	0	5	4	5	2	5	4	3	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr15:74426776G>T	ENST00000361742.3	+	4	2450	c.1681G>T	c.(1681-1683)Ggt>Tgt	p.G561C	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.G561C|ISLR2_ENST00000419208.1_Missense_Mutation_p.G561C|ISLR2_ENST00000565159.1_Missense_Mutation_p.G561C|ISLR2_ENST00000445793.1_Missense_Mutation_p.G561C|ISLR2_ENST00000565540.1_Missense_Mutation_p.G561C|ISLR2_ENST00000435464.1_Missense_Mutation_p.G561C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	561					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCTGCGGCCGGGTACCAACTA	0.657																																					p.G561C													.	.			0			c.G1681T												11	14	13					15																	74426776		2139	4202	6341	SO:0001583	missense	57611	exon4			CGGCCGGGTACCA		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1681G>T	15.37:g.74426776G>T	ENSP00000355402:p.Gly561Cys		64	0	0		56	0.07	4	NM_001130136	1	0	0	A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858943	0.71834	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01988	-1.1234	10	0.87932	D	0	.	16.4299	0.83839	0.0:0.0:1.0:0.0	.	561	Q6UXK2	ISLR2_HUMAN	C	561	ENSP00000403244:G561C;ENSP00000355402:G561C;ENSP00000411443:G561C;ENSP00000411834:G561C;ENSP00000408872:G561C	ENSP00000355402:G561C	G	+	1	0	ISLR2	72213829	1.000000	0.71417	0.980000	0.43619	0.769000	0.43574	9.387000	0.97232	2.166000	0.68216	0.313000	0.20887	GGT			0.657	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269046.1		NM_020851		T	74426776	G	T	74426776	3	4	90	1	0	0	0	0	1	0	0	0	7874	1232	43	3	1683	3	ISLR2	15	74426776	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	30360092	74426776	28104616	49	6327											
WDR90	197335	mdanderson.org	37	chr16	717445	717445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccacagagtgcatgctgagGctggtagactgtgccatggg	8	8	15	10	0	0	3	0	1	0	2	0	3	0	3	2	3	3	4	2	3	1	1			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr16:717445G>T	ENST00000293879.4	+	41	5103	c.5103G>T	c.(5101-5103)agG>agT	p.R1701S	RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000547944.1_Missense_Mutation_p.R300S|WDR90_ENST00000315764.4_Missense_Mutation_p.R252S|WDR90_ENST00000549091.1_Missense_Mutation_p.R1703S			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1701										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCATGCTGAGGCTGGTAGACT	0.647																																					p.R1701S													.	.			0			c.G5103T												43	51	49					16																	717445		2131	4218	6349	SO:0001583	missense	197335	exon41			GCTGAGGCTGGTA	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.5103G>T	16.37:g.717445G>T	ENSP00000293879:p.Arg1701Ser		62	0	0		43	0.07	3	NM_145294	19	0	0	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449367	0.26074	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.67523	3.39;1.32;-0.27;1.47	5.14	0.501	0.16925	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.068282	0.53938	U	0.000049	T	0.55305	0.1912	M	0.80616	2.505	0.38230	D	0.94101	B;B;P	0.36874	0.218;0.019;0.572	B;B;B	0.26202	0.067;0.018;0.052	T	0.52487	-0.8569	10	0.51188	T	0.08	.	2.8273	0.05489	0.1569:0.3124:0.4025:0.1283	.	252;300;1701	Q96KV7-7;G3V201;Q96KV7	.;.;WDR90_HUMAN	S	1703;1701;300;252	ENSP00000448122:R1703S;ENSP00000293879:R1701S;ENSP00000449576:R300S;ENSP00000322808:R252S	ENSP00000293879:R1701S	R	+	3	2	WDR90	657446	0.972000	0.33761	0.614000	0.29051	0.134000	0.20937	0.730000	0.26043	0.111000	0.17947	0.609000	0.83330	AGG			0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000404335.1		NM_145294		T	717445	G	T	717445	3	4	90	1	0	0	0	0	1	0	0	0	17361	1194	42	2	5265	2	WDR90	16	717445	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		717445	89637308	50	6328											
ZSCAN10	84891	mdanderson.org	37	chr16	3142569	3142569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgtggctgggctcccGgtggatgccctcgagcagca	4	6	15	16	4	0	0	0	0	0	0	2	2	1	1	4	4	3	4	4	4	0	0	rs543656828		TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr16:3142569G>A	ENST00000252463.2	-	1	292	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P76L|ZSCAN10_ENST00000572548.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	69	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTGGGCTCCCGGTGGATGCCC	0.697																																					p.R69W													.	.			0			c.C205T																																									SO:0001583	missense	84891	exon1			GCTCCCGGTGGAT	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.205C>T	16.37:g.3142569G>A	ENSP00000252463:p.Arg69Trp		38	0.0263157895	1		19	0.11	2	NM_032805	15	0	0	B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	CCDS10493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.34|17.34	3.364932|3.364932	0.61513|0.61513	.|.	.|.	ENSG00000130182|ENSG00000130182	ENST00000538082|ENST00000252463	T|T	0.08546|0.04862	3.08|3.54	5.4|5.4	-1.2|-1.2	0.09554|0.09554	.|Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.|0.601756	.|0.15793	.|N	.|0.244380	T|T	0.10165|0.10165	0.0249|0.0249	M|M	0.82323|0.82323	2.585|2.585	0.09310|0.09310	N|N	1|1	B|P	0.27853|0.48640	0.191|0.913	B|B	0.15052|0.43990	0.012|0.438	T|T	0.10474|0.10474	-1.0628|-1.0628	9|10	0.34782|0.87932	T|D	0.22|0	-9.78|-9.78	4.9072|4.9072	0.13804|0.13804	0.0:0.2782:0.3075:0.4143|0.0:0.2782:0.3075:0.4143	.|.	91|69	Q1WWM2|Q96SZ4	.|ZSC10_HUMAN	L|W	91|69	ENSP00000440047:P91L|ENSP00000252463:R69W	ENSP00000440047:P91L|ENSP00000252463:R69W	P|R	-|-	2|1	0|2	ZSCAN10|ZSCAN10	3082570|3082570	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	-1.329000|-1.329000	0.02677|0.02677	-0.195000|-0.195000	0.10382|0.10382	-0.397000|-0.397000	0.06425|0.06425	CCG|CGG			0.697	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437124.2		NM_032805		A	3142569	G	A	3142569	3	1	90	1	0	0	0	0	1	0	0	0	18250	1115	39	1	1992	1	ZSCAN10	16	3142569	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	2425124	3142569	87212184	51	6329											
FUS	2521	broad.mit.edu;bcgsc.ca	37	chr16	31202397	31202398	+	Frame_Shift_Del	DEL	AG	AG	-																															ggggccggggtggtggggacAgaggtggctttggccctggc																								rs10684		TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr16:31202397_31202398delAG	ENST00000254108.7	+	14	1612_1613	c.1507_1508delAG	c.(1507-1509)agafs	p.R503fs	FUS_ENST00000568685.1_Frame_Shift_Del_p.R504fs|FUS_ENST00000380244.3_Frame_Shift_Del_p.R502fs|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	503	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGGTGGGGACAGAGGTGGCTTT	0.579			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																p.503_503del				Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	.	FUS	52		0			c.1507_1508del																																									SO:0001589	frameshift_variant	2521	exon14			GGGGACAGAGGTG	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1507_1508delAG	16.37:g.31202399_31202400delAG	ENSP00000254108:p.Arg503fs		60	0	0		34	0.26	9	NM_004960	100	0	0	Q9H4A8	Frame_Shift_Del	DEL	ENST00000254108.7	37	CCDS10707.1																																																																																					0.579	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255526.2		NM_004960		-	31202398	AG	-	31202397	7	5	90	1	0	1	0	1	0	0	0	0	6113	180	7	0	1561	0	FUS	16	31202397	Frame_Shift_Del	DEL	AG	TCGA-SB-A76C-01A-11D-A435-10	28059828	31202397	59152356	52	6330											
TGFB1I1	7041	mdanderson.org	37	chr16	31484834	31484834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccaaagagcgccctgCggagcctctcacccctcccc	6	5	9	21	2	1	1	1	0	1	1	4	2	3	2	7	2	3	1	7	2	1	0	rs142826505	byFrequency	TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr16:31484834C>T	ENST00000394863.3	+	2	216	c.86C>T	c.(85-87)gCg>gTg	p.A29V	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A12V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A12V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A12V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	29	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|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, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GAGCGCCCTGCGGAGCCTCTC	0.642																																					p.A29V													.	.			0			c.C86T							C	VAL/ALA,VAL/ALA,VAL/ALA	2,4392	4.2+/-10.8	0,2,2195	40	46	44		86,35,35	3.4	1	16	dbSNP_134	44	0,8600		0,0,4300	no	missense,missense,missense	TGFB1I1	NM_001042454.2,NM_001164719.1,NM_015927.4	64,64,64	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	benign,benign,benign	29/462,12/445,12/445	31484834	2,12992	2197	4300	6497	SO:0001583	missense	7041	exon2			GCCCTGCGGAGCC	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.86C>T	16.37:g.31484834C>T	ENSP00000378332:p.Ala29Val		59	0	0		39	0.08	3	NM_001042454	18	0	0	B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319253	0.23994	4.55E-4	0.0	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.55588	0.51;0.53;0.53	4.43	3.41	0.39046	.	0.213488	0.38959	N	0.001512	T	0.32526	0.0832	N	0.14661	0.345	0.19300	N	0.999972	B	0.13145	0.007	B	0.04013	0.001	T	0.13229	-1.0517	10	0.29301	T	0.29	.	11.3196	0.49412	0.193:0.807:0.0:0.0	.	29	O43294	TGFI1_HUMAN	V	29;12;12	ENSP00000378332:A29V;ENSP00000355117:A12V;ENSP00000378327:A12V	ENSP00000355117:A12V	A	+	2	0	TGFB1I1	31392335	0.001000	0.12720	0.955000	0.39395	0.165000	0.22458	1.293000	0.33353	2.289000	0.77006	0.484000	0.47621	GCG	0		0.642	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255630.3				T	31484834	C	T	31484834	3	4	90	1	0	0	0	0	1	0	0	0	15840	768	27	1	92	1	TGFB1I1	16	31484834	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	282437	31484834	58869919	53	6331											
CDH16	1014	mdanderson.org	37	chr16	66949135	66949135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttacccttggggctgaGggccagagcccccagccgag	6	5	16	14	1	0	2	0	1	0	1	0	3	0	2	5	4	3	2	5	4	1	2	rs2271024	byFrequency	TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr16:66949135G>T	ENST00000299752.4	-	6	764	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	CDH16_ENST00000394055.3_Missense_Mutation_p.L191I|CDH16_ENST00000565796.1_Missense_Mutation_p.L191I|CDH16_ENST00000570262.1_Missense_Mutation_p.L111I|CDH16_ENST00000568632.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		L -> F (in dbSNP:rs2271024).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TTGGGGCTGAGGGCCAGAGCC	0.617																																					p.L191I													.	.			0			c.C571A												30	35	33					16																	66949135		2199	4298	6497	SO:0001583	missense	1014	exon6			GGCTGAGGGCCAG	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.571C>A	16.37:g.66949135G>T	ENSP00000299752:p.Leu191Ile		44	0	0		31	0.1	3	NM_004062	0		0	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373568	0.42105	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53206	0.63;0.63	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000009	T	0.64972	0.2647	M	0.62209	1.925	0.54753	D	0.999981	D;D	0.89917	0.999;1.0	D;D	0.91635	0.983;0.999	T	0.65228	-0.6219	10	0.48119	T	0.1	-16.4267	14.0719	0.64865	0.0:0.0:1.0:0.0	.	191;191	O75309-2;O75309	.;CAD16_HUMAN	I	191;191;155	ENSP00000377619:L191I;ENSP00000299752:L191I	ENSP00000299752:L191I	L	-	1	0	CDH16	65506636	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	3.834000	0.55798	2.382000	0.81193	0.563000	0.77884	CTC			0.617	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268839.2		NM_004062		T	66949135	G	T	66949135	3	4	90	1	0	0	0	0	1	0	0	0	3103	1000	35	3	1970	3	CDH16	16	66949135	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	35464301	66949135	23405618	54	6332											
FBXO31	79791	mdanderson.org	37	chr16	87369022	87369022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgatgaggtcgtcggggCggctgggcggcaggtagatg	5	8	21	7	4	0	3	0	2	0	1	2	3	0	3	0	7	0	4	0	7	1	2			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr16:87369022C>T	ENST00000311635.7	-	7	896	c.884G>A	c.(883-885)cGc>cAc	p.R295H	RP11-178L8.4_ENST00000568879.1_5'Flank	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	295					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GTCGTCGGGGCGGCTGGGCGG	0.657																																					p.R295H													FBXO31_ENST00000311635,NS,carcinoma,-1,2	FBXO31_ENST00000311635	-1	2	0			c.G884A												68	55	59					16																	87369022		2196	4300	6496	SO:0001583	missense	79791	exon7			TCGGGGCGGCTGG	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.884G>A	16.37:g.87369022C>T	ENSP00000310841:p.Arg295His		112	0	0		43	0.07	3	NM_024735	63	0	0	Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.700041	0.00725	.	.	ENSG00000103264	ENST00000311635	.	.	.	5.07	-5.63	0.02474	.	1.400130	0.03938	N	0.286340	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.22906	-1.0203	9	0.18276	T	0.48	-13.7884	15.0251	0.71663	0.0:0.6498:0.0:0.3502	.	295;187	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	H	295	.	ENSP00000310841:R295H	R	-	2	0	FBXO31	85926523	0.000000	0.05858	0.781000	0.31783	0.006000	0.05464	-1.503000	0.02277	-1.028000	0.03321	-1.049000	0.02347	CGC			0.657	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430799.2		NM_024735		T	87369022	C	T	87369022	3	4	90	1	0	0	0	0	1	0	0	0	5754	768	27	1	747	1	FBXO31	16	87369022	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	20419887	87369022	2985731	55	6333											
SGK494	9703	mdanderson.org	37	chr17	26941125	26941125	+	IGR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgagggacagccacccGggtgtgttccccctgctggg	4	9	15	13	1	0	1	0	1	0	0	1	2	1	2	4	3	2	2	4	3	0	2	rs143987420		TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr17:26941125G>T	ENST00000528896.2	-	0	7407				SGK494_ENST00000469832.3_5'UTR|SGK494_ENST00000301037.5_Silent_p.R19R|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_Silent_p.R19R|RP11-192H23.4_ENST00000534850.1_Silent_p.R19R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACAGCCACCCGGGTGTGTTCC	0.612																																					p.R19R													.	.			0			c.C55A												67	62	64					17																	26941125		2203	4300	6503	SO:0001628	intergenic_variant	0	exon1			CCACCCGGGTGTG	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26941125G>T			48	0	0		33	0.09	3	NM_001174103	41	0	0	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	CCDS32595.1																																																																																					0.612	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390571.3		NM_014680		T	26941125	G	T	26941125	1	4	90	0	1	0	0	0	0	0	0	0	14236	1115	39	1		1	SGK494	17	26941125	IGR	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		26941125	54254085	56	6334											
TTYH2	94015	mdanderson.org	37	chr17	72218737	72218737	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacgatgcggtgcagacCaagcagcaccactcctgctg	9	5	13	14	3	0	1	0	0	0	1	1	3	1	2	3	2	5	4	3	2	1	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr17:72218737C>A	ENST00000269346.4	+	2	317	c.243C>A	c.(241-243)acC>acA	p.T81T	TTYH2_ENST00000529107.1_Silent_p.T60T	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	81						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CGGTGCAGACCAAGCAGCACC	0.657																																					p.T81T													.	.			0			c.C243A												87	70	75					17																	72218737		2203	4300	6503	SO:0001819	synonymous_variant	94015	exon2			GCAGACCAAGCAG		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.243C>A	17.37:g.72218737C>A			48	0	0		37	0.08	3	NM_032646	16	0	0	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																					0.657	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000387459.1				A	72218737	C	A	72218737	2	1	90	1	0	0	0	0	0	0	0	1	16764	581	21	3		3	TTYH2	17	72218737	Silent	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	45277612	72218737	8976473	57	6335											
KCTD2	23510	mdanderson.org	37	chr17	73043556	73043556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcagggggcggcggcgcgGcccgctgggtcaggctgaac	4	3	22	12	5	1	1	1	1	0	0	1	1	1	1	1	8	1	3	1	8	1	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr17:73043556G>A	ENST00000322444.6	+	1	217	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	ATP5H_ENST00000344546.4_5'Flank|ATP5H_ENST00000301587.4_5'Flank|KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	71					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					cggcggcgcggcccgcTGGGT	0.751																																					p.A71T													.	.			0			c.G211A												12	14	13					17																	73043556		2200	4294	6494	SO:0001583	missense	23510	exon1			GGCGCGGCCCGCT	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.211G>A	17.37:g.73043556G>A	ENSP00000312814:p.Ala71Thr		25	0	0		22	0.14	3	NM_015353	18	0	0		Missense_Mutation	SNP	ENST00000322444.6	37	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773212	0.69992	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.49720	0.77	3.48	2.46	0.29980	BTB/POZ fold (1);	0.652028	0.14765	N	0.299749	T	0.28001	0.0690	N	0.14661	0.345	0.33149	D	0.545368	B	0.18461	0.028	B	0.10450	0.005	T	0.28586	-1.0039	10	0.27785	T	0.31	.	9.0873	0.36590	0.0:0.2276:0.7724:0.0	.	71	Q14681	KCTD2_HUMAN	T	71;53	ENSP00000312814:A71T	ENSP00000312814:A71T	A	+	1	0	KCTD2	70555151	1.000000	0.71417	0.987000	0.45799	0.923000	0.55619	5.181000	0.65054	0.706000	0.31912	0.442000	0.29010	GCC			0.751	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445538.1				A	73043556	G	A	73043556	3	1	90	1	0	0	0	0	1	0	0	0	8122	1203	42	2	213	2	KCTD2	17	73043556	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	824819	73043556	8151654	58	6336											
PLIN3	10226	broad.mit.edu	37	chr19	4839419	4839419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggtcctccacctggcGgcgggcctgctgcacctggt	3	8	15	15	2	0	0	0	0	0	0	2	1	2	1	5	6	2	2	5	6	0	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr19:4839419G>T	ENST00000221957.4	-	8	1266	c.1090C>A	c.(1090-1092)Cgc>Agc	p.R364S	PLIN3_ENST00000585479.1_Missense_Mutation_p.R363S|CTC-518P12.6_ENST00000591657.1_RNA|PLIN3_ENST00000592528.1_Missense_Mutation_p.R352S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	364					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TCCACCTGGCGGCGGGCCTGC	0.657																																					p.R364S													.	PLIN3	36		0			c.C1090A												39	33	35					19																	4839419		2203	4300	6503	SO:0001583	missense	10226	exon8			CCTGGCGGCGGGC	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.1090C>A	19.37:g.4839419G>T	ENSP00000221957:p.Arg364Ser		125	0	0		113	0.04	4	NM_005817	193	0	0	A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	0.119	-1.128638	0.01756	.	.	ENSG00000105355	ENST00000221957	T	0.05925	3.37	4.96	-0.578	0.11724	.	1.939470	0.02303	N	0.071390	T	0.04588	0.0125	N	0.17723	0.515	0.09310	N	1	B;B;B	0.12630	0.005;0.006;0.006	B;B;B	0.11329	0.003;0.004;0.006	T	0.39272	-0.9622	10	0.09084	T	0.74	-29.4679	7.4754	0.27374	0.1457:0.0:0.5988:0.2555	.	363;181;364	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	S	364	ENSP00000221957:R364S	ENSP00000221957:R364S	R	-	1	0	PLIN3	4790419	0.001000	0.12720	0.008000	0.14137	0.029000	0.11900	0.796000	0.26986	0.116000	0.18110	0.555000	0.69702	CGC			0.657	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000450436.1		NM_005817		T	4839419	G	T	4839419	3	4	90	1	0	0	0	0	1	0	0	0	12108	1116	39	1	218	1	PLIN3	19	4839419	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		4839419	54289564	59	6337											
ZNF763	284390	mdanderson.org	37	chr19	12089265	12089265	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccctatgcttgtaaaGaatgtggaaaaacctttatt	16	12	7	6	0	0	2	0	0	0	2	0	3	0	3	2	1	3	2	2	1	8	6			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr19:12089265G>T	ENST00000358987.3	+	4	653	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	ZNF763_ENST00000343949.5_Nonsense_Mutation_p.E179*|ZNF763_ENST00000538752.1_Nonsense_Mutation_p.E196*|ZNF763_ENST00000590798.1_Nonsense_Mutation_p.E196*|ZNF763_ENST00000545530.1_Nonsense_Mutation_p.E54*			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E178K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGCTTGTAAAGAATGTGGAAA	0.418																																					p.E179X													ZNF763,NS,carcinoma,0,2	ZNF763	0	2	1	Substitution - Missense(1)	kidney(1)	c.G535T												107	112	111					19																	12089265		2201	4300	6501	SO:0001587	stop_gained	284390	exon4			TGTAAAGAATGTG	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.526G>T	19.37:g.12089265G>T	ENSP00000402017:p.Glu176*		122	0	0		100	0.05	5	NM_001012753	4	0	0	B3KRU3|B4DRE7	Nonsense_Mutation	SNP	ENST00000358987.3	37		.	.	.	.	.	.	.	.	.	.	g	13.91	2.378993	0.42207	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	.	.	.	1.16	-2.32	0.06745	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	4.0701	0.09879	0.208:0.2387:0.5533:0.0	.	.	.	.	X	196;179;54;176	.	ENSP00000369774:E179X	E	+	1	0	ZNF763	11950265	0.000000	0.05858	0.014000	0.15608	0.110000	0.19582	-0.034000	0.12225	-0.340000	0.08388	0.195000	0.17529	GAA			0.418	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding		OTTHUMT00000344158.1		NM_001012753		T	12089265	G	T	12089265	4	4	90	1	0	0	0	0	0	1	0	0	18160	943	33	3	549	3	ZNF763	19	12089265	Nonsense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	7249846	12089265	47039718	60	6338											
FCGBP	8857	mdanderson.org	37	chr19	40421328	40421328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggtccccggacccctGgcaggtcccgaagcgatcgg	5	6	16	14	4	0	0	0	0	0	0	3	3	2	1	5	5	1	1	5	5	1	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr19:40421328G>T	ENST00000221347.6	-	5	2600	c.2593C>A	c.(2593-2595)Cag>Aag	p.Q865K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	865	VWFD 2. {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)			CCGGACCCCTGGCAGGTCCCG	0.682																																					p.Q865K													.	.			0			c.C2593A												20	21	21					19																	40421328		2199	4298	6497	SO:0001583	missense	8857	exon5			ACCCCTGGCAGGT	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.2593C>A	19.37:g.40421328G>T	ENSP00000221347:p.Gln865Lys		77	0	0		53	0.06	3	NM_003890	4	0	0	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.154979	0.21371	.	.	ENSG00000090920	ENST00000221347	T	0.58060	0.36	4.59	0.808	0.18719	von Willebrand factor, type D domain (3);	0.536258	0.16871	N	0.196126	T	0.36552	0.0971	N	0.25890	0.77	0.24688	N	0.993323	P	0.37500	0.597	B	0.42882	0.401	T	0.13926	-1.0491	10	0.33141	T	0.24	.	3.1664	0.06538	0.0873:0.1454:0.32:0.4473	.	865	Q9Y6R7	FCGBP_HUMAN	K	865	ENSP00000221347:Q865K	ENSP00000221347:Q865K	Q	-	1	0	FCGBP	45113168	0.000000	0.05858	0.998000	0.56505	0.406000	0.30931	-1.121000	0.03270	0.454000	0.26884	0.491000	0.48974	CAG			0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462507.1		NM_003890		T	40421328	G	T	40421328	3	4	90	1	0	0	0	0	1	0	0	0	5791	1357	47	3	13752	3	FCGBP	19	40421328	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	28332063	40421328	18707655	61	6339											
CEACAM5	1048	mdanderson.org	37	chr19	42212685	42212685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctccccacagatggtGcatcccctggcagaggctcc	6	6	11	18	0	0	2	0	0	0	2	3	2	3	2	7	4	1	3	7	4	0	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr19:42212685G>A	ENST00000221992.6	+	1	149	c.35G>A	c.(34-36)tGc>tAc	p.C12Y	CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000398599.4_Missense_Mutation_p.C12Y|CEA_ENST00000598976.1_Missense_Mutation_p.C12Y|CEACAM5_ENST00000405816.1_Missense_Mutation_p.C12Y	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	12					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)		CACAGATGGTGCATCCCCTGG	0.607																																					p.C12Y													.	.			0			c.G35A												46	38	41					19																	42212685		2203	4300	6503	SO:0001583	missense	1048	exon1			GATGGTGCATCCC	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.35G>A	19.37:g.42212685G>A	ENSP00000221992:p.Cys12Tyr		66	0	0		37	0.08	3	NM_004363	0		0	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	10.34	1.323500	0.24080	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.38077	1.16;1.16	3.01	0.767	0.18482	.	.	.	.	.	T	0.49525	0.1562	M	0.84511	2.7	0.09310	N	1	P;P;P	0.48230	0.588;0.907;0.907	B;P;P	0.53490	0.356;0.727;0.636	T	0.36383	-0.9750	9	0.45353	T	0.12	.	4.7958	0.13272	0.3283:0.0:0.6717:0.0	.	12;12;12	Q8N4D0;P06731;Q53G30	.;CEAM5_HUMAN;.	Y	12	ENSP00000221992:C12Y;ENSP00000385072:C12Y	ENSP00000221992:C12Y	C	+	2	0	CEACAM5	46904525	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-2.202000	0.01235	0.127000	0.18452	0.313000	0.20887	TGC			0.607	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000321132.2		NM_004363		A	42212685	G	A	42212685	3	1	90	1	0	0	0	0	1	0	0	0	3197	1319	46	2	37	2	CEACAM5	19	42212685	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	1791357	42212685	16916298	62	6340											
ZNF649	65251	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	52394804	52394804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtatgaattctcttatgCtcagtgagctgagacttctt	8	16	8	9	0	3	3	1	3	2	1	4	4	3	3	1	0	2	3	1	0	3	5			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr19:52394804C>T	ENST00000354957.3	-	5	869	c.585G>A	c.(583-585)gaG>gaA	p.E195E	ZNF649_ENST00000600738.1_Silent_p.E195E|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TTCTCTTATGCTCAGTGAGCT	0.448																																					p.E195E													.	ZNF649	72		0			c.G585A												161	151	155					19																	52394804		2203	4300	6503	SO:0001819	synonymous_variant	65251	exon5			CTTATGCTCAGTG	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.585G>A	19.37:g.52394804C>T			234	0.0042735043	1		167	0.23	38	NM_023074	90	0.38	34	A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	CCDS12843.1																																																																																					0.448	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461097.1		NM_023074		T	52394804	C	T	52394804	2	4	90	1	0	0	0	0	0	0	0	1	18087	796	28	2		2	ZNF649	19	52394804	Silent	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	10182119	52394804	6734179	63	6341											
ZNF836	162962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	52658148	52658148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgaacccagaagttaggaGaacatctaaaggcttttcca	14	11	8	8	0	1	3	0	1	1	2	2	4	2	3	2	2	2	2	2	2	6	5			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr19:52658148G>C	ENST00000322146.8	-	5	3309	c.2788C>G	c.(2788-2790)Ctc>Gtc	p.L930V	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.L930V	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	930					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGTTAGGAGAACATCTAAA	0.343																																					p.L930V													.	.			0			c.C2788G												42	41	41					19																	52658148		1991	4179	6170	SO:0001583	missense	162962	exon5			TTAGGAGAACATC	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2788C>G	19.37:g.52658148G>C	ENSP00000325038:p.Leu930Val		112	0	0		94	0.23	22	NM_001102657	25	0.56	14		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.415233	0.01136	.	.	ENSG00000196267	ENST00000322146	T	0.05447	3.44	1.02	-2.03	0.07365	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47433	-0.9118	9	0.17832	T	0.49	.	3.669	0.08266	0.0:0.4385:0.2249:0.3366	.	930	Q6ZNA1	ZN836_HUMAN	V	930	ENSP00000325038:L930V	ENSP00000325038:L930V	L	-	1	0	ZNF836	57349960	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.904000	0.01593	-0.539000	0.06273	-1.081000	0.02215	CTC			0.343	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462456.1		NM_001102657		C	52658148	G	C	52658148	3	2	90	1	0	0	0	0	1	0	0	0	18210	942	33	5	24	5	ZNF836	19	52658148	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	263344	52658148	6470835	64	6342											
ZNF776	284309	mdanderson.org	37	chr19	58265468	58265468	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccttatgaatgtgacGaatgtgggaaatcttttagc	14	12	10	5	1	1	3	0	2	1	1	1	5	1	4	1	1	1	0	1	1	6	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr19:58265468G>T	ENST00000317178.5	+	3	1233	c.970G>T	c.(970-972)Gaa>Taa	p.E324*	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TGAATGTGACGAATGTGGGAA	0.433																																					p.E324X													.	.			0			c.G970T												92	86	88					19																	58265468		2203	4300	6503	SO:0001587	stop_gained	284309	exon3			TGTGACGAATGTG	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.970G>T	19.37:g.58265468G>T	ENSP00000321812:p.Glu324*		81	0	0		52	0.06	3	NM_173632	42	0	0	Q6ZS36|Q8N968	Nonsense_Mutation	SNP	ENST00000317178.5	37	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	G	38	6.787281	0.97837	.	.	ENSG00000152443	ENST00000317178	.	.	.	1.86	0.513	0.17000	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.5114	0.33220	0.0:0.3994:0.6006:0.0	.	.	.	.	X	324	.	ENSP00000321812:E324X	E	+	1	0	ZNF776	62957280	0.000000	0.05858	0.236000	0.24074	0.730000	0.41778	-0.685000	0.05167	1.027000	0.39758	0.313000	0.20887	GAA			0.433	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346722.2		NM_173632		T	58265468	G	T	58265468	4	4	90	1	0	0	0	0	0	1	0	0	18172	1059	37	1	980	1	ZNF776	19	58265468	Nonsense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	5607320	58265468	863515	65	6343											
CPXM1	56265	mdanderson.org	37	chr20	2781176	2781176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccagagccgggccgaCggccggcgcgaaggcggcca	6	0	17	18	8	0	1	0	0	0	1	0	3	0	1	6	5	1	0	6	5	1	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr20:2781176C>T	ENST00000380605.2	-	1	107	c.43G>A	c.(43-45)Gtc>Atc	p.V15I		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	15					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCCGGGCCGACGGCCGGCGCG	0.766																																					p.V15I													.	.			0			c.G43A												1	2	2					20																	2781176		1050	2425	3475	SO:0001583	missense	56265	exon1			GGCCGACGGCCGG	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.43G>A	20.37:g.2781176C>T	ENSP00000369979:p.Val15Ile		14	0	0		10	0.2	2	NM_001184699	9	0	0	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934618	0.34189	.	.	ENSG00000088882	ENST00000380605	D	0.95724	-3.79	4.45	3.44	0.39384	.	0.263174	0.20039	N	0.100559	D	0.89114	0.6623	N	0.24115	0.695	0.09310	N	1	B;B	0.24368	0.102;0.102	B;B	0.15052	0.012;0.012	T	0.79584	-0.1743	10	0.34782	T	0.22	-7.4882	8.7072	0.34363	0.2444:0.7556:0.0:0.0	.	15;15	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	I	15	ENSP00000369979:V15I	ENSP00000369979:V15I	V	-	1	0	CPXM1	2729176	0.014000	0.17966	0.230000	0.23976	0.205000	0.24178	-0.016000	0.12613	2.305000	0.77605	0.491000	0.48974	GTC			0.766	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077643.2		NM_019609		T	2781176	C	T	2781176	3	4	90	1	0	0	0	0	1	0	0	0	3839	536	19	1	2217	1	CPXM1	20	2781176	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10		2781176	60244344	66	6344											
KCNS1	3787	mdanderson.org	37	chr20	43726516	43726516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcgggtggcagaagaaGttgcgcgtactgggcgccag	8	7	18	8	4	0	3	0	1	0	2	0	3	0	3	1	3	3	3	1	3	3	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr20:43726516G>T	ENST00000306117.1	-	4	1293	c.897C>A	c.(895-897)aaC>aaA	p.N299K	KCNS1_ENST00000537075.1_Missense_Mutation_p.N299K	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	299					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGCAGAAGAAGTTGCGCGTAC	0.642																																					p.N299K													.	.			0			c.C897A												62	50	54					20																	43726516		2202	4300	6502	SO:0001583	missense	3787	exon4			GAAGAAGTTGCGC	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.897C>A	20.37:g.43726516G>T	ENSP00000307694:p.Asn299Lys		53	0	0		39	0.08	3	NM_002251	19	0	0	A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	G	2.742	-0.262024	0.05791	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.97209	-4.29;-4.29	5.11	2.88	0.33553	Ion transport (1);	0.300020	0.39687	N	0.001290	T	0.80681	0.4669	N	0.00101	-2.135	0.40235	D	0.977899	B	0.09022	0.002	B	0.14023	0.01	T	0.81446	-0.0929	10	0.02654	T	1	.	9.1084	0.36712	0.0:0.3398:0.5409:0.1193	.	299	Q96KK3	KCNS1_HUMAN	K	299	ENSP00000307694:N299K;ENSP00000445595:N299K	ENSP00000307694:N299K	N	-	3	2	KCNS1	43159930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.166000	0.31834	2.383000	0.81215	0.561000	0.74099	AAC			0.642	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080507.3		NM_002251		T	43726516	G	T	43726516	3	4	90	1	0	0	0	0	1	0	0	0	8103	1020	36	3	691	3	KCNS1	20	43726516	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	40945340	43726516	19299004	67	6345											
NCOA5	57727	mdanderson.org	37	chr20	44690957	44690957	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcagtaatgcctctggtaAgatcccatgggggcctgtgg	7	11	13	10	0	2	1	1	0	1	1	3	1	3	1	3	4	1	2	3	4	2	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr20:44690957A>G	ENST00000290231.6	-	8	1886	c.1722T>C	c.(1720-1722)tcT>tcC	p.S574S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	574	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCCTCTGGTAAGATCCCATGG	0.552																																					p.S574S													.	.			0			c.T1722C												42	39	40					20																	44690957		2203	4300	6503	SO:0001819	synonymous_variant	57727	exon8			CTGGTAAGATCCC		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1722T>C	20.37:g.44690957A>G			63	0	0		51	0.06	3	NM_020967	120	0	0	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Silent	SNP	ENST00000290231.6	37	CCDS13392.1																																																																																					0.552	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079559.1		NM_020967		G	44690957	A	G	44690957	2	3	90	1	0	0	0	0	0	0	0	1	10249	59	3	4		4	NCOA5	20	44690957	Silent	SNP	A	TCGA-SB-A76C-01A-11D-A435-10	964441	44690957	18334563	68	6346											
ADARB1	104	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	46604964	46604964	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgggacggggtgctgcaagGggagcggctgctcaccatgt	6	7	19	9	2	1	0	1	0	0	0	1	2	1	2	1	6	4	4	1	6	1	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr21:46604964G>C	ENST00000360697.3	+	7	1658	c.1643G>C	c.(1642-1644)gGg>gCg	p.G548A	ADARB1_ENST00000389863.4_Missense_Mutation_p.G548A|ADARB1_ENST00000348831.4_Missense_Mutation_p.G508A|ADARB1_ENST00000539173.1_Missense_Mutation_p.G548A|ADARB1_ENST00000437626.1_3'UTR			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	548	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)		GTGCTGCAAGGGGAGCGGCTG	0.587																																					p.G548A													.	ADARB1	81		0			c.G1643C												123	115	118					21																	46604964		2203	4300	6503	SO:0001583	missense	104	exon9			TGCAAGGGGAGCG	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.1643G>C	21.37:g.46604964G>C	ENSP00000353920:p.Gly548Ala		77	0	0		101	0.05	5	NM_015834	7	0	0	A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113542	0.94339	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	5.42	5.42	0.78866	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	M	0.78344	2.41	0.80722	D	1	P;B;B;D	0.59767	0.624;0.309;0.409;0.986	P;B;B;P	0.58130	0.512;0.342;0.292;0.833	D	0.96747	0.9551	10	0.72032	D	0.01	-40.7817	17.0803	0.86597	0.0:0.0:1.0:0.0	.	548;508;536;548	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	A	548;548;548;508;548	ENSP00000441897:G548A;ENSP00000374513:G548A;ENSP00000015877:G508A;ENSP00000353920:G548A	ENSP00000015877:G508A	G	+	2	0	ADARB1	45429392	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	9.404000	0.97306	2.712000	0.92718	0.563000	0.77884	GGG			0.587	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000206648.2		NM_015833		C	46604964	G	C	46604964	3	2	90	1	0	0	0	0	1	0	0	0	282	1232	43	5	1669	5	ADARB1	21	46604964	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		46604964	1524931	69	6347											
CSF2RB	1439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	37326718	37326718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtgctcctcagggaGgaagagtgctccccagtgct	6	10	13	12	0	2	1	1	0	1	1	4	3	4	3	3	2	4	4	3	2	1	0			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr22:37326718G>A	ENST00000403662.3	+	8	1080	c.858G>A	c.(856-858)gaG>gaA	p.E286E	CSF2RB_ENST00000406230.1_Silent_p.E292E|CSF2RB_ENST00000536485.1_Silent_p.E233E|CSF2RB_ENST00000262825.5_Silent_p.E292E			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	286					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)	TCCTCAGGGAGGAAGAGTGCT	0.682																																					p.E286E													.	.			0			c.G858A												34	33	33					22																	37326718		2203	4300	6503	SO:0001819	synonymous_variant	1439	exon8			CAGGGAGGAAGAG	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.858G>A	22.37:g.37326718G>A			67	0	0		45	0.47	21	NM_000395	2	0.5	1	Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	CCDS13936.1																																																																																					0.682	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318854.1		NM_000395		A	37326718	G	A	37326718	2	1	90	1	0	0	0	0	0	0	0	1	3937	991	35	3		3	CSF2RB	22	37326718	Silent	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		37326718	13977848	70	6348											
EP300	2033	broad.mit.edu	37	chr22	41531831	41531831	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttaggtgctagtcctatgGgagtaaatggaggtgtagga	11	11	15	4	0	0	0	0	0	0	0	1	3	1	3	1	5	1	3	1	5	6	5			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr22:41531831G>T	ENST00000263253.7	+	7	2762	c.1543G>T	c.(1543-1545)Gga>Tga	p.G515*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	515					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.G515*(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TAGTCCTATGGGAGTAAATGG	0.348			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																												p.G515X				Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	EP300,NS,carcinoma,0,1	EP300	367	1	1	Substitution - Nonsense(1)	endometrium(1)	c.G1543T												134	130	131					22																	41531831		2203	4300	6503	SO:0001587	stop_gained	2033	exon7	Familial Cancer Database	Broad Thumb-Hallux syndrome	CCTATGGGAGTAA	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1543G>T	22.37:g.41531831G>T	ENSP00000263253:p.Gly515*		263	0	0		249	0.02	4	NM_001429	77	0	0	B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	50	16.203231	0.99857	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.98	5.98	0.97165	.	0.000000	0.47455	D	0.000225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-6.7031	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	X	515	.	ENSP00000263253:G515X	G	+	1	0	EP300	39861777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.270000	0.95690	2.835000	0.97688	0.650000	0.86243	GGA			0.348	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320600.1		NM_001429		T	41531831	G	T	41531831	4	4	90	1	0	0	0	0	0	1	0	0	5155	1233	43	3	1569	3	EP300	22	41531831	Nonsense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	4205113	41531831	9772735	71	6349											
CSDC2	27254	broad.mit.edu	37	chr22	41968126	41968126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccctctgcccaccaagCggaccaggacctattcagcg	9	5	9	18	2	2	0	1	0	1	0	2	2	2	2	6	2	4	0	6	2	2	2			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chr22:41968126C>T	ENST00000306149.7	+	2	701	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	53					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						GCCCACCAAGCGGACCAGGAC	0.657																																					p.R53W	NSCLC(181;294 2110 12667 14717 31090)												.	CSDC2	15		0			c.C157T												43	35	38					22																	41968126		2201	4298	6499	SO:0001583	missense	27254	exon2			ACCAAGCGGACCA	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.157C>T	22.37:g.41968126C>T	ENSP00000302485:p.Arg53Trp		252	0	0		232	0.02	5	NM_014460	1	0	0	Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747093	0.69418	.	.	ENSG00000172346	ENST00000306149;ENST00000460790	.	.	.	4.89	2.63	0.31362	.	0.055938	0.64402	D	0.000002	T	0.75939	0.3918	M	0.76170	2.325	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.78170	-0.2308	9	0.87932	D	0	.	11.2049	0.48762	0.6365:0.3635:0.0:0.0	.	53	Q9Y534	CSDC2_HUMAN	W	53;36	.	ENSP00000302485:R53W	R	+	1	2	CSDC2	40298072	0.987000	0.35691	0.985000	0.45067	0.982000	0.71751	2.191000	0.42640	1.031000	0.39867	0.549000	0.68633	CGG			0.657	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320689.1		NM_014460		T	41968126	C	T	41968126	3	4	90	1	0	0	0	0	1	0	0	0	3930	759	27	1	159	1	CSDC2	22	41968126	Missense_Mutation	SNP	C	TCGA-SB-A76C-01A-11D-A435-10	436295	41968126	9336440	72	6350											
MAOA	4128	mdanderson.org	37	chrX	43603153	43603153	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaacgagcagctagggagGtaagcaggaaagcccaggct	14	3	16	8	1	0	1	0	0	0	1	0	5	0	3	1	4	5	5	1	4	4	2			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chrX:43603153G>T	ENST00000338702.3	+	13	1497		c.e13+1		MAOA_ENST00000542639.1_Splice_Site	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A						cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	AGCTAGGGAGGTAAGCAGGAA	0.542																																					.													.	.			0			c.975+1G>T												78	51	60					X																	43603153		2164	4216	6380	SO:0001630	splice_region_variant	4128	exon14			AGGGAGGTAAGCA		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.1374+1G>T	X.37:g.43603153G>T			65	0	0		35	0.09	3	NM_001270458	1	0	0	B4DF46|Q16426	Splice_Site	SNP	ENST00000338702.3	37	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	G	9.748	1.166761	0.21621	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	.	.	.	5.84	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8984	0.58111	0.0811:0.0:0.9189:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAOA	43488097	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	8.906000	0.92626	1.217000	0.43442	-0.192000	0.12808	.			0.542	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056300.1		NM_000240	Intron	T	43603153	G	T	43603153	5	4	90	1	0	0	0	0	0	0	1	0	9241	1275	44	3	1425	3	MAOA	23	43603153	Splice_Site	SNP	G	TCGA-SB-A76C-01A-11D-A435-10		43603153	111667407	73	6351											
FAM104B	90736	mdanderson.org	37	chrX	55172718	55172718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatattaatgcggctgctGctcctttcattatcactcca	8	14	8	11	1	2	0	2	0	0	0	4	1	4	1	2	2	3	3	2	2	3	4			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chrX:55172718G>T	ENST00000358460.4	-	3	300	c.147C>A	c.(145-147)agC>agA	p.S49R	FAM104B_ENST00000477847.2_Missense_Mutation_p.S46R|FAM104B_ENST00000489298.1_Missense_Mutation_p.S48R|FAM104B_ENST00000332132.4_Missense_Mutation_p.S50R|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000425133.2_Missense_Mutation_p.S50R			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	49										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TGCGGCTGCTGCTCCTTTCAT	0.423																																					p.S50R													.	.			0			c.C150A												103	87	92					X																	55172718		2203	4300	6503	SO:0001583	missense	90736	exon3			GCTGCTGCTCCTT	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.147C>A	X.37:g.55172718G>T	ENSP00000364101:p.Ser49Arg		28	0	0		39	0.08	3	NM_001166700	95	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	11.31	1.602193	0.28534	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	1.6	0.709	0.18150	.	0.107284	0.40908	U	0.000999	T	0.52581	0.1743	L	0.46157	1.445	0.09310	N	1	D;P;P	0.56035	0.974;0.782;0.782	B;P;P	0.58391	0.361;0.838;0.504	T	0.42616	-0.9441	10	0.72032	D	0.01	-2.7265	3.5968	0.08009	0.2606:0.0:0.7394:0.0	.	50;49;50	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	R	49;50;50;46;48	ENSP00000364101:S49R;ENSP00000333394:S50R;ENSP00000397188:S50R;ENSP00000421161:S46R;ENSP00000423164:S48R	ENSP00000333394:S50R	S	-	3	2	FAM104B	55189443	0.993000	0.37304	0.023000	0.16930	0.170000	0.22686	0.403000	0.20982	0.162000	0.19483	0.436000	0.28706	AGC			0.423	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		T	55172718	G	T	55172718	3	4	90	1	0	0	0	0	1	0	0	0	5396	1310	46	2	305	2	FAM104B	23	55172718	Missense_Mutation	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	11569565	55172718	100097842	74	6352											
MPP1	4354	mdanderson.org	37	chrX	154020464	154020464	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgagtcgcactttccGcacctcctgtcccttgacct	5	13	7	16	2	0	2	0	2	0	0	4	2	3	2	5	0	0	3	5	0	1	3			TCGA-SB-A76C-01A-11D-A435-10	TCGA-SB-A76C-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93ef8c47-511c-41fd-af49-9f0490f4eabf	bfa61308-ebae-4b8c-acd3-b5cc89318427	g.chrX:154020464G>T	ENST00000369534.3	-	2	346	c.199C>A	c.(199-201)Cgg>Agg	p.R67R	MPP1_ENST00000413259.3_Silent_p.R37R|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Silent_p.R67R	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	67					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCACTTTCCGCACCTCCTGT	0.557																																					p.R67R													.	.			0			c.C199A												116	96	102					X																	154020464		2203	4300	6503	SO:0001819	synonymous_variant	4354	exon2			CTTTCCGCACCTC		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.199C>A	X.37:g.154020464G>T			82	0	0		98	0.05	5	NM_002436	19	0	0	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Silent	SNP	ENST00000369534.3	37	CCDS14762.1																																																																																					0.557	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061191.3		NM_002436		T	154020464	G	T	154020464	2	4	90	1	0	0	0	0	0	0	0	1	9749	1086	38	1		1	MPP1	23	154020464	Silent	SNP	G	TCGA-SB-A76C-01A-11D-A435-10	98847746	154020464	1250096	75	6353											
CYP4B1	1580	hgsc.bcm.edu	37	chr1	47276567	47276567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggttcggacagttcattGgcttcctgaacatctatgag	8	14	10	9	1	3	2	1	2	2	0	5	3	4	3	1	3	1	3	1	3	2	5			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr1:47276567G>T	ENST00000271153.4	+	2	304	c.268G>T	c.(268-270)Ggc>Tgc	p.G90C	CYP4B1_ENST00000452782.2_5'Flank|CYP4B1_ENST00000371919.4_Missense_Mutation_p.G90C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.G90C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	90					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ACAGTTCATTGGCTTCCTGAA	0.572																																					p.G90C													.	.			0			c.G268T												91	77	81					1																	47276567		2203	4300	6503	SO:0001583	missense	1580	exon2			TTCATTGGCTTCC	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.268G>T	1.37:g.47276567G>T	ENSP00000271153:p.Gly90Cys		60	0	0		61	0.07	4	NM_000779	0		0	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.327061	0.24080	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919	T;T;T	0.79247	-1.25;-1.25;-0.39	5.67	4.76	0.60689	.	0.299613	0.37623	N	0.002017	T	0.80894	0.4711	L	0.43152	1.355	0.30932	N	0.726753	D;D;D	0.67145	0.996;0.98;0.984	D;P;P	0.65684	0.937;0.831;0.895	T	0.79208	-0.1898	9	.	.	.	.	9.7673	0.40567	0.0776:0.1413:0.7811:0.0	.	90;90;90	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	90	ENSP00000360991:G90C;ENSP00000271153:G90C;ENSP00000360987:G90C	.	G	+	1	0	CYP4B1	47049154	0.127000	0.22367	0.550000	0.28217	0.327000	0.28475	1.488000	0.35551	1.408000	0.46895	0.655000	0.94253	GGC			0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000021911.1		NM_000779		T	47276567	G	T	47276567	3	4	91	1	0	0	0	0	1	0	0	0	4187	1348	47	3	274	3	CYP4B1	1	47276567	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		47276567	201974054	1	6354											
ORC1L	4998	broad.mit.edu	37	chr1	52859133	52859133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctctttttgatgttttctGgtttcagaatcacggatggc	7	17	9	8	1	4	2	2	1	2	1	4	3	4	3	1	3	0	2	1	3	1	5			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr1:52859133G>T	ENST00000371568.3	-	6	1282	c.1064C>A	c.(1063-1065)cCa>cAa	p.P355Q	ORC1_ENST00000371566.1_Missense_Mutation_p.P355Q	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	355					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GATGTTTTCTGGTTTCAGAAT	0.428																																					p.P355Q													.	ORC1	79		0			c.C1064A												239	219	226					1																	52859133		2203	4300	6503	SO:0001583	missense	4998	exon6			TTTTCTGGTTTCA		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1064C>A	1.37:g.52859133G>T	ENSP00000360623:p.Pro355Gln		188	0	0		171	0.03	5	NM_004153	74	0	0	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669522	0.29693	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.40225	1.04;1.04	4.39	4.39	0.52855	.	0.314552	0.34133	N	0.004225	T	0.41305	0.1153	M	0.64997	1.995	0.37216	D	0.905045	B;B	0.28552	0.215;0.215	B;B	0.28916	0.096;0.096	T	0.49504	-0.8933	10	0.49607	T	0.09	-15.3533	12.7679	0.57403	0.0:0.0:1.0:0.0	.	355;355	B7Z8H0;Q13415	.;ORC1_HUMAN	Q	355	ENSP00000360623:P355Q;ENSP00000360621:P355Q	ENSP00000360621:P355Q	P	-	2	0	ORC1	52631721	0.995000	0.38212	0.950000	0.38849	0.786000	0.44442	3.817000	0.55668	2.724000	0.93272	0.655000	0.94253	CCA			0.428	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022202.1		NM_004153		T	52859133	G	T	52859133	3	4	91	1	0	0	0	0	1	0	0	0	11278	1348	47	3	1569	3	ORC1L	1	52859133	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	5582566	52859133	196391488	2	6355											
ACP6	51205	broad.mit.edu	37	chr1	147142085	147142085	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctcggccagggccAcccgccgctggtgcaggcag	5	4	15	17	3	0	0	0	0	0	0	1	0	0	0	5	4	3	5	5	4	0	0	rs201678741		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr1:147142085A>C	ENST00000369238.6	-	1	533	c.86T>G	c.(85-87)gTg>gGg	p.V29G	ACP6_ENST00000392988.2_Missense_Mutation_p.V29G	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	29					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GGCCAGGGCCACCCGCCGCTG	0.657																																					p.V29G													.	ACP6	36		0			c.T86G												12	10	11					1																	147142085		2053	4027	6080	SO:0001583	missense	51205	exon1			AGGGCCACCCGCC	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.86T>G	1.37:g.147142085A>C	ENSP00000358241:p.Val29Gly		57	0.2807017544	16		95	0.35	33	NM_016361	35	0.14	5	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	CCDS928.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149393	0.37923	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	T;T	0.48522	2.65;0.81	5.28	-5.16	0.02857	.	0.609019	0.16327	N	0.219309	T	0.09555	0.0235	L	0.34521	1.04	0.43385	D	0.99549	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.22730	-1.0208	10	0.19147	T	0.46	.	1.0577	0.01593	0.2021:0.3491:0.2212:0.2275	.	29;29	Q9NPH0-2;Q9NPH0	.;PPA6_HUMAN	G	29	ENSP00000358241:V29G;ENSP00000376714:V29G	ENSP00000358241:V29G	V	-	2	0	ACP6	145608709	0.001000	0.12720	0.927000	0.36925	0.947000	0.59692	-0.635000	0.05471	-0.919000	0.03803	-0.460000	0.05396	GTG			0.657	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039420.2		NM_016361		C	147142085	A	C	147142085	3	2	91	1	0	0	0	0	1	0	0	0	165	159	6	4	1240	4	ACP6	1	147142085	Missense_Mutation	SNP	A	TCGA-SN-A6IS-01A-11D-A435-10	94282952	147142085	102108536	3	6356											
BAT2L2	23215	broad.mit.edu	37	chr1	171535453	171535453	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcctcaaatggaaatGaaaatgaagttgttcctgtg	13	11	9	8	0	1	2	1	2	0	0	3	3	3	3	3	1	1	2	3	1	5	2			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr1:171535453G>T	ENST00000338920.4	+	21	6430	c.6193G>T	c.(6193-6195)Gaa>Taa	p.E2065*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E2065*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E2067*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.E2067*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2065					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAATGGAAATGAAAATGAAGT	0.423																																					p.E2065X													.	.			0			c.G6193T												46	46	46					1																	171535453		2203	4300	6503	SO:0001587	stop_gained	23215	exon21			GGAAATGAAAATG	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.6193G>T	1.37:g.171535453G>T	ENSP00000343629:p.Glu2065*		369	0	0		544	0.01	7	NM_015172	271	0	0	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	48|48	14.553090|14.553090	0.99800|0.99800	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.46145|.	D|.	0.000303|.	.|T	.|0.67832	.|0.2935	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67432	.|-0.5672	.|3	0.52906|.	T|.	0.07|.	.|.	18.2398|18.2398	0.89963|0.89963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2067;2019;2065;2067;2065;1822|612	.|.	ENSP00000343629:E2065X|.	E|M	+|+	1|3	0|0	PRRC2C|PRRC2C	169802077|169802077	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.909000|0.909000	0.53808|0.53808	9.334000|9.334000	0.96470|0.96470	2.289000|2.289000	0.77006|0.77006	0.655000|0.655000	0.94253|0.94253	GAA|ATG			0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000314826.4		NM_015172		T	171535453	G	T	171535453	4	4	91	1	0	0	0	0	0	1	0	0	1321	1291	45	3	6271	3	BAT2L2	1	171535453	Nonsense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	24393368	171535453	77715168	4	6357											
METTL13	51603	broad.mit.edu	37	chr1	171759606	171759606	+	Frame_Shift_Del	DEL	A	A	-																															gtttagcccagaagaagcggAaaaaggacaggaagaagcag																										TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr1:171759606delA	ENST00000361735.3	+	5	1590	c.1324delA	c.(1324-1326)aaafs	p.K443fs	METTL13_ENST00000466643.1_Intron|METTL13_ENST00000362019.3_Frame_Shift_Del_p.K357fs|METTL13_ENST00000367737.5_Frame_Shift_Del_p.K287fs|METTL13_ENST00000458517.1_Frame_Shift_Del_p.K442fs	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	443							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GAAGAAGCGGAAAAAGGACAG	0.527																																					p.K442fs													.	METTL13	67		0			c.1324delA												91	87	88					1																	171759606		2203	4300	6503	SO:0001589	frameshift_variant	51603	exon5			AAGCGGAAAAAGG	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1324delA	1.37:g.171759606delA	ENSP00000354920:p.Lys443fs		342	0	0		543	0.02	9	NM_015935	132	0	0	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Frame_Shift_Del	DEL	ENST00000361735.3	37	CCDS1299.1																																																																																					0.527	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084528.5		NM_014955		-	171759606	A	-	171759606	7	5	91	1	0	1	0	1	0	0	0	0	9513	247	9	0	1342	0	METTL13	1	171759606	Frame_Shift_Del	DEL	A	TCGA-SN-A6IS-01A-11D-A435-10	224153	171759606	77491015	5	6358											
PLXNA2	5362	broad.mit.edu	37	chr1	208224629	208224629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccactctggctcgatgcGctggacccgagggtcatcta	6	9	12	14	3	3	0	1	0	2	0	5	3	4	1	2	3	1	3	2	3	1	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr1:208224629G>T	ENST00000367033.3	-	16	3890	c.3133C>A	c.(3133-3135)Cgc>Agc	p.R1045S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1045	IPT/TIG 3.				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)		GGCTCGATGCGCTGGACCCGA	0.587																																					p.R1045S													.	PLXNA2	178		0			c.C3133A												83	70	75					1																	208224629		2203	4300	6503	SO:0001583	missense	5362	exon16			CGATGCGCTGGAC	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.3133C>A	1.37:g.208224629G>T	ENSP00000356000:p.Arg1045Ser		290	0.0034482759	1		438	0.02	7	NM_025179	199	0	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372211	0.61624	.	.	ENSG00000076356	ENST00000367033	T	0.72282	-0.64	5.09	4.16	0.48862	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.100782	0.64402	N	0.000001	T	0.62648	0.2445	L	0.39898	1.24	0.58432	D	0.999998	B	0.17852	0.024	B	0.22152	0.038	T	0.56757	-0.7926	10	0.27785	T	0.31	.	14.852	0.70303	0.0:0.0:0.8551:0.1449	.	1045	O75051	PLXA2_HUMAN	S	1045	ENSP00000356000:R1045S	ENSP00000356000:R1045S	R	-	1	0	PLXNA2	206291252	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.350000	0.66016	1.107000	0.41642	0.557000	0.71058	CGC			0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088932.6		NM_025179		T	208224629	G	T	208224629	3	4	91	1	0	0	0	0	1	0	0	0	12137	1087	38	1	2619	1	PLXNA2	1	208224629	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	36465023	208224629	41025992	6	6359											
ROCK2	9475	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr2	11355177	11355178	+	Frame_Shift_Del	DEL	AG	AG	-																															cttaaccgggctgcagtatcAgactctgttcgcagtaaagc																										TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr2:11355177_11355178delAG	ENST00000315872.6	-	16	2172_2173	c.1724_1725delCT	c.(1723-1725)tctfs	p.S575fs	ROCK2_ENST00000401753.1_Frame_Shift_Del_p.S332fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	575	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTGCAGTATCAGACTCTGTTCG	0.386																																					p.575_576del													.	ROCK2	224		0			c.1725_1726del																																									SO:0001589	frameshift_variant	9475	exon16			AGTATCAGACTCT	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1724_1725delCT	2.37:g.11355177_11355178delAG	ENSP00000317985:p.Ser575fs		134	0	0		144	0.22	31	NM_004850	15	0	0	Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	CCDS42654.1																																																																																					0.386	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313886.3				-	11355178	AG	-	11355177	7	5	91	1	0	1	0	1	0	0	0	0	13541	175	7	0	2513	0	ROCK2	2	11355177	Frame_Shift_Del	DEL	AG	TCGA-SN-A6IS-01A-11D-A435-10		11355177	231844196	7	6360											
ARHGEF4	50649	mdanderson.org	37	chr2	131803741	131803741	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctggcacagcatcagccgGctggcacccttccgcaagtg	7	8	11	15	2	2	0	1	0	1	0	3	0	3	0	3	3	2	5	3	3	1	2			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr2:131803741G>T	ENST00000326016.5	+	14	2571	c.2052G>T	c.(2050-2052)cgG>cgT	p.R684R	ARHGEF4_ENST00000428230.2_Silent_p.R186R|ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000409303.1_Silent_p.R624R|ARHGEF4_ENST00000355771.3_Silent_p.R613R	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	684					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)		GCATCAGCCGGCTGGCACCCT	0.672																																					p.R684R													.	.			0			c.G2052T												31	34	33					2																	131803741		2202	4300	6502	SO:0001819	synonymous_variant	50649	exon14			CAGCCGGCTGGCA	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.2052G>T	2.37:g.131803741G>T			50	0	0		46	0.07	3	NM_015320	28	0	0	Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	CCDS2165.1																																																																																					0.672	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000254554.4				T	131803741	G	T	131803741	2	4	91	1	0	0	0	0	0	0	0	1	908	1190	42	2		2	ARHGEF4	2	131803741	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	120448564	131803741	111395632	8	6361											
SCN7A	6332	broad.mit.edu	37	chr2	167301385	167301385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggaaaagatcagtaaatgGtgccattataatcctatgga	17	10	9	5	0	1	1	1	0	0	1	2	3	2	3	2	3	1	1	2	3	8	4			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr2:167301385G>T	ENST00000409855.1	-	12	1639	c.1513C>A	c.(1513-1515)Cca>Aca	p.P505T		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	505					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCAGTAAATGGTGCCATTATA	0.328																																					p.P505T													.	SCN7A	410		0			c.C1513A												69	67	68					2																	167301385		1826	4092	5918	SO:0001583	missense	6332	exon12			TAAATGGTGCCAT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1513C>A	2.37:g.167301385G>T	ENSP00000386796:p.Pro505Thr		169	0	0		185	0.02	4	NM_002976	0		0		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091099	0.55968	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97831	-4.56;-4.56	5.43	5.43	0.79202	.	0.000000	0.51477	D	0.000097	D	0.98960	0.9646	M	0.91768	3.24	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	D	0.99470	1.0945	10	0.87932	D	0	.	16.7875	0.85577	0.0:0.0:1.0:0.0	.	505	Q01118	SCN7A_HUMAN	T	505	ENSP00000386796:P505T;ENSP00000413699:P505T	ENSP00000259060:P505T	P	-	1	0	SCN7A	167009631	1.000000	0.71417	0.967000	0.41034	0.023000	0.10783	7.827000	0.86722	2.823000	0.97156	0.650000	0.86243	CCA			0.328	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333745.1				T	167301385	G	T	167301385	3	4	91	1	0	0	0	0	1	0	0	0	13946	1261	44	3	3591	3	SCN7A	2	167301385	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	35497644	167301385	75897988	9	6362											
HECW2	57520	broad.mit.edu	37	chr2	197092904	197092904	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattggctgaatattcaaatAagccataatatgggttaaag	16	12	8	5	0	1	1	1	1	0	0	1	1	1	1	1	2	1	2	1	2	8	7			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr2:197092904A>C	ENST00000260983.3	-	22	4021	c.3839T>G	c.(3838-3840)tTa>tGa	p.L1280*	HECW2_ENST00000409111.1_Nonsense_Mutation_p.L924*	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1280	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATATTCAAATAAGCCATAATA	0.368																																					p.L1280X													.	HECW2	239		0			c.T3839G												94	96	95					2																	197092904		2203	4300	6503	SO:0001587	stop_gained	57520	exon22			TCAAATAAGCCAT	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3839T>G	2.37:g.197092904A>C	ENSP00000260983:p.Leu1280*		208	0	0		251	0.02	6	NM_020760	10	0	0	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Nonsense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	44	11.178893	0.99527	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6649	0.77221	1.0:0.0:0.0:0.0	.	.	.	.	X	924;1280	.	ENSP00000260983:L1280X	L	-	2	0	HECW2	196801149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.281000	0.76405	0.533000	0.62120	TTA			0.368	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335199.3		NM_020760		C	197092904	A	C	197092904	4	2	91	1	0	0	0	0	0	1	0	0	7058	372	13	4	911	4	HECW2	2	197092904	Nonsense_Mutation	SNP	A	TCGA-SN-A6IS-01A-11D-A435-10	29791519	197092904	46106469	10	6363											
C3orf39	84892	hgsc.bcm.edu	37	chr3	43121453	43121453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccatgcactgacgcctGgcaccgtgcctcccgcacct	5	6	11	19	4	0	1	0	1	0	0	1	1	1	1	6	2	2	3	6	2	0	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr3:43121453G>T	ENST00000344697.2	-	2	1816	c.1471C>A	c.(1471-1473)Cag>Aag	p.Q491K	POMGNT2_ENST00000441964.1_Missense_Mutation_p.Q491K	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	491	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										ACTGACGCCTGGCACCGTGCC	0.612																																					p.Q491K													.	.			0			c.C1471A												70	65	67					3																	43121453		2203	4300	6503	SO:0001583	missense	84892	exon2			ACGCCTGGCACCG	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1471C>A	3.37:g.43121453G>T	ENSP00000344125:p.Gln491Lys		68	0	0		84	0.05	4	NM_032806	57	0	0	B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980799	0.34942	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.77098	-1.07;-1.07	5.57	5.57	0.84162	Fibronectin, type III (1);	0.056896	0.64402	D	0.000001	T	0.80319	0.4601	M	0.79926	2.475	0.80722	D	1	B	0.16603	0.018	B	0.15052	0.012	T	0.76615	-0.2894	10	0.45353	T	0.12	-3.6479	18.5282	0.90981	0.0:0.0:1.0:0.0	.	491	Q8NAT1	AGO61_HUMAN	K	491	ENSP00000408992:Q491K;ENSP00000344125:Q491K	ENSP00000344125:Q491K	Q	-	1	0	C3orf39	43096457	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	9.470000	0.97683	2.618000	0.88619	0.655000	0.94253	CAG			0.612	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256643.1		NM_032806		T	43121453	G	T	43121453	3	4	91	1	0	0	0	0	1	0	0	0	2231	1357	47	3	275	3	C3orf39	3	43121453	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		43121453	154900977	11	6364											
GOLGB1	2804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	121448824	121448824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgaacatcttcttgtGtagtattattaaattccatg	10	17	6	8	0	2	1	0	1	2	0	4	1	4	1	2	0	1	3	2	0	6	7			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr3:121448824G>A	ENST00000340645.5	-	3	262	c.137C>T	c.(136-138)aCa>aTa	p.T46I	GOLGB1_ENST00000393667.3_Missense_Mutation_p.T46I|GOLGB1_ENST00000472829.1_5'UTR	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	46					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)		ATCTTCTTGTGTAGTATTATT	0.393																																					p.T46I													.	.			0			c.C137T												104	96	99					3																	121448824		2203	4300	6503	SO:0001583	missense	2804	exon3			TCTTGTGTAGTAT	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.137C>T	3.37:g.121448824G>A	ENSP00000341848:p.Thr46Ile		61	0	0		100	0.22	22	NM_004487	11	0.45	5	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883750	0.17467	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.24908	2.43;2.43;1.83	5.37	4.49	0.54785	.	0.468902	0.19967	N	0.102061	T	0.30103	0.0754	M	0.70595	2.14	0.09310	N	1	B;B;B;B;B	0.19583	0.037;0.037;0.021;0.037;0.037	B;B;B;B;B	0.26202	0.039;0.067;0.021;0.039;0.039	T	0.22173	-1.0224	10	0.49607	T	0.09	.	10.0983	0.42488	0.0927:0.0:0.9073:0.0	.	7;46;46;46;46	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	I	46	ENSP00000341848:T46I;ENSP00000377275:T46I;ENSP00000418231:T46I	ENSP00000341848:T46I	T	-	2	0	GOLGB1	122931514	0.032000	0.19561	0.009000	0.14445	0.014000	0.08584	1.477000	0.35431	1.399000	0.46721	0.585000	0.79938	ACA			0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000355159.1		NM_004487		A	121448824	G	A	121448824	3	1	91	1	0	0	0	0	1	0	0	0	6579	1377	48	3	9722	3	GOLGB1	3	121448824	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	78327371	121448824	76573606	12	6365											
SPATA16	83893	broad.mit.edu	37	chr3	172643226	172643226	+	Frame_Shift_Del	DEL	G	G	-																															aagagtcaagagatattgttGgggaggaaaagatgaccagt																										TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr3:172643226delG	ENST00000351008.3	-	7	1321	c.1138delC	c.(1138-1140)caafs	p.Q381fs		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	381					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AGATATTGTTGGGGAGGAAAA	0.383																																					p.Q380fs													.	SPATA16	111		0			c.1138delC												87	85	86					3																	172643226		2203	4300	6503	SO:0001589	frameshift_variant	83893	exon7			ATTGTTGGGGAGG	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1138delC	3.37:g.172643226delG	ENSP00000341765:p.Gln381fs		271	0	0		296	0.03	8	NM_031955	0		0	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Frame_Shift_Del	DEL	ENST00000351008.3	37	CCDS3221.1																																																																																					0.383	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346322.1		NM_031955		-	172643226	G	-	172643226	7	5	91	1	0	1	0	1	0	0	0	0	15024	1357	47	0	591	0	SPATA16	3	172643226	Frame_Shift_Del	DEL	G	TCGA-SN-A6IS-01A-11D-A435-10	51194402	172643226	25379204	13	6366											
PIGX	54965	mdanderson.org	37	chr3	196443744	196443744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataggcataagggccatgtGttctgaaattattttgaggc	11	14	11	5	0	1	2	0	2	1	0	1	2	1	2	1	3	0	2	1	3	5	7			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr3:196443744G>T	ENST00000421265.1	+	2	58	c.5G>T	c.(4-6)tGt>tTt	p.C2F	PIGX_ENST00000314118.4_Missense_Mutation_p.C2F|PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000541663.1_5'UTR			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	43					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|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)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-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;0.00322)		AGGGCCATGTGTTCTGAAATT	0.259																																					p.C43F													.	.			0			c.G128T												88	89	89					3																	196443744		2203	4300	6503	SO:0001583	missense	54965	exon2			CCATGTGTTCTGA	AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"Phosphatidylinositol glycan anchor biosynthesis"	26046	protein-coding gene	gene with protein product		610276	"phosphatidylinositol glycan, class X"			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.5G>T	3.37:g.196443744G>T	ENSP00000416446:p.Cys2Phe		87	0	0		97	0.05	5	NM_017861	15	0	0	Q9NWZ2	Missense_Mutation	SNP	ENST00000421265.1	37		.	.	.	.	.	.	.	.	.	.	G	15.71	2.912604	0.52439	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000451319	T;T;T;T;T;T	0.52526	1.32;0.73;1.3;0.66;0.68;0.74	5.0	5.0	0.66597	.	0.161580	0.42964	D	0.000626	T	0.57110	0.2031	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.61481	-0.7054	10	0.87932	D	0	-13.2566	16.2801	0.82672	0.0:0.0:1.0:0.0	.	43;43	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	F	2;43;2;43;2;2	ENSP00000409073:C2F;ENSP00000376192:C43F;ENSP00000317301:C2F;ENSP00000296333:C43F;ENSP00000416446:C2F;ENSP00000390804:C2F	ENSP00000296333:C43F	C	+	2	0	PIGX	197928141	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	5.407000	0.66363	2.601000	0.87937	0.650000	0.86243	TGT			0.259	PIGX-008	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000340684.1		NM_017861		T	196443744	G	T	196443744	3	4	91	1	0	0	0	0	1	0	0	0	11920	1377	48	3	134	3	PIGX	3	196443744	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	23800518	196443744	1578686	14	6367											
IDUA	3425	broad.mit.edu	37	chr4	996204	996204	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttccaggtcaacaacAcccgcccgccgcacgtgcag	8	4	10	19	6	1	0	1	0	0	0	2	0	2	0	4	1	3	3	4	1	2	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000453894.1_Missense_Mutation_p.T396P|IDUA_ENST00000514224.1_Missense_Mutation_p.T242P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																					p.T374P													.	IDUA	33		0			c.A1120C												26	28	27					4																	996204		2185	4282	6467	SO:0001583	missense	3425	exon8			AACAACACCCGCC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro		90	0.3222222222	29		113	0.35	39	NM_000203	4	0	0	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC			0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000201812.1		NM_000203		C	996204	A	C	996204	3	2	91	1	0	0	0	0	1	0	0	0	7519	159	6	4	1150	4	IDUA	4	996204	Missense_Mutation	SNP	A	TCGA-SN-A6IS-01A-11D-A435-10		996204	190158072	15	6368											
POLN	353497	hgsc.bcm.edu	37	chr4	2077181	2077181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttgccccaggctacctGcacactccgggatctgcgga	6	9	12	14	2	1	0	0	0	1	0	2	2	2	2	4	3	4	3	4	3	1	2			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr4:2077181G>T	ENST00000511885.2	-	24	2806	c.2453C>A	c.(2452-2454)gCa>gAa	p.A818E	POLN_ENST00000382865.1_Missense_Mutation_p.A818E			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	818					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CAGGCTACCTGCACACTCCGG	0.607								DNA polymerases (catalytic subunits)																													p.A818E													.	.			0			c.C2453A												75	61	66					4																	2077181		2203	4300	6503	SO:0001583	missense	353497	exon22			CTACCTGCACACT	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2453C>A	4.37:g.2077181G>T	ENSP00000435506:p.Ala818Glu		80	0	0		80	0.05	4	NM_181808	0		0	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.286|2.286	-0.363630|-0.363630	0.05103|0.05103	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313|ENST00000511098	D;D|.	0.97352|.	-4.35;-4.35|.	3.07|3.07	3.07|3.07	0.35406|0.35406	DNA-directed DNA polymerase, family A, palm domain (1);|.	0.241761|.	0.31577|.	N|.	0.007415|.	T|T	0.61009|0.61009	0.2313|0.2313	L|L	0.56396|0.56396	1.775|1.775	0.44366|0.44366	D|D	0.997261|0.997261	D;B|.	0.58268|.	0.982;0.028|.	P;B|.	0.55055|.	0.767;0.1|.	T|T	0.59225|0.59225	-0.7494|-0.7494	10|5	0.10902|.	T|.	0.67|.	-6.2793|-6.2793	9.8885|9.8885	0.41276|0.41276	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	509;818|.	E9PE06;Q7Z5Q5|.	.;DPOLN_HUMAN|.	E|K	818;818;509|451	ENSP00000435506:A818E;ENSP00000372316:A818E|.	ENSP00000253313:A509E|.	A|Q	-|-	2|1	0|0	POLN|POLN	2046979|2046979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.166000|0.166000	0.22503|0.22503	5.985000|5.985000	0.70556|0.70556	2.034000|2.034000	0.60081|0.60081	0.561000|0.561000	0.74099|0.74099	GCA|CAG			0.607	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000205684.2		NM_181808		T	2077181	G	T	2077181	3	4	91	1	0	0	0	0	1	0	0	0	12224	1319	46	2	261	2	POLN	4	2077181	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	1080977	2077181	189077095	16	6369											
HTT	3064	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	3237461	3237461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcacagcccgcaccGggccatggcggctctgggcc	6	4	15	16	4	1	0	0	0	1	0	1	1	1	0	4	4	3	3	4	4	1	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr4:3237461G>T	ENST00000355072.5	+	63	8886	c.8741G>T	c.(8740-8742)cGg>cTg	p.R2914L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2914					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.R2914L(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCCGCACCGGGCCATGGCG	0.627																																					p.R2914L													HTT,NS,carcinoma,0,1	HTT	221	1	1	Substitution - Missense(1)	endometrium(1)	c.G8741T												29	34	32					4																	3237461		2130	4244	6374	SO:0001583	missense	3064	exon63			CGCACCGGGCCAT	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8741G>T	4.37:g.3237461G>T	ENSP00000347184:p.Arg2914Leu		39	0	0		22	0.18	4	NM_002111	111	0	0	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841469	0.71488	.	.	ENSG00000197386	ENST00000355072	T	0.71461	-0.57	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.80495	-0.1357	10	0.27785	T	0.31	.	17.0288	0.86455	0.0:0.0:1.0:0.0	.	2914	P42858	HD_HUMAN	L	2914	ENSP00000347184:R2914L	ENSP00000347184:R2914L	R	+	2	0	HTT	3207259	1.000000	0.71417	0.995000	0.50966	0.789000	0.44602	9.208000	0.95075	2.571000	0.86741	0.561000	0.74099	CGG			0.627	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358234.2		NM_002111		T	3237461	G	T	3237461	3	4	91	1	0	0	0	0	1	0	0	0	7472	1116	39	1	8991	1	HTT	4	3237461	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	1160280	3237461	187916815	17	6370											
RASGEF1B	153020	mdanderson.org	37	chr4	82368726	82368726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcccaatataattgaGcctctcctgaaacacaaacc	13	10	5	13	0	2	2	0	2	2	0	3	2	2	2	4	1	3	0	4	1	5	4			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr4:82368726G>T	ENST00000264400.2	-	6	812	c.661C>A	c.(661-663)Ctc>Atc	p.L221I	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.L220I|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.L179I	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	221	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						ATATAATTGAGCCTCTCCTGA	0.433																																					p.L221I													.	.			0			c.C661A												68	65	66					4																	82368726		2203	4300	6503	SO:0001583	missense	153020	exon6			AATTGAGCCTCTC	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.661C>A	4.37:g.82368726G>T	ENSP00000264400:p.Leu221Ile		74	0	0		48	0.06	3	NM_152545	5	0	0	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838022	0.50951	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.01	5.01	0.66863	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.064067	0.64402	D	0.000005	T	0.47948	0.1473	M	0.63428	1.95	0.80722	D	1	B;B;B	0.28850	0.188;0.188;0.225	B;B;B	0.41202	0.238;0.238;0.35	T	0.47661	-0.9100	10	0.48119	T	0.1	.	18.107	0.89523	0.0:0.0:1.0:0.0	.	179;220;221	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	I	220;221;179;66	ENSP00000425393:L220I;ENSP00000264400:L221I;ENSP00000338437:L179I;ENSP00000426929:L66I	ENSP00000264400:L221I	L	-	1	0	RASGEF1B	82587750	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.243000	0.78219	2.606000	0.88127	0.655000	0.94253	CTC			0.433	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000362830.1		NM_152545		T	82368726	G	T	82368726	3	4	91	1	0	0	0	0	1	0	0	0	13093	971	34	2	796	2	RASGEF1B	4	82368726	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	79131265	82368726	108785550	18	6371											
SEC31A	22872	mdanderson.org	37	chr4	83763615	83763615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgttccgaagggataCggctgggctggttgataagc	7	9	14	11	2	0	1	0	1	0	0	1	3	1	2	3	4	2	4	3	4	3	4			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr4:83763615C>T	ENST00000395310.2	-	22	2828	c.2646G>A	c.(2644-2646)ccG>ccA	p.P882P	SEC31A_ENST00000508502.1_Silent_p.P882P|SEC31A_ENST00000355196.2_Silent_p.P882P|SEC31A_ENST00000509142.1_Intron|SEC31A_ENST00000505472.1_Silent_p.P913P|SEC31A_ENST00000311785.7_Intron|SEC31A_ENST00000348405.4_Silent_p.P843P|SEC31A_ENST00000500777.2_Intron|SEC31A_ENST00000443462.2_Silent_p.P877P|SEC31A_ENST00000432794.1_Silent_p.P882P|SEC31A_ENST00000448323.1_Silent_p.P882P|SEC31A_ENST00000264405.5_Silent_p.P646P|SEC31A_ENST00000513858.1_Intron|SEC31A_ENST00000326950.5_Silent_p.P843P|SEC31A_ENST00000505984.1_Silent_p.P843P	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	882	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|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)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CGAAGGGATACGGCTGGGCTG	0.433																																					p.P882P													.	.			0			c.G2646A												29	26	27					4																	83763615		2203	4297	6500	SO:0001819	synonymous_variant	22872	exon22			GGGATACGGCTGG	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2646G>A	4.37:g.83763615C>T			68	0	0		50	0.06	3	NM_001077207	287	0	0	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	8.745	0.919855	0.17982	.	.	ENSG00000138674	ENST00000503937	.	.	.	6.04	4.3	0.51218	.	.	.	.	.	T	0.62816	0.2459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61628	-0.7024	4	.	.	.	0.0035	11.5732	0.50845	0.0:0.8071:0.1262:0.0667	.	.	.	.	H	32	.	.	R	-	2	0	SEC31A	83982639	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.314000	0.65804	1.546000	0.49388	0.563000	0.77884	CGT			0.433	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252640.1		NM_016211		T	83763615	C	T	83763615	2	4	91	1	0	0	0	0	0	0	0	1	14021	523	19	1		1	SEC31A	4	83763615	Silent	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	1394889	83763615	107390661	19	6372											
UFSP2	55325	broad.mit.edu;mdanderson.org	37	chr4	186324768	186324768	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgtgggccaaaactccTccccctatagaagaaaaaat	15	9	7	10	0	0	2	0	0	0	2	2	2	2	2	4	1	1	0	4	1	8	3	rs370422258		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr4:186324768T>C	ENST00000264689.6	-	11	1319	c.1203A>G	c.(1201-1203)ggA>ggG	p.G401G		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	401						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		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;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CCAAAACTCCTCCCCCTATAG	0.418																																					p.G401G													UFSP2,bladder,carcinoma,-2,1	UFSP2	33	1	0			c.A1203G												85	81	82					4																	186324768		2203	4300	6503	SO:0001819	synonymous_variant	55325	exon11			AACTCCTCCCCCT	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.1203A>G	4.37:g.186324768T>C			93	0	0		82	0.05	4	NM_018359	97	0	0	Q6IA77|Q96FS3	Silent	SNP	ENST00000264689.6	37	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.179|8.179	0.793348|0.793348	0.16327|0.16327	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000511485	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|.	.|.	.|.	.|.	T|T	0.63450|0.63450	0.2512|0.2512	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62459|0.62459	-0.6850|-0.6850	4|4	.|.	.|.	.|.	-15.9808|-15.9808	11.2412|11.2412	0.48970|0.48970	0.1365:0.0:0.0:0.8635|0.1365:0.0:0.0:0.8635	.|.	.|.	.|.	.|.	G|G	130|300	.|.	.|.	E|R	-|-	2|1	0|2	UFSP2|UFSP2	186561762|186561762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.854000|0.854000	0.48673|0.48673	0.945000|0.945000	0.29056|0.29056	2.259000|2.259000	0.74868|0.74868	0.533000|0.533000	0.62120|0.62120	GAG|AGG			0.418	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360589.2		NM_018359		C	186324768	T	C	186324768	2	2	91	1	0	0	0	0	0	0	0	1	16962	1538	54	4		4	UFSP2	4	186324768	Silent	SNP	T	TCGA-SN-A6IS-01A-11D-A435-10	102561153	186324768	4829508	20	6373											
AGXT2	64902	mdanderson.org	37	chr5	35035382	35035382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggccatcagcatggccaGctcattggcttctgagccac	7	9	10	15	0	3	1	2	1	1	0	3	1	3	1	4	3	3	3	4	3	0	2			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr5:35035382G>T	ENST00000231420.6	-	5	726	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	176					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	AGCATGGCCAGCTCATTGGCT	0.428																																					p.L176M													.	.			0			c.C526A												126	136	133					5																	35035382		2203	4300	6503	SO:0001583	missense	64902	exon5			TGGCCAGCTCATT	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.526C>A	5.37:g.35035382G>T	ENSP00000231420:p.Leu176Met		35	0	0		31	0.1	3	NM_031900	0		0	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896368	0.52121	.	.	ENSG00000113492	ENST00000231420	D	0.85773	-2.03	6.06	-0.0664	0.13764	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.69248	2.105	0.43160	D	0.994943	P;D;P	0.55605	0.766;0.972;0.914	P;P;P	0.59115	0.51;0.852;0.541	T	0.82920	-0.0218	10	0.52906	T	0.07	-0.8334	5.8543	0.18710	0.4111:0.0:0.3967:0.1922	.	84;176;176	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	M	176	ENSP00000231420:L176M	ENSP00000231420:L176M	L	-	1	2	AGXT2	35071139	0.567000	0.26626	0.993000	0.49108	0.907000	0.53573	0.818000	0.27295	0.155000	0.19261	-0.137000	0.14449	CTG			0.428	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207574.2		NM_031900		T	35035382	G	T	35035382	3	4	91	1	0	0	0	0	1	0	0	0	405	962	34	2	1058	2	AGXT2	5	35035382	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		35035382	145879878	21	6374											
CUL9	23113	mdanderson.org	37	chr6	43166534	43166534	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacccagcctttcctcctGttgctgcggactctggatgc	5	11	11	14	1	1	1	0	0	1	1	3	4	3	3	4	2	4	2	4	2	0	2			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr6:43166534G>T	ENST00000252050.4	+	12	3075	c.2991G>T	c.(2989-2991)ctG>ctT	p.L997L	CUL9_ENST00000372647.2_Silent_p.L997L|CUL9_ENST00000354495.3_Silent_p.L887L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	997					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						CTTTCCTCCTGTTGCTGCGGA	0.647																																					p.L997L													.	.			0			c.G2991T												43	47	46					6																	43166534		2202	4300	6502	SO:0001819	synonymous_variant	23113	exon12			CCTCCTGTTGCTG	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.2991G>T	6.37:g.43166534G>T			38	0	0		37	0.08	3	NM_015089	18	0	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																					0.647	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040582.2		NM_015089		T	43166534	G	T	43166534	2	4	91	1	0	0	0	0	0	0	0	1	4063	1364	48	3		3	CUL9	6	43166534	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		43166534	127948533	22	6375											
MRAP2	112609	mdanderson.org	37	chr6	84765083	84765083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagaacctcccagcaatcgGcatctaattctgattacacc	13	9	5	14	1	2	2	0	1	2	1	4	2	3	2	3	1	3	2	3	1	4	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr6:84765083G>T	ENST00000257776.4	+	2	181	c.46G>T	c.(46-48)Gca>Tca	p.A16S		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	16					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						CCAGCAATCGGCATCTAATTC	0.413																																					p.A16S													.	.			0			c.G46T												85	86	86					6																	84765083		2203	4300	6503	SO:0001583	missense	112609	exon2			CAATCGGCATCTA	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.46G>T	6.37:g.84765083G>T	ENSP00000257776:p.Ala16Ser		59	0	0		52	0.06	3	NM_138409	7	0	0	A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	G	9.471	1.095754	0.20552	.	.	ENSG00000135324	ENST00000257776	D	0.86230	-2.09	5.58	-1.71	0.08133	.	0.645172	0.16224	N	0.223925	T	0.45716	0.1356	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45498	-0.9257	10	0.11485	T	0.65	.	2.9702	0.05920	0.1585:0.0932:0.2002:0.5481	.	16	Q96G30	MRAP2_HUMAN	S	16	ENSP00000257776:A16S	ENSP00000257776:A16S	A	+	1	0	MRAP2	84821802	0.014000	0.17966	0.010000	0.14722	0.855000	0.48748	-0.025000	0.12413	-0.203000	0.10251	-0.152000	0.13540	GCA			0.413	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041367.1		NM_138409		T	84765083	G	T	84765083	3	4	91	1	0	0	0	0	1	0	0	0	9770	1203	42	2	48	2	MRAP2	6	84765083	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	41598549	84765083	86349984	23	6376											
CDK13	8621	mdanderson.org	37	chr7	39991320	39991320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggctgccgcgctccccgagCccctacagtcgccgccgctc	3	5	11	22	7	0	0	0	0	0	0	3	1	1	0	7	1	3	3	7	1	1	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr7:39991320C>T	ENST00000181839.4	+	1	1685	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	RP11-467D6.1_ENST00000569710.1_RNA|CDK13_ENST00000340829.5_Silent_p.S360S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	360					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						GCTCCCCGAGCCCCTACAGTC	0.721																																					p.S360S													.	.			0			c.C1080T												6	8	7					7																	39991320		1632	3417	5049	SO:0001819	synonymous_variant	8621	exon1			CCCGAGCCCCTAC	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.1080C>T	7.37:g.39991320C>T			9	0	0		13	0.15	2	NM_003718	44	0	0	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	CCDS5461.1																																																																																					0.721	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250726.2		NM_003718		T	39991320	C	T	39991320	2	4	91	1	0	0	0	0	0	0	0	1	3131	738	26	2		2	CDK13	7	39991320	Silent	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10		39991320	119147343	24	6377											
ZNF789	285989	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	99084226	99084227	+	Frame_Shift_Del	DEL	GT	GT	-																															ctttcagaaaagttacataaGtgtaaagaatttgtggacag																										TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	GT	GT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr7:99084226_99084227delGT	ENST00000331410.5	+	5	663_664	c.393_394delGT	c.(391-396)aagtgtfs	p.C132fs	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	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)					AGTTACATAAGTGTAAAGAATT	0.366																																					p.131_131del													.	ZNF789	33		0			c.392_393del																																									SO:0001589	frameshift_variant	285989	exon5			ACATAAGTGTAAA	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.393_394delGT	7.37:g.99084228_99084229delGT	ENSP00000331927:p.Cys132fs		191	0	0		189	0.14	27	NM_213603	40	0	0	A4D282|A6NH61|Q6ZMZ9	Frame_Shift_Del	DEL	ENST00000331410.5	37	CCDS34693.1																																																																																					0.366	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336266.1		NM_213603		-	99084227	GT	-	99084226	7	5	91	1	0	1	0	1	0	0	0	0	18183	1020	36	0	449	0	ZNF789	7	99084226	Frame_Shift_Del	DEL	GT	TCGA-SN-A6IS-01A-11D-A435-10	59092906	99084226	60054437	25	6378											
ZNF777	27153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	149153033	149153033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaacagagtttctcggggGagtccagcaggggcctgacg	8	7	17	9	2	1	2	0	1	1	1	3	4	2	4	2	5	2	2	2	5	1	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr7:149153033G>A	ENST00000247930.4	-	2	404	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	27					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)			TTTCTCGGGGGAGTCCAGCAG	0.547																																					p.L27L													.	.			0			c.C81T												64	70	68					7																	149153033		1897	4113	6010	SO:0001819	synonymous_variant	27153	exon2			TCGGGGGAGTCCA	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.81C>T	7.37:g.149153033G>A			98	0	0		112	0.21	23	NM_015694	49	0.39	19	Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	CCDS43675.1																																																																																					0.547	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352708.1		NM_015694		A	149153033	G	A	149153033	2	1	91	1	0	0	0	0	0	0	0	1	18173	1161	41	3		3	ZNF777	7	149153033	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	50068807	149153033	9985630	26	6379											
CHPF2	54480	mdanderson.org	37	chr7	150932588	150932588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtctcctgcttcgtctgCggccacatctggatggctgc	4	11	13	13	2	3	0	0	0	3	0	5	2	3	2	2	4	3	2	2	4	0	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr7:150932588C>T	ENST00000035307.2	+	2	2231	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.R232W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	240					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)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GCTTCGTCTGCGGCCACATCT	0.622																																					p.R240W													.	.			0			c.C718T												86	81	82					7																	150932588		2203	4299	6502	SO:0001583	missense	54480	exon2			CGTCTGCGGCCAC	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.718C>T	7.37:g.150932588C>T	ENSP00000035307:p.Arg240Trp		33	0	0		28	0.11	3	NM_019015	46	0	0	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745010	0.69418	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.27557	1.66;1.66	5.85	3.09	0.35607	.	0.286386	0.41001	N	0.000969	T	0.37433	0.1003	L	0.42245	1.32	0.43296	D	0.995283	D;B	0.76494	0.999;0.003	P;B	0.59546	0.859;0.001	T	0.08764	-1.0706	10	0.56958	D	0.05	-8.3494	6.5658	0.22511	0.0:0.6611:0.1286:0.2103	.	240;232	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	W	232;240;240	ENSP00000418914:R232W;ENSP00000035307:R240W	ENSP00000035307:R240W	R	+	1	2	CHPF2	150563521	1.000000	0.71417	0.990000	0.47175	0.937000	0.57800	2.004000	0.40854	0.394000	0.25230	-0.140000	0.14226	CGG			0.622	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348648.2		NM_019015		T	150932588	C	T	150932588	3	4	91	1	0	0	0	0	1	0	0	0	3371	759	27	1	724	1	CHPF2	7	150932588	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	1779555	150932588	8206075	27	6380											
ASH2L	9070	mdanderson.org	37	chr8	37963102	37963102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggacctggccaggaaGcgggtgccgggcctggccca	7	3	18	13	2	0	0	0	0	0	0	0	3	0	2	5	6	3	1	5	6	1	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr8:37963102G>T	ENST00000343823.6	+	1	343	c.34G>T	c.(34-36)Gcg>Tcg	p.A12S	ASH2L_ENST00000428278.2_5'Flank|ASH2L_ENST00000250635.7_5'UTR|ASH2L_ENST00000545394.1_5'UTR|ASH2L_ENST00000521652.1_5'Flank	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	12					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TGGCCAGGAAGCGGGTGCCGG	0.672																																					p.A12S													.	.			0			c.G34T												13	16	15					8																	37963102		2191	4275	6466	SO:0001583	missense	9070	exon1			CAGGAAGCGGGTG	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.34G>T	8.37:g.37963102G>T	ENSP00000340896:p.Ala12Ser		32	0	0		42	0.07	3	NM_004674	78	0	0	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129692	0.21041	.	.	ENSG00000129691	ENST00000343823;ENST00000517719	T	0.63580	-0.05	5.06	2.16	0.27623	.	0.625852	0.14269	N	0.330248	T	0.37210	0.0995	N	0.08118	0	0.24387	N	0.994767	B	0.06786	0.001	B	0.06405	0.002	T	0.25047	-1.0143	10	0.59425	D	0.04	.	5.1515	0.15011	0.0959:0.0:0.5287:0.3754	.	12	Q9UBL3	ASH2L_HUMAN	S	12	ENSP00000340896:A12S	ENSP00000340896:A12S	A	+	1	0	ASH2L	38082259	0.871000	0.30034	0.043000	0.18650	0.003000	0.03518	0.681000	0.25320	0.727000	0.32360	0.655000	0.94253	GCG			0.672	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376749.4		NM_004674		T	37963102	G	T	37963102	3	4	91	1	0	0	0	0	1	0	0	0	1042	971	34	2	36	2	ASH2L	8	37963102	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		37963102	108400920	28	6381											
SLC20A2	6575	broad.mit.edu	37	chr8	42329669	42329669	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtctccaccgtctcgttGtacaggttcacgtcaatgat	9	12	9	11	3	4	2	2	1	2	1	6	2	4	2	2	1	1	3	2	1	2	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr8:42329669G>T	ENST00000342228.3	-	2	609	c.240C>A	c.(238-240)taC>taA	p.Y80*	SLC20A2_ENST00000520262.1_Nonsense_Mutation_p.Y80*|SLC20A2_ENST00000520179.1_Nonsense_Mutation_p.Y80*	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	80					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCGTCTCGTTGTACAGGTTCA	0.502																																					p.Y80X													.	SLC20A2	64		0			c.C240A												265	222	237					8																	42329669		2203	4300	6503	SO:0001587	stop_gained	6575	exon2			CTCGTTGTACAGG		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.240C>A	8.37:g.42329669G>T	ENSP00000340465:p.Tyr80*		301	0	0		328	0.02	7	NM_001257181	36	0	0		Nonsense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789508	0.96945	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-26.5671	17.6287	0.88100	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000340465:Y80X	Y	-	3	2	SLC20A2	42448826	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.772000	0.75001	2.763000	0.94921	0.591000	0.81541	TAC			0.502	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377578.1				T	42329669	G	T	42329669	4	4	91	1	0	0	0	0	0	1	0	0	14462	1372	48	3	1758	3	SLC20A2	8	42329669	Nonsense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	4366567	42329669	104034353	29	6382											
PUF60	22827	broad.mit.edu	37	chr8	144899807	144899807	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctgccacagcagcGgcaggtgggaggcctccagg	8	3	17	13	1	0	0	0	0	0	0	1	1	1	1	3	5	5	5	3	5	0	0	rs202135558	byFrequency	TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr8:144899807G>T	ENST00000526683.1	-	9	1518	c.963C>A	c.(961-963)gcC>gcA	p.A321A	PUF60_ENST00000349157.6_Silent_p.A304A|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000453551.2_Silent_p.A278A|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Silent_p.A275A|PUF60_ENST00000456095.2_Silent_p.A292A|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000313352.7_Silent_p.A261A	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	321	Ala-rich.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCACAGCAGCGGCAGGTGGGA	0.662																																					p.A321A													.	PUF60	26		0			c.C963A												29	37	34					8																	144899807		1937	4032	5969	SO:0001819	synonymous_variant	22827	exon9			AGCAGCGGCAGGT	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.963C>A	8.37:g.144899807G>T			60	0	0		69	0.04	3	NM_078480	623	0	0	A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	37	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	G	8.297	0.819011	0.16607	.	.	ENSG00000179950	ENST00000532884;ENST00000527744	.	.	.	3.93	-3.77	0.04346	.	.	.	.	.	T	0.36880	0.0983	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	1.3552	0.02181	0.3102:0.1266:0.102:0.4612	.	.	.	.	Q	191;319	.	.	P	-	2	0	PUF60	144971795	0.967000	0.33354	0.998000	0.56505	0.967000	0.64934	0.176000	0.16782	-0.173000	0.10761	-1.686000	0.00732	CCG			0.662	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000382222.1		NM_014281		T	144899807	G	T	144899807	2	4	91	1	0	0	0	0	0	0	0	1	12847	1103	39	1		1	PUF60	8	144899807	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	102570138	144899807	1464215	30	6383											
LAMC3	10319	mdanderson.org	37	chr9	133951288	133951288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctccaacaccagctacGcgcttctctggaatctgctg	7	10	8	16	3	2	0	0	0	2	0	5	1	3	1	3	1	4	3	3	1	3	2	rs375541717		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr9:133951288G>T	ENST00000361069.4	+	21	3698	c.3565G>T	c.(3565-3567)Gcg>Tcg	p.A1189S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1189	Domain II and I.				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)		CACCAGCTACGCGCTTCTCTG	0.627																																					p.A1189S													.	.			0			c.G3565T												52	46	48					9																	133951288		2203	4300	6503	SO:0001583	missense	10319	exon21			AGCTACGCGCTTC	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.3565G>T	9.37:g.133951288G>T	ENSP00000354360:p.Ala1189Ser		42	0	0		57	0.05	3	NM_006059	101	0	0	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	1.056	-0.674284	0.03378	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.26957	1.7	5.03	-7.63	0.01290	.	1.692860	0.02631	N	0.104267	T	0.18045	0.0433	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.20107	-1.0285	10	0.10902	T	0.67	.	9.2118	0.37322	0.2791:0.0:0.6101:0.1108	.	1189	Q9Y6N6	LAMC3_HUMAN	S	1189	ENSP00000354360:A1189S	ENSP00000347156:A1189S	A	+	1	0	LAMC3	132941109	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.901000	0.04093	-1.654000	0.01499	-0.681000	0.03757	GCG			0.627	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054717.3		NM_006059		T	133951288	G	T	133951288	3	4	91	1	0	0	0	0	1	0	0	0	8631	1087	38	1	3647	1	LAMC3	9	133951288	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		133951288	7262143	31	6384											
LAMC3	10319	mdanderson.org	37	chr9	133952608	133952608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggcccagaaagcactgAggacggctgtggcagaggtg	10	4	18	9	2	0	3	0	1	0	2	0	4	0	4	1	6	1	3	1	6	1	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr9:133952608A>G	ENST00000361069.4	+	22	3797	c.3664A>G	c.(3664-3666)Agg>Ggg	p.R1222G	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1222	Domain II and I.				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)		GAAAGCACTGAGGACGGCTGT	0.652																																					p.R1222G													.	.			0			c.A3664G												63	62	62					9																	133952608		2203	4300	6503	SO:0001583	missense	10319	exon22			GCACTGAGGACGG	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.3664A>G	9.37:g.133952608A>G	ENSP00000354360:p.Arg1222Gly		50	0	0		49	0.06	3	NM_006059	91	0	0	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	A	4.962	0.178756	0.09443	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.27720	1.65	4.83	1.93	0.25924	.	0.720518	0.13281	N	0.399774	T	0.08935	0.0221	N	0.00621	-1.32	0.21967	N	0.999446	B	0.02656	0.0	B	0.04013	0.001	T	0.33675	-0.9859	10	0.22706	T	0.39	.	8.5915	0.33690	0.2675:0.0:0.7325:0.0	.	1222	Q9Y6N6	LAMC3_HUMAN	G	1222	ENSP00000354360:R1222G	ENSP00000347156:R1222G	R	+	1	2	LAMC3	132942429	0.936000	0.31750	0.925000	0.36789	0.039000	0.13416	1.056000	0.30480	0.567000	0.29293	-0.220000	0.12472	AGG			0.652	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054717.3		NM_006059		G	133952608	A	G	133952608	3	3	91	1	0	0	0	0	1	0	0	0	8631	295	11	4	3750	4	LAMC3	9	133952608	Missense_Mutation	SNP	A	TCGA-SN-A6IS-01A-11D-A435-10	1320	133952608	7260823	32	6385											
ABCA2	20	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr9	139907669	139907669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaacgtgggccccagcgagCcgttggcgggagacttgagc	7	6	16	12	4	1	2	1	1	0	1	1	4	1	2	3	3	4	1	3	3	1	2			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr9:139907669C>T	ENST00000371605.3	-	29	4796	c.4649G>A	c.(4648-4650)gGc>gAc	p.G1550D	ABCA2_ENST00000341511.6_Missense_Mutation_p.G1551D|ABCA2_ENST00000265662.5_Missense_Mutation_p.G1551D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1550					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)		CCCCAGCGAGCCGTTGGCGGG	0.692																																					p.G1581D													.	.			0			c.G4742A												7	11	10					9																	139907669		1848	3930	5778	SO:0001583	missense	20	exon30			AGCGAGCCGTTGG	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.4649G>A	9.37:g.139907669C>T	ENSP00000360666:p.Gly1550Asp		40	0	0		34	0.18	6	NM_212533	22	0.23	5	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	C	7.714	0.695857	0.15106	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.86297	-2.1;-2.1;-2.1	4.68	3.7	0.42460	.	0.250633	0.23515	U	0.047359	T	0.71508	0.3348	N	0.14661	0.345	0.29537	N	0.852396	B;B	0.22346	0.038;0.068	B;B	0.13407	0.009;0.009	T	0.59418	-0.7458	10	0.10902	T	0.67	.	8.4378	0.32797	0.0:0.7461:0.1591:0.0948	.	1550;1581	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	D	1551;1550;1581;1551	ENSP00000265662:G1551D;ENSP00000360666:G1550D;ENSP00000344155:G1551D	ENSP00000265662:G1551D	G	-	2	0	ABCA2	139027490	1.000000	0.71417	0.849000	0.33467	0.126000	0.20510	4.020000	0.57189	2.142000	0.66516	0.491000	0.48974	GGC			0.692	ABCA2-202	KNOWN	basic	protein_coding	protein_coding				NM_001606		T	139907669	C	T	139907669	3	4	91	1	0	0	0	0	1	0	0	0	32	739	26	2	2738	2	ABCA2	9	139907669	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	5955061	139907669	1305762	33	6386											
DPP7	29952	broad.mit.edu	37	chr9	140006326	140006326	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccccctcagccttaccAcccccccagaagctggtcag	8	5	6	22	0	2	1	2	0	0	1	2	1	2	1	8	1	3	1	8	1	2	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr9:140006326A>C	ENST00000371579.2	-	10	1210	c.1206T>G	c.(1204-1206)ggT>ggG	p.G402G		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	402						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)	p.D403fs*1(1)		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)		CAGCCTTACCACCCCCCCAGA	0.701																																					p.G402G													.	DPP7	22		1	Insertion - Frameshift(1)	large_intestine(1)	c.T1206G												23	30	28					9																	140006326		2200	4298	6498	SO:0001630	splice_region_variant	29952	exon10			CTTACCACCCCCC	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.1207+1T>G	9.37:g.140006326A>C			67	0.1194029851	8		75	0.19	14	NM_013379	154	0.04	6	A8K7U7|Q5VSF1|Q969X4	Splice_Site	SNP	ENST00000371579.2	37	CCDS7030.1																																																																																					0.701	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055279.1		NM_013379	Silent	C	140006326	A	C	140006326	5	2	91	1	0	0	0	0	0	0	1	0	4736	173	6	4	288	4	DPP7	9	140006326	Splice_Site	SNP	A	TCGA-SN-A6IS-01A-11D-A435-10	98657	140006326	1207105	34	6387											
SLC29A3	55315	hgsc.bcm.edu	37	chr10	73121735	73121735	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatgaggcctgttcttgcGgcccatgtgttttctggtga	5	15	12	9	1	2	2	0	2	2	0	2	2	2	2	2	3	2	2	2	3	1	5	rs370631755		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr10:73121735G>T	ENST00000373189.5	+	6	850	c.798G>T	c.(796-798)gcG>gcT	p.A266A	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	266					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTTCTTGCGGCCCATGTGT	0.597																																					p.A266A	Esophageal Squamous(200;1319 2142 18949 31248 39672)												.	.			0			c.G798T												76	63	68					10																	73121735		2203	4300	6503	SO:0001819	synonymous_variant	55315	exon6			TCTTGCGGCCCAT	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.798G>T	10.37:g.73121735G>T			77	0	0		118	0.03	3	NM_018344	45	0	0	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	ENST00000373189.5	37	CCDS7310.1																																																																																					0.597	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048544.1		NM_018344		T	73121735	G	T	73121735	2	4	91	1	0	0	0	0	0	0	0	1	14559	1103	39	1		1	SLC29A3	10	73121735	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		73121735	62413012	35	6388											
MYST4	23522	mdanderson.org	37	chr10	76788681	76788681	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaagaagaggaagaaGaggaaggggaagaagaagaa	23	0	18	0	0	0	8	0	0	0	8	0	12	0	12	0	5	0	0	0	5	10	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr10:76788681G>T	ENST00000287239.4	+	18	4588	c.4099G>T	c.(4099-4101)Gag>Tag	p.E1367*	KAT6B_ENST00000372714.1_Nonsense_Mutation_p.E1075*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.E1075*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.E1075*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.E1184*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1367	Poly-Glu.				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)										agaggaagaagaggaagggga	0.443																																					p.E1367X													.	.			0			c.G4099T												46	45	46					10																	76788681		2203	4300	6503	SO:0001587	stop_gained	23522	exon18			GAAGAAGAGGAAG	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.4099G>T	10.37:g.76788681G>T	ENSP00000287239:p.Glu1367*		33	0	0		32	0.09	3	NM_012330	46	0	0	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Nonsense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.242012	0.79912	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	.	.	.	0.521	0.521	0.17046	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	.	.	.	.	.	.	.	X	1075;1075;1367;1075;1184	.	ENSP00000287239:E1367X	E	+	1	0	KAT6B	76458687	0.670000	0.27512	0.047000	0.18901	0.014000	0.08584	0.729000	0.26028	0.585000	0.29608	0.434000	0.28630	GAG			0.443	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048771.1		NM_012330		T	76788681	G	T	76788681	4	4	91	1	0	0	0	0	0	1	0	0	10121	943	33	3	4161	3	MYST4	10	76788681	Nonsense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	3666946	76788681	58746066	36	6389											
ZFYVE27	118813	mdanderson.org	37	chr10	99504637	99504637	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcagagaggtcgcctGtctcgtcccgaggccgtggc	5	7	15	14	4	1	1	0	0	1	1	4	4	2	1	4	3	1	1	4	3	0	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr10:99504637G>T	ENST00000393677.4	+	4	624	c.420G>T	c.(418-420)ctG>ctT	p.L140L	ZFYVE27_ENST00000370610.3_Silent_p.L42L|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000359980.3_Silent_p.L140L|ZFYVE27_ENST00000337540.7_Silent_p.L108L|ZFYVE27_ENST00000453958.2_Silent_p.L140L|ZFYVE27_ENST00000356257.4_Silent_p.L140L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	140					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)		GAGGTCGCCTGTCTCGTCCCG	0.592																																					p.L140L													.	.			0			c.G420T												39	33	35					10																	99504637		2202	4300	6502	SO:0001819	synonymous_variant	118813	exon3			TCGCCTGTCTCGT	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.420G>T	10.37:g.99504637G>T			20	0	0		46	0.07	3	NM_001002261	41	0	0	B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Silent	SNP	ENST00000393677.4	37	CCDS31263.1																																																																																					0.592	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000049745.2		NM_144588		T	99504637	G	T	99504637	2	4	91	1	0	0	0	0	0	0	0	1	17692	1364	48	3		3	ZFYVE27	10	99504637	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	22715956	99504637	36030110	37	6390											
KRTAP5-5	439915	bcgsc.ca	37	chr11	1651127	1651127	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggaggccgtggctcCggctgtgggggctgtggctc	1	9	21	10	2	0	0	0	0	0	0	2	1	1	1	2	8	0	5	2	8	0	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr11:1651127C>T	ENST00000399676.2	+	1	95	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	19						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)		gccgtggctccggctgtgggg	0.697																																					p.S19S													.	KRTAP5-5	86		0			c.C57T																																									SO:0001819	synonymous_variant	439915	exon1			TGGCTCCGGCTGT	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.57C>T	11.37:g.1651127C>T			95	0	0		105	0.07	7	NM_001001480	0		0	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																					0.697	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127919.1				T	1651127	C	T	1651127	2	4	91	1	0	0	0	0	0	0	0	1	8579	639	23	1		1	KRTAP5-5	11	1651127	Silent	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10		1651127	133355389	38	6391											
MRGPRE	116534	mdanderson.org	37	chr11	3249138	3249138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgggaggtctccctgacggCccccagctcagcctcgtctc	4	7	12	18	3	3	1	1	1	2	0	6	2	3	2	4	3	2	1	4	3	0	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr11:3249138C>T	ENST00000389832.5	-	2	1198	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MRGPRE_ENST00000436689.2_Missense_Mutation_p.A297T|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTGACGGCCCCCAGCTCA	0.721																																					p.A298T													.	.			0			c.G892A												5	7	6					11																	3249138		1794	3892	5686	SO:0001583	missense	116534	exon2			TGACGGCCCCCAG	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.892G>A	11.37:g.3249138C>T	ENSP00000374482:p.Ala298Thr		27	0	0		17	0.12	2	NM_001039165	0		0	Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37		.	.	.	.	.	.	.	.	.	.	c	11.22	1.574892	0.28092	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.38	0.191	0.15130	.	0.794104	0.09786	U	0.756032	T	0.23926	0.0579	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.20384	0.029	T	0.22906	-1.0203	9	0.49607	T	0.09	-1.5885	5.5259	0.16957	0.0:0.4269:0.4477:0.1253	.	297	Q86SM8	MRGRE_HUMAN	T	298;297	.	ENSP00000374482:A297T	A	-	1	0	MRGPRE	3205714	0.000000	0.05858	0.000000	0.03702	0.685000	0.39939	-3.610000	0.00415	-0.179000	0.10654	0.462000	0.41574	GCC			0.721	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000032346.5		XM_171536		T	3249138	C	T	3249138	3	4	91	1	0	0	0	0	1	0	0	0	9780	739	26	2	50	2	MRGPRE	11	3249138	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	1598011	3249138	131757378	39	6392											
SAAL1	113174	mdanderson.org	37	chr11	18127494	18127494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgaagagccagtgtttgCtgtagaccgtgctccctatg	7	10	12	12	3	0	2	0	0	0	2	1	3	1	2	4	0	3	4	4	0	3	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr11:18127494C>T	ENST00000524803.1	-	1	144	c.95G>A	c.(94-96)aGc>aAc	p.S32N	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.S32N|SAAL1_ENST00000529318.1_Missense_Mutation_p.S32N			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	32										breast(2)|large_intestine(5)|lung(8)	15						CCAGTGTTTGCTGTAGACCGT	0.672											OREG0020819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S32N													.	.			0			c.G95A												67	47	54					11																	18127494		2200	4292	6492	SO:0001583	missense	113174	exon1			TGTTTGCTGTAGA	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.95G>A	11.37:g.18127494C>T	ENSP00000432487:p.Ser32Asn		44	0	0	723	46	0.07	3	NM_138421	48	0	0	A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	CCDS31439.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.432434|5.432434	0.96150|0.96150	.|.	.|.	ENSG00000166788|ENSG00000166788	ENST00000532452|ENST00000524803;ENST00000300013;ENST00000529318;ENST00000530180	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66167|0.66167	0.2762|0.2762	M|M	0.76170|0.76170	2.325|2.325	0.51767|0.51767	D|D	0.999938|0.999938	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.997;0.997	T|T	0.68804|0.68804	-0.5312|-0.5312	5|10	.|0.87932	.|D	.|0	-10.1274|-10.1274	17.4532|17.4532	0.87599|0.87599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|32;32;32	.|E9PRZ1;G1UCX3;Q96ER3	.|.;.;SAAL1_HUMAN	T|N	25|32	.|ENSP00000432487:S32N;ENSP00000300013:S32N;ENSP00000432216:S32N;ENSP00000431489:S32N	.|ENSP00000300013:S32N	A|S	-|-	1|2	0|0	SAAL1|SAAL1	18084070|18084070	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	5.335000|5.335000	0.65929|0.65929	2.720000|2.720000	0.93068|0.93068	0.655000|0.655000	0.94253|0.94253	GCA|AGC			0.672	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000389728.1		NM_138421		T	18127494	C	T	18127494	3	4	91	1	0	0	0	0	1	0	0	0	13824	797	28	2	1377	2	SAAL1	11	18127494	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	14878356	18127494	116879022	40	6393											
NAT10	55226	mdanderson.org	37	chr11	34153768	34153768	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgtggcttctcactacaaGgtaactgcagctagcccttg	9	11	9	12	1	1	0	1	0	1	0	2	0	1	0	1	2	6	4	1	2	5	6			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr11:34153768G>T	ENST00000257829.3	+	15	1823	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	NAT10_ENST00000531159.2_Splice_Site_p.K467N|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	539						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)				CTCACTACAAGGTAACTGCAG	0.463																																					p.K539N													.	.			0			c.G1617T												155	151	152					11																	34153768		2202	4298	6500	SO:0001630	splice_region_variant	55226	exon15			CTACAAGGTAACT	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.1617+1G>T	11.37:g.34153768G>T			91	0	0		76	0.05	4	NM_024662	86	0	0	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453799	0.96223	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.49720	0.77;0.77	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85010	0.0905	10	0.87932	D	0	-34.0042	20.2963	0.98556	0.0:0.0:1.0:0.0	.	539	Q9H0A0	NAT10_HUMAN	N	539;467	ENSP00000257829:K539N;ENSP00000433011:K467N	ENSP00000257829:K539N	K	+	3	2	NAT10	34110344	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.869000	0.99810	2.813000	0.96785	0.655000	0.94253	AAG			0.463	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388693.1		NM_024662	Missense_Mutation	T	34153768	G	T	34153768	5	4	91	1	0	0	0	0	0	0	1	0	10190	1014	35	3	1671	3	NAT10	11	34153768	Splice_Site	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	16026274	34153768	100852748	41	6394											
TMEM132A	54972	mdanderson.org	37	chr11	60698031	60698031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagccgcccgcccagcccagCccacactctggactgccaag	8	3	9	21	2	1	0	0	0	1	0	1	1	1	1	6	1	4	0	6	1	1	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr11:60698031C>T	ENST00000453848.2	+	5	1074	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S	TMEM132A_ENST00000005286.4_Missense_Mutation_p.P306S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	306						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						CCCAGCCCAGCCCACACTCTG	0.612																																					p.P306S													.	.			0			c.C916T												89	96	94					11																	60698031		2203	4299	6502	SO:0001583	missense	54972	exon5			GCCCAGCCCACAC	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.916C>T	11.37:g.60698031C>T	ENSP00000405823:p.Pro306Ser		47	0	0		39	0.08	3	NM_017870	96	0	0	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425693	0.62733	.	.	ENSG00000006118	ENST00000544065;ENST00000444690;ENST00000453848;ENST00000005286	T;T;T	0.12147	2.71;2.88;2.88	5.4	4.49	0.54785	.	0.000000	0.64402	D	0.000006	T	0.25827	0.0629	L	0.59436	1.845	0.39060	D	0.960511	D;P;P;D	0.58620	0.983;0.873;0.767;0.97	P;P;B;P	0.54544	0.755;0.638;0.439;0.558	T	0.04961	-1.0915	10	0.87932	D	0	.	12.4202	0.55516	0.0:0.9211:0.0:0.0789	.	295;56;306;306	Q24JP5-3;Q24JP5-4;Q24JP5;Q24JP5-2	.;.;T132A_HUMAN;.	S	44;56;306;306	ENSP00000442754:P44S;ENSP00000405823:P306S;ENSP00000005286:P306S	ENSP00000005286:P306S	P	+	1	0	TMEM132A	60454607	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.696000	0.61774	1.432000	0.47375	-0.136000	0.14681	CCC			0.612	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000396352.1		NM_017870		T	60698031	C	T	60698031	3	4	91	1	0	0	0	0	1	0	0	0	16068	739	26	2	934	2	TMEM132A	11	60698031	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	26544263	60698031	74308485	42	6395											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65545364	65545364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacggaggtagtcccccGccaggggcagcacggcccag	7	2	15	17	3	0	0	0	0	0	0	1	1	1	1	5	5	1	3	5	5	1	1	rs375436485		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr11:65545364G>T	ENST00000532090.2	-	2	2810	c.2600C>A	c.(2599-2601)gCg>gAg	p.A867E		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	867					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GTAGTCCCCCGCCAGGGGCAG	0.711																																					p.A867E													.	AP5B1	40		0			c.C2600A												5	7	6					11																	65545364		1902	3995	5897	SO:0001583	missense	91056	exon2			TCCCCCGCCAGGG	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.2600C>A	11.37:g.65545364G>T	ENSP00000454303:p.Ala867Glu		61	0	0		58	0.05	3	NM_138368	11	0	0	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	ENST00000532090.2	37	CCDS58146.1																																																																																					0.711	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390636.2		NM_138368		T	65545364	G	T	65545364	3	4	91	1	0	0	0	0	1	0	0	0	4548	1087	38	1	40	1	DKFZp761E198	11	65545364	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	4847333	65545364	69461152	43	6396											
OR6X1	390260	mdanderson.org	37	chr11	123624888	123624888	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcaaaagacatgatagtGaggatcaagaactcggtggt	14	8	13	6	2	2	4	2	2	0	2	3	5	2	5	0	4	1	0	0	4	5	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr11:123624888G>T	ENST00000327930.2	-	1	365	c.339C>A	c.(337-339)ctC>ctA	p.L113L		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACATGATAGTGAGGATCAAGA	0.537																																					p.L113L													.	.			0			c.C339A												158	154	156					11																	123624888		2202	4299	6501	SO:0001819	synonymous_variant	390260	exon1			GATAGTGAGGATC	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.339C>A	11.37:g.123624888G>T			87	0	0		79	0.05	4	NM_001005188	0		0	B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	CCDS31695.1																																																																																					0.537	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387436.1		NM_001005188		T	123624888	G	T	123624888	2	4	91	1	0	0	0	0	0	0	0	1	11229	1277	45	3		3	OR6X1	11	123624888	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	58079524	123624888	11381628	44	6397											
GXYLT1	283464	hgsc.bcm.edu	37	chr12	42481617	42481617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctttggtgatctggcataacGatctcttacactttttgcta	8	17	7	9	1	2	1	0	1	2	0	3	2	2	1	0	2	3	2	0	2	3	6	rs75740340		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr12:42481617G>C	ENST00000398675.3	-	8	1526	c.1294C>G	c.(1294-1296)Cgt>Ggt	p.R432G	GXYLT1_ENST00000280876.6_Missense_Mutation_p.R401G	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	432					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTGGCATAACGATCTCTTACA	0.328																																					p.R432G													Q8IXV1_HUMAN,NS,carcinoma,+1,2	Q8IXV1_HUMAN	1	2	0			c.C1294G												105	93	97					12																	42481617		1836	4080	5916	SO:0001583	missense	283464	exon8			CATAACGATCTCT	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1294C>G	12.37:g.42481617G>C	ENSP00000381666:p.Arg432Gly		83	0	0		73	0.04	3	NM_173601	20	0	0	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.647203	0.00792	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	.	.	.	4.9	2.75	0.32379	.	0.707951	0.13008	N	0.421091	T	0.29093	0.0723	L	0.29908	0.895	0.09310	N	1	B;B	0.24721	0.043;0.11	B;B	0.27608	0.068;0.081	T	0.18209	-1.0344	9	0.25751	T	0.34	-7.8089	7.8107	0.29230	0.1594:0.0:0.6532:0.1874	.	401;432	Q4G148-2;Q4G148	.;GXLT1_HUMAN	G	432;401	.	ENSP00000280876:R401G	R	-	1	0	GXYLT1	40767884	0.003000	0.15002	0.006000	0.13384	0.029000	0.11900	0.908000	0.28545	1.214000	0.43395	-0.119000	0.15052	CGT	0.002		0.328	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403778.1		XM_290597		C	42481617	G	C	42481617	3	2	91	1	0	0	0	0	1	0	0	0	6918	1058	37	5	32	5	GXYLT1	12	42481617	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		42481617	91370278	45	6398											
KCNH3	23416	mdanderson.org	37	chr12	49943881	49943881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgcagagcctccctGacgagctgcgcgcagacatc	8	6	12	15	3	0	3	0	1	0	2	2	4	1	3	2	0	6	5	2	0	0	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr12:49943881G>T	ENST00000257981.6	+	10	1947	c.1687G>T	c.(1687-1689)Gac>Tac	p.D563Y		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	563					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GAGCCTCCCTGACGAGCTGCG	0.687																																					p.D563Y													.	.			0			c.G1687T												16	17	17					12																	49943881		2194	4284	6478	SO:0001583	missense	23416	exon10			CTCCCTGACGAGC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1687G>T	12.37:g.49943881G>T	ENSP00000257981:p.Asp563Tyr		19	0	0		33	0.09	3	NM_012284	16	0	0	Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939698	0.52972	.	.	ENSG00000135519	ENST00000257981	D	0.96745	-4.11	5.48	5.48	0.80851	Cyclic nucleotide-binding-like (1);	0.000000	0.50627	D	0.000104	D	0.96084	0.8724	L	0.50919	1.6	0.58432	D	0.999995	B	0.31503	0.326	B	0.43413	0.419	D	0.95198	0.8314	10	0.54805	T	0.06	.	17.2178	0.86949	0.0:0.0:1.0:0.0	.	563	Q9ULD8	KCNH3_HUMAN	Y	563	ENSP00000257981:D563Y	ENSP00000257981:D563Y	D	+	1	0	KCNH3	48230148	1.000000	0.71417	0.292000	0.24919	0.024000	0.10985	9.790000	0.99075	2.755000	0.94549	0.655000	0.94253	GAC			0.687	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404571.2		NM_012284		T	49943881	G	T	49943881	3	4	91	1	0	0	0	0	1	0	0	0	8048	1290	45	3	1725	3	KCNH3	12	49943881	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	7462264	49943881	83908014	46	6399											
SPRYD4	283377	broad.mit.edu	37	chr12	56862911	56862911	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaatatggcttggtgggAttggagcccaccaaggtggc	9	9	15	8	0	1	0	1	0	0	0	1	2	1	2	2	6	1	1	2	6	3	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr12:56862911A>G	ENST00000338146.5	+	2	249	c.174A>G	c.(172-174)ggA>ggG	p.G58G	MIP_ENST00000555551.1_5'UTR	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	58	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						GCTTGGTGGGATTGGAGCCCA	0.572																																					p.G58G													.	SPRYD4	13		0			c.A174G												45	50	48					12																	56862911		2203	4300	6503	SO:0001819	synonymous_variant	283377	exon2			GGTGGGATTGGAG	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.174A>G	12.37:g.56862911A>G			60	0.2166666667	13		63	0.16	10	NM_207344	49	0.14	7	A8K7A5	Silent	SNP	ENST00000338146.5	37	CCDS8920.1																																																																																					0.572	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_207344		G	56862911	A	G	56862911	2	3	91	1	0	0	0	0	0	0	0	1	15133	320	12	4		4	SPRYD4	12	56862911	Silent	SNP	A	TCGA-SN-A6IS-01A-11D-A435-10	6919030	56862911	76988984	47	6400											
ZFC3H1	196441	hgsc.bcm.edu;broad.mit.edu	37	chr12	72023401	72023405	+	Frame_Shift_Del	DEL	TTTCA	TTTCA	-																															gtacttactatgacctttacTttcattgatattgctaacaa																										TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	TTTCA	TTTCA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr12:72023401_72023405delTTTCA	ENST00000378743.3	-	19	4168_4172	c.3810_3814delTGAAA	c.(3808-3816)aatgaaagtfs	p.NES1270fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1270					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						TGACCTTTACTTTCATTGATATTGC	0.346																																					p.1271_1272del													.	ZFC3H1	172		0			c.3811_3815del																																									SO:0001589	frameshift_variant	196441	exon19			CTTTACTTTCATT	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.3810_3814delTGAAA	12.37:g.72023401_72023405delTTTCA	ENSP00000368017:p.Asn1270fs		48	0	0		72	0.14	10	NM_144982	17	0	0	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Del	DEL	ENST00000378743.3	37	CCDS41813.1																																																																																					0.346	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404751.1		NM_144982		-	72023405	TTTCA	-	72023401	7	5	91	1	0	1	0	1	0	0	0	0	17656	1609	56	0	2223	0	ZFC3H1	12	72023401	Frame_Shift_Del	DEL	TTTCA	TCGA-SN-A6IS-01A-11D-A435-10	15160490	72023401	61828494	48	6401											
CUX2	23316	mdanderson.org	37	chr12	111776097	111776097	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctatccccagggcagcgGctgtttggggaaagcatcct	7	8	12	14	1	0	0	0	0	0	0	2	1	2	1	5	4	2	4	5	4	2	2			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr12:111776097G>T	ENST00000261726.6	+	20	3358	c.3204G>T	c.(3202-3204)cgG>cgT	p.R1068R	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1068					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGGGCAGCGGCTGTTTGGGG	0.632																																					p.R1068R													CUX2,colon,carcinoma,+2,1	CUX2	2	1	0			c.G3204T												46	51	50					12																	111776097		1943	4144	6087	SO:0001819	synonymous_variant	23316	exon20			GCAGCGGCTGTTT	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3204G>T	12.37:g.111776097G>T			19	0	0		37	0.08	3	NM_015267	23	0	0	A7E2Y4	Silent	SNP	ENST00000261726.6	37	CCDS41837.1																																																																																					0.632	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404765.1		NM_015267		T	111776097	G	T	111776097	2	4	91	1	0	0	0	0	0	0	0	1	4067	1190	42	2		2	CUX2	12	111776097	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	39752696	111776097	22075798	49	6402											
RNF10	9921	broad.mit.edu	37	chr12	121004666	121004666	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcgagaatctacagcagTttcctgccttcaattcttat	9	14	5	13	1	3	1	1	0	2	1	5	2	4	1	3	0	3	2	3	0	4	5			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr12:121004666T>C	ENST00000325954.4	+	13	2385	c.1924T>C	c.(1924-1926)Ttt>Ctt	p.F642L	RNF10_ENST00000413266.2_Missense_Mutation_p.F647L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	642					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)					TCTACAGCAGTTTCCTGCCTT	0.453																																					p.F642L													.	RNF10	75		0			c.T1924C												108	105	106					12																	121004666		2203	4300	6503	SO:0001583	missense	9921	exon13			CAGCAGTTTCCTG	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.1924T>C	12.37:g.121004666T>C	ENSP00000322242:p.Phe642Leu		255	0	0		309	0.02	7	NM_014868	479	0.01	3	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609316	0.87258	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.87	5.87	0.94306	.	0.047703	0.85682	D	0.000000	T	0.45935	0.1367	M	0.69358	2.11	0.80722	D	1	P;D	0.69078	0.778;0.997	B;D	0.75020	0.397;0.985	T	0.40001	-0.9586	10	0.62326	D	0.03	.	16.279	0.82658	0.0:0.0:0.0:1.0	.	647;642	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	L	642;642;647;90;186	ENSP00000322242:F642L;ENSP00000415682:F647L;ENSP00000439221:F90L;ENSP00000439859:F186L	ENSP00000322242:F642L	F	+	1	0	RNF10	119489049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.991000	0.76232	2.239000	0.73571	0.523000	0.50628	TTT			0.453	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000401898.4				C	121004666	T	C	121004666	3	2	91	1	0	0	0	0	1	0	0	0	13445	1725	60	4	1974	4	RNF10	12	121004666	Missense_Mutation	SNP	T	TCGA-SN-A6IS-01A-11D-A435-10	9228569	121004666	12847229	50	6403											
PITPNM2	57605	ucsc.edu	37	chr12	123475099	123475099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtatactcactctgggcGatgctggatgccgtgtagct	6	12	13	10	2	2	0	1	0	1	0	2	2	2	1	1	3	4	4	1	3	3	3	rs376540906		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr12:123475099G>A	ENST00000542749.1	-	15	2625	c.2562C>T	c.(2560-2562)atC>atT	p.I854I	PITPNM2_ENST00000392428.1_Silent_p.I575I|PITPNM2_ENST00000280562.5_Silent_p.I902I|PITPNM2_ENST00000320201.4_Silent_p.I854I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	854	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				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)		CACTCTGGGCGATGCTGGATG	0.632																																					p.I854I													.	PITPNM2	105		0			c.C2562T												67	53	57					12																	123475099		2202	4300	6502	SO:0001819	synonymous_variant	57605	exon16			CTGGGCGATGCTG	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.2562C>T	12.37:g.123475099G>A			31	0	0		41	0.1	4	NM_020845	19	0	0	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																					0.632	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401342.1		NM_020845		A	123475099	G	A	123475099	2	1	91	1	0	0	0	0	0	0	0	1	11968	1048	37	1		1	PITPNM2	12	123475099	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	2470433	123475099	10376796	51	6404											
SFRS8	6433	mdanderson.org	37	chr12	132241078	132241078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagaagccaagtgatgctGgggaggatggcgcgcctgaa	10	5	17	9	3	0	3	0	2	0	1	0	6	0	5	3	4	2	1	3	4	3	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr12:132241078G>T	ENST00000261674.4	+	11	1750	c.1609G>T	c.(1609-1611)Ggg>Tgg	p.G537W	RP11-495K9.5_ENST00000537032.1_lincRNA|SFSWAP_ENST00000541286.1_Missense_Mutation_p.G537W	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	537					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAGTGATGCTGGGGAGGATGG	0.582																																					p.G537W													SFSWAP,colon,carcinoma,-1,1	SFSWAP	-1	1	0			c.G1609T												64	69	67					12																	132241078		2203	4300	6503	SO:0001583	missense	6433	exon11			GATGCTGGGGAGG	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1609G>T	12.37:g.132241078G>T	ENSP00000261674:p.Gly537Trp		32	0	0		46	0.07	3	NM_001261411	89	0	0	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112025	0.37242	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.24151	2.87;1.87;2.88	5.34	5.34	0.76211	.	0.847820	0.10940	N	0.617342	T	0.36468	0.0968	N	0.19112	0.55	0.26300	N	0.977989	D;D	0.59357	0.985;0.975	P;P	0.61592	0.891;0.498	T	0.38693	-0.9649	10	0.66056	D	0.02	-14.706	16.1819	0.81915	0.0:0.0:1.0:0.0	.	537;537	F5H6B8;Q12872	.;SFSWA_HUMAN	W	537;474;330;537	ENSP00000261674:G537W;ENSP00000443045:G330W;ENSP00000437738:G537W	ENSP00000261674:G537W	G	+	1	0	SFSWAP	130807031	0.074000	0.21230	0.229000	0.23960	0.010000	0.07245	1.726000	0.38085	2.505000	0.84491	0.561000	0.74099	GGG			0.582	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399276.1		NM_004592		T	132241078	G	T	132241078	3	4	91	1	0	0	0	0	1	0	0	0	14206	1348	47	3	1651	3	SFRS8	12	132241078	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	8765979	132241078	1610817	52	6405											
FLT1	2321	mdanderson.org	37	chr13	28883002	28883002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacatggaggtggcattcGgtaaaagttcttcaaaggtt	13	11	11	6	1	2	0	1	0	1	0	3	1	2	1	0	5	1	4	0	5	4	5	rs115595062	byFrequency	TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr13:28883002G>T	ENST00000282397.4	-	28	3949	c.3698C>A	c.(3697-3699)cCg>cAg	p.P1233Q	FLT1_ENST00000540678.1_Missense_Mutation_p.P451Q|FLT1_ENST00000543394.1_Missense_Mutation_p.P256Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1233					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|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 MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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 vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|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 receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTGGCATTCGGTAAAAGTTC	0.408																																					p.P1233Q													.	.			0			c.C3698A												111	97	102					13																	28883002		2203	4300	6503	SO:0001583	missense	2321	exon28			GCATTCGGTAAAA	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3698C>A	13.37:g.28883002G>T	ENSP00000282397:p.Pro1233Gln		94	0	0		60	0.07	4	NM_002019	14	0	0	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666029	0.67700	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.77877	-0.91;-1.13;-1.12	5.11	5.11	0.69529	.	0.551613	0.19907	N	0.103366	T	0.73001	0.3531	L	0.42245	1.32	0.80722	D	1	D	0.55385	0.971	B	0.43783	0.431	T	0.72724	-0.4207	10	0.33141	T	0.24	.	15.8181	0.78621	0.0:0.0:1.0:0.0	.	1233	P17948	VGFR1_HUMAN	Q	1233;256;451	ENSP00000282397:P1233Q;ENSP00000437841:P256Q;ENSP00000443311:P451Q	ENSP00000282397:P1233Q	P	-	2	0	FLT1	27781002	0.898000	0.30612	0.147000	0.22382	0.925000	0.55904	3.556000	0.53734	2.551000	0.86045	0.561000	0.74099	CCG			0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044322.1				T	28883002	G	T	28883002	3	4	91	1	0	0	0	0	1	0	0	0	5954	1116	39	1	330	1	FLT1	13	28883002	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		28883002	86286876	53	6406											
RFC3	5983	mdanderson.org	37	chr13	34540232	34540232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctcttacaggcatgtaaGgaggaatcaagaagctgtga	14	10	11	6	0	2	2	1	1	1	1	3	4	2	4	0	3	2	3	0	3	6	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr13:34540232G>T	ENST00000434425.1	+	9	998	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_181558.2	NP_853536.2	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	296					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|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)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AGGCATGTAAGGAGGAATCAA	0.378																																					p.K296N													RFC3_ENST00000434425,NS,carcinoma,0,1	RFC3_ENST00000434425	0	1	0			c.G888T												94	91	92					13																	34540232		1862	4100	5962	SO:0001583	missense	5983	exon9			ATGTAAGGAGGAA		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000434425.1:c.888G>T	13.37:g.34540232G>T	ENSP00000401001:p.Lys296Asn		33	0	0		46	0.07	3	NM_181558	4	0	0	C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000434425.1	37	CCDS45025.1	.	.	.	.	.	.	.	.	.	.	G	4.573	0.106456	0.08780	.	.	ENSG00000133119	ENST00000434425	T	0.41065	1.01	3.83	0.169	0.15017	.	.	.	.	.	T	0.21103	0.0508	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.26770	0.073	T	0.28073	-1.0055	9	0.29301	T	0.29	.	6.3133	0.21176	0.4339:0.0:0.5661:0.0	.	296	C9JU95	.	N	296	ENSP00000401001:K296N	ENSP00000401001:K296N	K	+	3	2	RFC3	33438232	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.214000	0.17541	-0.011000	0.14247	-0.150000	0.13652	AAG			0.378	RFC3-201	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_002915		T	34540232	G	T	34540232	3	4	91	1	0	0	0	0	1	0	0	0	13269	991	35	3	1118	3	RFC3	13	34540232	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	5657230	34540232	80629646	54	6407											
PCDH8	5100	mdanderson.org	37	chr13	53420855	53420855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgaacgtcgagttggcGcagcgtctcatagtcgaagc	9	8	14	10	6	1	0	1	0	1	0	4	4	1	0	0	1	4	2	0	1	3	2			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr13:53420855G>T	ENST00000377942.3	-	1	1920	c.1717C>A	c.(1717-1719)Cgc>Agc	p.R573S	PCDH8_ENST00000338862.4_Missense_Mutation_p.R573S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	573	Cadherin 5. {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)		TCGAGTTGGCGCAGCGTCTCA	0.662																																					p.R573S	GBM(36;25 841 9273 49207)												.	.			0			c.C1717A												15	15	15					13																	53420855		2184	4280	6464	SO:0001583	missense	5100	exon1			GTTGGCGCAGCGT	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.1717C>A	13.37:g.53420855G>T	ENSP00000367177:p.Arg573Ser		21	0	0		28	0.11	3	NM_002590	0		0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310458	0.40895	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.59502	0.26;0.26	4.08	4.08	0.47627	Cadherin (5);Cadherin-like (1);	0.000000	0.43416	D	0.000566	T	0.38799	0.1054	N	0.05259	-0.085	0.43657	D	0.996075	P;P	0.36162	0.484;0.54	B;B	0.40901	0.232;0.343	T	0.47275	-0.9130	10	0.87932	D	0	.	9.8687	0.41160	0.0:0.0:0.6338:0.3662	.	573;573	O95206-2;O95206	.;PCDH8_HUMAN	S	573;573;416	ENSP00000367177:R573S;ENSP00000341350:R573S	ENSP00000341350:R573S	R	-	1	0	PCDH8	52318856	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.467000	0.73547	2.106000	0.64143	0.511000	0.50034	CGC			0.662	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045108.2		NM_002590		T	53420855	G	T	53420855	3	4	91	1	0	0	0	0	1	0	0	0	11534	1087	38	1	1507	1	PCDH8	13	53420855	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	18880623	53420855	61749023	55	6408											
DIAPH3	81624	mdanderson.org	37	chr13	60565332	60565332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagcaaaagatgctgaaGaatagaaataaaatatccct	21	8	6	6	0	1	4	1	1	0	3	2	4	2	4	1	0	2	2	1	0	10	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr13:60565332G>T	ENST00000400324.4	-	12	1541	c.1321C>A	c.(1321-1323)Ctt>Att	p.L441I	DIAPH3_ENST00000400320.1_Missense_Mutation_p.L395I|DIAPH3_ENST00000377908.2_Missense_Mutation_p.L430I|DIAPH3_ENST00000400319.1_Missense_Mutation_p.L371I|DIAPH3_ENST00000267215.4_Missense_Mutation_p.L441I|DIAPH3_ENST00000400330.1_Missense_Mutation_p.L441I|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	441	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGATGCTGAAGAATAGAAATA	0.299																																					p.L441I													.	.			0			c.C1321A												85	86	86					13																	60565332		1804	4061	5865	SO:0001583	missense	81624	exon12			GCTGAAGAATAGA	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1321C>A	13.37:g.60565332G>T	ENSP00000383178:p.Leu441Ile		35	0	0		40	0.08	3	NM_001042517	15	0	0	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931854	0.92389	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.63	5.63	0.86233	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	H	0.94582	3.555	0.53688	D	0.999976	D;D;P	0.76494	0.999;0.993;0.939	D;D;D	0.87578	0.998;0.997;0.976	D	0.96489	0.9362	10	0.87932	D	0	.	19.6704	0.95910	0.0:0.0:1.0:0.0	.	178;178;441	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	I	441;441;430;395;371;430;371;395;441;178;441	ENSP00000383178:L441I;ENSP00000383184:L441I;ENSP00000367141:L430I;ENSP00000383173:L371I;ENSP00000383174:L395I;ENSP00000267215:L441I	ENSP00000267214:L178I	L	-	1	0	DIAPH3	59463333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.029000	0.76477	2.635000	0.89317	0.655000	0.94253	CTT			0.299	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045166.3		NM_001042517		T	60565332	G	T	60565332	3	4	91	1	0	0	0	0	1	0	0	0	4525	942	33	3	2348	3	DIAPH3	13	60565332	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	7144477	60565332	54604546	56	6409											
SYNE2	23224	mdanderson.org	37	chr14	64593514	64593514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggcctcgattacaacCgcagttaccaggtatgattc	11	10	9	11	2	0	1	0	1	0	0	2	2	0	1	3	2	4	4	3	2	5	4			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr14:64593514C>A	ENST00000344113.4	+	73	14118	c.13906C>A	c.(13906-13908)Cgc>Agc	p.R4636S	SYNE2_ENST00000554584.1_Missense_Mutation_p.R4587S|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1270S|SYNE2_ENST00000358025.3_Missense_Mutation_p.R4636S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.R1021S|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1021S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4636					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)		CGATTACAACCGCAGTTACCA	0.478																																					p.R4636S													SYNE2,NS,carcinoma,-2,1	SYNE2	-2	1	0			c.C13906A												75	65	68					14																	64593514		2203	4300	6503	SO:0001583	missense	23224	exon73			TACAACCGCAGTT	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.13906C>A	14.37:g.64593514C>A	ENSP00000341781:p.Arg4636Ser		24	0	0		35	0.09	3	NM_015180	30	0	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	1.686	-0.505299	0.04261	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55234	1.31;1.31;1.31;0.53;1.31;1.31	5.76	1.48	0.22813	.	1.071720	0.07217	N	0.860236	T	0.33644	0.0870	N	0.24115	0.695	0.09310	N	1	B;B;B	0.12630	0.0;0.006;0.004	B;B;B	0.11329	0.001;0.006;0.005	T	0.22906	-1.0203	10	0.08599	T	0.76	.	6.391	0.21587	0.2193:0.5455:0.0:0.2352	.	1021;4636;4636	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	S	4636;1021;4636;4587;4587;1270;1021	ENSP00000350719:R4636S;ENSP00000349969:R1021S;ENSP00000341781:R4636S;ENSP00000452570:R4587S;ENSP00000450831:R1270S;ENSP00000378249:R1021S	ENSP00000261678:R4587S	R	+	1	0	SYNE2	63663267	0.037000	0.19845	0.002000	0.10522	0.004000	0.04260	0.787000	0.26858	0.096000	0.17463	-1.814000	0.00607	CGC			0.478	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276994.2		NM_182914		A	64593514	C	A	64593514	3	1	91	1	0	0	0	0	1	0	0	0	15469	652	23	1	14192	1	SYNE2	14	64593514	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10		64593514	42756026	57	6410											
CCNK	8812	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	99959052	99959052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattcaagcccttcagtaaCttcagcaaacctggaccaca	15	8	5	13	0	3	0	3	0	0	0	3	1	3	1	3	1	4	2	3	1	4	4			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr14:99959052C>G	ENST00000389879.5	+	2	161	c.38C>G	c.(37-39)aCt>aGt	p.T13S	CCNK_ENST00000555049.1_Missense_Mutation_p.T13S|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	13					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CCTTCAGTAACTTCAGCAAAC	0.413																																					p.T13S													.	.			0			c.C38G												66	63	64					14																	99959052		1889	4116	6005	SO:0001583	missense	8812	exon2			CAGTAACTTCAGC	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.38C>G	14.37:g.99959052C>G	ENSP00000374529:p.Thr13Ser		143	0	0		139	0.17	23	NM_001099402	131	0.2	26	Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	C	5.699	0.313561	0.10789	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049;ENST00000555842	T;T;T;T	0.40756	2.29;2.04;2.33;1.02	6.16	5.27	0.74061	Cyclin-like (1);	0.269970	0.36665	N	0.002475	T	0.22936	0.0554	N	0.14661	0.345	0.22066	N	0.99938	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.12578	-1.0542	10	0.08179	T	0.78	-7.9123	11.6561	0.51320	0.1294:0.804:0.0:0.0666	.	13;13	O75909;O75909-2	CCNK_HUMAN;.	S	13	ENSP00000374529:T13S;ENSP00000450792:T13S;ENSP00000452307:T13S;ENSP00000450440:T13S	ENSP00000216279:T13S	T	+	2	0	CCNK	99028805	0.990000	0.36364	0.984000	0.44739	0.998000	0.95712	3.165000	0.50778	2.937000	0.99478	0.650000	0.86243	ACT			0.413	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413721.1				G	99959052	C	G	99959052	3	3	91	1	0	0	0	0	1	0	0	0	2932	565	20	5	40	5	CCNK	14	99959052	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	35365538	99959052	7390488	58	6411											
CD276	80381	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	73995180	73995180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggggacacggtgacCatcacgtgctccagctacca	9	5	12	15	3	1	1	1	1	0	0	2	2	2	2	4	4	3	2	4	4	1	1	rs146911233	byFrequency	TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr15:73995180C>T	ENST00000318443.5	+	4	788	c.486C>T	c.(484-486)acC>acT	p.T162T	CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000537340.2_Silent_p.T16T|CD276_ENST00000561213.1_Silent_p.T162T	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	162	Ig-like C2-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ACACGGTGACCATCACGTGCT	0.647																																					p.T162T													.	.			0			c.C486T												86	77	80					15																	73995180		2198	4297	6495	SO:0001819	synonymous_variant	80381	exon4			GGTGACCATCACG	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.486C>T	15.37:g.73995180C>T			118	0	0		125	0.18	23	NM_001024736	138	0.17	24	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Silent	SNP	ENST00000318443.5	37	CCDS32288.1																																																																																					0.647	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268979.1		NM_025240		T	73995180	C	T	73995180	2	4	91	1	0	0	0	0	0	0	0	1	2994	581	21	3		3	CD276	15	73995180	Silent	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10		73995180	28536212	59	6412											
PRR25	388199	mdanderson.org	37	chr16	863659	863659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catctggctggtggagcccgGggaggccgcccaggaccctg	5	5	17	14	2	1	0	0	0	1	0	1	3	1	3	4	7	1	1	4	7	0	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr16:863659G>T	ENST00000301698.1	+	3	1007	c.1007G>T	c.(1006-1008)gGg>gTg	p.G336V		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	336										large_intestine(1)|lung(1)|skin(1)	3						GTGGAGCCCGGGGAGGCCGCC	0.766																																					p.G336V													.	.			0			c.G1007T												5	5	5					16																	863659		1831	3970	5801	SO:0001583	missense	388199	exon3			AGCCCGGGGAGGC	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.1007G>T	16.37:g.863659G>T	ENSP00000301698:p.Gly336Val		13	0	0		20	0.1	2	NM_001013638	0		0		Missense_Mutation	SNP	ENST00000301698.1	37	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	G	8.381	0.837511	0.16891	.	.	ENSG00000167945	ENST00000301698	T	0.46063	0.88	0.84	0.84	0.18912	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	P	0.41498	0.752	B	0.30105	0.111	T	0.11665	-1.0578	9	0.87932	D	0	.	4.972	0.14121	0.0:0.0:1.0:0.0	.	336	Q96S07	PRR25_HUMAN	V	336	ENSP00000301698:G336V	ENSP00000301698:G336V	G	+	2	0	PRR25	803660	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.129000	0.10515	0.728000	0.32382	0.407000	0.27541	GGG			0.766	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440563.1		NM_001013638		T	863659	G	T	863659	3	4	91	1	0	0	0	0	1	0	0	0	12617	1232	43	3	1017	3	PRR25	16	863659	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		863659	89491094	60	6413											
TELO2	9894	mdanderson.org	37	chr16	1550145	1550145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctggccatggacagccagCggcgcccgctcctgctgcag	6	6	13	16	3	1	0	0	0	1	0	2	1	2	1	4	3	4	3	4	3	0	0	rs140327619		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr16:1550145C>T	ENST00000262319.6	+	7	1261	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	328					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGACAGCCAGCGGCGCCCGCT	0.687																																					p.R328W													.	.			0			c.C982T								TRP/ARG	1,4381		0,1,2190	14	15	15		982	5	1	16	dbSNP_134	15	0,8576		0,0,4288	no	missense	TELO2	NM_016111.3	101	0,1,6478	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	328/838	1550145	1,12957	2191	4288	6479	SO:0001583	missense	9894	exon7			AGCCAGCGGCGCC	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.982C>T	16.37:g.1550145C>T	ENSP00000262319:p.Arg328Trp		36	0	0		33	0.09	3	NM_016111	70	0	0	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.388485	0.82902	2.28E-4	0.0	ENSG00000100726	ENST00000262319	D	0.85339	-1.97	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.91600	0.7346	M	0.78637	2.42	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.91526	0.5238	10	0.46703	T	0.11	-39.8052	13.8505	0.63494	0.0:1.0:0.0:0.0	.	328	Q9Y4R8	TELO2_HUMAN	W	328	ENSP00000262319:R328W	ENSP00000262319:R328W	R	+	1	2	TELO2	1490146	0.998000	0.40836	1.000000	0.80357	0.941000	0.58515	4.972000	0.63756	2.344000	0.79699	0.651000	0.88453	CGG	0		0.687	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103602.2		NM_016111		T	1550145	C	T	1550145	3	4	91	1	0	0	0	0	1	0	0	0	15780	759	27	1	1004	1	TELO2	16	1550145	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	686486	1550145	88804608	61	6414											
RFWD3	55159	broad.mit.edu	37	chr16	74660394	74660394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagattggatttccagtGtcatccagtcggtaggacat	10	11	12	8	1	1	1	1	0	0	1	4	4	3	3	2	3	1	2	2	3	1	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr16:74660394G>T	ENST00000361070.4	-	12	2125	c.2028C>A	c.(2026-2028)gaC>gaA	p.D676E	RFWD3_ENST00000571750.1_Missense_Mutation_p.D676E	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	676					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GATTTCCAGTGTCATCCAGTC	0.458																																					p.D676E													.	RFWD3	49		0			c.C2028A												154	143	147					16																	74660394		2198	4300	6498	SO:0001583	missense	55159	exon12			TCCAGTGTCATCC	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.2028C>A	16.37:g.74660394G>T	ENSP00000354361:p.Asp676Glu		137	0	0		163	0.03	5	NM_018124	199	0	0	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	6.036	0.375088	0.11409	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.17370	2.28	5.49	-9.19	0.00685	.	0.574961	0.19160	N	0.121209	T	0.07234	0.0183	N	0.22421	0.69	0.09310	N	1	B	0.18741	0.03	B	0.12156	0.007	T	0.35301	-0.9794	10	0.14656	T	0.56	-15.5519	11.6707	0.51399	0.1188:0.1377:0.6569:0.0866	.	676	Q6PCD5	RFWD3_HUMAN	E	676;165	ENSP00000354361:D676E	ENSP00000354361:D676E	D	-	3	2	RFWD3	73217895	0.006000	0.16342	0.000000	0.03702	0.084000	0.17831	-0.060000	0.11712	-1.118000	0.02961	0.561000	0.74099	GAC			0.458	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436506.2		NM_018124		T	74660394	G	T	74660394	3	4	91	1	0	0	0	0	1	0	0	0	13284	1368	48	3	304	3	RFWD3	16	74660394	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	73110249	74660394	15694359	62	6415											
ACCN1	40	mdanderson.org	37	chr17	31618506	31618506	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctggtggcccaggcGgtccatgaaggcggcgctga	6	6	16	13	3	0	2	0	2	0	0	2	2	2	2	3	6	1	2	3	6	1	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr17:31618506G>T	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Missense_Mutation_p.R210S	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TGGCCCAGGCGGTCCATGAAG	0.692																																					p.R210S													.	.			0			c.C628A												28	30	29					17																	31618506		2194	4284	6478	SO:0001627	intron_variant	40	exon1			CCAGGCGGTCCAT	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179421C>A	17.37:g.31618506G>T			43	0	0		44	0.07	3	NM_183377	3	0	0	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159509	0.57368	.	.	ENSG00000108684	ENST00000225823	T	0.65364	-0.15	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.76499	0.3996	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75453	-0.3312	10	0.35671	T	0.21	-9.8882	10.34	0.43873	0.0:0.0:0.8041:0.1959	.	210	E9PBX2	.	S	210	ENSP00000225823:R210S	ENSP00000225823:R210S	R	-	1	0	ACCN1	28642619	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.017000	0.64047	1.205000	0.43262	0.313000	0.20887	CGC			0.692	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447552.1		NM_183377, NM_001094		T	31618506	G	T	31618506	1	4	91	0	1	0	0	0	0	0	0	0	128	1116	39	1		1	ACCN1	17	31618506	Intron	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		31618506	49576704	63	6416											
KRT33B	3884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39525812	39525812	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagctggccaggcggtcgTtcaggaactgcatagtctcc	7	9	14	11	2	2	0	1	0	1	0	4	1	2	1	2	5	3	4	2	5	3	3	rs199518913	byFrequency	TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr17:39525812T>C	ENST00000251646.3	-	1	240	c.191A>G	c.(190-192)aAc>aGc	p.N64S		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	64	Coil 1A.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CAGGCGGTCGTTCAGGAACTG	0.627													T|||	2	0.000399361	0	0	5008	,	,		19127	0.002		0	False		,,,				2504	0				p.N64S													KRT33B,NS,carcinoma,+1,3	KRT33B	1	3	0			c.A191G												72	72	72					17																	39525812		2203	4297	6500	SO:0001583	missense	3884	exon1			CGGTCGTTCAGGA	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.191A>G	17.37:g.39525812T>C	ENSP00000251646:p.Asn64Ser		161	0	0		166	0.27	44	NM_002279	0		0	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	23.0	4.365487	0.82463	.	.	ENSG00000131738	ENST00000251646	D	0.96587	-4.06	4.26	4.26	0.50523	Filament (1);	0.000000	0.64402	D	0.000001	D	0.98773	0.9587	H	0.98199	4.17	0.39290	D	0.964714	D	0.89917	1.0	D	0.97110	1.0	D	0.99898	1.1153	10	0.87932	D	0	.	12.9995	0.58667	0.0:0.0:0.0:1.0	.	64	Q14525	KT33B_HUMAN	S	64	ENSP00000251646:N64S	ENSP00000251646:N64S	N	-	2	0	KRT33B	36779338	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	6.000000	0.70678	1.915000	0.55452	0.528000	0.53228	AAC	0		0.627	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257292.1		NM_002279		C	39525812	T	C	39525812	3	2	91	1	0	0	0	0	1	0	0	0	8485	1725	60	4	1051	4	KRT33B	17	39525812	Missense_Mutation	SNP	T	TCGA-SN-A6IS-01A-11D-A435-10	7907306	39525812	41669398	64	6417											
RGS9	8787	mdanderson.org	37	chr17	63221447	63221447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctcctaaggcccgcatgGctctgtccttcagcaggttt	5	11	9	16	1	2	0	1	0	1	0	4	0	4	0	5	3	1	4	5	3	1	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr17:63221447G>T	ENST00000262406.9	+	18	1802	c.1735G>T	c.(1735-1737)Gct>Tct	p.A579S	RGS9_ENST00000449996.3_Missense_Mutation_p.A576S|RGS9_ENST00000443584.3_Missense_Mutation_p.A576S	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	579					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGCCCGCATGGCTCTGTCCTT	0.677																																					p.A579S													RGS9,NS,carcinoma,0,1	RGS9	0	1	0			c.G1735T												74	78	77					17																	63221447		1936	4127	6063	SO:0001583	missense	8787	exon18			CGCATGGCTCTGT	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1735G>T	17.37:g.63221447G>T	ENSP00000262406:p.Ala579Ser		35	0	0		30	0.1	3	NM_003835	0		0	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189412	0.57909	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.39056	1.13;1.1	4.76	2.67	0.31697	.	0.206528	0.39834	N	0.001260	T	0.41050	0.1142	L	0.55481	1.735	0.38215	D	0.940595	B;P;P	0.48407	0.025;0.91;0.86	B;B;P	0.44561	0.014;0.388;0.453	T	0.49254	-0.8959	10	0.72032	D	0.01	.	11.5591	0.50766	0.0:0.1357:0.7233:0.141	.	579;579;576	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	S	579;576	ENSP00000262406:A579S;ENSP00000396329:A576S	ENSP00000262406:A579S	A	+	1	0	RGS9	60651909	0.983000	0.35010	0.007000	0.13788	0.996000	0.88848	1.859000	0.39418	0.628000	0.30357	0.561000	0.74099	GCT			0.677	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000445885.1		NM_003835		T	63221447	G	T	63221447	3	4	91	1	0	0	0	0	1	0	0	0	13336	1203	42	2	1860	2	RGS9	17	63221447	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	23695635	63221447	17973763	65	6418											
LPIN2	9663	mdanderson.org	37	chr18	2931429	2931429	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggccactgcctggaaccGggctccgattcactgtggac	6	8	13	14	3	1	0	1	0	0	0	3	3	2	2	4	4	2	1	4	4	1	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr18:2931429G>T	ENST00000261596.4	-	9	1519	c.1281C>A	c.(1279-1281)ccC>ccA	p.P427P		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	427					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCCTGGAACCGGGCTCCGATT	0.567																																					p.P427P													.	.			0			c.C1281A												38	27	31					18																	2931429		2202	4300	6502	SO:0001819	synonymous_variant	9663	exon9			GGAACCGGGCTCC	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1281C>A	18.37:g.2931429G>T			21	0	0		33	0.09	3	NM_014646	35	0	0	A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	CCDS11829.1																																																																																					0.567	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254363.2		NM_014646		T	2931429	G	T	2931429	2	4	91	1	0	0	0	0	0	0	0	1	8935	1103	39	1		1	LPIN2	18	2931429	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		2931429	75145819	66	6419											
ARID3A	1820	mdanderson.org	37	chr19	932484	932484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggaggaggaggaggaGgattacgaggatgaggagga	14	4	22	1	1	0	2	0	2	0	0	0	13	0	11	0	9	1	0	0	9	1	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr19:932484G>T	ENST00000263620.3	+	3	762	c.435G>T	c.(433-435)gaG>gaT	p.E145D		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	145	Acidic.|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)		aggaggaggaggattacgagg	0.657																																					p.E145D	Pancreas(29;54 1022 32760 50921)												.	.			0			c.G435T												13	11	12					19																	932484		2188	4276	6464	SO:0001583	missense	1820	exon3			GGAGGAGGATTAC	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.435G>T	19.37:g.932484G>T	ENSP00000263620:p.Glu145Asp		34	0	0		52	0.08	4	NM_005224	11	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.358116	0.01245	.	.	ENSG00000116017	ENST00000263620	T	0.09723	2.95	3.66	-5.32	0.02722	.	2115.840000	0.01081	U	0.004984	T	0.07369	0.0186	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36261	-0.9755	10	0.12766	T	0.61	.	7.8841	0.29640	0.0:0.209:0.2856:0.5054	.	145	Q99856	ARI3A_HUMAN	D	145	ENSP00000263620:E145D	ENSP00000263620:E145D	E	+	3	2	ARID3A	883484	0.028000	0.19301	0.181000	0.23098	0.381000	0.30169	-1.319000	0.02702	-0.259000	0.09432	0.457000	0.33378	GAG			0.657	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458219.1		NM_005224		T	932484	G	T	932484	3	4	91	1	0	0	0	0	1	0	0	0	916	991	35	3	441	3	ARID3A	19	932484	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		932484	58196499	67	6420											
REEP6	92840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1496326	1496326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcccaggccctggaacGgggctctcatgctgtatcag	6	9	13	13	1	2	0	2	0	1	0	4	1	3	1	2	5	2	4	2	5	2	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr19:1496326G>T	ENST00000233596.3	+	4	495	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	131					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)		GCCCTGGAACGGGGCTCTCAT	0.662																																					p.G131W													.	.			0			c.G391T												78	68	71					19																	1496326		2201	4300	6501	SO:0001583	missense	92840	exon4			TGGAACGGGGCTC	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	ENST00000233596.3:c.391G>T	19.37:g.1496326G>T	ENSP00000233596:p.Gly131Trp		49	0	0		54	0.11	6	NM_138393	268	0	0	B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	CCDS12070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.486211|4.486211	0.84854|0.84854	.|.	.|.	ENSG00000115255|ENSG00000115255	ENST00000233596;ENST00000395479|ENST00000395484	D|.	0.97455|.	-4.39|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|.	.|.	.|.	.|.	D|D	0.91395|0.91395	0.7285|0.7285	H|H	0.99525|0.99525	4.61|4.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.95063|0.95063	0.8197|0.8197	9|6	0.87932|0.62326	D|D	0|0.03	-7.1936|-7.1936	17.2553|17.2553	0.87053|0.87053	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	131|.	Q96HR9|.	REEP6_HUMAN|.	W|L	131|198	ENSP00000233596:G131W|.	ENSP00000233596:G131W|ENSP00000378865:R198L	G|R	+|+	1|2	0|0	REEP6|REEP6	1447326|1447326	1.000000|1.000000	0.71417|0.71417	0.606000|0.606000	0.28943|0.28943	0.010000|0.010000	0.07245|0.07245	7.598000|7.598000	0.82745|0.82745	2.318000|2.318000	0.78349|0.78349	0.552000|0.552000	0.68991|0.68991	GGG|CGG			0.662	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449623.1		NM_138393		T	1496326	G	T	1496326	3	4	91	1	0	0	0	0	1	0	0	0	13232	1116	39	1	405	1	REEP6	19	1496326	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	563842	1496326	57632657	68	6421											
AMH	268	hgsc.bcm.edu;broad.mit.edu	37	chr19	2249483	2249484	+	Frame_Shift_Del	DEL	AA	AA	-																															ctggcctccaggcagcccacAagagcctctgtgcctggtgg																										TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	AA	AA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr19:2249483_2249484delAA	ENST00000221496.4	+	1	174_175	c.152_153delAA	c.(151-153)caafs	p.Q51fs	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	51					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		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)		GGCAGCCCACAAGAGCCTCTGT	0.663									Persistant Mullerian Duct Syndrome (type I and II)																												p.51_51del													.	AMH	12		0			c.151_152del																																									SO:0001589	frameshift_variant	268	exon1	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	GCCCACAAGAGCC	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"Endogenous ligands"	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.152_153delAA	19.37:g.2249483_2249484delAA	ENSP00000221496:p.Gln51fs		24	0	0		39	0.26	10	NM_000479	18	0.44	8	O75246|Q6GTN3	Frame_Shift_Del	DEL	ENST00000221496.4	37	CCDS12085.1																																																																																					0.663	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451276.3		NM_000479		-	2249484	AA	-	2249483	7	5	91	1	0	1	0	1	0	0	0	0	572	130	5	0	154	0	AMH	19	2249483	Frame_Shift_Del	DEL	AA	TCGA-SN-A6IS-01A-11D-A435-10	753157	2249483	56879500	69	6422											
YIPF2	78992	bcgsc.ca;mdanderson.org	37	chr19	11038590	11038590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcgcttctgctggtggtgGctgcatctggggtgtcagcc	3	12	16	10	1	3	0	1	0	2	0	4	1	3	0	1	5	3	4	1	5	0	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr19:11038590G>A	ENST00000586748.1	-	3	249	c.77C>T	c.(76-78)gCc>gTc	p.A26V	YIPF2_ENST00000590329.1_Missense_Mutation_p.A26V|YIPF2_ENST00000253031.2_Missense_Mutation_p.A26V|C19orf52_ENST00000270502.6_5'Flank			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	26						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GCTGGTGGTGGCTGCATCTGG	0.597																																					p.A26V													.	YIPF2	13		0			c.C77T												94	93	93					19																	11038590		2203	4300	6503	SO:0001583	missense	78992	exon3			GTGGTGGCTGCAT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.77C>T	19.37:g.11038590G>A	ENSP00000466055:p.Ala26Val		92	0	0		102	0.05	5	NM_024029	271	0	0		Missense_Mutation	SNP	ENST00000586748.1	37	CCDS12251.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053505	0.55218	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.78	1.55	0.23275	.	0.636404	0.16173	N	0.226187	T	0.31231	0.0790	L	0.43152	1.355	0.09310	N	1	B	0.28713	0.22	B	0.21708	0.036	T	0.17167	-1.0378	9	0.52906	T	0.07	-16.622	8.5612	0.33511	0.2553:0.0:0.7447:0.0	.	26	Q9BWQ6	YIPF2_HUMAN	V	26	.	ENSP00000253031:A26V	A	-	2	0	YIPF2	10899590	0.495000	0.26051	0.001000	0.08648	0.819000	0.46315	3.578000	0.53892	0.251000	0.21505	0.655000	0.94253	GCC			0.597	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453045.1		NM_024029		A	11038590	G	A	11038590	3	1	91	1	0	0	0	0	1	0	0	0	17502	1203	42	2	901	2	YIPF2	19	11038590	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	8789107	11038590	48090393	70	6423											
RASAL3	64926	mdanderson.org	37	chr19	15574979	15574979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacccgacggaatatcgagCgaggggctggctgggtgctg	7	6	19	9	4	0	0	0	0	0	0	1	5	0	2	1	6	2	3	1	6	2	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr19:15574979C>T	ENST00000343625.7	-	2	276	c.191G>A	c.(190-192)cGc>cAc	p.R64H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	64					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAATATCGAGCGAGGGGCTGG	0.677																																					p.R64H													.	.			0			c.G191A												18	21	20					19																	15574979		1968	4152	6120	SO:0001583	missense	64926	exon2			ATCGAGCGAGGGG		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.191G>A	19.37:g.15574979C>T	ENSP00000341905:p.Arg64His		45	0	0		44	0.07	3	NM_022904	25	0	0	Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064832	0.55432	.	.	ENSG00000105122	ENST00000343625	T	0.34072	1.38	4.11	4.11	0.48088	.	0.000000	0.29653	U	0.011559	T	0.54919	0.1888	M	0.64997	1.995	0.30063	N	0.81075	D	0.76494	0.999	D	0.76071	0.987	T	0.56013	-0.8049	10	0.72032	D	0.01	.	12.5683	0.56322	0.0:1.0:0.0:0.0	.	64	Q86YV0	RASL3_HUMAN	H	64	ENSP00000341905:R64H	ENSP00000341905:R64H	R	-	2	0	RASAL3	15435979	0.922000	0.31269	0.900000	0.35374	0.140000	0.21249	2.290000	0.43531	2.232000	0.73038	0.462000	0.41574	CGC			0.677	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461331.3		NM_022904		T	15574979	C	T	15574979	3	4	91	1	0	0	0	0	1	0	0	0	13088	768	27	1	2912	1	RASAL3	19	15574979	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	4536389	15574979	43554004	71	6424											
GLT25D1	79709	mdanderson.org	37	chr19	17688822	17688822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgctgcctggctaccGggacccctaccacggccggc	6	5	12	18	3	0	1	0	0	0	1	0	2	0	2	7	4	4	2	7	4	2	2	rs372215750		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr19:17688822G>A	ENST00000252599.4	+	9	1310	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	397					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CCTGGCTACCGGGACCCCTAC	0.642																																					p.R397Q													.	.			0			c.G1190A							G	GLN/ARG	0,4406		0,0,2203	47	45	46		1190	0.1	1	19		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLT25D1	NM_024656.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	397/623	17688822	1,13005	2203	4300	6503	SO:0001583	missense	79709	exon9			GCTACCGGGACCC	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1190G>A	19.37:g.17688822G>A	ENSP00000252599:p.Arg397Gln		60	0	0		44	0.07	3	NM_024656	207	0	0	Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	2.479	-0.320186	0.05386	0.0	1.16E-4	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.76839	-1.05	5.03	0.0504	0.14293	.	0.697259	0.14708	N	0.303110	T	0.50718	0.1632	N	0.11364	0.135	0.30035	N	0.813112	B;B	0.21821	0.002;0.061	B;B	0.13407	0.005;0.009	T	0.42799	-0.9430	10	0.08381	T	0.77	-21.8634	6.7112	0.23278	0.5985:0.0:0.4015:0.0	.	125;397	E9PC06;Q8NBJ5	.;GT251_HUMAN	Q	125;397	ENSP00000252599:R397Q	ENSP00000252599:R397Q	R	+	2	0	GLT25D1	17549822	0.000000	0.05858	0.997000	0.53966	0.307000	0.27823	0.171000	0.16685	0.175000	0.19841	-0.657000	0.03884	CGG			0.642	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464216.1		NM_024656		A	17688822	G	A	17688822	3	1	91	1	0	0	0	0	1	0	0	0	6480	1116	39	1	1224	1	GLT25D1	19	17688822	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	2113843	17688822	41440161	72	6425											
MYBPC2	4606	broad.mit.edu	37	chr19	50955169	50955169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggaagacctcagagaatgCgattgtggttgtggctggaa	10	9	17	5	1	1	2	1	0	0	2	1	6	1	4	1	5	1	2	1	5	3	2	rs11879768	byFrequency	TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr19:50955169C>T	ENST00000357701.5	+	16	1709	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	553	Ig-like C2-type 5.				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)		TCAGAGAATGCGATTGTGGTT	0.592													c|||	17	0.00339457	0.0121	0.0014	5008	,	,		16105	0		0	False		,,,				2504	0				p.A553V													.	MYBPC2	103		0			c.C1658T							C	VAL/ALA	29,3935		1,27,1954	48	55	53		1658	3.2	0	19	dbSNP_120	53	3,8317		0,3,4157	yes	missense	MYBPC2	NM_004533.3	64	1,30,6111	TT,TC,CC		0.0361,0.7316,0.2605	benign	553/1142	50955169	32,12252	1982	4160	6142	SO:0001583	missense	4606	exon16			AGAATGCGATTGT		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.1658C>T	19.37:g.50955169C>T	ENSP00000350332:p.Ala553Val		180	0	0		234	0.02	4	NM_004533	3	0	0	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	c	13.61	2.289404	0.40494	0.007316	3.61E-4	ENSG00000086967	ENST00000357701	T	0.67345	-0.26	3.15	3.15	0.36227	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.218410	0.07080	U	0.836961	T	0.31199	0.0789	N	0.05230	-0.09	0.09310	N	0.999993	B	0.10296	0.003	B	0.09377	0.004	T	0.09509	-1.0671	10	0.23891	T	0.37	.	13.5581	0.61773	0.0:1.0:0.0:0.0	rs11879768;rs11879768	553	Q14324	MYPC2_HUMAN	V	553	ENSP00000350332:A553V	ENSP00000350332:A553V	A	+	2	0	MYBPC2	55646981	0.008000	0.16893	0.008000	0.14137	0.837000	0.47467	1.879000	0.39618	1.778000	0.52293	0.431000	0.28591	GCG			0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464751.1		NM_004533		T	50955169	C	T	50955169	3	4	91	1	0	0	0	0	1	0	0	0	10028	768	27	1	1720	1	MYBPC2	19	50955169	Missense_Mutation	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	33266347	50955169	8173814	73	6426											
KLK2	3817	bcgsc.ca	37	chr19	51376760	51376760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttctctccatcgccttgTctgtggggtgcactggtgag	3	14	14	10	1	2	1	0	1	2	0	5	1	3	1	2	4	1	2	2	4	0	2			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr19:51376760T>C	ENST00000325321.3	+	1	256	c.31T>C	c.(31-33)Tct>Cct	p.S11P	KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Missense_Mutation_p.S11P|KLK2_ENST00000597509.1_Intron			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	11					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CATCGCCTTGTCTGTGGGGTG	0.612			T	ETV4	prostate																																p.S11P				Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	.	KLK2	66		0			c.T31C												73	56	62					19																	51376760		2203	4300	6503	SO:0001583	missense	3817	exon1			GCCTTGTCTGTGG	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.31T>C	19.37:g.51376760T>C	ENSP00000313581:p.Ser11Pro		52	0	0		54	0.07	4	NM_001002231	0		0	B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.715753	0.30413	.	.	ENSG00000167751	ENST00000325321;ENST00000358049	D;D	0.89196	-2.48;-2.43	2.77	0.426	0.16479	.	0.273876	0.19729	N	0.107387	D	0.86594	0.5970	L	0.27053	0.805	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.961	T	0.75258	-0.3381	10	0.42905	T	0.14	.	2.6547	0.05008	0.2256:0.1427:0.0:0.6318	.	11;11	P20151-2;P20151	.;KLK2_HUMAN	P	11	ENSP00000313581:S11P;ENSP00000350748:S11P	ENSP00000313581:S11P	S	+	1	0	KLK2	56068572	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.391000	0.07323	-0.134000	0.11516	-0.388000	0.06559	TCT			0.612	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464438.3		NM_005551.3		C	51376760	T	C	51376760	3	2	91	1	0	0	0	0	1	0	0	0	8419	1667	58	4	33	4	KLK2	19	51376760	Missense_Mutation	SNP	T	TCGA-SN-A6IS-01A-11D-A435-10	421591	51376760	7752223	74	6427											
NSFL1C	55968	mdanderson.org	37	chr20	1447419	1447419	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccggtcctcctcggcGcccgtcaccgccacgaactc	4	5	11	21	7	1	0	1	0	0	0	5	1	3	0	6	3	1	0	6	3	1	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr20:1447419G>T	ENST00000216879.4	-	1	918	c.51C>A	c.(49-51)ggC>ggA	p.G17G	NSFL1C_ENST00000350991.4_Silent_p.G17G|NSFL1C_ENST00000353088.2_Silent_p.G17G|NSFL1C_ENST00000476071.1_Silent_p.G17G|NSFL1C_ENST00000381658.4_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	17						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CCTCCTCGGCGCCCGTCACCG	0.751																																					p.G17G													.	.			0			c.C51A												7	8	7					20																	1447419		1970	3905	5875	SO:0001819	synonymous_variant	55968	exon1			CTCGGCGCCCGTC	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.51C>A	20.37:g.1447419G>T			30	0	0		31	0.1	3	NM_016143	190	0.01	2	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	CCDS13015.1																																																																																					0.751	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077525.2		NM_016143		T	1447419	G	T	1447419	2	4	91	1	0	0	0	0	0	0	0	1	10689	1074	38	1		1	NSFL1C	20	1447419	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		1447419	61578101	75	6428											
SNRPB2	6629	bcgsc.ca;mdanderson.org	37	chr20	16721614	16721614	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggatttaagatcacaccGtcccatgctatgaagatcac	13	9	8	11	1	2	3	2	1	0	2	3	4	3	4	2	1	1	1	2	1	3	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr20:16721614G>T	ENST00000246071.6	+	7	858	c.642G>T	c.(640-642)ccG>ccT	p.P214P	SNRPB2_ENST00000377943.5_Silent_p.P214P	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	214	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)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						AGATCACACCGTCCCATGCTA	0.413																																					p.P214P													SNRPB2,NS,carcinoma,0,1	SNRPB2	12	1	0			c.G642T												94	86	89					20																	16721614		2203	4300	6503	SO:0001819	synonymous_variant	6629	exon7			CACACCGTCCCAT		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"RNA binding motif (RRM) containing"	11155	protein-coding gene	gene with protein product		603520	"small nuclear ribonucleoprotein polypeptide B2", "small nuclear ribonucleoprotein polypeptide B''"			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.642G>T	20.37:g.16721614G>T			72	0	0		92	0.05	5	NM_003092	454	0	0	B2R7J3|D3DW21|Q9UJD4	Silent	SNP	ENST00000246071.6	37	CCDS13123.1																																																																																					0.413	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078110.1		NM_003092		T	16721614	G	T	16721614	2	4	91	1	0	0	0	0	0	0	0	1	14885	1132	40	1		1	SNRPB2	20	16721614	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	15274195	16721614	46303906	76	6429											
GMEB2	26205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	62221817	62221817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgcccaggacggtggaCggcagggtggacaccacttt	7	7	14	13	2	0	0	0	0	0	0	0	3	0	3	3	6	1	1	3	6	0	2	rs368204390		TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr20:62221817C>T	ENST00000266068.1	-	9	1696	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P	GMEB2_ENST00000370077.1_Silent_p.P406P|GMEB2_ENST00000370069.1_Silent_p.P355P			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	406					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGACGGTGGACGGCAGGGTGG	0.711																																					p.P406P													.	.			0			c.G1218A							C		1,4321		0,1,2160	13	14	13		1218	-7.1	0.3	20		13	0,8482		0,0,4241	no	coding-synonymous	GMEB2	NM_012384.3		0,1,6401	TT,TC,CC		0.0,0.0231,0.0078		406/531	62221817	1,12803	2161	4241	6402	SO:0001819	synonymous_variant	26205	exon10			GGTGGACGGCAGG	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1218G>A	20.37:g.62221817C>T			84	0	0		108	0.21	23	NM_012384	43	0.4	17	E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Silent	SNP	ENST00000266068.1	37	CCDS13528.1																																																																																					0.711	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080166.1		NM_012384		T	62221817	C	T	62221817	2	4	91	1	0	0	0	0	0	0	0	1	6502	523	19	1		1	GMEB2	20	62221817	Silent	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	45500203	62221817	803703	77	6430											
NPBWR2	2832	mdanderson.org	37	chr20	62738008	62738008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggccgtgttgccagtcagCcccacagcacagatcccgga	9	5	11	16	3	1	1	1	0	0	1	2	2	2	2	5	2	3	2	5	2	0	1			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr20:62738008C>T	ENST00000369768.1	-	1	516	c.177G>A	c.(175-177)ggG>ggA	p.G59G		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	59					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)					TGCCAGTCAGCCCCACAGCAC	0.612																																					p.G59G													.	.			0			c.G177A												80	69	73					20																	62738008		2203	4300	6503	SO:0001819	synonymous_variant	2832	exon1			AGTCAGCCCCACA	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.177G>A	20.37:g.62738008C>T			51	0	0		44	0.07	3	NM_005286	2	0	0	Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	CCDS13557.1																																																																																					0.612	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080300.1		NM_005286		T	62738008	C	T	62738008	2	4	91	1	0	0	0	0	0	0	0	1	10586	726	26	2		2	NPBWR2	20	62738008	Silent	SNP	C	TCGA-SN-A6IS-01A-11D-A435-10	516191	62738008	287512	78	6431											
C21orf63	59271	mdanderson.org	37	chr21	33840041	33840041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgtgtgtgaagaccaggaGctgaaactgcactgccatga	12	7	12	10	1	0	4	0	3	0	1	0	5	0	5	3	1	4	2	3	1	2	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr21:33840041G>T	ENST00000300255.2	+	4	992	c.519G>T	c.(517-519)gaG>gaT	p.E173D	EVA1C_ENST00000382699.3_Missense_Mutation_p.E173D|EVA1C_ENST00000401402.3_Missense_Mutation_p.E173D	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	173	SUEL-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										AAGACCAGGAGCTGAAACTGC	0.488																																					p.E173D													.	.			0			c.G519T												97	80	86					21																	33840041		2203	4300	6503	SO:0001583	missense	59271	exon4			CCAGGAGCTGAAA	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 64", "chromosome 21 open reading frame 63", "family with sequence similarity 176, member C"	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.519G>T	21.37:g.33840041G>T	ENSP00000300255:p.Glu173Asp		33	0	0		39	0.08	3	NM_058187	9	0	0	A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171597	0.78452	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699;ENST00000412833	T;T;T	0.08807	3.05;3.06;3.05	5.61	1.73	0.24493	D-galactoside/L-rhamnose binding SUEL lectin domain (1);	0.320352	0.34906	N	0.003595	T	0.20292	0.0488	L	0.60455	1.87	0.40176	D	0.977235	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.80764	0.994;0.934;0.918	T	0.00509	-1.1698	10	0.41790	T	0.15	-0.1677	9.9101	0.41399	0.4015:0.0:0.5985:0.0	.	173;173;173	A6ND58;P58658;B5MC74	.;CU063_HUMAN;.	D	173;173;173;78	ENSP00000300255:E173D;ENSP00000384594:E173D;ENSP00000372146:E173D	ENSP00000300255:E173D	E	+	3	2	C21orf63	32761912	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.393000	0.34497	0.329000	0.23460	0.650000	0.86243	GAG			0.488	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000139403.1		NM_058187		T	33840041	G	T	33840041	3	4	91	1	0	0	0	0	1	0	0	0	2133	962	34	2	533	2	C21orf63	21	33840041	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		33840041	14289854	79	6432											
MED15	51586	mdanderson.org	37	chr22	20937421	20937421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccagctctgtcatgaGcccagctggctccagccagg	8	6	11	16	0	2	1	1	1	1	0	3	2	3	1	5	2	5	3	5	2	1	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr22:20937421G>T	ENST00000263205.7	+	12	1628	c.1559G>T	c.(1558-1560)aGc>aTc	p.S520I	MED15_ENST00000382974.2_Missense_Mutation_p.S409I|MED15_ENST00000425759.2_Missense_Mutation_p.S369I|MED15_ENST00000406969.1_Missense_Mutation_p.S454I|MED15_ENST00000292733.7_Missense_Mutation_p.S480I|MED15_ENST00000541476.1_Missense_Mutation_p.S454I|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	520					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)			TCTGTCATGAGCCCAGCTGGC	0.632																																					p.S520I													.	.			0			c.G1559T												37	41	40					22																	20937421		2203	4300	6503	SO:0001583	missense	51586	exon12			TCATGAGCCCAGC	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.1559G>T	22.37:g.20937421G>T	ENSP00000263205:p.Ser520Ile		53	0	0		50	0.06	3	NM_001003891	405	0	1	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844205	0.91197	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.6	5.6	0.85130	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.87578	0.971;0.998;0.998;0.996;0.982;0.998	T	0.80732	-0.1251	9	0.62326	D	0.03	.	17.0901	0.86619	0.0:0.0:1.0:0.0	.	450;499;136;454;480;520	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	I	369;480;520;454;409;454;450	.	ENSP00000263205:S520I	S	+	2	0	MED15	19267421	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.231000	0.95317	2.633000	0.89246	0.561000	0.74099	AGC			0.632	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000320177.2		NM_015889		T	20937421	G	T	20937421	3	4	91	1	0	0	0	0	1	0	0	0	9449	971	34	2	1605	2	MED15	22	20937421	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		20937421	30367145	80	6433											
MYH9	4627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	36716924	36716924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggcttggcggatagcacGagatttctccaaaagatctt	10	12	10	9	2	2	2	0	0	2	2	3	4	2	3	1	3	1	2	1	3	3	5			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr22:36716924G>A	ENST00000216181.5	-	8	1017	c.787C>T	c.(787-789)Cgt>Tgt	p.R263C		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	263	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGGATAGCACGAGATTTCTCC	0.473			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																												p.R263C				Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	MYH9,NS,malignant_melanoma,0,1	MYH9	0	1	0			c.C787T												72	68	69					22																	36716924		2203	4300	6503	SO:0001583	missense	4627	exon8	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	TAGCACGAGATTT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.787C>T	22.37:g.36716924G>A	ENSP00000216181:p.Arg263Cys		65	0	0		76	0.16	12	NM_002473	366	0.11	41	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945290	0.73672	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.96940	-4.18	5.13	2.84	0.33178	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98243	1.0489	10	0.87932	D	0	.	14.0388	0.64663	0.0:0.0:0.728:0.272	.	263	P35579	MYH9_HUMAN	C	127;263	ENSP00000216181:R263C	ENSP00000216181:R263C	R	-	1	0	MYH9	35046870	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	3.809000	0.55606	1.242000	0.43836	0.591000	0.81541	CGT			0.473	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000259110.3		NM_002473		A	36716924	G	A	36716924	3	1	91	1	0	0	0	0	1	0	0	0	10058	1058	37	1	5231	1	MYH9	22	36716924	Missense_Mutation	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10	15779503	36716924	14587642	81	6434											
MGAT3	4248	broad.mit.edu	37	chr22	39884889	39884889	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcacggcggcgggcgggTggcgccacaggggtcccgag	5	2	22	12	6	0	0	0	0	0	0	1	2	1	1	2	8	1	1	2	8	0	0			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chr22:39884889T>G	ENST00000341184.6	+	2	1752	c.1537T>G	c.(1537-1539)Tgg>Ggg	p.W513G		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	513					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)					GGCGGGCGGGTGGCGCCACAG	0.652																																					p.W513G													.	MGAT3	65		0			c.T1537G												15	19	18					22																	39884889		2180	4262	6442	SO:0001583	missense	4248	exon2			GGCGGGTGGCGCC	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.1537T>G	22.37:g.39884889T>G	ENSP00000345270:p.Trp513Gly		66	0.2424242424	16		58	0.22	13	NM_002409	127	0.09	12	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693339	0.15039	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.53	-0.759	0.11045	.	1.788660	0.03551	N	0.225503	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09684	-1.0663	9	0.25106	T	0.35	.	2.1254	0.03737	0.1212:0.2808:0.3567:0.2414	.	513	Q09327	MGAT3_HUMAN	G	513	.	ENSP00000345270:W513G	W	+	1	0	MGAT3	38214835	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.213000	0.09305	-0.404000	0.07610	-0.128000	0.14901	TGG			0.652	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075039.2		NM_002409		G	39884889	T	G	39884889	3	3	91	1	0	0	0	0	1	0	0	0	9560	1696	59	4	1539	4	MGAT3	22	39884889	Missense_Mutation	SNP	T	TCGA-SN-A6IS-01A-11D-A435-10	3167965	39884889	11419677	82	6435											
HSD17B10	3028	mdanderson.org	37	chrX	53459354	53459354	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcacatccttctcagaGgtcaccttcaaagagagaag	12	10	9	10	0	3	3	3	0	1	3	5	4	4	3	2	1	1	2	2	1	2	3			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chrX:53459354G>T	ENST00000168216.6	-	3	225	c.198C>A	c.(196-198)acC>acA	p.T66T	HSD17B10_ENST00000375298.4_Silent_p.T66T|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375304.5_Silent_p.T66T	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	66					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						CCTTCTCAGAGGTCACCTTCA	0.542																																					p.T66T													.	.			0			c.C198A												92	71	78					X																	53459354		2203	4300	6503	SO:0001819	synonymous_variant	3028	exon3			CTCAGAGGTCACC	U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	4800	protein-coding gene	gene with protein product	"type 10 17b-HSD", "type 10 17beta-hydroxysteroid dehydrogenase", "AB-binding alcohol dehydrogenase", "short chain dehydrogenase/reductase family 5C, member 1", "mitochondrial RNase P subunit 2"	300256	"hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II", "mental retardation, X-linked, syndromic 10"	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.198C>A	X.37:g.53459354G>T			20	0	0		35	0.11	4	NM_004493	761	0	0	Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Silent	SNP	ENST00000168216.6	37	CCDS14354.1																																																																																					0.542	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056750.1		NM_004493		T	53459354	G	T	53459354	2	4	91	1	0	0	0	0	0	0	0	1	7394	987	35	3		3	HSD17B10	23	53459354	Silent	SNP	G	TCGA-SN-A6IS-01A-11D-A435-10		53459354	101811206	83	6436											
SPIN2A	54466	broad.mit.edu	37	chrX	57162583	57162583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttgagctaagaccaTccccctccattcatccttag	9	11	7	14	0	1	2	1	1	0	1	4	2	4	2	5	1	2	2	5	1	2	4			TCGA-SN-A6IS-01A-11D-A435-10	TCGA-SN-A6IS-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca87b2ae-6a7b-45a2-af22-eaee181811e4	80864d22-97cf-4c45-89b2-fea8dc595170	g.chrX:57162583T>C	ENST00000374908.1	-	1	847	c.448A>G	c.(448-450)Atg>Gtg	p.M150V	SPIN2A_ENST00000374906.3_Missense_Mutation_p.M150V			Q99865	SPI2A_HUMAN	spindlin family, member 2A	150					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				breast(1)|kidney(1)|ovary(1)	3						GCTAAGACCATCCCCCTCCAT	0.413																																					p.M150V													.	SPIN2A	7		0			c.A448G												88	79	82					X																	57162583		2201	4294	6495	SO:0001583	missense	54466	exon2			AGACCATCCCCCT	Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"spindlin family, member 2"	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.448A>G	X.37:g.57162583T>C	ENSP00000364043:p.Met150Val		351	0.0028490028	1		443	0.01	5	NM_019003	0		0	O75650|Q6IPW2|Q9UJJ0	Missense_Mutation	SNP	ENST00000374908.1	37	CCDS35312.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.471027	0.26423	.	.	ENSG00000147059	ENST00000374908;ENST00000374906	T;T	0.45276	0.9;0.9	2.74	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	L	0.33753	1.03	0.39768	D	0.972128	P	0.42827	0.791	P	0.62740	0.906	T	0.32428	-0.9907	10	0.23302	T	0.38	-23.7792	8.4178	0.32681	0.0:0.0:0.0:1.0	.	150	Q99865	SPI2A_HUMAN	V	150	ENSP00000364043:M150V;ENSP00000364041:M150V	ENSP00000364041:M150V	M	-	1	0	SPIN2A	57179308	1.000000	0.71417	0.997000	0.53966	0.897000	0.52465	6.373000	0.73128	1.327000	0.45338	0.345000	0.21793	ATG			0.413	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058915.1		NM_019003		C	57162583	T	C	57162583	3	2	91	1	0	0	0	0	1	0	0	0	15076	1435	50	4	332	4	SPIN2A	23	57162583	Missense_Mutation	SNP	T	TCGA-SN-A6IS-01A-11D-A435-10	3703229	57162583	98107977	84	6437											
LRRC47	57470	mdanderson.org	37	chr1	3712537	3712537	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgaaagagctcggcgggAaaggagtctaggcaattgcc	11	5	17	8	3	1	1	0	0	1	1	2	4	1	3	1	5	2	2	1	5	4	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr1:3712537A>G	ENST00000378251.1	-	1	531	c.504T>C	c.(502-504)ttT>ttC	p.F168F		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	168							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GCTCGGCGGGAAAGGAGTCTA	0.697																																					p.F168F													.	.			0			c.T504C												12	12	12					1																	3712537		2171	4253	6424	SO:0001819	synonymous_variant	57470	exon1			GGCGGGAAAGGAG	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.504T>C	1.37:g.3712537A>G			42	0.0476190476	2		29	0.14	4	NM_020710	76	0	0	Q9ULN5	Silent	SNP	ENST00000378251.1	37	CCDS51.1																																																																																					0.697	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009744.1		NM_020710		G	3712537	A	G	3712537	2	3	92	1	0	0	0	0	0	0	0	1	9020	243	9	4		4	LRRC47	1	3712537	Silent	SNP	A	TCGA-SN-A84W-01A-11D-A435-10		3712537	245538084	1	6438											
EPB41	2035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	29359661	29359661	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagtggccttctggtttaCaaagataagctgagaattaa	13	13	9	6	0	2	2	0	1	2	2	2	3	2	2	1	2	2	2	1	2	6	6			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr1:29359661C>T	ENST00000343067.4	+	9	1396	c.1269C>T	c.(1267-1269)taC>taT	p.Y423Y	EPB41_ENST00000349460.4_Silent_p.Y214Y|EPB41_ENST00000373798.1_Silent_p.Y423Y|EPB41_ENST00000373797.1_Silent_p.Y423Y|EPB41_ENST00000373800.3_Silent_p.Y214Y|EPB41_ENST00000398863.2_Silent_p.Y423Y|EPB41_ENST00000356093.2_Silent_p.Y423Y|EPB41_ENST00000347529.3_Silent_p.Y388Y	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	423	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTCTGGTTTACAAAGATAAGC	0.418																																					p.Y423Y													.	.			0			c.C1269T												115	113	114					1																	29359661		2203	4300	6503	SO:0001819	synonymous_variant	2035	exon9			GGTTTACAAAGAT	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1269C>T	1.37:g.29359661C>T			137	0	0		97	0.37	36	NM_001166006	55	0.42	23	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	CCDS53288.1																																																																																					0.418	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010312.1		NM_203342		T	29359661	C	T	29359661	2	4	92	1	0	0	0	0	0	0	0	1	5158	489	17	3		3	EPB41	1	29359661	Silent	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	25647124	29359661	219890960	2	6439											
HIVEP3	59269	mdanderson.org	37	chr1	42049570	42049570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggctgcttgggtcttGgggagagctctgcagggtga	6	9	20	6	0	2	2	0	1	2	1	2	4	2	2	0	6	3	4	0	6	1	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr1:42049570G>T	ENST00000372583.1	-	4	1784	c.899C>A	c.(898-900)cCa>cAa	p.P300Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P300Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P300Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P300Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	300	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTTGGGTCTTGGGGAGAGCTC	0.602																																					p.P300Q													.	.			0			c.C899A												79	82	81					1																	42049570		2203	4300	6503	SO:0001583	missense	59269	exon4			GGTCTTGGGGAGA	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.899C>A	1.37:g.42049570G>T	ENSP00000361664:p.Pro300Gln		65	0	0		48	0.06	3	NM_024503	0		0	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757370	0.49468	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.15	4.21	0.49690	.	0.119241	0.38663	N	0.001610	T	0.13841	0.0335	L	0.27053	0.805	0.36876	D	0.889171	D;D	0.59767	0.986;0.977	P;P	0.55923	0.787;0.617	T	0.11567	-1.0582	10	0.72032	D	0.01	1.1635	15.2105	0.73219	0.0:0.1414:0.8586:0.0	.	300;300	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	300	ENSP00000361665:P300Q;ENSP00000361664:P300Q;ENSP00000247584:P300Q;ENSP00000410828:P300Q	ENSP00000247584:P300Q	P	-	2	0	HIVEP3	41822157	0.995000	0.38212	0.929000	0.37066	0.606000	0.37113	5.478000	0.66806	1.350000	0.45770	0.655000	0.94253	CCA			0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000016978.1		NM_024503		T	42049570	G	T	42049570	3	4	92	1	0	0	0	0	1	0	0	0	7203	1348	47	3	6345	3	HIVEP3	1	42049570	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	12689909	42049570	207201051	3	6440											
GFI1	2672	mdanderson.org	37	chr1	92946383	92946383	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggtggcaccggccccTgcgctgcagctccctggcgc	3	5	14	19	4	0	0	0	0	0	0	1	0	1	0	5	4	4	4	5	4	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr1:92946383T>C	ENST00000370332.1	-	4	879	c.561A>G	c.(559-561)gcA>gcG	p.A187A	GFI1_ENST00000483490.1_5'Flank|GFI1_ENST00000427103.1_Silent_p.A187A|GFI1_ENST00000294702.5_Silent_p.A187A	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	187	Ala/Gly-rich.|Required for interaction with RELA.				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)		CACCGGCCCCTGCGCTGCAGC	0.786																																					p.A187A													.	.			0			c.A561G												3	4	4					1																	92946383		1830	3668	5498	SO:0001819	synonymous_variant	2672	exon4			GGCCCCTGCGCTG	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.561A>G	1.37:g.92946383T>C			11	0	0		16	0.13	2	NM_001127215	0		0	Q8N564	Silent	SNP	ENST00000370332.1	37	CCDS30773.1																																																																																					0.786	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030054.1		NM_005263		C	92946383	T	C	92946383	2	2	92	1	0	0	0	0	0	0	0	1	6353	1567	55	4		4	GFI1	1	92946383	Silent	SNP	T	TCGA-SN-A84W-01A-11D-A435-10	50896813	92946383	156304238	4	6441											
EDEM3	80267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	184706178	184706178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagagtgtccaaagaaTcaatcagtgtcagagaaaat	18	7	8	8	0	3	3	3	0	0	3	4	4	4	3	2	0	0	0	2	0	6	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr1:184706178T>C	ENST00000318130.8	-	4	592	c.326A>G	c.(325-327)gAt>gGt	p.D109G	EDEM3_ENST00000367512.3_Missense_Mutation_p.D66G	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	109					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						GTCCAAAGAATCAATCAGTGT	0.294																																					p.D109G													.	.			0			c.A326G												94	95	95					1																	184706178		2203	4293	6496	SO:0001583	missense	80267	exon4			AAAGAATCAATCA	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.326A>G	1.37:g.184706178T>C	ENSP00000318147:p.Asp109Gly		355	0	0		305	0.31	95	NM_025191	21	0.33	7	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369695	0.61624	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	D;D	0.84298	-1.83;-1.83	4.11	4.11	0.48088	.	0.051762	0.85682	D	0.000000	D	0.92854	0.7727	H	0.95151	3.63	0.80722	D	1	P;P	0.35944	0.529;0.529	P;B	0.50934	0.654;0.443	D	0.94008	0.7281	10	0.87932	D	0	.	11.9784	0.53105	0.0:0.0:0.0:1.0	.	109;66	Q9BZQ6;B7ZLZ2	EDEM3_HUMAN;.	G	109;66	ENSP00000318147:D109G;ENSP00000356482:D66G	ENSP00000318147:D109G	D	-	2	0	EDEM3	182972801	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.499000	0.81566	1.622000	0.50330	0.477000	0.44152	GAT			0.294	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085785.3		NM_025191		C	184706178	T	C	184706178	3	2	92	1	0	0	0	0	1	0	0	0	4918	1435	50	4	2540	4	EDEM3	1	184706178	Missense_Mutation	SNP	T	TCGA-SN-A84W-01A-11D-A435-10	91759795	184706178	64544443	5	6442											
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186151356	186151356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgtaagaatacctttGgaagttatcagtgcatctgc	12	13	10	6	0	2	2	1	1	1	1	2	3	2	3	1	1	3	3	1	1	5	4			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr1:186151356G>A	ENST00000271588.4	+	105	16580	c.16351G>A	c.(16351-16353)Gga>Aga	p.G5451R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G5334R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5451	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						GAATACCTTTGGAAGTTATCA	0.398																																					p.G5451R													.	.			0			c.G16351A												141	133	136					1																	186151356		2203	4300	6503	SO:0001583	missense	83872	exon105			ACCTTTGGAAGTT	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.16351G>A	1.37:g.186151356G>A	ENSP00000271588:p.Gly5451Arg		229	0	0		233	0.27	63	NM_031935	44	0.16	7	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978549	0.92982	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.89939	-2.59;-2.59;-2.59	5.53	5.53	0.82687	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96987	0.9016	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98262	1.0499	10	0.87932	D	0	.	19.4713	0.94963	0.0:0.0:1.0:0.0	.	5451	Q96RW7	HMCN1_HUMAN	R	5451;5334;126	ENSP00000271588:G5451R;ENSP00000356462:G5334R;ENSP00000406205:G126R	ENSP00000271588:G5451R	G	+	1	0	HMCN1	184417979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.562000	0.98145	2.587000	0.87381	0.563000	0.77884	GGA			0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131848.1		NM_031935		A	186151356	G	A	186151356	3	1	92	1	0	0	0	0	1	0	0	0	7235	1349	47	3	16769	3	HMCN1	1	186151356	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	1445178	186151356	63099265	6	6443											
KIF21B	23046	ucsc.edu	37	chr1	200974451	200974451	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaggtcgggctgggtGcacatgcgcatctggcacag	7	7	14	13	2	2	0	1	0	1	0	3	0	2	0	1	4	2	4	1	4	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr1:200974451G>T	ENST00000422435.2	-	5	1033	c.717C>A	c.(715-717)tgC>tgA	p.C239*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.C239*|KIF21B_ENST00000332129.2_Nonsense_Mutation_p.C239*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.C239*	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	239	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGGGCTGGGTGCACATGCGCA	0.642																																					p.C239X													.	KIF21B	208		0			c.C717A												73	66	68					1																	200974451		2203	4300	6503	SO:0001587	stop_gained	23046	exon5			CTGGGTGCACATG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.717C>A	1.37:g.200974451G>T	ENSP00000411831:p.Cys239*		27	0	0		28	0.14	4	NM_017596	6	0	0	B2RP62|B7ZMI0|Q5T4J3	Nonsense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	39	7.879844	0.98539	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	5.17	1.34	0.21922	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2924	0.26374	0.6271:0.0:0.3729:0.0	.	.	.	.	X	239	.	ENSP00000328494:C239X	C	-	3	2	KIF21B	199241074	0.006000	0.16342	0.980000	0.43619	0.901000	0.52897	0.111000	0.15458	0.391000	0.25143	-0.345000	0.07892	TGC			0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000382635.1		XM_371332		T	200974451	G	T	200974451	4	4	92	1	0	0	0	0	0	1	0	0	8304	1311	46	2	4277	2	KIF21B	1	200974451	Nonsense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	14823095	200974451	48276170	7	6444											
KISS1	3814	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr1	204159651	204159651	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgtggttccctggtgcCgcctcccgcttgccgaagcg	2	9	13	17	5	0	0	0	0	0	0	2	1	2	0	6	2	4	2	6	2	1	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr1:204159651C>T	ENST00000367194.4	-	3	526	c.378G>A	c.(376-378)gcG>gcA	p.A126A		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	126					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		TCCCTGGTGCCGCCTCCCGCT	0.692																																					p.A126A													.	.			0			c.G378A												9	9	9					1																	204159651		1786	3911	5697	SO:0001819	synonymous_variant	3814	exon3			TGGTGCCGCCTCC	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"Endogenous ligands"	6341	protein-coding gene	gene with protein product	"prepro-kisspeptin", "kisspeptin"	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.378G>A	1.37:g.204159651C>T			74	0	0		62	0.06	4	NM_002256	6	0	0	A8K6N0|Q9HBP1	Silent	SNP	ENST00000367194.4	37	CCDS41454.1																																																																																					0.692	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087892.1		NM_002256		T	204159651	C	T	204159651	2	4	92	1	0	0	0	0	0	0	0	1	8342	639	23	1		1	KISS1	1	204159651	Silent	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	3185200	204159651	45090970	8	6445											
SLC30A1	7779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	211751852	211751852	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcggagagcatcgccaGcgacgaggtcacccggctca	9	4	15	13	5	2	1	2	0	0	1	4	5	2	2	2	4	2	2	2	4	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr1:211751852G>A	ENST00000367001.4	-	1	232	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	35					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AGCATCGCCAGCGACGAGGTC	0.692																																					p.L35L													.	.			0			c.C103T												41	40	40					1																	211751852		2193	4296	6489	SO:0001819	synonymous_variant	7779	exon1			TCGCCAGCGACGA	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.103C>T	1.37:g.211751852G>A			57	0	0		53	0.32	17	NM_021194	27	0.37	10	Q0VAK9|Q9BZF6	Silent	SNP	ENST00000367001.4	37	CCDS1499.1																																																																																					0.692	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000104738.2				A	211751852	G	A	211751852	2	1	92	1	0	0	0	0	0	0	0	1	14576	962	34	2		2	SLC30A1	1	211751852	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	7592201	211751852	37498769	9	6446											
NBAS	51594	broad.mit.edu	37	chr2	15359012	15359012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgcagcacgtgaatgCggggccgcaccggccaggcg	9	4	15	13	5	1	1	0	1	1	0	1	1	1	1	3	4	3	3	3	4	2	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr2:15359012C>T	ENST00000281513.5	-	48	6342	c.6317G>A	c.(6316-6318)cGc>cAc	p.R2106H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1986H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2106					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACGTGAATGCGGGGCCGCAC	0.567																																					p.R2106H													NBAS,NS,carcinoma,-1,1	NBAS	246	1	0			c.G6317A												57	61	60					2																	15359012		2203	4300	6503	SO:0001583	missense	51594	exon48			TGAATGCGGGGCC	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6317G>A	2.37:g.15359012C>T	ENSP00000281513:p.Arg2106His		259	0	0		202	0.02	4	NM_015909	103	0	0	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.413540|5.413540	0.96072|0.96072	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513	.|T;T	.|0.55052	.|0.54;0.54	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72285|0.72285	0.3441|0.3441	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	.|0.81914	.|0.995;0.912	T|T	0.74266|0.74266	-0.3721|-0.3721	5|10	.|0.87932	.|D	.|0	.|.	18.6777|18.6777	0.91534|0.91534	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1986;2106	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	T|H	1154|1986;2106	.|ENSP00000413201:R1986H;ENSP00000281513:R2106H	.|ENSP00000281513:R2106H	A|R	-|-	1|2	0|0	NBAS|NBAS	15276463|15276463	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.987000|0.987000	0.75469|0.75469	6.932000|6.932000	0.75869|0.75869	2.644000|2.644000	0.89710|0.89710	0.591000|0.591000	0.81541|0.81541	GCA|CGC			0.567	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241638.1		NM_015909		T	15359012	C	T	15359012	3	4	92	1	0	0	0	0	1	0	0	0	10202	768	27	1	818	1	NBAS	2	15359012	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10		15359012	227840361	10	6447											
APOB	338	broad.mit.edu	37	chr2	21224911	21224911	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcaatcttctctttcccTtttccatctggatcggtaag	6	17	6	12	1	4	0	0	0	4	0	8	1	6	1	2	2	1	2	2	2	2	5			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr2:21224911T>C	ENST00000233242.1	-	29	13510	c.13383A>G	c.(13381-13383)aaA>aaG	p.K4461K	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4461					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)					TCTCTTTCCCTTTTCCATCTG	0.413																																					p.K4461K													.	APOB	761		0			c.A13383G												72	75	74					2																	21224911		2203	4300	6503	SO:0001819	synonymous_variant	338	exon29			TTTCCCTTTTCCA	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.13383A>G	2.37:g.21224911T>C			165	0.0060606061	1		148	0.02	3	NM_000384	16	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																					0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1				C	21224911	T	C	21224911	2	2	92	1	0	0	0	0	0	0	0	1	785	1606	56	4		4	APOB	2	21224911	Silent	SNP	T	TCGA-SN-A84W-01A-11D-A435-10	5865899	21224911	221974462	11	6448											
AGBL5	60509	mdanderson.org	37	chr2	27276346	27276346	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattatgaacatgaacaagCagagcaagctgtattcccag	16	8	8	9	0	0	3	0	2	0	1	1	3	1	3	1	0	5	4	1	0	6	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr2:27276346C>T	ENST00000360131.4	+	3	451	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Q98*	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	98					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGAACAAGCAGAGCAAGCT	0.552																																					p.Q98X													.	.			0			c.C292T												108	103	104					2																	27276346		2203	4300	6503	SO:0001587	stop_gained	60509	exon3			AACAAGCAGAGCA	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.292C>T	2.37:g.27276346C>T	ENSP00000353249:p.Gln98*		84	0	0		84	0.06	5	NM_001035507	138	0	0	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Nonsense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	36	5.835535	0.97003	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	.	.	.	5.67	5.67	0.87782	.	0.050931	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.3152	18.5343	0.91004	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	ENSP00000323681:Q98X	Q	+	1	0	AGBL5	27129850	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.197000	0.77814	2.666000	0.90696	0.561000	0.74099	CAG			0.552	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000309033.1		NM_021831		T	27276346	C	T	27276346	4	4	92	1	0	0	0	0	0	1	0	0	378	711	25	2	298	2	AGBL5	2	27276346	Nonsense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	6051435	27276346	215923027	12	6449											
SH2D6	284948	hgsc.bcm.edu;bcgsc.ca	37	chr2	85662140	85662149	+	Frame_Shift_Del	DEL	CCCCACCCCA	CCCCACCCCA	-																															tagaagccacctttgcccacCcccaccccaccccaccccac																										TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	CCCCACCCCA	CCCCACCCCA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr2:85662140_85662149delCCCCACCCCA	ENST00000340326.2	+	1	223_232	c.62_71delCCCCACCCCA	c.(61-72)cccccaccccacfs	p.PPPH21fs	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Intron|SH2D6_ENST00000481426.2_Intron	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	21	Pro-rich.									central_nervous_system(1)|lung(2)	3						CTTTGcccacccccaccccaccccacccca	0.633																																					p.21_24del													.	SH2D6	15		0			c.61_70del																																									SO:0001589	frameshift_variant	284948	exon1			GCCCACCCCCACC	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.62_71delCCCCACCCCA	2.37:g.85662150_85662159delCCCCACCCCA	ENSP00000341867:p.Pro21fs		354	0	0		277	0.14	40	NM_198482	0		0	A6ND14|Q6R306	Frame_Shift_Del	DEL	ENST00000340326.2	37	CCDS1976.1																																																																																					0.633	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252493.2		NM_198482		-	85662149	CCCCACCCCA	-	85662140	7	5	92	1	0	1	0	1	0	0	0	0	14261	623	22	0	64	0	SH2D6	2	85662140	Frame_Shift_Del	DEL	CCCCACCCCA	TCGA-SN-A84W-01A-11D-A435-10	58385794	85662140	157537233	13	6450											
COX5B	1329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	98264520	98264520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaggcgaggcccagcgatgCccccgctgtggagcccatta	9	5	13	14	3	0	0	0	0	0	0	0	3	0	1	4	3	3	1	4	3	2	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr2:98264520C>T	ENST00000258424.2	+	4	386	c.339C>T	c.(337-339)tgC>tgT	p.C113C	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	113					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						CCCAGCGATGCCCCCGCTGTG	0.507																																					p.C113C													.	.			0			c.C339T												49	48	49					2																	98264520		2203	4300	6503	SO:0001819	synonymous_variant	1329	exon4			GCGATGCCCCCGC	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.339C>T	2.37:g.98264520C>T			330	0	0		277	0.26	72	NM_001862	624	0.35	221	Q53YB7|Q96J18|Q99610	Silent	SNP	ENST00000258424.2	37	CCDS2032.1																																																																																					0.507	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252972.2		NM_001862		T	98264520	C	T	98264520	2	4	92	1	0	0	0	0	0	0	0	1	3775	747	26	2		2	COX5B	2	98264520	Silent	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	12602380	98264520	144934853	14	6451											
VWA3B	200403	mdanderson.org	37	chr2	98914394	98914394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagaagtgtgtgagccGcacccaagcactggtgggct	9	8	15	9	1	0	3	0	2	0	1	0	3	0	3	2	2	2	3	2	2	3	0	rs146321928		TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr2:98914394G>T	ENST00000477737.1	+	24	3386	c.3182G>T	c.(3181-3183)cGc>cTc	p.R1061L	AC092675.1_ENST00000401293.1_RNA|VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1061										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						TGTGTGAGCCGCACCCAAGCA	0.532																																					p.R1061L													.	.			0			c.G3182T												86	90	88					2																	98914394		2014	4166	6180	SO:0001583	missense	200403	exon24			TGAGCCGCACCCA	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.3182G>T	2.37:g.98914394G>T	ENSP00000417955:p.Arg1061Leu		55	0	0		53	0.06	3	NM_144992	0		0	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	7.853	0.724362	0.15439	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.22945	1.93	4.93	-0.398	0.12418	.	750.824000	0.00166	N	0.000000	T	0.15652	0.0377	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.19148	0.024;0.005	T	0.27806	-1.0063	10	0.40728	T	0.16	.	8.6816	0.34212	0.2741:0.4468:0.279:0.0	.	453;1061	Q502W6-5;Q502W6	.;VWA3B_HUMAN	L	1061;183	ENSP00000417955:R1061L	ENSP00000351009:R183L	R	+	2	0	VWA3B	98280826	0.000000	0.05858	0.093000	0.20910	0.314000	0.28054	0.066000	0.14489	0.036000	0.15547	-0.151000	0.13558	CGC			0.532	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353469.2		NM_144992		T	98914394	G	T	98914394	3	4	92	1	0	0	0	0	1	0	0	0	17265	1087	38	1	3272	1	VWA3B	2	98914394	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	649874	98914394	144284979	15	6452											
MCM6	4175	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	136633830	136633830	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggcgctcgccgacttactCctccaagaagtccaggaaca	10	6	11	14	3	0	1	0	0	0	1	4	3	3	2	4	3	2	1	4	3	4	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr2:136633830C>T	ENST00000264156.2	-	1	166	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	36					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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CCGACTTACTCCTCCAAGAAG	0.741																																					p.E36K	Ovarian(196;141 2104 8848 24991 25939)												.	.			0			c.G106A												12	17	16					2																	136633830		2159	4251	6410	SO:0001630	splice_region_variant	4175	exon1			CTTACTCCTCCAA		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.107+1G>A	2.37:g.136633830C>T			47	0	0		35	0.34	12	NM_005915	111	0.32	35	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838595	0.91117	.	.	ENSG00000076003	ENST00000264156	T	0.12039	2.72	4.96	4.96	0.65561	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	M	0.76433	2.335	0.80722	D	1	B	0.27932	0.194	B	0.31869	0.137	T	0.03193	-1.1062	10	0.32370	T	0.25	-16.2858	18.4056	0.90535	0.0:1.0:0.0:0.0	.	36	Q14566	MCM6_HUMAN	K	36	ENSP00000264156:E36K	ENSP00000264156:E36K	E	-	1	0	MCM6	136350300	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.195000	0.77798	2.571000	0.86741	0.467000	0.42956	GAG			0.741	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254658.1		NM_005915	Missense_Mutation	T	136633830	C	T	136633830	5	4	92	1	0	0	0	0	0	0	1	0	9407	869	30	3	2427	3	MCM6	2	136633830	Splice_Site	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	37719436	136633830	106565543	16	6453											
TMEM169	92691	broad.mit.edu	37	chr2	216965047	216965047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccatggcttcttccctcGgcctctacgctgctgtggtc	2	13	11	15	2	2	0	0	0	2	0	5	0	3	0	3	4	2	3	3	4	1	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr2:216965047G>T	ENST00000295658.4	+	3	883	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C	TMEM169_ENST00000454545.1_Missense_Mutation_p.G226C|TMEM169_ENST00000406027.2_Missense_Mutation_p.G226C|TMEM169_ENST00000437356.2_Missense_Mutation_p.G226C	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	226						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTTCCCTCGGCCTCTACGC	0.562																																					p.G226C													.	TMEM169	46		0			c.G676T												260	204	223					2																	216965047		2203	4300	6503	SO:0001583	missense	92691	exon4			TCCCTCGGCCTCT	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.676G>T	2.37:g.216965047G>T	ENSP00000295658:p.Gly226Cys		167	0	0		136	0.03	4	NM_001142310	6	0	0	B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694799	0.68386	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	4.05	0.47172	.	0.156048	0.56097	D	0.000028	T	0.74749	0.3757	M	0.69823	2.125	0.51012	D	0.999902	D	0.76494	0.999	D	0.67382	0.951	T	0.75448	-0.3314	8	.	.	.	-19.2499	12.1989	0.54313	0.0818:0.0:0.9182:0.0	.	226	Q96HH4	TM169_HUMAN	C	226	.	.	G	+	1	0	TMEM169	216673292	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	9.636000	0.98440	1.297000	0.44761	0.655000	0.94253	GGC			0.562	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256666.2		NM_138390		T	216965047	G	T	216965047	3	4	92	1	0	0	0	0	1	0	0	0	16107	1116	39	1	682	1	TMEM169	2	216965047	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	80331217	216965047	26234326	17	6454											
ESPNL	339768	mdanderson.org	37	chr2	239009324	239009324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcctggccgagctgtgctgGctggtccgcgaggggggctg	3	7	20	11	3	0	0	0	0	0	0	1	2	1	0	3	6	3	4	3	6	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr2:239009324G>T	ENST00000343063.3	+	1	527	c.264G>T	c.(262-264)tgG>tgT	p.W88C	ESPNL_ENST00000409169.1_Missense_Mutation_p.W88C	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	88										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGCTGTGCTGGCTGGTCCGCG	0.741																																					p.W88C													.	.			0			c.G264T												3	3	3					2																	239009324		1592	3458	5050	SO:0001583	missense	339768	exon1			GTGCTGGCTGGTC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.264G>T	2.37:g.239009324G>T	ENSP00000339115:p.Trp88Cys		14	0	0		16	0.13	2	NM_194312	0		0	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124436	0.77436	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.64991	-0.01;-0.13	4.1	4.1	0.47936	Ankyrin repeat-containing domain (4);	0.000000	0.64402	U	0.000013	T	0.64271	0.2583	N	0.16201	0.385	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.70695	-0.4801	10	0.59425	D	0.04	-15.0611	15.1014	0.72279	0.0:0.0:1.0:0.0	.	88	Q6ZVH7	ESPNL_HUMAN	C	88	ENSP00000339115:W88C;ENSP00000386577:W88C	ENSP00000339115:W88C	W	+	3	0	ESPNL	238674063	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.542000	0.90647	1.838000	0.53458	0.462000	0.41574	TGG			0.741	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257164.2		NM_194312		T	239009324	G	T	239009324	3	4	92	1	0	0	0	0	1	0	0	0	5262	1212	42	2	266	2	ESPNL	2	239009324	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	22044277	239009324	4190049	18	6455											
ZBTB11	27107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	101371663	101371663	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgagacttcacatgggaaTaccaatctttcttccaacta	14	12	5	10	0	3	1	1	1	2	1	4	3	4	2	2	1	2	0	2	1	6	5			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr3:101371663T>G	ENST00000312938.4	-	9	3009	c.2429A>C	c.(2428-2430)tAt>tCt	p.Y810S		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	810					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACATGGGAATACCAATCTTT	0.403																																					p.Y810S													.	.			0			c.A2429C												140	132	135					3																	101371663		2203	4300	6503	SO:0001583	missense	27107	exon9			TGGGAATACCAAT	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2429A>C	3.37:g.101371663T>G	ENSP00000326200:p.Tyr810Ser		91	0	0		69	0.3	21	NM_014415	47	0.3	14	Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154376	0.78114	.	.	ENSG00000066422	ENST00000312938	T	0.27402	1.67	4.92	4.92	0.64577	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	0.32376	0.0827	N	0.03999	-0.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39702	-0.9601	10	0.31617	T	0.26	-18.9494	14.8582	0.70359	0.0:0.0:0.0:1.0	.	810	O95625	ZBT11_HUMAN	S	810	ENSP00000326200:Y810S	ENSP00000326200:Y810S	Y	-	2	0	ZBTB11	102854353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.960000	0.56953	0.533000	0.62120	TAT			0.403	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353441.2		NM_014415		G	101371663	T	G	101371663	3	3	92	1	0	0	0	0	1	0	0	0	17547	1406	49	4	744	4	ZBTB11	3	101371663	Missense_Mutation	SNP	T	TCGA-SN-A84W-01A-11D-A435-10		101371663	96650767	19	6456											
GATA2	2624	mdanderson.org	37	chr3	128200738	128200738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcggcgccataaggtggtgGttgtcgtctgacaatttgca	7	13	13	8	3	1	1	0	1	1	0	3	1	1	1	1	4	1	2	1	4	2	4			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr3:128200738G>T	ENST00000341105.2	-	5	1398	c.1067C>A	c.(1066-1068)aCc>aAc	p.T356N	GATA2_ENST00000487848.1_Missense_Mutation_p.T356N|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.T342N	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	356					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TAAGGTGGTGGTTGTCGTCTG	0.647			Mis		AML(CML blast transformation)																																p.T356N				Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	.	.			0			c.C1067A												106	85	92					3																	128200738		2203	4300	6503	SO:0001583	missense	2624	exon5			GTGGTGGTTGTCG	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1067C>A	3.37:g.128200738G>T	ENSP00000345681:p.Thr356Asn		113	0	0		101	0.05	5	NM_032638	323	0	0	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563704	0.86335	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99470	-5.96;-5.96;-5.96	4.95	4.95	0.65309	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	N	0.21508	0.67	0.80722	D	1	D;P	0.67145	0.996;0.566	P;B	0.61070	0.883;0.403	D	0.99919	1.1241	10	0.59425	D	0.04	-22.8129	18.1809	0.89777	0.0:0.0:1.0:0.0	.	342;356	P23769-2;P23769	.;GATA2_HUMAN	N	356;342;356	ENSP00000345681:T356N;ENSP00000400259:T342N;ENSP00000417074:T356N	ENSP00000345681:T356N	T	-	2	0	GATA2	129683428	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.922000	0.87538	2.271000	0.75665	0.591000	0.81541	ACC			0.647	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356925.1		NM_032638		T	128200738	G	T	128200738	3	4	92	1	0	0	0	0	1	0	0	0	6268	1261	44	3	383	3	GATA2	3	128200738	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	26829075	128200738	69821692	20	6457											
PLXND1	23129	mdanderson.org	37	chr3	129275264	129275264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggttggcctccagcgcgGccatgatctgaggggagcag	6	7	18	10	2	1	2	0	2	1	0	2	3	2	3	3	6	2	2	3	6	0	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr3:129275264G>T	ENST00000324093.4	-	36	5847	c.5669C>A	c.(5668-5670)gCc>gAc	p.A1890D	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Intron	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1890					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						CTCCAGCGCGGCCATGATCTG	0.612																																					p.A1890D	Ovarian(97;366 1484 3738 22084 39045)												PLXND1,caecum,carcinoma,-1,1	PLXND1	-1	1	0			c.C5669A												103	102	102					3																	129275264		2203	4300	6503	SO:0001583	missense	23129	exon36			AGCGCGGCCATGA	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.5669C>A	3.37:g.129275264G>T	ENSP00000317128:p.Ala1890Asp		103	0	0		104	0.05	5	NM_015103	579	0	0	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292110	0.40594	.	.	ENSG00000004399	ENST00000324093	T	0.33654	1.4	4.58	3.69	0.42338	.	0.550816	0.19248	N	0.119012	T	0.27489	0.0675	L	0.28115	0.83	0.80722	D	1	B;B	0.24258	0.041;0.1	B;B	0.21151	0.017;0.033	T	0.05131	-1.0904	10	0.51188	T	0.08	.	13.8349	0.63404	0.0:0.3074:0.6926:0.0	.	486;1890	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	D	1890	ENSP00000317128:A1890D	ENSP00000317128:A1890D	A	-	2	0	PLXND1	130757954	0.008000	0.16893	0.458000	0.27068	0.841000	0.47740	0.516000	0.22817	0.886000	0.36113	0.462000	0.41574	GCC			0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356132.4		NM_015103		T	129275264	G	T	129275264	3	4	92	1	0	0	0	0	1	0	0	0	12144	1203	42	2	112	2	PLXND1	3	129275264	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	1074526	129275264	68747166	21	6458											
SI	6476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	164777693	164777693	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttattctacttacaaaTggtatgccagcttcccggtt	8	15	6	12	1	1	0	0	0	1	0	2	0	2	0	3	2	4	3	3	2	5	8	rs531010619		TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr3:164777693T>C	ENST00000264382.3	-	10	1205	c.1143A>G	c.(1141-1143)ccA>ccG	p.P381P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	381	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)	TACTTACAAATGGTATGCCAG	0.363										HNSCC(35;0.089)			T|||	1	0.000199681	8e-04	0	5008	,	,		13343	0		0	False		,,,				2504	0				p.P381P													.	.			0			c.A1143G												207	230	222					3																	164777693		2203	4300	6503	SO:0001819	synonymous_variant	6476	exon10			TACAAATGGTATG	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.1143A>G	3.37:g.164777693T>C			82	0	0		93	0.33	31	NM_001041	14	0.29	4	A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	CCDS3196.1																																																																																					0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350116.1		NM_001041		C	164777693	T	C	164777693	2	2	92	1	0	0	0	0	0	0	0	1	14320	1451	51	4		4	SI	3	164777693	Silent	SNP	T	TCGA-SN-A84W-01A-11D-A435-10	35502429	164777693	33244737	22	6459											
ZNF732	654254	hgsc.bcm.edu	37	chr4	265103	265103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtttactcaggtatgTggaccatccaaaggctttgc	9	14	9	9	0	1	0	1	0	0	0	2	1	2	1	2	3	2	3	2	3	4	5			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr4:265103T>C	ENST00000419098.1	-	4	1553	c.1543A>G	c.(1543-1545)Aca>Gca	p.T515A		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	515					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)|lung(2)	3						CTCAGGTATGTGGACCATCCA	0.388																																					p.T514A													ZNF732_ENST00000419098,NS,carcinoma,0,1	ZNF732_ENST00000419098	0	1	0			c.A1540G												74	66	68					4																	265103		692	1591	2283	SO:0001583	missense	654254	exon3			GGTATGTGGACCA	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1543A>G	4.37:g.265103T>C	ENSP00000415774:p.Thr515Ala		115	0.0086956522	1		100	0.04	4	NM_001137608	3	0	0		Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	T	4.709	0.131914	0.08981	.	.	ENSG00000186777	ENST00000419098	T	0.07114	3.22	0.977	-1.95	0.07548	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.38200	-0.9672	9	0.56958	D	0.05	.	4.0207	0.09664	0.4203:0.0:0.0:0.5797	.	515	B4DXR9	ZN732_HUMAN	A	515	ENSP00000415774:T515A	ENSP00000415774:T515A	T	-	1	0	ZNF732	255103	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-1.147000	0.03188	-0.820000	0.04318	-0.903000	0.02851	ACA			0.388	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000357937.2		NM_001137608		C	265103	T	C	265103	3	2	92	1	0	0	0	0	1	0	0	0	18146	1696	59	4	218	4	ZNF732	4	265103	Missense_Mutation	SNP	T	TCGA-SN-A84W-01A-11D-A435-10		265103	190889173	23	6460											
PHOX2B	8929	mdanderson.org	37	chr4	41747890	41747890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttggagcgaagataggacGctggcgaagggacccccaag	11	5	15	10	3	0	1	0	0	0	1	0	6	0	4	2	4	1	1	2	4	4	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr4:41747890G>T	ENST00000226382.2	-	3	1238	c.879C>A	c.(877-879)agC>agA	p.S293R	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	293					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						AAGATAGGACGCTGGCGAAGG	0.677			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.S293R			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	.	.			0			c.C879A												25	33	30					4																	41747890		2203	4300	6503	SO:0001583	missense	8929	exon3	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	TAGGACGCTGGCG	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.879C>A	4.37:g.41747890G>T	ENSP00000226382:p.Ser293Arg		69	0	0		47	0.06	3	NM_003924	0		0	Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648910	0.29336	.	.	ENSG00000109132	ENST00000226382	D	0.91631	-2.88	3.93	3.09	0.35607	.	0.044651	0.85682	N	0.000000	D	0.90652	0.7068	N	0.19112	0.55	0.49483	D	0.999799	D	0.71674	0.998	D	0.74348	0.983	D	0.88938	0.3378	10	0.54805	T	0.06	.	7.5525	0.27806	0.2072:0.0:0.7928:0.0	.	293	Q99453	PHX2B_HUMAN	R	293	ENSP00000226382:S293R	ENSP00000226382:S293R	S	-	3	2	PHOX2B	41442647	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.924000	0.48876	0.855000	0.35359	-0.657000	0.03884	AGC			0.677	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216832.2				T	41747890	G	T	41747890	3	4	92	1	0	0	0	0	1	0	0	0	11876	1078	38	1	69	1	PHOX2B	4	41747890	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	41482787	41747890	149406386	24	6461											
CENPE	1062	mdanderson.org	37	chr4	104070563	104070563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttttcttggagttgctgGctcttaaaatgcacaatttt	8	19	8	6	0	2	0	0	0	2	0	2	1	2	1	0	2	2	5	0	2	3	7			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr4:104070563G>T	ENST00000265148.3	-	27	3488	c.3399C>A	c.(3397-3399)agC>agA	p.S1133R	CENPE_ENST00000380026.3_Missense_Mutation_p.S1108R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1133					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GGAGTTGCTGGCTCTTAAAAT	0.289																																					p.S1133R													.	.			0			c.C3399A												36	35	36					4																	104070563		2201	4288	6489	SO:0001583	missense	1062	exon27			TTGCTGGCTCTTA	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3399C>A	4.37:g.104070563G>T	ENSP00000265148:p.Ser1133Arg		62	0.0161290323	1		33	0.09	3	NM_001813	12	0	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385347	0.25031	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72167	-0.63;-0.63	4.0	3.15	0.36227	.	.	.	.	.	T	0.53530	0.1802	L	0.44542	1.39	0.29564	N	0.850398	P;P	0.43701	0.815;0.514	B;B	0.33890	0.172;0.047	T	0.47058	-0.9146	9	0.18276	T	0.48	.	7.5109	0.27573	0.1193:0.0:0.8807:0.0	.	1108;1133	Q02224-3;Q02224	.;CENPE_HUMAN	R	1133;1133;1108	ENSP00000265148:S1133R;ENSP00000369365:S1108R	ENSP00000265148:S1133R	S	-	3	2	CENPE	104290012	0.008000	0.16893	0.981000	0.43875	0.980000	0.70556	0.203000	0.17315	1.012000	0.39366	0.591000	0.81541	AGC			0.289	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding						T	104070563	G	T	104070563	3	4	92	1	0	0	0	0	1	0	0	0	3232	1194	42	2	4798	2	CENPE	4	104070563	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	62322673	104070563	87083713	25	6462											
TRPC3	7222	broad.mit.edu;bcgsc.ca	37	chr4	122853966	122853966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacagccagctgcagcgcGttctggcccatgtagtccac	7	7	10	17	2	1	0	0	0	1	0	2	0	2	0	4	1	4	4	4	1	1	2	rs199887234		TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr4:122853966G>T	ENST00000379645.3	-	2	520	c.447C>A	c.(445-447)aaC>aaA	p.N149K	TRPC3_ENST00000513531.1_Missense_Mutation_p.N76K|TRPC3_ENST00000264811.5_Missense_Mutation_p.N76K	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	64					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGCAGCGCGTTCTGGCCCA	0.637																																					p.N149K													.	TRPC3	201		0			c.C447A												60	54	56					4																	122853966		2203	4300	6503	SO:0001583	missense	7222	exon2			CAGCGCGTTCTGG	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.447C>A	4.37:g.122853966G>T	ENSP00000368966:p.Asn149Lys		160	0	0		104	0.06	6	NM_001130698	2	0	0	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571365	0.65765	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.06	5.95	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	L	0.58810	1.83	0.43448	D	0.995639	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	T	0.76997	-0.2751	10	0.62326	D	0.03	-38.2855	9.2419	0.37502	0.3323:0.0:0.6677:0.0	.	76;149	E9PCJ9;Q5G1L5	.;.	K	76;149;76;76	ENSP00000264811:N76K;ENSP00000368966:N149K;ENSP00000426899:N76K;ENSP00000422214:N76K	ENSP00000264811:N76K	N	-	3	2	TRPC3	123073416	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	0.258000	0.18387	0.425000	0.26087	-0.119000	0.15052	AAC			0.637	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000364252.1		NM_003305		T	122853966	G	T	122853966	3	4	92	1	0	0	0	0	1	0	0	0	16603	1136	40	1	2362	1	TRPC3	4	122853966	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	18783403	122853966	68300310	26	6463											
ARHGAP10	79658	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	148802993	148802993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgattatttgcagggggAcggagaggtgttctttttga	10	14	14	3	1	1	3	0	2	1	1	1	5	1	4	0	4	1	2	0	4	2	5			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr4:148802993A>G	ENST00000336498.3	+	10	1183	c.944A>G	c.(943-945)gAc>gGc	p.D315G	ARHGAP10_ENST00000414545.2_5'Flank	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGCAGGGGGACGGAGAGGTG	0.408																																					p.D315G													.	ARHGAP10	92		0			c.A944G												148	144	145					4																	148802993		2203	4300	6503	SO:0001583	missense	79658	exon10			AGGGGGACGGAGA	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.944A>G	4.37:g.148802993A>G	ENSP00000336923:p.Asp315Gly		82	0	0		56	0.07	4	NM_024605	36	0	0	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368824	0.24771	.	.	ENSG00000071205	ENST00000336498	T	0.40756	1.02	4.94	4.94	0.65067	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053409	0.85682	D	0.000000	T	0.38692	0.1050	L	0.56769	1.78	0.80722	D	1	B	0.31026	0.304	B	0.29077	0.098	T	0.19257	-1.0311	10	0.19590	T	0.45	.	14.2898	0.66270	1.0:0.0:0.0:0.0	.	315	A1A4S6	RHG10_HUMAN	G	315	ENSP00000336923:D315G	ENSP00000336923:D315G	D	+	2	0	ARHGAP10	149022443	1.000000	0.71417	0.826000	0.32828	0.073000	0.16967	8.306000	0.89962	1.853000	0.53794	0.482000	0.46254	GAC			0.408	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365005.1		NM_024605		G	148802993	A	G	148802993	3	3	92	1	0	0	0	0	1	0	0	0	862	275	10	4	982	4	ARHGAP10	4	148802993	Missense_Mutation	SNP	A	TCGA-SN-A84W-01A-11D-A435-10	25949027	148802993	42351283	27	6464											
MOCS2	4338	mdanderson.org	37	chr5	52404454	52404454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttatttcagcactttttGcaaaatacaatacttcaacc	13	15	3	10	0	2	0	2	0	0	0	2	0	2	0	1	0	5	3	1	0	7	7			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr5:52404454G>A	ENST00000361377.4	-	2	79	c.38C>T	c.(37-39)gCa>gTa	p.A13V	MOCS2_ENST00000582677.1_Missense_Mutation_p.A13V|MOCS2_ENST00000450852.3_Missense_Mutation_p.A13V|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000527216.1_Missense_Mutation_p.A8V|MOCS2_ENST00000510818.2_Missense_Mutation_p.A13V|CTD-2366F13.1_ENST00000499459.2_RNA|CTD-2366F13.1_ENST00000512301.1_RNA|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000508922.1_Missense_Mutation_p.A13V|MOCS2_ENST00000584946.1_Missense_Mutation_p.A13V					molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AGCACTTTTTGCAAAATACAA	0.368																																					p.A13V													.	.			0			c.C38T												84	75	78					5																	52404454		1829	4089	5918	SO:0001583	missense	4338	exon2			CTTTTTGCAAAAT	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000361377.4:c.38C>T	5.37:g.52404454G>A	ENSP00000355160:p.Ala13Val		79	0	0		45	0.07	3	NM_176806	94	0	0		Missense_Mutation	SNP	ENST00000361377.4	37	CCDS47205.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160780	0.94727	.	.	ENSG00000164172	ENST00000361377;ENST00000510818;ENST00000450852;ENST00000508922	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.96	5.96	0.96718	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);	.	.	.	.	D	0.90772	0.7103	.	.	.	0.39116	D	0.961578	D	0.89917	1.0	D	0.87578	0.998	D	0.91566	0.5268	8	0.87932	D	0	.	20.0324	0.97544	0.0:0.0:1.0:0.0	.	13	O96033	MOC2A_HUMAN	V	13	ENSP00000355160:A13V;ENSP00000424267:A13V;ENSP00000411022:A13V;ENSP00000426274:A13V	ENSP00000355160:A13V	A	-	2	0	MOCS2	52440211	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.674000	0.83992	2.832000	0.97577	0.655000	0.94253	GCA			0.368	MOCS2-004	KNOWN	alternative_3_UTR|NMD_exception|basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000367796.3		NM_183418		A	52404454	G	A	52404454	3	1	92	1	0	0	0	0	1	0	0	0	9707	1319	46	2	739	2	MOCS2	5	52404454	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10		52404454	128510806	28	6465											
TTC37	9652	mdanderson.org	37	chr5	94803686	94803686	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctttccaaaagacgccGtgtctctctggaaaaaaaaa	15	9	6	11	2	3	1	0	0	3	1	5	2	4	2	2	1	0	0	2	1	6	1	rs372395062		TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr5:94803686G>T	ENST00000358746.2	-	42	4802	c.4504C>A	c.(4504-4506)Cgg>Agg	p.R1502R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1502						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						AAAAGACGCCGTGTCTCTCTG	0.368																																					p.R1502R													.	.			0			c.C4504A												80	76	77					5																	94803686		2203	4300	6503	SO:0001819	synonymous_variant	9652	exon42			GACGCCGTGTCTC	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.4504C>A	5.37:g.94803686G>T			79	0	0		41	0.07	3	NM_014639	152	0	0	O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	CCDS4072.1																																																																																					0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241651.1		NM_014639		T	94803686	G	T	94803686	2	4	92	1	0	0	0	0	0	0	0	1	16729	1144	40	1		1	TTC37	5	94803686	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	42399232	94803686	86111574	29	6466											
CAMK4	814	mdanderson.org	37	chr5	110730442	110730442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattacagtgagcgagatGctgcagatgccgttaaacaa	14	9	11	7	2	0	3	0	1	0	2	0	5	0	3	1	0	6	3	1	0	5	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr5:110730442G>T	ENST00000282356.4	+	5	819	c.421G>T	c.(421-423)Gct>Tct	p.A141S	CAMK4_ENST00000512453.1_Missense_Mutation_p.A141S	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGAGCGAGATGCTGCAGATGC	0.393																																					p.A141S													.	.			0			c.G421T												143	143	143					5																	110730442		2202	4300	6502	SO:0001583	missense	814	exon5			CGAGATGCTGCAG	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.421G>T	5.37:g.110730442G>T	ENSP00000282356:p.Ala141Ser		87	0.0114942529	1		43	0.07	3	NM_001744	17	0	0	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024727	0.93518	.	.	ENSG00000152495	ENST00000508074;ENST00000512453;ENST00000282356	T;T;T	0.68025	-0.3;-0.3;-0.3	5.65	5.65	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);	0.000000	0.85682	D	0.000000	T	0.81269	0.4787	M	0.65498	2.005	0.58432	D	0.999995	D	0.69078	0.997	D	0.77004	0.989	T	0.82442	-0.0455	10	0.87932	D	0	.	18.5035	0.90890	0.0:0.0:1.0:0.0	.	141	Q16566	KCC4_HUMAN	S	141	ENSP00000426940:A141S;ENSP00000422634:A141S;ENSP00000282356:A141S	ENSP00000282356:A141S	A	+	1	0	CAMK4	110758341	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.627000	0.83176	2.680000	0.91292	0.467000	0.42956	GCT			0.393	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250719.2		NM_001744		T	110730442	G	T	110730442	3	4	92	1	0	0	0	0	1	0	0	0	2607	1319	46	2	439	2	CAMK4	5	110730442	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	15926756	110730442	70184818	30	6467											
ADAM19	8728	hgsc.bcm.edu	37	chr5	156915307	156915307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttggtgcggggggaattGgccggcttggaggaggcctc	6	9	19	7	2	0	0	0	0	0	0	1	3	0	3	2	9	1	1	2	9	2	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr5:156915307G>T	ENST00000517905.1	-	21	2560	c.2516C>A	c.(2515-2517)cCa>cAa	p.P839Q	ADAM19_ENST00000430702.2_Missense_Mutation_p.P572Q|ADAM19_ENST00000257527.4_Missense_Mutation_p.P839Q|ADAM19_ENST00000394020.1_Missense_Mutation_p.P841Q			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	839					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGGGAATTGGCCGGCTTGG	0.567																																					p.P839Q													.	.			0			c.C2516A												93	99	97					5																	156915307		2203	4300	6503	SO:0001583	missense	8728	exon21			GGAATTGGCCGGC	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2516C>A	5.37:g.156915307G>T	ENSP00000428654:p.Pro839Gln		137	0	0		88	0.05	4	NM_033274	32	0	0	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.24|18.24	3.579162|3.579162	0.65878|0.65878	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T;T|.	0.02140|.	4.43;4.57;4.59;4.54|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.66237|0.66237	0.2769|0.2769	L|L	0.41492|0.41492	1.28|1.28	0.54753|0.54753	D|D	0.999982|0.999982	D;D;D|.	0.89917|.	0.996;1.0;0.999|.	D;D;D|.	0.85130|.	0.936;0.997;0.974|.	T|T	0.61098|0.61098	-0.7131|-0.7131	10|5	0.72032|.	D|.	0.01|.	.|.	17.9944|17.9944	0.89178|0.89178	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	839;839;572|.	Q9H013-2;Q9H013;E9PD32|.	.;ADA19_HUMAN;.|.	Q|K	572;839;841;839|410	ENSP00000414088:P572Q;ENSP00000257527:P839Q;ENSP00000377588:P841Q;ENSP00000428654:P839Q|.	ENSP00000257527:P839Q|.	P|Q	-|-	2|1	0|0	ADAM19|ADAM19	156847885|156847885	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.329000|0.329000	0.28539|0.28539	5.816000|5.816000	0.69222|0.69222	2.688000|2.688000	0.91661|0.91661	0.491000|0.491000	0.48974|0.48974	CCA|CAA			0.567	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000373918.1		NM_033274		T	156915307	G	T	156915307	3	4	92	1	0	0	0	0	1	0	0	0	240	1348	47	3	252	3	ADAM19	5	156915307	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	46184865	156915307	23999953	31	6468											
ABCF1	23	mdanderson.org	37	chr6	30552321	30552321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttctcagggggctggCgcatgcgtgtctccctggcc	5	9	15	12	2	2	1	1	0	2	1	4	1	2	1	2	4	1	3	2	4	1	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr6:30552321C>T	ENST00000326195.8	+	14	1481	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	ABCF1_ENST00000376545.3_Missense_Mutation_p.R419C|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	457	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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						AGGGGGCTGGCGCATGCGTGT	0.622																																					p.R457C													.	.			0			c.C1369T												84	76	79					6																	30552321		1508	2708	4216	SO:0001583	missense	23	exon14			GGCTGGCGCATGC	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.1369C>T	6.37:g.30552321C>T	ENSP00000313603:p.Arg457Cys		45	0	0		48	0.06	3	NM_001025091	139	0	0	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696377	0.68386	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943	D;D	0.94793	-3.52;-3.52	4.98	3.15	0.36227	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.155494	0.53938	D	0.000049	D	0.96667	0.8912	M	0.91196	3.185	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	D	0.96228	0.9166	10	0.87932	D	0	-6.0206	8.9403	0.35725	0.2985:0.5569:0.1446:0.0	.	419;457;457	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	C	457;419;436	ENSP00000313603:R457C;ENSP00000365728:R419C	ENSP00000313603:R457C	R	+	1	0	ABCF1	30660300	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.142000	0.42177	0.645000	0.30675	0.462000	0.41574	CGC			0.622	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000076137.3				T	30552321	C	T	30552321	3	4	92	1	0	0	0	0	1	0	0	0	65	768	27	1	1423	1	ABCF1	6	30552321	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10		30552321	140562746	32	6469											
RDBP	7936	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	31922436	31922437	+	Frame_Shift_Del	DEL	TC	TC	-																															gatccctgtcccgctctctgTctctgtctcgatcccggtct																								rs556062290	byFrequency	TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	TC	TC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr6:31922436_31922437delTC	ENST00000375429.3	-	7	863_864	c.637_638delGA	c.(637-639)gacfs	p.D213fs	MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Frame_Shift_Del_p.D183fs|NELFE_ENST00000375425.5_Frame_Shift_Del_p.D220fs	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	213	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ccgctctctgtctctgtctcga	0.663																																					p.213_213del													.	.			0			c.638_639del																																									SO:0001589	frameshift_variant	7936	exon7			TCTCTGTCTCTGT	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.637_638delGA	6.37:g.31922438_31922439delTC	ENSP00000364578:p.Asp213fs		130	0	0		133	0.17	23	NM_002904	399	0	0	A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Frame_Shift_Del	DEL	ENST00000375429.3	37	CCDS4730.1																																																																																					0.663	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000076047.4				-	31922437	TC	-	31922436	7	5	92	1	0	1	0	1	0	0	0	0	13211	1667	58	0	524	0	RDBP	6	31922436	Frame_Shift_Del	DEL	TC	TCGA-SN-A84W-01A-11D-A435-10	1370115	31922436	139192631	33	6470											
COL12A1	1303	mdanderson.org	37	chr6	75798829	75798829	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctagcaaacctacctgggggGccaggcagcccccgaggtcc	8	4	13	16	1	0	0	0	0	0	0	1	1	1	0	6	5	4	2	6	5	3	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr6:75798829G>T	ENST00000322507.8	-	64	9312	c.9003C>A	c.(9001-9003)ggC>ggA	p.G3001G	COL12A1_ENST00000416123.2_Silent_p.G2925G|COL12A1_ENST00000345356.6_Silent_p.G1837G|COL12A1_ENST00000483888.2_Silent_p.G2997G|COL12A1_ENST00000511023.1_5'Flank	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3001	Triple-helical region (COL1) with 2 imperfections.				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						TACCTGGGGGGCCAGGCAGCC	0.478																																					p.G3001G													.	.			0			c.C9003A												34	38	37					6																	75798829		1816	4071	5887	SO:0001819	synonymous_variant	1303	exon64			TGGGGGGCCAGGC	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.9003C>A	6.37:g.75798829G>T			49	0	0		38	0.08	3	NM_004370	242	0	1	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																					0.478	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041249.3		NM_004370		T	75798829	G	T	75798829	2	4	92	1	0	0	0	0	0	0	0	1	3671	1190	42	2		2	COL12A1	6	75798829	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	43876393	75798829	95316238	34	6471											
FERD3L	222894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	19184670	19184670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctttcgcggatgttggCggcctggcgctgggcgtagg	2	11	17	11	5	0	0	0	0	0	0	2	1	1	1	2	6	0	3	2	6	1	4			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr7:19184670C>T	ENST00000275461.3	-	1	374	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	106	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CGGATGTTGGCGGCCTGGCGC	0.602																																					p.A106T													FERD3L,NS,carcinoma,0,1	FERD3L	0	1	0			c.G316A												87	73	78					7																	19184670		2203	4300	6503	SO:0001583	missense	222894	exon1			TGTTGGCGGCCTG	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.316G>A	7.37:g.19184670C>T	ENSP00000275461:p.Ala106Thr		108	0	0		104	0.36	37	NM_152898	0		0	Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495559	0.96355	.	.	ENSG00000146618	ENST00000275461	D	0.98120	-4.73	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99731	1.1012	10	0.87932	D	0	-7.2535	19.751	0.96268	0.0:1.0:0.0:0.0	.	106	Q96RJ6	FER3L_HUMAN	T	106	ENSP00000275461:A106T	ENSP00000275461:A106T	A	-	1	0	FERD3L	19151195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.693000	0.91896	0.650000	0.86243	GCC			0.602	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207627.1				T	19184670	C	T	19184670	3	4	92	1	0	0	0	0	1	0	0	0	5829	768	27	1	188	1	FERD3L	7	19184670	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10		19184670	139953993	35	6472											
MEPCE	56257	mdanderson.org	37	chr7	100028001	100028001	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcgccggggagggggCgggacagagctgggtccccc	6	2	22	11	3	0	1	0	0	0	1	1	5	1	4	3	7	2	1	3	7	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr7:100028001C>G	ENST00000310512.2	+	1	748	c.360C>G	c.(358-360)ggC>ggG	p.G120G	ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_Intron|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	120	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)					GGGGAGGGGGCGGGACAGAGC	0.756																																					p.G120G													.	.			0			c.C360G												3	4	4					7																	100028001		1105	2437	3542	SO:0001819	synonymous_variant	56257	exon1			AGGGGGCGGGACA	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.360C>G	7.37:g.100028001C>G			10	0	0		15	0.2	3	NM_019606	8	0	0	B3KP86|D6W5V7|Q9NPD4	Silent	SNP	ENST00000310512.2	37	CCDS5693.1																																																																																					0.756	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339135.1				G	100028001	C	G	100028001	2	3	92	1	0	0	0	0	0	0	0	1	9493	755	27	5		5	MEPCE	7	100028001	Silent	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	80843331	100028001	59110662	36	6473											
PCOLCE	5118	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	100203305	100203305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccgccgccaggtcatcGcgctgaccttcgagaagttt	6	8	11	16	6	1	2	1	1	0	1	3	3	1	2	5	1	0	2	5	1	1	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr7:100203305G>A	ENST00000223061.5	+	5	875	c.595G>A	c.(595-597)Gcg>Acg	p.A199T	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	199	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGGTCATCGCGCTGACCTT	0.682																																					p.A199T													.	.			0			c.G595A												17	17	17					7																	100203305		2183	4288	6471	SO:0001583	missense	5118	exon5			GTCATCGCGCTGA	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.595G>A	7.37:g.100203305G>A	ENSP00000223061:p.Ala199Thr		237	0	0		204	0.28	58	NM_002593	1555	0.3	459	B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945255	0.53079	.	.	ENSG00000106333	ENST00000223061	T	0.17370	2.28	5.04	-1.29	0.09288	CUB (5);	0.737792	0.12876	N	0.431897	T	0.06280	0.0162	N	0.03209	-0.39	0.20764	N	0.999859	B	0.17268	0.021	B	0.20384	0.029	T	0.33394	-0.9870	10	0.38643	T	0.18	0.7893	5.23	0.15416	0.2771:0.0:0.3424:0.3806	.	199	Q15113	PCOC1_HUMAN	T	199	ENSP00000223061:A199T	ENSP00000223061:A199T	A	+	1	0	PCOLCE	100041241	0.931000	0.31567	0.728000	0.30774	0.664000	0.39144	0.752000	0.26362	-0.502000	0.06596	0.467000	0.42956	GCG			0.682	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345285.1		NM_002593		A	100203305	G	A	100203305	3	1	92	1	0	0	0	0	1	0	0	0	11611	1087	38	1	613	1	PCOLCE	7	100203305	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	175304	100203305	58935358	37	6474											
REPIN1	29803	mdanderson.org	37	chr7	150068974	150068974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaaggctctggggccccGgcccaggggccgccccgcgg	4	2	17	18	4	1	0	0	0	1	0	1	0	1	0	7	7	1	1	7	7	1	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr7:150068974G>T	ENST00000425389.2	+	1	722	c.644G>T	c.(643-645)cGg>cTg	p.R215L	REPIN1_ENST00000489432.2_Missense_Mutation_p.R272L|REPIN1_ENST00000397281.2_Missense_Mutation_p.R215L|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R215L|REPIN1_ENST00000540729.1_Missense_Mutation_p.R215L	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	215					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTggggccccggcccaggggc	0.721																																					p.R272L													.	.			0			c.G815T												7	10	9					7																	150068974		1730	3856	5586	SO:0001583	missense	29803	exon3			GGCCCCGGCCCAG	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.644G>T	7.37:g.150068974G>T	ENSP00000388287:p.Arg215Leu		37	0	0		36	0.08	3	NM_001099695	91	0	0	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065843	0.76187	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.07444	3.22;3.22;3.22;3.19;3.44;3.26;3.22	5.08	5.08	0.68730	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.74023	0.982;0.982	T	0.34179	-0.9839	9	0.72032	D	0.01	-13.6971	15.9814	0.80114	0.0:0.0:1.0:0.0	.	272;215	C9J3L7;Q9BWE0	.;REPI1_HUMAN	L	215;215;215;272;274;275;215	ENSP00000445016:R215L;ENSP00000380451:R215L;ENSP00000407714:R215L;ENSP00000417291:R272L;ENSP00000419789:R274L;ENSP00000419872:R275L;ENSP00000388287:R215L	ENSP00000380451:R215L	R	+	2	0	REPIN1	149699907	0.003000	0.15002	0.957000	0.39632	0.991000	0.79684	0.179000	0.16840	2.353000	0.79882	0.462000	0.41574	CGG			0.721	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000376940.1		NM_014374		T	150068974	G	T	150068974	3	4	92	1	0	0	0	0	1	0	0	0	13250	1116	39	1	821	1	REPIN1	7	150068974	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	49865669	150068974	9069689	38	6475											
ZHX2	22882	broad.mit.edu	37	chr8	123966158	123966158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggtcggggaggaggatgCgatctcagatagatcagata	12	7	16	6	3	2	3	2	0	1	3	4	8	2	6	0	5	1	0	0	5	2	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr8:123966158C>T	ENST00000314393.4	+	3	3243	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	803					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GAGGAGGATGCGATCTCAGAT	0.622																																					p.A803V	Esophageal Squamous(94;1056 1388 11767 13799 49639)												.	ZHX2	106		0			c.C2408T												109	85	93					8																	123966158		2203	4300	6503	SO:0001583	missense	22882	exon3			AGGATGCGATCTC	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2408C>T	8.37:g.123966158C>T	ENSP00000314709:p.Ala803Val		148	0	0		165	0.03	5	NM_014943	62	0	0		Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901268	0.52227	.	.	ENSG00000178764	ENST00000314393	T	0.18960	2.18	6.04	4.16	0.48862	.	0.312006	0.29876	N	0.010969	T	0.14485	0.0350	L	0.27053	0.805	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.14839	-1.0458	10	0.52906	T	0.07	-13.4376	9.3439	0.38096	0.1059:0.7139:0.1143:0.0659	.	803	Q9Y6X8	ZHX2_HUMAN	V	803	ENSP00000314709:A803V	ENSP00000314709:A803V	A	+	2	0	ZHX2	124035339	0.002000	0.14202	0.269000	0.24586	0.446000	0.32137	0.624000	0.24462	1.576000	0.49790	0.561000	0.74099	GCG			0.622	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381709.1		NM_014943		T	123966158	C	T	123966158	3	4	92	1	0	0	0	0	1	0	0	0	17699	768	27	1	2410	1	ZHX2	8	123966158	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10		123966158	22397864	39	6476											
PRSS3	5646	ucsc.edu	37	chr9	33798037	33798037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctccagctgctggcacTgagtgcctcatctccggctg	5	9	10	17	1	2	1	1	1	1	0	4	1	3	1	5	2	3	4	5	2	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr9:33798037T>C	ENST00000361005.5	+	3	582	c.582T>C	c.(580-582)acT>acC	p.T194T	PRSS3_ENST00000342836.4_Silent_p.T151T|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Silent_p.T137T|PRSS3_ENST00000429677.3_Silent_p.T130T	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	194	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTGCTGGCACTGAGTGCCTCA	0.562																																					p.T194T													PRSS3_ENST00000361005,NS,carcinoma,0,3	PRSS3	79	3	0			c.T582C												161	127	138					9																	33798037		2203	4300	6503	SO:0001819	synonymous_variant	5646	exon3			TGGCACTGAGTGC		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.582T>C	9.37:g.33798037T>C			125	0	0		100	0.03	3	NM_007343	45	0.67	30	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																					0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000052121.1	rescued with RNA-seq	NM_002771		C	33798037	T	C	33798037	2	2	92	1	0	0	0	0	0	0	0	1	12642	1567	55	4		4	PRSS3	9	33798037	Silent	SNP	T	TCGA-SN-A84W-01A-11D-A435-10		33798037	107415394	40	6477											
SPTAN1	6709	mdanderson.org	37	chr9	131337577	131337577	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagatatggctgctcatGaagaaagagttaatgaagtg	17	9	11	4	0	1	5	1	2	0	3	1	5	1	5	0	1	2	3	0	1	6	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr9:131337577G>T	ENST00000372731.4	+	5	714	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E202*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E202*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	202					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						GGCTGCTCATGAAGAAAGAGT	0.378																																					p.E202X	NSCLC(120;833 1744 2558 35612 37579)												.	.			0			c.G604T												81	85	84					9																	131337577		2203	4300	6503	SO:0001587	stop_gained	6709	exon5			GCTCATGAAGAAA	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.604G>T	9.37:g.131337577G>T	ENSP00000361816:p.Glu202*		64	0	0		45	0.09	4	NM_003127	67	0	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	38	6.791923	0.97841	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.0874	0.93209	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000350882:E202X	E	+	1	0	SPTAN1	130377398	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.350000	0.97070	2.762000	0.94881	0.467000	0.42956	GAA			0.378	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054472.1		NM_003127		T	131337577	G	T	131337577	4	4	92	1	0	0	0	0	0	1	0	0	15140	1291	45	3	618	3	SPTAN1	9	131337577	Nonsense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	97539540	131337577	9875854	41	6478											
CHST3	9469	mdanderson.org	37	chr10	73768166	73768166	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaactggcgcgggacgcCgccgccctcaccaaccgctc	8	4	10	19	6	1	0	1	0	0	0	2	1	1	1	5	2	3	1	5	2	3	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr10:73768166C>T	ENST00000373115.4	+	3	1814	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	459					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)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CGCGGGACGCCGCCGCCCTCA	0.692																																					p.A459A													.	.			0			c.C1377T												12	12	12					10																	73768166		2167	4251	6418	SO:0001819	synonymous_variant	9469	exon3			GGACGCCGCCGCC	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1377C>T	10.37:g.73768166C>T			55	0	0		31	0.1	3	NM_004273	5	0	0	O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	CCDS7312.1																																																																																					0.692	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048563.1		NM_004273		T	73768166	C	T	73768166	2	4	92	1	0	0	0	0	0	0	0	1	3407	639	23	1		1	CHST3	10	73768166	Silent	SNP	C	TCGA-SN-A84W-01A-11D-A435-10		73768166	61766581	42	6479											
SEC24C	9632	broad.mit.edu;mdanderson.org	37	chr10	75519799	75519799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaacatcgctggcttcaGcctcaggaagtttccctaac	10	9	7	15	1	2	0	2	0	0	0	4	1	3	1	3	2	3	3	3	2	3	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr10:75519799G>T	ENST00000339365.2	+	6	667	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S	SEC24C_ENST00000345254.4_Missense_Mutation_p.A169S|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.A27S|SEC24C_ENST00000546025.1_Missense_Mutation_p.A27S	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	169					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)	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(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GCTGGCTTCAGCCTCAGGAAG	0.537																																					p.A169S													.	SEC24C	86		0			c.G505T												99	92	94					10																	75519799		2200	4295	6495	SO:0001583	missense	9632	exon6			GCTTCAGCCTCAG	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.505G>T	10.37:g.75519799G>T	ENSP00000343405:p.Ala169Ser		94	0	0		47	0.06	3	NM_004922	119	0	0	B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982471	0.18889	.	.	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;D	0.81579	-1.02;-1.02;-1.51	5.39	4.47	0.54385	.	0.568667	0.21392	N	0.075298	T	0.70228	0.3200	L	0.40543	1.245	0.80722	D	1	B;B;B	0.18610	0.003;0.029;0.017	B;B;B	0.19946	0.002;0.027;0.007	T	0.62196	-0.6905	10	0.18710	T	0.47	-13.4655	9.9295	0.41514	0.1536:0.0:0.8464:0.0	.	27;169;169	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	S	27;169;169;27	ENSP00000321845:A169S;ENSP00000343405:A169S;ENSP00000402913:A27S	ENSP00000343405:A169S	A	+	1	0	SEC24C	75189805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.000000	0.40816	2.700000	0.92200	0.561000	0.74099	GCC			0.537	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048679.1				T	75519799	G	T	75519799	3	4	92	1	0	0	0	0	1	0	0	0	14019	971	34	2	519	2	SEC24C	10	75519799	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	1751633	75519799	60014948	43	6480											
GPR120	338557	mdanderson.org	37	chr10	95326725	95326725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtactcaacctcttctGcgcggacctgctcttcatca	6	12	7	16	2	6	0	3	0	3	0	6	1	6	1	3	2	4	2	3	2	2	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr10:95326725G>T	ENST00000371483.4	+	1	304	c.248G>T	c.(247-249)tGc>tTc	p.C83F	FFAR4_ENST00000604414.1_Missense_Mutation_p.C83F|FFAR4_ENST00000371481.4_Missense_Mutation_p.C83F	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	83					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)										AACCTCTTCTGCGCGGACCTG	0.672																																					p.C83F													O3FAR1,NS,carcinoma,+1,1	O3FAR1	1	1	0			c.G248T												50	48	49					10																	95326725		2203	4298	6501	SO:0001583	missense	338557	exon1			TCTTCTGCGCGGA		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.248G>T	10.37:g.95326725G>T	ENSP00000360538:p.Cys83Phe		79	0	0		43	0.07	3	NM_001195755	1	0	0	Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081513	0.55753	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.34072	1.38;1.38	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.36672	1.1	0.44030	D	0.996757	D;D	0.76494	0.999;0.999	D;D	0.77557	0.967;0.99	T	0.52472	-0.8571	10	0.62326	D	0.03	-34.7135	18.9768	0.92740	0.0:0.0:1.0:0.0	.	83;83	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	F	83	ENSP00000360536:C83F;ENSP00000360538:C83F	ENSP00000360536:C83F	C	+	2	0	O3FAR1	95316715	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	6.269000	0.72558	2.714000	0.92807	0.561000	0.74099	TGC			0.672	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000083179.1		NM_181745		T	95326725	G	T	95326725	3	4	92	1	0	0	0	0	1	0	0	0	6650	1319	46	2	250	2	GPR120	10	95326725	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	19806926	95326725	40208022	44	6481											
C10orf129	142827	mdanderson.org	37	chr10	96988497	96988497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggctacttctggtggtctGgtagagttgatgatgttgcc	6	14	14	7	1	2	3	0	2	2	1	2	3	2	3	1	4	2	4	1	4	2	5			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr10:96988497G>T	ENST00000394005.3	+	10	1408	c.1399G>T	c.(1399-1401)Ggt>Tgt	p.G467C	RP11-310E22.4_ENST00000451737.1_RNA|C10orf129_ENST00000341686.3_Missense_Mutation_p.G467C|C10orf129_ENST00000430183.1_3'UTR			Q6P461	ACSM6_HUMAN		467					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)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTGGTGGTCTGGTAGAGTTGA	0.493																																					p.G467C													.	.			0			c.G1399T												449	360	387					10																	96988497		692	1591	2283	SO:0001583	missense	142827	exon11			TGGTCTGGTAGAG																												ENST00000394005.3:c.1399G>T	10.37:g.96988497G>T	ENSP00000377573:p.Gly467Cys		82	0	0		46	0.07	3	NM_207321	2	0	0	A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803932	0.50315	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.65178	-0.14;-0.14	0.962	0.962	0.19643	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.77896	0.4199	M	0.89030	3	0.21290	N	0.999738	D	0.89917	1.0	D	0.97110	1.0	T	0.62544	-0.6832	9	0.87932	D	0	.	5.2137	0.15331	0.0:0.0:1.0:0.0	.	467	Q6P461	ACSM6_HUMAN	C	493;467;467	ENSP00000340296:G467C;ENSP00000377573:G467C	ENSP00000340296:G467C	G	+	1	0	C10orf129	96978487	1.000000	0.71417	0.196000	0.23383	0.771000	0.43674	1.562000	0.36353	0.790000	0.33803	0.313000	0.20887	GGT			0.493	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049506.2				T	96988497	G	T	96988497	3	4	92	1	0	0	0	0	1	0	0	0	1595	1348	47	3	1437	3	C10orf129	10	96988497	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	1661772	96988497	38546250	45	6482											
PDCD11	22984	mdanderson.org	37	chr10	105160234	105160234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagttgaaaatcgaaaaGagagaaagcagcaagtccgc	21	4	10	6	2	0	3	0	1	0	2	2	5	1	3	1	0	2	3	1	0	8	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr10:105160234G>T	ENST00000369797.3	+	3	277	c.183G>T	c.(181-183)aaG>aaT	p.K61N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	61					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)		AAATCGAAAAGAGAGAAAGCA	0.408																																					p.K61N													PDCD11,NS,carcinoma,0,1	PDCD11	0	1	0			c.G183T												115	126	123					10																	105160234		2203	4300	6503	SO:0001583	missense	22984	exon3			CGAAAAGAGAGAA	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.183G>T	10.37:g.105160234G>T	ENSP00000358812:p.Lys61Asn		86	0	0		39	0.08	3	NM_014976	46	0	0	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866946	0.51588	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.11821	2.74	5.72	-0.0584	0.13797	.	0.506424	0.24046	N	0.042058	T	0.07324	0.0185	L	0.28458	0.855	0.32896	D	0.512551	P	0.37914	0.611	B	0.31946	0.138	T	0.20140	-1.0284	10	0.59425	D	0.04	-4.1268	5.1788	0.15148	0.3133:0.2985:0.3882:0.0	.	61	Q14690	RRP5_HUMAN	N	61	ENSP00000358812:K61N	ENSP00000358812:K61N	K	+	3	2	PDCD11	105150224	0.995000	0.38212	0.964000	0.40570	0.989000	0.77384	0.698000	0.25571	0.077000	0.16863	0.561000	0.74099	AAG			0.408	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050151.1				T	105160234	G	T	105160234	3	4	92	1	0	0	0	0	1	0	0	0	11634	933	33	3	189	3	PDCD11	10	105160234	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	8171737	105160234	30374513	46	6483											
GPR123	84435	mdanderson.org	37	chr10	134912177	134912177	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgcaagggccggcacacGctcctgaatttctgcttcca	8	8	10	15	3	1	1	0	1	1	0	3	1	3	1	4	2	2	4	4	2	2	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr10:134912177G>T	ENST00000392607.3	+	4	601	c.165G>T	c.(163-165)acG>acT	p.T55T	GPR123_ENST00000607359.1_Silent_p.T775T	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	55					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)		GCCGGCACACGCTCCTGAATT	0.647																																					p.T55T													.	.			0			c.G165T												74	66	69					10																	134912177		2203	4300	6503	SO:0001819	synonymous_variant	84435	exon4			GCACACGCTCCTG	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.165G>T	10.37:g.134912177G>T			44	0	0		33	0.09	3	NM_001083909	3	0	0	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	CCDS41580.1																																																																																					0.647	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000051113.2				T	134912177	G	T	134912177	2	4	92	1	0	0	0	0	0	0	0	1	6651	1074	38	1		1	GPR123	10	134912177	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	29751943	134912177	622570	47	6484											
PHRF1	57661	mdanderson.org	37	chr11	607812	607812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaatattcctggaaacatgGcacattccagccagctctcc	11	10	6	14	0	2	0	1	0	1	0	5	1	4	1	4	2	3	2	4	2	3	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr11:607812G>T	ENST00000264555.5	+	14	2484	c.2356G>T	c.(2356-2358)Gca>Tca	p.A786S	PHRF1_ENST00000416188.2_Missense_Mutation_p.A785S|PHRF1_ENST00000533464.1_Missense_Mutation_p.A782S|PHRF1_ENST00000413872.2_Missense_Mutation_p.A784S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	786					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						TGGAAACATGGCACATTCCAG	0.577																																					p.A785S													.	.			0			c.G2353T												51	57	55					11																	607812		2012	4165	6177	SO:0001583	missense	57661	exon14			AACATGGCACATT	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.2356G>T	11.37:g.607812G>T	ENSP00000264555:p.Ala786Ser		75	0	0		59	0.07	4	NM_020901	78	0	0	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	G	13.86	2.363526	0.41902	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	4.77	4.77	0.60923	.	0.169982	0.28125	N	0.016514	T	0.82047	0.4952	L	0.48642	1.525	0.32052	N	0.596834	D;D;D;D	0.56521	0.958;0.976;0.976;0.958	P;P;P;P	0.51615	0.475;0.675;0.675;0.475	T	0.83237	-0.0060	10	0.33940	T	0.23	-27.5858	18.1833	0.89785	0.0:0.0:1.0:0.0	.	782;784;785;786	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	786;784;785;782	ENSP00000264555:A786S;ENSP00000388589:A784S;ENSP00000410626:A785S;ENSP00000431870:A782S	ENSP00000264555:A786S	A	+	1	0	PHRF1	597812	1.000000	0.71417	0.024000	0.17045	0.060000	0.15804	5.200000	0.65158	2.356000	0.79943	0.555000	0.69702	GCA			0.577	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000382133.1		NM_020901		T	607812	G	T	607812	3	4	92	1	0	0	0	0	1	0	0	0	11878	1203	42	2	2403	2	PHRF1	11	607812	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10		607812	134398704	48	6485											
ATG2A	23130	mdanderson.org	37	chr11	64679873	64679873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggagcaggtgcagggagCccagctgtcccgccacctcc	7	5	13	16	1	1	0	1	0	0	0	3	2	3	2	5	3	4	3	5	3	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr11:64679873C>T	ENST00000377264.3	-	7	960	c.848G>A	c.(847-849)gGc>gAc	p.G283D	ATG2A_ENST00000421419.2_Missense_Mutation_p.G283D	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	283					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						GTGCAGGGAGCCCAGCTGTCC	0.677																																					p.G283D													.	.			0			c.G848A												18	18	18					11																	64679873		2138	4205	6343	SO:0001583	missense	23130	exon7			AGGGAGCCCAGCT		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.848G>A	11.37:g.64679873C>T	ENSP00000366475:p.Gly283Asp		62	0	0		20	0.15	3	NM_015104	27	0	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121048	0.37436	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	T;T	0.09538	2.97;2.97	3.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.38175	1.15	0.50171	D	0.999852	D	0.69078	0.997	D	0.63597	0.916	T	0.02263	-1.1186	10	0.25751	T	0.34	.	13.91	0.63860	0.0:1.0:0.0:0.0	.	283	Q2TAZ0	ATG2A_HUMAN	D	283	ENSP00000410522:G283D;ENSP00000366475:G283D	ENSP00000227459:G283D	G	-	2	0	ATG2A	64436449	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	2.533000	0.45667	2.224000	0.72417	0.561000	0.74099	GGC			0.677	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000143224.1		NM_015104		T	64679873	C	T	64679873	3	4	92	1	0	0	0	0	1	0	0	0	1093	739	26	2	5108	2	ATG2A	11	64679873	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	64072061	64679873	70326643	49	6486											
MAP3K11	4296	mdanderson.org	37	chr11	65367071	65367071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccccgcgctcgcgtcctGggcctcccggcggctgcagg	2	6	14	19	6	0	0	0	0	0	0	4	0	3	0	5	4	1	3	5	4	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr11:65367071G>T	ENST00000530153.1	-	9	1750	c.1229C>A	c.(1228-1230)cCa>cAa	p.P410Q	MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000309100.3_Missense_Mutation_p.P667Q|MAP3K11_ENST00000532507.1_Missense_Mutation_p.P83Q					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CTCGCGTCCTGGGCCTCCCGG	0.761																																					p.P667Q													.	.			0			c.C2000A												5	8	7					11																	65367071		1822	3660	5482	SO:0001583	missense	4296	exon9			CGTCCTGGGCCTC		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.1229C>A	11.37:g.65367071G>T	ENSP00000433886:p.Pro410Gln		28	0	0		20	0.1	2	NM_002419	17	0	0		Missense_Mutation	SNP	ENST00000530153.1	37		.	.	.	.	.	.	.	.	.	.	G	10.56	1.383675	0.25031	.	.	ENSG00000173327	ENST00000309100;ENST00000532507;ENST00000530153	T;T	0.73152	-0.61;-0.72	4.54	-6.26	0.02033	.	2.277220	0.02890	N	0.134056	T	0.44030	0.1274	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.23226	-1.0194	10	0.18276	T	0.48	.	0.5551	0.00669	0.3747:0.1456:0.2587:0.221	.	174;667	B3KQY4;Q16584	.;M3K11_HUMAN	Q	667;83;410	ENSP00000309597:P667Q;ENSP00000433886:P410Q	ENSP00000309597:P667Q	P	-	2	0	MAP3K11	65123647	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.171000	0.09883	-1.437000	0.01967	-2.048000	0.00412	CCA			0.761	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000390233.2				T	65367071	G	T	65367071	3	4	92	1	0	0	0	0	1	0	0	0	9261	1348	47	3	551	3	MAP3K11	11	65367071	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	687198	65367071	69639445	50	6487											
RBM14	10432	mdanderson.org	37	chr11	66392959	66392959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcatccccaggctgctGcctcctaccgcggccagcca	7	5	10	19	2	0	0	0	0	0	0	2	0	2	0	7	2	6	4	7	2	1	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr11:66392959G>T	ENST00000310137.4	+	2	1751	c.1612G>T	c.(1612-1614)Gcc>Tcc	p.A538S	RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	538	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCAGGCTGCTGCCTCCTACCG	0.652																																					p.A538S													.	.			0			c.G1612T												42	36	38					11																	66392959		2200	4295	6495	SO:0001583	missense	10432	exon2			GCTGCTGCCTCCT	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1612G>T	11.37:g.66392959G>T	ENSP00000311747:p.Ala538Ser		69	0.0144927536	1		47	0.06	3	NM_006328	173	0	0	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519038	0.27211	.	.	ENSG00000239306	ENST00000310137	D	0.83914	-1.78	5.75	4.78	0.61160	.	0.106952	0.64402	D	0.000005	T	0.67335	0.2882	N	0.14661	0.345	0.80722	D	1	B	0.32781	0.384	B	0.23716	0.048	T	0.70513	-0.4851	10	0.62326	D	0.03	-0.1533	11.2464	0.49000	0.0:0.0:0.8178:0.1822	.	538	Q96PK6	RBM14_HUMAN	S	538	ENSP00000311747:A538S	ENSP00000311747:A538S	A	+	1	0	RBM14	66149535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.360000	0.59455	2.720000	0.93068	0.655000	0.94253	GCC			0.652	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000277128.1		NM_006328		T	66392959	G	T	66392959	3	4	92	1	0	0	0	0	1	0	0	0	13138	1319	46	2	1618	2	RBM14	11	66392959	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	1025888	66392959	68613557	51	6488											
RBM4B	83759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	66436560	66436560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaatacatggattccccGtagcccatggtgtaaggtgt	9	13	11	8	1	0	0	0	0	0	0	1	1	1	1	3	3	2	3	3	3	4	6			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr11:66436560G>A	ENST00000525754.1	-	2	1283	c.615C>T	c.(613-615)taC>taT	p.Y205Y	RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000524637.1_3'UTR|RP11-658F2.8_ENST00000550837.1_RNA|RBM4B_ENST00000310046.4_Silent_p.Y205Y|RBM4B_ENST00000529195.2_5'Flank|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	205	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						TGGATTCCCCGTAGCCCATGG	0.512																																					p.Y205Y													.	.			0			c.C615T												124	114	117					11																	66436560		2200	4295	6495	SO:0001819	synonymous_variant	83759	exon3			TTCCCCGTAGCCC	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.615C>T	11.37:g.66436560G>A			164	0	0		78	0.44	34	NM_031492	43	0.6	26	B3KT83	Silent	SNP	ENST00000525754.1	37	CCDS8149.1																																																																																					0.512	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393851.1		NM_031492		A	66436560	G	A	66436560	2	1	92	1	0	0	0	0	0	0	0	1	13165	1140	40	1		1	RBM4B	11	66436560	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	43601	66436560	68569956	52	6489											
DLG2	1740	mdanderson.org	37	chr11	84996380	84996380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaacttttttgagaatttaGcaatgtcacctcataaaatt	15	15	4	7	0	2	1	2	1	0	1	2	2	2	1	1	0	2	1	1	0	6	7			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr11:84996380G>T	ENST00000376104.2	-	4	381	c.70C>A	c.(70-72)Cta>Ata	p.L24I	DLG2_ENST00000543673.1_Missense_Mutation_p.L24I	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGAGAATTTAGCAATGTCACC	0.358																																					p.L24I													.	.			0			c.C70A												155	140	145					11																	84996380		1568	3581	5149	SO:0001583	missense	1740	exon4			AATTTAGCAATGT	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.70C>A	11.37:g.84996380G>T	ENSP00000365272:p.Leu24Ile		92	0	0		50	0.08	4	NM_001142699	2	0	0	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000376104.2	37	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780131	0.49891	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.22539	1.95;1.95	5.88	1.37	0.22104	.	0.000000	0.31268	N	0.007948	T	0.36580	0.0972	L	0.60067	1.865	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.04029	-1.0983	9	.	.	.	.	11.3074	0.49342	0.2937:0.0:0.7063:0.0	.	24	Q15700-2	.	I	24	ENSP00000365272:L24I;ENSP00000441994:L24I	.	L	-	1	2	DLG2	84674028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.899000	0.39818	0.379000	0.24794	0.650000	0.86243	CTA			0.358	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000259245.3		NM_001364		T	84996380	G	T	84996380	3	4	92	1	0	0	0	0	1	0	0	0	4560	962	34	2	3162	2	DLG2	11	84996380	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	18559820	84996380	50010136	53	6490											
DDX25	29118	mdanderson.org	37	chr11	125787112	125787112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgcaacatttatggcaGcatcaccattggtcaggcca	10	11	9	11	0	3	0	2	0	1	0	3	0	3	0	2	3	3	3	2	3	2	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr11:125787112G>T	ENST00000263576.6	+	9	1159	c.1004G>T	c.(1003-1005)aGc>aTc	p.S335I	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	335	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		ATTTATGGCAGCATCACCATT	0.502																																					p.S335I													.	.			0			c.G1004T												40	39	39					11																	125787112		2129	4244	6373	SO:0001583	missense	29118	exon9			ATGGCAGCATCAC	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.1004G>T	11.37:g.125787112G>T	ENSP00000263576:p.Ser335Ile		61	0	0		41	0.07	3	NM_013264	7	0	0	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112745	0.37242	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.04809	3.55	5.89	5.89	0.94794	Helicase, C-terminal (1);	0.219328	0.40302	N	0.001136	T	0.04003	0.0112	N	0.11927	0.2	0.33109	D	0.540252	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.21280	-1.0250	10	0.49607	T	0.09	-5.2769	14.6881	0.69065	0.0:0.0:0.8548:0.1452	.	335;335	B4DHI6;Q9UHL0	.;DDX25_HUMAN	I	221;335;201	ENSP00000263576:S335I	ENSP00000263576:S335I	S	+	2	0	DDX25	125292322	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.574000	0.46016	2.793000	0.96121	0.655000	0.94253	AGC			0.502	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386736.3		NM_013264		T	125787112	G	T	125787112	3	4	92	1	0	0	0	0	1	0	0	0	4354	971	34	2	1038	2	DDX25	11	125787112	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	40790732	125787112	9219404	54	6491											
UTP20	27340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	101763603	101763603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacacctcttccttctgctGaaggactatgcaaagctcgg	11	10	8	12	1	2	1	0	1	2	0	4	2	3	2	2	2	4	3	2	2	4	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr12:101763603G>A	ENST00000261637.4	+	49	6663	c.6489G>A	c.(6487-6489)ctG>ctA	p.L2163L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2163					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)	p.L2163L(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						TCCTTCTGCTGAAGGACTATG	0.507																																					p.L2163L													UTP20,NS,carcinoma,0,1	UTP20	0	1	1	Substitution - coding silent(1)	lung(1)	c.G6489A												129	137	134					12																	101763603		2203	4300	6503	SO:0001819	synonymous_variant	27340	exon49			TCTGCTGAAGGAC	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.6489G>A	12.37:g.101763603G>A			91	0	0		95	0.06	6	NM_014503	51	0.1	5	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																					0.507	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408242.1		NM_014503		A	101763603	G	A	101763603	2	1	92	1	0	0	0	0	0	0	0	1	17123	1277	45	3		3	UTP20	12	101763603	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10		101763603	32088292	55	6492											
PSMB11	122706	mdanderson.org	37	chr14	23511880	23511880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatctctgtgtggccactgCcctctgcggctgggaccgct	3	10	14	14	2	2	0	0	0	2	0	3	2	2	2	3	4	2	2	3	4	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr14:23511880C>T	ENST00000408907.2	+	1	505	c.446C>T	c.(445-447)gCc>gTc	p.A149V		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	149					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GTGGCCACTGCCCTCTGCGGC	0.622																																					p.A149V													.	.			0			c.C446T												60	65	64					14																	23511880		2118	4229	6347	SO:0001583	missense	122706	exon1			CCACTGCCCTCTG		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.446C>T	14.37:g.23511880C>T	ENSP00000386212:p.Ala149Val		52	0	0		37	0.08	3	NM_001099780	0		0		Missense_Mutation	SNP	ENST00000408907.2	37	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910281	0.52439	.	.	ENSG00000222028	ENST00000408907	T	0.27890	1.64	5.23	4.33	0.51752	.	0.122950	0.56097	D	0.000040	T	0.09686	0.0238	N	0.00500	-1.43	0.28454	N	0.916193	B	0.21071	0.051	B	0.23275	0.045	T	0.08722	-1.0708	10	0.66056	D	0.02	-1.1522	9.1796	0.37134	0.0:0.8414:0.0:0.1586	.	149	A5LHX3	PSB11_HUMAN	V	149	ENSP00000386212:A149V	ENSP00000386212:A149V	A	+	2	0	PSMB11	22581720	0.817000	0.29147	1.000000	0.80357	0.839000	0.47603	1.864000	0.39469	2.453000	0.82957	0.561000	0.74099	GCC			0.622	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408294.1		NM_001099780		T	23511880	C	T	23511880	3	4	92	1	0	0	0	0	1	0	0	0	12696	739	26	2	448	2	PSMB11	14	23511880	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10		23511880	83837660	56	6493											
MAP2K5	5607	mdanderson.org	37	chr15	67835784	67835784	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacagtgcactccgggccGcagttactcttcagggatgt	7	10	13	11	2	2	0	1	0	1	0	3	2	3	2	2	3	2	3	2	3	1	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr15:67835784G>T	ENST00000178640.5	+	1	738	c.111G>T	c.(109-111)ccG>ccT	p.P37P	MAP2K5_ENST00000395476.2_Silent_p.P37P|RP11-502I4.3_ENST00000604760.1_lincRNA|MAP2K5_ENST00000560591.1_3'UTR	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	37	OPR.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						ACTCCGGGCCGCAGTTACTCT	0.572																																					p.P37P													.	.			0			c.G111T												101	92	95					15																	67835784		2201	4298	6499	SO:0001819	synonymous_variant	5607	exon1			CGGGCCGCAGTTA	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"Mitogen-activated protein kinase cascade / Kinase kinases"	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.111G>T	15.37:g.67835784G>T			91	0	0		55	0.05	3	NM_002757	44	0	0	B4DE43|Q92961|Q92962	Silent	SNP	ENST00000178640.5	37	CCDS10224.1																																																																																					0.572	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257041.1		NM_145162		T	67835784	G	T	67835784	2	4	92	1	0	0	0	0	0	0	0	1	9256	1074	38	1		1	MAP2K5	15	67835784	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10		67835784	34695608	57	6494											
NEIL1	79661	ucsc.edu	37	chr15	75646087	75646087	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgtcccacagggggcaaAggctacgggtcagagagcgg	9	5	16	11	2	2	1	1	0	1	1	3	2	3	1	1	5	2	2	1	5	2	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr15:75646087A>G	ENST00000564784.1	+	7	1355	c.726A>G	c.(724-726)aaA>aaG	p.K242K	MIR631_ENST00000384904.1_RNA|NEIL1_ENST00000355059.4_Silent_p.K242K|NEIL1_ENST00000569035.1_Silent_p.K242K|RP11-817O13.6_ENST00000563660.1_lincRNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	242			K -> R (in RNA edited version).		base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CAGGGGGCAAAGGCTACGGGT	0.632								Base excision repair (BER), DNA glycosylases																													p.K328K													.	NEIL1	36		0			c.A984G												79	79	79					15																	75646087		2197	4294	6491	SO:0001819	synonymous_variant	79661	exon6			GGGCAAAGGCTAC	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.726A>G	15.37:g.75646087A>G			85	0	0		85	0.01	1	NM_001256552	20	0.45	9	D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	ENST00000564784.1	37	CCDS10278.1																																																																																					0.632	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419885.1		NM_024608		G	75646087	A	G	75646087	2	3	92	1	0	0	0	0	0	0	0	1	10335	69	3	4		4	NEIL1	15	75646087	Silent	SNP	A	TCGA-SN-A84W-01A-11D-A435-10	7810303	75646087	26885305	58	6495											
ADAMTS17	170691	mdanderson.org	37	chr15	100821452	100821452	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accatgttcatgacggtcagGatgaacctctgggcggcctc	8	9	12	12	2	3	2	2	2	1	0	4	3	3	3	3	4	1	1	3	4	1	1	rs143055688		TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr15:100821452G>T	ENST00000268070.4	-	4	876	c.771C>A	c.(769-771)atC>atA	p.I257I		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	257	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGACGGTCAGGATGAACCTCT	0.627																																					p.I257I													.	.			0			c.C771A												69	75	73					15																	100821452		2203	4300	6503	SO:0001819	synonymous_variant	170691	exon4			GGTCAGGATGAAC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.771C>A	15.37:g.100821452G>T			21	0	0		24	0.13	3	NM_139057	9	0	0	Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	CCDS10383.1																																																																																					0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313595.1		NM_139057		T	100821452	G	T	100821452	2	4	92	1	0	0	0	0	0	0	0	1	262	1164	41	3		3	ADAMTS17	15	100821452	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	25175365	100821452	1709940	59	6496											
MRPS34	65993	mdanderson.org	37	chr16	1822889	1822889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgcgcgtgaccaggcGgcccaggccgaagagcggga	8	3	18	12	5	0	2	0	1	0	1	0	5	0	4	3	5	2	0	3	5	1	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr16:1822889G>T	ENST00000397375.2	-	1	267	c.232C>A	c.(232-234)Cgc>Agc	p.R78S	EME2_ENST00000307394.7_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.R78S|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000568449.1_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	78						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						GTGACCAGGCGGCCCAGGCCG	0.746																																					p.R78S													.	.			0			c.C232A												2	3	2					16																	1822889		1366	2919	4285	SO:0001583	missense	65993	exon1			CCAGGCGGCCCAG	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"Mitochondrial ribosomal proteins / small subunits"	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.232C>A	16.37:g.1822889G>T	ENSP00000380531:p.Arg78Ser		11	0	0		11	0.18	2	NM_023936	104	0	0	Q9BVI7	Missense_Mutation	SNP	ENST00000397375.2	37	CCDS10444.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138098	0.94560	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.31769	1.48;1.48	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51076	-0.8751	10	0.62326	D	0.03	-16.3201	9.7711	0.40589	0.0:0.0:0.7937:0.2063	.	78;78	C9JJ19;P82930	.;RT34_HUMAN	S	78	ENSP00000380531:R78S;ENSP00000177742:R78S	ENSP00000177742:R78S	R	-	1	0	MRPS34	1762890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.409000	0.66374	1.891000	0.54761	0.591000	0.81541	CGC			0.746	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250506.1		NM_023936		T	1822889	G	T	1822889	3	4	92	1	0	0	0	0	1	0	0	0	9859	1116	39	1	436	1	MRPS34	16	1822889	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10		1822889	88531864	60	6497											
PKD1	5310	mdanderson.org	37	chr16	2165409	2165409	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggggggccccgcgggaacGgagaagaggaactctctcca	9	3	17	12	4	1	2	0	0	1	2	3	5	2	4	3	6	2	0	3	6	3	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr16:2165409G>T	ENST00000262304.4	-	10	2275	c.2067C>A	c.(2065-2067)tcC>tcA	p.S689S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.S689S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	689					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						CCGCGGGAACGGAGAAGAGGA	0.687																																					p.S689S													.	.			0			c.C2067A												9	11	10					16																	2165409		2104	4170	6274	SO:0001819	synonymous_variant	5310	exon10			GGGAACGGAGAAG	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.2067C>A	16.37:g.2165409G>T			53	0	0		36	0.08	3	NM_001009944	90	0	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																					0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341688.1				T	2165409	G	T	2165409	2	4	92	1	0	0	0	0	0	0	0	1	11980	1103	39	1		1	PKD1	16	2165409	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	342520	2165409	88189344	61	6498											
SRRM2	23524	broad.mit.edu	37	chr16	2817298	2817298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccaacagcagtgaacctgGctgactctcgaacgccagct	10	8	9	14	2	1	2	0	2	1	0	3	3	2	2	3	1	5	3	3	1	3	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr16:2817298G>T	ENST00000301740.8	+	11	7318	c.6769G>T	c.(6769-6771)Gct>Tct	p.A2257S	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2257	Ala-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						AGTGAACCTGGCTGACTCTCG	0.632																																					p.A2257S													.	SRRM2	263		0			c.G6769T												67	70	69					16																	2817298		2198	4300	6498	SO:0001583	missense	23524	exon11			AACCTGGCTGACT	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.6769G>T	16.37:g.2817298G>T	ENSP00000301740:p.Ala2257Ser		64	0.03125	2		70	0.09	6	NM_016333	858	0.06	50	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	9.588	1.125326	0.20959	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.80033	-1.33	5.82	4.84	0.62591	.	0.089887	0.48767	D	0.000165	T	0.71151	0.3306	L	0.34521	1.04	0.30120	N	0.805738	P	0.40970	0.734	B	0.37731	0.257	T	0.71069	-0.4699	10	0.44086	T	0.13	-6.9946	12.7961	0.57560	0.0:0.1642:0.8358:0.0	.	2257	Q9UQ35	SRRM2_HUMAN	S	2257;1509	ENSP00000301740:A2257S	ENSP00000301740:A2257S	A	+	1	0	SRRM2	2757299	1.000000	0.71417	0.976000	0.42696	0.402000	0.30811	1.924000	0.40065	1.423000	0.47198	0.655000	0.94253	GCT			0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436411.1				T	2817298	G	T	2817298	3	4	92	1	0	0	0	0	1	0	0	0	15192	1203	42	2	6807	2	SRRM2	16	2817298	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	651889	2817298	87537455	62	6499											
MYH10	4628	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	8404192	8404193	+	Frame_Shift_Del	DEL	GT	GT	-																															agctcctccagggctgttgcGtgtctttgtctcatgtcctg																								rs147095676		TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	GT	GT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr17:8404192_8404193delGT	ENST00000269243.4	-	27	3740_3741	c.3602_3603delAC	c.(3601-3603)cacfs	p.H1201fs	MYH10_ENST00000379980.4_Frame_Shift_Del_p.H1217fs|MYH10_ENST00000396239.1_Frame_Shift_Del_p.H1222fs|MYH10_ENST00000360416.3_Frame_Shift_Del_p.H1232fs	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1201					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						GGGCTGTTGCGTGTCTTTGTCT	0.53																																					p.1232_1233del													.	MYH10	148		0			c.3696_3697del																																									SO:0001589	frameshift_variant	4628	exon29			TGTTGCGTGTCTT	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.3602_3603delAC	17.37:g.8404194_8404195delGT	ENSP00000269243:p.His1201fs		68	0	0		80	0.34	27	NM_001256012	336	0	0	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Frame_Shift_Del	DEL	ENST00000269243.4	37	CCDS11144.1																																																																																					0.53	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000227001.2				-	8404193	GT	-	8404192	7	5	92	1	0	1	0	1	0	0	0	0	10046	1136	40	0	2387	0	MYH10	17	8404192	Frame_Shift_Del	DEL	GT	TCGA-SN-A84W-01A-11D-A435-10		8404192	72791018	63	6500											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		262	0.0687022901	18		176	0.06	10	NM_145301	84	0.52	44	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	92	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	7052895	15457087	65738123	64	6501											
MYO18A	399687	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	27441062	27441063	+	Frame_Shift_Del	DEL	CA	CA	-																															gaggcctggtccacagcagcCacagagtcatccgtcggggg																										TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	CA	CA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr17:27441062_27441063delCA	ENST00000527372.1	-	15	2744_2745	c.2564_2565delTG	c.(2563-2565)gtgfs	p.V855fs	MYO18A_ENST00000533112.1_Frame_Shift_Del_p.V855fs|MYO18A_ENST00000354329.4_Frame_Shift_Del_p.V855fs|MYO18A_ENST00000531253.1_Frame_Shift_Del_p.V855fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	855	Myosin motor.				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)			CCACAGCAGCCACAGAGTCATC	0.614																																					p.855_856del	Esophageal Squamous(182;472 2015 7001 15270 22562)												.	MYO18A	217		0			c.2565_2566del																																									SO:0001589	frameshift_variant	399687	exon15			AGCAGCCACAGAG	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.2564_2565delTG	17.37:g.27441064_27441065delCA	ENSP00000437073:p.Val855fs		75	0	0		53	0.34	18	NM_078471	30	0	0	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Frame_Shift_Del	DEL	ENST00000527372.1	37	CCDS45642.1																																																																																					0.614	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389396.1		NM_078471		-	27441063	CA	-	27441062	7	5	92	1	0	1	0	1	0	0	0	0	10081	581	21	0	3711	0	MYO18A	17	27441062	Frame_Shift_Del	DEL	CA	TCGA-SN-A84W-01A-11D-A435-10	11983975	27441062	53754148	65	6502											
ABHD15	116236	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	27893554	27893554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccggcggccccgaacaCaaggtcctaccacccagtcc	9	5	9	18	3	0	1	0	1	0	0	3	2	3	1	7	3	2	0	7	3	3	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr17:27893554C>T	ENST00000307201.4	-	1	601	c.431G>A	c.(430-432)tGt>tAt	p.C144Y	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_3'UTR|TP53I13_ENST00000301057.7_5'Flank	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	144						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GCCCCGAACACAAGGTCCTAC	0.687																																					p.C144Y													.	.			0			c.G431A												28	25	26					17																	27893554		2201	4294	6495	SO:0001583	missense	116236	exon1			CGAACACAAGGTC	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.431G>A	17.37:g.27893554C>T	ENSP00000302657:p.Cys144Tyr		52	0	0		72	0.29	21	NM_198147	18	0.17	3	Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334494	0.24253	.	.	ENSG00000168792	ENST00000307201	T	0.17854	2.25	4.34	4.34	0.51931	.	0.428639	0.23508	N	0.047427	T	0.12220	0.0297	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04664	-1.0935	10	0.02654	T	1	-16.5978	15.5786	0.76414	0.0:1.0:0.0:0.0	.	144	Q6UXT9	ABH15_HUMAN	Y	144	ENSP00000302657:C144Y	ENSP00000302657:C144Y	C	-	2	0	ABHD15	24917680	0.607000	0.26958	0.943000	0.38184	0.568000	0.35870	1.678000	0.37586	2.244000	0.73946	0.563000	0.77884	TGT			0.687	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447796.2		NM_198147		T	27893554	C	T	27893554	3	4	92	1	0	0	0	0	1	0	0	0	81	478	17	3	983	3	ABHD15	17	27893554	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	452492	27893554	53301656	66	6503											
PTRF	284119	mdanderson.org	37	chr17	40556822	40556822	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctccccgcgctccgcGccgccctcgtcgtcgtcggc	0	6	12	23	10	0	0	0	0	0	0	6	0	2	0	7	2	0	1	7	2	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr17:40556822G>T	ENST00000357037.5	-	2	1475	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGCGCTCCGCGCCGCCCTCGT	0.711																																					p.G352G													.	.			0			c.C1056A												21	20	20					17																	40556822		2195	4282	6477	SO:0001819	synonymous_variant	284119	exon2			CTCCGCGCCGCCC	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.1056C>A	17.37:g.40556822G>T			67	0	0		61	0.05	3	NM_012232	255	0	1		Silent	SNP	ENST00000357037.5	37	CCDS11425.1																																																																																					0.711	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449938.1		NM_012232		T	40556822	G	T	40556822	2	4	92	1	0	0	0	0	0	0	0	1	12838	1074	38	1		1	PTRF	17	40556822	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	12663268	40556822	40638388	67	6504											
C17orf64	124773	mdanderson.org	37	chr17	58504167	58504167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccaagagcagccagccgGccaagttcctggtgaggcgc	10	4	13	14	2	0	2	0	1	0	1	1	2	1	2	5	3	3	2	5	3	2	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr17:58504167G>A	ENST00000269127.4	+	4	502	c.418G>A	c.(418-420)Gcc>Acc	p.A140T		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	140										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CAGCCAGCCGGCCAAGTTCCT	0.587																																					p.A140T													.	.			0			c.G418A												39	30	33					17																	58504167		2203	4300	6503	SO:0001583	missense	124773	exon4			CAGCCGGCCAAGT	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.418G>A	17.37:g.58504167G>A	ENSP00000269127:p.Ala140Thr		30	0	0		48	0.06	3	NM_181707	0		0	Q8IY87	Missense_Mutation	SNP	ENST00000269127.4	37	CCDS32698.2	.	.	.	.	.	.	.	.	.	.	G	6.882	0.532086	0.13127	.	.	ENSG00000141371	ENST00000428000;ENST00000269127	.	.	.	5.01	0.82	0.18793	.	0.380726	0.22362	N	0.061080	T	0.29491	0.0735	L	0.45581	1.43	0.20703	N	0.999866	B	0.21071	0.051	B	0.14023	0.01	T	0.14980	-1.0453	9	0.36615	T	0.2	-2.6218	5.2615	0.15576	0.3207:0.1378:0.5415:0.0	.	140	Q86WR6	CQ064_HUMAN	T	134;140	.	ENSP00000269127:A140T	A	+	1	0	C17orf64	55858949	0.240000	0.23847	0.097000	0.21041	0.082000	0.17680	1.080000	0.30779	-0.052000	0.13311	-0.258000	0.10820	GCC			0.587	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000347743.1		NM_181707		A	58504167	G	A	58504167	3	1	92	1	0	0	0	0	1	0	0	0	1874	1203	42	2	432	2	C17orf64	17	58504167	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	17947345	58504167	22691043	68	6505											
C17orf70	80233	broad.mit.edu;mdanderson.org	37	chr17	79517782	79517782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagcagagctggccatcAgggagaccacagaggaccac	14	2	12	13	0	1	3	1	0	0	3	1	5	1	4	3	3	2	2	3	3	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr17:79517782A>G	ENST00000327787.8	-	3	784	c.738T>C	c.(736-738)ccT>ccC	p.P246P	C17orf70_ENST00000537152.1_Silent_p.P95P|C17orf70_ENST00000425898.2_5'Flank			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	246					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCTGGCCATCAGGGAGACCAC	0.632																																					p.P246P													.	C17orf70	79		0			c.T738C												35	35	35					17																	79517782		2203	4300	6503	SO:0001819	synonymous_variant	80233	exon3			GCCATCAGGGAGA	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.738T>C	17.37:g.79517782A>G			71	0	0		51	0.06	3	NM_025161	122	0	0	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	CCDS32765.2																																																																																					0.632	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396170.1		NM_025161		G	79517782	A	G	79517782	2	3	92	1	0	0	0	0	0	0	0	1	1879	175	7	4		4	C17orf70	17	79517782	Silent	SNP	A	TCGA-SN-A84W-01A-11D-A435-10	21013615	79517782	1677428	69	6506											
EMILIN2	84034	mdanderson.org	37	chr18	2891184	2891184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctcactggcctccagcaGcagtgtgatgactatgggag	10	8	13	10	0	1	2	1	2	0	0	2	3	2	3	2	2	3	3	2	2	2	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr18:2891184G>T	ENST00000254528.3	+	4	1218	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	353					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCCTCCAGCAGCAGTGTGATG	0.522																																					p.Q353H													.	.			0			c.G1059T												79	82	81					18																	2891184		2203	4300	6503	SO:0001583	missense	84034	exon4			CCAGCAGCAGTGT	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1059G>T	18.37:g.2891184G>T	ENSP00000254528:p.Gln353His		62	0.0161290323	1		43	0.07	3	NM_032048	22	0	0	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652238	0.29336	.	.	ENSG00000132205	ENST00000254528	T	0.42131	0.98	5.41	3.02	0.34903	.	0.164354	0.42548	D	0.000692	T	0.42245	0.1194	M	0.62723	1.935	0.38721	D	0.953444	P	0.37061	0.58	B	0.40659	0.336	T	0.48843	-0.8999	10	0.56958	D	0.05	-27.9265	9.7457	0.40446	0.3138:0.0:0.6862:0.0	.	353	Q9BXX0	EMIL2_HUMAN	H	353	ENSP00000254528:Q353H	ENSP00000254528:Q353H	Q	+	3	2	EMILIN2	2881184	0.999000	0.42202	1.000000	0.80357	0.718000	0.41266	0.760000	0.26475	1.107000	0.41642	0.557000	0.71058	CAG			0.522	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250337.2		NM_032048		T	2891184	G	T	2891184	3	4	92	1	0	0	0	0	1	0	0	0	5101	962	34	2	1073	2	EMILIN2	18	2891184	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10		2891184	75186064	70	6507											
ZFR2	23217	broad.mit.edu	37	chr19	3827569	3827569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcctgcaccccgcgcGggctcccgttgggctgcacg	2	6	15	18	6	0	0	0	0	0	0	1	0	1	0	4	2	3	6	4	2	0	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr19:3827569G>T	ENST00000262961.4	-	6	945	c.935C>A	c.(934-936)cCg>cAg	p.P312Q		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	312							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)		CACCCCGCGCGGGCTCCCGTT	0.682																																					p.P312Q													.	ZFR2	63		0			c.C935A												16	18	17					19																	3827569		1929	4101	6030	SO:0001583	missense	23217	exon6			CCGCGCGGGCTCC	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.935C>A	19.37:g.3827569G>T	ENSP00000262961:p.Pro312Gln		176	0	0		171	0.02	4	NM_015174	1	0	0		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	8.161	0.789476	0.16258	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.15952	3.18;2.38	2.96	0.774	0.18521	.	.	.	.	.	T	0.27205	0.0667	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.42699	-0.9436	9	0.14656	T	0.56	-11.5328	2.3009	0.04162	0.2872:0.0:0.4665:0.2464	.	312	Q9UPR6	ZFR2_HUMAN	Q	312	ENSP00000262961:P312Q;ENSP00000388974:P312Q	ENSP00000262961:P312Q	P	-	2	0	ZFR2	3778569	0.595000	0.26857	0.072000	0.20136	0.260000	0.26232	1.646000	0.37249	0.574000	0.29417	0.185000	0.17295	CCG			0.682	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453648.2		NM_015174		T	3827569	G	T	3827569	3	4	92	1	0	0	0	0	1	0	0	0	17683	1116	39	1	1940	1	ZFR2	19	3827569	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10		3827569	55301414	71	6508											
COL5A3	50509	broad.mit.edu	37	chr19	10097403	10097403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaccttctcgcctttcTccccctggaggccccggttg	2	12	8	19	2	3	0	1	0	2	0	6	1	4	1	7	3	0	1	7	3	0	3			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr19:10097403T>C	ENST00000264828.3	-	28	2262	c.2177A>G	c.(2176-2178)gAg>gGg	p.E726G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	726	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)			CTCGCCTTTCTCCCCCTGGAG	0.552																																					p.E726G													.	COL5A3	243		0			c.A2177G												161	151	154					19																	10097403		2203	4300	6503	SO:0001583	missense	50509	exon28			CCTTTCTCCCCCT	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.2177A>G	19.37:g.10097403T>C	ENSP00000264828:p.Glu726Gly		173	0.0404624277	7		152	0.09	13	NM_015719	43	0	0	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996873	0.35226	.	.	ENSG00000080573	ENST00000264828	D	0.93712	-3.27	4.05	3.01	0.34805	.	0.328523	0.30311	N	0.009915	D	0.85957	0.5818	L	0.37466	1.105	0.28512	N	0.913475	B	0.06786	0.001	B	0.04013	0.001	T	0.72020	-0.4416	10	0.20519	T	0.43	.	4.902	0.13779	0.0:0.2326:0.0:0.7674	.	726	P25940	CO5A3_HUMAN	G	726	ENSP00000264828:E726G	ENSP00000264828:E726G	E	-	2	0	COL5A3	9958403	0.791000	0.28800	1.000000	0.80357	0.995000	0.86356	1.151000	0.31651	1.590000	0.49995	0.379000	0.24179	GAG			0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315788.1		NM_015719		C	10097403	T	C	10097403	3	2	92	1	0	0	0	0	1	0	0	0	3700	1551	54	4	3220	4	COL5A3	19	10097403	Missense_Mutation	SNP	T	TCGA-SN-A84W-01A-11D-A435-10	6269834	10097403	49031580	72	6509											
ZNF653	115950	mdanderson.org	37	chr19	11616497	11616497	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactccgtgagtcgcggccgGccccgcgcctttcggcccgc	2	6	14	19	8	0	1	0	1	0	0	3	2	1	1	6	3	0	0	6	3	0	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr19:11616497G>T	ENST00000293771.5	-	1	241	c.105C>A	c.(103-105)ggC>ggA	p.G35G	ZNF653_ENST00000593191.1_5'Flank|CTC-398G3.6_ENST00000585656.1_Missense_Mutation_p.A6D|ECSIT_ENST00000591352.1_5'Flank	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	35					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)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GTCGCGGCCGGCCCCGCGCCT	0.786																																					p.G35G	Pancreas(83;980 1446 4542 6441 43352)												.	.			0			c.C105A												1	1	1					19																	11616497		781	1783	2564	SO:0001819	synonymous_variant	115950	exon1			CGGCCGGCCCCGC	AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.105C>A	19.37:g.11616497G>T			11	0	0		10	0.3	3	NM_138783	6	0	0	Q96AS7	Silent	SNP	ENST00000293771.5	37	CCDS12261.1																																																																																					0.786	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458836.2		NM_138783		T	11616497	G	T	11616497	2	4	92	1	0	0	0	0	0	0	0	1	18089	1190	42	2		2	ZNF653	19	11616497	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	1519094	11616497	47512486	73	6510											
DDX49	54555	mdanderson.org	37	chr19	19035692	19035692	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccacctctgcctccaggGgcctggacatccctacggta	7	7	10	17	1	1	0	0	0	1	0	3	1	3	1	6	4	3	1	6	4	2	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr19:19035692G>T	ENST00000247003.4	+	9	998	c.931G>T	c.(931-933)Ggc>Tgc	p.G311C	AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000599156.1_3'UTR|DDX49_ENST00000438170.2_Silent_p.G213G	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	311	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			TGCCTCCAGGGGCCTGGACAT	0.637																																					p.G311C													.	.			0			c.G931T												61	55	57					19																	19035692		2203	4300	6503	SO:0001630	splice_region_variant	54555	exon9			TCCAGGGGCCTGG		CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"DEAD-boxes"	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.930-1G>T	19.37:g.19035692G>T			41	0	0		27	0.11	3	NM_019070	157	0	0	E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804262	0.70682	.	.	ENSG00000105671	ENST00000247003	T	0.63417	-0.04	4.94	4.94	0.65067	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	H	0.98721	4.31	0.80722	D	1	P	0.40794	0.729	P	0.62813	0.907	D	0.92008	0.5616	10	0.72032	D	0.01	-32.5481	17.1638	0.86810	0.0:0.0:1.0:0.0	.	311	Q9Y6V7	DDX49_HUMAN	C	311	ENSP00000247003:G311C	ENSP00000247003:G311C	G	+	1	0	DDX49	18896692	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.441000	0.97557	2.294000	0.77228	0.511000	0.50034	GGC			0.637	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464593.1		NM_019070	Missense_Mutation	T	19035692	G	T	19035692	5	4	92	1	0	0	0	0	0	0	1	0	4368	1246	43	3	965	3	DDX49	19	19035692	Splice_Site	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	7419195	19035692	40093291	74	6511											
SPTBN4	57731	mdanderson.org	37	chr19	41009747	41009747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgccccaggacaactttgGgtatgagctgcccgcagtgg	8	8	13	12	1	0	1	0	1	0	0	0	2	0	2	3	3	4	3	3	3	2	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr19:41009747G>T	ENST00000352632.3	+	12	1459	c.1373G>T	c.(1372-1374)gGg>gTg	p.G458V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.G458V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G458V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G458V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G458V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	458					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)			GACAACTTTGGGTATGAGCTG	0.617																																					p.G458V													.	.			0			c.G1373T												32	28	29					19																	41009747		2203	4300	6503	SO:0001583	missense	57731	exon12			ACTTTGGGTATGA	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.1373G>T	19.37:g.41009747G>T	ENSP00000263373:p.Gly458Val		56	0	0		42	0.07	3	NM_020971	3	0	0	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	g	16.41	3.115376	0.56505	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54675	0.56;0.56;0.56	3.88	2.84	0.33178	.	0.000000	0.64402	U	0.000007	T	0.70937	0.3281	M	0.82433	2.59	0.80722	D	1	D;D	0.76494	0.999;0.969	D;P	0.77557	0.99;0.742	T	0.73691	-0.3903	10	0.87932	D	0	.	10.2846	0.43560	0.1008:0.0:0.8992:0.0	.	458;458	Q9H254;Q71S06	SPTN4_HUMAN;.	V	458	ENSP00000263373:G458V;ENSP00000340345:G458V;ENSP00000340741:G458V	ENSP00000340345:G458V	G	+	2	0	SPTBN4	45701587	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.582000	0.98214	0.846000	0.35142	0.486000	0.48141	GGG			0.617	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462559.2				T	41009747	G	T	41009747	3	4	92	1	0	0	0	0	1	0	0	0	15144	1232	43	3	1415	3	SPTBN4	19	41009747	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	21974055	41009747	18119236	75	6512											
KLC3	147700	mdanderson.org	37	chr19	45849859	45849859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagagaagcagcggctgCgctcgcaggcccggcggctg	7	3	18	13	5	0	1	0	0	0	1	1	2	0	1	1	5	3	6	1	5	1	0	rs372402110	byFrequency	TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr19:45849859C>T	ENST00000391946.2	+	3	418	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	KLC3_ENST00000585434.1_Missense_Mutation_p.R106C|KLC3_ENST00000470402.1_Missense_Mutation_p.R120C	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	106					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCAGCGGCTGCGCTCGCAGGC	0.711													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		12083	0		0	False		,,,				2504	0				p.R106C													.	.			0			c.C316T							C	CYS/ARG	3,3731		0,3,1864	5	8	7		316	3.8	1	19		7	0,7730		0,0,3865	no	missense	KLC3	NM_177417.2	180	0,3,5729	TT,TC,CC		0.0,0.0803,0.0262	probably-damaging	106/505	45849859	3,11461	1867	3865	5732	SO:0001583	missense	147700	exon3			CGGCTGCGCTCGC	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.316C>T	19.37:g.45849859C>T	ENSP00000375810:p.Arg106Cys		30	0	0		20	0.15	3	NM_177417	5	0	0	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084818	0.76642	8.03E-4	0.0	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.47528	0.84;0.84	3.77	3.77	0.43336	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000004	T	0.59702	0.2213	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.996	T	0.61997	-0.6947	10	0.87932	D	0	-3.7865	8.8226	0.35036	0.2246:0.7754:0.0:0.0	.	106;120;106	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	C	106;120	ENSP00000375810:R106C;ENSP00000436019:R120C	ENSP00000375810:R106C	R	+	1	0	KLC3	50541699	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.428000	0.59894	2.113000	0.64589	0.455000	0.32223	CGC			0.711	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000289776.1		NM_145275		T	45849859	C	T	45849859	3	4	92	1	0	0	0	0	1	0	0	0	8350	768	27	1	322	1	KLC3	19	45849859	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10	4840112	45849859	13279124	76	6513											
NOSIP	51070	ucsc.edu	37	chr19	50060501	50060501	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgccccgctgcttctcGtaggcctgcgtcggggaaag	4	8	16	13	5	1	0	0	0	1	0	3	1	1	1	3	4	3	3	3	4	2	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr19:50060501G>T	ENST00000596358.1	-	5	322	c.264C>A	c.(262-264)taC>taA	p.Y88*	NOSIP_ENST00000391853.3_Nonsense_Mutation_p.Y88*|NOSIP_ENST00000339093.3_Nonsense_Mutation_p.Y88*	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	88					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		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;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCTGCTTCTCGTAGGCCTGCG	0.647																																					p.Y88X													NOSIP,NS,carcinoma,0,1	NOSIP	28	1	0			c.C264A												14	15	15					19																	50060501		2200	4292	6492	SO:0001587	stop_gained	51070	exon6			CTTCTCGTAGGCC	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.264C>A	19.37:g.50060501G>T	ENSP00000470034:p.Tyr88*		46	0	0		35	0.11	4	NM_015953	263	0	0	Q96FD2	Nonsense_Mutation	SNP	ENST00000596358.1	37	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114722	0.77210	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	.	.	.	5.15	-7.5	0.01351	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3621	10.2575	0.43405	0.649:0.1059:0.2451:0.0	.	.	.	.	X	88	.	ENSP00000343497:Y88X	Y	-	3	2	NOSIP	54752313	0.009000	0.17119	0.695000	0.30226	0.764000	0.43329	-1.471000	0.02344	-1.409000	0.02038	-0.448000	0.05591	TAC			0.647	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000465423.1				T	50060501	G	T	50060501	4	4	92	1	0	0	0	0	0	1	0	0	10562	1140	40	1	661	1	NOSIP	19	50060501	Nonsense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	4210642	50060501	9068482	77	6514											
POLD1	5424	mdanderson.org	37	chr19	50910291	50910291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtactgcctgaaggatGcctacctgccactgcggctg	6	10	12	13	1	0	1	0	1	0	0	0	2	0	2	4	2	6	2	4	2	3	2			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr19:50910291G>T	ENST00000440232.2	+	13	1599	c.1546G>T	c.(1546-1548)Gcc>Tcc	p.A516S	POLD1_ENST00000595904.1_Missense_Mutation_p.A516S|POLD1_ENST00000599857.1_Missense_Mutation_p.A516S	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	516					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCTGAAGGATGCCTACCTGCC	0.672								DNA polymerases (catalytic subunits)																													p.A516S													.	.			0			c.G1546T												65	69	68					19																	50910291		2203	4300	6503	SO:0001583	missense	5424	exon13			AAGGATGCCTACC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1546G>T	19.37:g.50910291G>T	ENSP00000406046:p.Ala516Ser		46	0	0		46	0.07	3	NM_002691	73	0	0	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493818	0.64186	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.19938	2.11	3.96	3.96	0.45880	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.65677	2.01	0.80722	D	1	P;P	0.42961	0.795;0.795	B;B	0.42422	0.316;0.387	T	0.21793	-1.0235	10	0.59425	D	0.04	-35.3512	15.6703	0.77267	0.0:0.0:1.0:0.0	.	516;516	E7EVW0;P28340	.;DPOD1_HUMAN	S	516;517	ENSP00000406046:A516S	ENSP00000366129:A517S	A	+	1	0	POLD1	55602103	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	7.074000	0.76791	2.157000	0.67596	0.313000	0.20887	GCC			0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464732.1				T	50910291	G	T	50910291	3	4	92	1	0	0	0	0	1	0	0	0	12207	1319	46	2	1592	2	POLD1	19	50910291	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	849790	50910291	8218692	78	6515											
U2AF2	11338	mdanderson.org	37	chr19	56180496	56180496	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggataagaagctgctGgtccagagggcgagtgtggg	8	7	20	6	1	0	2	0	0	0	2	1	4	1	3	1	5	2	2	1	5	2	1			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr19:56180496G>T	ENST00000308924.4	+	10	1033	c.993G>T	c.(991-993)ctG>ctT	p.L331L	CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000450554.2_Silent_p.L331L|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Silent_p.L167L|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	331	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 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)		AGAAGCTGCTGGTCCAGAGGG	0.662																																					p.L331L													.	.			0			c.G993T												43	43	43					19																	56180496		2203	4300	6503	SO:0001819	synonymous_variant	11338	exon10			GCTGCTGGTCCAG	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.993G>T	19.37:g.56180496G>T			91	0	0		49	0.06	3	NM_001012478	610	0	0	Q96HC5	Silent	SNP	ENST00000308924.4	37	CCDS12933.1																																																																																					0.662	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000453599.1		NM_007279		T	56180496	G	T	56180496	2	4	92	1	0	0	0	0	0	0	0	1	16847	1335	47	3		3	U2AF2	19	56180496	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	5270205	56180496	2948487	79	6516											
BCL2L1	598	broad.mit.edu	37	chr20	30309595	30309595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccccgccgaaggagaaaaAggccacaatgcgaccccagt	13	3	11	14	3	0	1	0	0	0	1	0	4	0	1	6	2	2	0	6	2	4	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr20:30309595A>G	ENST00000307677.4	-	2	837	c.427T>C	c.(427-429)Ttt>Ctt	p.F143L	BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000376062.2_Missense_Mutation_p.F143L|BCL2L1_ENST00000420653.1_Missense_Mutation_p.F143L	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	143					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAGGAGAAAAAGGCCACAATG	0.537																																					p.F143L	Colon(51;693 1004 1401 20431 21026)												.	BCL2L1	23		0			c.T427C												201	200	200					20																	30309595		2203	4300	6503	SO:0001583	missense	598	exon2			AGAAAAAGGCCAC	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	992	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 52"	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.427T>C	20.37:g.30309595A>G	ENSP00000302564:p.Phe143Leu		240	0.0041666667	1		220	0.01	3	NM_138578	412	0	1	E1P5L6|Q5CZ89|Q5TE65|Q92976	Missense_Mutation	SNP	ENST00000307677.4	37	CCDS13189.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534051	0.45073	.	.	ENSG00000171552	ENST00000376062;ENST00000307677;ENST00000420653;ENST00000450273;ENST00000420488;ENST00000456404;ENST00000422920;ENST00000439267	T;T;T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38	5.4	5.4	0.78164	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);Apoptosis regulator, Bcl-2, BH1 motif, conserved site (1);	0.051853	0.85682	D	0.000000	T	0.03095	0.0091	N	0.00879	-1.12	0.58432	D	0.999995	B	0.26081	0.141	B	0.34180	0.177	T	0.58567	-0.7614	10	0.29301	T	0.29	-7.7013	14.7657	0.69637	1.0:0.0:0.0:0.0	.	143	Q07817	B2CL1_HUMAN	L	143	ENSP00000365230:F143L;ENSP00000302564:F143L;ENSP00000405563:F143L;ENSP00000406203:F143L;ENSP00000390760:F143L;ENSP00000395545:F143L;ENSP00000411252:F143L;ENSP00000389688:F143L	ENSP00000302564:F143L	F	-	1	0	BCL2L1	29773256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.886000	0.69743	2.277000	0.76020	0.528000	0.53228	TTT			0.537	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078575.1		NM_138578		G	30309595	A	G	30309595	3	3	92	1	0	0	0	0	1	0	0	0	1367	72	3	4	282	4	BCL2L1	20	30309595	Missense_Mutation	SNP	A	TCGA-SN-A84W-01A-11D-A435-10		30309595	32715925	80	6517											
PRIC285	85441	mdanderson.org	37	chr20	62198924	62198924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacggagaggagtggcctcgGggtggccgccgctgacgtgg	5	5	20	11	5	0	2	0	1	0	1	1	4	0	3	3	7	0	1	3	7	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr20:62198924G>T	ENST00000467148.1	-	6	1856	c.1787C>A	c.(1786-1788)cCc>cAc	p.P596H	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_Missense_Mutation_p.P27H	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	596	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)										AGTGGCCTCGGGGTGGCCGCC	0.667																																					p.P596H													.	.			0			c.C1787A												14	12	13					20																	62198924		2150	4253	6403	SO:0001583	missense	85441	exon7			GCCTCGGGGTGGC	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.1787C>A	20.37:g.62198924G>T	ENSP00000417401:p.Pro596His		43	0	0		46	0.07	3	NM_001037335	18	0	0	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304498	0.40795	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;D	0.82344	-1.42;-1.6	4.52	3.56	0.40772	ATPase, AAA+ type, core (1);	0.903362	0.09460	N	0.799149	D	0.90611	0.7056	M	0.87547	2.89	0.29277	N	0.870303	D;D	0.61697	0.98;0.99	P;P	0.57152	0.814;0.789	T	0.83058	-0.0149	10	0.51188	T	0.08	-10.8385	13.9546	0.64140	0.0:0.0:0.8474:0.1526	.	596;27	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	H	27;596	ENSP00000393257:P27H;ENSP00000417401:P596H	ENSP00000393257:P27H	P	-	2	0	RP4-697K14.7	61669368	0.092000	0.21681	0.479000	0.27329	0.005000	0.04900	2.052000	0.41316	0.890000	0.36211	0.491000	0.48974	CCC			0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354127.1		NM_001037335		T	62198924	G	T	62198924	3	4	92	1	0	0	0	0	1	0	0	0	12505	1232	43	3	6218	3	PRIC285	20	62198924	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	31889329	62198924	826596	81	6518											
MICAL3	57553	broad.mit.edu	37	chr22	18314645	18314645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggactcttcctcctcctcGtcatagtcctcctcctcctc	3	14	4	20	1	2	0	1	0	1	0	11	1	9	1	7	1	0	0	7	1	1	2	rs551069272		TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chr22:18314645G>T	ENST00000441493.2	-	21	3382	c.3030C>A	c.(3028-3030)gaC>gaA	p.D1010E		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1010	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)		cctcctcctcgtcatagtcct	0.527													G|||	1	0.000199681	0	0	5008	,	,		19181	0.001		0	False		,,,				2504	0				p.D1010E													.	MICAL3	53		0			c.C3030A												122	104	109					22																	18314645		1533	3523	5056	SO:0001583	missense	57553	exon21			CTCCTCGTCATAG	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.3030C>A	22.37:g.18314645G>T	ENSP00000416015:p.Asp1010Glu		144	0	0		86	0.03	3	NM_015241	4	0	0	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	2.170	-0.390133	0.04932	.	.	ENSG00000093100	ENST00000441493	T	0.60672	0.17	5.27	-10.5	0.00291	.	.	.	.	.	T	0.20820	0.0501	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57854	-0.7739	9	0.02654	T	1	.	3.4957	0.07654	0.2037:0.084:0.4238:0.2885	.	1010	Q7RTP6	MICA3_HUMAN	E	1010	ENSP00000416015:D1010E	ENSP00000416015:D1010E	D	-	3	2	XXbac-B461K10.4	16694645	0.000000	0.05858	0.001000	0.08648	0.286000	0.27126	-1.791000	0.01758	-5.410000	0.00015	-1.333000	0.01266	GAC			0.527	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447351.1				T	18314645	G	T	18314645	3	4	92	1	0	0	0	0	1	0	0	0	9587	1136	40	1	3026	1	MICAL3	22	18314645	Missense_Mutation	SNP	G	TCGA-SN-A84W-01A-11D-A435-10		18314645	32989921	82	6519											
FAM9A	171482	mdanderson.org	37	chrX	8763195	8763195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccttctcctcctcctcctCcttcttctccttcttctcct	0	19	0	22	0	5	0	0	0	5	0	13	0	10	0	8	0	0	0	8	0	0	5			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chrX:8763195C>T	ENST00000543214.1	-	7	890	c.755G>A	c.(754-756)gGa>gAa	p.G252E	FAM9A_ENST00000381003.3_Missense_Mutation_p.G252E	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	252	Glu-rich.|Poly-Gly.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcctcctcctccttcttctcc	0.463																																					p.G252E													.	.			0			c.G755A												42	36	38					X																	8763195		2193	4278	6471	SO:0001583	missense	171482	exon7			CCTCCTCCTTCTT		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.755G>A	X.37:g.8763195C>T	ENSP00000440163:p.Gly252Glu		18	0	0		36	0.08	3	NM_174951	0		0	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.786172	0.00078	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.507	-1.01	0.10169	.	.	.	.	.	T	0.15046	0.0363	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19160	-1.0314	7	0.87932	D	0	.	.	.	.	.	252	Q8IZU1	FAM9A_HUMAN	E	252	.	ENSP00000370391:G252E	G	-	2	0	FAM9A	8723195	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-1.395000	0.02516	-1.592000	0.01619	-1.314000	0.01303	GGA			0.463	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055697.1		NM_174951		T	8763195	C	T	8763195	3	4	92	1	0	0	0	0	1	0	0	0	5672	855	30	3	255	3	FAM9A	23	8763195	Missense_Mutation	SNP	C	TCGA-SN-A84W-01A-11D-A435-10		8763195	146507365	83	6520											
SPIN2A	54466	broad.mit.edu	37	chrX	57162583	57162583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttgagctaagaccaTccccctccattcatccttag	9	11	7	14	0	1	2	1	1	0	1	4	2	4	2	5	1	2	2	5	1	2	4			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chrX:57162583T>C	ENST00000374908.1	-	1	847	c.448A>G	c.(448-450)Atg>Gtg	p.M150V	SPIN2A_ENST00000374906.3_Missense_Mutation_p.M150V			Q99865	SPI2A_HUMAN	spindlin family, member 2A	150					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				breast(1)|kidney(1)|ovary(1)	3						GCTAAGACCATCCCCCTCCAT	0.413																																					p.M150V													.	SPIN2A	7		0			c.A448G												88	79	82					X																	57162583		2201	4294	6495	SO:0001583	missense	54466	exon2			AGACCATCCCCCT	Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"spindlin family, member 2"	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.448A>G	X.37:g.57162583T>C	ENSP00000364043:p.Met150Val		389	0.0025706941	1		667	0.01	7	NM_019003	0		0	O75650|Q6IPW2|Q9UJJ0	Missense_Mutation	SNP	ENST00000374908.1	37	CCDS35312.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.471027	0.26423	.	.	ENSG00000147059	ENST00000374908;ENST00000374906	T;T	0.45276	0.9;0.9	2.74	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	L	0.33753	1.03	0.39768	D	0.972128	P	0.42827	0.791	P	0.62740	0.906	T	0.32428	-0.9907	10	0.23302	T	0.38	-23.7792	8.4178	0.32681	0.0:0.0:0.0:1.0	.	150	Q99865	SPI2A_HUMAN	V	150	ENSP00000364043:M150V;ENSP00000364041:M150V	ENSP00000364041:M150V	M	-	1	0	SPIN2A	57179308	1.000000	0.71417	0.997000	0.53966	0.897000	0.52465	6.373000	0.73128	1.327000	0.45338	0.345000	0.21793	ATG			0.413	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058915.1		NM_019003		C	57162583	T	C	57162583	3	2	92	1	0	0	0	0	1	0	0	0	15076	1435	50	4	332	4	SPIN2A	23	57162583	Missense_Mutation	SNP	T	TCGA-SN-A84W-01A-11D-A435-10	48399388	57162583	98107977	84	6521											
ARHGAP4	393	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	153174596	153174596	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtccagagggtcccatGgcctcaggtgaggtgcatgg	6	9	16	10	0	1	2	1	1	0	1	3	2	3	2	3	5	1	1	3	5	0	0			TCGA-SN-A84W-01A-11D-A435-10	TCGA-SN-A84W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7cc41d24-e0f3-46ee-a8a3-52a28666742b	b4c25462-07cf-4f0c-a865-a6dcc36a802b	g.chrX:153174596G>T	ENST00000350060.5	-	21	2576	c.2535C>A	c.(2533-2535)gcC>gcA	p.A845A	ARHGAP4_ENST00000537206.1_Silent_p.A822A|ARHGAP4_ENST00000370016.1_Silent_p.A824A|ARHGAP4_ENST00000370028.3_Silent_p.A885A|ARHGAP4_ENST00000393721.1_Silent_p.A667A|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	845					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)					AGGGTCCCATGGCCTCAGGTG	0.647																																					p.A885A													.	.			0			c.C2655A												99	72	81					X																	153174596		2203	4300	6503	SO:0001819	synonymous_variant	393	exon22			TCCCATGGCCTCA	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.2535C>A	X.37:g.153174596G>T			40	0	0		61	0.08	5	NM_001164741	70	0	0	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1																																																																																					0.647	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061119.1		NM_001666		T	153174596	G	T	153174596	2	4	92	1	0	0	0	0	0	0	0	1	885	1335	47	3		3	ARHGAP4	23	153174596	Silent	SNP	G	TCGA-SN-A84W-01A-11D-A435-10	96012013	153174596	2095964	85	6522											
FLG	2312	broad.mit.edu;mdanderson.org	37	chr1	152276832	152276832	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagagctgtccgcctgagtGgaagcttcatggtgatgcga	8	10	14	9	2	1	3	1	2	0	1	2	5	2	4	2	2	3	2	2	2	2	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr1:152276832G>C	ENST00000368799.1	-	3	10565	c.10530C>G	c.(10528-10530)tcC>tcG	p.S3510S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3510	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)			CCGCCTGAGTGGAAGCTTCAT	0.572									Ichthyosis																												p.S3510S													.	FLG	900		0			c.C10530G												236	230	232					1																	152276832		2203	4297	6500	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGAGTGGAAGCT	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.10530C>G	1.37:g.152276832G>C			82	0	0		86	0.05	4	NM_002016	102	0	0	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																					0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033742.1		NM_002016		C	152276832	G	C	152276832	2	2	93	1	0	0	0	0	0	0	0	1	5935	1335	47	5		5	FLG	1	152276832	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		152276832	96973789	1	6523											
FLG	2312	ucsc.edu	37	chr1	152281562	152281562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagcagacccagaccAcctctcagagtcttctgagt	10	9	9	13	0	4	4	1	1	4	3	5	5	4	5	3	1	1	1	3	1	1	1	rs548103791		TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr1:152281562A>G	ENST00000368799.1	-	3	5835	c.5800T>C	c.(5800-5802)Tgg>Cgg	p.W1934R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1934	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)			GACCCAGACCACCTCTCAGAG	0.572									Ichthyosis																												p.W1934R													FLG,NS,carcinoma,+2,1	FLG	900	1	0			c.T5800C												215	212	213					1																	152281562		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CAGACCACCTCTC	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.5800T>C	1.37:g.152281562A>G	ENSP00000357789:p.Trp1934Arg		155	0.0064516129	1		202	0	1	NM_002016	28	0.86	24	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|A	1.176|1.176	-0.639503|-0.639503	0.03557|0.03557	.|.	.|.	ENSG00000143631|ENSG00000143631	ENST00000271820|ENST00000368799	.|T	.|0.01560	.|4.77	3.01|3.01	0.0884|0.0884	0.14455|0.14455	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00300	.|0.0009	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.33445	.|-0.9868	.|9	.|0.15952	.|T	.|0.53	.|.	5.5986|5.5986	0.17341|0.17341	0.388:0.0:0.612:0.0|0.388:0.0:0.612:0.0	.|.	.|1934	.|P20930	.|FILA_HUMAN	.|R	-1|1934	.|ENSP00000357789:W1934R	.|ENSP00000357789:W1934R	.|W	-|-	.|1	.|0	FLG|FLG	150548186|150548186	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.227000|0.227000	0.17795|0.17795	0.021000|0.021000	0.15133|0.15133	-1.076000|-1.076000	0.02234|0.02234	.|TGG			0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033742.1		NM_002016		G	152281562	A	G	152281562	3	3	93	1	0	0	0	0	1	0	0	0	5935	159	6	4	6389	4	FLG	1	152281562	Missense_Mutation	SNP	A	TCGA-SN-A84X-01A-11D-A435-10	4730	152281562	96969059	2	6524											
NR1I3	9970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	161200952	161200952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagagcacatactcaggctCttggagctgcagttttcgta	10	11	10	10	1	2	1	1	0	1	1	3	2	2	2	0	2	4	6	0	2	3	5			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr1:161200952C>T	ENST00000367982.4	-	7	933	c.778G>A	c.(778-780)Gag>Aag	p.E260K	NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367983.4_Missense_Mutation_p.E256K|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000508740.1_Missense_Mutation_p.E227K|NR1I3_ENST00000412844.2_Missense_Mutation_p.E231K|NR1I3_ENST00000367980.2_Missense_Mutation_p.E260K|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000442691.2_Missense_Mutation_p.E260K|NR1I3_ENST00000506209.1_Missense_Mutation_p.E227K|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000515621.1_Missense_Mutation_p.E181K|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.E260K|NR1I3_ENST00000511676.1_Missense_Mutation_p.E227K|NR1I3_ENST00000367981.3_Missense_Mutation_p.E227K|NR1I3_ENST00000428574.2_Missense_Mutation_p.E256K|NR1I3_ENST00000437437.2_Missense_Mutation_p.E227K			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	260					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TACTCAGGCTCTTGGAGCTGC	0.527																																					p.E260K													.	.			0			c.G778A												59	60	59					1																	161200952		2203	4300	6503	SO:0001583	missense	9970	exon7			CAGGCTCTTGGAG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.778G>A	1.37:g.161200952C>T	ENSP00000356961:p.Glu260Lys		107	0	0		146	0.25	36	NM_001077478	0		0	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403756	0.42613	.	.	ENSG00000143257	ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000508740;ENST00000367982;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367979;ENST00000506209	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.56	4.65	0.58169	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.218899	0.47093	N	0.000249	D	0.90700	0.7082	L	0.54908	1.71	0.41678	D	0.989274	P;P;B;B;P;B;B;B;B;P;P;P	0.48350	0.52;0.82;0.279;0.209;0.681;0.452;0.127;0.378;0.321;0.842;0.909;0.82	B;B;B;B;B;B;B;B;B;B;P;B	0.44422	0.297;0.315;0.203;0.136;0.119;0.33;0.039;0.204;0.09;0.334;0.449;0.157	D	0.90168	0.4233	9	0.56958	D	0.05	.	8.5839	0.33646	0.0:0.8276:0.0:0.1724	.	227;231;256;260;260;260;181;227;227;227;227;256	E9PCF2;E9PHN4;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.	K	256;260;227;260;231;256;227;260;227;227;181;260;227	ENSP00000356962:E256K;ENSP00000356959:E260K;ENSP00000407446:E227K;ENSP00000406493:E260K;ENSP00000399361:E231K;ENSP00000412672:E256K;ENSP00000423666:E227K;ENSP00000356961:E260K;ENSP00000427175:E227K;ENSP00000356960:E227K;ENSP00000421588:E181K;ENSP00000356958:E260K;ENSP00000423089:E227K	ENSP00000356958:E260K	E	-	1	0	NR1I3	159467576	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	2.084000	0.41625	1.353000	0.45828	-0.258000	0.10820	GAG			0.527	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000083048.2				T	161200952	C	T	161200952	3	4	93	1	0	0	0	0	1	0	0	0	10638	922	32	3	402	3	NR1I3	1	161200952	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	8919390	161200952	88049669	3	6525											
C2orf16	84226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27804669	27804669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgagagaagccatcacAgtccctctgagagaagacat	13	7	9	12	0	3	5	1	2	2	3	4	7	4	5	3	0	1	0	3	0	2	0			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr2:27804669A>T	ENST00000408964.2	+	1	5281	c.5230A>T	c.(5230-5232)Agt>Tgt	p.S1744C	ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1744	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGCCATCACAGTCCCTCTGA	0.557																																					p.S1744C													.	.			0			c.A5230T												193	197	196					2																	27804669		1920	4140	6060	SO:0001583	missense	84226	exon1			CATCACAGTCCCT	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5230A>T	2.37:g.27804669A>T	ENSP00000386190:p.Ser1744Cys		73	0	0		98	0.32	31	NM_032266	0		0	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.575206	0.45902	.	.	ENSG00000221843	ENST00000408964	T	0.05855	3.38	3.63	0.0672	0.14365	.	.	.	.	.	T	0.16428	0.0395	M	0.65498	2.005	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.13045	-1.0524	9	0.72032	D	0.01	.	2.9709	0.05923	0.4745:0.0:0.3298:0.1957	.	1744	Q68DN1	CB016_HUMAN	C	1744	ENSP00000386190:S1744C	ENSP00000386190:S1744C	S	+	1	0	C2orf16	27658173	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.244000	0.08903	-0.004000	0.14419	0.379000	0.24179	AGT			0.557	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353292.1		NM_032266		T	27804669	A	T	27804669	3	4	93	1	0	0	0	0	1	0	0	0	2159	188	7	5	5232	5	C2orf16	2	27804669	Missense_Mutation	SNP	A	TCGA-SN-A84X-01A-11D-A435-10		27804669	215394704	4	6526											
RGPD4	285190	ucsc.edu	37	chr2	108487826	108487826	+	Silent	SNP	C	C	T																															actacaatgaacctgaagccCctgtctggatcagatagagc																								rs2556258	byFrequency	TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr2:108487826C>T	ENST00000408999.3	+	20	3443	c.3366C>T	c.(3364-3366)ccC>ccT	p.P1122P	RGPD4_ENST00000354986.4_Silent_p.P1122P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1122	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCTGAAGCCCCTGTCTGGAT	0.438													N|||	1974	0.394169	0.4145	0.3199	5008	,	,		10220	0.1458		0.5437	False		,,,				2504	0.5215				p.P1122P													.	RGPD4	112		0			c.C3366T												7	6	6					2																	108487826		280	760	1040	SO:0001819	synonymous_variant	285190	exon20			GAAGCCCCTGTCT	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.3366C>T	2.37:g.108487826C>T			15	0.1333333333	2		13	0.31	4	NM_182588	0		0	B9A029	Silent	SNP	ENST00000408999.3	37	CCDS46381.1																																																																																					0.438	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330096.2		XM_496581		T	108487826	C	T	108487826	2	4	93	1	0	0	0	0	0	0	0	1	13311	610	22	3		3	RGPD4	2	108487826	Silent	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	80683157	108487826	134711547	5	6527	13	2									
RGPD4	285190	ucsc.edu	37	chr2	108487829	108487829	+	Silent	SNP	G	G	C																															acaatgaacctgaagcccctGtctggatcagatagagcatg																								rs141407602	byFrequency	TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr2:108487829G>C	ENST00000408999.3	+	20	3446	c.3369G>C	c.(3367-3369)ctG>ctC	p.L1123L	RGPD4_ENST00000354986.4_Silent_p.L1123L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1123	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAAGCCCCTGTCTGGATCAG	0.448													N|||	2210	0.441294	0.6142	0.3199	5008	,	,		9963	0.1319		0.5358	False		,,,				2504	0.5153				p.L1123L													.	RGPD4	112		0			c.G3369C												7	7	7					2																	108487829		280	762	1042	SO:0001819	synonymous_variant	285190	exon20			GCCCCTGTCTGGA	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.3369G>C	2.37:g.108487829G>C			16	0.125	2		13	0.31	4	NM_182588	0		0	B9A029	Silent	SNP	ENST00000408999.3	37	CCDS46381.1																																																																																					0.448	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330096.2		XM_496581		C	108487829	G	C	108487829	2	2	93	1	0	0	0	0	0	0	0	1	13311	1364	48	5		5	RGPD4	2	108487829	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	3	108487829	134711544	6	6528	13	2									
CSRNP3	80034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	166514444	166514444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgccagtacactcttggcGagtttgcaagggagcaggag	9	8	15	9	2	1	0	0	0	1	0	1	3	1	2	1	3	4	4	1	3	2	3			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr2:166514444G>A	ENST00000342316.4	+	3	594	c.322G>A	c.(322-324)Gag>Aag	p.E108K	CSRNP3_ENST00000409420.1_Missense_Mutation_p.E140K|CSRNP3_ENST00000314499.7_Missense_Mutation_p.E108K	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	108					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						CACTCTTGGCGAGTTTGCAAG	0.532																																					p.E108K													CSRNP3,NS,carcinoma,0,1	CSRNP3	0	1	0			c.G322A												58	50	53					2																	166514444		2203	4300	6503	SO:0001583	missense	80034	exon5			CTTGGCGAGTTTG	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.322G>A	2.37:g.166514444G>A	ENSP00000344042:p.Glu108Lys		154	0	0		168	0.39	65	NM_001172173	0		0	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619415	0.96649	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.52177	-0.8610	10	0.52906	T	0.07	-15.1981	19.2442	0.93895	0.0:0.0:1.0:0.0	.	108	Q8WYN3	CSRN3_HUMAN	K	108;115;108;108;108;140	ENSP00000412081:E108K;ENSP00000318258:E108K;ENSP00000386278:E108K;ENSP00000344042:E108K;ENSP00000387195:E140K	ENSP00000318258:E108K	E	+	1	0	CSRNP3	166222690	1.000000	0.71417	0.956000	0.39512	0.917000	0.54804	9.813000	0.99286	2.544000	0.85801	0.563000	0.77884	GAG			0.532	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255191.2		NM_024969		A	166514444	G	A	166514444	3	1	93	1	0	0	0	0	1	0	0	0	3967	1059	37	1	328	1	CSRNP3	2	166514444	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	58026615	166514444	76684929	7	6529											
FAM117B	150864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	203591019	203591019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtaaacacagcagtcGgcatcatcgagataaagaaa	19	5	10	7	2	1	3	1	0	0	3	3	5	1	3	0	1	2	3	0	1	6	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr2:203591019G>A	ENST00000392238.2	+	4	893	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	FAM117B_ENST00000303116.6_Missense_Mutation_p.R54Q			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	298										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CACAGCAGTCGGCATCATCGA	0.398																																					p.R298Q													.	.			0			c.G893A												161	151	154					2																	203591019		2203	4300	6503	SO:0001583	missense	150864	exon4			GCAGTCGGCATCA	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.893G>A	2.37:g.203591019G>A	ENSP00000376071:p.Arg298Gln		242	0	0		232	0.41	96	NM_173511	1	1	1	Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	G	34	5.336758	0.95758	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.71	5.71	0.89125	.	0.102535	0.64402	D	0.000006	T	0.76786	0.4036	L	0.55990	1.75	0.51767	D	0.999935	D	0.89917	1.0	D	0.83275	0.996	T	0.74893	-0.3509	9	0.45353	T	0.12	-15.6943	19.4656	0.94935	0.0:0.0:1.0:0.0	.	298	Q6P1L5	F117B_HUMAN	Q	54;298	.	ENSP00000306299:R54Q	R	+	2	0	FAM117B	203299264	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	8.451000	0.90343	2.691000	0.91804	0.563000	0.77884	CGG			0.398	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000335888.3		NM_173511		A	203591019	G	A	203591019	3	1	93	1	0	0	0	0	1	0	0	0	5420	1116	39	1	907	1	FAM117B	2	203591019	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	37076575	203591019	39608354	8	6530											
VIL1	7429	mdanderson.org	37	chr2	219301338	219301338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtgttcctactagatGtctgggaccaggtaggacca	10	11	12	8	0	1	2	0	1	1	1	2	4	2	4	3	3	1	2	3	3	3	4			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr2:219301338G>T	ENST00000248444.5	+	16	2048	c.1960G>T	c.(1960-1962)Gtc>Ttc	p.V654F	VIL1_ENST00000392114.2_Missense_Mutation_p.V343F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	654	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)		CCTACTAGATGTCTGGGACCA	0.532																																					p.V654F													.	.			0			c.G1960T												106	109	108					2																	219301338		2203	4300	6503	SO:0001583	missense	7429	exon16			CTAGATGTCTGGG	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.1960G>T	2.37:g.219301338G>T	ENSP00000248444:p.Val654Phe		64	0	0		89	0.06	5	NM_007127	1	0	0	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862437	0.71949	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.21932	1.98;1.98	5.36	4.49	0.54785	Gelsolin domain (1);	0.546765	0.17960	N	0.156215	T	0.23965	0.0580	L	0.34521	1.04	0.80722	D	1	P	0.34699	0.464	B	0.43889	0.435	T	0.06215	-1.0839	10	0.87932	D	0	-22.2071	11.4867	0.50358	0.1498:0.0:0.8502:0.0	.	654	P09327	VILI_HUMAN	F	654;343	ENSP00000248444:V654F;ENSP00000375962:V343F	ENSP00000248444:V654F	V	+	1	0	VIL1	219009582	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	2.820000	0.48057	1.398000	0.46701	0.655000	0.94253	GTC			0.532	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256778.3		NM_007127		T	219301338	G	T	219301338	3	4	93	1	0	0	0	0	1	0	0	0	17188	1377	48	3	2018	3	VIL1	2	219301338	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	15710319	219301338	23898035	9	6531											
COL4A4	1286	mdanderson.org	37	chr2	227983443	227983443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgtggccactcataccaGgtttgcctctgggtccagga	7	11	11	12	0	2	0	1	0	1	0	3	1	3	1	4	4	2	1	4	4	1	3			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr2:227983443G>T	ENST00000396625.3	-	7	614	c.407C>A	c.(406-408)cCt>cAt	p.P136H	COL4A4_ENST00000329662.7_Missense_Mutation_p.P136H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	136	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)		ACTCATACCAGGTTTGCCTCT	0.498																																					p.P136H													.	.			0			c.C407A												65	65	65					2																	227983443		1837	4083	5920	SO:0001583	missense	1286	exon7			ATACCAGGTTTGC		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.407C>A	2.37:g.227983443G>T	ENSP00000379866:p.Pro136His		26	0	0		21	0.1	2	NM_000092	1	0	0	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316730	0.60524	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96774	-4.12;-4.12	5.44	5.44	0.79542	.	.	.	.	.	D	0.96546	0.8873	M	0.88704	2.975	0.47905	D	0.999543	P	0.47604	0.898	B	0.42138	0.377	D	0.96924	0.9676	9	0.56958	D	0.05	.	15.6466	0.77061	0.0:0.0:0.8624:0.1376	.	136	P53420	CO4A4_HUMAN	H	136	ENSP00000379866:P136H;ENSP00000328553:P136H	ENSP00000328553:P136H	P	-	2	0	COL4A4	227691687	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	1.082000	0.30803	2.538000	0.85594	0.655000	0.94253	CCT			0.498	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313770.1		NM_000092		T	227983443	G	T	227983443	3	4	93	1	0	0	0	0	1	0	0	0	3695	1000	35	3	4833	3	COL4A4	2	227983443	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	8682105	227983443	15215930	10	6532											
CCR9	10803	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	45942703	45942703	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgatcatgtgcatcagCgtggacaggtacattgccat	9	12	11	9	1	2	1	2	1	0	0	2	2	2	2	1	2	5	3	1	2	1	3	rs201764174		TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr3:45942703C>T	ENST00000357632.2	+	3	603	c.423C>T	c.(421-423)agC>agT	p.S141S	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.S129S|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.S129S	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	141					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGTGCATCAGCGTGGACAGGT	0.478																																					p.S141S													.	CCR9	45		0			c.C423T												145	136	139					3																	45942703		2203	4300	6503	SO:0001819	synonymous_variant	10803	exon3			CATCAGCGTGGAC	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.423C>T	3.37:g.45942703C>T			68	0.0147058824	1		121	0.16	19	NM_031200	0		0	Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	CCDS2732.1																																																																																					0.478	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257323.2				T	45942703	C	T	45942703	2	4	93	1	0	0	0	0	0	0	0	1	2950	767	27	1		1	CCR9	3	45942703	Silent	SNP	C	TCGA-SN-A84X-01A-11D-A435-10		45942703	152079727	11	6533											
HEG1	57493	mdanderson.org	37	chr3	124716650	124716650	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacattcgggactcttccGcttgcacaagctgcccgctg	6	10	10	15	3	2	0	1	0	1	0	4	1	3	1	2	1	3	4	2	1	1	3			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr3:124716650G>T	ENST00000311127.4	-	12	3602	c.3535C>A	c.(3535-3537)Cgg>Agg	p.R1179R		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1179					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						GGACTCTTCCGCTTGCACAAG	0.478																																					p.R1179R													.	.			0			c.C3535A												38	42	41					3																	124716650		1948	4154	6102	SO:0001819	synonymous_variant	57493	exon12			TCTTCCGCTTGCA	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.3535C>A	3.37:g.124716650G>T			46	0	0		34	0.12	4	NM_020733	1	0	0	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																					0.478	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355732.2		XM_087386		T	124716650	G	T	124716650	2	4	93	1	0	0	0	0	0	0	0	1	7059	1086	38	1		1	HEG1	3	124716650	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	78773947	124716650	73305780	12	6534											
PIK3CB	5291	mdanderson.org	37	chr3	138374260	138374260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagtctttccgaactgtgtGggccatccagttcactttag	7	14	10	10	1	2	0	1	0	1	0	4	1	4	0	3	1	1	2	3	1	3	5			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr3:138374260G>T	ENST00000477593.1	-	23	3257	c.3184C>A	c.(3184-3186)Cac>Aac	p.H1062N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.H1062N|PIK3CB_ENST00000544716.1_Missense_Mutation_p.H513N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1062	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)			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)	CGAACTGTGTGGGCCATCCAG	0.403																																					p.H1062N													.	.			0			c.C3184A												150	137	141					3																	138374260		2203	4300	6503	SO:0001583	missense	5291	exon22			CTGTGTGGGCCAT		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.3184C>A	3.37:g.138374260G>T	ENSP00000418143:p.His1062Asn		123	0	0		116	0.04	5	NM_006219	24	0	0	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356359	0.82243	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.80123	-1.34;-0.46;-1.34	5.55	5.55	0.83447	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.93706	0.7989	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.998	D	0.95067	0.8201	10	0.87932	D	0	-20.7509	19.6982	0.96039	0.0:0.0:1.0:0.0	.	1062;649;513	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	N	1062;513;1062	ENSP00000418143:H1062N;ENSP00000438259:H513N;ENSP00000289153:H1062N	ENSP00000289153:H1062N	H	-	1	0	PIK3CB	139856950	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.657000	0.98554	2.894000	0.99253	0.655000	0.94253	CAC			0.403	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358019.1				T	138374260	G	T	138374260	3	4	93	1	0	0	0	0	1	0	0	0	11931	1348	47	3	30	3	PIK3CB	3	138374260	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	13657610	138374260	59648170	13	6535											
PDS5A	23244	broad.mit.edu;mdanderson.org	37	chr4	39864513	39864513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccataggattctgcttaaTgtattccctgcgtatactga	10	14	8	9	1	1	1	0	1	1	0	2	2	2	2	2	1	4	3	2	1	5	7			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr4:39864513T>C	ENST00000303538.8	-	25	3486	c.2947A>G	c.(2947-2949)Att>Gtt	p.I983V		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						TTCTGCTTAATGTATTCCCTG	0.383																																					p.I983V													.	PDS5A	114		0			c.A2947G												99	96	97					4																	39864513		1895	4114	6009	SO:0001583	missense	23244	exon25			GCTTAATGTATTC	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.2947A>G	4.37:g.39864513T>C	ENSP00000303427:p.Ile983Val		50	0	0		53	0.08	4	NM_001100399	6	0	0		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572021	0.45798	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	N	0.16790	0.44	0.80722	D	1	B	0.31910	0.346	B	0.40636	0.335	T	0.44636	-0.9315	8	.	.	.	-14.8306	15.8533	0.78952	0.0:0.0:0.0:1.0	.	983	Q29RF7	PDS5A_HUMAN	V	983	.	.	I	-	1	0	PDS5A	39540908	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.060000	0.64312	2.147000	0.66899	0.460000	0.39030	ATT			0.383	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361287.1		NM_015200		C	39864513	T	C	39864513	3	2	93	1	0	0	0	0	1	0	0	0	11708	1464	51	4	1102	4	PDS5A	4	39864513	Missense_Mutation	SNP	T	TCGA-SN-A84X-01A-11D-A435-10		39864513	151289763	14	6536											
ADAMTS3	9508	mdanderson.org	37	chr4	73161498	73161498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatatttagtgtactGgaaacctggaaaaggaaata	16	10	9	6	0	0	0	0	0	0	0	1	3	1	3	2	3	2	2	2	3	8	5			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr4:73161498G>T	ENST00000286657.4	-	19	2632	c.2596C>A	c.(2596-2598)Cag>Aag	p.Q866K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	866	TSP type-1 2. {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)			TTAGTGTACTGGAAACCTGGA	0.358																																					p.Q866K	NSCLC(168;1941 2048 2918 13048 43078)												.	.			0			c.C2596A												106	98	101					4																	73161498		2203	4300	6503	SO:0001583	missense	9508	exon19			TGTACTGGAAACC	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.2596C>A	4.37:g.73161498G>T	ENSP00000286657:p.Gln866Lys		57	0	0		52	0.06	3	NM_014243	0		0	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878847	0.91740	.	.	ENSG00000156140	ENST00000286657	T	0.55052	0.54	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.63663	0.2530	M	0.79258	2.445	0.80722	D	1	P	0.46395	0.877	P	0.46885	0.53	T	0.68720	-0.5334	10	0.51188	T	0.08	.	18.6029	0.91255	0.0:0.0:1.0:0.0	.	866	O15072	ATS3_HUMAN	K	866	ENSP00000286657:Q866K	ENSP00000286657:Q866K	Q	-	1	0	ADAMTS3	73380362	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.379000	0.81126	0.650000	0.86243	CAG			0.358	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252164.2				T	73161498	G	T	73161498	3	4	93	1	0	0	0	0	1	0	0	0	267	1357	47	3	1037	3	ADAMTS3	4	73161498	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	33296985	73161498	117992778	15	6537											
CLPTM1L	81037	mdanderson.org	37	chr5	1331993	1331993	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggccaggaaatcaaaGagaagctagagagaacacac	20	4	10	7	0	1	3	1	0	0	3	1	6	1	4	1	2	2	1	1	2	7	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr5:1331993G>T	ENST00000320895.5	-	8	1154	c.897C>A	c.(895-897)ctC>ctA	p.L299L	CLPTM1L_ENST00000507807.1_Silent_p.L166L|CLPTM1L_ENST00000320927.6_Silent_p.L299L	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	299					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGAAATCAAAGAGAAGCTAGA	0.512																																					p.L299L													.	.			0			c.C897A												95	89	91					5																	1331993		2203	4297	6500	SO:0001819	synonymous_variant	81037	exon8			ATCAAAGAGAAGC	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.897C>A	5.37:g.1331993G>T			29	0	0		24	0.13	3	NM_030782	179	0	0	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	CCDS3862.1																																																																																					0.512	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253649.2		NM_030782		T	1331993	G	T	1331993	2	4	93	1	0	0	0	0	0	0	0	1	3557	929	33	3		3	CLPTM1L	5	1331993	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		1331993	179583267	16	6538											
MAP1B	4131	mdanderson.org	37	chr5	71495134	71495134	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtctagaaggcttctGgatgacatcagcaatggcta	12	9	13	7	0	3	3	1	1	2	2	3	5	3	4	0	4	1	3	0	4	4	3			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr5:71495134G>T	ENST00000296755.7	+	5	6250	c.5952G>T	c.(5950-5952)ctG>ctT	p.L1984L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1984					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)		GAAGGCTTCTGGATGACATCA	0.483																																					p.L1984L	Melanoma(17;367 822 11631 31730 47712)												.	.			0			c.G5952T												115	121	119					5																	71495134		2203	4300	6503	SO:0001819	synonymous_variant	4131	exon5			GCTTCTGGATGAC	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.5952G>T	5.37:g.71495134G>T			28	0	0		29	0.1	3	NM_005909	0		0	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																					0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000218561.6		NM_005909		T	71495134	G	T	71495134	2	4	93	1	0	0	0	0	0	0	0	1	9244	1335	47	3		3	MAP1B	5	71495134	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	70163141	71495134	109420126	17	6539											
SERINC5	256987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	79465352	79465352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtaccacagcttgttaCtggctgtgcctgctgtcctg	5	12	12	12	1	0	0	0	0	0	0	1	0	1	0	3	2	5	5	3	2	2	3			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr5:79465352C>T	ENST00000507668.2	-	6	719	c.569G>A	c.(568-570)aGt>aAt	p.S190N	SERINC5_ENST00000509193.1_Missense_Mutation_p.S190N|SERINC5_ENST00000512972.2_Missense_Mutation_p.S190N|SERINC5_ENST00000512721.1_Missense_Mutation_p.S190N	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	190					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CAGCTTGTTACTGGCTGTGCC	0.522																																					p.S190N													.	.			0			c.G569A												46	47	47					5																	79465352		2053	4202	6255	SO:0001583	missense	256987	exon6			TTGTTACTGGCTG	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"chromosome 5 open reading frame 12"	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.569G>A	5.37:g.79465352C>T	ENSP00000426237:p.Ser190Asn		83	0	0		68	0.35	24	NM_001174071	7	0.71	5	B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	4.244	0.044232	0.08196	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.38	-7.64	0.01286	.	0.855437	0.11085	N	0.601430	T	0.06325	0.0163	L	0.28115	0.83	0.09310	N	1	B;B;B;B	0.32101	0.143;0.027;0.356;0.229	B;B;B;B	0.31390	0.091;0.026;0.129;0.091	T	0.34453	-0.9828	10	0.02654	T	1	.	12.2869	0.54797	0.0:0.099:0.6133:0.2876	.	190;190;190;190	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	N	190;189;190;190;190	ENSP00000426237:S190N;ENSP00000426134:S190N;ENSP00000421665:S190N;ENSP00000420863:S190N	ENSP00000327542:S189N	S	-	2	0	SERINC5	79501108	0.000000	0.05858	0.000000	0.03702	0.996000	0.88848	-0.377000	0.07456	-1.407000	0.02043	0.650000	0.86243	AGT			0.522	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_178276		T	79465352	C	T	79465352	3	4	93	1	0	0	0	0	1	0	0	0	14106	565	20	3	882	3	SERINC5	5	79465352	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	7970218	79465352	101449908	18	6540											
ANKRD34B	340120	mdanderson.org	37	chr5	79855372	79855372	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtatgcttcccacagggcAactttgctgttgtgatgatg	8	14	11	8	0	0	2	0	2	0	0	1	2	1	2	1	1	3	5	1	1	3	5	rs32857	byFrequency	TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr5:79855372A>T	ENST00000338682.3	-	5	1139	c.467T>A	c.(466-468)tTg>tAg	p.L156*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	156			L -> S (in dbSNP:rs32857). {ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCCACAGGGCAACTTTGCTGT	0.418																																					p.L156X													.	.			0			c.T467A												194	189	191					5																	79855372		2203	4300	6503	SO:0001587	stop_gained	340120	exon5			CAGGGCAACTTTG		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.467T>A	5.37:g.79855372A>T	ENSP00000339802:p.Leu156*		92	0	0		111	0.05	5	NM_001004441	0		0	B2RPH1|Q68D79	Nonsense_Mutation	SNP	ENST00000338682.3	37	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	38	7.243030	0.98157	.	.	ENSG00000189127	ENST00000338682	.	.	.	5.82	5.82	0.92795	.	0.440736	0.22065	U	0.065114	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-4.5448	13.9291	0.63983	0.0733:0.0:0.9267:0.0	.	.	.	.	X	156	.	ENSP00000339802:L156X	L	-	2	0	ANKRD34B	79891128	0.892000	0.30473	0.069000	0.20011	0.324000	0.28378	2.696000	0.47052	1.476000	0.48215	-0.119000	0.15052	TTG			0.418	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369475.1		NM_001004441		T	79855372	A	T	79855372	4	4	93	1	0	0	0	0	0	1	0	0	663	131	5	5	1081	5	ANKRD34B	5	79855372	Nonsense_Mutation	SNP	A	TCGA-SN-A84X-01A-11D-A435-10	390020	79855372	101059888	19	6541											
ACSL6	23305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	131310650	131310650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcacatcgtcctgtctcGgaaagatcactttctgcagg	9	11	10	11	2	3	2	1	1	2	1	6	3	4	3	1	2	2	2	1	2	1	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr5:131310650G>A	ENST00000379240.1	-	11	1082	c.929C>T	c.(928-930)cCg>cTg	p.P310L	ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000544770.1_Missense_Mutation_p.P219L|ACSL6_ENST00000379246.1_Missense_Mutation_p.P321L|ACSL6_ENST00000543479.1_Intron|ACSL6_ENST00000296869.4_Intron|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379264.2_Missense_Mutation_p.P335L|ACSL6_ENST00000379244.1_Intron|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000431707.1_Missense_Mutation_p.P290L|ACSL6_ENST00000379272.2_Missense_Mutation_p.P325L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	310					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCCTGTCTCGGAAAGATCAC	0.493																																					p.P335L													.	.			0			c.C1004T												59	58	58					5																	131310650		2203	4300	6503	SO:0001583	missense	23305	exon11			TGTCTCGGAAAGA	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.929C>T	5.37:g.131310650G>A	ENSP00000368542:p.Pro310Leu		230	0	0		192	0.31	60	NM_001009185	1	0	0	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	G	15.72	2.917207	0.52546	.	.	ENSG00000164398	ENST00000379264;ENST00000379272;ENST00000379246;ENST00000544770;ENST00000379240;ENST00000431707	T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21	5.02	5.02	0.67125	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.05135	0.0137	N	0.05031	-0.125	0.80722	D	1	B;B;B	0.21147	0.045;0.052;0.045	B;B;B	0.20767	0.012;0.031;0.021	T	0.42899	-0.9424	9	0.11182	T	0.66	.	18.4084	0.90542	0.0:0.0:1.0:0.0	.	325;310;335	Q9UKU0-6;Q9UKU0;Q9UKU0-1	.;ACSL6_HUMAN;.	L	335;325;321;219;310;290	ENSP00000368566:P335L;ENSP00000368574:P325L;ENSP00000368548:P321L;ENSP00000445154:P219L;ENSP00000368542:P310L;ENSP00000413329:P290L	ENSP00000368542:P310L	P	-	2	0	ACSL6	131338549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.666000	0.98612	2.368000	0.80403	0.555000	0.69702	CCG			0.493	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000132622.1		NM_015256		A	131310650	G	A	131310650	3	1	93	1	0	0	0	0	1	0	0	0	181	1116	39	1	1290	1	ACSL6	5	131310650	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	51455278	131310650	49604610	20	6542											
PCDHB14	56122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140604522	140604522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagacagagactcaggcaCcaacgcccaggtcaactact	14	4	8	15	1	2	2	2	0	0	2	2	3	2	2	2	2	3	1	2	2	3	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr5:140604522C>A	ENST00000239449.4	+	1	1445	c.1445C>A	c.(1444-1446)aCc>aAc	p.T482N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T329N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	482	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)			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)			GACTCAGGCACCAACGCCCAG	0.647																																					p.T482N	Ovarian(141;50 1831 27899 33809 37648)												.	.			0			c.C1445A												103	109	107					5																	140604522		2203	4298	6501	SO:0001583	missense	56122	exon1			CAGGCACCAACGC	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.1445C>A	5.37:g.140604522C>A	ENSP00000239449:p.Thr482Asn		29	0	0		54	0.2	11	NM_018934	7	0.71	5	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	11.60	1.686144	0.29962	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.34	3.45	0.39498	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01661	0.0053	N	0.17631	0.505	0.09310	N	1	P	0.36183	0.542	B	0.38755	0.281	T	0.50101	-0.8867	9	0.44086	T	0.13	.	6.1661	0.20390	0.315:0.5934:0.0:0.0915	.	482	Q9Y5E9	PCDBE_HUMAN	N	329;482	ENSP00000444518:T329N;ENSP00000239449:T482N	ENSP00000239449:T482N	T	+	2	0	PCDHB14	140584706	0.000000	0.05858	0.995000	0.50966	0.921000	0.55340	-1.849000	0.01672	2.157000	0.67596	0.556000	0.70494	ACC			0.647	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251814.2		NM_018934		A	140604522	C	A	140604522	3	1	93	1	0	0	0	0	1	0	0	0	11556	507	18	3	1447	3	PCDHB14	5	140604522	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	9293872	140604522	40310738	21	6543											
TAF7	6879	mdanderson.org	37	chr5	140699046	140699046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgattttctgcctcctttGtttcatcttcggcaattatt	5	21	5	10	1	3	1	1	1	2	0	5	1	4	1	2	1	1	2	2	1	2	8			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr5:140699046G>T	ENST00000313368.5	-	1	1284	c.566C>A	c.(565-567)aCa>aAa	p.T189K		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	189					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|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)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTCCTTTGTTTCATCTTC	0.433																																					p.T189K													.	.			0			c.C566A												112	109	110					5																	140699046		2203	4300	6503	SO:0001583	missense	6879	exon1			TCCTTTGTTTCAT	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.566C>A	5.37:g.140699046G>T	ENSP00000312709:p.Thr189Lys		76	0	0		61	0.07	4	NM_005642	310	0	0	B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204195	0.58234	.	.	ENSG00000178913	ENST00000313368	T	0.22539	1.95	4.86	4.86	0.63082	.	0.120802	0.64402	D	0.000020	T	0.24470	0.0593	M	0.75777	2.31	0.49687	D	0.999819	P	0.35433	0.501	B	0.22386	0.039	T	0.13388	-1.0511	10	0.72032	D	0.01	-13.4635	15.8946	0.79325	0.0:0.0:1.0:0.0	.	189	Q15545	TAF7_HUMAN	K	189	ENSP00000312709:T189K	ENSP00000312709:T189K	T	-	2	0	TAF7	140679230	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.976000	0.88070	2.709000	0.92574	0.655000	0.94253	ACA			0.433	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251823.2		NM_005642		T	140699046	G	T	140699046	3	4	93	1	0	0	0	0	1	0	0	0	15555	1377	48	3	487	3	TAF7	5	140699046	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	94524	140699046	40216214	22	6544											
MAPK9	5601	mdanderson.org	37	chr5	179663447	179663447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtgtctgaggccagCgtctgctcagtggacatgga	6	11	14	10	1	4	1	1	1	3	0	4	3	4	3	1	3	2	1	1	3	0	0	rs114045781		TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr5:179663447C>T	ENST00000452135.2	-	12	1510	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	MAPK9_ENST00000393360.3_3'UTR|MAPK9_ENST00000343111.6_3'UTR|MAPK9_ENST00000455781.1_Silent_p.T404T|MAPK9_ENST00000347470.4_Silent_p.T319T			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	404					cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAGGCCAGCGTCTGCTCAG	0.478													C|||	1	0.000199681	0	0	5008	,	,		21056	0		0.001	False		,,,				2504	0				p.T404T													.	.			0			c.G1212A							C	,,,	0,4406		0,0,2203	116	99	105		1212,,,1212	-4.9	0.9	5	dbSNP_132	105	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,utr-3,utr-3,coding-synonymous	MAPK9	NM_002752.4,NM_139068.2,NM_139069.2,NM_139070.2	,,,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,,,	404/425,,,404/425	179663447	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5601	exon12			GGCCAGCGTCTGC	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.1212G>A	5.37:g.179663447C>T			54	0	0		46	0.07	3	NM_139070	55	0.02	1	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	ENST00000452135.2	37	CCDS4453.1																																																																																			0.001		0.478	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253530.3				T	179663447	C	T	179663447	2	4	93	1	0	0	0	0	0	0	0	1	9303	755	27	1		1	MAPK9	5	179663447	Silent	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	38964401	179663447	1251813	23	6545											
PBX2	5089	mdanderson.org	37	chr6	32157666	32157666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccggcccccgcctggaggGggcggccccagtagccgttc	3	4	15	19	4	0	0	0	0	0	0	1	1	0	1	8	5	1	2	8	5	1	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr6:32157666G>A	ENST00000375050.4	-	1	297	c.27C>T	c.(25-27)ccC>ccT	p.P9P		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	9					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						cgcctggagggggcggccccA	0.766																																					p.P9P													.	.			0			c.C27T												3	5	4					6																	32157666		1001	2063	3064	SO:0001819	synonymous_variant	5089	exon1			TGGAGGGGGCGGC		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.27C>T	6.37:g.32157666G>A			39	0.0256410256	1		60	0.08	5	NM_002586	2	0	0	A2BFJ2	Silent	SNP	ENST00000375050.4	37	CCDS4748.1																																																																																					0.766	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076194.4				A	32157666	G	A	32157666	2	1	93	1	0	0	0	0	0	0	0	1	11510	1219	43	3		3	PBX2	6	32157666	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		32157666	138957401	24	6546											
KLC4	89953	bcgsc.ca;mdanderson.org	37	chr6	43041047	43041047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgaactcttggtgaggaaGctccaggggactgagcctcg	9	8	15	9	1	1	3	0	3	1	0	3	5	2	5	2	4	3	1	2	4	2	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr6:43041047G>T	ENST00000394056.2	+	15	2211	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	KLC4_ENST00000453940.2_Missense_Mutation_p.K495N|KLC4_ENST00000259708.3_Missense_Mutation_p.K590N|PTK7_ENST00000476760.1_5'Flank|PTK7_ENST00000230419.4_5'Flank|KLC4_ENST00000394058.1_Missense_Mutation_p.K572N|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000347162.5_Missense_Mutation_p.K572N|KLC4_ENST00000479388.1_Missense_Mutation_p.K572N			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	572						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TGGTGAGGAAGCTCCAGGGGA	0.577																																					p.K590N													.	KLC4	89		0			c.G1770T												49	50	50					6																	43041047		2203	4300	6503	SO:0001583	missense	89953	exon14			GAGGAAGCTCCAG	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1716G>T	6.37:g.43041047G>T	ENSP00000377620:p.Lys572Asn		66	0	0		58	0.09	5	NM_201523	88	0	0	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520124	0.44866	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.83755	-1.71;-1.76;-1.72;-1.71;-1.71;-1.71	5.81	4.04	0.47022	.	0.088736	0.49305	D	0.000144	T	0.78848	0.4348	M	0.68317	2.08	0.48696	D	0.999694	B;D;D	0.61697	0.012;0.99;0.983	B;P;P	0.57152	0.006;0.814;0.656	T	0.76214	-0.3041	10	0.18710	T	0.47	-13.3572	8.2956	0.31984	0.2423:0.0:0.7577:0.0	.	495;590;572	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	N	572;495;590;572;572;572	ENSP00000340221:K572N;ENSP00000395806:K495N;ENSP00000259708:K590N;ENSP00000418031:K572N;ENSP00000377620:K572N;ENSP00000377622:K572N	ENSP00000259708:K590N	K	+	3	2	KLC4	43149025	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.803000	0.38863	0.807000	0.34208	-0.291000	0.09656	AAG			0.577	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040579.2		NM_138343		T	43041047	G	T	43041047	3	4	93	1	0	0	0	0	1	0	0	0	8351	962	34	2	1893	2	KLC4	6	43041047	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	10883381	43041047	128074020	25	6547											
C6orf58	352999	mdanderson.org	37	chr6	127898393	127898393	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttctgcttccttagcaggGacttccaatctctcagagac	8	14	7	12	0	3	1	1	0	2	1	6	3	5	2	2	1	2	2	2	1	2	5			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr6:127898393G>T	ENST00000329722.7	+	1	75	c.63G>T	c.(61-63)ggG>ggT	p.G21G	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	21						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCTTAGCAGGGACTTCCAATC	0.502																																					p.G21G													.	.			0			c.G63T												131	131	131					6																	127898393		2203	4300	6503	SO:0001819	synonymous_variant	352999	exon1			AGCAGGGACTTCC	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.63G>T	6.37:g.127898393G>T			50	0	0		47	0.09	4	NM_001010905	0		0	B4E1I0|Q5VUP2	Silent	SNP	ENST00000329722.7	37	CCDS34533.1																																																																																					0.502	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042152.1		NM_001010905		T	127898393	G	T	127898393	2	4	93	1	0	0	0	0	0	0	0	1	2369	1161	41	3		3	C6orf58	6	127898393	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	84857346	127898393	43216674	26	6548											
LPA	4018	hgsc.bcm.edu	37	chr6	160978593	160978593	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattcctgcagtagttctCggtcaggccactgcaaattc	8	12	10	11	1	2	0	1	0	1	0	5	1	3	1	2	3	2	4	2	3	2	4			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr6:160978593C>A	ENST00000316300.5	-	29	4686	c.4642G>T	c.(4642-4644)Gag>Tag	p.E1548*	LPA_ENST00000447678.1_Nonsense_Mutation_p.E1548*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4056	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGTAGTTCTCGGTCAGGCCA	0.478																																					p.E1548X													.	.			0			c.G4642T												68	71	70					6																	160978593		2111	4264	6375	SO:0001587	stop_gained	4018	exon30			AGTTCTCGGTCAG	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4642G>T	6.37:g.160978593C>A	ENSP00000321334:p.Glu1548*		73	0	0		89	0.04	4	NM_005577	1	0	0	Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	N	39	7.703949	0.98444	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.55	-3.11	0.05299	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	5.1967	0.15243	0.1924:0.5669:0.0:0.2407	.	.	.	.	X	1548	.	ENSP00000321334:E1548X	E	-	1	0	LPA	160898583	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.450000	0.02390	-0.508000	0.06540	-0.634000	0.03986	GAG			0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042957.1		NM_005577		A	160978593	C	A	160978593	4	1	93	1	0	0	0	0	0	1	0	0	8919	893	31	1	1524	1	LPA	6	160978593	Nonsense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	33080200	160978593	10136474	27	6549											
SP8	221833	broad.mit.edu;mdanderson.org	37	chr7	20824970	20824970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgccgccgccgcCgctgcccccggaaactccgg	3	2	12	24	8	0	0	0	0	0	0	1	1	1	1	10	2	2	1	10	2	1	0			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr7:20824970C>T	ENST00000361443.4	-	3	649	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	SP8_ENST00000418710.2_Missense_Mutation_p.G156S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	138					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ccgccgccgccgctgcccccg	0.761																																					p.G156S													.	SP8	43		0			c.G466A																																									SO:0001583	missense	221833	exon2			CGCCGCCGCTGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.412G>A	7.37:g.20824970C>T	ENSP00000354482:p.Gly138Ser		46	0	0		36	0.08	3	NM_182700	0		0	Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435495	0.12045	.	.	ENSG00000164651	ENST00000418710;ENST00000361443	D;D	0.81821	-1.54;-1.54	3.09	2.16	0.27623	.	0.366549	0.17990	U	0.155235	T	0.58308	0.2113	N	0.08118	0	0.31008	N	0.719562	D;D	0.55605	0.972;0.972	B;B	0.41860	0.368;0.368	T	0.60005	-0.7347	10	0.08837	T	0.75	.	10.7467	0.46185	0.1919:0.8081:0.0:0.0	.	138;138	Q7Z615;Q8IXZ3	.;SP8_HUMAN	S	156;138	ENSP00000408792:G156S;ENSP00000354482:G138S	ENSP00000354482:G138S	G	-	1	0	SP8	20791495	.	.	0.969000	0.41365	0.291000	0.27294	.	.	0.455000	0.26910	0.306000	0.20318	GGC			0.761	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000326904.2				T	20824970	C	T	20824970	3	4	93	1	0	0	0	0	1	0	0	0	14993	652	23	1	1064	1	SP8	7	20824970	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10		20824970	138313693	28	6550											
GTF2IRD1	9569	mdanderson.org	37	chr7	73938405	73938405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgttttgatagagaaGtgggacgccttcataaagga	11	12	12	6	1	1	2	1	1	0	1	2	5	2	4	2	2	0	1	2	2	4	5			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr7:73938405G>T	ENST00000265755.3	+	8	1404	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.K337N|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.K369N|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.K337N	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	337					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						TGATAGAGAAGTGGGACGCCT	0.612																																					p.K369N													.	.			0			c.G1107T												76	57	64					7																	73938405		2203	4300	6503	SO:0001583	missense	9569	exon8			AGAGAAGTGGGAC	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.1011G>T	7.37:g.73938405G>T	ENSP00000265755:p.Lys337Asn		47	0	0		40	0.08	3	NM_001199207	41	0	0	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940105	0.73557	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.49139	0.82;0.8;0.83;0.79	4.63	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	L	0.36672	1.1	0.53688	D	0.99997	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.922;0.991;0.999;0.999	T	0.49579	-0.8925	10	0.48119	T	0.1	-21.3529	7.3271	0.26561	0.3273:0.0:0.6727:0.0	.	369;337;337;337	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	N	337;369;337;337	ENSP00000265755:K337N;ENSP00000397566:K369N;ENSP00000408477:K337N;ENSP00000418383:K337N	ENSP00000265755:K337N	K	+	3	2	GTF2IRD1	73576341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.000000	0.57039	1.069000	0.40788	0.561000	0.74099	AAG			0.612	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252654.2		NM_016328		T	73938405	G	T	73938405	3	4	93	1	0	0	0	0	1	0	0	0	6883	1020	36	3	1037	3	GTF2IRD1	7	73938405	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	53113435	73938405	85200258	29	6551											
FAM200A	221786	mdanderson.org	37	chr7	99144733	99144733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggaaagtaataattaaaaGtttgagacaaagaagtgaga	20	8	10	3	1	0	3	0	2	0	3	0	6	0	4	1	1	0	2	1	1	7	4			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr7:99144733G>T	ENST00000449309.1	-	2	1677	c.1298C>A	c.(1297-1299)aCt>aAt	p.T433N		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	433						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						ataattaaaagtttgagacaa	0.289																																					p.T433N													.	.			0			c.C1298A												10	11	10					7																	99144733		1474	2598	4072	SO:0001583	missense	221786	exon2			TTAAAAGTTTGAG		CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1298C>A	7.37:g.99144733G>T	ENSP00000411372:p.Thr433Asn		43	0	0		27	0.11	3	NM_145111	16	0	0	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280156	0.10458	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.22743	1.94;1.94	1.69	0.761	0.18448	.	0.682102	0.11781	N	0.530186	T	0.11495	0.0280	N	0.22421	0.69	0.21386	N	0.999704	B	0.22851	0.076	B	0.20955	0.032	T	0.31833	-0.9929	10	0.28530	T	0.3	.	4.4112	0.11434	0.2124:0.0:0.7876:0.0	.	433	Q8TCP9	F200A_HUMAN	N	433	ENSP00000411372:T433N;ENSP00000386191:T433N	ENSP00000386191:T433N	T	-	2	0	FAM200A	98982669	0.999000	0.42202	0.819000	0.32651	0.968000	0.65278	0.338000	0.19858	0.254000	0.21573	0.467000	0.42956	ACT			0.289	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345467.1		NM_145111		T	99144733	G	T	99144733	3	4	93	1	0	0	0	0	1	0	0	0	5546	1029	36	3	427	3	FAM200A	7	99144733	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	25206328	99144733	59993930	30	6552											
MLL5	55904	mdanderson.org	37	chr7	104746451	104746451	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacagctgttcccttccagGtagaatttttttttcagagt	8	17	8	8	0	1	3	1	1	0	2	3	3	3	3	2	1	1	3	2	1	2	7			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr7:104746451G>T	ENST00000311117.3	+	19	3141		c.e19+1		KMT2E_ENST00000334877.4_Splice_Site|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334914.7_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)										TCCCTTCCAGGTAGAATTTTT	0.368																																					.													.	.			0			c.2596+1G>T												83	86	85					7																	104746451		2203	4299	6502	SO:0001630	splice_region_variant	55904	exon18			TTCCAGGTAGAAT	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.2596+1G>T	7.37:g.104746451G>T			99	0	0		81	0.05	4	NM_018682	2	0	0	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Splice_Site	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902164	0.72754	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL5	104533687	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	8.930000	0.92872	2.738000	0.93877	0.655000	0.94253	.			0.368	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348697.1			Intron	T	104746451	G	T	104746451	5	4	93	1	0	0	0	0	0	0	1	0	9640	1275	44	3	2663	3	MLL5	7	104746451	Splice_Site	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	5601718	104746451	54392212	31	6553											
ADAM9	8754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	38871495	38871495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccagagaccttttgcCtgaagattttgtggtttata	8	17	8	8	0	1	3	0	1	1	2	2	4	2	3	3	1	1	1	3	1	3	8			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr8:38871495C>G	ENST00000487273.2	+	4	344	c.266C>G	c.(265-267)cCt>cGt	p.P89R	ADAM9_ENST00000481513.1_Missense_Mutation_p.P89R|ADAM9_ENST00000466936.1_Missense_Mutation_p.P89R	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	89				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GACCTTTTGCCTGAAGATTTT	0.348																																					p.P89R													.	.			0			c.C266G												130	135	134					8																	38871495		2203	4300	6503	SO:0001583	missense	8754	exon4			TTTTGCCTGAAGA	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.266C>G	8.37:g.38871495C>G	ENSP00000419446:p.Pro89Arg		60	0	0		90	0.17	15	NM_003816	8	0.13	1	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275211	0.80580	.	.	ENSG00000168615	ENST00000466936;ENST00000481513;ENST00000487273	T;T;T	0.06068	3.35;3.35;3.35	5.58	5.58	0.84498	Peptidase M12B, propeptide (1);	0.097486	0.64402	D	0.000001	T	0.30947	0.0781	M	0.86740	2.835	0.53688	D	0.999973	D;D;D	0.89917	0.986;1.0;0.999	D;D;D	0.87578	0.944;0.998;0.993	T	0.04333	-1.0959	10	0.62326	D	0.03	.	16.7262	0.85422	0.0:1.0:0.0:0.0	.	89;89;89	Q13443;C9J6H5;C9JPM3	ADAM9_HUMAN;.;.	R	89	ENSP00000420257:P89R;ENSP00000417066:P89R;ENSP00000419446:P89R	ENSP00000369249:P89R	P	+	2	0	ADAM9	38990652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.874000	0.56101	2.629000	0.89072	0.655000	0.94253	CCT			0.348	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357291.2				G	38871495	C	G	38871495	3	3	93	1	0	0	0	0	1	0	0	0	253	681	24	5	280	5	ADAM9	8	38871495	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10		38871495	107492527	32	6554											
NSMAF	8439	mdanderson.org	37	chr8	59571855	59571855	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccgggacctgcactgccgGatagctcggcatgcctcggc	5	6	14	16	5	0	0	0	0	0	0	2	2	0	2	4	4	4	3	4	4	1	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr8:59571855G>T	ENST00000038176.3	-	1	272				snoU13_ENST00000459488.1_RNA|NSMAF_ENST00000427130.2_Silent_p.I17I	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						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)				TGCACTGCCGGATAGCTCGGC	0.761																																					p.I17I													NSMAF_ENST00000427130,NS,carcinoma,-1,2	NSMAF_ENST00000427130	-1	2	0			c.C51A												4	7	6					8																	59571855		614	1508	2122	SO:0001627	intron_variant	8439	exon1			CTGCCGGATAGCT	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.59+276C>A	8.37:g.59571855G>T			12	0	0		32	0.09	3	NM_001144772	2	0	0	B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	37	CCDS6173.1																																																																																					0.761	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378384.1		NM_003580		T	59571855	G	T	59571855	1	4	93	0	1	0	0	0	0	0	0	0	10691	1164	41	3		3	NSMAF	8	59571855	Intron	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	20700360	59571855	86792167	33	6555											
GPR172A	79581	mdanderson.org	37	chr8	145584287	145584287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcctctctctgctgggcGtgttctgtgggggctacctg	1	12	16	12	2	3	0	0	0	3	0	4	0	3	0	2	4	2	3	2	4	1	2	rs145502954		TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr8:145584287G>T	ENST00000532887.1	+	4	1622	c.1039G>T	c.(1039-1041)Gtg>Ttg	p.V347L	FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.V347L|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.V259L|SLC52A2_ENST00000530047.1_Missense_Mutation_p.V347L|SLC52A2_ENST00000527078.1_Missense_Mutation_p.V347L|SLC52A2_ENST00000329994.2_Missense_Mutation_p.V347L|SLC52A2_ENST00000526752.1_Intron			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	347					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TCTGCTGGGCGTGTTCTGTGG	0.697																																					p.V347L													.	.			0			c.G1039T												59	67	64					8																	145584287		2203	4300	6503	SO:0001583	missense	79581	exon4			CTGGGCGTGTTCT	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1039G>T	8.37:g.145584287G>T	ENSP00000436768:p.Val347Leu		19	0	0		18	0.11	2	NM_024531	326	0	0	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219312	0.22373	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	4.96	-9.91	0.00458	.	0.694765	0.14438	N	0.319561	T	0.30070	0.0753	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31110	-0.9955	10	0.14656	T	0.56	.	1.9009	0.03267	0.4065:0.089:0.2956:0.2089	.	347	Q9HAB3	RFT3_HUMAN	L	347;347;347;347;347;259	ENSP00000435820:V347L;ENSP00000434728:V347L;ENSP00000385961:V347L;ENSP00000436768:V347L;ENSP00000333638:V347L;ENSP00000440400:V259L	ENSP00000333638:V347L	V	+	1	0	GPR172A	145555095	0.000000	0.05858	0.011000	0.14972	0.236000	0.25371	0.091000	0.15046	-2.949000	0.00294	-1.263000	0.01449	GTG			0.697	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382405.1		NM_024531		T	145584287	G	T	145584287	3	4	93	1	0	0	0	0	1	0	0	0	6683	1145	40	1	1049	1	GPR172A	8	145584287	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	86012432	145584287	779735	34	6556											
INSL6	11172	mdanderson.org	37	chr9	5185598	5185598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacaagcggaggagccgcGgcatccctgtgaccccaggc	8	3	16	14	3	0	1	0	1	0	0	1	4	1	4	4	5	2	1	4	5	1	0	rs142813719	byFrequency	TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr9:5185598G>T	ENST00000381641.3	-	1	70	c.5C>A	c.(4-6)cCg>cAg	p.P2Q		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	2					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GAGGAGCCGCGGCATCCCTGT	0.672																																					p.P2Q													INSL6,NS,carcinoma,+1,1	INSL6	1	1	0			c.C5A												26	23	24					9																	5185598		2201	4300	6501	SO:0001583	missense	11172	exon1			AGCCGCGGCATCC	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.5C>A	9.37:g.5185598G>T	ENSP00000371054:p.Pro2Gln		38	0.0263157895	1		46	0.07	3	NM_007179	0		0	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547634	0.45383	.	.	ENSG00000120210	ENST00000381641	T	0.68025	-0.3	4.25	-1.2	0.09554	.	0.926036	0.09058	N	0.854732	T	0.64011	0.2560	M	0.73962	2.25	0.09310	N	1	P	0.38167	0.621	B	0.42882	0.401	T	0.58994	-0.7537	10	0.87932	D	0	7.3565	1.1157	0.01714	0.1837:0.1403:0.3909:0.2851	.	2	Q9Y581	INSL6_HUMAN	Q	2	ENSP00000371054:P2Q	ENSP00000371054:P2Q	P	-	2	0	INSL6	5175598	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	-0.506000	0.06359	-0.213000	0.10094	-0.201000	0.12746	CCG			0.672	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051608.3		NM_007179		T	5185598	G	T	5185598	3	4	93	1	0	0	0	0	1	0	0	0	7785	1116	39	1	644	1	INSL6	9	5185598	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		5185598	136027833	35	6557											
NFX1	4799	bcgsc.ca;mdanderson.org	37	chr9	33307243	33307243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaattccacatagctgtgGtgaggtttgtagaaagaaac	14	11	11	5	0	0	4	0	2	0	2	1	4	1	4	1	2	2	3	1	2	5	4			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr9:33307243G>T	ENST00000379540.3	+	5	1384	c.1322G>T	c.(1321-1323)gGt>gTt	p.G441V	NFX1_ENST00000379521.4_Missense_Mutation_p.G441V|NFX1_ENST00000318524.6_Missense_Mutation_p.G441V	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	441					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)		CATAGCTGTGGTGAGGTTTGT	0.443																																					p.G441V													.	NFX1	85		0			c.G1322T												167	162	164					9																	33307243		2203	4300	6503	SO:0001583	missense	4799	exon5			GCTGTGGTGAGGT	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.1322G>T	9.37:g.33307243G>T	ENSP00000368856:p.Gly441Val		75	0	0		89	0.06	5	NM_147134	10	0	0	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723654	0.89298	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.55413	0.52;0.52;0.52	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81148	0.4762	H	0.95780	3.72	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;0.996;1.0;0.998	D	0.86675	0.1913	10	0.87932	D	0	-7.1113	16.8219	0.85748	0.0:0.0:1.0:0.0	.	441;325;441;441;441	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	V	441	ENSP00000368856:G441V;ENSP00000368836:G441V;ENSP00000317695:G441V	ENSP00000317695:G441V	G	+	2	0	NFX1	33297243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.507000	0.97996	2.588000	0.87417	0.585000	0.79938	GGT			0.443	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052069.1				T	33307243	G	T	33307243	3	4	93	1	0	0	0	0	1	0	0	0	10404	1261	44	3	1340	3	NFX1	9	33307243	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	28121645	33307243	107906188	36	6558											
GAS1	2619	mdanderson.org	37	chr9	89561083	89561083	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtcctcaatgacggtGcggcattcgtccgtgcagcg	7	9	13	12	5	1	1	1	1	0	0	4	1	3	1	2	2	4	3	2	2	1	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr9:89561083G>T	ENST00000298743.7	-	1	1021	c.612C>A	c.(610-612)cgC>cgA	p.R204R	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	204					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						CAATGACGGTGCGGCATTCGT	0.662																																					p.R204R													.	.			0			c.C612A												24	22	23					9																	89561083		2202	4298	6500	SO:0001819	synonymous_variant	2619	exon1			GACGGTGCGGCAT		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.612C>A	9.37:g.89561083G>T			30	0	0		30	0.1	3	NM_002048	11	0	0	B9EGM4|Q6B086	Silent	SNP	ENST00000298743.7	37	CCDS6674.1																																																																																					0.662	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052928.1		NM_002048		T	89561083	G	T	89561083	2	4	93	1	0	0	0	0	0	0	0	1	6258	1306	46	2		2	GAS1	9	89561083	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	56253840	89561083	51652348	37	6559											
SARDH	1757	ucsc.edu;bcgsc.ca	37	chr9	136594903	136594903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgaatcccctcgatgCgctcggtgacgacataggca	9	8	10	14	4	0	2	0	2	0	0	3	4	1	2	3	2	2	2	3	2	3	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr9:136594903C>T	ENST00000371872.4	-	6	1156	c.899G>A	c.(898-900)cGc>cAc	p.R300H	SARDH_ENST00000422262.2_Missense_Mutation_p.R132H|SARDH_ENST00000439388.1_Missense_Mutation_p.R300H|SARDH_ENST00000371867.1_Missense_Mutation_p.R211H|SARDH_ENST00000298628.5_Missense_Mutation_p.R300H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	300					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)		CCCCTCGATGCGCTCGGTGAC	0.632																																					p.R300H													SARDH,NS,carcinoma,-1,1	SARDH	112	1	0			c.G899A												101	84	89					9																	136594903		2203	4300	6503	SO:0001583	missense	1757	exon6			TCGATGCGCTCGG		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.899G>A	9.37:g.136594903C>T	ENSP00000360938:p.Arg300His		29	0	0		20	0.2	4	NM_007101	4	0	0	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807389	0.90623	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.02	5.02	0.67125	FAD dependent oxidoreductase (1);	0.056428	0.64402	D	0.000003	D	0.90349	0.6980	M	0.84948	2.725	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	D	0.90979	0.4826	10	0.48119	T	0.1	-36.4375	18.3365	0.90290	0.0:1.0:0.0:0.0	.	300	Q9UL12	SARDH_HUMAN	H	300;300;132;300;300;300;211;278;300	ENSP00000360938:R300H;ENSP00000403084:R300H;ENSP00000415537:R132H;ENSP00000360933:R211H;ENSP00000298628:R300H	ENSP00000298628:R300H	R	-	2	0	SARDH	135584724	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	7.244000	0.78228	2.319000	0.78375	0.467000	0.42956	CGC			0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054931.1				T	136594903	C	T	136594903	3	4	93	1	0	0	0	0	1	0	0	0	13864	768	27	1	1921	1	SARDH	9	136594903	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	47033820	136594903	4618528	38	6560											
RBM17	84991	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	6157491	6157491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacaatttggacaaattcaGggtcttggatttggcagaac	12	12	10	7	0	2	1	1	0	1	1	2	3	2	3	0	4	2	1	0	4	4	5			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr10:6157491G>A	ENST00000446108.1	+	12	1822	c.1178G>A	c.(1177-1179)aGg>aAg	p.R393K	RBM17_ENST00000379888.4_Missense_Mutation_p.R393K|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	393					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)	p.R393T(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GACAAATTCAGGGTCTTGGAT	0.408																																					p.R393K													RBM17,NS,carcinoma,0,1	RBM17	0	1	2	Substitution - Missense(2)	lung(2)	c.G1178A												167	164	165					10																	6157491		2203	4300	6503	SO:0001583	missense	84991	exon12			AATTCAGGGTCTT	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.1178G>A	10.37:g.6157491G>A	ENSP00000388638:p.Arg393Lys		45	0	0		50	0.2	10	NM_001145547	384	0.49	189	Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141150	0.37825	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	L	0.33753	1.03	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.47018	-0.9149	9	0.13853	T	0.58	-18.7954	18.8842	0.92368	0.0:0.0:1.0:0.0	.	393	Q96I25	SPF45_HUMAN	K	393	.	ENSP00000369218:R393K	R	+	2	0	RBM17	6197497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.967000	0.93402	2.518000	0.84900	0.655000	0.94253	AGG			0.408	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046635.1		NM_032905		A	6157491	G	A	6157491	3	1	93	1	0	0	0	0	1	0	0	0	13142	1000	35	3	1220	3	RBM17	10	6157491	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		6157491	129377256	39	6561											
DCLRE1C	64421	mdanderson.org	37	chr10	14951005	14951005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgatttcatcatttcttTtaaagaatacttcccactgg	10	17	5	9	0	3	2	2	1	1	1	4	2	4	2	1	1	1	0	1	1	4	6			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr10:14951005T>C	ENST00000378278.2	-	14	1518	c.1481A>G	c.(1480-1482)aAa>aGa	p.K494R	DCLRE1C_ENST00000453695.2_Missense_Mutation_p.K374R|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.K374R|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.K379R|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.K147R|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.K374R|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.K374R|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.K379R|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.K379R|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.K374R			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	494					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						ATCATTTCTTTTAAAGAATAC	0.468								Non-homologous end-joining																													p.K494R													.	.			0			c.A1481G												55	54	55					10																	14951005		2203	4300	6503	SO:0001583	missense	64421	exon14			TTTCTTTTAAAGA	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.1481A>G	10.37:g.14951005T>C	ENSP00000367527:p.Lys494Arg		53	0	0		50	0.06	3	NM_001033855	5	0	0	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782346	0.49891	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.76	5.76	0.90799	.	0.200417	0.52532	D	0.000078	T	0.27594	0.0678	M	0.74881	2.28	0.36469	D	0.867132	B;B	0.31153	0.181;0.31	B;B	0.30943	0.122;0.057	T	0.40572	-0.9556	10	0.54805	T	0.06	.	5.7775	0.18287	0.0:0.1394:0.1464:0.7141	.	379;494	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	R	374;379;379;379;374;374;374;494;374;147	ENSP00000400529:K374R;ENSP00000367492:K379R;ENSP00000350349:K379R;ENSP00000367496:K379R;ENSP00000380030:K374R;ENSP00000367503:K374R;ENSP00000367502:K374R;ENSP00000367527:K494R;ENSP00000367506:K374R;ENSP00000367488:K147R	ENSP00000350349:K379R	K	-	2	0	DCLRE1C	14991011	0.992000	0.36948	1.000000	0.80357	0.987000	0.75469	1.040000	0.30278	2.186000	0.69663	0.533000	0.62120	AAA			0.468	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046934.1		NM_022487		C	14951005	T	C	14951005	3	2	93	1	0	0	0	0	1	0	0	0	4298	1841	64	4	601	4	DCLRE1C	10	14951005	Missense_Mutation	SNP	T	TCGA-SN-A84X-01A-11D-A435-10	8793514	14951005	120583742	40	6562											
DEAF1	10522	mdanderson.org	37	chr11	674705	674705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcggctctgacagctccAgcccattgaccaacgcggga	8	6	11	16	4	1	2	0	2	1	0	3	3	3	3	4	2	3	2	4	2	1	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr11:674705A>G	ENST00000382409.3	-	10	1818	c.1334T>C	c.(1333-1335)cTg>cCg	p.L445P	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.L356P|RP11-754B17.1_ENST00000527799.1_RNA	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	445	Interaction with LMO4. {ECO:0000250}.				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)		TGACAGCTCCAGCCCATTGAC	0.587																																					p.L445P													.	.			0			c.T1334C												69	73	72					11																	674705		2203	4300	6503	SO:0001583	missense	10522	exon10			AGCTCCAGCCCAT	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.1334T>C	11.37:g.674705A>G	ENSP00000371846:p.Leu445Pro		56	0	0		38	0.08	3	NM_021008	164	0	0	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527987	0.44969	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.70631	-0.5	3.85	3.85	0.44370	.	0.000000	0.56097	D	0.000024	T	0.73953	0.3653	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.77013	-0.2745	10	0.87932	D	0	-20.209	12.0758	0.53643	1.0:0.0:0.0:0.0	.	445	O75398	DEAF1_HUMAN	P	445;356;431;368	ENSP00000371846:L445P	ENSP00000341902:L356P	L	-	2	0	DEAF1	664705	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	7.950000	0.87804	1.754000	0.51921	0.459000	0.35465	CTG			0.587	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383614.3		NM_021008		G	674705	A	G	674705	3	3	93	1	0	0	0	0	1	0	0	0	4382	188	7	4	375	4	DEAF1	11	674705	Missense_Mutation	SNP	A	TCGA-SN-A84X-01A-11D-A435-10		674705	134331811	41	6563											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	1261503	1261503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttgatcgccatctgcGgaagcaacggcaccatcatc	9	8	9	15	3	2	1	1	1	1	0	4	2	2	2	3	2	4	3	3	2	2	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr11:1261503G>A	ENST00000529681.1	+	30	3926	c.3868G>A	c.(3868-3870)Gga>Aga	p.G1290R	MUC5B_ENST00000447027.1_Missense_Mutation_p.G1293R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1290					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)		CGCCATCTGCGGAAGCAACGG	0.607																																					p.G1290R													MUC5B,NS,carcinoma,0,2	MUC5B	0	2	0			c.G3868A												77	88	84					11																	1261503		2145	4252	6397	SO:0001583	missense	727897	exon30			ATCTGCGGAAGCA	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.3868G>A	11.37:g.1261503G>A	ENSP00000436812:p.Gly1290Arg		59	0	0		66	0.27	18	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685576	0.29962	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16897	2.31;2.51	4.77	1.68	0.24146	.	.	.	.	.	T	0.10594	0.0259	L	0.38175	1.15	0.09310	N	1	P;P	0.47910	0.902;0.801	B;B	0.32677	0.15;0.08	T	0.17592	-1.0364	9	0.87932	D	0	.	7.8783	0.29608	0.3538:0.0:0.6462:0.0	.	1983;1293	A7Y9J9;E9PBJ0	.;.	R	1290;1293;1291;1360	ENSP00000436812:G1290R;ENSP00000415793:G1293R	ENSP00000343037:G1291R	G	+	1	0	MUC5B	1218079	0.001000	0.12720	0.008000	0.14137	0.031000	0.12232	0.955000	0.29188	0.390000	0.25115	0.462000	0.41574	GGA			0.607	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093		A	1261503	G	A	1261503	3	1	93	1	0	0	0	0	1	0	0	0	9995	1117	39	1	3995	1	MUC5B	11	1261503	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	586798	1261503	133745013	42	6564											
AMBRA1	55626	mdanderson.org	37	chr11	46563785	46563785	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagaggaactagcctcGccagaggagtagttaggtgt	11	8	14	8	1	0	2	0	0	0	2	1	4	0	4	3	3	3	2	3	3	5	3	rs375558035		TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr11:46563785G>T	ENST00000458649.2	-	7	2200	c.1782C>A	c.(1780-1782)ggC>ggA	p.G594G	AMBRA1_ENST00000533727.1_Silent_p.G504G|AMBRA1_ENST00000426438.1_Silent_p.G594G|AMBRA1_ENST00000314845.3_Silent_p.G504G|AMBRA1_ENST00000298834.3_Silent_p.G594G|AMBRA1_ENST00000534300.1_Silent_p.G594G|AMBRA1_ENST00000528950.1_Silent_p.G594G			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	594	Ser-rich.				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)		AACTAGCCTCGCCAGAGGAGT	0.587																																					p.G504G													.	.			0			c.C1512A												64	54	57					11																	46563785		2201	4299	6500	SO:0001819	synonymous_variant	55626	exon8			AGCCTCGCCAGAG	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.1782C>A	11.37:g.46563785G>T			47	0	0		36	0.08	3	NM_017749	6	0	0	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37																																																																																						0.587	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000390103.1		NM_017749		T	46563785	G	T	46563785	2	4	93	1	0	0	0	0	0	0	0	1	565	1074	38	1		1	AMBRA1	11	46563785	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	45302282	46563785	88442731	43	6565											
TCN1	6947	mdanderson.org	37	chr11	59633919	59633919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtaagagccccactaGgggcagctggtgtgactgtc	11	7	13	10	0	0	2	0	1	0	1	1	2	0	2	2	3	3	3	2	3	3	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr11:59633919G>T	ENST00000257264.3	-	1	129	c.25C>A	c.(25-27)Cta>Ata	p.L9I	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	9					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)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCCCACTAGGGGCAGCTGG	0.423																																					p.L9I													.	.			0			c.C25A												97	108	104					11																	59633919		2201	4295	6496	SO:0001583	missense	6947	exon1			CCACTAGGGGCAG	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.25C>A	11.37:g.59633919G>T	ENSP00000257264:p.Leu9Ile		52	0	0		47	0.06	3	NM_001062	26	0	0	A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	6.370	0.436434	0.12104	.	.	ENSG00000134827	ENST00000257264	T	0.53640	0.61	4.95	2.91	0.33838	.	0.343884	0.20786	N	0.085708	T	0.60117	0.2244	M	0.70595	2.14	0.21256	N	0.999748	D	0.65815	0.995	D	0.67231	0.95	T	0.51220	-0.8733	10	0.87932	D	0	.	4.9987	0.14253	0.3516:0.0:0.6484:0.0	.	9	P20061	TCO1_HUMAN	I	9	ENSP00000257264:L9I	ENSP00000257264:L9I	L	-	1	2	TCN1	59390495	0.992000	0.36948	0.190000	0.23270	0.159000	0.22180	0.856000	0.27818	0.452000	0.26830	-0.291000	0.09656	CTA			0.423	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394503.1		NM_001062		T	59633919	G	T	59633919	3	4	93	1	0	0	0	0	1	0	0	0	15729	991	35	3	1312	3	TCN1	11	59633919	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	13070134	59633919	75372597	44	6566											
ASRGL1	80150	mdanderson.org	37	chr11	62156700	62156700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttaataaaatggtcggccGcgttggggactcaccgtgtc	8	10	13	10	5	1	0	1	0	0	0	3	1	1	1	2	4	0	2	2	4	3	3	rs144391767		TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr11:62156700G>T	ENST00000415229.2	+	5	802	c.587G>T	c.(586-588)cGc>cTc	p.R196L	ASRGL1_ENST00000535727.1_Missense_Mutation_p.R68L|CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.R196L	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	196	Substrate binding.				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)	ATGGTCGGCCGCGTTGGGGAC	0.582																																					p.R196L													.	.			0			c.G587T												96	91	93					11																	62156700		2202	4299	6501	SO:0001583	missense	80150	exon5			TCGGCCGCGTTGG		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.587G>T	11.37:g.62156700G>T	ENSP00000400057:p.Arg196Leu		23	0	0		33	0.09	3	NM_001083926	51	0	0	B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.213820	0.79352	.	.	ENSG00000162174	ENST00000415229;ENST00000535727;ENST00000301776	D;D;D	0.95656	-3.77;-3.77;-3.77	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.98972	0.9650	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98936	1.0789	10	0.87932	D	0	-9.7698	16.2454	0.82441	0.0:0.0:1.0:0.0	.	196	Q7L266	ASGL1_HUMAN	L	196;68;196	ENSP00000400057:R196L;ENSP00000443284:R68L;ENSP00000301776:R196L	ENSP00000301776:R196L	R	+	2	0	ASRGL1	61913276	1.000000	0.71417	0.995000	0.50966	0.261000	0.26267	8.339000	0.90041	2.423000	0.82170	0.561000	0.74099	CGC			0.582	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394865.1		NM_001083926		T	62156700	G	T	62156700	3	4	93	1	0	0	0	0	1	0	0	0	1060	1087	38	1	601	1	ASRGL1	11	62156700	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	2522781	62156700	72849816	45	6567											
LRP5	4041	mdanderson.org	37	chr11	68115709	68115709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgccttggaccccgctcaCgggtaaaccctgctgcgact	7	8	10	16	4	1	0	1	0	0	0	2	2	1	1	4	2	3	3	4	2	2	2	rs191882942	byFrequency	TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr11:68115709C>T	ENST00000294304.7	+	2	592	c.486C>T	c.(484-486)caC>caT	p.H162H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	162	Beta-propeller 1.				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						ACCCCGCTCACGGGTAAACCC	0.597													C|||	5	0.000998403	0	0.0058	5008	,	,		17781	0.001		0	False		,,,				2504	0				p.H162H													.	.			0			c.C486T												45	49	48					11																	68115709		2200	4293	6493	SO:0001819	synonymous_variant	4041	exon2			CGCTCACGGGTAA	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.486C>T	11.37:g.68115709C>T			16	0	0		11	0.18	2	NM_002335	16	0	0	Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	CCDS8181.1																																																																																			0.001		0.597	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395088.1		NM_002335		T	68115709	C	T	68115709	2	4	93	1	0	0	0	0	0	0	0	1	8976	535	19	1		1	LRP5	11	68115709	Silent	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	5959009	68115709	66890807	46	6568											
NACA	4666	broad.mit.edu	37	chr12	57112396	57112396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtagctggacctccttttGgggagggaggagttgcagct	7	10	17	7	0	0	0	0	0	0	0	1	5	1	4	2	5	3	5	2	5	1	4			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr12:57112396G>A	ENST00000454682.1	-	3	3199	c.2918C>T	c.(2917-2919)cCa>cTa	p.P973L	NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	973	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACCTCCTTTTGGGGAGGGAGG	0.652			T	BCL6	NHL																																.				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA	131		0			.												35	43	40					12																	57112396		1364	3140	4504	SO:0001583	missense	4666	.			CCTTTTGGGGAGG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2918C>T	12.37:g.57112396G>A	ENSP00000403817:p.Pro973Leu		34	0	0		57	0.12	7	.	0		0		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	g	4.142	0.024795	0.08054	.	.	ENSG00000196531	ENST00000454682	T	0.49720	0.77	2.61	0.515	0.17013	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.19614	-1.0300	7	.	.	.	.	5.3013	0.15780	0.224:0.1697:0.6064:0.0	.	973	E9PAV3	.	L	973	ENSP00000403817:P973L	.	P	-	2	0	NACA	55398663	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.249000	0.08842	-0.025000	0.13918	-1.341000	0.01249	CCA			0.652	NACA-201	KNOWN	basic	protein_coding	protein_coding				NM_005594		A	57112396	G	A	57112396	3	1	93	1	0	0	0	0	1	0	0	0	10149	1348	47	3	3346	3	NACA	12	57112396	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		57112396	76739499	47	6569											
TMCC3	57458	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	94976045	94976045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgatttctgattcttcttCtcaaagacttgcttgatacg	8	17	7	9	1	4	4	1	3	4	1	5	4	4	4	0	0	2	2	0	0	2	7			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr12:94976045C>T	ENST00000261226.4	-	2	479	c.348G>A	c.(346-348)gaG>gaA	p.E116E	TMCC3_ENST00000551457.1_Silent_p.E85E	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	116						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GATTCTTCTTCTCAAAGACTT	0.478																																					p.E116E													.	.			0			c.G348A												121	110	114					12																	94976045		2203	4300	6503	SO:0001819	synonymous_variant	57458	exon2			CTTCTTCTCAAAG	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.348G>A	12.37:g.94976045C>T			67	0	0		114	0.18	21	NM_020698	2	0	0	Q8IWB2	Silent	SNP	ENST00000261226.4	37	CCDS31877.1																																																																																					0.478	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408113.1		NM_020698		T	94976045	C	T	94976045	2	4	93	1	0	0	0	0	0	0	0	1	16017	912	32	3		3	TMCC3	12	94976045	Silent	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	37863649	94976045	38875850	48	6570											
SLC5A8	160728	mdanderson.org	37	chr12	101603481	101603481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcactgcggtcattctgcggCcgcccatcaggaagtccttg	6	9	12	14	3	3	0	2	0	1	0	4	1	4	1	3	3	2	1	3	3	1	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr12:101603481C>T	ENST00000536262.2	-	1	704	c.146G>A	c.(145-147)gGc>gAc	p.G49D		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATTCTGCGGCCGCCCATCAG	0.657																																					p.G49D	GBM(60;420 1056 13605 22380 47675)												.	.			0			c.G146A												47	43	44					12																	101603481		2203	4300	6503	SO:0001583	missense	160728	exon1			CTGCGGCCGCCCA	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.146G>A	12.37:g.101603481C>T	ENSP00000445340:p.Gly49Asp		39	0	0		33	0.09	3	NM_145913	0		0		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050997	0.93740	.	.	ENSG00000256870	ENST00000536262	D	0.91894	-2.93	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93036	0.6453	10	0.32370	T	0.25	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	49	Q8N695	SC5A8_HUMAN	D	49	ENSP00000445340:G49D	ENSP00000445340:G49D	G	-	2	0	SLC5A8	100127612	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.818000	0.86416	2.698000	0.92095	0.561000	0.74099	GGC			0.657	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000409401.1		NM_145913		T	101603481	C	T	101603481	3	4	93	1	0	0	0	0	1	0	0	0	14694	739	26	2	1746	2	SLC5A8	12	101603481	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	6627436	101603481	32248414	49	6571											
ATP12A	479	mdanderson.org	37	chr13	25283966	25283966	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacagctatgggcaggaatgGgtgagtggcgggagccctgc	8	6	19	8	1	0	1	0	1	0	0	0	4	0	3	1	5	3	2	1	5	2	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr13:25283966G>T	ENST00000381946.3	+	19	2930	c.2763G>T	c.(2761-2763)tgG>tgT	p.W921C	ATP12A_ENST00000218548.6_Splice_Site_p.W927C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	921					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)		GGCAGGAATGGGTGAGTGGCG	0.542																																					p.W927C	Pancreas(156;1582 1935 18898 22665 26498)												.	.			0			c.G2781T												91	89	90					13																	25283966		2203	4300	6503	SO:0001630	splice_region_variant	479	exon19			GGAATGGGTGAGT	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.2763+1G>T	13.37:g.25283966G>T			31	0	0		38	0.08	3	NM_001185085	286	0	0	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098501	0.56183	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.88431	-2.38;-2.38	6.03	6.03	0.97812	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.94132	0.8118	M	0.87971	2.92	0.80722	D	1	P;P	0.50528	0.936;0.697	P;P	0.55112	0.769;0.517	D	0.94506	0.7714	10	0.87932	D	0	.	18.0604	0.89375	0.0:0.0:1.0:0.0	.	927;921	P54707-2;P54707	.;AT12A_HUMAN	C	927;921	ENSP00000218548:W927C;ENSP00000371372:W921C	ENSP00000218548:W927C	W	+	3	0	ATP12A	24181966	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	9.751000	0.98889	2.854000	0.98071	0.655000	0.94253	TGG			0.542	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044199.1		NM_001676	Missense_Mutation	T	25283966	G	T	25283966	5	4	93	1	0	0	0	0	0	0	1	0	1122	1246	43	3	2855	3	ATP12A	13	25283966	Splice_Site	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		25283966	89885912	50	6572											
ZBTB1	22890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	64989758	64989758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaatgctggatgattttagGgacaatcattaccagataaa	16	11	9	5	0	1	2	1	1	0	1	1	5	1	4	1	2	2	1	1	2	6	4			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr14:64989758G>A	ENST00000554015.1	+	4	1967	c.1536G>A	c.(1534-1536)agG>agA	p.R512R	ZBTB1_ENST00000394712.2_Silent_p.R512R|ZBTB1_ENST00000358738.3_Silent_p.R512R|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	512					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		ATGATTTTAGGGACAATCATT	0.383																																					p.R512R													.	.			0			c.G1536A												130	132	131					14																	64989758		2203	4300	6503	SO:0001819	synonymous_variant	22890	exon2			TTTTAGGGACAAT	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1536G>A	14.37:g.64989758G>A			67	0	0		68	0.37	25	NM_014950	21	0.38	8	A8K6S8|Q86SW8	Silent	SNP	ENST00000554015.1	37	CCDS45126.1																																																																																					0.383	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411912.1				A	64989758	G	A	64989758	2	1	93	1	0	0	0	0	0	0	0	1	17545	1223	43	3		3	ZBTB1	14	64989758	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		64989758	42359782	51	6573											
GPR68	8111	broad.mit.edu	37	chr14	91701361	91701363	+	In_Frame_Del	DEL	TCA	TCA	-																															ggtatggtcgatggtacagcTcatcgaggagttgtctgcag																										TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	TCA	TCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr14:91701361_91701363delTCA	ENST00000531499.2	-	2	371_373	c.32_34delTGA	c.(31-36)atgagc>agc	p.M11del	GPR68_ENST00000535815.1_In_Frame_Del_p.M11del|GPR68_ENST00000238699.3_In_Frame_Del_p.M21del|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	11					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		ATGGTACAGCTCATCGAGGAGTT	0.606																																					p.11_12del													.	GPR68	32		0			c.32_34del																																									SO:0001651	inframe_deletion	0	exon2			TACAGCTCATCGA	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.32_34delTGA	14.37:g.91701361_91701363delTCA	ENSP00000434045:p.Met11del		75	0	0		100	0.09	9	NM_001177676	9	0	0	Q13334|Q4VBB4|Q6IX34	In_Frame_Del	DEL	ENST00000531499.2	37	CCDS9894.2																																																																																					0.606	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395245.2				-	91701363	TCA	-	91701361	7	5	93	1	0	1	0	1	0	0	0	0	6721	1551	54	0	1067	0	GPR68	14	91701361	In_Frame_Del	DEL	TCA	TCGA-SN-A84X-01A-11D-A435-10	26711603	91701361	15648179	52	6574											
C14orf68	283600	mdanderson.org	37	chr14	100789780	100789780	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcgctggagccatcggagGtaacagacaggatggtgggc	9	7	17	8	2	0	1	0	0	0	1	2	4	0	4	1	6	2	2	1	6	1	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr14:100789780G>T	ENST00000361529.3	+	1	106		c.e1+1		AL157871.1_ENST00000583404.1_RNA|SLC25A47_ENST00000557052.1_Splice_Site	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GCCATCGGAGGTAACAGACAG	0.622																																					.	GBM(11;1289 1351)												.	.			0			c.28+1G>T												79	68	72					14																	100789780		2203	4300	6503	SO:0001630	splice_region_variant	283600	exon1			TCGGAGGTAACAG		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.28+1G>T	14.37:g.100789780G>T			37	0	0		35	0.09	3	NM_207117	0		0	B2RP39|Q68CL2|Q6PZD8|Q86U14	Splice_Site	SNP	ENST00000361529.3	37	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679593	0.47886	.	.	ENSG00000140107	ENST00000361529	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9781	0.64285	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A47	99859533	1.000000	0.71417	0.995000	0.50966	0.626000	0.37791	4.423000	0.59861	2.389000	0.81357	0.655000	0.94253	.			0.622	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414231.1			Intron	T	100789780	G	T	100789780	5	4	93	1	0	0	0	0	0	0	1	0	1780	1275	44	3	31	3	C14orf68	14	100789780	Splice_Site	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	9088419	100789780	6559760	53	6575											
RYR3	6263	mdanderson.org	37	chr15	34145883	34145883	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggcttctctggtgtcatGgtacaaaaagcttaggagtt	10	12	12	7	1	2	0	1	0	1	0	3	1	2	1	0	4	3	4	0	4	4	4			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr15:34145883G>T	ENST00000389232.4	+	96	13869	c.13799G>T	c.(13798-13800)tGg>tTg	p.W4600L	RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Splice_Site_p.W4595L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4600					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)		CTGGTGTCATGGTACAAAAAG	0.428																																					p.W4600L													RYR3,NS,carcinoma,+1,1	RYR3	1	1	0			c.G13799T												66	64	65					15																	34145883		1849	4091	5940	SO:0001630	splice_region_variant	6263	exon96			TGTCATGGTACAA		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.13799+1G>T	15.37:g.34145883G>T			48	0	0		48	0.06	3	NM_001036	0		0	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034388	0.54896	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.91180	-2.8	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	L	0.35644	1.08	0.58432	D	0.999992	D;D	0.56521	0.964;0.976	D;P	0.66084	0.941;0.893	D	0.91477	0.5201	10	0.37606	T	0.19	.	18.2221	0.89905	0.0:0.0:1.0:0.0	.	4595;4600	Q15413-2;Q15413	.;RYR3_HUMAN	L	4600;4596	ENSP00000373884:W4600L	ENSP00000354735:W4596L	W	+	2	0	RYR3	31933175	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	7.654000	0.83653	2.609000	0.88269	0.655000	0.94253	TGG			0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000417514.1			Missense_Mutation	T	34145883	G	T	34145883	5	4	93	1	0	0	0	0	0	0	1	0	13793	1362	47	3	14181	3	RYR3	15	34145883	Splice_Site	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		34145883	68385509	54	6576											
CASC5	57082	mdanderson.org	37	chr15	40911197	40911197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcccattcatacccagatGcaacagaaggaggtatgagt	13	8	10	10	0	1	3	1	1	0	2	2	4	2	4	2	2	3	3	2	2	4	3			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr15:40911197G>T	ENST00000346991.5	+	10	831	c.441G>T	c.(439-441)atG>atT	p.M147I	CASC5_ENST00000399668.2_Missense_Mutation_p.M121I|CASC5_ENST00000527044.1_Intron			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	147	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)		ATACCCAGATGCAACAGAAGG	0.333																																					p.M147I													.	.			0			c.G441T												180	170	173					15																	40911197		1875	4098	5973	SO:0001583	missense	57082	exon10			CCAGATGCAACAG	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.441G>T	15.37:g.40911197G>T	ENSP00000335463:p.Met147Ile		44	0	0		32	0.09	3	NM_170589	0		0	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094956	0.56075	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.44083	0.93;0.93	4.78	3.87	0.44632	.	0.584119	0.17365	N	0.176881	T	0.35799	0.0944	L	0.48642	1.525	0.28879	N	0.894534	B;B;B	0.28933	0.228;0.228;0.008	B;B;B	0.26969	0.075;0.075;0.007	T	0.31336	-0.9947	10	0.46703	T	0.11	.	11.5064	0.50468	0.0828:0.0:0.9172:0.0	.	121;147;121	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	I	147;121;121	ENSP00000335463:M147I;ENSP00000382576:M121I	ENSP00000260369:M121I	M	+	3	0	CASC5	38698489	0.974000	0.33945	1.000000	0.80357	0.871000	0.50021	0.606000	0.24194	1.384000	0.46424	0.557000	0.71058	ATG			0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390224.2		NM_144508		T	40911197	G	T	40911197	3	4	93	1	0	0	0	0	1	0	0	0	2665	1319	46	2	475	2	CASC5	15	40911197	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	6765314	40911197	61620195	55	6577											
HEXA	3073	mdanderson.org	37	chr15	72643501	72643501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagctctggaaaagtgaaGctctcatatgggaaggaagg	14	8	14	5	0	2	2	1	2	2	0	3	5	2	5	0	4	2	2	0	4	6	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr15:72643501G>T	ENST00000268097.5	-	6	1148	c.645C>A	c.(643-645)agC>agA	p.S215R	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.S42R|HEXA_ENST00000457859.2_Missense_Mutation_p.S23R|HEXA_ENST00000567159.1_Missense_Mutation_p.S215R|HEXA_ENST00000566304.1_Missense_Mutation_p.S226R|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	215					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						GAAAAGTGAAGCTCTCATATG	0.458																																					p.S215R													.	.			0			c.C645A												167	134	145					15																	72643501		2199	4297	6496	SO:0001583	missense	3073	exon6			AGTGAAGCTCTCA	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.645C>A	15.37:g.72643501G>T	ENSP00000268097:p.Ser215Arg		59	0	0		45	0.07	3	NM_000520	108	0	0	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718420	0.68844	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.95821	-3.82;-3.82;-3.82	5.78	1.33	0.21861	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	H	0.98446	4.235	0.42390	D	0.992527	D;D;D;D;D	0.89917	1.0;0.987;1.0;0.997;1.0	D;D;D;D;D	0.74674	0.984;0.968;0.984;0.974;0.984	D	0.97346	0.9960	10	0.62326	D	0.03	-25.3838	9.8946	0.41311	0.4648:0.0:0.5352:0.0	.	42;226;42;95;215	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	R	215;23;42	ENSP00000268097:S215R;ENSP00000398026:S23R;ENSP00000416187:S42R	ENSP00000268097:S215R	S	-	3	2	HEXA	70430555	0.996000	0.38824	0.579000	0.28588	0.998000	0.95712	2.393000	0.44442	0.362000	0.24319	0.655000	0.94253	AGC			0.458	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257317.2		NM_000520		T	72643501	G	T	72643501	3	4	93	1	0	0	0	0	1	0	0	0	7088	962	34	2	980	2	HEXA	15	72643501	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	31732304	72643501	29887891	56	6578											
PML	5371	mdanderson.org	37	chr15	74315527	74315527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggctgggccgcctggatGctgtgctgcagcgcatccgc	3	8	16	14	4	0	0	0	0	0	0	2	1	1	1	3	3	4	5	3	3	0	0			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr15:74315527G>T	ENST00000268058.3	+	3	1057	c.961G>T	c.(961-963)Gct>Tct	p.A321S	PML_ENST00000563500.1_Missense_Mutation_p.A321S|PML_ENST00000564428.1_Missense_Mutation_p.A321S|PML_ENST00000565898.1_Missense_Mutation_p.A321S|PML_ENST00000268059.6_Missense_Mutation_p.A321S|PML_ENST00000354026.6_Missense_Mutation_p.A321S|PML_ENST00000395135.3_Missense_Mutation_p.A321S|PML_ENST00000569477.1_Missense_Mutation_p.A321S|PML_ENST00000435786.2_Missense_Mutation_p.A321S|PML_ENST00000436891.3_Missense_Mutation_p.A321S|PML_ENST00000567543.1_Missense_Mutation_p.A321S|PML_ENST00000569161.1_3'UTR|PML_ENST00000569965.1_Missense_Mutation_p.A321S|PML_ENST00000359928.4_Missense_Mutation_p.A321S|PML_ENST00000395132.2_Missense_Mutation_p.A321S	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	321					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCGCCTGGATGCTGTGCTGCA	0.682			T	"RARA, PAX5"	"APL, ALL"																																p.A321S				Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	.			0			c.G961T												18	23	21					15																	74315527		2187	4276	6463	SO:0001583	missense	5371	exon3			CTGGATGCTGTGC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.961G>T	15.37:g.74315527G>T	ENSP00000268058:p.Ala321Ser		26	0	0		20	0.1	2	NM_033249	21	0	0	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473551	0.26423	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.46451	0.87	5.06	-0.813	0.10850	.	0.677280	0.13881	N	0.356333	T	0.44519	0.1297	L	0.54323	1.7	0.09310	N	1	P;B;P;P;P;B;P;P;P;P;P;D;P	0.57571	0.947;0.304;0.914;0.796;0.796;0.313;0.793;0.89;0.951;0.951;0.525;0.98;0.86	P;B;P;B;B;B;B;P;P;P;B;P;B	0.56088	0.701;0.068;0.541;0.326;0.326;0.216;0.354;0.602;0.613;0.613;0.164;0.791;0.306	T	0.30679	-0.9970	10	0.34782	T	0.22	-5.5019	5.6445	0.17582	0.342:0.0:0.5257:0.1323	.	321;271;321;321;321;321;321;321;321;321;321;321;324	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	S	321	ENSP00000268058:A321S	ENSP00000268058:A321S	A	+	1	0	PML	72102580	0.000000	0.05858	0.000000	0.03702	0.658000	0.38924	0.720000	0.25896	-0.044000	0.13491	-0.368000	0.07277	GCT			0.682	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269021.3		NM_002675		T	74315527	G	T	74315527	3	4	93	1	0	0	0	0	1	0	0	0	12152	1319	46	2	971	2	PML	15	74315527	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	1672026	74315527	28215865	57	6579											
SYNM	23336	hgsc.bcm.edu;mdanderson.org	37	chr15	99666940	99666940	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacagggccttattggaaGgagaaagtaatccagagata	15	10	11	5	0	0	2	0	0	0	2	1	5	1	3	2	3	1	1	2	3	6	6			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr15:99666940G>T	ENST00000560674.1	+	3	560	c.91G>T	c.(91-93)Gga>Tga	p.G31*	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Nonsense_Mutation_p.G316*|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Nonsense_Mutation_p.G316*			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	317	Coil 1A.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CTTATTGGAAGGAGAAAGTAA	0.388																																					.	Pancreas(125;1071 1762 21750 40003 40381)												.	.			0			.												86	82	83					15																	99666940		1847	4101	5948	SO:0001587	stop_gained	23336	.			TTGGAAGGAGAAA	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.91G>T	15.37:g.99666940G>T	ENSP00000453040:p.Gly31*		85	0	0		68	0.07	5	.	0		0	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	G	39	7.527891	0.98339	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6976	0.91607	0.0:0.0:1.0:0.0	.	.	.	.	X	316	.	ENSP00000330469:G316X	G	+	1	0	SYNM	97484463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.831000	0.69330	2.770000	0.95276	0.655000	0.94253	GGA			0.388	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000415698.2		NM_145728		T	99666940	G	T	99666940	4	4	93	1	0	0	0	0	0	1	0	0	15478	1001	35	3	958	3	SYNM	15	99666940	Nonsense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	25351413	99666940	2864452	58	6580											
WDR24	84219	mdanderson.org	37	chr16	735454	735454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggaggagtccacgggggCcagggaggccacatccgcct	9	3	17	12	2	0	0	0	0	0	0	2	4	2	3	5	6	0	0	5	6	1	0			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr16:735454C>T	ENST00000248142.6	-	11	2211	c.2212G>A	c.(2212-2214)Gcc>Acc	p.A738T	JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.A608T|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	738										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCCACGGGGGCCAGGGAGGCC	0.701																																					p.A608T													.	.			0			c.G1822A												30	38	36					16																	735454		2199	4294	6493	SO:0001583	missense	84219	exon7			CGGGGGCCAGGGA	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2212G>A	16.37:g.735454C>T	ENSP00000248142:p.Ala738Thr		55	0	0		41	0.07	3	NM_032259	52	0	0	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37		.	.	.	.	.	.	.	.	.	.	C	1.829	-0.470204	0.04445	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.76316	-1.01;0.39	4.78	2.66	0.31614	.	0.556807	0.20139	N	0.098401	T	0.42314	0.1197	N	0.01352	-0.895	0.27961	N	0.936757	B	0.02656	0.0	B	0.01281	0.0	T	0.35400	-0.9790	10	0.10111	T	0.7	-4.8384	4.7997	0.13290	0.0:0.6127:0.0:0.3873	.	608	Q96S15-2	.	T	738;608	ENSP00000248142:A738T;ENSP00000293883:A608T	ENSP00000248142:A738T	A	-	1	0	WDR24	675455	1.000000	0.71417	0.002000	0.10522	0.029000	0.11900	3.743000	0.55104	1.235000	0.43724	0.511000	0.50034	GCC			0.701	WDR24-201	KNOWN	basic	protein_coding	protein_coding				NM_032259		T	735454	C	T	735454	3	4	93	1	0	0	0	0	1	0	0	0	17305	739	26	2	562	2	WDR24	16	735454	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10		735454	89619299	59	6581											
ARHGAP17	55114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	24965936	24965936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcacctcctccttcatGcctgtctccagaagcagcat	7	10	5	19	0	3	1	2	0	1	1	6	1	5	1	7	0	3	2	7	0	1	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr16:24965936G>A	ENST00000289968.6	-	10	909	c.840C>T	c.(838-840)ggC>ggT	p.G280G	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.G280G|ARHGAP17_ENST00000575975.1_5'Flank	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	280	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)|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)		CCTCCTTCATGCCTGTCTCCA	0.597																																					p.G280G													.	.			0			c.C840T												117	109	112					16																	24965936		2197	4300	6497	SO:0001819	synonymous_variant	55114	exon10			CTTCATGCCTGTC	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.840C>T	16.37:g.24965936G>A			38	0	0		32	0.38	12	NM_001006634	14	0	0	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	CCDS32409.1																																																																																					0.597	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436548.3		NM_018054		A	24965936	G	A	24965936	2	1	93	1	0	0	0	0	0	0	0	1	867	1306	46	2		2	ARHGAP17	16	24965936	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	24230482	24965936	65388817	60	6582											
ITGAX	3687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	31371099	31371099	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgcaactttgccacgaTgatgaacttcgtgagagctg	9	10	10	12	3	0	3	0	3	0	1	2	5	1	3	2	0	4	2	2	0	2	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr16:31371099T>A	ENST00000268296.4	+	6	630	c.509T>A	c.(508-510)aTg>aAg	p.M170K	ITGAX_ENST00000562522.1_Missense_Mutation_p.M170K	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	170	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						TTTGCCACGATGATGAACTTC	0.597																																					p.M170K													.	.			0			c.T509A												90	78	82					16																	31371099		2197	4300	6497	SO:0001583	missense	3687	exon6			CCACGATGATGAA	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.509T>A	16.37:g.31371099T>A	ENSP00000268296:p.Met170Lys		67	0	0		65	0.28	18	NM_000887	0		0	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430798	0.62844	.	.	ENSG00000140678	ENST00000268296	D	0.83755	-1.76	4.82	4.82	0.62117	von Willebrand factor, type A (3);	.	.	.	.	D	0.92182	0.7521	M	0.92026	3.265	0.42367	D	0.992432	D	0.89917	1.0	D	0.97110	1.0	D	0.93689	0.7005	9	0.87932	D	0	.	12.1961	0.54298	0.0:0.0:0.0:1.0	.	170	P20702	ITAX_HUMAN	K	170	ENSP00000268296:M170K	ENSP00000268296:M170K	M	+	2	0	ITGAX	31278600	1.000000	0.71417	0.257000	0.24404	0.033000	0.12548	2.826000	0.48104	1.928000	0.55862	0.383000	0.25322	ATG			0.597	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255628.2		NM_000887		A	31371099	T	A	31371099	3	1	93	1	0	0	0	0	1	0	0	0	7904	1464	51	5	531	5	ITGAX	16	31371099	Missense_Mutation	SNP	T	TCGA-SN-A84X-01A-11D-A435-10	6405163	31371099	58983654	61	6583											
EDC4	23644	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67911669	67911669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgggacctggacatgcTccgctccagccacagtacct	7	8	12	14	1	0	0	0	0	0	0	2	2	2	2	5	3	3	3	5	3	1	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr16:67911669T>C	ENST00000358933.5	+	7	1054	c.815T>C	c.(814-816)cTc>cCc	p.L272P	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	272				ML -> IV (in Ref. 1; AAA21833). {ECO:0000305}.	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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGGACATGCTCCGCTCCAGC	0.587																																					p.L272P													.	.			0			c.T815C												114	81	92					16																	67911669		2198	4300	6498	SO:0001583	missense	23644	exon7			ACATGCTCCGCTC	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.815T>C	16.37:g.67911669T>C	ENSP00000351811:p.Leu272Pro		110	0	0		163	0.2	33	NM_014329	12	0.33	4	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940773	0.73557	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.55930	0.49	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.069481	0.64402	D	0.000017	T	0.49712	0.1573	N	0.24115	0.695	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.51016	0.556;0.656	T	0.51756	-0.8665	10	0.46703	T	0.11	-13.2812	15.2043	0.73165	0.0:0.0:0.0:1.0	.	204;272	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	P	272;204	ENSP00000351811:L272P	ENSP00000351811:L272P	L	+	2	0	EDC4	66469170	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.636000	0.83301	2.089000	0.63090	0.379000	0.24179	CTC			0.587	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268874.2		NM_014329		C	67911669	T	C	67911669	3	2	93	1	0	0	0	0	1	0	0	0	4913	1551	54	4	841	4	EDC4	16	67911669	Missense_Mutation	SNP	T	TCGA-SN-A84X-01A-11D-A435-10	36540570	67911669	22443084	62	6584											
VPS4A	27183	mdanderson.org	37	chr16	69352745	69352745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccgtcgtgatggagaaGcccaacatacggtggaacga	11	6	15	9	4	0	2	0	1	0	1	1	5	0	3	2	4	5	0	2	4	4	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr16:69352745G>T	ENST00000254950.11	+	5	519	c.363G>T	c.(361-363)aaG>aaT	p.K121N	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.K145N|COG8_ENST00000564419.1_5'Flank	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TGATGGAGAAGCCCAACATAC	0.642																																					p.K121N													.	.			0			c.G363T												101	111	108					16																	69352745		1898	4117	6015	SO:0001583	missense	27183	exon5			GGAGAAGCCCAAC	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.363G>T	16.37:g.69352745G>T	ENSP00000254950:p.Lys121Asn		32	0	0		38	0.08	3	NM_013245	149	0	0		Missense_Mutation	SNP	ENST00000254950.11	37	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388552	0.61956	.	.	ENSG00000132612	ENST00000254950	D	0.95554	-3.74	6.17	3.19	0.36642	.	0.089293	0.85682	D	0.000000	D	0.92182	0.7521	L	0.42245	1.32	0.80722	D	1	B	0.16166	0.016	B	0.24974	0.057	D	0.86588	0.1858	10	0.37606	T	0.19	-34.0134	11.1425	0.48411	0.1954:0.0:0.8046:0.0	.	121	Q9UN37	VPS4A_HUMAN	N	121	ENSP00000254950:K121N	ENSP00000254950:K121N	K	+	3	2	VPS4A	67910246	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.536000	0.45693	0.494000	0.27859	0.655000	0.94253	AAG			0.642	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430563.3		NM_013245		T	69352745	G	T	69352745	3	4	93	1	0	0	0	0	1	0	0	0	17236	962	34	2	381	2	VPS4A	16	69352745	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	1441076	69352745	21002008	63	6585											
COG8	84342	mdanderson.org	37	chr16	69369198	69369198	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgttggtcctcagttgctgGatcagctggctcagcatcag	7	12	12	10	0	4	0	4	0	0	0	5	1	5	1	1	3	3	6	1	3	0	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr16:69369198G>T	ENST00000306875.4	-	3	753	c.639C>A	c.(637-639)atC>atA	p.I213I	RP11-343C2.9_ENST00000563634.1_Silent_p.I88I|COG8_ENST00000562081.1_Silent_p.I213I|RP11-343C2.12_ENST00000562949.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	213					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCAGTTGCTGGATCAGCTGGC	0.572																																					p.I213I													.	.			0			c.C639A												61	40	47					16																	69369198		2198	4300	6498	SO:0001819	synonymous_variant	84342	exon3			TTGCTGGATCAGC	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.639C>A	16.37:g.69369198G>T			19	0	0		17	0.12	2	NM_032382	32	0	0	Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	CCDS10876.1																																																																																					0.572	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268948.2		NM_032382		T	69369198	G	T	69369198	2	4	93	1	0	0	0	0	0	0	0	1	3666	1164	41	3		3	COG8	16	69369198	Silent	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	16453	69369198	20985555	64	6586											
DHODH	1723	mdanderson.org	37	chr16	72057134	72057134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccagggtgccctgcGctctgaaacaggagggctga	7	6	16	12	1	1	2	0	2	1	0	2	3	2	3	3	4	3	2	3	4	1	0	rs200181357		TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr16:72057134G>T	ENST00000219240.4	+	7	911	c.890G>T	c.(889-891)cGc>cTc	p.R297L	DHODH_ENST00000572887.1_Missense_Mutation_p.R297L|DHODH_ENST00000573922.1_3'UTR	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	297					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GGTGCCCTGCGCTCTGAAACA	0.562																																					p.R297L													DHODH,NS,carcinoma,+1,1	DHODH	1	1	0			c.G890T												44	45	45					16																	72057134		1923	4135	6058	SO:0001583	missense	1723	exon7			CCCTGCGCTCTGA		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.890G>T	16.37:g.72057134G>T	ENSP00000219240:p.Arg297Leu		82	0	0		35	0.09	3	NM_001361	21	0	0	A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241768	0.58995	.	.	ENSG00000102967	ENST00000219240	D	0.85171	-1.95	5.59	4.62	0.57501	Aldolase-type TIM barrel (1);	0.391760	0.29775	N	0.011234	T	0.76506	0.3997	L	0.31371	0.925	0.47308	D	0.999385	B	0.24651	0.108	B	0.25614	0.062	T	0.72134	-0.4382	10	0.39692	T	0.17	-0.3484	10.1455	0.42760	0.0712:0.1378:0.791:0.0	.	297	Q02127	PYRD_HUMAN	L	297	ENSP00000219240:R297L	ENSP00000219240:R297L	R	+	2	0	DHODH	70614635	0.967000	0.33354	1.000000	0.80357	0.904000	0.53231	2.880000	0.48530	1.458000	0.47871	0.561000	0.74099	CGC			0.562	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_001361		T	72057134	G	T	72057134	3	4	93	1	0	0	0	0	1	0	0	0	4489	1087	38	1	916	1	DHODH	16	72057134	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	2687936	72057134	18297619	65	6587											
DNAH2	146754	mdanderson.org	37	chr17	7689596	7689596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcaagactgcctcatggcGcattctacaggcctccctgt	7	9	10	15	2	2	1	1	0	1	1	3	1	3	1	3	3	2	2	3	3	2	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr17:7689596G>A	ENST00000572933.1	+	40	7744	c.6284G>A	c.(6283-6285)cGc>cAc	p.R2095H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2095H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2095	AAA 2. {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)				GCCTCATGGCGCATTCTACAG	0.577																																					p.R2095H													.	.			0			c.G6284A												63	59	61					17																	7689596		2203	4300	6503	SO:0001583	missense	146754	exon39			CATGGCGCATTCT	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.6284G>A	17.37:g.7689596G>A	ENSP00000458355:p.Arg2095His		47	0	0		43	0.07	3	NM_020877	0		0	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342002	0.41498	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.47528	0.84	5.44	2.33	0.28932	ATPase, dynein-related, AAA domain (1);	0.211149	0.37178	N	0.002205	T	0.40067	0.1102	L	0.53561	1.675	0.45914	D	0.998751	B	0.33807	0.426	B	0.34346	0.18	T	0.12319	-1.0552	10	0.27082	T	0.32	.	10.3688	0.44042	0.2203:0.0:0.7797:0.0	.	2095	Q9P225	DYH2_HUMAN	H	2095	ENSP00000373825:R2095H	ENSP00000353818:R2095H	R	+	2	0	DNAH2	7630321	0.928000	0.31464	0.033000	0.17914	0.524000	0.34500	1.538000	0.36094	0.402000	0.25451	0.655000	0.94253	CGC			0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440241.1		NM_020877		A	7689596	G	A	7689596	3	1	93	1	0	0	0	0	1	0	0	0	4607	1087	38	1	6438	1	DNAH2	17	7689596	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		7689596	73505614	66	6588											
ITGA2B	3674	broad.mit.edu	37	chr17	42460925	42460925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccgaatcgcccatagagCtgtgtgccagtcagcaggag	10	6	14	11	2	1	1	1	0	0	1	2	4	1	2	3	1	4	2	3	1	2	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr17:42460925C>A	ENST00000262407.5	-	12	1177	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H	ITGA2B_ENST00000377068.3_Missense_Mutation_p.Q67H|ITGA2B_ENST00000353281.4_Missense_Mutation_p.Q382H	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	382					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)			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)	GCCCATAGAGCTGTGTGCCAG	0.647																																					p.Q382H													.	ITGA2B	88		0			c.G1146T												24	22	22					17																	42460925		2202	4299	6501	SO:0001583	missense	3674	exon12			ATAGAGCTGTGTG		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.1146G>T	17.37:g.42460925C>A	ENSP00000262407:p.Gln382His		52	0.0192307692	1		62	0.1	6	NM_000419	6	0	0	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253429	0.59212	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.71579	-0.58;-0.58;-0.58	5.8	3.79	0.43588	.	0.533626	0.13983	N	0.349375	T	0.66416	0.2787	M	0.77486	2.375	0.35140	D	0.768752	P	0.48230	0.907	B	0.39465	0.3	T	0.75712	-0.3222	10	0.72032	D	0.01	.	5.0424	0.14465	0.1478:0.6213:0.0:0.2309	.	382	P08514	ITA2B_HUMAN	H	382;382;67	ENSP00000262407:Q382H;ENSP00000340536:Q382H;ENSP00000366268:Q67H	ENSP00000262407:Q382H	Q	-	3	2	ITGA2B	39816451	0.000000	0.05858	0.997000	0.53966	0.996000	0.88848	-0.708000	0.05035	1.442000	0.47568	0.561000	0.74099	CAG			0.647	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439823.1				A	42460925	C	A	42460925	3	1	93	1	0	0	0	0	1	0	0	0	7891	796	28	2	2049	2	ITGA2B	17	42460925	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	34771329	42460925	38734285	67	6589											
NFE2L1	4779	bcgsc.ca;mdanderson.org	37	chr17	46136684	46136684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcaagaacaagatggCggcgcagaactgccgcaagc	12	2	15	12	4	0	3	0	0	0	3	0	3	0	3	2	4	4	3	2	4	5	0			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr17:46136684C>T	ENST00000362042.3	+	6	2616	c.2000C>T	c.(1999-2001)gCg>gTg	p.A667V	NFE2L1_ENST00000583378.1_Missense_Mutation_p.A468V|NFE2L1_ENST00000357480.5_Missense_Mutation_p.A637V|NFE2L1_ENST00000361665.3_Missense_Mutation_p.A656V|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000536222.1_Missense_Mutation_p.A511V|NFE2L1_ENST00000582155.1_Missense_Mutation_p.A479V|NFE2L1_ENST00000585291.1_Missense_Mutation_p.A637V	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	667	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACAAGATGGCGGCGCAGAAC	0.592																																					p.A667V													.	NFE2L1	60		0			c.C2000T												44	44	44					17																	46136684		2203	4300	6503	SO:0001583	missense	4779	exon6			AGATGGCGGCGCA	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2000C>T	17.37:g.46136684C>T	ENSP00000354855:p.Ala667Val		76	0	0		74	0.07	5	NM_003204	398	0	0	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728385	0.89390	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	D;D	0.92752	-3.1;-3.1	5.89	5.89	0.94794	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.999	D	0.97417	1.0006	10	0.87932	D	0	-25.3159	19.0276	0.92939	0.0:1.0:0.0:0.0	.	511;479;637;667	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	V	686;667;637;511	ENSP00000350072:A637V;ENSP00000445811:A511V	ENSP00000350072:A637V	A	+	2	0	NFE2L1	43491683	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.770000	0.85390	2.797000	0.96272	0.563000	0.77884	GCG			0.592	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443019.1		NM_003204		T	46136684	C	T	46136684	3	4	93	1	0	0	0	0	1	0	0	0	10384	768	27	1	2018	1	NFE2L1	17	46136684	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	3675759	46136684	35058526	68	6590											
GIP	2695	broad.mit.edu	37	chr17	47039146	47039146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgactggccagctccagcGcccgagcctccctctgggtg	4	8	12	17	2	1	1	0	1	1	0	3	2	3	1	5	2	3	1	5	2	0	1			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr17:47039146G>T	ENST00000357424.2	-	4	393	c.293C>A	c.(292-294)gCg>gAg	p.A98E		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	98					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						CAGCTCCAGCGCCCGAGCCTC	0.582																																					p.A98E													.	GIP	15		0			c.C293A												42	35	37					17																	47039146		2203	4300	6503	SO:0001583	missense	2695	exon4			TCCAGCGCCCGAG		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.293C>A	17.37:g.47039146G>T	ENSP00000350005:p.Ala98Glu		49	0	0		60	0.07	4	NM_004123	434	0	0	Q4VB42|Q6NTD3	Missense_Mutation	SNP	ENST00000357424.2	37	CCDS11542.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041005	0.55003	.	.	ENSG00000159224	ENST00000357424	T	0.25749	1.78	5.03	1.66	0.24008	.	0.243209	0.29087	N	0.013185	T	0.18257	0.0438	L	0.32530	0.975	0.09310	N	1	P	0.38827	0.649	B	0.40165	0.321	T	0.08889	-1.0700	10	0.38643	T	0.18	-4.6126	7.7403	0.28837	0.0:0.3689:0.4616:0.1695	.	98	P09681	GIP_HUMAN	E	98	ENSP00000350005:A98E	ENSP00000350005:A98E	A	-	2	0	GIP	44394145	0.009000	0.17119	0.003000	0.11579	0.000000	0.00434	1.099000	0.31013	0.661000	0.30985	-0.175000	0.13238	GCG			0.582	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364044.1		NM_004123		T	47039146	G	T	47039146	3	4	93	1	0	0	0	0	1	0	0	0	6405	1087	38	1	180	1	GIP	17	47039146	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	902462	47039146	34156064	69	6591											
TANC2	26115	mdanderson.org	37	chr17	61489048	61489048	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctatggcgatgctgaggtgGtaagtacctttaaacaagcc	11	11	11	8	1	1	1	0	1	1	0	1	2	1	1	2	3	4	3	2	3	6	5			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr17:61489048G>T	ENST00000424789.2	+	20	3547		c.e20+1		TANC2_ENST00000389520.4_Splice_Site|RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2						in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCTGAGGTGGTAAGTACCTT	0.498																																					.													.	.			0			c.3543+1G>T												82	78	80					17																	61489048		2002	4172	6174	SO:0001630	splice_region_variant	26115	exon20			GAGGTGGTAAGTA	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3543+1G>T	17.37:g.61489048G>T			36	0	0		48	0.06	3	NM_025185	0		0	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Splice_Site	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991659	0.74703	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2861	0.98535	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TANC2	58842780	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.836000	0.99456	2.786000	0.95864	0.650000	0.86243	.			0.498	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444765.1			Intron	T	61489048	G	T	61489048	5	4	93	1	0	0	0	0	0	0	1	0	15568	1275	44	3	3622	3	TANC2	17	61489048	Splice_Site	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	14449902	61489048	19706162	70	6592											
ARSG	22901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	66339927	66339927	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgggttacgtcactgggaTaataggtaactctgggcccc	8	9	14	10	2	2	0	1	0	1	0	2	1	2	1	2	5	2	2	2	5	4	4			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr17:66339927T>G	ENST00000448504.2	+	3	1197	c.401T>G	c.(400-402)aTa>aGa	p.I134R	ARSG_ENST00000452479.2_De_novo_Start_InFrame	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	134					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)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTCACTGGGATAATAGGTAAC	0.552																																					p.I134R													.	.			0			c.T401G												59	41	47					17																	66339927		2203	4300	6503	SO:0001583	missense	22901	exon3			CTGGGATAATAGG	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.401T>G	17.37:g.66339927T>G	ENSP00000407193:p.Ile134Arg		57	0	0		89	0.2	18	NM_001267727	3	0	0	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996338	0.35226	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.56	4.56	0.56223	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.138081	0.64402	D	0.000004	T	0.62804	0.2458	M	0.76433	2.335	0.80722	D	1	B	0.20164	0.042	B	0.28991	0.097	T	0.65425	-0.6171	9	0.66056	D	0.02	.	9.7115	0.40247	0.0:0.0848:0.0:0.9152	.	134	Q96EG1	ARSG_HUMAN	R	134	.	ENSP00000413953:I134R	I	+	2	0	ARSG	63851522	1.000000	0.71417	0.979000	0.43373	0.393000	0.30537	4.983000	0.63832	2.034000	0.60081	0.528000	0.53228	ATA			0.552	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448369.1		NM_014960		G	66339927	T	G	66339927	3	3	93	1	0	0	0	0	1	0	0	0	992	1406	49	4	407	4	ARSG	17	66339927	Missense_Mutation	SNP	T	TCGA-SN-A84X-01A-11D-A435-10	4850879	66339927	14855283	71	6593											
UNC13D	201294	mdanderson.org	37	chr17	73840402	73840402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggcgctgctgcggatggGagaggagtgtcgccatggtg	6	7	21	7	3	0	1	0	0	0	1	1	5	0	3	1	5	2	2	1	5	0	0			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr17:73840402G>T	ENST00000207549.4	-	1	396	c.17C>A	c.(16-18)tCc>tAc	p.S6Y	UNC13D_ENST00000587504.1_5'Flank|UNC13D_ENST00000412096.2_Missense_Mutation_p.S6Y	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	6					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)			CTGCGGATGGGAGAGGAGTGT	0.632									Familial Hemophagocytic Lymphohistiocytosis																												p.S6Y													.	.			0			c.C17A												45	46	45					17																	73840402		2201	4299	6500	SO:0001583	missense	201294	exon1	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	GGATGGGAGAGGA	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.17C>A	17.37:g.73840402G>T	ENSP00000207549:p.Ser6Tyr		58	0	0		41	0.07	3	NM_199242	5	0	0	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358076	0.41801	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.72051	-0.55;-0.62	4.04	4.04	0.47022	.	0.481169	0.17741	N	0.163565	T	0.65637	0.2710	L	0.44542	1.39	0.09310	N	1	P	0.43094	0.799	B	0.43575	0.424	T	0.61973	-0.6952	10	0.66056	D	0.02	0.8921	11.5623	0.50785	0.0:0.0:1.0:0.0	.	6	Q70J99	UN13D_HUMAN	Y	6	ENSP00000207549:S6Y;ENSP00000388093:S6Y	ENSP00000207549:S6Y	S	-	2	0	UNC13D	71351997	0.049000	0.20398	0.025000	0.17156	0.197000	0.23852	1.240000	0.32731	2.098000	0.63641	0.561000	0.74099	TCC			0.632	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448847.2		XM_113950		T	73840402	G	T	73840402	3	4	93	1	0	0	0	0	1	0	0	0	17011	1174	41	3	3383	3	UNC13D	17	73840402	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	7500475	73840402	7354808	72	6594											
SMARCA4	6597	hgsc.bcm.edu	37	chr19	11144829	11144829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcccgacgacgagaccGtcaaccagatgatcgcccgg	10	4	13	14	6	1	3	1	1	0	2	2	6	1	3	4	2	2	0	4	2	1	0			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr19:11144829G>T	ENST00000429416.3	+	29	4185	c.3904G>T	c.(3904-3906)Gtc>Ttc	p.V1302F	SMARCA4_ENST00000541122.2_Missense_Mutation_p.V1269F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.V1302F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.V1269F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.V1269F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.V1269F|SMARCA4_ENST00000358026.2_Missense_Mutation_p.V1302F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.V1269F|SMARCA4_ENST00000444061.3_Missense_Mutation_p.V1269F|SMARCA4_ENST00000538456.3_3'UTR	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1302					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)				CGACGAGACCGTCAACCAGAT	0.627			"F, N, Mis"		NSCLC																																p.V1302F				Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	.	.			1	Unknown(1)	lung(1)	c.G3904T												126	105	112					19																	11144829		2203	4300	6503	SO:0001583	missense	6597	exon28			GAGACCGTCAACC	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.3904G>T	19.37:g.11144829G>T	ENSP00000395654:p.Val1302Phe		79	0	0		84	0.05	4	NM_003072	487	0	0	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.405642|4.405642	0.83230|0.83230	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.|D;D;D;D;D;D;D	.|0.96104	.|-2.28;-2.25;-2.28;-3.91;-3.91;-3.91;-3.91	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.97420|0.97420	0.9156|0.9156	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P;D	.|0.64830	.|0.987;0.987;0.987;0.994;0.987;0.875;0.987	.|P;P;P;D;P;B;P	.|0.69824	.|0.898;0.898;0.898;0.966;0.808;0.43;0.898	D|D	0.98128|0.98128	1.0429|1.0429	5|10	.|0.87932	.|D	.|0	-51.7476|-51.7476	16.4262|16.4262	0.83815|0.83815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1269;1269;1269;1302;1269;489;1302	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	L|F	38|1302;1302;1333;1302;1269;1269;1269;1269	.|ENSP00000395654:V1302F;ENSP00000350720:V1302F;ENSP00000343896:V1302F;ENSP00000445036:V1269F;ENSP00000392837:V1269F;ENSP00000397783:V1269F;ENSP00000414727:V1269F	.|ENSP00000343896:V1302F	R|V	+|+	2|1	0|0	SMARCA4|SMARCA4	11005829|11005829	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.962000|0.962000	0.63368|0.63368	3.651000|3.651000	0.54431|0.54431	2.423000|2.423000	0.82170|0.82170	0.462000|0.462000	0.41574|0.41574	CGT|GTC			0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000452638.2		NM_003072		T	11144829	G	T	11144829	3	4	93	1	0	0	0	0	1	0	0	0	14793	1145	40	1	4010	1	SMARCA4	19	11144829	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		11144829	47984154	73	6595											
ILVBL	10994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	15233609	15233609	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgggcagctccacaaacAccggacctgcagggacaggg	12	2	13	14	2	0	0	0	0	0	0	1	2	1	2	3	4	4	3	3	4	2	0			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr19:15233609A>C	ENST00000263383.3	-	6	750	c.611T>G	c.(610-612)gTg>gGg	p.V204G	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000534378.1_Missense_Mutation_p.V97G|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	204						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CTCCACAAACACCGGACCTGC	0.632																																					p.V204G													.	.			0			c.T611G												90	79	83					19																	15233609		2203	4300	6503	SO:0001583	missense	10994	exon6			ACAAACACCGGAC	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.611T>G	19.37:g.15233609A>C	ENSP00000263383:p.Val204Gly		86	0	0		87	0.3	26	NM_006844	121	0.35	42	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.627900	0.46944	.	.	ENSG00000105135	ENST00000263383;ENST00000527093	T	0.66280	-0.2	4.36	4.36	0.52297	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.062227	0.64402	D	0.000005	D	0.85461	0.5702	H	0.99169	4.455	0.80722	D	1	D	0.56746	0.977	P	0.61722	0.893	D	0.90163	0.4229	10	0.87932	D	0	-23.1508	11.5444	0.50685	1.0:0.0:0.0:0.0	.	204	A1L0T0	ILVBL_HUMAN	G	204	ENSP00000263383:V204G	ENSP00000263383:V204G	V	-	2	0	ILVBL	15094609	1.000000	0.71417	0.965000	0.40720	0.274000	0.26718	8.630000	0.90987	1.844000	0.53588	0.459000	0.35465	GTG			0.632	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385439.1		NM_006844		C	15233609	A	C	15233609	3	2	93	1	0	0	0	0	1	0	0	0	7730	159	6	4	1331	4	ILVBL	19	15233609	Missense_Mutation	SNP	A	TCGA-SN-A84X-01A-11D-A435-10	4088780	15233609	43895374	74	6596											
ANO8	57719	mdanderson.org	37	chr19	17439209	17439209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccgggagccccctccGcctcgtcgtcctcctcggcc	1	7	12	21	5	0	0	0	0	0	0	6	1	3	1	8	3	2	1	8	3	0	0	rs202118586		TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr19:17439209G>T	ENST00000159087.4	-	13	2146	c.1988C>A	c.(1987-1989)gCg>gAg	p.A663E		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	663	Glu-rich.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AGCCCCCTCCGCCTCGTCGTC	0.756																																					p.A663E													.	.			0			c.C1988A												4	4	4					19																	17439209		1970	3908	5878	SO:0001583	missense	57719	exon13			CCCTCCGCCTCGT	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1988C>A	19.37:g.17439209G>T	ENSP00000159087:p.Ala663Glu		25	0	0		23	0.09	2	NM_020959	6	0	0	A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359170	0.41801	.	.	ENSG00000074855	ENST00000159087	T	0.61859	0.07	4.73	3.62	0.41486	.	0.560794	0.18913	N	0.127686	T	0.42877	0.1222	L	0.40543	1.245	0.20196	N	0.999924	B	0.13145	0.007	B	0.15870	0.014	T	0.24941	-1.0146	10	0.30078	T	0.28	.	5.1303	0.14907	0.1203:0.0:0.6838:0.196	.	663	Q9HCE9	ANO8_HUMAN	E	663	ENSP00000159087:A663E	ENSP00000159087:A663E	A	-	2	0	ANO8	17300209	0.007000	0.16637	0.374000	0.26016	0.805000	0.45488	0.476000	0.22180	0.859000	0.35456	0.313000	0.20887	GCG			0.756	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462943.1		XM_050644		T	17439209	G	T	17439209	3	4	93	1	0	0	0	0	1	0	0	0	703	1087	38	1	1734	1	ANO8	19	17439209	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10	2205600	17439209	41689774	75	6597											
MEGF8	1954	mdanderson.org	37	chr19	42872801	42872801	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggagggtggactcagCggcccccgtgatggtgagag	7	7	18	9	2	1	2	1	2	0	1	1	5	1	4	2	5	2	1	2	5	0	0			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr19:42872801C>T	ENST00000251268.6	+	36	6468	c.6468C>T	c.(6466-6468)agC>agT	p.S2156S	MEGF8_ENST00000334370.4_Silent_p.S2089S|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2156	PSI 7.				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)				GTGGACTCAGCGGCCCCCGTG	0.672																																					p.S2156S													.	.			0			c.C6468T												6	8	8					19																	42872801		2169	4250	6419	SO:0001819	synonymous_variant	1954	exon36			ACTCAGCGGCCCC	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.6468C>T	19.37:g.42872801C>T			28	0	0		38	0.08	3	NM_001271938	0		0	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37																																																																																						0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000463854.1		NM_001410		T	42872801	C	T	42872801	2	4	93	1	0	0	0	0	0	0	0	1	9479	767	27	1		1	MEGF8	19	42872801	Silent	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	25433592	42872801	16256182	76	6598											
C20orf27	54976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3739195	3739195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtaccttgaccagaaaGctgctgtcactctcctgggt	8	11	10	12	0	2	2	1	1	1	1	3	2	2	2	3	1	3	4	3	1	2	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr20:3739195G>C	ENST00000379772.3	-	3	960	c.150C>G	c.(148-150)agC>agG	p.S50R	C20orf27_ENST00000217195.8_Missense_Mutation_p.S75R	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	50										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TGACCAGAAAGCTGCTGTCAC	0.597																																					p.S75R													.	.			0			c.C225G												152	140	144					20																	3739195		2203	4300	6503	SO:0001583	missense	54976	exon3			CAGAAAGCTGCTG	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"hypothetical protein LOC54976"					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.150C>G	20.37:g.3739195G>C	ENSP00000369097:p.Ser50Arg		35	0	0		61	0.25	15	NM_001039140	180	0.33	59	A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	CCDS58763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.555201|2.555201	0.45487|0.45487	.|.	.|.	ENSG00000101220|ENSG00000101220	ENST00000399683|ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765	.|.	.|.	.|.	4.96|4.96	4.01|4.01	0.46588|0.46588	.|.	.|0.120914	.|0.52532	.|U	.|0.000074	T|T	0.51550|0.51550	0.1681|0.1681	L|L	0.27053|0.27053	0.805|0.805	0.37918|0.37918	D|D	0.931581|0.931581	.|P;P;D	.|0.67145	.|0.589;0.839;0.996	.|B;B;P	.|0.62184	.|0.164;0.395;0.899	T|T	0.54262|0.54262	-0.8320|-0.8320	5|9	.|0.37606	.|T	.|0.19	-6.9144|-6.9144	7.516|7.516	0.27602|0.27602	0.1878:0.0:0.8122:0.0|0.1878:0.0:0.8122:0.0	.|.	.|50;75;50	.|Q9GZN8;Q9GZN8-2;E9PAL2	.|CT027_HUMAN;.;.	G|R	44|50;75;50;50	.|.	.|ENSP00000217195:S75R	A|S	-|-	2|3	0|2	C20orf27|C20orf27	3687195|3687195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.977000|2.977000	0.49297|0.49297	1.478000|1.478000	0.48253|0.48253	0.650000|0.650000	0.86243|0.86243	GCT|AGC			0.597	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077750.2		NM_001039140		C	3739195	G	C	3739195	3	2	93	1	0	0	0	0	1	0	0	0	2109	962	34	5	390	5	C20orf27	20	3739195	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		3739195	59286325	77	6599											
GDF5	8200	broad.mit.edu	37	chr20	34025551	34025551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaagacgttccgggccAgggggggcctctccttggcc	4	7	16	14	2	1	2	0	1	1	1	3	2	2	2	6	5	0	1	6	5	1	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr20:34025551A>G	ENST00000374372.1	-	3	661	c.158T>C	c.(157-159)cTg>cCg	p.L53P	GDF5_ENST00000374369.3_Missense_Mutation_p.L53P			P43026	GDF5_HUMAN	growth differentiation factor 5	53					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GTTCCGGGCCAGGGGGGGCCT	0.657																																					p.L53P													.	GDF5	66		0			c.T158C	GRCh37	CD025309|CI025313	GDF5	D|I								12	14	13					20																	34025551		2191	4284	6475	SO:0001583	missense	8200	exon1			CGGGCCAGGGGGG	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.158T>C	20.37:g.34025551A>G	ENSP00000363492:p.Leu53Pro		42	0.1666666667	7		36	0.22	8	NM_000557	0		0	E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	A	6.441	0.449538	0.12223	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.34472	1.36;1.36	4.59	2.27	0.28462	.	1.816570	0.02975	N	0.144885	T	0.24812	0.0602	N	0.14661	0.345	0.27812	N	0.942119	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18429	-1.0337	10	0.35671	T	0.21	.	7.5315	0.27685	0.7398:0.0:0.2602:0.0	.	53;53	F1T0J1;P43026	.;GDF5_HUMAN	P	53	ENSP00000363489:L53P;ENSP00000363492:L53P	ENSP00000363489:L53P	L	-	2	0	GDF5	33488965	0.192000	0.23301	0.872000	0.34217	0.915000	0.54546	1.040000	0.30278	0.798000	0.33994	0.260000	0.18958	CTG			0.657	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078875.2				G	34025551	A	G	34025551	3	3	93	1	0	0	0	0	1	0	0	0	6330	188	7	4	1355	4	GDF5	20	34025551	Missense_Mutation	SNP	A	TCGA-SN-A84X-01A-11D-A435-10	30286356	34025551	28999969	78	6600											
KRTAP10-4	386672	ucsc.edu	37	chr21	45993851	45993851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcccagtgacctgCgagcccagcccctgccaatc	6	6	9	20	1	0	1	0	1	0	0	1	2	0	1	7	0	6	1	7	0	1	0	rs201895065		TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chr21:45993851C>T	ENST00000400374.3	+	1	246	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	72	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						CAGTGACCTGCGAGCCCAGCC	0.721																																					p.C72C													.	KRTAP10-4	44		0			c.C216T												20	38	32					21																	45993851		1993	4191	6184	SO:0001819	synonymous_variant	386672	exon1			GACCTGCGAGCCC	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.216C>T	21.37:g.45993851C>T			18	0.3888888889	7		35	0.34	12	NM_198687	0		0	Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																					0.721	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128045.1		NM_198687		T	45993851	C	T	45993851	2	4	93	1	0	0	0	0	0	0	0	1	8526	776	27	1		1	KRTAP10-4	21	45993851	Silent	SNP	C	TCGA-SN-A84X-01A-11D-A435-10		45993851	2136044	79	6601											
ZNF41	7592	mdanderson.org	37	chrX	47308136	47308136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtatgaattttttgatGtgtaatgaggtttgatttga	9	18	11	3	1	0	5	0	5	0	0	0	5	0	5	1	2	0	3	1	2	3	7			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chrX:47308136G>T	ENST00000377065.4	-	5	1672	c.1033C>A	c.(1033-1035)Cat>Aat	p.H345N	ZNF41_ENST00000313116.7_Missense_Mutation_p.H345N|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.H355N	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	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)|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)				ATTTTTTGATGTGTAATGAGG	0.398																																					p.H345N													.	.			0			c.C1033A												56	59	58					X																	47308136		2202	4293	6495	SO:0001583	missense	7592	exon5			TTTGATGTGTAAT	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.1033C>A	X.37:g.47308136G>T	ENSP00000366265:p.His345Asn		20	0	0		42	0.07	3	NM_007130	1	0	0	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892567	0.17613	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	D;D;D	0.86865	-2.18;-2.18;-2.18	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36268	N	0.002692	D	0.93442	0.7908	H	0.95151	3.63	0.32059	N	0.595894	D;D;B;D;D	0.54964	0.962;0.962;0.006;0.962;0.969	P;P;B;P;P	0.54544	0.641;0.641;0.004;0.641;0.755	D	0.94675	0.7860	10	0.87932	D	0	.	12.5615	0.56283	0.0:0.0:1.0:0.0	.	345;347;355;379;387	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	N	345;345;355	ENSP00000315173:H345N;ENSP00000366265:H345N;ENSP00000380243:H355N	ENSP00000315173:H345N	H	-	1	0	ZNF41	47193080	1.000000	0.71417	0.918000	0.36340	0.026000	0.11368	5.455000	0.66658	2.116000	0.64780	0.594000	0.82650	CAT			0.398	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056429.1		NM_153380		T	47308136	G	T	47308136	3	4	93	1	0	0	0	0	1	0	0	0	17912	1377	48	3	1310	3	ZNF41	23	47308136	Missense_Mutation	SNP	G	TCGA-SN-A84X-01A-11D-A435-10		47308136	107962424	80	6602											
HCFC1	3054	mdanderson.org	37	chrX	153217373	153217373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaattgctctcaatggCtgggtcgttgagactgtcgg	7	11	15	8	2	1	1	1	1	1	1	4	3	1	1	0	4	1	4	0	4	2	2			TCGA-SN-A84X-01A-11D-A435-10	TCGA-SN-A84X-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7d0b2beb-3dce-4db2-a954-9c296657443b	31d3449d-0532-4ab1-95ab-131b0431c63e	g.chrX:153217373C>T	ENST00000310441.7	-	20	6145	c.5179G>A	c.(5179-5181)Gcc>Acc	p.A1727T	HCFC1_ENST00000354233.3_Missense_Mutation_p.A1658T|HCFC1_ENST00000369984.4_Missense_Mutation_p.A1772T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1727					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)					CTCTCAATGGCTGGGTCGTTG	0.657																																					p.A1727T													.	.			0			c.G5179A												17	20	19					X																	153217373		2011	4159	6170	SO:0001583	missense	3054	exon20			CAATGGCTGGGTC		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.5179G>A	X.37:g.153217373C>T	ENSP00000309555:p.Ala1727Thr		28	0	0		39	0.08	3	NM_005334	41	0	0	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.264|1.264	-0.615077|-0.615077	0.03663|0.03663	.|.	.|.	ENSG00000172534|ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233|ENST00000444191	T;T;T|.	0.03524|.	3.9;3.92;3.9|.	5.21|5.21	-9.92|-9.92	0.00455|0.00455	.|.	0.463064|.	0.24703|.	N|.	0.036298|.	T|T	0.23926|0.23926	0.0579|0.0579	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|5	0.14656|.	T|.	0.56|.	.|.	11.1023|11.1023	0.48182|0.48182	0.3077:0.5843:0.0:0.108|0.3077:0.5843:0.0:0.108	.|.	1727|.	P51610|.	HCFC1_HUMAN|.	T|N	1727;1772;1658|302	ENSP00000309555:A1727T;ENSP00000359001:A1772T;ENSP00000346174:A1658T|.	ENSP00000309555:A1727T|.	A|S	-|-	1|2	0|0	HCFC1|HCFC1	152870567|152870567	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.361000|0.361000	0.29550|0.29550	-1.313000|-1.313000	0.02718|0.02718	-1.800000|-1.800000	0.01247|0.01247	-0.403000|-0.403000	0.06358|0.06358	GCC|AGC			0.657	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061099.4		NM_005334		T	153217373	C	T	153217373	3	4	93	1	0	0	0	0	1	0	0	0	7006	797	28	2	956	2	HCFC1	23	153217373	Missense_Mutation	SNP	C	TCGA-SN-A84X-01A-11D-A435-10	105909237	153217373	2053187	81	6603											
SPEN	23013	mdanderson.org	37	chr1	16265332	16265332	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgcaggccaagcaggcGgcagggatcatcaacgttcc	10	6	12	13	2	2	0	2	0	0	0	3	1	3	1	3	4	4	4	3	4	3	2	rs138107503		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr1:16265332G>T	ENST00000375759.3	+	14	11028	c.10824G>T	c.(10822-10824)gcG>gcT	p.A3608A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3608	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCAAGCAGGCGGCAGGGATCA	0.592																																					p.A3608A													.	.			0			c.G10824T												146	110	122					1																	16265332		2203	4300	6503	SO:0001819	synonymous_variant	23013	exon14			GCAGGCGGCAGGG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10824G>T	1.37:g.16265332G>T			73	0	0		36	0.08	3	NM_015001	56	0	0	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																					0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025993.1		NM_015001		T	16265332	G	T	16265332	2	4	94	1	0	0	0	0	0	0	0	1	15061	1103	39	1		1	SPEN	1	16265332	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		16265332	232985289	1	6604											
EIF4G3	8672	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	21133864	21133864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacgtgaagaatgccGtgacagatttcagagccacg	12	6	12	11	3	1	5	1	2	0	3	1	5	1	5	3	0	3	1	3	0	2	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr1:21133864G>C	ENST00000264211.8	-	31	4900	c.4706C>G	c.(4705-4707)aCg>aGg	p.T1569R	EIF4G3_ENST00000536266.1_Missense_Mutation_p.T1173R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.T1575R|EIF4G3_ENST00000537738.1_Missense_Mutation_p.T1059R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.T1569R|EIF4G3_ENST00000374935.3_Missense_Mutation_p.T1289R|EIF4G3_ENST00000602326.1_Missense_Mutation_p.T1575R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1569	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	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)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GAAGAATGCCGTGACAGATTT	0.453																																					p.T1605R													.	.			0			c.C4814G												196	194	195					1																	21133864		2203	4300	6503	SO:0001583	missense	8672	exon35			AATGCCGTGACAG	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4706C>G	1.37:g.21133864G>C	ENSP00000264211:p.Thr1569Arg		273	0	0		272	0.13	36	NM_001198801	110	0.19	21	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434966	0.83885	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.6	5.6	0.85130	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.050239	0.85682	D	0.000000	D	0.90772	0.7103	M	0.66506	2.035	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.997;0.998	D;D;D;D;D	0.83275	0.996;0.991;0.981;0.966;0.974	D	0.91178	0.4974	10	0.87932	D	0	-10.8595	19.6136	0.95619	0.0:0.0:1.0:0.0	.	1764;1289;1173;1575;1569	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	R	1569;1765;1569;1289;1059;1575;1173	ENSP00000264211:T1569R;ENSP00000383274:T1569R;ENSP00000364071:T1289R;ENSP00000442010:T1059R;ENSP00000364073:T1575R;ENSP00000444693:T1173R	ENSP00000264211:T1569R	T	-	2	0	EIF4G3	21006451	1.000000	0.71417	0.948000	0.38648	0.972000	0.66771	9.835000	0.99442	2.641000	0.89580	0.585000	0.79938	ACG			0.453	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000007467.3		NM_003760		C	21133864	G	C	21133864	3	2	94	1	0	0	0	0	1	0	0	0	5045	1145	40	5	55	5	EIF4G3	1	21133864	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	4868532	21133864	228116757	2	6605											
WASF2	10163	broad.mit.edu	37	chr1	27736268	27736268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggtggtatcagaaagCggtggtggtatagcaggctg	8	10	18	5	1	1	1	1	0	0	1	1	1	1	1	0	7	2	5	0	7	4	4			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr1:27736268C>T	ENST00000430629.2	-	8	1472	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	419					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		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;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TATCAGAAAGCGGTGGTGGTA	0.612																																					p.P419P													.	WASF2	41		0			c.G1257A												75	71	72					1																	27736268		2203	4300	6503	SO:0001819	synonymous_variant	10163	exon8			AGAAAGCGGTGGT	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1257G>A	1.37:g.27736268C>T			276	0.0036231884	1		257	0.02	5	NM_006990	96	0	0	B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	CCDS304.1																																																																																					0.612	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009516.1		NM_006990		T	27736268	C	T	27736268	2	4	94	1	0	0	0	0	0	0	0	1	17277	755	27	1		1	WASF2	1	27736268	Silent	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	6602404	27736268	221514353	3	6606											
CELSR2	1952	mdanderson.org	37	chr1	109792751	109792751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacgccgccgccgccgcTgctgctgctgttgctgctgc	2	8	12	19	5	0	0	0	0	0	0	0	0	0	0	5	0	7	7	5	0	1	1	rs200277265		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr1:109792751T>C	ENST00000271332.3	+	1	111	c.50T>C	c.(49-51)cTg>cCg	p.L17P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	17					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ccgccgccgctgctgctgctg	0.751																																					p.L17P	NSCLC(158;1285 2011 34800 34852 42084)												CELSR2,colon,carcinoma,0,1	CELSR2	0	1	0			c.T50C												8	10	9					1																	109792751		1799	3668	5467	SO:0001583	missense	1952	exon1			CGCCGCTGCTGCT	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.50T>C	1.37:g.109792751T>C	ENSP00000271332:p.Leu17Pro		51	0	0		38	0.08	3	NM_001408	2	0	0	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	5.977	0.364215	0.11296	.	.	ENSG00000143126	ENST00000271332	T	0.70631	-0.5	4.25	-3.77	0.04346	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	8	0.51188	T	0.08	.	1.1702	0.01823	0.161:0.339:0.1649:0.3351	.	17	Q9HCU4	CELR2_HUMAN	P	17	ENSP00000271332:L17P	ENSP00000271332:L17P	L	+	2	0	CELSR2	109594274	0.000000	0.05858	0.003000	0.11579	0.062000	0.15995	-0.618000	0.05578	-0.422000	0.07405	0.404000	0.27445	CTG			0.751	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033200.1		NM_001408		C	109792751	T	C	109792751	3	2	94	1	0	0	0	0	1	0	0	0	3224	1580	55	4	52	4	CELSR2	1	109792751	Missense_Mutation	SNP	T	TCGA-SN-A84Y-01A-11D-A435-10	82056483	109792751	139457870	4	6607											
TPR	7175	broad.mit.edu	37	chr1	186295344	186295344	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcatcatcatcatcAtcttcctcatcctcttcata	9	17	0	15	0	11	0	8	0	3	0	13	0	13	0	2	0	0	0	2	0	1	4			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr1:186295344A>T	ENST00000367478.4	-	41	6209	c.5913T>A	c.(5911-5913)gaT>gaA	p.D1971E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1971	Poly-Asp.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.D1971E(2)|p.D1958E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		catcatcatcatcttcctcat	0.423			T	NTRK1	papillary thyroid																																p.D1971E				Dom	yes		1	1q25	7175	translocated promoter region		E	TPR_ENST00000367478,NS,carcinoma,0,2	TPR	441	2	3	Substitution - Missense(3)	prostate(3)	c.T5913A												89	85	86					1																	186295344		2060	4205	6265	SO:0001583	missense	7175	exon41			ATCATCATCTTCC	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5913T>A	1.37:g.186295344A>T	ENSP00000356448:p.Asp1971Glu		62	0.0161290323	1		103	0.04	4	NM_003292	218	0	0	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.380356	0.00205	.	.	ENSG00000047410	ENST00000367478	T	0.29917	1.55	4.03	-8.06	0.01102	.	1.066870	0.07167	N	0.851712	T	0.12347	0.0300	N	0.25890	0.77	0.21355	N	0.999713	B	0.02656	0.0	B	0.01281	0.0	T	0.25502	-1.0130	10	0.05351	T	0.99	.	2.0739	0.03619	0.2947:0.0732:0.2235:0.4085	.	1971	P12270	TPR_HUMAN	E	1971	ENSP00000356448:D1971E	ENSP00000356448:D1971E	D	-	3	2	TPR	184561967	0.017000	0.18338	0.023000	0.16930	0.542000	0.35054	-2.198000	0.01239	-4.545000	0.00043	-2.200000	0.00306	GAT			0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086353.2		NM_003292		T	186295344	A	T	186295344	3	4	94	1	0	0	0	0	1	0	0	0	16440	214	8	5	1222	5	TPR	1	186295344	Missense_Mutation	SNP	A	TCGA-SN-A84Y-01A-11D-A435-10	76502593	186295344	62955277	5	6608											
NT5C1B	93034	mdanderson.org	37	chr2	18766181	18766181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcccggacagcggcggcgGtgaggagtcatgcaggcttg	6	6	18	11	4	1	1	1	1	0	0	1	3	1	3	1	6	3	2	1	6	0	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr2:18766181G>T	ENST00000359846.2	-	5	579	c.502C>A	c.(502-504)Ccg>Acg	p.P168T	NT5C1B_ENST00000304081.4_Missense_Mutation_p.P108T|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P168T|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P168T	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	168	Pro-rich.|Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGCGGCGGCGGTGAGGAGTCA	0.716																																					p.P185T													.	.			0			c.C553A												12	20	17					2																	18766181		2050	4116	6166	SO:0001583	missense	93034	exon5			GCGGCGGTGAGGA	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.502C>A	2.37:g.18766181G>T	ENSP00000352904:p.Pro168Thr		26	0	0		19	0.11	2	NM_001199087	0		0	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848076	0.32699	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.90385	-2.66	4.22	0.855	0.19013	.	0.257949	0.20380	U	0.093479	D	0.82287	0.5004	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B;B	0.33103	0.397;0.067;0.118;0.397;0.009;0.11;0.124;0.204	B;B;B;B;B;B;B;B	0.32465	0.146;0.017;0.017;0.146;0.005;0.038;0.074;0.073	T	0.73319	-0.4020	10	0.87932	D	0	.	6.9756	0.24672	0.0:0.151:0.4081:0.4409	.	151;185;108;151;110;108;168;168	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	T	168;110;108;168;185	ENSP00000412639:P110T	ENSP00000305979:P108T	P	-	1	0	NT5C1B-RDH14;NT5C1B	18629662	0.023000	0.18921	0.000000	0.03702	0.044000	0.14063	2.314000	0.43743	0.001000	0.14605	0.467000	0.42956	CCG			0.716	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000323822.1				T	18766181	G	T	18766181	3	4	94	1	0	0	0	0	1	0	0	0	10703	1261	44	3	1354	3	NT5C1B	2	18766181	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		18766181	224433192	6	6609											
ANKRD36	375248	broad.mit.edu	37	chr2	97877455	97877455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatatggccacggaaaaaaAggatgaacaaatatctggga	19	6	11	5	1	1	1	0	1	1	0	1	5	1	4	1	4	1	0	1	4	8	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr2:97877455A>G	ENST00000461153.2	+	58	3690	c.3446A>G	c.(3445-3447)aAg>aGg	p.K1149R	ANKRD36_ENST00000420699.2_Missense_Mutation_p.K1149R			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1149										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ACGGAAAAAAAGGATGAACAA	0.348																																					p.K1149R													.	ANKRD36	170		0			c.A3446G												138	131	133					2																	97877455		692	1591	2283	SO:0001583	missense	375248	exon58			AAAAAAAGGATGA	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.3446A>G	2.37:g.97877455A>G	ENSP00000419530:p.Lys1149Arg		237	0.0042194093	1		429	0.02	7	NM_001164315	3	0	0	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702083	0.30232	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.79352	-1.26;-1.26	1.17	-0.222	0.13122	.	.	.	.	.	T	0.72526	0.3471	L	0.34521	1.04	0.09310	N	1	D	0.57571	0.98	P	0.57009	0.811	T	0.60276	-0.7295	9	0.31617	T	0.26	.	3.9247	0.09259	0.6124:0.3876:0.0:0.0	.	1149	A6QL64	AN36A_HUMAN	R	1149;1149;409	ENSP00000419530:K1149R;ENSP00000391950:K1149R	ENSP00000391950:K1149R	K	+	2	0	ANKRD36	97241182	0.125000	0.22332	0.001000	0.08648	0.005000	0.04900	1.780000	0.38634	-0.062000	0.13088	0.358000	0.22013	AAG			0.348	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339154.5				G	97877455	A	G	97877455	3	3	94	1	0	0	0	0	1	0	0	0	665	72	3	4	3676	4	ANKRD36	2	97877455	Missense_Mutation	SNP	A	TCGA-SN-A84Y-01A-11D-A435-10	79111274	97877455	145321918	7	6610											
GPR39	2863	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr2	133175132	133175132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcactgcccttgctgtttGccatgggtactgagtacccc	5	12	11	13	0	0	1	0	1	0	0	0	1	0	1	4	2	5	5	4	2	2	4			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr2:133175132G>T	ENST00000329321.3	+	1	986	c.517G>T	c.(517-519)Gcc>Tcc	p.A173S		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	173					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTGCTGTTTGCCATGGGTAC	0.637																																					p.A173S													.	.			0			c.G517T												78	67	70					2																	133175132		2203	4300	6503	SO:0001583	missense	2863	exon1			CTGTTTGCCATGG	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.517G>T	2.37:g.133175132G>T	ENSP00000327417:p.Ala173Ser		117	0	0		76	0.05	4	NM_001508	2	0	0	B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815893	0.90790	.	.	ENSG00000183840	ENST00000329321	T	0.72051	-0.62	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82688	0.5091	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.78084	-0.2342	10	0.22109	T	0.4	.	19.2005	0.93710	0.0:0.0:1.0:0.0	.	173	O43194	GPR39_HUMAN	S	173	ENSP00000327417:A173S	ENSP00000327417:A173S	A	+	1	0	GPR39	132891602	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.600000	0.67599	2.782000	0.95742	0.585000	0.79938	GCC			0.637	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254582.1				T	133175132	G	T	133175132	3	4	94	1	0	0	0	0	1	0	0	0	6707	1319	46	2	519	2	GPR39	2	133175132	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	35297677	133175132	110024241	8	6611											
TTN	7273	mdanderson.org	37	chr2	179477207	179477207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacaatgtagttggtgatgGgggaccctccatctttctca	8	12	10	11	0	2	1	1	1	2	0	4	2	3	2	3	3	0	2	3	3	2	3			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr2:179477207G>T	ENST00000591111.1	-	216	45346	c.45122C>A	c.(45121-45123)cCc>cAc	p.P15041H	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P14114H|TTN_ENST00000589042.1_Missense_Mutation_p.P16682H|TTN_ENST00000359218.5_Missense_Mutation_p.P7742H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7809H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7617H			Q8WZ42	TITIN_HUMAN	titin	15041	Fibronectin type-III 9. {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)			GTTGGTGATGGGGGACCCTCC	0.478																																					p.P16682H													.	.			0			c.C50045A												122	105	110					2																	179477207		1927	4141	6068	SO:0001583	missense	7273	exon266			GTGATGGGGGACC	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.45122C>A	2.37:g.179477207G>T	ENSP00000465570:p.Pro15041His		109	0	0		89	0.04	4	NM_001267550	1	0	0	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		.	.	.	.	.	.	.	.	.	.	G	11.42	1.632746	0.29068	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.71	5.71	0.89125	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80722	0.4677	M	0.87827	2.91	0.53005	D	0.999966	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	T	0.83303	-0.0027	9	0.87932	D	0	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	7617;7742;7809;15041	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	14114;7617;7809;7742;7617	ENSP00000343764:P14114H;ENSP00000434586:P7617H;ENSP00000340554:P7809H;ENSP00000352154:P7742H	ENSP00000340554:P7809H	P	-	2	0	TTN	179185452	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.653000	0.83643	2.697000	0.92050	0.563000	0.77884	CCC			0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		T	179477207	G	T	179477207	3	4	94	1	0	0	0	0	1	0	0	0	16759	1232	43	3	58036	3	TTN	2	179477207	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	46302075	179477207	63722166	9	6612											
FARSB	10056	broad.mit.edu	37	chr2	223488401	223488401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgcttcagtgaagccagCggctgccatgtcatgtcgga	9	9	13	10	2	2	1	2	1	0	0	3	2	2	2	2	2	4	2	2	2	2	1	rs531236483	byFrequency	TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr2:223488401C>T	ENST00000281828.6	-	13	1482	c.1219G>A	c.(1219-1221)Gct>Act	p.A407T	FARSB_ENST00000536361.1_Missense_Mutation_p.A308T	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	407					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTGAAGCCAGCGGCTGCCATG	0.378																																					p.A407T													FARSB,NS,carcinoma,0,1	FARSB	49	1	0			c.G1219A												104	108	107					2																	223488401		2203	4300	6503	SO:0001583	missense	10056	exon13			AGCCAGCGGCTGC	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1219G>A	2.37:g.223488401C>T	ENSP00000281828:p.Ala407Thr		482	0.0041493776	2		450	0.01	6	NM_005687	120	0	0	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553380	0.86127	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.11	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	H	0.96547	3.84	0.80722	D	1	D;D	0.59767	0.984;0.986	B;P	0.45913	0.29;0.497	T	0.81887	-0.0726	9	0.35671	T	0.21	-11.487	13.8461	0.63468	0.0:0.9257:0.0:0.0743	.	407;407	A8K666;Q9NSD9	.;SYFB_HUMAN	T	407;308	.	ENSP00000281828:A407T	A	-	1	0	FARSB	223196645	1.000000	0.71417	0.875000	0.34327	0.990000	0.78478	5.628000	0.67791	1.277000	0.44412	-0.142000	0.14014	GCT			0.378	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256855.2		NM_005687		T	223488401	C	T	223488401	3	4	94	1	0	0	0	0	1	0	0	0	5693	768	27	1	570	1	FARSB	2	223488401	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	44011194	223488401	19710972	10	6613											
NGEF	25791	ucsc.edu	37	chr2	233748732	233748732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagcaggtcgttgaacagGaagaggtaaatttcgtggaa	14	8	13	6	2	0	2	0	1	0	1	2	4	0	4	1	4	2	3	1	4	5	3			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr2:233748732G>T	ENST00000264051.3	-	11	1838	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	NGEF_ENST00000539537.1_Missense_Mutation_p.F243L|NGEF_ENST00000373552.4_Missense_Mutation_p.F428L	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	520	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		CGTTGAACAGGAAGAGGTAAA	0.612																																					p.F520L													.	NGEF	198		0			c.C1560A												103	95	97					2																	233748732		2203	4300	6503	SO:0001583	missense	25791	exon11			GAACAGGAAGAGG	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.1560C>A	2.37:g.233748732G>T	ENSP00000264051:p.Phe520Leu		83	0	0		41	0.1	4	NM_019850	131	0	0	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.060269|3.060269	0.55432|0.55432	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537|ENST00000424488	D;D;D|.	0.90844|.	-2.74;-2.74;-2.74|.	5.11|5.11	3.31|3.31	0.37934|0.37934	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62085|0.62085	0.2399|0.2399	L|L	0.60904|0.60904	1.88|1.88	0.80722|0.80722	D|D	1|1	B;D|.	0.69078|.	0.22;0.997|.	B;D|.	0.75020|.	0.074;0.985|.	T|T	0.57682|0.57682	-0.7769|-0.7769	10|5	0.32370|.	T|.	0.25|.	-37.3361|-37.3361	11.4244|11.4244	0.50001|0.50001	0.1477:0.0:0.8523:0.0|0.1477:0.0:0.8523:0.0	.|.	428;520|.	E9PC42;Q8N5V2|.	.;NGEF_HUMAN|.	L|Y	520;428;410;243|112	ENSP00000264051:F520L;ENSP00000362653:F428L;ENSP00000439035:F243L|.	ENSP00000264051:F520L|.	F|S	-|-	3|2	2|0	NGEF|NGEF	233456976|233456976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	4.633000|4.633000	0.61318|0.61318	0.553000|0.553000	0.29044|0.29044	-0.140000|-0.140000	0.14226|0.14226	TTC|TCC			0.612	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000257051.2		XM_044799		T	233748732	G	T	233748732	3	4	94	1	0	0	0	0	1	0	0	0	10411	1165	41	3	592	3	NGEF	2	233748732	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	10260331	233748732	9450641	11	6614											
HRH1	3269	mdanderson.org	37	chr3	11301767	11301767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggccagcgagatatcagaGgatcagatgttaggtgatag	12	8	16	5	1	2	4	2	1	0	3	2	6	2	5	1	4	1	1	1	4	3	3			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr3:11301767G>T	ENST00000397056.1	+	3	1235	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D	HRH1_ENST00000438284.2_Missense_Mutation_p.E348D|HRH1_ENST00000431010.2_Missense_Mutation_p.E348D	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	348					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)	AGATATCAGAGGATCAGATGT	0.537																																					p.E348D													.	.			0			c.G1044T												127	109	115					3																	11301767		2203	4300	6503	SO:0001583	missense	3269	exon3			ATCAGAGGATCAG		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.1044G>T	3.37:g.11301767G>T	ENSP00000380247:p.Glu348Asp		93	0	0		69	0.06	4	NM_000861	1	0	0	A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	8.917	0.960133	0.18507	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.66815	-0.23;-0.23;-0.23	6.08	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.275746	0.39985	N	0.001206	T	0.50718	0.1632	N	0.25890	0.77	0.31390	N	0.677979	B	0.10296	0.003	B	0.17722	0.019	T	0.50634	-0.8805	10	0.18276	T	0.48	-13.2542	11.7324	0.51746	0.0697:0.1958:0.7345:0.0	.	348	P35367	HRH1_HUMAN	D	348	ENSP00000406705:E348D;ENSP00000397028:E348D;ENSP00000380247:E348D	ENSP00000380247:E348D	E	+	3	2	HRH1	11276767	0.919000	0.31177	0.860000	0.33809	0.022000	0.10575	0.484000	0.22308	1.586000	0.49944	0.655000	0.94253	GAG			0.537	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251928.2				T	11301767	G	T	11301767	3	4	94	1	0	0	0	0	1	0	0	0	7370	991	35	3	1046	3	HRH1	3	11301767	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		11301767	186720663	12	6615											
CDC25A	993	mdanderson.org	37	chr3	48229409	48229409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgaagagcaggcggcggCggtgcgggggctccgggccc	5	2	22	12	6	0	1	0	0	0	1	1	2	1	1	2	8	2	2	2	8	1	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr3:48229409C>T	ENST00000302506.3	-	1	437	c.29G>A	c.(28-30)cGc>cAc	p.R10H	CDC25A_ENST00000351231.3_Missense_Mutation_p.R10H	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	10				EPPHR -> SPAP (in Ref. 1; AAA58415). {ECO:0000305}.	cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAGGCGGCGGCGGTGCGGGGG	0.766																																					p.R10H													.	.			0			c.G29A												3	4	4					3																	48229409		1718	3386	5104	SO:0001583	missense	993	exon1			CGGCGGCGGTGCG	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.29G>A	3.37:g.48229409C>T	ENSP00000303706:p.Arg10His		33	0	0		23	0.09	2	NM_201567	47	0	0	Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450179	0.63290	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342;ENST00000437972	T;T;T;T	0.54279	2.26;2.09;1.62;0.58	3.96	3.96	0.45880	.	0.386006	0.24645	N	0.036761	T	0.44498	0.1296	N	0.16368	0.405	0.38290	D	0.942688	D;D	0.59767	0.979;0.986	P;B	0.50270	0.636;0.432	T	0.54470	-0.8289	10	0.72032	D	0.01	.	11.6876	0.51497	0.0:1.0:0.0:0.0	.	10;10	P30304-2;P30304	.;MPIP1_HUMAN	H	10	ENSP00000303706:R10H;ENSP00000343166:R10H;ENSP00000416483:R10H;ENSP00000404285:R10H	ENSP00000303706:R10H	R	-	2	0	CDC25A	48204413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.398000	0.52579	2.184000	0.69523	0.555000	0.69702	CGC			0.766	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257512.2		NM_001789		T	48229409	C	T	48229409	3	4	94	1	0	0	0	0	1	0	0	0	3064	768	27	1	1605	1	CDC25A	3	48229409	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	36927642	48229409	149793021	13	6616											
GLYCTK	132158	mdanderson.org	37	chr3	52326751	52326751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggaggaggctctggagaCcatggcatggggaaggggcc	8	5	20	8	0	1	1	0	0	1	1	1	5	1	4	2	9	0	3	2	9	1	0	rs9813489	byFrequency	TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr3:52326751C>A	ENST00000436784.2	+	5	1241	c.1181C>A	c.(1180-1182)aCc>aAc	p.T394N	GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000461183.1_Intron|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase	394			T -> I (in dbSNP:rs9813489).		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)		GCTCTGGAGACCATGGCATGG	0.652																																					p.T394N													.	.			0			c.C1181A												36	40	39					3																	52326751		2203	4300	6503	SO:0001583	missense	132158	exon5			TGGAGACCATGGC		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.1181C>A	3.37:g.52326751C>A	ENSP00000389175:p.Thr394Asn		51	0	0		40	0.08	3	NM_145262	29	0	0	Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.245071	0.01481	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.54279	0.58	5.85	2.13	0.27403	.	0.284540	0.40222	N	0.001144	T	0.28101	0.0693	N	0.08118	0	0.38748	D	0.954045	B	0.23806	0.091	B	0.27262	0.078	T	0.06144	-1.0843	9	.	.	.	-0.1724	8.2245	0.31560	0.0:0.6979:0.1132:0.1889	.	394	Q8IVS8	GLCTK_HUMAN	N	394;328	ENSP00000389175:T394N	.	T	+	2	0	GLYCTK	52301791	0.844000	0.29557	0.031000	0.17742	0.003000	0.03518	1.555000	0.36277	0.113000	0.18004	-0.819000	0.03115	ACC			0.652	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350835.1		NM_145262		A	52326751	C	A	52326751	3	1	94	1	0	0	0	0	1	0	0	0	6496	507	18	3	1195	3	GLYCTK	3	52326751	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	4097342	52326751	145695679	14	6617											
STAB1	23166	mdanderson.org	37	chr3	52545761	52545761	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggcggctgccacggcctGgtaagggggtgcaaggctca	8	6	17	10	2	1	0	1	0	0	0	1	0	1	0	2	7	2	4	2	7	3	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr3:52545761G>T	ENST00000321725.6	+	26	2959	c.2883G>T	c.(2881-2883)ctG>ctT	p.L961L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	961	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				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)		GCCACGGCCTGGTAAGGGGGT	0.662																																					p.L961L													.	.			0			c.G2883T												18	15	16					3																	52545761		2193	4294	6487	SO:0001630	splice_region_variant	23166	exon26			CGGCCTGGTAAGG	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.2883+1G>T	3.37:g.52545761G>T			74	0	0		41	0.07	3	NM_015136	0		0	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																					0.662	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351380.2		NM_015136	Silent	T	52545761	G	T	52545761	5	4	94	1	0	0	0	0	0	0	1	0	15260	1362	47	3	2985	3	STAB1	3	52545761	Splice_Site	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	219010	52545761	145476669	15	6618											
ACTR8	93973	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	53905293	53905293	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggaggatggctttatcCaggcccagggcttttccttc	6	13	11	11	0	0	0	0	0	0	0	3	2	2	2	3	5	0	2	3	5	2	6	rs371208984		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr3:53905293C>G	ENST00000335754.3	-	11	1633	c.1533G>C	c.(1531-1533)ctG>ctC	p.L511L	ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Silent_p.L400L|ACTR8_ENST00000231909.7_Silent_p.L216L	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	511					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGGCTTTATCCAGGCCCAGGG	0.512																																					p.L511L													.	ACTR8	56		0			c.G1533C												95	94	94					3																	53905293		2203	4300	6503	SO:0001819	synonymous_variant	93973	exon11			TTTATCCAGGCCC		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1533G>C	3.37:g.53905293C>G			208	0	0		164	0.07	12	NM_022899	77	0.03	2	B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	8.916	0.959926	0.18507	.	.	ENSG00000113812	ENST00000486794	.	.	.	5.67	2.73	0.32206	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	3.2025	8.9246	0.35632	0.4035:0.3834:0.2131:0.0	.	.	.	.	S	265	.	.	W	-	2	0	ACTR8	53880333	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.365000	0.20348	0.247000	0.21414	0.655000	0.94253	TGG			0.512	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350562.2		NM_022899		G	53905293	C	G	53905293	2	3	94	1	0	0	0	0	0	0	0	1	217	581	21	5		5	ACTR8	3	53905293	Silent	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	1359532	53905293	144117137	16	6619											
IMPG2	50939	mdanderson.org	37	chr3	100963001	100963001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagagattgctacagatGtcagtataagaggtgctttg	12	11	13	5	0	1	3	1	0	0	3	1	4	1	3	0	2	3	4	0	2	3	5			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr3:100963001G>T	ENST00000193391.7	-	13	2361	c.2174C>A	c.(2173-2175)aCa>aAa	p.T725K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	725					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TGCTACAGATGTCAGTATAAG	0.438																																					p.T725K													.	.			0			c.C2174A												81	68	72					3																	100963001		2203	4300	6503	SO:0001583	missense	50939	exon13			ACAGATGTCAGTA	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2174C>A	3.37:g.100963001G>T	ENSP00000193391:p.Thr725Lys		79	0	0		75	0.05	4	NM_016247	0		0	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	1.017	-0.686200	0.03328	.	.	ENSG00000081148	ENST00000193391	T	0.22945	1.93	4.74	2.78	0.32641	.	0.431414	0.22309	N	0.061742	T	0.13457	0.0326	N	0.24115	0.695	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.27500	0.08;0.056	T	0.16988	-1.0384	10	0.23302	T	0.38	-0.0206	8.9804	0.35961	0.0803:0.0:0.774:0.1457	.	725;725	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	725	ENSP00000193391:T725K	ENSP00000193391:T725K	T	-	2	0	IMPG2	102445691	0.011000	0.17503	0.005000	0.12908	0.265000	0.26407	0.718000	0.25866	1.330000	0.45394	0.561000	0.74099	ACA			0.438	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353256.3				T	100963001	G	T	100963001	3	4	94	1	0	0	0	0	1	0	0	0	7744	1377	48	3	1579	3	IMPG2	3	100963001	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	47057708	100963001	97059429	17	6620											
KLF3	51274	mdanderson.org	37	chr4	38696516	38696516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgaaagcacacagaaGaacacacacaggtaatagaa	20	4	7	10	0	0	4	0	1	0	3	0	4	0	4	1	1	2	2	1	1	6	3			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr4:38696516G>T	ENST00000261438.5	+	5	1150	c.845G>T	c.(844-846)aGa>aTa	p.R282I		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	282					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GCACACAGAAGAACACACACA	0.408																																					p.R282I													.	.			0			c.G845T												104	92	96					4																	38696516		2203	4300	6503	SO:0001583	missense	51274	exon5			ACAGAAGAACACA	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.845G>T	4.37:g.38696516G>T	ENSP00000261438:p.Arg282Ile		77	0	0		34	0.09	3	NM_016531	16	0	0	Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374294	0.95923	.	.	ENSG00000109787	ENST00000261438	T	0.24908	1.83	6.17	6.17	0.99709	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	0.56891	0.2016	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.55866	-0.8073	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	282	P57682	KLF3_HUMAN	I	282	ENSP00000261438:R282I	ENSP00000261438:R282I	R	+	2	0	KLF3	38372911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	AGA			0.408	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215093.2				T	38696516	G	T	38696516	3	4	94	1	0	0	0	0	1	0	0	0	8362	942	33	3	859	3	KLF3	4	38696516	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		38696516	152457760	18	6621											
FRAS1	80144	mdanderson.org	37	chr4	79284686	79284686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgccatcacctgtgccaGcactgtgcagctgatctcca	8	9	9	15	0	2	1	1	1	1	0	3	2	2	1	4	0	5	3	4	0	0	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr4:79284686G>A	ENST00000325942.6	+	21	2882	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	FRAS1_ENST00000264895.6_Silent_p.Q814Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	814					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						ACCTGTGCCAGCACTGTGCAG	0.587																																					p.Q814Q													.	.			0			c.G2442A												40	40	40					4																	79284686		2117	4242	6359	SO:0001819	synonymous_variant	80144	exon21			GTGCCAGCACTGT	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.2442G>A	4.37:g.79284686G>A			57	0	0		44	0.07	3	NM_025074	1	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1																																																																																					0.587	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000362706.2				A	79284686	G	A	79284686	2	1	94	1	0	0	0	0	0	0	0	1	6055	962	34	2		2	FRAS1	4	79284686	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	40588170	79284686	111869590	19	6622											
MAML3	55534	hgsc.bcm.edu	37	chr4	140811125	140811125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgttGctgttgctgtttctgctgca	1	17	12	11	0	1	0	0	0	1	0	1	0	1	0	0	0	9	12	0	0	0	3	rs62344940		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr4:140811125G>T	ENST00000509479.2	-	2	2321	c.1465C>A	c.(1465-1467)Caa>Aaa	p.Q489K	MAML3_ENST00000398940.1_Missense_Mutation_p.Q28K|MAML3_ENST00000327122.5_Missense_Mutation_p.Q333K	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					tgctgctgttgctgttgctgt	0.552																																					p.Q489K													MAML3_ENST00000509479,colon,carcinoma,+2,2	MAML3_ENST00000509479	2	2	0			c.C1465A												17	20	19					4																	140811125		2194	4294	6488	SO:0001583	missense	55534	exon2			GCTGTTGCTGTTG	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1465C>A	4.37:g.140811125G>T	ENSP00000421180:p.Gln489Lys		68	0.0294117647	2		52	0.15	8	NM_018717	4	0	0		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	3.000	-0.206260	0.06180	.	.	ENSG00000196782	ENST00000509479;ENST00000327122;ENST00000398940	T;T	0.76448	0.83;-1.02	2.61	2.61	0.31194	.	0.000000	0.64402	D	0.000001	T	0.66607	0.2806	N	0.08118	0	0.31344	N	0.683255	P	0.43392	0.805	P	0.59424	0.857	T	0.64106	-0.6485	10	0.05436	T	0.98	.	8.8799	0.35367	0.0:0.0:1.0:0.0	rs62344940	489	Q96JK9	MAML3_HUMAN	K	489;333;28	ENSP00000421180:Q489K;ENSP00000313316:Q333K	ENSP00000313316:Q333K	Q	-	1	0	MAML3	141030575	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.291000	0.51764	1.788000	0.52465	0.484000	0.47621	CAA			0.552	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364934.2				T	140811125	G	T	140811125	3	4	94	1	0	0	0	0	1	0	0	0	9223	1328	46	2	1959	2	MAML3	4	140811125	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	61526439	140811125	50343151	20	6623											
GAB1	2549	mdanderson.org	37	chr4	144378923	144378923	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgctacaagaagaaaggGtatgtactttagcaccgcat	13	11	9	8	1	0	2	0	0	0	2	0	2	0	2	1	1	4	5	1	1	7	6			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr4:144378923G>T	ENST00000262994.4	+	7	1887				GAB1_ENST00000505913.1_Intron|GAB1_ENST00000262995.4_Splice_Site	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1						activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AGAAGAAAGGGTATGTACTTT	0.338																																					.													.	.			0			c.1675+1G>T												60	54	56					4																	144378923		2203	4300	6503	SO:0001627	intron_variant	2549	exon7			GAAAGGGTATGTA	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1586-1615G>T	4.37:g.144378923G>T			42	0	0		47	0.06	3	NM_207123	0		0	A8K152|Q4W5G2|Q6P1W2	Splice_Site	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302895	0.81136	.	.	ENSG00000109458	ENST00000262995	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4037	0.90526	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAB1	144598373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.199000	0.95003	2.345000	0.79718	0.655000	0.94253	.			0.338	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000364998.1		NM_002039		T	144378923	G	T	144378923	1	4	94	0	1	0	0	0	0	0	0	0	6161	1275	44	3		3	GAB1	4	144378923	Intron	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	3567798	144378923	46775353	21	6624											
CLCN3	1182	mdanderson.org	37	chr4	170557224	170557224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatgacaatttattagatGgtgacactgcagttggtaag	14	12	11	4	0	0	4	0	2	0	2	0	4	0	4	0	2	1	3	0	2	5	5			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr4:170557224G>T	ENST00000513761.1	+	2	704	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C	CLCN3_ENST00000506924.1_3'UTR|CLCN3_ENST00000360642.3_Missense_Mutation_p.G49C|CLCN3_ENST00000504131.2_Start_Codon_SNP_p.M1I|CLCN3_ENST00000347613.4_Missense_Mutation_p.G49C	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	49					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)		TTTATTAGATGGTGACACTGC	0.333																																					p.G49C													.	.			0			c.G145T												108	104	106					4																	170557224		2203	4300	6503	SO:0001583	missense	1182	exon2			TTAGATGGTGACA	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.145G>T	4.37:g.170557224G>T	ENSP00000424603:p.Gly49Cys		33	0	0		45	0.07	3	NM_001243372	9	0	0	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.57|14.57	2.574668|2.574668	0.45902|0.45902	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000511092;ENST00000513761;ENST00000347613;ENST00000360642;ENST00000512813;ENST00000538301|ENST00000504131	D;D;D;D;D|D	0.91631|0.88124	-2.88;-2.47;-2.49;-2.45;-2.41|-2.34	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.359480|.	0.31031|.	N|.	0.008385|.	T|T	0.79678|0.79678	0.4487|0.4487	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;D;D|B	0.65815|0.17038	0.97;0.97;0.995|0.02	P;P;P|B	0.55303|0.12156	0.502;0.619;0.773|0.007	T|T	0.73285|0.73285	-0.4031|-0.4031	10|9	0.56958|0.39692	D|T	0.05|0.17	-9.7539|-9.7539	19.2378|19.2378	0.93867|0.93867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	49;49;49|1	B7Z932;P51790;P51790-2|B9EGJ9	.;CLCN3_HUMAN;.|.	C|I	49|1	ENSP00000425160:G49C;ENSP00000424603:G49C;ENSP00000261514:G49C;ENSP00000353857:G49C;ENSP00000425823:G49C|ENSP00000424540:M1I	ENSP00000261514:G49C|ENSP00000424540:M1I	G|M	+|+	1|3	0|0	CLCN3|CLCN3	170793799|170793799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	9.160000|9.160000	0.94734|0.94734	2.622000|2.622000	0.88805|0.88805	0.563000|0.563000	0.77884|0.77884	GGT|ATG			0.333	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000363210.2				T	170557224	G	T	170557224	3	4	94	1	0	0	0	0	1	0	0	0	3466	1348	47	3	147	3	CLCN3	4	170557224	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	26178301	170557224	20597052	22	6625											
GALNT7	51809	mdanderson.org	37	chr4	174169131	174169131	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcccctcccttttgtatagGaagacagagatgtcaatgac	12	11	8	10	0	1	3	1	1	0	2	3	5	3	4	3	1	0	1	3	1	4	4			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr4:174169131G>T	ENST00000265000.4	+	2	210	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	GALNT7_ENST00000512285.1_Splice_Site_p.E43*	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	43					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)		TTTTGTATAGGAAGACAGAGA	0.483																																					p.E43X													.	.			0			c.G127T												48	47	47					4																	174169131		2203	4300	6503	SO:0001630	splice_region_variant	51809	exon2			GTATAGGAAGACA	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.127-1G>T	4.37:g.174169131G>T			51	0	0		43	0.07	3	NM_017423	24	0	0	B3KQU3|Q7Z5W7|Q9UJ28	Nonsense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437148	0.96168	.	.	ENSG00000109586	ENST00000265000;ENST00000512285	.	.	.	5.7	5.7	0.88788	.	2.038100	0.02546	N	0.095138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	.	E	+	1	0	GALNT7	174405706	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.136000	0.58004	2.683000	0.91414	0.655000	0.94253	GAA			0.483	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362456.2		NM_017423	Nonsense_Mutation	T	174169131	G	T	174169131	5	4	94	1	0	0	0	0	0	0	1	0	6232	1188	41	3	133	3	GALNT7	4	174169131	Splice_Site	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	3611907	174169131	16985145	23	6626											
TRIP13	9319	mdanderson.org	37	chr5	893132	893132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacgaggccgtgggcGacctgaagcaggcgcttccc	7	5	15	14	4	0	1	0	1	0	0	1	4	1	2	4	4	1	2	4	4	1	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr5:893132G>T	ENST00000166345.3	+	1	375	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	BRD9_ENST00000467963.1_5'Flank|BRD9_ENST00000435709.2_5'Flank|BRD9_ENST00000483173.1_5'Flank	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	7					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GGCCGTGGGCGACCTGAAGCA	0.726																																					p.D7Y													.	.			0			c.G19T												14	14	14					5																	893132		2163	4268	6431	SO:0001583	missense	9319	exon1			GTGGGCGACCTGA	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.19G>T	5.37:g.893132G>T	ENSP00000166345:p.Asp7Tyr		68	0	0		52	0.06	3	NM_001166260	45	0	0	C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321123	0.41096	.	.	ENSG00000071539	ENST00000166345;ENST00000354240	D	0.95171	-3.63	3.93	3.93	0.45458	.	0.366479	0.27113	N	0.020867	D	0.88470	0.6445	N	0.22421	0.69	0.45676	D	0.998593	P	0.44090	0.826	B	0.35510	0.204	D	0.90106	0.4188	10	0.72032	D	0.01	-3.8916	14.5079	0.67764	0.0:0.0:1.0:0.0	.	7	Q15645	PCH2_HUMAN	Y	7	ENSP00000166345:D7Y	ENSP00000166345:D7Y	D	+	1	0	TRIP13	946132	0.843000	0.29541	1.000000	0.80357	0.642000	0.38348	4.395000	0.59678	1.737000	0.51674	0.297000	0.19635	GAC			0.726	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206721.2		NM_004237		T	893132	G	T	893132	3	4	94	1	0	0	0	0	1	0	0	0	16581	1058	37	1	21	1	TRIP13	5	893132	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		893132	180022128	24	6627											
SPZ1	84654	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	79616895	79616895	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actcttggaaataatggagtCggtttccaaacccagccaaa	14	9	8	10	1	1	0	0	0	1	0	3	2	2	2	3	3	2	1	3	3	4	3	rs536377169	byFrequency	TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr5:79616895C>G	ENST00000296739.4	+	1	1106	c.861C>G	c.(859-861)gtC>gtG	p.V287V		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	287					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ATAATGGAGTCGGTTTCCAAA	0.413																																					p.V287V													.	SPZ1	60		0			c.C861G												96	92	93					5																	79616895		1853	4098	5951	SO:0001819	synonymous_variant	84654	exon1			TGGAGTCGGTTTC		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.861C>G	5.37:g.79616895C>G			232	0.0129310345	3		327	0.27	88	NM_032567	5	0.4	2	B2RA21|Q8N4P1|Q8N7E9	Silent	SNP	ENST00000296739.4	37	CCDS43336.1																																																																																					0.413	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369322.1		NM_032567		G	79616895	C	G	79616895	2	3	94	1	0	0	0	0	0	0	0	1	15150	871	31	5		5	SPZ1	5	79616895	Silent	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	78723763	79616895	101298365	25	6628											
UNC5A	90249	broad.mit.edu	37	chr5	176295152	176295152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccaccatggaggtccGcattaatgtctcaaggcagc	9	8	11	13	1	1	0	1	0	1	0	3	1	2	1	3	3	2	3	3	3	2	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr5:176295152G>T	ENST00000329542.4	+	3	588	c.314G>T	c.(313-315)cGc>cTc	p.R105L	UNC5A_ENST00000261961.3_Missense_Mutation_p.R65L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	105	Ig-like.				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)			ATGGAGGTCCGCATTAATGTC	0.642																																					p.R105L													.	UNC5A	76		0			c.G314T												118	114	115					5																	176295152		2203	4300	6503	SO:0001583	missense	90249	exon3			AGGTCCGCATTAA	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.314G>T	5.37:g.176295152G>T	ENSP00000332737:p.Arg105Leu		144	0	0		159	0.04	6	NM_133369	2	0	0	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	9.014	0.983164	0.18889	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.20463	2.07;2.07	5.13	4.25	0.50352	Immunoglobulin-like fold (1);	0.083387	0.53938	D	0.000048	T	0.21387	0.0515	L	0.40543	1.245	0.30070	N	0.810151	P;B;P	0.45126	0.658;0.051;0.851	B;B;P	0.47299	0.343;0.051;0.543	T	0.04915	-1.0918	10	0.27785	T	0.31	-29.9644	9.5531	0.39321	0.1643:0.0:0.8357:0.0	.	65;105;105	Q6ZN44-3;Q6ZN44;Q6ZN44-2	.;UNC5A_HUMAN;.	L	105;65	ENSP00000332737:R105L;ENSP00000261961:R65L	ENSP00000261961:R65L	R	+	2	0	UNC5A	176227758	0.974000	0.33945	0.933000	0.37362	0.168000	0.22595	2.983000	0.49345	1.148000	0.42385	0.491000	0.48974	CGC			0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372166.1		XM_030300		T	176295152	G	T	176295152	3	4	94	1	0	0	0	0	1	0	0	0	17015	1087	38	1	324	1	UNC5A	5	176295152	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	96678257	176295152	4620108	26	6629											
UBR2	23304	broad.mit.edu	37	chr6	42615876	42615876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaacaaggagactggcatGgagagtgtaatcgaagcagt	15	6	15	5	1	0	3	0	0	0	3	1	7	0	3	0	3	2	3	0	3	4	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr6:42615876G>T	ENST00000372899.1	+	22	2688	c.2430G>T	c.(2428-2430)atG>atT	p.M810I	UBR2_ENST00000372901.1_Missense_Mutation_p.M810I|UBR2_ENST00000372883.3_Missense_Mutation_p.M314I	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	810					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGACTGGCATGGAGAGTGTAA	0.358																																					p.M810I													.	UBR2	134		0			c.G2430T												274	243	254					6																	42615876		2203	4300	6503	SO:0001583	missense	23304	exon22			TGGCATGGAGAGT	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2430G>T	6.37:g.42615876G>T	ENSP00000361990:p.Met810Ile		153	0	0		299	0.01	4	NM_015255	42	0	0	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199192	0.79015	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.48201	0.82;0.82;0.82	5.83	5.83	0.93111	.	0.042773	0.85682	D	0.000000	T	0.24812	0.0602	N	0.17379	0.485	0.80722	D	1	P;B	0.38827	0.649;0.01	B;B	0.36567	0.228;0.017	T	0.08868	-1.0701	10	0.45353	T	0.12	-35.5827	20.126	0.97982	0.0:0.0:1.0:0.0	.	810;810	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	I	810;810;314	ENSP00000361990:M810I;ENSP00000361992:M810I;ENSP00000361974:M314I	ENSP00000361974:M314I	M	+	3	0	UBR2	42723854	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.209000	0.95087	2.749000	0.94314	0.655000	0.94253	ATG			0.358	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040558.2		NM_015255		T	42615876	G	T	42615876	3	4	94	1	0	0	0	0	1	0	0	0	16926	1348	47	3	2662	3	UBR2	6	42615876	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		42615876	128499191	27	6630											
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	82582694	82582694	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggggtgtatatctgttggTttttgtgtagttgttggaag	5	20	15	1	0	1	0	0	0	1	0	1	1	1	1	0	4	0	6	0	4	4	9			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr7:82582694T>G	ENST00000333891.9	-	5	7912	c.7575A>C	c.(7573-7575)aaA>aaC	p.K2525N	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.K2525N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K2525K(2)|p.K2456K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATCTGTTGGTTTTTGTGTAG	0.433																																					p.K2525N													Q9Y6V0-3,rectum,carcinoma,0,3	Q9Y6V0-3	0	3	3	Substitution - coding silent(3)	large_intestine(3)	c.A7575C												107	104	105					7																	82582694		1922	4131	6053	SO:0001583	missense	27445	exon5			TGTTGGTTTTTGT	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.7575A>C	7.37:g.82582694T>G	ENSP00000334319:p.Lys2525Asn		100	0	0		110	0.3	33	NM_014510	0		0		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	5.801	0.332093	0.10956	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.26;2.25	4.66	0.812	0.18744	.	.	.	.	.	T	0.19805	0.0476	L	0.47716	1.5	0.80722	D	1	P;P	0.48016	0.904;0.904	P;P	0.48227	0.571;0.571	T	0.03034	-1.1080	9	0.87932	D	0	.	9.2895	0.37778	0.0:0.3259:0.0:0.6741	.	2525;2525	Q9Y6V0-5;Q9Y6V0-6	.;.	N	2456;2525;2525	ENSP00000334319:K2525N;ENSP00000388393:K2525N	ENSP00000334319:K2525N	K	-	3	2	PCLO	82420630	0.998000	0.40836	0.989000	0.46669	0.808000	0.45660	0.953000	0.29162	0.182000	0.20032	0.397000	0.26171	AAA			0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337368.5		NM_014510		G	82582694	T	G	82582694	3	3	94	1	0	0	0	0	1	0	0	0	11600	1722	60	4	7954	4	PCLO	7	82582694	Missense_Mutation	SNP	T	TCGA-SN-A84Y-01A-11D-A435-10		82582694	76555969	28	6631											
SSPO	23145	mdanderson.org	37	chr7	149483303	149483303	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcctcaccctgctctGggatggagatcaggcccctg	5	8	13	15	0	3	1	2	0	1	1	3	3	3	2	5	4	1	1	5	4	0	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr7:149483303G>T	ENST00000378016.2	+	0	3371							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.W374L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCTGCTCTGGGATGGAGAT	0.637																																					p.W1124L													Q76B61_HUMAN,colon,carcinoma,-1,2	Q76B61_HUMAN	-1	2	1	Substitution - Missense(1)	large_intestine(1)	c.G3371T												29	34	33					7																	149483303		2133	4222	6355			23145	exon23			TGCTCTGGGATGG	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.149483303G>T			62	0	0		38	0.08	3	NM_198455	0		0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						T	149483303	G	T	149483303	1	4	94	0	1	0	0	0	0	0	0	0	15212	1357	47	3		3	SSPO	7	149483303	RNA	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	66900609	149483303	9655360	29	6632											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24256526	24256526	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttctaacctggggaaaaAgatccacgaccatgctcagc	13	7	9	12	1	2	1	1	0	1	1	3	3	3	2	3	2	3	2	3	2	3	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr8:24256526A>G	ENST00000256412.4	+	9	1122	c.902A>G	c.(901-903)aAg>aGg	p.K301R	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.K222R|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.K222R|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	301	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)		CTGGGGAAAAAGATCCACGAC	0.512																																					p.K301R	Ovarian(147;687 1849 3699 25981 31337)												.	ADAMDEC1	69		0			c.A902G												94	83	87					8																	24256526		2203	4300	6503	SO:0001583	missense	27299	exon9			GGAAAAAGATCCA	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.902A>G	8.37:g.24256526A>G	ENSP00000256412:p.Lys301Arg		127	0	0		173	0.02	4	NM_014479	2	0	0	B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452705	0.26074	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.64438	-0.1;-0.1;-0.1	5.88	1.26	0.21427	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.263595	0.33023	N	0.005363	T	0.56587	0.1995	L	0.45352	1.415	0.09310	N	1	B	0.28512	0.214	P	0.48982	0.597	T	0.52139	-0.8615	10	0.05620	T	0.96	-7.9251	3.1732	0.06560	0.5029:0.0:0.3057:0.1914	.	301	O15204	ADEC1_HUMAN	R	301;222;222	ENSP00000256412:K301R;ENSP00000442592:K222R;ENSP00000428993:K222R	ENSP00000256412:K301R	K	+	2	0	ADAMDEC1	24312471	0.000000	0.05858	0.019000	0.16419	0.440000	0.31957	-0.750000	0.04808	-0.039000	0.13602	0.533000	0.62120	AAG			0.512	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215149.2		NM_014479		G	24256526	A	G	24256526	3	3	94	1	0	0	0	0	1	0	0	0	254	72	3	4	936	4	ADAMDEC1	8	24256526	Missense_Mutation	SNP	A	TCGA-SN-A84Y-01A-11D-A435-10		24256526	122107496	30	6633											
ADAM2	2515	broad.mit.edu	37	chr8	39678591	39678591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattatataaggaaacatctGctttcttatgttttacttgg	11	18	6	6	0	2	0	0	0	2	0	2	1	2	1	0	2	3	2	0	2	6	8	rs553158681		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr8:39678591G>T	ENST00000265708.4	-	6	546	c.443C>A	c.(442-444)gCa>gAa	p.A148E	ADAM2_ENST00000379853.2_Missense_Mutation_p.A148E|ADAM2_ENST00000347580.4_Missense_Mutation_p.A148E|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.A148E	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	148					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGAAACATCTGCTTTCTTATG	0.348																																					p.A148E													.	ADAM2	124		0			c.C443A												80	80	80					8																	39678591		2203	4297	6500	SO:0001583	missense	2515	exon6			ACATCTGCTTTCT	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.443C>A	8.37:g.39678591G>T	ENSP00000265708:p.Ala148Glu		100	0	0		273	0.02	6	NM_001464	0		0	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	0.345	-0.948041	0.02304	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02158	5.02;4.42;5.25;5.22	5.47	-0.0675	0.13760	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.003;0.005;0.005;0.003	B;B;B;B	0.20577	0.009;0.021;0.03;0.009	T	0.49854	-0.8895	8	.	.	.	.	8.7807	0.34789	0.0732:0.0:0.4287:0.4982	.	148;148;148;148	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	E	148	ENSP00000343854:A148E;ENSP00000369182:A148E;ENSP00000265708:A148E;ENSP00000429352:A148E	.	A	-	2	0	ADAM2	39797748	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.049000	0.14099	-0.352000	0.08237	0.655000	0.94253	GCA			0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376926.1		NM_001464		T	39678591	G	T	39678591	3	4	94	1	0	0	0	0	1	0	0	0	241	1319	46	2	1824	2	ADAM2	8	39678591	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	15422065	39678591	106685431	31	6634											
PKHD1L1	93035	broad.mit.edu	37	chr8	110422126	110422126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggaagaaatggttagcacTaagtgtccaccacaaattgc	14	9	10	8	0	0	1	0	0	0	1	1	2	1	2	2	2	2	2	2	2	5	3			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr8:110422126T>C	ENST00000378402.5	+	19	2108	c.2004T>C	c.(2002-2004)acT>acC	p.T668T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	668					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)			TGGTTAGCACTAAGTGTCCAC	0.303										HNSCC(38;0.096)																											p.T668T													.	PKHD1L1	522		0			c.T2004C												68	65	66					8																	110422126		1809	4070	5879	SO:0001819	synonymous_variant	93035	exon19			TAGCACTAAGTGT	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.2004T>C	8.37:g.110422126T>C			254	0	0		511	0.01	4	NM_177531	0		0	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																					0.303	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381017.1		NM_177531		C	110422126	T	C	110422126	2	2	94	1	0	0	0	0	0	0	0	1	11989	1509	53	4		4	PKHD1L1	8	110422126	Silent	SNP	T	TCGA-SN-A84Y-01A-11D-A435-10	70743535	110422126	35941896	32	6635											
BNC2	54796	mdanderson.org	37	chr9	16419625	16419625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggtcaacagtttacgatGtaggtttatgttggcactgt	8	17	11	5	1	1	0	1	0	0	0	1	1	1	0	0	3	2	5	0	3	4	7	rs370046975		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr9:16419625G>T	ENST00000380672.4	-	7	2719	c.2662C>A	c.(2662-2664)Cat>Aat	p.H888N	BNC2_ENST00000380667.2_Missense_Mutation_p.H821N|BNC2_ENST00000545497.1_Missense_Mutation_p.H793N	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)		AGTTTACGATGTAGGTTTATG	0.478																																					p.H888N													.	.			0			c.C2662A												52	59	57					9																	16419625		2154	4230	6384	SO:0001583	missense	54796	exon7			TACGATGTAGGTT	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.2662C>A	9.37:g.16419625G>T	ENSP00000370047:p.His888Asn		57	0	0		49	0.06	3	NM_017637	25	0	0		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506139	0.64410	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.49432	0.92;0.82;0.78	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);	0.047036	0.85682	D	0.000000	T	0.71584	0.3357	M	0.79926	2.475	0.80722	D	1	B;D;D	0.63880	0.13;0.981;0.993	B;D;D	0.70935	0.075;0.954;0.971	T	0.72740	-0.4202	10	0.51188	T	0.08	-11.3203	19.6005	0.95560	0.0:0.0:1.0:0.0	.	793;888;653	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	N	888;821;793	ENSP00000370047:H888N;ENSP00000370042:H821N;ENSP00000444640:H793N	ENSP00000370042:H821N	H	-	1	0	BNC2	16409625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.634000	0.89283	0.655000	0.94253	CAT			0.478	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000216901.5		NM_017637		T	16419625	G	T	16419625	3	4	94	1	0	0	0	0	1	0	0	0	1475	1377	48	3	641	3	BNC2	9	16419625	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		16419625	124793806	33	6636											
MLLT3	4300	hgsc.bcm.edu;broad.mit.edu	37	chr9	20414311	20414313	+	In_Frame_Del	DEL	CTG	CTG	-																															tgctgctactgctgctgctaCtgctgctgctgctgctgctg																										TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	CTG	CTG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr9:20414311_20414313delCTG	ENST00000380338.4	-	5	817_819	c.531_533delCAG	c.(529-534)agcagt>agt	p.177_178SS>S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.174_175SS>S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctactgctgctgctgc	0.532			T	MLL	ALL																																p.178_178del				Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	MLLT3,caecum,carcinoma,0,1	MLLT3	125		0			c.532_534del																																									SO:0001651	inframe_deletion	4300	exon5			CTGCTACTGCTGC	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531_533delCAG	9.37:g.20414320_20414322delCTG	ENSP00000369695:p.Ser190del		75	0	0		89	0.2	18	NM_004529	3	0	0	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	In_Frame_Del	DEL	ENST00000380338.4	37	CCDS6494.1																																																																																					0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051872.1		NM_004529		-	20414313	CTG	-	20414311	7	5	94	1	0	1	0	1	0	0	0	0	9644	565	20	0	1201	0	MLLT3	9	20414311	In_Frame_Del	DEL	CTG	TCGA-SN-A84Y-01A-11D-A435-10	3994686	20414311	120799120	34	6637											
ARL5B	221079	mdanderson.org	37	chr10	18948572	18948572	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccccggtgctcgtgatgggGctgatcttcgccaaactgtg	5	10	14	12	3	1	2	0	2	1	0	3	2	1	2	3	3	2	2	3	3	1	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr10:18948572G>T	ENST00000377275.3	+	1	239	c.6G>T	c.(4-6)ggG>ggT	p.G2G	ARL5B-AS1_ENST00000449529.1_lincRNA	NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	2					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						TCGTGATGGGGCTGATCTTCG	0.711																																					p.G2G													.	.			0			c.G6T												21	21	21					10																	18948572		2200	4298	6498	SO:0001819	synonymous_variant	221079	exon1			GATGGGGCTGATC	AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23052	protein-coding gene	gene with protein product		608909	"ADP-ribosylation factor-like 8"	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.6G>T	10.37:g.18948572G>T			95	0	0		74	0.05	4	NM_178815	10	0	0		Silent	SNP	ENST00000377275.3	37	CCDS7131.1																																																																																					0.711	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047078.1		NM_178815		T	18948572	G	T	18948572	2	4	94	1	0	0	0	0	0	0	0	1	940	1190	42	2		2	ARL5B	10	18948572	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		18948572	116586175	35	6638											
ALDH18A1	5832	mdanderson.org	37	chr10	97397175	97397175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcatctctctgccctGattctgcagcactgatacct	8	12	6	15	0	4	2	1	2	3	0	5	2	4	2	2	0	5	3	2	0	1	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr10:97397175G>T	ENST00000371224.2	-	4	459	c.322C>A	c.(322-324)Cag>Aag	p.Q108K	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.Q108K|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	108	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TCTCTGCCCTGATTCTGCAGC	0.542																																					p.Q108K													.	.			0			c.C322A												102	86	91					10																	97397175		2203	4300	6503	SO:0001583	missense	5832	exon4			TGCCCTGATTCTG	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.322C>A	10.37:g.97397175G>T	ENSP00000360268:p.Gln108Lys		67	0	0		58	0.07	4	NM_001017423	126	0	0	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612815	0.66672	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.71341	-0.56;-0.56	5.6	5.6	0.85130	Aspartate/glutamate/uridylate kinase (3);	0.049227	0.85682	D	0.000000	T	0.59595	0.2205	N	0.20357	0.565	0.80722	D	1	B;B	0.21381	0.055;0.045	B;B	0.29353	0.101;0.039	T	0.53906	-0.8372	10	0.22706	T	0.39	-14.9541	17.102	0.86652	0.0:0.0:1.0:0.0	.	108;108	P54886;P54886-2	P5CS_HUMAN;.	K	108	ENSP00000360268:Q108K;ENSP00000360265:Q108K	ENSP00000360265:Q108K	Q	-	1	0	ALDH18A1	97387165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.259000	0.95561	2.642000	0.89623	0.555000	0.69702	CAG			0.542	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049552.1		NM_002860		T	97397175	G	T	97397175	3	4	94	1	0	0	0	0	1	0	0	0	489	1299	45	3	2125	3	ALDH18A1	10	97397175	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	78448603	97397175	38137572	36	6639											
FJX1	24147	mdanderson.org	37	chr11	35640729	35640729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgcgcctgcgtgcgctacgGcatcaacccggagcagattc	7	6	12	16	6	1	1	1	0	0	1	2	2	1	2	3	2	5	3	3	2	2	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr11:35640729G>T	ENST00000317811.4	+	1	995	c.545G>T	c.(544-546)gGc>gTc	p.G182V		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	182					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GTGCGCTACGGCATCAACCCG	0.731																																					p.G182V	Melanoma(161;10 2587 27165 47356)												.	.			0			c.G545T												8	10	9					11																	35640729		1655	3632	5287	SO:0001583	missense	24147	exon1			GCTACGGCATCAA	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"putative secreted ligand homologous to fjx1"	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.545G>T	11.37:g.35640729G>T	ENSP00000400223:p.Gly182Val		23	0	0		10	0.2	2	NM_014344	5	0	0	B2RCA9|Q9UGK6	Missense_Mutation	SNP	ENST00000317811.4	37	CCDS44570.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979646	0.53827	.	.	ENSG00000179431	ENST00000317811	T	0.35789	1.29	4.23	4.23	0.50019	.	.	.	.	.	T	0.53753	0.1816	L	0.58101	1.795	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.51309	-0.8722	9	0.33940	T	0.23	-8.8104	14.1062	0.65091	0.0:0.0:1.0:0.0	.	182	Q86VR8	FJX1_HUMAN	V	182	ENSP00000400223:G182V	ENSP00000400223:G182V	G	+	2	0	FJX1	35597305	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.002000	0.76304	1.893000	0.54813	0.462000	0.41574	GGC			0.731	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389078.1		NM_014344		T	35640729	G	T	35640729	3	4	94	1	0	0	0	0	1	0	0	0	5914	1203	42	2	547	2	FJX1	11	35640729	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		35640729	99365787	37	6640											
OR5AP2	338675	mdanderson.org	37	chr11	56409844	56409844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtagatctggattgtcGgaaagtcctaagaggagaaa	13	10	12	6	1	1	3	0	0	1	3	3	6	2	5	2	3	0	1	2	3	4	4			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr11:56409844G>A	ENST00000302981.1	-	1	71	c.72C>T	c.(70-72)tcC>tcT	p.S24S	OR5AP2_ENST00000544374.1_Silent_p.S25S	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	24						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(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTGGATTGTCGGAAAGTCCTA	0.388																																					p.S24S													.	.			0			c.C72T												101	94	96					11																	56409844		2201	4296	6497	SO:0001819	synonymous_variant	338675	exon1			ATTGTCGGAAAGT	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.72C>T	11.37:g.56409844G>A			33	0	0		31	0.1	3	NM_001002925	0		0	B2RNM8	Silent	SNP	ENST00000302981.1	37	CCDS31534.1																																																																																					0.388	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000391613.1		NM_001002925		A	56409844	G	A	56409844	2	1	94	1	0	0	0	0	0	0	0	1	11161	1103	39	1		1	OR5AP2	11	56409844	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	20769115	56409844	78596672	38	6641											
CTNND1	1500	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	57573388	57573392	+	Frame_Shift_Del	DEL	TATCA	TATCA	-																															tgtttgccttcttcggaactTatcatatcaagttcaccggg																										TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	TATCA	TATCA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr11:57573388_57573392delTATCA	ENST00000399050.4	+	10	2293_2297	c.1757_1761delTATCA	c.(1756-1761)ttatcafs	p.LS586fs	CTNND1_ENST00000532649.1_Frame_Shift_Del_p.LS532fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.LS485fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.LS263fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.LS532fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.LS532fs|CTNND1_ENST00000532787.1_Frame_Shift_Del_p.LS485fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.LS485fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.LS532fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000524630.1_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.LS532fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.LS263fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.LS485fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.LS532fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.LS263fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.LS263fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.LS263fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.LS485fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.LS532fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.LS586fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.LS532fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.LS485fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.LS485fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.LS485fs	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	586					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)				CTTCGGAACTTATCATATCAAGTTC	0.468																																					p.586_587del													.	CTNND1	203		0			c.1756_1760del																																									SO:0001589	frameshift_variant	1500	exon10			GGAACTTATCATA	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.1757_1761delTATCA	11.37:g.57573393_57573397delTATCA	ENSP00000382004:p.Leu586fs		99	0	0		86	0.36	31	NM_001085461	61	0	0	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Frame_Shift_Del	DEL	ENST00000399050.4	37	CCDS44604.1																																																																																					0.468	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000393944.1		NM_001331		-	57573392	TATCA	-	57573388	7	5	94	1	0	1	0	1	0	0	0	0	4021	1764	61	0	1787	0	CTNND1	11	57573388	Frame_Shift_Del	DEL	TATCA	TCGA-SN-A84Y-01A-11D-A435-10	1163544	57573388	77433128	39	6642											
ZP1	22917	mdanderson.org	37	chr11	60640737	60640737	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacccagcccggccccctGcggcttgagctgcggattgc	5	7	13	16	3	0	2	0	2	0	0	0	3	0	3	4	3	5	2	4	3	0	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr11:60640737G>T	ENST00000278853.5	+	7	1215	c.1215G>T	c.(1213-1215)ctG>ctT	p.L405L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	405	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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						CCGGCCCCCTGCGGCTTGAGC	0.597																																					p.L405L													.	.			0			c.G1215T												97	96	96					11																	60640737		2203	4299	6502	SO:0001819	synonymous_variant	22917	exon7			CCCCCTGCGGCTT	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.1215G>T	11.37:g.60640737G>T			113	0	0		65	0.06	4	NM_207341	0		0		Silent	SNP	ENST00000278853.5	37	CCDS31572.1																																																																																					0.597	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396329.1		NM_207341		T	60640737	G	T	60640737	2	4	94	1	0	0	0	0	0	0	0	1	18238	1306	46	2		2	ZP1	11	60640737	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	3067349	60640737	74365779	40	6643											
ZNHIT2	741	mdanderson.org	37	chr11	64884376	64884376	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagacttgctgggcacccagGgctccggaaacgccgagcag	10	4	14	13	3	0	1	0	0	0	1	1	3	1	2	3	3	3	4	3	3	2	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr11:64884376G>T	ENST00000310597.4	-	1	794	c.750C>A	c.(748-750)gcC>gcA	p.A250A	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	250							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGGCACCCAGGGCTCCGGAAA	0.672																																					p.A250A													.	.			0			c.C750A												15	17	16					11																	64884376		2189	4279	6468	SO:0001819	synonymous_variant	741	exon1			ACCCAGGGCTCCG		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.750C>A	11.37:g.64884376G>T			36	0	0		19	0.11	2	NM_014205	41	0	0	Q3SY14|Q8IUV0	Silent	SNP	ENST00000310597.4	37	CCDS8094.1																																																																																					0.672	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385260.1		NM_014205		T	64884376	G	T	64884376	2	4	94	1	0	0	0	0	0	0	0	1	18230	1219	43	3		3	ZNHIT2	11	64884376	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	4243639	64884376	70122140	41	6644											
RNASEH2C	84153	mdanderson.org	37	chr11	65487864	65487864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctctccccgtagacagCggccccgaaacgacacttcg	8	6	8	19	5	1	1	0	0	1	1	4	3	2	1	6	1	2	1	6	1	2	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr11:65487864C>T	ENST00000308418.4	-	2	385	c.197G>A	c.(196-198)cGc>cAc	p.R66H	RNASEH2C_ENST00000527610.1_Missense_Mutation_p.R66H|RNASEH2C_ENST00000528220.1_5'UTR	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	66					RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)				cervix(1)	1						CCGTAGACAGCGGCCCCGAAA	0.672																																					p.R66H													.	.			0			c.G197A												43	50	48					11																	65487864		2201	4296	6497	SO:0001583	missense	84153	exon2			AGACAGCGGCCCC	AF312034	CCDS8111.1	11q13.1	2014-09-17							24116	protein-coding gene	gene with protein product	"Aicardi-Goutieres syndrome 3"	610330				8244390, 16845400	Standard	NM_032193		Approved	AYP1, AGS3	uc001ofn.3	Q8TDP1		ENST00000308418.4:c.197G>A	11.37:g.65487864C>T	ENSP00000308193:p.Arg66His		82	0	0		48	0.06	3	NM_032193	193	0	0	Q9H7F5	Missense_Mutation	SNP	ENST00000308418.4	37	CCDS8111.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355090	0.95854	.	.	ENSG00000172922	ENST00000308418;ENST00000527610	D;D	0.95272	-3.66;-3.66	4.31	4.31	0.51392	.	0.000000	0.53938	D	0.000047	D	0.97427	0.9158	M	0.88906	2.99	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98194	1.0464	10	0.72032	D	0.01	-21.6934	14.7185	0.69289	0.0:1.0:0.0:0.0	.	66	Q8TDP1	RNH2C_HUMAN	H	66	ENSP00000308193:R66H;ENSP00000432897:R66H	ENSP00000308193:R66H	R	-	2	0	RNASEH2C	65244440	0.998000	0.40836	0.910000	0.35882	0.905000	0.53344	4.707000	0.61852	2.125000	0.65367	0.549000	0.68633	CGC			0.672	RNASEH2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390693.2		NM_032193		T	65487864	C	T	65487864	3	4	94	1	0	0	0	0	1	0	0	0	13437	768	27	1	309	1	RNASEH2C	11	65487864	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	603488	65487864	69518652	42	6645											
PDE2A	5138	broad.mit.edu	37	chr11	72299854	72299854	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttctagcttgttgaaggcGcaggccaaggccaccacctg	8	8	11	14	1	1	1	0	1	1	0	1	1	1	1	5	3	1	3	5	3	3	4	rs138984931		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr11:72299854G>A	ENST00000334456.5	-	13	1289	c.1044C>T	c.(1042-1044)tgC>tgT	p.C348C	PDE2A_ENST00000444035.2_Silent_p.C339C|PDE2A_ENST00000540345.1_Silent_p.C339C|PDE2A_ENST00000544570.1_Silent_p.C341C|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Silent_p.C233C|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	348	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TGTTGAAGGCGCAGGCCAAGG	0.562													G|||	1	0.000199681	0	0.0014	5008	,	,		21278	0		0	False		,,,				2504	0				p.C348C													.	PDE2A	156		0			c.C1044T							G	,,	2,4398	4.2+/-10.8	0,2,2198	81	76	77		1023,1017,1044	-0.2	1	11	dbSNP_134	77	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE2A	NM_001143839.3,NM_001146209.2,NM_002599.4	,,	0,3,6490	AA,AG,GG		0.0116,0.0455,0.0231	,,	341/935,339/933,348/942	72299854	3,12983	2200	4293	6493	SO:0001819	synonymous_variant	5138	exon13			GAAGGCGCAGGCC	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1044C>T	11.37:g.72299854G>A			158	0	0		135	0.03	4	NM_002599	1	0	0	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	CCDS8216.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.09	1.254940	0.22965	4.55E-4	1.16E-4	ENSG00000186642	ENST00000538299	.	.	.	4.95	-0.238	0.13055	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46527	-0.9185	4	.	.	.	.	8.9027	0.35503	0.4753:0.0:0.5247:0.0	.	.	.	.	C	110	.	.	R	-	1	0	PDE2A	71977502	0.659000	0.27411	0.990000	0.47175	0.986000	0.74619	-0.076000	0.11412	-0.231000	0.09825	0.491000	0.48974	CGC			0.562	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219839.2		NM_002599		A	72299854	G	A	72299854	2	1	94	1	0	0	0	0	0	0	0	1	11653	1079	38	1		1	PDE2A	11	72299854	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	6811990	72299854	62706662	43	6646											
PDE3A	5139	broad.mit.edu	37	chr12	20522511	20522511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaaggaggcggcggcggCggaggaggaggaagcagccc	9	2	22	8	4	0	0	0	0	0	0	0	5	0	5	1	9	2	2	1	9	2	1	rs200052001		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr12:20522511C>A	ENST00000359062.3	+	1	333	c.293C>A	c.(292-294)gCg>gAg	p.A98E	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	98	Poly-Ala.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.A98V(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	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)	GCGGCGGCGGCGGAGGAGGAG	0.741													A|||	1	0.000199681	0	0	5008	,	,		11314	0		0.001	False		,,,				2504	0				p.A98E													PDE3A,colon,NS,0,1	PDE3A	184	1	1	Substitution - Missense(1)	large_intestine(1)	c.C293A							A	GLU/ALA	0,4082		0,0,2041	4	4	4		293	-5.4	0	12		4	2,8076		0,2,4037	no	missense	PDE3A	NM_000921.4	107	0,2,6078	AA,AC,CC		0.0248,0.0,0.0164	benign	98/1142	20522511	2,12158	2041	4039	6080	SO:0001583	missense	5139	exon1			CGGCGGCGGAGGA		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.293C>A	12.37:g.20522511C>A	ENSP00000351957:p.Ala98Glu		45	0.0222222222	1		88	0.05	4	NM_000921	0		0	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.464469	0.01053	0.0	2.48E-4	ENSG00000172572	ENST00000359062	T	0.61627	0.09	4.4	-5.38	0.02673	.	1.144360	0.06539	N	0.742936	T	0.33206	0.0855	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42120	-0.9470	10	0.02654	T	1	.	9.2036	0.37275	0.6781:0.2354:0.0:0.0865	.	98	Q14432	PDE3A_HUMAN	E	98	ENSP00000351957:A98E	ENSP00000351957:A98E	A	+	2	0	PDE3A	20413778	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-1.510000	0.02262	-1.958000	0.01019	-3.067000	0.00067	GCG			0.741	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401756.2				A	20522511	C	A	20522511	3	1	94	1	0	0	0	0	1	0	0	0	11654	768	27	1	295	1	PDE3A	12	20522511	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10		20522511	113329384	44	6647											
MARS	4141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	57898052	57898052	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcatgccctgtggtgcagtcGagccagcacctgtttctgga	6	11	12	12	1	2	0	1	0	1	0	3	2	2	1	3	2	4	3	3	2	0	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr12:57898052G>C	ENST00000262027.5	+	11	1472	c.1338G>C	c.(1336-1338)tcG>tcC	p.S446S	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.S212S	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	446					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)	TGGTGCAGTCGAGCCAGCACC	0.542																																					p.S446S													MARS,colon,carcinoma,+1,3	MARS	1	3	0			c.G1338C												134	125	128					12																	57898052		2203	4300	6503	SO:0001819	synonymous_variant	4141	exon11			GCAGTCGAGCCAG	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.1338G>C	12.37:g.57898052G>C			156	0.0064102564	1		187	0.1	19	NM_004990	570	0.11	63	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	CCDS8942.1																																																																																					0.542	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407014.1		NM_004990		C	57898052	G	C	57898052	2	2	94	1	0	0	0	0	0	0	0	1	9332	1045	37	5		5	MARS	12	57898052	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	37375541	57898052	75953843	45	6648											
PLBD2	196463	mdanderson.org	37	chr12	113826311	113826311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcctgctggcggccagCggtcccacgtgggaccaggt	5	6	16	14	3	0	1	0	1	0	0	1	2	1	2	4	5	3	1	4	5	0	0	rs377323141		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr12:113826311C>T	ENST00000280800.3	+	12	1681	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	PLBD2_ENST00000545182.2_Silent_p.S518S	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	550					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGGCGGCCAGCGGTCCCACGT	0.692																																					p.S550S													.	.			0			c.C1650T								,	0,4402		0,0,2201	27	27	27		1554,1650	-1.9	1	12		27	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous	PLBD2	NM_001159727.1,NM_173542.3	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	518/558,550/590	113826311	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	196463	exon12			GGCCAGCGGTCCC	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1650C>T	12.37:g.113826311C>T			29	0	0		26	0.08	2	NM_173542	49	0	0	F5H5E2	Silent	SNP	ENST00000280800.3	37	CCDS9168.1																																																																																					0.692	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404835.1		NM_173542		T	113826311	C	T	113826311	2	4	94	1	0	0	0	0	0	0	0	1	12043	767	27	1		1	PLBD2	12	113826311	Silent	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	55928259	113826311	20025584	46	6649											
TMEM132D	121256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	130184692	130184692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacggacttcctcctccCggcaaccaccgtgggggggc	5	6	13	17	3	0	0	0	0	0	0	4	1	4	1	6	5	1	1	6	5	1	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr12:130184692C>G	ENST00000422113.2	-	2	957	c.631G>C	c.(631-633)Ggg>Cgg	p.G211R	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	211					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.G211R(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)		TTCCTCCTCCCGGCAACCACC	0.706																																					p.G211R													TMEM132D,face,carcinoma,0,1	TMEM132D	0	1	1	Substitution - Missense(1)	skin(1)	c.G631C												25	28	27					12																	130184692		2201	4297	6498	SO:0001583	missense	121256	exon2			TCCTCCCGGCAAC	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.631G>C	12.37:g.130184692C>G	ENSP00000408581:p.Gly211Arg		97	0	0		85	0.18	15	NM_133448	8	0.38	3	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671085	0.29693	.	.	ENSG00000151952	ENST00000422113	T	0.12569	2.67	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000003	T	0.33411	0.0862	M	0.68317	2.08	0.43338	D	0.995387	D	0.89917	1.0	D	0.87578	0.998	T	0.01520	-1.1334	9	.	.	.	-43.1854	11.519	0.50541	0.0:0.9184:0.0:0.0816	.	211	Q14C87	T132D_HUMAN	R	211	ENSP00000408581:G211R	.	G	-	1	0	TMEM132D	128750645	1.000000	0.71417	0.329000	0.25429	0.009000	0.06853	5.481000	0.66826	2.482000	0.83794	0.650000	0.86243	GGG			0.706	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399592.1		NM_133448		G	130184692	C	G	130184692	3	3	94	1	0	0	0	0	1	0	0	0	16070	652	23	5	2700	5	TMEM132D	12	130184692	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	16358381	130184692	3667203	47	6650											
ULK1	8408	mdanderson.org	37	chr12	132398927	132398927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgttctccagcagcaggtgCggcgcctctgtccccatccc	4	8	10	19	3	2	0	0	0	2	0	5	0	4	0	6	2	3	3	6	2	0	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr12:132398927C>T	ENST00000321867.4	+	16	1629	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	426					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCAGCAGGTGCGGCGCCTCTG	0.627																																					p.C426C													.	.			0			c.C1278T												68	64	65					12																	132398927		2203	4295	6498	SO:0001819	synonymous_variant	8408	exon16			CAGGTGCGGCGCC	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1278C>T	12.37:g.132398927C>T			53	0	0		33	0.09	3	NM_003565	97	0	0	Q9UQ28	Silent	SNP	ENST00000321867.4	37	CCDS9274.1																																																																																					0.627	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397769.3				T	132398927	C	T	132398927	2	4	94	1	0	0	0	0	0	0	0	1	16999	776	27	1		1	ULK1	12	132398927	Silent	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	2214235	132398927	1452968	48	6651											
COL4A2	1284	mdanderson.org	37	chr13	111080922	111080922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggctctgaggggttcaccGggcctcccgtgagtatcccc	4	8	13	16	3	2	2	1	2	1	0	4	2	4	2	6	4	0	3	6	4	1	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr13:111080922G>T	ENST00000360467.5	+	7	775	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	157					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)			GGGGTTCACCGGGCCTCCCGT	0.687																																					p.G157W													.	.			0			c.G469T												23	30	28					13																	111080922		1881	4092	5973	SO:0001583	missense	1284	exon7			TTCACCGGGCCTC	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.469G>T	13.37:g.111080922G>T	ENSP00000353654:p.Gly157Trp		75	0	0		37	0.08	3	NM_001846	111	0	0	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378308	0.61735	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99369	-5.78	5.38	5.38	0.77491	.	0.000000	0.53938	D	0.000059	D	0.99732	0.9895	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97031	0.9750	10	0.87932	D	0	.	19.1515	0.93491	0.0:0.0:1.0:0.0	.	157	P08572	CO4A2_HUMAN	W	157	ENSP00000353654:G157W	ENSP00000257309:G157W	G	+	1	0	COL4A2	109878923	1.000000	0.71417	0.231000	0.23993	0.009000	0.06853	7.151000	0.77411	2.514000	0.84764	0.655000	0.94253	GGG			0.687	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045761.2		NM_001846		T	111080922	G	T	111080922	3	4	94	1	0	0	0	0	1	0	0	0	3692	1116	39	1	491	1	COL4A2	13	111080922	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		111080922	4088956	49	6652											
GAS6	2621	mdanderson.org	37	chr13	114542742	114542742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccagctttacacaggCagaagaagttgcccatgagg	12	6	11	12	0	0	3	0	1	0	2	0	3	0	3	3	2	4	3	3	2	3	3			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr13:114542742C>A	ENST00000327773.6	-	5	571	c.425G>T	c.(424-426)tGc>tTc	p.C142F	GAS6_ENST00000357389.3_Missense_Mutation_p.C142F|GAS6_ENST00000355761.4_Missense_Mutation_p.C88F|GAS6-AS1_ENST00000458001.1_RNA	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	142	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TTTACACAGGCAGAAGAAGTT	0.617																																					p.C142F													.	.			0			c.G425T												126	116	119					13																	114542742		2203	4300	6503	SO:0001583	missense	2621	exon5			CACAGGCAGAAGA		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.425G>T	13.37:g.114542742C>A	ENSP00000331831:p.Cys142Phe		98	0	0		49	0.06	3	NM_000820	67	0	0	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	c	24.7	4.565135	0.86439	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.96265	-3.96;-3.96;-3.96	4.59	4.59	0.56863	.	.	.	.	.	D	0.98918	0.9633	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99585	1.0974	9	0.87932	D	0	-32.7963	17.4297	0.87536	0.0:1.0:0.0:0.0	.	142	Q14393-2	.	F	142;88;142	ENSP00000349962:C142F;ENSP00000348003:C88F;ENSP00000331831:C142F	ENSP00000331831:C142F	C	-	2	0	GAS6	113571201	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.961000	0.70356	2.097000	0.63578	0.479000	0.44913	TGC			0.617	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000045946.2		NM_000820		A	114542742	C	A	114542742	3	1	94	1	0	0	0	0	1	0	0	0	6263	710	25	2	1655	2	GAS6	13	114542742	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	3461820	114542742	627136	50	6653											
CHGA	1113	mdanderson.org	37	chr14	93398725	93398725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccaggtcggtcggaGgctctggctgtggatggagc	4	9	17	11	2	1	0	0	0	1	0	4	3	2	3	2	7	2	3	2	7	0	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr14:93398725G>T	ENST00000216492.5	+	7	1099	c.819G>T	c.(817-819)gaG>gaT	p.E273D	CHGA_ENST00000334654.4_Missense_Mutation_p.E122D	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	273					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GTCGGTCGGAGGCTCTGGCTG	0.652																																					p.E273D	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												.	.			0			c.G819T												23	18	20					14																	93398725		2200	4296	6496	SO:0001583	missense	1113	exon7			GTCGGAGGCTCTG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.819G>T	14.37:g.93398725G>T	ENSP00000216492:p.Glu273Asp		91	0	0		45	0.07	3	NM_001275	72	0	0	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.318919	0.10845	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01560	4.77;4.77	4.36	3.45	0.39498	.	1.537520	0.03778	N	0.260850	T	0.02571	0.0078	L	0.46614	1.455	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.15484	0.006;0.013	T	0.54316	-0.8312	10	0.12430	T	0.62	-9.1907	7.9596	0.30064	0.0:0.1748:0.6449:0.1803	.	122;273	G5E968;P10645	.;CMGA_HUMAN	D	273;122	ENSP00000216492:E273D;ENSP00000334023:E122D	ENSP00000216492:E273D	E	+	3	2	CHGA	92468478	0.859000	0.29813	0.026000	0.17262	0.573000	0.36030	2.089000	0.41672	0.941000	0.37499	0.561000	0.74099	GAG			0.652	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412411.1		NM_001275		T	93398725	G	T	93398725	3	4	94	1	0	0	0	0	1	0	0	0	3340	991	35	3	845	3	CHGA	14	93398725	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		93398725	13950815	51	6654											
NUDT14	256281	mdanderson.org	37	chr14	105639424	105639424	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaccaaagatgacgccgagGgtcttggggatgtccgggtc	9	7	15	10	3	1	2	0	1	1	1	3	4	2	3	3	4	0	0	3	4	1	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr14:105639424G>T	ENST00000392568.2	-	5	696	c.603C>A	c.(601-603)acC>acA	p.T201T	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	201	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGACGCCGAGGGTCTTGGGGA	0.632										HNSCC(42;0.11)																											p.T201T													.	.			0			c.C603A												81	81	81					14																	105639424		2202	4295	6497	SO:0001819	synonymous_variant	256281	exon5			GCCGAGGGTCTTG	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"Nudix motif containing"	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.603C>A	14.37:g.105639424G>T			58	0	0		45	0.07	3	NM_177533	122	0	0	Q86SJ8	Silent	SNP	ENST00000392568.2	37	CCDS10000.1																																																																																					0.632	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000074544.4		NM_177533		T	105639424	G	T	105639424	2	4	94	1	0	0	0	0	0	0	0	1	10747	1219	43	3		3	NUDT14	14	105639424	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	12240699	105639424	1710116	52	6655											
VPS13C	54832	broad.mit.edu	37	chr15	62283898	62283898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcaatgattcttcgtccTttttcttagactctttctta	8	20	4	9	1	5	2	1	1	4	1	7	3	6	2	1	0	0	0	1	0	4	7			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr15:62283898T>C	ENST00000261517.5	-	17	1530	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	VPS13C_ENST00000395896.4_Missense_Mutation_p.K486R|VPS13C_ENST00000249837.3_Missense_Mutation_p.K443R|VPS13C_ENST00000395898.3_Missense_Mutation_p.K443R	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						TTCTTCGTCCTTTTTCTTAGA	0.373																																					p.K486R													.	VPS13C	506		0			c.A1457G												163	170	168					15																	62283898		2203	4300	6503	SO:0001583	missense	54832	exon17			TCGTCCTTTTTCT	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.1457A>G	15.37:g.62283898T>C	ENSP00000261517:p.Lys486Arg		172	0	0		286	0.01	4	NM_020821	1	0	0		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955074	0.53293	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.47177	0.86;0.85;1.02	5.78	4.67	0.58626	.	0.251660	0.39341	N	0.001393	T	0.38348	0.1037	L	0.41573	1.285	0.29349	N	0.865443	B;B;B;B	0.12013	0.002;0.002;0.005;0.001	B;B;B;B	0.12837	0.005;0.005;0.008;0.003	T	0.30327	-0.9982	10	0.38643	T	0.18	.	10.9823	0.47501	0.0:0.0738:0.0:0.9262	.	443;486;443;486	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	443;486;486;486	ENSP00000249837:K443R;ENSP00000261517:K486R;ENSP00000379233:K486R	ENSP00000249837:K443R	K	-	2	0	VPS13C	60071190	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.844000	0.55873	1.032000	0.39892	0.482000	0.46254	AAG			0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000415997.1		NM_017684		C	62283898	T	C	62283898	3	2	94	1	0	0	0	0	1	0	0	0	17215	1609	56	4	10108	4	VPS13C	15	62283898	Missense_Mutation	SNP	T	TCGA-SN-A84Y-01A-11D-A435-10		62283898	40247494	53	6656											
IGDCC4	57722	mdanderson.org	37	chr15	65688201	65688201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtagcagtgacccgcGtgggggcgctgggcagcccc	4	5	19	13	4	0	1	0	1	0	0	0	1	0	1	3	4	2	4	3	4	1	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr15:65688201G>T	ENST00000352385.2	-	7	1507	c.1298C>A	c.(1297-1299)aCg>aAg	p.T433K		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	433	Fibronectin type-III 1. {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						AGTGACCCGCGTGGGGGCGCT	0.692																																					p.T433K													.	.			0			c.C1298A												11	11	11					15																	65688201		2167	4248	6415	SO:0001583	missense	57722	exon7			ACCCGCGTGGGGG		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.1298C>A	15.37:g.65688201G>T	ENSP00000319623:p.Thr433Lys		11	0	0		20	0.1	2	NM_020962	0		0	Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583470	0.28268	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.57752	0.38	4.45	4.45	0.53987	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.326366	0.31145	N	0.008176	T	0.40222	0.1108	L	0.34521	1.04	0.32132	N	0.586653	B	0.23442	0.085	B	0.27170	0.077	T	0.45145	-0.9281	10	0.21540	T	0.41	-13.1258	11.0657	0.47974	0.0:0.0:0.6766:0.3234	.	433	Q8TDY8	IGDC4_HUMAN	K	433;162	ENSP00000319623:T433K	ENSP00000319623:T433K	T	-	2	0	IGDCC4	63475254	0.999000	0.42202	1.000000	0.80357	0.729000	0.41735	2.855000	0.48333	2.187000	0.69744	0.462000	0.41574	ACG			0.692	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000256825.2		NM_020962		T	65688201	G	T	65688201	3	4	94	1	0	0	0	0	1	0	0	0	7584	1145	40	1	2510	1	IGDCC4	15	65688201	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	3404303	65688201	36843191	54	6657											
PCSK6	5046	broad.mit.edu	37	chr15	101968168	101968168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcagcaacttctcccGcacaacgagtgccgtgtctg	9	8	10	14	3	2	1	0	1	2	0	3	2	2	1	2	0	5	3	2	0	3	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr15:101968168G>A	ENST00000348070.1	-	7	748	c.749C>T	c.(748-750)gCg>gTg	p.A250V	PCSK6_ENST00000398181.2_Missense_Mutation_p.A250V|PCSK6_ENST00000358417.3_Missense_Mutation_p.A250V|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.A85V|PCSK6_ENST00000344273.2_Missense_Mutation_p.A250V	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	251	Peptidase S8.				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)			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)			AACTTCTCCCGCACAACGAGT	0.522																																					.													.	PCSK6	202		0			.												28	31	30					15																	101968168		2053	4190	6243	SO:0001583	missense	5046	.			TCTCCCGCACAAC		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.749C>T	15.37:g.101968168G>A	ENSP00000305056:p.Ala250Val		71	0	0		56	0.05	3	.	16	0	0	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37		.	.	.	.	.	.	.	.	.	.	G	29.0	4.968884	0.92855	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.0	5.0	0.66597	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.111338	0.64402	D	0.000010	D	0.97598	0.9213	H	0.99130	4.44	0.80722	D	1	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	D;D;D;D;D;D;D;D;D	0.97110	0.995;0.998;1.0;1.0;1.0;1.0;0.996;1.0;1.0	D	0.99741	1.1015	10	0.87932	D	0	-23.9203	17.3048	0.87192	0.0:0.0:1.0:0.0	.	251;156;250;251;250;250;251;251;250	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	V	250;250;155;250;250;85	ENSP00000305056:A250V;ENSP00000351193:A250V;ENSP00000344410:A250V;ENSP00000381243:A250V;ENSP00000332052:A85V	ENSP00000332052:A85V	A	-	2	0	PCSK6	99785691	1.000000	0.71417	0.991000	0.47740	0.927000	0.56198	8.761000	0.91691	2.298000	0.77334	0.655000	0.94253	GCG			0.522	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_002570		A	101968168	G	A	101968168	3	1	94	1	0	0	0	0	1	0	0	0	11621	1087	38	1	2704	1	PCSK6	15	101968168	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	36279967	101968168	563224	55	6658											
CLCN7	1186	mdanderson.org	37	chr16	1510494	1510494	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccacagcaacagggagaaGgacagtccgcccttctctgt	10	6	11	14	1	1	1	0	0	1	1	3	3	2	2	3	2	2	1	3	2	2	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr16:1510494G>T	ENST00000382745.4	-	6	1124	c.519C>A	c.(517-519)tcC>tcA	p.S173S	CLCN7_ENST00000448525.1_Silent_p.S149S|CLCN7_ENST00000262318.8_Silent_p.S149S	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	173					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|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)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				ACAGGGAGAAGGACAGTCCGC	0.607																																					p.S173S													.	.			0			c.C519A												151	111	125					16																	1510494		2199	4300	6499	SO:0001819	synonymous_variant	1186	exon6			GGAGAAGGACAGT	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.519C>A	16.37:g.1510494G>T			58	0.0172413793	1		51	0.06	3	NM_001287	50	0	0	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																					0.607	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103598.2		NM_001287		T	1510494	G	T	1510494	2	4	94	1	0	0	0	0	0	0	0	1	3470	987	35	3		3	CLCN7	16	1510494	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		1510494	88844259	56	6659											
C16orf59	80178	mdanderson.org	37	chr16	2514567	2514567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtaagcgctgcacagccGcaggggccgccctggctggc	5	5	16	15	3	0	0	0	0	0	0	0	0	0	0	3	5	3	5	3	5	1	1	rs560400790		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr16:2514567G>A	ENST00000361837.4	+	10	1265	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	C16orf59_ENST00000563531.1_3'UTR|C16orf59_ENST00000569496.1_3'UTR|C16orf59_ENST00000483320.1_Silent_p.P233P|RP11-715J22.2_ENST00000563775.1_RNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	400										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGCACAGCCGCAGGGGCCGC	0.687																																					p.P400P													.	.			0			c.G1200A												21	24	23					16																	2514567		1929	4111	6040	SO:0001819	synonymous_variant	80178	exon10			ACAGCCGCAGGGG	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.1200G>A	16.37:g.2514567G>A			42	0	0		41	0.07	3	NM_025108	53	0	0	B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	37	CCDS10468.2																																																																																					0.687	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250802.3		NM_025108		A	2514567	G	A	2514567	2	1	94	1	0	0	0	0	0	0	0	1	1825	1074	38	1		1	C16orf59	16	2514567	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	1004073	2514567	87840186	57	6660											
USP7	7874	mdanderson.org	37	chr16	9057131	9057131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctgctgctgctgctgCtggtggttcatgtcggccgc	1	14	14	12	2	2	0	1	0	1	0	3	0	2	0	1	3	6	7	1	3	0	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr16:9057131C>G	ENST00000344836.4	-	1	210	c.12G>C	c.(10-12)caG>caC	p.Q4H	RP11-77H9.8_ENST00000564485.1_lincRNA	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	4	Interaction with TSPYL5.|Poly-Gln.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						gctgctgctgctgGTGGTTCA	0.796																																					p.Q4H													USP7,colon,carcinoma,0,1	USP7	0	1	0			c.G12C																																									SO:0001583	missense	7874	exon1			CTGCTGCTGGTGG	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.12G>C	16.37:g.9057131C>G	ENSP00000343535:p.Gln4His		17	0	0		12	0.25	3	NM_003470	31	0	0	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311193	0.23821	.	.	ENSG00000187555	ENST00000344836	T	0.07688	3.17	2.25	2.25	0.28309	.	.	.	.	.	T	0.04272	0.0118	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38607	-0.9653	9	0.14656	T	0.56	.	7.4373	0.27162	0.259:0.741:0.0:0.0	.	4	Q93009	UBP7_HUMAN	H	4	ENSP00000343535:Q4H	ENSP00000343535:Q4H	Q	-	3	2	USP7	8964632	0.999000	0.42202	0.997000	0.53966	0.803000	0.45373	0.376000	0.20535	0.968000	0.38212	0.271000	0.19318	CAG			0.796	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434268.2				G	9057131	C	G	9057131	3	3	94	1	0	0	0	0	1	0	0	0	17112	796	28	5	3420	5	USP7	16	9057131	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	6542564	9057131	81297622	58	6661											
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30748991	30748991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctcagtcactaatctcCccttgggcttgaggcctgag	6	11	10	14	0	3	2	2	2	1	0	4	2	3	2	4	2	1	1	4	2	1	3			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr16:30748991C>T	ENST00000262518.4	+	34	8015	c.7630C>T	c.(7630-7632)Ccc>Tcc	p.P2544S	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2482S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2386S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2544	Pro-rich.				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)			CACTAATCTCCCCTTGGGCTT	0.567																																					p.P2544S													.	.			0			c.C7630T												128	121	124					16																	30748991		2197	4300	6497	SO:0001583	missense	10847	exon34			AATCTCCCCTTGG	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.7630C>T	16.37:g.30748991C>T	ENSP00000262518:p.Pro2544Ser		117	0	0		117	0.26	31	NM_006662	152	0.38	57	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	1.323	-0.598905	0.03744	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90900	-2.75;-2.75;-2.75	4.8	-2.26	0.06867	.	0.851259	0.09996	N	0.729120	T	0.74596	0.3737	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	0.60627	-0.7226	10	0.52906	T	0.07	0.3188	0.318	0.00298	0.2944:0.2977:0.1437:0.2641	.	2482;2544	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2544;2482;2386	ENSP00000262518:P2544S;ENSP00000378499:P2482S;ENSP00000343042:P2386S	ENSP00000262518:P2544S	P	+	1	0	SRCAP	30656492	0.016000	0.18221	0.400000	0.26346	0.095000	0.18619	-0.764000	0.04735	-0.593000	0.05844	0.467000	0.42956	CCC			0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255523.1		NM_006662		T	30748991	C	T	30748991	3	4	94	1	0	0	0	0	1	0	0	0	15158	623	22	3	7756	3	SRCAP	16	30748991	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	21691860	30748991	59605762	59	6662											
CNOT1	23019	mdanderson.org	37	chr16	58589745	58589745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatattcgctggaaatagctGtttgcttcatcatctatctc	9	17	6	9	1	4	0	2	0	2	0	6	1	4	1	0	1	2	4	0	1	5	7			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr16:58589745G>T	ENST00000317147.5	-	20	2879	c.2547C>A	c.(2545-2547)aaC>aaA	p.N849K	CNOT1_ENST00000441024.2_Missense_Mutation_p.N849K|CNOT1_ENST00000569240.1_Missense_Mutation_p.N844K|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	849	Interaction with ZFP36.				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)		GGAAATAGCTGTTTGCTTCAT	0.418																																					p.N849K													CNOT1_ENST00000441024,NS,carcinoma,-2,2	CNOT1_ENST00000441024	-2	2	0			c.C2547A												221	175	190					16																	58589745		2198	4300	6498	SO:0001583	missense	23019	exon20			ATAGCTGTTTGCT	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.2547C>A	16.37:g.58589745G>T	ENSP00000320949:p.Asn849Lys		51	0	0		49	0.06	3	NM_016284	101	0	0	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409568	0.83340	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.54279	0.63;0.58	5.88	2.91	0.33838	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	0.989;0.999;1.0	D;D;D	0.91635	0.979;0.96;0.999	T	0.66452	-0.5920	10	0.49607	T	0.09	.	9.9457	0.41607	0.2642:0.0:0.7358:0.0	.	849;849;844	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	K	849;278;844;849	ENSP00000320949:N849K;ENSP00000413113:N849K	ENSP00000320949:N849K	N	-	3	2	CNOT1	57147246	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.149000	0.58091	0.408000	0.25621	-0.142000	0.14014	AAC			0.418	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257385.3		NM_016284		T	58589745	G	T	58589745	3	4	94	1	0	0	0	0	1	0	0	0	3619	1368	48	3	4925	3	CNOT1	16	58589745	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	27840754	58589745	31765008	60	6663											
LRRC36	55282	mdanderson.org	37	chr16	67360773	67360773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgggcggggatggcggAgcaatgggagctggacgagg	7	3	24	7	5	0	0	0	0	0	0	0	5	0	4	0	9	2	2	0	9	1	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr16:67360773A>G	ENST00000329956.6	+	1	27	c.8A>G	c.(7-9)gAg>gGg	p.E3G	KCTD19_ENST00000304372.5_5'Flank|LRRC36_ENST00000563303.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	3										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)		ggGATGGCGGAGCAATGGGAG	0.776											OREG0023877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E3G													.	.			0			c.A8G												8	11	10					16																	67360773		2133	4165	6298	SO:0001583	missense	55282	exon1			TGGCGGAGCAATG	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.8A>G	16.37:g.67360773A>G	ENSP00000329943:p.Glu3Gly		16	0	0	1098	16	0.31	5	NM_018296	0		0	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.996809	0.35226	.	.	ENSG00000159708	ENST00000329956	T	0.11495	2.77	4.7	4.7	0.59300	.	0.870911	0.10036	N	0.724085	T	0.19287	0.0463	L	0.38175	1.15	0.80722	D	1	D	0.57257	0.979	P	0.56563	0.801	T	0.01056	-1.1466	10	0.87932	D	0	-10.9019	10.4877	0.44733	1.0:0.0:0.0:0.0	.	3	Q1X8D7	LRC36_HUMAN	G	3	ENSP00000329943:E3G	ENSP00000329943:E3G	E	+	2	0	LRRC36	65918274	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	3.134000	0.50538	1.959000	0.56917	0.460000	0.39030	GAG			0.776	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421770.1		NM_018296		G	67360773	A	G	67360773	3	3	94	1	0	0	0	0	1	0	0	0	9006	304	11	4	10	4	LRRC36	16	67360773	Missense_Mutation	SNP	A	TCGA-SN-A84Y-01A-11D-A435-10	8771028	67360773	22993980	61	6664											
ZFHX3	463	mdanderson.org	37	chr16	72821624	72821624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgccgccaccgccGccgccgccgccactgccacc	3	1	10	27	9	0	0	0	0	0	0	0	0	0	0	13	0	1	0	13	0	0	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr16:72821624G>A	ENST00000268489.5	-	10	11223	c.10551C>T	c.(10549-10551)ggC>ggT	p.G3517G	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2603G|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3517	Poly-Gly.				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)				cgccaccgccgccgccgccgc	0.706																																					p.G3517G													.	.			0			c.C10551T												6	10	9					16																	72821624		1525	3163	4688	SO:0001819	synonymous_variant	463	exon10			ACCGCCGCCGCCG	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.10551C>T	16.37:g.72821624G>A			21	0	0		26	0.12	3	NM_006885	0		0	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																					0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269008.1		NM_006885		A	72821624	G	A	72821624	2	1	94	1	0	0	0	0	0	0	0	1	17657	1074	38	1		1	ZFHX3	16	72821624	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	5460851	72821624	17533129	62	6665											
FAM101B	359845	broad.mit.edu	37	chr17	295717	295717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccgggagccagggggAgagacgctggactcttcaag	10	4	16	11	2	2	1	1	0	1	1	2	5	2	4	2	4	2	1	2	4	1	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr17:295717A>G	ENST00000329099.4	-	1	13	c.14T>C	c.(13-15)cTc>cCc	p.L5P		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	75					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)		AGCCAGGGGGAGAGACGCTGG	0.443																																					.													.	FAM101B	19		0			.												10	12	11					17																	295717		1968	4090	6058	SO:0001583	missense	359845	.			AGGGGGAGAGACG			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.14T>C	17.37:g.295717A>G	ENSP00000331915:p.Leu5Pro		525	0.0095238095	5		538	0.01	7	.	18	0	0		Missense_Mutation	SNP	ENST00000329099.4	37		.	.	.	.	.	.	.	.	.	.	A	12.70	2.017632	0.35606	.	.	ENSG00000183688	ENST00000329099	.	.	.	5.05	2.77	0.32553	.	0.516357	0.18702	N	0.133545	T	0.21881	0.0527	N	0.14661	0.345	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.11203	-1.0597	8	0.48119	T	0.1	4.5954	3.5824	0.07958	0.658:0.0:0.1788:0.1632	.	75	Q8N5W9	F101B_HUMAN	P	5	.	ENSP00000331915:L5P	L	-	2	0	FAM101B	295945	0.981000	0.34729	0.000000	0.03702	0.020000	0.10135	3.519000	0.53458	0.240000	0.21263	0.528000	0.53228	CTC			0.443	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255652.1		NM_182705		G	295717	A	G	295717	3	3	94	1	0	0	0	0	1	0	0	0	5391	291	11	4	428	4	FAM101B	17	295717	Missense_Mutation	SNP	A	TCGA-SN-A84Y-01A-11D-A435-10		295717	80899493	63	6666											
SREBF1	6720	broad.mit.edu	37	chr17	17716753	17716753	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtgtccgtgtggggctgGcccccgccatcagccgggcc	2	7	17	15	3	1	0	1	0	0	0	2	0	2	0	6	5	1	1	6	5	0	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr17:17716753G>C	ENST00000261646.5	-	18	3327	c.3143C>G	c.(3142-3144)gCc>gGc	p.A1048G	SREBF1_ENST00000355815.4_Missense_Mutation_p.A1078G|SREBF1_ENST00000395757.1_Missense_Mutation_p.A794G|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000338854.5_Intron	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1048					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						TGTGGGGCTGGCCCCCGCCAT	0.697																																					p.A1078G													.	SREBF1	47		0			c.C3233G												14	18	16					17																	17716753		2184	4290	6474	SO:0001583	missense	6720	exon19			GGGCTGGCCCCCG	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.3143C>G	17.37:g.17716753G>C	ENSP00000261646:p.Ala1048Gly		59	0.0508474576	3		48	0.19	9	NM_001005291	92	0.07	6	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	35	5.531372	0.96446	.	.	ENSG00000072310	ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	T;T;T	0.16897	2.31;2.31;2.31	5.03	5.03	0.67393	.	0.060381	0.64402	N	0.000004	T	0.49660	0.1570	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.59188	-0.7501	10	0.72032	D	0.01	-20.7725	18.3525	0.90343	0.0:0.0:1.0:0.0	.	1048;1078;667	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	G	1078;1048;794;667;885;974	ENSP00000348069:A1078G;ENSP00000261646:A1048G;ENSP00000379106:A794G	ENSP00000261646:A1048G	A	-	2	0	SREBF1	17657478	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.665000	0.98609	2.331000	0.79229	0.561000	0.74099	GCC			0.697	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131771.1		NM_004176		C	17716753	G	C	17716753	3	2	94	1	0	0	0	0	1	0	0	0	15164	1203	42	5	308	5	SREBF1	17	17716753	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	17421036	17716753	63478457	64	6667											
HDAC5	10014	mdanderson.org	37	chr17	42155923	42155923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcggcccccaccgacaGcaaggccatggcgctcacag	8	4	11	18	3	1	0	1	0	0	0	2	1	1	0	4	3	2	3	4	3	1	0	rs377012839		TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr17:42155923G>T	ENST00000393622.2	-	26	3605	c.3274C>A	c.(3274-3276)Ctg>Atg	p.L1092M	HDAC5_ENST00000225983.6_Missense_Mutation_p.L1093M|HDAC5_ENST00000586802.1_Missense_Mutation_p.L1092M|HDAC5_ENST00000336057.5_Missense_Mutation_p.L1007M	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1092					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)		CCCACCGACAGCAAGGCCATG	0.692																																					p.L1093M													.	.			0			c.C3277A												71	81	78					17																	42155923		2203	4299	6502	SO:0001583	missense	10014	exon26			CCGACAGCAAGGC	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.3274C>A	17.37:g.42155923G>T	ENSP00000377244:p.Leu1092Met		46	0	0		45	0.07	3	NM_001015053	172	0	0	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152411	0.78001	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.62639	0.01;0.01;0.57	5.35	4.39	0.52855	.	0.000000	0.64402	D	0.000012	T	0.77458	0.4133	M	0.81112	2.525	0.58432	D	0.999998	D;D;D	0.89917	0.969;1.0;1.0	P;D;D	0.97110	0.839;1.0;0.999	T	0.79222	-0.1892	10	0.87932	D	0	-10.9574	9.3413	0.38082	0.1657:0.0:0.8343:0.0	.	1007;1093;1092	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	M	1093;1092;1007	ENSP00000225983:L1093M;ENSP00000377244:L1092M;ENSP00000337290:L1007M	ENSP00000225983:L1093M	L	-	1	2	HDAC5	39511449	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.934000	0.63491	1.264000	0.44198	-0.136000	0.14681	CTG			0.692	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000457686.1		NM_001015053		T	42155923	G	T	42155923	3	4	94	1	0	0	0	0	1	0	0	0	7025	962	34	2	102	2	HDAC5	17	42155923	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	24439170	42155923	39039287	65	6668											
C17orf104	284071	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	42744013	42744016	+	Frame_Shift_Del	DEL	CTAA	CTAA	-																															cccctcacgaagtgatcattCtaactgtcacaatattcaga																										TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	CTAA	CTAA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr17:42744013_42744016delCTAA	ENST00000409122.2	+	5	876_879	c.734_737delCTAA	c.(733-738)tctaacfs	p.SN245fs	C17orf104_ENST00000359945.3_Frame_Shift_Del_p.SN245fs|C17orf104_ENST00000409464.1_Frame_Shift_Del_p.SN79fs	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	245										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AGTGATCATTCTAACTGTCACAAT	0.358																																					p.245_246del													.	C17orf104	75		0			c.733_736del																																									SO:0001589	frameshift_variant	284071	exon5			ATCATTCTAACTG		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.734_737delCTAA	17.37:g.42744013_42744016delCTAA	ENSP00000386452:p.Ser245fs		65	0	0		153	0.24	36	NM_001145080	7	0	0	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Frame_Shift_Del	DEL	ENST00000409122.2	37	CCDS45703.2																																																																																					0.358	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329171.2		NM_001145080		-	42744016	CTAA	-	42744013	7	5	94	1	0	1	0	1	0	0	0	0	1853	913	32	0	752	0	C17orf104	17	42744013	Frame_Shift_Del	DEL	CTAA	TCGA-SN-A84Y-01A-11D-A435-10	588090	42744013	38451197	66	6669											
C17orf101	79701	mdanderson.org	37	chr17	80361826	80361826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctcaccttgtccacgtgcGcatgccagtactcgtcgtgc	5	10	10	16	5	1	0	1	0	0	0	4	0	2	0	3	0	4	3	3	0	1	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr17:80361826G>T	ENST00000313056.5	-	7	837	c.686C>A	c.(685-687)gCg>gAg	p.A229E	OGFOD3_ENST00000329197.5_Missense_Mutation_p.A229E|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	229	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	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)										GTCCACGTGCGCATGCCAGTA	0.662																																					p.A229E													.	.			0			c.C686A												84	62	69					17																	80361826		2203	4300	6503	SO:0001583	missense	79701	exon7			ACGTGCGCATGCC	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.686C>A	17.37:g.80361826G>T	ENSP00000320116:p.Ala229Glu		40	0	0		26	0.08	2	NM_175902	50	0	0	C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669585	0.67814	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.59906	0.23;1.49	5.32	4.35	0.52113	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.120183	0.56097	D	0.000025	T	0.46014	0.1371	N	0.12182	0.205	0.35456	D	0.79609	P;P	0.52692	0.911;0.955	P;P	0.48166	0.565;0.569	T	0.60757	-0.7200	10	0.54805	T	0.06	-3.3873	12.5636	0.56297	0.081:0.0:0.919:0.0	.	229;229	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	E	229	ENSP00000320116:A229E;ENSP00000330075:A229E	ENSP00000320116:A229E	A	-	2	0	C17orf101	77955115	1.000000	0.71417	0.003000	0.11579	0.684000	0.39900	7.321000	0.79088	1.243000	0.43853	0.655000	0.94253	GCG			0.662	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442895.1		NM_175902		T	80361826	G	T	80361826	3	4	94	1	0	0	0	0	1	0	0	0	1850	1087	38	1	462	1	C17orf101	17	80361826	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	37617813	80361826	833384	67	6670											
CELF4	56853	mdanderson.org	37	chr18	34844656	34844656	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttctctctgctgctggggGatcattggaggcggctgagg	4	11	16	10	1	3	1	1	1	2	0	4	3	3	3	1	6	2	3	1	6	0	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr18:34844656G>T	ENST00000591282.1	-	10	1229	c.1230C>A	c.(1228-1230)atC>atA	p.I410I	CELF4_ENST00000361795.5_Silent_p.I408I|CELF4_ENST00000420428.2_Silent_p.I410I|CELF4_ENST00000412753.1_Silent_p.I409I|CELF4_ENST00000588597.1_Silent_p.I398I|CELF4_ENST00000601019.1_Silent_p.I408I|CELF4_ENST00000591287.1_Silent_p.I408I|CELF4_ENST00000334919.5_Silent_p.I400I|CELF4_ENST00000603232.1_Silent_p.I409I			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	410	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCTGCTGGGGGATCATTGGAG	0.637																																					p.I410I													.	.			0			c.C1230A												34	31	32					18																	34844656		2200	4299	6499	SO:0001819	synonymous_variant	56853	exon10			CTGGGGGATCATT	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1230C>A	18.37:g.34844656G>T			64	0	0		40	0.08	3	NM_020180	4	0	0	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	CCDS32818.1																																																																																					0.637	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000440892.1		NM_020180		T	34844656	G	T	34844656	2	4	94	1	0	0	0	0	0	0	0	1	3220	1164	41	3		3	CELF4	18	34844656	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		34844656	43232592	68	6671											
WDR7	23335	mdanderson.org	37	chr18	54398712	54398712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgattcacttagtcatccaGcagtcaacctaaaacaagct	14	11	5	11	0	3	1	3	1	0	0	4	1	4	1	2	0	4	2	2	0	5	4			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr18:54398712G>T	ENST00000254442.3	+	14	2084	c.1873G>T	c.(1873-1875)Gca>Tca	p.A625S	WDR7_ENST00000357574.3_Missense_Mutation_p.A625S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	625					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)		TAGTCATCCAGCAGTCAACCT	0.443																																					p.A625S													.	.			0			c.G1873T												143	117	126					18																	54398712		2203	4300	6503	SO:0001583	missense	23335	exon14			CATCCAGCAGTCA	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.1873G>T	18.37:g.54398712G>T	ENSP00000254442:p.Ala625Ser		115	0	0		108	0.05	5	NM_052834	3	0	0	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725207	0.89298	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.69306	-0.39;-0.38	5.3	5.3	0.74995	.	0.111802	0.64402	D	0.000011	T	0.68467	0.3004	N	0.12746	0.255	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.978	T	0.68780	-0.5318	10	0.27785	T	0.31	.	18.5514	0.91066	0.0:0.0:1.0:0.0	.	625;625	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	625	ENSP00000254442:A625S;ENSP00000350187:A625S	ENSP00000254442:A625S	A	+	1	0	WDR7	52549710	1.000000	0.71417	0.903000	0.35520	0.816000	0.46133	9.542000	0.98086	2.479000	0.83701	0.563000	0.77884	GCA			0.443	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256062.1				T	54398712	G	T	54398712	3	4	94	1	0	0	0	0	1	0	0	0	17344	971	34	2	1923	2	WDR7	18	54398712	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	19554056	54398712	23678536	69	6672											
APC2	10297	mdanderson.org	37	chr19	1468858	1468858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagacctcggagctggCgacgctgagccagcccccca	8	4	12	17	3	0	2	0	1	0	1	1	4	0	3	6	2	4	2	6	2	1	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr19:1468858C>T	ENST00000535453.1	+	14	7271	c.5558C>T	c.(5557-5559)gCg>gTg	p.A1853V	APC2_ENST00000233607.2_Missense_Mutation_p.A1853V|APC2_ENST00000238483.4_Missense_Mutation_p.A1579V|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		TCGGAGCTGGCGACGCTGAGC	0.751																																					p.A1853V													.	.			0			c.C5558T												3	6	5					19																	1468858		1915	3837	5752	SO:0001583	missense	10297	exon15			AGCTGGCGACGCT		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.5558C>T	19.37:g.1468858C>T	ENSP00000442954:p.Ala1853Val		10	0	0		12	0.17	2	NM_005883	0		0	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261360	0.39995	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.83163	-1.69;-1.69;-1.69	4.22	3.17	0.36434	Adenomatous polyposis coli protein basic domain (1);	0.587434	0.15872	N	0.240519	T	0.71117	0.3302	L	0.47716	1.5	0.38313	D	0.943306	P;P	0.43938	0.786;0.822	B;B	0.30716	0.073;0.119	T	0.70956	-0.4731	10	0.56958	D	0.05	-18.2067	6.9172	0.24367	0.0:0.7238:0.1792:0.097	.	1852;1853	O95996-3;O95996	.;APC2_HUMAN	V	1853;1579;1853	ENSP00000233607:A1853V;ENSP00000238483:A1579V;ENSP00000442954:A1853V	ENSP00000233607:A1853V	A	+	2	0	APC2	1419858	0.001000	0.12720	0.601000	0.28877	0.004000	0.04260	1.004000	0.29822	0.779000	0.33543	-0.287000	0.09952	GCG			0.751	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449539.2		NM_005883		T	1468858	C	T	1468858	3	4	94	1	0	0	0	0	1	0	0	0	764	768	27	1	5612	1	APC2	19	1468858	Missense_Mutation	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10		1468858	57660125	70	6673											
LONP1	257062	mdanderson.org	37	chr19	5720014	5720014	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagaggcgtcgcaggtccGctggcctcggagcaaccacg	8	4	16	13	5	0	1	0	0	0	1	3	3	1	2	3	5	2	3	3	5	1	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr19:5720014G>T	ENST00000381624.3	+	0	0				CATSPERD_ENST00000381614.2_5'Flank|LONP1_ENST00000360614.3_Silent_p.R44R|LONP1_ENST00000590729.1_5'Flank|LONP1_ENST00000593119.1_Intron|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000590511.1_5'UTR|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)											TCGCAGGTCCGCTGGCCTCGG	0.751																																					p.G44S													.	.			0			c.G130A												4	5	5					19																	5720014		1964	3892	5856	SO:0001631	upstream_gene_variant	9361	exon1			AGGTCCGCTGGCC	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.5720014G>T	Exception_encountered		101	0	0		52	0.08	4	NM_004793	51	0	0	Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	CCDS12149.2																																																																																					0.751	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000286953.2		NM_152784		T	5720014	G	T	5720014	1	4	94	0	1	0	0	0	0	0	0	0	8908	1086	38	1		1	LONP1	19	5720014	5'Flank	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	4251156	5720014	53408969	71	6674											
EMR1	2015	mdanderson.org	37	chr19	6921799	6921799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagatggacatcctttGgctgtgtgatcctggaagct	8	12	14	7	0	0	2	0	1	0	1	2	5	2	5	2	4	1	2	2	4	2	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr19:6921799G>T	ENST00000312053.4	+	14	1733	c.1696G>T	c.(1696-1698)Ggc>Tgc	p.G566C	EMR1_ENST00000250572.8_Missense_Mutation_p.G566C|EMR1_ENST00000381407.5_Missense_Mutation_p.G425C|EMR1_ENST00000450315.3_Missense_Mutation_p.G389C|EMR1_ENST00000381404.4_Missense_Mutation_p.G514C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	566	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.|Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GACATCCTTTGGCTGTGTGAT	0.458																																					p.G566C													.	.			0			c.G1696T												139	122	128					19																	6921799		2203	4300	6503	SO:0001583	missense	2015	exon14			TCCTTTGGCTGTG	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1696G>T	19.37:g.6921799G>T	ENSP00000311545:p.Gly566Cys		117	0.0085470085	1		71	0.06	4	NM_001974	3	0	0	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712109	0.68730	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	4.43	4.43	0.53597	GPS domain (3);	.	.	.	.	D	0.95020	0.8388	H	0.97611	4.04	0.37633	D	0.921765	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	0.98122	1.0426	9	0.87932	D	0	.	14.9777	0.71286	0.0:0.0:1.0:0.0	.	389;425;566;514;566	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	C	566;566;514;566;425;389	ENSP00000311545:G566C;ENSP00000370811:G514C;ENSP00000250572:G566C;ENSP00000370814:G425C;ENSP00000405974:G389C	ENSP00000250572:G566C	G	+	1	0	EMR1	6872799	1.000000	0.71417	0.804000	0.32291	0.116000	0.19942	6.068000	0.71201	2.192000	0.70111	0.650000	0.86243	GGC			0.458	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458485.1				T	6921799	G	T	6921799	3	4	94	1	0	0	0	0	1	0	0	0	5111	1348	47	3	1750	3	EMR1	19	6921799	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	1201785	6921799	52207184	72	6675											
DNMT1	1786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10260600	10260600	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccacttccagggtttcCgcatcaatgcacaccttctt	7	12	5	17	1	2	0	1	0	1	0	5	0	5	0	5	1	1	3	5	1	1	4			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr19:10260600C>A	ENST00000340748.4	-	24	2497	c.2262G>T	c.(2260-2262)gcG>gcT	p.A754A	DNMT1_ENST00000359526.4_Silent_p.A770A|DNMT1_ENST00000540357.1_Silent_p.A754A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	754	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)	CCAGGGTTTCCGCATCAATGC	0.438																																					p.A770A													DNMT1,NS,carcinoma,0,1	DNMT1	0	1	0			c.G2310T												189	162	171					19																	10260600		2203	4300	6503	SO:0001819	synonymous_variant	1786	exon25			GGTTTCCGCATCA	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.2262G>T	19.37:g.10260600C>A			274	0	0		188	0.41	77	NM_001130823	91	0.53	48	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	CCDS12228.1																																																																																					0.438	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451166.1		NM_001379		A	10260600	C	A	10260600	2	1	94	1	0	0	0	0	0	0	0	1	4680	639	23	1		1	DNMT1	19	10260600	Silent	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	3338801	10260600	48868383	73	6676											
ASF1B	55723	mdanderson.org	37	chr19	14236985	14236985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggcccaccagcaccgaGtctaggatctgatcaaattc	12	7	9	13	1	3	1	1	1	2	0	4	3	3	2	3	2	1	1	3	2	2	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr19:14236985G>T	ENST00000263382.3	-	2	673	c.174C>A	c.(172-174)gaC>gaA	p.D58E	ASF1B_ENST00000592798.1_Missense_Mutation_p.D58E|ASF1B_ENST00000474890.1_Missense_Mutation_p.D58E	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	58	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CCAGCACCGAGTCTAGGATCT	0.468																																					p.D58E													.	.			0			c.C174A												127	117	120					19																	14236985		2203	4300	6503	SO:0001583	missense	55723	exon2			CACCGAGTCTAGG	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.174C>A	19.37:g.14236985G>T	ENSP00000263382:p.Asp58Glu		83	0	0		39	0.08	3	NM_018154	106	0	0	Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	37	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800832	0.50315	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.95	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.66560	2.04	0.58432	D	0.999999	D	0.63046	0.992	D	0.76575	0.988	T	0.63180	-0.6695	9	0.30854	T	0.27	.	8.247	0.31695	0.3099:0.0:0.6901:0.0	.	58	Q9NVP2	ASF1B_HUMAN	E	58	.	ENSP00000263382:D58E	D	-	3	2	ASF1B	14097985	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	1.808000	0.38912	0.411000	0.25702	-0.140000	0.14226	GAC			0.468	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317946.1		NM_018154		T	14236985	G	T	14236985	3	4	94	1	0	0	0	0	1	0	0	0	1038	1020	36	3	446	3	ASF1B	19	14236985	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	3976385	14236985	44891998	74	6677											
KIAA0892	23383	broad.mit.edu;mdanderson.org	37	chr19	19466173	19466173	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaccacattgaggcctgCagcctccccgaacacaacct	11	5	8	17	1	0	1	0	1	0	0	1	3	1	2	6	2	4	1	6	2	2	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr19:19466173C>T	ENST00000392313.6	+	18	1919	c.1740C>T	c.(1738-1740)tgC>tgT	p.C580C	MAU2_ENST00000262815.8_Silent_p.C580C	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	580					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						TTGAGGCCTGCAGCCTCCCCG	0.607																																					p.C580C													.	MAU2	38		0			c.C1740T												97	90	93					19																	19466173		2203	4300	6503	SO:0001819	synonymous_variant	23383	exon18			GGCCTGCAGCCTC	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.1740C>T	19.37:g.19466173C>T			69	0	0		46	0.09	4	NM_015329	51	0	0	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937163	0.52972	.	.	ENSG00000129933	ENST00000262816;ENST00000499453	.	.	.	5.33	3.0	0.34707	.	.	.	.	.	T	0.63319	0.2501	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65195	-0.6227	5	0.87932	D	0	.	7.3401	0.26632	0.0:0.6784:0.0:0.3216	.	.	.	.	V	24	.	ENSP00000262816:A24V	A	+	2	0	MAU2	19327173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.417000	0.34770	1.224000	0.43551	0.561000	0.74099	GCA			0.607	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000316748.6		NM_015329		T	19466173	C	T	19466173	2	4	94	1	0	0	0	0	0	0	0	1	8211	718	25	2		2	KIAA0892	19	19466173	Silent	SNP	C	TCGA-SN-A84Y-01A-11D-A435-10	5229188	19466173	39662810	75	6678											
SPTBN4	57731	bcgsc.ca	37	chr19	41025454	41025454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagagcgcgccccgggccgGcggcgccctgcagtggcgtc	3	3	19	16	7	0	1	0	0	0	1	1	2	0	1	4	5	2	1	4	5	0	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr19:41025454G>T	ENST00000352632.3	+	16	3136	c.3050G>T	c.(3049-3051)gGc>gTc	p.G1017V	SPTBN4_ENST00000344104.3_Missense_Mutation_p.G1017V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1017V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1017V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1017V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1017					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)			ccccgggccggcggcgcccTG	0.736																																					p.G1017V													.	SPTBN4	213		0			c.G3050T												8	11	10					19																	41025454		2146	4232	6378	SO:0001583	missense	57731	exon16			GGGCCGGCGGCGC	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.3050G>T	19.37:g.41025454G>T	ENSP00000263373:p.Gly1017Val		44	0	0		33	0.12	4	NM_020971	0		0	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550769	0.86127	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.76839	-1.05;-1.03;-1.05	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000005	D	0.82481	0.5046	L	0.49126	1.545	0.80722	D	1	D;D	0.71674	0.998;0.991	P;D	0.64321	0.873;0.924	T	0.78478	-0.2188	10	0.18710	T	0.47	.	16.4166	0.83744	0.0:0.0:1.0:0.0	.	1017;1017	Q9H254;Q71S06	SPTN4_HUMAN;.	V	1017	ENSP00000263373:G1017V;ENSP00000340345:G1017V;ENSP00000340741:G1017V	ENSP00000340345:G1017V	G	+	2	0	SPTBN4	45717294	1.000000	0.71417	0.500000	0.27589	0.979000	0.70002	9.479000	0.97929	2.418000	0.82041	0.462000	0.41574	GGC			0.736	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462559.2				T	41025454	G	T	41025454	3	4	94	1	0	0	0	0	1	0	0	0	15144	1203	42	2	3108	2	SPTBN4	19	41025454	Missense_Mutation	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	21559281	41025454	18103529	76	6679											
ARHGEF1	9138	mdanderson.org	37	chr19	42399474	42399474	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgtggggatgccctctcgGgaccggaatatcggggctcc	5	7	17	12	4	1	0	0	0	1	0	4	3	2	3	3	7	1	1	3	7	2	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr19:42399474G>T	ENST00000354532.3	+	12	1078	c.930G>T	c.(928-930)cgG>cgT	p.R310R	ARHGEF1_ENST00000599846.1_Silent_p.R310R|ARHGEF1_ENST00000337665.4_Silent_p.R325R|ARHGEF1_ENST00000347545.4_Silent_p.R277R|ARHGEF1_ENST00000378152.4_Silent_p.R292R	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	310					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGCCCTCTCGGGACCGGAATA	0.617																																					p.R325R													.	.			0			c.G975T												75	82	80					19																	42399474		2203	4300	6503	SO:0001819	synonymous_variant	9138	exon12			CTCTCGGGACCGG	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.930G>T	19.37:g.42399474G>T			37	0	0		42	0.07	3	NM_199002	69	0	0	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	CCDS12591.1																																																																																					0.617	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000463360.1		NM_199002		T	42399474	G	T	42399474	2	4	94	1	0	0	0	0	0	0	0	1	893	1219	43	3		3	ARHGEF1	19	42399474	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	1374020	42399474	16729509	77	6680											
ZNF497	162968	mdanderson.org	37	chr19	58868528	58868528	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagcgtagggcttctcGccgctgtggatgcgctggtg	4	10	16	11	4	1	0	0	0	1	0	2	1	1	1	1	3	3	5	1	3	2	2			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr19:58868528G>T	ENST00000311044.3	-	3	662	c.474C>A	c.(472-474)ggC>ggA	p.G158G	A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|ZNF497_ENST00000425453.3_Silent_p.G158G|A1BG-AS1_ENST00000593374.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	158					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)		AGGGCTTCTCGCCGCTGTGGA	0.677																																					p.G158G													.	.			0			c.C474A												36	31	33					19																	58868528		2202	4300	6502	SO:0001819	synonymous_variant	162968	exon3			CTTCTCGCCGCTG	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.474C>A	19.37:g.58868528G>T			61	0	0		55	0.07	4	NM_198458	9	0	0	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Silent	SNP	ENST00000311044.3	37	CCDS12977.1																																																																																					0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466942.2		NM_198458		T	58868528	G	T	58868528	2	4	94	1	0	0	0	0	0	0	0	1	17969	1074	38	1		1	ZNF497	19	58868528	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10	16469054	58868528	260455	78	6681											
BHLHE23	128408	mdanderson.org	37	chr20	61637701	61637701	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtgcgcgtaggggatGacggctcgcagcccgtccag	5	6	18	12	5	0	1	0	1	0	0	2	2	1	2	2	4	2	4	2	4	1	1			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chr20:61637701G>T	ENST00000370346.2	-	1	686	c.378C>A	c.(376-378)gtC>gtA	p.V126V		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	126	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						CGTAGGGGATGACGGCTCGCA	0.687																																					p.V126V													.	.			0			c.C378A												25	23	24					20																	61637701		2198	4298	6496	SO:0001819	synonymous_variant	128408	exon1			GGGGATGACGGCT	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"Basic helix-loop-helix proteins"	16093	protein-coding gene	gene with protein product		609331	"basic helix-loop-helix domain containing, class B, 4"	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.378C>A	20.37:g.61637701G>T			33	0	0		24	0.13	3	NM_080606	17	0	0	B2RP69	Silent	SNP	ENST00000370346.2	37	CCDS33507.1																																																																																					0.687	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080095.2		NM_080606		T	61637701	G	T	61637701	2	4	94	1	0	0	0	0	0	0	0	1	1422	1277	45	3		3	BHLHE23	20	61637701	Silent	SNP	G	TCGA-SN-A84Y-01A-11D-A435-10		61637701	1387819	79	6682											
ZBED1	9189	broad.mit.edu	37	chrX	2406764	2406764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggtccaggccccacTccccctcgtcctggtcctcg	2	9	9	21	2	0	0	0	0	0	0	7	0	5	0	8	3	0	1	8	3	0	0			TCGA-SN-A84Y-01A-11D-A435-10	TCGA-SN-A84Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4995d11c-703d-4935-94e7-2e26ace5db9d	7490b22b-54bc-46e3-8148-e25debbab990	g.chrX:2406764T>C	ENST00000381223.4	-	2	2200	c.1997A>G	c.(1996-1998)gAg>gGg	p.E666G	ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G	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	666					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)				CAGGCCCCACTCCCCCTCGTC	0.647																																					p.E666G													.	ZBED1	64		0			c.A1997G												123	117	119					X																	2406764		2203	4296	6499	SO:0001583	missense	9189	exon2			CCCCACTCCCCCT	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.1997A>G	X.37:g.2406764T>C	ENSP00000370621:p.Glu666Gly		331	0.0090634441	3		251	0.06	14	NM_001171135	61	0	0	Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293964	0.23564	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	2.93	2.93	0.34026	.	0.000000	0.41396	U	0.000900	T	0.63260	0.2496	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.54695	-0.8255	8	0.62326	D	0.03	.	10.5576	0.45127	0.0:0.0:0.0:1.0	.	666	O96006	ZBED1_HUMAN	G	666	.	ENSP00000370616:E666G	E	-	2	0	ZBED1	2416764	0.998000	0.40836	0.762000	0.31397	0.518000	0.34316	2.741000	0.47426	0.886000	0.36113	0.347000	0.21830	GAG			0.647	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000144310.3		NM_004729		C	2406764	T	C	2406764	3	2	94	1	0	0	0	0	1	0	0	0	17541	1551	54	4	91	4	ZBED1	23	2406764	Missense_Mutation	SNP	T	TCGA-SN-A84Y-01A-11D-A435-10		2406764	152863796	80	6683											
CSMD2	114784	mdanderson.org	37	chr1	34276465	34276465	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgggcatcacacatgcggGctgcagaggagatgaaagac	12	5	16	8	1	1	4	1	1	0	3	1	5	1	4	0	4	2	3	0	4	1	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr1:34276465G>T	ENST00000373381.4	-	10	1501	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	CSMD2_ENST00000338325.1_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	402	CUB 3. {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)				ACACATGCGGGCTGCAGAGGA	0.527																																					p.A402D													.	.			0			c.C1205A												85	86	85					1																	34276465		2203	4300	6503	SO:0001630	splice_region_variant	114784	exon10			ATGCGGGCTGCAG	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.1325-1C>A	1.37:g.34276465G>T			45	0	0		49	0.06	3	NM_052896	4	0	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.484833	0.84854	.	.	ENSG00000121904	ENST00000373381	T	0.25579	1.79	5.81	4.89	0.63831	Complement control module (1);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	M	0.92412	3.305	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.73380	0.98;0.959	T	0.71925	-0.4445	10	0.59425	D	0.04	.	15.9979	0.80265	0.0:0.1348:0.8652:0.0	.	402;442	Q7Z408;E7EUA6	CSMD2_HUMAN;.	D	442	ENSP00000362479:A442D	ENSP00000241312:A402D	A	-	2	0	CSMD2	34049052	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.761000	0.98940	1.446000	0.47643	-0.274000	0.10170	GCC			0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_052896	Missense_Mutation	T	34276465	G	T	34276465	5	4	95	1	0	0	0	0	0	0	1	0	3947	1217	42	2	9498	2	CSMD2	1	34276465	Splice_Site	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		34276465	214974156	1	6684											
SUSD4	55061	mdanderson.org	37	chr1	223396687	223396687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagggtgggtgctctcttGgcacctgggaggtgaataca	8	9	16	8	0	1	1	0	1	1	0	2	2	1	2	1	5	3	3	1	5	2	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr1:223396687G>T	ENST00000343846.3	-	7	1981	c.1348C>A	c.(1348-1350)Caa>Aaa	p.Q450K	SUSD4_ENST00000454695.2_Missense_Mutation_p.Q290K|SUSD4_ENST00000494793.2_Missense_Mutation_p.Q450K|SUSD4_ENST00000366878.4_Missense_Mutation_p.Q450K|SUSD4_ENST00000484758.2_Missense_Mutation_p.Q381K|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	450						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)		GTGCTCTCTTGGCACCTGGGA	0.582																																					p.Q450K													.	.			0			c.C1348A												62	68	66					1																	223396687		2068	4216	6284	SO:0001583	missense	55061	exon8			TCTCTTGGCACCT	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.1348C>A	1.37:g.223396687G>T	ENSP00000344219:p.Gln450Lys		45	0	0		39	0.08	3	NM_017982	7	0	0	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129396	0.21041	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.29655	1.56;1.56;1.64	5.16	4.23	0.50019	.	0.442647	0.19335	N	0.116806	T	0.22513	0.0543	L	0.34521	1.04	0.80722	D	1	P	0.35433	0.501	B	0.27608	0.081	T	0.02431	-1.1160	10	0.30854	T	0.27	-0.4267	15.2746	0.73732	0.0:0.141:0.8589:0.0	.	450	Q5VX71	SUSD4_HUMAN	K	450;450;381;290	ENSP00000344219:Q450K;ENSP00000355843:Q450K;ENSP00000399288:Q290K	ENSP00000344219:Q450K	Q	-	1	0	SUSD4	221463310	1.000000	0.71417	0.873000	0.34254	0.053000	0.15095	5.764000	0.68826	1.151000	0.42436	0.655000	0.94253	CAA			0.582	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092592.2		NM_017982		T	223396687	G	T	223396687	3	4	95	1	0	0	0	0	1	0	0	0	15433	1357	47	3	132	3	SUSD4	1	223396687	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	189120222	223396687	25853934	2	6685											
WDR26	80232	broad.mit.edu	37	chr1	224581650	224581651	+	Frame_Shift_Del	DEL	GT	GT	-																															gctcacacagtttactgtacGtgtgtgccctgtcagctccg																										TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr1:224581650_224581651delGT	ENST00000414423.2	-	13	2032_2033	c.1839_1840delAC	c.(1837-1842)acacgtfs	p.R614fs	WDR26_ENST00000295024.6_Frame_Shift_Del_p.R467fs|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	614						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TTTACTGTACGTGTGTGCCCTG	0.446																																					p.613_614del													.	WDR26	104		0			c.1839_1840del																																									SO:0001589	frameshift_variant	80232	exon13			CTGTACGTGTGTG	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1839_1840delAC	1.37:g.224581654_224581655delGT	ENSP00000408108:p.Arg614fs		224	0	0		266	0.03	8	NM_025160	247	0	0	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Frame_Shift_Del	DEL	ENST00000414423.2	37	CCDS31037.2																																																																																					0.446	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000091760.2		NM_025160		-	224581651	GT	-	224581650	7	5	95	1	0	1	0	1	0	0	0	0	17307	1145	40	0	153	0	WDR26	1	224581650	Frame_Shift_Del	DEL	GT	TCGA-SO-A8JP-01A-11D-A435-10	1184963	224581650	24668971	3	6686											
OR6F1	343169	mdanderson.org	37	chr1	247875953	247875953	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccactaactgtgaggatGtacatcaccagaaaaagcat	16	9	7	9	0	1	2	1	1	0	1	1	3	1	3	2	1	4	2	2	1	5	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr1:247875953G>T	ENST00000302084.2	-	1	152	c.105C>A	c.(103-105)taC>taA	p.Y35*	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	35						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)			CTGTGAGGATGTACATCACCA	0.468																																					p.Y35X													.	.			0			c.C105A												148	145	146					1																	247875953		2203	4300	6503	SO:0001587	stop_gained	343169	exon1			GAGGATGTACATC	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.105C>A	1.37:g.247875953G>T	ENSP00000305640:p.Tyr35*		43	0	0		41	0.07	3	NM_001005286	0		0	B2RNV6|Q6IF02|Q96R39	Nonsense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673836	0.29693	.	.	ENSG00000169214	ENST00000302084	.	.	.	3.99	1.04	0.20106	.	0.000000	0.39687	N	0.001285	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.6925	8.7773	0.34769	0.2836:0.0:0.7164:0.0	.	.	.	.	X	35	.	ENSP00000305640:Y35X	Y	-	3	2	OR6F1	245942576	0.001000	0.12720	0.294000	0.24946	0.037000	0.13140	-0.413000	0.07123	0.443000	0.26582	-0.229000	0.12294	TAC			0.468	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096870.1		NM_001005286		T	247875953	G	T	247875953	4	4	95	1	0	0	0	0	0	1	0	0	11218	1372	48	3	825	3	OR6F1	1	247875953	Nonsense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	23294303	247875953	1374668	4	6687											
RNASEH1	246243	bcgsc.ca;mdanderson.org	37	chr2	3605788	3605788	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcccgaacccgcgagaGccgcggcggcagggcaaggc	10	1	15	15	6	0	1	0	0	0	1	1	3	1	1	3	4	3	2	3	4	3	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:3605788G>T	ENST00000315212.3	-	1	418	c.63C>A	c.(61-63)ggC>ggA	p.G21G	AC108488.3_ENST00000438436.1_RNA|AC108488.3_ENST00000426725.1_RNA	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	21					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		ACCCGCGAGAGCCGCGGCGGC	0.697																																					p.G21G													.	RNASEH1	27		0			c.C63A												13	14	14					2																	3605788		2189	4281	6470	SO:0001819	synonymous_variant	246243	exon1			GCGAGAGCCGCGG	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"RNase H1"	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.63C>A	2.37:g.3605788G>T			55	0	0		91	0.05	5	NM_002936	201	0	0	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	ENST00000315212.3	37	CCDS1647.1																																																																																					0.697	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206605.2				T	3605788	G	T	3605788	2	4	95	1	0	0	0	0	0	0	0	1	13434	958	34	2		2	RNASEH1	2	3605788	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		3605788	239593585	5	6688											
WDR35	57539	ucsc.edu	37	chr2	20113319	20113319	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatacagtttatcattcctTtatcccactggactatggca	11	15	5	10	0	1	0	1	0	0	0	3	1	3	1	2	2	1	2	2	2	5	8			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:20113319T>C	ENST00000345530.3	-	28	3661	c.3546A>G	c.(3544-3546)taA>taG	p.*1182*	WDR35_ENST00000281405.4_Silent_p.*1171*|WDR35_ENST00000416055.2_3'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	0					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)					TATCATTCCTTTATCCCACTG	0.363																																					p.X1182X													.	WDR35	92		0			c.A3546G												126	122	123					2																	20113319		2203	4300	6503	SO:0001819	synonymous_variant	57539	exon28			ATTCCTTTATCCC	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.3546A>G	2.37:g.20113319T>C			118	0	0		203	0	1	NM_001006657	24	0.29	7	B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	CCDS33152.1																																																																																					0.363	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000207472.2		NM_020779		C	20113319	T	C	20113319	2	2	95	1	0	0	0	0	0	0	0	1	17313	1848	64	4		4	WDR35	2	20113319	Silent	SNP	T	TCGA-SO-A8JP-01A-11D-A435-10	16507531	20113319	223086054	6	6689											
DPYSL5	56896	mdanderson.org	37	chr2	27150268	27150268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattggggcaatcgcccgcGtccatgctgaaaatggggag	10	7	14	10	3	0	1	0	1	0	0	2	2	1	2	2	4	1	2	2	4	3	1	rs144366814		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:27150268G>T	ENST00000288699.6	+	4	726	c.568G>T	c.(568-570)Gtc>Ttc	p.V190F	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V190F	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	190					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)					AATCGCCCGCGTCCATGCTGA	0.532																																					p.V190F													.	.			0			c.G568T												85	68	74					2																	27150268		2203	4300	6503	SO:0001583	missense	56896	exon4			GCCCGCGTCCATG	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.568G>T	2.37:g.27150268G>T	ENSP00000288699:p.Val190Phe		91	0	0		129	0.04	5	NM_020134	120	0	0	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339169	0.95783	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.91351	-2.83;-2.83	5.52	5.52	0.82312	Amidohydrolase 1 (1);	0.056905	0.64402	D	0.000001	D	0.95843	0.8647	M	0.85373	2.75	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	D	0.95570	0.8637	9	.	.	.	-36.6976	18.569	0.91128	0.0:0.0:1.0:0.0	.	190	Q9BPU6	DPYL5_HUMAN	F	190	ENSP00000288699:V190F;ENSP00000385549:V190F	.	V	+	1	0	DPYSL5	27003772	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	7.446000	0.80609	2.767000	0.95098	0.655000	0.94253	GTC			0.532	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214187.2		NM_020134		T	27150268	G	T	27150268	3	4	95	1	0	0	0	0	1	0	0	0	4755	1145	40	1	578	1	DPYSL5	2	27150268	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	7036949	27150268	216049105	7	6690											
HK2	3099	broad.mit.edu	37	chr2	75107420	75107420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtctacataagaccgtgCggcggctggtgcccggctgc	6	7	15	13	5	1	1	0	0	1	1	1	1	1	1	2	4	5	2	2	4	2	2	rs148796379	byFrequency	TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:75107420C>T	ENST00000290573.2	+	10	1894	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	HK2_ENST00000409174.1_Missense_Mutation_p.R404W	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	432	Hexokinase type-2 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)			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						TAAGACCGTGCGGCGGCTGGT	0.592																																					p.R432W													.	HK2	85		0			c.C1294T							C	TRP/ARG	0,4404		0,0,2202	160	180	173		1294	-0.9	0.9	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	HK2	NM_000189.4	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	432/918	75107420	1,13003	2202	4300	6502	SO:0001583	missense	3099	exon10			ACCGTGCGGCGGC		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.1294C>T	2.37:g.75107420C>T	ENSP00000290573:p.Arg432Trp		93	0	0		139	0.03	4	NM_000189	41	0.02	1	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472189	0.43942	0.0	1.16E-4	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97041	-4.22;-4.22	4.89	-0.896	0.10557	Hexokinase, C-terminal (1);	0.049777	0.85682	D	0.000000	D	0.96160	0.8748	M	0.86805	2.84	0.80722	D	1	B	0.15473	0.013	B	0.08055	0.003	D	0.91653	0.5336	10	0.56958	D	0.05	-19.21	13.8741	0.63643	0.6189:0.381:0.0:0.0	.	432	P52789	HXK2_HUMAN	W	432;432;404	ENSP00000290573:R432W;ENSP00000387140:R404W	ENSP00000290573:R432W	R	+	1	2	HK2	74960928	0.995000	0.38212	0.876000	0.34364	0.932000	0.56968	0.473000	0.22132	0.014000	0.14944	0.563000	0.77884	CGG			0.592	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252238.2		NM_000189		T	75107420	C	T	75107420	3	4	95	1	0	0	0	0	1	0	0	0	7206	759	27	1	1332	1	HK2	2	75107420	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	47957152	75107420	168091953	8	6691											
DPP4	1803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	162865128	162865128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacacttgaacacgccaCttcccgatcccaggaccatt	10	9	5	17	2	0	1	0	1	0	0	3	3	3	2	5	1	1	0	5	1	1	4			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:162865128C>T	ENST00000360534.3	-	22	2491	c.1931G>A	c.(1930-1932)aGt>aAt	p.S644N	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	644					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GAACACGCCACTTCCCGATCC	0.463																																					p.S644N													.	.			0			c.G1931A												102	89	94					2																	162865128		2203	4300	6503	SO:0001583	missense	1803	exon22			ACGCCACTTCCCG	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1931G>A	2.37:g.162865128C>T	ENSP00000353731:p.Ser644Asn		82	0	0		123	0.15	18	NM_001935	3	0	0	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802984	0.90623	.	.	ENSG00000197635	ENST00000360534	T	0.30981	1.51	5.84	5.84	0.93424	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.081102	0.85682	N	0.000000	T	0.45538	0.1347	L	0.41632	1.29	0.53688	D	0.999975	D	0.57571	0.98	P	0.57776	0.827	T	0.20306	-1.0279	10	0.54805	T	0.06	-18.3225	20.1346	0.98019	0.0:1.0:0.0:0.0	.	644	P27487	DPP4_HUMAN	N	644	ENSP00000353731:S644N	ENSP00000353731:S644N	S	-	2	0	DPP4	162573374	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.144000	0.58057	2.765000	0.95021	0.655000	0.94253	AGT			0.463	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255079.2				T	162865128	C	T	162865128	3	4	95	1	0	0	0	0	1	0	0	0	4734	565	20	3	389	3	DPP4	2	162865128	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	87757708	162865128	80334245	9	6692											
DUSP19	142679	mdanderson.org	37	chr2	183960356	183960356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcaaagaaagcaataaGtgtgacagaatacaggagaa	20	4	13	4	0	0	4	0	1	0	3	0	6	0	4	0	2	2	2	0	2	7	2	rs534821816		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:183960356G>T	ENST00000354221.4	+	4	799	c.624G>T	c.(622-624)aaG>aaT	p.K208N	AC064871.3_ENST00000413954.1_RNA|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Missense_Mutation_p.K157N	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	208					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AAAGCAATAAGTGTGACAGAA	0.393																																					p.K208N													.	.			0			c.G624T												102	99	100					2																	183960356		2203	4300	6503	SO:0001583	missense	142679	exon4			CAATAAGTGTGAC	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.624G>T	2.37:g.183960356G>T	ENSP00000346160:p.Lys208Asn		77	0	0		89	0.04	4	NM_080876	16	0	0	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450652	0.43531	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	T;T	0.14893	2.47;3.69	5.48	1.6	0.23607	.	1.039210	0.07659	N	0.933385	T	0.09642	0.0237	N	0.21282	0.65	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.41124	-0.9526	10	0.23302	T	0.38	.	1.4119	0.02293	0.2439:0.12:0.4551:0.181	.	157;208	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	N	157;208	ENSP00000343905:K157N;ENSP00000346160:K208N	ENSP00000343905:K157N	K	+	3	2	DUSP19	183668601	0.000000	0.05858	0.002000	0.10522	0.859000	0.49053	0.248000	0.18198	0.078000	0.16900	-0.291000	0.09656	AAG			0.393	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255866.1				T	183960356	G	T	183960356	3	4	95	1	0	0	0	0	1	0	0	0	4823	1020	36	3	638	3	DUSP19	2	183960356	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	21095228	183960356	59239017	10	6693											
TTLL4	9654	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	219603651	219603651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacagtcttctgtaccaagCgtatcagcattcacctcctt	10	13	5	13	1	4	0	2	0	2	0	5	0	5	0	3	0	4	3	3	0	4	6	rs200872563		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:219603651C>T	ENST00000392102.1	+	3	1592	c.1252C>T	c.(1252-1254)Cgt>Tgt	p.R418C	TTLL4_ENST00000258398.4_Missense_Mutation_p.R418C|TTLL4_ENST00000457313.1_Missense_Mutation_p.R253C|TTLL4_ENST00000442769.1_Missense_Mutation_p.R418C	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	418			R -> H (in dbSNP:rs2114664).		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)		CTGTACCAAGCGTATCAGCAT	0.522													C|||	1	0.000199681	0	0	5008	,	,		19958	0.001		0	False		,,,				2504	0				p.R418C	GBM(172;1818 2053 15407 20943 49753)												.	.			0			c.C1252T												129	125	126					2																	219603651		2203	4300	6503	SO:0001583	missense	9654	exon3			ACCAAGCGTATCA		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.1252C>T	2.37:g.219603651C>T	ENSP00000375951:p.Arg418Cys		99	0	0		147	0.04	6	NM_014640	149	0.07	10	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.94	3.260444	0.59431	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.14022	3.07;3.26;2.54;3.26	4.54	3.62	0.41486	.	0.475716	0.19742	N	0.107085	T	0.24005	0.0581	L	0.34521	1.04	0.38888	D	0.957045	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.74023	0.972;0.84;0.982	T	0.02805	-1.1108	10	0.87932	D	0	.	10.3029	0.43663	0.2468:0.7532:0.0:0.0	.	253;418;418	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	C	253;418;418;418	ENSP00000393332:R253C;ENSP00000375951:R418C;ENSP00000396555:R418C;ENSP00000258398:R418C	ENSP00000258398:R418C	R	+	1	0	TTLL4	219311895	0.526000	0.26298	0.998000	0.56505	0.985000	0.73830	1.533000	0.36040	1.030000	0.39839	0.462000	0.41574	CGT	0		0.522	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256726.1		NM_014640		T	219603651	C	T	219603651	3	4	95	1	0	0	0	0	1	0	0	0	16753	768	27	1	1254	1	TTLL4	2	219603651	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	35643295	219603651	23595722	11	6694											
CUL3	8452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	225370731	225370731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaggtattcaggagacCtggagttgaggttgagaaaa	14	9	15	3	0	1	4	1	3	0	3	1	8	1	5	1	4	0	3	1	4	3	4			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:225370731C>A	ENST00000264414.4	-	8	1486	c.1148G>T	c.(1147-1149)aGg>aTg	p.R383M	CUL3_ENST00000344951.4_Missense_Mutation_p.R317M|CUL3_ENST00000409777.1_Missense_Mutation_p.R359M|CUL3_ENST00000409096.1_Missense_Mutation_p.R359M	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	383					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)		TTCAGGAGACCTGGAGTTGAG	0.358																																					p.R389M													.	.			0			c.G1166T												78	76	77					2																	225370731		2203	4300	6503	SO:0001583	missense	8452	exon8			GGAGACCTGGAGT	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.1148G>T	2.37:g.225370731C>A	ENSP00000264414:p.Arg383Met		241	0	0		329	0.42	138	NM_001257198	192	0.46	89	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703775	0.88924	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.63	5.63	0.86233	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	M	0.85041	2.73	0.80722	D	1	D;D;D	0.61080	0.989;0.97;0.97	P;P;P	0.57776	0.735;0.827;0.827	D	0.87981	0.2743	10	0.87932	D	0	.	20.0529	0.97634	0.0:1.0:0.0:0.0	.	317;361;383	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	M	383;317;359;359	ENSP00000264414:R383M;ENSP00000343601:R317M;ENSP00000387200:R359M;ENSP00000386525:R359M	ENSP00000264414:R383M	R	-	2	0	CUL3	225078975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.701000	0.68325	2.814000	0.96858	0.591000	0.81541	AGG			0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256871.2				A	225370731	C	A	225370731	3	1	95	1	0	0	0	0	1	0	0	0	4058	681	24	3	1194	3	CUL3	2	225370731	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	5767080	225370731	17828642	12	6695											
IQCA1	79781	broad.mit.edu	37	chr2	237327853	237327855	+	In_Frame_Del	DEL	TTC	TTC	-																															tcttgggttgtttttcctttTtcttcttcttctttttgttt																										TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:237327853_237327855delTTC	ENST00000409907.3	-	8	1345_1347	c.1071_1073delGAA	c.(1069-1074)aagaaa>aaa	p.357_358KK>K	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_In_Frame_Del_p.353_354KK>K|IQCA1_ENST00000431676.2_Intron	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	357	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						Tttttcctttttcttcttcttct	0.281																																					p.364_365del													.	IQCA1	170		0			c.1092_1094del																																									SO:0001651	inframe_deletion	79781	exon8			TCCTTTTTCTTCT	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1071_1073delGAA	2.37:g.237327862_237327864delTTC	ENSP00000387347:p.Lys359del		619	0	0		785	0.01	7	NM_001270585	4	0	0	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	In_Frame_Del	DEL	ENST00000409907.3	37	CCDS46549.1																																																																																					0.281	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000329266.1		NM_024726		-	237327855	TTC	-	237327853	7	5	95	1	0	1	0	1	0	0	0	0	7817	1841	64	0	1443	0	IQCA1	2	237327853	In_Frame_Del	DEL	TTC	TCGA-SO-A8JP-01A-11D-A435-10	11957122	237327853	5871520	13	6696											
TATDN2	9797	mdanderson.org	37	chr3	10318068	10318068	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagagacagctgcagctGgctgtgtctctaaagaagcc	10	10	12	9	0	1	3	0	1	1	2	2	4	1	3	1	1	4	4	1	1	3	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:10318068G>T	ENST00000287652.4	+	5	2908	c.1857G>T	c.(1855-1857)ctG>ctT	p.L619L	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000496355.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.L619L	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	619					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGCTGCAGCTGGCTGTGTCTC	0.507																																					p.L619L													.	.			0			c.G1857T												106	108	107					3																	10318068		2203	4300	6503	SO:0001819	synonymous_variant	9797	exon5			GCAGCTGGCTGTG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1857G>T	3.37:g.10318068G>T			48	0	0		49	0.06	3	NM_014760	78	0	0	Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	CCDS33698.1																																																																																					0.507	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339641.1		XM_376203		T	10318068	G	T	10318068	2	4	95	1	0	0	0	0	0	0	0	1	15615	1335	47	3		3	TATDN2	3	10318068	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		10318068	187704362	14	6697											
ZNF619	285267	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	40519494	40519494	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacagtgtggttccaGgtgagcagagctttctttca	8	12	11	10	0	2	3	1	1	1	2	4	3	4	3	2	2	2	3	2	2	0	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:40519494G>T	ENST00000314686.5	+	0	331				ZNF619_ENST00000456778.1_Splice_Site_p.A16S|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Splice_Site_p.Q8H|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000447116.2_Splice_Site_p.Q8H|ZNF619_ENST00000521353.1_Splice_Site_p.Q8H|ZNF619_ENST00000429348.2_Splice_Site_p.Q8H			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTGGTTCCAGGTGAGCAGAG	0.498																																					p.A16S													.	.			0			c.G46T												146	127	133					3																	40519494		692	1591	2283	SO:0001623	5_prime_UTR_variant	285267	exon2			GTTCCAGGTGAGC	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.-75G>T	3.37:g.40519494G>T			106	0	0		90	0.06	5	NM_001145083	0		0	B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.370|8.370	0.835010|0.835010	0.16820|0.16820	.|.	.|.	ENSG00000177873|ENSG00000177873	ENST00000456778|ENST00000447116;ENST00000429348;ENST00000521353;ENST00000432264	T|T;T;T;T	0.06449|0.05925	3.3|3.37;3.56;3.37;3.56	2.52|2.52	2.52|2.52	0.30459|0.30459	.|.	.|.	.|.	.|.	.|.	T|T	0.17408|0.17408	0.0418|0.0418	.|.	.|.	.|.	0.29095|0.29095	N|N	0.881837|0.881837	P|D;D	0.39022|0.58970	0.655|0.984;0.984	B|D;D	0.22601|0.74674	0.04|0.984;0.984	T|T	0.01899|0.01899	-1.1251|-1.1251	8|8	0.87932|0.41790	D|T	0|0.15	.|.	8.6515|8.6515	0.34038|0.34038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	16|8;8	B4E271|C9JRN5;E9PCD9	.|.;.	S|H	16|8	ENSP00000397232:A16S|ENSP00000411132:Q8H;ENSP00000398024:Q8H;ENSP00000430705:Q8H;ENSP00000388710:Q8H	ENSP00000397232:A16S|ENSP00000398024:Q8H	A|Q	+|+	1|3	0|2	ZNF619|ZNF619	40494498|40494498	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.093000|0.093000	0.18481|0.18481	3.244000|3.244000	0.51399|0.51399	1.715000|1.715000	0.51383|0.51383	0.491000|0.491000	0.48974|0.48974	GCA|CAG			0.498	ZNF619-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000254180.2		NM_173656		T	40519494	G	T	40519494	1	4	95	0	1	0	0	0	0	0	0	0	18066	1014	35	3		3	ZNF619	3	40519494	5'UTR	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	30201426	40519494	157502936	15	6698											
ABTB1	80325	mdanderson.org	37	chr3	127396684	127396684	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtacagcgaccacactGaggtgggggctcaggcagag	11	5	15	10	1	1	2	1	1	0	1	1	3	1	2	1	4	2	3	1	4	1	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:127396684G>T	ENST00000232744.8	+	10	1113	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	ABTB1_ENST00000393363.3_Nonsense_Mutation_p.E201*|ABTB1_ENST00000468137.1_Nonsense_Mutation_p.E201*|ABTB1_ENST00000453791.2_Nonsense_Mutation_p.E201*					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CGACCACACTGAGGTGGGGGC	0.667																																					p.E343X													.	.			0			c.G1027T												29	29	29					3																	127396684		2203	4300	6503	SO:0001587	stop_gained	80325	exon10			CACACTGAGGTGG	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1027G>T	3.37:g.127396684G>T	ENSP00000232744:p.Glu343*		34	0	0		45	0.07	3	NM_172027	72	0	0		Nonsense_Mutation	SNP	ENST00000232744.8	37	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	G	41	8.970198	0.99021	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	.	.	.	5.17	5.17	0.71159	.	0.102616	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-6.0473	18.6737	0.91521	0.0:0.0:1.0:0.0	.	.	.	.	X	179;201;343;201;201	.	ENSP00000232744:E343X	E	+	1	0	ABTB1	128879374	1.000000	0.71417	0.953000	0.39169	0.978000	0.69477	6.273000	0.72581	2.394000	0.81467	0.591000	0.81541	GAG			0.667	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356595.1		NM_172027		T	127396684	G	T	127396684	4	4	95	1	0	0	0	0	0	1	0	0	102	1291	45	3	1065	3	ABTB1	3	127396684	Nonsense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	86877190	127396684	70625746	16	6699											
DNAJC13	23317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	132224196	132224196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccatatttgatatggaaCaattctacaagagcagaatt	16	12	7	6	0	1	3	0	1	1	2	2	4	2	4	1	1	3	1	1	1	7	6			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:132224196C>G	ENST00000260818.6	+	42	5183	c.4935C>G	c.(4933-4935)aaC>aaG	p.N1645K		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1645					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						TGATATGGAACAATTCTACAA	0.269																																					p.N1645K													.	.			0			c.C4935G												49	50	50					3																	132224196		2202	4287	6489	SO:0001583	missense	23317	exon42			ATGGAACAATTCT	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.4935C>G	3.37:g.132224196C>G	ENSP00000260818:p.Asn1645Lys		580	0	0		534	0.41	219	NM_015268	133	0.42	56	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.219040	0.58560	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.23147	1.92	6.16	4.17	0.49024	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.71206	2.165	0.49915	D	0.999834	B	0.26445	0.149	B	0.25140	0.058	T	0.18085	-1.0348	10	0.72032	D	0.01	.	12.0967	0.53758	0.0:0.8218:0.0:0.1782	.	1645	O75165	DJC13_HUMAN	K	1645;292	ENSP00000260818:N1645K	ENSP00000260818:N1645K	N	+	3	2	DNAJC13	133706886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.794000	0.26958	1.629000	0.50426	0.650000	0.86243	AAC			0.269	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356807.2		NM_015268		G	132224196	C	G	132224196	3	3	95	1	0	0	0	0	1	0	0	0	4637	477	17	5	5097	5	DNAJC13	3	132224196	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	4827512	132224196	65798234	17	6700											
PRR23A	729627	broad.mit.edu	37	chr3	138724758	138724758	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttccagcccagcagacGagtcgtcctgcgctcctgag	7	7	10	17	3	0	2	0	1	0	1	4	3	3	2	5	0	3	2	5	0	0	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:138724758G>T	ENST00000383163.2	-	1	352	c.353C>A	c.(352-354)tCg>tAg	p.S118*	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	118										endometrium(3)|kidney(1)|lung(7)	11						CCCAGCAGACGAGTCGTCCTG	0.612																																					p.S118X													PRR23A,NS,carcinoma,+1,1	PRR23A	35	1	0			c.C353A												37	35	35					3																	138724758		692	1591	2283	SO:0001587	stop_gained	729627	exon1			GCAGACGAGTCGT		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.353C>A	3.37:g.138724758G>T	ENSP00000372649:p.Ser118*		219	0	0		215	0.02	5	NM_001134659	29	0	0		Nonsense_Mutation	SNP	ENST00000383163.2	37	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636811	0.47049	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.75	-0.421	0.12332	.	2.599750	0.01665	N	0.025311	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.3247	0.07062	0.2772:0.2199:0.5029:0.0	.	.	.	.	X	118	.	ENSP00000372649:S118X	S	-	2	0	PRR23A	140207448	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.289000	0.18957	-0.094000	0.12374	0.484000	0.47621	TCG			0.612	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361503.1		NM_001134659		T	138724758	G	T	138724758	4	4	95	1	0	0	0	0	0	1	0	0	12614	1059	37	1	451	1	PRR23A	3	138724758	Nonsense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	6500562	138724758	59297672	18	6701											
NAALADL2	254827	mdanderson.org	37	chr3	175473106	175473106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgcgacctgctaatgatCccaaggagagagcacccatc	13	6	10	12	1	0	3	0	1	0	2	2	6	1	4	3	1	3	2	3	1	2	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:175473106C>A	ENST00000454872.1	+	13	2217	c.2089C>A	c.(2089-2091)Ccc>Acc	p.P697T		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	697						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)		TGCTAATGATCCCAAGGAGAG	0.493																																					p.P697T													.	.			0			c.C2089A												84	82	83					3																	175473106		1971	4155	6126	SO:0001583	missense	254827	exon13			AATGATCCCAAGG		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.2089C>A	3.37:g.175473106C>A	ENSP00000404705:p.Pro697Thr		76	0	0		63	0.06	4	NM_207015	0		0	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524096	0.64747	.	.	ENSG00000177694	ENST00000454872	T	0.32272	1.46	5.71	5.71	0.89125	Transferrin receptor-like, dimerisation domain (2);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	L	0.32530	0.975	0.51767	D	0.999932	D	0.89917	1.0	D	0.85130	0.997	T	0.09796	-1.0658	10	0.12766	T	0.61	-10.9565	19.8494	0.96733	0.0:1.0:0.0:0.0	.	697	Q58DX5	NADL2_HUMAN	T	697	ENSP00000404705:P697T	ENSP00000404705:P697T	P	+	1	0	NAALADL2	176955800	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	7.223000	0.78033	2.694000	0.91930	0.591000	0.81541	CCC			0.493	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347390.2		NM_207015		A	175473106	C	A	175473106	3	1	95	1	0	0	0	0	1	0	0	0	10146	855	30	3	2139	3	NAALADL2	3	175473106	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	36748348	175473106	22549324	19	6702											
FGFR3	2261	mdanderson.org	37	chr4	1803151	1803151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagctgctggccgtgccggCcgccaacaccgtccgcttcc	5	6	12	18	5	0	0	0	0	0	0	2	1	2	0	7	2	4	3	7	2	2	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr4:1803151C>T	ENST00000260795.2	+	4	605	c.503C>T	c.(502-504)gCc>gTc	p.A168V	FGFR3_ENST00000481110.2_Missense_Mutation_p.A168V|FGFR3_ENST00000440486.2_Missense_Mutation_p.A168V|FGFR3_ENST00000352904.1_Missense_Mutation_p.A168V|FGFR3_ENST00000412135.2_Missense_Mutation_p.A168V|FGFR3_ENST00000340107.4_Missense_Mutation_p.A168V			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	168	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GCCGTGCCGGCCGCCAACACC	0.692		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																												p.A168V				Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	.	.			0			c.C503T												6	6	6					4																	1803151		2043	4009	6052	SO:0001583	missense	2261	exon5	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	TGCCGGCCGCCAA	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.503C>T	4.37:g.1803151C>T	ENSP00000260795:p.Ala168Val		60	0	0		20	0.15	3	NM_022965	438	0	0	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	14.52	2.559725	0.45590	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	3.67	2.8	0.32819	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058951	0.64402	D	0.000003	T	0.70037	0.3178	L	0.41710	1.295	0.28676	N	0.905396	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.985;0.999	D;D;D;D;D;P	0.91635	0.999;0.994;0.995;0.999;0.913;0.637	T	0.66544	-0.5897	10	0.72032	D	0.01	.	13.0568	0.58984	0.0:0.8364:0.1636:0.0	.	131;168;168;168;168;168	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	V	168	ENSP00000420533:A168V;ENSP00000339824:A168V;ENSP00000414914:A168V;ENSP00000412903:A168V;ENSP00000260795:A168V;ENSP00000231803:A168V	ENSP00000260795:A168V	A	+	2	0	FGFR3	1772949	1.000000	0.71417	0.780000	0.31762	0.771000	0.43674	7.397000	0.79903	0.623000	0.30267	0.436000	0.28706	GCC			0.692	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000241632.2		NM_000142		T	1803151	C	T	1803151	3	4	95	1	0	0	0	0	1	0	0	0	5880	739	26	2	517	2	FGFR3	4	1803151	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10		1803151	189351125	20	6703											
QRFPR	84109	broad.mit.edu	37	chr4	122261656	122261656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgccacttcattttaaaAggatgcacaagtccctggtg	11	13	8	9	0	1	0	1	0	0	0	2	1	2	1	2	2	2	1	2	2	4	5			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr4:122261656A>G	ENST00000394427.2	-	2	861	c.450T>C	c.(448-450)ccT>ccC	p.P150P	QRFPR_ENST00000334383.5_Silent_p.P150P	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	150					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TCATTTTAAAAGGATGCACAA	0.468																																					p.P150P													.	QRFPR	65		0			c.T450C												133	115	121					4																	122261656		2203	4300	6503	SO:0001819	synonymous_variant	84109	exon2			TTTAAAAGGATGC	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.450T>C	4.37:g.122261656A>G			121	0	0		79	0.04	3	NM_198179	3	0	0		Silent	SNP	ENST00000394427.2	37	CCDS3719.1																																																																																					0.468	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256641.2		NM_198179		G	122261656	A	G	122261656	2	3	95	1	0	0	0	0	0	0	0	1	12901	59	3	4		4	QRFPR	4	122261656	Silent	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10	120458505	122261656	68892620	21	6704											
FBN2	2201	broad.mit.edu	37	chr5	127648441	127648441	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgcaagacagactcccAtctcctcgaggtccaaactt	10	10	8	13	1	1	2	0	0	1	2	5	3	3	2	3	1	2	2	3	1	2	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:127648441A>G	ENST00000508053.1	-	43	5738	c.4764T>C	c.(4762-4764)gaT>gaC	p.D1588D	FBN2_ENST00000262464.4_Silent_p.D1588D			P35556	FBN2_HUMAN	fibrillin 2	1588	TB 6.				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)		ACAGACTCCCATCTCCTCGAG	0.557																																					p.D1588D													.	FBN2	858		0			c.T4764C												227	226	227					5																	127648441		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon37			ACTCCCATCTCCT	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.4764T>C	5.37:g.127648441A>G			150	0	0		105	0.03	3	NM_001999	0		0	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																					0.557	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371618.2		NM_001999		G	127648441	A	G	127648441	2	3	95	1	0	0	0	0	0	0	0	1	5716	214	8	4		4	FBN2	5	127648441	Silent	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10		127648441	53266819	22	6705											
PURA	5813	mdanderson.org	37	chr5	139494333	139494333	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcagggccagaccattgcGctgcccgcgcaggggctcat	7	5	14	15	4	1	1	1	0	0	1	1	1	1	1	3	3	2	4	3	3	0	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:139494333G>A	ENST00000331327.3	+	1	626	c.567G>A	c.(565-567)gcG>gcA	p.A189A		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	189					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCATTGCGCTGCCCGCGC	0.687																																					p.A189A													PURA,NS,carcinoma,+1,1	PURA	1	1	0			c.G567A												21	24	23					5																	139494333		2201	4297	6498	SO:0001819	synonymous_variant	5813	exon1			CATTGCGCTGCCC	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.567G>A	5.37:g.139494333G>A			64	0	0		35	0.09	3	NM_005859	35	0	0		Silent	SNP	ENST00000331327.3	37	CCDS4220.1																																																																																					0.687	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251341.3		NM_005859		A	139494333	G	A	139494333	2	1	95	1	0	0	0	0	0	0	0	1	12850	1074	38	1		1	PURA	5	139494333	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	11845892	139494333	41420927	23	6706											
SLC4A9	83697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	139741434	139741434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgacaatgaggaagccCccctgagggaacaggtttgt	10	9	12	10	0	1	3	0	3	1	0	1	5	1	5	3	3	2	1	3	3	3	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:139741434C>A	ENST00000230993.6	+	4	654	c.619C>A	c.(619-621)Ccc>Acc	p.P207T	SLC4A9_ENST00000506545.1_Missense_Mutation_p.P183T|SLC4A9_ENST00000506757.2_Missense_Mutation_p.P183T|SLC4A9_ENST00000507527.1_Missense_Mutation_p.P207T|SLC4A9_ENST00000432095.2_Missense_Mutation_p.P183T	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	207					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGAAGCCCCCCTGAGGGA	0.507																																					p.P207T													.	.			0			c.C619A												128	124	125					5																	139741434		1841	4084	5925	SO:0001583	missense	83697	exon4			GAAGCCCCCCTGA	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.619C>A	5.37:g.139741434C>A	ENSP00000230993:p.Pro207Thr		288	0	0		167	0.13	22	NM_001258428	0		0	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774694	0.49786	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.63	3.74	0.42951	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	1.265650	0.05588	N	0.574141	T	0.75576	0.3868	M	0.76328	2.33	0.09310	N	1	D;P;P;P	0.57257	0.979;0.901;0.879;0.879	P;P;P;P	0.62491	0.903;0.743;0.504;0.504	T	0.53012	-0.8498	10	0.52906	T	0.07	.	5.5766	0.17227	0.1979:0.7024:0.0:0.0997	.	183;207;183;183	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	T	207;183;183;183;207	ENSP00000230993:P207T;ENSP00000424424:P183T;ENSP00000410056:P183T;ENSP00000422855:P183T;ENSP00000427661:P207T	ENSP00000230993:P207T	P	+	1	0	SLC4A9	139721618	0.000000	0.05858	0.002000	0.10522	0.353000	0.29299	0.494000	0.22467	1.136000	0.42199	0.655000	0.94253	CCC			0.507	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000372823.1		NM_031467		A	139741434	C	A	139741434	3	1	95	1	0	0	0	0	1	0	0	0	14683	623	22	3	561	3	SLC4A9	5	139741434	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	247101	139741434	41173826	24	6707											
GALNT10	55568	mdanderson.org	37	chr5	153709200	153709200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catccccttccacaacgaggGctggtcctccctcctccgca	6	8	7	20	2	0	0	0	0	0	0	6	1	6	0	7	2	1	2	7	2	1	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:153709200G>T	ENST00000297107.6	+	4	607	c.470G>T	c.(469-471)gGc>gTc	p.G157V	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.G157V|GALNT10_ENST00000377661.2_Missense_Mutation_p.G157V	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	157	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)			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)			CACAACGAGGGCTGGTCCTCC	0.577																																					p.G157V													.	.			0			c.G470T												191	138	156					5																	153709200		2203	4300	6503	SO:0001583	missense	55568	exon4			ACGAGGGCTGGTC	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.470G>T	5.37:g.153709200G>T	ENSP00000297107:p.Gly157Val		129	0	0		80	0.05	4	NM_198321	13	0	0	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958789	0.92726	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59772	0.24;0.24;0.24	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.75806	-0.3188	10	0.54805	T	0.06	.	18.9027	0.92449	0.0:0.0:1.0:0.0	.	157;157;157	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	V	157	ENSP00000415210:G157V;ENSP00000297107:G157V;ENSP00000366889:G157V	ENSP00000297107:G157V	G	+	2	0	GALNT10	153689393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.472000	0.97709	2.465000	0.83290	0.655000	0.94253	GGC			0.577	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252453.1		NM_198321		T	153709200	G	T	153709200	3	4	95	1	0	0	0	0	1	0	0	0	6222	1203	42	2	484	2	GALNT10	5	153709200	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	13967766	153709200	27206060	25	6708											
RAB24	53917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	176729427	176729427	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctggacgtcgtggaagTccacacgtcgacgcctccgg	7	7	13	14	6	0	0	0	0	0	0	5	3	3	2	4	3	0	0	4	3	1	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:176729427T>G	ENST00000303251.6	-	5	823	c.404A>C	c.(403-405)gAc>gCc	p.D135A	PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000393611.2_Missense_Mutation_p.D135A|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000303270.6_Missense_Mutation_p.D106A	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	135					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-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)			GTCGTGGAAGTCCACACGTCG	0.567																																					p.D135A													.	.			0			c.A404C												104	105	104					5																	176729427		2203	4300	6503	SO:0001583	missense	53917	exon5			TGGAAGTCCACAC	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"RAB, member RAS oncogene"	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.404A>C	5.37:g.176729427T>G	ENSP00000304376:p.Asp135Ala		78	0	0		57	0.07	4	NM_001031677	46	0.13	6	Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022333	0.75275	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.76186	-1.0;-1.0;-1.0	5.13	5.13	0.70059	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.63402	0.2508	N	0.20986	0.625	0.80722	D	1	P;P	0.49307	0.752;0.922	B;B	0.43052	0.388;0.406	T	0.63283	-0.6672	10	0.27785	T	0.31	-20.5339	14.9316	0.70919	0.0:0.0:0.0:1.0	.	135;106	Q969Q5;F8W8H5	RAB24_HUMAN;.	A	135;135;106	ENSP00000377235:D135A;ENSP00000304376:D135A;ENSP00000302085:D106A	ENSP00000304376:D135A	D	-	2	0	RAB24	176662033	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.590000	0.82653	1.933000	0.56026	0.454000	0.30748	GAC			0.567	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253416.1		NM_130781		G	176729427	T	G	176729427	3	3	95	1	0	0	0	0	1	0	0	0	12934	1667	58	4	223	4	RAB24	5	176729427	Missense_Mutation	SNP	T	TCGA-SO-A8JP-01A-11D-A435-10	23020227	176729427	4185833	26	6709											
MGAT4B	11282	ucsc.edu	37	chr5	179226299	179226299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcaggttggctttctgccgGtcacagtgcttctgtggagg	4	12	15	10	2	3	0	1	0	2	0	3	1	3	1	1	5	2	4	1	5	0	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:179226299G>T	ENST00000292591.7	-	10	1403	c.1053C>A	c.(1051-1053)gaC>gaA	p.D351E	MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.D366E|MGAT4B_ENST00000521305.1_5'Flank	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	351					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTTCTGCCGGTCACAGTGCT	0.627																																					p.D366E	GBM(13;414 434 4098 22176 23230)												.	MGAT4B	41		0			c.C1098A												74	73	73					5																	179226299		2201	4300	6501	SO:0001583	missense	11282	exon9			CTGCCGGTCACAG	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7048	protein-coding gene	gene with protein product		604561	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1053C>A	5.37:g.179226299G>T	ENSP00000292591:p.Asp351Glu		60	0	0		42	0.1	4	NM_054013	216	0	0	A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	CCDS4448.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.37|14.37|14.37	2.513846|2.513846|2.513846	0.44763|0.44763|0.44763	.|.|.	.|.|.	ENSG00000161013|ENSG00000161013|ENSG00000161013	ENST00000337755;ENST00000292591|ENST00000518778;ENST00000518867|ENST00000520969	T;T|.|.	0.40756|.|.	1.02;1.02|.|.	3.74|3.74|3.74	0.513|0.513|0.513	0.17000|0.17000|0.17000	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.47967|0.47967|0.47967	0.1474|0.1474|0.1474	L|L|L	0.33137|0.33137|0.33137	0.985|0.985|0.985	0.50467|0.50467|0.50467	D|D|D	0.999871|0.999871|0.999871	P;B;D|.|.	0.61697|.|.	0.884;0.005;0.99|.|.	P;B;D|.|.	0.72625|.|.	0.608;0.019;0.978|.|.	T|T|T	0.25152|0.25152|0.25152	-1.0140|-1.0140|-1.0140	10|5|5	0.25106|.|.	T|.|.	0.35|.|.	-34.5428|-34.5428|-34.5428	8.7735|8.7735|8.7735	0.34747|0.34747|0.34747	0.4723:0.0:0.5277:0.0|0.4723:0.0:0.5277:0.0|0.4723:0.0:0.5277:0.0	.|.|.	351;366;350|.|.	Q9UQ53;A8MPR0;Q9UQ53-2|.|.	MGT4B_HUMAN;.;.|.|.	E|T|N	366;351|176;163|48	ENSP00000338487:D366E;ENSP00000292591:D351E|.|.	ENSP00000292591:D351E|.|.	D|P|T	-|-|-	3|1|2	2|0|0	MGAT4B|MGAT4B|MGAT4B	179158905|179158905|179158905	0.975000|0.975000|0.975000	0.34042|0.34042|0.34042	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.945000|0.945000|0.945000	0.59286|0.59286|0.59286	0.160000|0.160000|0.160000	0.16462|0.16462|0.16462	0.223000|0.223000|0.223000	0.20920|0.20920|0.20920	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAC|CCG|ACC			0.627	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253503.3		NM_014275		T	179226299	G	T	179226299	3	4	95	1	0	0	0	0	1	0	0	0	9562	1252	44	3	617	3	MGAT4B	5	179226299	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	2496872	179226299	1688961	27	6710											
DPCR1	135656	hgsc.bcm.edu	37	chr6	30917807	30917807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagagcctacagaacaCggagaaaggaccccactggc	14	3	11	13	1	1	3	1	0	0	3	1	5	1	4	3	3	4	1	3	3	3	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr6:30917807C>T	ENST00000462446.1	+	2	1594	c.1566C>T	c.(1564-1566)caC>caT	p.H522H	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	268						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CTACAGAACACGGAGAAAGGA	0.512																																					p.H522H													.	.			0			c.C1566T												70	79	77					6																	30917807		692	1591	2283	SO:0001819	synonymous_variant	135656	exon2			AGAACACGGAGAA	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1566C>T	6.37:g.30917807C>T			88	0	0		74	0.08	6	NM_080870	0		0	C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	CCDS4692.2																																																																																					0.512	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000076173.3		NM_080870		T	30917807	C	T	30917807	2	4	95	1	0	0	0	0	0	0	0	1	4717	535	19	1		1	DPCR1	6	30917807	Silent	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10		30917807	140197260	28	6711											
LY6G5B	58496	broad.mit.edu	37	chr6	31639910	31639910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaatttccatgctgggAcggagcctgatggcctggac	7	9	12	13	1	0	1	0	1	0	0	2	4	2	4	5	4	2	1	5	4	1	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr6:31639910A>G	ENST00000375864.4	+	3	1241	c.457A>G	c.(457-459)Acg>Gcg	p.T153A	CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR|LY6G5B_ENST00000409525.1_Missense_Mutation_p.T98A	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	153						extracellular region (GO:0005576)				lung(4)	4						CCATGCTGGGACGGAGCCTGA	0.592																																					p.T153A													.	LY6G5B	8		0			c.A457G												77	67	70					6																	31639910		1511	2708	4219	SO:0001583	missense	58496	exon3			GCTGGGACGGAGC	AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"chromosome 6 open reading frame 19"	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.457A>G	6.37:g.31639910A>G	ENSP00000365024:p.Thr153Ala		203	0.0049261084	1		176	0.03	5	NM_021221	69	0	0	B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	ENST00000375864.4	37	CCDS34400.1	.	.	.	.	.	.	.	.	.	.	A	9.514	1.106548	0.20714	.	.	ENSG00000240053	ENST00000409691;ENST00000375864;ENST00000409525	T;T	0.22539	1.96;1.95	4.3	0.66	0.17868	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.39375	-0.9617	8	0.51188	T	0.08	-0.6858	5.8594	0.18738	0.6611:0.0:0.3389:0.0	.	153	Q8NDX9	LY65B_HUMAN	A	150;153;98	ENSP00000365024:T153A;ENSP00000386365:T98A	ENSP00000365024:T153A	T	+	1	0	LY6G5B	31747889	0.001000	0.12720	0.072000	0.20136	0.629000	0.37895	-0.243000	0.08915	0.296000	0.22592	0.379000	0.24179	ACG			0.592	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000124389.4				G	31639910	A	G	31639910	3	3	95	1	0	0	0	0	1	0	0	0	9108	275	10	4	467	4	LY6G5B	6	31639910	Missense_Mutation	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10	722103	31639910	139475157	29	6712											
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	66094357	66094357	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtttacagtggtcaattgcTttctcacagtttttttcagt	8	19	7	7	0	3	0	3	0	1	0	4	0	3	0	0	1	2	3	0	1	2	7			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr6:66094357T>A	ENST00000370621.3	-	8	1747	c.1221A>T	c.(1219-1221)aaA>aaT	p.K407N	EYS_ENST00000503581.1_Missense_Mutation_p.K407N|EYS_ENST00000370616.2_Missense_Mutation_p.K407N|EYS_ENST00000393380.2_Missense_Mutation_p.K407N|EYS_ENST00000370618.3_Missense_Mutation_p.K407N|EYS_ENST00000342421.5_Missense_Mutation_p.K407N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	407					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGTCAATTGCTTTCTCACAGT	0.289																																					p.K407N													.	.			0			c.A1221T												91	87	88					6																	66094357		2202	4295	6497	SO:0001583	missense	346007	exon8			AATTGCTTTCTCA		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1221A>T	6.37:g.66094357T>A	ENSP00000359655:p.Lys407Asn		81	0	0		85	0.35	30	NM_001142801	0		0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	T	14.13	2.442920	0.43326	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	6.07	3.66	0.41972	.	.	.	.	.	T	0.14614	0.0353	L	0.28608	0.87	0.24154	N	0.99569	D;D;D	0.63880	0.96;0.993;0.988	P;P;P	0.57057	0.663;0.812;0.654	T	0.03981	-1.0987	9	0.17369	T	0.5	.	5.4184	0.16386	0.128:0.1402:0.0:0.7318	.	407;407;407	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	407	ENSP00000424243:K407N;ENSP00000359655:K407N;ENSP00000359650:K407N;ENSP00000377042:K407N;ENSP00000341818:K407N;ENSP00000359652:K407N	ENSP00000341818:K407N	K	-	3	2	EYS	66151078	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	1.923000	0.40055	1.114000	0.41781	0.533000	0.62120	AAA			0.289	EYS-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351351.3		XM_294050		A	66094357	T	A	66094357	3	1	95	1	0	0	0	0	1	0	0	0	5339	1606	56	5	8319	5	EYS	6	66094357	Missense_Mutation	SNP	T	TCGA-SO-A8JP-01A-11D-A435-10	34454447	66094357	105020710	30	6713											
TMEM200A	114801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	130762743	130762743	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccttgcatttgctctcGtcacactcaaagtccttgga	9	13	6	13	1	3	0	2	0	1	0	6	1	5	1	2	1	2	2	2	1	1	3	rs141571184		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr6:130762743G>T	ENST00000296978.3	+	3	2047	c.1176G>T	c.(1174-1176)tcG>tcT	p.S392S	TMEM200A_ENST00000545622.1_Silent_p.S392S|TMEM200A_ENST00000392429.1_Silent_p.S392S	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	392						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTTGCTCTCGTCACACTCAA	0.527																																					p.S392S													.	.			0			c.G1176T												88	82	84					6																	130762743		2203	4300	6503	SO:0001819	synonymous_variant	114801	exon3			GCTCTCGTCACAC	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1176G>T	6.37:g.130762743G>T			65	0	0		63	0.32	20	NM_001258277	4	0.5	2	Q96PX5	Silent	SNP	ENST00000296978.3	37	CCDS5140.1																																																																																					0.527	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042201.1		NM_052913		T	130762743	G	T	130762743	2	4	95	1	0	0	0	0	0	0	0	1	16146	1132	40	1		1	TMEM200A	6	130762743	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	64668386	130762743	40352324	31	6714											
PLEKHA8	84725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr7	30129789	30129789	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccaacagaaaacactTgacaccaaaacataccctga	20	5	4	12	0	0	3	0	2	0	1	1	4	1	3	3	0	4	0	3	0	7	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr7:30129789T>G	ENST00000258679.7	+	13	1722	c.1321T>G	c.(1321-1323)Tga>Gga	p.*441G	PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Intron	NM_032639.3	NP_116028.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	0	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						agaaaacacttgacaccaaaa	0.368																																					p.X441G													.	.			0			c.T1321G												108	100	103					7																	30129789		1327	2309	3636	SO:0001578	stop_lost	84725	exon13			AACACTTGACACC	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000258679.7:c.1321T>G	7.37:g.30129789T>G	ENSP00000258679:p.*441Glyext*6		249	0	0		332	0.11	38	NM_032639	2	0.5	1	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000258679.7	37	CCDS5424.1	.	.	.	.	.	.	.	.	.	.	T	1.535	-0.543404	0.04053	.	.	ENSG00000106086	ENST00000258679	.	.	.	1.01	-0.352	0.12598	.	.	.	.	.	.	.	.	.	.	.	0.20975	N	0.999817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6957	0.08364	0.0:0.0:0.4096:0.5904	.	.	.	.	G	441	.	.	X	+	1	0	PLEKHA8	30096314	0.023000	0.18921	0.276000	0.24689	0.158000	0.22134	0.318000	0.19504	-0.106000	0.12110	0.421000	0.28195	TGA			0.368	PLEKHA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000214982.1		NM_032639		G	30129789	T	G	30129789	4	3	95	1	0	0	0	0	0	0	0	0	12079	1825	63	4	1371	4	PLEKHA8	7	30129789	Nonstop_Mutation	SNP	T	TCGA-SO-A8JP-01A-11D-A435-10		30129789	129008874	32	6715											
ARHGEF5	7984	broad.mit.edu	37	chr7	144062343	144062343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccaaagtccagggggAggagcaggagcactcgggga	10	3	17	11	1	0	0	0	0	0	0	2	4	1	4	3	6	3	2	3	6	1	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr7:144062343A>G	ENST00000056217.5	+	2	2755	c.2581A>G	c.(2581-2583)Agg>Ggg	p.R861G	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	861					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GTCCAGGGGGAGGAGCAGGAG	0.592																																					p.R861G													.	ARHGEF5	73		0			c.A2581G												65	74	71					7																	144062343		2201	4298	6499	SO:0001583	missense	7984	exon2			AGGGGGAGGAGCA	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2581A>G	7.37:g.144062343A>G	ENSP00000056217:p.Arg861Gly		563	0.0035523979	2		567	0.01	6	NM_005435	39	0	0	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	A	7.375	0.627694	0.14257	.	.	ENSG00000050327	ENST00000056217	T	0.80304	-1.36	4.05	2.84	0.33178	.	0.352939	0.23012	N	0.052959	T	0.75459	0.3852	L	0.34521	1.04	0.24573	N	0.993913	D	0.60160	0.987	P	0.51516	0.672	T	0.66705	-0.5856	10	0.66056	D	0.02	-11.7374	7.2598	0.26197	0.7739:0.2261:0.0:0.0	.	861	Q12774	ARHG5_HUMAN	G	861	ENSP00000056217:R861G	ENSP00000056217:R861G	R	+	1	2	ARHGEF5	143693276	0.003000	0.15002	0.219000	0.23793	0.011000	0.07611	0.645000	0.24782	0.583000	0.29574	0.454000	0.30748	AGG			0.592	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349981.1		NM_005435		G	144062343	A	G	144062343	3	3	95	1	0	0	0	0	1	0	0	0	909	295	11	4	2583	4	ARHGEF5	7	144062343	Missense_Mutation	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10	113932554	144062343	15076320	33	6716											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	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																																					p.S741T													DLC1,bladder,carcinoma,0,3	DLC1	411	3	0			c.G2222C												56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395	exon9			CTGCTGCTGGTCT	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		76	0	0		89	0.04	4	NM_182643	18	0	0	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	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		G	12957624	C	G	12957624	3	3	95	1	0	0	0	0	1	0	0	0	4555	797	28	5	2404	5	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10		12957624	133406398	34	6717											
CA8	767	broad.mit.edu	37	chr8	61144876	61144876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgatggcgattccgtgCggcttccccacagcctcatc	7	9	10	15	3	1	1	1	1	0	0	4	2	3	1	4	2	2	2	4	2	1	2	rs537454715	byFrequency	TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr8:61144876C>T	ENST00000317995.4	-	4	744	c.480G>A	c.(478-480)ccG>ccA	p.P160P	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	160					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	CGATTCCGTGCGGCTTCCCCA	0.433													C|||	2	0.000399361	0.0015	0	5008	,	,		18401	0		0	False		,,,				2504	0				p.P160P													.	CA8	31		0			c.G480A												181	168	173					8																	61144876		2203	4300	6503	SO:0001819	synonymous_variant	767	exon4			TCCGTGCGGCTTC	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.480G>A	8.37:g.61144876C>T			107	0	0		161	0.02	4	NM_004056	8	0	0	A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	ENST00000317995.4	37	CCDS6174.1																																																																																					0.433	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383445.1				T	61144876	C	T	61144876	2	4	95	1	0	0	0	0	0	0	0	1	2525	755	27	1		1	CA8	8	61144876	Silent	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	48187252	61144876	85219146	35	6718											
PTPRD	5789	mdanderson.org	37	chr9	8376014	8376014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaagctagaaaaggtgtaGggtgttctggaacaccatga	15	8	13	5	0	1	3	0	1	1	2	1	4	1	4	1	3	2	3	1	3	6	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:8376014G>T	ENST00000381196.4	-	36	5126	c.4583C>A	c.(4582-4584)cCt>cAt	p.P1528H	PTPRD_ENST00000360074.4_Missense_Mutation_p.P1515H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1506H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P1122H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P1121H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P1121H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1528H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1528H|PTPRD_ENST00000397606.3_Missense_Mutation_p.P1121H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P1118H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P1118H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1528	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAAGGTGTAGGGTGTTCTGG	0.468										TSP Lung(15;0.13)																											p.P1528H													.	.			0			c.C4583A												126	111	116					9																	8376014		2203	4299	6502	SO:0001583	missense	5789	exon39			GGTGTAGGGTGTT	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.4583C>A	9.37:g.8376014G>T	ENSP00000370593:p.Pro1528His		100	0	0		119	0.04	5	NM_002839	1	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446617	0.84101	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.71	5.71	0.89125	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	H	0.96489	3.83	0.80722	D	1	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	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;0.993;0.999;0.999;0.999	T	0.80460	-0.1373	9	.	.	.	.	19.8352	0.96655	0.0:0.0:1.0:0.0	.	1121;1112;1121;1122;1118;1118;1515;1528;1528	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1528;1528;1515;1506;1122;1121;1118;1118;999;1528;1121;1121	ENSP00000370593:P1528H;ENSP00000348812:P1528H;ENSP00000353187:P1515H;ENSP00000351293:P1506H;ENSP00000347373:P1122H;ENSP00000380741:P1121H;ENSP00000380735:P1118H;ENSP00000440515:P1118H;ENSP00000438164:P1528H;ENSP00000417093:P1121H;ENSP00000380731:P1121H	.	P	-	2	0	PTPRD	8366014	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.813000	0.99286	2.698000	0.92095	0.585000	0.79938	CCT			0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055395.3				T	8376014	G	T	8376014	3	4	95	1	0	0	0	0	1	0	0	0	12822	1000	35	3	1187	3	PTPRD	9	8376014	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		8376014	132837417	36	6719											
ALDH1A1	216	mdanderson.org	37	chr9	75543822	75543822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttaccaattggtattgtaCggccctggatcttgtcagcc	8	13	9	11	1	2	0	1	0	1	0	2	1	2	1	3	3	3	2	3	3	4	6	rs149236405		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:75543822C>T	ENST00000297785.3	-	4	482	c.428G>A	c.(427-429)cGt>cAt	p.R143H	ALDH1A1_ENST00000376939.1_Missense_Mutation_p.R143H|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	143					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TGGTATTGTACGGCCCTGGAT	0.413																																					p.R143H													.	.			0			c.G428A							C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	174	156	162		428	3.2	0	9	dbSNP_134	162	0,8600		0,0,4300	no	missense	ALDH1A1	NM_000689.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	143/502	75543822	1,13005	2203	4300	6503	SO:0001583	missense	216	exon4			ATTGTACGGCCCT	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.428G>A	9.37:g.75543822C>T	ENSP00000297785:p.Arg143His		121	0.0082644628	1		91	0.04	4	NM_000689	15	0	0	O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463208	0.63513	2.27E-4	0.0	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.03	3.15	0.36227	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.159128	0.45361	D	0.000365	T	0.68284	0.2984	L	0.58354	1.805	0.09310	N	1	P	0.35493	0.505	B	0.26310	0.068	T	0.61451	-0.7060	10	0.72032	D	0.01	.	8.5513	0.33453	0.0:0.7345:0.1274:0.1381	.	143	P00352	AL1A1_HUMAN	H	143;143;157;143;143	ENSP00000297785:R143H;ENSP00000366138:R143H;ENSP00000388026:R143H;ENSP00000401361:R143H	ENSP00000297785:R143H	R	-	2	0	ALDH1A1	74733642	0.057000	0.20700	0.036000	0.18154	0.809000	0.45718	0.391000	0.20784	0.403000	0.25479	0.655000	0.94253	CGT	0		0.413	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052679.1				T	75543822	C	T	75543822	3	4	95	1	0	0	0	0	1	0	0	0	490	536	19	1	1117	1	ALDH1A1	9	75543822	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	67167808	75543822	65669609	37	6720											
PHF2	5253	broad.mit.edu	37	chr9	96408040	96408040	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgtcccggcccccacGttctatgtcagtgacgtcga	5	10	11	15	4	2	1	1	1	1	0	4	2	3	1	3	2	0	2	3	2	1	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:96408040G>T	ENST00000359246.4	+	4	796	c.429G>T	c.(427-429)acG>acT	p.T143T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	143					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CGGCCCCCACGTTCTATGTCA	0.622																																					p.T143T													.	PHF2	113		0			c.G429T												62	57	59					9																	96408040		2203	4300	6503	SO:0001819	synonymous_variant	5253	exon4			CCCCACGTTCTAT	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.429G>T	9.37:g.96408040G>T			79	0	0		57	0.05	3	NM_005392	69	0.01	1	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	CCDS35069.1																																																																																					0.622	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053162.1		NM_005392		T	96408040	G	T	96408040	2	4	95	1	0	0	0	0	0	0	0	1	11847	1132	40	1		1	PHF2	9	96408040	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	20864218	96408040	44805391	38	6721											
KIAA1529	100499483	mdanderson.org	37	chr9	100075592	100075592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagctacgagagcgctctgGccagctttcaggaggagatt	10	8	14	9	2	2	3	1	0	1	3	2	6	2	4	1	3	4	3	1	3	1	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:100075592G>T	ENST00000357054.1	+	19	1908	c.973G>T	c.(973-975)Gcc>Tcc	p.A325S	CCDC180_ENST00000529487.1_Missense_Mutation_p.A186S|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.A186S|CCDC180_ENST00000411667.2_Missense_Mutation_p.A186S|CCDC180_ENST00000395220.1_Missense_Mutation_p.A325S|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	325						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GAGCGCTCTGGCCAGCTTTCA	0.537																																					p.A186S													.	.			0			c.G556T												135	108	117					9																	100075592		2203	4300	6503	SO:0001583	missense	0	exon5			GCTCTGGCCAGCT	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.973G>T	9.37:g.100075592G>T	ENSP00000349562:p.Ala325Ser		70	0	0		39	0.08	3	NM_020893	3	0	0	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	G	9.904	1.207614	0.22205	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.71	1.31	0.21738	.	1.387640	0.04358	N	0.357035	T	0.17323	0.0416	L	0.35414	1.06	0.19300	N	0.999972	B;B;B;B	0.28850	0.225;0.225;0.225;0.225	B;B;B;B	0.23716	0.048;0.048;0.048;0.048	T	0.20306	-1.0279	10	0.09590	T	0.72	-0.5367	6.4714	0.22009	0.4329:0.0:0.5671:0.0	.	186;325;186;325	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	S	325;325;186;186;209;186	ENSP00000349562:A325S;ENSP00000378646:A325S;ENSP00000364348:A186S;ENSP00000414000:A186S;ENSP00000434727:A186S	ENSP00000349562:A325S	A	+	1	0	C9orf174	99115413	0.063000	0.20901	0.195000	0.23364	0.110000	0.19582	0.122000	0.15687	0.453000	0.26858	0.561000	0.74099	GCC			0.537	CCDC180-201	KNOWN	basic	protein_coding	protein_coding				NM_020893		T	100075592	G	T	100075592	3	4	95	1	0	0	0	0	1	0	0	0	8255	1203	42	2	1003	2	KIAA1529	9	100075592	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	3667552	100075592	41137839	39	6722											
NUP188	23511	mdanderson.org	37	chr9	131764184	131764184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccacagcagtggctggaGctggcatcacccagagcatt	10	6	13	12	0	1	1	1	0	0	1	1	3	1	2	2	3	4	5	2	3	0	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:131764184G>T	ENST00000372577.2	+	36	4087	c.4066G>T	c.(4066-4068)Gct>Tct	p.A1356S	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1356					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGTGGCTGGAGCTGGCATCAC	0.602																																					p.A1356S													.	.			0			c.G4066T												60	53	55					9																	131764184		2202	4300	6502	SO:0001583	missense	23511	exon36			GCTGGAGCTGGCA	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4066G>T	9.37:g.131764184G>T	ENSP00000361658:p.Ala1356Ser		87	0	0		43	0.07	3	NM_015354	139	0.01	1	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130884	0.56828	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.28895	1.59	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	L	0.53249	1.67	0.80722	D	1	P;D	0.63880	0.473;0.993	B;D	0.72625	0.091;0.978	T	0.21484	-1.0244	10	0.18276	T	0.48	-23.6569	17.1107	0.86674	0.0:0.0:1.0:0.0	.	689;1356	E9PET9;Q5SRE5	.;NU188_HUMAN	S	1245;1356	ENSP00000361658:A1356S	ENSP00000349125:A1245S	A	+	1	0	NUP188	130804005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.929000	0.92859	2.619000	0.88677	0.462000	0.41574	GCT			0.602	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054529.2				T	131764184	G	T	131764184	3	4	95	1	0	0	0	0	1	0	0	0	10775	971	34	2	4208	2	NUP188	9	131764184	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	31688592	131764184	9449247	40	6723											
MED27	9442	bcgsc.ca	37	chr9	134814839	134814839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacatcctgtcaatgcGgctgatcacatcatcaacat	14	9	7	11	1	4	1	4	1	0	0	5	2	5	2	1	2	3	1	1	2	3	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:134814839G>A	ENST00000292035.5	-	4	565	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	MED27_ENST00000357028.2_Missense_Mutation_p.R168C	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	168					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTGTCAATGCGGCTGATCACA	0.383																																					p.R168C	Colon(41;784 923 6932 42329 52483)												.	MED27	37		0			c.C502T												123	101	108					9																	134814839		2203	4300	6503	SO:0001583	missense	9442	exon4			CAATGCGGCTGAT	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.502C>T	9.37:g.134814839G>A	ENSP00000292035:p.Arg168Cys		52	0	0		43	0.09	4	NM_001253881	24	0	0	O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437161	0.83885	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	L	0.44542	1.39	0.80722	D	1	B;D;B	0.69078	0.006;0.997;0.001	B;P;B	0.52881	0.001;0.712;0.0	T	0.64483	-0.6397	9	0.52906	T	0.07	-6.7662	18.372	0.90409	0.0:0.0:1.0:0.0	.	168;168;168	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	C	168;130;168	.	ENSP00000292035:R168C	R	-	1	0	MED27	133804660	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.004000	0.88535	2.644000	0.89710	0.655000	0.94253	CGC			0.383	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054770.2		NM_004269		A	134814839	G	A	134814839	3	1	95	1	0	0	0	0	1	0	0	0	9461	1116	39	1	453	1	MED27	9	134814839	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	3050655	134814839	6398592	41	6724											
COL5A1	1289	mdanderson.org	37	chr9	137696858	137696858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcctccctgggaaagatgGccctccaggattacgtggtt	8	9	13	11	1	0	1	0	0	0	1	2	3	2	3	4	5	1	1	4	5	2	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:137696858G>T	ENST00000371817.3	+	40	3566	c.3152G>T	c.(3151-3153)gGc>gTc	p.G1051V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1051	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)		GGGAAAGATGGCCCTCCAGGA	0.617																																					p.G1051V													.	.			0			c.G3152T												57	52	54					9																	137696858		2203	4300	6503	SO:0001583	missense	1289	exon40			AAGATGGCCCTCC	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.3152G>T	9.37:g.137696858G>T	ENSP00000360882:p.Gly1051Val		88	0	0		67	0.06	4	NM_000093	170	0	0	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808466	0.70797	.	.	ENSG00000130635	ENST00000371817	D	0.99637	-6.29	5.12	5.12	0.69794	.	0.000000	0.85682	U	0.000000	D	0.99829	0.9923	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96566	0.9419	10	0.87932	D	0	.	18.5537	0.91075	0.0:0.0:1.0:0.0	.	1051	P20908	CO5A1_HUMAN	V	1051	ENSP00000360882:G1051V	ENSP00000360882:G1051V	G	+	2	0	COL5A1	136836679	1.000000	0.71417	0.594000	0.28785	0.982000	0.71751	9.691000	0.98679	2.390000	0.81377	0.446000	0.29264	GGC			0.617	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054954.2		NM_000093		T	137696858	G	T	137696858	3	4	95	1	0	0	0	0	1	0	0	0	3698	1203	42	2	3310	2	COL5A1	9	137696858	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	2882019	137696858	3516573	42	6725											
TUBB8	347688	broad.mit.edu	37	chr10	93106	93106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgttgctctcggcctcgGtgaattccatctcatccatg	6	14	8	13	2	3	1	2	1	2	0	8	1	5	1	3	2	1	2	3	2	1	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:93106G>A	ENST00000309812.4	-	4	1288	c.1226C>T	c.(1225-1227)aCc>aTc	p.T409I	TUBB8_ENST00000447903.2_Missense_Mutation_p.T337I|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	409					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTCGGCCTCGGTGAATTCCAT	0.552																																					p.T409I	Pancreas(192;2041 3010 9013 18103)												.	TUBB8	62		0			c.C1226T												24	26	25					10																	93106		2185	4252	6437	SO:0001583	missense	347688	exon4			GCCTCGGTGAATT	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1226C>T	10.37:g.93106G>A	ENSP00000311042:p.Thr409Ile		85	0	0		52	0.06	3	NM_177987	63	0	0	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280088	0.40294	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.71934	-0.61	.	.	.	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	U	0.000010	T	0.77798	0.4184	M	0.71206	2.165	0.36139	D	0.846632	D;D	0.67145	0.995;0.996	D;P	0.70487	0.969;0.859	T	0.77981	-0.2383	9	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	372;409	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	I	337;375;372;409	ENSP00000403895:T337I	ENSP00000272035:T375I	T	-	2	0	RP11-631M21.2	83106	1.000000	0.71417	0.519000	0.27824	0.523000	0.34469	6.543000	0.73874	0.119000	0.18210	0.121000	0.15741	ACC			0.552	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467795.1		NM_177987		A	93106	G	A	93106	3	1	95	1	0	0	0	0	1	0	0	0	16785	1261	44	3	112	3	TUBB8	10	93106	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		93106	135441641	43	6726											
C10orf18	54906	mdanderson.org	37	chr10	5790488	5790488	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatggtgagcctgaagctGagttacataaagaaaccaca	17	7	10	7	0	0	5	0	3	0	2	0	5	0	5	2	1	4	2	2	1	6	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:5790488G>T	ENST00000328090.5	+	15	5729	c.5104G>T	c.(5104-5106)Gag>Tag	p.E1702*		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1702																	GCCTGAAGCTGAGTTACATAA	0.478																																					p.E1702X													.	.			0			c.G5104T												54	55	55					10																	5790488		2109	4238	6347	SO:0001587	stop_gained	54906	exon15			GAAGCTGAGTTAC	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.5104G>T	10.37:g.5790488G>T	ENSP00000328426:p.Glu1702*		38	0.0263157895	1		30	0.1	3	NM_017782	68	0	0	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	46	12.882802	0.99703	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	.	.	.	5.23	-1.09	0.09904	.	0.851065	0.10178	N	0.706230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	6.0062	0.19547	0.2715:0.2544:0.474:0.0	.	.	.	.	X	1702;897	.	ENSP00000328426:E1702X	E	+	1	0	C10orf18	5830494	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.219000	0.17641	-0.087000	0.12528	-0.253000	0.11424	GAG			0.478	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046571.2		NM_017782		T	5790488	G	T	5790488	4	4	95	1	0	0	0	0	0	1	0	0	1598	1291	45	3	5150	3	C10orf18	10	5790488	Nonsense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	5697382	5790488	129744259	44	6727											
C10orf140	387640	mdanderson.org	37	chr10	21806056	21806056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcagcagcGgcggcggcggcggcggcggc	2	0	25	14	11	0	0	0	0	0	0	0	0	0	0	0	11	2	2	0	11	0	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:21806056G>A	ENST00000449193.2	-	4	2948	c.696C>T	c.(694-696)gcC>gcT	p.A232A	SKIDA1_ENST00000444772.3_Intron|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	232	Ala-rich.			Missing (in Ref. 2; BAD18601). {ECO:0000305}.		nucleus (GO:0005634)											cggcagcagcggcggcggcgg	0.766																																					p.A232A													.	.			0			c.C696T												1	1	1					10																	21806056		64	241	305	SO:0001819	synonymous_variant	387640	exon4			AGCAGCGGCGGCG	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.696C>T	10.37:g.21806056G>A			15	0	0		18	0.17	3	NM_207371	0		0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.766	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		A	21806056	G	A	21806056	2	1	95	1	0	0	0	0	0	0	0	1	1597	1103	39	1		1	C10orf140	10	21806056	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	16015568	21806056	113728691	45	6728											
ZNF438	220929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	31137859	31137859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccatttctgaacacggagCtgggcttaggggaagagctg	10	9	14	8	1	1	2	0	1	1	1	2	4	2	4	1	4	3	3	1	4	3	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:31137859C>T	ENST00000361310.3	-	6	1804	c.1475G>A	c.(1474-1476)aGc>aAc	p.S492N	ZNF438_ENST00000538351.2_Missense_Mutation_p.S443N|ZNF438_ENST00000444692.2_Missense_Mutation_p.S482N|ZNF438_ENST00000413025.1_Missense_Mutation_p.S492N|ZNF438_ENST00000375311.1_Missense_Mutation_p.S56N|ZNF438_ENST00000452305.1_Missense_Mutation_p.S482N|ZNF438_ENST00000436087.2_Missense_Mutation_p.S492N|ZNF438_ENST00000331737.6_Missense_Mutation_p.S482N|ZNF438_ENST00000442986.1_Missense_Mutation_p.S492N			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	492					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)				GAACACGGAGCTGGGCTTAGG	0.478																																					p.S492N													.	.			0			c.G1475A												137	137	137					10																	31137859		2203	4300	6503	SO:0001583	missense	220929	exon7			ACGGAGCTGGGCT	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.1475G>A	10.37:g.31137859C>T	ENSP00000354663:p.Ser492Asn		246	0	0		239	0.15	35	NM_182755	32	0.03	1	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243174	0.39697	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15	5.59	2.65	0.31530	.	0.883469	0.10378	N	0.681932	T	0.09686	0.0238	L	0.43152	1.355	0.09310	N	1	P;P	0.49090	0.868;0.919	B;B	0.43575	0.243;0.424	T	0.27054	-1.0085	10	0.45353	T	0.12	-4.4377	8.7154	0.34408	0.4943:0.4358:0.0:0.0699	.	492;482	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	N	482;492;492;492;492;482;482;443;211;56	ENSP00000333571:S482N;ENSP00000354663:S492N;ENSP00000406934:S492N;ENSP00000412363:S492N;ENSP00000387546:S492N;ENSP00000413060:S482N;ENSP00000410898:S482N;ENSP00000445461:S443N;ENSP00000364460:S56N	ENSP00000333571:S482N	S	-	2	0	ZNF438	31177865	0.000000	0.05858	0.274000	0.24659	0.701000	0.40568	-0.409000	0.07160	0.279000	0.22186	0.655000	0.94253	AGC			0.478	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000277006.1		NM_182755		T	31137859	C	T	31137859	3	4	95	1	0	0	0	0	1	0	0	0	17933	797	28	2	1019	2	ZNF438	10	31137859	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	9331803	31137859	104396888	46	6729											
MMRN2	79812	mdanderson.org	37	chr10	88704996	88704996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcctggtggctgtcaccagGatctgcaggctcagggattg	6	11	14	10	0	3	0	2	0	1	0	4	2	4	2	2	5	1	3	2	5	0	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:88704996G>T	ENST00000372027.5	-	4	751	c.430C>A	c.(430-432)Cct>Act	p.P144T	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	144					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						CTGTCACCAGGATCTGCAGGC	0.562																																					p.P144T													.	.			0			c.C430A												63	53	56					10																	88704996		2203	4300	6503	SO:0001583	missense	79812	exon4			CACCAGGATCTGC	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.430C>A	10.37:g.88704996G>T	ENSP00000361097:p.Pro144Thr		66	0	0		46	0.07	3	NM_024756	19	0	0	Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	6.629	0.484428	0.12641	.	.	ENSG00000173269	ENST00000372027	T	0.15372	2.43	4.68	0.692	0.18050	.	0.647889	0.15092	N	0.281009	T	0.13030	0.0316	L	0.57536	1.79	0.09310	N	1	B;P	0.35328	0.255;0.495	B;B	0.22753	0.038;0.041	T	0.13124	-1.0521	10	0.34782	T	0.22	-0.2494	8.2798	0.31894	0.0866:0.4618:0.4515:0.0	.	83;144	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	T	144	ENSP00000361097:P144T	ENSP00000361097:P144T	P	-	1	0	MMRN2	88694976	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.487000	0.22356	0.134000	0.18681	-0.886000	0.02939	CCT			0.562	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049179.2		NM_024756		T	88704996	G	T	88704996	3	4	95	1	0	0	0	0	1	0	0	0	9687	1174	41	3	2435	3	MMRN2	10	88704996	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	57567137	88704996	46829751	47	6730											
ANKRD1	27063	mdanderson.org	37	chr10	92675380	92675380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcagtctcaccgcatcatGcaacggggtatctccttcct	7	12	8	14	2	4	0	3	0	2	0	7	0	5	0	3	2	2	4	3	2	2	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:92675380G>T	ENST00000371697.3	-	8	1017	c.769C>A	c.(769-771)Cat>Aat	p.H257N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	257					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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 projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				ACCGCATCATGCAACGGGGTA	0.517																																					p.H257N													.	.			0			c.C769A												114	103	107					10																	92675380		2203	4300	6503	SO:0001583	missense	27063	exon8			CATCATGCAACGG	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"Ankyrin repeat domain containing"	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.769C>A	10.37:g.92675380G>T	ENSP00000360762:p.His257Asn		74	0	0		53	0.06	3	NM_014391	0		0	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971617	0.74246	.	.	ENSG00000148677	ENST00000371697	T	0.61742	0.08	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.81250	0.4783	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84502	0.0617	10	0.87932	D	0	.	19.5118	0.95144	0.0:0.0:1.0:0.0	.	257	Q15327	ANKR1_HUMAN	N	257	ENSP00000360762:H257N	ENSP00000360762:H257N	H	-	1	0	ANKRD1	92665360	1.000000	0.71417	0.957000	0.39632	0.358000	0.29455	9.455000	0.97625	2.590000	0.87494	0.650000	0.86243	CAT			0.517	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049357.1		NM_014391		T	92675380	G	T	92675380	3	4	95	1	0	0	0	0	1	0	0	0	637	1319	46	2	198	2	ANKRD1	10	92675380	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	3970384	92675380	42859367	48	6731											
HSPA12A	259217	bcgsc.ca;mdanderson.org	37	chr10	118458220	118458220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgactttcttgccatttgCtgccgtcaggtctgtatcca	5	17	8	11	1	3	1	1	1	2	0	4	1	4	1	3	1	3	2	3	1	1	5			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:118458220C>T	ENST00000369209.3	-	5	576	c.472G>A	c.(472-474)Gca>Aca	p.A158T		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	158						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTGCCATTTGCTGCCGTCAGG	0.493																																					p.A158T													.	HSPA12A	81		0			c.G472A												144	137	140					10																	118458220		1951	4156	6107	SO:0001583	missense	259217	exon5			CATTTGCTGCCGT	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.472G>A	10.37:g.118458220C>T	ENSP00000358211:p.Ala158Thr		80	0	0		72	0.07	5	NM_025015	8	0	0		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666982	0.96745	.	.	ENSG00000165868	ENST00000369209	T	0.03889	3.77	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	L	0.54323	1.7	0.80722	D	1	D	0.62365	0.991	P	0.62649	0.905	T	0.00164	-1.1968	10	0.39692	T	0.17	.	19.6322	0.95713	0.0:1.0:0.0:0.0	.	158	O43301	HS12A_HUMAN	T	158	ENSP00000358211:A158T	ENSP00000358211:A158T	A	-	1	0	HSPA12A	118448210	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	4.947000	0.63583	2.652000	0.90054	0.655000	0.94253	GCA			0.493	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050530.1		NM_025015		T	118458220	C	T	118458220	3	4	95	1	0	0	0	0	1	0	0	0	7419	797	28	2	1587	2	HSPA12A	10	118458220	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	25782840	118458220	17076527	49	6732											
GPR26	2849	mdanderson.org	37	chr10	125426014	125426014	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctggtgctgctctgcctgCtgcacagcgcggacatccgc	4	8	13	16	4	1	0	0	0	1	0	2	1	2	1	2	2	6	5	2	2	0	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:125426014C>T	ENST00000284674.1	+	1	144	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	31					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)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCTCTGCCTGCTGCACAGCGC	0.697																																					p.L31L													.	.			0			c.C91T												8	9	8					10																	125426014		2155	4229	6384	SO:0001819	synonymous_variant	2849	exon1			TGCCTGCTGCACA		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.91C>T	10.37:g.125426014C>T			36	0	0		37	0.08	3	NM_153442	0		0	Q2M2E2	Silent	SNP	ENST00000284674.1	37	CCDS7636.1																																																																																					0.697	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050850.1				T	125426014	C	T	125426014	2	4	95	1	0	0	0	0	0	0	0	1	6698	796	28	2		2	GPR26	10	125426014	Silent	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	6967794	125426014	10108733	50	6733											
CTBP2	1488	mdanderson.org	37	chr10	126715930	126715930	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtagctggggaccggccgGctgactcctgggtcccgata	5	7	15	14	4	0	1	0	1	0	0	2	3	2	2	5	5	1	3	5	5	2	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:126715930G>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.S133R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|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)|transcription corepressor activity (GO:0003714)	p.S133S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGACCGGCCGGCTGACTCCTG	0.652																																					p.S133R													CTBP2,caecum,carcinoma,0,1	CTBP2	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C399A												44	47	46					10																	126715930		2203	4300	6503	SO:0001627	intron_variant	1488	exon1			CGGCCGGCTGACT	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11635C>A	10.37:g.126715930G>T			53	0	0		30	0.1	3	NM_022802	1	0	0	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618331	0.46736	.	.	ENSG00000175029	ENST00000309035	D	0.93426	-3.22	4.7	4.7	0.59300	.	3.328400	0.00567	N	0.000300	D	0.92938	0.7753	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.67465	-0.5664	9	0.72032	D	0.01	.	18.2238	0.89910	0.0:0.0:1.0:0.0	.	133	P56545-2	.	R	133	ENSP00000311825:S133R	ENSP00000311825:S133R	S	-	3	2	CTBP2	126705920	0.406000	0.25344	0.984000	0.44739	0.853000	0.48598	1.467000	0.35321	2.608000	0.88229	0.655000	0.94253	AGC			0.652	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050900.3		NM_001083914		T	126715930	G	T	126715930	1	4	95	0	1	0	0	0	0	0	0	0	4000	1194	42	2		2	CTBP2	10	126715930	Intron	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	1289916	126715930	8818817	51	6734											
DHX32	55760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	127526837	127526837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagaaatgctgaatttatgGaagaggacccactctggcat	13	10	10	8	0	2	3	1	1	1	2	2	5	2	5	1	3	1	2	1	3	4	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:127526837G>A	ENST00000284690.3	-	10	2491	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Silent_p.F291F|DHX32_ENST00000284688.6_Silent_p.F586F|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	667						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)				TGAATTTATGGAAGAGGACCC	0.408																																					p.F667F													.	.			0			c.C2001T												133	129	130					10																	127526837		2203	4300	6503	SO:0001819	synonymous_variant	55760	exon10			TTTATGGAAGAGG		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.2001C>T	10.37:g.127526837G>A			71	0	0		72	0.39	28	NM_018180	79	0.49	39	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	CCDS7652.1																																																																																					0.408	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050945.2		NM_018180		A	127526837	G	A	127526837	2	1	95	1	0	0	0	0	0	0	0	1	4510	1165	41	3		3	DHX32	10	127526837	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	810907	127526837	8007910	52	6735											
MUC2	4583	mdanderson.org	37	chr11	1078504	1078504	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaggccttcgcggactgtCaggacctggtgccgctggag	5	7	16	13	4	1	0	1	0	0	0	2	4	1	3	4	5	1	1	4	5	0	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:1078504C>G	ENST00000441003.2	+	6	739	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	MUC2_ENST00000359061.5_Missense_Mutation_p.Q238E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	238	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)	CGCGGACTGTCAGGACCTGGT	0.697																																					p.Q238E													.	.			0			c.C712G												6	10	8					11																	1078504		1966	4080	6046	SO:0001583	missense	4583	exon6			GACTGTCAGGACC	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.712C>G	11.37:g.1078504C>G	ENSP00000415183:p.Gln238Glu		20	0	0		24	0.13	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	7.538	0.660017	0.14645	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.76186	-1.0;-1.0	3.58	2.65	0.31530	.	1.093860	0.07132	N	0.845810	T	0.69205	0.3085	L	0.39397	1.21	0.09310	N	0.999993	B	0.26577	0.153	B	0.38296	0.27	T	0.51004	-0.8760	10	0.02654	T	1	.	12.3267	0.55015	0.1697:0.8303:0.0:0.0	.	238	E7EUV1	.	E	238	ENSP00000415183:Q238E;ENSP00000351956:Q238E	ENSP00000351956:Q238E	Q	+	1	0	MUC2	1068504	0.000000	0.05858	0.016000	0.15963	0.003000	0.03518	-0.126000	0.10563	0.691000	0.31592	0.561000	0.74099	CAG			0.697	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		G	1078504	C	G	1078504	3	3	95	1	0	0	0	0	1	0	0	0	9991	827	29	5	734	5	MUC2	11	1078504	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10		1078504	133928012	53	6736											
TSG101	7251	broad.mit.edu	37	chr11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccagtttctggtgacccTttttcaggtcttcttctgtt	3	20	7	11	0	5	1	1	1	4	0	6	1	6	1	2	2	0	2	2	2	0	7			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	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																																					p.K265R	GBM(99;1348 1396 8611 26475 50572)												TSG101,NS,carcinoma,0,1	TSG101	43	1	0			c.A794G												262	254	257					11																	18505466		2199	4293	6492	SO:0001583	missense	7251	exon8			TGACCCTTTTTCA	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		105	0.019047619	2		120	0.03	3	NM_006292	581	0	0	Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	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		C	18505466	T	C	18505466	3	2	95	1	0	0	0	0	1	0	0	0	16640	1609	56	4	390	4	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-SO-A8JP-01A-11D-A435-10	17426962	18505466	116501050	54	6737											
FEN1	746	mdanderson.org	37	chr11	61563042	61563042	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgatgggcatgttctaccGcaccattcgcatgatggaga	9	10	11	11	2	1	3	0	2	1	1	2	4	1	3	3	2	1	4	3	2	1	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:61563042G>T	ENST00000537328.1	-	0	0				FEN1_ENST00000305885.2_Missense_Mutation_p.R70L|FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											ATGTTCTACCGCACCATTCGC	0.562																																					p.R70L													.	.			0			c.G209T												87	78	81					11																	61563042		2202	4299	6501	SO:0001631	upstream_gene_variant	2237	exon2			TCTACCGCACCAT		CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 10"	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61563042G>T	Exception_encountered		55	0	0		41	0.07	3	NM_004111	221	0	0	A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	ENST00000537328.1	37	CCDS8009.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841810	0.71488	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.70164	-0.46;-0.46	5.44	5.44	0.79542	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92916	0.6351	10	0.87932	D	0	-6.9095	19.6661	0.95893	0.0:0.0:1.0:0.0	.	70	P39748	FEN1_HUMAN	L	70	ENSP00000305480:R70L;ENSP00000445692:R70L	ENSP00000305480:R70L	R	+	2	0	FEN1	61319618	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.506000	0.81665	2.724000	0.93272	0.561000	0.74099	CGC			0.562	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398577.1		NM_014206		T	61563042	G	T	61563042	1	4	95	0	1	0	0	0	0	0	0	0	5825	1087	38	1		1	FEN1	11	61563042	5'Flank	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	43057576	61563042	73443474	55	6738											
TBX10	347853	ucsc.edu;bcgsc.ca	37	chr11	67399115	67399115	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccaggcacaccacagtGggggacaggagccccagccc	9	1	14	17	0	0	0	0	0	0	0	0	2	0	2	6	5	2	1	6	5	0	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:67399115G>T	ENST00000335385.3	-	8	1206	c.1119C>A	c.(1117-1119)ccC>ccA	p.P373P	NUDT8_ENST00000376693.2_5'Flank|NUDT8_ENST00000301490.4_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	373					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						ACACCACAGTGGGGGACAGGA	0.662																																					p.P373P													.	TBX10	25		0			c.C1119A												14	14	14					11																	67399115		2196	4282	6478	SO:0001819	synonymous_variant	347853	exon8			CACAGTGGGGGAC	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"T-boxes"	11593	protein-coding gene	gene with protein product		604648	"T-box 7"	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.1119C>A	11.37:g.67399115G>T			22	0	0		25	0.16	4	NM_005995	0		0	Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	37	CCDS31621.1																																																																																					0.662	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394034.1		NM_005995		T	67399115	G	T	67399115	2	4	95	1	0	0	0	0	0	0	0	1	15674	1335	47	3		3	TBX10	11	67399115	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	5836073	67399115	67607401	56	6739											
INPPL1	3636	mdanderson.org	37	chr11	71942580	71942580	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaatatcaaggtggcagtGctggtcaagccagagcacga	12	7	14	8	1	2	1	2	0	0	1	2	3	2	2	1	4	3	3	1	4	4	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:71942580G>T	ENST00000298229.2	+	13	1740	c.1536G>T	c.(1534-1536)gtG>gtT	p.V512V	INPPL1_ENST00000541756.1_Silent_p.V270V|INPPL1_ENST00000538751.1_Silent_p.V270V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	512					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						AGGTGGCAGTGCTGGTCAAGC	0.577																																					p.V512V													.	.			0			c.G1536T												122	92	102					11																	71942580		2200	4293	6493	SO:0001819	synonymous_variant	3636	exon13			GGCAGTGCTGGTC	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.1536G>T	11.37:g.71942580G>T			55	0	0		42	0.07	3	NM_001567	160	0	0	B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	CCDS8213.1																																																																																					0.577	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396789.1		NM_001567		T	71942580	G	T	71942580	2	4	95	1	0	0	0	0	0	0	0	1	7776	1306	46	2		2	INPPL1	11	71942580	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	4543465	71942580	63063936	57	6740											
SIDT2	51092	bcgsc.ca	37	chr11	117064645	117064647	+	In_Frame_Del	DEL	TCT	TCT	-																															cgtggtctggggcttcgcgcTcttcttcttcttccagggac																								rs369807521		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	TCT	TCT					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:117064645_117064647delTCT	ENST00000324225.4	+	24	2819_2821	c.2288_2290delTCT	c.(2287-2292)ctcttc>ctc	p.F767del	SIDT2_ENST00000431081.2_In_Frame_Del_p.F764del|SIDT2_ENST00000532062.1_In_Frame_Del_p.F59del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	767	Poly-Phe.				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)		GGCTTCGCGCTCTTCTTCTTCTT	0.601																																					p.763_764del													.	SIDT2	82		0			c.2288_2290del																																									SO:0001651	inframe_deletion	51092	exon24			TCGCGCTCTTCTT	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.2288_2290delTCT	11.37:g.117064654_117064656delTCT	ENSP00000314023:p.Phe767del		100	0	0		33	0.15	5	NM_001040455	82	0	0	Q8NBY7|Q9Y357	In_Frame_Del	DEL	ENST00000324225.4	37	CCDS31682.1																																																																																					0.601	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392836.1		NM_015996		-	117064647	TCT	-	117064645	7	5	95	1	0	1	0	1	0	0	0	0	14326	1551	54	0	2382	0	SIDT2	11	117064645	In_Frame_Del	DEL	TCT	TCGA-SO-A8JP-01A-11D-A435-10	45122065	117064645	17941871	58	6741											
NCAPD3	23310	mdanderson.org	37	chr11	134063930	134063930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataaggagttcagtaagaGactggagggcctgcttccgg	10	8	14	9	1	1	1	1	0	0	1	2	4	2	3	3	4	1	3	3	4	2	4			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:134063930G>T	ENST00000534548.2	-	15	1869	c.1805C>A	c.(1804-1806)tCt>tAt	p.S602Y		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	602					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)		TTCAGTAAGAGACTGGAGGGC	0.448																																					p.S602Y													.	.			0			c.C1805A												64	63	63					11																	134063930		2201	4297	6498	SO:0001583	missense	23310	exon15			GTAAGAGACTGGA	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.1805C>A	11.37:g.134063930G>T	ENSP00000433681:p.Ser602Tyr		84	0	0		47	0.06	3	NM_015261	32	0	0	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765541	0.69878	.	.	ENSG00000151503	ENST00000534548	T	0.66460	-0.21	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.049005	0.85682	D	0.000000	D	0.82323	0.5012	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.81595	-0.0861	10	0.48119	T	0.1	-22.4763	19.8686	0.96842	0.0:0.0:1.0:0.0	.	602	P42695	CNDD3_HUMAN	Y	602	ENSP00000433681:S602Y	ENSP00000431612:S602Y	S	-	2	0	NCAPD3	133569140	1.000000	0.71417	0.935000	0.37517	0.855000	0.48748	6.429000	0.73387	2.768000	0.95171	0.655000	0.94253	TCT			0.448	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393575.2		NM_015261		T	134063930	G	T	134063930	3	4	95	1	0	0	0	0	1	0	0	0	10223	942	33	3	2775	3	NCAPD3	11	134063930	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	16999285	134063930	942586	59	6742											
PLCZ1	89869	mdanderson.org	37	chr12	18837085	18837085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgttcatgcatagaagtgGcaaagtatattgcccaagaa	14	12	9	6	0	1	2	1	0	0	2	1	2	1	2	1	1	2	4	1	1	7	6			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:18837085G>T	ENST00000538330.1	-	10	1447	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T	PLCZ1_ENST00000447925.2_Missense_Mutation_p.P572T|PLCZ1_ENST00000435379.1_Missense_Mutation_p.P379T|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000534932.1_Missense_Mutation_p.P55T|PLCZ1_ENST00000539875.1_Missense_Mutation_p.P381T|PLCZ1_ENST00000266505.7_Missense_Mutation_p.P574T					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CATAGAAGTGGCAAAGTATAT	0.333																																					p.P574T													.	.			0			c.C1720A												89	85	87					12																	18837085		2203	4298	6501	SO:0001583	missense	89869	exon14			GAAGTGGCAAAGT	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1066C>A	12.37:g.18837085G>T	ENSP00000445880:p.Pro356Thr		79	0	0		128	0.04	5	NM_033123	0		0		Missense_Mutation	SNP	ENST00000538330.1	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.176273	0.78564	.	.	ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.15	5.15	0.70609	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.88640	2.97	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56655	-0.7943	10	0.87932	D	0	.	15.4936	0.75632	0.0:0.0:1.0:0.0	.	574;356	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	T	55;356;574;572;379;381	ENSP00000438826:P55T;ENSP00000445880:P356T;ENSP00000266505:P574T;ENSP00000402358:P572T;ENSP00000400504:P379T;ENSP00000445026:P381T	ENSP00000266505:P574T	P	-	1	0	PLCZ1	18728352	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.611000	0.82962	2.674000	0.91012	0.655000	0.94253	CCA			0.333	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000401666.3		NM_033123		T	18837085	G	T	18837085	3	4	95	1	0	0	0	0	1	0	0	0	12061	1203	42	2	114	2	PLCZ1	12	18837085	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		18837085	115014810	60	6743											
CAPZA3	93661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	18891950	18891950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattacaggagttatccaatGaagccctgagaaaaattcta	17	10	7	7	0	1	2	0	2	1	1	2	4	2	3	2	1	2	1	2	1	8	4			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:18891950G>A	ENST00000317658.3	+	1	906	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	250					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)				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)				GTTATCCAATGAAGCCCTGAG	0.433																																					p.E250K													.	.			0			c.G748A												49	52	51					12																	18891950		2203	4299	6502	SO:0001583	missense	93661	exon1			TCCAATGAAGCCC	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.748G>A	12.37:g.18891950G>A	ENSP00000326238:p.Glu250Lys		41	0	0		58	0.31	18	NM_033328	0		0	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201227	0.22121	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	2.65	0.31530	.	0.620826	0.14115	N	0.340444	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B	0.31413	0.322	B	0.29176	0.099	T	0.15009	-1.0452	9	0.59425	D	0.04	-11.4578	8.1429	0.31093	0.0:0.32:0.5157:0.1643	.	250	Q96KX2	CAZA3_HUMAN	K	250	.	ENSP00000326238:E250K	E	+	1	0	CAPZA3	18783217	0.827000	0.29292	0.307000	0.25127	0.631000	0.37964	2.406000	0.44557	1.141000	0.42275	0.462000	0.41574	GAA			0.433	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401902.1		NM_033328		A	18891950	G	A	18891950	3	1	95	1	0	0	0	0	1	0	0	0	2644	1291	45	3	750	3	CAPZA3	12	18891950	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	54865	18891950	114959945	61	6744											
KIF21A	55605	broad.mit.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	3	17	1	20	0	5	1	2	1	3	0	13	1	12	1	7	0	0	0	7	0	0	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					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)	p.E602D(1)|p.E602E(1)		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)				cctcctcctcctcttcttcat	0.398																																					p.E615E													KIF21A,NS,carcinoma,0,2	KIF21A	238	2	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)	c.G1845A												85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605	exon14			CTCCTCCTCTTCT	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.1845G>A	12.37:g.39735383C>T			128	0	0		144	0.02	3	NM_001173464	27	0	0	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1																																																																																					0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403581.1		NM_017641		T	39735383	C	T	39735383	2	4	95	1	0	0	0	0	0	0	0	1	8303	680	24	3		3	KIF21A	12	39735383	Silent	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	20843433	39735383	94116512	62	6745											
ESYT1	23344	broad.mit.edu	37	chr12	56532024	56532024	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcgcctggagcgtctcAccccccgtcccactgctgct	4	9	9	19	3	1	0	1	0	1	0	3	1	2	1	5	1	4	2	5	1	0	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:56532024A>C	ENST00000394048.5	+	21	2569	c.2305A>C	c.(2305-2307)Acc>Ccc	p.T769P	ESYT1_ENST00000267113.4_Missense_Mutation_p.T779P|ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.T779P	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	769					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGCGTCTCACCCCCCGTCC	0.602																																					p.T779P													.	ESYT1	84		0			c.A2335C												116	118	117					12																	56532024		2203	4300	6503	SO:0001583	missense	23344	exon21			CGTCTCACCCCCC	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2305A>C	12.37:g.56532024A>C	ENSP00000377612:p.Thr769Pro		120	0.0083333333	1		132	0.07	9	NM_001184796	144	0.04	6	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.273565	0.40194	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.58210	0.37;0.35;0.35	5.47	5.47	0.80525	.	0.393724	0.28109	N	0.016570	T	0.35393	0.0930	N	0.13098	0.295	0.33638	D	0.606876	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42515	-0.9447	10	0.23302	T	0.38	-13.1828	13.8133	0.63276	1.0:0.0:0.0:0.0	.	779;769	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	P	769;723;779;779	ENSP00000377612:T769P;ENSP00000267113:T779P;ENSP00000445952:T779P	ENSP00000267113:T779P	T	+	1	0	ESYT1	54818291	0.699000	0.27786	0.982000	0.44146	0.931000	0.56810	2.474000	0.45154	2.211000	0.71520	0.459000	0.35465	ACC			0.602	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000407906.1		NM_015292		C	56532024	A	C	56532024	3	2	95	1	0	0	0	0	1	0	0	0	5271	159	6	4	2417	4	ESYT1	12	56532024	Missense_Mutation	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10	16796641	56532024	77319871	63	6746											
KIAA1033	23325	mdanderson.org	37	chr12	105505042	105505042	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcctatagcattaaaGgtttgatttgattttttaaa	12	19	6	4	0	0	3	0	3	0	0	1	3	1	3	1	1	1	2	1	1	6	9			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:105505042G>T	ENST00000332180.5	+	2	288	c.201G>T	c.(199-201)aaG>aaT	p.K67N		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TAGCATTAAAGGTTTGATTTG	0.284																																					p.K67N													.	.			0			c.G201T												48	44	45					12																	105505042		1787	4061	5848	SO:0001630	splice_region_variant	23325	exon2			ATTAAAGGTTTGA	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.201+1G>T	12.37:g.105505042G>T			43	0	0		46	0.07	3	NM_015275	28	0	0		Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716302	0.30413	.	.	ENSG00000136051	ENST00000332180	T	0.29655	1.56	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	L	0.40543	1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.03969	-1.0988	10	0.21014	T	0.42	.	15.2962	0.73910	0.0:0.0:0.8594:0.1406	.	67;67	B7ZKT9;Q2M389	.;WASH7_HUMAN	N	67	ENSP00000328062:K67N	ENSP00000328062:K67N	K	+	3	2	KIAA1033	104029172	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.436000	0.66538	2.646000	0.89796	0.462000	0.41574	AAG			0.284	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406138.4		NM_015275	Missense_Mutation	T	105505042	G	T	105505042	5	4	95	1	0	0	0	0	0	0	1	0	8221	1014	35	3	207	3	KIAA1033	12	105505042	Splice_Site	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	48973018	105505042	28346853	64	6747											
TMEM132D	121256	broad.mit.edu	37	chr12	130184606	130184606	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgcgtcttccctgacGcagtcccctctctcaccccc	3	10	5	23	3	3	1	1	1	2	0	8	1	6	1	6	0	0	1	6	0	0	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:130184606G>A	ENST00000422113.2	-	2	1043	c.717C>T	c.(715-717)tgC>tgT	p.C239C	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	239					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)		CTTCCCTGACGCAGTCCCCTC	0.647																																					p.C239C													TMEM132D,NS,carcinoma,0,1	TMEM132D	299	1	0			c.C717T												84	76	79					12																	130184606		2203	4300	6503	SO:0001819	synonymous_variant	121256	exon2			CCTGACGCAGTCC	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.717C>T	12.37:g.130184606G>A			110	0	0		86	0.05	4	NM_133448	10	0.3	3	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																					0.647	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399592.1		NM_133448		A	130184606	G	A	130184606	2	1	95	1	0	0	0	0	0	0	0	1	16070	1079	38	1		1	TMEM132D	12	130184606	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	24679564	130184606	3667289	65	6748											
TPTE2	93492	bcgsc.ca	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	17	10	5	9	1	1	0	0	0	1	0	2	1	1	1	2	1	3	1	2	1	8	6	rs201542496		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					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)		CGTTCTAACATACTTTAGCCA	0.313																																					p.M41V													.	TPTE2	225		0			c.A121G												47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492	exon5			CTAACATACTTTA	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.120-1A>G	13.37:g.20056686T>C			575	0.0104347826	6		459	0.03	15	NM_199254	3	0	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG			0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_199254	Missense_Mutation	C	20056686	T	C	20056686	5	2	95	1	0	0	0	0	0	0	1	0	16455	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-SO-A8JP-01A-11D-A435-10		20056686	95113192	66	6749											
CBLN3	643866	broad.mit.edu	37	chr14	24898130	24898130	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacagaccaccaggcacTccccctccagcaggacgggc	9	3	10	19	1	1	1	1	0	0	1	3	2	3	2	5	3	1	3	5	3	0	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr14:24898130T>C	ENST00000267406.6	-	1	601	c.131A>G	c.(130-132)gAg>gGg	p.E44G	CBLN3_ENST00000555436.1_Intron|KHNYN_ENST00000553935.1_5'Flank|KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000251343.5_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	44						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)		CACCAGGCACTCCCCCTCCAG	0.726																																					p.E44G													.	CBLN3	21		0			c.A131G												10	12	11					14																	24898130		2158	4214	6372	SO:0001583	missense	643866	exon1			AGGCACTCCCCCT	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.131A>G	14.37:g.24898130T>C	ENSP00000267406:p.Glu44Gly		134	0	0		140	0.04	5	NM_001039771	3	0	0		Missense_Mutation	SNP	ENST00000267406.6	37	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.670853	0.67814	.	.	ENSG00000139899	ENST00000267406	D	0.82893	-1.66	5.17	5.17	0.71159	.	0.000000	0.51477	D	0.000098	T	0.73179	0.3554	N	0.22421	0.69	0.80722	D	1	B	0.29571	0.249	B	0.28991	0.097	T	0.73238	-0.4046	10	0.51188	T	0.08	-21.5647	13.0115	0.58733	0.0:0.0:0.0:1.0	.	44	Q6UW01	CBLN3_HUMAN	G	44	ENSP00000267406:E44G	ENSP00000267406:E44G	E	-	2	0	CBLN3	23967970	0.999000	0.42202	0.978000	0.43139	0.837000	0.47467	5.285000	0.65633	2.165000	0.68154	0.460000	0.39030	GAG			0.726	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412943.1		XM_115232		C	24898130	T	C	24898130	3	2	95	1	0	0	0	0	1	0	0	0	2708	1551	54	4	498	4	CBLN3	14	24898130	Missense_Mutation	SNP	T	TCGA-SO-A8JP-01A-11D-A435-10		24898130	82451410	67	6750											
TXNDC16	57544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	52978069	52978069	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtccaagactagtttacaAtgaaaaaagtagagatgtgc	18	9	9	5	0	0	3	0	1	0	2	1	4	1	3	1	0	2	2	1	0	9	4			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr14:52978069A>T	ENST00000281741.4	-	9	1016	c.645T>A	c.(643-645)caT>caA	p.H215Q	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	215					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTAGTTTACAATGAAAAAAGT	0.338																																					p.H215Q													.	.			0			c.T645A												129	119	122					14																	52978069		2203	4300	6503	SO:0001583	missense	57544	exon9			TTTACAATGAAAA	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.645T>A	14.37:g.52978069A>T	ENSP00000281741:p.His215Gln		275	0	0		249	0.32	80	NM_020784	5	0.4	2	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889936	0.72524	.	.	ENSG00000087301	ENST00000281741	T	0.22336	1.96	5.13	1.11	0.20524	.	0.045515	0.85682	D	0.000000	T	0.33469	0.0864	M	0.66939	2.045	0.43214	D	0.995087	D;P	0.63880	0.993;0.838	P;B	0.60949	0.881;0.347	T	0.03608	-1.1020	10	0.41790	T	0.15	-44.7773	7.2696	0.26250	0.6628:0.0:0.3372:0.0	.	210;215	B7ZME4;Q9P2K2	.;TXD16_HUMAN	Q	215	ENSP00000281741:H215Q	ENSP00000281741:H215Q	H	-	3	2	TXNDC16	52047819	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	0.374000	0.20501	0.373000	0.24621	0.377000	0.23210	CAT			0.338	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411681.1		XM_051699		T	52978069	A	T	52978069	3	4	95	1	0	0	0	0	1	0	0	0	16819	98	4	5	1884	5	TXNDC16	14	52978069	Missense_Mutation	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10	28079939	52978069	54371471	68	6751											
TTC7B	145567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	91252656	91252656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcgactccccgaggagAagctctgccatgtcatctac	9	9	9	14	2	3	1	1	0	2	1	5	4	4	1	3	1	4	2	3	1	2	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr14:91252656A>G	ENST00000328459.6	-	2	259	c.138T>C	c.(136-138)ctT>ctC	p.L46L	TTC7B_ENST00000357056.2_Silent_p.L46L	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	46										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCCCGAGGAGAAGCTCTGCCA	0.597																																					p.L46L													.	.			0			c.T138C												43	49	47					14																	91252656		2203	4300	6503	SO:0001819	synonymous_variant	145567	exon2			GAGGAGAAGCTCT	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.138T>C	14.37:g.91252656A>G			50	0	0		66	0.18	12	NM_001010854	39	0.15	6	Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	CCDS32140.1																																																																																					0.597	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411364.2				G	91252656	A	G	91252656	2	3	95	1	0	0	0	0	0	0	0	1	16737	233	9	4		4	TTC7B	14	91252656	Silent	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10	38274587	91252656	16096884	69	6752											
JAG2	3714	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr14	105609508	105609508	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacaggcaccagcagacCtggggaccggggagaagagc	12	1	16	12	1	0	3	0	0	0	3	0	5	0	4	3	5	3	3	3	5	1	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr14:105609508C>T	ENST00000331782.3	-	26	3645		c.e26-1		JAG2_ENST00000347004.2_Splice_Site	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2						auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACCAGCAGACCTGGGGACCGG	0.701																																					.													.	.			0			c.3242-1G>A												20	29	26					14																	105609508		2184	4275	6459	SO:0001630	splice_region_variant	3714	exon27			GCAGACCTGGGGA	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3242-1G>A	14.37:g.105609508C>T			14	0	0		23	0.48	11	NM_002226	42	0.79	33	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Splice_Site	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249445	0.59103	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4312	0.75102	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAG2	104680553	1.000000	0.71417	0.827000	0.32855	0.777000	0.43975	4.414000	0.59802	2.111000	0.64477	0.491000	0.48974	.			0.701	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276506.2			Intron	T	105609508	C	T	105609508	5	4	95	1	0	0	0	0	0	0	1	0	7950	695	24	3	479	3	JAG2	14	105609508	Splice_Site	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	14356852	105609508	1740032	70	6753											
MTMR15	22909	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	31197594	31197594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggaagccgaaagccaaaAggctacccgggaatgtgaga	16	4	13	8	2	0	1	0	1	0	1	0	5	0	3	3	3	3	1	3	3	7	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr15:31197594A>G	ENST00000362065.4	+	2	1019	c.728A>G	c.(727-729)aAg>aGg	p.K243R	FAN1_ENST00000565466.1_Missense_Mutation_p.K243R|FAN1_ENST00000561594.1_Missense_Mutation_p.K243R|FAN1_ENST00000561607.1_Missense_Mutation_p.K243R	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	243					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						GAAAGCCAAAAGGCTACCCGG	0.393								Direct reversal of damage																													p.K243R													.	FAN1	77		0			c.A728G												55	53	54					15																	31197594		2202	4300	6502	SO:0001583	missense	22909	exon2			GCCAAAAGGCTAC		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.728A>G	15.37:g.31197594A>G	ENSP00000354497:p.Lys243Arg		135	0	0		131	0.04	5	NM_001146095	73	0	0	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885448	0.33255	.	.	ENSG00000198690	ENST00000362065	T	0.48836	0.8	5.23	-0.702	0.11265	.	1.257330	0.05000	N	0.468890	T	0.40372	0.1114	M	0.62723	1.935	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.08055	0.001;0.003	T	0.15378	-1.0439	10	0.19590	T	0.45	-1.2624	3.8158	0.08815	0.4754:0.3327:0.0764:0.1154	.	243;243	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	R	243	ENSP00000354497:K243R	ENSP00000354497:K243R	K	+	2	0	FAN1	28984886	0.000000	0.05858	0.000000	0.03702	0.636000	0.38137	-0.068000	0.11561	0.013000	0.14918	0.482000	0.46254	AAG			0.393	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430740.1		NM_014967		G	31197594	A	G	31197594	3	3	95	1	0	0	0	0	1	0	0	0	9959	72	3	4	730	4	MTMR15	15	31197594	Missense_Mutation	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10		31197594	71333798	71	6754											
MAN2C1	4123	broad.mit.edu;mdanderson.org	37	chr15	75650586	75650586	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtattgtagtgggtaggtcGctgcaggtgcccaaactgga	8	10	16	7	1	0	0	0	0	0	0	1	1	0	1	1	5	3	5	1	5	4	4			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr15:75650586G>T	ENST00000267978.5	-	21	2549	c.2503C>A	c.(2503-2505)Cga>Aga	p.R835R	MAN2C1_ENST00000565683.1_Silent_p.R852R|MAN2C1_ENST00000563622.1_Silent_p.R736R|MAN2C1_ENST00000569482.1_Silent_p.R835R|RP11-817O13.6_ENST00000563660.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	835					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						TGGGTAGGTCGCTGCAGGTGC	0.602																																					p.R852R													.	MAN2C1	76		0			c.C2554A												114	93	100					15																	75650586		2197	4294	6491	SO:0001819	synonymous_variant	4123	exon21			TAGGTCGCTGCAG	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.2503C>A	15.37:g.75650586G>T			104	0	0		116	0.04	5	NM_001256494	57	0	0	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	CCDS32298.1																																																																																					0.602	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419965.1				T	75650586	G	T	75650586	2	4	95	1	0	0	0	0	0	0	0	1	9234	1095	38	1		1	MAN2C1	15	75650586	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	44452992	75650586	26880806	72	6755											
MESDC1	59274	mdanderson.org	37	chr15	81295326	81295326	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcgaggtgaaggtggcGcccagtgagctggcgcgcag	6	5	20	10	5	0	2	0	2	0	0	0	3	0	2	1	4	2	2	1	4	1	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr15:81295326G>T	ENST00000267984.2	+	1	2032	c.714G>T	c.(712-714)gcG>gcT	p.A238A		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	238										endometrium(1)|lung(2)	3						TGAAGGTGGCGCCCAGTGAGC	0.701																																					p.A238A													.	.			0			c.G714T												10	11	11					15																	81295326		2173	4249	6422	SO:0001819	synonymous_variant	59274	exon1			GGTGGCGCCCAGT	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.714G>T	15.37:g.81295326G>T			11	0	0		11	0.18	2	NM_022566	52	0	0		Silent	SNP	ENST00000267984.2	37	CCDS10316.1																																																																																					0.701	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000291390.1		NM_022566		T	81295326	G	T	81295326	2	4	95	1	0	0	0	0	0	0	0	1	9496	1074	38	1		1	MESDC1	15	81295326	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	5644740	81295326	21236066	73	6756											
MEX3B	84206	mdanderson.org	37	chr15	82338001	82338001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccgccgccgccgcCgccgctgccgttgcgctcca	1	6	13	21	8	0	0	0	0	0	0	1	0	1	0	8	0	4	5	8	0	0	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr15:82338001C>T	ENST00000329713.4	-	1	481	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	MEX3B_ENST00000558133.1_Missense_Mutation_p.G16S|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	16					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ccgccgccgccgccgctgccg	0.746																																					p.G16S													.	.			0			c.G46A												3	4	4					15																	82338001		1597	3334	4931	SO:0001583	missense	84206	exon1			CGCCGCCGCCGCT	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.46G>A	15.37:g.82338001C>T	ENSP00000329918:p.Gly16Ser		25	0	0		21	0.14	3	NM_032246	15	0	0	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617377	0.66672	.	.	ENSG00000183496	ENST00000329713	T	0.32023	1.47	3.33	3.33	0.38152	.	0.100665	0.38111	N	0.001819	T	0.38558	0.1045	L	0.36672	1.1	0.43103	D	0.994792	D	0.89917	1.0	D	0.65684	0.937	T	0.10683	-1.0619	10	0.38643	T	0.18	-13.8881	9.4123	0.38500	0.2127:0.7873:0.0:0.0	.	16	Q6ZN04	MEX3B_HUMAN	S	16	ENSP00000329918:G16S	ENSP00000329918:G16S	G	-	1	0	MEX3B	80125056	1.000000	0.71417	0.999000	0.59377	0.727000	0.41649	0.878000	0.28126	1.692000	0.51112	0.305000	0.20034	GGC			0.746	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000304000.1		XM_290645		T	82338001	C	T	82338001	3	4	95	1	0	0	0	0	1	0	0	0	9526	652	23	1	1671	1	MEX3B	15	82338001	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	1042675	82338001	20193391	74	6757											
ATF7IP2	80063	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	10534303	10534303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccaaacatgttatccaGtaatggagcctctaaggttt	14	11	8	8	0	1	0	0	0	1	0	2	2	2	1	3	2	3	3	3	2	5	4			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:10534303G>A	ENST00000396560.2	+	6	1405	c.1178G>A	c.(1177-1179)aGt>aAt	p.S393N	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.S393N|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.S393N|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.S393N	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						ATGTTATCCAGTAATGGAGCC	0.299																																					p.S393N													.	.			0			c.G1178A												43	47	46					16																	10534303		2194	4298	6492	SO:0001583	missense	80063	exon6			TATCCAGTAATGG	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.1178G>A	16.37:g.10534303G>A	ENSP00000379808:p.Ser393Asn		348	0	0		344	0.07	24	NM_024997	5	0.2	1	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299812	0.05532	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.62	-0.403	0.12400	.	0.910700	0.09397	N	0.807716	T	0.25680	0.0625	N	0.25647	0.755	0.09310	N	1	B;B	0.18013	0.025;0.01	B;B	0.19391	0.025;0.01	T	0.25082	-1.0142	10	0.40728	T	0.16	-0.9368	3.5441	0.07821	0.3824:0.1935:0.4241:0.0	.	393;393	Q5U623-2;Q5U623	.;MCAF2_HUMAN	N	393	ENSP00000379807:S393N;ENSP00000379808:S393N;ENSP00000348799:S393N;ENSP00000322811:S393N	ENSP00000322811:S393N	S	+	2	0	ATF7IP2	10441804	0.870000	0.30015	0.059000	0.19551	0.048000	0.14542	0.169000	0.16641	0.124000	0.18369	0.591000	0.81541	AGT			0.299	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251961.1		NM_024997		A	10534303	G	A	10534303	3	1	95	1	0	0	0	0	1	0	0	0	1088	1029	36	3	1192	3	ATF7IP2	16	10534303	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		10534303	79820450	75	6758											
NOMO1	23420	bcgsc.ca	37	chr16	14973920	14973920	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgaaggagttccggtttGagccatcctcacagatgatc	10	11	11	9	1	1	5	1	4	0	1	4	6	3	6	3	2	1	2	3	2	1	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:14973920G>C	ENST00000287667.7	+	24	2977	c.2806G>C	c.(2806-2808)Gag>Cag	p.E936Q		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	936						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						GTTCCGGTTTGAGCCATCCTC	0.532																																					p.E936Q													.	NOMO1	60		0			c.G2806C												81	81	81					16																	14973920		1586	3257	4843	SO:0001583	missense	23420	exon24			CGGTTTGAGCCAT	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.2806G>C	16.37:g.14973920G>C	ENSP00000287667:p.Glu936Gln		1119	0.0044682752	5		1181	0.25	300	NM_014287	103	0.19	20	P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.953592	0.73902	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04119	3.7	3.04	3.04	0.35103	Carbohydrate-binding-like fold (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.01800	-1.1271	10	0.38643	T	0.18	-30.3966	11.9498	0.52948	0.0:0.0:1.0:0.0	.	936	Q15155	NOMO1_HUMAN	Q	936;936;769	ENSP00000287667:E936Q	ENSP00000287667:E936Q	E	+	1	0	NOMO1	14881421	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.134000	0.94467	1.701000	0.51217	0.398000	0.26397	GAG			0.532	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207065.1				C	14973920	G	C	14973920	3	2	95	1	0	0	0	0	1	0	0	0	10548	1291	45	5	2900	5	NOMO1	16	14973920	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	4439617	14973920	75380833	76	6759											
SH2B1	25970	broad.mit.edu	37	chr16	28877475	28877475	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctcccccgctgcccccAcccccgccccctagttggcg	2	7	8	24	4	1	0	0	0	1	0	3	0	1	0	8	1	1	2	8	1	1	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:28877475A>C	ENST00000322610.8	+	4	499	c.60A>C	c.(58-60)ccA>ccC	p.P20P	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Silent_p.P20P|SH2B1_ENST00000538342.1_Intron|RP11-22P6.2_ENST00000567731.1_RNA|SH2B1_ENST00000359285.5_Silent_p.P20P|SH2B1_ENST00000395532.4_Silent_p.P20P|SH2B1_ENST00000563674.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	20	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						cgctgcccccacccccgcccc	0.716																																					p.P20P													.	SH2B1	160		0			c.A60C												2	3	3					16																	28877475		1450	3071	4521	SO:0001819	synonymous_variant	25970	exon2			GCCCCCACCCCCG	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.60A>C	16.37:g.28877475A>C			51	0.0588235294	3		55	0.27	15	NM_001145796	12	0	0	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	CCDS53996.1																																																																																					0.716	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000432666.1		NM_015503		C	28877475	A	C	28877475	2	2	95	1	0	0	0	0	0	0	0	1	14250	146	6	4		4	SH2B1	16	28877475	Silent	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10	13903555	28877475	61477278	77	6760											
CORO1A	11151	mdanderson.org	37	chr16	30198195	30198195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagcccgtcgtcacccTggagggccacaccaagcgtg	7	4	15	15	4	1	0	1	0	0	0	2	2	1	2	4	3	2	0	4	3	1	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:30198195T>C	ENST00000219150.5	+	4	685	c.380T>C	c.(379-381)cTg>cCg	p.L127P	CORO1A_ENST00000565497.1_Missense_Mutation_p.L127P|RP11-455F5.5_ENST00000566144.1_RNA|RP11-455F5.5_ENST00000567153.1_RNA|CORO1A_ENST00000570045.1_Missense_Mutation_p.L127P|RP11-455F5.5_ENST00000568506.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	127					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GTCGTCACCCTGGAGGGCCAC	0.662																																					p.L127P													.	.			0			c.T380C												34	37	36					16																	30198195		2197	4299	6496	SO:0001583	missense	11151	exon5			TCACCCTGGAGGG	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.380T>C	16.37:g.30198195T>C	ENSP00000219150:p.Leu127Pro		39	0.0256410256	1		42	0.07	3	NM_001193333	166	0	0	B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.563723	0.86335	.	.	ENSG00000102879	ENST00000219150	T	0.68479	-0.33	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.078160	0.53938	D	0.000060	D	0.88097	0.6345	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.91635	0.999;0.95;0.998	D	0.92116	0.5700	10	0.87932	D	0	-11.9051	14.7245	0.69332	0.0:0.0:0.0:1.0	.	127;161;127	B4DJS1;Q59G88;P31146	.;.;COR1A_HUMAN	P	127	ENSP00000219150:L127P	ENSP00000219150:L127P	L	+	2	0	CORO1A	30105696	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.945000	0.87732	2.137000	0.66172	0.533000	0.62120	CTG			0.662	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255195.2		NM_007074		C	30198195	T	C	30198195	3	2	95	1	0	0	0	0	1	0	0	0	3755	1580	55	4	390	4	CORO1A	16	30198195	Missense_Mutation	SNP	T	TCGA-SO-A8JP-01A-11D-A435-10	1320720	30198195	60156558	78	6761											
TAF1C	9013	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	84212696	84212698	+	In_Frame_Del	DEL	TGG	TGG	-																															gtccctctggggtggtagctTggccatgtagtcacggagca																										TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	TGG	TGG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:84212696_84212698delTGG	ENST00000567759.1	-	14	2641_2643	c.2459_2461delCCA	c.(2458-2463)gccaag>gag	p.820_821AK>E	TAF1C_ENST00000541676.1_In_Frame_Del_p.727_728AK>E|TAF1C_ENST00000341690.6_In_Frame_Del_p.726_727AK>E|TAF1C_ENST00000566732.1_In_Frame_Del_p.794_795AK>E|TAF1C_ENST00000378541.4_In_Frame_Del_p.820_821AK>E|TAF1C_ENST00000570117.1_In_Frame_Del_p.488_489AK>E	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	820					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGTGGTAGCTTGGCCATGTAGTC	0.695																																					p.820_821del													.	TAF1C	60		0			c.2460_2462del																																									SO:0001651	inframe_deletion	9013	exon14			GTAGCTTGGCCAT	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2459_2461delCCA	16.37:g.84212696_84212698delTGG	ENSP00000455265:p.Ala820_Lys821delinsGlu		49	0	0		38	0.29	11	NM_005679	251	0.37	93	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	In_Frame_Del	DEL	ENST00000567759.1	37	CCDS32496.1																																																																																					0.695	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000433045.2		NM_139353		-	84212698	TGG	-	84212696	7	5	95	1	0	1	0	1	0	0	0	0	15544	1821	63	0	152	0	TAF1C	16	84212696	In_Frame_Del	DEL	TGG	TCGA-SO-A8JP-01A-11D-A435-10	54014501	84212696	6142057	79	6762											
CPNE7	27132	mdanderson.org	37	chr16	89655121	89655121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctccaatggagacccgcgGaacagctgctccctgcacta	9	6	10	16	2	0	1	0	0	0	1	2	3	2	2	4	2	4	3	4	2	3	1	rs540204930		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:89655121G>T	ENST00000268720.5	+	12	1321	c.1191G>T	c.(1189-1191)cgG>cgT	p.R397R	CPNE7_ENST00000319518.8_Silent_p.R322R	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	397	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.		R -> Q (in dbSNP:rs28568523).		lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GAGACCCGCGGAACAGCTGCT	0.647																																					p.R397R													.	.			0			c.G1191T												132	99	110					16																	89655121		2198	4300	6498	SO:0001819	synonymous_variant	27132	exon12			CCCGCGGAACAGC	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1191G>T	16.37:g.89655121G>T			38	0	0		39	0.08	3	NM_014427	0		0		Silent	SNP	ENST00000268720.5	37	CCDS10980.1																																																																																					0.647	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000269929.2				T	89655121	G	T	89655121	2	4	95	1	0	0	0	0	0	0	0	1	3819	1161	41	3		3	CPNE7	16	89655121	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	5442425	89655121	699632	80	6763											
RTN4RL1	146760	mdanderson.org	37	chr17	1840603	1840603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggctgaggttgaccagGtccacgaagatgtcgtcctg	8	9	15	9	2	0	3	0	2	0	1	3	4	2	3	3	4	0	2	3	4	1	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:1840603G>T	ENST00000331238.6	-	2	992	c.513C>A	c.(511-513)gaC>gaA	p.D171E		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGTTGACCAGGTCCACGAAGA	0.632																																					p.D171E	GBM(68;949 1139 14865 32798 38342)												.	.			0			c.C513A												41	47	45					17																	1840603		2096	4217	6313	SO:0001583	missense	146760	exon2			GACCAGGTCCACG	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.513C>A	17.37:g.1840603G>T	ENSP00000330631:p.Asp171Glu		41	0	0		40	0.1	4	NM_178568	19	0.05	1		Missense_Mutation	SNP	ENST00000331238.6	37	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731380	0.69189	.	.	ENSG00000185924	ENST00000331238	T	0.02446	4.29	5.72	5.72	0.89469	.	0.000000	0.41605	D	0.000860	T	0.06781	0.0173	L	0.43598	1.365	0.45056	D	0.998074	P	0.49783	0.928	P	0.52109	0.69	T	0.07028	-1.0794	10	0.66056	D	0.02	.	12.8619	0.57918	0.0751:0.0:0.9249:0.0	.	171	Q86UN2	R4RL1_HUMAN	E	171	ENSP00000330631:D171E	ENSP00000330631:D171E	D	-	3	2	RTN4RL1	1787353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.516000	0.53436	2.717000	0.92951	0.644000	0.83932	GAC			0.632	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450155.2		NM_178568		T	1840603	G	T	1840603	3	4	95	1	0	0	0	0	1	0	0	0	13754	1252	44	3	816	3	RTN4RL1	17	1840603	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		1840603	79354607	81	6764											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		246	0.0325203252	8		171	0.12	21	NM_145301	64	0.5	32	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	95	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	13616484	15457087	65738123	82	6765											
TNRC6C	57690	mdanderson.org	37	chr17	76047438	76047438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccaccaccaccaccacCactaccacgagcaacaccac	16	2	2	21	1	0	0	0	0	0	0	0	1	0	0	8	0	4	1	8	0	4	2	rs541145487		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:76047438C>T	ENST00000588061.1	+	5	3022	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	TNRC6C_ENST00000541771.1_Silent_p.T765T|TNRC6C_ENST00000335749.4_Silent_p.T765T|TNRC6C_ENST00000544502.1_Silent_p.T765T|TNRC6C_ENST00000301624.4_Silent_p.T765T|TNRC6C_ENST00000588847.1_Silent_p.T765T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	765	Sufficient for interaction with argonaute family proteins.|Thr-rich.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ccaccaccaccactaccacga	0.547													C|||	1	0.000199681	0	0.0014	5008	,	,		14023	0		0	False		,,,				2504	0				p.T765T													.	.			0			c.C2295T												14	16	15					17																	76047438		1740	3495	5235	SO:0001819	synonymous_variant	57690	exon4			CACCACCACTACC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2295C>T	17.37:g.76047438C>T			58	0	0		42	0.07	3	NM_018996	52	0	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																					0.547	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000395947.1		NM_018996		T	76047438	C	T	76047438	2	4	95	1	0	0	0	0	0	0	0	1	16365	581	21	3		3	TNRC6C	17	76047438	Silent	SNP	C	TCGA-SO-A8JP-01A-11D-A435-10	60590351	76047438	5147772	83	6766											
AZI1	22994	broad.mit.edu	37	chr17	79174197	79174197	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgctgcacctggtgccGgtaccagcgctggatggtga	5	7	16	13	4	0	1	0	1	0	0	0	2	0	2	4	4	4	4	4	4	1	1	rs138379046		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:79174197G>T	ENST00000269392.4	-	8	1085	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	AZI1_ENST00000374782.3_Silent_p.R280R|AZI1_ENST00000570482.2_5'UTR|AZI1_ENST00000450824.2_Silent_p.R280R|AZI1_ENST00000575907.1_Silent_p.R280R|RP11-455O6.2_ENST00000571085.1_RNA	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		280	IQ.				cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCTGGTGCCGGTACCAGCGC	0.667																																					p.R280R													.	AZI1	145		0			c.C838A												20	21	21					17																	79174197		2159	4259	6418	SO:0001819	synonymous_variant	22994	exon8			GGTGCCGGTACCA																												ENST00000269392.4:c.838C>A	17.37:g.79174197G>T			109	0	0		122	0.03	4	NM_014984	91	0	0	A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37																																																																																						0.667	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000256070.1				T	79174197	G	T	79174197	2	4	95	1	0	0	0	0	0	0	0	1	1240	1115	39	1		1	AZI1	17	79174197	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	3126759	79174197	2021013	84	6767											
FOXK2	3607	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	80478070	80478070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagctgccgcccgcgcaGcccaggcccgacgccggcgg	4	1	16	20	8	0	0	0	0	0	0	0	2	0	1	6	4	3	2	6	4	0	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:80478070G>C	ENST00000335255.5	+	1	480	c.306G>C	c.(304-306)caG>caC	p.Q102H		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	102	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	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)			cgcccgcgcagcccaggcccg	0.751																																					p.Q102H													.	.			0			c.G306C												2	3	3					17																	80478070		1524	3255	4779	SO:0001583	missense	3607	exon1			CGCGCAGCCCAGG	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.306G>C	17.37:g.80478070G>C	ENSP00000335677:p.Gln102His		45	0	0		130	0.22	29	NM_004514	31	0.16	5	A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.821365	0.32237	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000335241	D	0.93859	-3.3	3.49	3.49	0.39957	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	.	.	.	.	D	0.87087	0.6090	N	0.08118	0	0.26519	N	0.974457	P;P;P	0.48503	0.891;0.911;0.785	P;P;B	0.45377	0.466;0.478;0.366	T	0.80480	-0.1364	9	0.42905	T	0.14	.	12.9759	0.58537	0.0:0.0:1.0:0.0	.	102;102;102	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	H	98;102;102	ENSP00000335677:Q102H	ENSP00000334321:Q102H	Q	+	3	2	FOXK2	78071359	1.000000	0.71417	0.895000	0.35142	0.266000	0.26442	1.349000	0.33998	1.790000	0.52503	0.492000	0.49549	CAG			0.751	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000277099.2		NM_181430		C	80478070	G	C	80478070	3	2	95	1	0	0	0	0	1	0	0	0	6028	962	34	5	308	5	FOXK2	17	80478070	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	1303873	80478070	717140	85	6768											
MEX3C	51320	mdanderson.org	37	chr18	48703101	48703101	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatggctgacttcctctgcGctgagtcttcatgttaccag	7	13	10	11	1	3	3	1	2	2	1	4	3	4	3	2	1	2	3	2	1	1	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr18:48703101G>T	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CTTCCTCTGCGCTGAGTCTTC	0.493																																					p.R534S													.	.			0			c.C1600A												88	85	86					18																	48703101		2203	4300	6503	SO:0001631	upstream_gene_variant	51320	exon2			CTCTGCGCTGAGT	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693		18.37:g.48703101G>T	Exception_encountered		113	0	0		55	0.05	3	NM_016626	236	0	0	A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37		.	.	.	.	.	.	.	.	.	.	G	14.37	2.516261	0.44763	.	.	ENSG00000176624	ENST00000406189	T	0.37235	1.21	5.87	5.87	0.94306	.	0.567693	0.19847	N	0.104733	T	0.37320	0.0999	M	0.64997	1.995	0.36053	D	0.840901	P	0.44380	0.834	B	0.36418	0.224	T	0.47169	-0.9138	10	0.29301	T	0.29	-7.6253	18.9748	0.92731	0.0:0.0:1.0:0.0	.	534	Q5U5Q3	MEX3C_HUMAN	S	534	ENSP00000385610:R534S	ENSP00000385610:R534S	R	-	1	0	MEX3C	46957099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.838000	0.48199	2.779000	0.95612	0.655000	0.94253	CGC			0.493	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding		OTTHUMT00000449559.1		NM_016626		T	48703101	G	T	48703101	1	4	95	0	1	0	0	0	0	0	0	0	9527	1087	38	1		1	MEX3C	18	48703101	5'Flank	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		48703101	29374147	86	6769											
DSEL	92126	mdanderson.org	37	chr18	65178556	65178556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccacaagtgagacaagaggGacactgcatttgatttggat	13	9	12	7	0	0	3	0	2	0	2	0	6	0	5	1	2	1	1	1	2	2	2			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr18:65178556G>T	ENST00000310045.7	-	2	4793	c.3320C>A	c.(3319-3321)tCc>tAc	p.S1107Y	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1097					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGACAAGAGGGACACTGCATT	0.393																																					p.S1107Y													.	.			0			c.C3320A												58	55	56					18																	65178556		2203	4300	6503	SO:0001583	missense	92126	exon2			AAGAGGGACACTG	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3320C>A	18.37:g.65178556G>T	ENSP00000310565:p.Ser1107Tyr		28	0	0		8	0.25	2	NM_032160	4	0	0	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486298	0.44147	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.83914	-1.78	4.79	4.79	0.61399	Sulfotransferase domain (1);	0.251318	0.30302	U	0.009930	D	0.88112	0.6349	L	0.57536	1.79	0.30121	N	0.80567	D	0.56746	0.977	P	0.59288	0.855	D	0.85902	0.1435	10	0.54805	T	0.06	-9.314	18.2029	0.89844	0.0:0.0:1.0:0.0	.	1097	Q8IZU8	DSEL_HUMAN	Y	1107;1097	ENSP00000310565:S1107Y	ENSP00000310565:S1107Y	S	-	2	0	DSEL	63329536	1.000000	0.71417	0.170000	0.22879	0.597000	0.36814	5.776000	0.68924	2.356000	0.79943	0.563000	0.77884	TCC			0.393	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256221.1		NM_032160		T	65178556	G	T	65178556	3	4	95	1	0	0	0	0	1	0	0	0	4780	1174	41	3	352	3	DSEL	18	65178556	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	16475455	65178556	12898692	87	6770											
MIER2	54531	mdanderson.org	37	chr19	308655	308655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctgccatccaggtcctGgtctgcgtccctgtggggag	3	10	15	13	2	1	0	0	0	1	0	5	1	4	1	4	4	2	1	4	4	0	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:308655G>T	ENST00000264819.4	-	12	1130	c.1120C>A	c.(1120-1122)Cag>Aag	p.Q374K	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	374					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)		TCCAGGTCCTGGTCTGCGTCC	0.721																																					p.Q374K													.	.			0			c.C1120A												14	20	18					19																	308655		2196	4286	6482	SO:0001583	missense	54531	exon12			GGTCCTGGTCTGC	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.1120C>A	19.37:g.308655G>T	ENSP00000264819:p.Gln374Lys		49	0	0		47	0.06	3	NM_017550	276	0	0	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190390	0.38707	.	.	ENSG00000105556	ENST00000264819	T	0.14022	2.54	3.38	2.22	0.28083	.	0.600779	0.13487	N	0.384259	T	0.05273	0.0140	N	0.03608	-0.345	0.25661	N	0.986002	B	0.30741	0.293	B	0.22386	0.039	T	0.25222	-1.0138	10	0.59425	D	0.04	-13.7144	7.2203	0.25983	0.0:0.0:0.7353:0.2647	.	374	Q8N344	MIER2_HUMAN	K	374	ENSP00000264819:Q374K	ENSP00000264819:Q374K	Q	-	1	0	MIER2	259655	1.000000	0.71417	0.996000	0.52242	0.842000	0.47809	2.621000	0.46418	1.865000	0.54081	0.462000	0.41574	CAG			0.721	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451784.1		XM_041843		T	308655	G	T	308655	3	4	95	1	0	0	0	0	1	0	0	0	9597	1357	47	3	529	3	MIER2	19	308655	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		308655	58820328	88	6771											
CACNA1A	773	bcgsc.ca	37	chr19	13443726	13443726	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcagtttcatcctcggcGaggatcacctcttctgaaga	8	11	9	13	3	5	2	3	1	2	1	7	4	6	3	3	2	0	1	3	2	1	2	rs540579196		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:13443726G>T	ENST00000360228.5	-	9	1211	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	CACNA1A_ENST00000573710.2_Silent_p.L404L	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	404					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)	CATCCTCGGCGAGGATCACCT	0.572																																					p.L404L													.	CACNA1A	715		0			c.C1212A												69	69	69					19																	13443726		1918	4131	6049	SO:0001819	synonymous_variant	773	exon9			CTCGGCGAGGATC	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.1212C>A	19.37:g.13443726G>T			41	0	0		48	0.08	4	NM_001127222	1	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																					0.572	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104062.2		NM_000068		T	13443726	G	T	13443726	2	4	95	1	0	0	0	0	0	0	0	1	2540	1045	37	1		1	CACNA1A	19	13443726	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	13135071	13443726	45685257	89	6772											
PODNL1	79883	mdanderson.org	37	chr19	14044048	14044048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagcgtgtgcaggccccGcagcggccgcagagccccgg	5	3	17	16	5	0	1	0	0	0	1	0	1	0	1	5	3	5	4	5	3	0	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:14044048G>A	ENST00000339560.5	-	8	1282	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	PODNL1_ENST00000254320.3_Missense_Mutation_p.R255W|PODNL1_ENST00000538371.2_Missense_Mutation_p.R335W|PODNL1_ENST00000538517.2_Missense_Mutation_p.R246W	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	337	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TGCAGGCCCCGCAGCGGCCGC	0.726																																					p.R337W													.	.			0			c.C1009T												3	5	4					19																	14044048		1927	3833	5760	SO:0001583	missense	79883	exon8			GGCCCCGCAGCGG	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1009C>T	19.37:g.14044048G>A	ENSP00000345175:p.Arg337Trp		16	0	0		10	0.2	2	NM_024825	3	0	0	B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003667	0.74932	.	.	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.67	3.63	0.41609	.	0.180017	0.26684	N	0.023034	T	0.70185	0.3195	M	0.65320	2	0.30741	N	0.746138	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.982;0.973	T	0.70608	-0.4825	10	0.72032	D	0.01	.	9.9119	0.41411	0.0993:0.0:0.9007:0.0	.	335;255;246;337	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	W	335;246;337;187;255	ENSP00000442553:R335W;ENSP00000440080:R246W;ENSP00000345175:R337W;ENSP00000254320:R255W	ENSP00000254320:R255W	R	-	1	2	PODNL1	13905048	0.040000	0.19996	0.996000	0.52242	0.975000	0.68041	0.744000	0.26245	0.955000	0.37878	-0.234000	0.12200	CGG			0.726	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457967.1		NM_024825		A	14044048	G	A	14044048	3	1	95	1	0	0	0	0	1	0	0	0	12196	1086	38	1	533	1	PODNL1	19	14044048	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	600322	14044048	45084935	90	6773											
SFRS14	10147	broad.mit.edu	37	chr19	19105286	19105286	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaacccttccccttccgaGggggttcccctagggagtga	6	8	11	16	1	0	1	0	1	0	0	3	3	3	2	7	3	1	1	7	3	2	4			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:19105286G>T	ENST00000601879.1	-	10	3435	c.3138C>A	c.(3136-3138)ccC>ccA	p.P1046P	AC004447.2_ENST00000594142.1_RNA|SUGP2_ENST00000452918.2_Silent_p.P1046P|SUGP2_ENST00000337018.6_Silent_p.P1046P|SUGP2_ENST00000600377.1_Silent_p.P1060P			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	1046	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCCTTCCGAGGGGGTTCCCC	0.567																																					p.P1046P													.	SUGP2	107		0			c.C3138A												151	136	141					19																	19105286		2203	4300	6503	SO:0001819	synonymous_variant	10147	exon10			TTCCGAGGGGGTT	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.3138C>A	19.37:g.19105286G>T			189	0	0		163	0.02	4	NM_014884	111	0	0	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	CCDS12392.1																																																																																					0.567	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464627.1		NM_001017392		T	19105286	G	T	19105286	2	4	95	1	0	0	0	0	0	0	0	1	14193	987	35	3		3	SFRS14	19	19105286	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	5061238	19105286	40023697	91	6774											
PAFAH1B3	5050	mdanderson.org	37	chr19	42806398	42806398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccagggacatccagcGcccgtcgccctgtacgtcct	6	7	10	18	4	1	0	1	0	0	0	4	1	3	1	5	1	2	2	5	1	1	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:42806398G>T	ENST00000262890.3	-	1	325	c.64C>A	c.(64-66)Cgc>Agc	p.R22S	PRR19_ENST00000598490.1_5'UTR|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.R22S|PRR19_ENST00000341747.3_5'UTR	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	22					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				GACATCCAGCGCCCGTCGCCC	0.667																																					p.R22S													.	.			0			c.C64A												29	25	26					19																	42806398		2201	4297	6498	SO:0001583	missense	5050	exon1			TCCAGCGCCCGTC	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"PAF-AH1b alpha 1 subunit"	603074	"platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)", "platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.64C>A	19.37:g.42806398G>T	ENSP00000262890:p.Arg22Ser		62	0	0		50	0.06	3	NM_002573	435	0.01	3	Q53X88	Missense_Mutation	SNP	ENST00000262890.3	37	CCDS12602.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199034	0.79015	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.43688	0.94;0.94	5.48	4.45	0.53987	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.68484	-0.5396	10	0.48119	T	0.1	-20.2117	11.9732	0.53075	0.0844:0.0:0.9156:0.0	.	22	Q15102	PA1B3_HUMAN	S	22	ENSP00000444935:R22S;ENSP00000262890:R22S	ENSP00000262890:R22S	R	-	1	0	PAFAH1B3	47498238	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	5.583000	0.67484	1.318000	0.45170	-0.339000	0.08088	CGC			0.667	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463726.1		NM_002573		T	42806398	G	T	42806398	3	4	95	1	0	0	0	0	1	0	0	0	11403	1087	38	1	651	1	PAFAH1B3	19	42806398	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	23701112	42806398	16322585	92	6775											
SFRS16	11129	mdanderson.org	37	chr19	45567750	45567750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtcccgctcctggtcccGctcccgctcccgctcccggc	0	7	10	24	6	0	0	0	0	0	0	6	0	6	0	7	3	0	4	7	3	0	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:45567750G>T	ENST00000221455.3	+	13	1369	c.1271G>T	c.(1270-1272)cGc>cTc	p.R424L	CLASRP_ENST00000544944.2_Missense_Mutation_p.R424L|CLASRP_ENST00000391953.4_Missense_Mutation_p.R362L	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	424	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						tcctggtcccgctcccgctcc	0.756																																					p.R424L													.	.			0			c.G1271T												5	7	6					19																	45567750		1852	3586	5438	SO:0001583	missense	11129	exon13			GGTCCCGCTCCCG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1271G>T	19.37:g.45567750G>T	ENSP00000221455:p.Arg424Leu		21	0	0		16	0.19	3	NM_007056	131	0	0	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755607	0.49362	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	4.52	4.52	0.55395	.	.	.	.	.	T	0.08582	0.0213	N	0.19112	0.55	0.43613	D	0.99598	D;P;P	0.56035	0.974;0.862;0.784	B;B;B	0.43445	0.42;0.28;0.145	T	0.25710	-1.0124	9	0.37606	T	0.19	-1.745	12.6473	0.56742	0.0:0.0:1.0:0.0	.	362;424;424	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	L	424;424;362;424	ENSP00000221455:R424L;ENSP00000375814:R424L;ENSP00000375815:R362L;ENSP00000438702:R424L	ENSP00000221455:R424L	R	+	2	0	CLASRP	50259590	0.956000	0.32656	0.963000	0.40424	0.925000	0.55904	2.310000	0.43708	2.354000	0.79902	0.655000	0.94253	CGC			0.756	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316749.1		NM_007056		T	45567750	G	T	45567750	3	4	95	1	0	0	0	0	1	0	0	0	14195	1087	38	1	1317	1	SFRS16	19	45567750	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	2761352	45567750	13561233	93	6776											
NKPD1	284353	mdanderson.org	37	chr19	45661943	45661943	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtaggcagtgaaggaGccacaggccgctggggcggg	8	4	20	9	2	0	1	0	1	0	0	0	3	0	2	2	6	2	4	2	6	2	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:45661943G>T	ENST00000438936.2	-	0	52				NKPD1_ENST00000317951.4_Silent_p.G169G			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1							integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAGTGAAGGAGCCACAGGCCG	0.706																																					p.G169G													.	.			0			c.C507A												6	10	9					19																	45661943		674	1563	2237	SO:0001623	5_prime_UTR_variant	284353	exon2			GAAGGAGCCACAG	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.-160C>A	19.37:g.45661943G>T			19	0	0		19	0.11	2	NM_198478	5	0	0	B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	ENST00000438936.2	37																																																																																						0.706	NKPD1-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000360950.2		NM_198478		T	45661943	G	T	45661943	1	4	95	0	1	0	0	0	0	0	0	0	10463	958	34	2		2	NKPD1	19	45661943	5'UTR	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	94193	45661943	13467040	94	6777											
KLK10	5655	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	51518067	51518067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatctggatcagttggagcGtatgactttattgatccagg	9	13	12	7	1	2	2	1	2	1	0	3	4	3	4	1	3	1	3	1	3	2	5	rs370110864		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:51518067G>T	ENST00000309958.3	-	6	1038	c.820C>A	c.(820-822)Cgc>Agc	p.R274S	CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000358789.3_Missense_Mutation_p.R274S|KLK10_ENST00000391805.1_Missense_Mutation_p.R274S|CTB-147C22.9_ENST00000594512.1_RNA	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	274	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGTTGGAGCGTATGACTTTA	0.537																																					p.R274S													KLK10,NS,carcinoma,+1,1	KLK10	1	1	0			c.C820A												150	135	140					19																	51518067		2203	4300	6503	SO:0001583	missense	5655	exon6			TGGAGCGTATGAC	AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"Kallikreins"	6358	protein-coding gene	gene with protein product		602673	"kallikrein 10"	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.820C>A	19.37:g.51518067G>T	ENSP00000311746:p.Arg274Ser		73	0	0		64	0.06	4	NM_145888	5	0	0	A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	g	10.94	1.493091	0.26774	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.92911	-3.13;-3.13;-3.13	4.55	-0.8	0.10897	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	D	0.84804	0.5553	L	0.33093	0.98	0.09310	N	1	B	0.29988	0.264	B	0.25291	0.059	T	0.73701	-0.3900	9	0.48119	T	0.1	.	8.2428	0.31671	0.0:0.4134:0.3053:0.2813	.	274	O43240	KLK10_HUMAN	S	274	ENSP00000375681:R274S;ENSP00000311746:R274S;ENSP00000351640:R274S	ENSP00000311746:R274S	R	-	1	0	KLK10	56209879	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.237000	0.08990	0.100000	0.17581	-0.479000	0.04858	CGC			0.537	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464337.2		NM_002776		T	51518067	G	T	51518067	3	4	95	1	0	0	0	0	1	0	0	0	8413	1145	40	1	14	1	KLK10	19	51518067	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	5856124	51518067	7610916	95	6778											
LILRB3	11025	mdanderson.org	37	chr19	54724044	54724044	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtggagggcggcccTgtgggtgggaggctggagcc	4	6	22	9	1	0	0	0	0	0	0	0	3	0	3	3	8	1	1	3	8	0	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:54724044T>A	ENST00000391750.1	-	8	1426	c.1290A>T	c.(1288-1290)acA>acT	p.T430T	LILRB3_ENST00000407860.2_Silent_p.T430T|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Silent_p.T430T|LILRB3_ENST00000424807.1_Silent_p.T430T|LILRB3_ENST00000346401.6_Intron|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Silent_p.T430T|LILRB3_ENST00000245620.9_Silent_p.T430T			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	430					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)		AGGGCGGCCCTGTGGGTGGGA	0.697																																					p.T430T													.	.			0			c.A1290T												5	6	6					19																	54724044		1792	3192	4984	SO:0001819	synonymous_variant	11025	exon7			CGGCCCTGTGGGT	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.1290A>T	19.37:g.54724044T>A			40	0	0		42	0.07	3	NM_006864	3	0	0	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																					0.697	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000142844.5		NM_006864		A	54724044	T	A	54724044	2	1	95	1	0	0	0	0	0	0	0	1	8807	1567	55	5		5	LILRB3	19	54724044	Silent	SNP	T	TCGA-SO-A8JP-01A-11D-A435-10	3205977	54724044	4404939	96	6779											
GATSL3	652968	mdanderson.org	37	chr22	30685382	30685382	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgggcgcgcaccggctgcgGcggggcaggaagagcagctt	6	3	19	13	6	0	1	0	0	0	1	0	2	0	2	2	6	3	5	2	6	1	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr22:30685382G>T	ENST00000407689.3	-	1	234	c.105C>A	c.(103-105)cgC>cgA	p.R35R	RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000404953.3_Silent_p.R35R|GATSL3_ENST00000459785.1_5'Flank	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	35										breast(1)|endometrium(1)|lung(1)	3						ACCGGCTGCGGCGGGGCAGGA	0.692																																					p.R35R													.	.			0			c.C105A												8	12	11					22																	30685382		1596	3726	5322	SO:0001819	synonymous_variant	652968	exon1			GCTGCGGCGGGGC		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.105C>A	22.37:g.30685382G>T			20	0	0		36	0.08	3	NM_001037666	35	0	0	O76052|Q96ND9|Q9UIE8	Silent	SNP	ENST00000407689.3	37	CCDS43001.1																																																																																					0.692	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320581.2		NM_001037666		T	30685382	G	T	30685382	2	4	95	1	0	0	0	0	0	0	0	1	6279	1190	42	2		2	GATSL3	22	30685382	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		30685382	20619184	97	6780											
ELFN2	114794	mdanderson.org	37	chr22	37770851	37770851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattccgacacttggcctGgagtacggtgatggcgttga	7	10	14	10	3	0	2	0	2	0	0	1	4	1	3	3	4	1	2	3	4	1	4			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr22:37770851G>T	ENST00000402918.2	-	3	1509	c.724C>A	c.(724-726)Cag>Aag	p.Q242K	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|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	242	LRRCT.				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)					CACTTGGCCTGGAGTACGGTG	0.687																																					p.Q242K													.	.			0			c.C724A												35	45	42					22																	37770851		2203	4299	6502	SO:0001583	missense	114794	exon3			TGGCCTGGAGTAC	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.724C>A	22.37:g.37770851G>T	ENSP00000385277:p.Gln242Lys		30	0	0		43	0.07	3	NM_052906	8	0	0	Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440559	0.25900	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.49432	0.78;0.78	4.96	4.96	0.65561	.	0.268386	0.37530	N	0.002060	T	0.42877	0.1222	L	0.53249	1.67	0.41181	D	0.986231	B	0.06786	0.001	B	0.06405	0.002	T	0.28459	-1.0043	10	0.22706	T	0.39	-24.7295	14.342	0.66633	0.0:0.0:0.8512:0.1488	.	242	Q5R3F8	PPR29_HUMAN	K	242	ENSP00000300147:Q242K;ENSP00000385277:Q242K	ENSP00000300147:Q242K	Q	-	1	0	ELFN2	36100797	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.304000	0.59104	2.468000	0.83385	0.609000	0.83330	CAG			0.687	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318900.2		NM_052906		T	37770851	G	T	37770851	3	4	95	1	0	0	0	0	1	0	0	0	5065	1357	47	3	1742	3	ELFN2	22	37770851	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	7085469	37770851	13533715	98	6781											
FBLN1	2192	hgsc.bcm.edu;broad.mit.edu	37	chr22	45928977	45928977	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcagtgccgagacacGggtgacgaggtggtctgctc	9	6	16	10	3	1	2	0	1	1	1	2	4	1	2	1	3	4	3	1	3	1	0			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr22:45928977G>T	ENST00000327858.6	+	6	674	c.579G>T	c.(577-579)acG>acT	p.T193T	FBLN1_ENST00000262722.7_Silent_p.T193T|FBLN1_ENST00000340923.5_Silent_p.T193T|FBLN1_ENST00000442170.2_Silent_p.T193T|FBLN1_ENST00000348697.2_Silent_p.T193T|FBLN1_ENST00000402984.3_Silent_p.T231T	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	193	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GCCGAGACACGGGTGACGAGG	0.627																																					p.T193T													.	.			0			c.G579T												147	98	115					22																	45928977		2203	4300	6503	SO:0001819	synonymous_variant	2192	exon6			AGACACGGGTGAC		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.579G>T	22.37:g.45928977G>T			108	0	0		113	0.05	6	NM_006487	1125	0	0	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																					0.627	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000322287.1		NM_006486		T	45928977	G	T	45928977	2	4	95	1	0	0	0	0	0	0	0	1	5711	1103	39	1		1	FBLN1	22	45928977	Silent	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	8158126	45928977	5375589	99	6782											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656423	50656423	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagttggggtgctctgcAccccgcgggcccccaggggg	5	5	17	14	2	1	0	0	0	1	0	1	0	1	0	4	5	2	4	4	5	1	1			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr22:50656423A>C	ENST00000248846.5	-	24	5396	c.5292T>G	c.(5290-5292)ggT>ggG	p.G1764G	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1764					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGTGCTCTGCACCCCGCGGGC	0.617																																					p.G1764G													.	TUBGCP6	132		0			c.T5292G												22	29	27					22																	50656423		2163	4221	6384	SO:0001819	synonymous_variant	85378	exon24			CTCTGCACCCCGC	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5292T>G	22.37:g.50656423A>C			55	0.1454545455	8		44	0.3	13	NM_020461	72	0.18	13	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1																																																																																					0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075004.3		NM_020461		C	50656423	A	C	50656423	2	2	95	1	0	0	0	0	0	0	0	1	16794	146	6	4		4	TUBGCP6	22	50656423	Silent	SNP	A	TCGA-SO-A8JP-01A-11D-A435-10	4727446	50656423	648143	100	6783											
CDKL5	6792	broad.mit.edu	37	chrX	18622108	18622108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtgtaggcctgccccGggctgacgaaggtctccctg	5	8	14	14	2	1	2	0	2	1	0	2	3	1	2	5	3	1	2	5	3	2	1	rs189400843		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chrX:18622108G>T	ENST00000379989.3	+	13	1349	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	CDKL5_ENST00000379996.3_Missense_Mutation_p.R355L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	355					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)					GGCCTGCCCCGGGCTGACGAA	0.498																																					p.R355L													.	CDKL5	124		0			c.G1064T												140	143	142					X																	18622108		2203	4300	6503	SO:0001583	missense	6792	exon12			TGCCCCGGGCTGA	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.1064G>T	X.37:g.18622108G>T	ENSP00000369325:p.Arg355Leu		222	0.0045045045	1		257	0.02	4	NM_003159	19	0	0	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361165	0.82353	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71934	-0.61;-0.61	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	L	0.34521	1.04	0.48185	D	0.9996	D	0.89917	1.0	D	0.81914	0.995	T	0.80908	-0.1172	10	0.87932	D	0	-16.5214	19.1693	0.93570	0.0:0.0:1.0:0.0	.	355	O76039	CDKL5_HUMAN	L	355	ENSP00000369332:R355L;ENSP00000369325:R355L	ENSP00000369325:R355L	R	+	2	0	CDKL5	18532029	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	9.391000	0.97249	2.478000	0.83669	0.600000	0.82982	CGG			0.498	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055945.2		NM_003159		T	18622108	G	T	18622108	3	4	95	1	0	0	0	0	1	0	0	0	3159	1116	39	1	1106	1	CDKL5	23	18622108	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10		18622108	136648452	101	6784											
F8	2157	broad.mit.edu	37	chrX	154133089	154133089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatagacacctgcttaccagGtcaacatcagagaaataagc	17	7	7	10	0	2	2	2	0	0	2	2	3	2	2	2	1	4	1	2	1	6	3			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chrX:154133089G>T	ENST00000360256.4	-	16	5783	c.5583C>A	c.(5581-5583)gaC>gaA	p.D1861E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1861	F5/8 type A 3.|Plastocyanin-like 5.				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)	TGCTTACCAGGTCAACATCAG	0.373																																					p.D1861E													.	F8	646		0			c.C5583A												98	80	86					X																	154133089		2203	4300	6503	SO:0001583	missense	2157	exon16			TACCAGGTCAACA	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.5583C>A	X.37:g.154133089G>T	ENSP00000353393:p.Asp1861Glu		98	0	0		122	0.03	4	NM_000132	16	0	0	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064098	0.55432	.	.	ENSG00000185010	ENST00000360256	D	0.98901	-5.22	4.91	0.543	0.17179	Cupredoxin (2);	0.098056	0.64402	D	0.000002	D	0.98273	0.9428	M	0.76170	2.325	0.42504	D	0.992946	D	0.53619	0.961	P	0.58820	0.846	D	0.97086	0.9787	10	0.72032	D	0.01	-23.5799	7.2093	0.25925	0.5506:0.0:0.4494:0.0	.	1861	P00451	FA8_HUMAN	E	1861	ENSP00000353393:D1861E	ENSP00000353393:D1861E	D	-	3	2	F8	153786283	0.955000	0.32602	1.000000	0.80357	0.961000	0.63080	0.124000	0.15728	0.184000	0.20083	-0.522000	0.04353	GAC			0.373	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058869.4				T	154133089	G	T	154133089	3	4	95	1	0	0	0	0	1	0	0	0	5357	1252	44	3	1544	3	F8	23	154133089	Missense_Mutation	SNP	G	TCGA-SO-A8JP-01A-11D-A435-10	135510981	154133089	1137471	102	6785											
SCNN1D	6339	broad.mit.edu	37	chr1	1221416	1221416	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctcgttccgggagctGctcaccttcttctgcaccaa	5	10	8	18	3	3	0	1	0	2	0	5	1	4	1	5	1	3	4	5	1	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:1221416G>A	ENST00000338555.2	+	4	1321	c.177G>A	c.(175-177)ctG>ctA	p.L59L	SCNN1D_ENST00000379116.5_Silent_p.L223L|SCNN1D_ENST00000325425.8_Silent_p.L125L|SCNN1D_ENST00000400928.3_Silent_p.L59L			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	59					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-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;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TCCGGGAGCTGCTCACCTTCT	0.701																																					p.L223L													.	SCNN1D	60		0			c.G669A												25	19	21					1																	1221416		2160	4263	6423	SO:0001819	synonymous_variant	6339	exon7			GGAGCTGCTCACC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.177G>A	1.37:g.1221416G>A			110	0	0		100	0.03	3	NM_001130413	0		0	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37																																																																																						0.701	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000005802.2		NM_002978		A	1221416	G	A	1221416	2	1	96	1	0	0	0	0	0	0	0	1	13952	1306	46	2		2	SCNN1D	1	1221416	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		1221416	248029205	1	6786											
SKI	6497	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	2235825	2235825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtgcgcgtgccctgccctCggccgtccctgatgctgcgg	1	8	16	16	5	0	1	0	1	0	0	2	1	1	1	4	3	5	1	4	3	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:2235825C>T	ENST00000378536.4	+	5	1640	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	523					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCCCTGCCCTCGGCCGTCCCT	0.706																																					p.S523L	Ovarian(177;144 1678 13697 20086 27838 40755)												.	SKI	33		0			c.C1568T																																									SO:0001583	missense	6497	exon5			TGCCCTCGGCCGT	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1568C>T	1.37:g.2235825C>T	ENSP00000367797:p.Ser523Leu		78	0.0128205128	1		57	0.49	28	NM_003036	24	0.54	13	Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	CCDS39.1	.	.	.	.	.	.	.	.	.	.	C	4.679	0.126318	0.08931	.	.	ENSG00000157933	ENST00000378536	D	0.96011	-3.88	4.37	1.43	0.22495	.	3.607560	0.01058	N	0.004585	D	0.91761	0.7394	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.79560	-0.1753	10	0.26408	T	0.33	8.0E-4	7.004	0.24826	0.0:0.6234:0.0:0.3766	.	523	P12755	SKI_HUMAN	L	523	ENSP00000367797:S523L	ENSP00000367797:S523L	S	+	2	0	SKI	2225685	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.371000	0.07513	0.115000	0.18071	0.561000	0.74099	TCG			0.706	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004070.1		NM_003036		T	2235825	C	T	2235825	3	4	96	1	0	0	0	0	1	0	0	0	14380	893	31	1	1586	1	SKI	1	2235825	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1014409	2235825	247014796	2	6787											
PLOD1	5351	broad.mit.edu	37	chr1	12034807	12034808	+	Frame_Shift_Ins	INS	-	-	G																															cgactcacgcattaccatgaINSggggctccccaccaccaggg																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:12034807_12034808insG	ENST00000196061.4	+	19	2153_2154	c.2126_2127insG	c.(2125-2130)gaggggfs	p.EG709fs	PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.EG756fs	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	709	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	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;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CATTACCATGAGGGGCTCCCCA	0.619																																					p.E709fs													.	PLOD1	75		0			c.2126_2127insG																																									SO:0001589	frameshift_variant	5351	exon19			ACCATGAGGGGCT	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.2130dupG	1.37:g.12034811_12034811dupG	ENSP00000196061:p.Glu709fs		283	0	0		327	0.02	7	NM_000302	375	0	0	B4DR87|Q96AV9|Q9H132	Frame_Shift_Ins	INS	ENST00000196061.4	37	CCDS142.1																																																																																					0.619	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000006865.1		NM_000302		G	12034808	-	G	12034807	7	5	96	1	0	1	1	0	0	0	0	0	12118	304	11	0	2200	0	PLOD1	1	12034807	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	9798982	12034807	237215814	3	6788											
TMEM82	388595	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	16069671	16069671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctccgggccgtgtccacGctgctgtccctgggcaaggt	3	9	13	16	3	0	0	0	0	0	0	4	0	4	0	5	3	1	3	5	3	1	0	rs138383534	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:16069671G>A	ENST00000375782.1	+	3	456	c.318G>A	c.(316-318)acG>acA	p.T106T	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_3'UTR	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	106	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGTCCACGCTGCTGTCCC	0.706													G|||	15	0.00299521	0.0106	0.0014	5008	,	,		13785	0		0	False		,,,				2504	0				p.T106T													.	.			0			c.G318A							G		39,4361	41.6+/-74.8	0,39,2161	35	34	34		318	-8.9	0.2	1	dbSNP_134	34	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	TMEM82	NM_001013641.1		0,41,6457	AA,AG,GG		0.0233,0.8864,0.3155		106/344	16069671	41,12955	2200	4298	6498	SO:0001819	synonymous_variant	388595	exon3			GTCCACGCTGCTG		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.318G>A	1.37:g.16069671G>A			24	0	0		38	0.21	8	NM_001013641	0		0	B2RP27|Q5VVD4	Silent	SNP	ENST00000375782.1	37	CCDS30608.1																																																																																			0.003		0.706	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008471.2		NM_001013641		A	16069671	G	A	16069671	2	1	96	1	0	0	0	0	0	0	0	1	16229	1074	38	1		1	TMEM82	1	16069671	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4034864	16069671	233180950	4	6789											
FBLIM1	54751	broad.mit.edu	37	chr1	16091540	16091540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaccctggcacccccgcGccgcgatgtggccgtggcgg	4	6	14	17	6	1	0	1	0	0	0	1	1	1	0	5	4	0	1	5	4	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:16091540G>T	ENST00000375766.3	+	3	702	c.62G>T	c.(61-63)cGc>cTc	p.R21L	FBLIM1_ENST00000375771.1_Missense_Mutation_p.R21L|FBLIM1_ENST00000332305.5_Missense_Mutation_p.R21L|FBLIM1_ENST00000400773.1_Missense_Mutation_p.R21L|FBLIM1_ENST00000441801.2_Missense_Mutation_p.R21L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	21	Filamin-binding.|Intrinsically disordered.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCACCCCCGCGCCGCGATGTG	0.657																																					p.R21L													.	FBLIM1	46		0			c.G62T												71	69	70					1																	16091540		2203	4300	6503	SO:0001583	missense	54751	exon2			CCCCGCGCCGCGA		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.62G>T	1.37:g.16091540G>T	ENSP00000364921:p.Arg21Leu		53	0	0		62	0.05	3	NM_001024215	85	0	0	B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345480	0.61073	.	.	ENSG00000162458	ENST00000496928;ENST00000508310;ENST00000510393;ENST00000375771;ENST00000502638;ENST00000375766;ENST00000400773;ENST00000483633;ENST00000502739;ENST00000431771;ENST00000441801;ENST00000332305	T;T;T;T;T;T;T;T;T	0.67698	-0.28;0.12;0.12;-0.18;0.01;0.49;-0.01;0.04;-0.18	4.69	4.69	0.59074	.	0.067096	0.64402	D	0.000014	T	0.80433	0.4622	M	0.73598	2.24	0.27200	N	0.96019	D;D;D	0.89917	0.996;0.998;1.0	P;D;D	0.80764	0.841;0.994;0.947	T	0.73678	-0.3907	10	0.44086	T	0.13	.	15.1344	0.72552	0.0:0.0:1.0:0.0	.	21;21;21	Q8WUP2-3;Q8WUP2-2;Q8WUP2	.;.;FBLI1_HUMAN	L	21	ENSP00000421885:R21L;ENSP00000364926:R21L;ENSP00000364921:R21L;ENSP00000383584:R21L;ENSP00000427052:R21L;ENSP00000424920:R21L;ENSP00000402401:R21L;ENSP00000416387:R21L;ENSP00000364920:R21L	ENSP00000364920:R21L	R	+	2	0	FBLIM1	15964127	0.988000	0.35896	0.907000	0.35723	0.306000	0.27790	3.071000	0.50041	2.310000	0.77875	0.655000	0.94253	CGC			0.657	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008511.3		NM_001024215		T	16091540	G	T	16091540	3	4	96	1	0	0	0	0	1	0	0	0	5710	1087	38	1	64	1	FBLIM1	1	16091540	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	21869	16091540	233159081	5	6790											
NBPF1	55672	broad.mit.edu	37	chr1	16907261	16907262	+	Frame_Shift_Ins	INS	-	-	T																															gggagaatgtttacagcatcINSctgacattcatcatgagagg																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:16907261_16907262insT	ENST00000430580.2	-	16	2456_2457	c.1569_1570insA	c.(1567-1572)caggatfs	p.D524fs	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	524	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTTACAGCATCCTGACATTCAT	0.45																																					.													.	.			0			.																																									SO:0001589	frameshift_variant	55672	.			CAGCATCCTGACA	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1569_1570insA	1.37:g.16907261_16907262insT	ENSP00000474456:p.Asp524fs		1116	0	0		1154	0	3	.	0		0	Q8N4E8|Q9C0H0	Frame_Shift_Ins	INS	ENST00000430580.2	37																																																																																						0.45	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000106436.3		NM_017940		T	16907262	-	T	16907261	7	5	96	1	0	1	1	0	0	0	0	0	10208	855	30	0	1910	0	NBPF1	1	16907261	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	815721	16907261	232343360	6	6791											
PADI6	353238	broad.mit.edu	37	chr1	17718621	17718621	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggcagggagctgcagctGcagggttttgtggacacagt	8	9	16	8	0	0	0	0	0	0	0	0	2	0	2	0	4	4	6	0	4	0	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:17718621G>A	ENST00000434762.2	+	0	1025							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)	AGCTGCAGCTGCAGGGTTTTG	0.567																																					p.L325L													.	PADI6	51		0			c.G975A												31	40	37					1																	17718621		2016	4170	6186			353238	exon9			GCAGCTGCAGGGT	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.17718621G>A			273	0.0036630037	1		290	0.01	4	NM_207421	0		0	Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.567	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000006804.4		NM_207421		A	17718621	G	A	17718621	1	1	96	0	1	0	0	0	0	0	0	0	11398	1306	46	2		2	PADI6	1	17718621	RNA	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	811360	17718621	231532000	7	6792											
UBR4	23352	broad.mit.edu	37	chr1	19482779	19482779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaccttaacaaagtctgCggtgacaattgctaactcgg	11	11	9	10	2	1	1	0	1	1	0	2	1	1	1	1	2	5	2	1	2	5	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:19482779C>T	ENST00000375254.3	-	42	6085	c.6058G>A	c.(6058-6060)Gca>Aca	p.A2020T	UBR4_ENST00000375217.2_Missense_Mutation_p.A2020T|UBR4_ENST00000375226.2_Missense_Mutation_p.A2020T|UBR4_ENST00000375267.2_Missense_Mutation_p.A2020T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2020					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)		ACAAAGTCTGCGGTGACAATT	0.438																																					p.A2020T													.	UBR4	415		0			c.G6058A												124	113	117					1																	19482779		2203	4300	6503	SO:0001583	missense	23352	exon42			AGTCTGCGGTGAC	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.6058G>A	1.37:g.19482779C>T	ENSP00000364403:p.Ala2020Thr		296	0.0067567568	2		317	0.02	6	NM_020765	1	0	0	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	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034548	0.93575	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;3.27	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.37561	1.115	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.00630	-1.1636	10	0.29301	T	0.29	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	2020	Q5T4S7	UBR4_HUMAN	T	2020;2020;2020;2020;730;1236	ENSP00000364403:A2020T;ENSP00000364416:A2020T;ENSP00000364365:A2020T;ENSP00000364374:A2020T;ENSP00000404897:A730T	ENSP00000364365:A2020T	A	-	1	0	UBR4	19355366	1.000000	0.71417	0.907000	0.35723	0.909000	0.53808	7.076000	0.76806	2.814000	0.96858	0.591000	0.81541	GCA			0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007085.1		NM_020765		T	19482779	C	T	19482779	3	4	96	1	0	0	0	0	1	0	0	0	16928	768	27	1	9753	1	UBR4	1	19482779	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1764158	19482779	229767842	8	6793											
SLC30A2	7780	broad.mit.edu	37	chr1	26368222	26368222	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaggatcacatctctcagGatggtcaaggttgtccccag	10	9	10	12	0	4	0	3	0	1	0	6	2	5	2	3	4	0	1	3	4	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:26368222G>T	ENST00000374278.3	-	5	876	c.660C>A	c.(658-660)atC>atA	p.I220I	SLC30A2_ENST00000374276.3_Silent_p.I269I|SLC30A2_ENST00000498060.1_5'Flank	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	220					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CATCTCTCAGGATGGTCAAGG	0.512																																					p.I269I													.	SLC30A2	29		0			c.C807A												169	126	140					1																	26368222		2203	4300	6503	SO:0001819	synonymous_variant	7780	exon6			TCTCAGGATGGTC	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.660C>A	1.37:g.26368222G>T			104	0	0		247	0.02	6	NM_001004434	8	0	0	Q71RC8	Silent	SNP	ENST00000374278.3	37	CCDS272.1																																																																																					0.512	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000019742.1		NM_032513		T	26368222	G	T	26368222	2	4	96	1	0	0	0	0	0	0	0	1	14578	1164	41	3		3	SLC30A2	1	26368222	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6885443	26368222	222882399	9	6794											
FAM46B	115572	broad.mit.edu	37	chr1	27332836	27332836	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacatcggtgctgggccGgggccggaagccccgcacca	6	3	16	16	5	0	0	0	0	0	0	1	1	0	1	5	5	2	3	5	5	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:27332836G>T	ENST00000289166.5	-	2	1042	c.877C>A	c.(877-879)Cgg>Agg	p.R293R		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	293										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		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;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCTGGGCCGGGGCCGGAAG	0.677																																					p.R293R													FAM46B,NS,carcinoma,+1,1	FAM46B	44	1	0			c.C877A												17	20	19					1																	27332836		2193	4285	6478	SO:0001819	synonymous_variant	115572	exon2			TGGGCCGGGGCCG	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.877C>A	1.37:g.27332836G>T			76	0	0		161	0.02	3	NM_052943	484	0	0		Silent	SNP	ENST00000289166.5	37	CCDS294.2																																																																																					0.677	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012347.2		NM_052943		T	27332836	G	T	27332836	2	4	96	1	0	0	0	0	0	0	0	1	5579	1115	39	1		1	FAM46B	1	27332836	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	964614	27332836	221917785	10	6795											
MECR	51102	broad.mit.edu	37	chr1	29522739	29522739	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgacgggctgcttggccaTccccccataggttaccatgg	7	9	11	14	2	0	0	0	0	0	0	1	1	1	0	5	4	3	3	5	4	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:29522739T>C	ENST00000263702.6	-	8	887	c.862A>G	c.(862-864)Atg>Gtg	p.M288V	MECR_ENST00000373791.3_Missense_Mutation_p.M212V			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	288					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TGCTTGGCCATCCCCCCATAG	0.602																																					p.M288V													.	MECR	31		0			c.A862G												63	59	61					1																	29522739		2203	4300	6503	SO:0001583	missense	51102	exon8			TGGCCATCCCCCC		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.862A>G	1.37:g.29522739T>C	ENSP00000263702:p.Met288Val		206	0.0097087379	2		391	0.02	8	NM_016011	161	0	0	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	CCDS30659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.26|18.26	3.583722|3.583722	0.65992|0.65992	.|.	.|.	ENSG00000116353|ENSG00000116353	ENST00000373792;ENST00000453185|ENST00000373791;ENST00000263702	.|T;T	.|0.36340	.|1.26;1.26	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48059|0.48059	0.1479|0.1479	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|B	.|0.31485	.|0.325	.|B	.|0.35607	.|0.206	T|T	0.56105|0.56105	-0.8034|-0.8034	6|10	0.11182|0.72032	T|D	0.66|0.01	.|.	12.8542|12.8542	0.57876|0.57876	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|288	.|Q9BV79	.|MECR_HUMAN	G|V	248;175|212;288	.|ENSP00000362896:M212V;ENSP00000263702:M288V	ENSP00000362897:D248G|ENSP00000263702:M288V	D|M	-|-	2|1	0|0	MECR|MECR	29395326|29395326	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.992000|0.992000	0.81027|0.81027	7.416000|7.416000	0.80143|0.80143	2.129000|2.129000	0.65627|0.65627	0.459000|0.459000	0.35465|0.35465	GAT|ATG			0.602	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130740.1		NM_016011		C	29522739	T	C	29522739	3	2	96	1	0	0	0	0	1	0	0	0	9440	1435	50	4	271	4	MECR	1	29522739	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	2189903	29522739	219727882	11	6796											
MATN1	4146	broad.mit.edu	37	chr1	31194457	31194458	+	Frame_Shift_Ins	INS	-	-	G																															atagttgaccatgcccacccINSgggtggcattgggccccacg																								rs143188575		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:31194457_31194458insG	ENST00000373765.4	-	2	270_271	c.235_236insC	c.(235-237)cggfs	p.R79fs	MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	79	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CATGCCCACCCGGGTGGCATTG	0.604																																					p.R79fs													.	MATN1	28		0			c.236_237insC																																									SO:0001589	frameshift_variant	4146	exon2			CCCACCCGGGTGG	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.236dupC	1.37:g.31194460_31194460dupG	ENSP00000362870:p.Arg79fs		141	0	0		260	0.02	6	NM_002379	0		0	B2R7E3|Q5TBB9	Frame_Shift_Ins	INS	ENST00000373765.4	37	CCDS336.1																																																																																					0.604	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010458.1		NM_002379		G	31194458	-	G	31194457	7	5	96	1	0	1	1	0	0	0	0	0	9349	652	23	0	1282	0	MATN1	1	31194457	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	1671718	31194457	218056164	12	6797											
KPNA6	23633	broad.mit.edu	37	chr1	32623874	32623874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccttatccagagcctaGtcctccaatagatgaagtta	11	12	6	12	0	1	3	0	1	1	2	5	3	4	3	5	0	1	1	5	0	6	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:32623874G>T	ENST00000373625.3	+	5	431	c.338G>T	c.(337-339)aGt>aTt	p.S113I	KPNA6_ENST00000537234.1_Missense_Mutation_p.S110I|KPNA6_ENST00000545542.1_Missense_Mutation_p.S118I|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	113					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCAGAGCCTAGTCCTCCAATA	0.448																																					p.S113I													.	KPNA6	34		0			c.G338T												195	197	197					1																	32623874		2203	4300	6503	SO:0001583	missense	23633	exon5			AGCCTAGTCCTCC	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.338G>T	1.37:g.32623874G>T	ENSP00000362728:p.Ser113Ile		196	0.0102040816	2		304	0.02	5	NM_012316	20	0	0	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	CCDS352.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476223	0.63737	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.71461	-0.57;-0.57;-0.57;1.28	5.28	4.15	0.48705	Armadillo-like helical (1);Armadillo-type fold (1);	0.081933	0.85682	D	0.000000	T	0.63283	0.2498	M	0.64997	1.995	0.49798	D	0.999825	B;B;B	0.23249	0.001;0.049;0.082	B;B;B	0.25987	0.006;0.065;0.02	T	0.66850	-0.5819	10	0.87932	D	0	-1.2131	3.9197	0.09237	0.3368:0.0:0.6632:0.0	.	118;118;113	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	I	113;87;110;118;64	ENSP00000362728:S113I;ENSP00000444930:S110I;ENSP00000440609:S118I;ENSP00000415677:S64I	ENSP00000362719:S87I	S	+	2	0	KPNA6	32396461	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.586000	0.82596	2.645000	0.89757	0.561000	0.74099	AGT			0.448	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000012527.4		NM_012316		T	32623874	G	T	32623874	3	4	96	1	0	0	0	0	1	0	0	0	8449	1029	36	3	356	3	KPNA6	1	32623874	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1429417	32623874	216626747	13	6798											
TSSK3	81629	broad.mit.edu	37	chr1	32829624	32829624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgatagcaaaaaaggtGatgtctggagcatgggtgtg	12	8	14	7	1	1	1	0	1	1	0	1	3	1	2	1	3	2	2	1	3	4	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:32829624G>T	ENST00000373534.3	+	2	1079	c.574G>T	c.(574-576)Gat>Tat	p.D192Y	FAM229A_ENST00000415596.1_Intron|FAM229A_ENST00000432622.1_5'Flank	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				CAAAAAAGGTGATGTCTGGAG	0.582																																					p.D192Y													.	TSSK3	22		0			c.G574T												168	140	149					1																	32829624		2203	4300	6503	SO:0001583	missense	81629	exon2			AAAGGTGATGTCT	AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"serine/threonine kinase 22C (spermiogenesis associated)"	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.574G>T	1.37:g.32829624G>T	ENSP00000362634:p.Asp192Tyr		157	0.0127388535	2		245	0.03	7	NM_052841	7	0	0	Q5TEE5	Missense_Mutation	SNP	ENST00000373534.3	37	CCDS362.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505696	0.64410	.	.	ENSG00000162526	ENST00000373534	T	0.75704	-0.96	5.64	4.67	0.58626	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	D	0.91915	0.7440	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94509	0.7717	10	0.87932	D	0	.	15.1475	0.72667	0.0:0.1416:0.8584:0.0	.	192	Q96PN8	TSSK3_HUMAN	Y	192	ENSP00000362634:D192Y	ENSP00000362634:D192Y	D	+	1	0	TSSK3	32602211	1.000000	0.71417	0.888000	0.34837	0.880000	0.50808	7.894000	0.87336	2.832000	0.97577	0.655000	0.94253	GAT			0.582	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000020049.1				T	32829624	G	T	32829624	3	4	96	1	0	0	0	0	1	0	0	0	16694	1290	45	3	580	3	TSSK3	1	32829624	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	205750	32829624	216420997	14	6799											
YARS	8565	broad.mit.edu	37	chr1	33241605	33241605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaatgttcccccctttcaGcgatttacaggaaatggagc	10	11	9	11	1	1	0	1	0	0	0	2	3	2	2	3	2	3	2	3	2	3	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:33241605G>T	ENST00000373477.4	-	13	2472	c.1564C>A	c.(1564-1566)Ctg>Atg	p.L522M	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	522					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCCCCTTTCAGCGATTTACAG	0.512																																					p.L522M													.	YARS	34		0			c.C1564A												132	119	123					1																	33241605		2203	4300	6503	SO:0001583	missense	8565	exon13			CTTTCAGCGATTT	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1564C>A	1.37:g.33241605G>T	ENSP00000362576:p.Leu522Met		144	0	0		233	0.02	4	NM_003680	1759	0	0	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229451	0.95173	.	.	ENSG00000134684	ENST00000373477	T	0.78364	-1.17	5.85	5.85	0.93711	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	M	0.69248	2.105	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	D	0.87302	0.2306	10	0.87932	D	0	-9.4521	20.5471	0.99284	0.0:0.0:1.0:0.0	.	522	P54577	SYYC_HUMAN	M	522	ENSP00000362576:L522M	ENSP00000362576:L522M	L	-	1	2	YARS	33014192	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	6.734000	0.74801	2.941000	0.99782	0.655000	0.94253	CTG			0.512	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011225.1		NM_003680		T	33241605	G	T	33241605	3	4	96	1	0	0	0	0	1	0	0	0	17491	962	34	2	26	2	YARS	1	33241605	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	411981	33241605	216009016	15	6800											
ZMYM1	79830	broad.mit.edu	37	chr1	35579584	35579584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatggccaggcctatgataGcaccactaatttgaagataa	15	9	8	9	0	0	3	0	2	0	1	0	3	0	3	3	2	1	1	3	2	5	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:35579584G>T	ENST00000373330.1	+	11	2327	c.2153G>T	c.(2152-2154)aGc>aTc	p.S718I	ZMYM1_ENST00000359858.4_Missense_Mutation_p.S718I|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	718						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)				GCCTATGATAGCACCACTAAT	0.353																																					p.S718I													.	ZMYM1	86		0			c.G2153T												62	60	61					1																	35579584		1820	4085	5905	SO:0001583	missense	79830	exon10			ATGATAGCACCAC	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.2153G>T	1.37:g.35579584G>T	ENSP00000362427:p.Ser718Ile		370	0.0027027027	1		664	0.01	6	NM_024772	23	0	0	D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	9.753	1.168073	0.21621	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.23950	1.88;1.88;1.88	4.24	4.24	0.50183	Ribonuclease H-like (1);	0.119478	0.38381	N	0.001705	T	0.42040	0.1185	L	0.57536	1.79	0.29091	N	0.882099	D;D	0.71674	0.997;0.998	D;D	0.83275	0.996;0.959	T	0.20306	-1.0279	9	.	.	.	-15.6249	8.2174	0.31521	0.1054:0.0:0.8946:0.0	.	699;718	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	I	718;643;718	ENSP00000352920:S718I;ENSP00000362426:S643I;ENSP00000362427:S718I	.	S	+	2	0	ZMYM1	35352171	0.909000	0.30893	0.936000	0.37596	0.005000	0.04900	1.366000	0.34193	2.647000	0.89833	0.557000	0.71058	AGC			0.353	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012705.1		NM_024772		T	35579584	G	T	35579584	3	4	96	1	0	0	0	0	1	0	0	0	17722	971	34	2	2187	2	ZMYM1	1	35579584	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2337979	35579584	213671037	16	6801											
KIAA0319L	79932	broad.mit.edu	37	chr1	35944611	35944611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagaggcctggggggtaGgggtagcataactgtaggag	11	6	20	4	0	0	1	0	0	0	1	0	3	0	3	1	8	2	4	1	8	5	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:35944611G>T	ENST00000325722.3	-	4	1103	c.869C>A	c.(868-870)cCt>cAt	p.P290H		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	290						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)				CTGGGGGGTAGGGGTAGCATA	0.498																																					p.P290H													.	KIAA0319L	156		0			c.C869A												81	86	84					1																	35944611		2203	4300	6503	SO:0001583	missense	79932	exon4			GGGGTAGGGGTAG	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.869C>A	1.37:g.35944611G>T	ENSP00000318406:p.Pro290His		114	0	0		222	0.02	4	NM_024874	5	0	0	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301170	0.23650	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258	T;T;T;T	0.37752	3.14;3.09;2.53;1.18	5.65	3.72	0.42706	Fibronectin, type III (1);	0.326366	0.26638	N	0.023266	T	0.41673	0.1169	L	0.32530	0.975	0.19775	N	0.999952	D;D;D	0.71674	0.998;0.994;0.994	D;P;P	0.63877	0.919;0.751;0.819	T	0.14924	-1.0455	10	0.49607	T	0.09	-0.1942	7.6425	0.28303	0.2042:0.0:0.7958:0.0	.	290;290;290	B4DYG9;B1AN14;Q8IZA0	.;.;K319L_HUMAN	H	290	ENSP00000318406:P290H;ENSP00000395883:P290H;ENSP00000407576:P290H;ENSP00000362355:P290H	ENSP00000318406:P290H	P	-	2	0	KIAA0319L	35717198	0.994000	0.37717	0.045000	0.18777	0.006000	0.05464	3.118000	0.50414	0.683000	0.31428	-0.142000	0.14014	CCT			0.498	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012684.2		NM_024874		T	35944611	G	T	35944611	3	4	96	1	0	0	0	0	1	0	0	0	8184	1000	35	3	2352	3	KIAA0319L	1	35944611	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	365027	35944611	213306010	17	6802											
DNALI1	7802	broad.mit.edu	37	chr1	38027269	38027269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccagaccctgtacgagaGcagcgtggcgtttggcatga	9	8	13	11	3	0	3	0	1	0	2	0	4	0	3	2	2	4	4	2	2	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:38027269G>T	ENST00000296218.7	+	4	585	c.575G>T	c.(574-576)aGc>aTc	p.S192I	DNALI1_ENST00000541606.1_Missense_Mutation_p.S44I|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	170					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGTACGAGAGCAGCGTGGCG	0.612											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S192I													.	DNALI1	25		0			c.G575T												143	95	111					1																	38027269		2203	4300	6503	SO:0001583	missense	7802	exon4			ACGAGAGCAGCGT	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.575G>T	1.37:g.38027269G>T	ENSP00000296218:p.Ser192Ile		142	0	0	875	249	0.02	4	NM_003462	58	0	0	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	CCDS420.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302677	0.95601	.	.	ENSG00000163879	ENST00000296218;ENST00000541606	T	0.56275	0.47	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88058	0.2792	10	0.87932	D	0	-11.0353	19.1061	0.93296	0.0:0.0:1.0:0.0	.	170	O14645	IDLC_HUMAN	I	192;44	ENSP00000296218:S192I	ENSP00000296218:S192I	S	+	2	0	DNALI1	37799856	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.785000	0.99042	2.574000	0.86865	0.655000	0.94253	AGC			0.612	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012159.1		NM_003462		T	38027269	G	T	38027269	3	4	96	1	0	0	0	0	1	0	0	0	4664	971	34	2	589	2	DNALI1	1	38027269	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2082658	38027269	211223352	18	6803											
FHL3	2275	broad.mit.edu	37	chr1	38465022	38465022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaggggccgctgtctgtCtggatgtacttgcgtccata	6	12	13	10	2	2	0	0	0	2	0	3	1	3	1	2	3	2	3	2	3	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:38465022C>A	ENST00000373016.3	-	2	231	c.63G>T	c.(61-63)caG>caT	p.Q21H	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	21					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)				CGCTGTCTGTCTGGATGTACT	0.537																																					p.Q21H													.	FHL3	9		0			c.G63T												107	95	99					1																	38465022		2203	4300	6503	SO:0001583	missense	2275	exon2			GTCTGTCTGGATG	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.63G>T	1.37:g.38465022C>A	ENSP00000362107:p.Gln21His		143	0	0		225	0.01	3	NM_004468	63	0	0	D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130220	0.77549	.	.	ENSG00000183386	ENST00000373016	D	0.87029	-2.2	5.77	5.77	0.91146	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	D	0.93363	0.7884	M	0.81497	2.545	0.58432	D	0.999996	D;D	0.64830	0.994;0.991	P;P	0.62813	0.907;0.818	D	0.92497	0.6005	10	0.45353	T	0.12	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	21;21	Q9P100;Q13643	.;FHL3_HUMAN	H	21	ENSP00000362107:Q21H	ENSP00000362107:Q21H	Q	-	3	2	FHL3	38237609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.067000	0.50010	2.744000	0.94065	0.561000	0.74099	CAG			0.537	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012958.1		NM_004468		A	38465022	C	A	38465022	3	1	96	1	0	0	0	0	1	0	0	0	5893	912	32	3	799	3	FHL3	1	38465022	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	437753	38465022	210785599	19	6804											
MACF1	23499	broad.mit.edu	37	chr1	39852903	39852903	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcttgccagcacccagCagttccagcaaatgtttgat	10	10	8	13	0	1	1	0	1	1	0	2	1	2	1	3	0	5	6	3	0	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:39852903C>T	ENST00000372915.3	+	57	14491	c.14404C>T	c.(14404-14406)Cag>Tag	p.Q4802*	MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q2735*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q2714*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q2735*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q3237*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4834*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.Q4797*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q2735*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4802					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)			CAGCACCCAGCAGTTCCAGCA	0.428																																					p.Q2735X													.	MACF1	909		0			c.C8203T												134	150	145					1																	39852903		2203	4300	6503	SO:0001587	stop_gained	23499	exon54			ACCCAGCAGTTCC	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.14404C>T	1.37:g.39852903C>T	ENSP00000362006:p.Gln4802*		147	0	0		240	0.02	4	NM_012090	4	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.739742|11.739742	0.99597|0.99597	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.56097	.|D	.|0.000022	T|.	0.82231|.	0.4992|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82382|.	-0.0485|.	4|.	.|0.66056	.|D	.|0.02	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	1847|2735;4802;2735;2735;2714;3237	.|.	.|ENSP00000289893:Q3237X	A|Q	+|+	2|1	0|0	MACF1|MACF1	39625490|39625490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCA|CAG			0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding		OTTHUMT00000392096.1		NM_033044		T	39852903	C	T	39852903	4	4	96	1	0	0	0	0	0	1	0	0	9160	711	25	2	14564	2	MACF1	1	39852903	Nonsense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1387881	39852903	209397718	20	6805											
OXCT2	64064	broad.mit.edu	37	chr1	40235515	40235515	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcacgtcaaacacGgccttctcggtgatgatgcg	7	11	11	12	4	2	2	1	2	1	0	4	2	3	2	2	2	3	1	2	2	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:40235515G>T	ENST00000327582.5	-	1	1505	c.1413C>A	c.(1411-1413)gcC>gcA	p.A471A	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	471					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CGTCAAACACGGCCTTCTCGG	0.587																																					p.A471A													.	OXCT2	12		0			c.C1413A												69	66	67					1																	40235515		2203	4300	6503	SO:0001819	synonymous_variant	64064	exon1			AAACACGGCCTTC	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1413C>A	1.37:g.40235515G>T			464	0	0		969	0.01	8	NM_022120	32	0	0	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Silent	SNP	ENST00000327582.5	37	CCDS445.1																																																																																					0.587	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025656.1		NM_022120		T	40235515	G	T	40235515	2	4	96	1	0	0	0	0	0	0	0	1	11347	1103	39	1		1	OXCT2	1	40235515	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	382612	40235515	209015106	21	6806											
RIMS3	9783	broad.mit.edu	37	chr1	41094487	41094487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtgacacccacctgcaGcaccttgccctggggtccct	5	8	9	19	0	0	1	0	1	0	0	1	1	1	1	6	2	3	2	6	2	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:41094487G>T	ENST00000372684.3	-	7	1178	c.709C>A	c.(709-711)Ctg>Atg	p.L237M	RIMS3_ENST00000372683.1_Missense_Mutation_p.L237M	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	237	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			CCCACCTGCAGCACCTTGCCC	0.522																																					p.L237M													.	RIMS3	44		0			c.C709A												118	110	113					1																	41094487		2203	4300	6503	SO:0001583	missense	9783	exon7			CCTGCAGCACCTT	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.709C>A	1.37:g.41094487G>T	ENSP00000361769:p.Leu237Met		100	0	0		203	0.02	5	NM_014747	11	0	0	D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314789	0.60524	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	D;D	0.88431	-2.38;-2.38	4.92	2.89	0.33648	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94653	0.8276	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93310	0.6684	10	0.87932	D	0	-13.48	5.3487	0.16024	0.3214:0.0:0.6786:0.0	.	237	Q9UJD0	RIMS3_HUMAN	M	237	ENSP00000361769:L237M;ENSP00000361768:L237M	ENSP00000361768:L237M	L	-	1	2	RIMS3	40867074	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.937000	0.40193	1.288000	0.44600	0.491000	0.48974	CTG			0.522	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019585.1		NM_014747		T	41094487	G	T	41094487	3	4	96	1	0	0	0	0	1	0	0	0	13392	962	34	2	225	2	RIMS3	1	41094487	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	858972	41094487	208156134	22	6807											
C1orf84	23334	broad.mit.edu	37	chr1	43868912	43868912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatctcccgaaatgttcGcctggcttggttcctcagtc	6	13	9	13	3	2	0	1	0	1	0	7	2	3	0	3	2	0	3	3	2	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:43868912G>A	ENST00000562955.1	+	2	92	c.92G>A	c.(91-93)cGc>cAc	p.R31H	SZT2_ENST00000310739.4_Missense_Mutation_p.R31H|SZT2_ENST00000372450.4_Missense_Mutation_p.R31H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	31					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGAAATGTTCGCCTGGCTTGG	0.493																																					p.R31H													SZT2_ENST00000562955,NS,carcinoma,+1,4	SZT2	383	4	0			c.G92A												103	97	99					1																	43868912		2203	4300	6503	SO:0001583	missense	23334	exon2			ATGTTCGCCTGGC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.92G>A	1.37:g.43868912G>A	ENSP00000457168:p.Arg31His		146	0	0		263	0.02	4	NM_015284	3	0	0	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	35	5.579148	0.96565	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	T	0.78155	0.4239	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.78907	-0.2019	8	0.87932	D	0	.	19.8786	0.96886	0.0:0.0:1.0:0.0	.	31;31	Q5T011-4;Q5T011-7	.;.	H	31	.	ENSP00000312234:R31H	R	+	2	0	AL139289.1	43641499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.995000	0.93534	2.693000	0.91896	0.655000	0.94253	CGC			0.493	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019517.3		NM_015284		A	43868912	G	A	43868912	3	1	96	1	0	0	0	0	1	0	0	0	2063	1087	38	1	98	1	C1orf84	1	43868912	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2774425	43868912	205381709	23	6808											
ATP6V0B	533	broad.mit.edu	37	chr1	44442294	44442294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaggctgtggccatctacgGcatcatcatggcaattgtca	9	11	11	10	1	4	1	3	1	1	0	4	1	4	1	1	4	1	3	1	4	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:44442294G>T	ENST00000472174.2	+	5	704	c.311G>T	c.(310-312)gGc>gTc	p.G104V	B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000532642.1_Missense_Mutation_p.G104V|ATP6V0B_ENST00000498664.1_Missense_Mutation_p.G57V|ATP6V0B_ENST00000236067.4_Missense_Mutation_p.G57V|ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000471859.2_Missense_Mutation_p.G151V|B4GALT2_ENST00000434555.2_5'Flank	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	104					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)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCATCTACGGCATCATCATG	0.483																																					p.G104V													.	ATP6V0B	22		0			c.G311T												114	104	107					1																	44442294		2203	4300	6503	SO:0001583	missense	533	exon5			TCTACGGCATCAT	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"ATPases / V-type"	861	protein-coding gene	gene with protein product		603717	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD", "ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.311G>T	1.37:g.44442294G>T	ENSP00000431605:p.Gly104Val		164	0	0		259	0.02	4	NM_004047	1048	0	0	D3DPY5|Q6IB32	Missense_Mutation	SNP	ENST00000472174.2	37	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439346	0.83885	.	.	ENSG00000117410	ENST00000472505;ENST00000472174;ENST00000532642;ENST00000236067;ENST00000471859;ENST00000498664	T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14	4.97	3.01	0.34805	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85958	0.1468	10	0.87932	D	0	-8.4143	9.6656	0.39983	0.0746:0.0:0.7852:0.1403	.	104;104	Q99437;E9PNL3	VATO_HUMAN;.	V	57;104;104;57;151;57	ENSP00000432994:G57V;ENSP00000431605:G104V;ENSP00000434729:G104V;ENSP00000236067:G57V;ENSP00000432754:G151V;ENSP00000434094:G57V	ENSP00000236067:G57V	G	+	2	0	ATP6V0B	44214881	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	9.214000	0.95140	1.083000	0.41159	0.561000	0.74099	GGC			0.483	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022854.2		NM_004047		T	44442294	G	T	44442294	3	4	96	1	0	0	0	0	1	0	0	0	1171	1203	42	2	329	2	ATP6V0B	1	44442294	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	573382	44442294	204808327	24	6809											
BEST4	266675	broad.mit.edu	37	chr1	45250928	45250928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggctccacaaactggCggccaaccagggagagggca	10	4	13	14	1	1	1	0	0	1	1	2	2	2	1	4	5	2	2	4	5	2	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:45250928C>T	ENST00000372207.3	-	6	763	c.764G>A	c.(763-765)cGc>cAc	p.R255H		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	255						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)					CACAAACTGGCGGCCAACCAG	0.612																																					p.R255H													BEST4,colon,carcinoma,0,1	BEST4	20	1	0			c.G764A												32	41	38					1																	45250928		2203	4299	6502	SO:0001583	missense	266675	exon6			AACTGGCGGCCAA	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.764G>A	1.37:g.45250928C>T	ENSP00000361281:p.Arg255His		378	0	0		687	0.01	8	NM_153274	3	0	0	Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	37	CCDS514.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361938	0.82353	.	.	ENSG00000142959	ENST00000372207	D	0.98889	-5.21	5.07	3.16	0.36331	.	0.060871	0.64402	N	0.000003	D	0.98887	0.9623	M	0.84683	2.71	0.48185	D	0.999605	D	0.76494	0.999	D	0.71414	0.973	D	0.98808	1.0742	10	0.49607	T	0.09	-21.7702	10.6044	0.45386	0.0:0.8381:0.0:0.1619	.	255	Q8NFU0	BEST4_HUMAN	H	255	ENSP00000361281:R255H	ENSP00000361281:R255H	R	-	2	0	BEST4	45023515	0.948000	0.32251	1.000000	0.80357	0.991000	0.79684	2.071000	0.41500	1.368000	0.46115	0.655000	0.94253	CGC			0.612	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023425.1		NM_153274		T	45250928	C	T	45250928	3	4	96	1	0	0	0	0	1	0	0	0	1407	768	27	1	673	1	BEST4	1	45250928	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	808634	45250928	203999693	25	6810											
PTCH2	8643	broad.mit.edu	37	chr1	45294672	45294672	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggagaggggtgccaggCagagcctctgtgaaggcatg	9	6	17	9	0	1	3	0	1	1	2	1	4	1	3	3	5	2	2	3	5	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:45294672C>A	ENST00000372192.3	-	11	1576	c.1446G>T	c.(1444-1446)ctG>ctT	p.L482L	PTCH2_ENST00000447098.2_Silent_p.L482L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	482	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGTGCCAGGCAGAGCCTCTG	0.622									Basal Cell Nevus syndrome																												p.L482L													.	PTCH2	96		0			c.G1446T												27	22	24					1																	45294672		2182	4272	6454	SO:0001819	synonymous_variant	8643	exon11	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	GCCAGGCAGAGCC	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1446G>T	1.37:g.45294672C>A			159	0.0125786164	2		240	0.02	5	NM_003738	46	0	0	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	CCDS516.1																																																																																					0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000023428.4		NM_003738		A	45294672	C	A	45294672	2	1	96	1	0	0	0	0	0	0	0	1	12751	697	25	2		2	PTCH2	1	45294672	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	43744	45294672	203955949	26	6811											
MUTYH	4595	broad.mit.edu	37	chr1	45796995	45796995	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcttgatgtgagagaaGgtgtggacaacctggaggaa	12	8	16	5	0	1	3	1	2	0	1	1	7	1	6	1	4	2	1	1	4	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:45796995G>T	ENST00000372098.3	-	14	1459	c.1326C>A	c.(1324-1326)acC>acA	p.T442T	MUTYH_ENST00000372100.5_Silent_p.T428T|MUTYH_ENST00000456914.2_Silent_p.T417T|MUTYH_ENST00000528332.2_Silent_p.T126T|MUTYH_ENST00000529984.1_Silent_p.T112T|MUTYH_ENST00000355498.2_Silent_p.T417T|MUTYH_ENST00000372110.3_Silent_p.T432T|MUTYH_ENST00000372115.3_Silent_p.T431T|MUTYH_ENST00000448481.1_Silent_p.T428T|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000354383.6_Silent_p.T418T|MUTYH_ENST00000528013.2_Silent_p.T431T|MUTYH_ENST00000488731.2_Silent_p.T112T|MUTYH_ENST00000450313.1_Silent_p.T445T|MUTYH_ENST00000372104.1_Silent_p.T417T			Q9UIF7	MUTYH_HUMAN	mutY homolog	442	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGTGAGAGAAGGTGTGGACAA	0.547			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.T445T			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	MUTYH	38		0			c.C1335A												87	84	85					1																	45796995		2203	4300	6503	SO:0001819	synonymous_variant	4595	exon14	Familial Cancer Database	MAP, MYH-associated polyposis	AGAGAAGGTGTGG	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1326C>A	1.37:g.45796995G>T			111	0	0		214	0.01	3	NM_001128425	202	0	0	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	CCDS520.1	.	.	.	.	.	.	.	.	.	.	G	2.235	-0.375139	0.05034	.	.	ENSG00000132781	ENST00000529892	.	.	.	5.16	1.08	0.20341	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22312	-1.0220	4	.	.	.	-2.8215	2.0555	0.03580	0.2793:0.1211:0.4753:0.1243	.	.	.	.	H	109	.	.	P	-	2	0	MUTYH	45569582	0.940000	0.31905	0.815000	0.32552	0.768000	0.43524	0.722000	0.25925	0.192000	0.20272	-0.136000	0.14681	CCT			0.547	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000020529.1		NM_012222		T	45796995	G	T	45796995	2	4	96	1	0	0	0	0	0	0	0	1	10009	987	35	3		3	MUTYH	1	45796995	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	502323	45796995	203453626	27	6812											
KIAA0494	9813	broad.mit.edu	37	chr1	47154204	47154204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctaaagagttgtgaaGgtacaggatatcctagagtg	12	11	11	7	0	1	3	0	1	1	2	3	4	3	4	2	2	1	2	2	2	6	5	rs542845933		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:47154204G>T	ENST00000371933.3	-	7	1784	c.808C>A	c.(808-810)Ctt>Att	p.L270I	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000484461.1_5'UTR|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	270							calcium ion binding (GO:0005509)										GAGTTGTGAAGGTACAGGATA	0.418																																					p.L270I													.	.			0			c.C808A												95	80	85					1																	47154204		2203	4300	6503	SO:0001583	missense	9813	exon7			TGTGAAGGTACAG	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.808C>A	1.37:g.47154204G>T	ENSP00000361001:p.Leu270Ile		164	0	0		273	0.01	4	NM_014774	13	0	0	D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699892	0.48307	.	.	ENSG00000159658	ENST00000371933	T	0.54071	0.59	5.3	4.36	0.52297	.	0.127808	0.53938	N	0.000048	T	0.50854	0.1640	M	0.63843	1.955	0.80722	D	1	B	0.22414	0.069	B	0.25759	0.063	T	0.49624	-0.8920	10	0.37606	T	0.19	0.3797	13.552	0.61738	0.0:0.0:0.8444:0.1556	.	270	O75071	K0494_HUMAN	I	270	ENSP00000361001:L270I	ENSP00000361001:L270I	L	-	1	0	KIAA0494	46926791	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.553000	0.45837	1.409000	0.46915	0.561000	0.74099	CTT			0.418	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021931.1		NM_014774		T	47154204	G	T	47154204	3	4	96	1	0	0	0	0	1	0	0	0	8194	1000	35	3	699	3	KIAA0494	1	47154204	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1357209	47154204	202096417	28	6813											
CDCP2	200008	broad.mit.edu	37	chr1	54605300	54605300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagccaatggagaaggaGctggagaagaccattcatgg	13	7	15	6	0	1	3	1	0	0	3	1	6	1	4	2	4	2	2	2	4	4	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:54605300G>T	ENST00000371330.1	-	4	2090	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	CDCP2_ENST00000530059.1_Intron|RP11-446E24.4_ENST00000525949.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	415						extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TGGAGAAGGAGCTGGAGAAGA	0.592																																					p.L415I													.	CDCP2	52		0			c.C1243A												55	54	54					1																	54605300		2203	4300	6503	SO:0001583	missense	200008	exon4			GAAGGAGCTGGAG		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1243C>A	1.37:g.54605300G>T	ENSP00000360381:p.Leu415Ile		192	0.0052083333	1		261	0.02	5	NM_201546	0		0	Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	G	7.389	0.630362	0.14322	.	.	ENSG00000157211	ENST00000371330	T	0.37915	1.17	4.2	-8.4	0.00965	.	1.825990	0.03220	N	0.177421	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.16600	-1.0397	10	0.23891	T	0.37	1.5549	0.5631	0.00683	0.2103:0.2543:0.2622:0.2733	.	415	Q5VXM1	CDCP2_HUMAN	I	415	ENSP00000360381:L415I	ENSP00000360381:L415I	L	-	1	0	CDCP2	54377888	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.354000	0.02614	-3.156000	0.00229	-0.752000	0.03492	CTC			0.592	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000022209.2		NM_201546		T	54605300	G	T	54605300	3	4	96	1	0	0	0	0	1	0	0	0	3096	971	34	2	110	2	CDCP2	1	54605300	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7451096	54605300	194645321	29	6814											
INADL	10207	broad.mit.edu	37	chr1	62261198	62261198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgcgtaccacaatGgccacattcaagtgaatgac	12	8	10	11	1	1	2	1	2	0	0	1	2	1	2	2	1	3	3	2	1	4	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:62261198G>T	ENST00000371158.2	+	10	1342	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	INADL_ENST00000316485.6_Missense_Mutation_p.G410C	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	410	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						GTACCACAATGGCCACATTCA	0.368																																					p.G410C													.	INADL	179		0			c.G1228T												125	108	114					1																	62261198		2203	4300	6503	SO:0001583	missense	10207	exon10			CACAATGGCCACA	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.1228G>T	1.37:g.62261198G>T	ENSP00000360200:p.Gly410Cys		165	0	0		214	0.02	5	NM_176877	10	0	0	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833151	0.71258	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.37058	1.22;1.22	5.29	5.29	0.74685	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.78059	0.4224	H	0.99336	4.52	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	0.87482	0.2421	10	0.87932	D	0	.	19.1314	0.93408	0.0:0.0:1.0:0.0	.	410;410;410	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	C	410	ENSP00000360200:G410C;ENSP00000326199:G410C	ENSP00000255202:G410C	G	+	1	0	INADL	62033786	1.000000	0.71417	0.986000	0.45419	0.674000	0.39518	7.951000	0.87819	2.751000	0.94390	0.650000	0.86243	GGC			0.368	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023639.2		NM_170605		T	62261198	G	T	62261198	3	4	96	1	0	0	0	0	1	0	0	0	7746	1348	47	3	1262	3	INADL	1	62261198	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7655898	62261198	186989423	30	6815											
LRRC40	55631	broad.mit.edu	37	chr1	70650540	70650540	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcattatgctggagatacagGcacttcaggtttcttaggtt	9	15	10	7	0	3	1	2	0	1	1	3	2	3	1	0	4	2	4	0	4	3	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:70650540G>T	ENST00000370952.3	-	4	544	c.465C>A	c.(463-465)tgC>tgA	p.C155*		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	155						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GGAGATACAGGCACTTCAGGT	0.308																																					p.C155X													.	LRRC40	66		0			c.C465A												155	155	155					1																	70650540		2202	4300	6502	SO:0001587	stop_gained	55631	exon4			ATACAGGCACTTC		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.465C>A	1.37:g.70650540G>T	ENSP00000359990:p.Cys155*		179	0	0		226	0.02	4	NM_017768	24	0	0	Q9BTR7|Q9NSK1|Q9NXC1	Nonsense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901985	0.72754	.	.	ENSG00000066557	ENST00000370952	.	.	.	5.98	-0.66	0.11421	.	0.564075	0.22199	N	0.063276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	3.5717	0.07920	0.1817:0.3181:0.3957:0.1044	.	.	.	.	X	155	.	ENSP00000359990:C155X	C	-	3	2	LRRC40	70423128	0.327000	0.24678	0.005000	0.12908	0.751000	0.42716	0.251000	0.18257	-0.366000	0.08064	0.655000	0.94253	TGC			0.308	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025914.1		NM_017768		T	70650540	G	T	70650540	4	4	96	1	0	0	0	0	0	1	0	0	9014	1195	42	2	1391	2	LRRC40	1	70650540	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8389342	70650540	178600081	31	6816											
USP33	23032	broad.mit.edu	37	chr1	78194095	78194096	+	Frame_Shift_Ins	INS	-	-	T																															cagaatttactttattaatcINSttattgcacatcttctcttt																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:78194095_78194096insT	ENST00000370793.1	-	11	1458_1459	c.1112_1113insA	c.(1111-1113)aagfs	p.K371fs	USP33_ENST00000370792.3_Frame_Shift_Ins_p.K371fs|USP33_ENST00000370794.3_Frame_Shift_Ins_p.K340fs|USP33_ENST00000357428.1_Frame_Shift_Ins_p.K371fs	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	371	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|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)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	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)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTTTATTAATCTTATTGCACAT	0.312																																					p.K371fs	Melanoma(152;72 1870 11110 26780 42647)												.	USP33	87		0			c.1113_1114insA																																									SO:0001589	frameshift_variant	23032	exon11			ATTAATCTTATTG	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1113dupA	1.37:g.78194097_78194097dupT	ENSP00000359829:p.Lys371fs		155	0	0		263	0.02	6	NM_201626	34	0	0	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Frame_Shift_Ins	INS	ENST00000370793.1	37	CCDS678.1																																																																																					0.312	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000026923.2		NM_015017		T	78194096	-	T	78194095	7	5	96	1	0	1	1	0	0	0	0	0	17088	912	32	0	1787	0	USP33	1	78194095	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	7543555	78194095	171056526	32	6817											
PKN2	5586	broad.mit.edu	37	chr1	89270133	89270134	+	Frame_Shift_Ins	INS	-	-	T																															ggtctctgtgtgctgtaaaaINStttctgaggttagaagattt																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:89270133_89270134insT	ENST00000370521.3	+	9	1700_1701	c.1341_1342insT	c.(1342-1344)tttfs	p.F448fs	PKN2_ENST00000370505.3_Frame_Shift_Ins_p.F291fs|PKN2_ENST00000316005.7_Frame_Shift_Ins_p.F448fs|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000544045.1_Frame_Shift_Ins_p.F122fs	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	448	C2.|Necessary to rescue apical junction formation. {ECO:0000250}.				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)		GTGCTGTAAAATTTCTGAGGTT	0.347																																					p.K447fs													.	PKN2	109		0			c.1341_1342insT																																									SO:0001589	frameshift_variant	5586	exon9			TGTAAAATTTCTG	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.1344dupT	1.37:g.89270136_89270136dupT	ENSP00000359552:p.Phe448fs		218	0	0		325	0.02	7	NM_006256	8	0	0	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Frame_Shift_Ins	INS	ENST00000370521.3	37	CCDS714.1																																																																																					0.347	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027828.3		NM_006256		T	89270134	-	T	89270133	7	5	96	1	0	1	1	0	0	0	0	0	11997	98	4	0	1375	0	PKN2	1	89270133	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	11076038	89270133	159980488	33	6818											
GBP2	2634	broad.mit.edu	37	chr1	89579899	89579900	+	Frame_Shift_Ins	INS	-	-	G																															gagttctctatctgggccaaINSggccaggactgcgttctcca																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:89579899_89579900insG	ENST00000370466.3	-	7	1216_1217	c.948_949insC	c.(946-951)gccttgfs	p.AL316fs	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	316					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)		ATCTGGGCCAAGGCCAGGACTG	0.545																																					p.L317fs													GBP2,NS,malignant_melanoma,+1,1	GBP2	58	1	0			c.949_950insC																																									SO:0001589	frameshift_variant	2634	exon7			GGGCCAAGGCCAG	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.949dupC	1.37:g.89579901_89579901dupG	ENSP00000359497:p.Ala316fs		298	0	0		429	0.02	7	NM_004120	19	0	0	Q6GPH0|Q6IAU2|Q86TB0	Frame_Shift_Ins	INS	ENST00000370466.3	37	CCDS719.1																																																																																					0.545	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000029406.2		NM_004120		G	89579900	-	G	89579899	7	5	96	1	0	1	1	0	0	0	0	0	6288	69	3	0	846	0	GBP2	1	89579899	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	309766	89579899	159670722	34	6819											
PRPF38B	55119	broad.mit.edu	37	chr1	109238796	109238796	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactctccatatattagagcGcttggatttatgtatataag	12	15	8	6	1	1	1	0	0	1	1	2	3	1	2	1	1	1	2	1	1	7	9			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:109238796G>T	ENST00000370025.4	+	3	746	c.477G>T	c.(475-477)gcG>gcT	p.A159A	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Silent_p.A159A|PRPF38B_ENST00000370021.1_Silent_p.A48A	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	159					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)		ATATTAGAGCGCTTGGATTTA	0.318																																					p.A159A													.	PRPF38B	55		0			c.G477T												111	110	110					1																	109238796		2203	4300	6503	SO:0001819	synonymous_variant	55119	exon3			TAGAGCGCTTGGA	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.477G>T	1.37:g.109238796G>T			290	0.0034482759	1		403	0.02	10	NM_018061	51	0	0	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	ENST00000370025.4	37	CCDS788.1																																																																																					0.318	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030231.1		NM_018061		T	109238796	G	T	109238796	2	4	96	1	0	0	0	0	0	0	0	1	12588	1074	38	1		1	PRPF38B	1	109238796	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	19658897	109238796	140011825	35	6820											
STXBP3	6814	broad.mit.edu	37	chr1	109350028	109350028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaattactttttagtgctcGccagaaacccagagctaatt	13	13	6	9	1	0	2	0	0	0	2	1	2	0	2	2	0	4	2	2	0	6	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:109350028G>T	ENST00000370008.3	+	18	1591	c.1541G>T	c.(1540-1542)cGc>cTc	p.R514L		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	514					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTAGTGCTCGCCAGAAACCC	0.338																																					p.R514L													.	STXBP3	44		0			c.G1541T												52	53	52					1																	109350028		2203	4300	6503	SO:0001583	missense	6814	exon18			GTGCTCGCCAGAA	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1541G>T	1.37:g.109350028G>T	ENSP00000359025:p.Arg514Leu		129	0.007751938	1		239	0.01	3	NM_007269	94	0	0	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738977	0.69304	.	.	ENSG00000116266	ENST00000370008	T	0.81247	-1.47	5.84	4.92	0.64577	.	0.047818	0.85682	D	0.000000	D	0.88314	0.6403	M	0.86864	2.845	0.58432	D	0.999994	D	0.76494	0.999	D	0.67900	0.954	D	0.87814	0.2633	10	0.44086	T	0.13	-1.7615	15.0319	0.71713	0.07:0.0:0.93:0.0	.	514	O00186	STXB3_HUMAN	L	514	ENSP00000359025:R514L	ENSP00000359025:R514L	R	+	2	0	STXBP3	109151551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.710000	0.91388	2.764000	0.94973	0.650000	0.86243	CGC			0.338	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030591.1		NM_007269		T	109350028	G	T	109350028	3	4	96	1	0	0	0	0	1	0	0	0	15377	1087	38	1	1611	1	STXBP3	1	109350028	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	111232	109350028	139900593	36	6821											
AKNAD1	254268	broad.mit.edu	37	chr1	109377673	109377673	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggccggggtgctccttGggaatctgggggagccacac	5	7	19	10	1	1	0	0	0	1	0	2	2	2	2	3	7	2	1	3	7	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:109377673G>T	ENST00000370001.3	-	8	1810	c.1542C>A	c.(1540-1542)ccC>ccA	p.P514P	AKNAD1_ENST00000369994.1_Intron|AKNAD1_ENST00000357393.4_Silent_p.P221P|AKNAD1_ENST00000369995.3_Silent_p.P514P	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	514						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						GGTGCTCCTTGGGAATCTGGG	0.607																																					p.P514P													.	AKNAD1	83		0			c.C1542A												27	30	29					1																	109377673		2203	4299	6502	SO:0001819	synonymous_variant	254268	exon8			CTCCTTGGGAATC	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.1542C>A	1.37:g.109377673G>T			208	0	0		296	0.01	4	NM_152763	0		0	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	ENST00000370001.3	37	CCDS791.2																																																																																					0.607	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030923.2		NM_152763		T	109377673	G	T	109377673	2	4	96	1	0	0	0	0	0	0	0	1	464	1335	47	3		3	AKNAD1	1	109377673	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	27645	109377673	139872948	37	6822											
KCNC4	3749	hgsc.bcm.edu	37	chr1	110768693	110768694	+	Frame_Shift_Ins	INS	-	-	C																															tccccgacccccgaggagcgINSccgggccctgcgacgctcca																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:110768693_110768694insC	ENST00000369787.3	+	3	1739_1740	c.1712_1713insC	c.(1711-1716)cgccggfs	p.R572fs	KCNC4_ENST00000413138.3_Frame_Shift_Ins_p.R572fs|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Frame_Shift_Ins_p.R572fs	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	572					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)		CCCGAGGAGCGCCGGGCCCTGC	0.639																																					p.R571fs													.	KCNC4	113		0			c.1712_1713insC																																									SO:0001589	frameshift_variant	3749	exon3			AGGAGCGCCGGGC	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.1714dupC	1.37:g.110768695_110768695dupC	ENSP00000358802:p.Arg572fs		139	0	0		199	0.06	11	NM_001039574	16	0	0	Q3MIM4|Q5TBI6	Frame_Shift_Ins	INS	ENST00000369787.3	37	CCDS821.1																																																																																					0.639	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000052146.2		NM_001039574		C	110768694	-	C	110768693	7	5	96	1	0	1	1	0	0	0	0	0	8032	1087	38	0	1856	0	KCNC4	1	110768693	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	1391020	110768693	138481928	38	6823											
OVGP1	5016	bcgsc.ca	37	chr1	111957533	111957533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcacaggggtcacagaCtgatgacccacaggggtcag	11	6	13	11	0	3	4	3	3	0	1	3	4	3	4	1	4	0	0	1	4	0	0	rs112145355		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					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)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q													.	OVGP1	177		0			c.G1590A												59	57	58					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	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.1590G>A	1.37:g.111957533C>T			120	0.0166666667	2		192	0.18	35	NM_002557	1	0	0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																					0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032461.1		NM_002557		T	111957533	C	T	111957533	2	4	96	1	0	0	0	0	0	0	0	1	11342	564	20	3		3	OVGP1	1	111957533	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1188840	111957533	137293088	39	6824											
CD101	9398	broad.mit.edu	37	chr1	117564466	117564466	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaagacttatttcagctGcacattctgaatgtggaaga	12	12	8	9	0	2	3	1	1	1	2	3	4	3	4	1	1	2	2	1	1	4	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:117564466G>A	ENST00000256652.4	+	7	2347	c.2289G>A	c.(2287-2289)ctG>ctA	p.L763L	CD101_ENST00000369470.1_Silent_p.L763L	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	763	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TATTTCAGCTGCACATTCTGA	0.438																																					p.L763L													.	CD101	95		0			c.G2289A												96	97	97					1																	117564466		2203	4300	6503	SO:0001819	synonymous_variant	9398	exon7			TCAGCTGCACATT	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2289G>A	1.37:g.117564466G>A			183	0.0054644809	1		243	0.02	4	NM_001256109	4	0	0	Q15856	Silent	SNP	ENST00000256652.4	37	CCDS891.1																																																																																					0.438	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033274.1		NM_004258		A	117564466	G	A	117564466	2	1	96	1	0	0	0	0	0	0	0	1	2964	1306	46	2		2	CD101	1	117564466	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5606933	117564466	131686155	40	6825											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882849	144882849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgctctttcagctccGcattctcaaggcaaaggctc	8	11	7	15	1	4	0	2	0	3	0	7	0	5	0	2	2	2	5	2	2	2	2	rs150222697		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:144882849G>A	ENST00000369354.3	-	24	3359	c.3170C>T	c.(3169-3171)gCg>gTg	p.A1057V	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A1057V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A1194V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A1123V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A1194V|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1057					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)		TTTCAGCTCCGCATTCTCAAG	0.493			T	PDGFRB	MPD																																p.A1123V				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	PDE4DIP_ENST00000369356,NS,carcinoma,+1,2	PDE4DIP	817	2	0			c.C3368T							G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	265	246	252		3368,3170,3170	4.8	1	1	dbSNP_134	252	2,8590	2.2+/-6.3	0,2,4294	yes	missense,missense,missense	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	64,64,64	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	1123/2241,1057/2363,1057/2347	144882849	2,12996	2203	4296	6499	SO:0001583	missense	9659	exon27			AGCTCCGCATTCT	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.3170C>T	1.37:g.144882849G>A	ENSP00000358360:p.Ala1057Val		256	0.00390625	1		356	0.02	6	NM_001198832	0		0	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	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416460	0.83449	0.0	2.33E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01804	4.63;4.7;4.7;4.72;4.7	5.76	4.85	0.62838	.	.	.	.	.	T	0.01976	0.0062	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.60188	-0.7312	9	0.56958	D	0.05	.	7.8592	0.29499	0.0815:0.0:0.76:0.1585	.	1123;1057	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	1123;1057;1057;1194;1194	ENSP00000327209:A1123V;ENSP00000358360:A1057V;ENSP00000358363:A1057V;ENSP00000435654:A1194V;ENSP00000358366:A1194V	ENSP00000327209:A1123V	A	-	2	0	PDE4DIP	143594206	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.375000	0.59549	1.455000	0.47813	0.655000	0.94253	GCG			0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000038858.2		NM_022359		A	144882849	G	A	144882849	3	1	96	1	0	0	0	0	1	0	0	0	11660	1087	38	1	3954	1	PDE4DIP	1	144882849	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	27318383	144882849	104367772	41	6826											
PDE4DIP	9659	broad.mit.edu	37	chr1	144921887	144921887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcactctcgtgtgctgcaGcctctacaaattgcacacat	9	12	7	13	1	3	0	1	0	2	0	4	0	3	0	1	0	5	4	1	0	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:144921887G>T	ENST00000369354.3	-	9	1331	c.1142C>A	c.(1141-1143)gCt>gAt	p.A381D	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A381D|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.A544D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A518D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.A381D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A447D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.A544D|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.A168D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.A381D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A518D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	381					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)		GTGTGCTGCAGCCTCTACAAA	0.443			T	PDGFRB	MPD																																p.A544D				Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	817		0			c.C1631A												422	442	435					1																	144921887		2203	4296	6499	SO:0001583	missense	9659	exon5			GCTGCAGCCTCTA	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.1142C>A	1.37:g.144921887G>T	ENSP00000358360:p.Ala381Asp		222	0.0045045045	1		312	0.01	3	NM_001002811	20	0	0	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	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099147	0.76983	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408;ENST00000532801	T;T;T;T;T;T;T;T;T;T;T	0.51817	4.71;4.81;4.8;4.81;4.8;3.81;3.82;2.72;2.72;2.71;0.69	5.82	5.82	0.92795	.	.	.	.	.	T	0.58177	0.2104	M	0.62723	1.935	0.80722	D	1	B;D;B;D;D	0.76494	0.314;0.959;0.36;0.999;0.983	B;P;B;D;P	0.67725	0.121;0.714;0.175;0.953;0.851	T	0.52571	-0.8558	9	0.37606	T	0.19	.	17.595	0.88009	0.0:0.0:1.0:0.0	.	544;381;544;447;381	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	D	447;381;381;544;518;518;381;381;544;544;168;110	ENSP00000327209:A447D;ENSP00000358360:A381D;ENSP00000358363:A381D;ENSP00000435654:A518D;ENSP00000358366:A518D;ENSP00000358357:A381D;ENSP00000358355:A381D;ENSP00000316434:A544D;ENSP00000433392:A544D;ENSP00000436791:A168D;ENSP00000436751:A110D	ENSP00000327209:A447D	A	-	2	0	PDE4DIP	143633244	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.279000	0.58953	2.754000	0.94517	0.650000	0.86243	GCT			0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000038858.2		NM_022359		T	144921887	G	T	144921887	3	4	96	1	0	0	0	0	1	0	0	0	11660	971	34	2	6052	2	PDE4DIP	1	144921887	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	39038	144921887	104328734	42	6827											
SNX27	81609	broad.mit.edu	37	chr1	151665438	151665438	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcgatgggacacagatGaagaagggatggccttctgt	11	8	15	7	1	1	3	0	1	1	2	1	6	1	5	1	3	2	1	1	3	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:151665438G>T	ENST00000458013.2	+	10	1561	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	SNX27_ENST00000368843.3_Nonsense_Mutation_p.E481*|SNX27_ENST00000368838.1_Nonsense_Mutation_p.E388*			Q96L92	SNX27_HUMAN	sorting nexin family member 27	481	FERM-like region F3.				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)			GGACACAGATGAAGAAGGGAT	0.468																																					p.E481X	Colon(46;291 966 40145 41237 41888)												.	SNX27	44		0			c.G1441T												143	141	142					1																	151665438		2203	4300	6503	SO:0001587	stop_gained	81609	exon10			ACAGATGAAGAAG	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.1441G>T	1.37:g.151665438G>T	ENSP00000400333:p.Glu481*		204	0.0098039216	2		233	0.02	4	NM_030918	7	0	0	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Nonsense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	G	38	6.640161	0.97726	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.7243	0.85417	0.0:0.0:1.0:0.0	.	.	.	.	X	481;481;388	.	ENSP00000357831:E388X	E	+	1	0	SNX27	149932062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.970000	0.93415	2.726000	0.93360	0.563000	0.77884	GAA			0.468	SNX27-003	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000036624.3		NM_030918		T	151665438	G	T	151665438	4	4	96	1	0	0	0	0	0	1	0	0	14920	1291	45	3	1479	3	SNX27	1	151665438	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6743551	151665438	97585183	43	6828											
TDRKH	11022	broad.mit.edu	37	chr1	151751708	151751708	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagaacgaattgtctcGccgcctctccctacattaaa	12	10	6	13	3	2	2	0	0	2	2	4	3	2	2	3	0	2	0	3	0	6	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:151751708G>A	ENST00000368822.1	-	5	1065	c.432C>T	c.(430-432)ggC>ggT	p.G144G	TDRKH_ENST00000368823.1_Silent_p.G140G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Silent_p.G144G|TDRKH_ENST00000458431.2_Silent_p.G144G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368824.3_Silent_p.G144G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	144	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAATTGTCTCGCCGCCTCTCC	0.403																																					p.G144G													.	TDRKH	45		0			c.C432T												94	87	89					1																	151751708		1859	4087	5946	SO:0001819	synonymous_variant	11022	exon5			TGTCTCGCCGCCT	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.432C>T	1.37:g.151751708G>A			138	0	0		188	0.02	3	NM_001083965	10	0	0	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	CCDS41394.1																																																																																					0.403	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000036648.2		NM_006862		A	151751708	G	A	151751708	2	1	96	1	0	0	0	0	0	0	0	1	15760	1074	38	1		1	TDRKH	1	151751708	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	86270	151751708	97498913	44	6829											
LOR	4014	broad.mit.edu	37	chr1	153233476	153233476	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccagtggactgcgtGaagacctctggcggcggtgg	6	6	16	13	3	1	2	0	1	1	1	1	3	1	3	3	5	2	0	3	5	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:153233476G>T	ENST00000368742.3	+	2	108	c.51G>T	c.(49-51)gtG>gtT	p.V17V		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	17					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGACTGCGTGAAGACCTCTg	0.662																																					p.V17V													.	LOR	19		0			c.G51T												15	19	17					1																	153233476		2164	4216	6380	SO:0001819	synonymous_variant	4014	exon2			CTGCGTGAAGACC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.51G>T	1.37:g.153233476G>T			155	0.0064516129	1		206	0.02	4	NM_000427	0		0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																					0.662	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039107.1		NM_000427		T	153233476	G	T	153233476	2	4	96	1	0	0	0	0	0	0	0	1	8913	1277	45	3		3	LOR	1	153233476	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1481768	153233476	96017145	45	6830											
BCAN	63827	broad.mit.edu	37	chr1	156626126	156626126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacatgcttggaggaggaGgaaggggtccgctgcctatg	8	7	19	7	1	0	0	0	0	0	0	1	5	1	5	2	7	2	2	2	7	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:156626126G>T	ENST00000329117.5	+	9	2331	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	665	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGGAGGAGGAAGGGGTCC	0.647																																					p.E665D													BCAN,NS,carcinoma,+2,1	BCAN	174	1	0			c.G1995T												90	81	84					1																	156626126		2203	4300	6503	SO:0001583	missense	63827	exon9			GGAGGAGGAAGGG	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1995G>T	1.37:g.156626126G>T	ENSP00000331210:p.Glu665Asp		140	0	0		224	0.01	3	NM_021948	4	0	0	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	1.055	-0.674671	0.03378	.	.	ENSG00000132692	ENST00000329117	D	0.92249	-3.0	5.42	1.03	0.20045	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.491622	0.19289	N	0.117954	T	0.66307	0.2776	N	0.14661	0.345	0.47276	D	0.999372	B	0.10296	0.003	B	0.10450	0.005	T	0.56727	-0.7931	10	0.14252	T	0.57	-13.6374	4.2316	0.10606	0.0825:0.1134:0.4534:0.3507	.	665	Q96GW7	PGCB_HUMAN	D	665	ENSP00000331210:E665D	ENSP00000331210:E665D	E	+	3	2	BCAN	154892750	0.000000	0.05858	1.000000	0.80357	0.102000	0.19082	-0.338000	0.07842	0.616000	0.30141	0.561000	0.74099	GAG			0.647	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000081844.2		NM_021948		T	156626126	G	T	156626126	3	4	96	1	0	0	0	0	1	0	0	0	1345	991	35	3	2099	3	BCAN	1	156626126	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3392650	156626126	92624495	46	6831											
NTRK1	4914	broad.mit.edu	37	chr1	156846300	156846300	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcggcgtctgcaccGagggccgccccctgctcatg	3	9	12	17	4	3	0	1	0	2	0	4	1	3	0	4	2	2	3	4	2	0	2	rs150579345	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:156846300G>T	ENST00000524377.1	+	14	1782	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	NTRK1_ENST00000392302.2_Nonsense_Mutation_p.E545*|NTRK1_ENST00000368196.3_Nonsense_Mutation_p.E575*|NTRK1_ENST00000358660.3_Nonsense_Mutation_p.E578*	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CGTCTGCACCGAGGGCCGCCC	0.672			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																											p.E581X				Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	NTRK1_ENST00000392302,NS,carcinoma,-2,2	NTRK1	287	2	0			c.G1741T												38	35	36					1																	156846300		2203	4300	6503	SO:0001587	stop_gained	4914	exon14			TGCACCGAGGGCC	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1741G>T	1.37:g.156846300G>T	ENSP00000431418:p.Glu581*		108	0	0		173	0.02	3	NM_002529	0		0	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Nonsense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	40	8.341668	0.98769	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6171	0.88070	0.0:0.0:1.0:0.0	.	.	.	.	X	545;575;581;578	.	ENSP00000351486:E578X	E	+	1	0	NTRK1	155112924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.746000	0.94184	0.561000	0.74099	GAG			0.672	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000392279.1		NM_002529		T	156846300	G	T	156846300	4	4	96	1	0	0	0	0	0	1	0	0	10723	1059	37	1	1925	1	NTRK1	1	156846300	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	220174	156846300	92404321	47	6832											
NR1I3	9970	broad.mit.edu	37	chr1	161202704	161202704	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggggccagggtgggcaaGggctggtgatggatgaacag	10	5	20	6	0	0	2	0	2	0	0	0	3	0	3	1	7	1	2	1	7	2	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:161202704G>T	ENST00000367982.4	-	5	596	c.441C>A	c.(439-441)ccC>ccA	p.P147P	NR1I3_ENST00000367980.2_Silent_p.P147P|NR1I3_ENST00000367984.4_Silent_p.P147P|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367981.3_Silent_p.P118P|NR1I3_ENST00000437437.2_Silent_p.P118P|NR1I3_ENST00000412844.2_Silent_p.P118P|NR1I3_ENST00000367979.2_Silent_p.P147P|NR1I3_ENST00000442691.2_Silent_p.P147P|NR1I3_ENST00000505005.1_Silent_p.P147P|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367983.4_Silent_p.P147P|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000511676.1_Silent_p.P118P|NR1I3_ENST00000367985.3_Silent_p.P147P|NR1I3_ENST00000512372.1_Silent_p.P118P|NR1I3_ENST00000506209.1_Silent_p.P118P|NR1I3_ENST00000504010.1_Silent_p.P118P|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Silent_p.P118P|NR1I3_ENST00000428574.2_Silent_p.P147P|NR1I3_ENST00000515452.1_Silent_p.P147P|NR1I3_ENST00000515621.1_Silent_p.P72P			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	147					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGGTGGGCAAGGGCTGGTGAT	0.552																																					p.P147P													NR1I3_ENST00000428574,NS,carcinoma,0,2	NR1I3	74	2	0			c.C441A												125	130	128					1																	161202704		2203	4300	6503	SO:0001819	synonymous_variant	0	exon5			GGGCAAGGGCTGG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.441C>A	1.37:g.161202704G>T			178	0	0		261	0.01	3	NM_001077481	5	0	0	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Silent	SNP	ENST00000367982.4	37	CCDS41430.1																																																																																					0.552	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000083048.2				T	161202704	G	T	161202704	2	4	96	1	0	0	0	0	0	0	0	1	10638	987	35	3		3	NR1I3	1	161202704	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4356404	161202704	88047917	48	6833											
FCGR3A	2214	broad.mit.edu	37	chr1	161518226	161518226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgatatggacttctaGctgcaccgggtcactgaggg	8	9	12	12	2	3	1	2	1	1	0	3	3	3	2	2	3	2	2	2	3	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:161518226G>T	ENST00000436743.1	-	4	458	c.304C>A	c.(304-306)Cta>Ata	p.L102I	FCGR3A_ENST00000367969.3_Missense_Mutation_p.L138I|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.L102I|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.L137I	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	102	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGACTTCTAGCTGCACCGGG	0.507																																					p.L138I													.	FCGR3A	38		0			c.C412A												103	101	101					1																	161518226		2203	4297	6500	SO:0001583	missense	2214	exon3			CTTCTAGCTGCAC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.304C>A	1.37:g.161518226G>T	ENSP00000416607:p.Leu102Ile		480	0.0083333333	4		629	0.01	7	NM_000569	14	0	0	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.90|17.90	3.502679|3.502679	0.64298|0.64298	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336|ENST00000426740	T;T;T;T;T;T|.	0.13901|.	2.55;2.55;2.55;2.55;2.55;2.55|.	4.43|4.43	2.54|2.54	0.30619|0.30619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.41001|.	D|.	0.000976|.	T|T	0.40546|0.40546	0.1121|0.1121	M|M	0.80847|0.80847	2.515|2.515	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	T|T	0.34502|0.34502	-0.9826|-0.9826	10|5	0.87932|.	D|.	0|.	.|.	6.1628|6.1628	0.20373|0.20373	0.2234:0.0:0.7766:0.0|0.2234:0.0:0.7766:0.0	.|.	102;137;102|.	P08637;E9PG94;Q9UPY7|.	FCG3A_HUMAN;.;.|.	I|R	138;137;102;102;102;101|118	ENSP00000356946:L138I;ENSP00000392047:L137I;ENSP00000416607:L102I;ENSP00000356944:L102I;ENSP00000444971:L102I;ENSP00000396567:L101I|.	ENSP00000356944:L102I|.	L|S	-|-	1|3	2|2	FCGR3A|FCGR3A	159784850|159784850	0.060000|0.060000	0.20803|0.20803	0.025000|0.025000	0.17156|0.17156	0.500000|0.500000	0.33767|0.33767	0.736000|0.736000	0.26130|0.26130	1.209000|1.209000	0.43321|0.43321	0.591000|0.591000	0.81541|0.81541	CTA|AGC			0.507	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000102169.2		NM_000569		T	161518226	G	T	161518226	3	4	96	1	0	0	0	0	1	0	0	0	5797	962	34	2	472	2	FCGR3A	1	161518226	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	315522	161518226	87732395	49	6834											
FCRLB	127943	broad.mit.edu	37	chr1	161697415	161697415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctctcactttgctgtgaGcccgggaaccccagagacca	9	7	9	16	1	1	2	1	1	1	1	2	4	1	3	5	1	3	1	5	1	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:161697415G>T	ENST00000367948.2	+	8	1459	c.1244G>T	c.(1243-1245)aGc>aTc	p.S415I	FCRLB_ENST00000367945.1_3'UTR|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S415I|FCRLB_ENST00000336830.5_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	415					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTTGCTGTGAGCCCGGGAACC	0.647																																					p.S415I													.	FCRLB	35		0			c.G1244T												22	28	26					1																	161697415		2200	4300	6500	SO:0001583	missense	127943	exon6			CTGTGAGCCCGGG	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.1244G>T	1.37:g.161697415G>T	ENSP00000356925:p.Ser415Ile		179	0.0055865922	1		276	0.01	4	NM_001002901	1	0	0	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443569	0.63067	.	.	ENSG00000162746	ENST00000367948;ENST00000392158	T;T	0.01560	4.77;4.77	4.46	-0.763	0.11030	.	0.810102	0.10941	N	0.617263	T	0.00496	0.0016	L	0.29908	0.895	0.09310	N	0.999999	B	0.34015	0.435	B	0.28385	0.089	T	0.46843	-0.9162	10	0.62326	D	0.03	.	4.2404	0.10645	0.276:0.3406:0.3835:0.0	.	415	Q6BAA4	FCRLB_HUMAN	I	415	ENSP00000356925:S415I;ENSP00000375999:S415I	ENSP00000356925:S415I	S	+	2	0	FCRLB	159964039	0.120000	0.22244	0.125000	0.21846	0.186000	0.23388	0.092000	0.15066	-0.038000	0.13624	0.462000	0.41574	AGC			0.647	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083585.1		NM_152378		T	161697415	G	T	161697415	3	4	96	1	0	0	0	0	1	0	0	0	5814	971	34	2	1266	2	FCRLB	1	161697415	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	179189	161697415	87553206	50	6835											
PBX1	5087	broad.mit.edu	37	chr1	164815847	164815847	+	Frame_Shift_Del	DEL	T	T	-																															ggaggttggcaggatgctacTaccccttcatcagtgacctc																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:164815847delT	ENST00000420696.2	+	9	1415	c.1227delT	c.(1225-1227)actfs	p.T410fs	PBX1_ENST00000560641.1_Frame_Shift_Del_p.T305fs|PBX1_ENST00000540246.1_Intron|PBX1_ENST00000540236.1_Intron|PBX1_ENST00000559240.1_Frame_Shift_Del_p.T319fs|PBX1_ENST00000367897.1_3'UTR	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	410					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	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 (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)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGGATGCTACTACCCCTTCAT	0.532			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																p.T409fs				Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	.	PBX1	60		0			c.1227delT												184	156	166					1																	164815847		2203	4300	6503	SO:0001589	frameshift_variant	5087	exon9			TGCTACTACCCCT	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1227delT	1.37:g.164815847delT	ENSP00000405890:p.Thr410fs		146	0	0		252	0.03	7	NM_002585	143	0	0	B4DSC1|F5H4U9|Q5T488	Frame_Shift_Del	DEL	ENST00000420696.2	37	CCDS1246.1																																																																																					0.532	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082864.4		NM_002585		-	164815847	T	-	164815847	7	5	96	1	0	1	0	1	0	0	0	0	11509	1509	53	0	1261	0	PBX1	1	164815847	Frame_Shift_Del	DEL	T	TCGA-VF-A8A8-01A-11D-A435-10	3118432	164815847	84434774	51	6836											
KLHL20	27252	broad.mit.edu	37	chr1	173743459	173743459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtatgatccgaaggaGaacaagtggactcgggtagc	12	7	15	7	2	0	2	0	1	0	1	2	5	1	3	1	4	3	3	1	4	5	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:173743459G>T	ENST00000209884.4	+	9	1447	c.1311G>T	c.(1309-1311)gaG>gaT	p.E437D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E248D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	437					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATCCGAAGGAGAACAAGTGGA	0.453																																					p.E437D	GBM(159;862 2695 6559 23041)												.	KLHL20	54		0			c.G1311T												249	213	225					1																	173743459		2203	4300	6503	SO:0001583	missense	27252	exon9			GAAGGAGAACAAG	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1311G>T	1.37:g.173743459G>T	ENSP00000209884:p.Glu437Asp		120	0	0		172	0.02	3	NM_014458	13	0	0	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665704	0.47677	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.78364	-1.17;-1.17	5.27	4.36	0.52297	Galactose oxidase, beta-propeller (1);	0.095389	0.64402	D	0.000001	T	0.52565	0.1742	N	0.25957	0.775	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15052	0.008;0.012	T	0.56019	-0.8048	10	0.54805	T	0.06	.	12.7468	0.57285	0.0807:0.0:0.9193:0.0	.	248;437	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	D	248;437	ENSP00000443121:E248D;ENSP00000209884:E437D	ENSP00000209884:E437D	E	+	3	2	KLHL20	172010082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.742000	0.55097	1.222000	0.43521	0.655000	0.94253	GAG			0.453	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097582.1		NM_014458		T	173743459	G	T	173743459	3	4	96	1	0	0	0	0	1	0	0	0	8390	933	33	3	1341	3	KLHL20	1	173743459	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8927612	173743459	75507162	52	6837											
ASTN1	460	broad.mit.edu	37	chr1	176852036	176852036	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatcgtatgatcagagaGatggtggtgagctgcttgtc	9	11	15	6	1	1	4	1	2	0	2	3	5	1	4	0	3	2	4	0	3	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:176852036G>T	ENST00000367654.3	-	20	3556	c.3345C>A	c.(3343-3345)atC>atA	p.I1115I	ASTN1_ENST00000424564.2_Silent_p.I1107I|ASTN1_ENST00000361833.2_Silent_p.I1107I|ASTN1_ENST00000367657.3_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																																					p.I1107I													.	ASTN1	314		0			c.C3321A												170	144	153					1																	176852036		2203	4300	6503	SO:0001819	synonymous_variant	460	exon20			CAGAGAGATGGTG	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>A	1.37:g.176852036G>T			161	0	0		246	0.02	4	NM_207108	7	0	0	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																						0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding				NM_004319		T	176852036	G	T	176852036	2	4	96	1	0	0	0	0	0	0	0	1	1064	932	33	3		3	ASTN1	1	176852036	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3108577	176852036	72398585	53	6838											
RASAL2	9462	broad.mit.edu	37	chr1	178426900	178426900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattattgctggttcagcaaGcctcctctcagagcatgact	9	12	8	12	0	2	2	2	1	1	1	4	2	3	2	2	1	4	4	2	1	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:178426900G>T	ENST00000462775.1	+	12	2175	c.2050G>T	c.(2050-2052)Gcc>Tcc	p.A684S	RASAL2_ENST00000448150.3_Missense_Mutation_p.A814S|RASAL2_ENST00000367649.3_Missense_Mutation_p.A825S	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	684					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						GGTTCAGCAAGCCTCCTCTCA	0.463																																					p.A825S													.	RASAL2	334		0			c.G2473T												96	92	93					1																	178426900		2203	4300	6503	SO:0001583	missense	9462	exon14			CAGCAAGCCTCCT	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	ENST00000462775.1:c.2050G>T	1.37:g.178426900G>T	ENSP00000420558:p.Ala684Ser		163	0	0		191	0.02	4	NM_170692	17	0	0	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.906|3.906	-0.021038|-0.021038	0.07634|0.07634	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.12361|.	2.69;2.69;2.69|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.452774|.	0.24436|.	N|.	0.038551|.	T|T	0.32971|0.32971	0.0847|0.0847	N|N	0.02916|0.02916	-0.46|-0.46	0.49299|0.49299	D|D	0.999773|0.999773	B;B;B|.	0.11235|.	0.003;0.003;0.004|.	B;B;B|.	0.16722|.	0.006;0.016;0.005|.	T|T	0.30119|0.30119	-0.9989|-0.9989	10|5	0.07482|.	T|.	0.82|.	.|.	14.9182|14.9182	0.70815|0.70815	0.0:0.0:0.8564:0.1436|0.0:0.0:0.8564:0.1436	.|.	814;684;825|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	S|I	814;825;684|234	ENSP00000407768:A814S;ENSP00000356621:A825S;ENSP00000420558:A684S|.	ENSP00000356621:A825S|.	A|S	+|+	1|2	0|0	RASAL2|RASAL2	176693523|176693523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.735000|1.735000	0.38176|0.38176	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	GCC|AGC			0.463	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000084758.3		NM_170692		T	178426900	G	T	178426900	3	4	96	1	0	0	0	0	1	0	0	0	13087	971	34	2	2565	2	RASAL2	1	178426900	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1574864	178426900	70823721	54	6839											
NPHS2	7827	broad.mit.edu	37	chr1	179533849	179533849	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgcagaaccagatggaaaaAgggaaggtcatgatgatgaa	18	5	13	5	1	1	5	1	3	0	2	1	7	1	7	1	3	1	1	1	3	5	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:179533849A>G	ENST00000367615.4	-	2	422	c.354T>C	c.(352-354)ccT>ccC	p.P118P	NPHS2_ENST00000367616.4_Silent_p.P118P	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	118			P -> L (in NPHS2). {ECO:0000269|PubMed:15253708}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGATGGAAAAAGGGAAGGTCA	0.463																																					p.P118P													.	NPHS2	46		0			c.T354C												77	79	78					1																	179533849		2203	4300	6503	SO:0001819	synonymous_variant	7827	exon2			GGAAAAAGGGAAG	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.354T>C	1.37:g.179533849A>G			171	0	0		238	0.04	9	NM_014625	0		0	B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	CCDS1331.1																																																																																					0.463	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085283.1				G	179533849	A	G	179533849	2	3	96	1	0	0	0	0	0	0	0	1	10600	59	3	4		4	NPHS2	1	179533849	Silent	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	1106949	179533849	69716772	55	6840											
CEP350	9857	broad.mit.edu	37	chr1	180063647	180063648	+	Frame_Shift_Ins	INS	-	-	A																															aacaccccaagacctatcccINSaaaatgttgaggaacagtcg																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:180063647_180063648insA	ENST00000367607.3	+	34	8825_8826	c.8407_8408insA	c.(8407-8409)caafs	p.Q2803fs	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2803					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						AGACCTATCCCAAAATGTTGAG	0.401																																					p.Q2803fs													.	CEP350	418		0			c.8407_8408insA																																									SO:0001589	frameshift_variant	9857	exon34			CTATCCCAAAATG	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.8411dupA	1.37:g.180063651_180063651dupA	ENSP00000356579:p.Gln2803fs		256	0	0		369	0.02	6	NM_014810	16	0	0	O75068|Q8TDK3|Q8WY20	Frame_Shift_Ins	INS	ENST00000367607.3	37	CCDS1336.1																																																																																					0.401	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085315.2		NM_014810		A	180063648	-	A	180063647	7	5	96	1	0	1	1	0	0	0	0	0	3256	595	21	0	8537	0	CEP350	1	180063647	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	529798	180063647	69186974	56	6841											
CEP350	9857	broad.mit.edu	37	chr1	180068046	180068046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttcagtcttaaaaaggagCcaaaccacaaaacagattgg	17	8	8	8	0	2	1	1	0	1	1	2	2	2	2	2	2	3	1	2	2	6	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:180068046C>T	ENST00000367607.3	+	37	9533	c.9115C>T	c.(9115-9117)Cca>Tca	p.P3039S	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3039					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						TAAAAAGGAGCCAAACCACAA	0.373																																					p.P3039S													.	CEP350	418		0			c.C9115T												91	84	86					1																	180068046		2203	4300	6503	SO:0001583	missense	9857	exon37			AAGGAGCCAAACC	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.9115C>T	1.37:g.180068046C>T	ENSP00000356579:p.Pro3039Ser		231	0.0043290043	1		318	0.01	4	NM_014810	25	0	0	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.324275|2.324275	0.41197|0.41197	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000417046	.|T	.|0.56776	.|0.44	5.54|5.54	2.33|2.33	0.28932|0.28932	.|.	.|0.159990	.|0.29307	.|N	.|0.012522	T|T	0.34745|0.34745	0.0908|0.0908	L|L	0.38838|0.38838	1.175|1.175	0.32542|0.32542	N|N	0.533525|0.533525	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.08055	.|0.002;0.003	T|T	0.24799|0.24799	-1.0150|-1.0150	5|9	.|.	.|.	.|.	.|.	4.1315|4.1315	0.10151|0.10151	0.1265:0.5975:0.1226:0.1535|0.1265:0.5975:0.1226:0.1535	.|.	.|3039;3039	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	V|S	1213|3039;503	.|ENSP00000356579:P3039S	.|.	A|P	+|+	2|1	0|0	CEP350|CEP350	178334669|178334669	0.928000|0.928000	0.31464|0.31464	0.998000|0.998000	0.56505|0.56505	0.980000|0.980000	0.70556|0.70556	1.429000|1.429000	0.34903|0.34903	0.183000|0.183000	0.20059|0.20059	-0.282000|-0.282000	0.10007|0.10007	GCC|CCA			0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085315.2		NM_014810		T	180068046	C	T	180068046	3	4	96	1	0	0	0	0	1	0	0	0	3256	739	26	2	9257	2	CEP350	1	180068046	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	4399	180068046	69182575	57	6842											
LHX4	89884	broad.mit.edu	37	chr1	180199672	180199672	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgctccgagatgatgcAgagtgcgactgtccccgcgg	6	9	13	13	5	0	3	0	1	0	2	3	5	2	3	3	1	2	2	3	1	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:180199672A>G	ENST00000263726.2	+	1	252	c.8A>G	c.(7-9)cAg>cGg	p.Q3R		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	3					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|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)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GAGATGATGCAGAGTGCGACT	0.522																																					p.Q3R													.	LHX4	36		0			c.A8G												45	43	44					1																	180199672		2202	4300	6502	SO:0001583	missense	89884	exon1			TGATGCAGAGTGC	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.8A>G	1.37:g.180199672A>G	ENSP00000263726:p.Gln3Arg		118	0	0		143	0.03	4	NM_033343	0		0	Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976598	0.74360	.	.	ENSG00000121454	ENST00000263726	D	0.88586	-2.4	5.54	5.54	0.83059	.	0.249838	0.36555	N	0.002540	T	0.79203	0.4406	N	0.08118	0	0.48696	D	0.999692	P	0.39094	0.659	B	0.42959	0.403	T	0.77968	-0.2388	10	0.07030	T	0.85	.	14.6412	0.68726	1.0:0.0:0.0:0.0	.	3	Q969G2	LHX4_HUMAN	R	3	ENSP00000263726:Q3R	ENSP00000263726:Q3R	Q	+	2	0	LHX4	178466295	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.210000	0.72176	2.110000	0.64415	0.379000	0.24179	CAG			0.522	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084995.2		NM_033343		G	180199672	A	G	180199672	3	3	96	1	0	0	0	0	1	0	0	0	8788	188	7	4	10	4	LHX4	1	180199672	Missense_Mutation	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	131626	180199672	69050949	58	6843											
DHX9	1660	broad.mit.edu	37	chr1	182825677	182825677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttacaggagctttattGcagaaatgaccatttatatc	12	15	8	6	0	0	2	0	1	0	1	1	3	0	3	1	1	3	4	1	1	5	8			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:182825677G>T	ENST00000367549.3	+	7	747	c.637G>T	c.(637-639)Gca>Tca	p.A213S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	213	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAGCTTTATTGCAGAAATGAC	0.398																																					p.A213S	Colon(69;210 1162 3697 13559 39565)												.	DHX9	114		0			c.G637T												154	149	151					1																	182825677		1844	4097	5941	SO:0001583	missense	1660	exon7			TTTATTGCAGAAA	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.637G>T	1.37:g.182825677G>T	ENSP00000356520:p.Ala213Ser		110	0	0		202	0.03	6	NM_001357	68	0	0	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721874	0.89298	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.78003	-1.14	5.97	5.97	0.96955	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.058474	0.64402	D	0.000003	D	0.86883	0.6040	L	0.58428	1.81	0.80722	D	1	P	0.37101	0.582	P	0.57679	0.825	D	0.85342	0.1096	10	0.62326	D	0.03	.	20.0342	0.97551	0.0:0.0:1.0:0.0	.	213	Q08211	DHX9_HUMAN	S	213	ENSP00000356520:A213S	ENSP00000356520:A213S	A	+	1	0	DHX9	181092300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.156000	0.94705	2.834000	0.97654	0.650000	0.86243	GCA			0.398	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085522.2		NM_030588		T	182825677	G	T	182825677	3	4	96	1	0	0	0	0	1	0	0	0	4521	1319	46	2	659	2	DHX9	1	182825677	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2626005	182825677	66424944	59	6844											
KIF21B	23046	broad.mit.edu	37	chr1	200948728	200948728	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtaggaggtggacacGgagaacacaagccccgagtg	12	6	15	8	2	0	2	0	1	0	1	0	6	0	4	2	4	2	1	2	4	3	2	rs553494549	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:200948728G>T	ENST00000422435.2	-	30	4411	c.4095C>A	c.(4093-4095)tcC>tcA	p.S1365S	KIF21B_ENST00000360529.5_Silent_p.S1352S|KIF21B_ENST00000461742.2_Silent_p.S1365S|KIF21B_ENST00000332129.2_Silent_p.S1352S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1365					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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGGTGGACACGGAGAACACAA	0.582											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S1365S													.	KIF21B	208		0			c.C4095A												222	210	214					1																	200948728		2203	4300	6503	SO:0001819	synonymous_variant	23046	exon30			GGACACGGAGAAC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4095C>A	1.37:g.200948728G>T			164	0	0	2118	187	0.03	5	NM_001252102	4	0	0	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																					0.582	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000382635.1		XM_371332		T	200948728	G	T	200948728	2	4	96	1	0	0	0	0	0	0	0	1	8304	1103	39	1		1	KIF21B	1	200948728	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	18123051	200948728	48301893	60	6845											
PLEKHA6	22874	broad.mit.edu	37	chr1	204192650	204192651	+	Frame_Shift_Ins	INS	-	-	G																															ccgtggggattcagacgacaINSgggggtttgctggaggagcc																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:204192650_204192651insG	ENST00000272203.3	-	22	3410_3411	c.3094_3095insC	c.(3094-3096)ctgfs	p.L1032fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Ins_p.L1052fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1032										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)			TTCAGACGACAGGGGGTTTGCT	0.589																																					p.L1032fs													.	PLEKHA6	115		0			c.3095_3096insC																																									SO:0001589	frameshift_variant	22874	exon22			GACGACAGGGGGT	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.3095dupC	1.37:g.204192655_204192655dupG	ENSP00000272203:p.Leu1032fs		216	0	0		248	0.03	7	NM_014935	2	0	0	A7MD51|Q5VTI6	Frame_Shift_Ins	INS	ENST00000272203.3	37	CCDS1444.1																																																																																					0.589	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087889.3		NM_014935		G	204192651	-	G	204192650	7	5	96	1	0	1	1	0	0	0	0	0	12077	188	7	0	55	0	PLEKHA6	1	204192650	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	3243922	204192650	45057971	61	6846											
NUAK2	81788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	205274386	205274386	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttcactaggatcttaTggtcatgcccatcaaagggc	9	13	9	10	0	5	0	3	0	2	0	5	1	5	1	1	3	1	1	1	3	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:205274386T>A	ENST00000367157.3	-	6	890	c.764A>T	c.(763-765)cAt>cTt	p.H255L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TAGGATCTTATGGTCATGCCC	0.577																																					p.H255L													.	.			0			c.A764T												100	85	90					1																	205274386		2203	4300	6503	SO:0001583	missense	81788	exon6			ATCTTATGGTCAT	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.764A>T	1.37:g.205274386T>A	ENSP00000356125:p.His255Leu		72	0	0		97	0.14	14	NM_030952	4	0	0		Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	T	9.998	1.232678	0.22626	.	.	ENSG00000163545	ENST00000367157	T	0.64803	-0.12	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);	0.149393	0.31020	N	0.008401	T	0.33614	0.0869	N	0.00966	-1.09	0.46927	D	0.999252	P	0.43578	0.811	B	0.43838	0.433	T	0.52049	-0.8627	10	0.02654	T	1	.	15.683	0.77388	0.0:0.0:0.0:1.0	.	255	Q9H093	NUAK2_HUMAN	L	255	ENSP00000356125:H255L	ENSP00000356125:H255L	H	-	2	0	NUAK2	203541009	1.000000	0.71417	0.987000	0.45799	0.734000	0.41952	8.040000	0.89188	2.188000	0.69820	0.459000	0.35465	CAT			0.577	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090390.1		NM_030952		A	205274386	T	A	205274386	3	1	96	1	0	0	0	0	1	0	0	0	10730	1464	51	5	1130	5	NUAK2	1	205274386	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	1081736	205274386	43976235	62	6847											
RASSF5	83593	mdanderson.org	37	chr1	206681029	206681029	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagagcctgagcggccccGagctaccgccgccgcccccc	6	3	11	21	5	0	2	0	1	0	1	0	3	0	2	9	1	5	1	9	1	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:206681029G>T	ENST00000355294.4	+	1	151	c.94G>T	c.(94-96)Gag>Tag	p.E32*	RASSF5_ENST00000367117.3_Nonsense_Mutation_p.E32*	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	32					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGCGGCCCCGAGCTACCGCC	0.781																																					p.E32X	GBM(162;656 1984 11916 22872 31529)												.	.			0			c.G94T												2	2	2					1																	206681029		1302	3026	4328	SO:0001587	stop_gained	83593	exon1			GGCCCCGAGCTAC	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.94G>T	1.37:g.206681029G>T	ENSP00000347443:p.Glu32*		14	0	0		29	0.1	3	NM_182663	1	0	0	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Nonsense_Mutation	SNP	ENST00000355294.4	37	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693626	0.68386	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118	.	.	.	3.77	1.79	0.24919	.	0.096756	0.39615	U	0.001307	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.1349	6.7263	0.23359	0.1037:0.1783:0.718:0.0	.	.	.	.	X	32	.	ENSP00000342620:E32X	E	+	1	0	RASSF5	204747652	0.709000	0.27886	0.233000	0.24025	0.027000	0.11550	1.103000	0.31062	0.336000	0.23639	0.467000	0.42956	GAG			0.781	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088469.1		NM_031437		T	206681029	G	T	206681029	4	4	96	1	0	0	0	0	0	1	0	0	13112	1059	37	1	96	1	RASSF5	1	206681029	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1406643	206681029	42569592	63	6848											
LAMB3	3914	broad.mit.edu	37	chr1	209805963	209805963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggcctgcagaggccccagGcttgggtgcgcagcgatcag	6	5	18	12	2	1	1	1	0	0	1	1	2	1	1	3	5	3	3	3	5	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:209805963G>T	ENST00000356082.4	-	8	921	c.787C>A	c.(787-789)Cct>Act	p.P263T	LAMB3_ENST00000391911.1_Missense_Mutation_p.P263T|LAMB3_ENST00000367030.3_Missense_Mutation_p.P263T	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	263	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|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)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GAGGCCCCAGGCTTGGGTGCG	0.642																																					p.P263T													.	LAMB3	136		0			c.C787A												35	40	39					1																	209805963		2203	4300	6503	SO:0001583	missense	3914	exon8			CCCCAGGCTTGGG	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.787C>A	1.37:g.209805963G>T	ENSP00000348384:p.Pro263Thr		196	0.0051020408	1		276	0.02	5	NM_000228	6	0	0	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	8.276	0.814565	0.16607	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.35789	1.29;1.29;1.29	4.59	3.65	0.41850	EGF-like, laminin (3);	0.670270	0.15143	N	0.278171	T	0.21509	0.0518	N	0.17278	0.47	0.23314	N	0.997929	B;B	0.28470	0.029;0.213	B;B	0.35182	0.015;0.197	T	0.28618	-1.0038	10	0.13470	T	0.59	.	6.0644	0.19856	0.1067:0.1905:0.7028:0.0	.	263;263	B4DL55;Q13751	.;LAMB3_HUMAN	T	263	ENSP00000375778:P263T;ENSP00000348384:P263T;ENSP00000355997:P263T	ENSP00000348384:P263T	P	-	1	0	LAMB3	207872586	0.075000	0.21258	0.274000	0.24659	0.086000	0.17979	0.446000	0.21694	1.258000	0.44101	0.555000	0.69702	CCT			0.642	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088525.2		NM_000228		T	209805963	G	T	209805963	3	4	96	1	0	0	0	0	1	0	0	0	8627	1203	42	2	2795	2	LAMB3	1	209805963	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3124934	209805963	39444658	64	6849											
GPATCH2	55105	broad.mit.edu	37	chr1	217604630	217604630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgtccaaggcctgacccagGcgtccagcccatattctgaa	9	8	9	15	2	1	2	0	2	1	0	4	2	3	2	5	2	1	0	5	2	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:217604630G>T	ENST00000366935.3	-	10	1554	c.1444C>A	c.(1444-1446)Cct>Act	p.P482T		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	482	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.P482S(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCTGACCCAGGCGTCCAGCCC	0.463																																					p.P482T													GPATCH2,NS,carcinoma,0,1	GPATCH2	53	1	1	Substitution - Missense(1)	ovary(1)	c.C1444A												115	118	117					1																	217604630		2203	4300	6503	SO:0001583	missense	55105	exon10			ACCCAGGCGTCCA	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1444C>A	1.37:g.217604630G>T	ENSP00000355902:p.Pro482Thr		197	0	0		296	0.01	4	NM_018040	13	0	0	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788336	0.90367	.	.	ENSG00000092978	ENST00000366935	T	0.39229	1.09	5.83	5.83	0.93111	D111/G-patch (3);	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	L	0.61036	1.89	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.65146	-0.6239	10	0.72032	D	0.01	.	20.111	0.97911	0.0:0.0:1.0:0.0	.	482	Q9NW75	GPTC2_HUMAN	T	482	ENSP00000355902:P482T	ENSP00000355902:P482T	P	-	1	0	GPATCH2	215671253	1.000000	0.71417	0.576000	0.28549	0.942000	0.58702	8.805000	0.91925	2.747000	0.94245	0.650000	0.86243	CCT			0.463	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001272.1		NM_018040		T	217604630	G	T	217604630	3	4	96	1	0	0	0	0	1	0	0	0	6605	1203	42	2	146	2	GPATCH2	1	217604630	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7798667	217604630	31645991	65	6850											
HLX	3142	broad.mit.edu	37	chr1	221054601	221054602	+	Frame_Shift_Ins	INS	-	-	C																															ctcaggcctgcagccctcggINSccggccagttcttcgcatct																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:221054601_221054602insC	ENST00000366903.6	+	2	2159_2160	c.658_659insC	c.(658-660)gccfs	p.A220fs	HLX_ENST00000549319.1_5'UTR|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	220					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCAGCCCTCGGCCGGCCAGTTC	0.554																																					p.A220fs													.	HLX	67		0			c.658_659insC																																									SO:0001589	frameshift_variant	3142	exon2			CCCTCGGCCGGCC	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.660dupC	1.37:g.221054603_221054603dupC	ENSP00000355870:p.Ala220fs		175	0	0		271	0.03	8	NM_021958	5	0	0	B2R8A8|Q15988|Q59HE7|Q9NZ75	Frame_Shift_Ins	INS	ENST00000366903.6	37	CCDS1527.1																																																																																					0.554	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090902.3		NM_021958		C	221054602	-	C	221054601	7	5	96	1	0	1	1	0	0	0	0	0	7231	1203	42	0	664	0	HLX	1	221054601	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	3449971	221054601	28196020	66	6851											
HLX	3142	broad.mit.edu	37	chr1	221057861	221057861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagtggtgggagcagcGgcggcggcggcaatagtttc	6	7	20	8	4	0	0	0	0	0	0	1	2	0	2	0	7	2	3	0	7	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:221057861G>A	ENST00000366903.6	+	4	2783	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S	HLX_ENST00000549319.1_Missense_Mutation_p.G214S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	428	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G431delG(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		tgggagcagcggcggcggcgg	0.642																																					p.G428S													.	HLX	67		1	Deletion - In frame(1)	large_intestine(1)	c.G1282A												25	24	25					1																	221057861		2203	4300	6503	SO:0001583	missense	3142	exon4			AGCAGCGGCGGCG	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1282G>A	1.37:g.221057861G>A	ENSP00000355870:p.Gly428Ser		73	0.0136986301	1		88	0.03	3	NM_021958	12	0	0	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198731	0.38806	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91996	-2.65;-2.95	2.86	-0.687	0.11320	.	0.951617	0.08586	N	0.923819	T	0.78483	0.4290	N	0.14661	0.345	0.23320	N	0.997912	B	0.10296	0.003	B	0.06405	0.002	T	0.65689	-0.6107	10	0.02654	T	1	.	3.3157	0.07032	0.4133:0.2112:0.3755:0.0	.	428	Q14774	HLX_HUMAN	S	428;214	ENSP00000355870:G428S;ENSP00000449882:G214S	ENSP00000355870:G428S	G	+	1	0	HLX	219124484	0.977000	0.34250	0.038000	0.18304	0.016000	0.09150	1.135000	0.31454	0.081000	0.16988	-0.291000	0.09656	GGC			0.642	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090902.3		NM_021958		A	221057861	G	A	221057861	3	1	96	1	0	0	0	0	1	0	0	0	7231	1116	39	1	1296	1	HLX	1	221057861	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3260	221057861	28192760	67	6852											
ZNF678	339500	broad.mit.edu	37	chr1	227842069	227842069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attccattcaagaccttttgCcagagcaggatatgaaagat	14	11	8	8	0	1	4	1	1	0	3	2	5	2	5	3	1	2	1	3	1	3	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:227842069C>T	ENST00000343776.5	+	4	463	c.118C>T	c.(118-120)Cca>Tca	p.P40S	ZNF678_ENST00000608949.1_Missense_Mutation_p.P40S|ZNF678_ENST00000397097.3_Missense_Mutation_p.P95S	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	40					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)				AGACCTTTTGCCAGAGCAGGA	0.328																																					p.P95S													.	ZNF678	137		0			c.C283T												89	98	95					1																	227842069		2202	4299	6501	SO:0001583	missense	339500	exon4			CTTTTGCCAGAGC	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.118C>T	1.37:g.227842069C>T	ENSP00000344828:p.Pro40Ser		233	0	0		311	0.02	5	NM_178549	3	0	0	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	C	9.926	1.213601	0.22289	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	T;T;T	0.05513	3.43;3.55;3.64	0.499	-0.591	0.11675	.	.	.	.	.	T	0.14614	0.0353	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13845	-1.0494	8	0.51188	T	0.08	.	.	.	.	.	40	Q5SXM1	ZN678_HUMAN	S	40;95;95	ENSP00000344828:P40S;ENSP00000440403:P95S;ENSP00000394651:P95S	ENSP00000344828:P40S	P	+	1	0	ZNF678	225908692	0.001000	0.12720	0.062000	0.19696	0.068000	0.16541	-0.871000	0.04223	-0.350000	0.08262	-0.351000	0.07748	CCA			0.328	ZNF678-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000091976.2		NM_178549		T	227842069	C	T	227842069	3	4	96	1	0	0	0	0	1	0	0	0	18108	739	26	2	297	2	ZNF678	1	227842069	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	6784208	227842069	21408552	68	6853											
ARF1	375	broad.mit.edu	37	chr1	228285565	228285565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaggacctccccaacGccatgaatgcggccgagatc	9	5	9	18	3	0	2	0	1	0	1	3	4	2	3	7	2	2	0	7	2	2	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:228285565G>T	ENST00000541182.1	+	5	659	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	C1orf35_ENST00000472617.1_5'Flank|ARF1_ENST00000272102.5_Missense_Mutation_p.A133S|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Missense_Mutation_p.A133S	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	133					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTCCCCAACGCCATGAATGC	0.642																																					p.A133S													.	ARF1	24		0			c.G397T												62	65	64					1																	228285565		2203	4300	6503	SO:0001583	missense	375	exon5			CCCAACGCCATGA	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.397G>T	1.37:g.228285565G>T	ENSP00000440005:p.Ala133Ser		232	0	0		301	0.01	3	NM_001024228	1082	0	0	P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829229	0.90955	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.68765	-0.35;-0.35;-0.35	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.78622	0.4312	M	0.71036	2.16	0.80722	D	1	B	0.28291	0.206	P	0.45971	0.499	T	0.77619	-0.2520	10	0.66056	D	0.02	-16.8817	19.4067	0.94649	0.0:0.0:1.0:0.0	.	133	P84077	ARF1_HUMAN	S	133;133;124;133	ENSP00000272102:A133S;ENSP00000442980:A133S;ENSP00000440005:A133S	ENSP00000272102:A133S	A	+	1	0	ARF1	226352188	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.427000	0.97472	2.826000	0.97356	0.491000	0.48974	GCC			0.642	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091650.1		NM_001024227		T	228285565	G	T	228285565	3	4	96	1	0	0	0	0	1	0	0	0	844	1087	38	1	411	1	ARF1	1	228285565	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	443496	228285565	20965056	69	6854											
OBSCN	84033	broad.mit.edu	37	chr1	228529821	228529821	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgttgtgtgtcctcaggGcccccggactttgaagagga	6	10	15	10	1	1	2	1	1	0	1	2	4	2	4	3	4	0	2	3	4	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:228529821G>T	ENST00000422127.1	+	75	18080	c.18036G>T	c.(18034-18036)cgG>cgT	p.R6012R	OBSCN_ENST00000366707.4_Splice_Site_p.R3646R|OBSCN_ENST00000366709.4_Splice_Site_p.R3131R|OBSCN_ENST00000570156.2_Splice_Site_p.R6969R|OBSCN_ENST00000284548.11_Splice_Site_p.R6012R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6012					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)				TGTCCTCAGGGCCCCCGGACT	0.667																																					p.R6969R													.	OBSCN	2142		0			c.G20907T												15	19	18					1																	228529821		1967	4128	6095	SO:0001630	splice_region_variant	84033	exon86			CTCAGGGCCCCCG	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.18035-1G>T	1.37:g.228529821G>T			128	0	0		210	0.01	3	NM_001271223	15	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.792097	0.00623	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.22435	N	0.999103	.	.	.	.	.	.	T	0.07731	-1.0757	4	.	.	.	.	3.5393	0.07806	0.1404:0.3333:0.3252:0.201	.	.	.	.	S	629	.	.	A	+	1	0	OBSCN	226596444	0.000000	0.05858	0.001000	0.08648	0.536000	0.34869	-2.029000	0.01430	-2.843000	0.00334	-0.312000	0.09012	GCC			0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843	Silent	T	228529821	G	T	228529821	5	4	96	1	0	0	0	0	0	0	1	0	10829	1217	42	2	18330	2	OBSCN	1	228529821	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	244256	228529821	20720800	70	6855											
ACTA1	58	broad.mit.edu	37	chr1	229568835	229568835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccattgtcgcacacgaGggcggtggtctcgtcttcgt	5	10	15	11	5	2	0	0	0	2	0	5	2	2	1	1	4	1	1	1	4	0	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:229568835G>T	ENST00000366684.3	-	2	130	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	ACTA1_ENST00000366683.2_Missense_Mutation_p.L10I	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	10					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)				TCGCACACGAGGGCGGTGGTC	0.657																																					p.L10I													.	ACTA1	65		0			c.C28A												64	66	65					1																	229568835		2203	4300	6503	SO:0001583	missense	58	exon2			ACACGAGGGCGGT	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.28C>A	1.37:g.229568835G>T	ENSP00000355645:p.Leu10Ile		193	0.0051813472	1		298	0.01	3	NM_001100	34	0	0	P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231335	0.58777	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.96802	-4.13;-3.46	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000001	D	0.91348	0.7271	N	0.12887	0.27	0.30033	N	0.813267	B	0.06786	0.001	B	0.29077	0.098	D	0.87482	0.2421	10	0.87932	D	0	.	10.3318	0.43827	0.0915:0.0:0.9085:0.0	.	10	P68133	ACTS_HUMAN	I	10	ENSP00000355645:L10I;ENSP00000355644:L10I	ENSP00000312351:L10I	L	-	1	0	ACTA1	227635458	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	6.548000	0.73896	2.476000	0.83614	0.655000	0.94253	CTC			0.657	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092781.1		NM_001100		T	229568835	G	T	229568835	3	4	96	1	0	0	0	0	1	0	0	0	191	1000	35	3	1129	3	ACTA1	1	229568835	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1039014	229568835	19681786	71	6856											
C1orf198	84886	broad.mit.edu	37	chr1	230979534	230979534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttgggaggacttgaGggcctgggagccctgggaag	6	7	19	9	0	0	1	0	1	0	0	0	5	0	5	3	5	2	1	3	5	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:230979534G>T	ENST00000366663.5	-	3	633	c.493C>A	c.(493-495)Ctc>Atc	p.L165I	C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000523410.1_Missense_Mutation_p.L35I|C1orf198_ENST00000470540.1_Missense_Mutation_p.L127I	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	165						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGGACTTGAGGGCCTGGGAG	0.642																																					p.L165I													.	C1orf198	29		0			c.C493A												84	96	92					1																	230979534		2203	4300	6503	SO:0001583	missense	84886	exon3			ACTTGAGGGCCTG	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.493C>A	1.37:g.230979534G>T	ENSP00000355623:p.Leu165Ile		91	0	0		128	0.03	4	NM_032800	19	0	0	A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610574	0.28712	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.30981	1.53;1.53;1.51	4.45	-0.69	0.11309	.	0.828007	0.10339	N	0.686583	T	0.19565	0.0470	L	0.44542	1.39	0.09310	N	1	B	0.25667	0.131	B	0.22601	0.04	T	0.29701	-1.0003	10	0.42905	T	0.14	-12.5138	0.7411	0.00974	0.2633:0.1241:0.3636:0.2489	.	165	Q9H425	CA198_HUMAN	I	165;127;35;122	ENSP00000355623:L165I;ENSP00000428172:L127I;ENSP00000430967:L35I	ENSP00000355623:L165I	L	-	1	0	C1orf198	229046157	0.710000	0.27896	0.765000	0.31456	0.973000	0.67179	0.153000	0.16323	0.237000	0.21200	0.462000	0.41574	CTC			0.642	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092236.2		NM_032800		T	230979534	G	T	230979534	3	4	96	1	0	0	0	0	1	0	0	0	2028	1000	35	3	498	3	C1orf198	1	230979534	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1410699	230979534	18271087	72	6857											
LYST	1130	broad.mit.edu	37	chr1	235922556	235922556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttatgatctgctttgacCactggaaatcccagcactcc	9	13	7	12	0	1	2	0	2	1	0	3	3	3	3	3	1	2	3	3	1	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:235922556C>T	ENST00000389794.3	-	23	6771	c.6597G>A	c.(6595-6597)gtG>gtA	p.V2199V	LYST_ENST00000389793.2_Silent_p.V2199V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2199					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)			CTGCTTTGACCACTGGAAATC	0.512																																					p.V2199V													.	LYST	370		0			c.G6597A												138	135	136					1																	235922556		2203	4300	6503	SO:0001819	synonymous_variant	1130	exon23			TTTGACCACTGGA	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.6597G>A	1.37:g.235922556C>T			170	0.0058823529	1		259	0.01	3	NM_000081	0		0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																					0.512	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097533.5				T	235922556	C	T	235922556	2	4	96	1	0	0	0	0	0	0	0	1	9144	581	21	3		3	LYST	1	235922556	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	4943022	235922556	13328065	73	6858											
ADSS	159	broad.mit.edu	37	chr1	244615013	244615013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccttcgtcgccccactgcGcaccgagcaccaccgtcacc	6	6	8	21	5	1	0	1	0	0	0	3	1	1	0	7	0	3	2	7	0	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr1:244615013G>T	ENST00000366535.3	-	1	423	c.107C>A	c.(106-108)gCg>gAg	p.A36E		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)			GCCCCACTGCGCACCGAGCAC	0.716																																					p.A36E													.	ADSS	49		0			c.C107A												34	28	30					1																	244615013		2202	4299	6501	SO:0001583	missense	159	exon1			CACTGCGCACCGA	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.107C>A	1.37:g.244615013G>T	ENSP00000355493:p.Ala36Glu		117	0	0		220	0.02	4	NM_001126	54	0	0		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498457	0.85069	.	.	ENSG00000035687	ENST00000366535	T	0.49432	0.78	5.27	4.34	0.51931	.	0.048451	0.85682	D	0.000000	T	0.74366	0.3707	M	0.91459	3.21	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.81720	-0.0804	10	0.87932	D	0	-4.5963	15.3947	0.74781	0.0:0.1404:0.8596:0.0	.	36	P30520	PURA2_HUMAN	E	36	ENSP00000355493:A36E	ENSP00000355493:A36E	A	-	2	0	ADSS	242681636	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	8.889000	0.92470	1.190000	0.43042	0.655000	0.94253	GCG			0.716	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096697.1		NM_001126		T	244615013	G	T	244615013	3	4	96	1	0	0	0	0	1	0	0	0	347	1087	38	1	1315	1	ADSS	1	244615013	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8692457	244615013	4635608	74	6859											
C2orf50	130813	broad.mit.edu	37	chr2	11284192	11284193	+	Frame_Shift_Ins	INS	-	-	G																															tggacttcttcttcacagaaINSggggcccggaagaagaagct																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:11284192_11284193insG	ENST00000381585.3	+	3	726_727	c.444_445insG	c.(445-447)gggfs	p.G149fs	C2orf50_ENST00000405022.3_Frame_Shift_Ins_p.G149fs			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	149										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		TCTTCACAGAAGGGGCCCGGAA	0.604																																					p.E148fs													.	C2orf50	12		0			c.444_445insG																																									SO:0001589	frameshift_variant	130813	exon3			CACAGAAGGGGCC	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.448dupG	2.37:g.11284196_11284196dupG	ENSP00000370997:p.Gly149fs		278	0	0		329	0.02	5	NM_182500	15	0	0	A8K9W3|D6W503	Frame_Shift_Ins	INS	ENST00000381585.3	37	CCDS1678.1																																																																																					0.604	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239268.1		NM_182500		G	11284193	-	G	11284192	7	5	96	1	0	1	1	0	0	0	0	0	2174	69	3	0	454	0	C2orf50	2	11284192	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10		11284192	231915181	75	6860											
GEN1	348654	broad.mit.edu	37	chr2	17954019	17954019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccgtacagaacatgatagGcaactcagtgaagtagagaa	17	6	10	8	1	1	4	1	2	0	2	1	5	1	4	1	1	3	3	1	1	7	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:17954019G>T	ENST00000381254.2	+	8	1135	c.921G>T	c.(919-921)agG>agT	p.R307S	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R307S	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	307					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACATGATAGGCAACTCAGTG	0.348								Homologous recombination																													p.R307S													.	GEN1	79		0			c.G921T												83	78	80					2																	17954019		2203	4300	6503	SO:0001583	missense	348654	exon8			TGATAGGCAACTC	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.921G>T	2.37:g.17954019G>T	ENSP00000370653:p.Arg307Ser		179	0	0		259	0.02	5	NM_182625	1	0	0	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721947	0.68959	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.43294	0.95;0.95;0.95	5.63	0.23	0.15372	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.140630	0.45126	D	0.000382	T	0.51839	0.1698	M	0.66939	2.045	0.38267	D	0.942046	D	0.71674	0.998	P	0.61722	0.893	T	0.54159	-0.8335	10	0.72032	D	0.01	-16.0889	7.2031	0.25891	0.3576:0.1113:0.5311:0.0	.	307	Q17RS7	GEN_HUMAN	S	307;307;78	ENSP00000318977:R307S;ENSP00000370653:R307S;ENSP00000431542:R78S	ENSP00000318977:R307S	R	+	3	2	GEN1	17817500	0.982000	0.34865	0.556000	0.28293	0.552000	0.35366	0.146000	0.16180	0.018000	0.15052	0.655000	0.94253	AGG			0.348	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241661.2		NM_182625		T	17954019	G	T	17954019	3	4	96	1	0	0	0	0	1	0	0	0	6349	1194	42	2	947	2	GEN1	2	17954019	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6669827	17954019	225245354	76	6861											
PUM2	23369	broad.mit.edu	37	chr2	20453737	20453737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcagtaaagctctctcaGcacgggaggcatgagtaaca	14	7	10	10	1	3	1	2	1	1	0	4	2	3	2	0	2	3	5	0	2	4	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:20453737G>T	ENST00000361078.2	-	19	2937	c.2915C>A	c.(2914-2916)gCt>gAt	p.A972D	PUM2_ENST00000338086.5_Missense_Mutation_p.A970D|PUM2_ENST00000319801.5_Missense_Mutation_p.A893D|PUM2_ENST00000536417.1_Missense_Mutation_p.A914D|PUM2_ENST00000403432.1_Missense_Mutation_p.A970D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	972	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				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)					AGCTCTCTCAGCACGGGAGGC	0.393																																					p.A970D													.	PUM2	91		0			c.C2909A												145	129	135					2																	20453737		2203	4300	6503	SO:0001583	missense	23369	exon19			CTCTCAGCACGGG	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.2915C>A	2.37:g.20453737G>T	ENSP00000354370:p.Ala972Asp		82	0	0		106	0.03	3	NM_015317	59	0	0	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	G	15.78	2.933429	0.52866	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.056306	0.64402	D	0.000001	T	0.19046	0.0457	L	0.41124	1.26	0.80722	D	1	B;P;B;B	0.40144	0.005;0.704;0.009;0.087	B;P;B;B	0.45377	0.021;0.478;0.026;0.149	T	0.01829	-1.1265	10	0.22109	T	0.4	-9.8985	19.3709	0.94484	0.0:0.0:1.0:0.0	.	914;891;970;972	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	D	970;972;893;782;970;914	ENSP00000338173:A970D;ENSP00000354370:A972D;ENSP00000326746:A893D;ENSP00000409905:A782D;ENSP00000385992:A970D;ENSP00000440093:A914D	ENSP00000326746:A893D	A	-	2	0	PUM2	20317218	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	9.869000	0.99810	2.576000	0.86940	0.655000	0.94253	GCT			0.393	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015317		T	20453737	G	T	20453737	3	4	96	1	0	0	0	0	1	0	0	0	12849	971	34	2	293	2	PUM2	2	20453737	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2499718	20453737	222745636	77	6862											
APOB	338	broad.mit.edu	37	chr2	21232321	21232321	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacactgcaactgtggccttGgtttcctctaaaaacagttt	10	14	7	10	0	1	0	0	0	1	0	2	0	2	0	2	2	4	3	2	2	5	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:21232321G>T	ENST00000233242.1	-	26	7546	c.7419C>A	c.(7417-7419)acC>acA	p.T2473T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2473					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)					CTGTGGCCTTGGTTTCCTCTA	0.418																																					p.T2473T													.	APOB	761		0			c.C7419A												176	171	173					2																	21232321		2203	4300	6503	SO:0001819	synonymous_variant	338	exon26			GGCCTTGGTTTCC	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.7419C>A	2.37:g.21232321G>T			164	0.006097561	1		206	0.03	6	NM_000384	0		0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																					0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1				T	21232321	G	T	21232321	2	4	96	1	0	0	0	0	0	0	0	1	785	1335	47	3		3	APOB	2	21232321	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	778584	21232321	221967052	78	6863											
NCOA1	8648	broad.mit.edu	37	chr2	24952606	24952606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcatgggcatgcagcccagGcaaactctaaacagacctcc	12	5	10	14	0	1	1	0	0	1	1	2	1	2	1	3	3	4	4	3	3	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:24952606G>A	ENST00000406961.1	+	17	3775	c.3123G>A	c.(3121-3123)agG>agA	p.R1041R	NCOA1_ENST00000348332.3_Silent_p.R1041R|NCOA1_ENST00000405141.1_Silent_p.R1041R|NCOA1_ENST00000395856.3_Silent_p.R1041R|NCOA1_ENST00000288599.5_Silent_p.R1041R|NCOA1_ENST00000538539.1_Silent_p.R1041R|NCOA1_ENST00000407230.1_Silent_p.R890R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1041					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)					TGCAGCCCAGGCAAACTCTAA	0.527			T	PAX3	alveolar rhadomyosarcoma																																p.R1041R				Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	NCOA1	210		0			c.G3123A												109	110	110					2																	24952606		2203	4300	6503	SO:0001819	synonymous_variant	8648	exon15			GCCCAGGCAAACT	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.3123G>A	2.37:g.24952606G>A			173	0.0173410405	3		208	0.02	4	NM_147223	8	0	0	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	CCDS1712.1																																																																																					0.527	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000246852.3		NM_147223		A	24952606	G	A	24952606	2	1	96	1	0	0	0	0	0	0	0	1	10245	1194	42	2		2	NCOA1	2	24952606	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3720285	24952606	218246767	79	6864											
IFT172	26160	broad.mit.edu	37	chr2	27688723	27688723	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacctcggtctttcccccGccccgctccagacctataac	7	9	5	20	3	2	1	1	0	1	1	5	1	4	1	7	1	1	1	7	1	2	3	rs373009930		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:27688723G>T	ENST00000260570.3	-	17	1822	c.1719C>A	c.(1717-1719)ggC>ggA	p.G573G		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	573					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCTTTCCCCCGCCCCGCTCCA	0.488																																					p.G573G													.	IFT172	119		0			c.C1719A												316	311	313					2																	27688723		2203	4300	6503	SO:0001819	synonymous_variant	26160	exon17			TCCCCCGCCCCGC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1719C>A	2.37:g.27688723G>T			180	0	0		297	0.01	3	NM_015662	4	0	0	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																					0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250213.2		NM_015662		T	27688723	G	T	27688723	2	4	96	1	0	0	0	0	0	0	0	1	7572	1074	38	1		1	IFT172	2	27688723	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2736117	27688723	215510650	80	6865											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27908039	27908039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaaaagaaaaaactggagGatggaagcctcagtaggcca	18	5	12	6	0	1	2	1	1	0	1	1	5	1	5	2	4	2	1	2	4	7	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:27908039G>T	ENST00000326019.6	+	10	2293	c.2011G>T	c.(2011-2013)Gat>Tat	p.D671Y		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	671	Glu-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AAAACTGGAGGATGGAAGCCT	0.458																																					p.D671Y													.	SLC4A1AP	63		0			c.G2011T												79	81	80					2																	27908039		2203	4300	6503	SO:0001583	missense	22950	exon10			CTGGAGGATGGAA		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.2011G>T	2.37:g.27908039G>T	ENSP00000323837:p.Asp671Tyr		227	0	0		269	0.01	4	NM_018158	126	0	0	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144035	0.57044	.	.	ENSG00000163798	ENST00000326019	T	0.39592	1.07	5.38	1.34	0.21922	.	1.245510	0.05336	N	0.529314	T	0.32823	0.0842	L	0.50333	1.59	0.29169	N	0.877267	P	0.44877	0.845	B	0.34722	0.188	T	0.41627	-0.9498	10	0.62326	D	0.03	-1.4004	4.4741	0.11726	0.1482:0.1252:0.598:0.1287	.	671	Q9BWU0	NADAP_HUMAN	Y	671	ENSP00000323837:D671Y	ENSP00000323837:D671Y	D	+	1	0	SLC4A1AP	27761543	0.018000	0.18449	0.973000	0.42090	0.659000	0.38960	0.756000	0.26419	0.739000	0.32628	0.563000	0.77884	GAT			0.458	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324550.1		NM_018158		T	27908039	G	T	27908039	3	4	96	1	0	0	0	0	1	0	0	0	14676	1174	41	3	2049	3	SLC4A1AP	2	27908039	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	219316	27908039	215291334	81	6866											
THUMPD2	80745	broad.mit.edu	37	chr2	39998751	39998752	+	Frame_Shift_Ins	INS	-	-	A																															tcaaatcagaacaggtggtgINSaaaaaaacctttcctgaaat																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:39998751_39998752insA	ENST00000505747.1	-	2	182_183	c.155_156insT	c.(154-156)ttcfs	p.F52fs	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Frame_Shift_Ins_p.F22fs|THUMPD2_ENST00000260619.6_Frame_Shift_Ins_p.F22fs	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	52							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AACAGGTGGTGAAAAAAACCTT	0.287																																					p.F52fs													.	THUMPD2	35		0			c.156_157insT																																									SO:0001589	frameshift_variant	80745	exon2			GGTGGTGAAAAAA	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"chromosome 2 open reading frame 8"	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.156dupT	2.37:g.39998758_39998758dupA	ENSP00000423933:p.Phe52fs		377	0	0		466	0	0	NM_025264	0		0	A8K7I7|Q53TT8|Q53TV0	Frame_Shift_Ins	INS	ENST00000505747.1	37	CCDS1805.2																																																																																					0.287	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219991.2		NM_025264		A	39998752	-	A	39998751	7	5	96	1	0	1	1	0	0	0	0	0	15906	1281	45	0	1391	0	THUMPD2	2	39998751	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	12090712	39998751	203200622	82	6867											
THADA	63892	broad.mit.edu	37	chr2	43797579	43797579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttggttaactcattctctGgttcacgtttggatttactc	6	19	8	8	1	3	0	2	0	1	0	5	1	3	1	0	3	2	4	0	3	2	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:43797579G>T	ENST00000405006.4	-	14	2486	c.2135C>A	c.(2134-2136)cCa>cAa	p.P712Q	THADA_ENST00000404790.1_Missense_Mutation_p.P712Q|THADA_ENST00000415080.2_Missense_Mutation_p.P422Q|THADA_ENST00000330266.7_Missense_Mutation_p.P422Q|THADA_ENST00000405975.2_Missense_Mutation_p.P712Q|THADA_ENST00000403856.1_Missense_Mutation_p.P712Q|THADA_ENST00000402360.2_Missense_Mutation_p.P712Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	712										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTCATTCTCTGGTTCACGTTT	0.333																																					p.P712Q													.	THADA	131		0			c.C2135A												160	148	152					2																	43797579		1824	4091	5915	SO:0001583	missense	63892	exon14			TTCTCTGGTTCAC	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2135C>A	2.37:g.43797579G>T	ENSP00000385995:p.Pro712Gln		223	0.0179372197	4		301	0.02	6	NM_001083953	4	0	0	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.468|0.468	-0.885708|-0.885708	0.02511|0.02511	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856|ENST00000407351	T;T;T;T;T;T;T|.	0.64803|.	1.35;2.77;2.6;2.77;-0.12;-0.12;1.45|.	5.41|5.41	2.44|2.44	0.29823|0.29823	Armadillo-type fold (1);|.	0.555573|.	0.17691|.	N|.	0.165266|.	T|T	0.27798|0.27798	0.0684|0.0684	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	D;P;B;B;P|.	0.59357|.	0.985;0.859;0.009;0.009;0.779|.	P;B;B;B;B|.	0.51385|.	0.668;0.387;0.022;0.005;0.216|.	T|T	0.26360|0.26360	-1.0105|-1.0105	10|5	0.39692|.	T|.	0.17|.	-6.8213|-6.8213	0.581|0.581	0.00712|0.00712	0.2729:0.1809:0.3609:0.1854|0.2729:0.1809:0.3609:0.1854	.|.	712;712;712;422;712|.	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6|.	.;.;.;.;THADA_HUMAN|.	Q|K	422;712;713;422;712;712;712;712|26	ENSP00000331105:P422Q;ENSP00000386088:P712Q;ENSP00000416048:P422Q;ENSP00000385995:P712Q;ENSP00000385441:P712Q;ENSP00000384266:P712Q;ENSP00000385469:P712Q|.	ENSP00000331105:P422Q|.	P|Q	-|-	2|1	0|0	THADA|THADA	43651083|43651083	0.098000|0.098000	0.21812|0.21812	0.065000|0.065000	0.19835|0.19835	0.004000|0.004000	0.04260|0.04260	1.892000|1.892000	0.39748|0.39748	0.647000|0.647000	0.30713|0.30713	-0.274000|-0.274000	0.10170|0.10170	CCA|CAG			0.333	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326070.3		NM_022065		T	43797579	G	T	43797579	3	4	96	1	0	0	0	0	1	0	0	0	15863	1348	47	3	3826	3	THADA	2	43797579	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3798828	43797579	199401794	83	6868											
EPAS1	2034	broad.mit.edu	37	chr2	46596999	46596999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggttaccaccctgaggaGctgcttggccgctcagccta	7	10	11	13	1	1	1	1	1	0	0	1	2	1	2	4	3	4	4	4	3	2	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:46596999G>T	ENST00000263734.3	+	7	1323	c.813G>T	c.(811-813)gaG>gaT	p.E271D		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	271	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|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)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCCTGAGGAGCTGCTTGGCC	0.488																																					p.E271D													.	EPAS1	83		0			c.G813T												58	51	54					2																	46596999		2203	4300	6503	SO:0001583	missense	2034	exon7			TGAGGAGCTGCTT	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.813G>T	2.37:g.46596999G>T	ENSP00000263734:p.Glu271Asp		165	0	0		264	0.02	4	NM_001430	9	0	0	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668861	0.14776	.	.	ENSG00000116016	ENST00000263734	T	0.19105	2.17	5.65	4.78	0.61160	PAS fold-3 (1);PAS (3);	0.049764	0.85682	D	0.000000	T	0.13329	0.0323	N	0.20445	0.575	0.50467	D	0.999878	B	0.06786	0.001	B	0.08055	0.003	T	0.06023	-1.0850	10	0.09084	T	0.74	.	14.7969	0.69884	0.0692:0.0:0.9308:0.0	.	271	Q99814	EPAS1_HUMAN	D	271	ENSP00000263734:E271D	ENSP00000263734:E271D	E	+	3	2	EPAS1	46450503	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.726000	0.25984	1.392000	0.46585	-0.137000	0.14449	GAG			0.488	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250752.2		NM_001430		T	46596999	G	T	46596999	3	4	96	1	0	0	0	0	1	0	0	0	5157	962	34	2	839	2	EPAS1	2	46596999	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2799420	46596999	196602374	84	6869											
NRXN1	9378	broad.mit.edu	37	chr2	50724692	50724692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacagtaatctatgtcGccatttttacacaggtcaat	12	13	6	10	1	3	0	2	0	1	0	4	0	3	0	1	1	2	2	1	1	4	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:50724692G>A	ENST00000406316.2	-	14	4134	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.G886G|NRXN1_ENST00000401669.2_Silent_p.G886G|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000405472.3_Silent_p.G878G|NRXN1_ENST00000404971.1_Silent_p.G926G|NRXN1_ENST00000402717.3_Silent_p.G878G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	886	Laminin G-like 4. {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)			AATCTATGTCGCCATTTTTAC	0.438																																					p.G926G													.	NRXN1	1118		0			c.C2778T												118	108	111					2																	50724692		1988	4169	6157	SO:0001819	synonymous_variant	9378	exon15			TATGTCGCCATTT	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.2658C>T	2.37:g.50724692G>A			152	0	0		157	0.03	5	NM_001135659	0		0	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																					0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000325291.2				A	50724692	G	A	50724692	2	1	96	1	0	0	0	0	0	0	0	1	10682	1074	38	1		1	NRXN1	2	50724692	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4127693	50724692	192474681	85	6870											
VRK2	7444	broad.mit.edu	37	chr2	58386754	58386754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttagtgaagagacaaacGcagatgtttattattatcgc	13	13	8	7	2	1	3	0	1	1	2	2	4	1	3	0	0	1	2	0	0	6	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:58386754G>T	ENST00000435505.2	+	16	2198	c.1453G>T	c.(1453-1455)Gca>Tca	p.A485S	FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000417641.2_3'UTR|FANCL_ENST00000403295.3_3'UTR|VRK2_ENST00000440705.2_Missense_Mutation_p.A462S|VRK2_ENST00000340157.4_Missense_Mutation_p.A485S|FANCL_ENST00000233741.4_3'UTR|VRK2_ENST00000412104.2_3'UTR			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	485	Interaction with MAP3K7.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AGAGACAAACGCAGATGTTTA	0.358																																					p.A485S													.	VRK2	46		0			c.G1453T												153	155	154					2																	58386754		2203	4300	6503	SO:0001583	missense	7444	exon13			ACAAACGCAGATG	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1453G>T	2.37:g.58386754G>T	ENSP00000408002:p.Ala485Ser		140	0	0		156	0.03	4	NM_001130480	194	0	0	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	7.257	0.604451	0.14002	.	.	ENSG00000028116	ENST00000435505;ENST00000340157;ENST00000440705	T;T;T	0.08193	3.12;3.12;3.13	6.03	-1.76	0.08006	.	0.774396	0.12097	N	0.499820	T	0.07503	0.0189	L	0.58101	1.795	0.09310	N	0.999998	B	0.14438	0.01	B	0.13407	0.009	T	0.36040	-0.9764	10	0.48119	T	0.1	-0.2122	1.9405	0.03345	0.2698:0.1:0.4261:0.2041	.	485	Q86Y07	VRK2_HUMAN	S	485;485;462	ENSP00000408002:A485S;ENSP00000342381:A485S;ENSP00000398323:A462S	ENSP00000342381:A485S	A	+	1	0	VRK2	58240258	0.335000	0.24748	0.000000	0.03702	0.017000	0.09413	-0.040000	0.12104	-1.038000	0.03279	-2.696000	0.00138	GCA			0.358	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325304.2		NM_006296		T	58386754	G	T	58386754	3	4	96	1	0	0	0	0	1	0	0	0	17244	1087	38	1	1512	1	VRK2	2	58386754	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7662062	58386754	184812619	86	6871											
VPS54	51542	broad.mit.edu	37	chr2	64193029	64193029	+	Frame_Shift_Del	DEL	A	A	-																															ccttttccaccagcagtattAaaatgagaccatggtaaaac																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:64193029delA	ENST00000272322.4	-	6	718	c.564delT	c.(562-564)tttfs	p.F188fs	VPS54_ENST00000409558.4_Frame_Shift_Del_p.F176fs|VPS54_ENST00000354504.3_Frame_Shift_Del_p.F71fs			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	188					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CAGCAGTATTAAAATGAGACC	0.318																																					p.F188fs													.	VPS54	57		0			c.564delT												59	64	63					2																	64193029		2203	4300	6503	SO:0001589	frameshift_variant	51542	exon6			AGTATTAAAATGA	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.564delT	2.37:g.64193029delA	ENSP00000272322:p.Phe188fs		412	0	0		639	0.01	5	NM_016516	7	0	0	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Frame_Shift_Del	DEL	ENST00000272322.4	37	CCDS33208.1																																																																																					0.318	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327062.2		NM_016516		-	64193029	A	-	64193029	7	5	96	1	0	1	0	1	0	0	0	0	17240	359	13	0	2441	0	VPS54	2	64193029	Frame_Shift_Del	DEL	A	TCGA-VF-A8A8-01A-11D-A435-10	5806275	64193029	179006344	87	6872											
VAX2	25806	broad.mit.edu	37	chr2	71148283	71148283	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagggcctggacctggaccgGcccaagcggacacgtacatc	10	4	13	14	3	0	0	0	0	0	0	1	3	0	3	4	5	2	1	4	5	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:71148283G>T	ENST00000234392.2	+	2	335	c.303G>T	c.(301-303)cgG>cgT	p.R101R		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	101					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						ACCTGGACCGGCCCAAGCGGA	0.592																																					p.R101R													.	VAX2	27		0			c.G303T												44	41	42					2																	71148283		2203	4300	6503	SO:0001819	synonymous_variant	25806	exon2			GGACCGGCCCAAG	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"Homeoboxes / ANTP class : NKL subclass"	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.303G>T	2.37:g.71148283G>T			220	0.0045454545	1		308	0.01	3	NM_012476	0		0	Q53Y33	Silent	SNP	ENST00000234392.2	37	CCDS1911.1																																																																																					0.592	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251923.1				T	71148283	G	T	71148283	2	4	96	1	0	0	0	0	0	0	0	1	17159	1190	42	2		2	VAX2	2	71148283	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6955254	71148283	172051090	88	6873											
ATP6V1B1	525	broad.mit.edu	37	chr2	71190761	71190761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagggacagatctacgtgGacagacagcttcacaacaga	15	5	11	10	1	2	4	1	0	1	4	2	6	2	6	0	2	3	1	0	2	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:71190761G>T	ENST00000234396.4	+	11	1193	c.1120G>T	c.(1120-1122)Gac>Tac	p.D374Y	RN7SL160P_ENST00000468558.2_RNA|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.D357Y|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	374					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)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GATCTACGTGGACAGACAGCT	0.552																																					p.D374Y													.	ATP6V1B1	66		0			c.G1120T												170	124	139					2																	71190761		2203	4300	6503	SO:0001583	missense	525	exon11			TACGTGGACAGAC	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.1120G>T	2.37:g.71190761G>T	ENSP00000234396:p.Asp374Tyr		221	0.0090497738	2		333	0.02	6	NM_001692	0		0	Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327316	0.81690	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	D;D	0.83075	-1.68;-1.68	4.73	4.73	0.59995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.93465	0.7915	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.986;0.995;0.988	D	0.95161	0.8281	10	0.87932	D	0	-1.8848	15.2381	0.73447	0.0:0.0:1.0:0.0	.	349;357;374	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	Y	374;349;357	ENSP00000234396:D374Y;ENSP00000388353:D357Y	ENSP00000234396:D374Y	D	+	1	0	ATP6V1B1	71044269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.603000	0.98315	2.470000	0.83445	0.655000	0.94253	GAC			0.552	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251920.2		NM_001692		T	71190761	G	T	71190761	3	4	96	1	0	0	0	0	1	0	0	0	1178	1174	41	3	1162	3	ATP6V1B1	2	71190761	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	42478	71190761	172008612	89	6874											
ALMS1	7840	broad.mit.edu	37	chr2	73676896	73676896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaagtttcagccttccctgGaccagctgaccagatgactg	10	9	10	12	0	1	3	1	2	0	1	2	5	2	4	4	1	2	2	4	1	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:73676896G>T	ENST00000264448.6	+	8	3350	c.3239G>T	c.(3238-3240)gGa>gTa	p.G1080V	ALMS1_ENST00000409009.1_Missense_Mutation_p.G1038V|ALMS1_ENST00000377715.1_Missense_Mutation_p.G1080V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1080	34 X 47 AA approximate tandem repeat.				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						GCCTTCCCTGGACCAGCTGAC	0.478																																					p.G1080V													.	ALMS1	384		0			c.G3239T												105	109	108					2																	73676896		1932	4130	6062	SO:0001583	missense	7840	exon8			TCCCTGGACCAGC	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.3239G>T	2.37:g.73676896G>T	ENSP00000264448:p.Gly1080Val		176	0	0		253	0.02	4	NM_015120	2	0	0	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891197	0.33442	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19532	3.02;3.02;2.14	4.39	-0.926	0.10455	.	1.379630	0.04679	N	0.412052	T	0.35307	0.0927	L	0.52905	1.665	0.09310	N	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74674	0.982;0.984;0.967	T	0.21348	-1.0248	10	0.39692	T	0.17	.	3.0627	0.06204	0.278:0.0:0.4014:0.3206	.	1080;1038;1080	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	1038;1080;1080	ENSP00000386627:G1038V;ENSP00000264448:G1080V;ENSP00000366944:G1080V	ENSP00000264448:G1080V	G	+	2	0	ALMS1	73530404	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.246000	0.08878	-0.174000	0.10743	0.591000	0.81541	GGA			0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000327776.1		NM_015120		T	73676896	G	T	73676896	3	4	96	1	0	0	0	0	1	0	0	0	535	1174	41	3	3269	3	ALMS1	2	73676896	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2486135	73676896	169522477	90	6875											
WDR54	84058	broad.mit.edu	37	chr2	74649360	74649360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtgtgctgcagctgcCggctcgcaacctcacgtatt	6	10	10	15	3	2	0	2	0	0	0	3	0	2	0	3	1	5	6	3	1	2	2	rs138696895	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:74649360C>T	ENST00000348227.4	+	2	168	c.80C>T	c.(79-81)cCg>cTg	p.P27L	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	27										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CTGCAGCTGCCGGCTCGCAAC	0.662																																					p.P27L													.	WDR54	17		0			c.C80T												53	52	52					2																	74649360		2203	4300	6503	SO:0001583	missense	84058	exon2			AGCTGCCGGCTCG	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.80C>T	2.37:g.74649360C>T	ENSP00000006526:p.Pro27Leu		131	0	0		199	0.03	5	NM_032118	96	0.01	1	D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074490	0.76415	.	.	ENSG00000005448	ENST00000426787;ENST00000348227	.	.	.	5.37	5.37	0.77165	.	0.060557	0.64402	D	0.000002	T	0.40546	0.1121	L	0.29908	0.895	0.58432	D	0.999999	D	0.54772	0.968	B	0.38156	0.266	T	0.43877	-0.9364	9	0.51188	T	0.08	-21.2632	16.0149	0.80430	0.0:1.0:0.0:0.0	.	27	Q9H977	WDR54_HUMAN	L	27	.	ENSP00000006526:P27L	P	+	2	0	WDR54	74502868	0.998000	0.40836	0.663000	0.29738	0.982000	0.71751	4.527000	0.60573	2.518000	0.84900	0.511000	0.50034	CCG			0.662	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252213.1		NM_032118		T	74649360	C	T	74649360	3	4	96	1	0	0	0	0	1	0	0	0	17330	652	23	1	82	1	WDR54	2	74649360	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	972464	74649360	168550013	91	6876											
C2orf3	6936	broad.mit.edu;mdanderson.org	37	chr2	75937788	75937788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacccggccccggccaCgagggccccgaacccggtgg	6	1	14	20	5	0	1	0	0	0	1	0	3	0	1	8	5	1	0	8	5	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:75937788C>T	ENST00000321027.3	-	1	327	c.194G>A	c.(193-195)cGt>cAt	p.R65H	GCFC2_ENST00000409857.3_Missense_Mutation_p.R65H|GCFC2_ENST00000541687.1_Missense_Mutation_p.R65H|GCFC2_ENST00000470503.1_Missense_Mutation_p.R65H	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	65					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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)										GCCCCGGCCACGAGGGCCCCG	0.756																																					p.R65H													.	.			0			c.G194A												2	3	2					2																	75937788		1525	3387	4912	SO:0001583	missense	6936	exon1			CGGCCACGAGGGC	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.194G>A	2.37:g.75937788C>T	ENSP00000318690:p.Arg65His		12	0	0		13	0.15	2	NM_001201335	6	0	0	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888979	0.72524	.	.	ENSG00000005436	ENST00000321027;ENST00000541687;ENST00000409857;ENST00000442309	T;T;T;T	0.43688	1.95;0.94;1.83;1.07	3.16	3.16	0.36331	.	0.880319	0.09698	N	0.767361	T	0.57607	0.2065	M	0.64997	1.995	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.96;0.98	T	0.43081	-0.9413	10	0.24483	T	0.36	-3.0871	10.055	0.42239	0.0:1.0:0.0:0.0	.	65;65	A4UHQ8;P16383	.;GCF_HUMAN	H	65	ENSP00000318690:R65H;ENSP00000437767:R65H;ENSP00000386552:R65H;ENSP00000415831:R65H	ENSP00000318690:R65H	R	-	2	0	C2orf3	75791296	0.975000	0.34042	0.174000	0.22961	0.004000	0.04260	1.480000	0.35464	2.104000	0.64026	0.555000	0.69702	CGT			0.756	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252255.2		NM_003203		T	75937788	C	T	75937788	3	4	96	1	0	0	0	0	1	0	0	0	2164	536	19	1	2219	1	C2orf3	2	75937788	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1288428	75937788	167261585	92	6877											
USP39	10713	broad.mit.edu	37	chr2	85843583	85843583	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggagcctgagcgggaggtgCgaggtgcgcggggccgggcc	4	3	23	11	6	0	1	0	1	0	0	0	4	0	3	3	7	4	0	3	7	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:85843583C>T	ENST00000323701.6	+	1	275	c.265C>T	c.(265-267)Cga>Tga	p.R89*	USP39_ENST00000409470.1_Nonsense_Mutation_p.R89*|USP39_ENST00000450066.2_Intron|USP39_ENST00000409766.3_Nonsense_Mutation_p.R89*|USP39_ENST00000459775.1_Intron|USP39_ENST00000409025.1_Nonsense_Mutation_p.R89*	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	89	Arg-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCGGGAGGTGCGAGGTGCGCG	0.667																																					p.R89X													.	USP39	33		0			c.C265T												6	8	8					2																	85843583		1948	4019	5967	SO:0001587	stop_gained	10713	exon1			GAGGTGCGAGGTG	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.265C>T	2.37:g.85843583C>T	ENSP00000312981:p.Arg89*		172	0	0		229	0.01	3	NM_001256725	58	0	0	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Nonsense_Mutation	SNP	ENST00000323701.6	37	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	C	37	6.485059	0.97603	.	.	ENSG00000168883	ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	.	.	.	5.1	5.1	0.69264	.	0.452154	0.22107	N	0.064539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-5.6308	13.8872	0.63714	0.0:1.0:0.0:0.0	.	.	.	.	X	89	.	ENSP00000312981:R89X	R	+	1	2	USP39	85697094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.371000	0.34250	2.664000	0.90586	0.561000	0.74099	CGA			0.667	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329892.1		NM_006590		T	85843583	C	T	85843583	4	4	96	1	0	0	0	0	0	1	0	0	17094	760	27	1	267	1	USP39	2	85843583	Nonsense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	9905795	85843583	157355790	93	6878											
MRPS5	64969	broad.mit.edu	37	chr2	95780894	95780894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattgtgtctgcagtgcaCggctcaagctggcgtaggga	8	9	15	9	2	2	0	1	0	1	0	2	1	2	1	0	3	4	6	0	3	2	2	rs201430985		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:95780894C>T	ENST00000272418.2	-	3	402	c.194G>A	c.(193-195)cGt>cAt	p.R65H	MRPS5_ENST00000475040.1_5'UTR	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	65					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						CTGCAGTGCACGGCTCAAGCT	0.468											OREG0014795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R65H													.	MRPS5	52		0			c.G194A												169	151	158					2																	95780894		2203	4300	6503	SO:0001583	missense	64969	exon3			AGTGCACGGCTCA	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.194G>A	2.37:g.95780894C>T	ENSP00000272418:p.Arg65His		196	0.0051020408	1	1315	251	0.02	5	NM_031902	257	0	0	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	8.504	0.865023	0.17250	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	-10.2	0.00374	.	0.736452	0.13333	N	0.395764	T	0.10078	0.0247	N	0.03177	-0.4	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.29852	-0.9998	9	0.12430	T	0.62	0.1042	8.8951	0.35458	0.0:0.518:0.2488:0.2332	.	65;65	B4DIW8;P82675	.;RT05_HUMAN	H	65	.	ENSP00000272418:R65H	R	-	2	0	MRPS5	95144621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.313000	0.02718	-1.622000	0.01560	-1.264000	0.01445	CGT			0.468	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252772.1		NM_031902		T	95780894	C	T	95780894	3	4	96	1	0	0	0	0	1	0	0	0	9862	536	19	1	1138	1	MRPS5	2	95780894	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	9937311	95780894	147418479	94	6879											
FAHD2A	51011	broad.mit.edu	37	chr2	96078220	96078220	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgctgccgagtgaatgggGaagtggtccagagcggcaac	9	7	16	9	2	1	2	0	1	1	1	2	4	2	3	2	4	4	2	2	4	3	0	rs376463411		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:96078220G>T	ENST00000233379.4	+	6	877	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	FAHD2A_ENST00000447036.1_Nonsense_Mutation_p.E242*	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	242							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						AGTGAATGGGGAAGTGGTCCA	0.522																																					p.E242X													.	FAHD2A	25		0			c.G724T												113	110	111					2																	96078220		2203	4300	6503	SO:0001587	stop_gained	51011	exon6			AATGGGGAAGTGG	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.724G>T	2.37:g.96078220G>T	ENSP00000233379:p.Glu242*		184	0	0		212	0.02	4	NM_016044	223	0	0	Q9Y3B0	Nonsense_Mutation	SNP	ENST00000233379.4	37	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687741	0.88639	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	.	.	.	3.38	3.38	0.38709	.	0.289894	0.32640	N	0.005826	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	12.5845	0.56410	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000233379:E242X	E	+	1	0	FAHD2A	95441947	1.000000	0.71417	0.961000	0.40146	0.915000	0.54546	3.955000	0.56715	1.876000	0.54355	0.491000	0.48974	GAA			0.522	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252778.1		NM_016044		T	96078220	G	T	96078220	4	4	96	1	0	0	0	0	0	1	0	0	5383	1175	41	3	742	3	FAHD2A	2	96078220	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	297326	96078220	147121153	95	6880											
SNRNP200	23020	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	96940775	96940775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatcactgtctgtctcaGcttctttcacatccacgctg	7	14	6	14	1	5	1	3	1	3	0	7	1	6	1	1	0	1	2	1	0	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:96940775G>C	ENST00000323853.5	-	45	6463	c.6386C>G	c.(6385-6387)gCt>gGt	p.A2129G	SNRNP200_ENST00000349783.5_Missense_Mutation_p.A618G	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2129					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTCTGTCTCAGCTTCTTTCAC	0.468																																					p.A2129G													.	SNRNP200	195		0			c.C6386G												176	160	165					2																	96940775		2203	4300	6503	SO:0001583	missense	23020	exon45			GTCTCAGCTTCTT	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.6386C>G	2.37:g.96940775G>C	ENSP00000317123:p.Ala2129Gly		108	0.0092592593	1		146	0.32	46	NM_014014	1175	0.03	41	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	9.620	1.133558	0.21041	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000536601;ENST00000543553	T;T	0.68331	-0.32;1.47	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	L	0.28400	0.85	0.36555	D	0.872088	B	0.02656	0.0	B	0.01281	0.0	T	0.51919	-0.8644	10	0.02654	T	1	-11.397	16.5621	0.84569	0.0:0.0:1.0:0.0	.	2129	O75643	U520_HUMAN	G	2129;618;588;712	ENSP00000317123:A2129G;ENSP00000326937:A618G	ENSP00000317123:A2129G	A	-	2	0	SNRNP200	96304502	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.525000	0.98039	2.489000	0.83994	0.650000	0.86243	GCT			0.468	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252846.2		NM_014014		C	96940775	G	C	96940775	3	2	96	1	0	0	0	0	1	0	0	0	14875	971	34	5	28	5	SNRNP200	2	96940775	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	862555	96940775	146258598	96	6881											
RPL31	6160	broad.mit.edu	37	chr2	101619185	101619185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcccgcaaagaagggtGgcgagaagaaaaagggccgt	13	4	16	8	3	0	3	0	0	0	3	1	4	1	3	2	4	0	2	2	4	5	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:101619185G>T	ENST00000264258.3	+	2	623	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C	RPL31_ENST00000409028.4_Missense_Mutation_p.G8C|AC016738.4_ENST00000452364.1_RNA|RPL31_ENST00000409711.1_Missense_Mutation_p.G8C|RPL31_ENST00000409733.1_Missense_Mutation_p.G8C|RPL31_ENST00000409650.1_Missense_Mutation_p.G8C|RPL31_ENST00000409320.3_Missense_Mutation_p.G8C|RPL31_ENST00000409000.1_Missense_Mutation_p.G8C|RPL31_ENST00000409038.1_Missense_Mutation_p.G8C	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	8					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)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AAAGAAGGGTGGCGAGAAGAA	0.527																																					p.G8C													.	RPL31	12		0			c.G22T												63	60	61					2																	101619185		2203	4300	6503	SO:0001583	missense	6160	exon2			AAGGGTGGCGAGA	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"L ribosomal proteins"	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.22G>T	2.37:g.101619185G>T	ENSP00000264258:p.Gly8Cys		187	0	0		272	0.03	7	NM_001098577	19778	0	12	B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	ENST00000264258.3	37	CCDS2049.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389871	0.82902	.	.	ENSG00000071082	ENST00000264258;ENST00000409000;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292;ENST00000409711	.	.	.	5.38	4.5	0.54988	.	0.143974	0.44483	U	0.000448	T	0.82089	0.4961	M	0.92555	3.32	0.36426	D	0.864608	D;D;D;D;D;D	0.76494	0.99;0.97;0.999;0.982;0.989;0.998	D;P;D;P;P;D	0.70227	0.968;0.554;0.954;0.895;0.841;0.968	D	0.88923	0.3367	9	0.87932	D	0	.	12.345	0.55116	0.1399:0.0:0.8601:0.0	.	8;8;8;8;8;8	B7Z4E3;B7Z4C8;B7Z4K2;B8ZZK4;Q6IRZ0;P62899	.;.;.;.;.;RL31_HUMAN	C	8	.	ENSP00000264258:G8C	G	+	1	0	RPL31	100985617	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.325000	0.65869	1.498000	0.48600	0.655000	0.94253	GGC			0.527	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253182.3		NM_001098577		T	101619185	G	T	101619185	3	4	96	1	0	0	0	0	1	0	0	0	13604	1348	47	3	24	3	RPL31	2	101619185	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4678410	101619185	141580188	97	6882											
FBLN7	129804	broad.mit.edu	37	chr2	112922735	112922735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctggacaggggagcaGccccactgtagaggtatcgt	9	6	15	11	1	0	1	0	0	0	1	1	3	0	3	3	5	2	4	3	5	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:112922735G>T	ENST00000331203.2	+	3	664	c.393G>T	c.(391-393)caG>caT	p.Q131H	FBLN7_ENST00000409450.3_Missense_Mutation_p.Q131H|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409903.1_Missense_Mutation_p.Q131H|FBLN7_ENST00000409667.3_Missense_Mutation_p.Q131H	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	131	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGGGAGCAGCCCCACTGTA	0.562																																					p.Q131H													.	FBLN7	49		0			c.G393T												83	76	78					2																	112922735		2203	4300	6503	SO:0001583	missense	129804	exon3			GGAGCAGCCCCAC		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.393G>T	2.37:g.112922735G>T	ENSP00000331411:p.Gln131His		191	0	0		260	0.02	4	NM_153214	3	0	0	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501186	0.44455	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450	T;T;D;T	0.81996	-0.17;-0.17;-1.56;-0.17	5.36	3.21	0.36854	Complement control module (2);Sushi/SCR/CCP (3);	0.437967	0.25572	N	0.029749	D	0.84719	0.5534	M	0.80616	2.505	0.30296	N	0.789958	P;P;P;P	0.52577	0.856;0.697;0.858;0.954	B;B;P;P	0.51355	0.346;0.232;0.667;0.663	T	0.80741	-0.1247	10	0.37606	T	0.19	-9.8659	6.2828	0.21017	0.1852:0.2564:0.5584:0.0	.	131;131;131;131	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	H	131	ENSP00000331411:Q131H;ENSP00000386295:Q131H;ENSP00000386822:Q131H;ENSP00000387000:Q131H	ENSP00000331411:Q131H	Q	+	3	2	FBLN7	112639206	0.682000	0.27624	1.000000	0.80357	0.988000	0.76386	0.345000	0.19979	1.269000	0.44280	0.655000	0.94253	CAG			0.562	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330505.1		NM_153214		T	112922735	G	T	112922735	3	4	96	1	0	0	0	0	1	0	0	0	5714	962	34	2	403	2	FBLN7	2	112922735	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	11303550	112922735	130276638	98	6883											
PSD4	23550	broad.mit.edu	37	chr2	113953723	113953723	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgattctctgatgttcaGggatgaagaagacacagcca	12	8	11	10	1	2	4	1	2	1	2	3	6	2	5	2	1	1	1	2	1	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:113953723G>T	ENST00000245796.6	+	12	2420		c.e12-1		PSD4_ENST00000441564.3_Splice_Site	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGATGTTCAGGGATGAAGAA	0.552																																					.													.	PSD4	74		0			c.2226-1G>T												82	76	78					2																	113953723		2203	4300	6503	SO:0001630	splice_region_variant	23550	exon12			TGTTCAGGGATGA	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2226-1G>T	2.37:g.113953723G>T			200	0	0		315	0.01	3	NM_012455	0		0	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Splice_Site	SNP	ENST00000245796.6	37	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145839	0.57044	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5377	0.84377	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSD4	113670194	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.359000	0.73060	2.526000	0.85167	0.655000	0.94253	.			0.552	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330789.1		NM_012455	Intron	T	113953723	G	T	113953723	5	4	96	1	0	0	0	0	0	0	1	0	12669	1014	35	3	2267	3	PSD4	2	113953723	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1030988	113953723	129245650	99	6884											
POTEE	445582	broad.mit.edu	37	chr2	131981234	131981234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaactcctgctggacagacGatgtcaacttaatgtccttg	12	11	8	10	1	1	1	1	0	0	1	3	3	3	2	2	1	3	1	2	1	4	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:131981234G>A	ENST00000356920.5	+	2	681	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	POTEE_ENST00000358087.5_Missense_Mutation_p.R196Q|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	196					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CTGGACAGACGATGTCAACTT	0.413																																					p.R196Q													.	.			0			c.G587A												1	1	1					2																	131981234		750	1838	2588	SO:0001583	missense	445582	exon2			ACAGACGATGTCA	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.587G>A	2.37:g.131981234G>A	ENSP00000439189:p.Arg196Gln		409	0.0048899756	2		591	0.02	10	NM_001083538	0		0	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163504	0.38217	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;D	0.82803	0.68;-1.65	1.16	-0.347	0.12617	Ankyrin repeat-containing domain (3);	0.674489	0.12697	N	0.446625	T	0.67859	0.2938	L	0.29908	0.895	0.22112	N	0.999354	B	0.14805	0.011	B	0.01281	0.0	T	0.53479	-0.8433	10	0.40728	T	0.16	.	3.1756	0.06567	0.7273:0.0:0.2727:0.0	.	196	Q6S8J3	POTEE_HUMAN	Q	196	ENSP00000439189:R196Q;ENSP00000443049:R196Q	ENSP00000439189:R196Q	R	+	2	0	AC131180.1	131697704	0.995000	0.38212	0.001000	0.08648	0.332000	0.28634	1.260000	0.32968	-0.035000	0.13691	-1.252000	0.01501	CGA			0.413	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001083538		A	131981234	G	A	131981234	3	1	96	1	0	0	0	0	1	0	0	0	12281	1058	37	1	593	1	POTEE	2	131981234	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	18027511	131981234	111218139	100	6885											
UBXN4	23190	broad.mit.edu	37	chr2	136537757	136537757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttattaatttctaggcagGaagaccaactgcatccattg	12	13	8	8	0	1	1	0	0	1	1	2	2	2	2	2	2	2	3	2	2	5	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:136537757G>T	ENST00000272638.9	+	12	1501	c.1190G>T	c.(1189-1191)gGa>gTa	p.G397V	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	397					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTCTAGGCAGGAAGACCAACT	0.423																																					p.G397V													.	UBXN4	54		0			c.G1190T												139	126	130					2																	136537757		1892	4129	6021	SO:0001583	missense	23190	exon12			AGGCAGGAAGACC	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1190G>T	2.37:g.136537757G>T	ENSP00000272638:p.Gly397Val		170	0.0058823529	1		174	0.02	3	NM_014607	56	0	0	A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444409	0.83993	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.47869	0.83	4.88	4.88	0.63580	.	0.106962	0.64402	D	0.000004	T	0.66848	0.2831	M	0.75447	2.3	0.80722	D	1	D	0.65815	0.995	D	0.66602	0.945	T	0.63629	-0.6594	10	0.25751	T	0.34	.	18.2266	0.89918	0.0:0.0:1.0:0.0	.	397	Q92575	UBXN4_HUMAN	V	397;379	ENSP00000272638:G397V	ENSP00000272638:G397V	G	+	2	0	UBXN4	136254227	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.225000	0.72271	2.545000	0.85829	0.555000	0.69702	GGA			0.423	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331696.1		NM_014607		T	136537757	G	T	136537757	3	4	96	1	0	0	0	0	1	0	0	0	16940	1174	41	3	1236	3	UBXN4	2	136537757	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4556523	136537757	106661616	101	6886											
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	141294207	141294207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggaatgccatcacaggTgagctggtagtcaatgcact	11	9	13	8	0	2	2	2	2	0	0	2	3	2	3	1	3	3	3	1	3	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:141294207T>C	ENST00000389484.3	-	46	8556	c.7585A>G	c.(7585-7587)Acc>Gcc	p.T2529A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2529	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCACAGGTGAGCTGGTAG	0.383										TSP Lung(27;0.18)																											p.T2529A	Colon(99;50 2074 2507 20106)												LRP1B,NS,carcinoma,+2,1	LRP1B	2	1	0			c.A7585G												133	129	130					2																	141294207		2203	4300	6503	SO:0001583	missense	53353	exon46			CACAGGTGAGCTG	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.7585A>G	2.37:g.141294207T>C	ENSP00000374135:p.Thr2529Ala		288	0	0		281	0.37	105	NM_018557	0		0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345429	0.82022	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95205	-3.64	5.19	5.19	0.71726	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	L	0.37750	1.13	0.45239	D	0.99824	P	0.40660	0.726	B	0.42138	0.377	D	0.88507	0.3086	10	0.24483	T	0.36	.	10.8882	0.46978	0.1407:0.0:0.0:0.8593	.	2529	Q9NZR2	LRP1B_HUMAN	A	2529;2467	ENSP00000374135:T2529A	ENSP00000374135:T2529A	T	-	1	0	LRP1B	141010677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.114000	0.71560	1.967000	0.57214	0.528000	0.53228	ACC			0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254736.2		NM_018557		C	141294207	T	C	141294207	3	2	96	1	0	0	0	0	1	0	0	0	8971	1696	59	4	6398	4	LRP1B	2	141294207	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	4756450	141294207	101905166	102	6887											
PKP4	8502	mdanderson.org	37	chr2	159499039	159499039	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatctggttgaccttctGgaccacagagttttggaagt	10	12	11	8	0	2	2	0	1	2	1	2	4	2	4	2	3	1	3	2	3	2	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:159499039G>T	ENST00000389759.3	+	11	1849	c.1737G>T	c.(1735-1737)ctG>ctT	p.L579L	PKP4_ENST00000389757.3_Silent_p.L579L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	579					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						TTGACCTTCTGGACCACAGAG	0.398										HNSCC(62;0.18)																											p.L579L													.	.			0			c.G1737T												124	126	126					2																	159499039		2203	4300	6503	SO:0001819	synonymous_variant	8502	exon11			CCTTCTGGACCAC	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.1737G>T	2.37:g.159499039G>T			103	0	0		113	0.04	5	NM_001005476	13	0	0	Q86W91	Silent	SNP	ENST00000389759.3	37	CCDS33305.1																																																																																					0.398	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333250.1				T	159499039	G	T	159499039	2	4	96	1	0	0	0	0	0	0	0	1	12004	1335	47	3		3	PKP4	2	159499039	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	18204832	159499039	83700334	103	6888											
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	170096096	170096096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtatcacacgagcacCggaaagaacctctcatattg	13	8	8	12	2	2	1	2	0	1	1	3	3	2	2	3	1	3	2	3	1	4	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:170096096C>T	ENST00000263816.3	-	26	4520	c.4235G>A	c.(4234-4236)cGg>cAg	p.R1412Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1412	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACACGAGCACCGGAAAGAACC	0.428																																					p.R1412Q													LRP2,colon,carcinoma,-1,1	LRP2	-1	1	0			c.G4235A												144	132	136					2																	170096096		2203	4300	6503	SO:0001583	missense	4036	exon26			GAGCACCGGAAAG		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.4235G>A	2.37:g.170096096C>T	ENSP00000263816:p.Arg1412Gln		279	0	0		312	0.1	31	NM_004525	0		0	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277577	0.80580	.	.	ENSG00000081479	ENST00000263816	D	0.86865	-2.18	5.54	5.54	0.83059	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	N	0.11651	0.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86707	0.1933	10	0.27082	T	0.32	.	19.4777	0.94995	0.0:1.0:0.0:0.0	.	1412	P98164	LRP2_HUMAN	Q	1412	ENSP00000263816:R1412Q	ENSP00000263816:R1412Q	R	-	2	0	LRP2	169804342	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	7.770000	0.85390	2.592000	0.87571	0.650000	0.86243	CGG			0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255231.2		NM_004525		T	170096096	C	T	170096096	3	4	96	1	0	0	0	0	1	0	0	0	8972	652	23	1	9948	1	LRP2	2	170096096	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	10597057	170096096	73103277	104	6889											
TTN	7273	broad.mit.edu	37	chr2	179430994	179430994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagaccaagtgatctcaGgcgttggacgacctttgaat	10	10	11	10	3	1	3	1	2	1	1	3	6	1	4	2	2	0	1	2	2	2	2	rs532706350		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:179430994G>T	ENST00000591111.1	-	276	75166	c.74942C>A	c.(74941-74943)cCt>cAt	p.P24981H	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17682H|TTN_ENST00000342992.6_Missense_Mutation_p.P24054H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P26622H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17557H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17749H|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24981	Ig-like 123.				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)			AGTGATCTCAGGCGTTGGACG	0.418																																					p.P26622H													.	TTN	18412		0			c.C79865A												157	152	153					2																	179430994		1916	4145	6061	SO:0001583	missense	7273	exon326			ATCTCAGGCGTTG	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.74942C>A	2.37:g.179430994G>T	ENSP00000465570:p.Pro24981His		132	0	0		183	0.02	4	NM_001267550	0		0	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		.	.	.	.	.	.	.	.	.	.	G	14.13	2.442139	0.43326	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.91	5.91	0.95273	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92964	0.7761	H	0.99117	4.435	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	0.95263	0.8370	9	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	17557;17682;17749;24981	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24054;17557;17749;17682;17555	ENSP00000343764:P24054H;ENSP00000434586:P17557H;ENSP00000340554:P17749H;ENSP00000352154:P17682H	ENSP00000340554:P17749H	P	-	2	0	TTN	179139240	1.000000	0.71417	0.951000	0.38953	0.989000	0.77384	9.807000	0.99171	2.809000	0.96659	0.555000	0.69702	CCT			0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		T	179430994	G	T	179430994	3	4	96	1	0	0	0	0	1	0	0	0	16759	1000	35	3	28262	3	TTN	2	179430994	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	9334898	179430994	63768379	105	6890											
FSIP2	401024	broad.mit.edu	37	chr2	186672907	186672907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggctttttaatggtgaatGcaatttcgaattctgaattt	11	18	8	4	1	1	2	0	2	1	0	2	3	1	2	0	2	1	2	0	2	6	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:186672907G>A	ENST00000424728.1	+	17	18874	c.18874G>A	c.(18874-18876)Gca>Aca	p.A6292T	FSIP2_ENST00000343098.5_Missense_Mutation_p.A6381T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6292										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATGGTGAATGCAATTTCGAA	0.323																																					p.A6381T													.	FSIP2	251		0			c.G19141A												46	43	44					2																	186672907		1815	4068	5883	SO:0001583	missense	401024	exon17			GTGAATGCAATTT	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.18874G>A	2.37:g.186672907G>A	ENSP00000401306:p.Ala6292Thr		406	0.0049261084	2		458	0.02	9	NM_173651	0		0	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	G	15.17	2.754062	0.49362	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44482	0.92;0.93	5.3	5.3	0.74995	.	0.111425	0.40064	N	0.001190	T	0.37156	0.0993	N	0.22421	0.69	0.25763	N	0.984929	.	.	.	.	.	.	T	0.30592	-0.9973	8	0.39692	T	0.17	.	14.3344	0.66578	0.0:0.0:1.0:0.0	.	.	.	.	T	6381;6292	ENSP00000344403:A6381T;ENSP00000401306:A6292T	ENSP00000344403:A6381T	A	+	1	0	FSIP2	186381152	1.000000	0.71417	0.884000	0.34674	0.120000	0.20174	3.251000	0.51453	2.758000	0.94735	0.655000	0.94253	GCA			0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000332778.3		NM_173651		A	186672907	G	A	186672907	3	1	96	1	0	0	0	0	1	0	0	0	6088	1319	46	2	19207	2	FSIP2	2	186672907	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7241913	186672907	56526466	106	6891											
COQ10B	80219	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	198334798	198334798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattttgttgtaggcatCttgtactgatgggagacttt	7	19	10	5	0	2	2	1	1	1	1	2	3	2	2	0	2	1	4	0	2	2	8			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:198334798C>A	ENST00000263960.2	+	4	590	c.452C>A	c.(451-453)tCt>tAt	p.S151Y	COQ10B_ENST00000409398.1_Missense_Mutation_p.S101Y|COQ10B_ENST00000409010.1_Missense_Mutation_p.S123Y|COQ10B_ENST00000545340.1_Missense_Mutation_p.S108Y	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	151						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTAGGCATCTTGTACTGAT	0.368																																					p.S151Y													.	COQ10B	18		0			c.C452A												160	141	148					2																	198334798		2203	4300	6503	SO:0001583	missense	80219	exon4			AGGCATCTTGTAC	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"coenzyme Q10 homolog B (yeast)"				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.452C>A	2.37:g.198334798C>A	ENSP00000263960:p.Ser151Tyr		186	0.0053763441	1		211	0.05	11	NM_025147	33	0.03	1	B7Z1Y4	Missense_Mutation	SNP	ENST00000263960.2	37	CCDS2319.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230250	0.79688	.	.	ENSG00000115520	ENST00000263960;ENST00000409398;ENST00000545340;ENST00000409010	T;T;T;T	0.45668	1.87;0.89;1.88;1.89	5.25	5.25	0.73442	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.70595	2.14	0.53005	D	0.999962	D;D	0.57571	0.973;0.98	P;P	0.56163	0.722;0.793	T	0.59380	-0.7465	10	0.59425	D	0.04	12.2067	12.2335	0.54500	0.0:0.9218:0.0:0.0782	.	123;151	B8ZZV9;Q9H8M1	.;CQ10B_HUMAN	Y	151;101;108;123	ENSP00000263960:S151Y;ENSP00000386785:S101Y;ENSP00000442520:S108Y;ENSP00000387223:S123Y	ENSP00000263960:S151Y	S	+	2	0	COQ10B	198043043	0.999000	0.42202	0.998000	0.56505	0.975000	0.68041	4.054000	0.57434	2.451000	0.82905	0.650000	0.86243	TCT			0.368	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256105.2		NM_025147		A	198334798	C	A	198334798	3	1	96	1	0	0	0	0	1	0	0	0	3746	913	32	3	466	3	COQ10B	2	198334798	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	11661891	198334798	44864575	107	6892											
SGOL2	151246	broad.mit.edu	37	chr2	201399866	201399867	+	Frame_Shift_Ins	INS	-	-	A																															aaactgaattttgagaacacINSatttcttcgcctaaagctaa																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:201399866_201399867insA	ENST00000357799.4	+	3	379_380	c.281_282insA	c.(280-285)acatttfs	p.F95fs	SGOL2_ENST00000409203.3_Frame_Shift_Ins_p.F95fs|SGOL2_ENST00000469840.1_3'UTR	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	95					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTGAGAACACATTTCTTCGCC	0.292																																					p.T94fs													.	SGOL2	126		0			c.281_282insA																																									SO:0001589	frameshift_variant	151246	exon3			AGAACACATTTCT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.282dupA	2.37:g.201399867_201399867dupA	ENSP00000350447:p.Phe95fs		365	0	0		440	0.02	8	NM_152524	3	0	0	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	CCDS42796.1																																																																																					0.292	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335834.1		NM_152524		A	201399867	-	A	201399866	7	5	96	1	0	1	1	0	0	0	0	0	14240	478	17	0	287	0	SGOL2	2	201399866	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	3065068	201399866	41799507	108	6893											
NBEAL1	65065	broad.mit.edu	37	chr2	204039941	204039942	+	Frame_Shift_Ins	INS	-	-	G																															actcactattcaaattctgcINSgggggtcatgcactatctca																								rs200940176	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:204039941_204039942insG	ENST00000449802.1	+	41	6641_6642	c.6308_6309insG	c.(6307-6312)gcggggfs	p.AG2103fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2103	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAAATTCTGCGGGGGTCATGC	0.366																																					p.A2103fs													.	NBEAL1	266		0			c.6308_6309insG																																									SO:0001589	frameshift_variant	65065	exon41			ATTCTGCGGGGGT	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6313dupG	2.37:g.204039946_204039946dupG	ENSP00000399903:p.Ala2103fs		404	0	0		417	0	0	NM_001114132	1	0	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Ins	INS	ENST00000449802.1	37	CCDS46495.1																																																																																					0.366	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333982.4				G	204039942	-	G	204039941	7	5	96	1	0	1	1	0	0	0	0	0	10204	768	27	0	6466	0	NBEAL1	2	204039941	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	2640075	204039941	39159432	109	6894											
DYTN	391475	broad.mit.edu	37	chr2	207527786	207527786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcagcaggaaccattttggGgatgtcctgcttcagtccct	7	13	10	11	0	2	0	2	0	0	0	4	2	4	2	3	3	3	2	3	3	1	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:207527786G>T	ENST00000452335.2	-	11	1590	c.1474C>A	c.(1474-1476)Ccc>Acc	p.P492T		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	492						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ACCATTTTGGGGATGTCCTGC	0.502																																					p.P492T													.	DYTN	168		0			c.C1474A												172	157	162					2																	207527786		1934	4171	6105	SO:0001583	missense	391475	exon11			TTTTGGGGATGTC	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1474C>A	2.37:g.207527786G>T	ENSP00000396593:p.Pro492Thr		233	0.0042918455	1		278	0.01	4	NM_001093730	0		0		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	9.443	1.088603	0.20390	.	.	ENSG00000232125	ENST00000452335	T	0.14640	2.49	5.12	-0.369	0.12534	.	.	.	.	.	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.34625	-0.9821	9	0.56958	D	0.05	-0.7334	2.952	0.05865	0.2919:0.0:0.3832:0.3249	.	492	A2CJ06	DYTN_HUMAN	T	492	ENSP00000396593:P492T	ENSP00000396593:P492T	P	-	1	0	DYTN	207236031	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.782000	0.04643	0.084000	0.17077	0.650000	0.86243	CCC			0.502	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336799.1				T	207527786	G	T	207527786	3	4	96	1	0	0	0	0	1	0	0	0	4866	1232	43	3	270	3	DYTN	2	207527786	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3487845	207527786	35671587	110	6895											
C2orf67	151050	broad.mit.edu	37	chr2	210888778	210888779	+	Frame_Shift_Ins	INS	-	-	A																															tggtttcttgactttgatttINSaaagaaggtaagccatatgc																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:210888778_210888779insA	ENST00000281772.9	-	14	2974_2975	c.2711_2712insT	c.(2710-2712)ttafs	p.L904fs	KANSL1L_ENST00000418791.1_Frame_Shift_Ins_p.L862fs	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	904						histone acetyltransferase complex (GO:0000123)											GACTTTGATTTAAAGAAGGTAA	0.376																																					p.L904fs													.	.			0			c.2712_2713insT																																									SO:0001589	frameshift_variant	151050	exon14			TTGATTTAAAGAA	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2712dupT	2.37:g.210888781_210888781dupA	ENSP00000281772:p.Leu904fs		210	0	0		233	0.02	4	NM_152519	14	0	0	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Frame_Shift_Ins	INS	ENST00000281772.9	37	CCDS33370.1																																																																																					0.376	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336633.3		NM_152519		A	210888779	-	A	210888778	7	5	96	1	0	1	1	0	0	0	0	0	2188	1751	61	0	259	0	C2orf67	2	210888778	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	3360992	210888778	32310595	111	6896											
FN1	2335	broad.mit.edu	37	chr2	216235100	216235100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactatgacgttgtaggtgGcacctctggtgaggcctgtc	6	11	13	11	1	1	2	0	2	1	0	2	2	1	2	3	4	0	3	3	4	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:216235100G>T	ENST00000359671.1	-	40	6762	c.6497C>A	c.(6496-6498)gCc>gAc	p.A2166D	FN1_ENST00000356005.4_Missense_Mutation_p.A2076D|FN1_ENST00000354785.4_Missense_Mutation_p.A2257D|FN1_ENST00000323926.6_Missense_Mutation_p.A2226D|FN1_ENST00000432072.2_Missense_Mutation_p.A2047D|FN1_ENST00000336916.4_Missense_Mutation_p.A2135D|FN1_ENST00000346544.3_Missense_Mutation_p.A2046D|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.A2020D|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Missense_Mutation_p.A1956D|FN1_ENST00000446046.1_Missense_Mutation_p.A2110D|FN1_ENST00000443816.1_Missense_Mutation_p.A2045D			P02751	FINC_HUMAN	fibronectin 1	2166	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	GTTGTAGGTGGCACCTCTGGT	0.498																																					p.A2257D													.	FN1	521		0			c.C6770A												123	103	110					2																	216235100		2203	4300	6503	SO:0001583	missense	2335	exon41			TAGGTGGCACCTC		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.6497C>A	2.37:g.216235100G>T	ENSP00000352696:p.Ala2166Asp		129	0.007751938	1		152	0.03	5	NM_212482	1275	0	0	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		.	.	.	.	.	.	.	.	.	.	G	18.57	3.653548	0.67472	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.81	3.02	0.34903	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.361702	0.25954	N	0.027230	T	0.66137	0.2759	M	0.66939	2.045	0.80722	D	1	D;D;P;P;P;P;D;D;P;P;P;P;P	0.67145	0.996;0.994;0.836;0.915;0.836;0.813;0.961;0.979;0.933;0.699;0.813;0.821;0.921	D;D;B;P;B;P;P;P;P;P;P;P;P	0.74023	0.982;0.953;0.399;0.739;0.399;0.761;0.901;0.9;0.846;0.761;0.761;0.557;0.804	T	0.62205	-0.6903	10	0.40728	T	0.16	.	10.2278	0.43236	0.2153:0.0:0.7847:0.0	.	1926;2046;2047;2226;1956;2076;2110;2135;2167;2020;2045;2257;2166	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	D	2020;2226;2135;1956;2257;2167;2166;2046;2110;2045;2047;2076;883	ENSP00000394423:A2020D;ENSP00000323534:A2226D;ENSP00000338200:A2135D;ENSP00000350534:A1956D;ENSP00000346839:A2257D;ENSP00000352696:A2166D;ENSP00000265312:A2046D;ENSP00000410422:A2110D;ENSP00000415018:A2045D;ENSP00000399538:A2047D;ENSP00000348285:A2076D;ENSP00000416139:A883D	ENSP00000265313:A2167D	A	-	2	0	FN1	215943345	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.114000	0.57858	0.363000	0.24346	0.462000	0.41574	GCC			0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding				NM_212476		T	216235100	G	T	216235100	3	4	96	1	0	0	0	0	1	0	0	0	5975	1203	42	2	687	2	FN1	2	216235100	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5346322	216235100	26964273	112	6897											
STK36	64320	broad.mit.edu	37	chr2	219540116	219540116	+	5'Flank	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctgtactatctgcattcCcaccgcatcctacaccgaga	9	9	6	17	2	1	1	0	0	1	1	3	2	3	1	5	0	3	3	5	0	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:219540116C>A	ENST00000295704.2	-	0	0				STK36_ENST00000392105.3_Silent_p.S118S|STK36_ENST00000392106.2_Silent_p.S118S|STK36_ENST00000440309.1_Silent_p.S118S|STK36_ENST00000295709.3_Silent_p.S118S	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTGCATTCCCACCGCATCC	0.483																																					p.S118S													.	STK36	111		0			c.C354A												171	157	162					2																	219540116		2203	4300	6503	SO:0001631	upstream_gene_variant	27148	exon5			GCATTCCCACCGC		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219540116C>A	Exception_encountered		244	0	0		280	0.01	2	NM_015690	7	0	0	A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	37	CCDS2420.1																																																																																					0.483	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256721.1		NM_022453		A	219540116	C	A	219540116	1	1	96	0	1	0	0	0	0	0	0	0	15325	610	22	3		3	STK36	2	219540116	5'Flank	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	3305016	219540116	23659257	113	6898											
MFF	56947	broad.mit.edu	37	chr2	228220439	228220439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgaaggaacgtcagatGacctgactgttgtagatgca	12	10	11	8	1	1	5	1	3	0	2	1	6	1	6	2	1	2	3	2	1	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:228220439G>T	ENST00000353339.3	+	10	1300	c.859G>T	c.(859-861)Gac>Tac	p.D287Y	MFF_ENST00000337110.7_Missense_Mutation_p.D188Y|MFF_ENST00000349901.7_Missense_Mutation_p.D183Y|MFF_ENST00000304593.9_Missense_Mutation_p.D236Y|MFF_ENST00000409565.1_Missense_Mutation_p.D163Y|MFF_ENST00000409616.1_Missense_Mutation_p.D183Y|MFF_ENST00000392059.1_Missense_Mutation_p.D287Y|MFF_ENST00000524634.1_Missense_Mutation_p.D34Y|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.D163Y	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	287					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AACGTCAGATGACCTGACTGT	0.318																																					p.D287Y													.	MFF	48		0			c.G859T												164	165	165					2																	228220439		2203	4300	6503	SO:0001583	missense	56947	exon10			TCAGATGACCTGA	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.859G>T	2.37:g.228220439G>T	ENSP00000302037:p.Asp287Tyr		194	0	0		190	0.02	3	NM_020194	447	0	1	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976575	0.92982	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000409616;ENST00000337110;ENST00000534203;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.38887	1.11;1.11	6.08	6.08	0.98989	.	0.042790	0.85682	D	0.000000	T	0.64789	0.2630	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.965;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.974;0.914;0.991;0.999;0.999	T	0.63484	-0.6627	10	0.87932	D	0	-11.1421	20.6721	0.99693	0.0:0.0:1.0:0.0	.	163;188;183;236;287	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;Q9GZY8-2;Q9GZY8	.;.;.;.;MFF_HUMAN	Y	236;287;163;163;183;188;59;34;183;287;99	ENSP00000302037:D287Y;ENSP00000375912:D287Y	ENSP00000304898:D236Y	D	+	1	0	MFF	227928683	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.721000	0.91446	2.894000	0.99253	0.591000	0.81541	GAC			0.318	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256887.2		NM_020194		T	228220439	G	T	228220439	3	4	96	1	0	0	0	0	1	0	0	0	9535	1290	45	3	889	3	MFF	2	228220439	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8680323	228220439	14978934	114	6899											
HJURP	55355	broad.mit.edu	37	chr2	234750714	234750714	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgctgctactggtctCttgtagggagaggctgtcat	7	12	14	8	0	2	1	1	0	1	1	3	3	2	1	0	3	4	5	0	3	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:234750714C>A	ENST00000411486.2	-	8	777	c.712G>T	c.(712-714)Gag>Tag	p.E238*	HJURP_ENST00000432087.1_Nonsense_Mutation_p.E184*|HJURP_ENST00000434039.1_5'UTR|HJURP_ENST00000441687.1_Nonsense_Mutation_p.E153*	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	238					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CTACTGGTCTCTTGTAGGGAG	0.507																																					p.E238X													.	HJURP	72		0			c.G712T												151	136	141					2																	234750714		2203	4300	6503	SO:0001587	stop_gained	55355	exon8			TGGTCTCTTGTAG		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.712G>T	2.37:g.234750714C>A	ENSP00000414109:p.Glu238*		152	0	0		121	0.03	4	NM_018410	98	0	0	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Nonsense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732257	0.48939	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924;ENST00000454020	.	.	.	4.22	3.34	0.38264	.	0.626585	0.14875	N	0.293316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.9098	8.2762	0.31874	0.0:0.8937:0.0:0.1063	.	.	.	.	X	238;184;153;153;197	.	ENSP00000414109:E238X	E	-	1	0	HJURP	234415453	0.007000	0.16637	0.002000	0.10522	0.003000	0.03518	2.934000	0.48956	1.375000	0.46248	-0.150000	0.13652	GAG			0.507	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000130996.6		NM_018410		A	234750714	C	A	234750714	4	1	96	1	0	0	0	0	0	1	0	0	7204	922	32	3	1542	3	HJURP	2	234750714	Nonsense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	6530275	234750714	8448659	115	6900											
IQCA1	79781	broad.mit.edu	37	chr2	237327829	237327829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctttcttttgttttttgGctttcttgggttgtttttcc	0	27	7	7	0	2	0	0	0	2	0	4	0	4	0	2	2	0	4	2	2	0	12			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:237327829G>A	ENST00000409907.3	-	8	1371	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V	IQCA1_ENST00000309507.5_Missense_Mutation_p.A362V|IQCA1_ENST00000431676.2_Intron|IQCA1_ENST00000465621.1_5'UTR	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	366	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGTTTTTTGGCTTTCTTGGG	0.274																																					p.A373V													.	IQCA1	170		0			c.C1118T												19	19	19					2																	237327829		1332	2931	4263	SO:0001583	missense	79781	exon8			TTTTTGGCTTTCT	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1097C>T	2.37:g.237327829G>A	ENSP00000387347:p.Ala366Val		669	0.0014947683	1		736	0.01	6	NM_001270585	2	0	0	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	6.535	0.466996	0.12402	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000412437	D;D	0.93953	-3.32;-3.32	3.29	-0.928	0.10448	.	1.779420	0.02755	N	0.117884	D	0.88872	0.6555	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.73610	-0.3928	10	0.32370	T	0.25	.	5.5873	0.17281	0.0:0.3054:0.283:0.4116	.	373;366	E9PH78;Q86XH1	.;IQCA1_HUMAN	V	366;373;362;362	ENSP00000387347:A366V;ENSP00000311951:A362V	ENSP00000254653:A366V	A	-	2	0	IQCA1	236992568	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.429000	0.06982	-0.226000	0.09899	0.655000	0.94253	GCC			0.274	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000329266.1		NM_024726		A	237327829	G	A	237327829	3	1	96	1	0	0	0	0	1	0	0	0	7817	1203	42	2	1419	2	IQCA1	2	237327829	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2577115	237327829	5871544	116	6901											
COL6A3	1293	broad.mit.edu	37	chr2	238271979	238271979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccctcgcccaaactccaGatgcattagccgctccaagt	12	7	6	16	2	0	1	0	0	0	1	3	1	2	1	5	0	4	2	5	0	4	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:238271979G>T	ENST00000295550.4	-	14	6432	c.5980C>A	c.(5980-5982)Ctg>Atg	p.L1994M	COL6A3_ENST00000353578.4_Missense_Mutation_p.L1788M|COL6A3_ENST00000409809.1_Missense_Mutation_p.L1788M|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1793M|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1387M|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1794M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1994	Nonhelical region.|VWFA 10. {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)		CCAAACTCCAGATGCATTAGC	0.488																																					p.L1994M													.	COL6A3	608		0			c.C5980A												102	95	97					2																	238271979		2203	4300	6503	SO:0001583	missense	1293	exon14			ACTCCAGATGCAT	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.5980C>A	2.37:g.238271979G>T	ENSP00000295550:p.Leu1994Met		268	0.0111940299	3		287	0.01	4	NM_004369	32	0	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398699	0.11696	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.88	1.97	0.26223	von Willebrand factor, type A (2);	0.180425	0.26514	N	0.023960	T	0.59742	0.2216	M	0.80746	2.51	0.45914	D	0.998752	D;D;D	0.89917	0.999;1.0;0.99	D;D;P	0.77004	0.974;0.989;0.893	T	0.56335	-0.7996	10	0.62326	D	0.03	.	6.4333	0.21809	0.1575:0.2798:0.5627:0.0	.	1387;1788;1994	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	M	1994;1793;1788;1387;1788;1794	ENSP00000295550:L1994M;ENSP00000315609:L1793M;ENSP00000315873:L1788M;ENSP00000418285:L1387M;ENSP00000386844:L1788M;ENSP00000295546:L1794M	ENSP00000295550:L1994M	L	-	1	2	COL6A3	237936718	0.021000	0.18746	0.857000	0.33713	0.375000	0.29983	0.406000	0.21032	0.081000	0.16988	-0.216000	0.12614	CTG			0.488	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315790.2		NM_004369		T	238271979	G	T	238271979	3	4	96	1	0	0	0	0	1	0	0	0	3703	933	33	3	3677	3	COL6A3	2	238271979	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	944150	238271979	4927394	117	6902											
COL6A3	1293	broad.mit.edu	37	chr2	238296450	238296450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctaccaccccgtagcGaatctcgtcactagaaggcc	10	7	9	15	3	2	1	1	0	1	1	3	2	2	1	4	1	3	2	4	1	5	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:238296450G>T	ENST00000295550.4	-	4	1539	c.1087C>A	c.(1087-1089)Cgc>Agc	p.R363S	COL6A3_ENST00000392004.3_Missense_Mutation_p.R157S|COL6A3_ENST00000353578.4_Missense_Mutation_p.R157S|COL6A3_ENST00000409809.1_Missense_Mutation_p.R157S|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.R363S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	363	Nonhelical region.|VWFA 2. {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)		ACCCCGTAGCGAATCTCGTCA	0.627																																					p.R363S													COL6A3_ENST00000392004,NS,carcinoma,+1,2	COL6A3	608	2	0			c.C1087A												44	45	45					2																	238296450		2203	4300	6503	SO:0001583	missense	1293	exon4			CGTAGCGAATCTC	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.1087C>A	2.37:g.238296450G>T	ENSP00000295550:p.Arg363Ser		87	0.0114942529	1		111	0.03	3	NM_004369	2	0	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.587143	0.13812	.	.	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.17	0.905	0.19307	von Willebrand factor, type A (3);	0.865126	0.09569	U	0.784465	T	0.69682	0.3138	N	0.17674	0.51	0.09310	N	1	B;B;B;B	0.33000	0.051;0.011;0.393;0.051	B;B;B;B	0.32928	0.046;0.039;0.155;0.046	T	0.56341	-0.7995	10	0.30078	T	0.28	.	9.1715	0.37083	0.0:0.3004:0.4549:0.2447	.	363;157;157;363	E9PCV6;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	S	363;157;157;363;157;363	ENSP00000295550:R363S;ENSP00000315873:R157S;ENSP00000386844:R157S;ENSP00000295546:R363S;ENSP00000375861:R157S;ENSP00000389539:R363S	ENSP00000295550:R363S	R	-	1	0	COL6A3	237961189	0.001000	0.12720	0.553000	0.28255	0.778000	0.44026	0.272000	0.18644	0.542000	0.28846	-0.156000	0.13503	CGC			0.627	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315790.2		NM_004369		T	238296450	G	T	238296450	3	4	96	1	0	0	0	0	1	0	0	0	3703	1058	37	1	8657	1	COL6A3	2	238296450	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	24471	238296450	4902923	118	6903											
PER2	8864	mdanderson.org	37	chr2	239161833	239161833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggaactcaggctgtgagGcagaggccatctcggatgtg	8	8	17	8	1	2	2	1	1	1	1	3	4	2	4	1	6	1	2	1	6	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr2:239161833G>A	ENST00000254657.3	-	19	3110	c.2831C>T	c.(2830-2832)gCc>gTc	p.A944V	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	944	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGCTGTGAGGCAGAGGCCAT	0.657																																					p.A944V													.	.			0			c.C2831T												52	54	53					2																	239161833		2203	4300	6503	SO:0001583	missense	8864	exon19			TGTGAGGCAGAGG	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2831C>T	2.37:g.239161833G>A	ENSP00000254657:p.Ala944Val		44	0	0		39	0.08	3	NM_022817	2	0	0	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	3.987	-0.005253	0.07773	.	.	ENSG00000132326	ENST00000254657	T	0.11604	2.76	4.1	1.94	0.25998	.	2.012890	0.02230	N	0.064840	T	0.15392	0.0371	M	0.78801	2.425	0.19775	N	0.999953	B;B	0.14012	0.002;0.009	B;B	0.12156	0.002;0.007	T	0.41288	-0.9517	10	0.15499	T	0.54	-10.3531	4.8212	0.13392	0.2235:0.1765:0.6:0.0	.	944;944	B4DH14;O15055	.;PER2_HUMAN	V	944	ENSP00000254657:A944V	ENSP00000254657:A944V	A	-	2	0	PER2	238826572	0.036000	0.19791	0.288000	0.24862	0.025000	0.11179	1.912000	0.39946	0.307000	0.22880	0.561000	0.74099	GCC			0.657	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257167.1		NM_022817		A	239161833	G	A	239161833	3	1	96	1	0	0	0	0	1	0	0	0	11747	1203	42	2	956	2	PER2	2	239161833	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	865383	239161833	4037540	119	6904											
SETMAR	6419	broad.mit.edu	37	chr3	4355265	4355266	+	Frame_Shift_Ins	INS	-	-	G																															acaaagaaaggctagatcatINSgggaaactaaggaaaccttg																								rs142449470	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:4355265_4355266insG	ENST00000358065.4	+	2	907_908	c.840_841insG	c.(841-843)gggfs	p.G281fs	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Frame_Shift_Ins_p.G281fs|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	281	Histone-lysine N-methyltransferase.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGCTAGATCATGGGAAACTAAG	0.406								Chromatin Structure																													p.H280fs													.	SETMAR	30		0			c.840_841insG																																									SO:0001589	frameshift_variant	6419	exon2			AGATCATGGGAAA	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.843dupG	3.37:g.4355268_4355268dupG	ENSP00000373354:p.Gly281fs		226	0	0		375	0.01	5	NM_001276325	11	0	0	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Frame_Shift_Ins	INS	ENST00000358065.4	37	CCDS2563.2																																																																																					0.406	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206587.4		NM_006515		G	4355266	-	G	4355265	7	5	96	1	0	1	1	0	0	0	0	0	14163	1461	51	0	846	0	SETMAR	3	4355265	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10		4355265	193667165	120	6905											
PPARG	5468	broad.mit.edu	37	chr3	12447553	12447554	+	Frame_Shift_Ins	INS	-	-	T																															aagcaaaggcgagggcgatcINSttgacaggaaagacaacaga																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:12447553_12447554insT	ENST00000287820.6	+	5	913_914	c.792_793insT	c.(793-795)ttgfs	p.L265fs	PPARG_ENST00000539812.1_Frame_Shift_Ins_p.L235fs|PPARG_ENST00000397000.1_Frame_Shift_Ins_p.L237fs|PPARG_ENST00000397026.2_Frame_Shift_Ins_p.L243fs|PPARG_ENST00000397012.2_Frame_Shift_Ins_p.L237fs|PPARG_ENST00000397010.2_Frame_Shift_Ins_p.L237fs|PPARG_ENST00000397015.2_Frame_Shift_Ins_p.L237fs|PPARG_ENST00000309576.6_Frame_Shift_Ins_p.L237fs	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	265	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|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)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CGAGGGCGATCTTGACAGGAAA	0.475			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																														p.I264fs				Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	.	PPARG	49		0			c.792_793insT																																									SO:0001589	frameshift_variant	5468	exon5			GGCGATCTTGACA	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.794dupT	3.37:g.12447555_12447555dupT	ENSP00000287820:p.Leu265fs		187	0	0		241	0.02	4	NM_015869	5	0	0	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Frame_Shift_Ins	INS	ENST00000287820.6	37	CCDS2609.1																																																																																					0.475	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251979.2		NM_005037		T	12447554	-	T	12447553	7	5	96	1	0	1	1	0	0	0	0	0	12316	903	32	0	810	0	PPARG	3	12447553	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	8092288	12447553	185574877	121	6906											
IQSEC1	9922	broad.mit.edu	37	chr3	12977109	12977109	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgactcggagctgcagttGatggtatcgttggagttgga	8	12	16	5	2	0	2	0	2	0	0	2	6	0	5	0	4	2	6	0	4	1	4	rs148022111	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:12977109G>T	ENST00000273221.4	-	3	1665	c.1449C>A	c.(1447-1449)atC>atA	p.I483I	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	483					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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTGCAGTTGATGGTATCGT	0.587																																					p.I483I													.	IQSEC1	88		0			c.C1449A												175	157	163					3																	12977109		2202	4300	6502	SO:0001819	synonymous_variant	9922	exon3			GCAGTTGATGGTA	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1449C>A	3.37:g.12977109G>T			125	0.016	2		152	0.03	5	NM_014869	5	0	0	O94863|Q96D85	Silent	SNP	ENST00000273221.4	37	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	7.545	0.661402	0.14645	.	.	ENSG00000144711	ENST00000450726	.	.	.	4.58	2.52	0.30459	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47394	-0.9121	4	.	.	.	.	5.8722	0.18809	0.0997:0.0:0.4069:0.4934	.	.	.	.	K	484	.	.	Q	-	1	0	IQSEC1	12952109	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.548000	0.36201	1.087000	0.41251	0.655000	0.94253	CAA			0.587	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339865.2		NM_014869		T	12977109	G	T	12977109	2	4	96	1	0	0	0	0	0	0	0	1	7832	1280	45	3		3	IQSEC1	3	12977109	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	529556	12977109	185045321	122	6907											
ANKRD28	23243	broad.mit.edu	37	chr3	15731642	15731642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaaagctgcaagatctaggGgtgttcttccactactattt	11	14	8	8	0	2	1	0	0	2	1	3	1	3	1	1	2	3	3	1	2	6	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:15731642G>T	ENST00000399451.2	-	18	2124	c.1757C>A	c.(1756-1758)cCc>cAc	p.P586H	ANKRD28_ENST00000383777.1_Missense_Mutation_p.P619H|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	586						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAGATCTAGGGGTGTTCTTCC	0.388																																					p.P586H													.	ANKRD28	121		0			c.C1757A												112	104	107					3																	15731642		1894	4130	6024	SO:0001583	missense	23243	exon18			TCTAGGGGTGTTC	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1757C>A	3.37:g.15731642G>T	ENSP00000382379:p.Pro586His		207	0	0		284	0.02	7	NM_015199	21	0	0	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444489	0.83993	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.71461	-0.57;-0.57;-0.57	5.39	5.39	0.77823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.983;0.984	D	0.89304	0.3628	10	0.87932	D	0	.	19.1624	0.93539	0.0:0.0:1.0:0.0	.	619;616;586	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	H	586;619;586	ENSP00000382379:P586H;ENSP00000373287:P619H;ENSP00000397341:P586H	ENSP00000373287:P619H	P	-	2	0	ANKRD28	15706646	1.000000	0.71417	0.790000	0.31976	0.643000	0.38383	9.467000	0.97671	2.523000	0.85059	0.650000	0.86243	CCC			0.388	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339758.1		NM_015199		T	15731642	G	T	15731642	3	4	96	1	0	0	0	0	1	0	0	0	656	1232	43	3	1448	3	ANKRD28	3	15731642	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2754533	15731642	182290788	123	6908											
ARPP21	10777	broad.mit.edu	37	chr3	35834022	35834022	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaatgtcttcttatcaGgtgctcataagcagcttgga	11	12	8	10	0	4	0	2	0	2	0	4	1	4	1	1	2	4	3	1	2	4	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:35834022G>T	ENST00000187397.4	+	19	2637	c.2181G>T	c.(2179-2181)caG>caT	p.Q727H	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Splice_Site_p.Q728H|ARPP21_ENST00000337271.5_Splice_Site_p.Q708H|ARPP21_ENST00000444190.1_Splice_Site_p.Q708H|ARPP21_ENST00000417925.1_Splice_Site_p.Q728H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	727	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTTCTTATCAGGTGCTCATAA	0.478																																					p.Q728H													.	ARPP21	153		0			c.G2184T												127	112	117					3																	35834022		2203	4300	6503	SO:0001630	splice_region_variant	10777	exon18			TTATCAGGTGCTC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2181+1G>T	3.37:g.35834022G>T			224	0	0		326	0.01	3	NM_001267619	0		0	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Splice_Site	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492066	0.84962	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.55052	1.05;0.54;0.54;1.2;1.05	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000004	T	0.74336	0.3703	M	0.74881	2.28	0.52099	D	0.99994	D;D;D;D	0.76494	0.998;0.998;0.997;0.999	D;D;D;D	0.85130	0.996;0.996;0.99;0.997	T	0.74665	-0.3589	10	0.54805	T	0.06	-10.4931	19.8449	0.96704	0.0:0.0:1.0:0.0	.	728;250;727;708	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	H	728;708;708;727;728	ENSP00000414351:Q728H;ENSP00000337792:Q708H;ENSP00000405276:Q708H;ENSP00000187397:Q727H;ENSP00000412326:Q728H	ENSP00000187397:Q727H	Q	+	3	2	ARPP21	35809026	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.539000	0.82063	2.680000	0.91292	0.655000	0.94253	CAG			0.478	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253334.2		NM_198399	Missense_Mutation	T	35834022	G	T	35834022	5	4	96	1	0	0	0	0	0	0	1	0	978	1014	35	3	2260	3	ARPP21	3	35834022	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	20102380	35834022	162188408	124	6909											
DCLK3	85443	broad.mit.edu	37	chr3	36779862	36779863	+	Frame_Shift_Ins	INS	-	-	C																															tctggctcccatttccccctINScccccacttcttctgggtcc																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:36779862_36779863insC	ENST00000416516.2	-	2	778_779	c.288_289insG	c.(286-291)gggaggfs	p.R97fs		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	97						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CATTTCCCCCTCCCCCACTTCT	0.594																																					p.R97fs													DCLK3,NS,carcinoma,+2,1	DCLK3	95	1	0			c.289_290insG																																									SO:0001589	frameshift_variant	85443	exon2			TCCCCCTCCCCCA	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.289dupG	3.37:g.36779867_36779867dupC	ENSP00000394484:p.Arg97fs		173	0	0		287	0.02	6	NM_033403	4	0	0		Frame_Shift_Ins	INS	ENST00000416516.2	37	CCDS43064.1																																																																																					0.594	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341727.1		XM_047355		C	36779863	-	C	36779862	7	5	96	1	0	1	1	0	0	0	0	0	4295	1550	54	0	1673	0	DCLK3	3	36779862	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	945840	36779862	161242568	125	6910											
ZNF35	7584	broad.mit.edu	37	chr3	44694153	44694153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagggactctggccaaGagtgagatactggagactca	12	8	12	9	0	2	3	1	1	1	3	2	6	2	4	2	3	2	0	2	3	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:44694153G>T	ENST00000396056.2	+	3	532	c.297G>T	c.(295-297)aaG>aaT	p.K99N	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000399560.2_Intron|ZNF35_ENST00000296092.3_Intron|ZNF35_ENST00000542250.1_Intron|ZNF35_ENST00000453164.1_Intron	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	99	Globular domain.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CTCTGGCCAAGAGTGAGATAC	0.478																																					p.K99N													.	ZNF35	34		0			c.G297T												113	106	109					3																	44694153		2203	4300	6503	SO:0001583	missense	7584	exon3			GGCCAAGAGTGAG	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.297G>T	3.37:g.44694153G>T	ENSP00000379368:p.Lys99Asn		120	0	0		159	0.02	3	NM_003420	12	0	0	B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654278	0.47467	.	.	ENSG00000169981	ENST00000396056;ENST00000415571;ENST00000432115	T	0.10005	2.92	3.8	3.8	0.43715	.	0.349089	0.20952	N	0.082733	T	0.08492	0.0211	L	0.27053	0.805	0.80722	D	1	B	0.23058	0.079	B	0.18871	0.023	T	0.13602	-1.0503	10	0.59425	D	0.04	-7.0889	11.4785	0.50312	0.0:0.0:1.0:0.0	.	99	P13682	ZNF35_HUMAN	N	99	ENSP00000379368:K99N	ENSP00000379368:K99N	K	+	3	2	ZNF35	44669157	0.998000	0.40836	0.912000	0.35992	0.995000	0.86356	0.961000	0.29267	2.393000	0.81446	0.655000	0.94253	AAG			0.478	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256749.4		NM_003420		T	44694153	G	T	44694153	3	4	96	1	0	0	0	0	1	0	0	0	17885	933	33	3	303	3	ZNF35	3	44694153	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7914291	44694153	153328277	126	6911											
KIF15	56992	broad.mit.edu	37	chr3	44828007	44828007	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taagggagcatatcaagaagGgagtctttgttgttggtgcg	10	12	15	4	1	2	1	1	0	1	1	2	3	2	3	0	3	2	3	0	3	4	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:44828007G>T	ENST00000326047.4	+	7	729	c.580G>T	c.(580-582)Gga>Tga	p.G194*		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	194	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)		TATCAAGAAGGGAGTCTTTGT	0.458																																					p.G194X													.	KIF15	103		0			c.G580T												132	126	128					3																	44828007		2203	4300	6503	SO:0001587	stop_gained	56992	exon7			AAGAAGGGAGTCT	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.580G>T	3.37:g.44828007G>T	ENSP00000324020:p.Gly194*		164	0	0		229	0.02	4	NM_020242	10	0	0	Q17RV9|Q69YL6|Q96JX7|Q9H280	Nonsense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	39	7.326535	0.98214	.	.	ENSG00000163808	ENST00000326047;ENST00000396031	.	.	.	5.85	5.85	0.93711	.	0.000000	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	.	.	.	X	194;193	.	ENSP00000324020:G194X	G	+	1	0	KIF15	44803011	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.768000	0.95171	0.655000	0.94253	GGA			0.458	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343831.2				T	44828007	G	T	44828007	4	4	96	1	0	0	0	0	0	1	0	0	8292	1233	43	3	606	3	KIF15	3	44828007	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	133854	44828007	153194423	127	6912											
ALS2CL	259173	broad.mit.edu	37	chr3	46713682	46713682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacttgtccctgaccaGggagtacctctgcatggtgg	9	9	12	11	0	1	1	0	1	1	0	2	3	2	2	3	3	3	2	3	3	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:46713682G>T	ENST00000318962.4	-	23	2565	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M	ALS2CL_ENST00000383742.3_Missense_Mutation_p.L175M|ALS2CL_ENST00000415953.1_Missense_Mutation_p.L828M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	828	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				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)		TCCCTGACCAGGGAGTACCTC	0.647																																					p.L828M													.	ALS2CL	78		0			c.C2482A												121	94	103					3																	46713682		2203	4300	6503	SO:0001583	missense	259173	exon23			TGACCAGGGAGTA	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.2482C>A	3.37:g.46713682G>T	ENSP00000313670:p.Leu828Met		158	0	0		286	0.01	4	NM_001190707	18	0	0	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288910	0.40494	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.56444	0.46;0.46;0.87	5.69	3.89	0.44902	Vacuolar sorting protein 9 (1);	0.148836	0.32002	N	0.006728	T	0.59487	0.2197	L	0.43152	1.355	0.36692	D	0.879633	D	0.76494	0.999	D	0.66716	0.946	T	0.65088	-0.6253	10	0.48119	T	0.1	.	8.953	0.35801	0.1751:0.0:0.8249:0.0	.	828	Q60I27	AL2CL_HUMAN	M	828;828;175	ENSP00000313670:L828M;ENSP00000413223:L828M;ENSP00000373248:L175M	ENSP00000313670:L828M	L	-	1	2	ALS2CL	46688686	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	5.329000	0.65892	1.408000	0.46895	0.650000	0.86243	CTG			0.647	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250567.3		NM_147129		T	46713682	G	T	46713682	3	4	96	1	0	0	0	0	1	0	0	0	551	991	35	3	395	3	ALS2CL	3	46713682	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1885675	46713682	151308748	128	6913											
CCDC12	151903	broad.mit.edu	37	chr3	47018230	47018230	+	5'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttgcctccatcttgcccGcgtacgcccctccttttctc	3	14	6	18	3	2	0	0	0	2	0	5	0	4	0	6	0	3	2	6	0	2	6	rs530541908		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:47018230G>A	ENST00000546280.1	-	0	40				CCDC12_ENST00000292314.2_Missense_Mutation_p.A11V|CCDC12_ENST00000425441.1_Missense_Mutation_p.A11V|NBEAL2_ENST00000450053.3_5'Flank|CCDC12_ENST00000605358.1_5'Flank|NBEAL2_ENST00000292309.5_5'Flank|NBEAL2_ENST00000383740.2_5'Flank	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12											endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		CATCTTGCCCGCGTACGCCCC	0.612																																					p.E11V													.	CCDC12	9		0			c.A32T												57	49	51					3																	47018230		2202	4300	6502	SO:0001623	5_prime_UTR_variant	151903	exon2			TTGCCCGCGTACG	BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.-8C>T	3.37:g.47018230G>A			88	0	0		151	0.03	4	NM_144716	49	0.02	1	Q8N8I4	Missense_Mutation	SNP	ENST00000546280.1	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.158694	0.78226	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000446836	.	.	.	4.94	-9.85	0.00476	.	.	.	.	.	T	0.11665	0.0284	N	0.08118	0	0.21147	N	0.999779	.	.	.	.	.	.	T	0.13980	-1.0489	6	0.17832	T	0.49	.	4.2404	0.10645	0.5333:0.2243:0.1495:0.0928	.	.	.	.	V	11	.	ENSP00000292314:A11V	A	-	2	0	CCDC12	46993234	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.932000	0.03963	-1.862000	0.01151	-0.253000	0.11424	GCG			0.612	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_144716		A	47018230	G	A	47018230	1	1	96	0	1	0	0	0	0	0	0	0	2757	1087	38	1		1	CCDC12	3	47018230	5'UTR	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	304548	47018230	151004200	129	6914											
NBEAL2	23218	hgsc.bcm.edu;broad.mit.edu	37	chr3	47045654	47045656	+	In_Frame_Del	DEL	TCT	TCT	-																															gcgccgttcagcacttgagcTcttctttatcgatcaggcca																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	TCT	TCT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:47045654_47045656delTCT	ENST00000450053.3	+	37	6148_6150	c.5969_5971delTCT	c.(5968-5973)ctcttc>ctc	p.F1992del	NBEAL2_ENST00000292309.5_In_Frame_Del_p.F1808del|NBEAL2_ENST00000383740.2_In_Frame_Del_p.F271del	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1992					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)		GCACTTGAGCTCTTCTTTATCGA	0.601																																					p.1990_1990del													.	NBEAL2	267		0			c.5968_5970del																																									SO:0001651	inframe_deletion	23218	exon37			TTGAGCTCTTCTT	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.5969_5971delTCT	3.37:g.47045657_47045659delTCT	ENSP00000415034:p.Phe1992del		113	0	0		163	0.08	13	NM_015175	35	0	0	O60288|Q6P994|Q6UX91|Q8NAC9	In_Frame_Del	DEL	ENST00000450053.3	37	CCDS46817.1																																																																																					0.601	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344363.3		XM_291064		-	47045656	TCT	-	47045654	7	5	96	1	0	1	0	1	0	0	0	0	10205	1551	54	0	6115	0	NBEAL2	3	47045654	In_Frame_Del	DEL	TCT	TCGA-VF-A8A8-01A-11D-A435-10	27424	47045654	150976776	130	6915											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717114	48717114	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatggcgccaaagcacttGaggagcagcagccgcagtga	12	4	13	12	2	0	2	0	2	0	0	0	3	0	3	2	2	4	4	2	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:48717114G>T	ENST00000294129.2	-	8	1502	c.1383C>A	c.(1381-1383)ctC>ctA	p.L461L	NCKIPSD_ENST00000341520.4_Silent_p.L461L|NCKIPSD_ENST00000416649.2_Silent_p.L454L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	461	Leu-rich.				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)		CAAAGCACTTGAGGAGCAGCA	0.597																																					p.L461L													.	NCKIPSD	52		0			c.C1383A												88	79	82					3																	48717114		2203	4300	6503	SO:0001819	synonymous_variant	51517	exon8			GCACTTGAGGAGC	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.1383C>A	3.37:g.48717114G>T			155	0.0064516129	1		207	0.03	6	NM_016453	71	0.01	1	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Silent	SNP	ENST00000294129.2	37	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	8.606	0.887950	0.17540	.	.	ENSG00000213672	ENST00000415281	.	.	.	4.91	1.9	0.25705	.	.	.	.	.	T	0.58119	0.2100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53330	-0.8454	4	.	.	.	.	9.3386	0.38065	0.0887:0.5011:0.4102:0.0	.	.	.	.	K	197	.	.	Q	-	1	0	NCKIPSD	48692118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.071000	0.41500	0.751000	0.32900	0.655000	0.94253	CAA			0.597	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257520.1		NM_016453		T	48717114	G	T	48717114	2	4	96	1	0	0	0	0	0	0	0	1	10242	1277	45	3		3	NCKIPSD	3	48717114	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1671460	48717114	149305316	131	6916											
USP19	10869	broad.mit.edu	37	chr3	49146487	49146487	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaaagtaccggaggcaGccctcatctggtgtggtagg	10	7	15	9	1	2	0	1	0	1	0	2	2	2	2	2	6	2	3	2	6	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:49146487G>T	ENST00000398888.2	-	26	4179	c.3861C>A	c.(3859-3861)ggC>ggA	p.G1287G	USP19_ENST00000398898.2_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000434032.2_Silent_p.G1388G|USP19_ENST00000417901.1_Intron|USP19_ENST00000398892.3_Silent_p.G1327G|USP19_ENST00000453664.1_Intron	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1287					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCGGAGGCAGCCCTCATCTG	0.662																																					p.G1388G													.	USP19	158		0			c.C4164A												24	32	29					3																	49146487		2112	4225	6337	SO:0001819	synonymous_variant	10869	exon27			GAGGCAGCCCTCA	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3861C>A	3.37:g.49146487G>T			215	0.0093023256	2		328	0.02	5	NM_001199160	18	0	0	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	CCDS43090.1																																																																																					0.662	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000257721.1		NM_006677		T	49146487	G	T	49146487	2	4	96	1	0	0	0	0	0	0	0	1	17074	958	34	2		2	USP19	3	49146487	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	429373	49146487	148875943	132	6917											
LAMB2	3913	broad.mit.edu	37	chr3	49162818	49162818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactggccacgctggcagCggtcacagcgaagcccaaag	10	3	12	16	3	1	0	1	0	0	0	1	1	1	0	3	3	3	2	3	3	2	0	rs146326783	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:49162818C>T	ENST00000418109.1	-	20	2752	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.R863H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	863	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)		ACGCTGGCAGCGGTCACAGCG	0.622																																					p.R863H													.	LAMB2	156		0			c.G2588A							C	HIS/ARG	7,4399	11.4+/-27.6	0,7,2196	66	64	65		2588	-0.6	1	3	dbSNP_134	65	0,8600		0,0,4300	yes	missense	LAMB2	NM_002292.3	29	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	863/1799	49162818	7,12999	2203	4300	6503	SO:0001583	missense	3913	exon19			TGGCAGCGGTCAC		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.2588G>A	3.37:g.49162818C>T	ENSP00000388325:p.Arg863His		161	0	0		313	0.01	3	NM_002292	15	0	0	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282668	0.40394	0.001589	0.0	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.64260	-0.09;-0.09	6.08	-0.571	0.11749	EGF-like, laminin (4);	0.289574	0.37761	N	0.001959	T	0.51719	0.1691	L	0.52126	1.63	0.42455	D	0.992766	B	0.09022	0.002	B	0.12156	0.007	T	0.43686	-0.9376	10	0.44086	T	0.13	.	11.1302	0.48343	0.0:0.5126:0.0:0.4874	.	863	P55268	LAMB2_HUMAN	H	863	ENSP00000388325:R863H;ENSP00000307156:R863H	ENSP00000307156:R863H	R	-	2	0	LAMB2	49137822	0.002000	0.14202	0.991000	0.47740	0.991000	0.79684	-0.731000	0.04909	-0.168000	0.10853	-0.136000	0.14681	CGC			0.622	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345939.1		NM_002292		T	49162818	C	T	49162818	3	4	96	1	0	0	0	0	1	0	0	0	8626	768	27	1	2864	1	LAMB2	3	49162818	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	16331	49162818	148859612	133	6918											
BSN	8927	broad.mit.edu	37	chr3	49690876	49690876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctaaatgctgagagtgCatacatggacccaatgaagc	13	10	10	8	0	1	2	0	2	1	1	1	4	1	3	1	1	4	3	1	1	5	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:49690876C>T	ENST00000296452.4	+	5	4001	c.3887C>T	c.(3886-3888)gCa>gTa	p.A1296V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1296					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)		GCTGAGAGTGCATACATGGAC	0.552																																					p.A1296V													.	BSN	272		0			c.C3887T												62	64	63					3																	49690876		2203	4300	6503	SO:0001583	missense	8927	exon5			AGAGTGCATACAT	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.3887C>T	3.37:g.49690876C>T	ENSP00000296452:p.Ala1296Val		191	0.0261780105	5		275	0.03	9	NM_003458	0		0	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987538	0.53934	.	.	ENSG00000164061	ENST00000296452	T	0.26660	1.72	5.06	4.19	0.49359	.	0.062950	0.64402	N	0.000013	T	0.31327	0.0793	M	0.77313	2.365	0.50813	D	0.999899	B	0.26845	0.161	B	0.25884	0.064	T	0.08764	-1.0706	10	0.34782	T	0.22	.	13.5975	0.61998	0.0:0.9244:0.0:0.0756	.	1296	Q9UPA5	BSN_HUMAN	V	1296	ENSP00000296452:A1296V	ENSP00000296452:A1296V	A	+	2	0	BSN	49665880	1.000000	0.71417	0.871000	0.34182	0.994000	0.84299	6.083000	0.71326	1.137000	0.42214	0.462000	0.41574	GCA			0.552	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000258164.1		NM_003458		T	49690876	C	T	49690876	3	4	96	1	0	0	0	0	1	0	0	0	1532	710	25	2	3905	2	BSN	3	49690876	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	528058	49690876	148331554	134	6919											
SEMA3F	6405	broad.mit.edu	37	chr3	50211240	50211240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagagctgaaggccacaGgcaccgcccacttcttcaac	11	5	8	17	1	2	2	1	1	1	1	2	2	2	2	4	2	2	2	4	2	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:50211240G>T	ENST00000002829.3	+	3	611	c.127G>T	c.(127-129)Ggc>Tgc	p.G43C	SEMA3F_ENST00000413852.1_5'UTR|SEMA3F_ENST00000434342.1_Missense_Mutation_p.G43C|MIR566_ENST00000385187.1_RNA	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	43	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GAAGGCCACAGGCACCGCCCA	0.572																																					p.G43C													.	SEMA3F	62		0			c.G127T												126	101	109					3																	50211240		2203	4300	6503	SO:0001583	missense	6405	exon3			GCCACAGGCACCG	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.127G>T	3.37:g.50211240G>T	ENSP00000002829:p.Gly43Cys		109	0	0		191	0.03	5	NM_004186	2	0	0	C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489012	0.44249	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000002829;ENST00000426511;ENST00000434342;ENST00000420831	T;T;T;T;T;T	0.49720	1.86;1.86;1.86;1.86;1.86;0.77	5.25	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.67953	2.075	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.69142	0.928;0.962	T	0.68981	-0.5266	10	0.72032	D	0.01	.	13.7817	0.63087	0.0751:0.0:0.9249:0.0	.	43;43	C9JQ85;Q13275	.;SEM3F_HUMAN	C	43;43;43;43;43;1	ENSP00000392588:G43C;ENSP00000398399:G43C;ENSP00000002829:G43C;ENSP00000400549:G43C;ENSP00000409859:G43C;ENSP00000416356:G1C	ENSP00000002829:G43C	G	+	1	0	SEMA3F	50186244	1.000000	0.71417	0.798000	0.32154	0.001000	0.01503	7.802000	0.85969	1.361000	0.45981	-0.136000	0.14681	GGC			0.572	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345929.1		NM_004186		T	50211240	G	T	50211240	3	4	96	1	0	0	0	0	1	0	0	0	14052	1000	35	3	133	3	SEMA3F	3	50211240	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	520364	50211240	147811190	135	6920											
STAB1	23166	broad.mit.edu	37	chr3	52539151	52539151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccctctgggacccctgggGatcccaaggtgagccagcat	7	6	12	16	0	1	1	0	1	1	0	2	3	2	3	6	4	2	1	6	4	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:52539151G>T	ENST00000321725.6	+	13	1586	c.1510G>T	c.(1510-1512)Gat>Tat	p.D504Y		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																																					p.D504Y													STAB1,NS,malignant_melanoma,0,1	STAB1	178	1	0			c.G1510T												59	67	64					3																	52539151		2203	4300	6503	SO:0001583	missense	23166	exon13			CCTGGGGATCCCA	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>T	3.37:g.52539151G>T	ENSP00000312946:p.Asp504Tyr		175	0	0		209	0.02	5	NM_015136	0		0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985995	0.74589	.	.	ENSG00000010327	ENST00000321725	D	0.85773	-2.03	5.46	5.46	0.80206	FAS1 domain (1);	0.237542	0.36134	N	0.002775	D	0.85986	0.5825	N	0.24115	0.695	0.40498	D	0.980618	D;D	0.69078	0.997;0.993	P;D	0.63113	0.905;0.911	D	0.88031	0.2775	10	0.72032	D	0.01	.	14.8512	0.70297	0.0:0.0:1.0:0.0	.	504;504	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	Y	504	ENSP00000312946:D504Y	ENSP00000312946:D504Y	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		T	52539151	G	T	52539151	3	4	96	1	0	0	0	0	1	0	0	0	15260	1174	41	3	1560	3	STAB1	3	52539151	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2327911	52539151	145483279	136	6921											
IL17RB	55540	broad.mit.edu	37	chr3	53889325	53889325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcattcaaatttccaggctgCctagaccacataatgaaata	15	11	5	10	0	2	2	2	1	0	1	3	2	3	2	3	1	1	1	3	1	5	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:53889325C>T	ENST00000288167.3	+	6	495	c.486C>T	c.(484-486)tgC>tgT	p.C162C		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	162					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TTCCAGGCTGCCTAGACCACA	0.393																																					p.C162C													.	IL17RB	27		0			c.C486T												38	39	39					3																	53889325		2203	4300	6503	SO:0001819	synonymous_variant	55540	exon6			AGGCTGCCTAGAC	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.486C>T	3.37:g.53889325C>T			226	0	0		322	0.01	4	NM_018725	2	0	0	Q9BPZ0|Q9NRL4|Q9NRM5	Silent	SNP	ENST00000288167.3	37	CCDS2874.1																																																																																					0.393	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350563.1		NM_172234		T	53889325	C	T	53889325	2	4	96	1	0	0	0	0	0	0	0	1	7655	747	26	2		2	IL17RB	3	53889325	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1350174	53889325	144133105	137	6922											
SLMAP	7871	broad.mit.edu	37	chr3	57857388	57857388	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgctttcaaagagtggcggGgactgcacttttattcatca	9	14	10	8	1	3	1	3	0	0	1	3	2	3	2	0	3	2	2	0	3	2	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:57857388G>T	ENST00000428312.1	+	12	1306	c.1212G>T	c.(1210-1212)ggG>ggT	p.G404G	SLMAP_ENST00000295951.3_Silent_p.G387G|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000383718.3_Intron|SLMAP_ENST00000295952.3_Silent_p.G387G|SLMAP_ENST00000416870.1_5'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	404					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGAGTGGCGGGGACTGCACTT	0.363																																					p.G387G													.	SLMAP	46		0			c.G1161T												90	95	94					3																	57857388		2203	4300	6503	SO:0001819	synonymous_variant	7871	exon11			TGGCGGGGACTGC	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1212G>T	3.37:g.57857388G>T			198	0.0050505051	1		263	0.01	3	NM_007159	0		0	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37																																																																																						0.363	SLMAP-013	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351584.1		NM_007159		T	57857388	G	T	57857388	2	4	96	1	0	0	0	0	0	0	0	1	14772	1219	43	3		3	SLMAP	3	57857388	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3968063	57857388	140165042	138	6923											
DNASE1L3	1776	broad.mit.edu	37	chr3	58183671	58183671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttggggacgtagctgCagccggcattgaagtcaccc	7	9	12	13	2	2	1	1	1	1	0	2	2	2	2	3	3	3	4	3	3	2	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:58183671C>T	ENST00000394549.2	-	6	897	c.581G>A	c.(580-582)tGc>tAc	p.C194Y	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.C194Y|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.C194Y|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.C164Y	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	194					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)		GACGTAGCTGCAGCCGGCATT	0.517																																					p.C194Y	Esophageal Squamous(96;1069 1424 4841 43466 52325)												.	DNASE1L3	36		0			c.G581A												82	80	80					3																	58183671		2203	4300	6503	SO:0001583	missense	1776	exon6			TAGCTGCAGCCGG	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.581G>A	3.37:g.58183671C>T	ENSP00000378053:p.Cys194Tyr		125	0.008	1		204	0.02	4	NM_004944	0		0	B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807358	0.90623	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.25	5.25	0.73442	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	M	0.91300	3.195	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	0.83703	0.0183	10	0.72032	D	0.01	.	19.0335	0.92967	0.0:1.0:0.0:0.0	.	164;194;194	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	Y	164;194;194;194;68;194	ENSP00000419052:C164Y;ENSP00000316193:C194Y;ENSP00000417047:C194Y;ENSP00000417976:C68Y;ENSP00000378053:C194Y	ENSP00000316193:C194Y	C	-	2	0	DNASE1L3	58158711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.738000	0.93877	0.591000	0.81541	TGC			0.517	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353533.1		NM_004944		T	58183671	C	T	58183671	3	4	96	1	0	0	0	0	1	0	0	0	4668	710	25	2	348	2	DNASE1L3	3	58183671	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	326283	58183671	139838759	139	6924											
KBTBD8	84541	broad.mit.edu	37	chr3	67054481	67054481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatgatttctggatgtatGatcattccaccaatagatgg	14	13	8	6	0	2	3	1	2	1	1	3	4	3	4	2	2	0	1	2	2	5	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:67054481G>C	ENST00000417314.2	+	3	1139	c.1090G>C	c.(1090-1092)Gat>Cat	p.D364H	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.D338H			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	364						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)		CTGGATGTATGATCATTCCAC	0.443																																					p.D364H													.	KBTBD8	101		0			c.G1090C												135	123	127					3																	67054481		2203	4300	6503	SO:0001583	missense	84541	exon3			ATGTATGATCATT	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.1090G>C	3.37:g.67054481G>C	ENSP00000401878:p.Asp364His		159	0	0		201	0.02	5	NM_032505	4	0	0	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194211	0.78902	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	D;D	0.88354	-2.37;-2.37	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.043606	0.85682	D	0.000000	D	0.91744	0.7389	L	0.48642	1.525	0.80722	D	1	D	0.53462	0.96	P	0.59948	0.866	D	0.90290	0.4322	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	364	Q8NFY9	KBTB8_HUMAN	H	338;364	ENSP00000295568:D338H;ENSP00000401878:D364H	.	D	+	1	0	KBTBD8	67137171	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.772000	0.98984	2.676000	0.91093	0.557000	0.71058	GAT			0.443	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352189.1		NM_032505		C	67054481	G	C	67054481	3	2	96	1	0	0	0	0	1	0	0	0	8014	1290	45	5	1100	5	KBTBD8	3	67054481	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8870810	67054481	130967949	140	6925											
OR5H1	26341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	97852456	97852456	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcattcacaaaaatgttAaaaaaacatgttaaggtttc	17	14	5	5	0	2	0	2	0	0	0	3	0	2	0	0	1	1	4	0	1	7	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:97852456A>C	ENST00000354565.2	+	1	915	c.915A>C	c.(913-915)ttA>ttC	p.L305F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, 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)	p.H308fs*3(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CAAAAATGTTAAAAAAACATG	0.323																																					p.L305F													.	.			1	Insertion - Frameshift(1)	large_intestine(1)	c.A915C												55	60	58					3																	97852456		2201	4298	6499	SO:0001583	missense	26341	exon1			AATGTTAAAAAAA	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.915A>C	3.37:g.97852456A>C	ENSP00000346575:p.Leu305Phe		90	0	0		133	0.16	21	NM_001005338	0		0		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	2.825	-0.243898	0.05906	.	.	ENSG00000231192	ENST00000354565	T	0.42131	0.98	3.48	0.982	0.19762	.	0.284658	0.19339	N	0.116688	T	0.25791	0.0628	L	0.31926	0.97	0.09310	N	1	B	0.11235	0.004	B	0.18263	0.021	T	0.13980	-1.0489	10	0.37606	T	0.19	.	3.2002	0.06647	0.5461:0.2165:0.2374:0.0	.	305	A6NKK0	OR5H1_HUMAN	F	305	ENSP00000346575:L305F	ENSP00000346575:L305F	L	+	3	2	OR5H1	99335146	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.438000	0.06905	0.020000	0.15106	-1.355000	0.01225	TTA			0.323	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359100.2		NM_001005338		C	97852456	A	C	97852456	3	2	96	1	0	0	0	0	1	0	0	0	11176	359	13	4	917	4	OR5H1	3	97852456	Missense_Mutation	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	30797975	97852456	100169974	141	6926											
C3orf26	84319	broad.mit.edu	37	chr3	99881276	99881276	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaactgaacctgccaGgtatagccaagcttcaattt	14	10	8	9	0	1	3	1	1	0	2	1	3	1	3	3	1	5	2	3	1	8	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:99881276G>T	ENST00000421999.2	+	4	501	c.355G>T	c.(355-357)Gac>Tac	p.D119Y	CMSS1_ENST00000489081.1_Splice_Site_p.D101Y	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	119							poly(A) RNA binding (GO:0044822)										GAACCTGCCAGGTATAGCCAA	0.423																																					p.D119Y													.	.			0			c.G355T												75	78	77					3																	99881276		2203	4300	6503	SO:0001630	splice_region_variant	84319	exon4			CTGCCAGGTATAG		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.355+1G>T	3.37:g.99881276G>T			143	0	0		229	0.01	3	NM_032359	392	0	0	A8K5S7|B4DUM1|E9PHS3	Splice_Site	SNP	ENST00000421999.2	37	CCDS2935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.146753|4.146753	0.77888|0.77888	.|.	.|.	ENSG00000184220|ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909|ENST00000497345	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.087408|.	0.85682|.	D|.	0.000000|.	T|T	0.73048|0.73048	0.3537|0.3537	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.69320|0.69320	-0.5176|-0.5176	9|5	.|.	.|.	.|.	.|.	18.6822|18.6822	0.91549|0.91549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	119|.	Q9BQ75|.	CC026_HUMAN|.	Y|I	119;101;75|27	ENSP00000410396:D119Y;ENSP00000419161:D101Y;ENSP00000417293:D75Y|.	.|.	D|R	+|+	1|2	0|0	C3orf26|C3orf26	101363966|101363966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.309000|7.309000	0.78937|0.78937	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GAC|AGA			0.423	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353060.1		NM_032359	Missense_Mutation	T	99881276	G	T	99881276	5	4	96	1	0	0	0	0	0	0	1	0	2220	1014	35	3	383	3	C3orf26	3	99881276	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2028820	99881276	98141154	142	6927											
TFG	10342	broad.mit.edu	37	chr3	100455557	100455558	+	Frame_Shift_Ins	INS	-	-	A																															gactcaagcaggtcagattgINSaaggtaaaatagagtttaga																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:100455557_100455558insA	ENST00000240851.4	+	6	1058_1059	c.718_719insA	c.(718-720)gaafs	p.E240fs	TFG_ENST00000418917.2_Intron|TFG_ENST00000490574.1_Frame_Shift_Ins_p.E240fs|TFG_ENST00000476228.1_Intron	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	240					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						AGGTCAGATTGAAGGTAAAATA	0.446			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																p.E240fs				Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	.	TFG	42		0			c.718_719insA																																									SO:0001589	frameshift_variant	10342	exon6			CAGATTGAAGGTA	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.720dupA	3.37:g.100455559_100455559dupA	ENSP00000240851:p.Glu240fs		170	0	0		292	0.02	7	NM_001007565	197	0	0	D3DN49|G5E9V1|Q15656|Q969I2	Frame_Shift_Ins	INS	ENST00000240851.4	37	CCDS2939.1																																																																																					0.446	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353242.1		NM_006070		A	100455558	-	A	100455557	7	5	96	1	0	1	1	0	0	0	0	0	15829	1291	45	0	736	0	TFG	3	100455557	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	574281	100455557	97566873	143	6928											
NFKBIZ	64332	broad.mit.edu	37	chr3	101574033	101574033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatgtgtgtgctgagaaggGccactcccaggtgcttcagg	7	9	15	10	0	1	1	1	1	0	1	2	2	2	1	2	3	2	3	2	3	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:101574033G>T	ENST00000326172.5	+	7	1686	c.1571G>T	c.(1570-1572)gGc>gTc	p.G524V	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G402V|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G424V	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	524	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GCTGAGAAGGGCCACTCCCAG	0.517																																					p.G524V													.	NFKBIZ	55		0			c.G1571T												74	79	77					3																	101574033		2203	4300	6503	SO:0001583	missense	64332	exon7			AGAAGGGCCACTC	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1571G>T	3.37:g.101574033G>T	ENSP00000325663:p.Gly524Val		184	0.0054347826	1		271	0.01	3	NM_031419	0		0	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333706	0.81801	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87888	0.6291	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.991;0.998	D	0.89518	0.3776	10	0.87932	D	0	-21.3353	19.922	0.97089	0.0:0.0:1.0:0.0	.	402;524	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	V	424;424;402;524	ENSP00000419800:G424V;ENSP00000377618:G424V;ENSP00000325593:G402V;ENSP00000325663:G524V	ENSP00000325593:G402V	G	+	2	0	NFKBIZ	103056723	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.399000	0.97285	2.780000	0.95670	0.655000	0.94253	GGC			0.517	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000353793.1		NM_031419		T	101574033	G	T	101574033	3	4	96	1	0	0	0	0	1	0	0	0	10400	1203	42	2	1597	2	NFKBIZ	3	101574033	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1118476	101574033	96448397	144	6929											
ATP6V1A	523	broad.mit.edu	37	chr3	113513972	113513972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctatcttggtgcccgtctgGcctcgttttatgaacgagca	6	13	10	12	3	2	1	0	1	2	0	3	2	2	1	3	2	3	2	3	2	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:113513972G>T	ENST00000273398.3	+	10	1255	c.1147G>T	c.(1147-1149)Gcc>Tcc	p.A383S	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.A350S	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	383					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)	TGCCCGTCTGGCCTCGTTTTA	0.443																																					p.A383S													.	ATP6V1A	71		0			c.G1147T												59	60	60					3																	113513972		2203	4300	6503	SO:0001583	missense	523	exon10			CGTCTGGCCTCGT	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.1147G>T	3.37:g.113513972G>T	ENSP00000273398:p.Ala383Ser		129	0.007751938	1		168	0.04	6	NM_001690	11	0	0	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288860	0.95517	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.79940	-1.32;-1.32	5.8	5.8	0.92144	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	L	0.46819	1.47	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.87477	0.2418	10	0.62326	D	0.03	-14.2885	20.0693	0.97712	0.0:0.0:1.0:0.0	.	383	P38606	VATA_HUMAN	S	100;383;350	ENSP00000273398:A383S;ENSP00000439874:A350S	ENSP00000273398:A383S	A	+	1	0	ATP6V1A	114996662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	GCC			0.443	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354457.1		NM_001690		T	113513972	G	T	113513972	3	4	96	1	0	0	0	0	1	0	0	0	1177	1203	42	2	1181	2	ATP6V1A	3	113513972	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	11939939	113513972	84508458	145	6930											
STXBP5L	9515	broad.mit.edu	37	chr3	120764286	120764286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttctttttgttctagggtgCcttggtcagtgcaagttcag	5	17	11	8	0	4	0	2	0	2	0	4	0	4	0	1	2	2	3	1	2	2	7	rs375292809		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:120764286C>T	ENST00000273666.6	+	5	645	c.374C>T	c.(373-375)gCc>gTc	p.A125V	STXBP5L_ENST00000471454.1_Missense_Mutation_p.A125V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A125V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A125V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A125V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	125					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)		TTCTAGGGTGCCTTGGTCAGT	0.353																																					p.A125V													STXBP5L,colon,carcinoma,0,2	STXBP5L	159	2	0			c.C374T							C	VAL/ALA	1,3687		0,1,1843	167	161	163		374	5.4	1	3		163	0,8172		0,0,4086	no	missense	STXBP5L	NM_014980.2	64	0,1,5929	TT,TC,CC		0.0,0.0271,0.0084	probably-damaging	125/1187	120764286	1,11859	1844	4086	5930	SO:0001583	missense	9515	exon5			AGGGTGCCTTGGT	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.374C>T	3.37:g.120764286C>T	ENSP00000273666:p.Ala125Val		202	0	0		282	0.01	4	NM_014980	0		0	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440950	0.96168	2.71E-4	0.0	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.52754	0.65;1.66;0.65;0.65;1.66;0.75;1.66	5.43	5.43	0.79202	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	0.71459	0.3342	M	0.86573	2.825	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.69752	-0.5060	10	0.18276	T	0.48	-12.0368	18.2281	0.89924	0.0:1.0:0.0:0.0	.	125;125	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	125	ENSP00000273666:A125V;ENSP00000420019:A125V;ENSP00000419627:A125V;ENSP00000420287:A125V;ENSP00000420666:A125V;ENSP00000419404:A125V;ENSP00000420167:A125V	ENSP00000273666:A125V	A	+	2	0	STXBP5L	122246976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.958000	0.76025	2.543000	0.85770	0.655000	0.94253	GCC			0.353	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355256.3				T	120764286	C	T	120764286	3	4	96	1	0	0	0	0	1	0	0	0	15380	739	26	2	388	2	STXBP5L	3	120764286	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	7250314	120764286	77258144	146	6931											
POLQ	10721	broad.mit.edu	37	chr3	121207058	121207058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttggacaggaaatatatCcacattgtccaaagcttcaa	14	11	6	10	0	2	0	1	0	1	0	4	2	4	2	2	2	1	1	2	2	5	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:121207058C>A	ENST00000264233.5	-	16	4848	c.4720G>T	c.(4720-4722)Gat>Tat	p.D1574Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1574					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)		GGAAATATATCCACATTGTCC	0.383								DNA polymerases (catalytic subunits)																													p.D1574Y	Pancreas(152;907 1925 26081 31236 36904)												.	POLQ	273		0			c.G4720T												99	95	97					3																	121207058		2203	4300	6503	SO:0001583	missense	10721	exon16			ATATATCCACATT	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.4720G>T	3.37:g.121207058C>A	ENSP00000264233:p.Asp1574Tyr		90	0	0		137	0.04	5	NM_199420	3	0	0	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	6.790	0.514787	0.12944	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.51325	0.71	5.65	2.85	0.33270	.	1.034330	0.07590	N	0.921873	T	0.44117	0.1278	L	0.27053	0.805	0.09310	N	1	D;D	0.59767	0.979;0.986	P;P	0.54100	0.707;0.742	T	0.27297	-1.0078	10	0.62326	D	0.03	.	2.743	0.05259	0.2586:0.4716:0.1255:0.1443	.	1574;746	O75417;O75417-2	DPOLQ_HUMAN;.	Y	1197;1574;1710	ENSP00000264233:D1574Y	ENSP00000264233:D1574Y	D	-	1	0	POLQ	122689748	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.382000	0.20635	0.459000	0.27016	0.655000	0.94253	GAT			0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355097.1		NM_199420		A	121207058	C	A	121207058	3	1	96	1	0	0	0	0	1	0	0	0	12225	855	30	3	3112	3	POLQ	3	121207058	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	442772	121207058	76815372	147	6932											
CASR	846	broad.mit.edu	37	chr3	121980486	121980486	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatggcagacatcatcGagtatttccgctggaactgg	9	10	11	11	2	1	1	1	0	0	1	3	3	2	2	2	3	2	3	2	3	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:121980486G>T	ENST00000490131.1	+	4	976	c.604G>T	c.(604-606)Gag>Tag	p.E202*	CASR_ENST00000296154.5_Nonsense_Mutation_p.E202*|CASR_ENST00000498619.1_Nonsense_Mutation_p.E202*	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	202					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGACATCATCGAGTATTTCCG	0.527																																					p.E202X													.	CASR	190		0			c.G604T												122	129	127					3																	121980486		2203	4300	6503	SO:0001587	stop_gained	846	exon4			ATCATCGAGTATT	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.604G>T	3.37:g.121980486G>T	ENSP00000418685:p.Glu202*		169	0.0118343195	2		249	0.02	5	NM_001178065	0		0	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Nonsense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381907	0.95967	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	.	.	.	5.78	5.78	0.91487	.	0.097898	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000296154:E202X	E	+	1	0	CASR	123463176	1.000000	0.71417	0.967000	0.41034	0.728000	0.41692	9.813000	0.99286	2.894000	0.99253	0.591000	0.81541	GAG			0.527	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355761.1		NM_000388		T	121980486	G	T	121980486	4	4	96	1	0	0	0	0	0	1	0	0	2684	1059	37	1	614	1	CASR	3	121980486	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	773428	121980486	76041944	148	6933											
KPNA1	3836	broad.mit.edu	37	chr3	122168466	122168466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactcccgcatcgatgaccGcttgaattttatcattgggt	9	14	8	10	3	1	2	1	2	0	0	3	3	2	2	2	1	1	2	2	1	3	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:122168466G>A	ENST00000344337.6	-	9	1048	c.872C>T	c.(871-873)gCg>gTg	p.A291V	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	291	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)		ATCGATGACCGCTTGAATTTT	0.453																																					p.A291V	Melanoma(12;340 801 11196 19797)												.	KPNA1	42		0			c.C872T												88	81	84					3																	122168466		2203	4300	6503	SO:0001583	missense	3836	exon9			ATGACCGCTTGAA	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.872C>T	3.37:g.122168466G>A	ENSP00000343701:p.Ala291Val		371	0.0053908356	2		495	0.01	4	NM_002264	49	0	0	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461684	0.84425	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	T;T	0.71817	-0.6;-0.6	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.66378	2.025	0.80722	D	1	P	0.44986	0.847	B	0.35278	0.199	T	0.72959	-0.4133	10	0.46703	T	0.11	-15.1028	17.703	0.88301	0.0:0.0:1.0:0.0	.	291	P52294	IMA1_HUMAN	V	291	ENSP00000343701:A291V;ENSP00000419890:A291V	ENSP00000343701:A291V	A	-	2	0	KPNA1	123651156	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.263000	0.95617	2.644000	0.89710	0.563000	0.77884	GCG			0.453	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355740.1		NM_002264		A	122168466	G	A	122168466	3	1	96	1	0	0	0	0	1	0	0	0	8444	1087	38	1	768	1	KPNA1	3	122168466	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	187980	122168466	75853964	149	6934											
ADCY5	111	broad.mit.edu	37	chr3	123010141	123010141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcgggccaggaagtgagcgGccacgtccttgggcaggatg	7	5	18	11	4	0	1	0	1	0	0	1	3	1	3	3	5	1	1	3	5	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:123010141G>T	ENST00000462833.1	-	18	4358	c.3146C>A	c.(3145-3147)gCc>gAc	p.A1049D	ADCY5_ENST00000309879.5_Missense_Mutation_p.A699D|ADCY5_ENST00000491190.1_Missense_Mutation_p.A707D	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1049					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAAGTGAGCGGCCACGTCCTT	0.597																																					p.A1049D													.	ADCY5	169		0			c.C3146A												78	66	70					3																	123010141		2203	4300	6503	SO:0001583	missense	111	exon18			TGAGCGGCCACGT	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3146C>A	3.37:g.123010141G>T	ENSP00000419361:p.Ala1049Asp		216	0.0046296296	1		355	0.02	8	NM_183357	28	0	0	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141837	0.94560	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	D;D;D	0.86097	-1.74;-1.98;-2.07	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.64402	D	0.000001	D	0.94285	0.8164	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.959	D	0.95836	0.8862	10	0.87932	D	0	.	17.4829	0.87679	0.0:0.0:1.0:0.0	.	1049;707	O95622;B3KWA8	ADCY5_HUMAN;.	D	1049;707;699	ENSP00000419361:A1049D;ENSP00000418537:A707D;ENSP00000308685:A699D	ENSP00000308685:A699D	A	-	2	0	ADCY5	124492831	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.650000	0.98490	2.362000	0.80069	0.563000	0.77884	GCC			0.597	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355889.4		XM_171048		T	123010141	G	T	123010141	3	4	96	1	0	0	0	0	1	0	0	0	297	1203	42	2	655	2	ADCY5	3	123010141	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	841675	123010141	75012289	150	6935											
ITGB5	3693	broad.mit.edu	37	chr3	124592308	124592308	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacctctttggagcaccaGgcacattttgggtggattag	9	12	11	9	0	1	0	0	0	1	0	1	2	1	2	2	4	2	2	2	4	2	5	rs200795031		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:124592308G>T	ENST00000296181.4	-	2	437	c.141C>A	c.(139-141)gcC>gcA	p.A47A		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	47	PSI.				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-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGGAGCACCAGGCACATTTTG	0.483																																					p.A47A													.	ITGB5	66		0			c.C141A												277	259	265					3																	124592308		2203	4300	6503	SO:0001819	synonymous_variant	3693	exon2			GCACCAGGCACAT	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.141C>A	3.37:g.124592308G>T			160	0	0		264	0.01	3	NM_002213	85	0	0	B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	CCDS3030.1																																																																																					0.483	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355286.3		NM_002213		T	124592308	G	T	124592308	2	4	96	1	0	0	0	0	0	0	0	1	7913	987	35	3		3	ITGB5	3	124592308	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1582167	124592308	73430122	151	6936											
RAB7A	7879	broad.mit.edu	37	chr3	128516833	128516833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtgaataagaaattcaGcaatcagtacaaagccacaa	19	8	7	7	0	2	2	2	1	0	1	2	2	2	2	1	0	3	3	1	0	8	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:128516833G>T	ENST00000265062.3	+	3	347	c.101G>T	c.(100-102)aGc>aTc	p.S34I	RAB7A_ENST00000482525.1_Missense_Mutation_p.S34I|RAB7A_ENST00000485280.1_Missense_Mutation_p.S34I	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	34					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		AAGAAATTCAGCAATCAGTAC	0.428																																					p.S34I													.	RAB7A	17		0			c.G101T												154	135	141					3																	128516833		2203	4300	6503	SO:0001583	missense	7879	exon3			AATTCAGCAATCA	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"RAB, member RAS oncogene"	9788	protein-coding gene	gene with protein product		602298	"RAB7, member RAS oncogene family"	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.101G>T	3.37:g.128516833G>T	ENSP00000265062:p.Ser34Ile		242	0	0		302	0.02	5	NM_004637	769	0	0	A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960047	0.74016	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000493186;ENST00000483906;ENST00000485280	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.69	3.9	0.45041	Small GTP-binding protein domain (1);	.	.	.	.	T	0.69070	0.3070	L	0.35414	1.06	0.58432	D	0.999995	B;B	0.31968	0.106;0.349	B;B	0.39152	0.292;0.148	T	0.66264	-0.5967	9	0.62326	D	0.03	-26.8617	6.6436	0.22923	0.0684:0.1292:0.6682:0.1342	.	34;34	C9J8S3;P51149	.;RAB7A_HUMAN	I	34	ENSP00000265062:S34I;ENSP00000417668:S34I;ENSP00000417978:S34I;ENSP00000418955:S34I;ENSP00000417189:S34I;ENSP00000417155:S34I;ENSP00000418283:S34I	ENSP00000265062:S34I	S	+	2	0	RAB7A	129999523	1.000000	0.71417	0.949000	0.38748	0.977000	0.68977	7.068000	0.76748	0.768000	0.33290	-0.169000	0.13324	AGC			0.428	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357479.1				T	128516833	G	T	128516833	3	4	96	1	0	0	0	0	1	0	0	0	12977	971	34	2	107	2	RAB7A	3	128516833	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3924525	128516833	69505597	152	6937											
TMCC1	23023	broad.mit.edu	37	chr3	129370502	129370502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaggactgccatgacaGccaggaggatgttgatgagt	13	7	13	8	0	0	3	0	3	0	0	0	6	0	6	3	3	2	1	3	3	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:129370502G>T	ENST00000393238.3	-	6	2124	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	TMCC1_ENST00000426664.2_Missense_Mutation_p.A481D|TMCC1_ENST00000432054.2_Missense_Mutation_p.A271D|TMCC1_ENST00000329333.5_Missense_Mutation_p.A416D	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	595						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						TGCCATGACAGCCAGGAGGAT	0.547																																					p.A595D													.	TMCC1	105		0			c.C1784A												160	141	147					3																	129370502		2203	4300	6503	SO:0001583	missense	23023	exon6			ATGACAGCCAGGA	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.1784C>A	3.37:g.129370502G>T	ENSP00000376930:p.Ala595Asp		156	0	0		191	0.02	3	NM_001017395	22	0	0	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936934	0.73557	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	T	0.76013	-0.3114	10	0.66056	D	0.02	-10.7531	19.0697	0.93127	0.0:0.0:1.0:0.0	.	416;595	B4DE04;O94876	.;TMCC1_HUMAN	D	271;595;481;416	ENSP00000404711:A271D;ENSP00000376930:A595D;ENSP00000389892:A481D;ENSP00000327349:A416D	ENSP00000327349:A416D	A	-	2	0	TMCC1	130853192	1.000000	0.71417	0.972000	0.41901	0.829000	0.46940	9.651000	0.98493	2.744000	0.94065	0.650000	0.86243	GCT			0.547	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356418.2		NM_015008		T	129370502	G	T	129370502	3	4	96	1	0	0	0	0	1	0	0	0	16015	971	34	2	181	2	TMCC1	3	129370502	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	853669	129370502	68651928	153	6938											
COL6A5	256076	broad.mit.edu	37	chr3	130107651	130107651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttctgatgcaatagataGaatgtctctcatcaatgaag	15	13	7	6	0	4	4	2	2	2	2	5	4	4	4	0	0	1	1	0	0	7	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:130107651G>T	ENST00000432398.2	+	6	2584	c.2090G>T	c.(2089-2091)aGa>aTa	p.R697I	COL6A5_ENST00000265379.6_Missense_Mutation_p.R697I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	697	Nonhelical region.|VWFA 4. {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 region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCAATAGATAGAATGTCTCTC	0.393																																					p.R697I													.	COL6A5	205		0			c.G2090T												48	42	44					3																	130107651		692	1591	2283	SO:0001583	missense	256076	exon6			TAGATAGAATGTC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2090G>T	3.37:g.130107651G>T	ENSP00000390895:p.Arg697Ile		158	0.0126582278	2		225	0.01	3	NM_153264	0		0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	13.32	2.201346	0.38905	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.78924	-1.22;-1.22	5.59	3.72	0.42706	.	.	.	.	.	D	0.86171	0.5869	M	0.87456	2.885	0.28827	N	0.897344	P	0.43578	0.811	P	0.51550	0.673	T	0.81444	-0.0930	9	0.54805	T	0.06	.	14.8133	0.70010	0.0:0.2747:0.7253:0.0	.	697	A8TX70-2	.	I	697	ENSP00000390895:R697I;ENSP00000265379:R697I	ENSP00000265379:R697I	R	+	2	0	COL6A5	131590341	0.000000	0.05858	0.081000	0.20488	0.875000	0.50365	-0.402000	0.07223	0.661000	0.30985	0.650000	0.86243	AGA			0.393	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_153264		T	130107651	G	T	130107651	3	4	96	1	0	0	0	0	1	0	0	0	3704	942	33	3	2108	3	COL6A5	3	130107651	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	737149	130107651	67914779	154	6939											
DNAJC13	23317	broad.mit.edu	37	chr3	132202314	132202314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacttcagtccataccccaGcttaagtggtgtctcttagc	8	12	7	14	0	2	0	1	0	1	0	4	0	3	0	4	1	3	1	4	1	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:132202314G>T	ENST00000260818.6	+	28	3323	c.3075G>T	c.(3073-3075)caG>caT	p.Q1025H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1025					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						CCATACCCCAGCTTAAGTGGT	0.443																																					p.Q1025H													.	DNAJC13	253		0			c.G3075T												177	149	159					3																	132202314		2203	4300	6503	SO:0001583	missense	23317	exon28			ACCCCAGCTTAAG	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.3075G>T	3.37:g.132202314G>T	ENSP00000260818:p.Gln1025His		196	0	0		284	0.01	4	NM_015268	5	0	0	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736749	0.89482	.	.	ENSG00000138246	ENST00000260818	T	0.21361	2.01	5.87	4.99	0.66335	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.84683	2.71	0.80722	D	1	D	0.63046	0.992	D	0.72075	0.976	T	0.55134	-0.8188	10	0.87932	D	0	.	15.9441	0.79779	0.0675:0.0:0.9325:0.0	.	1025	O75165	DJC13_HUMAN	H	1025	ENSP00000260818:Q1025H	ENSP00000260818:Q1025H	Q	+	3	2	DNAJC13	133685004	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.663000	0.68038	2.941000	0.99782	0.655000	0.94253	CAG			0.443	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356807.2		NM_015268		T	132202314	G	T	132202314	3	4	96	1	0	0	0	0	1	0	0	0	4637	962	34	2	3181	2	DNAJC13	3	132202314	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2094663	132202314	65820116	155	6940											
TOPBP1	11073	broad.mit.edu	37	chr3	133327786	133327786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccacatgtaaaataacCttccacccactaaatgctcc	14	10	3	14	0	0	1	0	1	0	0	3	1	3	1	5	0	2	2	5	0	5	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:133327786C>A	ENST00000260810.5	-	26	4325	c.4194G>T	c.(4192-4194)aaG>aaT	p.K1398N		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1398	BRCT 8. {ECO:0000255|PROSITE- ProRule:PRU00033}.				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						GTAAAATAACCTTCCACCCAC	0.348								Other conserved DNA damage response genes																													p.K1398N	Ovarian(21;193 658 4424 15423 17362)												.	TOPBP1	218		0			c.G4194T												79	75	76					3																	133327786		1826	4089	5915	SO:0001583	missense	11073	exon26			AATAACCTTCCAC	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.4194G>T	3.37:g.133327786C>A	ENSP00000260810:p.Lys1398Asn		392	0	0		593	0.01	5	NM_007027	171	0	0	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312312	0.40895	.	.	ENSG00000163781	ENST00000260810	T	0.14022	2.54	5.57	0.632	0.17705	.	0.146062	0.64402	D	0.000006	T	0.12860	0.0312	L	0.44542	1.39	0.38160	D	0.939001	D	0.54047	0.964	B	0.43838	0.433	T	0.07888	-1.0749	10	0.52906	T	0.07	.	11.2063	0.48771	0.0:0.4641:0.0:0.5359	.	1398	Q92547	TOPB1_HUMAN	N	1398	ENSP00000260810:K1398N	ENSP00000260810:K1398N	K	-	3	2	TOPBP1	134810476	0.055000	0.20627	0.998000	0.56505	0.959000	0.62525	-0.648000	0.05391	0.043000	0.15746	0.655000	0.94253	AAG			0.348	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357254.1		NM_007027		A	133327786	C	A	133327786	3	1	96	1	0	0	0	0	1	0	0	0	16393	680	24	3	386	3	TOPBP1	3	133327786	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1125472	133327786	64694644	156	6941											
ESYT3	83850	broad.mit.edu	37	chr3	138191495	138191495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccaaaaggttctgtgaGcccatcggggagaagaagag	13	6	15	7	1	1	4	0	1	1	3	2	5	1	4	2	3	2	1	2	3	4	1	rs372734965		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:138191495G>T	ENST00000389567.4	+	18	2217	c.2031G>T	c.(2029-2031)gaG>gaT	p.E677D		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	677					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGTTCTGTGAGCCCATCGGGG	0.587																																					p.E677D													.	ESYT3	64		0			c.G2031T							G	ASP/GLU	0,4252		0,0,2126	110	129	123		2031	1.7	1	3		123	1,8467		0,1,4233	no	missense	ESYT3	NM_031913.3	45	0,1,6359	TT,TG,GG		0.0118,0.0,0.0079	probably-damaging	677/887	138191495	1,12719	2126	4234	6360	SO:0001583	missense	83850	exon18			CTGTGAGCCCATC	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2031G>T	3.37:g.138191495G>T	ENSP00000374218:p.Glu677Asp		118	0	0		207	0.01	3	NM_031913	15	0	0	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498492	0.44455	0.0	1.18E-4	ENSG00000158220	ENST00000389567	T	0.38077	1.16	4.97	1.67	0.24075	.	0.812959	0.10499	N	0.667488	T	0.30386	0.0763	L	0.44542	1.39	0.30767	N	0.743414	D	0.58268	0.982	P	0.46718	0.525	T	0.23297	-1.0192	10	0.14656	T	0.56	-8.5812	6.4366	0.21827	0.3882:0.0:0.6118:0.0	.	677	A0FGR9	ESYT3_HUMAN	D	677	ENSP00000374218:E677D	ENSP00000374218:E677D	E	+	3	2	ESYT3	139674185	0.856000	0.29760	0.975000	0.42487	0.985000	0.73830	0.560000	0.23500	0.475000	0.27415	0.462000	0.41574	GAG			0.587	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000303993.1		NM_031913		T	138191495	G	T	138191495	3	4	96	1	0	0	0	0	1	0	0	0	5273	962	34	2	2101	2	ESYT3	3	138191495	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4863709	138191495	59830935	157	6942											
CEP70	80321	broad.mit.edu	37	chr3	138219304	138219305	+	Frame_Shift_Ins	INS	-	-	T																															tctccaagcctagtataaacINSttcattcattcggggataga																								rs370409745		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:138219304_138219305insT	ENST00000264982.3	-	15	1739_1740	c.1473_1474insA	c.(1471-1476)gaagttfs	p.V492fs	CEP70_ENST00000484888.1_Frame_Shift_Ins_p.V492fs|CEP70_ENST00000542237.1_Frame_Shift_Ins_p.V472fs|CEP70_ENST00000489254.1_Frame_Shift_Ins_p.V340fs|CEP70_ENST00000481834.1_Frame_Shift_Ins_p.V492fs	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	492					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTAGTATAAACTTCATTCATTC	0.376																																					p.V492fs													.	CEP70	51		0			c.1474_1475insA																																									SO:0001589	frameshift_variant	80321	exon15			TATAAACTTCATT	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1474dupA	3.37:g.138219306_138219306dupT	ENSP00000264982:p.Val492fs		349	0	0		519	0.01	7	NM_024491	102	0	0	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Frame_Shift_Ins	INS	ENST00000264982.3	37	CCDS3102.1																																																																																					0.376	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000358001.1		NM_024491		T	138219305	-	T	138219304	7	5	96	1	0	1	1	0	0	0	0	0	3261	565	20	0	335	0	CEP70	3	138219304	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	27809	138219304	59803126	158	6943											
RASA2	5922	broad.mit.edu	37	chr3	141235273	141235273	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaaagagatctccgtataGgtatgtactattcataatta	15	14	6	6	1	2	1	1	0	1	1	3	2	2	1	1	1	2	3	1	1	9	9			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:141235273G>T	ENST00000452898.1	+	3	390	c.355G>T	c.(355-357)Gga>Tga	p.G119*	RASA2_ENST00000286364.3_Splice_Site_p.G119*	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	119	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TCTCCGTATAGGTATGTACTA	0.259																																					p.G119X													.	RASA2	169		0			c.G355T												43	48	46					3																	141235273		2187	4256	6443	SO:0001630	splice_region_variant	5922	exon3			CGTATAGGTATGT	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.355+1G>T	3.37:g.141235273G>T			181	0.0055248619	1		274	0.02	6	NM_006506	0		0	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Splice_Site	SNP	ENST00000452898.1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.100184	0.94245	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8713	0.88812	0.0:0.0:1.0:0.0	.	.	.	.	X	119	.	ENSP00000286364:G119X	G	+	1	0	RASA2	142717963	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.276000	0.89894	2.508000	0.84585	0.650000	0.86243	GGA			0.259	RASA2-201	KNOWN	basic	protein_coding	protein_coding				NM_006506	Nonsense_Mutation	T	141235273	G	T	141235273	5	4	96	1	0	0	0	0	0	0	1	0	13084	1014	35	3	365	3	RASA2	3	141235273	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3015969	141235273	56787157	159	6944											
PLS1	5357	broad.mit.edu	37	chr3	142403123	142403123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattgttaaatgaaggtgaGgaactagaggagctgatgaa	15	9	14	3	0	0	5	0	4	0	1	0	7	0	7	0	3	2	3	0	3	6	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:142403123G>T	ENST00000337777.3	+	8	987	c.774G>T	c.(772-774)gaG>gaT	p.E258D	PLS1_ENST00000497002.1_Missense_Mutation_p.E258D|PLS1_ENST00000457734.2_Missense_Mutation_p.E258D	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	258	Actin-binding 1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ATGAAGGTGAGGAACTAGAGG	0.428																																					p.E258D													.	PLS1	71		0			c.G774T												117	110	112					3																	142403123		2203	4300	6503	SO:0001583	missense	5357	exon8			AGGTGAGGAACTA	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.774G>T	3.37:g.142403123G>T	ENSP00000336831:p.Glu258Asp		215	0	0		304	0.01	4	NM_001172312	12	0	0	A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955796	0.53293	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	4.83	-0.0277	0.13925	Calponin homology domain (2);	0.043217	0.85682	D	0.000000	D	0.94155	0.8125	M	0.80183	2.485	0.58432	D	0.999999	B	0.34372	0.451	B	0.30179	0.112	D	0.90062	0.4157	10	0.87932	D	0	-21.8714	8.9347	0.35693	0.5174:0.0:0.4826:0.0	.	258	Q14651	PLSI_HUMAN	D	258;179;258;258	ENSP00000387890:E258D;ENSP00000417481:E179D;ENSP00000336831:E258D;ENSP00000418700:E258D	ENSP00000336831:E258D	E	+	3	2	PLS1	143885813	0.797000	0.28877	0.694000	0.30210	0.993000	0.82548	0.016000	0.13377	0.070000	0.16634	0.591000	0.81541	GAG			0.428	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354435.1		NM_002670		T	142403123	G	T	142403123	3	4	96	1	0	0	0	0	1	0	0	0	12124	991	35	3	800	3	PLS1	3	142403123	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1167850	142403123	55619307	160	6945											
SR140	23350	broad.mit.edu	37	chr3	142733171	142733172	+	Frame_Shift_Ins	INS	-	-	T																															gcctcttctggaaaacaaacINSttaaagcattcagtattgga																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:142733171_142733172insT	ENST00000473835.2	+	4	331_332	c.241_242insT	c.(241-243)cttfs	p.L81fs	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Frame_Shift_Ins_p.L81fs	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	81					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GGAAAACAAACTTAAAGCATTC	0.277																																					p.L81fs													.	U2SURP	66		0			c.241_242insT																																									SO:0001589	frameshift_variant	23350	exon4			AACAAACTTAAAG	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.243dupT	3.37:g.142733173_142733173dupT	ENSP00000418563:p.Leu81fs		451	0	0		604	0.01	6	NM_001080415	52	0	0	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Frame_Shift_Ins	INS	ENST00000473835.2	37	CCDS46928.1																																																																																					0.277	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354603.2		NM_001080415		T	142733172	-	T	142733171	7	5	96	1	0	1	1	0	0	0	0	0	15154	565	20	0	255	0	SR140	3	142733171	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	330048	142733171	55289259	161	6946											
PLOD2	5352	broad.mit.edu	37	chr3	145788627	145788627	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcgtggtgactcaatagaGcaattgtaccttagaaattt	12	15	8	6	1	1	3	1	1	0	2	2	3	1	3	1	1	2	2	1	1	6	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:145788627G>T	ENST00000360060.3	-	19	2268	c.2091C>A	c.(2089-2091)tgC>tgA	p.C697*	RP11-274H2.2_ENST00000480247.1_RNA|RP11-274H2.3_ENST00000490375.1_RNA|PLOD2_ENST00000494950.1_Nonsense_Mutation_p.C663*|PLOD2_ENST00000461497.1_Nonsense_Mutation_p.C378*|RP11-274H2.2_ENST00000494745.2_RNA|PLOD2_ENST00000282903.5_Nonsense_Mutation_p.C718*	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	697	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACTCAATAGAGCAATTGTACC	0.363																																					p.C718X													.	PLOD2	81		0			c.C2154A												55	53	53					3																	145788627		2202	4299	6501	SO:0001587	stop_gained	5352	exon20			AATAGAGCAATTG	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.2091C>A	3.37:g.145788627G>T	ENSP00000353170:p.Cys697*		483	0	0		645	0.01	6	NM_182943	178	0	0	B3KWS3|Q59ED2|Q8N170	Nonsense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	G	41	8.668710	0.98908	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	.	.	.	5.51	5.51	0.81932	.	0.043759	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.4241	19.4073	0.94653	0.0:0.0:1.0:0.0	.	.	.	.	X	378;718;697;663	.	ENSP00000282903:C718X	C	-	3	2	PLOD2	147271317	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.049000	0.49869	2.578000	0.87016	0.585000	0.79938	TGC			0.363	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000355185.1		NM_000935		T	145788627	G	T	145788627	4	4	96	1	0	0	0	0	0	1	0	0	12119	963	34	2	126	2	PLOD2	3	145788627	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3055456	145788627	52233803	162	6947											
PLSCR4	57088	broad.mit.edu	37	chr3	145914479	145914480	+	Frame_Shift_Ins	INS	-	-	T																															gcccacgaactctcatcacaINSttttctttcttctcattttg																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:145914479_145914480insT	ENST00000354952.2	-	7	965_966	c.725_726insA	c.(724-726)aatfs	p.N242fs	PLSCR4_ENST00000433593.2_Frame_Shift_Ins_p.N137fs|PLSCR4_ENST00000383083.2_Frame_Shift_Ins_p.N152fs|PLSCR4_ENST00000493382.1_Frame_Shift_Ins_p.N242fs|PLSCR4_ENST00000446574.2_Frame_Shift_Ins_p.N242fs	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	242					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTCTCATCACATTTTCTTTCTT	0.446																																					p.N242fs													.	PLSCR4	44		0			c.726_727insA																																									SO:0001589	frameshift_variant	57088	exon9			CATCACATTTTCT	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.726dupA	3.37:g.145914483_145914483dupT	ENSP00000347038:p.Asn242fs		349	0	0		514	0.01	4	NM_001128304	3	0	0	A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Frame_Shift_Ins	INS	ENST00000354952.2	37	CCDS3133.1																																																																																					0.446	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355172.1		NM_020353		T	145914480	-	T	145914479	7	5	96	1	0	1	1	0	0	0	0	0	12129	214	8	0	275	0	PLSCR4	3	145914479	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	125852	145914479	52107951	163	6948											
PFN2	5217	broad.mit.edu	37	chr3	149686177	149686178	+	Frame_Shift_Ins	INS	-	-	T																															gccgacagccacattgtatgINSttggctccccaccttgactc																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:149686177_149686178insT	ENST00000239940.7	-	2	544_545	c.292_293insA	c.(292-294)acafs	p.T98fs	PFN2_ENST00000490975.1_Intron|PFN2_ENST00000494827.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000481767.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000497148.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000423691.2_Frame_Shift_Ins_p.T98fs|PFN2_ENST00000489155.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000498307.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000475518.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000461930.1_3'UTR|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000461868.1_Frame_Shift_Ins_p.T98fs|PFN2_ENST00000481275.1_Frame_Shift_Ins_p.T49fs|PFN2_ENST00000452853.2_Frame_Shift_Ins_p.T98fs			P35080	PROF2_HUMAN	profilin 2	98					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACATTGTATGTTGGCTCCCCA	0.455																																					p.T98fs													.	PFN2	23		0			c.293_294insA																																									SO:0001589	frameshift_variant	5217	exon2			TTGTATGTTGGCT	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.293dupA	3.37:g.149686179_149686179dupT	ENSP00000239940:p.Thr98fs		235	0	0		328	0.02	5	NM_002628	450	0	0	B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Frame_Shift_Ins	INS	ENST00000239940.7	37	CCDS3148.1																																																																																					0.455	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000356873.2		NM_002628		T	149686178	-	T	149686177	7	5	96	1	0	1	1	0	0	0	0	0	11785	1377	48	0	239	0	PFN2	3	149686177	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	3771698	149686177	48336253	164	6949											
P2RY1	5028	broad.mit.edu	37	chr3	152554612	152554612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttctagaagaagtgaGgcaaatttgcaatccaagag	17	8	10	6	0	1	4	0	1	1	3	2	4	2	4	1	1	2	3	1	1	7	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:152554612G>T	ENST00000305097.3	+	1	1877	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	347					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GAAGAAGTGAGGCAAATTTGC	0.448																																					p.E347D													.	P2RY1	49		0			c.G1041T												47	50	49					3																	152554612		2203	4300	6503	SO:0001583	missense	5028	exon1			AAGTGAGGCAAAT	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.1041G>T	3.37:g.152554612G>T	ENSP00000304767:p.Glu347Asp		125	0.016	2		161	0.02	3	NM_002563	4	0	0		Missense_Mutation	SNP	ENST00000305097.3	37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683357	0.29872	.	.	ENSG00000169860	ENST00000305097	T	0.24350	1.86	5.2	4.33	0.51752	.	0.257163	0.33670	N	0.004661	T	0.12646	0.0307	N	0.08118	0	0.46678	D	0.999153	B	0.06786	0.001	B	0.04013	0.001	T	0.08638	-1.0712	10	0.12766	T	0.61	.	12.8565	0.57888	0.0783:0.0:0.9217:0.0	.	347	P47900	P2RY1_HUMAN	D	347	ENSP00000304767:E347D	ENSP00000304767:E347D	E	+	3	2	P2RY1	154037302	0.882000	0.30256	1.000000	0.80357	0.994000	0.84299	0.274000	0.18680	1.195000	0.43115	0.563000	0.77884	GAG			0.448	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356943.1		NM_002563		T	152554612	G	T	152554612	3	4	96	1	0	0	0	0	1	0	0	0	11363	991	35	3	1043	3	P2RY1	3	152554612	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2868435	152554612	45467818	165	6950											
TRIM59	286827	broad.mit.edu	37	chr3	160156583	160156583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttgaaggtcatctataGgatgaccatgatgttgacct	11	13	9	8	0	2	4	1	4	1	0	2	5	2	5	2	2	0	1	2	2	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:160156583G>T	ENST00000309784.4	-	3	574	c.389C>A	c.(388-390)cCt>cAt	p.P130H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.P130H|TRIM59_ENST00000543469.1_Missense_Mutation_p.P130H	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	130					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCATCTATAGGATGACCATG	0.383																																					p.P130H													.	TRIM59	42		0			c.C389A												109	106	107					3																	160156583		2203	4300	6503	SO:0001583	missense	286827	exon3			TCTATAGGATGAC	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.389C>A	3.37:g.160156583G>T	ENSP00000311219:p.Pro130His		115	0	0		175	0.02	4	NM_173084	12	0	0	A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417151	0.62511	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.77	4.89	0.63831	Zinc finger, B-box (2);	0.118844	0.64402	D	0.000020	T	0.52435	0.1734	L	0.39898	1.24	0.33446	D	0.582995	D	0.89917	1.0	D	0.77557	0.99	T	0.59295	-0.7481	9	.	.	.	-17.0018	12.1125	0.53848	0.0667:0.1196:0.8137:0.0	.	130	Q8IWR1	TRI59_HUMAN	H	130;130;130;130;158	ENSP00000444313:P130H;ENSP00000311219:P130H;ENSP00000417081:P130H;ENSP00000420520:P130H;ENSP00000418856:P158H	.	P	-	2	0	TRIM59	161639277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.964000	0.56780	2.724000	0.93272	0.561000	0.74099	CCT			0.383	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352963.1		NM_173084		T	160156583	G	T	160156583	3	4	96	1	0	0	0	0	1	0	0	0	16556	1000	35	3	826	3	TRIM59	3	160156583	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7601971	160156583	37865847	166	6951											
PRKCI	5584	broad.mit.edu	37	chr3	170009712	170009713	+	Frame_Shift_Ins	INS	-	-	A																															tacattgctcctgaaattttINSaagaggagaagattatggta																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:170009712_170009713insA	ENST00000295797.4	+	13	1579_1580	c.1274_1275insA	c.(1273-1278)ttaagafs	p.R426fs		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	426	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CCTGAAATTTTAAGAGGAGAAG	0.337																																					p.L425fs													.	PRKCI	82		0			c.1274_1275insA																																									SO:0001589	frameshift_variant	5584	exon13			AAATTTTAAGAGG		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1276dupA	3.37:g.170009714_170009714dupA	ENSP00000295797:p.Arg426fs		388	0	0		547	0.01	4	NM_002740	27	0	0	D3DNQ4|Q8WW06	Frame_Shift_Ins	INS	ENST00000295797.4	37	CCDS3212.2																																																																																					0.337	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316866.3		NM_002740		A	170009713	-	A	170009712	7	5	96	1	0	1	1	0	0	0	0	0	12534	1764	61	0	1324	0	PRKCI	3	170009712	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	9853129	170009712	28012718	167	6952											
ABCC5	10057	broad.mit.edu	37	chr3	183670921	183670921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaccaggtgctgaaggCggtgctgcctacattcagca	10	7	11	13	1	1	1	1	1	0	0	1	1	1	1	3	3	6	3	3	3	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:183670921C>T	ENST00000334444.6	-	18	2860	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	ABCC5_ENST00000265586.6_Missense_Mutation_p.A874T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	874	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	GTGCTGAAGGCGGTGCTGCCT	0.507																																					p.A874T													.	ABCC5	142		0			c.G2620A												107	104	105					3																	183670921		1922	4125	6047	SO:0001583	missense	10057	exon18			TGAAGGCGGTGCT	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.2620G>A	3.37:g.183670921C>T	ENSP00000333926:p.Ala874Thr		153	0	0		232	0.02	5	NM_005688	22	0	0	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497125|4.497125	0.85069|0.85069	.|.	.|.	ENSG00000114770|ENSG00000114770	ENST00000334444;ENST00000265586|ENST00000382495	D;D|.	0.90004|.	-2.6;-2.6|.	5.62|5.62	5.62|5.62	0.85841|0.85841	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56790|0.56790	0.2009|0.2009	N|N	0.25426|0.25426	0.745|0.745	0.80722|0.80722	D|D	1|1	D;P|.	0.54964|.	0.969;0.903|.	P;B|.	0.48270|.	0.572;0.402|.	T|T	0.48139|0.48139	-0.9061|-0.9061	10|6	0.17369|0.21014	T|T	0.5|0.42	-19.0543|-19.0543	19.69|19.69	0.95996|0.95996	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	874;874|.	Q86UX3;O15440|.	.;MRP5_HUMAN|.	T|H	874|808	ENSP00000333926:A874T;ENSP00000265586:A874T|.	ENSP00000265586:A874T|ENSP00000371935:R808H	A|R	-|-	1|2	0|0	ABCC5|ABCC5	185153615|185153615	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.933000|0.933000	0.57130|0.57130	7.380000|7.380000	0.79704|0.79704	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	GCC|CGC			0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346350.1		NM_005688		T	183670921	C	T	183670921	3	4	96	1	0	0	0	0	1	0	0	0	56	768	27	1	1745	1	ABCC5	3	183670921	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	13661209	183670921	14351509	168	6953											
VPS8	23355	broad.mit.edu	37	chr3	184580796	184580796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatctcagaagttcagctgGtctacaatagcagccatttc	12	11	8	10	0	3	2	2	0	2	2	5	2	3	2	1	1	4	3	1	1	4	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:184580796G>T	ENST00000437079.3	+	16	1507	c.1336G>T	c.(1336-1338)Gtc>Ttc	p.V446F	VPS8_ENST00000446204.2_Missense_Mutation_p.V444F|VPS8_ENST00000436792.2_Missense_Mutation_p.V444F|VPS8_ENST00000287546.4_Missense_Mutation_p.V446F	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	446							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGTTCAGCTGGTCTACAATAG	0.433																																					p.V446F													.	VPS8	109		0			c.G1336T												132	136	134					3																	184580796		1972	4163	6135	SO:0001583	missense	23355	exon15			CAGCTGGTCTACA	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1336G>T	3.37:g.184580796G>T	ENSP00000397879:p.Val446Phe		104	0	0		166	0.03	5	NM_001009921	1	0	0	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721973	0.89298	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	6.01	5.14	0.70334	.	0.059850	0.64402	D	0.000002	T	0.42040	0.1185	L	0.58810	1.83	0.80722	D	1	B;D	0.76494	0.01;0.999	B;D	0.69142	0.021;0.962	T	0.16158	-1.0412	10	0.33141	T	0.24	-15.7186	16.7627	0.85516	0.0:0.0:0.8699:0.1301	.	444;444	Q8N3P4-2;Q8N3P4-3	.;.	F	446;446;444;444	ENSP00000287546:V446F;ENSP00000397879:V446F;ENSP00000404704:V444F;ENSP00000405483:V444F	ENSP00000287546:V446F	V	+	1	0	VPS8	186063490	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.726000	0.98782	1.539000	0.49286	0.655000	0.94253	GTC			0.433	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_015303		T	184580796	G	T	184580796	3	4	96	1	0	0	0	0	1	0	0	0	17242	1261	44	3	1390	3	VPS8	3	184580796	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	909875	184580796	13441634	169	6954											
HRG	3273	broad.mit.edu	37	chr3	186394998	186394998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacccccacctcctccaGatgaaagagatcactcacat	13	7	6	15	0	2	3	2	1	0	2	4	5	4	4	5	1	0	0	5	1	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr3:186394998G>T	ENST00000232003.4	+	7	984	c.904G>T	c.(904-906)Gat>Tat	p.D302Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	302	Pro-rich.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACCTCCTCCAGATGAAAGAGA	0.522																																					p.D302Y													.	HRG	81		0			c.G904T												208	169	182					3																	186394998		2203	4300	6503	SO:0001583	missense	3273	exon7			CCTCCAGATGAAA		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.904G>T	3.37:g.186394998G>T	ENSP00000232003:p.Asp302Tyr		287	0.0034843206	1		547	0.01	4	NM_000412	1	0	0	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173201	0.38413	.	.	ENSG00000113905	ENST00000232003	T	0.19669	2.13	3.66	3.66	0.41972	.	0.371703	0.23049	N	0.052503	T	0.12646	0.0307	N	0.22421	0.69	0.09310	N	1	D	0.56968	0.978	P	0.44860	0.462	T	0.09729	-1.0661	10	0.02654	T	1	-1.7283	11.0536	0.47905	0.0:0.0:1.0:0.0	.	302	P04196	HRG_HUMAN	Y	302	ENSP00000232003:D302Y	ENSP00000232003:D302Y	D	+	1	0	HRG	187877692	0.002000	0.14202	0.026000	0.17262	0.003000	0.03518	1.168000	0.31859	2.079000	0.62486	0.555000	0.69702	GAT			0.522	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344655.1		NM_000412		T	186394998	G	T	186394998	3	4	96	1	0	0	0	0	1	0	0	0	7369	942	33	3	930	3	HRG	3	186394998	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1814202	186394998	11627432	170	6955											
PDE6B	5158	broad.mit.edu	37	chr4	619638	619638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcatcaacatggagcgcGtggtcttcaaggtcctgcgg	9	8	14	10	3	3	1	2	0	1	1	4	2	4	2	1	4	4	1	1	4	2	1	rs376238566		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:619638G>A	ENST00000496514.1	+	1	244	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	PDE6B_ENST00000255622.6_Missense_Mutation_p.V75M			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	75	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CATGGAGCGCGTGGTCTTCAA	0.677													G|||	1	0.000199681	8e-04	0	5008	,	,		15886	0		0	False		,,,				2504	0				p.V75M	GBM(71;463 1194 9848 25922 46834)												.	PDE6B	80		0			c.G223A							G	MET/VAL,MET/VAL	0,4400		0,0,2200	27	24	25		223,223	5	0.9	4		25	1,8599		0,1,4299	no	missense,missense	PDE6B	NM_000283.3,NM_001145291.1	21,21	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	75/855,75/854	619638	1,12999	2200	4300	6500	SO:0001583	missense	5158	exon1			GAGCGCGTGGTCT	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.223G>A	4.37:g.619638G>A	ENSP00000420295:p.Val75Met		122	0	0		129	0.02	3	NM_001145291	1	0	0	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785399	0.31593	0.0	1.16E-4	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.68765	-0.35;-0.35	4.98	4.98	0.66077	GAF (2);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.53561	1.675	0.26348	N	0.977247	P;P	0.37398	0.593;0.538	B;B	0.32533	0.147;0.091	T	0.61987	-0.6949	10	0.51188	T	0.08	.	15.7244	0.77743	0.0:0.0:1.0:0.0	.	75;75	P35913;P35913-2	PDE6B_HUMAN;.	M	75	ENSP00000255622:V75M;ENSP00000420295:V75M	ENSP00000255622:V75M	V	+	1	0	PDE6B	609638	0.112000	0.22096	0.860000	0.33809	0.761000	0.43186	1.619000	0.36965	2.326000	0.78906	0.561000	0.74099	GTG			0.677	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000358109.1		NM_000283		A	619638	G	A	619638	3	1	96	1	0	0	0	0	1	0	0	0	11663	1145	40	1	225	1	PDE6B	4	619638	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		619638	190534638	171	6956											
PDE6B	5158	broad.mit.edu;bcgsc.ca	37	chr4	656329	656329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagctactacacggaccTggaggccttcgccatggtga	10	7	13	11	2	0	2	0	1	0	1	1	5	0	4	3	4	3	1	3	4	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:656329T>C	ENST00000496514.1	+	14	1775	c.1754T>C	c.(1753-1755)cTg>cCg	p.L585P	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.L585P|PDE6B_ENST00000429163.2_Missense_Mutation_p.L306P			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	585					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TACACGGACCTGGAGGCCTTC	0.627																																					p.L585P	GBM(71;463 1194 9848 25922 46834)												.	PDE6B	80		0			c.T1754C												80	72	74					4																	656329		2203	4300	6503	SO:0001583	missense	5158	exon14			CGGACCTGGAGGC	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1754T>C	4.37:g.656329T>C	ENSP00000420295:p.Leu585Pro		110	0	0		116	0.07	8	NM_001145291	10	0	0	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164329	0.78339	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	D;D;D	0.85702	-2.02;-2.02;-2.02	4.55	4.55	0.56014	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.079290	0.51477	D	0.000086	D	0.93051	0.7788	M	0.90870	3.155	0.80722	D	1	D;D	0.71674	0.987;0.998	D;D	0.75020	0.974;0.985	D	0.94076	0.7340	10	0.87932	D	0	.	11.8386	0.52340	0.0:0.0:0.0:1.0	.	585;585	P35913;P35913-2	PDE6B_HUMAN;.	P	585;585;306	ENSP00000255622:L585P;ENSP00000420295:L585P;ENSP00000406334:L306P	ENSP00000255622:L585P	L	+	2	0	PDE6B	646329	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	7.480000	0.81109	1.674000	0.50907	0.520000	0.50463	CTG			0.627	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000358109.1		NM_000283		C	656329	T	C	656329	3	2	96	1	0	0	0	0	1	0	0	0	11663	1580	55	4	1808	4	PDE6B	4	656329	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	36691	656329	190497947	172	6957											
FGFR3	2261	mdanderson.org	37	chr4	1804666	1804666	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcagtgagagtgtggaggCcgacgtgcgcctccgcctgg	6	7	17	11	4	1	1	1	1	0	1	2	5	2	2	4	3	1	0	4	3	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:1804666C>A	ENST00000260795.2	+	7	1032				FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000340107.4_Missense_Mutation_p.A319D|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3						alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|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)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	AGTGTGGAGGCCGACGTGCGC	0.677		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																												p.A319D				Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	.	.			0			c.C956A												21	24	23					4																	1804666		1561	3576	5137	SO:0001627	intron_variant	2261	exon8	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	TGGAGGCCGACGT	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.931-753C>A	4.37:g.1804666C>A			60	0	0		56	0.05	3	NM_001163213	15	0	0	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	15.25	2.777792	0.49786	.	.	ENSG00000068078	ENST00000340107	T	0.67171	-0.25	4.08	4.08	0.47627	.	.	.	.	.	T	0.51770	0.1694	N	0.24115	0.695	0.80722	D	1	B	0.26120	0.142	B	0.32022	0.139	T	0.46816	-0.9164	9	0.25106	T	0.35	.	10.1783	0.42952	0.0:0.9079:0.0:0.0921	.	319	P22607-2	.	D	319	ENSP00000339824:A319D	ENSP00000339824:A319D	A	+	2	0	FGFR3	1774464	0.942000	0.31987	0.966000	0.40874	0.908000	0.53690	3.170000	0.50816	2.115000	0.64714	0.655000	0.94253	GCC			0.677	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000241632.2		NM_000142		A	1804666	C	A	1804666	1	1	96	0	1	0	0	0	0	0	0	0	5880	739	26	2		2	FGFR3	4	1804666	Intron	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1148337	1804666	189349610	173	6958											
ADD1	118	broad.mit.edu	37	chr4	2896372	2896372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaatctgggagtgaatcagGccggcttcaccttacactct	9	11	9	12	1	4	1	2	1	2	0	4	2	4	2	2	3	1	1	2	3	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:2896372G>T	ENST00000398129.1	+	5	675	c.655G>T	c.(655-657)Gcc>Tcc	p.A219S	ADD1_ENST00000398123.2_Missense_Mutation_p.A219S|ADD1_ENST00000503455.2_Missense_Mutation_p.A219S|ADD1_ENST00000264758.7_Missense_Mutation_p.A219S|ADD1_ENST00000446856.1_Missense_Mutation_p.A219S|ADD1_ENST00000513328.2_Missense_Mutation_p.A219S|ADD1_ENST00000398125.1_Missense_Mutation_p.A219S|ADD1_ENST00000355842.3_Missense_Mutation_p.A219S			P35611	ADDA_HUMAN	adducin 1 (alpha)	219					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGAATCAGGCCGGCTTCAC	0.473																																					p.A219S	Esophageal Squamous(71;505 1201 20414 34538 37449)												ADD1,NS,carcinoma,-2,1	ADD1	56	1	0			c.G655T												68	61	63					4																	2896372		2203	4299	6502	SO:0001583	missense	118	exon6			AATCAGGCCGGCT	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.655G>T	4.37:g.2896372G>T	ENSP00000381197:p.Ala219Ser		335	0	0		286	0.01	4	NM_014190	31	0	0	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031026	0.54790	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.7	5.7	0.88788	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.79614	2.46	0.80722	D	1	B;B;P;B;B;P;B	0.47034	0.007;0.012;0.889;0.016;0.045;0.747;0.032	B;B;P;B;B;P;B	0.60949	0.042;0.042;0.881;0.042;0.025;0.477;0.1	T	0.16041	-1.0416	10	0.27785	T	0.31	-22.8796	19.8301	0.96631	0.0:0.0:1.0:0.0	.	219;219;219;219;219;219;219	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	S	219;219;219;219;219;114;219;219;219;219	ENSP00000264758:A219S;ENSP00000399828:A219S;ENSP00000381193:A219S;ENSP00000421907:A219S;ENSP00000426700:A114S;ENSP00000423024:A219S;ENSP00000348100:A219S;ENSP00000381191:A219S;ENSP00000381197:A219S	ENSP00000264758:A219S	A	+	1	0	ADD1	2866170	1.000000	0.71417	0.361000	0.25849	0.607000	0.37147	7.921000	0.87530	2.692000	0.91855	0.591000	0.81541	GCC			0.473	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000242840.1		NM_014189		T	2896372	G	T	2896372	3	4	96	1	0	0	0	0	1	0	0	0	304	1203	42	2	673	2	ADD1	4	2896372	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1091706	2896372	188257904	174	6959											
SEL1L3	23231	broad.mit.edu	37	chr4	25769163	25769163	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaaaggaaggagcatcGatttgaaaaacagagaaatt	20	7	9	5	1	0	2	0	1	0	1	1	6	0	4	1	2	3	1	1	2	6	3	rs182680181	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:25769163G>T	ENST00000399878.3	-	19	2951	c.2829C>A	c.(2827-2829)atC>atA	p.I943I	SEL1L3_ENST00000502949.1_Silent_p.I790I|RP11-302F12.10_ENST00000510905.1_RNA|SEL1L3_ENST00000264868.5_Silent_p.I908I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	943						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGGAGCATCGATTTGAAAAA	0.373																																					p.I943I													SEL1L3,NS,carcinoma,0,4	SEL1L3	62	4	0			c.C2829A												82	74	76					4																	25769163		1829	4087	5916	SO:0001819	synonymous_variant	23231	exon19			AGCATCGATTTGA	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.2829C>A	4.37:g.25769163G>T			403	0.0124069479	5		331	0.02	7	NM_015187	19	0	0	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	CCDS47037.1																																																																																					0.373	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360261.1		NM_015187		T	25769163	G	T	25769163	2	4	96	1	0	0	0	0	0	0	0	1	14035	1048	37	1		1	SEL1L3	4	25769163	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	22872791	25769163	165385113	175	6960											
N4BP2	55728	broad.mit.edu	37	chr4	40123092	40123092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaataaagatattatttggGccacaagccttttgttggat	12	14	9	6	0	0	1	0	0	0	1	0	2	0	2	2	2	1	2	2	2	6	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:40123092G>T	ENST00000261435.6	+	9	3777	c.3361G>T	c.(3361-3363)Gcc>Tcc	p.A1121S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1121					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						TATTATTTGGGCCACAAGCCT	0.348																																					p.A1121S													.	N4BP2	166		0			c.G3361T												71	77	75					4																	40123092		2203	4299	6502	SO:0001583	missense	55728	exon9			ATTTGGGCCACAA	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.3361G>T	4.37:g.40123092G>T	ENSP00000261435:p.Ala1121Ser		278	0	0		257	0.01	3	NM_018177	2	0	0	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.32|16.32	3.091161|3.091161	0.55968|0.55968	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.27256|.	1.68|.	5.86|5.86	3.21|3.21	0.36854|0.36854	.|.	0.119371|.	0.56097|.	D|.	0.000029|.	T|T	0.55386|0.55386	0.1917|0.1917	L|L	0.59436|0.59436	1.845|1.845	0.32797|0.32797	N|N	0.50045|0.50045	P;P|.	0.51351|.	0.944;0.908|.	P;P|.	0.53146|.	0.719;0.527|.	T|T	0.62918|0.62918	-0.6752|-0.6752	10|5	0.62326|.	D|.	0.03|.	-0.8601|-0.8601	9.6309|9.6309	0.39778|0.39778	0.2696:0.0:0.7304:0.0|0.2696:0.0:0.7304:0.0	.|.	1121;1121|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	S|V	1121;1041|767	ENSP00000261435:A1121S|.	ENSP00000261435:A1121S|.	A|G	+|+	1|2	0|0	N4BP2|N4BP2	39799487|39799487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.978000|2.978000	0.49305|0.49305	0.825000|0.825000	0.34637|0.34637	0.563000|0.563000	0.77884|0.77884	GCC|GGC			0.348	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250458.2		NM_018177		T	40123092	G	T	40123092	3	4	96	1	0	0	0	0	1	0	0	0	10126	1203	42	2	3387	2	N4BP2	4	40123092	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	14353929	40123092	151031184	176	6961											
GABRA4	2557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	46994860	46994860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacccccaaatccaggacGcagcctgttgtcataaccat	12	8	6	15	1	1	0	1	0	0	0	2	1	2	1	5	1	3	2	5	1	3	3	rs201606797		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:46994860G>A	ENST00000264318.3	-	2	1172	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	64					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					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)	AATCCAGGACGCAGCCTGTTG	0.483													G|||	1	0.000199681	0	0	5008	,	,		15504	0		0.001	False		,,,				2504	0				p.R64C	Ovarian(6;283 369 8234 12290 33402)												.	.			0			c.C190T												143	128	133					4																	46994860		2203	4300	6503	SO:0001583	missense	2557	exon2			CAGGACGCAGCCT		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.190C>T	4.37:g.46994860G>A	ENSP00000264318:p.Arg64Cys		184	0	0		186	0.39	72	NM_000809	0		0	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.95	2.390220	0.42410	.	.	ENSG00000109158	ENST00000264318	D	0.83506	-1.73	5.46	4.62	0.57501	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	H	0.95402	3.665	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.93551	0.6886	10	0.87932	D	0	.	10.1937	0.43041	0.0923:0.0:0.9077:0.0	.	64	P48169	GBRA4_HUMAN	C	64	ENSP00000264318:R64C	ENSP00000264318:R64C	R	-	1	0	GABRA4	46689617	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	5.426000	0.66476	1.309000	0.44985	-0.384000	0.06662	CGT	0		0.483	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216893.1				A	46994860	G	A	46994860	3	1	96	1	0	0	0	0	1	0	0	0	6176	1087	38	1	1506	1	GABRA4	4	46994860	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6871768	46994860	144159416	177	6962											
EPHA5	2044	broad.mit.edu	37	chr4	66217148	66217148	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatcatcttccagtacccGggaaagtccaaagtcagaca	13	7	10	11	1	3	1	2	0	1	1	5	3	5	3	3	2	1	1	3	2	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:66217148G>T	ENST00000273854.3	-	14	3067	c.2467C>A	c.(2467-2469)Cgg>Agg	p.R823R	EPHA5_ENST00000511294.1_Silent_p.R824R|EPHA5_ENST00000354839.4_Silent_p.R801R|EPHA5_ENST00000432638.2_Silent_p.R660R	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	823	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.R823W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCAGTACCCGGGAAAGTCCA	0.433										TSP Lung(17;0.13)																											p.R823R													EPHA5,NS,other,0,1	EPHA5	315	1	1	Substitution - Missense(1)	pancreas(1)	c.C2467A												125	112	116					4																	66217148		2203	4300	6503	SO:0001819	synonymous_variant	2044	exon14			GTACCCGGGAAAG	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2467C>A	4.37:g.66217148G>T			170	0	0		172	0.02	4	NM_004439	0		0	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																					0.433	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251388.2		NM_004439		T	66217148	G	T	66217148	2	4	96	1	0	0	0	0	0	0	0	1	5177	1115	39	1		1	EPHA5	4	66217148	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	19222288	66217148	124937128	178	6963											
RUFY3	22902	broad.mit.edu	37	chr4	71659525	71659525	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaggctgagcgaagccGccaatctgctgagttggaca	9	6	14	12	3	1	2	0	2	1	0	1	4	1	3	3	2	3	3	3	2	2	1	rs376846064		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:71659525G>A	ENST00000226328.4	+	0	4233				RUFY3_ENST00000381006.3_Missense_Mutation_p.R454H|RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						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)			GAGCGAAGCCGCCAATCTGCT	0.507																																					p.R454H													.	RUFY3	61		0			c.G1361A							G	HIS/ARG	0,4406		0,0,2203	51	49	50		1361	5	1	4		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	RUFY3	NM_001037442.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	454/621	71659525	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	22902	exon13			GAAGCCGCCAATC	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		4.37:g.71659525G>A			304	0.0032894737	1		314	0.02	7	NM_001037442	24	0	0	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107199	0.77096	0.0	1.16E-4	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.10288	2.91;2.89	5.88	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.54499	0.754	T	0.01480	-1.1344	9	0.66056	D	0.02	0.6659	15.2103	0.73219	0.0676:0.0:0.9324:0.0	.	454	Q7L099-3	.	H	454;401	ENSP00000370394:R454H;ENSP00000425400:R401H	ENSP00000370394:R454H	R	+	2	0	RUFY3	71878389	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.508000	0.81686	1.488000	0.48433	0.655000	0.94253	CGC			0.507	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252161.2		NM_014961		A	71659525	G	A	71659525	1	1	96	0	1	0	0	0	0	0	0	0	13763	1087	38	1		1	RUFY3	4	71659525	IGR	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5442377	71659525	119494751	179	6964											
SHROOM3	57619	broad.mit.edu	37	chr4	77677789	77677789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcttggtgggcagccaGcacccatccagactcaaagc	9	7	11	14	0	2	1	1	0	1	1	4	1	3	1	3	3	3	2	3	3	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:77677789G>T	ENST00000296043.6	+	8	5850	c.4897G>T	c.(4897-4899)Gca>Tca	p.A1633S	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1633					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)			TGGGCAGCCAGCACCCATCCA	0.517																																					p.A1633S													.	SHROOM3	134		0			c.G4897T												84	88	87					4																	77677789		2203	4300	6503	SO:0001583	missense	57619	exon8			CAGCCAGCACCCA	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.4897G>T	4.37:g.77677789G>T	ENSP00000296043:p.Ala1633Ser		235	0	0		247	0.01	3	NM_020859	14	0	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	8.468	0.856875	0.17106	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	T	0.19394	2.15	5.27	-4.94	0.03057	.	1.365850	0.04600	N	0.398261	T	0.05640	0.0148	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24905	-1.0147	10	0.19590	T	0.45	-0.0045	0.444	0.00490	0.3388:0.1303:0.2633:0.2677	.	1633	Q8TF72	SHRM3_HUMAN	S	1633;110	ENSP00000296043:A1633S	ENSP00000264907:A110S	A	+	1	0	SHROOM3	77896813	0.000000	0.05858	0.023000	0.16930	0.101000	0.19017	-0.472000	0.06623	-0.555000	0.06142	-0.283000	0.09986	GCA			0.517	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252408.2		NM_020859		T	77677789	G	T	77677789	3	4	96	1	0	0	0	0	1	0	0	0	14318	971	34	2	4927	2	SHROOM3	4	77677789	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6018264	77677789	113476487	180	6965											
AGPAT9	84803	broad.mit.edu	37	chr4	84518594	84518594	+	Frame_Shift_Del	DEL	A	A	-																															cccttgcaggaacttgcatcAacaatacttcagtcatgatg																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:84518594delA	ENST00000395226.2	+	10	1140	c.922delA	c.(922-924)aacfs	p.N309fs	AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.N309fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	309					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)				AACTTGCATCAACAATACTTC	0.313																																					p.N308fs													AGPAT9,NS,carcinoma,-1,1	AGPAT9	41	1	0			c.922delA												55	57	56					4																	84518594		2203	4300	6503	SO:0001589	frameshift_variant	84803	exon10			TGCATCAACAATA	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.922delA	4.37:g.84518594delA	ENSP00000378651:p.Asn309fs		787	0	0		767	0.01	10	NM_001256421	7	0	0	Q68CJ4|Q6GPI6|Q96NA3	Frame_Shift_Del	DEL	ENST00000395226.2	37	CCDS3606.1																																																																																					0.313	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252821.3		NM_032717		-	84518594	A	-	84518594	7	5	96	1	0	1	0	1	0	0	0	0	392	130	5	0	956	0	AGPAT9	4	84518594	Frame_Shift_Del	DEL	A	TCGA-VF-A8A8-01A-11D-A435-10	6840805	84518594	106635682	181	6966											
SNCA	6622	broad.mit.edu	37	chr4	90743449	90743449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgctgcaatgctccctGctccctccactgtcttctgg	3	13	9	16	0	2	0	0	0	2	0	5	0	5	0	3	2	4	5	3	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:90743449G>A	ENST00000394986.1	-	4	675	c.254C>T	c.(253-255)gCa>gTa	p.A85V	SNCA_ENST00000502987.1_Missense_Mutation_p.A85V|SNCA_ENST00000508895.1_Missense_Mutation_p.A85V|SNCA_ENST00000506244.1_Missense_Mutation_p.A85V|SNCA_ENST00000336904.3_Missense_Mutation_p.A85V|SNCA_ENST00000394991.3_Missense_Mutation_p.A85V|SNCA_ENST00000420646.2_Missense_Mutation_p.A85V|SNCA_ENST00000394989.2_Missense_Mutation_p.A71V|SNCA_ENST00000345009.4_Missense_Mutation_p.A85V|SNCA_ENST00000505199.1_Missense_Mutation_p.A71V			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	85					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		AATGCTCCCTGCTCCCTCCAC	0.498																																					p.A85V													.	SNCA	17		0			c.C254T												208	154	172					4																	90743449		2203	4300	6503	SO:0001583	missense	0	exon4			CTCCCTGCTCCCT	L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"Parkinson disease"	11138	protein-coding gene	gene with protein product		163890	"Parkinson disease (autosomal dominant, Lewy body) 4"	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.254C>T	4.37:g.90743449G>A	ENSP00000378437:p.Ala85Val		186	0	0		146	0.03	4	NM_000345	40	0	0	A8K2A4|Q13701|Q4JHI3|Q6IAU6	Missense_Mutation	SNP	ENST00000394986.1	37	CCDS3634.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340886	0.81911	.	.	ENSG00000145335	ENST00000394989;ENST00000420646;ENST00000345009;ENST00000394986;ENST00000394991;ENST00000336904;ENST00000508895;ENST00000506244;ENST00000505199;ENST00000502987	D;D;D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.21	4.21	0.49690	.	0.063137	0.64402	D	0.000008	D	0.85496	0.5710	L	0.29908	0.895	0.51767	D	0.999937	D;D;D	0.67145	0.995;0.996;0.996	P;D;D	0.70935	0.837;0.965;0.971	D	0.84226	0.0464	10	0.33141	T	0.24	-0.0774	17.8861	0.88855	0.0:0.0:1.0:0.0	.	71;85;85	P37840-3;P37840;P37840-2	.;SYUA_HUMAN;.	V	71;85;85;85;85;85;85;85;71;85	ENSP00000378440:A71V;ENSP00000396241:A85V;ENSP00000343683:A85V;ENSP00000378437:A85V;ENSP00000378442:A85V;ENSP00000338345:A85V;ENSP00000426955:A85V;ENSP00000422238:A85V;ENSP00000421485:A71V;ENSP00000426034:A85V	ENSP00000338345:A85V	A	-	2	0	SNCA	90962472	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.240000	0.72363	2.622000	0.88805	0.563000	0.77884	GCA			0.498	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253547.2				A	90743449	G	A	90743449	3	1	96	1	0	0	0	0	1	0	0	0	14863	1319	46	2	180	2	SNCA	4	90743449	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6224855	90743449	100410827	182	6967											
CYP2U1	113612	broad.mit.edu	37	chr4	108868567	108868567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgaaagagtcattggcGccaaccgagctccttccctc	11	9	8	13	2	1	2	1	1	0	1	4	3	3	2	4	1	2	1	4	1	3	3	rs138968113	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:108868567G>T	ENST00000332884.6	+	3	1437	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.A179S	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	388					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)		AGTCATTGGCGCCAACCGAGC	0.493																																					p.A388S													.	CYP2U1	20		0			c.G1162T												97	90	93					4																	108868567		2203	4300	6503	SO:0001583	missense	113612	exon3			ATTGGCGCCAACC	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.1162G>T	4.37:g.108868567G>T	ENSP00000333212:p.Ala388Ser		240	0.0041666667	1		247	0.01	3	NM_183075	11	0	0	B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096911	0.08681	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.67698	-0.28;-0.28	6.08	-1.05	0.10036	.	1.022090	0.07739	N	0.946562	T	0.35451	0.0932	N	0.02213	-0.635	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.14172	-1.0482	10	0.21540	T	0.41	.	5.0251	0.14381	0.1692:0.5066:0.2062:0.1181	.	388	Q7Z449	CP2U1_HUMAN	S	388;345;179	ENSP00000333212:A388S;ENSP00000423667:A179S	ENSP00000333212:A388S	A	+	1	0	CYP2U1	109088016	0.000000	0.05858	0.000000	0.03702	0.790000	0.44656	0.172000	0.16704	-0.619000	0.05648	-1.297000	0.01338	GCC			0.493	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363691.2		NM_183075		T	108868567	G	T	108868567	3	4	96	1	0	0	0	0	1	0	0	0	4177	1087	38	1	1172	1	CYP2U1	4	108868567	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	18125118	108868567	82285709	183	6968											
KIAA1109	84162	broad.mit.edu	37	chr4	123249484	123249484	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagatgaagaccatgagaggGaaaggttttatatttacagg	16	10	12	3	0	0	4	0	2	0	3	0	6	0	5	1	3	1	1	1	3	6	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:123249484G>T	ENST00000264501.4	+	66	11594	c.11221G>T	c.(11221-11223)Gaa>Taa	p.E3741*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.E3741*			Q2LD37	K1109_HUMAN	KIAA1109	3741					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						CCATGAGAGGGAAAGGTTTTA	0.373																																					p.E3741X													.	KIAA1109	424		0			c.G11221T												82	77	78					4																	123249484		1834	4080	5914	SO:0001587	stop_gained	84162	exon64			GAGAGGGAAAGGT	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.11221G>T	4.37:g.123249484G>T	ENSP00000264501:p.Glu3741*		118	0.0084745763	1		112	0.04	4	NM_015312	0		0	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524029	0.96431	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	.	.	.	5.57	5.57	0.84162	.	0.140509	0.46145	D	0.000316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	19.5519	0.95324	0.0:0.0:1.0:0.0	.	.	.	.	X	3741;3741;445	.	ENSP00000264501:E3741X	E	+	1	0	KIAA1109	123468934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.196000	0.77805	2.623000	0.88846	0.467000	0.42956	GAA			0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316415.1		NM_020797		T	123249484	G	T	123249484	4	4	96	1	0	0	0	0	0	1	0	0	8223	1175	41	3	11475	3	KIAA1109	4	123249484	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	14380917	123249484	67904792	184	6969											
ADAD1	132612	broad.mit.edu	37	chr4	123304995	123304995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgccttttgtgctgtggtgGatggtattcagtacaagact	7	16	12	6	0	1	1	1	0	0	1	1	2	1	2	1	3	3	3	1	3	3	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:123304995G>T	ENST00000296513.2	+	5	588	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.D117Y|ADAD1_ENST00000388724.2_Missense_Mutation_p.D135Y	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	135	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTGTGGTGGATGGTATTCA	0.358																																					p.D135Y													.	ADAD1	94		0			c.G403T												166	162	163					4																	123304995		2203	4300	6503	SO:0001583	missense	132612	exon5			GTGGTGGATGGTA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.403G>T	4.37:g.123304995G>T	ENSP00000296513:p.Asp135Tyr		263	0.0228136882	6		288	0.01	2	NM_139243	0		0	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622328	0.87460	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.84	5.84	0.93424	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90096	0.6906	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91028	0.4862	10	0.87932	D	0	-31.5919	18.912	0.92489	0.0:0.0:1.0:0.0	.	135;135	Q96M93-2;Q96M93	.;ADAD1_HUMAN	Y	135;135;135;135;117	ENSP00000390510:D135Y;ENSP00000296513:D135Y;ENSP00000397254:D135Y;ENSP00000373376:D135Y;ENSP00000373377:D117Y	ENSP00000296513:D135Y	D	+	1	0	ADAD1	123524445	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.495000	0.66912	2.768000	0.95171	0.579000	0.79373	GAT			0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316452.1		NM_139243		T	123304995	G	T	123304995	3	4	96	1	0	0	0	0	1	0	0	0	231	1174	41	3	413	3	ADAD1	4	123304995	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	55511	123304995	67849281	185	6970											
SLC25A31	83447	broad.mit.edu	37	chr4	128665844	128665844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtttcttcagtttttggCgtggcaatttggcaaatgtt	7	18	11	5	1	2	0	1	0	1	0	2	0	2	0	0	4	0	5	0	4	3	7	rs369621147		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:128665844C>T	ENST00000281154.4	+	2	418	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	84					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAGTTTTTGGCGTGGCAATTT	0.318																																					p.R84C													.	SLC25A31	42		0			c.C250T							C	CYS/ARG	0,4404		0,0,2202	131	134	133		250	4.2	1	4		133	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC25A31	NM_031291.2	180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	84/316	128665844	1,13001	2202	4299	6501	SO:0001583	missense	83447	exon2			TTTTGGCGTGGCA	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"Solute carriers"	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.250C>T	4.37:g.128665844C>T	ENSP00000281154:p.Arg84Cys		198	0.0151515152	3		183	0.02	4	NM_031291	0		0		Missense_Mutation	SNP	ENST00000281154.4	37	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258935	0.59321	0.0	1.16E-4	ENSG00000151475	ENST00000281154	D	0.82344	-1.6	6.02	4.19	0.49359	Mitochondrial carrier domain (2);	0.000000	0.56097	D	0.000032	D	0.94079	0.8102	H	0.98883	4.36	0.58432	D	0.99999	D	0.76494	0.999	D	0.65010	0.931	D	0.95809	0.8840	10	0.87932	D	0	-2.78	13.0783	0.59099	0.4035:0.5964:0.0:0.0	.	84	Q9H0C2	ADT4_HUMAN	C	84	ENSP00000281154:R84C	ENSP00000281154:R84C	R	+	1	0	SLC25A31	128885294	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	1.930000	0.40124	1.535000	0.49220	-0.188000	0.12872	CGT			0.318	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257094.2		NM_031291		T	128665844	C	T	128665844	3	4	96	1	0	0	0	0	1	0	0	0	14518	768	27	1	256	1	SLC25A31	4	128665844	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	5360849	128665844	62488432	186	6971											
UCP1	7350	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	141483480	141483480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggaggacatagctgttgCgcaaaatccagcgataagag	13	6	14	8	3	0	1	0	0	0	1	1	4	1	3	1	3	3	3	1	3	4	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:141483480C>T	ENST00000262999.3	-	5	751	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	226					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					ATAGCTGTTGCGCAAAATCCA	0.458																																					p.A226T													.	UCP1	33		0			c.G676A												105	97	100					4																	141483480		2203	4300	6503	SO:0001583	missense	7350	exon5			CTGTTGCGCAAAA	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"Solute carriers"	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.676G>A	4.37:g.141483480C>T	ENSP00000262999:p.Ala226Thr		122	0.0081967213	1		130	0.22	28	NM_021833	3	0.33	1	Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	C	3.469	-0.108249	0.06924	.	.	ENSG00000109424	ENST00000262999	T	0.80909	-1.43	5.83	0.593	0.17478	Mitochondrial carrier domain (2);	0.101076	0.64402	N	0.000003	T	0.56630	0.1998	N	0.11698	0.16	0.30256	N	0.793597	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.46871	-0.9160	10	0.06757	T	0.87	.	8.6866	0.34240	0.0:0.3405:0.0:0.6595	.	225;226	Q4KMT7;P25874	.;UCP1_HUMAN	T	226	ENSP00000262999:A226T	ENSP00000262999:A226T	A	-	1	0	UCP1	141702930	1.000000	0.71417	0.619000	0.29118	0.257000	0.26127	1.798000	0.38814	-0.099000	0.12263	-0.312000	0.09012	GCA			0.458	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257273.1				T	141483480	C	T	141483480	3	4	96	1	0	0	0	0	1	0	0	0	16954	768	27	1	253	1	UCP1	4	141483480	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	12817636	141483480	49670796	187	6972											
PPID	5481	broad.mit.edu	37	chr4	159630976	159630976	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaattctgcctggataGctgtaaaataaatatgcaat	15	12	7	7	0	2	0	1	0	1	0	2	1	2	1	1	1	4	4	1	1	8	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:159630976G>T	ENST00000307720.3	-	10	1132	c.1025C>A	c.(1024-1026)gCt>gAt	p.A342D		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	342	Interaction with HSP90AB1. {ECO:0000250}.				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)		TGCCTGGATAGCTGTAAAATA	0.303																																					p.A342D													.	PPID	22		0			c.C1025A												115	105	108					4																	159630976		2203	4296	6499	SO:0001630	splice_region_variant	5481	exon10			TGGATAGCTGTAA		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.1025-1C>A	4.37:g.159630976G>T			79	0	0		78	0.04	3	NM_005038	230	0	0	B2R9V2	Splice_Site	SNP	ENST00000307720.3	37	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422674	0.83559	.	.	ENSG00000171497	ENST00000307720	T	0.73469	-0.75	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.000000	0.40385	N	0.001102	D	0.84206	0.5421	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.63192	0.912	T	0.80469	-0.1369	10	0.35671	T	0.21	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	342	Q08752	PPID_HUMAN	D	342	ENSP00000303754:A342D	ENSP00000303754:A342D	A	-	2	0	PPID	159850426	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.469000	0.80959	2.941000	0.99782	0.655000	0.94253	GCT			0.303	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366436.1		NM_005038	Missense_Mutation	T	159630976	G	T	159630976	5	4	96	1	0	0	0	0	0	0	1	0	12341	985	34	2	91	2	PPID	4	159630976	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	18147496	159630976	31523300	188	6973											
RAPGEF2	9693	broad.mit.edu	37	chr4	160273959	160273959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgccagtctcactgcacGatgagaggcgccagaggcat	10	6	13	12	2	1	2	1	1	1	2	2	4	1	2	2	2	2	2	2	2	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:160273959G>T	ENST00000264431.4	+	21	3924	c.3505G>T	c.(3505-3507)Gat>Tat	p.D1169Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1169					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|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)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTCACTGCACGATGAGAGGCG	0.463																																					p.D1169Y													.	RAPGEF2	171		0			c.G3505T												123	117	119					4																	160273959		1958	4147	6105	SO:0001583	missense	9693	exon21			CTGCACGATGAGA	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3505G>T	4.37:g.160273959G>T	ENSP00000264431:p.Asp1169Tyr		212	0.0094339623	2		205	0.03	6	NM_014247	10	0	0	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.203398|4.203398	0.79127|0.79127	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000505026	T|.	0.52295|.	0.67|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.195954|.	0.52532|.	D|.	0.000078|.	T|T	0.74680|0.74680	0.3748|0.3748	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68621|.	0.959|.	T|T	0.71111|0.71111	-0.4687|-0.4687	10|5	0.59425|.	D|.	0.04|.	.|.	19.9832|19.9832	0.97338|0.97338	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1169|.	Q9Y4G8|.	RPGF2_HUMAN|.	Y|L	1169|103	ENSP00000264431:D1169Y|.	ENSP00000264431:D1169Y|.	D|R	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160493409|160493409	1.000000|1.000000	0.71417|0.71417	0.298000|0.298000	0.25002|0.25002	0.822000|0.822000	0.46500|0.46500	6.778000|6.778000	0.75043|0.75043	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAT|CGA			0.463	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364980.2		NM_014247		T	160273959	G	T	160273959	3	4	96	1	0	0	0	0	1	0	0	0	13067	1058	37	1	3587	1	RAPGEF2	4	160273959	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	642983	160273959	30880317	189	6974											
DDX60	55601	broad.mit.edu	37	chr4	169208307	169208307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatacggtattccagaGatattcataatctttcataa	13	16	5	7	1	3	2	2	1	1	1	4	3	4	2	1	1	1	1	1	1	5	9			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr4:169208307G>T	ENST00000393743.3	-	10	1522	c.1231C>A	c.(1231-1233)Ctc>Atc	p.L411I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	411					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTATTCCAGAGATATTCATAA	0.358																																					p.L411I													.	DDX60	304		0			c.C1231A												80	77	78					4																	169208307		2203	4299	6502	SO:0001583	missense	55601	exon10			TCCAGAGATATTC	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1231C>A	4.37:g.169208307G>T	ENSP00000377344:p.Leu411Ile		280	0	0		261	0.02	4	NM_017631	1	0	0	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988983	0.35131	.	.	ENSG00000137628	ENST00000393743	T	0.34072	1.38	4.72	3.72	0.42706	.	0.000000	0.46758	D	0.000261	T	0.56848	0.2013	M	0.77820	2.39	0.25506	N	0.987502	D	0.89917	1.0	D	0.91635	0.999	T	0.46400	-0.9194	10	0.51188	T	0.08	.	9.9394	0.41572	0.145:0.0:0.855:0.0	.	411	Q8IY21	DDX60_HUMAN	I	411	ENSP00000377344:L411I	ENSP00000377344:L411I	L	-	1	0	DDX60	169444882	0.997000	0.39634	0.995000	0.50966	0.089000	0.18198	1.408000	0.34668	2.149000	0.67028	0.467000	0.42956	CTC			0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364622.1		NM_017631		T	169208307	G	T	169208307	3	4	96	1	0	0	0	0	1	0	0	0	4380	942	33	3	4023	3	DDX60	4	169208307	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8934348	169208307	21945969	190	6975											
TRIP13	9319	mdanderson.org	37	chr5	893199	893199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtggaggtgcatcagcgcgGcagcaggtgagccggacctg	7	5	18	11	4	1	1	1	1	0	0	1	3	1	3	2	5	4	3	2	5	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:893199G>T	ENST00000166345.3	+	1	442	c.86G>T	c.(85-87)gGc>gTc	p.G29V	BRD9_ENST00000435709.2_5'Flank|BRD9_ENST00000483173.1_5'Flank|BRD9_ENST00000467963.1_5'Flank	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	29					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CATCAGCGCGGCAGCAGGTGA	0.706																																					p.G29V													.	.			0			c.G86T												18	16	17					5																	893199		2180	4277	6457	SO:0001583	missense	9319	exon1			AGCGCGGCAGCAG	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.86G>T	5.37:g.893199G>T	ENSP00000166345:p.Gly29Val		26	0	0		28	0.11	3	NM_001166260	21	0	0	C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704448	0.15172	.	.	ENSG00000071539	ENST00000166345;ENST00000354240	D	0.94376	-3.41	3.86	3.86	0.44501	.	0.435189	0.24215	U	0.040493	T	0.81202	0.4773	N	0.02539	-0.55	0.22779	N	0.998748	B	0.02656	0.0	B	0.04013	0.001	T	0.70174	-0.4944	10	0.29301	T	0.29	-0.4666	10.3823	0.44119	0.0:0.3419:0.6581:0.0	.	29	Q15645	PCH2_HUMAN	V	29	ENSP00000166345:G29V	ENSP00000166345:G29V	G	+	2	0	TRIP13	946199	0.105000	0.21958	0.639000	0.29394	0.588000	0.36517	2.317000	0.43770	1.699000	0.51192	0.297000	0.19635	GGC			0.706	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206721.2		NM_004237		T	893199	G	T	893199	3	4	96	1	0	0	0	0	1	0	0	0	16581	1203	42	2	88	2	TRIP13	5	893199	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		893199	180022061	191	6976											
PDZD2	23037	broad.mit.edu	37	chr5	32098547	32098547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttccttctgtcagtcaaCggcgcctcactggctggctt	5	13	10	13	2	4	0	3	0	1	0	5	1	5	0	2	3	1	2	2	3	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:32098547C>T	ENST00000438447.1	+	23	8413	c.8025C>T	c.(8023-8025)aaC>aaT	p.N2675N	PDZD2_ENST00000282493.3_Silent_p.N2675N			O15018	PDZD2_HUMAN	PDZ domain containing 2	2675	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						TGTCAGTCAACGGCGCCTCAC	0.567																																					p.N2675N													.	PDZD2	306		0			c.C8025T												66	68	67					5																	32098547		2203	4300	6503	SO:0001819	synonymous_variant	23037	exon22			AGTCAACGGCGCC	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.8025C>T	5.37:g.32098547C>T			118	0	0		119	0.03	4	NM_178140	6	0	0	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																					0.567	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366608.1				T	32098547	C	T	32098547	2	4	96	1	0	0	0	0	0	0	0	1	11718	535	19	1		1	PDZD2	5	32098547	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	31205348	32098547	148816713	192	6977											
C5orf23	4883	broad.mit.edu	37	chr5	32789680	32789680	+	3'UTR	DEL	C	C	-																															aacacctccttttctcctttCtcttaaattcaaagacgttt																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:32789680delC	ENST00000265074.8	+	0	5198				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.S58fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						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)	TTTCTCCTTTCTCTTAAATTC	0.398																																					.													.	NPR3	65		0			.												92	92	92					5																	32789680		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0	.			TCCTTTCTCTTAA		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.*3229C>-	5.37:g.32789680delC			298	0	0		287	0.02	7	.	0		0	A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	CCDS56357.1																																																																																					0.398	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317550.3		NM_000908		-	32789680	C	-	32789680	6	5	96	0	1	1	0	1	0	0	0	0	2288	913	32	0		0	C5orf23	5	32789680	3'UTR	DEL	C	TCGA-VF-A8A8-01A-11D-A435-10	691133	32789680	148125580	193	6978											
ADAMTS12	81792	broad.mit.edu	37	chr5	33614434	33614434	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcaaggccatctttctgGattgtgtactcatacttgat	8	17	8	8	0	4	1	2	1	2	0	4	2	4	2	1	2	2	1	1	2	3	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:33614434G>T	ENST00000504830.1	-	16	2771	c.2436C>A	c.(2434-2436)atC>atA	p.I812I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.I727I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	812	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATCTTTCTGGATTGTGTACT	0.478										HNSCC(64;0.19)																											p.I812I													.	ADAMTS12	464		0			c.C2436A												206	151	169					5																	33614434		2203	4300	6503	SO:0001819	synonymous_variant	81792	exon16			TTTCTGGATTGTG	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2436C>A	5.37:g.33614434G>T			93	0	0		91	0.04	4	NM_030955	1	0	0	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																					0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367164.2		NM_030955		T	33614434	G	T	33614434	2	4	96	1	0	0	0	0	0	0	0	1	257	1164	41	3		3	ADAMTS12	5	33614434	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	824754	33614434	147300826	194	6979											
OSMR	9180	broad.mit.edu	37	chr5	38933393	38933393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacccatgtttggagacaaGgacagtctcccaacaaaccc	13	7	7	14	0	2	1	1	0	1	1	3	3	2	2	3	2	2	1	3	2	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:38933393G>T	ENST00000274276.3	+	18	3189	c.2787G>T	c.(2785-2787)aaG>aaT	p.K929N		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	929					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)					TTGGAGACAAGGACAGTCTCC	0.488																																					p.K929N													.	OSMR	133		0			c.G2787T												100	103	102					5																	38933393		2203	4300	6503	SO:0001583	missense	9180	exon18			AGACAAGGACAGT	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.2787G>T	5.37:g.38933393G>T	ENSP00000274276:p.Lys929Asn		270	0	0		235	0.01	3	NM_003999	2	0	0	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464811	0.63513	.	.	ENSG00000145623	ENST00000274276	T	0.50001	0.76	5.58	2.35	0.29111	.	0.231055	0.30593	N	0.009288	T	0.54175	0.1842	L	0.55481	1.735	0.21445	N	0.999689	D	0.63880	0.993	P	0.62435	0.902	T	0.40720	-0.9548	10	0.66056	D	0.02	.	5.9558	0.19273	0.1934:0.1636:0.643:0.0	.	929	Q99650	OSMR_HUMAN	N	929	ENSP00000274276:K929N	ENSP00000274276:K929N	K	+	3	2	OSMR	38969150	0.995000	0.38212	0.310000	0.25168	0.906000	0.53458	1.233000	0.32648	0.695000	0.31675	0.655000	0.94253	AAG			0.488	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000207609.2		NM_003999		T	38933393	G	T	38933393	3	4	96	1	0	0	0	0	1	0	0	0	11309	991	35	3	2891	3	OSMR	5	38933393	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5318959	38933393	141981867	195	6980											
RICTOR	253260	broad.mit.edu;bcgsc.ca	37	chr5	38958837	38958837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttttgtttttatcatgtaGctgggtcactaacaactcaa	10	16	7	8	1	3	0	3	0	0	0	3	0	3	0	0	1	3	4	0	1	5	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:38958837G>T	ENST00000357387.3	-	23	2305	c.2275C>A	c.(2275-2277)Cta>Ata	p.L759I	RICTOR_ENST00000296782.5_Missense_Mutation_p.L759I|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTATCATGTAGCTGGGTCACT	0.333																																					p.L759I													.	RICTOR	182		0			c.C2275A												90	91	91					5																	38958837		2203	4299	6502	SO:0001583	missense	253260	exon23			CATGTAGCTGGGT		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2275C>A	5.37:g.38958837G>T	ENSP00000349959:p.Leu759Ile		198	0.0050505051	1		176	0.03	6	NM_152756	1	0	0		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112537	0.77210	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.75050	-0.46;-0.9	5.26	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84732	0.5537	M	0.73217	2.22	0.58432	D	0.999998	D;D	0.67145	0.972;0.996	D;D	0.75484	0.924;0.986	D	0.86125	0.1571	10	0.87932	D	0	-7.3862	14.4741	0.67535	0.0731:0.0:0.9269:0.0	.	759;759	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	759	ENSP00000349959:L759I;ENSP00000296782:L759I	ENSP00000296782:L759I	L	-	1	2	RICTOR	38994594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.277000	0.65586	2.616000	0.88540	0.563000	0.77884	CTA			0.333	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366985.1		NM_152756		T	38958837	G	T	38958837	3	4	96	1	0	0	0	0	1	0	0	0	13381	962	34	2	2915	2	RICTOR	5	38958837	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	25444	38958837	141956423	196	6981											
WDR41	55255	broad.mit.edu	37	chr5	76736715	76736715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttcttgttgggtgtccaGttgtggagatgggtcccaga	6	15	14	6	0	1	2	0	0	1	2	3	3	3	2	2	3	0	2	2	3	1	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:76736715G>T	ENST00000296679.4	-	9	1180	c.805C>A	c.(805-807)Ctg>Atg	p.L269M	WDR41_ENST00000507029.1_Missense_Mutation_p.L214M|WDR41_ENST00000414719.2_Missense_Mutation_p.L15M	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	269						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TGGGTGTCCAGTTGTGGAGAT	0.438																																					p.L269M													.	WDR41	29		0			c.C805A												134	132	133					5																	76736715		2203	4300	6503	SO:0001583	missense	55255	exon9			TGTCCAGTTGTGG	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.805C>A	5.37:g.76736715G>T	ENSP00000296679:p.Leu269Met		90	0.0111111111	1		98	0.04	4	NM_018268	33	0.03	1	B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	CCDS4038.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.82|13.82	2.349724|2.349724	0.41599|0.41599	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791|ENST00000511630	T;T;T;T;T;T|.	0.68331|.	-0.28;-0.25;-0.28;-0.28;-0.32;1.48|.	5.95|5.95	5.08|5.08	0.68730|0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.534882|.	0.20407|.	N|.	0.092921|.	T|T	0.52613|0.52613	0.1745|0.1745	L|L	0.51422|0.51422	1.61|1.61	0.24066|0.24066	N|N	0.995999|0.995999	B;B;P|.	0.38642|.	0.257;0.257;0.641|.	B;B;B|.	0.35353|.	0.201;0.201;0.101|.	T|T	0.46005|0.46005	-0.9222|-0.9222	10|5	0.33940|.	T|.	0.23|.	0.2804|0.2804	14.8026|14.8026	0.69926|0.69926	0.0:0.2727:0.7273:0.0|0.0:0.2727:0.7273:0.0	.|.	214;15;269|.	B4DT55;B4E2L4;Q9HAD4|.	.;.;WDR41_HUMAN|.	M|K	269;15;204;214;40;61|94	ENSP00000296679:L269M;ENSP00000392931:L15M;ENSP00000426499:L204M;ENSP00000424287:L214M;ENSP00000427291:L40M;ENSP00000423540:L61M|.	ENSP00000296679:L269M|.	L|N	-|-	1|3	2|2	WDR41|WDR41	76772471|76772471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.770000|0.770000	0.43624|0.43624	1.089000|1.089000	0.30890|0.30890	1.503000|1.503000	0.48686|0.48686	0.650000|0.650000	0.86243|0.86243	CTG|AAC			0.438	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000220014.2		NM_018268		T	76736715	G	T	76736715	3	4	96	1	0	0	0	0	1	0	0	0	17318	1020	36	3	594	3	WDR41	5	76736715	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	37777878	76736715	104178545	197	6982											
MSH3	4437	broad.mit.edu	37	chr5	80160704	80160704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaaaattactcacaccagGtggggaattaccacatggga	17	7	9	8	0	1	0	1	0	0	0	1	2	1	2	2	4	2	0	2	4	6	2	rs375336744		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:80160704G>T	ENST00000265081.6	+	22	3153	c.3073G>T	c.(3073-3075)Gtg>Ttg	p.V1025L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1025					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTCACACCAGGTGGGGAATTA	0.388								Mismatch excision repair (MMR)																													p.V1025L	Melanoma(88;1010 1399 13793 26548 36275)												.	MSH3	129		0			c.G3073T												108	104	105					5																	80160704		2203	4300	6503	SO:0001583	missense	4437	exon22			CACCAGGTGGGGA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.3073G>T	5.37:g.80160704G>T	ENSP00000265081:p.Val1025Leu		159	0	0		140	0.04	5	NM_002439	24	0	0	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767130	0.69878	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.87729	-2.29	5.88	5.88	0.94601	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	L	0.45051	1.395	0.47511	D	0.999446	D	0.89917	1.0	D	0.87578	0.998	D	0.89529	0.3784	9	.	.	.	-17.7445	20.2371	0.98361	0.0:0.0:1.0:0.0	.	1025	P20585	MSH3_HUMAN	L	1025;1016	ENSP00000265081:V1025L	.	V	+	1	0	MSH3	80196460	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	8.031000	0.88826	2.788000	0.95919	0.555000	0.69702	GTG			0.388	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369471.1		NM_002439		T	80160704	G	T	80160704	3	4	96	1	0	0	0	0	1	0	0	0	9887	1261	44	3	3159	3	MSH3	5	80160704	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3423989	80160704	100754556	198	6983											
GPR98	84059	broad.mit.edu	37	chr5	89918485	89918485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttactctcatcagggaaaaGggaacctatggaatggtcat	13	10	10	8	0	3	0	3	0	1	0	4	3	3	3	1	4	2	0	1	4	6	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:89918485G>T	ENST00000405460.2	+	5	621	c.525G>T	c.(523-525)aaG>aaT	p.K175N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	175	Calx-beta 2. {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)	p.K175N(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)		TCAGGGAAAAGGGAACCTATG	0.368																																					p.K175N													GPR98,NS,carcinoma,0,1	GPR98	605	1	1	Substitution - Missense(1)	lung(1)	c.G525T												64	63	64					5																	89918485		1867	4116	5983	SO:0001583	missense	84059	exon5			GGAAAAGGGAACC	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.525G>T	5.37:g.89918485G>T	ENSP00000384582:p.Lys175Asn		284	0	0		336	0.01	4	NM_032119	0		0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975558	0.74360	.	.	ENSG00000164199	ENST00000508842;ENST00000405460;ENST00000296619;ENST00000399043	T;T	0.58797	0.31;1.72	5.85	1.23	0.21249	Na-Ca exchanger/integrin-beta4 (2);	0.045251	0.85682	D	0.000000	T	0.72285	0.3441	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71337	-0.4623	10	0.72032	D	0.01	.	10.12	0.42614	0.6999:0.0:0.3001:0.0	.	175	Q8WXG9	GPR98_HUMAN	N	147;175;175;175	ENSP00000425936:K147N;ENSP00000384582:K175N	ENSP00000296619:K175N	K	+	3	2	GPR98	89954241	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	0.949000	0.29109	-0.013000	0.14199	0.655000	0.94253	AAG			0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369993.2		NM_032119		T	89918485	G	T	89918485	3	4	96	1	0	0	0	0	1	0	0	0	6736	991	35	3	543	3	GPR98	5	89918485	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	9757781	89918485	90996775	199	6984											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631695	101631695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattgaggatggaagttcCtccagccgtaagacccctcc	10	8	10	13	1	0	2	0	1	0	1	3	5	3	4	6	2	1	2	6	2	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:101631695C>G	ENST00000310954.6	-	1	558	c.272G>C	c.(271-273)aGg>aCg	p.R91T		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)		ATGGAAGTTCCTCCAGCCGTA	0.582																																					p.R91T													.	SLCO4C1	113		0			c.G272C												77	78	78					5																	101631695		2203	4300	6503	SO:0001583	missense	353189	exon1			AAGTTCCTCCAGC	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.272G>C	5.37:g.101631695C>G	ENSP00000309741:p.Arg91Thr		198	0	0		212	0.04	8	NM_180991	1	0	0		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	5.557	0.287623	0.10513	.	.	ENSG00000173930	ENST00000310954	T	0.37584	1.19	4.16	4.16	0.48862	Major facilitator superfamily domain, general substrate transporter (1);	0.506647	0.16749	N	0.201107	T	0.33177	0.0854	L	0.44542	1.39	0.27125	N	0.962032	B	0.20052	0.041	B	0.27887	0.084	T	0.15549	-1.0433	10	0.22706	T	0.39	.	14.7976	0.69889	0.0:1.0:0.0:0.0	.	91	Q6ZQN7	SO4C1_HUMAN	T	91	ENSP00000309741:R91T	ENSP00000309741:R91T	R	-	2	0	SLCO4C1	101659594	0.957000	0.32711	0.147000	0.22382	0.042000	0.13812	4.252000	0.58785	2.121000	0.65114	0.591000	0.81541	AGG			0.582	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370332.1		NM_180991		G	101631695	C	G	101631695	3	3	96	1	0	0	0	0	1	0	0	0	14753	681	24	5	1954	5	SLCO4C1	5	101631695	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	11713210	101631695	79283565	200	6985											
SLC22A4	6583	broad.mit.edu	37	chr5	131676374	131676374	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccagaaaccttagagCagatgcagaaagtgaaatgg	15	8	10	8	0	1	5	0	1	1	4	2	5	2	5	2	1	3	2	2	1	4	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:131676374C>T	ENST00000200652.3	+	9	1735	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	521					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AACCTTAGAGCAGATGCAGAA	0.418																																					p.Q521X													.	SLC22A4	45		0			c.C1561T												160	152	155					5																	131676374		2203	4300	6503	SO:0001587	stop_gained	6583	exon9			TTAGAGCAGATGC	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1561C>T	5.37:g.131676374C>T	ENSP00000200652:p.Gln521*		107	0	0		142	0.02	3	NM_003059	0		0	O14546	Nonsense_Mutation	SNP	ENST00000200652.3	37	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195675	0.94960	.	.	ENSG00000197208	ENST00000200652	.	.	.	5.07	3.25	0.37280	.	0.128122	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.1279	0.81406	0.0:0.4783:0.5217:0.0	.	.	.	.	X	521	.	ENSP00000200652:Q521X	Q	+	1	0	SLC22A4	131704273	0.700000	0.27796	0.989000	0.46669	0.603000	0.37013	1.355000	0.34068	0.502000	0.28037	-0.302000	0.09304	CAG			0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132661.1		NM_003059		T	131676374	C	T	131676374	4	4	96	1	0	0	0	0	0	1	0	0	14479	711	25	2	1595	2	SLC22A4	5	131676374	Nonsense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	30044679	131676374	49238886	201	6986											
EGR1	1958	broad.mit.edu	37	chr5	137802588	137802588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacagtggcaacaccttgtgGcccgagcccctcttcagctt	8	9	9	15	1	2	0	1	0	1	0	2	1	2	0	4	2	4	2	4	2	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:137802588G>T	ENST00000239938.4	+	2	722	c.450G>T	c.(448-450)tgG>tgT	p.W150C		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	150					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.W150*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACACCTTGTGGCCCGAGCCCC	0.632																																					p.W150C													EGR1,colon,carcinoma,0,1	EGR1	52	1	1	Substitution - Nonsense(1)	large_intestine(1)	c.G450T												94	99	97					5																	137802588		2203	4300	6503	SO:0001583	missense	1958	exon2			CTTGTGGCCCGAG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.450G>T	5.37:g.137802588G>T	ENSP00000239938:p.Trp150Cys		105	0	0		139	0.04	6	NM_001964	15	0	0		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621211	0.66787	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.38560	1.13	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.64404	1.975	0.80722	D	1	B	0.32543	0.375	B	0.34242	0.178	T	0.46512	-0.9186	10	0.44086	T	0.13	-5.869	18.0413	0.89319	0.0:0.0:1.0:0.0	.	150	P18146	EGR1_HUMAN	C	150	ENSP00000239938:W150C	ENSP00000239938:W150C	W	+	3	0	EGR1	137830487	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.876000	0.87215	2.251000	0.74343	0.462000	0.41574	TGG			0.632	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251274.1		NM_001964		T	137802588	G	T	137802588	3	4	96	1	0	0	0	0	1	0	0	0	4976	1212	42	2	456	2	EGR1	5	137802588	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6126214	137802588	43112672	202	6987											
NDST1	3340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	149932837	149932837	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctctccaagctgctgtaTaagatgggccagacacttcc	10	9	10	12	0	1	2	0	0	1	2	3	3	2	2	3	1	3	4	3	1	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:149932837T>G	ENST00000261797.6	+	15	3094	c.2592T>G	c.(2590-2592)taT>taG	p.Y864*	NDST1_ENST00000523767.1_Nonsense_Mutation_p.Y807*|NDST1_ENST00000521752.1_3'UTR	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	864	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTGCTGTATAAGATGGGCC	0.547																																					p.Y864X													.	.			0			c.T2592G												245	239	241					5																	149932837		2203	4300	6503	SO:0001587	stop_gained	3340	exon15			GCTGTATAAGATG	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2592T>G	5.37:g.149932837T>G	ENSP00000261797:p.Tyr864*		78	0	0		94	0.52	49	NM_001543	52	0.56	29	Q96E57	Nonsense_Mutation	SNP	ENST00000261797.6	37	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	T	44	10.828773	0.99474	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	.	.	.	4.79	0.862	0.19056	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	9.7325	0.40370	0.0:0.6163:0.0:0.3837	.	.	.	.	X	807;864	.	ENSP00000261797:Y864X	Y	+	3	2	NDST1	149913030	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.826000	0.39092	0.165000	0.19558	-0.220000	0.12472	TAT			0.547	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374314.2		NM_001543		G	149932837	T	G	149932837	4	3	96	1	0	0	0	0	0	1	0	0	10272	1413	49	4	2646	4	NDST1	5	149932837	Nonsense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	12130249	149932837	30982423	203	6988											
GRIA1	2890	broad.mit.edu	37	chr5	153026671	153026671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcaggatgccctcatcaGcatcattgaccattacaagt	12	10	7	12	0	3	1	3	1	0	0	3	2	3	2	2	1	4	2	2	1	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:153026671G>T	ENST00000285900.5	+	3	747	c.404G>T	c.(403-405)aGc>aTc	p.S135I	GRIA1_ENST00000521843.2_Missense_Mutation_p.S66I|GRIA1_ENST00000518783.1_Missense_Mutation_p.S145I|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.S135I|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.S145I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	135					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)	GCCCTCATCAGCATCATTGAC	0.522																																					p.S145I													.	GRIA1	321		0			c.G434T												132	124	126					5																	153026671		2203	4300	6503	SO:0001583	missense	0	exon3			TCATCAGCATCAT		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.404G>T	5.37:g.153026671G>T	ENSP00000285900:p.Ser135Ile		150	0	0		147	0.02	3	NM_001258021	9	0	0	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843754	0.71488	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.041745	0.85682	D	0.000000	D	0.85762	0.5772	L	0.43923	1.385	0.54753	D	0.999986	P;D;P;D;P	0.63046	0.87;0.992;0.87;0.99;0.836	P;P;P;P;P	0.54759	0.566;0.76;0.566;0.647;0.637	D	0.87140	0.2202	10	0.87932	D	0	.	18.489	0.90839	0.0:0.0:1.0:0.0	.	145;145;145;135;135	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	I	135;135;89;135;66;66;145;145	ENSP00000285900:S135I;ENSP00000339343:S135I;ENSP00000427864:S66I;ENSP00000442108:S66I;ENSP00000428994:S145I;ENSP00000415569:S145I	ENSP00000285900:S135I	S	+	2	0	GRIA1	153006864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.079000	0.50104	2.612000	0.88384	0.655000	0.94253	AGC			0.522	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252456.3				T	153026671	G	T	153026671	3	4	96	1	0	0	0	0	1	0	0	0	6782	971	34	2	414	2	GRIA1	5	153026671	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3093834	153026671	27888589	204	6989											
GABRB2	2561	broad.mit.edu	37	chr5	160721152	160721152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccactgggaagaatatgCgggaccaccgatctatggca	14	6	11	10	2	1	1	0	0	1	1	1	4	1	3	3	3	2	1	3	3	5	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:160721152C>T	ENST00000393959.1	-	10	1474	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	GABRB2_ENST00000274547.2_Missense_Mutation_p.R492H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R391H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R454H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R454H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R294H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	492					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)|Ginkgo biloba(DB01381)|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)	GAAGAATATGCGGGACCACCG	0.473																																					p.R492H													GABRB2_ENST00000274547,NS,carcinoma,-1,2	GABRB2	161	2	0			c.G1475A												136	131	132					5																	160721152		2203	4300	6503	SO:0001583	missense	0	exon11			AATATGCGGGACC		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1475G>A	5.37:g.160721152C>T	ENSP00000377531:p.Arg492His		228	0.0043859649	1		172	0.02	4	NM_021911	0		0	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422556	0.96111	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95172	0.8435	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.995;1.0;0.995	D	0.95197	0.8313	10	0.87932	D	0	.	19.9447	0.97177	0.0:1.0:0.0:0.0	.	294;391;492;454	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	492;492;454;454;391;294	ENSP00000377531:R492H;ENSP00000274547:R492H;ENSP00000274546:R454H;ENSP00000429320:R454H;ENSP00000430532:R391H;ENSP00000429750:R294H	ENSP00000274547:R492H	R	-	2	0	GABRB2	160653730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.717000	0.84732	2.719000	0.93026	0.655000	0.94253	CGC			0.473	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252704.1				T	160721152	C	T	160721152	3	4	96	1	0	0	0	0	1	0	0	0	6180	768	27	1	67	1	GABRB2	5	160721152	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	7694481	160721152	20194108	205	6990											
WWC1	23286	broad.mit.edu	37	chr5	167719173	167719173	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagatgccccggccggagCtgcccctgccggagggctgg	5	4	18	14	3	0	1	0	0	0	1	0	4	0	4	6	6	4	2	6	6	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:167719173C>T	ENST00000265293.4	+	1	518	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	WWC1_ENST00000521089.1_Silent_p.L6L	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	6	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)		CCGGCCGGAGCTGCCCCTGCC	0.726																																					p.L6L													.	WWC1	98		0			c.C16T												29	26	27					5																	167719173		2086	4160	6246	SO:0001819	synonymous_variant	23286	exon1			CCGGAGCTGCCCC	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.16C>T	5.37:g.167719173C>T			126	0.0079365079	1		150	0.02	3	NM_015238	1	0	0	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	CCDS4366.1																																																																																					0.726	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000252791.2		NM_015238		T	167719173	C	T	167719173	2	4	96	1	0	0	0	0	0	0	0	1	17435	796	28	2		2	WWC1	5	167719173	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	6998021	167719173	13196087	206	6991											
STK10	6793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	171520918	171520918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttgtcagcattgaggCttggcggactcacctcagag	8	9	14	10	1	3	2	3	1	0	1	3	4	3	3	1	4	1	3	1	4	0	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:171520918C>A	ENST00000176763.5	-	9	1395	c.1052G>T	c.(1051-1053)aGc>aTc	p.S351I	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	351					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCATTGAGGCTTGGCGGACT	0.522																																					p.S351I													.	.			0			c.G1052T												41	44	43					5																	171520918		2169	4288	6457	SO:0001583	missense	6793	exon9			TTGAGGCTTGGCG	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1052G>T	5.37:g.171520918C>A	ENSP00000176763:p.Ser351Ile		141	0	0		164	0.48	78	NM_005990	34	0.56	19	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506631	0.26949	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.53857	0.6	4.78	3.91	0.45181	Protein kinase-like domain (1);	0.640066	0.16164	N	0.226607	T	0.47340	0.1440	M	0.62723	1.935	0.22034	N	0.999401	P	0.40970	0.734	B	0.36885	0.235	T	0.44375	-0.9332	10	0.56958	D	0.05	.	9.4435	0.38684	0.0:0.9001:0.0:0.0999	.	351	O94804	STK10_HUMAN	I	351	ENSP00000176763:S351I	ENSP00000176763:S351I	S	-	2	0	STK10	171453523	1.000000	0.71417	0.015000	0.15790	0.001000	0.01503	2.230000	0.42999	1.132000	0.42129	-0.150000	0.13652	AGC			0.522	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372374.2		NM_005990		A	171520918	C	A	171520918	3	1	96	1	0	0	0	0	1	0	0	0	15309	797	28	2	1898	2	STK10	5	171520918	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	3801745	171520918	9394342	207	6992											
STC2	8614	broad.mit.edu	37	chr5	172750382	172750382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgcagccgaacctgtGccgcagagcgtgggccttac	7	8	13	13	3	0	1	0	0	0	1	0	2	0	1	4	1	6	3	4	1	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:172750382G>T	ENST00000265087.4	-	3	1655	c.346C>A	c.(346-348)Cac>Aac	p.H116N	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	116					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)			CCGAACCTGTGCCGCAGAGCG	0.592																																					p.H116N													.	STC2	59		0			c.C346A												37	33	34					5																	172750382		2203	4300	6503	SO:0001583	missense	8614	exon3			ACCTGTGCCGCAG	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.346C>A	5.37:g.172750382G>T	ENSP00000265087:p.His116Asn		183	0.0109289617	2		150	0.03	5	NM_003714	200	0.02	4		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.233125|4.233125	0.79688|0.79688	.|.	.|.	ENSG00000113739|ENSG00000113739	ENST00000520648|ENST00000265087;ENST00000518455	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.097540	.|0.64402	.|D	.|0.000001	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.50919|0.50919	1.6|1.6	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.40398	.|0.716	.|B	.|0.43052	.|0.406	T|T	0.58696|0.58696	-0.7591|-0.7591	5|9	.|0.39692	.|T	.|0.17	-24.4682|-24.4682	19.2469|19.2469	0.93905|0.93905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|116	.|O76061	.|STC2_HUMAN	E|N	69|116;31	.|.	.|ENSP00000265087:H116N	A|H	-|-	2|1	0|0	STC2|STC2	172682988|172682988	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.856000|0.856000	0.48823|0.48823	9.476000|9.476000	0.97823|0.97823	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GCA|CAC			0.592	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252965.1		NM_003714		T	172750382	G	T	172750382	3	4	96	1	0	0	0	0	1	0	0	0	15299	1319	46	2	570	2	STC2	5	172750382	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1229464	172750382	8164878	208	6993											
CDHR2	54825	broad.mit.edu	37	chr5	176002409	176002409	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttttactcggcctctgtGgctgaggatgcagccaaggt	7	11	14	9	1	1	1	0	1	1	0	2	3	1	2	2	4	3	3	2	4	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:176002409G>T	ENST00000510636.1	+	9	1024	c.750G>T	c.(748-750)gtG>gtT	p.V250V	CDHR2_ENST00000506348.1_Silent_p.V250V|CDHR2_ENST00000261944.5_Silent_p.V250V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CGGCCTCTGTGGCTGAGGATG	0.627																																					p.V250V													.	CDHR2	152		0			c.G750T												78	78	78					5																	176002409		2203	4300	6503	SO:0001819	synonymous_variant	54825	exon9			CTCTGTGGCTGAG	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.750G>T	5.37:g.176002409G>T			175	0.0057142857	1		125	0.03	4	NM_017675	0		0	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																					0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372201.1		NM_017675		T	176002409	G	T	176002409	2	4	96	1	0	0	0	0	0	0	0	1	3121	1335	47	3		3	CDHR2	5	176002409	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3252027	176002409	4912851	209	6994											
FGFR4	2264	broad.mit.edu	37	chr5	176519440	176519440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccagccccacatccaGtggctgaagcacatcgtcat	10	7	9	15	1	1	1	1	1	0	0	3	2	2	1	4	1	3	2	4	1	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr5:176519440G>T	ENST00000292408.4	+	7	1091	c.846G>T	c.(844-846)caG>caT	p.Q282H	FGFR4_ENST00000292410.3_Missense_Mutation_p.Q282H|FGFR4_ENST00000393648.2_Missense_Mutation_p.Q282H|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q282H|FGFR4_ENST00000393637.1_Missense_Mutation_p.Q282H	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	282	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CCCACATCCAGTGGCTGAAGC	0.627										TSP Lung(9;0.080)																											p.Q282H													.	FGFR4	174		0			c.G846T												38	37	37					5																	176519440		2202	4299	6501	SO:0001583	missense	2264	exon6			CATCCAGTGGCTG	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.846G>T	5.37:g.176519440G>T	ENSP00000292408:p.Gln282His		215	0.0093023256	2		254	0.02	4	NM_022963	58	0	0	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933632	0.73442	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	4.7	2.92	0.33932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.305959	0.36854	N	0.002364	T	0.73729	0.3624	L	0.49513	1.565	0.45962	D	0.998783	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;D;D	0.91635	0.999;0.998;0.994;0.999	T	0.72629	-0.4235	10	0.87932	D	0	.	8.2183	0.31526	0.2481:0.0:0.7519:0.0	.	282;282;282;282	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	H	282;282;282;282;282;394	ENSP00000292408:Q282H;ENSP00000377259:Q282H;ENSP00000424960:Q282H;ENSP00000292410:Q282H;ENSP00000377254:Q282H	ENSP00000292408:Q282H	Q	+	3	2	FGFR4	176452046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.577000	0.53885	0.531000	0.28639	0.561000	0.74099	CAG			0.627	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253410.1				T	176519440	G	T	176519440	3	4	96	1	0	0	0	0	1	0	0	0	5881	1020	36	3	868	3	FGFR4	5	176519440	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	517031	176519440	4395820	210	6995											
EXOC2	55770	broad.mit.edu	37	chr6	629857	629857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaatctcaatgccaagcgGgttagcaggacgtaaggaca	13	8	11	9	2	2	0	2	0	1	0	3	2	2	2	1	3	3	3	1	3	5	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:629857G>T	ENST00000230449.4	-	4	535	c.400C>A	c.(400-402)Ccg>Acg	p.P134T	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	134					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ATGCCAAGCGGGTTAGCAGGA	0.403																																					p.P134T													.	EXOC2	81		0			c.C400A												151	130	137					6																	629857		2203	4300	6503	SO:0001583	missense	55770	exon4			CAAGCGGGTTAGC	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.400C>A	6.37:g.629857G>T	ENSP00000230449:p.Pro134Thr		132	0	0		197	0.02	4	NM_018303	7	0	0	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021112	0.75275	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	T;T	0.57436	0.4;0.52	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72824	-0.4176	10	0.87932	D	0	-13.3632	19.7741	0.96385	0.0:0.0:1.0:0.0	.	134	Q96KP1	EXOC2_HUMAN	T	134	ENSP00000230449:P134T;ENSP00000406400:P134T	ENSP00000230449:P134T	P	-	1	0	EXOC2	574857	1.000000	0.71417	0.368000	0.25939	0.438000	0.31896	9.476000	0.97823	2.673000	0.90976	0.557000	0.71058	CCG			0.403	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039627.1		NM_018303		T	629857	G	T	629857	3	4	96	1	0	0	0	0	1	0	0	0	5309	1232	43	3	2474	3	EXOC2	6	629857	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		629857	170485210	211	6996											
BPHL	670	mdanderson.org	37	chr6	3119019	3119019	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgttgcgcctgcggctGcttctctcagcgctgaagcc	3	10	14	14	4	2	1	1	1	1	0	3	1	2	1	2	2	5	4	2	2	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:3119019G>T	ENST00000380379.5	+	1	94	c.45G>T	c.(43-45)ctG>ctT	p.L15L	BPHL_ENST00000380375.3_5'UTR|BPHL_ENST00000434640.1_Intron|BPHL_ENST00000380368.2_5'UTR	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	15					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCCTGCGGCTGCTTCTCTCAG	0.716																																					p.L15L													.	.			0			c.G45T												5	12	10					6																	3119019		632	1506	2138	SO:0001819	synonymous_variant	670	exon1			GCGGCTGCTTCTC	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"breast epithelial mucin-associated antigen"	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.45G>T	6.37:g.3119019G>T			23	0.0434782609	1		49	0.06	3	NM_004332	25	0	0	Q00306|Q13855|Q3KP51	Silent	SNP	ENST00000380379.5	37	CCDS4483.2																																																																																					0.716	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039670.5				T	3119019	G	T	3119019	2	4	96	1	0	0	0	0	0	0	0	1	1491	1306	46	2		2	BPHL	6	3119019	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2489162	3119019	167996048	212	6997											
F13A1	2162	broad.mit.edu	37	chr6	6305608	6305608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtattccaccctgaagaGatcccttctggggtcatatg	9	11	10	11	1	2	2	1	1	1	1	4	4	4	2	3	2	0	1	3	2	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:6305608G>T	ENST00000264870.3	-	3	560	c.295C>A	c.(295-297)Ctc>Atc	p.L99I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	99					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACCCTGAAGAGATCCCTTCTG	0.493																																					p.L99I													.	F13A1	135		0			c.C295A												197	158	171					6																	6305608		2203	4300	6503	SO:0001583	missense	2162	exon3			TGAAGAGATCCCT	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.295C>A	6.37:g.6305608G>T	ENSP00000264870:p.Leu99Ile		146	0.0068493151	1		236	0.01	3	NM_000129	1	0	0	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.161092	0.21538	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.84730	-1.89;-1.89	5.57	-2.67	0.06059	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.075970	0.07153	N	0.849503	T	0.60025	0.2237	L	0.38531	1.155	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.49390	-0.8945	10	0.20046	T	0.44	.	12.1847	0.54231	0.5672:0.0:0.4328:0.0	.	99	P00488	F13A_HUMAN	I	99;99;137	ENSP00000264870:L99I;ENSP00000413334:L99I	ENSP00000264870:L99I	L	-	1	0	F13A1	6250607	0.083000	0.21467	0.162000	0.22713	0.886000	0.51366	-0.894000	0.04123	-0.458000	0.07023	0.650000	0.86243	CTC			0.493	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039756.3		NM_000129		T	6305608	G	T	6305608	3	4	96	1	0	0	0	0	1	0	0	0	5347	942	33	3	1955	3	F13A1	6	6305608	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3186589	6305608	164809459	213	6998											
TRIM38	10475	broad.mit.edu	37	chr6	25967154	25967154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttgaagacgtatgccaggGctacaaggtgagtgtgtggg	9	10	17	5	1	0	3	0	2	0	1	0	3	0	3	1	3	2	3	1	3	4	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:25967154G>T	ENST00000357085.3	+	3	880	c.404G>T	c.(403-405)gGc>gTc	p.G135V	TRIM38_ENST00000349458.3_Missense_Mutation_p.G135V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	135					negative regulation of defense response to virus (GO:0050687)|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)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GTATGCCAGGGCTACAAGGTG	0.537																																					p.G135V													.	TRIM38	50		0			c.G404T												49	51	50					6																	25967154		2203	4300	6503	SO:0001583	missense	10475	exon3			GCCAGGGCTACAA	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.404G>T	6.37:g.25967154G>T	ENSP00000349596:p.Gly135Val		114	0.0087719298	1		143	0.03	5	NM_006355	8	0	0	B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.851583	0.51270	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.56103	0.48;0.48;0.48	4.37	-4.42	0.03579	.	1.710340	0.03217	N	0.176967	T	0.28267	0.0698	L	0.27053	0.805	0.09310	N	0.999999	D;D	0.58268	0.982;0.982	P;P	0.53450	0.726;0.726	T	0.23332	-1.0191	10	0.39692	T	0.17	.	6.8773	0.24153	0.6165:0.0:0.2496:0.1339	.	135;135	B2R862;O00635	.;TRI38_HUMAN	V	135	ENSP00000443976:G135V;ENSP00000230099:G135V;ENSP00000349596:G135V	ENSP00000230099:G135V	G	+	2	0	TRIM38	26075133	0.000000	0.05858	0.000000	0.03702	0.669000	0.39330	-2.012000	0.01451	-1.091000	0.03065	-0.225000	0.12378	GGC			0.537	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040076.2				T	25967154	G	T	25967154	3	4	96	1	0	0	0	0	1	0	0	0	16536	1203	42	2	406	2	TRIM38	6	25967154	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	19661546	25967154	145147913	214	6999											
HIST1H1C	3006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26056602	26056602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccgccttcttctttacagGggccttctccgcaggaggcg	4	10	13	14	3	3	0	0	0	3	0	4	1	3	1	4	5	1	1	4	5	1	5	rs200705328		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:26056602G>C	ENST00000343677.2	-	1	97	c.55C>G	c.(55-57)Cct>Gct	p.P19A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	19					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						TTCTTTACAGGGGCCTTCTCC	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		14840	0		0	False		,,,				2504	0				p.P19A													.	.			0			c.C55G							G	ALA/PRO	0,4402		0,0,2201	32	38	36		55	4.9	0.1	6		36	2,8590		0,2,4294	no	missense	HIST1H1C	NM_005319.3	27	0,2,6495	CC,CG,GG		0.0233,0.0,0.0154	benign	19/214	26056602	2,12992	2201	4296	6497	SO:0001583	missense	3006	exon1			TTACAGGGGCCTT	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.55C>G	6.37:g.26056602G>C	ENSP00000339566:p.Pro19Ala		170	0	0		282	0.35	100	NM_005319	57	0.35	20	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.372	0.436826	0.12104	0.0	2.33E-4	ENSG00000187837	ENST00000343677	T	0.07444	3.19	5.73	4.86	0.63082	.	0.353403	0.25481	N	0.030375	T	0.01558	0.0050	N	0.08118	0	0.34847	D	0.741273	B	0.06786	0.001	B	0.04013	0.001	T	0.44174	-0.9345	10	0.33940	T	0.23	-13.3112	9.0882	0.36594	0.0794:0.2416:0.679:0.0	.	19	P16403	H12_HUMAN	A	19	ENSP00000339566:P19A	ENSP00000339566:P19A	P	-	1	0	HIST1H1C	26164581	0.986000	0.35501	0.121000	0.21740	0.003000	0.03518	1.169000	0.31871	1.562000	0.49601	0.655000	0.94253	CCT	0		0.607	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043372.1		NM_005319		C	26056602	G	C	26056602	3	2	96	1	0	0	0	0	1	0	0	0	7139	1232	43	5	590	5	HIST1H1C	6	26056602	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	89448	26056602	145058465	215	7000											
OR2B6	26212	broad.mit.edu	37	chr6	27925454	27925454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactctgcctccagttggcaGctgcatcctgggttactggt	5	12	12	12	0	1	0	0	0	1	0	3	1	3	0	3	3	4	5	3	3	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:27925454G>T	ENST00000244623.1	+	1	436	c.436G>T	c.(436-438)Gct>Tct	p.A146S		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	146						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(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGTTGGCAGCTGCATCCTG	0.493																																					p.A146S													.	OR2B6	48		0			c.G436T												104	106	105					6																	27925454		2203	4300	6503	SO:0001583	missense	26212	exon1			TTGGCAGCTGCAT	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"GPCR / Class A : Olfactory receptors"	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.436G>T	6.37:g.27925454G>T	ENSP00000244623:p.Ala146Ser		77	0	0		138	0.03	4	NM_012367	0		0	O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	4.821	0.152710	0.09185	.	.	ENSG00000124657	ENST00000244623	T	0.39997	1.05	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33553	U	0.004790	T	0.18341	0.0440	L	0.40543	1.245	0.27027	N	0.964325	P	0.35944	0.529	P	0.44696	0.458	T	0.14282	-1.0478	10	0.10377	T	0.69	.	7.7199	0.28725	0.1223:0.0:0.8776:0.0	.	146	P58173	OR2B6_HUMAN	S	146	ENSP00000244623:A146S	ENSP00000244623:A146S	A	+	1	0	OR2B6	28033433	0.001000	0.12720	0.992000	0.48379	0.804000	0.45430	0.911000	0.28584	1.964000	0.57103	0.563000	0.77884	GCT			0.493	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040165.1				T	27925454	G	T	27925454	3	4	96	1	0	0	0	0	1	0	0	0	11008	971	34	2	438	2	OR2B6	6	27925454	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1868852	27925454	143189613	216	7001											
NEU1	4758	broad.mit.edu	37	chr6	31830433	31830433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccttggaccaggaggctgCcagagacagcagcaggaaga	13	3	15	10	0	0	2	0	0	0	2	0	6	0	5	3	4	4	3	3	4	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:31830433C>T	ENST00000375631.4	-	1	250	c.121G>A	c.(121-123)Gca>Aca	p.A41T		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	41					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CAGGAGGCTGCCAGAGACAGC	0.642																																					p.A41T													.	NEU1	21		0			c.G121A												92	62	73					6																	31830433		1511	2709	4220	SO:0001583	missense	4758	exon1			AGGCTGCCAGAGA	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.121G>A	6.37:g.31830433C>T	ENSP00000364782:p.Ala41Thr		178	0.0112359551	2		242	0.02	6	NM_000434	96	0	0		Missense_Mutation	SNP	ENST00000375631.4	37	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533187	0.45073	.	.	ENSG00000204386	ENST00000375631	D	0.89415	-2.51	5.2	1.51	0.23008	.	0.643796	0.15484	N	0.259924	T	0.66025	0.2748	L	0.48362	1.52	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.52968	-0.8504	10	0.10111	T	0.7	-10.4701	7.1724	0.25726	0.0:0.6452:0.0:0.3548	.	41;41	E9PIF4;Q99519	.;NEUR1_HUMAN	T	41	ENSP00000364782:A41T	ENSP00000364782:A41T	A	-	1	0	NEU1	31938412	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.062000	0.11674	0.171000	0.19730	-0.136000	0.14681	GCA			0.642	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076616.2				T	31830433	C	T	31830433	3	4	96	1	0	0	0	0	1	0	0	0	10358	739	26	2	1150	2	NEU1	6	31830433	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	3904979	31830433	139284634	217	7002											
NOTCH4	4855	broad.mit.edu	37	chr6	32163486	32163486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcctgcagaaaacctacGgccgcgaggggtcgggcctc	8	5	14	14	4	0	1	0	0	0	1	2	2	0	1	4	4	4	1	4	4	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:32163486G>T	ENST00000375023.3	-	30	5878	c.5740C>A	c.(5740-5742)Cgt>Agt	p.R1914S	GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375040.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1914					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAAAACCTACGGCCGCGAGGG	0.677																																					p.R1914S													.	NOTCH4	201		0			c.C5740A												39	46	43					6																	32163486		1509	2708	4217	SO:0001583	missense	4855	exon30			ACCTACGGCCGCG		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5740C>A	6.37:g.32163486G>T	ENSP00000364163:p.Arg1914Ser		66	0	0		111	0.03	3	NM_004557	9	0	0	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247976	0.80024	.	.	ENSG00000204301	ENST00000375023	T	0.81247	-1.47	4.74	3.85	0.44370	.	0.169361	0.28572	N	0.014875	T	0.53626	0.1808	N	0.24115	0.695	0.40179	D	0.977264	P;P	0.42757	0.789;0.649	B;B	0.37550	0.235;0.253	T	0.61695	-0.7010	10	0.52906	T	0.07	.	10.3377	0.43860	0.0:0.0:0.8037:0.1963	.	1914;1913	Q99466;B0S882	NOTC4_HUMAN;.	S	1914	ENSP00000364163:R1914S	ENSP00000364163:R1914S	R	-	1	0	NOTCH4	32271464	0.001000	0.12720	0.123000	0.21794	0.869000	0.49853	0.823000	0.27366	1.321000	0.45227	0.650000	0.86243	CGT			0.677	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076045.2				T	32163486	G	T	32163486	3	4	96	1	0	0	0	0	1	0	0	0	10568	1116	39	1	275	1	NOTCH4	6	32163486	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	333053	32163486	138951581	218	7003											
STK38	11329	broad.mit.edu	37	chr6	36463608	36463608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattgccccccttgcagtcaGgccctcaaagcgcttgtacg	7	10	9	15	2	2	0	2	0	0	0	2	0	2	0	4	1	4	3	4	1	3	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:36463608G>T	ENST00000229812.7	-	14	1636	c.1351C>A	c.(1351-1353)Ctg>Atg	p.L451M		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						CTTGCAGTCAGGCCCTCAAAG	0.448																																					p.L451M	Colon(180;997 3561 16158)												.	STK38	54		0			c.C1351A												220	190	200					6																	36463608		2203	4300	6503	SO:0001583	missense	11329	exon14			CAGTCAGGCCCTC		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.1351C>A	6.37:g.36463608G>T	ENSP00000229812:p.Leu451Met		110	0	0		179	0.02	4	NM_007271	21	0	0		Missense_Mutation	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096461	0.76870	.	.	ENSG00000112079	ENST00000229812	T	0.54866	0.55	6.16	6.16	0.99307	AGC-kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	L	0.49699	1.58	0.80722	D	1	D	0.56968	0.978	P	0.50537	0.643	T	0.44620	-0.9316	10	0.42905	T	0.14	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	451	Q15208	STK38_HUMAN	M	451	ENSP00000229812:L451M	ENSP00000229812:L451M	L	-	1	2	STK38	36571586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.679000	0.74513	2.937000	0.99478	0.650000	0.86243	CTG			0.448	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040346.1		NM_007271		T	36463608	G	T	36463608	3	4	96	1	0	0	0	0	1	0	0	0	15326	991	35	3	50	3	STK38	6	36463608	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4300122	36463608	134651459	219	7004											
FGD2	221472	broad.mit.edu	37	chr6	36995746	36995746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagggctcacacctccaTccccctgctgggctaccagg	7	7	10	17	0	1	1	1	1	0	0	3	1	3	1	5	3	2	3	5	3	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:36995746T>C	ENST00000274963.8	+	16	1946	c.1775T>C	c.(1774-1776)aTc>aCc	p.I592T		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	592	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)|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						CACACCTCCATCCCCCTGCTG	0.637																																					p.I592T													.	FGD2	65		0			c.T1775C												47	40	42					6																	36995746		2203	4300	6503	SO:0001583	missense	221472	exon16			CCTCCATCCCCCT	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.1775T>C	6.37:g.36995746T>C	ENSP00000274963:p.Ile592Thr		143	0.0699300699	10		198	0.07	13	NM_173558	2	0	0	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634718	0.47049	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.60424	0.19	5.39	4.2	0.49525	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.44688	D	0.000431	T	0.44074	0.1276	L	0.61218	1.895	0.42033	D	0.991033	D	0.53619	0.961	P	0.44597	0.454	T	0.51426	-0.8707	10	0.87932	D	0	-6.958	11.0844	0.48078	0.0:0.0748:0.0:0.9252	.	592	Q7Z6J4	FGD2_HUMAN	T	592;220	ENSP00000274963:I592T	ENSP00000274963:I592T	I	+	2	0	FGD2	37103724	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.776000	0.68924	0.849000	0.35215	0.460000	0.39030	ATC			0.637	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040398.2		NM_173558		C	36995746	T	C	36995746	3	2	96	1	0	0	0	0	1	0	0	0	5846	1435	50	4	1837	4	FGD2	6	36995746	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	532138	36995746	134119321	220	7005											
DNAH8	1769	broad.mit.edu	37	chr6	38942237	38942237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaattaatcaagaccttctgGacatcagtaatttacccatg	14	12	6	9	0	3	1	2	0	1	1	3	3	3	2	2	1	1	1	2	1	5	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:38942237G>T	ENST00000359357.3	+	83	12369	c.12115G>T	c.(12115-12117)Gac>Tac	p.D4039Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.D4003Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4039	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGACCTTCTGGACATCAGTAA	0.423																																					p.D4256Y													DNAH8_ENST00000359357,bladder,carcinoma,0,2	DNAH8	1239	2	0			c.G12766T												96	87	90					6																	38942237		2203	4300	6503	SO:0001583	missense	1769	exon85			CTTCTGGACATCA	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.12115G>T	6.37:g.38942237G>T	ENSP00000352312:p.Asp4039Tyr		103	0.0097087379	1		177	0.04	7	NM_001206927	0		0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	23.8	4.458593	0.84317	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.09073	3.02;3.02;3.02	5.84	5.84	0.93424	Dynein heavy chain (1);	0.056597	0.64402	D	0.000002	T	0.26593	0.0650	M	0.88031	2.925	0.80722	D	1	D;D	0.56746	0.972;0.977	D;D	0.67231	0.917;0.95	T	0.02533	-1.1145	10	0.87932	D	0	.	15.2412	0.73471	0.0686:0.0:0.9313:0.0	.	4003;4039	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	Y	4244;4039;4003	ENSP00000333363:D4244Y;ENSP00000352312:D4039Y;ENSP00000402294:D4003Y	ENSP00000333363:D4244Y	D	+	1	0	DNAH8	39050215	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.693000	0.84214	2.764000	0.94973	0.655000	0.94253	GAC			0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000043574.1		NM_001206927		T	38942237	G	T	38942237	3	4	96	1	0	0	0	0	1	0	0	0	4612	1174	41	3	12437	3	DNAH8	6	38942237	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1946491	38942237	132172830	221	7006											
TAF8	129685	broad.mit.edu	37	chr6	42025143	42025143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccggtgaccaatcaGccagtgacccccaaggccct	9	5	10	17	1	1	2	1	2	0	0	2	2	2	2	6	2	2	2	6	2	2	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:42025143G>T	ENST00000372977.3	+	5	399	c.381G>T	c.(379-381)caG>caT	p.Q127H	TAF8_ENST00000465926.1_Missense_Mutation_p.Q64H|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000372982.4_Missense_Mutation_p.Q127H|TAF8_ENST00000372978.3_Missense_Mutation_p.Q127H|TAF8_ENST00000456846.2_Missense_Mutation_p.Q127H|TAF8_ENST00000494547.1_Missense_Mutation_p.Q127H	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	127					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			TGACCAATCAGCCAGTGACCC	0.567																																					p.Q127H													.	TAF8	25		0			c.G381T												81	90	87					6																	42025143		1990	4159	6149	SO:0001583	missense	129685	exon5			CAATCAGCCAGTG	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa", "taube nuss homolog (mouse)"	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.381G>T	6.37:g.42025143G>T	ENSP00000362068:p.Gln127His		115	0	0		187	0.02	3	NM_138572	48	0	0	Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	37	CCDS43462.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142385	0.37825	.	.	ENSG00000137413	ENST00000372978;ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000465926	.	.	.	5.86	3.95	0.45737	.	0.390914	0.31797	N	0.007044	T	0.26159	0.0638	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.12013	0.001;0.003;0.005;0.002	B;B;B;B	0.16722	0.002;0.003;0.016;0.001	T	0.06445	-1.0826	9	0.15499	T	0.54	-21.6071	8.6273	0.33897	0.0717:0.0:0.6736:0.2547	.	64;127;127;127	B4DZU5;Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8	.;.;.;TAF8_HUMAN	H	127;127;127;127;127;64	.	ENSP00000362068:Q127H	Q	+	3	2	TAF8	42133121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.595000	0.24029	2.776000	0.95493	0.655000	0.94253	CAG			0.567	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000357901.1		NM_138572		T	42025143	G	T	42025143	3	4	96	1	0	0	0	0	1	0	0	0	15557	962	34	2	399	2	TAF8	6	42025143	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3082906	42025143	129089924	222	7007											
XPO5	57510	broad.mit.edu	37	chr6	43519113	43519113	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacattagtaaggacgcaGgacaggatgaggggatcctt	13	7	15	6	1	0	2	0	1	0	1	1	7	1	6	1	5	0	2	1	5	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:43519113G>T	ENST00000265351.7	-	15	1860	c.1650C>A	c.(1648-1650)tcC>tcA	p.S550S	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	550	Necessary for interaction with ILF3.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TAAGGACGCAGGACAGGATGA	0.438																																					p.S550S													.	XPO5	79		0			c.C1650A												134	134	134					6																	43519113		1917	4134	6051	SO:0001819	synonymous_variant	57510	exon15			GACGCAGGACAGG	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1650C>A	6.37:g.43519113G>T			224	0	0		325	0.01	3	NM_020750	63	0	0	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1																																																																																					0.438	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040657.2		NM_020750		T	43519113	G	T	43519113	2	4	96	1	0	0	0	0	0	0	0	1	17471	987	35	3		3	XPO5	6	43519113	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1493970	43519113	127595954	223	7008											
TCTE1	202500	broad.mit.edu	37	chr6	44248061	44248061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgggccacatctgacaGgcgcaagtcaaattccagga	11	8	10	12	1	2	1	1	1	1	0	4	2	4	2	3	3	0	1	3	3	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:44248061G>T	ENST00000371505.4	-	5	1485	c.1363C>A	c.(1363-1365)Ctg>Atg	p.L455M	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.L152M|TCTE1_ENST00000371504.1_Missense_Mutation_p.L152M|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	455										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)			ACATCTGACAGGCGCAAGTCA	0.582																																					p.L455M													.	TCTE1	77		0			c.C1363A												93	90	91					6																	44248061		2203	4300	6503	SO:0001583	missense	202500	exon5			CTGACAGGCGCAA	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.1363C>A	6.37:g.44248061G>T	ENSP00000360560:p.Leu455Met		178	0	0		270	0.01	3	NM_182539	1	0	0	B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910433	0.33721	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.53857	0.6;0.64;0.64	4.45	2.65	0.31530	.	0.000000	0.64402	D	0.000006	T	0.49932	0.1586	L	0.59436	1.845	0.20403	N	0.999903	D	0.89917	1.0	D	0.74023	0.982	T	0.40289	-0.9571	10	0.42905	T	0.14	-15.5112	9.3564	0.38168	0.2412:0.0:0.7588:0.0	.	455	Q5JU00	TCTE1_HUMAN	M	455;152;152	ENSP00000360560:L455M;ENSP00000360558:L152M;ENSP00000360559:L152M	ENSP00000360558:L152M	L	-	1	2	TCTE1	44356039	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.292000	0.43549	0.578000	0.29487	0.563000	0.77884	CTG			0.582	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040736.1		NM_182539		T	44248061	G	T	44248061	3	4	96	1	0	0	0	0	1	0	0	0	15740	991	35	3	146	3	TCTE1	6	44248061	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	728948	44248061	126867006	224	7009											
GPR115	221393	broad.mit.edu	37	chr6	47678470	47678470	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctttttttctttataGagaaatgcgaaggaccttgt	9	19	7	6	1	2	1	0	0	2	1	3	4	2	2	1	1	1	0	1	1	4	8			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:47678470G>T	ENST00000283303.2	+	4	406		c.e4-1		GPR115_ENST00000371220.1_Splice_Site|GPR115_ENST00000327753.3_Splice_Site	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115						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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTCTTTATAGAGAAATGCGA	0.383																																					.	GBM(22;431 510 9010 26644 32828)												.	GPR115	140		0			c.149-1G>T												54	59	57					6																	47678470		2203	4300	6503	SO:0001630	splice_region_variant	221393	exon4			TTTATAGAGAAAT	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.149-1G>T	6.37:g.47678470G>T			153	0.0065359477	1		241	0.02	4	NM_153838	0		0	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Splice_Site	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411878	0.25465	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4919	0.75611	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR115	47786429	1.000000	0.71417	0.989000	0.46669	0.035000	0.12851	4.394000	0.59671	2.803000	0.96430	0.655000	0.94253	.			0.383	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040819.2		NM_153838	Intron	T	47678470	G	T	47678470	5	4	96	1	0	0	0	0	0	0	1	0	6646	956	33	3	158	3	GPR115	6	47678470	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3430409	47678470	123436597	225	7010											
COL21A1	81578	broad.mit.edu	37	chr6	55989038	55989038	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttctatcaaactcacaGcaggtccagggaggccaggg	10	10	11	10	0	3	0	2	0	1	0	4	1	4	1	2	4	2	1	2	4	2	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:55989038G>T	ENST00000244728.5	-	15	2100	c.1703C>A	c.(1702-1704)gCt>gAt	p.A568D	COL21A1_ENST00000535941.1_Splice_Site_p.A568D|COL21A1_ENST00000370819.1_Splice_Site_p.A565D	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	568	Collagen-like 3.				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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAAACTCACAGCAGGTCCAGG	0.328																																					p.A568D													.	COL21A1	201		0			c.C1703A												39	37	38					6																	55989038		1838	4090	5928	SO:0001630	splice_region_variant	0	exon15			CTCACAGCAGGTC	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1704+1C>A	6.37:g.55989038G>T			556	0	0		737	0.01	4	NM_030820	5	0	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703192	0.30232	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.93488	-3.23;-3.23;-3.23	4.36	4.36	0.52297	.	0.644940	0.13986	N	0.349140	T	0.77391	0.4123	N	0.16567	0.415	0.80722	D	1	P	0.38677	0.642	B	0.31812	0.136	T	0.76168	-0.3058	10	0.15499	T	0.54	.	12.7354	0.57220	0.0:0.0:1.0:0.0	.	568	Q96P44	COLA1_HUMAN	D	568;565;568;565	ENSP00000244728:A568D;ENSP00000359855:A565D;ENSP00000444384:A568D	ENSP00000244728:A568D	A	-	2	0	COL21A1	56096997	0.999000	0.42202	0.997000	0.53966	0.987000	0.75469	3.433000	0.52834	2.106000	0.64143	0.491000	0.48974	GCT			0.328	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041004.2			Missense_Mutation	T	55989038	G	T	55989038	5	4	96	1	0	0	0	0	0	0	1	0	3682	985	34	2	1234	2	COL21A1	6	55989038	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8310568	55989038	115126029	226	7011											
EYS	346007	broad.mit.edu	37	chr6	66053998	66053998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatcgttcacataggttGcatcttcagtgcagtttgca	9	13	10	9	1	3	0	2	0	1	0	4	1	3	1	0	2	3	6	0	2	1	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:66053998G>A	ENST00000370621.3	-	10	2058	c.1532C>T	c.(1531-1533)gCa>gTa	p.A511V	EYS_ENST00000503581.1_Missense_Mutation_p.A511V|EYS_ENST00000393380.2_Missense_Mutation_p.A511V|EYS_ENST00000370616.2_Missense_Mutation_p.A511V|EYS_ENST00000370618.3_Missense_Mutation_p.A511V|EYS_ENST00000342421.5_Missense_Mutation_p.A511V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	511					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A511V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CACATAGGTTGCATCTTCAGT	0.353																																					p.A511V													EYS_ENST00000370621,NS,carcinoma,0,2	EYS	527	2	2	Substitution - Missense(2)	kidney(2)	c.C1532T												97	99	98					6																	66053998		2203	4300	6503	SO:0001583	missense	346007	exon10			TAGGTTGCATCTT		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1532C>T	6.37:g.66053998G>A	ENSP00000359655:p.Ala511Val		295	0.0033898305	1		236	0.02	4	NM_001142801	0		0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	g	8.697	0.908815	0.17833	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	4.11	1.1	0.20463	.	.	.	.	.	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B;P;P	0.46784	0.386;0.884;0.816	B;B;B	0.40375	0.125;0.327;0.175	T	0.24012	-1.0172	9	0.62326	D	0.03	.	2.953	0.05868	0.1058:0.174:0.5416:0.1786	.	511;511;511	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	511	ENSP00000424243:A511V;ENSP00000359655:A511V;ENSP00000359650:A511V;ENSP00000377042:A511V;ENSP00000341818:A511V;ENSP00000359652:A511V	ENSP00000341818:A511V	A	-	2	0	EYS	66110719	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.380000	0.20602	0.157000	0.19338	0.591000	0.81541	GCA			0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351351.3		XM_294050		A	66053998	G	A	66053998	3	1	96	1	0	0	0	0	1	0	0	0	5339	1319	46	2	8000	2	EYS	6	66053998	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	10064960	66053998	105061069	227	7012											
DDX43	55510	mdanderson.org	37	chr6	74124407	74124407	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagggcgcacgggaagagcAgggtaagtaagcttagtcca	13	6	15	7	2	0	1	0	0	0	1	1	2	1	2	1	3	2	5	1	3	5	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:74124407A>G	ENST00000370336.4	+	14	1901	c.1743A>G	c.(1741-1743)gcA>gcG	p.A581A	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	581	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGGGAAGAGCAGGGTAAGTAA	0.413																																					p.A581A													.	.			0			c.A1743G												112	101	105					6																	74124407		2203	4300	6503	SO:0001819	synonymous_variant	55510	exon14			AAGAGCAGGGTAA		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1743A>G	6.37:g.74124407A>G			63	0	0		58	0.05	3	NM_018665	18	0	0	B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	CCDS4977.1																																																																																					0.413	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041219.3		NM_018665		G	74124407	A	G	74124407	2	3	96	1	0	0	0	0	0	0	0	1	4365	175	7	4		4	DDX43	6	74124407	Silent	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	8070409	74124407	96990660	228	7013											
IBTK	25998	broad.mit.edu	37	chr6	82921250	82921251	+	Frame_Shift_Ins	INS	-	-	C																															tatgacaaggaaattcctttINSccatccactgatttcatggt																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:82921250_82921251insC	ENST00000306270.7	-	14	2879_2880	c.2330_2331insG	c.(2329-2331)ggafs	p.G777fs	IBTK_ENST00000510291.1_Frame_Shift_Ins_p.G777fs|IBTK_ENST00000503631.1_Frame_Shift_Ins_p.G576fs|RNU6-130P_ENST00000411112.1_RNA	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	777	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GAAATTCCTTTCCATCCACTGA	0.332																																					p.G777fs													.	IBTK	128		0			c.2331_2332insG																																									SO:0001589	frameshift_variant	25998	exon14			TTCCTTTCCATCC	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2331dupG	6.37:g.82921252_82921252dupC	ENSP00000305721:p.Gly777fs		528	0	0		462	0.02	7	NM_015525	3	0	0	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Frame_Shift_Ins	INS	ENST00000306270.7	37	CCDS34490.1																																																																																					0.332	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041337.2		NM_015525		C	82921251	-	C	82921250	7	5	96	1	0	1	1	0	0	0	0	0	7491	1770	62	0	1794	0	IBTK	6	82921250	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	8796843	82921250	88193817	229	7014											
ANKRD6	22881	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	90276740	90276740	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcactttcagagcgccttctCgtagctgcgtacaaaggcca	9	9	10	13	3	2	1	1	0	1	1	3	1	2	1	2	1	4	4	2	1	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:90276740C>G	ENST00000522441.1	+	2	686	c.45C>G	c.(43-45)ctC>ctG	p.L15L	ANKRD6_ENST00000339746.4_Silent_p.L15L|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000447838.2_Silent_p.L15L|ANKRD6_ENST00000369408.5_Silent_p.L15L|ANKRD6_ENST00000520793.1_Silent_p.L15L|ANKRD6_ENST00000520886.2_Intron|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000485637.1_Silent_p.L15L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	15					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGCGCCTTCTCGTAGCTGCGT	0.493																																					p.L15L													.	ANKRD6	51		0			c.C45G												54	54	54					6																	90276740		1971	4160	6131	SO:0001819	synonymous_variant	22881	exon2			CCTTCTCGTAGCT	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.45C>G	6.37:g.90276740C>G			310	0.0129032258	4		521	0.09	47	NM_001242809	1	0	0	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	CCDS56441.1																																																																																					0.493	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000376594.1				G	90276740	C	G	90276740	2	3	96	1	0	0	0	0	0	0	0	1	685	871	31	5		5	ANKRD6	6	90276740	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	7355490	90276740	80838327	230	7015											
AIM1	202	broad.mit.edu	37	chr6	107009345	107009345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggccgatgatcagatttgGatctatcaagaaggatgtat	12	11	13	5	1	3	3	2	1	1	2	3	6	3	5	1	4	0	1	1	4	4	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:107009345G>T	ENST00000369066.3	+	18	5371	c.4884G>T	c.(4882-4884)tgG>tgT	p.W1628C	AIM1_ENST00000535438.1_Missense_Mutation_p.W447C	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)		ATCAGATTTGGATCTATCAAG	0.463																																					p.W1628C													.	AIM1	161		0			c.G4884T												106	108	107					6																	107009345		2203	4300	6503	SO:0001583	missense	202	exon18			GATTTGGATCTAT	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.4884G>T	6.37:g.107009345G>T	ENSP00000358062:p.Trp1628Cys		179	0.0167597765	3		153	0.03	4	NM_001624	12	0	0	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336491	0.81801	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	T;T	0.41758	0.99;0.99	5.68	5.68	0.88126	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64993	-0.6276	10	0.87932	D	0	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	447;1628	B4DU04;Q9Y4K1	.;AIM1_HUMAN	C	1628;447	ENSP00000358062:W1628C;ENSP00000439183:W447C	ENSP00000358062:W1628C	W	+	3	0	AIM1	107116038	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	8.707000	0.91367	2.689000	0.91719	0.655000	0.94253	TGG			0.463	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041669.1				T	107009345	G	T	107009345	3	4	96	1	0	0	0	0	1	0	0	0	430	1183	41	3	4954	3	AIM1	6	107009345	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	16732605	107009345	64105722	231	7016											
GPR6	2830	mdanderson.org	37	chr6	110300658	110300658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgtgctggtaggcagcctgGccaccgctgacctgttggcg	4	9	15	13	3	0	1	0	1	0	0	1	1	0	1	4	4	2	5	4	4	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:110300658G>A	ENST00000275169.3	+	1	361	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	GPR6_ENST00000414000.2_Missense_Mutation_p.A130T	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	115					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		AGGCAGCCTGGCCACCGCTGA	0.637																																					p.A115T													.	.			0			c.G343A												100	89	92					6																	110300658		2203	4300	6503	SO:0001583	missense	2830	exon1			AGCCTGGCCACCG		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.343G>A	6.37:g.110300658G>A	ENSP00000275169:p.Ala115Thr		44	0	0		48	0.06	3	NM_005284	2	0	0	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174842	0.78564	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.56103	0.48;0.48	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.996	T	0.73987	-0.3809	10	0.66056	D	0.02	.	13.2187	0.59875	0.0798:0.0:0.9202:0.0	.	130;115	B4DHS9;P46095	.;GPR6_HUMAN	T	115;130;115	ENSP00000406986:A130T;ENSP00000275169:A115T	ENSP00000275169:A115T	A	+	1	0	GPR6	110407351	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.823000	0.86660	2.434000	0.82447	0.462000	0.41574	GCC			0.637	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041774.1				A	110300658	G	A	110300658	3	1	96	1	0	0	0	0	1	0	0	0	6715	1203	42	2	345	2	GPR6	6	110300658	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3291313	110300658	60814409	232	7017											
SLC35F1	222553	broad.mit.edu	37	chr6	118596709	118596709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaagaatacatcatccGaactctgagccgagtggaat	13	8	11	9	2	2	2	1	1	1	1	3	6	3	4	2	2	3	0	2	2	5	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:118596709G>T	ENST00000360388.4	+	5	926	c.725G>T	c.(724-726)cGa>cTa	p.R242L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	242					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R242Q(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TACATCATCCGAACTCTGAGC	0.423																																					p.R242L													SLC35F1,rectum,carcinoma,+1,2	SLC35F1	65	2	1	Substitution - Missense(1)	large_intestine(1)	c.G725T												113	111	112					6																	118596709		2203	4300	6503	SO:0001583	missense	222553	exon5			TCATCCGAACTCT	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.725G>T	6.37:g.118596709G>T	ENSP00000353557:p.Arg242Leu		238	0	0		233	0.03	6	NM_001029858	2	0	0	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641442	0.67244	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.07	5.07	0.68467	.	0.144445	0.44285	D	0.000480	T	0.52917	0.1764	L	0.31578	0.945	0.53688	D	0.999973	P	0.47545	0.897	P	0.53593	0.73	T	0.55860	-0.8074	9	0.56958	D	0.05	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	242	Q5T1Q4	S35F1_HUMAN	L	242	.	ENSP00000353557:R242L	R	+	2	0	SLC35F1	118703402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.635000	0.74295	2.780000	0.95670	0.655000	0.94253	CGA			0.423	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041991.2		XM_167044		T	118596709	G	T	118596709	3	4	96	1	0	0	0	0	1	0	0	0	14611	1058	37	1	743	1	SLC35F1	6	118596709	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8296051	118596709	52518358	233	7018											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239750	135239750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacattgctggaccacaCggtagccgccagcccatact	9	6	8	18	2	0	0	0	0	0	0	0	1	0	1	6	2	4	2	6	2	2	3	rs148331222		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:135239750C>T	ENST00000265605.2	-	7	1335	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.V373M|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.V369M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	423					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CTGGACCACACGGTAGCCGCC	0.557																																					p.V423M													.	ALDH8A1	68		0			c.G1267A							C	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	129	87	101		1117,1267,1105	6.1	1	6	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense,missense	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	373/438,423/488,369/434	135239750	1,13005	2203	4300	6503	SO:0001583	missense	64577	exon7			ACCACACGGTAGC	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1267G>A	6.37:g.135239750C>T	ENSP00000265605:p.Val423Met		249	0	0		227	0.03	6	NM_022568	0		0	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658889	0.67586	2.27E-4	0.0	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	D;T;D;D	0.83163	-1.69;1.15;-1.69;-1.69	6.07	6.07	0.98685	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050023	0.85682	D	0.000000	D	0.93294	0.7863	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.975;0.986	D	0.93614	0.6941	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	373;369;423	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	423;369;373;108	ENSP00000265605:V423M;ENSP00000356819:V369M;ENSP00000356821:V373M;ENSP00000437161:V108M	ENSP00000265605:V423M	V	-	1	0	ALDH8A1	135281443	1.000000	0.71417	0.960000	0.40013	0.046000	0.14306	4.743000	0.62110	2.884000	0.98904	0.655000	0.94253	GTG			0.557	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042334.2				T	135239750	C	T	135239750	3	4	96	1	0	0	0	0	1	0	0	0	505	536	19	1	200	1	ALDH8A1	6	135239750	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	16643041	135239750	35875317	234	7019											
FUCA2	2519	broad.mit.edu	37	chr6	143825112	143825112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgatccggtgctcctccGtcaccatccgaccacagaac	9	9	7	16	3	1	2	1	1	0	1	5	3	5	2	6	1	2	1	6	1	2	2	rs377166178		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:143825112G>A	ENST00000002165.6	-	3	745	c.690C>T	c.(688-690)gaC>gaT	p.D230D	RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	230					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GTGCTCCTCCGTCACCATCCG	0.463													g|||	1	0.000199681	0	0	5008	,	,		18397	0		0	False		,,,				2504	0.001				p.D230D													.	FUCA2	28		0			c.C690T							G		0,4406		0,0,2203	84	75	78		690	-11.2	0	6		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FUCA2	NM_032020.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		230/468	143825112	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2519	exon3			TCCTCCGTCACCA	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.690C>T	6.37:g.143825112G>A			141	0	0		154	0.03	4	NM_032020	146	0	0	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Silent	SNP	ENST00000002165.6	37	CCDS5200.1																																																																																					0.463	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042521.2		NM_032020		A	143825112	G	A	143825112	2	1	96	1	0	0	0	0	0	0	0	1	6108	1136	40	1		1	FUCA2	6	143825112	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8585362	143825112	27289955	235	7020											
SYTL3	94120	broad.mit.edu	37	chr6	159086520	159086520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgcgcgctgccagcaGgtgctggggttcctgctgca	3	10	16	12	2	0	0	0	0	0	0	1	0	1	0	2	3	7	7	2	3	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:159086520G>T	ENST00000297239.9	+	4	398	c.204G>T	c.(202-204)caG>caT	p.Q68H	SYTL3_ENST00000360448.3_Missense_Mutation_p.Q68H|SYTL3_ENST00000367081.3_5'UTR			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	68	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)		GCTGCCAGCAGGTGCTGGGGT	0.647																																					p.Q68H													.	SYTL3	49		0			c.G204T												32	29	30					6																	159086520		2203	4299	6502	SO:0001583	missense	94120	exon6			CCAGCAGGTGCTG	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.204G>T	6.37:g.159086520G>T	ENSP00000297239:p.Gln68His		169	0	0		135	0.02	3	NM_001242384	0		0	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309612	0.23821	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.78003	-1.14;-1.14	5.8	1.89	0.25635	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.631693	0.16760	N	0.200651	T	0.68622	0.3021	M	0.76574	2.34	0.09310	N	0.999997	P;P	0.50710	0.833;0.938	B;P	0.47705	0.352;0.555	T	0.62849	-0.6767	10	0.66056	D	0.02	.	9.9044	0.41366	0.1207:0.4915:0.3878:0.0	.	68;68	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	H	68	ENSP00000353631:Q68H;ENSP00000297239:Q68H	ENSP00000297239:Q68H	Q	+	3	2	SYTL3	159006508	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.447000	0.06828	0.056000	0.16144	-0.311000	0.09066	CAG			0.647	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042876.1				T	159086520	G	T	159086520	3	4	96	1	0	0	0	0	1	0	0	0	15507	991	35	3	210	3	SYTL3	6	159086520	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	15261408	159086520	12028547	236	7021											
SLC22A2	6582	broad.mit.edu	37	chr6	160679540	160679540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacactgtcttggggaggCttcgcccgcaggtcctgggc	4	9	14	14	2	1	0	0	0	1	0	3	1	2	1	3	5	1	2	3	5	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr6:160679540C>A	ENST00000366953.3	-	1	508	c.250G>T	c.(250-252)Gcc>Tcc	p.A84S	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.A63S	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	84					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)	CTTGGGGAGGCTTCGCCCGCA	0.677																																					p.A84S													.	SLC22A2	78		0			c.G250T												55	60	58					6																	160679540		2203	4300	6503	SO:0001583	missense	6582	exon1			GGGAGGCTTCGCC	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.250G>T	6.37:g.160679540C>A	ENSP00000355920:p.Ala84Ser		116	0.0086206897	1		97	0.05	5	NM_003058	0		0	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	4.537	0.099753	0.08681	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.72282	-0.64;-0.6	5.02	-0.519	0.11939	Major facilitator superfamily domain (1);	0.819068	0.11195	N	0.589470	T	0.31949	0.0813	L	0.47016	1.485	0.09310	N	1	B;B;B	0.31274	0.079;0.057;0.317	B;B;B	0.34180	0.177;0.142;0.124	T	0.24941	-1.0146	10	0.09590	T	0.72	.	2.4803	0.04586	0.125:0.2987:0.371:0.2053	.	84;84;84	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	S	84;63	ENSP00000355920:A84S;ENSP00000355919:A63S	ENSP00000355919:A63S	A	-	1	0	SLC22A2	160599530	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.737000	0.04877	-0.003000	0.14444	0.655000	0.94253	GCC			0.677	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042943.1		NM_003058		A	160679540	C	A	160679540	3	1	96	1	0	0	0	0	1	0	0	0	14473	797	28	2	1461	2	SLC22A2	6	160679540	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1593020	160679540	10435527	237	7022											
PMS2	5395	broad.mit.edu	37	chr7	6026590	6026590	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctacatcaacctgagaGgctgacatgtcctgagtatt	12	10	9	10	0	1	3	1	3	0	1	2	4	2	3	2	1	3	3	2	1	3	3	rs376046767		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:6026590G>T	ENST00000265849.7	-	11	1911	c.1806C>A	c.(1804-1806)gcC>gcA	p.A602A	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Silent_p.A496A|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	602					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAACCTGAGAGGCTGACATGT	0.363			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.A602A			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88		0			c.C1806A												99	102	101					7																	6026590		2203	4299	6502	SO:0001819	synonymous_variant	5395	exon11	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	CTGAGAGGCTGAC		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1806C>A	7.37:g.6026590G>T			197	0	0		221	0.01	3	NM_000535	13	0	0	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																					0.363	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207353.3		NM_000535		T	6026590	G	T	6026590	2	4	96	1	0	0	0	0	0	0	0	1	12160	987	35	3		3	PMS2	7	6026590	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		6026590	153112073	238	7023											
KLHL7	55975	broad.mit.edu	37	chr7	23213659	23213659	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaatgtggaatattaCgatattaagttgaacgaatg	15	12	10	4	2	0	1	0	1	0	0	0	5	0	3	0	2	2	1	0	2	8	5	rs147111813	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:23213659C>T	ENST00000339077.5	+	11	1746	c.1503C>T	c.(1501-1503)taC>taT	p.Y501Y	KLHL7_ENST00000539124.1_Silent_p.Y425Y|KLHL7_ENST00000545443.1_Silent_p.Y479Y|KLHL7_ENST00000542558.1_Silent_p.Y276Y|KLHL7_ENST00000409689.1_Silent_p.Y453Y|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000322231.7_Silent_p.Y479Y	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	501					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGAATATTACGATATTAAGT	0.353																																					p.Y501Y													KLHL7_ENST00000339077,NS,carcinoma,0,2	KLHL7	102	2	0			c.C1503T							C	,	1,4405	2.1+/-5.4	0,1,2202	186	167	173		1503,1359	-5.6	0.9	7	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KLHL7	NM_001031710.2,NM_018846.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	501/587,453/539	23213659	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55975	exon11			ATATTACGATATT		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1503C>T	7.37:g.23213659C>T			221	0	0		281	0.02	5	NM_001031710	21	0	0	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	CCDS34609.1																																																																																					0.353	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326860.3		NM_018846		T	23213659	C	T	23213659	2	4	96	1	0	0	0	0	0	0	0	1	8409	547	19	1		1	KLHL7	7	23213659	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	17187069	23213659	135925004	239	7024											
C7orf46	340277	broad.mit.edu	37	chr7	23731023	23731023	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaggttccaagtgttcaGgattccatagctgcttcact	9	14	8	10	0	3	0	3	0	0	0	5	1	5	1	2	2	2	4	2	2	2	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:23731023G>T	ENST00000344962.4	+	4	534	c.445G>T	c.(445-447)Gga>Tga	p.G149*	FAM221A_ENST00000409994.3_Nonsense_Mutation_p.G91*|FAM221A_ENST00000409192.3_Nonsense_Mutation_p.G149*|FAM221A_ENST00000409653.1_Nonsense_Mutation_p.G91*	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	149																	CAAGTGTTCAGGATTCCATAG	0.433																																					p.G149X													.	.			0			c.G445T												143	131	135					7																	23731023		2203	4300	6503	SO:0001587	stop_gained	340277	exon4			TGTTCAGGATTCC		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 46"	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.445G>T	7.37:g.23731023G>T	ENSP00000342576:p.Gly149*		185	0.0054054054	1		277	0.01	3	NM_199136	44	0	0	Q05CG4|Q4G0Q7|Q6P519	Nonsense_Mutation	SNP	ENST00000344962.4	37	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849426	0.91277	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	.	.	.	5.55	5.55	0.83447	.	0.106872	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-20.8511	19.519	0.95177	0.0:0.0:1.0:0.0	.	.	.	.	X	149;149;91;91	.	ENSP00000342576:G149X	G	+	1	0	C7orf46	23697548	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.174000	0.94824	2.623000	0.88846	0.467000	0.42956	GGA			0.433	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250261.1		NM_199136		T	23731023	G	T	23731023	4	4	96	1	0	0	0	0	0	1	0	0	2398	1001	35	3	459	3	C7orf46	7	23731023	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	517364	23731023	135407640	240	7025											
BBS9	27241	broad.mit.edu	37	chr7	33313525	33313525	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacactgaagtgggccaccCaacttccccacattcctgta	10	9	7	15	0	0	2	0	2	0	0	2	2	2	2	5	1	1	1	5	1	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:33313525C>T	ENST00000242067.6	+	9	1494	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	BBS9_ENST00000354265.4_Nonsense_Mutation_p.Q325*|BBS9_ENST00000396127.2_Nonsense_Mutation_p.Q325*|BBS9_ENST00000355070.2_Nonsense_Mutation_p.Q325*|BBS9_ENST00000350941.3_Nonsense_Mutation_p.Q325*|BBS9_ENST00000425508.2_Nonsense_Mutation_p.Q280*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	325					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTGGGCCACCCAACTTCCCCA	0.348									Bardet-Biedl syndrome																												p.Q325X													.	BBS9	194		0			c.C973T												76	72	73					7																	33313525		2203	4300	6503	SO:0001587	stop_gained	27241	exon9	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	GCCACCCAACTTC		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.973C>T	7.37:g.33313525C>T	ENSP00000242067:p.Gln325*		135	0	0		171	0.03	5	NM_014451	9	0	0	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Nonsense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	41	9.130390	0.99075	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000537775	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-13.2306	19.5492	0.95311	0.0:1.0:0.0:0.0	.	.	.	.	X	325;325;325;325;325;325;325;280;203	.	ENSP00000242067:Q325X	Q	+	1	0	BBS9	33280050	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	7.078000	0.76821	2.636000	0.89361	0.484000	0.47621	CAA			0.348	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000329064.1				T	33313525	C	T	33313525	4	4	96	1	0	0	0	0	0	1	0	0	1342	595	21	3	1003	3	BBS9	7	33313525	Nonsense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	9582502	33313525	125825138	241	7026											
ELMO1	9844	broad.mit.edu	37	chr7	37264492	37264492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcatgcttacccttgcagGtgtggaatgagctggccgat	7	11	14	9	1	0	1	0	1	0	0	0	3	0	2	2	4	4	4	2	4	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:37264492G>T	ENST00000310758.4	-	9	1340	c.693C>A	c.(691-693)caC>caA	p.H231Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.H231Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.H231Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	231					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						ACCCTTGCAGGTGTGGAATGA	0.512																																					p.H231Q													.	ELMO1	141		0			c.C693A												129	115	119					7																	37264492		2203	4300	6503	SO:0001583	missense	9844	exon9			TTGCAGGTGTGGA	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.693C>A	7.37:g.37264492G>T	ENSP00000312185:p.His231Gln		98	0.0102040816	1		102	0.03	3	NM_014800	12	0	0	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738683	0.69304	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.50813	0.73;0.73;0.73	5.4	-1.42	0.08913	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.69823	2.125	0.80722	D	1	P	0.37573	0.6	P	0.53224	0.721	T	0.53415	-0.8442	10	0.34782	T	0.22	.	9.9691	0.41743	0.6511:0.0:0.3489:0.0	.	231	Q92556	ELMO1_HUMAN	Q	231;135;231;231	ENSP00000312185:H231Q;ENSP00000406952:H231Q;ENSP00000394458:H231Q	ENSP00000312185:H231Q	H	-	3	2	ELMO1	37231017	0.930000	0.31532	0.994000	0.49952	0.977000	0.68977	0.269000	0.18589	-0.120000	0.11809	-0.290000	0.09829	CAC			0.512	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219830.4		NM_130442		T	37264492	G	T	37264492	3	4	96	1	0	0	0	0	1	0	0	0	5072	1252	44	3	1546	3	ELMO1	7	37264492	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3950967	37264492	121874171	242	7027											
STARD3NL	83930	broad.mit.edu	37	chr7	38254698	38254698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagactgcgccattggtggGcaatagcggtgagtatgccc	8	8	15	10	2	0	2	0	1	0	1	0	2	0	2	2	3	3	3	2	3	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:38254698G>T	ENST00000009041.7	+	4	630	c.373G>T	c.(373-375)Gca>Tca	p.A125S	STARD3NL_ENST00000396013.1_Missense_Mutation_p.A125S|STARD3NL_ENST00000544203.1_Missense_Mutation_p.A118S|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A125S	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	125	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CCATTGGTGGGCAATAGCGGT	0.478																																					p.A125S													.	STARD3NL	35		0			c.G373T												116	103	107					7																	38254698		2203	4300	6503	SO:0001583	missense	0	exon4			TGGTGGGCAATAG	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.373G>T	7.37:g.38254698G>T	ENSP00000009041:p.Ala125Ser		88	0	0		105	0.04	4	NM_032016	92	0	0	A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124886	0.77436	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.94	5.94	0.96194	MENTAL domain (2);	0.094278	0.64402	D	0.000001	T	0.51839	0.1698	L	0.54323	1.7	0.58432	D	0.999999	B;B	0.21225	0.053;0.053	B;B	0.38655	0.278;0.115	T	0.48468	-0.9033	10	0.56958	D	0.05	-8.3648	19.1527	0.93495	0.0:0.0:1.0:0.0	.	125;125	C9JKL2;O95772	.;MENTO_HUMAN	S	125;118;125;125;125;125;125	ENSP00000009041:A125S;ENSP00000439436:A118S;ENSP00000394000:A125S;ENSP00000379334:A125S;ENSP00000411933:A125S;ENSP00000395455:A125S;ENSP00000402028:A125S	ENSP00000009041:A125S	A	+	1	0	STARD3NL	38221223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.466000	0.97665	2.823000	0.97156	0.643000	0.83706	GCA			0.478	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226929.2				T	38254698	G	T	38254698	3	4	96	1	0	0	0	0	1	0	0	0	15281	1203	42	2	383	2	STARD3NL	7	38254698	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	990206	38254698	120883965	243	7028											
POU6F2	11281	broad.mit.edu	37	chr7	39500265	39500265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagactcaggtgggacagGctctcagtgctacagagggc	9	6	14	12	0	2	2	2	0	1	2	3	3	2	3	1	4	2	2	1	4	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:39500265G>T	ENST00000403058.1	+	10	1676	c.1522G>T	c.(1522-1524)Gct>Tct	p.A508S	POU6F2_ENST00000518318.2_Missense_Mutation_p.A508S|POU6F2_ENST00000559001.1_Missense_Mutation_p.A453S	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	508	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A508S(3)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTGGGACAGGCTCTCAGTGC	0.592																																					p.A508S													POU6F2,NS,carcinoma,0,3	POU6F2	117	3	3	Substitution - Missense(3)	endometrium(2)|kidney(1)	c.G1522T												33	29	30					7																	39500265		2203	4300	6503	SO:0001583	missense	11281	exon10			GGACAGGCTCTCA	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1522G>T	7.37:g.39500265G>T	ENSP00000384004:p.Ala508Ser		73	0	0		121	0.07	8	NM_007252	0		0	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698778	0.68501	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.95342	-2.0;-3.68	5.48	5.48	0.80851	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	M	0.65320	2	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.97228	0.9882	10	0.87932	D	0	.	19.3555	0.94410	0.0:0.0:1.0:0.0	.	508	P78424	PO6F2_HUMAN	S	508	ENSP00000384004:A508S;ENSP00000430514:A508S	ENSP00000384004:A508S	A	+	1	0	POU6F2	39466790	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.773000	0.98989	2.572000	0.86782	0.511000	0.50034	GCT			0.592	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000320146.3		NM_007252		T	39500265	G	T	39500265	3	4	96	1	0	0	0	0	1	0	0	0	12302	1203	42	2	1556	2	POU6F2	7	39500265	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1245567	39500265	119638398	244	7029											
STYXL1	51657	broad.mit.edu	37	chr7	75651171	75651171	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgttgcataaaacccacctTtgccatcaccatcagagtct	11	11	5	14	0	3	1	2	0	1	1	3	1	3	1	4	0	3	2	4	0	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:75651171T>A	ENST00000248600.1	-	4	647	c.305A>T	c.(304-306)aAa>aTa	p.K102I	STYXL1_ENST00000359697.3_Missense_Mutation_p.K102I|STYXL1_ENST00000431581.1_Missense_Mutation_p.K102I|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000360591.3_Missense_Mutation_p.K102I|STYXL1_ENST00000451157.1_Missense_Mutation_p.K102I|STYXL1_ENST00000460184.2_5'UTR	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	102	Rhodanese.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						AAACCCACCTTTGCCATCACC	0.428																																					p.K102I													.	STYXL1	35		0			c.A305T												244	234	237					7																	75651171		2203	4300	6503	SO:0001583	missense	51657	exon4			CCACCTTTGCCAT	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.305A>T	7.37:g.75651171T>A	ENSP00000248600:p.Lys102Ile		75	0	0		75	0.04	3	NM_016086	72	0	0	Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273548	0.23221	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000404050;ENST00000360591;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T	0.46451	1.71;1.71;0.87;1.71;1.71	3.86	-0.365	0.12549	Rhodanese-like (4);	4.879550	0.00751	U	0.001072	T	0.35508	0.0934	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18968	0.014;0.032;0.014	B;B;B	0.15484	0.008;0.01;0.013	T	0.12553	-1.0543	10	0.38643	T	0.18	4.3452	5.5152	0.16902	0.0:0.0969:0.3312:0.5719	.	102;102;102	C9J4H0;Q9Y6J8-2;Q9Y6J8	.;.;STYL1_HUMAN	I	102;102;102;102;102;57;102	ENSP00000248600:K102I;ENSP00000352726:K102I;ENSP00000353798:K102I;ENSP00000392221:K102I;ENSP00000411812:K102I	ENSP00000248600:K102I	K	-	2	0	STYXL1	75489107	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.146000	0.10250	-0.271000	0.09272	0.379000	0.24179	AAA			0.428	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344825.1		NM_016086		A	75651171	T	A	75651171	3	1	96	1	0	0	0	0	1	0	0	0	15384	1841	64	5	660	5	STYXL1	7	75651171	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	36150906	75651171	83487492	245	7030											
ABCB4	5244	broad.mit.edu	37	chr7	87079377	87079377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcttttgcataagcaGctagttctttgtcactaaat	9	15	7	10	1	2	0	1	0	1	0	2	0	2	0	1	0	4	5	1	0	4	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:87079377G>T	ENST00000265723.4	-	8	851	c.740C>A	c.(739-741)gCt>gAt	p.A247D	ABCB4_ENST00000545634.1_Missense_Mutation_p.A247D|ABCB4_ENST00000453593.1_Missense_Mutation_p.A247D|ABCB4_ENST00000358400.3_Missense_Mutation_p.A247D|ABCB4_ENST00000359206.3_Missense_Mutation_p.A247D	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	247	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TGCATAAGCAGCTAGTTCTTT	0.488																																					p.A247D													.	ABCB4	177		0			c.C740A												84	84	84					7																	87079377		2203	4300	6503	SO:0001583	missense	5244	exon8			TAAGCAGCTAGTT	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.740C>A	7.37:g.87079377G>T	ENSP00000265723:p.Ala247Asp		264	0	0		231	0.01	3	NM_018850	1	0	0	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	g	8.062	0.768261	0.15983	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.75	3.96	0.45880	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.220560	0.45867	D	0.000324	T	0.61677	0.2366	N	0.04203	-0.255	0.09310	N	1	B;P;P	0.41188	0.002;0.696;0.741	B;B;P	0.45712	0.007;0.358;0.491	T	0.54748	-0.8247	10	0.12103	T	0.63	-11.3833	7.2634	0.26216	0.1397:0.0:0.7233:0.137	.	247;247;247	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	D	247	ENSP00000352135:A247D;ENSP00000351172:A247D;ENSP00000265723:A247D;ENSP00000392983:A247D;ENSP00000437465:A247D	ENSP00000265723:A247D	A	-	2	0	ABCB4	86917313	0.199000	0.23386	0.529000	0.27951	0.985000	0.73830	2.742000	0.47434	0.787000	0.33731	0.591000	0.81541	GCT			0.488	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000336083.1		NM_000443		T	87079377	G	T	87079377	3	4	96	1	0	0	0	0	1	0	0	0	43	971	34	2	3204	2	ABCB4	7	87079377	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	11428206	87079377	72059286	246	7031											
ADAM22	53616	broad.mit.edu	37	chr7	87737492	87737492	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttatttctgttttcaggGaggagagcactgttactacc	8	16	9	8	0	3	1	1	0	2	1	3	3	3	2	1	2	3	3	1	2	3	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:87737492G>T	ENST00000265727.7	+	5	471	c.392G>T	c.(391-393)gGa>gTa	p.G131V	ADAM22_ENST00000398204.4_Splice_Site_p.G131V|ADAM22_ENST00000439864.1_Splice_Site_p.G131V|ADAM22_ENST00000315984.7_Splice_Site_p.G131V|ADAM22_ENST00000398201.4_Splice_Site_p.G131V|ADAM22_ENST00000398209.3_Splice_Site_p.G131V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	131					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTTTTCAGGGAGGAGAGCAC	0.428																																					p.G131V													.	ADAM22	280		0			c.G392T												81	77	78					7																	87737492		1969	4152	6121	SO:0001630	splice_region_variant	53616	exon5			TTCAGGGAGGAGA	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.391-1G>T	7.37:g.87737492G>T			86	0	0		109	0.04	4	NM_021722	0		0	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Splice_Site	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447361	0.84101	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41	5.76	5.76	0.90799	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	N	0.24115	0.695	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;0.999;1.0;0.998;1.0;1.0	T	0.01484	-1.1343	10	0.59425	D	0.04	.	19.0945	0.93244	0.0:0.0:1.0:0.0	.	183;131;131;131;131;131	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	V	131;131;148;131;131;131;131;98	ENSP00000381262:G131V;ENSP00000391334:G131V;ENSP00000413899:G148V;ENSP00000381260:G131V;ENSP00000265727:G131V;ENSP00000315900:G131V;ENSP00000381267:G131V;ENSP00000381261:G98V	ENSP00000265727:G131V	G	+	2	0	ADAM22	87575428	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.758000	0.68776	2.882000	0.98803	0.655000	0.94253	GGA			0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268370.2		NM_021723	Missense_Mutation	T	87737492	G	T	87737492	5	4	96	1	0	0	0	0	0	0	1	0	244	1188	41	3	410	3	ADAM22	7	87737492	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	658115	87737492	71401171	247	7032											
PCOLCE	5118	broad.mit.edu	37	chr7	100205135	100205135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgcagagcaacttctgtgCcagcagccttggtaagaata	11	10	10	10	0	1	2	0	0	1	2	1	2	1	2	2	1	6	4	2	1	4	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:100205135C>T	ENST00000223061.5	+	7	1281	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	334	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AACTTCTGTGCCAGCAGCCTT	0.597																																					p.A334V													.	PCOLCE	37		0			c.C1001T												147	153	151					7																	100205135		2203	4300	6503	SO:0001583	missense	5118	exon7			TCTGTGCCAGCAG	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1001C>T	7.37:g.100205135C>T	ENSP00000223061:p.Ala334Val		134	0	0		153	0.04	6	NM_002593	129	0	0	B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479393	0.44044	.	.	ENSG00000106333	ENST00000223061	T	0.23754	1.89	4.61	3.72	0.42706	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.867399	0.10205	N	0.702856	T	0.26011	0.0634	L	0.43923	1.385	0.36466	D	0.866978	B	0.27117	0.168	B	0.30716	0.119	T	0.12863	-1.0531	10	0.44086	T	0.13	-5.3206	11.5648	0.50798	0.1895:0.8105:0.0:0.0	.	334	Q15113	PCOC1_HUMAN	V	334	ENSP00000223061:A334V	ENSP00000223061:A334V	A	+	2	0	PCOLCE	100043071	0.929000	0.31497	0.824000	0.32777	0.911000	0.54048	2.227000	0.42972	1.130000	0.42092	0.462000	0.41574	GCC			0.597	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345285.1		NM_002593		T	100205135	C	T	100205135	3	4	96	1	0	0	0	0	1	0	0	0	11611	739	26	2	1027	2	PCOLCE	7	100205135	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	12467643	100205135	58933528	248	7033											
SLC12A9	56996	mdanderson.org	37	chr7	100458783	100458783	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctcctggctgggaagctGaacacactggctgctgtggt	6	10	15	10	0	0	1	0	1	0	0	1	2	1	2	1	4	4	5	1	4	2	0	rs376976514		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:100458783G>A	ENST00000354161.3	+	10	1367	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	SLC12A9_ENST00000415287.1_Silent_p.L325L|SLC12A9_ENST00000540482.1_Silent_p.L414L|SLC12A9_ENST00000275729.3_Silent_p.L325L|SLC12A9_ENST00000428758.1_Silent_p.L414L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	414					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)					CTGGGAAGCTGAACACACTGG	0.607																																					p.L414L													.	.			0			c.G1242A							G		0,4406		0,0,2203	113	98	103		1242	3.2	1	7		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC12A9	NM_020246.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		414/915	100458783	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56996	exon10			GAAGCTGAACACA	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.1242G>A	7.37:g.100458783G>A			70	0	0		53	0.06	3	NM_020246	40	0	0	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	CCDS5707.1																																																																																					0.607	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342837.1		NM_020246		A	100458783	G	A	100458783	2	1	96	1	0	0	0	0	0	0	0	1	14413	1277	45	3		3	SLC12A9	7	100458783	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	253648	100458783	58679880	249	7034											
CUX1	1523	broad.mit.edu;mdanderson.org	37	chr7	101758516	101758516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcgaacagaattatttGacctgaaaaccaaatacgat	19	9	5	8	2	0	3	0	2	0	1	1	5	0	3	2	0	4	0	2	0	8	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:101758516G>T	ENST00000292535.7	+	8	675	c.637G>T	c.(637-639)Gac>Tac	p.D213Y	CUX1_ENST00000550008.2_Missense_Mutation_p.D213Y|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.D178Y|CUX1_ENST00000556210.1_Missense_Mutation_p.D213Y|CUX1_ENST00000546411.2_Missense_Mutation_p.D213Y|CUX1_ENST00000292538.4_Missense_Mutation_p.D224Y|CUX1_ENST00000393824.3_Missense_Mutation_p.D187Y|CUX1_ENST00000437600.4_Missense_Mutation_p.D224Y|CUX1_ENST00000360264.3_Missense_Mutation_p.D224Y|CUX1_ENST00000547394.2_Missense_Mutation_p.D208Y|CUX1_ENST00000549414.2_Missense_Mutation_p.D213Y	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	213					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						AGAATTATTTGACCTGAAAAC	0.363																																					p.D224Y													.	CUX1	253		0			c.G670T												109	106	107					7																	101758516		2203	4300	6503	SO:0001583	missense	1523	exon8			TTATTTGACCTGA	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.637G>T	7.37:g.101758516G>T	ENSP00000292535:p.Asp213Tyr		134	0.0149253731	2		123	0.04	5	NM_181500	14	0	0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616296	0.87359	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.80123	0.94;0.94;0.94;1.42;0.94;0.94;-1.34;0.94;0.94;0.94	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.88883	0.6558	L	0.60067	1.865	0.58432	D	0.999998	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	0.985;0.997;0.996;0.988;0.98;0.988;0.999	D	0.88689	0.3207	10	0.72032	D	0.01	-46.0063	20.2228	0.98330	0.0:0.0:1.0:0.0	.	187;213;178;208;224;224;224	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	Y	224;208;224;178;224;213;213;213;213;213	ENSP00000292538:D224Y;ENSP00000449371:D208Y;ENSP00000353401:D224Y;ENSP00000409745:D178Y;ENSP00000414091:D224Y;ENSP00000292535:D213Y;ENSP00000446630:D213Y;ENSP00000447373:D213Y;ENSP00000450125:D213Y;ENSP00000451558:D213Y	ENSP00000292535:D213Y	D	+	1	0	CUX1	101545236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.318000	0.79029	2.789000	0.95967	0.655000	0.94253	GAC			0.363	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000347535.1		NM_001913		T	101758516	G	T	101758516	3	4	96	1	0	0	0	0	1	0	0	0	4066	1290	45	3	734	3	CUX1	7	101758516	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1299733	101758516	57380147	250	7035											
LRRC17	10234	broad.mit.edu	37	chr7	102579955	102579955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataaaatcaaccaacttcGacccaaggaatttgaagatg	18	8	6	9	1	1	2	1	1	0	1	2	4	1	3	2	1	2	0	2	1	8	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:102579955G>T	ENST00000339431.4	+	3	1146	c.851G>T	c.(850-852)cGa>cTa	p.R284L	LRRC17_ENST00000249377.4_Missense_Mutation_p.R284L|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000485478.1_3'UTR	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	284					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						AACCAACTTCGACCCAAGGAA	0.363																																					p.R284L													.	LRRC17	45		0			c.G851T												102	103	102					7																	102579955		2203	4300	6503	SO:0001583	missense	10234	exon3			AACTTCGACCCAA	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.851G>T	7.37:g.102579955G>T	ENSP00000344242:p.Arg284Leu		121	0	0		152	0.04	6	NM_005824	7	0	0	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362557	0.61403	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.57907	3.76;0.37	6.03	5.14	0.70334	.	0.000000	0.47852	D	0.000205	T	0.55465	0.1922	L	0.52364	1.645	0.50039	D	0.999841	P;P	0.47034	0.589;0.889	B;P	0.49922	0.103;0.626	T	0.55623	-0.8112	10	0.54805	T	0.06	-12.2855	11.8093	0.52173	0.1342:0.0:0.8658:0.0	.	284;284	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	L	284	ENSP00000344242:R284L;ENSP00000249377:R284L	ENSP00000249377:R284L	R	+	2	0	LRRC17	102367191	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.176000	0.31957	2.861000	0.98227	0.655000	0.94253	CGA			0.363	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347930.1		NM_005824		T	102579955	G	T	102579955	3	4	96	1	0	0	0	0	1	0	0	0	8989	1058	37	1	857	1	LRRC17	7	102579955	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	821439	102579955	56558708	251	7036											
IFRD1	3475	broad.mit.edu	37	chr7	112096081	112096081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagtccttgatgaggaagGaactcaagaagacctagagt	16	7	12	6	0	1	6	1	2	0	4	2	8	2	8	2	2	1	0	2	2	6	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:112096081G>T	ENST00000403825.3	+	3	485	c.224G>T	c.(223-225)gGa>gTa	p.G75V	IFRD1_ENST00000429071.1_Missense_Mutation_p.G75V|IFRD1_ENST00000005558.4_Missense_Mutation_p.G75V|IFRD1_ENST00000535603.1_Missense_Mutation_p.G25V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	75					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						GATGAGGAAGGAACTCAAGAA	0.368																																					p.G75V													IFRD1,NS,carcinoma,+1,1	IFRD1	46	1	0			c.G224T												61	63	62					7																	112096081		2203	4300	6503	SO:0001583	missense	3475	exon4			AGGAAGGAACTCA	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.224G>T	7.37:g.112096081G>T	ENSP00000384477:p.Gly75Val		99	0	0		83	0.05	4	NM_001007245	70	0	0	B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.149934	0.37923	.	.	ENSG00000006652	ENST00000005558;ENST00000443101;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T	0.45668	0.89;0.89;0.9	5.11	5.11	0.69529	Interferon-related developmental regulator, N-terminal (1);	0.155149	0.56097	D	0.000030	T	0.34308	0.0893	L	0.27053	0.805	0.54753	D	0.999986	P;B	0.49559	0.925;0.292	P;B	0.45071	0.468;0.41	T	0.05146	-1.0903	10	0.33940	T	0.23	-21.2017	13.6086	0.62063	0.0:0.2827:0.7173:0.0	.	75;75	C9JA65;O00458	.;IFRD1_HUMAN	V	75;25;75;75;25;25;25	ENSP00000005558:G75V;ENSP00000384477:G75V;ENSP00000439188:G25V	ENSP00000005558:G75V	G	+	2	0	IFRD1	111883317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.292000	0.65673	2.532000	0.85374	0.585000	0.79938	GGA			0.368	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338700.1		NM_001550		T	112096081	G	T	112096081	3	4	96	1	0	0	0	0	1	0	0	0	7568	1174	41	3	234	3	IFRD1	7	112096081	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	9516126	112096081	47042582	252	7037											
CFTR	1080	broad.mit.edu	37	chr7	117188705	117188705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaacagggatttggggAattatttgagaaagcaaaac	15	13	10	3	0	0	1	0	1	0	1	0	4	0	3	0	3	3	1	0	3	6	6	rs397508180		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:117188705A>T	ENST00000003084.6	+	10	1352	c.1220A>T	c.(1219-1221)gAa>gTa	p.E407V	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	407					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)	GGATTTGGGGAATTATTTGAG	0.328									Cystic Fibrosis																												p.E407V													.	CFTR	171		0			c.A1220T	GRCh37	CM993855	CFTR	M								18	18	18					7																	117188705		2198	4290	6488	SO:0001583	missense	1080	exon10	Familial Cancer Database	CF	TTGGGGAATTATT	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.1220A>T	7.37:g.117188705A>T	ENSP00000003084:p.Glu407Val		191	0.0052356021	1		206	0.03	6	NM_000492	0		0	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781907	0.49891	.	.	ENSG00000001626	ENST00000003084;ENST00000426809	D;D	0.93189	-3.12;-3.18	4.85	3.7	0.42460	ABC transporter, transmembrane domain, type 1 (1);	0.149774	0.64402	D	0.000018	D	0.92698	0.7679	M	0.81802	2.56	0.80722	D	1	B	0.27882	0.192	B	0.32022	0.139	D	0.90227	0.4276	10	0.56958	D	0.05	-10.5798	10.1866	0.43002	0.9212:0.0:0.0788:0.0	.	407	P13569	CFTR_HUMAN	V	407;377	ENSP00000003084:E407V;ENSP00000389119:E377V	ENSP00000003084:E407V	E	+	2	0	CFTR	116975941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.730000	0.74780	0.822000	0.34565	0.528000	0.53228	GAA			0.328	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059397.3		NM_000492		T	117188705	A	T	117188705	3	4	96	1	0	0	0	0	1	0	0	0	3296	246	9	5	1258	5	CFTR	7	117188705	Missense_Mutation	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	5092624	117188705	41949958	253	7038											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431590	117431590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtggagaaggagtttGggagagccctggcttttttg	6	13	18	4	0	0	2	0	0	0	2	0	5	0	3	1	5	1	2	1	5	1	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:117431590G>T	ENST00000160373.3	-	4	1751	c.1660C>A	c.(1660-1662)Caa>Aaa	p.Q554K	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	554	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)		GAAGGAGTTTGGGAGAGCCCT	0.517																																					p.Q554K													.	CTTNBP2	200		0			c.C1660A												113	122	119					7																	117431590		2203	4300	6503	SO:0001583	missense	83992	exon4			GAGTTTGGGAGAG		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.1660C>A	7.37:g.117431590G>T	ENSP00000160373:p.Gln554Lys		247	0.008097166	2		235	0.02	4	NM_033427	0		0	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311663|4.311663	0.81358|0.81358	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.70399	.|-0.48	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86318|0.86318	0.5904|0.5904	M|M	0.88979|0.88979	2.995|2.995	0.54753|0.54753	D|D	0.999989|0.999989	.|D	.|0.69078	.|0.997	.|D	.|0.63192	.|0.912	D|D	0.87761|0.87761	0.2598|0.2598	5|10	.|0.62326	.|D	.|0.03	-0.755|-0.755	19.9756|19.9756	0.97304|0.97304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|554	.|Q8WZ74	.|CTTB2_HUMAN	Q|K	82|554	.|ENSP00000160373:Q554K	.|ENSP00000160373:Q554K	P|Q	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117218826|117218826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.420000|9.420000	0.97426|0.97426	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	CCA|CAA			0.517	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059201.4		NM_033427		T	117431590	G	T	117431590	3	4	96	1	0	0	0	0	1	0	0	0	4047	1357	47	3	3411	3	CTTNBP2	7	117431590	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	242885	117431590	41707073	254	7039											
SND1	27044	mdanderson.org	37	chr7	127714713	127714713	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtccctgctgtctgccGaggaggccgcaaagcagaag	11	5	13	12	2	1	1	0	0	1	1	2	3	2	2	3	2	3	3	3	2	3	0	rs148173300		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:127714713G>T	ENST00000354725.3	+	17	2133	c.1939G>T	c.(1939-1941)Gag>Tag	p.E647*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	647	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCTGTCTGCCGAGGAGGCCGC	0.617																																					p.E647X													.	.			0			c.G1939T												51	41	44					7																	127714713		2203	4300	6503	SO:0001587	stop_gained	27044	exon17			TCTGCCGAGGAGG		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1939G>T	7.37:g.127714713G>T	ENSP00000346762:p.Glu647*		47	0	0		50	0.06	3	NM_014390	324	0	1	Q13122|Q96AG0	Nonsense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	39	7.383089	0.98248	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-25.6657	17.1354	0.86738	0.0:0.0:1.0:0.0	.	.	.	.	X	647;637	.	ENSP00000346762:E647X	E	+	1	0	SND1	127501949	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.281000	0.78621	2.651000	0.90000	0.561000	0.74099	GAG			0.617	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349148.1		NM_014390		T	127714713	G	T	127714713	4	4	96	1	0	0	0	0	0	1	0	0	14867	1059	37	1	2005	1	SND1	7	127714713	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	10283123	127714713	31423950	255	7040											
CCDC136	64753	broad.mit.edu	37	chr7	128446881	128446881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagcacctcagggataCggtggcctccttcaaagaga	10	7	12	12	1	2	1	2	0	0	1	3	3	3	2	3	3	3	3	3	3	2	2	rs564211780	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:128446881C>T	ENST00000297788.4	+	9	1755	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	CCDC136_ENST00000487361.1_Missense_Mutation_p.T410M|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	463						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTCAGGGATACGGTGGCCTCC	0.557													C|||	2	0.000399361	8e-04	0	5008	,	,		17558	0.001		0	False		,,,				2504	0				p.T463M													.	CCDC136	170		0			c.C1388T																																									SO:0001583	missense	64753	exon9			GGGATACGGTGGC		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.1388C>T	7.37:g.128446881C>T	ENSP00000297788:p.Thr463Met		174	0	0		196	0.02	4	NM_022742	7	0	0	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.979|6.979	0.550682|0.550682	0.13374|0.13374	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	.|T;T;T	.|0.30182	.|1.54;1.54;1.54	5.3|5.3	2.79|2.79	0.32731|0.32731	.|.	.|1.005770	.|0.07987	.|N	.|0.986445	T|T	0.10165|0.10165	0.0249|0.0249	N|N	0.00707|0.00707	-1.245|-1.245	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.10296	.|0.003;0.0;0.003	.|B;B;B	.|0.06405	.|0.001;0.0;0.002	T|T	0.19192|0.19192	-1.0313|-1.0313	5|10	.|0.40728	.|T	.|0.16	0.099|0.099	6.2018|6.2018	0.20579|0.20579	0.0:0.2:0.0:0.8|0.0:0.2:0.0:0.8	.|.	.|463;410;463	.|Q96JN2-2;C9JE17;Q96JN2	.|.;.;CC136_HUMAN	W|M	340|410;463;463;463;54	.|ENSP00000420509:T410M;ENSP00000297788:T463M;ENSP00000417991:T54M	.|ENSP00000297788:T463M	R|T	+|+	1|2	2|0	CCDC136|CCDC136	128234117|128234117	0.151000|0.151000	0.22747|0.22747	0.001000|0.001000	0.08648|0.08648	0.010000|0.010000	0.07245|0.07245	1.360000|1.360000	0.34125|0.34125	0.841000|0.841000	0.35020|0.35020	-0.459000|-0.459000	0.05422|0.05422	CGG|ACG			0.557	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000350641.1		NM_022742		T	128446881	C	T	128446881	3	4	96	1	0	0	0	0	1	0	0	0	2772	536	19	1	1422	1	CCDC136	7	128446881	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	732168	128446881	30691782	256	7041											
EPHB6	2051	mdanderson.org	37	chr7	142565385	142565385	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtcttcccagcttccGgaaagactctccttggtgat	7	12	10	12	1	2	2	0	1	2	1	5	4	4	3	3	2	2	2	3	2	1	3	rs8177153	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:142565385G>T	ENST00000392957.2	+	12	2557	c.1770G>T	c.(1768-1770)ccG>ccT	p.P590P	EPHB6_ENST00000411471.2_Silent_p.P313P|EPHB6_ENST00000442129.1_Silent_p.P590P	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	590						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)					CCCAGCTTCCGGAAAGACTCT	0.637																																					p.P590P													.	.			0			c.G1770T												58	55	56					7																	142565385		2203	4300	6503	SO:0001819	synonymous_variant	2051	exon12			GCTTCCGGAAAGA	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.1770G>T	7.37:g.142565385G>T			54	0	0		47	0.06	3	NM_004445	5	0	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																					0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341329.1				T	142565385	G	T	142565385	2	4	96	1	0	0	0	0	0	0	0	1	5185	1103	39	1		1	EPHB6	7	142565385	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	14118504	142565385	16573278	257	7042											
EPHA1	2041	broad.mit.edu	37	chr7	143094683	143094683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacgagaatcccaagcagCaaggctgcaccaagcagcag	17	2	10	12	1	0	1	0	0	0	1	1	2	1	1	2	1	6	6	2	1	6	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:143094683C>T	ENST00000275815.3	-	9	1769	c.1683G>A	c.(1681-1683)ttG>ttA	p.L561L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	561					activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TCCCAAGCAGCAAGGCTGCAC	0.612																																					p.L561L													.	EPHA1	193		0			c.G1683A												87	84	85					7																	143094683		2203	4300	6503	SO:0001819	synonymous_variant	2041	exon9			AAGCAGCAAGGCT	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1683G>A	7.37:g.143094683C>T			238	0	0		231	0.01	3	NM_005232	35	0	0	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																					0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342154.1				T	143094683	C	T	143094683	2	4	96	1	0	0	0	0	0	0	0	1	5172	709	25	2		2	EPHA1	7	143094683	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	529298	143094683	16043980	258	7043											
ZNF862	643641	broad.mit.edu	37	chr7	149543304	149543304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagagccatggcttggCagcgtccagggccagaggag	8	4	18	11	1	0	2	0	0	0	2	1	3	1	3	4	5	2	2	4	5	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:149543304C>T	ENST00000223210.4	+	3	446	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	67	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CATGGCTTGGCAGCGTCCAGG	0.582																																					p.G67G													.	ZNF862	97		0			c.C201T												29	32	31					7																	149543304		2013	4192	6205	SO:0001819	synonymous_variant	643641	exon3			GCTTGGCAGCGTC	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.201C>T	7.37:g.149543304C>T			281	0	0		240	0.02	4	NM_001099220	0		0	A0AUL8	Silent	SNP	ENST00000223210.4	37	CCDS47741.1																																																																																					0.582	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350165.1		NM_001099220		T	149543304	C	T	149543304	2	4	96	1	0	0	0	0	0	0	0	1	18218	697	25	2		2	ZNF862	7	149543304	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	6448621	149543304	9595359	259	7044											
ATP6V0E2	155066	hgsc.bcm.edu	37	chr7	149571176	149571176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggcgcactcattcgccCtcccggtcatcatcttcacc	6	10	7	18	4	5	1	4	1	1	0	7	1	6	1	3	2	0	1	3	2	0	2	rs11538585		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:149571176C>T	ENST00000425642.2	+	1	45	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000421974.2_Missense_Mutation_p.L57F|ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.L8F|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000464662.1_Missense_Mutation_p.L8F|ATP6V0E2_ENST00000456496.2_Missense_Mutation_p.L57F|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.L8F			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	8					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)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTCATTCGCCCTCCCGGTCAT	0.716																																					p.L57F													.	.			0			c.C169T												7	10	9					7																	149571176		1704	3422	5126	SO:0001583	missense	155066	exon1			TTCGCCCTCCCGG	AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"ATPases / V-type"	21723	protein-coding gene	gene with protein product		611019	"chromosome 7 open reading frame 32", "ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.22C>T	7.37:g.149571176C>T	ENSP00000396148:p.Leu8Phe		98	0	0		97	0.04	4	NM_001100592	42	0	0	A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Missense_Mutation	SNP	ENST00000425642.2	37		.	.	.	.	.	.	.	.	.	.	C	26.2	4.718234	0.89205	.	.	ENSG00000171130	ENST00000421974;ENST00000456496;ENST00000425642;ENST00000479613	.	.	.	5.7	4.8	0.61643	.	.	.	.	.	T	0.68677	0.3027	L	0.50333	1.59	0.46096	D	0.998868	D;D;P	0.89917	1.0;0.978;0.589	D;P;P	0.85130	0.997;0.877;0.58	T	0.70096	-0.4966	8	0.87932	D	0	-7.515	11.1831	0.48640	0.0:0.7628:0.2372:0.0	.	57;8;8	E9PAS2;Q8NHE4-3;Q8NHE4	.;.;VA0E2_HUMAN	F	57;57;8;8	.	ENSP00000411672:L57F	L	+	1	0	ATP6V0E2	149202109	0.970000	0.33590	1.000000	0.80357	0.996000	0.88848	0.649000	0.24843	2.690000	0.91761	0.563000	0.77884	CTC			0.716	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470874.1		NM_145230		T	149571176	C	T	149571176	3	4	96	1	0	0	0	0	1	0	0	0	1176	681	24	3	171	3	ATP6V0E2	7	149571176	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	27872	149571176	9567487	260	7045											
MLL3	58508	broad.mit.edu	37	chr7	151873946	151873946	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagaagtcttttctccAtcatttaggtctgagtgagc	10	14	9	8	0	4	3	1	2	3	1	5	3	4	3	1	1	2	1	1	1	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:151873946A>T	ENST00000262189.6	-	38	8810	c.8592T>A	c.(8590-8592)gaT>gaA	p.D2864E	KMT2C_ENST00000355193.2_Missense_Mutation_p.D2864E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2864					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)										TCTTTTCTCCATCATTTAGGT	0.408																																					p.D2864E													.	MLL3	1564		0			c.T8592A												125	121	123					7																	151873946		2203	4300	6503	SO:0001583	missense	58508	exon38			TTCTCCATCATTT	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.8592T>A	7.37:g.151873946A>T	ENSP00000262189:p.Asp2864Glu		130	0.0076923077	1		97	0.03	3	NM_170606	1	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.815|9.815	1.184261|1.184261	0.21870|0.21870	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.83591|.	-1.71;-1.74|.	5.4|5.4	-7.62|-7.62	0.01294|0.01294	.|.	0.436178|.	0.18721|.	N|.	0.133007|.	T|T	0.15739|0.15739	0.0379|0.0379	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999993|0.999993	B;B;B|.	0.09022|.	0.002;0.001;0.002|.	B;B;B|.	0.09377|.	0.003;0.003;0.004|.	T|T	0.25398|0.25398	-1.0133|-1.0133	10|5	0.06365|.	T|.	0.9|.	.|.	1.9753|1.9753	0.03415|0.03415	0.4597:0.1728:0.2553:0.1121|0.4597:0.1728:0.2553:0.1121	.|.	2864;1925;2864|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	E|R	2864|370	ENSP00000262189:D2864E;ENSP00000347325:D2864E|.	ENSP00000262189:D2864E|.	D|W	-|-	3|1	2|0	MLL3|MLL3	151504879|151504879	0.017000|0.017000	0.18338|0.18338	0.000000|0.000000	0.03702|0.03702	0.871000|0.871000	0.50021|0.50021	0.003000|0.003000	0.13083|0.13083	-0.976000|-0.976000	0.03542|0.03542	0.528000|0.528000	0.53228|0.53228	GAT|TGG			0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3				T	151873946	A	T	151873946	3	4	96	1	0	0	0	0	1	0	0	0	9638	214	8	5	6231	5	MLL3	7	151873946	Missense_Mutation	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	2302770	151873946	7264717	261	7046											
RBM33	155435	broad.mit.edu	37	chr7	155534588	155534588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaggaacagcaatttgCgtgaattacccatagcgccg	12	7	10	12	4	0	1	0	1	0	0	0	2	0	2	3	1	5	1	3	1	6	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr7:155534588C>T	ENST00000401878.3	+	13	2323	c.2125C>T	c.(2125-2127)Cgt>Tgt	p.R709C		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	709							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R709C(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAGCAATTTGCGTGAATTACC	0.507																																					p.R709C													RBM33_ENST00000401878,colon,carcinoma,0,2	RBM33	157	2	2	Substitution - Missense(2)	large_intestine(2)	c.C2125T												111	109	110					7																	155534588		2203	4300	6503	SO:0001583	missense	155435	exon13			AATTTGCGTGAAT	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2125C>T	7.37:g.155534588C>T	ENSP00000384160:p.Arg709Cys		205	0.0048780488	1		192	0.03	6	NM_053043	7	0	0	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214556	0.58452	.	.	ENSG00000184863	ENST00000401878	T	0.61040	0.14	5.76	4.82	0.62117	.	0.086489	0.51477	D	0.000100	T	0.69975	0.3171	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.917;0.966	T	0.68394	-0.5420	9	.	.	.	.	13.4472	0.61148	0.2744:0.7256:0.0:0.0	.	426;709	B4DVQ2;Q96EV2	.;RBM33_HUMAN	C	709	ENSP00000384160:R709C	.	R	+	1	0	RBM33	155227349	1.000000	0.71417	0.811000	0.32455	0.210000	0.24377	2.840000	0.48215	2.720000	0.93068	0.591000	0.81541	CGT			0.507	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317225.3		NM_001008408		T	155534588	C	T	155534588	3	4	96	1	0	0	0	0	1	0	0	0	13153	768	27	1	2175	1	RBM33	7	155534588	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	3660642	155534588	3604075	262	7047											
REEP4	80346	broad.mit.edu	37	chr8	21996273	21996273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaccaacactcatcctcgGtgtcgctgtcctgcaggccc	6	9	9	17	2	1	1	1	1	0	0	5	1	3	1	4	2	2	2	4	2	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:21996273G>T	ENST00000306306.3	-	7	1055	c.587C>A	c.(586-588)aCc>aAc	p.T196N	REEP4_ENST00000334530.5_Missense_Mutation_p.P151T|REEP4_ENST00000523293.1_Intron	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	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)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CTCATCCTCGGTGTCGCTGTC	0.672																																					p.T196N													.	REEP4	13		0			c.C587A												59	69	66					8																	21996273		2203	4300	6503	SO:0001583	missense	80346	exon7			TCCTCGGTGTCGC	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"Receptor accessory proteins"	26176	protein-coding gene	gene with protein product		609349	"chromosome 8 open reading frame 20"	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.587C>A	8.37:g.21996273G>T	ENSP00000303482:p.Thr196Asn		66	0	0		101	0.04	4	NM_025232	210	0	0	D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	ENST00000306306.3	37	CCDS6024.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.200|9.200	1.028205|1.028205	0.19512|0.19512	.|.	.|.	ENSG00000168476|ENSG00000168476	ENST00000334530|ENST00000306306	D|D	0.87809|0.82433	-2.3|-1.61	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.262365	.|0.27105	.|N	.|0.020905	T|T	0.63931|0.63931	0.2553|0.2553	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B|P	0.09022|0.37781	0.002|0.608	B|B	0.04013|0.34590	0.001|0.186	T|T	0.66638|0.66638	-0.5873|-0.5873	9|10	0.20519|0.19590	T|T	0.43|0.45	-19.0446|-19.0446	15.512|15.512	0.75789|0.75789	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	151|196	Q9H6H4-2|Q9H6H4	.|REEP4_HUMAN	T|N	151|196	ENSP00000333889:P151T|ENSP00000303482:T196N	ENSP00000333889:P151T|ENSP00000303482:T196N	P|T	-|-	1|2	0|0	REEP4|REEP4	22052218|22052218	0.998000|0.998000	0.40836|0.40836	0.920000|0.920000	0.36463|0.36463	0.184000|0.184000	0.23303|0.23303	2.840000|2.840000	0.48215|0.48215	2.240000|2.240000	0.73641|0.73641	0.655000|0.655000	0.94253|0.94253	CCG|ACC			0.672	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254337.2		NM_025232		T	21996273	G	T	21996273	3	4	96	1	0	0	0	0	1	0	0	0	13230	1261	44	3	194	3	REEP4	8	21996273	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		21996273	124367749	263	7048											
STC1	6781	broad.mit.edu	37	chr8	23702384	23702384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcggctcattggtgcGtctcctgttgaagtcagctc	4	14	11	12	2	4	1	2	1	2	0	6	1	4	1	1	2	3	3	1	2	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:23702384G>A	ENST00000290271.2	-	4	926	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	STC1_ENST00000524323.1_Missense_Mutation_p.R146C	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	215					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R215C(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCATTGGTGCGTCTCCTGTTG	0.552																																					p.R215C													STC1,NS,carcinoma,0,2	STC1	49	2	1	Substitution - Missense(1)	pancreas(1)	c.C643T												179	151	160					8																	23702384		2203	4300	6503	SO:0001583	missense	6781	exon4			TGGTGCGTCTCCT		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.643C>T	8.37:g.23702384G>A	ENSP00000290271:p.Arg215Cys		220	0.0045454545	1		248	0.01	3	NM_003155	19	0	0	B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000292	0.54147	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	6.16	6.16	0.99307	.	0.153128	0.64402	D	0.000012	T	0.62672	0.2447	N	0.24115	0.695	0.58432	D	0.999997	D	0.89917	1.0	D	0.75020	0.985	T	0.60016	-0.7345	9	0.37606	T	0.19	-17.3129	14.2822	0.66221	0.0:0.0:0.8514:0.1486	.	215	P52823	STC1_HUMAN	C	215;146;146	.	ENSP00000290271:R215C	R	-	1	0	STC1	23758329	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.828000	0.55753	2.937000	0.99478	0.650000	0.86243	CGC			0.552	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215143.1				A	23702384	G	A	23702384	3	1	96	1	0	0	0	0	1	0	0	0	15298	1145	40	1	104	1	STC1	8	23702384	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1706111	23702384	122661638	264	7049											
PPP2R2A	5520	broad.mit.edu	37	chr8	26221301	26221301	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcatctcctctatttcGgatgtaaaattcagccatag	13	13	6	9	1	4	0	2	0	2	0	6	2	4	1	2	1	1	1	2	1	5	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:26221301G>T	ENST00000380737.3	+	8	1196	c.867G>T	c.(865-867)tcG>tcT	p.S289S	PPP2R2A_ENST00000315985.7_Silent_p.S299S	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	289					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CCTCTATTTCGGATGTAAAAT	0.363																																					p.S299S													PPP2R2A_ENST00000380737,NS,malignant_melanoma,+1,1	PPP2R2A	44	1	0			c.G897T												94	100	98					8																	26221301		2203	4300	6503	SO:0001819	synonymous_variant	5520	exon8			TATTTCGGATGTA	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.867G>T	8.37:g.26221301G>T			122	0.0081967213	1		181	0.02	4	NM_001177591	136	0	0	B2RBU8|B4E1T7|P50409|Q00007	Silent	SNP	ENST00000380737.3	37	CCDS34867.1																																																																																					0.363	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375954.2		NM_002717		T	26221301	G	T	26221301	2	4	96	1	0	0	0	0	0	0	0	1	12404	1103	39	1		1	PPP2R2A	8	26221301	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2518917	26221301	120142721	265	7050											
ADRA1A	148	broad.mit.edu	37	chr8	26721626	26721626	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggcatgactaagaaaaaAggcagccagcagaggacgaa	18	3	13	7	1	0	3	0	1	0	2	0	5	0	4	1	3	2	3	1	3	5	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:26721626A>G	ENST00000519229.1	-	1	867	c.861T>C	c.(859-861)ccT>ccC	p.P287P	ADRA1A_ENST00000380586.1_Silent_p.P287P|ADRA1A_ENST00000380572.3_Silent_p.P287P|ADRA1A_ENST00000358857.5_Silent_p.P287P|ADRA1A_ENST00000354550.4_Silent_p.P287P|ADRA1A_ENST00000380582.3_Silent_p.P287P|ADRA1A_ENST00000380573.3_Silent_p.P287P|ADRA1A_ENST00000380581.2_Silent_p.P287P|ADRA1A_ENST00000380587.1_Silent_p.P287P|ADRA1A_ENST00000276393.4_Silent_p.P287P			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	363					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)	CTAAGAAAAAAGGCAGCCAGC	0.557																																					p.P287P													.	ADRA1A	337		0			c.T861C												44	41	42					8																	26721626		2203	4300	6503	SO:0001819	synonymous_variant	148	exon1			GAAAAAAGGCAGC	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.861T>C	8.37:g.26721626A>G			81	0	0		89	0.03	3	NM_033303	2	0	0	Q9NPY0	Silent	SNP	ENST00000519229.1	37																																																																																						0.557	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000376207.1		NM_033303		G	26721626	A	G	26721626	2	3	96	1	0	0	0	0	0	0	0	1	334	59	3	4		4	ADRA1A	8	26721626	Silent	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	500325	26721626	119642396	266	7051											
ANK1	286	broad.mit.edu	37	chr8	41580653	41580653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtacacaccttggttttgGcttggattggtgccccgtgg	6	13	13	9	1	0	0	0	0	0	0	0	1	0	1	3	5	2	3	3	5	2	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:41580653G>T	ENST00000347528.4	-	9	982	c.899C>A	c.(898-900)gCc>gAc	p.A300D	ANK1_ENST00000396945.1_Missense_Mutation_p.A300D|ANK1_ENST00000379758.2_Missense_Mutation_p.A300D|ANK1_ENST00000289734.7_Missense_Mutation_p.A300D|ANK1_ENST00000352337.4_Missense_Mutation_p.A300D|ANK1_ENST00000396942.1_Missense_Mutation_p.A300D|ANK1_ENST00000265709.8_Missense_Mutation_p.A333D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	300	89 kDa 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)			CTTGGTTTTGGCTTGGATTGG	0.502																																					p.A333D													.	ANK1	497		0			c.C998A												135	115	122					8																	41580653		2203	4300	6503	SO:0001583	missense	286	exon9			GTTTTGGCTTGGA	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.899C>A	8.37:g.41580653G>T	ENSP00000339620:p.Ala300Asp		163	0.0122699387	2		199	0.02	3	NM_001142446	2	0	0	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256554	0.95336	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.41	5.41	0.78517	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83142	0.5190	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.984;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.979;1.0;1.0	D	0.83833	0.0253	10	0.59425	D	0.04	.	19.1876	0.93649	0.0:0.0:1.0:0.0	.	333;300;300;300;300	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	D	300;300;300;300;300;300;333;300	ENSP00000339620:A300D;ENSP00000289734:A300D;ENSP00000369082:A300D;ENSP00000380149:A300D;ENSP00000380147:A300D;ENSP00000309131:A300D;ENSP00000265709:A333D	ENSP00000265709:A333D	A	-	2	0	ANK1	41699810	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.537000	0.85549	0.655000	0.94253	GCC			0.502	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317297.1		NM_020475		T	41580653	G	T	41580653	3	4	96	1	0	0	0	0	1	0	0	0	620	1203	42	2	5236	2	ANK1	8	41580653	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	14859027	41580653	104783369	267	7052											
HOOK3	84376	broad.mit.edu	37	chr8	42829324	42829324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacaagctcaagaagggcaGctcacaacacaaggtaaaaa	19	4	9	9	0	2	1	2	0	0	1	2	1	2	1	0	2	4	5	0	2	9	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:42829324G>T	ENST00000307602.4	+	13	1508	c.1308G>T	c.(1306-1308)caG>caT	p.Q436H		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	436					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)			AAGAAGGGCAGCTCACAACAC	0.443			T	RET	papillary thyroid																																p.Q436H				Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	HOOK3	71		0			c.G1308T												124	121	122					8																	42829324		2203	4300	6503	SO:0001583	missense	84376	exon13			AGGGCAGCTCACA	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.1308G>T	8.37:g.42829324G>T	ENSP00000305699:p.Gln436His		240	0	0		288	0.01	4	NM_032410	7	0	0	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	9.445	1.089027	0.20390	.	.	ENSG00000168172	ENST00000307602	T	0.17691	2.26	5.76	2.99	0.34606	.	0.117514	0.64402	D	0.000010	T	0.08582	0.0213	N	0.19112	0.55	0.58432	D	0.999993	B	0.06786	0.001	B	0.16289	0.015	T	0.25328	-1.0135	10	0.12430	T	0.62	-18.4169	5.6618	0.17672	0.2944:0.1353:0.5704:0.0	.	436	Q86VS8	HOOK3_HUMAN	H	436	ENSP00000305699:Q436H	ENSP00000305699:Q436H	Q	+	3	2	HOOK3	42948481	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.840000	0.27600	0.356000	0.24157	0.655000	0.94253	CAG			0.443	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383172.2		NM_032410		T	42829324	G	T	42829324	3	4	96	1	0	0	0	0	1	0	0	0	7299	962	34	2	1358	2	HOOK3	8	42829324	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1248671	42829324	103534698	268	7053											
PRKDC	5591	broad.mit.edu	37	chr8	48825096	48825096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaacataaacataaccatGctatgtaaaagttcacaggc	17	8	5	11	0	1	0	1	0	0	0	1	0	1	0	2	1	4	3	2	1	7	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:48825096G>T	ENST00000314191.2	-	25	2864	c.2808C>A	c.(2806-2808)agC>agA	p.S936R	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S936R	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	936					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)	ACATAACCATGCTATGTAAAA	0.468								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)												PRKDC,NS,carcinoma,-2,2	PRKDC	394	2	0			.												122	124	123					8																	48825096		1944	4155	6099	SO:0001583	missense	5591	.			AACCATGCTATGT		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.2808C>A	8.37:g.48825096G>T	ENSP00000313420:p.Ser936Arg		140	0.0285714286	4		172	0.04	7	.	2	0	0	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.408337	0.83340	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64085	-0.08;-0.08	5.94	5.07	0.68467	Armadillo-like helical (1);	0.045615	0.85682	D	0.000000	T	0.76154	0.3948	.	.	.	0.58432	D	0.999995	D;D;D	0.71674	0.996;0.996;0.998	D;P;P	0.63703	0.917;0.878;0.878	T	0.79090	-0.1946	9	0.72032	D	0.01	.	11.3343	0.49494	0.1385:0.0:0.8615:0.0	.	936;936;936	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	R	936	ENSP00000313420:S936R;ENSP00000345182:S936R	ENSP00000313420:S936R	S	-	3	2	PRKDC	48987649	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	2.362000	0.44169	1.523000	0.49018	0.650000	0.86243	AGC			0.468	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001081640		T	48825096	G	T	48825096	3	4	96	1	0	0	0	0	1	0	0	0	12541	1310	46	2	9825	2	PRKDC	8	48825096	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5995772	48825096	97538926	269	7054											
PRKDC	5591	broad.mit.edu	37	chr8	48839866	48839866	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattcttctagagcattcagGcctacttctgccaagggggt	8	12	10	11	0	4	1	1	0	3	1	4	1	4	1	2	3	3	1	2	3	3	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:48839866G>T	ENST00000314191.2	-	21	2363	c.2307C>A	c.(2305-2307)ggC>ggA	p.G769G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.G769G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	769					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)	GAGCATTCAGGCCTACTTCTG	0.403								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)												PRKDC,NS,carcinoma,-1,2	PRKDC	394	2	0			.												87	79	82					8																	48839866		1870	4100	5970	SO:0001819	synonymous_variant	5591	.			ATTCAGGCCTACT		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.2307C>A	8.37:g.48839866G>T			218	0	0		289	0.02	6	.	1	0	0	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																						0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001081640		T	48839866	G	T	48839866	2	4	96	1	0	0	0	0	0	0	0	1	12541	1190	42	2		2	PRKDC	8	48839866	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	14770	48839866	97524156	270	7055											
C8orf44	56260	broad.mit.edu	37	chr8	67592032	67592032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggcaaaaggggtctttggCcatcttctgctggagcttcc	8	11	12	10	0	3	0	0	0	3	0	4	1	4	1	2	5	2	3	2	5	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:67592032C>T	ENST00000519561.1	+	3	474	c.323C>T	c.(322-324)gCc>gTc	p.A108V	C8orf44-SGK3_ENST00000520044.1_3'UTR|C8orf44_ENST00000390159.3_Missense_Mutation_p.A108V|C8orf44-SGK3_ENST00000519289.1_5'UTR|C8orf44_ENST00000518860.1_3'UTR	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	108						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGGTCTTTGGCCATCTTCTGC	0.438																																					p.A108V													.	C8orf44	18		0			c.C323T												89	94	92					8																	67592032		2203	4300	6503	SO:0001583	missense	56260	exon3			CTTTGGCCATCTT	AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.323C>T	8.37:g.67592032C>T	ENSP00000428002:p.Ala108Val		140	0.0142857143	2		193	0.02	3	NM_019607	6	0	0	Q9NUM6	Missense_Mutation	SNP	ENST00000519561.1	37	CCDS6193.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858949	0.51376	.	.	ENSG00000213865	ENST00000519561;ENST00000390159	T;T	0.38240	1.15;1.15	3.35	1.47	0.22746	.	.	.	.	.	T	0.27765	0.0683	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.51945	0.685	T	0.16867	-1.0388	9	0.59425	D	0.04	.	9.6304	0.39776	0.0:0.4798:0.5202:0.0	.	108	Q96CB5	CH044_HUMAN	V	108	ENSP00000428002:A108V;ENSP00000375087:A108V	ENSP00000375087:A108V	A	+	2	0	C8orf44	67754586	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-0.423000	0.07034	0.397000	0.25310	0.563000	0.77884	GCC			0.438	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379242.2		NM_019607		T	67592032	C	T	67592032	3	4	96	1	0	0	0	0	1	0	0	0	2431	739	26	2	329	2	C8orf44	8	67592032	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	18752166	67592032	78771990	271	7056											
CSPP1	79848	broad.mit.edu	37	chr8	68030987	68030987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttctttaagatggttcagGaatgatgggcgtacagcctg	9	14	12	6	1	2	2	1	1	1	1	2	3	2	3	1	3	2	2	1	3	3	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:68030987G>T	ENST00000262210.5	+	13	1644	c.1613G>T	c.(1612-1614)gGa>gTa	p.G538V	CSPP1_ENST00000412460.1_Missense_Mutation_p.G244V	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	573	Pro-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATGGTTCAGGAATGATGGGC	0.313																																					p.G538V													.	CSPP1	129		0			c.G1613T												66	59	61					8																	68030987		1827	4075	5902	SO:0001583	missense	79848	exon13			GTTCAGGAATGAT	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1613G>T	8.37:g.68030987G>T	ENSP00000262210:p.Gly538Val		755	0.0013245033	1		1042	0.01	10	NM_024790	12	0	0	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037425	0.75617	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.39406	1.11;1.08;1.08	5.07	5.07	0.68467	.	0.105505	0.38837	N	0.001560	T	0.61615	0.2361	L	0.56769	1.78	0.58432	D	0.999994	D;P;D;D	0.89917	1.0;0.942;1.0;1.0	D;P;D;D	0.97110	1.0;0.682;0.999;0.999	T	0.64024	-0.6504	10	0.72032	D	0.01	-18.6772	16.3103	0.82865	0.0:0.0:1.0:0.0	.	244;538;573;573	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	V	538;573;244;244	ENSP00000262210:G538V;ENSP00000415782:G244V;ENSP00000430092:G244V	ENSP00000262210:G538V	G	+	2	0	CSPP1	68193541	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.468000	0.45102	2.519000	0.84933	0.650000	0.86243	GGA			0.313	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379254.1		NM_024790		T	68030987	G	T	68030987	3	4	96	1	0	0	0	0	1	0	0	0	3964	1174	41	3	1776	3	CSPP1	8	68030987	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	438955	68030987	78333035	272	7057											
BAALC	79870	broad.mit.edu	37	chr8	104153274	104153274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcggccccgaagcgggcgGcctgcactcgggtaagtggc	6	4	17	14	5	0	0	0	0	0	0	1	1	0	0	3	5	3	2	3	5	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:104153274G>T	ENST00000297574.6	+	1	288	c.149G>T	c.(148-150)gGc>gTc	p.G50V	BAALC_ENST00000309982.5_Missense_Mutation_p.G50V|C8orf56_ENST00000436771.1_Intron|C8orf56_ENST00000521246.1_Intron|BAALC_ENST00000330955.5_Missense_Mutation_p.G50V|BAALC_ENST00000438105.2_Missense_Mutation_p.G50V|BAALC_ENST00000306391.6_Missense_Mutation_p.G50V			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	50						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GAAGCGGGCGGCCTGCACTCG	0.751																																					p.G50V													.	BAALC	15		0			c.G149T												3	4	4					8																	104153274		1685	3327	5012	SO:0001583	missense	79870	exon1			CGGGCGGCCTGCA	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.149G>T	8.37:g.104153274G>T	ENSP00000297574:p.Gly50Val		101	0.0198019802	2		140	0.06	8	NM_001024372	0		0	Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37		.	.	.	.	.	.	.	.	.	.	G	19.32	3.804098	0.70682	.	.	ENSG00000164929	ENST00000309982;ENST00000438105;ENST00000297574;ENST00000306391;ENST00000330955	T;T	0.54866	0.86;0.55	4.88	3.94	0.45596	.	0.000000	0.38326	N	0.001733	T	0.44871	0.1314	.	.	.	0.47374	D	0.999401	P	0.40332	0.713	B	0.39562	0.303	T	0.50065	-0.8871	9	0.62326	D	0.03	-6.9953	9.7289	0.40348	0.0:0.1504:0.6942:0.1553	.	50	Q8WXS3-2	.	V	50	ENSP00000312457:G50V;ENSP00000297574:G50V	ENSP00000297574:G50V	G	+	2	0	BAALC	104222450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.046000	0.30354	2.242000	0.73789	0.561000	0.74099	GGC			0.751	BAALC-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000380257.1				T	104153274	G	T	104153274	3	4	96	1	0	0	0	0	1	0	0	0	1279	1203	42	2	151	2	BAALC	8	104153274	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	36122287	104153274	42210748	273	7058											
DCAF13	25879	broad.mit.edu	37	chr8	104438341	104438341	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggccaggctatggagacGaggaagagccattacataca	14	6	13	8	1	0	2	0	0	0	2	0	5	0	3	2	4	3	1	2	4	4	3	rs374721908		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:104438341G>T	ENST00000297579.5	+	4	1169	c.892G>T	c.(892-894)Gag>Tag	p.E298*	DCAF13_ENST00000519682.1_Nonsense_Mutation_p.E142*|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521971.1_Nonsense_Mutation_p.E106*	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	146					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						CTATGGAGACGAGGAAGAGCC	0.323																																					p.E298X													.	DCAF13	66		0			c.G892T												67	70	69					8																	104438341		2203	4300	6503	SO:0001587	stop_gained	25879	exon4			GGAGACGAGGAAG	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.892G>T	8.37:g.104438341G>T	ENSP00000297579:p.Glu298*		181	0	0		245	0.02	4	NM_015420	202	0	1	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Nonsense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212330	0.79240	.	.	ENSG00000164934	ENST00000297579;ENST00000521971;ENST00000519682	.	.	.	5.75	5.75	0.90469	.	0.206685	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-16.0331	13.1886	0.59697	0.0724:0.0:0.9276:0.0	.	.	.	.	X	298;106;142	.	ENSP00000297579:E298X	E	+	1	0	DCAF13	104507517	1.000000	0.71417	0.963000	0.40424	0.672000	0.39443	5.352000	0.66028	2.716000	0.92895	0.655000	0.94253	GAG			0.323	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380797.2		NM_015420		T	104438341	G	T	104438341	4	4	96	1	0	0	0	0	0	1	0	0	4268	1059	37	1	906	1	DCAF13	8	104438341	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	285067	104438341	41925681	274	7059											
NUDCD1	84955	broad.mit.edu	37	chr8	110308689	110308689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccagttccatctgacaagGtaacccaggtagaagatgag	13	9	10	9	0	1	4	0	2	1	2	3	4	3	4	3	2	1	3	3	2	4	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:110308689G>T	ENST00000239690.4	-	3	757	c.383C>A	c.(382-384)aCc>aAc	p.T128N	RP11-122A21.2_ENST00000504175.2_RNA|NUDCD1_ENST00000427660.2_Missense_Mutation_p.T99N	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATCTGACAAGGTAACCCAGGT	0.428																																					p.T128N													.	NUDCD1	58		0			c.C383A												217	198	204					8																	110308689		2203	4300	6503	SO:0001583	missense	84955	exon3			GACAAGGTAACCC	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.383C>A	8.37:g.110308689G>T	ENSP00000239690:p.Thr128Asn		187	0	0		226	0.02	4	NM_032869	45	0	0		Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797107	0.70567	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18174	2.23;2.23	5.84	5.84	0.93424	.	0.052209	0.85682	D	0.000000	T	0.27384	0.0672	L	0.47716	1.5	0.47407	D	0.999417	D;P;D	0.56521	0.976;0.893;0.976	P;B;P	0.49887	0.625;0.293;0.625	T	0.00244	-1.1883	10	0.59425	D	0.04	-0.7667	19.1348	0.93422	0.0:0.0:1.0:0.0	.	41;128;99	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	N	128;99	ENSP00000239690:T128N;ENSP00000410707:T99N	ENSP00000239690:T128N	T	-	2	0	NUDCD1	110377865	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.924000	0.87555	2.779000	0.95612	0.591000	0.81541	ACC			0.428	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380996.1		NM_032869		T	110308689	G	T	110308689	3	4	96	1	0	0	0	0	1	0	0	0	10739	1261	44	3	1400	3	NUDCD1	8	110308689	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5870348	110308689	36055333	275	7060											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457854	110457854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggatactccatttctcaGaggaattatcccaagcagag	13	9	10	9	0	1	2	1	0	1	2	4	5	3	5	2	3	2	1	2	3	4	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:110457854G>T	ENST00000378402.5	+	38	5860	c.5756G>T	c.(5755-5757)aGa>aTa	p.R1919I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1919	IPT/TIG 12.				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)			CCATTTCTCAGAGGAATTATC	0.348										HNSCC(38;0.096)																											p.R1919I													.	PKHD1L1	522		0			c.G5756T												19	18	18					8																	110457854		1831	4090	5921	SO:0001583	missense	93035	exon38			TTCTCAGAGGAAT	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.5756G>T	8.37:g.110457854G>T	ENSP00000367655:p.Arg1919Ile		206	0	0		288	0.01	3	NM_177531	0		0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	3.685	-0.064814	0.07273	.	.	ENSG00000205038	ENST00000378402	T	0.77489	-1.1	6.03	-3.53	0.04667	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.612949	0.17623	N	0.167651	T	0.64427	0.2597	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.52064	-0.8625	10	0.38643	T	0.18	.	9.4803	0.38898	0.68:0.1219:0.1981:0.0	.	1919	Q86WI1	PKHL1_HUMAN	I	1919	ENSP00000367655:R1919I	ENSP00000367655:R1919I	R	+	2	0	PKHD1L1	110527030	0.052000	0.20516	0.005000	0.12908	0.016000	0.09150	-0.314000	0.08092	-0.561000	0.06094	-0.140000	0.14226	AGA			0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381017.1		NM_177531		T	110457854	G	T	110457854	3	4	96	1	0	0	0	0	1	0	0	0	11989	942	33	3	5906	3	PKHD1L1	8	110457854	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	149165	110457854	35906168	276	7061											
PTP4A3	11156	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	142437898	142437898	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgagagcgggatgaagtaCgaggacgccatccagttcat	12	8	13	8	3	1	2	1	2	0	1	2	6	2	4	2	2	2	2	2	2	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:142437898C>T	ENST00000521578.1	+	5	1323	c.378C>T	c.(376-378)taC>taT	p.Y126Y	PTP4A3_ENST00000329397.1_Silent_p.Y126Y|PTP4A3_ENST00000349124.1_Intron|PTP4A3_ENST00000524028.1_Silent_p.Y40Y|PTP4A3_ENST00000520105.1_Intron			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	126	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GGATGAAGTACGAGGACGCCA	0.687																																					p.Y126Y													.	PTP4A3	19		0			c.C378T												48	37	41					8																	142437898		2117	4194	6311	SO:0001819	synonymous_variant	11156	exon4			GAAGTACGAGGAC	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.378C>T	8.37:g.142437898C>T			35	0	0		61	0.08	5	NM_032611	142	0.37	53	Q8IVN5|Q99849|Q9BTW5	Silent	SNP	ENST00000521578.1	37	CCDS6383.1																																																																																					0.687	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378977.1		NM_032611		T	142437898	C	T	142437898	2	4	96	1	0	0	0	0	0	0	0	1	12793	547	19	1		1	PTP4A3	8	142437898	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	31980044	142437898	3926124	277	7062											
NAPRT1	1936	broad.mit.edu	37	chr8	144658885	144658885	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaaggcataggccacaaagGctgcccgctcgcctggatgc	9	5	12	15	2	0	0	0	0	0	0	1	1	0	1	4	4	2	3	4	4	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr8:144658885G>T	ENST00000419152.2	-	0	1452				NAPRT1_ENST00000426292.3_Missense_Mutation_p.A271D|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000449291.2_Missense_Mutation_p.A271D|NAPRT1_ENST00000276844.7_Missense_Mutation_p.A271D|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000435154.3_Missense_Mutation_p.A271D|RP11-661A12.9_ENST00000531730.1_RNA	NM_001130055.2	NP_001123527.1	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)			GGCCACAAAGGCTGCCCGCTC	0.687																																					p.A271D													.	NAPRT1	47		0			c.C812A												16	19	18					8																	144658885		2194	4289	6483	SO:0001628	intergenic_variant	93100	exon6			ACAAAGGCTGCCC	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		8.37:g.144658885G>T			110	0.0090909091	1		113	0.03	3	NM_145201	108	0	0	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000419152.2	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815966	0.70912	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.74947	-0.67;-0.74;-0.86;-0.89;-0.75	4.4	4.4	0.53042	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.053653	0.64402	D	0.000001	D	0.90964	0.7159	H	0.97415	4	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	D	0.94286	0.7524	10	0.87932	D	0	-15.4707	16.1248	0.81383	0.0:0.0:1.0:0.0	.	271;271;271;271	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	D	271	ENSP00000405670:A271D;ENSP00000401508:A271D;ENSP00000341136:A271D;ENSP00000390949:A271D;ENSP00000276844:A271D	ENSP00000276844:A271D	A	-	2	0	NAPRT1	144730028	1.000000	0.71417	0.758000	0.31321	0.267000	0.26476	6.358000	0.73055	2.250000	0.74265	0.643000	0.83706	GCC			0.687	EEF1D-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_032378		T	144658885	G	T	144658885	1	4	96	0	1	0	0	0	0	0	0	0	10181	1203	42	2		2	NAPRT1	8	144658885	IGR	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2220987	144658885	1705137	278	7063											
DCAF10	79269	broad.mit.edu	37	chr9	37861267	37861267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaagaactttgcttcaGccccgatggacgaatgattt	12	11	8	10	2	2	2	2	1	0	1	2	5	2	3	2	1	3	1	2	1	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:37861267G>T	ENST00000377724.3	+	7	1807	c.1442G>T	c.(1441-1443)aGc>aTc	p.S481I	DCAF10_ENST00000242323.7_Missense_Mutation_p.S444I|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_3'UTR	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	481					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CTTTGCTTCAGCCCCGATGGA	0.483																																					p.S481I													.	DCAF10	31		0			c.G1442T												127	114	118					9																	37861267		2203	4300	6503	SO:0001583	missense	79269	exon7			GCTTCAGCCCCGA	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	23686	protein-coding gene	gene with protein product			"WD repeat domain 32"	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1442G>T	9.37:g.37861267G>T	ENSP00000366953:p.Ser481Ile		128	0	0		110	0.03	3	NM_024345	38	0	0	A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589837	0.86851	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.01933	4.55;4.55	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.85130	0.975;0.997	T	0.00956	-1.1501	10	0.87932	D	0	.	17.2476	0.87032	0.0:0.0:1.0:0.0	.	444;481	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	I	481;444	ENSP00000366953:S481I;ENSP00000242323:S444I	ENSP00000242323:S444I	S	+	2	0	DCAF10	37851267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.413000	0.97351	2.690000	0.91761	0.655000	0.94253	AGC			0.483	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052485.2		NM_024345		T	37861267	G	T	37861267	3	4	96	1	0	0	0	0	1	0	0	0	4263	971	34	2	1468	2	DCAF10	9	37861267	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		37861267	103352164	279	7064											
MURC	347273	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	103340815	103340815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataatgaagaaaaacaaattCcgcgtggtaatattccaggt	17	10	8	6	2	0	2	0	1	0	1	2	2	2	2	2	2	1	1	2	2	7	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:103340815C>T	ENST00000307584.5	+	1	455	c.390C>T	c.(388-390)ttC>ttT	p.F130F	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.F130L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AAAACAAATTCCGCGTGGTAA	0.383																																					p.F130F													MURC,caecum,carcinoma,0,1	MURC	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C390T												39	40	39					9																	103340815		2202	4296	6498	SO:0001819	synonymous_variant	347273	exon1			CAAATTCCGCGTG	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.390C>T	9.37:g.103340815C>T			210	0.0047619048	1		234	0.11	25	NM_001018116	0		0	B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	CCDS35083.1																																																																																					0.383	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053419.2		NM_001018116		T	103340815	C	T	103340815	2	4	96	1	0	0	0	0	0	0	0	1	10003	854	30	3		3	MURC	9	103340815	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	65479548	103340815	37872616	280	7065											
RNF20	56254	broad.mit.edu	37	chr9	104307104	104307104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctttcctcgcacaggaGaatatgaggctacaggaatt	13	10	9	9	1	1	2	0	1	1	1	3	4	2	3	1	3	2	2	1	3	5	4	rs372537878		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:104307104G>T	ENST00000389120.3	+	6	774	c.684G>T	c.(682-684)gaG>gaT	p.E228D		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	228					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCGCACAGGAGAATATGAGGC	0.438																																					p.E228D													RNF20,NS,carcinoma,+2,1	RNF20	110	1	0			c.G684T												126	127	127					9																	104307104		2203	4300	6503	SO:0001583	missense	56254	exon6			ACAGGAGAATATG	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.684G>T	9.37:g.104307104G>T	ENSP00000373772:p.Glu228Asp		78	0	0		66	0.05	3	NM_019592	19	0	0	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208565	0.58343	.	.	ENSG00000155827	ENST00000389120	T	0.77750	-1.12	5.86	4.03	0.46877	.	0.092939	0.64402	D	0.000001	T	0.72969	0.3527	L	0.58510	1.815	0.48571	D	0.999673	B	0.17852	0.024	B	0.12837	0.008	T	0.68345	-0.5433	10	0.42905	T	0.14	-29.0785	12.2043	0.54342	0.1384:0.0:0.8616:0.0	.	228	Q5VTR2	BRE1A_HUMAN	D	228	ENSP00000373772:E228D	ENSP00000373772:E228D	E	+	3	2	RNF20	103346925	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	0.461000	0.21940	0.940000	0.37473	0.650000	0.86243	GAG			0.438	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356402.1		NM_019592		T	104307104	G	T	104307104	3	4	96	1	0	0	0	0	1	0	0	0	13496	933	33	3	702	3	RNF20	9	104307104	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	966289	104307104	36906327	281	7066											
BSPRY	54836	broad.mit.edu;mdanderson.org	37	chr9	116116549	116116549	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaccagtgtgagaggctGcagttacagagtgctgccat	9	9	15	8	0	0	2	0	1	0	2	0	4	0	3	2	2	4	4	2	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:116116549G>T	ENST00000374183.4	+	2	270	c.231G>T	c.(229-231)ctG>ctT	p.L77L	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	77					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						GTGAGAGGCTGCAGTTACAGA	0.502																																					p.L77L													.	BSPRY	21		0			c.G231T												126	132	130					9																	116116549		2104	4236	6340	SO:0001819	synonymous_variant	54836	exon2			GAGGCTGCAGTTA	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.231G>T	9.37:g.116116549G>T			127	0	0		119	0.04	5	NM_017688	6	0	0	B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Silent	SNP	ENST00000374183.4	37	CCDS43868.1																																																																																					0.502	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055399.1		NM_017688		T	116116549	G	T	116116549	2	4	96	1	0	0	0	0	0	0	0	1	1534	1306	46	2		2	BSPRY	9	116116549	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	11809445	116116549	25096882	282	7067											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123292347	123292347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaggacatgccatctgaGatttctcctctttaaggcac	10	12	7	12	0	4	1	1	1	3	1	5	3	4	2	2	2	1	1	2	2	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:123292347G>T	ENST00000349780.4	-	8	913	c.734C>A	c.(733-735)tCt>tAt	p.S245Y	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S245Y|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S245Y|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S245Y	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	245					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGCCATCTGAGATTTCTCCTC	0.408																																					p.S245Y													.	CDK5RAP2	157		0			c.C734A												166	144	152					9																	123292347		2203	4300	6503	SO:0001583	missense	55755	exon8			ATCTGAGATTTCT	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.734C>A	9.37:g.123292347G>T	ENSP00000343818:p.Ser245Tyr		153	0.0065359477	1		171	0.04	6	NM_018249	5	0	0	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095897	0.76870	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.04049	3.85;3.72;3.81;3.72	5.3	5.3	0.74995	.	0.239741	0.29653	N	0.011546	T	0.18923	0.0454	L	0.60455	1.87	0.43183	D	0.995	D;D;D;D	0.89917	1.0;1.0;0.98;1.0	D;D;P;D	0.91635	0.999;0.999;0.782;0.997	T	0.00128	-1.2018	10	0.54805	T	0.06	.	16.7283	0.85429	0.0:0.0:1.0:0.0	.	46;245;245;245	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	Y	245;245;245;245;247	ENSP00000354065:S245Y;ENSP00000352258:S245Y;ENSP00000343818:S245Y;ENSP00000353317:S245Y	ENSP00000341695:S247Y	S	-	2	0	CDK5RAP2	122332168	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.166000	0.58203	2.471000	0.83476	0.563000	0.77884	TCT			0.408	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000055535.1		NM_018249		T	123292347	G	T	123292347	3	4	96	1	0	0	0	0	1	0	0	0	3148	942	33	3	5071	3	CDK5RAP2	9	123292347	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7175798	123292347	17921084	283	7068											
C9orf117	286207	broad.mit.edu	37	chr9	130471761	130471761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttccgccaggagtttgaGcagctggccaataacaagaa	13	8	11	9	1	0	2	0	1	0	1	1	3	1	3	3	2	3	4	3	2	4	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:130471761G>T	ENST00000373295.2	+	2	262	c.222G>T	c.(220-222)gaG>gaT	p.E74D	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	74										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGAGTTTGAGCAGCTGGCCA	0.592																																					p.E74D													.	C9orf117	21		0			c.G222T												51	53	52					9																	130471761		2101	4243	6344	SO:0001583	missense	286207	exon2			GTTTGAGCAGCTG	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.222G>T	9.37:g.130471761G>T	ENSP00000362392:p.Glu74Asp		177	0.0056497175	1		166	0.03	5	NM_001012502	3	0	0	A5D8T9	Missense_Mutation	SNP	ENST00000373295.2	37	CCDS43878.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559422	0.27827	.	.	ENSG00000160401	ENST00000373295	T	0.43688	0.94	5.12	-2.64	0.06114	.	0.334755	0.35615	N	0.003085	T	0.28333	0.0700	L	0.55834	1.745	0.80722	D	1	B	0.33379	0.41	B	0.29524	0.103	T	0.02398	-1.1165	10	0.33940	T	0.23	-16.3661	6.8713	0.24123	0.2328:0.3567:0.4105:0.0	.	74	Q5JU67	CI117_HUMAN	D	74	ENSP00000362392:E74D	ENSP00000362392:E74D	E	+	3	2	C9orf117	129511582	0.998000	0.40836	0.870000	0.34147	0.673000	0.39480	0.259000	0.18405	-0.502000	0.06596	-0.416000	0.06073	GAG			0.592	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054215.2		NM_001012502		T	130471761	G	T	130471761	3	4	96	1	0	0	0	0	1	0	0	0	2453	962	34	2	228	2	C9orf117	9	130471761	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7179414	130471761	10741670	284	7069											
NOTCH1	4851	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr9	139399283	139399283	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagctcctcctcgcggccGtagtaggggaagatcatctg	7	8	13	13	4	2	1	1	0	1	1	5	2	4	2	3	3	1	4	3	3	3	2	rs375196212		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr9:139399283G>T	ENST00000277541.6	-	26	4935	c.4860C>A	c.(4858-4860)taC>taA	p.Y1620*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1620					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1610_R1634>(2)|p.A1611_A1636>A(1)|p.D1610_R1634del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCGCGGCCGTAGTAGGGGA	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.Y1620X				Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	.			4	Complex - deletion inframe(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(4)	c.C4860A												13	17	16					9																	139399283		2096	4204	6300	SO:0001587	stop_gained	4851	exon26			GCGGCCGTAGTAG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4860C>A	9.37:g.139399283G>T	ENSP00000277541:p.Tyr1620*		56	0	0		71	0.06	4	NM_017617	13	0	0	Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	45	11.389522	0.99555	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.4	-1.59	0.08453	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.939	0.47262	0.5972:0.0:0.4028:0.0	.	.	.	.	X	1620	.	ENSP00000277541:Y1620X	Y	-	3	2	NOTCH1	138519104	0.933000	0.31639	0.996000	0.52242	0.754000	0.42855	0.081000	0.14823	-0.197000	0.10350	-0.234000	0.12200	TAC			0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055087.1		NM_017617		T	139399283	G	T	139399283	4	4	96	1	0	0	0	0	0	1	0	0	10564	1140	40	1	2843	1	NOTCH1	9	139399283	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8927522	139399283	1814148	285	7070											
LARP4B	23185	broad.mit.edu;bcgsc.ca	37	chr10	871022	871031	+	Frame_Shift_Del	DEL	AGGAGAGGAT	AGGAGAGGAT	-																															caccttcccctccctaaaccAggagaggattcgagactgcc																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	AGGAGAGGAT	AGGAGAGGAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:871022_871031delAGGAGAGGAT	ENST00000316157.3	-	12	1498_1507	c.1458_1467delATCCTCTCCT	c.(1456-1467)gaatcctctcctfs	p.ESSP486fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	486					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCCCTAAACCAGGAGAGGATTCGAGACTGC	0.419																																					p.486_489del													.	LARP4B	110		0			c.1458_1467del																																									SO:0001589	frameshift_variant	23185	exon13			TAAACCAGGAGAG	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1458_1467delATCCTCTCCT	10.37:g.871022_871031delAGGAGAGGAT	ENSP00000326128:p.Glu486fs		56	0	0		37	0.27	10	NM_015155	15	0	0	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	ENST00000316157.3	37	CCDS31131.1																																																																																					0.419	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046395.2		NM_015155		-	871031	AGGAGAGGAT	-	871022	7	5	96	1	0	1	0	1	0	0	0	0	8646	175	7	0	773	0	LARP4B	10	871022	Frame_Shift_Del	DEL	AGGAGAGGAT	TCGA-VF-A8A8-01A-11D-A435-10		871022	134663725	286	7071											
LARP4B	23185	hgsc.bcm.edu;bcgsc.ca	37	chr10	871042	871045	+	Frame_Shift_Del	DEL	CTGG	CTGG	-																															aggagaggattcgagactgcCtggctccacacgcccaggcc																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	CTGG	CTGG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:871042_871045delCTGG	ENST00000316157.3	-	12	1484_1487	c.1444_1447delCCAG	c.(1444-1449)ccaggcfs	p.PG482fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	482					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCGAGACTGCCTGGCTCCACACGC	0.451																																					p.482_483del													.	LARP4B	110		0			c.1445_1448del																																									SO:0001589	frameshift_variant	23185	exon13			GACTGCCTGGCTC	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1444_1447delCCAG	10.37:g.871042_871045delCTGG	ENSP00000326128:p.Pro482fs		68	0	0		53	0.36	19	NM_015155	6	0	0	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	ENST00000316157.3	37	CCDS31131.1																																																																																					0.451	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046395.2		NM_015155		-	871045	CTGG	-	871042	7	5	96	1	0	1	0	1	0	0	0	0	8646	681	24	0	793	0	LARP4B	10	871042	Frame_Shift_Del	DEL	CTGG	TCGA-VF-A8A8-01A-11D-A435-10	20	871042	134663705	287	7072											
MASTL	84930	broad.mit.edu	37	chr10	27475370	27475370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctgcagcatcagactatgCctttcatcccccagccagat	10	10	6	15	0	3	2	2	0	1	2	4	2	4	2	4	0	4	2	4	0	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:27475370C>T	ENST00000375940.4	+	12	2602	c.2545C>T	c.(2545-2547)Cct>Tct	p.P849S	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.P848S|MASTL_ENST00000342386.6_Missense_Mutation_p.P810S			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	849	AGC-kinase C-terminal.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAGACTATGCCTTTCATCCC	0.408																																					p.P849S													.	MASTL	81		0			c.C2545T												159	146	151					10																	27475370		2203	4300	6503	SO:0001583	missense	84930	exon12			ACTATGCCTTTCA	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2545C>T	10.37:g.27475370C>T	ENSP00000365107:p.Pro849Ser		191	0	0		182	0.03	5	NM_001172303	89	0	0	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482401	0.96307	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.21361	2.01;2.01;2.01	5.63	5.63	0.86233	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	M	0.66297	2.02	0.80722	D	1	D;P;D	0.89917	0.957;0.93;1.0	P;P;D	0.91635	0.59;0.496;0.999	T	0.35871	-0.9771	10	0.52906	T	0.07	-23.7638	19.6846	0.95976	0.0:1.0:0.0:0.0	.	810;849;848	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	S	848;810;849	ENSP00000365113:P848S;ENSP00000343446:P810S;ENSP00000365107:P849S	ENSP00000343446:P810S	P	+	1	0	MASTL	27515376	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.511000	0.81718	2.644000	0.89710	0.655000	0.94253	CCT			0.408	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047320.1		NM_032844		T	27475370	C	T	27475370	3	4	96	1	0	0	0	0	1	0	0	0	9344	739	26	2	2591	2	MASTL	10	27475370	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	26604328	27475370	108059377	288	7073											
SVIL	6840	broad.mit.edu	37	chr10	29754613	29754613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggtacacaaactctgtgGctgcaaaatccccagaggag	13	6	11	11	0	1	1	0	0	1	1	2	2	2	2	2	3	3	3	2	3	4	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:29754613G>T	ENST00000355867.4	-	34	6796	c.6044C>A	c.(6043-6045)gCc>gAc	p.A2015D	PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.A1589D|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.A929D|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.A2015D	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2015					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)				AAACTCTGTGGCTGCAAAATC	0.547																																					p.A2015D													.	SVIL	226		0			c.C6044A												35	39	38					10																	29754613		2203	4300	6503	SO:0001583	missense	6840	exon34			TCTGTGGCTGCAA	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.6044C>A	10.37:g.29754613G>T	ENSP00000348128:p.Ala2015Asp		358	0.0055865922	2		329	0.01	3	NM_021738	23	0	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000226	0.54147	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	4.72	4.72	0.59763	.	0.046770	0.85682	D	0.000000	T	0.65933	0.2739	M	0.87180	2.865	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.974	D;D;P	0.78314	0.991;0.984;0.837	T	0.72350	-0.4320	10	0.56958	D	0.05	-21.7733	17.8597	0.88777	0.0:0.0:1.0:0.0	.	929;1589;2015	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	D	1589;2015;2015;929	ENSP00000364549:A1589D;ENSP00000364547:A2015D;ENSP00000348128:A2015D;ENSP00000445472:A929D	ENSP00000348128:A2015D	A	-	2	0	SVIL	29794619	1.000000	0.71417	0.982000	0.44146	0.012000	0.07955	5.987000	0.70571	2.428000	0.82296	0.650000	0.86243	GCC			0.547	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047395.1				T	29754613	G	T	29754613	3	4	96	1	0	0	0	0	1	0	0	0	15444	1203	42	2	620	2	SVIL	10	29754613	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2279243	29754613	105780134	289	7074											
SVIL	6840	broad.mit.edu	37	chr10	29812745	29812745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcgctaccctctaccaaaGgctgccaagcttgcgatttc	8	11	7	15	2	2	0	0	0	2	0	4	1	2	0	3	1	5	3	3	1	4	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:29812745G>T	ENST00000355867.4	-	15	3550	c.2798C>A	c.(2797-2799)cCt>cAt	p.P933H	SVIL_ENST00000375400.3_Missense_Mutation_p.P507H|SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375398.2_Missense_Mutation_p.P933H	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	933					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)				CTCTACCAAAGGCTGCCAAGC	0.443																																					p.P933H													.	SVIL	226		0			c.C2798A												181	160	167					10																	29812745		2203	4300	6503	SO:0001583	missense	6840	exon15			ACCAAAGGCTGCC	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.2798C>A	10.37:g.29812745G>T	ENSP00000348128:p.Pro933His		182	0	0		137	0.04	5	NM_021738	3	0	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397897	0.42512	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.12465	2.68;2.7;2.7	5.57	4.67	0.58626	.	0.193739	0.45606	D	0.000345	T	0.34745	0.0908	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	T	0.05517	-1.0880	9	.	.	.	-6.9752	12.6851	0.56944	0.0759:0.0:0.9241:0.0	.	507;933	O95425-2;O95425	.;SVIL_HUMAN	H	507;933;933	ENSP00000364549:P507H;ENSP00000364547:P933H;ENSP00000348128:P933H	.	P	-	2	0	SVIL	29852751	1.000000	0.71417	0.862000	0.33874	0.066000	0.16364	4.233000	0.58651	1.362000	0.46000	0.655000	0.94253	CCT			0.443	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047395.1				T	29812745	G	T	29812745	3	4	96	1	0	0	0	0	1	0	0	0	15444	1000	35	3	3942	3	SVIL	10	29812745	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	58132	29812745	105722002	290	7075											
SVIL	6840	hgsc.bcm.edu	37	chr10	29813507	29813508	+	Frame_Shift_Ins	INS	-	-	G																															aatcgcttttgagactggctINSgggacaatttgttaaacaag																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:29813507_29813508insG	ENST00000355867.4	-	14	3231_3232	c.2479_2480insC	c.(2479-2481)cagfs	p.Q827fs	SVIL_ENST00000375400.3_Frame_Shift_Ins_p.Q401fs|SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375398.2_Frame_Shift_Ins_p.Q827fs	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	827					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)				TGAGACTGGCTGGGACAATTTG	0.495																																					p.Q827fs													.	SVIL	226		0			c.2480_2481insC																																									SO:0001589	frameshift_variant	6840	exon14			ACTGGCTGGGACA	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.2480dupC	10.37:g.29813510_29813510dupG	ENSP00000348128:p.Gln827fs		167	0	0		171	0.06	10	NM_021738	1	0	0	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Ins	INS	ENST00000355867.4	37	CCDS7164.1																																																																																					0.495	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047395.1				G	29813508	-	G	29813507	7	5	96	1	0	1	1	0	0	0	0	0	15444	1580	55	0	4264	0	SVIL	10	29813507	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	762	29813507	105721240	291	7076											
ANXA8L2	728113	broad.mit.edu	37	chr10	47756087	47756087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcactggccctccaagacGcacaggtgaggctgcgccca	8	4	13	16	3	0	2	0	1	0	1	1	2	1	2	3	4	1	3	3	4	1	0	rs138417320		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:47756087G>A	ENST00000374277.5	+	7	669	c.547G>A	c.(547-549)Gca>Aca	p.A183T	AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000449464.2_3'UTR|ANXA8L2_ENST00000340243.6_Missense_Mutation_p.A164T|ANXA8L2_ENST00000538825.1_Missense_Mutation_p.A121T	NM_001630.2	NP_001621.2														endometrium(1)|pancreas(1)	2						CCTCCAAGACGCACAGGTGAG	0.652																																					p.A183T													.	ANXA8L2	8		0			c.G547A							G	THR/ALA	1,4395		0,1,2197	136	144	141		547	1.8	1	10	dbSNP_134	141	0,8600		0,0,4300	no	missense	ANXA8L2	NM_001630.2	58	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	183/328	47756087	1,12995	2198	4300	6498	SO:0001583	missense	244	exon7			CAAGACGCACAGG																												ENST00000374277.5:c.547G>A	10.37:g.47756087G>A	ENSP00000363395:p.Ala183Thr		815	0.0061349693	5		852	0.01	11	NM_001630	2	0	0		Missense_Mutation	SNP	ENST00000374277.5	37	CCDS7216.1	.	.	.	.	.	.	.	.	.	.	.	14.68	2.606814	0.46527	2.27E-4	0.0	ENSG00000186807	ENST00000340243;ENST00000374277;ENST00000538825	T;T;T	0.09538	2.97;2.97;2.97	1.76	1.76	0.24704	.	0.000000	0.64402	D	0.000013	T	0.35537	0.0935	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.991	T	0.28332	-1.0047	10	0.87932	D	0	.	7.1177	0.25427	0.0:0.0:1.0:0.0	.	126;164;183	B4DTF2;Q5VT79-2;Q5VT79	.;.;AXA82_HUMAN	T	164;183;121	ENSP00000339264:A164T;ENSP00000363395:A183T;ENSP00000440742:A121T	ENSP00000339264:A164T	A	+	1	0	ANXA8L2	47226093	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	4.826000	0.62715	1.340000	0.45581	0.274000	0.19336	GCA			0.652	ANXA8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047866.1				A	47756087	G	A	47756087	3	1	96	1	0	0	0	0	1	0	0	0	724	1087	38	1	573	1	ANXA8L2	10	47756087	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	17942580	47756087	87778660	292	7077											
PCDH15	65217	broad.mit.edu	37	chr10	55568542	55568542	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacgctggtacctgataGccccatggacctccagactg	9	9	9	14	1	1	2	1	1	0	1	2	3	2	3	5	2	3	2	5	2	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:55568542G>T	ENST00000395445.1	-	36	5662	c.5268C>A	c.(5266-5268)ggC>ggA	p.G1756G	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Silent_p.G952G|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Silent_p.G690G|PCDH15_ENST00000395442.1_Silent_p.G621G|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				GTACCTGATAGCCCCATGGAC	0.478										HNSCC(58;0.16)																											.													.	PCDH15	1715		0			.												131	108	115					10																	55568542		1568	3582	5150	SO:0001819	synonymous_variant	65217	.			CTGATAGCCCCAT	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	ENST00000395445.1:c.5268C>A	10.37:g.55568542G>T			232	0.0129310345	3		190	0.02	3	.	0		0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395445.1	37																																																																																						0.478	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000291335.1		NM_033056		T	55568542	G	T	55568542	2	4	96	1	0	0	0	0	0	0	0	1	11528	958	34	2		2	PCDH15	10	55568542	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7812455	55568542	79966205	293	7078											
ANK3	288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	61815643	61815643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtttcagagtttcctTggtactctgttttcctacat	5	21	7	8	0	2	1	1	0	1	1	4	1	4	1	2	2	2	4	2	2	2	9			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:61815643T>C	ENST00000280772.2	-	42	13029	c.12838A>G	c.(12838-12840)Aag>Gag	p.K4280E	ANK3_ENST00000355288.2_Missense_Mutation_p.K904E|ANK3_ENST00000373827.2_Missense_Mutation_p.K1764E|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000503366.1_Missense_Mutation_p.K1771E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4280					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						AGAGTTTCCTTGGTACTCTGT	0.388																																					p.K4280E													.	.			0			c.A12838G												215	211	212					10																	61815643		2203	4300	6503	SO:0001583	missense	288	exon42			TTTCCTTGGTACT	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.12838A>G	10.37:g.61815643T>C	ENSP00000280772:p.Lys4280Glu		143	0	0		120	0.53	63	NM_020987	14	0.5	7	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047484	0.75846	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.72282	-0.3;-0.64;0.41;0.42;0.14;-0.63	6.03	6.03	0.97812	.	0.000000	0.44285	D	0.000477	T	0.73768	0.3629	N	0.24115	0.695	0.80722	D	1	B;B;B;P;B;B;D	0.58268	0.256;0.088;0.256;0.94;0.062;0.088;0.982	B;B;B;P;B;B;D	0.67548	0.037;0.023;0.037;0.761;0.051;0.023;0.952	T	0.71447	-0.4590	10	0.25751	T	0.34	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	1771;904;1764;4280;1005;904;303	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	E	4280;1764;362;52;904;1771;1750;1005	ENSP00000280772:K4280E;ENSP00000362933:K1764E;ENSP00000362926:K362E;ENSP00000423057:K52E;ENSP00000347436:K904E;ENSP00000425236:K1771E	ENSP00000280772:K4280E	K	-	1	0	ANK3	61485649	1.000000	0.71417	0.912000	0.35992	0.798000	0.45092	3.823000	0.55715	2.313000	0.78055	0.454000	0.30748	AAG			0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048201.4		NM_020987		C	61815643	T	C	61815643	3	2	96	1	0	0	0	0	1	0	0	0	622	1821	63	4	303	4	ANK3	10	61815643	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	6247101	61815643	73719104	294	7079											
DLG5	9231	mdanderson.org	37	chr10	79613279	79613279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtctggtcactcaggaGccggctgtggagtgtgctga	6	9	16	10	2	3	1	2	1	1	0	3	4	3	3	2	4	2	2	2	4	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:79613279G>T	ENST00000372391.2	-	5	702	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	DLG5_ENST00000372388.2_Missense_Mutation_p.L233I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	233					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)			TCACTCAGGAGCCGGCTGTGG	0.647																																					p.L233I													.	.			0			c.C697A												38	32	34					10																	79613279		2203	4300	6503	SO:0001583	missense	9231	exon5			TCAGGAGCCGGCT	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.697C>A	10.37:g.79613279G>T	ENSP00000361467:p.Leu233Ile		24	0	0		21	0.1	2	NM_004747	0		0	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658949	0.47467	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.05717	3.4;3.4	4.6	4.6	0.57074	.	0.000000	0.33364	N	0.004986	T	0.06645	0.0170	L	0.51422	1.61	0.27257	N	0.958746	P	0.51057	0.941	B	0.36244	0.22	T	0.30327	-0.9982	10	0.42905	T	0.14	.	12.8541	0.57876	0.0:0.0:0.8369:0.1631	.	233	Q8TDM6	DLG5_HUMAN	I	233	ENSP00000361467:L233I;ENSP00000361464:L233I	ENSP00000361464:L233I	L	-	1	0	DLG5	79283285	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.697000	0.61782	2.266000	0.75297	0.655000	0.94253	CTC			0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048900.2				T	79613279	G	T	79613279	3	4	96	1	0	0	0	0	1	0	0	0	4563	971	34	2	5174	2	DLG5	10	79613279	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	17797636	79613279	55921468	295	7080											
PLCE1	51196	broad.mit.edu	37	chr10	95791638	95791638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttgacatggtatattcaGgtgatagcttttgtaggaaa	12	14	12	3	0	1	2	1	2	0	0	1	3	1	3	0	4	1	4	0	4	5	8			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:95791638G>T	ENST00000371380.3	+	1	1070	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	PLCE1_ENST00000260766.3_Missense_Mutation_p.G279C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	279					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)				GGTATATTCAGGTGATAGCTT	0.388																																					p.G279C													.	PLCE1	543		0			c.G835T												138	131	133					10																	95791638		1899	4114	6013	SO:0001583	missense	51196	exon2			TATTCAGGTGATA		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.835G>T	10.37:g.95791638G>T	ENSP00000360431:p.Gly279Cys		230	0.0086956522	2		225	0.02	5	NM_016341	0		0	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	g	4.245	0.044405	0.08196	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.38887	1.11;1.11	4.98	0.138	0.14793	Ras guanine nucleotide exchange factor, domain (1);	0.620691	0.15304	N	0.269482	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	0.999999	P;P	0.40660	0.726;0.726	B;B	0.32980	0.156;0.156	T	0.09818	-1.0657	10	0.56958	D	0.05	.	8.9409	0.35729	0.5196:0.0:0.4804:0.0	.	279;279	B7ZM61;Q9P212	.;PLCE1_HUMAN	C	279	ENSP00000260766:G279C;ENSP00000360431:G279C	ENSP00000260766:G279C	G	+	1	0	PLCE1	95781628	0.620000	0.27068	0.223000	0.23860	0.003000	0.03518	0.256000	0.18351	0.049000	0.15920	-0.285000	0.09966	GGT			0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049469.3		NM_016341		T	95791638	G	T	95791638	3	4	96	1	0	0	0	0	1	0	0	0	12051	1000	35	3	837	3	PLCE1	10	95791638	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	16178359	95791638	39743109	296	7081											
PDLIM1	9124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	96997861	96997861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggtcccgcagcttcacaaAcacaccactacagaagcaag	15	4	7	15	2	1	1	1	0	0	1	2	1	2	1	2	1	4	3	2	1	4	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:96997861A>G	ENST00000329399.6	-	7	919	c.811T>C	c.(811-813)Ttt>Ctt	p.F271L	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	271	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		AGCTTCACAAACACACCACTA	0.572																																					p.F271L													.	.			0			c.T811C												56	48	51					10																	96997861		2203	4300	6503	SO:0001583	missense	9124	exon7			TCACAAACACACC	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.811T>C	10.37:g.96997861A>G	ENSP00000360305:p.Phe271Leu		74	0	0		66	0.47	31	NM_020992	421	0.43	180	B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.875295	0.33162	.	.	ENSG00000107438	ENST00000329399	T	0.39229	1.09	5.62	4.42	0.53409	Zinc finger, LIM-type (5);	0.207577	0.52532	D	0.000062	T	0.44850	0.1313	M	0.73430	2.235	0.47862	D	0.999531	B	0.29835	0.258	B	0.32980	0.156	T	0.46527	-0.9185	10	0.42905	T	0.14	-14.3831	11.6849	0.51481	0.8522:0.1478:0.0:0.0	.	271	O00151	PDLI1_HUMAN	L	271	ENSP00000360305:F271L	ENSP00000360305:F271L	F	-	1	0	PDLIM1	96987851	1.000000	0.71417	0.978000	0.43139	0.114000	0.19823	2.155000	0.42301	2.138000	0.66242	0.533000	0.62120	TTT			0.572	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049508.1				G	96997861	A	G	96997861	3	3	96	1	0	0	0	0	1	0	0	0	11696	43	2	4	182	4	PDLIM1	10	96997861	Missense_Mutation	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	1206223	96997861	38536886	297	7082											
PGAM1	5223	broad.mit.edu	37	chr10	99186071	99186071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcccgccgccatggccGcctacaaactggtgctgatc	7	6	10	18	3	0	1	0	1	0	0	1	1	0	1	6	2	4	1	6	2	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:99186071G>T	ENST00000334828.5	+	1	155	c.7G>T	c.(7-9)Gcc>Tcc	p.A3S	AL355490.1_ENST00000439965.2_5'Flank	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	3					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CGCCATGGCCGCCTACAAACT	0.706																																					p.A3S													.	PGAM1	11		0			c.G7T												12	15	14					10																	99186071		2003	4038	6041	SO:0001583	missense	5223	exon1			ATGGCCGCCTACA	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"Phosphoglycerate mutase A, nonmuscle form"	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.7G>T	10.37:g.99186071G>T	ENSP00000359991:p.Ala3Ser		216	0.0092592593	2		240	0.02	5	NM_002629	564	0.01	3	Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	G	8.949	0.967652	0.18659	.	.	ENSG00000171314	ENST00000334828	T	0.80566	-1.39	5.03	4.12	0.48240	.	0.000000	0.64402	U	0.000001	T	0.66446	0.2790	N	0.16201	0.385	0.40796	D	0.983292	B;B	0.26147	0.143;0.026	B;B	0.29176	0.099;0.064	T	0.62900	-0.6756	10	0.30078	T	0.28	-39.4485	12.2036	0.54340	0.084:0.0:0.916:0.0	.	3;3	Q0D2Q6;P18669	.;PGAM1_HUMAN	S	3	ENSP00000359991:A3S	ENSP00000359991:A3S	A	+	1	0	PGAM1	99176061	0.969000	0.33509	0.369000	0.25952	0.024000	0.10985	3.213000	0.51153	1.338000	0.45544	0.484000	0.47621	GCC			0.706	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049652.1		NM_002629		T	99186071	G	T	99186071	3	4	96	1	0	0	0	0	1	0	0	0	11790	1087	38	1	9	1	PGAM1	10	99186071	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2188210	99186071	36348676	298	7083											
ANKRD2	26287	broad.mit.edu	37	chr10	99343382	99343382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctggcaggctgatacccGgcacgccctggagcatcctg	6	7	13	15	2	1	1	0	1	1	0	2	2	2	2	3	4	2	5	3	4	1	1	rs566640055		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:99343382G>T	ENST00000307518.5	+	9	1250	c.983G>T	c.(982-984)cGg>cTg	p.R328L	ANKRD2_ENST00000298808.5_Missense_Mutation_p.R295L|PI4K2A_ENST00000370649.3_5'Flank|HOGA1_ENST00000370646.4_5'Flank|ANKRD2_ENST00000455090.1_Missense_Mutation_p.R268L|ANKRD2_ENST00000370655.1_Missense_Mutation_p.R301L|PI4K2A_ENST00000555577.1_5'Flank|HOGA1_ENST00000370647.4_5'Flank			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	328					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCTGATACCCGGCACGCCCTG	0.652																																					p.R328L													.	ANKRD2	27		0			c.G983T																																									SO:0001583	missense	26287	exon9			ATACCCGGCACGC	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.983G>T	10.37:g.99343382G>T	ENSP00000306163:p.Arg328Leu		200	0	0		218	0.03	7	NM_020349	8	0	0	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174469	0.78452	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.67523	0.84;-0.27;0.8;-0.27	5.6	4.67	0.58626	.	0.202610	0.35040	N	0.003481	T	0.68979	0.3060	L	0.29908	0.895	0.37120	D	0.900768	D;P	0.65815	0.995;0.613	P;B	0.60682	0.878;0.172	T	0.74763	-0.3555	10	0.52906	T	0.07	-22.2299	12.8518	0.57862	0.0:0.0:0.8366:0.1634	.	295;328	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	L	328;295;301;268	ENSP00000306163:R328L;ENSP00000298808:R295L;ENSP00000359689:R301L;ENSP00000403114:R268L	ENSP00000298808:R295L	R	+	2	0	ANKRD2	99333372	0.563000	0.26594	0.998000	0.56505	0.834000	0.47266	2.899000	0.48679	1.316000	0.45131	0.561000	0.74099	CGG			0.652	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding						T	99343382	G	T	99343382	3	4	96	1	0	0	0	0	1	0	0	0	647	1116	39	1	1017	1	ANKRD2	10	99343382	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	157311	99343382	36191365	299	7084											
CUEDC2	79004	broad.mit.edu	37	chr10	104183205	104183205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatggaagcggtactttctgGctggcttgaggttgatgtat	8	14	14	5	1	1	2	0	2	1	0	1	3	1	3	0	5	2	5	0	5	4	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr10:104183205G>T	ENST00000369937.4	-	9	987	c.842C>A	c.(841-843)gCc>gAc	p.A281D	PSD_ENST00000492902.2_5'Flank|CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	281						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTACTTTCTGGCTGGCTTGAG	0.572											OREG0020479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A281D													.	CUEDC2	22		0			c.C842A												182	191	188					10																	104183205		2073	4218	6291	SO:0001583	missense	79004	exon9			TTTCTGGCTGGCT	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"chromosome 10 open reading frame 66"	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.842C>A	10.37:g.104183205G>T	ENSP00000358953:p.Ala281Asp		231	0.0043290043	1	1379	239	0.03	6	NM_024040	183	0	0	D3DR88|Q9BWG8	Missense_Mutation	SNP	ENST00000369937.4	37	CCDS41566.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305984	0.81247	.	.	ENSG00000107874	ENST00000369937	D	0.89552	-2.53	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.93452	0.7911	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94253	0.7495	10	0.87932	D	0	-11.6533	16.9635	0.86279	0.0:0.0:1.0:0.0	.	281	Q9H467	CUED2_HUMAN	D	281	ENSP00000358953:A281D	ENSP00000358953:A281D	A	-	2	0	CUEDC2	104173195	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	9.214000	0.95140	2.257000	0.74773	0.462000	0.41574	GCC			0.572	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050060.1		NM_024040		T	104183205	G	T	104183205	3	4	96	1	0	0	0	0	1	0	0	0	4055	1203	42	2	25	2	CUEDC2	10	104183205	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4839823	104183205	31351542	300	7085											
CCKBR	887	broad.mit.edu	37	chr11	6291057	6291057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtcagcgacctcctgctgGctgtggcttgcatgcccttc	4	11	11	15	1	1	0	1	0	0	0	3	1	2	0	3	2	4	4	3	2	0	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:6291057G>T	ENST00000334619.2	+	2	503	c.310G>T	c.(310-312)Gct>Tct	p.A104S	CCKBR_ENST00000525462.1_Missense_Mutation_p.A104S|CCKBR_ENST00000525014.1_Missense_Mutation_p.A104S|CCKBR_ENST00000532715.1_Intron	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	104					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)	CCTCCTGCTGGCTGTGGCTTG	0.582																																					p.A104S													.	CCKBR	232		0			c.G310T												129	100	110					11																	6291057		2201	4296	6497	SO:0001583	missense	887	exon2			CTGCTGGCTGTGG	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.310G>T	11.37:g.6291057G>T	ENSP00000335544:p.Ala104Ser		157	0.0063694268	1		147	0.03	5	NM_176875	9	0	0	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067238	0.76301	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.35605	2.11;1.3;2.11	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.063695	0.64402	D	0.000007	T	0.31979	0.0814	L	0.45228	1.405	0.53005	D	0.999969	P;B;B	0.46859	0.885;0.167;0.256	B;B;B	0.42593	0.392;0.126;0.304	T	0.04281	-1.0963	10	0.39692	T	0.17	.	11.8116	0.52185	0.0:0.0:0.8245:0.1755	.	104;38;104	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	S	104	ENSP00000335544:A104S;ENSP00000437001:A104S;ENSP00000435534:A104S	ENSP00000335544:A104S	A	+	1	0	CCKBR	6247633	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.352000	0.44080	2.508000	0.84585	0.557000	0.71058	GCT			0.582	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257230.2		NM_176875		T	6291057	G	T	6291057	3	4	96	1	0	0	0	0	1	0	0	0	2883	1203	42	2	316	2	CCKBR	11	6291057	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		6291057	128715459	301	7086											
MICAL2	9645	broad.mit.edu	37	chr11	12263797	12263797	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggggcacgtgctcagaGagctcaagcaagtgtctgct	9	8	14	10	2	3	2	2	1	1	1	3	3	3	2	0	2	4	5	0	2	2	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:12263797G>T	ENST00000256194.4	+	19	2662	c.2374G>T	c.(2374-2376)Gag>Tag	p.E792*	MICAL2_ENST00000342902.5_Nonsense_Mutation_p.E792*|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	792					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CGTGCTCAGAGAGCTCAAGCA	0.552																																					p.E792X													.	MICAL2	114		0			c.G2374T												47	45	45					11																	12263797		2201	4294	6495	SO:0001587	stop_gained	9645	exon19			CTCAGAGAGCTCA	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2374G>T	11.37:g.12263797G>T	ENSP00000256194:p.Glu792*		113	0	0		89	0.04	4	NM_014632	0		0	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Nonsense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	43	10.104716	0.99337	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	.	.	.	4.88	4.88	0.63580	.	0.250217	0.28921	N	0.013706	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	8.1761	0.31283	0.0845:0.1608:0.7547:0.0	.	.	.	.	X	792	.	ENSP00000256194:E792X	E	+	1	0	MICAL2	12220373	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.680000	0.54641	2.527000	0.85204	0.563000	0.77884	GAG			0.552	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385993.1		NM_014632		T	12263797	G	T	12263797	4	4	96	1	0	0	0	0	0	1	0	0	9586	943	33	3	2440	3	MICAL2	11	12263797	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5972740	12263797	122742719	302	7087											
NAV2	89797	broad.mit.edu;mdanderson.org	37	chr11	19914121	19914121	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacctccccacccccaccGccaagcagccacgagaaagg	11	2	8	20	2	1	1	1	0	0	1	2	2	2	1	8	1	2	1	8	1	2	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:19914121G>T	ENST00000396087.3	+	7	1080	c.981G>T	c.(979-981)ccG>ccT	p.P327P	NAV2_ENST00000360655.4_Silent_p.P240P|NAV2_ENST00000349880.4_Silent_p.P304P|NAV2_ENST00000527559.2_Silent_p.P256P|NAV2_ENST00000540292.1_Silent_p.P258P|NAV2_ENST00000396085.1_Silent_p.P304P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	327	Poly-Pro.				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.P327P(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						CACCCCCACCGCCAAGCAGCC	0.512																																					p.P327P													NAV2,colon,carcinoma,0,1	NAV2	255	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G981T												76	65	69					11																	19914121		2199	4293	6492	SO:0001819	synonymous_variant	89797	exon7			CCCACCGCCAAGC	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.981G>T	11.37:g.19914121G>T			100	0.01	1		94	0.04	4	NM_001244963	1	0	0	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																					0.512	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324112.1		NM_145117		T	19914121	G	T	19914121	2	4	96	1	0	0	0	0	0	0	0	1	10200	1074	38	1		1	NAV2	11	19914121	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7650324	19914121	115092395	303	7088											
NAT10	55226	broad.mit.edu	37	chr11	34149080	34149080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgatgaagctgccgccaTccccctccccttggtgaaga	8	9	10	14	1	0	4	0	3	0	1	2	5	2	4	6	1	2	1	6	1	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	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																																					p.I393T													.	NAT10	78		0			c.T1178C												177	161	167					11																	34149080		2202	4298	6500	SO:0001583	missense	55226	exon12			CCGCCATCCCCCT	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		179	0.0111731844	2		173	0.05	9	NM_024662	43	0	0	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	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		C	34149080	T	C	34149080	3	2	96	1	0	0	0	0	1	0	0	0	10190	1435	50	4	1220	4	NAT10	11	34149080	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	14234959	34149080	100857436	304	7089											
ELF5	2001	broad.mit.edu	37	chr11	34527231	34527231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgaacagatcagtccaCgacatcaggggatcgcagaa	13	7	11	10	2	2	3	2	1	0	2	4	5	3	4	1	2	2	2	1	2	2	1	rs368376316		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:34527231C>T	ENST00000312319.2	-	2	325	c.96G>A	c.(94-96)tcG>tcA	p.S32S	ELF5_ENST00000528709.1_5'UTR|ELF5_ENST00000429939.2_Silent_p.S22S|ELF5_ENST00000532417.1_Silent_p.S22S|ELF5_ENST00000257832.2_Silent_p.S22S	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	32					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GATCAGTCCACGACATCAGGG	0.542																																					p.S32S	Melanoma(61;202 1660 4348 21594)												.	ELF5	21		0			c.G96A							C	,	0,4404		0,0,2202	196	150	165		66,96	1.2	1	11		165	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ELF5	NM_001422.3,NM_198381.1	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	22/256,32/266	34527231	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	2001	exon2			AGTCCACGACATC	AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.96G>A	11.37:g.34527231C>T			160	0.0125	2		137	0.02	3	NM_001243081	0		0	A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	ENST00000312319.2	37	CCDS7892.1																																																																																					0.542	ELF5-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389845.1		NM_198381		T	34527231	C	T	34527231	2	4	96	1	0	0	0	0	0	0	0	1	5064	523	19	1		1	ELF5	11	34527231	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	378151	34527231	100479285	305	7090											
FNBP4	23360	broad.mit.edu	37	chr11	47744591	47744591	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagctggtggtggtggAggaggaggaggaggaggtgg	7	7	26	1	0	0	0	0	0	0	0	0	7	0	7	0	12	1	1	0	12	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		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						gtggtggtggaggaggaggag	0.463																																					p.P914P													FNBP4,NS,carcinoma,0,1	FNBP4	99	1	1	Substitution - coding silent(1)	endometrium(1)	c.T2742A												15	15	15					11																	47744591		1997	4159	6156	SO:0001819	synonymous_variant	23360	exon15			TGGTGGAGGAGGA	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.2742T>A	11.37:g.47744591A>T			66	0.0151515152	1		57	0.05	3	NM_015308	69	0	0	Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	CCDS41644.1																																																																																					0.463	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390237.3				T	47744591	A	T	47744591	2	4	96	1	0	0	0	0	0	0	0	1	5980	291	11	5		5	FNBP4	11	47744591	Silent	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	13217360	47744591	87261925	306	7091											
GPR44	11251	broad.mit.edu;mdanderson.org	37	chr11	60620083	60620083	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagctgcccagcagccaGccgaggagacgcgcggggcc	7	1	17	16	5	0	1	0	0	0	1	0	3	0	1	4	3	5	3	4	3	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:60620083G>T	ENST00000332539.4	-	2	1224	c.1113C>A	c.(1111-1113)ggC>ggA	p.G371G	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	371					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	CCAGCAGCCAGCCGAGGAGAC	0.756																																					p.G371G													.	.			0			c.C1113A												2	3	3					11																	60620083		1664	3338	5002	SO:0001819	synonymous_variant	11251	exon2			CAGCCAGCCGAGG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1113C>A	11.37:g.60620083G>T			15	0	0		12	0.17	2	NM_004778	0		0	O94765|Q4QRI6	Silent	SNP	ENST00000332539.4	37	CCDS7994.1																																																																																					0.756	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396328.1		NM_004778		T	60620083	G	T	60620083	2	4	96	1	0	0	0	0	0	0	0	1	6709	958	34	2		2	GPR44	11	60620083	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	12875492	60620083	74386433	307	7092											
FLRT1	28992	mdanderson.org	37	chr11	63884330	63884330	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcccctcggggctgccGcacacgctggaggagctgcg	6	5	15	15	4	0	0	0	0	0	0	2	2	1	2	3	4	4	5	3	4	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:63884330G>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.P197P|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGGGCTGCCGCACACGCTGG	0.652																																					p.P197P													.	.			0			c.G591T												26	24	25					11																	63884330		2185	4269	6454	SO:0001627	intron_variant	23769	exon2			GCTGCCGCACACG	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34380C>A	11.37:g.63884330G>T			32	0	0		38	0.08	3	NM_013280	1	0	0	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																					0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396570.1		NM_014067		T	63884330	G	T	63884330	1	4	96	0	1	0	0	0	0	0	0	0	5951	1074	38	1		1	FLRT1	11	63884330	Intron	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3264247	63884330	71122186	308	7093											
PYGM	5837	broad.mit.edu	37	chr11	64521405	64521405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtgccgcggcagcagCgtctccaagaggtgcaccgg	7	5	17	12	4	1	1	0	0	1	1	2	2	1	2	3	5	4	3	3	5	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:64521405C>T	ENST00000164139.3	-	10	1583	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	PYGM_ENST00000377432.3_Silent_p.T307T|PYGM_ENST00000462303.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	395					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGGCAGCAGCGTCTCCAAGA	0.652																																					p.T395T													.	PYGM	77		0			c.G1185A												43	40	41					11																	64521405		2198	4292	6490	SO:0001819	synonymous_variant	5837	exon10			CAGCAGCGTCTCC		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1185G>A	11.37:g.64521405C>T			168	0	0		158	0.02	3	NM_005609	1	0	0	A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	CCDS8079.1																																																																																					0.652	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143254.2		NM_005609		T	64521405	C	T	64521405	2	4	96	1	0	0	0	0	0	0	0	1	12885	755	27	1		1	PYGM	11	64521405	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	637075	64521405	70485111	309	7094											
TCIRG1	10312	mdanderson.org	37	chr11	67818094	67818094	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatcctgctggtgatggagGgactctcagccttcctgcac	6	11	11	13	0	1	1	1	1	1	0	4	3	3	3	3	3	3	2	3	3	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:67818094G>T	ENST00000265686.3	+	19	2485	c.2377G>T	c.(2377-2379)Gga>Tga	p.G793*	RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000532635.1_Nonsense_Mutation_p.G577*|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA|TCIRG1_ENST00000530802.1_Intron|CHKA_ENST00000533728.1_5'Flank	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	793					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGTGATGGAGGGACTCTCAGC	0.677																																					p.G793X													.	.			0			c.G2377T												116	114	115					11																	67818094		2200	4294	6494	SO:0001587	stop_gained	10312	exon19			ATGGAGGGACTCT	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2377G>T	11.37:g.67818094G>T	ENSP00000265686:p.Gly793*		45	0.0222222222	1		54	0.06	3	NM_006019	59	0	0	O75877|Q8WVC5	Nonsense_Mutation	SNP	ENST00000265686.3	37	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	42	9.607810	0.99217	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	.	.	.	4.23	1.25	0.21368	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-43.1209	7.8796	0.29614	0.1047:0.0:0.75:0.1453	.	.	.	.	X	793;577	.	ENSP00000265686:G793X	G	+	1	0	TCIRG1	67574670	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	9.369000	0.97156	0.164000	0.19529	0.462000	0.41574	GGA			0.677	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394305.1		NM_006019		T	67818094	G	T	67818094	4	4	96	1	0	0	0	0	0	1	0	0	15726	1233	43	3	2447	3	TCIRG1	11	67818094	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3296689	67818094	67188422	310	7095											
TMEM135	65084	broad.mit.edu	37	chr11	87006865	87006865	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttacattttctgcacttaGgtaagaaacatttattttta	13	19	4	5	0	1	1	0	0	1	1	1	1	1	1	0	1	3	2	0	1	6	11			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:87006865G>T	ENST00000305494.5	+	7	590	c.551G>T	c.(550-552)aGg>aTg	p.R184M	TMEM135_ENST00000340353.7_Splice_Site_p.R162M|TMEM135_ENST00000532959.1_Splice_Site_p.R55M|TMEM135_ENST00000535167.1_Splice_Site_p.R45M	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	184					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTGCACTTAGGTAAGAAACA	0.249																																					p.R184M													.	TMEM135	40		0			c.G551T												73	79	77					11																	87006865		2190	4287	6477	SO:0001630	splice_region_variant	65084	exon7			CACTTAGGTAAGA	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.551+1G>T	11.37:g.87006865G>T			301	0.0066445183	2		334	0.03	9	NM_022918	0		0	Q6AW91|Q8ND01|Q9H6M3	Splice_Site	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482042	0.63849	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.53857	0.77;0.6;0.73;0.62	4.9	4.9	0.64082	.	0.054222	0.64402	D	0.000001	T	0.53367	0.1792	L	0.43152	1.355	0.47547	D	0.999453	P;D	0.54047	0.955;0.964	P;P	0.53593	0.568;0.73	T	0.50882	-0.8775	9	.	.	.	-14.3726	9.3603	0.38192	0.098:0.0:0.902:0.0	.	162;184	Q86UB9-2;Q86UB9	.;TM135_HUMAN	M	162;21;55;184;45	ENSP00000345513:R162M;ENSP00000436179:R55M;ENSP00000306344:R184M;ENSP00000439525:R45M	.	R	+	2	0	TMEM135	86684513	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.247000	0.58750	2.278000	0.76064	0.557000	0.71058	AGG			0.249	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393875.1		NM_022918	Missense_Mutation	T	87006865	G	T	87006865	5	4	96	1	0	0	0	0	0	0	1	0	16074	1014	35	3	577	3	TMEM135	11	87006865	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	19188771	87006865	47999651	311	7096											
BIRC2	329	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	102221221	102221221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagctggtttttattatatAggacctggagatagggtagc	11	13	13	4	0	0	2	0	0	0	2	0	4	0	3	1	4	2	3	1	4	6	8			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:102221221A>G	ENST00000227758.2	+	2	2035	c.636A>G	c.(634-636)atA>atG	p.I212M	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.I163M|BIRC2_ENST00000532672.1_Missense_Mutation_p.I191M	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	212					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTTATTATATAGGACCTGGAG	0.443																																					p.I212M													.	.			0			c.A636G												101	109	107					11																	102221221		2203	4299	6502	SO:0001583	missense	329	exon2			TTATATAGGACCT	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.636A>G	11.37:g.102221221A>G	ENSP00000227758:p.Ile212Met		121	0	0		133	0.09	12	NM_001256163	14	0.21	3	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906370	0.52333	.	.	ENSG00000110330	ENST00000532832;ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.03982	3.74;3.74;3.74;3.74	5.92	2.12	0.27331	Baculoviral inhibition of apoptosis protein repeat (5);	0.520464	0.23598	N	0.046469	T	0.06508	0.0167	L	0.31926	0.97	0.33065	D	0.534669	P	0.40731	0.728	P	0.51615	0.675	T	0.25433	-1.0132	10	0.66056	D	0.02	-9.3362	1.6421	0.02754	0.4629:0.2624:0.148:0.1267	.	212	Q13490	BIRC2_HUMAN	M	54;163;212;212;191	ENSP00000432410:I54M;ENSP00000431723:I163M;ENSP00000227758:I212M;ENSP00000434979:I191M	ENSP00000227758:I212M	I	+	3	3	BIRC2	101726431	0.895000	0.30542	0.956000	0.39512	0.987000	0.75469	0.336000	0.19823	0.480000	0.27534	-0.250000	0.11733	ATA			0.443	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000394170.1		NM_001166		G	102221221	A	G	102221221	3	3	96	1	0	0	0	0	1	0	0	0	1435	410	15	4	638	4	BIRC2	11	102221221	Missense_Mutation	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	15214356	102221221	32785295	312	7097											
BIRC2	329	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	102221245	102221245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggagatagggtagcctgCtttgcctgtggtgggaagct	6	11	16	8	0	0	1	0	0	0	1	0	3	0	2	3	4	4	3	3	4	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:102221245C>T	ENST00000227758.2	+	2	2059	c.660C>T	c.(658-660)tgC>tgT	p.C220C	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Silent_p.C171C|BIRC2_ENST00000532672.1_Silent_p.C199C	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	220					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGGTAGCCTGCTTTGCCTGTG	0.433																																					p.C220C													.	.			0			c.C660T												102	110	108					11																	102221245		2203	4299	6502	SO:0001819	synonymous_variant	329	exon2			AGCCTGCTTTGCC	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.660C>T	11.37:g.102221245C>T			128	0	0		129	0.08	10	NM_001256163	22	0.14	3	B4E026|Q16516|Q4TTG0	Silent	SNP	ENST00000227758.2	37	CCDS8316.1																																																																																					0.433	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000394170.1		NM_001166		T	102221245	C	T	102221245	2	4	96	1	0	0	0	0	0	0	0	1	1435	805	28	2		2	BIRC2	11	102221245	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	24	102221245	32785271	313	7098											
RNF214	257160	broad.mit.edu	37	chr11	117105020	117105020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggttgctggtgttgtggCcaatgcccccagtcctccgg	4	11	14	12	1	0	1	0	1	0	0	2	1	2	1	5	4	2	3	5	4	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:117105020C>T	ENST00000531452.1	+	2	78	c.32C>T	c.(31-33)gCc>gTc	p.A11V	RNF214_ENST00000531287.1_Missense_Mutation_p.A11V|PCSK7_ENST00000320934.3_5'Flank|RNF214_ENST00000300650.4_Missense_Mutation_p.A11V|RNF214_ENST00000530849.1_Missense_Mutation_p.A11V	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	11							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)		GGTGTTGTGGCCAATGCCCCC	0.453																																					p.A11V													.	RNF214	54		0			c.C32T												161	163	162					11																	117105020		1997	4175	6172	SO:0001583	missense	257160	exon2			TTGTGGCCAATGC	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.32C>T	11.37:g.117105020C>T	ENSP00000431643:p.Ala11Val		353	0.0028328612	1		287	0.01	4	NM_207343	13	0	0	B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619166	0.66787	.	.	ENSG00000167257	ENST00000534428;ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.67345	-0.23;0.29;-0.26;0.29	4.86	4.86	0.63082	.	.	.	.	.	T	0.70710	0.3255	N	0.22421	0.69	0.22378	N	0.999153	D;P	0.67145	0.996;0.592	D;B	0.70935	0.971;0.326	T	0.63265	-0.6676	9	0.72032	D	0.01	-1.5049	13.3552	0.60623	0.0:1.0:0.0:0.0	.	11;11	B4DTD1;Q8ND24	.;RN214_HUMAN	V	11	ENSP00000435361:A11V;ENSP00000431643:A11V;ENSP00000432903:A11V;ENSP00000300650:A11V	ENSP00000300650:A11V	A	+	2	0	RNF214	116610230	0.824000	0.29247	0.920000	0.36463	0.992000	0.81027	1.904000	0.39868	2.507000	0.84556	0.655000	0.94253	GCC			0.453	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392884.1		NM_001077239		T	117105020	C	T	117105020	3	4	96	1	0	0	0	0	1	0	0	0	13501	739	26	2	34	2	RNF214	11	117105020	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	14883775	117105020	17901496	314	7099											
SC5DL	6309	broad.mit.edu	37	chr11	121177795	121177795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctcaccatatttggaaGattcctactccatttgcaag	13	12	5	11	0	1	1	1	0	0	1	3	2	3	2	4	1	3	1	4	1	5	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:121177795G>T	ENST00000392789.2	+	5	711	c.474G>T	c.(472-474)aaG>aaT	p.K158N	SC5D_ENST00000528991.1_3'UTR|SC5D_ENST00000534230.1_Missense_Mutation_p.K158N|SC5D_ENST00000264027.4_Missense_Mutation_p.K158N	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	158					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										ATATTTGGAAGATTCCTACTC	0.413																																					p.K158N													.	.			0			c.G474T												283	258	267					11																	121177795		2203	4299	6502	SO:0001583	missense	6309	exon5			TTGGAAGATTCCT		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"Fatty acid hydroxylase domain containing"	10547	protein-coding gene	gene with protein product	"lathosterol oxidase"	602286	"sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.474G>T	11.37:g.121177795G>T	ENSP00000376539:p.Lys158Asn		261	0.0076628352	2		216	0.02	5	NM_001024956	109	0	0	O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236486	0.79800	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.64	5.64	0.86602	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	L	0.48877	1.53	0.54753	D	0.999981	P	0.42078	0.77	P	0.48873	0.593	T	0.80243	-0.1463	10	0.22109	T	0.4	-18.127	11.8879	0.52613	0.0806:0.0:0.9194:0.0	.	158	O75845	SC5D_HUMAN	N	158;165;158;158	ENSP00000264027:K158N;ENSP00000436290:K165N;ENSP00000432550:K158N;ENSP00000376539:K158N	ENSP00000264027:K158N	K	+	3	2	SC5DL	120683005	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.021000	0.88750	2.662000	0.90505	0.655000	0.94253	AAG			0.413	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000387702.1		NM_001024956		T	121177795	G	T	121177795	3	4	96	1	0	0	0	0	1	0	0	0	13889	933	33	3	488	3	SC5DL	11	121177795	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4072775	121177795	13828721	315	7100											
OR8B3	390271	broad.mit.edu	37	chr11	124267204	124267204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgatctgttaatccaGcaagaataaattcagtcact	14	12	7	8	0	3	2	2	1	1	1	4	3	4	3	1	1	1	2	1	1	5	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr11:124267204G>T	ENST00000354597.3	-	1	60	c.44C>A	c.(43-45)gCt>gAt	p.A15D		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	15						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)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGTTAATCCAGCAAGAATAAA	0.383																																					p.A15D													.	OR8B3	36		0			c.C44A												21	30	27					11																	124267204		2066	4249	6315	SO:0001583	missense	390271	exon1			AATCCAGCAAGAA	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.44C>A	11.37:g.124267204G>T	ENSP00000346611:p.Ala15Asp		167	0	0		146	0.03	4	NM_001005467	0		0	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	3.152	-0.174060	0.06421	.	.	ENSG00000196661	ENST00000354597	T	0.00441	7.41	3.64	1.77	0.24775	.	0.104096	0.42964	D	0.000629	T	0.00271	0.0008	L	0.41710	1.295	0.09310	N	0.999999	B	0.20550	0.046	B	0.18263	0.021	T	0.40739	-0.9547	10	0.27785	T	0.31	.	5.5171	0.16912	0.4916:0.0:0.5084:0.0	.	15	Q8NGG8	OR8B3_HUMAN	D	15	ENSP00000346611:A15D	ENSP00000346611:A15D	A	-	2	0	OR8B3	123772414	0.000000	0.05858	0.630000	0.29268	0.182000	0.23217	-0.021000	0.12504	0.518000	0.28383	-0.158000	0.13435	GCT			0.383	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387291.1		NM_001005467		T	124267204	G	T	124267204	3	4	96	1	0	0	0	0	1	0	0	0	11245	971	34	2	899	2	OR8B3	11	124267204	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3089409	124267204	10739312	316	7101											
RAD52	5893	broad.mit.edu	37	chr12	1025813	1025813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggccgcataccgggagctGcagtcctggtccgccggtat	6	8	14	13	4	0	0	0	0	0	0	2	1	2	1	5	4	3	4	5	4	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:1025813G>A	ENST00000358495.3	-	8	855	c.717C>T	c.(715-717)tgC>tgT	p.C239C	RAD52_ENST00000430095.2_Silent_p.C239C|RAD52_ENST00000535376.1_5'Flank|RAD52_ENST00000536177.1_Silent_p.C239C|RAD52_ENST00000539046.1_Silent_p.C162C	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	239	Mediates interaction with RPA2.				DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			ACCGGGAGCTGCAGTCCTGGT	0.672								Homologous recombination																													p.C239C													.	RAD52	27		0			c.C717T												53	56	55					12																	1025813		2055	4201	6256	SO:0001819	synonymous_variant	5893	exon8			GGAGCTGCAGTCC		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"RAD52 (S. cerevisiae) homolog"			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.717C>T	12.37:g.1025813G>A			88	0.0113636364	1		249	0.02	4	NM_134424	27	0	0	Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	CCDS8507.2																																																																																					0.672	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206733.2		NM_134424		A	1025813	G	A	1025813	2	1	96	1	0	0	0	0	0	0	0	1	13014	1311	46	2		2	RAD52	12	1025813	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		1025813	132826082	317	7102											
NRIP2	83714	broad.mit.edu	37	chr12	2944011	2944011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgctcatggcccctgctgGaggagtgggccaggggctgc	4	7	19	11	0	1	0	1	0	0	0	1	2	1	2	3	7	3	3	3	7	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:2944011G>T	ENST00000337508.4	-	1	179	c.139C>A	c.(139-141)Cca>Aca	p.P47T		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	47					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCCCCTGCTGGAGGAGTGGGC	0.652																																					p.P47T													.	NRIP2	21		0			c.C139A												77	75	75					12																	2944011		2203	4300	6503	SO:0001583	missense	83714	exon1			CTGCTGGAGGAGT	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.139C>A	12.37:g.2944011G>T	ENSP00000337501:p.Pro47Thr		97	0.0103092784	1		307	0.01	4	NM_031474	8	0	0	A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684833	0.29872	.	.	ENSG00000053702	ENST00000337508;ENST00000546074	.	.	.	3.81	2.87	0.33458	.	82.040100	0.00166	N	0.000000	T	0.43986	0.1272	L	0.46157	1.445	0.09310	N	1	B	0.20550	0.046	B	0.12156	0.007	T	0.18681	-1.0329	9	0.29301	T	0.29	-3.5574	8.0242	0.30427	0.0:0.0:0.7449:0.2551	.	47	Q9BQI9	NRIP2_HUMAN	T	47	.	ENSP00000337501:P47T	P	-	1	0	NRIP2	2814272	0.000000	0.05858	0.069000	0.20011	0.133000	0.20885	-0.086000	0.11233	0.761000	0.33130	0.484000	0.47621	CCA			0.652	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253090.4		NM_031474		T	2944011	G	T	2944011	3	4	96	1	0	0	0	0	1	0	0	0	10670	1174	41	3	730	3	NRIP2	12	2944011	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1918198	2944011	130907884	318	7103											
VWF	7450	broad.mit.edu	37	chr12	6076729	6076729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccacctgcaccatgcagcGgcaggtcgtgcacacatcga	9	5	10	17	3	0	0	0	0	0	0	2	1	0	0	4	2	4	4	4	2	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6076729G>T	ENST00000261405.5	-	47	8064	c.7810C>A	c.(7810-7812)Cgc>Agc	p.R2604S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2604	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)	p.R2604C(1)		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)	ACCATGCAGCGGCAGGTCGTG	0.632																																					p.R2604S													VWF,NS,NS,0,1	VWF	338	1	1	Substitution - Missense(1)	NS(1)	c.C7810A												144	134	137					12																	6076729		2203	4300	6503	SO:0001583	missense	7450	exon47			TGCAGCGGCAGGT		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.7810C>A	12.37:g.6076729G>T	ENSP00000261405:p.Arg2604Ser		100	0	0		297	0.01	3	NM_000552	145	0	0	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	7.731	0.699331	0.15106	.	.	ENSG00000110799	ENST00000261405	T	0.72051	-0.62	5.04	5.04	0.67666	von Willebrand factor, type C (4);	0.877201	0.09501	N	0.793574	T	0.70570	0.3239	M	0.68317	2.08	0.80722	D	1	B	0.21381	0.055	B	0.26310	0.068	T	0.59327	-0.7475	10	0.21014	T	0.42	.	13.7605	0.62963	0.0:0.0:1.0:0.0	.	2604	P04275	VWF_HUMAN	S	2604	ENSP00000261405:R2604S	ENSP00000261405:R2604S	R	-	1	0	VWF	5946990	0.983000	0.35010	0.938000	0.37757	0.008000	0.06430	2.156000	0.42310	2.619000	0.88677	0.561000	0.74099	CGC			0.632	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399020.1		NM_000552		T	6076729	G	T	6076729	3	4	96	1	0	0	0	0	1	0	0	0	17270	1116	39	1	655	1	VWF	12	6076729	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3132718	6076729	127775166	319	7104											
CD9	928	broad.mit.edu	37	chr12	6344654	6344654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtagttgaactgctgtGgtttggctgggggcgtggaa	5	12	18	6	2	0	1	0	1	0	0	0	2	0	2	0	5	2	6	0	5	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6344654G>T	ENST00000382518.1	+	7	896	c.460G>T	c.(460-462)Ggt>Tgt	p.G154C	CD9_ENST00000009180.4_Missense_Mutation_p.G154C|Y_RNA_ENST00000365448.1_RNA|CD9_ENST00000382515.2_Missense_Mutation_p.G85C|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	154					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GAACTGCTGTGGTTTGGCTGG	0.502																																					p.G154C													.	CD9	24		0			c.G460T												136	124	128					12																	6344654		2203	4300	6503	SO:0001583	missense	928	exon6			TGCTGTGGTTTGG	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"CD molecules", "Tetraspanins"	1709	protein-coding gene	gene with protein product	"motility related protein-1"	143030	"CD9 antigen (p24)"	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.460G>T	12.37:g.6344654G>T	ENSP00000371958:p.Gly154Cys		96	0.0104166667	1		326	0.02	6	NM_001769	4845	0	3	D3DUQ9|Q5J7W6|Q96ES4	Missense_Mutation	SNP	ENST00000382518.1	37	CCDS8540.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.85|17.85	3.489882|3.489882	0.64074|0.64074	.|.	.|.	ENSG00000010278|ENSG00000010278	ENST00000382518;ENST00000382519;ENST00000543424;ENST00000009180;ENST00000382515|ENST00000425469	D;D;D;D|.	0.99201|.	-5.55;-5.55;-5.55;-5.55|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81370|0.81370	0.4808|0.4808	H|H	0.98559|0.98559	4.265|4.265	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.43094	1.0|0.799	D|B	0.97110|0.40228	1.0|0.323	D|D	0.88278|0.88278	0.2934|0.2934	10|8	0.87932|0.87932	D|D	0|0	.|.	17.2301|17.2301	0.86982|0.86982	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	154|203	P21926|B4DK09	CD9_HUMAN|.	C|L	154;177;67;154;85|153	ENSP00000371958:G154C;ENSP00000371959:G177C;ENSP00000009180:G154C;ENSP00000371955:G85C|.	ENSP00000009180:G154C|ENSP00000388933:W153L	G|W	+|+	1|2	0|0	CD9|CD9	6214915|6214915	1.000000|1.000000	0.71417|0.71417	0.828000|0.828000	0.32881|0.32881	0.136000|0.136000	0.21042|0.21042	8.556000|8.556000	0.90697|0.90697	2.678000|2.678000	0.91216|0.91216	0.655000|0.655000	0.94253|0.94253	GGT|TGG			0.502	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103348.1				T	6344654	G	T	6344654	3	4	96	1	0	0	0	0	1	0	0	0	3048	1348	47	3	482	3	CD9	12	6344654	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	267925	6344654	127507241	320	7105											
SCNN1A	6337	broad.mit.edu	37	chr12	6483687	6483687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcagagccacagcactGcccagaaggccgtcttcatg	10	6	12	13	1	2	2	1	0	1	2	2	2	2	2	3	2	4	2	3	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6483687G>T	ENST00000228916.2	-	2	361	c.263C>A	c.(262-264)gCa>gAa	p.A88E	SCNN1A_ENST00000358945.3_Missense_Mutation_p.A88E|SCNN1A_ENST00000543768.1_Missense_Mutation_p.A111E|SCNN1A_ENST00000396966.2_Missense_Mutation_p.A88E|SCNN1A_ENST00000360168.3_Missense_Mutation_p.A147E|SCNN1A_ENST00000538979.1_Intron|LTBR_ENST00000539925.1_5'Flank	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	88					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCACAGCACTGCCCAGAAGGC	0.567																																					p.A147E													.	SCNN1A	54		0			c.C440A												165	137	147					12																	6483687		2203	4300	6503	SO:0001583	missense	0	exon1			AGCACTGCCCAGA	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.263C>A	12.37:g.6483687G>T	ENSP00000228916:p.Ala88Glu		91	0	0		304	0.02	5	NM_001159576	81	0	0	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652508	0.67472	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768;ENST00000536788	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	4.87	4.87	0.63330	.	0.479020	0.20923	N	0.083245	T	0.73094	0.3543	M	0.73962	2.25	0.31155	N	0.705007	D;P;P	0.56287	0.975;0.863;0.823	P;P;P	0.60886	0.88;0.762;0.516	T	0.74556	-0.3626	10	0.44086	T	0.13	-14.5908	9.2005	0.37256	0.0993:0.0:0.9007:0.0	.	111;88;147	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	E	147;88;88;88;111;109	ENSP00000353292:A147E;ENSP00000351825:A88E;ENSP00000228916:A88E;ENSP00000380166:A88E;ENSP00000438739:A111E;ENSP00000443434:A109E	ENSP00000228916:A88E	A	-	2	0	SCNN1A	6353948	1.000000	0.71417	0.977000	0.42913	0.847000	0.48162	4.292000	0.59031	2.249000	0.74217	0.561000	0.74099	GCA			0.567	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399055.1				T	6483687	G	T	6483687	3	4	96	1	0	0	0	0	1	0	0	0	13950	1319	46	2	1794	2	SCNN1A	12	6483687	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	139033	6483687	127368208	321	7106											
IFFO1	25900	broad.mit.edu	37	chr12	6649685	6649685	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgagacatcgcgatcGgagtcctcagcctcgcttgg	8	9	12	12	4	2	2	2	1	0	2	6	5	3	3	2	2	1	1	2	2	0	1	rs201420908		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6649685G>T	ENST00000396840.2	-	9	1685	c.1644C>A	c.(1642-1644)tcC>tcA	p.S548S	RP5-940J5.8_ENST00000499202.2_RNA|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000336604.4_Silent_p.S551S|IFFO1_ENST00000356896.4_Silent_p.S552S|IFFO1_ENST00000465801.1_Silent_p.S244S|IFFO1_ENST00000436152.2_Silent_p.S245S			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	548						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CATCGCGATCGGAGTCCTCAG	0.617																																					p.S560S													.	IFFO1	55		0			c.C1680A												57	58	57					12																	6649685		2203	4300	6503	SO:0001819	synonymous_variant	25900	exon10			GCGATCGGAGTCC	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.1644C>A	12.37:g.6649685G>T			117	0	0		399	0.02	9	NM_001193457	79	0	0	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37		.	.	.	.	.	.	.	.	.	.	G	11.31	1.599668	0.28534	.	.	ENSG00000010295	ENST00000416019;ENST00000423501	.	.	.	4.84	2.98	0.34508	.	.	.	.	.	T	0.43875	0.1267	.	.	.	0.80722	D	1	P	0.48998	0.918	P	0.44946	0.465	T	0.24870	-1.0148	6	.	.	.	-18.5917	4.8333	0.13451	0.0796:0.3026:0.4797:0.1382	.	243	Q6P593	.	Q	282;188	.	.	P	-	2	0	IFFO1	6519946	0.980000	0.34600	1.000000	0.80357	0.990000	0.78478	-0.014000	0.12656	0.612000	0.30071	-0.268000	0.10319	CCG			0.617	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000280428.1		NM_080730		T	6649685	G	T	6649685	2	4	96	1	0	0	0	0	0	0	0	1	7525	1103	39	1		1	IFFO1	12	6649685	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	165998	6649685	127202210	322	7107											
ACRBP	84519	broad.mit.edu	37	chr12	6749616	6749616	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcctctgagtggcactGctccagcttcaaggagcaga	8	8	13	12	0	2	2	1	1	1	1	3	3	3	3	2	3	3	5	2	3	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6749616G>A	ENST00000229243.2	-	7	1243	c.1150C>T	c.(1150-1152)Cag>Tag	p.Q384*	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.Q351*	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GAGTGGCACTGCTCCAGCTTC	0.612																																					p.Q384X													.	ACRBP	52		0			c.C1150T												54	58	57					12																	6749616		2203	4300	6503	SO:0001587	stop_gained	84519	exon7			GGCACTGCTCCAG	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"proacrosin binding protein sp32", "cancer/testis antigen 23"	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1150C>T	12.37:g.6749616G>A	ENSP00000229243:p.Gln384*		102	0	0		313	0.02	5	NM_032489	2	0	0		Nonsense_Mutation	SNP	ENST00000229243.2	37	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044529	0.97231	.	.	ENSG00000111644	ENST00000229243;ENST00000414226	.	.	.	5.07	5.07	0.68467	.	0.260219	0.29266	N	0.012655	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5664	0.50807	0.0831:0.0:0.9169:0.0	.	.	.	.	X	384;351	.	ENSP00000229243:Q384X	Q	-	1	0	ACRBP	6619877	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.797000	0.69087	2.329000	0.79093	0.561000	0.74099	CAG			0.612	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400703.1		NM_032489		A	6749616	G	A	6749616	4	1	96	1	0	0	0	0	0	1	0	0	170	1328	46	2	497	2	ACRBP	12	6749616	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	99931	6749616	127102279	323	7108											
ZNF384	171017	broad.mit.edu	37	chr12	6787518	6787518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacctgcagggcttgtgagCcagggggaagagctgagaca	11	5	16	9	0	0	3	0	2	0	2	0	5	0	4	2	3	4	3	2	3	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:6787518C>T	ENST00000396801.3	-	6	668	c.461G>A	c.(460-462)gGc>gAc	p.G154D	ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.G154D|ZNF384_ENST00000396799.2_Missense_Mutation_p.G154D|ZNF384_ENST00000319770.3_Missense_Mutation_p.G138D|ZNF384_ENST00000396795.1_Missense_Mutation_p.G154D	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	154					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						GGCTTGTGAGCCAGGGGGAAG	0.582			T	"EWSR1, TAF15 "	ALL																																p.G154D				Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	.	ZNF384	102		0			c.G461A												48	46	47					12																	6787518		2203	4300	6503	SO:0001583	missense	0	exon6			TGTGAGCCAGGGG	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.461G>A	12.37:g.6787518C>T	ENSP00000380019:p.Gly154Asp		91	0	0		308	0.02	6	NM_133476	89	0	0	O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.319951	0.60634	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485	T;T;T;T;T;T	0.08720	3.15;3.14;3.06;3.06;3.14;3.51	5.47	5.47	0.80525	.	0.429971	0.26106	N	0.026314	T	0.25568	0.0622	L	0.53249	1.67	0.52099	D	0.999949	D;D;P;D	0.71674	0.965;0.998;0.939;0.969	P;D;P;P	0.72338	0.766;0.977;0.565;0.785	T	0.00116	-1.2037	10	0.54805	T	0.06	-13.8422	17.4978	0.87723	0.0:1.0:0.0:0.0	.	154;154;138;154	Q8TF68;E9PHB3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	D	138;154;154;154;154;154;138;138;154;138	ENSP00000321650:G138D;ENSP00000380013:G154D;ENSP00000380019:G154D;ENSP00000354592:G154D;ENSP00000380017:G154D;ENSP00000412911:G138D	ENSP00000321650:G138D	G	-	2	0	ZNF384	6657779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.020000	0.70826	2.560000	0.86352	0.591000	0.81541	GGC			0.582	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400712.1				T	6787518	C	T	6787518	3	4	96	1	0	0	0	0	1	0	0	0	17898	739	26	2	1296	2	ZNF384	12	6787518	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	37902	6787518	127064377	324	7109											
A2M	2	broad.mit.edu	37	chr12	9248225	9248225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattatgacgattgatgcaGtcttcattgtcctggtcatt	9	16	8	8	1	3	2	2	2	1	0	4	3	4	2	1	1	1	1	1	1	1	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:9248225G>T	ENST00000318602.7	-	16	2230	c.1923C>A	c.(1921-1923)gaC>gaA	p.D641E		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	641					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)	GATTGATGCAGTCTTCATTGT	0.398																																					p.D641E													.	A2M	180		0			c.C1923A												124	118	120					12																	9248225		1864	4104	5968	SO:0001583	missense	2	exon16			GATGCAGTCTTCA	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.1923C>A	12.37:g.9248225G>T	ENSP00000323929:p.Asp641Glu		170	0.0117647059	2		535	0.01	8	NM_000014	65	0	0	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	5.745	0.321913	0.10900	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.26518	1.73	5.65	-3.6	0.04570	.	0.659725	0.15601	N	0.253914	T	0.11239	0.0274	L	0.35542	1.07	0.09310	N	0.999997	B	0.11235	0.004	B	0.10450	0.005	T	0.34875	-0.9811	10	0.08599	T	0.76	.	2.1502	0.03797	0.2909:0.1984:0.4061:0.1046	.	641	P01023	A2MG_HUMAN	E	641;656	ENSP00000323929:D641E	ENSP00000323929:D641E	D	-	3	2	A2M	9139492	0.001000	0.12720	0.002000	0.10522	0.049000	0.14656	-0.517000	0.06275	-0.507000	0.06549	0.650000	0.86243	GAC			0.398	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317233.2		NM_000014		T	9248225	G	T	9248225	3	4	96	1	0	0	0	0	1	0	0	0	4	1020	36	3	2585	3	A2M	12	9248225	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2460707	9248225	124603670	325	7110											
PRB2	653247	broad.mit.edu	37	chr12	11546004	11546004	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggtgggggaccttgAggtttgttgcctccttgtgg	3	13	17	8	0	0	1	0	1	0	0	1	3	1	3	4	6	1	2	4	6	0	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:11546004A>T	ENST00000389362.4	-	3	1043	c.1008T>A	c.(1006-1008)ccT>ccA	p.P336P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	336	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)			GGGGACCTTGAGGTTTGTTGC	0.617																																					p.P336P													.	PRB2	168		0			c.T1008A												65	79	74					12																	11546004		2141	4195	6336	SO:0001819	synonymous_variant	653247	exon3			ACCTTGAGGTTTG	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.1008T>A	12.37:g.11546004A>T			309	0.0097087379	3		1020	0.02	24	NM_006248	0		0	O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																					0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346925.2		NM_006248		T	11546004	A	T	11546004	2	4	96	1	0	0	0	0	0	0	0	1	12463	291	11	5		5	PRB2	12	11546004	Silent	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	2297779	11546004	122305891	326	7111											
DDX47	51202	broad.mit.edu	37	chr12	12974319	12974319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccctggggtcctctattgGagtgcagagtggtaagtgtc	7	11	15	8	0	1	1	0	0	1	1	3	2	2	2	2	4	2	2	2	4	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:12974319G>T	ENST00000358007.3	+	3	381	c.359G>T	c.(358-360)gGa>gTa	p.G120V	DDX47_ENST00000352940.4_Missense_Mutation_p.G120V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	120	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCCTCTATTGGAGTGCAGAGT	0.527																																					p.G120V													.	DDX47	37		0			c.G359T												99	100	100					12																	12974319		2203	4300	6503	SO:0001583	missense	51202	exon3			CTATTGGAGTGCA	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.359G>T	12.37:g.12974319G>T	ENSP00000350698:p.Gly120Val		94	0	0		280	0.01	4	NM_201224	278	0	0	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807209	0.90623	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.54279	0.58;3.27	5.6	5.6	0.85130	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.89917	0.998;0.989;0.984;1.0	D;D;P;D	0.83275	0.963;0.914;0.902;0.996	T	0.74423	-0.3670	10	0.72032	D	0.01	-9.1955	19.616	0.95634	0.0:0.0:1.0:0.0	.	120;120;120;120	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	V	120	ENSP00000319578:G120V;ENSP00000350698:G120V	ENSP00000319578:G120V	G	+	2	0	DDX47	12865586	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.201000	0.95017	2.642000	0.89623	0.555000	0.69702	GGA			0.527	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400674.1		NM_016355		T	12974319	G	T	12974319	3	4	96	1	0	0	0	0	1	0	0	0	4367	1174	41	3	369	3	DDX47	12	12974319	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1428315	12974319	120877576	327	7112											
GSG1	83445	broad.mit.edu	37	chr12	13243709	13243709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcatgctgaggatggcaGataggagtgtccgctggcca	10	8	15	8	1	0	2	0	1	0	1	1	4	1	4	2	4	2	4	2	4	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:13243709G>T	ENST00000432710.2	-	2	224	c.92C>A	c.(91-93)tCt>tAt	p.S31Y	GSG1_ENST00000324458.8_Missense_Mutation_p.S31Y|GSG1_ENST00000351606.6_Missense_Mutation_p.S31Y|GSG1_ENST00000396310.2_Missense_Mutation_p.S15Y|GSG1_ENST00000537302.1_Missense_Mutation_p.S18Y|GSG1_ENST00000457134.2_Missense_Mutation_p.S18Y|GSG1_ENST00000396302.3_Missense_Mutation_p.S18Y|GSG1_ENST00000337630.6_Missense_Mutation_p.S18Y	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	18						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAGGATGGCAGATAGGAGTGT	0.562																																					p.S31Y													.	GSG1	62		0			c.C92A												105	93	97					12																	13243709		2203	4300	6503	SO:0001583	missense	83445	exon2			ATGGCAGATAGGA	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.92C>A	12.37:g.13243709G>T	ENSP00000405032:p.Ser31Tyr		102	0	0		285	0.02	5	NM_001080554	18	0	0	Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	CCDS55808.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587516	0.86851	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000396302;ENST00000457134;ENST00000432710;ENST00000537302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000542415;ENST00000545699	T;T;T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.4	5.4	0.78164	.	0.140643	0.48767	D	0.000168	T	0.69522	0.3120	M	0.82517	2.595	0.40855	D	0.983783	D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.87578	0.986;0.983;0.993;0.99;0.981;0.998;0.991;0.98	T	0.75004	-0.3470	10	0.87932	D	0	.	19.1798	0.93619	0.0:0.0:1.0:0.0	.	31;31;31;18;18;18;18;18	Q2KHT4-7;Q2KHT4-6;G3XAB9;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A0;F1T0A1	.;.;.;GSG1_HUMAN;.;.;.;.	Y	18;31;15;18;18;31;18;31;15;31;31;18	ENSP00000336816:S18Y;ENSP00000320838:S31Y;ENSP00000379604:S15Y;ENSP00000379596:S18Y;ENSP00000398384:S18Y;ENSP00000405032:S31Y;ENSP00000441718:S18Y;ENSP00000336857:S31Y;ENSP00000445884:S31Y;ENSP00000439676:S31Y;ENSP00000440684:S18Y	ENSP00000320838:S31Y	S	-	2	0	GSG1	13134976	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.638000	0.83328	2.537000	0.85549	0.561000	0.74099	TCT			0.562	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316546.1		NM_031289		T	13243709	G	T	13243709	3	4	96	1	0	0	0	0	1	0	0	0	6835	942	33	3	1144	3	GSG1	12	13243709	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	269390	13243709	120608186	328	7113											
RERG	85004	broad.mit.edu	37	chr12	15264285	15264285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctttattcacctgaccaGcagtgtctagtatctccatg	9	14	6	12	0	4	1	1	1	3	0	5	1	4	1	3	0	1	2	3	0	3	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:15264285G>T	ENST00000256953.2	-	4	521	c.185C>A	c.(184-186)gCt>gAt	p.A62D	RERG_ENST00000537647.1_Missense_Mutation_p.A62D|RERG_ENST00000538313.1_Missense_Mutation_p.A62D|RERG_ENST00000546331.1_Missense_Mutation_p.A43D|RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000536465.1_Missense_Mutation_p.A62D	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	62					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACCTGACCAGCAGTGTCTAG	0.348																																					p.A62D													.	RERG	30		0			c.C185A												113	117	116					12																	15264285		2203	4300	6503	SO:0001583	missense	85004	exon4			TGACCAGCAGTGT	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.185C>A	12.37:g.15264285G>T	ENSP00000256953:p.Ala62Asp		130	0	0		365	0.01	4	NM_032918	12	0	0	B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111168	0.94339	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331;ENST00000545567;ENST00000537647	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.26	5.26	0.73747	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96528	0.8867	H	0.96748	3.875	0.80722	D	1	D;D	0.71674	0.998;0.985	D;D	0.75484	0.986;0.926	D	0.97609	1.0128	10	0.87932	D	0	.	17.6113	0.88054	0.0:0.0:1.0:0.0	.	43;62	B4DI02;Q96A58	.;RERG_HUMAN	D	62;62;62;43;75;62	ENSP00000256953:A62D;ENSP00000441505:A62D;ENSP00000438280:A62D;ENSP00000444485:A43D;ENSP00000439532:A75D;ENSP00000441860:A62D	ENSP00000256953:A62D	A	-	2	0	RERG	15155552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.646000	0.98474	2.744000	0.94065	0.650000	0.86243	GCT			0.348	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400882.1		NM_032918		T	15264285	G	T	15264285	3	4	96	1	0	0	0	0	1	0	0	0	13255	971	34	2	422	2	RERG	12	15264285	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2020576	15264285	118587610	329	7114											
PDE3A	5139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	20769229	20769229	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacttggaccaccaccacCtcggccacaggtctacccac	9	6	6	20	1	1	0	0	0	1	0	3	1	2	1	7	3	1	0	7	3	1	2	rs565901497		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:20769229C>G	ENST00000359062.3	+	4	1375	c.1335C>G	c.(1333-1335)acC>acG	p.T445T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	445	Poly-Thr.				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)	CCACCACCACCTCGGCCACAG	0.547													C|||	1	0.000199681	0	0	5008	,	,		14247	0		0	False		,,,				2504	0.001				p.T445T													.	.			0			c.C1335G												127	115	119					12																	20769229		2203	4300	6503	SO:0001819	synonymous_variant	5139	exon4			CACCACCTCGGCC		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.1335C>G	12.37:g.20769229C>G			108	0	0		336	0.1	32	NM_000921	0		0	O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	CCDS31754.1																																																																																					0.547	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401756.2				G	20769229	C	G	20769229	2	3	96	1	0	0	0	0	0	0	0	1	11654	668	24	5		5	PDE3A	12	20769229	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	5504944	20769229	113082666	330	7115											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354747	22354747	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgtggacaggcgcttGgcatggattcctctactttt	6	14	11	10	1	1	0	0	0	1	0	3	2	3	2	2	4	1	2	2	4	1	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:22354747G>T	ENST00000396037.4	-	5	1291	c.810C>A	c.(808-810)gcC>gcA	p.A270A	ST8SIA1_ENST00000539510.1_Silent_p.A127A	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	270					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						ACAGGCGCTTGGCATGGATTC	0.498																																					p.A270A													ST8SIA1,colon,carcinoma,-1,1	ST8SIA1	55	1	0			c.C810A												68	71	70					12																	22354747		2203	4300	6503	SO:0001819	synonymous_variant	6489	exon5			GCGCTTGGCATGG	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.810C>A	12.37:g.22354747G>T			92	0	0		295	0.02	5	NM_003034	3	0	0	A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	CCDS8697.1																																																																																					0.498	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402245.2		NM_003034		T	22354747	G	T	22354747	2	4	96	1	0	0	0	0	0	0	0	1	15254	1335	47	3		3	ST8SIA1	12	22354747	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1585518	22354747	111497148	331	7116											
ETNK1	55500	broad.mit.edu	37	chr12	22797183	22797183	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaggaaaaactacaaGatgttttggattaaccggct	15	11	9	6	1	0	1	0	0	0	1	0	3	0	3	1	3	4	3	1	3	6	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:22797183G>T	ENST00000266517.4	+	2	772				ETNK1_ENST00000335148.3_Missense_Mutation_p.R241I	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAACTACAAGATGTTTTGGA	0.343																																					p.R241I	Esophageal Squamous(42;87 913 3224 6226 43339)												.	ETNK1	61		0			c.G722T												118	105	109					12																	22797183		1814	4078	5892	SO:0001627	intron_variant	55500	exon3			CTACAAGATGTTT	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.683+227G>T	12.37:g.22797183G>T			124	0	0		269	0.02	5	NM_001039481	9	0	0	G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	G	7.579	0.668244	0.14776	.	.	ENSG00000139163	ENST00000335148	.	.	.	2.87	0.875	0.19130	.	.	.	.	.	T	0.26231	0.0640	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25641	-1.0126	8	0.62326	D	0.03	.	2.4596	0.04538	0.1128:0.1899:0.5022:0.1951	.	241	G5E969	.	I	241	.	ENSP00000334041:R241I	R	+	2	0	ETNK1	22688450	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.386000	0.20702	0.078000	0.16900	-0.310000	0.09108	AGA			0.343	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401926.2		NM_018638		T	22797183	G	T	22797183	1	4	96	0	1	0	0	0	0	0	0	0	5280	942	33	3		3	ETNK1	12	22797183	Intron	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	442436	22797183	111054712	332	7117											
MRPS35	60488	broad.mit.edu	37	chr12	27908360	27908360	+	Frame_Shift_Del	DEL	A	A	-																															ctcagtacaaagaatccgtgAagagactattaaatgtgaca																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:27908360delA	ENST00000081029.3	+	8	1020	c.949delA	c.(949-951)aagfs	p.K317fs	MRPS35_ENST00000538315.1_3'UTR|Y_RNA_ENST00000516776.1_RNA	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AGAATCCGTGAAGAGACTATT	0.279																																					p.K317fs													MRPS35,NS,carcinoma,-1,1	MRPS35	26	1	0			c.949delA												62	74	70					12																	27908360		2173	4276	6449	SO:0001589	frameshift_variant	60488	exon8			TCCGTGAAGAGAC	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"Mitochondrial ribosomal proteins / small subunits"	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.949delA	12.37:g.27908360delA	ENSP00000081029:p.Lys317fs		248	0	0		706	0.01	9	NM_021821	610	0	0	B2RDZ7|Q96Q21	Frame_Shift_Del	DEL	ENST00000081029.3	37	CCDS8714.1																																																																																					0.279	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402897.1		NM_021821		-	27908360	A	-	27908360	7	5	96	1	0	1	0	1	0	0	0	0	9860	247	9	0	979	0	MRPS35	12	27908360	Frame_Shift_Del	DEL	A	TCGA-VF-A8A8-01A-11D-A435-10	5111177	27908360	105943535	333	7118											
TMTC1	83857	broad.mit.edu	37	chr12	29659824	29659825	+	Frame_Shift_Ins	INS	-	-	C																															cttgtaatcgtttttctaggINScgatccaatttggcaagatt																								rs35279918		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:29659824_29659825insC	ENST00000539277.1	-	18	2661_2662	c.2603_2604insG	c.(2602-2604)cgcfs	p.R868fs	TMTC1_ENST00000256062.5_Frame_Shift_Ins_p.R760fs|TMTC1_ENST00000552618.1_Frame_Shift_Ins_p.R892fs|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Frame_Shift_Ins_p.R930fs	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTTTTCTAGGCGATCCAATTT	0.455																																					p.R868fs													.	TMTC1	147		0			c.2604_2605insG																																									SO:0001589	frameshift_variant	83857	exon18			TTCTAGGCGATCC		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2604dupG	12.37:g.29659825_29659825dupC	ENSP00000442046:p.Arg868fs		170	0	0		488	0.01	7	NM_001193451	40	0	0	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Frame_Shift_Ins	INS	ENST00000539277.1	37	CCDS53772.1																																																																																					0.455	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000403509.1		NM_031920		C	29659825	-	C	29659824	7	5	96	1	0	1	1	0	0	0	0	0	16283	1190	42	0	48	0	TMTC1	12	29659824	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	1751464	29659824	104192071	334	7119											
C12orf35	55196	broad.mit.edu	37	chr12	32135426	32135426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctgtctattctgaaaagCggccaatgccagactcatct	11	11	7	12	1	4	2	1	1	3	1	5	2	5	2	3	1	2	0	3	1	4	2	rs146592039		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:32135426C>T	ENST00000312561.4	+	4	1951	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	513																	TTCTGAAAAGCGGCCAATGCC	0.393																																					p.R513W													C12orf35,NS,carcinoma,0,1	.		1	0			c.C1537T							C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	58	58	58		1537	-6.8	0	12	dbSNP_134	58	0,8600		0,0,4300	no	missense	C12orf35	NM_018169.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	513/1748	32135426	1,13005	2203	4300	6503	SO:0001583	missense	55196	exon4			GAAAAGCGGCCAA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1537C>T	12.37:g.32135426C>T	ENSP00000310338:p.Arg513Trp		104	0	0		346	0.01	5	NM_018169	103	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186962	0.38609	2.27E-4	0.0	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.06142	3.98;3.34	4.76	-6.82	0.01698	.	2.764630	0.02345	N	0.075284	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	P	0.49358	0.923	B	0.43916	0.436	T	0.28902	-1.0029	9	.	.	.	.	2.4757	0.04575	0.1508:0.3424:0.3272:0.1795	.	513	Q9HCM1	CL035_HUMAN	W	513	ENSP00000310338:R513W;ENSP00000370442:R513W	.	R	+	1	2	C12orf35	32026693	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.251000	0.08818	-1.239000	0.02532	-0.471000	0.05019	CGG			0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250307.2		NM_018169		T	32135426	C	T	32135426	3	4	96	1	0	0	0	0	1	0	0	0	1684	759	27	1	1539	1	C12orf35	12	32135426	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	2475602	32135426	101716469	335	7120											
DNM1L	10059	broad.mit.edu	37	chr12	32861095	32861095	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatttttagctttacacGgattttgatgaaattcgaca	15	15	6	5	2	0	2	0	2	0	0	1	4	0	3	0	1	2	1	0	1	5	8			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:32861095G>T	ENST00000549701.1	+	4	380	c.306G>T	c.(304-306)acG>acT	p.T102T	DNM1L_ENST00000553257.1_Silent_p.T115T|DNM1L_ENST00000358214.5_Silent_p.T115T|DNM1L_ENST00000452533.2_Silent_p.T102T|DNM1L_ENST00000266481.6_Silent_p.T102T|DNM1L_ENST00000381000.4_Silent_p.T115T|DNM1L_ENST00000547312.1_Silent_p.T102T|DNM1L_ENST00000548671.1_3'UTR|Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000414834.2_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	102	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGCTTTACACGGATTTTGATG	0.308																																					p.T102T													.	DNM1L	52		0			c.G306T												29	31	30					12																	32861095		2186	4279	6465	SO:0001819	synonymous_variant	10059	exon4			TTACACGGATTTT	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.306G>T	12.37:g.32861095G>T			280	0	0		823	0.01	7	NM_012062	30	0	0	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	CCDS8729.1																																																																																					0.308	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000404124.1		NM_012062		T	32861095	G	T	32861095	2	4	96	1	0	0	0	0	0	0	0	1	4676	1103	39	1		1	DNM1L	12	32861095	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	725669	32861095	100990800	336	7121											
BIN2	51411	broad.mit.edu	37	chr12	51675288	51675288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggtagtttctcttcagaGttgtggattttcacttgtgg	5	19	11	6	0	3	1	2	0	1	1	4	2	3	2	0	3	0	3	0	3	1	8			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:51675288G>T	ENST00000267012.4	-	13	1754	c.1693C>A	c.(1693-1695)Ctc>Atc	p.L565I	BIN2_ENST00000544402.1_Missense_Mutation_p.L539I|BIN2_ENST00000604560.1_Missense_Mutation_p.N508K|BIN2_ENST00000452142.2_Missense_Mutation_p.L533I	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	565					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						TCTCTTCAGAGTTGTGGATTT	0.473																																					p.L565I													.	BIN2	58		0			c.C1693A												186	164	171					12																	51675288		2203	4300	6503	SO:0001583	missense	51411	exon13			TTCAGAGTTGTGG	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.1693C>A	12.37:g.51675288G>T	ENSP00000267012:p.Leu565Ile		162	0.012345679	2		228	0.03	6	NM_016293	73	0	0	Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960848	0.34565	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.71222	-0.55;-0.53;-0.52	3.98	2.16	0.27623	.	2.286840	0.02321	N	0.072975	T	0.60366	0.2263	N	0.24115	0.695	0.09310	N	1	P;P;P	0.44139	0.827;0.827;0.734	B;B;B	0.41510	0.359;0.359;0.196	T	0.54483	-0.8287	10	0.62326	D	0.03	.	6.1397	0.20253	0.2278:0.0:0.7722:0.0	.	539;533;565	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	I	533;565;539	ENSP00000410217:L533I;ENSP00000267012:L565I;ENSP00000445874:L539I	ENSP00000267012:L565I	L	-	1	0	BIN2	49961555	0.179000	0.23135	0.391000	0.26233	0.867000	0.49689	0.382000	0.20635	0.661000	0.30985	0.561000	0.74099	CTC			0.473	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000469800.1				T	51675288	G	T	51675288	3	4	96	1	0	0	0	0	1	0	0	0	1433	1029	36	3	8	3	BIN2	12	51675288	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	18814193	51675288	82176607	337	7122											
SLC4A8	9498	broad.mit.edu	37	chr12	51888759	51888759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctaaagctctttgggatgCccgcaaagcaccagccagat	11	8	10	12	1	2	1	0	0	2	1	2	2	2	2	3	1	4	3	3	1	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:51888759C>T	ENST00000453097.2	+	21	3017	c.2800C>T	c.(2800-2802)Ccc>Tcc	p.P934S	SLC4A8_ENST00000358657.3_Missense_Mutation_p.P961S	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)		CTTTGGGATGCCCGCAAAGCA	0.502																																					p.P934S													SLC4A8,NS,carcinoma,-2,1	SLC4A8	292	1	0			c.C2800T												143	123	130					12																	51888759		2203	4300	6503	SO:0001583	missense	9498	exon21			GGGATGCCCGCAA	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.2800C>T	12.37:g.51888759C>T	ENSP00000405812:p.Pro934Ser		215	0	0		298	0.01	4	NM_001039960	8	0	0		Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258952	0.95368	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	D;D	0.88818	-2.43;-2.43	5.52	5.52	0.82312	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.89478	3.035	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.97110	0.993;1.0;1.0	D	0.95831	0.8858	10	0.87932	D	0	.	18.5958	0.91229	0.0:1.0:0.0:0.0	.	961;934;934	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	S	961;934;934;881	ENSP00000351483:P961S;ENSP00000405812:P934S	ENSP00000315789:P934S	P	+	1	0	SLC4A8	50175026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CCC			0.502	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404356.1		NM_004858		T	51888759	C	T	51888759	3	4	96	1	0	0	0	0	1	0	0	0	14682	739	26	2	2882	2	SLC4A8	12	51888759	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	213471	51888759	81963136	338	7123											
ESPL1	9700	broad.mit.edu	37	chr12	53685533	53685533	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcaggccctggcctacggGctgtgcccaacccagccaga	8	6	11	16	1	1	1	1	0	0	1	1	1	1	1	5	3	4	1	5	3	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:53685533G>T	ENST00000257934.4	+	26	5671	c.5580G>T	c.(5578-5580)ggG>ggT	p.G1860G	ESPL1_ENST00000552462.1_Silent_p.G1860G	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1860					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						TGGCCTACGGGCTGTGCCCAA	0.592																																					p.G1860G	Colon(53;1069 1201 2587 5382)												.	ESPL1	158		0			c.G5580T												137	134	135					12																	53685533		2203	4300	6503	SO:0001819	synonymous_variant	9700	exon26			CTACGGGCTGTGC	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.5580G>T	12.37:g.53685533G>T			178	0.0056179775	1		295	0.01	3	NM_012291	89	0	0		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																					0.592	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406899.2		NM_012291		T	53685533	G	T	53685533	2	4	96	1	0	0	0	0	0	0	0	1	5260	1190	42	2		2	ESPL1	12	53685533	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1796774	53685533	80166362	339	7124											
AAAS	8086	broad.mit.edu	37	chr12	53714409	53714409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgaaggcagttcttgtgCcatggtccagccttccaggg	7	10	14	10	0	1	1	0	1	1	0	3	2	3	2	4	4	2	2	4	4	1	3	rs151099565		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:53714409C>T	ENST00000209873.4	-	2	356	c.191G>A	c.(190-192)gGc>gAc	p.G64D	AAAS_ENST00000550286.1_5'UTR|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.G64D	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	64					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGTTCTTGTGCCATGGTCCAG	0.507													C|||	1	0.000199681	0	0	5008	,	,		20025	0.001		0	False		,,,				2504	0				p.G64D													.	AAAS	46		0			c.G191A												166	141	150					12																	53714409		2203	4300	6503	SO:0001583	missense	8086	exon2			CTTGTGCCATGGT	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.191G>A	12.37:g.53714409C>T	ENSP00000209873:p.Gly64Asp		160	0.00625	1		246	0.02	6	NM_015665	132	0	0	Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	CCDS8856.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.74	2.326133	0.41197	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000547757;ENST00000552161	D;D;T	0.83914	-1.65;-1.78;-1.06	4.53	4.53	0.55603	.	0.170233	0.51477	D	0.000096	T	0.79112	0.4391	N	0.22421	0.69	0.80722	D	1	P;D	0.64830	0.675;0.994	B;P	0.56127	0.173;0.792	T	0.74259	-0.3723	10	0.20046	T	0.44	-15.2095	10.9335	0.47233	0.0:0.8101:0.1899:0.0	.	64;64	Q5JB47;Q9NRG9	.;AAAS_HUMAN	D	64	ENSP00000209873:G64D;ENSP00000377908:G64D;ENSP00000448020:G64D	ENSP00000209873:G64D	G	-	2	0	AAAS	52000676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.384000	0.52478	2.503000	0.84419	0.462000	0.41574	GGC			0.507	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405632.1				T	53714409	C	T	53714409	3	4	96	1	0	0	0	0	1	0	0	0	8	739	26	2	1509	2	AAAS	12	53714409	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	28876	53714409	80137486	340	7125											
CALCOCO1	57658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	54117502	54117502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggggggctctgcccacacaCctggccctggcggttcacat	6	7	13	15	1	2	0	1	0	1	0	2	0	2	0	3	6	1	2	3	6	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:54117502C>T	ENST00000550804.1	-	4	385	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.V109M|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.V109M|CALCOCO1_ENST00000547885.1_5'Flank			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	109	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				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)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCCCACACACCTGGCCCTGG	0.597																																					p.V109M													.	.			0			c.G325A												57	59	58					12																	54117502		2203	4300	6503	SO:0001583	missense	57658	exon4			CACACACCTGGCC	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.325G>A	12.37:g.54117502C>T	ENSP00000449960:p.Val109Met		141	0	0		198	0.18	36	NM_020898	14	0.5	7	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654560	0.67472	.	.	ENSG00000012822	ENST00000262059;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623	T;T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	4.79	3.89	0.44902	.	0.000000	0.41396	D	0.000899	T	0.21427	0.0516	L	0.57536	1.79	0.80722	D	1	B;P;B;P	0.37061	0.409;0.525;0.356;0.58	B;B;B;B	0.37550	0.253;0.164;0.164;0.253	T	0.03103	-1.1072	10	0.62326	D	0.03	-19.9069	8.5106	0.33215	0.0:0.7581:0.1572:0.0847	.	102;109;109;109	B4DG60;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;CACO1_HUMAN	M	109;109;109;102;109;109;109;109;109;129;109;109	ENSP00000262059:V109M;ENSP00000447647:V109M;ENSP00000449960:V109M;ENSP00000450083:V109M;ENSP00000448621:V109M;ENSP00000447117:V109M;ENSP00000449058:V129M;ENSP00000446820:V109M;ENSP00000448026:V109M	ENSP00000262059:V109M	V	-	1	0	CALCOCO1	52403769	0.973000	0.33851	1.000000	0.80357	0.967000	0.64934	1.940000	0.40223	1.309000	0.44985	0.655000	0.94253	GTG			0.597	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000407233.2		NM_020898		T	54117502	C	T	54117502	3	4	96	1	0	0	0	0	1	0	0	0	2579	507	18	3	1798	3	CALCOCO1	12	54117502	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	403093	54117502	79734393	341	7126											
HOXC11	3227	broad.mit.edu	37	chr12	54367267	54367267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacggcctggagccatccgGcaagtggcaccatcggaaca	10	5	12	14	3	0	0	0	0	0	0	2	2	1	2	4	5	3	2	4	5	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:54367267G>T	ENST00000546378.1	+	1	358	c.242G>T	c.(241-243)gGc>gTc	p.G81V	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.G81V			O43248	HXC11_HUMAN	homeobox C11	81					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						GAGCCATCCGGCAAGTGGCAC	0.657			T	NUP98	AML																																p.G81V				Dom	yes		12	12q13.3	3227	homeo box C11		L	.	HOXC11	32		0			c.G242T												95	100	99					12																	54367267		2203	4300	6503	SO:0001583	missense	3227	exon1			CATCCGGCAAGTG		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.242G>T	12.37:g.54367267G>T	ENSP00000446680:p.Gly81Val		114	0.0087719298	1		182	0.02	3	NM_014212	0		0	A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220210	0.58560	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.43688	0.94;0.94	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.088023	0.85682	D	0.000000	T	0.45518	0.1346	L	0.52573	1.65	0.58432	D	0.999999	P	0.37276	0.589	P	0.46208	0.507	T	0.48875	-0.8996	10	0.87932	D	0	.	10.3898	0.44162	0.0963:0.0:0.9037:0.0	.	81	O43248	HXC11_HUMAN	V	81	ENSP00000446680:G81V;ENSP00000243082:G81V	ENSP00000243082:G81V	G	+	2	0	HOXC11	52653534	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.181000	0.71988	2.386000	0.81285	0.555000	0.69702	GGC			0.657	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358869.2				T	54367267	G	T	54367267	3	4	96	1	0	0	0	0	1	0	0	0	7325	1203	42	2	244	2	HOXC11	12	54367267	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	249765	54367267	79484628	342	7127											
RDH5	5959	broad.mit.edu	37	chr12	56115041	56115041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagggaccggcagagcctgCccgccagcaatgcctttgtc	7	7	12	15	2	1	1	1	0	0	1	2	2	1	2	5	2	4	2	5	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:56115041C>T	ENST00000257895.5	+	2	225	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	RDH5_ENST00000547072.1_Intron|RDH5_ENST00000553160.1_Intron|RP11-644F5.10_ENST00000550412.1_Intron|RP11-644F5.10_ENST00000549424.1_Intron|RDH5_ENST00000548082.1_Missense_Mutation_p.P25S	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	25					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	GCAGAGCCTGCCCGCCAGCAA	0.622											OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P25S													.	RDH5	25		0			c.C73T												75	69	71					12																	56115041		2203	4300	6503	SO:0001583	missense	5959	exon2			AGCCTGCCCGCCA	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	9940	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 5"	601617	"retinol dehydrogenase 5 (11-cis and 9-cis)"	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.73C>T	12.37:g.56115041C>T	ENSP00000257895:p.Pro25Ser		248	0.0040322581	1	1013	329	0.02	7	NM_001199771	1	0	0	O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.156119	0.00325	.	.	ENSG00000135437	ENST00000257895;ENST00000548082	T;T	0.74947	-0.89;-0.89	5.11	3.12	0.35913	.	0.616929	0.16857	N	0.196715	T	0.46073	0.1374	N	0.05441	-0.05	0.09310	N	1	B	0.20671	0.047	B	0.15870	0.014	T	0.34700	-0.9818	10	0.05525	T	0.97	.	7.0082	0.24848	0.0:0.5676:0.3414:0.0909	.	25	Q92781	RDH1_HUMAN	S	25	ENSP00000257895:P25S;ENSP00000447128:P25S	ENSP00000257895:P25S	P	+	1	0	RDH5	54401308	0.000000	0.05858	0.958000	0.39756	0.006000	0.05464	0.582000	0.23834	1.275000	0.44379	-0.175000	0.13238	CCC			0.622	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407493.1		NM_002905		T	56115041	C	T	56115041	3	4	96	1	0	0	0	0	1	0	0	0	13218	739	26	2	75	2	RDH5	12	56115041	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1747774	56115041	77736854	343	7128											
ERBB3	2065	broad.mit.edu	37	chr12	56491695	56491695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctgctgcctcctgatGataagcagctgctatacagt	9	11	9	12	0	0	3	0	3	0	0	1	3	1	3	3	0	6	4	3	0	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:56491695G>T	ENST00000267101.3	+	21	3027	c.2587G>T	c.(2587-2589)Gat>Tat	p.D863Y	ERBB3_ENST00000450146.2_Missense_Mutation_p.D220Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D804Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D104Y|ERBB3_ENST00000549832.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	863	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)			GCCTCCTGATGATAAGCAGCT	0.557																																					p.D863Y													.	ERBB3	350		0			c.G2587T												126	105	112					12																	56491695		2203	4300	6503	SO:0001583	missense	2065	exon21			CCTGATGATAAGC	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.2587G>T	12.37:g.56491695G>T	ENSP00000267101:p.Asp863Tyr		72	0	0		149	0.02	3	NM_001982	32	0	0	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337750	0.81911	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.075484	0.53938	D	0.000058	D	0.92264	0.7546	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92153	0.5730	10	0.87932	D	0	.	19.3335	0.94306	0.0:0.0:1.0:0.0	.	863	P21860	ERBB3_HUMAN	Y	863;220;804;104	ENSP00000267101:D863Y;ENSP00000399178:D220Y;ENSP00000408340:D804Y;ENSP00000449129:D104Y	ENSP00000267101:D863Y	D	+	1	0	ERBB3	54777962	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	9.539000	0.98076	2.937000	0.99478	0.650000	0.86243	GAT			0.557	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407619.3				T	56491695	G	T	56491695	3	4	96	1	0	0	0	0	1	0	0	0	5215	1290	45	3	2800	3	ERBB3	12	56491695	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	376654	56491695	77360200	344	7129											
ZC3H10	84872	mdanderson.org	37	chr12	56514350	56514350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttgggcgggaccaggatgCctgaccgggacagctatgcc	8	6	16	11	2	0	1	0	1	0	0	0	4	0	4	4	4	3	2	4	4	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:56514350C>T	ENST00000257940.2	+	3	280	c.4C>T	c.(4-6)Cct>Tct	p.P2S	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	2							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GACCAGGATGCCTGACCGGGA	0.607																																					p.P2S													.	.			0			c.C4T												28	30	29					12																	56514350		2202	4299	6501	SO:0001583	missense	84872	exon3			AGGATGCCTGACC	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.4C>T	12.37:g.56514350C>T	ENSP00000257940:p.Pro2Ser		34	0.0294117647	1		33	0.09	3	NM_032786	22	0	0		Missense_Mutation	SNP	ENST00000257940.2	37	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912976	0.33815	.	.	ENSG00000135482	ENST00000257940;ENST00000552345;ENST00000551880;ENST00000546903	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	N	0.22421	0.69	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.51340	-0.8718	9	0.87932	D	0	-16.0579	17.2103	0.86929	0.0:1.0:0.0:0.0	.	2	Q96K80	ZC3HA_HUMAN	S	2	.	ENSP00000257940:P2S	P	+	1	0	ZC3H10	54800617	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.123000	0.50453	2.676000	0.91093	0.655000	0.94253	CCT			0.607	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407826.1		NM_032786		T	56514350	C	T	56514350	3	4	96	1	0	0	0	0	1	0	0	0	17582	739	26	2	6	2	ZC3H10	12	56514350	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	22655	56514350	77337545	345	7130											
BAZ2A	11176	broad.mit.edu	37	chr12	57000452	57000452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgacactctccccgttGaaccttctgcctcatcttct	6	14	5	16	1	6	2	1	2	5	0	7	2	6	2	4	0	2	1	4	0	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:57000452G>T	ENST00000551812.1	-	11	2357	c.2164C>A	c.(2164-2166)Caa>Aaa	p.Q722K	BAZ2A_ENST00000379441.3_Missense_Mutation_p.Q692K|BAZ2A_ENST00000179765.5_Missense_Mutation_p.Q690K|BAZ2A_ENST00000549884.1_Missense_Mutation_p.Q720K	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	722	Lys-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTCCCCGTTGAACCTTCTGC	0.398																																					p.Q722K													.	BAZ2A	263		0			c.C2164A												459	438	445					12																	57000452		1949	4147	6096	SO:0001583	missense	11176	exon11			CCCGTTGAACCTT	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2164C>A	12.37:g.57000452G>T	ENSP00000446880:p.Gln722Lys		163	0	0		229	0.02	5	NM_013449	4	0	0	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.83|11.83	1.756611|1.756611	0.31137|0.31137	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000547650|ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.|T;T;T;T	.|0.26810	.|1.71;1.71;1.71;1.71	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|0.673442	.|0.14545	.|N	.|0.313026	T|T	0.21427|0.21427	0.0516|0.0516	L|L	0.34521|0.34521	1.04|1.04	0.26042|0.26042	N|N	0.981591|0.981591	.|P;P	.|0.45474	.|0.859;0.779	.|P;B	.|0.44394	.|0.448;0.191	T|T	0.05533|0.05533	-1.0879|-1.0879	5|10	.|0.05959	.|T	.|0.93	.|.	14.7394|14.7394	0.69442|0.69442	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|720;722	.|F8VU39;Q9UIF9	.|.;BAZ2A_HUMAN	L|K	147|692;690;722;720	.|ENSP00000368754:Q692K;ENSP00000179765:Q690K;ENSP00000446880:Q722K;ENSP00000447941:Q720K	.|ENSP00000179765:Q690K	F|Q	-|-	3|1	2|0	BAZ2A|BAZ2A	55286719|55286719	0.904000|0.904000	0.30761|0.30761	0.977000|0.977000	0.42913|0.42913	0.988000|0.988000	0.76386|0.76386	4.440000|4.440000	0.59975|0.59975	2.542000|2.542000	0.85734|0.85734	0.563000|0.563000	0.77884|0.77884	TTC|CAA			0.398	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408561.1		NM_013449		T	57000452	G	T	57000452	3	4	96	1	0	0	0	0	1	0	0	0	1331	1299	45	3	3629	3	BAZ2A	12	57000452	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	486102	57000452	76851443	346	7131											
USP15	9958	broad.mit.edu	37	chr12	62783665	62783666	+	Frame_Shift_Ins	INS	-	-	C																															attcagacactcgagttataINScccaccatactggttcttca																								rs371182773		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:62783665_62783666insC	ENST00000280377.5	+	14	1799_1800	c.1741_1742insC	c.(1741-1743)accfs	p.T581fs	USP15_ENST00000393654.3_Frame_Shift_Ins_p.T556fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.T552fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	581	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTCGAGTTATACCCACCATACT	0.386																																					p.T581fs	Melanoma(181;615 2041 39364 49691 50001)												.	USP15	105		0			c.1741_1742insC																																									SO:0001589	frameshift_variant	9958	exon14			AGTTATACCCACC	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1744dupC	12.37:g.62783668_62783668dupC	ENSP00000280377:p.Thr581fs		129	0	0		178	0.03	6	NM_001252078	21	0	0	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Ins	INS	ENST00000280377.5	37	CCDS58251.1																																																																																					0.386	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000407831.2		NM_006313		C	62783666	-	C	62783665	7	5	96	1	0	1	1	0	0	0	0	0	17070	391	14	0	1704	0	USP15	12	62783665	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	5783213	62783665	71068230	347	7132											
OSBPL8	114882	broad.mit.edu	37	chr12	76780378	76780378	+	Frame_Shift_Del	DEL	C	C	-																															cctttggctttttatagaatCctgacaaataccatttcact																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:76780378delC	ENST00000261183.3	-	13	1894	c.1415delG	c.(1414-1416)ggafs	p.G472fs	OSBPL8_ENST00000393249.2_Frame_Shift_Del_p.G430fs|OSBPL8_ENST00000393250.4_Frame_Shift_Del_p.G430fs	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	472					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTATAGAATCCTGACAAATA	0.269																																					p.G472fs													.	OSBPL8	86		0			c.1415delG												58	64	62					12																	76780378		2201	4287	6488	SO:0001589	frameshift_variant	114882	exon13			TAGAATCCTGACA	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1415delG	12.37:g.76780378delC	ENSP00000261183:p.Gly472fs		444	0	0		658	0.01	7	NM_020841	7	0	0	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Frame_Shift_Del	DEL	ENST00000261183.3	37	CCDS31862.1																																																																																					0.269	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000406357.1		NM_020841		-	76780378	C	-	76780378	7	5	96	1	0	1	0	1	0	0	0	0	11300	855	30	0	1302	0	OSBPL8	12	76780378	Frame_Shift_Del	DEL	C	TCGA-VF-A8A8-01A-11D-A435-10	13996713	76780378	57071517	348	7133											
POC1B	282809	broad.mit.edu	37	chr12	89860639	89860639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaatgtaatcttttgaGatttcttttggtaagacctt	12	18	6	5	0	3	2	1	1	2	2	3	3	3	2	1	1	0	2	1	1	4	8			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:89860639G>T	ENST00000313546.3	-	9	1068	c.940C>A	c.(940-942)Ctc>Atc	p.L314I	POC1B_ENST00000541909.1_Missense_Mutation_p.L184I|POC1B_ENST00000393179.4_Missense_Mutation_p.L184I|POC1B_ENST00000378528.2_Silent_p.I100I|POC1B_ENST00000549035.1_Missense_Mutation_p.L272I|POC1B_ENST00000549504.1_Silent_p.I64I	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	314					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						AATCTTTTGAGATTTCTTTTG	0.358																																					p.L314I													POC1B,NS,carcinoma,+2,1	POC1B	41	1	0			c.C940A												196	187	190					12																	89860639		2203	4300	6503	SO:0001583	missense	282809	exon9			TTTTGAGATTTCT	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.940C>A	12.37:g.89860639G>T	ENSP00000323302:p.Leu314Ile		200	0	0		287	0.02	5	NM_172240	9	0	0	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223107	0.39300	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909	T;T;T;T	0.59083	0.51;0.29;0.5;0.45	6.03	4.02	0.46733	.	0.417260	0.28431	N	0.015380	T	0.36936	0.0985	L	0.29908	0.895	0.80722	D	1	B	0.18610	0.029	B	0.12837	0.008	T	0.19549	-1.0302	10	0.20046	T	0.44	.	3.0289	0.06099	0.0938:0.1327:0.4862:0.2873	.	314	Q8TC44	POC1B_HUMAN	I	184;314;272;184	ENSP00000376877:L184I;ENSP00000323302:L314I;ENSP00000447916:L272I;ENSP00000440301:L184I	ENSP00000323302:L314I	L	-	1	0	POC1B	88384770	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	2.599000	0.46231	1.517000	0.48917	0.655000	0.94253	CTC			0.358	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406637.1		NM_172240		T	89860639	G	T	89860639	3	4	96	1	0	0	0	0	1	0	0	0	12193	942	33	3	512	3	POC1B	12	89860639	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	13080261	89860639	43991256	349	7134											
SCYL2	55681	broad.mit.edu	37	chr12	100711674	100711674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctacccatggtttacagaGcactagaagctccttccatt	10	13	6	12	0	1	2	0	0	1	2	3	2	3	2	3	1	4	3	3	1	4	7	rs369328887		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:100711674G>T	ENST00000360820.2	+	10	1803	c.1366G>T	c.(1366-1368)Gca>Tca	p.A456S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	456					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						GGTTTACAGAGCACTAGAAGC	0.343																																					p.A456S													.	SCYL2	99		0			c.G1366T												106	103	104					12																	100711674		2203	4299	6502	SO:0001583	missense	55681	exon10			TACAGAGCACTAG	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.1366G>T	12.37:g.100711674G>T	ENSP00000354061:p.Ala456Ser		213	0.0046948357	1		263	0.01	3	NM_017988	9	0	0	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648722	0.87958	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.34667	1.35;1.35	5.23	5.23	0.72850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	M	0.64404	1.975	0.80722	D	1	P	0.47545	0.897	P	0.54346	0.749	T	0.33189	-0.9878	10	0.19147	T	0.46	.	19.1621	0.93537	0.0:0.0:1.0:0.0	.	456	Q6P3W7	SCYL2_HUMAN	S	456;283;456	ENSP00000448366:A456S;ENSP00000354061:A456S	ENSP00000258506:A283S	A	+	1	0	SCYL2	99235805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.597000	0.87782	0.650000	0.86243	GCA			0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408493.2		NM_017988		T	100711674	G	T	100711674	3	4	96	1	0	0	0	0	1	0	0	0	13971	971	34	2	1400	2	SCYL2	12	100711674	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	10851035	100711674	33140221	350	7135											
ANO4	121601	broad.mit.edu	37	chr12	101477466	101477466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctttaggaagaaatacGaccccagtttgaagccaagt	13	10	9	9	1	0	2	0	1	0	1	1	4	1	3	4	1	2	1	4	1	6	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:101477466G>T	ENST00000392977.3	+	16	1616	c.1406G>T	c.(1405-1407)cGa>cTa	p.R469L	ANO4_ENST00000550015.1_Intron|ANO4_ENST00000392979.3_Missense_Mutation_p.R434L|ANO4_ENST00000299222.9_Intron			Q32M45	ANO4_HUMAN	anoctamin 4	469					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)			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						GAAGAAATACGACCCCAGTTT	0.378										HNSCC(74;0.22)																											p.R434L													ANO4,NS,carcinoma,0,1	ANO4	183	1	0			c.G1301T												99	103	102					12																	101477466		2203	4300	6503	SO:0001583	missense	121601	exon15			AAATACGACCCCA	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.1406G>T	12.37:g.101477466G>T	ENSP00000376703:p.Arg469Leu		127	0	0		156	0.02	3	NM_178826	0		0	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.377802	0.82682	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.72942	-0.7;-0.7	5.78	5.78	0.91487	.	0.074911	0.53938	D	0.000057	D	0.85444	0.5698	M	0.86864	2.845	0.80722	D	1	D;D	0.55800	0.962;0.973	P;P	0.58820	0.846;0.76	D	0.86723	0.1943	10	0.72032	D	0.01	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	469;434	Q32M45;Q32M45-2	ANO4_HUMAN;.	L	434;469	ENSP00000376705:R434L;ENSP00000376703:R469L	ENSP00000376703:R469L	R	+	2	0	ANO4	100001597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	CGA			0.378	ANO4-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000409295.1		NM_178826		T	101477466	G	T	101477466	3	4	96	1	0	0	0	0	1	0	0	0	699	1058	37	1	1355	1	ANO4	12	101477466	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	765792	101477466	32374429	351	7136											
MYBPC1	4604	broad.mit.edu	37	chr12	102053522	102053522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactctggtcattgatataGctgaaagagatgactctggt	11	12	11	7	0	3	4	1	3	2	1	3	5	3	4	0	2	1	2	0	2	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:102053522G>T	ENST00000550270.1	+	17	1765	c.1765G>T	c.(1765-1767)Gct>Tct	p.A589S	MYBPC1_ENST00000441232.1_Missense_Mutation_p.A589S|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A589S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A614S|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A563S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A490S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A577S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.A614S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A589S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A576S|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.A575S|MYBPC1_ENST00000452455.2_Missense_Mutation_p.A589S|MYBPC1_ENST00000549145.1_Missense_Mutation_p.A602S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A589S|MYBPC1_ENST00000536007.1_Missense_Mutation_p.A570S|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	589	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATTGATATAGCTGAAAGAGA	0.443																																					p.A614S													.	MYBPC1	235		0			c.G1840T												135	120	125					12																	102053522		2203	4300	6503	SO:0001583	missense	4604	exon19			GATATAGCTGAAA		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1765G>T	12.37:g.102053522G>T	ENSP00000449702:p.Ala589Ser		148	0.0067567568	1		192	0.03	5	NM_206819	0		0	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501241	0.64298	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000092	T	0.80476	0.4630	L	0.48362	1.52	0.42452	D	0.99275	B;P;D;P;P;B;P;P;P;P	0.57257	0.277;0.73;0.979;0.885;0.556;0.107;0.684;0.885;0.939;0.861	B;P;D;P;B;B;P;P;P;P	0.66084	0.305;0.669;0.941;0.669;0.403;0.141;0.607;0.728;0.814;0.607	T	0.82192	-0.0579	10	0.87932	D	0	.	19.2175	0.93783	0.0:0.0:1.0:0.0	.	570;577;589;589;576;563;589;589;614;614	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	S	563;589;589;589;576;575;614;602;589;614;589;570;577;614;490;589	ENSP00000448175:A563S;ENSP00000400908:A589S;ENSP00000388989:A589S;ENSP00000353822:A589S;ENSP00000376665:A576S;ENSP00000447362:A575S;ENSP00000354845:A614S;ENSP00000447660:A602S;ENSP00000447900:A589S;ENSP00000440034:A589S;ENSP00000446128:A570S;ENSP00000442847:A577S;ENSP00000354849:A614S;ENSP00000447116:A490S;ENSP00000449702:A589S	ENSP00000353822:A589S	A	+	1	0	MYBPC1	100577653	1.000000	0.71417	0.850000	0.33497	0.707000	0.40811	4.108000	0.57817	2.538000	0.85594	0.655000	0.94253	GCT			0.443	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000408806.1				T	102053522	G	T	102053522	3	4	96	1	0	0	0	0	1	0	0	0	10027	971	34	2	1914	2	MYBPC1	12	102053522	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	576056	102053522	31798373	352	7137											
GIT2	9815	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	110376285	110376285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcggtgctagggagagtggGgcttggggccacatggggtt	5	10	20	6	1	0	1	0	0	0	1	1	2	0	1	1	8	1	3	1	8	1	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:110376285G>T	ENST00000355312.3	-	18	1902	c.1903C>A	c.(1903-1905)Ccc>Acc	p.P635T	GIT2_ENST00000548655.1_5'UTR|GIT2_ENST00000338373.5_Missense_Mutation_p.P537T|GIT2_ENST00000457474.2_Missense_Mutation_p.P557T|GIT2_ENST00000553118.1_Missense_Mutation_p.P507T|GIT2_ENST00000551209.1_Missense_Mutation_p.P584T|GIT2_ENST00000361006.5_Missense_Mutation_p.P605T|GIT2_ENST00000343646.5_Missense_Mutation_p.P525T|GIT2_ENST00000356259.4_Missense_Mutation_p.P522T|GIT2_ENST00000354574.4_Missense_Mutation_p.P557T|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.P585T	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	635					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						GGGAGAGTGGGGCTTGGGGCC	0.507																																					p.P635T													.	.			0			c.C1903A												204	196	198					12																	110376285		2203	4300	6503	SO:0001583	missense	9815	exon18			GAGTGGGGCTTGG	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.1903C>A	12.37:g.110376285G>T	ENSP00000347464:p.Pro635Thr		162	0	0		197	0.06	12	NM_057169	24	0.08	2	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889922	0.52014	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000552978;ENST00000542273;ENST00000546613;ENST00000548000;ENST00000548655	T;T;T;T;T;T;T;T;T;T	0.74002	-0.69;-0.77;-0.6;-0.57;-0.73;-0.55;-0.57;-0.67;-0.65;-0.8	5.78	4.7	0.59300	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.204699	0.53938	D	0.000054	T	0.69269	0.3092	L	0.45581	1.43	0.22880	N	0.998618	B;B;B;B;B;B	0.26318	0.036;0.036;0.0;0.044;0.146;0.016	B;B;B;B;B;B	0.39339	0.164;0.114;0.004;0.253;0.297;0.053	T	0.57406	-0.7817	10	0.30854	T	0.27	.	6.6465	0.22939	0.1254:0.1869:0.6877:0.0	.	557;557;507;635;543;605	Q14161-10;F8WAK2;Q14161-11;Q14161;B4E027;Q14161-5	.;.;.;GIT2_HUMAN;.;.	T	635;585;557;537;525;522;557;605;507;584;21;543;21;37;37	ENSP00000347464:P635T;ENSP00000353312:P585T;ENSP00000346585:P557T;ENSP00000340342:P537T;ENSP00000340938:P525T;ENSP00000348595:P522T;ENSP00000391813:P557T;ENSP00000354282:P605T;ENSP00000447465:P507T;ENSP00000448832:P584T	ENSP00000340342:P537T	P	-	1	0	GIT2	108860668	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.692000	0.47018	2.722000	0.93159	0.650000	0.86243	CCC			0.507	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403407.1		NM_057169		T	110376285	G	T	110376285	3	4	96	1	0	0	0	0	1	0	0	0	6411	1232	43	3	388	3	GIT2	12	110376285	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8322763	110376285	23475610	353	7138											
IFT81	28981	broad.mit.edu	37	chr12	110565264	110565264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actataatttaatcacgtttGattccttggagccaatgcaa	13	14	6	8	1	1	1	1	1	0	0	2	2	2	2	2	1	2	2	2	1	5	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:110565264G>T	ENST00000242591.5	+	2	585	c.79G>T	c.(79-81)Gat>Tat	p.D27Y	IFT81_ENST00000361948.4_Missense_Mutation_p.D27Y|IFT81_ENST00000552912.1_Missense_Mutation_p.D27Y	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	27	CH (calponin-homology)-like region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATCACGTTTGATTCCTTGGA	0.348																																					p.D27Y													.	IFT81	86		0			c.G79T												58	55	56					12																	110565264		2203	4300	6503	SO:0001583	missense	28981	exon2			ACGTTTGATTCCT	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.79G>T	12.37:g.110565264G>T	ENSP00000242591:p.Asp27Tyr		263	0.0076045627	2		374	0.02	7	NM_014055	10	0	0	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570739	0.86542	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.90789	0.7108	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.91119	0.4928	10	0.87932	D	0	-26.6014	20.7342	0.99715	0.0:0.0:1.0:0.0	.	27;27	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	Y	27	ENSP00000355372:D27Y;ENSP00000449718:D27Y;ENSP00000242591:D27Y;ENSP00000446950:D27Y	ENSP00000242591:D27Y	D	+	1	0	IFT81	109049647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.402000	0.97298	2.906000	0.99361	0.655000	0.94253	GAT			0.348	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403529.1		NM_014055		T	110565264	G	T	110565264	3	4	96	1	0	0	0	0	1	0	0	0	7580	1290	45	3	81	3	IFT81	12	110565264	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	188979	110565264	23286631	354	7139											
KNTC1	9735	broad.mit.edu	37	chr12	123087235	123087235	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgcccaaactagactGccttttcacctgatattctt	9	14	5	13	0	3	2	2	1	1	1	3	2	3	2	3	0	4	1	3	0	3	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:123087235G>T	ENST00000333479.7	+	46	4950	c.4773G>T	c.(4771-4773)ctG>ctT	p.L1591L	KNTC1_ENST00000537348.1_Silent_p.L16L|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1591					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAACTAGACTGCCTTTTCACC	0.363																																					p.L1591L													.	KNTC1	182		0			c.G4773T												106	98	101					12																	123087235		1886	4115	6001	SO:0001819	synonymous_variant	9735	exon46			TAGACTGCCTTTT		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4773G>T	12.37:g.123087235G>T			195	0	0		251	0.03	7	NM_014708	46	0	0	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																					0.363	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396110.2				T	123087235	G	T	123087235	2	4	96	1	0	0	0	0	0	0	0	1	8443	1306	46	2		2	KNTC1	12	123087235	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	12521971	123087235	10764660	355	7140											
UBC	7316	broad.mit.edu	37	chr12	125398024	125398024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgctttgacgttctcgatGgtgtcactgggctcgacctc	4	15	11	11	3	2	1	1	1	1	0	5	3	2	1	1	2	1	3	1	2	0	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:125398024G>A	ENST00000538617.1	-	3	610	c.294C>T	c.(292-294)acC>acT	p.T98T	UBC_ENST00000536769.1_Silent_p.T98T|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.T98T|UBC_ENST00000339647.5_Silent_p.T98T			P0CG48	UBC_HUMAN	ubiquitin C	478	Ubiquitin-like 2. {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)		CGTTCTCGATGGTGTCACTGG	0.562																																					p.T98T													UBC,colon,carcinoma,0,2	UBC	79	2	0			c.C294T												289	249	263					12																	125398024		2203	4300	6503	SO:0001819	synonymous_variant	7316	exon2			CTCGATGGTGTCA		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		ENST00000538617.1:c.294C>T	12.37:g.125398024G>A			199	0	0		349	0.01	5	NM_021009	1355	0	0	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37																																																																																						0.562	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000400179.1		NM_021009		A	125398024	G	A	125398024	2	1	96	1	0	0	0	0	0	0	0	1	16866	1335	47	3		3	UBC	12	125398024	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2310789	125398024	8453871	356	7141											
GOLGA3	2802	broad.mit.edu	37	chr12	133351804	133351804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttcatgttgttcttcaGctccgacacttttgcctgga	5	16	9	11	1	4	0	2	0	2	0	5	2	5	1	2	2	2	3	2	2	0	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr12:133351804G>T	ENST00000450791.2	-	21	4249	c.4066C>A	c.(4066-4068)Ctg>Atg	p.L1356M	GOLGA3_ENST00000204726.3_Missense_Mutation_p.L1356M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L1356M			Q08378	GOGA3_HUMAN	golgin A3	1356	Gln-rich.				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)		TTGTTCTTCAGCTCCGACACT	0.562																																					p.L1356M													.	GOLGA3	234		0			c.C4066A												93	79	84					12																	133351804		2203	4300	6503	SO:0001583	missense	2802	exon22			TCTTCAGCTCCGA	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.4066C>A	12.37:g.133351804G>T	ENSP00000410378:p.Leu1356Met		110	0.0090909091	1		139	0.04	5	NM_005895	26	0	0	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848962	0.51164	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.79454	-1.27;-1.27;1.0	6.07	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.83193	0.5201	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82756	-0.0300	10	0.59425	D	0.04	.	10.2361	0.43284	0.2009:0.0:0.7991:0.0	.	1356;1356	Q08378-2;Q08378	.;GOGA3_HUMAN	M	1356	ENSP00000204726:L1356M;ENSP00000410378:L1356M;ENSP00000409303:L1356M	ENSP00000204726:L1356M	L	-	1	2	GOLGA3	131861877	1.000000	0.71417	0.884000	0.34674	0.382000	0.30200	3.877000	0.56123	0.912000	0.36772	-0.137000	0.14449	CTG			0.562	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397569.2		NM_005895		T	133351804	G	T	133351804	3	4	96	1	0	0	0	0	1	0	0	0	6568	962	34	2	442	2	GOLGA3	12	133351804	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7953780	133351804	500091	357	7142											
CENPJ	55835	hgsc.bcm.edu;broad.mit.edu	37	chr13	25480948	25480948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccattttaaacagcggctGgtcctcggaagtgctctggt	8	12	11	10	2	1	0	0	0	1	0	4	1	3	1	2	4	3	2	2	4	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:25480948G>T	ENST00000381884.4	-	7	1413	c.1228C>A	c.(1228-1230)Cag>Aag	p.Q410K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q410K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	410					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AACAGCGGCTGGTCCTCGGAA	0.403																																					p.Q410K													.	.			0			c.C1228A												88	86	87					13																	25480948		2203	4300	6503	SO:0001583	missense	55835	exon7			GCGGCTGGTCCTC	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1228C>A	13.37:g.25480948G>T	ENSP00000371308:p.Gln410Lys		122	0	0		111	0.05	6	NM_018451	3	0	0	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409110	0.25378	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18174	2.23;2.23	5.75	4.9	0.64082	.	0.445891	0.23063	N	0.052347	T	0.20981	0.0505	M	0.76574	2.34	0.22240	N	0.999263	B	0.10296	0.003	B	0.08055	0.003	T	0.24870	-1.0148	10	0.14656	T	0.56	.	13.5366	0.61650	0.0:0.0:0.7175:0.2825	.	410	Q9HC77	CENPJ_HUMAN	K	410	ENSP00000371308:Q410K;ENSP00000441090:Q410K	ENSP00000371308:Q410K	Q	-	1	0	CENPJ	24378948	0.004000	0.15560	0.270000	0.24601	0.267000	0.26476	1.060000	0.30530	1.438000	0.47492	0.655000	0.94253	CAG			0.403	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044209.1		NM_018451		T	25480948	G	T	25480948	3	4	96	1	0	0	0	0	1	0	0	0	3236	1357	47	3	2832	3	CENPJ	13	25480948	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		25480948	89688930	358	7143											
FLT3	2322	broad.mit.edu	37	chr13	28578254	28578254	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctctgctgaaaggtcGcctgttttggtaggtgtgag	6	14	13	8	1	2	2	0	2	2	0	4	2	2	2	1	3	1	3	1	3	2	3	rs191501493		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:28578254G>A	ENST00000241453.7	-	24	2998	c.2917C>T	c.(2917-2919)Cga>Tga	p.R973*	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000380982.4_Nonsense_Mutation_p.R976*|FLT3_ENST00000537084.1_Nonsense_Mutation_p.R932*	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	973					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|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)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAAAGGTCGCCTGTTTTGG	0.468			"Mis, O"		"AML, ALL"								G|||	1	0.000199681	0	0	5008	,	,		17294	0.001		0	False		,,,				2504	0				p.R973X				Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	FLT3,colon,carcinoma,0,1	FLT3	15525	1	0			c.C2917T												125	112	117					13																	28578254		2203	4300	6503	SO:0001587	stop_gained	2322	exon24			AAGGTCGCCTGTT	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2917C>T	13.37:g.28578254G>A	ENSP00000241453:p.Arg973*		121	0	0		115	0.03	3	NM_004119	3	0	0	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Nonsense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	33	5.218730	0.95104	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	4.54	1.47	0.22746	.	0.934398	0.08923	N	0.874192	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2627	0.10749	0.1161:0.0:0.442:0.4419	.	.	.	.	X	973;976;932	.	ENSP00000241453:R973X	R	-	1	2	FLT3	27476254	0.598000	0.26882	0.573000	0.28510	0.167000	0.22549	0.763000	0.26517	0.484000	0.27630	-0.314000	0.08810	CGA			0.468	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000044319.2				A	28578254	G	A	28578254	4	1	96	1	0	0	0	0	0	1	0	0	5955	1095	38	1	68	1	FLT3	13	28578254	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3097306	28578254	86591624	359	7144											
KPNA3	3839	broad.mit.edu	37	chr13	50306542	50306543	+	Frame_Shift_Ins	INS	-	-	A																															gacatttgactagaattggtINSaaaatcccagattttattaa																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:50306542_50306543insA	ENST00000261667.3	-	6	761_762	c.347_348insT	c.(346-348)ttafs	p.L116fs		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	116					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-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;1.42e-09)		CTAGAATTGGTAAAATCCCAGA	0.282																																					p.L116fs													.	KPNA3	53		0			c.348_349insT																																									SO:0001589	frameshift_variant	3839	exon6			AATTGGTAAAATC	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.348dupT	13.37:g.50306546_50306546dupA	ENSP00000261667:p.Leu116fs		451	0	0		399	0.02	9	NM_002267	8	0	0	O00191|O43195|Q5JVM9|Q96AA7	Frame_Shift_Ins	INS	ENST00000261667.3	37	CCDS9421.1																																																																																					0.282	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044939.2		NM_002267		A	50306543	-	A	50306542	7	5	96	1	0	1	1	0	0	0	0	0	8446	1635	57	0	1265	0	KPNA3	13	50306542	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	21728288	50306542	64863336	360	7145											
SLC15A1	6564	broad.mit.edu	37	chr13	99371514	99371514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctacagccatgagagcaGcaggaaccccaaaggccagt	13	3	13	12	0	0	1	0	1	0	1	0	3	0	2	4	3	5	3	4	3	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:99371514G>T	ENST00000376503.5	-	8	672	c.617C>A	c.(616-618)gCt>gAt	p.A206D		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	206					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)	CATGAGAGCAGCAGGAACCCC	0.433																																					p.A206D													.	SLC15A1	92		0			c.C617A												144	146	146					13																	99371514		2203	4300	6503	SO:0001583	missense	6564	exon8			AGAGCAGCAGGAA	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.617C>A	13.37:g.99371514G>T	ENSP00000365686:p.Ala206Asp		104	0	0		112	0.03	3	NM_005073	2	0	0	Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379997	0.95945	.	.	ENSG00000088386	ENST00000376503	T	0.08102	3.13	5.9	5.9	0.94986	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61773	-0.6994	10	0.87932	D	0	-20.999	20.2789	0.98501	0.0:0.0:1.0:0.0	.	206	P46059	S15A1_HUMAN	D	206	ENSP00000365686:A206D	ENSP00000365686:A206D	A	-	2	0	SLC15A1	98169515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.823000	0.99369	2.788000	0.95919	0.650000	0.86243	GCT			0.433	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045560.3		NM_005073		T	99371514	G	T	99371514	3	4	96	1	0	0	0	0	1	0	0	0	14421	971	34	2	1573	2	SLC15A1	13	99371514	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	49064972	99371514	15798364	361	7146											
GRK1	6011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	114325882	114325882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgccctcttctacacggCgcagatcatctgcggcctgg	5	8	12	16	5	4	1	1	0	3	1	4	1	4	1	2	3	2	1	2	3	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr13:114325882C>T	ENST00000335678.6	+	3	1128	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	299	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)			TTCTACACGGCGCAGATCATC	0.627																																					p.A299V													.	.			0			c.C896T												37	42	40					13																	114325882		2069	4205	6274	SO:0001583	missense	6011	exon3			ACACGGCGCAGAT			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.896C>T	13.37:g.114325882C>T	ENSP00000334876:p.Ala299Val		30	0	0		25	0.32	8	NM_002929	0		0	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37		.	.	.	.	.	.	.	.	.	.	c	25.6	4.650763	0.87958	.	.	ENSG00000185974	ENST00000335678	T	0.24723	1.84	4.43	4.43	0.53597	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	0.52075	0.1712	.	.	.	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.58940	-0.7547	9	0.87932	D	0	-25.8914	14.8992	0.70666	0.0:1.0:0.0:0.0	.	299	Q15835	RK_HUMAN	V	299	ENSP00000334876:A299V	ENSP00000334876:A299V	A	+	2	0	GRK1	113373883	1.000000	0.71417	0.935000	0.37517	0.713000	0.41058	6.987000	0.76206	2.148000	0.66965	0.506000	0.49869	GCG			0.627	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470655.1		NM_002929		T	114325882	C	T	114325882	3	4	96	1	0	0	0	0	1	0	0	0	6805	768	27	1	906	1	GRK1	13	114325882	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	14954368	114325882	843996	362	7147											
RPGRIP1	57096	broad.mit.edu	37	chr14	21756201	21756201	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatagatgctatacctctGgtgctaccagcctcaaaagg	12	9	9	11	0	2	1	1	0	1	1	2	2	2	1	3	2	5	2	3	2	6	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:21756201G>T	ENST00000400017.2	+	1	66	c.66G>T	c.(64-66)ctG>ctT	p.L22L	RPGRIP1_ENST00000556336.1_Silent_p.L22L|RPGRIP1_ENST00000557771.1_Silent_p.L22L|RPGRIP1_ENST00000206660.6_Silent_p.L22L	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	22					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTATACCTCTGGTGCTACCAG	0.473																																					p.L22L													.	RPGRIP1	213		0			c.G66T												152	138	142					14																	21756201		1893	4118	6011	SO:0001819	synonymous_variant	57096	exon1			ACCTCTGGTGCTA	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.66G>T	14.37:g.21756201G>T			170	0.0176470588	3		173	0.03	6	NM_020366	0		0	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	CCDS45080.1																																																																																					0.473	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410258.1		NM_020366		T	21756201	G	T	21756201	2	4	96	1	0	0	0	0	0	0	0	1	13572	1335	47	3		3	RPGRIP1	14	21756201	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		21756201	85593339	363	7148											
PSME2	5721	mdanderson.org	37	chr14	24612871	24612871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcatgcaccaaggcccGgtaatccatctgcaatgtgg	9	9	10	13	2	2	0	1	0	1	0	4	0	3	0	3	3	2	4	3	3	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:24612871G>A	ENST00000216802.5	-	10	1201	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	EMC9_ENST00000419198.2_5'Flank|PSME2_ENST00000560410.1_Missense_Mutation_p.R177W|EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000560403.1_5'Flank|PSME2_ENST00000471700.2_5'UTR|EMC9_ENST00000216799.4_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	188					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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		ACCAAGGCCCGGTAATCCATC	0.527																																					p.R188W													PSME2,NS,carcinoma,0,3	PSME2	0	3	0			c.C562T												67	68	68					14																	24612871		2203	4300	6503	SO:0001583	missense	5721	exon10			AGGCCCGGTAATC		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"Proteasome (prosome, macropain) subunits"	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.562C>T	14.37:g.24612871G>A	ENSP00000216802:p.Arg188Trp		53	0	0		58	0.05	3	NM_002818	643	0	1	Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183745	0.57800	.	.	ENSG00000100911	ENST00000216802	T	0.51817	0.69	4.84	4.84	0.62591	Proteasome activator pa28, REG beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	M	0.74881	2.28	0.80722	D	1	B	0.25743	0.133	B	0.14023	0.01	T	0.51826	-0.8656	10	0.59425	D	0.04	2.2321	13.6179	0.62120	0.0:0.0:1.0:0.0	.	188	Q9UL46	PSME2_HUMAN	W	188	ENSP00000216802:R188W	ENSP00000216802:R188W	R	-	1	2	PSME2	23682711	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.326000	0.59241	2.680000	0.91292	0.561000	0.74099	CGG			0.527	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071918.3		NM_002818		A	24612871	G	A	24612871	3	1	96	1	0	0	0	0	1	0	0	0	12727	1115	39	1	165	1	PSME2	14	24612871	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2856670	24612871	82736669	364	7149											
ADCY4	196883	broad.mit.edu	37	chr14	24795332	24795332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaacttggcatccccGgtgtccagttcatcatctag	9	11	10	11	1	3	1	2	0	1	1	5	2	5	2	3	3	1	2	3	3	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:24795332G>A	ENST00000310677.4	-	13	1721	c.1608C>T	c.(1606-1608)acC>acT	p.T536T	ADCY4_ENST00000418030.2_Silent_p.T536T|ADCY4_ENST00000396747.3_Silent_p.T229T|ADCY4_ENST00000554068.2_Silent_p.T536T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	536					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)		TGGCATCCCCGGTGTCCAGTT	0.597																																					p.T536T													.	ADCY4	86		0			c.C1608T												83	79	80					14																	24795332		2203	4300	6503	SO:0001819	synonymous_variant	196883	exon13			ATCCCCGGTGTCC	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.1608C>T	14.37:g.24795332G>A			124	0	0		114	0.04	5	NM_001198592	2	0	0	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328042	0.24080	.	.	ENSG00000129467	ENST00000556932	.	.	.	4.58	-9.16	0.00694	.	.	.	.	.	T	0.42765	0.1217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	.	5.2021	0.15271	0.3102:0.0:0.4286:0.2612	.	.	.	.	L	109	.	.	P	-	2	0	ADCY4	23865172	0.001000	0.12720	0.844000	0.33320	0.968000	0.65278	-3.222000	0.00551	-1.817000	0.01219	-0.423000	0.05987	CCG			0.597	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000073200.4				A	24795332	G	A	24795332	2	1	96	1	0	0	0	0	0	0	0	1	296	1103	39	1		1	ADCY4	14	24795332	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	182461	24795332	82554208	365	7150											
OTX2	5015	mdanderson.org	37	chr14	57268936	57268936	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctagaggggggagtgaattgGccacttgttccactctctga	8	11	13	9	0	1	3	0	2	1	1	3	4	2	4	2	4	0	1	2	4	2	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:57268936G>T	ENST00000555006.1	-	4	795	c.387C>A	c.(385-387)ggC>ggA	p.G129G	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000339475.5_Silent_p.G137G|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Silent_p.G129G			P32243	OTX2_HUMAN	orthodenticle homeobox 2	129					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAGTGAATTGGCCACTTGTTC	0.527																																					p.G137G													.	.			0			c.C411A												102	91	94					14																	57268936		2203	4300	6503	SO:0001819	synonymous_variant	5015	exon3			GAATTGGCCACTT	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.387C>A	14.37:g.57268936G>T			58	0	0		59	0.05	3	NM_001270525	25	0	0	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Silent	SNP	ENST00000555006.1	37	CCDS41960.1																																																																																					0.527	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411522.1		NM_021728.		T	57268936	G	T	57268936	2	4	96	1	0	0	0	0	0	0	0	1	11338	1190	42	2		2	OTX2	14	57268936	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	32473604	57268936	50080604	366	7151											
YLPM1	56252	broad.mit.edu	37	chr14	75295965	75295965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggaaacgtgactgggaGgccattgccagcagaatgga	15	5	14	7	1	0	2	0	1	0	1	0	5	0	5	2	4	3	1	2	4	4	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:75295965G>T	ENST00000552421.1	+	18	4219	c.4095G>T	c.(4093-4095)gaG>gaT	p.E1365D	YLPM1_ENST00000325680.7_Missense_Mutation_p.E2071D			P49750	YLPM1_HUMAN	YLP motif containing 1	1876					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)		GTGACTGGGAGGCCATTGCCA	0.478																																					p.E2071D													.	YLPM1	298		0			c.G6213T												146	139	141					14																	75295965		1988	4164	6152	SO:0001583	missense	56252	exon19			CTGGGAGGCCATT	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.4095G>T	14.37:g.75295965G>T	ENSP00000447921:p.Glu1365Asp		211	0	0		231	0.02	5	NM_019589	133	0	0	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278040	0.59758	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.79	4.71	0.59529	.	0.000000	0.64402	D	0.000004	T	0.47801	0.1465	L	0.34521	1.04	0.80722	D	1	P	0.40970	0.734	P	0.46510	0.519	T	0.45906	-0.9229	9	0.52906	T	0.07	-14.5526	10.3415	0.43882	0.146:0.0:0.854:0.0	.	2071	P49750-4	.	D	1365;2071;1784	.	ENSP00000324463:E2071D	E	+	3	2	YLPM1	74365718	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.536000	0.36072	2.724000	0.93272	0.557000	0.71058	GAG			0.478	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000404450.1		NM_019589		T	75295965	G	T	75295965	3	4	96	1	0	0	0	0	1	0	0	0	17510	991	35	3	6287	3	YLPM1	14	75295965	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	18027029	75295965	32053575	367	7152											
TECPR2	9895	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr14	102904488	102904488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgttgccgggcgccgggCtgcgctggcagaagtttgaa	5	7	18	11	6	0	2	0	1	0	1	0	2	0	2	2	3	2	5	2	3	2	2	rs368111236		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:102904488C>G	ENST00000359520.7	+	10	2750	c.2524C>G	c.(2524-2526)Ctg>Gtg	p.L842V	TECPR2_ENST00000558678.1_Missense_Mutation_p.L842V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	842					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						GGGCGCCGGGCTGCGCTGGCA	0.657											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L842V													.	.			0			c.C2524G												66	69	68					14																	102904488		2203	4299	6502	SO:0001583	missense	9895	exon10			GCCGGGCTGCGCT	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.2524C>G	14.37:g.102904488C>G	ENSP00000352510:p.Leu842Val		60	0	0	1370	61	0.07	4	NM_001172631	8	0.13	1	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289132	0.59976	.	.	ENSG00000196663	ENST00000359520	T	0.16597	2.33	5.83	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	L	0.34521	1.04	0.50632	D	0.999885	P;P	0.49635	0.926;0.926	B;B	0.40134	0.256;0.32	T	0.03750	-1.1007	10	0.51188	T	0.08	.	11.989	0.53163	0.1217:0.8128:0.0:0.0655	.	842;842	A5PKY3;O15040	.;TCPR2_HUMAN	V	842	ENSP00000352510:L842V	ENSP00000352510:L842V	L	+	1	2	TECPR2	101974241	0.996000	0.38824	1.000000	0.80357	0.864000	0.49448	3.210000	0.51129	1.595000	0.50050	0.644000	0.83932	CTG			0.657	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415056.2		NM_014844		G	102904488	C	G	102904488	3	3	96	1	0	0	0	0	1	0	0	0	15767	796	28	5	2558	5	TECPR2	14	102904488	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	27608523	102904488	4445052	368	7153											
AHNAK2	113146	broad.mit.edu	37	chr14	105413995	105413995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgtcacttccgccttgGggcctttcaggtccagcttg	3	12	13	13	1	2	0	2	0	0	0	4	0	4	0	4	4	1	2	4	4	0	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr14:105413995G>T	ENST00000333244.5	-	7	7912	c.7793C>A	c.(7792-7794)cCc>cAc	p.P2598H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2598						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)			TTCCGCCTTGGGGCCTTTCAG	0.617																																					p.P2598H													.	AHNAK2	719		0			c.C7793A												123	135	131					14																	105413995		1865	4092	5957	SO:0001583	missense	113146	exon7			GCCTTGGGGCCTT	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.7793C>A	14.37:g.105413995G>T	ENSP00000353114:p.Pro2598His		210	0.0047619048	1		237	0.02	4	NM_138420	0		0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	15.32	2.797709	0.50208	.	.	ENSG00000185567	ENST00000333244	T	0.03242	4.0	3.56	3.56	0.40772	.	.	.	.	.	T	0.16685	0.0401	M	0.70842	2.15	0.28732	N	0.902457	D	0.89917	1.0	D	0.72075	0.976	T	0.01476	-1.1345	9	0.56958	D	0.05	.	15.1833	0.72978	0.0:0.0:1.0:0.0	.	2598	Q8IVF2	AHNK2_HUMAN	H	2598	ENSP00000353114:P2598H	ENSP00000353114:P2598H	P	-	2	0	AHNAK2	104485040	0.001000	0.12720	0.031000	0.17742	0.245000	0.25701	0.434000	0.21494	1.543000	0.49345	0.485000	0.47835	CCC			0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420		T	105413995	G	T	105413995	3	4	96	1	0	0	0	0	1	0	0	0	415	1232	43	3	9598	3	AHNAK2	14	105413995	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2509507	105413995	1935545	369	7154											
PLA2G4F	255189	mdanderson.org	37	chr15	42439368	42439368	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccccagaggtcgatgAgggacacgctgtggccactg	8	5	17	11	2	0	2	0	1	0	1	1	5	0	4	3	5	0	1	3	5	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:42439368A>G	ENST00000382396.4	-	13	1459	c.1373T>C	c.(1372-1374)cTc>cCc	p.L458P	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.L460P			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	458	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)		GAGGTCGATGAGGGACACGCT	0.587																																					p.L458P													.	.			0			c.T1373C												56	51	53					15																	42439368		2203	4299	6502	SO:0001583	missense	255189	exon13			TCGATGAGGGACA		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.1373T>C	15.37:g.42439368A>G	ENSP00000371833:p.Leu458Pro		59	0	0		52	0.06	3	NM_213600	0		0	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	A	5.921	0.353992	0.11182	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.20069	2.1;2.1	5.11	3.98	0.46160	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.399608	0.23187	N	0.050958	T	0.27489	0.0675	M	0.76002	2.32	0.38781	D	0.954765	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.06552	-1.0820	10	0.72032	D	0.01	-11.4994	13.1293	0.59371	0.9295:0.0:0.0705:0.0	.	245;458	A2RRC4;Q68DD2	.;PA24F_HUMAN	P	454;460;458;458	ENSP00000380442:L460P;ENSP00000371833:L458P	ENSP00000290497:L454P	L	-	2	0	PLA2G4F	40226660	0.996000	0.38824	0.085000	0.20634	0.001000	0.01503	4.246000	0.58740	0.359000	0.24239	-1.447000	0.01057	CTC			0.587	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000420463.1		NM_213600		G	42439368	A	G	42439368	3	3	96	1	0	0	0	0	1	0	0	0	12023	304	11	4	1208	4	PLA2G4F	15	42439368	Missense_Mutation	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10		42439368	60092024	370	7155											
CAPN3	825	broad.mit.edu	37	chr15	42703172	42703172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgacagtttcatctgctGcttcgttaggctggagggca	6	14	12	9	1	2	1	1	1	1	0	3	2	2	2	0	3	2	6	0	3	1	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:42703172G>T	ENST00000397163.3	+	22	2573	c.2354G>T	c.(2353-2355)tGc>tTc	p.C785F	CAPN3_ENST00000561817.1_Missense_Mutation_p.C120F|CAPN3_ENST00000356316.3_Missense_Mutation_p.C692F|CAPN3_ENST00000569136.1_Missense_Mutation_p.C120F|CAPN3_ENST00000397204.4_Missense_Mutation_p.C120F|CAPN3_ENST00000357568.3_Missense_Mutation_p.C779F|CAPN3_ENST00000318023.7_Missense_Mutation_p.C779F|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.C693F|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000397200.4_Missense_Mutation_p.C273F|CAPN3_ENST00000337571.4_Missense_Mutation_p.C120F	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	785	Domain IV.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTCATCTGCTGCTTCGTTAGG	0.522																																					p.C785F													.	CAPN3	172		0			c.G2354T												203	163	176					15																	42703172		2203	4299	6502	SO:0001583	missense	825	exon22			TCTGCTGCTTCGT	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2354G>T	15.37:g.42703172G>T	ENSP00000380349:p.Cys785Phe		70	0	0		66	0.08	5	NM_000070	9	0	0	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917617	0.92249	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	D	0.97056	0.9038	M	0.72894	2.215	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	0.999;0.999;1.0;1.0;0.998;0.999;0.999	D	0.97240	0.9890	10	0.87932	D	0	.	19.3595	0.94431	0.0:0.0:1.0:0.0	.	650;698;120;693;779;785;692	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	F	692;273;785;779;693;779;273;120;120	ENSP00000348667:C692F;ENSP00000380349:C785F;ENSP00000350181:C779F;ENSP00000183936:C693F;ENSP00000326281:C779F;ENSP00000380384:C273F;ENSP00000336840:C120F;ENSP00000380387:C120F	ENSP00000326281:C779F	C	+	2	0	CAPN3	40490464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.818000	0.97014	0.655000	0.94253	TGC			0.522	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421075.1				T	42703172	G	T	42703172	3	4	96	1	0	0	0	0	1	0	0	0	2630	1319	46	2	2492	2	CAPN3	15	42703172	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	263804	42703172	59828220	371	7156											
SEMA6D	80031	broad.mit.edu	37	chr15	48058773	48058773	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacttgtgttcctatgaaGgctgttaaccgaagacttct	9	14	9	9	1	2	2	1	1	1	1	3	3	3	2	2	1	1	3	2	1	4	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:48058773G>T	ENST00000316364.5	+	16	2085				SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000537942.1_Splice_Site|SEMA6D_ENST00000389433.2_Intron|SEMA6D_ENST00000358066.4_Splice_Site|SEMA6D_ENST00000558014.1_Splice_Site|SEMA6D_ENST00000536845.2_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000389432.2_Splice_Site|SEMA6D_ENST00000354744.4_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCCTATGAAGGCTGTTAACC	0.408																																					.													.	SEMA6D	322		0			c.1647-1G>T												163	135	144					15																	48058773		2198	4297	6495	SO:0001627	intron_variant	80031	exon19			TATGAAGGCTGTT	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1647-40G>T	15.37:g.48058773G>T			150	0	0		102	0.04	4	NM_001198999	0		0	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Splice_Site	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897730	0.33535	.	.	ENSG00000137872	ENST00000537942;ENST00000389432;ENST00000358066	.	.	.	5.6	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5628	0.33520	0.0:0.137:0.646:0.217	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA6D	45846065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.513000	0.45494	2.631000	0.89168	0.655000	0.94253	.			0.408	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416868.1		NM_024966		T	48058773	G	T	48058773	1	4	96	0	1	0	0	0	0	0	0	0	14065	1014	35	3		3	SEMA6D	15	48058773	Intron	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5355601	48058773	54472619	372	7157											
DMXL2	23312	mdanderson.org	37	chr15	51791559	51791559	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcctcttctgcattagAactatcagcttcagtgtctc	7	15	7	12	0	5	1	2	0	3	1	6	1	5	1	1	0	5	3	1	0	3	4	rs12102203	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:51791559A>T	ENST00000251076.5	-	18	4149	c.3862T>A	c.(3862-3864)Tct>Act	p.S1288T	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1288T|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1288			S -> P (in dbSNP:rs12102203). {ECO:0000269|PubMed:10048485, ECO:0000269|PubMed:15489334}.			cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.S1288P(1)		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)		TCTGCATTAGAACTATCAGCT	0.398																																					p.S1288T													DMXL2,NS,carcinoma,0,1	DMXL2	0	1	1	Substitution - Missense(1)	stomach(1)	c.T3862A												166	164	165					15																	51791559		2194	4293	6487	SO:0001583	missense	23312	exon18			CATTAGAACTATC	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.3862T>A	15.37:g.51791559A>T	ENSP00000251076:p.Ser1288Thr		118	0	0		84	0.04	3	NM_001174116	0		0	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.294358	0.01375	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.21191	2.02;2.02	5.66	1.7	0.24286	.	0.673581	0.16046	N	0.232187	T	0.14013	0.0339	L	0.31664	0.95	0.54753	P	1.399999999995849E-5	B;B	0.12630	0.006;0.004	B;B	0.17433	0.018;0.007	T	0.23154	-1.0196	9	0.22706	T	0.39	.	9.3262	0.37995	0.5114:0.0:0.4885:0.0	.	1288;1288	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	T	1288	ENSP00000251076:S1288T;ENSP00000441858:S1288T	ENSP00000251076:S1288T	S	-	1	0	DMXL2	49578851	0.605000	0.26941	0.679000	0.29978	0.067000	0.16453	0.251000	0.18257	0.088000	0.17205	-0.186000	0.12905	TCT			0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000254671.2		NM_015263		T	51791559	A	T	51791559	3	4	96	1	0	0	0	0	1	0	0	0	4600	246	9	5	5355	5	DMXL2	15	51791559	Missense_Mutation	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	3732786	51791559	50739833	373	7158											
ZNF280D	54816	broad.mit.edu	37	chr15	56981569	56981569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaatacagctgaggaatttGctccagaaacactttcgctg	12	11	9	9	1	0	2	0	1	0	1	2	3	1	3	1	1	4	4	1	1	4	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:56981569G>T	ENST00000267807.7	-	8	815	c.599C>A	c.(598-600)gCa>gAa	p.A200E	ZNF280D_ENST00000559000.1_Missense_Mutation_p.A187E|ZNF280D_ENST00000559237.1_Missense_Mutation_p.A187E|ZNF280D_ENST00000396245.1_5'UTR	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGAGGAATTTGCTCCAGAAAC	0.363																																					p.A200E													.	ZNF280D	82		0			c.C599A												86	89	88					15																	56981569		2192	4292	6484	SO:0001583	missense	54816	exon8			GAATTTGCTCCAG	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.599C>A	15.37:g.56981569G>T	ENSP00000267807:p.Ala200Glu		211	0.0047393365	1		193	0.03	5	NM_017661	1	0	0	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.106755	0.01813	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435	T	0.24151	1.87	4.87	0.419	0.16438	.	6.082410	0.00397	N	0.000057	T	0.10294	0.0252	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.24317	0.101;0.042	B;B	0.33620	0.167;0.068	T	0.39057	-0.9632	10	0.02654	T	1	0.4354	5.6497	0.17610	0.2428:0.2426:0.5145:0.0	.	263;200	B4DHL1;Q6N043	.;Z280D_HUMAN	E	200;187;36	ENSP00000267807:A200E	ENSP00000260435:A36E	A	-	2	0	ZNF280D	54768861	0.352000	0.24895	0.016000	0.15963	0.001000	0.01503	0.601000	0.24119	0.176000	0.19873	-0.157000	0.13467	GCA			0.363	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000418891.2		XM_370867		T	56981569	G	T	56981569	3	4	96	1	0	0	0	0	1	0	0	0	17840	1319	46	2	2400	2	ZNF280D	15	56981569	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5190010	56981569	45549823	374	7159											
VPS13C	54832	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	62212292	62212292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtgaagaaggagcttTcttgacggctcaatatagat	13	11	11	6	1	3	5	2	2	1	3	3	6	3	6	0	2	1	2	0	2	5	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:62212292T>C	ENST00000261517.5	-	57	7524	c.7451A>G	c.(7450-7452)gAa>gGa	p.E2484G	VPS13C_ENST00000249837.3_Missense_Mutation_p.E2441G|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2484G|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2441G	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						GAAGGAGCTTTCTTGACGGCT	0.398																																					p.E2484G													.	.			0			c.A7451G												102	100	101					15																	62212292		2203	4299	6502	SO:0001583	missense	54832	exon57			GAGCTTTCTTGAC	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.7451A>G	15.37:g.62212292T>C	ENSP00000261517:p.Glu2484Gly		178	0	0		157	0.1	15	NM_020821	1	1	1		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246772	0.80024	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.47869	0.83;0.83;1.0	5.56	5.56	0.83823	.	0.103879	0.64402	D	0.000005	T	0.62024	0.2394	M	0.75447	2.3	0.80722	D	1	P;P;P;D	0.54772	0.868;0.726;0.868;0.968	P;B;P;P	0.54590	0.669;0.3;0.572;0.756	T	0.62435	-0.6855	10	0.34782	T	0.22	.	15.7083	0.77602	0.0:0.0:0.0:1.0	.	2441;2484;2441;2484	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	G	2441;2484;2484;2484	ENSP00000249837:E2441G;ENSP00000261517:E2484G;ENSP00000379233:E2484G	ENSP00000249837:E2441G	E	-	2	0	VPS13C	59999584	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	7.661000	0.83786	2.106000	0.64143	0.528000	0.53228	GAA			0.398	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000415997.1		NM_017684		C	62212292	T	C	62212292	3	2	96	1	0	0	0	0	1	0	0	0	17215	1783	62	4	3954	4	VPS13C	15	62212292	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	5230723	62212292	40319100	375	7160											
ZNF609	23060	broad.mit.edu	37	chr15	64791875	64791875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtcctcaagggaaggaagGcaaatcaaaatccaaaagga	19	4	11	7	0	2	0	2	0	0	0	4	3	4	3	2	5	0	1	2	5	8	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:64791875G>T	ENST00000326648.3	+	1	385	c.257G>T	c.(256-258)gGc>gTc	p.G86V	ZNF609_ENST00000416172.1_Missense_Mutation_p.G86V	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	86						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						GGGAAGGAAGGCAAATCAAAA	0.527																																					p.G86V													.	ZNF609	106		0			c.G257T												103	95	98					15																	64791875		2203	4300	6503	SO:0001583	missense	23060	exon1			AGGAAGGCAAATC	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.257G>T	15.37:g.64791875G>T	ENSP00000316527:p.Gly86Val		239	0	0		223	0.01	3	NM_015042	1	0	0	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	17.26	3.343697	0.61073	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	T	0.41400	1.0	5.5	5.5	0.81552	.	0.051845	0.85682	D	0.000000	T	0.49695	0.1572	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.72075	0.976;0.858	T	0.43130	-0.9410	10	0.39692	T	0.17	-7.7749	15.269	0.73683	0.0:0.1398:0.8602:0.0	.	86;86	E7ERY8;O15014	.;ZN609_HUMAN	V	86	ENSP00000316527:G86V	ENSP00000316527:G86V	G	+	2	0	ZNF609	62578928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.817000	0.86213	2.747000	0.94245	0.651000	0.88453	GGC			0.527	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418130.1		XM_042833		T	64791875	G	T	64791875	3	4	96	1	0	0	0	0	1	0	0	0	18058	1203	42	2	259	2	ZNF609	15	64791875	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2579583	64791875	37739517	376	7161											
KBTBD13	390594	broad.mit.edu	37	chr15	65370090	65370090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcttcgtgtgcctgtggCggccggccgacaccaccgcc	3	8	13	17	5	1	0	0	0	1	0	3	1	1	0	6	3	1	0	6	3	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:65370090C>T	ENST00000432196.2	+	1	937	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	313					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.R313W(1)		lung(1)|prostate(1)|skin(1)	3						GTGCCTGTGGCGGCCGGCCGA	0.736																																					p.R313W													KBTBD13,NS,carcinoma,0,1	KBTBD13	9	1	1	Substitution - Missense(1)	prostate(1)	c.C937T												3	5	4					15																	65370090		1386	3234	4620	SO:0001583	missense	390594	exon1			CTGTGGCGGCCGG		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.937C>T	15.37:g.65370090C>T	ENSP00000388723:p.Arg313Trp		32	0	0		25	0.08	2	NM_001101362	0		0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215400	0.58452	.	.	ENSG00000234438	ENST00000432196	T	0.66995	-0.24	5.15	0.634	0.17718	Kelch-type beta propeller (1);	.	.	.	.	T	0.54791	0.1880	L	0.29908	0.895	0.40823	D	0.983526	D	0.58620	0.983	B	0.43018	0.405	T	0.56481	-0.7972	9	0.39692	T	0.17	.	15.1395	0.72599	0.672:0.328:0.0:0.0	.	313	C9JR72	KBTBD_HUMAN	W	313	ENSP00000388723:R313W	ENSP00000388723:R313W	R	+	1	2	KBTBD13	63157143	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	1.689000	0.37700	0.136000	0.18733	0.561000	0.74099	CGG			0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418468.2		NM_001101362		T	65370090	C	T	65370090	3	4	96	1	0	0	0	0	1	0	0	0	8007	759	27	1	939	1	KBTBD13	15	65370090	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	578215	65370090	37161302	377	7162											
IDH3A	3419	mdanderson.org	37	chr15	78453923	78453923	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttttcttctgtataacagGccctttgaagaccccaatag	10	13	8	10	0	2	2	0	1	2	1	2	2	2	2	3	2	1	2	3	2	5	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:78453923G>T	ENST00000299518.2	+	5	373	c.290G>T	c.(289-291)gGc>gTc	p.G97V	IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000441490.2_5'UTR|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	97					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						TGTATAACAGGCCCTTTGAAG	0.473																																					p.G97V													.	.			0			c.G290T												94	86	89					15																	78453923		2196	4293	6489	SO:0001630	splice_region_variant	3419	exon5			TAACAGGCCCTTT		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.290-1G>T	15.37:g.78453923G>T			46	0	0		43	0.09	4	NM_005530	34	0	0	D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679100	0.96764	.	.	ENSG00000166411	ENST00000299518	T	0.78595	-1.19	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.92734	0.7690	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94299	0.7535	9	.	.	.	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	97	P50213	IDH3A_HUMAN	V	97	ENSP00000299518:G97V	.	G	+	2	0	IDH3A	76240978	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.594000	0.98254	2.857000	0.98124	0.650000	0.86243	GGC			0.473	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000289799.4		NM_005530	Missense_Mutation	T	78453923	G	T	78453923	5	4	96	1	0	0	0	0	0	0	1	0	7511	1217	42	2	308	2	IDH3A	15	78453923	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	13083833	78453923	24077469	378	7163											
RASGRF1	5923	broad.mit.edu	37	chr15	79382723	79382723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcgaaccacttggtttGccattttgtgttgtccgaac	7	13	10	11	3	0	0	0	0	0	0	1	2	1	0	3	1	4	2	3	1	2	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:79382723G>T	ENST00000419573.3	-	1	392	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q40K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	40	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CACTTGGTTTGCCATTTTGTG	0.622																																					p.Q40K													.	RASGRF1	168		0			c.C118A												179	136	150					15																	79382723		2196	4293	6489	SO:0001583	missense	5923	exon1			TGGTTTGCCATTT	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.118C>A	15.37:g.79382723G>T	ENSP00000405963:p.Gln40Lys		48	0.0208333333	1		42	0.1	4	NM_001145648	0		0	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.220206	0.58560	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.09163	3.01	4.03	4.03	0.46877	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.079193	0.51477	D	0.000093	T	0.09686	0.0238	L	0.37897	1.145	0.80722	D	1	B;B;B	0.13594	0.008;0.008;0.002	B;B;B	0.17979	0.009;0.02;0.009	T	0.15321	-1.0441	10	0.21540	T	0.41	.	13.7315	0.62789	0.0:0.0:1.0:0.0	.	40;40;40	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	K	40	ENSP00000405963:Q40K	ENSP00000378224:Q40K	Q	-	1	0	RASGRF1	77169778	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.624000	0.90961	2.091000	0.63221	0.313000	0.20887	CAA			0.622	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000291371.3		NM_002891		T	79382723	G	T	79382723	3	4	96	1	0	0	0	0	1	0	0	0	13095	1328	46	2	3815	2	RASGRF1	15	79382723	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	928800	79382723	23148669	379	7164											
AKAP13	11214	broad.mit.edu	37	chr15	86266551	86266551	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcagcaggaaggttgaaaGgtaaggcttggctcttttgt	10	12	14	5	0	1	1	0	1	1	0	1	2	1	2	0	5	2	6	0	5	3	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr15:86266551G>T	ENST00000394518.2	+	26	6840	c.6745G>T	c.(6745-6747)Gag>Tag	p.E2249*	AKAP13_ENST00000361243.2_Splice_Site_p.E2253*|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Splice_Site_p.E494*|RP11-158M2.2_ENST00000561417.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2249	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						AAGGTTGAAAGGTAAGGCTTG	0.423																																					p.E2253X	Melanoma(94;603 1453 3280 32295 32951)												.	AKAP13	394		0			c.G6757T												124	105	111					15																	86266551		2202	4299	6501	SO:0001630	splice_region_variant	11214	exon26			TTGAAAGGTAAGG	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.6745+1G>T	15.37:g.86266551G>T			117	0.0170940171	2		106	0.04	4	NM_006738	2	0	0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Splice_Site	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	49	15.169475	0.99824	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	.	.	.	X	329;2253;2249;2252;2228;494	.	ENSP00000354718:E2253X	E	+	1	0	AKAP13	84067555	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.357000	0.97099	2.690000	0.91761	0.655000	0.94253	GAG			0.423	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000417318.1		NM_007200	Nonsense_Mutation	T	86266551	G	T	86266551	5	4	96	1	0	0	0	0	0	0	1	0	449	1014	35	3	6913	3	AKAP13	15	86266551	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6883828	86266551	16264841	380	7165											
CHTF18	63922	mdanderson.org	37	chr16	839620	839620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaatcccgtcctgaggcggCcccccatcttggaggactac	7	7	11	16	2	1	1	0	1	1	0	3	3	3	3	5	4	1	1	5	4	2	2	rs373908849	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:839620C>T	ENST00000262315.9	+	4	574	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	RPUSD1_ENST00000567114.1_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000317063.6_Missense_Mutation_p.P368S|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000455171.2_Missense_Mutation_p.P199S|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	171					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)				CCTGAGGCGGCCCCCCATCTT	0.677													C|||	2	0.000399361	0.0015	0	5008	,	,		16335	0		0	False		,,,				2504	0				p.P171S													.	.			0			c.C511T							C	SER/PRO	1,4125		0,1,2062	40	47	45		511	5.2	1	16		45	0,8372		0,0,4186	no	missense	CHTF18	NM_022092.2	74	0,1,6248	TT,TC,CC		0.0,0.0242,0.0080	probably-damaging	171/976	839620	1,12497	2063	4186	6249	SO:0001583	missense	63922	exon4			AGGCGGCCCCCCA	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.511C>T	16.37:g.839620C>T	ENSP00000262315:p.Pro171Ser		31	0	0		32	0.09	3	NM_022092	55	0	0	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.083095|4.083095	0.76642|0.76642	2.42E-4|2.42E-4	0.0|0.0	ENSG00000127586|ENSG00000127586	ENST00000426047|ENST00000317063;ENST00000455171;ENST00000262315	.|T;T;T	.|0.21191	.|2.02;2.39;2.28	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.057567	.|0.64402	.|D	.|0.000001	T|T	0.37073|0.37073	0.0990|0.0990	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;0.992	T|T	0.02901|0.02901	-1.1096|-1.1096	5|10	.|0.31617	.|T	.|0.26	-30.6424|-30.6424	17.4149|17.4149	0.87497|0.87497	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|171;199;171	.|B4DEY3;Q8WVB6-2;Q8WVB6	.|.;.;CTF18_HUMAN	V|S	41|368;199;171	.|ENSP00000313029:P368S;ENSP00000406252:P199S;ENSP00000262315:P171S	.|ENSP00000262315:P171S	A|P	+|+	2|1	0|0	CHTF18|CHTF18	779621|779621	0.908000|0.908000	0.30866|0.30866	0.970000|0.970000	0.41538|0.41538	0.174000|0.174000	0.22865|0.22865	2.981000|2.981000	0.49329|0.49329	2.452000|2.452000	0.82932|0.82932	0.543000|0.543000	0.68304|0.68304	GCC|CCC			0.677	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109061.3		NM_022092		T	839620	C	T	839620	3	4	96	1	0	0	0	0	1	0	0	0	3416	739	26	2	525	2	CHTF18	16	839620	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10		839620	89515133	381	7166											
UBE2I	7329	broad.mit.edu	37	chr16	1370230	1370230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacccttcggggacagtgtgCctgtccatcttagaggagga	8	10	13	10	1	1	1	0	0	1	1	3	4	2	4	3	4	2	0	3	4	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:1370230C>T	ENST00000355803.4	+	5	830	c.279C>T	c.(277-279)tgC>tgT	p.C93C	UBE2I_ENST00000402301.1_Silent_p.C93C|UBE2I_ENST00000325437.5_Silent_p.C93C|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Silent_p.C93C|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000406620.1_Silent_p.C93C|UBE2I_ENST00000397515.2_Silent_p.C93C|UBE2I_ENST00000403747.2_Silent_p.C93C|UBE2I_ENST00000566587.1_Silent_p.C93C	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	93					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GGACAGTGTGCCTGTCCATCT	0.552																																					p.C93C													.	UBE2I	15		0			c.C279T												80	72	75					16																	1370230		2199	4300	6499	SO:0001819	synonymous_variant	7329	exon5			AGTGTGCCTGTCC	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12485	protein-coding gene	gene with protein product		601661	"ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)", "ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.279C>T	16.37:g.1370230C>T			97	0	0		123	0.03	4	NM_003345	1001	0	1	D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	ENST00000355803.4	37	CCDS10433.1																																																																																					0.552	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250317.2		NM_003345		T	1370230	C	T	1370230	2	4	96	1	0	0	0	0	0	0	0	1	16883	747	26	2		2	UBE2I	16	1370230	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	530610	1370230	88984523	382	7167											
MAPK8IP3	23162	mdanderson.org	37	chr16	1816287	1816287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagaggaggccacagaggCcacggaggtgccagaccctg	11	2	15	13	1	0	3	0	0	0	3	0	5	0	5	4	5	1	0	4	5	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:1816287C>T	ENST00000250894.4	+	22	2850	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A892V	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	898					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCCACAGAGGCCACGGAGGTG	0.672																																					p.A898V													.	.			0			c.C2693T												33	45	41					16																	1816287		2109	4235	6344	SO:0001583	missense	23162	exon22			CAGAGGCCACGGA	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2693C>T	16.37:g.1816287C>T	ENSP00000250894:p.Ala898Val		57	0	0		57	0.05	3	NM_015133	11	0	0	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831311	0.91036	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.34275	1.37;1.37	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	L	0.52364	1.645	0.80722	D	1	P;P;D	0.69078	0.691;0.908;0.997	P;P;D	0.79784	0.465;0.727;0.993	T	0.47328	-0.9126	10	0.30854	T	0.27	-27.654	18.0927	0.89479	0.0:1.0:0.0:0.0	.	899;892;898	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	V	898;892	ENSP00000250894:A898V;ENSP00000348290:A892V	ENSP00000250894:A898V	A	+	2	0	MAPK8IP3	1756288	1.000000	0.71417	0.986000	0.45419	0.842000	0.47809	7.515000	0.81761	2.387000	0.81309	0.561000	0.74099	GCC			0.672	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250508.2		NM_001040439		T	1816287	C	T	1816287	3	4	96	1	0	0	0	0	1	0	0	0	9302	739	26	2	2795	2	MAPK8IP3	16	1816287	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	446057	1816287	88538466	383	7168											
BTBD12	84464	broad.mit.edu	37	chr16	3656574	3656574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgtgtctcaaacgctcggGgtctgctctcttgaactgct	6	12	11	12	3	3	1	1	1	3	0	6	1	3	1	0	2	5	3	0	2	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:3656574G>T	ENST00000294008.3	-	3	1301	c.661C>A	c.(661-663)Ccc>Acc	p.P221T		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	221	Interaction with SLX4IP, ERCC4 and MSH2.				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						AAACGCTCGGGGTCTGCTCTC	0.562								Direct reversal of damage																													p.P221T													.	SLX4	173		0			c.C661A												215	214	214					16																	3656574		2197	4300	6497	SO:0001583	missense	84464	exon3			GCTCGGGGTCTGC	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.661C>A	16.37:g.3656574G>T	ENSP00000294008:p.Pro221Thr		233	0	0		209	0.01	3	NM_032444	2	0	0	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281259	0.80692	.	.	ENSG00000188827	ENST00000294008	T	0.02472	4.28	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.13415	0.0325	L	0.58810	1.83	0.41058	D	0.985359	D	0.89917	1.0	D	0.91635	0.999	T	0.00188	-1.1940	10	0.87932	D	0	.	17.5813	0.87969	0.0:0.0:1.0:0.0	.	221	Q8IY92	SLX4_HUMAN	T	221	ENSP00000294008:P221T	ENSP00000294008:P221T	P	-	1	0	SLX4	3596575	1.000000	0.71417	0.970000	0.41538	0.801000	0.45260	4.576000	0.60915	2.577000	0.86979	0.655000	0.94253	CCC			0.562	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157301.3		NM_032444		T	3656574	G	T	3656574	3	4	96	1	0	0	0	0	1	0	0	0	1542	1232	43	3	4895	3	BTBD12	16	3656574	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1840287	3656574	86698179	384	7169											
CORO7	79585	mdanderson.org	37	chr16	4414863	4414863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagctcatgacggccagCgcctgccggggcacaagggc	7	4	15	15	4	1	1	1	1	0	0	2	1	1	1	3	4	3	3	3	4	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:4414863C>T	ENST00000251166.4	-	12	1102	c.957G>A	c.(955-957)gcG>gcA	p.A319A	CORO7-PAM16_ENST00000572467.1_Silent_p.A319A|CORO7_ENST00000423908.2_Silent_p.A151A|CORO7_ENST00000537233.2_Silent_p.A301A|CORO7_ENST00000574025.1_Silent_p.A234A|CORO7_ENST00000539968.1_Silent_p.A99A	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	319					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						TGACGGCCAGCGCCTGCCGGG	0.657																																					p.A319A													.	.			0			c.G957A												31	26	28					16																	4414863		2193	4288	6481	SO:0001819	synonymous_variant	79585	exon12			GGCCAGCGCCTGC	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.957G>A	16.37:g.4414863C>T			27	0	0		45	0.07	3	NM_024535	19	0	0	B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	CCDS10513.1																																																																																					0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251628.2		NM_024535		T	4414863	C	T	4414863	2	4	96	1	0	0	0	0	0	0	0	1	3761	755	27	1		1	CORO7	16	4414863	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	758289	4414863	85939890	385	7170											
CIITA	4261	mdanderson.org	37	chr16	10989249	10989249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accacttctatgaccagatgGacctggctggagaagaagag	13	7	12	9	0	1	5	0	1	1	4	1	7	1	6	3	3	0	1	3	3	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:10989249G>T	ENST00000324288.8	+	2	296	c.163G>T	c.(163-165)Gac>Tac	p.D55Y	CIITA_ENST00000381835.5_Missense_Mutation_p.D55Y|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	55	Asp/Glu-rich (acidic).				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGACCAGATGGACCTGGCTGG	0.587			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																p.D55Y				Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	.	.			0			c.G163T												94	87	89					16																	10989249		2197	4300	6497	SO:0001583	missense	4261	exon2			CAGATGGACCTGG	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.163G>T	16.37:g.10989249G>T	ENSP00000316328:p.Asp55Tyr		53	0	0		59	0.05	3	NM_000246	0		0	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599938	0.28534	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.75704	-0.96;1.4	4.07	3.0	0.34707	.	0.367348	0.19221	N	0.119664	T	0.79435	0.4445	L	0.48642	1.525	0.21579	N	0.99964	D;D;D;D;D;D	0.89917	1.0;0.99;0.999;0.999;1.0;1.0	D;P;D;D;D;D	0.97110	1.0;0.737;0.962;0.962;0.986;0.999	T	0.66496	-0.5909	10	0.72032	D	0.01	.	8.9554	0.35814	0.0:0.228:0.772:0.0	.	55;55;55;55;55;55	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	Y	55	ENSP00000316328:D55Y;ENSP00000371257:D55Y	ENSP00000316328:D55Y	D	+	1	0	CIITA	10896750	0.989000	0.36119	0.871000	0.34182	0.011000	0.07611	1.791000	0.38744	2.219000	0.72066	0.561000	0.74099	GAC			0.587	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251966.2		NM_000246		T	10989249	G	T	10989249	3	4	96	1	0	0	0	0	1	0	0	0	3430	1174	41	3	169	3	CIITA	16	10989249	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6574386	10989249	79365504	386	7171											
ACSM2A	123876	broad.mit.edu	37	chr16	20477039	20477039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctggtgatcctgggctgCattcgagcaggttggtaact	6	12	15	8	1	0	1	0	1	0	0	2	2	1	1	1	5	3	6	1	5	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:20477039C>T	ENST00000573854.1	+	3	492	c.378C>T	c.(376-378)tgC>tgT	p.C126C	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.C126C|ACSM2A_ENST00000219054.6_Silent_p.C126C|ACSM2A_ENST00000575690.1_Silent_p.C126C|ACSM2A_ENST00000396104.2_Silent_p.C126C|ACSM2A_ENST00000417235.2_Silent_p.C47C|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	126					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						TCCTGGGCTGCATTCGAGCAG	0.567																																					p.C126C													.	ACSM2A	120		0			c.C378T												76	65	69					16																	20477039		2203	4297	6500	SO:0001819	synonymous_variant	123876	exon4			GGGCTGCATTCGA	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.378C>T	16.37:g.20477039C>T			330	0.0090909091	3		290	0.01	4	NM_001010845	0		0	B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	CCDS32401.1																																																																																					0.567	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436764.1		NM_001010845		T	20477039	C	T	20477039	2	4	96	1	0	0	0	0	0	0	0	1	183	718	25	2		2	ACSM2A	16	20477039	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	9487790	20477039	69877714	387	7172											
CRYM	1428	broad.mit.edu	37	chr16	21272608	21272608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggtggtcttctcacagtGggctggtttcactcccttaa	6	13	10	12	1	3	0	2	0	2	0	5	0	4	0	1	4	0	2	1	4	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:21272608G>T	ENST00000219599.3	-	9	1112	c.847C>A	c.(847-849)Cac>Aac	p.H283N	CRYM_ENST00000396023.2_Missense_Mutation_p.H283N|CRYM_ENST00000415987.2_Missense_Mutation_p.H241N|CRYM_ENST00000543948.1_Missense_Mutation_p.H283N	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	283					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)		TTCTCACAGTGGGCTGGTTTC	0.507																																					p.H283N													.	CRYM	13		0			c.C847A												161	130	141					16																	21272608		2199	4300	6499	SO:0001583	missense	1428	exon9			CACAGTGGGCTGG		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.847C>A	16.37:g.21272608G>T	ENSP00000219599:p.His283Asn		132	0	0		138	0.03	4	NM_001888	190	0.01	1	D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930217	0.52866	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.49	1.31	0.21738	NAD(P)-binding domain (1);	0.689601	0.15312	N	0.269013	T	0.59729	0.2215	L	0.28274	0.84	0.31648	N	0.647159	B	0.12013	0.005	B	0.20384	0.029	T	0.58853	-0.7563	10	0.56958	D	0.05	-15.8893	8.4958	0.33127	0.3114:0.0:0.6886:0.0	.	283	Q14894	CRYM_HUMAN	N	283;283;283;241	ENSP00000440227:H283N;ENSP00000219599:H283N;ENSP00000379341:H283N;ENSP00000390928:H241N	ENSP00000219599:H283N	H	-	1	0	CRYM	21180109	0.013000	0.17824	0.983000	0.44433	0.998000	0.95712	0.161000	0.16481	0.295000	0.22570	0.655000	0.94253	CAC			0.507	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207398.1				T	21272608	G	T	21272608	3	4	96	1	0	0	0	0	1	0	0	0	3923	1348	47	3	105	3	CRYM	16	21272608	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	795569	21272608	69082145	388	7173											
PALB2	79728	broad.mit.edu	37	chr16	23641321	23641321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacacatgtctgtggtaggCctgtcattatcatcaggcgc	9	11	11	10	1	4	0	3	0	1	0	4	1	4	0	1	3	1	1	1	3	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:23641321C>A	ENST00000261584.4	-	5	2306	c.2154G>T	c.(2152-2154)agG>agT	p.R718S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	718					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)		CTGTGGTAGGCCTGTCATTAT	0.458			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																													p.R718S			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	.	PALB2	108		0			c.G2154T												126	124	125					16																	23641321		2197	4300	6497	SO:0001583	missense	79728	exon5			GGTAGGCCTGTCA		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.2154G>T	16.37:g.23641321C>A	ENSP00000261584:p.Arg718Ser		125	0.032	4		129	0.04	5	NM_024675	8	0	0	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564582	0.27915	.	.	ENSG00000083093	ENST00000261584	T	0.15952	2.38	5.7	-11.4	0.00090	.	1.567540	0.03403	N	0.203662	T	0.11879	0.0289	L	0.51422	1.61	0.09310	N	1	B	0.21225	0.053	B	0.18561	0.022	T	0.10941	-1.0608	10	0.36615	T	0.2	0.2841	4.7032	0.12837	0.2606:0.4566:0.0881:0.1947	.	718	Q86YC2	PALB2_HUMAN	S	718	ENSP00000261584:R718S	ENSP00000261584:R718S	R	-	3	2	PALB2	23548822	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.066000	0.00621	-2.246000	0.00704	-0.290000	0.09829	AGG			0.458	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435287.2		NM_024675		A	23641321	C	A	23641321	3	1	96	1	0	0	0	0	1	0	0	0	11423	738	26	2	1442	2	PALB2	16	23641321	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	2368713	23641321	66713432	389	7174											
SULT1A2	6799	broad.mit.edu	37	chr16	28604855	28604855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtggtagtaggaaaccGccacatcctttgcgttgcgg	10	9	13	9	3	0	1	0	0	0	1	1	2	1	2	3	3	3	3	3	3	4	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:28604855G>T	ENST00000395630.1	-	5	757	c.407C>A	c.(406-408)gCg>gAg	p.A136E	SULT1A2_ENST00000335715.4_Missense_Mutation_p.A136E|SULT1A2_ENST00000533150.1_Intron	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	136					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GTAGGAAACCGCCACATCCTT	0.577																																					p.A136E													.	SULT1A2	27		0			c.C407A												133	124	127					16																	28604855		2197	4300	6497	SO:0001583	missense	6799	exon5			GAAACCGCCACAT	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"Sulfotransferases, cytosolic"	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.407C>A	16.37:g.28604855G>T	ENSP00000378992:p.Ala136Glu		161	0	0		162	0.02	4	NM_001054	3	0	0	A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	ENST00000395630.1	37	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	g	11.94	1.787414	0.31593	.	.	ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384	D;D;D	0.84944	-1.92;-1.92;-1.92	4.6	1.45	0.22620	Sulfotransferase domain (1);	0.157106	0.43260	D	0.000590	D	0.93288	0.7861	H	0.97611	4.04	0.28021	N	0.934509	D	0.67145	0.996	D	0.64776	0.929	D	0.86687	0.1920	10	0.59425	D	0.04	.	8.2271	0.31575	0.2885:0.0:0.7115:0.0	.	136	P50226	ST1A2_HUMAN	E	136	ENSP00000338742:A136E;ENSP00000378992:A136E;ENSP00000435358:A136E	ENSP00000338742:A136E	A	-	2	0	SULT1A2	28512356	0.974000	0.33945	0.920000	0.36463	0.023000	0.10783	1.700000	0.37815	0.363000	0.24346	-0.222000	0.12452	GCG			0.577	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109415.2		NM_001054		T	28604855	G	T	28604855	3	4	96	1	0	0	0	0	1	0	0	0	15396	1087	38	1	496	1	SULT1A2	16	28604855	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4963534	28604855	61749898	390	7175											
ASPHD1	253982	mdanderson.org	37	chr16	29913203	29913203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggcccggctcgagggccGctgtgggcccaccaatgccc	4	5	16	16	3	0	0	0	0	0	0	1	1	0	0	5	5	1	2	5	5	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:29913203G>A	ENST00000308748.5	+	1	1163	c.911G>A	c.(910-912)cGc>cAc	p.R304H	ASPHD1_ENST00000483405.1_Missense_Mutation_p.R23H|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	304					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTCGAGGGCCGCTGTGGGCCC	0.622																																					p.R304H													.	.			0			c.G911A												16	17	16					16																	29913203		2047	4057	6104	SO:0001583	missense	253982	exon1			AGGGCCGCTGTGG	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.911G>A	16.37:g.29913203G>A	ENSP00000311447:p.Arg304His		58	0	0		49	0.06	3	NM_181718	42	0.02	1	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	5.233	0.228446	0.09916	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.09723	2.95;2.95	5.83	5.83	0.93111	.	0.161867	0.44097	D	0.000500	T	0.01029	0.0034	N	0.00008	-3.1	0.33270	D	0.560853	B	0.31817	0.341	B	0.17433	0.018	T	0.32079	-0.9920	10	0.02654	T	1	-11.2636	8.5523	0.33460	0.0797:0.155:0.7653:0.0	.	304	Q5U4P2	ASPH1_HUMAN	H	304	ENSP00000388036:R304H;ENSP00000311447:R304H	ENSP00000311447:R304H	R	+	2	0	ASPHD1	29820704	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	1.703000	0.37846	2.763000	0.94921	0.563000	0.77884	CGC			0.622	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255163.2		NM_181718		A	29913203	G	A	29913203	3	1	96	1	0	0	0	0	1	0	0	0	1054	1087	38	1	913	1	ASPHD1	16	29913203	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1308348	29913203	60441550	391	7176											
PRSS53	339105	broad.mit.edu	37	chr16	31097418	31097418	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcacaggagcgtcctcctgGgcacagcttgatgcaaagct	10	7	12	12	1	0	1	0	1	0	0	2	2	2	2	2	2	5	5	2	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:31097418G>T	ENST00000280606.6	-	6	903	c.750C>A	c.(748-750)gcC>gcA	p.A250A		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	250	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CGTCCTCCTGGGCACAGCTTG	0.627																																					p.A250A													.	PRSS53	29		0			c.C750A												72	76	75					16																	31097418		2088	4227	6315	SO:0001819	synonymous_variant	339105	exon6			CTCCTGGGCACAG		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.750C>A	16.37:g.31097418G>T			54	0	0		69	0.06	4	NM_001039503	4	0	0		Silent	SNP	ENST00000280606.6	37	CCDS42153.1																																																																																					0.627	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000108580.4		NM_001081268		T	31097418	G	T	31097418	2	4	96	1	0	0	0	0	0	0	0	1	12652	1219	43	3		3	PRSS53	16	31097418	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1184215	31097418	59257335	392	7177											
PRSS36	146547	broad.mit.edu	37	chr16	31154780	31154780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaggcccctggccgcgggGccttcccgcactctgagggg	3	5	16	17	3	1	1	0	1	1	0	2	1	2	1	6	6	0	1	6	6	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:31154780G>T	ENST00000268281.4	-	8	1041	c.983C>A	c.(982-984)gCc>gAc	p.A328D	PRSS36_ENST00000569305.1_Missense_Mutation_p.A328D|PRSS36_ENST00000418068.2_Missense_Mutation_p.A328D	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	328	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGCCGCGGGGCCTTCCCGCA	0.667																																					p.A328D													.	PRSS36	50		0			c.C983A												27	33	31					16																	31154780		2197	4300	6497	SO:0001583	missense	146547	exon8			CGCGGGGCCTTCC	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.983C>A	16.37:g.31154780G>T	ENSP00000268281:p.Ala328Asp		48	0.0208333333	1		68	0.07	5	NM_001258291	1	0	0	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	8.398	0.841279	0.16891	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88509	-2.39;-2.39	4.11	3.12	0.35913	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.85318	0.5669	N	0.13327	0.33	0.09310	N	0.999997	D;D;D	0.71674	0.986;0.998;0.998	P;D;D	0.69824	0.823;0.966;0.966	T	0.73145	-0.4075	9	0.02654	T	1	.	9.4339	0.38626	0.0:0.2171:0.7829:0.0	.	328;328;328	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	D	328	ENSP00000268281:A328D;ENSP00000407160:A328D	ENSP00000268281:A328D	A	-	2	0	PRSS36	31062281	0.181000	0.23161	0.573000	0.28510	0.893000	0.52053	1.534000	0.36051	0.901000	0.36495	0.491000	0.48974	GCC			0.667	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000433542.1		NM_173502		T	31154780	G	T	31154780	3	4	96	1	0	0	0	0	1	0	0	0	12645	1203	42	2	1616	2	PRSS36	16	31154780	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	57362	31154780	59199973	393	7178											
ABCC11	85320	broad.mit.edu	37	chr16	48244964	48244964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcatcccctcagaagcatgCccgttcctctccagctccag	7	9	7	18	1	3	1	2	0	1	1	7	1	6	1	6	0	3	3	6	0	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:48244964C>T	ENST00000394747.1	-	10	1852	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	ABCC11_ENST00000356608.2_Silent_p.G501G|ABCC11_ENST00000353782.5_Silent_p.G501G|ABCC11_ENST00000537808.1_Silent_p.G501G|ABCC11_ENST00000394748.1_Silent_p.G501G	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	501					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|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)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CAGAAGCATGCCCGTTCCTCT	0.592																																					p.G501G													.	ABCC11	177		0			c.G1503A												113	97	102					16																	48244964		2201	4300	6501	SO:0001819	synonymous_variant	85320	exon10			AGCATGCCCGTTC	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1503G>A	16.37:g.48244964C>T			125	0.008	1		133	0.02	3	NM_033151	0		0	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																					0.592	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000429984.1		NM_032583		T	48244964	C	T	48244964	2	4	96	1	0	0	0	0	0	0	0	1	51	726	26	2		2	ABCC11	16	48244964	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	17090184	48244964	42109789	394	7179											
CHD9	80205	broad.mit.edu	37	chr16	53243477	53243477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtcatgtctgagaagaaGcagagaaaaaaggtggaatc	17	6	14	4	0	2	3	1	1	1	3	3	6	2	4	0	3	1	1	0	3	6	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:53243477G>T	ENST00000398510.3	+	2	1623	c.1536G>T	c.(1534-1536)aaG>aaT	p.K512N	CHD9_ENST00000566029.1_Missense_Mutation_p.K512N|CHD9_ENST00000447540.1_Missense_Mutation_p.K512N|CHD9_ENST00000564845.1_Missense_Mutation_p.K512N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	512					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)				CTGAGAAGAAGCAGAGAAAAA	0.428																																					p.K512N													.	CHD9	203		0			c.G1536T												81	76	77					16																	53243477		1866	4096	5962	SO:0001583	missense	80205	exon3			GAAGAAGCAGAGA	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.1536G>T	16.37:g.53243477G>T	ENSP00000381522:p.Lys512Asn		218	0	0		203	0.01	3	NM_025134	0		0	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	G	12.99	2.103322	0.37145	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.55588	0.51;0.51	5.67	4.71	0.59529	.	0.000000	0.64402	D	0.000011	T	0.57315	0.2045	L	0.51422	1.61	0.40823	D	0.983529	B;P;B;D;P	0.67145	0.18;0.843;0.421;0.996;0.557	B;B;B;P;B	0.62184	0.035;0.291;0.107;0.899;0.215	T	0.53429	-0.8440	10	0.23302	T	0.38	-15.8678	7.148	0.25593	0.1403:0.1482:0.7115:0.0	.	38;512;512;512;512	B4DR07;Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;.;CHD9_HUMAN;.;.	N	512;512;38	ENSP00000396345:K512N;ENSP00000381522:K512N	ENSP00000219084:K38N	K	+	3	2	CHD9	51800978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.979000	0.29500	2.670000	0.90874	0.655000	0.94253	AAG			0.428	CHD9-020	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000422345.1		NM_025134		T	53243477	G	T	53243477	3	4	96	1	0	0	0	0	1	0	0	0	3334	962	34	2	1542	2	CHD9	16	53243477	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4998513	53243477	37111276	395	7180											
CDH5	1003	broad.mit.edu	37	chr16	66431946	66431947	+	Frame_Shift_Ins	INS	-	-	A																															aagttttggatgagaatgacINSaatgccccggagtttgccaa																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:66431946_66431947insA	ENST00000341529.3	+	9	1570_1571	c.1422_1423insA	c.(1423-1425)aatfs	p.N475fs	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	475	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATGAGAATGACAATGCCCCGGA	0.545																																					p.D474fs													CDH5,NS,carcinoma,+1,1	CDH5	111	1	0			c.1422_1423insA																																									SO:0001589	frameshift_variant	1003	exon9			GAATGACAATGCC	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1424dupA	16.37:g.66431948_66431948dupA	ENSP00000344115:p.Asn475fs		143	0	0		210	0	0	NM_001795	10	0	0	Q4VAI5|Q4VAI6	Frame_Shift_Ins	INS	ENST00000341529.3	37	CCDS10804.1																																																																																					0.545	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268767.1		NM_001795		A	66431947	-	A	66431946	7	5	96	1	0	1	1	0	0	0	0	0	3115	477	17	0	1452	0	CDH5	16	66431946	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	13188469	66431946	23922807	396	7181											
ELMO3	79767	broad.mit.edu	37	chr16	67236569	67236569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagctggcccgcactctgGccctgaagcccacttccctg	6	7	10	18	1	1	1	0	1	1	0	2	1	2	1	4	2	3	3	4	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:67236569G>T	ENST00000360833.1	+	14	1603	c.1546G>T	c.(1546-1548)Gcc>Tcc	p.A516S	ELMO3_ENST00000477898.1_Missense_Mutation_p.A367S|ELMO3_ENST00000393997.2_Missense_Mutation_p.A533S|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	480					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)		CCGCACTCTGGCCCTGAAGCC	0.652																																					p.A533S													.	ELMO3	41		0			c.G1597T												41	50	47					16																	67236569		2101	4205	6306	SO:0001583	missense	79767	exon15			ACTCTGGCCCTGA		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.1546G>T	16.37:g.67236569G>T	ENSP00000354077:p.Ala516Ser		164	0	0		172	0.02	3	NM_024712	29	0	0	B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	37		.	.	.	.	.	.	.	.	.	.	G	10.84	1.462981	0.26248	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.14640	2.5;2.49	5.82	5.82	0.92795	.	0.153445	0.56097	D	0.000021	T	0.10508	0.0257	N	0.25286	0.73	0.48696	D	0.999694	P;P;P	0.38223	0.489;0.623;0.623	B;B;B	0.37508	0.077;0.252;0.252	T	0.28299	-1.0048	10	0.20519	T	0.43	-17.8836	14.4239	0.67202	0.0:0.0:0.852:0.148	.	480;516;533	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	S	516;533	ENSP00000354077:A516S;ENSP00000377566:A533S	ENSP00000354077:A516S	A	+	1	0	ELMO3	65794070	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.047000	0.41269	2.757000	0.94681	0.655000	0.94253	GCC			0.652	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000257667.2		NM_024712		T	67236569	G	T	67236569	3	4	96	1	0	0	0	0	1	0	0	0	5074	1203	42	2	1655	2	ELMO3	16	67236569	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	804623	67236569	23118184	397	7182											
RLTPR	146206	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	67683478	67683478	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgccatgggggacgcgggCgccaagttgctggccaaggc	8	4	17	12	4	0	0	0	0	0	0	0	1	0	1	3	5	2	2	3	5	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:67683478C>A	ENST00000334583.6	+	20	2203	c.1875C>A	c.(1873-1875)ggC>ggA	p.G625G	RLTPR_ENST00000545661.1_Silent_p.G589G	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	625	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGGACGCGGGCGCCAAGTTGC	0.706																																					p.G625G													.	.			0			c.C1875A												18	21	20					16																	67683478		1961	4122	6083	SO:0001819	synonymous_variant	146206	exon20			CGCGGGCGCCAAG	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1875C>A	16.37:g.67683478C>A			18	0	0		19	0.47	9	NM_001013838	11	0.27	3	B8X2Z3	Silent	SNP	ENST00000334583.6	37	CCDS45513.1																																																																																					0.706	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000467858.1		NM_001013838		A	67683478	C	A	67683478	2	1	96	1	0	0	0	0	0	0	0	1	13417	755	27	1		1	RLTPR	16	67683478	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	446909	67683478	22671275	398	7183											
EDC4	23644	mdanderson.org	37	chr16	67913787	67913787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcggtaGcagcagcagcagcagcagta	13	2	14	12	1	0	0	0	0	0	0	0	0	0	0	0	1	11	12	0	1	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:67913787G>T	ENST00000358933.5	+	16	2095	c.1856G>T	c.(1855-1857)aGc>aTc	p.S619I	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	619	Ser-rich.				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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		agcagcggtagcagcagcagc	0.612																																					p.S619I													.	.			0			c.G1856T												38	35	36					16																	67913787		2187	4253	6440	SO:0001583	missense	23644	exon16			GCGGTAGCAGCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1856G>T	16.37:g.67913787G>T	ENSP00000351811:p.Ser619Ile		56	0	0		59	0.08	5	NM_014329	38	0	0	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623519	0.28889	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.12	3.15	0.36227	.	0.339171	0.32533	N	0.005969	T	0.17109	0.0411	N	0.14661	0.345	0.23361	N	0.997839	B;P	0.35575	0.012;0.51	B;B	0.26202	0.012;0.067	T	0.11179	-1.0598	9	0.48119	T	0.1	0.017	7.6658	0.28430	0.1906:0.0:0.8094:0.0	.	551;619	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	I	619;551	.	ENSP00000351811:S619I	S	+	2	0	EDC4	66471288	.	.	0.959000	0.39883	0.936000	0.57629	.	.	0.841000	0.35020	0.655000	0.94253	AGC			0.612	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268874.2		NM_014329		T	67913787	G	T	67913787	3	4	96	1	0	0	0	0	1	0	0	0	4913	971	34	2	1918	2	EDC4	16	67913787	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	230309	67913787	22440966	399	7184											
CLEC18C	283971	broad.mit.edu	37	chr16	70211324	70211324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggtttgcagaggggcagCggtacagccacgcggcagga	9	6	17	9	3	0	1	0	0	0	1	0	2	0	2	1	6	4	5	1	6	2	3	rs549038893		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:70211324C>T	ENST00000569347.2	+	3	651	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	CLEC18C_ENST00000541793.2_Missense_Mutation_p.R133W|CLEC18C_ENST00000314151.8_Missense_Mutation_p.R133W|CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000536907.2_Missense_Mutation_p.R133W	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	133	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						AGAGGGGCAGCGGTACAGCCA	0.647																																					p.R133W													.	CLEC18C	15		0			c.C397T												51	53	52					16																	70211324		2174	4235	6409	SO:0001583	missense	283971	exon3			GGGCAGCGGTACA	AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"C-type lectin domain containing"	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.397C>T	16.37:g.70211324C>T	ENSP00000455920:p.Arg133Trp		327	0	0		324	0.01	4	NM_173619	2	0	0	Q8IUW8	Missense_Mutation	SNP	ENST00000569347.2	37	CCDS32473.1	.	.	.	.	.	.	.	.	.	.	c	5.747	0.322331	0.10900	.	.	ENSG00000157335	ENST00000541793;ENST00000314151;ENST00000433156;ENST00000539438;ENST00000536907	T;T;T	0.09538	2.97;2.97;2.97	4.32	-0.229	0.13094	CAP domain (3);	1.733530	0.02305	N	0.071605	T	0.05364	0.0142	N	0.02721	-0.515	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34650	-0.9820	10	0.35671	T	0.21	.	7.2595	0.26195	0.0:0.5331:0.0:0.4669	.	133	Q8NCF0	CL18C_HUMAN	W	133;133;133;129;133	ENSP00000444875:R133W;ENSP00000326538:R133W;ENSP00000444726:R133W	ENSP00000326538:R133W	R	+	1	2	CLEC18C	68768825	0.000000	0.05858	0.881000	0.34555	0.190000	0.23558	-1.042000	0.03539	0.031000	0.15407	0.298000	0.19748	CGG			0.647	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000434588.2		NM_173619		T	70211324	C	T	70211324	3	4	96	1	0	0	0	0	1	0	0	0	3506	759	27	1	407	1	CLEC18C	16	70211324	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	2297537	70211324	20143429	400	7185											
HPR	3250	broad.mit.edu	37	chr16	72110394	72110394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaccattcagaaaatgCaacagcgaaagacattgccc	16	6	7	12	1	1	3	1	1	0	2	1	4	1	3	3	0	5	1	3	0	5	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:72110394C>T	ENST00000540303.2	+	5	493	c.461C>T	c.(460-462)gCa>gTa	p.A154V	HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.A191V|HPR_ENST00000356967.5_Missense_Mutation_p.A154V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	154	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.A154E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCAGAAAATGCAACAGCGAAA	0.463																																					p.A154V													HPR_ENST00000228226,NS,carcinoma,0,2	HPR	43	2	1	Substitution - Missense(1)	lung(1)	c.C461T												82	54	63					16																	72110394		1929	4106	6035	SO:0001583	missense	3250	exon5			AAAATGCAACAGC	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.461C>T	16.37:g.72110394C>T	ENSP00000441828:p.Ala154Val		383	0.0026109661	1		364	0.01	5	NM_020995	0		0	Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	3.983	-0.006028	0.07773	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.87179	-2.22;-2.22;-2.22	2.46	1.44	0.22558	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.287034	0.33382	N	0.004979	D	0.82563	0.5064	L	0.31926	0.97	0.09310	N	1	P	0.38473	0.633	P	0.47299	0.543	T	0.72253	-0.4347	10	0.36615	T	0.2	.	7.921	0.29846	0.4407:0.5593:0.0:0.0	.	154	P00739	HPTR_HUMAN	V	154;154;191	ENSP00000349451:A154V;ENSP00000441828:A154V;ENSP00000228226:A191V	ENSP00000228226:A191V	A	+	2	0	HP	70667895	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	1.232000	0.32636	0.340000	0.23745	0.194000	0.17425	GCA			0.463	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421696.1		NM_020995		T	72110394	C	T	72110394	3	4	96	1	0	0	0	0	1	0	0	0	7352	710	25	2	479	2	HPR	16	72110394	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1899070	72110394	18244359	401	7186											
CHST5	23563	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	75563911	75563911	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaaacacgtccatgtcGcacaaaaagatagagcgcat	16	6	8	11	3	1	2	1	0	0	2	3	2	2	2	1	0	2	3	1	0	4	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:75563911G>T	ENST00000336257.3	-	3	1766	c.372C>A	c.(370-372)tgC>tgA	p.C124*	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Nonsense_Mutation_p.C130*	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	124					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						CGTCCATGTCGCACAAAAAGA	0.632																																					p.C124X													.	.			0			c.C372A												72	64	67					16																	75563911		2198	4300	6498	SO:0001587	stop_gained	23563	exon3			CATGTCGCACAAA	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.372C>A	16.37:g.75563911G>T	ENSP00000338783:p.Cys124*		109	0	0		116	0.08	9	NM_024533	0		0	B2RV23|Q7LCN3|Q9UBY3	Nonsense_Mutation	SNP	ENST00000336257.3	37	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.649885	0.29336	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	.	.	.	2.73	1.74	0.24563	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8585	0.13571	0.419:0.0:0.581:0.0	.	.	.	.	X	124;130	.	ENSP00000338783:C124X	C	-	3	2	CHST5	74121412	0.780000	0.28664	0.999000	0.59377	0.423000	0.31445	-0.063000	0.11655	0.457000	0.26962	0.313000	0.20887	TGC			0.632	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269025.2		NM_012126		T	75563911	G	T	75563911	4	4	96	1	0	0	0	0	0	1	0	0	3409	1079	38	1	867	1	CHST5	16	75563911	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3453517	75563911	14790842	402	7187											
PKD1L2	114780	broad.mit.edu	37	chr16	81204552	81204552	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgggagctactcacctggGccgagggtgtgagttcctta	7	10	15	9	1	1	1	1	1	0	0	2	4	2	2	3	3	2	2	3	3	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:81204552G>T	ENST00000527937.1	-	0	4165				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_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						ACTCACCTGGGCCGAGGGTGT	0.607																																					p.A969D													.	PKD1L2	361		0			c.C2906A												60	61	61					16																	81204552		2124	4238	6362			114780	exon17			ACCTGGGCCGAGG	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.81204552G>T			107	0	0		100	0.03	3	NM_001076780	0		0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		.	.	.	.	.	.	.	.	.	.	G	15.19	2.761310	0.49468	.	.	ENSG00000166473	ENST00000531391;ENST00000337114	T;T	0.37584	1.19;3.84	4.91	4.91	0.64330	Egg jelly receptor, REJ-like (1);	0.199114	0.42548	D	0.000689	T	0.60353	0.2262	.	.	.	0.28490	N	0.914549	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.59674	-0.7410	9	0.87932	D	0	-8.5102	15.0165	0.71588	0.0:0.0:1.0:0.0	.	969;969	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	D	284;969	ENSP00000436309:A284D;ENSP00000337397:A969D	ENSP00000337397:A969D	A	-	2	0	PKD1L2	79762053	1.000000	0.71417	0.980000	0.43619	0.045000	0.14185	4.528000	0.60580	2.270000	0.75569	0.549000	0.68633	GCC			0.607	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene		OTTHUMT00000387978.1				T	81204552	G	T	81204552	1	4	96	0	1	0	0	0	0	0	0	0	11982	1203	42	2		2	PKD1L2	16	81204552	RNA	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5640641	81204552	9150201	403	7188											
FAM92B	339145	mdanderson.org	37	chr16	85139014	85139014	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggctggagtccacagcGgccctctgcactctggtctc	4	9	13	15	2	3	0	0	0	3	0	5	1	4	1	2	4	3	2	2	4	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr16:85139014G>T	ENST00000539556.1	-	6	611	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	152										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGTCCACAGCGGCCCTCTGCA	0.612																																					p.A152A													.	.			0			c.C456A												61	53	56					16																	85139014		2198	4300	6498	SO:0001819	synonymous_variant	339145	exon5			CACAGCGGCCCTC		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.456C>A	16.37:g.85139014G>T			48	0	0		40	0.08	3	NM_198491	0		0		Silent	SNP	ENST00000539556.1	37	CCDS32500.1																																																																																					0.612	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_198491		T	85139014	G	T	85139014	2	4	96	1	0	0	0	0	0	0	0	1	5666	1103	39	1		1	FAM92B	16	85139014	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3934462	85139014	5215739	404	7189											
INPP5K	51763	broad.mit.edu	37	chr17	1410277	1410277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccactccctcctcacctgGtgtcatagtcgttggagttc	5	12	8	16	1	2	0	2	0	0	0	6	1	4	1	5	2	0	2	5	2	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:1410277G>T	ENST00000421807.2	-	7	1161	c.773C>A	c.(772-774)aCc>aAc	p.T258N	INPP5K_ENST00000406424.4_Missense_Mutation_p.T182N|INPP5K_ENST00000397335.3_Missense_Mutation_p.T166N|INPP5K_ENST00000542125.1_Missense_Mutation_p.T162N|INPP5K_ENST00000320345.6_Missense_Mutation_p.T182N	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	258	Catalytic. {ECO:0000255}.				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						TCCTCACCTGGTGTCATAGTC	0.567																																					p.T258N													.	INPP5K	30		0			c.C773A												92	82	86					17																	1410277		2203	4300	6503	SO:0001583	missense	51763	exon7			CACCTGGTGTCAT		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.773C>A	17.37:g.1410277G>T	ENSP00000413937:p.Thr258Asn		134	0	0		196	0.02	4	NM_016532	65	0	0	B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	ENST00000421807.2	37	CCDS11004.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897170	0.91962	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000397335;ENST00000542125;ENST00000449479	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.68	5.68	0.88126	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.094471	0.64402	D	0.000001	D	0.93207	0.7836	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.76494	0.999;0.958	D;D	0.69479	0.964;0.936	D	0.94266	0.7506	10	0.72032	D	0.01	.	18.7706	0.91890	0.0:0.0:1.0:0.0	.	162;258	F5GXZ0;Q9BT40	.;INP5K_HUMAN	N	182;182;258;182;166;162;166	ENSP00000385177:T182N;ENSP00000318476:T182N;ENSP00000380496:T166N;ENSP00000440147:T162N;ENSP00000413259:T166N	ENSP00000318476:T182N	T	-	2	0	INPP5K	1357027	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.468000	0.80943	2.670000	0.90874	0.655000	0.94253	ACC			0.567	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319381.4				T	1410277	G	T	1410277	3	4	96	1	0	0	0	0	1	0	0	0	7775	1261	44	3	597	3	INPP5K	17	1410277	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		1410277	79784933	405	7190											
RILP	8578	broad.mit.edu	37	chr17	1549758	1549758	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcctctggggcggctgagGcccccagacaaaggtgttcg	7	6	16	12	2	1	2	0	1	1	1	2	2	1	2	3	6	0	2	3	6	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:1549758G>T	ENST00000263071.4	-	0	0				SCARF1_ENST00000571272.1_5'Flank|SCARF1_ENST00000574545.1_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.A395D|SCARF1_ENST00000348987.3_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCGGCTGAGGCCCCCAGACA	0.642																																					p.A395D													.	RILP	24		0			c.C1184A												75	74	75					17																	1549758		2203	4300	6503	SO:0001631	upstream_gene_variant	83547	exon8			GCTGAGGCCCCCA	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1549758G>T	Exception_encountered		120	0	0		169	0.03	5	NM_031430	41	0	0	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607829	0.46527	.	.	ENSG00000167705	ENST00000301336	T	0.31769	1.48	4.82	3.83	0.44106	.	0.833933	0.09556	U	0.786297	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.32289	0.143	T	0.23619	-1.0183	10	0.62326	D	0.03	-30.488	7.2151	0.25955	0.1384:0.0:0.8616:0.0	.	395	Q96NA2	RILP_HUMAN	D	395	ENSP00000301336:A395D	ENSP00000301336:A395D	A	-	2	0	RILP	1496508	0.027000	0.19231	0.226000	0.23910	0.158000	0.22134	0.382000	0.20635	1.063000	0.40649	0.561000	0.74099	GCC			0.642	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207081.4		NM_003693		T	1549758	G	T	1549758	1	4	96	0	1	0	0	0	0	0	0	0	13383	1203	42	2		2	RILP	17	1549758	5'Flank	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	139481	1549758	79645452	406	7191											
ZZEF1	23140	broad.mit.edu	37	chr17	3975931	3975931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attccggtgtgggtgagtggGccagcttgcttctaattcca	6	13	13	9	1	1	1	0	1	1	0	3	1	3	1	3	3	2	2	3	3	1	5	rs370550753		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:3975931G>A	ENST00000381638.2	-	25	3929	c.3805C>T	c.(3805-3807)Ccc>Tcc	p.P1269S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1269							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						GGGTGAGTGGGCCAGCTTGCT	0.428																																					p.P1269S													.	ZZEF1	195		0			c.C3805T												102	96	98					17																	3975931		2203	4300	6503	SO:0001583	missense	23140	exon25			GAGTGGGCCAGCT	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.3805C>T	17.37:g.3975931G>A	ENSP00000371051:p.Pro1269Ser		181	0	0		214	0.02	4	NM_015113	1	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302820	0.40795	.	.	ENSG00000074755	ENST00000381638	T	0.19532	2.14	5.54	3.55	0.40652	.	0.337912	0.31071	N	0.008310	T	0.14960	0.0361	L	0.43152	1.355	0.30505	N	0.770016	B	0.20368	0.044	B	0.19148	0.024	T	0.21861	-1.0233	10	0.10902	T	0.67	-13.1459	8.3153	0.32097	0.0735:0.0:0.6363:0.2902	.	1269	O43149	ZZEF1_HUMAN	S	1269	ENSP00000371051:P1269S	ENSP00000371051:P1269S	P	-	1	0	ZZEF1	3922680	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.200000	0.51051	0.898000	0.36418	0.650000	0.86243	CCC			0.428	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207480.1		NM_015113		A	3975931	G	A	3975931	3	1	96	1	0	0	0	0	1	0	0	0	18278	1203	42	2	5204	2	ZZEF1	17	3975931	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2426173	3975931	77219279	407	7192											
ARRB2	409	broad.mit.edu	37	chr17	4619841	4619841	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccaccccggccccccAcccgcctgcaggaccggctg	6	2	9	24	3	0	0	0	0	0	0	0	1	0	1	10	3	2	2	10	3	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:4619841A>C	ENST00000269260.2	+	5	528	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P|ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	99					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCGGCCCCCCACCCGCCTGCA	0.682																																					p.T99P													.	ARRB2	30		0			c.A295C																																									SO:0001583	missense	409	exon5			CCCCCCACCCGCC		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.295A>C	17.37:g.4619841A>C	ENSP00000269260:p.Thr99Pro		46	0.3043478261	14		66	0.32	21	NM_001257329	36	0.06	2	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340849	0.81911	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.23147	1.92;1.92	4.84	4.84	0.62591	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.051921	0.85682	D	0.000000	T	0.60612	0.2282	H	0.94222	3.51	0.80722	D	1	D;D;D;B;D	0.76494	0.999;0.974;0.99;0.26;0.963	D;P;D;B;P	0.77004	0.989;0.816;0.912;0.089;0.884	T	0.71951	-0.4437	10	0.87932	D	0	-9.8224	12.4157	0.55492	1.0:0.0:0.0:0.0	.	99;84;99;84;99	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	P	99;99;84;100	ENSP00000269260:T99P;ENSP00000341895:T84P	ENSP00000269260:T99P	T	+	1	0	ARRB2	4566590	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.916000	0.75776	2.050000	0.60909	0.460000	0.39030	ACC			0.682	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439552.1		NM_004313		C	4619841	A	C	4619841	3	2	96	1	0	0	0	0	1	0	0	0	981	159	6	4	313	4	ARRB2	17	4619841	Missense_Mutation	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	643910	4619841	76575369	408	7193											
ZMYND15	84225	broad.mit.edu	37	chr17	4645281	4645281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgcggacatggggtccccGgccaggcttcacctttgctt	6	10	12	13	2	1	0	1	0	0	0	2	1	2	1	4	5	2	2	4	5	1	3	rs143837890		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:4645281G>A	ENST00000433935.1	+	4	956	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	ZMYND15_ENST00000592813.1_Missense_Mutation_p.R300Q|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000269289.6_Missense_Mutation_p.R300Q|ZMYND15_ENST00000573751.2_Missense_Mutation_p.R300Q|CXCL16_ENST00000293778.6_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	300					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						TGGGGTCCCCGGCCAGGCTTC	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		17366	0		0	False		,,,				2504	0				p.R300Q													.	ZMYND15	87		0			c.G899A							G	GLN/ARG,GLN/ARG	16,4390	22.3+/-47.3	0,16,2187	78	84	82		899,899	2.1	1	17	dbSNP_134	82	0,8600		0,0,4300	yes	missense,missense	ZMYND15	NM_001136046.1,NM_032265.1	43,43	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	benign,benign	300/743,300/704	4645281	16,12990	2203	4300	6503	SO:0001583	missense	84225	exon4			GTCCCCGGCCAGG	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.899G>A	17.37:g.4645281G>A	ENSP00000391742:p.Arg300Gln		221	0	0		328	0.01	4	NM_001136046	0		0	B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	CCDS45584.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.97	2.395032	0.42512	0.003631	0.0	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.48522	0.83;0.81	5.15	2.14	0.27477	.	0.319154	0.26300	N	0.025173	T	0.26340	0.0643	N	0.17082	0.46	0.27909	N	0.938698	B;B	0.23591	0.088;0.07	B;B	0.12156	0.007;0.005	T	0.11641	-1.0579	10	0.33141	T	0.24	-9.9715	7.058	0.25109	0.3474:0.0:0.6526:0.0	.	300;300	B4DXY5;Q9H091	.;ZMY15_HUMAN	Q	300	ENSP00000391742:R300Q;ENSP00000269289:R300Q	ENSP00000269289:R300Q	R	+	2	0	ZMYND15	4592030	0.955000	0.32602	0.997000	0.53966	0.970000	0.65996	0.885000	0.28227	0.357000	0.24183	0.563000	0.77884	CGG			0.572	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439580.1		NM_032265		A	4645281	G	A	4645281	3	1	96	1	0	0	0	0	1	0	0	0	17731	1116	39	1	909	1	ZMYND15	17	4645281	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	25440	4645281	76549929	409	7194											
ENO3	2027	broad.mit.edu	37	chr17	4858517	4858517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctcaagggggtcatcaagGccaagtatgggaaggatgcc	12	6	14	9	0	3	0	3	0	0	0	3	2	3	2	3	5	1	1	3	5	5	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:4858517G>T	ENST00000323997.6	+	7	724	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S	ENO3_ENST00000519584.1_Missense_Mutation_p.A155S|ENO3_ENST00000518175.1_Missense_Mutation_p.A198S	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	198					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGTCATCAAGGCCAAGTATGG	0.582																																					p.A198S													.	ENO3	36		0			c.G592T												93	82	86					17																	4858517		2203	4300	6503	SO:0001583	missense	2027	exon7			ATCAAGGCCAAGT	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.592G>T	17.37:g.4858517G>T	ENSP00000324105:p.Ala198Ser		152	0	0		232	0.02	5	NM_001976	46	0	0	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280384	0.40294	.	.	ENSG00000108515	ENST00000519602;ENST00000323997;ENST00000519584;ENST00000518175	T;D;D;D	0.82167	0.63;-1.58;-1.58;-1.58	5.7	2.39	0.29439	Enolase, C-terminal (1);	0.106792	0.64402	N	0.000006	T	0.74435	0.3716	L	0.40543	1.245	0.53688	D	0.999978	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.12837	0.008;0.005;0.005;0.008	T	0.66031	-0.6024	9	.	.	.	-20.0863	13.0427	0.58908	0.0:0.0:0.582:0.418	.	198;155;105;198	P13929;P13929-3;D3DTL4;D3DTL2	ENOB_HUMAN;.;.;.	S	198;198;155;198	ENSP00000430055:A198S;ENSP00000324105:A198S;ENSP00000430636:A155S;ENSP00000431087:A198S	.	A	+	1	0	ENO3	4799263	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.844000	0.62846	0.717000	0.32145	-0.302000	0.09304	GCC			0.582	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216851.2				T	4858517	G	T	4858517	3	4	96	1	0	0	0	0	1	0	0	0	5130	1203	42	2	614	2	ENO3	17	4858517	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	213236	4858517	76336693	410	7195											
NLRP1	22861	broad.mit.edu	37	chr17	5461937	5461937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggttcctcccctgagacagCcggcagtgaaagatgttctc	9	9	11	12	1	1	3	0	2	1	2	4	4	3	3	4	2	1	3	4	2	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:5461937C>T	ENST00000572272.1	-	4	2078	c.2079G>A	c.(2077-2079)cgG>cgA	p.R693R	NLRP1_ENST00000577119.1_Silent_p.R693R|NLRP1_ENST00000345221.3_Silent_p.R693R|NLRP1_ENST00000269280.4_Silent_p.R693R|NLRP1_ENST00000262467.5_Silent_p.R693R|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.R693R			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	693					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)				CCTGAGACAGCCGGCAGTGAA	0.562																																					p.R693R													.	NLRP1	358		0			c.G2079A												87	81	83					17																	5461937		2203	4300	6503	SO:0001819	synonymous_variant	22861	exon4			AGACAGCCGGCAG	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.2079G>A	17.37:g.5461937C>T			132	0.0075757576	1		156	0.02	3	NM_033007	0		0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																					0.562	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439517.1		NM_033004		T	5461937	C	T	5461937	2	4	96	1	0	0	0	0	0	0	0	1	10488	726	26	2		2	NLRP1	17	5461937	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	603420	5461937	75733273	411	7196											
TEKT1	83659	broad.mit.edu	37	chr17	6733661	6733662	+	Frame_Shift_Ins	INS	-	-	G																															aatgtgccactctgagggcaINSggaacttgggtggaggttgt																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:6733661_6733662insG	ENST00000338694.2	-	2	163_164	c.34_35insC	c.(34-36)ctgfs	p.L12fs	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	12						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTCTGAGGGCAGGAACTTGGGT	0.455																																					p.L12fs													.	TEKT1	49		0			c.35_36insC																																									SO:0001589	frameshift_variant	83659	exon2			GAGGGCAGGAACT		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.35dupC	17.37:g.6733663_6733663dupG	ENSP00000341346:p.Leu12fs		287	0	0		448	0.02	8	NM_053285	0		0	D3DTM7	Frame_Shift_Ins	INS	ENST00000338694.2	37	CCDS11083.1																																																																																					0.455	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219867.2		NM_053285		G	6733662	-	G	6733661	7	5	96	1	0	1	1	0	0	0	0	0	15775	188	7	0	1249	0	TEKT1	17	6733661	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	1271724	6733661	74461549	412	7197											
DLG4	1742	broad.mit.edu	37	chr17	7097791	7097791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggaagccgcagtccttgGtcttgtcgtaatcaaacagg	10	10	11	10	2	3	0	2	0	1	0	5	1	4	1	2	3	2	2	2	3	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:7097791G>T	ENST00000399506.2	-	12	1516	c.1325C>A	c.(1324-1326)aCc>aAc	p.T442N	DLG4_ENST00000399510.2_Missense_Mutation_p.T485N|DLG4_ENST00000302955.6_Missense_Mutation_p.T439N			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	442	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GCAGTCCTTGGTCTTGTCGTA	0.612																																					p.T485N													.	DLG4	110		0			c.C1454A												33	38	36					17																	7097791		2081	4217	6298	SO:0001583	missense	1742	exon14			TCCTTGGTCTTGT	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1325C>A	17.37:g.7097791G>T	ENSP00000382425:p.Thr442Asn		130	0.0153846154	2		203	0.02	5	NM_001365	11	0	0	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37		.	.	.	.	.	.	.	.	.	.	G	18.36	3.607244	0.66558	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.50001	0.76;0.76;0.76	5.3	4.32	0.51571	Src homology-3 domain (4);	.	.	.	.	T	0.37046	0.0989	N	0.16602	0.42	0.58432	D	0.999997	B;B;P;B	0.37548	0.016;0.037;0.599;0.313	B;B;B;B	0.43701	0.043;0.043;0.428;0.352	T	0.11767	-1.0574	9	0.19590	T	0.45	.	13.7202	0.62723	0.0:0.1553:0.8447:0.0	.	482;442;439;485	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	N	442;439;485;485;382;485	ENSP00000382425:T442N;ENSP00000307471:T439N;ENSP00000382428:T485N	ENSP00000293813:T485N	T	-	2	0	DLG4	7038515	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	1.455000	0.47813	0.655000	0.94253	ACC			0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000259419.2		NM_001365		T	7097791	G	T	7097791	3	4	96	1	0	0	0	0	1	0	0	0	4562	1261	44	3	885	3	DLG4	17	7097791	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	364130	7097791	74097419	413	7198											
ACADVL	37	broad.mit.edu	37	chr17	7126059	7126059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctttgatggagtacgggtgCcatcggagaacgtgctgggt	7	11	16	7	3	1	2	0	1	1	1	2	4	1	3	1	4	4	2	1	4	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:7126059C>T	ENST00000356839.5	+	10	1131	c.952C>T	c.(952-954)Cca>Tca	p.P318S	ACADVL_ENST00000543245.2_Missense_Mutation_p.P341S|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Missense_Mutation_p.P296S	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	318	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AGTACGGGTGCCATCGGAGAA	0.567																																					p.P341S													.	ACADVL	43		0			c.C1021T												138	124	129					17																	7126059		2203	4300	6503	SO:0001583	missense	37	exon11			CGGGTGCCATCGG	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.952C>T	17.37:g.7126059C>T	ENSP00000349297:p.Pro318Ser		119	0.0084033613	1		169	0.02	3	NM_001270447	364	0	0	B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398670	0.83120	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.99830	-7.01;-7.01	5.09	5.09	0.68999	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.058346	0.64402	D	0.000002	D	0.99825	0.9922	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.997;0.997;0.967	D	0.96782	0.9576	10	0.87932	D	0	.	16.0318	0.80582	0.0:1.0:0.0:0.0	.	341;296;318	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	S	341;364;296;318;364	ENSP00000438689:P341S;ENSP00000344152:P296S	ENSP00000325395:P318S	P	+	1	0	ACADVL	7066783	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	6.107000	0.71517	2.655000	0.90218	0.655000	0.94253	CCA			0.567	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000220001.5		NM_000018		T	7126059	C	T	7126059	3	4	96	1	0	0	0	0	1	0	0	0	116	739	26	2	990	2	ACADVL	17	7126059	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	28268	7126059	74069151	414	7199											
EIF5A	1984	broad.mit.edu	37	chr17	7214926	7214926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgccatgacagaggaGgcagctgttgcaatcaaggc	10	8	13	10	0	2	2	1	1	1	1	2	3	2	3	1	3	3	4	1	3	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:7214926G>T	ENST00000336458.8	+	5	833	c.432G>T	c.(430-432)gaG>gaT	p.E144D	EIF5A_ENST00000576930.1_Missense_Mutation_p.E144D|EIF5A_ENST00000571955.1_Missense_Mutation_p.E144D|GPS2_ENST00000391950.3_Intron|EIF5A_ENST00000572815.1_Missense_Mutation_p.E176D|EIF5A_ENST00000573542.1_Missense_Mutation_p.E144D|EIF5A_ENST00000416016.2_Missense_Mutation_p.E144D|EIF5A_ENST00000419711.2_Missense_Mutation_p.E144D|EIF5A_ENST00000336452.7_Missense_Mutation_p.E174D	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	144					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TGACAGAGGAGGCAGCTGTTG	0.512																																					p.E174D													.	EIF5A	28		0			c.G522T												151	124	133					17																	7214926		2203	4300	6503	SO:0001583	missense	1984	exon5			AGAGGAGGCAGCT		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.432G>T	17.37:g.7214926G>T	ENSP00000336776:p.Glu144Asp		170	0	0		223	0.01	3	NM_001143760	5067	0	0	A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027910	0.75390	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.59083	0.29;0.41;0.41;0.41	4.44	2.45	0.29901	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.64402	D	0.000001	T	0.73999	0.3659	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.74041	-0.3792	10	0.66056	D	0.02	-9.8502	5.0767	0.14634	0.3782:0.0:0.6218:0.0	.	144;174	P63241;P63241-2	IF5A1_HUMAN;.	D	174;144;144;144	ENSP00000336702:E174D;ENSP00000336776:E144D;ENSP00000390677:E144D;ENSP00000396073:E144D	ENSP00000336702:E174D	E	+	3	2	EIF5A	7155650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.159000	0.50731	1.232000	0.43678	-0.142000	0.14014	GAG			0.512	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000220047.3		NM_001970		T	7214926	G	T	7214926	3	4	96	1	0	0	0	0	1	0	0	0	5048	991	35	3	540	3	EIF5A	17	7214926	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	88867	7214926	73980284	415	7200											
SHBG	6462	broad.mit.edu	37	chr17	7533538	7533538	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgcctgctgctgttgctGctgttgctactactgcgtca	3	14	11	13	3	1	0	1	0	0	0	2	0	1	0	1	0	8	7	1	0	2	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:7533538G>T	ENST00000380450.4	+	1	79	c.48G>T	c.(46-48)ctG>ctT	p.L16L	SHBG_ENST00000416273.3_Silent_p.L16L|SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000575314.1_Intron|SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572182.1_Intron|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000441599.2_Silent_p.L16L|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575903.1_Silent_p.L16L|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000572262.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	16					primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	tgctgttgctgctgttgctac	0.612																																					p.L16L													.	SHBG	21		1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.G48T												70	57	62					17																	7533538		2203	4300	6503	SO:0001819	synonymous_variant	6462	exon1			GTTGCTGCTGTTG		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"androgen binding protein"	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.48G>T	17.37:g.7533538G>T			64	0	0		105	0.04	4	NM_001040	0		0	B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	CCDS11117.1																																																																																					0.612	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000226957.2		NM_001040		T	7533538	G	T	7533538	2	4	96	1	0	0	0	0	0	0	0	1	14292	1306	46	2		2	SHBG	17	7533538	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	318612	7533538	73661672	416	7201											
KRBA2	124751	broad.mit.edu	37	chr17	8272513	8272513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttctgaagcttcaggagtgGgatccatgtcatcgtccata	9	12	11	9	1	3	1	2	1	1	0	6	3	5	3	2	2	1	2	2	2	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:8272513G>T	ENST00000331336.2	-	2	1423	c.1418C>A	c.(1417-1419)cCc>cAc	p.P473H	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.P391H	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	473					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						TTCAGGAGTGGGATCCATGTC	0.512																																					p.P473H													.	KRBA2	34		0			c.C1418A												143	127	133					17																	8272513		2203	4300	6503	SO:0001583	missense	124751	exon2			GGAGTGGGATCCA	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.1418C>A	17.37:g.8272513G>T	ENSP00000328017:p.Pro473His		158	0	0		256	0.02	6	NM_213597	6	0	0	Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.760986	0.31137	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.27402	1.73;1.67	2.56	1.58	0.23477	.	.	.	.	.	T	0.34395	0.0896	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.09818	-1.0657	9	0.72032	D	0.01	.	5.5102	0.16876	0.1565:0.0:0.8435:0.0	.	473	Q6ZNG9	KRBA2_HUMAN	H	391;473	ENSP00000379565:P391H;ENSP00000328017:P473H	ENSP00000328017:P473H	P	-	2	0	KRBA2	8213238	0.598000	0.26882	0.002000	0.10522	0.017000	0.09413	2.959000	0.49153	0.654000	0.30846	0.650000	0.86243	CCC			0.512	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256338.1		NM_213597		T	8272513	G	T	8272513	3	4	96	1	0	0	0	0	1	0	0	0	8455	1232	43	3	64	3	KRBA2	17	8272513	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	738975	8272513	72922697	417	7202											
GAS7	8522	mdanderson.org	37	chr17	10101685	10101685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccggagaaggggtacaggGtccggcagcgagcgccggac	8	2	18	13	5	0	1	0	0	0	1	1	4	1	2	4	6	3	2	4	6	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:10101685G>T	ENST00000432992.2	-	1	183	c.23C>A	c.(22-24)aCc>aAc	p.T8N	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	8	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GGGGTACAGGGTCCGGCAGCG	0.756			T	MLL	AML*																																p.T8N				Dom	yes		17	17p	8522	growth arrest-specific 7		L	.	.			0			c.C23A												8	10	9					17																	10101685		2132	4169	6301	SO:0001583	missense	8522	exon1			TACAGGGTCCGGC	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.23C>A	17.37:g.10101685G>T	ENSP00000407552:p.Thr8Asn		10	0	0		17	0.12	2	NM_201433	11	0	0	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858263	0.51376	.	.	ENSG00000007237	ENST00000323816	.	.	.	3.37	3.37	0.38596	Src homology-3 domain (4);	0.122142	0.31989	U	0.006757	T	0.53158	0.1779	L	0.57536	1.79	0.80722	D	1	P	0.37636	0.603	B	0.38985	0.287	T	0.54549	-0.8277	8	.	.	.	-16.1099	12.2492	0.54589	0.0:0.0:1.0:0.0	.	8	O60861	GAS7_HUMAN	N	8	.	.	T	-	2	0	GAS7	10042410	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.863000	0.48396	1.731000	0.51592	0.455000	0.32223	ACC			0.756	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439883.1		NM_003644, NM_201432, NM_201433		T	10101685	G	T	10101685	3	4	96	1	0	0	0	0	1	0	0	0	6264	1261	44	3	1521	3	GAS7	17	10101685	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1829172	10101685	71093525	418	7203											
MYH3	4621	broad.mit.edu	37	chr17	10545596	10545597	+	Frame_Shift_Ins	INS	-	-	CC																															tttggaaggaagaacccttcINSttcttggcaactttcttctt																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:10545596_10545597insCC	ENST00000583535.1	-	17	2006_2007	c.1919_1920insGG	c.(1918-1920)aagfs	p.K640fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.K640fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	640	Myosin motor.				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						AAGAACCCTTCTTCTTGGCAAC	0.381																																					p.K640fs													.	MYH3	227		0			c.1920_1921insGG																																									SO:0001589	frameshift_variant	4621	exon17			ACCCTTCTTCTTG		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.1919_1920insGG	17.37:g.10545596_10545597insCC	ENSP00000464317:p.Lys640fs		571	0	0		848	0	4	NM_002470	2	0	0	Q15492	Frame_Shift_Ins	INS	ENST00000583535.1	37	CCDS11157.1																																																																																					0.381	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252734.2		NM_002470		CC	10545597	-	CC	10545596	7	5	96	1	0	1	1	0	0	0	0	0	10052	912	32	0	4002	0	MYH3	17	10545596	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	443911	10545596	70649614	419	7204											
DNAH9	1770	broad.mit.edu	37	chr17	11648286	11648286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcttcatgggcctgatcgGggacctctttcccgccctgg	4	11	11	15	2	3	1	1	1	2	0	5	2	4	2	4	4	0	0	4	4	0	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:11648286G>A	ENST00000262442.4	+	31	6352	c.6284G>A	c.(6283-6285)gGg>gAg	p.G2095E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2095E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2095					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)		GGCCTGATCGGGGACCTCTTT	0.582																																					p.G2095E													.	DNAH9	695		0			c.G6284A												73	74	74					17																	11648286		2203	4300	6503	SO:0001583	missense	1770	exon31			TGATCGGGGACCT	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.6284G>A	17.37:g.11648286G>A	ENSP00000262442:p.Gly2095Glu		173	0	0		236	0.01	3	NM_001372	0		0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530877	0.85706	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.37411	1.2;1.2	5.46	4.5	0.54988	.	0.066039	0.64402	D	0.000012	T	0.52256	0.1723	M	0.78344	2.41	0.80722	D	1	P	0.51057	0.941	P	0.52598	0.703	T	0.58601	-0.7608	10	0.56958	D	0.05	.	14.2358	0.65925	0.0717:0.0:0.9283:0.0	.	2095	Q9NYC9	DYH9_HUMAN	E	2095;2095;677	ENSP00000262442:G2095E;ENSP00000414874:G2095E	ENSP00000262442:G2095E	G	+	2	0	DNAH9	11589011	1.000000	0.71417	0.817000	0.32601	0.835000	0.47333	9.813000	0.99286	1.314000	0.45095	0.650000	0.86243	GGG			0.582	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252756.2		NM_001372		A	11648286	G	A	11648286	3	1	96	1	0	0	0	0	1	0	0	0	4613	1232	43	3	6406	3	DNAH9	17	11648286	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1102690	11648286	69546924	420	7205											
COX10	1352	broad.mit.edu	37	chr17	14095488	14095488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcggagctgtggttggggCcatcccgcctgtcatgggct	3	10	17	11	2	1	0	1	0	0	0	3	1	2	1	3	6	1	3	3	6	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:14095488C>T	ENST00000261643.3	+	6	955	c.878C>T	c.(877-879)gCc>gTc	p.A293V	COX10_ENST00000536205.1_Missense_Mutation_p.A101V|COX10_ENST00000537334.1_Missense_Mutation_p.A76V	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	293					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GTGGTTGGGGCCATCCCGCCT	0.582																																					p.A293V													.	COX10	36		0			c.C878T												43	46	45					17																	14095488		2203	4296	6499	SO:0001583	missense	1352	exon6			TTGGGGCCATCCC	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.878C>T	17.37:g.14095488C>T	ENSP00000261643:p.Ala293Val		262	0	0		318	0.01	4	NM_001303	21	0	0	B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739275	0.89573	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.93189	-3.18;-3.18;-3.18	4.7	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	H	0.97516	4.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.98600	1.0658	10	0.87932	D	0	-0.5408	13.6747	0.62447	0.0:0.8451:0.1549:0.0	.	101;293	B4DJ50;Q12887	.;COX10_HUMAN	V	293;101;76	ENSP00000261643:A293V;ENSP00000439494:A101V;ENSP00000443354:A76V	ENSP00000261643:A293V	A	+	2	0	COX10	14036213	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.109000	0.77062	1.128000	0.42052	-0.121000	0.15023	GCC			0.582	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130003.1		NM_001303		T	14095488	C	T	14095488	3	4	96	1	0	0	0	0	1	0	0	0	3764	739	26	2	900	2	COX10	17	14095488	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	2447202	14095488	67099722	421	7206											
TTC19	54902	broad.mit.edu	37	chr17	15930740	15930740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcactgaagcaagcaaaGctgaaaaaagatgaaatttc	20	6	9	6	0	0	4	0	3	0	1	1	5	0	4	0	0	4	4	0	0	8	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:15930740G>T	ENST00000261647.5	+	10	1516	c.1047G>T	c.(1045-1047)aaG>aaT	p.K349N	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Missense_Mutation_p.K470N	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	349					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGCAAGCAAAGCTGAAAAAAG	0.383																																					p.K349N													.	TTC19	10		0			c.G1047T												118	107	111					17																	15930740		2203	4300	6503	SO:0001583	missense	54902	exon10			AGCAAAGCTGAAA	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"Tetratricopeptide (TTC) repeat domain containing"	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.1047G>T	17.37:g.15930740G>T	ENSP00000261647:p.Lys349Asn		148	0	0		241	0.03	7	NM_017775	177	0	0	A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Missense_Mutation	SNP	ENST00000261647.5	37	CCDS11174.2	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997718	0.54147	.	.	ENSG00000011295	ENST00000261647;ENST00000555605	D	0.84223	-1.82	6.17	5.2	0.72013	.	0.381500	0.32287	N	0.006307	T	0.73776	0.3630	N	0.14661	0.345	0.36781	D	0.884321	B	0.25007	0.116	B	0.18263	0.021	T	0.75499	-0.3296	10	0.62326	D	0.03	-3.2648	12.5579	0.56265	0.1374:0.0:0.8626:0.0	.	112	B3KT23	.	N	349;470	ENSP00000261647:K349N	ENSP00000261647:K470N	K	+	3	2	TTC19	15871465	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.360000	0.34125	1.621000	0.50320	0.655000	0.94253	AAG			0.383	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000131725.6		NM_017775		T	15930740	G	T	15930740	3	4	96	1	0	0	0	0	1	0	0	0	16710	962	34	2	1448	2	TTC19	17	15930740	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1835252	15930740	65264470	422	7207											
UBB	7314	broad.mit.edu	37	chr17	16285329	16285330	+	Frame_Shift_Ins	INS	-	-	C																															tccaggataaggaaggcattINSccccccgaccagcagaggct																								rs16962978	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:16285329_16285330insC	ENST00000395837.1	+	2	289_290	c.108_109insC	c.(109-111)cccfs	p.P37fs	UBB_ENST00000535788.1_Frame_Shift_Ins_p.P37fs|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Frame_Shift_Ins_p.P37fs|UBB_ENST00000302182.3_Frame_Shift_Ins_p.P37fs|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	37	Ubiquitin-like 1. {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)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGGAAGGCATTCCCCCCGACCA	0.54																																					p.I36fs	Melanoma(163;1126 3406 34901)												.	UBB	30		0			c.108_109insC																																									SO:0001589	frameshift_variant	7314	exon2			AGGCATTCCCCCC		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.114dupC	17.37:g.16285335_16285335dupC	ENSP00000379178:p.Pro37fs		125	0	0		208	0.03	6	NM_018955	5465	0	0	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Frame_Shift_Ins	INS	ENST00000395837.1	37	CCDS11177.1																																																																																					0.54	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000130459.1		NM_018955		C	16285330	-	C	16285329	7	5	96	1	0	1	1	0	0	0	0	0	16865	1771	62	0	110	0	UBB	17	16285329	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	354589	16285329	64909881	423	7208											
FLII	2314	broad.mit.edu	37	chr17	18155412	18155412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactcagcggcacggtctgCgggcttgggcggcatgacca	6	6	15	14	4	2	1	1	1	1	0	2	1	2	1	2	5	2	3	2	5	0	1	rs377757631		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:18155412C>T	ENST00000327031.4	-	11	1372	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	FLII_ENST00000545457.2_Missense_Mutation_p.A329T|FLII_ENST00000579294.1_Missense_Mutation_p.A372T|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000578558.1_Missense_Mutation_p.A383T|FLII_ENST00000379450.4_Missense_Mutation_p.A298T	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	383	Interaction with LRRFIP1 and LRRFIP2.				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)					GCACGGTCTGCGGGCTTGGGC	0.657																																					p.A383T													FLII,right_upper_lobe,carcinoma,+1,1	FLII	79	1	0			c.G1147A							C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	66	62	63		1147	1.5	0	17		63	0,8600		0,0,4300	no	missense	FLII	NM_002018.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	383/1270	18155412	1,13005	2203	4300	6503	SO:0001583	missense	2314	exon11			GGTCTGCGGGCTT	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.1147G>A	17.37:g.18155412C>T	ENSP00000324573:p.Ala383Thr		140	0.0071428571	1		209	0.02	4	NM_002018	86	0	0	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	6.082	0.383347	0.11524	2.27E-4	0.0	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.25085	1.82;1.82	5.81	1.54	0.23209	.	0.345212	0.33959	N	0.004382	T	0.10637	0.0260	L	0.34521	1.04	0.09310	N	1	P;P;B;B;B	0.41710	0.76;0.76;0.177;0.004;0.041	B;B;B;B;B	0.22753	0.041;0.041;0.013;0.001;0.005	T	0.34428	-0.9829	10	0.09843	T	0.71	-9.3042	7.9836	0.30198	0.0:0.6919:0.1146:0.1935	.	298;298;383;383;352	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	T	383;383;298	ENSP00000324573:A383T;ENSP00000368763:A298T	ENSP00000324573:A383T	A	-	1	0	FLII	18096137	0.001000	0.12720	0.008000	0.14137	0.104000	0.19210	1.100000	0.31025	0.371000	0.24564	0.655000	0.94253	GCA			0.657	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132032.2		NM_002018		T	18155412	C	T	18155412	3	4	96	1	0	0	0	0	1	0	0	0	5938	768	27	1	2742	1	FLII	17	18155412	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1870083	18155412	63039798	424	7209											
SARM1	23098	broad.mit.edu	37	chr17	26712058	26712058	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctccgtggggtgcaGgttctttagggagctcacgg	4	12	14	11	2	3	0	1	0	2	0	5	1	4	1	2	5	2	3	2	5	1	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:26712058G>T	ENST00000457710.3	+	5	1763		c.e5-1		SARM1_ENST00000379061.4_Splice_Site	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1						innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GTGGGGTGCAGGTTCTTTAGG	0.647																																					.													.	SARM1	40		0			c.1392-1G>T												29	32	31					17																	26712058		2203	4300	6503	SO:0001630	splice_region_variant	23098	exon6			GGTGCAGGTTCTT	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"Sterile alpha motif (SAM) domain containing"	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1293-1G>T	17.37:g.26712058G>T			173	0	0		288	0.02	6	NM_015077	0		0	O60277|Q7LGG3|Q9NXY5	Splice_Site	SNP	ENST00000457710.3	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.641956	0.87859	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1639	0.93546	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SARM1	23736185	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.805000	0.99149	2.511000	0.84671	0.591000	0.81541	.			0.647	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding		OTTHUMT00000255679.3		NM_015077	Intron	T	26712058	G	T	26712058	5	4	96	1	0	0	0	0	0	0	1	0	13865	1014	35	3	1410	3	SARM1	17	26712058	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8556646	26712058	54483152	425	7210											
KIAA0100	9703	broad.mit.edu	37	chr17	26964021	26964021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgataggtgatggagaGcatggaaaggctgagcactg	11	8	17	5	0	0	4	0	3	0	1	0	6	0	5	0	4	2	4	0	4	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:26964021G>T	ENST00000528896.2	-	15	2013	c.1939C>A	c.(1939-1941)Ctc>Atc	p.L647I	KIAA0100_ENST00000544884.1_Missense_Mutation_p.L504I|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L504I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	647						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGATGGAGAGCATGGAAAGG	0.537																																					p.L647I													.	KIAA0100	175		0			c.C1939A												118	104	109					17																	26964021		2203	4300	6503	SO:0001583	missense	9703	exon15			TGGAGAGCATGGA	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1939C>A	17.37:g.26964021G>T	ENSP00000436773:p.Leu647Ile		162	0	0		238	0.01	3	NM_014680	13	0	0	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345491	0.24426	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.24350	1.86;1.86	5.92	3.93	0.45458	FMP27, N-terminal (1);	0.295588	0.38720	N	0.001600	T	0.17492	0.0420	L	0.27053	0.805	0.34297	D	0.68392	B	0.29552	0.248	B	0.29524	0.103	T	0.18209	-1.0344	10	0.15952	T	0.53	.	13.2426	0.60006	0.064:0.0:0.8152:0.1208	.	647	Q14667	K0100_HUMAN	I	647;647;647;504	ENSP00000436773:L647I;ENSP00000446443:L504I	ENSP00000005905:L647I	L	-	1	0	KIAA0100	23988148	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.250000	0.43178	0.827000	0.34685	-1.075000	0.02238	CTC			0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390571.3		NM_014680		T	26964021	G	T	26964021	3	4	96	1	0	0	0	0	1	0	0	0	8169	971	34	2	4868	2	KIAA0100	17	26964021	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	251963	26964021	54231189	426	7211											
CPD	1362	broad.mit.edu	37	chr17	28754503	28754503	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcagatcacagatcctacGcaaccagaaactattgctgt	13	10	7	11	1	2	3	2	0	0	3	3	3	3	3	2	0	4	3	2	0	4	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:28754503G>T	ENST00000225719.4	+	7	2020	c.1944G>T	c.(1942-1944)acG>acT	p.T648T	CPD_ENST00000543464.2_Silent_p.T401T	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	648	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGATCCTACGCAACCAGAAA	0.398																																					p.T648T													.	CPD	89		0			c.G1944T												152	135	141					17																	28754503		2203	4300	6503	SO:0001819	synonymous_variant	1362	exon7			TCCTACGCAACCA	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.1944G>T	17.37:g.28754503G>T			163	0.0122699387	2		234	0.02	4	NM_001304	6	0	0	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	CCDS11257.1																																																																																					0.398	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256214.3		NM_001304		T	28754503	G	T	28754503	2	4	96	1	0	0	0	0	0	0	0	1	3800	1074	38	1		1	CPD	17	28754503	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1790482	28754503	52440707	427	7212											
NF1	4763	broad.mit.edu	37	chr17	29664506	29664506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccttccgttccagttaccGggacaggtcattctctcctg	5	13	9	14	2	2	0	1	0	1	0	6	1	5	1	5	2	2	2	5	2	1	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:29664506G>T	ENST00000358273.4	+	43	6931	c.6548G>T	c.(6547-6549)cGg>cTg	p.R2183L	NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.R2162L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2183					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.?(3)	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)		TCCAGTTACCGGGACAGGTCA	0.453			"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)																											p.R2183L			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1	1586		11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.G6548T												144	130	135					17																	29664506		2203	4300	6503	SO:0001583	missense	4763	exon43	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	GTTACCGGGACAG		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.6548G>T	17.37:g.29664506G>T	ENSP00000351015:p.Arg2183Leu		133	0	0		228	0.02	4	NM_001042492	6	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769229	0.90020	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.10477	3.04;3.19;2.87	5.55	5.55	0.83447	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	L	0.52905	1.665	0.80722	D	1	D;B	0.63046	0.992;0.105	D;B	0.72982	0.979;0.082	T	0.00317	-1.1822	10	0.59425	D	0.04	.	19.8683	0.96840	0.0:0.0:1.0:0.0	.	2162;2183	P21359-2;P21359	.;NF1_HUMAN	L	2183;2162;1828	ENSP00000351015:R2183L;ENSP00000348498:R2162L;ENSP00000389907:R1828L	ENSP00000348498:R2162L	R	+	2	0	NF1	26688632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.274000	0.95731	2.753000	0.94483	0.655000	0.94253	CGG			0.453	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256351.2		NM_000267		T	29664506	G	T	29664506	3	4	96	1	0	0	0	0	1	0	0	0	10373	1116	39	1	6779	1	NF1	17	29664506	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	910003	29664506	51530704	428	7213											
CDK5R1	8851	broad.mit.edu	37	chr17	30815393	30815393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcccttcctggtggagaGctgcaaggaggccttttggg	7	9	15	10	0	0	1	0	0	0	1	1	3	1	2	3	5	3	2	3	5	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:30815393G>T	ENST00000313401.3	+	2	1444	c.755G>T	c.(754-756)aGc>aTc	p.S252I		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	252					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CTGGTGGAGAGCTGCAAGGAG	0.557																																					p.S252I													.	CDK5R1	30		0			c.G755T												172	158	163					17																	30815393		2203	4300	6503	SO:0001583	missense	8851	exon2			TGGAGAGCTGCAA	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.755G>T	17.37:g.30815393G>T	ENSP00000318486:p.Ser252Ile		223	0	0		277	0.02	5	NM_003885	4	0	0	E1P664|Q5U0G3	Missense_Mutation	SNP	ENST00000313401.3	37	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241553	0.39598	.	.	ENSG00000176749	ENST00000313401	T	0.77620	-1.11	5.55	4.52	0.55395	Cyclin-like (2);	0.097817	0.64402	D	0.000002	T	0.73087	0.3542	N	0.14661	0.345	0.41884	D	0.990333	D;P	0.71674	0.998;0.56	D;B	0.65010	0.931;0.14	T	0.72564	-0.4255	10	0.42905	T	0.14	-24.9043	7.0875	0.25266	0.0897:0.1749:0.7354:0.0	.	252;252	Q8N619;Q15078	.;CD5R1_HUMAN	I	252	ENSP00000318486:S252I	ENSP00000318486:S252I	S	+	2	0	CDK5R1	27839506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.854000	0.55949	2.609000	0.88269	0.557000	0.71058	AGC			0.557	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256264.1		NM_003885		T	30815393	G	T	30815393	3	4	96	1	0	0	0	0	1	0	0	0	3145	971	34	2	757	2	CDK5R1	17	30815393	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1150887	30815393	50379817	429	7214											
AMAC1	146861	broad.mit.edu	37	chr17	33521163	33521163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagccatacgagaaagggggCccacgaagccagcaggcagg	14	1	15	11	2	0	1	0	0	0	1	0	3	0	1	3	4	4	2	3	4	4	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:33521163C>T	ENST00000297307.5	-	1	249	c.164G>A	c.(163-165)gGc>gAc	p.G55D	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	55	EamA 1.					integral component of membrane (GO:0016021)											AGAAAGGGGGCCCACGAAGCC	0.647																																					p.G55D													.	.			0			c.G164A												64	69	67					17																	33521163		2203	4296	6499	SO:0001583	missense	146861	exon1			AGGGGGCCCACGA	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.164G>A	17.37:g.33521163C>T	ENSP00000297307:p.Gly55Asp		82	0	0		141	0.02	3	NM_152462	0		0	B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573315	0.28092	.	.	ENSG00000164729	ENST00000297307	T	0.53206	0.63	.	.	.	.	0.000000	0.45867	D	0.000338	T	0.45736	0.1357	N	0.24115	0.695	0.31753	N	0.634374	D	0.89917	1.0	D	0.97110	1.0	T	0.51148	-0.8742	9	0.72032	D	0.01	-6.949	3.5985	0.08016	2.0E-4:0.5013:0.4982:2.0E-4	.	55	Q8N808	S35G3_HUMAN	D	55	ENSP00000297307:G55D	ENSP00000297307:G55D	G	-	2	0	SLC35G3	30545276	0.998000	0.40836	0.403000	0.26384	0.405000	0.30901	1.479000	0.35453	0.064000	0.16427	0.064000	0.15345	GGC			0.647	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256445.2		NM_152462		T	33521163	C	T	33521163	3	4	96	1	0	0	0	0	1	0	0	0	559	739	26	2	856	2	AMAC1	17	33521163	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	2705770	33521163	47674047	430	7215											
KRT24	192666	broad.mit.edu	37	chr17	38854821	38854821	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacagcttccagatctTgagtcaccagataccagatc	13	8	7	13	0	2	5	1	1	1	4	4	5	3	5	4	0	3	1	4	0	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:38854821T>C	ENST00000264651.2	-	7	1499	c.1443A>G	c.(1441-1443)tcA>tcG	p.S481S		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	481	Tail.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTCCAGATCTTGAGTCACCAG	0.368																																					p.S481S	GBM(61;380 1051 14702 23642 31441)												.	KRT24	60		0			c.A1443G												130	144	139					17																	38854821		2203	4300	6503	SO:0001819	synonymous_variant	192666	exon7			AGATCTTGAGTCA		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1443A>G	17.37:g.38854821T>C			317	0.0031545741	1		510	0.01	6	NM_019016	0		0	Q9NXG7	Silent	SNP	ENST00000264651.2	37	CCDS11372.1																																																																																					0.368	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257217.1		NM_019016		C	38854821	T	C	38854821	2	2	96	1	0	0	0	0	0	0	0	1	8476	1799	63	4		4	KRT24	17	38854821	Silent	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	5333658	38854821	42340389	431	7216											
KRT15	3866	broad.mit.edu	37	chr17	39673161	39673161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcatccaggactcggcGcaagccgttgatgtcagcct	8	8	11	14	3	2	1	2	1	0	0	4	2	3	2	3	2	3	3	3	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:39673161G>T	ENST00000254043.3	-	3	4222	c.637C>A	c.(637-639)Cgc>Agc	p.R213S	KRT15_ENST00000393981.3_Missense_Mutation_p.R48S|KRT15_ENST00000393976.2_Missense_Mutation_p.R213S|KRT15_ENST00000393974.3_Missense_Mutation_p.R48S	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	213	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AGGACTCGGCGCAAGCCGTTG	0.592																																					p.R213S													.	KRT15	60		0			c.C637A												65	64	65					17																	39673161		2203	4300	6503	SO:0001583	missense	3866	exon3			CTCGGCGCAAGCC		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.637C>A	17.37:g.39673161G>T	ENSP00000254043:p.Arg213Ser		63	0.0158730159	1		77	0.04	3	NM_002275	9	0	0	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927689	0.52759	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0	4.87	4.87	0.63330	Filament (1);	0.000000	0.49916	D	0.000122	D	0.97087	0.9048	H	0.95611	3.695	0.43368	D	0.995454	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.74023	0.982;0.968;0.968	D	0.97969	1.0342	10	0.87932	D	0	.	14.7065	0.69194	0.0:0.0:0.8549:0.1451	.	48;213;213	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	S	213;48;213;48;48	ENSP00000254043:R213S;ENSP00000377544:R48S;ENSP00000377546:R213S;ENSP00000377550:R48S;ENSP00000409282:R48S	ENSP00000254043:R213S	R	-	1	0	KRT15	36926687	0.996000	0.38824	1.000000	0.80357	0.171000	0.22731	4.705000	0.61838	2.518000	0.84900	0.655000	0.94253	CGC			0.592	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257301.1		NM_002275		T	39673161	G	T	39673161	3	4	96	1	0	0	0	0	1	0	0	0	8467	1087	38	1	757	1	KRT15	17	39673161	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	818340	39673161	41522049	432	7217											
HAP1	9001	broad.mit.edu	37	chr17	39888331	39888331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgagtagagctggaggaGctcatcccgcaagttcacct	10	9	11	11	1	3	2	2	1	1	1	4	4	4	4	2	2	2	5	2	2	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:39888331G>T	ENST00000310778.5	-	4	763	c.754C>A	c.(754-756)Ctc>Atc	p.L252I	RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.L260I|HAP1_ENST00000393939.2_Missense_Mutation_p.L252I|HAP1_ENST00000347901.4_Missense_Mutation_p.L252I			P54257	HAP1_HUMAN	huntingtin-associated protein 1	252	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)			AGCTGGAGGAGCTCATCCCGC	0.532																																					p.L260I													.	HAP1	48		0			c.C778A												95	94	95					17																	39888331		2203	4300	6503	SO:0001583	missense	9001	exon4			GGAGGAGCTCATC	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.754C>A	17.37:g.39888331G>T	ENSP00000309392:p.Leu252Ile		109	0	0		161	0.02	4	NM_001079870	1	0	0	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	G	14.57	2.573919	0.45902	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	3.46	2.48	0.30137	.	0.000000	0.36409	N	0.002611	T	0.61578	0.2358	M	0.82517	2.595	0.47374	D	0.999404	D;D;D;D	0.71674	0.996;0.998;0.996;0.997	D;D;D;D	0.85130	0.986;0.99;0.994;0.997	T	0.62469	-0.6848	10	0.87932	D	0	-7.9535	7.0484	0.25059	0.129:0.0:0.871:0.0	.	252;260;252;252	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	I	252;252;252;260	ENSP00000377513:L252I;ENSP00000309392:L252I;ENSP00000334002:L252I;ENSP00000343170:L260I	ENSP00000309392:L252I	L	-	1	0	HAP1	37141857	1.000000	0.71417	0.902000	0.35471	0.478000	0.33099	2.962000	0.49176	0.798000	0.33994	-0.219000	0.12488	CTC			0.532	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000389619.1		NM_003949		T	39888331	G	T	39888331	3	4	96	1	0	0	0	0	1	0	0	0	6968	971	34	2	1137	2	HAP1	17	39888331	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	215170	39888331	41306879	433	7218											
GHDC	84514	broad.mit.edu	37	chr17	40342275	40342275	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtagtggggagcagaGcccgcagaggaatctgtgaa	11	6	15	9	2	1	3	0	1	1	2	2	5	1	5	2	3	2	3	2	3	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:40342275G>T	ENST00000301671.8	-	8	1743	c.1302C>A	c.(1300-1302)ggC>ggA	p.G434G	GHDC_ENST00000428494.2_Silent_p.G395G|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Silent_p.G434G|GHDC_ENST00000436923.2_Missense_Mutation_p.A464D|GHDC_ENST00000414034.3_Missense_Mutation_p.A464D|GHDC_ENST00000587427.1_Silent_p.G434G			Q8N2G8	GHDC_HUMAN	GH3 domain containing	434						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGGGAGCAGAGCCCGCAGAGG	0.547																																					p.A464D													.	GHDC	63		0			c.C1391A												114	106	108					17																	40342275		2203	4300	6503	SO:0001819	synonymous_variant	84514	exon9			AGCAGAGCCCGCA	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1302C>A	17.37:g.40342275G>T			143	0	0		212	0.01	3	NM_001142623	27	0	0	B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576915	0.45902	.	.	ENSG00000167925	ENST00000414034;ENST00000436923	.	.	.	4.6	-2.98	0.05513	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.22745	N	0.998782	B	0.13594	0.008	B	0.14023	0.01	T	0.19647	-1.0299	7	0.48119	T	0.1	-17.138	4.057	0.09821	0.3175:0.0:0.4351:0.2475	.	464	Q8N2G8-2	.	D	464	.	ENSP00000399952:A464D	A	-	2	0	GHDC	37595801	1.000000	0.71417	0.527000	0.27925	0.142000	0.21351	0.901000	0.28445	-0.737000	0.04824	-1.191000	0.01696	GCT			0.547	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000449794.1		NM_032484		T	40342275	G	T	40342275	2	4	96	1	0	0	0	0	0	0	0	1	6383	971	34	2		2	GHDC	17	40342275	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	453944	40342275	40852935	434	7219											
C17orf53	78995	broad.mit.edu	37	chr17	42226163	42226163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctactccctcaaggactaGctctggattatttcctcgga	8	14	7	12	1	3	0	1	0	2	0	6	3	5	3	2	3	2	1	2	3	4	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:42226163G>T	ENST00000319977.4	+	3	1229	c.992G>T	c.(991-993)aGc>aTc	p.S331I	C17orf53_ENST00000585683.1_Missense_Mutation_p.S331I|C17orf53_ENST00000245382.6_Missense_Mutation_p.S331I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	331										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCAAGGACTAGCTCTGGATTA	0.517																																					p.S331I													.	C17orf53	59		0			c.G992T												244	240	241					17																	42226163		2203	4300	6503	SO:0001583	missense	78995	exon3			GGACTAGCTCTGG	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.992G>T	17.37:g.42226163G>T	ENSP00000313500:p.Ser331Ile		161	0.0062111801	1		261	0.03	9	NM_001171251	40	0	0	A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148245	0.37923	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.46819	0.87;0.86	4.84	-7.3	0.01446	.	1.303370	0.04932	N	0.457017	T	0.30541	0.0768	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.12156	0.007;0.007;0.007	T	0.18209	-1.0344	10	0.23302	T	0.38	4.0227	5.9597	0.19293	0.0998:0.0854:0.4808:0.334	.	331;331;331	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	I	331	ENSP00000313500:S331I;ENSP00000245382:S331I	ENSP00000245382:S331I	S	+	2	0	C17orf53	39581689	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	-0.887000	0.04152	-0.841000	0.04200	0.561000	0.74099	AGC			0.517	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457697.1		NM_024032		T	42226163	G	T	42226163	3	4	96	1	0	0	0	0	1	0	0	0	1864	971	34	2	1002	2	C17orf53	17	42226163	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1883888	42226163	38969047	435	7220											
GRN	2896	broad.mit.edu	37	chr17	42427035	42427035	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtttctctgtgttccacagGccgtggcatgcggggatggc	4	11	16	10	2	1	0	0	0	1	0	3	1	2	1	2	6	1	3	2	6	0	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:42427035G>T	ENST00000053867.3	+	4	327	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	GRN_ENST00000589265.1_Splice_Site_p.A89S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	89					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTTCCACAGGCCGTGGCATG	0.592																																					p.A89S													.	GRN	51		0			c.G265T												45	50	48					17																	42427035		2203	4300	6503	SO:0001630	splice_region_variant	2896	exon4			CCACAGGCCGTGG	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.265-1G>T	17.37:g.42427035G>T			130	0	0		231	0.02	4	NM_002087	226	0	0	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Splice_Site	SNP	ENST00000053867.3	37	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.606333	0.87157	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	D	0.84442	-1.85	4.04	4.04	0.47022	Granulin (2);	0.519849	0.17772	N	0.162535	D	0.91240	0.7239	M	0.92880	3.355	0.54753	D	0.999988	P	0.45396	0.857	P	0.51324	0.666	D	0.92585	0.6078	9	.	.	.	-13.9008	11.5952	0.50968	0.0:0.0:1.0:0.0	.	89	P28799	GRN_HUMAN	S	89	ENSP00000053867:A89S	.	A	+	1	0	GRN	39782561	1.000000	0.71417	0.680000	0.29994	0.275000	0.26752	4.952000	0.63618	2.087000	0.62958	0.394000	0.25966	GCC			0.592	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457766.1		NM_002087	Missense_Mutation	T	42427035	G	T	42427035	5	4	96	1	0	0	0	0	0	0	1	0	6819	1217	42	2	275	2	GRN	17	42427035	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	200872	42427035	38768175	436	7221											
HEXIM1	10614	broad.mit.edu	37	chr17	43227331	43227331	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgatgggatgggaggggaCggcagcgagtttctgcagcg	8	6	20	7	4	1	0	0	0	1	0	1	5	1	3	0	5	4	3	0	5	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:43227331C>T	ENST00000332499.2	+	1	2648	c.774C>T	c.(772-774)gaC>gaT	p.D258D	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	258					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGGGAGGGGACGGCAGCGAGT	0.617																																					p.D258D													.	HEXIM1	25		0			c.C774T												50	55	54					17																	43227331		2203	4300	6503	SO:0001819	synonymous_variant	10614	exon1			AGGGGACGGCAGC	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.774C>T	17.37:g.43227331C>T			156	0	0		207	0.01	3	NM_006460	29	0	0	B2R8Y5	Silent	SNP	ENST00000332499.2	37	CCDS11495.1																																																																																					0.617	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449821.2		NM_006460		T	43227331	C	T	43227331	2	4	96	1	0	0	0	0	0	0	0	1	7091	535	19	1		1	HEXIM1	17	43227331	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	800296	43227331	37967879	437	7222											
WNT9B	7484	broad.mit.edu	37	chr17	44953813	44953813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgggcccctgccaggcaggGcagcctcaccaaaggcctgg	7	4	15	15	0	1	0	1	0	0	0	1	0	1	0	6	5	2	2	6	5	1	0	rs533419961		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:44953813G>A	ENST00000290015.2	+	4	856	c.803G>A	c.(802-804)gGc>gAc	p.G268D	WNT9B_ENST00000393461.2_Missense_Mutation_p.G268D	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	268					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCAGGCAGGGCAGCCTCACC	0.642													G|||	1	0.000199681	0	0	5008	,	,		20941	0.001		0	False		,,,				2504	0				p.G268D													.	WNT9B	37		0			c.G803A												48	49	49					17																	44953813		2199	4298	6497	SO:0001583	missense	7484	exon4			GGCAGGGCAGCCT	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.803G>A	17.37:g.44953813G>A	ENSP00000290015:p.Gly268Asp		118	0.0084745763	1		205	0.02	4	NM_003396	0		0	Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268999	0.59540	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.78595	-1.19;-0.98	4.8	4.8	0.61643	.	0.749728	0.12989	N	0.422636	T	0.69726	0.3143	N	0.24115	0.695	0.46241	D	0.998943	P;B	0.36354	0.549;0.062	B;B	0.38378	0.272;0.119	T	0.66356	-0.5944	10	0.26408	T	0.33	.	18.0484	0.89340	0.0:0.0:1.0:0.0	.	268;268	E7EPC3;O14905	.;WNT9B_HUMAN	D	262;268;268	ENSP00000377105:G268D;ENSP00000290015:G268D	ENSP00000290015:G268D	G	+	2	0	WNT9B	42308812	0.995000	0.38212	0.683000	0.30040	0.246000	0.25737	6.599000	0.74127	2.492000	0.84095	0.561000	0.74099	GGC			0.642	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440433.1		NM_003396		A	44953813	G	A	44953813	3	1	96	1	0	0	0	0	1	0	0	0	17423	1203	42	2	817	2	WNT9B	17	44953813	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1726482	44953813	36241397	438	7223											
NGFR	4804	broad.mit.edu	37	chr17	47590258	47590258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgccctgcttgcaagctggGccacccaggacagcgccaca	8	4	12	17	2	0	0	0	0	0	0	0	1	0	1	4	2	4	3	4	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:47590258G>T	ENST00000172229.3	+	6	1296	c.1171G>T	c.(1171-1173)Gcc>Tcc	p.A391S	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A297S	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	391	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			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)					TGCAAGCTGGGCCACCCAGGA	0.692																																					p.A391S													.	NGFR	46		0			c.G1171T												26	28	28					17																	47590258		2202	4299	6501	SO:0001583	missense	4804	exon6			AGCTGGGCCACCC	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.1171G>T	17.37:g.47590258G>T	ENSP00000172229:p.Ala391Ser		93	0.0215053763	2		151	0.04	6	NM_002507	32	0	0	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	7.265	0.605885	0.14002	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.84944	-1.92;-1.92	4.85	3.87	0.44632	Death (3);DEATH-like (2);	0.798013	0.11068	N	0.603245	T	0.65123	0.2661	N	0.10707	0.03	0.31048	N	0.715558	B	0.06786	0.001	B	0.15484	0.013	T	0.60172	-0.7315	10	0.06099	T	0.92	-9.378	5.3954	0.16266	0.0965:0.0:0.5785:0.325	.	391	P08138	TNR16_HUMAN	S	391;297	ENSP00000172229:A391S;ENSP00000421731:A297S	ENSP00000172229:A391S	A	+	1	0	NGFR	44945257	1.000000	0.71417	0.997000	0.53966	0.621000	0.37620	1.928000	0.40104	2.233000	0.73108	0.561000	0.74099	GCC			0.692	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365150.1				T	47590258	G	T	47590258	3	4	96	1	0	0	0	0	1	0	0	0	10413	1203	42	2	1193	2	NGFR	17	47590258	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2636445	47590258	33604952	439	7224											
SLC35B1	10237	broad.mit.edu	37	chr17	47780277	47780277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgggattggcgaagaGgatcacagaggccaaaattg	13	7	15	6	1	1	3	1	1	0	2	1	6	1	5	1	4	0	1	1	4	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:47780277G>T	ENST00000240333.6	-	8	980	c.859C>A	c.(859-861)Ctc>Atc	p.L287I	SLC35B1_ENST00000415270.2_Missense_Mutation_p.L324I			P78383	S35B1_HUMAN	solute carrier family 35, member B1	287					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						TTGGCGAAGAGGATCACAGAG	0.488																																					p.L287I													.	SLC35B1	21		0			c.C859A												125	119	121					17																	47780277		2203	4300	6503	SO:0001583	missense	10237	exon8			CGAAGAGGATCAC	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.859C>A	17.37:g.47780277G>T	ENSP00000240333:p.Leu287Ile		154	0	0		234	0.02	4	NM_005827	813	0	0	B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371966	0.42003	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.71579	-0.58;-0.58;1.39	5.16	4.2	0.49525	.	0.065859	0.64402	D	0.000007	T	0.56337	0.1978	N	0.20530	0.585	0.80722	D	1	B;B	0.23937	0.094;0.094	B;B	0.28011	0.085;0.085	T	0.51849	-0.8653	10	0.27785	T	0.31	-10.5586	13.1127	0.59283	0.0771:0.0:0.9229:0.0	.	220;287	D3DTX1;P78383	.;S35B1_HUMAN	I	287;324;163;163;220	ENSP00000240333:L287I;ENSP00000409548:L324I;ENSP00000423323:L220I	ENSP00000240333:L287I	L	-	1	0	SLC35B1	45135276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.629000	0.46485	1.393000	0.46605	0.655000	0.94253	CTC			0.488	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365564.2		NM_005827		T	47780277	G	T	47780277	3	4	96	1	0	0	0	0	1	0	0	0	14598	1000	35	3	117	3	SLC35B1	17	47780277	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	190019	47780277	33414933	440	7225											
DLX3	1747	hgsc.bcm.edu	37	chr17	48069062	48069063	+	Frame_Shift_Ins	INS	-	-	G																															cggcgggggcagctgactgcINSgggcaggggccggagtggag																								rs373291908|rs138972403	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:48069062_48069063insG	ENST00000434704.2	-	3	907_908	c.682_683insC	c.(682-684)cgcfs	p.R228fs	DLX3_ENST00000512495.2_Frame_Shift_Ins_p.R108fs	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	228					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGCTGACTGCGGGCAGGGGCC	0.639																																					p.R228fs													.	DLX3	28		0			c.683_684insC																																									SO:0001589	frameshift_variant	1747	exon3			TGACTGCGGGCAG		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.683dupC	17.37:g.48069065_48069065dupG	ENSP00000389870:p.Arg228fs		77	0	0		127	0.06	8	NM_005220	1	0	0	B3KQL6	Frame_Shift_Ins	INS	ENST00000434704.2	37	CCDS11556.1																																																																																					0.639	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366307.1				G	48069063	-	G	48069062	7	5	96	1	0	1	1	0	0	0	0	0	4577	768	27	0	184	0	DLX3	17	48069062	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	288785	48069062	33126148	441	7226											
TOB1	10140	broad.mit.edu	37	chr17	48941031	48941031	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacatccattttcattattAtcatccacgtaaagcacctt	12	15	2	12	1	3	0	3	0	0	0	5	0	5	0	3	0	1	2	3	0	4	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:48941031A>G	ENST00000268957.3	-	3	776	c.348T>C	c.(346-348)gaT>gaC	p.D116D	TOB1_ENST00000499247.2_Silent_p.D116D|TOB1_ENST00000509385.1_5'UTR	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	116					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|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 signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TTTCATTATTATCATCCACGT	0.438											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D116D	NSCLC(144;643 1919 24513 29423 40686)												.	TOB1	40		0			c.T348C												122	114	117					17																	48941031		2203	4300	6503	SO:0001819	synonymous_variant	10140	exon2			ATTATTATCATCC	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.348T>C	17.37:g.48941031A>G			216	0	0	958	274	0.01	3	NM_005749	52	0	0	B2R9T0|D3DTY3|Q4KMQ0	Silent	SNP	ENST00000268957.3	37	CCDS11576.1																																																																																					0.438	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000368364.1				G	48941031	A	G	48941031	2	3	96	1	0	0	0	0	0	0	0	1	16370	446	16	4		4	TOB1	17	48941031	Silent	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10	871969	48941031	32254179	442	7227											
PPM1E	22843	hgsc.bcm.edu	37	chr17	56833454	56833454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcggcggcgagccggaGccggaacccgaacccgaacc	8	1	16	16	8	0	0	0	0	0	0	0	5	0	2	5	5	6	0	5	5	3	0	rs77856248		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:56833454G>A	ENST00000308249.2	+	1	225	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			Gcgagccggagccggaacccg	0.667																																					p.E32E													PPM1E,colon,carcinoma,0,1	PPM1E	0	1	0			c.G96A												14	20	18					17																	56833454		2185	4284	6469	SO:0001819	synonymous_variant	22843	exon1			GCCGGAGCCGGAA	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.96G>A	17.37:g.56833454G>A			122	0	0		212	0.07	15	NM_014906	0		0	Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	CCDS11613.1																																																																																					0.667	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445458.1		NM_014906		A	56833454	G	A	56833454	2	1	96	1	0	0	0	0	0	0	0	1	12358	962	34	2		2	PPM1E	17	56833454	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7892423	56833454	24361756	443	7228											
USP32	84669	broad.mit.edu	37	chr17	58286906	58286906	+	Splice_Site	DEL	T	T	-																															catattttgctatggtccacTataaatataagagaagtcac																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:58286906delT	ENST00000300896.4	-	22	2619		c.e22-2		USP32_ENST00000592339.1_Splice_Site	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TATGGTCCACTATAAATATAA	0.363																																					.													.	USP32	128		0			c.2425-2A>-												55	57	56					17																	58286906		2203	4300	6503	SO:0001630	splice_region_variant	84669	exon23			GTCCACTATAAAT	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2425-2A>-	17.37:g.58286906delT			416	0	0		584	0.01	7	NM_032582	1	0	0	Q7Z5T3|Q9BX85|Q9Y591	Splice_Site	DEL	ENST00000300896.4	37	CCDS32697.1																																																																																					0.363	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449235.2		NM_032582	Intron	-	58286906	T	-	58286906	8	5	96	1	0	1	0	1	0	0	1	0	17087	1536	53	0	2443	0	USP32	17	58286906	Splice_Site	DEL	T	TCGA-VF-A8A8-01A-11D-A435-10	1453452	58286906	22908304	444	7229											
CCDC46	201134	broad.mit.edu	37	chr17	64026113	64026113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtcagctgctggacaCgggcctccagttctttgatc	6	11	10	14	1	2	1	1	1	1	0	5	2	4	2	3	2	2	3	3	2	0	2	rs369403378		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:64026113C>T	ENST00000392769.2	-	13	1465	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	CEP112_ENST00000541355.1_Missense_Mutation_p.R51H|CEP112_ENST00000535342.2_Missense_Mutation_p.R416H|CEP112_ENST00000537949.1_Missense_Mutation_p.R374H	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	416					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTGCTGGACACGGGCCTCCAG	0.398																																					p.R416H													CEP112_ENST00000392769,NS,carcinoma,0,2	CEP112	192	2	0			c.G1247A							C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	87	82	83		1247,1247	5.1	1	17		83	0,8600		0,0,4300	no	missense,missense	CEP112	NM_001199165.1,NM_145036.3	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	416/956,416/956	64026113	2,13004	2203	4300	6503	SO:0001583	missense	201134	exon13			TGGACACGGGCCT	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1247G>A	17.37:g.64026113C>T	ENSP00000376522:p.Arg416His		107	0.0186915888	2		198	0.02	3	NM_001199165	4	0	0	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639772	0.67244	4.54E-4	0.0	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.60672	0.17;0.17;0.39;0.18	6.07	5.09	0.68999	.	0.057868	0.64402	D	0.000003	T	0.74168	0.3681	M	0.68952	2.095	0.37991	D	0.933924	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.966;0.966;0.966	T	0.79948	-0.1588	10	0.66056	D	0.02	-10.3758	16.6491	0.85184	0.1309:0.8691:0.0:0.0	.	374;374;416	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	H	416;416;51;374	ENSP00000442784:R416H;ENSP00000376522:R416H;ENSP00000443711:R51H;ENSP00000440775:R374H	ENSP00000376522:R416H	R	-	2	0	CEP112	61456575	1.000000	0.71417	0.986000	0.45419	0.927000	0.56198	5.615000	0.67702	1.526000	0.49068	0.655000	0.94253	CGT			0.398	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446582.1		NM_145036		T	64026113	C	T	64026113	3	4	96	1	0	0	0	0	1	0	0	0	2819	536	19	1	1846	1	CCDC46	17	64026113	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	5739207	64026113	17169097	445	7230											
ABCA5	23461	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	67251698	67251698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatacctggcctgaagttgGttcaatatcaccaaccagaa	13	10	7	11	0	3	2	3	1	0	1	3	2	3	2	4	2	2	2	4	2	6	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:67251698G>C	ENST00000392676.3	-	31	4118	c.4054C>G	c.(4054-4056)Cca>Gca	p.P1352A	ABCA5_ENST00000588877.1_Missense_Mutation_p.P1352A|ABCA5_ENST00000392677.2_Missense_Mutation_p.P1353A			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1352	ABC transporter 2. {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)	CCTGAAGTTGGTTCAATATCA	0.308																																					p.P1352A													.	ABCA5	162		0			c.C4054G												38	41	40					17																	67251698		2203	4295	6498	SO:0001583	missense	23461	exon30			AAGTTGGTTCAAT	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.4054C>G	17.37:g.67251698G>C	ENSP00000376443:p.Pro1352Ala		438	0	0		596	0.03	17	NM_018672	3	0	0	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113363	0.56398	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.94897	-3.55;-3.55	5.62	4.63	0.57726	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000005	D	0.91459	0.7304	L	0.42245	1.32	0.46044	D	0.998836	B	0.16603	0.018	B	0.19148	0.024	D	0.87783	0.2613	9	.	.	.	.	16.6941	0.85330	0.0:0.1297:0.8703:0.0	.	1352	Q8WWZ7	ABCA5_HUMAN	A	1353;1352	ENSP00000376444:P1353A;ENSP00000376443:P1352A	.	P	-	1	0	ABCA5	64763293	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	4.156000	0.58138	1.474000	0.48178	0.650000	0.86243	CCA			0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000450654.1		NM_018672		C	67251698	G	C	67251698	3	2	96	1	0	0	0	0	1	0	0	0	35	1261	44	5	910	5	ABCA5	17	67251698	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3225585	67251698	13943512	446	7231											
SPHK1	8877	broad.mit.edu	37	chr17	74382929	74382929	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcctgaccaactgcacGctattgctgtgccgccggct	6	9	10	16	3	0	1	0	1	0	0	1	2	1	1	5	1	4	4	5	1	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:74382929G>T	ENST00000545180.1	+	8	1226	c.417G>T	c.(415-417)acG>acT	p.T139T	SPHK1_ENST00000592299.1_Silent_p.T139T|SPHK1_ENST00000323374.4_Silent_p.T225T|SPHK1_ENST00000590959.1_Silent_p.T153T|SPHK1_ENST00000392496.3_Silent_p.T139T			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	139	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				'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)	p.T225T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CCAACTGCACGCTATTGCTGT	0.607																																					p.T225T	GBM(90;966 1307 27369 33775 44498)												SPHK1,NS,carcinoma,0,1	SPHK1	24	1	1	Substitution - coding silent(1)	lung(1)	c.G675T												78	78	78					17																	74382929		2203	4300	6503	SO:0001819	synonymous_variant	8877	exon6			CTGCACGCTATTG	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.417G>T	17.37:g.74382929G>T			71	0	0		123	0.02	3	NM_182965	36	0	0	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	ENST00000545180.1	37	CCDS45785.1																																																																																					0.607	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450113.1		NM_182965, NM_021972		T	74382929	G	T	74382929	2	4	96	1	0	0	0	0	0	0	0	1	15069	1074	38	1		1	SPHK1	17	74382929	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7131231	74382929	6812281	447	7232											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625146	74625146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcaaaatcccaccgaGgctcagatttgaagttggcg	10	11	9	11	2	2	2	2	1	0	1	4	3	4	2	3	2	0	2	3	2	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:74625146G>T	ENST00000156626.7	-	2	978	c.779C>A	c.(778-780)cCt>cAt	p.P260H	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	260					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						ATCCCACCGAGGCTCAGATTT	0.557																																					p.P260H													.	ST6GALNAC1	42		0			c.C779A												62	66	65					17																	74625146		2203	4300	6503	SO:0001583	missense	55808	exon2			CACCGAGGCTCAG	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.779C>A	17.37:g.74625146G>T	ENSP00000156626:p.Pro260His		205	0	0		275	0.01	4	NM_018414	2	0	0	Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910073	0.52439	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.55930	1.45;0.49	4.87	4.87	0.63330	.	0.138312	0.49305	D	0.000150	T	0.64394	0.2594	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67654	-0.5615	10	0.72032	D	0.01	-22.2042	16.5703	0.84609	0.0:0.0:1.0:0.0	.	260	Q9NSC7	SIA7A_HUMAN	H	260	ENSP00000156626:P260H;ENSP00000351991:P260H	ENSP00000156626:P260H	P	-	2	0	ST6GALNAC1	72136741	1.000000	0.71417	0.895000	0.35142	0.161000	0.22273	5.466000	0.66731	2.426000	0.82243	0.561000	0.74099	CCT			0.557	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450974.1		NM_018414		T	74625146	G	T	74625146	3	4	96	1	0	0	0	0	1	0	0	0	15246	1000	35	3	1055	3	ST6GALNAC1	17	74625146	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	242217	74625146	6570064	448	7233											
MGAT5B	146664	broad.mit.edu	37	chr17	74928843	74928843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtggtgtacggcaaggagGcgagcatctggaaggtgagc	9	6	18	8	3	1	1	0	1	1	0	1	4	1	3	1	6	3	3	1	6	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:74928843G>T	ENST00000569840.2	+	11	1982	c.1408G>T	c.(1408-1410)Gcg>Tcg	p.A470S	MGAT5B_ENST00000428789.2_Missense_Mutation_p.A481S|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A470S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	470					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						CGGCAAGGAGGCGAGCATCTG	0.667																																					p.A481S													.	MGAT5B	98		0			c.G1441T												77	64	69					17																	74928843		2203	4300	6503	SO:0001583	missense	146664	exon10			AAGGAGGCGAGCA	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.1408G>T	17.37:g.74928843G>T	ENSP00000456037:p.Ala470Ser		133	0	0		181	0.02	3	NM_198955	1	0	0	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237266	0.22711	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.44881	0.91;0.91	4.29	3.3	0.37823	.	0.065361	0.64402	D	0.000010	T	0.31389	0.0795	L	0.43152	1.355	0.58432	D	0.99999	B;B	0.32245	0.361;0.29	B;B	0.34652	0.187;0.082	T	0.04678	-1.0934	10	0.06625	T	0.88	-22.8197	11.2944	0.49269	0.0:0.1998:0.8002:0.0	.	481;470	Q3V5L5-2;Q3V5L5-5	.;.	S	470;481	ENSP00000301618:A470S;ENSP00000391227:A481S	ENSP00000301618:A470S	A	+	1	0	MGAT5B	72440438	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	5.198000	0.65147	0.750000	0.32877	0.462000	0.41574	GCG			0.667	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000460624.2		NM_144677		T	74928843	G	T	74928843	3	4	96	1	0	0	0	0	1	0	0	0	9565	1203	42	2	1551	2	MGAT5B	17	74928843	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	303697	74928843	6266367	449	7234											
B3GNTL1	146712	broad.mit.edu	37	chr17	80915311	80915311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttccagatggtgaaggccGcccagcggggcagggcctgc	6	5	17	13	3	0	2	0	1	0	1	1	2	1	2	4	5	2	2	4	5	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr17:80915311G>T	ENST00000320865.3	-	9	798	c.785C>A	c.(784-786)gCg>gAg	p.A262E	B3GNTL1_ENST00000571954.1_5'Flank|B3GNTL1_ENST00000576599.1_Missense_Mutation_p.A151E	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	262							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)			GGTGAAGGCCGCCCAGCGGGG	0.687																																					p.A262E													.	B3GNTL1	40		0			c.C785A												18	19	19					17																	80915311		2199	4298	6497	SO:0001583	missense	146712	exon9			AAGGCCGCCCAGC	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.785C>A	17.37:g.80915311G>T	ENSP00000319979:p.Ala262Glu		113	0	0		178	0.02	4	NM_001009905	4	0	0	Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	G	0.433	-0.902423	0.02453	.	.	ENSG00000175711	ENST00000320865	T	0.39997	1.05	4.4	3.39	0.38822	.	0.706819	0.14856	N	0.294399	T	0.21227	0.0511	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17379	-1.0371	9	.	.	.	-0.9404	11.2254	0.48880	0.0:0.0:0.808:0.192	.	262	Q67FW5	B3GNL_HUMAN	E	262	ENSP00000319979:A262E	.	A	-	2	0	B3GNTL1	78508600	0.979000	0.34478	0.149000	0.22428	0.509000	0.34042	3.618000	0.54188	0.903000	0.36546	0.591000	0.81541	GCG			0.687	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438949.1		NM_001009905		T	80915311	G	T	80915311	3	4	96	1	0	0	0	0	1	0	0	0	1265	1087	38	1	316	1	B3GNTL1	17	80915311	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5986468	80915311	279899	450	7235											
PTPRM	5797	broad.mit.edu	37	chr18	7774226	7774226	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcaattgggagcaagtGaacaccttgactaaaccgac	14	8	9	10	1	1	2	1	2	0	0	1	5	1	3	2	1	3	1	2	1	5	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:7774226G>T	ENST00000332175.8	+	2	1190	c.153G>T	c.(151-153)gtG>gtT	p.V51V	PTPRM_ENST00000400060.4_Silent_p.V51V|PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000580170.1_Silent_p.V51V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	51	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGAGCAAGTGAACACCTTGA	0.383																																					p.V51V													PTPRM,NS,carcinoma,+2,1	PTPRM	185	1	0			c.G153T												207	183	191					18																	7774226		2203	4300	6503	SO:0001819	synonymous_variant	5797	exon2			GCAAGTGAACACC	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.153G>T	18.37:g.7774226G>T			137	0	0		152	0.03	4	NM_001105244	2	0	0	A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	CCDS11840.1																																																																																					0.383	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000254456.1				T	7774226	G	T	7774226	2	4	96	1	0	0	0	0	0	0	0	1	12829	1277	45	3		3	PTPRM	18	7774226	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		7774226	70303022	451	7236											
CEP192	55125	broad.mit.edu	37	chr18	13048962	13048962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcttcagccattgcagaGgcatcagttaatactgatcc	11	12	8	10	0	2	2	2	1	0	1	3	2	3	2	2	1	4	4	2	1	2	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:13048962G>T	ENST00000325971.8	+	14	1977	c.384G>T	c.(382-384)gaG>gaT	p.E128D	CEP192_ENST00000430049.2_Missense_Mutation_p.E249D|CEP192_ENST00000506447.1_Missense_Mutation_p.E724D			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	128					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						CCATTGCAGAGGCATCAGTTA	0.413																																					p.E724D													.	CEP192	340		0			c.G2172T												82	80	81					18																	13048962		2203	4300	6503	SO:0001583	missense	55125	exon16			TGCAGAGGCATCA	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.384G>T	18.37:g.13048962G>T	ENSP00000317156:p.Glu128Asp		131	0.0076335878	1		139	0.02	3	NM_032142	2	0	0	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	G	0.015	-1.561673	0.00903	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.03920	3.76;3.92;3.9	5.14	-3.83	0.04269	.	1.116420	0.07031	N	0.828401	T	0.01222	0.0040	N	0.01352	-0.895	0.24587	N	0.993843	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.44436	-0.9328	10	0.05525	T	0.97	-1.8271	2.1044	0.03688	0.1008:0.1967:0.2063:0.4962	.	249;724;128	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	D	724;128;128;249	ENSP00000427550:E724D;ENSP00000317156:E128D;ENSP00000389190:E249D	ENSP00000317156:E128D	E	+	3	2	CEP192	13038962	0.982000	0.34865	0.110000	0.21437	0.197000	0.23852	0.046000	0.14035	-0.575000	0.05982	-0.885000	0.02943	GAG			0.413	CEP192-201	KNOWN	basic	protein_coding	protein_coding				NM_032142		T	13048962	G	T	13048962	3	4	96	1	0	0	0	0	1	0	0	0	3253	991	35	3	2230	3	CEP192	18	13048962	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5274736	13048962	65028286	452	7237											
SLC14A2	8170	broad.mit.edu	37	chr18	43248365	43248365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggggtgctggtggggctGctgatggccgtgttctcaga	5	11	18	7	1	1	2	1	1	1	1	2	2	1	2	1	6	2	4	1	6	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:43248365G>A	ENST00000255226.6	+	15	2775	c.1959G>A	c.(1957-1959)ctG>ctA	p.L653L	SLC14A2_ENST00000589658.1_Silent_p.L130L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.L653L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	653					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGTGGGGCTGCTGATGGCCG	0.577																																					p.L653L													SLC14A2,NS,carcinoma,+2,1	SLC14A2	121	1	0			c.G1959A												161	140	147					18																	43248365		2203	4300	6503	SO:0001819	synonymous_variant	8170	exon16			GGGGCTGCTGATG	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1959G>A	18.37:g.43248365G>A			135	0	0		143	0.03	4	NM_001242692	1	0	0	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																					0.577	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255858.1				A	43248365	G	A	43248365	2	1	96	1	0	0	0	0	0	0	0	1	14420	1306	46	2		2	SLC14A2	18	43248365	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	30199403	43248365	34828883	453	7238											
KIAA1632	57724	broad.mit.edu	37	chr18	43464694	43464694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgggagtgaagaaaggaGacagcagggagcagagcctg	14	4	17	6	0	0	4	0	1	0	3	0	7	0	6	1	3	3	2	1	3	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:43464694G>T	ENST00000282041.5	-	30	5226	c.5192C>A	c.(5191-5193)tCt>tAt	p.S1731Y	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1731					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						GAAGAAAGGAGACAGCAGGGA	0.418																																					p.S1731Y													.	EPG5	199		0			c.C5192A												109	110	110					18																	43464694		1905	4119	6024	SO:0001583	missense	57724	exon30			AAAGGAGACAGCA	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.5192C>A	18.37:g.43464694G>T	ENSP00000282041:p.Ser1731Tyr		109	0	0		102	0.04	4	NM_020964	1	0	0	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602626	0.66445	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.12147	2.71	5.83	5.83	0.93111	.	.	.	.	.	T	0.33904	0.0879	L	0.53249	1.67	0.58432	D	0.999998	D	0.67145	0.996	D	0.63192	0.912	T	0.00722	-1.1594	9	0.72032	D	0.01	-8.1941	20.1338	0.98010	0.0:0.0:1.0:0.0	.	1731	Q9HCE0	EPG5_HUMAN	Y	1731;606	ENSP00000282041:S1731Y	ENSP00000282041:S1731Y	S	-	2	0	EPG5	41718692	1.000000	0.71417	0.781000	0.31783	0.166000	0.22503	9.824000	0.99380	2.770000	0.95276	0.655000	0.94253	TCT			0.418	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445081.1		NM_020964		T	43464694	G	T	43464694	3	4	96	1	0	0	0	0	1	0	0	0	8264	942	33	3	2607	3	KIAA1632	18	43464694	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	216329	43464694	34612554	454	7239											
KIAA1632	57724	broad.mit.edu	37	chr18	43519645	43519645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtttctccatagagtaggGctgttgggccaatcctgagc	8	12	12	9	0	1	2	0	1	1	1	3	2	2	2	3	2	1	4	3	2	4	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:43519645G>T	ENST00000282041.5	-	10	2054	c.2020C>A	c.(2020-2022)Ccc>Acc	p.P674T		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	674					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						ATAGAGTAGGGCTGTTGGGCC	0.433																																					p.P674T													EPG5,NS,carcinoma,+2,1	EPG5	199	1	0			c.C2020A												101	93	96					18																	43519645		1892	4113	6005	SO:0001583	missense	57724	exon10			AGTAGGGCTGTTG	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.2020C>A	18.37:g.43519645G>T	ENSP00000282041:p.Pro674Thr		282	0	0		269	0.03	7	NM_020964	2	0	0	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	7.037	0.561837	0.13498	.	.	ENSG00000152223	ENST00000282041	T	0.11712	2.75	5.4	5.4	0.78164	.	0.059168	0.64402	D	0.000002	T	0.12646	0.0307	L	0.43152	1.355	0.34913	D	0.747681	B;B	0.33940	0.433;0.264	B;B	0.30029	0.11;0.033	T	0.09751	-1.0660	10	0.52906	T	0.07	-14.9273	19.1711	0.93578	0.0:0.0:1.0:0.0	.	674;674	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	T	674	ENSP00000282041:P674T	ENSP00000282041:P674T	P	-	1	0	EPG5	41773643	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.732000	0.62029	2.518000	0.84900	0.462000	0.41574	CCC			0.433	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445081.1		NM_020964		T	43519645	G	T	43519645	3	4	96	1	0	0	0	0	1	0	0	0	8264	1203	42	2	5859	2	KIAA1632	18	43519645	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	54951	43519645	34557603	455	7240											
ATP8B1	5205	broad.mit.edu	37	chr18	55355660	55355660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggttctagcttttgCgggtgtgtccttctcagcat	3	17	13	8	1	2	0	1	0	2	0	4	0	3	0	1	3	3	3	1	3	1	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr18:55355660C>T	ENST00000283684.4	-	12	1299	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A434T|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	434					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A434S(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTAGCTTTTGCGGGTGTGTCC	0.443																																					p.A434T													ATP8B1,NS,carcinoma,0,2	ATP8B1	126	2	1	Substitution - Missense(1)	lung(1)	c.G1300A												272	247	255					18																	55355660		2203	4300	6503	SO:0001583	missense	5205	exon13			CTTTTGCGGGTGT	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1300G>A	18.37:g.55355660C>T	ENSP00000283684:p.Ala434Thr		208	0.0048076923	1		215	0.02	5	NM_005603	2	0	0	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998116	0.74818	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.90563	-2.69;-2.69	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95430	0.8515	10	0.87932	D	0	.	19.3348	0.94312	0.0:1.0:0.0:0.0	.	434	O43520	AT8B1_HUMAN	T	434	ENSP00000283684:A434T;ENSP00000445359:A434T	ENSP00000283684:A434T	A	-	1	0	ATP8B1	53506658	1.000000	0.71417	0.322000	0.25334	0.351000	0.29236	5.777000	0.68931	2.660000	0.90430	0.655000	0.94253	GCA			0.443	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256097.1		NM_005603		T	55355660	C	T	55355660	3	4	96	1	0	0	0	0	1	0	0	0	1194	768	27	1	2519	1	ATP8B1	18	55355660	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	11836015	55355660	22721588	456	7241											
KIAA1543	57662	mdanderson.org	37	chr19	7680360	7680360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccgcagtcccgatggCgactccagcccctgctgccc	4	8	11	18	3	0	0	0	0	0	0	3	2	3	0	6	1	3	2	6	1	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:7680360C>T	ENST00000160298.4	+	13	2968	c.2867C>T	c.(2866-2868)gCg>gTg	p.A956V	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.A983V	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	956					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GTCCCGATGGCGACTCCAGCC	0.716																																					p.A983V													.	.			0			c.C2948T												3	5	4					19																	7680360		1711	3554	5265	SO:0001583	missense	57662	exon15			CGATGGCGACTCC	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2867C>T	19.37:g.7680360C>T	ENSP00000160298:p.Ala956Val		16	0	0		30	0.1	3	NM_001080429	24	0	0	Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	C	9.147	1.015324	0.19355	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.16897	2.31;2.31	2.83	1.75	0.24633	.	.	.	.	.	T	0.13329	0.0323	L	0.40543	1.245	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.26643	-1.0097	9	0.31617	T	0.26	-1.1938	7.9999	0.30291	0.0:0.8626:0.0:0.1374	.	967;956;983	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	V	983;956	ENSP00000416797:A983V;ENSP00000160298:A956V	ENSP00000160298:A956V	A	+	2	0	KIAA1543	7586360	.	.	0.004000	0.12327	0.035000	0.12851	.	.	0.473000	0.27368	0.305000	0.20034	GCG			0.716	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459300.1		XM_048362		T	7680360	C	T	7680360	3	4	96	1	0	0	0	0	1	0	0	0	8258	768	27	1	3006	1	KIAA1543	19	7680360	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10		7680360	51448623	457	7242											
MYO1F	4542	broad.mit.edu	37	chr19	8609310	8609310	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggcgtgcatggtggcGcacacgtcgtccaagacgct	6	7	14	14	6	0	1	0	0	0	1	2	1	1	1	2	3	1	3	2	3	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:8609310G>A	ENST00000338257.8	-	14	1662	c.1395C>T	c.(1393-1395)tgC>tgT	p.C465C	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	465	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCATGGTGGCGCACACGTCGT	0.682																																					p.C465C													.	MYO1F	128		0			c.C1395T												20	25	23					19																	8609310		2091	4221	6312	SO:0001819	synonymous_variant	4542	exon14			GGTGGCGCACACG	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1395C>T	19.37:g.8609310G>A			56	0	0		63	0.05	3	NM_012335	5	0	0	Q8WWN7	Silent	SNP	ENST00000338257.8	37	CCDS42494.1																																																																																					0.682	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342716.2				A	8609310	G	A	8609310	2	1	96	1	0	0	0	0	0	0	0	1	10089	1079	38	1		1	MYO1F	19	8609310	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	928950	8609310	50519673	458	7243											
OR2Z1	284383	broad.mit.edu	37	chr19	8841539	8841539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcttctcttcttgatccGtgtggactcccggctccata	4	15	8	14	3	3	1	0	1	3	0	7	2	6	2	3	2	0	2	3	2	1	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:8841539G>A	ENST00000324060.2	+	1	224	c.149G>A	c.(148-150)cGt>cAt	p.R50H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	50						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						TTCTTGATCCGTGTGGACTCC	0.547																																					p.R50H													OR2Z1,NS,carcinoma,0,1	OR2Z1	53	1	0			c.G149A												161	141	148					19																	8841539		2203	4300	6503	SO:0001583	missense	284383	exon1			TGATCCGTGTGGA	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.149G>A	19.37:g.8841539G>A	ENSP00000316284:p.Arg50His		187	0	0		199	0.02	3	NM_001004699	0		0	B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182007	0.06340	.	.	ENSG00000181733	ENST00000324060	T	0.01076	5.37	4.23	-6.56	0.01848	GPCR, rhodopsin-like superfamily (1);	2.774980	0.00817	N	0.001550	T	0.00784	0.0026	N	0.10972	0.075	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48614	-0.9020	10	0.06625	T	0.88	.	10.991	0.47549	0.5863:0.0:0.4137:0.0	.	50	Q8NG97	OR2Z1_HUMAN	H	50	ENSP00000316284:R50H	ENSP00000316284:R50H	R	+	2	0	OR2Z1	8702539	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.778000	0.04664	-1.410000	0.02035	-1.150000	0.01838	CGT			0.547	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459954.1				A	8841539	G	A	8841539	3	1	96	1	0	0	0	0	1	0	0	0	11053	1145	40	1	151	1	OR2Z1	19	8841539	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	232229	8841539	50287444	459	7244											
MAST1	22983	broad.mit.edu	37	chr19	12969240	12969240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgataccatcaagctcataaGcaacggtgcctacgggtgag	12	7	11	11	3	2	1	2	1	0	0	2	2	2	1	2	2	6	2	2	2	5	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:12969240G>T	ENST00000251472.4	+	11	1181	c.1142G>T	c.(1141-1143)aGc>aTc	p.S381I	MAST1_ENST00000591495.1_Missense_Mutation_p.S377I	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						AAGCTCATAAGCAACGGTGCC	0.642																																					p.S381I													.	MAST1	214		0			c.G1142T												89	95	93					19																	12969240		2203	4300	6503	SO:0001583	missense	22983	exon11			TCATAAGCAACGG	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.1142G>T	19.37:g.12969240G>T	ENSP00000251472:p.Ser381Ile		156	0	0		181	0.02	3	NM_014975	1	0	0		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561173	0.86335	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.25085	1.82	4.75	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094954	0.64402	D	0.000001	T	0.47210	0.1433	L	0.58101	1.795	0.80722	D	1	D;P	0.76494	0.999;0.899	D;P	0.73380	0.98;0.815	T	0.48127	-0.9062	10	0.87932	D	0	-35.8268	15.6086	0.76696	0.0:0.0:1.0:0.0	.	381;381	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	I	381	ENSP00000251472:S381I	ENSP00000251472:S381I	S	+	2	0	MAST1	12830240	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.855000	0.99526	2.363000	0.80096	0.561000	0.74099	AGC			0.642	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451733.2		NM_014975		T	12969240	G	T	12969240	3	4	96	1	0	0	0	0	1	0	0	0	9340	971	34	2	1184	2	MAST1	19	12969240	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4127701	12969240	46159743	460	7245											
ATP13A1	57130	mdanderson.org	37	chr19	19767903	19767903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgccaccagcatggatagcGtaaagacgctgtagtaccag	13	6	11	11	3	0	1	0	0	0	1	0	2	0	2	3	1	3	5	3	1	5	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:19767903G>T	ENST00000357324.6	-	5	832	c.806C>A	c.(805-807)aCg>aAg	p.T269K	ATP13A1_ENST00000496082.1_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.T151K	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	269						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CATGGATAGCGTAAAGACGCT	0.587																																					p.T269K	Esophageal Squamous(142;920 1789 9047 14684 24777)												.	.			0			c.C806A												48	43	45					19																	19767903		2203	4300	6503	SO:0001583	missense	57130	exon5			GATAGCGTAAAGA	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.806C>A	19.37:g.19767903G>T	ENSP00000349877:p.Thr269Lys		63	0	0		49	0.06	3	NM_020410	13	0	0	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595810	0.86953	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.88741	-2.42;-2.42	4.89	4.89	0.63831	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.978	D	0.97005	0.9732	10	0.72032	D	0.01	-20.358	15.5416	0.76052	0.0:0.0:1.0:0.0	.	269;151	Q9HD20;Q9HD20-2	AT131_HUMAN;.	K	151;269	ENSP00000291503:T151K;ENSP00000349877:T269K	ENSP00000291503:T151K	T	-	2	0	ATP13A1	19628903	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	9.386000	0.97228	2.278000	0.76064	0.467000	0.42956	ACG			0.587	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329005.1		NM_020410		T	19767903	G	T	19767903	3	4	96	1	0	0	0	0	1	0	0	0	1123	1145	40	1	2896	1	ATP13A1	19	19767903	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	6798663	19767903	39361080	461	7246											
ZNF208	7757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	22156903	22156903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctttacatttgtagggCttctctccagcatgaattgc	8	16	7	10	0	2	1	0	1	2	0	4	1	3	1	1	1	3	3	1	1	3	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:22156903C>T	ENST00000397126.4	-	4	1081	c.933G>A	c.(931-933)aaG>aaA	p.K311K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGCTTCTCTCCAG	0.413																																					p.K311K													.	.			0			c.G933A												59	63	61					19																	22156903		2112	4259	6371	SO:0001819	synonymous_variant	7757	exon4			GTAGGGCTTCTCT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.933G>A	19.37:g.22156903C>T			95	0	0		115	0.5	58	NM_007153	1	0	0		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																					0.413	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464302.1		NM_007153		T	22156903	C	T	22156903	2	4	96	1	0	0	0	0	0	0	0	1	17789	796	28	2		2	ZNF208	19	22156903	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	2389000	22156903	36972080	462	7247											
CCNE1	898	broad.mit.edu	37	chr19	30308069	30308069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacaataatgcagtctgtgCagacccctgctccctgatcc	9	9	9	14	0	1	2	0	1	1	1	3	3	3	3	4	1	3	3	4	1	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:30308069C>T	ENST00000262643.3	+	5	485	c.206C>T	c.(205-207)gCa>gTa	p.A69V	CCNE1_ENST00000444983.2_Missense_Mutation_p.A54V|CCNE1_ENST00000357943.5_Missense_Mutation_p.A69V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	69					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GCAGTCTGTGCAGACCCCTGC	0.458			A		serous ovarian																																p.A69V				Dom	yes		19	19q12	898	cyclin E1		E	.	CCNE1	49		0			c.C206T												97	90	92					19																	30308069		2203	4300	6503	SO:0001583	missense	898	exon5			TCTGTGCAGACCC	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"cyclin Es", "cyclin Et"	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.206C>T	19.37:g.30308069C>T	ENSP00000262643:p.Ala69Val		123	0.0081300813	1		112	0.03	3	NM_001238	44	0	0	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366951	0.24771	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.42900	1.96;0.96;1.96	5.33	-2.78	0.05859	.	0.664870	0.16230	N	0.223657	T	0.15219	0.0367	N	0.03608	-0.345	0.09310	N	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.17653	-1.0362	10	0.29301	T	0.29	.	6.8189	0.23847	0.396:0.4193:0.0:0.1847	.	69	P24864	CCNE1_HUMAN	V	69;69;54	ENSP00000262643:A69V;ENSP00000350625:A69V;ENSP00000410179:A54V	ENSP00000262643:A69V	A	+	2	0	CCNE1	34999909	0.991000	0.36638	0.773000	0.31616	0.507000	0.33981	0.110000	0.15437	-0.228000	0.09869	0.655000	0.94253	GCA			0.458	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438138.1		NM_001238		T	30308069	C	T	30308069	3	4	96	1	0	0	0	0	1	0	0	0	2922	710	25	2	220	2	CCNE1	19	30308069	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	8151166	30308069	28820914	463	7248											
ACTN4	81	mdanderson.org	37	chr19	39191305	39191305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcgagaacattgatgaGgacttccgagacgggctcaa	13	7	12	9	3	1	5	1	2	0	3	3	8	2	6	1	2	1	1	1	2	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:39191305G>T	ENST00000252699.2	+	2	304	c.228G>T	c.(226-228)gaG>gaT	p.E76D	ACTN4_ENST00000424234.2_Missense_Mutation_p.E76D|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	76	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACATTGATGAGGACTTCCGAG	0.602																																					p.E76D	Colon(168;199 1940 10254 46213 46384)												.	.			0			c.G228T												142	112	122					19																	39191305		2203	4300	6503	SO:0001583	missense	81	exon2			TGATGAGGACTTC	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.228G>T	19.37:g.39191305G>T	ENSP00000252699:p.Glu76Asp		49	0	0		52	0.06	3	NM_004924	183	0	0	A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009994	0.54361	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000424234	D;D	0.95238	-3.65;-3.65	4.35	4.35	0.52113	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	L	0.52364	1.645	0.30149	N	0.803279	B;B	0.02656	0.0;0.0	B;B	0.15870	0.014;0.006	D	0.84662	0.0707	10	0.46703	T	0.11	.	6.7197	0.23323	0.1947:0.0:0.8053:0.0	.	76;76	E7EV83;O43707	.;ACTN4_HUMAN	D	76	ENSP00000252699:E76D;ENSP00000411187:E76D	ENSP00000252699:E76D	E	+	3	2	ACTN4	43883145	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	0.994000	0.29693	2.426000	0.82243	0.561000	0.74099	GAG			0.602	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268091.1				T	39191305	G	T	39191305	3	4	96	1	0	0	0	0	1	0	0	0	207	991	35	3	234	3	ACTN4	19	39191305	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8883236	39191305	19937678	464	7249											
CAPN12	147968	broad.mit.edu	37	chr19	39228218	39228219	+	Frame_Shift_Ins	INS	-	-	G																															ggctggggcccagcacctccINSgggctcagcgagcagatctg																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:39228218_39228219insG	ENST00000328867.4	-	9	1333_1334	c.1025_1026insC	c.(1024-1026)ccgfs	p.P342fs	CAPN12_ENST00000601953.1_Frame_Shift_Ins_p.P193fs|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	342	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCAGCACCTCCGGGCTCAGCGA	0.698																																					p.P342fs													.	CAPN12	43		0			c.1026_1027insC																																									SO:0001589	frameshift_variant	147968	exon9			CACCTCCGGGCTC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1026dupC	19.37:g.39228221_39228221dupG	ENSP00000331636:p.Pro342fs		131	0	0		161	0.04	6	NM_144691	4	0	0		Frame_Shift_Ins	INS	ENST00000328867.4	37	CCDS12519.1																																																																																					0.698	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462151.1				G	39228219	-	G	39228218	7	5	96	1	0	1	1	0	0	0	0	0	2627	639	23	0	1185	0	CAPN12	19	39228218	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	36913	39228218	19900765	465	7250											
SUPT5H	6829	broad.mit.edu	37	chr19	39965024	39965024	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctaccaccctacaccGtcgcccatggcctatcaggt	8	7	8	18	2	1	0	1	0	0	0	2	0	1	0	6	2	3	1	6	2	3	3	rs376597898		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:39965024G>A	ENST00000599117.1	+	28	3169	c.2802G>A	c.(2800-2802)ccG>ccA	p.P934P	SUPT5H_ENST00000432763.2_Silent_p.P934P|SUPT5H_ENST00000359191.6_Silent_p.P930P|SUPT5H_ENST00000598725.1_Silent_p.P934P|SUPT5H_ENST00000402194.2_Silent_p.P930P			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	934	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCCTACACCGTCGCCCATGG	0.632											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P934P													.	SUPT5H	119		0			c.G2802A							G	,,,	1,4405	2.1+/-5.4	0,1,2202	87	75	79		2802,2802,2790,2802	-1.8	0.2	19		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SUPT5H	NM_001111020.2,NM_001130824.1,NM_001130825.1,NM_003169.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	934/1088,934/1088,930/1084,934/1088	39965024	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6829	exon26			TACACCGTCGCCC	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2802G>A	19.37:g.39965024G>A			213	0	0	889	244	0.02	6	NM_003169	491	0	0	O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	CCDS12536.1																																																																																					0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000464918.1		NM_003169		A	39965024	G	A	39965024	2	1	96	1	0	0	0	0	0	0	0	1	15422	1132	40	1		1	SUPT5H	19	39965024	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	736806	39965024	19163959	466	7251											
PLA2G4C	8605	broad.mit.edu	37	chr19	48607859	48607859	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaccaagtggatccagaGacccctgcgaggtacgtgac	10	7	12	12	2	0	2	0	1	0	1	1	5	1	3	4	2	3	2	4	2	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:48607859G>T	ENST00000599921.1	-	4	600	c.243C>A	c.(241-243)gtC>gtA	p.V81V	PLA2G4C_ENST00000413144.2_Silent_p.V81V|PLA2G4C_ENST00000354276.3_Silent_p.V81V|PLA2G4C_ENST00000599111.1_Silent_p.V91V			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	81	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGGATCCAGAGACCCCTGCGA	0.502																																					p.V91V													.	PLA2G4C	76		0			c.C273A												133	118	123					19																	48607859		2203	4300	6503	SO:0001819	synonymous_variant	8605	exon4			TCCAGAGACCCCT	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.243C>A	19.37:g.48607859G>T			121	0.0082644628	1		131	0.04	5	NM_001159322	1	0	0	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																					0.502	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000465551.1				T	48607859	G	T	48607859	2	4	96	1	0	0	0	0	0	0	0	1	12020	929	33	3		3	PLA2G4C	19	48607859	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	8642835	48607859	10521124	467	7252											
NTF4	4909	broad.mit.edu	37	chr19	49564741	49564741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcacataggactgcttggCcttgcactcagatacccagt	9	9	9	14	1	1	1	1	0	0	1	1	2	1	2	3	2	3	3	3	2	2	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:49564741C>T	ENST00000593537.1	-	1	513	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	CGB7_ENST00000356213.4_5'Flank|NTF4_ENST00000594938.1_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.A172T|NTF4_ENST00000451356.2_Intron|CTB-60B18.18_ENST00000599209.1_lincRNA|CTB-60B18.12_ENST00000597865.1_RNA|CGB7_ENST00000597853.1_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	172					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		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;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GACTGCTTGGCCTTGCACTCA	0.637																																					p.A172T													.	NTF4	10		0			c.G514A												50	44	46					19																	49564741		2203	4300	6503	SO:0001583	missense	4909	exon2			GCTTGGCCTTGCA		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"Endogenous ligands"	8024	protein-coding gene	gene with protein product	"neurotrophic factor 4"	162662	"neurotrophin 5 (neurotrophin 4/5)"	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.514G>A	19.37:g.49564741C>T	ENSP00000469455:p.Ala172Thr		228	0	0		238	0.03	7	NM_006179	1	0	0	Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	C	1.175	-0.639886	0.03557	.	.	ENSG00000167744	ENST00000301411	T	0.66995	-0.24	3.27	3.27	0.37495	Nerve growth factor-related (5);	0.167912	0.36002	N	0.002844	T	0.31513	0.0799	N	0.01631	-0.79	0.41446	D	0.987952	P	0.34639	0.461	B	0.28849	0.095	T	0.51188	-0.8737	10	0.02654	T	1	-9.5126	14.4638	0.67470	0.0:1.0:0.0:0.0	.	172	P34130	NTF4_HUMAN	T	172	ENSP00000301411:A172T	ENSP00000301411:A172T	A	-	1	0	NTF4	54256553	0.001000	0.12720	1.000000	0.80357	0.538000	0.34931	-0.064000	0.11636	2.150000	0.67090	0.313000	0.20887	GCC			0.637	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466258.1		NM_006179		T	49564741	C	T	49564741	3	4	96	1	0	0	0	0	1	0	0	0	10714	739	26	2	122	2	NTF4	19	49564741	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	956882	49564741	9564242	468	7253											
TSKS	60385	broad.mit.edu	37	chr19	50251405	50251405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccttctctccagattctcGctcagcacagaacactcgct	8	10	6	17	3	3	2	1	0	2	2	7	2	4	2	2	0	2	3	2	0	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:50251405G>A	ENST00000246801.3	-	4	598	c.516C>T	c.(514-516)agC>agT	p.S172S	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	172					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGATTCTCGCTCAGCACAG	0.572																																					p.S172S													.	TSKS	97		0			c.C516T												153	129	137					19																	50251405		2203	4300	6503	SO:0001819	synonymous_variant	60385	exon4			ATTCTCGCTCAGC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.516C>T	19.37:g.50251405G>A			162	0	0		162	0.02	4	NM_021733	1	0	0	Q8WXJ0	Silent	SNP	ENST00000246801.3	37	CCDS12780.1																																																																																					0.572	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000465795.1		NM_021733		A	50251405	G	A	50251405	2	1	96	1	0	0	0	0	0	0	0	1	16650	1078	38	1		1	TSKS	19	50251405	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	686664	50251405	8877578	469	7254											
ZNF845	91664	hgsc.bcm.edu	37	chr19	53855197	53855197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccttcagtcagatGtcatcccttgtataccatcg	10	11	8	12	1	3	2	3	0	0	2	5	2	4	2	3	1	1	2	3	1	3	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:53855197G>A	ENST00000595091.1	+	5	1488	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	ZNF845_ENST00000458035.1_Missense_Mutation_p.M423I			Q96IR2	ZN845_HUMAN	zinc finger protein 845	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGATGTCATCCCTTG	0.413																																					p.M423I													ZNF845,bladder,carcinoma,+1,3	ZNF845	1	3	0			c.G1269A												45	41	42					19																	53855197		692	1591	2283	SO:0001583	missense	91664	exon4			TCAGATGTCATCC	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1269G>A	19.37:g.53855197G>A	ENSP00000470005:p.Met423Ile		145	0.0068965517	1		119	0.04	5	NM_138374	3	0	0		Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	0.459	-0.889779	0.02511	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.34275	1.37	1.9	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.05487	-0.04	0.09310	N	1	B	0.26744	0.158	B	0.17098	0.017	T	0.08249	-1.0731	9	0.34782	T	0.22	.	2.3006	0.04161	0.1137:0.3445:0.3108:0.231	.	423	Q96IR2	ZN845_HUMAN	I	423	ENSP00000388311:M423I	ENSP00000412086:M423I	M	+	3	0	ZNF845	58547009	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.502000	0.00035	-2.361000	0.00609	-0.718000	0.03613	ATG			0.413	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464359.1		XM_039908		A	53855197	G	A	53855197	3	1	96	1	0	0	0	0	1	0	0	0	18214	1377	48	3	1279	3	ZNF845	19	53855197	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3603792	53855197	5273786	470	7255											
ZNF813	126017	broad.mit.edu	37	chr19	53995075	53995076	+	Frame_Shift_Ins	INS	-	-	G																															aagtgtaatgaatgtggcaaINSggtttttaatcgaaaaacac																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:53995075_53995076insG	ENST00000396403.4	+	4	1717_1718	c.1589_1590insG	c.(1588-1593)aaggttfs	p.V531fs	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	531					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(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAATGTGGCAAGGTTTTTAATC	0.361																																					p.K530fs													.	ZNF813	81		0			c.1589_1590insG																																									SO:0001589	frameshift_variant	126017	exon4			GTGGCAAGGTTTT	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1591dupG	19.37:g.53995077_53995077dupG	ENSP00000379684:p.Val531fs		219	0	0		221	0.02	4	NM_001004301	4	0	0		Frame_Shift_Ins	INS	ENST00000396403.4	37	CCDS46172.1																																																																																					0.361	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350638.1		NM_001004301		G	53995076	-	G	53995075	7	5	96	1	0	1	1	0	0	0	0	0	18198	72	3	0	1599	0	ZNF813	19	53995075	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	139878	53995075	5133908	471	7256											
ZNF814	730051	broad.mit.edu	37	chr19	58385702	58385704	+	In_Frame_Del	DEL	ATA	ATA	-																															ttcccacattctccacattcAtaatgttttttttcagtgtg																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	ATA	ATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr19:58385702_58385704delATA	ENST00000435989.2	-	3	1288_1290	c.1054_1056delTAT	c.(1054-1056)tatdel	p.Y352del	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	352					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CTCCACATTCATAATGTTTTTTT	0.374																																					p.352_352del													.	ZNF814	93		0			c.1054_1056del																																									SO:0001651	inframe_deletion	730051	exon3			ACATTCATAATGT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1054_1056delTAT	19.37:g.58385702_58385704delATA	ENSP00000410545:p.Tyr352del		372	0	0		379	0.02	7	NM_001144989	13	0	0	A6NF35	In_Frame_Del	DEL	ENST00000435989.2	37	CCDS46212.1																																																																																					0.374	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708		-	58385704	ATA	-	58385702	7	5	96	1	0	1	0	1	0	0	0	0	18199	224	8	0	1515	0	ZNF814	19	58385702	In_Frame_Del	DEL	ATA	TCGA-VF-A8A8-01A-11D-A435-10	4390627	58385702	743281	472	7257											
TRMT6	51605	broad.mit.edu	37	chr20	5924639	5924639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatacataattgaaagaataCgggtggatggcttcacaaca	17	9	9	6	1	1	2	1	1	0	1	1	3	1	3	0	3	3	1	0	3	7	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:5924639C>T	ENST00000203001.2	-	5	627	c.497G>A	c.(496-498)cGt>cAt	p.R166H	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	166					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						TGAAAGAATACGGGTGGATGG	0.313																																					p.R166H													.	TRMT6	28		0			c.G497A												50	52	51					20																	5924639		2203	4298	6501	SO:0001583	missense	51605	exon5			AGAATACGGGTGG	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.497G>A	20.37:g.5924639C>T	ENSP00000203001:p.Arg166His		245	0.012244898	3		288	0.02	5	NM_015939	30	0	0	B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864771	0.91511	.	.	ENSG00000089195	ENST00000203001	T	0.27256	1.68	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48068	-0.9067	10	0.27785	T	0.31	-10.3553	19.9664	0.97271	0.0:1.0:0.0:0.0	.	166	Q9UJA5	TRM6_HUMAN	H	166	ENSP00000203001:R166H	ENSP00000203001:R166H	R	-	2	0	TRMT6	5872639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.283000	0.78640	2.724000	0.93272	0.650000	0.86243	CGT			0.313	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077889.2				T	5924639	C	T	5924639	3	4	96	1	0	0	0	0	1	0	0	0	16592	536	19	1	1024	1	TRMT6	20	5924639	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10		5924639	57100881	473	7258											
KIF3B	9371	broad.mit.edu	37	chr20	30898575	30898575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactctgaccactctgcGatatgccaaccgtgccaaaa	13	7	8	13	2	2	2	0	1	2	1	2	4	2	2	4	0	4	0	4	0	4	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:30898575G>T	ENST00000375712.3	+	2	1162	c.995G>T	c.(994-996)cGa>cTa	p.R332L	KIF3B_ENST00000418717.2_Missense_Mutation_p.R20L	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	332	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCACTCTGCGATATGCCAAC	0.527																																					p.R332L													.	KIF3B	75		0			c.G995T												79	65	70					20																	30898575		2203	4300	6503	SO:0001583	missense	9371	exon2			CTCTGCGATATGC	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.995G>T	20.37:g.30898575G>T	ENSP00000364864:p.Arg332Leu		186	0.0053763441	1		163	0.02	3	NM_004798	4	0	0	B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338353	0.81911	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.77098	-1.07;-0.84	4.47	4.47	0.54385	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.82716	2.605	0.80722	D	1	D;P;D	0.89917	0.983;0.691;1.0	D;B;D	0.87578	0.933;0.417;0.998	D	0.90585	0.4532	10	0.66056	D	0.02	.	17.325	0.87244	0.0:0.0:1.0:0.0	.	20;332;332	B4DSR5;B4DYF2;O15066	.;.;KIF3B_HUMAN	L	332;20	ENSP00000364864:R332L;ENSP00000406287:R20L	ENSP00000364864:R332L	R	+	2	0	KIF3B	30362236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.322000	0.78497	0.462000	0.41574	CGA			0.527	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078619.1		NM_004798		T	30898575	G	T	30898575	3	4	96	1	0	0	0	0	1	0	0	0	8316	1058	37	1	997	1	KIF3B	20	30898575	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	24973936	30898575	32126945	474	7259											
KIAA0406	9675	broad.mit.edu	37	chr20	36642033	36642033	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctctcttttgggacctggGgtcttcagggtaaatcgcag	6	12	13	10	2	3	0	1	0	2	0	5	1	3	1	1	4	0	3	1	4	2	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:36642033G>T	ENST00000373448.2	-	3	424	c.186C>A	c.(184-186)acC>acA	p.T62T	TTI1_ENST00000449821.1_Silent_p.T62T|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.T62T	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	62					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						TGGGACCTGGGGTCTTCAGGG	0.493																																					p.T62T													TTI1,NS,carcinoma,-2,1	TTI1	104	1	0			c.C186A												121	104	110					20																	36642033		2203	4300	6503	SO:0001819	synonymous_variant	9675	exon3			ACCTGGGGTCTTC	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.186C>A	20.37:g.36642033G>T			175	0	0		175	0.02	4	NM_014657	5	0	0	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	CCDS13300.1																																																																																					0.493	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079138.2		NM_014657		T	36642033	G	T	36642033	2	4	96	1	0	0	0	0	0	0	0	1	8188	1219	43	3		3	KIAA0406	20	36642033	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5743458	36642033	26383487	475	7260											
PTPRT	11122	broad.mit.edu	37	chr20	40827906	40827906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgacgtcctgagaactaGaagagaagccttcatcattg	12	10	10	9	2	2	4	2	2	0	3	3	6	3	4	2	0	2	1	2	0	4	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:40827906G>T	ENST00000373187.1	-	16	2464	c.2465C>A	c.(2464-2466)tCt>tAt	p.S822Y	PTPRT_ENST00000356100.2_Missense_Mutation_p.S831Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.S812Y|PTPRT_ENST00000373198.4_Missense_Mutation_p.S841Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.S812Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.S825Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.S822Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	822					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)				CTGAGAACTAGAAGAGAAGCC	0.577																																					p.S841Y													.	PTPRT	372		0			c.C2522A												329	332	331					20																	40827906		2049	4206	6255	SO:0001583	missense	11122	exon17			GAACTAGAAGAGA	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.2465C>A	20.37:g.40827906G>T	ENSP00000362283:p.Ser822Tyr		226	0.0044247788	1		208	0.01	3	NM_133170	0		0	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951173	0.18431	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35973	1.34;1.29;1.3;1.28;1.31;1.29;1.29	5.4	5.4	0.78164	.	0.315069	0.35466	N	0.003183	T	0.28830	0.0715	N	0.22421	0.69	0.46279	D	0.998967	B;B	0.25609	0.13;0.046	B;B	0.29077	0.098;0.045	T	0.05007	-1.0912	10	0.22706	T	0.39	.	17.7172	0.88341	0.0:0.0:1.0:0.0	.	844;822	O14522-1;O14522	.;PTPRT_HUMAN	Y	822;822;825;831;844;812;812	ENSP00000362286:S822Y;ENSP00000362283:S822Y;ENSP00000362289:S825Y;ENSP00000348408:S831Y;ENSP00000362294:S844Y;ENSP00000362280:S812Y;ENSP00000362297:S812Y	ENSP00000348408:S831Y	S	-	2	0	PTPRT	40261320	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.623000	0.74238	2.694000	0.91930	0.655000	0.94253	TCT			0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000080315.1				T	40827906	G	T	40827906	3	4	96	1	0	0	0	0	1	0	0	0	12835	942	33	3	1924	3	PTPRT	20	40827906	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	4185873	40827906	22197614	476	7261											
DBNDD2	55861	broad.mit.edu	37	chr20	44037587	44037587	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcgtctggtatgcccCtctgctttggggacttcagt	4	13	11	13	1	3	0	1	0	2	0	4	1	3	1	3	3	2	2	3	3	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:44037587C>A	ENST00000372720.3	+	3	802				DBNDD2_ENST00000357275.2_Intron|DBNDD2_ENST00000372722.3_Missense_Mutation_p.L96I|SYS1-DBNDD2_ENST00000452133.1_Intron|DBNDD2_ENST00000360981.4_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|DBNDD2_ENST00000372723.3_Intron|DBNDD2_ENST00000372712.2_Intron|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372717.1_Missense_Mutation_p.L96I|DBNDD2_ENST00000372710.3_Intron	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2						negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGTATGCCCCTCTGCTTTGG	0.572																																					p.L198I													.	DBNDD2	30		0			c.C592A												83	83	83					20																	44037587		1924	4133	6057	SO:0001627	intron_variant	55861	exon2			ATGCCCCTCTGCT	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"chromosome 20 open reading frame 35"	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.571+9C>A	20.37:g.44037587C>A			106	0	0		104	0.04	4	NM_001048226	2	0	0	Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	CCDS56193.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548958	0.65311	.	.	ENSG00000244274	ENST00000372722;ENST00000372717	T;T	0.30981	1.51;1.51	5.29	0.411	0.16392	.	.	.	.	.	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.17098	0.017	T	0.32693	-0.9897	8	.	.	.	.	3.7041	0.08394	0.0:0.4545:0.1863:0.3592	.	96	Q5QPV4	.	I	96	ENSP00000361807:L96I;ENSP00000361802:L96I	.	L	+	1	0	DBNDD2	43471001	0.000000	0.05858	0.060000	0.19600	0.997000	0.91878	-0.950000	0.03889	0.207000	0.20607	0.655000	0.94253	CTC			0.572	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000079438.1		NM_018478		A	44037587	C	A	44037587	1	1	96	0	1	0	0	0	0	0	0	0	4256	681	24	3		3	DBNDD2	20	44037587	Intron	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	3209681	44037587	18987933	477	7262											
PLTP	5360	broad.mit.edu	37	chr20	44539808	44539808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcagagatgttgtagtaGaagtggccttctttgccccg	8	13	11	9	1	2	2	1	0	1	2	2	3	2	2	3	1	2	3	3	1	4	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:44539808G>T	ENST00000477313.1	-	2	777	c.183C>A	c.(181-183)ttC>ttA	p.F61L	PLTP_ENST00000542937.1_Missense_Mutation_p.F81L|PLTP_ENST00000354050.4_Missense_Mutation_p.F61L|PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000372431.3_Missense_Mutation_p.F61L|PLTP_ENST00000420868.2_Missense_Mutation_p.F61L			P55058	PLTP_HUMAN	phospholipid transfer protein	61					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)				TGTTGTAGTAGAAGTGGCCTT	0.632																																					p.F61L													.	PLTP	49		0			c.C183A												83	86	85					20																	44539808		2203	4300	6503	SO:0001583	missense	5360	exon3			GTAGTAGAAGTGG	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.183C>A	20.37:g.44539808G>T	ENSP00000417138:p.Phe61Leu		161	0.0062111801	1		185	0.02	4	NM_182676	101	0	0	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733933	0.69189	.	.	ENSG00000100979	ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.74	5.07	3.1	0.35709	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	M	0.70275	2.135	0.58432	D	0.999991	D;D;D;D;D;D	0.89917	0.997;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.87578	0.985;0.985;0.998;0.997;0.998;0.998	T	0.02868	-1.1100	10	0.22706	T	0.39	-34.4253	11.5657	0.50805	0.1467:0.0:0.8533:0.0	.	61;61;61;61;61;81	E7EV16;B4DRB4;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	L	61;61;61;81;61	ENSP00000361508:F61L;ENSP00000335290:F61L;ENSP00000417138:F61L;ENSP00000440296:F81L;ENSP00000411671:F61L	ENSP00000335290:F61L	F	-	3	2	PLTP	43973215	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.864000	0.56024	0.705000	0.31890	0.467000	0.42956	TTC			0.632	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354633.1		NM_006227		T	44539808	G	T	44539808	3	4	96	1	0	0	0	0	1	0	0	0	12131	933	33	3	1354	3	PLTP	20	44539808	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	502221	44539808	18485712	478	7263											
PCIF1	63935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	44574893	44574893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagggatcgctgcctGtgcatgtctttgaggccctc	4	11	13	13	1	1	1	0	1	1	0	3	2	1	2	3	2	3	3	3	2	0	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:44574893G>T	ENST00000372409.3	+	14	1847	c.1483G>T	c.(1483-1485)Gtg>Ttg	p.V495L	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	495					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ATCGCTGCCTGTGCATGTCTT	0.627																																					p.V495L													.	.			0			c.G1483T												109	101	104					20																	44574893		2203	4300	6503	SO:0001583	missense	63935	exon14			CTGCCTGTGCATG	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1483G>T	20.37:g.44574893G>T	ENSP00000361486:p.Val495Leu		63	0	0		95	0.18	17	NM_022104	100	0.28	28	E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271031	0.59540	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	4.96	3.97	0.46021	Phosphorylated CTD interacting factor 1, WW domain (1);	0.061488	0.64402	D	0.000004	T	0.50820	0.1638	L	0.52759	1.655	0.80722	D	1	P	0.35383	0.498	B	0.32762	0.152	T	0.54364	-0.8305	9	0.49607	T	0.09	-20.2718	14.1415	0.65322	0.0:0.1512:0.8488:0.0	.	495	Q9H4Z3	PCIF1_HUMAN	L	495	.	ENSP00000361486:V495L	V	+	1	0	PCIF1	44008300	1.000000	0.71417	0.896000	0.35187	0.857000	0.48899	9.377000	0.97184	1.244000	0.43870	0.462000	0.41574	GTG			0.627	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079550.1		NM_022104		T	44574893	G	T	44574893	3	4	96	1	0	0	0	0	1	0	0	0	11597	1377	48	3	1529	3	PCIF1	20	44574893	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	35085	44574893	18450627	479	7264											
MC3R	4159	broad.mit.edu	37	chr20	54824540	54824540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcacatgttcctctttgCgcggctgcacgtcaagcgca	6	10	11	14	5	2	0	1	0	1	0	3	0	3	0	1	1	4	5	1	1	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr20:54824540C>T	ENST00000243911.2	+	1	753	c.641C>T	c.(640-642)gCg>gTg	p.A214V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	214					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TTCCTCTTTGCGCGGCTGCAC	0.572																																					p.A214V													.	MC3R	83		0			c.C641T												179	133	149					20																	54824540		2203	4300	6503	SO:0001583	missense	4159	exon1			TCTTTGCGCGGCT		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.641C>T	20.37:g.54824540C>T	ENSP00000243911:p.Ala214Val		149	0	0		186	0.02	4	NM_019888	0		0	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605699	0.87157	.	.	ENSG00000124089	ENST00000243911	T	0.34072	1.38	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.61085	0.2319	M	0.70903	2.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.66126	-0.6001	10	0.87932	D	0	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	251	P41968	MC3R_HUMAN	V	214	ENSP00000243911:A214V	ENSP00000243911:A214V	A	+	2	0	MC3R	54257947	1.000000	0.71417	0.995000	0.50966	0.803000	0.45373	7.624000	0.83124	2.259000	0.74868	0.555000	0.69702	GCG			0.572	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079786.2				T	54824540	C	T	54824540	3	4	96	1	0	0	0	0	1	0	0	0	9381	768	27	1	643	1	MC3R	20	54824540	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	10249647	54824540	8200980	480	7265											
BTG3	10950	broad.mit.edu	37	chr21	18966553	18966553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaatggaacaggaggaGgatagtgattctgatggcca	15	7	13	6	0	1	2	0	2	1	0	1	6	1	6	2	5	2	0	2	5	4	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:18966553G>T	ENST00000348354.6	-	5	873	c.617C>A	c.(616-618)cCt>cAt	p.P206H	BTG3_ENST00000339775.6_Missense_Mutation_p.P250H	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	206					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		AACAGGAGGAGGATAGTGATT	0.443																																					p.P250H													.	BTG3	27		0			c.C749A												143	127	133					21																	18966553		2203	4299	6502	SO:0001583	missense	10950	exon6			GGAGGAGGATAGT	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.617C>A	21.37:g.18966553G>T	ENSP00000284879:p.Pro206His		204	0	0		305	0.01	4	NM_001130914	320	0	0	D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532660	0.27387	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	4.12	3.24	0.37175	.	0.078763	0.48767	D	0.000165	T	0.12263	0.0298	N	0.14661	0.345	0.23396	N	0.997762	B;P	0.40180	0.22;0.705	B;B	0.25140	0.042;0.058	T	0.14952	-1.0454	9	0.30854	T	0.27	-2.4497	7.9274	0.29883	0.1106:0.0:0.8894:0.0	.	250;206	Q14201-2;Q14201	.;BTG3_HUMAN	H	250;206	.	ENSP00000344609:P250H	P	-	2	0	BTG3	17888424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.728000	0.54991	1.330000	0.45394	0.591000	0.81541	CCT			0.443	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000158196.1		NM_006806		T	18966553	G	T	18966553	3	4	96	1	0	0	0	0	1	0	0	0	1557	1000	35	3	145	3	BTG3	21	18966553	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		18966553	29163342	481	7266											
RNF160	26046	broad.mit.edu	37	chr21	30357129	30357129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgtaagtatcacactgagCcattagccaatatcccatta	13	12	6	10	0	1	1	1	1	0	0	2	1	2	1	3	0	2	2	3	0	6	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:30357129C>T	ENST00000361371.5	-	4	539	c.460G>A	c.(460-462)Gct>Act	p.A154T	LTN1_ENST00000389195.2_Missense_Mutation_p.A200T|LTN1_ENST00000389194.2_Missense_Mutation_p.A200T			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	154					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCACACTGAGCCATTAGCCAA	0.413																																					p.A200T													.	LTN1	141		0			c.G598A												114	110	111					21																	30357129		2203	4300	6503	SO:0001583	missense	26046	exon4			ACTGAGCCATTAG	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.460G>A	21.37:g.30357129C>T	ENSP00000354977:p.Ala154Thr		128	0	0		271	0.02	5	NM_015565	0		0	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.508365	0.85282	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.67523	1.97;1.97;-0.27	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.064576	0.64402	D	0.000005	T	0.72285	0.3441	M	0.66939	2.045	0.58432	D	0.999995	D	0.56521	0.976	P	0.47206	0.541	T	0.76266	-0.3022	10	0.66056	D	0.02	.	19.3304	0.94283	0.0:1.0:0.0:0.0	.	154	O94822	LTN1_HUMAN	T	200;154;156;200	ENSP00000373846:A200T;ENSP00000354977:A154T;ENSP00000373847:A200T	ENSP00000354977:A154T	A	-	1	0	LTN1	29279000	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.425000	0.59875	2.805000	0.96524	0.460000	0.39030	GCT			0.413	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000472108.1		NM_015565		T	30357129	C	T	30357129	3	4	96	1	0	0	0	0	1	0	0	0	13478	739	26	2	4948	2	RNF160	21	30357129	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	11390576	30357129	17772766	482	7267											
BACH1	571	broad.mit.edu	37	chr21	30693795	30693795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccactcaagaatcgtagGccaggctgatggagagctga	11	8	12	10	1	1	4	1	2	0	2	3	5	2	4	2	3	1	3	2	3	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:30693795G>T	ENST00000399921.1	+	2	437	c.194G>T	c.(193-195)gGc>gTc	p.G65V	BACH1_ENST00000286800.3_Missense_Mutation_p.G65V	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGAATCGTAGGCCAGGCTGAT	0.483																																					p.G65V													.	BACH1	66		0			c.G194T												92	79	83					21																	30693795		2203	4300	6503	SO:0001583	missense	571	exon2			TCGTAGGCCAGGC	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.194G>T	21.37:g.30693795G>T	ENSP00000382805:p.Gly65Val		152	0	0		316	0.01	4	NM_206866	1	0	0	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348376	0.61183	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.19	4.31	0.51392	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.155329	0.46758	D	0.000279	T	0.50565	0.1623	M	0.87758	2.905	0.53005	D	0.999963	D	0.89917	1.0	D	0.81914	0.995	T	0.53933	-0.8368	9	.	.	.	-16.6486	6.3502	0.21370	0.1518:0.0:0.6999:0.1483	.	65	O14867	BACH1_HUMAN	V	65	ENSP00000286800:G65V;ENSP00000382805:G65V;ENSP00000400576:G65V;ENSP00000408605:G65V;ENSP00000392202:G65V	.	G	+	2	0	BACH1	29615666	1.000000	0.71417	0.977000	0.42913	0.903000	0.53119	1.912000	0.39946	1.317000	0.45149	0.455000	0.32223	GGC			0.483	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000171974.1		NM_206866		T	30693795	G	T	30693795	3	4	96	1	0	0	0	0	1	0	0	0	1283	1203	42	2	196	2	BACH1	21	30693795	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	336666	30693795	17436100	483	7268											
GRIK1	2897	broad.mit.edu	37	chr21	31045454	31045454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatattatatctggagggaGctttgatgagctcttgtaga	11	15	11	4	0	2	3	0	2	2	1	2	5	2	5	0	2	2	3	0	2	5	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:31045454G>T	ENST00000399907.1	-	4	986	c.575C>A	c.(574-576)gCt>gAt	p.A192D	GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Missense_Mutation_p.A192D|GRIK1_ENST00000389124.2_Missense_Mutation_p.A192D|GRIK1_ENST00000309434.7_Missense_Mutation_p.A192D|GRIK1_ENST00000399914.1_Missense_Mutation_p.A192D|GRIK1_ENST00000399909.1_Missense_Mutation_p.A192D|GRIK1_ENST00000399913.1_Missense_Mutation_p.A192D|GRIK1_ENST00000389125.3_Missense_Mutation_p.A192D|GRIK1_ENST00000535441.1_Missense_Mutation_p.A192D	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	192					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)	TCTGGAGGGAGCTTTGATGAG	0.408																																					p.A192D													.	GRIK1	293		0			c.C575A												79	83	82					21																	31045454		2203	4300	6503	SO:0001583	missense	2897	exon4			GAGGGAGCTTTGA		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.575C>A	21.37:g.31045454G>T	ENSP00000382791:p.Ala192Asp		158	0	0		282	0.02	5	NM_175611	0		0	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030164	0.93575	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;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;-1.72	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90497	0.7023	M	0.68317	2.08	0.80722	D	1	D;D;P;D;D;D	0.76494	0.999;0.999;0.916;0.999;0.999;0.999	D;D;P;D;D;D	0.87578	0.998;0.998;0.826;0.998;0.998;0.997	D	0.89764	0.3949	10	0.51188	T	0.08	.	19.1745	0.93599	0.0:0.0:1.0:0.0	.	192;192;192;192;192;192	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	D	192;192;192;192;192;136;192;192;192;192	ENSP00000327687:A192D;ENSP00000373777:A192D;ENSP00000382797:A192D;ENSP00000382798:A192D;ENSP00000446326:A192D;ENSP00000373776:A192D;ENSP00000382791:A192D;ENSP00000382793:A192D;ENSP00000311646:A192D	ENSP00000311646:A192D	A	-	2	0	GRIK1	29967325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.627000	0.98412	2.850000	0.98022	0.650000	0.86243	GCT			0.408	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000171979.1				T	31045454	G	T	31045454	3	4	96	1	0	0	0	0	1	0	0	0	6788	971	34	2	2397	2	GRIK1	21	31045454	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	351659	31045454	17084441	484	7269											
TIAM1	7074	broad.mit.edu	37	chr21	32624145	32624145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaccaggaagttcttgaCggccagggcgccggccttgc	6	7	15	13	3	1	1	0	1	1	0	1	2	1	2	4	4	2	2	4	4	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:32624145C>T	ENST00000286827.3	-	6	1795	c.1324G>A	c.(1324-1326)Gtc>Atc	p.V442I	TIAM1_ENST00000541036.1_Missense_Mutation_p.V442I|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	442	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAGTTCTTGACGGCCAGGGCG	0.642																																					p.V442I													TIAM1_ENST00000286827,rectum,carcinoma,0,2	TIAM1	522	2	0			c.G1324A												72	74	73					21																	32624145		2203	4300	6503	SO:0001583	missense	7074	exon6			TCTTGACGGCCAG		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1324G>A	21.37:g.32624145C>T	ENSP00000286827:p.Val442Ile		157	0	0		300	0.01	3	NM_003253	3	0	0	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822484	0.71028	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.50548	0.78;0.74	4.62	4.62	0.57501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.064020	0.64402	D	0.000008	T	0.36331	0.0963	L	0.34521	1.04	0.80722	D	1	P;P;P;P	0.52316	0.887;0.907;0.952;0.907	B;B;B;B	0.36289	0.081;0.197;0.221;0.132	T	0.45264	-0.9273	10	0.59425	D	0.04	.	17.6527	0.88169	0.0:1.0:0.0:0.0	.	442;442;283;442	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	I	442;283;442	ENSP00000286827:V442I;ENSP00000441570:V442I	ENSP00000286827:V442I	V	-	1	0	TIAM1	31546016	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.494000	0.66905	2.381000	0.81170	0.655000	0.94253	GTC			0.642	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000192552.1		NM_003253		T	32624145	C	T	32624145	3	4	96	1	0	0	0	0	1	0	0	0	15913	536	19	1	3547	1	TIAM1	21	32624145	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1578691	32624145	15505750	485	7270											
BRWD1	54014	broad.mit.edu	37	chr21	40581968	40581968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcattgctaaatatcaGccggatgtctttgcaaaact	11	15	7	8	1	2	0	1	0	1	0	2	1	2	1	1	1	5	3	1	1	5	6	rs147607337		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:40581968G>T	ENST00000333229.2	-	36	4477	c.4150C>A	c.(4150-4152)Ctg>Atg	p.L1384M	BRWD1_ENST00000380800.3_Missense_Mutation_p.L1384M|BRWD1_ENST00000342449.3_Missense_Mutation_p.L1384M	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1384	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)				CTAAATATCAGCCGGATGTCT	0.358																																					p.L1384M	Melanoma(170;988 1986 4794 16843 39731)												.	BRWD1	325		0			c.C4150A												105	97	100					21																	40581968		2202	4300	6502	SO:0001583	missense	54014	exon36			ATATCAGCCGGAT	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.4150C>A	21.37:g.40581968G>T	ENSP00000330753:p.Leu1384Met		122	0	0		247	0.02	4	NM_018963	10	0	0	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.292050|3.292050	0.59976|0.59976	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.32023	.|1.47;1.47;1.47	5.96|5.96	3.59|3.59	0.41128|0.41128	.|Bromodomain (6);Bromodomain, conserved site (1);	.|0.000000	.|0.56097	.|D	.|0.000030	T|T	0.65811|0.65811	0.2727|0.2727	H|H	0.96662|0.96662	3.86|3.86	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.91635	.|0.987;0.987;0.999	T|T	0.71227|0.71227	-0.4655|-0.4655	5|10	.|0.87932	.|D	.|0	-5.0988|-5.0988	9.5836|9.5836	0.39504|0.39504	0.7863:0.0:0.2137:0.0|0.7863:0.0:0.2137:0.0	.|.	.|1384;1384;1384	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	D|M	321|1384;1384;1384;340	.|ENSP00000330753:L1384M;ENSP00000344333:L1384M;ENSP00000370178:L1384M	.|ENSP00000330753:L1384M	A|L	-|-	2|1	0|2	BRWD1|BRWD1	39503838|39503838	0.987000|0.987000	0.35691|0.35691	0.996000|0.996000	0.52242|0.52242	0.969000|0.969000	0.65631|0.65631	2.374000|2.374000	0.44274|0.44274	0.493000|0.493000	0.27837|0.27837	-0.294000|-0.294000	0.09567|0.09567	GCT|CTG			0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000141398.3		NM_033656		T	40581968	G	T	40581968	3	4	96	1	0	0	0	0	1	0	0	0	1527	962	34	2	3079	2	BRWD1	21	40581968	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7957823	40581968	7547927	486	7271											
DSCAM	1826	broad.mit.edu	37	chr21	41648167	41648167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggattcggccatttaggGcaattggctggaactgggga	8	11	15	7	1	0	0	0	0	0	0	1	3	0	3	1	7	1	2	1	7	3	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:41648167G>T	ENST00000400454.1	-	11	2690	c.2213C>A	c.(2212-2214)gCc>gAc	p.A738D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	738	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)				GCCATTTAGGGCAATTGGCTG	0.493																																					p.A738D	Melanoma(134;970 1778 1785 21664 32388)												.	DSCAM	347		0			c.C2213A												74	74	74					21																	41648167		1965	4193	6158	SO:0001583	missense	1826	exon11			TTTAGGGCAATTG	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.2213C>A	21.37:g.41648167G>T	ENSP00000383303:p.Ala738Asp		167	0	0		261	0.02	4	NM_001271534	2	0	0	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535316	0.45176	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.27890	1.64;1.64	5.78	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119562	0.56097	D	0.000034	T	0.21761	0.0524	N	0.20845	0.615	0.40583	D	0.981413	P	0.35793	0.521	B	0.38378	0.272	T	0.04320	-1.0960	10	0.13108	T	0.6	.	15.7233	0.77732	0.0758:0.0:0.9242:0.0	.	738	O60469	DSCAM_HUMAN	D	738;490	ENSP00000383303:A738D;ENSP00000385342:A490D	ENSP00000383303:A738D	A	-	2	0	DSCAM	40570037	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.013000	0.64023	2.729000	0.93468	0.650000	0.86243	GCC			0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195029.1		NM_001389		T	41648167	G	T	41648167	3	4	96	1	0	0	0	0	1	0	0	0	4773	1203	42	2	3917	2	DSCAM	21	41648167	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1066199	41648167	6481728	487	7272											
UMODL1	89766	broad.mit.edu	37	chr21	43547248	43547248	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgtcaggatcgaagtgggGctctacaggcagaaaagcaa	14	6	14	7	1	2	1	1	0	1	1	3	4	2	2	0	4	2	3	0	4	5	1	rs373998313		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:43547248G>T	ENST00000408910.2	+	19	3426	c.3426G>T	c.(3424-3426)ggG>ggT	p.G1142G	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Silent_p.G1270G|UMODL1_ENST00000400427.1_Silent_p.G1198G|UMODL1_ENST00000400424.2_Silent_p.G1070G	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1142	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						TCGAAGTGGGGCTCTACAGGC	0.522																																					p.G1270G	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												.	UMODL1	186		0			c.G3810T												92	94	93					21																	43547248		2001	4168	6169	SO:0001819	synonymous_variant	89766	exon18			AGTGGGGCTCTAC		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.3426G>T	21.37:g.43547248G>T			132	0	0		225	0.01	3	NM_173568	83	0	0	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	CCDS42936.1																																																																																					0.522	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195292.2				T	43547248	G	T	43547248	2	4	96	1	0	0	0	0	0	0	0	1	17004	1190	42	2		2	UMODL1	21	43547248	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1899081	43547248	4582647	488	7273											
RRP1	8568	broad.mit.edu	37	chr21	45217893	45217893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactggacacacaggatgaGgaggtggcgtcggacagtga	12	5	17	7	2	0	2	0	2	0	0	1	7	0	6	0	6	1	0	0	6	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:45217893G>T	ENST00000497547.1	+	8	840	c.723G>T	c.(721-723)gaG>gaT	p.E241D	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					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)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CACAGGATGAGGAGGTGGCGT	0.577																																					p.E241D													.	RRP1	23		0			c.G723T												72	84	80					21																	45217893		2139	4250	6389	SO:0001583	missense	8568	exon8			GGATGAGGAGGTG	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"DNA segment on chromosome 21 (unique) 2056 expressed sequence", "Nnp1 homolog, nucleolar protein (Drosophila)"	610653	"ribosomal RNA processing 1 homolog (S. cerevisiae)"			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.723G>T	21.37:g.45217893G>T	ENSP00000417464:p.Glu241Asp		152	0	0		227	0.01	3	NM_003683	553	0	0	A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	G	4.511	0.094742	0.08681	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.32272	1.46	3.73	-0.297	0.12820	.	0.786170	0.12231	N	0.487482	T	0.10766	0.0263	N	0.03154	-0.405	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	0.22487	-1.0215	10	0.87932	D	0	.	0.6842	0.00880	0.2287:0.1921:0.3821:0.1971	.	241;108;241	B4DZM3;Q96J73;P56182	.;.;RRP1_HUMAN	D	241	ENSP00000417464:E241D	ENSP00000383237:E241D	E	+	3	2	RRP1	44042321	0.084000	0.21492	0.021000	0.16686	0.007000	0.05969	-0.095000	0.11077	0.039000	0.15632	-0.150000	0.13652	GAG			0.577	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195680.1		NM_003683		T	45217893	G	T	45217893	3	4	96	1	0	0	0	0	1	0	0	0	13708	991	35	3	753	3	RRP1	21	45217893	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1670645	45217893	2912002	489	7274											
DNMT3L	29947	broad.mit.edu	37	chr21	45679568	45679568	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgctgtgtgtgaacctGgagacttccgcagcagatgc	8	9	15	9	1	0	3	0	1	0	2	1	4	1	3	2	2	4	3	2	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr21:45679568G>A	ENST00000418993.1	-	4	661	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	DNMT3L_ENST00000270172.3_Nonsense_Mutation_p.Q60*	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	60	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GTGTGAACCTGGAGACTTCCG	0.517																																					p.Q60X													.	DNMT3L	33		0			c.C178T												76	70	72					21																	45679568		2201	4298	6499	SO:0001587	stop_gained	29947	exon4			GAACCTGGAGACT	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.178C>T	21.37:g.45679568G>A	ENSP00000412862:p.Gln60*		195	0	0		299	0.02	6	NM_013369	1380	0	1	E9PB42|Q9BUJ4	Nonsense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494923	0.85069	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	.	.	.	4.36	3.4	0.38934	.	0.292848	0.33346	N	0.005002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-22.0	9.0065	0.36115	0.0:0.0:0.7795:0.2205	.	.	.	.	X	60;60;45	.	ENSP00000270172:Q60X	Q	-	1	0	DNMT3L	44503996	1.000000	0.71417	0.965000	0.40720	0.380000	0.30137	3.504000	0.53347	2.417000	0.82017	0.655000	0.94253	CAG			0.517	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000195820.1		NM_013369		A	45679568	G	A	45679568	4	1	96	1	0	0	0	0	0	1	0	0	4683	1357	47	3	1021	3	DNMT3L	21	45679568	Nonsense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	461675	45679568	2450327	490	7275											
IL17RA	23765	mdanderson.org	37	chr22	17589847	17589847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccgggactggcaggtcCgctgtcccgactggttcgaa	5	9	15	12	4	0	0	0	0	0	0	4	3	3	1	3	5	0	4	3	5	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:17589847C>T	ENST00000319363.6	+	13	1871	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	580			R -> H (in dbSNP:rs17850765). {ECO:0000269|PubMed:15489334}.		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)		CTGGCAGGTCCGCTGTCCCGA	0.662																																					p.R580C													.	.			0			c.C1738T																																									SO:0001583	missense	23765	exon13			CAGGTCCGCTGTC	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.1738C>T	22.37:g.17589847C>T	ENSP00000320936:p.Arg580Cys		24	0	0		19	0.11	2	NM_014339	15	0	0	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775717	0.31411	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.05855	3.38	5.1	1.7	0.24286	.	0.968565	0.08528	N	0.932483	T	0.07773	0.0195	L	0.44542	1.39	0.09310	N	1	D;D	0.69078	0.996;0.997	B;P	0.47299	0.424;0.543	T	0.36286	-0.9754	10	0.72032	D	0.01	-13.8449	2.8486	0.05551	0.2365:0.4188:0.2542:0.0904	.	528;580	D3YTB4;Q96F46	.;I17RA_HUMAN	C	528;580	ENSP00000320936:R580C	ENSP00000320936:R580C	R	+	1	0	IL17RA	15969847	0.852000	0.29690	0.003000	0.11579	0.034000	0.12701	1.683000	0.37638	1.292000	0.44672	-0.221000	0.12465	CGC			0.662	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315820.1		NM_014339		T	17589847	C	T	17589847	3	4	96	1	0	0	0	0	1	0	0	0	7654	652	23	1	1788	1	IL17RA	22	17589847	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10		17589847	33714719	491	7276											
PRODH	8214	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	18900987	18900987	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcacacatgcctagcaGctgtccaaagtacacccggt	10	8	9	14	1	1	0	1	0	0	0	2	0	2	0	3	2	4	3	3	2	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:18900987G>C	ENST00000331444.6	+	0	1214				PRODH_ENST00000420436.1_Missense_Mutation_p.L419V|PRODH_ENST00000357068.6_Missense_Mutation_p.L527V|PRODH_ENST00000334029.2_Missense_Mutation_p.L419V	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6						cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						ATGCCTAGCAGCTGTCCAAAG	0.627																																					p.L527V													.	PRODH	42		0			c.C1579G												81	64	70					22																	18900987		2200	4298	6498	SO:0001628	intergenic_variant	5625	exon14			CTAGCAGCTGTCC	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162		22.37:g.18900987G>C			230	0.0086956522	2		190	0.47	90	NM_016335	434	0.48	210	B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	37	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	N	21.3	4.133011	0.77662	.	.	ENSG00000100033	ENST00000357068;ENST00000313755	T	0.75050	-0.9	4.67	2.58	0.30949	Proline dehydrogenase (1);	0.086607	0.47852	N	0.000206	D	0.88291	0.6397	H	0.95645	3.7	0.48975	D	0.99973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87778	0.2610	10	0.87932	D	0	-27.0343	8.7765	0.34765	0.1884:0.0:0.8116:0.0	.	443;527;419	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	V	527;172	ENSP00000349577:L527V	ENSP00000318329:L172V	L	-	1	2	PRODH	17280987	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.598000	0.46223	0.520000	0.28426	0.505000	0.49811	CTG			0.627	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316631.2		NM_005675		C	18900987	G	C	18900987	1	2	96	0	1	0	0	0	0	0	0	0	12568	962	34	5		5	PRODH	22	18900987	IGR	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1311140	18900987	32403579	492	7277											
CLTCL1	8218	broad.mit.edu	37	chr22	19263276	19263276	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcaccaactttctctcgGatacatatgaacttgtcaga	11	13	6	11	1	3	2	2	1	1	1	5	3	3	3	1	1	4	1	1	1	4	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:19263276G>T	ENST00000263200.10	-	2	192	c.120C>A	c.(118-120)atC>atA	p.I40I	CLTCL1_ENST00000427926.1_Silent_p.I40I|CLTCL1_ENST00000353891.5_Silent_p.I40I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	40	Globular terminal domain.|WD40-like repeat 1.				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)					CTTTCTCTCGGATACATATGA	0.453			T	?	ALCL																																p.I40I				Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	.	CLTCL1	115		0			c.C120A												63	62	63					22																	19263276		1968	4151	6119	SO:0001819	synonymous_variant	8218	exon2			CTCTCGGATACAT		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.120C>A	22.37:g.19263276G>T			141	0	0		143	0.03	4	NM_001835	0		0	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																					0.453	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316397.5		NM_007098		T	19263276	G	T	19263276	2	4	96	1	0	0	0	0	0	0	0	1	3569	1164	41	3		3	CLTCL1	22	19263276	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	362289	19263276	32041290	493	7278											
SCARF2	91179	mdanderson.org	37	chr22	20780271	20780271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgtggatccaggacacCttaggcttggtggcggggtc	5	10	16	10	2	0	0	0	0	0	0	2	2	1	2	3	7	1	1	3	7	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:20780271C>A	ENST00000266214.5	-	11	2111	c.2007G>T	c.(2005-2007)aaG>aaT	p.K669N	SCARF2_ENST00000405555.3_Missense_Mutation_p.K664N	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	669	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCCAGGACACCTTAGGCTTGG	0.751																																					p.K669N													SCARF2,middle_lobe,carcinoma,-1,1	SCARF2	-1	1	0			c.G2007T												19	22	21					22																	20780271		2201	4297	6498	SO:0001583	missense	91179	exon11			GGACACCTTAGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2007G>T	22.37:g.20780271C>A	ENSP00000266214:p.Lys669Asn		31	0	0		16	0.19	3	NM_153334	8	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591020	0.66219	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.24350	1.91;1.86	3.39	1.17	0.20885	.	0.073587	0.50627	U	0.000106	T	0.31670	0.0804	L	0.29908	0.895	0.23923	N	0.996451	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.05920	-1.0856	10	0.48119	T	0.1	.	7.5145	0.27593	0.0:0.7714:0.0:0.2286	.	664;664	E5RFB8;Q96GP6	.;SREC2_HUMAN	N	664;664;669	ENSP00000385589:K664N;ENSP00000266214:K669N	ENSP00000266214:K669N	K	-	3	2	SCARF2	19110271	0.998000	0.40836	1.000000	0.80357	0.926000	0.56050	0.393000	0.20817	0.251000	0.21505	0.447000	0.29281	AAG			0.751	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320047.1				A	20780271	C	A	20780271	3	1	96	1	0	0	0	0	1	0	0	0	13907	680	24	3	609	3	SCARF2	22	20780271	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	1516995	20780271	30524295	494	7279											
CABIN1	23523	broad.mit.edu	37	chr22	24480695	24480695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagaggccagcccttaGcctggacaaagtctctgcct	10	7	10	14	0	1	1	0	0	1	1	2	3	1	2	4	2	3	0	4	2	2	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:24480695G>T	ENST00000398319.2	+	21	3459	c.3074G>T	c.(3073-3075)aGc>aTc	p.S1025I	CABIN1_ENST00000263119.5_Missense_Mutation_p.S1025I|CABIN1_ENST00000405822.2_Missense_Mutation_p.S975I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1025					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)			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						CCAGCCCTTAGCCTGGACAAA	0.552																																					p.S1025I													.	CABIN1	153		0			c.G3074T												91	77	82					22																	24480695		2203	4300	6503	SO:0001583	missense	23523	exon21			CCCTTAGCCTGGA	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.3074G>T	22.37:g.24480695G>T	ENSP00000381364:p.Ser1025Ile		167	0.005988024	1		154	0.03	4	NM_001199281	22	0	0	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143016	0.57044	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.63580	0.15;-0.05;0.15	5.56	4.54	0.55810	.	0.189883	0.56097	D	0.000034	T	0.49423	0.1556	L	0.32530	0.975	0.80722	D	1	P;B	0.36909	0.573;0.437	B;B	0.36186	0.219;0.109	T	0.42582	-0.9443	10	0.16896	T	0.51	.	14.0605	0.64797	0.0727:0.0:0.9273:0.0	.	975;1025	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	1025;975;1025	ENSP00000263119:S1025I;ENSP00000384694:S975I;ENSP00000381364:S1025I	ENSP00000263119:S1025I	S	+	2	0	CABIN1	22810695	1.000000	0.71417	0.986000	0.45419	0.521000	0.34408	3.234000	0.51320	1.505000	0.48720	0.650000	0.86243	AGC			0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320161.2		NM_012295		T	24480695	G	T	24480695	3	4	96	1	0	0	0	0	1	0	0	0	2530	971	34	2	3152	2	CABIN1	22	24480695	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3700424	24480695	26823871	495	7280											
ZNRF3	84133	mdanderson.org	37	chr22	29446834	29446834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctagggccctactgCggcctggctgccctccggag	4	6	15	16	2	0	0	0	0	0	0	1	1	1	1	5	5	3	2	5	5	2	2	rs375016509	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:29446834C>T	ENST00000544604.2	+	8	2840	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	ZNRF3_ENST00000402174.1_Missense_Mutation_p.R789W|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R789W|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R789W	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	889					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						GGCCCTACTGCGGCCTGGCTG	0.706													C|||	2	0.000399361	0.0015	0	5008	,	,		15339	0		0	False		,,,				2504	0				p.R889W													.	.			0			c.C2665T							C	TRP/ARG,TRP/ARG	2,3864		0,2,1931	10	12	11		2665,2365	-1.9	0	22		11	0,8224		0,0,4112	no	missense,missense	ZNRF3	NM_001206998.1,NM_032173.3	101,101	0,2,6043	TT,TC,CC		0.0,0.0517,0.0165	probably-damaging,probably-damaging	889/937,789/837	29446834	2,12088	1933	4112	6045	SO:0001583	missense	84133	exon8			CTACTGCGGCCTG	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.2665C>T	22.37:g.29446834C>T	ENSP00000443824:p.Arg889Trp		23	0	0		26	0.08	2	NM_001206998	62	0	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	5.380	0.255273	0.10185	5.17E-4	0.0	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.09073	3.16;3.02;3.02;3.02	4.75	-1.93	0.07594	.	1.143190	0.06746	N	0.779226	T	0.06325	0.0163	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	B	0.44315	0.446	T	0.33471	-0.9867	10	0.66056	D	0.02	4.7171	4.8074	0.13326	0.3229:0.4553:0.0:0.2217	.	889	Q9ULT6	ZNRF3_HUMAN	W	889;789;596;789;789	ENSP00000443824:R889W;ENSP00000328614:R789W;ENSP00000384456:R789W;ENSP00000384553:R789W	ENSP00000328614:R789W	R	+	1	2	ZNRF3	27776834	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.151000	0.10175	-0.246000	0.09611	-0.218000	0.12543	CGG			0.706	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972		T	29446834	C	T	29446834	3	4	96	1	0	0	0	0	1	0	0	0	18236	759	27	1	2391	1	ZNRF3	22	29446834	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	4966139	29446834	21857732	496	7281											
SLC5A4	6527	broad.mit.edu	37	chr22	32620367	32620367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactccacagataatcttggGacagttactgggagccaagc	12	8	10	11	0	1	1	0	0	1	1	2	3	2	3	2	2	3	1	2	2	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:32620367G>T	ENST00000266086.4	-	13	1563	c.1552C>A	c.(1552-1554)Ccc>Acc	p.P518T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	518					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATAATCTTGGGACAGTTACTG	0.458																																					p.P518T													.	SLC5A4	82		0			c.C1552A												104	82	89					22																	32620367		2203	4300	6503	SO:0001583	missense	6527	exon13			TCTTGGGACAGTT	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1552C>A	22.37:g.32620367G>T	ENSP00000266086:p.Pro518Thr		174	0	0		175	0.02	4	NM_014227	0		0	O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368848	0.61624	.	.	ENSG00000100191	ENST00000266086	T	0.79653	-1.29	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94142	0.7398	10	0.87932	D	0	.	15.5222	0.75874	0.0:0.0:1.0:0.0	.	518	Q9NY91	SC5A4_HUMAN	T	518	ENSP00000266086:P518T	ENSP00000266086:P518T	P	-	1	0	SLC5A4	30950367	1.000000	0.71417	0.828000	0.32881	0.381000	0.30169	9.422000	0.97458	2.516000	0.84829	0.655000	0.94253	CCC			0.458	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315724.1		NM_014227		T	32620367	G	T	32620367	3	4	96	1	0	0	0	0	1	0	0	0	14690	1174	41	3	439	3	SLC5A4	22	32620367	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3173533	32620367	18684199	497	7282											
LGALS2	3957	broad.mit.edu	37	chr22	37966694	37966694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcgctgaagcgagggttGaaatgcaggttcagcttgtc	9	11	14	7	2	1	2	1	2	0	0	3	4	1	2	0	2	3	5	0	2	2	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:37966694G>T	ENST00000215886.4	-	3	312	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	46	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					AGCGAGGGTTGAAATGCAGGT	0.547																																					p.F46L	GBM(193;1840 2185 13711 20676 24505)												.	LGALS2	16		0			c.C138A												140	125	130					22																	37966694		2203	4300	6503	SO:0001583	missense	3957	exon3			AGGGTTGAAATGC		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"Lectins, galactoside-binding"	6562	protein-coding gene	gene with protein product	"galectin 2"	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.138C>A	22.37:g.37966694G>T	ENSP00000215886:p.Phe46Leu		150	0.0066666667	1		169	0.03	5	NM_006498	24	0	0	Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367445	0.82463	.	.	ENSG00000100079	ENST00000215886	T	0.06687	3.27	5.97	3.8	0.43715	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.133340	0.64402	D	0.000001	T	0.24812	0.0602	M	0.76727	2.345	0.46396	D	0.999028	D	0.89917	1.0	D	0.91635	0.999	T	0.00448	-1.1733	10	0.72032	D	0.01	-20.1527	7.7463	0.28871	0.0962:0.1665:0.7373:0.0	.	46	P05162	LEG2_HUMAN	L	46	ENSP00000215886:F46L	ENSP00000215886:F46L	F	-	3	2	LGALS2	36296640	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	2.191000	0.42640	0.700000	0.31782	0.655000	0.94253	TTC			0.547	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318991.1		NM_006498		T	37966694	G	T	37966694	3	4	96	1	0	0	0	0	1	0	0	0	8757	1281	45	3	268	3	LGALS2	22	37966694	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5346327	37966694	13337872	498	7283											
NOL12	79159	broad.mit.edu	37	chr22	38087248	38087248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaggaaacatccccgaCgggcccaggactccaaaaag	15	3	10	13	2	1	1	1	0	0	1	3	4	3	3	4	3	1	0	4	3	4	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:38087248C>T	ENST00000359114.4	+	6	617	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	183						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)	p.R183W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					ACATCCCCGACGGGCCCAGGA	0.602																																					p.R183W													NOL12,NS,carcinoma,-1,2	NOL12	22	2	1	Substitution - Missense(1)	large_intestine(1)	c.C547T												72	67	69					22																	38087248		2203	4300	6503	SO:0001583	missense	79159	exon6			CCCCGACGGGCCC	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.547C>T	22.37:g.38087248C>T	ENSP00000352021:p.Arg183Trp		324	0	0		320	0.01	4	NM_024313	142	0	0		Missense_Mutation	SNP	ENST00000359114.4	37	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703963	0.30232	.	.	ENSG00000256872	ENST00000359114	D	0.83914	-1.78	6.08	5.06	0.68205	.	0.159698	0.56097	D	0.000040	T	0.79902	0.4526	L	0.59436	1.845	0.09310	N	0.999999	P	0.49635	0.926	B	0.39660	0.306	T	0.74112	-0.3770	10	0.46703	T	0.11	-5.3093	14.9439	0.71014	0.1431:0.8569:0.0:0.0	.	183	Q9UGY1	NOL12_HUMAN	W	183	ENSP00000352021:R183W	ENSP00000352021:R183W	R	+	1	2	Z83844.2	36417194	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	1.037000	0.30241	1.583000	0.49898	-0.230000	0.12252	CGG			0.602	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319476.1		NM_024313		T	38087248	C	T	38087248	3	4	96	1	0	0	0	0	1	0	0	0	10539	527	19	1	569	1	NOL12	22	38087248	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	120554	38087248	13217318	499	7284											
TAB1	10454	mdanderson.org	37	chr22	39826224	39826224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagcgtggtgacagcaccGtagggcagccggagaatgca	11	4	16	10	3	0	3	0	1	0	2	0	4	0	3	2	3	4	4	2	3	2	1	rs375542675		TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:39826224G>A	ENST00000216160.6	+	11	1574	c.1512G>A	c.(1510-1512)ccG>ccA	p.P504P	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	504					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGACAGCACCGTAGGGCAGCC	0.627																																					p.P504P													.	.			0			c.G1512A							G	,	0,4406		0,0,2203	92	73	79		1512,	-10.9	0	22		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	TAB1	NM_006116.2,NM_153497.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	504/505,	39826224	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10454	exon11			AGCACCGTAGGGC	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"TAK1-binding protein 1", "mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	602615	"mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1512G>A	22.37:g.39826224G>A			33	0	0		31	0.1	3	NM_006116	28	0	0	Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	CCDS13993.1																																																																																					0.627	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321313.1		NM_153497		A	39826224	G	A	39826224	2	1	96	1	0	0	0	0	0	0	0	1	15518	1132	40	1		1	TAB1	22	39826224	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1738976	39826224	11478342	500	7285											
SREBF2	6721	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr22	42289198	42289198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactccctgcgctggctctgCcaccccctgggccagaagtt	5	8	11	17	1	1	1	0	0	1	1	2	2	2	1	5	2	2	3	5	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:42289198C>T	ENST00000361204.4	+	12	2452	c.2286C>T	c.(2284-2286)tgC>tgT	p.C762C	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	762					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						GCTGGCTCTGCCACCCCCTGG	0.597																																					p.C762C													.	.			0			c.C2286T												60	62	61					22																	42289198		2203	4300	6503	SO:0001819	synonymous_variant	6721	exon12			GCTCTGCCACCCC	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.2286C>T	22.37:g.42289198C>T			72	0	0		94	0.05	5	NM_004599	95	0	0	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	CCDS14023.1																																																																																					0.597	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321956.1		NM_004599		T	42289198	C	T	42289198	2	4	96	1	0	0	0	0	0	0	0	1	15165	747	26	2		2	SREBF2	22	42289198	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	2462974	42289198	9015368	501	7286											
CYP2D6	1565	broad.mit.edu	37	chr22	42522918	42522918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcatccaggaagtgttcgGggtggaagcggaagggcttc	8	7	19	7	2	0	0	0	0	0	0	3	3	1	3	1	7	1	3	1	7	3	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chr22:42522918G>T	ENST00000360608.5	-	8	1364	c.1250C>A	c.(1249-1251)cCc>cAc	p.P417H	CYP2D6_ENST00000359033.4_Missense_Mutation_p.P366H|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.P417H|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	417					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GAAGTGTTCGGGGTGGAAGCG	0.622																																					p.P417H													.	CYP2D6	104		0			c.C1250A												22	20	20					22																	42522918		2128	4182	6310	SO:0001583	missense	1565	exon8			TGTTCGGGGTGGA	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1250C>A	22.37:g.42522918G>T	ENSP00000353820:p.Pro417His		346	0	0		372	0.01	5	NM_000106	4	0	0	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602363	0.87157	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	D;D;T	0.97161	-4.27;-4.27;3.92	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.98507	4.25	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	0.98914	1.0781	10	0.87932	D	0	.	17.9647	0.89097	0.0:0.0:1.0:0.0	.	417;366;417	C1ID54;Q6NXU8;Q6NWU0	.;.;.	H	417;417;363;366;366	ENSP00000353820:P417H;ENSP00000374620:P417H;ENSP00000351927:P366H	ENSP00000351927:P366H	P	-	2	0	CYP2D6	40852862	1.000000	0.71417	0.936000	0.37596	0.829000	0.46940	7.846000	0.86887	2.323000	0.78572	0.555000	0.69702	CCC			0.622	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320525.1				T	42522918	G	T	42522918	3	4	96	1	0	0	0	0	1	0	0	0	4171	1232	43	3	251	3	CYP2D6	22	42522918	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	233720	42522918	8781648	502	7287											
FRMPD4	9758	broad.mit.edu	37	chrX	12736057	12736057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggccgatggtgaggggaagGcaccccctaatgggaacaca	11	5	15	10	1	0	1	0	1	0	0	0	4	0	3	3	6	1	1	3	6	3	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:12736057G>A	ENST00000380682.1	+	16	3618	c.3112G>A	c.(3112-3114)Gca>Aca	p.A1038T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1038					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						TGAGGGGAAGGCACCCCCTAA	0.512																																					p.A1038T													.	FRMPD4	214		0			c.G3112A												98	81	87					X																	12736057		2203	4300	6503	SO:0001583	missense	9758	exon16			GGGAAGGCACCCC	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.3112G>A	X.37:g.12736057G>A	ENSP00000370057:p.Ala1038Thr		131	0.0152671756	2		259	0.03	7	NM_014728	2	0	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.464090	0.01053	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05717	3.4	5.36	0.651	0.17817	.	1.212630	0.05473	N	0.553496	T	0.03608	0.0103	N	0.13043	0.29	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45175	-0.9279	10	0.10636	T	0.68	0.1566	4.2038	0.10480	0.3108:0.0:0.4186:0.2706	.	1030;1038	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	1038;1029;1027	ENSP00000370057:A1038T	ENSP00000304583:A1027T	A	+	1	0	FRMPD4	12645978	0.078000	0.21339	0.091000	0.20842	0.198000	0.23893	0.284000	0.18864	0.054000	0.16065	-0.281000	0.10026	GCA			0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055771.1		XM_045712		A	12736057	G	A	12736057	3	1	96	1	0	0	0	0	1	0	0	0	6072	1203	42	2	3174	2	FRMPD4	23	12736057	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10		12736057	142534503	503	7288											
GEMIN8	54960	broad.mit.edu	37	chrX	14027165	14027165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtacaaacgcttcatctcgGcctggcgccgctcaccaggc	7	7	10	17	5	3	0	2	0	1	0	4	0	3	0	3	3	2	3	3	3	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:14027165G>T	ENST00000380523.4	-	5	914	c.596C>A	c.(595-597)gCc>gAc	p.A199D	GEMIN8_ENST00000398355.3_Missense_Mutation_p.A199D	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	199					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTTCATCTCGGCCTGGCGCCG	0.622																																					p.A199D													.	GEMIN8	19		0			c.C596A												79	73	75					X																	14027165		2203	4300	6503	SO:0001583	missense	54960	exon5			ATCTCGGCCTGGC	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"family with sequence similarity 51, member A1"	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.596C>A	X.37:g.14027165G>T	ENSP00000369895:p.Ala199Asp		163	0	0		323	0.01	3	NM_017856	125	0	0	C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.990692	0.74589	.	.	ENSG00000046647	ENST00000380523;ENST00000398355	T;T	0.55052	0.54;0.54	5.42	4.36	0.52297	.	0.048902	0.85682	D	0.000000	T	0.67154	0.2863	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.70208	-0.4935	10	0.72032	D	0.01	.	13.1303	0.59377	0.0947:0.0:0.9053:0.0	.	199	Q9NWZ8	GEMI8_HUMAN	D	199	ENSP00000369895:A199D;ENSP00000381398:A199D	ENSP00000369895:A199D	A	-	2	0	GEMIN8	13937086	0.998000	0.40836	0.989000	0.46669	0.672000	0.39443	3.198000	0.51035	2.291000	0.77112	0.529000	0.55759	GCC			0.622	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055815.1		NM_017856		T	14027165	G	T	14027165	3	4	96	1	0	0	0	0	1	0	0	0	6348	1203	42	2	136	2	GEMIN8	23	14027165	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1291108	14027165	141243395	504	7289											
REPS2	9185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	17047745	17047745	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaggcttcccttatccGggtaagtgatgatgcagggt	8	11	13	9	1	1	2	1	2	0	0	3	2	3	2	2	3	1	4	2	3	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:17047745G>A	ENST00000357277.3	+	5	941	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	REPS2_ENST00000303843.7_Splice_Site_p.R256Q|REPS2_ENST00000380064.4_Splice_Site_p.R117Q	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	257					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCCCTTATCCGGGTAAGTGAT	0.547																																					p.R257Q													.	.			0			c.G770A												56	49	52					X																	17047745		2203	4300	6503	SO:0001630	splice_region_variant	9185	exon5			TTATCCGGGTAAG	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.771+1G>A	X.37:g.17047745G>A			98	0	0		174	0.1	18	NM_004726	5	0	0	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529711	0.64860	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.31247	1.53;1.51;1.5	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000040	T	0.19406	0.0466	L	0.32530	0.975	0.51767	D	0.999935	B;P;B	0.34780	0.343;0.468;0.343	B;B;B	0.26614	0.035;0.071;0.042	T	0.05321	-1.0892	10	0.02654	T	1	-13.1773	16.1005	0.81167	0.0:0.0:1.0:0.0	.	117;256;257	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	Q	257;257;256;117	ENSP00000349824:R257Q;ENSP00000306033:R256Q;ENSP00000369404:R117Q	ENSP00000306033:R256Q	R	+	2	0	REPS2	16957666	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	2.801000	0.47908	2.268000	0.75426	0.544000	0.68410	CGG			0.547	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000316778.1		NM_004726	Missense_Mutation	A	17047745	G	A	17047745	5	1	96	1	0	0	0	0	0	0	1	0	13252	1130	39	1	788	1	REPS2	23	17047745	Splice_Site	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	3020580	17047745	138222815	505	7290											
NHS	4810	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	17750309	17750309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagtcccctcagagcaccGatgatgcccatcaggggtca	10	6	11	14	1	3	3	3	1	0	2	4	4	4	3	4	2	2	1	4	2	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:17750309G>A	ENST00000380060.3	+	8	4956	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	NHS_ENST00000398097.3_Missense_Mutation_p.D1384N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1561					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)					TCAGAGCACCGATGATGCCCA	0.562																																					p.D1540N													.	.			0			c.G4618A												86	79	81					X																	17750309		2203	4300	6503	SO:0001583	missense	4810	exon8			AGCACCGATGATG		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.4618G>A	X.37:g.17750309G>A	ENSP00000369400:p.Asp1540Asn		248	0	0		420	0.4	169	NM_198270	11	0.18	2	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251357	0.59212	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.45276	0.9;0.91	5.69	4.83	0.62350	.	0.488362	0.23724	N	0.045192	T	0.29588	0.0738	L	0.43152	1.355	0.46749	D	0.999188	P;B;B;P	0.40681	0.519;0.229;0.229;0.727	B;B;B;B	0.24269	0.052;0.052;0.052;0.049	T	0.06285	-1.0835	10	0.29301	T	0.29	-2.2614	14.3458	0.66662	0.0:0.1917:0.8083:0.0	.	1561;1382;1384;1540	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	N	1540;1384;1382	ENSP00000369400:D1540N;ENSP00000381170:D1384N	ENSP00000369397:D1382N	D	+	1	0	NHS	17660230	1.000000	0.71417	0.521000	0.27850	0.819000	0.46315	6.833000	0.75334	1.293000	0.44690	0.600000	0.82982	GAT			0.562	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059120.1		NM_198270		A	17750309	G	A	17750309	3	1	96	1	0	0	0	0	1	0	0	0	10428	1058	37	1	4753	1	NHS	23	17750309	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	702564	17750309	137520251	506	7291											
KLHL15	80311	broad.mit.edu	37	chrX	24024352	24024352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagcagaaaggtgtctaaCttctccctgactccctcgat	9	12	7	13	1	3	2	0	1	3	1	6	3	4	2	2	1	2	1	2	1	3	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:24024352C>A	ENST00000328046.8	-	3	714	c.459G>T	c.(457-459)aaG>aaT	p.K153N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	153	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AGGTGTCTAACTTCTCCCTGA	0.433																																					p.K153N													.	KLHL15	50		0			c.G459T												129	90	103					X																	24024352		2203	4300	6503	SO:0001583	missense	80311	exon3			GTCTAACTTCTCC	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.459G>T	X.37:g.24024352C>A	ENSP00000332791:p.Lys153Asn		85	0.0117647059	1		193	0.02	4	NM_030624	4	0	0	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528611	0.27299	.	.	ENSG00000174010	ENST00000328046	T	0.69561	-0.41	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.044953	0.85682	D	0.000000	T	0.50803	0.1637	N	0.25890	0.77	0.49130	D	0.999759	B	0.27286	0.174	B	0.26202	0.067	T	0.48864	-0.8997	10	0.30078	T	0.28	.	9.3841	0.38331	0.0:0.8573:0.0:0.1427	.	153	Q96M94	KLH15_HUMAN	N	153	ENSP00000332791:K153N	ENSP00000332791:K153N	K	-	3	2	KLHL15	23934273	1.000000	0.71417	0.999000	0.59377	0.656000	0.38851	3.119000	0.50422	2.301000	0.77427	0.544000	0.68410	AAG			0.433	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056078.1		XM_040383		A	24024352	C	A	24024352	3	1	96	1	0	0	0	0	1	0	0	0	8386	564	20	3	1363	3	KLHL15	23	24024352	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	6274043	24024352	131246208	507	7292											
ARX	170302	broad.mit.edu	37	chrX	25033725	25033725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagctctgcgcggctcccaGcaaccgcattttgcacgggc	7	7	11	16	4	1	0	0	0	1	0	2	0	2	0	2	2	5	5	2	2	2	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:25033725G>T	ENST00000379044.4	-	1	340	c.130C>A	c.(130-132)Ctg>Atg	p.L44M		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	44					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						GCGGCTCCCAGCAACCGCATT	0.617																																					p.L44M													.	ARX	19		0			c.C130A												33	29	31					X																	25033725		2201	4300	6501	SO:0001583	missense	170302	exon1			CTCCCAGCAACCG	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.130C>A	X.37:g.25033725G>T	ENSP00000368332:p.Leu44Met		103	0	0		204	0.02	4	NM_139058	1	0	0		Missense_Mutation	SNP	ENST00000379044.4	37	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688357	0.48097	.	.	ENSG00000004848	ENST00000379044	D	0.91237	-2.81	5.2	4.34	0.51931	.	0.218004	0.29396	U	0.012261	D	0.91123	0.7205	L	0.53249	1.67	0.30726	N	0.747701	D	0.63880	0.993	P	0.55161	0.77	D	0.89148	0.3521	10	0.87932	D	0	.	9.1764	0.37114	0.0834:0.1432:0.7734:0.0	.	44	Q96QS3	ARX_HUMAN	M	44	ENSP00000368332:L44M	ENSP00000368332:L44M	L	-	1	2	ARX	24943646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.208000	0.42797	0.960000	0.38005	0.600000	0.82982	CTG			0.617	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056109.1				T	25033725	G	T	25033725	3	4	96	1	0	0	0	0	1	0	0	0	1004	962	34	2	1578	2	ARX	23	25033725	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1009373	25033725	130236835	508	7293											
MAGEB3	4114	broad.mit.edu	37	chrX	30254694	30254694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcatgaagggcaactgtgCcactgaggagaagatctggg	11	8	14	8	0	2	4	1	2	1	2	2	5	2	4	1	3	2	1	1	3	3	1	rs145982241	byFrequency	TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:30254694C>T	ENST00000361644.2	+	5	1390	c.653C>T	c.(652-654)gCc>gTc	p.A218V		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	218	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GGCAACTGTGCCACTGAGGAG	0.488																																					p.A218V													.	MAGEB3	54		0			c.C653T							C	VAL/ALA	1,3832		0,1,1630,571	43	39	40		653	3.4	0	X	dbSNP_134	40	3,6725		0,3,2425,1872	yes	missense	MAGEB3	NM_002365.4	64	0,4,4055,2443	TT,TC,CC,C		0.0446,0.0261,0.0379	possibly-damaging	218/347	30254694	4,10557	2202	4300	6502	SO:0001583	missense	4114	exon5			ACTGTGCCACTGA	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.653C>T	X.37:g.30254694C>T	ENSP00000355198:p.Ala218Val		104	0	0		182	0.03	5	NM_002365	0		0	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814862	0.50527	2.61E-4	4.46E-4	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04654	3.58;3.58	4.3	3.44	0.39384	.	0.342347	0.26719	U	0.022849	T	0.12305	0.0299	L	0.55481	1.735	0.09310	N	1	D	0.55172	0.97	D	0.64237	0.923	T	0.03212	-1.1060	10	0.54805	T	0.06	.	6.8623	0.24074	0.0:0.8747:0.0:0.1253	.	218	O15480	MAGB3_HUMAN	V	218	ENSP00000368271:A218V;ENSP00000355198:A218V	ENSP00000355198:A218V	A	+	2	0	MAGEB3	30164615	0.205000	0.23458	0.021000	0.16686	0.761000	0.43186	1.097000	0.30988	1.145000	0.42336	0.600000	0.82982	GCC			0.488	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056158.2		NM_002365		T	30254694	C	T	30254694	3	4	96	1	0	0	0	0	1	0	0	0	9193	739	26	2	655	2	MAGEB3	23	30254694	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	5220969	30254694	125015866	509	7294											
DMD	1756	broad.mit.edu	37	chrX	31196891	31196891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttgttttttagtaccttgGcaaagtctcgaacatcttct	9	18	6	8	1	3	0	0	0	3	0	4	1	3	0	1	1	2	3	1	1	4	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:31196891G>T	ENST00000357033.4	-	70	10324	c.10118C>A	c.(10117-10119)gCc>gAc	p.A3373D	DMD_ENST00000343523.2_Missense_Mutation_p.A913D|DMD_ENST00000378707.3_Missense_Mutation_p.A913D|DMD_ENST00000541735.1_Missense_Mutation_p.A913D|DMD_ENST00000361471.4_Missense_Mutation_p.A305D|DMD_ENST00000359836.1_Missense_Mutation_p.A913D|DMD_ENST00000378680.2_Missense_Mutation_p.A305D|DMD_ENST00000378702.4_Missense_Mutation_p.A305D|DMD_ENST00000378723.3_Missense_Mutation_p.A305D|DMD_ENST00000474231.1_Missense_Mutation_p.A913D|DMD_ENST00000378677.2_Missense_Mutation_p.A3369D	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	3373	Interaction with SYNM. {ECO:0000250}.				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)				TAGTACCTTGGCAAAGTCTCG	0.438																																					p.A3373D													.	DMD	2127		0			c.C10118A												131	112	118					X																	31196891		2202	4299	6501	SO:0001583	missense	1756	exon70			ACCTTGGCAAAGT	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.10118C>A	X.37:g.31196891G>T	ENSP00000354923:p.Ala3373Asp		105	0	0		165	0.02	4	NM_004006	10	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480113|4.480113	0.84747|0.84747	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705|ENST00000465285	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91577|.	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87|.	5.45|5.45	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.36815|.	U|.	0.002399|.	T|.	0.75436|.	0.3849|.	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D;D;D;D;D;D;D;D;D;D;P;P;P;P|.	0.89917|.	0.232;0.988;0.999;0.966;1.0;1.0;0.98;0.964;0.984;1.0;1.0;0.997;0.741;0.923;0.602;0.808|.	B;P;D;P;D;D;D;P;P;D;D;D;B;P;B;B|.	0.91635|.	0.048;0.824;0.97;0.518;0.975;0.975;0.937;0.737;0.737;0.998;0.999;0.921;0.426;0.58;0.258;0.348|.	T|.	0.76666|.	-0.2875|.	10|.	0.66056|.	D|.	0.02|.	.|.	15.4037|15.4037	0.74861|0.74861	0.0:0.1348:0.8652:0.0|0.0:0.1348:0.8652:0.0	.|.	305;3365;3373;3369;2032;2029;913;913;913;913;913;3250;305;305;305;305|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	D|X	3365;2032;2029;305;1069;3369;3373;913;913;3373;3250;913;913;305;913;305;305;163|1101	ENSP00000367997:A305D;ENSP00000350765:A1069D;ENSP00000367948:A3369D;ENSP00000354923:A3373D;ENSP00000352894:A913D;ENSP00000340057:A913D;ENSP00000367979:A913D;ENSP00000444119:A913D;ENSP00000367974:A305D;ENSP00000417123:A913D;ENSP00000354464:A305D;ENSP00000367951:A305D;ENSP00000367977:A163D|.	ENSP00000340057:A913D|.	A|C	-|-	2|3	0|2	DMD|DMD	31106812|31106812	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.176000|9.176000	0.94839|0.94839	2.527000|2.527000	0.85204|0.85204	0.600000|0.600000	0.82982|0.82982	GCC|TGC			0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056182.2		NM_004006		T	31196891	G	T	31196891	3	4	96	1	0	0	0	0	1	0	0	0	4585	1203	42	2	1069	2	DMD	23	31196891	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	942197	31196891	124073669	510	7295											
FAM47C	442444	broad.mit.edu	37	chrX	37028069	37028069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcccagagcctcccaagaTtctggtgtccagtctccacc	7	8	8	18	1	2	2	0	0	2	2	5	2	4	2	7	1	1	0	7	1	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:37028069T>C	ENST00000358047.3	+	1	1638	c.1586T>C	c.(1585-1587)aTt>aCt	p.I529T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	529										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						CCTCCCAAGATTCTGGTGTCC	0.612																																					p.I529T													.	FAM47C	267		0			c.T1586C												84	83	84					X																	37028069		2202	4300	6502	SO:0001583	missense	442444	exon1			CCAAGATTCTGGT	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.1586T>C	X.37:g.37028069T>C	ENSP00000367913:p.Ile529Thr		63	0.0158730159	1		114	0.05	6	NM_001013736	0		0	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.715619	0.00005	.	.	ENSG00000198173	ENST00000358047	T	0.09445	2.98	0.957	-1.91	0.07641	.	.	.	.	.	T	0.01627	0.0052	N	0.00159	-1.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24083	-1.0170	9	0.08599	T	0.76	.	3.0862	0.06278	0.1957:0.3646:0.0:0.4397	.	529	Q5HY64	FA47C_HUMAN	T	529	ENSP00000367913:I529T	ENSP00000367913:I529T	I	+	2	0	FAM47C	36937990	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.039000	0.13884	-2.664000	0.00417	-2.457000	0.00206	ATT			0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060508.1		NM_001013736		C	37028069	T	C	37028069	3	2	96	1	0	0	0	0	1	0	0	0	5584	1493	52	4	1588	4	FAM47C	23	37028069	Missense_Mutation	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	5831178	37028069	118242491	511	7296											
ZNF41	7592	broad.mit.edu	37	chrX	47315340	47315340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgaacagctctgatgtgggGcttccccctccagcatccat	7	10	9	15	0	1	2	0	2	1	0	4	2	4	2	4	2	3	3	4	2	1	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:47315340G>A	ENST00000377065.4	-	4	914	c.275C>T	c.(274-276)gCc>gTc	p.A92V	ZNF41_ENST00000313116.7_Missense_Mutation_p.A92V|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.A102V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	134	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(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTGATGTGGGGCTTCCCCCTC	0.522																																					p.A92V													.	ZNF41	71		0			c.C275T												105	85	92					X																	47315340		2203	4300	6503	SO:0001583	missense	7592	exon4			TGTGGGGCTTCCC	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.275C>T	X.37:g.47315340G>A	ENSP00000366265:p.Ala92Val		115	0.0086956522	1		233	0.02	4	NM_007130	1	0	0	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	5.554	0.287032	0.10513	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	2.3	0.472	0.16758	Krueppel-associated box (1);	1.522650	0.04722	N	0.419555	T	0.23210	0.0561	N	0.03115	-0.41	0.19775	N	0.999953	B;B;B;B;B	0.14012	0.009;0.009;0.004;0.009;0.005	B;B;B;B;B	0.21708	0.022;0.022;0.002;0.036;0.016	T	0.20605	-1.0270	10	0.11485	T	0.65	.	5.9798	0.19401	0.3115:0.0:0.6885:0.0	.	92;94;102;126;134	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	V	92;92;102;102	ENSP00000315173:A92V;ENSP00000366265:A92V;ENSP00000380243:A102V;ENSP00000390385:A102V	ENSP00000315173:A92V	A	-	2	0	ZNF41	47200284	0.000000	0.05858	0.282000	0.24776	0.574000	0.36063	-0.240000	0.08952	0.024000	0.15214	0.468000	0.43344	GCC			0.522	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056429.1		NM_153380		A	47315340	G	A	47315340	3	1	96	1	0	0	0	0	1	0	0	0	17912	1203	42	2	2072	2	ZNF41	23	47315340	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	10287271	47315340	107955220	512	7297											
KDM5C	8242	broad.mit.edu	37	chrX	53227713	53227713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcccagagctcgggacacGcaagcctctgcctcactcag	9	6	10	16	2	3	1	2	0	1	1	5	2	4	2	3	1	3	2	3	1	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:53227713G>A	ENST00000375401.3	-	17	3007	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C	KDM5C_ENST00000375383.3_Silent_p.C784C|KDM5C_ENST00000404049.3_Silent_p.C824C|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375379.3_Silent_p.C825C|KDM5C_ENST00000452825.3_Silent_p.C758C	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	825					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTCGGGACACGCAAGCCTCTG	0.567			"N, F, S"		clear cell renal carcinoma																																p.C825C				Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	.	KDM5C	385		0			c.C2475T												32	27	29					X																	53227713		2203	4300	6503	SO:0001819	synonymous_variant	8242	exon17			GGACACGCAAGCC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2475C>T	X.37:g.53227713G>A			158	0	0		356	0.02	6	NM_004187	81	0	0	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	CCDS14351.1																																																																																					0.567	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000056737.2		NM_004187		A	53227713	G	A	53227713	2	1	96	1	0	0	0	0	0	0	0	1	8150	1079	38	1		1	KDM5C	23	53227713	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5912373	53227713	102042847	513	7298											
HUWE1	10075	broad.mit.edu	37	chrX	53572039	53572039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtctgtggctgctcctcagGcaggccatcaggagagaggg	7	7	17	10	0	3	1	2	0	1	1	4	3	4	2	2	6	1	3	2	6	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:53572039G>T	ENST00000342160.3	-	70	11456	c.10999C>A	c.(10999-11001)Cct>Act	p.P3667T	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.P3667T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3667					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						TGCTCCTCAGGCAGGCCATCA	0.602																																					p.P3667T													.	HUWE1	724		0			c.C10999A												41	34	36					X																	53572039		2203	4300	6503	SO:0001583	missense	10075	exon71			CCTCAGGCAGGCC	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.10999C>A	X.37:g.53572039G>T	ENSP00000340648:p.Pro3667Thr		88	0	0		175	0.02	3	NM_031407	158	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.52|12.52	1.962858|1.962858	0.34659|0.34659	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.37058	.|1.22;1.22	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32585|0.32585	0.0834|0.0834	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P	.|0.44816	.|0.759;0.844	.|B;P	.|0.45474	.|0.215;0.482	T|T	0.03384|0.03384	-1.1042|-1.1042	5|10	.|0.28530	.|T	.|0.3	.|.	17.3684|17.3684	0.87369|0.87369	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3667;3651	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	D|T	2700;504|3667	.|ENSP00000340648:P3667T;ENSP00000262854:P3667T	.|ENSP00000262854:P3667T	A|P	-|-	2|1	0|0	HUWE1|HUWE1	53588764|53588764	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.877000|0.877000	0.50540|0.50540	8.658000|8.658000	0.91110|0.91110	2.369000|2.369000	0.80426|0.80426	0.591000|0.591000	0.81541|0.81541	GCC|CCT			0.602	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056766.1		XM_497119		T	53572039	G	T	53572039	3	4	96	1	0	0	0	0	1	0	0	0	7476	1203	42	2	2181	2	HUWE1	23	53572039	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	344326	53572039	101698521	514	7299											
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	54285766	54285766	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagctccaactggttgggaTacaggctgtaaacagtacag	12	9	11	9	0	1	0	1	0	0	0	2	1	2	1	1	3	5	5	1	3	5	4			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:54285766T>C	ENST00000375159.2	-	10	2042	c.2043A>G	c.(2041-2043)gtA>gtG	p.V681V	WNK3_ENST00000354646.2_Silent_p.V681V|WNK3_ENST00000375169.3_Silent_p.V681V			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	681					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTGGTTGGGATACAGGCTGTA	0.338																																					p.V681V													.	.			0			c.A2043G												104	87	93					X																	54285766		2202	4300	6502	SO:0001819	synonymous_variant	65267	exon11			TTGGGATACAGGC	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2043A>G	X.37:g.54285766T>C			61	0	0		115	0.31	36	NM_001002838	1	0	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	CCDS14357.1																																																																																					0.338	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056799.2		NM_020922		C	54285766	T	C	54285766	2	2	96	1	0	0	0	0	0	0	0	1	17403	1393	49	4		4	WNK3	23	54285766	Silent	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	713727	54285766	100984794	515	7300											
GNL3L	54552	broad.mit.edu	37	chrX	54584983	54584983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtggatgtctgctcagtgGaccgccgctcagtgctgcag	5	10	15	11	2	3	0	2	0	1	0	3	2	3	2	2	3	3	4	2	3	0	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:54584983G>T	ENST00000336470.4	+	15	1700	c.1561G>T	c.(1561-1563)Gac>Tac	p.D521Y	GNL3L_ENST00000360845.2_Missense_Mutation_p.D521Y	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	521					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						CTGCTCAGTGGACCGCCGCTC	0.557																																					p.D521Y													.	GNL3L	73		0			c.G1561T												98	71	80					X																	54584983		2203	4300	6503	SO:0001583	missense	54552	exon15			TCAGTGGACCGCC	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.1561G>T	X.37:g.54584983G>T	ENSP00000338573:p.Asp521Tyr		90	0.0222222222	2		162	0.02	4	NM_001184819	27	0	0		Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904158	0.33628	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.19806	2.12;2.12	4.1	4.1	0.47936	.	0.272191	0.40908	D	0.000988	T	0.14874	0.0359	N	0.19112	0.55	0.39297	D	0.964845	D	0.53151	0.958	B	0.43990	0.438	T	0.03139	-1.1068	10	0.45353	T	0.12	-8.1596	10.6527	0.45657	0.0:0.0:1.0:0.0	.	521	Q9NVN8	GNL3L_HUMAN	Y	521	ENSP00000338573:D521Y;ENSP00000354091:D521Y	ENSP00000338573:D521Y	D	+	1	0	GNL3L	54601708	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	5.067000	0.64357	2.275000	0.75901	0.513000	0.50165	GAC			0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056805.1		NM_019067		T	54584983	G	T	54584983	3	4	96	1	0	0	0	0	1	0	0	0	6552	1174	41	3	1615	3	GNL3L	23	54584983	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	299217	54584983	100685577	516	7301											
SPIN4	139886	broad.mit.edu	37	chrX	62570276	62570276	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcacaggagctcgcgccagGaccatacccttccattcatc	10	8	7	16	2	2	0	2	0	0	0	5	2	3	2	4	2	2	1	4	2	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:62570276G>T	ENST00000335144.3	-	1	942	c.423C>A	c.(421-423)gtC>gtA	p.V141V	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Silent_p.V123V	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	141					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CTCGCGCCAGGACCATACCCT	0.478																																					p.V141V													.	SPIN4	29		0			c.C423A												130	127	128					X																	62570276		2102	4185	6287	SO:0001819	synonymous_variant	139886	exon1			CGCCAGGACCATA	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.423C>A	X.37:g.62570276G>T			153	0	0		249	0.02	4	NM_001012968	5	0	0	B3KX90|Q5JUL2	Silent	SNP	ENST00000335144.3	37	CCDS43964.1																																																																																					0.478	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001012968		T	62570276	G	T	62570276	2	4	96	1	0	0	0	0	0	0	0	1	15079	1161	41	3		3	SPIN4	23	62570276	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7985293	62570276	92700284	517	7302											
FAM123B	139285	broad.mit.edu	37	chrX	63412939	63412939	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaacctttgctccgTccccctccaaagaaactagg	10	9	6	16	1	0	2	0	0	0	2	4	2	4	2	6	1	3	1	6	1	4	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:63412939T>C	ENST00000330258.3	-	2	500	c.228A>G	c.(226-228)ggA>ggG	p.G76G	AMER1_ENST00000374869.3_Silent_p.G76G|AMER1_ENST00000403336.1_Silent_p.G76G	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	76					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTTTGCTCCGTCCCCCTCCAA	0.537																																					p.G76G													.	.			67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.A228G												129	102	111					X																	63412939		2203	4300	6503	SO:0001819	synonymous_variant	139285	exon2			GCTCCGTCCCCCT	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.228A>G	X.37:g.63412939T>C			101	0.0099009901	1		270	0.03	7	NM_152424	0		0	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																					0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316584.1		NM_152424		C	63412939	T	C	63412939	2	2	96	1	0	0	0	0	0	0	0	1	5433	1654	58	4		4	FAM123B	23	63412939	Silent	SNP	T	TCGA-VF-A8A8-01A-11D-A435-10	842663	63412939	91857621	518	7303											
PJA1	64219	broad.mit.edu	37	chrX	68382256	68382257	+	Frame_Shift_Ins	INS	-	-	A																															tcgtcatcatcatcagtatcINSaaaaaaaatttttggtttca																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:68382256_68382257insA	ENST00000361478.1	-	2	1202_1203	c.825_826insT	c.(823-828)tttgatfs	p.D276fs	PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Frame_Shift_Ins_p.D276fs|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Frame_Shift_Ins_p.D221fs	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	276	Poly-Asp.				protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCATCAGTATCAAAAAAAATTT	0.495																																					p.D276_T277delinsX													.	PJA1	106		0			c.826_827insT																																									SO:0001589	frameshift_variant	64219	exon2			CAGTATCAAAAAA	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.826dupT	X.37:g.68382264_68382264dupA	ENSP00000355014:p.Asp276fs		94	0	0		181	0.04	7	NM_145119	73	0	0	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Frame_Shift_Ins	INS	ENST00000361478.1	37	CCDS14393.1																																																																																					0.495	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000057031.2		NM_145119		A	68382257	-	A	68382256	7	5	96	1	0	1	1	0	0	0	0	0	11978	826	29	0	1109	0	PJA1	23	68382256	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	4969317	68382256	86888304	519	7304											
P2RY4	5030	broad.mit.edu	37	chrX	69478692	69478692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaatggtgcgggtgatgtgGaaaggcacgaagcagacagc	13	6	16	6	2	0	2	0	1	0	1	0	4	0	3	0	4	3	2	0	4	4	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:69478692G>T	ENST00000374519.2	-	1	962	c.783C>A	c.(781-783)ttC>ttA	p.F261L		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	261					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGGTGATGTGGAAAGGCACGA	0.562																																					p.F261L													.	P2RY4	39		0			c.C783A												66	53	57					X																	69478692		2203	4300	6503	SO:0001583	missense	5030	exon1			GATGTGGAAAGGC	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.783C>A	X.37:g.69478692G>T	ENSP00000363643:p.Phe261Leu		81	0	0		186	0.02	3	NM_002565	0		0	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586644	0.66105	.	.	ENSG00000186912	ENST00000374519	T	0.20200	2.09	4.53	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.43033	0.1229	M	0.80422	2.495	0.52099	D	0.99994	D	0.89917	1.0	D	0.97110	1.0	T	0.21827	-1.0234	10	0.66056	D	0.02	.	6.8316	0.23913	0.2949:0.0:0.7051:0.0	.	261	P51582	P2RY4_HUMAN	L	261	ENSP00000363643:F261L	ENSP00000363643:F261L	F	-	3	2	P2RY4	69395417	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.935000	0.40173	0.384000	0.24942	0.589000	0.80489	TTC			0.562	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057058.2		NM_002565		T	69478692	G	T	69478692	3	4	96	1	0	0	0	0	1	0	0	0	11370	1165	41	3	318	3	P2RY4	23	69478692	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1096436	69478692	85791868	520	7305											
SLC7A3	84889	broad.mit.edu	37	chrX	70146767	70146767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacaatttggccagagagtgGagtggggatggagttgagtg	10	9	19	3	0	0	2	0	1	0	1	0	7	0	5	1	5	0	1	1	5	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:70146767G>T	ENST00000374299.3	-	9	1555	c.1411C>A	c.(1411-1413)Cca>Aca	p.P471T	SLC7A3_ENST00000298085.4_Missense_Mutation_p.P471T			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	471					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGAGAGTGGAGTGGGGATG	0.488																																					p.P471T													.	SLC7A3	76		0			c.C1411A												111	97	102					X																	70146767		2203	4300	6503	SO:0001583	missense	84889	exon9			AGAGTGGAGTGGG	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1411C>A	X.37:g.70146767G>T	ENSP00000363417:p.Pro471Thr		121	0	0		261	0.02	5	NM_032803	454	0	0	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	G	0.620	-0.821454	0.02755	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.87887	-2.31;-2.31	5.31	2.48	0.30137	.	0.641133	0.16845	N	0.197186	D	0.82282	0.5003	L	0.60845	1.875	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.63932	-0.6525	10	0.15952	T	0.53	.	10.9363	0.47247	0.0:0.5346:0.3265:0.1389	.	471	Q8WY07	CTR3_HUMAN	T	471	ENSP00000363417:P471T;ENSP00000298085:P471T	ENSP00000298085:P471T	P	-	1	0	SLC7A3	70063492	0.001000	0.12720	0.075000	0.20258	0.618000	0.37518	0.754000	0.26390	0.199000	0.20427	-0.346000	0.07831	CCA			0.488	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057080.1		NM_032803		T	70146767	G	T	70146767	3	4	96	1	0	0	0	0	1	0	0	0	14721	1174	41	3	464	3	SLC7A3	23	70146767	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	668075	70146767	85123793	521	7306											
ZMYM3	9203	broad.mit.edu	37	chrX	70470506	70470506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcgaggagagcgccggggCcggaatggcacaaagtcctc	10	4	16	11	4	0	1	0	0	0	1	2	4	1	2	3	5	2	1	3	5	2	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:70470506C>T	ENST00000353904.2	-	5	1036	c.849G>A	c.(847-849)cgG>cgA	p.R283R	ZMYM3_ENST00000373982.1_Silent_p.R285R|ZMYM3_ENST00000314425.5_Silent_p.R283R|ZMYM3_ENST00000373988.1_Silent_p.R285R|ZMYM3_ENST00000373998.1_Silent_p.R283R|ZMYM3_ENST00000373984.3_Silent_p.R285R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Silent_p.R283R|ZMYM3_ENST00000373978.1_Intron	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	283					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCGCCGGGGCCGGAATGGCA	0.562																																					p.R283R													.	ZMYM3	137		0			c.G849A												53	39	43					X																	70470506		2203	4300	6503	SO:0001819	synonymous_variant	9203	exon5			CCGGGGCCGGAAT	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.849G>A	X.37:g.70470506C>T			131	0	0		237	0.01	3	NM_005096	22	0	0	D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	CCDS14409.1																																																																																					0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000057154.1		NM_201599		T	70470506	C	T	70470506	2	4	96	1	0	0	0	0	0	0	0	1	17724	726	26	2		2	ZMYM3	23	70470506	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	323739	70470506	84800054	522	7307											
RPS6KA6	27330	broad.mit.edu	37	chrX	83360833	83360833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgggatgttgtccatagcGcatcaatatttcaatctctt	9	16	8	8	1	3	0	2	0	1	0	5	1	4	1	1	1	1	3	1	1	4	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:83360833G>A	ENST00000262752.2	-	16	1424	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R473C|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	473	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R473C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGTCCATAGCGCATCAATATT	0.313																																					p.R473C													.	RPS6KA6	116		1	Substitution - Missense(1)	large_intestine(1)	c.C1417T												112	101	104					X																	83360833		2203	4293	6496	SO:0001583	missense	27330	exon16			CATAGCGCATCAA	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1417C>T	X.37:g.83360833G>A	ENSP00000262752:p.Arg473Cys		327	0	0		530	0.01	5	NM_014496	0		0	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182943	0.78677	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.67698	-0.28;-0.28	4.96	4.09	0.47781	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	0.79639	0.4480	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.81072	-0.1098	10	0.72032	D	0.01	.	12.68	0.56916	0.0828:0.0:0.9172:0.0	.	473;473	B7ZL90;Q9UK32	.;KS6A6_HUMAN	C	473	ENSP00000262752:R473C;ENSP00000440830:R473C	ENSP00000262752:R473C	R	-	1	0	RPS6KA6	83247489	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.758000	0.85224	0.985000	0.38656	0.544000	0.68410	CGC			0.313	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057372.1		NM_014496		A	83360833	G	A	83360833	3	1	96	1	0	0	0	0	1	0	0	0	13678	1087	38	1	848	1	RPS6KA6	23	83360833	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	12890327	83360833	71909727	523	7308											
SATL1	340562	broad.mit.edu	37	chrX	84362715	84362715	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgggactggttggctcagGcctgtttgccatgtgcctgg	3	12	15	11	1	1	0	1	0	0	0	2	1	1	1	3	5	2	3	3	5	0	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:84362715G>T	ENST00000395409.3	-	1	1259	c.699C>A	c.(697-699)ggC>ggA	p.G233G	SATL1_ENST00000332921.5_Silent_p.G233G|SATL1_ENST00000509231.1_Silent_p.G420G			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	233	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.G420G(2)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTGGCTCAGGCCTGTTTGCC	0.577																																					p.G420G													.	SATL1	70		2	Substitution - coding silent(2)	lung(2)	c.C1260A												265	188	214					X																	84362715		2203	4300	6503	SO:0001819	synonymous_variant	340562	exon1			GCTCAGGCCTGTT	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.699C>A	X.37:g.84362715G>T			154	0	0		284	0.01	4	NM_001012980	0		0	A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37																																																																																						0.577	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				XM_291339		T	84362715	G	T	84362715	2	4	96	1	0	0	0	0	0	0	0	1	13878	1190	42	2		2	SATL1	23	84362715	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1001882	84362715	70907845	524	7309											
SATL1	340562	broad.mit.edu	37	chrX	84363309	84363309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttatgcctggttggctgggGacttgctggctcatgcctgg	3	13	15	10	0	1	0	1	0	0	0	1	1	1	1	2	6	3	4	2	6	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:84363309G>T	ENST00000395409.3	-	1	665	c.105C>A	c.(103-105)gtC>gtA	p.V35V	SATL1_ENST00000332921.5_Silent_p.V35V|SATL1_ENST00000509231.1_Silent_p.V222V			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	35	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTGGCTGGGGACTTGCTGGC	0.527																																					p.V222V													.	SATL1	70		0			c.C666A												259	179	206					X																	84363309		2203	4300	6503	SO:0001819	synonymous_variant	340562	exon1			GCTGGGGACTTGC	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.105C>A	X.37:g.84363309G>T			113	0	0		174	0.02	3	NM_001012980	0		0	A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37																																																																																						0.527	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				XM_291339		T	84363309	G	T	84363309	2	4	96	1	0	0	0	0	0	0	0	1	13878	1161	41	3		3	SATL1	23	84363309	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	594	84363309	70907251	525	7310											
NXF5	55998	broad.mit.edu	37	chrX	101096670	101096671	+	Frame_Shift_Ins	INS	-	-	T																															ggttctcatcatcataaatcINSttataactgacatccttcaa																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:101096670_101096671insT	ENST00000361708.2	-	5	574_575	c.215_216insA	c.(214-216)aagfs	p.K72fs	NXF5_ENST00000473265.2_Frame_Shift_Ins_p.K72fs|NXF5_ENST00000537026.1_Frame_Shift_Ins_p.K72fs			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	72	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CATCATAAATCTTATAACTGAC	0.49																																					p.K72fs													.	NXF5	65		0			c.216_217insA																																									SO:0001589	frameshift_variant	55998	exon5			ATAAATCTTATAA	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.216dupA	X.37:g.101096672_101096672dupT	ENSP00000355286:p.Lys72fs		337	0	0		659	0.01	5	NM_032946	0		0	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Frame_Shift_Ins	INS	ENST00000361708.2	37																																																																																						0.49	NXF5-201	KNOWN	basic	protein_coding	protein_coding						T	101096671	-	T	101096670	7	5	96	1	0	1	1	0	0	0	0	0	10803	912	32	0	929	0	NXF5	23	101096670	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	16733361	101096670	54173890	526	7311											
MCART6	401612	broad.mit.edu	37	chrX	103349555	103349555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaaggggctgagtgccacgGcctccaccacgccagacatg	10	4	12	15	2	0	2	0	1	0	1	1	2	1	2	5	3	1	1	5	3	1	0			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:103349555G>T	ENST00000357421.4	-	2	566	c.386C>A	c.(385-387)gCc>gAc	p.A129D		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	129					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GAGTGCCACGGCCTCCACCAC	0.572																																					p.A129D													.	.			0			c.C386A												74	78	77					X																	103349555		2203	4299	6502	SO:0001583	missense	401612	exon2			GCCACGGCCTCCA		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.386C>A	X.37:g.103349555G>T	ENSP00000361681:p.Ala129Asp		68	0.0147058824	1		123	0.02	3	NM_001012755	0		0	B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	18.19	3.569754	0.65765	.	.	ENSG00000176274	ENST00000357421	T	0.79352	-1.26	4.18	3.29	0.37713	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.82716	2.605	0.53688	D	0.999978	D	0.76494	0.999	D	0.75020	0.985	D	0.87062	0.2154	10	0.87932	D	0	-48.1791	10.1894	0.43017	0.0:0.0:0.7995:0.2005	.	129	Q5H9E4	MCAR6_HUMAN	D	129	ENSP00000361681:A129D	ENSP00000361681:A129D	A	-	2	0	MCART6	103236211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.724000	0.74747	0.864000	0.35578	0.594000	0.82650	GCC			0.572	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057761.1		NM_001012755		T	103349555	G	T	103349555	3	4	96	1	0	0	0	0	1	0	0	0	9387	1203	42	2	541	2	MCART6	23	103349555	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	2252885	103349555	51921005	527	7312											
NXT2	55916	broad.mit.edu	37	chrX	108784834	108784834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcaatatgttagattGccaaccagttcatggtaaga	13	11	9	8	0	2	2	2	0	0	2	2	2	2	2	3	2	2	3	3	2	5	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:108784834G>A	ENST00000372106.1	+	3	364	c.233G>A	c.(232-234)tGc>tAc	p.C78Y	NXT2_ENST00000218004.1_Missense_Mutation_p.C133Y|NXT2_ENST00000372107.1_Missense_Mutation_p.C50Y|NXT2_ENST00000372103.1_Missense_Mutation_p.C50Y	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	78	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATGTTAGATTGCCAACCAGTT	0.383																																					p.C133Y													.	NXT2	16		0			c.G398A												121	105	111					X																	108784834		2203	4300	6503	SO:0001583	missense	55916	exon4			TAGATTGCCAACC	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.233G>A	X.37:g.108784834G>A	ENSP00000361178:p.Cys78Tyr		127	0	0		265	0.02	4	NM_018698	15	0	0	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	ENST00000372106.1	37	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917117	0.73098	.	.	ENSG00000101888	ENST00000218004;ENST00000372107;ENST00000372106;ENST00000372103	.	.	.	5.33	5.33	0.75918	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.86953	2.85	0.80722	D	1	P;D	0.53619	0.574;0.961	P;P	0.52598	0.477;0.703	T	0.82224	-0.0563	9	0.66056	D	0.02	.	18.729	0.91728	0.0:0.0:1.0:0.0	.	78;133	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	Y	133;50;78;50	.	ENSP00000218004:C133Y	C	+	2	0	NXT2	108671490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.562000	0.86427	0.600000	0.82982	TGC			0.383	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057886.1		NM_018698		A	108784834	G	A	108784834	3	1	96	1	0	0	0	0	1	0	0	0	10812	1319	46	2	412	2	NXT2	23	108784834	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	5435279	108784834	46485726	528	7313											
ALG13	79868	broad.mit.edu	37	chrX	110970932	110970933	+	Frame_Shift_Ins	INS	-	-	T																															atggacagatgcccaggggcINSttggaagaaactattacttt																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:110970932_110970933insT	ENST00000394780.3	+	18	2193_2194	c.2181_2182insT	c.(2182-2184)ttgfs	p.L728fs	ALG13_ENST00000251943.4_Frame_Shift_Ins_p.L624fs|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	728					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						TGCCCAGGGGCTTGGAAGAAAC	0.426																																					p.G727fs													.	ALG13	230		0			c.2181_2182insT																																									SO:0001589	frameshift_variant	79868	exon18			CAGGGGCTTGGAA	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.2183dupT	X.37:g.110970934_110970934dupT	ENSP00000378260:p.Leu728fs		217	0	0		369	0.02	7	NM_001099922	9	0	0	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Frame_Shift_Ins	INS	ENST00000394780.3	37	CCDS55477.1																																																																																					0.426	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272895.1		NM_018466		T	110970933	-	T	110970932	7	5	96	1	0	1	1	0	0	0	0	0	515	784	28	0	2393	0	ALG13	23	110970932	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	2186098	110970932	44299628	529	7314											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686305	125686305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgaacaccttgttgaccGtgcccagctccagttggcgc	7	8	11	15	4	0	1	0	1	0	0	1	2	1	1	4	1	3	3	4	1	1	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:125686305G>A	ENST00000371126.1	-	1	529	c.287C>T	c.(286-288)aCg>aTg	p.T96M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	96								p.T96R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTTGTTGACCGTGCCCAGCTC	0.657																																					p.T96M													.	DCAF12L1	135		1	Substitution - Missense(1)	lung(1)	c.C287T												92	71	78					X																	125686305		2203	4300	6503	SO:0001583	missense	139170	exon1			TTGACCGTGCCCA	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.287C>T	X.37:g.125686305G>A	ENSP00000360167:p.Thr96Met		153	0	0		292	0.01	3	NM_178470	1	0	0	Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	g	14.91	2.675486	0.47781	.	.	ENSG00000198889	ENST00000371126	T	0.63580	-0.05	3.54	3.54	0.40534	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.69780	0.3149	L	0.47716	1.5	0.20489	N	0.999892	D	0.89917	1.0	D	0.63957	0.92	T	0.58578	-0.7612	9	0.42905	T	0.14	.	12.2392	0.54532	0.0:0.0:1.0:0.0	.	96	Q5VU92	DC121_HUMAN	M	96	ENSP00000360167:T96M	ENSP00000360167:T96M	T	-	2	0	DCAF12L1	125513986	1.000000	0.71417	0.267000	0.24556	0.545000	0.35147	1.965000	0.40471	2.036000	0.60181	0.498000	0.49722	ACG			0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058186.1		NM_178470		A	125686305	G	A	125686305	3	1	96	1	0	0	0	0	1	0	0	0	4266	1145	40	1	1108	1	DCAF12L1	23	125686305	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	14715373	125686305	29584255	530	7315											
GPR112	139378	broad.mit.edu	37	chrX	135405334	135405334	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaacctgacacctcatggGactctgttcctagggcactt	9	10	8	14	0	2	1	1	1	1	0	3	2	3	2	3	2	1	2	3	2	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:135405334G>T	ENST00000394143.1	+	5	759	c.468G>T	c.(466-468)ggG>ggT	p.G156G	GPR112_ENST00000287534.4_Silent_p.G93G|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Silent_p.G156G|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	156					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)					CACCTCATGGGACTCTGTTCC	0.463																																					p.G156G													.	GPR112	459		0			c.G468T												173	150	158					X																	135405334		2203	4300	6503	SO:0001819	synonymous_variant	139378	exon5			TCATGGGACTCTG	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.468G>T	X.37:g.135405334G>T			128	0	0		222	0.02	4	NM_153834	0		0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																					0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000286639.1				T	135405334	G	T	135405334	2	4	96	1	0	0	0	0	0	0	0	1	6643	1161	41	3		3	GPR112	23	135405334	Silent	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	9719029	135405334	19865226	531	7316											
SLITRK4	139065	broad.mit.edu	37	chrX	142717464	142717464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaagatgtaaacaggcagGctctttaggagattattgtt	14	12	11	4	0	1	2	0	0	1	2	1	4	1	2	0	3	1	4	0	3	6	6			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:142717464G>T	ENST00000381779.4	-	2	1686	c.1461C>A	c.(1459-1461)agC>agA	p.S487R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S487R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S487R	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	487						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAACAGGCAGGCTCTTTAGGA	0.423																																					p.S487R													.	SLITRK4	162		0			c.C1461A												84	90	88					X																	142717464		2203	4300	6503	SO:0001583	missense	139065	exon2			AGGCAGGCTCTTT	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1461C>A	X.37:g.142717464G>T	ENSP00000371198:p.Ser487Arg		109	0	0		258	0.01	3	NM_001184750	5	0	0	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076274	0.36662	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.55052	0.54;0.54;0.54	5.49	4.61	0.57282	.	0.043855	0.85682	D	0.000000	T	0.52008	0.1708	L	0.39898	1.24	0.58432	D	0.99999	P	0.50528	0.936	P	0.54706	0.759	T	0.54456	-0.8291	10	0.62326	D	0.03	-11.823	5.8291	0.18570	0.2621:0.0:0.7379:0.0	.	487	Q8IW52	SLIK4_HUMAN	R	487	ENSP00000371198:S487R;ENSP00000349400:S487R;ENSP00000336627:S487R	ENSP00000336627:S487R	S	-	3	2	SLITRK4	142545130	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	0.639000	0.24690	2.445000	0.82738	0.600000	0.82982	AGC			0.423	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058617.1		NM_173078		T	142717464	G	T	142717464	3	4	96	1	0	0	0	0	1	0	0	0	14768	1194	42	2	1056	2	SLITRK4	23	142717464	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	7312130	142717464	12553096	532	7317											
MAGEA11	4110	broad.mit.edu	37	chrX	148797652	148797653	+	Frame_Shift_Ins	INS	-	-	A																															ttgcctgctgctgagtcaccINSaagtcctccccagagtcctc																										TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:148797652_148797653insA	ENST00000355220.5	+	5	608_609	c.506_507insA	c.(505-510)ccaagtfs	p.S170fs	MAGEA11_ENST00000333104.4_Frame_Shift_Ins_p.S141fs	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	170						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)					GCTGAGTCACCAAGTCCTCCCC	0.569																																					p.P169fs													.	MAGEA11	86		0			c.506_507insA																																									SO:0001589	frameshift_variant	4110	exon5			AGTCACCAAGTCC		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.508dupA	X.37:g.148797654_148797654dupA	ENSP00000347358:p.Ser170fs		194	0	0		376	0.02	7	NM_005366	2	0	0	Q5ETU4|Q6ZRZ5	Frame_Shift_Ins	INS	ENST00000355220.5	37	CCDS48180.1																																																																																					0.569	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058725.4		NM_005366		A	148797653	-	A	148797652	7	5	96	1	0	1	1	0	0	0	0	0	9181	594	21	0	533	0	MAGEA11	23	148797652	Frame_Shift_Ins	INS	-	TCGA-VF-A8A8-01A-11D-A435-10	6080188	148797652	6472908	533	7318											
CNGA2	1260	broad.mit.edu	37	chrX	150908187	150908187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggcgacaaggatggCgaggacaaaggcaccaagta	16	2	15	8	2	0	0	0	0	0	0	0	4	0	2	1	6	0	3	1	6	5	1			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:150908187C>T	ENST00000329903.4	+	3	390	c.357C>T	c.(355-357)ggC>ggT	p.G119G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	119					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)					ACAAGGATGGCGAGGACAAAG	0.537																																					p.G119G													.	CNGA2	136		0			c.C357T												125	95	105					X																	150908187		2203	4300	6503	SO:0001819	synonymous_variant	1260	exon4			GGATGGCGAGGAC	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.357C>T	X.37:g.150908187C>T			90	0	0		148	0.03	4	NM_005140	0		0	A0AVD0	Silent	SNP	ENST00000329903.4	37	CCDS14701.1																																																																																					0.537	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060888.1		NM_005140		T	150908187	C	T	150908187	2	4	96	1	0	0	0	0	0	0	0	1	3599	755	27	1		1	CNGA2	23	150908187	Silent	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	2110535	150908187	4362373	534	7319											
PNMA5	114824	broad.mit.edu	37	chrX	152159584	152159584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcagacacttgccatatggGcattatctcagtgacctgct	9	12	8	12	0	2	2	2	1	1	1	3	2	2	2	2	1	2	2	2	1	2	3			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:152159584G>T	ENST00000439251.1	-	2	997	c.559C>A	c.(559-561)Ccc>Acc	p.P187T	PNMA5_ENST00000452693.1_Missense_Mutation_p.P187T|PNMA5_ENST00000535214.1_Missense_Mutation_p.P187T|PNMA5_ENST00000361887.5_Missense_Mutation_p.P187T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	187					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)					TGCCATATGGGCATTATCTCA	0.532																																					p.P187T													.	PNMA5	63		0			c.C559A												83	71	75					X																	152159584		2203	4300	6503	SO:0001583	missense	114824	exon2			ATATGGGCATTAT	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.559C>A	X.37:g.152159584G>T	ENSP00000388850:p.Pro187Thr		91	0	0		148	0.02	3	NM_001103150	0		0	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	G	6.370	0.436335	0.12104	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	3.05	-0.205	0.13196	.	.	.	.	.	T	0.07007	0.0178	L	0.47190	1.495	0.09310	N	1	B	0.23316	0.083	B	0.28638	0.092	T	0.44329	-0.9335	9	0.22109	T	0.4	.	2.9881	0.05974	0.1609:0.0:0.3786:0.4605	.	187	Q96PV4	PNMA5_HUMAN	T	187	ENSP00000354834:P187T;ENSP00000445775:P187T;ENSP00000388850:P187T;ENSP00000392342:P187T	ENSP00000354834:P187T	P	-	1	0	PNMA5	151910240	0.030000	0.19436	0.001000	0.08648	0.046000	0.14306	0.043000	0.13971	-0.152000	0.11156	0.468000	0.43344	CCC			0.532	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060925.1		NM_052926		T	152159584	G	T	152159584	3	4	96	1	0	0	0	0	1	0	0	0	12173	1203	42	2	791	2	PNMA5	23	152159584	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	1251397	152159584	3110976	535	7320											
DUSP9	1852	broad.mit.edu	37	chrX	152914704	152914704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcttcagcagattcCaggccgagtgccctcacctg	8	7	12	14	1	2	1	2	0	0	1	3	3	3	2	4	3	2	2	4	3	0	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:152914704C>A	ENST00000342782.3	+	3	656	c.391C>A	c.(391-393)Cag>Aag	p.Q131K	DUSP9_ENST00000370167.4_Missense_Mutation_p.Q131K			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	131	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGATTCCAGGCCGAGTG	0.682																																					p.Q131K													.	DUSP9	41		0			c.C391A												25	29	27					X																	152914704		2141	4148	6289	SO:0001583	missense	1852	exon3			AGATTCCAGGCCG	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.391C>A	X.37:g.152914704C>A	ENSP00000345853:p.Gln131Lys		27	0	0		64	0.06	4	NM_001395	14	0	0	D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	c	19.55	3.848248	0.71603	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	T;T	0.41400	1.0;1.0	4.72	4.72	0.59763	Rhodanese-like (5);	0.175230	0.39274	N	0.001405	T	0.44350	0.1289	L	0.39514	1.22	0.42048	D	0.991108	P	0.46064	0.872	P	0.48873	0.593	T	0.35822	-0.9773	10	0.37606	T	0.19	.	15.6623	0.77197	0.0:1.0:0.0:0.0	.	131	Q99956	DUS9_HUMAN	K	131	ENSP00000359186:Q131K;ENSP00000345853:Q131K	ENSP00000345853:Q131K	Q	+	1	0	DUSP9	152567898	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.608000	0.61141	1.938000	0.56188	0.529000	0.55759	CAG			0.682	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061022.3		NM_001395		A	152914704	C	A	152914704	3	1	96	1	0	0	0	0	1	0	0	0	4837	595	21	3	397	3	DUSP9	23	152914704	Missense_Mutation	SNP	C	TCGA-VF-A8A8-01A-11D-A435-10	755120	152914704	2355856	536	7321											
G6PD	2539	broad.mit.edu	37	chrX	153760882	153760882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgtacacggcctcgttgGgctgcacgcggatcaccagc	6	8	14	13	4	1	0	1	0	0	0	2	1	1	1	2	4	3	4	2	4	1	2			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrX:153760882G>T	ENST00000393564.2	-	10	1299	c.1187C>A	c.(1186-1188)cCc>cAc	p.P396H	G6PD_ENST00000369620.2_Missense_Mutation_p.P442H|G6PD_ENST00000393562.2_Missense_Mutation_p.P426H|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	396			P -> L (in Bari; class I). {ECO:0000269|PubMed:7959695}.		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)					GGCCTCGTTGGGCTGCACGCG	0.597																																					p.P426H													.	G6PD	73		0			c.C1277A	GRCh37	CM940798	G6PD	M								81	69	73					X																	153760882		2203	4300	6503	SO:0001583	missense	2539	exon10			TCGTTGGGCTGCA	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.1187C>A	X.37:g.153760882G>T	ENSP00000377194:p.Pro396His		96	0	0		230	0.03	6	NM_000402	209	0.01	2	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889794	0.72524	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99932	-8.23;-8.23;-8.23	5.82	5.82	0.92795	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.056776	0.64402	D	0.000001	D	0.99943	0.9975	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96008	0.8999	10	0.87932	D	0	.	16.3144	0.82913	0.0:0.0:1.0:0.0	.	396;426	P11413;P11413-3	G6PD_HUMAN;.	H	426;396;396;442	ENSP00000377192:P426H;ENSP00000377194:P396H;ENSP00000358633:P442H	ENSP00000291567:P396H	P	-	2	0	G6PD	153414076	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	9.202000	0.95026	2.457000	0.83068	0.597000	0.82753	CCC			0.597	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061170.3		NM_000402		T	153760882	G	T	153760882	3	4	96	1	0	0	0	0	1	0	0	0	6159	1232	43	3	376	3	G6PD	23	153760882	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	846178	153760882	1509678	537	7322											
USP9Y	8287	broad.mit.edu	37	chrY	14902338	14902338	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatgattcacttttttcAgattaaccaagttactcatg	14	16	4	7	0	3	2	3	1	0	1	3	2	3	2	1	0	2	1	1	0	5	7			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrY:14902338A>G	ENST00000338981.3	+	25	4506		c.e25-1		USP9Y_ENST00000426564.2_Splice_Site	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked						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						CACTTTTTTCAGATTAACCAA	0.348																																					.													.	USP9Y	49		0			c.3562-2A>G												61	58	59					Y																	14902338		592	1927	2519	SO:0001630	splice_region_variant	8287	exon25			TTTTTCAGATTAA	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.3562-1A>G	Y.37:g.14902338A>G			236	0	0		202	0.02	4	NM_004654	0		0	O14601	Splice_Site	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																					0.348	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088703.2		NM_004654	Intron	G	14902338	A	G	14902338	5	3	96	1	0	0	0	0	0	0	1	0	17115	202	7	4	3650	4	USP9Y	24	14902338	Splice_Site	SNP	A	TCGA-VF-A8A8-01A-11D-A435-10		14902338	44471228	538	7323											
DDX3Y	8653	broad.mit.edu	37	chrY	15026886	15026886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacagatctatgaggaaGccagaaaagtaaaatattca	18	9	8	6	0	2	3	1	1	1	2	2	4	2	4	1	1	2	2	1	1	8	5			TCGA-VF-A8A8-01A-11D-A435-10	TCGA-VF-A8A8-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ba322ae-bd9f-45e8-8ec4-c7fb54e5f18d	28cabae0-04dd-4dda-b578-da9b77c757d6	g.chrY:15026886G>T	ENST00000336079.3	+	9	956	c.850G>T	c.(850-852)Gcc>Tcc	p.A284S	DDX3Y_ENST00000463199.1_3'UTR|DDX3Y_ENST00000360160.4_Missense_Mutation_p.A284S	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	284	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					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						CTATGAGGAAGCCAGAAAAGT	0.343																																					p.A284S													.	DDX3Y	13		0			c.G850T												50	48	49					Y																	15026886		582	1924	2506	SO:0001583	missense	8653	exon9			GAGGAAGCCAGAA	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.850G>T	Y.37:g.15026886G>T	ENSP00000336725:p.Ala284Ser		153	0	0		100	0.03	3	NM_004660	16	0	0	B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	CCDS14782.1																																																																																					0.343	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088407.1		NM_004660		T	15026886	G	T	15026886	3	4	96	1	0	0	0	0	1	0	0	0	4361	971	34	2	884	2	DDX3Y	24	15026886	Missense_Mutation	SNP	G	TCGA-VF-A8A8-01A-11D-A435-10	124548	15026886	44346680	539	7324											
PIK3CD	5293	hgsc.bcm.edu;bcgsc.ca	37	chr1	9779982	9779982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtccttctgcaggacTgccccattgcctgggccaac	5	9	10	17	0	1	0	0	0	1	0	2	1	2	1	6	2	4	1	6	2	1	2			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr1:9779982T>C	ENST00000377346.4	+	10	1441	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R	PIK3CD_ENST00000536656.1_Missense_Mutation_p.C381R|PIK3CD_ENST00000543390.1_Missense_Mutation_p.C83R|PIK3CD_ENST00000361110.2_Missense_Mutation_p.C381R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	416	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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)	TCTGCAGGACTGCCCCATTGC	0.647																																					p.C416R													.	.			0			c.T1246C												133	120	124					1																	9779982		2203	4300	6503	SO:0001583	missense	5293	exon10			CAGGACTGCCCCA		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.1246T>C	1.37:g.9779982T>C	ENSP00000366563:p.Cys416Arg		140	0	0		118	0.09	11	NM_005026	35	0.34	12	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569189	0.45798	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.74906	0.3778	L	0.45581	1.43	0.80722	D	1	P;D;D	0.76494	0.907;0.999;0.983	P;D;P	0.70487	0.664;0.969;0.88	T	0.71856	-0.4466	10	0.25751	T	0.34	-40.0069	15.123	0.72460	0.0:0.0:0.0:1.0	.	416;381;416	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	R	381;416;381;381;83	ENSP00000446444:C381R;ENSP00000366563:C416R;ENSP00000354410:C381R;ENSP00000443811:C83R	ENSP00000353766:C381R	C	+	1	0	PIK3CD	9702569	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.179000	0.71974	1.975000	0.57531	0.379000	0.24179	TGC			0.647	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004235.1		NM_005026		C	9779982	T	C	9779982	3	2	97	1	0	0	0	0	1	0	0	0	11932	1580	55	4	1276	4	PIK3CD	1	9779982	Missense_Mutation	SNP	T	TCGA-VF-A8AA-01A-11D-A435-10		9779982	239470639	1	7325											
PRAMEF18	391003	bcgsc.ca;mdanderson.org	37	chr1	13474974	13474974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggacgtgtcattgccGtgaaagcagaaagtggtgag	11	9	14	7	2	1	3	1	2	0	1	2	4	2	4	2	2	2	1	2	2	2	1	rs201607561	byFrequency	TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr1:13474974G>A	ENST00000376126.2	-	3	1154	c.1155C>T	c.(1153-1155)caC>caT	p.H385H		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	385					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCATTGCCGTGAAAGCAGA	0.572													g|||	396	0.0790735	0.0061	0.0173	5008	,	,		15994	0.2659		0.0388	False		,,,				2504	0.0706				p.H385H													.	PRAMEF19	6		0			c.C1155T							G		81,4243		3,75,2084	30	33	32		1155	-1.3	0	1	dbSNP_134	32	371,8123		9,353,3885	no	coding-synonymous	PRAMEF18	NM_001099850.1		12,428,5969	AA,AG,GG		4.3678,1.8733,3.5263		385/480	13474974	452,12366	2162	4247	6409	SO:0001819	synonymous_variant	391003	exon3			ATTGCCGTGAAAG			1p36.21	2013-01-17			ENSG00000204491			"-"	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1155C>T	1.37:g.13474974G>A			700	0	0		670	0.04	24	NM_001099790	0		0		Silent	SNP	ENST00000376126.2	37	CCDS41258.1																																																																																					0.572	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008177.2		NM_001099850		A	13474974	G	A	13474974	2	1	97	1	0	0	0	0	0	0	0	1	12453	1136	40	1		1	PRAMEF18	1	13474974	Silent	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10	3694992	13474974	235775647	2	7326											
FAM46B	115572	bcgsc.ca	37	chr1	27332465	27332466	+	Missense_Mutation	DNP	GT	GT	AC																															ggcagccaggtgggataggcGtgagccaggagaggttgcac																								rs61737591|rs61737590	byFrequency	TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	GT	GT					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr1:27332465_27332466GT>AC	ENST00000289166.5	-	2	1412_1413	c.1247_1248AC>GT	c.(1246-1248)cAC>cGT	p.H416R		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	416										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		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;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGATAGGCGTGAGCCAGGAG	0.653																																					p.H416R													.	FAM46B	44		0			c.A1247G																																									SO:0001583	missense	115572	exon2			ATAGGCGTGAGCC	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.1247_1248delinsAC	1.37:g.27332465_27332466delinsAC	ENSP00000289166:p.His416Arg		226	0	0		218	0.04	9	NM_052943	582	0	0		Missense_Mutation	DNP	ENST00000289166.5	37	CCDS294.2																																																																																					0.653	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012347.2		NM_052943		AC	27332466	GT	AC	27332465	3	1	97	1	0	0	0	0	1	0	0	0	5579	1136	40	1	33	1	FAM46B	1	27332465	Missense_Mutation	DNP	GT	TCGA-VF-A8AA-01A-11D-A435-10	13857491	27332465	221918156	3	7327											
JAK1	3716	hgsc.bcm.edu	37	chr1	65330611	65330611	+	Frame_Shift_Del	DEL	T	T	-																															ttcttgtgtttattttccagTtttttccgcttcagtttatt																										TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr1:65330611delT	ENST00000342505.4	-	8	1283	c.1035delA	c.(1033-1035)aaafs	p.K345fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	345	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)	TATTTTCCAGTTTTTTCCGCT	0.343			Mis		ALL																																p.L346fs				Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.,1	JAK1	209		0			c.1036delC												136	125	128					1																	65330611		1825	4079	5904	SO:0001589	frameshift_variant	3716	exon8			TTCCAGTTTTTTC	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.1035delA	1.37:g.65330611delT	ENSP00000343204:p.Lys345fs		146	0	0		141	0.07	10	NM_002227	38	0	0	Q59GQ2|Q9UD26	Frame_Shift_Del	DEL	ENST00000342505.4	37	CCDS41346.1																																																																																					0.343	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025791.1		NM_002227		-	65330611	T	-	65330611	7	5	97	1	0	1	0	1	0	0	0	0	7952	1722	60	0	2501	0	JAK1	1	65330611	Frame_Shift_Del	DEL	T	TCGA-VF-A8AA-01A-11D-A435-10	37998146	65330611	183920010	4	7328											
MFF	56947	bcgsc.ca	37	chr2	228194480	228194481	+	Missense_Mutation	DNP	AG	AG	TT																															aaatgagtaaaggaacaagcAgtgacacatcactaggaagg																								rs3211098|rs3211097|rs386655869	byFrequency	TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr2:228194480_228194481AG>TT	ENST00000353339.3	+	3	460_461	c.19_20AG>TT	c.(19-21)AGt>TTt	p.S7F	MFF_ENST00000337110.7_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.S7F|MFF_ENST00000409565.1_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000409616.1_5'UTR	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	7			S -> C (in dbSNP:rs3211097).|S -> I (in dbSNP:rs3211098).		mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGGAACAAGCAGTGACACATCA	0.366																																					p.S7F													.	MFF	48		0			c.G20T																																									SO:0001583	missense	56947	exon3			ACAAGCAGTGACA	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	Exception_encountered	2.37:g.228194480_228194481delinsTT	ENSP00000302037:p.Ser7Phe		228	0	0		216	0.03	7	NM_020194	6	0	0	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	DNP	ENST00000353339.3	37	CCDS2465.1																																																																																					0.366	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256887.2		NM_020194		TT	228194481	AG	TT	228194480	3	4	97	1	0	0	0	0	1	0	0	0	9535	188	7	5	21	5	MFF	2	228194480	Missense_Mutation	DNP	AG	TCGA-VF-A8AA-01A-11D-A435-10		228194480	15004893	5	7329											
RARB	5915	bcgsc.ca	37	chr3	25502825	25502825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggggtcagcgcctgtgaggGatgtaaggtgagtattcaca	9	10	16	6	1	2	2	2	2	0	0	2	3	2	3	1	4	1	2	1	4	2	3			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr3:25502825G>A	ENST00000404969.1	+	2	320	c.320G>A	c.(319-321)gGa>gAa	p.G107E	RARB_ENST00000330688.4_Missense_Mutation_p.G100E|RARB_ENST00000458646.1_De_novo_Start_OutOfFrame|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_De_novo_Start_OutOfFrame			P10826	RARB_HUMAN	retinoic acid receptor, beta	107					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCCTGTGAGGGATGTAAGGTG	0.517																																					p.G100E													.	RARB	123		0			c.G299A												115	113	114					3																	25502825		2203	4300	6503	SO:0001583	missense	5915	exon2			GTGAGGGATGTAA	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.320G>A	3.37:g.25502825G>A	ENSP00000385865:p.Gly107Glu		75	0	0		73	0.07	5	NM_000965	34	0.06	2	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	G	32	5.187730	0.94923	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.98221	-4.8;-4.8;-4.8	5.71	5.71	0.89125	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	H	0.99169	4.455	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	D	0.97889	1.0296	10	0.87932	D	0	.	19.9109	0.97025	0.0:0.0:1.0:0.0	.	107;100	P10826;F1D8S6	RARB_HUMAN;.	E	107;107;107;100	ENSP00000373282:G107E;ENSP00000385865:G107E;ENSP00000332296:G100E	ENSP00000332296:G100E	G	+	2	0	RARB	25477829	1.000000	0.71417	0.988000	0.46212	0.935000	0.57460	9.869000	0.99810	2.723000	0.93209	0.644000	0.83932	GGA			0.517	RARB-201	KNOWN	basic	protein_coding	protein_coding				NM_000965, NM_016152		A	25502825	G	A	25502825	3	1	97	1	0	0	0	0	1	0	0	0	13076	1174	41	3	305	3	RARB	3	25502825	Missense_Mutation	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10		25502825	172519605	6	7330											
WDR48	57599	hgsc.bcm.edu;bcgsc.ca	37	chr3	39130788	39130788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgaaacagtgccacaatgGgtaattgacatcactgtgga	15	9	10	7	0	1	2	1	2	0	0	1	3	1	3	1	2	2	1	1	2	4	2			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr3:39130788G>T	ENST00000302313.5	+	16	1675	c.1647G>T	c.(1645-1647)tgG>tgT	p.W549C	WDR48_ENST00000396258.3_Missense_Mutation_p.W467C|WDR48_ENST00000544962.1_Missense_Mutation_p.W274C|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	549					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGCCACAATGGGTAATTGACA	0.388																																					p.W549C													.	.			0			c.G1647T												217	201	206					3																	39130788		2203	4300	6503	SO:0001583	missense	57599	exon16			ACAATGGGTAATT	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1647G>T	3.37:g.39130788G>T	ENSP00000307491:p.Trp549Cys		105	0	0		109	0.05	5	NM_020839	56	0	0	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862403	0.91511	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	D;D;D	0.99571	-2.52;-6.19;-2.68	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;1.0;1.0;1.0	D	0.97994	1.0356	10	0.87932	D	0	-8.3527	20.1634	0.98142	0.0:0.0:1.0:0.0	.	274;467;540;549	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	C	549;274;467	ENSP00000307491:W549C;ENSP00000445187:W274C;ENSP00000379557:W467C	ENSP00000307491:W549C	W	+	3	0	WDR48	39105792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.830000	0.99415	2.773000	0.95371	0.655000	0.94253	TGG			0.388	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342529.1		NM_020839		T	39130788	G	T	39130788	3	4	97	1	0	0	0	0	1	0	0	0	17325	1241	43	3	1709	3	WDR48	3	39130788	Missense_Mutation	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10	13627963	39130788	158891642	7	7331											
WDR19	57728	bcgsc.ca	37	chr4	39257506	39257506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagactatcaaagcattGccttatactttgaaggagaa	16	11	8	6	0	1	4	1	2	0	2	1	5	1	4	1	1	3	1	1	1	7	5			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr4:39257506G>T	ENST00000399820.3	+	27	3194	c.3040G>T	c.(3040-3042)Gcc>Tcc	p.A1014S	WDR19_ENST00000288634.7_Missense_Mutation_p.A854S	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1014					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TCAAAGCATTGCCTTATACTT	0.338																																					p.A1014S													.	WDR19	96		0			c.G3040T												63	60	61					4																	39257506		1861	4112	5973	SO:0001583	missense	57728	exon27			AGCATTGCCTTAT	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3040G>T	4.37:g.39257506G>T	ENSP00000382717:p.Ala1014Ser		86	0	0		69	0.07	5	NM_025132	21	0	0	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	35	5.456147	0.96223	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.84660	-1.8;-1.88	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94679	0.7863	10	0.72032	D	0.01	-14.9373	20.3184	0.98660	0.0:0.0:1.0:0.0	.	1014	Q8NEZ3	WDR19_HUMAN	S	1014;854	ENSP00000382717:A1014S;ENSP00000288634:A854S	ENSP00000288634:A854S	A	+	1	0	WDR19	38933901	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	9.323000	0.96364	2.807000	0.96579	0.549000	0.68633	GCC			0.338	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360689.1				T	39257506	G	T	39257506	3	4	97	1	0	0	0	0	1	0	0	0	17303	1319	46	2	3146	2	WDR19	4	39257506	Missense_Mutation	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10		39257506	151896770	8	7332											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55593603	55593603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccatgtatgaagtacagTggaaggttgttgaggagata	14	10	13	4	0	0	3	0	2	0	1	0	5	0	4	1	3	2	4	1	3	6	5	rs121913234|rs121913235		TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr4:55593603T>C	ENST00000288135.5	+	11	1766	c.1669T>C	c.(1669-1671)Tgg>Cgg	p.W557R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	557			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:15824741, ECO:0000269|PubMed:9438854}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W557_K558del(120)|p.W557R(28)|p.W557G(23)|p.W557_E561del(17)|p.Y553_K558>(8)|p.E554_K558del(8)|p.M552_W557del(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.Q556_V560del(6)|p.Y553_K558del(4)|p.W557del(4)|p.V555_K558del(3)|p.Y553_T574>S(3)|p.Y553_W557del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.W557_K558>E(2)|p.Q556_L576del(2)|p.K550_V559del(2)|p.W557_Q575del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.V555_G565del(1)|p.M552_W557>R(1)|p.Q556_W557del(1)|p.P551_K558del(1)|p.Q556_V559>H(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.W557_K558>S(1)|p.Q556_K558>HPCR(1)|p.E554_I571del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.Q556_N566>SNNLQLY(1)|p.M552_T574>TESA(1)|p.Q556_D572>PS(1)|p.Q556_D572del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.Q556_K558>H(1)|p.Q556_E561>HH(1)|p.W557_I571del(1)|p.Q556_K558>R(1)|p.Q556_W557>R(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.K550_W557del(1)|p.Q556_D572>H(1)|p.W557_V559>I(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAAGTACAGTGGAAGGTTGT	0.388		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.W557R			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,germ_cell_tumour,0,64	KIT	0	64	323	Deletion - In frame(233)|Substitution - Missense(51)|Complex - deletion inframe(34)|Complex - insertion inframe(3)|Deletion - Frameshift(2)	soft_tissue(308)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|genital_tract(1)	c.T1669C	GRCh37	CM005329	KIT	M	rs121913235							80	82	82					4																	55593603		2203	4300	6503	SO:0001583	missense	3815	exon11	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GTACAGTGGAAGG	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1669T>C	4.37:g.55593603T>C	ENSP00000288135:p.Trp557Arg		87	0	0		95	0.12	11	NM_000222	97	0.08	8	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382011	0.82792	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.95554	-3.74;-3.74	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000016	D	0.97974	0.9333	M	0.87617	2.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.991	D	0.98792	1.0736	10	0.87932	D	0	.	16.6003	0.84812	0.0:0.0:0.0:1.0	.	64;553;557	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	R	557;553	ENSP00000288135:W557R;ENSP00000390987:W553R	ENSP00000288135:W557R	W	+	1	0	KIT	55288360	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.880000	0.87243	2.319000	0.78375	0.533000	0.62120	TGG			0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				C	55593603	T	C	55593603	3	2	97	1	0	0	0	0	1	0	0	0	8344	1696	59	4	1711	4	KIT	4	55593603	Missense_Mutation	SNP	T	TCGA-VF-A8AA-01A-11D-A435-10	16336097	55593603	135560673	9	7333											
UGT2B7	7364	bcgsc.ca	37	chr4	69964337	69964338	+	Missense_Mutation	DNP	AT	AT	TC																															tcctggaattttcagtttccAtatccactcttaccaaatgt																								rs7438284|rs7439366|rs386675647	byFrequency	TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	AT	AT					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr4:69964337_69964338AT>TC	ENST00000508661.1	+	2	828_829	c.801_802AT>TC	c.(799-804)ccATat>ccTCat	p.Y268H	UGT2B7_ENST00000305231.7_Missense_Mutation_p.Y268H|UGT2B7_ENST00000509763.1_3'UTR			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	268			H -> Y (in allele UGT2B7*2; dbSNP:rs7439366). {ECO:0000269|PubMed:11186130, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15815621, ECO:0000269|Ref.3}.		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)	p.P267P(1)		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)	TTCAGTTTCCATATCCACTCTT	0.396																																					p.Y268H													.	UGT2B7	79		1	Substitution - coding silent(1)	prostate(1)	c.T802C	GRCh37	CM057512	UGT2B7	M	rs7439366																																				SO:0001583	missense	7364	exon2			GTTTCCATATCCA	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	Exception_encountered	4.37:g.69964337_69964338delinsTC	ENSP00000427659:p.Tyr268His		123	0	0		143	0.05	7	NM_001074	0		0	B2R810|Q6GTW0	Missense_Mutation	DNP	ENST00000508661.1	37																																																																																						0.396	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000362103.1		NM_001074		TC	69964338	AT	TC	69964337	3	4	97	1	0	0	0	0	1	0	0	0	16986	204	8	5	807	5	UGT2B7	4	69964337	Missense_Mutation	DNP	AT	TCGA-VF-A8AA-01A-11D-A435-10	14370734	69964337	121189939	10	7334											
OTUD4	54726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	146085375	146085375	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccgataaattataaaatcTttcctgaaaataacaattag	18	13	3	7	1	1	1	0	1	1	0	3	2	3	1	2	0	1	0	2	0	10	6			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr4:146085375T>A	ENST00000447906.2	-	5	532	c.345A>T	c.(343-345)aaA>aaT	p.K115N	OTUD4_ENST00000296579.6_Missense_Mutation_p.K50N|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.K50N|OTUD4_ENST00000509620.2_Missense_Mutation_p.K50N			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	115	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTATAAAATCTTTCCTGAAAA	0.279																																					p.K50N													.	.			0			c.A150T												10	10	10					4																	146085375		2085	4160	6245	SO:0001583	missense	54726	exon4			AAAATCTTTCCTG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.345A>T	4.37:g.146085375T>A	ENSP00000395487:p.Lys115Asn		174	0	0		136	0.12	16	NM_017493	16	0.19	3	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	T	19.71	3.878151	0.72294	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973;ENST00000509620;ENST00000296579;ENST00000504501	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.45	5.45	0.79879	Ovarian tumour, otubain (2);	0.000000	0.53938	D	0.000053	T	0.51483	0.1677	M	0.71581	2.175	0.50467	D	0.999873	D;D	0.67145	0.988;0.996	P;D	0.63957	0.827;0.92	T	0.48269	-0.9050	10	0.30854	T	0.27	-23.4416	15.1776	0.72927	0.0:0.0:0.0:1.0	.	115;115	G3V0I6;Q01804	.;OTUD4_HUMAN	N	50;115;50;50;50;50	ENSP00000409279:K50N;ENSP00000395487:K115N;ENSP00000425972:K50N;ENSP00000424192:K50N;ENSP00000296579:K50N;ENSP00000423453:K50N	ENSP00000296579:K50N	K	-	3	2	OTUD4	146304825	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.106000	0.31098	2.062000	0.61559	0.482000	0.46254	AAA			0.279	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000365117.2		NM_017493		A	146085375	T	A	146085375	3	1	97	1	0	0	0	0	1	0	0	0	11331	1606	56	5	3071	5	OTUD4	4	146085375	Missense_Mutation	SNP	T	TCGA-VF-A8AA-01A-11D-A435-10	76121038	146085375	45068901	11	7335											
CDKAL1	54901	bcgsc.ca	37	chr6	21065449	21065450	+	Missense_Mutation	DNP	CA	CA	TG																															tgcaaaaatggaacaagttcCagcacaagtggtaagatctt																								rs77152992|rs56087852	byFrequency	TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	CA	CA					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr6:21065449_21065450CA>TG	ENST00000378610.1	+	10	1236_1237	c.1226_1227CA>TG	c.(1225-1227)cCA>cTG	p.P409L	CDKAL1_ENST00000274695.4_Missense_Mutation_p.P409L|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P339L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	409					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.P409P(1)|p.P409Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GAACAAGTTCCAGCACAAGTGG	0.391																																					p.P409L													CDKAL1,NS,carcinoma,0,1	CDKAL1	55	1	2	Substitution - Missense(1)|Substitution - coding silent(1)	stomach(1)|lung(1)	c.A1227G																																									SO:0001583	missense	54901	exon12			AAGTTCCAGCACA	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	Exception_encountered	6.37:g.21065449_21065450delinsTG	ENSP00000367873:p.Pro409Leu		96	0	0		112	0.07	8	NM_017774	49	0	0	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	DNP	ENST00000378610.1	37	CCDS4546.1																																																																																					0.391	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039986.1		NM_017774		TG	21065450	CA	TG	21065449	3	4	97	1	0	0	0	0	1	0	0	0	3154	594	21	3	1264	3	CDKAL1	6	21065449	Missense_Mutation	DNP	CA	TCGA-VF-A8AA-01A-11D-A435-10		21065449	150049618	12	7336											
GFRAL	389400	hgsc.bcm.edu;bcgsc.ca	37	chr6	55216242	55216242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acattgcccagatgttggctTtttgtgactgtgctcaatct	7	16	9	9	0	2	2	1	1	1	1	2	2	2	2	1	1	2	3	1	1	1	4			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr6:55216242T>C	ENST00000340465.2	+	5	648	c.562T>C	c.(562-564)Ttt>Ctt	p.F188L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	188					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GATGTTGGCTTTTTGTGACTG	0.443																																					p.F188L													.	.			0			c.T562C												181	172	175					6																	55216242		2203	4300	6503	SO:0001583	missense	389400	exon5			TTGGCTTTTTGTG	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.562T>C	6.37:g.55216242T>C	ENSP00000343636:p.Phe188Leu		131	0	0		149	0.05	8	NM_207410	1	0	0	Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.479228	0.63849	.	.	ENSG00000187871	ENST00000340465	T	0.37915	1.17	5.75	3.37	0.38596	GDNF/GAS1 (2);	0.175156	0.50627	D	0.000110	T	0.12178	0.0296	N	0.20986	0.625	0.43222	D	0.995104	P	0.41978	0.767	B	0.40782	0.34	T	0.04140	-1.0974	10	0.33141	T	0.24	-8.6933	10.207	0.43118	0.0:0.1343:0.0:0.8657	.	188	Q6UXV0	GFRAL_HUMAN	L	188	ENSP00000343636:F188L	ENSP00000343636:F188L	F	+	1	0	GFRAL	55324201	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	3.175000	0.50855	0.536000	0.28733	0.528000	0.53228	TTT			0.443	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040995.2		NM_207410		C	55216242	T	C	55216242	3	2	97	1	0	0	0	0	1	0	0	0	6365	1841	64	4	580	4	GFRAL	6	55216242	Missense_Mutation	SNP	T	TCGA-VF-A8AA-01A-11D-A435-10	34150793	55216242	115898825	13	7337											
LAMA2	3908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	129785566	129785566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaacattttcttcgagtgCtcttctgatgtatcttgcca	8	16	7	10	1	4	2	0	1	4	1	5	3	4	2	1	0	3	2	1	0	2	6			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr6:129785566C>T	ENST00000421865.2	+	50	7173	c.7124C>T	c.(7123-7125)gCt>gTt	p.A2375V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2375	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		TCTTCGAGTGCTCTTCTGATG	0.428																																					p.A2375V													.	.			0			c.C7124T												269	219	236					6																	129785566		2203	4300	6503	SO:0001583	missense	3908	exon50			CGAGTGCTCTTCT	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.7124C>T	6.37:g.129785566C>T	ENSP00000400365:p.Ala2375Val		114	0	0		148	0.13	19	NM_000426	9	0.33	3	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756019	0.96898	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.81415	-1.49	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.200652	0.52532	D	0.000065	D	0.85544	0.5721	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.959	D	0.83659	0.0160	9	.	.	.	.	19.6113	0.95607	0.0:1.0:0.0:0.0	.	2376;2375	A6NF00;P24043	.;LAMA2_HUMAN	V	2375;2374;2375;393	ENSP00000400365:A2375V	.	A	+	2	0	LAMA2	129827259	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.394000	0.79862	2.618000	0.88619	0.655000	0.94253	GCT			0.428	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042180.1				T	129785566	C	T	129785566	3	4	97	1	0	0	0	0	1	0	0	0	8621	797	28	2	7322	2	LAMA2	6	129785566	Missense_Mutation	SNP	C	TCGA-VF-A8AA-01A-11D-A435-10	74569324	129785566	41329501	14	7338											
ANLN	54443	broad.mit.edu	37	chr7	36446171	36446171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatgcctcaatttccagctCtgtggtaagtcagtatcatt	10	15	7	9	0	4	0	3	0	1	0	5	0	5	0	2	1	2	3	2	1	4	5			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr7:36446171C>T	ENST00000265748.2	+	4	1090	c.869C>T	c.(868-870)tCt>tTt	p.S290F	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.S290F	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	290	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATTTCCAGCTCTGTGGTAAGT	0.428																																					p.S290F													.	ANLN	101		0			c.C869T												222	215	217					7																	36446171		2203	4300	6503	SO:0001583	missense	54443	exon4			CCAGCTCTGTGGT	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.869C>T	7.37:g.36446171C>T	ENSP00000265748:p.Ser290Phe		18	0	0		28	0.14	4	NM_018685	29	0.21	6	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496939	0.44352	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.03212	4.01;4.01	4.2	3.32	0.38043	.	0.659026	0.16308	N	0.220131	T	0.04092	0.0114	L	0.44542	1.39	0.44555	D	0.997514	P;P;P;P	0.43519	0.664;0.71;0.809;0.71	B;B;B;B	0.38954	0.156;0.149;0.286;0.149	T	0.47598	-0.9105	10	0.72032	D	0.01	-0.7616	7.653	0.28358	0.0:0.7404:0.1671:0.0925	.	167;290;290;290	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	F	290	ENSP00000265748:S290F;ENSP00000379380:S290F	ENSP00000265748:S290F	S	+	2	0	ANLN	36412696	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.015000	0.29963	1.371000	0.46172	0.650000	0.86243	TCT			0.428	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000218582.3		NM_018685		T	36446171	C	T	36446171	3	4	97	1	0	0	0	0	1	0	0	0	694	913	32	3	883	3	ANLN	7	36446171	Missense_Mutation	SNP	C	TCGA-VF-A8AA-01A-11D-A435-10		36446171	122692492	15	7339											
ZNF680	340252	ucsc.edu	37	chr7	63981631	63981631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctagtaaggtgtgaggaccGgttaaaagctttgccacatt	11	12	11	7	1	1	1	0	1	1	0	1	2	1	2	2	3	2	3	2	3	4	5			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr7:63981631G>A	ENST00000309683.6	-	4	1652	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TGTGAGGACCGGTTAAAAGCT	0.358																																					p.R501W													ZNF680,NS,carcinoma,+1,1	ZNF680	58	1	0			c.C1501T												65	69	67					7																	63981631		2203	4300	6503	SO:0001583	missense	340252	exon4			AGGACCGGTTAAA	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1501C>T	7.37:g.63981631G>A	ENSP00000309330:p.Arg501Trp		97	0	0		120	0.02	2	NM_178558	44	0.57	25	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.035027	0.54896	.	.	ENSG00000173041	ENST00000309683	T	0.58210	0.35	1.31	-2.46	0.06461	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51466	0.1676	L	0.45285	1.41	0.09310	N	1	D	0.89917	1.0	D	0.64877	0.93	T	0.41142	-0.9525	9	0.27082	T	0.32	.	2.0402	0.03549	0.2511:0.0:0.4566:0.2924	.	501	Q8NEM1	ZN680_HUMAN	W	501	ENSP00000309330:R501W	ENSP00000309330:R501W	R	-	1	2	ZNF680	63619066	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	0.133000	0.15912	-0.859000	0.04105	-0.359000	0.07587	CGG			0.358	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344568.1	rescued with RNA-seq	NM_178558		A	63981631	G	A	63981631	3	1	97	1	0	0	0	0	1	0	0	0	18110	1115	39	1	95	1	ZNF680	7	63981631	Missense_Mutation	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10	27535460	63981631	95157032	16	7340											
UBAC1	10422	ucsc.edu;bcgsc.ca	37	chr9	138830111	138830111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcccagctgcaccaccggGttatccaggatggcctgaaa	10	6	12	13	1	0	1	0	1	0	0	1	2	1	2	5	4	2	3	5	4	2	1			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr9:138830111G>T	ENST00000371756.3	-	9	1276	c.1059C>A	c.(1057-1059)aaC>aaA	p.N353K	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	353	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)		GCACCACCGGGTTATCCAGGA	0.612																																					p.N353K	NSCLC(78;973 1398 27381 29552 42415)												.	UBAC1	40		0			c.C1059A												123	113	117					9																	138830111		2203	4300	6503	SO:0001583	missense	10422	exon9			CACCGGGTTATCC	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.1059C>A	9.37:g.138830111G>T	ENSP00000360821:p.Asn353Lys		41	0	0		32	0.13	4	NM_016172	211	0	0	O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676623	0.67928	.	.	ENSG00000130560	ENST00000371756	T	0.25250	1.81	4.8	2.95	0.34219	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.10917	-1.0609	10	0.72032	D	0.01	-45.2288	9.668	0.39996	0.1688:0.0:0.8312:0.0	.	353	Q9BSL1	UBAC1_HUMAN	K	353	ENSP00000360821:N353K	ENSP00000360821:N353K	N	-	3	2	UBAC1	137969932	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	3.638000	0.54332	0.443000	0.26582	0.561000	0.74099	AAC			0.612	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055034.1		NM_016172		T	138830111	G	T	138830111	3	4	97	1	0	0	0	0	1	0	0	0	16858	1252	44	3	166	3	UBAC1	9	138830111	Missense_Mutation	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10		138830111	2383320	17	7341											
PAPSS2	9060	bcgsc.ca	37	chr10	89473069	89473069	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttctccattcgcaaaggTaaaaaaaaaaaaaaaaaaaa	25	8	3	5	1	1	0	0	0	1	0	3	0	1	0	1	1	0	2	1	1	12	4	rs375158238|rs367885911		TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr10:89473069T>A	ENST00000361175.4	+	3	750		c.e3+2		PAPSS2_ENST00000427144.2_Splice_Site|PAPSS2_ENST00000456849.1_Splice_Site	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.?(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TTCGCAAAGGTaaaaaaaaaa	0.458																																					.													PAPSS2,NS,lymphoid_neoplasm,0,2	PAPSS2	46	2	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.381+2T>A												33	31	32					10																	89473069		2203	4299	6502	SO:0001630	splice_region_variant	9060	exon3			CAAAGGTAAAAAA	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.381+2T>A	10.37:g.89473069T>A			90	0.0888888889	8		88	0.22	19	NM_004670	0		0	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Splice_Site	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122187	0.37436	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9515	0.52959	0.0:0.0693:0.0:0.9307	.	.	.	.	.	-1	.	.	.	+	.	.	PAPSS2	89463049	1.000000	0.71417	0.962000	0.40283	0.179000	0.23085	5.984000	0.70548	2.210000	0.71456	0.482000	0.46254	.			0.458	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049229.1			Intron	A	89473069	T	A	89473069	5	1	97	1	0	0	0	0	0	0	1	0	11452	1652	57	5	393	5	PAPSS2	10	89473069	Splice_Site	SNP	T	TCGA-VF-A8AA-01A-11D-A435-10		89473069	46061678	18	7342											
PIK3C2A	5286	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	17170258	17170258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacttttagaacatagctGccaacatctacttgattcaa	15	12	4	10	0	2	2	1	1	1	1	2	2	2	2	1	0	6	1	1	0	7	6			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr11:17170258G>A	ENST00000265970.7	-	4	1403	c.1404C>T	c.(1402-1404)ggC>ggT	p.G468G	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.G88G	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	468	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				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						GAACATAGCTGCCAACATCTA	0.343																																					p.G468G													.	.			0			c.C1404T												109	99	102					11																	17170258		2200	4293	6493	SO:0001819	synonymous_variant	5286	exon4			ATAGCTGCCAACA	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.1404C>T	11.37:g.17170258G>A			59	0	0		77	0.1	8	NM_002645	6	0.17	1	B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	CCDS7824.1																																																																																					0.343	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387553.1		NM_002645		A	17170258	G	A	17170258	2	1	97	1	0	0	0	0	0	0	0	1	11926	1306	46	2		2	PIK3C2A	11	17170258	Silent	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10		17170258	117836258	19	7343											
SCNN1A	6337	bcgsc.ca	37	chr12	6472752	6472753	+	Missense_Mutation	DNP	GC	GC	AA																															ggggtgcggcagagtcccccGcaggtcgcgacggctgcggg																								rs55859427|rs55797039	byFrequency	TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	GC	GC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr12:6472752_6472753GC>AA	ENST00000228916.2	-	3	638_639	c.540_541GC>TT	c.(538-543)ctGCgg>ctTTgg	p.R181W	SCNN1A_ENST00000396966.2_Missense_Mutation_p.R181W|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R181W|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R204W|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R240W|SCNN1A_ENST00000538979.1_Intron	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	181			R -> W (functional polymorphism; significant increase of amiloride- sensitive sodium currents; dbSNP:rs55797039). {ECO:0000269|PubMed:16207733, ECO:0000269|PubMed:19462466}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGAGTCCCCCGCAGGTCGCGAC	0.678																																					p.R240W													.	SCNN1A	54		0			c.G717T	GRCh37	CM055536	SCNN1A	M	rs55797039																																				SO:0001583	missense	6337	exon2			TCCCCCGCAGGTC	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.540_541delinsAA	12.37:g.6472752_6472753delinsAA	ENSP00000228916:p.Arg181Trp		33	0	0		81	0.1	8	NM_001159576	3	0	0	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	DNP	ENST00000228916.2	37	CCDS8543.1																																																																																					0.678	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399055.1				AA	6472753	GC	AA	6472752	3	1	97	1	0	0	0	0	1	0	0	0	13950	1086	38	1	1512	1	SCNN1A	12	6472752	Missense_Mutation	DNP	GC	TCGA-VF-A8AA-01A-11D-A435-10		6472752	127379143	20	7344											
HSP90B1	7184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	104336993	104336993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgttgccaaggaaggaGtgaagttcgatgaaagtgag	15	8	15	3	1	0	4	0	3	0	1	1	7	0	6	1	2	1	2	1	2	5	2			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr12:104336993G>C	ENST00000299767.5	+	13	1968	c.1786G>C	c.(1786-1788)Gtg>Ctg	p.V596L		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	596					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)	CAAGGAAGGAGTGAAGTTCGA	0.423																																					p.V596L													.	.			0			c.G1786C												71	73	72					12																	104336993		2203	4300	6503	SO:0001583	missense	7184	exon13			GAAGGAGTGAAGT	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.1786G>C	12.37:g.104336993G>C	ENSP00000299767:p.Val596Leu		80	0	0		97	0.11	11	NM_003299	2786	0.23	635	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	6.633	0.485196	0.12641	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.06142	3.34	5.85	4.97	0.65823	.	0.119952	0.56097	D	0.000025	T	0.01730	0.0055	N	0.00670	-1.27	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.37454	-0.9705	10	0.02654	T	1	.	10.5807	0.45255	0.0691:0.1327:0.7982:0.0	.	596	P14625	ENPL_HUMAN	L	596;346	ENSP00000299767:V596L	ENSP00000299767:V596L	V	+	1	0	HSP90B1	102861123	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.705000	0.61838	1.622000	0.50330	0.643000	0.83706	GTG			0.423	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407349.1		NM_003299		C	104336993	G	C	104336993	3	2	97	1	0	0	0	0	1	0	0	0	7418	1029	36	5	1836	5	HSP90B1	12	104336993	Missense_Mutation	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10	97864241	104336993	29514902	21	7345											
VPS33A	65082	bcgsc.ca	37	chr12	122723203	122723203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctattacacacggattggagGcaaactagtcttaacacctt	13	11	7	10	1	1	0	0	0	1	0	1	2	1	2	1	3	3	1	1	3	5	6			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr12:122723203G>A	ENST00000267199.4	-	10	1345	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	RP11-512M8.5_ENST00000535844.1_Silent_p.C372C	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	411					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGGATTGGAGGCAAACTAGTC	0.343																																					p.C411C													.	VPS33A	61		0			c.C1233T												185	175	178					12																	122723203		2203	4300	6503	SO:0001819	synonymous_variant	65082	exon10			TTGGAGGCAAACT	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1233C>T	12.37:g.122723203G>A			119	0	0		154	0.05	7	NM_022916	177	0	0	Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	CCDS9231.1																																																																																					0.343	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401607.2				A	122723203	G	A	122723203	2	1	97	1	0	0	0	0	0	0	0	1	17225	1195	42	2		2	VPS33A	12	122723203	Silent	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10	18386210	122723203	11128692	22	7346											
RHBDF1	64285	ucsc.edu	37	chr16	108653	108653	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagagcaccacagccaGcagcttgaagaaggcacgcc	14	2	13	12	1	0	3	0	1	0	2	0	5	0	4	3	2	4	4	3	2	3	1			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr16:108653G>A	ENST00000262316.6	-	18	2396	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	752					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACCACAGCCAGCAGCTTGAAG	0.607																																					p.L752L													.	RHBDF1	54		0			c.C2254T												48	53	51					16																	108653		2203	4300	6503	SO:0001819	synonymous_variant	64285	exon18			CAGCCAGCAGCTT	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2254C>T	16.37:g.108653G>A			51	0	0		53	0.09	5	NM_022450	22	0.27	6	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	CCDS32344.1																																																																																					0.607	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000134178.2		NM_022450		A	108653	G	A	108653	2	1	97	1	0	0	0	0	0	0	0	1	13342	962	34	2		2	RHBDF1	16	108653	Silent	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10		108653	90246100	23	7347											
LUC7L	55692	bcgsc.ca	37	chr16	239209	239209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacgggttcagatctcgccGgcctccttctcttctgacct	5	12	9	15	3	4	3	1	1	3	2	7	3	5	3	4	2	0	1	4	2	0	3	rs535303746		TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr16:239209G>A	ENST00000293872.8	-	10	1214	c.1104C>T	c.(1102-1104)gcC>gcT	p.A368A	LUC7L_ENST00000337351.4_3'UTR|LA16c-OS12.2_ENST00000595428.1_lincRNA|LUC7L_ENST00000397783.1_3'UTR	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	368					mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				AGATCTCGCCGGCCTCCTTCT	0.537													G|||	1	0.000199681	0	0	5008	,	,		17071	0.001		0	False		,,,				2504	0				p.A368A													.	LUC7L	46		0			c.C1104T												113	128	123					16																	239209		2203	4300	6503	SO:0001819	synonymous_variant	55692	exon10			CTCGCCGGCCTCC	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"LUC7 (S. cerevisiae)-like"				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.1104C>T	16.37:g.239209G>A			43	0	0		66	0.08	5	NM_201412	218	0	1	B8ZZ13|Q96S32|Q9NPH4	Silent	SNP	ENST00000293872.8	37	CCDS32348.1																																																																																					0.537	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000134239.1				A	239209	G	A	239209	2	1	97	1	0	0	0	0	0	0	0	1	9098	1103	39	1		1	LUC7L	16	239209	Silent	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10	130556	239209	90115544	24	7348											
CCDC102A	92922	ucsc.edu	37	chr16	57550226	57550226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcagcctgggccagCtccttcttgagctcctccac	4	11	8	18	1	2	1	1	1	1	0	7	1	6	1	6	1	3	2	6	1	0	2			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr16:57550226C>T	ENST00000258214.2	-	7	1644	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	466										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CCTGGGCCAGCTCCTTCTTGA	0.667																																					p.E466E													.	CCDC102A	22		0			c.G1398A												65	50	55					16																	57550226		2198	4300	6498	SO:0001819	synonymous_variant	92922	exon7			GGCCAGCTCCTTC	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1398G>A	16.37:g.57550226C>T			34	0	0		27	0.07	2	NM_033212	57	0.26	15	Q9BT74	Silent	SNP	ENST00000258214.2	37	CCDS10784.1																																																																																					0.667	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257348.1		NM_033212		T	57550226	C	T	57550226	2	4	97	1	0	0	0	0	0	0	0	1	2738	796	28	2		2	CCDC102A	16	57550226	Silent	SNP	C	TCGA-VF-A8AA-01A-11D-A435-10	57311017	57550226	32804527	25	7349											
ANAPC11	51529	bcgsc.ca	37	chr17	79857807	79857807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtaggcaaggtgcccGgcgacgactgcccgctggtg	5	6	15	15	5	0	0	0	0	0	0	1	2	1	0	4	4	2	3	4	4	2	1	rs535288823		TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr17:79857807G>T	ENST00000575195.2	+	2	301	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C	NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000344877.5_Missense_Mutation_p.G41C|ANAPC11_ENST00000571024.2_Missense_Mutation_p.G41C|ANAPC11_ENST00000577425.1_3'UTR|ANAPC11_ENST00000571570.1_Missense_Mutation_p.G41C|ANAPC11_ENST00000571874.2_Missense_Mutation_p.G41C|ANAPC11_ENST00000579133.1_3'UTR|ANAPC11_ENST00000578550.1_Missense_Mutation_p.G41C|ANAPC11_ENST00000583839.1_Missense_Mutation_p.G41C|ANAPC11_ENST00000578544.1_3'UTR|ANAPC11_ENST00000572851.2_Missense_Mutation_p.G41C|ANAPC11_ENST00000392376.3_Missense_Mutation_p.G41C|ANAPC11_ENST00000577747.1_Missense_Mutation_p.G41C|ANAPC11_ENST00000572639.1_Missense_Mutation_p.G41C|ANAPC11_ENST00000574924.2_Missense_Mutation_p.G41C|ANAPC11_ENST00000357385.3_Missense_Mutation_p.R141L|NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000579978.1_Missense_Mutation_p.G41C			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	41					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)			CAAGGTGCCCGGCGACGACTG	0.647																																					p.R141L													.	ANAPC11	1		0			c.G422T												111	78	89					17																	79857807		2202	4300	6502	SO:0001583	missense	51529	exon4			GTGCCCGGCGACG	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.121G>T	17.37:g.79857807G>T	ENSP00000458515:p.Gly41Cys		49	0	0		57	0.07	4	NM_001002244	621	0	1	A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Missense_Mutation	SNP	ENST00000575195.2	37	CCDS11789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.27|11.27	1.589008|1.589008	0.28357|0.28357	.|.	.|.	ENSG00000141552|ENSG00000141552	ENST00000344877;ENST00000392376|ENST00000357385	.|.	.|.	.|.	4.65|4.65	4.65|4.65	0.58169|0.58169	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);|.	.|.	.|.	.|.	.|.	T|T	0.59595|0.59595	0.2205|0.2205	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|B	0.89917|0.27416	1.0|0.178	D|B	0.91635|0.28916	0.999|0.096	T|T	0.63189|0.63189	-0.6693|-0.6693	7|7	0.87932|0.87932	D|D	0|0	-2.7225|-2.7225	17.7226|17.7226	0.88356|0.88356	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	41|141	Q9NYG5|Q9NYG5-2	APC11_HUMAN|.	C|L	41|141	.|.	ENSP00000339695:G41C|ENSP00000349957:R141L	G|R	+|+	1|2	0|0	ANAPC11|ANAPC11	77451099|77451099	1.000000|1.000000	0.71417|0.71417	0.723000|0.723000	0.30687|0.30687	0.264000|0.264000	0.26372|0.26372	8.844000|8.844000	0.92147|0.92147	2.424000|2.424000	0.82194|0.82194	0.655000|0.655000	0.94253|0.94253	GGC|CGG			0.647	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440106.2		NM_016476		T	79857807	G	T	79857807	3	4	97	1	0	0	0	0	1	0	0	0	600	1116	39	1	432	1	ANAPC11	17	79857807	Missense_Mutation	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10		79857807	1337403	26	7350											
NPC1	4864	hgsc.bcm.edu;bcgsc.ca	37	chr18	21134853	21134853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtgcagttcgtgttataCggtgaaagaggggccaagca	11	9	15	6	2	0	2	0	1	0	1	1	2	0	2	1	4	3	4	1	4	4	3	rs367900403		TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr18:21134853C>T	ENST00000269228.5	-	9	1976	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.P224P	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	474			P -> L (in NPC1). {ECO:0000269|PubMed:12401890, ECO:0000269|PubMed:16098014}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCGTGTTATACGGTGAAAGAG	0.443																																					p.P474P													.	.			0			c.G1422A							C		0,4406		0,0,2203	166	132	143		1422	-9.8	0	18		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPC1	NM_000271.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		474/1279	21134853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4864	exon9			GTTATACGGTGAA	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1422G>A	18.37:g.21134853C>T			178	0	0		139	0.04	6	NM_000271	17	0	0	B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	CCDS11878.1																																																																																					0.443	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254823.2		NM_000271		T	21134853	C	T	21134853	2	4	97	1	0	0	0	0	0	0	0	1	10587	523	19	1		1	NPC1	18	21134853	Silent	SNP	C	TCGA-VF-A8AA-01A-11D-A435-10		21134853	56942395	27	7351											
AZU1	566	broad.mit.edu	37	chr19	827874	827874	+	Frame_Shift_Del	DEL	C	C	-																															ggctgacagtcctggccctgCtggctggtctgctggcgtcc																										TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr19:827874delC	ENST00000233997.2	+	1	49	c.28delC	c.(28-30)ctgfs	p.L10fs		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	10					cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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)		CCTGGCCCTGCTGGCTGGTCT	0.687																																					p.L10fs													.	AZU1	31		0			c.28delC												18	21	20					19																	827874		2103	4168	6271	SO:0001589	frameshift_variant	566	exon1			GCCCTGCTGGCTG	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.28delC	19.37:g.827874delC	ENSP00000233997:p.Leu10fs		11	0	0		6	0.5	3	NM_001700	0		0	P80014|Q52LG4|Q9UCM1|Q9UCT5	Frame_Shift_Del	DEL	ENST00000233997.2	37	CCDS12044.1																																																																																					0.687	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457472.2		NM_001700		-	827874	C	-	827874	7	5	97	1	0	1	0	1	0	0	0	0	1243	796	28	0	30	0	AZU1	19	827874	Frame_Shift_Del	DEL	C	TCGA-VF-A8AA-01A-11D-A435-10		827874	58301109	28	7352											
PSPN	5623	broad.mit.edu	37	chr19	6375401	6375401	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtcggtgtagcgagtgggCcggcagcagggcccgccgtg	5	5	19	12	6	0	0	0	0	0	0	1	1	0	0	3	4	2	3	3	4	1	1			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr19:6375401C>A	ENST00000245810.1	-	2	374	c.375G>T	c.(373-375)cgG>cgT	p.R125R	PSPN_ENST00000597721.1_Missense_Mutation_p.A154S	NM_004158.2	NP_004149.1	O60542	PSPN_HUMAN	persephin	125					axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|central nervous system development (GO:0007417)|nervous system development (GO:0007399)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			lung(1)|ovary(1)|skin(1)	3						AGCGAGTGGGCCGGCAGCAGG	0.766																																					p.R125R													.	PSPN	5		0			c.G375T												1	2	1					19																	6375401		1041	2253	3294	SO:0001819	synonymous_variant	5623	exon2			AGTGGGCCGGCAG	AF040962	CCDS12164.1	19p13.3	2014-01-30				ENSG00000125650		"Endogenous ligands"	9579	protein-coding gene	gene with protein product		602921				10072588	Standard	NM_004158		Approved	PSP	uc010xja.2	O60542		ENST00000245810.1:c.375G>T	19.37:g.6375401C>A			14	0.0714285714	1		20	0.3	6	NM_004158	0		0		Missense_Mutation	SNP	ENST00000245810.1	37	CCDS12164.1	.	.	.	.	.	.	.	.	.	.	C	7.807	0.714977	0.15306	.	.	ENSG00000125650	ENST00000545374	.	.	.	4.21	1.87	0.25490	.	.	.	.	.	T	0.71195	0.3311	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75811	-0.3186	5	0.87932	D	0	-1.939	12.3574	0.55184	0.0:0.4667:0.5333:0.0	.	.	.	.	S	154	.	ENSP00000438257:A154S	A	-	1	0	PSPN	6326401	0.346000	0.24844	0.884000	0.34674	0.010000	0.07245	-0.010000	0.12743	1.130000	0.42092	0.313000	0.20887	GCC			0.766	PSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398032.1		NM_004158		A	6375401	C	A	6375401	2	1	97	1	0	0	0	0	0	0	0	1	12738	726	26	2		2	PSPN	19	6375401	Silent	SNP	C	TCGA-VF-A8AA-01A-11D-A435-10	5547527	6375401	52753582	29	7353											
BIRC8	112401	bcgsc.ca	37	chr19	53792954	53792955	+	Missense_Mutation	DNP	GC	GC	AT																															tttgcttgaaatcaataaccGcgctgcacatgggacatctg																								rs35700345|rs34683072|rs386810666	byFrequency	TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	GC	GC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chr19:53792954_53792955GC>AT	ENST00000426466.1	-	1	1920_1921	c.673_674GC>AT	c.(673-675)GCg>ATg	p.A225M		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	225			A -> T (in dbSNP:rs35700345).|A -> V (in dbSNP:rs34683072).		apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		ATCAATAACCGCGCTGCACATG	0.401																																					p.A225M													.	BIRC8	54		0			c.G673A																																									SO:0001583	missense	112401	exon1			ATAACCGCGCTGC	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.673_674delinsAT	19.37:g.53792954_53792955delinsAT	ENSP00000412957:p.Ala225Met		125	0	0		155	0.05	8	NM_033341	0		0	Q6IPY1|Q96RW5	Missense_Mutation	DNP	ENST00000426466.1	37	CCDS12863.1																																																																																					0.401	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464357.1		NM_033341		AT	53792955	GC	AT	53792954	3	1	97	1	0	0	0	0	1	0	0	0	1440	1087	38	1	40	1	BIRC8	19	53792954	Missense_Mutation	DNP	GC	TCGA-VF-A8AA-01A-11D-A435-10	47417553	53792954	5336029	30	7354											
NHS	4810	hgsc.bcm.edu	37	chrX	17750309	17750309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagtcccctcagagcaccGatgatgcccatcaggggtca	10	6	11	14	1	3	3	3	1	0	2	4	4	4	3	4	2	2	1	4	2	0	0			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chrX:17750309G>A	ENST00000380060.3	+	8	4956	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	NHS_ENST00000398097.3_Missense_Mutation_p.D1384N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1561					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)					TCAGAGCACCGATGATGCCCA	0.562																																					p.D1540N													.	.			0			c.G4618A												86	79	81					X																	17750309		2203	4300	6503	SO:0001583	missense	4810	exon8			AGCACCGATGATG		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.4618G>A	X.37:g.17750309G>A	ENSP00000369400:p.Asp1540Asn		161	0	0		182	0.04	8	NM_198270	1	0	0	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251357	0.59212	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.45276	0.9;0.91	5.69	4.83	0.62350	.	0.488362	0.23724	N	0.045192	T	0.29588	0.0738	L	0.43152	1.355	0.46749	D	0.999188	P;B;B;P	0.40681	0.519;0.229;0.229;0.727	B;B;B;B	0.24269	0.052;0.052;0.052;0.049	T	0.06285	-1.0835	10	0.29301	T	0.29	-2.2614	14.3458	0.66662	0.0:0.1917:0.8083:0.0	.	1561;1382;1384;1540	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	N	1540;1384;1382	ENSP00000369400:D1540N;ENSP00000381170:D1384N	ENSP00000369397:D1382N	D	+	1	0	NHS	17660230	1.000000	0.71417	0.521000	0.27850	0.819000	0.46315	6.833000	0.75334	1.293000	0.44690	0.600000	0.82982	GAT			0.562	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059120.1		NM_198270		A	17750309	G	A	17750309	3	1	97	1	0	0	0	0	1	0	0	0	10428	1058	37	1	4753	1	NHS	23	17750309	Missense_Mutation	SNP	G	TCGA-VF-A8AA-01A-11D-A435-10		17750309	137520251	31	7355											
PTCHD1	139411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	23411681	23411681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtgaagttcatcgtcttCaatccgtcctttgtatacat	10	15	7	9	2	3	1	2	1	1	0	6	1	5	1	2	1	1	2	2	1	5	5			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chrX:23411681C>G	ENST00000379361.4	+	3	2906	c.2046C>G	c.(2044-2046)ttC>ttG	p.F682L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	682					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						TCATCGTCTTCAATCCGTCCT	0.493																																					p.F682L													.	.			0			c.C2046G												91	82	85					X																	23411681		2203	4300	6503	SO:0001583	missense	139411	exon3			CGTCTTCAATCCG	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.2046C>G	X.37:g.23411681C>G	ENSP00000368666:p.Phe682Leu		55	0	0		96	0.11	11	NM_173495	1	0	0	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145132	0.57044	.	.	ENSG00000165186	ENST00000379361	D	0.90788	-2.73	5.34	2.05	0.26809	.	0.000000	0.85682	D	0.000000	D	0.92606	0.7651	L	0.57536	1.79	0.48087	D	0.99958	D	0.60160	0.987	D	0.69824	0.966	D	0.90484	0.4462	10	0.87932	D	0	.	9.0092	0.36131	0.0:0.7193:0.0:0.2807	.	682	Q96NR3	PTHD1_HUMAN	L	682	ENSP00000368666:F682L	ENSP00000368666:F682L	F	+	3	2	PTCHD1	23321602	0.998000	0.40836	0.992000	0.48379	0.996000	0.88848	0.666000	0.25097	-0.011000	0.14247	0.529000	0.55759	TTC			0.493	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056047.2		NM_173495		G	23411681	C	G	23411681	3	3	97	1	0	0	0	0	1	0	0	0	12752	825	29	5	2056	5	PTCHD1	23	23411681	Missense_Mutation	SNP	C	TCGA-VF-A8AA-01A-11D-A435-10	5661372	23411681	131858879	32	7356											
CXorf48	54967	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	134294393	134294393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actaatataaatattatcttCatttatagaagtaacacatc	18	15	2	6	0	2	1	1	0	1	1	3	1	2	1	0	0	1	1	0	0	10	10			TCGA-VF-A8AA-01A-11D-A435-10	TCGA-VF-A8AA-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	59db8d85-3daa-42af-8649-41c53d90e9ce	5cf5995d-4ad7-4c93-858b-1e46e9cb6bfb	g.chrX:134294393C>T	ENST00000276241.6	-	3	593	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	CXorf48_ENST00000344129.2_Missense_Mutation_p.E123K	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		123										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					ATATTATCTTCATTTATAGAA	0.313																																					p.E123K													.	.			0			c.G367A												20	19	20					X																	134294393		2202	4286	6488	SO:0001583	missense	54967	exon3			TATCTTCATTTAT																												ENST00000276241.6:c.367G>A	X.37:g.134294393C>T	ENSP00000276241:p.Glu123Lys		278	0	0		291	0.15	45	NM_017863	5	0.2	1	Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127090	0.20959	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.44083	0.93;0.93	2.93	-5.86	0.02304	.	0.530450	0.15689	N	0.249532	T	0.24353	0.0590	L	0.33339	1.005	0.09310	N	1	B	0.22080	0.064	B	0.11329	0.006	T	0.03443	-1.1036	10	0.30854	T	0.27	-2.9105	9.4264	0.38583	0.0:0.6726:0.1416:0.1859	.	123	Q8WUE5	CX048_HUMAN	K	123	ENSP00000276241:E123K;ENSP00000343893:E123K	ENSP00000276241:E123K	E	-	1	0	CXorf48	134122059	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.709000	0.05030	-2.254000	0.00697	-0.351000	0.07748	GAA			0.313	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058404.1				T	134294393	C	T	134294393	3	4	97	1	0	0	0	0	1	0	0	0	4113	835	29	3	447	3	CXorf48	23	134294393	Missense_Mutation	SNP	C	TCGA-VF-A8AA-01A-11D-A435-10	110882712	134294393	20976167	33	7357											
ZBTB48	3104	mdanderson.org	37	chr1	6646792	6646792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaggagacattccgccGaaggatggagctgcgggtgc	8	6	17	10	3	0	1	0	0	0	1	1	5	1	3	3	4	4	1	3	4	1	1	rs368975120		TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr1:6646792G>T	ENST00000377674.4	+	5	1240	c.1082G>T	c.(1081-1083)cGa>cTa	p.R361L		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	361					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(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|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;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		ACATTCCGCCGAAGGATGGAG	0.647																																					p.R361L	Esophageal Squamous(125;1449 1657 4031 29866 49542)												.	ZBTB48	33		0			c.G1082T												89	65	73					1																	6646792		2203	4300	6503	SO:0001583	missense	3104	exon5			TCCGCCGAAGGAT	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1082G>T	1.37:g.6646792G>T	ENSP00000366902:p.Arg361Leu		62	0	0		56	0.05	3	NM_005341	82	0	0	Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053065	0.75960	.	.	ENSG00000204859	ENST00000377674	T	0.60548	0.18	5.45	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.257049	0.44285	N	0.000470	T	0.45538	0.1347	L	0.28344	0.845	0.47214	D	0.999353	B	0.12013	0.005	B	0.12156	0.007	T	0.32375	-0.9909	10	0.36615	T	0.2	-30.8533	14.8503	0.70292	0.0:0.0:0.8553:0.1447	.	361	P10074	ZBT48_HUMAN	L	361	ENSP00000366902:R361L	ENSP00000366902:R361L	R	+	2	0	ZBTB48	6569379	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.447000	0.60020	1.406000	0.46857	0.561000	0.74099	CGA			0.647	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004193.1		NM_005341		T	6646792	G	T	6646792	3	4	98	1	0	0	0	0	1	0	0	0	17572	1058	37	1	1096	1	ZBTB48	1	6646792	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		6646792	242603829	1	7358											
PADI2	11240	mdanderson.org	37	chr1	17431436	17431436	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggtggtgctgggcgaGagaagccagcgctgcttgcc	6	6	18	11	3	0	1	0	0	0	1	0	3	0	1	2	3	5	4	2	3	1	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr1:17431436G>T	ENST00000375486.4	-	2	276	c.213C>A	c.(211-213)ctC>ctA	p.L71L	PADI2_ENST00000375481.1_Silent_p.L71L|PADI2_ENST00000444885.2_Silent_p.L71L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	71					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)	TGCTGGGCGAGAGAAGCCAGC	0.662																																					p.L71L													.	PADI2	72		0			c.C213A												52	46	48					1																	17431436		2203	4300	6503	SO:0001819	synonymous_variant	11240	exon2			GGGCGAGAGAAGC	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.213C>A	1.37:g.17431436G>T			38	0	0		39	0.08	3	NM_007365	40	0	0	Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	CCDS177.1																																																																																					0.662	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006624.1				T	17431436	G	T	17431436	2	4	98	1	0	0	0	0	0	0	0	1	11395	929	33	3		3	PADI2	1	17431436	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	10784644	17431436	231819185	2	7359											
PADI2	11240	mdanderson.org	37	chr1	17431515	17431515	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacccacacgtgttccGagtgcttcaggctgaaggtt	7	10	10	14	2	1	1	1	1	0	0	3	2	3	1	4	2	1	4	4	2	1	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr1:17431515G>T	ENST00000375486.4	-	2	197	c.134C>A	c.(133-135)tCg>tAg	p.S45*	PADI2_ENST00000375481.1_Nonsense_Mutation_p.S45*|PADI2_ENST00000444885.2_Nonsense_Mutation_p.S45*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	45					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)	CACGTGTTCCGAGTGCTTCAG	0.667																																					p.S45X													.	PADI2	72		0			c.C134A												43	41	42					1																	17431515		2203	4300	6503	SO:0001587	stop_gained	11240	exon2			TGTTCCGAGTGCT	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.134C>A	1.37:g.17431515G>T	ENSP00000364635:p.Ser45*		47	0	0		50	0.06	3	NM_007365	40	0	0	Q96DA7|Q9UPN2	Nonsense_Mutation	SNP	ENST00000375486.4	37	CCDS177.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337135	0.60963	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	.	.	.	4.93	4.93	0.64822	.	0.134489	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9917	13.6651	0.62389	0.0:0.0:1.0:0.0	.	.	.	.	X	45	.	ENSP00000364630:S45X	S	-	2	0	PADI2	17304102	1.000000	0.71417	0.935000	0.37517	0.064000	0.16182	5.237000	0.65360	2.267000	0.75376	0.655000	0.94253	TCG			0.667	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006624.1				T	17431515	G	T	17431515	4	4	98	1	0	0	0	0	0	1	0	0	11395	1059	37	1	1923	1	PADI2	1	17431515	Nonsense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	79	17431515	231819106	3	7360											
KIF17	57576	mdanderson.org	37	chr1	21031250	21031250	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcgccgagatgacattGcccagtgccgagagcgacag	11	4	13	13	4	0	3	0	1	0	2	0	6	0	3	4	0	4	0	4	0	0	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr1:21031250G>T	ENST00000247986.2	-	5	1123	c.813C>A	c.(811-813)ggC>ggA	p.G271G	KIF17_ENST00000400463.3_Silent_p.G271G|KIF17_ENST00000375044.1_Silent_p.G171G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	271	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGATGACATTGCCCAGTGCCG	0.672																																					p.G271G													.	KIF17	130		0			c.C813A												76	77	77					1																	21031250		2203	4300	6503	SO:0001819	synonymous_variant	57576	exon5			GACATTGCCCAGT	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.813C>A	1.37:g.21031250G>T			52	0	0		50	0.06	3	NM_020816	5	0	0	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																					0.672	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000276995.1		NM_020816		T	21031250	G	T	21031250	2	4	98	1	0	0	0	0	0	0	0	1	8294	1306	46	2		2	KIF17	1	21031250	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	3599735	21031250	228219371	4	7361											
RPS6KA1	6195	mdanderson.org	37	chr1	26898408	26898408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcattctgctgtacaccatGctggcagggtgagtgcccct	6	10	13	12	0	1	1	0	1	1	0	1	1	1	1	3	3	4	5	3	3	1	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr1:26898408G>T	ENST00000374168.2	+	19	1975	c.1821G>T	c.(1819-1821)atG>atT	p.M607I	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.M591I|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.M616I|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.M596I|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.M515I|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.M515I	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	607	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|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 apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TGTACACCATGCTGGCAGGGT	0.627																																					p.M616I													.	RPS6KA1	65		0			c.G1848T												51	47	48					1																	26898408		2203	4300	6503	SO:0001583	missense	6195	exon18			CACCATGCTGGCA	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1821G>T	1.37:g.26898408G>T	ENSP00000363283:p.Met607Ile		16	0	0		34	0.09	3	NM_001006665	215	0	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075731	0.76415	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.16	5.16	0.70880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.036467	0.85682	D	0.000000	T	0.50292	0.1607	N	0.13140	0.3	0.80722	D	1	D;D;B	0.76494	0.999;0.961;0.31	D;P;B	0.85130	0.997;0.798;0.282	T	0.58758	-0.7580	10	0.87932	D	0	.	18.8434	0.92194	0.0:0.0:1.0:0.0	.	591;616;607	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	I	607;596;515;515;591;616	ENSP00000363283:M607I;ENSP00000363281:M596I;ENSP00000431651:M515I;ENSP00000363277:M515I;ENSP00000432281:M591I;ENSP00000435412:M616I	ENSP00000363277:M515I	M	+	3	0	RPS6KA1	26770995	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.602000	0.98312	2.678000	0.91216	0.563000	0.77884	ATG			0.627	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011431.1		NM_002953		T	26898408	G	T	26898408	3	4	98	1	0	0	0	0	1	0	0	0	13673	1319	46	2	2034	2	RPS6KA1	1	26898408	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	5867158	26898408	222352213	5	7362											
MECR	51102	bcgsc.ca	37	chr1	29542572	29542572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcagcccggtcacattGctgcccaccgctaccacctg	6	8	9	18	2	2	0	2	0	0	0	2	0	2	0	5	2	4	3	5	2	1	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr1:29542572G>T	ENST00000263702.6	-	3	376	c.351C>A	c.(349-351)agC>agA	p.S117R	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_Missense_Mutation_p.S41R			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	117					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CGGTCACATTGCTGCCCACCG	0.537																																					p.S117R													.	MECR	31		0			c.C351A												143	128	133					1																	29542572		2203	4300	6503	SO:0001583	missense	51102	exon3			CACATTGCTGCCC		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.351C>A	1.37:g.29542572G>T	ENSP00000263702:p.Ser117Arg		124	0	0		134	0.05	7	NM_016011	75	0	0	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503409	0.26949	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792	T;T	0.49139	0.79;0.79	5.53	4.61	0.57282	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.548925	0.23964	N	0.042837	T	0.39091	0.1065	L	0.41961	1.31	0.39093	D	0.961132	B	0.12013	0.005	B	0.25291	0.059	T	0.39099	-0.9630	10	0.52906	T	0.07	-20.5192	7.6867	0.28544	0.0851:0.0:0.7543:0.1606	.	117	Q9BV79	MECR_HUMAN	R	41;117;29	ENSP00000362896:S41R;ENSP00000263702:S117R	ENSP00000263702:S117R	S	-	3	2	MECR	29415159	0.165000	0.22948	0.955000	0.39395	0.355000	0.29361	1.721000	0.38032	2.617000	0.88574	0.549000	0.68633	AGC			0.537	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130740.1		NM_016011		T	29542572	G	T	29542572	3	4	98	1	0	0	0	0	1	0	0	0	9440	1310	46	2	802	2	MECR	1	29542572	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	2644164	29542572	219708049	6	7363											
GON4L	54856	ucsc.edu	37	chr1	155726782	155726782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaccccgatctcttttttCctcttgttctttgaggctgt	3	19	8	11	1	3	1	0	1	3	0	5	3	4	2	3	2	0	2	3	2	0	6			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr1:155726782C>T	ENST00000368331.1	-	27	5532	c.5484G>A	c.(5482-5484)agG>agA	p.R1828R	GON4L_ENST00000271883.5_Silent_p.R1828R|GON4L_ENST00000437809.1_Silent_p.R1828R	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1828					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)					TCTCTTTTTTCCTCTTGTTCT	0.438																																					p.R1828R													.	GON4L	392		0			c.G5484A												120	114	116					1																	155726782		1859	4096	5955	SO:0001819	synonymous_variant	54856	exon27			TTTTTTCCTCTTG	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.5484G>A	1.37:g.155726782C>T			132	0	0		194	0.01	1	NM_001037533	76	0.16	12	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																						0.438	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_032292		T	155726782	C	T	155726782	2	4	98	1	0	0	0	0	0	0	0	1	6586	854	30	3		3	GON4L	1	155726782	Silent	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	126184210	155726782	93523839	7	7364											
SNAP47	116841	mdanderson.org	37	chr1	227947187	227947187	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctcagtctggcatgcagGttagtgaccgacaaggcagt	9	9	13	10	1	2	1	1	1	1	0	2	2	2	1	1	3	2	5	1	3	2	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr1:227947187G>T	ENST00000366759.4	+	3	1537		c.e3+1		SNAP47_ENST00000315781.5_Splice_Site|SNAP47_ENST00000366760.1_Splice_Site	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa						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						TGGCATGCAGGTTAGTGACCG	0.527																																					.													.	SNAP47	42		0			c.1123+1G>T												100	104	102					1																	227947187		2203	4300	6503	SO:0001630	splice_region_variant	116841	exon3			ATGCAGGTTAGTG	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.1123+1G>T	1.37:g.227947187G>T			77	0	0		80	0.05	4	NM_053052	0		0	B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Splice_Site	SNP	ENST00000366759.4	37	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193734	0.38707	.	.	ENSG00000143740	ENST00000366760;ENST00000366759;ENST00000315781;ENST00000418653;ENST00000426344	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7667	0.62999	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNAP47	226013810	1.000000	0.71417	0.999000	0.59377	0.209000	0.24338	6.380000	0.73158	2.623000	0.88846	0.561000	0.74099	.			0.527	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091961.1		NM_053052	Intron	T	227947187	G	T	227947187	5	4	98	1	0	0	0	0	0	0	1	0	14855	1275	44	3	1134	3	SNAP47	1	227947187	Splice_Site	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	72220405	227947187	21303434	8	7365											
RAB3GAP1	22930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	135920150	135920150	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactatctggcaatccagaAacctgcagaccttgctcggc	10	8	9	14	1	1	2	0	0	1	2	3	2	2	2	3	2	3	4	3	2	3	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr2:135920150A>T	ENST00000264158.8	+	20	2358	c.2315A>T	c.(2314-2316)aAa>aTa	p.K772I	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.K772I|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_5'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.K728I	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	772					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GCAATCCAGAAACCTGCAGAC	0.463																																					p.K772I													.	.			0			c.A2315T												53	51	51					2																	135920150		2203	4300	6503	SO:0001583	missense	22930	exon20			TCCAGAAACCTGC	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2315A>T	2.37:g.135920150A>T	ENSP00000264158:p.Lys772Ile		116	0	0		113	0.1	11	NM_001172435	118	0.03	3	A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.914983	0.92178	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.49139	0.79;0.79;0.79	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.98	T	0.65261	-0.6211	10	0.44086	T	0.13	-26.8913	16.6093	0.84858	1.0:0.0:0.0:0.0	.	772;772	C9J837;Q15042	.;RB3GP_HUMAN	I	772;728;772	ENSP00000264158:K772I;ENSP00000444306:K728I;ENSP00000411418:K772I	ENSP00000264158:K772I	K	+	2	0	RAB3GAP1	135636620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.574000	0.90763	2.324000	0.78689	0.533000	0.62120	AAA			0.463	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337514.2		NM_012233		T	135920150	A	T	135920150	3	4	98	1	0	0	0	0	1	0	0	0	12958	14	1	5	2393	5	RAB3GAP1	2	135920150	Missense_Mutation	SNP	A	TCGA-VF-A8AB-01A-31D-A435-10		135920150	107279223	9	7366											
SLC38A11	151258	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	165793940	165793940	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtagagatgagggagacCtgtaaaagaaaatacaagga	18	6	12	5	0	0	4	0	1	0	3	0	7	0	5	2	2	1	2	2	2	7	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr2:165793940C>G	ENST00000409149.3	-	6	661		c.e6-1		SLC38A11_ENST00000493887.1_Splice_Site|SLC38A11_ENST00000409058.1_Splice_Site|SLC38A11_ENST00000303735.4_Splice_Site|SLC38A11_ENST00000409662.1_Splice_Site	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGAGGGAGACCTGTAAAAGAA	0.323																																					.													SLC38A11,colon,carcinoma,0,1	SLC38A11	41	1	0			c.304-1G>C												111	112	112					2																	165793940		2203	4300	6503	SO:0001630	splice_region_variant	151258	exon6			GGAGACCTGTAAA		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.370-1G>C	2.37:g.165793940C>G			46	0	0		55	0.11	6	NM_173512	0		0	B4DF99|Q8N887	Splice_Site	SNP	ENST00000409149.3	37	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	C	8.207	0.799515	0.16397	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.008	0.86398	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A11	165502186	1.000000	0.71417	0.997000	0.53966	0.043000	0.13939	5.692000	0.68256	2.391000	0.81399	0.555000	0.69702	.			0.323	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333390.1		NM_173512	Intron	G	165793940	C	G	165793940	5	3	98	1	0	0	0	0	0	0	1	0	14626	695	24	5	875	5	SLC38A11	2	165793940	Splice_Site	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	29873790	165793940	77405433	10	7367											
SP140L	93349	mdanderson.org	37	chr2	231193483	231193483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttttagggggctgaacgGaggtgtttcacaagtagcaa	10	12	13	6	1	2	1	1	1	1	0	2	2	2	2	0	4	2	4	0	4	5	5			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr2:231193483G>T	ENST00000415673.2	+	2	130	c.44G>T	c.(43-45)gGa>gTa	p.G15V	SP140L_ENST00000396563.4_Missense_Mutation_p.G15V|SP140L_ENST00000444636.1_Missense_Mutation_p.G15V|SP140_ENST00000486687.2_Intron|SP140L_ENST00000243810.6_Missense_Mutation_p.G15V	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	15						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						gggctgaacggaggtgtttca	0.373																																					p.G15V													.	SP140L	68		0			c.G44T												93	100	98					2																	231193483		2198	4300	6498	SO:0001583	missense	93349	exon2			TGAACGGAGGTGT	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.44G>T	2.37:g.231193483G>T	ENSP00000397911:p.Gly15Val		106	0	0		87	0.05	4	NM_138402	20	0	0	Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	1.406	-0.576914	0.03854	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;T;D;D	0.83755	-1.59;-1.23;-1.59;-1.76	2.07	-4.14	0.03892	.	.	.	.	.	T	0.63474	0.2514	N	0.08118	0	0.09310	N	1	P	0.42357	0.777	B	0.42087	0.375	T	0.59193	-0.7500	9	0.59425	D	0.04	.	4.1833	0.10387	0.4489:0.0:0.3876:0.1635	.	15	Q9H930-4	.	V	15	ENSP00000395195:G15V;ENSP00000397911:G15V;ENSP00000243810:G15V;ENSP00000379811:G15V	ENSP00000243810:G15V	G	+	2	0	SP140L	230901727	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.093000	0.11111	-1.835000	0.01191	-1.407000	0.01130	GGA			0.373	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374538.1		NM_138402		T	231193483	G	T	231193483	3	4	98	1	0	0	0	0	1	0	0	0	14986	1174	41	3	50	3	SP140L	2	231193483	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	65399543	231193483	12005890	11	7368											
NBEAL2	23218	mdanderson.org	37	chr3	47036675	47036675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtgacagctgccctGccagccgtgccacctgtgtg	4	9	13	15	1	1	1	0	1	1	0	1	1	1	1	5	1	5	2	5	1	0	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr3:47036675G>T	ENST00000450053.3	+	13	1629	c.1450G>T	c.(1450-1452)Gcc>Tcc	p.A484S	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A484S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	484					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)		CAGCTGCCCTGCCAGCCGTGC	0.677																																					p.A484S													.	NBEAL2	267		0			c.G1450T												7	8	8					3																	47036675		1952	4070	6022	SO:0001583	missense	23218	exon13			TGCCCTGCCAGCC	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.1450G>T	3.37:g.47036675G>T	ENSP00000415034:p.Ala484Ser		50	0.08	4		70	0.16	11	NM_015175	16	0	0	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	4.150	0.026253	0.08054	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.49720	0.77;0.77	4.59	1.62	0.23740	Armadillo-like helical (1);Armadillo-type fold (1);	0.449291	0.22539	N	0.058757	T	0.25457	0.0619	L	0.28274	0.84	0.80722	D	1	B;B	0.25667	0.131;0.006	B;B	0.21151	0.033;0.005	T	0.04320	-1.0960	10	0.09843	T	0.71	.	5.4741	0.16686	0.1981:0.2893:0.5126:0.0	.	450;484	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	S	484;484;450	ENSP00000292309:A484S;ENSP00000415034:A484S	ENSP00000292309:A484S	A	+	1	0	NBEAL2	47011679	0.893000	0.30496	0.997000	0.53966	0.951000	0.60555	1.393000	0.34497	0.674000	0.31244	-0.224000	0.12420	GCC			0.677	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344363.3		XM_291064		T	47036675	G	T	47036675	3	4	98	1	0	0	0	0	1	0	0	0	10205	1319	46	2	1500	2	NBEAL2	3	47036675	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		47036675	150985755	12	7369											
SPINK8	646424	bcgsc.ca;mdanderson.org	37	chr3	48362556	48362556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagaggccataggaaGggggaagtctggaagacaaa	14	7	14	6	0	3	2	1	0	2	2	3	5	3	5	1	5	0	0	1	5	5	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr3:48362556G>T	ENST00000434006.1	-	2	75	c.76C>A	c.(76-78)Ctt>Att	p.L26I		NM_001080525.1	NP_001073994.1	P0C7L1	ISK8_HUMAN	serine peptidase inhibitor, Kazal type 8 (putative)	26						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCATAGGAAGGGGGAAGTCT	0.473																																					p.L26I													.	SPINK8	5		0			c.C76A												51	46	47					3																	48362556		1865	4109	5974	SO:0001583	missense	646424	exon2			TAGGAAGGGGGAA		CCDS46822.1	3p21.31	2011-08-31			ENSG00000229453	ENSG00000229453		"Serine peptidase inhibitors, Kazal type"	33160	protein-coding gene	gene with protein product						16930550	Standard	NM_001080525		Approved		uc003csq.1	P0C7L1	OTTHUMG00000156832	ENST00000434006.1:c.76C>A	3.37:g.48362556G>T	ENSP00000407497:p.Leu26Ile		75	0	0		78	0.06	5	NM_001080525	0		0		Missense_Mutation	SNP	ENST00000434006.1	37	CCDS46822.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348820	0.24426	.	.	ENSG00000229453	ENST00000434006	T	0.26067	1.76	3.31	2.42	0.29668	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.09310	N	1	P	0.48834	0.916	B	0.39935	0.314	T	0.10894	-1.0610	8	0.87932	D	0	.	8.5444	0.33413	0.0:0.2377:0.7623:0.0	.	26	P0C7L1	ISK8_HUMAN	I	26	ENSP00000407497:L26I	ENSP00000407497:L26I	L	-	1	0	SPINK8	48337560	0.731000	0.28111	0.117000	0.21633	0.127000	0.20565	0.772000	0.26647	0.953000	0.37825	0.650000	0.86243	CTT			0.473	SPINK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346123.1		NM_001080525		T	48362556	G	T	48362556	3	4	98	1	0	0	0	0	1	0	0	0	15088	1000	35	3	233	3	SPINK8	3	48362556	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	1325881	48362556	149659874	13	7370											
CAMKV	79012	broad.mit.edu	37	chr3	49897047	49897047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgcttccatcggtggctgGggtgacactgccatcagtgg	6	10	15	10	1	1	1	1	1	0	0	3	2	2	1	2	5	2	2	2	5	0	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr3:49897047G>T	ENST00000477224.1	-	11	1688	c.1210C>A	c.(1210-1212)Cca>Aca	p.P404T	CAMKV_ENST00000488336.1_Missense_Mutation_p.P373T|CAMKV_ENST00000296471.7_Missense_Mutation_p.P376T|CAMKV_ENST00000467248.1_Missense_Mutation_p.P329T|CAMKV_ENST00000463537.1_Silent_p.P335P|CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000466940.1_Missense_Mutation_p.P330T			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	404	Ala-rich.					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)		TCGGTGGCTGGGGTGACACTG	0.617																																					p.P404T													.	CAMKV	84		0			c.C1210A												115	118	117					3																	49897047		2203	4299	6502	SO:0001583	missense	79012	exon11			TGGCTGGGGTGAC	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.1210C>A	3.37:g.49897047G>T	ENSP00000419195:p.Pro404Thr		153	0	0		133	0.04	5	NM_024046	4	0	0	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342343	0.41498	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T	0.69926	0.3;-0.21;-0.21;-0.44;1.59	5.44	5.44	0.79542	.	0.000000	0.42172	D	0.000741	T	0.68915	0.3053	L	0.29908	0.895	0.44635	D	0.997617	P;B;D;D;P;P;P	0.62365	0.9;0.1;0.991;0.991;0.939;0.782;0.9	B;B;P;P;P;B;B	0.58013	0.339;0.023;0.831;0.831;0.639;0.188;0.339	T	0.71052	-0.4704	10	0.66056	D	0.02	.	14.6416	0.68729	0.0:0.0:1.0:0.0	.	330;336;404;329;376;373;404	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	T	376;373;404;329;330	ENSP00000296471:P376T;ENSP00000418809:P373T;ENSP00000419195:P404T;ENSP00000420053:P329T;ENSP00000420724:P330T	ENSP00000296471:P376T	P	-	1	0	CAMKV	49872051	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.035000	0.41155	2.837000	0.97791	0.655000	0.94253	CCA			0.617	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350584.4		NM_024046		T	49897047	G	T	49897047	3	4	98	1	0	0	0	0	1	0	0	0	2610	1232	43	3	299	3	CAMKV	3	49897047	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	1534491	49897047	148125383	14	7371											
FAM194A	131831	mdanderson.org	37	chr3	150421549	150421549	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcctccacctctTcctcctcctcctccacctct	2	13	0	26	0	2	0	0	0	2	0	11	0	11	0	12	0	0	0	12	0	0	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr3:150421549T>A	ENST00000295910.6	-	1	189	c.137A>T	c.(136-138)gAa>gTa	p.E46V	RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	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						ctccacctcttcctcctcctc	0.612																																					p.E46V													FAM194A,NS,carcinoma,+1,1	FAM194A	91	1	0			c.A137T												127	106	113					3																	150421549		2203	4300	6503	SO:0001583	missense	131831	exon1			ACCTCTTCCTCCT																												ENST00000295910.6:c.137A>T	3.37:g.150421549T>A	ENSP00000295910:p.Glu46Val		44	0.0681818182	3		54	0.15	8	NM_152394	0		0		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	4.389	0.071826	0.08436	.	.	ENSG00000163645	ENST00000295910;ENST00000474463	T;T	0.54279	2.03;0.58	0.443	0.443	0.16587	.	0.580363	0.13317	N	0.397030	T	0.45175	0.1329	N	0.08118	0	0.09310	N	0.999991	D	0.54772	0.968	P	0.61874	0.895	T	0.33369	-0.9871	9	0.66056	D	0.02	-1.7724	.	.	.	.	46	Q7L0X2	F194A_HUMAN	V	46	ENSP00000295910:E46V;ENSP00000419304:E46V	ENSP00000295910:E46V	E	-	2	0	FAM194A	151904239	0.000000	0.05858	0.011000	0.14972	0.012000	0.07955	-1.137000	0.03219	0.449000	0.26747	0.438000	0.28831	GAA			0.612	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257666.1				A	150421549	T	A	150421549	3	1	98	1	0	0	0	0	1	0	0	0	5536	1783	62	5	1910	5	FAM194A	3	150421549	Missense_Mutation	SNP	T	TCGA-VF-A8AB-01A-31D-A435-10	100524502	150421549	47600881	15	7372											
SPINK2	6691	mdanderson.org	37	chr4	57687798	57687798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtaactgccaggagcaGcagcgccaagcgcagcaccg	12	2	14	13	3	0	0	0	0	0	0	0	2	0	1	3	2	7	5	3	2	3	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr4:57687798G>T	ENST00000248701.4	-	1	110	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	SPINK2_ENST00000506738.1_Missense_Mutation_p.L11M|SPINK2_ENST00000504762.1_Missense_Mutation_p.L11M	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	11					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					GCCAGGAGCAGCAGCGCCAAG	0.701																																					p.L11M													.	SPINK2	12		0			c.C31A												10	10	10					4																	57687798		2122	4090	6212	SO:0001583	missense	6691	exon1			GGAGCAGCAGCGC	BC022514	CCDS3508.1, CCDS63971.1, CCDS63972.1, CCDS75128.1	4q12	2011-08-31	2005-08-17		ENSG00000128040	ENSG00000128040		"Serine peptidase inhibitors, Kazal type"	11245	protein-coding gene	gene with protein product		605753	"serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"			8428671	Standard	NM_001271718		Approved	HUSI-II	uc031sep.1	P20155	OTTHUMG00000128769	ENST00000248701.4:c.31C>A	4.37:g.57687798G>T	ENSP00000248701:p.Leu11Met		33	0	0		48	0.06	3	NM_001271722	7	0	0	Q6FGH2	Missense_Mutation	SNP	ENST00000248701.4	37	CCDS3508.1	.	.	.	.	.	.	.	.	.	.	G	6.634	0.485397	0.12641	.	.	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	T;D;D	0.84800	-1.36;-1.9;-1.9	2.81	-5.62	0.02481	.	4.048720	0.02147	N	0.057690	T	0.70928	0.3280	.	.	.	0.09310	N	1	P	0.37955	0.612	B	0.32533	0.147	T	0.63382	-0.6650	9	0.42905	T	0.14	.	2.1178	0.03718	0.2126:0.1526:0.4828:0.152	.	11	P20155	ISK2_HUMAN	M	11	ENSP00000248701:L11M;ENSP00000425961:L11M;ENSP00000423858:L11M	ENSP00000248701:L11M	L	-	1	2	SPINK2	57382555	0.005000	0.15991	0.005000	0.12908	0.021000	0.10359	-1.085000	0.03390	-1.344000	0.02216	0.313000	0.20887	CTG			0.701	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000250690.2		NM_021114		T	57687798	G	T	57687798	3	4	98	1	0	0	0	0	1	0	0	0	15083	962	34	2	239	2	SPINK2	4	57687798	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		57687798	133466478	16	7373											
TRIO	7204	mdanderson.org	37	chr5	14369582	14369582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactctgagacggaccacGtgacgcccatgatcagcaag	13	5	10	13	3	2	3	1	3	1	1	2	5	2	4	2	1	2	1	2	1	2	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr5:14369582G>T	ENST00000344204.4	+	18	3190	c.3166G>T	c.(3166-3168)Gtg>Ttg	p.V1056L	TRIO_ENST00000509967.2_Missense_Mutation_p.V1007L|TRIO_ENST00000537187.1_Missense_Mutation_p.V1056L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1056					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)					GACGGACCACGTGACGCCCAT	0.612																																					p.V1056L													.	TRIO	305		0			c.G3166T												105	99	101					5																	14369582		2203	4300	6503	SO:0001583	missense	7204	exon18			GACCACGTGACGC	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.3166G>T	5.37:g.14369582G>T	ENSP00000339299:p.Val1056Leu		49	0	0		49	0.06	3	NM_007118	7	0	0	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999785	0.54147	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T;T	0.59906	0.98;0.98;0.98;0.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	L	0.31294	0.92	0.80722	D	1	B;B;D	0.69078	0.035;0.334;0.997	B;B;D	0.74674	0.064;0.218;0.984	T	0.57551	-0.7792	10	0.17369	T	0.5	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	1007;1056;1056	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	L	1056;1056;1007;743	ENSP00000339299:V1056L;ENSP00000446348:V1056L;ENSP00000445592:V1007L;ENSP00000426342:V743L	ENSP00000339299:V1056L	V	+	1	0	TRIO	14422582	1.000000	0.71417	0.999000	0.59377	0.130000	0.20726	9.869000	0.99810	2.763000	0.94921	0.563000	0.77884	GTG			0.612	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253711.2		NM_007118		T	14369582	G	T	14369582	3	4	98	1	0	0	0	0	1	0	0	0	16576	1145	40	1	3236	1	TRIO	5	14369582	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		14369582	166545678	17	7374											
NPR3	4883	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	32712263	32712263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcgcggggcgccaaGccagaccttatcctggggcc	5	4	17	15	5	0	1	0	0	0	1	1	1	1	1	5	6	1	0	5	6	2	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr5:32712263G>A	ENST00000265074.8	+	1	724	c.381G>A	c.(379-381)aaG>aaA	p.K127K	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.K127K|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	127					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)	p.K127N(1)		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)	GGGGCGCCAAGCCAGACCTTA	0.687																																					p.K127K													.	.			1	Substitution - Missense(1)	lung(1)	c.G381A												50	59	56					5																	32712263		1925	4121	6046	SO:0001819	synonymous_variant	4883	exon1			CGCCAAGCCAGAC		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.381G>A	5.37:g.32712263G>A			139	0	0		109	0.2	22	NM_000908	0		0	A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	CCDS56357.1																																																																																					0.687	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317550.3		NM_000908		A	32712263	G	A	32712263	2	1	98	1	0	0	0	0	0	0	0	1	10613	962	34	2		2	NPR3	5	32712263	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	18342681	32712263	148202997	18	7375											
MAP1B	4131	mdanderson.org	37	chr5	71482492	71482492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagctgctcgtgctgaccGggcagtgctttgaaaatacc	10	9	11	11	2	0	2	0	2	0	0	1	2	0	2	2	1	5	5	2	1	4	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr5:71482492G>T	ENST00000296755.7	+	4	719	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	141					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)		CGTGCTGACCGGGCAGTGCTT	0.522																																					p.G141W	Melanoma(17;367 822 11631 31730 47712)												.	MAP1B	243		0			c.G421T												117	114	115					5																	71482492		2203	4300	6503	SO:0001583	missense	4131	exon4			CTGACCGGGCAGT	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.421G>T	5.37:g.71482492G>T	ENSP00000296755:p.Gly141Trp		90	0	0		64	0.05	3	NM_005909	1	0	0	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053840	0.93793	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.04706	3.57;3.57;3.57	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000003	T	0.26122	0.0637	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00422	-1.1749	10	0.87932	D	0	-25.4623	19.8968	0.96969	0.0:0.0:1.0:0.0	.	15;141	A2BDK6;P46821	.;MAP1B_HUMAN	W	141;141;15	ENSP00000296755:G141W;ENSP00000423444:G141W;ENSP00000423416:G15W	ENSP00000296755:G141W	G	+	1	0	MAP1B	71518248	1.000000	0.71417	0.889000	0.34880	0.993000	0.82548	9.722000	0.98770	2.691000	0.91804	0.655000	0.94253	GGG			0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000218561.6		NM_005909		T	71482492	G	T	71482492	3	4	98	1	0	0	0	0	1	0	0	0	9244	1116	39	1	435	1	MAP1B	5	71482492	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	38770229	71482492	109432768	19	7376											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070126	176070128	+	In_Frame_Del	DEL	AGA	AGA	-																															ccgagagtgggaggaggaggAgaaggaggaggaggcagcag																								rs73806058	byFrequency	TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr5:176070126_176070128delAGA	ENST00000318682.6	+	4	643_645	c.59_61delAGA	c.(58-63)gagaag>gag	p.K21del	EIF4E1B_ENST00000504597.1_In_Frame_Del_p.K21del	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	21					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			gaggaggaggagaaggaggagga	0.601																																					p.20_21del													.	EIF4E1B	24		0			c.59_61del									268,3714		18,232,1741						-3.3	0			38	20,7998		7,6,3996	no	coding	EIF4E1B	NM_001099408.1		25,238,5737	A1A1,A1R,RR		0.2494,6.7303,2.4				288,11712				SO:0001651	inframe_deletion	253314	exon4			AGGAGGAGAAGGA		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.59_61delAGA	5.37:g.176070126_176070128delAGA	ENSP00000323714:p.Lys21del		143	0	0		153	0.05	8	NM_001099408	0		0		In_Frame_Del	DEL	ENST00000318682.6	37	CCDS47345.1																																																																																					0.601	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372187.1		NM_001099408		-	176070128	AGA	-	176070126	7	5	98	1	0	1	0	1	0	0	0	0	5036	304	11	0	65	0	EIF4E1B	5	176070126	In_Frame_Del	DEL	AGA	TCGA-VF-A8AB-01A-31D-A435-10	104587634	176070126	4845134	20	7377											
DOPEY1	23033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	83847668	83847668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacctaaagtaaaacttGccagaaaaaaggatgatgac	21	6	7	7	0	0	3	0	2	0	1	0	4	0	4	2	1	3	1	2	1	9	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr6:83847668G>T	ENST00000349129.2	+	21	4167	c.3907G>T	c.(3907-3909)Gcc>Tcc	p.A1303S	DOPEY1_ENST00000237163.5_Missense_Mutation_p.A1284S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.A1294S|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1303					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGTAAAACTTGCCAGAAAAAA	0.338																																					p.A1303S													.	.			0			c.G3907T												56	56	56					6																	83847668		2202	4298	6500	SO:0001583	missense	23033	exon21			AAACTTGCCAGAA	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3907G>T	6.37:g.83847668G>T	ENSP00000195654:p.Ala1303Ser		69	0	0		53	0.13	7	NM_015018	8	0	0	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	2.583	-0.297079	0.05532	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.24723	1.84;1.86	6.16	6.16	0.99307	.	0.099611	0.64402	D	0.000002	T	0.06872	0.0175	N	0.19112	0.55	0.80722	D	1	B;B;B	0.25719	0.132;0.051;0.051	B;B;B	0.20767	0.031;0.01;0.01	T	0.07673	-1.0760	10	0.06757	T	0.87	.	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	1194;1294;1303	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	1303;1284;1284	ENSP00000195654:A1303S;ENSP00000237163:A1284S	ENSP00000237163:A1284S	A	+	1	0	DOPEY1	83904387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.126000	0.50477	2.937000	0.99478	0.650000	0.86243	GCC			0.338	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043785.2		NM_015018		T	83847668	G	T	83847668	3	4	98	1	0	0	0	0	1	0	0	0	4712	1319	46	2	3981	2	DOPEY1	6	83847668	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		83847668	87267399	21	7378											
C6orf174	387104	mdanderson.org	37	chr6	127796588	127796588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccggatgcggctgccGtcgtcctcctcgtccatgag	3	10	12	16	5	0	1	0	1	0	0	6	2	4	2	5	2	3	2	5	2	0	0	rs374876819		TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr6:127796588G>T	ENST00000525778.1	-	6	3328	c.2583C>A	c.(2581-2583)gaC>gaA	p.D861E	SOGA3_ENST00000481848.2_Missense_Mutation_p.D861E|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.D861E|SOGA3_ENST00000368268.2_Missense_Mutation_p.D861E|SOGA3_ENST00000556132.1_Missense_Mutation_p.D861E			Q5TF21	SOGA3_HUMAN	SOGA family member 3	861					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.D861D(1)									TGCGGCTGCCGTCGTCCTCCT	0.642																																					p.D861E													C6orf174,bladder,carcinoma,0,2	.		2	1	Substitution - coding silent(1)	large_intestine(1)	c.C2583A												55	67	63					6																	127796588		2169	4269	6438	SO:0001583	missense	387104	exon6			GCTGCCGTCGTCC	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.2583C>A	6.37:g.127796588G>T	ENSP00000434570:p.Asp861Glu		56	0	0		53	0.06	3	NM_001012279	1	0	0		Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400365	0.25291	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.69	2.51	0.30379	.	0.229598	0.49305	D	0.000158	T	0.03520	0.0101	N	0.03608	-0.345	0.46901	D	0.999246	B	0.14805	0.011	B	0.19666	0.026	T	0.25467	-1.0131	10	0.23302	T	0.38	-26.6669	7.2835	0.26324	0.4354:0.0:0.5646:0.0	.	861	Q5TF21	CF174_HUMAN	E	861	ENSP00000451768:D861E;ENSP00000357251:D861E;ENSP00000434570:D861E;ENSP00000435559:D861E	ENSP00000435559:D861E	D	-	3	2	C6orf174	127838281	0.968000	0.33430	1.000000	0.80357	0.998000	0.95712	0.924000	0.28777	0.778000	0.33520	0.556000	0.70494	GAC			0.642	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388246.1		NM_001012279		T	127796588	G	T	127796588	3	4	98	1	0	0	0	0	1	0	0	0	2347	1136	40	1	268	1	C6orf174	6	127796588	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	43948920	127796588	43318479	22	7379											
RBM16	22828	hgsc.bcm.edu	37	chr6	155153803	155153803	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaaagcattagtagaccTccccctgtggatgttagaga	12	9	12	8	0	0	2	0	0	0	2	1	5	1	4	3	2	1	3	3	2	4	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr6:155153803T>C	ENST00000367178.3	+	20	3666	c.3090T>C	c.(3088-3090)ccT>ccC	p.P1030P	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Silent_p.P1096P|SCAF8_ENST00000417268.1_Silent_p.P1030P	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1030	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						TTAGTAGACCTCCCCCTGTGG	0.473																																					p.P1030P													.	.			0			c.T3090C												61	62	62					6																	155153803		2203	4299	6502	SO:0001819	synonymous_variant	22828	exon20			TAGACCTCCCCCT	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.3090T>C	6.37:g.155153803T>C			79	0	0		104	0.05	5	NM_014892	127	0.02	2	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	CCDS5247.1																																																																																					0.473	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042798.1		NM_014892		C	155153803	T	C	155153803	2	2	98	1	0	0	0	0	0	0	0	1	13141	1538	54	4		4	RBM16	6	155153803	Silent	SNP	T	TCGA-VF-A8AB-01A-31D-A435-10	27357215	155153803	15961264	23	7380											
RBAK	57786	mdanderson.org	37	chr7	5104859	5104859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcaaagagtacacacagGcgagaaaccctatgaatgtt	17	7	8	9	1	1	3	1	1	0	2	1	4	1	3	1	1	2	2	1	1	5	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr7:5104859G>T	ENST00000353796.3	+	6	2096	c.1772G>T	c.(1771-1773)gGc>gTc	p.G591V	RBAK_ENST00000396912.1_Missense_Mutation_p.G591V|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	591	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GTACACACAGGCGAGAAACCC	0.378																																					p.G591V													.	RBAK	82		0			c.G1772T												44	48	46					7																	5104859		2203	4299	6502	SO:0001583	missense	57786	exon5			ACACAGGCGAGAA	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1772G>T	7.37:g.5104859G>T	ENSP00000275423:p.Gly591Val		38	0	0		44	0.09	4	NM_021163	8	0	0	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769594	0.49680	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.23552	1.9;1.9	3.76	3.76	0.43208	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000123	T	0.54175	0.1842	M	0.86864	2.845	0.43462	D	0.995663	D	0.89917	1.0	D	0.78314	0.991	T	0.68577	-0.5372	8	.	.	.	.	13.8561	0.63527	0.0:0.0:1.0:0.0	.	591	Q9NYW8	RBAK_HUMAN	V	591	ENSP00000275423:G591V;ENSP00000380120:G591V	.	G	+	2	0	RBAK	5071385	0.998000	0.40836	0.780000	0.31762	0.954000	0.61252	2.547000	0.45786	2.386000	0.81285	0.555000	0.69702	GGC			0.378	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241640.2		NM_021163		T	5104859	G	T	5104859	3	4	98	1	0	0	0	0	1	0	0	0	13123	1203	42	2	1786	2	RBAK	7	5104859	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		5104859	154033804	24	7381											
STK17A	9263	mdanderson.org	37	chr7	43622932	43622932	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggggtctgagcgggccGtgccggccgccgccgccgcc	1	3	19	18	8	1	1	0	1	1	0	1	1	1	1	8	5	2	0	8	5	0	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr7:43622932G>A	ENST00000319357.5	+	1	269	c.90G>A	c.(88-90)ccG>ccA	p.P30P	STK17A_ENST00000462448.1_Intron	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	30					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAgcgggccgtgccggccgc	0.751																																					p.P30P													.	STK17A	31		0			c.G90A												2	3	3					7																	43622932		1578	3193	4771	SO:0001819	synonymous_variant	9263	exon1			CGGGCCGTGCCGG	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"death-associated protein kinase-related 1"	604726	"serine/threonine kinase 17a (apoptosis-inducing)"			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.90G>A	7.37:g.43622932G>A			31	0	0		26	0.08	2	NM_004760	2	0	0	A4D1V6|Q8IVC8	Silent	SNP	ENST00000319357.5	37	CCDS5470.1																																																																																					0.751	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250902.1		NM_004760		A	43622932	G	A	43622932	2	1	98	1	0	0	0	0	0	0	0	1	15313	1132	40	1		1	STK17A	7	43622932	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	38518073	43622932	115515731	25	7382											
MAGI2	9863	mdanderson.org	37	chr7	77762375	77762375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgaggtggggctgttgaGctctgcgatggagaaccaaa	9	8	16	8	2	1	2	0	1	1	1	1	5	1	2	2	4	4	3	2	4	2	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr7:77762375G>T	ENST00000354212.4	-	18	3287	c.3034C>A	c.(3034-3036)Ctc>Atc	p.L1012I	MAGI2_ENST00000419488.1_Missense_Mutation_p.L998I|MAGI2_ENST00000522391.1_Missense_Mutation_p.L1012I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1012					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)				GGGCTGTTGAGCTCTGCGATG	0.592																																					p.L1012I													.	MAGI2	246		0			c.C3034A												96	102	100					7																	77762375		2203	4300	6503	SO:0001583	missense	9863	exon18			TGTTGAGCTCTGC	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.3034C>A	7.37:g.77762375G>T	ENSP00000346151:p.Leu1012Ile		35	0	0		38	0.08	3	NM_012301	0		0	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661120	0.29515	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.10763	2.94;2.94;2.84	5.76	5.76	0.90799	PDZ/DHR/GLGF (1);	0.000000	0.32459	U	0.006061	T	0.07863	0.0197	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.18263	0.002;0.021;0.008	T	0.35847	-0.9772	10	0.19590	T	0.45	.	12.8594	0.57906	0.075:0.0:0.925:0.0	.	1012;998;1012	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	I	998;1012;1012;1012	ENSP00000405766:L998I;ENSP00000346151:L1012I;ENSP00000428389:L1012I	ENSP00000346151:L1012I	L	-	1	0	MAGI2	77600311	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.294000	0.51787	2.726000	0.93360	0.655000	0.94253	CTC			0.592	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253197.3		NM_012301		T	77762375	G	T	77762375	3	4	98	1	0	0	0	0	1	0	0	0	9207	971	34	2	1353	2	MAGI2	7	77762375	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	34139443	77762375	81376288	26	7383											
FAM49B	51571	mdanderson.org	37	chr8	130863111	130863111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgactctgcatacactaGccattgtgcttaaacaatct	12	12	6	11	0	2	1	0	1	2	0	2	1	2	1	1	0	5	3	1	0	5	4			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr8:130863111G>T	ENST00000519824.2	-	9	956	c.683C>A	c.(682-684)gCt>gAt	p.A228D	FAM49B_ENST00000517654.1_Missense_Mutation_p.A228D|FAM49B_ENST00000519540.1_Missense_Mutation_p.A228D|FAM49B_ENST00000522941.1_Missense_Mutation_p.A82D|FAM49B_ENST00000519110.1_Missense_Mutation_p.A228D|FAM49B_ENST00000522746.1_Missense_Mutation_p.A228D|FAM49B_ENST00000522250.1_Missense_Mutation_p.A82D|FAM49B_ENST00000401979.2_Missense_Mutation_p.A228D|FAM49B_ENST00000523509.1_Missense_Mutation_p.A228D	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	228						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GCATACACTAGCCATTGTGCT	0.323																																					p.A228D													.	FAM49B	36		0			c.C683A												106	100	102					8																	130863111		2203	4300	6503	SO:0001583	missense	51571	exon10			ACACTAGCCATTG	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.683C>A	8.37:g.130863111G>T	ENSP00000429150:p.Ala228Asp		48	0	0		46	0.07	3	NM_001256763	323	0	0	Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	ENST00000519824.2	37	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473669	0.96291	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941;ENST00000311292	T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	M	0.87180	2.865	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	T	0.79701	-0.1693	10	0.87932	D	0	-10.9395	19.8676	0.96824	0.0:0.0:1.0:0.0	.	228	Q9NUQ9	FA49B_HUMAN	D	228;228;228;228;82;228;228;228;82;182	ENSP00000428117:A228D;ENSP00000429802:A228D;ENSP00000384880:A228D;ENSP00000429078:A228D;ENSP00000429978:A82D;ENSP00000429150:A228D;ENSP00000430674:A228D;ENSP00000429499:A228D;ENSP00000430433:A82D	ENSP00000311651:A182D	A	-	2	0	FAM49B	130932293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GCT			0.323	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380390.2		NM_016623		T	130863111	G	T	130863111	3	4	98	1	0	0	0	0	1	0	0	0	5589	971	34	2	307	2	FAM49B	8	130863111	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		130863111	15500911	27	7384											
FAM166B	730112	mdanderson.org	37	chr9	35562684	35562684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggtccctgtcatccatgGagtagggagaagcctgtgag	9	8	16	8	0	1	2	1	1	0	1	3	5	3	3	3	3	1	1	3	3	2	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr9:35562684G>T	ENST00000399742.2	-	4	576	c.506C>A	c.(505-507)tCc>tAc	p.S169Y	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	169										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						GTCATCCATGGAGTAGGGAGA	0.587																																					p.S169Y													.	FAM166B	19		0			c.C506A												55	63	60					9																	35562684		2017	4169	6186	SO:0001583	missense	730112	exon4			TCCATGGAGTAGG	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.506C>A	9.37:g.35562684G>T	ENSP00000382646:p.Ser169Tyr		66	0	0		51	0.06	3	NM_001164310	0		0	A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	37	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	G	4.786	0.146219	0.09134	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.12	5.12	0.69794	.	0.517201	0.14493	U	0.316222	T	0.62539	0.2436	M	0.70595	2.14	0.32772	N	0.503592	D;P;P	0.61697	0.99;0.911;0.956	P;P;P	0.57911	0.829;0.507;0.564	T	0.61681	-0.7013	9	0.02654	T	1	-20.9308	14.4039	0.67068	0.0:0.0:1.0:0.0	.	169;169;169	B7ZW33;A8MTA8;A8MTA8-2	.;F166B_HUMAN;.	Y	169	.	ENSP00000382646:S169Y	S	-	2	0	FAM166B	35552684	0.998000	0.40836	1.000000	0.80357	0.442000	0.32017	2.098000	0.41757	2.518000	0.84900	0.563000	0.77884	TCC			0.587	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336563.1		NM_001099951		T	35562684	G	T	35562684	3	4	98	1	0	0	0	0	1	0	0	0	5492	1174	41	3	152	3	FAM166B	9	35562684	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		35562684	105650747	28	7385											
JMJD1C	221037	broad.mit.edu	37	chr10	64958278	64958278	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaacttccttaccatccTttttcacccaggacaaagct	11	14	3	13	0	1	0	1	0	0	0	3	1	3	1	4	1	3	1	4	1	3	6			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr10:64958278T>C	ENST00000399262.2	-	12	5704	c.5486A>G	c.(5485-5487)aAg>aGg	p.K1829R	JMJD1C_ENST00000402544.1_Missense_Mutation_p.K1610R|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K1647R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1829					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)					CTTACCATCCTTTTTCACCCA	0.294																																					p.K1829R													.	JMJD1C	347		0			c.A5486G												115	117	117					10																	64958278		1828	4062	5890	SO:0001583	missense	221037	exon12			CCATCCTTTTTCA	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.5486A>G	10.37:g.64958278T>C	ENSP00000382204:p.Lys1829Arg		129	0	0		118	0.03	3	NM_032776	31	0	0	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348496	0.82132	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.55930	0.85;0.49;0.85	5.17	5.17	0.71159	.	0.046729	0.85682	D	0.000000	T	0.64057	0.2564	L	0.39566	1.225	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.85130	0.997;0.874	T	0.63060	-0.6721	10	0.39692	T	0.17	-13.4039	15.2997	0.73936	0.0:0.0:0.0:1.0	.	1829;1647	Q15652;A0T124	JHD2C_HUMAN;.	R	1829;1610;1647	ENSP00000382204:K1829R;ENSP00000384990:K1610R;ENSP00000444682:K1647R	ENSP00000382204:K1829R	K	-	2	0	JMJD1C	64628284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.908000	0.87438	2.073000	0.62155	0.397000	0.26171	AAG			0.294	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048249.2		NM_004241		C	64958278	T	C	64958278	3	2	98	1	0	0	0	0	1	0	0	0	7965	1609	56	4	2196	4	JMJD1C	10	64958278	Missense_Mutation	SNP	T	TCGA-VF-A8AB-01A-31D-A435-10		64958278	70576469	29	7386											
CNNM1	26507	broad.mit.edu	37	chr10	101124187	101124187	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagggtaaagtggaggTggaggttggtaaggaaggcc	10	9	18	4	0	0	0	0	0	0	0	1	3	1	3	2	8	0	3	2	8	4	4			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr10:101124187T>G	ENST00000356713.4	+	5	2331	c.2042T>G	c.(2041-2043)gTg>gGg	p.V681G	CNNM1_ENST00000370528.3_Missense_Mutation_p.V610G|CNNM1_ENST00000370534.4_Missense_Mutation_p.V316G|CNNM1_ENST00000446890.1_Missense_Mutation_p.V610G	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	681					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.V316G(1)		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)		AAAGTGGAGGTGGAGGTTGGT	0.433																																					p.V681G													CNNM1,extremity,malignant_melanoma,0,1	CNNM1	101	1	1	Substitution - Missense(1)	skin(1)	c.T2042G												88	69	75					10																	101124187		2203	4300	6503	SO:0001583	missense	26507	exon5			TGGAGGTGGAGGT	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.2042T>G	10.37:g.101124187T>G	ENSP00000349147:p.Val681Gly		49	0.2040816327	10		45	0.24	11	NM_020348	0		0	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242197	0.79912	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;D	0.90676	-2.65;-2.71;-2.63;-1.6	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96112	0.8733	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.999;0.996	D;D;D;D	0.81914	0.995;0.979;0.971;0.969	D	0.96895	0.9656	10	0.87932	D	0	-22.9685	15.9362	0.79712	0.0:0.0:0.0:1.0	.	316;681;316;681	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	G	681;610;610;316;134	ENSP00000349147:V681G;ENSP00000406492:V610G;ENSP00000359559:V610G;ENSP00000359565:V316G	ENSP00000349147:V681G	V	+	2	0	CNNM1	101114177	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.841000	0.86834	2.170000	0.68504	0.379000	0.24179	GTG			0.433	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049792.2		NM_020348		G	101124187	T	G	101124187	3	3	98	1	0	0	0	0	1	0	0	0	3614	1696	59	4	2060	4	CNNM1	10	101124187	Missense_Mutation	SNP	T	TCGA-VF-A8AB-01A-31D-A435-10	36165909	101124187	34410560	30	7387											
MUC2	4583	mdanderson.org	37	chr11	1093304	1093304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaccaccactacggtgaCcccaaccccaacacccaccg	12	2	4	23	2	0	1	0	1	0	0	0	1	0	1	9	1	3	0	9	1	3	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:1093304C>T	ENST00000441003.2	+	30	5150	c.5123C>T	c.(5122-5124)aCc>aTc	p.T1708I	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.T1675I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	actacggtgaccccaacccca	0.637																																					p.T1708I													.	MUC2	614		0			c.C5123T																																									SO:0001583	missense	4583	exon30			CGGTGACCCCAAC	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.5123C>T	11.37:g.1093304C>T	ENSP00000415183:p.Thr1708Ile		27	0	0		33	0.09	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168188	0.06461	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11063	2.81;2.83	1.6	1.6	0.23607	.	1.229070	0.07278	U	0.870357	T	0.07458	0.0188	.	.	.	0.09310	N	1	P	0.50617	0.937	B	0.37780	0.258	T	0.33904	-0.9850	9	0.37606	T	0.19	.	6.598	0.22685	0.0:1.0:0.0:0.0	.	1708	E7EUV1	.	I	1708;1675	ENSP00000415183:T1708I;ENSP00000351956:T1675I	ENSP00000351956:T1675I	T	+	2	0	MUC2	1083304	0.000000	0.05858	0.007000	0.13788	0.026000	0.11368	0.014000	0.13333	0.903000	0.36546	0.184000	0.17185	ACC			0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1093304	C	T	1093304	3	4	98	1	0	0	0	0	1	0	0	0	9991	507	18	3	5241	3	MUC2	11	1093304	Missense_Mutation	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10		1093304	133913212	31	7388											
MOB2	81532	broad.mit.edu	37	chr11	1501963	1501963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccccgcgcactgttgctgGccagccactcgttaaggtca	6	8	11	16	3	1	0	1	0	0	0	2	0	1	0	4	2	2	4	4	2	1	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:1501963G>C	ENST00000329957.6	-	2	452	c.263C>G	c.(262-264)gCc>gGc	p.A88G	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	57					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						ACTGTTGCTGGCCAGCCACTC	0.682																																					p.A88G													.	MOB2	23		0			c.C263G												25	28	28					11																	1501963		1955	4134	6089	SO:0001583	missense	81532	exon2			TTGCTGGCCAGCC		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.263C>G	11.37:g.1501963G>C	ENSP00000328694:p.Ala88Gly		84	0.0476190476	4		65	0.12	8	NM_001172223	65	0.02	1	B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	37	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881211	0.91740	.	.	ENSG00000182208	ENST00000329957	.	.	.	5.36	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90294	0.4325	9	0.87932	D	0	-30.4157	14.0951	0.65016	0.0725:0.0:0.9275:0.0	.	88;57	E9PDA5;Q70IA6	.;MOB2_HUMAN	G	88	.	ENSP00000328694:A88G	A	-	2	0	AC091196.1	1458539	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.492000	0.97957	1.266000	0.44231	0.462000	0.41574	GCC			0.682	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000384770.1		NM_053005		C	1501963	G	C	1501963	3	2	98	1	0	0	0	0	1	0	0	0	9697	1203	42	5	559	5	MOB2	11	1501963	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	408659	1501963	133504553	32	7389											
EIF3F	8665	mdanderson.org	37	chr11	8013657	8013657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgacatggaatttgctaaGaatatgtatgaactgcataa	15	13	9	4	0	0	3	0	2	0	1	0	4	0	4	0	1	3	4	0	1	7	6			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:8013657G>T	ENST00000533626.1	+	5	1088	c.462G>T	c.(460-462)aaG>aaT	p.K154N	EIF3F_ENST00000309828.4_Missense_Mutation_p.K154N|EIF3F_ENST00000449102.2_Missense_Mutation_p.K5N|EIF3F_ENST00000537635.1_Missense_Mutation_p.K169N					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)		AATTTGCTAAGAATATGTATG	0.453																																					p.K154N													.	EIF3F	23		0			c.G462T												58	54	55					11																	8013657		2201	4296	6497	SO:0001583	missense	8665	exon3			TGCTAAGAATATG	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.462G>T	11.37:g.8013657G>T	ENSP00000431800:p.Lys154Asn		41	0	0		39	0.08	3	NM_003754	229	0	0		Missense_Mutation	SNP	ENST00000533626.1	37	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614969	0.46631	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	L	0.58925	1.835	0.58432	D	0.999998	B	0.25486	0.127	B	0.31869	0.137	T	0.58423	-0.7639	10	0.66056	D	0.02	-22.3421	15.588	0.76502	0.0:0.0:1.0:0.0	.	154	O00303	EIF3F_HUMAN	N	154;169;154;104;5	ENSP00000431800:K154N;ENSP00000442283:K169N;ENSP00000310040:K154N;ENSP00000396929:K5N	ENSP00000310040:K154N	K	+	3	2	EIF3F	7970233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.966000	0.49208	2.452000	0.82932	0.644000	0.83932	AAG			0.453	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000385713.2		NM_003754		T	8013657	G	T	8013657	3	4	98	1	0	0	0	0	1	0	0	0	5023	933	33	3	472	3	EIF3F	11	8013657	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	6511694	8013657	126992859	33	7390											
SBF2	81846	mdanderson.org	37	chr11	9801975	9801975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgggcatcaggcatcaGagatacaactctggatcttg	12	9	10	10	0	4	1	2	0	2	1	4	3	4	2	1	3	2	2	1	3	2	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:9801975G>T	ENST00000256190.8	-	40	5677	c.5540C>A	c.(5539-5541)tCt>tAt	p.S1847Y	SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1847	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		TCAGGCATCAGAGATACAACT	0.478																																					p.S1847Y													.	SBF2	146		0			c.C5540A												131	110	117					11																	9801975		2201	4294	6495	SO:0001583	missense	81846	exon40			GCATCAGAGATAC	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.5540C>A	11.37:g.9801975G>T	ENSP00000256190:p.Ser1847Tyr		60	0	0		53	0.06	3	NM_030962	40	0	0	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736827	0.89482	.	.	ENSG00000133812	ENST00000256190	T	0.78003	-1.14	5.93	5.01	0.66863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.049759	0.85682	D	0.000000	D	0.88288	0.6396	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.89235	0.3580	10	0.72032	D	0.01	.	14.5412	0.67997	0.0697:0.0:0.9303:0.0	.	1847	Q86WG5	MTMRD_HUMAN	Y	1847	ENSP00000256190:S1847Y	ENSP00000256190:S1847Y	S	-	2	0	SBF2	9758551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.907000	0.87430	2.814000	0.96858	0.655000	0.94253	TCT			0.478	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386911.2		NM_030962		T	9801975	G	T	9801975	3	4	98	1	0	0	0	0	1	0	0	0	13882	942	33	3	13	3	SBF2	11	9801975	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	1788318	9801975	125204541	34	7391											
FOLH1	2346	bcgsc.ca	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				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)	GCCTATAAGCATATTCTGAAA	0.343																																					p.Y277Y													.	FOLH1	141		0			c.T831C												61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346	exon7			ATAAGCATATTCT	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.831T>C	11.37:g.49204790A>G			196	0	0		167	0.07	12	NM_004476	3	0	0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																					0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390896.1		NM_004476		G	49204790	A	G	49204790	2	3	98	1	0	0	0	0	0	0	0	1	5992	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-VF-A8AB-01A-31D-A435-10	39402815	49204790	85801726	35	7392											
OR5F1	338674	mdanderson.org	37	chr11	55761334	55761334	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtctcaggtaagtataGatgcaggtggcatagaacag	13	9	13	6	0	1	2	1	0	1	2	2	2	1	2	0	4	2	4	0	4	6	5			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:55761334G>T	ENST00000278409.1	-	1	767	c.768C>A	c.(766-768)atC>atA	p.I256I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	256					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)					GGTAAGTATAGATGCAGGTGG	0.483																																					p.I256I													.	OR5F1	116		0			c.C768A												93	91	92					11																	55761334		2201	4296	6497	SO:0001819	synonymous_variant	338674	exon1			AGTATAGATGCAG	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.768C>A	11.37:g.55761334G>T			92	0	0		92	0.04	4	NM_003697	0		0	Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	CCDS31515.1																																																																																					0.483	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391532.1		NM_003697		T	55761334	G	T	55761334	2	4	98	1	0	0	0	0	0	0	0	1	11175	932	33	3		3	OR5F1	11	55761334	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	6556544	55761334	79245182	36	7393											
MED19	51075	mdanderson.org	37	chr11	57479594	57479594	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtccgaagccgagtgCggttgggggcggtggtgggt	3	9	21	8	4	0	0	0	0	0	0	2	2	2	0	3	7	2	1	3	7	1	1	rs202123309		TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:57479594C>T	ENST00000278422.4	+	0	0				TMX2_ENST00000378312.4_5'Flank|TMX2-CTNND1_ENST00000528395.1_5'Flank|MED19_ENST00000431606.2_Missense_Mutation_p.A20T|MED19_ENST00000337672.2_Missense_Mutation_p.A20T	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2						cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						AAGCCGAGTGCGGTTGGGGGC	0.721																																					p.A20T													.	MED19	15		0			c.G58A												11	12	11					11																	57479594		1951	3822	5773	SO:0001631	upstream_gene_variant	219541	exon1			CGAGTGCGGTTGG	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200		11.37:g.57479594C>T	Exception_encountered		71	0	0		62	0.05	3	NM_153450	17	0	0	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529081	0.85706	.	.	ENSG00000156603	ENST00000337672;ENST00000431606	.	.	.	5.56	2.54	0.30619	.	0.396250	0.28031	N	0.016879	T	0.25975	0.0633	L	0.27053	0.805	0.09310	N	0.999998	B;B	0.19073	0.001;0.033	B;B	0.15052	0.001;0.012	T	0.19484	-1.0304	9	0.66056	D	0.02	-5.4252	4.9475	0.13997	0.1531:0.6183:0.1478:0.0808	.	20;20	A0JLT2-2;A0JLT2	.;MED19_HUMAN	T	20	.	ENSP00000337340:A20T	A	-	1	0	MED19	57236170	0.806000	0.28996	0.023000	0.16930	0.925000	0.55904	0.991000	0.29654	0.250000	0.21479	0.491000	0.48974	GCA			0.721	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393708.1		NM_015959		T	57479594	C	T	57479594	1	4	98	0	1	0	0	0	0	0	0	0	9453	768	27	1		1	MED19	11	57479594	5'Flank	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	1718260	57479594	77526922	37	7394											
DDB1	1642	broad.mit.edu	37	chr11	61071379	61071379	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgtaggcaagcagcagCactgagcgcataaggtcgcc	10	6	14	11	2	0	1	0	1	0	0	1	1	0	1	1	3	4	7	1	3	3	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:61071379C>A	ENST00000301764.7	-	22	3187	c.2790G>T	c.(2788-2790)gtG>gtT	p.V930V	DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000538470.1_5'Flank|DDB1_ENST00000450997.2_Silent_p.V241V	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	930	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAAGCAGCAGCACTGAGCGCA	0.567								Nucleotide excision repair (NER)																													p.V930V													.	DDB1	100		0			c.G2790T												166	156	159					11																	61071379		2203	4299	6502	SO:0001819	synonymous_variant	1642	exon22			CAGCAGCACTGAG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2790G>T	11.37:g.61071379C>A			109	0.0183486239	2		111	0.06	7	NM_001923	838	0.01	11	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	CCDS31576.1																																																																																					0.567	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398816.1		NM_001923		A	61071379	C	A	61071379	2	1	98	1	0	0	0	0	0	0	0	1	4325	697	25	2		2	DDB1	11	61071379	Silent	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	3591785	61071379	73935137	38	7395											
PITPNM1	9600	mdanderson.org	37	chr11	67265611	67265611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaaccgctgacctgcccaCagaagccggcaccctcaggt	9	5	9	18	2	1	2	1	1	0	1	1	2	1	2	6	2	3	2	6	2	2	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:67265611C>A	ENST00000534749.1	-	10	1855	c.1667G>T	c.(1666-1668)tGt>tTt	p.C556F	PITPNM1_ENST00000436757.2_Missense_Mutation_p.C556F|PITPNM1_ENST00000356404.3_Missense_Mutation_p.C556F			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	556					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						GACCTGCCCACAGAAGCCGGC	0.657																																					p.C556F	GBM(28;144 709 4607 5525)												.	PITPNM1	84		0			c.G1667T												42	41	42					11																	67265611		2200	4294	6494	SO:0001583	missense	9600	exon11			TGCCCACAGAAGC	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.1667G>T	11.37:g.67265611C>A	ENSP00000437286:p.Cys556Phe		30	0	0		24	0.08	2	NM_001130848	57	0	0	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	c	13.99	2.401989	0.42613	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.18657	2.2;2.2;2.2	4.94	3.98	0.46160	.	0.000000	0.56097	D	0.000031	T	0.19005	0.0456	N	0.14661	0.345	0.25513	N	0.987445	P;P	0.49696	0.927;0.88	P;B	0.49999	0.628;0.438	T	0.05801	-1.0863	10	0.72032	D	0.01	-22.2056	12.7992	0.57576	0.0:0.6916:0.3084:0.0	.	556;556	O00562-2;O00562	.;PITM1_HUMAN	F	556	ENSP00000437286:C556F;ENSP00000398787:C556F;ENSP00000348772:C556F	ENSP00000348772:C556F	C	-	2	0	PITPNM1	67022187	0.025000	0.19082	0.997000	0.53966	0.684000	0.39900	0.698000	0.25571	2.293000	0.77203	0.556000	0.70494	TGT			0.657	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395520.1		NM_004910		A	67265611	C	A	67265611	3	1	98	1	0	0	0	0	1	0	0	0	11967	478	17	3	2123	3	PITPNM1	11	67265611	Missense_Mutation	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	6194232	67265611	67740905	39	7396											
FAM181B	220382	mdanderson.org	37	chr11	82443763	82443763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgcggggggcagtcaGggggctctttttggtcgggg	2	8	21	10	4	2	0	1	0	1	0	3	0	2	0	2	8	0	2	2	8	0	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr11:82443763G>T	ENST00000329203.3	-	1	1143	c.1009C>A	c.(1009-1011)Ctg>Atg	p.L337M		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	337	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						GGGGCAGTCAGGGGGCTCTTT	0.711																																					p.L337M													.	FAM181B	14		0			c.C1009A												1	1	1					11																	82443763		890	2221	3111	SO:0001583	missense	220382	exon1			CAGTCAGGGGGCT	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1009C>A	11.37:g.82443763G>T	ENSP00000365295:p.Leu337Met		49	0	0		49	0.06	3	NM_175885	0		0	B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	G	3.344	-0.134067	0.06711	.	.	ENSG00000182103	ENST00000329203	T	0.42513	0.97	5.03	1.97	0.26223	.	1.007950	0.07991	U	0.987060	T	0.40619	0.1124	L	0.27053	0.805	0.09310	N	1	P	0.51791	0.948	P	0.53102	0.718	T	0.26395	-1.0104	9	.	.	.	.	7.4692	0.27338	0.0903:0.3153:0.5944:0.0	.	337	A6NEQ2	F181B_HUMAN	M	337	ENSP00000365295:L337M	.	L	-	1	2	FAM181B	82121411	.	.	0.001000	0.08648	0.078000	0.17371	.	.	0.114000	0.18032	0.491000	0.48974	CTG			0.711	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391626.1		NM_175885		T	82443763	G	T	82443763	3	4	98	1	0	0	0	0	1	0	0	0	5519	991	35	3	275	3	FAM181B	11	82443763	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	15178152	82443763	52562753	40	7397											
FGF23	8074	mdanderson.org	37	chr12	4488714	4488714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgcagacgctgcacaagGcacagacccagagcctgagg	11	4	13	13	1	0	4	0	1	0	3	0	4	0	4	2	2	4	5	2	2	1	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr12:4488714G>T	ENST00000237837.1	-	1	180	c.35C>A	c.(34-36)gCc>gAc	p.A12D		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	12					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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 bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCTGCACAAGGCACAGACCCA	0.632																																					p.A12D													.	FGF23	57		0			c.C35A												41	36	38					12																	4488714		2203	4300	6503	SO:0001583	missense	8074	exon1			CACAAGGCACAGA	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.35C>A	12.37:g.4488714G>T	ENSP00000237837:p.Ala12Asp		27	0	0		34	0.12	4	NM_020638	0		0	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686145	0.29962	.	.	ENSG00000118972	ENST00000237837	T	0.80909	-1.43	3.74	-2.81	0.05805	.	1.544930	0.03309	N	0.190216	T	0.62245	0.2412	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.27170	0.077	T	0.55321	-0.8159	10	0.59425	D	0.04	-5.9389	6.8058	0.23777	0.6288:0.0:0.2447:0.1265	.	12	Q9GZV9	FGF23_HUMAN	D	12	ENSP00000237837:A12D	ENSP00000237837:A12D	A	-	2	0	FGF23	4358975	0.016000	0.18221	0.040000	0.18447	0.979000	0.70002	0.024000	0.13555	-0.565000	0.06061	0.655000	0.94253	GCC			0.632	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398936.1				T	4488714	G	T	4488714	3	4	98	1	0	0	0	0	1	0	0	0	5865	1203	42	2	732	2	FGF23	12	4488714	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		4488714	129363181	41	7398											
NAV3	89795	bcgsc.ca;mdanderson.org	37	chr12	78513322	78513322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaaaaccagtttggacGgttcacagaatcaggatgat	15	8	12	6	1	2	3	2	1	0	2	2	6	2	5	1	4	1	2	1	4	3	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr12:78513322G>T	ENST00000397909.2	+	15	3519	c.3346G>T	c.(3346-3348)Ggt>Tgt	p.G1116C	NAV3_ENST00000536525.2_Missense_Mutation_p.G1116C|NAV3_ENST00000228327.6_Missense_Mutation_p.G1116C|NAV3_ENST00000266692.7_Missense_Mutation_p.G1116C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1116	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						CAGTTTGGACGGTTCACAGAA	0.483										HNSCC(70;0.22)																											p.G1116C													.	NAV3	506		0			c.G3346T												85	86	85					12																	78513322		1999	4173	6172	SO:0001583	missense	89795	exon15			TTGGACGGTTCAC	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.3346G>T	12.37:g.78513322G>T	ENSP00000381007:p.Gly1116Cys		110	0	0		126	0.04	5	NM_014903	0		0	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480833|4.480833	0.84747|0.84747	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.40908|.	U|.	0.000981|.	T|T	0.75766|0.75766	0.3894|0.3894	M|M	0.66939|0.66939	2.045|2.045	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|.	T|T	0.72984|0.72984	-0.4125|-0.4125	10|5	0.49607|.	T|.	0.09|.	-18.0188|-18.0188	19.949|19.949	0.97192|0.97192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1116;1116;1116;1116|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	C|L	1116|187	ENSP00000446132:G1116C;ENSP00000381007:G1116C;ENSP00000228327:G1116C;ENSP00000266692:G1116C|.	ENSP00000228327:G1116C|.	G|R	+|+	1|2	0|0	NAV3|NAV3	77037453|77037453	1.000000|1.000000	0.71417|0.71417	0.876000|0.876000	0.34364|0.34364	0.983000|0.983000	0.72400|0.72400	9.582000|9.582000	0.98214|0.98214	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GGT|CGG			0.483	NAV3-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000406812.1		NM_001024383		T	78513322	G	T	78513322	3	4	98	1	0	0	0	0	1	0	0	0	10201	1116	39	1	3404	1	NAV3	12	78513322	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	74024608	78513322	55338573	42	7399											
SART3	9733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	108938917	108938917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaccacaggtactcacccGagcagcttccacaatcgcac	13	5	6	17	2	1	0	1	0	0	0	3	1	2	0	3	1	4	4	3	1	3	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr12:108938917G>A	ENST00000228284.3	-	4	961	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SART3_ENST00000552221.1_5'Flank|SART3_ENST00000431469.2_Missense_Mutation_p.R243W	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	243					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GTACTCACCCGAGCAGCTTCC	0.483									Porokeratosis																												p.R243W													.	.			0			c.C727T												177	178	178					12																	108938917		2203	4300	6503	SO:0001583	missense	9733	exon4	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	TCACCCGAGCAGC	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.727C>T	12.37:g.108938917G>A	ENSP00000228284:p.Arg243Trp		198	0	0		193	0.25	49	NM_014706	63	0.29	18	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313642	0.95655	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815;ENST00000550322;ENST00000550619	T;T;T;T;T	0.50813	1.19;1.19;1.31;1.19;0.73	5.97	5.97	0.96955	.	0.109583	0.64402	D	0.000004	T	0.64091	0.2567	L	0.49778	1.585	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	P;P;P;P	0.62298	0.9;0.784;0.623;0.714	T	0.63717	-0.6574	10	0.87932	D	0	-30.3605	20.428	0.99075	0.0:0.0:1.0:0.0	.	191;243;243;243	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	W	243;243;191;243;111;111	ENSP00000228284:R243W;ENSP00000414453:R243W;ENSP00000449386:R243W;ENSP00000447324:R111W;ENSP00000449602:R111W	ENSP00000228284:R243W	R	-	1	2	SART3	107463047	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.623000	0.90957	2.837000	0.97791	0.655000	0.94253	CGG			0.483	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404094.1				A	108938917	G	A	108938917	3	1	98	1	0	0	0	0	1	0	0	0	13870	1057	37	1	2228	1	SART3	12	108938917	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	30425595	108938917	24912978	43	7400											
OAS1	4938	broad.mit.edu	37	chr12	113354329	113354329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgtaagaagaagcttGggaagctgccacctcagtat	12	9	11	9	0	2	2	2	0	0	2	2	3	2	3	2	1	3	4	2	1	5	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr12:113354329G>T	ENST00000202917.5	+	4	933	c.670G>T	c.(670-672)Ggg>Tgg	p.G224W	OAS1_ENST00000551241.1_Missense_Mutation_p.G224W|OAS1_ENST00000445409.2_Missense_Mutation_p.G224W|OAS1_ENST00000452357.2_Missense_Mutation_p.G224W|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	224					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	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)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GAAGAAGCTTGGGAAGCTGCC	0.473																																					p.G224W													.	OAS1	128		0			c.G670T												59	57	58					12																	113354329		2203	4300	6503	SO:0001583	missense	4938	exon4			AAGCTTGGGAAGC	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.670G>T	12.37:g.113354329G>T	ENSP00000202917:p.Gly224Trp		115	0	0		132	0.03	4	NM_001032409	188	0	0	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494446	0.44352	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000550883;ENST00000551241;ENST00000377508;ENST00000550689	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	4.53	3.6	0.41247	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.069840	0.07277	N	0.870097	T	0.66992	0.2846	M	0.84773	2.715	0.22412	N	0.99913	D;D;D;P;D	0.89917	1.0;0.999;1.0;0.922;0.999	D;D;D;B;D	0.83275	0.996;0.933;0.996;0.395;0.989	T	0.43507	-0.9387	10	0.87932	D	0	-21.871	7.0888	0.25272	0.1328:0.0:0.8672:0.0	.	224;224;224;224;224	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	W	224;224;224;66;224;224;220	ENSP00000202917:G224W;ENSP00000388001:G224W;ENSP00000415721:G224W;ENSP00000450286:G66W;ENSP00000448790:G224W;ENSP00000448348:G220W	ENSP00000202917:G224W	G	+	1	0	OAS1	111838712	0.000000	0.05858	0.690000	0.30148	0.792000	0.44763	0.160000	0.16462	1.056000	0.40484	0.563000	0.77884	GGG			0.473	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405896.2				T	113354329	G	T	113354329	3	4	98	1	0	0	0	0	1	0	0	0	10816	1348	47	3	684	3	OAS1	12	113354329	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	4415412	113354329	20497566	44	7401											
RASAL1	8437	mdanderson.org	37	chr12	113565942	113565942	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcaccgtgtactccTccccccagaaggggcccagg	7	5	13	16	1	0	1	0	0	0	1	2	1	2	1	6	4	2	3	6	4	2	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr12:113565942T>C	ENST00000261729.5	-	4	479	c.164A>G	c.(163-165)gAg>gGg	p.E55G	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.E55G|RASAL1_ENST00000548055.1_Missense_Mutation_p.E55G|RASAL1_ENST00000546530.1_Missense_Mutation_p.E55G			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	55	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|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						CGTGTACTCCTCCCCCCAGAA	0.617																																					p.E55G													.	RASAL1	89		0			c.A164G												183	183	183					12																	113565942		2203	4300	6503	SO:0001583	missense	8437	exon4			TACTCCTCCCCCC	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.164A>G	12.37:g.113565942T>C	ENSP00000261729:p.Glu55Gly		44	0	0		47	0.06	3	NM_001193520	5	0	0	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793246	0.90453	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.12	5.12	0.69794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	H	0.97415	4	0.46396	D	0.999023	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;0.999;1.0;1.0;1.0;0.999	D	0.94502	0.7710	10	0.87932	D	0	.	13.8909	0.63738	0.0:0.0:0.0:1.0	.	55;55;55;67;55;55;55	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	G	55	ENSP00000450244:E55G;ENSP00000261729:E55G;ENSP00000395920:E55G;ENSP00000448510:E55G	ENSP00000261729:E55G	E	-	2	0	RASAL1	112050325	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.259000	0.78381	1.939000	0.56221	0.402000	0.26972	GAG			0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405522.2		NM_004658		C	113565942	T	C	113565942	3	2	98	1	0	0	0	0	1	0	0	0	13086	1551	54	4	2326	4	RASAL1	12	113565942	Missense_Mutation	SNP	T	TCGA-VF-A8AB-01A-31D-A435-10	211613	113565942	20285953	45	7402											
TPCN1	53373	mdanderson.org	37	chr12	113714756	113714756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcgacaccttcaatgaCattgagaaacgcaagttcaa	14	10	8	9	2	2	2	2	2	0	1	3	4	2	2	1	0	1	3	1	0	4	4			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr12:113714756C>T	ENST00000335509.6	+	11	1289	c.975C>T	c.(973-975)gaC>gaT	p.D325D	TPCN1_ENST00000541517.1_Silent_p.D397D|TPCN1_ENST00000550785.1_Silent_p.D397D|TPCN1_ENST00000392569.4_Silent_p.D257D	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	325					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCTTCAATGACATTGAGAAAC	0.557																																					p.D397D													.	TPCN1	109		0			c.C1191T												184	179	181					12																	113714756		2203	4300	6503	SO:0001819	synonymous_variant	53373	exon12			CAATGACATTGAG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.975C>T	12.37:g.113714756C>T			48	0	0		48	0.06	3	NM_001143819	60	0.07	4	A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	9.757	1.169083	0.21621	.	.	ENSG00000186815	ENST00000546781	.	.	.	5.56	4.68	0.58851	.	.	.	.	.	T	0.62146	0.2404	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60347	-0.7281	4	.	.	.	-49.0722	10.4428	0.44474	0.0:0.8503:0.0:0.1497	.	.	.	.	Y	12	.	.	H	+	1	0	TPCN1	112199139	0.975000	0.34042	1.000000	0.80357	0.925000	0.55904	0.109000	0.15417	1.352000	0.45808	0.609000	0.83330	CAT			0.557	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405156.3		NM_017901		T	113714756	C	T	113714756	2	4	98	1	0	0	0	0	0	0	0	1	16419	477	17	3		3	TPCN1	12	113714756	Silent	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	148814	113714756	20137139	46	7403											
EP400	57634	hgsc.bcm.edu	37	chr12	132547105	132547105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaGcagcagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr12:132547105G>A	ENST00000333577.4	+	48	8410	c.8301G>A	c.(8299-8301)caG>caA	p.Q2767Q	EP400_ENST00000330386.6_Silent_p.Q2650Q|EP400_ENST00000389562.2_Silent_p.Q2730Q|EP400_ENST00000389561.2_Silent_p.Q2731Q|EP400_ENST00000332482.4_Silent_p.Q2694Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2767	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.587																																					p.Q2731Q													.	.			0			c.G8193A												22	27	25					12																	132547105		2072	4019	6091	SO:0001819	synonymous_variant	57634	exon47			GCAGCAGCAGCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8301G>A	12.37:g.132547105G>A			96	0	0		101	0.09	9	NM_015409	33	0	0	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																						0.587	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015409		A	132547105	G	A	132547105	2	1	98	1	0	0	0	0	0	0	0	1	5156	962	34	2		2	EP400	12	132547105	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	18832349	132547105	1304790	47	7404											
HSPH1	10808	mdanderson.org	37	chr13	31727066	31727066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaacacagatcgcctctcaGcatctgtaaagaaggagggg	13	7	11	10	1	2	2	1	0	2	2	4	3	2	3	1	3	2	2	1	3	4	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr13:31727066G>T	ENST00000320027.5	-	5	796	c.452C>A	c.(451-453)gCt>gAt	p.A151D	HSPH1_ENST00000380405.4_Missense_Mutation_p.A151D|HSPH1_ENST00000445273.2_Missense_Mutation_p.A153D|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Missense_Mutation_p.A110D	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	151					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)		TCGCCTCTCAGCATCTGTAAA	0.363																																					p.A151D													.	HSPH1	65		0			c.C452A												161	157	159					13																	31727066		2203	4299	6502	SO:0001583	missense	10808	exon5			CTCTCAGCATCTG	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.452C>A	13.37:g.31727066G>T	ENSP00000318687:p.Ala151Asp		67	0	0		50	0.06	3	NM_006644	72	0	0	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516977	0.85495	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.01113	5.32;5.32;5.32;5.32	5.15	5.15	0.70609	.	0.211412	0.40469	N	0.001081	T	0.09247	0.0228	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.989;0.996;0.981;0.996	D;D;D;D;D	0.74348	0.969;0.953;0.983;0.949;0.98	T	0.00814	-1.1555	10	0.72032	D	0.01	-20.208	18.9909	0.92791	0.0:0.0:1.0:0.0	.	202;110;153;151;151	B4DZB4;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	D	151;151;110;153;202	ENSP00000318687:A151D;ENSP00000369768:A151D;ENSP00000369769:A110D;ENSP00000396090:A153D	ENSP00000318687:A151D	A	-	2	0	HSPH1	30625066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.558000	0.82253	2.553000	0.86117	0.591000	0.81541	GCT			0.363	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044384.1				T	31727066	G	T	31727066	3	4	98	1	0	0	0	0	1	0	0	0	7446	971	34	2	2180	2	HSPH1	13	31727066	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		31727066	83442812	48	7405											
SPPL2A	84888	mdanderson.org	37	chr15	51028300	51028300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattgagtattcatacctGtcttcatttcgaaacacagc	12	14	5	10	1	3	1	2	1	1	0	4	2	3	1	1	0	4	1	1	0	4	7			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr15:51028300G>T	ENST00000261854.5	-	8	1204	c.930C>A	c.(928-930)gaC>gaA	p.D310E		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	310					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATTCATACCTGTCTTCATTTC	0.358																																					p.D310E	Melanoma(50;790 1209 4069 22965 33125)												.	SPPL2A	26		0			c.C930A												124	107	113					15																	51028300		2196	4294	6490	SO:0001583	missense	84888	exon8			ATACCTGTCTTCA		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.930C>A	15.37:g.51028300G>T	ENSP00000261854:p.Asp310Glu		39	0	0		25	0.08	2	NM_032802	186	0	0	B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267058	0.59540	.	.	ENSG00000138600	ENST00000261854	T	0.12147	2.71	5.07	-0.727	0.11166	.	0.153629	0.56097	N	0.000030	T	0.22704	0.0548	M	0.78801	2.425	0.39878	D	0.973596	D	0.58620	0.983	P	0.55222	0.771	T	0.06463	-1.0825	10	0.33940	T	0.23	-14.0898	6.1574	0.20346	0.594:0.128:0.2781:0.0	.	310	Q8TCT8	PSL2_HUMAN	E	310	ENSP00000261854:D310E	ENSP00000261854:D310E	D	-	3	2	AC012100.1	48815592	0.992000	0.36948	0.999000	0.59377	0.804000	0.45430	0.307000	0.19296	0.007000	0.14760	-0.471000	0.05019	GAC			0.358	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254543.3		NM_032802		T	51028300	G	T	51028300	3	4	98	1	0	0	0	0	1	0	0	0	15111	1368	48	3	664	3	SPPL2A	15	51028300	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		51028300	51503092	49	7406											
ACAN	176	bcgsc.ca	37	chr15	89395085	89395085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacacccacatcaccctctgGtgtggaggagtggatcgtga	9	8	12	12	1	2	1	1	1	1	0	3	4	2	4	2	4	0	0	2	4	0	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr15:89395085G>T	ENST00000561243.1	+	10	2087	c.2087G>T	c.(2086-2088)gGt>gTt	p.G696V	ACAN_ENST00000559004.1_Missense_Mutation_p.G696V|ACAN_ENST00000439576.2_Missense_Mutation_p.G696V|ACAN_ENST00000352105.7_Missense_Mutation_p.G696V			P16112	PGCA_HUMAN	aggrecan	695	KS.				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)			TCACCCTCTGGTGTGGAGGAG	0.562																																					p.G696V													.	ACAN	220		0			c.G2087T												53	67	62					15																	89395085		2070	4188	6258	SO:0001583	missense	176	exon11			CCTCTGGTGTGGA	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.2087G>T	15.37:g.89395085G>T	ENSP00000453342:p.Gly696Val		203	0.0049261084	1		154	0.04	6	NM_001135	1	0	0	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	8.591	0.884666	0.17467	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.10005	2.92;2.92	5.07	-9.74	0.00509	.	0.975523	0.08301	N	0.966862	T	0.03651	0.0104	N	0.08118	0	0.09310	N	0.999997	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.39522	-0.9610	10	0.25106	T	0.35	0.1785	6.7234	0.23342	0.2873:0.0:0.4766:0.2361	.	696;696	E7ENV9;E7EX88	.;.	V	696	ENSP00000387356:G696V;ENSP00000341615:G696V	ENSP00000268134:G696V	G	+	2	0	ACAN	87196089	0.001000	0.12720	0.000000	0.03702	0.083000	0.17756	0.010000	0.13242	-2.370000	0.00602	-0.424000	0.05967	GGT			0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416267.2		NM_001135		T	89395085	G	T	89395085	3	4	98	1	0	0	0	0	1	0	0	0	117	1261	44	3	2125	3	ACAN	15	89395085	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	38366785	89395085	13136307	50	7407											
HAPLN3	145864	mdanderson.org	37	chr15	89422428	89422428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccgcagcctgctctGcacagacctgctggccctcg	6	6	9	20	2	1	1	0	0	1	1	2	1	1	1	6	1	4	4	6	1	0	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr15:89422428G>A	ENST00000359595.3	-	4	780	c.566C>T	c.(565-567)gCa>gTa	p.A189V	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A251V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	189	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, 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)	AGCCTGCTCTGCACAGACCTG	0.642											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A189V													.	HAPLN3	43		0			c.C566T												46	51	50					15																	89422428		2200	4299	6499	SO:0001583	missense	145864	exon4			TGCTCTGCACAGA	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.566C>T	15.37:g.89422428G>A	ENSP00000352606:p.Ala189Val		67	0	0	1267	47	0.06	3	NM_178232	83	0.01	1	A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753246	0.31046	.	.	ENSG00000140511	ENST00000359595	T	0.10288	2.89	4.36	3.22	0.36961	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.166719	0.51477	D	0.000086	T	0.07638	0.0192	N	0.26092	0.79	0.23820	N	0.996754	B;B	0.12013	0.005;0.005	B;B	0.18561	0.022;0.022	T	0.35400	-0.9790	10	0.23302	T	0.38	-13.6421	10.0321	0.42107	0.0:0.0:0.2043:0.7957	.	189;189	A8K7T8;Q96S86	.;HPLN3_HUMAN	V	189	ENSP00000352606:A189V	ENSP00000352606:A189V	A	-	2	0	HAPLN3	87223432	0.930000	0.31532	0.918000	0.36340	0.010000	0.07245	0.806000	0.27126	0.620000	0.30215	-0.274000	0.10170	GCA			0.642	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000309070.1		NM_178232		A	89422428	G	A	89422428	3	1	98	1	0	0	0	0	1	0	0	0	6971	1319	46	2	524	2	HAPLN3	15	89422428	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	27343	89422428	13108964	51	7408											
WFIKKN1	117166	mdanderson.org	37	chr16	683468	683468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagcaggcctgtgcccGcggccccggcgacgcctgcg	4	4	15	18	6	0	0	0	0	0	0	0	1	0	0	6	3	4	1	6	3	0	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr16:683468G>T	ENST00000319070.2	+	2	1380	c.1058G>T	c.(1057-1059)cGc>cTc	p.R353L		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	353					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GCCTGTGCCCGCGGCCCCGGC	0.761																																					p.R353L													.	WFIKKN1	30		0			c.G1058T												3	4	4					16																	683468		1693	3368	5061	SO:0001583	missense	117166	exon2			GTGCCCGCGGCCC	AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.1058G>T	16.37:g.683468G>T	ENSP00000324763:p.Arg353Leu		8	0	0		9	0.22	2	NM_053284	2	0	0	Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	ENST00000319070.2	37	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	g	5.223	0.226625	0.09916	.	.	ENSG00000127578	ENST00000319070	T	0.68903	-0.36	4.74	0.143	0.14820	Proteinase inhibitor I2, Kunitz metazoa (2);	0.454289	0.23700	N	0.045439	T	0.44138	0.1279	L	0.46741	1.465	0.09310	N	1	P	0.36010	0.532	B	0.23716	0.048	T	0.20371	-1.0277	10	0.24483	T	0.36	.	2.3428	0.04264	0.1713:0.3095:0.3866:0.1327	.	353	Q96NZ8	WFKN1_HUMAN	L	353	ENSP00000324763:R353L	ENSP00000324763:R353L	R	+	2	0	WFIKKN1	623469	0.002000	0.14202	0.000000	0.03702	0.049000	0.14656	1.320000	0.33666	0.096000	0.17463	-0.265000	0.10407	CGC			0.761	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206731.2		NM_053284		T	683468	G	T	683468	3	4	98	1	0	0	0	0	1	0	0	0	17382	1087	38	1	1064	1	WFIKKN1	16	683468	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		683468	89671285	52	7409											
PKD1	5310	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	2156409	2156409	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcactcacccgtgcattcGaagtgcaccttggtggtgag	7	10	12	12	2	1	1	1	1	0	0	2	2	1	1	2	2	3	3	2	2	1	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr16:2156409G>C	ENST00000262304.4	-	18	7687	c.7479C>G	c.(7477-7479)ttC>ttG	p.F2493L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.F2493L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2493	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				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						CCGTGCATTCGAAGTGCACCT	0.711																																					p.F2493L													.	.			0			c.C7479G												4	4	4					16																	2156409		1909	3921	5830	SO:0001583	missense	5310	exon18			GCATTCGAAGTGC	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.7479C>G	16.37:g.2156409G>C	ENSP00000262304:p.Phe2493Leu		27	0	0		32	0.19	6	NM_000296	10	0.4	4	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.014600	0.54468	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.69435	-0.4;-0.4	4.81	0.28	0.15682	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	L	0.54323	1.7	0.42341	D	0.99233	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.71090	-0.4693	10	0.48119	T	0.1	.	10.3097	0.43702	0.4571:0.0:0.5429:0.0	.	2493;2493	P98161-3;P98161	.;PKD1_HUMAN	L	2493;2493;1844;772	ENSP00000262304:F2493L;ENSP00000399501:F2493L	ENSP00000262304:F2493L	F	-	3	2	PKD1	2096410	0.099000	0.21834	0.382000	0.26119	0.675000	0.39556	-0.482000	0.06544	0.138000	0.18790	-0.399000	0.06403	TTC			0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341688.1				C	2156409	G	C	2156409	3	2	98	1	0	0	0	0	1	0	0	0	11980	1049	37	5	5548	5	PKD1	16	2156409	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	1472941	2156409	88198344	53	7410											
C16orf88	400506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	19722702	19722702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggctgtacctggtctaTgtgcgcctcatccatgttgc	4	14	11	12	1	3	0	1	0	2	0	4	0	4	0	3	2	3	3	3	2	2	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr16:19722702T>C	ENST00000219837.7	-	3	1057	c.979A>G	c.(979-981)Ata>Gta	p.I327V	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_Missense_Mutation_p.I6V	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	327	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ACCTGGTCTATGTGCGCCTCA	0.572																																					p.I327V													C16orf88,NS,carcinoma,0,1	C16orf88	0	1	0			c.A979G												223	245	237					16																	19722702		2191	4294	6485	SO:0001583	missense	400506	exon3			GGTCTATGTGCGC	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.979A>G	16.37:g.19722702T>C	ENSP00000219837:p.Ile327Val		123	0	0		100	0.14	14	NM_001012991	83	0.22	18	O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.505260	0.26949	.	.	ENSG00000103550	ENST00000219837	T	0.27256	1.68	4.43	4.43	0.53597	.	0.937037	0.08987	N	0.864931	T	0.30916	0.0780	M	0.64997	1.995	0.48040	D	0.999577	P	0.38335	0.627	B	0.39258	0.295	T	0.05550	-1.0878	9	.	.	.	-18.5312	11.4487	0.50138	0.0:0.0:0.0:1.0	.	327	Q1ED39	CP088_HUMAN	V	327	ENSP00000219837:I327V	.	I	-	1	0	C16orf88	19630203	1.000000	0.71417	0.997000	0.53966	0.567000	0.35839	4.603000	0.61105	1.975000	0.57531	0.379000	0.24179	ATA			0.572	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435993.2		NM_001012991		C	19722702	T	C	19722702	3	2	98	1	0	0	0	0	1	0	0	0	1843	1464	51	4	409	4	C16orf88	16	19722702	Missense_Mutation	SNP	T	TCGA-VF-A8AB-01A-31D-A435-10	17566293	19722702	70632051	54	7411											
ACSM2A	123876	broad.mit.edu	37	chr16	20492208	20492208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accctgctgtggttgagacgGctgtgatcagcagcccagac	8	8	13	12	1	1	3	1	2	0	2	1	4	1	3	2	2	3	4	2	2	0	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr16:20492208G>A	ENST00000573854.1	+	12	1588	c.1474G>A	c.(1474-1476)Gct>Act	p.A492T	ACSM2A_ENST00000219054.6_Missense_Mutation_p.A492T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A492T|ACSM2A_ENST00000536134.1_Missense_Mutation_p.A264T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A492T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A413T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	492					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						GGTTGAGACGGCTGTGATCAG	0.557																																					p.A492T													.	ACSM2A	120		0			c.G1474A												106	95	99					16																	20492208		2202	4299	6501	SO:0001583	missense	123876	exon13			GAGACGGCTGTGA	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.1474G>A	16.37:g.20492208G>A	ENSP00000459451:p.Ala492Thr		188	0	0		186	0.04	7	NM_001010845	0		0	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295226	0.60086	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	3.26	3.26	0.37387	AMP-dependent synthetase/ligase (1);	0.466770	0.17729	N	0.163960	T	0.82075	0.4958	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.954	D	0.86329	0.1697	10	0.87932	D	0	-2.1101	14.6156	0.68547	0.0:0.0:1.0:0.0	.	413;492	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	T	413;492;264;492	ENSP00000392169:A413T;ENSP00000219054:A492T;ENSP00000445082:A264T;ENSP00000379411:A492T	ENSP00000219054:A492T	A	+	1	0	ACSM2A	20399709	1.000000	0.71417	0.156000	0.22583	0.329000	0.28539	5.949000	0.70257	1.560000	0.49568	0.289000	0.19496	GCT			0.557	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436764.1		NM_001010845		A	20492208	G	A	20492208	3	1	98	1	0	0	0	0	1	0	0	0	183	1203	42	2	1516	2	ACSM2A	16	20492208	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	769506	20492208	69862545	55	7412											
PHKB	5257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	47630436	47630436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactttatatcatcgcaaaaCtcctgggtaagtggagaaga	14	10	9	8	1	1	2	1	0	0	2	3	3	2	2	1	2	1	2	1	2	6	4			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr16:47630436C>G	ENST00000323584.5	+	13	1381	c.1357C>G	c.(1357-1359)Ctc>Gtc	p.L453V	PHKB_ENST00000455779.1_Missense_Mutation_p.L446V|PHKB_ENST00000566044.1_Missense_Mutation_p.L446V|PHKB_ENST00000299167.8_Missense_Mutation_p.L453V	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	453					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)|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)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CATCGCAAAACTCCTGGGTAA	0.373																																					p.L453V													.	.			0			c.C1357G												167	171	169					16																	47630436		2201	4299	6500	SO:0001583	missense	5257	exon13			GCAAAACTCCTGG		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1357C>G	16.37:g.47630436C>G	ENSP00000313504:p.Leu453Val		119	0	0		134	0.12	16	NM_000293	21	0.05	1	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656387	0.88056	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91843	-2.92;-2.92	5.73	5.73	0.89815	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96944	0.9002	M	0.92122	3.275	0.80722	D	1	D;P	0.54964	0.969;0.8	P;B	0.61940	0.896;0.423	D	0.97352	0.9964	10	0.87932	D	0	-12.7996	19.9002	0.96983	0.0:1.0:0.0:0.0	.	453;446	Q93100;Q93100-4	KPBB_HUMAN;.	V	446;446;453	ENSP00000414345:L446V;ENSP00000313504:L453V	ENSP00000299167:L446V	L	+	1	0	PHKB	46187937	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.873000	0.69644	2.709000	0.92574	0.655000	0.94253	CTC			0.373	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000430413.1				G	47630436	C	G	47630436	3	3	98	1	0	0	0	0	1	0	0	0	11862	565	20	5	1466	5	PHKB	16	47630436	Missense_Mutation	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	27138228	47630436	42724317	56	7413											
SLC12A3	6559	mdanderson.org	37	chr16	56919268	56919268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggaagaccacatcaaGaactaccggtgagcagagct	14	5	13	9	1	1	4	1	1	0	3	1	6	1	5	2	3	4	2	2	3	4	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr16:56919268G>T	ENST00000563236.1	+	15	1942	c.1917G>T	c.(1915-1917)aaG>aaT	p.K639N	SLC12A3_ENST00000566786.1_Missense_Mutation_p.K638N|SLC12A3_ENST00000438926.2_Missense_Mutation_p.K639N|SLC12A3_ENST00000262502.5_Missense_Mutation_p.K638N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	639					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)	ACCACATCAAGAACTACCGGT	0.607																																					p.K639N													.	SLC12A3	99		0			c.G1917T												57	50	52					16																	56919268		2167	4247	6414	SO:0001583	missense	6559	exon15			CATCAAGAACTAC		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.1917G>T	16.37:g.56919268G>T	ENSP00000456149:p.Lys639Asn		54	0	0		35	0.09	3	NM_001126108	0		0	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006964	0.74932	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.4	5.4	0.78164	Amino acid permease domain (1);	0.099926	0.64402	D	0.000002	D	0.86280	0.5895	H	0.97023	3.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	D	0.89066	0.3466	9	0.87932	D	0	.	9.5561	0.39339	0.1575:0.0:0.8425:0.0	.	638;639;639	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	638;639	.	ENSP00000262502:K639N	K	+	3	2	SLC12A3	55476769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.376000	0.52417	2.531000	0.85337	0.655000	0.94253	AAG			0.607	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000432337.1				T	56919268	G	T	56919268	3	4	98	1	0	0	0	0	1	0	0	0	14407	933	33	3	1975	3	SLC12A3	16	56919268	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	9288832	56919268	33435485	57	7414											
ANKRD11	29123	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	89345676	89345677	+	Missense_Mutation	DNP	TC	TC	AA																															tgtggtagggctcgatggcaTccagcttgatggcgtccacg																										TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	TC	TC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr16:89345676_89345677TC>AA	ENST00000301030.4	-	9	7733_7734	c.7273_7274GA>TT	c.(7273-7275)GAt>TTt	p.D2425F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D2425F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2425					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)		CTCGATGGCATCCAGCTTGATG	0.604																																					p.D2425F													.	.			0			c.G7273T																																									SO:0001583	missense	29123	exon9			ATGGCATCCAGCT	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.7273_7274delinsAA	16.37:g.89345676_89345677delinsAA	ENSP00000301030:p.Asp2425Phe		107	0	0		131	0.11	15	NM_001256183	133	0.05	7	Q6NTG1|Q6QMF8	Missense_Mutation	DNP	ENST00000301030.4	37	CCDS32513.1																																																																																					0.604	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		AA	89345677	TC	AA	89345676	3	1	98	1	0	0	0	0	1	0	0	0	639	1435	50	5	737	5	ANKRD11	16	89345676	Missense_Mutation	DNP	TC	TCGA-VF-A8AB-01A-31D-A435-10	32426408	89345676	1009077	58	7415											
KIAA0664	23277	broad.mit.edu	37	chr17	2598369	2598369	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaagtggctgatggcGgctgagaggccggagagctc	8	7	18	8	2	1	3	1	2	0	2	2	6	1	4	1	6	1	3	1	6	1	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr17:2598369G>T	ENST00000570628.2	-	16	2622	c.2517C>A	c.(2515-2517)gcC>gcA	p.A839A	CLUH_ENST00000538975.1_Silent_p.A839A|CLUH_ENST00000435359.1_Silent_p.A839A			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	839					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.A840A(2)									GGCTGATGGCGGCTGAGAGGC	0.642																																					p.A839A													KIAA0664_ENST00000322335,NS,carcinoma,0,2	.		2	2	Substitution - coding silent(2)	endometrium(2)	c.C2517A												30	39	36					17																	2598369		1984	4175	6159	SO:0001819	synonymous_variant	23277	exon16			GATGGCGGCTGAG	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2517C>A	17.37:g.2598369G>T			59	0.0169491525	1		52	0.06	3	NM_015229	115	0	0	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	CCDS45572.1																																																																																					0.642	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437807.2		NM_015229		T	2598369	G	T	2598369	2	4	98	1	0	0	0	0	0	0	0	1	8204	1103	39	1		1	KIAA0664	17	2598369	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		2598369	78596841	59	7416											
SPNS3	201305	broad.mit.edu;mdanderson.org	37	chr17	4351498	4351498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatcctgcttatcctgctgGttccagacccaccccgggga	6	10	10	15	1	0	2	0	1	0	1	3	3	3	3	6	3	2	3	6	3	1	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr17:4351498G>T	ENST00000355530.2	+	6	950	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	SPNS3_ENST00000333476.2_Missense_Mutation_p.V97F|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	224					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TATCCTGCTGGTTCCAGACCC	0.637																																					p.V224F													.	SPNS3	52		0			c.G670T												35	32	33					17																	4351498		2203	4300	6503	SO:0001583	missense	201305	exon6			CTGCTGGTTCCAG		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.670G>T	17.37:g.4351498G>T	ENSP00000347721:p.Val224Phe		64	0	0		52	0.08	4	NM_182538	0		0	Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049840	0.75846	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.55234	0.53;0.53	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.189945	0.45867	D	0.000323	T	0.74718	0.3753	M	0.83953	2.67	0.45867	D	0.998724	D;D	0.71674	0.998;0.992	D;D	0.72982	0.974;0.979	T	0.78635	-0.2127	10	0.87932	D	0	-24.3472	16.7529	0.85490	0.0:0.0:1.0:0.0	.	97;224	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	F	224;97	ENSP00000347721:V224F;ENSP00000333207:V97F	ENSP00000333207:V97F	V	+	1	0	SPNS3	4298247	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.543000	0.60684	2.636000	0.89361	0.563000	0.77884	GTT			0.637	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438793.1		NM_182538		T	4351498	G	T	4351498	3	4	98	1	0	0	0	0	1	0	0	0	15099	1261	44	3	692	3	SPNS3	17	4351498	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	1753129	4351498	76843712	60	7417											
ACAP1	9744	mdanderson.org	37	chr17	7252473	7252473	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgccacaccgctgatccAggccacagctgctgtaagag	11	7	10	13	1	0	2	0	1	0	1	1	2	1	2	4	1	3	4	4	1	2	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr17:7252473A>T	ENST00000158762.3	+	18	2044	c.1838A>T	c.(1837-1839)cAg>cTg	p.Q613L	ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	613	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						CCGCTGATCCAGGCCACAGCT	0.602																																					p.Q613L													.	ACAP1	66		0			c.A1838T												92	78	83					17																	7252473		2203	4300	6503	SO:0001583	missense	9744	exon18			TGATCCAGGCCAC	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.1838A>T	17.37:g.7252473A>T	ENSP00000158762:p.Gln613Leu		54	0	0		56	0.05	3	NM_014716	126	0	0	Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880979	0.51801	.	.	ENSG00000072818	ENST00000158762	T	0.61158	0.13	5.41	4.1	0.47936	Ankyrin repeat-containing domain (4);	0.056229	0.64402	D	0.000001	T	0.31358	0.0794	N	0.16016	0.355	0.80722	D	1	B	0.25048	0.117	B	0.24701	0.055	T	0.14727	-1.0462	10	0.05525	T	0.97	.	6.0008	0.19519	0.7484:0.0:0.2516:0.0	.	613	Q15027	ACAP1_HUMAN	L	613	ENSP00000158762:Q613L	ENSP00000158762:Q613L	Q	+	2	0	ACAP1	7193197	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.122000	0.64697	0.868000	0.35678	0.459000	0.35465	CAG			0.602	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000220049.4		NM_014716		T	7252473	A	T	7252473	3	4	98	1	0	0	0	0	1	0	0	0	118	188	7	5	1908	5	ACAP1	17	7252473	Missense_Mutation	SNP	A	TCGA-VF-A8AB-01A-31D-A435-10	2900975	7252473	73942737	61	7418											
FGF11	2256	mdanderson.org	37	chr17	7345131	7345131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgggcctccgtgtggTcaccatccagagcgccaagc	6	7	12	16	2	1	1	1	0	0	1	3	1	3	1	6	2	2	0	6	2	1	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr17:7345131T>C	ENST00000293829.4	+	3	935	c.341T>C	c.(340-342)gTc>gCc	p.V114A	RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575082.1_5'UTR|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'UTR|FGF11_ENST00000572907.1_5'UTR|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575398.1_5'UTR	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	114					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				CTCCGTGTGGTCACCATCCAG	0.587																																					p.V114A													.	FGF11	14		0			c.T341C												101	82	88					17																	7345131		2203	4300	6503	SO:0001583	missense	2256	exon3			GTGTGGTCACCAT		CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 3"	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.341T>C	17.37:g.7345131T>C	ENSP00000293829:p.Val114Ala		66	0	0		61	0.05	3	NM_004112	13	0	0	Q2YDX8	Missense_Mutation	SNP	ENST00000293829.4	37	CCDS11105.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079215	0.94050	.	.	ENSG00000161958	ENST00000293829	T	0.74632	-0.86	5.13	5.13	0.70059	.	0.119854	0.56097	D	0.000033	D	0.88220	0.6378	M	0.91768	3.24	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.83275	0.992;0.996	D	0.90347	0.4363	10	0.66056	D	0.02	.	12.9278	0.58270	0.0:0.0:0.0:1.0	.	55;114	B7Z1C3;Q92914	.;FGF11_HUMAN	A	114	ENSP00000293829:V114A	ENSP00000293829:V114A	V	+	2	0	FGF11	7285855	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.190000	0.77755	2.161000	0.67846	0.454000	0.30748	GTC			0.587	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226939.3		NM_004112		C	7345131	T	C	7345131	3	2	98	1	0	0	0	0	1	0	0	0	5853	1667	58	4	351	4	FGF11	17	7345131	Missense_Mutation	SNP	T	TCGA-VF-A8AB-01A-31D-A435-10	92658	7345131	73850079	62	7419											
MYOCD	93649	mdanderson.org	37	chr17	12649289	12649289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcttcaacgccactgaGcaatacccccttgtctcctg	7	12	5	17	1	4	1	1	1	3	0	5	1	4	1	4	0	3	1	4	0	3	4			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr17:12649289G>T	ENST00000343344.4	+	9	1025	c.1025G>T	c.(1024-1026)aGc>aTc	p.S342I	MYOCD_ENST00000425538.1_Missense_Mutation_p.S342I|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.S246I			Q8IZQ8	MYCD_HUMAN	myocardin	342					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)		ACGCCACTGAGCAATACCCCC	0.423																																					p.S342I													MYOCD_ENST00000425538,NS,carcinoma,0,2	MYOCD	291	2	0			c.G1025T												166	159	161					17																	12649289		2203	4300	6503	SO:0001583	missense	93649	exon9			CACTGAGCAATAC	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.1025G>T	17.37:g.12649289G>T	ENSP00000341835:p.Ser342Ile		140	0	0		128	0.04	5	NM_153604	1	0	0	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174802	0.57692	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.51574	0.7;0.7	5.71	3.68	0.42216	.	0.188168	0.64402	D	0.000011	T	0.39708	0.1088	N	0.24115	0.695	0.53005	D	0.999962	P;D;P;P	0.54964	0.893;0.969;0.946;0.846	B;P;P;P	0.52343	0.219;0.668;0.696;0.499	T	0.22103	-1.0226	10	0.45353	T	0.12	-11.2386	5.9529	0.19257	0.228:0.1391:0.6329:0.0	.	61;246;342;342	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	I	61;342;342;246;47	ENSP00000341835:S342I;ENSP00000400148:S47I	ENSP00000341835:S342I	S	+	2	0	MYOCD	12590014	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	1.065000	0.30592	1.391000	0.46566	0.561000	0.74099	AGC			0.423	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129950.1		NM_153604		T	12649289	G	T	12649289	3	4	98	1	0	0	0	0	1	0	0	0	10103	971	34	2	1059	2	MYOCD	17	12649289	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	5304158	12649289	68545921	63	7420											
KRTAP4-11	653240	hgsc.bcm.edu	37	chr17	39274360	39274360	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagcagctggagatgcAgcatctggggcggcagcagg	9	4	18	10	2	1	1	0	0	1	1	1	3	1	1	0	5	5	6	0	5	0	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr17:39274360A>T	ENST00000391413.2	-	1	246	c.208T>A	c.(208-210)Tgc>Agc	p.C70S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	70	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGAGATGCAGCATCTGGGG	0.667																																					p.C70S													KRTAP4-11,NS,carcinoma,0,1	KRTAP4-11	0	1	0			c.T208A												7	12	11					17																	39274360		677	1580	2257	SO:0001583	missense	653240	exon1			AGATGCAGCATCT	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.208T>A	17.37:g.39274360A>T	ENSP00000375232:p.Cys70Ser		34	0.0588235294	2		34	0.12	4	NM_033059	0		0	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.219303	0.39201	.	.	ENSG00000212721	ENST00000391413	T	0.02280	4.36	3.77	1.34	0.21922	.	0.000000	0.36972	U	0.002304	T	0.04770	0.0129	M	0.90252	3.1	0.23636	N	0.997233	B	0.17268	0.021	B	0.17722	0.019	T	0.23048	-1.0199	10	0.54805	T	0.06	.	4.9719	0.14119	0.7038:0.1861:0.1101:0.0	.	70	Q9BYQ6	KR411_HUMAN	S	70	ENSP00000375232:C70S	ENSP00000375232:C70S	C	-	1	0	KRTAP4-11	36527886	0.844000	0.29557	0.494000	0.27515	0.120000	0.20174	1.052000	0.30429	0.644000	0.30656	0.496000	0.49642	TGC			0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257690.1				T	39274360	A	T	39274360	3	4	98	1	0	0	0	0	1	0	0	0	8564	188	7	5	383	5	KRTAP4-11	17	39274360	Missense_Mutation	SNP	A	TCGA-VF-A8AB-01A-31D-A435-10	26625071	39274360	41920850	64	7421											
KRTAP4-12	83755	mdanderson.org	37	chr17	39280273	39280273	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctggggcggcagcaGgtggtcctgcagcaggtggt	6	6	19	10	1	0	0	0	0	0	0	1	0	1	0	1	7	5	6	1	7	0	0			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr17:39280273G>T	ENST00000394014.1	-	1	146	c.102C>A	c.(100-102)acC>acA	p.T34T		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	34	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					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)			GGCGGCAGCAGGTGGTCCTGC	0.662																																					p.T34T													.	KRTAP4-12	32		0			c.C102A												36	50	45					17																	39280273		2179	4267	6446	SO:0001819	synonymous_variant	83755	exon1			GCAGCAGGTGGTC	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.102C>A	17.37:g.39280273G>T			45	0.0222222222	1		56	0.11	6	NM_031854	0		0	A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	CCDS32649.1																																																																																					0.662	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257777.1				T	39280273	G	T	39280273	2	4	98	1	0	0	0	0	0	0	0	1	8565	987	35	3		3	KRTAP4-12	17	39280273	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	5913	39280273	41914937	65	7422											
CLTC	1213	bcgsc.ca	37	chr17	57746271	57746271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagagaaagcaactgctaCgatcctgagcgagtcaagaa	15	7	11	8	2	1	3	1	1	0	2	2	6	2	3	1	0	5	3	1	0	6	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr17:57746271C>T	ENST00000269122.3	+	14	2536	c.2262C>T	c.(2260-2262)taC>taT	p.Y754Y	CLTC_ENST00000393043.1_Silent_p.Y754Y|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	754	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GCAACTGCTACGATCCTGAGC	0.408			T	"ALK, TFE3"	"ALCL, renal "																																p.Y754Y				Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	.	CLTC	124		0			c.C2262T												110	112	111					17																	57746271		2203	4300	6503	SO:0001819	synonymous_variant	1213	exon14			CTGCTACGATCCT	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2262C>T	17.37:g.57746271C>T			31	0	0		46	0.09	4	NM_004859	135	0	0	D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	CCDS32696.1																																																																																					0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258859.1		NM_004859		T	57746271	C	T	57746271	2	4	98	1	0	0	0	0	0	0	0	1	3568	547	19	1		1	CLTC	17	57746271	Silent	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	18465998	57746271	23448939	66	7423											
DSG1	1828	broad.mit.edu	37	chr18	28934743	28934743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccgaccagcatcaaacGtggtagtgacagagagagtg	15	6	12	8	2	1	3	1	1	0	2	1	5	1	3	2	1	3	2	2	1	3	2	rs201083341		TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr18:28934743G>T	ENST00000257192.4	+	15	2796	c.2584G>T	c.(2584-2586)Gtg>Ttg	p.V862L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.V221L	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	862					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCATCAAACGTGGTAGTGAC	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		22174	0		0	False		,,,				2504	0				p.V862L													.	DSG1	176		0			c.G2584T												180	157	165					18																	28934743		2203	4300	6503	SO:0001583	missense	1828	exon15			TCAAACGTGGTAG	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2584G>T	18.37:g.28934743G>T	ENSP00000257192:p.Val862Leu		143	0	0		121	0.03	4	NM_001942	0		0	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.24	2.178295	0.38511	.	.	ENSG00000134760	ENST00000257192	T	0.81415	-1.49	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000012	D	0.86012	0.5831	M	0.65498	2.005	0.46298	D	0.998973	D	0.56521	0.976	P	0.52856	0.711	D	0.85588	0.1244	10	0.48119	T	0.1	.	19.9765	0.97312	0.0:0.0:1.0:0.0	.	862	Q02413	DSG1_HUMAN	L	862	ENSP00000257192:V862L	ENSP00000257192:V862L	V	+	1	0	DSG1	27188741	1.000000	0.71417	0.999000	0.59377	0.669000	0.39330	6.778000	0.75043	2.733000	0.93635	0.467000	0.42956	GTG			0.512	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254947.1		NM_001942		T	28934743	G	T	28934743	3	4	98	1	0	0	0	0	1	0	0	0	4781	1145	40	1	2642	1	DSG1	18	28934743	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		28934743	49142505	67	7424											
GALR1	2587	mdanderson.org	37	chr18	74962795	74962795	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggccaccgtgtacgcGctgcccacctgggtgctggg	4	8	14	15	3	0	0	0	0	0	0	1	0	1	0	5	3	3	3	5	3	1	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr18:74962795G>T	ENST00000299727.3	+	1	291	c.291G>T	c.(289-291)gcG>gcT	p.A97A		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	97					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCGTGTACGCGCTGCCCACCT	0.617																																					p.A97A													.	GALR1	53		0			c.G291T												128	114	119					18																	74962795		2203	4300	6503	SO:0001819	synonymous_variant	2587	exon1			GTACGCGCTGCCC	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.291G>T	18.37:g.74962795G>T			46	0	0		40	0.08	3	NM_001480	0		0	Q4VBL7	Silent	SNP	ENST00000299727.3	37	CCDS12012.1																																																																																					0.617	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256362.1				T	74962795	G	T	74962795	2	4	98	1	0	0	0	0	0	0	0	1	6241	1074	38	1		1	GALR1	18	74962795	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	46028052	74962795	3114453	68	7425											
CHAF1A	10036	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	4409387	4409387	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcagggaggagaggCgactcccaggaatgttcgcc	9	5	18	9	2	0	1	0	0	0	1	2	6	1	4	2	6	1	2	2	6	1	1	rs188842259		TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr19:4409387C>T	ENST00000301280.5	+	3	692	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	197	Binds to CBX1 chromo shadow domain.				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)		GGAGGAGAGGCGACTCCCAGG	0.582								Chromatin Structure					c|||	1	0.000199681	0	0	5008	,	,		18160	0.001		0	False		,,,				2504	0				p.G197G													.	.			0			c.C591T												74	75	74					19																	4409387		2203	4300	6503	SO:0001819	synonymous_variant	10036	exon3			GAGAGGCGACTCC	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.591C>T	19.37:g.4409387C>T			82	0	0		120	0.08	9	NM_005483	60	0.18	11	Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	CCDS32875.1																																																																																			0		0.582	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458310.2		NM_005483		T	4409387	C	T	4409387	2	4	98	1	0	0	0	0	0	0	0	1	3313	755	27	1		1	CHAF1A	19	4409387	Silent	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10		4409387	54719596	69	7426											
MUC16	94025	mdanderson.org	37	chr19	9059459	9059459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctgggatggatgttctGctagaagagatggcttctgt	7	12	16	6	0	2	2	0	0	2	2	2	5	2	4	1	4	1	3	1	4	2	3	rs201658687		TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr19:9059459G>T	ENST00000397910.4	-	3	28190	c.27987C>A	c.(27985-27987)agC>agA	p.S9329R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9331	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						TGGATGTTCTGCTAGAAGAGA	0.493																																					p.S9329R													.	MUC16	4315		0			c.C27987A												159	156	157					19																	9059459		1997	4169	6166	SO:0001583	missense	94025	exon3			TGTTCTGCTAGAA	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.27987C>A	19.37:g.9059459G>T	ENSP00000381008:p.Ser9329Arg		79	0	0		99	0.05	5	NM_024690	0		0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.626	0.116289	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.43	1.3	0.21679	.	.	.	.	.	T	0.03783	0.0107	N	0.14661	0.345	.	.	.	D	0.64830	0.994	P	0.56960	0.81	T	0.42275	-0.9461	8	0.87932	D	0	.	5.5897	0.17293	0.1649:0.0:0.8351:0.0	.	9329	B5ME49	.	R	9329	ENSP00000381008:S9329R	ENSP00000381008:S9329R	S	-	3	2	MUC16	8920459	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.128000	0.10531	0.547000	0.28938	0.461000	0.40582	AGC			0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690		T	9059459	G	T	9059459	3	4	98	1	0	0	0	0	1	0	0	0	9989	1310	46	2	15864	2	MUC16	19	9059459	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	4650072	9059459	50069524	70	7427											
ZNF700	90592	hgsc.bcm.edu	37	chr19	12060269	12060269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaaaccctatgaatgtaAggaatgtgggaaagccttca	16	8	11	6	0	1	2	1	1	0	1	1	5	1	4	2	2	2	1	2	2	6	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr19:12060269A>G	ENST00000254321.5	+	4	1573	c.1430A>G	c.(1429-1431)aAg>aGg	p.K477R	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.K459R|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	477					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						TATGAATGTAAGGAATGTGGG	0.413																																					p.K480R													.	.			0			c.A1439G												74	75	75					19																	12060269		2203	4300	6503	SO:0001583	missense	90592	exon4			AATGTAAGGAATG	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.1430A>G	19.37:g.12060269A>G	ENSP00000254321:p.Lys477Arg		66	0	0		83	0.05	4	NM_001271848	25	0	0	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	a	12.34	1.909621	0.33721	.	.	ENSG00000196757	ENST00000254321	T	0.03831	3.79	0.606	0.606	0.17559	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08802	0.0218	N	0.26042	0.785	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.33214	-0.9877	9	0.46703	T	0.11	.	4.5084	0.11899	0.6646:0.3354:0.0:0.0	.	477	Q9H0M5	ZN700_HUMAN	R	477	ENSP00000254321:K477R	ENSP00000254321:K477R	K	+	2	0	ZNF700	11921269	0.000000	0.05858	0.188000	0.23233	0.341000	0.28922	-2.027000	0.01433	0.485000	0.27652	0.164000	0.16699	AAG			0.413	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344126.2		NM_144566		G	12060269	A	G	12060269	3	3	98	1	0	0	0	0	1	0	0	0	18127	72	3	4	1444	4	ZNF700	19	12060269	Missense_Mutation	SNP	A	TCGA-VF-A8AB-01A-31D-A435-10	3000810	12060269	47068714	71	7428											
ATP13A1	57130	mdanderson.org	37	chr19	19770791	19770791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcgctttgctggggtcGtactcctgacagagacaaag	10	9	13	9	2	0	2	0	1	0	1	3	3	1	2	1	3	2	3	1	3	3	2	rs111834843	byFrequency	TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr19:19770791G>A	ENST00000357324.6	-	2	428	c.402C>T	c.(400-402)taC>taT	p.Y134Y	ATP13A1_ENST00000291503.5_Silent_p.Y16Y	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	134						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.Y134Y(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGGGGTCGTACTCCTGAC	0.572													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		18918	0		0	False		,,,				2504	0				p.Y134Y	Esophageal Squamous(142;920 1789 9047 14684 24777)												ATP13A1,colon,carcinoma,0,1	ATP13A1	82	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C402T							G		23,4377		0,23,2177	39	32	34		402	-5.6	0.8	19	dbSNP_132	34	0,8592		0,0,4296	no	coding-synonymous	ATP13A1	NM_020410.2		0,23,6473	AA,AG,GG		0.0,0.5227,0.177		134/1205	19770791	23,12969	2200	4296	6496	SO:0001819	synonymous_variant	57130	exon2			GGGGTCGTACTCC	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.402C>T	19.37:g.19770791G>A			40	0	0		55	0.05	3	NM_020410	80	0	0	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	CCDS32970.2	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	9.030	0.987064	0.18889	0.005227	0.0	ENSG00000105726	ENST00000455627	.	.	.	4.22	-5.59	0.02505	.	.	.	.	.	T	0.41143	0.1146	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.47394	-0.9121	4	.	.	.	-6.3171	7.6732	0.28470	0.5249:0.1125:0.3626:0.0	.	.	.	.	M	53	.	.	T	-	2	0	ATP13A1	19631791	0.035000	0.19736	0.840000	0.33206	0.994000	0.84299	-0.573000	0.05874	-1.322000	0.02278	-0.238000	0.12139	ACG	0.002		0.572	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329005.1		NM_020410		A	19770791	G	A	19770791	2	1	98	1	0	0	0	0	0	0	0	1	1123	1140	40	1		1	ATP13A1	19	19770791	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	7710522	19770791	39358192	72	7429											
MEGF8	1954	mdanderson.org	37	chr19	42861670	42861670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatggcttcaaccagcagCtgctggagtaccagctggca	12	7	11	11	0	1	0	1	0	0	0	1	1	1	1	2	3	6	7	2	3	4	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr19:42861670C>A	ENST00000251268.6	+	28	4945	c.4945C>A	c.(4945-4947)Ctg>Atg	p.L1649M	MEGF8_ENST00000334370.4_Missense_Mutation_p.L1582M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1649					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)				CAACCAGCAGCTGCTGGAGTA	0.677																																					p.L1649M													.	MEGF8	358		0			c.C4945A												34	34	34					19																	42861670		2203	4299	6502	SO:0001583	missense	1954	exon28			CAGCAGCTGCTGG	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.4945C>A	19.37:g.42861670C>A	ENSP00000251268:p.Leu1649Met		56	0	0		47	0.06	3	NM_001271938	7	0	0	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	C	15.83	2.950361	0.53186	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.69435	-0.4;-0.4	5.26	3.12	0.35913	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.53938	D	0.000052	T	0.71787	0.3381	L	0.52126	1.63	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.927;0.994	T	0.69888	-0.5023	10	0.72032	D	0.01	-10.5048	4.4735	0.11724	0.0:0.5885:0.184:0.2276	.	1649;1582	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	M	1582;1649	ENSP00000334219:L1582M;ENSP00000251268:L1649M	ENSP00000251268:L1649M	L	+	1	2	MEGF8	47553510	1.000000	0.71417	0.985000	0.45067	0.583000	0.36354	1.117000	0.31234	0.520000	0.28426	0.655000	0.94253	CTG			0.677	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000463854.1		NM_001410		A	42861670	C	A	42861670	3	1	98	1	0	0	0	0	1	0	0	0	9479	796	28	2	4850	2	MEGF8	19	42861670	Missense_Mutation	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	23090879	42861670	16267313	73	7430											
ATF5	22809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50434258	50434258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagccctggagggcgggCttccagtggggggagagccc	5	4	22	10	1	0	1	0	0	0	1	1	4	1	3	3	8	2	1	3	8	0	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr19:50434258C>T	ENST00000423777.2	+	2	528	c.151C>T	c.(151-153)Ctt>Ttt	p.L51F	IL4I1_ENST00000595948.1_5'Flank|ATF5_ENST00000595125.1_Missense_Mutation_p.L51F|NUP62_ENST00000422090.2_5'Flank|MIR4751_ENST00000578027.1_RNA|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597723.1_5'Flank|NUP62_ENST00000597029.1_5'Flank|ATF5_ENST00000600336.1_Missense_Mutation_p.L51F|CTC-326K19.6_ENST00000451973.1_Intron|NUP62_ENST00000596217.1_5'Flank|NUP62_ENST00000413454.1_5'Flank|NUP62_ENST00000352066.3_5'Flank|IL4I1_ENST00000341114.3_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	51					multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	GGAGGGCGGGCTTCCAGTGGG	0.662																																					p.L51F	GBM(48;768 989 9196 9511 26329)												.	.			0			c.C151T												5	6	6					19																	50434258		2124	4196	6320	SO:0001583	missense	22809	exon3			GGCGGGCTTCCAG	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.151C>T	19.37:g.50434258C>T	ENSP00000396954:p.Leu51Phe		86	0	0		66	0.21	14	NM_012068	220	0.04	9	B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588552	0.46110	.	.	ENSG00000169136	ENST00000423777	T	0.50277	0.75	4.13	4.13	0.48395	.	0.455403	0.17378	N	0.176410	T	0.48714	0.1515	L	0.36672	1.1	0.36764	D	0.883437	D	0.69078	0.997	P	0.56127	0.792	T	0.52457	-0.8573	10	0.40728	T	0.16	-8.3229	9.4863	0.38931	0.2112:0.7888:0.0:0.0	.	51	Q9Y2D1	ATF5_HUMAN	F	51	ENSP00000396954:L51F	ENSP00000396954:L51F	L	+	1	0	ATF5	55126070	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.344000	0.33941	2.308000	0.77769	0.462000	0.41574	CTT			0.662	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464915.2				T	50434258	C	T	50434258	3	4	98	1	0	0	0	0	1	0	0	0	1083	797	28	2	153	2	ATF5	19	50434258	Missense_Mutation	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	7572588	50434258	8694725	74	7431											
TRIM28	10155	mdanderson.org	37	chr19	59059871	59059871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagattgtggcagagcGtcctggcactaactcaacag	12	7	12	10	1	1	2	1	0	0	2	2	2	2	2	1	3	3	3	1	3	3	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr19:59059871G>A	ENST00000253024.5	+	9	1524	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	TRIM28_ENST00000341753.6_Missense_Mutation_p.R330H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	412					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)		GTGGCAGAGCGTCCTGGCACT	0.582																																					p.R412H													TRIM28,NS,carcinoma,+1,1	TRIM28	46	1	0			c.G1235A												92	94	93					19																	59059871		2203	4300	6503	SO:0001583	missense	10155	exon9			CAGAGCGTCCTGG		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.1235G>A	19.37:g.59059871G>A	ENSP00000253024:p.Arg412His		60	0	0		57	0.05	3	NM_005762	1373	0	0	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349391	0.61183	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.68181	-0.1;-0.31	5.12	5.12	0.69794	.	0.098434	0.47852	D	0.000204	T	0.65354	0.2683	N	0.08118	0	0.38218	D	0.940668	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.80764	0.994;0.98;0.987	T	0.71052	-0.4704	10	0.46703	T	0.11	-26.0996	14.2646	0.66107	0.0:0.0:1.0:0.0	.	330;412;412	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	H	412;330	ENSP00000253024:R412H;ENSP00000342232:R330H	ENSP00000253024:R412H	R	+	2	0	TRIM28	63751683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.803000	0.47924	2.837000	0.97791	0.655000	0.94253	CGT			0.582	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467074.1		NM_005762		A	59059871	G	A	59059871	3	1	98	1	0	0	0	0	1	0	0	0	16526	1145	40	1	1269	1	TRIM28	19	59059871	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	8625613	59059871	69112	75	7432											
DIDO1	11083	mdanderson.org	37	chr20	61525294	61525294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggacaggtcttccagcGgggagggctcgggatggcca	7	5	20	9	2	1	0	0	0	1	0	3	3	2	3	2	8	1	1	2	8	0	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr20:61525294G>T	ENST00000266070.4	-	12	3150	c.2825C>A	c.(2824-2826)cCg>cAg	p.P942Q	DIDO1_ENST00000395340.1_Missense_Mutation_p.P942Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P942Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.P942Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	942					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)					GTCTTCCAGCGGGGAGGGCTC	0.632																																					p.P942Q	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												.	DIDO1	321		0			c.C2825A												54	52	53					20																	61525294		2203	4300	6503	SO:0001583	missense	11083	exon12			TCCAGCGGGGAGG	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.2825C>A	20.37:g.61525294G>T	ENSP00000266070:p.Pro942Gln		45	0	0		65	0.05	3	NM_033081	12	0	0	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786909	0.31593	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.10860	3.2;3.2;2.83;2.83	6.17	-1.72	0.08107	.	1.934510	0.02924	N	0.138347	T	0.08492	0.0211	N	0.22421	0.69	0.09310	N	0.999999	P;P	0.50710	0.933;0.938	B;B	0.43990	0.438;0.253	T	0.31779	-0.9931	10	0.22706	T	0.39	-0.6589	6.4516	0.21906	0.5322:0.1319:0.336:0.0	.	942;942	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Q	942	ENSP00000266070:P942Q;ENSP00000378752:P942Q;ENSP00000378749:P942Q;ENSP00000378744:P942Q	ENSP00000266070:P942Q	P	-	2	0	DIDO1	60995739	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.481000	0.22260	-0.052000	0.13311	-0.302000	0.09304	CCG			0.632	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080091.2		NM_080796		T	61525294	G	T	61525294	3	4	98	1	0	0	0	0	1	0	0	0	4527	1116	39	1	3946	1	DIDO1	20	61525294	Missense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		61525294	1500226	76	7433											
MICAL3	57553	broad.mit.edu	37	chr22	18273827	18273832	+	In_Frame_Del	DEL	GCTCCC	GCTCCC	-																															ctgccggtcttccagctccaGctcccgggcactgaggaggc																										TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	GCTCCC	GCTCCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr22:18273827_18273832delGCTCCC	ENST00000441493.2	-	31	6108_6113	c.5756_5761delGGGAGC	c.(5755-5763)cgggagctg>ctg	p.RE1919del	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1919					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)	p.R297Q(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCAGCTCCAGCTCCCGGGCACTGAG	0.65																																					p.1919_1921del													.	MICAL3	53		1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.5756_5761del																																									SO:0001651	inframe_deletion	57553	exon31			GCTCCAGCTCCCG	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.5756_5761delGGGAGC	22.37:g.18273827_18273832delGCTCCC	ENSP00000416015:p.Arg1919_Glu1920del		46	0	0		59	0.15	9	NM_015241	21	0	0	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	In_Frame_Del	DEL	ENST00000441493.2	37	CCDS46659.1																																																																																					0.65	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447351.1				-	18273832	GCTCCC	-	18273827	7	5	98	1	0	1	0	1	0	0	0	0	9587	962	34	0	255	0	MICAL3	22	18273827	In_Frame_Del	DEL	GCTCCC	TCGA-VF-A8AB-01A-31D-A435-10		18273827	33030739	77	7434											
ZNF74	7625	mdanderson.org	37	chr22	20760070	20760070	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggggagggcgagttcgtGtgcggcgagtgcgggaaggc	5	5	23	8	6	0	0	0	0	0	0	1	4	0	2	1	6	2	1	1	6	1	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr22:20760070G>T	ENST00000400451.2	+	5	1261	c.747G>T	c.(745-747)gtG>gtT	p.V249V	ZNF74_ENST00000356671.5_Silent_p.V249V|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Silent_p.V217V|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	249					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)			GCGAGTTCGTGTGCGGCGAGT	0.687																																					p.V249V													.	ZNF74	54		0			c.G747T												14	18	17					22																	20760070		2188	4289	6477	SO:0001819	synonymous_variant	7625	exon6			GTTCGTGTGCGGC	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.747G>T	22.37:g.20760070G>T			37	0	0		45	0.07	3	NM_001256524	20	0	0	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Silent	SNP	ENST00000400451.2	37	CCDS42982.1																																																																																					0.687	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319648.2		NM_003426		T	20760070	G	T	20760070	2	4	98	1	0	0	0	0	0	0	0	1	18150	1364	48	3		3	ZNF74	22	20760070	Silent	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	2486243	20760070	30544496	78	7435											
ZNF74	7625	mdanderson.org	37	chr22	20760418	20760418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctaccggtgcggcgagtgCggcaaggccttcaaccagcg	7	5	14	15	5	1	0	1	0	0	0	1	1	1	0	4	4	5	1	4	4	3	2			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr22:20760418C>T	ENST00000400451.2	+	5	1609	c.1095C>T	c.(1093-1095)tgC>tgT	p.C365C	ZNF74_ENST00000356671.5_Silent_p.C365C|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Silent_p.C333C|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	365					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)			GCGGCGAGTGCGGCAAGGCCT	0.662																																					p.C365C													.	ZNF74	54		0			c.C1095T												42	51	48					22																	20760418		2203	4300	6503	SO:0001819	synonymous_variant	7625	exon6			CGAGTGCGGCAAG	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.1095C>T	22.37:g.20760418C>T			59	0	0		66	0.08	5	NM_001256524	25	0	0	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Silent	SNP	ENST00000400451.2	37	CCDS42982.1																																																																																					0.662	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319648.2		NM_003426		T	20760418	C	T	20760418	2	4	98	1	0	0	0	0	0	0	0	1	18150	776	27	1		1	ZNF74	22	20760418	Silent	SNP	C	TCGA-VF-A8AB-01A-31D-A435-10	348	20760418	30544148	79	7436											
AIFM3	150209	mdanderson.org	37	chr22	21334370	21334370	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtgtccaaggtcgctGaggtgctggcctcaggccgt	5	10	14	12	2	1	1	1	1	0	0	3	1	2	1	4	4	1	2	4	4	1	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr22:21334370G>T	ENST00000399167.2	+	19	1954	c.1714G>T	c.(1714-1716)Gag>Tag	p.E572*	AIFM3_ENST00000405089.1_Nonsense_Mutation_p.E578*|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.E572*|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_5'Flank|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.E572*|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Nonsense_Mutation_p.E572*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.E560*|LZTR1_ENST00000215739.8_5'Flank	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	572					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-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;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAAGGTCGCTGAGGTGCTGGC	0.627																																					p.E578X													.	AIFM3	49		0			c.G1732T												73	58	63					22																	21334370		2203	4300	6503	SO:0001587	stop_gained	150209	exon19			GTCGCTGAGGTGC	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1714G>T	22.37:g.21334370G>T	ENSP00000382120:p.Glu572*		31	0	0		41	0.07	3	NM_001146288	9	0	0	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Nonsense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	41	9.048298	0.99048	.	.	ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000099949	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607;ENST00000539817	.	.	.	4.87	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-22.1296	11.0041	0.47624	0.0903:0.0:0.9097:0.0	.	.	.	.	X	572;572;578;560;572;572;12	.	ENSP00000327671:E572X	E	+	1	0	AIFM3;LZTR1	19664370	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	6.761000	0.74945	1.286000	0.44565	0.655000	0.94253	GAG			0.627	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000320150.1		NM_144704		T	21334370	G	T	21334370	4	4	98	1	0	0	0	0	0	1	0	0	428	1291	45	3	1802	3	AIFM3	22	21334370	Nonsense_Mutation	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10	573952	21334370	29970196	80	7437											
FAM83F	113828	hgsc.bcm.edu	37	chr22	40391306	40391307	+	In_Frame_Ins	INS	-	-	CAAGGC																															gccaacgcccggggcaagagINScaaggccaaggccaaggccc																										TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr22:40391306_40391307insCAAGGC	ENST00000333407.6	+	1	354_355	c.260_261insCAAGGC	c.(259-264)agcaag>agCAAGGCcaag	p.92_93insAK		NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	92										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CGGGGCAAGAGCAAGGCCAAGG	0.757																																					p.S87delinsSKA													.	FAM83F	29		0			c.260_261insCAAGGC																																									SO:0001652	inframe_insertion	113828	exon1			GCAAGAGCAAGGC		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.273_278dupCAAGGC	22.37:g.40391307_40391312dupCAAGGC	ENSP00000330432:p.Ala91_Lys92dup		9	0	0		20	0.5	10	NM_138435	2	0	0	Q96FD6	In_Frame_Ins	INS	ENST00000333407.6	37	CCDS14000.2																																																																																					0.757	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319624.3		NM_138435		CAAGGC	40391307	-	CAAGGC	40391306	7	5	98	1	0	1	1	0	0	0	0	0	5651	971	34	0	262	0	FAM83F	22	40391306	In_Frame_Ins	INS	-	TCGA-VF-A8AB-01A-31D-A435-10	19056936	40391306	10913260	81	7438											
SAPS2	9701	mdanderson.org	37	chr22	50845165	50845165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttgtgatgtgccgcagaTcagcgaccgcctcggtgggg	6	8	16	11	4	1	2	1	1	0	1	2	4	1	2	3	3	2	1	3	3	0	1			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chr22:50845165T>C	ENST00000216061.5	+	5	645	c.275T>C	c.(274-276)aTc>aCc	p.I92T	PPP6R2_ENST00000359139.3_Missense_Mutation_p.I92T|PPP6R2_ENST00000395741.3_Missense_Mutation_p.I92T|PPP6R2_ENST00000395744.3_Missense_Mutation_p.I92T			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	92						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						GTGCCGCAGATCAGCGACCGC	0.537																																					p.I92T													.	PPP6R2	71		0			c.T275C												175	167	170					22																	50845165		2203	4300	6503	SO:0001583	missense	9701	exon4			CGCAGATCAGCGA	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.275T>C	22.37:g.50845165T>C	ENSP00000216061:p.Ile92Thr		44	0	0		56	0.05	3	NM_001242899	58	0	0	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37		.	.	.	.	.	.	.	.	.	.	t	21.2	4.119366	0.77323	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	H	0.94886	3.595	0.58432	D	0.999998	D;P;P;P;P	0.63880	0.993;0.5;0.521;0.633;0.521	D;B;P;B;P	0.63703	0.917;0.238;0.508;0.417;0.508	T	0.75744	-0.3210	10	0.87932	D	0	-19.593	14.1898	0.65630	0.0:0.0:0.0:1.0	.	92;92;92;92;92	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	T	92	ENSP00000352051:I92T;ENSP00000379090:I92T;ENSP00000379093:I92T;ENSP00000216061:I92T	ENSP00000216061:I92T	I	+	2	0	PPP6R2	49192031	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.047000	0.71038	2.004000	0.58718	0.449000	0.29647	ATC			0.537	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000316809.1		NM_014678		C	50845165	T	C	50845165	3	2	98	1	0	0	0	0	1	0	0	0	13860	1435	50	4	281	4	SAPS2	22	50845165	Missense_Mutation	SNP	T	TCGA-VF-A8AB-01A-31D-A435-10	10453859	50845165	459401	82	7439											
HAUS7	55559	mdanderson.org	37	chrX	152734605	152734605	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaactgatgcattaccGggtacacatccactctagga	14	8	9	10	1	1	2	0	1	1	1	2	4	2	3	2	2	4	2	2	2	5	3			TCGA-VF-A8AB-01A-31D-A435-10	TCGA-VF-A8AB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01d47985-e09b-4438-8c1b-820be9a3e0e3	16586582-b7cd-44b0-8494-76745a479e35	g.chrX:152734605G>T	ENST00000370211.4	-	2	296	c.253C>A	c.(253-255)Cgg>Agg	p.R85R	HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370210.1_Splice_Site_p.R75R|HAUS7_ENST00000370212.3_Splice_Site_p.R85R|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000334497.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	85					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						ATGCATTACCGGGTACACATC	0.552																																					p.R85R													.	HAUS7	44		0			c.C253A												204	172	183					X																	152734605		2203	4300	6503	SO:0001630	splice_region_variant	55559	exon2			ATTACCGGGTACA	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.254+1C>A	X.37:g.152734605G>T			48	0	0		57	0.05	3	NM_017518	106	0	0	B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Silent	SNP	ENST00000370211.4	37	CCDS35438.1																																																																																					0.552	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000060963.2		NM_017518	Silent	T	152734605	G	T	152734605	5	4	98	1	0	0	0	0	0	0	1	0	6986	1130	39	1	889	1	HAUS7	23	152734605	Splice_Site	SNP	G	TCGA-VF-A8AB-01A-31D-A435-10		152734605	2535955	83	7440											
SLC25A34	284723	mdanderson.org	37	chr1	16062988	16062988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccggaggccatggagaCggtgcccccagcagtggacc	7	4	16	14	2	0	1	0	0	0	1	0	4	0	3	5	6	2	1	5	6	0	0	rs546244503		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:16062988C>T	ENST00000294454.5	+	1	89	c.8C>T	c.(7-9)aCg>aTg	p.T3M	RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	3					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCATGGAGACGGTGCCCCCA	0.677													C|||	1	0.000199681	0	0	5008	,	,		17342	0		0	False		,,,				2504	0.001				p.T3M													.	.			0			c.C8T												6	6	6					1																	16062988		2088	4115	6203	SO:0001583	missense	284723	exon1			TGGAGACGGTGCC	BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"Solute carriers"	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.8C>T	1.37:g.16062988C>T	ENSP00000294454:p.Thr3Met		30	0	0		22	0.14	3	NM_207348	0		0	Q68DV0	Missense_Mutation	SNP	ENST00000294454.5	37	CCDS162.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245482	0.22796	.	.	ENSG00000162461	ENST00000294454	T	0.78246	-1.16	3.93	2.99	0.34606	Mitochondrial carrier domain (1);	0.602094	0.17423	N	0.174758	T	0.56171	0.1967	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.49934	-0.8886	10	0.54805	T	0.06	.	6.7832	0.23659	0.0:0.8643:0.0:0.1357	.	3	Q6PIV7	S2534_HUMAN	M	3	ENSP00000294454:T3M	ENSP00000294454:T3M	T	+	2	0	SLC25A34	15935575	0.000000	0.05858	0.404000	0.26397	0.019000	0.09904	0.318000	0.19504	0.939000	0.37446	0.462000	0.41574	ACG			0.677	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008467.1		NM_207348		T	16062988	C	T	16062988	3	4	99	1	0	0	0	0	1	0	0	0	14521	536	19	1	10	1	SLC25A34	1	16062988	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10		16062988	233187633	1	7441											
C1orf144	26099	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	16719757	16719757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaaagtgcccattGtgattcaggacgatagcctt	9	11	8	13	1	1	1	1	1	0	0	3	3	3	2	4	1	2	0	4	1	2	4			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:16719757G>T	ENST00000401088.4	+	3	311	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000401089.3_Missense_Mutation_p.V27L|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000492354.1_Missense_Mutation_p.V26L|SZRD1_ENST00000471507.1_Missense_Mutation_p.V45L|SZRD1_ENST00000375590.3_Missense_Mutation_p.V26L	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	46	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																AGTGCCCATTGTGATTCAGGA	0.567																																					p.V46L													.	SZRD1	1		0			c.G136T												112	117	116					1																	16719757		2024	4160	6184	SO:0001583	missense	26099	exon3			CCCATTGTGATTC	BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 144"	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.136G>T	1.37:g.16719757G>T	ENSP00000383866:p.Val46Leu		113	0	0		158	0.04	7	NM_001114600	113	0	0	A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	ENST00000401088.4	37	CCDS44065.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213115	0.95069	.	.	ENSG00000055070	ENST00000401088;ENST00000471507;ENST00000401089;ENST00000434120;ENST00000375590;ENST00000492354	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	M	0.68952	2.095	0.80722	D	1	D;P;P;D	0.67145	0.99;0.953;0.94;0.996	D;D;B;D	0.76071	0.986;0.935;0.415;0.987	T	0.77900	-0.2415	9	0.46703	T	0.11	-14.0142	17.5072	0.87749	0.0:0.0:1.0:0.0	.	26;46;26;27	F8WEE8;Q7Z422;Q7Z422-2;Q7Z422-4	.;CA144_HUMAN;.;.	L	46;45;27;46;26;26	.	ENSP00000364740:V26L	V	+	1	0	C1orf144	16592344	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.008000	0.76341	2.438000	0.82558	0.655000	0.94253	GTG			0.567	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000006283.2		NM_015609		T	16719757	G	T	16719757	3	4	99	1	0	0	0	0	1	0	0	0	2004	1377	48	3	146	3	C1orf144	1	16719757	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	656769	16719757	232530864	2	7442											
FAM43B	163933	mdanderson.org	37	chr1	20880251	20880251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggcgccgcgcctcagcaGcatccaggaggaggacgagg	8	2	18	13	5	1	0	1	0	0	0	2	4	2	3	3	6	2	2	3	6	0	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:20880251G>T	ENST00000332947.4	+	1	1320	c.785G>T	c.(784-786)aGc>aTc	p.S262I		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	262										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CGCCTCAGCAGCATCCaggag	0.761																																					p.S262I													.	.			0			c.G785T												4	5	4					1																	20880251		1801	3643	5444	SO:0001583	missense	163933	exon1			TCAGCAGCATCCA	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.785G>T	1.37:g.20880251G>T	ENSP00000331397:p.Ser262Ile		9	0	0		12	0.25	3	NM_207334	0		0	A5PKT8|A5PL01	Missense_Mutation	SNP	ENST00000332947.4	37	CCDS209.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589235	0.46110	.	.	ENSG00000183114	ENST00000332947	.	.	.	3.53	3.53	0.40419	.	0.281842	0.26248	U	0.025472	T	0.43166	0.1235	L	0.38175	1.15	0.43476	D	0.99569	P	0.43701	0.815	B	0.42625	0.393	T	0.45614	-0.9249	9	0.87932	D	0	.	8.9493	0.35779	0.0:0.23:0.77:0.0	.	262	Q6ZT52	FA43B_HUMAN	I	262	.	ENSP00000331397:S262I	S	+	2	0	FAM43B	20752838	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.358000	0.59442	1.522000	0.49001	0.313000	0.20887	AGC			0.761	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127759.1		NM_207334		T	20880251	G	T	20880251	3	4	99	1	0	0	0	0	1	0	0	0	5576	971	34	2	787	2	FAM43B	1	20880251	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	4160494	20880251	228370370	3	7443											
KIF17	57576	mdanderson.org	37	chr1	20996952	20996952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctgcagaggttttgcGggctggtttgttctgtggcc	2	15	16	8	1	2	1	0	0	2	1	2	1	2	1	1	4	3	6	1	4	0	4	rs376988005		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:20996952G>T	ENST00000247986.2	-	13	3065	c.2755C>A	c.(2755-2757)Cgc>Agc	p.R919S	KIF17_ENST00000375044.1_Missense_Mutation_p.R819S|KIF17_ENST00000400463.3_Missense_Mutation_p.R918S|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	919					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAGGTTTTGCGGGCTGGTTTG	0.602																																					p.R919S													.	.			0			c.C2755A												98	89	92					1																	20996952		2203	4300	6503	SO:0001583	missense	57576	exon13			TTTTGCGGGCTGG	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2755C>A	1.37:g.20996952G>T	ENSP00000247986:p.Arg919Ser		60	0	0		56	0.05	3	NM_020816	40	0	0	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302237	0.23736	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.73258	-0.73;-0.6;-0.59	5.32	3.25	0.37280	.	0.351548	0.14876	U	0.293242	T	0.68100	0.2964	L	0.55481	1.735	0.21861	N	0.999502	P;P;B	0.38827	0.517;0.649;0.376	B;P;B	0.45099	0.279;0.469;0.129	T	0.57136	-0.7863	10	0.34782	T	0.22	.	7.8194	0.29280	0.0913:0.0:0.7091:0.1995	.	919;918;919	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	S	819;918;919;300	ENSP00000364184:R819S;ENSP00000383311:R918S;ENSP00000247986:R919S	ENSP00000247986:R919S	R	-	1	0	KIF17	20869539	0.063000	0.20901	0.777000	0.31699	0.286000	0.27126	0.798000	0.27014	1.252000	0.44001	-0.126000	0.14955	CGC			0.602	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000276995.1		NM_020816		T	20996952	G	T	20996952	3	4	99	1	0	0	0	0	1	0	0	0	8294	1116	39	1	346	1	KIF17	1	20996952	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	116701	20996952	228253669	4	7444											
ZBTB8OS	339487	broad.mit.edu	37	chr1	33099658	33099658	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttcctccagagtatcTccccatgcgtgtaacctaaa	11	11	6	13	1	1	1	0	0	1	1	4	1	3	1	5	0	3	3	5	0	5	4			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:33099658T>C	ENST00000468695.1	-	3	192	c.174A>G	c.(172-174)ggA>ggG	p.G58G	ZBTB8OS_ENST00000341885.5_Intron|ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000373501.2_Silent_p.G46G	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	46					tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	extracellular vesicular exosome (GO:0070062)|tRNA-splicing ligase complex (GO:0072669)	metal ion binding (GO:0046872)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCAGAGTATCTCCCCATGCGT	0.408																																					p.G58G													.	ZBTB8OS	9		0			c.A174G												106	94	98					1																	33099658		2203	4300	6503	SO:0001819	synonymous_variant	339487	exon3			AGTATCTCCCCAT	AY151084	CCDS365.1	1p35.1	2010-09-30			ENSG00000176261	ENSG00000176261			24094	protein-coding gene	gene with protein product	"archease"	615891				12477932	Standard	NM_178547		Approved	ARCH	uc001bvp.3	Q8IWT0	OTTHUMG00000007856	ENST00000468695.1:c.174A>G	1.37:g.33099658T>C			177	0	0		171	0.02	3	NM_178547	216	0	0	Q5TGK5|Q6PDA1|Q8IWS9|Q8NEV6|Q8NEV7	Silent	SNP	ENST00000468695.1	37	CCDS365.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407922	0.25378	.	.	ENSG00000176261	ENST00000436661	.	.	.	5.35	-0.0126	0.13988	.	.	.	.	.	T	0.42223	0.1193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23619	-1.0183	4	.	.	.	-26.2759	2.1445	0.03783	0.1278:0.1453:0.1329:0.5939	.	.	.	.	G	57	.	.	R	-	1	2	ZBTB8OS	32872245	0.981000	0.34729	0.953000	0.39169	0.992000	0.81027	0.095000	0.15127	0.089000	0.17243	0.459000	0.35465	AGA			0.408	ZBTB8OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021669.3		NM_178547		C	33099658	T	C	33099658	2	2	99	1	0	0	0	0	0	0	0	1	17580	1538	54	4		4	ZBTB8OS	1	33099658	Silent	SNP	T	TCGA-VF-A8AC-01A-11D-A435-10	12102706	33099658	216150963	5	7445											
FAM176B	55194	mdanderson.org	37	chr1	36788239	36788239	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgggcggggcgcccacGagatgctgatgacgagcagg	7	3	19	12	6	0	3	0	2	0	1	0	5	0	3	2	4	2	2	2	4	0	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:36788239G>T	ENST00000270824.1	-	3	446	c.155C>A	c.(154-156)tCg>tAg	p.S52*	SH3D21_ENST00000474766.1_3'UTR|RP11-268J15.5_ENST00000373137.2_5'Flank|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	52						integral component of membrane (GO:0016021)											gggcgcccACGAGATGCTGAT	0.731																																					p.S52X													.	.			0			c.C155A												2	2	2					1																	36788239		1298	2784	4082	SO:0001587	stop_gained	55194	exon3			GCCCACGAGATGC	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 78", "family with sequence similarity 176, member B"	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.155C>A	1.37:g.36788239G>T	ENSP00000270824:p.Ser52*		21	0	0		43	0.07	3	NM_018166	68	0	0	D3DPS7	Nonsense_Mutation	SNP	ENST00000270824.1	37	CCDS406.1	.	.	.	.	.	.	.	.	.	.	G	38	7.023416	0.98010	.	.	ENSG00000142694	ENST00000270824	.	.	.	4.79	4.79	0.61399	.	0.058243	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.1724	16.3993	0.83633	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000270824:S52X	S	-	2	0	FAM176B	36560826	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.803000	0.85983	2.194000	0.70268	0.462000	0.41574	TCG			0.731	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021689.1		NM_018166		T	36788239	G	T	36788239	4	4	99	1	0	0	0	0	0	1	0	0	5510	1059	37	1	346	1	FAM176B	1	36788239	Nonsense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	3688581	36788239	212462382	6	7446											
KIAA0467	23334	bcgsc.ca;mdanderson.org	37	chr1	43906994	43906994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaccgagagtgttcGgactcctggtggagctgagc	10	8	13	10	2	1	2	1	1	0	1	3	5	2	4	2	3	3	2	2	3	2	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:43906994G>A	ENST00000562955.1	+	52	7283	c.7283G>A	c.(7282-7284)cGg>cAg	p.R2428Q	SZT2_ENST00000372442.1_Missense_Mutation_p.R1586Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2485					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGAGTGTTCGGACTCCTGGT	0.582																																					p.R2428Q													.	SZT2	383		0			c.G7283A												72	76	75					1																	43906994		2203	4300	6503	SO:0001583	missense	23334	exon52			GTGTTCGGACTCC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7283G>A	1.37:g.43906994G>A	ENSP00000457168:p.Arg2428Gln		89	0	0		93	0.05	5	NM_015284	48	0	0	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408179	0.62399	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.41	5.41	0.78517	.	0.137001	0.51477	D	0.000086	T	0.20495	0.0493	L	0.29908	0.895	0.21950	N	0.999455	B	0.34181	0.44	B	0.19148	0.024	T	0.14200	-1.0481	9	0.29301	T	0.29	.	8.2513	0.31724	0.1706:0.0:0.8294:0.0	.	2428	Q5T011-5	.	Q	1586	.	ENSP00000361519:R1586Q	R	+	2	0	SZT2	43679581	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.320000	0.51991	2.708000	0.92522	0.591000	0.81541	CGG			0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019517.3		NM_015284		A	43906994	G	A	43906994	3	1	99	1	0	0	0	0	1	0	0	0	8193	1116	39	1	4899	1	KIAA0467	1	43906994	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	7118755	43906994	205343627	7	7447											
CHI3L1	1116	bcgsc.ca	37	chr1	203148983	203148983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggattctatggactgtgGctccgcggaggaagtcacag	9	8	15	9	3	2	0	1	0	1	0	3	5	3	4	1	5	0	1	1	5	2	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:203148983G>T	ENST00000255409.3	-	9	1042	c.917C>A	c.(916-918)gCc>gAc	p.A306D		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	306					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						ATGGACTGTGGCTCCGCGGAG	0.577																																					p.A306D													.	CHI3L1	51		0			c.C917A												135	116	123					1																	203148983		2203	4300	6503	SO:0001583	missense	1116	exon9			ACTGTGGCTCCGC	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.917C>A	1.37:g.203148983G>T	ENSP00000255409:p.Ala306Asp		88	0.0113636364	1		86	0.06	5	NM_001276	1	0	0	B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	CCDS1435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.486567|4.486567	0.84854|0.84854	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000255409|ENST00000404436	T|.	0.47869|.	0.83|.	4.73|4.73	4.73|4.73	0.59995|0.59995	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.000000|.	0.51477|.	D|.	0.000091|.	T|T	0.80182|0.80182	0.4576|0.4576	M|M	0.88512|0.88512	2.96|2.96	0.49582|0.49582	D|D	0.999801|0.999801	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.99;1.0|.	D|D	0.84027|0.84027	0.0357|0.0357	10|5	0.87932|.	D|.	0|.	-26.5402|-26.5402	15.206|15.206	0.73180|0.73180	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	42;306|.	B3KTE6;P36222|.	.;CH3L1_HUMAN|.	D|R	306|74	ENSP00000255409:A306D|.	ENSP00000255409:A306D|.	A|S	-|-	2|3	0|2	CHI3L1|CHI3L1	201415606|201415606	1.000000|1.000000	0.71417|0.71417	0.532000|0.532000	0.27989|0.27989	0.876000|0.876000	0.50452|0.50452	2.944000|2.944000	0.49034|0.49034	2.161000|2.161000	0.67846|0.67846	0.313000|0.313000	0.20887|0.20887	GCC|AGC			0.577	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000100265.1		NM_001276		T	203148983	G	T	203148983	3	4	99	1	0	0	0	0	1	0	0	0	3342	1203	42	2	242	2	CHI3L1	1	203148983	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	159241989	203148983	46101638	8	7448											
TAF5L	27097	broad.mit.edu	37	chr1	229737976	229737976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcacaagccaaatggatgCgggacacgtctacttggtgg	11	9	12	9	2	2	0	1	0	1	0	2	2	2	2	1	4	3	0	1	4	4	3			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:229737976C>T	ENST00000366676.1	-	3	937	c.938G>A	c.(937-939)cGc>cAc	p.R313H	TAF5L_ENST00000366675.3_Missense_Mutation_p.R313H|TAF5L_ENST00000258281.2_Missense_Mutation_p.R313H			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	313					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CAAATGGATGCGGGACACGTC	0.443																																					p.R313H													.	TAF5L	76		0			c.G938A												77	70	72					1																	229737976		2203	4300	6503	SO:0001583	missense	27097	exon4			TGGATGCGGGACA	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.938G>A	1.37:g.229737976C>T	ENSP00000355636:p.Arg313His		194	0.0051546392	1		222	0.02	5	NM_001025247	46	0	0	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375029	0.42105	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.59364	0.27;0.27;0.91	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.253488	0.44688	N	0.000431	T	0.55016	0.1894	L	0.46741	1.465	0.41904	D	0.990432	B;B	0.14805	0.011;0.006	B;B	0.09377	0.004;0.001	T	0.47824	-0.9087	10	0.40728	T	0.16	-23.4756	20.0291	0.97531	0.0:1.0:0.0:0.0	.	313;313	O75529-2;O75529	.;TAF5L_HUMAN	H	313	ENSP00000355636:R313H;ENSP00000258281:R313H;ENSP00000355635:R313H	ENSP00000258281:R313H	R	-	2	0	TAF5L	227804599	0.993000	0.37304	0.999000	0.59377	0.999000	0.98932	1.083000	0.30815	2.738000	0.93877	0.650000	0.86243	CGC			0.443	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095229.1		NM_014409		T	229737976	C	T	229737976	3	4	99	1	0	0	0	0	1	0	0	0	15552	768	27	1	845	1	TAF5L	1	229737976	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10	26588993	229737976	19512645	9	7449											
EDARADD	128178	mdanderson.org	37	chr1	236631562	236631562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctttccagatagcactgGagatcctcttccaggtaaat	10	12	9	10	0	1	2	0	0	1	2	4	3	4	2	3	3	1	3	3	3	3	4			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr1:236631562G>T	ENST00000334232.4	+	5	418	c.251G>T	c.(250-252)gGa>gTa	p.G84V	EDARADD_ENST00000359362.5_Missense_Mutation_p.G74V	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	84					cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GATAGCACTGGAGATCCTCTT	0.383																																					p.G84V													.	.			0			c.G251T												141	147	145					1																	236631562		2203	4300	6503	SO:0001583	missense	128178	exon5			GCACTGGAGATCC	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.251G>T	1.37:g.236631562G>T	ENSP00000335076:p.Gly84Val		82	0	0		93	0.05	5	NM_145861	0		0	A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Missense_Mutation	SNP	ENST00000334232.4	37	CCDS1610.1	.	.	.	.	.	.	.	.	.	.	g	6.760	0.509168	0.12883	.	.	ENSG00000186197	ENST00000439430;ENST00000334232;ENST00000359362	T;T;T	0.80393	0.89;-0.79;-1.37	5.17	0.964	0.19655	.	1.201560	0.06408	U	0.719981	T	0.74535	0.3729	L	0.56769	1.78	0.23882	N	0.996575	B;B	0.20052	0.041;0.012	B;B	0.18263	0.021;0.021	T	0.54227	-0.8325	10	0.30078	T	0.28	.	4.9558	0.14038	0.3461:0.1455:0.5084:0.0	.	74;84	A8K7B5;Q8WWZ3	.;EDAD_HUMAN	V	62;84;74	ENSP00000405815:G62V;ENSP00000335076:G84V;ENSP00000352320:G74V	ENSP00000335076:G84V	G	+	2	0	EDARADD	234698185	1.000000	0.71417	0.170000	0.22879	0.635000	0.38103	1.408000	0.34668	-0.082000	0.12640	-0.264000	0.10439	GGA			0.383	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000096368.1		NM_145861		T	236631562	G	T	236631562	3	4	99	1	0	0	0	0	1	0	0	0	4911	1174	41	3	304	3	EDARADD	1	236631562	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	6893586	236631562	12619059	10	7450											
HTRA2	27429	broad.mit.edu	37	chr2	74757212	74757212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggcattcgctgggggAggagaccccgtttgacccct	5	8	17	11	2	0	2	0	1	0	1	1	4	0	3	4	6	0	3	4	6	0	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr2:74757212A>G	ENST00000258080.3	+	1	709	c.79A>G	c.(79-81)Agg>Ggg	p.R27G	HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Missense_Mutation_p.R27G	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	27					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGCTGGGGGAGGAGACCCCG	0.711																																					p.R27G													.	HTRA2	22		0			c.A79G												14	20	18					2																	74757212		2148	4221	6369	SO:0001583	missense	27429	exon1			TGGGGGAGGAGAC		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.79A>G	2.37:g.74757212A>G	ENSP00000258080:p.Arg27Gly		80	0.0625	5		130	0.08	11	NM_013247	12	0	0	Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	a	9.801	1.180553	0.21787	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	T;T;T	0.16743	2.32;2.32;2.32	5.0	3.85	0.44370	.	1.020890	0.07806	N	0.957260	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18310	0.016;0.027;0.027;0.016	B;B;B;B	0.19391	0.011;0.025;0.025;0.007	T	0.13150	-1.0520	10	0.87932	D	0	-0.6842	5.819	0.18516	0.8099:0.0:0.1901:0.0	.	27;27;27;27	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	G	27;27;14	ENSP00000258080:R27G;ENSP00000312893:R27G;ENSP00000399166:R14G	ENSP00000258080:R27G	R	+	1	2	HTRA2	74610720	0.000000	0.05858	0.377000	0.26055	0.257000	0.26127	0.640000	0.24705	2.013000	0.59113	0.375000	0.23000	AGG			0.711	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252219.2		NM_013247		G	74757212	A	G	74757212	3	3	99	1	0	0	0	0	1	0	0	0	7469	295	11	4	81	4	HTRA2	2	74757212	Missense_Mutation	SNP	A	TCGA-VF-A8AC-01A-11D-A435-10		74757212	168442161	11	7451											
HK2	3099	broad.mit.edu	37	chr2	75105841	75105841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcatccggaaggcccGtgaggtcctgatgcggttgg	6	8	18	9	3	0	2	0	2	0	0	2	4	2	4	3	7	1	2	3	7	1	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr2:75105841G>A	ENST00000290573.2	+	9	1658	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	HK2_ENST00000409174.1_Missense_Mutation_p.R325H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	353	Hexokinase type-2 1.|Regulatory.		R -> C (in dbSNP:rs61748096). {ECO:0000269|PubMed:7883120}.		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						CGGAAGGCCCGTGAGGTCCTG	0.632																																					p.R353H													.	HK2	85		0			c.G1058A												34	26	29					2																	75105841		2199	4297	6496	SO:0001583	missense	3099	exon9			AGGCCCGTGAGGT		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.1058G>A	2.37:g.75105841G>A	ENSP00000290573:p.Arg353His		298	0	0		381	0.01	4	NM_000189	4	0	0	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782262	0.31502	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96651	-4.08;-4.08	4.65	-3.72	0.04411	Hexokinase, C-terminal (1);	0.722806	0.14247	N	0.331688	D	0.91078	0.7192	L	0.55834	1.745	0.09310	N	1	B	0.27656	0.184	B	0.27076	0.076	T	0.81217	-0.1033	10	0.13108	T	0.6	-1.6936	4.6862	0.12758	0.5194:0.0:0.2105:0.2701	.	353	P52789	HXK2_HUMAN	H	353;353;325	ENSP00000290573:R353H;ENSP00000387140:R325H	ENSP00000290573:R353H	R	+	2	0	HK2	74959349	0.000000	0.05858	0.043000	0.18650	0.971000	0.66376	0.535000	0.23114	-0.466000	0.06943	0.655000	0.94253	CGT			0.632	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252238.2		NM_000189		A	75105841	G	A	75105841	3	1	99	1	0	0	0	0	1	0	0	0	7206	1145	40	1	1092	1	HK2	2	75105841	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	348629	75105841	168093532	12	7452											
SAP130	79595	mdanderson.org	37	chr2	128770644	128770644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgtactgctggctgaGcagtagcagcatttggcagc	7	11	14	9	0	0	1	0	1	0	0	0	1	0	1	0	2	7	9	0	2	2	3			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr2:128770644G>T	ENST00000259235.3	-	6	911	c.782C>A	c.(781-783)gCt>gAt	p.A261D	SAP130_ENST00000259234.6_Missense_Mutation_p.A235D|SAP130_ENST00000357702.5_Missense_Mutation_p.A261D	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	261					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGCTGGCTGAGCAGTAGCAGC	0.517																																					p.A261D													.	.			0			c.C782A												90	83	85					2																	128770644		2203	4300	6503	SO:0001583	missense	79595	exon6			GGCTGAGCAGTAG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.782C>A	2.37:g.128770644G>T	ENSP00000259235:p.Ala261Asp		71	0	0		81	0.06	5	NM_001145928	51	0	0	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466463	0.63625	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298	.	.	.	5.56	5.56	0.83823	.	0.094335	0.64402	D	0.000001	T	0.58148	0.2102	N	0.19112	0.55	0.54753	D	0.999989	P;D;P	0.61697	0.902;0.99;0.952	P;P;P	0.58780	0.602;0.845;0.677	T	0.50988	-0.8762	9	0.13108	T	0.6	-16.0534	19.5058	0.95114	0.0:0.0:1.0:0.0	.	261;235;261	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	D	261;261;235;235	.	ENSP00000259234:A235D	A	-	2	0	SAP130	128487114	1.000000	0.71417	0.400000	0.26346	0.961000	0.63080	4.630000	0.61297	2.611000	0.88343	0.561000	0.74099	GCT			0.517	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000254436.3		NM_024545		T	128770644	G	T	128770644	3	4	99	1	0	0	0	0	1	0	0	0	13854	971	34	2	2533	2	SAP130	2	128770644	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	53664803	128770644	114428729	13	7453											
TANK	10010	broad.mit.edu	37	chr2	162087512	162087512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcctatacagtgtaCggataaaacagataaacaag	16	9	8	8	1	1	1	0	0	1	1	1	2	1	2	1	1	5	1	1	1	8	5			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr2:162087512C>T	ENST00000392749.2	+	7	790	c.551C>T	c.(550-552)aCg>aTg	p.T184M	TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.T184M|TANK_ENST00000405852.1_Missense_Mutation_p.T184M|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	184	TRAF family member interaction.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						ATACAGTGTACGGATAAAACA	0.408																																					p.T184M													.	TANK	35		0			c.C551T												49	46	47					2																	162087512		2203	4300	6503	SO:0001583	missense	10010	exon7			AGTGTACGGATAA	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.551C>T	2.37:g.162087512C>T	ENSP00000376505:p.Thr184Met		285	0	0		240	0.03	6	NM_004180	40	0	0	D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943267	0.73672	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000429217;ENST00000405852;ENST00000437623	T;T;T;T	0.57107	1.55;1.55;1.14;0.42	5.78	5.78	0.91487	Tbk1/Ikki binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73519	-0.3957	10	0.87932	D	0	-7.9361	19.3632	0.94451	0.0:1.0:0.0:0.0	.	184	Q92844	TANK_HUMAN	M	184;184;185;184;75	ENSP00000259075:T184M;ENSP00000376505:T184M;ENSP00000385487:T184M;ENSP00000412556:T75M	ENSP00000259075:T184M	T	+	2	0	TANK	161795758	1.000000	0.71417	0.973000	0.42090	0.992000	0.81027	6.113000	0.71553	2.894000	0.99253	0.591000	0.81541	ACG			0.408	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324232.1		NM_133484		T	162087512	C	T	162087512	3	4	99	1	0	0	0	0	1	0	0	0	15569	536	19	1	606	1	TANK	2	162087512	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10	33316868	162087512	81111861	14	7454											
C2orf77	129881	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	170537595	170537595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgcctttctttctgcacgGaggcatgctgcttctcttgt	3	18	9	11	1	3	0	0	0	3	0	4	1	3	1	1	2	4	4	1	2	0	5			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr2:170537595G>T	ENST00000447353.1	-	2	321	c.216C>A	c.(214-216)ctC>ctA	p.L72L		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	72																	TTTCTGCACGGAGGCATGCTG	0.428																																					p.L72L													.	.			0			c.C216A												209	205	207					2																	170537595		2019	4178	6197	SO:0001819	synonymous_variant	129881	exon2			TGCACGGAGGCAT	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.216C>A	2.37:g.170537595G>T			170	0	0		178	0.04	8	NM_001085447	1	0	0	Q6PJF6	Silent	SNP	ENST00000447353.1	37	CCDS46445.1																																																																																					0.428	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333954.2		NM_001085447		T	170537595	G	T	170537595	2	4	99	1	0	0	0	0	0	0	0	1	2196	1161	41	3		3	C2orf77	2	170537595	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	8450083	170537595	72661778	15	7455											
OBSL1	23363	mdanderson.org	37	chr2	220430190	220430190	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgctctgaggttgtgaaGgtcaacgacaccctgtcctg	8	9	11	13	2	2	2	1	2	1	0	3	3	3	2	3	2	1	2	3	2	2	1	rs199883250		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr2:220430190G>T	ENST00000404537.1	-	6	2237	c.2181C>A	c.(2179-2181)acC>acA	p.T727T	OBSL1_ENST00000289656.3_Silent_p.T314T|OBSL1_ENST00000603926.1_Silent_p.T727T|OBSL1_ENST00000373873.4_Silent_p.T727T|OBSL1_ENST00000373876.1_Silent_p.T727T|OBSL1_ENST00000265318.4_Silent_p.T727T	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	727	Ig-like 5.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTTGTGAAGGTCAACGACA	0.602											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.T727T													.	.			0			c.C2181A												98	98	98					2																	220430190		2062	4205	6267	SO:0001819	synonymous_variant	23363	exon6			TGTGAAGGTCAAC	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2181C>A	2.37:g.220430190G>T			45	0	0	2266	32	0.09	3	NM_001173431	87	0	0	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																			0.001		0.602	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322012.1				T	220430190	G	T	220430190	2	4	99	1	0	0	0	0	0	0	0	1	10830	987	35	3		3	OBSL1	2	220430190	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	49892595	220430190	22769183	16	7456											
HESX1	8820	broad.mit.edu	37	chr3	57232488	57232488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatcgataccaggatagcaGtttactctaaagacattttc	14	13	6	8	1	1	1	0	0	1	1	3	3	1	2	1	1	3	2	1	1	6	8			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr3:57232488G>T	ENST00000295934.3	-	3	426	c.390C>A	c.(388-390)aaC>aaA	p.N130K	HESX1_ENST00000473921.1_Intron	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	130					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		CAGGATAGCAGTTTACTCTAA	0.289																																					p.N130K	Esophageal Squamous(84;267 1272 9034 48993 52677)												.	HESX1	26		0			c.C390A												45	47	47					3																	57232488		2202	4285	6487	SO:0001583	missense	8820	exon3			ATAGCAGTTTACT	AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"Homeoboxes / PRD class"	4877	protein-coding gene	gene with protein product		601802	"homeobox, ES cell expressed 1"			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.390C>A	3.37:g.57232488G>T	ENSP00000295934:p.Asn130Lys		256	0	0		253	0.02	6	NM_003865	9	0	0	Q52LC5|Q99667	Missense_Mutation	SNP	ENST00000295934.3	37	CCDS2881.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183536	0.57800	.	.	ENSG00000163666	ENST00000295934	D	0.96300	-3.97	5.61	2.85	0.33270	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95227	0.8339	10	0.59425	D	0.04	-20.2374	9.0885	0.36596	0.2811:0.0:0.7189:0.0	.	130	Q9UBX0	HESX1_HUMAN	K	130	ENSP00000295934:N130K	ENSP00000295934:N130K	N	-	3	2	HESX1	57207528	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.551000	0.45820	0.311000	0.23014	-0.237000	0.12165	AAC			0.289	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351430.2				T	57232488	G	T	57232488	3	4	99	1	0	0	0	0	1	0	0	0	7087	1020	36	3	175	3	HESX1	3	57232488	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		57232488	140789942	17	7457											
ACAD11	84129	mdanderson.org	37	chr3	132277850	132277850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcttttggcttggtcccGcagctccattgttgcgattg	4	15	11	11	2	1	0	0	0	1	0	3	1	3	0	2	2	2	4	2	2	0	6	rs200376706	byFrequency	TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr3:132277850G>A	ENST00000264990.6	-	20	3279	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	ACAD11_ENST00000355458.3_Missense_Mutation_p.R666W|ACAD11_ENST00000545291.1_Missense_Mutation_p.R295W	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	770					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCTTGGTCCCGCAGCTCCATT	0.463													G|||	2	0.000399361	0	0	5008	,	,		18874	0.002		0	False		,,,				2504	0				p.R770W													ACAD11,NS,carcinoma,0,1	ACAD11	0	1	0			c.C2308T												128	114	119					3																	132277850		2203	4299	6502	SO:0001583	missense	84129	exon20			GGTCCCGCAGCTC	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2308C>T	3.37:g.132277850G>A	ENSP00000264990:p.Arg770Trp		111	0	0		112	0.05	6	NM_032169	211	0	0	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	CCDS3074.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.504	0.653178	0.14580	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.96300	-3.97;-3.97;-3.97	5.28	2.49	0.30216	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	.	.	.	.	D	0.94479	0.8223	M	0.82823	2.61	0.09310	N	0.999999	B	0.14438	0.01	B	0.08055	0.003	D	0.88080	0.2806	9	0.62326	D	0.03	.	1.5586	0.02589	0.1585:0.1589:0.4014:0.2811	.	770	Q709F0	ACD11_HUMAN	W	666;770;295	ENSP00000347636:R666W;ENSP00000264990:R770W;ENSP00000446263:R295W	ENSP00000264990:R770W	R	-	1	2	ACAD11	133760540	0.003000	0.15002	0.038000	0.18304	0.020000	0.10135	1.442000	0.35046	0.212000	0.20703	0.655000	0.94253	CGG	0		0.463	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357279.2		NM_032169		A	132277850	G	A	132277850	3	1	99	1	0	0	0	0	1	0	0	0	109	1086	38	1	38	1	ACAD11	3	132277850	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	75045362	132277850	65744580	18	7458											
CRMP1	1400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	5837737	5837737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaatccgccctttccttgGgtacaggttaaagatcttgg	8	12	11	10	1	1	1	0	0	1	1	3	1	3	1	3	4	1	3	3	4	4	5			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr4:5837737G>A	ENST00000397890.2	-	11	1400	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.P394S|CRMP1_ENST00000324989.7_Missense_Mutation_p.P510S	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	396					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTTTCCTTGGGTACAGGTTA	0.527																																					p.P510S													.	.			0			c.C1528T												144	132	136					4																	5837737		2203	4300	6503	SO:0001583	missense	1400	exon11			TCCTTGGGTACAG	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1186C>T	4.37:g.5837737G>A	ENSP00000380987:p.Pro396Ser		154	0	0		142	0.17	24	NM_001014809	13	0.15	2	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597390	0.87055	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.89746	-2.56;-2.56;-2.56	4.33	4.33	0.51752	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	H	0.97732	4.065	0.80722	D	1	D;D;D;P	0.67145	0.988;0.996;0.988;0.946	D;D;D;P	0.71414	0.973;0.963;0.963;0.755	D	0.97902	1.0303	10	0.87932	D	0	-23.8091	16.3427	0.83092	0.0:0.0:1.0:0.0	.	510;394;396;333	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	S	510;396;396;394	ENSP00000321606:P510S;ENSP00000380987:P396S;ENSP00000425742:P394S	ENSP00000321606:P510S	P	-	1	0	CRMP1	5888638	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.213000	0.95133	2.418000	0.82041	0.508000	0.49915	CCA			0.527	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358871.1		NM_001313		A	5837737	G	A	5837737	3	1	99	1	0	0	0	0	1	0	0	0	3892	1232	43	3	548	3	CRMP1	4	5837737	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		5837737	185316539	19	7459											
DNAH5	1767	broad.mit.edu	37	chr5	13830171	13830171	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaattcagggttcatagtCacattatctccatcagtaaa	14	12	5	10	0	5	0	4	0	1	0	6	0	5	0	2	1	0	2	2	1	5	5			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr5:13830171C>G	ENST00000265104.4	-	37	6317	c.6213G>C	c.(6211-6213)gtG>gtC	p.V2071V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2071	AAA 1. {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)					GGTTCATAGTCACATTATCTC	0.388									Kartagener syndrome																												p.V2071V													.	DNAH5	868		0			c.G6213C												89	87	87					5																	13830171		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon37	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CATAGTCACATTA	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.6213G>C	5.37:g.13830171C>G			326	0.0030674847	1		281	0.01	4	NM_001369	0		0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																					0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207057.2		NM_001369		G	13830171	C	G	13830171	2	3	99	1	0	0	0	0	0	0	0	1	4609	813	29	5		5	DNAH5	5	13830171	Silent	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10		13830171	167085089	20	7460											
BASP1	10409	mdanderson.org	37	chr5	17275706	17275706	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgctgaggccgccgcGgccccggccgagagcgcggc	6	2	17	16	7	0	2	0	1	0	1	0	3	0	2	5	4	3	2	5	4	1	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr5:17275706G>T	ENST00000322611.3	+	2	641	c.381G>T	c.(379-381)gcG>gcT	p.A127A		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	127					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						Aggccgccgcggccccggccg	0.776																																					p.A127A													.	.			0			c.G381T												1	2	1					5																	17275706		1089	2424	3513	SO:0001819	synonymous_variant	10409	exon2			CGCCGCGGCCCCG	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.381G>T	5.37:g.17275706G>T			20	0	0		20	0.1	2	NM_006317	4	0	0	B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	CCDS3888.1																																																																																					0.776	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253716.2				T	17275706	G	T	17275706	2	4	99	1	0	0	0	0	0	0	0	1	1317	1103	39	1		1	BASP1	5	17275706	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	3445535	17275706	163639554	21	7461											
MEGF10	84466	mdanderson.org	37	chr5	126792994	126792994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagcagcagcaacagcaGcagcagcagtgaatgacacc	14	4	12	11	0	0	2	0	2	0	0	0	2	0	2	1	1	8	8	1	1	3	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr5:126792994G>T	ENST00000274473.6	+	26	3674	c.3407G>T	c.(3406-3408)aGc>aTc	p.S1136I	MEGF10_ENST00000503335.2_Missense_Mutation_p.S1136I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1136	Necessary for formation of large intracellular vacuoles.|Ser-rich.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		agcaacagcagcagcagcagT	0.507																																					p.S1136I													.	.			0			c.G3407T												67	56	60					5																	126792994		2203	4300	6503	SO:0001583	missense	84466	exon25			ACAGCAGCAGCAG	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3407G>T	5.37:g.126792994G>T	ENSP00000274473:p.Ser1136Ile		28	0	0		39	0.08	3	NM_001256545	0		0	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609030	0.28623	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.80393	-1.37;-1.37	5.28	4.42	0.53409	.	0.497156	0.18042	N	0.153577	T	0.62454	0.2429	N	0.08118	0	0.24991	N	0.991536	B	0.12013	0.005	B	0.09377	0.004	T	0.56902	-0.7902	10	0.72032	D	0.01	-2.4345	8.6505	0.34031	0.1387:0.0:0.7358:0.1255	.	1136	Q96KG7	MEG10_HUMAN	I	1136	ENSP00000423354:S1136I;ENSP00000274473:S1136I	ENSP00000274473:S1136I	S	+	2	0	MEGF10	126820893	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	0.923000	0.28757	1.562000	0.49601	0.650000	0.86243	AGC			0.507	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250973.2		NM_032446		T	126792994	G	T	126792994	3	4	99	1	0	0	0	0	1	0	0	0	9476	971	34	2	3501	2	MEGF10	5	126792994	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	109517288	126792994	54122266	22	7462											
PCDHA13	56136	mdanderson.org	37	chr5	140263827	140263827	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaccacggtgagcccgcGctgacggccacggcaacggt	9	3	15	14	6	0	2	0	2	0	0	0	3	0	3	3	5	2	2	3	5	2	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr5:140263827G>T	ENST00000289272.2	+	1	1974	c.1974G>T	c.(1972-1974)gcG>gcT	p.A658A	PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.A658A|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	658	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCCCGCGCTGACGGCCA	0.697																																					p.A658A	Melanoma(147;1739 1852 5500 27947 37288)												.	.			0			c.G1974T												53	53	53					5																	140263827		2203	4298	6501	SO:0001819	synonymous_variant	56136	exon1			GCCCGCGCTGACG	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1974G>T	5.37:g.140263827G>T			40	0	0		47	0.06	3	NM_031865	0		0	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																					0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335000.1		NM_018904		T	140263827	G	T	140263827	2	4	99	1	0	0	0	0	0	0	0	1	11540	1074	38	1		1	PCDHA13	5	140263827	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	13470833	140263827	40651433	23	7463											
FAF2	23197	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	175875462	175875462	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagacagagaagctgctGcagtttcaggtagcagcgag	12	6	15	8	1	1	2	1	0	0	2	1	5	1	2	0	1	6	7	0	1	2	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr5:175875462G>A	ENST00000261942.6	+	1	107	c.54G>A	c.(52-54)ctG>ctA	p.L18L		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	18	UBA.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGAAGCTGCTGCAGTTTCAGG	0.627																																					p.L18L													.	.			0			c.G54A												38	37	37					5																	175875462		2195	4294	6489	SO:0001819	synonymous_variant	23197	exon1			GCTGCTGCAGTTT	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.54G>A	5.37:g.175875462G>A			77	0	0		68	0.25	17	NM_014613	13	0.54	7	O94963|Q8IUF2|Q9BRP2|Q9BVM7	Silent	SNP	ENST00000261942.6	37	CCDS34296.1																																																																																					0.627	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372194.1		NM_014613		A	175875462	G	A	175875462	2	1	99	1	0	0	0	0	0	0	0	1	5380	1306	46	2		2	FAF2	5	175875462	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	35611635	175875462	5039798	24	7464											
BTN2A2	10385	hgsc.bcm.edu	37	chr6	26384092	26384092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctccctgccagcctccCtcctcctcctcctgctcctc	2	12	3	24	0	1	0	0	0	1	0	9	0	7	0	9	0	3	1	9	0	0	1	rs546542545		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr6:26384092C>T	ENST00000356709.4	+	2	154	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	BTN2A2_ENST00000482536.1_Missense_Mutation_p.L15F|BTN2A2_ENST00000432533.2_Missense_Mutation_p.L15F|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L15F|BTN2A2_ENST00000352867.2_Missense_Mutation_p.L15F|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L15F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	15					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GCCAGCCTCcctcctcctcct	0.587																																					p.L15F													BTN2A2_ENST00000432533,bladder,carcinoma,-1,2	BTN2A2_ENST00000432533	-1	2	0			c.C43T												191	138	156					6																	26384092		2203	4300	6503	SO:0001583	missense	10385	exon2			GCCTCCCTCCTCC	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.43C>T	6.37:g.26384092C>T	ENSP00000349143:p.Leu15Phe		87	0.0229885057	2		120	0.06	7	NM_181531	16	0	0	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	c	14.03	2.412871	0.42817	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000352867;ENST00000493275;ENST00000472507;ENST00000482536;ENST00000432533;ENST00000416795;ENST00000494184;ENST00000483410	T;T;T;T;T;T;D;T;T;T	0.90444	3.76;1.1;0.43;4.24;3.36;-0.21;-2.67;1.1;2.29;3.8	2.01	1.1	0.20463	.	0.656368	0.12607	N	0.454165	T	0.62085	0.2399	N	0.08118	0	0.21675	N	0.999591	B;B;B;B;B;B	0.24132	0.003;0.008;0.098;0.014;0.003;0.003	B;B;B;B;B;B	0.15052	0.002;0.003;0.012;0.006;0.002;0.002	T	0.57562	-0.7790	10	0.87932	D	0	.	4.8159	0.13367	0.0:0.8071:0.0:0.1929	.	15;15;15;15;15;15	E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;BT2A2_HUMAN	F	15	ENSP00000417472:L15F;ENSP00000349143:L15F;ENSP00000337117:L15F;ENSP00000418857:L15F;ENSP00000419226:L15F;ENSP00000419451:L15F;ENSP00000394241:L15F;ENSP00000399308:L15F;ENSP00000417511:L15F;ENSP00000418176:L15F	ENSP00000337117:L15F	L	+	1	0	BTN2A2	26492071	0.000000	0.05858	0.368000	0.25939	0.580000	0.36256	-0.390000	0.07332	0.383000	0.24910	0.298000	0.19748	CTC			0.587	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040117.1				T	26384092	C	T	26384092	3	4	99	1	0	0	0	0	1	0	0	0	1563	681	24	3	45	3	BTN2A2	6	26384092	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10		26384092	144730975	25	7465											
MOCS1	4337	mdanderson.org	37	chr6	39881102	39881102	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcgcacatccagggggAggccctcagtcaaggccgca	10	4	14	13	2	2	1	2	1	0	0	3	2	3	2	3	4	1	2	3	4	2	0	rs7762875	byFrequency	TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr6:39881102A>G	ENST00000340692.5	-	6	719	c.716T>C	c.(715-717)cTc>cCc	p.L239P	MOCS1_ENST00000373195.3_Missense_Mutation_p.L152P|MOCS1_ENST00000373188.2_Missense_Mutation_p.L239P|MOCS1_ENST00000425303.2_Missense_Mutation_p.L239P|MOCS1_ENST00000373175.4_Missense_Mutation_p.L210P|MOCS1_ENST00000432280.2_Missense_Mutation_p.L210P|MOCS1_ENST00000373186.4_Missense_Mutation_p.L239P|MOCS1_ENST00000308559.7_Missense_Mutation_p.L239P			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	239	Molybdenum cofactor biosynthesis protein A.			L -> H (in Ref. 2; AAB87523). {ECO:0000305}.	Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATCCAGGGGGAGGCCCTCAGT	0.582																																					p.L239P	NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												.	.			0			c.T716C												105	92	97					6																	39881102		2203	4300	6503	SO:0001583	missense	4337	exon6			AGGGGGAGGCCCT	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.716T>C	6.37:g.39881102A>G	ENSP00000344794:p.Leu239Pro		107	0.0093457944	1		93	0.05	5	NM_001075098	15	0	0	B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37		.	.	.	.	.	.	.	.	.	.	A	12.01	1.810691	0.32053	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	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	4.68	4.68	0.58851	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);	0.143616	0.47455	D	0.000232	T	0.28433	0.0703	L	0.48935	1.535	0.58432	D	0.999998	D;P;P;P;P	0.53312	0.959;0.823;0.932;0.886;0.713	P;P;B;P;P	0.49561	0.615;0.477;0.411;0.615;0.477	T	0.08066	-1.0740	9	.	.	.	-20.4487	8.3884	0.32514	0.6999:0.0:0.0:0.3001	.	239;239;239;239;239	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	P	239;239;210;239;152;239;239;210	ENSP00000362282:L239P;ENSP00000309843:L239P;ENSP00000362270:L210P;ENSP00000362284:L239P;ENSP00000362291:L152P;ENSP00000344794:L239P;ENSP00000416478:L239P;ENSP00000410809:L210P	.	L	-	2	0	MOCS1	39989080	1.000000	0.71417	0.977000	0.42913	0.097000	0.18754	4.363000	0.59473	1.760000	0.52011	0.533000	0.62120	CTC			0.582	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000040476.2		NM_005943		G	39881102	A	G	39881102	3	3	99	1	0	0	0	0	1	0	0	0	9706	304	11	4	461	4	MOCS1	6	39881102	Missense_Mutation	SNP	A	TCGA-VF-A8AC-01A-11D-A435-10	13497010	39881102	131233965	26	7466											
TTK	7272	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	80747723	80747723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaccagaagcaatcaaaGatatgtcttcctccagagag	14	8	8	11	0	2	3	1	0	1	3	4	4	4	3	4	0	2	1	4	0	4	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr6:80747723G>A	ENST00000369798.2	+	18	2200	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N	TTK_ENST00000509894.1_Missense_Mutation_p.D696N|TTK_ENST00000230510.3_Missense_Mutation_p.D696N	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	697	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.D681Y(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGCAATCAAAGATATGTCTTC	0.333																																					p.D697N													TTK,NS,NS,0,1	TTK	0	1	1	Substitution - Missense(1)	pancreas(1)	c.G2089A												59	58	58					6																	80747723		2203	4298	6501	SO:0001583	missense	7272	exon18			ATCAAAGATATGT		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.2089G>A	6.37:g.80747723G>A	ENSP00000358813:p.Asp697Asn		225	0.0088888889	2		218	0.09	19	NM_003318	230	0.29	66	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432389	0.62844	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.73363	-0.74;-0.74;-0.74	5.77	4.0	0.46444	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	0.62466	0.2430	N	0.11131	0.1	0.80722	D	1	D;D	0.65815	0.995;0.987	D;P	0.68039	0.955;0.908	T	0.71537	-0.4563	10	0.59425	D	0.04	.	11.8763	0.52550	0.141:0.0:0.859:0.0	.	697;696	P33981;A8K8U5	TTK_HUMAN;.	N	696;696;697	ENSP00000422936:D696N;ENSP00000230510:D696N;ENSP00000358813:D697N	ENSP00000230510:D696N	D	+	1	0	TTK	80804442	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.909000	0.92647	0.906000	0.36621	0.655000	0.94253	GAT			0.333	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041316.2				A	80747723	G	A	80747723	3	1	99	1	0	0	0	0	1	0	0	0	16744	942	33	3	2155	3	TTK	6	80747723	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	40866621	80747723	90367344	27	7467											
CUX1	1523	broad.mit.edu	37	chr7	101882800	101882800	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtcaccaaaaaccatcGaagacctcgccacccagctc	13	4	5	19	3	1	1	1	0	0	1	4	2	1	1	6	0	2	1	6	0	3	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr7:101882800G>T	ENST00000292535.7	+	23	3861	c.3823G>T	c.(3823-3825)Gaa>Taa	p.E1275*	CUX1_ENST00000550008.2_Nonsense_Mutation_p.E1219*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E1173*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E1117*|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000360264.3_Nonsense_Mutation_p.E1286*|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E1253*|CUX1_ENST00000425244.2_Intron|AC005088.1_ENST00000580604.1_RNA|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1275					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						AAAAACCATCGAAGACCTCGC	0.597																																					p.E1286X													.	CUX1	253		0			c.G3856T												129	127	128					7																	101882800		2203	4300	6503	SO:0001587	stop_gained	1523	exon23			ACCATCGAAGACC	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.3823G>T	7.37:g.101882800G>T	ENSP00000292535:p.Glu1275*		168	0	0		244	0.03	7	NM_001202543	21	0	0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	42	9.174002	0.99089	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.4455	18.3291	0.90262	0.0:0.0:1.0:0.0	.	.	.	.	X	1286;1275;1253;1219;1173;1117	.	ENSP00000292535:E1275X	E	+	1	0	CUX1	101669520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.749000	0.98871	2.324000	0.78689	0.655000	0.94253	GAA			0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000347535.1		NM_001913		T	101882800	G	T	101882800	4	4	99	1	0	0	0	0	0	1	0	0	4066	1059	37	1	3980	1	CUX1	7	101882800	Nonsense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		101882800	57255863	28	7468											
KLHDC10	23008	mdanderson.org	37	chr7	129710491	129710491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgttagcgggtcatgtcggCcgcccagggctgggacagga	6	7	17	11	4	1	0	1	0	0	0	3	2	1	2	2	5	1	2	2	5	1	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr7:129710491C>T	ENST00000335420.5	+	1	142	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	3						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GTCATGTCGGCCGCCCAgggc	0.756																																					p.A3V													.	.			0			c.C8T												3	4	4					7																	129710491		1624	3484	5108	SO:0001583	missense	23008	exon1			TGTCGGCCGCCCA		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"scruin like at the midline homolog (Drosophila)"	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.8C>T	7.37:g.129710491C>T	ENSP00000334140:p.Ala3Val		10	0	0		33	0.09	3	NM_014997	0		0	Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061436	0.93846	.	.	ENSG00000128607	ENST00000335420;ENST00000463413	T;T	0.31247	2.78;1.5	5.52	5.52	0.82312	.	0.237546	0.28322	N	0.015777	T	0.20007	0.0481	N	0.08118	0	0.31773	N	0.631874	P	0.41232	0.743	B	0.40534	0.332	T	0.15838	-1.0423	10	0.59425	D	0.04	-4.9525	14.9142	0.70781	0.0:1.0:0.0:0.0	.	3	Q6PID8	KLD10_HUMAN	V	3	ENSP00000334140:A3V;ENSP00000420083:A3V	ENSP00000334140:A3V	A	+	2	0	KLHDC10	129497727	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.424000	0.52764	2.579000	0.87056	0.591000	0.81541	GCC			0.756	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349347.2				T	129710491	C	T	129710491	3	4	99	1	0	0	0	0	1	0	0	0	8370	739	26	2	10	2	KLHDC10	7	129710491	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10	27827691	129710491	29428172	29	7469											
MTFR1	9650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	66605961	66605961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgatgttggatgggtagCcaaagaagaaggagagtgtt	12	10	16	3	0	0	4	0	1	0	3	0	6	0	5	1	3	2	4	1	3	4	3			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr8:66605961C>A	ENST00000262146.4	+	4	374	c.248C>A	c.(247-249)gCc>gAc	p.A83D	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.A50D	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	83					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GGATGGGTAGCCAAAGAAGAA	0.408																																					p.A83D													.	.			0			c.C248A												97	85	89					8																	66605961		2203	4300	6503	SO:0001583	missense	9650	exon4			GGGTAGCCAAAGA		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.248C>A	8.37:g.66605961C>A	ENSP00000262146:p.Ala83Asp		135	0	0		204	0.25	52	NM_014637	125	0.36	45	E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.58|16.58	3.163108|3.163108	0.57476|0.57476	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000262146;ENST00000458689|ENST00000518800	T;T|.	0.55052|.	0.54;0.54|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.046760|.	0.85682|.	D|.	0.000000|.	T|T	0.69441|0.69441	0.3111|0.3111	L|L	0.52573|0.52573	1.65|1.65	0.51233|0.51233	D|D	0.999915|0.999915	B;P;D|.	0.76494|.	0.211;0.837;0.999|.	B;P;D|.	0.79784|.	0.208;0.532;0.993|.	T|T	0.65319|0.65319	-0.6197|-0.6197	9|5	.|.	.|.	.|.	-3.5701|-3.5701	16.8389|16.8389	0.85963|0.85963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	83;50;83|.	B4E3G8;E7EP84;Q15390|.	.;.;MTFR1_HUMAN|.	D|T	83;50|41	ENSP00000262146:A83D;ENSP00000391502:A50D|.	.|.	A|P	+|+	2|1	0|0	MTFR1|MTFR1	66768515|66768515	0.994000|0.994000	0.37717|0.37717	0.994000|0.994000	0.49952|0.49952	0.260000|0.260000	0.26232|0.26232	4.100000|4.100000	0.57762|0.57762	2.747000|2.747000	0.94245|0.94245	0.585000|0.585000	0.79938|0.79938	GCC|CCA			0.408	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378894.1		NM_014637		A	66605961	C	A	66605961	3	1	99	1	0	0	0	0	1	0	0	0	9941	739	26	2	258	2	MTFR1	8	66605961	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10		66605961	79758061	30	7470											
ESRP1	54845	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	95655639	95655639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcatcctgaggcttccAagaaggtaagagtgctggct	9	10	12	10	0	0	3	0	1	0	2	3	3	3	3	3	3	2	5	3	3	3	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr8:95655639A>G	ENST00000433389.2	+	3	560	c.370A>G	c.(370-372)Aag>Gag	p.K124E	ESRP1_ENST00000358397.5_Missense_Mutation_p.K124E|ESRP1_ENST00000423620.2_Missense_Mutation_p.K124E|ESRP1_ENST00000454170.2_Missense_Mutation_p.K124E	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	124					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						TGAGGCTTCCAAGAAGGTAAG	0.433																																					p.K124E													.	ESRP1	148		0			c.A370G												69	66	67					8																	95655639		1870	4103	5973	SO:0001583	missense	54845	exon3			GCTTCCAAGAAGG	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.370A>G	8.37:g.95655639A>G	ENSP00000405738:p.Lys124Glu		56	0	0		74	0.08	6	NM_001122827	28	0.21	6	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156745	0.78114	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.89	5.89	0.94794	Ribonuclease H-like (1);	0.084182	0.85682	D	0.000000	T	0.50548	0.1622	L	0.50333	1.59	0.50467	D	0.999877	P;P;P;P;P	0.45902	0.855;0.696;0.791;0.868;0.82	P;B;B;P;P	0.50405	0.64;0.356;0.297;0.492;0.496	T	0.48864	-0.8997	10	0.51188	T	0.08	-18.9006	16.3158	0.82923	1.0:0.0:0.0:0.0	.	124;124;124;124;124	Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;ESRP1_HUMAN	E	124	ENSP00000407349:K124E;ENSP00000405738:K124E;ENSP00000351168:K124E;ENSP00000402766:K124E	ENSP00000351168:K124E	K	+	1	0	ESRP1	95724815	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.152000	0.89638	2.254000	0.74563	0.533000	0.62120	AAG			0.433	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379326.1		NM_017697		G	95655639	A	G	95655639	3	3	99	1	0	0	0	0	1	0	0	0	5265	131	5	4	380	4	ESRP1	8	95655639	Missense_Mutation	SNP	A	TCGA-VF-A8AC-01A-11D-A435-10	29049678	95655639	50708383	31	7471											
GDF6	392255	broad.mit.edu	37	chr8	97157410	97157411	+	Frame_Shift_Del	DEL	CG	CG	-																															gcggcggttgctggggtcccCgcgcgcgcgcctcggcctcc																										TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	CG	CG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr8:97157410_97157411delCG	ENST00000287020.5	-	2	847_848	c.748_749delCG	c.(748-750)cggfs	p.R250fs		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	250					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)					CTGGGGTCCCCGCGCGCGCGCC	0.757																																					p.250_250del													.	GDF6	57		0			c.748_749del									3,1577		1,1,788						0.6	0			2	16,3758		3,10,1874	no	frameshift	GDF6	NM_001001557.2		4,11,2662	A1A1,A1R,RR		0.424,0.1899,0.3549				19,5335				SO:0001589	frameshift_variant	392255	exon2			GGTCCCCGCGCGC		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.748_749delCG	8.37:g.97157418_97157419delCG	ENSP00000287020:p.Arg250fs		8	0	0		6	0.5	3	NM_001001557	0		0	Q6PI58	Frame_Shift_Del	DEL	ENST00000287020.5	37	CCDS34926.1																																																																																					0.757	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379862.2		NM_001001557		-	97157411	CG	-	97157410	7	5	99	1	0	1	0	1	0	0	0	0	6331	652	23	0	622	0	GDF6	8	97157410	Frame_Shift_Del	DEL	CG	TCGA-VF-A8AC-01A-11D-A435-10	1501771	97157410	49206612	32	7472											
KCNS2	3788	mdanderson.org	37	chr8	99441319	99441319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggtgggctaccgtcaGtatgaccacagtggggtacg	7	9	16	9	2	1	1	1	1	0	0	1	1	1	1	2	5	2	3	2	5	3	3			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr8:99441319G>T	ENST00000287042.4	+	2	1462	c.1112G>T	c.(1111-1113)aGt>aTt	p.S371I	KCNS2_ENST00000521839.1_Missense_Mutation_p.S371I	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	371					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)			GCTACCGTCAGTATGACCACA	0.612																																					p.S371I	Pancreas(138;844 2489 9202 24627)												.	.			0			c.G1112T												85	79	81					8																	99441319		2203	4300	6503	SO:0001583	missense	3788	exon2			CCGTCAGTATGAC	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.1112G>T	8.37:g.99441319G>T	ENSP00000287042:p.Ser371Ile		63	0	0		89	0.04	4	NM_020697	0		0	A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129493	0.77549	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97598	-4.45;-4.45	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	M	0.92738	3.34	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99150	1.0858	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	371	Q9ULS6	KCNS2_HUMAN	I	371	ENSP00000287042:S371I;ENSP00000430712:S371I	ENSP00000287042:S371I	S	+	2	0	KCNS2	99510495	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	AGT			0.612	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103134.1		NM_020697		T	99441319	G	T	99441319	3	4	99	1	0	0	0	0	1	0	0	0	8104	1029	36	3	1114	3	KCNS2	8	99441319	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	2283909	99441319	46922703	33	7473											
SHB	6461	mdanderson.org	37	chr9	38068265	38068265	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacgaggccgagaaggcGcgctggaccccgcctggctc	6	3	17	15	6	0	1	0	0	0	1	1	5	0	3	4	5	0	2	4	5	1	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr9:38068265G>T	ENST00000377707.3	-	1	943	c.378C>A	c.(376-378)cgC>cgA	p.R126R	RP11-613M10.9_ENST00000540557.1_Silent_p.R126R|SHB_ENST00000377700.4_Silent_p.R126R	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	126	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)		CCGAGAAGGCGCGCTGGACCC	0.766																																					p.R126R													.	.			0			c.C378A												2	2	2					9																	38068265		1171	2841	4012	SO:0001819	synonymous_variant	6461	exon1			GAAGGCGCGCTGG		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.378C>A	9.37:g.38068265G>T			12	0	0		18	0.11	2	NM_003028	1	0	0	B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Silent	SNP	ENST00000377707.3	37	CCDS43806.1																																																																																					0.766	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052490.1				T	38068265	G	T	38068265	2	4	99	1	0	0	0	0	0	0	0	1	14291	1074	38	1		1	SHB	9	38068265	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		38068265	103145166	34	7474											
TMC1	117531	broad.mit.edu	37	chr9	75420368	75420368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcattggggactttctaaGggcatgttttgtgaggtttt	6	17	12	6	0	2	1	1	1	1	0	2	2	2	2	1	4	0	3	1	4	1	7			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr9:75420368G>T	ENST00000297784.5	+	18	2177	c.1637G>T	c.(1636-1638)aGg>aTg	p.R546M	TMC1_ENST00000340019.3_Missense_Mutation_p.R546M|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.R546M	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	546					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						GACTTTCTAAGGGCATGTTTT	0.363																																					p.R546M	Pancreas(75;173 1345 14232 34245 43413)												.	TMC1	87		0			c.G1637T												272	265	267					9																	75420368		2203	4300	6503	SO:0001583	missense	117531	exon18			TTCTAAGGGCATG	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.1637G>T	9.37:g.75420368G>T	ENSP00000297784:p.Arg546Met		134	0	0		146	0.03	5	NM_138691	4	0	0	A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921709	0.73213	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.70164	-0.46;-0.46;-0.46	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	M	0.89287	3.02	0.31064	N	0.713748	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.986;0.986;0.992	D	0.84882	0.0831	10	0.87932	D	0	-20.6799	10.6389	0.45582	0.1416:0.0:0.8584:0.0	.	513;513;546	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	M	546;546;513;513;513;540;546	ENSP00000297784:R546M;ENSP00000341433:R546M;ENSP00000379538:R546M	ENSP00000297784:R546M	R	+	2	0	TMC1	74610188	0.998000	0.40836	0.841000	0.33234	0.874000	0.50279	6.355000	0.73041	2.809000	0.96659	0.467000	0.42956	AGG			0.363	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052655.1				T	75420368	G	T	75420368	3	4	99	1	0	0	0	0	1	0	0	0	16007	1000	35	3	1691	3	TMC1	9	75420368	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	37352103	75420368	65793063	35	7475											
SYK	6850	broad.mit.edu	37	chr9	93637110	93637110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattttggaactgtgaaaaAgggctactaccaaatgaaaa	18	10	8	5	0	0	2	0	2	0	0	0	3	0	3	1	2	3	1	1	2	9	5			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr9:93637110A>G	ENST00000375754.4	+	9	1308	c.1160A>G	c.(1159-1161)aAg>aGg	p.K387R	SYK_ENST00000375751.4_Missense_Mutation_p.K364R|SYK_ENST00000375747.1_Missense_Mutation_p.K364R|SYK_ENST00000375746.1_Missense_Mutation_p.K387R	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	387	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						ACTGTGAAAAAGGGCTACTAC	0.473			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																p.K387R				Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	SYK,rectum,carcinoma,-1,1	SYK	132	1	0			c.A1160G												104	111	109					9																	93637110		2203	4300	6503	SO:0001583	missense	6850	exon9			TGAAAAAGGGCTA	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.1160A>G	9.37:g.93637110A>G	ENSP00000364907:p.Lys387Arg		96	0.0104166667	1		103	0.04	4	NM_003177	14	0	0		Missense_Mutation	SNP	ENST00000375754.4	37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727334	0.30593	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.29	3.16	0.36331	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.181985	0.47455	D	0.000235	T	0.41073	0.1143	N	0.12961	0.28	0.49389	D	0.999789	B;B	0.19073	0.005;0.033	B;B	0.24394	0.02;0.053	T	0.21449	-1.0245	10	0.17832	T	0.49	.	10.1865	0.43000	0.9166:0.0:0.0834:0.0	.	364;387	P43405-2;P43405	.;KSYK_HUMAN	R	387;364;364;387	ENSP00000364907:K387R;ENSP00000364904:K364R;ENSP00000364899:K364R;ENSP00000364898:K387R	ENSP00000364898:K387R	K	+	2	0	SYK	92676931	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.598000	0.61069	1.934000	0.56057	0.533000	0.62120	AAG			0.473	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000053018.1				G	93637110	A	G	93637110	3	3	99	1	0	0	0	0	1	0	0	0	15461	72	3	4	1190	4	SYK	9	93637110	Missense_Mutation	SNP	A	TCGA-VF-A8AC-01A-11D-A435-10	18216742	93637110	47576321	36	7476											
LAMC3	10319	mdanderson.org	37	chr9	133884953	133884953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgcagtaccccacctcgGtcaacatcaccctccgccta	8	7	7	19	3	2	0	2	0	0	0	4	0	3	0	6	1	3	2	6	1	3	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr9:133884953G>T	ENST00000361069.4	+	1	485	c.352G>T	c.(352-354)Gtc>Ttc	p.V118F	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	118	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)		CCCCACCTCGGTCAACATCAC	0.682																																					p.V118F													.	.			0			c.G352T												15	10	12					9																	133884953		2156	4253	6409	SO:0001583	missense	10319	exon1			ACCTCGGTCAACA	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.352G>T	9.37:g.133884953G>T	ENSP00000354360:p.Val118Phe		66	0	0		47	0.09	4	NM_006059	7	0	0	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734754	0.69189	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.81078	-1.45	3.64	3.64	0.41730	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91314	0.7261	H	0.95950	3.745	0.53005	D	0.999963	D	0.76494	0.999	D	0.72075	0.976	D	0.91805	0.5455	10	0.87932	D	0	.	8.4018	0.32590	0.1122:0.0:0.8877:0.0	.	118	Q9Y6N6	LAMC3_HUMAN	F	118	ENSP00000354360:V118F	ENSP00000325873:V118F	V	+	1	0	LAMC3	132874774	0.997000	0.39634	0.999000	0.59377	0.547000	0.35210	2.554000	0.45845	1.551000	0.49450	0.313000	0.20887	GTC			0.682	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054717.3		NM_006059		T	133884953	G	T	133884953	3	4	99	1	0	0	0	0	1	0	0	0	8631	1261	44	3	354	3	LAMC3	9	133884953	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	40247843	133884953	7328478	37	7477											
EPC1	80314	broad.mit.edu	37	chr10	32575641	32575641	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaccgcgcccaacccGtcttcgtgcaaatccaatac	9	8	5	19	4	1	0	0	0	1	0	4	0	3	0	6	0	3	1	6	0	4	3	rs143299306		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr10:32575641G>T	ENST00000263062.8	-	9	1641	c.1372C>A	c.(1372-1374)Cgg>Agg	p.R458R	EPC1_ENST00000319778.6_Silent_p.R458R|EPC1_ENST00000375110.2_Silent_p.R408R	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	458					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|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 growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CGCCCAACCCGTCTTCGTGCA	0.433																																					p.R458R													.	EPC1	74		0			c.C1372A												103	89	94					10																	32575641		2203	4300	6503	SO:0001819	synonymous_variant	80314	exon9			CAACCCGTCTTCG	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1372C>A	10.37:g.32575641G>T			121	0.0082644628	1		120	0.03	4	NM_001272004	28	0	0	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Silent	SNP	ENST00000263062.8	37	CCDS7172.1																																																																																					0.433	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000047484.1				T	32575641	G	T	32575641	2	4	99	1	0	0	0	0	0	0	0	1	5167	1144	40	1		1	EPC1	10	32575641	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		32575641	102959106	38	7478											
CCAR1	55749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70525822	70525822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagattagaggataataaaGaacattcatttgaggtaatg	18	11	9	3	0	1	4	1	1	0	3	1	5	1	5	0	2	1	1	0	2	6	6			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr10:70525822G>C	ENST00000265872.6	+	17	2403	c.2284G>C	c.(2284-2286)Gaa>Caa	p.E762Q	CCAR1_ENST00000543719.1_Missense_Mutation_p.E747Q|CCAR1_ENST00000535016.1_Missense_Mutation_p.E747Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	762	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.E762Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GGATAATAAAGAACATTCATT	0.323																																					p.E762Q													CCAR1,NS,carcinoma,0,1	CCAR1	0	1	1	Substitution - Missense(1)	lung(1)	c.G2284C												83	80	81					10																	70525822		2203	4300	6503	SO:0001583	missense	55749	exon17			AATAAAGAACATT	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2284G>C	10.37:g.70525822G>C	ENSP00000265872:p.Glu762Gln		89	0	0		86	0.08	7	NM_018237	128	0.29	37	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.75|19.75	3.885635|3.885635	0.72410|0.72410	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012|ENST00000543706	T;T;T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.15;2.15;2.15|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81678|0.81678	0.4873|0.4873	M|M	0.81682|0.81682	2.555|2.555	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	0.989;0.993;1.0|.	D;D;D|.	0.87578|.	0.979;0.979;0.998|.	T|T	0.82321|0.82321	-0.0515|-0.0515	10|5	0.54805|.	T|.	0.06|.	-21.4383|-21.4383	19.181|19.181	0.93623|0.93623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	747;762;736|.	Q8IX12-2;Q8IX12;F5H2E6|.	.;CCAR1_HUMAN;.|.	Q|T	762;747;747;747;736;567|131	ENSP00000265872:E762Q;ENSP00000441820:E747Q;ENSP00000445254:E747Q;ENSP00000439252:E747Q;ENSP00000438610:E736Q;ENSP00000439642:E567Q|.	ENSP00000265872:E762Q|.	E|R	+|+	1|2	0|0	CCAR1|CCAR1	70195828|70195828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.668000|9.668000	0.98619|0.98619	2.531000|2.531000	0.85337|0.85337	0.561000|0.561000	0.74099|0.74099	GAA|AGA			0.323	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048356.2		NM_018237		C	70525822	G	C	70525822	3	2	99	1	0	0	0	0	1	0	0	0	2732	943	33	5	2346	5	CCAR1	10	70525822	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	37950181	70525822	65008925	39	7479											
KRTAP5-5	439915	mdanderson.org	37	chr11	1651203	1651203	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctccggctgtggaggcTgtgggggctgtggctccggc	1	9	21	10	2	0	0	0	0	0	0	2	1	2	1	2	8	0	5	2	8	0	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr11:1651203T>C	ENST00000399676.2	+	1	171	c.133T>C	c.(133-135)Tgt>Cgt	p.C45R		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	45						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)		ctgtggaggctgtgggggctg	0.711																																					p.C45R													.	.			0			c.T133C												13	21	19					11																	1651203		1930	3898	5828	SO:0001583	missense	439915	exon1			GGAGGCTGTGGGG	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.133T>C	11.37:g.1651203T>C	ENSP00000382584:p.Cys45Arg		50	0	0		51	0.12	6	NM_001001480	0		0	A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	T	4.119	0.020218	0.08006	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01287	5.05	2.61	2.61	0.31194	.	.	.	.	.	T	0.02380	0.0073	M	0.72118	2.19	0.20074	N	0.999931	B	0.15141	0.012	B	0.17722	0.019	T	0.38286	-0.9668	9	0.25751	T	0.34	.	8.6776	0.34189	0.0:0.0:0.0:1.0	.	45	Q701N2	KRA55_HUMAN	R	45;43	ENSP00000382584:C45R	ENSP00000382584:C45R	C	+	1	0	KRTAP5-5	1607779	0.074000	0.21230	0.879000	0.34478	0.185000	0.23345	0.401000	0.20948	0.943000	0.37553	0.317000	0.21355	TGT			0.711	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127919.1				C	1651203	T	C	1651203	3	2	99	1	0	0	0	0	1	0	0	0	8579	1580	55	4	135	4	KRTAP5-5	11	1651203	Missense_Mutation	SNP	T	TCGA-VF-A8AC-01A-11D-A435-10		1651203	133355313	40	7480											
DEPDC7	91614	broad.mit.edu	37	chr11	33047234	33047234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcagaagccatttggaGccacgtatgtatggagcagc	11	9	12	9	1	1	1	1	0	0	1	1	3	1	3	2	2	5	4	2	2	4	4			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr11:33047234G>T	ENST00000241051.3	+	2	195	c.103G>T	c.(103-105)Gcc>Tcc	p.A35S	DEPDC7_ENST00000311388.3_Missense_Mutation_p.A26S	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	35					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						GCCATTTGGAGCCACGTATGT	0.393																																					p.A35S													.	DEPDC7	94		0			c.G103T												112	104	106					11																	33047234		1914	4131	6045	SO:0001583	missense	91614	exon2			TTTGGAGCCACGT		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.103G>T	11.37:g.33047234G>T	ENSP00000241051:p.Ala35Ser		184	0	0		182	0.03	5	NM_001077242	30	0	0	G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334345	0.95758	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.30714	1.56;1.52	6.04	6.04	0.98038	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.70275	2.135	0.80722	D	1	D;P;D;D	0.76494	0.99;0.849;0.98;0.999	D;B;P;D	0.80764	0.958;0.223;0.778;0.994	T	0.55786	-0.8086	10	0.59425	D	0.04	-7.0445	20.5792	0.99380	0.0:0.0:1.0:0.0	.	35;35;26;35	B4DJ78;B4DH51;G5E941;Q96QD5	.;.;.;DEPD7_HUMAN	S	35;26	ENSP00000241051:A35S;ENSP00000308971:A26S	ENSP00000241051:A35S	A	+	1	0	DEPDC7	33003810	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.873000	0.98535	0.561000	0.74099	GCC			0.393	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388655.1		NM_139160		T	33047234	G	T	33047234	3	4	99	1	0	0	0	0	1	0	0	0	4449	971	34	2	159	2	DEPDC7	11	33047234	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	31396031	33047234	101959282	41	7481											
SLC35C1	55343	mdanderson.org	37	chr11	45827629	45827629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgcaaaggcctcagcGctctggccgcctgctgccct	4	9	12	16	2	2	0	1	0	1	0	2	0	2	0	4	2	5	4	4	2	1	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr11:45827629G>T	ENST00000314134.3	+	1	1673	c.277G>T	c.(277-279)Gct>Tct	p.A93S	SLC35C1_ENST00000442528.2_Missense_Mutation_p.A80S|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A80S	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	93					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		AGGCCTCAGCGCTCTGGCCGC	0.667																																					p.A93S													.	.			0			c.G277T												72	62	65					11																	45827629		2203	4299	6502	SO:0001583	missense	55343	exon1			CTCAGCGCTCTGG		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.277G>T	11.37:g.45827629G>T	ENSP00000313318:p.Ala93Ser		36	0	0		52	0.06	3	NM_018389	13	0	0	B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347528	0.24426	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000314134;ENST00000530471;ENST00000540685	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.45	-8.9	0.00782	Drug/metabolite transporter (1);	0.700955	0.13944	N	0.351962	T	0.20495	0.0493	N	0.04724	-0.175	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11966	-1.0566	10	0.22109	T	0.4	0.0102	7.6213	0.28187	0.687:0.1256:0.1139:0.0735	.	93	Q96A29	FUCT1_HUMAN	S	80;80;93;80;93	ENSP00000412408:A80S;ENSP00000399779:A80S;ENSP00000313318:A93S;ENSP00000432669:A80S	ENSP00000313318:A93S	A	+	1	0	SLC35C1	45784205	0.020000	0.18652	0.002000	0.10522	0.578000	0.36192	-0.343000	0.07791	-2.193000	0.00754	-1.031000	0.02408	GCT			0.667	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390139.1		NM_018389		T	45827629	G	T	45827629	3	4	99	1	0	0	0	0	1	0	0	0	14602	1087	38	1	279	1	SLC35C1	11	45827629	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	12780395	45827629	89178887	42	7482											
C11orf82	220042	hgsc.bcm.edu;mdanderson.org	37	chr11	82639955	82639955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttagatacattttttGgtcttactgccactggtttg	6	19	9	7	0	1	1	0	0	1	1	1	1	1	1	1	2	4	3	1	2	3	8			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr11:82639955G>T	ENST00000533655.1	+	4	462	c.250G>T	c.(250-252)Ggt>Tgt	p.G84C	C11orf82_ENST00000525388.1_Missense_Mutation_p.G84C|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000525361.1_Missense_Mutation_p.G84C|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.G84C|C11orf82_ENST00000524921.1_Missense_Mutation_p.G84C	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		84					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TACATTTTTTGGTCTTACTGC	0.328																																					p.G84C													.	.			0			c.G250T												120	119	120					11																	82639955		2203	4300	6503	SO:0001583	missense	220042	exon4			TTTTTTGGTCTTA																												ENST00000533655.1:c.250G>T	11.37:g.82639955G>T	ENSP00000435421:p.Gly84Cys		81	0	0		82	0.05	4	NM_145018	13	0	0	Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578058	0.86645	.	.	ENSG00000165490	ENST00000524921;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000525388;ENST00000528262	T;T	0.70045	-0.45;-0.45	5.75	5.75	0.90469	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.83580	0.5285	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83410	0.0027	9	.	.	.	-20.5449	19.9399	0.97155	0.0:0.0:1.0:0.0	.	84;84	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	C	84;84;84;84;145;84;84	ENSP00000414687:G84C;ENSP00000435421:G84C	.	G	+	1	0	C11orf82	82317603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.119000	0.77145	2.701000	0.92244	0.557000	0.71058	GGT			0.328	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391936.1				T	82639955	G	T	82639955	3	4	99	1	0	0	0	0	1	0	0	0	1667	1348	47	3	256	3	C11orf82	11	82639955	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	36812326	82639955	52366561	43	7483											
PGR	5241	mdanderson.org	37	chr11	100998763	100998763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccggggtggacgaggcacAgggtgaactccgcggcgggg	7	3	21	10	5	0	1	0	1	0	0	1	4	1	2	2	8	1	1	2	8	1	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr11:100998763A>G	ENST00000325455.5	-	1	2492	c.1039T>C	c.(1039-1041)Tgt>Cgt	p.C347R	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.C347R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	347	Modulating, Pro-Rich.		C -> S (in dbSNP:rs11571147).		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)	GACGAGGCACAGGGTGAACTC	0.687																																					p.C347R	Pancreas(124;2271 2354 21954 22882)												.	.			0			c.T1039C												16	21	19					11																	100998763		2097	4168	6265	SO:0001583	missense	5241	exon1			AGGCACAGGGTGA	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.1039T>C	11.37:g.100998763A>G	ENSP00000325120:p.Cys347Arg		25	0	0		30	0.13	4	NM_000926	0		0	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	A	4.790	0.146822	0.09134	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.05996	3.36;3.36	3.84	1.42	0.22433	.	0.814196	0.09945	N	0.735394	T	0.03477	0.0100	N	0.08118	0	0.26185	N	0.979669	B;B	0.20780	0.0;0.048	B;B	0.21917	0.0;0.037	T	0.41787	-0.9489	10	0.59425	D	0.04	.	4.5042	0.11879	0.5994:0.1874:0.2131:0.0	.	347;347	Q8TDS3;P06401	.;PRGR_HUMAN	R	347	ENSP00000325120:C347R;ENSP00000263463:C347R	ENSP00000263463:C347R	C	-	1	0	PGR	100503973	0.986000	0.35501	0.797000	0.32132	0.023000	0.10783	0.575000	0.23729	0.548000	0.28955	0.459000	0.35465	TGT			0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394934.1				G	100998763	A	G	100998763	3	3	99	1	0	0	0	0	1	0	0	0	11822	188	7	4	1794	4	PGR	11	100998763	Missense_Mutation	SNP	A	TCGA-VF-A8AC-01A-11D-A435-10	18358808	100998763	34007753	44	7484											
DDX10	1662	broad.mit.edu	37	chr11	108712092	108712092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgccatcaaggatgctgaGgaagatgatgacacaggtgg	12	8	14	7	0	2	4	1	3	1	1	2	6	2	6	1	4	2	1	1	4	2	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr11:108712092G>T	ENST00000322536.3	+	15	2265	c.2136G>T	c.(2134-2136)gaG>gaT	p.E712D	DDX10_ENST00000526794.1_Missense_Mutation_p.E712D	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	712					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGGATGCTGAGGAAGATGATG	0.403			T	NUP98	AML*																																p.E712D				Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	.	DDX10	70		0			c.G2136T												93	90	91					11																	108712092		2201	4298	6499	SO:0001583	missense	1662	exon15			TGCTGAGGAAGAT	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2136G>T	11.37:g.108712092G>T	ENSP00000314348:p.Glu712Asp		227	0	0		239	0.03	6	NM_004398	78	0	0	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	5.805	0.332891	0.11013	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.45668	0.89;0.9	4.84	3.86	0.44501	.	0.278792	0.28192	N	0.016245	T	0.31358	0.0794	L	0.52126	1.63	0.34510	D	0.707012	B;B	0.14012	0.009;0.005	B;B	0.14578	0.011;0.007	T	0.26849	-1.0091	10	0.12430	T	0.62	-18.1854	8.035	0.30486	0.0:0.2788:0.5603:0.1609	.	712;712	Q13206;E9PIF2	DDX10_HUMAN;.	D	712;618;712	ENSP00000314348:E712D;ENSP00000432032:E712D	ENSP00000314348:E712D	E	+	3	2	DDX10	108217302	0.964000	0.33143	0.966000	0.40874	0.062000	0.15995	-0.059000	0.11731	2.398000	0.81561	0.650000	0.86243	GAG			0.403	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390343.1		NM_004398		T	108712092	G	T	108712092	3	4	99	1	0	0	0	0	1	0	0	0	4344	991	35	3	2194	3	DDX10	11	108712092	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	7713329	108712092	26294424	45	7485											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12R	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,NS,adenocarcinoma,+1,25136	KRAS_ENST00000256078	1	25136	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	c.G34C	GRCh37	CM076251	KRAS	M	rs121913530							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	exon2	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	CGCCACCAGCTCC	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.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg		210	0	0		336	0.36	122	NM_004985	22	0.59	13	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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		G	25398285	C	G	25398285	3	3	99	1	0	0	0	0	1	0	0	0	8453	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10		25398285	108453610	46	7486											
TIMELESS	8914	broad.mit.edu	37	chr12	56827600	56827600	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctggtggtgctgggTgaggatgggcagaaggtcgc	5	10	19	7	1	0	2	0	1	0	1	2	3	1	3	1	6	1	2	1	6	1	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr12:56827600T>G	ENST00000553532.1	-	3	358	c.208A>C	c.(208-210)Acc>Ccc	p.T70P	TIMELESS_ENST00000554616.1_Missense_Mutation_p.T70P|TIMELESS_ENST00000229201.4_Missense_Mutation_p.T70P					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGGTGCTGGGTGAGGATGGGC	0.547																																					p.T70P													.	TIMELESS	107		0			c.A208C												121	121	121					12																	56827600		2203	4300	6503	SO:0001583	missense	8914	exon3			GCTGGGTGAGGAT	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.208A>C	12.37:g.56827600T>G	ENSP00000450607:p.Thr70Pro		62	0.1935483871	12		78	0.28	22	NM_003920	39	0.03	1		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.868487	0.51588	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.67523	-0.24;-0.24;-0.27	5.31	4.17	0.49024	Timeless protein (1);	0.238103	0.42420	D	0.000713	T	0.50120	0.1597	N	0.24115	0.695	0.35185	D	0.772867	P;P	0.43477	0.771;0.808	B;B	0.41571	0.246;0.36	T	0.57808	-0.7747	10	0.31617	T	0.26	-5.6698	8.2465	0.31691	0.0:0.1631:0.0:0.8369	.	70;70	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	P	70	ENSP00000229201:T70P;ENSP00000450607:T70P;ENSP00000450848:T70P	ENSP00000229201:T70P	T	-	1	0	TIMELESS	55113867	0.210000	0.23517	0.988000	0.46212	0.995000	0.86356	0.985000	0.29578	0.980000	0.38523	0.528000	0.53228	ACC			0.547	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000409771.1		NM_003920		G	56827600	T	G	56827600	3	3	99	1	0	0	0	0	1	0	0	0	15927	1696	59	4	3526	4	TIMELESS	12	56827600	Missense_Mutation	SNP	T	TCGA-VF-A8AC-01A-11D-A435-10	31429315	56827600	77024295	47	7487											
NDUFA4L2	56901	mdanderson.org	37	chr12	57629360	57629360	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttagaagtctggccGgtccttcttcagcttcttat	5	15	9	12	1	4	1	1	0	3	1	5	1	5	1	3	3	1	2	3	3	3	5	rs139105980		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr12:57629360G>T	ENST00000554503.1	-	4	502	c.250C>A	c.(250-252)Cgg>Agg	p.R84R	NDUFA4L2_ENST00000393825.1_Silent_p.R84R|NDUFA4L2_ENST00000556732.1_3'UTR			Q9NRX3	NUA4L_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2	84										lung(1)|prostate(1)	2						AAGTCTGGCCGGTCCTTCTTC	0.582																																					p.R84R													.	.			0			c.C250A												78	88	85					12																	57629360		2203	4300	6503	SO:0001819	synonymous_variant	56901	exon5			CTGGCCGGTCCTT	BC011910	CCDS8935.1	12q13.3	2014-05-29			ENSG00000185633	ENSG00000185633			29836	protein-coding gene	gene with protein product							Standard	NM_020142		Approved	NUOMS, FLJ26118	uc001sno.3	Q9NRX3	OTTHUMG00000171275	ENST00000554503.1:c.250C>A	12.37:g.57629360G>T			48	0	0		55	0.05	3	NM_020142	25	0	0	Q6IAH9	Silent	SNP	ENST00000554503.1	37	CCDS8935.1																																																																																					0.582	NDUFA4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412744.1		NM_020142		T	57629360	G	T	57629360	2	4	99	1	0	0	0	0	0	0	0	1	10284	1115	39	1		1	NDUFA4L2	12	57629360	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	801760	57629360	76222535	48	7488											
ACAD10	80724	mdanderson.org	37	chr12	112182447	112182447	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttctttgattctgcttagGgcaagcaagctccacatatg	9	15	8	9	0	2	1	0	1	2	0	3	1	3	1	1	1	3	4	1	1	4	6			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr12:112182447G>T	ENST00000313698.4	+	13	1870	c.1715G>T	c.(1714-1716)gGg>gTg	p.G572V	ACAD10_ENST00000455480.2_Splice_Site_p.G603V|ACAD10_ENST00000549590.1_Splice_Site_p.G572V|ACAD10_ENST00000392636.2_Splice_Site_p.G174V|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	572						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						TTCTGCTTAGGGCAAGCAAGC	0.463																																					p.G603V													.	.			0			c.G1808T												85	87	86					12																	112182447		2203	4300	6503	SO:0001630	splice_region_variant	80724	exon14			GCTTAGGGCAAGC	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.1715-1G>T	12.37:g.112182447G>T			29	0	0		47	0.06	3	NM_001136538	20	0	0	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676974	0.68042	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000507683	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.65	4.76	0.60689	.	0.052084	0.85682	D	0.000000	T	0.66742	0.2820	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.981	T	0.77584	-0.2533	10	0.87932	D	0	.	13.6618	0.62372	0.0762:0.0:0.9238:0.0	.	603;572;572	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	V	174;572;572;603;572;153	ENSP00000376411:G174V;ENSP00000446959:G572V;ENSP00000389813:G603V;ENSP00000325137:G572V	ENSP00000325137:G572V	G	+	2	0	ACAD10	110666830	1.000000	0.71417	0.954000	0.39281	0.603000	0.37013	4.761000	0.62243	1.389000	0.46526	0.655000	0.94253	GGG			0.463	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368307.1		NM_025247	Missense_Mutation	T	112182447	G	T	112182447	5	4	99	1	0	0	0	0	0	0	1	0	108	1246	43	3	1858	3	ACAD10	12	112182447	Splice_Site	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	54553087	112182447	21669448	49	7489											
RASAL1	8437	mdanderson.org	37	chr12	113565955	113565955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtactcctccccccagaaggGgcccaggctcctccagacag	8	5	10	18	0	0	2	0	0	0	2	4	2	4	2	7	3	1	2	7	3	2	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr12:113565955G>T	ENST00000261729.5	-	4	466	c.151C>A	c.(151-153)Ccc>Acc	p.P51T	RASAL1_ENST00000546530.1_Missense_Mutation_p.P51T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.P51T|RASAL1_ENST00000446861.3_Missense_Mutation_p.P51T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	51	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|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						CCCCAGAAGGGGCCCAGGCTC	0.627																																					p.P51T													.	.			0			c.C151A												154	156	155					12																	113565955		2203	4300	6503	SO:0001583	missense	8437	exon4			AGAAGGGGCCCAG	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.151C>A	12.37:g.113565955G>T	ENSP00000261729:p.Pro51Thr		35	0	0		43	0.07	3	NM_001193520	1	0	0	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722563	0.89298	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.12	5.12	0.69794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	H	0.99404	4.55	0.50467	D	0.999873	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	0.99761	1.1021	10	0.87932	D	0	.	17.315	0.87221	0.0:0.0:1.0:0.0	.	51;51;51;63;51;51;51	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	T	51	ENSP00000450244:P51T;ENSP00000261729:P51T;ENSP00000395920:P51T;ENSP00000448510:P51T	ENSP00000261729:P51T	P	-	1	0	RASAL1	112050338	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.924000	0.92827	2.394000	0.81467	0.491000	0.48974	CCC			0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405522.2		NM_004658		T	113565955	G	T	113565955	3	4	99	1	0	0	0	0	1	0	0	0	13086	1232	43	3	2339	3	RASAL1	12	113565955	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	1383508	113565955	20285940	50	7490											
NCOR2	9612	mdanderson.org	37	chr12	124831293	124831293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcttgtaggcctcggtcagGtcccgtgagggcggtggggg	3	9	20	9	3	2	1	1	1	1	0	4	1	3	1	2	7	0	1	2	7	1	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr12:124831293G>T	ENST00000405201.1	-	31	4176	c.4176C>A	c.(4174-4176)gaC>gaA	p.D1392E	NCOR2_ENST00000356219.3_Missense_Mutation_p.D1399E|NCOR2_ENST00000404121.2_Missense_Mutation_p.D953E|NCOR2_ENST00000429285.2_Missense_Mutation_p.D1382E|NCOR2_ENST00000397355.1_Missense_Mutation_p.D1383E|NCOR2_ENST00000404621.1_Missense_Mutation_p.D1382E			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1400	Poly-Pro.				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)		CCTCGGTCAGGTCCCGTGAGG	0.706																																					p.D1392E													.	.			0			c.C4176A												8	12	11					12																	124831293		1927	4070	5997	SO:0001583	missense	9612	exon33			GGTCAGGTCCCGT	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.4176C>A	12.37:g.124831293G>T	ENSP00000384018:p.Asp1392Glu		45	0	0		39	0.08	3	NM_006312	11	0	0	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168354	0.38315	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.5	5.45	3.61	0.41365	.	0.254906	0.39615	N	0.001319	T	0.38348	0.1037	N	0.08118	0	0.24160	N	0.995669	D;D;D	0.71674	0.997;0.994;0.998	P;D;P	0.72625	0.81;0.978;0.875	T	0.12863	-1.0531	10	0.45353	T	0.12	-47.9871	7.4056	0.26989	0.1452:0.1386:0.7162:0.0	.	1382;1383;1392	C9J0Q5;C9J239;C9JFD3	.;.;.	E	1392;1382;1399;1383;1391;953;1382;1400	ENSP00000384018:D1392E;ENSP00000384202:D1382E;ENSP00000348551:D1399E;ENSP00000380513:D1383E;ENSP00000385618:D953E;ENSP00000400281:D1382E;ENSP00000402808:D1400E	ENSP00000348551:D1399E	D	-	3	2	NCOR2	123397246	1.000000	0.71417	0.999000	0.59377	0.408000	0.30992	4.163000	0.58183	0.662000	0.31006	0.491000	0.48974	GAC			0.706	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312		T	124831293	G	T	124831293	3	4	99	1	0	0	0	0	1	0	0	0	10253	1252	44	3	3436	3	NCOR2	12	124831293	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	11265338	124831293	9020602	51	7491											
METTL3	56339	mdanderson.org	37	chr14	21971825	21971825	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtggagatggcaagacaGatggacacagcatcagtggg	13	5	15	8	1	1	3	1	0	0	3	1	5	1	4	1	4	1	2	1	4	1	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr14:21971825G>T	ENST00000298717.4	-	2	451	c.300C>A	c.(298-300)atC>atA	p.I100I	METTL3_ENST00000538267.1_Silent_p.I100I	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	100					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TGGCAAGACAGATGGACACAG	0.468																																					p.I100I													.	.			0			c.C300A												164	143	150					14																	21971825		2203	4300	6503	SO:0001819	synonymous_variant	56339	exon2			AAGACAGATGGAC	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.300C>A	14.37:g.21971825G>T			107	0	0		118	0.04	5	NM_019852	61	0	0	O14736|Q86V05|Q9HB32	Silent	SNP	ENST00000298717.4	37	CCDS32044.1																																																																																					0.468	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401227.1		NM_019852		T	21971825	G	T	21971825	2	4	99	1	0	0	0	0	0	0	0	1	9517	932	33	3		3	METTL3	14	21971825	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		21971825	85377715	52	7492											
DHRS4L2	317749	mdanderson.org	37	chr14	24458223	24458223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcggatggccagctccAggatgacccgccgggacccg	6	4	16	15	5	0	1	0	1	0	0	1	4	1	4	5	5	2	1	5	5	0	0	rs139671977	byFrequency	TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr14:24458223A>G	ENST00000335125.6	+	1	193	c.67A>G	c.(67-69)Agg>Ggg	p.R23G	DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.R21G|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.R23G|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.R23G|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.R23G|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.R23G	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	21						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.R23G(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGCCAGCTCCAGGATGACCCG	0.642													N|||	2	0.000399361	0	0.0014	5008	,	,		16658	0.001		0	False		,,,				2504	0				p.R23G													DHRS4L2,trunk,malignant_melanoma,0,1	DHRS4L2	0	1	1	Substitution - Missense(1)	skin(1)	c.A67G							G	,,,GLY/ARG	2,4398	800.5+/-415.6	0,2,2198	55	55	55		,,,67	1.9	0.6	14	dbSNP_134	55	0,8600		0,0,4300	no	intron,intron,intron,missense	DHRS4L2	NM_001193635.1,NM_001193636.1,NM_001193637.1,NM_198083.3	,,,125	0,2,6498	GG,GA,AA		0.0,0.0455,0.0154	,,,	,,,23/233	24458223	2,12998	2200	4300	6500	SO:0001583	missense	317749	exon1			AGCTCCAGGATGA		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.67A>G	14.37:g.24458223A>G	ENSP00000334801:p.Arg23Gly		47	0.0212765957	1		43	0.12	5	NM_198083	9	0	0	Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	G	0.068	-1.209452	0.01568	4.55E-4	0.0	ENSG00000187630	ENST00000397071;ENST00000335125;ENST00000537912;ENST00000545240;ENST00000382755	T;D;T;T;D	0.83250	1.7;-1.68;1.84;2.48;-1.7	2.83	1.92	0.25849	NAD(P)-binding domain (1);	0.695612	0.13571	N	0.378044	T	0.52948	0.1766	N	0.02247	-0.625	0.22253	N	0.999255	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.47420	-0.9119	10	0.02654	T	1	.	4.3802	0.11290	0.1379:0.2326:0.6296:0.0	.	23;21	F6TD35;Q6PKH6	.;DR4L2_HUMAN	G	23;23;23;23;21	ENSP00000380261:R23G;ENSP00000334801:R23G;ENSP00000439942:R23G;ENSP00000437883:R23G;ENSP00000372203:R21G	ENSP00000334801:R23G	R	+	1	2	DHRS4L2	23528063	0.007000	0.16637	0.591000	0.28745	0.071000	0.16799	0.456000	0.21859	0.096000	0.17463	-2.119000	0.00349	AGG	0		0.642	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000071858.4				G	24458223	A	G	24458223	3	3	99	1	0	0	0	0	1	0	0	0	4499	179	7	4	69	4	DHRS4L2	14	24458223	Missense_Mutation	SNP	A	TCGA-VF-A8AC-01A-11D-A435-10	2486398	24458223	82891317	53	7493											
DDHD1	80821	broad.mit.edu	37	chr14	53522376	53522376	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaatacataagagaaattAcctaatatgcttgctttgcc	15	12	7	7	0	0	1	0	0	0	1	0	3	0	2	2	1	5	2	2	1	7	7			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr14:53522376A>G	ENST00000323669.5	-	10	2245		c.e10+1		DDHD1_ENST00000395606.1_Splice_Site|DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000357758.3_Splice_Site	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1						cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AAGAGAAATTACCTAATATGC	0.393																																					.													.	DDHD1	202		0			c.2266+2T>C												131	134	133					14																	53522376		2203	4300	6503	SO:0001630	splice_region_variant	0	exon12			GAAATTACCTAAT	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2245+1T>C	14.37:g.53522376A>G			57	0	0		68	0.12	8	NM_001160147	0		0	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Splice_Site	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878388	0.33162	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4473	0.83942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDHD1	52592126	1.000000	0.71417	0.998000	0.56505	0.008000	0.06430	9.313000	0.96297	2.281000	0.76405	0.533000	0.62120	.			0.393	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000276901.1			Intron	G	53522376	A	G	53522376	5	3	99	1	0	0	0	0	0	0	1	0	4328	405	14	4	471	4	DDHD1	14	53522376	Splice_Site	SNP	A	TCGA-VF-A8AC-01A-11D-A435-10	29064153	53522376	53827164	54	7494											
YLPM1	56252	hgsc.bcm.edu;mdanderson.org	37	chr14	75265422	75265422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaccccgaagagctgggaGcagggagagaggaccacctc	12	2	14	13	1	0	2	0	0	0	2	1	7	0	5	5	3	2	2	5	3	1	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr14:75265422G>T	ENST00000325680.7	+	5	3546	c.3422G>T	c.(3421-3423)aGc>aTc	p.S1141I	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.S946I	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	946	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)		AGAGCTGGGAGCAGGGAGAGA	0.592																																					p.S1141I													.	.			0			c.G3422T												43	48	47					14																	75265422		1896	4116	6012	SO:0001583	missense	56252	exon5			CTGGGAGCAGGGA	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.3422G>T	14.37:g.75265422G>T	ENSP00000324463:p.Ser1141Ile		101	0	0		123	0.04	5	NM_019589	23	0	0	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776060	0.49786	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.78	4.89	0.63831	.	0.065308	0.64402	D	0.000004	T	0.74650	0.3744	M	0.65498	2.005	0.37878	D	0.930303	D	0.57571	0.98	P	0.57846	0.828	T	0.81081	-0.1094	9	0.87932	D	0	-6.7636	16.9664	0.86287	0.0:0.1276:0.8724:0.0	.	1141	P49750-4	.	I	1141;946;854	.	ENSP00000238571:S946I	S	+	2	0	YLPM1	74335175	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.827000	0.62723	1.444000	0.47605	0.643000	0.83706	AGC			0.592	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404451.1		NM_019589		T	75265422	G	T	75265422	3	4	99	1	0	0	0	0	1	0	0	0	17510	971	34	2	3440	2	YLPM1	14	75265422	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	21743046	75265422	32084118	55	7495											
NRXN3	9369	hgsc.bcm.edu	37	chr14	79746680	79746680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagccctcctcgccggccgGcctggacgcttgggatctgg	3	7	16	15	4	1	0	0	0	1	0	3	3	2	3	5	6	1	1	5	6	0	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr14:79746680G>T	ENST00000557594.1	+	1	999	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.A16S|NRXN3_ENST00000281127.7_Missense_Mutation_p.A16S	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	16					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)		TCGCCGGCCGGCCTGGACGCT	0.582																																					p.A16S													.	.			0			c.G46T												149	146	147					14																	79746680		2203	4300	6503	SO:0001583	missense	9369	exon1			CGGCCGGCCTGGA	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.46G>T	14.37:g.79746680G>T	ENSP00000451672:p.Ala16Ser		66	0	0		84	0.05	4	NM_138970	0		0	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37		.	.	.	.	.	.	.	.	.	.	G	15.37	2.812921	0.50527	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35421	1.44;1.51;1.31	5.58	4.63	0.57726	.	.	.	.	.	T	0.33147	0.0853	N	0.03608	-0.345	0.80722	D	1	B;P;P	0.41597	0.116;0.756;0.643	B;P;P	0.60173	0.071;0.87;0.745	T	0.25745	-1.0123	8	.	.	.	.	14.3577	0.66748	0.0:0.1476:0.8524:0.0	.	16;16;16	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	S	16	ENSP00000451672:A16S;ENSP00000281127:A16S;ENSP00000394426:A16S	.	A	+	1	0	NRXN3	78816433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.193000	0.50997	2.647000	0.89833	0.558000	0.71614	GCC			0.582	NRXN3-004	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000413790.1		NM_001105250		T	79746680	G	T	79746680	3	4	99	1	0	0	0	0	1	0	0	0	10684	1203	42	2	2231	2	NRXN3	14	79746680	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	4481258	79746680	27602860	56	7496											
KIF7	374654	mdanderson.org	37	chr15	90174728	90174728	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggggccgcagggtacctCgggggacagcagactcccct	7	5	15	14	2	0	1	0	0	0	1	2	2	1	2	4	5	2	3	4	5	1	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr15:90174728C>A	ENST00000394412.3	-	15	3185	c.3109G>T	c.(3109-3111)Gag>Tag	p.E1037*	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1037					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGGGTACCTCGGGGGACAGC	0.672																																					p.E1037X													.	.			0			c.G3109T												26	25	25					15																	90174728		2194	4284	6478	SO:0001587	stop_gained	374654	exon15			GTACCTCGGGGGA	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3109G>T	15.37:g.90174728C>A	ENSP00000377934:p.Glu1037*		45	0.0222222222	1		33	0.09	3	NM_198525	50	0	0	Q3SXY0|Q6UXE9|Q8IW72	Nonsense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	C	38	7.064260	0.98036	.	.	ENSG00000166813	ENST00000394412	.	.	.	4.67	4.67	0.58626	.	0.048232	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.5841	0.87976	0.0:1.0:0.0:0.0	.	.	.	.	X	1037	.	ENSP00000377934:E1037X	E	-	1	0	KIF7	87975732	1.000000	0.71417	0.994000	0.49952	0.297000	0.27493	7.348000	0.79366	2.138000	0.66242	0.462000	0.41574	GAG			0.672	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347782.1		NM_198525		A	90174728	C	A	90174728	4	1	99	1	0	0	0	0	0	1	0	0	8324	893	31	1	942	1	KIF7	15	90174728	Nonsense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10		90174728	12356664	57	7497											
HMOX2	3163	hgsc.bcm.edu;mdanderson.org	37	chr16	4555575	4555575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtagacgagtcagaaaaaaAgaactctggggccctagaaa	17	5	12	7	1	2	4	1	0	1	4	2	5	2	4	1	3	1	1	1	3	7	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr16:4555575A>G	ENST00000570646.1	+	2	655	c.50A>G	c.(49-51)aAg>aGg	p.K17R	HMOX2_ENST00000458134.3_Missense_Mutation_p.K17R|HMOX2_ENST00000414777.1_Missense_Mutation_p.K17R|HMOX2_ENST00000219700.6_Missense_Mutation_p.K17R|HMOX2_ENST00000406590.2_Missense_Mutation_p.K17R|HMOX2_ENST00000575120.1_Intron|HMOX2_ENST00000398595.3_Missense_Mutation_p.K17R	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	17					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						TCAGAAAAAAAGAACTCTGGG	0.572																																					p.K17R													HMOX2,colon,carcinoma,-1,1	HMOX2	-1	1	0			c.A50G												77	73	74					16																	4555575		2197	4296	6493	SO:0001583	missense	3163	exon2			AAAAAAAGAACTC		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.50A>G	16.37:g.4555575A>G	ENSP00000459214:p.Lys17Arg		41	0.0243902439	1		44	0.07	3	NM_001127205	159	0	0	A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	A	4.970	0.180107	0.09443	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.74	2.18	0.27775	.	0.959677	0.08723	N	0.903174	T	0.13798	0.0334	N	0.17082	0.46	0.20873	N	0.999839	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38178	-0.9673	10	0.19147	T	0.46	-9.8086	4.7863	0.13227	0.6728:0.1596:0.1675:0.0	.	17;17	B3KSE0;P30519	.;HMOX2_HUMAN	R	17	ENSP00000385100:K17R;ENSP00000394103:K17R;ENSP00000219700:K17R;ENSP00000391637:K17R;ENSP00000381595:K17R	ENSP00000219700:K17R	K	+	2	0	HMOX2	4495576	0.004000	0.15560	0.196000	0.23383	0.087000	0.18053	0.465000	0.22004	0.094000	0.17404	0.528000	0.53228	AAG			0.572	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251636.2				G	4555575	A	G	4555575	3	3	99	1	0	0	0	0	1	0	0	0	7259	72	3	4	52	4	HMOX2	16	4555575	Missense_Mutation	SNP	A	TCGA-VF-A8AC-01A-11D-A435-10		4555575	85799178	58	7498											
ARHGAP17	55114	mdanderson.org	37	chr16	24958877	24958877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcattttattcacatcGctggtctgagcaagctttgc	8	14	10	9	1	3	1	2	1	1	0	4	2	3	2	0	2	3	3	0	2	2	4			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr16:24958877G>T	ENST00000289968.6	-	14	1236	c.1167C>A	c.(1165-1167)agC>agA	p.S389R	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.S389R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	389	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)|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)		TATTCACATCGCTGGTCTGAG	0.428																																					p.S389R													.	.			0			c.C1167A												138	121	127					16																	24958877		2197	4300	6497	SO:0001583	missense	55114	exon14			CACATCGCTGGTC	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.1167C>A	16.37:g.24958877G>T	ENSP00000289968:p.Ser389Arg		53	0	0		43	0.07	3	NM_018054	33	0	0	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881634	0.72294	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.24151	1.87;1.87	5.9	-8.89	0.00785	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.52532	D	0.000078	T	0.44498	0.1296	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71111	-0.4687	10	0.52906	T	0.07	.	16.9313	0.86190	0.4058:0.0:0.5942:0.0	.	389;389	Q68EM7-2;Q68EM7	.;RHG17_HUMAN	R	389	ENSP00000289968:S389R;ENSP00000303130:S389R	ENSP00000289968:S389R	S	-	3	2	ARHGAP17	24866378	0.163000	0.22920	0.232000	0.24009	0.982000	0.71751	-0.269000	0.08596	-2.309000	0.00651	-0.312000	0.09012	AGC			0.428	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436548.3		NM_018054		T	24958877	G	T	24958877	3	4	99	1	0	0	0	0	1	0	0	0	867	1078	38	1	1506	1	ARHGAP17	16	24958877	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	20403302	24958877	65395876	59	7499											
CES3	23491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67006271	67006271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtagattctggaagccCtgtctttttctatgagttcc	6	17	8	10	0	4	2	0	1	4	1	5	3	5	3	2	1	1	2	2	1	3	6			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr16:67006271C>T	ENST00000303334.4	+	11	1375	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L	CES3_ENST00000394037.1_Missense_Mutation_p.P435L|CES3_ENST00000543856.1_Missense_Mutation_p.P74L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	435						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCTGGAAGCCCTGTCTTTTTC	0.493																																					p.P435L													.	.			0			c.C1304T												297	307	304					16																	67006271		2200	4300	6500	SO:0001583	missense	23491	exon11			GAAGCCCTGTCTT	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1304C>T	16.37:g.67006271C>T	ENSP00000304782:p.Pro435Leu		182	0	0		154	0.14	21	NM_024922	8	0.25	2	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658040	0.88154	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.13538	2.58;2.58;2.58	5.13	5.13	0.70059	Carboxylesterase, type B (1);	0.456574	0.16502	N	0.211590	T	0.43456	0.1248	M	0.89715	3.055	0.46203	D	0.998929	D;P	0.56035	0.974;0.828	P;P	0.58928	0.848;0.821	T	0.52946	-0.8507	10	0.87932	D	0	.	17.3363	0.87282	0.0:1.0:0.0:0.0	.	74;435	F5H242;Q6UWW8	.;EST3_HUMAN	L	435;435;74	ENSP00000304782:P435L;ENSP00000377602:P435L;ENSP00000445559:P74L	ENSP00000304782:P435L	P	+	2	0	CES3	65563772	0.641000	0.27251	0.005000	0.12908	0.099000	0.18886	6.909000	0.75735	2.395000	0.81488	0.579000	0.79373	CCT			0.493	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268848.1		NM_024922		T	67006271	C	T	67006271	3	4	99	1	0	0	0	0	1	0	0	0	3273	681	24	3	1346	3	CES3	16	67006271	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10	42047394	67006271	23348482	60	7500											
KIAA0513	9764	mdanderson.org	37	chr16	85101005	85101005	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagatcttctctggaGggtaaggggcctgtgtggac	8	10	17	6	0	2	2	0	0	2	2	3	5	2	4	1	6	0	1	1	6	2	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr16:85101005G>T	ENST00000566428.1	+	2	959	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	KIAA0513_ENST00000538274.1_Splice_Site_p.G110W|KIAA0513_ENST00000258180.3_Splice_Site_p.G110W|KIAA0513_ENST00000567328.1_Splice_Site_p.G110W			O60268	K0513_HUMAN	KIAA0513	110						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)		CTTCTCTGGAGGGTAAGGGGC	0.627																																					p.G110W													.	.			0			c.G328T												43	33	36					16																	85101005		2193	4288	6481	SO:0001630	splice_region_variant	9764	exon2			TCTGGAGGGTAAG	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.329+1G>T	16.37:g.85101005G>T			11	0	0		20	0.1	2	NM_014732	31	0	0	B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355021	0.61293	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35605	1.3;1.3	4.68	4.68	0.58851	.	0.358456	0.31177	N	0.008105	T	0.42899	0.1223	L	0.60455	1.87	0.46631	D	0.999132	P;P	0.47484	0.896;0.89	P;B	0.45610	0.487;0.293	T	0.48768	-0.9006	10	0.66056	D	0.02	-26.6945	16.5569	0.84487	0.0:0.0:1.0:0.0	.	110;110	B4DSS5;O60268	.;K0513_HUMAN	W	110	ENSP00000446439:G110W;ENSP00000258180:G110W	ENSP00000258180:G110W	G	+	1	0	KIAA0513	83658506	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	2.789000	0.47813	2.304000	0.77564	0.655000	0.94253	GGG			0.627	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432736.1		NM_014732	Missense_Mutation	T	85101005	G	T	85101005	5	4	99	1	0	0	0	0	0	0	1	0	8196	1014	35	3	330	3	KIAA0513	16	85101005	Splice_Site	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	18094734	85101005	5253748	61	7501											
GRB7	2886	mdanderson.org	37	chr17	37903138	37903138	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgccattgctgcacgcgGgtggccctctgaccaggccg	4	7	14	16	4	1	1	0	1	1	0	1	1	1	1	4	3	3	2	4	3	0	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr17:37903138G>T	ENST00000309156.4	+	15	1844	c.1587G>T	c.(1585-1587)cgG>cgT	p.R529R	GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000394209.2_Silent_p.R529R|GRB7_ENST00000394211.3_Silent_p.R529R|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.R552R	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	529					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)			GCTGCACGCGGGTGGCCCTCT	0.687																																					p.R552R													.	.			0			c.G1656T												61	48	52					17																	37903138		2203	4300	6503	SO:0001819	synonymous_variant	2886	exon15			CACGCGGGTGGCC	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.1587G>T	17.37:g.37903138G>T			18	0	0		17	0.18	3	NM_001242442	97	0	0	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Silent	SNP	ENST00000309156.4	37	CCDS11345.1																																																																																					0.687	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257024.2		NM_005310		T	37903138	G	T	37903138	2	4	99	1	0	0	0	0	0	0	0	1	6774	1219	43	3		3	GRB7	17	37903138	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		37903138	43292072	62	7502											
IGFBP4	3487	mdanderson.org	37	chr17	38600240	38600240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgctacccgccccgaGgggtggagaagcccctgcac	6	5	14	16	3	0	1	0	0	0	1	0	3	0	1	5	3	5	3	5	3	2	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr17:38600240G>T	ENST00000269593.4	+	1	528	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	IGFBP4_ENST00000542955.1_Intron	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	85	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCGCCCCGAGGGGTGGAGAA	0.692																																					p.G85W	GBM(160;940 3581 26177)												.	.			0			c.G253T												9	7	8					17																	38600240		2060	4031	6091	SO:0001583	missense	3487	exon1			CCCCGAGGGGTGG	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.253G>T	17.37:g.38600240G>T	ENSP00000269593:p.Gly85Trp		17	0	0		11	0.18	2	NM_001552	159	0	0	A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337195	0.81911	.	.	ENSG00000141753	ENST00000269593	T	0.66995	-0.24	5.16	4.19	0.49359	Insulin-like growth factor-binding protein, IGFBP (2);Growth factor, receptor (1);	0.133232	0.49305	D	0.000146	D	0.85039	0.5606	M	0.91612	3.225	0.45272	D	0.998273	D	0.89917	1.0	D	0.83275	0.996	D	0.88761	0.3257	10	0.87932	D	0	-4.005	15.3533	0.74405	0.0:0.1405:0.8595:0.0	.	85	P22692	IBP4_HUMAN	W	85	ENSP00000269593:G85W	ENSP00000269593:G85W	G	+	1	0	IGFBP4	35853766	1.000000	0.71417	0.732000	0.30844	0.991000	0.79684	7.686000	0.84128	1.172000	0.42781	0.591000	0.81541	GGG			0.692	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257134.1		NM_001552		T	38600240	G	T	38600240	3	4	99	1	0	0	0	0	1	0	0	0	7596	1000	35	3	255	3	IGFBP4	17	38600240	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	697102	38600240	42594970	63	7503											
PHOSPHO1	162466	mdanderson.org	37	chr17	47301674	47301674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtttcccagggcaccacGctggcgcggaacgagctggg	6	5	16	14	5	0	0	0	0	0	0	1	2	1	1	3	4	2	4	3	4	1	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr17:47301674G>T	ENST00000310544.4	-	3	865	c.738C>A	c.(736-738)agC>agA	p.S246R	PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.S271R|PHOSPHO1_ENST00000413580.1_Missense_Mutation_p.S271R			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	246					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	AGGGCACCACGCTGGCGCGGA	0.706																																					p.S271R													.	.			0			c.C813A												8	9	9					17																	47301674		2164	4231	6395	SO:0001583	missense	162466	exon3			CACCACGCTGGCG	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.738C>A	17.37:g.47301674G>T	ENSP00000311925:p.Ser246Arg		25	0	0		18	0.11	2	NM_001143804	1	0	0	E9PAM0|Q17RU6	Missense_Mutation	SNP	ENST00000310544.4	37	CCDS11547.1	.	.	.	.	.	.	.	.	.	.	G	6.352	0.433076	0.12045	.	.	ENSG00000173868	ENST00000310544;ENST00000413580;ENST00000514112	T;T;T	0.44881	0.91;0.91;0.91	5.3	-0.143	0.13444	HAD-like domain (1);	1.239060	0.05094	N	0.485724	T	0.30885	0.0779	L	0.35341	1.055	0.26807	N	0.969088	B;B	0.18461	0.028;0.0	B;B	0.26416	0.069;0.002	T	0.24476	-1.0159	10	0.17832	T	0.49	.	5.6016	0.17357	0.2729:0.2388:0.4883:0.0	.	246;271	Q8TCT1;E9PAM0	PHOP1_HUMAN;.	R	246;271;271	ENSP00000311925:S246R;ENSP00000406909:S271R;ENSP00000427694:S271R	ENSP00000311925:S246R	S	-	3	2	PHOSPHO1	44656673	0.015000	0.18098	0.227000	0.23927	0.166000	0.22503	-0.043000	0.12043	-0.208000	0.10171	-1.101000	0.02118	AGC			0.706	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364467.2				T	47301674	G	T	47301674	3	4	99	1	0	0	0	0	1	0	0	0	11873	1078	38	1	69	1	PHOSPHO1	17	47301674	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	8701434	47301674	33893536	64	7504											
SLC39A11	201266	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	70645032	70645032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagggcaggatgggctcaGccagcaccacggcaaaggca	11	3	15	12	2	1	0	1	0	0	0	1	1	1	1	2	5	2	6	2	5	2	1	rs61736066	byFrequency	TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr17:70645032G>C	ENST00000542342.2	-	9	948	c.860C>G	c.(859-861)gCt>gGt	p.A287G	SLC39A11_ENST00000255559.3_Missense_Mutation_p.A280G|SLC39A11_ENST00000579988.1_5'UTR	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	287					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GATGGGCTCAGCCAGCACCAC	0.607																																					p.A287G	NSCLC(95;736 1527 12296 39625 41839)												.	.			0			c.C860G												62	57	59					17																	70645032		2203	4300	6503	SO:0001583	missense	201266	exon9			GGCTCAGCCAGCA	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"Solute carriers"	14463	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 26"	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.860C>G	17.37:g.70645032G>C	ENSP00000445829:p.Ala287Gly		68	0	0		61	0.1	6	NM_001159770	23	0.22	5	B2R8H7|Q8WZ81	Missense_Mutation	SNP	ENST00000542342.2	37	CCDS54160.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855987	0.91355	.	.	ENSG00000133195	ENST00000542342;ENST00000255559	T;T	0.51574	0.7;0.7	5.5	4.5	0.54988	.	0.125962	0.52532	D	0.000072	T	0.66446	0.2790	M	0.76433	2.335	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.72338	0.977;0.931	T	0.65389	-0.6180	10	0.25751	T	0.34	.	15.3722	0.74573	0.0:0.0:0.8594:0.1406	.	287;280	Q8N1S5;Q8N1S5-2	S39AB_HUMAN;.	G	287;280	ENSP00000445829:A287G;ENSP00000255559:A280G	ENSP00000255559:A280G	A	-	2	0	SLC39A11	68156627	1.000000	0.71417	0.831000	0.32960	0.996000	0.88848	8.972000	0.93424	1.258000	0.44101	0.655000	0.94253	GCT			0.607	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000441442.1				C	70645032	G	C	70645032	3	2	99	1	0	0	0	0	1	0	0	0	14637	971	34	5	176	5	SLC39A11	17	70645032	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	23343358	70645032	10550178	65	7505											
MYOM1	8736	mdanderson.org	37	chr18	3083876	3083876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtgctctggattttcagGtctgtagcagacaaagctga	9	12	12	8	0	3	2	1	1	2	1	3	3	3	3	0	2	3	5	0	2	2	3			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr18:3083876G>T	ENST00000356443.4	-	33	4728	c.4395C>A	c.(4393-4395)gaC>gaA	p.D1465E	MYOM1_ENST00000400569.3_Missense_Mutation_p.D1465E|MYOM1_ENST00000261606.7_Missense_Mutation_p.D1369E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1465					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						GGATTTTCAGGTCTGTAGCAG	0.428																																					p.D1465E													.	.			0			c.C4395A												100	91	94					18																	3083876		1874	4113	5987	SO:0001583	missense	8736	exon33			TTTCAGGTCTGTA	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.4395C>A	18.37:g.3083876G>T	ENSP00000348821:p.Asp1465Glu		49	0	0		74	0.05	4	NM_003803	0		0	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	3.244	-0.154760	0.06544	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.47177	0.99;0.96;0.85	5.84	1.69	0.24217	.	0.272836	0.42053	D	0.000765	T	0.15305	0.0369	N	0.01705	-0.755	0.36943	D	0.892471	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13335	-1.0513	10	0.07813	T	0.8	.	5.6075	0.17387	0.3063:0.0:0.4849:0.2088	.	1369;1465	P52179-2;P52179	.;MYOM1_HUMAN	E	1465;1465;1369	ENSP00000348821:D1465E;ENSP00000383413:D1465E;ENSP00000261606:D1369E	ENSP00000261606:D1369E	D	-	3	2	MYOM1	3073876	0.799000	0.28903	1.000000	0.80357	0.997000	0.91878	-0.075000	0.11431	0.391000	0.25143	0.655000	0.94253	GAC			0.428	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000441037.2		NM_003803		T	3083876	G	T	3083876	3	4	99	1	0	0	0	0	1	0	0	0	10107	1252	44	3	686	3	MYOM1	18	3083876	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		3083876	74993372	66	7506											
ZFR2	23217	mdanderson.org	37	chr19	3806039	3806039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgcctcttccggaagcGggcccccagccggtgtctgg	3	8	14	16	4	2	0	0	0	2	0	3	1	3	1	6	4	3	1	6	4	1	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr19:3806039G>T	ENST00000262961.4	-	19	2738	c.2728C>A	c.(2728-2730)Cgc>Agc	p.R910S		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	910	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						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)		TTCCGGAAGCGGGCCCCCAGC	0.716																																					p.R910S													.	.			0			c.C2728A												7	9	9					19																	3806039		1876	4042	5918	SO:0001583	missense	23217	exon19			GGAAGCGGGCCCC	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.2728C>A	19.37:g.3806039G>T	ENSP00000262961:p.Arg910Ser		42	0	0		50	0.06	3	NM_015174	0		0		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563570	0.45694	.	.	ENSG00000105278	ENST00000262961	T	0.07216	3.21	3.04	0.746	0.18365	.	0.082725	0.46442	U	0.000281	T	0.04048	0.0113	L	0.31926	0.97	0.42535	D	0.993058	P	0.38827	0.649	B	0.29598	0.104	T	0.53265	-0.8463	10	0.21540	T	0.41	.	4.2602	0.10737	0.1398:0.2384:0.6217:0.0	.	910	Q9UPR6	ZFR2_HUMAN	S	910	ENSP00000262961:R910S	ENSP00000262961:R910S	R	-	1	0	ZFR2	3757039	0.963000	0.33076	0.005000	0.12908	0.002000	0.02628	1.885000	0.39678	0.145000	0.18977	-1.054000	0.02325	CGC			0.716	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453648.2		NM_015174		T	3806039	G	T	3806039	3	4	99	1	0	0	0	0	1	0	0	0	17683	1116	39	1	95	1	ZFR2	19	3806039	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		3806039	55322944	67	7507											
PNPLA6	10908	mdanderson.org	37	chr19	7615966	7615966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcccgagggcaccttGggtcacatcaaacgccggta	10	7	11	13	3	2	0	2	0	0	0	3	1	3	0	3	3	2	3	3	3	3	3			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr19:7615966G>T	ENST00000221249.6	+	20	2471	c.2040G>T	c.(2038-2040)ttG>ttT	p.L680F	PNPLA6_ENST00000414982.3_Missense_Mutation_p.L728F|PNPLA6_ENST00000600737.1_Missense_Mutation_p.L719F|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L654F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L680F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	719					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGGCACCTTGGGTCACATCA	0.736																																					p.L728F													.	.			0			c.G2184T												5	5	5					19																	7615966		2004	3891	5895	SO:0001583	missense	10908	exon19			CACCTTGGGTCAC	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2040G>T	19.37:g.7615966G>T	ENSP00000221249:p.Leu680Phe		49	0	0		50	0.08	4	NM_001166111	60	0	0	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.424103	0.43020	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	4.98	-0.213	0.13165	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000002	T	0.25568	0.0622	N	0.05510	-0.035	0.58432	D	0.999996	D;D;D;B	0.54397	0.966;0.958;0.958;0.166	P;P;P;B	0.61397	0.888;0.885;0.862;0.168	T	0.13575	-1.0504	10	0.06891	T	0.86	.	8.5896	0.33679	0.3932:0.0:0.6068:0.0	.	719;654;719;680	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	F	680;654;728;680	ENSP00000221249:L680F;ENSP00000443323:L654F;ENSP00000407509:L728F;ENSP00000394348:L680F	ENSP00000221249:L680F	L	+	3	2	PNPLA6	7521966	0.757000	0.28394	0.957000	0.39632	0.987000	0.75469	-0.132000	0.10467	0.018000	0.15052	0.591000	0.81541	TTG			0.736	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459275.1		NM_006702		T	7615966	G	T	7615966	3	4	99	1	0	0	0	0	1	0	0	0	12186	1339	47	3	2254	3	PNPLA6	19	7615966	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	3809927	7615966	51513017	68	7508											
MUC16	94025	broad.mit.edu	37	chr19	9008299	9008299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttgagggttaaggtggtGggtgcagatggcatccactc	7	11	16	7	0	0	2	0	1	0	1	2	2	1	2	1	5	1	4	1	5	1	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr19:9008299G>T	ENST00000397910.4	-	41	39456	c.39253C>A	c.(39253-39255)Cac>Aac	p.H13085N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13087	SEA 7. {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						TTAAGGTGGTGGGTGCAGATG	0.562																																					p.H13085N													.	MUC16	4315		0			c.C39253A												127	116	119					19																	9008299		1956	4167	6123	SO:0001583	missense	94025	exon41			GGTGGTGGGTGCA	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.39253C>A	19.37:g.9008299G>T	ENSP00000381008:p.His13085Asn		137	0.0072992701	1		151	0.03	5	NM_024690	0		0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.711	0.132187	0.08981	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.38240	1.15	2.04	-3.75	0.04372	.	.	.	.	.	T	0.37865	0.1019	M	0.85197	2.74	.	.	.	B	0.21309	0.054	B	0.17098	0.017	T	0.39702	-0.9601	8	0.87932	D	0	-2.0807	7.3389	0.26625	0.4814:0.0:0.5186:0.0	.	13085	B5ME49	.	N	13085;238	ENSP00000381008:H13085N	ENSP00000381008:H13085N	H	-	1	0	MUC16	8869299	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.614000	0.05604	-1.131000	0.02910	0.195000	0.17529	CAC			0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690		T	9008299	G	T	9008299	3	4	99	1	0	0	0	0	1	0	0	0	9989	1348	47	3	4446	3	MUC16	19	9008299	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	1392333	9008299	50120684	69	7509											
OR7G1	125962	mdanderson.org	37	chr19	9226017	9226017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagaagaatcagcaagccCcagaaatggacattcatgag	17	5	11	8	0	2	4	2	1	0	3	2	7	2	5	2	1	2	1	2	1	4	1	rs2217657	byFrequency	TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr19:9226017C>T	ENST00000541538.1	-	1	422	c.423G>A	c.(421-423)tgG>tgA	p.W141*	OR7G1_ENST00000293614.1_Nonsense_Mutation_p.W141*	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	141			W -> C (in dbSNP:rs2217657).			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)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TCAGCAAGCCCCAGAAATGGA	0.493																																					p.W141X													OR7G1,NS,carcinoma,0,3	OR7G1	0	3	0			c.G423A												82	86	85					19																	9226017		2203	4300	6503	SO:0001587	stop_gained	125962	exon1			CAAGCCCCAGAAA		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.423G>A	19.37:g.9226017C>T	ENSP00000444134:p.Trp141*		108	0	0		120	0.03	3	NM_001005192	0		0	Q6IFJ5|Q96RA1	Nonsense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	a	19.75	3.886066	0.72410	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	.	.	.	3.78	1.58	0.23477	.	0.000000	0.41938	U	0.000781	.	.	.	.	.	.	0.09310	P	0.99999999753731	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.2712	0.15627	0.6745:0.1497:0.1759:0.0	.	.	.	.	X	141	.	ENSP00000293614:W141X	W	-	3	0	OR7G1	9087017	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-0.383000	0.07398	-0.132000	0.11557	-2.681000	0.00142	TGG			0.493	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397912.1				T	9226017	C	T	9226017	4	4	99	1	0	0	0	0	0	1	0	0	11239	624	22	3	586	3	OR7G1	19	9226017	Nonsense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10	217718	9226017	49902966	70	7510											
ZNF30	90075	broad.mit.edu;mdanderson.org	37	chr19	35424555	35424555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccgttctaaaccacatGtgatcgccttattggaacaa	12	12	6	11	2	1	1	0	1	1	0	3	2	2	2	3	1	2	1	3	1	5	5			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr19:35424555G>T	ENST00000601142.1	+	4	421	c.184G>T	c.(184-186)Gtg>Ttg	p.V62L	ZNF30_ENST00000303586.7_Missense_Mutation_p.V63L|ZNF30_ENST00000595818.1_3'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.V63L|ZNF30_ENST00000601957.1_Missense_Mutation_p.V62L|ZNF30_ENST00000426813.2_5'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TAAACCACATGTGATCGCCTT	0.408																																					p.V63L													.	ZNF30	44		0			c.G187T												90	81	84					19																	35424555		1970	4170	6140	SO:0001583	missense	90075	exon4			CCACATGTGATCG	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.184G>T	19.37:g.35424555G>T	ENSP00000469954:p.Val62Leu		127	0	0		128	0.04	5	NM_001099438	7	0	0	A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	G	9.697	1.153455	0.21371	.	.	ENSG00000168661	ENST00000439785;ENST00000303586	T	0.00745	5.75	1.52	1.52	0.23074	Krueppel-associated box (3);	.	.	.	.	T	0.00637	0.0021	N	0.25332	0.735	0.33890	D	0.637259	B;B	0.28584	0.216;0.002	B;B	0.20384	0.029;0.004	T	0.48570	-0.9024	9	0.26408	T	0.33	.	6.4749	0.22031	0.0:0.0:1.0:0.0	.	63;62	P17039-2;P17039	.;ZNF30_HUMAN	L	63;62	ENSP00000403441:V63L	ENSP00000303889:V62L	V	+	1	0	ZNF30	40116395	0.032000	0.19561	0.301000	0.25044	0.514000	0.34195	-0.041000	0.12084	1.149000	0.42402	0.514000	0.50259	GTG			0.408	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464432.1		NM_194325		T	35424555	G	T	35424555	3	4	99	1	0	0	0	0	1	0	0	0	17853	1377	48	3	197	3	ZNF30	19	35424555	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	26198538	35424555	23704428	71	7511											
ZNF540	163255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	38103317	38103317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacagaagaactcatgcagGtaagaaaccttatgaatgta	18	8	8	7	0	1	4	1	1	0	3	1	4	1	4	1	1	3	3	1	1	7	3			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr19:38103317G>C	ENST00000592533.1	+	5	1468	c.1136G>C	c.(1135-1137)gGt>gCt	p.G379A	ZNF540_ENST00000589117.1_Missense_Mutation_p.G347A|ZNF540_ENST00000343599.5_Missense_Mutation_p.G379A|ZNF540_ENST00000316433.4_Missense_Mutation_p.G379A	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	379					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCATGCAGGTAAGAAACCT	0.368																																					p.G379A													ZNF540,NS,carcinoma,+1,1	ZNF540	1	1	0			c.G1136C												84	83	83					19																	38103317		2203	4300	6503	SO:0001583	missense	163255	exon5			ATGCAGGTAAGAA	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1136G>C	19.37:g.38103317G>C	ENSP00000466274:p.Gly379Ala		83	0	0		117	0.12	14	NM_152606	29	0.31	9	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317231	0.81469	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.26373	1.74	2.39	2.39	0.29439	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42743	0.1216	M	0.72479	2.2	0.29575	N	0.849606	D;D	0.65815	0.993;0.995	P;P	0.57057	0.715;0.812	T	0.41124	-0.9526	9	0.87932	D	0	.	11.8424	0.52361	0.0:0.0:1.0:0.0	.	347;379	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	A	379;347	ENSP00000324598:G379A	ENSP00000324598:G379A	G	+	2	0	ZNF540	42795157	0.055000	0.20627	0.006000	0.13384	0.983000	0.72400	1.322000	0.33689	1.313000	0.45069	0.305000	0.20034	GGT			0.368	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000459481.1		NM_152606		C	38103317	G	C	38103317	3	2	99	1	0	0	0	0	1	0	0	0	17998	1261	44	5	1150	5	ZNF540	19	38103317	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	2678762	38103317	21025666	72	7512											
RYR1	6261	broad.mit.edu	37	chr19	38964342	38964342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggggcaccccgcaggcggGgggagaggcgcagcccgcca	6	0	20	15	5	0	1	0	0	0	1	0	2	0	1	4	7	1	3	4	7	0	0			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr19:38964342G>T	ENST00000359596.3	+	28	4091	c.4091G>T	c.(4090-4092)gGg>gTg	p.G1364V	RYR1_ENST00000360985.3_Missense_Mutation_p.G1364V|RYR1_ENST00000355481.4_Missense_Mutation_p.G1364V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1364	6 X approximate repeats.|B30.2/SPRY 3. {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)	CCGCAGGCGGGGGGAGAGGCG	0.677																																					p.G1364V													.	RYR1	708		0			c.G4091T												2	3	3					19																	38964342		1628	3200	4828	SO:0001583	missense	6261	exon28			AGGCGGGGGGAGA	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.4091G>T	19.37:g.38964342G>T	ENSP00000352608:p.Gly1364Val		58	0	0		102	0.03	3	NM_001042723	0		0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	8.835	0.940870	0.18281	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96522	-4.04;-4.04;-4.04	5.05	3.94	0.45596	B30.2/SPRY domain (1);	.	.	.	.	D	0.88243	0.6384	N	0.08118	0	0.47407	D	0.999414	B;B	0.33637	0.42;0.063	B;B	0.29176	0.099;0.04	D	0.86083	0.1545	9	0.16420	T	0.52	.	10.6106	0.45419	0.0:0.1951:0.8049:0.0	.	1364;1364	P21817-2;P21817	.;RYR1_HUMAN	V	1364	ENSP00000352608:G1364V;ENSP00000347667:G1364V;ENSP00000354254:G1364V	ENSP00000347667:G1364V	G	+	2	0	RYR1	43656182	1.000000	0.71417	0.987000	0.45799	0.070000	0.16714	2.469000	0.45110	2.340000	0.79590	0.448000	0.29417	GGG			0.677	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462137.1				T	38964342	G	T	38964342	3	4	99	1	0	0	0	0	1	0	0	0	13791	1232	43	3	4201	3	RYR1	19	38964342	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	861025	38964342	20164641	73	7513											
GYS1	2997	mdanderson.org	37	chr19	49488754	49488754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgctgtgcctcgatggCggtgatctgggacacagtag	8	9	15	9	2	1	1	0	1	1	0	2	3	1	2	1	3	2	2	1	3	2	1	rs372637032		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr19:49488754C>T	ENST00000323798.3	-	5	983	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Missense_Mutation_p.A183T|GYS1_ENST00000541188.1_Missense_Mutation_p.A183T|GYS1_ENST00000457974.1_5'Flank|GYS1_ENST00000263276.6_Missense_Mutation_p.A199T	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	263					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)		GCCTCGATGGCGGTGATCTGG	0.582																																					p.A263T													.	.			0			c.G787A							C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	125	96	106		595,787	3.7	0.9	19		106	0,8600		0,0,4300	no	missense,missense	GYS1	NM_001161587.1,NM_002103.4	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	199/674,263/738	49488754	1,13005	2203	4300	6503	SO:0001583	missense	2997	exon5			CGATGGCGGTGAT		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.787G>A	19.37:g.49488754C>T	ENSP00000317904:p.Ala263Thr		61	0	0		51	0.06	3	NM_002103	22	0	0	Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318009	0.81469	2.27E-4	0.0	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000540532	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.75	3.7	0.42460	.	0.049737	0.85682	D	0.000000	T	0.80909	0.4714	M	0.87971	2.92	0.54753	D	0.999983	D;P;P	0.56746	0.977;0.657;0.923	B;B;B	0.43728	0.429;0.152;0.332	D	0.84500	0.0616	10	0.72032	D	0.01	-15.4563	13.0761	0.59087	0.0:0.8371:0.1629:0.0	.	183;199;263	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	T	263;199;183;183	ENSP00000317904:A263T;ENSP00000263276:A199T;ENSP00000437922:A183T;ENSP00000445197:A183T	ENSP00000263276:A199T	A	-	1	0	GYS1	54180566	1.000000	0.71417	0.899000	0.35326	0.920000	0.55202	5.829000	0.69316	1.119000	0.41883	0.455000	0.32223	GCC			0.582	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319791.1		NM_002103		T	49488754	C	T	49488754	3	4	99	1	0	0	0	0	1	0	0	0	6927	768	27	1	1474	1	GYS1	19	49488754	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10	10524412	49488754	9640229	74	7514											
ZNF615	284370	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	52496353	52496353	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttttgcgcaaagagaatTttccacattcagtacatgca	13	13	6	9	1	1	1	1	0	0	1	2	2	2	1	1	0	3	3	1	0	3	6			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr19:52496353T>G	ENST00000602063.1	-	6	2325	c.1976A>C	c.(1975-1977)aAa>aCa	p.K659T	ZNF615_ENST00000391795.3_Missense_Mutation_p.K664T|ZNF615_ENST00000594083.1_Missense_Mutation_p.K670T|ZNF615_ENST00000376716.5_Missense_Mutation_p.K659T|ZNF615_ENST00000598071.1_Missense_Mutation_p.K670T			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAAAGAGAATTTTCCACATTC	0.398																																					p.K670T													.	.			0			c.A2009C												155	154	154					19																	52496353		2203	4300	6503	SO:0001583	missense	284370	exon7			GAGAATTTTCCAC	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1976A>C	19.37:g.52496353T>G	ENSP00000473089:p.Lys659Thr		154	0	0		189	0.13	24	NM_001199324	12	0	0	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963819	0.53507	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.21932	1.98;1.98	3.14	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42381	0.1200	M	0.85373	2.75	0.24786	N	0.992781	D;D;D;D	0.60160	0.987;0.984;0.984;0.987	P;P;P;P	0.60415	0.874;0.801;0.801;0.874	T	0.23904	-1.0175	9	0.87932	D	0	.	6.5405	0.22377	0.0:0.1221:0.0:0.8779	.	664;666;670;659	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	T	659;669;664;613	ENSP00000365906:K659T;ENSP00000375672:K664T	ENSP00000347019:K669T	K	-	2	0	ZNF615	57188165	0.929000	0.31497	0.848000	0.33437	0.988000	0.76386	1.040000	0.30278	1.431000	0.47355	0.533000	0.62120	AAA			0.398	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462391.1		NM_198480		G	52496353	T	G	52496353	3	3	99	1	0	0	0	0	1	0	0	0	18063	1841	64	4	223	4	ZNF615	19	52496353	Missense_Mutation	SNP	T	TCGA-VF-A8AC-01A-11D-A435-10	3007599	52496353	6632630	75	7515											
ZNF341	84905	mdanderson.org	37	chr20	32379155	32379155	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttcgcagagccggacgcGgtgctgtccatcgttgtggg	4	9	15	13	5	0	1	0	0	0	1	3	2	1	2	3	3	2	3	3	3	0	2	rs548375525		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr20:32379155G>T	ENST00000375200.1	+	15	2762	c.2397G>T	c.(2395-2397)gcG>gcT	p.A799A	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Silent_p.A792A	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	799					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.A792A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGCCGGACGCGGTGCTGTCCA	0.701																																					p.A792A													ZNF341,bladder,carcinoma,0,1	ZNF341	0	1	1	Substitution - coding silent(1)	urinary_tract(1)	c.G2376T												35	37	36					20																	32379155		2201	4299	6500	SO:0001819	synonymous_variant	84905	exon15			GGACGCGGTGCTG	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.2397G>T	20.37:g.32379155G>T			53	0	0		26	0.08	2	NM_032819	16	0	0	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37																																																																																						0.701	ZNF341-201	KNOWN	basic	protein_coding	protein_coding						T	32379155	G	T	32379155	2	4	99	1	0	0	0	0	0	0	0	1	17880	1103	39	1		1	ZNF341	20	32379155	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		32379155	30646365	76	7516											
MYH7B	57644	mdanderson.org	37	chr20	33584173	33584173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaacctgacggaagagatgGctgcgctggacgagtcagtg	11	6	16	8	3	1	3	1	1	0	2	1	7	1	5	1	3	2	2	1	3	2	0	rs566478593		TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr20:33584173G>T	ENST00000262873.7	+	27	3186	c.3094G>T	c.(3094-3096)Gct>Tct	p.A1032S		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	990						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)			GGAAGAGATGGCTGCGCTGGA	0.662																																					p.A1032S													.	.			0			c.G3094T												18	21	20					20																	33584173		2192	4297	6489	SO:0001583	missense	57644	exon29			GAGATGGCTGCGC	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.3094G>T	20.37:g.33584173G>T	ENSP00000262873:p.Ala1032Ser		54	0	0		44	0.07	3	NM_020884	0		0	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268556	0.59540	.	.	ENSG00000078814	ENST00000262873	D	0.83075	-1.68	4.51	4.51	0.55191	.	0.000000	0.34386	N	0.004002	T	0.78489	0.4291	L	0.45352	1.415	0.51012	D	0.999903	B	0.23540	0.087	B	0.18561	0.022	T	0.75388	-0.3335	10	0.41790	T	0.15	.	17.8258	0.88665	0.0:0.0:1.0:0.0	.	990	A7E2Y1	MYH7B_HUMAN	S	1032	ENSP00000262873:A1032S	ENSP00000262873:A1032S	A	+	1	0	MYH7B	33047834	1.000000	0.71417	0.993000	0.49108	0.905000	0.53344	6.507000	0.73717	2.523000	0.85059	0.655000	0.94253	GCT			0.662	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000078833.2		NM_020884		T	33584173	G	T	33584173	3	4	99	1	0	0	0	0	1	0	0	0	10056	1203	42	2	3200	2	MYH7B	20	33584173	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	1205018	33584173	29441347	77	7517											
NFATC2	4773	bcgsc.ca	37	chr20	50140461	50140461	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccgagggctcaggcccgAggcccctgctggcttggccg	4	6	16	15	3	1	0	1	0	0	0	2	3	2	0	5	5	1	3	5	5	0	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr20:50140461A>G	ENST00000396009.3	-	2	538	c.319T>C	c.(319-321)Tcg>Ccg	p.S107P	NFATC2_ENST00000371564.3_Missense_Mutation_p.S107P|NFATC2_ENST00000414705.1_Missense_Mutation_p.S87P|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.S87P|NFATC2_ENST00000609507.1_Intron	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	107					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTCAGGCCCGAGGCCCCTGCT	0.687																																					p.S107P													NFATC2,NS,carcinoma,+2,1	NFATC2	112	1	0			c.T319C												30	35	33					20																	50140461		2192	4280	6472	SO:0001583	missense	4773	exon2			GGCCCGAGGCCCC	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.319T>C	20.37:g.50140461A>G	ENSP00000379330:p.Ser107Pro		73	0	0		69	0.06	4	NM_012340	0		0	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.899578	0.00517	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.78481	-1.18;-1.18;-1.18	5.7	3.43	0.39272	.	0.204155	0.42420	D	0.000712	T	0.51075	0.1653	N	0.11064	0.09	0.27407	N	0.954675	B;B;B;B	0.13145	0.002;0.002;0.007;0.003	B;B;B;B	0.11329	0.003;0.004;0.006;0.004	T	0.41106	-0.9527	10	0.02654	T	1	-7.1738	6.4075	0.21672	0.7273:0.1341:0.1386:0.0	.	87;87;107;107	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	P	107;107;87	ENSP00000360619:S107P;ENSP00000379330:S107P;ENSP00000396471:S87P	ENSP00000360619:S107P	S	-	1	0	NFATC2	49573868	1.000000	0.71417	0.992000	0.48379	0.168000	0.22595	3.589000	0.53972	0.429000	0.26202	-0.648000	0.03929	TCG			0.687	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079730.2		NM_012340		G	50140461	A	G	50140461	3	3	99	1	0	0	0	0	1	0	0	0	10379	304	11	4	2542	4	NFATC2	20	50140461	Missense_Mutation	SNP	A	TCGA-VF-A8AC-01A-11D-A435-10	16556288	50140461	12885059	78	7518											
LSS	4047	mdanderson.org	37	chr21	47642609	47642609	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaatctcttctctgtatccGgctggcagagggatgcgtgc	7	11	12	11	2	2	1	0	0	2	1	5	2	3	2	1	3	2	3	1	3	2	2	rs11558754	byFrequency	TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr21:47642609G>T	ENST00000397728.3	-	4	441	c.363C>A	c.(361-363)gcC>gcA	p.A121A	LSS_ENST00000522411.1_Silent_p.A121A|LSS_ENST00000457828.2_Silent_p.A41A|LSS_ENST00000464357.1_5'UTR|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000356396.4_Silent_p.A121A	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	121					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CTCTGTATCCGGCTGGCAGAG	0.607																																					p.A121A	Pancreas(114;955 2313 34923 50507)												.	.			0			c.C363A												128	100	109					21																	47642609		2203	4300	6503	SO:0001819	synonymous_variant	4047	exon4			GTATCCGGCTGGC	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.363C>A	21.37:g.47642609G>T			48	0	0		50	0.06	3	NM_001145436	13	0	0	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	ENST00000397728.3	37	CCDS13733.1																																																																																					0.607	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207274.2				T	47642609	G	T	47642609	2	4	99	1	0	0	0	0	0	0	0	1	9081	1103	39	1		1	LSS	21	47642609	Silent	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		47642609	487286	79	7519											
CABIN1	23523	mdanderson.org	37	chr22	24445671	24445671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaaggactctctcagaatGttcctcaaatggtaagtcct	11	11	9	10	1	3	1	2	0	1	1	6	3	5	3	2	3	0	2	2	3	4	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr22:24445671G>T	ENST00000398319.2	+	7	1030	c.645G>T	c.(643-645)atG>atT	p.M215I	CABIN1_ENST00000405822.2_Missense_Mutation_p.M215I|CABIN1_ENST00000263119.5_Missense_Mutation_p.M215I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	215					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)			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						CTCTCAGAATGTTCCTCAAAT	0.532																																					p.M215I													.	.			0			c.G645T												99	93	95					22																	24445671		2203	4300	6503	SO:0001583	missense	23523	exon7			CAGAATGTTCCTC	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.645G>T	22.37:g.24445671G>T	ENSP00000381364:p.Met215Ile		37	0	0		29	0.1	3	NM_001201429	10	0	0	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683203	0.47991	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.62498	0.48;0.12;0.02;0.48;0.12	5.39	5.39	0.77823	.	0.036191	0.85682	N	0.000000	T	0.56247	0.1972	L	0.39898	1.24	0.80722	D	1	B;B;B;B	0.27068	0.034;0.167;0.054;0.112	B;B;B;B	0.28011	0.014;0.085;0.031;0.042	T	0.50591	-0.8810	10	0.27082	T	0.32	.	18.5963	0.91230	0.0:0.0:1.0:0.0	.	170;215;215;215	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	I	170;215;215;170;215;215	ENSP00000394209:M170I;ENSP00000263119:M215I;ENSP00000384694:M215I;ENSP00000412389:M170I;ENSP00000381364:M215I	ENSP00000263119:M215I	M	+	3	0	CABIN1	22775671	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.726000	0.98782	2.722000	0.93159	0.496000	0.49642	ATG			0.532	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320161.2		NM_012295		T	24445671	G	T	24445671	3	4	99	1	0	0	0	0	1	0	0	0	2530	1377	48	3	667	3	CABIN1	22	24445671	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10		24445671	26858895	80	7520											
HORMAD2	150280	mdanderson.org	37	chr22	30572077	30572077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgaattttgtgtgcaGtcagcaaagttctgagtgct	12	13	11	5	0	2	3	1	2	1	1	2	3	2	3	0	0	3	4	0	0	4	3			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr22:30572077G>T	ENST00000336726.6	+	11	1200	c.845G>T	c.(844-846)aGt>aTt	p.S282I	HORMAD2_ENST00000403975.1_Missense_Mutation_p.S282I	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	282					meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			TTTGTGTGCAGTCAGCAAAGT	0.403																																					p.S282I													.	.			0			c.G845T												80	81	80					22																	30572077		1881	4117	5998	SO:0001583	missense	150280	exon11			TGTGCAGTCAGCA	AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.845G>T	22.37:g.30572077G>T	ENSP00000336984:p.Ser282Ile		54	0	0		40	0.08	3	NM_152510	0		0	B5MEB2|Q8NHR2	Missense_Mutation	SNP	ENST00000336726.6	37	CCDS46683.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305344	0.23736	.	.	ENSG00000176635	ENST00000336726;ENST00000403975;ENST00000481990	T;T	0.33216	1.42;1.42	5.86	2.6	0.31112	.	0.796730	0.11879	N	0.520681	T	0.15478	0.0373	N	0.12182	0.205	0.23016	N	0.998426	B	0.12013	0.005	B	0.12156	0.007	T	0.19943	-1.0290	10	0.36615	T	0.2	-0.056	4.6985	0.12815	0.1766:0.0:0.6435:0.1799	.	282	Q8N7B1	HORM2_HUMAN	I	282;282;22	ENSP00000336984:S282I;ENSP00000385055:S282I	ENSP00000336984:S282I	S	+	2	0	HORMAD2	28902077	0.971000	0.33674	0.822000	0.32727	0.986000	0.74619	1.069000	0.30641	0.775000	0.33450	-0.157000	0.13467	AGT			0.403	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320416.2		NM_152510		T	30572077	G	T	30572077	3	4	99	1	0	0	0	0	1	0	0	0	7302	1029	36	3	883	3	HORMAD2	22	30572077	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	6126406	30572077	20732489	81	7521											
SLC16A8	23539	mdanderson.org	37	chr22	38477003	38477003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaggcgacgcagaaggCgacgagggcgccgtaggagc	10	1	19	11	7	0	1	0	0	0	1	0	6	0	2	2	4	1	2	2	4	3	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chr22:38477003C>T	ENST00000320521.5	-	4	1150	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	348					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	ACGCAGAAGGCGACGAGGGCG	0.706																																					p.A348T													.	.			0			c.G1042A												11	12	12					22																	38477003		2144	4202	6346	SO:0001583	missense	23539	exon4			AGAAGGCGACGAG	AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"Solute carriers"	16270	protein-coding gene	gene with protein product	"monocarboxylate transporter 3"	610409	"solute carrier 16 (monocarboxylic acid transporters), member 8"			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.1042G>A	22.37:g.38477003C>T	ENSP00000321735:p.Ala348Thr		16	0	0		13	0.15	2	NM_013356	0		0	Q9UBE2	Missense_Mutation	SNP	ENST00000320521.5	37	CCDS13966.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626469	0.28978	.	.	ENSG00000100156	ENST00000320521	T	0.52526	0.66	3.09	0.785	0.18584	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.737052	0.11999	N	0.509060	T	0.33440	0.0863	L	0.28192	0.835	0.26442	N	0.975752	D	0.53151	0.958	P	0.45998	0.5	T	0.16276	-1.0408	10	0.51188	T	0.08	.	3.568	0.07907	0.1541:0.4431:0.3021:0.1007	.	348	O95907	MOT3_HUMAN	T	348	ENSP00000321735:A348T	ENSP00000321735:A348T	A	-	1	0	SLC16A8	36806949	0.995000	0.38212	0.220000	0.23810	0.364000	0.29643	1.423000	0.34837	0.124000	0.18369	0.313000	0.20887	GCC			0.706	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321724.1		NM_013356		T	38477003	C	T	38477003	3	4	99	1	0	0	0	0	1	0	0	0	14437	768	27	1	480	1	SLC16A8	22	38477003	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10	7904926	38477003	12827563	82	7522											
KLHL34	257240	mdanderson.org	37	chrX	21675219	21675219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgccgcagtacgtcggCgggaaccaggccaaagcgga	10	2	15	14	7	0	0	0	0	0	0	1	2	0	2	3	4	3	2	3	4	3	1			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chrX:21675219C>T	ENST00000379499.2	-	1	1229	c.688G>A	c.(688-690)Gcc>Acc	p.A230T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	230	BACK.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGTACGTCGGCGGGAACCAGG	0.662																																					p.A230T													.	.			0			c.G688A												18	16	17					X																	21675219		2198	4287	6485	SO:0001583	missense	257240	exon1			CGTCGGCGGGAAC	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.688G>A	X.37:g.21675219C>T	ENSP00000368813:p.Ala230Thr		30	0	0		39	0.08	3	NM_153270	0		0		Missense_Mutation	SNP	ENST00000379499.2	37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	1.782	-0.481753	0.04383	.	.	ENSG00000185915	ENST00000379499	T	0.68903	-0.36	4.65	1.67	0.24075	BTB/Kelch-associated (2);	0.472426	0.21996	N	0.066066	T	0.52661	0.1748	L	0.50333	1.59	0.09310	N	1	P	0.43412	0.806	B	0.33620	0.167	T	0.44682	-0.9312	10	0.41790	T	0.15	.	10.2094	0.43132	0.0:0.5608:0.3557:0.0835	.	230	Q8N239	KLH34_HUMAN	T	230	ENSP00000368813:A230T	ENSP00000368813:A230T	A	-	1	0	KLHL34	21585140	0.025000	0.19082	0.001000	0.08648	0.027000	0.11550	0.865000	0.27940	0.391000	0.25143	0.422000	0.28245	GCC			0.662	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056022.1		NM_153270		T	21675219	C	T	21675219	3	4	99	1	0	0	0	0	1	0	0	0	8402	768	27	1	1250	1	KLHL34	23	21675219	Missense_Mutation	SNP	C	TCGA-VF-A8AC-01A-11D-A435-10		21675219	133595341	83	7523											
PCYT1B	9468	mdanderson.org	37	chrX	24605360	24605360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggggaatgcctcacctGcttcctttatgtgcttgtaa	8	13	9	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	3	3	2	3	5			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chrX:24605360G>T	ENST00000379144.2	-	5	693	c.563C>A	c.(562-564)gCa>gAa	p.A188E	PCYT1B_ENST00000379145.1_Missense_Mutation_p.A170E|PCYT1B_ENST00000356768.4_Missense_Mutation_p.A188E	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	188					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGCCTCACCTGCTTCCTTTAT	0.453																																					p.A188E													.	.			0			c.C563A												144	100	115					X																	24605360		2203	4300	6503	SO:0001583	missense	9468	exon5			TCACCTGCTTCCT	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.563C>A	X.37:g.24605360G>T	ENSP00000368439:p.Ala188Glu		29	0.0344827586	1		39	0.08	3	NM_001163265	0		0	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125635	0.56721	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96774	-4.12;-4.12;-4.12	5.16	5.16	0.70880	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.93291	0.7862	L	0.39633	1.23	0.80722	D	1	B;B;P	0.35155	0.004;0.019;0.487	B;B;B	0.32393	0.018;0.021;0.145	D	0.92284	0.5836	10	0.26408	T	0.33	0.4578	17.8036	0.88595	0.0:0.0:1.0:0.0	.	188;170;188	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	E	170;188;188	ENSP00000368440:A170E;ENSP00000368439:A188E;ENSP00000349211:A188E	ENSP00000349211:A188E	A	-	2	0	PCYT1B	24515281	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.263000	0.95617	2.392000	0.81423	0.523000	0.50628	GCA			0.453	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056103.1		NM_004845		T	24605360	G	T	24605360	3	4	99	1	0	0	0	0	1	0	0	0	11628	1319	46	2	599	2	PCYT1B	23	24605360	Missense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	2930141	24605360	130665200	84	7524											
RGAG1	57529	hgsc.bcm.edu;mdanderson.org	37	chrX	109694020	109694020	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacttcagcctcagaccctGgagggacatccacacagttg	11	7	9	14	0	2	1	2	0	0	1	3	3	3	3	3	2	2	1	3	2	1	2			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chrX:109694020G>T	ENST00000465301.2	+	3	421	c.175G>T	c.(175-177)Gga>Tga	p.G59*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.G59*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	59										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCAGACCCTGGAGGGACATC	0.493											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G59X													.	.			0			c.G175T												239	200	213					X																	109694020		2203	4300	6503	SO:0001587	stop_gained	57529	exon3			GACCCTGGAGGGA	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.175G>T	X.37:g.109694020G>T	ENSP00000419786:p.Gly59*		94	0	0	1421	102	0.05	5	NM_020769	1	0	0	Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210791	0.39102	.	.	ENSG00000243978	ENST00000520821;ENST00000465301;ENST00000540313;ENST00000540483	.	.	.	4.16	4.16	0.48862	.	0.451157	0.16490	N	0.212145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7272	10.762	0.46270	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	.	G	+	1	0	RGAG1	109580676	0.998000	0.40836	0.255000	0.24374	0.134000	0.20937	3.210000	0.51129	2.302000	0.77476	0.600000	0.82982	GGA			0.493	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057906.2		NM_020769		T	109694020	G	T	109694020	4	4	99	1	0	0	0	0	0	1	0	0	13297	1349	47	3	177	3	RGAG1	23	109694020	Nonsense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	85088660	109694020	45576540	85	7525											
TKTL1	8277	broad.mit.edu;mdanderson.org	37	chrX	153540936	153540936	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttcattacaggtattGaggatgcagaaagttggcat	11	15	11	4	0	1	2	1	1	0	1	1	3	1	3	0	3	2	5	0	3	3	6			TCGA-VF-A8AC-01A-11D-A435-10	TCGA-VF-A8AC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89c25d23-5322-45d9-9ac6-b3c110504481	47b52d7b-baa4-46ba-ac7c-c6cc2deaaaf7	g.chrX:153540936G>T	ENST00000369915.3	+	6	865	c.676G>T	c.(676-678)Gag>Tag	p.E226*	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Nonsense_Mutation_p.E170*	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	226					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					TACAGGTATTGAGGATGCAGA	0.403																																					p.E226X													.	TKTL1	61		0			c.G676T												102	87	92					X																	153540936		2203	4300	6503	SO:0001587	stop_gained	8277	exon6			GGTATTGAGGATG	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.676G>T	X.37:g.153540936G>T	ENSP00000358931:p.Glu226*		91	0	0		80	0.06	5	NM_012253	8	0	0	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Nonsense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952870	0.92660	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000369912	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-35.3718	15.1868	0.73009	0.0:0.0:1.0:0.0	.	.	.	.	X	226;170;170	.	ENSP00000358928:E170X	E	+	1	0	TKTL1	153194130	1.000000	0.71417	0.619000	0.29118	0.377000	0.30045	7.315000	0.78998	2.089000	0.63090	0.411000	0.27672	GAG			0.403	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058923.1		NM_012253		T	153540936	G	T	153540936	4	4	99	1	0	0	0	0	0	1	0	0	15958	1291	45	3	698	3	TKTL1	23	153540936	Nonsense_Mutation	SNP	G	TCGA-VF-A8AC-01A-11D-A435-10	43846916	153540936	1729624	86	7526											
MACF1	23499	broad.mit.edu	37	chr1	39801169	39801169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaccaatgaatgctcGggtgaaaagtaagagagaga	17	5	13	6	1	0	4	0	2	0	2	1	6	0	4	1	1	3	4	1	1	6	1	rs530899566		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr1:39801169G>T	ENST00000372915.3	+	36	9011	c.8924G>T	c.(8923-8925)cGg>cTg	p.R2975L	MACF1_ENST00000567887.1_Missense_Mutation_p.R3007L|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.R2970L|MACF1_ENST00000289893.4_Missense_Mutation_p.R1410L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2975					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)			ATGAATGCTCGGGTGAAAAGT	0.403													G|||	1	0.000199681	0	0	5008	,	,		18948	0.001		0	False		,,,				2504	0				.													.	MACF1	909		0			.												58	60	59					1																	39801169		2203	4300	6503	SO:0001583	missense	23499	.			ATGCTCGGGTGAA	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.8924G>T	1.37:g.39801169G>T	ENSP00000362006:p.Arg2975Leu		370	0.0027027027	1		377	0.02	7	.	0		0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	2.225	-0.377522	0.05000	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.62941	-0.01;1.06	5.2	-4.53	0.03462	.	1.893250	0.02523	N	0.092793	T	0.44829	0.1312	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.15484	0.013	T	0.31503	-0.9941	10	0.42905	T	0.14	.	6.0973	0.20027	0.5452:0.2675:0.1873:0.0	.	2975	Q9UPN3	MACF1_HUMAN	L	2975;1410	ENSP00000362006:R2975L;ENSP00000289893:R1410L	ENSP00000289893:R1410L	R	+	2	0	MACF1	39573756	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.156000	0.10100	-0.577000	0.05967	-0.373000	0.07131	CGG			0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding		OTTHUMT00000392096.1		NM_033044		T	39801169	G	T	39801169	3	4	100	1	0	0	0	0	1	0	0	0	9160	1116	39	1	9000	1	MACF1	1	39801169	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		39801169	209449452	1	7527											
CYP4Z1	199974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	47533216	47533216	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccccttcttgctgctgatCctcctctgcatgtctctgct	3	15	6	17	0	3	1	0	1	3	0	6	1	5	1	4	0	4	4	4	0	0	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr1:47533216C>A	ENST00000334194.3	+	1	57	c.54C>A	c.(52-54)atC>atA	p.I18I		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	18						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGCTGCTGATCCTCCTCTGCA	0.562																																					p.I18I													.	.			0			c.C54A												71	64	66					1																	47533216		2203	4297	6500	SO:0001819	synonymous_variant	199974	exon1			GCTGATCCTCCTC	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.54C>A	1.37:g.47533216C>A			110	0	0		117	0.32	37	NM_178134	0		0	Q5VVE4	Silent	SNP	ENST00000334194.3	37	CCDS545.1																																																																																					0.562	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022020.1		NM_178134		A	47533216	C	A	47533216	2	1	100	1	0	0	0	0	0	0	0	1	4196	845	30	3		3	CYP4Z1	1	47533216	Silent	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	7732047	47533216	201717405	2	7528											
ANKRD13C	81573	broad.mit.edu	37	chr1	70820000	70820000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccgccgagggcagccGccgcttcctcatccccgggc	5	5	13	18	5	1	0	1	0	0	0	3	1	3	0	7	3	2	3	7	3	1	2	rs541837487		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr1:70820000G>A	ENST00000370944.4	-	1	405	c.92C>T	c.(91-93)gCg>gTg	p.A31V	HHLA3_ENST00000361764.4_5'Flank|HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000359875.5_5'Flank|HHLA3_ENST00000370940.5_5'Flank|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.A31V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	31	Poly-Ala.				protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GAGGGCAGCCGCCGCTTCCTC	0.612																																					p.A31V													.	ANKRD13C	36		0			c.C92T												34	42	39					1																	70820000		2197	4292	6489	SO:0001583	missense	81573	exon1			GCAGCCGCCGCTT		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.92C>T	1.37:g.70820000G>A	ENSP00000359982:p.Ala31Val		75	0	0		77	0.05	4	NM_030816	15	0	0	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594978	0.66219	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.51071	0.9;0.72	3.93	2.98	0.34508	.	0.141128	0.49305	D	0.000156	T	0.17746	0.0426	L	0.29908	0.895	0.35487	D	0.798625	P;P;B	0.50066	0.516;0.931;0.043	B;B;B	0.38880	0.039;0.284;0.01	T	0.02431	-1.1160	10	0.34782	T	0.22	-6.9754	11.8367	0.52327	0.0:0.0:0.823:0.177	.	31;31;31	Q8N6S4-2;Q8N6S4-3;Q8N6S4	.;.;AN13C_HUMAN	V	31	ENSP00000359982:A31V;ENSP00000262346:A31V	ENSP00000262346:A31V	A	-	2	0	ANKRD13C	70592588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.498000	0.73679	0.941000	0.37499	0.462000	0.41574	GCG			0.612	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025903.1		NM_030816		A	70820000	G	A	70820000	3	1	100	1	0	0	0	0	1	0	0	0	643	1087	38	1	1585	1	ANKRD13C	1	70820000	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	23286784	70820000	178430621	3	7529											
WDR63	126820	mdanderson.org	37	chr1	85573731	85573731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttagcacaatatgtttttgGgatattagaccacagaaacc	14	13	7	7	0	0	2	0	0	0	2	0	3	0	3	2	1	2	2	2	1	6	7			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr1:85573731G>T	ENST00000294664.6	+	15	1749	c.1569G>T	c.(1567-1569)tgG>tgT	p.W523C	WDR63_ENST00000370596.1_Missense_Mutation_p.W484C|WDR63_ENST00000326813.8_Missense_Mutation_p.W484C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	523										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATGTTTTTGGGATATTAGAC	0.328																																					p.W523C													.	.			0			c.G1569T												53	51	52					1																	85573731		2202	4299	6501	SO:0001583	missense	126820	exon15			TTTTTGGGATATT		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1569G>T	1.37:g.85573731G>T	ENSP00000294664:p.Trp523Cys		63	0	0		40	0.08	3	NM_145172	0		0	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386585	0.61956	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	D;D;D	0.83506	-1.73;-1.73;-1.73	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.120190	0.64402	D	0.000008	D	0.91885	0.7431	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93108	0.6514	10	0.87932	D	0	-13.3607	16.5041	0.84264	0.0:0.0:1.0:0.0	.	484;523	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	C	484;484;523	ENSP00000359628:W484C;ENSP00000317463:W484C;ENSP00000294664:W523C	ENSP00000294664:W523C	W	+	3	0	WDR63	85346319	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.790000	0.69038	2.610000	0.88304	0.650000	0.86243	TGG			0.328	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027565.2		NM_145172		T	85573731	G	T	85573731	3	4	100	1	0	0	0	0	1	0	0	0	17338	1241	43	3	1623	3	WDR63	1	85573731	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	14753731	85573731	163676890	4	7530											
SLC27A3	11000	broad.mit.edu	37	chr1	153750946	153750946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctttccccagcatatctTccccttctccttgattcgct	4	16	3	18	1	2	1	0	1	2	0	7	1	5	1	6	0	1	2	6	0	1	6			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr1:153750946T>C	ENST00000368661.3	+	6	1570	c.1505T>C	c.(1504-1506)tTc>tCc	p.F502S	SLC27A3_ENST00000271857.2_Missense_Mutation_p.F583S|SLC27A3_ENST00000484014.1_Intron	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	502					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCATATCTTCCCCTTCTCC	0.562																																					p.F502S													.	SLC27A3	42		0			c.T1505C												123	119	120					1																	153750946		2203	4300	6503	SO:0001583	missense	11000	exon6			ATATCTTCCCCTT	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1505T>C	1.37:g.153750946T>C	ENSP00000357650:p.Phe502Ser		197	0	0		236	0.02	5	NM_024330	68	0	0	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	CCDS1053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.922|8.922	0.961355|0.961355	0.18583|0.18583	.|.	.|.	ENSG00000143554|ENSG00000143554	ENST00000271857;ENST00000368661;ENST00000532853|ENST00000458027	T;T;T|.	0.48522|.	1.08;1.08;0.81|.	5.28|5.28	4.13|4.13	0.48395|0.48395	AMP-dependent synthetase/ligase (1);|.	0.219350|.	0.41605|.	D|.	0.000854|.	T|T	0.20700|0.20700	0.0498|0.0498	L|L	0.39326|0.39326	1.205|1.205	0.29878|0.29878	N|N	0.82628|0.82628	B|.	0.25048|.	0.117|.	B|.	0.32393|.	0.145|.	T|T	0.09662|0.09662	-1.0664|-1.0664	10|5	0.33141|.	T|.	0.24|.	-23.0409|-23.0409	6.3314|6.3314	0.21272|0.21272	0.0:0.1111:0.0:0.8889|0.0:0.1111:0.0:0.8889	.|.	502|.	Q5K4L6|.	S27A3_HUMAN|.	S|P	583;502;56|207	ENSP00000271857:F583S;ENSP00000357650:F502S;ENSP00000433959:F56S|.	ENSP00000271857:F583S|.	F|S	+|+	2|1	0|0	SLC27A3|SLC27A3	152017570|152017570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.658000|0.658000	0.38924|0.38924	3.263000|3.263000	0.51546|0.51546	2.217000|2.217000	0.71921|0.71921	0.379000|0.379000	0.24179|0.24179	TTC|TCC			0.562	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_024330		C	153750946	T	C	153750946	3	2	100	1	0	0	0	0	1	0	0	0	14550	1783	62	4	1527	4	SLC27A3	1	153750946	Missense_Mutation	SNP	T	TCGA-VF-A8AD-01A-11D-A435-10	68177215	153750946	95499675	5	7531											
IRF6	3664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	209968742	209968742	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcattatccttctcatccCagggagcagaccctgtggat	9	11	8	13	0	2	1	2	0	1	1	5	3	4	3	3	2	1	1	3	2	1	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr1:209968742C>T	ENST00000367021.3	-	5	573	c.401G>A	c.(400-402)tGg>tAg	p.W134*	IRF6_ENST00000542854.1_Nonsense_Mutation_p.W39*	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	134					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTCTCATCCCAGGGAGCAGA	0.537										HNSCC(57;0.16)																											p.W134X													.	.			0			c.G401A												222	168	186					1																	209968742		2203	4300	6503	SO:0001587	stop_gained	3664	exon5			TCATCCCAGGGAG	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.401G>A	1.37:g.209968742C>T	ENSP00000355988:p.Trp134*		83	0	0		90	0.14	13	NM_006147	18	0.06	1	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Nonsense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	38	7.000538	0.97994	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	5.4	5.4	0.78164	.	0.235456	0.47093	D	0.000251	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1858	0.93644	0.0:1.0:0.0:0.0	.	.	.	.	X	134;39;134	.	.	W	-	2	0	IRF6	208035365	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.451000	0.66632	2.531000	0.85337	0.655000	0.94253	TGG			0.537	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088827.1		NM_006147		T	209968742	C	T	209968742	4	4	100	1	0	0	0	0	0	1	0	0	7849	595	21	3	1022	3	IRF6	1	209968742	Nonsense_Mutation	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	56217796	209968742	39281879	6	7532											
ERO1LB	56605	broad.mit.edu	37	chr1	236416763	236416763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtcttttattgaacagtGgccatcttctgcccagaaag	11	12	8	10	0	3	2	0	1	3	1	3	2	3	2	2	1	2	0	2	1	3	4			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr1:236416763G>T	ENST00000354619.5	-	3	466	c.265C>A	c.(265-267)Cac>Aac	p.H89N	ERO1LB_ENST00000327333.8_Missense_Mutation_p.H89N	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	89					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|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)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	ATTGAACAGTGGCCATCTTCT	0.383																																					p.H89N													.	ERO1LB	48		0			c.C265A												61	56	58					1																	236416763		2203	4300	6503	SO:0001583	missense	56605	exon3			AACAGTGGCCATC	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.265C>A	1.37:g.236416763G>T	ENSP00000346635:p.His89Asn		204	0	0		263	0.02	6	NM_019891	4	0	0	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527480	0.64860	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	T;T	0.42131	0.98;0.98	5.65	5.65	0.86999	.	0.163685	0.53938	D	0.000055	T	0.48409	0.1498	M	0.70595	2.14	0.80722	D	1	P;B	0.43231	0.801;0.076	B;B	0.40741	0.339;0.102	T	0.52924	-0.8510	10	0.52906	T	0.07	-6.4565	18.4833	0.90819	0.0:0.0:1.0:0.0	.	89;89	B4DF57;Q86YB8	.;ERO1B_HUMAN	N	89	ENSP00000346635:H89N;ENSP00000377574:H89N	ENSP00000377574:H89N	H	-	1	0	ERO1LB	234483386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.009000	0.93606	2.662000	0.90505	0.561000	0.74099	CAC			0.383	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096371.1		NM_019891		T	236416763	G	T	236416763	3	4	100	1	0	0	0	0	1	0	0	0	5247	1348	47	3	1194	3	ERO1LB	1	236416763	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	26448021	236416763	12833858	7	7533											
SDCCAG8	10806	mdanderson.org	37	chr1	243471336	243471336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgtgaagatcttaaagaGcaactaaagcataaagaatt	19	10	7	5	0	1	4	0	1	1	3	1	4	1	4	0	0	3	2	0	0	9	5			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr1:243471336G>T	ENST00000366541.3	+	8	904	c.786G>T	c.(784-786)gaG>gaT	p.E262D	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E219D|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.E262D|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E117D	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	262	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATCTTAAAGAGCAACTAAAGC	0.363																																					p.E262D													SDCCAG8,NS,carcinoma,0,2	SDCCAG8	0	2	0			c.G786T												157	144	149					1																	243471336		2203	4300	6503	SO:0001583	missense	10806	exon8			TAAAGAGCAACTA	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.786G>T	1.37:g.243471336G>T	ENSP00000355499:p.Glu262Asp		124	0	0		119	0.04	5	NM_006642	14	0	0	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318805	0.23994	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.6	1.58	0.23477	.	0.914449	0.09629	N	0.776466	T	0.20373	0.0490	L	0.60455	1.87	0.19300	N	0.99998	P;B	0.36837	0.571;0.288	B;B	0.28139	0.085;0.086	T	0.17167	-1.0378	10	0.19590	T	0.45	-0.1213	8.3062	0.32045	0.4686:0.0:0.5314:0.0	.	219;262	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	D	219;262;262;117;42	ENSP00000348137:E219D;ENSP00000375721:E262D;ENSP00000355499:E262D;ENSP00000341260:E117D;ENSP00000410200:E42D	ENSP00000341260:E117D	E	+	3	2	SDCCAG8	241537959	0.965000	0.33210	0.269000	0.24586	0.971000	0.66376	0.676000	0.25247	0.107000	0.17824	-0.145000	0.13849	GAG			0.363	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096485.1		NM_006642		T	243471336	G	T	243471336	3	4	100	1	0	0	0	0	1	0	0	0	13982	962	34	2	816	2	SDCCAG8	1	243471336	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	7054573	243471336	5779285	8	7534											
KCNK3	3777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	26950833	26950833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcctactactactgcttCatcaccctcaccaccatcgg	9	9	5	18	1	3	0	3	0	0	0	4	0	3	0	4	2	4	1	4	2	3	4			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr2:26950833C>T	ENST00000302909.3	+	2	707	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	194					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	ACTACTGCTTCATCACCCTCA	0.612																																					p.F194F	GBM(80;1457 1631 27100 45946)												.	.			0			c.C582T												71	63	66					2																	26950833		2203	4300	6503	SO:0001819	synonymous_variant	3777	exon2			CTGCTTCATCACC	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.582C>T	2.37:g.26950833C>T			150	0	0		184	0.19	35	NM_002246	5	0.4	2	Q53SU2	Silent	SNP	ENST00000302909.3	37	CCDS1727.1																																																																																					0.612	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246861.2		NM_002246		T	26950833	C	T	26950833	2	4	100	1	0	0	0	0	0	0	0	1	8082	825	29	3		3	KCNK3	2	26950833	Silent	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10		26950833	216248540	9	7535											
FER1L5	90342	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	97363297	97363297	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacagaaagttctggttcaAgtccagtaaagcagaggtga	14	9	11	7	0	2	3	1	1	1	2	3	3	3	3	1	2	2	4	1	2	5	4			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr2:97363297A>T	ENST00000457909.1	+	0	3621							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TTCTGGTTCAAGTCCAGTAAA	0.552																																					p.K1400M													.	FER1L5	113		0			c.A4199T												48	49	49					2																	97363297		1952	4134	6086			90342	exon37			GGTTCAAGTCCAG	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97363297A>T			285	0	0		287	0.03	9	NM_001113382	0		0	Q17RH2|Q6ZU24	RNA	SNP	ENST00000457909.1	37		.	.	.	.	.	.	.	.	.	.	A	4.670	0.124622	0.08931	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	3.5	2.35	0.29111	C2 calcium/lipid-binding domain, CaLB (1);	1947.010000	0.00531	U	0.000218	T	0.46190	0.1380	L	0.57536	1.79	.	.	.	B;B;B	0.18166	0.015;0.017;0.026	B;B;B	0.14023	0.004;0.003;0.01	T	0.21965	-1.0230	8	0.44086	T	0.13	4.8603	5.4845	0.16741	0.8722:0.0:0.1278:0.0	.	117;1400;118	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	M	1400;1414;118	.	ENSP00000442027:K118M	K	+	2	0	FER1L5	96727024	0.428000	0.25522	0.504000	0.27639	0.207000	0.24258	1.034000	0.30204	0.715000	0.32103	0.460000	0.39030	AAG			0.552	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene		OTTHUMT00000339030.1		NM_001077400		T	97363297	A	T	97363297	1	4	100	0	1	0	0	0	0	0	0	0	5827	72	3	5		5	FER1L5	2	97363297	RNA	SNP	A	TCGA-VF-A8AD-01A-11D-A435-10	70412464	97363297	145836076	10	7536											
RGPD4	285190	hgsc.bcm.edu	37	chr2	108443536	108443536	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agggctccgccccgtcgcctCgaaaggtgagtggatctcga	7	7	14	13	5	1	1	0	1	1	0	5	4	2	2	4	3	0	1	4	3	1	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr2:108443536C>G	ENST00000408999.3	+	1	144	c.67C>G	c.(67-69)Cga>Gga	p.R23G	RGPD4_ENST00000354986.4_Missense_Mutation_p.R23G|AC096655.2_ENST00000457647.2_lincRNA	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	23					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCCGTCGCCTCGAAAGGTGAG	0.701																																					p.R23G													RGPD4,caecum,carcinoma,-1,1	RGPD4	-1	1	0			c.C67G												44	61	56					2																	108443536		692	1591	2283	SO:0001583	missense	285190	exon1			TCGCCTCGAAAGG	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.67C>G	2.37:g.108443536C>G	ENSP00000386810:p.Arg23Gly		133	0	0		116	0.03	4	NM_182588	0		0	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.319	-0.963323	0.02249	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.41065	1.01;1.01	2.33	1.42	0.22433	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.22666	0.0547	L	0.33485	1.01	0.09310	N	1	D	0.52996	0.957	B	0.30251	0.113	T	0.10109	-1.0644	9	0.51188	T	0.08	-2.4203	7.0687	0.25167	0.4799:0.5201:0.0:0.0	.	23	Q7Z3J3	RGPD4_HUMAN	G	23	ENSP00000347081:R23G;ENSP00000386810:R23G	ENSP00000347081:R23G	R	+	1	2	RGPD4	107809968	0.670000	0.27512	0.021000	0.16686	0.002000	0.02628	0.784000	0.26816	0.094000	0.17404	-1.276000	0.01395	CGA			0.701	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330096.2		XM_496581		G	108443536	C	G	108443536	3	3	100	1	0	0	0	0	1	0	0	0	13311	876	31	5	69	5	RGPD4	2	108443536	Missense_Mutation	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	11080239	108443536	134755837	11	7537											
MST1	327	hgsc.bcm.edu;broad.mit.edu	37	chr3	49723603	49723603	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagccgtcggggttccGgcagaagttctcccgaaggt	6	9	14	12	4	2	2	0	1	2	1	5	3	3	2	3	4	1	3	3	4	2	2	rs199969873	byFrequency	TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R347W	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	8e-04	0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001				p.R347W													MST1,NS,carcinoma,0,5	MST1	0	5	5	Substitution - Missense(5)	endometrium(4)|skin(1)	c.C1039T																																									SO:0001628	intergenic_variant	4485	exon9			GGTTCCGGCAGAA	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A			75	0.0133333333	1		49	0.12	6	NM_020998	8	0	0	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG	0.005		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346415.2				A	49723603	G	A	49723603	1	1	100	0	1	0	0	0	0	0	0	0	9906	1115	39	1		1	MST1	3	49723603	IGR	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		49723603	148298827	12	7538											
TLR9	54106	mdanderson.org	37	chr3	52256987	52256987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagcaaggtccccaggctGcagccagaccttctcccctc	7	6	10	18	1	1	1	0	0	1	1	4	2	2	2	6	3	3	3	6	3	1	1	rs373748615		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr3:52256987G>T	ENST00000360658.2	-	2	1978	c.1345C>A	c.(1345-1347)Cag>Aag	p.Q449K	TLR9_ENST00000597542.1_Missense_Mutation_p.Q473K|TLR9_ENST00000494383.1_Missense_Mutation_p.A602E	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	449					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 toll-like receptor signaling pathway (GO:0034122)|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-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|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 JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|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)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TCCCCAGGCTGCAGCCAGACC	0.627																																					p.Q449K													.	.			0			c.C1345A												69	70	69					3																	52256987		2203	4300	6503	SO:0001583	missense	54106	exon2			CAGGCTGCAGCCA	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1345C>A	3.37:g.52256987G>T	ENSP00000353874:p.Gln449Lys		81	0	0		44	0.07	3	NM_017442	3	0	0	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.79|11.79	1.742378|1.742378	0.30865|0.30865	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.26810	.|1.71	5.23|5.23	-0.621|-0.621	0.11564|0.11564	.|.	.|2.137540	.|0.02527	.|N	.|0.093234	T|T	0.17831|0.17831	0.0428|0.0428	L|L	0.33339|0.33339	1.005|1.005	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18610	.|0.029;0.003	.|B;B	.|0.14023	.|0.01;0.006	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.29301	.|T	.|0.29	.|.	2.0246|2.0246	0.03516|0.03516	0.2072:0.2263:0.436:0.1306|0.2072:0.2263:0.436:0.1306	.|.	.|546;449	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	E|K	602|449	.|ENSP00000353874:Q449K	.|ENSP00000353874:Q449K	A|Q	-|-	2|1	0|0	RP11-330H6.5|TLR9	52232027|52232027	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.287000|0.287000	0.27160|0.27160	-0.087000|-0.087000	0.11215|0.11215	-0.348000|-0.348000	0.08286|0.08286	0.655000|0.655000	0.94253|0.94253	GCA|CAG			0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000350203.1				T	52256987	G	T	52256987	3	4	100	1	0	0	0	0	1	0	0	0	15981	1328	46	2	1757	2	TLR9	3	52256987	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	2533384	52256987	145765443	13	7539											
DPPA4	55211	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	109047903	109047903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatctgtgtctgcagggaGacttttcccatggaccacac	9	10	9	13	0	2	1	0	0	2	1	3	3	3	2	3	2	1	1	3	2	0	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr3:109047903G>A	ENST00000335658.6	-	6	766	c.712C>T	c.(712-714)Ctc>Ttc	p.L238F	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	238					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TCTGCAGGGAGACTTTTCCCA	0.512																																					p.L238F													.	DPPA4	56		0			c.C712T												61	57	59					3																	109047903		2203	4300	6503	SO:0001583	missense	55211	exon6			CAGGGAGACTTTT	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.712C>T	3.37:g.109047903G>A	ENSP00000335306:p.Leu238Phe		362	0	0		348	0.03	10	NM_018189	1072	0.06	67	A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461392	0.63513	.	.	ENSG00000121570	ENST00000335658	T	0.28454	1.61	4.91	2.11	0.27256	.	0.251277	0.28683	N	0.014493	T	0.36826	0.0981	L	0.43152	1.355	0.28188	N	0.927863	D	0.58268	0.982	P	0.62740	0.906	T	0.12243	-1.0555	10	0.72032	D	0.01	-13.666	3.905	0.09178	0.1954:0.0:0.6134:0.1912	.	238	Q7L190	DPPA4_HUMAN	F	238	ENSP00000335306:L238F	ENSP00000335306:L238F	L	-	1	0	DPPA4	110530593	0.972000	0.33761	0.959000	0.39883	0.976000	0.68499	0.662000	0.25038	0.755000	0.32990	0.467000	0.42956	CTC			0.512	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353897.1	rescued with RNA-seq	NM_018189		A	109047903	G	A	109047903	3	1	100	1	0	0	0	0	1	0	0	0	4741	942	33	3	210	3	DPPA4	3	109047903	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	56790916	109047903	88974527	14	7540											
CPZ	8532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	8621216	8621216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggaggtgccagctctttgGgggaggccacggagcccgac	6	6	18	11	2	1	0	0	0	1	0	1	4	1	3	3	6	3	1	3	6	0	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr4:8621216G>C	ENST00000360986.4	+	11	2005	c.1831G>C	c.(1831-1833)Ggg>Cgg	p.G611R	CPZ_ENST00000429646.2_Missense_Mutation_p.G219R|CPZ_ENST00000382480.2_Missense_Mutation_p.G474R|CPZ_ENST00000315782.6_Missense_Mutation_p.G600R	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	611					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						CAGCTCTTTGGGGGAGGCCAC	0.657																																					p.G611R													.	.			0			c.G1831C												36	39	38					4																	8621216		2203	4300	6503	SO:0001583	missense	8532	exon11			TCTTTGGGGGAGG	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.1831G>C	4.37:g.8621216G>C	ENSP00000354255:p.Gly611Arg		136	0	0		127	0.24	30	NM_001014447	12	0	0	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	5.993	0.367225	0.11352	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.56941	0.76;2.14;0.43;2.03	4.66	-0.271	0.12922	.	7.547470	0.01092	N	0.005208	T	0.30479	0.0766	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.09100	-1.0690	10	0.18710	T	0.47	.	4.6872	0.12764	0.3631:0.1511:0.4858:0.0	.	600;611	Q66K79-2;Q66K79	.;CBPZ_HUMAN	R	611;474;600;219	ENSP00000354255:G611R;ENSP00000371920:G474R;ENSP00000315074:G600R;ENSP00000403981:G219R	ENSP00000315074:G600R	G	+	1	0	CPZ	8672116	0.469000	0.25846	0.000000	0.03702	0.043000	0.13939	2.726000	0.47302	-0.482000	0.06782	0.456000	0.33151	GGG			0.657	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207001.4		NM_003652		C	8621216	G	C	8621216	3	2	100	1	0	0	0	0	1	0	0	0	3841	1232	43	5	1873	5	CPZ	4	8621216	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		8621216	182533060	15	7541											
UGT2B10	7365	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	69682264	69682264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtcacagcttcagtcctgGctactcatttgaaaggcaca	11	10	8	12	0	3	1	3	1	0	0	4	1	4	1	1	2	2	3	1	2	2	3			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr4:69682264G>C	ENST00000265403.7	+	1	554	c.527G>C	c.(526-528)gGc>gCc	p.G176A	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	176					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTCAGTCCTGGCTACTCATTT	0.418																																					.	Melanoma(133;755 1763 25578 26334 46021)												.	UGT2B10	134		0			.												139	136	137					4																	69682264		2202	4298	6500	SO:0001583	missense	7365	.			GTCCTGGCTACTC	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.527G>C	4.37:g.69682264G>C	ENSP00000265403:p.Gly176Ala		357	0	0		264	0.03	8	.	0		0	A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37		.	.	.	.	.	.	.	.	.	.	g	9.141	1.013927	0.19277	.	.	ENSG00000109181	ENST00000265403	T	0.60797	0.16	2.63	2.63	0.31362	.	0.193851	0.33040	U	0.005348	T	0.49898	0.1584	L	0.35414	1.06	0.58432	D	0.999995	P	0.48503	0.911	P	0.51297	0.665	T	0.39742	-0.9599	10	0.09590	T	0.72	.	10.7026	0.45937	0.0:0.0:1.0:0.0	.	176	P36537	UDB10_HUMAN	A	176	ENSP00000265403:G176A	ENSP00000265403:G176A	G	+	2	0	UGT2B10	69716853	1.000000	0.71417	0.006000	0.13384	0.008000	0.06430	3.717000	0.54911	1.309000	0.44985	0.184000	0.17185	GGC			0.418	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000365169.1		NM_001075		C	69682264	G	C	69682264	3	2	100	1	0	0	0	0	1	0	0	0	16980	1203	42	5	529	5	UGT2B10	4	69682264	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	61061048	69682264	121472012	16	7542											
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	126240963	126240963	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaagactttgggccaaatGgagaagtaaggtattctttt	14	13	10	4	0	1	2	0	0	1	2	1	3	1	2	1	3	0	2	1	3	6	7			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr4:126240963G>T	ENST00000394329.3	+	1	3410	c.3397G>T	c.(3397-3399)Gga>Tga	p.G1133*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1133	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGGCCAAATGGAGAAGTAAG	0.413																																					p.G1133X													.	.			0			c.G3397T												175	173	173					4																	126240963		1877	4113	5990	SO:0001587	stop_gained	79633	exon1			CCAAATGGAGAAG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3397G>T	4.37:g.126240963G>T	ENSP00000377862:p.Gly1133*		96	0	0		114	0.21	24	NM_024582	0		0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	42	9.526279	0.99195	.	.	ENSG00000196159	ENST00000394329	.	.	.	4.87	4.87	0.63330	.	0.000000	0.34200	U	0.004164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.1824	0.89782	0.0:0.0:1.0:0.0	.	.	.	.	X	1133	.	ENSP00000377862:G1133X	G	+	1	0	FAT4	126460413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.899000	0.75682	2.525000	0.85131	0.462000	0.41574	GGA			0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256765.2		NM_024582		T	126240963	G	T	126240963	4	4	100	1	0	0	0	0	0	1	0	0	5705	1349	47	3	3399	3	FAT4	4	126240963	Nonsense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	56558699	126240963	64913313	17	7543											
PPID	5481	mdanderson.org	37	chr4	159632000	159632000	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgggtctagttcaagagCctacaaaaaagtataaagct	16	10	9	6	0	2	2	1	1	1	1	2	2	2	2	1	1	3	3	1	1	9	5	rs574999524		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr4:159632000C>T	ENST00000307720.3	-	8	1002	c.895G>A	c.(895-897)Gct>Act	p.A299T		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	299	Interaction with HSP90AB1. {ECO:0000250}.				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)		AGTTCAAGAGCCTACAAAAAA	0.358																																					p.A299T													.	.			0			c.G895A												107	115	113					4																	159632000		2202	4300	6502	SO:0001630	splice_region_variant	5481	exon8			CAAGAGCCTACAA		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.895-1G>A	4.37:g.159632000C>T			103	0	0		82	0.05	4	NM_005038	123	0	0	B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026150	0.93518	.	.	ENSG00000171497	ENST00000307720	T	0.74106	-0.81	4.4	4.4	0.53042	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.39615	N	0.001319	D	0.87063	0.6084	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.89738	0.3931	10	0.87932	D	0	-10.7797	17.8682	0.88803	0.0:1.0:0.0:0.0	.	299	Q08752	PPID_HUMAN	T	299	ENSP00000303754:A299T	ENSP00000303754:A299T	A	-	1	0	PPID	159851450	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	6.657000	0.74402	2.375000	0.81037	0.585000	0.79938	GCT			0.358	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366436.1		NM_005038	Missense_Mutation	T	159632000	C	T	159632000	5	4	100	1	0	0	0	0	0	0	1	0	12341	753	26	2	229	2	PPID	4	159632000	Splice_Site	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	33391037	159632000	31522276	18	7544											
SEMA5A	9037	broad.mit.edu	37	chr5	9202166	9202166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacttccccaggacgggagCagttcaggcgagccttcatg	8	7	14	12	2	2	0	2	0	0	0	3	4	3	3	3	4	2	2	3	4	0	3			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr5:9202166C>T	ENST00000382496.5	-	9	1498	c.833G>A	c.(832-834)tGc>tAc	p.C278Y		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	278	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGGACGGGAGCAGTTCAGGCG	0.522																																					p.C278Y													.	SEMA5A	236		0			c.G833A												86	80	82					5																	9202166		2203	4300	6503	SO:0001583	missense	9037	exon9			CGGGAGCAGTTCA	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.833G>A	5.37:g.9202166C>T	ENSP00000371936:p.Cys278Tyr		429	0.0023310023	1		371	0.02	8	NM_003966	0		0	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795306	0.90453	.	.	ENSG00000112902	ENST00000382496	D	0.94046	-3.34	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.045211	0.85682	D	0.000000	D	0.98012	0.9345	H	0.97315	3.98	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.99044	1.0825	10	0.87932	D	0	.	17.6206	0.88080	0.0:1.0:0.0:0.0	.	278	Q13591	SEM5A_HUMAN	Y	278	ENSP00000371936:C278Y	ENSP00000371936:C278Y	C	-	2	0	SEMA5A	9255166	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.290000	0.78711	2.760000	0.94817	0.655000	0.94253	TGC			0.522	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206989.2				T	9202166	C	T	9202166	3	4	100	1	0	0	0	0	1	0	0	0	14060	710	25	2	2451	2	SEMA5A	5	9202166	Missense_Mutation	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10		9202166	171713094	19	7545											
SPEF2	79925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	35753823	35753823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagctggttacaggacaCtcttggaatgacaatgaacc	13	9	11	8	0	1	3	0	3	1	1	1	6	1	5	1	3	3	2	1	3	4	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr5:35753823C>T	ENST00000356031.3	+	24	3582	c.3428C>T	c.(3427-3429)aCt>aTt	p.T1143I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.T1138I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1143					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)			TTACAGGACACTCTTGGAATG	0.522																																					p.T1143I													.	.			0			c.C3428T												130	134	133					5																	35753823		1970	4153	6123	SO:0001583	missense	79925	exon24			AGGACACTCTTGG	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.3428C>T	5.37:g.35753823C>T	ENSP00000348314:p.Thr1143Ile		110	0	0		85	0.2	17	NM_024867	1	0	0	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	6.442	0.449637	0.12223	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.29917	1.55;1.55	5.35	-7.05	0.01573	.	0.789213	0.11682	N	0.539714	T	0.10465	0.0256	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.002	T	0.23048	-1.0199	10	0.23302	T	0.38	.	0.5663	0.00687	0.392:0.1426:0.1599:0.3055	.	1138;1143	Q9C093-2;Q9C093	.;SPEF2_HUMAN	I	1143;1138	ENSP00000348314:T1143I;ENSP00000412125:T1138I	ENSP00000348314:T1143I	T	+	2	0	SPEF2	35789580	0.003000	0.15002	0.000000	0.03702	0.044000	0.14063	0.021000	0.13489	-1.023000	0.03342	0.491000	0.48974	ACT			0.522	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367199.1		NM_144722		T	35753823	C	T	35753823	3	4	100	1	0	0	0	0	1	0	0	0	15058	565	20	3	3543	3	SPEF2	5	35753823	Missense_Mutation	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	26551657	35753823	145161437	20	7546											
SLCO4C1	353189	mdanderson.org	37	chr5	101631956	101631956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaagttctcaatacctttgGcgctcttcatgtctggatgg	7	14	9	11	1	4	0	2	0	3	0	5	1	4	1	2	3	1	2	2	3	3	4			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr5:101631956G>T	ENST00000310954.6	-	1	297	c.11C>A	c.(10-12)gCc>gAc	p.A4D		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)		AATACCTTTGGCGCTCTTCAT	0.607																																					p.A4D													.	.			0			c.C11A												63	74	70					5																	101631956		2203	4300	6503	SO:0001583	missense	353189	exon1			CCTTTGGCGCTCT	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.11C>A	5.37:g.101631956G>T	ENSP00000309741:p.Ala4Asp		99	0	0		55	0.05	3	NM_180991	3	0	0		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	9.189	1.025506	0.19512	.	.	ENSG00000173930	ENST00000310954	T	0.39056	1.1	4.11	-0.0782	0.13716	.	1.860880	0.03347	N	0.195607	T	0.24812	0.0602	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11012	-1.0605	10	0.30078	T	0.28	.	0.6684	0.00854	0.2108:0.1777:0.3641:0.2474	.	4	Q6ZQN7	SO4C1_HUMAN	D	4	ENSP00000309741:A4D	ENSP00000309741:A4D	A	-	2	0	SLCO4C1	101659855	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.066000	0.11598	0.051000	0.15978	0.591000	0.81541	GCC			0.607	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370332.1		NM_180991		T	101631956	G	T	101631956	3	4	100	1	0	0	0	0	1	0	0	0	14753	1203	42	2	2215	2	SLCO4C1	5	101631956	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	65878133	101631956	79283304	21	7547											
SLC6A7	6534	hgsc.bcm.edu	37	chr5	149578888	149578888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctggcctgggtcatcGtgttcctctgtatcctcaag	4	14	11	12	1	3	0	2	0	1	0	6	0	5	0	3	2	2	4	3	2	2	2	rs564660890		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr5:149578888G>T	ENST00000230671.2	+	5	1053	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	SLC6A7_ENST00000524041.1_Missense_Mutation_p.V228L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	228					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTGGGTCATCGTGTTCCTCTG	0.647																																					p.V228L													.	.			0			c.G682T												106	98	100					5																	149578888		2203	4300	6503	SO:0001583	missense	6534	exon5			GTCATCGTGTTCC	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.682G>T	5.37:g.149578888G>T	ENSP00000230671:p.Val228Leu		78	0	0		71	0.06	4	NM_014228	1	0	0	Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933866	0.73442	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.76060	-0.99;-0.99	5.21	5.21	0.72293	.	0.056815	0.64402	D	0.000001	D	0.82802	0.5116	L	0.54908	1.71	0.52501	D	0.999951	D	0.56035	0.974	P	0.61800	0.894	D	0.84460	0.0593	10	0.72032	D	0.01	.	18.7809	0.91932	0.0:0.0:1.0:0.0	.	228	Q99884	SC6A7_HUMAN	L	228	ENSP00000230671:V228L;ENSP00000428200:V228L	ENSP00000230671:V228L	V	+	1	0	SLC6A7	149559081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.674000	0.68117	2.414000	0.81942	0.655000	0.94253	GTG			0.647	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252325.1		NM_014228		T	149578888	G	T	149578888	3	4	100	1	0	0	0	0	1	0	0	0	14712	1145	40	1	700	1	SLC6A7	5	149578888	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	47946932	149578888	31336372	22	7548											
ZNF165	7718	mdanderson.org	37	chr6	28053615	28053615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccagagagtggagaggaGgcagtgaccatactagaaga	15	5	14	7	0	0	5	0	1	0	4	0	8	0	6	2	3	2	1	2	3	4	3			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr6:28053615G>T	ENST00000377325.1	+	2	913	c.357G>T	c.(355-357)gaG>gaT	p.E119D		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	119	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						GTGGAGAGGAGGCAGTGACCA	0.498																																					p.E119D													.	.			0			c.G357T												69	70	69					6																	28053615		2203	4300	6503	SO:0001583	missense	7718	exon2			AGAGGAGGCAGTG	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.357G>T	6.37:g.28053615G>T	ENSP00000366542:p.Glu119Asp		41	0	0		52	0.06	3	NM_003447	12	0	0		Missense_Mutation	SNP	ENST00000377325.1	37	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651742	0.29336	.	.	ENSG00000197279	ENST00000377325	T	0.08546	3.08	2.96	-0.958	0.10347	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.03136	0.0092	M	0.70108	2.13	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.40590	-0.9555	9	0.59425	D	0.04	.	4.0408	0.09750	0.3389:0.179:0.4821:0.0	.	119	P49910	ZN165_HUMAN	D	119	ENSP00000366542:E119D	ENSP00000366542:E119D	E	+	3	2	ZNF165	28161594	0.242000	0.23868	0.112000	0.21494	0.996000	0.88848	-0.254000	0.08781	-0.251000	0.09542	0.655000	0.94253	GAG			0.498	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040173.1		NM_003447		T	28053615	G	T	28053615	3	4	100	1	0	0	0	0	1	0	0	0	17763	991	35	3	359	3	ZNF165	6	28053615	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		28053615	143061452	23	7549											
KCNQ5	56479	broad.mit.edu	37	chr6	73843232	73843232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctcagtaggtgacaggAggtccccaagcaccgacatc	12	5	11	13	1	1	1	1	1	0	0	3	3	2	2	4	3	2	2	4	3	3	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr6:73843232A>G	ENST00000370398.1	+	10	1445	c.1336A>G	c.(1336-1338)Agg>Ggg	p.R446G	KCNQ5_ENST00000414165.2_Intron|KCNQ5-AS1_ENST00000429832.1_RNA|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R465G|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R437G|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R456G|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R447G|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R446G	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	446					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)	AGGTGACAGGAGGTCCCCAAG	0.592																																					p.R465G	GBM(142;1375 1859 14391 23261 44706)												.	KCNQ5	153		0			c.A1393G												95	95	95					6																	73843232		2203	4300	6503	SO:0001583	missense	56479	exon11			GACAGGAGGTCCC	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.1336A>G	6.37:g.73843232A>G	ENSP00000359425:p.Arg446Gly		190	0	0		252	0.02	5	NM_001160133	1	0	0	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.77|19.77	3.889061|3.889061	0.72524|0.72524	.|.	.|.	ENSG00000185760|ENSG00000185760	ENST00000427928|ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	.|D;D;D;D;D;D	.|0.99698	.|-6.44;-6.44;-6.44;-6.44;-6.44;-6.44	5.59|5.59	3.05|3.05	0.35203|0.35203	.|Potassium channel, voltage dependent, KCNQ, C-terminal (1);	.|0.053445	.|0.85682	.|D	.|0.000000	D|D	0.98194|0.98194	0.9403|0.9403	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.19817	.|0.039;0.007;0.017;0.002	.|B;B;B;B	.|0.25405	.|0.06;0.021;0.054;0.012	D|D	0.99969|0.99969	1.1954|1.1954	5|10	.|0.29301	.|T	.|0.29	.|.	12.3513|12.3513	0.55151|0.55151	0.6084:0.3916:0.0:0.0|0.6084:0.3916:0.0:0.0	.|.	.|456;465;437;446	.|Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.|.;.;.;KCNQ5_HUMAN	G|G	37|465;465;446;446;456;447;437	.|ENSP00000345055:R465G;ENSP00000347326:R446G;ENSP00000359425:R446G;ENSP00000385501:R456G;ENSP00000347853:R447G;ENSP00000384453:R437G	.|ENSP00000345055:R465G	E|R	+|+	2|1	0|2	KCNQ5|KCNQ5	73899953|73899953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.699000|2.699000	0.47077|0.47077	1.037000|1.037000	0.40024|0.40024	0.460000|0.460000	0.39030|0.39030	GAG|AGG			0.592	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000041198.3		NM_019842		G	73843232	A	G	73843232	3	3	100	1	0	0	0	0	1	0	0	0	8101	295	11	4	1435	4	KCNQ5	6	73843232	Missense_Mutation	SNP	A	TCGA-VF-A8AD-01A-11D-A435-10	45789617	73843232	97271835	24	7550											
SEC63	11231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr6	108214783	108214783	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaaggtttctttttttttGatttagcagttttcttgggt	6	24	8	3	0	2	1	0	1	2	0	2	1	2	1	0	2	1	3	0	2	3	11			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr6:108214783G>C	ENST00000369002.4	-	16	1756	c.1577C>G	c.(1576-1578)tCa>tGa	p.S526*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	526	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)		CTTTTTTTTTGATTTAGCAGT	0.388																																					p.S526X													.	.			0			c.C1577G	GRCh37	CM063124	SEC63	M								128	133	132					6																	108214783		2203	4300	6503	SO:0001587	stop_gained	11231	exon16			TTTTTTGATTTAG	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.1577C>G	6.37:g.108214783G>C	ENSP00000357998:p.Ser526*		102	0	0		89	0.18	16	NM_007214	212	0.03	6	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.440289|6.440289	0.97568|0.97568	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.32370	.|T	.|0.25	.|-11.931	19.497|19.497	0.95077|0.95077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|526;177	.|.	.|ENSP00000357998:S526X	.|S	-|-	.|2	.|0	SEC63|SEC63	108321476|108321476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.292000|7.292000	0.78731|0.78731	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	.|TCA			0.388	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041705.4		NM_007214		C	108214783	G	C	108214783	4	2	100	1	0	0	0	0	0	1	0	0	14028	1294	45	5	729	5	SEC63	6	108214783	Nonsense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	34371551	108214783	62900284	25	7551											
FIG4	9896	mdanderson.org	37	chr6	110064975	110064975	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttgaatttagtgaaGgtatgatgtgctcatctgtt	10	17	9	5	0	4	3	2	3	2	0	4	3	4	3	0	1	1	3	0	1	4	5			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr6:110064975G>T	ENST00000230124.3	+	10	1261	c.1137G>T	c.(1135-1137)aaG>aaT	p.K379N	FIG4_ENST00000441478.2_Splice_Site_p.K102N	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	379	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ATTTAGTGAAGGTATGATGTG	0.478																																					p.K379N													.	.			0			c.G1137T												126	111	116					6																	110064975		2203	4300	6503	SO:0001630	splice_region_variant	9896	exon10			AGTGAAGGTATGA	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1137+1G>T	6.37:g.110064975G>T			68	0	0		69	0.07	5	NM_014845	18	0	0	Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732113	0.89390	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.55052	1.06;0.54	4.66	4.66	0.58398	Synaptojanin, N-terminal (2);	0.128969	0.52532	D	0.000074	T	0.58552	0.2130	L	0.49350	1.555	0.80722	D	1	B;D	0.89917	0.288;1.0	B;D	0.81914	0.168;0.995	T	0.53380	-0.8447	10	0.26408	T	0.33	-14.2328	17.9106	0.88932	0.0:0.0:1.0:0.0	.	102;379	F5H8L9;Q92562	.;FIG4_HUMAN	N	102;379	ENSP00000399443:K102N;ENSP00000230124:K379N	ENSP00000230124:K379N	K	+	3	2	FIG4	110171668	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.352000	0.97076	2.302000	0.77476	0.650000	0.86243	AAG			0.478	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041768.1		NM_014845	Missense_Mutation	T	110064975	G	T	110064975	5	4	100	1	0	0	0	0	0	0	1	0	5901	1014	35	3	1175	3	FIG4	6	110064975	Splice_Site	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	1850192	110064975	61050092	26	7552											
GPER	2852	mdanderson.org	37	chr7	1132183	1132183	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttcgtctgctggctGccggagaacgtcttcatcag	5	13	11	12	3	6	1	2	0	4	1	7	2	6	1	1	2	3	2	1	2	1	3			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr7:1132183G>T	ENST00000297469.3	+	2	1510	c.819G>T	c.(817-819)ctG>ctT	p.L273L	C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Silent_p.L273L|GPER1_ENST00000397092.1_Silent_p.L273L|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000401670.1_Silent_p.L273L|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	273					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										TCTGCTGGCTGCCGGAGAACG	0.701																																					p.L273L													.	.			0			c.G819T												57	58	58					7																	1132183		2203	4300	6503	SO:0001819	synonymous_variant	2852	exon2			CTGGCTGCCGGAG	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.819G>T	7.37:g.1132183G>T			36	0	0		45	0.07	3	NM_001505	0		0	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	ENST00000297469.3	37	CCDS5322.1																																																																																					0.701	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060001.1		NM_001039966		T	1132183	G	T	1132183	2	4	100	1	0	0	0	0	0	0	0	1	6621	1306	46	2		2	GPER	7	1132183	Silent	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		1132183	158006480	27	7553											
RADIL	55698	ucsc.edu	37	chr7	4874814	4874814	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgctgggcttgctggaGggggtccgctggcccaccgt	3	9	17	12	2	0	1	0	1	0	0	1	2	1	2	3	5	2	4	3	5	0	1	rs13232656		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr7:4874814G>T	ENST00000399583.3	-	4	1027	c.840C>A	c.(838-840)ccC>ccA	p.P280P	RADIL_ENST00000536091.1_Silent_p.P280P|RADIL_ENST00000538469.1_Silent_p.P40P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	280					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTTGCTGGAGGGGGTCCGCT	0.682																																					p.P280P													.	RADIL	110		0			c.C840A												19	27	24					7																	4874814		2173	4252	6425	SO:0001819	synonymous_variant	55698	exon4			GCTGGAGGGGGTC	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.840C>A	7.37:g.4874814G>T			35	0	0		39	0.1	4	NM_018059	19	0	0	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.192|5.192	0.220932|0.220932	0.09863|0.09863	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000316919|ENST00000544486	.|.	.|.	.|.	4.75|4.75	-6.29|-6.29	0.02013|0.02013	.|.	.|1.754590	.|0.02840	.|N	.|0.127826	.|T	.|0.30572	.|0.0769	.|.	.|.	.|.	0.29145|0.29145	N|N	0.878787|0.878787	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.18555	.|-1.0333	.|6	.|0.72032	.|D	.|0.01	.|-6.9366	0.9329|0.9329	0.01339|0.01339	0.2739:0.3345:0.1844:0.2072|0.2739:0.3345:0.1844:0.2072	.|.	.|.	.|.	.|.	.|H	-1|15	.|.	.|ENSP00000437686:P15H	.|P	-|-	.|2	.|0	RADIL|RADIL	4841340|4841340	0.000000|0.000000	0.05858|0.05858	0.084000|0.084000	0.20598|0.20598	0.101000|0.101000	0.19017|0.19017	-2.190000|-2.190000	0.01247|0.01247	-1.919000|-1.919000	0.01071|0.01071	-1.251000|-1.251000	0.01509|0.01509	.|CCT			0.682	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323769.2		NM_018059		T	4874814	G	T	4874814	2	4	100	1	0	0	0	0	0	0	0	1	13020	987	35	3		3	RADIL	7	4874814	Silent	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	3742631	4874814	154263849	28	7554											
CCDC146	57639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	76889506	76889506	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacataaccaattggtcaaGctattggaattagccagaga	16	9	9	7	0	1	1	1	0	0	1	1	4	1	2	2	2	4	1	2	2	7	5			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr7:76889506G>A	ENST00000285871.4	+	8	1066	c.939G>A	c.(937-939)aaG>aaA	p.K313K	AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.K59K	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	313										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AATTGGTCAAGCTATTGGAAT	0.323																																					p.K313K													.	.			0			c.G939A												97	95	95					7																	76889506		2203	4300	6503	SO:0001819	synonymous_variant	57639	exon8			GGTCAAGCTATTG	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.939G>A	7.37:g.76889506G>A			260	0	0		294	0.15	44	NM_020879	2	0	0	A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	CCDS34671.1																																																																																					0.323	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341449.1		NM_020879		A	76889506	G	A	76889506	2	1	100	1	0	0	0	0	0	0	0	1	2782	962	34	2		2	CCDC146	7	76889506	Silent	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	72014692	76889506	82249157	29	7555											
EZH2	2146	broad.mit.edu	37	chr7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatggaaagatgctaacccTttttcagctgtatctttctg	10	15	8	8	0	3	1	1	0	2	1	3	3	3	2	1	1	3	3	1	1	4	5			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr7:148512600T>C	ENST00000460911.1	-	13	1617	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	EZH2_ENST00000483967.1_Missense_Mutation_p.K501R|EZH2_ENST00000476773.1_Missense_Mutation_p.K501R|EZH2_ENST00000320356.2_Missense_Mutation_p.K515R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000478654.1_Missense_Mutation_p.K501R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	510	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL																																p.K515R				Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	EZH2	823		0			c.A1544G												150	144	146					7																	148512600		2203	4300	6503	SO:0001583	missense	0	exon13			TAACCCTTTTTCA		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1529A>G	7.37:g.148512600T>C	ENSP00000419711:p.Lys510Arg		302	0	0		397	0.01	5	NM_004456	88	0	0	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	t	27.5	4.839567	0.91117	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94687	-3.44;-3.49;-3.49;-3.48;-3.44;-3.44;-3.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	L	0.60455	1.87	0.80722	D	1	P;P;D;P;D	0.76494	0.635;0.799;0.992;0.635;0.999	B;P;P;B;D	0.80764	0.347;0.465;0.765;0.347;0.994	D	0.95704	0.8752	10	0.38643	T	0.18	.	15.542	0.76057	0.0:0.0:0.0:1.0	.	501;501;510;471;515	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	R	501;515;510;471;501;501;501	ENSP00000417062:K501R;ENSP00000320147:K515R;ENSP00000419711:K510R;ENSP00000223193:K471R;ENSP00000443219:K501R;ENSP00000419050:K501R;ENSP00000419856:K501R	ENSP00000320147:K515R	K	-	2	0	EZH2	148143533	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.351000	0.79395	2.064000	0.61679	0.533000	0.62120	AAG			0.368	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000352744.1		NM_004456		C	148512600	T	C	148512600	3	2	100	1	0	0	0	0	1	0	0	0	5341	1609	56	4	743	4	EZH2	7	148512600	Missense_Mutation	SNP	T	TCGA-VF-A8AD-01A-11D-A435-10	71623094	148512600	10626063	30	7556											
MFHAS1	9258	mdanderson.org	37	chr8	8750295	8750295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggttcctgcgcaggaccaGgacgcgcaggctgcccagcg	6	4	16	15	5	0	0	0	0	0	0	1	2	1	2	3	4	3	4	3	4	0	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr8:8750295G>T	ENST00000276282.6	-	1	860	c.274C>A	c.(274-276)Ctg>Atg	p.L92M		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	92										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CGCAGGACCAGGACGCGCAGG	0.726																																					p.L92M	Melanoma(103;1201 2045 17515 28966)												.	.			0			c.C274A												9	12	11					8																	8750295		2165	4266	6431	SO:0001583	missense	9258	exon1			GGACCAGGACGCG	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.274C>A	8.37:g.8750295G>T	ENSP00000276282:p.Leu92Met		85	0	0		54	0.07	4	NM_004225	0		0	Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890522	0.52014	.	.	ENSG00000147324	ENST00000276282	T	0.80393	-1.37	4.75	2.92	0.33932	.	0.102108	0.40469	N	0.001085	D	0.88709	0.6510	M	0.89840	3.065	0.39722	D	0.971484	D	0.63046	0.992	D	0.64877	0.93	D	0.87603	0.2498	10	0.87932	D	0	.	7.0842	0.25247	0.2909:0.0:0.7091:0.0	.	92	Q9Y4C4	MFHA1_HUMAN	M	92	ENSP00000276282:L92M	ENSP00000276282:L92M	L	-	1	2	MFHAS1	8787705	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	2.081000	0.41596	0.412000	0.25729	-0.259000	0.10710	CTG			0.726	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374724.2		NM_004225		T	8750295	G	T	8750295	3	4	100	1	0	0	0	0	1	0	0	0	9537	991	35	3	2896	3	MFHAS1	8	8750295	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		8750295	137613727	31	7557											
RP1L1	94137	mdanderson.org	37	chr8	10470155	10470155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcccctatctgggcagaggGgctggcactgtccaccccgt	6	7	13	15	1	1	1	0	0	1	1	2	1	2	1	5	4	1	3	5	4	1	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr8:10470155G>T	ENST00000382483.3	-	4	1676	c.1453C>A	c.(1453-1455)Ccc>Acc	p.P485T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	485					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGGCAGAGGGGCTGGCACTG	0.706																																					p.P485T													.	.			0			c.C1453A												25	29	28					8																	10470155		1924	4115	6039	SO:0001583	missense	94137	exon4			CAGAGGGGCTGGC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1453C>A	8.37:g.10470155G>T	ENSP00000371923:p.Pro485Thr		26	0	0		24	0.13	3	NM_178857	0		0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	5.255	0.232514	0.09969	.	.	ENSG00000183638	ENST00000382483	T	0.04275	3.66	4.66	1.66	0.24008	.	1.745140	0.03963	N	0.290429	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	P	0.49185	0.92	B	0.40782	0.34	T	0.26883	-1.0090	10	0.54805	T	0.06	4.5613	2.5872	0.04833	0.1137:0.3705:0.3556:0.1602	.	485	A6NKC6	.	T	485	ENSP00000371923:P485T	ENSP00000371923:P485T	P	-	1	0	RP1L1	10507565	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.671000	0.25172	0.495000	0.27882	0.561000	0.74099	CCC			0.706	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375673.1				T	10470155	G	T	10470155	3	4	100	1	0	0	0	0	1	0	0	0	13556	1232	43	3	5753	3	RP1L1	8	10470155	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	1719860	10470155	135893867	32	7558											
PTK2B	2185	broad.mit.edu	37	chr8	27315955	27315955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaccctggctgtggacGccaagaacctgctcgacgct	9	6	10	16	3	0	1	0	0	0	1	1	3	0	2	3	2	2	3	3	2	2	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr8:27315955G>T	ENST00000397501.1	+	36	3767	c.2959G>T	c.(2959-2961)Gcc>Tcc	p.A987S	PTK2B_ENST00000517339.1_Missense_Mutation_p.A945S|PTK2B_ENST00000420218.2_Missense_Mutation_p.A945S|PTK2B_ENST00000544172.1_Missense_Mutation_p.A987S|PTK2B_ENST00000338238.4_Missense_Mutation_p.A945S|PTK2B_ENST00000346049.5_Missense_Mutation_p.A987S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	987	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				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)	GGCTGTGGACGCCAAGAACCT	0.627																																					p.A987S													.	PTK2B	304		0			c.G2959T												62	42	49					8																	27315955		2203	4300	6503	SO:0001583	missense	2185	exon36			GTGGACGCCAAGA	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.2959G>T	8.37:g.27315955G>T	ENSP00000380638:p.Ala987Ser		139	0.0071942446	1		95	0.03	3	NM_173174	54	0	0	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235144	0.58886	.	.	ENSG00000120899	ENST00000397501;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	4.91	4.91	0.64330	Focal adhesion kinase, targeting (FAT) domain (3);	0.162633	0.53938	D	0.000043	T	0.44180	0.1281	L	0.35414	1.06	0.53688	D	0.999978	P;P	0.52061	0.906;0.95	B;P	0.51415	0.354;0.669	T	0.31916	-0.9926	10	0.45353	T	0.12	.	15.6329	0.76926	0.0:0.0:1.0:0.0	.	945;987	Q14289-2;Q14289	.;FAK2_HUMAN	S	987;945;987;987;945;945	ENSP00000380638:A987S;ENSP00000342242:A945S;ENSP00000440926:A987S;ENSP00000332816:A987S;ENSP00000391995:A945S;ENSP00000427931:A945S	ENSP00000342242:A945S	A	+	1	0	PTK2B	27371872	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	4.058000	0.57463	2.532000	0.85374	0.563000	0.77884	GCC			0.627	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219916.1		NM_004103		T	27315955	G	T	27315955	3	4	100	1	0	0	0	0	1	0	0	0	12784	1087	38	1	3077	1	PTK2B	8	27315955	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	16845800	27315955	119048067	33	7559											
BAI1	575	mdanderson.org	37	chr8	143566121	143566121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcataccaggtgacagacaaCctgggtaagcctgcccgcct	10	6	11	14	1	0	2	0	1	0	1	0	2	0	2	5	2	4	2	5	2	3	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr8:143566121C>T	ENST00000517894.1	+	13	3198	c.2304C>T	c.(2302-2304)aaC>aaT	p.N768N	BAI1_ENST00000323289.5_Silent_p.N768N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	768					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)					tgacagacaacctgggtaagc	0.617																																					p.N768N													.	.			0			c.C2304T												31	41	38					8																	143566121		2028	4180	6208	SO:0001819	synonymous_variant	575	exon12			AGACAACCTGGGT	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.2304C>T	8.37:g.143566121C>T			37	0	0		40	0.08	3	NM_001702	0		0		Silent	SNP	ENST00000517894.1	37																																																																																						0.617	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000379963.3		NM_001702		T	143566121	C	T	143566121	2	4	100	1	0	0	0	0	0	0	0	1	1298	506	18	3		3	BAI1	8	143566121	Silent	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	116250166	143566121	2797901	34	7560											
TYRP1	7306	broad.mit.edu	37	chr9	12702271	12702271	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcccatttttttctgcagGcaccgaggatgggccaatta	9	12	9	11	1	1	0	0	0	1	0	2	2	2	1	3	3	1	2	3	3	2	4			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr9:12702271G>T	ENST00000388918.5	+	5	1043	c.914G>T	c.(913-915)aGc>aTc	p.S305I	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Splice_Site_p.G15V|TYRP1_ENST00000381136.2_Splice_Site_p.G15V	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	305					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)		TTTTCTGCAGGCACCGAGGAT	0.423									Oculocutaneous Albinism																												p.S305I													.	TYRP1	60		0			c.G914T												87	82	84					9																	12702271		2203	4300	6503	SO:0001630	splice_region_variant	7306	exon5	Familial Cancer Database		CTGCAGGCACCGA	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.914-1G>T	9.37:g.12702271G>T			221	0.0045248869	1		202	0.03	6	NM_000550	0		0	P78468|P78469|Q13721|Q15679	Splice_Site	SNP	ENST00000388918.5	37	CCDS34990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.43|15.43	2.830531|2.830531	0.50845|0.50845	.|.	.|.	ENSG00000107165|ENSG00000107165	ENST00000381137;ENST00000381136|ENST00000388918	D;D|D	0.99143|0.98381	-5.48;-5.48|-4.9	5.97|5.97	5.97|5.97	0.96955|0.96955	.|Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	.|0.033858	.|0.85682	.|D	.|0.000000	D|D	0.98551|0.98551	0.9516|0.9516	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999984|0.999984	.|D	.|0.67145	.|0.996	.|D	.|0.71414	.|0.973	D|D	0.98474|0.98474	1.0602|1.0602	6|9	.|.	.|.	.|.	.|.	20.4238|20.4238	0.99064|0.99064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|305	.|P17643	.|TYRP1_HUMAN	V|I	15|305	ENSP00000370529:G15V;ENSP00000370528:G15V|ENSP00000373570:S305I	.|.	G|S	+|+	2|2	0|0	TYRP1|TYRP1	12692271|12692271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.094000|0.094000	0.18550|0.18550	7.610000|7.610000	0.82949|0.82949	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	GGC|AGC			0.423	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055502.3		NM_000550	Missense_Mutation	T	12702271	G	T	12702271	5	4	100	1	0	0	0	0	0	0	1	0	16840	1217	42	2	928	2	TYRP1	9	12702271	Splice_Site	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		12702271	128511160	35	7561											
NPR2	4882	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	35802591	35802591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactgaatactgtcctcGtgggagtttacaggtgaggg	8	12	14	7	1	1	2	1	2	0	0	3	3	2	3	1	3	2	1	1	3	3	3	rs180950551		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr9:35802591G>A	ENST00000342694.2	+	11	2057	c.1802G>A	c.(1801-1803)cGt>cAt	p.R601H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TACTGTCCTCGTGGGAGTTTA	0.493													G|||	1	0.000199681	0	0	5008	,	,		20827	0		0.001	False		,,,				2504	0				p.R601H													.	.			0			c.G1802A												101	91	94					9																	35802591		2203	4300	6503	SO:0001583	missense	4882	exon11			GTCCTCGTGGGAG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1802G>A	9.37:g.35802591G>A	ENSP00000341083:p.Arg601His		210	0	0		235	0.05	12	NM_003995	13	0	0	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	33	5.279268	0.95489	.	.	ENSG00000159899	ENST00000342694	T	0.46451	0.87	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000403	T	0.59810	0.2221	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.79784	0.993;0.883	T	0.60850	-0.7181	10	0.87932	D	0	.	18.1831	0.89785	0.0:0.0:1.0:0.0	.	601;601	P20594-2;P20594	.;ANPRB_HUMAN	H	601	ENSP00000341083:R601H	ENSP00000341083:R601H	R	+	2	0	NPR2	35792591	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.922000	0.87538	2.722000	0.93159	0.655000	0.94253	CGT	0.001		0.493	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052345.1				A	35802591	G	A	35802591	3	1	100	1	0	0	0	0	1	0	0	0	10612	1145	40	1	1844	1	NPR2	9	35802591	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	23100320	35802591	105410840	36	7562											
FLJ46321	389763	broad.mit.edu	37	chr9	84607496	84607496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagatggggcctgccccGcagaatccatgagtctctgt	7	8	13	13	2	1	3	0	1	1	2	3	3	2	3	4	2	1	2	4	2	1	0	rs374319352		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr9:84607496G>A	ENST00000344803.2	+	4	2158	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	704					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGCCTGCCCCGCAGAATCCAT	0.473													G|||	1	0.000199681	0	0	5008	,	,		19063	0		0	False		,,,				2504	0.001				p.R704H													FAM75D4,colon,carcinoma,0,4	.		4	0			c.G2111A							G	HIS/ARG	0,3666		0,0,1833	54	53	54		2111	-0.2	0	9		54	1,8149		0,1,4074	no	missense	FAM75D1	NM_001001670.2	29	0,1,5907	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	704/1577	84607496	1,11815	1833	4075	5908	SO:0001583	missense	389763	exon4			TGCCCCGCAGAAT		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2111G>A	9.37:g.84607496G>A	ENSP00000341988:p.Arg704His		251	0	0		331	0.02	5	NM_001001670	0		0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	9.886	1.203023	0.22121	0.0	1.23E-4	ENSG00000214929	ENST00000344803	T	0.07114	3.22	3.51	-0.228	0.13098	.	1.632710	0.03228	N	0.178529	T	0.05686	0.0149	L	0.27053	0.805	0.09310	N	1	B	0.33549	0.417	B	0.27715	0.082	T	0.36359	-0.9751	10	0.15952	T	0.53	-6.0E-4	6.1571	0.20344	0.4497:0.0:0.5503:0.0	.	704	Q6ZQQ2	F75D1_HUMAN	H	704	ENSP00000341988:R704H	ENSP00000341988:R704H	R	+	2	0	FAM75D1	83797316	0.057000	0.20700	0.003000	0.11579	0.002000	0.02628	0.395000	0.20850	-0.152000	0.11156	-0.459000	0.05422	CGC			0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402325.1		NM_001001670		A	84607496	G	A	84607496	3	1	100	1	0	0	0	0	1	0	0	0	5945	1087	38	1	2125	1	FLJ46321	9	84607496	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	48804905	84607496	56605935	37	7563											
BICD2	23299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	95482926	95482926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccagcgcctcctccaGctgccgctctgagatctcct	4	10	9	18	2	3	1	0	1	3	1	7	2	5	1	6	1	3	2	6	1	0	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr9:95482926G>C	ENST00000375512.3	-	4	785	c.718C>G	c.(718-720)Ctg>Gtg	p.L240V	BICD2_ENST00000356884.6_Missense_Mutation_p.L240V	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	240					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCTCCTCCAGCTGCCGCTCT	0.582																																					p.L240V													.	.			0			c.C718G												73	79	77					9																	95482926		2203	4300	6503	SO:0001583	missense	23299	exon4			CCTCCAGCTGCCG	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.718C>G	9.37:g.95482926G>C	ENSP00000364662:p.Leu240Val		179	0	0		181	0.1	19	NM_001003800	11	0.18	2	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129259	0.77549	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.61040	0.14;0.14	5.36	3.5	0.40072	.	0.000000	0.64402	D	0.000001	T	0.64114	0.2569	M	0.73962	2.25	0.48975	D	0.999733	P;D	0.54047	0.956;0.964	P;P	0.54856	0.65;0.762	T	0.63404	-0.6645	10	0.54805	T	0.06	-12.8856	4.9189	0.13860	0.1806:0.0:0.6512:0.1682	.	240;240	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	V	240	ENSP00000349351:L240V;ENSP00000364662:L240V	ENSP00000349351:L240V	L	-	1	2	BICD2	94522747	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.671000	0.61590	0.738000	0.32606	0.655000	0.94253	CTG			0.582	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000055508.1		NM_015250		C	95482926	G	C	95482926	3	2	100	1	0	0	0	0	1	0	0	0	1429	962	34	5	1875	5	BICD2	9	95482926	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	10875430	95482926	45730505	38	7564											
C9orf96	169436	mdanderson.org	37	chr9	136269921	136269921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccatcccccagagctggcgGccttcaaggtggtggtgcag	6	7	14	14	1	1	1	1	0	0	1	2	1	2	1	4	5	2	2	4	5	1	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr9:136269921G>T	ENST00000371957.3	+	17	1848	c.1741G>T	c.(1741-1743)Gcc>Tcc	p.A581S	C9orf96_ENST00000371955.1_Missense_Mutation_p.A114S	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		581							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGAGCTGGCGGCCTTCAAGGT	0.637																																					p.A581S													.	.			0			c.G1741T												92	90	91					9																	136269921		2203	4300	6503	SO:0001583	missense	169436	exon17			CTGGCGGCCTTCA																												ENST00000371957.3:c.1741G>T	9.37:g.136269921G>T	ENSP00000361025:p.Ala581Ser		39	0	0		48	0.06	3	NM_153710	1	0	0	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858368	0.51376	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.51817	0.69;0.77	5.26	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.179643	0.38959	N	0.001518	T	0.60261	0.2255	L	0.58101	1.795	0.20074	N	0.999932	D	0.89917	1.0	D	0.74674	0.984	T	0.51325	-0.8720	10	0.59425	D	0.04	-29.723	9.115	0.36753	0.0795:0.145:0.7755:0.0	.	581	Q8NE28	SGK71_HUMAN	S	581;114	ENSP00000361025:A581S;ENSP00000361023:A114S	ENSP00000361023:A114S	A	+	1	0	C9orf96	135259742	1.000000	0.71417	0.127000	0.21898	0.375000	0.29983	3.471000	0.53107	2.433000	0.82419	0.655000	0.94253	GCC			0.637	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054855.1				T	136269921	G	T	136269921	3	4	100	1	0	0	0	0	1	0	0	0	2510	1203	42	2	1807	2	C9orf96	9	136269921	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	40786995	136269921	4943510	39	7565											
TRPM5	29850	bcgsc.ca;mdanderson.org	37	chr11	2429028	2429028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttcatgagcagcacattgGtgaccaacaggaaggtgacc	12	7	13	9	0	1	3	1	3	0	0	1	4	1	4	2	4	3	3	2	4	2	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr11:2429028G>A	ENST00000155858.6	-	19	2905	c.2897C>T	c.(2896-2898)aCc>aTc	p.T966I	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000452833.1_Missense_Mutation_p.T968I|TRPM5_ENST00000528453.1_Missense_Mutation_p.T966I|TRPM5_ENST00000533060.1_Missense_Mutation_p.T966I	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)		CAGCACATTGGTGACCAACAG	0.607																																					p.T966I	NSCLC(1;49 61 17205 18850 43201)												.	TRPM5	86		0			c.C2897T												168	134	146					11																	2429028		2202	4299	6501	SO:0001583	missense	29850	exon19			ACATTGGTGACCA	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.2897C>T	11.37:g.2429028G>A	ENSP00000155858:p.Thr966Ile		115	0	0		100	0.05	5	NM_014555	0		0		Missense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999599	0.74818	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	3.16	3.16	0.36331	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.85435	0.5696	M	0.81341	2.54	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.991	D	0.88148	0.2849	10	0.87932	D	0	-31.212	14.1564	0.65419	0.0:0.0:1.0:0.0	.	966;968;966	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	I	960;966;968;966;966	ENSP00000434383:T960I;ENSP00000155858:T966I;ENSP00000387965:T968I;ENSP00000434121:T966I;ENSP00000436809:T966I	ENSP00000155858:T966I	T	-	2	0	TRPM5	2385604	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.324000	0.79115	1.734000	0.51633	0.462000	0.41574	ACC			0.607	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000027378.1		NM_014555		A	2429028	G	A	2429028	3	1	100	1	0	0	0	0	1	0	0	0	16613	1261	44	3	624	3	TRPM5	11	2429028	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		2429028	132577488	40	7566											
OR52N4	390072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	5776663	5776663	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagtggtcagcctctcCtcagcagatgctcggcagaa	8	7	13	13	2	3	2	2	0	1	2	5	2	3	2	2	3	3	4	2	3	1	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr11:5776663C>T	ENST00000317254.3	+	1	741	c.693C>T	c.(691-693)tcC>tcT	p.S231S	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	231						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)		TCAGCCTCTCCTCAGCAGATG	0.498																																					p.S231S													OR52N4,NS,carcinoma,0,1	OR52N4	0	1	0			c.C693T												179	172	174					11																	5776663		2132	4270	6402	SO:0001819	synonymous_variant	390072	exon1			CCTCTCCTCAGCA	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.693C>T	11.37:g.5776663C>T			152	0	0		173	0.14	25	NM_001005175	1	0	0	B2RNP8|Q6IF77	Silent	SNP	ENST00000317254.3	37	CCDS44528.1																																																																																					0.498	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143350.1		NM_001005175		T	5776663	C	T	5776663	2	4	100	1	0	0	0	0	0	0	0	1	11146	668	24	3		3	OR52N4	11	5776663	Silent	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	3347635	5776663	129229853	41	7567											
INCENP	3619	mdanderson.org	37	chr11	61897743	61897743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccccaagggtcaaggggtCgggacggggcggtctgcgtc	6	5	19	11	4	2	0	1	0	1	0	4	2	2	1	2	7	1	0	2	7	2	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr11:61897743C>T	ENST00000394818.3	+	4	946	c.744C>T	c.(742-744)gtC>gtT	p.V248V	INCENP_ENST00000278849.4_Silent_p.V248V	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	248					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTCAAGGGGTCGGGACGGGGC	0.617																																					p.V248V													.	.			0			c.C744T												61	60	61					11																	61897743		2202	4299	6501	SO:0001819	synonymous_variant	3619	exon4			AGGGGTCGGGACG	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.744C>T	11.37:g.61897743C>T			44	0	0		48	0.06	3	NM_020238	31	0	0	A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																					0.617	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000394723.2		NM_020238		T	61897743	C	T	61897743	2	4	100	1	0	0	0	0	0	0	0	1	7748	871	31	1		1	INCENP	11	61897743	Silent	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	56121080	61897743	73108773	42	7568											
CABP2	51475	mdanderson.org	37	chr11	67290111	67290111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacgcctggcgcggggTccccctgctccttggggctg	1	8	16	16	3	0	0	0	0	0	0	2	1	2	1	5	6	1	2	5	6	0	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr11:67290111T>C	ENST00000294288.4	-	2	188	c.119A>G	c.(118-120)gAc>gGc	p.D40G	CABP2_ENST00000353903.5_Intron	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	40					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						TGGCGCGGGGTCCCCCTGCTC	0.701																																					p.D40G													.	.			0			c.A119G												9	9	9					11																	67290111		2079	3995	6074	SO:0001583	missense	51475	exon2			GCGGGGTCCCCCT	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"EF-hand domain containing"	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.119A>G	11.37:g.67290111T>C	ENSP00000294288:p.Asp40Gly		75	0.0133333333	1		64	0.06	4	NM_016366	0		0		Missense_Mutation	SNP	ENST00000294288.4	37	CCDS8170.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.032729	0.00041	.	.	ENSG00000167791	ENST00000294288	T	0.71817	-0.6	4.65	-3.8	0.04307	.	5.515310	0.00610	N	0.000415	T	0.44644	0.1303	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27971	-1.0058	10	0.14252	T	0.57	.	3.8088	0.08788	0.0988:0.2975:0.3926:0.2111	.	40	Q9NPB3	CABP2_HUMAN	G	40	ENSP00000294288:D40G	ENSP00000294288:D40G	D	-	2	0	CABP2	67046687	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-2.287000	0.01151	-0.607000	0.05738	-4.066000	0.00012	GAC			0.701	CABP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000397516.1				C	67290111	T	C	67290111	3	2	100	1	0	0	0	0	1	0	0	0	2534	1667	58	4	567	4	CABP2	11	67290111	Missense_Mutation	SNP	T	TCGA-VF-A8AD-01A-11D-A435-10	5392368	67290111	67716405	43	7569											
SYTL2	54843	broad.mit.edu	37	chr11	85437269	85437269	+	Intron	DEL	T	T	-																															atttcctctcttgccataacTttttttgggcttagaagcac																										TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr11:85437269delT	ENST00000528231.1	-	7	1737				SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Frame_Shift_Del_p.K601fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000527523.1_Intron	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)		TTGCCATAACTTTTTTTGGGC	0.373																																					p.K77fs													.	SYTL2	231		0			c.231delA												185	180	182					11																	85437269		2203	4299	6502	SO:0001627	intron_variant	54843	exon1			CATAACTTTTTTT	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+1669A>-	11.37:g.85437269delT			190	0	0		485	0.01	7	NM_206927	0		0	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Del	DEL	ENST00000528231.1	37	CCDS53688.1																																																																																					0.373	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000392192.1		NM_206927		-	85437269	T	-	85437269	6	5	100	0	1	1	0	1	0	0	0	0	15506	1606	56	0		0	SYTL2	11	85437269	Intron	DEL	T	TCGA-VF-A8AD-01A-11D-A435-10	18147158	85437269	49569247	44	7570											
HYOU1	10525	mdanderson.org	37	chr11	118925755	118925755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcccaacacttcctcaGgtgagaactgcagctgcctg	9	8	9	15	0	1	1	1	1	0	1	2	2	2	1	4	1	6	2	4	1	2	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr11:118925755G>T	ENST00000404233.3	-	6	561	c.437C>A	c.(436-438)cCt>cAt	p.P146H	HYOU1_ENST00000525859.1_Missense_Mutation_p.P146H|HYOU1_ENST00000543287.1_Missense_Mutation_p.P59H|HYOU1_ENST00000529972.1_Missense_Mutation_p.P146H	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	146					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)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CACTTCCTCAGGTGAGAACTG	0.542																																					p.P146H													.	.			0			c.C437A												112	94	100					11																	118925755		2200	4295	6495	SO:0001583	missense	10525	exon6			TCCTCAGGTGAGA	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.437C>A	11.37:g.118925755G>T	ENSP00000384144:p.Pro146His		69	0	0		49	0.06	3	NM_001130991	103	0	0	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.494902|4.494902	0.85069|0.85069	.|.	.|.	ENSG00000149428|ENSG00000149428	ENST00000541069|ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	.|T;T;T;T;T	.|0.01359	.|4.98;4.98;4.98;4.98;4.98	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|0.101842	.|0.64402	.|D	.|0.000002	.|T	.|0.14787	.|0.0357	H|H	0.96430|0.96430	3.82|3.82	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.995;0.991;0.997;0.997	.|T	.|0.04930	.|-1.0917	.|10	.|0.72032	.|D	.|0.01	.|-12.6033	16.1064|16.1064	0.81225|0.81225	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|137;190;146;146	.|B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.|.;.;HYOU1_HUMAN;.	.|H	-1|146;137;146;146;146;189;59;146	.|ENSP00000384144:P146H;ENSP00000437313:P146H;ENSP00000433397:P146H;ENSP00000442727:P59H;ENSP00000431874:P146H	.|ENSP00000278752:P137H	.|P	-|-	.|2	.|0	HYOU1|HYOU1	118430965|118430965	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.925000|0.925000	0.55904|0.55904	6.925000|6.925000	0.75829|0.75829	2.445000|2.445000	0.82738|0.82738	0.491000|0.491000	0.48974|0.48974	.|CCT			0.542	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389353.1		NM_006389		T	118925755	G	T	118925755	3	4	100	1	0	0	0	0	1	0	0	0	7485	1000	35	3	2646	3	HYOU1	11	118925755	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	33488486	118925755	16080761	45	7571											
C2CD2L	9854	broad.mit.edu;mdanderson.org	37	chr11	118983227	118983227	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacactgcctgtgggcTccccctccagaccactgtct	6	8	9	18	0	1	1	0	0	1	1	3	1	3	1	6	2	1	1	6	2	0	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr11:118983227T>C	ENST00000528586.1	+	5	434	c.364T>C	c.(364-366)Tcc>Ccc	p.S122P	C2CD2L_ENST00000336702.3_Missense_Mutation_p.S374P			O14523	C2C2L_HUMAN	C2CD2-like	374						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCCTGTGGGCTCCCCCTCCAG	0.652																																					p.S374P													C2CD2L,left_upper_lobe,carcinoma,-1,1	C2CD2L	39	1	0			c.T1120C												58	59	58					11																	118983227		2200	4295	6495	SO:0001583	missense	9854	exon9			GTGGGCTCCCCCT	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.364T>C	11.37:g.118983227T>C	ENSP00000433600:p.Ser122Pro		83	0	0		68	0.06	4	NM_014807	13	0	0	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37		.	.	.	.	.	.	.	.	.	.	T	12.19	1.863431	0.32884	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.41065	1.01;1.01	5.08	2.73	0.32206	C2 calcium/lipid-binding domain, CaLB (1);	0.243264	0.42964	N	0.000633	T	0.23688	0.0573	N	0.19112	0.55	0.35809	D	0.823718	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11421	-1.0588	10	0.30854	T	0.27	-25.9378	6.3282	0.21255	0.1408:0.0768:0.0:0.7824	.	374;374	O14523;O14523-2	C2C2L_HUMAN;.	P	374;122	ENSP00000338885:S374P;ENSP00000433600:S122P	ENSP00000338885:S374P	S	+	1	0	C2CD2L	118488437	0.372000	0.25064	1.000000	0.80357	0.985000	0.73830	0.157000	0.16402	0.405000	0.25532	0.533000	0.62120	TCC			0.652	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000388199.2		NM_014807		C	118983227	T	C	118983227	3	2	100	1	0	0	0	0	1	0	0	0	2155	1551	54	4	1154	4	C2CD2L	11	118983227	Missense_Mutation	SNP	T	TCGA-VF-A8AD-01A-11D-A435-10	57472	118983227	16023289	46	7572											
FOXM1	2305	hgsc.bcm.edu	37	chr12	2968602	2968644	+	Frame_Shift_Del	DEL	TGATTCCTCTTTGAAAGATGGGGCCGGGGAGGGCCACTCTTCC	TGATTCCTCTTTGAAAGATGGGGCCGGGGAGGGCCACTCTTCC	-																															gaatcctcccaggagtgagaTgattcctctttgaaagatgg																								rs537910596|rs138809142|rs371830965|rs556126385	byFrequency	TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	TGATTCCTCTTTGAAAGATGGGGCCGGGGAGGGCCACTCTTCC	TGATTCCTCTTTGAAAGATGGGGCCGGGGAGGGCCACTCTTCC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr12:2968602_2968644delTGATTCCTCTTTGAAAGATGGGGCCGGGGAGGGCCACTCTTCC	ENST00000359843.3	-	9	1520_1562	c.1452_1494delGGAAGAGTGGCCCTCCCCGGCCCCATCTTTCAAAGAGGAATCA	c.(1450-1494)ttggaagagtggccctccccggccccatctttcaaagaggaatcafs	p.LEEWPSPAPSFKEES484fs	FOXM1_ENST00000342628.2_Frame_Shift_Del_p.LEEWPSPAPSFKEES522fs|AC005841.1_ENST00000382678.3_5'Flank|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.LEEWPSPAPSFKEES469fs|ITFG2_ENST00000545509.1_Intron	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	484	Glu/Pro/Ser/Thr-rich.				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)	p.S536*(1)		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)			AGGAGTGAGATGATTCCTCTTTGAAAGATGGGGCCGGGGAGGGCCACTCTTCCAAGGGAGGGC	0.551																																					p.523_537del													.	FOXM1	62		1	Substitution - Nonsense(1)	large_intestine(1)	c.1567_1609del																																									SO:0001589	frameshift_variant	2305	exon10			GTGAGATGATTCC	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.1452_1494delGGAAGAGTGGCCCTCCCCGGCCCCATCTTTCAAAGAGGAATCA	12.37:g.2968602_2968644delTGATTCCTCTTTGAAAGATGGGGCCGGGGAGGGCCACTCTTCC	ENSP00000352901:p.Leu484fs		53	0	0		83	0	0	NM_202002	283	0	0	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Del	DEL	ENST00000359843.3	37	CCDS8515.1																																																																																					0.551	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000398272.1		NM_021953		-	2968644	TGATTCCTCTTTGAAAGATGGGGCCGGGGAGGGCCACTCTTCC	-	2968602	7	5	100	1	0	1	0	1	0	0	0	0	6031	1451	51	0	801	0	FOXM1	12	2968602	Frame_Shift_Del	DEL	TGATTCCTCTTTGAAAGATGGGGCCGGGGAGGGCCACTCTTCC	TCGA-VF-A8AD-01A-11D-A435-10		2968602	130883293	47	7573											
ACACB	32	broad.mit.edu	37	chr12	109629568	109629568	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgctgagaaagtgcaGgtagggagtgagctgcctgt	9	10	15	7	0	1	2	1	2	0	1	1	4	1	3	1	2	4	4	1	2	2	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr12:109629568G>T	ENST00000338432.7	+	14	2414	c.2295G>T	c.(2293-2295)caG>caT	p.Q765H	ACACB_ENST00000377854.5_Splice_Site_p.Q765H|ACACB_ENST00000377848.3_Splice_Site_p.Q765H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	765					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)	AGAAAGTGCAGGTAGGGAGTG	0.542																																					p.Q765H													.	ACACB	330		0			c.G2295T												100	87	92					12																	109629568		2203	4300	6503	SO:0001630	splice_region_variant	32	exon13			AGTGCAGGTAGGG	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.2295+1G>T	12.37:g.109629568G>T			203	0	0		225	0.02	4	NM_001093	1	0	0	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Splice_Site	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689922	0.88735	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.95788	-3.8;-3.8;-3.81	5.16	5.16	0.70880	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97461	1.0034	10	0.56958	D	0.05	.	18.7107	0.91655	0.0:0.0:1.0:0.0	.	765	O00763	ACACB_HUMAN	H	765	ENSP00000341044:Q765H;ENSP00000367079:Q765H;ENSP00000367085:Q765H	ENSP00000341044:Q765H	Q	+	3	2	ACACB	108113951	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.868000	0.99621	2.428000	0.82296	0.644000	0.83932	CAG			0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403077.1		NM_001093	Missense_Mutation	T	109629568	G	T	109629568	5	4	100	1	0	0	0	0	0	0	1	0	107	1014	35	3	2345	3	ACACB	12	109629568	Splice_Site	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	106660966	109629568	24222327	48	7574											
TBX5	6910	broad.mit.edu	37	chr12	114836479	114836479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggggagtctgggtgcaCgtacaggcggccaggcatgg	6	5	21	9	3	1	0	0	0	1	0	1	1	1	1	1	8	2	3	1	8	1	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr12:114836479C>T	ENST00000310346.4	-	5	1075	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	TBX5_ENST00000349716.5_Missense_Mutation_p.V87M|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.V137M|TBX5_ENST00000526441.1_Missense_Mutation_p.V137M	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	137					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)		TCTGGGTGCACGTACAGGCGG	0.612																																					p.V137M	NSCLC(152;1358 1980 4050 23898 40356)												.	TBX5	188		0			c.G409A												55	46	49					12																	114836479		2203	4300	6503	SO:0001583	missense	6910	exon5			GGTGCACGTACAG	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.409G>A	12.37:g.114836479C>T	ENSP00000309913:p.Val137Met		151	0	0		163	0.03	5	NM_000192	2	0	0	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205553	0.79127	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	4.41	4.41	0.53225	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93128	0.7812	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.909;0.994	D	0.93879	0.7169	10	0.72032	D	0.01	.	17.5478	0.87867	0.0:1.0:0.0:0.0	.	137;137	Q99593-2;Q99593	.;TBX5_HUMAN	M	87;137;34;137;137	ENSP00000337723:V87M;ENSP00000309913:V137M;ENSP00000384152:V137M;ENSP00000433292:V137M	ENSP00000309913:V137M	V	-	1	0	TBX5	113320862	1.000000	0.71417	0.994000	0.49952	0.468000	0.32798	7.597000	0.82733	2.425000	0.82216	0.655000	0.94253	GTG			0.612	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000388297.1		NM_080717		T	114836479	C	T	114836479	3	4	100	1	0	0	0	0	1	0	0	0	15684	536	19	1	1234	1	TBX5	12	114836479	Missense_Mutation	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	5206911	114836479	19015416	49	7575											
NCOR2	9612	mdanderson.org	37	chr12	124825195	124825195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgaagggctggggcGcggtggggaggtaggcaagg	6	5	24	6	2	0	1	0	1	0	0	0	2	0	2	0	10	1	5	0	10	3	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr12:124825195G>A	ENST00000405201.1	-	35	5291	c.5291C>T	c.(5290-5292)gCg>gTg	p.A1764V	NCOR2_ENST00000404621.1_Missense_Mutation_p.A1754V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A1755V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A1754V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1325V|NCOR2_ENST00000356219.3_Missense_Mutation_p.A1771V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1772					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)		GGGCTGGGGCGCGGTGGGGAG	0.706																																					p.A1764V													.	.			0			c.C5291T												14	22	19					12																	124825195		2028	4161	6189	SO:0001583	missense	9612	exon37			TGGGGCGCGGTGG	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.5291C>T	12.37:g.124825195G>A	ENSP00000384018:p.Ala1764Val		30	0	0		30	0.13	4	NM_006312	83	0.13	11	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334342	0.41297	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	4.13	4.13	0.48395	.	0.529823	0.18564	U	0.137525	T	0.41949	0.1181	L	0.47716	1.5	0.09310	N	1	D;D;D	0.62365	0.975;0.968;0.991	B;B;P	0.44518	0.265;0.206;0.452	T	0.39742	-0.9599	10	0.54805	T	0.06	-4.7805	16.3743	0.83379	0.0:0.0:1.0:0.0	.	1754;1755;1764	C9J0Q5;C9J239;C9JFD3	.;.;.	V	1764;1754;1771;1755;1763;1325;1754	ENSP00000384018:A1764V;ENSP00000384202:A1754V;ENSP00000348551:A1771V;ENSP00000380513:A1755V;ENSP00000385618:A1325V;ENSP00000400281:A1754V	ENSP00000348551:A1771V	A	-	2	0	NCOR2	123391148	0.845000	0.29573	0.197000	0.23402	0.939000	0.58152	4.457000	0.60088	1.854000	0.53819	0.491000	0.48974	GCG			0.706	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312		A	124825195	G	A	124825195	3	1	100	1	0	0	0	0	1	0	0	0	10253	1087	38	1	2305	1	NCOR2	12	124825195	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	9988716	124825195	9026700	50	7576											
FAM173A	65990	mdanderson.org	37	chr16	771841	771841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcctccgcccggccgtggGctacgagctgaacccctggc	4	5	14	18	5	0	1	0	1	0	0	1	2	1	1	6	4	3	2	6	4	2	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr16:771841G>T	ENST00000569529.1	+	3	608	c.308G>T	c.(307-309)gGc>gTc	p.G103V	FAM173A_ENST00000219535.3_Missense_Mutation_p.G103V|FAM173A_ENST00000564000.1_Missense_Mutation_p.G103V	NM_023933.2	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	103						integral component of membrane (GO:0016021)				pancreas(1)	1						CCGGCCGTGGGCTACGAGCTG	0.731																																					p.G103V													.	.			0			c.G308T												4	7	6					16																	771841		1977	3971	5948	SO:0001583	missense	65990	exon3			CCGTGGGCTACGA	BC002624	CCDS10423.1, CCDS59254.1	16p13.3	2008-06-19	2008-06-19	2008-06-19	ENSG00000103254	ENSG00000103254			14152	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 24"	C16orf24			Standard	NM_023933		Approved	MGC2494	uc002cje.4	Q9BQD7	OTTHUMG00000121177	ENST00000569529.1:c.308G>T	16.37:g.771841G>T	ENSP00000454380:p.Gly103Val		34	0	0		14	0.14	2	NM_023933	66	0	0	A2IDD4	Missense_Mutation	SNP	ENST00000569529.1	37	CCDS10423.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007788	0.93287	.	.	ENSG00000103254	ENST00000219535	T	0.53423	0.62	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79747	0.4499	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87106	0.2182	10	0.87932	D	0	-26.6381	17.0755	0.86585	0.0:0.0:1.0:0.0	.	103	Q9BQD7	F173A_HUMAN	V	103	ENSP00000219535:G103V	ENSP00000219535:G103V	G	+	2	0	FAM173A	711842	1.000000	0.71417	0.985000	0.45067	0.792000	0.44763	9.582000	0.98214	2.368000	0.80403	0.561000	0.74099	GGC			0.731	FAM173A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000241667.2		NM_023933		T	771841	G	T	771841	3	4	100	1	0	0	0	0	1	0	0	0	5503	1203	42	2	318	2	FAM173A	16	771841	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		771841	89582912	51	7577											
GRIN2A	2903	hgsc.bcm.edu	37	chr16	9862936	9862936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacagggtctccagctcCtccatctcacctggacagat	9	8	8	16	0	2	1	1	0	2	1	6	2	4	2	5	2	2	1	5	2	0	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr16:9862936C>T	ENST00000396573.2	-	13	2676	c.2367G>A	c.(2365-2367)gaG>gaA	p.E789E	GRIN2A_ENST00000330684.3_Silent_p.E789E|GRIN2A_ENST00000562109.1_Silent_p.E789E|GRIN2A_ENST00000535259.1_Silent_p.E632E|GRIN2A_ENST00000396575.2_Silent_p.E789E|GRIN2A_ENST00000404927.2_Silent_p.E789E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	789					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)	TCTCCAGCTCCTCCATCTCAC	0.542																																					p.E789E													.	.			0			c.G2367A												97	82	87					16																	9862936		2197	4300	6497	SO:0001819	synonymous_variant	2903	exon13			CAGCTCCTCCATC		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.2367G>A	16.37:g.9862936C>T			80	0	0		85	0.05	4	NM_000833	0		0	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																					0.542	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251930.3				T	9862936	C	T	9862936	2	4	100	1	0	0	0	0	0	0	0	1	6794	680	24	3		3	GRIN2A	16	9862936	Silent	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	9091095	9862936	80491817	52	7578											
GRIN2A	2903	mdanderson.org	37	chr16	9916124	9916124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaactgccatccttaccccGttttcaggctgaccaaggcg	9	9	9	14	2	1	1	1	1	0	0	2	2	2	1	5	2	3	2	5	2	3	3	rs376029542		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr16:9916124G>T	ENST00000396573.2	-	11	2474	c.2165C>A	c.(2164-2166)aCg>aAg	p.T722K	GRIN2A_ENST00000330684.3_Missense_Mutation_p.T722K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T722K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T565K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T722K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T722K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	722					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)	TCCTTACCCCGTTTTCAGGCT	0.468																																					p.T722K													.	.			0			c.C2165A												155	138	144					16																	9916124		2197	4300	6497	SO:0001583	missense	2903	exon10			TACCCCGTTTTCA		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.2165C>A	16.37:g.9916124G>T	ENSP00000379818:p.Thr722Lys		109	0	0		99	0.05	5	NM_001134407	0		0	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717945	0.89205	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.045738	0.85682	D	0.000000	T	0.29684	0.0741	N	0.11818	0.18	0.58432	D	0.999991	B;P;B	0.35656	0.298;0.514;0.407	B;B;B	0.28011	0.075;0.085;0.035	T	0.09729	-1.0661	9	.	.	.	.	18.7287	0.91726	0.0:0.0:1.0:0.0	.	565;722;722	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	722;722;565;722;722	ENSP00000379818:T722K;ENSP00000385872:T722K;ENSP00000441572:T565K;ENSP00000332549:T722K;ENSP00000379820:T722K	.	T	-	2	0	GRIN2A	9823625	1.000000	0.71417	0.853000	0.33588	0.902000	0.53008	5.408000	0.66368	2.655000	0.90218	0.655000	0.94253	ACG			0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251930.3				T	9916124	G	T	9916124	3	4	100	1	0	0	0	0	1	0	0	0	6794	1145	40	1	2245	1	GRIN2A	16	9916124	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	53188	9916124	80438629	53	7579											
RBL2	5934	mdanderson.org	37	chr16	53495691	53495691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaggctattgctaacaGactgaaagaaatgtttgaaa	17	9	8	7	0	0	4	0	2	0	2	0	4	0	4	1	1	3	3	1	1	6	4			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr16:53495691G>T	ENST00000262133.6	+	10	1522	c.1385G>T	c.(1384-1386)aGa>aTa	p.R462I	RBL2_ENST00000544545.1_Missense_Mutation_p.R246I|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	462	Domain A.|Pocket; binds E1A.				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						ATTGCTAACAGACTGAAAGAA	0.348																																					p.R462I													RBL2,NS,carcinoma,-1,2	RBL2	-1	2	0			c.G1385T												120	114	116					16																	53495691		2198	4299	6497	SO:0001583	missense	5934	exon10			CTAACAGACTGAA	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.1385G>T	16.37:g.53495691G>T	ENSP00000262133:p.Arg462Ile		90	0	0		96	0.05	5	NM_005611	6	0	0	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082720	0.36758	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.89343	-2.5;-2.5;-2.5	6.07	6.07	0.98685	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.93406	0.7897	L	0.56280	1.765	0.80722	D	1	D;P;P;D	0.89917	1.0;0.846;0.877;1.0	D;P;P;D	0.91635	0.999;0.679;0.678;0.999	D	0.91334	0.5092	10	0.36615	T	0.2	-20.3453	20.6593	0.99626	0.0:0.0:1.0:0.0	.	246;462;172;462	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	I	462;388;172;246	ENSP00000262133:R462I;ENSP00000443744:R388I;ENSP00000444685:R246I	ENSP00000262133:R462I	R	+	2	0	RBL2	52053192	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.810000	0.91950	2.885000	0.99019	0.655000	0.94253	AGA			0.348	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256908.3		NM_005611		T	53495691	G	T	53495691	3	4	100	1	0	0	0	0	1	0	0	0	13133	942	33	3	1423	3	RBL2	16	53495691	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	43579567	53495691	36859062	54	7580											
NLGN2	57555	mdanderson.org	37	chr17	7320871	7320871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagcggggtggtggcgtcgGggcggaccctgccgaggctc	4	5	21	11	5	0	0	0	0	0	0	2	3	0	1	2	8	2	1	2	8	1	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr17:7320871G>T	ENST00000302926.2	+	7	2334	c.2261G>T	c.(2260-2262)gGg>gTg	p.G754V	NLGN2_ENST00000575301.1_Missense_Mutation_p.G754V|RP11-104H15.7_ENST00000575310.1_RNA|SPEM1_ENST00000323675.3_5'Flank	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	754					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGTGGCGTCGGGGCGGACCCT	0.766																																					p.G754V													.	.			0			c.G2261T												5	5	5					17																	7320871		1960	3904	5864	SO:0001583	missense	57555	exon7			GCGTCGGGGCGGA	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.2261G>T	17.37:g.7320871G>T	ENSP00000305288:p.Gly754Val		11	0	0		18	0.11	2	NM_020795	14	0	0	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832898	0.32421	.	.	ENSG00000169992	ENST00000302926	T	0.66099	-0.19	3.42	3.42	0.39159	.	0.000000	0.39687	U	0.001291	T	0.47154	0.1430	L	0.29908	0.895	0.54753	D	0.99998	B	0.28552	0.215	B	0.25987	0.065	T	0.49331	-0.8951	10	0.44086	T	0.13	.	10.5035	0.44819	0.0:0.0:1.0:0.0	.	754	Q8NFZ4	NLGN2_HUMAN	V	754	ENSP00000305288:G754V	ENSP00000305288:G754V	G	+	2	0	NLGN2	7261595	0.999000	0.42202	0.985000	0.45067	0.822000	0.46500	2.546000	0.45778	1.904000	0.55121	0.448000	0.29417	GGG			0.766	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226941.2		NM_020795		T	7320871	G	T	7320871	3	4	100	1	0	0	0	0	1	0	0	0	10479	1232	43	3	2287	3	NLGN2	17	7320871	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		7320871	73874339	55	7581											
WRAP53	55135	mdanderson.org	37	chr17	7606607	7606607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcctccggtcagcgtGtgtttcctgagcccacagag	6	9	11	15	2	1	2	1	1	0	1	3	2	3	2	5	1	3	1	5	1	0	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr17:7606607G>T	ENST00000316024.5	+	10	3798	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L	EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000534050.1_Missense_Mutation_p.V451L|WRAP53_ENST00000457584.2_Missense_Mutation_p.V484L|WRAP53_ENST00000396463.2_Missense_Mutation_p.V484L|WRAP53_ENST00000431639.2_Missense_Mutation_p.V484L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	484					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						CGGTCAGCGTGTGTTTCCTGA	0.622																																					p.V484L													.	.			0			c.G1450T												77	68	71					17																	7606607		2203	4300	6503	SO:0001583	missense	55135	exon11			CAGCGTGTGTTTC	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.1450G>T	17.37:g.7606607G>T	ENSP00000324203:p.Val484Leu		33	0	0		41	0.07	3	NM_001143991	258	0	0	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP	ENST00000316024.5	37	CCDS11119.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545682	0.45280	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.79	5.45	3.45	0.39498	.	0.537635	0.18456	N	0.140692	T	0.38321	0.1036	L	0.52364	1.645	0.32685	N	0.515003	B;B	0.14805	0.011;0.011	B;B	0.10450	0.005;0.003	T	0.41484	-0.9506	10	0.26408	T	0.33	-7.0949	8.0196	0.30402	0.2519:0.0:0.7481:0.0	.	451;484	E9PMG4;Q9BUR4	.;WAP53_HUMAN	L	484;484;484;484;451	ENSP00000397219:V484L;ENSP00000324203:V484L;ENSP00000411061:V484L;ENSP00000379727:V484L;ENSP00000434999:V451L	ENSP00000324203:V484L	V	+	1	0	WRAP53	7547332	0.867000	0.29959	0.986000	0.45419	0.989000	0.77384	0.973000	0.29422	0.789000	0.33779	0.549000	0.68633	GTG			0.622	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259385.2		NM_018081		T	7606607	G	T	7606607	3	4	100	1	0	0	0	0	1	0	0	0	17424	1377	48	3	1488	3	WRAP53	17	7606607	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	285736	7606607	73588603	56	7582											
LRRC48	83450	broad.mit.edu	37	chr17	17897710	17897710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacgagcaggcgcagcGggaggagctagagaagcaca	13	1	19	8	3	0	1	0	0	0	1	0	7	0	5	0	5	4	4	0	5	2	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr17:17897710G>T	ENST00000399187.1	+	7	907	c.689G>T	c.(688-690)cGg>cTg	p.R230L	LRRC48_ENST00000584166.1_Missense_Mutation_p.R230L|LRRC48_ENST00000399182.1_Missense_Mutation_p.R230L|LRRC48_ENST00000411504.2_Missense_Mutation_p.R230L|LRRC48_ENST00000313838.8_Missense_Mutation_p.R230L	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	230						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CAGGCGCAGCGGGAGGAGCTA	0.607											OREG0024221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R230L													.	LRRC48	49		0			c.G689T												31	47	41					17																	17897710		2081	4141	6222	SO:0001583	missense	83450	exon7			CGCAGCGGGAGGA	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.689G>T	17.37:g.17897710G>T	ENSP00000382140:p.Arg230Leu		38	0	0	721	63	0.05	3	NM_031294	0		0	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	G	9.447	1.089467	0.20390	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.52754	0.65;0.77;0.65;0.77	4.31	-8.41	0.00961	.	1.135860	0.06425	N	0.723025	T	0.30947	0.0781	L	0.33485	1.01	0.09310	N	1	B;B	0.21753	0.023;0.06	B;B	0.20955	0.009;0.032	T	0.20338	-1.0278	10	0.20519	T	0.43	-4.7332	11.2475	0.49006	0.6991:0.0:0.207:0.0938	.	230;230	Q9H069;Q9H069-2	LRC48_HUMAN;.	L	230	ENSP00000326870:R230L;ENSP00000394020:R230L;ENSP00000382140:R230L;ENSP00000382136:R230L	ENSP00000326870:R230L	R	+	2	0	LRRC48	17838435	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.681000	0.05191	-1.792000	0.01259	-1.598000	0.00824	CGG			0.607	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131945.3		NM_031294		T	17897710	G	T	17897710	3	4	100	1	0	0	0	0	1	0	0	0	9021	1116	39	1	707	1	LRRC48	17	17897710	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	10291103	17897710	63297500	57	7583											
KRTAP4-3	85290	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	39323995	39323995	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggagggctggcagcActggggcctgtagcagctgg	7	5	19	10	0	0	0	0	0	0	0	0	1	0	1	1	6	4	8	1	6	1	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr17:39323995A>C	ENST00000391356.2	-	1	429	c.430T>G	c.(430-432)Tgc>Ggc	p.C144G		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	144	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCTGGCAGCACTGGGGCCTG	0.632																																					p.C144G													.	KRTAP4-3	40		0			c.T430G												16	20	19					17																	39323995		2122	4254	6376	SO:0001583	missense	85290	exon1			GGCAGCACTGGGG	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.430T>G	17.37:g.39323995A>C	ENSP00000375151:p.Cys144Gly		157	0.0063694268	1		177	0.05	9	NM_033187	0		0		Missense_Mutation	SNP	ENST00000391356.2	37	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	11.26	1.586221	0.28268	.	.	ENSG00000196156	ENST00000391356	T	0.02552	4.25	2.86	2.86	0.33363	.	.	.	.	.	T	0.18045	0.0433	H	0.94886	3.595	0.24556	N	0.993995	D	0.69078	0.997	D	0.63113	0.911	T	0.04767	-1.0928	9	0.72032	D	0.01	.	9.4336	0.38626	1.0:0.0:0.0:0.0	.	144	Q9BYR4	KRA43_HUMAN	G	144	ENSP00000375151:C144G	ENSP00000375151:C144G	C	-	1	0	KRTAP4-3	36577521	0.979000	0.34478	0.036000	0.18154	0.007000	0.05969	3.542000	0.53625	1.233000	0.43693	0.383000	0.25322	TGC			0.632	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257784.1				C	39323995	A	C	39323995	3	2	100	1	0	0	0	0	1	0	0	0	8567	159	6	4	161	4	KRTAP4-3	17	39323995	Missense_Mutation	SNP	A	TCGA-VF-A8AD-01A-11D-A435-10	21426285	39323995	41871215	58	7584											
DNAH17	8632	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	76556825	76556825	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccactcctggcacccaccgcTttgctgaagttgacgtggat	7	10	10	14	2	0	2	0	2	0	0	1	3	1	3	4	2	1	4	4	2	1	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr17:76556825T>C	ENST00000585328.1	-	13	2152	c.2028A>G	c.(2026-2028)aaA>aaG	p.K676K	DNAH17_ENST00000389840.5_Silent_p.K676K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	676	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)			CACCCACCGCTTTGCTGAAGT	0.632																																					p.K676K													.	DNAH17	347		0			c.A2028G												41	29	33					17																	76556825		2109	4092	6201	SO:0001819	synonymous_variant	8632	exon13			CACCGCTTTGCTG	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.2028A>G	17.37:g.76556825T>C			68	0.0588235294	4		80	0.06	5	NM_173628	0		0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																						0.632	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000318962.2		NM_173628		C	76556825	T	C	76556825	2	2	100	1	0	0	0	0	0	0	0	1	4606	1606	56	4		4	DNAH17	17	76556825	Silent	SNP	T	TCGA-VF-A8AD-01A-11D-A435-10	37232830	76556825	4638385	59	7585											
FN3KRP	79672	broad.mit.edu	37	chr17	80680735	80680735	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccggtttggatttgacgtGgtgacgtgctgtggatacct	5	13	15	8	3	0	2	0	2	0	0	0	4	0	4	2	4	2	2	2	4	1	3			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr17:80680735G>T	ENST00000269373.6	+	4	514	c.441G>T	c.(439-441)gtG>gtT	p.V147V	FN3KRP_ENST00000535965.1_Silent_p.V97V	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	147							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GATTTGACGTGGTGACGTGCT	0.542																																					p.V147V													FN3KRP,NS,carcinoma,+2,1	FN3KRP	31	1	0			c.G441T												219	183	195					17																	80680735		2203	4300	6503	SO:0001819	synonymous_variant	79672	exon4			TGACGTGGTGACG	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.441G>T	17.37:g.80680735G>T			246	0	0		324	0.02	6	NM_024619	172	0	0	Q969F4|Q9H0U7	Silent	SNP	ENST00000269373.6	37	CCDS11817.1																																																																																					0.542	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439219.1		NM_024619		T	80680735	G	T	80680735	2	4	100	1	0	0	0	0	0	0	0	1	5977	1335	47	3		3	FN3KRP	17	80680735	Silent	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	4123910	80680735	514475	60	7586											
OR7G3	390883	mdanderson.org	37	chr19	9237191	9237191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaacgatgaaggacagcaGaagcagcagcccacagagtt	16	4	11	10	1	0	3	0	1	0	2	0	5	0	4	1	1	5	4	1	1	3	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr19:9237191G>T	ENST00000305444.2	-	1	435	c.436C>A	c.(436-438)Ctg>Atg	p.L146M		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	146						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						AAGGACAGCAGAAGCAGCAGC	0.498																																					p.L146M													.	.			0			c.C436A												75	72	73					19																	9237191		2203	4300	6503	SO:0001583	missense	390883	exon1			ACAGCAGAAGCAG		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.436C>A	19.37:g.9237191G>T	ENSP00000302867:p.Leu146Met		113	0.0088495575	1		89	0.04	4	NM_001001958	0		0	Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072380	0.36566	.	.	ENSG00000170920	ENST00000305444	T	0.41758	0.99	3.84	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.873437	0.09263	U	0.826162	T	0.60573	0.2279	M	0.78223	2.4	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.43410	-0.9393	10	0.72032	D	0.01	.	7.3387	0.26625	0.0991:0.3265:0.5744:0.0	.	146	Q8NG95	OR7G3_HUMAN	M	146	ENSP00000302867:L146M	ENSP00000302867:L146M	L	-	1	2	OR7G3	9098191	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.846000	0.04336	0.948000	0.37687	0.551000	0.68910	CTG			0.498	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384611.1				T	9237191	G	T	9237191	3	4	100	1	0	0	0	0	1	0	0	0	11241	933	33	3	505	3	OR7G3	19	9237191	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		9237191	49891792	61	7587											
CCDC151	115948	mdanderson.org	37	chr19	11532404	11532404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggccctggagctgcgcctGcagtttcagcagcttttcct	4	12	12	13	1	1	0	1	0	0	0	2	1	2	1	3	2	5	5	3	2	0	3			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr19:11532404G>T	ENST00000356392.4	-	11	1618	c.1531C>A	c.(1531-1533)Cag>Aag	p.Q511K	CCDC151_ENST00000545100.1_Missense_Mutation_p.Q457K|CCDC151_ENST00000591179.1_Missense_Mutation_p.Q451K|RGL3_ENST00000393423.3_5'Flank|RGL3_ENST00000380456.3_5'Flank|CCDC151_ENST00000586836.1_Missense_Mutation_p.Q320K	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	511										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						AGCTGCGCCTGCAGTTTCAGC	0.627																																					p.Q511K													.	.			0			c.C1531A												76	81	79					19																	11532404		2010	4171	6181	SO:0001583	missense	115948	exon11			GCGCCTGCAGTTT		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1531C>A	19.37:g.11532404G>T	ENSP00000348757:p.Gln511Lys		157	0	0		133	0.04	5	NM_145045	7	0	0	B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	G	1.359	-0.589197	0.03799	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	T;T	0.14391	2.51;2.72	3.94	3.94	0.45596	.	0.493295	0.18915	N	0.127650	T	0.11239	0.0274	L	0.48362	1.52	0.26939	N	0.966283	P;P;P	0.41848	0.763;0.763;0.763	B;B;B	0.39840	0.311;0.311;0.311	T	0.07195	-1.0785	10	0.06099	T	0.92	-20.6107	11.3439	0.49548	0.0:0.0:1.0:0.0	.	511;511;491	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	K	457;511;490	ENSP00000442987:Q457K;ENSP00000348757:Q511K	ENSP00000348757:Q511K	Q	-	1	0	CCDC151	11393404	0.788000	0.28762	0.972000	0.41901	0.113000	0.19764	2.546000	0.45778	2.043000	0.60533	0.561000	0.74099	CAG			0.627	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458800.1		NM_145045		T	11532404	G	T	11532404	3	4	100	1	0	0	0	0	1	0	0	0	2788	1328	46	2	268	2	CCDC151	19	11532404	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	2295213	11532404	47596579	62	7588											
ZNF439	90594	hgsc.bcm.edu	37	chr19	11978338	11978338	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaggcatgtgaatgtcagGaatatggaccaaagccatgg	15	7	12	7	0	1	1	1	1	0	0	1	3	1	3	2	4	1	1	2	4	5	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr19:11978338G>T	ENST00000304030.2	+	3	654	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Nonsense_Mutation_p.E16*	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	152					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TGAATGTCAGGAATATGGACC	0.428																																					p.E152X													.	.			0			c.G454T												192	180	184					19																	11978338		2203	4300	6503	SO:0001587	stop_gained	90594	exon3			TGTCAGGAATATG	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.454G>T	19.37:g.11978338G>T	ENSP00000305077:p.Glu152*		109	0	0		123	0.04	5	NM_152262	6	0	0	Q8IYZ7|Q96SU1	Nonsense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.053313	0.36181	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	.	.	.	0.457	-0.786	0.10946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.7549	0.13078	0.4834:0.0:0.5166:0.0	.	.	.	.	X	16;152	.	ENSP00000305077:E152X	E	+	1	0	ZNF439	11839338	0.065000	0.20965	0.003000	0.11579	0.029000	0.11900	-1.552000	0.02176	-0.378000	0.07918	0.194000	0.17425	GAA			0.428	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344513.1				T	11978338	G	T	11978338	4	4	100	1	0	0	0	0	0	1	0	0	17934	1175	41	3	464	3	ZNF439	19	11978338	Nonsense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	445934	11978338	47150645	63	7589											
ANO8	57719	mdanderson.org	37	chr19	17435612	17435612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctctgaacccggctgctgCcactgctgggggtcccatct	4	10	11	16	1	2	1	0	1	2	0	4	1	4	1	4	3	4	3	4	3	1	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr19:17435612C>T	ENST00000159087.4	-	17	3403	c.3245G>A	c.(3244-3246)gGc>gAc	p.G1082D		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1082					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCGGCTGCTGCCACTGCTGGG	0.687																																					p.G1082D													.	.			0			c.G3245A												22	29	27					19																	17435612		2179	4259	6438	SO:0001583	missense	57719	exon17			CTGCTGCCACTGC	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3245G>A	19.37:g.17435612C>T	ENSP00000159087:p.Gly1082Asp		67	0	0		52	0.08	4	NM_020959	8	0	0	A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	7.563	0.665185	0.14710	.	.	ENSG00000074855	ENST00000159087	T	0.64618	-0.11	2.01	2.01	0.26516	.	0.777035	0.10805	U	0.632245	T	0.39145	0.1067	N	0.14661	0.345	0.09310	N	1	B	0.30482	0.281	B	0.22753	0.041	T	0.11591	-1.0581	10	0.15952	T	0.53	.	10.0497	0.42208	0.0:1.0:0.0:0.0	.	1082	Q9HCE9	ANO8_HUMAN	D	1082	ENSP00000159087:G1082D	ENSP00000159087:G1082D	G	-	2	0	ANO8	17296612	0.000000	0.05858	0.012000	0.15200	0.358000	0.29455	0.272000	0.18644	1.445000	0.47624	0.297000	0.19635	GGC			0.687	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462943.1		XM_050644		T	17435612	C	T	17435612	3	4	100	1	0	0	0	0	1	0	0	0	703	739	26	2	461	2	ANO8	19	17435612	Missense_Mutation	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	5457274	17435612	41693371	64	7590											
JAK3	3718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17945938	17945938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccagggtcactcagcttGatgaagggcgggctcccatc	8	7	12	14	1	2	2	2	2	0	0	4	2	3	2	3	3	1	2	3	3	1	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr19:17945938G>A	ENST00000527670.1	-	14	2030	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	JAK3_ENST00000458235.1_Silent_p.I667I|JAK3_ENST00000534444.1_Silent_p.I667I			P52333	JAK3_HUMAN	Janus kinase 3	667	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CACTCAGCTTGATGAAGGGCG	0.637		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																p.I667I				Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	.			0			c.C2001T												54	52	53					19																	17945938		2203	4300	6503	SO:0001819	synonymous_variant	3718	exon15			CAGCTTGATGAAG	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2001C>T	19.37:g.17945938G>A			132	0	0		112	0.16	18	NM_000215	9	0	0	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	CCDS12366.1																																																																																					0.637	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385549.1		NM_000215		A	17945938	G	A	17945938	2	1	100	1	0	0	0	0	0	0	0	1	7954	1280	45	3		3	JAK3	19	17945938	Silent	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	510326	17945938	41183045	65	7591											
ZNF792	126375	broad.mit.edu	37	chr19	35454540	35454540	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagcactcacctgcgcGgggtcccgcagcgccgccgc	5	4	13	19	6	1	0	1	0	0	0	3	0	3	0	5	2	3	2	5	2	1	0			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr19:35454540G>T	ENST00000404801.1	-	1	413	c.27C>A	c.(25-27)ccC>ccA	p.P9P	ZNF792_ENST00000605484.1_5'Flank	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	9					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(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCACCTGCGCGGGGTCCCGCA	0.652																																					p.P9P	GBM(1;7 183 21053 22581 22847)												.	ZNF792	46		0			c.C27A												12	18	16					19																	35454540		1980	4141	6121	SO:0001819	synonymous_variant	126375	exon1			CTGCGCGGGGTCC	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.27C>A	19.37:g.35454540G>T			228	0.0043859649	1		224	0.02	5	NM_175872	0		0	B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	CCDS12440.2																																																																																					0.652	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317673.1		NM_175872		T	35454540	G	T	35454540	2	4	100	1	0	0	0	0	0	0	0	1	18187	1103	39	1		1	ZNF792	19	35454540	Silent	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	17508602	35454540	23674443	66	7592											
FFAR1	2864	mdanderson.org	37	chr19	35842505	35842505	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctatgtggccgcctttgcGctgggcttcccgctcaacgt	3	12	11	15	4	2	0	1	0	1	0	3	0	3	0	3	2	2	3	3	2	2	3			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr19:35842505G>T	ENST00000246553.2	+	1	61	c.51G>T	c.(49-51)gcG>gcT	p.A17A		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	17					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCGCCTTTGCGCTGGGCTTCC	0.706																																					p.A17A													.	.			0			c.G51T												15	11	12					19																	35842505		2118	4148	6266	SO:0001819	synonymous_variant	2864	exon1			CTTTGCGCTGGGC	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"GPCR / Class A : Fatty acid receptors"	4498	protein-coding gene	gene with protein product		603820	"G protein-coupled receptor 40"	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.51G>T	19.37:g.35842505G>T			29	0	0		22	0.09	2	NM_005303	0		0	Q0VAS2|Q4VBL4	Silent	SNP	ENST00000246553.2	37	CCDS12458.1																																																																																					0.706	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466112.2		NM_005303		T	35842505	G	T	35842505	2	4	100	1	0	0	0	0	0	0	0	1	5840	1074	38	1		1	FFAR1	19	35842505	Silent	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	387965	35842505	23286478	67	7593											
SCAF1	58506	mdanderson.org	37	chr19	50161566	50161566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcaagcacggtcgcaaGccaggggaccccccagggcc	8	3	13	17	3	0	0	0	0	0	0	2	1	1	1	6	4	2	3	6	4	2	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr19:50161566G>T	ENST00000360565.3	+	11	3973	c.3849G>T	c.(3847-3849)aaG>aaT	p.K1283N	IRF3_ENST00000599680.1_5'Flank	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1283	Necessary for interaction with the CTD domain of POLR2A.				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)		ACGGTCGCAAGCCAGGGGACC	0.692																																					p.K1283N													.	.			0			c.G3849T												14	14	14					19																	50161566		2197	4294	6491	SO:0001583	missense	58506	exon11			TCGCAAGCCAGGG	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.3849G>T	19.37:g.50161566G>T	ENSP00000353769:p.Lys1283Asn		31	0	0		34	0.09	3	NM_021228	271	0	0	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089051	0.36855	.	.	ENSG00000126461	ENST00000360565	T	0.35973	1.28	4.7	2.51	0.30379	.	0.000000	0.40908	D	0.000995	T	0.42359	0.1199	L	0.27053	0.805	0.33977	D	0.647491	D	0.89917	1.0	D	0.74348	0.983	T	0.56038	-0.8045	10	0.62326	D	0.03	-24.6167	10.2851	0.43562	0.1702:0.0:0.8298:0.0	.	1283	Q9H7N4	SFR19_HUMAN	N	1283	ENSP00000353769:K1283N	ENSP00000353769:K1283N	K	+	3	2	SCAF1	54853378	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.186000	0.32078	1.204000	0.43247	0.655000	0.94253	AAG			0.692	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465764.1		NM_021228		T	50161566	G	T	50161566	3	4	100	1	0	0	0	0	1	0	0	0	13891	962	34	2	3887	2	SCAF1	19	50161566	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	14319061	50161566	8967417	68	7594											
TMX4	56255	broad.mit.edu	37	chr20	8000252	8000252	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggccgcagcgcccAcccgccatgttgggcgccga	5	4	15	17	6	0	0	0	0	0	0	0	1	0	0	5	2	3	3	5	2	0	1			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr20:8000252A>C	ENST00000246024.2	-	1	224	c.9T>G	c.(7-9)ggT>ggG	p.G3G	RP5-971N18.3_ENST00000607924.1_RNA|RP5-971N18.3_ENST00000457707.1_RNA	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	3					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CGCAGCGCCCACCCGCCATGT	0.761																																					p.G3G													.	TMX4	39		0			c.T9G												1	1	1					20																	8000252		958	2169	3127	SO:0001819	synonymous_variant	56255	exon1			GCGCCCACCCGCC		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.9T>G	20.37:g.8000252A>C			39	0.4102564103	16		35	0.31	11	NM_021156	5	0	0	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	CCDS13101.1																																																																																					0.761	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000077928.2		NM_021156		C	8000252	A	C	8000252	2	2	100	1	0	0	0	0	0	0	0	1	16292	146	6	4		4	TMX4	20	8000252	Silent	SNP	A	TCGA-VF-A8AD-01A-11D-A435-10		8000252	55025268	69	7595											
ELMO2	63916	hgsc.bcm.edu	37	chr20	45014804	45014804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccacggtgatttcctcGgctatcttctggtacagact	6	14	9	12	2	2	2	0	1	2	1	5	2	4	2	2	3	1	2	2	3	2	4	rs201990540	byFrequency	TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr20:45014804G>A	ENST00000290246.6	-	9	830	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ELMO2_ENST00000439931.2_Silent_p.A212A|ELMO2_ENST00000352077.2_Silent_p.A210A|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Silent_p.A212A|ELMO2_ENST00000372176.1_Silent_p.A124A|ELMO2_ENST00000445496.2_Silent_p.A29A	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	212					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TGATTTCCTCGGCTATCTTCT	0.527													g|||	3	0.000599042	0.0015	0.0014	5008	,	,		19968	0		0	False		,,,				2504	0				p.A212A													ELMO2,NS,carcinoma,-1,1	ELMO2	-1	1	0			c.C636T												135	124	128					20																	45014804		2203	4300	6503	SO:0001819	synonymous_variant	63916	exon8			TTCCTCGGCTATC	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.636C>T	20.37:g.45014804G>A			77	0.025974026	2		79	0.08	6	NM_182764	16	0	0	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	CCDS13398.1																																																																																			0.002		0.527	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080466.1		NM_022086		A	45014804	G	A	45014804	2	1	100	1	0	0	0	0	0	0	0	1	5073	1103	39	1		1	ELMO2	20	45014804	Silent	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	37014552	45014804	18010716	70	7596											
PRIC285	85441	mdanderson.org	37	chr20	62191976	62191976	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcccaggacactgggcggCctcctcaggccctgccacgt	5	6	13	17	2	1	0	1	0	0	0	2	1	2	1	5	5	1	0	5	5	0	0	rs573860047		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr20:62191976C>T	ENST00000467148.1	-	16	7425	c.7356G>A	c.(7354-7356)agG>agA	p.R2452R	HELZ2_ENST00000427522.2_Silent_p.R1883R	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2452	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)										CACTGGGCGGCCTCCTCAGGC	0.642													C|||	1	0.000199681	0	0	5008	,	,		15934	0		0	False		,,,				2504	0.001				p.R2452R													.	.			0			c.G7356A												64	67	66					20																	62191976		2203	4299	6502	SO:0001819	synonymous_variant	85441	exon17			GGGCGGCCTCCTC	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.7356G>A	20.37:g.62191976C>T			43	0	0		44	0.09	4	NM_001037335	103	0	0	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																					0.642	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354127.1		NM_001037335		T	62191976	C	T	62191976	2	4	100	1	0	0	0	0	0	0	0	1	12505	738	26	2		2	PRIC285	20	62191976	Silent	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	17177172	62191976	833544	71	7597											
KRTAP13-1	140258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr21	31768921	31768921	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatcaggcttctactatTgatcatcttgttaaattgct	9	17	8	7	0	4	1	2	1	2	0	4	2	4	2	0	2	2	3	0	2	4	7	rs141793094		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr21:31768921T>C	ENST00000355459.2	+	1	530	c.517T>C	c.(517-519)Tga>Cga	p.*173R		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	0						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCTACTATTGATCATCTTG	0.438																																					p.X173R													.	.			0			c.T517C							T	ARG/stop	0,4406		0,0,2203	37	36	36		517	1.2	0	21	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	yes	stop-lost	KRTAP13-1	NM_181599.2		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		173/173	31768921	1,13005	2203	4300	6503	SO:0001578	stop_lost	140258	exon1			TACTATTGATCAT	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.517T>C	21.37:g.31768921T>C	ENSP00000347635:p.*173Argext*4		164	0	0		170	0.28	47	NM_181599	0		0	Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	T	9.393	1.076040	0.20227	0.0	1.16E-4	ENSG00000198390	ENST00000355459	.	.	.	5.2	1.2	0.21068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0449	0.03558	0.1529:0.0879:0.3163:0.4429	.	.	.	.	R	173	.	.	X	+	1	0	KRTAP13-1	30690792	0.000000	0.05858	0.024000	0.17045	0.348000	0.29142	0.145000	0.16157	0.469000	0.27268	0.528000	0.53228	TGA	0		0.438	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128252.3				C	31768921	T	C	31768921	4	2	100	1	0	0	0	0	0	0	0	0	8537	1825	63	4	519	4	KRTAP13-1	21	31768921	Nonstop_Mutation	SNP	T	TCGA-VF-A8AD-01A-11D-A435-10		31768921	16360974	72	7598											
HIRA	7290	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	19348846	19348846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacatggcctccttctctgCggttagggcagctggagact	7	10	12	12	1	1	1	0	0	1	1	3	2	2	1	2	4	2	3	2	4	1	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr22:19348846C>T	ENST00000263208.5	-	17	2255	c.1999G>A	c.(1999-2001)Gca>Aca	p.A667T	HIRA_ENST00000541063.1_Missense_Mutation_p.A623T|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Missense_Mutation_p.A623T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	667	Interaction with CCNA1.|Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCCTTCTCTGCGGTTAGGGCA	0.547																																					p.A667T													HIRA,NS,carcinoma,0,1	HIRA	0	1	0			c.G1999A												113	104	107					22																	19348846		2203	4300	6503	SO:0001583	missense	7290	exon17			TCTCTGCGGTTAG	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1999G>A	22.37:g.19348846C>T	ENSP00000263208:p.Ala667Thr		108	0	0		143	0.04	6	NM_003325	56	0	0	Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	4.020	0.001125	0.07819	.	.	ENSG00000100084	ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T	0.71341	-0.56;-0.41;-0.37	5.13	-2.35	0.06684	.	0.497292	0.21458	N	0.074206	T	0.36799	0.0980	N	0.24115	0.695	0.21878	N	0.999492	B;P	0.37997	0.007;0.614	B;B	0.25614	0.003;0.062	T	0.42275	-0.9461	10	0.13108	T	0.6	-0.0095	0.8245	0.01118	0.3467:0.2619:0.0989:0.2925	.	623;667	F5H4M2;P54198	.;HIRA_HUMAN	T	667;623;176;623	ENSP00000263208:A667T;ENSP00000446073:A623T;ENSP00000441870:A623T	ENSP00000263208:A667T	A	-	1	0	HIRA	17728846	0.012000	0.17670	0.037000	0.18230	0.146000	0.21551	0.101000	0.15251	-0.454000	0.07066	-0.266000	0.10368	GCA			0.547	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316488.2		NM_003325		T	19348846	C	T	19348846	3	4	100	1	0	0	0	0	1	0	0	0	7135	768	27	1	1090	1	HIRA	22	19348846	Missense_Mutation	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10		19348846	31955720	73	7599											
ZNF280B	140883	mdanderson.org	37	chr22	22842206	22842206	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgaagaggttccagTgacacttgaatagtaacttt	11	12	10	8	0	0	4	0	3	0	1	1	4	1	4	2	2	1	3	2	2	4	5	rs11109	byFrequency	TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr22:22842206T>A	ENST00000406426.1	-	4	2260	c.1518A>T	c.(1516-1518)tcA>tcT	p.S506S	ZNF280B_ENST00000360412.2_Silent_p.S506S			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	506					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)		GAGGTTCCAGTGACACTTGAA	0.423																																					p.S506S													.	.			0			c.A1518T												146	131	136					22																	22842206		2203	4300	6503	SO:0001819	synonymous_variant	140883	exon4			TTCCAGTGACACT	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.1518A>T	22.37:g.22842206T>A			104	0	0		117	0.21	24	NM_080764	6	0.67	4		Silent	SNP	ENST00000406426.1	37	CCDS13799.1																																																																																					0.423	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321170.2		NM_080764		A	22842206	T	A	22842206	2	1	100	1	0	0	0	0	0	0	0	1	17838	1683	59	5		5	ZNF280B	22	22842206	Silent	SNP	T	TCGA-VF-A8AD-01A-11D-A435-10	3493360	22842206	28462360	74	7600											
MTMR3	8897	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	30416630	30416630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttgcaccacaagtggctGcatagccactcaggaaggcc	12	6	10	13	0	1	0	1	0	0	0	1	1	1	1	3	3	4	3	3	3	4	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr22:30416630G>A	ENST00000401950.2	+	17	3324	c.2982G>A	c.(2980-2982)ctG>ctA	p.L994L	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.L994L|MTMR3_ENST00000323630.5_Silent_p.L858L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.L994L|MTMR3_ENST00000333027.3_Silent_p.L994L	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	994					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAAGTGGCTGCATAGCCACT	0.587																																					p.L994L													.	MTMR3	106		0			c.G2982A												68	53	58					22																	30416630		2203	4300	6503	SO:0001819	synonymous_variant	8897	exon17			GTGGCTGCATAGC	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2982G>A	22.37:g.30416630G>A			123	0	0		135	0.04	6	NM_021090	34	0	0	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																					0.587	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000322066.1		NM_021090		A	30416630	G	A	30416630	2	1	100	1	0	0	0	0	0	0	0	1	9961	1306	46	2		2	MTMR3	22	30416630	Silent	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	7574424	30416630	20887936	75	7601											
TNRC6B	23112	broad.mit.edu	37	chr22	40658045	40658045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttactaaaacgtgggCagccccctccaccgtcctgc	9	8	9	15	2	0	0	0	0	0	0	2	0	2	0	5	1	4	2	5	1	4	2	rs541448431	byFrequency	TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr22:40658045C>A	ENST00000454349.2	+	4	536	c.325C>A	c.(325-327)Cag>Aag	p.Q109K	TNRC6B_ENST00000301923.9_Missense_Mutation_p.Q145K|TNRC6B_ENST00000402203.1_Missense_Mutation_p.Q145K|TNRC6B_ENST00000335727.9_Missense_Mutation_p.Q109K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	109	Interaction with argonaute proteins.				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						AAAACGTGGGCAGCCCCCTCC	0.647													C|||	13	0.00259585	8e-04	0	5008	,	,		14723	0.0089		0.001	False		,,,				2504	0.002				p.Q145K													.	TNRC6B	195		0			c.C433A												18	22	21					22																	40658045		2059	4162	6221	SO:0001583	missense	23112	exon7			CGTGGGCAGCCCC	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.325C>A	22.37:g.40658045C>A	ENSP00000401946:p.Gln109Lys		219	0.0091324201	2		175	0.03	6	NM_001024843	3	0	0	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587389	0.96590	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	L	0.56199	1.76	0.58432	D	0.999999	D;D;P	0.63880	0.993;0.99;0.901	P;P;B	0.56216	0.714;0.794;0.399	T	0.35251	-0.9796	10	0.62326	D	0.03	-0.4627	20.5373	0.99239	0.0:1.0:0.0:0.0	.	109;109;145	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	K	145;145;109;109;109	ENSP00000306759:Q145K;ENSP00000384795:Q145K;ENSP00000401946:Q109K;ENSP00000338371:Q109K	ENSP00000306759:Q145K	Q	+	1	0	TNRC6B	38987991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	CAG			0.647	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding						A	40658045	C	A	40658045	3	1	100	1	0	0	0	0	1	0	0	0	16364	711	25	2	460	2	TNRC6B	22	40658045	Missense_Mutation	SNP	C	TCGA-VF-A8AD-01A-11D-A435-10	10241415	40658045	10646521	76	7602											
FAM116B	414918	mdanderson.org	37	chr22	50752284	50752284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccttgtcgcggtggaggtGggccgtgtaagcggtgtaga	5	9	19	8	5	0	1	0	0	0	1	1	2	0	2	2	5	1	2	2	5	2	3			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chr22:50752284G>T	ENST00000413817.3	-	14	1233	c.1162C>A	c.(1162-1164)Cac>Aac	p.H388N	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	388					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CGGTGGAGGTGGGCCGTGTAA	0.672																																					p.H388N													.	.			0			c.C1162A												33	38	37					22																	50752284		2069	4202	6271	SO:0001583	missense	414918	exon14			GGAGGTGGGCCGT	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.1162C>A	22.37:g.50752284G>T	ENSP00000391524:p.His388Asn		66	0	0		43	0.07	3	NM_001001794	31	0	0	A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452810	0.43531	.	.	ENSG00000205593	ENST00000413817	.	.	.	4.85	-1.9	0.07665	.	0.272209	0.41001	D	0.000971	T	0.16385	0.0394	N	0.14661	0.345	0.23943	N	0.996398	P;P	0.34909	0.475;0.475	B;B	0.29176	0.099;0.099	T	0.16541	-1.0399	9	0.48119	T	0.1	-11.564	9.4529	0.38736	0.5513:0.0:0.4487:0.0	.	388;388	Q8NEG7;C9JIV6	F116B_HUMAN;.	N	388	.	ENSP00000391524:H388N	H	-	1	0	FAM116B	49094856	0.996000	0.38824	0.980000	0.43619	0.587000	0.36485	1.086000	0.30853	-0.121000	0.11787	0.462000	0.41574	CAC			0.672	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316845.3		NM_001001794		T	50752284	G	T	50752284	3	4	100	1	0	0	0	0	1	0	0	0	5418	1348	47	3	623	3	FAM116B	22	50752284	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	10094239	50752284	552282	77	7603											
RIBC1	158787	broad.mit.edu	37	chrX	53455230	53455230	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccttgctcaccacccccaGgtaccagccaggtgcagtat	9	8	8	16	0	1	0	1	0	0	0	2	0	2	0	6	2	4	4	6	2	2	3			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chrX:53455230G>T	ENST00000375327.3	+	5	352		c.e5-1		RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000457095.1_Splice_Site	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1											lung(2)	2						ACCACCCCCAGGTACCAGCCA	0.527																																					.													.	RIBC1	20		0			c.200-1G>T												73	64	67					X																	53455230		2203	4300	6503	SO:0001630	splice_region_variant	158787	exon5			CCCCCAGGTACCA	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.200-1G>T	X.37:g.53455230G>T			101	0	0		106	0.04	4	NM_144968	0		0	B4E297|E9PDU2|Q5H931|Q96A80	Splice_Site	SNP	ENST00000375327.3	37	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624164	0.46840	.	.	ENSG00000158423	ENST00000329209;ENST00000457095;ENST00000375327	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4798	0.84155	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIBC1	53471955	1.000000	0.71417	0.583000	0.28640	0.705000	0.40729	5.369000	0.66138	2.147000	0.66899	0.513000	0.50165	.			0.527	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056762.1		NM_144968	Intron	T	53455230	G	T	53455230	5	4	100	1	0	0	0	0	0	0	1	0	13375	1014	35	3	209	3	RIBC1	23	53455230	Splice_Site	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10		53455230	101815330	78	7604											
EDA2R	60401	broad.mit.edu	37	chrX	65819573	65819573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtcgtcctcgaggataGggttaagtggctgggtctga	7	11	16	7	2	1	1	0	1	1	0	4	3	2	2	1	4	1	3	1	4	2	2			TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chrX:65819573G>T	ENST00000374719.3	-	6	703	c.647C>A	c.(646-648)cCt>cAt	p.P216H	EDA2R_ENST00000456230.2_Missense_Mutation_p.P216H|EDA2R_ENST00000450752.1_Missense_Mutation_p.P237H|EDA2R_ENST00000253392.5_Missense_Mutation_p.P237H|EDA2R_ENST00000451436.2_Missense_Mutation_p.P92H|EDA2R_ENST00000396050.1_Missense_Mutation_p.P216H	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	216					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CTCGAGGATAGGGTTAAGTGG	0.572																																					p.P237H													.	EDA2R	30		0			c.C710A												85	51	63					X																	65819573		2203	4300	6503	SO:0001583	missense	60401	exon6			AGGATAGGGTTAA	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"Tumor necrosis factor receptor superfamily"	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.647C>A	X.37:g.65819573G>T	ENSP00000363851:p.Pro216His		147	0	0		170	0.03	5	NM_001242310	4	0	0	Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392787	0.42410	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	3.45	2.51	0.30379	.	0.458353	0.15915	N	0.238415	T	0.29458	0.0734	N	0.24115	0.695	0.19775	N	0.999959	D;D;P	0.89917	1.0;0.998;0.926	D;P;B	0.68353	0.957;0.847;0.423	T	0.03139	-1.1068	10	0.56958	D	0.05	-4.6581	5.5956	0.17325	0.0:0.2122:0.568:0.2198	.	92;237;216	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	H	216;216;92;237;216;237	ENSP00000363851:P216H;ENSP00000379365:P216H;ENSP00000253392:P237H;ENSP00000393935:P216H;ENSP00000402929:P237H	ENSP00000253392:P237H	P	-	2	0	EDA2R	65736298	0.457000	0.25752	0.942000	0.38095	0.821000	0.46438	1.385000	0.34408	1.573000	0.49748	0.523000	0.50628	CCT			0.572	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057002.1		NM_021783		T	65819573	G	T	65819573	3	4	100	1	0	0	0	0	1	0	0	0	4909	1000	35	3	250	3	EDA2R	23	65819573	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	12364343	65819573	89450987	79	7605											
EDA	1896	broad.mit.edu	37	chrX	69176947	69176947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtaggcgtgttcgccGcaataaaagaagcaaaagca	18	5	11	7	3	0	2	0	0	0	2	1	2	0	2	1	1	2	5	1	1	8	3	rs132630314		TCGA-VF-A8AD-01A-11D-A435-10	TCGA-VF-A8AD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feefbc56-4b2f-46b6-a16f-6b43fd128cb8	435363f1-972b-4055-bf34-528f12078dab	g.chrX:69176947G>A	ENST00000374552.4	+	2	709	c.467G>A	c.(466-468)cGc>cAc	p.R156H	EDA_ENST00000524573.1_Missense_Mutation_p.R156H|EDA_ENST00000374553.2_Missense_Mutation_p.R156H|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	156			R -> C (in XHED; abolishes proteolytic processing). {ECO:0000269|PubMed:11279189, ECO:0000269|PubMed:11295832, ECO:0000269|PubMed:18231121}.|R -> G (in XHED). {ECO:0000269|PubMed:20979233}.|R -> H (in XHED; abolishes proteolytic processing). {ECO:0000269|PubMed:11279189, ECO:0000269|PubMed:11295832, ECO:0000269|PubMed:18231121}.|R -> S (in XHED). {ECO:0000269|PubMed:10951256}.		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						CGTGTTCGCCGCAATAAAAGA	0.358																																					p.R156H													.	EDA	61		0			c.G467A	GRCh37	CM980584	EDA	M	rs132630314							106	100	102					X																	69176947		2203	4300	6503	SO:0001583	missense	1896	exon2			TTCGCCGCAATAA	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.467G>A	X.37:g.69176947G>A	ENSP00000363680:p.Arg156His		347	0	0		398	0.02	6	NM_001399	1	0	0	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451287	0.63290	.	.	ENSG00000158813	ENST00000513754;ENST00000374552;ENST00000374553;ENST00000524573;ENST00000503592	T;T;T;D	0.92397	-0.56;-0.56;-0.56;-3.03	4.97	4.97	0.65823	.	0.305432	0.32473	N	0.006056	D	0.92270	0.7548	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.65573	0.936;0.865;0.936	D	0.92498	0.6006	10	0.59425	D	0.04	-10.4176	12.4634	0.55745	0.0:0.0:1.0:0.0	.	156;156;156	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	H	156;156;156;156;24	ENSP00000363680:R156H;ENSP00000363681:R156H;ENSP00000432585:R156H;ENSP00000423037:R24H	ENSP00000363680:R156H	R	+	2	0	EDA	69093672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.022000	0.64078	2.434000	0.82447	0.594000	0.82650	CGC			0.358	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000057048.2		NM_001399		A	69176947	G	A	69176947	3	1	100	1	0	0	0	0	1	0	0	0	4908	1087	38	1	574	1	EDA	23	69176947	Missense_Mutation	SNP	G	TCGA-VF-A8AD-01A-11D-A435-10	3357374	69176947	86093613	80	7606											
MIB2	142678	mdanderson.org	37	chr1	1562341	1562341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctaccggcccgaggaggatgCcaacctggacgtggccgagc	8	4	15	14	4	0	0	0	0	0	0	0	5	0	3	5	5	4	0	5	5	2	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr1:1562341C>T	ENST00000357210.4	+	10	1592	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	MIB2_ENST00000504599.1_Missense_Mutation_p.A415V|MIB2_ENST00000378708.1_Missense_Mutation_p.A365V|MIB2_ENST00000360522.4_Missense_Mutation_p.A424V|MIB2_ENST00000520777.1_Missense_Mutation_p.A512V|MIB2_ENST00000505820.2_Missense_Mutation_p.A516V|MIB2_ENST00000378710.3_Missense_Mutation_p.A423V|MIB2_ENST00000355826.5_Missense_Mutation_p.A502V|MIB2_ENST00000518681.1_Missense_Mutation_p.A451V|MIB2_ENST00000378712.1_Missense_Mutation_p.A336V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	459					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGGAGGATGCCAACCTGGAC	0.667																																					p.A516V													.	.			0			c.C1547T												32	37	35					1																	1562341		2139	4232	6371	SO:0001583	missense	142678	exon10			AGGATGCCAACCT	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1376C>T	1.37:g.1562341C>T	ENSP00000349741:p.Ala459Val		35	0	0		32	0.09	3	NM_080875	26	0	0	A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37		.	.	.	.	.	.	.	.	.	.	C	25.7	4.665519	0.88251	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	T;T;T;T;T;T;T;T;T;T	0.67698	1.23;1.25;1.29;1.25;1.23;1.23;1.22;-0.28;1.24;1.25	4.59	4.59	0.56863	.	0.055265	0.64402	D	0.000001	T	0.70413	0.3221	L	0.50333	1.59	0.58432	D	0.999994	P;P;P;B;P;D;P	0.54047	0.58;0.892;0.848;0.444;0.939;0.964;0.63	P;P;P;B;P;P;B	0.51170	0.559;0.459;0.521;0.356;0.556;0.661;0.341	T	0.74822	-0.3534	10	0.62326	D	0.03	-4.2661	16.3867	0.83507	0.0:1.0:0.0:0.0	.	424;365;336;451;512;445;459	Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;.;.;MIB2_HUMAN	V	512;459;424;423;502;451;516;336;415;365	ENSP00000428660:A512V;ENSP00000349741:A459V;ENSP00000353713:A424V;ENSP00000367982:A423V;ENSP00000348081:A502V;ENSP00000428264:A451V;ENSP00000426103:A516V;ENSP00000367984:A336V;ENSP00000426128:A415V;ENSP00000367980:A365V	ENSP00000348081:A502V	A	+	2	0	MIB2	1552204	1.000000	0.71417	0.954000	0.39281	0.782000	0.44232	4.547000	0.60712	2.093000	0.63338	0.455000	0.32223	GCC			0.667	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_080875		T	1562341	C	T	1562341	3	4	101	1	0	0	0	0	1	0	0	0	9583	739	26	2	1585	2	MIB2	1	1562341	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10		1562341	247688280	1	7607											
HSPG2	3339	mdanderson.org	37	chr1	22202511	22202511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgggtcactgtgaagcGcagctctcctccataggagg	7	9	12	13	1	3	1	1	1	2	0	5	2	4	2	3	3	2	2	3	3	2	1	rs377016014		TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr1:22202511G>T	ENST00000374695.3	-	24	3107	c.3028C>A	c.(3028-3030)Cgc>Agc	p.R1010S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1010	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACTGTGAAGCGCAGCTCTCCT	0.607																																					p.R1010S													HSPG2,NS,carcinoma,+1,1	HSPG2	1	1	0			c.C3028A												43	48	47					1																	22202511		2203	4300	6503	SO:0001583	missense	3339	exon24			TGAAGCGCAGCTC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3028C>A	1.37:g.22202511G>T	ENSP00000363827:p.Arg1010Ser		53	0	0		47	0.06	3	NM_005529	0		0	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049245	0.55218	.	.	ENSG00000142798	ENST00000374695	T	0.34072	1.38	5.51	4.54	0.55810	Laminin B type IV (2);Laminin B, subgroup (1);	0.181461	0.26995	N	0.021453	T	0.38241	0.1033	L	0.41236	1.265	0.35079	D	0.763245	P	0.48503	0.911	P	0.48840	0.592	T	0.53401	-0.8444	10	0.72032	D	0.01	.	12.8054	0.57610	0.0:0.0:0.8357:0.1642	.	1010	P98160	PGBM_HUMAN	S	1010	ENSP00000363827:R1010S	ENSP00000363827:R1010S	R	-	1	0	HSPG2	22075098	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.645000	0.46621	2.586000	0.87340	0.561000	0.74099	CGC			0.607	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007598.1		NM_005529		T	22202511	G	T	22202511	3	4	101	1	0	0	0	0	1	0	0	0	7445	1087	38	1	10443	1	HSPG2	1	22202511	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	20640170	22202511	227048110	2	7608											
MANEAL	149175	mdanderson.org	37	chr1	38260364	38260364	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcccgggaccccgaagtGctgcgggagcatatgaccca	9	5	13	14	3	0	1	0	1	0	0	1	4	1	3	4	2	4	3	4	2	2	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr1:38260364G>T	ENST00000373045.6	+	1	891	c.510G>T	c.(508-510)gtG>gtT	p.V170V	MANEAL_ENST00000525897.1_5'Flank|MANEAL_ENST00000397631.3_Silent_p.V170V|MANEAL_ENST00000329006.5_5'Flank	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	170						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCCCGAAGTGCTGCGGGAGC	0.716																																					p.V170V													.	.			0			c.G510T												15	18	17					1																	38260364		1702	3883	5585	SO:0001819	synonymous_variant	149175	exon1			CGAAGTGCTGCGG	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.510G>T	1.37:g.38260364G>T			30	0	0		45	0.07	3	NM_001113482	4	0	0	Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Silent	SNP	ENST00000373045.6	37	CCDS44110.1																																																																																					0.716	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012469.2		NM_152496		T	38260364	G	T	38260364	2	4	101	1	0	0	0	0	0	0	0	1	9238	1306	46	2		2	MANEAL	1	38260364	Silent	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	16057853	38260364	210990257	3	7609											
ANKRD35	148741	hgsc.bcm.edu;broad.mit.edu	37	chr1	145561847	145561847	+	Frame_Shift_Del	DEL	C	C	-																															aaaggatgctgcccggggggCtttgtcaagaccggtcatgg																										TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr1:145561847delC	ENST00000355594.4	+	10	1622	c.1535delC	c.(1534-1536)gctfs	p.A512fs		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	512										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)					GCCCGGGGGGCTTTGTCAAGA	0.632																																					p.A512fs	Melanoma(9;127 754 22988 51047)												.	ANKRD35	96		0			c.1534delG												86	102	97					1																	145561847		2202	4299	6501	SO:0001589	frameshift_variant	148741	exon10			GGGGGGCTTTGTC	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.1535delC	1.37:g.145561847delC	ENSP00000347802:p.Ala512fs		184	0	0		160	0.07	11	NM_144698	0		0	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Frame_Shift_Del	DEL	ENST00000355594.4	37	CCDS919.1																																																																																					0.632	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000038515.1		NM_144698		-	145561847	C	-	145561847	7	5	101	1	0	1	0	1	0	0	0	0	664	797	28	0	1573	0	ANKRD35	1	145561847	Frame_Shift_Del	DEL	C	TCGA-VF-A8AE-01A-11D-A435-10	107301483	145561847	103688774	4	7610											
OR10K1	391109	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	158435624	158435624	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtcccagaagaagacCatttctttcctgggctgtgc	7	12	10	12	0	1	3	0	0	1	3	3	3	3	3	3	1	2	2	3	1	2	2			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr1:158435624C>A	ENST00000289451.2	+	1	353	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T91T(1)		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)					AGAAGAAGACCATTTCTTTCC	0.483																																					p.T91T													OR10K1,NS,carcinoma,0,1	OR10K1	0	1	1	Substitution - coding silent(1)	lung(1)	c.C273A												192	187	189					1																	158435624		2203	4298	6501	SO:0001819	synonymous_variant	391109	exon1			GAAGACCATTTCT	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.273C>A	1.37:g.158435624C>A			175	0	0		174	0.06	11	NM_001004473	0		0	Q6IFS2	Silent	SNP	ENST00000289451.2	37	CCDS30897.1																																																																																					0.483	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046367.1				A	158435624	C	A	158435624	2	1	101	1	0	0	0	0	0	0	0	1	10930	581	21	3		3	OR10K1	1	158435624	Silent	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	12873777	158435624	90814997	5	7611											
CEP170	9859	broad.mit.edu;mdanderson.org	37	chr1	243354757	243354757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacttcttcatttgcagctGcagattgttcctcaacttgc	7	16	7	11	0	3	1	2	0	1	1	4	1	4	1	1	0	6	5	1	0	2	7			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr1:243354757G>A	ENST00000366542.1	-	8	722	c.671C>T	c.(670-672)gCa>gTa	p.A224V	CEP170_ENST00000366543.1_Missense_Mutation_p.A224V|CEP170_ENST00000366544.1_Missense_Mutation_p.A224V	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	224						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATTTGCAGCTGCAGATTGTTC	0.383																																					p.A224V													.	CEP170	153		0			c.C671T												12	9	10					1																	243354757		1693	3874	5567	SO:0001583	missense	9859	exon8			GCAGCTGCAGATT	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.671C>T	1.37:g.243354757G>A	ENSP00000355500:p.Ala224Val		68	0	0		46	0.09	4	NM_001042405	2	0	0	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.907963|2.907963	0.52333|0.52333	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.30981|.	1.51;1.51;1.51|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.336411|.	0.30850|.	N|.	0.008751|.	T|.	0.67021|.	0.2849|.	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D;B;P|.	0.55385|.	0.971;0.07;0.893|.	P;B;B|.	0.56042|.	0.79;0.038;0.256|.	T|.	0.64127|.	-0.6480|.	10|.	0.39692|.	T|.	0.17|.	-11.1195|-11.1195	18.1223|18.1223	0.89576|0.89576	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	224;224;224|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	V|X	224;224;224;122|126	ENSP00000355500:A224V;ENSP00000355502:A224V;ENSP00000355501:A224V|.	ENSP00000355500:A224V|.	A|Q	-|-	2|1	0|0	CEP170|CEP170	241421380|241421380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.942000|4.942000	0.63547|0.63547	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	GCA|CAG			0.383	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096178.2		NM_014812		A	243354757	G	A	243354757	3	1	101	1	0	0	0	0	1	0	0	0	3252	1319	46	2	4165	2	CEP170	1	243354757	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	84919133	243354757	5895864	6	7612											
CPS1	1373	broad.mit.edu	37	chr2	211507237	211507237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatttgattggtgtgctGtctctagtatccgcacactg	7	15	11	8	1	1	1	0	1	1	0	3	2	2	2	1	2	1	3	1	2	3	4			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr2:211507237G>T	ENST00000233072.5	+	25	3185	c.2989G>T	c.(2989-2991)Gtc>Ttc	p.V997F	CPS1_ENST00000430249.2_Missense_Mutation_p.V1003F|CPS1_ENST00000451903.2_Missense_Mutation_p.V546F|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	997					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)	TTGGTGTGCTGTCTCTAGTAT	0.453																																					p.V1003F													.	CPS1	485		0			c.G3007T												158	142	147					2																	211507237		2203	4300	6503	SO:0001583	missense	1373	exon26			TGTGCTGTCTCTA	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	ENST00000233072.5:c.2989G>T	2.37:g.211507237G>T	ENSP00000233072:p.Val997Phe		160	0	0		163	0.03	5	NM_001122633	3	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276682	0.95459	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98105	-4.72;-4.72;-4.72	6.16	6.16	0.99307	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	H	0.99225	4.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98117	1.0423	10	0.72032	D	0.01	-11.3824	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1007;997	Q59HF8;P31327	.;CPSM_HUMAN	F	1003;1005;997;546	ENSP00000402608:V1003F;ENSP00000233072:V997F;ENSP00000406136:V546F	ENSP00000233072:V997F	V	+	1	0	CPS1	211215482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.110000	0.94302	2.937000	0.99478	0.650000	0.86243	GTC			0.453	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256569.5				T	211507237	G	T	211507237	3	4	101	1	0	0	0	0	1	0	0	0	3825	1377	48	3	3109	3	CPS1	2	211507237	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10		211507237	31692136	7	7613											
SNED1	25992	mdanderson.org	37	chr2	241979822	241979822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcaagggacttcgctGtgagacaggtaactggccaa	10	8	12	11	1	1	1	1	1	0	1	2	3	1	2	2	3	1	2	2	3	3	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr2:241979822G>T	ENST00000310397.8	+	8	1265	c.1265G>T	c.(1264-1266)tGt>tTt	p.C422F	SNED1_ENST00000342631.6_Missense_Mutation_p.C422F|SNED1_ENST00000401884.1_Missense_Mutation_p.C422F|SNED1_ENST00000405547.3_Missense_Mutation_p.C422F|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	422	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GGACTTCGCTGTGAGACAGGT	0.582																																					p.C422F													.	.			0			c.G1265T												48	52	51					2																	241979822		2083	4199	6282	SO:0001583	missense	25992	exon8			TTCGCTGTGAGAC	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1265G>T	2.37:g.241979822G>T	ENSP00000308893:p.Cys422Phe		47	0	0		47	0.06	3	NM_001080437	0		0	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.70|11.70	1.717025|1.717025	0.30413|0.30413	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631;ENST00000420591|ENST00000431690	D;D;D;D;T|.	0.96265|.	-3.96;-3.96;-3.96;-3.96;-1.43|.	4.67|4.67	3.79|3.79	0.43588|0.43588	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.64402|.	D|.	0.000018|.	D|D	0.91023|0.91023	0.7176|0.7176	H|H	0.99877|0.99877	4.88|4.88	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.93213|0.93213	0.6602|0.6602	10|5	0.87932|.	D|.	0|.	.|.	12.3049|12.3049	0.54895|0.54895	0.0839:0.0:0.9161:0.0|0.0839:0.0:0.9161:0.0	.|.	422|.	Q8TER0|.	SNED1_HUMAN|.	F|L	422;422;422;422;60|80	ENSP00000384871:C422F;ENSP00000386007:C422F;ENSP00000308893:C422F;ENSP00000342992:C422F;ENSP00000394324:C60F|.	ENSP00000308893:C422F|.	C|V	+|+	2|1	0|0	SNED1|SNED1	241628495|241628495	1.000000|1.000000	0.71417|0.71417	0.112000|0.112000	0.21494|0.21494	0.005000|0.005000	0.04900|0.04900	8.615000|8.615000	0.90920|0.90920	0.943000|0.943000	0.37553|0.37553	-0.218000|-0.218000	0.12543|0.12543	TGT|GTG			0.582	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323935.2		XM_059482		T	241979822	G	T	241979822	3	4	101	1	0	0	0	0	1	0	0	0	14868	1377	48	3	1295	3	SNED1	2	241979822	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	30472585	241979822	1219551	8	7614											
IGSF11	152404	broad.mit.edu	37	chr3	118623632	118623632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccagctattagtccaatGttcctgggctgggctgcaaa	8	11	11	11	0	0	0	0	0	0	0	3	0	3	0	3	2	2	6	3	2	4	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr3:118623632G>T	ENST00000393775.2	-	6	1022	c.717C>A	c.(715-717)aaC>aaA	p.N239K	IGSF11_ENST00000354673.2_Missense_Mutation_p.N238K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N215K|IGSF11_ENST00000441144.2_Missense_Mutation_p.N214K|IGSF11_ENST00000425327.2_Missense_Mutation_p.N238K|IGSF11_ENST00000491903.1_Intron	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	239					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTAGTCCAATGTTCCTGGGCT	0.353																																					p.N239K													.	IGSF11	122		0			c.C717A												95	108	103					3																	118623632		2200	4300	6500	SO:0001583	missense	152404	exon6			TCCAATGTTCCTG	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.717C>A	3.37:g.118623632G>T	ENSP00000377370:p.Asn239Lys		389	0	0		341	0.01	4	NM_001015887	0		0	C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945627	0.34377	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144	T;T;D;T;D	0.84873	-0.99;-1.2;-1.91;-0.99;-1.8	5.52	3.71	0.42584	.	0.154637	0.64402	D	0.000001	T	0.66858	0.2832	N	0.08118	0	0.22500	N	0.999048	B;B;B;B	0.20164	0.01;0.034;0.042;0.02	B;B;B;B	0.21917	0.022;0.022;0.037;0.016	T	0.51309	-0.8722	10	0.11485	T	0.65	.	8.921	0.35612	0.2864:0.0:0.7136:0.0	.	214;238;215;239	Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;IGS11_HUMAN	K	238;239;215;238;214	ENSP00000406092:N238K;ENSP00000377370:N239K;ENSP00000420486:N215K;ENSP00000346700:N238K;ENSP00000401240:N214K	ENSP00000346700:N238K	N	-	3	2	IGSF11	120106322	0.954000	0.32549	0.982000	0.44146	0.993000	0.82548	0.333000	0.19768	1.579000	0.49836	0.655000	0.94253	AAC			0.353	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355075.2				T	118623632	G	T	118623632	3	4	101	1	0	0	0	0	1	0	0	0	7613	1368	48	3	586	3	IGSF11	3	118623632	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10		118623632	79398798	9	7615											
MFSD7	84179	mdanderson.org	37	chr4	676590	676590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccagtcaagtggatccTccccctgctggcaggtggac	6	9	12	14	0	1	0	1	0	0	0	4	2	4	2	4	4	1	2	4	4	1	0			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr4:676590T>C	ENST00000404286.2	-	9	1259	c.1244A>G	c.(1243-1245)gAg>gGg	p.E415G	MFSD7_ENST00000515118.1_Missense_Mutation_p.E318G|MFSD7_ENST00000347950.5_Missense_Mutation_p.E296G|MFSD7_ENST00000503156.1_Missense_Mutation_p.E350G|MFSD7_ENST00000322224.4_Missense_Mutation_p.E414G	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	415					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						AAGTGGATCCTCCCCCTGCTG	0.617																																					p.E414G													.	.			0			c.A1241G												57	47	51					4																	676590		2200	4296	6496	SO:0001583	missense	84179	exon9			GGATCCTCCCCCT	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.1244A>G	4.37:g.676590T>C	ENSP00000384616:p.Glu415Gly		47	0	0		39	0.08	3	NM_032219	12	0	0	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37		.	.	.	.	.	.	.	.	.	.	T	9.179	1.022985	0.19433	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.22	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);	0.320149	0.25735	N	0.028648	T	0.23289	0.0563	L	0.44542	1.39	0.22827	N	0.99868	B;B;B;B;B	0.31968	0.349;0.071;0.068;0.002;0.015	B;B;B;B;B	0.27380	0.079;0.014;0.03;0.005;0.005	T	0.13202	-1.0518	10	0.34782	T	0.22	-21.1029	9.9195	0.41455	0.0:0.0:0.0:1.0	.	350;318;296;415;414	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	G	296;414;415;318;350	ENSP00000307545:E296G;ENSP00000320234:E414G;ENSP00000384616:E415G;ENSP00000423204:E318G;ENSP00000425753:E350G	ENSP00000320234:E414G	E	-	2	0	MFSD7	666590	0.043000	0.20138	0.416000	0.26546	0.074000	0.17049	1.500000	0.35682	1.898000	0.54952	0.456000	0.33151	GAG			0.617	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000358585.1		NM_032219		C	676590	T	C	676590	3	2	101	1	0	0	0	0	1	0	0	0	9553	1551	54	4	446	4	MFSD7	4	676590	Missense_Mutation	SNP	T	TCGA-VF-A8AE-01A-11D-A435-10		676590	190477686	10	7616											
RBM46	166863	broad.mit.edu	37	chr4	155720331	155720331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgctaacaaagaagagagCcacccaaaaactctaggcaa	18	6	7	10	0	1	2	0	0	1	2	1	3	1	2	2	1	4	2	2	1	7	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr4:155720331C>T	ENST00000281722.3	+	4	1252	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	RBM46_ENST00000514866.1_Silent_p.S339S|RBM46_ENST00000510397.1_Silent_p.S339S	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	339							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AAGAAGAGAGCCACCCAAAAA	0.418																																					p.S339S													.	RBM46	76		0			c.C1017T												70	75	73					4																	155720331		2203	4300	6503	SO:0001819	synonymous_variant	166863	exon4			AGAGAGCCACCCA	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1017C>T	4.37:g.155720331C>T			291	0.0034364261	1		254	0.02	5	NM_144979	3	0	0	B3KWU8|B4DZ27	Silent	SNP	ENST00000281722.3	37	CCDS3790.1																																																																																					0.418	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365259.1		NM_144979		T	155720331	C	T	155720331	2	4	101	1	0	0	0	0	0	0	0	1	13163	738	26	2		2	RBM46	4	155720331	Silent	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	155043741	155720331	35433945	11	7617											
BAT2	7916	mdanderson.org	37	chr6	31595777	31595777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggctcaaagcagagcctgCtgccccacctgctgcccctt	6	7	10	18	1	1	1	1	0	0	1	1	1	1	1	6	1	6	4	6	1	1	1	rs375038051|rs149965706	byFrequency	TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr6:31595777C>T	ENST00000376033.2	+	12	1760	c.1526C>T	c.(1525-1527)gCt>gTt	p.A509V	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A509V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	509	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						GCAGAGCCTGCTGCCCCACCT	0.617																																					p.A509V													.	.			0			c.C1526T												114	108	110					6																	31595777		1511	2709	4220	SO:0001583	missense	7916	exon12			AGCCTGCTGCCCC	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.1526C>T	6.37:g.31595777C>T	ENSP00000365201:p.Ala509Val		52	0	0		39	0.08	3	NM_004638	14	0	0	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679282	0.29783	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.03745	3.82;3.82	4.6	3.73	0.42828	.	0.129296	0.35646	N	0.003080	T	0.01029	0.0034	N	0.14661	0.345	0.31410	N	0.675618	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.87932	D	0	-0.8032	10.5385	0.45018	0.0:0.9048:0.0:0.0952	.	509	P48634	PRC2A_HUMAN	V	509;498;509;509	ENSP00000365175:A509V;ENSP00000365201:A509V	ENSP00000365175:A509V	A	+	2	0	PRRC2A	31703756	0.936000	0.31750	0.989000	0.46669	0.911000	0.54048	1.632000	0.37102	1.305000	0.44909	0.549000	0.68633	GCT			0.617	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259319.1		NM_080686		T	31595777	C	T	31595777	3	4	101	1	0	0	0	0	1	0	0	0	1319	797	28	2	1568	2	BAT2	6	31595777	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10		31595777	139519290	12	7618											
BEND3	57673	mdanderson.org	37	chr6	107390550	107390550	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagagcagctgcacgtagtgGcggatgagcttgatgcggga	9	8	17	7	3	0	3	0	2	0	1	0	5	0	5	0	3	5	5	0	3	2	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr6:107390550G>T	ENST00000369042.1	-	4	2035	c.1845C>A	c.(1843-1845)cgC>cgA	p.R615R	BEND3_ENST00000429433.2_Silent_p.R615R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	615	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCACGTAGTGGCGGATGAGCT	0.647																																					p.R615R													.	.			0			c.C1845A												21	23	22					6																	107390550		2202	4298	6500	SO:0001819	synonymous_variant	57673	exon5			GTAGTGGCGGATG	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1845C>A	6.37:g.107390550G>T			54	0	0		42	0.07	3	NM_001080450	4	0	0	A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	CCDS34507.1																																																																																					0.647	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041686.1		NM_020913		T	107390550	G	T	107390550	2	4	101	1	0	0	0	0	0	0	0	1	1399	1190	42	2		2	BEND3	6	107390550	Silent	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	75794773	107390550	63724517	13	7619											
GPC2	221914	mdanderson.org	37	chr7	99769823	99769823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggccctggagcttatcagCcaggatcaggagaccatctt	9	8	13	11	0	3	1	2	0	1	1	3	4	3	3	3	5	2	1	3	5	1	2			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr7:99769823C>T	ENST00000292377.2	-	6	1077	c.910G>A	c.(910-912)Gct>Act	p.A304T	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	304					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)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCTTATCAGCCAGGATCAGG	0.517																																					p.A304T													.	.			0			c.G910A												53	49	50					7																	99769823		2203	4300	6503	SO:0001583	missense	221914	exon6			TATCAGCCAGGAT	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.910G>A	7.37:g.99769823C>T	ENSP00000292377:p.Ala304Thr		53	0	0		45	0.07	3	NM_152742	26	0	0	A4D2A7	Missense_Mutation	SNP	ENST00000292377.2	37	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715163	0.68844	.	.	ENSG00000213420	ENST00000292377	T	0.57436	0.4	5.1	4.16	0.48862	.	0.363033	0.28921	N	0.013719	T	0.50240	0.1604	L	0.52011	1.625	0.42256	D	0.991998	D	0.53619	0.961	P	0.48270	0.572	T	0.42189	-0.9466	10	0.20519	T	0.43	-13.4473	12.023	0.53354	0.1736:0.8264:0.0:0.0	.	304	Q8N158	GPC2_HUMAN	T	304	ENSP00000292377:A304T	ENSP00000292377:A304T	A	-	1	0	GPC2	99607759	1.000000	0.71417	0.879000	0.34478	0.787000	0.44495	3.598000	0.54038	2.357000	0.79964	0.484000	0.47621	GCT			0.517	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337556.1		NM_152742		T	99769823	C	T	99769823	3	4	101	1	0	0	0	0	1	0	0	0	6612	739	26	2	849	2	GPC2	7	99769823	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10		99769823	59368840	14	7620											
GIGYF1	64599	mdanderson.org	37	chr7	100279560	100279560	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccccggggccgagtttGgtgctgtggttggcctggaa	3	10	16	12	2	0	0	0	0	0	0	1	2	1	1	5	6	1	3	5	6	1	2			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr7:100279560G>T	ENST00000275732.5	-	23	4191	c.2982C>A	c.(2980-2982)acC>acA	p.T994T	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	994					insulin-like growth factor receptor signaling pathway (GO:0048009)					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)					GGCCGAGTTTGGTGCTGTGGT	0.677																																					p.T994T													.	.			0			c.C2982A												31	30	30					7																	100279560		2203	4300	6503	SO:0001819	synonymous_variant	64599	exon23			GAGTTTGGTGCTG	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.2982C>A	7.37:g.100279560G>T			33	0	0		38	0.08	3	NM_022574	120	0	0	Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	CCDS34708.1																																																																																					0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347205.2		NM_022574		T	100279560	G	T	100279560	2	4	101	1	0	0	0	0	0	0	0	1	6391	1335	47	3		3	GIGYF1	7	100279560	Silent	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	509737	100279560	58859103	15	7621											
KCND2	3751	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr7	120385930	120385930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtccttcactgtcttcaCaacaaggagtcaccagcacc	12	8	6	15	0	4	0	3	0	1	0	5	1	5	1	3	1	2	1	3	1	2	2			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr7:120385930C>A	ENST00000331113.4	+	5	2529	c.1564C>A	c.(1564-1566)Caa>Aaa	p.Q522K	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	522					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)	ACTGTCTTCACAACAAGGAGT	0.438																																					p.Q522K													.	KCND2	194		0			c.C1564A												144	121	129					7																	120385930		2203	4300	6503	SO:0001583	missense	3751	exon5			TCTTCACAACAAG	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.1564C>A	7.37:g.120385930C>A	ENSP00000333496:p.Gln522Lys		240	0.0041666667	1		235	0.09	22	NM_012281	0		0	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.57|12.57	1.976715|1.976715	0.34848|0.34848	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000425288|ENST00000331113	.|D	.|0.82711	.|-1.64	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Potassium channel, voltage dependent, Kv4, C-terminal (1);	.|0.466098	.|0.23435	.|N	.|0.048204	D|D	0.82527|0.82527	0.5056|0.5056	L|L	0.49126|0.49126	1.545|1.545	0.47214|0.47214	D|D	0.99935|0.99935	.|B	.|0.29341	.|0.242	.|B	.|0.36766	.|0.232	T|T	0.78137|0.78137	-0.2321|-0.2321	5|9	.|.	.|.	.|.	.|.	19.2489|19.2489	0.93914|0.93914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|522	.|Q9NZV8	.|KCND2_HUMAN	Q|K	107|522	.|ENSP00000333496:Q522K	.|.	H|Q	+|+	3|1	2|0	KCND2|KCND2	120173166|120173166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.273000|3.273000	0.51623|0.51623	2.549000|2.549000	0.85964|0.85964	0.313000|0.313000	0.20887|0.20887	CAC|CAA			0.438	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346996.1		NM_012281		A	120385930	C	A	120385930	3	1	101	1	0	0	0	0	1	0	0	0	8034	479	17	3	1582	3	KCND2	7	120385930	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	20106370	120385930	38752733	16	7622											
SGK223	157285	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	8234017	8234017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcctctatccggcaCtgacgactccaggtgcctgc	5	12	8	16	2	3	1	0	1	3	0	6	2	6	1	4	2	2	1	4	2	1	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr8:8234017C>T	ENST00000520004.1	-	3	2166	c.1902G>A	c.(1900-1902)caG>caA	p.Q634Q	SGK223_ENST00000330777.4_Silent_p.Q634Q			Q86YV5	SG223_HUMAN		636							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTATCCGGCACTGACGACTCC	0.602																																					p.Q634Q	GBM(34;731 755 10259 33573 33867)												.	.			0			c.G1902A												63	71	69					8																	8234017		1933	4133	6066	SO:0001819	synonymous_variant	0	exon2			CCGGCACTGACGA																												ENST00000520004.1:c.1902G>A	8.37:g.8234017C>T			135	0	0		151	0.07	10	NM_001080826	1	0	0	Q8N3N5	Silent	SNP	ENST00000520004.1	37	CCDS43706.1																																																																																					0.602	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374864.1				T	8234017	C	T	8234017	2	4	101	1	0	0	0	0	0	0	0	1	14233	564	20	3		3	SGK223	8	8234017	Silent	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10		8234017	138130005	17	7623											
RP1L1	94137	bcgsc.ca	37	chr8	10465990	10465990	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctggggcctctacaTcttctgactctggctgggcc	3	12	11	15	0	5	1	0	1	5	0	5	1	5	1	3	4	2	1	3	4	1	2	rs200622636	byFrequency	TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr8:10465990T>C	ENST00000382483.3	-	4	5841	c.5618A>G	c.(5617-5619)gAt>gGt	p.D1873G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1953					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCTACATCTTCTGACTC	0.617													T|||	208	0.0415335	0.0068	0.0562	5008	,	,		15764	0.0188		0.0845	False		,,,				2504	0.0573				p.D1873G													.	RP1L1	453		0			c.A5618G												162	175	171					8																	10465990		1917	4128	6045	SO:0001583	missense	94137	exon4			TCTACATCTTCTG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5618A>G	8.37:g.10465990T>C	ENSP00000371923:p.Asp1873Gly		79	0	0		87	0.16	14	NM_178857	0		0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	1.367	-0.587110	0.03827	.	.	ENSG00000183638	ENST00000382483	T	0.07567	3.18	1.24	-2.47	0.06442	.	.	.	.	.	T	0.02380	0.0073	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45833	-0.9234	9	0.21540	T	0.41	.	3.4646	0.07545	0.0:0.5294:0.2597:0.211	.	1873	A6NKC6	.	G	1873	ENSP00000371923:D1873G	ENSP00000371923:D1873G	D	-	2	0	RP1L1	10503400	0.001000	0.12720	0.015000	0.15790	0.046000	0.14306	0.311000	0.19380	-0.308000	0.08792	-0.769000	0.03391	GAT			0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375673.1				C	10465990	T	C	10465990	3	2	101	1	0	0	0	0	1	0	0	0	13556	1435	50	4	1588	4	RP1L1	8	10465990	Missense_Mutation	SNP	T	TCGA-VF-A8AE-01A-11D-A435-10	2231973	10465990	135898032	18	7624											
PDE7A	5150	broad.mit.edu	37	chr8	66695027	66695027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgcttacctagcatacGaatgtataatgcagtctgat	14	13	7	7	1	1	1	0	1	1	0	1	2	1	1	1	0	5	4	1	0	7	6			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr8:66695027G>T	ENST00000401827.3	-	2	633	c.190C>A	c.(190-192)Cgt>Agt	p.R64S	PDE7A_ENST00000379419.4_Missense_Mutation_p.R38S|PDE7A_ENST00000396642.3_Missense_Mutation_p.R64S	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	64					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CCTAGCATACGAATGTATAAT	0.284																																					p.R64S													.	PDE7A	78		0			c.C190A												44	44	44					8																	66695027		2203	4298	6501	SO:0001583	missense	5150	exon2			GCATACGAATGTA	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.190C>A	8.37:g.66695027G>T	ENSP00000385632:p.Arg64Ser		324	0.0030864198	1		377	0.02	6	NM_001242318	2	0	0	A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687689	0.68157	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642;ENST00000523253	T;T;T;T	0.76968	-1.06;-0.5;-1.06;0.86	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	L	0.59436	1.845	0.52501	D	0.999957	P;P;P	0.40230	0.586;0.708;0.632	B;B;B	0.38655	0.197;0.184;0.278	T	0.79897	-0.1609	10	0.66056	D	0.02	.	18.256	0.90020	0.0:0.0:1.0:0.0	.	64;64;38	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	S	64;38;64;38	ENSP00000385632:R64S;ENSP00000368730:R38S;ENSP00000379881:R64S;ENSP00000430262:R38S	ENSP00000368730:R38S	R	-	1	0	PDE7A	66857581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.033000	0.88852	2.610000	0.88304	0.555000	0.69702	CGT			0.284	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378905.1				T	66695027	G	T	66695027	3	4	101	1	0	0	0	0	1	0	0	0	11668	1058	37	1	1338	1	PDE7A	8	66695027	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	56229037	66695027	79668995	19	7625											
CRH	1392	mdanderson.org	37	chr8	67089599	67089599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaagggctgagggtgctgCggcgcctgccgagctcccgg	4	6	17	14	4	0	1	0	1	0	0	2	2	2	1	4	4	4	3	4	4	1	0			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr8:67089599C>T	ENST00000276571.3	-	2	560	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	38					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)	GAGGGTGCTGCGGCGCCTGCC	0.731											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P38P													.	.			0			c.G114A												2	3	3					8																	67089599		1588	3461	5049	SO:0001819	synonymous_variant	1392	exon2			GTGCTGCGGCGCC		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.114G>A	8.37:g.67089599C>T			12	0	0	1096	15	0.13	2	NM_000756	0		0	B3KQS4	Silent	SNP	ENST00000276571.3	37	CCDS6188.1																																																																																					0.731	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378926.1		NM_000756		T	67089599	C	T	67089599	2	4	101	1	0	0	0	0	0	0	0	1	3871	755	27	1		1	CRH	8	67089599	Silent	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	394572	67089599	79274423	20	7626											
FAM122A	116224	mdanderson.org	37	chr9	71395191	71395191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcaggaggtctaacagCgcccccctgatccacggcct	7	6	11	17	2	2	1	1	1	1	0	3	2	3	2	6	4	2	0	6	4	1	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr9:71395191C>A	ENST00000394264.3	+	1	228	c.111C>A	c.(109-111)agC>agA	p.S37R	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	37										endometrium(1)|lung(2)	3						GGTCTAACAGCGCCCCCCTGA	0.726																																					p.S37R													.	.			0			c.C111A												8	11	10					9																	71395191		2109	4171	6280	SO:0001583	missense	116224	exon1			TAACAGCGCCCCC	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.111C>A	9.37:g.71395191C>A	ENSP00000377807:p.Ser37Arg		63	0	0		48	0.06	3	NM_138333	9	0	0		Missense_Mutation	SNP	ENST00000394264.3	37	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082729	0.76528	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	T	0.57752	0.38	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73760	0.3628	M	0.84326	2.69	0.39392	D	0.966447	D	0.76494	0.999	D	0.79784	0.993	T	0.78534	-0.2167	10	0.66056	D	0.02	0.0485	14.5215	0.67853	0.0:1.0:0.0:0.0	.	37	Q96E09	F122A_HUMAN	R	37	ENSP00000377807:S37R	ENSP00000366492:S37R	S	+	3	2	FAM122A	70585011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.466000	0.35310	2.584000	0.87258	0.563000	0.77884	AGC			0.726	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052556.1		NM_138333		A	71395191	C	A	71395191	3	1	101	1	0	0	0	0	1	0	0	0	5429	767	27	1	113	1	FAM122A	9	71395191	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10		71395191	69818240	21	7627											
NTNG2	84628	broad.mit.edu	37	chr9	135073687	135073687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtccgcccgccgggcccGcgacatgtcatcctccagcg	5	7	11	18	6	1	0	1	0	0	0	4	1	4	0	6	1	1	0	6	1	1	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr9:135073687G>A	ENST00000393229.3	+	3	1324	c.548G>A	c.(547-549)cGc>cAc	p.R183H	NTNG2_ENST00000372179.3_Missense_Mutation_p.R183H|NTNG2_ENST00000393228.4_Missense_Mutation_p.R183H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R183H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	183	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)		CGCCGGGCCCGCGACATGTCA	0.672																																					p.R183H													NTNG2,NS,carcinoma,-1,1	NTNG2	66	1	0			c.G548A												28	24	25					9																	135073687		2196	4287	6483	SO:0001583	missense	84628	exon3			GGGCCCGCGACAT	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.548G>A	9.37:g.135073687G>A	ENSP00000376921:p.Arg183His		58	0	0		64	0.05	3	NM_032536	1	0	0	Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243855	0.79912	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	L	0.31065	0.9	0.49130	D	0.999756	D	0.69078	0.997	P	0.50934	0.654	T	0.66392	-0.5935	10	0.15066	T	0.55	.	17.7699	0.88489	0.0:0.0:1.0:0.0	.	183	Q96CW9	NTNG2_HUMAN	H	183	ENSP00000376921:R183H;ENSP00000376920:R183H;ENSP00000353888:R183H;ENSP00000361252:R183H	ENSP00000353888:R183H	R	+	2	0	NTNG2	134063508	1.000000	0.71417	0.986000	0.45419	0.851000	0.48451	3.967000	0.56802	2.417000	0.82017	0.561000	0.74099	CGC			0.672	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054779.1		NM_032536		A	135073687	G	A	135073687	3	1	101	1	0	0	0	0	1	0	0	0	10722	1087	38	1	554	1	NTNG2	9	135073687	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	63678496	135073687	6139744	22	7628											
NOTCH1	4851	mdanderson.org	37	chr9	139412617	139412617	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcatccacgtcctggctGcaggccgggcccgtgtaccc	5	7	11	18	3	1	0	1	0	0	0	3	0	3	0	5	3	2	3	5	3	1	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr9:139412617G>T	ENST00000277541.6	-	7	1302	c.1227C>A	c.(1225-1227)tgC>tgA	p.C409*	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	409	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCCTGGCTGCAGGCCGGGC	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.C409X				Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	.			0			c.C1227A												42	47	46					9																	139412617		2046	4191	6237	SO:0001587	stop_gained	4851	exon7			CTGGCTGCAGGCC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1227C>A	9.37:g.139412617G>T	ENSP00000277541:p.Cys409*		41	0	0		39	0.08	3	NM_017617	0		0	Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	38	7.189338	0.98125	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.82	3.92	0.45320	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2138	0.54394	0.0838:0.0:0.9162:0.0	.	.	.	.	X	409	.	ENSP00000277541:C409X	C	-	3	2	NOTCH1	138532438	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.060000	0.41394	1.018000	0.39521	0.514000	0.50259	TGC			0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055087.1		NM_017617		T	139412617	G	T	139412617	4	4	101	1	0	0	0	0	0	1	0	0	10564	1311	46	2	6552	2	NOTCH1	9	139412617	Nonsense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	4338930	139412617	1800814	23	7629											
NPFFR1	64106	mdanderson.org	37	chr10	72015064	72015064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaaggccagccagtgCgcgaaggggaaggcgtagac	12	4	17	8	3	0	3	0	1	0	2	0	5	0	4	2	4	2	1	2	4	5	2			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr10:72015064C>T	ENST00000277942.6	-	4	941	c.942G>A	c.(940-942)gcG>gcA	p.A314A		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	314					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						CCAGCCAGTGCGCGAAGGGGA	0.672																																					p.A314A													.	.			0			c.G942A																																									SO:0001819	synonymous_variant	64106	exon4			CCAGTGCGCGAAG	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	17425	protein-coding gene	gene with protein product	"neuropeptide FF 1"	607448	"G protein-coupled receptor 147"	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.942G>A	10.37:g.72015064C>T			37	0	0		28	0.11	3	NM_022146	0		0	A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	ENST00000277942.6	37	CCDS53539.1																																																																																					0.672	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048504.2		NM_022146		T	72015064	C	T	72015064	2	4	101	1	0	0	0	0	0	0	0	1	10594	755	27	1		1	NPFFR1	10	72015064	Silent	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10		72015064	63519683	24	7630											
PDCD11	22984	broad.mit.edu	37	chr10	105174894	105174894	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtaccacatcggggatGaggtcaagtgccgggtgagc	11	6	16	8	2	1	3	1	2	0	1	2	4	1	4	2	4	3	1	2	4	3	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr10:105174894G>T	ENST00000369797.3	+	12	1598	c.1504G>T	c.(1504-1506)Gag>Tag	p.E502*		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	502	S1 motif 5. {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)		CATCGGGGATGAGGTCAAGTG	0.542																																					p.E502X													.	PDCD11	160		0			c.G1504T												73	68	69					10																	105174894		2203	4300	6503	SO:0001587	stop_gained	22984	exon12			GGGGATGAGGTCA	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.1504G>T	10.37:g.105174894G>T	ENSP00000358812:p.Glu502*		330	0	0		286	0.02	6	NM_014976	5	0	0	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Nonsense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669271	0.88348	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	.	.	.	5.35	5.35	0.76521	.	0.049934	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-34.0646	8.6349	0.33941	0.0759:0.0:0.7717:0.1525	.	.	.	.	X	502	.	ENSP00000358812:E502X	E	+	1	0	PDCD11	105164884	1.000000	0.71417	0.989000	0.46669	0.064000	0.16182	4.487000	0.60293	2.681000	0.91329	0.643000	0.83706	GAG			0.542	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050151.1				T	105174894	G	T	105174894	4	4	101	1	0	0	0	0	0	1	0	0	11634	1291	45	3	1546	3	PDCD11	10	105174894	Nonsense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	33159830	105174894	30359853	25	7631											
DUSP5	1847	hgsc.bcm.edu	37	chr10	112270021	112270021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcctccctcctgccaagGggaggcagcaggctcttcac	7	6	11	17	0	2	0	1	0	1	0	4	1	4	1	5	4	3	3	5	4	1	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr10:112270021G>T	ENST00000369583.3	+	4	1276	c.992G>T	c.(991-993)gGg>gTg	p.G331V	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	331	Tyrosine-protein phosphatase.				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)		TCCTGCCAAGGGGAGGCAGCA	0.617																																					p.G331V													.	.			0			c.G992T												39	39	39					10																	112270021		2203	4300	6503	SO:0001583	missense	1847	exon4			GCCAAGGGGAGGC	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.992G>T	10.37:g.112270021G>T	ENSP00000358596:p.Gly331Val		113	0	0		90	0.06	5	NM_004419	15	0	0	Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491555	0.26774	.	.	ENSG00000138166	ENST00000369583	T	0.28666	1.6	5.86	5.86	0.93980	.	0.325307	0.36338	N	0.002644	T	0.11495	0.0280	N	0.00841	-1.15	0.47374	D	0.999407	P	0.35077	0.483	B	0.30251	0.113	T	0.31503	-0.9941	10	0.41790	T	0.15	.	16.2737	0.82632	0.0:0.1323:0.8677:0.0	.	331	Q16690	DUS5_HUMAN	V	331	ENSP00000358596:G331V	ENSP00000358596:G331V	G	+	2	0	DUSP5	112260011	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.333000	0.59285	2.778000	0.95560	0.655000	0.94253	GGG			0.617	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050333.1		NM_004419		T	112270021	G	T	112270021	3	4	101	1	0	0	0	0	1	0	0	0	4833	1232	43	3	1006	3	DUSP5	10	112270021	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	7095127	112270021	23264726	26	7632											
NRAP	4892	hgsc.bcm.edu	37	chr10	115356933	115356933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatactgtctggttttttaCggtacttggtctataagata	9	18	9	5	1	2	2	0	1	2	1	2	2	2	2	0	3	3	2	0	3	6	9	rs373953176		TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr10:115356933C>T	ENST00000359988.3	-	37	4587	c.4343G>A	c.(4342-4344)cGt>cAt	p.R1448H	NRAP_ENST00000360478.3_Missense_Mutation_p.R1413H|NRAP_ENST00000369360.3_Missense_Mutation_p.R1421H|NRAP_ENST00000369358.4_Missense_Mutation_p.R1456H	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGTTTTTTACGGTACTTGGT	0.448													C|||	1	0.000199681	0	0	5008	,	,		21521	0		0	False		,,,				2504	0.001				p.R1448H													NRAP,uveal_tract,malignant_melanoma,-1,1	NRAP	-1	1	0			c.G4343A							C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	274	248	257		4238,4343	6	1	10		257	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	NRAP	NM_006175.3,NM_198060.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1413/1696,1448/1731	115356933	2,13004	2203	4300	6503	SO:0001583	missense	4892	exon37			TTTTTACGGTACT		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4343G>A	10.37:g.115356933C>T	ENSP00000353078:p.Arg1448His		99	0	0		85	0.05	4	NM_001261463	0		0		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221215	0.95139	0.0	2.33E-4	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.24151	2.17;2.24;1.95;1.87	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.84156	2.68	0.58432	D	0.999999	B;D;D;D	0.89917	0.414;1.0;1.0;1.0	B;D;D;D	0.76071	0.125;0.97;0.987;0.97	T	0.60596	-0.7232	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	606;1448;1413;1448	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	H	1456;1421;1448;1413;606	ENSP00000358365:R1456H;ENSP00000358367:R1421H;ENSP00000353078:R1448H;ENSP00000353666:R1413H	ENSP00000353078:R1448H	R	-	2	0	NRAP	115346923	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	5.631000	0.67812	2.840000	0.97914	0.655000	0.94253	CGT			0.448	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050425.2		NM_006175		T	115356933	C	T	115356933	3	4	101	1	0	0	0	0	1	0	0	0	10655	536	19	1	873	1	NRAP	10	115356933	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	3086912	115356933	20177814	27	7633											
PHF21A	51317	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	46001326	46001326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttacctgtgaagcagtcagGttgggagaggctgcagctga	9	10	15	7	0	1	3	1	2	0	1	1	4	1	3	1	3	4	5	1	3	2	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr11:46001326G>A	ENST00000418153.2	-	6	544	c.345C>T	c.(343-345)aaC>aaT	p.N115N	PHF21A_ENST00000257821.4_Silent_p.N115N|PHF21A_ENST00000323180.6_Silent_p.N115N			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	115					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						AAGCAGTCAGGTTGGGAGAGg	0.498																																					p.N115N													.	PHF21A	107		0			c.C345T												218	177	191					11																	46001326		2202	4299	6501	SO:0001819	synonymous_variant	51317	exon6			AGTCAGGTTGGGA	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.345C>T	11.37:g.46001326G>A			119	0.0168067227	2		96	0.18	17	NM_016621	7	0.43	3	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1																																																																																					0.498	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000392583.1		NM_016621		A	46001326	G	A	46001326	2	1	101	1	0	0	0	0	0	0	0	1	11850	1252	44	3		3	PHF21A	11	46001326	Silent	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10		46001326	89005190	28	7634											
DAK	26007	mdanderson.org	37	chr11	61113960	61113960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctccgggccatcttggaGgtcttgcagagctagggtgt	6	11	14	10	1	2	1	0	0	2	1	4	2	4	2	3	4	2	2	3	4	1	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr11:61113960G>T	ENST00000394900.3	+	18	1942	c.1713G>T	c.(1711-1713)gaG>gaT	p.E571D	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	571	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CCATCTTGGAGGTCTTGCAGA	0.617																																					p.E571D													.	.			0			c.G1713T												83	93	90					11																	61113960		2203	4299	6502	SO:0001583	missense	26007	exon18			CTTGGAGGTCTTG		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1713G>T	11.37:g.61113960G>T	ENSP00000378360:p.Glu571Asp		24	0	0		17	0.12	2	NM_015533	44	0	0	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291167	0.40494	.	.	ENSG00000149476	ENST00000394900	T	0.32023	1.47	5.67	4.76	0.60689	Dak phosphatase (2);	0.097975	0.64402	D	0.000001	T	0.14614	0.0353	N	0.05050	-0.12	0.41956	D	0.990681	B	0.25235	0.121	B	0.26416	0.069	T	0.11941	-1.0567	10	0.17369	T	0.5	.	10.1208	0.42618	0.1532:0.0:0.8468:0.0	.	571	Q3LXA3	DHAK_HUMAN	D	571	ENSP00000378360:E571D	ENSP00000378360:E571D	E	+	3	2	DAK	60870536	1.000000	0.71417	0.987000	0.45799	0.754000	0.42855	1.416000	0.34759	1.413000	0.46997	0.561000	0.74099	GAG			0.617	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394425.4		NM_015533		T	61113960	G	T	61113960	3	4	101	1	0	0	0	0	1	0	0	0	4230	991	35	3	1779	3	DAK	11	61113960	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	15112634	61113960	73892556	29	7635											
NXF1	10482	broad.mit.edu;mdanderson.org	37	chr11	62568854	62568854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccatacagcttctgcGattcaggacaacgtcaatgt	11	10	9	11	2	3	0	2	0	1	0	3	2	3	1	1	1	6	2	1	1	3	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr11:62568854G>T	ENST00000532297.1	-	9	1374	c.745C>A	c.(745-747)Cgc>Agc	p.R249S	NXF1_ENST00000294172.2_Missense_Mutation_p.R249S|NXF1_ENST00000531131.1_Missense_Mutation_p.R112S|NXF1_ENST00000439713.2_Missense_Mutation_p.R249S|NXF1_ENST00000531709.2_Missense_Mutation_p.R249S			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	249					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCTTCTGCGATTCAGGACA	0.507																																					p.R249S													NXF1,mucosal,malignant_melanoma,0,1	NXF1	67	1	0			c.C745A												84	72	76					11																	62568854		2201	4299	6500	SO:0001583	missense	10482	exon8			TTCTGCGATTCAG	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.745C>A	11.37:g.62568854G>T	ENSP00000436679:p.Arg249Ser		60	0	0		45	0.07	3	NM_006362	44	0	0	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730571	0.69074	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76800	0.4038	M	0.90252	3.1	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.982;0.992;0.982	D;P;P;P	0.79784	0.993;0.738;0.511;0.472	T	0.76231	-0.3035	10	0.19590	T	0.45	-13.1382	11.4713	0.50270	0.0:0.0:0.8203:0.1796	.	112;292;262;249	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	S	249;249;292;249	ENSP00000294172:R249S;ENSP00000436679:R249S;ENSP00000435742:R292S;ENSP00000408864:R249S	ENSP00000294172:R249S	R	-	1	0	NXF1	62325430	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.695000	0.54749	2.466000	0.83321	0.655000	0.94253	CGC			0.507	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395365.2		NM_006362		T	62568854	G	T	62568854	3	4	101	1	0	0	0	0	1	0	0	0	10799	1058	37	1	1225	1	NXF1	11	62568854	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	1454894	62568854	72437662	30	7636											
LRP5	4041	mdanderson.org	37	chr11	68115598	68115598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaagctgtactggacGgactcagagaccaaccgcat	13	5	12	11	2	1	2	1	0	0	2	1	5	1	4	2	3	3	4	2	3	4	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr11:68115598G>A	ENST00000294304.7	+	2	481	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	125	Beta-propeller 1.				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						TGTACTGGACGGACTCAGAGA	0.647																																					p.T125T													.	.			0			c.G375A												114	103	107					11																	68115598		2200	4294	6494	SO:0001819	synonymous_variant	4041	exon2			CTGGACGGACTCA	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.375G>A	11.37:g.68115598G>A			72	0	0		51	0.06	3	NM_002335	0		0	Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	CCDS8181.1																																																																																					0.647	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395088.1		NM_002335		A	68115598	G	A	68115598	2	1	101	1	0	0	0	0	0	0	0	1	8976	1103	39	1		1	LRP5	11	68115598	Silent	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	5546744	68115598	66890918	31	7637											
FUT4	2526	mdanderson.org	37	chr11	94278020	94278020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcttttccaccaccgcGacctcgtgaaggggcccccc	5	7	10	19	4	0	1	0	1	0	0	2	2	1	1	8	2	1	1	8	2	1	2			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr11:94278020G>T	ENST00000358752.2	+	1	1004	c.721G>T	c.(721-723)Gac>Tac	p.D241Y	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	241					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCACCACCGCGACCTCGTGAA	0.706																																					p.D241Y													.	.			0			c.G721T												8	9	8					11																	94278020		1867	3743	5610	SO:0001583	missense	2526	exon1			CACCGCGACCTCG		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.721G>T	11.37:g.94278020G>T	ENSP00000351602:p.Asp241Tyr		30	0	0		25	0.08	2	NM_002033	4	0	0	B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	g	18.16	3.562180	0.65538	.	.	ENSG00000196371	ENST00000358752	T	0.28069	1.63	4.4	2.46	0.29980	.	0.059107	0.64402	D	0.000004	T	0.54854	0.1884	M	0.86268	2.805	0.47308	D	0.999387	D	0.89917	1.0	D	0.87578	0.998	T	0.58875	-0.7559	10	0.87932	D	0	.	9.0459	0.36347	0.0837:0.1499:0.7664:0.0	.	241	P22083	FUT4_HUMAN	Y	241	ENSP00000351602:D241Y	ENSP00000351602:D241Y	D	+	1	0	FUT4	93917668	0.991000	0.36638	0.986000	0.45419	0.615000	0.37417	4.307000	0.59123	0.944000	0.37579	0.442000	0.29010	GAC			0.706	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396327.2		NM_002033		T	94278020	G	T	94278020	3	4	101	1	0	0	0	0	1	0	0	0	6119	1058	37	1	723	1	FUT4	11	94278020	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	26162422	94278020	40728496	32	7638											
TRAPPC4	51399	mdanderson.org	37	chr11	118889660	118889660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgtgttggttgctttcgGccagcgggacggcatccgag	4	10	17	10	5	0	0	0	0	0	0	2	2	1	1	2	4	2	4	2	4	0	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr11:118889660G>T	ENST00000533632.1	+	1	519	c.155G>T	c.(154-156)gGc>gTc	p.G52V	TRAPPC4_ENST00000434101.2_Missense_Mutation_p.G52V|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.G52V|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.G52V|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.G52V|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.G52V|RPS25_ENST00000527673.1_5'Flank	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	52					dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GTTGCTTTCGGCCAGCGGGAC	0.637																																					p.G52V													.	.			0			c.G155T												65	63	64					11																	118889660		2200	4295	6495	SO:0001583	missense	51399	exon1			CTTTCGGCCAGCG	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.155G>T	11.37:g.118889660G>T	ENSP00000436005:p.Gly52Val		54	0	0		44	0.07	3	NM_016146	154	0	0	A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	G	36	5.767352	0.96914	.	.	ENSG00000196655	ENST00000533632;ENST00000528230;ENST00000525303;ENST00000434101;ENST00000359005;ENST00000533058	D;D;D;T;T;T	0.85955	-2.05;-1.67;-1.65;0.63;0.2;0.16	5.86	5.86	0.93980	Longin-like (1);	0.000000	0.85682	D	0.000000	D	0.93318	0.7870	M	0.83774	2.66	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;0.998;1.0;1.0	D	0.93486	0.6831	10	0.87932	D	0	-14.3606	19.79	0.96453	0.0:0.0:1.0:0.0	.	52;52;52;52	B4DF86;B4DME1;Q9Y296;B4DF36	.;.;TPPC4_HUMAN;.	V	52	ENSP00000436005:G52V;ENSP00000436827:G52V;ENSP00000435339:G52V;ENSP00000405033:G52V;ENSP00000351896:G52V;ENSP00000432920:G52V	ENSP00000351896:G52V	G	+	2	0	TRAPPC4	118394870	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.426000	0.97469	2.784000	0.95788	0.655000	0.94253	GGC			0.637	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389332.1		NM_016146		T	118889660	G	T	118889660	3	4	101	1	0	0	0	0	1	0	0	0	16485	1203	42	2	157	2	TRAPPC4	11	118889660	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	24611640	118889660	16116856	33	7639											
ROBO3	64221	mdanderson.org	37	chr11	124749826	124749826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcccctggcagcccagCgggtgctccacccagatggt	5	6	13	17	2	0	1	0	0	0	1	1	1	1	1	6	3	4	2	6	3	0	0			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr11:124749826C>T	ENST00000397801.1	+	26	4132	c.3940C>T	c.(3940-3942)Cgg>Tgg	p.R1314W	ROBO3_ENST00000543966.1_Missense_Mutation_p.R77W|ROBO3_ENST00000538940.1_Missense_Mutation_p.R1292W|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1314					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGCAGCCCAGCGGGTGCTCCA	0.682																																					p.R1314W													ROBO3_ENST00000397801,mouth,carcinoma,-1,1	ROBO3_ENST00000397801	-1	1	0			c.C3940T												10	13	12					11																	124749826		1996	4151	6147	SO:0001583	missense	64221	exon26			GCCCAGCGGGTGC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3940C>T	11.37:g.124749826C>T	ENSP00000380903:p.Arg1314Trp		65	0	0		30	0.1	3	NM_022370	12	0	0		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	6.756	0.508387	0.12883	.	.	ENSG00000154134	ENST00000397801;ENST00000538940;ENST00000543966	T;T;T	0.66460	-0.21;-0.2;0.73	5.5	0.12	0.14691	.	0.942806	0.08692	N	0.907749	T	0.55257	0.1909	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46816	-0.9164	10	0.56958	D	0.05	.	4.5745	0.12226	0.3925:0.4088:0.1268:0.0719	.	1314	Q96MS0	ROBO3_HUMAN	W	1314;1292;77	ENSP00000380903:R1314W;ENSP00000441797:R1292W;ENSP00000438799:R77W	ENSP00000380903:R1314W	R	+	1	2	ROBO3	124255036	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.993000	0.03720	-0.233000	0.09797	-0.122000	0.15005	CGG			0.682	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387091.1		XM_370663		T	124749826	C	T	124749826	3	4	101	1	0	0	0	0	1	0	0	0	13538	759	27	1	4042	1	ROBO3	11	124749826	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	5860166	124749826	10256690	34	7640											
ETV6	2120	mdanderson.org	37	chr12	11905470	11905470	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgttccagtgcctcgagcGctcaggatggaggaagactc	9	8	13	11	2	1	1	1	0	0	1	4	5	2	4	2	3	2	2	2	3	1	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr12:11905470G>T	ENST00000396373.4	+	2	394	c.120G>T	c.(118-120)gcG>gcT	p.A40A	ETV6_ENST00000544715.1_3'UTR	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	40	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TGCCTCGAGCGCTCAGGATGG	0.577			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																p.A40A				Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	.	.			0			c.G120T												66	60	62					12																	11905470		2203	4300	6503	SO:0001819	synonymous_variant	2120	exon2			TCGAGCGCTCAGG	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.120G>T	12.37:g.11905470G>T			37	0	0		45	0.07	3	NM_001987	1	0	0	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	37	CCDS8643.1																																																																																					0.577	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400130.2		NM_001987		T	11905470	G	T	11905470	2	4	101	1	0	0	0	0	0	0	0	1	5290	1074	38	1		1	ETV6	12	11905470	Silent	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10		11905470	121946425	35	7641											
DENND5B	160518	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	31632964	31632964	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacttgccaatgagtccaTactgcaggaagatgaagcat	14	9	9	9	0	0	3	0	2	0	1	1	4	1	4	2	1	5	2	2	1	5	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr12:31632964T>A	ENST00000389082.5	-	3	727	c.463A>T	c.(463-465)Atg>Ttg	p.M155L	DENND5B_ENST00000306833.6_Missense_Mutation_p.M190L|DENND5B_ENST00000354285.4_Missense_Mutation_p.M177L|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000536562.1_Missense_Mutation_p.M190L	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	155					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						AATGAGTCCATACTGCAGGAA	0.428																																					p.M155L													DENND5B,NS,carcinoma,+2,1	DENND5B	2	1	0			c.A463T												130	125	127					12																	31632964		2062	4212	6274	SO:0001583	missense	160518	exon3			AGTCCATACTGCA	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.463A>T	12.37:g.31632964T>A	ENSP00000373734:p.Met155Leu		183	0	0		168	0.04	7	NM_144973	1	1	1	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474369	0.26423	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.06687	3.83;3.93;3.93;3.3;3.27	4.65	3.44	0.39384	.	0.296795	0.34002	N	0.004351	T	0.05456	0.0144	N	0.16478	0.41	0.48696	D	0.99969	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.002	T	0.38045	-0.9679	10	0.27785	T	0.31	-16.9074	11.5123	0.50500	0.0:0.0:0.1495:0.8505	.	190;77;177;155;190	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	L	155;190;190;177;107	ENSP00000373734:M155L;ENSP00000306482:M190L;ENSP00000444889:M190L;ENSP00000346238:M177L;ENSP00000442938:M107L	ENSP00000306482:M190L	M	-	1	0	DENND5B	31524231	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.750000	0.47500	1.955000	0.56771	0.533000	0.62120	ATG			0.428	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402040.1		NM_144973		A	31632964	T	A	31632964	3	1	101	1	0	0	0	0	1	0	0	0	4442	1406	49	5	3437	5	DENND5B	12	31632964	Missense_Mutation	SNP	T	TCGA-VF-A8AE-01A-11D-A435-10	19727494	31632964	102218931	36	7642											
RAPGEF3	10411	mdanderson.org	37	chr12	48141538	48141538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtcagtgtggagcatggagCcatacagggccacccactgg	9	6	15	11	0	1	0	1	0	0	0	1	2	1	2	3	5	3	1	3	5	1	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr12:48141538C>T	ENST00000449771.2	-	14	1518	c.1430G>A	c.(1429-1431)gGc>gAc	p.G477D	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.G477D|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.G477D|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.G435D|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.G435D|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.G435D|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.G435D			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	477	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GAGCATGGAGCCATACAGGGC	0.662																																					p.G477D													.	.			0			c.G1430A												38	39	39					12																	48141538		2203	4300	6503	SO:0001583	missense	10411	exon14			ATGGAGCCATACA	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1430G>A	12.37:g.48141538C>T	ENSP00000395708:p.Gly477Asp		31	0	0		30	0.1	3	NM_001098531	1	0	0	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360929	0.41801	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.99	3.15	0.36227	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.174971	0.48767	D	0.000176	T	0.29061	0.0722	L	0.54323	1.7	0.26197	N	0.979502	B	0.16396	0.017	B	0.25614	0.062	T	0.26950	-1.0088	10	0.59425	D	0.04	.	9.0975	0.36647	0.1466:0.7757:0.0:0.0778	.	477	O95398	RPGF3_HUMAN	D	435;477;124;435;435;435;477;489;435;477	ENSP00000384521:G435D;ENSP00000395708:G477D;ENSP00000448619:G435D;ENSP00000171000:G435D;ENSP00000373864:G477D;ENSP00000448480:G435D;ENSP00000378764:G477D	ENSP00000171000:G435D	G	-	2	0	RAPGEF3	46427805	1.000000	0.71417	0.542000	0.28115	0.924000	0.55760	4.233000	0.58651	0.805000	0.34159	-0.182000	0.12963	GGC			0.662	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257848.1		NM_006105		T	48141538	C	T	48141538	3	4	101	1	0	0	0	0	1	0	0	0	13068	739	26	2	1401	2	RAPGEF3	12	48141538	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	16508574	48141538	85710357	37	7643											
RARG	5916	ucsc.edu	37	chr12	53609563	53609563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatctcctctgagctggtgCtctgtgtctccaccgctggg	3	12	11	15	1	4	1	0	1	4	0	6	1	4	1	4	2	2	3	4	2	0	0			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr12:53609563C>T	ENST00000425354.2	-	4	687	c.200G>A	c.(199-201)aGc>aAc	p.S67N	RARG_ENST00000394426.1_Missense_Mutation_p.S67N|RARG_ENST00000338561.5_Missense_Mutation_p.S56N|RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_5'UTR|RARG_ENST00000543726.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	67	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGAGCTGGTGCTCTGTGTCTC	0.617																																					p.S67N													.	RARG	53		0			c.G200A												68	56	60					12																	53609563		2203	4300	6503	SO:0001583	missense	5916	exon4			CTGGTGCTCTGTG	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.200G>A	12.37:g.53609563C>T	ENSP00000388510:p.Ser67Asn		34	0	0		38	0.11	4	NM_000966	4	0	0	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	CCDS8850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.267755|4.267755	0.80469|0.80469	.|.	.|.	ENSG00000172819|ENSG00000172819	ENST00000550265|ENST00000425354;ENST00000394426;ENST00000338561	.|D;D;D	.|0.92099	.|-2.97;-2.97;-2.9	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.044661	.|0.85682	.|D	.|0.000000	D|D	0.92067|0.92067	0.7486|0.7486	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	P|B;P	0.37330|0.36753	0.59|0.376;0.568	B|B;B	0.35413|0.39339	0.202|0.104;0.297	D|D	0.92979|0.92979	0.6404|0.6404	8|10	0.21540|0.56958	T|D	0.41|0.05	.|.	16.0377|16.0377	0.80642|0.80642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	95|67;56	F8VR45|P13631;F1D8P1	.|RARG_HUMAN;.	T|N	95|67;67;56	.|ENSP00000388510:S67N;ENSP00000377947:S67N;ENSP00000343698:S56N	ENSP00000446565:A95T|ENSP00000343698:S56N	A|S	-|-	1|2	0|0	RARG|RARG	51895830|51895830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	4.673000|4.673000	0.61604|0.61604	2.385000|2.385000	0.81259|0.81259	0.467000|0.467000	0.42956|0.42956	GCA|AGC			0.617	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000109404.2		NM_000966		T	53609563	C	T	53609563	3	4	101	1	0	0	0	0	1	0	0	0	13077	797	28	2	1192	2	RARG	12	53609563	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	5468025	53609563	80242332	38	7644											
DLGAP5	9787	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	55655696	55655696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctggaacaagcccttGagatgtctcatctaattcaa	11	14	6	10	0	4	1	2	1	3	1	5	3	4	2	1	1	2	0	1	1	4	5			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr14:55655696G>T	ENST00000247191.2	-	2	418	c.202C>A	c.(202-204)Caa>Aaa	p.Q68K	DLGAP5_ENST00000395425.2_Missense_Mutation_p.Q68K	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	68					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						ACAAGCCCTTGAGATGTCTCA	0.343																																					p.Q68K													.	.			0			c.C202A												115	113	114					14																	55655696		2203	4299	6502	SO:0001583	missense	9787	exon2			GCCCTTGAGATGT	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.202C>A	14.37:g.55655696G>T	ENSP00000247191:p.Gln68Lys		228	0	0		232	0.05	12	NM_014750	11	0.27	3	A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508175	0.44660	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645;ENST00000554067	T;T;T;T	0.44083	2.31;2.31;2.31;0.93	5.71	3.69	0.42338	.	0.795201	0.11661	N	0.541805	T	0.47060	0.1425	M	0.70595	2.14	0.24585	N	0.993859	P;P	0.49961	0.93;0.846	P;P	0.44422	0.449;0.449	T	0.38585	-0.9654	10	0.25751	T	0.34	.	14.3911	0.66978	0.0:0.539:0.461:0.0	.	68;68	A8MTM6;Q15398	.;DLGP5_HUMAN	K	68	ENSP00000378815:Q68K;ENSP00000247191:Q68K;ENSP00000451747:Q68K;ENSP00000452168:Q68K	ENSP00000247191:Q68K	Q	-	1	0	DLGAP5	54725449	0.852000	0.29690	0.687000	0.30102	0.587000	0.36485	1.682000	0.37628	1.491000	0.48482	0.655000	0.94253	CAA			0.343	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276908.2		NM_014750		T	55655696	G	T	55655696	3	4	101	1	0	0	0	0	1	0	0	0	4568	1299	45	3	2505	3	DLGAP5	14	55655696	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10		55655696	51693844	39	7645											
PSMC1	5700	mdanderson.org	37	chr14	90726472	90726472	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcaaggacaagaaaaagaAatatgaacctcctgtaccaa	20	6	6	9	0	1	3	1	1	0	2	2	4	2	4	3	1	2	1	3	1	9	2			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr14:90726472A>G	ENST00000261303.8	+	3	174	c.71A>G	c.(70-72)aAa>aGa	p.K24R	PSMC1_ENST00000543772.2_Intron	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	24					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)|ATP catabolic process (GO:0006200)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AAGAAAAAGAAATATGAACCT	0.368																																					p.K24R													.	.			0			c.A71G												64	73	70					14																	90726472		2203	4300	6503	SO:0001583	missense	5700	exon3			AAAAGAAATATGA	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.71A>G	14.37:g.90726472A>G	ENSP00000261303:p.Lys24Arg		13	0	0		14	0.14	2	NM_002802	6	0	0	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347257	0.61183	.	.	ENSG00000100764	ENST00000261303	D	0.94966	-3.57	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.93575	0.7949	M	0.64170	1.965	0.80722	D	1	P	0.34587	0.458	B	0.39152	0.292	D	0.93095	0.6503	10	0.42905	T	0.14	-26.0009	14.9883	0.71365	1.0:0.0:0.0:0.0	.	24	P62191	PRS4_HUMAN	R	24	ENSP00000261303:K24R	ENSP00000261303:K24R	K	+	2	0	PSMC1	89796225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.025000	0.93694	2.194000	0.70268	0.533000	0.62120	AAA			0.368	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411253.1		NM_002802		G	90726472	A	G	90726472	3	3	101	1	0	0	0	0	1	0	0	0	12705	14	1	4	81	4	PSMC1	14	90726472	Missense_Mutation	SNP	A	TCGA-VF-A8AE-01A-11D-A435-10	35070776	90726472	16623068	40	7646											
KIAA1409	57578	broad.mit.edu	37	chr14	94079317	94079317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcaacacggtcaagcGacacctgtacgtcttactcg	9	9	9	14	4	3	0	2	0	1	0	4	1	3	0	2	2	4	1	2	2	4	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr14:94079317G>T	ENST00000393151.2	+	27	3929	c.3929G>T	c.(3928-3930)cGa>cTa	p.R1310L	UNC79_ENST00000256339.4_Missense_Mutation_p.R1133L|UNC79_ENST00000553484.1_Missense_Mutation_p.R1332L|UNC79_ENST00000555664.1_Missense_Mutation_p.R1310L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1310					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						ACGGTCAAGCGACACCTGTAC	0.483																																					p.R1133L													UNC79,NS,carcinoma,+1,2	UNC79	366	2	0			c.G3398T												140	116	124					14																	94079317		2203	4300	6503	SO:0001583	missense	57578	exon27			TCAAGCGACACCT	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.3929G>T	14.37:g.94079317G>T	ENSP00000376858:p.Arg1310Leu		182	0.0054945055	1		151	0.02	3	NM_020818	0		0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.361657	0.95877	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.23950	1.92;1.88;1.88;1.92	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	L	0.52011	1.625	0.53005	D	0.999963	D	0.69078	0.997	D	0.75484	0.986	T	0.43814	-0.9368	10	0.87932	D	0	-18.4984	19.5316	0.95231	0.0:0.0:1.0:0.0	.	1332	C9JQL1	.	L	1133;1310;1332;1310;1332	ENSP00000256339:R1133L;ENSP00000450868:R1310L;ENSP00000451360:R1332L;ENSP00000376858:R1310L	ENSP00000256339:R1133L	R	+	2	0	KIAA1409	93149070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.617000	0.88574	0.650000	0.86243	CGA			0.483	UNC79-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000412766.1		XM_028395		T	94079317	G	T	94079317	3	4	101	1	0	0	0	0	1	0	0	0	8245	1058	37	1	3492	1	KIAA1409	14	94079317	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	3352845	94079317	13270223	41	7647											
WDR76	79968	broad.mit.edu	37	chr15	44134649	44134649	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttagaaatgacttctGaaaatcaagaagacaacaat	18	9	7	7	0	2	5	1	2	1	3	2	5	2	5	1	1	1	0	1	1	8	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr15:44134649G>T	ENST00000263795.6	+	6	839	c.769G>T	c.(769-771)Gaa>Taa	p.E257*	WDR76_ENST00000381246.2_Nonsense_Mutation_p.E193*	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	257										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)		AATGACTTCTGAAAATCAAGA	0.398											OREG0003949	type=REGULATORY REGION|Gene=AK124169|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.E257X													.	WDR76	34		0			c.G769T												71	73	72					15																	44134649		2198	4298	6496	SO:0001587	stop_gained	79968	exon6			ACTTCTGAAAATC	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.769G>T	15.37:g.44134649G>T	ENSP00000263795:p.Glu257*		453	0.0022075055	1	921	465	0.02	7	NM_024908	4	0	0	A0MNP5|Q05CI4	Nonsense_Mutation	SNP	ENST00000263795.6	37	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673147	0.47781	.	.	ENSG00000092470	ENST00000263795;ENST00000381246;ENST00000452115	.	.	.	5.49	3.51	0.40186	.	0.362944	0.30575	N	0.009324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-16.2829	6.2272	0.20714	0.0935:0.0:0.7235:0.183	.	.	.	.	X	257;193;193	.	ENSP00000263795:E257X	E	+	1	0	WDR76	41921941	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	2.108000	0.41854	1.307000	0.44944	-0.253000	0.11424	GAA			0.398	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000133482.2		NM_024908		T	44134649	G	T	44134649	4	4	101	1	0	0	0	0	0	1	0	0	17350	1291	45	3	791	3	WDR76	15	44134649	Nonsense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10		44134649	58396743	42	7648											
USP3	9960	broad.mit.edu	37	chr15	63852125	63852125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggaatgggaaaacagcAggaaggcggacataccacac	17	4	12	8	1	0	0	0	0	0	0	0	4	0	4	1	5	3	1	1	5	6	2			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr15:63852125A>G	ENST00000380324.3	+	7	732	c.603A>G	c.(601-603)gcA>gcG	p.A201A	USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Silent_p.A157A|USP3_ENST00000558285.1_Silent_p.A184A|USP3_ENST00000268049.7_Silent_p.A179A|USP3_ENST00000536001.1_Intron|USP3_ENST00000559711.1_Silent_p.A112A	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	201	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		GGAAAACAGCAGGAAGGCGGA	0.388																																					p.A201A													.	USP3	37		0			c.A603G												98	91	93					15																	63852125		2203	4300	6503	SO:0001819	synonymous_variant	9960	exon7			AACAGCAGGAAGG	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.603A>G	15.37:g.63852125A>G			269	0	0		300	0.01	4	NM_006537	4	0	0	B4DVU5|F5H1A6|Q8WVD0	Silent	SNP	ENST00000380324.3	37	CCDS32265.1																																																																																					0.388	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417773.1				G	63852125	A	G	63852125	2	3	101	1	0	0	0	0	0	0	0	1	17084	175	7	4		4	USP3	15	63852125	Silent	SNP	A	TCGA-VF-A8AE-01A-11D-A435-10	19717476	63852125	38679267	43	7649											
IFT140	9742	broad.mit.edu	37	chr16	1574556	1574556	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggcccgtggtaccttGcacaggcggatggcattctt	5	9	13	14	3	1	0	0	0	1	0	1	1	1	1	4	5	2	3	4	5	1	4			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr16:1574556G>T	ENST00000426508.2	-	24	3501	c.3138C>A	c.(3136-3138)tgC>tgA	p.C1046*	IFT140_ENST00000361339.5_Nonsense_Mutation_p.C240*	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1046					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)				GTGGTACCTTGCACAGGCGGA	0.637																																					p.C1046X													.	IFT140	128		0			c.C3138A												28	34	32					16																	1574556		2199	4300	6499	SO:0001587	stop_gained	9742	exon24			TACCTTGCACAGG	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.3138C>A	16.37:g.1574556G>T	ENSP00000406012:p.Cys1046*		73	0	0		52	0.08	4	NM_014714	0		0	A2A2A8|D3DU75|O60332|Q9UG52	Nonsense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	39	7.795833	0.98495	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	.	.	.	5.27	1.72	0.24424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	12.3262	0.55011	0.2783:0.0:0.7217:0.0	.	.	.	.	X	1046;240;1046	.	ENSP00000354895:C240X	C	-	3	2	IFT140	1514557	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.186000	0.32078	0.626000	0.30322	-0.266000	0.10368	TGC			0.637	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250438.2		NM_014714		T	1574556	G	T	1574556	4	4	101	1	0	0	0	0	0	1	0	0	7571	1311	46	2	1282	2	IFT140	16	1574556	Nonsense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10		1574556	88780197	44	7650											
KATNB1	10300	mdanderson.org	37	chr16	57787863	57787863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcctctgcaggtcggaCgccaccccggagaagtgagc	7	8	12	14	3	2	2	0	1	2	1	4	4	3	3	4	3	2	1	4	3	1	1	rs143811277		TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr16:57787863C>T	ENST00000379661.3	+	13	1576	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GCAGGTCGGACGCCACCCCGG	0.677																																					p.T395M													KATNB1,rectum,carcinoma,0,1	KATNB1	0	1	0			c.C1184T							C	MET/THR	2,4394	4.2+/-10.8	0,2,2196	62	55	57		1184	4.8	1	16	dbSNP_134	57	0,8600		0,0,4300	yes	missense	KATNB1	NM_005886.2	81	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	395/656	57787863	2,12994	2198	4300	6498	SO:0001583	missense	10300	exon13			GTCGGACGCCACC	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1184C>T	16.37:g.57787863C>T	ENSP00000368982:p.Thr395Met		55	0	0		55	0.07	4	NM_005886	38	0	0		Missense_Mutation	SNP	ENST00000379661.3	37	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417642	0.83449	4.55E-4	0.0	ENSG00000140854	ENST00000379661	T	0.56275	0.47	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76102	-0.3082	10	0.87932	D	0	5.7195	16.4232	0.83773	0.0:1.0:0.0:0.0	.	395	Q9BVA0	KTNB1_HUMAN	M	395	ENSP00000368982:T395M	ENSP00000368982:T395M	T	+	2	0	KATNB1	56345364	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	5.634000	0.67833	2.216000	0.71823	0.313000	0.20887	ACG	0		0.677	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257343.3				T	57787863	C	T	57787863	3	4	101	1	0	0	0	0	1	0	0	0	8002	536	19	1	1230	1	KATNB1	16	57787863	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	56213307	57787863	32566890	45	7651											
MLYCD	23417	broad.mit.edu	37	chr16	83949014	83949014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggccccaacagcacctccTacctcggctccaagatcatc	9	6	7	19	2	1	1	1	0	0	1	5	1	3	1	6	2	3	2	6	2	3	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr16:83949014T>C	ENST00000262430.4	+	5	1421	c.1402T>C	c.(1402-1404)Tac>Cac	p.Y468H	RP11-505K9.4_ENST00000566309.1_Intron|RP11-505K9.4_ENST00000561562.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	468	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						CAGCACCTCCTACCTCGGCTC	0.577																																					p.Y468H													.	MLYCD	27		0			c.T1402C												30	33	32					16																	83949014		1979	4163	6142	SO:0001583	missense	23417	exon5			ACCTCCTACCTCG	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.1402T>C	16.37:g.83949014T>C	ENSP00000262430:p.Tyr468His		114	0	0		98	0.04	4	NM_012213	14	0	0	Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284662	0.80803	.	.	ENSG00000103150	ENST00000262430	D	0.97731	-4.51	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99560	1.0968	10	0.87932	D	0	-32.2263	13.9448	0.64077	0.0:0.0:0.0:1.0	.	468	O95822	DCMC_HUMAN	H	468	ENSP00000262430:Y468H	ENSP00000262430:Y468H	Y	+	1	0	MLYCD	82506515	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	7.514000	0.81750	1.962000	0.57031	0.459000	0.35465	TAC			0.577	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433009.1		NM_012213		C	83949014	T	C	83949014	3	2	101	1	0	0	0	0	1	0	0	0	9654	1522	53	4	1420	4	MLYCD	16	83949014	Missense_Mutation	SNP	T	TCGA-VF-A8AE-01A-11D-A435-10	26161151	83949014	6405739	46	7652											
FAM101B	359845	broad.mit.edu	37	chr17	295726	295726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccagggggagagacgctGgactcttcaaggacagagaa	13	4	16	8	1	2	2	1	0	1	2	2	8	2	5	1	4	1	1	1	4	2	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr17:295726G>T	ENST00000329099.4	-	1	4	c.5C>A	c.(4-6)cCa>cAa	p.P2Q		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	72					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)		GAGAGACGCTGGACTCTTCAA	0.463																																					.													.	FAM101B	19		0			.												11	13	12					17																	295726		1960	4078	6038	SO:0001583	missense	359845	.			GACGCTGGACTCT			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.5C>A	17.37:g.295726G>T	ENSP00000331915:p.Pro2Gln		438	0.00456621	2		372	0.01	4	.	2	0	0		Missense_Mutation	SNP	ENST00000329099.4	37		.	.	.	.	.	.	.	.	.	.	G	22.4	4.291206	0.80914	.	.	ENSG00000183688	ENST00000329099	.	.	.	5.05	4.02	0.46733	.	0.818740	0.11119	N	0.597618	T	0.40297	0.1111	N	0.14661	0.345	.	.	.	P	0.41131	0.739	P	0.46237	0.508	T	0.53535	-0.8425	8	0.87932	D	0	-10.598	12.0214	0.53346	0.0:0.1743:0.8257:0.0	.	72	Q8N5W9	F101B_HUMAN	Q	2	.	ENSP00000331915:P2Q	P	-	2	0	FAM101B	295954	1.000000	0.71417	0.962000	0.40283	0.608000	0.37181	3.622000	0.54217	2.336000	0.79503	0.650000	0.86243	CCA			0.463	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255652.1		NM_182705		T	295726	G	T	295726	3	4	101	1	0	0	0	0	1	0	0	0	5391	1335	47	3	437	3	FAM101B	17	295726	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10		295726	80899484	47	7653											
DNAH9	1770	mdanderson.org	37	chr17	11502151	11502151	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accgggcccgagcctccaggGcccgacagcttccgcggcgc	5	3	14	19	6	0	0	0	0	0	0	2	2	2	0	6	3	2	1	6	3	0	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr17:11502151G>T	ENST00000262442.4	+	1	404	c.336G>T	c.(334-336)ggG>ggT	p.G112G	DNAH9_ENST00000579828.1_Silent_p.G112G|DNAH9_ENST00000454412.2_Silent_p.G112G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	112	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)		AGCCTCCAGGGCCCGACAGCT	0.701																																					p.G112G													.	.			0			c.G336T												3	3	3					17																	11502151		1794	3739	5533	SO:0001819	synonymous_variant	1770	exon1			TCCAGGGCCCGAC	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.336G>T	17.37:g.11502151G>T			12	0	0		18	0.17	3	NM_001372	0		0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																					0.701	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252756.2		NM_001372		T	11502151	G	T	11502151	2	4	101	1	0	0	0	0	0	0	0	1	4613	1190	42	2		2	DNAH9	17	11502151	Silent	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	11206425	11502151	69693059	48	7654											
AP2B1	163	mdanderson.org	37	chr17	33984625	33984625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgactttagcactgatGcaggtgacagccctgttggc	8	12	12	9	0	0	3	0	3	0	0	0	3	0	3	1	2	3	3	1	2	2	4			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr17:33984625G>T	ENST00000262325.7	+	14	2357	c.1804G>T	c.(1804-1806)Gca>Tca	p.A602S	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.A602S|AP2B1_ENST00000537622.2_Missense_Mutation_p.A602S|AP2B1_ENST00000538556.1_Missense_Mutation_p.A545S|AP2B1_ENST00000312678.8_Missense_Mutation_p.A602S|AP2B1_ENST00000592545.1_Missense_Mutation_p.A564S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	602	Pro-rich (stalk region).				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)		TAGCACTGATGCAGGTGACAG	0.428																																					p.A602S													.	.			0			c.G1804T												99	84	89					17																	33984625		2203	4300	6503	SO:0001583	missense	163	exon14			ACTGATGCAGGTG	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.1804G>T	17.37:g.33984625G>T	ENSP00000262325:p.Ala602Ser		143	0	0		92	0.05	5	NM_001030006	34	0	0	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398681	0.25205	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.36340	1.54;1.5;1.26;1.5	5.99	5.99	0.97316	.	0.155815	0.64402	D	0.000014	T	0.19886	0.0478	N	0.11284	0.12	0.80722	D	1	B;B;B;B	0.18741	0.03;0.0;0.0;0.0	B;B;B;B	0.18871	0.023;0.0;0.0;0.001	T	0.14090	-1.0485	10	0.13470	T	0.59	0.0711	12.7288	0.57187	0.0741:0.0:0.9259:0.0	.	339;564;602;602	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	S	602;602;545;602;339	ENSP00000262325:A602S;ENSP00000314414:A602S;ENSP00000440563:A545S;ENSP00000437413:A602S	ENSP00000262325:A602S	A	+	1	0	AP2B1	31008738	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.001000	0.63946	2.840000	0.97914	0.655000	0.94253	GCA			0.428	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000448969.1				T	33984625	G	T	33984625	3	4	101	1	0	0	0	0	1	0	0	0	741	1319	46	2	1854	2	AP2B1	17	33984625	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	22482474	33984625	47210585	49	7655											
CD300C	10871	mdanderson.org	37	chr17	72537829	72537829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctcaggagcaggggcaGctccaagaggaccaggagca	12	3	15	11	0	1	1	1	0	0	1	2	4	2	4	2	5	4	5	2	5	1	0			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr17:72537829G>T	ENST00000330793.1	-	4	934	c.574C>A	c.(574-576)Ctg>Atg	p.L192M		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	192					cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGCAGGGGCAGCTCCAAGAGG	0.612																																					p.L192M	Esophageal Squamous(66;421 1121 20537 25337 27468)												.	.			0			c.C574A												98	77	84					17																	72537829		2203	4300	6503	SO:0001583	missense	10871	exon4			GGGGCAGCTCCAA	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.574C>A	17.37:g.72537829G>T	ENSP00000329507:p.Leu192Met		50	0	0		39	0.08	3	NM_006678	6	0	0		Missense_Mutation	SNP	ENST00000330793.1	37	CCDS11701.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726574	0.48833	.	.	ENSG00000167850	ENST00000330793	T	0.04015	3.73	4.74	-1.17	0.09648	.	0.428687	0.16874	N	0.195993	T	0.08088	0.0202	L	0.37697	1.125	0.21697	N	0.999589	D	0.71674	0.998	D	0.64506	0.926	T	0.22103	-1.0226	10	0.48119	T	0.1	.	3.8162	0.08817	0.1218:0.3962:0.3708:0.1112	.	192	Q08708	CLM6_HUMAN	M	192	ENSP00000329507:L192M	ENSP00000329507:L192M	L	-	1	2	CD300C	70049424	0.673000	0.27539	0.979000	0.43373	0.565000	0.35776	-0.379000	0.07437	-0.017000	0.14103	0.586000	0.80456	CTG			0.612	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000145084.1		NM_006678		T	72537829	G	T	72537829	3	4	101	1	0	0	0	0	1	0	0	0	2999	962	34	2	104	2	CD300C	17	72537829	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	38553204	72537829	8657381	50	7656											
ICT1	3396	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	73016470	73016470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggatcgcggagcccgtgCggcagaagatagccatcacg	10	5	15	11	5	1	2	1	0	0	2	2	4	1	4	2	3	3	1	2	3	2	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr17:73016470C>T	ENST00000301585.5	+	4	359	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	116					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)	p.R116R(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GGAGCCCGTGCGGCAGAAGAT	0.512																																					p.R116W													ICT1,medulla,primitive_neuroectodermal_tumour-medulloblastoma,0,1	ICT1	0	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.C346T												51	51	51					17																	73016470		2203	4300	6503	SO:0001583	missense	3396	exon4			CCCGTGCGGCAGA	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.346C>T	17.37:g.73016470C>T	ENSP00000301585:p.Arg116Trp		166	0	0		149	0.07	10	NM_001545	68	0.1	7	B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838771	0.51057	.	.	ENSG00000167862	ENST00000301585	T	0.38077	1.16	5.91	2.79	0.32731	Peptide chain release factor class I/class II (1);	0.057749	0.64402	D	0.000002	T	0.64057	0.2564	M	0.87038	2.855	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.70710	-0.4797	10	0.87932	D	0	-27.1497	14.6031	0.68456	0.5181:0.4819:0.0:0.0	.	116	Q14197	ICT1_HUMAN	W	116	ENSP00000301585:R116W	ENSP00000301585:R116W	R	+	1	2	ICT1	70528065	1.000000	0.71417	0.992000	0.48379	0.237000	0.25408	1.220000	0.32491	0.378000	0.24764	-0.953000	0.02652	CGG			0.512	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445314.1		NM_001545		T	73016470	C	T	73016470	3	4	101	1	0	0	0	0	1	0	0	0	7503	759	27	1	360	1	ICT1	17	73016470	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	478641	73016470	8178740	51	7657											
TRIM65	201292	mdanderson.org	37	chr17	73888874	73888874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgcagctctagtagctGgccttcggcctgggtggcct	3	11	14	13	2	1	0	0	0	1	0	2	0	1	0	3	4	3	4	3	4	2	4			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr17:73888874G>T	ENST00000269383.3	-	2	537	c.472C>A	c.(472-474)Cag>Aag	p.Q158K		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	158						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTAGTAGCTGGCCTTCGGCC	0.667																																					p.Q158K													.	.			0			c.C472A												49	44	45					17																	73888874		2203	4300	6503	SO:0001583	missense	201292	exon2			GTAGCTGGCCTTC	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.472C>A	17.37:g.73888874G>T	ENSP00000269383:p.Gln158Lys		23	0	0		28	0.14	4	NM_001256124	8	0	0	Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.22|10.22	1.290055|1.290055	0.23478|0.23478	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000540128|ENST00000269383	.|T	.|0.55052	.|0.54	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.000000	.|0.44285	.|D	.|0.000466	T|T	0.30008|0.30008	0.0751|0.0751	N|N	0.08118|0.08118	0|0	0.27946|0.27946	N|N	0.937347|0.937347	.|B	.|0.17667	.|0.023	.|B	.|0.24974	.|0.057	T|T	0.08953|0.08953	-1.0697|-1.0697	5|10	.|0.06099	.|T	.|0.92	.|.	13.6113|13.6113	0.62080|0.62080	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158	.|Q6PJ69	.|TRI65_HUMAN	Q|K	149|158	.|ENSP00000269383:Q158K	.|ENSP00000269383:Q158K	P|Q	-|-	2|1	0|0	TRIM65|TRIM65	71400469|71400469	0.916000|0.916000	0.31088|0.31088	0.933000|0.933000	0.37362|0.37362	0.016000|0.016000	0.09150|0.09150	2.301000|2.301000	0.43628|0.43628	2.358000|2.358000	0.79984|0.79984	0.556000|0.556000	0.70494|0.70494	CCA|CAG			0.667	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255170.2		NM_173547		T	73888874	G	T	73888874	3	4	101	1	0	0	0	0	1	0	0	0	16563	1357	47	3	1101	3	TRIM65	17	73888874	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	872404	73888874	7306336	52	7658											
AP3D1	8943	broad.mit.edu	37	chr19	2116651	2116651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggccggtgcttgggacGccgctgctcctcctcgtgga	3	8	15	15	6	0	0	0	0	0	0	3	3	2	2	4	4	2	3	4	4	0	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:2116651G>T	ENST00000345016.5	-	17	2185	c.1954C>A	c.(1954-1956)Cgt>Agt	p.R652S	AP3D1_ENST00000355272.6_Missense_Mutation_p.R652S|AP3D1_ENST00000356926.4_Missense_Mutation_p.R561S|AP3D1_ENST00000350812.6_Missense_Mutation_p.R483S	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	652					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)		TGCTTGGGACGCCGCTGCTCC	0.692																																					p.R652S													AP3D1,NS,carcinoma,+1,1	AP3D1	81	1	0			c.C1954A												24	26	26					19																	2116651		2107	4226	6333	SO:0001583	missense	8943	exon17			TGGGACGCCGCTG	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.1954C>A	19.37:g.2116651G>T	ENSP00000344055:p.Arg652Ser		95	0	0		83	0.05	4	NM_001261826	26	0	0	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	4.477	0.088375	0.08583	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.62232	2.31;0.04;1.68;0.04	5.16	4.09	0.47781	.	0.297579	0.41396	D	0.000892	T	0.32675	0.0837	N	0.01352	-0.895	0.21473	N	0.999672	B;B;B	0.20780	0.002;0.016;0.048	B;B;B	0.28849	0.006;0.055;0.095	T	0.18335	-1.0340	10	0.07175	T	0.84	-1.9319	14.5289	0.67909	0.0:0.1475:0.8525:0.0	.	652;652;561	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	S	561;652;652;652;483	ENSP00000349398:R561S;ENSP00000344055:R652S;ENSP00000347416:R652S;ENSP00000342321:R483S	ENSP00000341579:R652S	R	-	1	0	AP3D1	2067651	1.000000	0.71417	0.010000	0.14722	0.086000	0.17979	7.845000	0.86875	1.127000	0.42034	0.561000	0.74099	CGT			0.692	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000450912.1				T	2116651	G	T	2116651	3	4	101	1	0	0	0	0	1	0	0	0	746	1087	38	1	1721	1	AP3D1	19	2116651	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10		2116651	57012332	53	7659											
TMIGD2	126259	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	4292623	4292623	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccactttggggaacccTtttggcctcggctgctgggt	3	13	12	13	1	1	0	0	0	1	0	3	1	1	1	3	5	2	2	3	5	1	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:4292623T>C	ENST00000301272.2	-	5	867	c.822A>G	c.(820-822)aaA>aaG	p.K274K	TMIGD2_ENST00000600349.1_Silent_p.K102K|TMIGD2_ENST00000595645.1_Silent_p.K270K|TMIGD2_ENST00000600114.1_Silent_p.K154K	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	274	Pro-rich.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGAACCCTTTTGGCCTCG	0.642																																					p.K274K													.	.			0			c.A822G												91	102	98					19																	4292623		2203	4300	6503	SO:0001819	synonymous_variant	126259	exon5			GAACCCTTTTGGC	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.822A>G	19.37:g.4292623T>C			81	0	0		93	0.04	4	NM_144615	16	0	0	Q6UW59	Silent	SNP	ENST00000301272.2	37	CCDS12126.1																																																																																					0.642	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000458088.1		NM_144615		C	4292623	T	C	4292623	2	2	101	1	0	0	0	0	0	0	0	1	16254	1606	56	4		4	TMIGD2	19	4292623	Silent	SNP	T	TCGA-VF-A8AE-01A-11D-A435-10	2175972	4292623	54836360	54	7660											
PTPRS	5802	broad.mit.edu	37	chr19	5212058	5212058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggcatagaggctgcgtGcgggcacttctgtgttgcca	6	11	15	9	2	1	1	0	0	1	1	1	1	1	1	1	3	3	5	1	3	2	4			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:5212058G>T	ENST00000587303.1	-	31	5072	c.4973C>A	c.(4972-4974)gCa>gAa	p.A1658E	PTPRS_ENST00000357368.4_Missense_Mutation_p.A1658E|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1620E|PTPRS_ENST00000353284.2_Missense_Mutation_p.A1211E|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1620E|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1659E|PTPRS_ENST00000592099.1_Missense_Mutation_p.A1211E|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1638E			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1658					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)	GAGGCTGCGTGCGGGCACTTC	0.627																																					p.A1658E													.	PTPRS	169		0			c.C4973A												62	57	59					19																	5212058		2203	4300	6503	SO:0001583	missense	5802	exon32			CTGCGTGCGGGCA	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.4973C>A	19.37:g.5212058G>T	ENSP00000467537:p.Ala1658Glu		69	0	0		54	0.06	3	NM_002850	13	0	0	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541823	0.45280	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	2.47	2.47	0.30058	.	0.170258	0.36815	U	0.002395	T	0.62258	0.2413	M	0.92367	3.3	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;0.995;0.999;0.997;0.998;0.998	T	0.74080	-0.3780	10	0.87932	D	0	.	13.3072	0.60359	0.0:0.0:1.0:0.0	.	1240;1211;1215;1620;1658;1253	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	E	1253;1659;1658;1658;1649;1638;1620;1240;1215;1211	ENSP00000361489:A1659E;ENSP00000349932:A1658E;ENSP00000262963:A1638E;ENSP00000269907:A1620E;ENSP00000327313:A1211E	ENSP00000262963:A1638E	A	-	2	0	PTPRS	5163058	1.000000	0.71417	0.048000	0.18961	0.053000	0.15095	9.493000	0.97960	1.399000	0.46721	0.478000	0.44815	GCA			0.627	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000450762.2				T	5212058	G	T	5212058	3	4	101	1	0	0	0	0	1	0	0	0	12834	1319	46	2	901	2	PTPRS	19	5212058	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	919435	5212058	53916925	55	7661											
EVI5L	115704	mdanderson.org	37	chr19	7927945	7927945	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcgcattgccgagctgGagatccaggtgatcggcggg	7	6	18	10	4	0	2	0	1	0	1	2	4	1	2	2	5	3	3	2	5	0	1			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:7927945G>T	ENST00000270530.4	+	17	2198	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*	EVI5L_ENST00000538904.2_Nonsense_Mutation_p.E679*	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	668					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						TGCCGAGCTGGAGATCCAGGT	0.761																																					p.E679X													.	.			0			c.G2035T												6	6	6					19																	7927945		2071	4088	6159	SO:0001587	stop_gained	115704	exon17			GAGCTGGAGATCC	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.2002G>T	19.37:g.7927945G>T	ENSP00000270530:p.Glu668*		16	0	0		13	0.15	2	NM_001159944	14	0	0	B9A6I9	Nonsense_Mutation	SNP	ENST00000270530.4	37	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	G	39	7.361871	0.98235	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-17.695	15.567	0.76300	0.0:0.0:1.0:0.0	.	.	.	.	X	668;679	.	ENSP00000270530:E668X	E	+	1	0	EVI5L	7833945	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	8.619000	0.90938	2.278000	0.76064	0.484000	0.47621	GAG			0.761	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000461347.1		NM_145245		T	7927945	G	T	7927945	4	4	101	1	0	0	0	0	0	1	0	0	5297	1175	41	3	2101	3	EVI5L	19	7927945	Nonsense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	2715887	7927945	51201038	56	7662											
CCDC105	126402	mdanderson.org	37	chr19	15122038	15122038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcacgcgcgtggagcgcGcctcaccgccgcccgcctcg	3	3	14	21	11	1	0	1	0	0	0	2	1	1	1	5	1	1	1	5	1	0	0			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:15122038G>T	ENST00000292574.3	+	1	483	c.401G>T	c.(400-402)cGc>cTc	p.R134L	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	134						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGTGGAGCGCGCCTCACCGCC	0.741																																					p.R134L													.	.			0			c.G401T												4	5	5					19																	15122038		1965	3775	5740	SO:0001583	missense	126402	exon1			GAGCGCGCCTCAC	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.401G>T	19.37:g.15122038G>T	ENSP00000292574:p.Arg134Leu		35	0.0285714286	1		23	0.09	2	NM_173482	0		0	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291135	0.80914	.	.	ENSG00000160994	ENST00000292574	T	0.41400	1.0	3.77	3.77	0.43336	.	0.000000	0.47093	D	0.000258	T	0.59756	0.2217	M	0.67953	2.075	0.34957	D	0.751797	D	0.89917	1.0	D	0.87578	0.998	T	0.71958	-0.4435	10	0.72032	D	0.01	-14.7466	11.103	0.48186	0.0:0.0:1.0:0.0	.	134	Q8IYK2	CC105_HUMAN	L	134	ENSP00000292574:R134L	ENSP00000292574:R134L	R	+	2	0	CCDC105	14983038	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.434000	0.52841	1.644000	0.50603	0.462000	0.41574	CGC			0.741	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466293.1		NM_173482		T	15122038	G	T	15122038	3	4	101	1	0	0	0	0	1	0	0	0	2742	1087	38	1	403	1	CCDC105	19	15122038	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	7194093	15122038	44006945	57	7663											
FAM187B	148109	mdanderson.org	37	chr19	35719549	35719549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaccccagtgccggggcaGcaaagtggagcagcagccac	12	2	14	13	1	0	1	0	0	0	1	0	2	0	2	4	3	6	4	4	3	2	0			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:35719549G>T	ENST00000324675.3	-	1	83	c.35C>A	c.(34-36)gCt>gAt	p.A12D		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	12						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TGCCGGGGCAGCAAAGTGGAG	0.577																																					p.A12D													.	.			0			c.C35A												28	32	31					19																	35719549		2203	4298	6501	SO:0001583	missense	148109	exon1			GGGGCAGCAAAGT	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.35C>A	19.37:g.35719549G>T	ENSP00000323355:p.Ala12Asp		62	0	0		39	0.08	3	NM_152481	0		0	Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750100	0.49257	.	.	ENSG00000177558	ENST00000324675	T	0.27256	1.68	4.77	2.56	0.30785	.	0.890112	0.09577	N	0.783357	T	0.32615	0.0835	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	D	0.64410	0.925	T	0.15578	-1.0432	10	0.72032	D	0.01	-5.2482	6.4391	0.21839	0.0994:0.185:0.7156:0.0	.	12	Q17R55	F187B_HUMAN	D	12	ENSP00000323355:A12D	ENSP00000323355:A12D	A	-	2	0	FAM187B	40411389	0.004000	0.15560	0.001000	0.08648	0.017000	0.09413	1.400000	0.34577	0.697000	0.31718	0.585000	0.79938	GCT			0.577	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378854.1		NM_152481		T	35719549	G	T	35719549	3	4	101	1	0	0	0	0	1	0	0	0	5523	971	34	2	1082	2	FAM187B	19	35719549	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	20597511	35719549	23409434	58	7664											
TMEM147	10430	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36038332	36038332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctgtatgtcgccgttGtcaatgtgcactcctaggct	5	13	11	12	2	1	0	1	0	0	0	3	0	2	0	3	2	1	4	3	2	3	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:36038332G>T	ENST00000222284.5	+	7	803	c.658G>T	c.(658-660)Gtc>Ttc	p.V220F	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392204.2_Missense_Mutation_p.V171F	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	220						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			TGTCGCCGTTGTCAATGTGCA	0.542																																					p.V220F													.	TMEM147	13		0			c.G658T												65	47	53					19																	36038332		2203	4300	6503	SO:0001583	missense	10430	exon7			GCCGTTGTCAATG	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.658G>T	19.37:g.36038332G>T	ENSP00000222284:p.Val220Phe		88	0	0		72	0.08	6	NM_032635	347	0.28	97	A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114992	0.77210	.	.	ENSG00000105677	ENST00000392204;ENST00000222284	T;T	0.51574	0.7;0.7	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.978	D;P	0.83275	0.996;0.694	T	0.63528	-0.6617	10	0.62326	D	0.03	.	17.6113	0.88054	0.0:0.0:1.0:0.0	.	171;220	A8MWW0;Q9BVK8	.;TM147_HUMAN	F	171;220	ENSP00000376040:V171F;ENSP00000222284:V220F	ENSP00000222284:V220F	V	+	1	0	TMEM147	40730172	1.000000	0.71417	0.975000	0.42487	0.928000	0.56348	5.040000	0.64191	2.771000	0.95319	0.591000	0.81541	GTC			0.542	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109469.2		NM_032635		T	36038332	G	T	36038332	3	4	101	1	0	0	0	0	1	0	0	0	16084	1377	48	3	684	3	TMEM147	19	36038332	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	318783	36038332	23090651	59	7665											
ZNF585A	199704	broad.mit.edu	37	chr19	37643731	37643731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaggccttcccacactcaGtacatatggaagatttctct	12	12	6	11	0	2	1	1	0	1	1	4	2	3	2	2	2	1	1	2	2	5	5			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:37643731G>T	ENST00000356958.4	-	5	1328	c.1070C>A	c.(1069-1071)aCt>aAt	p.T357N	ZNF585A_ENST00000292841.5_Missense_Mutation_p.T302N|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T302N|ZNF585A_ENST00000355533.2_Missense_Mutation_p.T302N|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	357					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)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCACACTCAGTACATATGGA	0.408																																					p.T302N													.	ZNF585A	117		0			c.C905A												108	105	106					19																	37643731		2203	4300	6503	SO:0001583	missense	199704	exon6			CACTCAGTACATA	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1070C>A	19.37:g.37643731G>T	ENSP00000349440:p.Thr357Asn		109	0	0		144	0.03	5	NM_199126	0		0	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	G	0.001	-2.883977	0.00061	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.07444	3.19;3.19;3.19;5.46	3.13	0.555	0.17247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.420757	0.17554	N	0.170062	T	0.03011	0.0089	N	0.04768	-0.165	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.46484	-0.9188	10	0.02654	T	1	.	8.8285	0.35069	0.0:0.0:0.6088:0.3912	.	357	Q6P3V2	Z585A_HUMAN	N	357;302;302;302	ENSP00000349440:T357N;ENSP00000292841:T302N;ENSP00000375998:T302N;ENSP00000347724:T302N	ENSP00000292841:T302N	T	-	2	0	ZNF585A	42335571	0.000000	0.05858	0.373000	0.26003	0.075000	0.17131	-6.266000	0.00073	0.592000	0.29728	0.561000	0.74099	ACT			0.408	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000457980.2		NM_152655		T	37643731	G	T	37643731	3	4	101	1	0	0	0	0	1	0	0	0	18040	1029	36	3	1243	3	ZNF585A	19	37643731	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	1605399	37643731	21485252	60	7666											
PSG6	5675	mdanderson.org	37	chr19	43411800	43411800	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcacattgatagggtcCtgtttcatttctcgtgacac	8	17	7	9	1	3	2	2	2	1	0	5	2	4	2	1	1	0	1	1	1	2	6			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:43411800C>A	ENST00000292125.2	-	4	957	c.913G>T	c.(913-915)Gga>Tga	p.G305*	PSG6_ENST00000187910.2_Nonsense_Mutation_p.G305*|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	305	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGATAGGGTCCTGTTTCATTT	0.507																																					p.G305X													.	.			0			c.G913T												171	163	165					19																	43411800		2202	4295	6497	SO:0001587	stop_gained	5675	exon4			AGGGTCCTGTTTC		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.913G>T	19.37:g.43411800C>A	ENSP00000292125:p.Gly305*		51	0	0		66	0.06	4	NM_002782	0		0	O75244|Q15224|Q15235|Q549K1	Nonsense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	15.86	2.957815	0.53400	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	.	.	.	1.42	1.42	0.22433	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999968	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.2927	0.21069	0.0:1.0:0.0:0.0	.	.	.	.	X	305	.	ENSP00000187910:G305X	G	-	1	0	PSG6	48103640	0.006000	0.16342	0.300000	0.25030	0.079000	0.17450	1.877000	0.39598	0.792000	0.33850	0.134000	0.15878	GGA			0.507	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000321436.1		NM_002782		A	43411800	C	A	43411800	4	1	101	1	0	0	0	0	0	1	0	0	12679	690	24	3	445	3	PSG6	19	43411800	Nonsense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	5768069	43411800	15717183	61	7667											
NLRP9	338321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	56223293	56223293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgatgagtgctgcggCgatgtcgtcgcagcaggcac	7	6	17	11	5	0	1	0	1	0	0	2	3	0	1	0	3	3	5	0	3	0	0			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr19:56223293C>T	ENST00000332836.2	-	8	2743	c.2716G>A	c.(2716-2718)Gcc>Acc	p.A906T	CTD-2611O12.8_ENST00000596293.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	906						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)		AGTGCTGCGGCGATGTCGTCG	0.567																																					p.A906T													.	.			0			c.G2716A												92	77	82					19																	56223293		2202	4299	6501	SO:0001583	missense	338321	exon8			CTGCGGCGATGTC	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.2716G>A	19.37:g.56223293C>T	ENSP00000331857:p.Ala906Thr		147	0	0		128	0.06	8	NM_176820	486	0.19	93	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829220	0.50845	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.41400	1.0	3.24	2.18	0.27775	.	.	.	.	.	T	0.51568	0.1682	L	0.57536	1.79	0.09310	N	1	D	0.71674	0.998	P	0.59115	0.852	T	0.32955	-0.9887	9	0.62326	D	0.03	.	7.7766	0.29041	0.2493:0.7507:0.0:0.0	.	906	Q7RTR0	NALP9_HUMAN	T	906	ENSP00000331857:A906T	ENSP00000331857:A906T	A	-	1	0	NLRP9	60915105	0.005000	0.15991	0.063000	0.19743	0.023000	0.10783	-0.133000	0.10451	0.936000	0.37367	0.655000	0.94253	GCC			0.567	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453653.1		NM_176820		T	56223293	C	T	56223293	3	4	101	1	0	0	0	0	1	0	0	0	10501	768	27	1	267	1	NLRP9	19	56223293	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10	12811493	56223293	2905690	62	7668											
NCOA6	23054	broad.mit.edu	37	chr20	33345723	33345723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgttgttgCtgctgctgctgctgctgctg	0	17	14	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3	rs546356291	byFrequency	TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	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						gctgttgttgctgctgctgct	0.537													C|||	3	0.000599042	0	0	5008	,	,		18338	0.002		0	False		,,,				2504	0.001				p.Q276Q													.	NCOA6	219		0			c.G828A												93	71	78					20																	33345723		2203	4300	6503	SO:0001819	synonymous_variant	23054	exon7			TTGTTGCTGCTGC	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.828G>A	20.37:g.33345723C>T			81	0.024691358	2		82	0.06	5	NM_014071	0		0	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																					0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078811.2		NM_014071		T	33345723	C	T	33345723	2	4	101	1	0	0	0	0	0	0	0	1	10250	796	28	2		2	NCOA6	20	33345723	Silent	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10		33345723	29679797	63	7669											
COL9A3	1299	mdanderson.org	37	chr20	61461161	61461161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggtgaggctggccaccGgggctcagcggtgagtgcag	5	5	20	11	4	1	2	1	2	0	0	1	2	1	2	2	6	2	3	2	6	0	0			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chr20:61461161G>A	ENST00000343916.3	+	22	1154	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	384	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	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)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GCTGGCCACCGGGGCTCAGCG	0.662																																					p.R384Q													.	.			0			c.G1151A												24	25	25					20																	61461161		2175	4279	6454	SO:0001583	missense	1299	exon22			GCCACCGGGGCTC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1151G>A	20.37:g.61461161G>A	ENSP00000341640:p.Arg384Gln		40	0	0		44	0.07	3	NM_001853	6	0	0	Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853197	0.71719	.	.	ENSG00000092758	ENST00000343916	D	0.93307	-3.2	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	L	0.31578	0.945	0.49389	D	0.999781	D	0.71674	0.998	D	0.79108	0.992	D	0.90266	0.4304	10	0.16420	T	0.52	.	13.4919	0.61399	0.0:0.0:1.0:0.0	.	384	Q14050	CO9A3_HUMAN	Q	384	ENSP00000341640:R384Q	ENSP00000341640:R384Q	R	+	2	0	COL9A3	60931606	0.524000	0.26282	1.000000	0.80357	0.501000	0.33797	1.655000	0.37345	2.326000	0.78906	0.462000	0.41574	CGG			0.662	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080071.2		NM_001853		A	61461161	G	A	61461161	3	1	101	1	0	0	0	0	1	0	0	0	3711	1116	39	1	1237	1	COL9A3	20	61461161	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	28115438	61461161	1564359	64	7670											
NUDT10	170685	broad.mit.edu	37	chrX	51076095	51076095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaccccaagcacagaaCgtacgtgtatgtactgactg	12	7	10	12	2	0	2	0	1	0	1	0	3	0	3	3	1	4	4	3	1	5	3			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chrX:51076095C>A	ENST00000376006.3	+	2	498	c.278C>A	c.(277-279)aCg>aAg	p.T93K	NUDT10_ENST00000356450.2_Missense_Mutation_p.T93K	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.T93M(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					AAGCACAGAACGTACGTGTAT	0.572																																					p.T93K	NSCLC(90;1817 2035 37909 38249)												.	NUDT10	28		1	Substitution - Missense(1)	endometrium(1)	c.C278A												95	88	90					X																	51076095		2203	4300	6503	SO:0001583	missense	170685	exon2			ACAGAACGTACGT	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.278C>A	X.37:g.51076095C>A	ENSP00000365174:p.Thr93Lys		331	0.003021148	1		358	0.02	6	NM_153183	8	0	0	Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000376006.3	37	CCDS35278.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933408	0.73442	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.09073	3.02;3.02	3.14	2.25	0.28309	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	M	0.81341	2.54	0.44985	D	0.998007	D	0.89917	1.0	D	0.91635	0.999	T	0.36311	-0.9753	9	0.87932	D	0	-8.9853	9.3281	0.38005	0.0:0.7823:0.2177:0.0	.	93	Q8NFP7	NUD10_HUMAN	K	93	ENSP00000365174:T93K;ENSP00000348831:T93K	ENSP00000348831:T93K	T	+	2	0	NUDT10	51092835	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	7.043000	0.76572	0.510000	0.28216	0.429000	0.28392	ACG			0.572	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056578.1		NM_153183		A	51076095	C	A	51076095	3	1	101	1	0	0	0	0	1	0	0	0	10743	536	19	1	280	1	NUDT10	23	51076095	Missense_Mutation	SNP	C	TCGA-VF-A8AE-01A-11D-A435-10		51076095	104194465	65	7671											
ZNF711	7552	mdanderson.org	37	chrX	84510318	84510318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaccatattgttgtttcaGttcctgaagctgttttagtt	8	18	9	6	0	1	2	1	1	0	1	2	3	2	2	2	0	1	6	2	0	3	8			TCGA-VF-A8AE-01A-11D-A435-10	TCGA-VF-A8AE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd37d4b1-1965-4ebc-8f2b-dca4866f2253	f62cd451-1502-489e-b70d-1fbff4f809d1	g.chrX:84510318G>T	ENST00000373165.3	+	4	439	c.133G>T	c.(133-135)Gtt>Ttt	p.V45F	ZNF711_ENST00000360700.4_Missense_Mutation_p.V45F|ZNF711_ENST00000542798.1_5'Flank|ZNF711_ENST00000395402.1_Missense_Mutation_p.V23F|ZNF711_ENST00000276123.3_Missense_Mutation_p.V45F	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	45					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTTGTTTCAGTTCCTGAAGC	0.378																																					p.V45F													.	.			0			c.G133T												215	162	180					X																	84510318		2203	4300	6503	SO:0001583	missense	7552	exon4			GTTTCAGTTCCTG	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.133G>T	X.37:g.84510318G>T	ENSP00000362260:p.Val45Phe		151	0	0		126	0.04	5	NM_021998	0		0	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304042	0.81136	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700	T;T;T;T	0.15718	2.59;2.4;2.4;2.56	4.94	4.94	0.65067	.	0.000000	0.39341	N	0.001398	T	0.41971	0.1182	M	0.68593	2.085	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.987	T	0.40059	-0.9583	10	0.87932	D	0	-8.5782	17.3849	0.87413	0.0:0.0:1.0:0.0	.	45;45	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	F	23;45;45;45	ENSP00000378798:V23F;ENSP00000362260:V45F;ENSP00000276123:V45F;ENSP00000353922:V45F	ENSP00000276123:V45F	V	+	1	0	ZNF711	84396974	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.230000	0.95299	2.029000	0.59856	0.550000	0.68814	GTT			0.378	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057388.2		NM_021998		T	84510318	G	T	84510318	3	4	101	1	0	0	0	0	1	0	0	0	18139	1029	36	3	139	3	ZNF711	23	84510318	Missense_Mutation	SNP	G	TCGA-VF-A8AE-01A-11D-A435-10	33434223	84510318	70760242	66	7672											
PRAMEF7	441871	bcgsc.ca;mdanderson.org	37	chr1	12980150	12980150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacttaaggcagcccaagAtcattgtgttctgcaccgtc	9	10	11	11	1	2	1	1	0	1	1	3	2	2	2	2	2	2	3	2	2	2	3	rs113065075	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr1:12980150A>G	ENST00000361079.2	+	4	1425	c.1342A>G	c.(1342-1344)Atc>Gtc	p.I448V	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	448					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCCCAAGATCATTGTGTT	0.577													a|||	377	0.0752796	0.0129	0.1153	5008	,	,		14679	0.0188		0.1302	False		,,,				2504	0.1329				p.I448V													.	.			0			c.A1342G							A	VAL/ILE	128,3544		38,52,1746	86	84	85		1342	0.5	0	1	dbSNP_134	85	1206,6242		382,442,2900	no	missense	PRAMEF7	NM_001012277.1	29	420,494,4646	GG,GA,AA		16.1923,3.4858,11.9964	benign	448/475	12980150	1334,9786	1836	3724	5560	SO:0001583	missense	441871	exon4			CCCAAGATCATTG		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1342A>G	1.37:g.12980150A>G	ENSP00000354371:p.Ile448Val		366	0	0		318	0.08	24	NM_001012276	0		0	B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	CCDS30593.1	114	0.0521978021978022	5	0.01016260162601626	28	0.07734806629834254	6	0.01048951048951049	75	0.09894459102902374	.	0.013	-1.613353	0.00835	0.034858	0.161923	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.46451	0.87;0.87	1.68	0.495	0.16890	.	2.160190	0.02169	N	0.059557	T	0.00109	0.0003	N	0.19112	0.55	0.09310	N	1	B	0.23316	0.083	B	0.21151	0.033	T	0.06862	-1.0803	10	0.22706	T	0.39	.	3.5692	0.07910	0.7802:0.0:0.2198:0.0	.	448	Q5VXH5	PRAM7_HUMAN	V	448	ENSP00000354371:I448V;ENSP00000328915:I448V	ENSP00000328915:I448V	I	+	1	0	PRAMEF7	12902737	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	0.121000	0.15667	0.121000	0.18284	0.254000	0.18369	ATC			0.577	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001012277		G	12980150	A	G	12980150	3	3	102	1	0	0	0	0	1	0	0	0	12459	333	12	4	1352	4	PRAMEF7	1	12980150	Missense_Mutation	SNP	A	TCGA-W4-A7U2-01A-11D-A435-10		12980150	236270471	1	7673											
OR10X1	128367	bcgsc.ca	37	chr1	158549420	158549421	+	Missense_Mutation	DNP	CG	CG	TA																															atcttggggacgatggtcagCgtatagcaggtctcagagaa																								rs863361|rs77690058	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	CG	CG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr1:158549420_158549421CG>TA	ENST00000368150.1	-	1	268_269	c.269_270CG>TA	c.(268-270)aCG>aTA	p.T90I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	90						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(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CGATGGTCAGCGTATAGCAGGT	0.495																																					p.T90I													OR10X1,face,carcinoma,-1,1	OR10X1	96	1	0			c.C269T																																									SO:0001583	missense	128367	exon1			GGTCAGCGTATAG	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.269_270delinsTA	1.37:g.158549420_158549421delinsTA	ENSP00000357132:p.Thr90Ile		126	0.0079365079	1		151	0.05	7	NM_001004477	0		0	Q6IFR8	Missense_Mutation	DNP	ENST00000368150.1	37	CCDS30900.1																																																																																					0.495	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051850.2		NM_001004477		TA	158549421	CG	TA	158549420	3	4	102	1	0	0	0	0	1	0	0	0	10939	755	27	1	705	1	OR10X1	1	158549420	Missense_Mutation	DNP	CG	TCGA-W4-A7U2-01A-11D-A435-10	145569270	158549420	90701201	2	7674											
UAP1	6675	ucsc.edu	37	chr1	162549362	162549362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgggaaaattattttGgaagagaagaacaaagtttc	16	13	10	2	0	0	3	0	1	0	2	1	6	0	5	0	2	1	1	0	2	7	5			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr1:162549362G>T	ENST00000367925.1	+	3	662	c.630G>T	c.(628-630)ttG>ttT	p.L210F	UAP1_ENST00000271469.3_Missense_Mutation_p.L210F|UAP1_ENST00000367926.4_Missense_Mutation_p.L210F|UAP1_ENST00000367924.1_Missense_Mutation_p.L210F			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	210					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)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AAATTATTTTGGAAGAGAAGA	0.338																																					p.L210F													.	UAP1	47		0			c.G630T												70	73	72					1																	162549362		2200	4299	6499	SO:0001583	missense	6675	exon4			TATTTTGGAAGAG	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.630G>T	1.37:g.162549362G>T	ENSP00000356902:p.Leu210Phe		51	0	0		43	0.09	4	NM_003115	98	0	0	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37		.	.	.	.	.	.	.	.	.	.	G	19.49	3.837886	0.71373	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.38	1.4	0.22301	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	M	0.83384	2.64	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	T	0.24799	-1.0150	9	0.87932	D	0	-15.2827	8.7399	0.34552	0.3742:0.0:0.6258:0.0	.	210	Q16222-2	.	F	210	ENSP00000395648:L210F;ENSP00000356903:L210F;ENSP00000271469:L210F;ENSP00000356902:L210F;ENSP00000356901:L210F	ENSP00000271469:L210F	L	+	3	2	UAP1	160815986	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.520000	0.35899	0.008000	0.14787	0.655000	0.94253	TTG			0.338	UAP1-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000083203.1		NM_003115		T	162549362	G	T	162549362	3	4	102	1	0	0	0	0	1	0	0	0	16849	1339	47	3	640	3	UAP1	1	162549362	Missense_Mutation	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10	3999942	162549362	86701259	3	7675											
MFF	56947	bcgsc.ca	37	chr2	228194480	228194481	+	Missense_Mutation	DNP	AG	AG	TT																															aaatgagtaaaggaacaagcAgtgacacatcactaggaagg																								rs3211098|rs3211097|rs386655869	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr2:228194480_228194481AG>TT	ENST00000353339.3	+	3	460_461	c.19_20AG>TT	c.(19-21)AGt>TTt	p.S7F	MFF_ENST00000349901.7_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000337110.7_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000409616.1_5'UTR|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.S7F	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	7			S -> C (in dbSNP:rs3211097).|S -> I (in dbSNP:rs3211098).		mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGGAACAAGCAGTGACACATCA	0.366																																					p.S7F													.	MFF	48		0			c.G20T																																									SO:0001583	missense	56947	exon3			ACAAGCAGTGACA	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	Exception_encountered	2.37:g.228194480_228194481delinsTT	ENSP00000302037:p.Ser7Phe		285	0.0070175439	2		339	0.09	29	NM_020194	28	0	0	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	DNP	ENST00000353339.3	37	CCDS2465.1																																																																																					0.366	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256887.2		NM_020194		TT	228194481	AG	TT	228194480	3	4	102	1	0	0	0	0	1	0	0	0	9535	188	7	5	21	5	MFF	2	228194480	Missense_Mutation	DNP	AG	TCGA-W4-A7U2-01A-11D-A435-10		228194480	15004893	4	7676											
GOLGA4	2803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	37340359	37340359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaaaacactggaaacaCtccagcaaagagtgaagcgt	17	6	9	9	1	0	2	0	1	0	1	1	3	1	3	1	1	4	2	1	1	6	1			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr3:37340359C>G	ENST00000361924.2	+	8	1224	c.850C>G	c.(850-852)Ctc>Gtc	p.L284V	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.L306V|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	284	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						ACTGGAAACACTCCAGCAAAG	0.368																																					p.L306V													.	.			0			c.C916G												104	104	104					3																	37340359		2203	4300	6503	SO:0001583	missense	2803	exon9			GAAACACTCCAGC	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.850C>G	3.37:g.37340359C>G	ENSP00000354486:p.Leu284Val		285	0	0		253	0.2	50	NM_001172713	134	0.31	41	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325942	0.60743	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.22	5.22	0.72569	.	0.000000	0.32736	N	0.005717	T	0.63663	0.2530	M	0.74258	2.255	0.30335	N	0.786283	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.991;0.99	T	0.61510	-0.7048	10	0.23891	T	0.37	.	17.3166	0.87226	0.0:1.0:0.0:0.0	.	284;306;284	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	V	284;306;289;155	ENSP00000354486:L284V;ENSP00000349305:L306V;ENSP00000387633:L289V;ENSP00000405842:L155V	ENSP00000349305:L306V	L	+	1	0	GOLGA4	37315363	1.000000	0.71417	0.460000	0.27093	0.705000	0.40729	3.153000	0.50685	2.613000	0.88420	0.643000	0.83706	CTC			0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000253339.2		NM_002078		G	37340359	C	G	37340359	3	3	102	1	0	0	0	0	1	0	0	0	6569	565	20	5	950	5	GOLGA4	3	37340359	Missense_Mutation	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10		37340359	160682071	5	7677											
ITIH4	3700	hgsc.bcm.edu	37	chr3	52852482	52852482	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttgggggcaccttcGattttcatattcatgacacg	7	13	10	11	2	2	1	2	1	0	0	3	2	2	1	2	3	0	1	2	3	1	6			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr3:52852482G>T	ENST00000266041.4	-	18	2244	c.2148C>A	c.(2146-2148)atC>atA	p.I716I	ITIH4_ENST00000346281.5_Silent_p.I686I|ITIH4_ENST00000406595.1_Silent_p.I686I|ITIH4_ENST00000485816.1_Silent_p.I721I|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'Flank	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	716					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGGCACCTTCGATTTTCATAT	0.552																																					p.I716I													.	.			0			c.C2148A												54	51	52					3																	52852482		2203	4299	6502	SO:0001819	synonymous_variant	3700	exon18			ACCTTCGATTTTC	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2148C>A	3.37:g.52852482G>T			96	0	0		119	0.04	5	NM_002218	26	0	0	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	CCDS2865.1																																																																																					0.552	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317715.1		NM_002218		T	52852482	G	T	52852482	2	4	102	1	0	0	0	0	0	0	0	1	7921	1048	37	1		1	ITIH4	3	52852482	Silent	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10	15512123	52852482	145169948	6	7678											
PCDHB4	56131	ucsc.edu;bcgsc.ca	37	chr5	140502343	140502344	+	Missense_Mutation	DNP	CC	CC	TT																															tgcaggtcctggaaaacagcCccctagactctccaattgtt																								rs3733697|rs3733698|rs377479392	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	CC	CC					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr5:140502343_140502344CC>TT	ENST00000194152.1	+	1	763_764	c.763_764CC>TT	c.(763-765)CCc>TTc	p.P255F	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> L (in dbSNP:rs3733697).|P -> S (in dbSNP:rs3733698).		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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAAACAGCCCCCTAGACTCT	0.455																																					p.P255F													.	PCDHB4	177		0			c.C764T																																									SO:0001583	missense	56131	exon1			AACAGCCCCCTAG	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	Exception_encountered	5.37:g.140502343_140502344delinsTT	ENSP00000194152:p.Pro255Phe		125	0.008	1		75	0.11	8	NM_018938	0		0	Q4V761	Missense_Mutation	DNP	ENST00000194152.1	37	CCDS4246.1																																																																																					0.455	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251812.2		NM_018938		TT	140502344	CC	TT	140502343	3	4	102	1	0	0	0	0	1	0	0	0	11561	623	22	3	765	3	PCDHB4	5	140502343	Missense_Mutation	DNP	CC	TCGA-W4-A7U2-01A-11D-A435-10		140502343	40412917	7	7679											
FLT4	2324	hgsc.bcm.edu	37	chr5	180048756	180048756	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagcagaagcgggttcccGtgcgcatcgtgcagcgtgga	7	7	16	11	6	0	1	0	0	0	1	3	3	1	2	1	2	5	4	1	2	1	1			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr5:180048756G>A	ENST00000261937.6	-	13	1884	c.1806C>T	c.(1804-1806)caC>caT	p.H602H	FLT4_ENST00000393347.3_Silent_p.H602H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.H602H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	602	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)	GCGGGTTCCCGTGCGCATCGT	0.667																																					p.H602H	Colon(97;1075 1466 27033 27547 35871)												.	.			0			c.C1806T												81	70	73					5																	180048756		2203	4300	6503	SO:0001819	synonymous_variant	2324	exon13			GTTCCCGTGCGCA	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.1806C>T	5.37:g.180048756G>A			85	0	0		73	0.05	4	NM_182925	6	0	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	CCDS4457.1																																																																																					0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253527.4				A	180048756	G	A	180048756	2	1	102	1	0	0	0	0	0	0	0	1	5957	1136	40	1		1	FLT4	5	180048756	Silent	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10	39546413	180048756	866504	8	7680											
DEK	7913	bcgsc.ca	37	chr6	18264096	18264096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctcctcctcctcctcCtcgtcgtcctcgtcctcttc	0	17	3	21	3	1	0	0	0	1	0	13	0	9	0	8	0	0	0	8	0	0	3	rs147127829	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr6:18264096C>G	ENST00000397239.3	-	2	570	c.123G>C	c.(121-123)gaG>gaC	p.E41D	DEK_ENST00000244776.7_Missense_Mutation_p.E41D	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	41	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			cctcctcctcctcgtcgtcct	0.562			T	NUP214	AML								C|||	10	0.00199681	0.0068	0	5008	,	,		14423	0		0	False		,,,				2504	0.001				p.E41D				Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	.	DEK	31		0			c.G123C							-	ASP/GLU,ASP/GLU	8,4398	14.3+/-33.2	0,8,2195	43	47	45		123,123	-3.7	0.1	6	dbSNP_134	45	0,8600		0,0,4300	yes	missense,missense	DEK	NM_001134709.1,NM_003472.3	45,45	0,8,6495	GG,GC,CC		0.0,0.1816,0.0615	benign,benign	41/342,41/376	18264096	8,12998	2203	4300	6503	SO:0001583	missense	7913	exon2			CTCCTCCTCGTCG	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.123G>C	6.37:g.18264096C>G	ENSP00000380414:p.Glu41Asp		130	0.0076923077	1		157	0.05	8	NM_003472	79	0	0	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.267	0.417416	0.11870	0.001816	0.0	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000515742	T;T;T	0.51817	0.76;0.85;0.69	4.57	-3.65	0.04502	.	0.440668	0.20131	N	0.098587	T	0.09598	0.0236	L	0.48642	1.525	0.22880	N	0.998611	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38585	-0.9654	10	0.12766	T	0.61	-5.206	1.3254	0.02124	0.2162:0.3697:0.1081:0.306	.	41;41	B4DN37;P35659	.;DEK_HUMAN	D	41;41;46	ENSP00000380414:E41D;ENSP00000244776:E41D;ENSP00000423553:E46D	ENSP00000244776:E41D	E	-	3	2	DEK	18372075	0.003000	0.15002	0.050000	0.19076	0.529000	0.34654	-2.192000	0.01245	-1.460000	0.01911	-2.294000	0.00264	GAG			0.562	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039962.4				G	18264096	C	G	18264096	3	3	102	1	0	0	0	0	1	0	0	0	4429	680	24	5	1044	5	DEK	6	18264096	Missense_Mutation	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10		18264096	152850971	9	7681											
ZNF322A	79692	bcgsc.ca	37	chr6	26637724	26637724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttttatcacatacagtgTatttatagtgtagctcctct	10	17	6	8	0	2	0	1	0	1	0	3	0	3	0	1	0	3	4	1	0	6	8	rs139332558	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr6:26637724T>C	ENST00000415922.2	-	4	1703	c.1058A>G	c.(1057-1059)tAc>tGc	p.Y353C	ZNF322_ENST00000471278.1_Missense_Mutation_p.Y353C|ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	353					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)										ACATACAGTGTATTTATAGTG	0.428													T|||	88	0.0175719	0.0015	0.0259	5008	,	,		23200	0		0.0676	False		,,,				2504	0				p.Y353C													.	.			0			c.A1058G							T	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	64,4340	50.9+/-86.3	0,64,2138	134	105	115		1058,1058,1058,1058	3.8	0.3	6	dbSNP_134	115	647,7943	154.5+/-208.7	16,615,3664	no	missense,missense,missense,missense	ZNF322	NM_001242797.1,NM_001242798.1,NM_001242799.1,NM_024639.4	194,194,194,194	16,679,5802	CC,CT,TT		7.532,1.4532,5.4718	probably-damaging,probably-damaging,probably-damaging,probably-damaging	353/403,353/403,353/403,353/403	26637724	711,12283	2202	4295	6497	SO:0001583	missense	79692	exon5			ACAGTGTATTTAT	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.1058A>G	6.37:g.26637724T>C	ENSP00000418897:p.Tyr353Cys		506	0.0039525692	2		465	0.03	16	NM_001242797	67	0	0	A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	t	0.330	-0.956764	0.02267	0.014532	0.07532	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.04360	3.64;3.64	4.9	3.76	0.43208	.	0.000000	0.41605	D	0.000856	T	0.00210	0.0006	N	0.00008	-3.13	0.42258	D	0.992006	B	0.06786	0.001	B	0.04013	0.001	T	0.48790	-0.9004	10	0.02654	T	1	-15.2221	5.5273	0.16964	0.0:0.1858:0.0:0.8142	.	353	Q6U7Q0	ZN322_HUMAN	C	353	ENSP00000418897:Y353C;ENSP00000419728:Y353C	ENSP00000418897:Y353C	Y	-	2	0	ZNF322	26745703	0.998000	0.40836	0.261000	0.24466	0.951000	0.60555	3.629000	0.54266	2.171000	0.68590	0.533000	0.62120	TAC			0.428	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040126.2		NM_024639		C	26637724	T	C	26637724	3	2	102	1	0	0	0	0	1	0	0	0	17864	1638	57	4	154	4	ZNF322A	6	26637724	Missense_Mutation	SNP	T	TCGA-W4-A7U2-01A-11D-A435-10	8373628	26637724	144477343	10	7682											
ZKSCAN3	80317	bcgsc.ca	37	chr6	28331127	28331128	+	Missense_Mutation	DNP	AA	AA	GC																															gaggatgctgcagagaagatAaagtggtagcttctaggctt																								rs13201752|rs13201753|rs371085669	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	AA	AA					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr6:28331127_28331128AA>GC	ENST00000377255.3	+	5	895_896	c.598_599AA>GC	c.(598-600)AAa>GCa	p.K200A	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K200A|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K52A	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	200			K -> A (requires 2 nucleotide substitutions; dbSNP:rs13201752). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.|K -> E (in dbSNP:rs45505399). {ECO:0000269|PubMed:14702039}.|K -> T (in dbSNP:rs13201753).		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						CAGAGAAGATAAAGTGGTAGCT	0.54																																					p.K200A													ZKSCAN3,NS,other,-1,1	ZKSCAN3	50	1	0			c.A599C																																									SO:0001583	missense	80317	exon4			GAAGATAAAGTGG	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	Exception_encountered	6.37:g.28331127_28331128delinsGC	ENSP00000366465:p.Lys200Ala		88	0	0		71	0.07	5	NM_024493	34	0	0	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	DNP	ENST00000377255.3	37	CCDS4650.1																																																																																					0.54	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040189.3		NM_024493		GC	28331128	AA	GC	28331127	3	3	102	1	0	0	0	0	1	0	0	0	17711	363	13	4	608	4	ZKSCAN3	6	28331127	Missense_Mutation	DNP	AA	TCGA-W4-A7U2-01A-11D-A435-10	1693403	28331127	142783940	11	7683											
HLA-DQA1	3117	bcgsc.ca	37	chr6	32610008	32610009	+	Missense_Mutation	DNP	CC	CC	TG																															gtggagcactggggcctggaCcagcctcttctgaaacactg																								rs2308890|rs2308891	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	CC	CC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr6:32610008_32610009CC>TG	ENST00000343139.5	+	3	693_694	c.591_592CC>TG	c.(589-594)gaCCag>gaTGag	p.Q198E	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.Q198E|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.Q198E	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	197	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|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 receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GGGGCCTGGACCAGCCTCTTCT	0.446																																					p.Q198E													.	HLA-DQA1	52		0			c.C592G																																									SO:0001583	missense	3117	exon3			CCTGGACCAGCCT		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	Exception_encountered	6.37:g.32610008_32610009delinsTG	ENSP00000339398:p.Gln198Glu		511	0	0		468	0.03	15	NM_002122	669	0	0	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	DNP	ENST00000343139.5	37	CCDS4752.1																																																																																					0.446	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076176.3		NM_002122		TG	32610009	CC	TG	32610008	3	4	102	1	0	0	0	0	1	0	0	0	7219	506	18	3	601	3	HLA-DQA1	6	32610008	Missense_Mutation	DNP	CC	TCGA-W4-A7U2-01A-11D-A435-10	4278881	32610008	138505059	12	7684											
MICAL1	64780	bcgsc.ca	37	chr6	109767930	109767931	+	Missense_Mutation	DNP	GC	GC	TT																															ggcctctatcgctgccttccGctttgtggtctgtctggggc																								rs552227069|rs59056467|rs9320288|rs35260632	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	GC	GC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr6:109767930_109767931GC>TT	ENST00000358807.3	-	18	2583_2584	c.2272_2273GC>AA	c.(2272-2274)GCg>AAg	p.A758K	MICAL1_ENST00000358577.3_Missense_Mutation_p.A672K|MICAL1_ENST00000368952.4_Missense_Mutation_p.A777K	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	758			A -> E (in dbSNP:rs9320288).|A -> K (requires 2 nucleotide substitutions; dbSNP:rs35260632). {ECO:0000269|PubMed:11827972, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.|A -> S (in dbSNP:rs59056467).|A -> T (in dbSNP:rs59056467).		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)		GCTGCCTTCCGCTTTGTGGTCT	0.574																																					p.A777K													.	MICAL1	79		0			c.G2272A																																									SO:0001583	missense	64780	exon18			CCTTCCGCTTTGT	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.2272_2273delinsTT	6.37:g.109767930_109767931delinsTT	ENSP00000351664:p.Ala758Lys		230	0	0		187	0.04	8	NM_022765	457	0	0	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	DNP	ENST00000358807.3	37	CCDS5076.1																																																																																					0.574	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041759.2		NM_022765		TT	109767931	GC	TT	109767930	3	4	102	1	0	0	0	0	1	0	0	0	9585	1087	38	1	962	1	MICAL1	6	109767930	Missense_Mutation	DNP	GC	TCGA-W4-A7U2-01A-11D-A435-10	77157922	109767930	61347137	13	7685											
ZNF804B	219578	bcgsc.ca	37	chr7	88964226	88964227	+	Missense_Mutation	DNP	CC	CC	AG																															ataaattgattccctgcagtCctcatttggaatttgaagat																								rs71526642|rs76870774|rs79931924	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	CC	CC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr7:88964226_88964227CC>AG	ENST00000333190.4	+	4	2539_2540	c.1930_1931CC>AG	c.(1930-1932)CCt>AGt	p.P644S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	644							metal ion binding (GO:0046872)	p.P644R(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCCTGCAGTCCTCATTTGGAA	0.406										HNSCC(36;0.09)																											p.P644S													ZNF804B,NS,carcinoma,0,1	ZNF804B	322	1	1	Substitution - Missense(1)	pancreas(1)	c.C1931G																																									SO:0001583	missense	219578	exon4			TGCAGTCCTCATT	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	Exception_encountered	7.37:g.88964226_88964227delinsAG	ENSP00000329638:p.Pro644Ser		173	0	0		186	0.04	7	NM_181646	0		0	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	DNP	ENST00000333190.4	37	CCDS5613.1																																																																																					0.406	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253683.2		NM_181646		AG	88964227	CC	AG	88964226	3	1	102	1	0	0	0	0	1	0	0	0	18194	855	30	3	1944	3	ZNF804B	7	88964226	Missense_Mutation	DNP	CC	TCGA-W4-A7U2-01A-11D-A435-10		88964226	70174437	14	7686											
AUH	549	bcgsc.ca	37	chr9	94060353	94060353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaattgttggtactggaaGattagctgaaatggaaagaa	15	11	12	3	0	0	3	0	1	0	2	0	5	0	5	0	3	3	4	0	3	7	4			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr9:94060353G>T	ENST00000375731.4	-	5	534	c.511C>A	c.(511-513)Ctt>Att	p.L171I	AUH_ENST00000303617.5_Missense_Mutation_p.L142I|AUH_ENST00000478465.1_5'UTR|AUH_ENST00000422391.2_Missense_Mutation_p.L171I	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	171					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GGTACTGGAAGATTAGCTGAA	0.328																																					p.L171I													.	AUH	32		0			c.C511A												95	90	92					9																	94060353		2203	4300	6503	SO:0001583	missense	549	exon5			CTGGAAGATTAGC	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"AU RNA-binding protein/enoyl-Coenzyme A hydratase", "AU RNA binding protein/enoyl-Coenzyme A hydratase"			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.511C>A	9.37:g.94060353G>T	ENSP00000364883:p.Leu171Ile		91	0	0		78	0.06	5	NM_001698	80	0	0	B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	ENST00000375731.4	37	CCDS6689.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012146	0.75046	.	.	ENSG00000148090	ENST00000375731;ENST00000303617;ENST00000422391	T;T;T	0.78816	-1.21;-1.21;-1.21	5.05	5.05	0.67936	Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	M	0.73372	2.23	0.80722	D	1	P;D;D	0.61080	0.946;0.963;0.989	D;P;D	0.71870	0.956;0.907;0.975	T	0.80750	-0.1243	10	0.08179	T	0.78	.	18.2084	0.89863	0.0:0.0:1.0:0.0	.	171;142;171	B4DYI6;Q13825-2;Q13825	.;.;AUHM_HUMAN	I	171;142;171	ENSP00000364883:L171I;ENSP00000307334:L142I;ENSP00000402026:L171I	ENSP00000307334:L142I	L	-	1	0	AUH	93100174	1.000000	0.71417	0.964000	0.40570	0.797000	0.45037	7.476000	0.81055	2.630000	0.89119	0.591000	0.81541	CTT			0.328	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053032.1				T	94060353	G	T	94060353	3	4	102	1	0	0	0	0	1	0	0	0	1219	942	33	3	532	3	AUH	9	94060353	Missense_Mutation	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10		94060353	47153078	15	7687											
LAMC3	10319	bcgsc.ca	37	chr9	133901819	133901820	+	Missense_Mutation	DNP	CC	CC	AG																															ccagaagacctacggccggcCcgagggccagtacctgcgcc																								rs2275136|rs386738954|rs2275137	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	CC	CC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr9:133901819_133901820CC>AG	ENST00000361069.4	+	2	654_655	c.521_522CC>AG	c.(520-522)cCC>cAG	p.P174Q	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	174	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)		TACGGCCGGCCCGAGGGCCAGT	0.678																																					p.P174Q													.	LAMC3	167		0			c.C522G																																									SO:0001583	missense	10319	exon2			GCCGGCCCGAGGG	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	Exception_encountered	9.37:g.133901819_133901820delinsAG	ENSP00000354360:p.Pro174Gln		193	0	0		163	0.06	9	NM_006059	12	0	0	B1APX9|B1APY0|Q59H72	Missense_Mutation	DNP	ENST00000361069.4	37	CCDS6938.1																																																																																					0.678	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054717.3		NM_006059		AG	133901820	CC	AG	133901819	3	1	102	1	0	0	0	0	1	0	0	0	8631	623	22	3	527	3	LAMC3	9	133901819	Missense_Mutation	DNP	CC	TCGA-W4-A7U2-01A-11D-A435-10	39841466	133901819	7311612	16	7688											
MYO3A	53904	ucsc.edu;bcgsc.ca	37	chr10	26357747	26357748	+	Missense_Mutation	DNP	CG	CG	TA																															tattccagagatcagatctaCgtctatgtgggagacatact																								rs35379457|rs3817420|rs386742102	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	CG	CG					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr10:26357747_26357748CG>TA	ENST00000265944.5	+	12	1270_1271	c.1104_1105CG>TA	c.(1102-1107)taCGtc>taTAtc	p.V369I	MYO3A_ENST00000543632.1_Missense_Mutation_p.V369I	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	369	Myosin motor.		V -> I (in dbSNP:rs3817420). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGATCTACGTCTATGTGGG	0.371																																					p.V369I													.	MYO3A	371		0			c.G1105A																																									SO:0001583	missense	53904	exon12			GATCTACGTCTAT	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	Exception_encountered	10.37:g.26357747_26357748delinsTA	ENSP00000265944:p.Val369Ile		84	0	0		86	0.1	9	NM_017433	6	0	0	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	DNP	ENST00000265944.5	37	CCDS7148.1																																																																																					0.371	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047259.1		NM_017433		TA	26357748	CG	TA	26357747	3	4	102	1	0	0	0	0	1	0	0	0	10092	547	19	1	1142	1	MYO3A	10	26357747	Missense_Mutation	DNP	CG	TCGA-W4-A7U2-01A-11D-A435-10		26357747	109177000	17	7689											
KIAA0913	23053	bcgsc.ca	37	chr10	75551642	75551642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaactgtgtacgcagctgCggcagtggcaactgaaggtg	9	7	17	8	2	0	1	0	1	0	0	0	2	0	2	0	4	5	5	0	4	4	1	rs201390871	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr10:75551642C>T	ENST00000605216.1	+	10	1562	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R449W|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R449W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R449W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R449W	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	449							zinc ion binding (GO:0008270)										TACGCAGCTGCGGCAGTGGCA	0.632													C|||	6	0.00119808	8e-04	0.0058	5008	,	,		17125	0		0.001	False		,,,				2504	0				p.R449W													.	.			0			c.C1345T							C	TRP/ARG,TRP/ARG,TRP/ARG	0,3946		0,0,1973	10	13	12		1345,1345,1345	5.4	1	10		12	1,8145		0,1,4072	yes	missense,missense,missense	KIAA0913	NM_001242487.1,NM_001242488.1,NM_015037.3	101,101,101	0,1,6045	TT,TC,CC		0.0123,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging	449/1838,449/1893,449/1843	75551642	1,12091	1973	4073	6046	SO:0001583	missense	23053	exon10			CAGCTGCGGCAGT	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.1345C>T	10.37:g.75551642C>T	ENSP00000474748:p.Arg449Trp		96	0	0		74	0.07	5	NM_015037	28	0	0	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		6|6	0.0027472527472527475|0.0027472527472527475	0|0	0.0|0.0	3|3	0.008287292817679558|0.008287292817679558	0|0	0.0|0.0	3|3	0.00395778364116095|0.00395778364116095	C|C	16.94|16.94	3.261520|3.261520	0.59431|0.59431	0.0|0.0	1.23E-4|1.23E-4	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000398706	.|T	.|0.73575	.|-0.76	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.111390	.|0.34314	.|U	.|0.004079	T|T	0.68247|0.68247	0.2980|0.2980	N|N	0.22421|0.22421	0.69|0.69	0.41976|0.41976	D|D	0.990776|0.990776	.|D;D;D	.|0.71674	.|0.998;0.998;0.998	.|P;P;P	.|0.59546	.|0.802;0.859;0.802	T|T	0.75545|0.75545	-0.3280|-0.3280	5|10	.|0.72032	.|D	.|0.01	-6.8518|-6.8518	13.9614|13.9614	0.64182|0.64182	0.1873:0.8127:0.0:0.0|0.1873:0.8127:0.0:0.0	.|.	.|449;449;449	.|A7E2V4;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.	V|W	171|449	.|ENSP00000381693:R449W	.|ENSP00000381693:R449W	A|R	+|+	2|1	0|2	KIAA0913|KIAA0913	75221648|75221648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.827000|0.827000	0.46813|0.46813	3.333000|3.333000	0.52090|0.52090	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCG|CGG			0.632	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000468545.1		NM_001242487		T	75551642	C	T	75551642	3	4	102	1	0	0	0	0	1	0	0	0	8215	759	27	1	1383	1	KIAA0913	10	75551642	Missense_Mutation	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10	49193895	75551642	59983105	18	7690											
LOC653486	147199	bcgsc.ca	37	chr11	194441	194441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgctgggcagtcaggaCggtgcctaagtggacctcag	9	7	15	10	1	2	0	2	0	0	0	2	2	2	2	2	4	2	2	2	4	2	1	rs61997072	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr11:194441C>T	ENST00000342878.2	+	3	299	c.279C>T	c.(277-279)gaC>gaT	p.D93D	ODF3_ENST00000325113.4_5'Flank|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000342593.5_5'Flank|ODF3_ENST00000525282.1_5'Flank	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	93						extracellular region (GO:0005576)				endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCAGTCAGGACGGTGCCTAAG	0.567																																					p.D93D													.	.			0			c.C279T							C		367,3961		0,367,1797	152	159	156		279	-8.3	0	11	dbSNP_129	156	1062,7450		0,1062,3194	no	coding-synonymous	SCGB1C1	NM_145651.2		0,1429,4991	TT,TC,CC		12.4765,8.4797,11.1293		93/96	194441	1429,11411	2164	4256	6420	SO:0001819	synonymous_variant	147199	exon3			TCAGGACGGTGCC	AY026938	CCDS41581.1	11p15.5	2011-12-14			ENSG00000188076	ENSG00000188076		"Secretoglobins"	18394	protein-coding gene	gene with protein product		610176				22155607	Standard	NM_145651		Approved	RYD5	uc001loa.1	Q8TD33	OTTHUMG00000165539	ENST00000342878.2:c.279C>T	11.37:g.194441C>T			124	0	0		86	0.07	6	NM_001097610	1	0	0	A8MSI9|Q14DW0	Silent	SNP	ENST00000342878.2	37	CCDS41581.1																																																																																					0.567	SCGB1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384759.1		NM_145651		T	194441	C	T	194441	2	4	102	1	0	0	0	0	0	0	0	1	8902	535	19	1		1	LOC653486	11	194441	Silent	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10		194441	134812075	19	7691											
FIBP	9158	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65651461	65651461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcagtcatgatacaggCgcaggaggcagccgcggagg	10	4	15	12	3	2	1	2	1	0	0	2	3	2	3	2	5	2	2	2	5	1	1	rs140853801		TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr11:65651461C>T	ENST00000338369.2	-	10	1191	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	FIBP_ENST00000357519.4_Missense_Mutation_p.R353H|FIBP_ENST00000533045.1_Silent_p.A345A|FIBP_ENST00000426652.2_5'Flank	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	360					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		ATGATACAGGCGCAGGAGGCA	0.592											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R360H													FIBP,colon,carcinoma,0,1	FIBP	0	1	0			c.G1079A							C	HIS/ARG,HIS/ARG	3,4399	6.2+/-15.9	0,3,2198	67	61	63		1058,1079	3.9	1	11	dbSNP_134	63	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense	FIBP	NM_004214.4,NM_198897.1	29,29	0,4,6493	TT,TC,CC		0.0116,0.0682,0.0308	benign,benign	353/358,360/365	65651461	4,12990	2201	4296	6497	SO:0001583	missense	9158	exon10			TACAGGCGCAGGA	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.1079G>A	11.37:g.65651461C>T	ENSP00000344572:p.Arg360His		89	0	0	1085	75	0.13	10	NM_198897	219	0.19	42	A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	ENST00000338369.2	37	CCDS8119.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433949	0.62955	6.82E-4	1.16E-4	ENSG00000172500	ENST00000338369;ENST00000357519	T;T	0.25250	1.81;1.81	4.83	3.9	0.45041	.	0.132036	0.50627	D	0.000117	T	0.22205	0.0535	L	0.36672	1.1	0.80722	D	1	D;D	0.54207	0.957;0.965	B;P	0.46389	0.294;0.515	T	0.01133	-1.1441	10	0.72032	D	0.01	-15.6946	6.7408	0.23435	0.0:0.8028:0.0:0.1972	.	353;360	O43427-2;O43427	.;FIBP_HUMAN	H	360;353	ENSP00000344572:R360H;ENSP00000350124:R353H	ENSP00000344572:R360H	R	-	2	0	FIBP	65408037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.987000	0.49378	2.385000	0.81259	0.555000	0.69702	CGC	0		0.592	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000391575.2		NM_198897		T	65651461	C	T	65651461	3	4	102	1	0	0	0	0	1	0	0	0	5899	768	27	1	19	1	FIBP	11	65651461	Missense_Mutation	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10	65457020	65651461	69355055	20	7692											
PIWIL4	143689	bcgsc.ca	37	chr11	94322352	94322353	+	Missense_Mutation	DNP	AG	AG	TA																															gaagcccacacacacctttcAgaagcgggatggcaccgaga																								rs11020846|rs11020845|rs386756343	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr11:94322352_94322353AG>TA	ENST00000299001.6	+	8	1191_1192	c.980_981AG>TA	c.(979-981)cAG>cTA	p.Q327L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	327	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.		Q -> L (in dbSNP:rs11020845). {ECO:0000269|PubMed:14702039}.		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)				CACACCTTTCAGAAGCGGGATG	0.396																																					p.Q327L													.	PIWIL4	70		0			c.G981A																																									SO:0001583	missense	143689	exon8			CCTTTCAGAAGCG	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		Exception_encountered	11.37:g.94322352_94322353delinsTA	ENSP00000299001:p.Gln327Leu		88	0	0		47	0.11	5	NM_152431	15	0	0	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	DNP	ENST00000299001.6	37	CCDS31656.1																																																																																					0.396	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396388.1		NM_152431		TA	94322353	AG	TA	94322352	3	4	102	1	0	0	0	0	1	0	0	0	11977	188	7	5	1010	5	PIWIL4	11	94322352	Missense_Mutation	DNP	AG	TCGA-W4-A7U2-01A-11D-A435-10	28670891	94322352	40684164	21	7693											
SLC6A13	6540	ucsc.edu	37	chr12	351879	351879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacaatgatgtagtagaCgttgaggaggatgacgatca	15	8	12	6	2	1	4	1	3	0	1	1	7	1	6	0	2	1	3	0	2	4	3			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr12:351879C>A	ENST00000343164.4	-	4	431	c.379G>T	c.(379-381)Gtc>Ttc	p.V127F	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	127					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGTAGTAGACGTTGAGGAGG	0.582																																					p.V127F													SLC6A13,caecum,carcinoma,0,2	SLC6A13	62	2	0			c.G379T												118	80	93					12																	351879		2203	4300	6503	SO:0001583	missense	6540	exon4			AGTAGACGTTGAG	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.379G>T	12.37:g.351879C>A	ENSP00000339260:p.Val127Phe		98	0.0204081633	2		159	0.14	22	NM_016615	0		0	B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486750	0.44249	.	.	ENSG00000010379	ENST00000313154;ENST00000343164	T	0.75154	-0.91	5.61	-6.23	0.02052	.	0.723628	0.13885	N	0.356028	T	0.52403	0.1732	N	0.17082	0.46	0.80722	D	1	B;B	0.16396	0.017;0.005	B;B	0.33890	0.172;0.11	T	0.31110	-0.9955	10	0.10902	T	0.67	.	8.4922	0.33106	0.5385:0.3283:0.0:0.1332	.	106;127	B4DJS3;Q9NSD5	.;S6A13_HUMAN	F	106;127	ENSP00000339260:V127F	ENSP00000318097:V106F	V	-	1	0	SLC6A13	222140	0.507000	0.26146	0.809000	0.32408	0.981000	0.71138	-0.104000	0.10923	-1.613000	0.01577	-0.397000	0.06425	GTC			0.582	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397801.1		NM_016615		A	351879	C	A	351879	3	1	102	1	0	0	0	0	1	0	0	0	14699	536	19	1	1477	1	SLC6A13	12	351879	Missense_Mutation	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10		351879	133500016	22	7694											
PEX5	5830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	7354887	7354887	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggtgtccctggagtcCggtgcagggtcgggccgagc	4	6	20	11	3	0	0	0	0	0	0	3	2	2	1	3	6	2	2	3	6	0	0	rs140332077		TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr12:7354887C>T	ENST00000455147.2	+	9	1273	c.693C>T	c.(691-693)tcC>tcT	p.S231S	PEX5_ENST00000266563.5_Intron|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000266564.3_Silent_p.S231S|PEX5_ENST00000412720.2_Silent_p.S252S|PEX5_ENST00000434354.2_Silent_p.S246S|PEX5_ENST00000420616.2_Silent_p.S231S	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	231					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						CCCTGGAGTCCGGTGCAGGGT	0.582													C|||	1	0.000199681	0	0	5008	,	,		-128	0.001		0	False		,,,				2504	0				p.S246S													.	.			0			c.C738T							C	,,,,	1,4405	2.1+/-5.4	0,1,2202	103	94	97		693,738,,693,693	2.8	1	12	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	PEX5	NM_000319.4,NM_001131023.1,NM_001131024.1,NM_001131025.1,NM_001131026.1	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	231/632,246/655,,231/640,231/640	7354887	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5830	exon8			GGAGTCCGGTGCA	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.693C>T	12.37:g.7354887C>T			122	0	0		218	0.15	33	NM_001131023	311	0.06	18	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	CCDS44823.1																																																																																			0		0.582	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398611.1		NM_000319		T	7354887	C	T	7354887	2	4	102	1	0	0	0	0	0	0	0	1	11765	639	23	1		1	PEX5	12	7354887	Silent	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10	7003008	7354887	126497008	23	7695											
TAS2R19	259294	ucsc.edu	37	chr12	11174765	11174765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaatcagaaataccaaggGccccaacagtatcaccagaa	19	4	6	12	0	2	2	2	0	0	2	2	2	2	2	4	1	2	1	4	1	7	2	rs199722277		TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr12:11174765G>A	ENST00000390673.2	-	1	454	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	136					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)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AATACCAAGGGCCCCAACAGT	0.383																																					p.P136S													.	TAS2R19	30		0			c.C406T												96	90	92					12																	11174765		2203	4300	6503	SO:0001583	missense	259294	exon1			CCAAGGGCCCCAA	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.406C>T	12.37:g.11174765G>A	ENSP00000375091:p.Pro136Ser		99	0	0		169	0.01	1	NM_176888	30	0.43	13	Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.337760	0.00224	.	.	ENSG00000212124	ENST00000390673	T	0.29142	1.58	2.55	-5.1	0.02911	.	2.965530	0.03799	N	0.264155	T	0.10680	0.0261	N	0.02213	-0.635	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.29971	-0.9994	10	0.06494	T	0.89	.	8.043	0.30532	0.7191:0.0:0.1253:0.1556	.	136	P59542	T2R19_HUMAN	S	136	ENSP00000375091:P136S	ENSP00000375091:P136S	P	-	1	0	TAS2R19	11066032	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.751000	0.00792	-2.924000	0.00303	-1.111000	0.02071	CCC			0.383	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370080.1		NM_176888		A	11174765	G	A	11174765	3	1	102	1	0	0	0	0	1	0	0	0	15593	1203	42	2	496	2	TAS2R19	12	11174765	Missense_Mutation	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10	3819878	11174765	122677130	24	7696											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacctgtcttgtctttgCtgatgtttcaataaaaggaa	11	16	7	7	0	3	1	1	1	2	0	3	2	3	2	1	1	2	2	1	1	5	5	rs121913527		TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr12:25378562C>T	ENST00000256078.4	-	4	499	c.436G>A	c.(436-438)Gca>Aca	p.A146T	KRAS_ENST00000311936.3_Missense_Mutation_p.A146T|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	146			A -> T (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.A146T(75)|p.A146P(7)	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)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.A146T	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,+1,137	KRAS_ENST00000256078	1	137	82	Substitution - Missense(82)	large_intestine(69)|haematopoietic_and_lymphoid_tissue(11)|lung(2)	c.G436A												207	188	195					12																	25378562		2203	4300	6503	SO:0001583	missense	3845	exon4	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	TCTTTGCTGATGT	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.436G>A	12.37:g.25378562C>T	ENSP00000256078:p.Ala146Thr		74	0.0135135135	1		134	0.19	26	NM_004985	262	0.19	49	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234460	0.95207	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.96639	0.8903	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.76071	0.987;0.876	D	0.97524	1.0075	10	0.72032	D	0.01	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	T	146	ENSP00000308495:A146T;ENSP00000256078:A146T	ENSP00000256078:A146T	A	-	1	0	KRAS	25269829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.757000	0.94681	0.585000	0.79938	GCA			0.323	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360		T	25378562	C	T	25378562	3	4	102	1	0	0	0	0	1	0	0	0	8453	797	28	2	262	2	KRAS	12	25378562	Missense_Mutation	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10	14203797	25378562	108473333	25	7697											
SLC5A8	160728	hgsc.bcm.edu	37	chr12	101603313	101603313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagtttgtagaacaccGggaggaagacctccgcgctg	9	8	12	12	3	0	2	0	0	0	2	2	4	2	4	4	2	1	3	4	2	3	3			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr12:101603313G>T	ENST00000536262.2	-	1	872	c.314C>A	c.(313-315)cCg>cAg	p.P105Q		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAGAACACCGGGAGGAAGAC	0.592																																					p.P105Q	GBM(60;420 1056 13605 22380 47675)												SLC5A8,colon,carcinoma,0,1	SLC5A8	0	1	0			c.C314A												43	38	39					12																	101603313		2203	4300	6503	SO:0001583	missense	160728	exon1			AACACCGGGAGGA	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.314C>A	12.37:g.101603313G>T	ENSP00000445340:p.Pro105Gln		79	0.0126582278	1		95	0.05	5	NM_145913	0		0		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593895	0.86953	.	.	ENSG00000256870	ENST00000536262	D	0.88354	-2.37	5.49	5.49	0.81192	.	0.047393	0.85682	D	0.000000	D	0.96445	0.8840	H	0.95470	3.675	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97350	0.9963	10	0.87932	D	0	.	19.4145	0.94689	0.0:0.0:1.0:0.0	.	105	Q8N695	SC5A8_HUMAN	Q	105	ENSP00000445340:P105Q	ENSP00000445340:P105Q	P	-	2	0	SLC5A8	100127444	1.000000	0.71417	0.451000	0.26982	0.820000	0.46376	9.869000	0.99810	2.600000	0.87896	0.485000	0.47835	CCG			0.592	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000409401.1		NM_145913		T	101603313	G	T	101603313	3	4	102	1	0	0	0	0	1	0	0	0	14694	1116	39	1	1578	1	SLC5A8	12	101603313	Missense_Mutation	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10	76224751	101603313	32248582	26	7698											
MYO16	23026	broad.mit.edu	37	chr13	109793111	109793111	+	Frame_Shift_Del	DEL	C	C	-																															cggccgcccctgctggtgttCcccccgacccccgtcacctg																										TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr13:109793111delC	ENST00000357550.2	+	31	4526	c.4485delC	c.(4483-4485)ttcfs	p.F1495fs	MYO16_ENST00000356711.2_Frame_Shift_Del_p.F1495fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCTGGTGTTCCCCCCGACCC	0.736																																					p.F1517fs													.	MYO16	285		0			c.4551delC												5	7	6					13																	109793111		2044	4076	6120	SO:0001589	frameshift_variant	23026	exon32			GGTGTTCCCCCCG		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4485delC	13.37:g.109793111delC	ENSP00000350160:p.Phe1495fs		101	0	0		2242	0.01	13	NM_001198950	7	0	0		Frame_Shift_Del	DEL	ENST00000357550.2	37	CCDS32008.1																																																																																					0.736	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045746.1		NM_015011		-	109793111	C	-	109793111	7	5	102	1	0	1	0	1	0	0	0	0	10080	854	30	0	4607	0	MYO16	13	109793111	Frame_Shift_Del	DEL	C	TCGA-W4-A7U2-01A-11D-A435-10		109793111	5376767	27	7699											
POTEG	404785	bcgsc.ca;mdanderson.org	37	chr14	19566036	19566036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagttactttctgactaCaaagaaaaacagatgctaaa	17	10	6	8	0	1	3	0	1	1	2	1	3	1	3	1	0	5	2	1	0	7	4	rs77791636		TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr14:19566036C>T	ENST00000409832.3	+	6	1132	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	360										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCTGACTACAAAGAAAAAC	0.289																																					p.Y360Y													.	POTEG	118		0			c.C1080T												69	81	77					14																	19566036		1508	2691	4199	SO:0001819	synonymous_variant	404785	exon6			TGACTACAAAGAA		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1080C>T	14.37:g.19566036C>T			360	0	0		227	0.1	23	NM_001005356	0		0	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	CCDS32018.1																																																																																					0.289	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408579.1		NM_001005356		T	19566036	C	T	19566036	2	4	102	1	0	0	0	0	0	0	0	1	12283	489	17	3		3	POTEG	14	19566036	Silent	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10		19566036	87783504	28	7700											
C14orf184	0	broad.mit.edu	37	chr14	92040590	92040590	+	Frame_Shift_Del	DEL	C	C	-																															gacggaccactcgggcgcctCcgccccgcgccctgcctcgg																								rs34650717	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr14:92040590delC	ENST00000596306.1	-	1	793	c.367delG	c.(367-369)gagfs	p.E123fs																								Tcgggcgcctccgccccgcgc	0.736													CC|CC|C|deletion	2499	0.499002	0.4493	0.621	5008	,	,		12978	0.5179		0.4881	False		,,,				2504	0.4714				.													.	.			0			.									991,1125		318,355,385	3	4	3			0.5	0	14	dbSNP_126	5	2231,2317		695,841,738	no	intergenic				1013,1196,1123	A1A1,A1R,RR		49.0545,46.8336,48.3493			92040590	3222,3442	890	1912	2802	SO:0001589	frameshift_variant	0	.			GCGCCTCCGCCCC																												ENST00000596306.1:c.367delG	14.37:g.92040590delC	ENSP00000472226:p.Glu123fs		57	0	0		40	0.18	7	.	0		0		Frame_Shift_Del	DEL	ENST00000596306.1	37																																																																																						0.736	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding						-	92040590	C	-	92040590	7	5	102	1	0	1	0	1	0	0	0	0	1769	864	30	0	83	0	C14orf184	14	92040590	Frame_Shift_Del	DEL	C	TCGA-W4-A7U2-01A-11D-A435-10	72474554	92040590	15308950	29	7701											
C15orf55	256646	hgsc.bcm.edu	37	chr15	34640735	34640735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggtcctgtggccacTctatccaagccttccctagg	8	9	11	13	0	1	0	0	0	1	0	4	2	4	1	5	4	1	0	5	4	4	3			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr15:34640735T>C	ENST00000333756.4	+	2	737	c.582T>C	c.(580-582)acT>acC	p.T194T	NUTM1_ENST00000438749.3_Silent_p.T212T|NUTM1_ENST00000537011.1_Silent_p.T222T	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	194						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTGTGGCCACTCTATCCAAGC	0.577																																					p.T194T													.	.			0			c.T582C												38	39	38					15																	34640735		2201	4298	6499	SO:0001819	synonymous_variant	256646	exon2			GGCCACTCTATCC	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.582T>C	15.37:g.34640735T>C			72	0	0		64	0.06	4	NM_175741	15	0	0	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	CCDS32190.1																																																																																					0.577	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418026.1		NM_175741		C	34640735	T	C	34640735	2	2	102	1	0	0	0	0	0	0	0	1	1805	1538	54	4		4	C15orf55	15	34640735	Silent	SNP	T	TCGA-W4-A7U2-01A-11D-A435-10		34640735	67890657	30	7702											
CCDC33	80125	ucsc.edu;bcgsc.ca	37	chr15	74623054	74623054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggatatgaagaaactgAgggacagggtgcagcatttg	13	8	15	5	0	0	3	0	2	0	1	0	5	0	5	0	3	4	3	0	3	3	2			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr15:74623054A>G	ENST00000398814.3	+	13	1938	c.1507A>G	c.(1507-1509)Agg>Ggg	p.R503G	CCDC33_ENST00000321288.5_Missense_Mutation_p.R706G|CCDC33_ENST00000268082.4_Missense_Mutation_p.R96G|CCDC33_ENST00000558821.1_Missense_Mutation_p.R96G	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	706										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAAGAAACTGAGGGACAGGGT	0.582																																					p.R503G													.	CCDC33	160		0			c.A1507G												82	83	83					15																	74623054		1992	4174	6166	SO:0001583	missense	80125	exon13			AAACTGAGGGACA	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1507A>G	15.37:g.74623054A>G	ENSP00000381795:p.Arg503Gly		28	0	0		33	0.12	4	NM_025055	0		0	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.418805	0.62622	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.36340	1.26;1.64;1.37;1.37	4.28	0.208	0.15221	.	0.340466	0.28927	N	0.013689	T	0.51500	0.1678	M	0.76838	2.35	0.25139	N	0.990519	D;D;D;D	0.71674	0.975;0.99;0.979;0.998	P;P;P;D	0.66084	0.736;0.795;0.628;0.941	T	0.43637	-0.9379	10	0.87932	D	0	.	6.3479	0.21359	0.54:0.3152:0.0:0.1448	.	96;96;706;503	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	G	706;503;96;96	ENSP00000325012:R706G;ENSP00000381795:R503G;ENSP00000325661:R96G;ENSP00000268082:R96G	ENSP00000268082:R96G	R	+	1	2	CCDC33	72410107	1.000000	0.71417	0.988000	0.46212	0.874000	0.50279	1.079000	0.30766	-0.251000	0.09542	0.372000	0.22366	AGG			0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000419491.2		NM_182791		G	74623054	A	G	74623054	3	3	102	1	0	0	0	0	1	0	0	0	2808	295	11	4	1630	4	CCDC33	15	74623054	Missense_Mutation	SNP	A	TCGA-W4-A7U2-01A-11D-A435-10	39982319	74623054	27908338	31	7703											
ITPRIPL2	162073	ucsc.edu	37	chr16	19126254	19126254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccttccgcggagacttcatCcaggtgggcagcgcctacga	7	7	13	14	4	1	1	1	0	0	1	3	3	3	1	4	3	2	1	4	3	1	3			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr16:19126254C>T	ENST00000381440.3	+	1	1001	c.471C>T	c.(469-471)atC>atT	p.I157I	CTD-2349B8.1_ENST00000564808.2_3'UTR	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	157						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGACTTCATCCAGGTGGGCA	0.711																																					p.I157I													.	ITPRIPL2	40		0			c.C471T												11	13	12					16																	19126254		2139	4190	6329	SO:0001819	synonymous_variant	162073	exon1			CTTCATCCAGGTG		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.471C>T	16.37:g.19126254C>T			39	0	0		25	0.12	3	NM_001034841	29	0.17	5		Silent	SNP	ENST00000381440.3	37	CCDS32395.1																																																																																					0.711	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435827.3		NM_001034841		T	19126254	C	T	19126254	2	4	102	1	0	0	0	0	0	0	0	1	7940	845	30	3		3	ITPRIPL2	16	19126254	Silent	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10		19126254	71228499	32	7704											
RAP1GAP2	23108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	2921439	2921439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggcatccctggcagcCtcagcgggggcatctcccac	5	6	15	15	1	2	0	1	0	1	0	4	0	3	0	3	5	2	3	3	5	0	0			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr17:2921439C>T	ENST00000254695.8	+	18	1669	c.1579C>T	c.(1579-1581)Ctc>Ttc	p.L527F	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.L527F|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.L512F|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.L508F	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	527					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCTGGCAGCCTCAGCGGGGG	0.667																																					p.L527F													.	.			0			c.C1579T												16	19	18					17																	2921439		2088	4221	6309	SO:0001583	missense	23108	exon18			GGCAGCCTCAGCG	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1579C>T	17.37:g.2921439C>T	ENSP00000254695:p.Leu527Phe		106	0	0		79	0.2	16	NM_015085	47	0.57	27	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788730	0.31685	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	4.66	4.66	0.58398	.	0.182769	0.49305	D	0.000149	D	0.92067	0.7486	M	0.70595	2.14	0.53688	D	0.999973	D;P	0.58268	0.982;0.947	P;P	0.61201	0.885;0.692	D	0.89528	0.3783	10	0.09338	T	0.73	-15.8435	16.9017	0.86115	0.0:1.0:0.0:0.0	.	512;527	Q684P5-2;Q684P5	.;RPGP2_HUMAN	F	527;512;508;527	ENSP00000254695:L527F;ENSP00000389824:L512F;ENSP00000439688:L508F;ENSP00000444890:L527F	ENSP00000254695:L527F	L	+	1	0	RAP1GAP2	2868189	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	4.556000	0.60775	2.320000	0.78422	0.462000	0.41574	CTC			0.667	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438208.2				T	2921439	C	T	2921439	3	4	102	1	0	0	0	0	1	0	0	0	13061	681	24	3	1649	3	RAP1GAP2	17	2921439	Missense_Mutation	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10		2921439	78273771	33	7705											
FLII	2314	bcgsc.ca	37	chr17	18151320	18151320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtagttgatctgtggcaGctccaggtagcccaagccca	8	10	11	12	0	1	1	0	1	1	0	2	1	2	1	3	2	3	5	3	2	3	4			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr17:18151320G>T	ENST00000327031.4	-	19	2443	c.2218C>A	c.(2218-2220)Ctg>Atg	p.L740M	FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.L654M|FLII_ENST00000579294.1_Missense_Mutation_p.L729M|FLII_ENST00000545457.2_Missense_Mutation_p.L685M	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	740	Interaction with ACTL6A.				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)					ATCTGTGGCAGCTCCAGGTAG	0.597											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L740M													.	FLII	79		0			c.C2218A												87	85	86					17																	18151320		2203	4300	6503	SO:0001583	missense	2314	exon19			GTGGCAGCTCCAG	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.2218C>A	17.37:g.18151320G>T	ENSP00000324573:p.Leu740Met		69	0	0	723	53	0.09	5	NM_002018	202	0	0	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530774	0.64860	.	.	ENSG00000177731	ENST00000327031;ENST00000379450	T;T	0.14893	2.47;2.47	5.12	5.12	0.69794	.	0.075920	0.56097	D	0.000034	T	0.36082	0.0954	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.97110	0.997;0.997;1.0;0.996	T	0.08576	-1.0715	10	0.87932	D	0	-13.0092	9.3562	0.38168	0.1596:0.0:0.8404:0.0	.	654;654;740;709	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	M	740;654	ENSP00000324573:L740M;ENSP00000368763:L654M	ENSP00000324573:L740M	L	-	1	2	FLII	18092045	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	5.421000	0.66447	2.385000	0.81259	0.561000	0.74099	CTG			0.597	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132032.2		NM_002018		T	18151320	G	T	18151320	3	4	102	1	0	0	0	0	1	0	0	0	5938	962	34	2	1639	2	FLII	17	18151320	Missense_Mutation	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10	15229881	18151320	63043890	34	7706											
SMCHD1	23347	ucsc.edu	37	chr18	2666989	2666989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacacactggttaaaagtgGcatgtatgaatattatgcca	14	12	9	6	0	0	2	0	2	0	0	0	2	0	2	1	2	1	3	1	2	6	4			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr18:2666989G>T	ENST00000320876.6	+	3	721	c.383G>T	c.(382-384)gGc>gTc	p.G128V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.G128V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	128					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						GTTAAAAGTGGCATGTATGAA	0.378																																					p.G128V													.	SMCHD1	88		0			c.G383T												86	76	79					18																	2666989		1892	4124	6016	SO:0001583	missense	23347	exon3			AAAGTGGCATGTA	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.383G>T	18.37:g.2666989G>T	ENSP00000326603:p.Gly128Val		124	0	0		95	0.02	2	NM_015295	68	0.12	8	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882461	0.91740	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.73152	-0.72;-0.68	5.56	5.56	0.83823	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81052	-0.1107	10	0.87932	D	0	.	19.8772	0.96880	0.0:0.0:1.0:0.0	.	128	A6NHR9	SMHD1_HUMAN	V	128	ENSP00000326603:G128V;ENSP00000261598:G128V	ENSP00000261598:G128V	G	+	2	0	SMCHD1	2656989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.406000	0.97321	2.774000	0.95407	0.585000	0.79938	GGC			0.378	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441082.2	rescued with RNA-seq			T	2666989	G	T	2666989	3	4	102	1	0	0	0	0	1	0	0	0	14811	1203	42	2	393	2	SMCHD1	18	2666989	Missense_Mutation	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10		2666989	75410259	35	7707											
SMCHD1	23347	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	2688481	2688483	+	In_Frame_Del	DEL	TCT	TCT	-																															tgttgggggcaagcaagctgTcttctttgttggacaatcag																										TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	TCT	TCT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr18:2688481_2688483delTCT	ENST00000320876.6	+	6	1066_1068	c.728_730delTCT	c.(727-732)gtcttc>gtc	p.F245del	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_In_Frame_Del_p.F245del	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	245					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						AAGCAAGCTGTCTTCTTTGTTGG	0.35																																					p.243_243del													.	SMCHD1	88		0			c.727_729del																																									SO:0001651	inframe_deletion	23347	exon6			AAGCTGTCTTCTT	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.728_730delTCT	18.37:g.2688484_2688486delTCT	ENSP00000326603:p.Phe245del		116	0	0		89	0.11	10	NM_015295	104	0	0	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	In_Frame_Del	DEL	ENST00000320876.6	37	CCDS45822.1																																																																																					0.35	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441082.2				-	2688483	TCT	-	2688481	7	5	102	1	0	1	0	1	0	0	0	0	14811	1667	58	0	750	0	SMCHD1	18	2688481	In_Frame_Del	DEL	TCT	TCGA-W4-A7U2-01A-11D-A435-10	21492	2688481	75388767	36	7708											
KCNG2	26251	bcgsc.ca	37	chr18	77623903	77623903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagcccgtgcgccttccGcgccatcgtggcgcttttgc	2	9	12	18	7	0	0	0	0	0	0	2	0	1	0	5	1	3	2	5	1	0	3			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr18:77623903G>T	ENST00000316249.3	+	1	236	c.236G>T	c.(235-237)cGc>cTc	p.R79L		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	79					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)		TGCGCCTTCCGCGCCATCGTG	0.711																																					p.R79L													.	KCNG2	48		0			c.G236T												16	14	15					18																	77623903		2178	4276	6454	SO:0001583	missense	26251	exon1			CCTTCCGCGCCAT	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.236G>T	18.37:g.77623903G>T	ENSP00000315654:p.Arg79Leu		26	0	0		27	0.15	4	NM_012283	0		0		Missense_Mutation	SNP	ENST00000316249.3	37	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917547	0.33815	.	.	ENSG00000178342	ENST00000316249	T	0.77877	-1.13	3.77	2.6	0.31112	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.221994	0.33438	U	0.004908	T	0.80994	0.4731	M	0.76170	2.325	0.42468	D	0.992814	P	0.46512	0.879	P	0.50659	0.647	T	0.81597	-0.0860	10	0.39692	T	0.17	.	12.0661	0.53588	0.1056:0.0:0.8944:0.0	.	79	Q9UJ96	KCNG2_HUMAN	L	79	ENSP00000315654:R79L	ENSP00000315654:R79L	R	+	2	0	KCNG2	75724891	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.582000	0.74049	1.676000	0.50930	0.478000	0.44815	CGC			0.711	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103906.1		NM_012283		T	77623903	G	T	77623903	3	4	102	1	0	0	0	0	1	0	0	0	8043	1087	38	1	238	1	KCNG2	18	77623903	Missense_Mutation	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10	74935422	77623903	453345	37	7709											
RUVBL2	10856	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49502588	49502588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccagacagccacaaccAaagtcccggagatccgtgat	13	4	8	16	2	0	3	0	1	0	2	2	4	2	3	6	1	2	0	6	1	2	0			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr19:49502588A>G	ENST00000595090.1	+	2	489	c.25A>G	c.(25-27)Aaa>Gaa	p.K9E	RUVBL2_ENST00000601968.1_5'UTR|RUVBL2_ENST00000413176.2_5'UTR|RUVBL2_ENST00000598768.1_3'UTR	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	9					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGCCACAACCAAAGTCCCGGA	0.547																																					p.K9E													.	.			0			c.A25G												136	146	143					19																	49502588		2069	4198	6267	SO:0001583	missense	10856	exon2			ACAACCAAAGTCC	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.25A>G	19.37:g.49502588A>G	ENSP00000473172:p.Lys9Glu		206	0	0		204	0.17	34	NM_006666	384	0.35	133	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451196	0.43531	.	.	ENSG00000183207	ENST00000221413	T	0.49432	0.78	3.58	3.58	0.41010	.	0.000000	0.85682	U	0.000000	T	0.36853	0.0982	L	0.38649	1.16	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.13407	0.008;0.009	T	0.30851	-0.9964	10	0.52906	T	0.07	-26.3814	10.7768	0.46354	1.0:0.0:0.0:0.0	.	9;9	B4DW30;Q9Y230	.;RUVB2_HUMAN	E	9	ENSP00000221413:K9E	ENSP00000221413:K9E	K	+	1	0	RUVBL2	54194400	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.232000	0.78116	1.873000	0.54277	0.448000	0.29417	AAA			0.547	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466235.1				G	49502588	A	G	49502588	3	3	102	1	0	0	0	0	1	0	0	0	13776	131	5	4	31	4	RUVBL2	19	49502588	Missense_Mutation	SNP	A	TCGA-W4-A7U2-01A-11D-A435-10		49502588	9626395	38	7710											
TIAM1	7074	bcgsc.ca	37	chr21	32638549	32638550	+	Missense_Mutation	DNP	CC	CC	AT																															caaatttgctccccggccccCcgtttgctgtcactccagag																								rs2070418|rs386817934|rs2070417	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	CC	CC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr21:32638549_32638550CC>AT	ENST00000286827.3	-	5	1210_1211	c.739_740GG>AT	c.(739-741)GGg>ATg	p.G247M	TIAM1_ENST00000541036.1_Missense_Mutation_p.G247M|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	247			G -> R (in dbSNP:rs2070418).|G -> V (in dbSNP:rs2070417).	G -> M (in Ref. 1; AAA98443). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCCCGGCCCCCCGTTTGCTGTC	0.535																																					p.G247M													.	TIAM1	522		0			c.G739A																																									SO:0001583	missense	7074	exon5			GGCCCCCCGTTTG		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.739_740delinsAT	21.37:g.32638549_32638550delinsAT	ENSP00000286827:p.Gly247Met		170	0	0		193	0.05	9	NM_003253	152	0	0	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	DNP	ENST00000286827.3	37	CCDS13609.1																																																																																					0.535	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000192552.1		NM_003253		AT	32638550	CC	AT	32638549	3	1	102	1	0	0	0	0	1	0	0	0	15913	623	22	3	4135	3	TIAM1	21	32638549	Missense_Mutation	DNP	CC	TCGA-W4-A7U2-01A-11D-A435-10		32638549	15491346	39	7711											
ITSN1	6453	hgsc.bcm.edu;bcgsc.ca	37	chr21	35144472	35144491	+	Frame_Shift_Del	DEL	GCCCAGCTGGAGCGGGCGGA	GCCCAGCTGGAGCGGGCGGA	-																															gcaaggagcaggagcgcctgGcccagctggagcgggcggag																								rs375451100|rs200196886|rs544261869|rs148618330|rs143580796		TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	GCCCAGCTGGAGCGGGCGGA	GCCCAGCTGGAGCGGGCGGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr21:35144472_35144491delGCCCAGCTGGAGCGGGCGGA	ENST00000381318.3	+	12	1438_1457	c.1150_1169delGCCCAGCTGGAGCGGGCGGA	c.(1150-1170)gcccagctggagcgggcggagfs	p.AQLERAE384fs	ITSN1_ENST00000399352.1_Frame_Shift_Del_p.AQLERAE384fs|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.AQLERAE384fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.AQLERAE384fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.AQLERAE384fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.AQLERAE347fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.AQLERAE384fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.AQLERAE384fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.AQLERAE384fs|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.AQLERAE384fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.AQLERAE384fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.AQLERAE384fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	384	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAGCGCCTGGCCCAGCTGGAGCGGGCGGAGCAGGAGAGG	0.582																																					p.383_390del													.	ITSN1	166		0			c.1149_1168del																																									SO:0001589	frameshift_variant	6453	exon12			CGCCTGGCCCAGC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1150_1169delGCCCAGCTGGAGCGGGCGGA	21.37:g.35144472_35144491delGCCCAGCTGGAGCGGGCGGA	ENSP00000370719:p.Ala384fs		124	0	0		150	0.12	18	NM_001001132	62	0	0	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	ENST00000381318.3	37	CCDS33545.1																																																																																					0.582	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000140070.4		NM_003024		-	35144491	GCCCAGCTGGAGCGGGCGGA	-	35144472	7	5	102	1	0	1	0	1	0	0	0	0	7941	1203	42	0	1192	0	ITSN1	21	35144472	Frame_Shift_Del	DEL	GCCCAGCTGGAGCGGGCGGA	TCGA-W4-A7U2-01A-11D-A435-10	2505923	35144472	12985423	40	7712											
ITSN1	6453	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	35147283	35147283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcaagaatgataaaaaGcatcaactagaagggaaact	19	9	8	5	0	2	3	2	1	0	2	2	4	2	4	0	1	3	2	0	1	9	4			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr21:35147283G>C	ENST00000381318.3	+	14	1755	c.1467G>C	c.(1465-1467)aaG>aaC	p.K489N	ITSN1_ENST00000399352.1_Missense_Mutation_p.K489N|ITSN1_ENST00000399355.2_Missense_Mutation_p.K489N|ITSN1_ENST00000437442.2_Missense_Mutation_p.K489N|ITSN1_ENST00000381285.4_Missense_Mutation_p.K489N|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Missense_Mutation_p.K452N|ITSN1_ENST00000399338.4_Missense_Mutation_p.K489N|ITSN1_ENST00000399326.3_Missense_Mutation_p.K489N|ITSN1_ENST00000399349.1_Missense_Mutation_p.K489N|ITSN1_ENST00000399367.3_Missense_Mutation_p.K489N|ITSN1_ENST00000379960.5_Missense_Mutation_p.K489N|ITSN1_ENST00000381291.4_Missense_Mutation_p.K489N	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	489	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATGATAAAAAGCATCAACTAG	0.323																																					p.K489N													.	.			0			c.G1467C												72	74	73					21																	35147283		2203	4300	6503	SO:0001583	missense	6453	exon14			TAAAAAGCATCAA	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1467G>C	21.37:g.35147283G>C	ENSP00000370719:p.Lys489Asn		164	0	0		183	0.2	37	NM_001001132	46	0.11	5	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914926	0.52546	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.46451	1.54;0.87;0.93;0.87;1.54;1.54;0.92;1.54;1.54;1.54;1.54;0.92	5.07	1.75	0.24633	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	N	0.22421	0.69	0.45662	D	0.998585	D;D;B;D;D;P;D;D;D;D	0.89917	1.0;0.999;0.319;0.992;0.993;0.799;0.987;0.987;0.989;0.999	D;D;B;P;P;B;P;P;P;D	0.71656	0.974;0.962;0.149;0.776;0.805;0.343;0.776;0.776;0.885;0.962	T	0.27706	-1.0066	10	0.48119	T	0.1	.	8.9299	0.35663	0.3722:0.0:0.6278:0.0	.	452;452;452;489;489;489;489;489;489;452	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	N	452;489;489;489;489;489;489;489;489;489;489;489;489;489	ENSP00000382290:K452N;ENSP00000370719:K489N;ENSP00000370691:K489N;ENSP00000370685:K489N;ENSP00000382301:K489N;ENSP00000382289:K489N;ENSP00000382292:K489N;ENSP00000382286:K489N;ENSP00000382275:K489N;ENSP00000387377:K489N;ENSP00000382265:K489N;ENSP00000369294:K489N	ENSP00000369294:K489N	K	+	3	2	ITSN1	34069153	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.924000	0.28777	0.535000	0.28714	0.591000	0.81541	AAG			0.323	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000140070.4		NM_003024		C	35147283	G	C	35147283	3	2	102	1	0	0	0	0	1	0	0	0	7941	962	34	5	1517	5	ITSN1	21	35147283	Missense_Mutation	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10	2811	35147283	12982612	41	7713											
OR11H1	81061	bcgsc.ca;mdanderson.org	37	chr22	16449050	16449050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagacccacaggtagagaagGccttatgtctcccagtgctt	10	9	11	11	0	1	2	0	0	1	2	2	4	1	2	3	2	1	2	3	2	3	3	rs78350717	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr22:16449050G>A	ENST00000252835.4	-	1	755	c.755C>T	c.(754-756)gCc>gTc	p.A252V		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	252						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(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GGTAGAGAAGGCCTTATGTCT	0.438													G|||	1036	0.206869	0.0703	0.1931	5008	,	,		22319	0.25		0.3608	False		,,,				2504	0.1984				p.A252V													.	OR11H1	44		0			c.C755T							G	VAL/ALA	489,3913	225.9+/-241.6	32,425,1744	117	114	115		755	1.7	1	22	dbSNP_134	115	3111,5483	469.5+/-367.6	551,2009,1737	no	missense	OR11H1	NM_001005239.1	64	583,2434,3481	AA,AG,GG		36.1997,11.1086,27.7008	probably-damaging	252/327	16449050	3600,9396	2201	4297	6498	SO:0001583	missense	81061	exon1			GAGAAGGCCTTAT	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"GPCR / Class A : Olfactory receptors"	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.755C>T	22.37:g.16449050G>A	ENSP00000252835:p.Ala252Val		337	0	0		309	0.07	21	NM_001005239	0		0	Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.265663	0.40095	0.111086	0.361997	ENSG00000130538	ENST00000252835	T	0.00342	8.03	1.73	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000857	T	0.00012	0.0000	M	0.84433	2.695	0.48185	P	3.9999999999995595E-4	D	0.71674	0.998	D	0.71184	0.972	T	0.48990	-0.8985	9	0.62326	D	0.03	.	9.578	0.39470	0.0:0.0:1.0:0.0	.	252	Q8NG94	O11H1_HUMAN	V	252	ENSP00000252835:A252V	ENSP00000252835:A252V	A	-	2	0	OR11H1	14829050	0.963000	0.33076	0.985000	0.45067	0.717000	0.41224	1.891000	0.39738	0.917000	0.36895	0.368000	0.22195	GCC			0.438	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000074923.2		NM_001005239		A	16449050	G	A	16449050	3	1	102	1	0	0	0	0	1	0	0	0	10943	1203	42	2	227	2	OR11H1	22	16449050	Missense_Mutation	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10		16449050	34855516	42	7714											
CLDN5	7122	mdanderson.org	37	chr22	19511442	19511442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggccacacgcgccttggCcgggcccggggccacgcagg	5	2	18	16	5	0	0	0	0	0	0	0	1	0	0	5	6	0	1	5	6	0	1			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr22:19511442C>T	ENST00000406028.1	-	2	1652	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	CLDN5_ENST00000413119.2_Missense_Mutation_p.A198T|CLDN5_ENST00000403084.1_Missense_Mutation_p.A198T			O00501	CLD5_HUMAN	claudin 5	113					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CGCGCCTTGGCCGGGCCCGGG	0.716																																					p.A198T													.	.			0			c.G592A												8	9	9					22																	19511442		2158	4249	6407	SO:0001583	missense	7122	exon1			CCTTGGCCGGGCC	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"Claudins"	2047	protein-coding gene	gene with protein product		602101	"transmembrane protein deleted in velocardiofacial syndrome"	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.592G>A	22.37:g.19511442C>T	ENSP00000385477:p.Ala198Thr		24	0	0		30	0.17	5	NM_001130861	10	0	0	B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535573	0.27475	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.88664	-2.41;-2.41;-2.41	4.89	2.8	0.32819	.	0.785759	0.11798	N	0.528455	T	0.81049	0.4742	N	0.26092	0.79	0.09310	N	1	B	0.24186	0.099	B	0.25405	0.06	T	0.67432	-0.5672	10	0.34782	T	0.22	.	7.9783	0.30168	0.0:0.7166:0.0:0.2834	.	198	D3DX19	.	T	198	ENSP00000385477:A198T;ENSP00000384554:A198T;ENSP00000400612:A198T	ENSP00000384554:A198T	A	-	1	0	CLDN5	17891442	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	-0.338000	0.07842	0.488000	0.27723	0.462000	0.41574	GCC			0.716	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318122.3		NM_003277		T	19511442	C	T	19511442	3	4	102	1	0	0	0	0	1	0	0	0	3490	739	26	2	323	2	CLDN5	22	19511442	Missense_Mutation	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10	3062392	19511442	31793124	43	7715											
RIMBP3	85376	bcgsc.ca	37	chr22	20457060	20457060	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagctggcaccctctcttCacccccagagcttgtccttg	5	11	9	16	0	2	1	1	0	1	1	4	2	3	2	4	2	2	3	4	2	0	3	rs200551182		TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr22:20457060C>G	ENST00000426804.1	-	1	4726	c.4242G>C	c.(4240-4242)gtG>gtC	p.V1414V	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1414										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ACCCTCTCTTCACCCCCAGAG	0.637																																					p.V1414V													.	RIMBP3	42		0			c.G4242C																																									SO:0001819	synonymous_variant	85376	exon1			TCTCTTCACCCCC	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4242G>C	22.37:g.20457060C>G			239	0.0041841004	1		307	0.08	25	NM_015672	5	0	0	Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	ENST00000426804.1	37	CCDS46665.1																																																																																					0.637	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318945.2		NM_015672		G	20457060	C	G	20457060	2	3	102	1	0	0	0	0	0	0	0	1	13387	813	29	5		5	RIMBP3	22	20457060	Silent	SNP	C	TCGA-W4-A7U2-01A-11D-A435-10	945618	20457060	30847506	44	7716			1	14		3	3	782	N	T_G_C	7.015483e-07
RIMBP3	85376	bcgsc.ca;mdanderson.org	37	chr22	20457204	20457204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatactgttggctggcGcccagctggggaggtgtgaa	7	9	17	8	1	0	1	0	1	0	0	0	3	0	2	1	5	3	4	1	5	2	2	rs141165655		TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr22:20457204G>A	ENST00000426804.1	-	1	4582	c.4098C>T	c.(4096-4098)ggC>ggT	p.G1366G	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1366										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GTTGGCTGGCGCCCAGCTGGG	0.567																																					p.G1366G													.	RIMBP3	42		0			c.C4098T												4	4	4					22																	20457204		991	2754	3745	SO:0001819	synonymous_variant	85376	exon1			GCTGGCGCCCAGC	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4098C>T	22.37:g.20457204G>A			289	0.0034602076	1		375	0.06	23	NM_015672	5	0	0	Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	ENST00000426804.1	37	CCDS46665.1																																																																																					0.567	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318945.2		NM_015672		A	20457204	G	A	20457204	2	1	102	1	0	0	0	0	0	0	0	1	13387	1074	38	1		1	RIMBP3	22	20457204	Silent	SNP	G	TCGA-W4-A7U2-01A-11D-A435-10	144	20457204	30847362	45	7717			1	14		3	3	782	N	T_G_C	7.015483e-07
RIMBP3	85376	bcgsc.ca	37	chr22	20457841	20457841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccacgtgaggggcaccTgtagctgggagaattccaat	9	9	13	10	1	1	2	0	1	1	1	2	3	2	2	3	3	2	3	3	3	3	2	rs202034782	byFrequency	TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chr22:20457841T>C	ENST00000426804.1	-	1	3945	c.3461A>G	c.(3460-3462)cAg>cGg	p.Q1154R	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1154	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GAGGGGCACCTGTAGCTGGGA	0.557																																					p.Q1154R													.	RIMBP3	42		0			c.A3461G							T	ARG/GLN	4,4134		0,4,2065	81	84	83		3461	1	0	22		83	69,8347		0,69,4139	no	missense	RIMBP3	NM_015672.1	43	0,73,6204	CC,CT,TT		0.8199,0.0967,0.5815	benign	1154/1640	20457841	73,12481	2069	4208	6277	SO:0001583	missense	85376	exon1			GGCACCTGTAGCT	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3461A>G	22.37:g.20457841T>C	ENSP00000391564:p.Gln1154Arg		783	0	0		837	0.04	30	NM_015672	1	0	0	Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	T	5.252	0.231948	0.09969	9.67E-4	0.008199	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.33438	1.41	3.42	1.03	0.20045	Fibronectin, type III (2);	0.154983	0.44285	D	0.000478	T	0.14356	0.0347	L	0.33189	0.99	0.28898	N	0.893448	B	0.30686	0.29	B	0.28638	0.092	T	0.08932	-1.0698	10	0.52906	T	0.07	-13.6718	8.407	0.32621	0.0:0.0:0.3851:0.6149	.	1060	Q9UFD9	RIM3A_HUMAN	R	1060;1154	ENSP00000391564:Q1154R	ENSP00000347318:Q1060R	Q	-	2	0	RIMBP3	18837841	0.943000	0.32029	0.030000	0.17652	0.368000	0.29767	1.508000	0.35769	0.040000	0.15660	0.155000	0.16302	CAG			0.557	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318945.2		NM_015672		C	20457841	T	C	20457841	3	2	102	1	0	0	0	0	1	0	0	0	13387	1580	55	4	1462	4	RIMBP3	22	20457841	Missense_Mutation	SNP	T	TCGA-W4-A7U2-01A-11D-A435-10	637	20457841	30846725	46	7718			1	14		3	3	782	N	T_G_C	7.015483e-07
TAZ	6901	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	153648387	153648387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaatcgggcgcctgatTgctgagtgtcatctcaaccc	8	9	12	12	2	2	2	2	2	1	0	4	3	2	3	2	2	2	2	2	2	2	1			TCGA-W4-A7U2-01A-11D-A435-10	TCGA-W4-A7U2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88f98c12-9f30-4071-861b-f66445d6d122	90d0d153-4618-406d-b803-64cda8a4ba9a	g.chrX:153648387T>C	ENST00000350743.4	+	7	799	c.510T>C	c.(508-510)atT>atC	p.I170I	TAZ_ENST00000369790.4_Silent_p.I156I|TAZ_ENST00000369776.4_Silent_p.I131I|TAZ_ENST00000299328.5_Silent_p.I200I|TAZ_ENST00000351413.4_Silent_p.I186I|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000475699.1_Silent_p.I173I	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	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)					GGCGCCTGATTGCTGAGTGTC	0.637																																					p.I200I													.	.			0			c.T600C												108	99	102					X																	153648387		2203	4300	6503	SO:0001819	synonymous_variant	6901	exon8			CCTGATTGCTGAG	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"Barth syndrome"	300394	"endocardial fibroelastosis 2", "cardiomyopathy, dilated 3A (X-linked)"	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.510T>C	X.37:g.153648387T>C			149	0	0		223	0.1	22	NM_000116	38	0.08	3	D3DNH7|Q8N3P2|Q9Y3W6	Silent	SNP	ENST00000350743.4	37	CCDS14749.1																																																																																					0.637	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080939.1				C	153648387	T	C	153648387	2	2	102	1	0	0	0	0	0	0	0	1	15619	1800	63	4		4	TAZ	23	153648387	Silent	SNP	T	TCGA-W4-A7U2-01A-11D-A435-10		153648387	1622173	47	7719											
IGSF3	3321	ucsc.edu;bcgsc.ca	37	chr1	117142641	117142641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgttgtagttcttccGccacagctctgccacacact	6	13	9	13	1	2	0	0	0	2	0	3	0	3	0	3	1	2	5	3	1	1	5	rs76417519	byFrequency	TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr1:117142641G>A	ENST00000369486.3	-	7	2716	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	IGSF3_ENST00000369483.1_Missense_Mutation_p.R671W|IGSF3_ENST00000318837.6_Missense_Mutation_p.R671W	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	651	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TAGTTCTTCCGCCACAGCTCT	0.607																																					p.R671W													.	IGSF3	294		0			c.C2011T												75	56	63					1																	117142641		2203	4300	6503	SO:0001583	missense	3321	exon8			TCTTCCGCCACAG	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1951C>T	1.37:g.117142641G>A	ENSP00000358498:p.Arg651Trp		70	0.0428571429	3		83	0.12	10	NM_001542	49	0	0	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738507	0.69304	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03386	3.95;3.95;3.95	4.56	3.57	0.40892	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.06005	0.0156	L	0.43152	1.355	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.996	T	0.08848	-1.0702	10	0.66056	D	0.02	-40.6149	9.1987	0.37244	0.0:0.0:0.6762:0.3238	.	671;651;671	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	W	651;671;671	ENSP00000358498:R651W;ENSP00000358495:R671W;ENSP00000321184:R671W	ENSP00000321184:R671W	R	-	1	2	IGSF3	116944164	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.391000	0.34475	2.356000	0.79943	0.455000	0.32223	CGG			0.607	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000059040.1		NM_001542		A	117142641	G	A	117142641	3	1	103	1	0	0	0	0	1	0	0	0	7616	1086	38	1	1653	1	IGSF3	1	117142641	Missense_Mutation	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10		117142641	132107980	1	7720											
HRNR	388697	bcgsc.ca	37	chr1	152188062	152188062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaccatgttgcccatgggTagaggaatgacctgagctag	12	8	13	8	0	0	4	0	2	0	2	0	5	0	5	3	2	3	3	3	2	4	3	rs79940627	byFrequency	TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr1:152188062T>C	ENST00000368801.2	-	3	6118	c.6043A>G	c.(6043-6045)Acc>Gcc	p.T2015A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2015					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)			TGCCCATGGGTAGAGGAATGA	0.567																																					p.T2015A													.	HRNR	403		0			c.A6043G							T	ALA/THR	25,4297		0,25,2136	379	540	485		6043	-5.8	0	1	dbSNP_131	485	206,8166		0,206,3980	no	missense	HRNR	NM_001009931.1	58	0,231,6116	CC,CT,TT		2.4606,0.5784,1.8198	benign	2015/2851	152188062	231,12463	2161	4186	6347	SO:0001583	missense	388697	exon3			CATGGGTAGAGGA	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.6043A>G	1.37:g.152188062T>C	ENSP00000357791:p.Thr2015Ala		237	0.0084388186	2		227	0.05	11	NM_001009931	0		0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	T	6.886	0.532947	0.13188	0.005784	0.024606	ENSG00000197915	ENST00000368801	T	0.01629	4.72	3.9	-5.76	0.02376	.	.	.	.	.	T	0.00328	0.0010	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.12837	0.008	T	0.48293	-0.9048	9	0.05436	T	0.98	.	6.6385	0.22897	0.0:0.3528:0.414:0.2332	.	2015	Q86YZ3	HORN_HUMAN	A	2015	ENSP00000357791:T2015A	ENSP00000357791:T2015A	T	-	1	0	HRNR	150454686	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.431000	0.02432	-1.305000	0.02327	-0.573000	0.04149	ACC			0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034016.1		XM_373868		C	152188062	T	C	152188062	3	2	103	1	0	0	0	0	1	0	0	0	7374	1638	57	4	2513	4	HRNR	1	152188062	Missense_Mutation	SNP	T	TCGA-W4-A7U4-01A-12D-A435-10	35045421	152188062	97062559	2	7721											
C1orf58	148362	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr1	222903028	222903028	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagcaatcaggtctctcCaagaagcagaaaaatgtaag	17	7	10	7	0	2	3	1	1	1	2	4	3	3	3	1	1	2	3	1	1	7	1			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr1:222903028C>T	ENST00000340934.5	+	10	1229	c.823C>T	c.(823-825)Caa>Taa	p.Q275*	BROX_ENST00000537020.1_Nonsense_Mutation_p.Q275*|BROX_ENST00000539697.1_Nonsense_Mutation_p.Q243*	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	275	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						CAGGTCTCTCCAAGAAGCAGA	0.323																																					p.Q275X													.	.			0			c.C823T												81	85	84					1																	222903028		2203	4300	6503	SO:0001587	stop_gained	148362	exon10			TCTCTCCAAGAAG		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"BRO1 domain containing protein"		"chromosome 1 open reading frame 58"	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.823C>T	1.37:g.222903028C>T	ENSP00000343742:p.Gln275*		124	0	0		95	0.08	8	NM_144695	27	0.04	1	B7Z9G5|Q96MG1	Nonsense_Mutation	SNP	ENST00000340934.5	37	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	c	37	6.187790	0.97357	.	.	ENSG00000162819	ENST00000340934;ENST00000537020;ENST00000539697	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-12.8277	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	275;275;243	.	ENSP00000343742:Q275X	Q	+	1	0	BROX	220969651	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.100000	0.76989	2.941000	0.99782	0.655000	0.94253	CAA			0.323	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091815.2		NM_144695		T	222903028	C	T	222903028	4	4	103	1	0	0	0	0	0	1	0	0	2052	595	21	3	857	3	C1orf58	1	222903028	Nonsense_Mutation	SNP	C	TCGA-W4-A7U4-01A-12D-A435-10	70714966	222903028	26347593	3	7722											
TLR1	7096	broad.mit.edu	37	chr4	38798148	38798148	+	Frame_Shift_Del	DEL	A	A	-																															ggctgcccttaagttagcccAaaaaaggccacgtttgctct																										TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr4:38798148delA	ENST00000502213.2	-	3	2534	c.2305delT	c.(2305-2307)tggfs	p.W769fs	TLR1_ENST00000308979.2_Frame_Shift_Del_p.W769fs|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	769	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAGTTAGCCCAAAAAAGGCCA	0.418																																					p.W769fs	GBM(5;216 373 40795 46382)												.	TLR1	70		0			c.2305delT												85	80	82					4																	38798148		2203	4300	6503	SO:0001589	frameshift_variant	7096	exon4			TAGCCCAAAAAAG	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2305delT	4.37:g.38798148delA	ENSP00000421259:p.Trp769fs		178	0	0		164	0.04	7	NM_003263	10	0	0	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Frame_Shift_Del	DEL	ENST00000502213.2	37	CCDS33973.1																																																																																					0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360510.3				-	38798148	A	-	38798148	7	5	103	1	0	1	0	1	0	0	0	0	15972	130	5	0	59	0	TLR1	4	38798148	Frame_Shift_Del	DEL	A	TCGA-W4-A7U4-01A-12D-A435-10		38798148	152356128	4	7723											
ITPR3	3710	hgsc.bcm.edu;mdanderson.org	37	chr6	33638140	33638140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcatgtgcttggaccGccagtacttggccatcgacg	6	9	12	14	4	0	0	0	0	0	0	1	2	0	1	4	2	3	3	4	2	1	3			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr6:33638140G>T	ENST00000374316.5	+	20	3288	c.2228G>T	c.(2227-2229)cGc>cTc	p.R743L	ITPR3_ENST00000605930.1_Missense_Mutation_p.R743L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	743					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGCTTGGACCGCCAGTACTTG	0.627																																					p.R743L													.	.			0			c.G2228T												109	100	103					6																	33638140		2203	4300	6503	SO:0001583	missense	3710	exon19			TGGACCGCCAGTA	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2228G>T	6.37:g.33638140G>T	ENSP00000363435:p.Arg743Leu		89	0	0		60	0.07	4	NM_002224	58	0	0	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286877	0.95517	.	.	ENSG00000096433	ENST00000374316	D	0.96073	-3.9	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.97732	0.9256	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98753	1.0721	10	0.87932	D	0	-30.0789	17.8678	0.88801	0.0:0.0:1.0:0.0	.	743	Q14573	ITPR3_HUMAN	L	743	ENSP00000363435:R743L	ENSP00000363435:R743L	R	+	2	0	ITPR3	33746118	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.748000	0.98867	2.209000	0.71365	0.563000	0.77884	CGC			0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040204.2		NM_002224		T	33638140	G	T	33638140	3	4	103	1	0	0	0	0	1	0	0	0	7937	1087	38	1	2302	1	ITPR3	6	33638140	Missense_Mutation	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10		33638140	137476927	5	7724											
C6orf97	80129	mdanderson.org	37	chr6	151815308	151815308	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcgctgggtgccgcttcGccagcgcccgaggtacggtc	4	7	15	15	7	0	0	0	0	0	0	3	1	0	0	3	3	3	3	3	3	1	2			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr6:151815308G>A	ENST00000239374.7	+	1	144	c.45G>A	c.(43-45)tcG>tcA	p.S15S	CCDC170_ENST00000367290.5_Silent_p.S15S	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	15																	GTGCCGCTTCGCCAGCGCCCG	0.746																																					p.S15S													.	.			0			c.G45A												2	3	3					6																	151815308		1400	3244	4644	SO:0001819	synonymous_variant	80129	exon1			CGCTTCGCCAGCG	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.45G>A	6.37:g.151815308G>A			15	0	0		13	0.15	2	NM_025059	0		0	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	CCDS43515.1																																																																																					0.746	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000042727.2		NM_025059		A	151815308	G	A	151815308	2	1	103	1	0	0	0	0	0	0	0	1	2376	1074	38	1		1	C6orf97	6	151815308	Silent	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10	118177168	151815308	19299759	6	7725											
CDCA2	157313	ucsc.edu	37	chr8	25364715	25364715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggtcgaagtttacatttgGaaaaaaatggaaatcacaca	18	10	8	5	1	1	0	1	0	0	0	2	3	1	2	0	3	1	1	0	3	6	3			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr8:25364715G>A	ENST00000330560.3	+	15	3010	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.E830K	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	845					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)		TTTACATTTGGAAAAAAATGG	0.393																																					p.E845K													CDCA2,NS,carcinoma,0,3	CDCA2	78	3	0			c.G2533A												68	65	66					8																	25364715		2203	4300	6503	SO:0001583	missense	157313	exon15			CATTTGGAAAAAA	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.2533G>A	8.37:g.25364715G>A	ENSP00000328228:p.Glu845Lys		76	0	0		124	0.02	3	NM_152562	106	0.16	17	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307667	0.81247	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.44083	0.94;0.93	5.8	5.8	0.92144	.	0.722011	0.13275	N	0.400205	T	0.57725	0.2073	L	0.52573	1.65	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.59948	0.866;0.866	T	0.52510	-0.8566	10	0.56958	D	0.05	-3.8489	16.783	0.85567	0.0:0.0:1.0:0.0	.	830;845	E9PEI0;Q69YH5	.;CDCA2_HUMAN	K	845;830;244	ENSP00000328228:E845K;ENSP00000370040:E830K	ENSP00000328228:E845K	E	+	1	0	CDCA2	25420632	0.005000	0.15991	0.014000	0.15608	0.017000	0.09413	1.294000	0.33365	2.751000	0.94390	0.650000	0.86243	GAA			0.393	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216891.3	rescued with RNA-seq	NM_152562		A	25364715	G	A	25364715	3	1	103	1	0	0	0	0	1	0	0	0	3088	1175	41	3	2587	3	CDCA2	8	25364715	Missense_Mutation	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10		25364715	120999307	7	7726											
C10orf140	387640	mdanderson.org	37	chr10	21806050	21806050	+	Silent	SNP	A	A	G																															gcggcggcggcggcggcggcAgcagcggcggcggcggcggc																										TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr10:21806050A>G	ENST00000449193.2	-	4	2954	c.702T>C	c.(700-702)gcT>gcC	p.A234A	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Intron	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	234	Ala-rich.			Missing (in Ref. 2; BAD18601). {ECO:0000305}.		nucleus (GO:0005634)											cggcggcggcagcagcggcgg	0.761																																					p.A234A													.	.			0			c.T702C																																									SO:0001819	synonymous_variant	387640	exon4			GGCGGCAGCAGCG	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.702T>C	10.37:g.21806050A>G			19	0	0		19	0.42	8	NM_207371	0		0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.761	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		G	21806050	A	G	21806050	2	3	103	1	0	0	0	0	0	0	0	1	1597	175	7	4		4	C10orf140	10	21806050	Silent	SNP	A	TCGA-W4-A7U4-01A-12D-A435-10		21806050	113728697	8	7727	14	2									
C10orf140	387640	mdanderson.org	37	chr10	21806056	21806056	+	Silent	SNP	G	G	A																															gcggcggcggcggcagcagcGgcggcggcggcggcggcggc																										TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr10:21806056G>A	ENST00000449193.2	-	4	2948	c.696C>T	c.(694-696)gcC>gcT	p.A232A	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Intron	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	232	Ala-rich.			Missing (in Ref. 2; BAD18601). {ECO:0000305}.		nucleus (GO:0005634)											cggcagcagcggcggcggcgg	0.766																																					p.A232A													.	.			0			c.C696T												1	1	1					10																	21806056		64	241	305	SO:0001819	synonymous_variant	387640	exon4			AGCAGCGGCGGCG	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.696C>T	10.37:g.21806056G>A			20	0	0		25	0.48	12	NM_207371	0		0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.766	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		A	21806056	G	A	21806056	2	1	103	1	0	0	0	0	0	0	0	1	1597	1103	39	1		1	C10orf140	10	21806056	Silent	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10	6	21806056	113728691	9	7728	14	2									
MUC6	4588	bcgsc.ca	37	chr11	1017900	1017900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccatctgtgcatgggtaGgggtgatgactgtgtgagta	7	12	17	5	0	1	3	0	3	1	0	1	3	1	3	1	4	1	3	1	4	2	2	rs77920671	byFrequency	TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr11:1017900G>T	ENST00000421673.2	-	31	4951	c.4901C>A	c.(4900-4902)cCt>cAt	p.P1634H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1634	Approximate repeats.|Pro-rich.|Thr-rich.				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)		TGCATGGGTAGGGGTGATGAC	0.557																																					p.P1634H													.	MUC6	408		0			c.C4901A												542	517	525					11																	1017900		2199	4295	6494	SO:0001583	missense	4588	exon31			TGGGTAGGGGTGA	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.4901C>A	11.37:g.1017900G>T	ENSP00000406861:p.Pro1634His		286	0.013986014	4		184	0.05	9	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	8.763	0.924154	0.18056	.	.	ENSG00000184956	ENST00000421673	T	0.27256	1.68	2.39	1.37	0.22104	.	.	.	.	.	T	0.41903	0.1179	M	0.69358	2.11	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.18777	-1.0326	9	0.72032	D	0.01	.	3.2668	0.06868	0.1581:0.0:0.5815:0.2604	.	1634	Q6W4X9	MUC6_HUMAN	H	1634	ENSP00000406861:P1634H	ENSP00000406861:P1634H	P	-	2	0	MUC6	1007900	0.000000	0.05858	0.006000	0.13384	0.016000	0.09150	0.395000	0.20850	0.255000	0.21593	0.297000	0.19635	CCT			0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		T	1017900	G	T	1017900	3	4	103	1	0	0	0	0	1	0	0	0	9996	1000	35	3	2430	3	MUC6	11	1017900	Missense_Mutation	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10		1017900	133988616	10	7729											
OR52A4	390053	bcgsc.ca;mdanderson.org	37	chr11	5141902	5141902	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaccttatctctaatgtgTttggtctttaacccatagat	10	17	5	9	0	2	1	0	0	2	1	3	1	2	1	2	1	2	1	2	1	5	7	rs10837374|rs386750110	byFrequency	TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr11:5141902T>C	ENST00000498233.1	-	0	1014							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							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(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTCTAATGTGTTTGGTCTTTA	0.353													C|||	3760	0.750799	0.9175	0.7334	5008	,	,		18621	0.5675		0.7276	False		,,,				2504	0.7505				.													.	.			0			.							C		3920,482	224.3+/-240.5	1745,430,26	81	81	81			-1.5	0.8	11	dbSNP_120	81	6106,2490	407.3+/-349.1	2182,1742,374	no	intergenic				3927,2172,400	CC,CT,TT		28.967,10.9496,22.8651			5141902	10026,2972	2201	4298	6499			390053	.			AATGTGTTTGGTC			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5141902T>C			108	0	0		75	0.07	5	.	0		0		RNA	SNP	ENST00000498233.1	37		1603	0.7339743589743589	460	0.9349593495934959	265	0.7320441988950276	329	0.5751748251748252	549	0.7242744063324539	C	10.75	1.437222	0.25900	0.890504	0.71033	ENSG00000248953	ENST00000380369	.	.	.	3.94	-1.51	0.08664	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.20306	-1.0279	6	0.87932	D	0	.	6.5847	0.22614	0.1455:0.1996:0.0:0.6549	rs10837374	303	A6NMU1	O52A4_HUMAN	A	303	.	ENSP00000369727:T303A	T	-	1	0	OR52A4	5098478	0.000000	0.05858	0.799000	0.32177	0.705000	0.40729	-1.714000	0.01881	-0.351000	0.08249	-0.119000	0.15052	ACA			0.353	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000268565.1		NG_029079		C	5141902	T	C	5141902	1	2	103	0	1	0	0	0	0	0	0	0	11126	1725	60	4		4	OR52A4	11	5141902	RNA	SNP	T	TCGA-W4-A7U4-01A-12D-A435-10	4124002	5141902	129864614	11	7730											
MMP1	4312	mdanderson.org	37	chr11	102668807	102668807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacagcagcagcagcagtGgaggaaagctgtgcatactg	14	5	14	8	0	0	1	0	0	0	1	0	3	0	3	0	2	8	6	0	2	3	1			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr11:102668807G>T	ENST00000315274.6	-	1	84	c.17C>A	c.(16-18)cCa>cAa	p.P6Q	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	6					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CAGCAGCAGTGGAGGAAAGCT	0.517																																					p.P6Q													.	.			0			c.C17A												68	58	62					11																	102668807		2203	4299	6502	SO:0001583	missense	4312	exon1			AGCAGTGGAGGAA	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.17C>A	11.37:g.102668807G>T	ENSP00000322788:p.Pro6Gln		29	0	0		33	0.09	3	NM_002421	1	0	0	P08156	Missense_Mutation	SNP	ENST00000315274.6	37	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	G	4.015	0.000223	0.07819	.	.	ENSG00000196611	ENST00000315274	T	0.13657	2.57	0.235	0.235	0.15431	.	1.876360	0.02289	N	0.070092	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.29115	0.233	B	0.15484	0.013	T	0.27971	-1.0058	9	0.56958	D	0.05	.	.	.	.	.	6	P03956	MMP1_HUMAN	Q	6	ENSP00000322788:P6Q	ENSP00000322788:P6Q	P	-	2	0	MMP1	102174017	0.089000	0.21612	0.021000	0.16686	0.041000	0.13682	1.596000	0.36718	0.308000	0.22923	0.313000	0.20887	CCA			0.517	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109632.1		NM_002421		T	102668807	G	T	102668807	3	4	103	1	0	0	0	0	1	0	0	0	9664	1348	47	3	1432	3	MMP1	11	102668807	Missense_Mutation	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10	97526905	102668807	32337709	12	7731											
NACA	4666	bcgsc.ca	37	chr12	57110530	57110530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatgaggagctctttggggGatggggcccctttgtaagtg	7	11	17	6	0	1	1	0	1	1	0	1	4	1	3	2	5	1	2	2	5	2	3			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr12:57110530G>T	ENST00000454682.1	-	3	5065	c.4784C>A	c.(4783-4785)tCc>tAc	p.S1595Y	NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1595	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTCTTTGGGGGATGGGGCCCC	0.592			T	BCL6	NHL																																.				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA	131		0			.												20	21	20					12																	57110530		1567	3575	5142	SO:0001583	missense	4666	.			TTGGGGGATGGGG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4784C>A	12.37:g.57110530G>T	ENSP00000403817:p.Ser1595Tyr		89	0	0		98	0.06	6	.	1	0	0		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	G	3.870	-0.028161	0.07589	.	.	ENSG00000196531	ENST00000454682	T	0.49139	0.79	2.76	1.84	0.25277	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.09310	N	1	D	0.54964	0.969	B	0.41332	0.354	T	0.12451	-1.0547	7	.	.	.	.	5.1543	0.15027	0.1305:0.2118:0.6577:0.0	.	1595	E9PAV3	.	Y	1595	ENSP00000403817:S1595Y	.	S	-	2	0	NACA	55396797	0.655000	0.27376	0.015000	0.15790	0.045000	0.14185	0.209000	0.17435	0.264000	0.21851	0.430000	0.28490	TCC			0.592	NACA-201	KNOWN	basic	protein_coding	protein_coding				NM_005594		T	57110530	G	T	57110530	3	4	103	1	0	0	0	0	1	0	0	0	10149	1174	41	3	1480	3	NACA	12	57110530	Missense_Mutation	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10		57110530	76741365	13	7732											
ZNF276	92822	hgsc.bcm.edu	37	chr16	89793728	89793728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatcttcaacctcggatGatcgggtaaaagacgagttc	11	11	9	10	3	2	2	1	1	1	1	6	4	3	3	2	2	1	2	2	2	3	4			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr16:89793728G>T	ENST00000443381.2	+	5	1145	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y	ZNF276_ENST00000446326.2_Missense_Mutation_p.M146I|ZNF276_ENST00000568064.1_Missense_Mutation_p.M268I|ZNF276_ENST00000289816.5_Missense_Mutation_p.D275Y	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AACCTCGGATGATCGGGTAAA	0.473																																					p.D350Y													.	.			0			c.G1048T												184	165	171					16																	89793728		2198	4300	6498	SO:0001583	missense	92822	exon5			TCGGATGATCGGG	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1048G>T	16.37:g.89793728G>T	ENSP00000415836:p.Asp350Tyr		128	0	0		117	0.04	5	NM_001113525	20	0	0	Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	CCDS45554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.403579|4.403579	0.83230|0.83230	.|.	.|.	ENSG00000158805|ENSG00000158805	ENST00000289816;ENST00000443381|ENST00000446326	T;T|T	0.07216|0.05139	3.21;3.25|3.49	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.168593|.	0.49916|.	D|.	0.000125|.	T|T	0.17492|0.17492	0.0420|0.0420	L|L	0.32530|0.32530	0.975|0.975	0.30710|0.30710	N|N	0.749363|0.749363	D;D|D	0.89917|0.63880	0.998;1.0|0.993	D;D|D	0.67231|0.70227	0.945;0.95|0.968	T|T	0.00920|0.00920	-1.1514|-1.1514	10|9	0.56958|0.46703	D|T	0.05|0.11	-20.1344|-20.1344	18.4672|18.4672	0.90760|0.90760	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	188;350|146	B4DIT3;Q8N554|A8K186	.;ZN276_HUMAN|.	Y|I	275;350|146	ENSP00000289816:D275Y;ENSP00000415836:D350Y|ENSP00000415999:M146I	ENSP00000289816:D275Y|ENSP00000415999:M146I	D|M	+|+	1|3	0|0	ZNF276|ZNF276	88321229|88321229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.444000|6.444000	0.73452|0.73452	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	GAT|ATG			0.473	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422517.1		NM_152287		T	89793728	G	T	89793728	3	4	103	1	0	0	0	0	1	0	0	0	17834	1290	45	3	1066	3	ZNF276	16	89793728	Missense_Mutation	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10		89793728	561025	14	7733											
ATCAY	85300	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	3909500	3909500	+	Frame_Shift_Del	DEL	T	T	-																															gcaggtacgtcatcagcagcTtagagctcctggtggctgag																										TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr19:3909500delT	ENST00000450849.2	+	7	1131	c.664delT	c.(664-666)ttafs	p.L222fs	ATCAY_ENST00000301260.6_Frame_Shift_Del_p.L222fs|ATCAY_ENST00000398448.3_Frame_Shift_Del_p.L228fs|ATCAY_ENST00000600960.1_Frame_Shift_Del_p.L222fs	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	222	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.L222L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CATCAGCAGCTTAGAGCTCCT	0.632																																					p.S221fs													.	ATCAY	84		1	Substitution - coding silent(1)	breast(1)	c.663delC												59	62	61					19																	3909500		2114	4210	6324	SO:0001589	frameshift_variant	85300	exon7			AGCAGCTTAGAGC		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.664delT	19.37:g.3909500delT	ENSP00000390941:p.Leu222fs		81	0	0		54	0.3	16	NM_033064	8	0	0	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Frame_Shift_Del	DEL	ENST00000450849.2	37	CCDS45923.1																																																																																					0.632	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457872.2				-	3909500	T	-	3909500	7	5	103	1	0	1	0	1	0	0	0	0	1077	1606	56	0	686	0	ATCAY	19	3909500	Frame_Shift_Del	DEL	T	TCGA-W4-A7U4-01A-12D-A435-10		3909500	55219483	15	7734											
B3GNT8	593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	41932262	41932262	+	IGR	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacatcagtatctgagcagCtggagacttggctgccacca	10	8	12	11	0	2	2	1	1	1	1	2	4	2	3	2	3	3	4	2	3	1	2			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr19:41932262C>G	ENST00000269980.2	+	0	2103				CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'UTR|B3GNT8_ENST00000321702.2_Missense_Mutation_p.S141T	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ATCTGAGCAGCTGGAGACTTG	0.622																																					p.S141T													.	.			0			c.G422C												45	46	45					19																	41932262		2203	4300	6503	SO:0001628	intergenic_variant	374907	exon3			GAGCAGCTGGAGA	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932262C>G			113	0	0		68	0.34	23	NM_198540	3	0	0	B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	8.143	0.785755	0.16189	.	.	ENSG00000177191	ENST00000321702	T	0.35605	1.3	4.21	3.16	0.36331	.	1.351940	0.04817	N	0.436211	T	0.27419	0.0673	N	0.25647	0.755	0.23923	N	0.996454	B	0.27498	0.18	B	0.26969	0.075	T	0.24693	-1.0153	10	0.48119	T	0.1	.	5.4879	0.16759	0.1956:0.7008:0.0:0.1036	.	141	Q7Z7M8	B3GN8_HUMAN	T	141	ENSP00000312700:S141T	ENSP00000312700:S141T	S	-	2	0	B3GNT8	46624102	0.347000	0.24853	0.932000	0.37286	0.560000	0.35617	0.697000	0.25556	1.127000	0.42034	0.462000	0.41574	AGC			0.622	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398313.3		NM_000709		G	41932262	C	G	41932262	1	3	103	0	1	0	0	0	0	0	0	0	1263	797	28	5		5	B3GNT8	19	41932262	IGR	SNP	C	TCGA-W4-A7U4-01A-12D-A435-10	38022762	41932262	17196721	16	7735											
NECAB3	63941	mdanderson.org	37	chr20	32247749	32247749	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgacactcctcagggctcgGcgtcctgcccgccggctgcc	3	7	12	19	4	1	1	1	1	0	0	4	1	3	1	5	3	2	2	5	3	0	0			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr20:32247749G>T	ENST00000246190.6	-	7	640	c.585C>A	c.(583-585)cgC>cgA	p.R195R	C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Silent_p.R195R|RP1-63M2.6_ENST00000607224.1_RNA	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	195					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						TCAGGGCTCGGCGTCCTGCCC	0.706																																					p.R195R													.	.			0			c.C585A												5	8	7					20																	32247749		1915	4029	5944	SO:0001819	synonymous_variant	63941	exon7			GGCTCGGCGTCCT	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.585C>A	20.37:g.32247749G>T			31	0	0		36	0.08	3	NM_031231	41	0.02	1	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Silent	SNP	ENST00000246190.6	37	CCDS42866.1																																																																																					0.706	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000078724.2				T	32247749	G	T	32247749	2	4	103	1	0	0	0	0	0	0	0	1	10323	1190	42	2		2	NECAB3	20	32247749	Silent	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10		32247749	30777771	17	7736											
ELMO2	63916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45017782	45017782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcggcagagagcttggcCagctccttcatggcatccag	8	8	12	13	2	1	1	1	0	0	1	4	2	3	1	3	3	2	4	3	3	0	2			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr20:45017782C>T	ENST00000290246.6	-	7	515	c.321G>A	c.(319-321)ctG>ctA	p.L107L	ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000372176.1_Silent_p.L19L|ELMO2_ENST00000352077.2_Silent_p.L107L|ELMO2_ENST00000439931.2_Silent_p.L107L|ELMO2_ENST00000396391.1_Silent_p.L107L|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	107					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGAGCTTGGCCAGCTCCTTCA	0.557																																					p.L107L													.	.			0			c.G321A												136	106	116					20																	45017782		2203	4300	6503	SO:0001819	synonymous_variant	63916	exon6			CTTGGCCAGCTCC	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.321G>A	20.37:g.45017782C>T			64	0	0		94	0.2	19	NM_182764	35	0.23	8	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	CCDS13398.1																																																																																					0.557	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080466.1		NM_022086		T	45017782	C	T	45017782	2	4	103	1	0	0	0	0	0	0	0	1	5073	581	21	3		3	ELMO2	20	45017782	Silent	SNP	C	TCGA-W4-A7U4-01A-12D-A435-10	12770033	45017782	18007738	18	7737											
LIME1	54923	mdanderson.org	37	chr20	62369750	62369750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggtcagcctggcggccagCcctgtggtggccgagtatgc	4	7	18	12	2	1	0	1	0	0	0	1	1	1	0	4	6	3	1	4	6	1	1			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr20:62369750C>T	ENST00000309546.3	+	5	570	c.483C>T	c.(481-483)agC>agT	p.S161S	LIME1_ENST00000490824.1_3'UTR|RP4-583P15.15_ENST00000490623.2_3'UTR|RP4-583P15.14_ENST00000467211.1_Missense_Mutation_p.A43V|SLC2A4RG_ENST00000266077.2_5'Flank	NM_017806.2	NP_060276.2	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	161					B cell receptor signaling pathway (GO:0050853)|T cell receptor signaling pathway (GO:0050852)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGGCGGCCAGCCCTGTGGTGG	0.706																																					p.S161S													.	.			0			c.C483T												4	4	4					20																	62369750		1946	3942	5888	SO:0001819	synonymous_variant	54923	exon5			GGCCAGCCCTGTG	AK000413	CCDS13536.1	20q13.33	2010-05-11			ENSG00000203896	ENSG00000203896			26016	protein-coding gene	gene with protein product		609809				12477932	Standard	NM_017806		Approved	FLJ20406, dJ583P15.4, LIME	uc002ygp.4	Q9H400	OTTHUMG00000032999	ENST00000309546.3:c.483C>T	20.37:g.62369750C>T			25	0	0		26	0.12	3	NM_017806	44	0	0	E1P5K5|E1P5K6|Q5JWJ2|Q6XYB3|Q9NX69	Silent	SNP	ENST00000309546.3	37	CCDS13536.1																																																																																					0.706	LIME1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080225.1		NM_017806		T	62369750	C	T	62369750	2	4	103	1	0	0	0	0	0	0	0	1	8815	738	26	2		2	LIME1	20	62369750	Silent	SNP	C	TCGA-W4-A7U4-01A-12D-A435-10	17351968	62369750	655770	19	7738											
TCF20	6942	bcgsc.ca;mdanderson.org	37	chr22	42608414	42608414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgggttgctgctccaggGctggcattgccgcggtaaga	6	10	15	10	2	1	1	1	0	0	1	2	1	2	1	2	4	3	6	2	4	1	3			TCGA-W4-A7U4-01A-12D-A435-10	TCGA-W4-A7U4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	93e5db42-7b98-42ed-bb10-42cc65aa7f42	3a394593-a286-4619-ac57-928781488648	g.chr22:42608414G>T	ENST00000359486.3	-	1	3034	c.2898C>A	c.(2896-2898)agC>agA	p.S966R	TCF20_ENST00000335626.4_Missense_Mutation_p.S966R|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	966					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						CTGCTCCAGGGCTGGCATTGC	0.547																																					p.S966R													.	TCF20	164		0			c.C2898A												97	94	95					22																	42608414		2203	4300	6503	SO:0001583	missense	6942	exon1			TCCAGGGCTGGCA	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.2898C>A	22.37:g.42608414G>T	ENSP00000352463:p.Ser966Arg		147	0	0		125	0.06	7	NM_181492	41	0	0	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716340	0.48622	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.63580	-0.05;-0.05	5.77	-1.07	0.09968	.	0.059736	0.64402	D	0.000002	T	0.62270	0.2414	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.62632	-0.6813	10	0.72032	D	0.01	-10.5029	11.3661	0.49673	0.3877:0.0:0.6123:0.0	.	966;966	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	R	966	ENSP00000352463:S966R;ENSP00000335561:S966R	ENSP00000335561:S966R	S	-	3	2	TCF20	40938358	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	0.534000	0.23098	0.005000	0.14708	0.655000	0.94253	AGC			0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320531.1		NM_181492		T	42608414	G	T	42608414	3	4	103	1	0	0	0	0	1	0	0	0	15713	1194	42	2	3022	2	TCF20	22	42608414	Missense_Mutation	SNP	G	TCGA-W4-A7U4-01A-12D-A435-10		42608414	8696152	20	7739											
MTHFR	4524	mdanderson.org	37	chr1	11854012	11854012	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcccacgatggggtcGgaggacggcttcccgttgat	6	7	14	14	4	0	1	0	1	0	0	2	4	1	3	4	5	1	2	4	5	0	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:11854012G>T	ENST00000376592.1	-	8	1610	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	MTHFR_ENST00000376590.3_Silent_p.S494S|MTHFR_ENST00000376585.1_Silent_p.S535S|MTHFR_ENST00000376583.3_Silent_p.S535S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	494					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|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)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CGATGGGGTCGGAGGACGGCT	0.667																																					p.S494S													.	.			0			c.C1482A												72	78	76					1																	11854012		2203	4300	6503	SO:0001819	synonymous_variant	4524	exon9			GGGGTCGGAGGAC	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1482C>A	1.37:g.11854012G>T			46	0	0		34	0.09	3	NM_005957	21	0	0	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	CCDS137.1																																																																																					0.667	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000006538.1		NM_005957		T	11854012	G	T	11854012	2	4	104	1	0	0	0	0	0	0	0	1	9947	1103	39	1		1	MTHFR	1	11854012	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		11854012	237396609	1	7740											
TMEM53	79639	broad.mit.edu	37	chr1	45120704	45120704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagctccagcacgtagcGgtacagcatgacgccaccgt	10	5	12	14	4	0	1	0	1	0	0	1	2	1	2	3	2	5	5	3	2	2	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:45120704G>T	ENST00000372237.3	-	3	524	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	TMEM53_ENST00000372235.3_Missense_Mutation_p.R91S|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372242.3_Missense_Mutation_p.R121S|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	121						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)					AGCACGTAGCGGTACAGCATG	0.587											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R121S													.	TMEM53	40		0			c.C361A												57	58	58					1																	45120704		2203	4300	6503	SO:0001583	missense	79639	exon3			CGTAGCGGTACAG		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.361C>A	1.37:g.45120704G>T	ENSP00000361311:p.Arg121Ser		66	0	0	929	70	0.04	3	NM_024587	49	0	0	B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175596	0.94807	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76392	0.3981	M	0.62154	1.92	0.80722	D	1	D	0.58970	0.984	D	0.72338	0.977	T	0.70579	-0.4833	9	0.20519	T	0.43	.	19.2506	0.93923	0.0:0.0:1.0:0.0	.	121	Q6P2H8	TMM53_HUMAN	S	121;121;91;90	.	ENSP00000361309:R91S	R	-	1	0	TMEM53	44893291	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.571000	0.86741	0.563000	0.77884	CGC			0.587	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021599.1		NM_024587		T	45120704	G	T	45120704	3	4	104	1	0	0	0	0	1	0	0	0	16202	1116	39	1	476	1	TMEM53	1	45120704	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	33266692	45120704	204129917	2	7741											
KCNN3	3782	hgsc.bcm.edu	37	chr1	154842235	154842236	+	In_Frame_Ins	INS	-	-	GCTGCTGCTGCTGCT																															ctgctgctgctgctgctgctINSgctgctgaagctgcggaggc																										TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:154842235_154842236insGCTGCTGCTGCTGCT	ENST00000271915.4	-	1	520_521	c.205_206insAGCAGCAGCAGCAGC	c.(205-207)cag>cAGCAGCAGCAGCAGCag	p.69_69Q>QQQQQQ	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	69	Gln-rich.				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)	ctgctgctgctgctgctgaagc	0.703																																					p.Q69delinsQQQQQQ													.	KCNN3	141		0			c.206_207insAGCAGCAGCAGCAGC																																									SO:0001652	inframe_insertion	3782	exon1			TGCTGCTGCTGCT	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.191_205dupAGCAGCAGCAGCAGC	1.37:g.154842235_154842236insGCTGCTGCTGCTGCT	ENSP00000271915:p.GlnGlnGlnGlnGln79dup		66	0	0		70	0.2	14	NM_001204087	15	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	CCDS30880.1																																																																																					0.703	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090688.3		NM_002249		GCTGCTGCTGCTGCT	154842236	-	GCTGCTGCTGCTGCT	154842235	7	5	104	1	0	1	1	0	0	0	0	0	8095	1580	55	0	2043	0	KCNN3	1	154842235	In_Frame_Ins	INS	-	TCGA-WZ-A7V3-01A-11D-A435-10	109721531	154842235	94408386	3	7742											
PM20D1	148811	mdanderson.org	37	chr1	205814017	205814017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggagctccaaggcctgCagtaatgcctggggttcaga	10	7	14	10	0	1	1	1	0	0	1	2	2	2	2	3	4	4	5	3	4	2	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:205814017C>T	ENST00000367136.4	-	4	542	c.498G>A	c.(496-498)ctG>ctA	p.L166L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	166					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)			CCAAGGCCTGCAGTAATGCCT	0.488																																					p.L166L													.	.			0			c.G498A												82	78	79					1																	205814017		2203	4300	6503	SO:0001819	synonymous_variant	148811	exon4			GGCCTGCAGTAAT		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.498G>A	1.37:g.205814017C>T			37	0	0		35	0.09	3	NM_152491	0		0	Q6P4E3|Q96DM4	Silent	SNP	ENST00000367136.4	37	CCDS1460.1																																																																																					0.488	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087736.1		NM_152491		T	205814017	C	T	205814017	2	4	104	1	0	0	0	0	0	0	0	1	12145	697	25	2		2	PM20D1	1	205814017	Silent	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	50971782	205814017	43436604	4	7743											
OR13G1	441933	mdanderson.org	37	chr1	247835618	247835618	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaaagggtcaccactgtGagatgagatgagcatgttga	13	10	13	5	0	1	4	1	4	0	2	1	6	1	4	1	1	1	3	1	1	3	3			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:247835618G>T	ENST00000359688.2	-	1	747	c.726C>A	c.(724-726)ctC>ctA	p.L242L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			TCACCACTGTGAGATGAGATG	0.443																																					p.L242L													OR13G1,NS,malignant_melanoma,0,2	OR13G1	0	2	0			c.C726A												162	139	147					1																	247835618		2203	4300	6503	SO:0001819	synonymous_variant	441933	exon1			CACTGTGAGATGA	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.726C>A	1.37:g.247835618G>T			105	0	0		68	0.06	4	NM_001005487	0		0	B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	CCDS31094.1																																																																																					0.443	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096869.1		NM_001005487		T	247835618	G	T	247835618	2	4	104	1	0	0	0	0	0	0	0	1	10959	1277	45	3		3	OR13G1	1	247835618	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	42021601	247835618	1415003	5	7744											
BIRC6	57448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	32690161	32690161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttctggtctagcccttgCaatttctcatgcttcacatt	6	17	7	11	0	4	0	2	0	3	0	5	0	4	0	1	2	3	3	1	2	2	6	rs368963586		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr2:32690161C>T	ENST00000421745.2	+	26	5419	c.5285C>T	c.(5284-5286)gCa>gTa	p.A1762V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1762					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)					CTAGCCCTTGCAATTTCTCAT	0.323																																					p.A1762V	Pancreas(94;175 1509 16028 18060 45422)												BIRC6_ENST00000421745,NS,carcinoma,+2,2	BIRC6_ENST00000421745	2	2	0			c.C5285T												62	61	61					2																	32690161		2203	4299	6502	SO:0001583	missense	57448	exon26			CCCTTGCAATTTC	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.5285C>T	2.37:g.32690161C>T	ENSP00000393596:p.Ala1762Val		575	0	0		567	0.21	118	NM_016252	167	0.29	49	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	36	5.847373	0.97023	.	.	ENSG00000115760	ENST00000421745	T	0.73789	-0.78	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	L	0.38531	1.155	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.81653	-0.0835	10	0.54805	T	0.06	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	1762	Q9NR09	BIRC6_HUMAN	V	1762	ENSP00000393596:A1762V	ENSP00000393596:A1762V	A	+	2	0	BIRC6	32543665	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.081000	0.71309	2.810000	0.96702	0.650000	0.86243	GCA			0.323	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318769.3		NM_016252		T	32690161	C	T	32690161	3	4	104	1	0	0	0	0	1	0	0	0	1438	710	25	2	5387	2	BIRC6	2	32690161	Missense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10		32690161	210509212	6	7745											
ABCG8	64241	mdanderson.org	37	chr2	44071743	44071743	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggtcagagacctcaactAccaggtagaggcacgcctgg	11	5	14	11	1	2	2	2	0	0	2	2	4	2	3	3	5	2	2	3	5	3	2	rs4148211	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr2:44071743A>T	ENST00000272286.2	+	2	251	c.161A>T	c.(160-162)tAc>tTc	p.Y54F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	54	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		Y -> C (in dbSNP:rs4148211). {ECO:0000269|PubMed:11099417, ECO:0000269|PubMed:11452359, ECO:0000269|PubMed:11668628, ECO:0000269|PubMed:12111378}.		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)	GACCTCAACTACCAGGTAGAG	0.577																																					p.Y54F													.	.			0			c.A161T	GRCh37	CM075964	ABCG8	M	rs4148211							51	43	46					2																	44071743		2203	4300	6503	SO:0001583	missense	64241	exon2			TCAACTACCAGGT	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.161A>T	2.37:g.44071743A>T	ENSP00000272286:p.Tyr54Phe		58	0	0		48	0.04	2	NM_022437	0		0	Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494014	0.84962	.	.	ENSG00000143921	ENST00000272286	D	0.88046	-2.33	5.27	4.12	0.48240	ABC transporter-like (1);	0.184905	0.49305	D	0.000154	D	0.88299	0.6399	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.65815	0.995;0.992	D;P	0.64237	0.923;0.84	D	0.87330	0.2324	10	0.52906	T	0.07	.	10.9764	0.47469	0.927:0.0:0.073:0.0	.	54;54	Q9H221-2;Q9H221	.;ABCG8_HUMAN	F	54	ENSP00000272286:Y54F	ENSP00000272286:Y54F	Y	+	2	0	ABCG8	43925247	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.345000	0.65987	0.856000	0.35383	0.523000	0.50628	TAC			0.577	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250671.1		NM_022437		T	44071743	A	T	44071743	3	4	104	1	0	0	0	0	1	0	0	0	72	391	14	5	167	5	ABCG8	2	44071743	Missense_Mutation	SNP	A	TCGA-WZ-A7V3-01A-11D-A435-10	11381582	44071743	199127630	7	7746											
SMPD4	55627	ucsc.edu	37	chr2	130910188	130910188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagaggcgtagaggacAtagcccagggtgagcagcag	12	4	17	8	1	0	3	0	1	0	2	0	4	0	4	1	4	3	4	1	4	2	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr2:130910188A>G	ENST00000409031.1	-	20	3689	c.2541T>C	c.(2539-2541)taT>taC	p.Y847Y	SMPD4_ENST00000452225.2_Silent_p.Y588Y|SMPD4_ENST00000443958.2_Silent_p.Y511Y|SMPD4_ENST00000426662.2_Silent_p.Y483Y|SMPD4_ENST00000431183.2_Silent_p.Y745Y|SMPD4_ENST00000339679.7_Silent_p.Y705Y|SMPD4_ENST00000453750.1_Silent_p.Y596Y|SMPD4_ENST00000351288.6_Silent_p.Y818Y	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	808					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CGTAGAGGACATAGCCCAGGG	0.642																																					p.Y847Y													.	SMPD4	67		0			c.T2541C												29	28	29					2																	130910188		2153	4238	6391	SO:0001819	synonymous_variant	55627	exon20			GAGGACATAGCCC	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2541T>C	2.37:g.130910188A>G			86	0	0		107	0.02	2	NM_017951	393	0.11	42	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	0.099	-1.154481	0.01700	.	.	ENSG00000136699	ENST00000439886	.	.	.	4.08	1.12	0.20585	.	.	.	.	.	T	0.59155	0.2173	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	T	0.51973	-0.8637	4	.	.	.	.	11.1425	0.48411	0.1874:0.0:0.8126:0.0	.	.	.	.	T	722	.	.	M	-	2	0	SMPD4	130626658	0.114000	0.22134	0.304000	0.25085	0.051000	0.14879	-0.293000	0.08320	-0.101000	0.12219	-1.816000	0.00601	ATG			0.642	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254516.3	rescued with RNA-seq	NM_017751		G	130910188	A	G	130910188	2	3	104	1	0	0	0	0	0	0	0	1	14830	224	8	4		4	SMPD4	2	130910188	Silent	SNP	A	TCGA-WZ-A7V3-01A-11D-A435-10	86838445	130910188	112289185	8	7747											
ITGA4	3676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	182358131	182358131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgcagatgggatctcGtcaaccttctcacaggtaag	9	9	12	11	2	3	1	2	0	2	1	5	2	3	2	2	3	2	2	2	3	2	2	rs368002151		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr2:182358131G>A	ENST00000397033.2	+	11	1663	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	411					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|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)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATGGGATCTCGTCAACCTTCT	0.368																																					p.S411S													.	.			0			c.G1233A							G		0,3752		0,0,1876	105	99	101		1233	-11.7	0	2		101	1,8197		0,1,4098	no	coding-synonymous	ITGA4	NM_000885.4		0,1,5974	AA,AG,GG		0.0122,0.0,0.0084		411/1033	182358131	1,11949	1876	4099	5975	SO:0001819	synonymous_variant	3676	exon11			GATCTCGTCAACC		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1233G>A	2.37:g.182358131G>A			98	0	0		90	0.13	12	NM_000885	20	0	0	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	CCDS42788.1																																																																																					0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334427.1				A	182358131	G	A	182358131	2	1	104	1	0	0	0	0	0	0	0	1	7893	1132	40	1		1	ITGA4	2	182358131	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	51447943	182358131	60841242	9	7748											
VILL	50853	mdanderson.org	37	chr3	38038598	38038598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggaacagctttaataagGgtgacatcttcctgctggac	10	11	10	10	0	1	1	0	1	1	0	2	3	2	3	2	3	3	2	2	3	3	4	rs199511941	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr3:38038598G>T	ENST00000283713.6	+	6	747	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.G161C			O15195	VILL_HUMAN	villin-like	161					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTTTAATAAGGGTGACATCTT	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G161C													.	.			0			c.G481T												132	124	127					3																	38038598		2203	4300	6503	SO:0001583	missense	50853	exon5			AATAAGGGTGACA		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.481G>T	3.37:g.38038598G>T	ENSP00000283713:p.Gly161Cys		81	0	0	875	39	0.08	3	NM_015873	1	0	0	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907561	0.52333	.	.	ENSG00000136059	ENST00000283713;ENST00000492491;ENST00000383759;ENST00000356246	T;T;T	0.59906	0.23;0.23;0.23	4.69	-1.12	0.09808	Gelsolin domain (1);	0.494840	0.24864	N	0.034985	T	0.75961	0.3921	M	0.90870	3.155	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67795	-0.5578	10	0.87932	D	0	0.3195	9.1703	0.37076	0.4417:0.0:0.5583:0.0	.	161	O15195	VILL_HUMAN	C	161	ENSP00000283713:G161C;ENSP00000427355:G161C;ENSP00000373266:G161C	ENSP00000283713:G161C	G	+	1	0	VILL	38013602	0.948000	0.32251	0.000000	0.03702	0.965000	0.64279	2.801000	0.47908	-0.497000	0.06641	0.591000	0.81541	GGT			0.542	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253360.3		NM_015873		T	38038598	G	T	38038598	3	4	104	1	0	0	0	0	1	0	0	0	17189	1232	43	3	499	3	VILL	3	38038598	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		38038598	159983832	10	7749											
NBEAL2	23218	mdanderson.org	37	chr3	47039154	47039154	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcctggtgcagtgccagggGcctgccatcatcggggccct	5	7	15	14	1	1	0	1	0	0	0	2	0	1	0	5	5	4	1	5	5	0	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr3:47039154G>T	ENST00000450053.3	+	20	3107	c.2928G>T	c.(2926-2928)ggG>ggT	p.G976G	NBEAL2_ENST00000292309.5_Silent_p.G976G|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	976					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)		AGTGCCAGGGGCCTGCCATCA	0.622																																					p.G976G													.	.			0			c.G2928T												18	21	20					3																	47039154		1922	4125	6047	SO:0001819	synonymous_variant	23218	exon20			CCAGGGGCCTGCC	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.2928G>T	3.37:g.47039154G>T			76	0.0131578947	1		36	0.08	3	NM_015175	37	0	0	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403664	0.25291	.	.	ENSG00000160796	ENST00000416683	T	0.70164	-0.46	5.8	0.716	0.18191	.	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61647	-0.7020	7	0.87932	D	0	.	3.4093	0.07352	0.2028:0.1154:0.563:0.1188	.	.	.	.	V	448	ENSP00000410405:G448V	ENSP00000410405:G448V	G	+	2	0	NBEAL2	47014158	0.587000	0.26791	0.986000	0.45419	0.987000	0.75469	-0.238000	0.08977	0.062000	0.16340	0.561000	0.74099	GGC			0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344363.3		XM_291064		T	47039154	G	T	47039154	2	4	104	1	0	0	0	0	0	0	0	1	10205	1190	42	2		2	NBEAL2	3	47039154	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	9000556	47039154	150983276	11	7750											
DHX30	22907	bcgsc.ca	37	chr3	47887257	47887257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtataacctggcctctttgcGtgagctgggtgagacccagc	7	10	13	11	1	1	2	0	2	1	1	1	3	1	2	3	2	4	2	3	2	2	3			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr3:47887257G>T	ENST00000445061.1	+	10	1414	c.1007G>T	c.(1006-1008)cGt>cTt	p.R336L	DHX30_ENST00000446256.2_Missense_Mutation_p.R297L|DHX30_ENST00000348968.4_Missense_Mutation_p.R308L|DHX30_ENST00000457607.1_Missense_Mutation_p.R364L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	336						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)		GCCTCTTTGCGTGAGCTGGGT	0.587																																					p.R336L													.	DHX30	101		0			c.G1007T												111	97	102					3																	47887257		2203	4300	6503	SO:0001583	missense	22907	exon10			CTTTGCGTGAGCT	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.1007G>T	3.37:g.47887257G>T	ENSP00000405620:p.Arg336Leu		112	0	0		51	0.08	4	NM_138615	183	0	0	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577686	0.65878	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03772	3.84;3.83;3.84;3.81	5.38	4.5	0.54988	.	0.257927	0.39475	N	0.001356	T	0.04861	0.0131	L	0.40543	1.245	0.48341	D	0.999634	B;P	0.38455	0.307;0.632	B;B	0.35931	0.049;0.214	T	0.34403	-0.9830	10	0.52906	T	0.07	.	8.9981	0.36066	0.1622:0.0:0.8378:0.0	.	336;297	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	L	297;336;308;364	ENSP00000392601:R297L;ENSP00000405620:R336L;ENSP00000343442:R308L;ENSP00000394682:R364L	ENSP00000343442:R308L	R	+	2	0	DHX30	47862261	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	3.491000	0.53252	2.527000	0.85204	0.655000	0.94253	CGT			0.587	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257495.2		NM_138615		T	47887257	G	T	47887257	3	4	104	1	0	0	0	0	1	0	0	0	4509	1145	40	1	1048	1	DHX30	3	47887257	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	848103	47887257	150135173	12	7751											
FAM194A	131831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	150396273	150396273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaatcaaatacaatgtCatcaattatctgtttttctg	14	17	4	6	0	5	1	3	1	2	0	5	1	5	1	0	0	1	1	0	0	7	5			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr3:150396273C>A	ENST00000295910.6	-	10	1232	c.1180G>T	c.(1180-1182)Gac>Tac	p.D394Y	FAM194A_ENST00000491361.1_Missense_Mutation_p.D248Y	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						AATACAATGTCATCAATTATC	0.294																																					p.D394Y													.	.			0			c.G1180T												74	69	71					3																	150396273		2201	4290	6491	SO:0001583	missense	131831	exon10			CAATGTCATCAAT																												ENST00000295910.6:c.1180G>T	3.37:g.150396273C>A	ENSP00000295910:p.Asp394Tyr		261	0	0		377	0.13	49	NM_152394	0		0		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833759	0.32421	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.15487	2.64;2.42	3.85	2.03	0.26663	.	1.079770	0.07264	N	0.867996	T	0.22820	0.0551	L	0.51422	1.61	0.09310	N	1	P	0.49447	0.924	P	0.47941	0.562	T	0.20306	-1.0279	10	0.72032	D	0.01	-0.7828	7.2793	0.26302	0.0:0.7822:0.0:0.2178	.	394	Q7L0X2	F194A_HUMAN	Y	394;248;352	ENSP00000295910:D394Y;ENSP00000419366:D248Y	ENSP00000295910:D394Y	D	-	1	0	FAM194A	151878963	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.221000	0.17680	0.398000	0.25338	0.557000	0.71058	GAC			0.294	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257666.1				A	150396273	C	A	150396273	3	1	104	1	0	0	0	0	1	0	0	0	5536	826	29	3	831	3	FAM194A	3	150396273	Missense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	102509016	150396273	47626157	13	7752											
ZNF827	152485	mdanderson.org	37	chr4	146823705	146823705	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaaaaggactcaaatcGcatggtctcctcagtcctgg	11	8	12	10	1	3	0	2	0	1	0	6	3	4	3	2	5	0	1	2	5	3	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr4:146823705G>A	ENST00000508784.1	-	2	933	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.R236*			Q17R98	ZN827_HUMAN	zinc finger protein 827	236					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(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GACTCAAATCGCATGGTCTCC	0.512																																					p.R236X													ZNF827,NS,carcinoma,+1,4	ZNF827	1	4	0			c.C706T												75	70	72					4																	146823705		2203	4300	6503	SO:0001587	stop_gained	152485	exon2			CAAATCGCATGGT	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.706C>T	4.37:g.146823705G>A	ENSP00000421863:p.Arg236*		48	0	0		32	0.09	3	NM_178835	5	0	0	B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37		.	.	.	.	.	.	.	.	.	.	G	38	7.202182	0.98132	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	.	.	.	5.84	4.97	0.65823	.	0.052511	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0362	14.352	0.66708	0.0:0.0:0.563:0.437	.	.	.	.	X	236;236;235	.	ENSP00000281318:R235X	R	-	1	2	ZNF827	147043155	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.009000	0.49552	1.415000	0.47037	0.561000	0.74099	CGA			0.512	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000364654.2		NM_178835		A	146823705	G	A	146823705	4	1	104	1	0	0	0	0	0	1	0	0	18203	1095	38	1	2575	1	ZNF827	4	146823705	Nonsense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		146823705	44330571	14	7753											
PPWD1	23398	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	64867809	64867809	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttttgacaaactccAtacatcacctcttactcaga	13	14	2	12	0	4	2	3	1	1	1	5	2	5	2	2	0	3	0	2	0	4	5			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr5:64867809A>G	ENST00000261308.5	+	5	737	c.665A>G	c.(664-666)cAt>cGt	p.H222R	PPWD1_ENST00000535264.1_Missense_Mutation_p.H192R|PPWD1_ENST00000538977.1_Missense_Mutation_p.H66R	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	222					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)		GACAAACTCCATACATCACCT	0.413																																					p.H222R													.	.			0			c.A665G												103	109	107					5																	64867809		2203	4300	6503	SO:0001583	missense	23398	exon5			AACTCCATACATC	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	ENST00000261308.5:c.665A>G	5.37:g.64867809A>G	ENSP00000261308:p.His222Arg		186	0	0		195	0.35	68	NM_015342	133	0.59	79	B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451104	0.84209	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.70045	-0.45;-0.45;4.58;-0.45	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89477	0.3747	10	0.87932	D	0	.	16.1984	0.82046	1.0:0.0:0.0:0.0	.	192;222	F5H7P7;Q96BP3	.;PPWD1_HUMAN	R	222;192;66;141	ENSP00000261308:H222R;ENSP00000442371:H192R;ENSP00000444496:H66R;ENSP00000423234:H141R	ENSP00000261308:H222R	H	+	2	0	PPWD1	64903565	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.266000	0.95659	2.223000	0.72356	0.402000	0.26972	CAT			0.413	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253970.2		NM_015342		G	64867809	A	G	64867809	3	3	104	1	0	0	0	0	1	0	0	0	12434	217	8	4	683	4	PPWD1	5	64867809	Missense_Mutation	SNP	A	TCGA-WZ-A7V3-01A-11D-A435-10		64867809	116047451	15	7754											
SGTB	54557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	65004355	65004355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttttcccacatcttcagGcactgagtttgaaaggggca	10	11	10	10	0	2	2	1	2	1	0	3	2	3	2	1	3	1	4	1	3	1	4			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr5:65004355G>A	ENST00000381007.4	-	4	470	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	79								p.P79S(1)		large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		ACATCTTCAGGCACTGAGTTT	0.333																																					p.P79S													SGTB,trunk,malignant_melanoma,0,1	SGTB	0	1	1	Substitution - Missense(1)	skin(1)	c.C235T												112	111	111					5																	65004355		2203	4300	6503	SO:0001583	missense	54557	exon4			CTTCAGGCACTGA	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.235C>T	5.37:g.65004355G>A	ENSP00000370395:p.Pro79Ser		100	0	0		72	0.42	30	NM_019072	39	0.51	20		Missense_Mutation	SNP	ENST00000381007.4	37	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683948	0.47991	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.64085	-0.08;0.0	5.17	3.31	0.37934	.	2.715780	0.01611	N	0.022554	T	0.55768	0.1941	L	0.34521	1.04	0.58432	D	0.999999	B	0.11235	0.004	B	0.17098	0.017	T	0.06698	-1.0812	10	0.21540	T	0.41	-3.849	11.17	0.48567	0.0:0.1391:0.7165:0.1445	.	79	Q96EQ0	SGTB_HUMAN	S	79	ENSP00000370395:P79S;ENSP00000421447:P79S	ENSP00000370395:P79S	P	-	1	0	SGTB	65040111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.812000	0.62613	0.642000	0.30620	0.558000	0.71614	CCT			0.333	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215057.2		NM_019072		A	65004355	G	A	65004355	3	1	104	1	0	0	0	0	1	0	0	0	14249	1203	42	2	711	2	SGTB	5	65004355	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	136546	65004355	115910905	16	7755											
FBXW11	23291	mdanderson.org	37	chr5	171303295	171303295	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagacatacttactttgatGgtcctgtcaccagaggcaga	11	10	10	10	0	1	4	1	1	0	3	2	4	2	4	2	2	2	2	2	2	2	3			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr5:171303295G>T	ENST00000265094.5	-	8	1289	c.1152C>A	c.(1150-1152)acC>acA	p.T384T	FBXW11_ENST00000393802.2_Silent_p.T350T|FBXW11_ENST00000296933.6_Silent_p.T371T|FBXW11_ENST00000425623.2_Silent_p.T352T|FBXW11_ENST00000522891.1_5'Flank	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	384					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTACTTTGATGGTCCTGTCAC	0.507																																					p.T384T													.	.			0			c.C1152A												90	77	82					5																	171303295		2203	4300	6503	SO:0001819	synonymous_variant	23291	exon8			TTTGATGGTCCTG	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1152C>A	5.37:g.171303295G>T			55	0	0		42	0.07	3	NM_012300	95	0	0	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	37	CCDS34289.1																																																																																					0.507	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000372382.1		NM_012300		T	171303295	G	T	171303295	2	4	104	1	0	0	0	0	0	0	0	1	5777	1335	47	3		3	FBXW11	5	171303295	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	106298940	171303295	9611965	17	7756											
PPT2	9374	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	32123529	32123533	+	Frame_Shift_Del	DEL	CCTCT	CCTCT	-																															aacgtggattctttcatctcCctctcctctccacagatggg																										TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	CCTCT	CCTCT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:32123529_32123533delCCTCT	ENST00000324816.6	+	4	970_974	c.402_406delCCTCT	c.(400-408)tccctctccfs	p.SLS134fs	PPT2_ENST00000375137.2_Frame_Shift_Del_p.SLS134fs|PPT2_ENST00000361568.2_Frame_Shift_Del_p.SLS140fs|PPT2_ENST00000395523.1_Frame_Shift_Del_p.SLS134fs|PRRT1_ENST00000375150.2_5'Flank|PPT2-EGFL8_ENST00000422437.1_Frame_Shift_Del_p.SLS134fs|PPT2_ENST00000375143.2_Frame_Shift_Del_p.SLS134fs|PPT2_ENST00000493548.1_Intron|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000445576.2_Frame_Shift_Del_p.SLS134fs|PPT2_ENST00000437001.2_Frame_Shift_Del_p.SLS11fs			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	134					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CTTTCATCTCCCTCTCCTCTCCACA	0.517																																					p.140_141del													.	PPT2	19		0			c.419_423del																																									SO:0001589	frameshift_variant	9374	exon4			CATCTCCCTCTCC	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.402_406delCCTCT	6.37:g.32123534_32123538delCCTCT	ENSP00000320528:p.Ser134fs		187	0	0		145	0.14	20	NM_138717	89	0	0	A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Frame_Shift_Del	DEL	ENST00000324816.6	37	CCDS4742.1																																																																																					0.517	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076552.4		NM_138717		-	32123533	CCTCT	-	32123529	7	5	104	1	0	1	0	1	0	0	0	0	12432	610	22	0	434	0	PPT2	6	32123529	Frame_Shift_Del	DEL	CCTCT	TCGA-WZ-A7V3-01A-11D-A435-10		32123529	138991538	18	7757											
RNF8	9025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	37336599	37336599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaatcacaggggaaaggtGaagtggccagtacaccctct	13	7	12	9	0	2	2	1	2	1	0	2	3	2	3	2	4	1	1	2	4	4	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:37336599G>A	ENST00000373479.4	+	3	773	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.E194K	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	194					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GGGGAAAGGTGAAGTGGCCAG	0.478																																					p.E194K													.	.			0			c.G580A												80	80	80					6																	37336599		2203	4300	6503	SO:0001583	missense	9025	exon3			AAAGGTGAAGTGG	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.580G>A	6.37:g.37336599G>A	ENSP00000362578:p.Glu194Lys		141	0	0		121	0.21	25	NM_003958	91	0.38	35	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	7.850	0.723868	0.15439	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.82619	-1.63;0.89;0.89	6.07	2.13	0.27403	.	0.852993	0.10267	N	0.695207	T	0.49236	0.1545	L	0.33485	1.01	0.09310	N	0.999999	B;B	0.13145	0.007;0.002	B;B	0.11329	0.006;0.003	T	0.38993	-0.9635	10	0.08179	T	0.78	-1.2667	7.4434	0.27196	0.2027:0.1209:0.6763:0.0	.	137;194	C9J858;O76064	.;RNF8_HUMAN	K	194;137;194	ENSP00000362578:E194K;ENSP00000417736:E137K;ENSP00000418879:E194K	ENSP00000362578:E194K	E	+	1	0	RNF8	37444577	0.006000	0.16342	0.023000	0.16930	0.057000	0.15508	1.481000	0.35476	0.441000	0.26529	0.655000	0.94253	GAA			0.478	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040403.2				A	37336599	G	A	37336599	3	1	104	1	0	0	0	0	1	0	0	0	13523	1291	45	3	590	3	RNF8	6	37336599	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	5213070	37336599	133778468	19	7758											
MCM3	4172	mdanderson.org	37	chr6	52141891	52141891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtctgtggtgacagcaGccgtcagacccactccagag	8	7	12	14	1	2	3	1	1	1	2	3	3	3	3	4	2	2	1	4	2	0	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:52141891G>A	ENST00000229854.7	-	8	1215	c.1139C>T	c.(1138-1140)gCt>gTt	p.A380V	MCM3_ENST00000596288.1_Missense_Mutation_p.A425V|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.A334V			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	380	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	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)					GGTGACAGCAGCCGTCAGACC	0.592																																					p.A425V													.	.			0			c.C1274T												71	70	71					6																	52141891		2203	4300	6503	SO:0001583	missense	4172	exon8			ACAGCAGCCGTCA	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.1139C>T	6.37:g.52141891G>A	ENSP00000229854:p.Ala380Val		55	0	0		28	0.11	3	NM_002388	214	0	0	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.782682	0.96937	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.11930	2.73;2.73	5.36	5.36	0.76844	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.33803	-0.9854	10	0.87932	D	0	-18.6456	19.2924	0.94105	0.0:0.0:1.0:0.0	.	334;380	B4DUQ9;P25205	.;MCM3_HUMAN	V	380;334	ENSP00000229854:A380V;ENSP00000388647:A334V	ENSP00000229854:A380V	A	-	2	0	MCM3	52249850	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.657000	0.98554	2.783000	0.95769	0.655000	0.94253	GCT			0.592	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470784.1				A	52141891	G	A	52141891	3	1	104	1	0	0	0	0	1	0	0	0	9403	971	34	2	1327	2	MCM3	6	52141891	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	14805292	52141891	118973176	20	7759											
KIAA1586	57691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	56919177	56919177	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacagaaaccatgaagataTttttaattactttgatttgc	14	16	6	5	0	0	5	0	3	0	2	0	5	0	5	1	0	3	0	1	0	5	7			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:56919177T>A	ENST00000370733.4	+	4	2087	c.1880T>A	c.(1879-1881)aTt>aAt	p.I627N	KIAA1586_ENST00000545356.1_Missense_Mutation_p.I600N	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	627							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CATGAAGATATTTTTAATTAC	0.313																																					p.I627N													.	.			0			c.T1880A												46	52	50					6																	56919177		2183	4269	6452	SO:0001583	missense	57691	exon4			AAGATATTTTTAA	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1880T>A	6.37:g.56919177T>A	ENSP00000359768:p.Ile627Asn		237	0	0		202	0.18	37	NM_020931	17	0.29	5	A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	t	8.412	0.844437	0.16963	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.23348	1.91;1.91	3.35	3.35	0.38373	Ribonuclease H-like (1);	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.24253	N	0.99531	D;D	0.71674	0.998;0.997	D;D	0.66351	0.943;0.918	T	0.09796	-1.0658	9	0.46703	T	0.11	.	8.3236	0.32142	0.0:0.0:0.0:1.0	.	600;627	F5H2N6;Q9HCI6	.;K1586_HUMAN	N	627;600	ENSP00000359768:I627N;ENSP00000445507:I600N	ENSP00000359768:I627N	I	+	2	0	KIAA1586	57027136	0.926000	0.31397	0.615000	0.29064	0.625000	0.37756	0.221000	0.17680	1.524000	0.49035	0.528000	0.53228	ATT			0.313	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041033.1		NM_020931		A	56919177	T	A	56919177	3	1	104	1	0	0	0	0	1	0	0	0	8260	1493	52	5	1894	5	KIAA1586	6	56919177	Missense_Mutation	SNP	T	TCGA-WZ-A7V3-01A-11D-A435-10	4777286	56919177	114195890	21	7760											
EYS	346007	mdanderson.org	37	chr6	65016865	65016865	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactactgctattttacctGcaattgttaatgtgatagtt	10	18	6	7	0	1	1	1	1	0	0	1	1	1	1	1	0	4	4	1	0	6	8			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:65016865G>T	ENST00000370621.3	-	30	6715	c.6189C>A	c.(6187-6189)tgC>tgA	p.C2063*	EYS_ENST00000503581.1_Nonsense_Mutation_p.C2063*|EYS_ENST00000370616.2_Nonsense_Mutation_p.C2063*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2063	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TATTTTACCTGCAATTGTTAA	0.313																																					p.C2063X													.	.			0			c.C6189A												204	163	175					6																	65016865		692	1590	2282	SO:0001587	stop_gained	346007	exon30			TTACCTGCAATTG		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6189C>A	6.37:g.65016865G>T	ENSP00000359655:p.Cys2063*		58	0	0		39	0.08	3	NM_001142800	0		0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	G	44	10.534306	0.99423	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	5.2	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0506	0.36374	0.173:0.0:0.827:0.0	.	.	.	.	X	2063	.	ENSP00000359650:C2063X	C	-	3	2	EYS	65074824	1.000000	0.71417	0.860000	0.33809	0.107000	0.19398	3.746000	0.55127	0.594000	0.29761	0.655000	0.94253	TGC			0.313	EYS-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351351.3		XM_294050		T	65016865	G	T	65016865	4	4	104	1	0	0	0	0	0	1	0	0	5339	1311	46	2	3301	2	EYS	6	65016865	Nonsense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	8097688	65016865	106098202	22	7761											
HECA	51696	mdanderson.org	37	chr6	139487973	139487973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggccagtccccacccaCgggctactccatcctctctc	5	7	7	22	2	1	0	0	0	1	0	6	0	4	0	7	2	1	1	7	2	1	1	rs548239720		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:139487973C>T	ENST00000367658.2	+	2	1109	c.824C>T	c.(823-825)aCg>aTg	p.T275M	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	275					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCCCCACCCACGGGCTACTCC	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		13660	0		0	False		,,,				2504	0				p.T275M													.	.			0			c.C824T												15	18	17					6																	139487973		2201	4298	6499	SO:0001583	missense	51696	exon2			CACCCACGGGCTA	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.824C>T	6.37:g.139487973C>T	ENSP00000356630:p.Thr275Met		57	0	0		29	0.1	3	NM_016217	40	0	0		Missense_Mutation	SNP	ENST00000367658.2	37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702418	0.48307	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.07	5.07	0.68467	.	0.327838	0.36972	N	0.002304	T	0.38161	0.1030	N	0.08118	0	0.47584	D	0.999463	D	0.63046	0.992	P	0.53861	0.736	T	0.50996	-0.8761	9	0.59425	D	0.04	.	18.6449	0.91407	0.0:1.0:0.0:0.0	.	275	Q9UBI9	HDC_HUMAN	M	275	.	ENSP00000356630:T275M	T	+	2	0	HECA	139529666	0.219000	0.23619	0.951000	0.38953	0.407000	0.30961	4.447000	0.60020	2.642000	0.89623	0.563000	0.77884	ACG			0.657	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042456.1		NM_016217		T	139487973	C	T	139487973	3	4	104	1	0	0	0	0	1	0	0	0	7053	536	19	1	830	1	HECA	6	139487973	Missense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	74471108	139487973	31627094	23	7762											
RSPH10B	222967	broad.mit.edu	37	chr7	5983086	5983086	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtagagcgtccgctgttGctcacggaataaattgccta	11	10	11	9	3	1	2	1	0	0	2	2	3	2	3	2	1	3	4	2	1	5	5	rs142698648	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:5983086G>A	ENST00000405415.1	-	14	2013	c.1627C>T	c.(1627-1629)Caa>Taa	p.Q543*	RSPH10B_ENST00000404406.1_Nonsense_Mutation_p.Q543*|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000337579.3_Nonsense_Mutation_p.Q543*|RSPH10B_ENST00000441023.2_Nonsense_Mutation_p.Q543*|RSPH10B_ENST00000539903.1_3'UTR			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	543										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GTCCGCTGTTGCTCACGGAAT	0.398													G|||	19	0.00379393	0.0144	0	5008	,	,		24415	0		0	False		,,,				2504	0				p.Q543X													.	RSPH10B	28		0			c.C1627T							G	stop/GLN	58,4226		1,56,2085	27	28	28		1627	1.4	0	7	dbSNP_134	28	0,8542		0,0,4271	no	stop-gained	RSPH10B	NM_173565.3		1,56,6356	AA,AG,GG		0.0,1.3539,0.4522		543/871	5983086	58,12768	2142	4271	6413	SO:0001587	stop_gained	222967	exon15			GCTGTTGCTCACG		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.1627C>T	7.37:g.5983086G>A	ENSP00000385443:p.Gln543*		1154	0.0017331023	2		1410	0.07	98	NM_173565	12	0	0	A6NMW7|Q86ST9|Q8NE68	Nonsense_Mutation	SNP	ENST00000405415.1	37	CCDS34598.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205747	0.58234	0.013539	0.0	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	.	.	.	3.38	1.42	0.22433	.	1.618190	0.04540	N	0.387935	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	12.4148	0.55488	0.0:0.5422:0.4578:0.0	.	.	.	.	X	543;543;543;402;543	.	ENSP00000338556:Q543X	Q	-	1	0	RSPH10B	5949612	0.384000	0.25164	0.041000	0.18516	0.118000	0.20060	1.390000	0.34464	0.205000	0.20568	0.551000	0.68910	CAA			0.398	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325465.2		NM_173565		A	5983086	G	A	5983086	4	1	104	1	0	0	0	0	0	1	0	0	13726	1328	46	2	1013	2	RSPH10B	7	5983086	Nonsense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		5983086	153155577	24	7763											
SLC12A9	56996	ucsc.edu;bcgsc.ca	37	chr7	100458762	100458762	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggcccttgcccagctGgtgctcctggctgggaagct	3	11	13	14	0	1	0	0	0	1	0	2	1	2	1	3	4	4	4	3	4	1	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:100458762G>T	ENST00000354161.3	+	10	1346	c.1221G>T	c.(1219-1221)ctG>ctT	p.L407L	SLC12A9_ENST00000275729.3_Silent_p.L318L|SLC12A9_ENST00000415287.1_Silent_p.L318L|SLC12A9_ENST00000428758.1_Silent_p.L407L|SLC12A9_ENST00000540482.1_Silent_p.L407L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	407					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)					TTGCCCAGCTGGTGCTCCTGG	0.587																																					p.L407L													.	SLC12A9	81		0			c.G1221T												110	95	100					7																	100458762		2203	4300	6503	SO:0001819	synonymous_variant	56996	exon10			CCAGCTGGTGCTC	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.1221G>T	7.37:g.100458762G>T			72	0	0		39	0.1	4	NM_001267812	44	0	0	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	CCDS5707.1																																																																																					0.587	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342837.1		NM_020246		T	100458762	G	T	100458762	2	4	104	1	0	0	0	0	0	0	0	1	14413	1335	47	3		3	SLC12A9	7	100458762	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	94475676	100458762	58679901	25	7764											
PLXNA4	91584	broad.mit.edu	37	chr7	131817901	131817901	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccgggactgctcagccagGtatgcgttcatgtcttggtc	6	12	12	11	2	3	0	2	0	1	0	5	1	4	1	2	3	3	3	2	3	1	3			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:131817901G>T	ENST00000359827.3	-	31	6458	c.5496C>A	c.(5494-5496)taC>taA	p.Y1832*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Y1832*			Q9HCM2	PLXA4_HUMAN	plexin A4	1832					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						GCTCAGCCAGGTATGCGTTCA	0.502																																					p.Y1832X													.	PLXNA4	873		0			c.C5496A												146	148	147					7																	131817901		2198	4300	6498	SO:0001587	stop_gained	91584	exon31			AGCCAGGTATGCG	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.5496C>A	7.37:g.131817901G>T	ENSP00000352882:p.Tyr1832*		95	0	0		59	0.05	3	NM_020911	2	0	0	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	46	12.669412	0.99687	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	.	.	.	5.24	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.098	0.42486	0.1533:0.0:0.8467:0.0	.	.	.	.	X	1832	.	ENSP00000323194:Y1832X	Y	-	3	2	PLXNA4	131468441	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	3.290000	0.51755	1.228000	0.43614	0.561000	0.74099	TAC			0.502	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338422.2		NM_181775		T	131817901	G	T	131817901	4	4	104	1	0	0	0	0	0	1	0	0	12139	1256	44	3	196	3	PLXNA4	7	131817901	Nonsense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	31359139	131817901	27320762	26	7765											
ABCF2	10061	mdanderson.org	37	chr7	150913107	150913107	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcggatcatgccatctgtGggtagtagctaggaagaaaa	12	11	12	6	1	2	1	1	0	1	1	3	3	2	3	1	3	2	3	1	3	6	4			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:150913107G>T	ENST00000287844.2	-	12	1456	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Silent_p.P449P	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	449	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCATCTGTGGGTAGTAGCT	0.478																																					p.P449P													ABCF2,NS,carcinoma,-1,1	ABCF2	-1	1	0			c.C1347A												106	94	98					7																	150913107		2203	4300	6503	SO:0001819	synonymous_variant	10061	exon12			ATCTGTGGGTAGT	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1347C>A	7.37:g.150913107G>T			64	0	0		44	0.07	3	NM_007189	133	0	0	O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	CCDS5923.1																																																																																					0.478	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336086.1		NM_005692		T	150913107	G	T	150913107	2	4	104	1	0	0	0	0	0	0	0	1	66	1335	47	3		3	ABCF2	7	150913107	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	19095206	150913107	8225556	27	7766											
MNX1	3110	bcgsc.ca	37	chr7	156802391	156802391	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcaggatcatgcccgcGgtggacgcgcgcagccactg	7	6	15	13	5	1	0	1	0	0	0	1	2	1	2	2	4	2	2	2	4	1	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:156802391G>A	ENST00000252971.6	-	1	954	c.654C>T	c.(652-654)acC>acT	p.T218T	MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000469500.1_5'Flank|MNX1_ENST00000543409.1_5'Flank|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	218					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|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)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATGCCCGCGGTGGACGCGC	0.721																																					p.T218T													.	MNX1	17		0			c.C654T												11	12	12					7																	156802391		2115	4160	6275	SO:0001819	synonymous_variant	3110	exon1			GCCCGCGGTGGAC	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"Homeoboxes / ANTP class : HOXL subclass"	4979	protein-coding gene	gene with protein product		142994	"homeo box HB9", "homeobox HB9"	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.654C>T	7.37:g.156802391G>A			43	0	0		29	0.14	4	NM_005515	49	0	0	F5H401|Q9Y648	Silent	SNP	ENST00000252971.6	37	CCDS34788.1																																																																																					0.721	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347796.3				A	156802391	G	A	156802391	2	1	104	1	0	0	0	0	0	0	0	1	9695	1103	39	1		1	MNX1	7	156802391	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	5889284	156802391	2336272	28	7767											
SPAG1	6674	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr8	101232531	101232532	+	Frame_Shift_Del	DEL	TA	TA	-																															ctggaacttcatccattctcTatgaaacctcttctgaggcg																										TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	TA	TA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr8:101232531_101232532delTA	ENST00000388798.2	+	13	1751_1752	c.1560_1561delTA	c.(1558-1563)tctatgfs	p.M521fs	SPAG1_ENST00000523302.1_Intron|SPAG1_ENST00000251809.3_Frame_Shift_Del_p.M521fs	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	521					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATCCATTCTCTATGAAACCTCT	0.381																																					p.520_520del													.	SPAG1	80		0			c.1559_1560del																																									SO:0001589	frameshift_variant	6674	exon13			ATTCTCTATGAAA	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1560_1561delTA	8.37:g.101232531_101232532delTA	ENSP00000373450:p.Met521fs		124	0	0		108	0.14	15	NM_172218	18	0	0	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Frame_Shift_Del	DEL	ENST00000388798.2	37	CCDS34930.1																																																																																					0.381	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379853.2		NM_172218		-	101232532	TA	-	101232531	7	5	104	1	0	1	0	1	0	0	0	0	14998	1509	53	0	1606	0	SPAG1	8	101232531	Frame_Shift_Del	DEL	TA	TCGA-WZ-A7V3-01A-11D-A435-10		101232531	45131491	29	7768											
MYC	4609	mdanderson.org	37	chr8	128750607	128750607	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggagaacttctaccaGcagcagcagcagagcgagct	13	4	14	10	1	1	2	0	0	1	2	1	6	1	3	1	2	8	5	1	2	2	2	rs61752959	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr8:128750607G>C	ENST00000259523.6	+	2	1304	c.99G>C	c.(97-99)caG>caC	p.Q33H	MYC_ENST00000524013.1_Missense_Mutation_p.Q47H|MYC_ENST00000377970.2_Missense_Mutation_p.Q48H			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	33	Poly-Gln.				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)	p.Q33H(1)		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)	ACTTCTACCAGCAGCAGCAGC	0.612		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q48H				Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	MYC,trunk,malignant_melanoma,0,1	MYC	0	1	1	Substitution - Missense(1)	skin(1)	c.G144C												44	46	45					8																	128750607		2203	4300	6503	SO:0001583	missense	4609	exon2			CTACCAGCAGCAG		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	ENST00000259523.6:c.99G>C	8.37:g.128750607G>C	ENSP00000259523:p.Gln33His		56	0.0357142857	2	1567	60	0.08	5	NM_002467	64	0	0	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.18|10.18	1.279178|1.279178	0.23307|0.23307	.|.	.|.	ENSG00000136997|ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013|ENST00000520751	T;T;T;T|.	0.16073|.	2.37;2.37;2.37;2.37|.	5.08|5.08	0.863|0.863	0.19062|0.19062	Transcription regulator Myc, N-terminal (1);|.	0.789352|.	0.11848|.	N|.	0.523582|.	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.11927|0.11927	0.2|0.2	0.23266|0.23266	N|N	0.998011|0.998011	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.47509|0.47509	-0.9112|-0.9112	10|6	0.11485|0.87932	T|D	0.65|0	-6.8285|-6.8285	19.6165|19.6165	0.95636|0.95636	0.0:0.7294:0.2705:0.0|0.0:0.7294:0.2705:0.0	.|.	33|.	P01106|.	MYC_HUMAN|.	H|T	33;47;48;47|22	ENSP00000259523:Q33H;ENSP00000429441:Q47H;ENSP00000367207:Q48H;ENSP00000430235:Q47H|.	ENSP00000259523:Q33H|ENSP00000430226:S22T	Q|S	+|+	3|2	2|0	MYC|MYC	128819789|128819789	0.000000|0.000000	0.05858|0.05858	0.997000|0.997000	0.53966|0.53966	0.870000|0.870000	0.49936|0.49936	-0.054000|-0.054000	0.11826|0.11826	-0.043000|-0.043000	0.13513|0.13513	0.561000|0.561000	0.74099|0.74099	CAG|AGC			0.612	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000250278.1				C	128750607	G	C	128750607	3	2	104	1	0	0	0	0	1	0	0	0	10032	962	34	5	150	5	MYC	8	128750607	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	27518076	128750607	17613415	30	7769											
LMX1B	4010	hgsc.bcm.edu;mdanderson.org	37	chr9	129455807	129455807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctctgagccaggtccGagagacactggcagctgaga	9	7	12	13	1	2	3	0	2	2	2	4	6	3	3	3	2	2	2	3	2	0	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr9:129455807G>T	ENST00000373474.4	+	5	753	c.746G>T	c.(745-747)cGa>cTa	p.R249L	LMX1B_ENST00000526117.1_Missense_Mutation_p.R249L|LMX1B_ENST00000561065.1_Missense_Mutation_p.R226L|LMX1B_ENST00000355497.5_Missense_Mutation_p.R249L|LMX1B_ENST00000425646.2_Missense_Mutation_p.R226L			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	249			R -> P (in NPS). {ECO:0000269|PubMed:9837817}.		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						AGCCAGGTCCGAGAGACACTG	0.612									Nail-Patella Syndrome																												p.R249L	Pancreas(110;1796 2278 18357 20466)												LMX1B_ENST00000355497,bladder,carcinoma,0,2	LMX1B_ENST00000355497	0	2	0			c.G746T	GRCh37	CM981220	LMX1B	M								51	53	52					9																	129455807		2203	4300	6503	SO:0001583	missense	4010	exon5	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	AGGTCCGAGAGAC	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.746G>T	9.37:g.129455807G>T	ENSP00000362573:p.Arg249Leu		51	0	0		64	0.06	4	NM_001174146	1	0	0	F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814079	0.90790	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	4.6	4.6	0.57074	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.974;0.955	D	0.98256	1.0496	10	0.22109	T	0.4	.	16.5679	0.84603	0.0:0.0:1.0:0.0	.	226;226;249	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	L	249;249;249;226	ENSP00000436930:R249L;ENSP00000362573:R249L;ENSP00000347684:R249L;ENSP00000390923:R226L	ENSP00000347684:R249L	R	+	2	0	LMX1B	128495628	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.882000	0.92420	2.370000	0.80446	0.561000	0.74099	CGA			0.612	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054123.2				T	129455807	G	T	129455807	3	4	104	1	0	0	0	0	1	0	0	0	8877	1058	37	1	764	1	LMX1B	9	129455807	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		129455807	11757624	31	7770											
FNBP1	23048	mdanderson.org	37	chr9	132678245	132678245	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaacaattgtgcttacCagcttgagagaaagcttcat	13	11	9	8	0	1	2	1	1	0	1	1	4	1	3	1	1	5	3	1	1	4	4			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr9:132678245C>T	ENST00000446176.2	-	11	1371	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	FNBP1_ENST00000443566.2_Splice_Site_p.L23L|FNBP1_ENST00000355681.3_Splice_Site_p.L366L|FNBP1_ENST00000478129.1_Intron|FNBP1_ENST00000420781.1_Intron	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	395	Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTGTGCTTACCAGCTTGAGAG	0.373			T	MLL	AML																																p.L395L				Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	.	.			0			c.G1185A												80	75	76					9																	132678245		1865	4106	5971	SO:0001630	splice_region_variant	23048	exon11			GCTTACCAGCTTG	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1185+1G>A	9.37:g.132678245C>T			46	0	0		41	0.07	3	NM_015033	8	0	0	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Silent	SNP	ENST00000446176.2	37	CCDS48040.1																																																																																					0.373	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054630.2			Silent	T	132678245	C	T	132678245	5	4	104	1	0	0	0	0	0	0	1	0	5978	608	21	3	696	3	FNBP1	9	132678245	Splice_Site	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	3222438	132678245	8535186	32	7771											
DNLZ	728489	mdanderson.org	37	chr9	139256497	139256497	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgccagggctggggggAccctcatcctcacccgcttc	4	9	12	16	1	3	0	2	0	1	0	5	1	4	1	4	4	1	2	4	4	0	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr9:139256497A>G	ENST00000371738.3	-	3	578	c.504T>C	c.(502-504)ggT>ggC	p.G168G	CARD9_ENST00000460290.1_5'Flank|DNLZ_ENST00000371739.3_3'UTR	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	168						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GGCTGGGGGGACCCTCATCCT	0.687																																					p.G168G													.	.			0			c.T504C												16	20	19					9																	139256497		2189	4287	6476	SO:0001819	synonymous_variant	728489	exon3			GGGGGGACCCTCA	AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"Zinc fingers"	33879	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 15 homolog (yeast)", "HSP70 escort protein"		"chromosome 9 open reading frame 151"	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.504T>C	9.37:g.139256497A>G			59	0	0		42	0.07	3	NM_001080849	162	0.02	3	B2RUX5|B9EJE1	Silent	SNP	ENST00000371738.3	37	CCDS35179.1																																																																																					0.687	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055075.2		NM_001080849		G	139256497	A	G	139256497	2	3	104	1	0	0	0	0	0	0	0	1	4674	262	10	4		4	DNLZ	9	139256497	Silent	SNP	A	TCGA-WZ-A7V3-01A-11D-A435-10	6578252	139256497	1956934	33	7772											
VCL	7414	broad.mit.edu	37	chr10	75854211	75854211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcccacagtggatgaccGtggagtcggtaagggcagca	11	7	14	9	2	0	1	0	1	0	0	2	3	1	3	2	4	1	3	2	4	2	2	rs367568441		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr10:75854211G>A	ENST00000211998.4	+	11	1629	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	VCL_ENST00000372755.3_Missense_Mutation_p.R512H|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	512	3 X 112 AA tandem repeats.|N-terminal globular head.				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)					GTGGATGACCGTGGAGTCGGT	0.502													G|||	1	0.000199681	0	0	5008	,	,		20512	0		0	False		,,,				2504	0.001				p.R512H													.	VCL	77		0			c.G1535A												57	44	48					10																	75854211		2203	4300	6503	SO:0001583	missense	7414	exon11			ATGACCGTGGAGT	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.1535G>A	10.37:g.75854211G>A	ENSP00000211998:p.Arg512His		178	0.0056179775	1		154	0.03	4	NM_003373	49	0	0	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496944	0.44352	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.77358	-1.09;-1.09;-1.09	5.79	5.79	0.91817	.	0.114120	0.64402	D	0.000012	T	0.66963	0.2843	L	0.31752	0.955	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.60601	-0.7231	10	0.30854	T	0.27	.	13.3145	0.60399	0.0721:0.0:0.9279:0.0	.	439;512;512	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	512;512;419;439;184	ENSP00000361841:R512H;ENSP00000211998:R512H;ENSP00000415489:R184H	ENSP00000211998:R512H	R	+	2	0	VCL	75524217	1.000000	0.71417	0.994000	0.49952	0.725000	0.41563	5.410000	0.66381	2.752000	0.94435	0.585000	0.79938	CGT			0.502	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_003373, NM_014000		A	75854211	G	A	75854211	3	1	104	1	0	0	0	0	1	0	0	0	17163	1145	40	1	1577	1	VCL	10	75854211	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		75854211	59680536	34	7773											
KIF20B	9585	broad.mit.edu	37	chr10	91497687	91497687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacacagttagaccttttagGtaatgattatttggtaagta	13	16	8	4	0	0	2	0	1	0	1	0	2	0	2	1	2	1	4	1	2	7	9			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr10:91497687G>T	ENST00000371728.3	+	20	3154	c.3089G>T	c.(3088-3090)gGt>gTt	p.G1030V	KIF20B_ENST00000416354.1_Missense_Mutation_p.G1060V|KIF20B_ENST00000260753.4_Missense_Mutation_p.G990V|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.G1030V	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1030					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GACCTTTTAGGTAATGATTAT	0.343																																					p.G990V													KIF20B,colon,carcinoma,-1,1	KIF20B	191	1	0			c.G2969T												73	83	80					10																	91497687		2203	4294	6497	SO:0001583	missense	9585	exon20			TTTTAGGTAATGA	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3089G>T	10.37:g.91497687G>T	ENSP00000360793:p.Gly1030Val		141	0	0		150	0.03	5	NM_016195	29	0	0	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	2.227	-0.377040	0.05000	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.67698	-0.22;-0.23;-0.28;-0.22	4.86	-5.05	0.02955	.	0.928802	0.09073	N	0.852562	T	0.43853	0.1266	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.11235	0.004;0.004	B;B	0.10450	0.002;0.005	T	0.33879	-0.9851	10	0.62326	D	0.03	1.1897	3.0327	0.06111	0.5493:0.188:0.1346:0.1281	.	1030;990	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	V	990;1060;1030;1030	ENSP00000260753:G990V;ENSP00000411545:G1060V;ENSP00000377830:G1030V;ENSP00000360793:G1030V	ENSP00000260753:G990V	G	+	2	0	KIF20B	91487667	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.229000	0.17833	-0.619000	0.05648	0.591000	0.81541	GGT			0.343	KIF20B-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000049330.1		NM_016195		T	91497687	G	T	91497687	3	4	104	1	0	0	0	0	1	0	0	0	8302	1261	44	3	3043	3	KIF20B	10	91497687	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	15643476	91497687	44037060	35	7774											
MUC5B	727897	mdanderson.org	37	chr11	1247926	1247926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgacggcgacgtcttccGcttccctggcctttgcaact	4	12	9	16	5	1	0	0	0	1	0	4	2	3	0	3	2	2	2	3	2	1	4			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:1247926G>A	ENST00000529681.1	+	4	339	c.281G>A	c.(280-282)cGc>cAc	p.R94H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R94H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	94	VWFD 1. {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)		GACGTCTTCCGCTTCCCTGGC	0.647																																					p.R94H													MUC5B,colon,carcinoma,+1,2	MUC5B	1	2	0			c.G281A												41	43	42					11																	1247926		2150	4262	6412	SO:0001583	missense	727897	exon4			TCTTCCGCTTCCC	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.281G>A	11.37:g.1247926G>A	ENSP00000436812:p.Arg94His		89	0	0		52	0.06	3	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125620	0.37533	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.59906	0.23;0.23	3.68	3.68	0.42216	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.40145	0.1105	N	0.10916	0.065	0.31539	N	0.660231	P;D;D	0.53745	0.613;0.962;0.962	B;P;P	0.45506	0.101;0.483;0.483	T	0.48514	-0.9029	9	0.87932	D	0	.	7.9703	0.30124	0.0932:0.1639:0.743:0.0	.	94;750;94	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	H	94;94;94;127	ENSP00000436812:R94H;ENSP00000415793:R94H	ENSP00000343037:R94H	R	+	2	0	MUC5B	1204502	0.984000	0.35163	1.000000	0.80357	0.918000	0.54935	0.915000	0.28638	1.896000	0.54893	0.561000	0.74099	CGC			0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093		A	1247926	G	A	1247926	3	1	104	1	0	0	0	0	1	0	0	0	9995	1087	38	1	295	1	MUC5B	11	1247926	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		1247926	133758590	36	7775											
DUSP8	1850	mdanderson.org	37	chr11	1579076	1579076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgatgtaggcgatggCgatggtggcagagcgggaga	9	8	18	6	3	1	3	1	1	0	2	1	6	1	3	0	5	1	2	0	5	1	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:1579076C>T	ENST00000397374.3	-	6	896	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.A257T	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	257	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|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)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		TAGGCGATGGCGATGGTGGCA	0.622																																					p.A257T													.	.			0			c.G769A												142	126	131					11																	1579076		2202	4299	6501	SO:0001583	missense	1850	exon6			CGATGGCGATGGT		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.769G>A	11.37:g.1579076C>T	ENSP00000380530:p.Ala257Thr		65	0	0		49	0.06	3	NM_004420	5	0	0	Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144043	0.94603	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.61510	0.1;0.1	3.42	3.42	0.39159	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	U	0.000002	T	0.69913	0.3164	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71560	-0.4556	10	0.44086	T	0.13	.	15.0112	0.71552	0.0:1.0:0.0:0.0	.	257	Q13202	DUS8_HUMAN	T	257	ENSP00000380530:A257T;ENSP00000329539:A257T	ENSP00000329539:A257T	A	-	1	0	DUSP8	1535652	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.495000	0.66912	1.739000	0.51704	0.313000	0.20887	GCC			0.622	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257178.3		NM_004420		T	1579076	C	T	1579076	3	4	104	1	0	0	0	0	1	0	0	0	4836	768	27	1	1116	1	DUSP8	11	1579076	Missense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	331150	1579076	133427440	37	7776											
ART5	116969	mdanderson.org	37	chr11	3661510	3661510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctttagcaggggggctGccttctcctccatctcctct	3	13	8	17	0	3	0	0	0	3	0	7	0	5	0	6	3	2	2	6	3	1	3			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:3661510G>A	ENST00000397068.3	-	2	541	c.149C>T	c.(148-150)gCa>gTa	p.A50V	TRPC2_ENST00000526541.1_RNA|ART5_ENST00000359918.4_Missense_Mutation_p.A50V|ART5_ENST00000397067.3_Missense_Mutation_p.A50V	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	50					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGGGGCTGCCTTCTCCTC	0.632																																					p.A50V													.	.			0			c.C149T												37	36	36					11																	3661510		2200	4298	6498	SO:0001583	missense	116969	exon3			GGGGCTGCCTTCT	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.149C>T	11.37:g.3661510G>A	ENSP00000380258:p.Ala50Val		99	0	0		60	0.08	5	NM_001079536	39	0	0	C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	ENST00000397068.3	37	CCDS7743.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207684	0.39003	.	.	ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918;ENST00000425767	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	6.07	5.16	0.70880	.	0.205916	0.45361	D	0.000374	T	0.08846	0.0219	L	0.39514	1.22	0.32140	N	0.585574	P;B	0.48089	0.905;0.117	P;B	0.49853	0.624;0.192	T	0.01574	-1.1321	10	0.02654	T	1	-11.7719	8.3212	0.32130	0.1614:0.0:0.8386:0.0	.	50;50	Q96L15-2;Q96L15	.;NAR5_HUMAN	V	50;50;50;29	ENSP00000380258:A50V;ENSP00000380257:A50V;ENSP00000352992:A50V;ENSP00000413852:A29V	ENSP00000352992:A50V	A	-	2	0	ART5	3618086	0.000000	0.05858	1.000000	0.80357	0.923000	0.55619	0.192000	0.17096	2.885000	0.99019	0.655000	0.94253	GCA			0.632	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032760.2		NM_053017		A	3661510	G	A	3661510	3	1	104	1	0	0	0	0	1	0	0	0	1000	1319	46	2	738	2	ART5	11	3661510	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	2082434	3661510	131345006	38	7777											
CCKBR	887	mdanderson.org	37	chr11	6290931	6290931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattagaatcactctttacGcagtgatcttcctgatgagc	10	13	7	11	1	3	4	1	3	2	1	4	4	4	4	2	0	2	1	2	0	3	4	rs141038981		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:6290931G>T	ENST00000334619.2	+	2	377	c.184G>T	c.(184-186)Gca>Tca	p.A62S	CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Missense_Mutation_p.A62S|CCKBR_ENST00000525014.1_Missense_Mutation_p.A62S	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	62					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)	CACTCTTTACGCAGTGATCTT	0.537																																					p.A62S													CCKBR_ENST00000525462,NS,carcinoma,-1,4	CCKBR_ENST00000525462	-1	4	0			c.G184T												106	93	97					11																	6290931		2201	4296	6497	SO:0001583	missense	887	exon2			CTTTACGCAGTGA	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.184G>T	11.37:g.6290931G>T	ENSP00000335544:p.Ala62Ser		88	0	0		46	0.07	3	NM_176875	2	0	0	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	2.301	-0.360261	0.05103	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.35973	1.28;1.28;1.28	4.61	2.71	0.32032	.	0.225760	0.37955	N	0.001877	T	0.19287	0.0463	N	0.19112	0.55	0.36434	D	0.865094	P;B	0.38800	0.648;0.003	B;B	0.36959	0.237;0.005	T	0.11743	-1.0575	10	0.42905	T	0.14	.	4.1711	0.10331	0.0875:0.158:0.5914:0.1631	.	62;62	P32239-2;P32239	.;GASR_HUMAN	S	62	ENSP00000335544:A62S;ENSP00000437001:A62S;ENSP00000435534:A62S	ENSP00000335544:A62S	A	+	1	0	CCKBR	6247507	0.000000	0.05858	0.364000	0.25888	0.859000	0.49053	0.371000	0.20450	0.550000	0.28991	0.563000	0.77884	GCA			0.537	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257230.2		NM_176875		T	6290931	G	T	6290931	3	4	104	1	0	0	0	0	1	0	0	0	2883	1087	38	1	190	1	CCKBR	11	6290931	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	2629421	6290931	128715585	39	7778											
STX5	6811	mdanderson.org	37	chr11	62594629	62594629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggctagtagctcacctGtttgatgatatatgttagct	9	16	10	6	0	1	3	1	3	0	0	1	3	1	3	1	1	2	6	1	1	5	6			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:62594629G>T	ENST00000294179.3	-	5	574	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	STX5_ENST00000377897.4_Missense_Mutation_p.Q141K|STX5_ENST00000394690.1_Missense_Mutation_p.Q87K|STX5_ENST00000541317.1_Missense_Mutation_p.Q45K	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	141					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TAGCTCACCTGTTTGATGATA	0.453																																					p.Q141K													.	.			0			c.C421A												90	78	82					11																	62594629		2201	4299	6500	SO:0001583	missense	6811	exon5			TCACCTGTTTGAT	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"syntaxin 5A"	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.421C>A	11.37:g.62594629G>T	ENSP00000294179:p.Gln141Lys		61	0	0		32	0.09	3	NM_003164	27	0	0	B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	34	5.332500	0.95733	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.47	5.47	0.80525	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.60957	1.885	0.80722	D	1	P;P	0.52316	0.941;0.952	P;P	0.58820	0.761;0.846	T	0.01323	-1.1385	10	0.19590	T	0.45	0.3268	16.8262	0.85931	0.0:0.0:1.0:0.0	.	141;141	F8W8Q9;Q13190	.;STX5_HUMAN	K	141;141;87;45	ENSP00000367129:Q141K;ENSP00000294179:Q141K;ENSP00000378182:Q87K;ENSP00000441428:Q45K	ENSP00000294179:Q141K	Q	-	1	0	STX5	62351205	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.330000	0.96422	2.571000	0.86741	0.655000	0.94253	CAG			0.453	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000290113.1		NM_003164		T	62594629	G	T	62594629	3	4	104	1	0	0	0	0	1	0	0	0	15371	1386	48	3	674	3	STX5	11	62594629	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	56303698	62594629	72411887	40	7779											
NRXN2	9379	mdanderson.org	37	chr11	64428409	64428409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaggccccggaggtctcgGctacgcccatctatgaagag	8	6	13	14	3	2	2	0	1	2	1	3	3	2	3	4	4	1	1	4	4	3	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:64428409G>T	ENST00000377551.1	-	9	2212	c.2001C>A	c.(1999-2001)agC>agA	p.S667R	NRXN2_ENST00000409571.1_Missense_Mutation_p.S660R|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.S667R|NRXN2_ENST00000377559.3_Missense_Mutation_p.S636R|NRXN2_ENST00000496291.1_5'UTR			Q9P2S2	NRX2A_HUMAN	neurexin 2	667	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						GGAGGTCTCGGCTACGCCCAT	0.692																																					p.S667R													.	.			0			c.C2001A												37	37	37					11																	64428409		2201	4297	6498	SO:0001583	missense	9379	exon10			GTCTCGGCTACGC		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.2001C>A	11.37:g.64428409G>T	ENSP00000366774:p.Ser667Arg		67	0	0		46	0.09	4	NM_015080	82	0	0	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144007	0.77888	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.52	1.51	0.23008	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.50627	U	0.000107	T	0.80513	0.4637	M	0.63428	1.95	0.50467	D	0.99987	D;D;D	0.76494	0.999;0.998;0.972	D;D;P	0.75020	0.985;0.957;0.635	T	0.78879	-0.2030	10	0.87932	D	0	.	7.7581	0.28936	0.3022:0.0:0.6978:0.0	.	636;667;413	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	R	667;636;667;636;660	ENSP00000366774:S667R;ENSP00000366782:S636R;ENSP00000265459:S667R;ENSP00000386416:S660R	ENSP00000265459:S667R	S	-	3	2	NRXN2	64184985	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	2.669000	0.46825	0.521000	0.28445	0.555000	0.69702	AGC			0.692	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104967.3		NM_015080		T	64428409	G	T	64428409	3	4	104	1	0	0	0	0	1	0	0	0	10683	1194	42	2	3462	2	NRXN2	11	64428409	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	1833780	64428409	70578107	41	7780											
ATG2A	23130	mdanderson.org	37	chr11	64668089	64668089	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagctcctgggacctgagagGccagttcttgccctgggaag	7	8	15	11	0	1	1	0	1	1	1	2	5	2	3	4	3	2	2	4	3	1	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:64668089G>T	ENST00000377264.3	-	31	4453	c.4341C>A	c.(4339-4341)ggC>ggA	p.G1447G	ATG2A_ENST00000421419.2_Silent_p.G1449G	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1447					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						GACCTGAGAGGCCAGTTCTTG	0.672																																					p.G1447G													.	.			0			c.C4341A												26	36	32					11																	64668089		2201	4297	6498	SO:0001819	synonymous_variant	23130	exon31			TGAGAGGCCAGTT		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.4341C>A	11.37:g.64668089G>T			28	0	0		23	0.13	3	NM_015104	228	0	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	3.765	-0.048783	0.07407	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.46	3.53	0.40419	.	.	.	.	.	T	0.62454	0.2429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60682	-0.7215	4	.	.	.	.	11.739	0.51781	0.0:0.0:0.8221:0.1779	.	.	.	.	T	1251	.	.	P	-	1	0	ATG2A	64424665	0.994000	0.37717	0.893000	0.35052	0.451000	0.32288	2.986000	0.49370	1.214000	0.43395	0.561000	0.74099	CCT			0.672	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000143224.1		NM_015104		T	64668089	G	T	64668089	2	4	104	1	0	0	0	0	0	0	0	1	1093	1190	42	2		2	ATG2A	11	64668089	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	239680	64668089	70338427	42	7781											
SPTBN2	6712	mdanderson.org	37	chr11	66468434	66468434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgaggtcctcccagcCggtctgcacctctctcagcc	4	8	10	19	1	3	1	1	1	2	0	6	1	5	1	6	3	3	1	6	3	0	0	rs199703911		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:66468434C>A	ENST00000533211.1	-	17	3467	c.3136G>T	c.(3136-3138)Ggc>Tgc	p.G1046C	SPTBN2_ENST00000309996.2_Missense_Mutation_p.G1046C|SPTBN2_ENST00000529997.1_Missense_Mutation_p.G1046C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1046					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						TCCTCCCAGCCGGTCTGCACC	0.687																																					p.G1046C													.	.			0			c.G3136T												23	26	25					11																	66468434		2199	4289	6488	SO:0001583	missense	6712	exon16			CCCAGCCGGTCTG	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.3136G>T	11.37:g.66468434C>A	ENSP00000432568:p.Gly1046Cys		35	0	0		16	0.13	2	NM_006946	14	0	0	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.692970	0.48202	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35421	1.31;1.31;1.31	4.7	2.82	0.32997	.	0.125201	0.53938	D	0.000050	T	0.33294	0.0858	N	0.12182	0.205	0.35170	D	0.77148	D	0.67145	0.996	D	0.63488	0.915	T	0.44112	-0.9349	10	0.56958	D	0.05	.	6.4865	0.22091	0.0:0.6297:0.0:0.3703	.	1046	O15020	SPTN2_HUMAN	C	1046	ENSP00000432568:G1046C;ENSP00000311489:G1046C;ENSP00000433593:G1046C	ENSP00000311489:G1046C	G	-	1	0	SPTBN2	66225010	0.932000	0.31603	0.608000	0.28969	0.600000	0.36913	3.924000	0.56476	0.595000	0.29777	0.491000	0.48974	GGC			0.687	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393892.2		NM_006946		A	66468434	C	A	66468434	3	1	104	1	0	0	0	0	1	0	0	0	15143	652	23	1	4124	1	SPTBN2	11	66468434	Missense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	1800345	66468434	68538082	43	7782											
RHOD	29984	mdanderson.org	37	chr11	66837951	66837951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatcatcgtcgtgggctGcaagactgacctgtgcaagg	9	8	12	12	2	1	2	1	1	0	1	3	2	1	2	2	2	2	3	2	2	2	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:66837951G>T	ENST00000308831.2	+	4	471	c.386G>T	c.(385-387)tGc>tTc	p.C129F	RHOD_ENST00000533360.1_3'UTR|RHOD_ENST00000532559.1_Missense_Mutation_p.C63F	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	129					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						GTCGTGGGCTGCAAGACTGAC	0.572																																					p.C129F													.	.			0			c.G386T												116	96	103					11																	66837951		2200	4295	6495	SO:0001583	missense	29984	exon4			TGGGCTGCAAGAC	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.386G>T	11.37:g.66837951G>T	ENSP00000308576:p.Cys129Phe		72	0	0		50	0.06	3	NM_014578	15	0	0		Missense_Mutation	SNP	ENST00000308831.2	37	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816217	0.70912	.	.	ENSG00000173156	ENST00000308831;ENST00000532559	T;T	0.69806	-0.43;-0.43	4.75	4.75	0.60458	Small GTP-binding protein domain (1);	0.000000	0.52532	D	0.000073	D	0.83880	0.5350	M	0.89601	3.045	0.46317	D	0.998983	D	0.76494	0.999	D	0.87578	0.998	D	0.86944	0.2081	10	0.87932	D	0	-2.2271	13.1331	0.59393	0.0:0.0:1.0:0.0	.	129	O00212	RHOD_HUMAN	F	129;63	ENSP00000308576:C129F;ENSP00000432003:C63F	ENSP00000308576:C129F	C	+	2	0	RHOD	66594527	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.791000	0.55469	2.471000	0.83476	0.655000	0.94253	TGC			0.572	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393136.1		NM_014578		T	66837951	G	T	66837951	3	4	104	1	0	0	0	0	1	0	0	0	13360	1319	46	2	400	2	RHOD	11	66837951	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	369517	66837951	68168565	44	7783											
ALG8	79053	bcgsc.ca;mdanderson.org	37	chr11	77825007	77825007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggaaataacacgaacaaaGctgaaactcttccatcgaat	18	7	7	9	2	1	1	0	1	1	0	3	4	2	2	1	1	4	1	1	1	6	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:77825007G>T	ENST00000299626.5	-	7	773	c.702C>A	c.(700-702)agC>agA	p.S234R	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Missense_Mutation_p.S234R	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	234					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|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)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CACGAACAAAGCTGAAACTCT	0.383																																					p.S234R													.	ALG8	54		0			c.C702A												110	88	96					11																	77825007		2198	4291	6489	SO:0001583	missense	79053	exon7			AACAAAGCTGAAA	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.702C>A	11.37:g.77825007G>T	ENSP00000299626:p.Ser234Arg		184	0	0		87	0.06	5	NM_024079	34	0	0	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.529|4.529	0.098230|0.098230	0.08681|0.08681	.|.	.|.	ENSG00000159063|ENSG00000159063	ENST00000532306;ENST00000529139|ENST00000299626;ENST00000376156;ENST00000532440;ENST00000525755;ENST00000530454;ENST00000525870	.|D;D;D;D;D;D	.|0.83419	.|-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.87|4.87	1.98|1.98	0.26296|0.26296	.|.	.|0.164627	.|0.64402	.|D	.|0.000003	T|T	0.67748|0.67748	0.2926|0.2926	N|N	0.17723|0.17723	0.515|0.515	0.50039|0.50039	D|D	0.999848|0.999848	.|B;B;B	.|0.14438	.|0.01;0.002;0.006	.|B;B;B	.|0.16289	.|0.013;0.011;0.015	T|T	0.54370|0.54370	-0.8304|-0.8304	5|10	.|0.18276	.|T	.|0.48	-2.2089|-2.2089	10.303|10.303	0.43663|0.43663	0.2087:0.0:0.7913:0.0|0.2087:0.0:0.7913:0.0	.|.	.|234;234;234	.|B3KQL8;Q9BVK2;A6NDW6	.|.;ALG8_HUMAN;.	D|R	108;79|234;234;52;183;235;146	.|ENSP00000299626:S234R;ENSP00000365326:S234R;ENSP00000433429:S52R;ENSP00000435467:S183R;ENSP00000434660:S235R;ENSP00000435417:S146R	.|ENSP00000299626:S234R	A|S	-|-	2|3	0|2	ALG8|ALG8	77502655|77502655	0.999000|0.999000	0.42202|0.42202	0.269000|0.269000	0.24586|0.24586	0.168000|0.168000	0.22595|0.22595	1.279000|1.279000	0.33191|0.33191	0.348000|0.348000	0.23949|0.23949	0.655000|0.655000	0.94253|0.94253	GCT|AGC			0.383	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390637.1		NM_024079		T	77825007	G	T	77825007	3	4	104	1	0	0	0	0	1	0	0	0	523	962	34	2	965	2	ALG8	11	77825007	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	10987056	77825007	57181509	45	7784											
ALG9	79796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	111728380	111728380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgctactcccagcaCagcaatggaagtcttgtcca	10	8	8	15	0	1	0	0	0	1	0	3	1	3	1	3	1	5	4	3	1	3	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:111728380C>T	ENST00000531154.1	-	6	605	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.V45M	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	216					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		ACTCCCAGCACAGCAATGGAA	0.468																																					p.V216M													.	.			0			c.G646A												83	80	81					11																	111728380		1974	4175	6149	SO:0001583	missense	79796	exon7			CCAGCACAGCAAT		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.133G>A	11.37:g.111728380C>T	ENSP00000435517:p.Val45Met		75	0	0		37	0.38	14	NM_001077690	28	0.75	21	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644134	0.87859	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.64803	-0.12;-0.12	5.98	5.98	0.97165	.	0.111909	0.64402	D	0.000016	T	0.77350	0.4117	L	0.59436	1.845	0.58432	D	0.999997	D;P;D;D	0.71674	0.997;0.915;0.998;0.96	D;P;D;P	0.72338	0.944;0.697;0.977;0.856	T	0.73126	-0.4081	10	0.38643	T	0.18	-5.6364	20.4366	0.99092	0.0:1.0:0.0:0.0	.	45;216;449;216	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	M	45;45;449	ENSP00000435517:V45M;ENSP00000381090:V45M	ENSP00000381090:V45M	V	-	1	0	ALG9	111233590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.006000	0.57083	2.843000	0.97960	0.585000	0.79938	GTG			0.468	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000391485.1		NM_024740		T	111728380	C	T	111728380	3	4	104	1	0	0	0	0	1	0	0	0	524	478	17	3	1250	3	ALG9	11	111728380	Missense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	33903373	111728380	23278136	46	7785											
CEP164	22897	bcgsc.ca	37	chr11	117263330	117263330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagtcttatcacgtggctgGgtatgagcacgaggtgagtg	9	10	16	6	2	2	2	1	2	1	0	2	4	2	2	0	3	1	3	0	3	3	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:117263330G>T	ENST00000278935.3	+	19	2627	c.2480G>T	c.(2479-2481)gGg>gTg	p.G827V	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	827	Glu-rich.				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)		CACGTGGCTGGGTATGAGCAC	0.562																																					p.G830V													.	CEP164	121		0			c.G2489T												148	140	143					11																	117263330		2201	4296	6497	SO:0001583	missense	22897	exon18			TGGCTGGGTATGA	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.2480G>T	11.37:g.117263330G>T	ENSP00000278935:p.Gly827Val		119	0	0		48	0.08	4	NM_001271933	12	0	0	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704271	0.15172	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.39997	1.05	4.52	3.38	0.38709	.	0.373597	0.23046	N	0.052544	T	0.24392	0.0591	N	0.08118	0	0.41278	D	0.986893	B;B;B;B	0.23650	0.089;0.062;0.027;0.027	B;B;B;B	0.29353	0.075;0.101;0.047;0.047	T	0.08371	-1.0725	10	0.72032	D	0.01	-6.8028	8.9342	0.35688	0.9144:0.0:0.0856:0.0	.	801;601;827;830	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	V	827;801;708	ENSP00000278935:G827V	ENSP00000278935:G827V	G	+	2	0	CEP164	116768540	1.000000	0.71417	0.881000	0.34555	0.137000	0.21094	2.877000	0.48506	0.758000	0.33059	-0.415000	0.06103	GGG			0.562	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392893.1		NM_014956		T	117263330	G	T	117263330	3	4	104	1	0	0	0	0	1	0	0	0	3251	1232	43	3	2546	3	CEP164	11	117263330	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	5534950	117263330	17743186	47	7786											
VSIG2	23584	mdanderson.org	37	chr11	124621416	124621416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtaggtgcaggtcagctcgGctgtcttccccaggggcgtg	4	10	16	11	2	2	0	1	0	1	0	4	0	3	0	2	5	2	4	2	5	1	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:124621416G>T	ENST00000326621.5	-	2	222	c.122C>A	c.(121-123)gCc>gAc	p.A41D	VSIG2_ENST00000403470.1_Missense_Mutation_p.A41D	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	41	Ig-like V-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)		GGTCAGCTCGGCTGTCTTCCC	0.647																																					p.A41D													.	.			0			c.C122A												84	65	72					11																	124621416		2201	4299	6500	SO:0001583	missense	23584	exon2			AGCTCGGCTGTCT	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.122C>A	11.37:g.124621416G>T	ENSP00000318684:p.Ala41Asp		34	0	0		20	0.15	3	NM_014312	3	0	0	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892417	0.52121	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.69040	-0.37;-0.37	4.62	3.68	0.42216	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.326553	0.25836	N	0.027991	T	0.77226	0.4099	M	0.79123	2.44	0.20489	N	0.999891	D	0.69078	0.997	D	0.68039	0.955	T	0.66822	-0.5826	10	0.72032	D	0.01	.	7.3778	0.26839	0.1843:0.0:0.8157:0.0	.	41	Q96IQ7	VSIG2_HUMAN	D	41	ENSP00000318684:A41D;ENSP00000385013:A41D	ENSP00000318684:A41D	A	-	2	0	VSIG2	124126626	0.037000	0.19845	0.561000	0.28357	0.468000	0.32798	1.088000	0.30877	2.388000	0.81334	0.655000	0.94253	GCC			0.647	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317785.1		NM_014312		T	124621416	G	T	124621416	3	4	104	1	0	0	0	0	1	0	0	0	17248	1203	42	2	885	2	VSIG2	11	124621416	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	7358086	124621416	10385100	48	7787											
MAGOHB	55110	broad.mit.edu	37	chr12	10762454	10762454	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaaccctatcagggggAggccacaaagcatcatcttc	11	6	10	14	1	3	0	2	0	1	0	4	1	3	1	3	4	2	1	3	4	3	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:10762454A>G	ENST00000320756.2	-	3	330	c.240T>C	c.(238-240)ccT>ccC	p.P80P	MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_Silent_p.P34P	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	80					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						TATCAGGGGGAGGCCACAAAG	0.323																																					p.P80P													.	MAGOHB	17		0			c.T240C												111	110	110					12																	10762454		2203	4300	6503	SO:0001819	synonymous_variant	55110	exon3			AGGGGGAGGCCAC		CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.240T>C	12.37:g.10762454A>G			74	0	0		125	0.03	4	NM_018048	240	0	0		Silent	SNP	ENST00000320756.2	37	CCDS8628.1																																																																																					0.323	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399616.1		NM_018048		G	10762454	A	G	10762454	2	3	104	1	0	0	0	0	0	0	0	1	9211	291	11	4		4	MAGOHB	12	10762454	Silent	SNP	A	TCGA-WZ-A7V3-01A-11D-A435-10		10762454	123089441	49	7788											
DDX11	1663	ucsc.edu	37	chr12	31244689	31244689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagatgctgctgcatgcgGccactcggcaggccgcgggc	6	6	15	14	4	1	1	1	0	0	1	2	1	1	1	2	4	4	4	2	4	0	0	rs397842879		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:31244689G>A	ENST00000407793.2	+	10	1377	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	DDX11_ENST00000228264.6_Missense_Mutation_p.A350T|DDX11_ENST00000350437.4_Missense_Mutation_p.A376T|DDX11_ENST00000545668.1_Missense_Mutation_p.A376T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.A376T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	376	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGCATGCGGCCACTCGGCA	0.672										Multiple Myeloma(12;0.14)																											p.A376T													.	DDX11	188		0			c.G1126A												26	25	26					12																	31244689		2194	4289	6483	SO:0001583	missense	1663	exon10			CATGCGGCCACTC	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1126G>A	12.37:g.31244689G>A	ENSP00000384703:p.Ala376Thr		112	0.0982142857	11		173	0.13	23	NM_030653	138	0.26	36	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	7.984	0.751761	0.15778	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.71461	-0.57;1.0;-0.57;1.0;1.0	3.05	3.05	0.35203	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.324166	0.32703	N	0.005754	T	0.68109	0.2965	L	0.55834	1.745	0.80722	D	1	P;P;D;P;P	0.59767	0.633;0.814;0.986;0.814;0.905	P;B;P;B;B	0.49799	0.507;0.313;0.622;0.294;0.392	T	0.69300	-0.5181	10	0.56958	D	0.05	.	7.318	0.26511	0.0:0.0:0.738:0.262	.	101;350;376;376;376	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	T	376;376;101;350;376;376	ENSP00000443426:A376T;ENSP00000384703:A376T;ENSP00000228264:A350T;ENSP00000440402:A376T;ENSP00000309965:A376T	ENSP00000228264:A350T	A	+	1	0	DDX11	31135956	0.935000	0.31712	0.573000	0.28510	0.048000	0.14542	1.665000	0.37449	1.535000	0.49220	0.505000	0.49811	GCC			0.672	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653		A	31244689	G	A	31244689	3	1	104	1	0	0	0	0	1	0	0	0	4345	1203	42	2	1160	2	DDX11	12	31244689	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	20482235	31244689	102607206	50	7789											
ACCN2	41	broad.mit.edu;mdanderson.org	37	chr12	50471790	50471790	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattcccctagacgagacGtccttcgaagcaggcatcaa	11	8	8	14	3	2	2	2	0	0	2	5	4	4	2	3	1	1	2	3	1	3	3	rs149521223	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:50471790G>T	ENST00000447966.2	+	5	946	c.717G>T	c.(715-717)acG>acT	p.T239T	ASIC1_ENST00000552438.1_Silent_p.T273T|ASIC1_ENST00000228468.4_Silent_p.T239T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	239					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TAGACGAGACGTCCTTCGAAG	0.567																																					p.T273T													ACCN2,NS,carcinoma,0,1	.		1	0			c.G819T												160	129	139					12																	50471790		2203	4300	6503	SO:0001819	synonymous_variant	41	exon3			CGAGACGTCCTTC	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.717G>T	12.37:g.50471790G>T			72	0	0		77	0.05	4	NM_001256830	13	0	0	A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	8.941	0.965840	0.18583	.	.	ENSG00000110881	ENST00000453327	.	.	.	4.18	-1.42	0.08913	.	.	.	.	.	T	0.40067	0.1102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	-10.8698	1.7327	0.02935	0.3697:0.3152:0.1972:0.1179	.	.	.	.	L	107	.	.	R	+	2	0	ACCN2	48758057	0.130000	0.22417	0.997000	0.53966	0.966000	0.64601	-0.452000	0.06787	-0.083000	0.12618	-0.300000	0.09419	CGT			0.567	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406004.2		NM_020039		T	50471790	G	T	50471790	2	4	104	1	0	0	0	0	0	0	0	1	129	1132	40	1		1	ACCN2	12	50471790	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	19227101	50471790	83380105	51	7790											
KRT82	3888	mdanderson.org	37	chr12	52790015	52790015	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaccctcaagtttgcagCgctgtgggaggggcgcagaa	8	7	16	10	2	1	1	1	0	0	1	1	2	1	2	1	4	2	5	1	4	2	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:52790015C>T	ENST00000257974.2	-	7	1147	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	357	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AAGTTTGCAGCGCTGTGGGAG	0.642																																					p.R357H													.	.			0			c.G1070A												23	20	21					12																	52790015		2203	4300	6503	SO:0001630	splice_region_variant	3888	exon7			TTGCAGCGCTGTG	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1069-1G>A	12.37:g.52790015C>T			24	0	0		18	0.11	2	NM_033033	0		0		Missense_Mutation	SNP	ENST00000257974.2	37	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803312	0.31869	.	.	ENSG00000161850	ENST00000257974	D	0.89415	-2.51	4.61	4.61	0.57282	Filament (1);	0.000000	0.49305	D	0.000157	D	0.92990	0.7769	M	0.83384	2.64	0.32570	N	0.52986	D	0.89917	1.0	D	0.71870	0.975	D	0.93009	0.6430	10	0.54805	T	0.06	.	6.7441	0.23453	0.0:0.7248:0.1807:0.0944	.	357	Q9NSB4	KRT82_HUMAN	H	357	ENSP00000257974:R357H	ENSP00000257974:R357H	R	-	2	0	KRT82	51076282	0.003000	0.15002	0.998000	0.56505	0.299000	0.27559	0.360000	0.20250	2.566000	0.86566	0.561000	0.74099	CGC			0.642	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405189.1		NM_033033	Missense_Mutation	T	52790015	C	T	52790015	5	4	104	1	0	0	0	0	0	0	1	0	8511	782	27	1	483	1	KRT82	12	52790015	Splice_Site	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	2318225	52790015	81061880	52	7791											
NTN4	59277	broad.mit.edu	37	chr12	96180865	96180865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcccaaagtcctgggagCggtccagcaccatggcagcc	8	8	11	14	1	0	0	0	0	0	0	3	1	3	1	5	3	3	2	5	3	1	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:96180865C>T	ENST00000343702.4	-	2	885	c.437G>A	c.(436-438)cGc>cAc	p.R146H	NTN4_ENST00000344911.4_Missense_Mutation_p.R109H|NTN4_ENST00000538383.1_Missense_Mutation_p.R109H|NTN4_ENST00000553059.1_Missense_Mutation_p.R146H	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	146	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						GTCCTGGGAGCGGTCCAGCAC	0.498																																					p.R146H													.	NTN4	67		0			c.G437A												75	75	75					12																	96180865		2203	4300	6503	SO:0001583	missense	59277	exon2			TGGGAGCGGTCCA	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.437G>A	12.37:g.96180865C>T	ENSP00000340998:p.Arg146His		112	0.0089285714	1		83	0.04	3	NM_021229	3	0	0	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982261	0.93044	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.62	5.62	0.85841	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95140	0.8425	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96096	0.9065	10	0.87932	D	0	.	19.6639	0.95886	0.0:1.0:0.0:0.0	.	146;146	Q9HB63-2;Q9HB63	.;NET4_HUMAN	H	146;109;109;146;109	ENSP00000340998:R146H;ENSP00000339436:R109H;ENSP00000444432:R109H;ENSP00000447292:R146H;ENSP00000447594:R109H	ENSP00000340998:R146H	R	-	2	0	NTN4	94704996	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.294000	0.78760	2.650000	0.89964	0.555000	0.69702	CGC			0.498	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408372.1		NM_021229		T	96180865	C	T	96180865	3	4	104	1	0	0	0	0	1	0	0	0	10719	768	27	1	1485	1	NTN4	12	96180865	Missense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	43390850	96180865	37671030	53	7792											
SACS	26278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	23909357	23909357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgaatccagtgcaaaGtggccattcacatgaaatgg	12	9	11	9	0	1	2	1	2	0	0	2	2	2	2	2	3	1	2	2	3	3	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr13:23909357G>C	ENST00000382292.3	-	9	8931	c.8658C>G	c.(8656-8658)caC>caG	p.H2886Q	SACS_ENST00000382298.3_Missense_Mutation_p.H2886Q|SACS_ENST00000402364.1_Missense_Mutation_p.H2136Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2886					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)		CCAGTGCAAAGTGGCCATTCA	0.443																																					p.H2886Q													.	.			0			c.C8658G												65	66	66					13																	23909357		2203	4299	6502	SO:0001583	missense	26278	exon10			TGCAAAGTGGCCA	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.8658C>G	13.37:g.23909357G>C	ENSP00000371729:p.His2886Gln		100	0	0		82	0.33	27	NM_014363	19	0.47	9	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461225	0.63513	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87412	-2.11;-2.25;-2.11	5.4	3.65	0.41850	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	L	0.50333	1.59	0.34794	D	0.736049	D	0.76494	0.999	D	0.78314	0.991	D	0.89650	0.3869	10	0.33940	T	0.23	.	9.7552	0.40500	0.2164:0.0:0.7836:0.0	.	2886	Q9NZJ4	SACS_HUMAN	Q	2886;2136;2886	ENSP00000371729:H2886Q;ENSP00000385844:H2136Q;ENSP00000371735:H2886Q	ENSP00000371729:H2886Q	H	-	3	2	SACS	22807357	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.608000	0.36847	0.628000	0.30357	0.555000	0.69702	CAC			0.443	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044148.3		NM_014363		C	23909357	G	C	23909357	3	2	104	1	0	0	0	0	1	0	0	0	13827	1020	36	5	5085	5	SACS	13	23909357	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		23909357	91260521	54	7793											
KIF26A	26153	mdanderson.org	37	chr14	104643748	104643748	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagcagccccacgggccggGcccagtgtcggggcgaaggc	7	2	18	14	4	0	1	0	0	0	1	1	2	0	1	4	5	2	1	4	5	1	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr14:104643748G>T	ENST00000423312.2	+	12	4623	c.4623G>T	c.(4621-4623)ggG>ggT	p.G1541G	KIF26A_ENST00000315264.7_Silent_p.G1402G	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1541					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CACGGGCCGGGCCCAGTGTCG	0.721																																					p.G1541G													.	.			0			c.G4623T												3	5	4					14																	104643748		1666	3757	5423	SO:0001819	synonymous_variant	26153	exon12			GGCCGGGCCCAGT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4623G>T	14.37:g.104643748G>T			12	0	0		19	0.11	2	NM_015656	172	0.01	1	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																					0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414356.1				T	104643748	G	T	104643748	2	4	104	1	0	0	0	0	0	0	0	1	8309	1190	42	2		2	KIF26A	14	104643748	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		104643748	2705792	55	7794											
GABRB3	2562	mdanderson.org	37	chr15	26812790	26812790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacacccacgacagaatcGttatcagtatagagggcata	15	7	10	9	2	1	2	1	0	0	2	2	4	1	3	1	2	0	3	1	2	5	4			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:26812790G>T	ENST00000311550.5	-	7	884	c.773C>A	c.(772-774)aCg>aAg	p.T258K	GABRB3_ENST00000299267.4_Missense_Mutation_p.T258K|GABRB3_ENST00000541819.2_Missense_Mutation_p.T314K|GABRB3_ENST00000545868.1_Missense_Mutation_p.T173K|GABRB3_ENST00000400188.3_Missense_Mutation_p.T187K	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	258					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)	p.T258M(1)		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)	CGACAGAATCGTTATCAGTAT	0.408																																					p.T258K													GABRB3_ENST00000541819,colon,carcinoma,+1,7	GABRB3_ENST00000541819	1	7	1	Substitution - Missense(1)	large_intestine(1)	c.C773A												131	111	118					15																	26812790		2203	4300	6503	SO:0001583	missense	2562	exon7			AGAATCGTTATCA		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.773C>A	15.37:g.26812790G>T	ENSP00000308725:p.Thr258Lys		59	0	0		53	0.06	3	NM_021912	7	0	0	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567636	0.65651	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.995;0.998	D	0.93877	0.7167	10	0.87932	D	0	.	19.6125	0.95613	0.0:0.0:1.0:0.0	.	314;258;258	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	K	258;314;258;187;173	ENSP00000308725:T258K;ENSP00000442408:T314K;ENSP00000299267:T258K;ENSP00000383049:T187K;ENSP00000439169:T173K	ENSP00000299267:T258K	T	-	2	0	GABRB3	24363883	1.000000	0.71417	0.288000	0.24862	0.033000	0.12548	9.724000	0.98775	2.879000	0.98667	0.650000	0.86243	ACG			0.408	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251352.2				T	26812790	G	T	26812790	3	4	104	1	0	0	0	0	1	0	0	0	6181	1145	40	1	660	1	GABRB3	15	26812790	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		26812790	75718602	56	7795											
SPTBN5	51332	mdanderson.org	37	chr15	42177937	42177937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctggggctcacctgcGggccacatctgcccagctgt	5	9	13	14	1	2	0	1	0	1	0	2	0	2	0	3	3	4	3	3	3	0	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:42177937G>T	ENST00000320955.6	-	7	1743	c.1516C>A	c.(1516-1518)Cgc>Agc	p.R506S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	506					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)		GCTCACCTGCGGGCCACATCT	0.637																																					p.R471S													.	.			0			c.C1411A												13	16	15					15																	42177937		2121	4217	6338	SO:0001583	missense	51332	exon7			ACCTGCGGGCCAC	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.1516C>A	15.37:g.42177937G>T	ENSP00000317790:p.Arg506Ser		38	0	0		26	0.12	3	NM_016642	0		0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	G	9.064	0.995117	0.19043	.	.	ENSG00000137877	ENST00000320955	T	0.47177	0.85	4.19	-2.96	0.05547	.	1.033030	0.07705	N	0.941091	T	0.27134	0.0665	N	0.21448	0.665	0.09310	N	1	B	0.18461	0.028	B	0.27262	0.078	T	0.30119	-0.9989	10	0.08837	T	0.75	.	4.6927	0.12788	0.3256:0.0:0.453:0.2214	.	506	Q9NRC6	SPTN5_HUMAN	S	506	ENSP00000317790:R506S	ENSP00000317790:R506S	R	-	1	0	SPTBN5	39965229	0.000000	0.05858	0.172000	0.22920	0.932000	0.56968	-1.519000	0.02243	-0.969000	0.03573	-0.140000	0.14226	CGC			0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000420237.1		NM_016642		T	42177937	G	T	42177937	3	4	104	1	0	0	0	0	1	0	0	0	15145	1116	39	1	9756	1	SPTBN5	15	42177937	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	15365147	42177937	60353455	57	7796											
TTBK2	146057	mdanderson.org	37	chr15	43067340	43067340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaatttcttaccgctgtaAggggtccttctgcctgcgcc	7	12	9	13	2	2	0	0	0	2	0	3	0	3	0	4	2	3	2	4	2	3	4			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:43067340A>G	ENST00000267890.6	-	13	2099	c.1991T>C	c.(1990-1992)cTt>cCt	p.L664P		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	664					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)		TACCGCTGTAAGGGGTCCTTC	0.428																																					p.L664P													.	.			0			c.T1991C												75	71	72					15																	43067340		1832	4092	5924	SO:0001583	missense	146057	exon13			GCTGTAAGGGGTC	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.1991T>C	15.37:g.43067340A>G	ENSP00000267890:p.Leu664Pro		32	0	0		22	0.14	3	NM_173500	3	0	0	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045870	0.55110	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.55760	0.5	5.53	5.53	0.82687	.	0.159565	0.42964	D	0.000632	T	0.66819	0.2828	L	0.59436	1.845	0.80722	D	1	D;P	0.71674	0.998;0.783	P;P	0.61800	0.894;0.53	T	0.70432	-0.4873	10	0.87932	D	0	.	15.6764	0.77326	1.0:0.0:0.0:0.0	.	595;664	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	P	664;594;1069	ENSP00000267890:L664P	ENSP00000263802:L1069P	L	-	2	0	TTBK2	40854632	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	8.476000	0.90421	2.111000	0.64477	0.528000	0.53228	CTT			0.428	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000431106.2		NM_173500		G	43067340	A	G	43067340	3	3	104	1	0	0	0	0	1	0	0	0	16701	72	3	4	1755	4	TTBK2	15	43067340	Missense_Mutation	SNP	A	TCGA-WZ-A7V3-01A-11D-A435-10	889403	43067340	59464052	58	7797											
ZNF710	374655	mdanderson.org	37	chr15	90617483	90617483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgagccggcacatgaagGtcaagcatggcgtcatggac	11	6	13	11	2	2	2	2	2	0	0	2	3	2	3	2	4	2	2	2	4	2	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:90617483G>T	ENST00000268154.4	+	4	2037	c.1786G>T	c.(1786-1788)Gtc>Ttc	p.V596F	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	596					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)			GCACATGAAGGTCAAGCATGG	0.592																																					p.V596F													.	.			0			c.G1786T												55	48	50					15																	90617483		2200	4298	6498	SO:0001583	missense	374655	exon4			ATGAAGGTCAAGC	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.1786G>T	15.37:g.90617483G>T	ENSP00000268154:p.Val596Phe		62	0	0		46	0.07	3	NM_198526	61	0	0	A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595517	0.86953	.	.	ENSG00000140548	ENST00000268154	T	0.09911	2.93	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.211332	0.28583	N	0.014835	T	0.23965	0.0580	L	0.33753	1.03	0.53688	D	0.999973	D	0.76494	0.999	D	0.70016	0.967	T	0.00601	-1.1650	10	0.87932	D	0	-50.5813	17.485	0.87684	0.0:0.0:1.0:0.0	.	596	Q8N1W2	ZN710_HUMAN	F	596	ENSP00000268154:V596F	ENSP00000268154:V596F	V	+	1	0	ZNF710	88418487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.616000	0.74205	2.704000	0.92352	0.650000	0.86243	GTC			0.592	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313423.1		NM_198526		T	90617483	G	T	90617483	3	4	104	1	0	0	0	0	1	0	0	0	18138	1261	44	3	1796	3	ZNF710	15	90617483	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	47550143	90617483	11913909	59	7798											
SV2B	9899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	91810817	91810817	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctgtactgtgtgatgggGccctacagaatgaatacact	10	10	11	10	0	0	3	0	2	0	1	0	3	0	3	2	2	3	1	2	2	5	3	rs368688126		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:91810817G>T	ENST00000394232.1	+	8	1622	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	SV2B_ENST00000545111.2_Silent_p.G233G|SV2B_ENST00000330276.4_Silent_p.G384G	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	384					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGTGATGGGGCCCTACAGAA	0.453																																					p.G384G													.	.			0			c.G1152T												269	224	239					15																	91810817		2198	4298	6496	SO:0001819	synonymous_variant	9899	exon9			GATGGGGCCCTAC	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1152G>T	15.37:g.91810817G>T			192	0	0		133	0.29	39	NM_014848	1	1	1	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																					0.453	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313494.3		NM_014848		T	91810817	G	T	91810817	2	4	104	1	0	0	0	0	0	0	0	1	15441	1190	42	2		2	SV2B	15	91810817	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	1193334	91810817	10720575	60	7799											
CACNA1H	8912	broad.mit.edu	37	chr16	1245464	1245464	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcattttcgccttttttgcGgtggagatggtcatcaagat	7	17	10	7	2	3	2	3	0	0	2	4	3	3	2	1	3	1	0	1	3	1	6	rs560099947	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:1245464G>T	ENST00000348261.5	+	4	692	c.444G>T	c.(442-444)gcG>gcT	p.A148A	CACNA1H_ENST00000565831.1_Silent_p.A148A|CACNA1H_ENST00000358590.4_Silent_p.A148A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	148					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCTTTTTTGCGGTGGAGATGG	0.597													g|||	2	0.000399361	0	0	5008	,	,		9707	0.001		0	False		,,,				2504	0.001				p.A148A													.	CACNA1H	317		0			c.G444T												96	88	91					16																	1245464		2017	4172	6189	SO:0001819	synonymous_variant	8912	exon4			TTTTGCGGTGGAG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.444G>T	16.37:g.1245464G>T			156	0	0		63	0.05	3	NM_021098	4	0	0	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																					0.597	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421601.1		NM_001005407		T	1245464	G	T	1245464	2	4	104	1	0	0	0	0	0	0	0	1	2547	1103	39	1		1	CACNA1H	16	1245464	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		1245464	89109289	61	7800											
SPSB3	90864	mdanderson.org	37	chr16	1828458	1828458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtcttcctctccgcagcgGcagtccctgccccggtgggc	2	9	12	18	4	2	0	0	0	2	0	6	0	4	0	5	3	2	2	5	3	0	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:1828458G>A	ENST00000566339.1	-	3	612	c.282C>T	c.(280-282)tgC>tgT	p.C94C	SPSB3_ENST00000301717.4_Silent_p.C94C	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	94	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTCCGCAGCGGCAGTCCCTGC	0.716																																					p.C94C													.	.			0			c.C282T												19	23	22					16																	1828458		2196	4292	6488	SO:0001819	synonymous_variant	90864	exon3			GCAGCGGCAGTCC		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.282C>T	16.37:g.1828458G>A			45	0	0		35	0.09	3	NM_080861	119	0	0	D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	CCDS32365.1																																																																																					0.716	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433512.1		NM_080861		A	1828458	G	A	1828458	2	1	104	1	0	0	0	0	0	0	0	1	15137	1195	42	2		2	SPSB3	16	1828458	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	582994	1828458	88526295	62	7801											
C16orf89	146556	hgsc.bcm.edu	37	chr16	5106086	5106086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgtcccgggtagggtagGcgtatccgatggcctcagct	7	9	15	10	3	1	1	1	0	0	1	3	2	3	1	3	4	1	4	3	4	3	3			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:5106086G>T	ENST00000315997.5	-	5	932	c.731C>A	c.(730-732)gCc>gAc	p.A244D	C16orf89_ENST00000472572.3_Missense_Mutation_p.A244D|C16orf89_ENST00000474471.3_Missense_Mutation_p.A244D|C16orf89_ENST00000350219.4_Missense_Mutation_p.A282D|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.A282D	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	244						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGTAGGGTAGGCGTATCCGAT	0.572																																					p.A244D													.	.			0			c.C731A												125	122	123					16																	5106086		2056	4220	6276	SO:0001583	missense	146556	exon5			GGGTAGGCGTATC		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.731C>A	16.37:g.5106086G>T	ENSP00000324672:p.Ala244Asp		123	0	0		88	0.05	4	NM_001098514	0		0	B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891301	0.33442	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.72	2.57	0.30868	.	0.877224	0.10036	N	0.724069	T	0.30510	0.0767	M	0.68317	2.08	0.09310	N	1	P;P	0.43352	0.651;0.804	B;B	0.43301	0.15;0.415	T	0.15435	-1.0437	10	0.18276	T	0.48	-16.4827	4.6665	0.12668	0.1766:0.0:0.6503:0.173	.	244;282	Q6UX73;G3V0F0	CP089_HUMAN;.	D	244;244;244;282;282;244	ENSP00000417158:A244D;ENSP00000420566:A244D;ENSP00000390402:A282D;ENSP00000283478:A282D;ENSP00000324672:A244D	ENSP00000324672:A244D	A	-	2	0	C16orf89	5046087	0.002000	0.14202	0.390000	0.26220	0.199000	0.23934	0.775000	0.26689	0.784000	0.33661	-0.229000	0.12294	GCC			0.572	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000354524.1		NM_152459		T	5106086	G	T	5106086	3	4	104	1	0	0	0	0	1	0	0	0	1844	1203	42	2	628	2	C16orf89	16	5106086	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	3277628	5106086	85248667	63	7802											
ADCY7	113	ucsc.edu	37	chr16	50327364	50327364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggtgaccgtcgctgcatgCctgacaacaacttccacagc	10	8	9	14	2	0	2	0	2	0	0	2	2	1	2	3	1	5	2	3	1	2	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:50327364C>T	ENST00000394697.2	+	6	1127	c.787C>T	c.(787-789)Cct>Tct	p.P263S	ADCY7_ENST00000254235.3_Missense_Mutation_p.P263S|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.P263S|ADCY7_ENST00000537579.1_Missense_Mutation_p.P263S|ADCY7_ENST00000538642.1_Missense_Mutation_p.P263S			P51828	ADCY7_HUMAN	adenylate cyclase 7	263					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)		TCGCTGCATGCCTGACAACAA	0.587																																					p.P263S													.	ADCY7	90		0			c.C787T												121	95	104					16																	50327364		2198	4300	6498	SO:0001583	missense	113	exon5			TGCATGCCTGACA	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.787C>T	16.37:g.50327364C>T	ENSP00000378187:p.Pro263Ser		107	0.0093457944	1		45	0.09	4	NM_001114	15	0	0	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	9.234	1.036471	0.19669	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.81499	-0.99;-1.5;-0.99;-1.5	5.18	5.18	0.71444	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.161832	0.28958	U	0.013596	T	0.73791	0.3632	L	0.39898	1.24	0.37028	D	0.896554	B;B	0.20887	0.002;0.049	B;B	0.25506	0.004;0.061	T	0.70037	-0.4982	10	0.07325	T	0.83	.	19.046	0.93019	0.0:1.0:0.0:0.0	.	263;263	P51828;F5H4D1	ADCY7_HUMAN;.	S	263	ENSP00000445046:P263S;ENSP00000378187:P263S;ENSP00000437788:P263S;ENSP00000254235:P263S	ENSP00000254235:P263S	P	+	1	0	ADCY7	48884865	1.000000	0.71417	0.901000	0.35422	0.076000	0.17211	4.477000	0.60223	2.553000	0.86117	0.655000	0.94253	CCT			0.587	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256877.3				T	50327364	C	T	50327364	3	4	104	1	0	0	0	0	1	0	0	0	299	739	26	2	805	2	ADCY7	16	50327364	Missense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	45221278	50327364	40027389	64	7803											
DHX38	9785	mdanderson.org	37	chr16	72141698	72141698	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcttctacaggcccaaGgtggggcagcggctggctcc	6	7	14	14	1	2	0	0	0	2	0	3	0	3	0	3	6	2	3	3	6	2	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:72141698G>T	ENST00000268482.3	+	21	3473	c.2964G>T	c.(2962-2964)aaG>aaT	p.K988N	DHX38_ENST00000536867.1_Splice_Site_p.K300N	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	988					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)				ACAGGCCCAAGGTGGGGCAGC	0.587																																					p.K988N	Melanoma(97;711 1442 7855 13832 28836)												.	.			0			c.G2964T												56	49	52					16																	72141698		2198	4300	6498	SO:0001630	splice_region_variant	9785	exon21			GCCCAAGGTGGGG	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.2964+1G>T	16.37:g.72141698G>T			39	0	0		44	0.07	3	NM_014003	113	0	0	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130013	0.94473	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.04194	3.68;3.68	5.43	5.43	0.79202	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	M	0.89534	3.04	0.80722	D	1	D;P	0.67145	0.996;0.78	D;P	0.70487	0.969;0.474	T	0.05533	-1.0879	10	0.87932	D	0	.	18.1605	0.89706	0.0:0.0:1.0:0.0	.	300;988	B4DVG8;Q92620	.;PRP16_HUMAN	N	988;300	ENSP00000268482:K988N;ENSP00000437898:K300N	ENSP00000268482:K988N	K	+	3	2	DHX38	70699199	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.402000	0.97298	2.825000	0.97269	0.655000	0.94253	AAG			0.587	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269004.3		NM_014003	Missense_Mutation	T	72141698	G	T	72141698	5	4	104	1	0	0	0	0	0	0	1	0	4516	1014	35	3	3042	3	DHX38	16	72141698	Splice_Site	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	21814334	72141698	18213055	65	7804											
GSG2	83903	mdanderson.org	37	chr17	3627691	3627691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggacctcagcgtgtgcggCcagcccagggacggcgacga	7	3	16	15	6	1	0	1	0	0	0	1	4	1	2	4	4	3	0	4	4	0	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:3627691C>T	ENST00000325418.4	+	1	481	c.462C>T	c.(460-462)ggC>ggT	p.G154G	ITGAE_ENST00000571185.1_5'UTR|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	154					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GCGTGTGCGGCCAGCCCAGGG	0.721																																					p.G154G													.	.			0			c.C462T												13	15	14					17																	3627691		2197	4294	6491	SO:0001819	synonymous_variant	83903	exon1			GTGCGGCCAGCCC	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.462C>T	17.37:g.3627691C>T			56	0	0		45	0.07	3	NM_031965	20	0	0	Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	CCDS11036.1																																																																																					0.721	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207391.1		NM_031965		T	3627691	C	T	3627691	2	4	104	1	0	0	0	0	0	0	0	1	6837	726	26	2		2	GSG2	17	3627691	Silent	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10		3627691	77567519	66	7805											
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	3999200	3999200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttttgaagtgttcttccGcacaaaatttatctgaagat	12	15	6	8	1	2	3	0	2	2	1	3	3	3	3	2	0	0	2	2	0	5	6			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:3999200G>A	ENST00000381638.2	-	11	1962	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	613							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						GTGTTCTTCCGCACAAAATTT	0.403																																					p.A613V													.	.			0			c.C1838T												77	77	77					17																	3999200		2203	4300	6503	SO:0001583	missense	23140	exon11			TCTTCCGCACAAA	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.1838C>T	17.37:g.3999200G>A	ENSP00000371051:p.Ala613Val		132	0	0		118	0.25	30	NM_015113	39	0.28	11	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626866	0.96671	.	.	ENSG00000074755	ENST00000381638	T	0.22336	1.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.66716	0.946;0.884	T	0.02424	-1.1161	10	0.59425	D	0.04	-13.6388	20.8794	0.99867	0.0:0.0:1.0:0.0	.	613;613	O43149-3;O43149	.;ZZEF1_HUMAN	V	613	ENSP00000371051:A613V	ENSP00000371051:A613V	A	-	2	0	ZZEF1	3945949	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.490000	0.81461	2.941000	0.99782	0.655000	0.94253	GCG			0.403	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207480.1		NM_015113		A	3999200	G	A	3999200	3	1	104	1	0	0	0	0	1	0	0	0	18278	1087	38	1	7227	1	ZZEF1	17	3999200	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	371509	3999200	77196010	67	7806											
CDK5RAP3	80279	mdanderson.org	37	chr17	46052882	46052882	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctcccctctctagggCgaaaatgtccgaggagaact	9	10	9	13	2	3	1	0	0	3	1	6	4	4	1	3	2	1	0	3	2	4	2	rs369343510	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:46052882C>A	ENST00000338399.4	+	7	622	c.516C>A	c.(514-516)ggC>ggA	p.G172G	CDK5RAP3_ENST00000536708.2_Silent_p.G197G|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	172					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTCTCTAGGGCGAAAATGTCC	0.567																																					p.G172G													CDK5RAP3,NS,carcinoma,0,1	CDK5RAP3	0	1	0			c.C516A												51	55	54					17																	46052882		2078	4219	6297	SO:0001819	synonymous_variant	80279	exon7			CTAGGGCGAAAAT	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.516C>A	17.37:g.46052882C>A			17	0	0		13	0.23	3	NM_176096	313	0	0	B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	37	CCDS42356.1																																																																																					0.567	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442913.1		NM_176096		A	46052882	C	A	46052882	2	1	104	1	0	0	0	0	0	0	0	1	3149	755	27	1		1	CDK5RAP3	17	46052882	Silent	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	42053682	46052882	35142328	68	7807											
CACNA1G	8913	mdanderson.org	37	chr17	48697094	48697094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccagggctccctggaGtgggagctgaagctgatgga	8	8	16	9	0	0	3	0	3	0	0	2	6	2	6	2	4	2	3	2	4	1	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:48697094G>T	ENST00000359106.5	+	34	5832	c.5832G>T	c.(5830-5832)gaG>gaT	p.E1944D	CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1926D|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1910D|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1899D|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1910D|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1933D|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1933D|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1944D|CACNA1G_ENST00000502264.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1944					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)	GCTCCCTGGAGTGGGAGCTGA	0.672																																					p.E1944D													.	.			0			c.G5832T												22	26	25					17																	48697094		1953	4139	6092	SO:0001583	missense	8913	exon34			CCTGGAGTGGGAG	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.5832G>T	17.37:g.48697094G>T	ENSP00000352011:p.Glu1944Asp		36	0	0		24	0.13	3	NM_198385	1	0	0	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	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	13.43	2.234738	0.39498	.	.	ENSG00000006283	ENST00000354983;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000510115;ENST00000515765;ENST00000359106;ENST00000515411	D;D;D;D;D;D;D;D	0.96940	-4.16;-4.11;-4.18;-4.18;-4.09;-4.1;-4.18;-4.11	4.66	-7.64	0.01286	.	3.456800	0.00649	N	0.000557	D	0.90202	0.6937	L	0.38175	1.15	0.34118	D	0.663745	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.09377	0.0;0.001;0.004;0.0;0.003;0.001;0.001;0.001	T	0.78435	-0.2205	10	0.12766	T	0.61	.	2.4861	0.04599	0.2202:0.4387:0.122:0.2191	.	1926;1899;1933;1933;1921;1944;1910;1944	Q19R07;Q19QY8;Q19QZ7;Q19QZ8;O43497-4;Q19R02;Q19R11;O43497	.;.;.;.;.;.;.;CAC1G_HUMAN	D	1910;1944;1933;1899;1910;1933;1944;1926	ENSP00000347078:E1910D;ENSP00000423112:E1944D;ENSP00000420918:E1933D;ENSP00000426172:E1899D;ENSP00000427173:E1910D;ENSP00000426232:E1933D;ENSP00000352011:E1944D;ENSP00000423155:E1926D	ENSP00000347078:E1910D	E	+	3	2	CACNA1G	46052093	0.558000	0.26554	0.830000	0.32933	0.984000	0.73092	-0.212000	0.09319	-1.565000	0.01676	-0.312000	0.09012	GAG			0.672	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000367895.1		NM_018896		T	48697094	G	T	48697094	3	4	104	1	0	0	0	0	1	0	0	0	2546	1020	36	3	6233	3	CACNA1G	17	48697094	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	2644212	48697094	32498116	69	7808											
PGS1	9489	broad.mit.edu	37	chr17	76411043	76411043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtacaggtcagttcacCgggacctggaggcccagatt	8	9	14	10	1	2	1	2	0	0	1	2	3	2	3	3	5	1	2	3	5	1	4			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:76411043C>T	ENST00000262764.6	+	8	1512	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	PGS1_ENST00000329897.7_Missense_Mutation_p.R361W|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	496					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GTCAGTTCACCGGGACCTGGA	0.607																																					p.R496W	Esophageal Squamous(45;182 1126 10685 43198)												.	PGS1	30		0			c.C1486T												60	64	63					17																	76411043		2070	4218	6288	SO:0001583	missense	9489	exon8			GTTCACCGGGACC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1486C>T	17.37:g.76411043C>T	ENSP00000262764:p.Arg496Trp		105	0	0		85	0.05	4	NM_024419	99	0	0	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945968	0.73672	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	T;T	0.14893	2.47;2.47	4.52	4.52	0.55395	.	0.299706	0.35772	N	0.002984	T	0.41971	0.1182	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.63283	0.913	T	0.45323	-0.9269	10	0.66056	D	0.02	-12.8531	12.5518	0.56231	0.1662:0.8338:0.0:0.0	.	496	Q32NB8	PGPS1_HUMAN	W	496;361	ENSP00000262764:R496W;ENSP00000330039:R361W	ENSP00000262764:R496W	R	+	1	2	PGS1	73922638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.081000	0.57627	2.337000	0.79520	0.561000	0.74099	CGG			0.607	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437301.1		NM_024419		T	76411043	C	T	76411043	3	4	104	1	0	0	0	0	1	0	0	0	11825	643	23	1	1516	1	PGS1	17	76411043	Missense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	27713949	76411043	4784167	70	7809											
RNF213	57674	broad.mit.edu	37	chr17	78313950	78313951	+	In_Frame_Ins	INS	-	-	GGTCTGTGA																															gaagactaccagctcgtcatINSggtctgtgatggggactggg																								rs181142554		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:78313950_78313951insGGTCTGTGA	ENST00000582970.1	+	26	5926_5927	c.5783_5784insGGTCTGTGA	c.(5782-5787)atggtc>atGGTCTGTGAggtc	p.1929_1930insCEV	RNF213_ENST00000336301.6_Start_Codon_Ins|RNF213_ENST00000508628.2_In_Frame_Ins_p.1978_1979insCEV	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1929					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)			CAGCTCGTCATGGTCTGTGATG	0.609																																					p.M1928delinsMVCE													.	RNF213	766		0			c.5783_5784insGGTCTGTGA																																									SO:0001652	inframe_insertion	57674	exon26			TCGTCATGGTCTG	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.5784_5792dupGGTCTGTGA	17.37:g.78313951_78313959dupGGTCTGTGA	ENSP00000464087:p.Val1929_Cys1930insCysGluVal		87	0	0		72	0.11	8	NM_001256071	23	0	0	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	In_Frame_Ins	INS	ENST00000582970.1	37	CCDS58606.1																																																																																					0.609	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000443298.1		NM_020914		GGTCTGTGA	78313951	-	GGTCTGTGA	78313950	7	5	104	1	0	1	1	0	0	0	0	0	13500	1464	51	0	6200	0	RNF213	17	78313950	In_Frame_Ins	INS	-	TCGA-WZ-A7V3-01A-11D-A435-10	1902907	78313950	2881260	71	7810											
B3GNTL1	146712	broad.mit.edu	37	chr17	81006578	81006578	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaacagacagctccatGgtaccttcaaagtcctgttg	12	11	8	10	0	1	2	1	1	0	1	3	2	3	2	3	1	3	3	3	1	4	4	rs368812056		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:81006578G>T	ENST00000320865.3	-	2	157	c.144C>A	c.(142-144)acC>acA	p.T48T	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	48							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)			ACAGCTCCATGGTACCTTCAA	0.478																																					p.T48T													.	B3GNTL1	40		0			c.C144A							G		1,4405	2.1+/-5.4	0,1,2202	98	94	96		144	2.1	0.2	17		96	0,8600		0,0,4300	no	coding-synonymous	B3GNTL1	NM_001009905.1		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		48/362	81006578	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146712	exon2			CTCCATGGTACCT	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.144C>A	17.37:g.81006578G>T			134	0	0		97	0.03	3	NM_001009905	3	0	0	Q6GV30|Q8WUT3	Silent	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																					0.478	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438949.1		NM_001009905		T	81006578	G	T	81006578	2	4	104	1	0	0	0	0	0	0	0	1	1265	1335	47	3		3	B3GNTL1	17	81006578	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	2692628	81006578	188632	72	7811											
C19orf21	126353	mdanderson.org	37	chr19	758104	758104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctcggagggtccccaGcccggactccggagagccct	5	6	15	15	3	1	1	0	0	1	1	4	4	3	3	5	5	2	0	5	5	0	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:758104G>T	ENST00000215582.6	+	2	1261	c.1158G>T	c.(1156-1158)caG>caT	p.Q386H		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	386					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGGGTCCCCAGCCCGGACTCC	0.682																																					p.Q386H													.	.			0			c.G1158T												11	13	12					19																	758104		2188	4286	6474	SO:0001583	missense	126353	exon2			TCCCCAGCCCGGA	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1158G>T	19.37:g.758104G>T	ENSP00000215582:p.Gln386His		48	0	0		35	0.09	3	NM_173481	0		0		Missense_Mutation	SNP	ENST00000215582.6	37	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255955	0.59321	.	.	ENSG00000099812	ENST00000215582	T	0.37915	1.17	4.54	1.11	0.20524	.	1.381770	0.05207	N	0.506013	T	0.50326	0.1609	L	0.60455	1.87	0.09310	N	1	D	0.55605	0.972	P	0.57468	0.821	T	0.37197	-0.9716	10	0.54805	T	0.06	-1.4881	8.4628	0.32938	0.2722:0.0:0.7278:0.0	.	386	Q8IVT2	CS021_HUMAN	H	386	ENSP00000215582:Q386H	ENSP00000215582:Q386H	Q	+	3	2	C19orf21	709104	0.138000	0.22547	0.008000	0.14137	0.064000	0.16182	2.198000	0.42705	0.461000	0.27071	0.491000	0.48974	CAG			0.682	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457600.2		NM_173481		T	758104	G	T	758104	3	4	104	1	0	0	0	0	1	0	0	0	1915	962	34	2	1160	2	C19orf21	19	758104	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		758104	58370879	73	7812											
KDM4B	23030	mdanderson.org	37	chr19	5131404	5131404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccttcaaccaggagcacGtgtcctgccagcaggccttt	8	8	10	15	1	1	0	1	0	0	0	2	1	2	1	5	2	5	2	5	2	1	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:5131404G>T	ENST00000159111.4	+	12	1851	c.1633G>T	c.(1633-1635)Gtg>Ttg	p.V545L	KDM4B_ENST00000536461.1_Missense_Mutation_p.V579L	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	545					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCAGGAGCACGTGTCCTGCCA	0.647																																					p.V545L													.	.			0			c.G1633T												41	41	41					19																	5131404		2200	4293	6493	SO:0001583	missense	23030	exon12			GAGCACGTGTCCT	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1633G>T	19.37:g.5131404G>T	ENSP00000159111:p.Val545Leu		76	0	0		41	0.07	3	NM_015015	33	0	0	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	2.862	-0.236000	0.05944	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.18338	2.22;2.23	3.9	-1.31	0.09230	.	3.313100	0.01012	N	0.003857	T	0.12008	0.0292	L	0.36672	1.1	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.09377	0.001;0.004	T	0.14282	-1.0478	10	0.20046	T	0.44	-0.8652	1.3139	0.02103	0.3513:0.1541:0.3548:0.1397	.	579;545	F5GX28;O94953	.;KDM4B_HUMAN	L	545;579	ENSP00000159111:V545L;ENSP00000440495:V579L	ENSP00000159111:V545L	V	+	1	0	KDM4B	5082404	0.022000	0.18835	0.000000	0.03702	0.037000	0.13140	0.180000	0.16860	-0.506000	0.06558	-1.134000	0.01955	GTG			0.647	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450558.1		NM_015015		T	5131404	G	T	5131404	3	4	104	1	0	0	0	0	1	0	0	0	8144	1145	40	1	1671	1	KDM4B	19	5131404	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	4373300	5131404	53997579	74	7813											
AP1M1	8907	mdanderson.org	37	chr19	16337286	16337286	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgggctccatcaagatgCgagtcttcctctcgggcatg	6	11	12	12	3	3	1	1	0	2	1	7	2	5	1	2	2	1	2	2	2	1	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:16337286C>T	ENST00000291439.3	+	6	1050	c.601C>T	c.(601-603)Cga>Tga	p.R201*	AP1M1_ENST00000444449.2_Nonsense_Mutation_p.R213*|AP1M1_ENST00000541844.1_Nonsense_Mutation_p.R129*|AP1M1_ENST00000590756.1_Nonsense_Mutation_p.R129*|AP1M1_ENST00000429941.2_Nonsense_Mutation_p.R201*	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	201	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CATCAAGATGCGAGTCTTCCT	0.657																																					p.R213X													.	.			0			c.C637T												58	38	45					19																	16337286		2197	4297	6494	SO:0001587	stop_gained	8907	exon7			AAGATGCGAGTCT		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.601C>T	19.37:g.16337286C>T	ENSP00000291439:p.Arg201*		29	0	0		25	0.12	3	NM_001130524	179	0	0	Q4TTY5	Nonsense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146100	0.94603	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	.	.	.	3.97	2.87	0.33458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-30.5228	10.807	0.46524	0.2459:0.7541:0.0:0.0	.	.	.	.	X	213;201;129;201	.	ENSP00000291439:R201X	R	+	1	2	AP1M1	16198286	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	0.865000	0.27940	2.056000	0.61249	0.561000	0.74099	CGA			0.657	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460492.1		NM_032493		T	16337286	C	T	16337286	4	4	104	1	0	0	0	0	0	1	0	0	734	760	27	1	663	1	AP1M1	19	16337286	Nonsense_Mutation	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10	11205882	16337286	42791697	75	7814											
F2RL3	9002	mdanderson.org	37	chr19	17000758	17000758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactctatggtcacatgtatGgctcagtgctgctgctggcc	6	12	11	12	0	3	0	2	0	1	0	3	0	3	0	1	3	3	5	1	3	2	2			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:17000758G>T	ENST00000248076.3	+	2	814	c.484G>T	c.(484-486)Ggc>Tgc	p.G162C	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	162					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCACATGTATGGCTCAGTGCT	0.746																																					p.G162C													.	.			0			c.G484T												8	9	9					19																	17000758		2144	4196	6340	SO:0001583	missense	9002	exon2			ATGTATGGCTCAG	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.484G>T	19.37:g.17000758G>T	ENSP00000248076:p.Gly162Cys		30	0	0		21	0.14	3	NM_003950	0		0	O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.493586	0.01009	.	.	ENSG00000127533	ENST00000248076	T	0.71934	-0.61	4.3	-4.17	0.03857	GPCR, rhodopsin-like superfamily (1);	0.315897	0.29948	N	0.010796	T	0.38612	0.1047	N	0.05510	-0.035	0.48395	D	0.999649	B	0.12013	0.005	B	0.23150	0.044	T	0.41342	-0.9514	10	0.02654	T	1	.	9.5038	0.39033	0.0907:0.0:0.1717:0.7376	.	162	Q96RI0	PAR4_HUMAN	C	162	ENSP00000248076:G162C	ENSP00000248076:G162C	G	+	1	0	F2RL3	16861758	0.998000	0.40836	0.242000	0.24170	0.073000	0.16967	0.478000	0.22212	-0.397000	0.07691	-0.500000	0.04577	GGC			0.746	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462875.1				T	17000758	G	T	17000758	3	4	104	1	0	0	0	0	1	0	0	0	5353	1348	47	3	490	3	F2RL3	19	17000758	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	663472	17000758	42128225	76	7815											
ZNF233	353355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	44778517	44778517	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccctacaaatgtgatgtGtgtgggaaaggcttcagttg	11	12	12	6	0	1	1	1	1	0	0	2	2	2	2	1	2	1	2	1	2	4	3			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:44778517G>T	ENST00000391958.2	+	5	1831	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Silent_p.V550V	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AATGTGATGTGTGTGGGAAAG	0.453																																					p.V568V													.	.			0			c.G1704T												95	89	91					19																	44778517		2203	4300	6503	SO:0001819	synonymous_variant	353355	exon5			TGATGTGTGTGGG	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1704G>T	19.37:g.44778517G>T			94	0	0		96	0.2	19	NM_001207005	14	0.14	2	B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	CCDS33047.1																																																																																					0.453	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000460737.1		NM_181756		T	44778517	G	T	44778517	2	4	104	1	0	0	0	0	0	0	0	1	17809	1364	48	3		3	ZNF233	19	44778517	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	27777759	44778517	14350466	77	7816											
EPS8L1	54869	mdanderson.org	37	chr19	55593969	55593969	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggactcgtggacccgccccGggtgaggggcggggctggga	4	4	22	11	4	0	1	0	1	0	0	1	4	0	4	3	8	0	1	3	8	0	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:55593969G>T	ENST00000201647.6	+	12	1269	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	EPS8L1_ENST00000540810.1_Splice_Site_p.G341W|EPS8L1_ENST00000245618.5_Splice_Site_p.G278W|EPS8L1_ENST00000586329.1_Splice_Site_p.G387W|EPS8L1_ENST00000588359.1_Splice_Site_p.G59W|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	405					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)		GACCCGCCCCGGGTGAGGGGC	0.642																																					p.G405W	Ovarian(149;255 1863 3636 27051 29647)												EPS8L1_ENST00000310075,colon,carcinoma,0,3	EPS8L1_ENST00000310075	0	3	0			c.G1213T												4	4	4					19																	55593969		1882	3773	5655	SO:0001630	splice_region_variant	54869	exon12			CGCCCCGGGTGAG	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.1214+1G>T	19.37:g.55593969G>T			53	0	0		48	0.06	3	NM_133180	24	0	0	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975622	0.34848	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.05717	3.65;3.41;3.4	4.05	4.05	0.47172	.	0.127201	0.49305	D	0.000150	T	0.17109	0.0411	L	0.48362	1.52	0.27802	N	0.942456	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;0.996;0.99;0.993;0.996	T	0.00605	-1.1648	10	0.59425	D	0.04	-29.705	11.9005	0.52680	0.0:0.0:1.0:0.0	.	341;387;152;278;405	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	W	387;405;341;278;59	ENSP00000201647:G405W;ENSP00000437541:G341W;ENSP00000245618:G278W	ENSP00000201647:G405W	G	+	1	0	EPS8L1	60285781	0.008000	0.16893	0.679000	0.29978	0.245000	0.25701	0.078000	0.14761	2.262000	0.75019	0.561000	0.74099	GGG			0.642	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451713.1		NM_017729	Missense_Mutation	T	55593969	G	T	55593969	5	4	104	1	0	0	0	0	0	0	1	0	5202	1130	39	1	1307	1	EPS8L1	19	55593969	Splice_Site	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	10815452	55593969	3535014	78	7817											
ADRA1D	146	mdanderson.org	37	chr20	4202383	4202383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcgtgggtctccggaaCggccccagcagcctccactc	5	7	13	16	3	1	0	0	0	1	0	5	1	2	1	5	4	3	1	5	4	1	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr20:4202383C>T	ENST00000379453.4	-	2	1622	c.1506G>A	c.(1504-1506)ccG>ccA	p.P502P		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	502				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	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)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					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)	GTCTCCGGAACGGCCCCAGCA	0.736																																					p.P502P													.	.			0			c.G1506A												6	8	7					20																	4202383		1981	3981	5962	SO:0001819	synonymous_variant	146	exon2			CCGGAACGGCCCC	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"GPCR / Class A : Adrenoceptors : alpha"	280	protein-coding gene	gene with protein product		104219	"adrenergic, alpha-1D-, receptor"			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1506G>A	20.37:g.4202383C>T			30	0	0		22	0.09	2	NM_000678	0		0	Q9NPY0	Silent	SNP	ENST00000379453.4	37	CCDS13079.1																																																																																					0.736	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077812.2		NM_000678		T	4202383	C	T	4202383	2	4	104	1	0	0	0	0	0	0	0	1	336	523	19	1		1	ADRA1D	20	4202383	Silent	SNP	C	TCGA-WZ-A7V3-01A-11D-A435-10		4202383	58823137	79	7818											
JPH2	57158	mdanderson.org	37	chr20	42788659	42788659	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgcggcgtcgctggcGcccgagctgaggtcgctctt	3	8	17	13	7	1	1	0	1	1	0	3	3	1	2	1	4	1	3	1	4	0	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr20:42788659G>T	ENST00000372980.3	-	2	1640	c.768C>A	c.(766-768)ggC>ggA	p.G256G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	256					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTCGCTGGCGCCCGAGCTGA	0.731																																					p.G256G													.	.			0			c.C768A												10	12	11					20																	42788659		2141	4138	6279	SO:0001819	synonymous_variant	57158	exon2			GCTGGCGCCCGAG	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.768C>A	20.37:g.42788659G>T			17	0	0		23	0.13	3	NM_020433	0		0	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																					0.731	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080307.1				T	42788659	G	T	42788659	2	4	104	1	0	0	0	0	0	0	0	1	7976	1074	38	1		1	JPH2	20	42788659	Silent	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	38586276	42788659	20236861	80	7819											
C20orf151	140893	mdanderson.org	37	chr20	60988512	60988512	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggctgtgggtggggAggtggcagaggcctccctgt	4	7	22	8	1	0	1	0	0	0	1	1	3	1	3	2	9	0	2	2	9	0	0			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr20:60988512A>G	ENST00000252998.1	-	11	1776	c.1620T>C	c.(1618-1620)ccT>ccC	p.P540P		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	540	Pro-rich.					extracellular space (GO:0005615)											GTGGGTGGGGAGGTGGCAGAG	0.662																																					p.P540P													.	.			0			c.T1620C												28	29	28					20																	60988512		2191	4298	6489	SO:0001819	synonymous_variant	140893	exon11			GTGGGGAGGTGGC	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1620T>C	20.37:g.60988512A>G			38	0	0		22	0.14	3	NM_080833	0		0	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	CCDS13498.1																																																																																					0.662	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080029.1		NM_080833		G	60988512	A	G	60988512	2	3	104	1	0	0	0	0	0	0	0	1	2093	291	11	4		4	C20orf151	20	60988512	Silent	SNP	A	TCGA-WZ-A7V3-01A-11D-A435-10	18199853	60988512	2037008	81	7820											
TRMT2A	27037	mdanderson.org	37	chr22	20102547	20102547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggctggtgcgcacagtcaGctgcttccagtggcctgtgt	4	10	15	12	2	1	0	1	0	0	0	2	0	2	0	2	3	3	4	2	3	0	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr22:20102547G>T	ENST00000252136.7	-	5	1334	c.946C>A	c.(946-948)Ctg>Atg	p.L316M	RANBP1_ENST00000430524.1_5'Flank|TRMT2A_ENST00000404751.3_Missense_Mutation_p.L316M|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.L316M|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.L316M	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	316					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CGCACAGTCAGCTGCTTCCAG	0.647																																					p.L316M													.	.			0			c.C946A												44	41	42					22																	20102547		2194	4293	6487	SO:0001583	missense	27037	exon5			CAGTCAGCTGCTT	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"HpaII tiny fragments locus 9C"	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.946C>A	22.37:g.20102547G>T	ENSP00000252136:p.Leu316Met		46	0	0		36	0.08	3	NM_001257994	69	0	0	D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723049	0.68959	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.61392	0.14;0.14;0.11	5.12	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.85373	2.75	0.58432	D	0.999999	P;P;B	0.45672	0.641;0.864;0.33	B;P;B	0.45753	0.405;0.492;0.289	T	0.69397	-0.5156	10	0.72032	D	0.01	-24.7773	11.33	0.49470	0.15:0.0:0.85:0.0	.	316;316;316	F2Z2W7;Q8IZ69-2;Q8IZ69	.;.;TRM2A_HUMAN	M	316	ENSP00000252136:L316M;ENSP00000385807:L316M;ENSP00000395738:L316M	ENSP00000252136:L316M	L	-	1	2	TRMT2A	18482547	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.096000	0.71446	0.567000	0.29293	-0.291000	0.09656	CTG			0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318168.3		NM_022727		T	20102547	G	T	20102547	3	4	104	1	0	0	0	0	1	0	0	0	16589	962	34	2	963	2	TRMT2A	22	20102547	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		20102547	31202019	82	7821											
TRMT2A	27037	mdanderson.org	37	chr22	20104077	20104077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcagggggcaccgagacgGtagggcagctcagggcactg	8	4	18	11	2	1	1	1	0	0	1	1	2	1	1	1	5	2	6	1	5	1	1			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr22:20104077G>T	ENST00000252136.7	-	2	471	c.83C>A	c.(82-84)aCc>aAc	p.T28N	RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Missense_Mutation_p.T28N|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.T28N|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.T28N	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	28					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CACCGAGACGGTAGGGCAGCT	0.706																																					p.T28N													.	.			0			c.C83A												21	26	25					22																	20104077		2043	4084	6127	SO:0001583	missense	27037	exon2			GAGACGGTAGGGC	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"HpaII tiny fragments locus 9C"	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.83C>A	22.37:g.20104077G>T	ENSP00000252136:p.Thr28Asn		42	0	0		33	0.09	3	NM_001257994	34	0	0	D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174914	0.21704	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	T;T;T	0.44083	0.93;0.93;0.93	3.14	-1.83	0.07833	.	4.791030	0.01519	U	0.018293	T	0.22003	0.0530	N	0.14661	0.345	0.09310	N	0.99999	B;B;B	0.24963	0.115;0.115;0.115	B;B;B	0.11329	0.006;0.006;0.006	T	0.05007	-1.0912	10	0.18276	T	0.48	-0.0331	3.257	0.06835	0.2902:0.0:0.5185:0.1913	.	28;28;28	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	N	28;28;28;28;16	ENSP00000252136:T28N;ENSP00000385807:T28N;ENSP00000395738:T28N	ENSP00000252136:T28N	T	-	2	0	TRMT2A	18484077	0.013000	0.17824	0.000000	0.03702	0.104000	0.19210	0.364000	0.20325	-0.323000	0.08602	0.313000	0.20887	ACC			0.706	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318168.3		NM_022727		T	20104077	G	T	20104077	3	4	104	1	0	0	0	0	1	0	0	0	16589	1261	44	3	1838	3	TRMT2A	22	20104077	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	1530	20104077	31200489	83	7822											
DEPDC5	9681	mdanderson.org	37	chr22	32218702	32218702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcaattcccgccagcctgGtgacggcatgtccttcttga	7	10	10	14	2	1	2	0	2	1	0	3	2	3	2	4	2	2	2	4	2	1	3			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr22:32218702G>T	ENST00000382112.3	+	23	2100	c.2030G>T	c.(2029-2031)gGt>gTt	p.G677V	DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G677V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G677V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.G677V|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G677V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G677V|DEPDC5_ENST00000536766.1_Intron	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	677					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						CGCCAGCCTGGTGACGGCATG	0.527																																					p.G677V													.	.			0			c.G2030T												69	68	68					22																	32218702		1981	4163	6144	SO:0001583	missense	9681	exon24			AGCCTGGTGACGG	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.2030G>T	22.37:g.32218702G>T	ENSP00000371546:p.Gly677Val		70	0	0		48	0.06	3	NM_014662	28	0	0	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.957676|3.957676	0.73902|0.73902	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.24908|.	1.86;1.83;1.83;1.83;1.83;1.83|.	5.37|5.37	4.35|4.35	0.52113|0.52113	.|.	0.050201|.	0.85682|.	D|.	0.000000|.	T|T	0.62539|0.62539	0.2436|0.2436	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.998;0.999;0.998;0.994|.	P;D;P;P|.	0.66351|.	0.889;0.943;0.852;0.829|.	T|T	0.60954|0.60954	-0.7160|-0.7160	10|5	0.33141|.	T|.	0.24|.	.|.	11.2334|11.2334	0.48925|0.48925	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	677;677;677;677|.	B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;DEPD5_HUMAN|.	V|C	677|74	ENSP00000266091:G677V;ENSP00000383108:G677V;ENSP00000383105:G677V;ENSP00000371546:G677V;ENSP00000371545:G677V;ENSP00000383107:G677V|.	ENSP00000266091:G677V|.	G|W	+|+	2|3	0|0	DEPDC5|DEPDC5	30548702|30548702	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	3.036000|3.036000	0.49767|0.49767	1.394000|1.394000	0.46624|0.46624	0.591000|0.591000	0.81541|0.81541	GGT|TGG			0.527	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129087.1		NM_014662		T	32218702	G	T	32218702	3	4	104	1	0	0	0	0	1	0	0	0	4447	1261	44	3	2138	3	DEPDC5	22	32218702	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10	12114625	32218702	19085864	84	7823											
RBM3	5935	mdanderson.org	37	chrX	48434941	48434941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggtattatgacagtcGacctggagggtatggatatg	10	11	15	5	1	0	1	0	1	0	0	1	4	0	3	1	5	0	3	1	5	4	4			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chrX:48434941G>T	ENST00000376759.3	+	5	425	c.362G>T	c.(361-363)cGa>cTa	p.R121L	RBM3_ENST00000354480.2_Missense_Mutation_p.D94Y|RBM3_ENST00000376755.1_Missense_Mutation_p.R121L|RBM3_ENST00000430348.2_Missense_Mutation_p.D94Y|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000466764.1_3'UTR	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	121	Gly-rich.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATGACAGTCGACCTGGAGGG	0.498																																					p.R121L													.	.			0			c.G362T												79	67	71					X																	48434941		2198	4295	6493	SO:0001583	missense	5935	exon5			ACAGTCGACCTGG	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.362G>T	X.37:g.48434941G>T	ENSP00000365950:p.Arg121Leu		47	0	0		47	0.06	3	NM_006743	2391	0	2		Missense_Mutation	SNP	ENST00000376759.3	37	CCDS14301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.89|14.89	2.670532|2.670532	0.47781|0.47781	.|.	.|.	ENSG00000102317|ENSG00000102317	ENST00000430348;ENST00000354480|ENST00000376759;ENST00000376755	.|T;T	.|0.20738	.|2.05;2.05	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	.|0.283763	.|0.19035	.|U	.|0.124432	T|T	0.32941|0.32941	0.0846|0.0846	L|L	0.49126|0.49126	1.545|1.545	0.22226|0.22226	N|N	0.99928|0.99928	.|D	.|0.53745	.|0.962	.|P	.|0.53450	.|0.726	T|T	0.09422|0.09422	-1.0675|-1.0675	6|10	0.45353|0.66056	T|D	0.12|0.02	1.5468|1.5468	14.4892|14.4892	0.67639|0.67639	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|121	.|P98179	.|RBM3_HUMAN	Y|L	94|121	.|ENSP00000365950:R121L;ENSP00000365946:R121L	ENSP00000346473:D94Y|ENSP00000365946:R121L	D|R	+|+	1|2	0|0	RBM3|RBM3	48319885|48319885	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.478000|0.478000	0.33099|0.33099	6.033000|6.033000	0.70925|0.70925	2.218000|2.218000	0.71995|0.71995	0.600000|0.600000	0.82982|0.82982	GAC|CGA			0.498	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060755.1		NM_006743		T	48434941	G	T	48434941	3	4	104	1	0	0	0	0	1	0	0	0	13152	1058	37	1	376	1	RBM3	23	48434941	Missense_Mutation	SNP	G	TCGA-WZ-A7V3-01A-11D-A435-10		48434941	106835619	85	7824											
NOL9	79707	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	6586826	6586826	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcacggtccttagctctTccgggggcacaggggtgagg	7	9	15	10	2	2	1	1	1	1	0	4	1	4	1	2	6	1	2	2	6	2	3			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr1:6586826T>A	ENST00000377705.5	-	11	1921	c.1889A>T	c.(1888-1890)gAa>gTa	p.E630V		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	630					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTAGCTCTTCCGGGGGCAC	0.542																																					p.E630V													.	.			0			c.A1889T												128	113	118					1																	6586826		2203	4300	6503	SO:0001583	missense	79707	exon11			AGCTCTTCCGGGG	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1889A>T	1.37:g.6586826T>A	ENSP00000366934:p.Glu630Val		124	0	0		130	0.22	28	NM_024654	70	0.19	13	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.588116	0.46110	.	.	ENSG00000162408	ENST00000377705	T	0.51325	0.71	5.24	5.24	0.73138	Pre-mRNA cleavage complex II Clp1 (1);	0.224729	0.40640	N	0.001041	T	0.67268	0.2875	M	0.77103	2.36	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.61959	-0.6955	10	0.42905	T	0.14	-20.5329	13.0942	0.59182	0.0:0.0:0.0:1.0	.	630	Q5SY16	NOL9_HUMAN	V	630	ENSP00000366934:E630V	ENSP00000366934:E630V	E	-	2	0	NOL9	6509413	0.881000	0.30235	0.044000	0.18714	0.417000	0.31264	3.395000	0.52558	1.984000	0.57885	0.460000	0.39030	GAA			0.542	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002625.1		NM_024654		A	6586826	T	A	6586826	3	1	105	1	0	0	0	0	1	0	0	0	10545	1783	62	5	227	5	NOL9	1	6586826	Missense_Mutation	SNP	T	TCGA-WZ-A7V4-01A-11D-A435-10		6586826	242663795	1	7825											
PIK3CD	5293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	9775907	9775907	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccctccccaccccgcagGcctccacgagtttgactcct	6	7	7	21	2	0	1	0	1	0	0	3	2	3	1	8	1	1	2	8	1	0	1			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr1:9775907G>A	ENST00000377346.4	+	5	566	c.371G>A	c.(370-372)gGc>gAc	p.G124D	PIK3CD_ENST00000536656.1_Splice_Site_p.G124D|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Splice_Site_p.G124D	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	124					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)	CACCCCGCAGGCCTCCACGAG	0.682																																					p.G124D													.	.			0			c.G371A												13	15	15					1																	9775907		2196	4294	6490	SO:0001630	splice_region_variant	5293	exon5			CCGCAGGCCTCCA		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.371-1G>A	1.37:g.9775907G>A			77	0	0		82	0.15	12	NM_005026	86	0.1	9	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.931385	0.73442	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.45668	0.89;0.89;0.89	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.60455	1.87	0.80722	D	1	P;D;D	0.89917	0.823;1.0;1.0	B;D;D	0.74674	0.414;0.984;0.984	T	0.58482	-0.7629	9	.	.	.	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	124;124;124	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	D	124	ENSP00000446444:G124D;ENSP00000366563:G124D;ENSP00000354410:G124D	.	G	+	2	0	PIK3CD	9698494	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	9.424000	0.97464	2.620000	0.88729	0.563000	0.77884	GGC			0.682	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004235.1		NM_005026	Missense_Mutation	A	9775907	G	A	9775907	5	1	105	1	0	0	0	0	0	0	1	0	11932	1217	42	2	381	2	PIK3CD	1	9775907	Splice_Site	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10	3189081	9775907	239474714	2	7826											
NRAS	4893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	7	15	8	11	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	3	5	rs11554290	byFrequency	TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	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)																											p.Q61R				Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	NRAS,NS,haematopoietic_neoplasm,-1,2068	NRAS	-1	2068	1016	Substitution - Missense(1016)	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)	c.A182G												180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	TCTTCTTGTCCAG	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		151	0	0		136	0.13	18	NM_002524	53	0.26	14	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	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		C	115256529	T	C	115256529	3	2	105	1	0	0	0	0	1	0	0	0	10657	1812	63	4	399	4	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-WZ-A7V4-01A-11D-A435-10	105480622	115256529	133994092	3	7827											
OBSCN	84033	bcgsc.ca	37	chr1	228412227	228412228	+	Missense_Mutation	DNP	TG	TG	CA																															caggcagaggcaggagccagTgccacactgagctgcgaggt																								rs386640006|rs1757153|rs1771480	byFrequency	TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	TG	TG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr1:228412227_228412228TG>CA	ENST00000422127.1	+	9	2765_2766	c.2721_2722TG>CA	c.(2719-2724)agTGcc>agCAcc	p.A908T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1000T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A908T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	908	Ig-like 9.		A -> T (in dbSNP:rs1757153).		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)				CAGGAGCCAGTGCCACACTGAG	0.614																																					p.A908T													.	OBSCN	2142		0			c.G2998A																																									SO:0001583	missense	84033	exon10			AGCCAGTGCCACA	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	Exception_encountered	1.37:g.228412227_228412228delinsCA	ENSP00000409493:p.Ala908Thr		104	0	0		98	0.08	8	NM_001271223	10	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	DNP	ENST00000422127.1	37	CCDS58065.1																																																																																					0.614	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		CA	228412228	TG	CA	228412227	3	2	105	1	0	0	0	0	1	0	0	0	10829	1693	59	4	2751	4	OBSCN	1	228412227	Missense_Mutation	DNP	TG	TCGA-WZ-A7V4-01A-11D-A435-10	113155698	228412227	20838394	4	7828											
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	228480321	228480321	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacagtgcagcccctgtGgagtggagaaaggggtctga	10	7	16	8	0	1	3	0	2	1	1	1	5	1	4	2	4	3	1	2	4	2	0			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr1:228480321G>T	ENST00000422127.1	+	40	10745	c.10701G>T	c.(10699-10701)gtG>gtT	p.V3567V	OBSCN_ENST00000359599.6_Silent_p.V2414V|OBSCN_ENST00000284548.11_Silent_p.V3567V|OBSCN_ENST00000366707.4_Silent_p.V686V|OBSCN_ENST00000570156.2_Silent_p.V3996V|OBSCN_ENST00000366709.4_Silent_p.V686V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3567	Ig-like 36.				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)				CAGCCCCTGTGGAGTGGAGAA	0.572																																					p.V3996V													.	.			0			c.G11988T												114	113	114					1																	228480321		2016	4185	6201	SO:0001819	synonymous_variant	84033	exon45			CCCTGTGGAGTGG	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.10701G>T	1.37:g.228480321G>T			185	0	0		168	0.14	24	NM_001271223	3	0.33	1	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																					0.572	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		T	228480321	G	T	228480321	2	4	105	1	0	0	0	0	0	0	0	1	10829	1335	47	3		3	OBSCN	1	228480321	Silent	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10	68094	228480321	20770300	5	7829											
CRIM1	51232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	36623892	36623892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccctttgagtttccaaGtcaggatatgtgcctttcag	9	14	8	10	0	2	1	2	1	0	0	4	2	4	2	3	1	1	1	3	1	3	4			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr2:36623892G>A	ENST00000280527.2	+	2	834	c.467G>A	c.(466-468)aGt>aAt	p.S156N		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	156					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GAGTTTCCAAGTCAGGATATG	0.383																																					p.S156N													.	.			0			c.G467A												140	133	135					2																	36623892		2203	4300	6503	SO:0001583	missense	51232	exon2			TTCCAAGTCAGGA	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.467G>A	2.37:g.36623892G>A	ENSP00000280527:p.Ser156Asn		163	0	0		142	0.15	22	NM_016441	19	0.21	4	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125147	0.37533	.	.	ENSG00000150938	ENST00000280527	T	0.04275	3.66	5.08	5.08	0.68730	.	0.223984	0.44097	D	0.000493	T	0.05227	0.0139	N	0.26042	0.785	0.32894	D	0.512233	B	0.09022	0.002	B	0.09377	0.004	T	0.14615	-1.0466	10	0.30078	T	0.28	-7.1481	17.4683	0.87639	0.0:0.0:1.0:0.0	.	156	Q9NZV1	CRIM1_HUMAN	N	156	ENSP00000280527:S156N	ENSP00000280527:S156N	S	+	2	0	CRIM1	36477396	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	5.122000	0.64697	2.361000	0.80049	0.460000	0.39030	AGT			0.383	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216878.2		NM_016441		A	36623892	G	A	36623892	3	1	105	1	0	0	0	0	1	0	0	0	3875	1029	36	3	473	3	CRIM1	2	36623892	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10		36623892	206575481	6	7830											
GPR45	11250	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	105859305	105859305	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactgctggagaatcaaaaaAttccgcgaggcctgcataga	14	8	10	9	2	1	2	1	0	0	2	2	4	2	2	2	2	3	2	2	2	6	3			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr2:105859305A>T	ENST00000258456.1	+	1	1106	c.990A>T	c.(988-990)aaA>aaT	p.K330N		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	330						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						GAATCAAAAAATTCCGCGAGG	0.557																																					p.K330N													.	.			0			c.A990T												87	92	90					2																	105859305		2203	4300	6503	SO:0001583	missense	11250	exon1			CAAAAAATTCCGC	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.990A>T	2.37:g.105859305A>T	ENSP00000258456:p.Lys330Asn		120	0	0		131	0.08	11	NM_007227	6	0.17	1	Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451686	0.63290	.	.	ENSG00000135973	ENST00000258456	T	0.37411	1.2	4.84	-2.17	0.07059	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	L	0.54323	1.7	0.47065	D	0.999304	D	0.89917	1.0	D	0.78314	0.991	T	0.40961	-0.9535	10	0.52906	T	0.07	-11.1348	11.0662	0.47976	0.5683:0.0:0.4317:0.0	.	330	Q9Y5Y3	GPR45_HUMAN	N	330	ENSP00000258456:K330N	ENSP00000258456:K330N	K	+	3	2	GPR45	105225737	0.995000	0.38212	0.794000	0.32065	0.990000	0.78478	0.461000	0.21940	-0.376000	0.07943	0.374000	0.22700	AAA			0.557	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253348.1		NM_007227		T	105859305	A	T	105859305	3	4	105	1	0	0	0	0	1	0	0	0	6710	98	4	5	992	5	GPR45	2	105859305	Missense_Mutation	SNP	A	TCGA-WZ-A7V4-01A-11D-A435-10	69235413	105859305	137340068	7	7831											
KIAA2018	205717	hgsc.bcm.edu	37	chr3	113376107	113376107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgcttgttgttgttgCtgttgctgctgctgctgctg	0	18	13	10	0	0	0	0	0	0	0	0	0	0	0	1	0	8	11	1	0	0	5			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr3:113376107C>T	ENST00000478658.1	-	5	4439	c.4422G>A	c.(4420-4422)caG>caA	p.Q1474Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1474Q			Q68DE3	K2018_HUMAN	KIAA2018	1474	Gln-rich.					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						gttgttgttgctgttgctgct	0.493																																					p.Q1474Q													KIAA2018,colon,carcinoma,0,1	KIAA2018	0	1	0			c.G4422A												88	96	93					3																	113376107		2193	4279	6472	SO:0001819	synonymous_variant	205717	exon7			TTGTTGCTGTTGC	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.4422G>A	3.37:g.113376107C>T			53	0	0		59	0.1	6	NM_001009899	1	0	0	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																					0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000354591.1		NM_001009899		T	113376107	C	T	113376107	2	4	105	1	0	0	0	0	0	0	0	1	8283	796	28	2		2	KIAA2018	3	113376107	Silent	SNP	C	TCGA-WZ-A7V4-01A-11D-A435-10		113376107	84646323	8	7832											
ZNF721	170960	ucsc.edu	37	chr4	437132	437132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttcttgtgttgattcaggGctgtgtaccgtccaaaggct	6	16	11	8	1	2	1	1	1	1	0	3	1	3	1	2	2	1	4	2	2	2	6			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr4:437132G>T	ENST00000338977.5	-	2	1136	c.1088C>A	c.(1087-1089)gCc>gAc	p.A363D	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.A375D|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	363				A -> D (in Ref. 1; CAH10687). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTGATTCAGGGCTGTGTACCG	0.408																																					p.F375Y													.	ZNF721	205		0			c.T1124A												102	109	106					4																	437132		2141	4276	6417	SO:0001583	missense	170960	exon3			TTCAGGGCTGTGT	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.1088C>A	4.37:g.437132G>T	ENSP00000340524:p.Ala363Asp		93	0	0		86	0.05	4	NM_133474	28	0.29	8	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	G	0.011	-1.694654	0.00731	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07444	3.19;3.19	0.71	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	N	0.02286	-0.61	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.003	B;B;B	0.09377	0.002;0.004;0.002	T	0.43702	-0.9375	9	0.16420	T	0.52	.	0.3204	0.00302	0.2125:0.2447:0.2974:0.2454	.	363;375;375	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	363;375	ENSP00000340524:A363D;ENSP00000428878:A375D	ENSP00000340524:A363D	A	-	2	0	ZNF721	427132	0.000000	0.05858	0.012000	0.15200	0.016000	0.09150	-6.835000	0.00052	-0.929000	0.03757	-1.052000	0.02337	GCC			0.408	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000357939.1		NM_133474		T	437132	G	T	437132	3	4	105	1	0	0	0	0	1	0	0	0	18145	1203	42	2	1651	2	ZNF721	4	437132	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10		437132	190717144	9	7833											
DHX29	54505	hgsc.bcm.edu;bcgsc.ca	37	chr5	54581236	54581236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcatcttcagacttgattAccctaaccctacaaagaagc	14	10	4	13	0	3	3	2	1	1	2	3	3	3	3	2	0	4	0	2	0	5	5			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr5:54581236A>G	ENST00000251636.5	-	10	1389	c.1241T>C	c.(1240-1242)gTa>gCa	p.V414A	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	414						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGACTTGATTACCCTAACCCT	0.373																																					p.V414A													.	.			0			c.T1241C												67	59	62					5																	54581236		2203	4300	6503	SO:0001583	missense	54505	exon10			TTGATTACCCTAA	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1241T>C	5.37:g.54581236A>G	ENSP00000251636:p.Val414Ala		151	0	0		124	0.06	7	NM_019030	20	0.25	5	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.832463	0.50845	.	.	ENSG00000067248	ENST00000251636	T	0.03386	3.95	5.76	5.76	0.90799	.	0.168219	0.53938	D	0.000058	T	0.03608	0.0103	N	0.24115	0.695	0.26791	N	0.969397	P	0.46395	0.877	B	0.40741	0.339	T	0.50285	-0.8846	10	0.16896	T	0.51	.	15.7411	0.77899	1.0:0.0:0.0:0.0	.	414	Q7Z478	DHX29_HUMAN	A	414	ENSP00000251636:V414A	ENSP00000251636:V414A	V	-	2	0	DHX29	54616993	1.000000	0.71417	0.734000	0.30879	0.642000	0.38348	8.437000	0.90302	2.201000	0.70794	0.533000	0.62120	GTA			0.373	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368532.1		NM_019030		G	54581236	A	G	54581236	3	3	105	1	0	0	0	0	1	0	0	0	4508	391	14	4	2940	4	DHX29	5	54581236	Missense_Mutation	SNP	A	TCGA-WZ-A7V4-01A-11D-A435-10		54581236	126334024	10	7834											
ANKHD1	54882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	139907915	139907915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatgctaacttctcatctgGagtaggtaccacagcagctt	10	12	8	11	0	3	0	2	0	2	0	4	1	3	1	1	2	5	5	1	2	3	5			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr5:139907915G>A	ENST00000360839.2	+	29	5538	c.5384G>A	c.(5383-5385)gGa>gAa	p.G1795E	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G1795E|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G1795E|ANKHD1_ENST00000544120.1_Missense_Mutation_p.G178E	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1795						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCATCTGGAGTAGGTACC	0.438																																					p.G1795E													.	.			0			c.G5384A												143	135	137					5																	139907915		2203	4300	6503	SO:0001583	missense	54882	exon29			CATCTGGAGTAGG	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5384G>A	5.37:g.139907915G>A	ENSP00000354085:p.Gly1795Glu		128	0	0		91	0.14	13	NM_017747	67	0.36	24	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.51|12.51	1.960098|1.960098	0.34565|0.34565	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.66460|.	-0.17;-0.21;1.85;1.86;1.44;-0.21|.	5.09|5.09	4.21|4.21	0.49690|0.49690	.|.	0.204155|.	0.43110|.	D|.	0.000605|.	T|.	0.57504|.	0.2058|.	L|L	0.36672|0.36672	1.1|1.1	0.40053|0.40053	D|D	0.975793|0.975793	D;B;B;P;B|.	0.65815|.	0.995;0.319;0.392;0.501;0.18|.	P;B;B;B;B|.	0.61328|.	0.887;0.096;0.149;0.157;0.112|.	T|.	0.56214|.	-0.8016|.	10|.	0.51188|.	T|.	0.08|.	.|.	15.7297|15.7297	0.77792|0.77792	0.0:0.1368:0.8632:0.0|0.0:0.1368:0.8632:0.0	.|.	178;225;1795;1795;1795|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	E|X	1795;1795;1795;451;230;317;178;1795|285;245	ENSP00000354085:G1795E;ENSP00000297183:G1795E;ENSP00000393204:G451E;ENSP00000390034:G317E;ENSP00000437687:G178E;ENSP00000432016:G1795E|.	ENSP00000432016:G1795E|.	G|W	+|+	2|3	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139888099|139888099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.347000|4.347000	0.59373|0.59373	1.360000|1.360000	0.45960|0.45960	0.655000|0.655000	0.94253|0.94253	GGA|TGG			0.438	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000251672.1		NM_017747		A	139907915	G	A	139907915	3	1	105	1	0	0	0	0	1	0	0	0	628	1174	41	3	5604	3	ANKHD1	5	139907915	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10	85326679	139907915	41007345	11	7835											
PCDHA3	56145	ucsc.edu	37	chr5	140182571	140182571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagcgaaggtgcgcgcaGtggatgcagactcaggctac	9	7	16	9	3	1	1	1	0	0	1	1	3	1	2	0	4	4	4	0	4	3	2			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr5:140182571G>T	ENST00000522353.2	+	1	1789	c.1789G>T	c.(1789-1791)Gtg>Ttg	p.V597L	PCDHA3_ENST00000532566.2_Missense_Mutation_p.V597L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	597	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(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)			GGTGCGCGCAGTGGATGCAGA	0.677																																					p.V597L													.	PCDHA3	396		0			c.G1789T												102	99	100					5																	140182571		2203	4300	6503	SO:0001583	missense	56145	exon1			CGCGCAGTGGATG	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.1789G>T	5.37:g.140182571G>T	ENSP00000429808:p.Val597Leu		54	0	0		43	0.09	4	NM_031497	0		0	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	9.629	1.135862	0.21123	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.51817	0.69;0.69	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	0.000000	0.30781	U	0.008884	T	0.45875	0.1364	L	0.35723	1.085	0.18873	N	0.999987	P;P	0.43607	0.717;0.812	B;P	0.50109	0.333;0.631	T	0.38134	-0.9675	10	0.66056	D	0.02	.	8.6292	0.33908	0.0841:0.0:0.7641:0.1518	.	597;597	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	597	ENSP00000429808:V597L;ENSP00000434086:V597L	ENSP00000429808:V597L	V	+	1	0	PCDHA3	140162755	0.709000	0.27886	0.984000	0.44739	0.055000	0.15305	1.023000	0.30065	2.117000	0.64856	0.467000	0.42956	GTG			0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372848.2		NM_018906		T	140182571	G	T	140182571	3	4	105	1	0	0	0	0	1	0	0	0	11542	1029	36	3	1791	3	PCDHA3	5	140182571	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10	274656	140182571	40732689	12	7836											
ERVFRDE1	405754	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr6	11105023	11105023	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaagtaatatttggaggtTtggggaatcttggttgatgg	11	14	15	1	0	1	1	0	1	1	0	1	4	1	3	0	6	0	3	0	6	5	6			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr6:11105023T>A	ENST00000472091.1	-	2	896	c.521A>T	c.(520-522)aAa>aTa	p.K174I	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.K174I|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	174					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						ATTTGGAGGTTTGGGGAATCT	0.443																																					p.K174I													.	.			0			c.A521T												154	168	163					6																	11105023		2203	4300	6503	SO:0001583	missense	405754	exon2			GGAGGTTTGGGGA	AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.521A>T	6.37:g.11105023T>A	ENSP00000420174:p.Lys174Ile		133	0	0		116	0.08	9	NM_207582	1	0	0		Missense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.433184	0.62844	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.15834	2.39;2.39	0.235	0.235	0.15431	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.21416	N	0.999691	P	0.42993	0.797	B	0.40901	0.343	T	0.32666	-0.9898	8	0.66056	D	0.02	.	.	.	.	.	174	P60508	EFRD1_HUMAN	I	174	ENSP00000420174:K174I;ENSP00000444461:K174I	ENSP00000420174:K174I	K	-	2	0	ERVFRD-1	11213009	0.753000	0.28349	0.872000	0.34217	0.873000	0.50193	0.310000	0.19356	0.263000	0.21812	0.260000	0.18958	AAA			0.443	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353776.1		NM_207582		A	11105023	T	A	11105023	3	1	105	1	0	0	0	0	1	0	0	0	5253	1841	64	5	1099	5	ERVFRDE1	6	11105023	Missense_Mutation	SNP	T	TCGA-WZ-A7V4-01A-11D-A435-10		11105023	160010044	13	7837											
HLA-C	3107	ucsc.edu	37	chr6	31238898	31238898	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtatctgcggagccActccacgcacgtgccctcca	7	7	9	18	3	1	0	0	0	1	0	4	1	4	1	5	2	3	2	5	2	1	1	rs281860533|rs201707949|rs281860528	byFrequency	TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr6:31238898A>C	ENST00000376228.5	-	3	585	c.571T>G	c.(571-573)Tgg>Ggg	p.W191G	HLA-C_ENST00000383329.3_Missense_Mutation_p.W191G	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	191	Alpha-2.				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)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|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)	peptide antigen binding (GO:0042605)	p.W191G(2)		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						CTGCGGAGCCACTCCACGCAC	0.677													a|||	46	0.0091853	0.0091	0.0101	5008	,	,		14074	0.0119		0.003	False		,,,				2504	0.0123				p.W191G													HLA-C_ENST00000383329,NS,carcinoma,0,4	HLA-C	92	4	2	Substitution - Missense(2)	prostate(2)	c.T571G												52	41	45					6																	31238898		2201	4297	6498	SO:0001583	missense	3107	exon3			GGAGCCACTCCAC	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.571T>G	6.37:g.31238898A>C	ENSP00000365402:p.Trp191Gly		57	0.0350877193	2		50	0.02	1	NM_002117	2926	0.17	507	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.739|6.739	0.505074|0.505074	0.12822|0.12822	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00014	.|9.21;9.21	2.71|2.71	1.5|1.5	0.22942|0.22942	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|2.640200	.|0.01822	.|U	.|0.034101	T|T	0.00109|0.00109	0.0003|0.0003	M|M	0.77486|0.77486	2.375|2.375	0.09310|0.09310	N|N	1|1	.|P;B;B;B	.|0.44877	.|0.845;0.393;0.152;0.393	.|P;B;B;P	.|0.53450	.|0.726;0.394;0.394;0.474	T|T	0.45366|0.45366	-0.9266|-0.9266	5|10	.|0.66056	.|D	.|0.02	.|.	6.5885|6.5885	0.22634|0.22634	0.7861:0.0:0.0:0.2139|0.7861:0.0:0.0:0.2139	.|.	.|191;191;191;191	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	G|G	190|191;191;191;228	.|ENSP00000365402:W191G;ENSP00000372819:W191G	.|ENSP00000365402:W191G	V|W	-|-	2|1	0|0	HLA-C|HLA-C	31346877|31346877	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	0.361000|0.361000	0.20267|0.20267	0.433000|0.433000	0.26313|0.26313	-1.026000|-1.026000	0.02426|0.02426	GTG|TGG			0.677	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076281.3		NM_002117		C	31238898	A	C	31238898	3	2	105	1	0	0	0	0	1	0	0	0	7212	159	6	4	553	4	HLA-C	6	31238898	Missense_Mutation	SNP	A	TCGA-WZ-A7V4-01A-11D-A435-10	20133875	31238898	139876169	14	7838											
NUP188	23511	ucsc.edu	37	chr9	131735464	131735464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcactgcatgcatgtGtgtctatggactgctctctt	7	13	9	12	0	2	0	0	0	2	0	3	1	2	1	1	1	4	4	1	1	1	2			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr9:131735464G>T	ENST00000372577.2	+	12	1160	c.1139G>T	c.(1138-1140)tGt>tTt	p.C380F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	380					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCATGCATGTGTGTCTATGGA	0.502																																					p.C380F													.	NUP188	140		0			c.G1139T												169	129	143					9																	131735464		2203	4300	6503	SO:0001583	missense	23511	exon12			GCATGTGTGTCTA	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1139G>T	9.37:g.131735464G>T	ENSP00000361658:p.Cys380Phe		46	0	0		37	0.11	4	NM_015354	68	0	0	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836094	0.71373	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.65732	-0.17	5.01	5.01	0.66863	.	0.091610	0.85682	D	0.000000	T	0.68824	0.3043	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.73452	-0.3978	10	0.72032	D	0.01	3.3229	17.7641	0.88471	0.0:0.0:1.0:0.0	.	380	Q5SRE5	NU188_HUMAN	F	269;380	ENSP00000361658:C380F	ENSP00000349125:C269F	C	+	2	0	NUP188	130775285	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	8.787000	0.91830	2.487000	0.83934	0.551000	0.68910	TGT			0.502	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054529.2				T	131735464	G	T	131735464	3	4	105	1	0	0	0	0	1	0	0	0	10775	1377	48	3	1185	3	NUP188	9	131735464	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10		131735464	9477967	15	7839											
C11orf48	79081	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	62434994	62434994	+	Splice_Site	DEL	C	C	-																															gggggagggaacaatacttaCcctcaaagctattaggaggc																										TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr11:62434994delC	ENST00000431002.2	-	2	2350		c.e2+1		C11orf48_ENST00000524958.1_5'Flank|METTL12_ENST00000532971.1_3'UTR|C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000525675.1_5'Flank|C11orf48_ENST00000532208.1_Splice_Site|C11orf48_ENST00000354588.3_Splice_Site|RP11-831H9.11_ENST00000528405.1_5'Flank|SNORA57_ENST00000383870.1_RNA			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48											endometrium(1)|lung(5)|urinary_tract(1)	7						ACAATACTTACCCTCAAAGCT	0.468																																					.													.	C11orf48	18		0			c.538+2G>-												84	87	86					11																	62434994		2202	4299	6501	SO:0001630	splice_region_variant	79081	exon5			TACTTACCCTCAA	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.616+1G>-	11.37:g.62434994delC			142	0	0		134	0.12	16	NM_024099	1	0	0	Q96NA4	Splice_Site	DEL	ENST00000431002.2	37																																																																																						0.468	C11orf48-004	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000395233.1		NM_024099	Intron	-	62434994	C	-	62434994	8	5	105	1	0	1	0	1	0	0	1	0	1646	521	18	0	268	0	C11orf48	11	62434994	Splice_Site	DEL	C	TCGA-WZ-A7V4-01A-11D-A435-10		62434994	72571522	16	7840											
OR8S1	341568	bcgsc.ca	37	chr12	48919659	48919660	+	Missense_Mutation	DNP	TG	TG	CA																															agtcattgtgcccaagatgcTggagaacctcctgtcacaga																								rs35367885|rs4075258|rs71439450	byFrequency	TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	TG	TG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr12:48919659_48919660TG>CA	ENST00000310194.1	+	1	245_246	c.245_246TG>CA	c.(244-246)cTG>cCA	p.L82P	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	82			L -> P (in dbSNP:rs4075258).			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(1)|large_intestine(4)|lung(11)|skin(4)	22						CCCAAGATGCTGGAGAACCTCC	0.485																																					p.L82P													.	OR8S1	47		0			c.G246A																																									SO:0001583	missense	341568	exon1			AGATGCTGGAGAA		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		Exception_encountered	12.37:g.48919659_48919660delinsCA	ENSP00000310632:p.Leu82Pro		136	0.0073529412	1		111	0.09	10	NM_001005203	0		0		Missense_Mutation	DNP	ENST00000310194.1	37	CCDS31789.1																																																																																					0.485	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406881.1				CA	48919660	TG	CA	48919659	3	2	105	1	0	0	0	0	1	0	0	0	11263	1580	55	4	247	4	OR8S1	12	48919659	Missense_Mutation	DNP	TG	TCGA-WZ-A7V4-01A-11D-A435-10		48919659	84932236	17	7841											
C12orf51	283450	hgsc.bcm.edu	37	chr12	112628625	112628625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggaggacggatgtcGgaatggtgtcaggctcatct	8	9	15	9	2	3	0	2	0	1	0	4	4	3	4	1	6	1	2	1	6	1	0	rs151280588		TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr12:112628625G>T	ENST00000430131.2	-	59	9316	c.8171C>A	c.(8170-8172)cCg>cAg	p.P2724Q	HECTD4_ENST00000550722.1_Missense_Mutation_p.P3000Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.P2974Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2724					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)										GACGGATGTCGGAATGGTGTC	0.607																																					p.P3012Q													.	.			0			c.C9035A												44	50	48					12																	112628625		2120	4224	6344	SO:0001583	missense	283450	exon60			GATGTCGGAATGG	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.8171C>A	12.37:g.112628625G>T	ENSP00000404379:p.Pro2724Gln		123	0	0		115	0.04	5	NM_001109662	39	0	0	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	33	5.198855	0.94997	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.50548	0.74;0.75;0.74	5.73	5.73	0.89815	.	.	.	.	.	T	0.55577	0.1929	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.62709	-0.6797	9	0.87932	D	0	.	19.8966	0.96963	0.0:0.0:1.0:0.0	.	2724	Q9Y4D8	K0614_HUMAN	Q	2974;2724;3000	ENSP00000366783:P2974Q;ENSP00000404379:P2724Q;ENSP00000449784:P3000Q	ENSP00000366783:P2974Q	P	-	2	0	C12orf51	111113008	1.000000	0.71417	0.845000	0.33349	0.843000	0.47879	9.422000	0.97458	2.700000	0.92200	0.655000	0.94253	CCG			0.607	HECTD4-202	KNOWN	basic	protein_coding	protein_coding				NM_173813		T	112628625	G	T	112628625	3	4	105	1	0	0	0	0	1	0	0	0	1698	1116	39	1	3887	1	C12orf51	12	112628625	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10	63708966	112628625	21223270	18	7842											
LRRC43	254050	ucsc.edu	37	chr12	122685163	122685164	+	Missense_Mutation	DNP	AA	AA	GG																															gggagaaagacaagaaagggAaggagaaagacaggacgggg																								rs199718757|rs200955000	byFrequency	TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	AA	AA					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr12:122685163_122685164AA>GG	ENST00000339777.4	+	9	1604_1605	c.1576_1577AA>GG	c.(1576-1578)AAg>GGg	p.K526G	LRRC43_ENST00000425921.1_Missense_Mutation_p.K341G|LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	526	Lys-rich.									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)		caagaaagggaaggagaaagac	0.579																																					p.K526G													.	LRRC43	105		0			c.A1577G																																									SO:0001583	missense	254050	exon9			AAAGGGAAGGAGA	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	Exception_encountered	12.37:g.122685163_122685164delinsGG	ENSP00000344233:p.Lys526Gly		52	0	0		64	0.34	22	NM_001098519	2	0	0	Q6ZVT9	Missense_Mutation	DNP	ENST00000339777.4	37	CCDS45001.1																																																																																					0.579	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401589.1		NM_152759		GG	122685164	AA	GG	122685163	3	3	105	1	0	0	0	0	1	0	0	0	9017	247	9	4	1610	4	LRRC43	12	122685163	Missense_Mutation	DNP	AA	TCGA-WZ-A7V4-01A-11D-A435-10	10056538	122685163	11166732	19	7843											
PGAM5	192111	hgsc.bcm.edu;mdanderson.org	37	chr12	133291445	133291445	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtatttcaacatcaggCgagaaccactgtctctgatc	10	13	7	11	1	4	2	2	1	2	1	6	3	4	2	1	1	2	1	1	1	3	3	rs374915398		TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr12:133291445C>T	ENST00000498926.2	+	2	251	c.193C>T	c.(193-195)Cga>Tga	p.R65*	PGAM5_ENST00000543955.1_5'UTR|PGAM5_ENST00000317555.2_Splice_Site_p.R65*|PGAM5_ENST00000454808.2_5'UTR|RP13-672B3.2_ENST00000537262.1_Splice_Site_p.A104V|PXMP2_ENST00000545677.1_Splice_Site_p.A104V	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	65					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CAACATCAGGCGAGAACCACT	0.473																																					p.R65X													.	.			0			c.C193T							C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	124	106	112		193,193,193	2.7	1	12		112	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained-near-splice,stop-gained-near-splice,stop-gained-near-splice	PGAM5	NM_001170543.1,NM_001170544.1,NM_138575.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	65/290,65/289,65/256	133291445	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	192111	exon2			ATCAGGCGAGAAC	BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.192-1C>T	12.37:g.133291445C>T			93	0	0		107	0.09	10	NM_138575	37	0.11	4	A9LN06|C9IZY7|Q96JB0	Nonsense_Mutation	SNP	ENST00000498926.2	37	CCDS53845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.39|17.39	3.377555|3.377555	0.61735|0.61735	0.0|0.0	1.16E-4|1.16E-4	ENSG00000176894;ENSG00000256632|ENSG00000247077	ENST00000545677;ENST00000537262|ENST00000317555;ENST00000498926	.|.	.|.	.|.	4.64|4.64	2.68|2.68	0.31781|0.31781	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.33933|.	0.0880|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13845|.	-1.0494|.	5|.	0.87932|0.02654	D|T	0|1	-22.8648|-22.8648	12.8006|12.8006	0.57584|0.57584	0.3097:0.6903:0.0:0.0|0.3097:0.6903:0.0:0.0	.|.	.|.	.|.	.|.	V|X	104|65	.|.	ENSP00000442747:A104V|ENSP00000321503:R65X	A|R	+|+	2|1	0|2	RP13-672B3.2;PXMP2|PGAM5	131801518|131801518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.490000|0.490000	0.33462|0.33462	2.830000|2.830000	0.48136|0.48136	0.920000|0.920000	0.36970|0.36970	0.462000|0.462000	0.41574|0.41574	GCG|CGA			0.473	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397562.1		NM_138575	Nonsense_Mutation	T	133291445	C	T	133291445	5	4	105	1	0	0	0	0	0	0	1	0	11793	782	27	1	199	1	PGAM5	12	133291445	Splice_Site	SNP	C	TCGA-WZ-A7V4-01A-11D-A435-10	10606282	133291445	560450	20	7844											
PKMYT1	9088	bcgsc.ca	37	chr16	3025413	3025413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacctcaccagctcctgctGtacccagctccaccagcagt	8	7	8	18	0	1	0	1	0	0	0	3	1	3	1	6	1	5	5	6	1	1	1			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr16:3025413G>T	ENST00000262300.8	-	4	1287	c.779C>A	c.(778-780)aCa>aAa	p.T260K	PKMYT1_ENST00000573944.1_Missense_Mutation_p.T251K|PKMYT1_ENST00000440027.2_Missense_Mutation_p.T260K|PKMYT1_ENST00000431515.2_Missense_Mutation_p.T260K|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T251K|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T191K	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGCTCCTGCTGTACCCAGCTC	0.657																																					p.T260K													.	PKMYT1	23		0			c.C779A												37	40	39					16																	3025413		2198	4299	6497	SO:0001583	missense	9088	exon4			CCTGCTGTACCCA	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.779C>A	16.37:g.3025413G>T	ENSP00000262300:p.Thr260Lys		111	0	0		117	0.05	6	NM_182687	135	0	0	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.070215	0.00379	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.41	1.01	0.19927	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.047250	0.07472	N	0.902445	T	0.43634	0.1256	L	0.38692	1.165	0.09310	N	1	B;B;B;B	0.10296	0.003;0.0;0.001;0.002	B;B;B;B	0.17098	0.005;0.007;0.012;0.017	T	0.29518	-1.0009	10	0.05351	T	0.99	1.1777	3.5492	0.07840	0.0778:0.2699:0.3752:0.2771	.	251;191;260;260	A6NHV6;B4DXD4;Q99640;F8W164	.;.;PMYT1_HUMAN;.	K	260;260;260;260;251	ENSP00000392855:T260K;ENSP00000262300:T260K;ENSP00000397739:T260K;ENSP00000371675:T251K	ENSP00000262300:T260K	T	-	2	0	PKMYT1	2965414	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	0.619000	0.24388	-0.022000	0.13986	0.650000	0.86243	ACA			0.657	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000250963.2		NM_004203		T	3025413	G	T	3025413	3	4	105	1	0	0	0	0	1	0	0	0	11995	1377	48	3	782	3	PKMYT1	16	3025413	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10		3025413	87329340	21	7845											
FUK	197258	mdanderson.org	37	chr16	70508475	70508475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgccactatgagggggctgGtcagatcctgatccgccagg	7	7	14	13	2	1	3	1	2	0	1	3	3	3	3	5	4	0	1	5	4	1	1			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr16:70508475G>T	ENST00000288078.6	+	17	2265	c.2033G>T	c.(2032-2034)gGt>gTt	p.G678V	FUK_ENST00000571514.1_Missense_Mutation_p.G169V|FUK_ENST00000378912.2_Missense_Mutation_p.G710V	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	678						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)				GAGGGGGCTGGTCAGATCCTG	0.652																																					p.G678V													.	.			0			c.G2033T												21	26	24					16																	70508475		2004	4151	6155	SO:0001583	missense	197258	exon17			GGGCTGGTCAGAT		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.2033G>T	16.37:g.70508475G>T	ENSP00000288078:p.Gly678Val		28	0	0		23	0.13	3	NM_145059	14	0	0	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113331	0.37339	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.07800	3.19;3.16	5.77	1.78	0.24846	.	0.420263	0.26919	N	0.021839	T	0.04952	0.0133	L	0.38838	1.175	0.80722	D	1	B;P;P	0.43477	0.196;0.808;0.808	B;B;B	0.33121	0.158;0.154;0.154	T	0.44267	-0.9339	10	0.56958	D	0.05	-16.2604	4.4782	0.11753	0.5651:0.1838:0.2511:0.0	.	710;584;678	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	V	678;710	ENSP00000288078:G678V;ENSP00000368192:G710V	ENSP00000288078:G678V	G	+	2	0	FUK	69065976	1.000000	0.71417	0.977000	0.42913	0.991000	0.79684	1.981000	0.40628	0.502000	0.28037	0.655000	0.94253	GGT			0.652	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157291.2		NM_145059		T	70508475	G	T	70508475	3	4	105	1	0	0	0	0	1	0	0	0	6109	1261	44	3	2095	3	FUK	16	70508475	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10	67483062	70508475	19846278	22	7846											
HYDIN	54768	broad.mit.edu	37	chr16	70868034	70868034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacttctttgggcttcaGtgtgatgttgtggaagggcg	7	13	15	6	1	2	2	1	1	1	1	2	3	2	3	0	3	0	2	0	3	1	4	rs202145562		TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr16:70868034G>T	ENST00000393567.2	-	79	13585	c.13435C>A	c.(13435-13437)Ctg>Atg	p.L4479M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4479					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)				TTGGGCTTCAGTGTGATGTTG	0.557																																					p.L4479M													.	HYDIN	788		0			c.C13435A							G	MET/LEU	0,3784		0,0,1892	58	56	56		13432	3	0.8	16		56	5,8225		0,5,4110	no	missense	HYDIN	NM_032821.2	15	0,5,6002	TT,TG,GG		0.0608,0.0,0.0416	possibly-damaging	4478/5121	70868034	5,12009	1892	4115	6007	SO:0001583	missense	54768	exon79			GCTTCAGTGTGAT	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.13435C>A	16.37:g.70868034G>T	ENSP00000377197:p.Leu4479Met		60	0.0166666667	1		49	0.12	6	NM_001270974	0		0	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811995	0.50527	0.0	6.08E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01335	5.0	5.06	3.01	0.34805	.	0.341082	0.15584	N	0.254722	T	0.03220	0.0094	L	0.54323	1.7	0.80722	D	1	P	0.40638	0.725	P	0.49387	0.609	T	0.55166	-0.8183	10	0.49607	T	0.09	.	7.4448	0.27205	0.144:0.0:0.7147:0.1413	.	4478	F8WD23	.	M	4479;4478	ENSP00000377197:L4479M	ENSP00000313052:L4478M	L	-	1	2	HYDIN	69425535	1.000000	0.71417	0.794000	0.32065	0.684000	0.39900	3.438000	0.52871	1.073000	0.40885	0.511000	0.50034	CTG			0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000398624.3				T	70868034	G	T	70868034	3	4	105	1	0	0	0	0	1	0	0	0	7482	1020	36	3	1962	3	HYDIN	16	70868034	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10	359559	70868034	19486719	23	7847											
SENP3	26168	bcgsc.ca	37	chr17	7466636	7466636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagaggaggaagaagaGgaggaggaggaggatgaaga	18	2	21	0	0	0	6	0	2	0	4	0	13	0	13	0	7	0	0	0	7	4	0			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr17:7466636G>A	ENST00000429205.2	+	2	292	c.243G>A	c.(241-243)gaG>gaA	p.E81E	SENP3_ENST00000578868.1_3'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000321337.7_Silent_p.E81E			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	81	Glu-rich.					cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				aggaagaagaggaggaggagg	0.622																																					p.E81E													.	SENP3	18		0			c.G243A																																									SO:0001819	synonymous_variant	26168	exon2			AGAAGAGGAGGAG	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.243G>A	17.37:g.7466636G>A			102	0.0196078431	2		90	0.06	5	NM_015670	131	0.01	1	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Silent	SNP	ENST00000429205.2	37																																																																																						0.622	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015670		A	7466636	G	A	7466636	2	1	105	1	0	0	0	0	0	0	0	1	14071	991	35	3		3	SENP3	17	7466636	Silent	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10		7466636	73728574	24	7848											
FLCN	201163	bcgsc.ca	37	chr17	17118366	17118366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagacaggttctggttggTcagagccgcttcaatcttat	9	12	10	10	1	4	2	2	0	2	2	4	2	4	2	1	3	1	3	1	3	2	4			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr17:17118366T>C	ENST00000285071.4	-	13	1925	c.1471A>G	c.(1471-1473)Acc>Gcc	p.T491A	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	491					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|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 cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTCTGGTTGGTCAGAGCCGCT	0.602									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																												p.T491A													.	FLCN	87		0			c.A1471G												92	83	86					17																	17118366		2203	4300	6503	SO:0001583	missense	201163	exon13	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	GGTTGGTCAGAGC	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1471A>G	17.37:g.17118366T>C	ENSP00000285071:p.Thr491Ala		88	0	0		64	0.08	5	NM_144997	80	0	0	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483047	0.26598	.	.	ENSG00000154803	ENST00000285071	D	0.92348	-3.02	5.36	4.28	0.50868	.	0.096735	0.64402	D	0.000001	T	0.78773	0.4336	N	0.03608	-0.345	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.70306	-0.4908	10	0.09084	T	0.74	-25.5544	11.2889	0.49239	0.0:0.0719:0.0:0.9281	.	491	Q8NFG4	FLCN_HUMAN	A	491	ENSP00000285071:T491A	ENSP00000285071:T491A	T	-	1	0	FLCN	17059091	1.000000	0.71417	0.999000	0.59377	0.719000	0.41307	4.472000	0.60189	0.991000	0.38814	0.533000	0.62120	ACC			0.602	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131577.1		NM_144606		C	17118366	T	C	17118366	3	2	105	1	0	0	0	0	1	0	0	0	5934	1667	58	4	276	4	FLCN	17	17118366	Missense_Mutation	SNP	T	TCGA-WZ-A7V4-01A-11D-A435-10	9651730	17118366	64076844	25	7849											
NPC1	4864	ucsc.edu;bcgsc.ca	37	chr18	21114422	21114422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcacggagctgcccatGtgggcaagtgcctcttccgc	6	9	12	14	2	2	0	1	0	1	0	3	1	3	1	3	2	4	3	3	2	2	2			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr18:21114422G>T	ENST00000269228.5	-	23	4133	c.3579C>A	c.(3577-3579)caC>caA	p.H1193Q	NPC1_ENST00000412552.2_Missense_Mutation_p.H875Q	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1193					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGCTGCCCATGTGGGCAAGTG	0.597																																					p.H1193Q													.	NPC1	114		0			c.C3579A												61	53	56					18																	21114422		2203	4300	6503	SO:0001583	missense	4864	exon23			GCCCATGTGGGCA	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3579C>A	18.37:g.21114422G>T	ENSP00000269228:p.His1193Gln		57	0	0		53	0.09	5	NM_000271	94	0	0	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270441	0.40194	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.84873	-1.91;-1.91	5.84	4.97	0.65823	.	0.231620	0.51477	D	0.000095	T	0.76659	0.4018	L	0.35593	1.075	0.80722	D	1	B;B	0.14012	0.008;0.009	B;B	0.19666	0.026;0.026	T	0.69269	-0.5189	10	0.20046	T	0.44	-14.6805	10.8001	0.46483	0.1434:0.0:0.8566:0.0	.	1204;1193	Q59GR1;O15118	.;NPC1_HUMAN	Q	1193;875	ENSP00000269228:H1193Q;ENSP00000408606:H875Q	ENSP00000269228:H1193Q	H	-	3	2	NPC1	19368420	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	3.040000	0.49799	1.469000	0.48083	0.643000	0.83706	CAC			0.597	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254823.2		NM_000271		T	21114422	G	T	21114422	3	4	105	1	0	0	0	0	1	0	0	0	10587	1368	48	3	269	3	NPC1	18	21114422	Missense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10		21114422	56962826	26	7850											
GPR108	56927	hgsc.bcm.edu	37	chr19	6737580	6737580	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccccctcctctcgctcActgccatctctggagccacc	5	8	7	21	2	3	0	1	0	2	0	6	2	4	1	6	1	3	1	6	1	0	0			TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr19:6737580A>C	ENST00000264080.7	-	1	34	c.8T>G	c.(7-9)gTg>gGg	p.V3G	TRIP10_ENST00000313244.9_5'Flank|TRIP10_ENST00000596758.1_5'Flank|TRIP10_ENST00000313285.8_5'Flank|TRIP10_ENST00000600428.1_5'Flank|GPR108_ENST00000430424.4_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	3						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTCTCGCTCACTGCCATCTC	0.736																																					p.V3G													.	.			0			c.T8G												4	8	7					19																	6737580		1774	3879	5653	SO:0001583	missense	56927	exon1			TCGCTCACTGCCA		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.8T>G	19.37:g.6737580A>C	ENSP00000264080:p.Val3Gly		6	0	0		17	0.29	5	NM_001080452	6	0.17	1	B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	17.94|17.94	3.512348|3.512348	0.64522|0.64522	.|.	.|.	ENSG00000125734|ENSG00000125734	ENST00000549846|ENST00000264080	.|T	.|0.25912	.|1.77	4.16|4.16	-1.1|-1.1	0.09872|0.09872	.|.	.|0.470653	.|0.15619	.|U	.|0.252989	T|T	0.20414|0.20414	0.0491|0.0491	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.05649|0.05649	-1.0872|-1.0872	5|10	.|0.33141	.|T	.|0.24	-5.7848|-5.7848	4.8976|4.8976	0.13759|0.13759	0.324:0.1597:0.0:0.5162|0.324:0.1597:0.0:0.5162	.|.	.|3	.|Q9NPR9	.|GP108_HUMAN	R|G	2|3	.|ENSP00000264080:V3G	.|ENSP00000264080:V3G	S|V	-|-	3|2	2|0	GPR108|GPR108	6688580|6688580	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	0.214000|0.214000	0.17541|0.17541	-0.117000|-0.117000	0.11872|0.11872	-0.373000|-0.373000	0.07131|0.07131	AGT|GTG			0.736	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407508.2				C	6737580	A	C	6737580	3	2	105	1	0	0	0	0	1	0	0	0	6638	159	6	4	1695	4	GPR108	19	6737580	Missense_Mutation	SNP	A	TCGA-WZ-A7V4-01A-11D-A435-10		6737580	52391403	27	7851											
FKBP8	23770	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	18650505	18650505	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggcggccctgggaccagCgtcttcttcctcaacagccc	5	8	10	18	2	3	0	1	0	2	0	4	1	4	1	5	3	3	0	5	3	1	2	rs370114965		TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr19:18650505C>A	ENST00000596558.2	-	3	427	c.318G>T	c.(316-318)acG>acT	p.T106T	FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000222308.4_Silent_p.T106T|FKBP8_ENST00000608443.1_Silent_p.T106T|FKBP8_ENST00000453489.2_Silent_p.T135T|FKBP8_ENST00000597960.3_Silent_p.T106T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	106					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						CTGGGACCAGCGTCTTCTTCC	0.667																																					p.T106T													FKBP8,NS,carcinoma,0,1	FKBP8	0	1	0			c.G318T												110	116	114					19																	18650505		2203	4300	6503	SO:0001819	synonymous_variant	23770	exon3			GACCAGCGTCTTC	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.318G>T	19.37:g.18650505C>A			31	0	0		35	0.14	5	NM_012181	401	0.22	87	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37																																																																																						0.667	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000466374.3		NM_012181		A	18650505	C	A	18650505	2	1	105	1	0	0	0	0	0	0	0	1	5927	755	27	1		1	FKBP8	19	18650505	Silent	SNP	C	TCGA-WZ-A7V4-01A-11D-A435-10	11912925	18650505	40478478	28	7852											
CDH22	64405	broad.mit.edu;mdanderson.org	37	chr20	44839036	44839036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctgcacctccaggaggCcggagggcggccggaactcg	6	4	15	16	4	0	0	0	0	0	0	3	3	2	3	6	6	2	1	6	6	1	0	rs573144704		TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr20:44839036C>T	ENST00000372262.3	-	6	1596	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	CDH22_ENST00000537909.1_Missense_Mutation_p.G399D|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	399	Cadherin 4. {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)				CTCCAGGAGGCCGGAGGGCGG	0.766													C|||	1	0.000199681	0	0.0014	5008	,	,		11168	0		0	False		,,,				2504	0				p.G399D													.	CDH22	112		0			c.G1196A																																									SO:0001583	missense	64405	exon7			AGGAGGCCGGAGG	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.1196G>A	20.37:g.44839036C>T	ENSP00000361336:p.Gly399Asp		39	0	0		36	0.14	5	NM_021248	1	0	0	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056400	0.55325	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.60672	0.17;0.17	3.96	3.96	0.45880	Cadherin (2);Cadherin-like (1);	0.189523	0.44483	D	0.000445	T	0.36468	0.0968	N	0.11427	0.14	0.25298	N	0.989307	B	0.31611	0.331	B	0.32928	0.155	T	0.35475	-0.9787	10	0.66056	D	0.02	.	8.8653	0.35282	0.0:0.8829:0.0:0.1171	.	399	Q9UJ99	CAD22_HUMAN	D	399	ENSP00000361336:G399D;ENSP00000437790:G399D	ENSP00000361336:G399D	G	-	2	0	CDH22	44272443	0.947000	0.32204	1.000000	0.80357	0.913000	0.54294	2.593000	0.46180	2.059000	0.61396	0.555000	0.69702	GGC			0.766	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080491.1		NM_021248		T	44839036	C	T	44839036	3	4	105	1	0	0	0	0	1	0	0	0	3109	739	26	2	1314	2	CDH22	20	44839036	Missense_Mutation	SNP	C	TCGA-WZ-A7V4-01A-11D-A435-10		44839036	18186484	29	7853											
THOC5	8563	broad.mit.edu	37	chr22	29932681	29932681	+	Frame_Shift_Del	DEL	G	G	-																															cttcacctcaatctccttgaGaatcttctccttgttagata																										TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chr22:29932681delG	ENST00000490103.1	-	7	768	c.646delC	c.(646-648)ctcfs	p.L216fs	THOC5_ENST00000397872.1_Frame_Shift_Del_p.L216fs|THOC5_ENST00000397873.2_Frame_Shift_Del_p.L216fs|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Frame_Shift_Del_p.L216fs	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	216					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)	p.L216V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCTCCTTGAGAATCTTCTCC	0.537																																					p.L216fs													THOC5,NS,carcinoma,0,2	THOC5	58	2	1	Substitution - Missense(1)	breast(1)	c.646delC												188	156	167					22																	29932681		2203	4300	6503	SO:0001589	frameshift_variant	8563	exon8			CCTTGAGAATCTT	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.646delC	22.37:g.29932681delG	ENSP00000420306:p.Leu216fs		124	0	0		105	0.09	9	NM_001002878	92	0.13	12	O60839|Q9UPZ5	Frame_Shift_Del	DEL	ENST00000490103.1	37	CCDS13859.1																																																																																					0.537	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322097.1		NM_003678		-	29932681	G	-	29932681	7	5	105	1	0	1	0	1	0	0	0	0	15891	942	33	0	1461	0	THOC5	22	29932681	Frame_Shift_Del	DEL	G	TCGA-WZ-A7V4-01A-11D-A435-10		29932681	21371885	30	7854											
KDM6A	7403	broad.mit.edu	37	chrX	44918601	44918602	+	Frame_Shift_Del	DEL	TA	TA	-																															ggatggacctaggcactctcTatgaatcctgcaaccagcct																										TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chrX:44918601_44918602delTA	ENST00000377967.4	+	12	1125_1126	c.1084_1085delTA	c.(1084-1086)tatfs	p.Y362fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.Y362fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.Y362fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.Y362fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	362	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGGCACTCTCTATGAATCCTGC	0.455			"D, N, F, S"		"renal, oesophageal SCC, MM"																																p.362_362del	Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	.	KDM6A	274		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	c.1084_1085del																																									SO:0001589	frameshift_variant	7403	exon12			ACTCTCTATGAAT	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.1084_1085delTA	X.37:g.44918601_44918602delTA	ENSP00000367203:p.Tyr362fs		205	0	0		208	0.03	7	NM_021140	30	0	0	Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	CCDS14265.1																																																																																					0.455	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056324.1		NM_021140		-	44918602	TA	-	44918601	7	5	105	1	0	1	0	1	0	0	0	0	8152	1522	53	0	1130	0	KDM6A	23	44918601	Frame_Shift_Del	DEL	TA	TCGA-WZ-A7V4-01A-11D-A435-10		44918601	110351959	31	7855											
FAM104B	90736	ucsc.edu	37	chrX	55172630	55172630	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacccctcatgcaagaactGgggaaagtttgcatcgggtt	11	10	11	9	1	1	1	1	0	0	1	2	2	1	2	2	3	4	4	2	3	4	3	rs113263757		TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chrX:55172630G>A	ENST00000358460.4	-	3	388	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000332132.4_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.Q76*|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.Q78*			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	79										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TGCAAGAACTGGGGAAAGTTT	0.493																																					p.Q80X													.	FAM104B	28		0			c.C238T												127	104	112					X																	55172630		2203	4300	6503	SO:0001587	stop_gained	90736	exon3			AGAACTGGGGAAA	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.235C>T	X.37:g.55172630G>A	ENSP00000364101:p.Gln79*		38	0.0526315789	2		37	0.19	7	NM_001166699	66	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	11.17	1.559418	0.27827	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.6	1.6	0.23607	.	0.325359	0.21941	U	0.066869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.2487	6.0913	0.19995	0.0:0.0:1.0:0.0	.	.	.	.	X	79;80;80;76;78	.	ENSP00000333394:Q80X	Q	-	1	0	FAM104B	55189355	0.905000	0.30787	0.015000	0.15790	0.033000	0.12548	1.600000	0.36762	1.084000	0.41184	0.436000	0.28706	CAG			0.493	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		A	55172630	G	A	55172630	4	1	105	1	0	0	0	0	0	1	0	0	5396	1357	47	3	217	3	FAM104B	23	55172630	Nonsense_Mutation	SNP	G	TCGA-WZ-A7V4-01A-11D-A435-10	10254029	55172630	100097930	32	7856			1	15		2	2	16	N	G_C	1.598992e-05
FAM104B	90736	ucsc.edu;mdanderson.org	37	chrX	55172645	55172645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaactggggaaagtttgcatCgggttcagtaacaatctggt	11	11	13	6	1	2	0	1	0	1	0	3	2	2	1	0	4	3	4	0	4	4	3	rs1047042	byFrequency	TCGA-WZ-A7V4-01A-11D-A435-10	TCGA-WZ-A7V4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a7bea22d-c914-41c9-bb43-0b1785b36b5b	5d280fa0-3f46-444a-8d3f-bc1be8090d47	g.chrX:55172645C>G	ENST00000358460.4	-	3	373	c.220G>C	c.(220-222)Gat>Cat	p.D74H	FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000425133.2_Missense_Mutation_p.D75H|FAM104B_ENST00000332132.4_Missense_Mutation_p.D75H|FAM104B_ENST00000477847.2_Missense_Mutation_p.D71H|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.D73H			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	74				D -> V (in Ref. 1; BAG61768). {ECO:0000305}.						endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AAGTTTGCATCGGGTTCAGTA	0.468													C|||	5	0.0013245	0.0023	0	3775	,	,		14416	0		0	False		,,,				2504	0.002				p.D75H													.	FAM104B	28		0			c.G223C												136	110	119					X																	55172645		2203	4300	6503	SO:0001583	missense	90736	exon3			TTGCATCGGGTTC	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.220G>C	X.37:g.55172645C>G	ENSP00000364101:p.Asp74His		38	0.0263157895	1		39	0.21	8	NM_001166699	77	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	3.193	-0.165363	0.06461	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	1.59	-1.04	0.10068	.	0.505297	0.17523	U	0.171170	T	0.25044	0.0608	N	0.14661	0.345	0.09310	N	1	B;P;P	0.46859	0.002;0.774;0.885	B;P;B	0.46479	0.001;0.518;0.241	T	0.15065	-1.0450	10	0.56958	D	0.05	-1.547	4.2247	0.10575	0.0:0.4679:0.0:0.5321	.	75;74;75	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	H	74;75;75;71;73	ENSP00000364101:D74H;ENSP00000333394:D75H;ENSP00000397188:D75H;ENSP00000421161:D71H;ENSP00000423164:D73H	ENSP00000333394:D75H	D	-	1	0	FAM104B	55189370	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.019000	0.12546	-0.355000	0.08199	-0.556000	0.04195	GAT			0.468	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		G	55172645	C	G	55172645	3	3	105	1	0	0	0	0	1	0	0	0	5396	884	31	5	232	5	FAM104B	23	55172645	Missense_Mutation	SNP	C	TCGA-WZ-A7V4-01A-11D-A435-10	15	55172645	100097915	33	7857			1	15		2	2	16	N	G_C	1.598992e-05
PHC2	1912	mdanderson.org	37	chr1	33820462	33820462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaagcaggctgcagttGtaagatgacagctgaagtgt	11	10	15	5	0	0	4	0	3	0	1	0	4	0	4	0	2	3	6	0	2	3	2	rs139804561		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr1:33820462G>T	ENST00000257118.5	-	7	1422	c.1369C>A	c.(1369-1371)Caa>Aaa	p.Q457K	PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.Q428K|RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000419414.2_Missense_Mutation_p.Q457K|PHC2_ENST00000373422.3_Missense_Mutation_p.Q62K	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	457					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGCAGTTGTAAGATGACA	0.622																																					p.Q457K													.	.			0			c.C1369A												68	59	62					1																	33820462		2203	4300	6503	SO:0001583	missense	1912	exon7			GCAGTTGTAAGAT	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1369C>A	1.37:g.33820462G>T	ENSP00000257118:p.Gln457Lys		51	0	0		40	0.08	3	NM_198040	1	0	0	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407478	0.42715	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000419414	T;T;T;T	0.52057	1.84;1.42;0.68;1.87	5.59	5.59	0.84812	.	0.536654	0.18860	N	0.129174	T	0.65186	0.2667	M	0.66939	2.045	0.80722	D	1	D;D;D	0.54964	0.969;0.969;0.969	D;D;D	0.64877	0.93;0.93;0.93	T	0.62096	-0.6926	10	0.40728	T	0.16	-0.9959	15.0973	0.72244	0.0:0.0:1.0:0.0	.	457;428;457	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	K	428;457;62;457	ENSP00000389436:Q428K;ENSP00000257118:Q457K;ENSP00000362521:Q62K;ENSP00000391440:Q457K	ENSP00000257118:Q457K	Q	-	1	0	PHC2	33593049	1.000000	0.71417	0.697000	0.30258	0.046000	0.14306	4.888000	0.63164	2.629000	0.89072	0.591000	0.81541	CAA			0.622	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000011895.1		NM_198040		T	33820462	G	T	33820462	3	4	106	1	0	0	0	0	1	0	0	0	11834	1386	48	3	1239	3	PHC2	1	33820462	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		33820462	215430159	1	7858											
STK40	83931	mdanderson.org	37	chr1	36820843	36820843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgcggaccacgtcgtaGaagattaccacagtctccct	11	7	8	15	4	1	2	0	0	1	2	3	3	1	3	4	1	1	1	4	1	3	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr1:36820843G>T	ENST00000373129.3	-	6	940	c.534C>A	c.(532-534)ttC>ttA	p.F178L	STK40_ENST00000373132.3_Missense_Mutation_p.F178L|STK40_ENST00000373130.3_Missense_Mutation_p.F183L|STK40_ENST00000482458.1_5'Flank|STK40_ENST00000359297.2_Missense_Mutation_p.F178L	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCACGTCGTAGAAGATTACCA	0.582																																					p.F178L													.	.			0			c.C534A												160	134	143					1																	36820843		2203	4300	6503	SO:0001583	missense	83931	exon6			GTCGTAGAAGATT	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.534C>A	1.37:g.36820843G>T	ENSP00000362221:p.Phe178Leu		48	0	0		44	0.07	3	NM_032017	32	0	0	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	CCDS407.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887004	0.72410	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.72615	-0.67;-0.12;-0.12;-0.67	5.62	3.74	0.42951	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	0.78679	0.4321	L	0.61218	1.895	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.77146	-0.2695	10	0.66056	D	0.02	-22.0969	6.6252	0.22826	0.1604:0.0:0.6929:0.1467	.	178;183;178	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	L	178;178;183;178	ENSP00000362221:F178L;ENSP00000352245:F178L;ENSP00000362222:F183L;ENSP00000362224:F178L	ENSP00000352245:F178L	F	-	3	2	STK40	36593430	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	4.432000	0.59922	0.716000	0.32124	-0.321000	0.08615	TTC			0.582	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000022592.1		NM_032017		T	36820843	G	T	36820843	3	4	106	1	0	0	0	0	1	0	0	0	15330	933	33	3	801	3	STK40	1	36820843	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	3000381	36820843	212429778	2	7859											
PFKFB2	5208	ucsc.edu	37	chr1	207252307	207252307	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcgtaggcagcagaGaccacactggctgtgcgcag	8	7	14	12	2	1	1	0	0	1	1	2	2	1	1	1	3	2	6	1	3	1	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr1:207252307G>T	ENST00000367080.3	+	0	7094				PFKFB2_ENST00000541914.1_Missense_Mutation_p.E246D|PFKFB2_ENST00000411990.2_Missense_Mutation_p.E355D|PFKFB2_ENST00000367079.2_Missense_Mutation_p.E453D|PFKFB2_ENST00000473310.1_3'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AGGCAGCAGAGACCACACTGG	0.542																																					p.E453D													.	PFKFB2	70		0			c.G1359T												140	127	131					1																	207252307		2203	4300	6503	SO:0001628	intergenic_variant	5208	exon15			AGCAGAGACCACA		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033		1.37:g.207252307G>T			38	0	0		37	0.11	4	NM_001018053	2	0	0	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	3.675	-0.066814	0.07273	.	.	ENSG00000123836	ENST00000411990;ENST00000367079;ENST00000541914	.	.	.	5.0	-5.53	0.02552	.	.	.	.	.	T	0.07908	0.0198	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.20887	0.0;0.0;0.049	B;B;B	0.23275	0.0;0.0;0.045	T	0.31223	-0.9951	8	0.11485	T	0.65	.	1.41	0.02289	0.162:0.2215:0.1787:0.4378	.	246;355;453	B4DI16;B4DY91;Q5VVQ3	.;.;.	D	355;453;246	.	ENSP00000356046:E453D	E	+	3	2	PFKFB2	205318930	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.413000	0.07123	-0.948000	0.03668	-0.868000	0.02995	GAG			0.542	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087838.1				T	207252307	G	T	207252307	1	4	106	0	1	0	0	0	0	0	0	0	11778	933	33	3		3	PFKFB2	1	207252307	IGR	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	170431464	207252307	41998314	3	7860											
BIRC6	57448	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	32690146	32690146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctagaatccacttggttCtggtctagcccttgcaattt	7	15	8	11	0	3	1	0	0	3	1	4	1	4	1	2	2	2	3	2	2	4	6			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr2:32690146C>G	ENST00000421745.2	+	26	5404	c.5270C>G	c.(5269-5271)tCt>tGt	p.S1757C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1757					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)					CCACTTGGTTCTGGTCTAGCC	0.328																																					p.S1757C	Pancreas(94;175 1509 16028 18060 45422)												.	BIRC6	838		0			c.C5270G												59	58	59					2																	32690146		2203	4299	6502	SO:0001583	missense	57448	exon26			TTGGTTCTGGTCT	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.5270C>G	2.37:g.32690146C>G	ENSP00000393596:p.Ser1757Cys		510	0.0019607843	1		657	0.23	149	NM_016252	44	0.3	13	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281415	0.59758	.	.	ENSG00000115760	ENST00000421745	T	0.75589	-0.95	5.92	5.92	0.95590	.	0.215721	0.41823	D	0.000813	T	0.71617	0.3361	L	0.47716	1.5	0.51767	D	0.999936	P	0.40000	0.698	B	0.37091	0.241	T	0.74542	-0.3631	10	0.72032	D	0.01	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	1757	Q9NR09	BIRC6_HUMAN	C	1757	ENSP00000393596:S1757C	ENSP00000393596:S1757C	S	+	2	0	BIRC6	32543650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.498000	0.73679	2.810000	0.96702	0.650000	0.86243	TCT			0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318769.3		NM_016252		G	32690146	C	G	32690146	3	3	106	1	0	0	0	0	1	0	0	0	1438	913	32	5	5372	5	BIRC6	2	32690146	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10		32690146	210509227	4	7861											
XPO1	7514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	61708414	61708414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaagagctttacttgaGcactgcaaatcaaaacacaa	18	8	5	10	0	2	2	2	1	0	1	2	2	2	2	0	0	5	3	0	0	6	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr2:61708414G>C	ENST00000401558.2	-	24	3702	c.2975C>G	c.(2974-2976)gCt>gGt	p.A992G	RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000603199.1_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.A992G|XPO1_ENST00000404992.2_Missense_Mutation_p.A992G|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	992					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTTTACTTGAGCACTGCAAAT	0.378			Mis		CLL																																p.A992G			-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	.	.			0			c.C2975G												51	51	51					2																	61708414		2203	4300	6503	SO:0001583	missense	7514	exon24			ACTTGAGCACTGC	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2975C>G	2.37:g.61708414G>C	ENSP00000384863:p.Ala992Gly		295	0	0		289	0.11	32	NM_003400	618	0.18	114	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180369	0.57800	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66995	-0.24;-0.24;-0.24	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.56199	1.76	0.80722	D	1	B;B	0.19200	0.0;0.034	B;B	0.18263	0.001;0.021	T	0.58691	-0.7592	10	0.31617	T	0.26	-14.5188	19.8764	0.96873	0.0:0.0:1.0:0.0	.	639;992	B3KWD0;O14980	.;XPO1_HUMAN	G	992	ENSP00000384863:A992G;ENSP00000385942:A992G;ENSP00000385559:A992G	ENSP00000384863:A992G	A	-	2	0	XPO1	61561918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.726000	0.98782	2.768000	0.95171	0.655000	0.94253	GCT			0.378	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325872.3		NM_003400		C	61708414	G	C	61708414	3	2	106	1	0	0	0	0	1	0	0	0	17469	971	34	5	248	5	XPO1	2	61708414	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	29018268	61708414	181490959	5	7862											
CWC22	57703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	180810353	180810353	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtcttctttctttttGtttcctatcatttgtttgct	2	27	4	8	0	5	0	1	0	4	0	6	0	6	0	1	0	1	3	1	0	1	10			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr2:180810353G>C	ENST00000410053.3	-	20	2529	c.2230C>G	c.(2230-2232)Caa>Gaa	p.Q744E	CWC22_ENST00000295749.6_Missense_Mutation_p.Q744E	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	744					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CTTTCTTTTTGTTTCCTATCA	0.388																																					p.Q744E													.	.			0			c.C2230G												119	110	113					2																	180810353		1855	4095	5950	SO:0001583	missense	57703	exon20			CTTTTTGTTTCCT		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2230C>G	2.37:g.180810353G>C	ENSP00000387006:p.Gln744Glu		92	0	0		90	0.12	11	NM_020943	239	0.27	65	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	G	4.950	0.176402	0.09443	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.21543	2.27;2.27;2.0	5.02	4.12	0.48240	.	1.156650	0.06053	N	0.656875	T	0.16257	0.0391	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27606	-1.0069	10	0.26408	T	0.33	-1.1062	6.0864	0.19970	0.1:0.0:0.7109:0.1891	.	744	Q9HCG8	CWC22_HUMAN	E	744	ENSP00000387006:Q744E;ENSP00000295749:Q744E;ENSP00000384159:Q744E	ENSP00000295749:Q744E	Q	-	1	0	CWC22	180518598	0.298000	0.24417	0.675000	0.29917	0.305000	0.27757	1.816000	0.38992	1.195000	0.43115	0.655000	0.94253	CAA			0.388	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000334537.1		NM_020943		C	180810353	G	C	180810353	3	2	106	1	0	0	0	0	1	0	0	0	4070	1386	48	5	500	5	CWC22	2	180810353	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	119101939	180810353	62389020	6	7863											
ITGA4	3676	mdanderson.org	37	chr2	182350641	182350641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaatggaaacaaacctcGttggaagtgacaaatatgct	16	9	9	7	1	0	1	0	1	0	0	1	3	0	3	1	2	4	3	1	2	6	2	rs35419274		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr2:182350641G>T	ENST00000397033.2	+	10	1505	c.1075G>T	c.(1075-1077)Gtt>Ttt	p.V359F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	359					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|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)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AACAAACCTCGTTGGAAGTGA	0.368																																					p.V359F													.	.			0			c.G1075T												157	148	151					2																	182350641		1860	4110	5970	SO:0001583	missense	3676	exon10			AACCTCGTTGGAA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1075G>T	2.37:g.182350641G>T	ENSP00000380227:p.Val359Phe		93	0	0		89	0.04	4	NM_000885	23	0	0	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886596	0.33348	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.11277	2.79;2.79	5.87	-1.47	0.08772	.	0.823951	0.11454	N	0.562509	T	0.09379	0.0231	L	0.41632	1.29	0.09310	N	1	P;P	0.40266	0.64;0.71	B;B	0.43658	0.426;0.187	T	0.24190	-1.0167	10	0.45353	T	0.12	.	3.2132	0.06690	0.4355:0.1113:0.3444:0.1087	.	359;359	E7EP60;P13612	.;ITA4_HUMAN	F	359	ENSP00000380227:V359F;ENSP00000233573:V359F	ENSP00000233573:V359F	V	+	1	0	ITGA4	182058886	0.000000	0.05858	0.955000	0.39395	0.905000	0.53344	0.183000	0.16919	-0.085000	0.12573	-0.438000	0.05819	GTT			0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334427.1				T	182350641	G	T	182350641	3	4	106	1	0	0	0	0	1	0	0	0	7893	1145	40	1	1113	1	ITGA4	2	182350641	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	1540288	182350641	60848732	7	7864											
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	228884665	228884665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactgtgatggcttggctGagggatctagactctgcaag	8	11	13	9	0	2	3	0	2	2	1	3	4	3	4	1	3	1	3	1	3	2	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr2:228884665G>A	ENST00000392056.3	-	7	951	c.905C>T	c.(904-906)tCa>tTa	p.S302L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S302L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	302						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGCTTGGCTGAGGGATCTAG	0.403																																					p.S302L													.	.			0			c.C905T												213	221	218					2																	228884665		2203	4300	6503	SO:0001583	missense	80309	exon7			TTGGCTGAGGGAT		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.905C>T	2.37:g.228884665G>A	ENSP00000375909:p.Ser302Leu		118	0	0		168	0.11	18	NM_030623	0		0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253253	0.05829	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12569	2.67;2.67	5.6	2.77	0.32553	.	1.081400	0.07012	N	0.825341	T	0.15565	0.0375	L	0.55103	1.725	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.13407	0.004;0.009	T	0.35176	-0.9799	10	0.26408	T	0.33	.	9.569	0.39416	0.2267:0.0:0.7733:0.0	.	302;302	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	L	302	ENSP00000375909:S302L;ENSP00000339886:S302L	ENSP00000339886:S302L	S	-	2	0	SPHKAP	228592909	0.007000	0.16637	0.002000	0.10522	0.005000	0.04900	1.559000	0.36320	0.707000	0.31934	-0.145000	0.13849	TCA			0.403	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000331750.1		NM_030623		A	228884665	G	A	228884665	3	1	106	1	0	0	0	0	1	0	0	0	15071	1294	45	3	4221	3	SPHKAP	2	228884665	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	46534024	228884665	14314708	8	7865											
TREX1	11277	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	48508121	48508121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgacatggaggccactGgcttgcccttctcccagccc	5	11	9	16	1	1	0	0	0	1	0	3	2	1	1	4	3	2	1	4	3	0	4			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr3:48508121G>A	ENST00000422277.2	+	1	893	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	TREX1_ENST00000436480.2_Missense_Mutation_p.G23S|TREX1_ENST00000296443.9_Missense_Mutation_p.G23S|TREX1_ENST00000444177.1_Missense_Mutation_p.G13S|TREX1_ENST00000492235.1_Intron|TREX1_ENST00000456089.1_Intron|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000433541.1_Intron	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	78					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)		GGAGGCCACTGGCTTGCCCTT	0.662																																					p.G78S													.	.			0			c.G232A												105	120	115					3																	48508121		2203	4300	6503	SO:0001583	missense	11277	exon1			GCCACTGGCTTGC	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.232G>A	3.37:g.48508121G>A	ENSP00000390478:p.Gly78Ser		110	0	0		128	0.07	9	NM_016381	43	0.07	3	B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861071	0.91433	.	.	ENSG00000213689	ENST00000296443;ENST00000436480;ENST00000422277;ENST00000444177	D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41	5.26	5.26	0.73747	Ribonuclease H-like (1);	0.000000	0.48767	U	0.000174	D	0.99127	0.9699	M	0.72894	2.215	0.42572	D	0.993183	D	0.89917	1.0	D	0.97110	1.0	D	0.99859	1.1081	10	0.62326	D	0.03	.	16.3593	0.83251	0.0:0.0:1.0:0.0	.	78	Q9NSU2	TREX1_HUMAN	S	23;23;78;13	ENSP00000296443:G23S;ENSP00000392569:G23S;ENSP00000390478:G78S;ENSP00000415972:G13S	ENSP00000296443:G23S	G	+	1	0	TREX1	48483125	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.314000	0.72848	2.452000	0.82932	0.655000	0.94253	GGC			0.662	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_016381		A	48508121	G	A	48508121	3	1	106	1	0	0	0	0	1	0	0	0	16500	1348	47	3	234	3	TREX1	3	48508121	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		48508121	149514309	9	7866											
KLHDC8B	200942	mdanderson.org	37	chr3	49213207	49213207	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagtcaagccgtggaGgcactgtgtctgcgtgatgg	6	8	16	11	2	2	1	1	1	1	0	2	2	2	2	3	4	2	1	3	4	1	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr3:49213207G>A	ENST00000332780.2	+	6	1247	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	C3orf84_ENST00000443990.1_5'Flank	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	346						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)		AAGCCGTGGAGGCACTGTGTC	0.617																																					p.E346E													.	.			0			c.G1038A												49	46	47					3																	49213207		2203	4300	6503	SO:0001819	synonymous_variant	200942	exon6			CGTGGAGGCACTG		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.1038G>A	3.37:g.49213207G>A			64	0	0		50	0.06	3	NM_173546	49	0	0		Silent	SNP	ENST00000332780.2	37	CCDS2791.1																																																																																					0.617	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345974.1		NM_173546		A	49213207	G	A	49213207	2	1	106	1	0	0	0	0	0	0	0	1	8378	991	35	3		3	KLHDC8B	3	49213207	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	705086	49213207	148809223	10	7867											
IL17RD	54756	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	57132107	57132107	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaaatggcgacgtataGggaccggcctgacttgctcc	8	9	13	11	3	0	1	0	1	0	0	1	3	1	2	3	3	2	4	3	3	3	4			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr3:57132107G>C	ENST00000296318.7	-	12	1712	c.1624C>G	c.(1624-1626)Cta>Gta	p.L542V	IL17RD_ENST00000320057.5_Missense_Mutation_p.L398V|IL17RD_ENST00000463523.1_Missense_Mutation_p.L398V|IL17RD_ENST00000427856.2_Missense_Mutation_p.L518V	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	542					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GCGACGTATAGGGACCGGCCT	0.597																																					p.L542V													.	.			0			c.C1624G												90	80	84					3																	57132107		2203	4300	6503	SO:0001583	missense	54756	exon12			CGTATAGGGACCG	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1624C>G	3.37:g.57132107G>C	ENSP00000296318:p.Leu542Val		112	0	0		171	0.09	16	NM_017563	18	0.06	1	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262867	0.80358	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.30981	1.55;1.51;1.56;1.51	5.64	5.64	0.86602	.	0.133902	0.49916	D	0.000127	T	0.55305	0.1912	L	0.59436	1.845	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.996;0.991;0.998	T	0.55328	-0.8158	10	0.87932	D	0	-26.8228	19.7154	0.96115	0.0:0.0:1.0:0.0	.	398;542;518	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	V	542;398;518;398	ENSP00000296318:L542V;ENSP00000322250:L398V;ENSP00000399209:L518V;ENSP00000417516:L398V	ENSP00000296318:L542V	L	-	1	2	IL17RD	57107147	1.000000	0.71417	0.975000	0.42487	0.940000	0.58332	6.038000	0.70964	2.664000	0.90586	0.655000	0.94253	CTA			0.597	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316680.1		NM_017563		C	57132107	G	C	57132107	3	2	106	1	0	0	0	0	1	0	0	0	7657	991	35	5	603	5	IL17RD	3	57132107	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	7918900	57132107	140890323	11	7868											
GPR160	26996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	169802035	169802035	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcattaggttcactaaatAccacatctgcctatttactc	13	13	4	11	0	2	0	1	0	1	0	3	0	2	0	2	1	4	2	2	1	7	7			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr3:169802035A>T	ENST00000355897.5	+	4	883	c.275A>T	c.(274-276)tAc>tTc	p.Y92F		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTCACTAAATACCACATCTGC	0.313																																					p.Y92F													.	.			0			c.A275T												69	72	71					3																	169802035		2201	4294	6495	SO:0001583	missense	26996	exon4			CTAAATACCACAT	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"GPCR / Class A : Orphans"	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.275A>T	3.37:g.169802035A>T	ENSP00000348161:p.Tyr92Phe		198	0	0		165	0.25	41	NM_014373	26	0.46	12	D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106316	0.56291	.	.	ENSG00000173890	ENST00000355897;ENST00000485735;ENST00000473675	T;T;T	0.18810	2.19;2.19;2.19	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.248184	0.35067	N	0.003474	T	0.43853	0.1266	M	0.63843	1.955	0.37496	D	0.91656	D	0.76494	0.999	D	0.67548	0.952	T	0.48937	-0.8990	10	0.62326	D	0.03	.	16.0902	0.81086	1.0:0.0:0.0:0.0	.	92	Q9UJ42	GP160_HUMAN	F	92	ENSP00000348161:Y92F;ENSP00000419546:Y92F;ENSP00000420751:Y92F	ENSP00000348161:Y92F	Y	+	2	0	GPR160	171284729	1.000000	0.71417	0.982000	0.44146	0.063000	0.16089	6.778000	0.75043	2.194000	0.70268	0.528000	0.53228	TAC			0.313	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352167.1		NM_014373		T	169802035	A	T	169802035	3	4	106	1	0	0	0	0	1	0	0	0	6678	391	14	5	277	5	GPR160	3	169802035	Missense_Mutation	SNP	A	TCGA-WZ-A7V5-01A-11D-A435-10	112669928	169802035	28220395	12	7869											
FNDC3B	64778	broad.mit.edu	37	chr3	172062023	172062023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaccgtgtatcgcttccGggtgagggctctgaatgatg	7	11	15	8	3	1	3	0	3	1	0	3	4	2	4	2	3	1	3	2	3	3	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr3:172062023G>T	ENST00000336824.4	+	19	2324	c.2225G>T	c.(2224-2226)cGg>cTg	p.R742L	FNDC3B_ENST00000416957.1_Missense_Mutation_p.R742L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.R742L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	742	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TATCGCTTCCGGGTGAGGGCT	0.542																																					p.R742L													.	FNDC3B	118		0			c.G2225T												139	128	132					3																	172062023		2203	4300	6503	SO:0001583	missense	64778	exon19			GCTTCCGGGTGAG	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2225G>T	3.37:g.172062023G>T	ENSP00000338523:p.Arg742Leu		111	0	0		118	0.03	3	NM_001135095	26	0	0	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405812	0.62288	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.60920	0.15;0.15;0.15	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.092869	0.64402	D	0.000001	D	0.82870	0.5131	H	0.94925	3.6	0.80722	D	1	D	0.52996	0.957	D	0.63033	0.91	D	0.86317	0.1690	10	0.66056	D	0.02	-21.2522	20.2985	0.98592	0.0:0.0:1.0:0.0	.	742	Q53EP0	FND3B_HUMAN	L	742	ENSP00000411242:R742L;ENSP00000338523:R742L;ENSP00000389094:R742L	ENSP00000338523:R742L	R	+	2	0	FNDC3B	173544717	1.000000	0.71417	0.967000	0.41034	0.083000	0.17756	7.598000	0.82745	2.793000	0.96121	0.655000	0.94253	CGG			0.542	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345618.2		NM_022763		T	172062023	G	T	172062023	3	4	106	1	0	0	0	0	1	0	0	0	5983	1116	39	1	2295	1	FNDC3B	3	172062023	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	2259988	172062023	25960407	13	7870											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	55599321	55599321	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttggtctagccagagAcatcaagaatgattctaatt	13	14	8	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	6	rs121913507		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr4:55599321A>T	ENST00000288135.5	+	17	2544	c.2447A>T	c.(2446-2448)gAc>gTc	p.D816V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816V(758)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCAGAGACATCAAGAAT	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816V			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,+1,932	KIT	1	932	770	Substitution - Missense(769)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(745)|testis(16)|ovary(5)|skin(2)|soft_tissue(1)|genital_tract(1)	c.A2447T	GRCh37	CM952169	KIT	M	rs121913507							145	146	145					4																	55599321		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	CCAGAGACATCAA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2447A>T	4.37:g.55599321A>T	ENSP00000288135:p.Asp816Val		49	0	0		66	0.09	6	NM_000222	144	0.26	37	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831107	0.91036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83591	-1.74;-1.74	5.62	5.62	0.85841	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	0.000011	D	0.85093	0.5618	N	0.21097	0.63	0.80722	A	1	D;D	0.71674	0.998;0.991	D;D	0.68943	0.961;0.933	D	0.88419	0.3027	9	0.87932	D	0	.	15.8126	0.78576	1.0:0.0:0.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	V	816;812	ENSP00000288135:D816V;ENSP00000390987:D812V	ENSP00000288135:D816V	D	+	2	0	KIT	55294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.148000	0.66965	0.477000	0.44152	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55599321	A	T	55599321	3	4	106	1	0	0	0	0	1	0	0	0	8344	275	10	5	2513	5	KIT	4	55599321	Missense_Mutation	SNP	A	TCGA-WZ-A7V5-01A-11D-A435-10		55599321	135554955	14	7871											
CAMK2D	817	broad.mit.edu;bcgsc.ca	37	chr4	114378550	114378550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acattctgccactttccatcCcggcggtgccacacacgagt	8	9	8	16	3	1	0	0	0	1	0	3	1	3	0	4	2	2	0	4	2	0	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr4:114378550C>A	ENST00000342666.5	-	17	1373	c.1374G>T	c.(1372-1374)cgG>cgT	p.R458R	CAMK2D_ENST00000296402.5_Silent_p.R458R|CAMK2D_ENST00000379773.2_Silent_p.R458R|CAMK2D_ENST00000514328.1_Silent_p.R457R|CAMK2D_ENST00000511664.1_Silent_p.R492R|CAMK2D_ENST00000505990.1_Silent_p.R492R|CAMK2D_ENST00000508738.1_Silent_p.R469R|CAMK2D_ENST00000429180.1_Silent_p.R478R|CAMK2D_ENST00000394524.3_Silent_p.R458R|CAMK2D_ENST00000515496.1_Silent_p.R469R|CAMK2D_ENST00000394522.3_Silent_p.R472R|CAMK2D_ENST00000454265.2_Silent_p.R483R|CAMK2D_ENST00000394526.2_Silent_p.R469R|CAMK2D_ENST00000418639.2_Silent_p.R472R			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	458					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|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 the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACTTTCCATCCCGGCGGTGCC	0.483																																					p.R472R													.	CAMK2D	55		0			c.G1416T												145	133	137					4																	114378550		2203	4300	6503	SO:0001819	synonymous_variant	817	exon18			TCCATCCCGGCGG	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1374G>T	4.37:g.114378550C>A			155	0.0064516129	1		135	0.07	10	NM_172114	27	0.15	4	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Silent	SNP	ENST00000342666.5	37	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302339	0.23736	.	.	ENSG00000145349	ENST00000513132	.	.	.	5.93	-0.476	0.12100	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.925	0.05781	0.4415:0.2839:0.1474:0.1273	.	.	.	.	X	162	.	.	G	-	1	0	CAMK2D	114597999	0.206000	0.23470	0.999000	0.59377	0.923000	0.55619	-0.384000	0.07389	0.086000	0.17137	-0.226000	0.12346	GGA			0.483	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256420.2				A	114378550	C	A	114378550	2	1	106	1	0	0	0	0	0	0	0	1	2603	610	22	3		3	CAMK2D	4	114378550	Silent	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	58779229	114378550	76775726	15	7872											
FAM149A	25854	mdanderson.org	37	chr4	187077206	187077206	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccggtaggaaatggcgcAaactcggacttcctcctgtt	9	9	11	12	3	0	0	0	0	0	0	3	2	2	2	3	4	2	3	3	4	3	3	rs4862653	byFrequency	TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr4:187077206A>T	ENST00000356371.5	+	7	1309	c.1309A>T	c.(1309-1311)Aaa>Taa	p.K437*	FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000502970.1_Nonsense_Mutation_p.K146*|FAM149A_ENST00000514153.1_Nonsense_Mutation_p.K146*|FAM149A_ENST00000227065.4_Nonsense_Mutation_p.K146*|FAM149A_ENST00000503432.1_Nonsense_Mutation_p.K146*|FAM149A_ENST00000389354.5_Nonsense_Mutation_p.K146*			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	437			K -> E (in dbSNP:rs4862653). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.							breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GAAATGGCGCAAACTCGGACT	0.443																																					p.K146X													.	.			0			c.A436T												117	108	111					4																	187077206		2203	4300	6503	SO:0001587	stop_gained	25854	exon7			TGGCGCAAACTCG	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1309A>T	4.37:g.187077206A>T	ENSP00000348732:p.Lys437*		96	0	0		85	0.04	3	NM_015398	4	0	0	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Nonsense_Mutation	SNP	ENST00000356371.5	37		.	.	.	.	.	.	.	.	.	.	G	38	6.678353	0.97755	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.	.	.	5.46	3.0	0.34707	.	0.286996	0.34133	N	0.004229	.	.	.	.	.	.	0.09310	P	0.999999999999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5284	9.4042	0.38451	0.8092:0.1203:0.0705:0.0	.	.	.	.	X	146;437;146;146;146;146	.	ENSP00000227065:K146X	K	+	1	0	FAM149A	187314200	0.014000	0.17966	0.000000	0.03702	0.000000	0.00434	2.572000	0.45999	0.159000	0.19401	-1.066000	0.02275	AAA			0.443	FAM149A-201	KNOWN	basic	protein_coding	protein_coding				NM_001006655		T	187077206	A	T	187077206	4	4	106	1	0	0	0	0	0	1	0	0	5465	131	5	5	450	5	FAM149A	4	187077206	Nonsense_Mutation	SNP	A	TCGA-WZ-A7V5-01A-11D-A435-10	72698656	187077206	4077070	16	7873											
DNAH5	1767	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	13839638	13839638	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgatatgcatatgacaCtgaaattcaaaaggtatatg	15	13	7	6	0	2	3	1	3	1	0	2	3	2	3	0	1	1	2	0	1	7	6			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr5:13839638C>A	ENST00000265104.4	-	35	5814		c.e35-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					GCATATGACACTGAAATTCAA	0.338									Kartagener syndrome																												.													.	DNAH5	868		0			c.5710-1G>T												63	61	62					5																	13839638		2203	4300	6503	SO:0001630	splice_region_variant	1767	exon36	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ATGACACTGAAAT	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.5710-1G>T	5.37:g.13839638C>A			110	0	0		79	0.09	7	NM_001369	0		0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353474	0.82243	.	.	ENSG00000039139	ENST00000265104	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1545	0.86787	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13892638	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.593000	0.82686	2.300000	0.77407	0.650000	0.86243	.			0.338	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207057.2		NM_001369	Intron	A	13839638	C	A	13839638	5	1	106	1	0	0	0	0	0	0	1	0	4609	579	20	3	8345	3	DNAH5	5	13839638	Splice_Site	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10		13839638	167075622	17	7874											
FGF10	2255	broad.mit.edu	37	chr5	44305289	44305289	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttacagtcattgttaaaTtctttctgcaaaggaaaaac	15	13	6	7	0	3	0	1	0	2	0	3	1	3	1	0	1	4	3	0	1	6	5	rs200817529		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr5:44305289T>C	ENST00000264664.4	-	3	549	c.435A>G	c.(433-435)gaA>gaG	p.E145E		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	145					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					CATTGTTAAATTCTTTCTGCA	0.378																																					p.E145E													FGF10,caecum,carcinoma,-2,1	FGF10	40	1	0			c.A435G												153	139	144					5																	44305289		2203	4300	6503	SO:0001819	synonymous_variant	2255	exon3			GTTAAATTCTTTC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.435A>G	5.37:g.44305289T>C			152	0	0		158	0.03	5	NM_004465	0		0	C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	ENST00000264664.4	37	CCDS3950.1																																																																																					0.378	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253845.2		NM_004465		C	44305289	T	C	44305289	2	2	106	1	0	0	0	0	0	0	0	1	5852	1490	52	4		4	FGF10	5	44305289	Silent	SNP	T	TCGA-WZ-A7V5-01A-11D-A435-10	30465651	44305289	136609971	18	7875											
PPT2	9374	broad.mit.edu	37	chr6	32122905	32122905	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagggttccgagaggctgtGgtccccatcatggcaaaggc	9	7	14	11	1	1	1	1	0	0	1	3	2	3	1	3	5	0	3	3	5	2	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr6:32122905G>T	ENST00000324816.6	+	3	850	c.282G>T	c.(280-282)gtG>gtT	p.V94V	PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2-EGFL8_ENST00000422437.1_Silent_p.V94V|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000375143.2_Silent_p.V94V|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000445576.2_Silent_p.V94V|PPT2_ENST00000395523.1_Silent_p.V94V|PPT2_ENST00000375137.2_Silent_p.V94V|PPT2_ENST00000361568.2_Silent_p.V100V|PPT2_ENST00000493548.1_3'UTR			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	94					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GAGAGGCTGTGGTCCCCATCA	0.602																																					p.V100V													.	PPT2	19		0			c.G300T												98	84	89					6																	32122905		1510	2709	4219	SO:0001819	synonymous_variant	0	exon3			GGCTGTGGTCCCC	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.282G>T	6.37:g.32122905G>T			118	0	0		127	0.03	4	NM_138717	33	0	0	A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Silent	SNP	ENST00000324816.6	37	CCDS4742.1																																																																																					0.602	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076552.4		NM_138717		T	32122905	G	T	32122905	2	4	106	1	0	0	0	0	0	0	0	1	12432	1335	47	3		3	PPT2	6	32122905	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		32122905	138992162	19	7876											
KIF6	221458	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	39513397	39513397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgatgaactttacgcatatCcgcgccaacctctaatctac	11	11	6	13	3	2	2	0	2	2	0	3	2	3	2	3	0	4	1	3	0	6	5			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr6:39513397C>T	ENST00000287152.7	-	11	1343	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	KIF6_ENST00000373215.3_Missense_Mutation_p.D417N|KIF6_ENST00000373213.4_Missense_Mutation_p.D256N|KIF6_ENST00000373216.3_Missense_Mutation_p.D417N|KIF6_ENST00000538893.1_Missense_Mutation_p.D417N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	417					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTACGCATATCCGCGCCAACC	0.363																																					p.D417N													.	.			0			c.G1249A												117	113	114					6																	39513397		2203	4300	6503	SO:0001583	missense	221458	exon11			GCATATCCGCGCC	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1249G>A	6.37:g.39513397C>T	ENSP00000287152:p.Asp417Asn		156	0	0		134	0.08	11	NM_145027	0		0	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638672	0.67130	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893	T;T;T;T;T	0.72505	-0.65;-0.63;-0.49;-0.65;-0.66	5.56	5.56	0.83823	.	.	.	.	.	T	0.75481	0.3855	L	0.55213	1.73	0.80722	D	1	D;D;D;D	0.89917	0.997;0.972;0.972;1.0	D;P;P;D	0.97110	0.955;0.868;0.868;1.0	T	0.72833	-0.4173	9	0.33141	T	0.24	.	15.0307	0.71705	0.0:1.0:0.0:0.0	.	417;417;417;417	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	N	417;417;256;417;417	ENSP00000287152:D417N;ENSP00000362312:D417N;ENSP00000362309:D256N;ENSP00000362311:D417N;ENSP00000441435:D417N	ENSP00000287152:D417N	D	-	1	0	KIF6	39621375	0.994000	0.37717	0.943000	0.38184	0.483000	0.33249	4.095000	0.57728	2.609000	0.88269	0.561000	0.74099	GAT			0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040455.2		NM_145027		T	39513397	C	T	39513397	3	4	106	1	0	0	0	0	1	0	0	0	8323	855	30	3	1247	3	KIF6	6	39513397	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	7390492	39513397	131601670	20	7877											
APOBEC2	10930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	41029397	41029397	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcattctggtgggtcgactCttcatgtgggaggagccgga	6	11	15	9	2	4	0	2	0	2	0	5	4	4	3	1	5	1	0	1	5	0	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr6:41029397C>G	ENST00000244669.2	+	2	506	c.462C>G	c.(460-462)ctC>ctG	p.L154L		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	154					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)					TGGGTCGACTCTTCATGTGGG	0.547																																					p.L154L	Ovarian(118;1320 2185 8096 29684)												.	.			0			c.C462G												86	89	88					6																	41029397		2203	4300	6503	SO:0001819	synonymous_variant	10930	exon2			TCGACTCTTCATG	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.462C>G	6.37:g.41029397C>G			196	0	0		150	0.14	21	NM_006789	0		0	B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	ENST00000244669.2	37	CCDS4848.1	.	.	.	.	.	.	.	.	.	.	C	8.298	0.819251	0.16607	.	.	ENSG00000124701	ENST00000426505	.	.	.	5.76	4.89	0.63831	.	.	.	.	.	T	0.63260	0.2496	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69643	-0.5090	5	0.87932	D	0	.	10.9547	0.47351	0.1462:0.7132:0.1406:0.0	.	.	.	.	C	119	.	ENSP00000395214:S119C	S	+	2	0	APOBEC2	41137375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.452000	0.35156	1.417000	0.47077	0.655000	0.94253	TCT			0.547	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040498.1		NM_006789		G	41029397	C	G	41029397	2	3	106	1	0	0	0	0	0	0	0	1	788	900	32	5		5	APOBEC2	6	41029397	Silent	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	1516000	41029397	130085670	21	7878											
SERINC1	57515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	122766308	122766308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccactgacttttcatctCacgagagggttcatacctaa	10	13	7	11	1	3	2	3	1	1	1	5	3	4	2	2	1	1	1	2	1	2	5			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr6:122766308C>T	ENST00000339697.4	-	10	1327	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	415					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CTTTTCATCTCACGAGAGGGT	0.428																																					p.E415K													.	.			0			c.G1243A												81	75	77					6																	122766308		2203	4300	6503	SO:0001583	missense	57515	exon10			TCATCTCACGAGA	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1243G>A	6.37:g.122766308C>T	ENSP00000342962:p.Glu415Lys		77	0	0		81	0.11	9	NM_020755	117	0.14	16	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736426	0.15574	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.12984	2.63;2.63	5.64	4.77	0.60923	.	0.458443	0.22268	N	0.062307	T	0.01765	0.0056	N	0.12182	0.205	0.31425	N	0.673889	B	0.02656	0.0	B	0.09377	0.004	T	0.43491	-0.9388	10	0.05833	T	0.94	-0.787	8.8528	0.35210	0.0:0.7623:0.0:0.2377	.	415	Q9NRX5	SERC1_HUMAN	K	415	ENSP00000342962:E415K;ENSP00000357439:E415K	ENSP00000342962:E415K	E	-	1	0	SERINC1	122808007	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	2.362000	0.44169	1.391000	0.46566	0.655000	0.94253	GAG			0.428	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042031.2		NM_020755		T	122766308	C	T	122766308	3	4	106	1	0	0	0	0	1	0	0	0	14102	835	29	3	122	3	SERINC1	6	122766308	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	81736911	122766308	48348759	22	7879											
LAMA2	3908	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	129609102	129609102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcagctgtgacagcttgtCtggctcctgtctgatatgta	6	14	12	9	0	2	2	0	2	2	0	3	2	3	2	1	2	2	5	1	2	2	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr6:129609102C>G	ENST00000421865.2	+	19	2697	c.2648C>G	c.(2647-2649)tCt>tGt	p.S883C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	883	Laminin EGF-like 8. {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)		GACAGCTTGTCTGGCTCCTGT	0.498																																					p.S883C													.	.			0			c.C2648G												279	232	248					6																	129609102		2203	4300	6503	SO:0001583	missense	3908	exon19			GCTTGTCTGGCTC	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.2648C>G	6.37:g.129609102C>G	ENSP00000400365:p.Ser883Cys		141	0	0		152	0.08	12	NM_000426	3	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830626	0.91036	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.62788	0.0	5.93	5.93	0.95920	EGF-like, laminin (3);	0.068607	0.64402	D	0.000010	T	0.79834	0.4514	M	0.83692	2.655	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.982	T	0.81200	-0.1041	10	0.87932	D	0	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	883;883	A6NF00;P24043	.;LAMA2_HUMAN	C	883	ENSP00000400365:S883C	ENSP00000346769:S883C	S	+	2	0	LAMA2	129650795	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.798000	0.96311	0.655000	0.94253	TCT			0.498	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042180.1				G	129609102	C	G	129609102	3	3	106	1	0	0	0	0	1	0	0	0	8621	913	32	5	2722	5	LAMA2	6	129609102	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	6842794	129609102	41505965	23	7880											
KIAA1244	57221	mdanderson.org	37	chr6	138655582	138655582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacatctttgaggaaaccGcccaggtcagccccccgaga	12	5	10	14	2	2	3	1	1	1	2	2	5	2	4	5	2	2	0	5	2	2	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr6:138655582G>T	ENST00000251691.4	+	33	5765	c.5599G>T	c.(5599-5601)Gcc>Tcc	p.A1867S		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)		TGAGGAAACCGCCCAGGTCAG	0.577																																					p.A1867S													.	.			0			c.G5599T												25	26	25					6																	138655582		2203	4300	6503	SO:0001583	missense	57221	exon33			GAAACCGCCCAGG	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.5599G>T	6.37:g.138655582G>T	ENSP00000251691:p.Ala1867Ser		54	0	0		46	0.07	3	NM_020340	0		0		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149337	0.78001	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.28255	1.62	5.36	5.36	0.76844	.	0.436705	0.27245	N	0.020253	T	0.35653	0.0939	L	0.40543	1.245	0.58432	D	0.999991	D	0.65815	0.995	P	0.59056	0.851	T	0.07385	-1.0775	10	0.52906	T	0.07	-21.8379	19.0985	0.93265	0.0:0.0:1.0:0.0	.	1867	Q5TH69	BIG3_HUMAN	S	1867;32	ENSP00000251691:A1867S	ENSP00000251691:A1867S	A	+	1	0	KIAA1244	138697275	1.000000	0.71417	0.736000	0.30914	0.798000	0.45092	9.212000	0.95126	2.522000	0.85027	0.411000	0.27672	GCC			0.577	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042425.4		NM_020340		T	138655582	G	T	138655582	3	4	106	1	0	0	0	0	1	0	0	0	8232	1087	38	1	5729	1	KIAA1244	6	138655582	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	9046480	138655582	32459485	24	7881											
UTRN	7402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr6	145148508	145148508	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcacactcatcagtatgtgGccagagcactatgagtgagt	12	10	10	9	0	3	3	3	2	0	1	3	3	3	3	1	1	1	2	1	1	2	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr6:145148508G>A	ENST00000367545.3	+	66	9519	c.9519G>A	c.(9517-9519)tgG>tgA	p.W3173*	UTRN_ENST00000367526.4_Nonsense_Mutation_p.W728*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3173					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)		TCAGTATGTGGCCAGAGCACT	0.453																																					p.W3173X													.	.			0			c.G9519A												180	161	167					6																	145148508		2203	4300	6503	SO:0001587	stop_gained	7402	exon66			TATGTGGCCAGAG	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.9519G>A	6.37:g.145148508G>A	ENSP00000356515:p.Trp3173*		71	0	0		70	0.13	9	NM_007124	32	0.06	2	Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	41	8.614499	0.98886	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000432686	.	.	.	5.63	5.63	0.86233	.	0.000000	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6652	0.95890	0.0:0.0:1.0:0.0	.	.	.	.	X	3173;728;132	.	ENSP00000356496:W728X	W	+	3	0	UTRN	145190201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.721000	0.61951	2.646000	0.89796	0.557000	0.71058	TGG			0.453	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042551.1				A	145148508	G	A	145148508	4	1	106	1	0	0	0	0	0	1	0	0	17127	1212	42	2	9781	2	UTRN	6	145148508	Nonsense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	6492926	145148508	25966559	25	7882											
ZNF273	10793	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr7	64389258	64389258	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccctacaaatgtgaaGaatgtggcaaagcttttaac	16	9	9	7	0	0	3	0	1	0	2	0	3	0	3	1	1	4	2	1	1	7	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr7:64389258G>T	ENST00000476120.1	+	4	1623	c.1552G>T	c.(1552-1554)Gaa>Taa	p.E518*	ZNF273_ENST00000319636.5_Nonsense_Mutation_p.E453*|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CAAATGTGAAGAATGTGGCAA	0.378																																					p.E518X	Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												.	.			0			c.G1552T												56	61	59					7																	64389258		2203	4300	6503	SO:0001587	stop_gained	10793	exon4			TGTGAAGAATGTG	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1552G>T	7.37:g.64389258G>T	ENSP00000418719:p.Glu518*		67	0	0		85	0.07	6	NM_021148	80	0.11	9	B3KQZ5|Q6P3V4	Nonsense_Mutation	SNP	ENST00000476120.1	37	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	22.8	4.332780	0.81801	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	.	.	.	1.16	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	7.3527	0.26700	0.0:0.0:1.0:0.0	.	.	.	.	X	518;453	.	ENSP00000324518:E453X	E	+	1	0	ZNF273	64026693	0.000000	0.05858	0.822000	0.32727	0.822000	0.46500	0.294000	0.19047	0.202000	0.20498	0.205000	0.17691	GAA			0.378	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313502.1				T	64389258	G	T	64389258	4	4	106	1	0	0	0	0	0	1	0	0	17831	943	33	3	1566	3	ZNF273	7	64389258	Nonsense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		64389258	94749405	26	7883											
YWHAG	7532	broad.mit.edu	37	chr7	75959211	75959211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactccaccaccgtcgcccTtttctctccggtggccactt	4	11	8	18	3	1	0	0	0	1	0	5	1	3	1	6	3	0	0	6	3	0	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr7:75959211T>C	ENST00000307630.3	-	2	649	c.427A>G	c.(427-429)Agg>Ggg	p.R143G		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	143					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						ACCGTCGCCCTTTTCTCTCCG	0.577																																					p.R143G													.	YWHAG	24		0			c.A427G												140	141	141					7																	75959211		2203	4300	6503	SO:0001583	missense	7532	exon2			TCGCCCTTTTCTC	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.427A>G	7.37:g.75959211T>C	ENSP00000306330:p.Arg143Gly		136	0	0		179	0.03	5	NM_012479	621	0	0	O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Missense_Mutation	SNP	ENST00000307630.3	37	CCDS5584.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238434	0.58886	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	T	0.48522	0.81	5.55	-3.65	0.04502	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	H	0.95712	3.71	0.80722	D	1	P	0.46277	0.875	B	0.38264	0.269	T	0.77913	-0.2410	10	0.87932	D	0	-24.4553	19.0428	0.93008	0.0:0.0:0.7121:0.2879	.	143	P61981	1433G_HUMAN	G	143;121;103	ENSP00000306330:R143G	ENSP00000306330:R143G	R	-	1	2	YWHAG	75797147	0.542000	0.26426	0.109000	0.21407	0.971000	0.66376	-0.288000	0.08377	-0.759000	0.04684	-0.340000	0.08031	AGG			0.577	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253002.1		NM_012479		C	75959211	T	C	75959211	3	2	106	1	0	0	0	0	1	0	0	0	17527	1608	56	4	320	4	YWHAG	7	75959211	Missense_Mutation	SNP	T	TCGA-WZ-A7V5-01A-11D-A435-10	11569953	75959211	83179452	27	7884											
TTC26	79989	broad.mit.edu	37	chr7	138874119	138874119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcacaggtaacacccaaGtagaatacatgatccggatc	16	6	9	10	1	0	2	0	1	0	1	2	4	1	3	2	2	3	3	2	2	6	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr7:138874119G>T	ENST00000464848.1	+	18	1686	c.1606G>T	c.(1606-1608)Gta>Tta	p.V536L	TTC26_ENST00000495038.1_Missense_Mutation_p.V405L|TTC26_ENST00000478836.2_Missense_Mutation_p.V429L|TTC26_ENST00000343187.4_Missense_Mutation_p.V505L|TTC26_ENST00000430935.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	536					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TAACACCCAAGTAGAATACAT	0.413																																					p.V536L													.	TTC26	50		0			c.G1606T												154	152	153					7																	138874119		2203	4300	6503	SO:0001583	missense	79989	exon18			ACCCAAGTAGAAT	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1606G>T	7.37:g.138874119G>T	ENSP00000419279:p.Val536Leu		414	0.0024154589	1		522	0.02	9	NM_024926	18	0	0	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203240	0.79127	.	.	ENSG00000105948	ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T	0.50277	0.75;0.78;0.8;0.79	5.43	5.43	0.79202	.	0.060928	0.64402	D	0.000004	T	0.59595	0.2205	M	0.87900	2.915	0.80722	D	1	P;P;P	0.44260	0.83;0.663;0.533	B;B;B	0.42422	0.387;0.269;0.138	T	0.68104	-0.5497	10	0.52906	T	0.07	.	18.0152	0.89238	0.0:0.0:1.0:0.0	.	405;505;536	B7Z2T3;F8W724;A0AVF1	.;.;TTC26_HUMAN	L	405;429;536;505	ENSP00000418788:V405L;ENSP00000419178:V429L;ENSP00000419279:V536L;ENSP00000339135:V505L	ENSP00000339135:V505L	V	+	1	0	TTC26	138524659	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.524000	0.98036	2.527000	0.85204	0.563000	0.77884	GTA			0.413	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348919.2		NM_024926		T	138874119	G	T	138874119	3	4	106	1	0	0	0	0	1	0	0	0	16718	1029	36	3	1676	3	TTC26	7	138874119	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	62914908	138874119	20264544	28	7885											
EZH2	2146	broad.mit.edu	37	chr7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatggaaagatgctaacccTttttcagctgtatctttctg	10	15	8	8	0	3	1	1	0	2	1	3	3	3	2	1	1	3	3	1	1	4	5			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr7:148512600T>C	ENST00000460911.1	-	13	1617	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	EZH2_ENST00000483967.1_Missense_Mutation_p.K501R|EZH2_ENST00000320356.2_Missense_Mutation_p.K515R|EZH2_ENST00000476773.1_Missense_Mutation_p.K501R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000478654.1_Missense_Mutation_p.K501R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	510	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL																																p.K515R				Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	EZH2	823		0			c.A1544G												150	144	146					7																	148512600		2203	4300	6503	SO:0001583	missense	0	exon13			TAACCCTTTTTCA		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1529A>G	7.37:g.148512600T>C	ENSP00000419711:p.Lys510Arg		211	0	0		286	0.01	4	NM_004456	79	0	0	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	t	27.5	4.839567	0.91117	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94687	-3.44;-3.49;-3.49;-3.48;-3.44;-3.44;-3.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	L	0.60455	1.87	0.80722	D	1	P;P;D;P;D	0.76494	0.635;0.799;0.992;0.635;0.999	B;P;P;B;D	0.80764	0.347;0.465;0.765;0.347;0.994	D	0.95704	0.8752	10	0.38643	T	0.18	.	15.542	0.76057	0.0:0.0:0.0:1.0	.	501;501;510;471;515	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	R	501;515;510;471;501;501;501	ENSP00000417062:K501R;ENSP00000320147:K515R;ENSP00000419711:K510R;ENSP00000223193:K471R;ENSP00000443219:K501R;ENSP00000419050:K501R;ENSP00000419856:K501R	ENSP00000320147:K515R	K	-	2	0	EZH2	148143533	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.351000	0.79395	2.064000	0.61679	0.533000	0.62120	AAG			0.368	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000352744.1		NM_004456		C	148512600	T	C	148512600	3	2	106	1	0	0	0	0	1	0	0	0	5341	1609	56	4	743	4	EZH2	7	148512600	Missense_Mutation	SNP	T	TCGA-WZ-A7V5-01A-11D-A435-10	9638481	148512600	10626063	29	7886											
KRBA1	84626	broad.mit.edu	37	chr7	149430561	149430561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgaatcggctggggAggcgcccccaaggccctggg	6	4	17	14	2	0	1	0	1	0	0	1	2	0	2	4	7	0	1	4	7	2	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr7:149430561A>G	ENST00000485033.2	+	15	2335	c.2335A>G	c.(2335-2337)Agg>Ggg	p.R779G	KRBA1_ENST00000255992.10_Missense_Mutation_p.R839G|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.R779G			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	840	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCGGCTGGGGAGGCGCCCCCA	0.682																																					.													.	KRBA1	68		0			.												6	8	7					7																	149430561		1959	4113	6072	SO:0001583	missense	84626	.			CTGGGGAGGCGCC	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2335A>G	7.37:g.149430561A>G	ENSP00000420112:p.Arg779Gly		47	0.085106383	4		54	0.17	9	.	17	0.06	1	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37		.	.	.	.	.	.	.	.	.	.	A	12.36	1.914005	0.33815	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.43688	0.96;0.94;0.94	5.13	1.68	0.24146	.	0.152767	0.30901	N	0.008643	T	0.57755	0.2075	.	.	.	0.09310	N	0.999999	D;D	0.63046	0.992;0.992	P;P	0.62740	0.906;0.906	T	0.54417	-0.8297	9	0.59425	D	0.04	-19.7927	12.4425	0.55634	0.2897:0.7103:0.0:0.0	.	779;840	E7ENE9;A5PL33	.;KRBA1_HUMAN	G	839;779;779	ENSP00000255992:R839G;ENSP00000317165:R779G;ENSP00000420112:R779G	ENSP00000255992:R839G	R	+	1	2	KRBA1	149061494	0.993000	0.37304	0.106000	0.21319	0.300000	0.27592	0.270000	0.18607	-0.010000	0.14271	0.383000	0.25322	AGG			0.682	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000349841.3		NM_032534		G	149430561	A	G	149430561	3	3	106	1	0	0	0	0	1	0	0	0	8454	295	11	4	2579	4	KRBA1	7	149430561	Missense_Mutation	SNP	A	TCGA-WZ-A7V5-01A-11D-A435-10	917961	149430561	9708102	30	7887											
MFHAS1	9258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	8750110	8750110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgagcgagagcgcccagCtgggcgggcagggcgggcag	7	2	22	10	4	0	2	0	1	0	1	0	3	0	2	1	5	3	3	1	5	0	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr8:8750110C>G	ENST00000276282.6	-	1	1045	c.459G>C	c.(457-459)caG>caC	p.Q153H		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	153										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GAGCGCCCAGCTGGGCGGGCA	0.692																																					p.Q153H	Melanoma(103;1201 2045 17515 28966)												.	.			0			c.G459C												15	22	20					8																	8750110		2193	4296	6489	SO:0001583	missense	9258	exon1			GCCCAGCTGGGCG	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.459G>C	8.37:g.8750110C>G	ENSP00000276282:p.Gln153His		51	0	0		53	0.17	9	NM_004225	10	0.3	3	Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410637	0.25465	.	.	ENSG00000147324	ENST00000276282	T	0.32023	1.47	5.29	4.4	0.53042	.	0.086182	0.48767	D	0.000165	T	0.25158	0.0611	L	0.29908	0.895	0.54753	D	0.999982	P	0.37864	0.61	B	0.38106	0.265	T	0.02942	-1.1091	10	0.40728	T	0.16	.	13.9164	0.63899	0.0:0.7095:0.2904:0.0	.	153	Q9Y4C4	MFHA1_HUMAN	H	153	ENSP00000276282:Q153H	ENSP00000276282:Q153H	Q	-	3	2	MFHAS1	8787520	1.000000	0.71417	0.994000	0.49952	0.695000	0.40330	2.513000	0.45494	1.190000	0.43042	0.563000	0.77884	CAG			0.692	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374724.2		NM_004225		G	8750110	C	G	8750110	3	3	106	1	0	0	0	0	1	0	0	0	9537	796	28	5	2711	5	MFHAS1	8	8750110	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10		8750110	137613912	31	7888											
MTMR7	9108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	17163456	17163456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttgggtcaccatctaGattgccatatctataaaaca	12	15	5	9	0	4	1	1	0	3	1	4	1	4	1	2	1	2	0	2	1	5	8			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr8:17163456G>C	ENST00000180173.5	-	11	1196	c.1162C>G	c.(1162-1164)Cta>Gta	p.L388V	MTMR7_ENST00000398099.3_De_novo_Start_OutOfFrame|MTMR7_ENST00000521857.1_Missense_Mutation_p.L388V	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	388	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCACCATCTAGATTGCCATAT	0.348																																					p.L388V													.	.			0			c.C1162G												74	74	74					8																	17163456		2203	4300	6503	SO:0001583	missense	9108	exon11			CATCTAGATTGCC	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1162C>G	8.37:g.17163456G>C	ENSP00000180173:p.Leu388Val		62	0	0		88	0.23	20	NM_004686	9	0.44	4	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265174	0.40095	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.90732	-2.72;-2.72	4.87	0.814	0.18756	Myotubularin phosphatase domain (1);	0.073513	0.56097	D	0.000036	D	0.91556	0.7333	M	0.72353	2.195	0.80722	D	1	D;B	0.76494	0.999;0.323	D;B	0.81914	0.995;0.092	D	0.86602	0.1867	10	0.13853	T	0.58	.	4.109	0.10050	0.5182:0.0:0.3141:0.1677	.	388;388	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	V	388	ENSP00000180173:L388V;ENSP00000429733:L388V	ENSP00000180173:L388V	L	-	1	2	MTMR7	17207827	0.999000	0.42202	0.996000	0.52242	0.990000	0.78478	1.152000	0.31663	0.029000	0.15352	0.563000	0.77884	CTA			0.348	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375311.1		NM_004686		C	17163456	G	C	17163456	3	2	106	1	0	0	0	0	1	0	0	0	9964	933	33	5	836	5	MTMR7	8	17163456	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	8413346	17163456	129200566	32	7889											
DUSP4	1846	mdanderson.org	37	chr8	29194794	29194794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagatgatgctgcggcgctGcttaacgaactcgaaggcct	9	8	13	11	5	0	2	0	1	0	1	1	5	0	2	1	2	5	3	1	2	3	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr8:29194794G>T	ENST00000240100.2	-	4	1323	c.934C>A	c.(934-936)Cag>Aag	p.Q312K	DUSP4_ENST00000240101.2_Missense_Mutation_p.Q221K	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	312	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|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)|protein dephosphorylation (GO:0006470)|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)	nucleoplasm (GO:0005654)|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)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CTGCGGCGCTGCTTAACGAAC	0.632																																					p.Q312K													.	.			0			c.C934A												73	60	64					8																	29194794		2203	4300	6503	SO:0001583	missense	1846	exon4			GGCGCTGCTTAAC	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.934C>A	8.37:g.29194794G>T	ENSP00000240100:p.Gln312Lys		25	0	0		33	0.09	3	NM_001394	9	0	0	B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081898	0.76528	.	.	ENSG00000120875	ENST00000240100;ENST00000240101	D;D	0.85411	-1.98;-1.98	4.67	4.67	0.58626	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.053896	0.85682	D	0.000000	T	0.79551	0.4465	N	0.21142	0.635	0.80722	D	1	P;B	0.42827	0.791;0.364	B;B	0.43052	0.406;0.132	T	0.82257	-0.0547	10	0.54805	T	0.06	.	15.8673	0.79074	0.0:0.0:1.0:0.0	.	312;221	Q13115;G5E930	DUS4_HUMAN;.	K	312;221	ENSP00000240100:Q312K;ENSP00000240101:Q221K	ENSP00000240100:Q312K	Q	-	1	0	DUSP4	29250713	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.703000	0.98714	2.514000	0.84764	0.462000	0.41574	CAG			0.632	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257249.1		NM_001394		T	29194794	G	T	29194794	3	4	106	1	0	0	0	0	1	0	0	0	4832	1328	46	2	254	2	DUSP4	8	29194794	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	12031338	29194794	117169228	33	7890											
MAFA	389692	broad.mit.edu	37	chr8	144512336	144512338	+	In_Frame_Del	DEL	CGC	CGC	-																															cgagccgccgccgccccccgCgccgccgccgccgccggtgc																										TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	CGC	CGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr8:144512336_144512338delCGC	ENST00000333480.2	-	1	238_240	c.239_241delGCG	c.(238-243)ggcgcg>gcg	p.G80del	MAFA_ENST00000528185.1_5'Flank	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	80	Poly-Gly.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			ccgccccccgcgccgccgccgcc	0.837										HNSCC(29;0.082)																											p.80_81del													.	MAFA	9		0			c.239_241del																																									SO:0001651	inframe_deletion	389692	exon1			CCCCCGCGCCGCC	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.239_241delGCG	8.37:g.144512345_144512347delCGC	ENSP00000328364:p.Gly80del		4	0	0		6	0.33	2	NM_201589	0		0		In_Frame_Del	DEL	ENST00000333480.2	37	CCDS34955.1																																																																																					0.837	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381511.2		NM_201589		-	144512338	CGC	-	144512336	7	5	106	1	0	1	0	1	0	0	0	0	9173	768	27	0	824	0	MAFA	8	144512336	In_Frame_Del	DEL	CGC	TCGA-WZ-A7V5-01A-11D-A435-10	115317542	144512336	1851686	34	7891											
TIGD5	84948	bcgsc.ca	37	chr8	144681321	144681321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggcacatatccccgcaccGctggagcagggcgtggtggc	6	5	16	14	4	0	0	0	0	0	0	1	1	1	1	3	5	1	4	3	5	1	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr8:144681321G>A	ENST00000504548.2	+	1	1248	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|TIGD5_ENST00000321385.3_Silent_p.P367P|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	416	DDE 2.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)			TCCCCGCACCGCTGGAGCAGG	0.687																																					p.P416P													.	TIGD5	22		0			c.G1248A												14	15	14					8																	144681321		2182	4288	6470	SO:0001819	synonymous_variant	84948	exon1			CGCACCGCTGGAG	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1248G>A	8.37:g.144681321G>A			45	0	0		45	0.09	4	NM_032862	25	0	0	E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Silent	SNP	ENST00000504548.2	37	CCDS6406.2																																																																																					0.687	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368269.1		NM_032862		A	144681321	G	A	144681321	2	1	106	1	0	0	0	0	0	0	0	1	15922	1074	38	1		1	TIGD5	8	144681321	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	168985	144681321	1682701	35	7892											
EPPK1	83481	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr8	144940450	144940450	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgatgaggtccttctgcatGgcctggaagagggagatctg	9	9	15	8	1	2	3	0	1	2	2	3	6	3	4	2	4	1	1	2	4	1	1	rs56258403		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr8:144940450G>C	ENST00000525985.1	-	2	7043	c.6972C>G	c.(6970-6972)gcC>gcG	p.A2324A				P58107	EPIPL_HUMAN	epiplakin 1	2324						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)			CCTTCTGCATGGCCTGGAAGA	0.697																																					p.A2324A													.	.			0			c.C6972G												198	193	195					8																	144940450		2181	4258	6439	SO:0001819	synonymous_variant	83481	exon1			CTGCATGGCCTGG	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.6972C>G	8.37:g.144940450G>C			121	0	0		167	0.06	10	NM_031308	43	0.07	3	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																						0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382675.1		NM_031308		C	144940450	G	C	144940450	2	2	106	1	0	0	0	0	0	0	0	1	5197	1335	47	5		5	EPPK1	8	144940450	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	259129	144940450	1423572	36	7893											
FREM1	158326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	14819320	14819320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccacccttccgtgcagagGcaattcccgcagggagaggt	8	7	12	14	2	0	2	0	0	0	2	3	3	3	2	4	3	1	3	4	3	1	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr9:14819320G>A	ENST00000380880.3	-	14	3241	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S	FREM1_ENST00000422223.2_Missense_Mutation_p.P820S|FREM1_ENST00000380881.4_Missense_Mutation_p.P821S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	820					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)		CCGTGCAGAGGCAATTCCCGC	0.463																																					p.P820S													.	.			0			c.C2458T												111	107	108					9																	14819320		1933	4136	6069	SO:0001583	missense	158326	exon15			GCAGAGGCAATTC	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.2458C>T	9.37:g.14819320G>A	ENSP00000370262:p.Pro820Ser		76	0	0		85	0.09	8	NM_144966	0		0	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203780	0.58234	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.38887	1.11;1.11;1.11	5.86	5.86	0.93980	.	0.092677	0.85682	D	0.000000	T	0.71626	0.3362	M	0.91818	3.245	0.80722	D	1	D	0.64830	0.994	P	0.61328	0.887	T	0.77368	-0.2614	10	0.72032	D	0.01	-7.7754	20.1931	0.98233	0.0:0.0:1.0:0.0	.	820	Q5H8C1	FREM1_HUMAN	S	821;820;820	ENSP00000370263:P821S;ENSP00000412940:P820S;ENSP00000370262:P820S	ENSP00000370257:P823S	P	-	1	0	FREM1	14809320	1.000000	0.71417	0.119000	0.21687	0.012000	0.07955	8.558000	0.90704	2.771000	0.95319	0.563000	0.77884	CCT			0.463	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339474.2		NM_144966		A	14819320	G	A	14819320	3	1	106	1	0	0	0	0	1	0	0	0	6057	1203	42	2	4227	2	FREM1	9	14819320	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		14819320	126394111	37	7894											
HAUS6	54801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr9	19070216	19070216	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaaatcaaatttgttttaCctgttggctagatcatgtag	13	15	8	5	0	2	2	2	0	0	2	2	2	2	2	1	1	1	4	1	1	6	6			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr9:19070216C>A	ENST00000380502.3	-	12	1844		c.e12+1		HAUS6_ENST00000380496.1_Splice_Site	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						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						ATTTGTTTTACCTGTTGGCTA	0.348																																					.													.	.			0			c.1376+1G>T												74	68	70					9																	19070216		2203	4300	6503	SO:0001630	splice_region_variant	54801	exon13			GTTTTACCTGTTG	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.1376+1G>T	9.37:g.19070216C>A			226	0	0		251	0.19	47	NM_017645	0		0	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Splice_Site	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682768	0.68157	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1399	0.81515	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HAUS6	19060216	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.527000	0.53517	2.880000	0.98712	0.650000	0.86243	.			0.348	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051825.1		NM_017645	Intron	A	19070216	C	A	19070216	5	1	106	1	0	0	0	0	0	0	1	0	6985	521	18	3	1514	3	HAUS6	9	19070216	Splice_Site	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	4250896	19070216	122143215	38	7895											
CNTFR	1271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr9	34552324	34552324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggtggtgctggtcgtgGtctctggggaacatggggga	5	10	20	6	1	1	0	0	0	1	0	3	2	1	2	0	8	3	2	0	8	1	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr9:34552324G>A	ENST00000378980.3	-	9	1246	c.953C>T	c.(952-954)aCc>aTc	p.T318I	CNTFR_ENST00000351266.4_Missense_Mutation_p.T318I	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	318					brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCTGGTCGTGGTCTCTGGGGA	0.637																																					p.T318I													.	.			0			c.C953T												25	34	31					9																	34552324		2114	4147	6261	SO:0001583	missense	1271	exon9			GTCGTGGTCTCTG	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.953C>T	9.37:g.34552324G>A	ENSP00000368265:p.Thr318Ile		13	0	0		10	0.5	5	NM_147164	5	0.4	2	Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689826	0.68271	.	.	ENSG00000122756	ENST00000378980;ENST00000351266	T;T	0.53640	0.61;0.61	4.55	4.55	0.56014	.	1.379500	0.04930	N	0.456725	T	0.65354	0.2683	L	0.53249	1.67	0.32991	D	0.524906	D	0.58970	0.984	P	0.59595	0.86	T	0.58912	-0.7552	9	0.62326	D	0.03	.	14.7832	0.69781	0.0:0.0:1.0:0.0	.	318	P26992	CNTFR_HUMAN	I	318	ENSP00000368265:T318I;ENSP00000242338:T318I	ENSP00000242338:T318I	T	-	2	0	CNTFR	34542324	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.234000	0.58658	2.078000	0.62432	0.455000	0.32223	ACC			0.637	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052176.1				A	34552324	G	A	34552324	3	1	106	1	0	0	0	0	1	0	0	0	3640	1261	44	3	173	3	CNTFR	9	34552324	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	15482108	34552324	106661107	39	7896											
TMEM38B	55151	hgsc.bcm.edu	37	chr9	108510399	108510399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagttatcttcacattccaGcacacccagcatctggcaat	11	11	5	14	0	4	0	2	0	2	0	5	0	5	0	2	1	2	4	2	1	2	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr9:108510399G>T	ENST00000374692.3	+	5	705	c.588G>T	c.(586-588)caG>caT	p.Q196H	TMEM38B_ENST00000374688.1_Missense_Mutation_p.Q142H	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	196						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						TCACATTCCAGCACACCCAGC	0.358																																					p.Q196H													.	.			0			c.G588T												99	90	93					9																	108510399		2203	4300	6503	SO:0001583	missense	55151	exon5			ATTCCAGCACACC	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.588G>T	9.37:g.108510399G>T	ENSP00000363824:p.Gln196His		80	0	0		100	0.04	4	NM_018112	95	0	0	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	CCDS6768.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.72|17.72|17.72	3.459379|3.459379|3.459379	0.63401|0.63401|0.63401	.|.|.	.|.|.	ENSG00000095209|ENSG00000095209|ENSG00000095209	ENST00000451560|ENST00000374692;ENST00000374688|ENST00000435034	.|T;T|.	.|0.50548|.	.|0.74;0.74|.	5.57|5.57|5.57	4.45|4.45|4.45	0.53987|0.53987|0.53987	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.60314|0.60314|0.60314	0.2259|0.2259|0.2259	M|M|M	0.62266|0.62266|0.62266	1.93|1.93|1.93	0.47621|0.47621|0.47621	D|D|D	0.999474|0.999474|0.999474	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.91635|.	.|0.999|.	T|T|T	0.59144|0.59144|0.59144	-0.7509|-0.7509|-0.7509	5|10|5	.|0.52906|.	.|T|.	.|0.07|.	-12.0868|-12.0868|-12.0868	5.8675|5.8675|5.8675	0.18783|0.18783|0.18783	0.2233:0.0:0.7767:0.0|0.2233:0.0:0.7767:0.0|0.2233:0.0:0.7767:0.0	.|.|.	.|196|.	.|Q9NVV0|.	.|TM38B_HUMAN|.	S|H|I	57|196;142|133	.|ENSP00000363824:Q196H;ENSP00000363820:Q142H|.	.|ENSP00000363820:Q142H|.	A|Q|S	+|+|+	1|3|2	0|2|0	TMEM38B|TMEM38B|TMEM38B	107550220|107550220|107550220	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.829000|0.829000|0.829000	0.46940|0.46940|0.46940	1.500000|1.500000|1.500000	0.35682|0.35682|0.35682	2.767000|2.767000|2.767000	0.95098|0.95098|0.95098	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCA|CAG|AGC			0.358	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053517.1		NM_018112		T	108510399	G	T	108510399	3	4	106	1	0	0	0	0	1	0	0	0	16183	962	34	2	606	2	TMEM38B	9	108510399	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	73958075	108510399	32703032	40	7897											
GTPBP4	23560	broad.mit.edu	37	chr10	1058562	1058562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattctggagtccaaagaaaAgaatacacagggacccagga	18	5	10	8	0	1	2	0	0	1	2	2	5	2	5	2	3	1	0	2	3	6	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr10:1058562A>G	ENST00000360803.4	+	14	1584	c.1502A>G	c.(1501-1503)aAg>aGg	p.K501R	GTPBP4_ENST00000545048.1_Missense_Mutation_p.K454R|GTPBP4_ENST00000538293.1_Missense_Mutation_p.K385R	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	501					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)		TCCAAAGAAAAGAATACACAG	0.428																																					p.K501R													.	GTPBP4	57		0			c.A1502G												60	66	64					10																	1058562		2203	4299	6502	SO:0001583	missense	23560	exon14			AAGAAAAGAATAC	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.1502A>G	10.37:g.1058562A>G	ENSP00000354040:p.Lys501Arg		199	0	0		192	0.02	4	NM_012341	166	0	0	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323743	0.41096	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.33654	1.41;1.4;1.42	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.31578	0.945	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.05419	-1.0886	10	0.22109	T	0.4	-26.6383	15.4287	0.75075	1.0:0.0:0.0:0.0	.	501	Q9BZE4	NOG1_HUMAN	R	501;385;454	ENSP00000354040:K501R;ENSP00000444277:K385R;ENSP00000445473:K454R	ENSP00000354040:K501R	K	+	2	0	GTPBP4	1048562	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	8.677000	0.91203	2.120000	0.65058	0.459000	0.35465	AAG			0.428	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046412.1		NM_012341		G	1058562	A	G	1058562	3	3	106	1	0	0	0	0	1	0	0	0	6897	72	3	4	1556	4	GTPBP4	10	1058562	Missense_Mutation	SNP	A	TCGA-WZ-A7V5-01A-11D-A435-10		1058562	134476185	41	7898											
ANKRD30A	91074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	37508722	37508722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttcttgagaggaaaaTgcaacatcatctcctaaaag	15	12	6	8	0	4	1	2	1	2	1	5	3	4	2	1	1	2	1	1	1	5	4			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr10:37508722T>C	ENST00000602533.1	+	34	4013	c.3914T>C	c.(3913-3915)aTg>aCg	p.M1305T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M1305T|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.M1424T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1361					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						GAGAGGAAAATGCAACATCAT	0.294																																					p.M1305T													.	.			0			c.T3914C												32	31	31					10																	37508722		1828	4076	5904	SO:0001583	missense	91074	exon34			GGAAAATGCAACA	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.3914T>C	10.37:g.37508722T>C	ENSP00000473551:p.Met1305Thr		90	0	0		74	0.19	14	NM_052997	0		0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	t	0.010	-1.751919	0.00663	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.12984	2.63;2.63	2.95	-3.19	0.05171	.	.	.	.	.	T	0.09024	0.0223	L	0.43152	1.355	0.09310	N	1	B	0.26708	0.157	B	0.22152	0.038	T	0.33599	-0.9862	9	0.37606	T	0.19	.	3.1212	0.06392	0.4187:0.0:0.373:0.2083	.	1361	Q9BXX3	AN30A_HUMAN	T	1305;1424	ENSP00000354432:M1305T;ENSP00000363792:M1424T	ENSP00000354432:M1305T	M	+	2	0	ANKRD30A	37548728	0.985000	0.35326	0.001000	0.08648	0.000000	0.00434	1.611000	0.36879	-0.547000	0.06207	-2.309000	0.00256	ATG			0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000047588.2		NM_052997		C	37508722	T	C	37508722	3	2	106	1	0	0	0	0	1	0	0	0	658	1464	51	4	4048	4	ANKRD30A	10	37508722	Missense_Mutation	SNP	T	TCGA-WZ-A7V5-01A-11D-A435-10	36450160	37508722	98026025	42	7899											
LRDD	55367	mdanderson.org	37	chr11	802057	802057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggcagcgccgggcctGcggtggggtgaagagcagcc	6	5	18	12	4	1	2	1	1	0	1	1	2	1	2	3	5	4	2	3	5	1	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr11:802057G>T	ENST00000347755.5	-	7	1351	c.1210C>A	c.(1210-1212)Cag>Aag	p.Q404K	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Missense_Mutation_p.Q404K	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					CGCCGGGCCTGCGGTGGGGTG	0.672																																					p.Q404K													.	.			0			c.C1210A												17	16	16					11																	802057		2180	4269	6449	SO:0001583	missense	55367	exon7			GGGCCTGCGGTGG																												ENST00000347755.5:c.1210C>A	11.37:g.802057G>T	ENSP00000337797:p.Gln404Lys		67	0	0		40	0.08	3	NM_145887	37	0	0		Missense_Mutation	SNP	ENST00000347755.5	37	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	7.111	0.576038	0.13623	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.40756	1.02;1.02	4.25	1.08	0.20341	ZU5 (2);	0.387617	0.18115	N	0.151250	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B;B;B	0.17852	0.024;0.015;0.015	B;B;B	0.15484	0.013;0.005;0.006	T	0.27468	-1.0073	10	0.02654	T	1	.	2.9745	0.05933	0.0922:0.1456:0.4337:0.3284	.	404;258;404	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	K	404	ENSP00000416801:Q404K;ENSP00000337797:Q404K	ENSP00000337797:Q404K	Q	-	1	0	PIDD	792057	0.046000	0.20272	0.067000	0.19924	0.158000	0.22134	1.176000	0.31957	0.043000	0.15746	0.491000	0.48974	CAG			0.672	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257103.1				T	802057	G	T	802057	3	4	106	1	0	0	0	0	1	0	0	0	8952	1328	46	2	1562	2	LRDD	11	802057	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		802057	134204459	43	7900											
TRIM3	10612	mdanderson.org	37	chr11	6478097	6478097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attctcatgtggccgctccgGgaaggcctgtgccgccaatg	6	9	13	13	3	1	0	1	0	1	0	3	1	2	1	5	3	1	1	5	3	2	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr11:6478097G>T	ENST00000525074.1	-	6	1253	c.859C>A	c.(859-861)Ccg>Acg	p.P287T	TRIM3_ENST00000359518.3_Missense_Mutation_p.P287T|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000345851.3_Missense_Mutation_p.P287T|TRIM3_ENST00000536344.1_Missense_Mutation_p.P168T|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	287					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCGCTCCGGGAAGGCCTGT	0.662																																					p.P287T	Melanoma(6;5 510 1540 25169 29084)												.	.			0			c.C859A												54	50	52					11																	6478097		2197	4287	6484	SO:0001583	missense	10612	exon7			GCTCCGGGAAGGC	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.859C>A	11.37:g.6478097G>T	ENSP00000433102:p.Pro287Thr		53	0	0		38	0.08	3	NM_006458	19	0	0	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532530	0.45073	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000359518;ENST00000536344	T;T;T;D	0.83673	-0.6;-0.6;-0.6;-1.75	5.27	5.27	0.74061	.	0.049292	0.85682	D	0.000000	D	0.87763	0.6259	M	0.70275	2.135	0.58432	D	0.99999	P;D;B	0.56035	0.602;0.974;0.235	B;P;B	0.57911	0.343;0.829;0.08	D	0.84491	0.0611	10	0.12430	T	0.62	-18.9291	17.4649	0.87629	0.0:0.0:1.0:0.0	.	168;168;287	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	T	287;287;287;287;276;287;168	ENSP00000433102:P287T;ENSP00000340797:P287T;ENSP00000352508:P287T;ENSP00000445460:P168T	ENSP00000337094:P276T	P	-	1	0	TRIM3	6434673	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	7.539000	0.82063	2.472000	0.83506	0.563000	0.77884	CCG			0.662	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384224.2		NM_006458		T	6478097	G	T	6478097	3	4	106	1	0	0	0	0	1	0	0	0	16528	1232	43	3	1403	3	TRIM3	11	6478097	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	5676040	6478097	128528419	44	7901											
SLC5A12	159963	mdanderson.org	37	chr11	26718754	26718754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaaaaagtcctggcaGtcctggcattgtggcaaata	13	8	10	10	0	0	0	0	0	0	0	2	0	2	0	3	3	1	3	3	3	4	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr11:26718754G>T	ENST00000396005.3	-	8	1306	c.997C>A	c.(997-999)Ctg>Atg	p.L333M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L333M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	333					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGTCCTGGCAGTCCTGGCATT	0.393																																					p.L333M													.	.			0			c.C997A												157	147	150					11																	26718754		2203	4299	6502	SO:0001583	missense	159963	exon8			CTGGCAGTCCTGG	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.997C>A	11.37:g.26718754G>T	ENSP00000379326:p.Leu333Met		61	0	0		53	0.06	3	NM_178498	0		0	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867032	0.32977	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.90676	-2.71;-2.71;-2.71	5.97	2.01	0.26516	.	0.154363	0.43260	D	0.000592	D	0.89015	0.6595	L	0.39898	1.24	0.42933	D	0.994329	B;P	0.44429	0.322;0.835	B;P	0.53518	0.23;0.728	D	0.84507	0.0620	10	0.40728	T	0.16	.	7.6439	0.28309	0.1907:0.2315:0.5778:0.0	.	333;333	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	M	333;333;145	ENSP00000379326:L333M;ENSP00000280467:L333M;ENSP00000435053:L145M	ENSP00000280467:L333M	L	-	1	2	SLC5A12	26675330	0.980000	0.34600	0.806000	0.32338	0.932000	0.56968	1.569000	0.36428	0.124000	0.18369	-0.781000	0.03364	CTG			0.393	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319681.1		NM_178498		T	26718754	G	T	26718754	3	4	106	1	0	0	0	0	1	0	0	0	14687	1020	36	3	891	3	SLC5A12	11	26718754	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	20240657	26718754	108287762	45	7902											
DSCAML1	57453	mdanderson.org	37	chr11	117351904	117351904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccttgcacagtgagttGgatcaagccccggtcctccc	7	9	11	14	1	1	1	1	1	0	0	3	2	3	2	5	3	3	3	5	3	2	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr11:117351904G>T	ENST00000321322.6	-	13	2822	c.2821C>A	c.(2821-2823)Caa>Aaa	p.Q941K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.Q671K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	881	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ACAGTGAGTTGGATCAAGCCC	0.637																																					p.Q941K													.	.			0			c.C2821A												103	90	94					11																	117351904		2201	4296	6497	SO:0001583	missense	57453	exon13			TGAGTTGGATCAA		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.2821C>A	11.37:g.117351904G>T	ENSP00000315465:p.Gln941Lys		137	0	0		115	0.04	5	NM_020693	0		0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395305	0.62066	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.65916	-0.18;-0.18	4.52	4.52	0.55395	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70116	0.3187	L	0.56396	1.775	0.80722	D	1	P	0.49862	0.929	P	0.53760	0.734	T	0.73560	-0.3944	9	0.56958	D	0.05	.	16.2307	0.82341	0.0:0.0:1.0:0.0	.	881	Q8TD84	DSCL1_HUMAN	K	671;941;648	ENSP00000434335:Q671K;ENSP00000315465:Q941K	ENSP00000315465:Q941K	Q	-	1	0	DSCAML1	116857114	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.309000	0.78937	2.329000	0.79093	0.485000	0.47835	CAA			0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392907.2		NM_020693		T	117351904	G	T	117351904	3	4	106	1	0	0	0	0	1	0	0	0	4774	1357	47	3	3604	3	DSCAML1	11	117351904	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	90633150	117351904	17654612	46	7903											
SRPR	6734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	126135872	126135872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccaatgagatgatcaCgcatcttgtccagcacagat	13	10	7	11	1	2	3	1	2	1	2	3	4	3	3	2	0	2	2	2	0	2	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr11:126135872C>G	ENST00000332118.6	-	8	1191	c.1037G>C	c.(1036-1038)cGt>cCt	p.R346P	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.R318P	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	346					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)		GAGATGATCACGCATCTTGTC	0.507																																					p.R346P													SRPR,NS,carcinoma,+1,1	SRPR	1	1	0			c.G1037C												211	196	201					11																	126135872		2201	4299	6500	SO:0001583	missense	6734	exon8			TGATCACGCATCT	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.1037G>C	11.37:g.126135872C>G	ENSP00000328023:p.Arg346Pro		91	0	0		63	0.16	10	NM_003139	232	0.59	138	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301343	0.60195	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.25	5.25	0.73442	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.049013	0.85682	D	0.000000	T	0.70081	0.3183	M	0.79011	2.435	0.58432	D	0.999996	D;D	0.62365	0.991;0.982	D;D	0.64237	0.923;0.923	T	0.72827	-0.4175	9	0.62326	D	0.03	-8.6593	6.2973	0.21093	0.0:0.7884:0.0:0.2116	.	318;346	E9PJS4;P08240	.;SRPR_HUMAN	P	346;318	.	ENSP00000328023:R346P	R	-	2	0	SRPR	125641082	1.000000	0.71417	0.991000	0.47740	0.646000	0.38490	3.951000	0.56684	2.738000	0.93877	0.655000	0.94253	CGT			0.507	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386425.2		NM_003139		G	126135872	C	G	126135872	3	3	106	1	0	0	0	0	1	0	0	0	15185	536	19	5	907	5	SRPR	11	126135872	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	8783968	126135872	8870644	47	7904											
AQP6	363	broad.mit.edu	37	chr12	50369380	50369380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtagaggtggggacagggGcaggggcaggggcggagccc	7	2	23	9	2	0	1	0	0	0	1	0	3	0	3	2	10	1	3	2	10	1	1	rs566077374		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr12:50369380G>A	ENST00000315520.5	+	4	1112	c.775G>A	c.(775-777)Gca>Aca	p.A259T	AQP6_ENST00000551733.1_Missense_Mutation_p.A85T	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	259					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						GGGGACAGGGGCAGGGGCAGG	0.652													G|||	1	0.000199681	0	0	5008	,	,		13900	0.001		0	False		,,,				2504	0				p.A259T													.	AQP6	25		0			c.G775A												31	38	35					12																	50369380		2203	4300	6503	SO:0001583	missense	363	exon4			ACAGGGGCAGGGG	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.775G>A	12.37:g.50369380G>A	ENSP00000320247:p.Ala259Thr		107	0	0		217	0.02	5	NM_001652	2	0	0		Missense_Mutation	SNP	ENST00000315520.5	37	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	G	0.377	-0.930601	0.02359	.	.	ENSG00000086159	ENST00000551733;ENST00000315520	D;D	0.94828	-3.53;-2.2	0.225	-0.451	0.12214	.	2.066580	0.03066	N	0.156570	D	0.84620	0.5512	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75631	-0.3251	9	0.10636	T	0.68	.	.	.	.	.	259	Q13520	AQP6_HUMAN	T	85;259	ENSP00000449830:A85T;ENSP00000320247:A259T	ENSP00000320247:A259T	A	+	1	0	AQP6	48655647	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.065000	0.11617	-0.779000	0.04560	-0.786000	0.03341	GCA			0.652	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257528.2		NM_001652, NM_053286		A	50369380	G	A	50369380	3	1	106	1	0	0	0	0	1	0	0	0	830	1203	42	2	789	2	AQP6	12	50369380	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		50369380	83482515	48	7905											
TBC1D15	64786	mdanderson.org	37	chr12	72266784	72266784	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtattctctatgctagaaagGtatttaagaaaaaaatgtgt	16	14	8	3	0	1	2	0	0	1	2	2	2	1	2	0	1	1	3	0	1	9	7			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr12:72266784G>T	ENST00000550746.1	+	3	268		c.e3+1		TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCTAGAAAGGTATTTAAGAA	0.308																																					.													.	.			0			c.204+1G>T												98	106	104					12																	72266784		2203	4299	6502	SO:0001630	splice_region_variant	64786	exon3			AGAAAGGTATTTA	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.204+1G>T	12.37:g.72266784G>T			48	0	0		50	0.06	3	NM_001146213	2	0	0	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Splice_Site	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264091	0.80358	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3389	0.94334	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D15	70553051	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.993000	0.70616	2.575000	0.86900	0.655000	0.94253	.			0.308	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000351266.2		NM_022771	Intron	T	72266784	G	T	72266784	5	4	106	1	0	0	0	0	0	0	1	0	15627	1275	44	3	339	3	TBC1D15	12	72266784	Splice_Site	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	21897404	72266784	61585111	49	7906											
PUS1	80324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	132426156	132426156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagggtgaagggccagagCttcatgatgcatcagatccg	11	8	13	9	1	3	4	3	2	0	2	4	4	4	4	2	2	2	2	2	2	1	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr12:132426156C>G	ENST00000376649.3	+	5	1364	c.864C>G	c.(862-864)agC>agG	p.S288R	PUS1_ENST00000542167.2_Missense_Mutation_p.S235R|PUS1_ENST00000440818.2_Missense_Mutation_p.S260R|PUS1_ENST00000443358.2_Missense_Mutation_p.S260R|PUS1_ENST00000535067.1_Intron	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	288					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGGGCCAGAGCTTCATGATGC	0.602																																					p.S288R	Esophageal Squamous(102;671 2009 17384 45666)												.	.			0			c.C864G												149	143	145					12																	132426156		2203	4300	6503	SO:0001583	missense	80324	exon5			CCAGAGCTTCATG	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.864C>G	12.37:g.132426156C>G	ENSP00000365837:p.Ser288Arg		108	0	0		122	0.1	12	NM_025215	163	0.16	26	A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539373	0.65085	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	5.17	4.07	0.47477	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.81861	0.4912	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86547	0.1832	10	0.87932	D	0	-10.5566	11.9683	0.53049	0.0:0.837:0.0:0.163	.	235;288	F5H1S9;Q9Y606	.;TRUA_HUMAN	R	260;288;260;260;235	ENSP00000392451:S260R;ENSP00000365837:S288R;ENSP00000324726:S260R;ENSP00000400032:S260R;ENSP00000438948:S235R	ENSP00000324726:S260R	S	+	3	2	PUS1	130992109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.518000	0.45537	2.405000	0.81733	0.491000	0.48974	AGC			0.602	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250313.2		NM_025215		G	132426156	C	G	132426156	3	3	106	1	0	0	0	0	1	0	0	0	12853	796	28	5	882	5	PUS1	12	132426156	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	60159372	132426156	1425739	50	7907											
GPC5	2262	mdanderson.org	37	chr13	92051332	92051332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctggcccgtgggctttcGctgcctcctccttctggccc	1	11	11	18	2	1	0	0	0	1	0	4	1	3	0	6	3	1	2	6	3	0	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr13:92051332G>A	ENST00000377067.3	+	1	404	c.32G>A	c.(31-33)cGc>cAc	p.R11H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	11					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)				GTGGGCTTTCGCTGCCTCCTC	0.677																																					p.R11H													.	.			0			c.G32A												30	28	29					13																	92051332		2188	4281	6469	SO:0001583	missense	2262	exon1			GCTTTCGCTGCCT	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.32G>A	13.37:g.92051332G>A	ENSP00000366267:p.Arg11His		49	0	0		31	0.1	3	NM_004466	0		0	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182869	0.38511	.	.	ENSG00000179399	ENST00000377067	T	0.51325	0.71	4.0	2.04	0.26737	.	0.648332	0.14560	N	0.312114	T	0.28101	0.0693	N	0.22421	0.69	0.09310	N	0.999994	P	0.38167	0.621	B	0.37047	0.24	T	0.07462	-1.0771	10	0.27082	T	0.32	.	4.9109	0.13821	0.1214:0.2187:0.6599:0.0	.	11	P78333	GPC5_HUMAN	H	11	ENSP00000366267:R11H	ENSP00000366267:R11H	R	+	2	0	GPC5	90849333	0.041000	0.20044	0.430000	0.26722	0.543000	0.35085	0.121000	0.15667	0.959000	0.37980	0.471000	0.43371	CGC			0.677	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045454.1		NM_004466		A	92051332	G	A	92051332	3	1	106	1	0	0	0	0	1	0	0	0	6615	1087	38	1	34	1	GPC5	13	92051332	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		92051332	23118546	51	7908											
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	28474449	28474449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcagcatccgattaaaagGcgggatcaaatcaacatcct	15	7	8	11	2	2	0	2	0	0	0	4	2	4	1	2	2	3	2	2	2	4	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr15:28474449G>A	ENST00000261609.7	-	34	5272	c.5164C>T	c.(5164-5166)Cct>Tct	p.P1722S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGATTAAAAGGCGGGATCAAA	0.408																																					p.P1722S													.	.			0			c.C5164T												76	84	81					15																	28474449		2202	4280	6482	SO:0001583	missense	8924	exon34			TAAAAGGCGGGAT	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5164C>T	15.37:g.28474449G>A	ENSP00000261609:p.Pro1722Ser		214	0	0		233	0.11	25	NM_004667	11	0.09	1		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462354	0.63513	.	.	ENSG00000128731	ENST00000261609	T	0.51325	0.71	4.27	4.27	0.50696	.	0.061460	0.64402	D	0.000004	T	0.47040	0.1424	L	0.54323	1.7	0.80722	D	1	P	0.47409	0.895	B	0.42030	0.373	T	0.57039	-0.7879	10	0.62326	D	0.03	.	16.8954	0.86099	0.0:0.0:1.0:0.0	.	1722	O95714	HERC2_HUMAN	S	1722	ENSP00000261609:P1722S	ENSP00000261609:P1722S	P	-	1	0	HERC2	26148044	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.229000	0.95273	2.194000	0.70268	0.555000	0.69702	CCT			0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251358.2		NM_004667		A	28474449	G	A	28474449	3	1	106	1	0	0	0	0	1	0	0	0	7073	1203	42	2	9580	2	HERC2	15	28474449	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		28474449	74056943	52	7909											
RYR3	6263	broad.mit.edu;mdanderson.org	37	chr15	34048566	34048566	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaccaggagatcaaattcTttgccaaagtaagtggccct	12	10	10	9	0	2	2	1	1	1	1	2	3	2	2	3	2	1	1	3	2	3	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr15:34048566T>G	ENST00000389232.4	+	59	8645	c.8575T>G	c.(8575-8577)Ttt>Gtt	p.F2859V	RYR3_ENST00000415757.3_Missense_Mutation_p.F2859V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2859					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)		GATCAAATTCTTTGCCAAAGT	0.413																																					p.F2859V													.	RYR3	760		0			c.T8575G												73	71	72					15																	34048566		1860	4103	5963	SO:0001583	missense	6263	exon59			AAATTCTTTGCCA		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.8575T>G	15.37:g.34048566T>G	ENSP00000373884:p.Phe2859Val		76	0	0		84	0.06	5	NM_001243996	0		0	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867214	0.91511	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98835	-5.17;-5.15	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.71036	2.16	0.80722	D	1	D;P	0.62365	0.991;0.942	P;P	0.59595	0.86;0.684	D	0.99659	1.0993	10	0.87932	D	0	.	15.4481	0.75248	0.0:0.0:0.0:1.0	.	2859;2859	Q15413-2;Q15413	.;RYR3_HUMAN	V	2859	ENSP00000373884:F2859V;ENSP00000399610:F2859V	ENSP00000354735:F2859V	F	+	1	0	RYR3	31835858	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.383000	0.79741	2.371000	0.80710	0.533000	0.62120	TTT			0.413	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000417514.1				G	34048566	T	G	34048566	3	3	106	1	0	0	0	0	1	0	0	0	13793	1609	56	4	8809	4	RYR3	15	34048566	Missense_Mutation	SNP	T	TCGA-WZ-A7V5-01A-11D-A435-10	5574117	34048566	68482826	53	7910											
MYO5A	4644	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr15	52645822	52645822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgagtgactcatattccaGttctgcacctctaatttgtg	8	16	7	10	0	3	2	1	2	2	0	4	2	4	2	2	0	1	2	2	0	2	6			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr15:52645822G>C	ENST00000399231.3	-	27	3844	c.3601C>G	c.(3601-3603)Ctg>Gtg	p.L1201V	MYO5A_ENST00000399233.2_Missense_Mutation_p.L1201V|MYO5A_ENST00000553916.1_Missense_Mutation_p.L1201V|MYO5A_ENST00000358212.6_Missense_Mutation_p.L1201V|MYO5A_ENST00000356338.6_Missense_Mutation_p.L1201V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1201					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)		TCATATTCCAGTTCTGCACCT	0.353																																					p.L1201V													.	.			0			c.C3601G												114	110	111					15																	52645822		1812	4079	5891	SO:0001583	missense	4644	exon27			ATTCCAGTTCTGC		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.3601C>G	15.37:g.52645822G>C	ENSP00000382177:p.Leu1201Val		110	0	0		105	0.09	9	NM_000259	49	0.22	11	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438205	0.62955	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.20598	3.5;3.5;2.06;3.5;2.06	5.92	3.94	0.45596	.	0.073354	0.56097	D	0.000024	T	0.32882	0.0844	L	0.43152	1.355	0.53688	D	0.999974	B;D	0.76494	0.255;0.999	B;D	0.66602	0.046;0.945	T	0.01596	-1.1316	10	0.42905	T	0.14	.	9.7924	0.40715	0.2549:0.0:0.7451:0.0	.	1201;1201	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	V	1201;735;1201;1201;1201;831;1201	ENSP00000382177:L1201V;ENSP00000382179:L1201V;ENSP00000348693:L1201V;ENSP00000350945:L1201V;ENSP00000451109:L1201V	ENSP00000348693:L1201V	L	-	1	2	MYO5A	50433114	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.086000	0.50159	0.739000	0.32628	-0.136000	0.14681	CTG			0.353	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268102.1		NM_000259		C	52645822	G	C	52645822	3	2	106	1	0	0	0	0	1	0	0	0	10094	1020	36	5	2026	5	MYO5A	15	52645822	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	18597256	52645822	49885570	54	7911											
CYP1A1	1543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	75015099	75015099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaccattactgatgaGggtgaaggtgtagaggtcgg	9	10	16	6	1	1	5	0	4	1	1	2	5	1	5	1	4	1	2	1	4	3	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr15:75015099G>T	ENST00000379727.3	-	2	538	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	CYP1A1_ENST00000395049.4_Missense_Mutation_p.L114I|CYP1A1_ENST00000395048.2_Missense_Mutation_p.L114I|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Missense_Mutation_p.L114I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	114					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	TTACTGATGAGGGTGAAGGTG	0.632									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.L114I													.	.			0			c.C340A												49	49	49					15																	75015099		2197	4295	6492	SO:0001583	missense	1543	exon2	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	TGATGAGGGTGAA	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.340C>A	15.37:g.75015099G>T	ENSP00000369050:p.Leu114Ile		49	0	0		70	0.14	10	NM_000499	0		0	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486319	0.26686	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.68624	-0.34;-0.34;-0.34	5.23	-3.3	0.05003	.	0.559079	0.19708	N	0.107863	T	0.69663	0.3136	M	0.62154	1.92	0.09310	N	1	P;P	0.45902	0.868;0.458	P;P	0.53760	0.734;0.591	T	0.68029	-0.5517	10	0.52906	T	0.07	.	13.1229	0.59338	0.7456:0.0:0.2544:0.0	.	114;114	E7EMT5;P04798	.;CP1A1_HUMAN	I	114	ENSP00000369050:L114I;ENSP00000378488:L114I;ENSP00000378489:L114I	ENSP00000268062:L114I	L	-	1	0	CYP1A1	72802152	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.153000	0.10144	-0.522000	0.06417	-0.362000	0.07510	CTC			0.632	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286396.1		NM_000499		T	75015099	G	T	75015099	3	4	106	1	0	0	0	0	1	0	0	0	4151	1000	35	3	1222	3	CYP1A1	15	75015099	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	22369277	75015099	27516293	55	7912											
AP3B2	8120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	83357926	83357926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacctctatgttcttacagGccacgttcttcaccaccgcg	7	12	6	16	3	5	0	2	0	3	0	5	0	5	0	4	1	1	2	4	1	2	5			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr15:83357926G>A	ENST00000261722.3	-	3	455	c.248C>T	c.(247-249)gCc>gTc	p.A83V	AP3B2_ENST00000561455.1_5'UTR|AP3B2_ENST00000542200.1_Missense_Mutation_p.A83V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.A83V|AP3B2_ENST00000535359.1_Missense_Mutation_p.A83V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	83					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTTCTTACAGGCCACGTTCTT	0.547																																					p.A83V													.	.			0			c.C248T												67	67	67					15																	83357926		2015	4172	6187	SO:0001583	missense	8120	exon3			TTACAGGCCACGT	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.248C>T	15.37:g.83357926G>A	ENSP00000261722:p.Ala83Val		105	0	0		125	0.12	15	NM_004644	26	0.35	9	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093959	0.56075	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693;ENST00000542200;ENST00000535513	T;T;T;T;T	0.28895	1.59;2.54;1.59;1.59;1.59	5.96	5.96	0.96718	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	N	0.17379	0.485	0.80722	D	1	B;P;P;P	0.37500	0.046;0.477;0.565;0.597	B;B;B;P	0.44647	0.027;0.371;0.23;0.456	T	0.01666	-1.1300	10	0.07030	T	0.85	-25.976	20.3928	0.98949	0.0:0.0:1.0:0.0	.	83;83;83;83	F5H0E6;B7ZKR7;B7ZKS0;Q13367	.;.;.;AP3B2_HUMAN	V	83;83;83;39;83;83	ENSP00000261722:A83V;ENSP00000438721:A83V;ENSP00000440984:A83V;ENSP00000441961:A39V;ENSP00000440719:A83V	ENSP00000261722:A83V	A	-	2	0	AP3B2	81154980	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.733000	0.98818	2.813000	0.96785	0.655000	0.94253	GCC			0.547	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397463.1				A	83357926	G	A	83357926	3	1	106	1	0	0	0	0	1	0	0	0	745	1203	42	2	3020	2	AP3B2	15	83357926	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	8342827	83357926	19173466	56	7913											
AKAP13	11214	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	86076953	86076953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaattcctagcaaccagtgCtggaaatcagcaggctttga	12	10	9	10	0	2	1	2	1	0	0	3	2	3	2	2	2	4	4	2	2	4	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr15:86076953C>G	ENST00000394518.2	+	4	415	c.320C>G	c.(319-321)gCt>gGt	p.A107G	AKAP13_ENST00000361243.2_Missense_Mutation_p.A107G|AKAP13_ENST00000560302.1_Missense_Mutation_p.A107G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	107					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						GCAACCAGTGCTGGAAATCAG	0.493																																					p.A107G	Melanoma(94;603 1453 3280 32295 32951)												.	AKAP13	394		0			c.C320G												124	119	121					15																	86076953		2202	4299	6501	SO:0001583	missense	11214	exon4			CCAGTGCTGGAAA	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.320C>G	15.37:g.86076953C>G	ENSP00000378026:p.Ala107Gly		169	0	0		189	0.12	23	NM_007200	11	0.18	2	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724656	0.89298	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.61274	0.12;0.12	5.67	5.67	0.87782	.	.	.	.	.	T	0.72277	0.3440	L	0.46157	1.445	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	T	0.73084	-0.4094	9	0.87932	D	0	.	19.115	0.93334	0.0:1.0:0.0:0.0	.	107;107;107	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	G	107;107;106;106	ENSP00000354718:A107G;ENSP00000378026:A107G	ENSP00000354718:A107G	A	+	2	0	AKAP13	83877957	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	3.726000	0.54977	2.828000	0.97474	0.655000	0.94253	GCT			0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000417318.1		NM_007200		G	86076953	C	G	86076953	3	3	106	1	0	0	0	0	1	0	0	0	449	797	28	5	330	5	AKAP13	15	86076953	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	2719027	86076953	16454439	57	7914											
WDR24	84219	mdanderson.org	37	chr16	737638	737638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcgcaccggtcgggacGccggatgtcccagagctgca	6	6	13	16	5	1	1	0	0	1	1	4	3	2	3	4	3	2	3	4	3	0	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr16:737638G>A	ENST00000248142.6	-	6	972	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	WDR24_ENST00000293883.4_Missense_Mutation_p.R195C|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	325										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGGTCGGGACGCCGGATGTCC	0.637																																					p.R195C													.	.			0			c.C583T												103	86	92					16																	737638		2199	4300	6499	SO:0001583	missense	84219	exon2			CGGGACGCCGGAT	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.973C>T	16.37:g.737638G>A	ENSP00000248142:p.Arg325Cys		65	0	0		47	0.06	3	NM_032259	63	0	0	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37		.	.	.	.	.	.	.	.	.	.	G	16.63	3.177182	0.57692	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.29655	1.56;1.56	5.05	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.50591	-0.8810	10	0.87932	D	0	-13.0716	12.7391	0.57241	0.0:0.0:0.6114:0.3886	.	195	Q96S15-2	.	C	325;195	ENSP00000248142:R325C;ENSP00000293883:R195C	ENSP00000248142:R325C	R	-	1	0	WDR24	677639	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	1.907000	0.39897	1.307000	0.44944	0.650000	0.86243	CGT			0.637	WDR24-201	KNOWN	basic	protein_coding	protein_coding				NM_032259		A	737638	G	A	737638	3	1	106	1	0	0	0	0	1	0	0	0	17305	1087	38	1	1821	1	WDR24	16	737638	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		737638	89617115	58	7915											
ARHGAP17	55114	mdanderson.org	37	chr16	24950698	24950698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccttacctgccgtcgcctgGgctcggcccctgctccagta	3	10	10	18	3	0	0	0	0	0	0	4	0	2	0	7	2	3	3	7	2	2	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr16:24950698G>T	ENST00000289968.6	-	17	1780	c.1711C>A	c.(1711-1713)Cca>Aca	p.P571T	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	571	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCGTCGCCTGGGCTCGGCCCC	0.677																																					p.P571T													.	.			0			c.C1711A												15	19	17					16																	24950698		2186	4272	6458	SO:0001583	missense	55114	exon17			CGCCTGGGCTCGG	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.1711C>A	16.37:g.24950698G>T	ENSP00000289968:p.Pro571Thr		32	0	0		32	0.09	3	NM_001006634	42	0	0	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064870	0.36470	.	.	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.20738	2.05	5.32	5.32	0.75619	.	0.165614	0.28946	N	0.013630	T	0.20901	0.0503	L	0.47716	1.5	0.80722	D	1	P;P	0.36535	0.501;0.557	B;B	0.39258	0.058;0.295	T	0.02059	-1.1221	10	0.13470	T	0.59	.	14.3713	0.66840	0.0:0.0:1.0:0.0	.	571;104	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	T	571	ENSP00000289968:P571T	ENSP00000289968:P571T	P	-	1	0	ARHGAP17	24858199	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	3.221000	0.51215	2.767000	0.95098	0.655000	0.94253	CCA			0.677	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436548.3		NM_018054		T	24950698	G	T	24950698	3	4	106	1	0	0	0	0	1	0	0	0	867	1232	43	3	950	3	ARHGAP17	16	24950698	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	24213060	24950698	65404055	59	7916											
ADCY7	113	mdanderson.org	37	chr16	50334626	50334626	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgggccactctgccccagGcaggtgcgggaggccacggg	6	4	17	14	2	1	0	0	0	1	0	1	1	1	1	4	6	2	1	4	6	0	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr16:50334626G>T	ENST00000394697.2	+	9	1417	c.1077G>T	c.(1075-1077)aaG>aaT	p.K359N	ADCY7_ENST00000537579.1_Splice_Site_p.K359N|ADCY7_ENST00000566433.2_Splice_Site_p.K359N|ADCY7_ENST00000254235.3_Splice_Site_p.K359N|ADCY7_ENST00000538642.1_Splice_Site_p.K359N			P51828	ADCY7_HUMAN	adenylate cyclase 7	359	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 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)		TCTGCCCCAGGCAGGTGCGGG	0.657																																					p.K359N													.	.			0			c.G1077T												52	45	48					16																	50334626		2033	3944	5977	SO:0001630	splice_region_variant	113	exon8			CCCCAGGCAGGTG	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.1077-1G>T	16.37:g.50334626G>T			55	0	0		44	0.07	3	NM_001114	16	0	0	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749411	0.69533	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	4.83	4.83	0.62350	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.46442	U	0.000288	D	0.83385	0.5243	L	0.35793	1.09	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79108	0.992;0.991	T	0.82074	-0.0637	9	.	.	.	.	12.3848	0.55327	0.082:0.0:0.918:0.0	.	359;359	P51828;F5H4D1	ADCY7_HUMAN;.	N	359	ENSP00000445046:K359N;ENSP00000378187:K359N;ENSP00000437788:K359N;ENSP00000254235:K359N	.	K	+	3	2	ADCY7	48892127	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	3.964000	0.56780	2.209000	0.71365	0.313000	0.20887	AAG			0.657	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256877.3			Missense_Mutation	T	50334626	G	T	50334626	5	4	106	1	0	0	0	0	0	0	1	0	299	1217	42	2	1107	2	ADCY7	16	50334626	Splice_Site	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	25383928	50334626	40020127	60	7917											
RTN4RL1	146760	mdanderson.org	37	chr17	1840549	1840549	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccccggaaggtgcccggGcccagactccacagcttgtt	7	6	13	15	2	0	1	0	0	0	1	1	2	1	2	5	4	2	2	5	4	1	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:1840549G>T	ENST00000331238.6	-	2	1046	c.567C>A	c.(565-567)ggC>ggA	p.G189G		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGGTGCCCGGGCCCAGACTCC	0.617																																					p.G189G	GBM(68;949 1139 14865 32798 38342)												.	.			0			c.C567A												35	40	38					17																	1840549		1985	4152	6137	SO:0001819	synonymous_variant	146760	exon2			GCCCGGGCCCAGA	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.567C>A	17.37:g.1840549G>T			28	0	0		27	0.11	3	NM_178568	12	0	0		Silent	SNP	ENST00000331238.6	37	CCDS45569.1																																																																																					0.617	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450155.2		NM_178568		T	1840549	G	T	1840549	2	4	106	1	0	0	0	0	0	0	0	1	13754	1190	42	2		2	RTN4RL1	17	1840549	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		1840549	79354661	61	7918											
NLGN2	57555	mdanderson.org	37	chr17	7311730	7311730	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcctacgggcgagtgcgCggtgtgcggcgcgagctcaa	6	5	18	12	8	1	0	1	0	0	0	1	2	1	0	1	4	4	1	1	4	2	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:7311730C>T	ENST00000302926.2	+	1	229	c.156C>T	c.(154-156)cgC>cgT	p.R52R	NLGN2_ENST00000575301.1_Silent_p.R52R|NLGN2_ENST00000572893.1_Intron	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	52					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGCGAGTGCGCGGTGTGCGGC	0.776																																					p.R52R													.	.			0			c.C156T												7	7	7					17																	7311730		2034	4017	6051	SO:0001819	synonymous_variant	57555	exon1			AGTGCGCGGTGTG	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.156C>T	17.37:g.7311730C>T			34	0	0		22	0.14	3	NM_020795	4	0	0	Q9P2I1	Silent	SNP	ENST00000302926.2	37	CCDS11103.1																																																																																					0.776	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226941.2		NM_020795		T	7311730	C	T	7311730	2	4	106	1	0	0	0	0	0	0	0	1	10479	755	27	1		1	NLGN2	17	7311730	Silent	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	5471181	7311730	73883480	62	7919											
DNAH2	146754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7637852	7637852	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggagactgtggagacAggagaaaatttaggtcctct	12	8	13	8	0	1	3	0	0	1	3	2	6	2	3	2	4	0	0	2	4	3	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:7637852A>T	ENST00000572933.1	+	7	2264	c.804A>T	c.(802-804)acA>acT	p.T268T	DNAH2_ENST00000082259.3_Silent_p.T268T|DNAH2_ENST00000570791.1_Silent_p.T268T|DNAH2_ENST00000389173.2_Silent_p.T268T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	268	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)				CTGTGGAGACAGGAGAAAATT	0.527																																					p.T268T													.	.			0			c.A804T												89	84	86					17																	7637852		2203	4300	6503	SO:0001819	synonymous_variant	146754	exon6			GGAGACAGGAGAA	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.804A>T	17.37:g.7637852A>T			66	0	0		53	0.15	8	NM_020877	0		0	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																					0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440241.1		NM_020877		T	7637852	A	T	7637852	2	4	106	1	0	0	0	0	0	0	0	1	4607	175	7	5		5	DNAH2	17	7637852	Silent	SNP	A	TCGA-WZ-A7V5-01A-11D-A435-10	326122	7637852	73557358	63	7920											
DNAH2	146754	mdanderson.org	37	chr17	7726883	7726883	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcatgaactcctttgagCagtaccctcgtgactggcac	9	10	9	13	1	1	3	1	3	0	0	3	4	2	3	2	1	3	3	2	1	2	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:7726883C>T	ENST00000572933.1	+	74	12726	c.11266C>T	c.(11266-11268)Cag>Tag	p.Q3756*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q3756*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3756					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)				CTCCTTTGAGCAGTACCCTCG	0.532																																					p.Q3756X													.	.			0			c.C11266T												173	132	146					17																	7726883		2203	4300	6503	SO:0001587	stop_gained	146754	exon73			TTTGAGCAGTACC	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.11266C>T	17.37:g.7726883C>T	ENSP00000458355:p.Gln3756*		79	0	0		75	0.05	4	NM_020877	1	0	0	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	52	19.673128	0.99922	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.89	3.91	0.45181	.	0.202696	0.42294	D	0.000736	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	13.5596	0.61782	0.1573:0.8427:0.0:0.0	.	.	.	.	X	3717;3756	.	ENSP00000353818:Q3717X	Q	+	1	0	DNAH2	7667608	1.000000	0.71417	0.983000	0.44433	0.982000	0.71751	2.953000	0.49105	1.280000	0.44463	0.609000	0.83330	CAG			0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440241.1		NM_020877		T	7726883	C	T	7726883	4	4	106	1	0	0	0	0	0	1	0	0	4607	711	25	2	11556	2	DNAH2	17	7726883	Nonsense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	89031	7726883	73468327	64	7921											
DNAH9	1770	bcgsc.ca;mdanderson.org	37	chr17	11583113	11583113	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttataaagaagagtgagagCggcttactcaagaaagttga	16	10	11	4	1	1	5	1	2	0	4	1	6	1	5	0	1	2	2	0	1	7	5			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:11583113C>T	ENST00000262442.4	+	18	3461	c.3393C>T	c.(3391-3393)agC>agT	p.S1131S	DNAH9_ENST00000454412.2_Silent_p.S1131S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1131	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.S1131S(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)		AGAGTGAGAGCGGCTTACTCA	0.433																																					p.S1131S													DNAH9,colon,carcinoma,0,1	DNAH9	695	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C3393T												139	138	138					17																	11583113		2203	4300	6503	SO:0001819	synonymous_variant	1770	exon18			TGAGAGCGGCTTA	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.3393C>T	17.37:g.11583113C>T			70	0	0		44	0.11	5	NM_001372	0		0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																					0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252756.2		NM_001372		T	11583113	C	T	11583113	2	4	106	1	0	0	0	0	0	0	0	1	4613	767	27	1		1	DNAH9	17	11583113	Silent	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	3856230	11583113	69612097	65	7922											
RAI1	10743	ucsc.edu	37	chr17	17697105	17697105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctatgaccagcagcagcaGcagcagcagcagcagcagca	14	2	12	13	0	0	1	0	1	0	0	0	1	0	1	1	0	11	11	1	0	1	1	rs398124422|rs587780431		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:17697105G>A	ENST00000353383.1	+	3	1312	c.843G>A	c.(841-843)caG>caA	p.Q281Q	RAI1_ENST00000261641.6_Silent_p.Q281Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	281	Gln-rich.|Poly-Gln.				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)		agcagcagcagcagcagcagc	0.632																																					p.Q281Q													.	RAI1	121		0			c.G843A												20	25	24					17																	17697105		2020	4001	6021	SO:0001819	synonymous_variant	10743	exon3			GCAGCAGCAGCAG	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.843G>A	17.37:g.17697105G>A			58	0.0172413793	1		36	0.11	4	NM_030665	10	0	0	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	CCDS11188.1																																																																																					0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131775.1		NM_030665		A	17697105	G	A	17697105	2	1	106	1	0	0	0	0	0	0	0	1	13030	962	34	2		2	RAI1	17	17697105	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	6113992	17697105	63498105	66	7923											
CCDC144B	348254	mdanderson.org	37	chr17	18513400	18513400	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtagctgtgattggcacagGtcatggagagtatcattccc	9	11	13	8	0	2	2	2	1	0	1	3	3	3	2	1	4	1	4	1	4	2	4	rs377459168		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:18513400G>A								CCDC144B (3696 upstream) : TBC1D28 (24918 downstream)																							ATTGGCACAGGTCATGGAGAG	0.438																																					.													.	.			0			.												103	105	105					17																	18513400		1843	4082	5925	SO:0001628	intergenic_variant	284047	.			GCACAGGTCATGG																													17.37:g.18513400G>A			452	0	0		406	0.09	35	.	0		0		RNA	SNP		37																																																																																					0	0.438											A	18513400	G	A	18513400	1	1	106	0	1	0	0	0	0	0	0	0	2780	1252	44	3		3	CCDC144B	17	18513400	IGR	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	816295	18513400	62681810	67	7924											
PIGS	94005	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	26897967	26897967	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacacgacagtgacaggCaccatgaggcggagctacag	14	4	13	10	2	0	2	0	2	0	0	0	4	0	3	1	3	3	3	1	3	3	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:26897967C>A	ENST00000308360.7	-	3	564	c.189G>T	c.(187-189)gtG>gtT	p.V63V	PIGS_ENST00000543734.1_Silent_p.V2V|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000395346.2_Silent_p.V55V	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	63					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)					CAGTGACAGGCACCATGAGGC	0.612																																					p.V63V													.	.			0			c.G189T												102	101	101					17																	26897967		2203	4300	6503	SO:0001819	synonymous_variant	94005	exon3			GACAGGCACCATG		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.189G>T	17.37:g.26897967C>A			134	0	0		154	0.06	10	NM_033198	40	0.18	7	Q6UVX6	Silent	SNP	ENST00000308360.7	37	CCDS11235.1																																																																																					0.612	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255833.3		NM_033198		A	26897967	C	A	26897967	2	1	106	1	0	0	0	0	0	0	0	1	11915	697	25	2		2	PIGS	17	26897967	Silent	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	8384567	26897967	54297243	68	7925											
PSMD11	5717	broad.mit.edu	37	chr17	30771555	30771555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaagatggcggcggcggCggtggtggagttccagagag	7	6	21	7	5	0	2	0	0	0	2	1	4	1	3	1	8	0	2	1	8	1	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:30771555C>T	ENST00000261712.3	+	1	277	c.14C>T	c.(13-15)gCg>gTg	p.A5V	PSMD11_ENST00000457654.2_Missense_Mutation_p.A5V	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.701																																					p.A5V	Ovarian(130;1038 1716 9294 11987 19279)												.	PSMD11	41		0			c.C14T												18	18	18					17																	30771555		2186	4270	6456	SO:0001583	missense	5717	exon1			CGGCGGCGGTGGT	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.14C>T	17.37:g.30771555C>T	ENSP00000261712:p.Ala5Val		184	0.0108695652	2		224	0.03	7	NM_002815	98	0	0	A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999150	0.74818	.	.	ENSG00000108671	ENST00000261712	.	.	.	5.25	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.08118	0	0.53688	D	0.999975	P;B	0.37038	0.579;0.212	B;B	0.33392	0.163;0.049	T	0.08086	-1.0739	9	0.27785	T	0.31	-19.5166	11.4424	0.50105	0.0:0.9133:0.0:0.0867	.	5;5	B4DTS5;O00231	.;PSD11_HUMAN	V	5	.	ENSP00000261712:A5V	A	+	2	0	PSMD11	27795668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.945000	0.75947	1.455000	0.47813	0.558000	0.71614	GCG			0.701	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256252.2		NM_002815		T	30771555	C	T	30771555	3	4	106	1	0	0	0	0	1	0	0	0	12714	768	27	1	16	1	PSMD11	17	30771555	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	3873588	30771555	50423655	69	7926											
JUP	3728	mdanderson.org	37	chr17	39925795	39925795	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggacggctcggccagtcGctgcaggttggtggcctgcc	3	8	17	13	3	0	0	0	0	0	0	2	1	0	1	3	6	2	4	3	6	0	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:39925795G>T	ENST00000393931.3	-	3	461	c.343C>A	c.(343-345)Cga>Aga	p.R115R	JUP_ENST00000310706.5_Silent_p.R115R|JUP_ENST00000393930.1_Silent_p.R115R|JUP_ENST00000540235.1_Silent_p.R115R	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	115					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCGGCCAGTCGCTGCAGGTTG	0.672																																					p.R115R	Colon(16;42 520 6044 17852 28530)												.	.			0			c.C343A												25	25	25					17																	39925795		2200	4290	6490	SO:0001819	synonymous_variant	3728	exon3			CCAGTCGCTGCAG	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.343C>A	17.37:g.39925795G>T			43	0	0		42	0.07	3	NM_002230	660	0	0	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	CCDS11407.1																																																																																					0.672	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257406.1				T	39925795	G	T	39925795	2	4	106	1	0	0	0	0	0	0	0	1	7987	1095	38	1		1	JUP	17	39925795	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	9154240	39925795	41269415	70	7927											
GFAP	2670	mdanderson.org	37	chr17	42989051	42989051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctcaccgtgccgcgcaGagactccaggtcgcaggtca	7	5	13	16	6	2	1	2	0	0	1	4	2	3	1	3	2	1	3	3	2	0	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:42989051G>T	ENST00000253408.5	-	5	960	c.895C>A	c.(895-897)Ctg>Atg	p.L299M	GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.L299M|GFAP_ENST00000586793.1_Missense_Mutation_p.L299M	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	299	Coil 2B.|Rod.				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)				GTGCCGCGCAGAGACTCCAGG	0.711																																					p.L299M													.	.			0			c.C895A												43	40	41					17																	42989051		2202	4298	6500	SO:0001583	missense	2670	exon5			CGCGCAGAGACTC	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.895C>A	17.37:g.42989051G>T	ENSP00000253408:p.Leu299Met		41	0	0		35	0.09	3	NM_002055	0		0	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014253	0.35511	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.96200	-3.94;-3.94	4.38	-5.83	0.02325	Filament (1);	0.000000	0.64402	D	0.000003	D	0.95570	0.8560	L	0.60012	1.86	0.41871	D	0.990276	D;D	0.89917	1.0;0.99	D;D	0.77557	0.99;0.964	D	0.93589	0.6919	10	0.56958	D	0.05	.	11.9787	0.53107	0.2804:0.0:0.6193:0.1003	.	299;299	E9PAX3;P14136	.;GFAP_HUMAN	M	299;274;299	ENSP00000253408:L299M;ENSP00000403962:L299M	ENSP00000253408:L299M	L	-	1	2	GFAP	40344577	1.000000	0.71417	0.580000	0.28601	0.008000	0.06430	0.989000	0.29629	-1.268000	0.02439	-0.355000	0.07637	CTG			0.711	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448701.1		NM_002055		T	42989051	G	T	42989051	3	4	106	1	0	0	0	0	1	0	0	0	6351	933	33	3	552	3	GFAP	17	42989051	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	3063256	42989051	38206159	71	7928											
MPO	4353	ucsc.edu;bcgsc.ca	37	chr17	56355398	56355398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgaaggaagtgagcgCgttgatctggttgcggatgg	8	9	17	7	4	1	2	0	2	1	0	2	5	2	4	1	4	2	2	1	4	2	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:56355398C>A	ENST00000225275.3	-	7	1170	c.994G>T	c.(994-996)Gcg>Tcg	p.A332S	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.A364S	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	332					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)	GAAGTGAGCGCGTTGATCTGG	0.637																																					p.A332S													MPO,NS,carcinoma,0,1	MPO	114	1	0			c.G994T												113	97	102					17																	56355398		2203	4300	6503	SO:0001583	missense	4353	exon7			TGAGCGCGTTGAT		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.994G>T	17.37:g.56355398C>A	ENSP00000225275:p.Ala332Ser		41	0	0		36	0.11	4	NM_000250	3	0	0	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972830	0.53614	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.68903	-0.36;-0.36	5.32	3.19	0.36642	.	0.054931	0.64402	D	0.000001	T	0.64271	0.2583	L	0.54908	1.71	0.35998	D	0.837191	B	0.26708	0.157	B	0.36808	0.233	T	0.69420	-0.5150	10	0.44086	T	0.13	-24.8911	11.2691	0.49127	0.1425:0.7202:0.1372:0.0	.	332	P05164	PERM_HUMAN	S	364;332	ENSP00000344419:A364S;ENSP00000225275:A332S	ENSP00000225275:A332S	A	-	1	0	MPO	53710397	0.579000	0.26725	0.890000	0.34922	0.942000	0.58702	1.197000	0.32211	1.206000	0.43276	0.561000	0.74099	GCG			0.637	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443971.1				A	56355398	C	A	56355398	3	1	106	1	0	0	0	0	1	0	0	0	9748	768	27	1	1267	1	MPO	17	56355398	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	13366347	56355398	24839812	72	7929											
USP32	84669	mdanderson.org	37	chr17	58343352	58343352	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggaatatcatcagtGcggttgtccttccagacttc	9	13	8	11	1	2	1	2	0	0	1	5	2	4	2	2	2	2	1	2	2	3	5			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:58343352G>T	ENST00000300896.4	-	8	1106	c.912C>A	c.(910-912)cgC>cgA	p.R304R	USP32_ENST00000393003.3_Silent_p.R304R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	304					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TATCATCAGTGCGGTTGTCCT	0.388																																					p.R304R													.	.			0			c.C912A												111	100	104					17																	58343352		2203	4300	6503	SO:0001819	synonymous_variant	84669	exon8			ATCAGTGCGGTTG	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.912C>A	17.37:g.58343352G>T			63	0	0		46	0.07	3	NM_032582	48	0	0	Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	CCDS32697.1																																																																																					0.388	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449235.2		NM_032582		T	58343352	G	T	58343352	2	4	106	1	0	0	0	0	0	0	0	1	17087	1306	46	2		2	USP32	17	58343352	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	1987954	58343352	22851858	73	7930											
BRIP1	83990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	59934456	59934456	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatttctttcagaaggTggtgtgcttggatagttgaa	8	15	13	5	0	2	2	1	1	1	1	2	3	2	3	1	3	2	2	1	3	3	5			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:59934456T>C	ENST00000259008.2	-	4	609	c.342A>G	c.(340-342)ccA>ccG	p.P114P	BRIP1_ENST00000577598.1_Silent_p.P114P	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	114	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TTTCAGAAGGTGGTGTGCTTG	0.348			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																													p.P114P			yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	.	.			0			c.A342G												297	268	278					17																	59934456		2203	4300	6503	SO:0001819	synonymous_variant	83990	exon4			AGAAGGTGGTGTG	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.342A>G	17.37:g.59934456T>C			137	0	0		152	0.17	26	NM_032043	10	0.3	3	Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	CCDS11631.1																																																																																					0.348	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445362.1		NM_032043		C	59934456	T	C	59934456	2	2	106	1	0	0	0	0	0	0	0	1	1516	1683	59	4		4	BRIP1	17	59934456	Silent	SNP	T	TCGA-WZ-A7V5-01A-11D-A435-10	1591104	59934456	21260754	74	7931											
ACE	1636	mdanderson.org	37	chr17	61574511	61574511	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctcagctcgctcagaaggGcccctcccagacagcggccg	7	4	12	18	4	2	2	2	0	0	2	4	2	3	2	4	2	2	3	4	2	1	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:61574511G>T	ENST00000290866.4	+	25	3729	c.3705G>T	c.(3703-3705)ggG>ggT	p.G1235G	ACE_ENST00000577647.1_Intron|ACE_ENST00000490216.2_Intron|ACE_ENST00000413513.3_Silent_p.G620G|ACE_ENST00000290863.6_Silent_p.G661G|ACE_ENST00000421982.2_Silent_p.G440G|ACE_ENST00000428043.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1235					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)	GCTCAGAAGGGCCCCTCCCAG	0.721																																					p.G1235G													.	.			0			c.G3705T												12	15	14					17																	61574511		2190	4275	6465	SO:0001819	synonymous_variant	1636	exon25			AGAAGGGCCCCTC	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.3705G>T	17.37:g.61574511G>T			31	0	0		23	0.13	3	NM_000789	207	0	0	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	CCDS11637.1																																																																																					0.721	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337675.2				T	61574511	G	T	61574511	2	4	106	1	0	0	0	0	0	0	0	1	136	1190	42	2		2	ACE	17	61574511	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	1640055	61574511	19620699	75	7932											
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	76471541	76471541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgagccacggcgtccTcaaacagcacctgcagaaac	13	5	10	13	2	1	3	1	1	0	2	2	3	2	3	3	1	5	2	3	1	2	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:76471541T>C	ENST00000585328.1	-	54	8439	c.8315A>G	c.(8314-8316)gAg>gGg	p.E2772G	DNAH17_ENST00000389840.5_Missense_Mutation_p.E2763G|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2763	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)			CACGGCGTCCTCAAACAGCAC	0.592																																					p.E2777G													.	.			0			c.A8330G												47	49	48					17																	76471541		2107	4235	6342	SO:0001583	missense	8632	exon54			GCGTCCTCAAACA	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.8315A>G	17.37:g.76471541T>C	ENSP00000465516:p.Glu2772Gly		42	0	0		78	0.09	7	NM_173628	0		0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	10.48	1.363265	0.24684	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.47177	0.85	4.72	4.72	0.59763	.	.	.	.	.	T	0.63674	0.2531	M	0.78801	2.425	0.38794	D	0.95504	.	.	.	.	.	.	T	0.71045	-0.4706	7	0.72032	D	0.01	.	12.7775	0.57457	0.0:0.0:0.0:1.0	.	.	.	.	G	2772;2763	ENSP00000374490:E2763G	ENSP00000300671:E2772G	E	-	2	0	DNAH17	73983136	1.000000	0.71417	0.637000	0.29366	0.222000	0.24845	4.861000	0.62969	1.771000	0.52183	0.397000	0.26171	GAG			0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000318962.2		NM_173628		C	76471541	T	C	76471541	3	2	106	1	0	0	0	0	1	0	0	0	4606	1551	54	4	5170	4	DNAH17	17	76471541	Missense_Mutation	SNP	T	TCGA-WZ-A7V5-01A-11D-A435-10	14897030	76471541	4723669	76	7933											
LRRC45	201255	mdanderson.org	37	chr17	79981644	79981644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctggccacgcaaagccTgacggtggagacctgcaggg	9	4	16	12	2	0	2	0	1	0	1	0	4	0	3	4	5	2	2	4	5	1	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr17:79981644T>C	ENST00000306688.3	+	1	467	c.125T>C	c.(124-126)cTg>cCg	p.L42P	STRA13_ENST00000580435.1_5'Flank|STRA13_ENST00000392359.3_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000583767.1_5'Flank|STRA13_ENST00000584347.1_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	42						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	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)			ACGCAAAGCCTGACGGTGGAG	0.692																																					p.L42P													.	.			0			c.T125C												17	13	14					17																	79981644		2147	4246	6393	SO:0001583	missense	201255	exon1			AAAGCCTGACGGT	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.125T>C	17.37:g.79981644T>C	ENSP00000306760:p.Leu42Pro		24	0	0		16	0.13	2	NM_144999	52	0	0		Missense_Mutation	SNP	ENST00000306688.3	37	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	T	31	5.097852	0.94197	.	.	ENSG00000169683	ENST00000306688	T	0.61392	0.11	5.07	5.07	0.68467	.	0.152271	0.43747	D	0.000534	T	0.80460	0.4627	M	0.92691	3.335	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.85713	0.1320	9	.	.	.	-17.1415	15.0853	0.72148	0.0:0.0:0.0:1.0	.	42	Q96CN5	LRC45_HUMAN	P	42	ENSP00000306760:L42P	.	L	+	2	0	LRRC45	77574933	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.272000	0.78516	2.026000	0.59711	0.379000	0.24179	CTG			0.692	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442058.1		NM_144999		C	79981644	T	C	79981644	3	2	106	1	0	0	0	0	1	0	0	0	9018	1580	55	4	127	4	LRRC45	17	79981644	Missense_Mutation	SNP	T	TCGA-WZ-A7V5-01A-11D-A435-10	3510103	79981644	1213566	77	7934											
BSG	682	mdanderson.org	37	chr19	571563	571563	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatgaagcagtcggacGcgtctccccaagaaaggtaa	14	5	10	12	3	1	2	0	1	1	1	3	3	1	3	3	2	1	2	3	2	5	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:571563G>T	ENST00000333511.3	+	0	0				AC009005.2_ENST00000588290.1_RNA|BSG_ENST00000346916.4_Missense_Mutation_p.A6S|AC009005.2_ENST00000590292.1_RNA|AC009005.2_ENST00000588908.1_RNA|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000353555.4_5'Flank|AC009005.2_ENST00000589457.1_RNA	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)						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)		gcagtcggacgcgtctcccca	0.607																																					p.A6S													.	.			0			c.G16T												34	35	35					19																	571563		2197	4290	6487	SO:0001631	upstream_gene_variant	682	exon1			TCGGACGCGTCTC	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			19.37:g.571563G>T	Exception_encountered		34	0	0		35	0.09	3	NM_198591	10	0	0	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.488755	0.01018	.	.	ENSG00000172270	ENST00000346916	T	0.15256	2.44	0.158	-0.317	0.12736	.	.	.	.	.	T	0.05640	0.0148	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	7	0.06891	T	0.86	.	.	.	.	.	6	A6NJW1	.	S	6	ENSP00000344707:A6S	ENSP00000344707:A6S	A	+	1	0	BSG	522563	0.008000	0.16893	0.007000	0.13788	0.007000	0.05969	-0.884000	0.04166	-1.055000	0.03209	-1.054000	0.02325	GCG			0.607	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438630.2		NM_001728		T	571563	G	T	571563	1	4	106	0	1	0	0	0	0	0	0	0	1531	1087	38	1		1	BSG	19	571563	5'Flank	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10		571563	58557420	78	7935											
BSG	682	mdanderson.org	37	chr19	577807	577807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccgctgtcccagcagaGgtgggtggggggcagtgtgg	4	6	22	9	2	0	1	0	0	0	1	1	1	1	1	2	7	1	3	2	7	0	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:577807G>T	ENST00000333511.3	+	2	171	c.101G>T	c.(100-102)aGg>aTg	p.R34M	BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	34					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)		TCCCAGCAGAGGTGGGTGGGG	0.687																																					p.R34M													.	.			0			c.G101T												9	9	9					19																	577807		2140	4188	6328	SO:0001583	missense	682	exon2			AGCAGAGGTGGGT	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.101G>T	19.37:g.577807G>T	ENSP00000333769:p.Arg34Met		22	0	0		42	0.07	3	NM_001728	3	0	0	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110808	0.56398	.	.	ENSG00000172270	ENST00000333511	T	0.66460	-0.21	3.34	-0.619	0.11572	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.441905	0.21868	U	0.067931	T	0.66645	0.2810	M	0.61703	1.905	0.22156	N	0.999329	D	0.59767	0.986	P	0.54372	0.75	T	0.57452	-0.7809	10	0.54805	T	0.06	-3.8827	5.8295	0.18572	0.2154:0.1619:0.6227:0.0	.	34	P35613	BASI_HUMAN	M	34	ENSP00000333769:R34M	ENSP00000333769:R34M	R	+	2	0	BSG	528807	0.986000	0.35501	0.002000	0.10522	0.183000	0.23260	1.100000	0.31025	0.458000	0.26988	0.455000	0.32223	AGG			0.687	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438630.2		NM_001728		T	577807	G	T	577807	3	4	106	1	0	0	0	0	1	0	0	0	1531	1000	35	3	143	3	BSG	19	577807	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	6244	577807	58551176	79	7936											
ABCA7	10347	hgsc.bcm.edu	37	chr19	1047523	1047523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggagcagggcgagggCgcgcagtggcacaacgtggg	8	3	21	9	4	0	0	0	0	0	0	0	3	0	2	0	6	2	3	0	6	1	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:1047523C>T	ENST00000263094.6	+	16	2370	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	ABCA7_ENST00000433129.1_Silent_p.G713G|ABCA7_ENST00000435683.2_Silent_p.G575G|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	713					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCGAGGGCGCGCAGTGGC	0.706																																					p.G713G													ABCA7,rectum,carcinoma,0,1	ABCA7	0	1	0			c.C2139T												15	19	18					19																	1047523		2190	4287	6477	SO:0001819	synonymous_variant	10347	exon16			CGAGGGCGCGCAG	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2139C>T	19.37:g.1047523C>T			11	0.1818181818	2		17	0.24	4	NM_019112	4	0.75	3	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																					0.706	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000394993.1		NM_019112		T	1047523	C	T	1047523	2	4	106	1	0	0	0	0	0	0	0	1	37	755	27	1		1	ABCA7	19	1047523	Silent	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	469716	1047523	58081460	80	7937											
ZNF844	284391	mdanderson.org	37	chr19	12187930	12187930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacataaaagggctcacactGgagtgaaaccgtatgaatgc	15	7	11	8	1	1	2	1	2	0	0	1	4	1	3	1	2	2	2	1	2	5	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:12187930G>T	ENST00000439326.3	+	4	2170	c.1995G>T	c.(1993-1995)ctG>ctT	p.L665L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GGCTCACACTGGAGTGAAACC	0.428																																					p.L665L													.	.			0			c.G1995T												41	44	43					19																	12187930		692	1591	2283	SO:0001819	synonymous_variant	284391	exon4			CACACTGGAGTGA	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1995G>T	19.37:g.12187930G>T			59	0	0		37	0.08	3	NM_001136501	17	0	0	Q5JPI8	Silent	SNP	ENST00000439326.3	37	CCDS45985.1																																																																																					0.428	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344086.2				T	12187930	G	T	12187930	2	4	106	1	0	0	0	0	0	0	0	1	18213	1335	47	3		3	ZNF844	19	12187930	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	11140407	12187930	46941053	81	7938											
NACC1	112939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	13249085	13249085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggtcaaggtgctcaaGgctgaggatgacgcctacac	11	6	12	12	1	2	2	2	2	0	0	2	3	2	3	2	4	2	2	2	4	4	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:13249085G>C	ENST00000292431.4	+	6	1575	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	483					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						AGGTGCTCAAGGCTGAGGATG	0.607																																					p.K483N													.	.			0			c.G1449C												199	159	172					19																	13249085		2203	4300	6503	SO:0001583	missense	112939	exon6			GCTCAAGGCTGAG	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1449G>C	19.37:g.13249085G>C	ENSP00000292431:p.Lys483Asn		74	0	0		74	0.22	16	NM_052876	150	0.3	45		Missense_Mutation	SNP	ENST00000292431.4	37	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709084	0.48517	.	.	ENSG00000160877	ENST00000292431	T	0.52754	0.65	4.41	4.41	0.53225	.	0.407124	0.26875	N	0.022047	T	0.29914	0.0748	N	0.08118	0	0.28203	N	0.927279	B	0.13145	0.007	B	0.06405	0.002	T	0.33599	-0.9862	10	0.87932	D	0	.	14.5401	0.67987	0.0:0.0:1.0:0.0	.	483	Q96RE7	NACC1_HUMAN	N	483	ENSP00000292431:K483N	ENSP00000292431:K483N	K	+	3	2	NACC1	13110085	1.000000	0.71417	0.038000	0.18304	0.868000	0.49771	4.232000	0.58645	2.011000	0.59026	0.555000	0.69702	AAG			0.607	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452879.1		NM_052876		C	13249085	G	C	13249085	3	2	106	1	0	0	0	0	1	0	0	0	10151	991	35	5	1467	5	NACC1	19	13249085	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	1061155	13249085	45879898	82	7939											
CD97	976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	14517723	14517723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaccgtctggaagctcactCagaagttttctgaaatcaat	12	12	7	10	1	5	2	3	1	2	1	5	3	5	3	1	1	2	2	1	1	5	3			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:14517723C>G	ENST00000242786.5	+	17	2238	c.2158C>G	c.(2158-2160)Cag>Gag	p.Q720E	DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000357355.3_Missense_Mutation_p.Q671E|CD97_ENST00000358600.3_Missense_Mutation_p.Q627E|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	720					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAAGCTCACTCAGAAGTTTTC	0.557											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q720E													.	.			0			c.C2158G												174	188	183					19																	14517723		2203	4300	6503	SO:0001583	missense	976	exon17			CTCACTCAGAAGT		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2158C>G	19.37:g.14517723C>G	ENSP00000242786:p.Gln720Glu		81	0	0	695	99	0.18	18	NM_078481	61	0.08	5	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616887	0.46736	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.44881	0.91;0.91;0.91	5.09	2.86	0.33363	GPCR, family 2-like (1);	1.722310	0.03792	N	0.263065	T	0.46288	0.1385	L	0.55213	1.73	0.21220	N	0.999756	P;P;B	0.50819	0.749;0.939;0.07	B;P;B	0.46659	0.441;0.523;0.073	T	0.22977	-1.0201	10	0.38643	T	0.18	.	7.7288	0.28775	0.3424:0.5022:0.1554:0.0	.	627;671;720	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	E	720;671;627;670	ENSP00000242786:Q720E;ENSP00000349918:Q671E;ENSP00000351413:Q627E	ENSP00000242786:Q720E	Q	+	1	0	CD97	14378723	0.022000	0.18835	0.372000	0.25991	0.982000	0.71751	0.170000	0.16663	0.466000	0.27193	0.655000	0.94253	CAG			0.557	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459821.2		NM_078481		G	14517723	C	G	14517723	3	3	106	1	0	0	0	0	1	0	0	0	3051	827	29	5	2224	5	CD97	19	14517723	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	1268638	14517723	44611260	83	7940											
NOTCH3	4854	broad.mit.edu;mdanderson.org	37	chr19	15276316	15276316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagtctgtagagcggtttCggatgagaatctaggacaga	12	9	13	7	2	2	3	0	1	2	3	3	6	2	5	1	3	1	2	1	3	4	3	rs372834264		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:15276316C>T	ENST00000263388.2	-	31	5753	c.5678G>A	c.(5677-5679)cGa>cAa	p.R1893Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1893					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)			AGAGCGGTTTCGGATGAGAAT	0.592																																					p.R1893Q													.	NOTCH3	340		0			c.G5678A							C	GLN/ARG	0,4406		0,0,2203	53	52	52		5678	4.9	1	19		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOTCH3	NM_000435.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1893/2322	15276316	1,13005	2203	4300	6503	SO:0001583	missense	4854	exon31			CGGTTTCGGATGA	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.5678G>A	19.37:g.15276316C>T	ENSP00000263388:p.Arg1893Gln		20	0	0		23	0.13	3	NM_000435	47	0.09	4	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470380	0.84533	0.0	1.16E-4	ENSG00000074181	ENST00000263388	T	0.63744	-0.06	4.9	4.9	0.64082	Ankyrin repeat-containing domain (4);	0.000000	0.30201	N	0.010173	T	0.67040	0.2851	N	0.17594	0.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.71777	-0.4490	10	0.59425	D	0.04	.	17.02	0.86431	0.0:1.0:0.0:0.0	.	1893	Q9UM47	NOTC3_HUMAN	Q	1893	ENSP00000263388:R1893Q	ENSP00000263388:R1893Q	R	-	2	0	NOTCH3	15137316	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	7.176000	0.77643	2.560000	0.86352	0.561000	0.74099	CGA			0.592	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465714.1		NM_000435		T	15276316	C	T	15276316	3	4	106	1	0	0	0	0	1	0	0	0	10567	884	31	1	1299	1	NOTCH3	19	15276316	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	758593	15276316	43852667	84	7941											
WDR88	126248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	33647335	33647335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtacaagctcctgggataAaaacttaaaaatatggaacg	17	9	9	6	1	0	0	0	0	0	0	1	2	1	2	1	2	4	2	1	2	10	4			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:33647335A>G	ENST00000355868.3	+	7	960	c.884A>G	c.(883-885)aAa>aGa	p.K295R	WDR88_ENST00000361680.2_Missense_Mutation_p.K295R	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	295										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)					TCCTGGGATAAAAACTTAAAA	0.478																																					p.K295R													.	.			0			c.A884G												112	108	109					19																	33647335		2203	4300	6503	SO:0001583	missense	126248	exon7			GGGATAAAAACTT	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.884A>G	19.37:g.33647335A>G	ENSP00000348129:p.Lys295Arg		74	0	0		77	0.17	13	NM_173479	0		0	Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.643561	0.47258	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.39592	1.07;1.07	5.59	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.551163	0.18117	N	0.151178	T	0.33147	0.0853	L	0.35542	1.07	0.29219	N	0.874029	P	0.34757	0.467	B	0.36719	0.231	T	0.17745	-1.0359	10	0.31617	T	0.26	.	10.7729	0.46334	0.9241:0.0:0.0759:0.0	.	295	Q6ZMY6	WDR88_HUMAN	R	295	ENSP00000348129:K295R;ENSP00000355148:K295R	ENSP00000348129:K295R	K	+	2	0	WDR88	38339175	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.697000	0.37784	0.916000	0.36871	0.454000	0.30748	AAA			0.478	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450840.1		NM_173479		G	33647335	A	G	33647335	3	3	106	1	0	0	0	0	1	0	0	0	17359	14	1	4	910	4	WDR88	19	33647335	Missense_Mutation	SNP	A	TCGA-WZ-A7V5-01A-11D-A435-10	18371019	33647335	25481648	85	7942											
ZFP30	22835	broad.mit.edu;mdanderson.org	37	chr19	38125922	38125922	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggtaagtaagatgtGaatgttgtctaaatgccttt	11	15	11	4	0	1	3	0	2	1	1	1	3	1	3	1	1	1	4	1	1	5	5			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:38125922G>T	ENST00000351218.2	-	6	2077	c.1520C>A	c.(1519-1521)tCa>tAa	p.S507*	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Nonsense_Mutation_p.S507*|ZFP30_ENST00000514101.2_Nonsense_Mutation_p.S507*	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	507					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTAAGATGTGAATGTTGTCT	0.328																																					p.S507X													.	ZFP30	68		0			c.C1520A												72	68	69					19																	38125922		2203	4300	6503	SO:0001587	stop_gained	22835	exon6			AGATGTGAATGTT	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1520C>A	19.37:g.38125922G>T	ENSP00000343581:p.Ser507*		78	0	0		108	0.05	5	NM_014898	38	0	0	Q58EY8	Nonsense_Mutation	SNP	ENST00000351218.2	37	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	G	39	7.380156	0.98248	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	.	.	.	4.05	4.05	0.47172	.	0.000000	0.29745	N	0.011309	.	.	.	.	.	.	0.58432	A	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0653	0.64824	0.0:0.0:1.0:0.0	.	.	.	.	X	507;507;507;422	.	ENSP00000343581:S507X	S	-	2	0	ZFP30	42817762	0.193000	0.23313	1.000000	0.80357	0.988000	0.76386	2.109000	0.41863	2.249000	0.74217	0.585000	0.79938	TCA			0.328	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109601.2		NM_014898		T	38125922	G	T	38125922	4	4	106	1	0	0	0	0	0	1	0	0	17667	1294	45	3	43	3	ZFP30	19	38125922	Nonsense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	4478587	38125922	21003061	86	7943											
MEGF8	1954	mdanderson.org	37	chr19	42853771	42853771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtatgcagtagagatccagGgccagctcaatggctcggca	11	7	13	10	1	1	1	1	0	0	1	3	2	2	1	2	3	2	6	2	3	3	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:42853771G>T	ENST00000251268.6	+	14	2419	c.2419G>T	c.(2419-2421)Ggc>Tgc	p.G807C	MEGF8_ENST00000334370.4_Missense_Mutation_p.G740C	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	807					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)				AGAGATCCAGGGCCAGCTCAA	0.652																																					p.G807C													MEGF8_ENST00000334370,NS,carcinoma,-1,9	MEGF8_ENST00000334370	-1	9	0			c.G2419T												61	63	62					19																	42853771		2203	4300	6503	SO:0001583	missense	1954	exon14			ATCCAGGGCCAGC	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.2419G>T	19.37:g.42853771G>T	ENSP00000251268:p.Gly807Cys		32	0	0		32	0.09	3	NM_001271938	4	0	0	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	19.87	3.906620	0.72868	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.22539	1.95;2.0	4.54	3.5	0.40072	.	0.077051	0.49916	D	0.000122	T	0.27594	0.0678	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.956;0.964	T	0.01349	-1.1378	10	0.38643	T	0.18	.	9.5764	0.39461	0.1048:0.0:0.8952:0.0	.	807;740	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	C	740;807	ENSP00000334219:G740C;ENSP00000251268:G807C	ENSP00000251268:G807C	G	+	1	0	MEGF8	47545611	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.179000	0.71974	2.084000	0.62774	0.491000	0.48974	GGC			0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000463854.1		NM_001410		T	42853771	G	T	42853771	3	4	106	1	0	0	0	0	1	0	0	0	9479	1232	43	3	2268	3	MEGF8	19	42853771	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	4727849	42853771	16275212	87	7944											
HRC	3270	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49658348	49658348	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgatgcctcctcggaGagcccggcgactccagtgct	5	9	12	15	3	1	2	0	1	1	1	4	4	3	2	4	2	4	2	4	2	0	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr19:49658348G>T	ENST00000252825.4	-	1	333	c.147C>A	c.(145-147)ctC>ctA	p.L49L	TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|HRC_ENST00000595625.1_Silent_p.L49L|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	49					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCTCCTCGGAGAGCCCGGCGA	0.602																																					p.L49L	Melanoma(37;75 1097 24567 25669 30645)												.	.			0			c.C147A												146	131	136					19																	49658348		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			CTCGGAGAGCCCG		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.147C>A	19.37:g.49658348G>T			64	0	0		67	0.15	10	NM_002152	1	0	0	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																					0.602	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465649.1		NM_002152		T	49658348	G	T	49658348	2	4	106	1	0	0	0	0	0	0	0	1	7367	929	33	3		3	HRC	19	49658348	Silent	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	6804577	49658348	9470635	88	7945											
MCM8	84515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	5935892	5935892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcatgggtttggcaataCatcaggtaactatttgtctt	9	16	9	7	0	2	0	1	0	1	0	2	0	2	0	0	3	3	4	0	3	4	7			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr20:5935892C>T	ENST00000378896.3	+	5	858	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	MCM8_ENST00000378886.2_Missense_Mutation_p.H161Y|MCM8_ENST00000378883.1_Missense_Mutation_p.H161Y|MCM8_ENST00000265187.4_Missense_Mutation_p.H161Y	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	161					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						TTTGGCAATACATCAGGTAAC	0.368																																					p.H161Y													.	.			0			c.C481T												174	162	166					20																	5935892		2203	4300	6503	SO:0001583	missense	84515	exon5			GCAATACATCAGG	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.481C>T	20.37:g.5935892C>T	ENSP00000368174:p.His161Tyr		129	0	0		109	0.15	16	NM_032485	40	0.23	9	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674402	0.47781	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.76	5.76	0.90799	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	L	0.58925	1.835	0.80722	D	1	P;B;B;B	0.37636	0.603;0.188;0.285;0.33	B;B;B;B	0.38842	0.283;0.062;0.132;0.084	T	0.04454	-1.0950	10	0.05351	T	0.99	-18.5568	20.3431	0.98773	0.0:1.0:0.0:0.0	.	161;161;161;161	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Y	161	ENSP00000368174:H161Y;ENSP00000368161:H161Y;ENSP00000368164:H161Y;ENSP00000265187:H161Y	ENSP00000265187:H161Y	H	+	1	0	MCM8	5883892	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.515000	0.73751	2.880000	0.98712	0.650000	0.86243	CAT			0.368	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000077900.1		NM_032485		T	5935892	C	T	5935892	3	4	106	1	0	0	0	0	1	0	0	0	9409	478	17	3	495	3	MCM8	20	5935892	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10		5935892	57089628	89	7946											
RRBP1	6238	mdanderson.org	37	chr20	17596600	17596600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggccgtgagcttctgccGctgtgtctgctcatcctcca	3	12	10	16	3	3	1	1	1	2	0	6	1	5	1	4	1	3	3	4	1	0	1	rs372710056		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr20:17596600G>A	ENST00000377813.1	-	22	4225	c.3922C>T	c.(3922-3924)Cgg>Tgg	p.R1308W	RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000377807.2_Missense_Mutation_p.R875W|RRBP1_ENST00000246043.4_Missense_Mutation_p.R1308W|RRBP1_ENST00000360807.4_Missense_Mutation_p.R875W|RRBP1_ENST00000455029.2_Missense_Mutation_p.R649W			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1308					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGCTTCTGCCGCTGTGTCTGC	0.627																																					p.R875W													.	.			0			c.C2623T							G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	74	58	64		2623,2623	-0.3	0.1	20		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RRBP1	NM_001042576.1,NM_004587.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	875/978,875/978	17596600	1,13005	2203	4300	6503	SO:0001583	missense	6238	exon23			TCTGCCGCTGTGT	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3922C>T	20.37:g.17596600G>A	ENSP00000367044:p.Arg1308Trp		26	0	0		40	0.08	3	NM_001042576	280	0	1	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	G	14.84	2.654809	0.47467	0.0	1.16E-4	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.38	-0.273	0.12915	.	0.000000	0.31989	N	0.006742	T	0.51890	0.1701	M	0.67953	2.075	0.39878	D	0.973607	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.51020	-0.8758	10	0.72032	D	0.01	-36.5779	9.5331	0.39207	0.0692:0.0:0.3317:0.5991	.	875;1308	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	W	875;1308;875;1308;649	ENSP00000354045:R875W;ENSP00000367044:R1308W;ENSP00000367038:R875W;ENSP00000246043:R1308W;ENSP00000401206:R649W	ENSP00000246043:R1308W	R	-	1	2	RRBP1	17544600	0.917000	0.31117	0.149000	0.22428	0.442000	0.32017	0.868000	0.27982	-0.266000	0.09339	-0.310000	0.09108	CGG			0.627	RRBP1-002	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000078125.1		NM_001042576		A	17596600	G	A	17596600	3	1	106	1	0	0	0	0	1	0	0	0	13701	1086	38	1	326	1	RRBP1	20	17596600	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	11660708	17596600	45428920	90	7947											
ZNF217	7764	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	52198674	52198675	+	Frame_Shift_Del	DEL	AG	AG	-																															gcaccttgcggtgctcaattAgactttctttatttggaaat																										TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr20:52198674_52198675delAG	ENST00000371471.2	-	2	1116_1117	c.691_692delCT	c.(691-693)ctafs	p.L231fs	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Frame_Shift_Del_p.L231fs			O75362	ZN217_HUMAN	zinc finger protein 217	231					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTGCTCAATTAGACTTTCTTTA	0.52																																					p.231_231del													.	ZNF217	227		0			c.692_693del																																									SO:0001589	frameshift_variant	7764	exon1			TCAATTAGACTTT	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.691_692delCT	20.37:g.52198674_52198675delAG	ENSP00000360526:p.Leu231fs		88	0	0		102	0.1	10	NM_006526	91	0	0	E1P5Y6|Q14DB8	Frame_Shift_Del	DEL	ENST00000371471.2	37	CCDS13443.1																																																																																					0.52	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079757.2		NM_006526		-	52198675	AG	-	52198674	7	5	106	1	0	1	0	1	0	0	0	0	17795	420	15	0	2470	0	ZNF217	20	52198674	Frame_Shift_Del	DEL	AG	TCGA-WZ-A7V5-01A-11D-A435-10	34602074	52198674	10826846	91	7948											
LAMA5	3911	mdanderson.org	37	chr20	60890262	60890262	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcttcttgcttgtctcGtctgtggtgggcagagggca	4	13	15	9	2	4	1	0	0	4	1	5	2	4	1	0	3	1	3	0	3	0	3	rs201926183		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr20:60890262G>T	ENST00000252999.3	-	59	7935	c.7869C>A	c.(7867-7869)gaC>gaA	p.D2623E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2623	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			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)			TGCTTGTCTCGTCTGTGGTGG	0.617																																					p.D2623E													.	.			0			c.C7869A												33	33	33					20																	60890262		2197	4288	6485	SO:0001630	splice_region_variant	3911	exon59			TGTCTCGTCTGTG	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.7868-1C>A	20.37:g.60890262G>T			46	0	0		40	0.08	3	NM_005560	121	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	9.813	1.183574	0.21870	.	.	ENSG00000130702	ENST00000252999	T	0.18657	2.2	4.02	-2.71	0.05986	.	0.619195	0.16448	U	0.214007	T	0.12390	0.0301	L	0.59436	1.845	0.22185	N	0.999305	P	0.43024	0.798	B	0.26202	0.067	T	0.14254	-1.0479	10	0.45353	T	0.12	.	6.7608	0.23540	0.6613:0.1507:0.188:0.0	.	2623	O15230	LAMA5_HUMAN	E	2623	ENSP00000252999:D2623E	ENSP00000252999:D2623E	D	-	3	2	LAMA5	60323657	0.000000	0.05858	0.515000	0.27774	0.507000	0.33981	-1.726000	0.01861	-0.370000	0.08016	0.457000	0.33378	GAC			0.617	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560	Missense_Mutation	T	60890262	G	T	60890262	5	4	106	1	0	0	0	0	0	0	1	0	8624	1159	40	1	3306	1	LAMA5	20	60890262	Splice_Site	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	8691588	60890262	2135258	92	7949											
APP	351	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	27327999	27327999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgcacatgctcgaaatgcTttagggtgtgctgtctgtcc	6	13	12	10	2	1	0	0	0	1	0	3	1	2	0	1	1	4	4	1	1	2	2			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr21:27327999T>C	ENST00000346798.3	-	12	1562	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	APP_ENST00000359726.3_Missense_Mutation_p.K454R|APP_ENST00000440126.3_Missense_Mutation_p.K486R|APP_ENST00000439274.2_Missense_Mutation_p.K454R|APP_ENST00000348990.5_Missense_Mutation_p.K435R|APP_ENST00000358918.3_Missense_Mutation_p.K510R|APP_ENST00000357903.3_Missense_Mutation_p.K491R|APP_ENST00000448388.2_Missense_Mutation_p.K400R|APP_ENST00000354192.3_Missense_Mutation_p.K379R	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	510	Heparin-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTCGAAATGCTTTAGGGTGTG	0.488																																					p.K510R													.	.			0			c.A1529G												222	174	190					21																	27327999		2203	4300	6503	SO:0001583	missense	351	exon12			AAATGCTTTAGGG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1529A>G	21.37:g.27327999T>C	ENSP00000284981:p.Lys510Arg		141	0	0		171	0.05	8	NM_000484	354	0.08	27	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	T	6.691	0.496180	0.12762	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	T;T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.45	5.45	0.79879	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	N	0.03224	-0.385	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.997;0.994;0.974;0.996;0.968;0.968;0.972	D;D;D;P;D;D;P	0.69654	0.923;0.923;0.965;0.875;0.942;0.942;0.833	T	0.24261	-1.0165	10	0.02654	T	1	-37.3801	14.4813	0.67585	0.0:0.0:0.0:1.0	.	400;454;486;379;435;491;510	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	R	510;379;435;491;510;454;400;486;454;97	ENSP00000284981:K510R;ENSP00000346129:K379R;ENSP00000345463:K435R;ENSP00000350578:K491R;ENSP00000351796:K510R;ENSP00000352760:K454R;ENSP00000388538:K400R;ENSP00000387483:K486R;ENSP00000398879:K454R;ENSP00000397795:K97R	ENSP00000284981:K510R	K	-	2	0	APP	26249870	1.000000	0.71417	0.990000	0.47175	0.548000	0.35241	5.740000	0.68629	2.288000	0.76882	0.533000	0.62120	AAG			0.488	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000171340.1		NM_000484		C	27327999	T	C	27327999	3	2	106	1	0	0	0	0	1	0	0	0	815	1609	56	4	811	4	APP	21	27327999	Missense_Mutation	SNP	T	TCGA-WZ-A7V5-01A-11D-A435-10		27327999	20801896	93	7950											
ATP5O	539	ucsc.edu	37	chr21	35288044	35288044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctcacctgccgggagagCccggacactgctggggcagc	6	6	14	15	2	2	1	1	0	1	1	3	3	2	2	3	4	4	2	3	4	0	0	rs144779561	byFrequency	TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr21:35288044C>T	ENST00000290299.2	-	1	240	c.24G>A	c.(22-24)ggG>ggA	p.G8G	ATP5O_ENST00000496044.1_5'Flank|LINC00649_ENST00000610236.1_RNA|LINC00649_ENST00000597626.1_RNA|LINC00649_ENST00000598119.1_RNA|LINC00649_ENST00000596365.1_RNA	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	8					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						GCCGGGAGAGCCCGGACACTG	0.642																																					p.G8G													.	ATP5O	9		0			c.G24A												29	22	25					21																	35288044		2199	4292	6491	SO:0001819	synonymous_variant	539	exon1			GGAGAGCCCGGAC	AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	850	protein-coding gene	gene with protein product	"oligomycin sensitivity conferring protein"	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.24G>A	21.37:g.35288044C>T			30	0	0		41	0.1	4	NM_001697	696	0	1	B2R4E2|Q5U042|Q6IBI2	Silent	SNP	ENST00000290299.2	37	CCDS13634.1																																																																																					0.642	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000139907.1		NM_001697		T	35288044	C	T	35288044	2	4	106	1	0	0	0	0	0	0	0	1	1162	726	26	2		2	ATP5O	21	35288044	Silent	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	7960045	35288044	12841851	94	7951											
COL6A2	1292	mdanderson.org	37	chr21	47552285	47552285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacgacagtctgcacgagtCggcgcactccatgcgcaagc	10	5	11	15	5	1	0	0	0	1	0	3	2	2	0	1	1	4	3	1	1	2	0			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr21:47552285C>T	ENST00000300527.4	+	28	2983	c.2879C>T	c.(2878-2880)tCg>tTg	p.S960L		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	960	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)		CTGCACGAGTCGGCGCACTCC	0.687																																					p.S960L													.	.			0			c.C2879T												67	61	63					21																	47552285		2203	4300	6503	SO:0001583	missense	1292	exon28			ACGAGTCGGCGCA	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.2879C>T	21.37:g.47552285C>T	ENSP00000300527:p.Ser960Leu		30	0	0		32	0.09	3	NM_001849	298	0	0	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	7.951	0.744812	0.15710	.	.	ENSG00000142173	ENST00000300527	T	0.76968	-1.06	4.16	4.16	0.48862	von Willebrand factor, type A (3);	0.564741	0.16440	N	0.214321	T	0.69557	0.3124	L	0.36672	1.1	0.80722	D	1	B	0.33940	0.433	B	0.31869	0.137	T	0.68047	-0.5512	10	0.30854	T	0.27	-4.1229	16.468	0.84090	0.0:1.0:0.0:0.0	.	960	P12110	CO6A2_HUMAN	L	960	ENSP00000300527:S960L	ENSP00000300527:S960L	S	+	2	0	COL6A2	46376713	1.000000	0.71417	0.272000	0.24630	0.009000	0.06853	5.493000	0.66899	1.881000	0.54492	0.297000	0.19635	TCG			0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206971.1				T	47552285	C	T	47552285	3	4	106	1	0	0	0	0	1	0	0	0	3702	893	31	1	3315	1	COL6A2	21	47552285	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10	12264241	47552285	577610	95	7952											
CECR2	27443	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	18016810	18016810	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatcgagcgaagaggagaaAgctcagggaagaaagggcat	17	3	16	5	2	1	4	1	0	0	4	2	8	1	5	0	3	2	2	0	3	4	0	rs369723376		TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr22:18016810A>T	ENST00000400585.2	+	10	1076	c.638A>T	c.(637-639)aAg>aTg	p.K213M	CECR2_ENST00000342247.5_Missense_Mutation_p.K326M|CECR2_ENST00000400573.5_Missense_Mutation_p.K354M|CECR2_ENST00000262608.8_Missense_Mutation_p.K355M			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	396					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AAGAGGAGAAAGCTCAGGGAA	0.512																																					.													.	CECR2	233		0			.												69	74	72					22																	18016810		2000	4167	6167	SO:0001583	missense	27443	.			GGAGAAAGCTCAG	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.638A>T	22.37:g.18016810A>T	ENSP00000383428:p.Lys213Met		87	0.0114942529	1		102	0.16	16	.	51	0.29	15	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	A	18.98	3.737891	0.69304	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.30714	1.96;1.64;1.68;1.52	5.43	4.4	0.53042	.	0.119294	0.37483	N	0.002072	T	0.26085	0.0636	L	0.43152	1.355	0.48571	D	0.999673	P;P;P	0.45348	0.745;0.856;0.856	B;B;B	0.39971	0.315;0.315;0.315	T	0.02115	-1.1211	10	0.39692	T	0.17	-25.4719	11.3416	0.49535	0.9292:0.0:0.0708:0.0	.	396;213;354	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	M	326;213;354;355	ENSP00000341219:K326M;ENSP00000383428:K213M;ENSP00000383417:K354M;ENSP00000262608:K355M	ENSP00000262608:K355M	K	+	2	0	CECR2	16396810	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.559000	0.67326	1.076000	0.40961	0.533000	0.62120	AAG			0.512	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding		OTTHUMT00000316226.2		NM_031413		T	18016810	A	T	18016810	3	4	106	1	0	0	0	0	1	0	0	0	3208	72	3	5	1097	5	CECR2	22	18016810	Missense_Mutation	SNP	A	TCGA-WZ-A7V5-01A-11D-A435-10		18016810	33287756	96	7953											
MEI1	150365	mdanderson.org	37	chr22	42128256	42128256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctgtggtagggatcgaGgcagtggtgaggagcctgca	8	8	17	8	1	0	1	0	1	0	0	2	4	1	3	2	5	2	3	2	5	1	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chr22:42128256G>T	ENST00000401548.3	+	10	1144	c.1104G>T	c.(1102-1104)gaG>gaT	p.E368D	MEI1_ENST00000540833.1_Missense_Mutation_p.E108D|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TAGGGATCGAGGCAGTGGTGA	0.562																																					p.E368D													.	.			0			c.G1104T												49	54	52					22																	42128256		2080	4214	6294	SO:0001583	missense	150365	exon10			GATCGAGGCAGTG	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1104G>T	22.37:g.42128256G>T	ENSP00000384115:p.Glu368Asp		54	0	0		42	0.07	3	NM_152513	0		0		Missense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761794	0.49468	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.16743	2.32;2.32	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.060578	0.64402	D	0.000005	T	0.34803	0.0910	M	0.61703	1.905	0.80722	D	1	P;D	0.89917	0.607;1.0	B;D	0.83275	0.3;0.996	T	0.02352	-1.1172	10	0.31617	T	0.26	-7.3322	9.3146	0.37926	0.1256:0.0:0.8744:0.0	.	368;368	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	D	368;108	ENSP00000384115:E368D;ENSP00000444225:E108D	ENSP00000384115:E368D	E	+	3	2	MEI1	40458202	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.109000	0.50345	2.716000	0.92895	0.563000	0.77884	GAG			0.562	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000074937.3		NM_152513		T	42128256	G	T	42128256	3	4	106	1	0	0	0	0	1	0	0	0	9481	991	35	3	1142	3	MEI1	22	42128256	Missense_Mutation	SNP	G	TCGA-WZ-A7V5-01A-11D-A435-10	24111446	42128256	9176310	97	7954											
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	54265469	54265469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagatgaatggctccacCgcttgacacagcagcaggat	11	7	11	12	1	0	3	0	2	0	1	1	4	1	4	2	2	3	5	2	2	1	1			TCGA-WZ-A7V5-01A-11D-A435-10	TCGA-WZ-A7V5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	37a3292a-c941-4ab7-b62d-fdde242a0b26	69293349-62fd-45e6-9658-5177162c214f	g.chrX:54265469C>T	ENST00000375159.2	-	17	3714	c.3715G>A	c.(3715-3717)Ggt>Agt	p.G1239S	WNK3_ENST00000354646.2_Missense_Mutation_p.G1239S|WNK3_ENST00000375169.3_Missense_Mutation_p.G1239S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1239					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATGGCTCCACCGCTTGACACA	0.448																																					p.G1239S													.	.			0			c.G3715A												63	59	60					X																	54265469		2203	4300	6503	SO:0001583	missense	65267	exon18			CTCCACCGCTTGA	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3715G>A	X.37:g.54265469C>T	ENSP00000364301:p.Gly1239Ser		46	0	0		73	0.25	18	NM_001002838	19	0.42	8	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486242	0.44147	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72167	-0.44;-0.63;-0.63	5.02	3.2	0.36748	.	0.584613	0.15074	N	0.282037	T	0.65491	0.2696	L	0.27053	0.805	0.19300	N	0.999975	D;D	0.76494	0.999;0.995	P;P	0.58454	0.839;0.492	T	0.53648	-0.8409	10	0.08837	T	0.75	0.202	8.816	0.34996	0.0:0.7647:0.1477:0.0875	.	1239;1239	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	S	1239	ENSP00000364312:G1239S;ENSP00000346667:G1239S;ENSP00000364301:G1239S	ENSP00000346667:G1239S	G	-	1	0	WNK3	54282194	0.002000	0.14202	0.507000	0.27676	0.736000	0.42039	0.569000	0.23638	0.342000	0.23796	0.538000	0.68166	GGT			0.448	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056799.2		NM_020922		T	54265469	C	T	54265469	3	4	106	1	0	0	0	0	1	0	0	0	17403	652	23	1	1715	1	WNK3	23	54265469	Missense_Mutation	SNP	C	TCGA-WZ-A7V5-01A-11D-A435-10		54265469	101005091	98	7955											
AGRN	375790	broad.mit.edu	37	chr1	955613	955613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgctccttgtggtggccGcgtgcgtcctgcccggagcc	1	9	15	16	5	0	0	0	0	0	0	2	1	2	1	6	3	4	1	6	3	0	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr1:955613G>T	ENST00000379370.2	+	1	111	c.61G>T	c.(61-63)Gcg>Tcg	p.A21S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	21					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGTGGTGGCCGCGTGCGTCCT	0.791																																					p.A21S													.	AGRN	110		0			c.G61T																																									SO:0001583	missense	375790	exon1			GTGGCCGCGTGCG	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.61G>T	1.37:g.955613G>T	ENSP00000368678:p.Ala21Ser		12	0	0		5	0.4	2	NM_198576	0		0	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	9.838	1.190187	0.21954	.	.	ENSG00000188157	ENST00000379370	T	0.76968	-1.06	2.05	1.1	0.20463	.	0.772224	0.09278	U	0.824163	T	0.62575	0.2439	L	0.43152	1.355	0.09310	N	1	B	0.32160	0.358	B	0.23852	0.049	T	0.42632	-0.9440	10	0.07990	T	0.79	.	7.5176	0.27610	0.1456:0.0:0.8544:0.0	.	21	O00468	AGRIN_HUMAN	S	21	ENSP00000368678:A21S	ENSP00000368678:A21S	A	+	1	0	AGRN	945476	0.000000	0.05858	0.032000	0.17829	0.036000	0.12997	0.631000	0.24568	0.215000	0.20761	-0.383000	0.06682	GCG			0.791	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097990.2		NM_198576		T	955613	G	T	955613	3	4	107	1	0	0	0	0	1	0	0	0	397	1087	38	1	63	1	AGRN	1	955613	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		955613	248295008	1	7956											
GPN2	63906	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	27216507	27216507	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggaactcactcatgccCaggcagtacgtggtcttccc	8	8	10	15	2	3	0	2	0	1	0	4	1	4	1	2	3	3	3	2	3	2	2			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr1:27216507C>T	ENST00000361720.5	-	0	2123				GPN2_ENST00000374135.4_Silent_p.L27L|GPN2_ENST00000461282.1_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CACTCATGCCCAGGCAGTACG	0.741																																					p.L27L													GPN2,NS,carcinoma,-2,1	GPN2	18	1	0			c.G81A												13	16	15					1																	27216507		2185	4282	6467	SO:0001628	intergenic_variant	54707	exon1			CATGCCCAGGCAG	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27216507C>T			21	0	0		20	0.25	5	NM_018066	16	0.19	3	Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	CCDS290.1																																																																																					0.741	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012181.1		NM_022078		T	27216507	C	T	27216507	1	4	107	0	1	0	0	0	0	0	0	0	6632	581	21	3		3	GPN2	1	27216507	IGR	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	26260894	27216507	222034114	2	7957											
FCRL2	79368	mdanderson.org	37	chr1	157716685	157716685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagaagtgtcctgatGtttgctgttaaggaaaaagt	11	14	10	6	0	1	2	0	1	1	1	3	3	2	3	2	1	1	3	2	1	4	3			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr1:157716685G>T	ENST00000361516.3	-	11	1512	c.1464C>A	c.(1462-1464)aaC>aaA	p.N488K	FCRL2_ENST00000368181.4_Missense_Mutation_p.N182K|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	488					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)			GTGTCCTGATGTTTGCTGTTA	0.408																																					p.N488K													.	.			0			c.C1464A												154	163	160					1																	157716685		2203	4300	6503	SO:0001583	missense	79368	exon11			CCTGATGTTTGCT	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.1464C>A	1.37:g.157716685G>T	ENSP00000355157:p.Asn488Lys		22	0	0		22	0.09	2	NM_030764	12	0	0	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325588	0.41197	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181	T;T	0.21191	2.02;3.32	3.44	1.52	0.23074	.	1.648920	0.04100	U	0.312667	T	0.25791	0.0628	M	0.62723	1.935	0.34914	D	0.747786	D;B;P	0.71674	0.998;0.2;0.936	D;B;P	0.66351	0.943;0.036;0.725	T	0.15321	-1.0441	10	0.66056	D	0.02	.	4.9872	0.14196	0.2819:0.0:0.7181:0.0	.	182;488;235	Q96LA5-5;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	K	182;488;182	ENSP00000355157:N488K;ENSP00000357163:N182K	ENSP00000292389:N182K	N	-	3	2	FCRL2	155983309	0.250000	0.23951	0.761000	0.31378	0.415000	0.31203	-0.003000	0.12901	0.759000	0.33084	0.650000	0.86243	AAC			0.408	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051408.2		NM_030764		T	157716685	G	T	157716685	3	4	107	1	0	0	0	0	1	0	0	0	5808	1368	48	3	70	3	FCRL2	1	157716685	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	130500178	157716685	91533936	3	7958											
FBXO11	80204	mdanderson.org	37	chr2	48132711	48132711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgctgcTgcggcggcggcggaggctgc	1	8	19	13	4	0	0	0	0	0	0	0	1	0	1	0	5	8	8	0	5	0	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr2:48132711T>G	ENST00000403359.3	-	1	221	c.149A>C	c.(148-150)cAg>cCg	p.Q50P	AC079807.2_ENST00000439870.1_RNA|FBXO11_ENST00000316377.4_5'UTR|AC079807.2_ENST00000432064.1_RNA|FBXO11_ENST00000378314.3_5'UTR|AC079807.2_ENST00000417692.1_RNA	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	50					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)			ctgctgctgctgcggcggcgg	0.781			"Mis, F, D"		DLBCL																																p.Q50P				Rec	yes		2	2p16.3	80204	F-box protein 11		L	.	.			2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	c.A149C																																									SO:0001583	missense	80204	exon1			TGCTGCTGCGGCG	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.149A>C	2.37:g.48132711T>G	ENSP00000384823:p.Gln50Pro		8	0	0		8	0.38	3	NM_001190274	1	0	0	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	T	9.804	1.181361	0.21787	.	.	ENSG00000138081	ENST00000403359	T	0.41065	1.01	2.69	2.69	0.31865	.	.	.	.	.	T	0.27241	0.0668	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.12502	-1.0545	7	0.59425	D	0.04	.	8.1694	0.31245	0.0:0.0:0.0:1.0	.	.	.	.	P	50	ENSP00000384823:Q50P	ENSP00000384823:Q50P	Q	-	2	0	FBXO11	47986215	0.998000	0.40836	0.996000	0.52242	0.829000	0.46940	-0.048000	0.11944	1.078000	0.41014	0.402000	0.26972	CAG			0.781	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251181.3		NM_012167, NM_018693, NM_025133		G	48132711	T	G	48132711	3	3	107	1	0	0	0	0	1	0	0	0	5740	1580	55	4	2816	4	FBXO11	2	48132711	Missense_Mutation	SNP	T	TCGA-WZ-A8D5-01A-11D-A435-10		48132711	195066662	4	7959											
ALS2CR12	130540	mdanderson.org	37	chr2	202195505	202195505	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgccttcaaggctgctttGtagttgttctccaactcact	6	16	7	12	0	4	0	2	0	2	0	5	0	4	0	2	1	3	5	2	1	3	5			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr2:202195505G>T	ENST00000286190.5	-	7	622	c.576C>A	c.(574-576)taC>taA	p.Y192*	ALS2CR12_ENST00000405148.2_Nonsense_Mutation_p.Y192*|ALS2CR12_ENST00000392257.3_Nonsense_Mutation_p.Y192*|ALS2CR12_ENST00000448967.1_Intron|ALS2CR12_ENST00000439709.1_Nonsense_Mutation_p.Y192*			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	192					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						AGGCTGCTTTGTAGTTGTTCT	0.517																																					p.Y192X													.	.			0			c.C576A												103	91	95					2																	202195505		2203	4300	6503	SO:0001587	stop_gained	130540	exon8			TGCTTTGTAGTTG	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.576C>A	2.37:g.202195505G>T	ENSP00000286190:p.Tyr192*		70	0	0		77	0.05	4	NM_139163	0		0	G5E9S3|Q53TT6|Q8N1B6	Nonsense_Mutation	SNP	ENST00000286190.5	37	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	38	6.713106	0.97784	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000425488	.	.	.	4.19	2.37	0.29283	.	0.164448	0.29119	N	0.013090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4527	5.8134	0.18479	0.2345:0.0:0.7655:0.0	.	.	.	.	X	192;192;192;192;78	.	ENSP00000286190:Y192X	Y	-	3	2	ALS2CR12	201903750	1.000000	0.71417	0.990000	0.47175	0.768000	0.43524	0.864000	0.27926	1.127000	0.42034	0.561000	0.74099	TAC			0.517	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256286.1		NM_139163		T	202195505	G	T	202195505	4	4	107	1	0	0	0	0	0	1	0	0	553	1372	48	3	793	3	ALS2CR12	2	202195505	Nonsense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	154062794	202195505	41003868	5	7960											
CRYBG3	131544	mdanderson.org	37	chr3	97662072	97662072	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatttctattttaggaGgaaattattgtgacaagact	13	16	9	3	0	1	2	0	1	1	1	1	5	1	5	0	3	0	0	0	3	6	7	rs200227709	byFrequency	TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr3:97662072G>T	ENST00000182096.4	+	19	3047	c.2983G>T	c.(2983-2985)Gga>Tga	p.G995*	MINA_ENST00000333396.7_3'UTR|CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.G202*|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2943							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TATTTTAGGAGGAAATTATTG	0.373																																					p.G2943X													.	.			0			c.G8827T												80	78	79					3																	97662072		1816	4071	5887	SO:0001587	stop_gained	131544	exon22			TTAGGAGGAAATT			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2983G>T	3.37:g.97662072G>T	ENSP00000182096:p.Gly995*		35	0	0		35	0.09	3	NM_153605	18	0	0	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Nonsense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	G	41	8.703098	0.98920	.	.	ENSG00000080200	ENST00000182096;ENST00000389622	.	.	.	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	.	.	.	X	995;202	.	ENSP00000182096:G995X	G	+	1	0	CRYBG3	99144762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.836000	0.69375	2.866000	0.98385	0.650000	0.86243	GGA			0.373	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000353751.1		NM_153605		T	97662072	G	T	97662072	4	4	107	1	0	0	0	0	0	1	0	0	3915	1001	35	3	3057	3	CRYBG3	3	97662072	Nonsense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		97662072	100360358	6	7961											
C4orf23	152992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	8470016	8470016	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaatttactgttaggtggaAagcaattaaacacaagaagt	17	10	9	5	1	0	1	0	0	0	1	0	3	0	2	0	2	3	2	0	2	9	4			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr4:8470016A>G	ENST00000389737.4	+	9	1870	c.1870A>G	c.(1870-1872)Aag>Gag	p.K624E	TRMT44_ENST00000513449.2_Missense_Mutation_p.K383E	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	624					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GTTAGGTGGAAAGCAATTAAA	0.498																																					p.K624E													.	.			0			c.A1870G												72	80	77					4																	8470016		2203	4300	6503	SO:0001583	missense	152992	exon9			GGTGGAAAGCAAT	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1870A>G	4.37:g.8470016A>G	ENSP00000374387:p.Lys624Glu		79	0	0		66	0.24	16	NM_152544	10	0.3	3	Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	A	1.995	-0.430946	0.04669	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.17528	2.27;2.28	3.93	-1.61	0.08399	.	1.402540	0.04992	N	0.467469	T	0.07863	0.0197	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.35325	-0.9793	10	0.05721	T	0.95	-3.8925	10.1096	0.42555	0.5389:0.0:0.4611:0.0	.	624;383	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	E	383;624;232	ENSP00000424643:K383E;ENSP00000374387:K624E	ENSP00000285635:K232E	K	+	1	0	METTL19	8520916	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.005000	0.12855	-0.349000	0.08274	0.379000	0.24179	AAG			0.498	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000359197.2		NM_152544		G	8470016	A	G	8470016	3	3	107	1	0	0	0	0	1	0	0	0	2258	15	1	4	1904	4	C4orf23	4	8470016	Missense_Mutation	SNP	A	TCGA-WZ-A8D5-01A-11D-A435-10		8470016	182684260	7	7962											
SGTB	54557	mdanderson.org	37	chr5	65008803	65008803	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccttacagaaggaactGgtaaacatttctgtcaaagg	15	10	8	8	0	2	1	1	0	1	1	2	2	2	2	1	3	4	1	1	3	7	4			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr5:65008803G>T	ENST00000381007.4	-	3	424	c.189C>A	c.(187-189)acC>acA	p.T63T		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	63										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		AGAAGGAACTGGTAAACATTT	0.348																																					p.T63T													SGTB,NS,meningioma,0,1	SGTB	0	1	0			c.C189A												114	111	112					5																	65008803		2203	4300	6503	SO:0001819	synonymous_variant	54557	exon3			GGAACTGGTAAAC	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.189C>A	5.37:g.65008803G>T			77	0	0		49	0.06	3	NM_019072	22	0	0		Silent	SNP	ENST00000381007.4	37	CCDS3988.1																																																																																					0.348	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215057.2		NM_019072		T	65008803	G	T	65008803	2	4	107	1	0	0	0	0	0	0	0	1	14249	1335	47	3		3	SGTB	5	65008803	Silent	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		65008803	115906457	8	7963											
PAIP2	51247	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	138700433	138700433	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctctggaagatcttgtgGtaaaaagttatttttcatct	10	18	7	6	0	4	1	1	0	3	1	5	2	4	2	0	2	0	2	0	2	5	6			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr5:138700433G>A	ENST00000394795.2	+	3	1309		c.e3+1		PAIP2_ENST00000511381.1_Splice_Site|PAIP2_ENST00000511706.1_Intron|CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000510080.1_Splice_Site|PAIP2_ENST00000265192.4_Splice_Site			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2						memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGATCTTGTGGTAAAAAGTTA	0.378																																					.													.	PAIP2	10		0			c.318+1G>A												78	70	73					5																	138700433		2203	4300	6503	SO:0001630	splice_region_variant	51247	exon3			CTTGTGGTAAAAA	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.318+1G>A	5.37:g.138700433G>A			94	0	0		71	0.06	4	NM_016480	36	0.25	9	B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Splice_Site	SNP	ENST00000394795.2	37	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401323	0.83120	.	.	ENSG00000120727	ENST00000265192;ENST00000394795;ENST00000510080	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4627	0.94924	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAIP2	138728332	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.172000	0.89677	2.709000	0.92574	0.655000	0.94253	.			0.378	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373002.1		NM_016480	Intron	A	138700433	G	A	138700433	5	1	107	1	0	0	0	0	0	0	1	0	11414	1275	44	3	325	3	PAIP2	5	138700433	Splice_Site	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	73691630	138700433	42214827	9	7964											
DIAPH1	1729	mdanderson.org	37	chr5	140953766	140953766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttccagttcctttgtcaGcttggcaacctacagaaata	11	13	6	11	0	2	1	1	0	1	1	4	1	4	1	3	1	3	3	3	1	4	6			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr5:140953766G>T	ENST00000398557.4	-	16	1791	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M	DIAPH1_ENST00000520569.1_Missense_Mutation_p.L497M|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L542M|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L551M|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L542M|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L542M|DIAPH1_ENST00000253811.6_Missense_Mutation_p.L551M|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L542M	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	551					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)			TCCTTTGTCAGCTTGGCAACC	0.468																																					p.L551M													.	.			0			c.C1651A												75	74	74					5																	140953766		1986	4171	6157	SO:0001583	missense	1729	exon16			TTGTCAGCTTGGC	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.1651C>A	5.37:g.140953766G>T	ENSP00000381565:p.Leu551Met		56	0	0		41	0.07	3	NM_005219	73	0	0	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514598	0.64522	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;D;T;T;T;T;T	0.90069	1.97;1.97;-2.61;1.97;1.97;1.97;1.97;1.97	5.1	4.15	0.48705	.	0.704907	0.12205	N	0.489860	D	0.92916	0.7746	M	0.71581	2.175	0.37700	D	0.924185	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.91947	0.5568	10	0.59425	D	0.04	.	8.5976	0.33725	0.1777:0.0:0.8223:0.0	.	542;551	E9PEZ2;O60610	.;DIAP1_HUMAN	M	551;497;542;542;542;551;551;542	ENSP00000373706:L551M;ENSP00000429282:L497M;ENSP00000381570:L542M;ENSP00000373709:L542M;ENSP00000381572:L542M;ENSP00000381565:L551M;ENSP00000253811:L551M;ENSP00000428268:L542M	ENSP00000253811:L551M	L	-	1	2	DIAPH1	140933950	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.913000	0.39956	2.656000	0.90262	0.579000	0.79373	CTG			0.468	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				NM_005219		T	140953766	G	T	140953766	3	4	107	1	0	0	0	0	1	0	0	0	4523	962	34	2	2219	2	DIAPH1	5	140953766	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	2253333	140953766	39961494	10	7965											
UBD	10537	hgsc.bcm.edu;broad.mit.edu	37	chr6	29524057	29524058	+	Frame_Shift_Ins	INS	-	-	T																															agaccggacatgttctttgaINStttttttcacgctgtcatat																										TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr6:29524057_29524058insT	ENST00000377050.4	-	2	320_321	c.97_98insA	c.(97-99)atcfs	p.I33fs	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	33	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						ATGTTCTTTGATTTTTTTCACG	0.47																																					p.I33fs													.	UBD	13		0			c.98_99insA																																									SO:0001589	frameshift_variant	10537	exon2			TCTTTGATTTTTT	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.98dupA	6.37:g.29524064_29524064dupT	ENSP00000366249:p.Ile33fs		133	0	0		134	0.07	10	NM_006398	1253	0	0	B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Frame_Shift_Ins	INS	ENST00000377050.4	37	CCDS4662.1																																																																																					0.47	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076628.3				T	29524058	-	T	29524057	7	5	107	1	0	1	1	0	0	0	0	0	16867	333	12	0	403	0	UBD	6	29524057	Frame_Shift_Ins	INS	-	TCGA-WZ-A8D5-01A-11D-A435-10		29524057	141591010	11	7966											
NCOA7	135112	broad.mit.edu;mdanderson.org	37	chr6	126249822	126249822	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagatgctgatttataccacGgacgaagcaactcttgcagc	12	10	9	10	2	1	2	0	1	1	1	1	4	1	3	1	1	6	3	1	1	5	5			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr6:126249822G>T	ENST00000368357.3	+	17	3086	c.2734G>T	c.(2734-2736)Gga>Tga	p.G912*	NCOA7_ENST00000229634.9_Nonsense_Mutation_p.G797*|NCOA7_ENST00000392477.2_Nonsense_Mutation_p.G912*	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	912	TLD.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTTATACCACGGACGAAGCAA	0.358																																					p.G912X													.	NCOA7	92		0			c.G2734T												116	121	120					6																	126249822		2203	4300	6503	SO:0001587	stop_gained	135112	exon17			TACCACGGACGAA	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2734G>T	6.37:g.126249822G>T	ENSP00000357341:p.Gly912*		83	0	0		61	0.05	3	NM_001199619	33	0	0	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Nonsense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.246274|9.246274	0.99113|0.99113	.|.	.|.	ENSG00000111912|ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634|ENST00000438495	.|.	.|.	.|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72716	.|0.3495	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68360	.|-0.5429	.|4	0.87932|.	D|.	0|.	-20.0392|-20.0392	20.7342|20.7342	0.99715|0.99715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	912;912;797|206	.|.	ENSP00000229634:G797X|.	G|R	+|+	1|2	0|0	NCOA7|NCOA7	126291515|126291515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	9.869000|9.869000	0.99810|0.99810	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	GGA|CGG			0.358	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000042083.4		XM_059748		T	126249822	G	T	126249822	4	4	107	1	0	0	0	0	0	1	0	0	10251	1117	39	1	2792	1	NCOA7	6	126249822	Nonsense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	96725765	126249822	44865245	12	7967											
SKAP2	8935	hgsc.bcm.edu;mdanderson.org	37	chr7	26883702	26883702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgaggctaatgaaataGtgtctggaggcccagcaaaa	13	9	12	7	0	2	2	0	2	2	0	2	3	2	3	1	3	1	3	1	3	5	3			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr7:26883702G>T	ENST00000345317.2	-	4	567	c.254C>A	c.(253-255)aCt>aAt	p.T85N	SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	85					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)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TAATGAAATAGTGTCTGGAGG	0.403																																					p.T85N													.	.			0			c.C254A												178	178	178					7																	26883702		2203	4300	6503	SO:0001583	missense	8935	exon4			GAAATAGTGTCTG		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.254C>A	7.37:g.26883702G>T	ENSP00000005587:p.Thr85Asn		54	0	0		76	0.05	4	NM_003930	21	0	0	A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	G	8.639	0.895627	0.17686	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.12879	2.64;2.64	5.57	3.64	0.41730	.	0.171766	0.51477	D	0.000085	T	0.06325	0.0163	N	0.08118	0	0.19575	N	0.999964	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.002	T	0.38222	-0.9671	10	0.15952	T	0.53	-16.6212	9.9099	0.41399	0.0:0.1279:0.535:0.3372	.	70;85	B7Z5N4;O75563	.;SKAP2_HUMAN	N	85;70;70	ENSP00000005587:T85N;ENSP00000408163:T70N	ENSP00000005587:T85N	T	-	2	0	SKAP2	26850227	0.531000	0.26338	0.823000	0.32752	0.947000	0.59692	0.641000	0.24720	1.337000	0.45525	0.585000	0.79938	ACT			0.403	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214128.1				T	26883702	G	T	26883702	3	4	107	1	0	0	0	0	1	0	0	0	14379	1029	36	3	861	3	SKAP2	7	26883702	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		26883702	132254961	13	7968											
RABGEF1	27342	mdanderson.org	37	chr7	66273943	66273943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcaggaggattttgatcGctacatgtctggccagacct	10	11	11	9	1	2	2	1	1	1	1	3	4	2	4	2	3	1	1	2	3	2	3			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr7:66273943G>T	ENST00000284957.5	+	9	1225	c.1148G>T	c.(1147-1149)cGc>cTc	p.R383L	RABGEF1_ENST00000439720.2_Missense_Mutation_p.R396L|KCTD7_ENST00000451741.2_Missense_Mutation_p.R383L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R397L|KCTD7_ENST00000380828.2_Missense_Mutation_p.R423L|KCTD7_ENST00000510829.2_Missense_Mutation_p.R383L|GTF2IRD1P1_ENST00000457166.1_RNA|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R383L			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	600					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						GATTTTGATCGCTACATGTCT	0.463																																					p.R383L													RABGEF1,colon,carcinoma,+1,2	RABGEF1	1	2	0			c.G1148T												96	91	93					7																	66273943		2203	4300	6503	SO:0001583	missense	27342	exon9			TTGATCGCTACAT	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.1148G>T	7.37:g.66273943G>T	ENSP00000284957:p.Arg383Leu		73	0	0		95	0.05	5	NM_014504	94	0	0	B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377489	0.61735	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.87	5.87	0.94306	Vacuolar sorting protein 9, subgroup (1);	0.047593	0.85682	D	0.000000	T	0.36690	0.0976	M	0.61703	1.905	0.80722	D	1	B;B;B	0.30664	0.032;0.027;0.289	B;B;B	0.28465	0.007;0.008;0.09	T	0.15263	-1.0443	10	0.66056	D	0.02	-8.0344	19.5705	0.95413	0.0:0.0:1.0:0.0	.	397;217;600	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	L	467;423;383;383;299;383;383;396;397	ENSP00000370208:R423L;ENSP00000421124:R383L;ENSP00000398177:R383L;ENSP00000284957:R383L;ENSP00000415815:R383L;ENSP00000403429:R396L;ENSP00000390480:R397L	ENSP00000370207:R467L	R	+	2	0	RABGEF1;KCTD7	65911378	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.324000	0.65863	2.941000	0.99782	0.655000	0.94253	CGC			0.463	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251737.3		NM_014504		T	66273943	G	T	66273943	3	4	107	1	0	0	0	0	1	0	0	0	12989	1087	38	1	1178	1	RABGEF1	7	66273943	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	39390241	66273943	92864720	14	7969											
RP1L1	94137	ucsc.edu	37	chr8	10474009	10474009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcagcctcgcttctcctgGcatttttcatggctggggtt	3	17	10	11	1	3	0	2	0	1	0	5	0	3	0	2	4	1	4	2	4	0	5			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr8:10474009G>A	ENST00000382483.3	-	3	921	c.698C>T	c.(697-699)gCc>gTc	p.A233V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	233					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTTCTCCTGGCATTTTTCAT	0.552																																					p.A233V													.	RP1L1	453		0			c.C698T												66	69	68					8																	10474009		1912	4135	6047	SO:0001583	missense	94137	exon3			CTCCTGGCATTTT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.698C>T	8.37:g.10474009G>A	ENSP00000371923:p.Ala233Val		42	0	0		43	0.09	4	NM_178857	0		0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607710	0.03717	.	.	ENSG00000183638	ENST00000382483	D	0.86694	-2.16	4.42	0.137	0.14787	.	1.094750	0.07255	N	0.866483	T	0.71247	0.3317	N	0.19112	0.55	0.09310	N	1	B	0.26744	0.158	B	0.20767	0.031	T	0.54794	-0.8240	10	0.14656	T	0.56	-1.5712	0.5062	0.00588	0.3415:0.1761:0.3032:0.1792	.	233	A6NKC6	.	V	233	ENSP00000371923:A233V	ENSP00000371923:A233V	A	-	2	0	RP1L1	10511419	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.495000	0.22483	-0.172000	0.10779	0.462000	0.41574	GCC			0.552	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375673.1				A	10474009	G	A	10474009	3	1	107	1	0	0	0	0	1	0	0	0	13556	1203	42	2	6512	2	RP1L1	8	10474009	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		10474009	135890013	15	7970											
HR	55806	mdanderson.org	37	chr8	21981246	21981246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggggacatcgccagtGggtgttgaagagtccatggt	8	8	17	8	2	0	2	0	1	0	1	2	3	1	3	2	4	1	2	2	4	1	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr8:21981246G>T	ENST00000381418.4	-	6	3311	c.1831C>A	c.(1831-1833)Cac>Aac	p.H611N	HR_ENST00000312841.8_Missense_Mutation_p.H611N	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	611					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CATCGCCAGTGGGTGTTGAAG	0.662																																					p.H611N													.	.			0			c.C1831A												50	31	37					8																	21981246		2201	4297	6498	SO:0001583	missense	55806	exon6			GCCAGTGGGTGTT	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1831C>A	8.37:g.21981246G>T	ENSP00000370826:p.His611Asn		28	0	0		22	0.14	3	NM_018411	0		0	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222592	0.79464	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	D;T	0.81821	-1.54;-1.45	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000027	D	0.88351	0.6413	M	0.72894	2.215	0.34886	D	0.74509	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	D	0.92324	0.5868	10	0.87932	D	0	-18.8092	14.2578	0.66062	0.0:0.0:1.0:0.0	.	611;611	O43593-2;O43593	.;HAIR_HUMAN	N	611	ENSP00000370826:H611N;ENSP00000326765:H611N	ENSP00000326765:H611N	H	-	1	0	HR	22037191	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.999000	0.63934	2.493000	0.84123	0.313000	0.20887	CAC			0.662	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214213.1				T	21981246	G	T	21981246	3	4	107	1	0	0	0	0	1	0	0	0	7362	1348	47	3	1794	3	HR	8	21981246	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	11507237	21981246	124382776	16	7971											
SYBU	55638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	110587804	110587804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcactatctcatcgaaCaaatctgtgctgttggctat	9	14	8	10	1	3	0	2	0	2	0	5	1	3	0	0	1	2	4	0	1	4	3			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr8:110587804C>T	ENST00000422135.1	-	8	1838	c.1323G>A	c.(1321-1323)ttG>ttA	p.L441L	SYBU_ENST00000446070.2_Silent_p.L440L|SYBU_ENST00000408889.3_Silent_p.L322L|SYBU_ENST00000533171.1_Silent_p.L441L|SYBU_ENST00000528647.1_Silent_p.L440L|SYBU_ENST00000276646.9_Silent_p.L441L|SYBU_ENST00000399066.3_Silent_p.L438L|SYBU_ENST00000408908.2_Silent_p.L441L|SYBU_ENST00000440310.1_Silent_p.L441L|SYBU_ENST00000533895.1_Silent_p.L440L|SYBU_ENST00000424158.2_Silent_p.L446L|SYBU_ENST00000433638.1_Silent_p.L441L|SYBU_ENST00000532779.1_Silent_p.L373L|SYBU_ENST00000529690.1_Silent_p.L311L|SYBU_ENST00000419099.1_Silent_p.L440L|SYBU_ENST00000529175.1_Silent_p.L235L|SYBU_ENST00000533065.1_Silent_p.L322L|SYBU_ENST00000528331.1_Silent_p.L322L|SYBU_ENST00000527707.1_5'Flank	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	441					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCATCGAACAAATCTGTGC	0.547																																					p.L441L													.	.			0			c.G1323A												149	151	150					8																	110587804		2066	4212	6278	SO:0001819	synonymous_variant	55638	exon8			ATCGAACAAATCT	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1323G>A	8.37:g.110587804C>T			133	0	0		153	0.16	24	NM_001099752	1	0	0	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	CCDS47912.1																																																																																					0.547	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000385501.1		NM_017786		T	110587804	C	T	110587804	2	4	107	1	0	0	0	0	0	0	0	1	15450	477	17	3		3	SYBU	8	110587804	Silent	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	88606558	110587804	35776218	17	7972											
ARMC4	55130	ucsc.edu	37	chr10	28250581	28250581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacgatggtcaggtggttcTtcatcttcctcactttctga	6	16	9	10	1	6	2	3	2	3	0	7	3	7	2	1	3	0	1	1	3	0	4			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr10:28250581T>A	ENST00000305242.5	-	10	1394	c.1302A>T	c.(1300-1302)gaA>gaT	p.E434D	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.E291D|ARMC4_ENST00000545014.1_De_novo_Start_OutOfFrame|ARMC4_ENST00000537576.1_Missense_Mutation_p.E126D	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	434					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGGTGGTTCTTCATCTTCCT	0.398																																					p.E434D													.	ARMC4	177		0			c.A1302T												72	68	69					10																	28250581		2202	4280	6482	SO:0001583	missense	55130	exon10			TGGTTCTTCATCT	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1302A>T	10.37:g.28250581T>A	ENSP00000306410:p.Glu434Asp		127	0.0393700787	5		153	0.09	14	NM_018076	0		0	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082750	0.36758	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	T;T;T;T	0.60797	0.65;0.98;0.16;0.2	5.4	-1.39	0.08997	.	0.101407	0.64402	D	0.000004	T	0.44540	0.1298	L	0.58669	1.825	0.49582	D	0.999809	B	0.30542	0.284	B	0.27380	0.079	T	0.23726	-1.0180	10	0.66056	D	0.02	-33.1632	5.0207	0.14360	0.1285:0.3134:0.0:0.5582	.	434	Q5T2S8	ARMC4_HUMAN	D	126;434;126;328;291	ENSP00000443208:E126D;ENSP00000306410:E434D;ENSP00000398155:E328D;ENSP00000239715:E291D	ENSP00000239715:E291D	E	-	3	2	ARMC4	28290587	0.999000	0.42202	0.886000	0.34754	0.568000	0.35870	0.421000	0.21280	-0.097000	0.12307	0.528000	0.53228	GAA			0.398	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047339.1		NM_018076		A	28250581	T	A	28250581	3	1	107	1	0	0	0	0	1	0	0	0	953	1606	56	5	1876	5	ARMC4	10	28250581	Missense_Mutation	SNP	T	TCGA-WZ-A8D5-01A-11D-A435-10		28250581	107284166	18	7973											
PDCD11	22984	hgsc.bcm.edu;broad.mit.edu	37	chr10	105160253	105160253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagagaaagcagcaagtccGcaagagagaagtttgaaatc	18	5	12	6	1	0	5	0	1	0	4	2	7	1	5	1	0	2	4	1	0	5	1	rs564339479		TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr10:105160253G>T	ENST00000369797.3	+	3	296	c.202G>T	c.(202-204)Gca>Tca	p.A68S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	68					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)		CAGCAAGTCCGCAAGAGAGAA	0.368																																					p.A68S													.	.			0			c.G202T												119	132	127					10																	105160253		2203	4300	6503	SO:0001583	missense	22984	exon3			AAGTCCGCAAGAG	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.202G>T	10.37:g.105160253G>T	ENSP00000358812:p.Ala68Ser		79	0	0		74	0.05	4	NM_014976	118	0	0	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	6.530	0.466018	0.12402	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.09538	2.97	5.72	-1.61	0.08399	Nucleic acid-binding, OB-fold (1);	1.445070	0.03978	N	0.292777	T	0.03608	0.0103	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31668	-0.9935	10	0.09590	T	0.72	2.5432	0.6676	0.00853	0.3884:0.1233:0.238:0.2503	.	68	Q14690	RRP5_HUMAN	S	68	ENSP00000358812:A68S	ENSP00000358812:A68S	A	+	1	0	PDCD11	105150243	0.000000	0.05858	0.001000	0.08648	0.982000	0.71751	-1.029000	0.03585	-0.629000	0.05575	0.561000	0.74099	GCA			0.368	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050151.1				T	105160253	G	T	105160253	3	4	107	1	0	0	0	0	1	0	0	0	11634	1087	38	1	208	1	PDCD11	10	105160253	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	76909672	105160253	30374494	19	7974											
FANK1	92565	mdanderson.org	37	chr10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccgaccatggagcccCagagtaagggaggcccgggc	10	2	16	13	2	0	1	0	0	0	1	0	4	0	3	5	4	3	2	5	4	1	1	rs202109621		TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X													.	.			0			c.C10T												8	12	11					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*		15	0	0		29	0.1	3	NM_145235	7	0	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG			0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_145235		T	127585221	C	T	127585221	4	4	107	1	0	0	0	0	0	1	0	0	5685	595	21	3	12	3	FANK1	10	127585221	Nonsense_Mutation	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	22424968	127585221	7949526	20	7975											
JAKMIP3	282973	mdanderson.org	37	chr10	133976881	133976881	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgggacgcccagatcctgCgggagcgcatggagctgctg	7	5	17	12	4	0	1	0	0	0	1	1	4	1	4	2	3	5	3	2	3	0	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr10:133976881C>A	ENST00000298622.4	+	19	2521	c.2383C>A	c.(2383-2385)Cgg>Agg	p.R795R	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	795			R -> G (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			Golgi apparatus (GO:0005794)		p.R795G(1)		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)		CCAGATCCTGCGGGAGCGCAT	0.687																																					p.R795R													JAKMIP3,NS,carcinoma,0,1	JAKMIP3	0	1	1	Substitution - Missense(1)	breast(1)	c.C2383A												33	27	29					10																	133976881		2200	4297	6497	SO:0001819	synonymous_variant	282973	exon19			ATCCTGCGGGAGC	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.2383C>A	10.37:g.133976881C>A			25	0	0		12	0.17	2	NM_001105521	0		0	A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	CCDS44494.1																																																																																					0.687	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051049.3		NM_194303		A	133976881	C	A	133976881	2	1	107	1	0	0	0	0	0	0	0	1	7957	759	27	1		1	JAKMIP3	10	133976881	Silent	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	6391660	133976881	1557866	21	7976											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619052	1619052	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggacacagcagctggactgGcagcagcagggcttgcagca	10	4	16	11	0	0	0	0	0	0	0	0	2	0	2	0	4	6	8	0	4	0	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr11:1619052G>T	ENST00000412090.1	-	1	472	c.429C>A	c.(427-429)tgC>tgA	p.C143*	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	143	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		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)		AGCTGGACTGGCAGCAGCAGG	0.607																																					p.C143X													.	KRTAP5-2	38		0			c.C429A												101	106	104					11																	1619052		2202	4299	6501	SO:0001587	stop_gained	440021	exon1			GGACTGGCAGCAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.429C>A	11.37:g.1619052G>T	ENSP00000400041:p.Cys143*		96	0	0		68	0.04	3	NM_001004325	0		0	A9JTZ1	Nonsense_Mutation	SNP	ENST00000412090.1	37	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	G	9.348	1.064734	0.20067	.	.	ENSG00000205867	ENST00000412090	.	.	.	3.63	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.31893	N	0.616926	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1177	0.30953	0.2179:0.0:0.7821:0.0	.	.	.	.	X	143	.	ENSP00000400041:C143X	C	-	3	2	KRTAP5-2	1575628	0.072000	0.21174	0.452000	0.26994	0.285000	0.27093	0.757000	0.26433	0.172000	0.19760	0.109000	0.15622	TGC			0.607	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384775.1		NM_001004325		T	1619052	G	T	1619052	4	4	107	1	0	0	0	0	0	1	0	0	8576	1195	42	2	108	2	KRTAP5-2	11	1619052	Nonsense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		1619052	133387464	22	7977											
CDKN1C	1028	mdanderson.org	37	chr11	2906488	2906488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtccacttcggtccactGcaggcgtccagggccccgca	5	7	12	17	3	0	0	0	0	0	0	4	0	3	0	5	3	1	3	5	3	0	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr11:2906488G>T	ENST00000414822.3	-	1	623	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	CDKN1C_ENST00000430149.2_Missense_Mutation_p.Q78K|CDKN1C_ENST00000380725.1_Missense_Mutation_p.Q67K|CDKN1C_ENST00000440480.2_Missense_Mutation_p.Q67K|CDKN1C_ENST00000313407.6_Missense_Mutation_p.Q67K	NM_000076.2	NP_000067.1	P49918	CDN1C_HUMAN	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	78					adrenal gland development (GO:0030325)|aging (GO:0007568)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|digestive system development (GO:0055123)|embryonic placenta morphogenesis (GO:0060669)|genetic imprinting (GO:0071514)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|myeloid cell differentiation (GO:0030099)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of kinase activity (GO:0033673)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|skeletal system development (GO:0001501)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGGTCCACTGCAGGCGTCCA	0.721																																					p.Q78K	GBM(111;59 1151 2497 5746 16112 18241 29216)												.	.			0			c.C232A												16	12	13					11																	2906488		2146	4249	6395	SO:0001583	missense	1028	exon1			TCCACTGCAGGCG	D64137	CCDS7738.1, CCDS44519.1	11p15.5	2014-09-17	2004-02-13		ENSG00000129757	ENSG00000129757			1786	protein-coding gene	gene with protein product		600856	"Beckwith-Wiedemann syndrome"	BWCR, BWS		7729684	Standard	NM_000076		Approved	P57, KIP2	uc001lws.4	P49918	OTTHUMG00000010040	ENST00000414822.3:c.232C>A	11.37:g.2906488G>T	ENSP00000413720:p.Gln78Lys		35	0	0		34	0.09	3	NM_000076	7	0	0		Missense_Mutation	SNP	ENST00000414822.3	37	CCDS7738.1	.	.	.	.	.	.	.	.	.	.	g	12.29	1.893179	0.33442	.	.	ENSG00000129757	ENST00000380725;ENST00000414822;ENST00000440480;ENST00000313407;ENST00000430149	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	2.43	2.43	0.29744	.	.	.	.	.	T	0.71676	0.3368	N	0.25094	0.71	0.26197	N	0.97951	B;B	0.26258	0.145;0.053	B;B	0.27076	0.032;0.076	T	0.62886	-0.6759	9	0.42905	T	0.14	.	9.3629	0.38206	0.0:0.2206:0.7793:0.0	.	67;78	A6NK88;P49918	.;CDN1C_HUMAN	K	67;78;67;67;78	ENSP00000370101:Q67K;ENSP00000413720:Q78K;ENSP00000411257:Q67K;ENSP00000321019:Q67K;ENSP00000411552:Q78K	ENSP00000321019:Q67K	Q	-	1	0	CDKN1C	2863064	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.393000	0.52544	1.407000	0.46875	0.298000	0.19748	CAG			0.721	CDKN1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000027774.2		NM_000076		T	2906488	G	T	2906488	3	4	107	1	0	0	0	0	1	0	0	0	3162	1328	46	2	726	2	CDKN1C	11	2906488	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	1287436	2906488	132100028	23	7978											
ARAP1	116985	mdanderson.org	37	chr11	72404840	72404840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaccttctccgcaaagtgCagggggcgctctggggagag	8	6	16	11	2	2	1	0	0	2	1	3	2	2	1	2	4	2	4	2	4	1	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr11:72404840C>T	ENST00000393609.3	-	28	3907	c.3705G>A	c.(3703-3705)ctG>ctA	p.L1235L	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Silent_p.L929L|ARAP1_ENST00000393605.3_Silent_p.L995L|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000359373.5_Silent_p.L1235L|ARAP1_ENST00000334211.8_Silent_p.L990L|ARAP1_ENST00000455638.2_Silent_p.L1235L|ARAP1_ENST00000426523.1_Silent_p.L990L	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1235	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)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCGCAAAGTGCAGGGGGCGCT	0.627																																					p.L1235L	Ovarian(102;1198 1520 13195 17913 37529)												.	.			0			c.G3705A												48	35	40					11																	72404840		2200	4290	6490	SO:0001819	synonymous_variant	116985	exon28			AAAGTGCAGGGGG	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.3705G>A	11.37:g.72404840C>T			53	0	0		29	0.1	3	NM_001040118	112	0	0	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1																																																																																					0.627	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347428.1		NM_001040118		T	72404840	C	T	72404840	2	4	107	1	0	0	0	0	0	0	0	1	838	697	25	2		2	ARAP1	11	72404840	Silent	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	69498352	72404840	62601676	24	7979											
TMPRSS4	56649	mdanderson.org	37	chr11	117982461	117982461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctgtgtccagcctgtGggaagagcctgaagaccccc	7	8	12	14	0	1	3	0	1	1	2	2	4	2	4	6	1	3	0	6	1	2	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr11:117982461G>T	ENST00000437212.3	+	8	803	c.589G>T	c.(589-591)Ggg>Tgg	p.G197W	TMPRSS4_ENST00000523251.1_Missense_Mutation_p.G157W|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.G195W|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.G50W|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.G192W			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	197	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				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)		TCCAGCCTGTGGGAAGAGCCT	0.607																																					p.G197W													.	.			0			c.G589T												62	52	55					11																	117982461		2200	4296	6496	SO:0001583	missense	56649	exon8			GCCTGTGGGAAGA	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.589G>T	11.37:g.117982461G>T	ENSP00000416037:p.Gly197Trp		53	0	0		53	0.06	3	NM_019894	0		0	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800710	0.70567	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;T;T;T;T;T	0.69175	-0.38;-0.28;-0.38;-0.38;-0.38;-0.38	5.06	5.06	0.68205	Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);	0.000000	0.64402	D	0.000014	D	0.84197	0.5419	M	0.88105	2.93	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	0.87578	0.99;0.987;0.978;0.998;0.995	D	0.87456	0.2404	10	0.87932	D	0	.	15.3365	0.74260	0.0:0.0:1.0:0.0	.	172;157;50;197;195	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	W	195;50;157;197;192;144	ENSP00000435184:G195W;ENSP00000428814:G50W;ENSP00000429209:G157W;ENSP00000416037:G197W;ENSP00000430547:G192W;ENSP00000428407:G144W	ENSP00000416037:G197W	G	+	1	0	TMPRSS4	117487671	1.000000	0.71417	0.768000	0.31515	0.624000	0.37722	8.448000	0.90335	2.343000	0.79666	0.609000	0.83330	GGG			0.607	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000377328.2		NM_019894		T	117982461	G	T	117982461	3	4	107	1	0	0	0	0	1	0	0	0	16272	1348	47	3	619	3	TMPRSS4	11	117982461	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	45577621	117982461	17024055	25	7980											
HYOU1	10525	mdanderson.org	37	chr11	118925732	118925732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaacgagaataattgaGaaccatgcccaacacttcct	16	8	7	10	1	0	3	0	1	0	3	1	6	1	3	3	0	4	0	3	0	6	4			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr11:118925732G>T	ENST00000404233.3	-	6	584	c.460C>A	c.(460-462)Ctc>Atc	p.L154I	HYOU1_ENST00000525859.1_Missense_Mutation_p.L154I|HYOU1_ENST00000529972.1_Missense_Mutation_p.L154I|HYOU1_ENST00000543287.1_Missense_Mutation_p.L67I	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	154					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)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GAATAATTGAGAACCATGCCC	0.532																																					p.L154I													.	.			0			c.C460A												121	101	107					11																	118925732		2200	4295	6495	SO:0001583	missense	10525	exon6			AATTGAGAACCAT	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.460C>A	11.37:g.118925732G>T	ENSP00000384144:p.Leu154Ile		44	0	0		35	0.09	3	NM_001130991	124	0	0	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710748	0.89112	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.10960	4.59;4.59;4.59;2.82;4.59	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.89287	3.02	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;0.984;0.995;0.995	T	0.47459	-0.9116	10	0.87932	D	0	-17.3501	16.5649	0.84576	0.0:0.0:1.0:0.0	.	145;198;154;154	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	I	154;145;154;154;3;154;197;67;154	ENSP00000384144:L154I;ENSP00000437313:L154I;ENSP00000433397:L154I;ENSP00000442727:L67I;ENSP00000431874:L154I	ENSP00000278752:L145I	L	-	1	0	HYOU1	118430942	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.649000	0.67936	2.564000	0.86499	0.561000	0.74099	CTC			0.532	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389353.1		NM_006389		T	118925732	G	T	118925732	3	4	107	1	0	0	0	0	1	0	0	0	7485	942	33	3	2623	3	HYOU1	11	118925732	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	943271	118925732	16080784	26	7981											
ERC1	23085	broad.mit.edu	37	chr12	1292505	1292505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatcctcaggactgaaaaAggactcacggcttaagacac	14	6	10	11	1	2	2	2	1	0	1	3	4	3	4	1	4	0	2	1	4	3	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr12:1292505A>G	ENST00000397203.2	+	11	2481	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R	ERC1_ENST00000543086.3_Missense_Mutation_p.K664R|ERC1_ENST00000360905.4_Missense_Mutation_p.K692R|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Missense_Mutation_p.K692R|ERC1_ENST00000355446.5_Missense_Mutation_p.K692R|ERC1_ENST00000589028.1_Missense_Mutation_p.K692R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	692					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)			GGACTGAAAAAGGACTCACGG	0.363																																					p.K692R													.	ERC1	95		0			c.A2075G												89	88	89					12																	1292505		2203	4300	6503	SO:0001583	missense	23085	exon11			TGAAAAAGGACTC	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.2075A>G	12.37:g.1292505A>G	ENSP00000380386:p.Lys692Arg		428	0.0046728972	2		705	0.01	7	NM_178040	54	0	0	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455744	0.26161	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	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	5.37	5.37	0.77165	.	0.093551	0.64402	D	0.000001	T	0.35595	0.0937	L	0.42686	1.345	0.80722	D	1	B;B;B;B;B	0.16166	0.002;0.016;0.003;0.003;0.001	B;B;B;B;B	0.19666	0.011;0.026;0.008;0.008;0.008	T	0.16041	-1.0416	10	0.11485	T	0.65	-32.4174	15.6887	0.77434	1.0:0.0:0.0:0.0	.	440;332;664;664;692	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	664;692;664;664;392;664;664;392;692;692;692;664;440;332	ENSP00000340054:K664R;ENSP00000380386:K692R;ENSP00000438546:K664R;ENSP00000442976:K392R;ENSP00000442739:K692R;ENSP00000347621:K692R;ENSP00000354158:K692R;ENSP00000410064:K664R	ENSP00000299183:K392R	K	+	2	0	ERC1	1162766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.281000	0.72632	2.170000	0.68504	0.460000	0.39030	AAG			0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064		G	1292505	A	G	1292505	3	3	107	1	0	0	0	0	1	0	0	0	5217	72	3	4	2113	4	ERC1	12	1292505	Missense_Mutation	SNP	A	TCGA-WZ-A8D5-01A-11D-A435-10		1292505	132559390	27	7982											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	14	8	11	1	2	2	1	1	1	1	4	3	3	2	2	0	3	3	2	0	3	4	rs121913240		TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron	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)																											p.Q61R	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,+1,429	KRAS_ENST00000256078	1	429	141	Substitution - Missense(141)	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)	c.A182G												109	97	101					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	exon3	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	TCCTCTTGACCTG	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		101	0	0		152	0.07	11	NM_004985	86	0.02	2	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	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		C	25380276	T	C	25380276	3	2	107	1	0	0	0	0	1	0	0	0	8453	1812	63	4	520	4	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-WZ-A8D5-01A-11D-A435-10	24087771	25380276	108471619	28	7983											
VDR	7421	mdanderson.org	37	chr12	48240170	48240170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgctcctcctcatgcaaGttcagcttcttcagtcccac	8	12	5	16	0	4	0	3	0	1	0	7	0	7	0	3	0	3	4	3	0	1	3			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr12:48240170G>T	ENST00000395324.2	-	9	1240	c.972C>A	c.(970-972)aaC>aaA	p.N324K	VDR_ENST00000229022.3_Missense_Mutation_p.N324K|VDR_ENST00000549336.1_Missense_Mutation_p.N324K|VDR_ENST00000550325.1_Missense_Mutation_p.N374K|VDR_ENST00000535672.1_Missense_Mutation_p.N292K			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	324	Ligand-binding.				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)	CCTCATGCAAGTTCAGCTTCT	0.612																																					p.N374K													.	.			0			c.C1122A												65	40	49					12																	48240170		2202	4299	6501	SO:0001583	missense	7421	exon9			ATGCAAGTTCAGC	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.972C>A	12.37:g.48240170G>T	ENSP00000378734:p.Asn324Lys		45	0	0		36	0.08	3	NM_001017536	2	0	0	B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848285	0.51164	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02	5.23	2.41	0.29592	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.043026	0.85682	D	0.000000	D	0.92251	0.7542	L	0.41961	1.31	0.52501	D	0.999955	B;B;P	0.38420	0.018;0.004;0.63	B;B;B	0.38985	0.081;0.081;0.287	D	0.86558	0.1839	10	0.12103	T	0.63	.	9.6112	0.39663	0.2313:0.0:0.7687:0.0	.	292;324;374	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	K	324;324;324;374;292	ENSP00000378734:N324K;ENSP00000229022:N324K;ENSP00000449573:N324K;ENSP00000447173:N374K;ENSP00000442145:N292K	ENSP00000229022:N324K	N	-	3	2	VDR	46526437	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.887000	0.39698	0.315000	0.23110	0.655000	0.94253	AAC			0.612	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406433.1				T	48240170	G	T	48240170	3	4	107	1	0	0	0	0	1	0	0	0	17173	1020	36	3	319	3	VDR	12	48240170	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	22859894	48240170	85611725	29	7984											
KRT84	3890	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	52779018	52779018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaccaaagccagggccacCaaagccatagccaatgccac	15	3	8	15	0	0	0	0	0	0	0	0	0	0	0	7	1	5	1	7	1	5	2			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr12:52779018C>T	ENST00000257951.3	-	1	418	c.352G>A	c.(352-354)Ggt>Agt	p.G118S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	118	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGGGCCACCAAAGCCATAG	0.572																																					p.G118S													.	.			0			c.G352A												175	166	169					12																	52779018		2203	4300	6503	SO:0001583	missense	3890	exon1			GGCCACCAAAGCC	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.352G>A	12.37:g.52779018C>T	ENSP00000257951:p.Gly118Ser		117	0	0		94	0.07	7	NM_033045	0		0	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228490	0.22542	.	.	ENSG00000161849	ENST00000257951	D	0.97906	-4.6	5.15	0.113	0.14631	.	0.547242	0.16856	N	0.196738	D	0.95414	0.8511	M	0.84948	2.725	0.37833	D	0.928801	P	0.42735	0.788	B	0.33392	0.163	D	0.91024	0.4859	10	0.44086	T	0.13	.	5.5379	0.17021	0.2416:0.5618:0.0:0.1966	.	118	Q9NSB2	KRT84_HUMAN	S	118	ENSP00000257951:G118S	ENSP00000257951:G118S	G	-	1	0	KRT84	51065285	0.005000	0.15991	0.026000	0.17262	0.480000	0.33159	0.282000	0.18829	-0.066000	0.12998	0.609000	0.83330	GGT			0.572	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405187.1		NM_033045		T	52779018	C	T	52779018	3	4	107	1	0	0	0	0	1	0	0	0	8513	594	21	3	1486	3	KRT84	12	52779018	Missense_Mutation	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	4538848	52779018	81072877	30	7985											
CCDC41	51134	hgsc.bcm.edu	37	chr12	94796963	94796963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttcatctagattcctaaAacgttctctcattggagttt	10	17	5	9	1	4	1	2	0	2	1	6	2	5	2	1	1	2	2	1	1	4	8			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr12:94796963A>G	ENST00000397809.5	-	5	949	c.400T>C	c.(400-402)Ttt>Ctt	p.F134L	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.F101L|CCDC41_ENST00000547575.1_Missense_Mutation_p.F134L|CCDC41_ENST00000339839.5_Missense_Mutation_p.F134L	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		126					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						AGATTCCTAAAACGTTCTCTC	0.333																																					p.F134L													.	.			0			c.T400C												164	156	158					12																	94796963		1819	4080	5899	SO:0001583	missense	51134	exon5			TCCTAAAACGTTC																												ENST00000397809.5:c.400T>C	12.37:g.94796963A>G	ENSP00000380911:p.Phe134Leu		47	0	0		65	0.06	4	NM_016122	19	0	0	A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704663	0.30232	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;D	0.87809	0.91;0.91;0.91;-2.3	5.36	5.36	0.76844	.	.	.	.	.	D	0.83321	0.5229	L	0.60455	1.87	0.32215	N	0.575963	B;B;B	0.12013	0.002;0.005;0.001	B;B;B	0.11329	0.004;0.006;0.003	T	0.78069	-0.2348	9	0.09843	T	0.71	-3.3607	13.5815	0.61905	1.0:0.0:0.0:0.0	.	134;101;126	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	L	134;134;101;134	ENSP00000344655:F134L;ENSP00000380911:F134L;ENSP00000380909:F101L;ENSP00000448913:F134L	ENSP00000344655:F134L	F	-	1	0	CCDC41	93321094	1.000000	0.71417	0.804000	0.32291	0.847000	0.48162	5.443000	0.66581	2.036000	0.60181	0.477000	0.44152	TTT			0.333	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408147.3				G	94796963	A	G	94796963	3	3	107	1	0	0	0	0	1	0	0	0	2815	14	1	4	1757	4	CCDC41	12	94796963	Missense_Mutation	SNP	A	TCGA-WZ-A8D5-01A-11D-A435-10	42017945	94796963	39054932	31	7986											
STOML3	161003	mdanderson.org	37	chr13	39542626	39542626	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatctttgatttccactcGggccacccggatcccccaca	9	9	6	17	2	1	1	0	1	1	0	4	2	3	2	5	2	1	0	5	2	1	2	rs202188494		TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr13:39542626G>T	ENST00000379631.4	-	6	906	c.562C>A	c.(562-564)Cga>Aga	p.R188R	STOML3_ENST00000423210.1_Silent_p.R179R	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	188					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)		ATTTCCACTCGGGCCACCCGG	0.502																																					p.R188R													STOML3,NS,carcinoma,+1,2	STOML3	1	2	0			c.C562A												96	97	96					13																	39542626		2203	4300	6503	SO:0001819	synonymous_variant	161003	exon6			CCACTCGGGCCAC	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.562C>A	13.37:g.39542626G>T			75	0	0		47	0.06	3	NM_145286	0		0	B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	CCDS9367.1																																																																																					0.502	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000044604.2				T	39542626	G	T	39542626	2	4	107	1	0	0	0	0	0	0	0	1	15338	1124	39	1		1	STOML3	13	39542626	Silent	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		39542626	75627252	32	7987											
LRCH1	23143	mdanderson.org	37	chr13	47275277	47275277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataagttcatccaaagatcaGgacatggatatagcaatgat	17	10	8	6	0	2	2	2	1	0	1	3	4	3	4	1	2	1	2	1	2	5	4			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr13:47275277G>T	ENST00000389798.3	+	11	1532	c.1335G>T	c.(1333-1335)caG>caT	p.Q445H	LRCH1_ENST00000389797.3_Missense_Mutation_p.Q445H|LRCH1_ENST00000311191.6_Missense_Mutation_p.Q445H	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	445										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CCAAAGATCAGGACATGGATA	0.378																																					p.Q445H													LRCH1_ENST00000311191,NS,lymphoid_neoplasm,+1,2	LRCH1_ENST00000311191	1	2	0			c.G1335T												212	177	189					13																	47275277		2203	4300	6503	SO:0001583	missense	23143	exon11			AGATCAGGACATG	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1335G>T	13.37:g.47275277G>T	ENSP00000374448:p.Gln445His		68	0	0		41	0.07	3	NM_001164211	12	0	0	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442034	0.63067	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.55052	0.54;0.59;0.56	6.03	3.98	0.46160	.	0.330345	0.32430	N	0.006105	T	0.62024	0.2394	M	0.67953	2.075	0.37125	D	0.900974	P;P;D;P	0.55800	0.954;0.828;0.973;0.943	P;P;P;P	0.56823	0.646;0.652;0.807;0.547	T	0.68777	-0.5319	10	0.51188	T	0.08	-9.2254	9.5703	0.39425	0.1844:0.0:0.8156:0.0	.	445;445;445;445	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	H	445	ENSP00000308493:Q445H;ENSP00000374448:Q445H;ENSP00000374447:Q445H	ENSP00000308493:Q445H	Q	+	3	2	LRCH1	46173278	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	1.039000	0.30266	1.528000	0.49103	0.655000	0.94253	CAG			0.378	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000044824.2		NM_015116		T	47275277	G	T	47275277	3	4	107	1	0	0	0	0	1	0	0	0	8948	991	35	3	1377	3	LRCH1	13	47275277	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	7732651	47275277	67894601	33	7988											
SUGT1	10910	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	53239790	53239791	+	Frame_Shift_Del	DEL	AG	AG	-																															aggtatgactggtatcaaacAgaatctcaagtagtcattac																										TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr13:53239790_53239791delAG	ENST00000343788.6	+	10	619_620	c.537_538delAG	c.(535-540)acagaafs	p.E180fs	SUGT1_ENST00000535397.1_Frame_Shift_Del_p.E92fs|SUGT1_ENST00000310528.8_Frame_Shift_Del_p.E148fs	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	180	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GGTATCAAACAGAATCTCAAGT	0.282																																					p.179_179del													.	SUGT1	37		0			c.536_537del																																									SO:0001589	frameshift_variant	10910	exon10			TCAAACAGAATCT	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.537_538delAG	13.37:g.53239790_53239791delAG	ENSP00000367208:p.Glu180fs		197	0	0		146	0.15	22	NM_001130912	61	0	0	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Frame_Shift_Del	DEL	ENST00000343788.6	37	CCDS45050.1																																																																																					0.282	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045104.2				-	53239791	AG	-	53239790	7	5	107	1	0	1	0	1	0	0	0	0	15392	175	7	0	575	0	SUGT1	13	53239790	Frame_Shift_Del	DEL	AG	TCGA-WZ-A8D5-01A-11D-A435-10	5964513	53239790	61930088	34	7989											
F7	2155	mdanderson.org	37	chr13	113770083	113770083	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccacgaggggtactctctGctggcagacggggtgtcctg	5	9	16	11	2	1	1	0	0	1	1	3	2	2	1	2	5	3	3	2	5	1	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr13:113770083G>T	ENST00000375581.3	+	6	575	c.540G>T	c.(538-540)ctG>ctT	p.L180L	F7_ENST00000541084.1_Silent_p.L111L|F7_ENST00000346342.3_Silent_p.L158L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	180	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	GGTACTCTCTGCTGGCAGACG	0.597																																					p.L180L													.	.			0			c.G540T												64	55	58					13																	113770083		2203	4300	6503	SO:0001819	synonymous_variant	2155	exon6			CTCTCTGCTGGCA		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.540G>T	13.37:g.113770083G>T			93	0	0		44	0.07	3	NM_000131	0		0	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	CCDS9528.1																																																																																					0.597	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045838.4		NM_000131		T	113770083	G	T	113770083	2	4	107	1	0	0	0	0	0	0	0	1	5356	1306	46	2		2	F7	13	113770083	Silent	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	60530293	113770083	1399795	35	7990											
GPHB5	122876	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	63779821	63779821	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaatataggggggttccaGaatgggtttctgtccccata	9	13	11	8	0	2	1	1	0	1	1	4	1	4	1	3	4	0	2	3	4	5	6			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr14:63779821G>A	ENST00000539258.1	-	0	269							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GGGGGTTCCAGAATGGGTTTC	0.428																																					.													.	GPHB5	57		0			.												64	68	67					14																	63779821		1866	4119	5985			122876	.			GTTCCAGAATGGG	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63779821G>A			201	0.0049751244	1		209	0.17	36	.	0		0	Q6NTD0|Q8NFW2	RNA	SNP	ENST00000539258.1	37																																																																																						0.428	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000400582.1		NM_145171		A	63779821	G	A	63779821	1	1	107	0	1	0	0	0	0	0	0	0	6623	933	33	3		3	GPHB5	14	63779821	RNA	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		63779821	43569719	36	7991											
CREBBP	1387	bcgsc.ca	37	chr16	3777942	3777942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtggtgtggcgaaggctggGgctgtatccgtggtgacggg	4	9	21	7	4	0	1	0	1	0	0	1	2	1	1	1	7	0	3	1	7	2	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr16:3777942G>T	ENST00000262367.5	-	31	7915	c.7106C>A	c.(7105-7107)cCc>cAc	p.P2369H	CREBBP_ENST00000382070.3_Missense_Mutation_p.P2331H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2369					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)		CGAAGGCTGGGGCTGTATCCG	0.647			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.P2369H				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	CREBBP,colon,carcinoma,+1,2	CREBBP	546	2	0			c.C7106A												99	96	97					16																	3777942		2197	4300	6497	SO:0001583	missense	1387	exon31			GGCTGGGGCTGTA	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.7106C>A	16.37:g.3777942G>T	ENSP00000262367:p.Pro2369His		67	0	0		44	0.09	4	NM_004380	224	0	0	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.025950	0.35701	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.88896	-2.44;-2.38	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.91758	0.7393	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.92661	0.6141	10	0.87932	D	0	-17.1236	18.4232	0.90598	0.0:0.0:1.0:0.0	.	2399;2369	Q4LE28;Q92793	.;CBP_HUMAN	H	2369;2399;2331;904	ENSP00000262367:P2369H;ENSP00000371502:P2331H	ENSP00000262367:P2369H	P	-	2	0	CREBBP	3717943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.705000	0.98719	2.668000	0.90789	0.655000	0.94253	CCC			0.647	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251591.2		NM_004380		T	3777942	G	T	3777942	3	4	107	1	0	0	0	0	1	0	0	0	3863	1232	43	3	226	3	CREBBP	16	3777942	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		3777942	86576811	37	7992											
XYLT1	64131	mdanderson.org	37	chr16	17228331	17228331	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcccatatagggctcaccGgcagctgttctccccatccg	7	9	8	17	2	2	0	1	0	1	0	5	0	4	0	5	2	1	4	5	2	2	3			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr16:17228331G>A	ENST00000261381.6	-	9	2110	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	676					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGGCTCACCGGCAGCTGTTC	0.602																																					p.R676X													.	.			0			c.C2026T												52	49	50					16																	17228331		2196	4300	6496	SO:0001630	splice_region_variant	64131	exon9			CTCACCGGCAGCT	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2027+1C>T	16.37:g.17228331G>A			31	0	0		24	0.08	2	NM_022166	2	0	0	Q9H1B6	Nonsense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	40	8.331177	0.98764	.	.	ENSG00000103489	ENST00000261381	.	.	.	5.33	-7.87	0.01183	.	0.142669	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.298	17.585	0.87979	0.0:0.0626:0.7505:0.1869	.	.	.	.	X	676	.	ENSP00000261381:R676X	R	-	1	2	XYLT1	17135832	0.620000	0.27068	0.934000	0.37439	0.871000	0.50021	-0.331000	0.07914	-1.119000	0.02958	0.561000	0.74099	CGA			0.602	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252241.2		NM_022166	Nonsense_Mutation	A	17228331	G	A	17228331	5	1	107	1	0	0	0	0	0	0	1	0	17487	1130	39	1	869	1	XYLT1	16	17228331	Splice_Site	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	13450389	17228331	73126422	38	7993											
ACD	65057	mdanderson.org	37	chr16	67694279	67694279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcacgagggcgtcctgCtcgggggcctgtgtgcagac	4	7	17	13	4	0	1	0	0	0	1	2	2	1	1	2	3	3	3	2	3	0	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr16:67694279C>T	ENST00000393919.4	-	1	367	c.103G>A	c.(103-105)Gca>Aca	p.A35T	PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.A35T			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	35					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)		GGGCGTCCTGCTCGGGGGCCT	0.721																																					p.A35T													.	.			0			c.G103A												11	14	13					16																	67694279		2167	4277	6444	SO:0001583	missense	65057	exon1			GTCCTGCTCGGGG	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.103G>A	16.37:g.67694279C>T	ENSP00000377496:p.Ala35Thr		51	0	0		40	0.08	3	NM_001082487	0		0	Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599492	0.46318	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.36699	1.24;1.25	2.95	-5.89	0.02282	.	1.306880	0.05671	N	0.588663	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37572	-0.9700	10	0.87932	D	0	8.8505	8.9735	0.35921	0.0:0.4847:0.3197:0.1956	.	35;35	Q96AP0;Q96AP0-2	ACD_HUMAN;.	T	35	ENSP00000219251:A35T;ENSP00000377496:A35T	ENSP00000219251:A35T	A	-	1	0	ACD	66251780	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.079000	0.00045	-3.560000	0.00141	-1.263000	0.01449	GCA			0.721	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268880.1		NM_022914		T	67694279	C	T	67694279	3	4	107	1	0	0	0	0	1	0	0	0	135	797	28	2	1579	2	ACD	16	67694279	Missense_Mutation	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	50465948	67694279	22660474	39	7994											
ZCCHC14	23174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	87451243	87451243	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctgagcccgcgctgccCgcatgggagcagtgaggcaa	8	4	17	12	3	0	2	0	2	0	0	0	3	0	3	2	3	3	5	2	3	1	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr16:87451243C>T	ENST00000268616.4	-	8	1012	c.795G>A	c.(793-795)gcG>gcA	p.A265A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	265							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CCGCGCTGCCCGCATGGGAGC	0.687																																					p.A265A													ZCCHC14,caecum,carcinoma,-1,2	ZCCHC14	-1	2	0			c.G795A												77	89	85					16																	87451243		2198	4300	6498	SO:0001819	synonymous_variant	23174	exon8			GCTGCCCGCATGG	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.795G>A	16.37:g.87451243C>T			74	0	0		47	0.13	6	NM_015144	6	0	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	CCDS10961.1																																																																																					0.687	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269107.1		NM_015144		T	87451243	C	T	87451243	2	4	107	1	0	0	0	0	0	0	0	1	17606	639	23	1		1	ZCCHC14	16	87451243	Silent	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	19756964	87451243	2903510	40	7995											
RNMTL1	51031	mdanderson.org	37	chr17	686391	686391	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatcctgctggaaggtcGcaggctcatttcagacgctc	9	9	12	11	2	2	2	2	0	0	2	5	4	3	3	1	3	1	4	1	3	2	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr17:686391G>A	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Missense_Mutation_p.R128H|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTGGAAGGTCGCAGGCTCATT	0.428																																					p.R128H													.	.			0			c.G383A												90	82	85					17																	686391		2203	4300	6503	SO:0001631	upstream_gene_variant	55178	exon2			AAGGTCGCAGGCT	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			17.37:g.686391G>A	Exception_encountered		91	0	0		48	0.06	3	NM_018146	45	0	0	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.11|17.11	3.306596|3.306596	0.60305|0.60305	.|.	.|.	ENSG00000171861|ENSG00000167699	ENST00000304478|ENST00000397393	T|.	0.33438|.	1.41|.	5.41|5.41	3.42|3.42	0.39159|0.39159	RNA 2-O ribose methyltransferase, substrate binding (2);|.	0.111096|0.111096	0.64402|0.64402	D|D	0.000010|0.000010	T|.	0.53174|.	0.1780|.	M|M	0.74881|0.74881	2.28|2.28	0.45594|0.45594	D|D	0.998538|0.998538	P|.	0.48503|.	0.911|.	P|.	0.48552|.	0.581|.	T|.	0.52268|.	-0.8598|.	10|.	0.15952|0.02654	T|T	0.53|1	-8.4777|-8.4777	5.2126|5.2126	0.15325|0.15325	0.2251:0.0:0.6217:0.1531|0.2251:0.0:0.6217:0.1531	.|.	128|.	Q9HC36|.	RMTL1_HUMAN|.	H|X	128|39	ENSP00000306080:R128H|.	ENSP00000306080:R128H|ENSP00000380548:R39X	R|R	+|-	2|1	0|2	RNMTL1|GLOD4	633141|633141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.417000|2.417000	0.44653|0.44653	1.287000|1.287000	0.44583|0.44583	0.650000|0.650000	0.86243|0.86243	CGC|CGA			0.428	GLOD4-005	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000437190.1		NM_016080		A	686391	G	A	686391	1	1	107	0	1	0	0	0	0	0	0	0	13530	1087	38	1		1	RNMTL1	17	686391	5'Flank	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		686391	80508819	41	7996											
AMAC1L3	643664	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	7386120	7386120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacatgtgtgagctatGcggtcaccaaggcccaccct	8	9	9	15	1	2	1	2	1	0	0	2	1	2	1	4	2	2	1	4	2	2	2			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr17:7386120G>C	ENST00000412468.2	+	2	932	c.817G>C	c.(817-819)Gcg>Ccg	p.A273P	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	273	EamA 2.					integral component of membrane (GO:0016021)											TGTGAGCTATGCGGTCACCAA	0.597																																					p.A273P													.	.			0			c.G817C												143	120	127					17																	7386120		2203	4300	6503	SO:0001583	missense	643664	exon2			AGCTATGCGGTCA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.817G>C	17.37:g.7386120G>C	ENSP00000396523:p.Ala273Pro		157	0	0		119	0.08	9	NM_001102614	0		0		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761628	0.49468	.	.	ENSG00000181222	ENST00000412468	T	0.77877	-1.13	4.06	3.06	0.35304	.	.	.	.	.	T	0.81064	0.4745	L	0.32530	0.975	0.52501	D	0.999952	D	0.89917	1.0	D	0.91635	0.999	T	0.81651	-0.0836	9	0.87932	D	0	-6.6496	12.1191	0.53882	0.0:0.0:0.8265:0.1735	.	273	P0C7Q6	S35G6_HUMAN	P	273	ENSP00000396523:A273P	ENSP00000396523:A273P	A	+	1	0	SLC35G6	7326844	1.000000	0.71417	0.970000	0.41538	0.083000	0.17756	5.834000	0.69361	0.806000	0.34183	0.467000	0.42956	GCG			0.597	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001102614		C	7386120	G	C	7386120	3	2	107	1	0	0	0	0	1	0	0	0	561	1319	46	5	823	5	AMAC1L3	17	7386120	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	6699729	7386120	73809090	42	7997											
TMEM132E	124842	mdanderson.org	37	chr17	32962085	32962085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgctggcaggactggaGccaggcaccaccccctttaa	10	5	11	15	1	0	0	0	0	0	0	0	2	0	2	4	4	2	4	4	4	1	2			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr17:32962085G>T	ENST00000321639.5	+	8	2014	c.1686G>T	c.(1684-1686)gaG>gaT	p.E562D		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	562						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGGACTGGAGCCAGGCACCA	0.592																																					p.E562D													.	.			0			c.G1686T												37	33	35					17																	32962085		2203	4300	6503	SO:0001583	missense	124842	exon8			ACTGGAGCCAGGC	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1686G>T	17.37:g.32962085G>T	ENSP00000316532:p.Glu562Asp		79	0	0		36	0.08	3	NM_207313	0		0	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586166	0.66105	.	.	ENSG00000181291	ENST00000321639	T	0.52295	0.67	5.22	5.22	0.72569	.	0.047676	0.85682	D	0.000000	T	0.60996	0.2312	L	0.56280	1.765	0.58432	D	0.999997	D	0.71674	0.998	D	0.77557	0.99	T	0.58239	-0.7671	10	0.42905	T	0.14	-35.4812	11.3889	0.49802	0.0819:0.0:0.9181:0.0	.	562	Q6IEE7	T132E_HUMAN	D	562	ENSP00000316532:E562D	ENSP00000316532:E562D	E	+	3	2	TMEM132E	29986198	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.666000	0.46799	2.725000	0.93324	0.498000	0.49722	GAG			0.592	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256440.2		NM_207313		T	32962085	G	T	32962085	3	4	107	1	0	0	0	0	1	0	0	0	16071	962	34	2	1716	2	TMEM132E	17	32962085	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	25575965	32962085	48233125	43	7998											
STARD3	10948	mdanderson.org	37	chr17	37817269	37817269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgcattgagcggcgcaGggaccgatacttgtcatcag	8	7	14	12	5	2	1	2	1	0	0	2	3	2	2	2	3	2	2	2	3	1	3			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr17:37817269G>T	ENST00000336308.5	+	13	1288	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	STARD3_ENST00000580611.1_Missense_Mutation_p.R331M|STARD3_ENST00000544210.2_Missense_Mutation_p.R357M|STARD3_ENST00000394250.4_Missense_Mutation_p.R339M	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	357	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				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)			GAGCGGCGCAGGGACCGATAC	0.602																																					p.R357M													.	.			0			c.G1070T												80	67	71					17																	37817269		2203	4300	6503	SO:0001583	missense	10948	exon13			GGCGCAGGGACCG		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.1070G>T	17.37:g.37817269G>T	ENSP00000337446:p.Arg357Met		74	0	0		46	0.07	3	NM_006804	86	0	0	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979884	0.74360	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	D;D;D	0.83914	-1.78;-1.78;-1.78	5.02	4.03	0.46877	Lipid-binding START (3);START-like domain (1);	0.418647	0.27126	N	0.020814	T	0.79770	0.4503	L	0.51422	1.61	0.48696	D	0.999691	D;P;P;D;P	0.57257	0.963;0.948;0.553;0.979;0.913	B;P;B;P;B	0.45639	0.446;0.488;0.359;0.473;0.353	T	0.79664	-0.1709	10	0.59425	D	0.04	.	9.9917	0.41874	0.1585:0.0:0.8415:0.0	.	357;122;357;339;357	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	M	357;357;339	ENSP00000337446:R357M;ENSP00000439869:R357M;ENSP00000377794:R339M	ENSP00000337446:R357M	R	+	2	0	STARD3	35070795	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.530000	0.53539	1.095000	0.41419	0.561000	0.74099	AGG			0.602	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256933.1				T	37817269	G	T	37817269	3	4	107	1	0	0	0	0	1	0	0	0	15280	1000	35	3	1129	3	STARD3	17	37817269	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	4855184	37817269	43377941	44	7999											
GRB7	2886	mdanderson.org	37	chr17	37903113	37903113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccgcggcatcctgccgtGcttgctgcgccattgctgca	5	9	12	15	4	0	0	0	0	0	0	1	1	1	0	4	1	7	5	4	1	1	2			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr17:37903113G>T	ENST00000309156.4	+	15	1819	c.1562G>T	c.(1561-1563)tGc>tTc	p.C521F	GRB7_ENST00000394211.3_Missense_Mutation_p.C521F|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394209.2_Missense_Mutation_p.C521F|GRB7_ENST00000445327.2_Missense_Mutation_p.C544F|GRB7_ENST00000309185.3_3'UTR	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	521	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			ATCCTGCCGTGCTTGCTGCGC	0.672																																					p.C544F													.	.			0			c.G1631T												73	56	62					17																	37903113		2203	4300	6503	SO:0001583	missense	2886	exon15			TGCCGTGCTTGCT	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.1562G>T	17.37:g.37903113G>T	ENSP00000310771:p.Cys521Phe		35	0	0		22	0.14	3	NM_001242442	36	0	0	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056745	0.55325	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.89	4.89	0.63831	SH2 motif (2);	0.116521	0.64402	D	0.000018	T	0.66187	0.2764	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.70945	-0.4734	10	0.87932	D	0	-31.2092	16.9765	0.86314	0.0:0.0:1.0:0.0	.	521	Q14451	GRB7_HUMAN	F	521;521;521;544	ENSP00000310771:C521F;ENSP00000377761:C521F;ENSP00000377759:C521F;ENSP00000403459:C544F	ENSP00000310771:C521F	C	+	2	0	GRB7	35156639	1.000000	0.71417	0.229000	0.23960	0.308000	0.27856	7.559000	0.82265	2.541000	0.85698	0.655000	0.94253	TGC			0.672	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257024.2		NM_005310		T	37903113	G	T	37903113	3	4	107	1	0	0	0	0	1	0	0	0	6774	1319	46	2	1616	2	GRB7	17	37903113	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	85844	37903113	43292097	45	8000											
KRTAP1-1	81851	hgsc.bcm.edu;broad.mit.edu	37	chr17	39197304	39197304	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgggcggcaccacctgaTacgggtgctcacagctccac	7	7	12	15	2	2	1	1	1	1	0	3	1	3	1	3	3	3	3	3	3	1	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr17:39197304T>C	ENST00000306271.4	-	1	409	c.346A>G	c.(346-348)Atc>Gtc	p.I116V		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	116						keratin filament (GO:0045095)		p.I116V(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACCACCTGATACGGGTGCTC	0.662																																					p.I116V													KRTAP1-1,NS,malignant_melanoma,0,1	KRTAP1-1	0	1	1	Substitution - Missense(1)	NS(1)	c.A346G												22	27	25					17																	39197304		2019	4148	6167	SO:0001583	missense	81851	exon1			ACCTGATACGGGT	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.346A>G	17.37:g.39197304T>C	ENSP00000305975:p.Ile116Val		75	0.0133333333	1		70	0.04	3	NM_030967	0		0	A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	8.173	0.792133	0.16258	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.29655	1.56	4.28	-1.23	0.09465	.	.	.	.	.	T	0.12135	0.0295	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.20046	T	0.44	.	9.4726	0.38851	0.0:0.573:0.0:0.427	.	116	Q07627	KRA11_HUMAN	V	116;106	ENSP00000305975:I116V	ENSP00000305975:I116V	I	-	1	0	KRTAP1-1	36450830	0.132000	0.22450	0.024000	0.17045	0.516000	0.34256	0.017000	0.13399	-0.199000	0.10317	0.529000	0.55759	ATC			0.662	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257696.1		NM_030967		C	39197304	T	C	39197304	3	2	107	1	0	0	0	0	1	0	0	0	8517	1406	49	4	191	4	KRTAP1-1	17	39197304	Missense_Mutation	SNP	T	TCGA-WZ-A8D5-01A-11D-A435-10	1294191	39197304	41997906	46	8001											
TMC6	11322	mdanderson.org	37	chr17	76120700	76120700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgatgaaggccaccaGcagcagcagcaggagggcat	12	3	14	12	0	0	2	0	2	0	0	0	3	0	3	3	3	4	5	3	3	1	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr17:76120700G>C	ENST00000590602.1	-	8	955	c.796C>G	c.(796-798)Ctg>Gtg	p.L266V	TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Missense_Mutation_p.L266V|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000589553.1_Missense_Mutation_p.L39V|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000306591.7_Missense_Mutation_p.L266V|TMC6_ENST00000392467.3_Missense_Mutation_p.L266V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	266				L -> P (in Ref. 2; AAP69874). {ECO:0000305}.	ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGGCCACCAGCAGCAGCAGC	0.672																																					p.L266V													.	.			0			c.C796G												19	19	19					17																	76120700		2183	4244	6427	SO:0001583	missense	11322	exon8			CCACCAGCAGCAG	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.796C>G	17.37:g.76120700G>C	ENSP00000465261:p.Leu266Val		58	0	0		31	0.1	3	NM_001127198	40	0	0	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650996	0.29336	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.54279	0.58;0.58;0.58	3.64	1.38	0.22167	.	1.022600	0.07798	N	0.955959	T	0.53498	0.1800	L	0.53249	1.67	0.33038	D	0.531028	P;D;D;D;B	0.58268	0.713;0.981;0.981;0.982;0.23	B;P;P;P;B	0.57101	0.246;0.813;0.761;0.664;0.082	T	0.56974	-0.7890	10	0.06891	T	0.86	-10.1151	4.5808	0.12257	0.211:0.184:0.605:0.0	.	103;266;39;266;266	B4E003;Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;.;TMC6_HUMAN	V	266	ENSP00000313408:L266V;ENSP00000376260:L266V;ENSP00000306405:L266V	ENSP00000306405:L266V	L	-	1	2	TMC6	73632295	0.228000	0.23718	0.981000	0.43875	0.146000	0.21551	0.651000	0.24873	0.497000	0.27926	0.462000	0.41574	CTG			0.672	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437146.1				C	76120700	G	C	76120700	3	2	107	1	0	0	0	0	1	0	0	0	16012	962	34	5	1673	5	TMC6	17	76120700	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	36923396	76120700	5074510	47	8002											
TSPAN10	83882	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	79612648	79612648	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctaccaggactggcagCagaacctgtgagtcttggag	9	8	12	12	0	1	2	0	1	1	1	2	4	2	4	4	3	3	2	4	3	2	2			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr17:79612648C>T	ENST00000572675.1	+	0	667				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGACTGGCAGCAGAACCTGTG	0.627																																					.													.	TSPAN10	21		0			.												21	24	23					17																	79612648		2165	4254	6419			83882	.			TGGCAGCAGAACC	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"Tetraspanins"	29942	protein-coding gene	gene with protein product	"oculospanin"					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612648C>T			40	0	0		32	0.13	4	.	4	0	0	Q8N548	RNA	SNP	ENST00000572675.1	37		.	.	.	.	.	.	.	.	.	.	C	13.44	2.236791	0.39498	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	.	.	.	4.15	-4.36	0.03645	.	1.915610	0.02819	N	0.125393	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1148	1.4273	0.02326	0.3853:0.1496:0.2978:0.1673	.	.	.	.	X	223	.	ENSP00000331620:Q223X	Q	+	1	0	TSPAN10	77223053	0.000000	0.05858	0.290000	0.24890	0.937000	0.57800	-1.251000	0.02882	-0.571000	0.06014	0.462000	0.41574	CAG			0.627	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000440313.1		NM_031945		T	79612648	C	T	79612648	1	4	107	0	1	0	0	0	0	0	0	0	16658	711	25	2		2	TSPAN10	17	79612648	RNA	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	3491948	79612648	1582562	48	8003											
DOT1L	84444	mdanderson.org	37	chr19	2216567	2216567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagcagaacacgccccaGtacctggcctcacccctgga	10	5	9	17	2	1	1	1	0	0	1	2	3	1	2	6	2	3	2	6	2	3	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr19:2216567G>T	ENST00000398665.3	+	20	2247	c.2211G>T	c.(2209-2211)caG>caT	p.Q737H	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	737					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)	p.Q737H(2)		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)		ACACGCCCCAGTACCTGGCCT	0.672																																					p.Q737H													DOT1L_ENST00000398665,NS,carcinoma,0,2	DOT1L_ENST00000398665	0	2	2	Substitution - Missense(2)	lung(2)	c.G2211T												39	46	44					19																	2216567		2061	4190	6251	SO:0001583	missense	84444	exon20			GCCCCAGTACCTG	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.2211G>T	19.37:g.2216567G>T	ENSP00000381657:p.Gln737His		21	0	0		29	0.1	3	NM_032482	51	0	0	O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.04|14.04	2.415346|2.415346	0.42817|0.42817	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.26373|.	1.74|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.141125|.	0.51477|.	D|.	0.000089|.	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.50333|0.50333	1.59|1.59	0.31230|0.31230	N|N	0.696427|0.696427	P;B|.	0.35272|.	0.493;0.065|.	B;B|.	0.32864|.	0.154;0.056|.	T|T	0.61282|0.61282	-0.7094|-0.7094	10|5	0.87932|.	D|.	0|.	-32.7438|-32.7438	15.481|15.481	0.75528|0.75528	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	737;737|.	Q8TEK3;Q8TEK3-2|.	DOT1L_HUMAN;.|.	H|I	737|524	ENSP00000381657:Q737H|.	ENSP00000221482:Q737H|.	Q|S	+|+	3|2	2|0	DOT1L|DOT1L	2167567|2167567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	1.788000|1.788000	0.38714|0.38714	2.437000|2.437000	0.82529|0.82529	0.655000|0.655000	0.94253|0.94253	CAG|AGT			0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318066.1		NM_032482		T	2216567	G	T	2216567	3	4	107	1	0	0	0	0	1	0	0	0	4714	1020	36	3	2289	3	DOT1L	19	2216567	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		2216567	56912416	49	8004											
DOT1L	84444	mdanderson.org	37	chr19	2226654	2226654	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctggacggcctggctggGctgaagggcgagggcagccg	6	4	20	11	3	0	1	0	1	0	0	0	3	0	2	2	6	2	4	2	6	1	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr19:2226654G>T	ENST00000398665.3	+	27	4170	c.4134G>T	c.(4132-4134)ggG>ggT	p.G1378G		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1378					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)		GCCTGGCTGGGCTGAAGGGCG	0.726																																					p.G1378G													.	.			0			c.G4134T												5	8	7					19																	2226654		1965	4053	6018	SO:0001819	synonymous_variant	84444	exon27			GGCTGGGCTGAAG	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.4134G>T	19.37:g.2226654G>T			12	0	0		15	0.2	3	NM_032482	58	0	0	O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	CCDS42460.1																																																																																					0.726	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318066.1		NM_032482		T	2226654	G	T	2226654	2	4	107	1	0	0	0	0	0	0	0	1	4714	1190	42	2		2	DOT1L	19	2226654	Silent	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	10087	2226654	56902329	50	8005											
SEMA6B	10501	mdanderson.org	37	chr19	4555566	4555566	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtctccgacgggctgcAgggtgtctatctgcagggac	5	11	15	10	2	3	0	0	0	3	0	4	2	3	1	1	3	2	4	1	3	1	2			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr19:4555566A>T	ENST00000586582.1	-	7	792	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	SEMA6B_ENST00000586965.1_Missense_Mutation_p.L161Q|SEMA6B_ENST00000301293.3_Missense_Mutation_p.L161Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	161	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)		GACGGGCTGCAGGGTGTCTAT	0.637																																					p.L161Q													.	.			0			c.T482A												88	79	82					19																	4555566		2203	4300	6503	SO:0001583	missense	10501	exon7			GGCTGCAGGGTGT	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.482T>A	19.37:g.4555566A>T	ENSP00000467290:p.Leu161Gln		85	0	0		47	0.06	3	NM_032108	21	0	0	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984065	0.53827	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.12147	2.71	3.06	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000007	T	0.40694	0.1127	M	0.92026	3.265	0.38117	D	0.937752	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.50808	-0.8784	10	0.87932	D	0	.	8.0509	0.30577	0.7953:0.2047:0.0:0.0	.	161;161	B4DT36;Q9H3T3	.;SEM6B_HUMAN	Q	161	ENSP00000301293:L161Q	ENSP00000301292:L161Q	L	-	2	0	SEMA6B	4506566	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	6.890000	0.75633	1.642000	0.50584	0.254000	0.18369	CTG			0.637	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458656.2		NM_032108		T	4555566	A	T	4555566	3	4	107	1	0	0	0	0	1	0	0	0	14063	188	7	5	2228	5	SEMA6B	19	4555566	Missense_Mutation	SNP	A	TCGA-WZ-A8D5-01A-11D-A435-10	2328912	4555566	54573417	51	8006											
KDM4B	23030	broad.mit.edu	37	chr19	5047517	5047517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaacatcgggagcctcCggaccatcctggacatggtg	9	7	14	11	2	0	0	0	0	0	0	3	4	2	4	4	5	2	0	4	5	1	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr19:5047517C>T	ENST00000159111.4	+	6	681	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.R155W|KDM4B_ENST00000381759.4_Missense_Mutation_p.R155W	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	155	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CGGGAGCCTCCGGACCATCCT	0.677																																					p.R155W													.	KDM4B	120		0			c.C463T												62	55	57					19																	5047517		2203	4300	6503	SO:0001583	missense	23030	exon6			AGCCTCCGGACCA	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.463C>T	19.37:g.5047517C>T	ENSP00000159111:p.Arg155Trp		74	0	0		83	0.04	3	NM_015015	12	0	0	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171626	0.78452	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71103	-0.54;-0.54;-0.54	4.32	-1.24	0.09435	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.214044	0.37304	N	0.002152	T	0.66499	0.2795	L	0.27053	0.805	0.34145	D	0.666813	D;D;D	0.69078	0.983;0.997;0.99	P;P;P	0.60236	0.447;0.871;0.747	T	0.71935	-0.4442	10	0.66056	D	0.02	-28.0822	9.1808	0.37141	0.6822:0.2157:0.1021:0.0	.	155;155;155	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	W	155	ENSP00000159111:R155W;ENSP00000371178:R155W;ENSP00000440495:R155W	ENSP00000159111:R155W	R	+	1	2	KDM4B	4998517	1.000000	0.71417	0.770000	0.31555	0.704000	0.40688	4.475000	0.60210	0.042000	0.15717	-0.274000	0.10170	CGG			0.677	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450558.1		NM_015015		T	5047517	C	T	5047517	3	4	107	1	0	0	0	0	1	0	0	0	8144	643	23	1	477	1	KDM4B	19	5047517	Missense_Mutation	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	491951	5047517	54081466	52	8007											
ZNF358	140467	mdanderson.org	37	chr19	7585211	7585211	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttcggccagagctcagcGctgctccagcacctgcacgt	6	7	11	17	3	1	1	1	0	0	1	3	1	2	1	4	1	5	5	4	1	0	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr19:7585211G>T	ENST00000597229.1	+	2	1253	c.1083G>T	c.(1081-1083)gcG>gcT	p.A361A	ZNF358_ENST00000394341.2_Silent_p.A361A|MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	361					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|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)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AGAGCTCAGCGCTGCTCCAGC	0.667																																					p.A361A													ZNF358,NS,carcinoma,+1,1	ZNF358	1	1	0			c.G1083T												46	48	47					19																	7585211		2203	4296	6499	SO:0001819	synonymous_variant	140467	exon2			CTCAGCGCTGCTC	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1083G>T	19.37:g.7585211G>T			34	0	0		27	0.11	3	NM_018083	90	0	0	Q9BTM7	Silent	SNP	ENST00000597229.1	37	CCDS32890.2																																																																																					0.667	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316747.1				T	7585211	G	T	7585211	2	4	107	1	0	0	0	0	0	0	0	1	17890	1074	38	1		1	ZNF358	19	7585211	Silent	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	2537694	7585211	51543772	53	8008											
EMP3	2014	mdanderson.org	37	chr19	48833719	48833719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctacatccacctacggaagCgggagtgagcgccccgcctc	8	6	11	16	4	1	1	0	1	1	0	3	3	2	3	5	2	4	0	5	2	3	2	rs564907309		TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr19:48833719C>T	ENST00000270221.6	+	5	785	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	EMP3_ENST00000597279.1_Missense_Mutation_p.R162W|EMP3_ENST00000596315.1_Missense_Mutation_p.R93W	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	162					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|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)		CCTACGGAAGCGGGAGTGAGc	0.692																																					p.R162W													.	.			0			c.C484T												24	24	24					19																	48833719		2203	4300	6503	SO:0001583	missense	2014	exon5			CGGAAGCGGGAGT	U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.484C>T	19.37:g.48833719C>T	ENSP00000270221:p.Arg162Trp		50	0	0		45	0.07	3	NM_001425	110	0	0	Q6FH01	Missense_Mutation	SNP	ENST00000270221.6	37	CCDS12715.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377978	0.61735	.	.	ENSG00000142227	ENST00000270221	D	0.96491	-4.03	4.41	4.41	0.53225	.	0.062517	0.64402	D	0.000012	D	0.95351	0.8491	M	0.63843	1.955	0.45594	D	0.998538	D	0.56287	0.975	P	0.46758	0.526	D	0.95308	0.8409	10	0.87932	D	0	.	12.0299	0.53392	0.1735:0.8265:0.0:0.0	.	162	P54852	EMP3_HUMAN	W	162	ENSP00000270221:R162W	ENSP00000270221:R162W	R	+	1	2	EMP3	53525531	1.000000	0.71417	0.999000	0.59377	0.566000	0.35808	1.081000	0.30791	2.449000	0.82847	0.561000	0.74099	CGG			0.692	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465613.1		NM_001425		T	48833719	C	T	48833719	3	4	107	1	0	0	0	0	1	0	0	0	5110	759	27	1	498	1	EMP3	19	48833719	Missense_Mutation	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	41248508	48833719	10295264	54	8009											
ALDH16A1	126133	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49967466	49967466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacgggacgccccgcggggGcagcgccagtgtgtggagcg	6	3	19	13	6	0	0	0	0	0	0	0	2	0	2	3	4	3	1	3	4	1	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr19:49967466G>A	ENST00000293350.4	+	10	1440	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.G263D|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.G261D|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.G375D	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	426						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCCGCGGGGGCAGCGCCAGT	0.701																																					p.G426D													.	.			0			c.G1277A												21	26	25					19																	49967466		2198	4297	6495	SO:0001583	missense	126133	exon10			GCGGGGGCAGCGC	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1277G>A	19.37:g.49967466G>A	ENSP00000293350:p.Gly426Asp		43	0	0		31	0.19	6	NM_153329	167	0.34	56	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335252	0.60853	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	4.75	3.71	0.42584	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.997173	0.08130	N	0.993342	T	0.78162	0.4240	L	0.50333	1.59	0.29404	N	0.861695	P;D;P	0.61080	0.715;0.989;0.87	P;P;P	0.53360	0.448;0.724;0.66	T	0.67730	-0.5595	10	0.72032	D	0.01	-14.5768	10.4995	0.44798	0.097:0.0:0.903:0.0	.	263;375;426	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	D	426;375;263;261	ENSP00000293350:G426D;ENSP00000410142:G375D;ENSP00000445088:G263D;ENSP00000398675:G261D	ENSP00000293350:G426D	G	+	2	0	ALDH16A1	54659278	0.997000	0.39634	0.974000	0.42286	0.459000	0.32528	1.101000	0.31037	0.993000	0.38866	0.305000	0.20034	GGC			0.701	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465358.1		NM_153329		A	49967466	G	A	49967466	3	1	107	1	0	0	0	0	1	0	0	0	488	1203	42	2	1315	2	ALDH16A1	19	49967466	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	1133747	49967466	9161517	55	8010											
KLK11	11012	broad.mit.edu	37	chr19	51528037	51528037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgatgatcctggtctcTccccctacaagccctggagg	6	10	9	16	0	1	2	0	2	1	0	4	3	3	3	5	3	2	0	5	3	2	2			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr19:51528037T>C	ENST00000594768.1	-	3	335	c.150A>G	c.(148-150)ggA>ggG	p.G50G	KLK11_ENST00000319720.7_Silent_p.G18G|KLK11_ENST00000453757.3_Silent_p.G18G|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Silent_p.G18G|KLK11_ENST00000594458.1_5'UTR	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	50						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TCCTGGTCTCTCCCCCTACAA	0.622																																					p.G50G													.	KLK11	28		0			c.A150G												30	25	27					19																	51528037		2202	4300	6502	SO:0001819	synonymous_variant	11012	exon3			GGTCTCTCCCCCT	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.150A>G	19.37:g.51528037T>C			89	0.0112359551	1		60	0.05	3	NM_144947	0		0	O75837|Q0WXX5|Q8IXD7|Q9NS65	Silent	SNP	ENST00000594768.1	37	CCDS12818.1																																																																																					0.622	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000464314.2		NM_006853		C	51528037	T	C	51528037	2	2	107	1	0	0	0	0	0	0	0	1	8414	1538	54	4		4	KLK11	19	51528037	Silent	SNP	T	TCGA-WZ-A8D5-01A-11D-A435-10	1560571	51528037	7600946	56	8011											
SPTLC3	55304	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	13107267	13107267	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattatttacgggttcactcGcatagtgctgtttatgcttc	7	17	9	8	2	1	0	1	0	0	0	3	1	1	0	0	1	3	5	0	1	4	8			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr20:13107267G>T	ENST00000399002.2	+	9	1456	c.1182G>T	c.(1180-1182)tcG>tcT	p.S394S	SPTLC3_ENST00000378194.4_Missense_Mutation_p.R321L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	394					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GGGTTCACTCGCATAGTGCTG	0.433																																					p.S394S													.	.			0			c.G1182T												275	254	260					20																	13107267		1913	4126	6039	SO:0001819	synonymous_variant	55304	exon9			TCACTCGCATAGT	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1182G>T	20.37:g.13107267G>T			124	0	0		106	0.05	5	NM_018327	1	0	0	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556102	0.27827	.	.	ENSG00000172296	ENST00000378194	D	0.95447	-3.71	6.17	-5.36	0.02689	.	.	.	.	.	D	0.91050	0.7184	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	D	0.83931	0.0306	6	0.72032	D	0.01	-12.236	1.7116	0.02893	0.2779:0.1784:0.3539:0.1898	.	.	.	.	L	321	ENSP00000367436:R321L	ENSP00000367436:R321L	R	+	2	0	SPTLC3	13055267	0.007000	0.16637	0.955000	0.39395	0.575000	0.36095	-1.139000	0.03213	-0.594000	0.05836	-0.781000	0.03364	CGC			0.433	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254544.1		NM_018327		T	13107267	G	T	13107267	2	4	107	1	0	0	0	0	0	0	0	1	15148	1074	38	1		1	SPTLC3	20	13107267	Silent	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		13107267	49918253	57	8012											
TOX2	84969	hgsc.bcm.edu	37	chr20	42694570	42694570	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgtccccgccgccgccAccctccttcccgctcagccc	3	6	8	24	5	1	0	1	0	0	0	4	0	4	0	9	0	2	1	9	0	0	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr20:42694570A>G	ENST00000358131.5	+	6	1333	c.1125A>G	c.(1123-1125)ccA>ccG	p.P375P	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Silent_p.P351P|TOX2_ENST00000423191.2_Silent_p.P351P|TOX2_ENST00000341197.4_Silent_p.P393P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	375	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCGCCGCCACCCTCCTTCC	0.716																																					p.P393P													TOX2_ENST00000348077,colon,carcinoma,0,2	TOX2_ENST00000348077	0	2	0			c.A1179G												29	31	30					20																	42694570		2199	4298	6497	SO:0001819	synonymous_variant	84969	exon7			GCCGCCACCCTCC	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1125A>G	20.37:g.42694570A>G			48	0	0		53	0.06	3	NM_001098797	18	0.11	2	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	CCDS42875.1																																																																																					0.716	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000079329.2				G	42694570	A	G	42694570	2	3	107	1	0	0	0	0	0	0	0	1	16402	146	6	4		4	TOX2	20	42694570	Silent	SNP	A	TCGA-WZ-A8D5-01A-11D-A435-10	29587303	42694570	20330950	58	8013											
SNAI1	6615	mdanderson.org	37	chr20	48600448	48600448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccccaccgcctcgctgcCaatgctcatctgggactctg	7	8	8	18	2	3	0	1	0	2	0	4	1	3	1	5	1	3	2	5	1	2	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr20:48600448C>A	ENST00000244050.2	+	2	231	c.170C>A	c.(169-171)cCa>cAa	p.P57Q		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	57					cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|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 (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|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 regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCCTCGCTGCCAATGCTCATC	0.642																																					p.P57Q													.	.			0			c.C170A												51	54	53					20																	48600448		2203	4300	6503	SO:0001583	missense	6615	exon2			CGCTGCCAATGCT	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.170C>A	20.37:g.48600448C>A	ENSP00000244050:p.Pro57Gln		52	0	0		44	0.07	3	NM_005985	92	0	0	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037882	0.75617	.	.	ENSG00000124216	ENST00000244050	T	0.25414	1.8	4.94	4.94	0.65067	.	0.204155	0.44097	D	0.000497	T	0.48624	0.1510	M	0.64997	1.995	0.50039	D	0.999847	D	0.76494	0.999	D	0.66716	0.946	T	0.48080	-0.9066	10	0.52906	T	0.07	-41.0002	18.1751	0.89759	0.0:1.0:0.0:0.0	.	57	O95863	SNAI1_HUMAN	Q	57	ENSP00000244050:P57Q	ENSP00000244050:P57Q	P	+	2	0	SNAI1	48033855	0.998000	0.40836	0.994000	0.49952	0.535000	0.34838	3.883000	0.56168	2.289000	0.77006	0.557000	0.71058	CCA			0.642	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080350.1				A	48600448	C	A	48600448	3	1	107	1	0	0	0	0	1	0	0	0	14849	594	21	3	176	3	SNAI1	20	48600448	Missense_Mutation	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	5905878	48600448	14425072	59	8014											
CEBPB	1051	mdanderson.org	37	chr20	48808332	48808332	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctacgcgggggccgcgccGgcgccctcgcaggtcaagag	5	4	17	15	7	1	1	1	0	0	1	2	1	1	1	3	4	2	2	3	4	2	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr20:48808332G>T	ENST00000303004.3	+	1	957	c.762G>T	c.(760-762)ccG>ccT	p.P254P		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	254					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 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)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			gggccgcgccggcgcccTCGC	0.716																																					p.P254P													.	.			0			c.G762T												16	17	17					20																	48808332		2170	4262	6432	SO:0001819	synonymous_variant	1051	exon1			CGCGCCGGCGCCC	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"basic leucine zipper proteins"	1834	protein-coding gene	gene with protein product	"liver-enriched transcriptional activator protein", "nuclear factor of interleukin 6", "interleukin 6-dependent DNA-binding protein"	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.762G>T	20.37:g.48808332G>T			25	0	0		28	0.11	3	NM_005194	92	0	0	A8K671|Q96IH2|Q9H4Z5	Silent	SNP	ENST00000303004.3	37	CCDS13429.1																																																																																					0.716	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079672.1		NM_005194		T	48808332	G	T	48808332	2	4	107	1	0	0	0	0	0	0	0	1	3202	1103	39	1		1	CEBPB	20	48808332	Silent	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	207884	48808332	14217188	60	8015											
ZDHHC8	29801	mdanderson.org	37	chr22	20128208	20128208	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggaatgtggagcacgtGctgtgtagccccctggcgcc	5	9	16	11	2	0	0	0	0	0	0	0	2	0	2	3	3	3	3	3	3	2	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr22:20128208G>T	ENST00000334554.7	+	6	870	c.729G>T	c.(727-729)gtG>gtT	p.V243V	ZDHHC8_ENST00000405930.3_Silent_p.V243V|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Silent_p.V151V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	243					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGGAGCACGTGCTGTGTAGCC	0.697																																					p.V243V													.	.			0			c.G729T												35	31	33					22																	20128208		2200	4300	6500	SO:0001819	synonymous_variant	29801	exon6			GCACGTGCTGTGT	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.729G>T	22.37:g.20128208G>T			51	0	0		46	0.07	3	NM_001185024	14	0	0	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	CCDS13776.1																																																																																					0.697	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318564.1		NM_013373		T	20128208	G	T	20128208	2	4	107	1	0	0	0	0	0	0	0	1	17644	1306	46	2		2	ZDHHC8	22	20128208	Silent	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10		20128208	31176358	61	8016											
HMGXB4	10042	hgsc.bcm.edu;bcgsc.ca	37	chr22	35661554	35661554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcatagtgaaaaaaaaaaGaaaaaagaagagaaggacaa	26	2	11	2	0	0	4	0	1	0	3	0	6	0	5	0	2	0	1	0	2	12	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chr22:35661554G>A	ENST00000216106.5	+	5	1301	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K	HMGXB4_ENST00000444518.2_Silent_p.K282K	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	391					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						Aaaaaaaaaagaaaaaagaag	0.493																																					p.K391K													.	.			0			c.G1173A												24	27	26					22																	35661554		2191	4290	6481	SO:0001819	synonymous_variant	10042	exon5			AAAAAAGAAAAAA	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1173G>A	22.37:g.35661554G>A			104	0	0		146	0.08	12	NM_001003681	32	0.03	1	O75672|O75673|Q9UMT5	Silent	SNP	ENST00000216106.5	37	CCDS33641.1																																																																																					0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318104.2		NM_005487		A	35661554	G	A	35661554	2	1	107	1	0	0	0	0	0	0	0	1	7254	933	33	3		3	HMGXB4	22	35661554	Silent	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	15533346	35661554	15643012	62	8017											
SPIN2B	474343	broad.mit.edu	37	chrX	57146615	57146615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttgagctaagaccaTccccctccattcatccttag	9	11	7	14	0	1	2	1	1	0	1	4	2	4	2	5	1	2	2	5	1	2	4			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chrX:57146615T>C	ENST00000333933.3	-	2	758	c.448A>G	c.(448-450)Atg>Gtg	p.M150V	SPIN2B_ENST00000460948.1_Intron|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000374912.5_Missense_Mutation_p.M150V|SPIN2B_ENST00000275988.5_Missense_Mutation_p.M150V|SPIN2B_ENST00000374910.3_Intron	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	150					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						GCTAAGACCATCCCCCTCCAT	0.408																																					p.M150V													.	SPIN2B	11		0			c.A448G												89	80	83					X																	57146615		2200	4294	6494	SO:0001583	missense	474343	exon2			AGACCATCCCCCT	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.448A>G	X.37:g.57146615T>C	ENSP00000335008:p.Met150Val		376	0.0026595745	1		406	0.01	6	NM_001006683	12	0	0	Q7Z2M0	Missense_Mutation	SNP	ENST00000333933.3	37	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	t	8.506	0.865304	0.17250	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000333933;ENST00000434397	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	2.37	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.33753	1.03	0.40170	D	0.97716	B	0.33694	0.421	B	0.37304	0.246	T	0.05852	-1.0860	10	0.23302	T	0.38	-23.7792	7.9777	0.30164	0.0:0.0:0.0:1.0	.	150	Q9BPZ2	SPI2B_HUMAN	V	150	ENSP00000275988:M150V;ENSP00000364047:M150V;ENSP00000335008:M150V;ENSP00000404314:M150V	ENSP00000275988:M150V	M	-	1	0	SPIN2B	57163340	1.000000	0.71417	0.997000	0.53966	0.667000	0.39255	6.542000	0.73869	1.215000	0.43411	0.143000	0.16000	ATG			0.408	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056912.1		NM_001006681		C	57146615	T	C	57146615	3	2	107	1	0	0	0	0	1	0	0	0	15077	1435	50	4	332	4	SPIN2B	23	57146615	Missense_Mutation	SNP	T	TCGA-WZ-A8D5-01A-11D-A435-10		57146615	98123945	63	8018											
AMMECR1	9949	mdanderson.org	37	chrX	109561071	109561071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccccccgccgccgccgcCgcagccctgggggggagaga	5	2	16	18	5	0	1	0	0	0	1	1	4	1	2	8	3	1	1	8	3	0	0			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chrX:109561071C>A	ENST00000262844.5	-	1	396	c.229G>T	c.(229-231)Ggc>Tgc	p.G77C	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000496695.1_5'Flank|AMMECR1_ENST00000372059.2_Missense_Mutation_p.G77C	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	77	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CCGCCGCCGCCGCAGCCCTGG	0.726																																					p.G77C													.	.			0			c.G229T												5	5	5					X																	109561071		1882	3732	5614	SO:0001583	missense	9949	exon1			CGCCGCCGCAGCC	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.229G>T	X.37:g.109561071C>A	ENSP00000262844:p.Gly77Cys		36	0.0277777778	1		50	0.08	4	NM_015365	12	0	0	Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.799024	0.50208	.	.	ENSG00000101935	ENST00000262844;ENST00000372059	.	.	.	4.29	3.42	0.39159	.	0.000000	0.49305	D	0.000153	T	0.48205	0.1487	L	0.29908	0.895	0.80722	D	1	P;P	0.49862	0.929;0.853	P;P	0.51777	0.679;0.599	T	0.32561	-0.9902	8	.	.	.	-0.7539	10.6389	0.45582	0.0:0.898:0.0:0.102	.	77;77	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	C	77	.	.	G	-	1	0	AMMECR1	109447727	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	2.031000	0.41117	0.744000	0.32741	0.271000	0.19318	GGC			0.726	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057907.1				A	109561071	C	A	109561071	3	1	107	1	0	0	0	0	1	0	0	0	578	652	23	1	796	1	AMMECR1	23	109561071	Missense_Mutation	SNP	C	TCGA-WZ-A8D5-01A-11D-A435-10	52414456	109561071	45709489	64	8019											
PDZD4	57595	mdanderson.org	37	chrX	153069641	153069641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgccggccatggcccgccGcagggggctctcgggcaggg	3	5	19	14	4	1	0	0	0	1	0	2	0	1	0	4	6	1	4	4	6	0	1			TCGA-WZ-A8D5-01A-11D-A435-10	TCGA-WZ-A8D5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f9769d8-ba26-4ac7-91c7-7ae0494130e7	928cb9ff-09c7-4a5f-bd42-198e31335976	g.chrX:153069641G>A	ENST00000164640.4	-	8	1668	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.R384W|PDZD4_ENST00000393758.2_Missense_Mutation_p.R418W	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	493						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					ATGGCCCGCCGCAGGGGGCTC	0.716																																					p.R493W													.	.			0			c.C1477T												8	9	9					X																	153069641		2155	4210	6365	SO:0001583	missense	57595	exon8			CCCGCCGCAGGGG	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1477C>T	X.37:g.153069641G>A	ENSP00000164640:p.Arg493Trp		38	0	0		21	0.14	3	NM_032512	8	0	0	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318537	0.40996	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.05139	3.49;3.49;3.7	5.15	-9.54	0.00572	.	0.355002	0.17233	U	0.181857	T	0.12008	0.0292	L	0.58810	1.83	0.23043	N	0.998384	P;P;P;P;D	0.59767	0.952;0.952;0.926;0.926;0.986	P;P;B;B;P	0.53722	0.53;0.733;0.39;0.39;0.53	T	0.28138	-1.0053	10	0.72032	D	0.01	-20.7995	19.9028	0.96995	0.0:0.0:0.1801:0.8199	.	384;499;493;418;397	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	W	493;418;397;384	ENSP00000164640:R493W;ENSP00000377355:R418W;ENSP00000442033:R384W	ENSP00000164640:R493W	R	-	1	2	PDZD4	152722835	0.055000	0.20627	0.436000	0.26797	0.260000	0.26232	-0.087000	0.11215	-1.249000	0.02500	0.436000	0.28706	CGG			0.716	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061013.3		NM_032512		A	153069641	G	A	153069641	3	1	107	1	0	0	0	0	1	0	0	0	11720	1086	38	1	836	1	PDZD4	23	153069641	Missense_Mutation	SNP	G	TCGA-WZ-A8D5-01A-11D-A435-10	43508570	153069641	2200919	65	8020											
MEGF6	1953	mdanderson.org	37	chr1	3411238	3411238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctgccgttgctggcgtgGcacaggcccccatttctgca	5	9	12	15	2	1	0	0	0	1	0	1	0	1	0	3	3	4	5	3	3	0	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr1:3411238G>A	ENST00000356575.4	-	31	4165	c.3939C>T	c.(3937-3939)tgC>tgT	p.C1313C	MEGF6_ENST00000294599.4_Silent_p.C1078C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1313	EGF-like 24. {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)		TGCTGGCGTGGCACAGGCCCC	0.697																																					p.C1313C	Ovarian(73;978 3658)												.	.			0			c.C3939T												10	14	13					1																	3411238		2005	4148	6153	SO:0001819	synonymous_variant	1953	exon31			GGCGTGGCACAGG	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.3939C>T	1.37:g.3411238G>A			54	0	0		39	0.08	3	NM_001409	8	0	0	Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	1.146	-0.648074	0.03506	.	.	ENSG00000162591	ENST00000491842	.	.	.	3.72	-2.71	0.05986	.	.	.	.	.	T	0.49779	0.1577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43861	-0.9365	4	.	.	.	-14.4627	5.9535	0.19261	0.39:0.1279:0.4821:0.0	.	.	.	.	V	87	.	.	A	-	2	0	MEGF6	3401098	0.071000	0.21146	0.608000	0.28969	0.126000	0.20510	0.133000	0.15912	-0.414000	0.07495	0.462000	0.41574	GCC			0.697	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354866.1		NM_001409		A	3411238	G	A	3411238	2	1	108	1	0	0	0	0	0	0	0	1	9478	1195	42	2		2	MEGF6	1	3411238	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		3411238	245839383	1	8021											
C1orf177	163747	mdanderson.org	37	chr1	55271837	55271837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcatggctggaaccgcgtCggctccacggccaccaagtg	7	6	13	15	4	1	0	1	0	0	0	3	1	2	1	4	4	1	3	4	4	2	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr1:55271837C>T	ENST00000371273.3	+	1	63	c.48C>T	c.(46-48)gtC>gtT	p.V16V	C1orf177_ENST00000358193.3_Silent_p.V16V	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	16										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGAACCGCGTCGGCTCCACGG	0.716																																					p.V16V													.	.			0			c.C48T												9	12	11					1																	55271837		2135	4207	6342	SO:0001819	synonymous_variant	163747	exon1			CCGCGTCGGCTCC	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.48C>T	1.37:g.55271837C>T			13	0	0		11	0.18	2	NM_001110533	0		0	B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	CCDS44153.1																																																																																					0.716	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000027674.1		NM_152607		T	55271837	C	T	55271837	2	4	108	1	0	0	0	0	0	0	0	1	2019	871	31	1		1	C1orf177	1	55271837	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	51860599	55271837	193978784	2	8022											
CELF3	11189	mdanderson.org	37	chr1	151678746	151678746	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgttgaggtggtggtggggg	1	13	20	7	0	0	1	0	1	0	0	0	1	0	1	0	5	7	8	0	5	0	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr1:151678746C>T	ENST00000290583.4	-	10	1873	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Silent_p.Q310Q|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Silent_p.Q155Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	360	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgctgttgAGGTG	0.652																																					p.Q360Q													.	.			0			c.G1080A												19	21	20					1																	151678746		2199	4294	6493	SO:0001819	synonymous_variant	11189	exon10			CTGCTGCTGTTGA	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1080G>A	1.37:g.151678746C>T			27	0	0		29	0.1	3	NM_007185	12	0	0	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	8.446	0.851874	0.17034	.	.	ENSG00000159409	ENST00000420342	.	.	.	4.18	3.18	0.36537	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-1.649	8.7523	0.34622	0.0:0.876:0.0:0.124	.	.	.	.	N	361	.	.	S	-	2	0	CELF3	149945370	.	.	1.000000	0.80357	0.943000	0.58893	.	.	2.183000	0.69458	0.655000	0.94253	AGC			0.652	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000036663.2		NM_007185		T	151678746	C	T	151678746	2	4	108	1	0	0	0	0	0	0	0	1	3219	796	28	2		2	CELF3	1	151678746	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	96406909	151678746	97571875	3	8023											
C1orf66	51093	mdanderson.org	37	chr1	156706437	156706437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaggtttccatgctgaGctcctgcccatcttcagtcc	5	12	7	17	0	2	1	1	1	1	0	6	1	6	1	5	1	3	3	5	1	0	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr1:156706437G>T	ENST00000368216.4	+	8	1950	c.1320G>T	c.(1318-1320)gaG>gaT	p.E440D	RRNAD1_ENST00000476229.1_3'UTR|RRNAD1_ENST00000368218.4_3'UTR|MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000481920.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	440						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCCATGCTGAGCTCCTGCCCA	0.527																																					p.E440D													.	.			0			c.G1320T												132	122	126					1																	156706437		2203	4300	6503	SO:0001583	missense	51093	exon8			TGCTGAGCTCCTG	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1320G>T	1.37:g.156706437G>T	ENSP00000357199:p.Glu440Asp		62	0	0		44	0.07	3	NM_015997	51	0	0	D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	6.846	0.525352	0.13066	.	.	ENSG00000143303	ENST00000368216	T	0.46063	0.88	5.87	1.37	0.22104	.	0.245281	0.41712	D	0.000823	T	0.07548	0.0190	L	0.28192	0.835	0.80722	D	1	B	0.33103	0.397	B	0.24974	0.057	T	0.13818	-1.0495	10	0.15066	T	0.55	-21.7508	2.2736	0.04096	0.2467:0.1333:0.4834:0.1367	.	440	Q96FB5	RRNAD_HUMAN	D	440	ENSP00000357199:E440D	ENSP00000357199:E440D	E	+	3	2	RRNAD1	154973061	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	1.883000	0.39658	0.394000	0.25230	-0.136000	0.14681	GAG			0.527	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098973.1		NM_015997		T	156706437	G	T	156706437	3	4	108	1	0	0	0	0	1	0	0	0	2058	962	34	2	1350	2	C1orf66	1	156706437	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	5027691	156706437	92544184	4	8024											
B3GALT2	8707	broad.mit.edu	37	chr1	193150315	193150315	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatttggatgtccagtaccTttttcattgtaaatacttcc	10	17	6	8	0	1	0	1	0	0	0	3	2	3	1	3	1	2	2	3	1	5	8			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr1:193150315T>C	ENST00000367434.4	-	2	1133	c.378A>G	c.(376-378)aaA>aaG	p.K126K	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	126					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GTCCAGTACCTTTTTCATTGT	0.358																																					p.K126K													.	B3GALT2	44		0			c.A378G												118	123	121					1																	193150315		2203	4299	6502	SO:0001819	synonymous_variant	8707	exon2			AGTACCTTTTTCA	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.378A>G	1.37:g.193150315T>C			120	0	0		109	0.04	4	NM_003783	0		0	B2RAB1|Q9BZQ9	Silent	SNP	ENST00000367434.4	37	CCDS1383.1																																																																																					0.358	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086759.1		NM_003783		C	193150315	T	C	193150315	2	2	108	1	0	0	0	0	0	0	0	1	1248	1606	56	4		4	B3GALT2	1	193150315	Silent	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10	36443878	193150315	56100306	5	8025											
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	21230922	21230922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatttgtgattcatgtgttcCctcatctgagaatctggggc	8	15	10	8	0	4	2	2	2	2	1	5	3	5	2	1	2	0	1	1	2	2	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr2:21230922C>T	ENST00000233242.1	-	26	8945	c.8818G>A	c.(8818-8820)Gga>Aga	p.G2940R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2940					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)					TCATGTGTTCCCTCATCTGAG	0.448																																					p.G2940R													.	.			0			c.G8818A												165	163	164					2																	21230922		2203	4300	6503	SO:0001583	missense	338	exon26			GTGTTCCCTCATC	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.8818G>A	2.37:g.21230922C>T	ENSP00000233242:p.Gly2940Arg		217	0	0		176	0.28	50	NM_000384	12	0.5	6	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455305	0.63401	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01287	5.05	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000017	T	0.09512	0.0234	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00341	-1.1804	10	0.66056	D	0.02	.	19.919	0.97077	0.0:1.0:0.0:0.0	.	2940	P04114	APOB_HUMAN	R	2940	ENSP00000233242:G2940R	ENSP00000233242:G2940R	G	-	1	0	APOB	21084427	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.005000	0.70716	2.712000	0.92718	0.561000	0.74099	GGA			0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1				T	21230922	C	T	21230922	3	4	108	1	0	0	0	0	1	0	0	0	785	632	22	3	4889	3	APOB	2	21230922	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10		21230922	221968451	6	8026											
DNMT3A	1788	mdanderson.org	37	chr2	25462078	25462078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttggcatcaatcatcacagGgttggactacaaaacaggag	14	9	10	8	0	3	0	3	0	0	0	3	2	3	2	0	4	2	2	0	4	4	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr2:25462078G>T	ENST00000264709.3	-	20	2666	c.2329C>A	c.(2329-2331)Cct>Act	p.P777T	DNMT3A_ENST00000402667.1_Missense_Mutation_p.P554T|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P777T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P588T	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	777	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				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)					ATCATCACAGGGTTGGACTAC	0.547			"Mis, F, N, S"		AML																																p.P777T				Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.			0			c.C2329A												59	54	56					2																	25462078		2203	4300	6503	SO:0001583	missense	1788	exon20			TCACAGGGTTGGA		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.2329C>A	2.37:g.25462078G>T	ENSP00000264709:p.Pro777Thr		53	0	0		53	0.06	3	NM_175629	97	0	0	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029555	0.75504	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.98311	0.9440	M	0.88377	2.95	0.80722	D	1	D;P	0.67145	0.996;0.919	D;P	0.73708	0.981;0.701	D	0.99260	1.0890	10	0.87932	D	0	-4.0677	16.8043	0.85622	0.0:0.0:1.0:0.0	.	777;588	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	T	588;777;777;554	ENSP00000370122:P588T;ENSP00000324375:P777T;ENSP00000264709:P777T;ENSP00000384237:P554T	ENSP00000264709:P777T	P	-	1	0	DNMT3A	25315582	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.578000	0.87016	0.561000	0.74099	CCT			0.547	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000211587.1		NM_022552		T	25462078	G	T	25462078	3	4	108	1	0	0	0	0	1	0	0	0	4681	1232	43	3	425	3	DNMT3A	2	25462078	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	4231156	25462078	217737295	7	8027											
POLE4	56655	broad.mit.edu;bcgsc.ca	37	chr2	75185871	75185871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggacctgctggggaggCagcggcctcgcagccccagg	6	3	19	13	2	0	0	0	0	0	0	1	3	0	3	4	7	3	3	4	7	0	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr2:75185871C>T	ENST00000483063.1	+	1	253	c.65C>T	c.(64-66)gCa>gTa	p.A22V	POLE4_ENST00000459636.1_3'UTR	NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN	polymerase (DNA-directed), epsilon 4, accessory subunit	22					DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			lung(1)	1					Cladribine(DB00242)	GCTGGGGAGGCAGCGGCCTCG	0.736																																					p.A22V													.	POLE4	2		0			c.C65T												8	9	9					2																	75185871		1998	3854	5852	SO:0001583	missense	56655	exon1			GGGAGGCAGCGGC	AF261688	CCDS1957.1	2p12	2012-05-18	2012-05-18		ENSG00000115350	ENSG00000115350		"DNA polymerases"	18755	protein-coding gene	gene with protein product		607269	"polymerase (DNA-directed), epsilon 4 (p12 subunit)"			10801849	Standard	NM_019896		Approved	p12	uc002snf.3	Q9NR33	OTTHUMG00000129971	ENST00000483063.1:c.65C>T	2.37:g.75185871C>T	ENSP00000420176:p.Ala22Val		100	0.01	1		98	0.24	24	NM_019896	67	0.28	19	Q53TR2	Missense_Mutation	SNP	ENST00000483063.1	37	CCDS1957.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110180	0.56398	.	.	ENSG00000115350	ENST00000483063	T	0.34072	1.38	5.41	3.51	0.40186	Histone-fold (1);	0.218762	0.45867	D	0.000332	T	0.23171	0.0560	N	0.24115	0.695	0.35014	D	0.757145	B	0.25904	0.137	B	0.27170	0.077	T	0.25467	-1.0131	10	0.87932	D	0	0.1047	6.6311	0.22857	0.0:0.7231:0.1813:0.0956	.	22	Q9NR33	DPOE4_HUMAN	V	22	ENSP00000420176:A22V	ENSP00000420176:A22V	A	+	2	0	POLE4	75039379	0.899000	0.30636	0.956000	0.39512	0.657000	0.38888	0.734000	0.26101	1.285000	0.44548	0.591000	0.81541	GCA			0.736	POLE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252237.2		NM_019896		T	75185871	C	T	75185871	3	4	108	1	0	0	0	0	1	0	0	0	12216	710	25	2	67	2	POLE4	2	75185871	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	49723793	75185871	168013502	8	8028											
MAP3K2	10746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	128066276	128066276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacagatggtctgaagccGtttgctggccccaaaatctc	10	9	11	11	1	2	3	0	1	2	2	3	4	2	3	3	2	2	2	3	2	3	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr2:128066276G>A	ENST00000409947.1	-	16	1801	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	MAP3K2_ENST00000344908.5_Missense_Mutation_p.R507W			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GTCTGAAGCCGTTTGCTGGCC	0.458																																					p.R507W													.	.			0			c.C1519T												138	139	138					2																	128066276		1958	4160	6118	SO:0001583	missense	10746	exon15			GAAGCCGTTTGCT	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1519C>T	2.37:g.128066276G>A	ENSP00000387246:p.Arg507Trp		82	0	0		81	0.27	22	NM_006609	8	0.25	2	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661370	0.88154	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.66099	-0.19;-0.19	5.64	2.74	0.32292	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	0.66446	0.2790	L	0.35593	1.075	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65298	-0.6202	10	0.87932	D	0	.	9.3303	0.38018	0.0673:0.0:0.6737:0.259	.	507	Q9Y2U5	M3K2_HUMAN	W	507	ENSP00000387246:R507W;ENSP00000343463:R507W	ENSP00000343463:R507W	R	-	1	2	MAP3K2	127782746	1.000000	0.71417	0.772000	0.31596	0.995000	0.86356	7.855000	0.86950	0.270000	0.21984	0.561000	0.74099	CGG			0.458	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331014.1		NM_006609		A	128066276	G	A	128066276	3	1	108	1	0	0	0	0	1	0	0	0	9266	1144	40	1	348	1	MAP3K2	2	128066276	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	52880405	128066276	115133097	9	8029											
CYTIP	9595	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	158287440	158287440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatcaaagtgaacatttccGaggagcaggcattctgattc	13	11	9	8	1	2	2	1	2	1	0	4	4	3	3	1	2	2	2	1	2	3	4			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr2:158287440G>A	ENST00000264192.3	-	4	435	c.314C>T	c.(313-315)tCg>tTg	p.S105L	CYTIP_ENST00000497432.1_5'UTR|CYTIP_ENST00000540637.1_5'UTR	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	105	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GAACATTTCCGAGGAGCAGGC	0.383																																					p.S105L													.	CYTIP	45		0			c.C314T												48	50	50					2																	158287440		2203	4300	6503	SO:0001583	missense	9595	exon4			ATTTCCGAGGAGC	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.314C>T	2.37:g.158287440G>A	ENSP00000264192:p.Ser105Leu		187	0	0		166	0.04	6	NM_004288	32	0	0	B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	7.256	0.604283	0.14002	.	.	ENSG00000115165	ENST00000264192;ENST00000439355	T;T	0.28069	2.3;1.63	6.17	-1.53	0.08611	PDZ/DHR/GLGF (4);	1.093640	0.06753	N	0.780343	T	0.12305	0.0299	N	0.04787	-0.16	0.09310	N	0.999993	B	0.10296	0.003	B	0.06405	0.002	T	0.25984	-1.0116	10	0.23891	T	0.37	2.1577	2.8555	0.05571	0.2092:0.3746:0.3055:0.1107	.	105	O60759	CYTIP_HUMAN	L	105;70	ENSP00000264192:S105L;ENSP00000402771:S70L	ENSP00000264192:S105L	S	-	2	0	CYTIP	157995686	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	0.026000	0.13599	-0.267000	0.09325	-0.176000	0.13171	TCG			0.383	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254926.1		NM_004288		A	158287440	G	A	158287440	3	1	108	1	0	0	0	0	1	0	0	0	4209	1059	37	1	785	1	CYTIP	2	158287440	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	30221164	158287440	84911933	10	8030											
BAZ2B	29994	broad.mit.edu	37	chr2	160310243	160310243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaagactgggtggctgAccattgggaaggcactcgac	11	6	14	10	1	0	2	0	1	0	1	1	5	0	3	2	4	0	2	2	4	2	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr2:160310243A>G	ENST00000392783.2	-	4	710	c.215T>C	c.(214-216)gTc>gCc	p.V72A	BAZ2B_ENST00000355831.2_Missense_Mutation_p.V72A|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V72A|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V72A	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	72					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						TGGGTGGCTGACCATTGGGAA	0.502																																					p.V72A													.	BAZ2B	196		0			c.T215C												84	81	82					2																	160310243		1919	4128	6047	SO:0001583	missense	29994	exon4			TGGCTGACCATTG	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.215T>C	2.37:g.160310243A>G	ENSP00000376534:p.Val72Ala		97	0.0412371134	4		113	0.04	4	NM_013450	4	0	0	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868954	0.72065	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000437839	T;T;T;T;T	0.33216	2.66;2.66;2.66;2.66;1.42	5.46	5.46	0.80206	.	.	.	.	.	T	0.29556	0.0737	L	0.44542	1.39	0.33618	D	0.604479	P;B;B;P	0.37663	0.604;0.25;0.361;0.455	B;B;B;B	0.36134	0.218;0.075;0.131;0.062	T	0.49370	-0.8947	9	0.72032	D	0.01	-0.6902	14.5001	0.67716	1.0:0.0:0.0:0.0	.	72;72;72;72	Q6MZK7;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;BAZ2B_HUMAN	A	72	ENSP00000376533:V72A;ENSP00000376534:V72A;ENSP00000348087:V72A;ENSP00000339670:V72A;ENSP00000415613:V72A	ENSP00000339670:V72A	V	-	2	0	BAZ2B	160018489	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.256000	0.89848	2.066000	0.61787	0.533000	0.62120	GTC			0.502	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255037.2				G	160310243	A	G	160310243	3	3	108	1	0	0	0	0	1	0	0	0	1332	275	10	4	6427	4	BAZ2B	2	160310243	Missense_Mutation	SNP	A	TCGA-X3-A8G4-01A-11D-A435-10	2022803	160310243	82889130	11	8031											
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	170115533	170115533	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaaacatgaacacacttAcccggcaaaaggatgaacta	19	5	8	9	1	0	2	0	2	0	0	0	4	0	4	1	3	4	1	1	3	8	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr2:170115533A>C	ENST00000263816.3	-	17	2799		c.e17+1		LRP2_ENST00000443831.1_Splice_Site	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						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)"	GAACACACTTACCCGGCAAAA	0.403																																					.													.	.			0			c.2513+2T>G												112	109	110					2																	170115533		2203	4300	6503	SO:0001630	splice_region_variant	4036	exon18			ACACTTACCCGGC		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.2513+1T>G	2.37:g.170115533A>C			186	0	0		222	0.3	67	NM_004525	0		0	O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363275	0.61513	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0958	0.81123	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169823779	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	9.249000	0.95470	2.203000	0.70933	0.482000	0.46254	.			0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255231.2		NM_004525	Intron	C	170115533	A	C	170115533	5	2	108	1	0	0	0	0	0	0	1	0	8972	405	14	4	11704	4	LRP2	2	170115533	Splice_Site	SNP	A	TCGA-X3-A8G4-01A-11D-A435-10	9805290	170115533	73083840	12	8032											
HDAC11	79885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	13545733	13545733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgcaggcaccgacatcctCgagggggaccgccttggggg	8	5	16	12	3	0	0	0	0	0	0	2	3	1	1	4	5	1	2	4	5	1	1	rs145222745		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr3:13545733C>T	ENST00000295757.3	+	9	972	c.789C>T	c.(787-789)ctC>ctT	p.L263L	HDAC11_ENST00000405025.1_Missense_Mutation_p.S103L|HDAC11_ENST00000433119.1_Missense_Mutation_p.S221L|HDAC11_ENST00000404040.1_Silent_p.L163L|HDAC11_ENST00000402259.1_Silent_p.L97L|HDAC11_ENST00000404548.1_Missense_Mutation_p.S131L|HDAC11_ENST00000437379.2_Silent_p.L235L|HDAC11_ENST00000446613.2_Silent_p.L71L|HDAC11_ENST00000402271.1_Silent_p.L184L|HDAC11_ENST00000522202.1_Silent_p.L212L	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	263	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|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(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CCGACATCCTCGAGGGGGACC	0.602																																					p.L263L													.	.			0			c.C789T							C	,	1,4405	2.1+/-5.4	0,1,2202	60	56	57		636,789	-11	0.1	3	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HDAC11	NM_001136041.2,NM_024827.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	212/297,263/348	13545733	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79885	exon9			CATCCTCGAGGGG	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.789C>T	3.37:g.13545733C>T			127	0	0		125	0.22	28	NM_024827	28	0.29	8	B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Silent	SNP	ENST00000295757.3	37	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	C	4.888	0.165121	0.09339	2.27E-4	0.0	ENSG00000163517	ENST00000433119;ENST00000404548;ENST00000405025	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.41743	0.1172	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	6	.	.	.	-0.0141	14.8264	0.70117	0.0:0.1011:0.5897:0.3092	.	221	Q658J9	.	L	221;131;103	.	.	S	+	2	0	HDAC11	13520733	0.014000	0.17966	0.107000	0.21349	0.959000	0.62525	-2.004000	0.01461	-3.686000	0.00121	-0.254000	0.11334	TCG	0		0.602	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252028.5		NM_024827		T	13545733	C	T	13545733	2	4	108	1	0	0	0	0	0	0	0	1	7021	871	31	1		1	HDAC11	3	13545733	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10		13545733	184476697	13	8033											
TREX1	11277	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	48508314	48508314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcgagatcacaggtcTgagcacagctgtgctggcag	10	6	14	11	1	2	2	1	1	1	1	2	3	2	2	1	2	5	4	1	2	0	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr3:48508314T>C	ENST00000422277.2	+	1	1086	c.425T>C	c.(424-426)cTg>cCg	p.L142P	SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_Missense_Mutation_p.L87P|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000296443.9_Missense_Mutation_p.L87P|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000444177.1_Missense_Mutation_p.L77P|TREX1_ENST00000456089.1_Intron	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	142					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)		ATCACAGGTCTGAGCACAGCT	0.637																																					p.L142P													TREX1,lower_third,carcinoma,-1,1	TREX1	-1	1	0			c.T425C												72	70	71					3																	48508314		2203	4300	6503	SO:0001583	missense	11277	exon1			CAGGTCTGAGCAC	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.425T>C	3.37:g.48508314T>C	ENSP00000390478:p.Leu142Pro		43	0	0		61	0.11	7	NM_016381	62	0.05	3	B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.958611	0.74016	.	.	ENSG00000213689	ENST00000296443;ENST00000436480;ENST00000422277;ENST00000444177	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	4.99	4.99	0.66335	Ribonuclease H-like (1);	0.000000	0.38492	U	0.001665	D	0.98118	0.9379	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98936	1.0789	10	0.87932	D	0	.	12.6519	0.56766	0.0:0.0:0.0:1.0	.	142	Q9NSU2	TREX1_HUMAN	P	87;87;142;77	ENSP00000296443:L87P;ENSP00000392569:L87P;ENSP00000390478:L142P;ENSP00000415972:L77P	ENSP00000296443:L87P	L	+	2	0	TREX1	48483318	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	5.194000	0.65125	1.866000	0.54105	0.533000	0.62120	CTG			0.637	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_016381		C	48508314	T	C	48508314	3	2	108	1	0	0	0	0	1	0	0	0	16500	1580	55	4	427	4	TREX1	3	48508314	Missense_Mutation	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10	34962581	48508314	149514116	14	8034											
CCDC54	84692	broad.mit.edu	37	chr3	107096725	107096725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaaaagtccaggaaaaGactgacttgtatcaaaaaca	20	7	6	8	0	1	2	1	1	0	1	2	3	2	3	2	1	2	1	2	1	8	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr3:107096725G>T	ENST00000261058.1	+	1	538	c.291G>T	c.(289-291)aaG>aaT	p.K97N		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	97										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCCAGGAAAAGACTGACTTGT	0.378																																					p.K97N													.	CCDC54	56		0			c.G291T												70	69	69					3																	107096725		2203	4300	6503	SO:0001583	missense	84692	exon1			GGAAAAGACTGAC	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.291G>T	3.37:g.107096725G>T	ENSP00000261058:p.Lys97Asn		116	0	0		145	0.03	4	NM_032600	0		0	Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	G	8.794	0.931355	0.18131	.	.	ENSG00000138483	ENST00000261058	T	0.65178	-0.14	5.08	-0.908	0.10517	.	0.239294	0.28859	N	0.013911	T	0.48466	0.1501	L	0.46157	1.445	0.09310	N	1	B	0.29646	0.253	B	0.34242	0.178	T	0.42015	-0.9476	10	0.54805	T	0.06	-0.1794	3.522	0.07745	0.4749:0.0:0.3435:0.1816	.	97	Q8NEL0	CCD54_HUMAN	N	97	ENSP00000261058:K97N	ENSP00000261058:K97N	K	+	3	2	CCDC54	108579415	0.012000	0.17670	0.003000	0.11579	0.013000	0.08279	0.068000	0.14531	-0.067000	0.12976	-0.225000	0.12378	AAG			0.378	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353651.1		NM_032600		T	107096725	G	T	107096725	3	4	108	1	0	0	0	0	1	0	0	0	2826	933	33	3	293	3	CCDC54	3	107096725	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	58588411	107096725	90925705	15	8035											
MGLL	11343	mdanderson.org	37	chr3	127440001	127440001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgaggatggcgatggcGcctccctgtaatgcagaatg	8	8	15	10	3	0	2	0	1	0	1	1	4	1	3	3	3	1	2	3	3	2	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr3:127440001G>A	ENST00000434178.2	-	5	1271	c.375C>T	c.(373-375)ggC>ggT	p.G125G	MGLL_ENST00000453507.2_Silent_p.G135G|MGLL_ENST00000398104.1_Silent_p.G125G|MGLL_ENST00000398101.3_Silent_p.G99G|MGLL_ENST00000265052.5_Silent_p.G135G			Q99685	MGLL_HUMAN	monoglyceride lipase	125					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TGGCGATGGCGCCTCCCTGTA	0.542																																					p.G135G													.	.			0			c.C405T												39	43	42					3																	127440001		2032	4184	6216	SO:0001819	synonymous_variant	11343	exon5			GATGGCGCCTCCC	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.375C>T	3.37:g.127440001G>A			35	0	0		32	0.09	3	NM_001256585	22	0	0	B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Silent	SNP	ENST00000434178.2	37	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	G	0.508	-0.867866	0.02590	.	.	ENSG00000074416	ENST00000496306	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.41050	0.1142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53301	-0.8458	4	.	.	.	-16.4568	4.731	0.12964	0.0903:0.1284:0.4135:0.3678	.	.	.	.	V	5	.	.	A	-	2	0	MGLL	128922691	0.000000	0.05858	0.021000	0.16686	0.062000	0.15995	-2.324000	0.01116	-3.669000	0.00123	-2.177000	0.00319	GCG			0.542	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356637.2		NM_007283		A	127440001	G	A	127440001	2	1	108	1	0	0	0	0	0	0	0	1	9572	1074	38	1		1	MGLL	3	127440001	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	20343276	127440001	70582429	16	8036											
EPHB1	2047	mdanderson.org	37	chr3	134960009	134960009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagggaagatccctgtgaGatggacagctccagaggcca	11	5	16	9	0	0	3	0	1	0	3	2	7	2	6	3	4	1	1	3	4	1	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr3:134960009G>T	ENST00000398015.3	+	13	2736	c.2366G>T	c.(2365-2367)aGa>aTa	p.R789I	EPHB1_ENST00000493838.1_Missense_Mutation_p.R350I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	789	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						ATCCCTGTGAGATGGACAGCT	0.507																																					p.R789I													.	.			0			c.G2366T												117	120	119					3																	134960009		2093	4247	6340	SO:0001583	missense	2047	exon13			CTGTGAGATGGAC	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.2366G>T	3.37:g.134960009G>T	ENSP00000381097:p.Arg789Ile		92	0	0		79	0.06	5	NM_004441	8	0	0	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085508	0.94100	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.83673	-1.75;-1.75	4.88	4.88	0.63580	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	D	0.90954	0.7156	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92003	0.5612	10	0.87932	D	0	.	18.2129	0.89876	0.0:0.0:1.0:0.0	.	789	P54762	EPHB1_HUMAN	I	789;350	ENSP00000381097:R789I;ENSP00000419574:R350I	ENSP00000381097:R789I	R	+	2	0	EPHB1	136442699	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.652000	0.98499	2.517000	0.84864	0.655000	0.94253	AGA			0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357671.1		NM_004441		T	134960009	G	T	134960009	3	4	108	1	0	0	0	0	1	0	0	0	5181	942	33	3	2416	3	EPHB1	3	134960009	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	7520008	134960009	63062421	17	8037											
C4orf23	152992	mdanderson.org	37	chr4	8470062	8470062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgggagtttgaagacctGgaatgggggaggtaagctgt	12	9	17	3	0	0	2	0	1	0	1	0	5	0	5	1	5	1	3	1	5	4	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr4:8470062G>T	ENST00000389737.4	+	9	1916	c.1916G>T	c.(1915-1917)tGg>tTg	p.W639L	TRMT44_ENST00000513449.2_Missense_Mutation_p.W398L	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	639					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TTGAAGACCTGGAATGGGGGA	0.473																																					p.W639L													.	.			0			c.G1916T												58	66	63					4																	8470062		2203	4300	6503	SO:0001583	missense	152992	exon9			AGACCTGGAATGG	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1916G>T	4.37:g.8470062G>T	ENSP00000374387:p.Trp639Leu		44	0	0		40	0.08	3	NM_152544	16	0	0	Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088389	0.55968	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.41758	0.99;1.65	4.05	4.05	0.47172	.	0.317533	0.33180	N	0.005193	T	0.64125	0.2570	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70178	-0.4943	10	0.87932	D	0	-26.1399	16.7967	0.85604	0.0:0.0:1.0:0.0	.	639;398	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	L	398;639;247	ENSP00000424643:W398L;ENSP00000374387:W639L	ENSP00000285635:W247L	W	+	2	0	METTL19	8520962	1.000000	0.71417	0.998000	0.56505	0.106000	0.19336	6.970000	0.76099	2.274000	0.75844	0.462000	0.41574	TGG			0.473	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000359197.2		NM_152544		T	8470062	G	T	8470062	3	4	108	1	0	0	0	0	1	0	0	0	2258	1357	47	3	1950	3	C4orf23	4	8470062	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		8470062	182684214	18	8038											
SLC25A4	291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	186066080	186066080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctcaacttcgccttcAaggacaagtacaagcagctc	13	8	7	13	1	2	0	2	0	1	0	5	1	2	1	1	1	5	4	1	1	6	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr4:186066080A>G	ENST00000281456.6	+	2	406	c.274A>G	c.(274-276)Aag>Gag	p.K92E		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	92					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	CTTCGCCTTCAAGGACAAGTA	0.582																																					p.K92E													.	.			0			c.A274G												143	141	142					4																	186066080		2203	4300	6503	SO:0001583	missense	291	exon2			GCCTTCAAGGACA	BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"Solute carriers"	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.274A>G	4.37:g.186066080A>G	ENSP00000281456:p.Lys92Glu		157	0	0		71	0.21	15	NM_001151	39	0.21	8	D3DP59	Missense_Mutation	SNP	ENST00000281456.6	37	CCDS34114.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.877086	0.91664	.	.	ENSG00000151729	ENST00000281456	T	0.79247	-1.25	5.37	5.37	0.77165	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	H	0.99325	4.515	0.80722	D	1	D	0.69078	0.997	D	0.67548	0.952	D	0.95783	0.8818	10	0.87932	D	0	-4.0514	15.5421	0.76062	1.0:0.0:0.0:0.0	.	92	P12235	ADT1_HUMAN	E	92	ENSP00000281456:K92E	ENSP00000281456:K92E	K	+	1	0	SLC25A4	186303074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.254000	0.74563	0.460000	0.39030	AAG			0.582	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259170.3		NM_001151		G	186066080	A	G	186066080	3	3	108	1	0	0	0	0	1	0	0	0	14527	131	5	4	280	4	SLC25A4	4	186066080	Missense_Mutation	SNP	A	TCGA-X3-A8G4-01A-11D-A435-10	177596018	186066080	5088196	19	8039											
SLC6A18	348932	mdanderson.org	37	chr5	1246014	1246014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgggctgggcgcgcgccGcctgtgtgctgctgtccttg	1	9	16	15	5	0	0	0	0	0	0	1	0	1	0	4	2	2	3	4	2	0	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr5:1246014G>T	ENST00000324642.3	+	12	1831	c.1708G>T	c.(1708-1710)Gcc>Tcc	p.A570S		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	570					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)			GGCGCGCGCCGCCTGTGTGCT	0.721																																					p.A570S													.	.			0			c.G1708T												19	22	21					5																	1246014		2200	4297	6497	SO:0001583	missense	348932	exon12			CGCGCCGCCTGTG	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.1708G>T	5.37:g.1246014G>T	ENSP00000323549:p.Ala570Ser		33	0	0		28	0.11	3	NM_182632	0		0		Missense_Mutation	SNP	ENST00000324642.3	37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331952	0.41297	.	.	ENSG00000164363	ENST00000324642	T	0.74421	-0.84	4.6	-4.7	0.03288	.	1.175870	0.06460	N	0.729304	T	0.67767	0.2928	L	0.55990	1.75	0.09310	N	1	B	0.30104	0.268	B	0.29942	0.109	T	0.60687	-0.7214	10	0.87932	D	0	.	10.616	0.45451	0.4349:0.0:0.5651:0.0	.	570	Q96N87	S6A18_HUMAN	S	570	ENSP00000323549:A570S	ENSP00000323549:A570S	A	+	1	0	SLC6A18	1299014	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.528000	0.06193	-1.224000	0.02581	0.305000	0.20034	GCC			0.721	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206728.3		NM_182632		T	1246014	G	T	1246014	3	4	108	1	0	0	0	0	1	0	0	0	14704	1087	38	1	1754	1	SLC6A18	5	1246014	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		1246014	179669246	20	8040											
PCDHB14	56122	mdanderson.org	37	chr5	140604725	140604725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggcgctggtgcgcgtgCtggtgctggacgccaacgac	5	6	18	12	6	0	0	0	0	0	0	0	3	0	1	1	4	4	3	1	4	1	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr5:140604725C>G	ENST00000239449.4	+	1	1648	c.1648C>G	c.(1648-1650)Ctg>Gtg	p.L550V	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	550	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)			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)			GGTGCGCGTGCTGGTGCTGGA	0.716																																					p.L550V	Ovarian(141;50 1831 27899 33809 37648)												.	.			0			c.C1648G												33	36	35					5																	140604725		2202	4297	6499	SO:0001583	missense	56122	exon1			CGCGTGCTGGTGC	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.1648C>G	5.37:g.140604725C>G	ENSP00000239449:p.Leu550Val		44	0.0227272727	1		37	0.14	5	NM_018934	1	0	0	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	0.019	-1.449387	0.01080	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01685	4.69;4.69	4.15	-1.52	0.08637	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00695	0.0023	N	0.01267	-0.92	0.09310	N	1	B	0.13145	0.007	B	0.17979	0.02	T	0.47484	-0.9114	9	0.09084	T	0.74	.	7.1111	0.25390	0.1345:0.6339:0.1362:0.0954	.	550	Q9Y5E9	PCDBE_HUMAN	V	397;550	ENSP00000444518:L397V;ENSP00000239449:L550V	ENSP00000239449:L550V	L	+	1	2	PCDHB14	140584909	0.000000	0.05858	0.270000	0.24601	0.959000	0.62525	-3.811000	0.00360	-0.286000	0.09076	-0.321000	0.08615	CTG			0.716	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251814.2		NM_018934		G	140604725	C	G	140604725	3	3	108	1	0	0	0	0	1	0	0	0	11556	796	28	5	1650	5	PCDHB14	5	140604725	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	139358711	140604725	40310535	21	8041											
SAP30L	79685	mdanderson.org	37	chr5	153826274	153826274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcatcgaggacggcgagcGctgcgtccggcccgcgggca	5	4	16	16	8	1	0	1	0	0	0	3	3	2	1	3	4	2	2	3	4	0	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr5:153826274G>A	ENST00000297109.6	+	1	758	c.110G>A	c.(109-111)cGc>cAc	p.R37H	SAP30L_ENST00000440364.2_Missense_Mutation_p.R37H|SAP30L_ENST00000426761.2_Missense_Mutation_p.R37H|SAP30L-AS1_ENST00000501280.3_RNA|SAP30L_ENST00000523198.1_3'UTR|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000522312.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GACGGCGAGCGCTGCGTCCGG	0.687																																					p.R37H													.	.			0			c.G110A												11	10	10					5																	153826274		2160	4243	6403	SO:0001583	missense	79685	exon1			GCGAGCGCTGCGT	AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.110G>A	5.37:g.153826274G>A	ENSP00000297109:p.Arg37His		17	0	0		17	0.12	2	NM_024632	10	0	0	E9PAU7|E9PAY2	Missense_Mutation	SNP	ENST00000297109.6	37	CCDS4326.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849061	0.91277	.	.	ENSG00000164576	ENST00000297109;ENST00000440364;ENST00000426761	.	.	.	3.33	2.44	0.29823	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	M	0.75615	2.305	0.80722	D	1	B;B;D	0.89917	0.009;0.009;1.0	B;B;D	0.87578	0.008;0.008;0.998	T	0.78907	-0.2019	9	0.87932	D	0	-14.626	11.3179	0.49403	0.0984:0.0:0.9016:0.0	.	37;37;37	E9PAY2;E9PAU7;Q9HAJ7	.;.;SP30L_HUMAN	H	37	.	ENSP00000297109:R37H	R	+	2	0	SAP30L	153806467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.652000	0.91083	1.871000	0.54225	0.491000	0.48974	CGC			0.687	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252454.3		NM_024632		A	153826274	G	A	153826274	3	1	108	1	0	0	0	0	1	0	0	0	13858	1087	38	1	112	1	SAP30L	5	153826274	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	13221549	153826274	27088986	22	8042											
TULP4	56995	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	158873228	158873228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcaccgtcagcttcAcctcgggagacatcagctta	8	10	8	15	2	5	1	4	0	1	1	6	2	5	1	2	1	3	3	2	1	1	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr6:158873228A>G	ENST00000367097.3	+	5	2144	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	TULP4_ENST00000367094.2_Missense_Mutation_p.T263A	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	263					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)		CGTCAGCTTCACCTCGGGAGA	0.537																																					p.T263A													.	.			0			c.A787G												184	145	158					6																	158873228		2203	4300	6503	SO:0001583	missense	56995	exon5			AGCTTCACCTCGG		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.787A>G	6.37:g.158873228A>G	ENSP00000356064:p.Thr263Ala		128	0	0		104	0.1	10	NM_020245	3	0	0	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.782867	0.49891	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.03094	4.05;4.05	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051293	0.85682	D	0.000000	T	0.00608	0.0020	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.33549	0.13;0.417;0.016	B;B;B	0.28011	0.024;0.085;0.018	T	0.51180	-0.8738	10	0.07813	T	0.8	-38.1146	16.0329	0.80593	1.0:0.0:0.0:0.0	.	263;263;263	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	A	263	ENSP00000356064:T263A;ENSP00000356061:T263A	ENSP00000356061:T263A	T	+	1	0	TULP4	158793216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.131000	0.64751	2.197000	0.70478	0.533000	0.62120	ACC			0.537	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042869.1		NM_020245		G	158873228	A	G	158873228	3	3	108	1	0	0	0	0	1	0	0	0	16800	159	6	4	805	4	TULP4	6	158873228	Missense_Mutation	SNP	A	TCGA-X3-A8G4-01A-11D-A435-10		158873228	12241839	23	8043											
KCTD7	154881	mdanderson.org	37	chr7	66094066	66094066	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggatggtggtagtcacGgggcgggagccagacagccg	9	4	20	8	3	1	2	1	0	0	2	1	4	1	4	2	6	2	1	2	6	1	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr7:66094066G>T	ENST00000275532.3	+	1	199	c.15G>T	c.(13-15)acG>acT	p.T5T	KCTD7_ENST00000443322.1_Silent_p.T5T	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	5					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGGTAGTCACGGGGCGGGAGC	0.736																																					p.T5T													.	.			0			c.G15T												13	14	14					7																	66094066		2157	4256	6413	SO:0001819	synonymous_variant	154881	exon1			AGTCACGGGGCGG	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.15G>T	7.37:g.66094066G>T			51	0	0		51	0.06	3	NM_001167961	0		0	A4D2M4|Q8IVR0	Silent	SNP	ENST00000275532.3	37	CCDS5534.1																																																																																					0.736	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251733.2		NM_153033		T	66094066	G	T	66094066	2	4	108	1	0	0	0	0	0	0	0	1	8129	1103	39	1		1	KCTD7	7	66094066	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		66094066	93044597	24	8044											
PDK4	5166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	95225507	95225507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgcttcatggacagcggGgacgggctgtagcgcgagaa	9	6	17	9	4	1	1	1	0	0	1	1	4	1	3	0	4	4	4	0	4	2	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr7:95225507G>A	ENST00000005178.5	-	1	296	c.99C>T	c.(97-99)tcC>tcT	p.S33S	AC002451.3_ENST00000416502.1_RNA|AC002451.3_ENST00000432265.1_RNA	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	33					cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGGACAGCGGGGACGGGCTGT	0.637																																					p.S33S													.	.			0			c.C99T												50	42	44					7																	95225507		2203	4300	6503	SO:0001819	synonymous_variant	5166	exon1			CAGCGGGGACGGG	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.99C>T	7.37:g.95225507G>A			175	0	0		165	0.12	20	NM_002612	2	0	0		Silent	SNP	ENST00000005178.5	37	CCDS5643.1																																																																																					0.637	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333298.1		NM_002612		A	95225507	G	A	95225507	2	1	108	1	0	0	0	0	0	0	0	1	11695	1219	43	3		3	PDK4	7	95225507	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	29131441	95225507	63913156	25	8045											
AP4M1	9179	broad.mit.edu	37	chr7	99699564	99699564	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccggaagctgacgggactGccaggagacgagtccccggt	9	5	15	12	4	0	2	0	1	0	1	1	6	1	4	4	4	3	1	4	4	2	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr7:99699564G>A	ENST00000359593.4	+	2	278	c.120G>A	c.(118-120)ctG>ctA	p.L40L	AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000421755.1_Silent_p.L40L|AP4M1_ENST00000429084.1_Silent_p.L40L|MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000303887.5_5'Flank|MCM7_ENST00000343023.6_5'Flank	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	40					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)					TGACGGGACTGCCAGGAGACG	0.697																																					p.L40L	Pancreas(174;1182 2812 29595 49511)												.	AP4M1	39		0			c.G120A												29	34	32					7																	99699564		2203	4300	6503	SO:0001819	synonymous_variant	9179	exon2			GGGACTGCCAGGA	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.120G>A	7.37:g.99699564G>A			288	0	0		259	0.02	6	NM_004722	42	0	0	D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	CCDS5685.1																																																																																					0.697	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336772.4		NM_004722		A	99699564	G	A	99699564	2	1	108	1	0	0	0	0	0	0	0	1	753	1306	46	2		2	AP4M1	7	99699564	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	4474057	99699564	59439099	26	8046											
TRPV5	56302	mdanderson.org	37	chr7	142606735	142606735	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcagcgaggcagcttccGctccagcatcactgtggtgg	7	7	14	13	2	1	0	1	0	0	0	3	1	3	0	2	4	3	5	2	4	0	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr7:142606735G>T	ENST00000265310.1	-	14	2164	c.1816C>A	c.(1816-1818)Cgg>Agg	p.R606R		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	606					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)					GGCAGCTTCCGCTCCAGCATC	0.607																																					p.R606R													TRPV5,NS,carcinoma,+1,1	TRPV5	1	1	0			c.C1816A												61	53	56					7																	142606735		2203	4300	6503	SO:0001819	synonymous_variant	56302	exon14			GCTTCCGCTCCAG	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.1816C>A	7.37:g.142606735G>T			32	0	0		24	0.13	3	NM_019841	0		0	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	CCDS5875.1																																																																																					0.607	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347660.1		NM_019841		T	142606735	G	T	142606735	2	4	108	1	0	0	0	0	0	0	0	1	16623	1086	38	1		1	TRPV5	7	142606735	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	42907171	142606735	16531928	27	8047											
REPIN1	29803	broad.mit.edu	37	chr7	150069590	150069590	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagacgcacctggtggcGcactcgcgcgtgcactccgg	8	5	14	14	6	0	2	0	0	0	2	2	2	1	2	2	3	1	3	2	3	2	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr7:150069590G>T	ENST00000425389.2	+	1	1338	c.1260G>T	c.(1258-1260)gcG>gcT	p.A420A	REPIN1_ENST00000540729.1_Silent_p.A420A|REPIN1_ENST00000397281.2_Silent_p.A420A|REPIN1_ENST00000489432.2_Silent_p.A477A|REPIN1_ENST00000444957.1_Silent_p.A420A|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	420					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACCTGGTGGCGCACTCGCGCG	0.731																																					p.A477A													.	REPIN1	74		0			c.G1431T												4	6	5					7																	150069590		1923	3986	5909	SO:0001819	synonymous_variant	29803	exon3			GGTGGCGCACTCG	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1260G>T	7.37:g.150069590G>T			16	0	0		6	0.33	2	NM_001099695	32	0	0	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	CCDS43677.1																																																																																					0.731	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000376940.1		NM_014374		T	150069590	G	T	150069590	2	4	108	1	0	0	0	0	0	0	0	1	13250	1074	38	1		1	REPIN1	7	150069590	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	7462855	150069590	9069073	28	8048											
RP1L1	94137	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	10468935	10468935	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggggcctggctggcgtgtCccctcctgcgggctcccacc	1	8	15	17	2	0	0	0	0	0	0	3	0	3	0	6	5	1	2	6	5	0	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr8:10468935C>A	ENST00000382483.3	-	4	2896	c.2673G>T	c.(2671-2673)ggG>ggT	p.G891G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	891					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTGGCGTGTCCCCTCCTGCG	0.736																																					p.G891G													.	.			0			c.G2673T												5	7	6					8																	10468935		1814	4019	5833	SO:0001819	synonymous_variant	94137	exon4			GCGTGTCCCCTCC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2673G>T	8.37:g.10468935C>A			33	0	0		27	0.44	12	NM_178857	0		0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																					0.736	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375673.1				A	10468935	C	A	10468935	2	1	108	1	0	0	0	0	0	0	0	1	13556	842	30	3		3	RP1L1	8	10468935	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10		10468935	135895087	29	8049											
TNFRSF10B	8795	mdanderson.org	37	chr8	22880439	22880439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaacttcctcatgagCggctcccaggagtcaaaggg	10	6	12	13	1	2	1	2	1	0	0	4	2	4	2	3	4	2	1	3	4	2	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr8:22880439C>T	ENST00000276431.4	-	9	1352	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	TNFRSF10B_ENST00000542226.1_Silent_p.P176P|TNFRSF10B_ENST00000347739.3_Silent_p.P327P	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	356	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCCTCATGAGCGGCTCCCAGG	0.547																																					p.P356P	GBM(94;1064 1342 1839 21060 42553)												.	.			0			c.G1068A												73	63	66					8																	22880439		2203	4300	6503	SO:0001819	synonymous_variant	8795	exon9			CATGAGCGGCTCC	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.1068G>A	8.37:g.22880439C>T			51	0	0		40	0.08	3	NM_003842	74	0	0	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Silent	SNP	ENST00000276431.4	37	CCDS6035.1																																																																																					0.547	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000215099.2		NM_147187		T	22880439	C	T	22880439	2	4	108	1	0	0	0	0	0	0	0	1	16304	755	27	1		1	TNFRSF10B	8	22880439	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	12411504	22880439	123483583	30	8050											
ATAD2	29028	bcgsc.ca;mdanderson.org	37	chr8	124383532	124383532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctcattcgctgtctacGcatcttcttcatgtcatcca	6	17	4	14	2	7	0	3	0	4	0	10	0	8	0	1	0	1	2	1	0	1	5			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr8:124383532G>A	ENST00000287394.5	-	5	690	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	195					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)			CGCTGTCTACGCATCTTCTTC	0.313																																					p.R195C													ATAD2,NS,carcinoma,+2,2	ATAD2	160	2	0			c.C583T												94	92	93					8																	124383532		2203	4298	6501	SO:0001583	missense	29028	exon5			GTCTACGCATCTT	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.583C>T	8.37:g.124383532G>A	ENSP00000287394:p.Arg195Cys		264	0.0113636364	3		276	0.08	22	NM_014109	17	0.12	2	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984142	0.74474	.	.	ENSG00000156802	ENST00000287394	T	0.08102	3.13	5.06	4.16	0.48862	.	3.441010	0.01712	U	0.027766	T	0.33904	0.0879	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00003	-1.2586	10	0.87932	D	0	-11.072	13.9126	0.63876	0.0:0.0:0.8343:0.1657	.	25;195	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	C	195	ENSP00000287394:R195C	ENSP00000287394:R195C	R	-	1	0	ATAD2	124452713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.008000	0.70739	1.057000	0.40506	0.555000	0.69702	CGT			0.313	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381766.2		NM_014109		A	124383532	G	A	124383532	3	1	108	1	0	0	0	0	1	0	0	0	1071	1087	38	1	3685	1	ATAD2	8	124383532	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	101503093	124383532	21980490	31	8051											
BAI1	575	mdanderson.org	37	chr8	143623718	143623718	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgaccagatgccgcagAcccgcctcatccacctcagc	10	6	7	18	2	2	3	2	1	0	2	3	3	3	3	6	0	2	1	6	0	0	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr8:143623718A>C	ENST00000517894.1	+	28	5017	c.4123A>C	c.(4123-4125)Acc>Ccc	p.T1375P	BAI1_ENST00000323289.5_Missense_Mutation_p.T1375P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1375	Necessary for interaction with MAGI1.				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)					GATGCCGCAGACCCGCCTCAT	0.741																																					p.T1375P													.	.			0			c.A4123C												12	22	19					8																	143623718		2025	4153	6178	SO:0001583	missense	575	exon27			CCGCAGACCCGCC	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.4123A>C	8.37:g.143623718A>C	ENSP00000430945:p.Thr1375Pro		62	0.3064516129	19		35	0.4	14	NM_001702	8	0.5	4		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	A	18.68	3.675697	0.67928	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.29917	1.55;1.55	4.37	4.37	0.52481	.	0.067181	0.64402	U	0.000018	T	0.43233	0.1238	L	0.53249	1.67	0.41029	D	0.985148	D	0.64830	0.994	P	0.57911	0.829	T	0.28650	-1.0037	10	0.35671	T	0.21	.	12.7483	0.57293	1.0:0.0:0.0:0.0	.	1375	E9PBK0	.	P	1375	ENSP00000430945:T1375P;ENSP00000313046:T1375P	ENSP00000313046:T1375P	T	+	1	0	BAI1	143620720	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.321000	0.43805	1.598000	0.50083	0.533000	0.62120	ACC			0.741	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000379963.3		NM_001702		C	143623718	A	C	143623718	3	2	108	1	0	0	0	0	1	0	0	0	1298	275	10	4	4229	4	BAI1	8	143623718	Missense_Mutation	SNP	A	TCGA-X3-A8G4-01A-11D-A435-10	19240186	143623718	2740304	32	8052											
GSN	2934	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	124094758	124094758	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatcgggatcggcggacGcccatcaccgtggtgaagca	9	5	14	13	5	1	1	1	1	0	0	3	3	1	3	3	4	1	1	3	4	2	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr9:124094758G>C	ENST00000373818.4	+	17	2295	c.2226G>C	c.(2224-2226)acG>acC	p.T742T	GSN_ENST00000373823.3_Silent_p.T691T|GSN_ENST00000545652.1_Silent_p.T699T|GSN_ENST00000412819.1_Silent_p.T691T|GSN_ENST00000373806.1_Silent_p.T167T|GSN_ENST00000373808.2_Silent_p.T691T|GSN_ENST00000394353.2_Silent_p.T702T|GSN_ENST00000436847.1_Silent_p.T702T|GSN_ENST00000341272.2_Silent_p.T691T|GSN_ENST00000449733.1_Silent_p.T691T	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	742	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						ATCGGCGGACGCCCATCACCG	0.577											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T742T													.	.			0			c.G2226C												145	126	133					9																	124094758		2203	4300	6503	SO:0001819	synonymous_variant	2934	exon17			GCGGACGCCCATC	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2226G>C	9.37:g.124094758G>C			107	0	0	1531	103	0.18	19	NM_000177	980	0.16	153	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	CCDS6828.1																																																																																					0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000053861.1		NM_000177		C	124094758	G	C	124094758	2	2	108	1	0	0	0	0	0	0	0	1	6840	1074	38	5		5	GSN	9	124094758	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		124094758	17118673	33	8053											
OR1B1	347169	hgsc.bcm.edu	37	chr9	125391778	125391778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacccaaggagcaaaaaaaCcggagagtgtgaagcattag	18	4	12	7	1	0	2	0	1	0	1	0	5	0	3	2	2	4	2	2	2	7	1	rs77073101		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr9:125391778C>A	ENST00000304833.3	-	1	74	c.37G>T	c.(37-39)Gtt>Ttt	p.V13F	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	13						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)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGCAAAAAAACCGGAGAGTGT	0.463																																					p.V13F													.	.			0			c.G37T												83	85	84					9																	125391778		2201	4296	6497	SO:0001583	missense	347169	exon1			AAAAAACCGGAGA	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"GPCR / Class A : Olfactory receptors"	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.37G>T	9.37:g.125391778C>A	ENSP00000303151:p.Val13Phe		74	0	0		72	0.08	6	NM_001004450	0		0	Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244849	0.22796	.	.	ENSG00000171484	ENST00000304833	T	0.03004	4.08	4.22	2.26	0.28386	.	0.427504	0.17046	N	0.189112	T	0.03178	0.0093	L	0.27053	0.805	0.09310	N	1	B	0.24823	0.112	B	0.25140	0.058	T	0.40232	-0.9574	10	0.87932	D	0	-9.1841	7.1045	0.25356	0.1712:0.7326:0.0:0.0962	rs11421222;rs59467197	13	Q8NGR6	OR1B1_HUMAN	F	13	ENSP00000303151:V13F	ENSP00000303151:V13F	V	-	1	0	OR1B1	124431599	.	.	0.511000	0.27724	0.289000	0.27227	.	.	0.469000	0.27268	0.555000	0.69702	GTT			0.463	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053947.2		NM_001004450		A	125391778	C	A	125391778	3	1	108	1	0	0	0	0	1	0	0	0	10968	507	18	3	922	3	OR1B1	9	125391778	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	1297020	125391778	15821653	34	8054											
UCK1	83549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	134404415	134404415	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccctccctcggcgcacGtcccggagaactgcagcggc	6	5	13	17	5	0	1	0	0	0	1	4	2	3	1	3	4	3	2	3	4	1	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr9:134404415G>A	ENST00000372215.4	-	5	612	c.519C>T	c.(517-519)gaC>gaT	p.D173D	UCK1_ENST00000372210.3_Silent_p.D164D|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372211.3_Silent_p.D178D|UCK1_ENST00000459858.1_5'UTR	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	173					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CTCGGCGCACGTCCCGGAGAA	0.687																																					p.D178D	Melanoma(42;523 1129 28385 43975 48113)												.	.			0			c.C534T												65	48	54					9																	134404415		2203	4300	6503	SO:0001819	synonymous_variant	83549	exon5			GCGCACGTCCCGG	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.519C>T	9.37:g.134404415G>A			93	0	0		67	0.13	9	NM_001261451	61	0.2	12	Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Silent	SNP	ENST00000372215.4	37	CCDS6944.1																																																																																					0.687	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054726.1		NM_031432		A	134404415	G	A	134404415	2	1	108	1	0	0	0	0	0	0	0	1	16947	1136	40	1		1	UCK1	9	134404415	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	9012637	134404415	6809016	35	8055											
BRD3	8019	mdanderson.org	37	chr9	136915676	136915676	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgaaagggggtcgctggGgagacagaggacacggccgc	9	4	18	10	3	1	3	0	1	1	2	2	5	1	4	1	6	0	1	1	6	1	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr9:136915676G>T	ENST00000303407.7	-	5	719	c.534C>A	c.(532-534)tcC>tcA	p.S178S	BRD3_ENST00000357885.2_Silent_p.S178S|BRD3_ENST00000371834.2_Silent_p.S178S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	178					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)		GGGTCGCTGGGGAGACAGAGG	0.597			T	C15orf55	lethal midline carcinoma of young people																																p.S178S				Dom	yes		9	9q34	8019	bromodomain containing 3		E	.	.			0			c.C534A												37	46	43					9																	136915676		2203	4300	6503	SO:0001819	synonymous_variant	8019	exon5			CGCTGGGGAGACA		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.534C>A	9.37:g.136915676G>T			23	0	0		21	0.14	3	NM_007371	22	0	0	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	CCDS6980.1																																																																																					0.597	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055390.4		NM_007371		T	136915676	G	T	136915676	2	4	108	1	0	0	0	0	0	0	0	1	1505	1219	43	3		3	BRD3	9	136915676	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	2511261	136915676	4297755	36	8056											
LDB3	11155	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	88476312	88476312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcggagcctgccagccGtccaccctgggtgacagatg	6	6	13	16	2	0	2	0	1	0	1	1	3	1	3	6	2	4	0	6	2	0	0	rs146265188	byFrequency	TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr10:88476312G>A	ENST00000361373.4	+	9	1481	c.1460G>A	c.(1459-1461)cGt>cAt	p.R487H	LDB3_ENST00000263066.6_Missense_Mutation_p.R377H|LDB3_ENST00000429277.2_Missense_Mutation_p.R492H|LDB3_ENST00000458213.2_Missense_Mutation_p.R377H|LDB3_ENST00000352360.5_Missense_Mutation_p.R230H	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						CCTGCCAGCCGTCCACCCTGG	0.662													G|||	8	0.00159744	0.0061	0	5008	,	,		11210	0		0	False		,,,				2504	0				p.R492H													.	.			0			c.G1475A							G	HIS/ARG,HIS/ARG,HIS/ARG	20,4386	28.1+/-56.4	0,20,2183	75	81	79		1130,1475,1460	5.2	1	10	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense,missense	LDB3	NM_001080114.1,NM_001171610.1,NM_007078.2	29,29,29	0,20,6483	AA,AG,GG		0.0,0.4539,0.1538	probably-damaging,probably-damaging,probably-damaging	377/618,492/733,487/728	88476312	20,12986	2203	4300	6503	SO:0001583	missense	11155	exon10			CCAGCCGTCCACC	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.1460G>A	10.37:g.88476312G>A	ENSP00000355296:p.Arg487His		170	0	0		124	0.19	24	NM_001171610	0		0		Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	14.57	2.574757	0.45902	0.004539	0.0	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.55234	0.75;0.61;0.57;0.61;0.53	5.17	5.17	0.71159	.	0.000000	0.32935	N	0.005474	T	0.69287	0.3094	M	0.83012	2.62	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.796;0.999	D;D;D;B;D	0.79784	0.959;0.993;0.966;0.35;0.95	T	0.75590	-0.3265	10	0.51188	T	0.08	.	19.0198	0.92908	0.0:0.0:1.0:0.0	.	492;408;230;487;377	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	H	408;492;377;230;377;487	ENSP00000401437:R492H;ENSP00000409148:R377H;ENSP00000263067:R230H;ENSP00000263066:R377H;ENSP00000355296:R487H	ENSP00000263066:R377H	R	+	2	0	LDB3	88466292	1.000000	0.71417	0.998000	0.56505	0.530000	0.34684	6.318000	0.72866	2.561000	0.86390	0.650000	0.86243	CGT	0.002		0.662	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000049160.2				A	88476312	G	A	88476312	3	1	108	1	0	0	0	0	1	0	0	0	8712	1145	40	1	1830	1	LDB3	10	88476312	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		88476312	47058435	37	8057											
COL17A1	1308	mdanderson.org	37	chr10	105793940	105793940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgctcatggaagagctgtAggagctgccccgcctgacag	8	8	14	11	1	1	2	1	1	0	1	1	4	1	4	3	2	4	4	3	2	2	1	rs143582088		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr10:105793940A>G	ENST00000353479.5	-	52	4209	c.3919T>C	c.(3919-3921)Tac>Cac	p.Y1307H	COL17A1_ENST00000369733.3_Missense_Mutation_p.Y1225H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1307	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGAGCTGTAGGAGCTGCCC	0.652																																					p.Y1307H													.	.			0			c.T3919C							A	HIS/TYR	0,4406		0,0,2203	33	29	30		3919	2.5	1	10	dbSNP_134	30	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL17A1	NM_000494.3	83	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1307/1498	105793940	1,13005	2203	4300	6503	SO:0001583	missense	1308	exon52			AGCTGTAGGAGCT	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3919T>C	10.37:g.105793940A>G	ENSP00000340937:p.Tyr1307His		57	0	0		47	0.06	3	NM_000494	11	0	0	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	A	7.841	0.721963	0.15372	0.0	1.16E-4	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91843	-2.92;-2.84	4.98	2.55	0.30701	.	0.000000	0.35407	N	0.003224	D	0.87481	0.6188	L	0.46614	1.455	0.80722	D	1	B	0.15930	0.015	B	0.17433	0.018	T	0.80721	-0.1256	10	0.87932	D	0	-2.4909	7.8046	0.29195	0.8246:0.0:0.1754:0.0	.	1307	Q9UMD9	COHA1_HUMAN	H	1307;1225	ENSP00000340937:Y1307H;ENSP00000358748:Y1225H	ENSP00000340937:Y1307H	Y	-	1	0	COL17A1	105783930	1.000000	0.71417	0.999000	0.59377	0.650000	0.38633	2.246000	0.43142	0.246000	0.21394	0.459000	0.35465	TAC	0		0.652	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050181.1		NM_130778, NM_000494		G	105793940	A	G	105793940	3	3	108	1	0	0	0	0	1	0	0	0	3676	420	15	4	594	4	COL17A1	10	105793940	Missense_Mutation	SNP	A	TCGA-X3-A8G4-01A-11D-A435-10	17317628	105793940	29740807	38	8058											
ADAM12	8038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	127789652	127789652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actccctacctgacaagctgCgcattgtcatgggatttgcg	8	11	10	12	2	1	1	1	1	0	0	2	2	2	2	2	1	4	2	2	1	2	3	rs377680010		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr10:127789652C>T	ENST00000368679.4	-	9	1218	c.909G>A	c.(907-909)gcG>gcA	p.A303A	ADAM12_ENST00000368676.4_Silent_p.A303A	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	303	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A303A(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGACAAGCTGCGCATTGTCAT	0.507																																					p.A303A													ADAM12_ENST00000368679,NS,carcinoma,0,9	ADAM12_ENST00000368679	0	9	3	Substitution - coding silent(3)	lung(3)	c.G909A							C	,	0,4406		0,0,2203	85	75	78		909,909	-10.6	0	10		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAM12	NM_003474.4,NM_021641.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	303/910,303/739	127789652	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8038	exon9			AAGCTGCGCATTG	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.909G>A	10.37:g.127789652C>T			115	0	0		76	0.13	10	NM_021641	1	0	0	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	CCDS7653.1																																																																																					0.507	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050961.1				T	127789652	C	T	127789652	2	4	108	1	0	0	0	0	0	0	0	1	236	755	27	1		1	ADAM12	10	127789652	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	21995712	127789652	7745095	39	8059											
MKI67	4288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	129911726	129911726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggacaggtggagtgtgcaTtaccagagactttcttttgg	9	12	13	7	0	1	1	0	0	1	1	1	4	1	3	1	4	2	1	1	4	1	4			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr10:129911726T>C	ENST00000368654.3	-	8	1996	c.1621A>G	c.(1621-1623)Atg>Gtg	p.M541V	MKI67_ENST00000368653.3_Missense_Mutation_p.M181V|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	541					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)				GGAGTGTGCATTACCAGAGAC	0.483																																					p.M541V													.	.			0			c.A1621G												242	217	226					10																	129911726		2203	4300	6503	SO:0001583	missense	4288	exon8			TGTGCATTACCAG	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.1621A>G	10.37:g.129911726T>C	ENSP00000357643:p.Met541Val		86	0	0		69	0.45	31	NM_002417	2	0.5	1	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	0.504	-0.869435	0.02570	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01240	5.17;5.12	4.95	-2.94	0.05581	.	2.059880	0.01881	N	0.037899	T	0.00875	0.0029	N	0.02011	-0.69	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	0.48736	-0.9009	10	0.29301	T	0.29	.	10.599	0.45356	0.0:0.4106:0.0:0.5894	.	541;181;541	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	541;181;541;116	ENSP00000357643:M541V;ENSP00000357642:M181V	ENSP00000357641:M116V	M	-	1	0	MKI67	129801716	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.451000	0.06795	-0.778000	0.04566	-2.152000	0.00332	ATG			0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000050999.1		NM_002417		C	129911726	T	C	129911726	3	2	108	1	0	0	0	0	1	0	0	0	9614	1493	52	4	8181	4	MKI67	10	129911726	Missense_Mutation	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10	2122074	129911726	5623021	40	8060											
OR6A2	8590	mdanderson.org	37	chr11	6816715	6816715	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgggaatagtgacagtGacataccagatctccagaaa	15	9	9	8	0	2	4	0	2	2	2	3	5	2	5	2	1	1	0	2	1	4	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr11:6816715G>T	ENST00000332601.3	-	1	413	c.225C>A	c.(223-225)gtC>gtA	p.V75V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	75					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGTGACAGTGACATACCAGA	0.423																																					p.V75V													.	.			0			c.C225A												159	147	151					11																	6816715		2201	4296	6497	SO:0001819	synonymous_variant	8590	exon1			GACAGTGACATAC	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.225C>A	11.37:g.6816715G>T			74	0	0		69	0.06	4	NM_003696	0		0	Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	CCDS7772.1																																																																																					0.423	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385981.1		NM_003696		T	6816715	G	T	6816715	2	4	108	1	0	0	0	0	0	0	0	1	11203	1277	45	3		3	OR6A2	11	6816715	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		6816715	128189801	41	8061											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57088152	57088152	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggcaggcagggcccggggTttgggcttgacagggggttt	4	10	20	7	1	0	1	0	1	0	0	0	1	0	1	1	8	0	5	1	8	0	4			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr11:57088152T>G	ENST00000532437.1	-	2	440	c.129A>C	c.(127-129)aaA>aaC	p.K43N	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.K43N			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	43	Arg/Glu/Lys/Pro-rich (charged).				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)				GGGCCCGGGGTTTGGGCTTGA	0.627																																					p.K43N													.	TNKS1BP1	148		0			c.A129C												14	17	16					11																	57088152		2181	4266	6447	SO:0001583	missense	85456	exon3			CCGGGGTTTGGGC	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.129A>C	11.37:g.57088152T>G	ENSP00000437271:p.Lys43Asn		33	0.2121212121	7		27	0.19	5	NM_033396	12	0.08	1	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.612394	0.66672	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.57907	0.37;0.37	4.58	0.458	0.16670	.	0.000000	0.40908	D	0.000982	T	0.52693	0.1750	N	0.24115	0.695	0.27451	N	0.953443	D	0.89917	1.0	D	0.87578	0.998	T	0.48103	-0.9064	10	0.59425	D	0.04	-13.6809	8.2281	0.31582	0.0:0.4684:0.0:0.5316	.	43	Q9C0C2	TB182_HUMAN	N	43	ENSP00000350990:K43N;ENSP00000437271:K43N	ENSP00000350990:K43N	K	-	3	2	TNKS1BP1	56844728	0.934000	0.31675	0.998000	0.56505	0.988000	0.76386	-0.322000	0.08007	-0.084000	0.12595	0.460000	0.39030	AAA			0.627	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392455.1		NM_033396		G	57088152	T	G	57088152	3	3	108	1	0	0	0	0	1	0	0	0	16343	1722	60	4	5096	4	TNKS1BP1	11	57088152	Missense_Mutation	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10	50271437	57088152	77918364	42	8062											
RTN4RL2	349667	mdanderson.org	37	chr11	57243890	57243890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctcgctcgagttcctgCggctcaacgctaacccctgg	5	9	10	17	4	1	0	1	0	0	0	4	1	2	0	4	2	4	4	4	2	2	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr11:57243890C>T	ENST00000335099.3	+	3	1086	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CGAGTTCCTGCGGCTCAACGC	0.726																																					p.R257W													.	.			0			c.C769T												8	10	9					11																	57243890		2125	4242	6367	SO:0001583	missense	349667	exon3			TTCCTGCGGCTCA	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.769C>T	11.37:g.57243890C>T	ENSP00000335397:p.Arg257Trp		17	0	0		18	0.11	2	NM_178570	2	0	0		Missense_Mutation	SNP	ENST00000335099.3	37	CCDS7957.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146192	0.77888	.	.	ENSG00000186907	ENST00000335099	T	0.58060	0.36	4.43	2.19	0.27852	.	0.000000	0.36002	U	0.002855	T	0.57489	0.2057	N	0.21373	0.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62609	-0.6818	10	0.87932	D	0	.	13.7108	0.62667	0.2922:0.7078:0.0:0.0	.	257	Q86UN3	R4RL2_HUMAN	W	257	ENSP00000335397:R257W	ENSP00000335397:R257W	R	+	1	2	RTN4RL2	57000466	0.972000	0.33761	1.000000	0.80357	0.984000	0.73092	0.785000	0.26830	0.804000	0.34136	-0.500000	0.04577	CGG			0.726	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392537.1		NM_178570		T	57243890	C	T	57243890	3	4	108	1	0	0	0	0	1	0	0	0	13755	759	27	1	779	1	RTN4RL2	11	57243890	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	155738	57243890	77762626	43	8063											
ADRBK1	156	broad.mit.edu	37	chr11	67051341	67051341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaccctcccccgctgaTccccccacgaggggaggtga	7	5	12	17	2	0	2	0	2	0	0	2	4	2	3	6	3	1	3	6	3	1	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr11:67051341T>C	ENST00000308595.5	+	17	1702	c.1412T>C	c.(1411-1413)aTc>aCc	p.I471T	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	471	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCCCCGCTGATCCCCCCACGA	0.632																																					p.I471T													.	ADRBK1	51		0			c.T1412C												30	32	32					11																	67051341		2197	4294	6491	SO:0001583	missense	156	exon17			CGCTGATCCCCCC	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1412T>C	11.37:g.67051341T>C	ENSP00000312262:p.Ile471Thr		91	0.021978022	2		61	0.1	6	NM_001619	108	0	0	B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.088709	0.55968	.	.	ENSG00000173020	ENST00000308595	T	0.52295	0.67	5.17	5.17	0.71159	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.49916	D	0.000135	T	0.47002	0.1422	L	0.59436	1.845	0.80722	D	1	B	0.15473	0.013	B	0.19666	0.026	T	0.42481	-0.9449	10	0.45353	T	0.12	-7.4197	14.9808	0.71309	0.0:0.0:0.0:1.0	.	471	P25098	ARBK1_HUMAN	T	471	ENSP00000312262:I471T	ENSP00000312262:I471T	I	+	2	0	ADRBK1	66807917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.540000	0.82074	2.083000	0.62718	0.459000	0.35465	ATC			0.632	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393153.1		NM_001619		C	67051341	T	C	67051341	3	2	108	1	0	0	0	0	1	0	0	0	343	1435	50	4	1478	4	ADRBK1	11	67051341	Missense_Mutation	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10	9807451	67051341	67955175	44	8064											
FOLR1	2348	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	71906977	71906977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggagctgcctgccaacCtttccatttctacttcccca	7	12	7	15	0	1	0	0	0	1	0	3	1	3	1	6	1	5	1	6	1	2	4			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr11:71906977C>A	ENST00000393679.1	+	5	966	c.530C>A	c.(529-531)cCt>cAt	p.P177H	FOLR1_ENST00000393676.3_Missense_Mutation_p.P177H|FOLR1_ENST00000312293.4_Missense_Mutation_p.P177H|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Missense_Mutation_p.P177H			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	177					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|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)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GCCTGCCAACCTTTCCATTTC	0.552																																					p.P177H													.	.			0			c.C530A												101	97	98					11																	71906977		2200	4293	6493	SO:0001583	missense	2348	exon4			GCCAACCTTTCCA	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.530C>A	11.37:g.71906977C>A	ENSP00000377284:p.Pro177His		121	0	0		85	0.16	14	NM_016729	45	0.33	15	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	c	2.643	-0.283799	0.05642	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.11	1.02	0.19986	Folate receptor-like (1);	0.386760	0.28940	N	0.013649	T	0.72684	0.3491	M	0.62088	1.915	0.09310	N	1	B	0.27700	0.186	B	0.34418	0.182	T	0.63470	-0.6630	10	0.45353	T	0.12	-7.7963	7.9093	0.29780	0.0:0.3678:0.5341:0.0981	.	177	P15328	FOLR1_HUMAN	H	177	ENSP00000308137:P177H;ENSP00000377286:P177H;ENSP00000377284:P177H;ENSP00000377281:P177H	ENSP00000308137:P177H	P	+	2	0	FOLR1	71584625	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.768000	0.04715	0.102000	0.17638	0.563000	0.77884	CCT			0.552	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396773.1		NM_016725		A	71906977	C	A	71906977	3	1	108	1	0	0	0	0	1	0	0	0	5994	681	24	3	544	3	FOLR1	11	71906977	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	4855636	71906977	63099539	45	8065											
RSF1	51773	broad.mit.edu	37	chr11	77378419	77378421	+	In_Frame_Del	DEL	TCC	TCC	-																															gggatggtttgccttcctctTcctcctcctcctcatctgct																										TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr11:77378419_77378421delTCC	ENST00000308488.6	-	16	4169_4171	c.3867_3869delGGA	c.(3865-3870)gaggaa>gaa	p.1289_1290EE>E	RSF1_ENST00000480887.1_In_Frame_Del_p.1037_1038EE>E|RSF1_ENST00000360355.2_In_Frame_Del_p.1258_1259EE>E			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1289	Poly-Glu.				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)			GCCTTCCTCTTCCTCCTCCTCCT	0.517																																					p.1289_1290del													.	RSF1	105		0			c.3867_3869del																																									SO:0001651	inframe_deletion	51773	exon16			TCCTCTTCCTCCT	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.3867_3869delGGA	11.37:g.77378428_77378430delTCC	ENSP00000311513:p.Glu1292del		192	0	0		144	0.05	7	NM_016578	33	0	0	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	In_Frame_Del	DEL	ENST00000308488.6	37	CCDS8253.1																																																																																					0.517	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318075.2		NM_016578		-	77378421	TCC	-	77378419	7	5	108	1	0	1	0	1	0	0	0	0	13722	1783	62	0	460	0	RSF1	11	77378419	In_Frame_Del	DEL	TCC	TCGA-X3-A8G4-01A-11D-A435-10	5471442	77378419	57628097	46	8066											
PIWIL4	143689	mdanderson.org	37	chr11	94337214	94337214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaatatgttgatcctgatGttcagctggtaagtacagga	12	12	11	6	0	1	2	1	2	0	0	2	3	2	3	1	2	3	6	1	2	4	5			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr11:94337214G>T	ENST00000299001.6	+	13	1841	c.1630G>T	c.(1630-1632)Gtt>Ttt	p.V544F	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	544					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)				TGATCCTGATGTTCAGCTGGT	0.313																																					p.V544F													.	.			0			c.G1630T												95	95	95					11																	94337214		2198	4296	6494	SO:0001583	missense	143689	exon13			CCTGATGTTCAGC	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.1630G>T	11.37:g.94337214G>T	ENSP00000299001:p.Val544Phe		89	0	0		49	0.06	3	NM_152431	0		0	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	4.105	0.017564	0.07959	.	.	ENSG00000134627	ENST00000299001	T	0.04234	3.67	5.11	1.04	0.20106	Ribonuclease H-like (1);	0.373259	0.21862	N	0.068016	T	0.05547	0.0146	M	0.67953	2.075	0.18873	N	0.999985	P	0.43973	0.823	B	0.38880	0.284	T	0.29058	-1.0024	10	0.51188	T	0.08	-21.4306	5.2079	0.15300	0.2674:0.3074:0.4251:0.0	.	544	Q7Z3Z4	PIWL4_HUMAN	F	544	ENSP00000299001:V544F	ENSP00000299001:V544F	V	+	1	0	PIWIL4	93976862	0.019000	0.18553	0.717000	0.30585	0.031000	0.12232	0.026000	0.13599	0.749000	0.32854	-0.126000	0.14955	GTT			0.313	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396388.1		NM_152431		T	94337214	G	T	94337214	3	4	108	1	0	0	0	0	1	0	0	0	11977	1377	48	3	1680	3	PIWIL4	11	94337214	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	16958795	94337214	40669302	47	8067											
ARHGAP32	9743	mdanderson.org	37	chr11	128839438	128839438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcttggtgtgccctgtgCtcaggaagactgcagcccat	6	11	12	12	0	2	1	1	0	1	1	2	2	2	2	2	2	4	3	2	2	1	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr11:128839438C>T	ENST00000310343.9	-	22	5627	c.5628G>A	c.(5626-5628)gaG>gaA	p.E1876E	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.E1527E|ARHGAP32_ENST00000392657.3_Silent_p.E1527E	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1876	Interaction with FYN.				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						GTGCCCTGTGCTCAGGAAGAC	0.577																																					p.E1876E													.	.			0			c.G5628A												75	67	70					11																	128839438		2201	4297	6498	SO:0001819	synonymous_variant	9743	exon22			CCTGTGCTCAGGA	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.5628G>A	11.37:g.128839438C>T			52	0	0		42	0.07	3	NM_001142685	2	0	0	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1																																																																																					0.577	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386151.3		NM_014715		T	128839438	C	T	128839438	2	4	108	1	0	0	0	0	0	0	0	1	881	796	28	2		2	ARHGAP32	11	128839438	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	34502224	128839438	6167078	48	8068											
IGSF9B	22997	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	133789875	133789875	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggacggcgtagactttcGagaaaagctgactgcagccg	10	8	14	9	4	0	3	0	1	0	2	1	5	0	4	1	2	3	3	1	2	3	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr11:133789875G>A	ENST00000321016.8	-	18	3975	c.3745C>T	c.(3745-3747)Cga>Tga	p.R1249*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.R1249*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1249	Pro-rich.				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)		GTAGACTTTCGAGAAAAGCTG	0.692																																					p.R1249X													IGSF9B_ENST00000321016,NS,carcinoma,+1,2	IGSF9B_ENST00000321016	1	2	0			c.C3745T												19	25	23					11																	133789875		1867	4091	5958	SO:0001587	stop_gained	22997	exon18			ACTTTCGAGAAAA	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.3745C>T	11.37:g.133789875G>A	ENSP00000317980:p.Arg1249*		88	0	0		53	0.17	9	NM_014987	1	0	0	G5EA26	Nonsense_Mutation	SNP	ENST00000321016.8	37		.	.	.	.	.	.	.	.	.	.	G	39	7.606933	0.98387	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	.	.	.	5.11	3.11	0.35812	.	0.165528	0.28828	N	0.014006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	9.7797	0.40640	0.0781:0.1407:0.7812:0.0	.	.	.	.	X	1249;1091	.	ENSP00000317980:R1249X	R	-	1	2	IGSF9B	133295085	1.000000	0.71417	0.603000	0.28903	0.180000	0.23129	3.412000	0.52679	1.152000	0.42452	0.555000	0.69702	CGA			0.692	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				XM_290502		A	133789875	G	A	133789875	4	1	108	1	0	0	0	0	0	1	0	0	7621	1066	37	1	312	1	IGSF9B	11	133789875	Nonsense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	4950437	133789875	1216641	49	8069											
PIK3C2G	5288	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	18544127	18544127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagaagtaatcttgaagaGccactaaaggagtgtataaa	19	9	9	4	0	1	3	0	1	1	2	1	4	1	4	1	1	1	2	1	1	10	6			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr12:18544127G>T	ENST00000266497.5	+	13	1982	c.1944G>T	c.(1942-1944)gaG>gaT	p.E648D	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E689D|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.E648D			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	648	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)				ATCTTGAAGAGCCACTAAAGG	0.383																																					p.E648D													.	.			0			c.G1944T												73	70	71					12																	18544127		1833	4088	5921	SO:0001583	missense	5288	exon14			TGAAGAGCCACTA	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.1944G>T	12.37:g.18544127G>T	ENSP00000266497:p.Glu648Asp		53	0	0		113	0.05	6	NM_004570	0		0	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	9.187	1.025155	0.19433	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.61392	0.11;0.11;0.12	5.03	2.72	0.32119	Phosphoinositide 3-kinase, accessory (PIK) domain (2);Armadillo-type fold (1);	0.241676	0.33382	N	0.004976	T	0.62478	0.2431	L	0.51422	1.61	0.36036	D	0.83977	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.976;0.96;0.976	T	0.63296	-0.6669	10	0.21540	T	0.41	-22.1581	6.0048	0.19541	0.6577:0.0:0.3423:0.0	.	688;689;648	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	D	648;648;689	ENSP00000404845:E648D;ENSP00000266497:E648D;ENSP00000445381:E689D	ENSP00000266497:E648D	E	+	3	2	PIK3C2G	18435394	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	1.807000	0.38902	0.502000	0.28037	-0.312000	0.09012	GAG			0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401316.1		NM_004570		T	18544127	G	T	18544127	3	4	108	1	0	0	0	0	1	0	0	0	11928	962	34	2	1994	2	PIK3C2G	12	18544127	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		18544127	115307768	50	8070											
PLCZ1	89869	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	18872383	18872383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttacatatccccaaaggTcacttggtcccaataattga	13	11	5	12	0	1	1	1	1	0	0	3	1	3	1	4	2	1	0	4	2	5	5			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr12:18872383T>C	ENST00000266505.7	-	5	814	c.551A>G	c.(550-552)gAc>gGc	p.D184G	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.D182G|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.D47G					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCCCCAAAGGTCACTTGGTCC	0.308																																					p.D184G													.	.			0			c.A551G												51	52	52					12																	18872383		2202	4288	6490	SO:0001583	missense	89869	exon5			CAAAGGTCACTTG	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.551A>G	12.37:g.18872383T>C	ENSP00000266505:p.Asp184Gly		186	0	0		419	0.14	60	NM_033123	0		0		Missense_Mutation	SNP	ENST00000266505.7	37	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.855239	0.51376	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541695	T;T;T	0.53206	0.63;0.63;0.63	5.28	5.28	0.74379	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.055738	0.64402	D	0.000001	T	0.54095	0.1837	M	0.64630	1.985	0.37168	D	0.902898	P	0.37061	0.58	B	0.44108	0.441	T	0.65100	-0.6250	10	0.72032	D	0.01	.	14.3734	0.66857	0.0:0.0:0.0:1.0	.	184	Q86YW0	PLCZ1_HUMAN	G	184;182;47	ENSP00000266505:D184G;ENSP00000402358:D182G;ENSP00000443349:D47G	ENSP00000266505:D184G	D	-	2	0	PLCZ1	18763650	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.922000	0.56462	1.994000	0.58287	0.482000	0.46254	GAC			0.308	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000401667.3		NM_033123		C	18872383	T	C	18872383	3	2	108	1	0	0	0	0	1	0	0	0	12061	1667	58	4	1319	4	PLCZ1	12	18872383	Missense_Mutation	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10	328256	18872383	114979512	51	8071											
ABCC9	10060	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	22012586	22012586	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctctgcctctgtcccccActcaggttgatgccctagag	6	12	8	15	0	3	2	1	1	2	1	5	2	4	2	4	1	2	1	4	1	1	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr12:22012586A>T	ENST00000261201.4	-	20	2438	c.2439T>A	c.(2437-2439)agT>agA	p.S813R	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.S813R|ABCC9_ENST00000345162.2_Missense_Mutation_p.S777R	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	813	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	TCTGTCCCCCACTCAGGTTGA	0.388																																					p.S813R													.	.			0			c.T2439A												173	173	173					12																	22012586		2203	4300	6503	SO:0001583	missense	10060	exon20			TCCCCCACTCAGG	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.2439T>A	12.37:g.22012586A>T	ENSP00000261201:p.Ser813Arg		141	0	0		336	0.07	23	NM_005691	0		0	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393609	0.62066	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	4.71	3.44	0.39384	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	H	0.99211	4.47	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98032	1.0377	10	0.87932	D	0	-17.5591	6.7847	0.23668	0.7823:0.0:0.2177:0.0	.	813;813	O60706;O60706-2	ABCC9_HUMAN;.	R	813;440;813;777	ENSP00000261200:S813R;ENSP00000440521:S440R;ENSP00000261201:S813R;ENSP00000261202:S777R	ENSP00000261200:S813R	S	-	3	2	ABCC9	21903853	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.961000	0.40432	0.704000	0.31869	0.383000	0.25322	AGT			0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000402230.1		NM_005691		T	22012586	A	T	22012586	3	4	108	1	0	0	0	0	1	0	0	0	59	156	6	5	2428	5	ABCC9	12	22012586	Missense_Mutation	SNP	A	TCGA-X3-A8G4-01A-11D-A435-10	3140203	22012586	111839309	52	8072											
LRRK2	120892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	40713816	40713816	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaaagtggaaggttgTccaaaacaccctaagggcat	15	7	11	8	0	0	1	0	1	0	0	1	2	1	2	2	3	1	2	2	3	5	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr12:40713816T>A	ENST00000298910.7	+	34	4912	c.4854T>A	c.(4852-4854)tgT>tgA	p.C1618*	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1618					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)			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)				TGGAAGGTTGTCCAAAACACC	0.308											OREG0003827	type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.C1618X													.	.			0			c.T4854A												61	72	68					12																	40713816		2201	4298	6499	SO:0001587	stop_gained	120892	exon34			AGGTTGTCCAAAA	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.4854T>A	12.37:g.40713816T>A	ENSP00000298910:p.Cys1618*		305	0	0	895	376	0.2	75	NM_198578	1	0	0	A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	41	9.139492	0.99078	.	.	ENSG00000188906	ENST00000298910	.	.	.	5.54	-0.887	0.10587	.	0.947166	0.09016	N	0.860821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.8654	0.46851	0.0:0.414:0.0:0.586	.	.	.	.	X	1618	.	ENSP00000298910:C1618X	C	+	3	2	LRRK2	39000083	0.004000	0.15560	0.077000	0.20336	0.919000	0.55068	0.395000	0.20850	-0.154000	0.11118	-0.334000	0.08254	TGT			0.308	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000277179.1		XM_058513		A	40713816	T	A	40713816	4	1	108	1	0	0	0	0	0	1	0	0	9049	1673	58	5	4988	5	LRRK2	12	40713816	Nonsense_Mutation	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10	18701230	40713816	93138079	53	8073											
ITGA7	3679	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr12	56088587	56088587	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagggcccggacccctGagtagtgcagtgagtcagga	8	6	16	11	1	1	2	1	2	0	0	2	4	2	4	4	4	1	2	4	4	1	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr12:56088587G>T	ENST00000555728.1	-	16	2331	c.2303C>A	c.(2302-2304)tCa>tAa	p.S768*	ITGA7_ENST00000257879.6_Nonsense_Mutation_p.S724*|ITGA7_ENST00000257880.7_Nonsense_Mutation_p.S768*|ITGA7_ENST00000394229.2_Nonsense_Mutation_p.S724*|ITGA7_ENST00000452168.2_Nonsense_Mutation_p.S631*|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.S728*|ITGA7_ENST00000394230.2_Nonsense_Mutation_p.S728*|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.S718*			Q13683	ITA7_HUMAN	integrin, alpha 7	768					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						CCGGACCCCTGAGTAGTGCAG	0.647																																					p.S728X													.	.			0			c.C2183A												52	52	52					12																	56088587		2203	4300	6503	SO:0001587	stop_gained	3679	exon15			ACCCCTGAGTAGT		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.2303C>A	12.37:g.56088587G>T	ENSP00000452387:p.Ser768*		93	0	0		111	0.06	7	NM_001144996	31	0	0	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Nonsense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	G	37	6.044430	0.97231	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	.	.	.	4.66	3.74	0.42951	.	0.722636	0.12319	N	0.479478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4342	0.50058	0.0971:0.0:0.9029:0.0	.	.	.	.	X	728;724;718;631;768;728;724;768	.	ENSP00000257879:S724X	S	-	2	0	ITGA7	54374854	1.000000	0.71417	0.995000	0.50966	0.591000	0.36615	5.687000	0.68219	2.297000	0.77311	0.555000	0.69702	TCA			0.647	ITGA7-014	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000410138.1		NM_002206		T	56088587	G	T	56088587	4	4	108	1	0	0	0	0	0	1	0	0	7896	1294	45	3	1286	3	ITGA7	12	56088587	Nonsense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	15374771	56088587	77763308	54	8074											
DDX54	79039	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	113623183	113623183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctcggcgcttccggagcCctttcttcttcctccactgg	2	12	9	18	4	2	0	0	0	2	0	6	1	5	1	5	3	1	1	5	3	0	4			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr12:113623183C>A	ENST00000306014.5	-	1	101	c.74G>T	c.(73-75)gGg>gTg	p.G25V	C12orf52_ENST00000548278.1_5'Flank|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_5'Flank|DDX54_ENST00000314045.7_Missense_Mutation_p.G25V|C12orf52_ENST00000552495.1_5'Flank	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	25					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTCCGGAGCCCTTTCTTCTT	0.721																																					p.G25V													.	.			0			c.G74T												6	8	7					12																	113623183		2141	4216	6357	SO:0001583	missense	79039	exon1			CGGAGCCCTTTCT	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.74G>T	12.37:g.113623183C>A	ENSP00000304072:p.Gly25Val		56	0	0		42	0.14	6	NM_024072	25	0.08	2	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660266	0.29515	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.09255	3.0;3.0	3.63	3.63	0.41609	.	0.593238	0.16025	N	0.233144	T	0.09247	0.0228	N	0.22421	0.69	0.48571	D	0.99967	P;P	0.45176	0.852;0.769	P;B	0.45232	0.474;0.282	T	0.31779	-0.9931	10	0.22109	T	0.4	.	11.1002	0.48170	0.0:1.0:0.0:0.0	.	25;25	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	V	25	ENSP00000323858:G25V;ENSP00000304072:G25V	ENSP00000304072:G25V	G	-	2	0	DDX54	112107566	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	2.992000	0.49417	2.333000	0.79357	0.462000	0.41574	GGG			0.721	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405435.1		NM_024072		A	113623183	C	A	113623183	3	1	108	1	0	0	0	0	1	0	0	0	4374	623	22	3	2654	3	DDX54	12	113623183	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	57534596	113623183	20228712	55	8075											
EP400	57634	broad.mit.edu	37	chr12	132446460	132446460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggaggaggaggaGgaagaggaggaagaaaaatc	20	1	19	1	0	0	4	0	0	0	4	1	12	0	11	0	7	0	0	0	7	6	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr12:132446460G>A	ENST00000333577.4	+	2	1405	c.1296G>A	c.(1294-1296)gaG>gaA	p.E432E	EP400_ENST00000389561.2_Silent_p.E432E|EP400_ENST00000330386.6_Silent_p.E432E|EP400_ENST00000332482.4_Silent_p.E432E|EP400_ENST00000389562.2_Silent_p.E432E			Q96L91	EP400_HUMAN	E1A binding protein p400	432	Poly-Glu.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aggaggaggaggaagaggagg	0.383																																					p.E432E													EP400,NS,malignant_melanoma,0,1	EP400	370	1	0			c.G1296A												53	52	52					12																	132446460		2203	4300	6503	SO:0001819	synonymous_variant	57634	exon2			GGAGGAGGAAGAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1296G>A	12.37:g.132446460G>A			56	0	0		62	0.05	3	NM_015409	5	0	0	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																						0.383	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015409		A	132446460	G	A	132446460	2	1	108	1	0	0	0	0	0	0	0	1	5156	991	35	3		3	EP400	12	132446460	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	18823277	132446460	1405435	56	8076											
FRY	10129	hgsc.bcm.edu	37	chr13	32735280	32735280	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttgtcttctaattctaGgggtgagagaaagccaaaaa	15	12	9	5	0	3	2	0	1	3	1	3	3	3	2	1	2	1	0	1	2	6	6			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr13:32735280G>T	ENST00000380250.3	+	17	2280		c.e17-1			NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)							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)		TCTAATTCTAGGGGTGAGAGA	0.353																																					.													.	.			0			c.1785-1G>T												119	108	111					13																	32735280		1839	4086	5925	SO:0001630	splice_region_variant	10129	exon17			ATTCTAGGGGTGA	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.1785-1G>T	13.37:g.32735280G>T			77	0	0		67	0.06	4	NM_023037	0		0	Q9Y3N6	Splice_Site	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413017	0.83449	.	.	ENSG00000073910	ENST00000380250	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRY	31633280	1.000000	0.71417	0.992000	0.48379	0.819000	0.46315	9.869000	0.99810	2.680000	0.91292	0.655000	0.94253	.			0.353	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044405.1		NM_023037	Intron	T	32735280	G	T	32735280	5	4	108	1	0	0	0	0	0	0	1	0	6076	1014	35	3	1850	3	FRY	13	32735280	Splice_Site	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		32735280	82434598	57	8077											
IRF9	10379	mdanderson.org	37	chr14	24634116	24634116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccaggcccgcatctgctgCccagcaacgagtgcgtggag	7	5	15	14	3	1	0	0	0	1	0	1	2	1	1	3	3	5	3	3	3	1	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr14:24634116C>T	ENST00000396864.3	+	7	1230	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	IRF9_ENST00000557894.1_Missense_Mutation_p.P213S|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	315					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCATCTGCTGCCCAGCAACGA	0.632																																					p.P315S													.	.			0			c.C943T												57	58	57					14																	24634116		2203	4300	6503	SO:0001583	missense	10379	exon7			CTGCTGCCCAGCA	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.943C>T	14.37:g.24634116C>T	ENSP00000380073:p.Pro315Ser		43	0	0		30	0.1	3	NM_006084	288	0	0	D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661665	0.67700	.	.	ENSG00000213928	ENST00000396864	D	0.95103	-3.61	5.71	5.71	0.89125	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.344507	0.23577	U	0.046690	D	0.94072	0.8100	M	0.63428	1.95	0.31343	N	0.683404	P	0.35124	0.485	B	0.40741	0.339	D	0.94276	0.7515	10	0.48119	T	0.1	-17.2048	15.3433	0.74314	0.0:1.0:0.0:0.0	.	315	Q00978	IRF9_HUMAN	S	315	ENSP00000380073:P315S	ENSP00000380073:P315S	P	+	1	0	IRF9	23703956	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.616000	0.46376	2.700000	0.92200	0.462000	0.41574	CCC			0.632	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071927.2				T	24634116	C	T	24634116	3	4	108	1	0	0	0	0	1	0	0	0	7852	739	26	2	965	2	IRF9	14	24634116	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10		24634116	82715424	58	8078											
MAP3K9	4293	mdanderson.org	37	chr14	71275530	71275530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgccgccgggctggcagCggctggagaaggcgctgcgc	4	4	18	15	6	0	1	0	0	0	1	1	2	0	1	3	5	2	4	3	5	1	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr14:71275530C>T	ENST00000554752.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R120H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R120H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	120					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGGCTGGCAGCGGCTGGAGAA	0.721																																					p.R120H	GBM(114;411 1587 13539 28235 50070)												.	.			0			c.G359A												9	11	11					14																	71275530		2025	4064	6089	SO:0001583	missense	4293	exon1			TGGCAGCGGCTGG	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.359G>A	14.37:g.71275530C>T	ENSP00000451612:p.Arg120His		30	0	0		38	0.08	3	NM_033141	5	0	0	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37		.	.	.	.	.	.	.	.	.	.	c	13.73	2.323685	0.41096	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	T;T	0.30182	1.54;1.54	3.36	2.45	0.29901	Src homology-3 domain (1);	0.321128	0.27270	U	0.020131	T	0.22475	0.0542	L	0.29908	0.895	0.80722	D	1	B;B	0.13594	0.003;0.008	B;B	0.10450	0.002;0.005	T	0.05566	-1.0877	10	0.44086	T	0.13	.	12.3395	0.55085	0.0:0.8276:0.1724:0.0	.	120;120	P80192;P80192-4	M3K9_HUMAN;.	H	120	ENSP00000451612:R120H;ENSP00000370649:R120H	ENSP00000005198:R120H	R	-	2	0	MAP3K9	70345283	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	1.247000	0.32815	0.722000	0.32252	0.556000	0.70494	CGC			0.721	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000412550.2				T	71275530	C	T	71275530	3	4	108	1	0	0	0	0	1	0	0	0	9273	768	27	1	3049	1	MAP3K9	14	71275530	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	46641414	71275530	36074010	59	8079											
PAPLN	89932	mdanderson.org	37	chr14	73727426	73727426	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgcctaggtacgggtgCtgccctgacagggtatctgt	5	12	14	10	1	2	1	0	1	2	0	2	1	2	1	2	3	4	3	2	3	3	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr14:73727426C>T	ENST00000554301.1	+	16	2158	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	PAPLN_ENST00000555445.1_Silent_p.C665C|PAPLN_ENST00000340738.5_Silent_p.C638C|PAPLN_ENST00000381166.3_Silent_p.C665C|PAPLN_ENST00000427855.1_Silent_p.C665C			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	665						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGTACGGGTGCTGCCCTGACA	0.662																																					p.C638C													.	.			0			c.C1914T												63	57	59					14																	73727426		2203	4300	6503	SO:0001819	synonymous_variant	89932	exon16			CGGGTGCTGCCCT	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1995C>T	14.37:g.73727426C>T			33	0	0		42	0.07	3	NM_173462	6	0	0	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37																																																																																						0.662	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000413182.1		NM_173462		T	73727426	C	T	73727426	2	4	108	1	0	0	0	0	0	0	0	1	11445	805	28	2		2	PAPLN	14	73727426	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	2451896	73727426	33622114	60	8080											
MARK3	4140	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr14	103946751	103946751	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatctggtggaatgacaCgacgaaatacttatgtttgc	12	11	10	8	2	1	1	0	1	1	0	1	4	1	2	0	2	3	2	0	2	4	3	rs372126503		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr14:103946751C>T	ENST00000429436.2	+	14	2020	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Nonsense_Mutation_p.R527*|MARK3_ENST00000216288.7_Nonsense_Mutation_p.R488*|MARK3_ENST00000440884.3_Nonsense_Mutation_p.R425*|MARK3_ENST00000553942.1_Nonsense_Mutation_p.R504*|MARK3_ENST00000303622.9_Nonsense_Mutation_p.R504*|MARK3_ENST00000335102.5_Nonsense_Mutation_p.R527*	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	504						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TGGAATGACACGACGAAATAC	0.343																																					p.R504X													.	MARK3	86		0			c.C1510T							C	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,3718		0,0,1859	170	166	167		1510,1510,1462,1273,1510	3.9	0.9	14		167	1,8229		0,1,4114	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	MARK3	NM_001128918.1,NM_001128919.1,NM_001128920.1,NM_001128921.1,NM_002376.5	,,,,	0,1,5973	TT,TC,CC		0.0122,0.0,0.0084	,,,,	504/754,504/745,488/714,425/660,504/730	103946751	1,11947	1859	4115	5974	SO:0001587	stop_gained	4140	exon14			ATGACACGACGAA	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1510C>T	14.37:g.103946751C>T	ENSP00000411397:p.Arg504*		208	0.0048076923	1		233	0.12	27	NM_001128919	88	0.08	7	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Nonsense_Mutation	SNP	ENST00000429436.2	37	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	C	44	10.748922	0.99460	0.0	1.22E-4	ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	.	.	.	5.81	3.91	0.45181	.	0.105865	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8154	0.70031	0.2632:0.7368:0.0:0.0	.	.	.	.	X	527;153;425;527;504;504;488;504;39	.	ENSP00000216288:R504X	R	+	1	2	MARK3	103016504	0.019000	0.18553	0.898000	0.35279	0.972000	0.66771	0.233000	0.17911	0.731000	0.32448	0.644000	0.83932	CGA			0.343	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415144.1		NM_001128918		T	103946751	C	T	103946751	4	4	108	1	0	0	0	0	0	1	0	0	9330	528	19	1	1564	1	MARK3	14	103946751	Nonsense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	30219325	103946751	3402789	61	8081											
CKMT1B	1159	hgsc.bcm.edu	37	chr15	43891085	43891085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacgtggtactggaggaGtggacactgctgctacaggc	12	7	14	8	1	0	0	0	0	0	0	0	3	0	3	0	5	5	3	0	5	4	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr15:43891085G>T	ENST00000441322.1	+	8	1432	c.1072G>T	c.(1072-1074)Gtg>Ttg	p.V358L	CKMT1B_ENST00000300283.6_Missense_Mutation_p.V358L			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	358	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		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;3.56e-07)	Creatine(DB00148)	TACTGGAGGAGTGGACACTGC	0.488																																					p.V358L													.	.			0			c.G1072T												101	112	108					15																	43891085		2199	4297	6496	SO:0001583	missense	1159	exon9			GGAGGAGTGGACA	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1072G>T	15.37:g.43891085G>T	ENSP00000413255:p.Val358Leu		99	0	0		94	0.04	4	NM_020990	15	0	0	B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388974	0.82902	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.11495	2.77;2.77	4.58	4.58	0.56647	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	H	0.96889	3.9	0.80722	D	1	P;P	0.52463	0.953;0.559	P;P	0.51453	0.67;0.577	T	0.61695	-0.7010	10	0.51188	T	0.08	0.1549	17.551	0.87875	0.0:0.0:1.0:0.0	.	389;358	P12532-2;P12532	.;KCRU_HUMAN	L	358	ENSP00000300283:V358L;ENSP00000413255:V358L	ENSP00000300283:V358L	V	+	1	0	CKMT1B	41678377	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.800000	0.85949	2.373000	0.80994	0.491000	0.48974	GTG			0.488	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000133147.2		NM_020990		T	43891085	G	T	43891085	3	4	108	1	0	0	0	0	1	0	0	0	3452	1029	36	3	1102	3	CKMT1B	15	43891085	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		43891085	58640307	62	8082											
TELO2	9894	mdanderson.org	37	chr16	1552719	1552719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggatttgcagggctgcGccagagagccctggtggccg	5	7	19	10	2	0	1	0	0	0	1	0	3	0	2	3	5	3	2	3	5	0	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr16:1552719G>A	ENST00000262319.6	+	14	2006	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	576					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGGGCTGCGCCAGAGAGCC	0.667																																					p.R576H													.	.			0			c.G1727A												98	104	102					16																	1552719		2199	4300	6499	SO:0001583	missense	9894	exon14			GGCTGCGCCAGAG	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1727G>A	16.37:g.1552719G>A	ENSP00000262319:p.Arg576His		44	0	0		37	0.08	3	NM_016111	50	0	0	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623748	0.66901	.	.	ENSG00000100726	ENST00000262319	T	0.33654	1.4	5.3	5.3	0.74995	Telomere length regulation protein, conserved domain (1);	0.047684	0.85682	D	0.000000	T	0.68302	0.2986	M	0.89968	3.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.75619	-0.3255	10	0.72032	D	0.01	-16.5969	17.7218	0.88353	0.0:0.0:1.0:0.0	.	576	Q9Y4R8	TELO2_HUMAN	H	576	ENSP00000262319:R576H	ENSP00000262319:R576H	R	+	2	0	TELO2	1492720	1.000000	0.71417	0.955000	0.39395	0.033000	0.12548	8.260000	0.89857	2.502000	0.84385	0.462000	0.41574	CGC			0.667	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103602.2		NM_016111		A	1552719	G	A	1552719	3	1	108	1	0	0	0	0	1	0	0	0	15780	1087	38	1	1777	1	TELO2	16	1552719	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		1552719	88802034	63	8083											
NDE1	54820	mdanderson.org	37	chr16	15790697	15790697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacggccaagcagcaccagCgtgcctttgggtgataaggg	10	6	15	10	2	0	2	0	1	0	1	0	2	0	2	3	3	4	2	3	3	2	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr16:15790697C>T	ENST00000396353.2	+	9	1753	c.927C>T	c.(925-927)agC>agT	p.S309S	NDE1_ENST00000396355.1_Silent_p.S309S|NDE1_ENST00000342673.5_Silent_p.S309S|NDE1_ENST00000396354.1_Silent_p.S309S			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	309					centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GCAGCACCAGCGTGCCTTTGG	0.617																																					p.S309S													.	.			0			c.C927T												75	76	76					16																	15790697		2197	4300	6497	SO:0001819	synonymous_variant	54820	exon9			CACCAGCGTGCCT	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.927C>T	16.37:g.15790697C>T			46	0	0		46	0.07	3	NM_001143979	72	0	0	Q49AQ2	Silent	SNP	ENST00000396353.2	37																																																																																						0.617	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_017668		T	15790697	C	T	15790697	2	4	108	1	0	0	0	0	0	0	0	1	10260	767	27	1		1	NDE1	16	15790697	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	14237978	15790697	74564056	64	8084											
EEF2K	29904	bcgsc.ca;mdanderson.org	37	chr16	22274454	22274454	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgagaatagtggggacagCggataccccagtgagaagcg	12	6	15	8	2	1	2	0	2	1	2	1	6	1	4	2	3	3	0	2	3	4	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr16:22274454C>T	ENST00000263026.5	+	12	1797	c.1323C>T	c.(1321-1323)agC>agT	p.S441S		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	441					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)		GTGGGGACAGCGGATACCCCA	0.567																																					p.S441S	NSCLC(195;1411 2157 20319 27471 51856)												.	EEF2K	142		0			c.C1323T												80	67	71					16																	22274454		2197	4300	6497	SO:0001819	synonymous_variant	29904	exon12			GGACAGCGGATAC	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.1323C>T	16.37:g.22274454C>T			97	0	0		70	0.07	5	NM_013302	5	0	0	Q8N588	Silent	SNP	ENST00000263026.5	37	CCDS10604.1																																																																																					0.567	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211580.2		NM_013302		T	22274454	C	T	22274454	2	4	108	1	0	0	0	0	0	0	0	1	4935	767	27	1		1	EEF2K	16	22274454	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	6483757	22274454	68080299	65	8085											
ERN2	5347	mdanderson.org	37	chr16	23703328	23703328	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgctccaaaagaaggggtGggccagcacctggggggcag	9	5	17	10	0	1	1	0	0	1	1	2	1	2	1	3	6	2	3	3	6	3	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr16:23703328G>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Missense_Mutation_p.H826N|ERN2_ENST00000457008.2_Missense_Mutation_p.H726N	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AAGAAGGGGTGGGCCAGCACC	0.607																																					p.H826N	Colon(12;240 564 27038 33155)												ERN2_ENST00000256797,colon,carcinoma,0,1	ERN2_ENST00000256797	0	1	0			c.C2476A												125	150	141					16																	23703328		2197	4300	6497	SO:0001628	intergenic_variant	10595	exon19			AGGGGTGGGCCAG		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23703328G>T			45	0	0		44	0.07	3	NM_033266	2	0	0	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996887	0.93167	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.59083	0.29;0.29	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83766	0.0217	10	0.72032	D	0.01	.	17.0183	0.86425	0.0:0.0:1.0:0.0	.	726;778	E7ETG2;A5YM65	.;.	N	826;726	ENSP00000256797:H826N;ENSP00000413812:H726N	ENSP00000256797:H826N	H	-	1	0	ERN2	23610829	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.415000	0.97375	2.608000	0.88229	0.655000	0.94253	CAC			0.607	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214057.2		NM_005030		T	23703328	G	T	23703328	1	4	108	0	1	0	0	0	0	0	0	0	5245	1348	47	3		3	ERN2	16	23703328	IGR	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	1428874	23703328	66651425	66	8086											
IRX3	79191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	54319129	54319129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctagctcgcgtttgcCgtcctcctcgtcctcctctt	2	14	7	18	4	2	0	0	0	2	0	8	0	6	0	5	0	3	3	5	0	1	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr16:54319129C>T	ENST00000329734.3	-	2	1376	c.664G>A	c.(664-666)Ggc>Agc	p.G222S		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	222	Asp/Glu-rich (acidic).			G -> C (in Ref. 1; AAQ16549). {ECO:0000305}.	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						TCGCGTTTGCCGtcctcctcg	0.652																																					p.G222S	GBM(143;1830 1866 4487 4646 37383)												IRX3,NS,carcinoma,+1,1	IRX3	1	1	0			c.G664A												65	42	50					16																	54319129		2198	4300	6498	SO:0001583	missense	79191	exon2			GTTTGCCGTCCTC	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.664G>A	16.37:g.54319129C>T	ENSP00000331608:p.Gly222Ser		42	0	0		37	0.16	6	NM_024336	9	0	0	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	0.198	-1.047338	0.01981	.	.	ENSG00000177508	ENST00000329734	T	0.52295	0.67	4.44	-8.89	0.00785	.	1.137180	0.06750	N	0.779806	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.22487	-1.0215	10	0.18276	T	0.48	-0.1425	8.9126	0.35563	0.1138:0.6252:0.0:0.261	.	222	P78415	IRX3_HUMAN	S	222	ENSP00000331608:G222S	ENSP00000331608:G222S	G	-	1	0	IRX3	52876630	0.232000	0.23762	0.001000	0.08648	0.000000	0.00434	0.513000	0.22770	-2.071000	0.00880	-0.251000	0.11542	GGC			0.652	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256910.2				T	54319129	C	T	54319129	3	4	108	1	0	0	0	0	1	0	0	0	7860	652	23	1	853	1	IRX3	16	54319129	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	30615801	54319129	36035624	67	8087											
LRRC36	55282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67416139	67416139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagttgccattctccaTgaaagtcagaggtaggagag	14	8	12	7	0	2	4	1	1	1	3	3	5	2	4	2	2	1	2	2	2	3	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr16:67416139T>A	ENST00000329956.6	+	13	2053	c.2034T>A	c.(2032-2034)caT>caA	p.H678Q	LRRC36_ENST00000541146.1_Missense_Mutation_p.H150Q|LRRC36_ENST00000290940.7_3'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.H557Q|LRRC36_ENST00000435835.3_Missense_Mutation_p.H453Q	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	678										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)		CCATTCTCCATGAAAGTCAGA	0.443																																					p.H678Q													LRRC36,scalp,carcinoma,+2,1	LRRC36	2	1	0			c.T2034A												57	55	56					16																	67416139		2198	4300	6498	SO:0001583	missense	55282	exon13			TCTCCATGAAAGT	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.2034T>A	16.37:g.67416139T>A	ENSP00000329943:p.His678Gln		130	0	0		113	0.27	31	NM_018296	0		0	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	T	2.254	-0.370756	0.05069	.	.	ENSG00000159708	ENST00000329956;ENST00000541146;ENST00000435835	T;T;T	0.46819	3.6;0.86;1.59	5.73	-10.6	0.00265	.	0.280189	0.34555	N	0.003873	T	0.15696	0.0378	N	0.05441	-0.05	0.19575	N	0.999965	B;B;B;B	0.29136	0.011;0.234;0.01;0.011	B;B;B;B	0.35240	0.006;0.198;0.011;0.006	T	0.37478	-0.9704	10	0.02654	T	1	-4.4746	7.4238	0.27088	0.0977:0.538:0.199:0.1653	.	150;453;557;678	B7Z4G3;B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	Q	678;150;453	ENSP00000329943:H678Q;ENSP00000445861:H150Q;ENSP00000411122:H453Q	ENSP00000329943:H678Q	H	+	3	2	LRRC36	65973640	0.002000	0.14202	0.015000	0.15790	0.273000	0.26683	-1.530000	0.02221	-1.826000	0.01205	-0.899000	0.02877	CAT			0.443	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421770.1		NM_018296		A	67416139	T	A	67416139	3	1	108	1	0	0	0	0	1	0	0	0	9006	1461	51	5	2112	5	LRRC36	16	67416139	Missense_Mutation	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10	13097010	67416139	22938614	68	8088											
C16orf48	84080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67697165	67697165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcacggtggctctgggCtctcagtgagtctgccccag	5	9	13	14	1	4	1	2	1	3	0	5	1	4	1	2	3	2	3	2	3	0	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr16:67697165C>G	ENST00000243878.4	-	7	1261	c.940G>C	c.(940-942)Gcc>Ccc	p.A314P	ACD_ENST00000219251.8_5'Flank|ACD_ENST00000393919.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_3'UTR	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	314	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											TGGCTCTGGGCTCTCAGTGAG	0.607																																					p.A314P													.	.			0			c.G940C												84	78	80					16																	67697165		2198	4300	6498	SO:0001583	missense	84080	exon7			TCTGGGCTCTCAG	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.940G>C	16.37:g.67697165C>G	ENSP00000243878:p.Ala314Pro		54	0	0		68	0.16	11	NM_032140	43	0.19	8	Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420096	0.62622	.	.	ENSG00000124074	ENST00000243878	.	.	.	4.94	4.94	0.65067	.	0.313591	0.32081	N	0.006618	T	0.59932	0.2230	L	0.55481	1.735	0.31312	N	0.687003	D;D	0.76494	0.996;0.999	P;D	0.67548	0.852;0.952	T	0.64141	-0.6477	9	0.48119	T	0.1	-3.4915	11.3289	0.49465	0.0:0.9157:0.0:0.0843	.	314;196	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	P	314	.	ENSP00000243878:A314P	A	-	1	0	C16orf48	66254666	0.014000	0.17966	0.983000	0.44433	0.863000	0.49368	0.797000	0.26999	2.281000	0.76405	0.561000	0.74099	GCC			0.607	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268884.1		NM_032140		G	67697165	C	G	67697165	3	3	108	1	0	0	0	0	1	0	0	0	1818	797	28	5	104	5	C16orf48	16	67697165	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	281026	67697165	22657588	69	8089											
BANP	54971	mdanderson.org	37	chr16	88014644	88014644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtcactgatttcagttGttttggagaatcatgtagtg	8	17	10	6	0	4	2	3	1	1	1	4	3	4	2	0	1	0	3	0	1	2	5			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr16:88014644G>T	ENST00000393207.1	+	3	294	c.73G>T	c.(73-75)Gtt>Ttt	p.V25F	BANP_ENST00000538234.1_Missense_Mutation_p.V25F|BANP_ENST00000355022.4_Missense_Mutation_p.V25F|BANP_ENST00000355163.5_Missense_Mutation_p.V31F|BANP_ENST00000393208.2_Missense_Mutation_p.V25F|BANP_ENST00000479780.2_Missense_Mutation_p.V25F|BANP_ENST00000286122.7_Missense_Mutation_p.V25F	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	25					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GATTTCAGTTGTTTTGGAGAA	0.343																																					p.V31F													.	.			0			c.G91T												88	80	83					16																	88014644		2198	4300	6498	SO:0001583	missense	54971	exon3			TCAGTTGTTTTGG	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.73G>T	16.37:g.88014644G>T	ENSP00000376902:p.Val25Phe		44	0	0		23	0.13	3	NM_001173540	17	0	0	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	G	9.640	1.138682	0.21123	.	.	ENSG00000172530	ENST00000423252;ENST00000439677;ENST00000286122;ENST00000355163;ENST00000289484;ENST00000454563;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000412691;ENST00000355022;ENST00000436970;ENST00000538234;ENST00000436274;ENST00000456902;ENST00000393207	T;T;T;T;T;T;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;1.18;1.18;1.18;1.18;1.18;1.18	4.56	4.56	0.56223	.	0.062472	0.64402	D	0.000005	T	0.47303	0.1438	N	0.24115	0.695	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	0.976;0.993;0.972;0.997;0.984;1.0	P;P;D;D;P;D	0.91635	0.462;0.877;0.954;0.986;0.904;0.999	T	0.54043	-0.8352	10	0.87932	D	0	.	16.6775	0.85283	0.0:0.0:1.0:0.0	.	25;31;25;25;25;25	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	F	25;31;25;31;25;36;25;25;25;25;25;25;25;25;25;25	ENSP00000401718:V25F;ENSP00000411479:V31F;ENSP00000286122:V25F;ENSP00000347290:V31F;ENSP00000413717:V36F;ENSP00000432508:V25F;ENSP00000376903:V25F;ENSP00000390504:V25F;ENSP00000347125:V25F;ENSP00000399576:V25F;ENSP00000444352:V25F;ENSP00000401454:V25F;ENSP00000410089:V25F;ENSP00000376902:V25F	ENSP00000286122:V25F	V	+	1	0	BANP	86572145	1.000000	0.71417	0.985000	0.45067	0.399000	0.30720	6.927000	0.75840	2.255000	0.74692	0.455000	0.32223	GTT			0.343	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000269166.1		NM_017869		T	88014644	G	T	88014644	3	4	108	1	0	0	0	0	1	0	0	0	1310	1377	48	3	97	3	BANP	16	88014644	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	20317479	88014644	2340109	70	8090											
ZZEF1	23140	mdanderson.org	37	chr17	3916822	3916822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtctggcgacaggccaCgcccaccagccattcccaaa	10	4	9	18	2	1	0	0	0	1	0	2	1	2	0	6	2	1	0	6	2	1	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr17:3916822C>T	ENST00000381638.2	-	52	8624	c.8500G>A	c.(8500-8502)Gtg>Atg	p.V2834M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2834							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						CGACAGGCCACGCCCACCAGC	0.542																																					p.V2834M													.	.			0			c.G8500A												82	76	78					17																	3916822		2203	4300	6503	SO:0001583	missense	23140	exon52			AGGCCACGCCCAC	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.8500G>A	17.37:g.3916822C>T	ENSP00000371051:p.Val2834Met		83	0.0120481928	1		67	0.06	4	NM_015113	14	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237377	0.95240	.	.	ENSG00000074755	ENST00000381638	T	0.33865	1.39	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52931	-0.8509	10	0.87932	D	0	-17.3197	20.3214	0.98679	0.0:1.0:0.0:0.0	.	2834	O43149	ZZEF1_HUMAN	M	2834	ENSP00000371051:V2834M	ENSP00000371051:V2834M	V	-	1	0	ZZEF1	3863571	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	5.600000	0.67599	2.804000	0.96469	0.655000	0.94253	GTG			0.542	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207480.1		NM_015113		T	3916822	C	T	3916822	3	4	108	1	0	0	0	0	1	0	0	0	18278	536	19	1	401	1	ZZEF1	17	3916822	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10		3916822	77278388	71	8091											
SPNS3	201305	mdanderson.org	37	chr17	4352590	4352590	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgtgactggagccctGgggttctgggcccccaagtt	4	11	14	12	0	1	1	0	1	1	0	1	2	1	2	4	4	1	2	4	4	1	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr17:4352590G>T	ENST00000355530.2	+	7	1111	c.831G>T	c.(829-831)ctG>ctT	p.L277L	SPNS3_ENST00000333476.2_Silent_p.L150L|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	277					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTGGAGCCCTGGGGTTCTGGG	0.657																																					p.L277L													.	.			0			c.G831T												84	76	79					17																	4352590		2203	4300	6503	SO:0001819	synonymous_variant	201305	exon7			AGCCCTGGGGTTC		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.831G>T	17.37:g.4352590G>T			41	0	0		33	0.09	3	NM_182538	2	0	0	Q8IZ31	Silent	SNP	ENST00000355530.2	37	CCDS11045.1																																																																																					0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438793.1		NM_182538		T	4352590	G	T	4352590	2	4	108	1	0	0	0	0	0	0	0	1	15099	1335	47	3		3	SPNS3	17	4352590	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	435768	4352590	76842620	72	8092											
NLRP1	22861	mdanderson.org	37	chr17	5462911	5462911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgggccagctctctgcAgctgaagtagaagacatgct	10	8	13	10	0	1	3	0	1	1	2	2	4	1	4	1	2	4	5	1	2	3	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr17:5462911A>G	ENST00000572272.1	-	4	1104	c.1105T>C	c.(1105-1107)Tgc>Cgc	p.C369R	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.C369R|NLRP1_ENST00000269280.4_Missense_Mutation_p.C369R|NLRP1_ENST00000354411.3_Missense_Mutation_p.C369R|NLRP1_ENST00000345221.3_Missense_Mutation_p.C369R|NLRP1_ENST00000262467.5_Missense_Mutation_p.C369R			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	369	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)				AGCTCTCTGCAGCTGAAGTAG	0.582																																					p.C369R													.	.			0			c.T1105C												63	63	63					17																	5462911		2203	4300	6503	SO:0001583	missense	22861	exon4			CTCTGCAGCTGAA	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.1105T>C	17.37:g.5462911A>G	ENSP00000460475:p.Cys369Arg		94	0	0		52	0.06	3	NM_014922	10	0	0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.976630	0.53720	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	4.33	3.25	0.37280	NACHT nucleoside triphosphatase (1);	0.000000	0.44097	D	0.000491	D	0.90273	0.6958	M	0.93283	3.4	0.52099	D	0.999944	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;0.999;1.0;1.0	D	0.89090	0.3482	10	0.87932	D	0	.	6.6379	0.22893	0.8913:0.0:0.1087:0.0	.	369;369;369;369;369	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	R	369	ENSP00000442029:C369R;ENSP00000262467:C369R;ENSP00000269280:C369R;ENSP00000346390:C369R;ENSP00000324366:C369R	ENSP00000262467:C369R	C	-	1	0	NLRP1	5403635	1.000000	0.71417	0.996000	0.52242	0.646000	0.38490	4.706000	0.61845	0.815000	0.34398	0.529000	0.55759	TGC			0.582	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439517.1		NM_033004		G	5462911	A	G	5462911	3	3	108	1	0	0	0	0	1	0	0	0	10488	188	7	4	3447	4	NLRP1	17	5462911	Missense_Mutation	SNP	A	TCGA-X3-A8G4-01A-11D-A435-10	1110321	5462911	75732299	73	8093											
MYH13	8735	mdanderson.org	37	chr17	10236459	10236459	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaatccggatgccctcgagGaccccgttacagcgcagctg	9	6	11	15	4	0	0	0	0	0	0	2	3	1	2	4	2	4	3	4	2	2	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr17:10236459G>T	ENST00000418404.3	-	18	2269	c.2106C>A	c.(2104-2106)gtC>gtA	p.V702V	MYH13_ENST00000252172.4_Silent_p.V702V|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	702	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						TGCCCTCGAGGACCCCGTTAC	0.577																																					p.V702V													.	.			0			c.C2106A												30	35	33					17																	10236459		1920	3900	5820	SO:0001819	synonymous_variant	8735	exon19			CTCGAGGACCCCG	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.2106C>A	17.37:g.10236459G>T			52	0	0		41	0.07	3	NM_003802	0		0	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																					0.577	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		T	10236459	G	T	10236459	2	4	108	1	0	0	0	0	0	0	0	1	10048	1161	41	3		3	MYH13	17	10236459	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	4773548	10236459	70958751	74	8094											
FLII	2314	broad.mit.edu;mdanderson.org	37	chr17	18150241	18150241	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtacctgcagaggaagacGtagcagtcctgcgtgtagaa	11	8	14	8	2	0	3	0	0	0	3	1	4	1	4	2	2	4	5	2	2	5	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr17:18150241G>A	ENST00000327031.4	-	22	3027	c.2802C>T	c.(2800-2802)taC>taT	p.Y934Y	FLII_ENST00000545457.2_Silent_p.Y879Y|FLII_ENST00000379450.4_Silent_p.Y848Y|FLII_ENST00000579294.1_Silent_p.Y923Y|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	934	Glu-rich.				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)					AGAGGAAGACGTAGCAGTCCT	0.617																																					p.Y934Y													.	FLII	79		0			c.C2802T												113	101	105					17																	18150241		2203	4300	6503	SO:0001819	synonymous_variant	2314	exon22			GAAGACGTAGCAG	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.2802C>T	17.37:g.18150241G>A			93	0	0		39	0.08	3	NM_002018	180	0.04	7	B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	CCDS11192.1																																																																																					0.617	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132032.2		NM_002018		A	18150241	G	A	18150241	2	1	108	1	0	0	0	0	0	0	0	1	5938	1140	40	1		1	FLII	17	18150241	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	7913782	18150241	63044969	75	8095											
SLFN12	55106	broad.mit.edu	37	chr17	33749877	33749877	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttcagccttgatcacTccccctccagaattgagcag	10	11	6	14	0	3	3	3	2	0	1	5	3	5	3	4	0	2	1	4	0	2	3			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr17:33749877T>C	ENST00000394562.1	-	4	694	c.171A>G	c.(169-171)ggA>ggG	p.G57G	SLFN12_ENST00000452764.3_Silent_p.G57G|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Silent_p.G57G			Q8IYM2	SLN12_HUMAN	schlafen family member 12	57							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTGATCACTCCCCCTCCAG	0.358																																					p.G57G													.	SLFN12	56		0			c.A171G												125	115	118					17																	33749877		2203	4300	6503	SO:0001819	synonymous_variant	55106	exon2			GATCACTCCCCCT	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.171A>G	17.37:g.33749877T>C			148	0.0135135135	2		214	0.02	5	NM_018042	1	0	0	A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	CCDS11295.1																																																																																					0.358	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256491.1		NM_018042		C	33749877	T	C	33749877	2	2	108	1	0	0	0	0	0	0	0	1	14757	1538	54	4		4	SLFN12	17	33749877	Silent	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10	15599636	33749877	47445333	76	8096											
FMNL1	752	ucsc.edu	37	chr17	43323271	43323271	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagcaggaggtggaacagtgGaaaaaagaagccgctgccca	15	3	15	8	1	0	1	0	0	0	1	0	5	0	4	2	4	4	2	2	4	5	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr17:43323271G>A	ENST00000331495.3	+	24	3357	c.3021G>A	c.(3019-3021)tgG>tgA	p.W1007*	MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|FMNL1_ENST00000587489.1_Nonsense_Mutation_p.W585*|MAP3K14-AS1_ENST00000590100.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|FMNL1_ENST00000328118.3_Nonsense_Mutation_p.W1007*|MAP3K14-AS1_ENST00000591263.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1007	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGAACAGTGGAAAAAAGAAG	0.632																																					p.W1007X	GBM(164;1247 1997 8702 11086 51972)												.	FMNL1	78		0			c.G3021A												21	23	23					17																	43323271		2202	4300	6502	SO:0001587	stop_gained	752	exon24			ACAGTGGAAAAAA	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.3021G>A	17.37:g.43323271G>A	ENSP00000329219:p.Trp1007*		84	0.0119047619	1		134	0.03	4	NM_005892	96	0.16	15	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Nonsense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	41	9.032697	0.99042	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	.	.	.	5.21	4.24	0.50183	.	0.238842	0.44285	D	0.000473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	11.918	0.52776	0.0853:0.0:0.9147:0.0	.	.	.	.	X	1007	.	ENSP00000327442:W1007X	W	+	3	0	FMNL1	40679054	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.918000	0.69996	2.431000	0.82371	0.462000	0.41574	TGG			0.632	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450198.1	rescued with RNA-seq	NM_005892		A	43323271	G	A	43323271	4	1	108	1	0	0	0	0	0	1	0	0	5964	1183	41	3	3115	3	FMNL1	17	43323271	Nonsense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	9573394	43323271	37871939	77	8097											
SAMD14	201191	broad.mit.edu	37	chr17	48195666	48195666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgctgtccagtctggcCgtctctggcacagccaagtc	8	9	10	14	1	2	0	0	0	2	0	5	0	3	0	3	2	3	2	3	2	2	0	rs145637965		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr17:48195666C>T	ENST00000330175.4	-	3	386	c.69G>A	c.(67-69)acG>acA	p.T23T	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Silent_p.T23T	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	23										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CCAGTCTGGCCGTCTCTGGCA	0.662																																					p.T23T													.	SAMD14	36		0			c.G69A												33	36	35					17																	48195666		2203	4300	6503	SO:0001819	synonymous_variant	201191	exon3			TCTGGCCGTCTCT		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.69G>A	17.37:g.48195666C>T			49	0	0		63	0.06	4	NM_001257359	6	0	0	A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	37	CCDS58562.1																																																																																					0.662	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366661.1		NM_174920		T	48195666	C	T	48195666	2	4	108	1	0	0	0	0	0	0	0	1	13842	639	23	1		1	SAMD14	17	48195666	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	4872395	48195666	32999544	78	8098											
SMURF2	64750	broad.mit.edu;ucsc.edu	37	chr17	62543750	62543750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagccctgcagaggcactCgagaggatcctgtcacaaac	12	6	11	12	1	1	3	1	1	0	2	3	5	2	4	2	2	3	2	2	2	2	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr17:62543750C>T	ENST00000262435.9	-	17	2226	c.2039G>A	c.(2038-2040)cGa>cAa	p.R680Q		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	680	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)			CAGAGGCACTCGAGAGGATCC	0.552																																					p.R680Q													.	SMURF2	63		0			c.G2039A												112	103	106					17																	62543750		2203	4300	6503	SO:0001583	missense	64750	exon17			GGCACTCGAGAGG	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.2039G>A	17.37:g.62543750C>T	ENSP00000262435:p.Arg680Gln		89	0.0112359551	1		97	0.04	4	NM_022739	66	0.11	7	Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	C	36	5.833487	0.97003	.	.	ENSG00000108854	ENST00000262435	T	0.63255	-0.03	5.89	5.89	0.94794	HECT (4);	0.046223	0.85682	D	0.000000	D	0.83751	0.5322	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85704	0.1315	10	0.87932	D	0	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	680	Q9HAU4	SMUF2_HUMAN	Q	680	ENSP00000262435:R680Q	ENSP00000262435:R680Q	R	-	2	0	SMURF2	59974212	1.000000	0.71417	0.937000	0.37676	0.917000	0.54804	7.729000	0.84864	2.793000	0.96121	0.561000	0.74099	CGA			0.552	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445227.1		NM_022739		T	62543750	C	T	62543750	3	4	108	1	0	0	0	0	1	0	0	0	14843	884	31	1	219	1	SMURF2	17	62543750	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	14348084	62543750	18651460	79	8099											
OSBPL1A	114876	mdanderson.org	37	chr18	21912990	21912990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccggtaagctgcacaatGcaagggtgtatttcctaact	10	10	11	10	1	0	0	0	0	0	0	1	0	1	0	2	3	4	5	2	3	5	4			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr18:21912990G>T	ENST00000319481.3	-	7	747	c.541C>A	c.(541-543)Cat>Aat	p.H181N		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	181	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GCTGCACAATGCAAGGGTGTA	0.393																																					p.H181N													.	.			0			c.C541A												125	111	116					18																	21912990		2203	4300	6503	SO:0001583	missense	114876	exon7			CACAATGCAAGGG	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.541C>A	18.37:g.21912990G>T	ENSP00000320291:p.His181Asn		126	0	0		124	0.04	5	NM_080597	3	0	0	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572327	0.86542	.	.	ENSG00000141447	ENST00000319481	D	0.87256	-2.23	4.84	4.84	0.62591	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	M	0.93939	3.475	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.96450	0.9333	10	0.72032	D	0.01	-23.4929	18.2723	0.90072	0.0:0.0:1.0:0.0	.	181	Q9BXW6	OSBL1_HUMAN	N	181	ENSP00000320291:H181N	ENSP00000320291:H181N	H	-	1	0	OSBPL1A	20166988	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.855000	0.92236	2.379000	0.81126	0.650000	0.86243	CAT			0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254902.1		NM_080597		T	21912990	G	T	21912990	3	4	108	1	0	0	0	0	1	0	0	0	11294	1319	46	2	2399	2	OSBPL1A	18	21912990	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		21912990	56164258	80	8100											
DIRAS1	148252	mdanderson.org	37	chr19	2717287	2717287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtcgatgttgaggctcAtgttccggcgcgtctccagc	4	11	13	13	5	2	1	1	1	1	0	5	2	3	1	3	2	2	3	3	2	0	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr19:2717287A>G	ENST00000323469.4	-	2	701	c.518T>C	c.(517-519)aTg>aCg	p.M173T	DIRAS1_ENST00000585334.1_Missense_Mutation_p.M173T	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	173					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		GTTGAGGCTCATGTTCCGGCG	0.612																																					p.M173T													.	.			0			c.T518C												126	117	120					19																	2717287		2203	4299	6502	SO:0001583	missense	148252	exon2			AGGCTCATGTTCC	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.518T>C	19.37:g.2717287A>G	ENSP00000325836:p.Met173Thr		33	0	0		23	0.13	3	NM_145173	10	0	0		Missense_Mutation	SNP	ENST00000323469.4	37	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.413914	0.25465	.	.	ENSG00000176490	ENST00000323469	T	0.68903	-0.36	3.69	3.69	0.42338	.	0.144872	0.64402	D	0.000009	T	0.42765	0.1217	N	0.08118	0	0.53005	D	0.999966	B	0.09022	0.002	B	0.23150	0.044	T	0.24297	-1.0164	10	0.14252	T	0.57	.	10.357	0.43969	1.0:0.0:0.0:0.0	.	173	O95057	DIRA1_HUMAN	T	173	ENSP00000325836:M173T	ENSP00000325836:M173T	M	-	2	0	DIRAS1	2668287	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	6.987000	0.76206	1.547000	0.49401	0.448000	0.29417	ATG			0.612	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451350.1				G	2717287	A	G	2717287	3	3	108	1	0	0	0	0	1	0	0	0	4535	217	8	4	82	4	DIRAS1	19	2717287	Missense_Mutation	SNP	A	TCGA-X3-A8G4-01A-11D-A435-10		2717287	56411696	81	8101											
SIRT6	51548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	4179130	4179130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcgcacatggagcccGtccacgttctggctgaccag	7	7	12	15	3	1	2	0	2	1	0	2	3	2	3	4	2	2	3	4	2	0	1	rs200245532		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr19:4179130G>A	ENST00000337491.2	-	3	412	c.348C>T	c.(346-348)gaC>gaT	p.D116D	SIRT6_ENST00000381935.3_Silent_p.D44D|SIRT6_ENST00000305232.6_Silent_p.D116D|SIRT6_ENST00000601488.1_Intron|SIRT6_ENST00000594279.1_Silent_p.D44D	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	116	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGAGCCCGTCCACGTTCT	0.652																																					p.D116D													SIRT6,NS,carcinoma,-2,1	SIRT6	-2	1	0			c.C348T												25	23	24					19																	4179130		2203	4300	6503	SO:0001819	synonymous_variant	51548	exon3			GAGCCCGTCCACG	AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6", "sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.348C>T	19.37:g.4179130G>A			49	0	0		34	0.24	8	NM_016539	53	0.09	5	B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Silent	SNP	ENST00000337491.2	37	CCDS12122.1																																																																																					0.652	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457931.2				A	4179130	G	A	4179130	2	1	108	1	0	0	0	0	0	0	0	1	14365	1136	40	1		1	SIRT6	19	4179130	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	1461843	4179130	54949853	82	8102											
TMED1	11018	mdanderson.org	37	chr19	10943839	10943839	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaggcccgcagtagcgtGagcatctggatgctgcgctc	7	8	14	12	4	1	1	0	1	1	0	3	3	1	2	1	2	4	5	1	2	2	1	rs142246182		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr19:10943839G>T	ENST00000214869.2	-	4	614	c.516C>A	c.(514-516)ctC>ctA	p.L172L	TMED1_ENST00000588289.1_Silent_p.L27L|TMED1_ENST00000591695.1_Nonsense_Mutation_p.S111*	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	172					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GCAGTAGCGTGAGCATCTGGA	0.647																																					p.L172L													.	.			0			c.C516A							G		1,4405	2.1+/-5.4	0,1,2202	51	47	49		516	0.5	0.6	19	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	TMED1	NM_006858.2		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		172/228	10943839	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11018	exon4			TAGCGTGAGCATC	U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.516C>A	19.37:g.10943839G>T			71	0	0		48	0.06	3	NM_006858	91	0	0		Silent	SNP	ENST00000214869.2	37	CCDS12249.1																																																																																			0		0.647	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452614.1		NM_006858		T	10943839	G	T	10943839	2	4	108	1	0	0	0	0	0	0	0	1	16025	1277	45	3		3	TMED1	19	10943839	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	6764709	10943839	48185144	83	8103											
DOCK6	57572	mdanderson.org	37	chr19	11323902	11323902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtacagcgaggcgctggCgtgcgtgcggatggtgctga	6	7	19	9	5	0	1	0	1	0	0	0	3	0	2	0	5	5	3	0	5	1	1	rs140032702		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr19:11323902C>T	ENST00000294618.7	-	35	4452	c.4441G>A	c.(4441-4443)Gcc>Acc	p.A1481T	DOCK6_ENST00000319867.7_Missense_Mutation_p.A820T|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1481					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						GAGGCGCTGGCGTGCGTGCGG	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18330	0		0	False		,,,				2504	0				p.A1481T													.	.			0			c.G4441A												45	53	51					19																	11323902		2192	4287	6479	SO:0001583	missense	57572	exon35			CGCTGGCGTGCGT		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.4441G>A	19.37:g.11323902C>T	ENSP00000294618:p.Ala1481Thr		47	0	0		39	0.08	3	NM_020812	57	0	0	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.5	4.428471	0.83667	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.01933	4.55;4.55	4.94	3.9	0.45041	.	0.112294	0.64402	N	0.000014	T	0.11922	0.0290	M	0.90483	3.12	0.80722	D	1	D;P	0.57571	0.98;0.534	P;B	0.57152	0.814;0.355	T	0.00992	-1.1488	10	0.87932	D	0	-11.7589	12.2099	0.54373	0.0:0.9145:0.0:0.0855	.	820;1481	C9IZV6;Q96HP0	.;DOCK6_HUMAN	T	1481;820	ENSP00000294618:A1481T;ENSP00000321556:A820T	ENSP00000294618:A1481T	A	-	1	0	DOCK6	11184902	1.000000	0.71417	0.984000	0.44739	0.559000	0.35586	5.937000	0.70162	1.083000	0.41159	-0.145000	0.13849	GCC	0		0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453155.1		NM_020812		T	11323902	C	T	11323902	3	4	108	1	0	0	0	0	1	0	0	0	4696	768	27	1	1758	1	DOCK6	19	11323902	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	380063	11323902	47805081	84	8104											
DOCK6	57572	mdanderson.org	37	chr19	11361651	11361651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggggccgcccgctctaGcagagagggcagcaatgagt	8	7	15	11	2	2	2	0	1	2	1	2	3	2	2	2	3	2	4	2	3	2	2			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr19:11361651G>T	ENST00000294618.7	-	6	630	c.619C>A	c.(619-621)Cta>Ata	p.L207I		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	207					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						GCCCGCTCTAGCAGAGAGGGC	0.662																																					p.L207I													.	.			0			c.C619A												28	34	32					19																	11361651		1952	4121	6073	SO:0001583	missense	57572	exon6			GCTCTAGCAGAGA		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.619C>A	19.37:g.11361651G>T	ENSP00000294618:p.Leu207Ile		75	0	0		37	0.08	3	NM_020812	17	0	0	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584162	0.46110	.	.	ENSG00000130158	ENST00000294618	T	0.22945	1.93	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000004	T	0.48768	0.1518	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49072	-0.8977	10	0.54805	T	0.06	-16.2373	11.1378	0.48386	0.0913:0.0:0.9087:0.0	.	207	Q96HP0	DOCK6_HUMAN	I	207	ENSP00000294618:L207I	ENSP00000294618:L207I	L	-	1	2	DOCK6	11222651	1.000000	0.71417	0.997000	0.53966	0.039000	0.13416	4.202000	0.58446	2.250000	0.74265	0.462000	0.41574	CTA			0.662	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453155.1		NM_020812		T	11361651	G	T	11361651	3	4	108	1	0	0	0	0	1	0	0	0	4696	962	34	2	5696	2	DOCK6	19	11361651	Missense_Mutation	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	37749	11361651	47767332	85	8105											
SLC27A1	376497	mdanderson.org	37	chr19	17597498	17597498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggcgctggtggatgcCgggaccggcgagtgctggac	4	6	19	12	5	0	0	0	0	0	0	0	4	0	3	3	6	2	2	3	6	0	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr19:17597498C>T	ENST00000252595.7	+	2	391	c.294C>T	c.(292-294)gcC>gcT	p.A98A	SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Silent_p.A98A|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	98					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGTGGATGCCGGGACCGGCG	0.706																																					p.A98A													.	.			0			c.C294T												18	17	18					19																	17597498		2180	4259	6439	SO:0001819	synonymous_variant	376497	exon2			GGATGCCGGGACC	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.294C>T	19.37:g.17597498C>T			30	0	0		23	0.13	3	NM_198580	7	0	0	A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	CCDS32953.1																																																																																					0.706	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464145.1		NM_198580		T	17597498	C	T	17597498	2	4	108	1	0	0	0	0	0	0	0	1	14548	639	23	1		1	SLC27A1	19	17597498	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	6235847	17597498	41531485	86	8106											
KIAA0355	9710	broad.mit.edu;bcgsc.ca	37	chr19	34818343	34818346	+	Frame_Shift_Del	DEL	AGAA	AGAA	-																															caggcgacatctagactaagAgaaagaggctgtgatggttg																										TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	AGAA	AGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr19:34818343_34818346delAGAA	ENST00000299505.6	+	4	1596_1599	c.723_726delAGAA	c.(721-726)agagaafs	p.RE241fs		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	241										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTAGACTAAGAGAAAGAGGCTGTG	0.397																																					p.241_242del													.	KIAA0355	105		0			c.723_726del																																									SO:0001589	frameshift_variant	9710	exon4			ACTAAGAGAAAGA		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.723_726delAGAA	19.37:g.34818343_34818346delAGAA	ENSP00000299505:p.Arg241fs		80	0	0		47	0.19	9	NM_014686	6	0	0	Q2M3W4	Frame_Shift_Del	DEL	ENST00000299505.6	37	CCDS12436.1																																																																																					0.397	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451678.4		NM_014686		-	34818346	AGAA	-	34818343	7	5	108	1	0	1	0	1	0	0	0	0	8185	301	11	0	733	0	KIAA0355	19	34818343	Frame_Shift_Del	DEL	AGAA	TCGA-X3-A8G4-01A-11D-A435-10	17220845	34818343	24310640	87	8107											
BCL3	602	mdanderson.org	37	chr19	45261637	45261637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctcaagaactgccacaaCgacacgccgctcatggtggc	11	5	10	15	3	2	1	2	0	0	1	2	2	2	1	3	2	4	1	3	2	3	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr19:45261637C>T	ENST00000164227.5	+	7	1270	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	342					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|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)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				ACTGCCACAACGACACGCCGC	0.716			T	IGH@	CLL																																p.N342N				Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	.	.			0			c.C1026T												6	6	6					19																	45261637		2058	3991	6049	SO:0001819	synonymous_variant	602	exon7			CCACAACGACACG	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1026C>T	19.37:g.45261637C>T			16	0	0		21	0.14	3	NM_005178	60	0.05	3		Silent	SNP	ENST00000164227.5	37	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586642	0.28268	.	.	ENSG00000069399	ENST00000444487	.	.	.	4.88	-1.47	0.08772	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.3985	9.2408	0.37495	0.0:0.4821:0.0:0.5179	.	.	.	.	X	226	.	.	R	+	1	2	BCL3	49953477	0.098000	0.21812	0.997000	0.53966	0.977000	0.68977	-0.846000	0.04336	-0.127000	0.11661	-0.424000	0.05967	CGA			0.716	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322976.1		NM_005178		T	45261637	C	T	45261637	2	4	108	1	0	0	0	0	0	0	0	1	1375	535	19	1		1	BCL3	19	45261637	Silent	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	10443294	45261637	13867346	88	8108											
PRKD2	25865	broad.mit.edu;mdanderson.org	37	chr19	47214195	47214195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccctggcgcactaggccGaagagcatctccccgcagtg	8	5	13	15	3	1	1	0	0	1	1	2	2	1	1	4	3	1	3	4	3	2	1	rs143631618		TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr19:47214195G>A	ENST00000291281.4	-	3	705	c.480C>T	c.(478-480)ttC>ttT	p.F160F	PRKD2_ENST00000600194.1_Silent_p.F3F|PRKD2_ENST00000601806.1_Silent_p.F3F|MIR320E_ENST00000390179.3_RNA|PRKD2_ENST00000433867.1_Silent_p.F160F|PRKD2_ENST00000595515.1_Silent_p.F160F			Q9BZL6	KPCD2_HUMAN	protein kinase D2	160					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)		GCACTAGGCCGAAGAGCATCT	0.682																																					p.F160F													.	PRKD2	94		0			c.C480T							G	,,,	0,4378		0,0,2189	26	22	23		480,480,9,480	-0.4	1	19	dbSNP_134	23	2,8568		0,2,4283	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRKD2	NM_001079880.1,NM_001079881.1,NM_001079882.1,NM_016457.4	,,,	0,2,6472	AA,AG,GG		0.0233,0.0,0.0154	,,,	160/879,160/879,3/722,160/879	47214195	2,12946	2189	4285	6474	SO:0001819	synonymous_variant	25865	exon3			TAGGCCGAAGAGC	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.480C>T	19.37:g.47214195G>A			48	0	0		39	0.08	3	NM_016457	36	0.17	6	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	CCDS12689.1																																																																																					0.682	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466591.1		NM_016457		A	47214195	G	A	47214195	2	1	108	1	0	0	0	0	0	0	0	1	12539	1049	37	1		1	PRKD2	19	47214195	Silent	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10	1952558	47214195	11914788	89	8109											
BLCAP	10904	ucsc.edu	37	chr20	36147563	36147563	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacgggcagcagccacTggaggcaatacatgatctct	11	6	14	10	1	1	1	0	1	1	0	2	4	1	4	1	5	3	3	1	5	2	1			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr20:36147563T>C	ENST00000373537.2	-	2	328	c.14A>G	c.(13-15)cAg>cGg	p.Q5R	BLCAP_ENST00000414542.2_Missense_Mutation_p.Q5R|NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000397131.1_Missense_Mutation_p.Q5R|NNAT_ENST00000346199.2_5'Flank|BLCAP_ENST00000397134.1_Missense_Mutation_p.Q5R|BLCAP_ENST00000397137.1_Missense_Mutation_p.Q5R|BLCAP_ENST00000397135.1_Missense_Mutation_p.Q5R	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	5			Q -> R (in RNA edited version).		apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CAGCAGCCACTGGAGGCAATA	0.652																																					p.Q5R													.	BLCAP	7		0			c.A14G												12	15	14					20																	36147563		2199	4296	6495	SO:0001583	missense	10904	exon2			AGCCACTGGAGGC	AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.14A>G	20.37:g.36147563T>C	ENSP00000362637:p.Gln5Arg		126	0	0		118	0.01	1	NM_006698	65	0.12	8	A2A2K7|O60629|Q9D3B5	Missense_Mutation	SNP	ENST00000373537.2	37	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132039	0.77662	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507;ENST00000445723;ENST00000414080;ENST00000456058	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.80141	-0.1506	8	0.56958	D	0.05	-4.7884	12.8156	0.57663	0.0:0.0:0.0:1.0	.	5	P62952	BLCAP_HUMAN	R	5	.	ENSP00000362637:Q5R	Q	-	2	0	BLCAP	35580977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.843000	0.86859	2.122000	0.65172	0.477000	0.44152	CAG			0.652	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079113.2		NM_006698		C	36147563	T	C	36147563	3	2	108	1	0	0	0	0	1	0	0	0	1442	1580	55	4	253	4	BLCAP	20	36147563	Missense_Mutation	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10		36147563	26877957	90	8110											
TIAM1	7074	broad.mit.edu	37	chr21	32508274	32508274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctgccaactctggttccTttttccacttgcccagcgag	6	13	8	14	1	1	0	0	0	1	0	3	1	3	0	4	1	5	2	4	1	1	4			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr21:32508274T>C	ENST00000286827.3	-	24	4331	c.3860A>G	c.(3859-3861)aAg>aGg	p.K1287R	TIAM1_ENST00000541036.1_Missense_Mutation_p.K1227R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1287	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCTGGTTCCTTTTTCCACTT	0.483																																					p.K1287R													.	TIAM1	522		0			c.A3860G												108	103	105					21																	32508274		2203	4300	6503	SO:0001583	missense	7074	exon24			GGTTCCTTTTTCC		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3860A>G	21.37:g.32508274T>C	ENSP00000286827:p.Lys1287Arg		204	0	0		192	0.03	5	NM_003253	37	0	0	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.746979	0.49257	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.50001	0.76;0.78	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	L	0.47016	1.485	0.80722	D	1	B;B;B	0.21905	0.062;0.037;0.037	B;B;B	0.16722	0.016;0.007;0.007	T	0.30909	-0.9962	10	0.45353	T	0.12	.	15.6133	0.76744	0.0:0.0:0.0:1.0	.	1227;1227;1287	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	R	1287;1227	ENSP00000286827:K1287R;ENSP00000441570:K1227R	ENSP00000286827:K1287R	K	-	2	0	TIAM1	31430145	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	6.214000	0.72200	2.076000	0.62316	0.533000	0.62120	AAG			0.483	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000192552.1		NM_003253		C	32508274	T	C	32508274	3	2	108	1	0	0	0	0	1	0	0	0	15913	1609	56	4	939	4	TIAM1	21	32508274	Missense_Mutation	SNP	T	TCGA-X3-A8G4-01A-11D-A435-10		32508274	15621621	91	8111											
GAB4	128954	bcgsc.ca;mdanderson.org	37	chr22	17473065	17473065	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaaccagcgtttcctccagGcctaaggaaggagtaagaag	14	7	11	9	1	0	1	0	0	0	1	2	3	2	3	4	3	2	2	4	3	6	4			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chr22:17473065G>T	ENST00000400588.1	-	2	283	c.176C>A	c.(175-177)gCc>gAc	p.A59D	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	59	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									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)				TTTCCTCCAGGCCTAAGGAAG	0.498																																					p.A59D													.	GAB4	95		0			c.C176A												95	100	98					22																	17473065		2167	4291	6458	SO:0001630	splice_region_variant	128954	exon2			CTCCAGGCCTAAG	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.175-1C>A	22.37:g.17473065G>T			114	0	0		97	0.05	5	NM_001037814	0		0		Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475712	0.63737	.	.	ENSG00000215568	ENST00000400588	T	0.75367	-0.93	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.352807	0.28453	N	0.015300	T	0.80793	0.4691	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80555	-0.1330	10	0.59425	D	0.04	.	9.5993	0.39593	0.0:0.0:1.0:0.0	.	59	Q2WGN9	GAB4_HUMAN	D	59	ENSP00000383431:A59D	ENSP00000383431:A59D	A	-	2	0	GAB4	15853065	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	8.691000	0.91279	1.301000	0.44836	0.591000	0.81541	GCC			0.498	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315426.1		XM_372882	Missense_Mutation	T	17473065	G	T	17473065	5	4	108	1	0	0	0	0	0	0	1	0	6164	1217	42	2	1584	2	GAB4	22	17473065	Splice_Site	SNP	G	TCGA-X3-A8G4-01A-11D-A435-10		17473065	33831501	92	8112											
ASB9	140462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	15276999	15277000	+	Missense_Mutation	DNP	GG	GG	AT																															aaaagctacctggctgatgaGgttcctcagagacagctgat																										TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	GG	GG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chrX:15276999_15277000GG>AT	ENST00000380488.4	-	2	435_436	c.162_163CC>AT	c.(160-165)aaCCtc>aaATtc	p.54_55NL>KF	ASB9_ENST00000380483.3_Missense_Mutation_p.54_55NL>KF|ASB9_ENST00000380485.3_Missense_Mutation_p.54_55NL>KF|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.54_55NL>KF	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	54					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TGGCTGATGAGGTTCCTCAGAG	0.381																																					p.NL54KF													.	.			0			c.C162A																																									SO:0001583	missense	140462	exon2			TGATGAGGTTCCT	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.162_163delinsAT	X.37:g.15276999_15277000delinsAT	ENSP00000369855:p.N54_L55delinsKF		155	0	0		190	0.13	25	NM_001168530	6	0	0	A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	DNP	ENST00000380488.4	37	CCDS35208.1																																																																																					0.381	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055844.1				AT	15277000	GG	AT	15276999	3	1	108	1	0	0	0	0	1	0	0	0	1030	1000	35	3	774	3	ASB9	23	15276999	Missense_Mutation	DNP	GG	TCGA-X3-A8G4-01A-11D-A435-10		15276999	139993561	93	8113											
IL9R	3581	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	155239804	155239804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagagggcagcaggagcagCagcagcagcagcagcagcaa	14	1	15	11	0	1	1	1	0	0	1	1	2	1	2	0	2	9	10	0	2	1	0			TCGA-X3-A8G4-01A-11D-A435-10	TCGA-X3-A8G4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a9558e63-9b5c-4cd2-95a3-3a803277359f	e1afb0d5-ca80-4fdb-86c8-27443f74b3a6	g.chrX:155239804C>G	ENST00000244174.5	+	9	1475	c.1296C>G	c.(1294-1296)agC>agG	p.S432R	IL9R_ENST00000424344.3_Missense_Mutation_p.S411R|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	432	Poly-Ser.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					gcaggagcagcagcagcagca	0.627																																					p.S432R													.	.			0			c.C1296G												17	27	24					X																	155239804		2201	4295	6496	SO:0001583	missense	3581	exon9			GAGCAGCAGCAGC	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1296C>G	X.37:g.155239804C>G	ENSP00000244174:p.Ser432Arg		125	0	0		112	0.05	6	NM_002186	1	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	9.402	1.078258	0.20227	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10860	2.83;2.83	0.195	0.195	0.15151	.	3.852910	0.00870	N	0.002015	T	0.14356	0.0347	.	.	.	0.09310	N	1	P	0.42518	0.782	P	0.46110	0.504	T	0.20806	-1.0264	8	0.48119	T	0.1	-15.0951	.	.	.	.	432	Q01113	IL9R_HUMAN	R	432;411	ENSP00000244174:S432R;ENSP00000388918:S411R	ENSP00000244174:S432R	S	+	3	2	IL9R	154892998	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-0.363000	0.07593	0.283000	0.22279	0.287000	0.19450	AGC			0.627	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058981.1		NM_002186		G	155239804	C	G	155239804	3	3	108	1	0	0	0	0	1	0	0	0	7723	709	25	5	1330	5	IL9R	23	155239804	Missense_Mutation	SNP	C	TCGA-X3-A8G4-01A-11D-A435-10	139962805	155239804	30756	94	8114											
ACOT7	11332	mdanderson.org	37	chr1	6324673	6324673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctagggctgaggctccGcgtggccctgtcgcttcgcc	3	9	15	14	4	1	1	0	1	1	0	4	2	2	1	3	3	0	3	3	3	1	2	rs139667005		TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr1:6324673G>T	ENST00000377855.2	-	9	1273	c.1127C>A	c.(1126-1128)gCg>gAg	p.A376E	ACOT7_ENST00000377842.3_Missense_Mutation_p.A325E|ACOT7_ENST00000361521.4_Missense_Mutation_p.A366E|ACOT7_ENST00000545482.1_Missense_Mutation_p.A261E|ACOT7_ENST00000377845.3_Missense_Mutation_p.A346E|ACOT7_ENST00000608083.1_Missense_Mutation_p.A334E	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	376					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)		CTGAGGCTCCGCGTGGCCCTG	0.622																																					p.A376E	GBM(74;673 1226 4974 11850 13190)												.	ACOT7	71		0			c.C1127A												159	113	128					1																	6324673		2200	4299	6499	SO:0001583	missense	11332	exon9			GGCTCCGCGTGGC	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.1127C>A	1.37:g.6324673G>T	ENSP00000367086:p.Ala376Glu		46	0	0		53	0.06	3	NM_181864	1150	0	0	A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	CCDS65.1	.	.	.	.	.	.	.	.	.	.	G	3.672	-0.067279	0.07273	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.32988	1.44;1.44;1.44;1.43;1.49	5.61	-3.41	0.04839	.	1.727410	0.02903	N	0.135623	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.006;0.005;0.0;0.004	B;B;B;B	0.14023	0.007;0.008;0.001;0.01	T	0.27706	-1.0066	10	0.02654	T	1	.	6.2885	0.21047	0.435:0.0:0.4434:0.1216	.	366;376;346;325	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	E	376;346;325;366;261	ENSP00000367086:A376E;ENSP00000367076:A346E;ENSP00000367073:A325E;ENSP00000354615:A366E;ENSP00000439218:A261E	ENSP00000354615:A366E	A	-	2	0	ACOT7	6247260	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.713000	0.05007	-0.598000	0.05806	-0.244000	0.11960	GCG			0.622	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000003773.1		NM_007274		T	6324673	G	T	6324673	3	4	109	1	0	0	0	0	1	0	0	0	155	1087	38	1	19	1	ACOT7	1	6324673	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		6324673	242925948	1	8115											
EIF2C3	192669	bcgsc.ca;mdanderson.org	37	chr1	36469953	36469953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttagtttctgccactGccttctacaaagcacaacct	9	14	4	14	0	4	0	0	0	4	0	4	0	4	0	3	0	5	2	3	0	4	5			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr1:36469953G>A	ENST00000373191.4	+	6	1019	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	224					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)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TTCTGCCACTGCCTTCTACAA	0.358																																					p.A224T													.	.			0			c.G670A												124	119	121					1																	36469953		2203	4300	6503	SO:0001583	missense	192669	exon6			GCCACTGCCTTCT	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.670G>A	1.37:g.36469953G>A	ENSP00000362287:p.Ala224Thr		78	0	0		94	0.05	5	NM_024852	6	0	0	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105206	0.77096	.	.	ENSG00000126070	ENST00000373191	T	0.12361	2.69	5.35	5.35	0.76521	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.32793	0.0841	M	0.64630	1.985	0.80722	D	1	B	0.29612	0.251	P	0.47864	0.559	T	0.08680	-1.0710	10	0.56958	D	0.05	4.5371	19.0588	0.93078	0.0:0.0:1.0:0.0	.	224	Q9H9G7	AGO3_HUMAN	T	224	ENSP00000362287:A224T	ENSP00000362287:A224T	A	+	1	0	EIF2C3	36242540	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.513000	0.84729	0.460000	0.39030	GCC			0.358	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019831.4		NM_024852		A	36469953	G	A	36469953	3	1	109	1	0	0	0	0	1	0	0	0	5012	1319	46	2	692	2	EIF2C3	1	36469953	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	30145280	36469953	212780668	2	8116											
MMACHC	25974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	45973168	45973168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagctgccacctccgaatGctgactgacccagtggacca	10	6	10	15	1	0	3	0	2	0	1	1	5	1	4	5	1	3	2	5	1	1	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr1:45973168G>A	ENST00000401061.4	+	2	502	c.222G>A	c.(220-222)atG>atA	p.M74I		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	74					cobalamin biosynthetic process (GO:0009236)|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)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTCCGAATGCTGACTGACC	0.607																																					p.M74I													.	.			0			c.G222A												65	68	67					1																	45973168		2107	4236	6343	SO:0001583	missense	25974	exon2			CCGAATGCTGACT		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.222G>A	1.37:g.45973168G>A	ENSP00000383840:p.Met74Ile		115	0	0		116	0.17	20	NM_015506	32	0.19	6	Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	G	4.812	0.151047	0.09185	.	.	ENSG00000132763	ENST00000401061	D	0.97303	-4.33	5.36	0.103	0.14526	.	1.405820	0.04110	N	0.314408	D	0.87386	0.6164	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.83015	-0.0170	10	0.19147	T	0.46	0.2848	3.3266	0.07068	0.3486:0.0:0.244:0.4075	.	74	Q9Y4U1	MMAC_HUMAN	I	74	ENSP00000383840:M74I	ENSP00000383840:M74I	M	+	3	0	MMACHC	45745755	0.000000	0.05858	0.675000	0.29917	0.185000	0.23345	-0.629000	0.05508	0.338000	0.23692	0.563000	0.77884	ATG			0.607	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000020864.2		NM_015506		A	45973168	G	A	45973168	3	1	109	1	0	0	0	0	1	0	0	0	9657	1319	46	2	228	2	MMACHC	1	45973168	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	9503215	45973168	203277453	3	8117											
CTH	1491	broad.mit.edu	37	chr1	70877110	70877110	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggttcagcatgcaggaaaaAgacgcctcctcacaaggttt	12	8	10	11	2	2	1	2	0	0	1	3	2	3	2	2	3	2	4	2	3	3	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr1:70877110A>G	ENST00000370938.3	+	1	156	c.12A>G	c.(10-12)aaA>aaG	p.K4K	CTH_ENST00000464926.1_3'UTR|CTH_ENST00000346806.2_Silent_p.K4K|CTH_ENST00000411986.2_Silent_p.K4K	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGCAGGAAAAAGACGCCTCCT	0.547																																					p.K4K													.	CTH	48		0			c.A12G												115	127	123					1																	70877110		2203	4300	6503	SO:0001819	synonymous_variant	1491	exon1			GGAAAAAGACGCC	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.12A>G	1.37:g.70877110A>G			202	0	0		207	0.02	4	NM_153742	244	0	0	O95791|Q9NX42	Silent	SNP	ENST00000370938.3	37	CCDS650.1																																																																																					0.547	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025918.1		NM_001902		G	70877110	A	G	70877110	2	3	109	1	0	0	0	0	0	0	0	1	4011	69	3	4		4	CTH	1	70877110	Silent	SNP	A	TCGA-XE-A8H1-01A-11D-A435-10	24903942	70877110	178373511	4	8118											
KCNA2	3737	bcgsc.ca;mdanderson.org	37	chr1	111147358	111147358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcctgtgggtgcccaGggagggcagcagcctcgtct	5	8	17	11	1	1	0	0	0	1	0	3	1	2	1	3	4	3	2	3	4	0	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr1:111147358G>T	ENST00000485317.1	-	3	720	c.47C>A	c.(46-48)cCt>cAt	p.P16H	KCNA2_ENST00000369770.3_Missense_Mutation_p.P16H|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.P16H|KCNA2_ENST00000440270.1_Missense_Mutation_p.P16H			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	16					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TGGGTGCCCAGGGAGGGCAGC	0.597																																					p.P16H	Pancreas(18;568 735 10587 23710 36357)												.	KCNA2	61		0			c.C47A												94	99	97					1																	111147358		2203	4300	6503	SO:0001583	missense	3737	exon3			TGCCCAGGGAGGG	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.47C>A	1.37:g.111147358G>T	ENSP00000433109:p.Pro16His		144	0	0		123	0.04	5	NM_001204269	1	0	0	Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	CCDS827.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191302	0.58017	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96587	-1.39;-4.06;-4.06;-4.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95996	0.8696	L	0.54323	1.7	0.80722	D	1	P;P	0.44478	0.835;0.836	P;P	0.49561	0.615;0.595	D	0.95869	0.8889	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	16;16	Q86XG6;P16389	.;KCNA2_HUMAN	H	16	ENSP00000358785:P16H;ENSP00000433109:P16H;ENSP00000415257:P16H;ENSP00000314520:P16H	ENSP00000314520:P16H	P	-	2	0	KCNA2	110948881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.803000	0.85983	2.793000	0.96121	0.655000	0.94253	CCT			0.597	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128001.2		NM_004974		T	111147358	G	T	111147358	3	4	109	1	0	0	0	0	1	0	0	0	8018	1000	35	3	1456	3	KCNA2	1	111147358	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	40270248	111147358	138103263	5	8119											
ITGA10	8515	mdanderson.org	37	chr1	145532485	145532485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactacctccggcggcagcGagatcccagctctttcctga	7	9	9	16	3	2	2	1	1	1	1	5	3	5	2	4	2	3	2	4	2	1	2	rs151338211		TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr1:145532485G>T	ENST00000369304.3	+	9	1113	c.938G>T	c.(937-939)cGa>cTa	p.R313L	ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Missense_Mutation_p.R170L|ITGA10_ENST00000538811.1_Missense_Mutation_p.R182L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	313	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)			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)					CGGCGGCAGCGAGATCCCAGC	0.473																																					p.R313L													ITGA10,NS,carcinoma,+1,1	ITGA10	131	1	0			c.G938T												125	120	122					1																	145532485		2203	4300	6503	SO:0001583	missense	8515	exon9			GGCAGCGAGATCC	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.938G>T	1.37:g.145532485G>T	ENSP00000358310:p.Arg313Leu		56	0	0		57	0.05	3	NM_003637	0		0	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	5.000	0.185694	0.09495	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.51574	0.7;0.7;0.7	5.12	4.2	0.49525	von Willebrand factor, type A (3);	0.255440	0.33110	N	0.005270	T	0.10294	0.0252	N	0.01168	-0.975	0.37128	D	0.901132	B;B;D;P	0.54397	0.434;0.244;0.966;0.49	B;B;P;B	0.53185	0.191;0.191;0.72;0.29	T	0.34601	-0.9822	10	0.02654	T	1	.	6.0588	0.19826	0.0946:0.0:0.7163:0.1891	.	279;182;170;313	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	L	313;279;170;182	ENSP00000358310:R313L;ENSP00000439894:R170L;ENSP00000440011:R182L	ENSP00000358310:R313L	R	+	2	0	ITGA10	144243842	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.866000	0.48420	2.573000	0.86826	0.561000	0.74099	CGA			0.473	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000038537.2		NM_003637		T	145532485	G	T	145532485	3	4	109	1	0	0	0	0	1	0	0	0	7888	1058	37	1	972	1	ITGA10	1	145532485	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	34385127	145532485	103718136	6	8120											
KCNN3	3782	mdanderson.org	37	chr1	154698449	154698449	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcttctccgctttggtGagttccagctttcgggccac	4	13	11	13	3	1	1	0	1	1	0	4	1	2	1	3	2	2	4	3	2	0	4			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr1:154698449G>T	ENST00000271915.4	-	5	1959	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	KCNN3_ENST00000361147.4_Silent_p.L243L|KCNN3_ENST00000358505.2_Silent_p.L235L	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	553					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)	CCGCTTTGGTGAGTTCCAGCT	0.552																																					p.L563L													.	KCNN3	141		0			c.C1689A												108	90	96					1																	154698449		2203	4300	6503	SO:0001819	synonymous_variant	3782	exon6			TTTGGTGAGTTCC	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.1644C>A	1.37:g.154698449G>T			50	0	0		43	0.07	3	NM_001204087	4	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																					0.552	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090688.3		NM_002249		T	154698449	G	T	154698449	2	4	109	1	0	0	0	0	0	0	0	1	8095	1277	45	3		3	KCNN3	1	154698449	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	9165964	154698449	94552172	7	8121											
ILDR2	387597	mdanderson.org	37	chr1	166890443	166890443	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccgctgtgcgcccgcGactccgagcgctcgaagcgg	7	4	15	15	8	0	1	0	0	0	1	2	4	1	1	3	1	4	2	3	1	2	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr1:166890443G>T	ENST00000271417.3	-	9	1440	c.1385C>A	c.(1384-1386)tCg>tAg	p.S462*	ILDR2_ENST00000525740.1_Nonsense_Mutation_p.S335*|ILDR2_ENST00000528703.1_Nonsense_Mutation_p.S403*|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000526687.1_Nonsense_Mutation_p.S354*|ILDR2_ENST00000529071.1_Nonsense_Mutation_p.S443*|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	462					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						GTGCGCCCGCGACTCCGAGCG	0.726																																					p.S462X													.	ILDR2	79		0			c.C1385A												4	6	6					1																	166890443		1696	3541	5237	SO:0001587	stop_gained	387597	exon9			GCCCGCGACTCCG	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.1385C>A	1.37:g.166890443G>T	ENSP00000271417:p.Ser462*		15	0	0		16	0.13	2	NM_199351	4	0	0		Nonsense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297027	0.60086	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	.	.	.	4.28	3.35	0.38373	.	1.122620	0.06874	N	0.801294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0409	0.64674	0.0:0.1526:0.8474:0.0	.	.	.	.	X	462;335;443;354;403	.	ENSP00000271417:S462X	S	-	2	0	ILDR2	165157067	0.641000	0.27251	0.003000	0.11579	0.004000	0.04260	4.623000	0.61247	0.768000	0.33290	0.558000	0.71614	TCG			0.726	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082880.2		NM_199351		T	166890443	G	T	166890443	4	4	109	1	0	0	0	0	0	1	0	0	7725	1059	37	1	542	1	ILDR2	1	166890443	Nonsense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	12191994	166890443	82360178	8	8122											
OR2T3	343173	broad.mit.edu	37	chr1	248637495	248637495	+	Frame_Shift_Del	DEL	T	T	-																															aggacatgatggtgtctgccTtttacaccatcttcactcct																										TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr1:248637495delT	ENST00000359594.2	+	1	869	c.844delT	c.(844-846)tttfs	p.F282fs		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	282						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(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GGTGTCTGCCTTTTACACCAT	0.507																																					p.F282fs													.	OR2T3	79		0			c.844delT												229	222	225					1																	248637495		2203	4297	6500	SO:0001589	frameshift_variant	343173	exon1			TCTGCCTTTTACA		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.844delT	1.37:g.248637495delT	ENSP00000352604:p.Phe282fs		813	0	0		869	0.01	7	NM_001005495	0		0	B2RNJ1	Frame_Shift_Del	DEL	ENST00000359594.2	37	CCDS31117.1																																																																																					0.507	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097348.1		NM_001005495		-	248637495	T	-	248637495	7	5	109	1	0	1	0	1	0	0	0	0	11040	1609	56	0	846	0	OR2T3	1	248637495	Frame_Shift_Del	DEL	T	TCGA-XE-A8H1-01A-11D-A435-10	81747052	248637495	613126	9	8123											
PUM2	23369	mdanderson.org	37	chr2	20507802	20507802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctgcagttaactgttGaactgttagtgcattagtcc	9	15	10	7	0	0	2	0	2	0	0	1	2	1	2	1	0	5	6	1	0	4	5			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr2:20507802G>T	ENST00000361078.2	-	6	842	c.820C>A	c.(820-822)Caa>Aaa	p.Q274K	PUM2_ENST00000420234.1_5'Flank|PUM2_ENST00000319801.5_Missense_Mutation_p.Q274K|PUM2_ENST00000403432.1_Missense_Mutation_p.Q274K|PUM2_ENST00000338086.5_Missense_Mutation_p.Q274K|PUM2_ENST00000536417.1_Missense_Mutation_p.Q218K			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	274					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)					GTTAACTGTTGAACTGTTAGT	0.358																																					p.Q274K													PUM2,NS,carcinoma,+1,1	PUM2	91	1	0			c.C820A												142	129	133					2																	20507802		2203	4300	6503	SO:0001583	missense	23369	exon6			ACTGTTGAACTGT	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.820C>A	2.37:g.20507802G>T	ENSP00000354370:p.Gln274Lys		50	0	0		44	0.07	3	NM_015317	84	0	0	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.394941	0.96009	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.30981	1.71;1.9;1.87;1.51;1.71;1.69	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	L	0.61218	1.895	0.80722	D	1	D;B;D	0.57571	0.98;0.155;0.961	D;B;P	0.71656	0.974;0.043;0.839	T	0.54642	-0.8263	10	0.72032	D	0.01	-3.986	19.9944	0.97379	0.0:0.0:1.0:0.0	.	218;274;274	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	K	274;274;274;165;274;218;274	ENSP00000338173:Q274K;ENSP00000354370:Q274K;ENSP00000326746:Q274K;ENSP00000409905:Q165K;ENSP00000385992:Q274K;ENSP00000440093:Q218K	ENSP00000326746:Q274K	Q	-	1	0	PUM2	20371283	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.429000	0.97481	2.720000	0.93068	0.557000	0.71058	CAA			0.358	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015317		T	20507802	G	T	20507802	3	4	109	1	0	0	0	0	1	0	0	0	12849	1299	45	3	2434	3	PUM2	2	20507802	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		20507802	222691571	10	8124											
NFE2L2	4780	broad.mit.edu	37	chr2	178096691	178096691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtttggcttctggacttgGaaccatggtagtctcaacca	9	12	10	10	0	2	0	1	0	2	0	3	2	2	2	2	4	2	3	2	4	3	4			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr2:178096691G>T	ENST00000397062.3	-	5	1194	c.640C>A	c.(640-642)Cca>Aca	p.P214T	NFE2L2_ENST00000446151.2_Missense_Mutation_p.P191T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.P198T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.P198T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	214					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTGGACTTGGAACCATGGTA	0.343			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																											p.P214T				Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	.	NFE2L2	225		0			c.C640A												134	127	129					2																	178096691		1855	4116	5971	SO:0001583	missense	4780	exon5			GACTTGGAACCAT		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.640C>A	2.37:g.178096691G>T	ENSP00000380252:p.Pro214Thr		255	0.0039215686	1		250	0.02	6	NM_006164	170	0	0	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	6.056	0.378698	0.11466	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929	T;T;T;T;T	0.32023	2.29;2.29;2.29;1.47;1.47	6.17	1.09	0.20402	.	0.264994	0.44285	D	0.000469	T	0.20210	0.0486	L	0.56396	1.775	0.28601	N	0.909141	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.25363	-1.0134	10	0.09084	T	0.74	.	2.9435	0.05839	0.1335:0.2363:0.4451:0.1851	.	191;214	E9PGJ7;Q16236	.;NF2L2_HUMAN	T	198;214;191;198;198	ENSP00000380253:P198T;ENSP00000380252:P214T;ENSP00000411575:P191T;ENSP00000400073:P198T;ENSP00000412191:P198T	ENSP00000380252:P214T	P	-	1	0	NFE2L2	177804937	0.976000	0.34144	0.947000	0.38551	0.969000	0.65631	1.673000	0.37534	0.167000	0.19631	-0.136000	0.14681	CCA			0.343	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000257752.4		NM_006164		T	178096691	G	T	178096691	3	4	109	1	0	0	0	0	1	0	0	0	10385	1174	41	3	1181	3	NFE2L2	2	178096691	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	157588889	178096691	65102682	11	8125											
SPEG	10290	mdanderson.org	37	chr2	220342106	220342106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatggaggcgtctacacCtgcaccgcccagaacctggc	9	5	12	15	2	1	1	0	0	1	1	1	3	1	3	4	4	3	1	4	4	2	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr2:220342106C>T	ENST00000312358.7	+	20	4800	c.4668C>T	c.(4666-4668)acC>acT	p.T1556T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1556	Ig-like 8.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCGTCTACACCTGCACCGCCC	0.612																																					p.T1556T													.	SPEG	272		0			c.C4668T												36	43	41					2																	220342106		2079	4209	6288	SO:0001819	synonymous_variant	10290	exon20			CTACACCTGCACC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4668C>T	2.37:g.220342106C>T			52	0	0		56	0.05	3	NM_005876	7	0	0	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																					0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130252.2		NM_005876		T	220342106	C	T	220342106	2	4	109	1	0	0	0	0	0	0	0	1	15059	668	24	3		3	SPEG	2	220342106	Silent	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	42245415	220342106	22857267	12	8126											
WDFY1	57590	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	224809898	224809898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtgatcacgccgtcctccTtggggatgagcagcgcggcc	5	7	14	15	5	1	2	1	2	0	0	3	3	3	3	5	3	2	1	5	3	0	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr2:224809898T>C	ENST00000233055.4	-	1	206	c.104A>G	c.(103-105)aAg>aGg	p.K35R		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	35						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GCCGTCCTCCTTGGGGATGAG	0.741																																					p.K35R													.	.			0			c.A104G												14	16	15					2																	224809898		2186	4290	6476	SO:0001583	missense	57590	exon1			TCCTCCTTGGGGA	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.104A>G	2.37:g.224809898T>C	ENSP00000233055:p.Lys35Arg		32	0	0		32	0.22	7	NM_020830	109	0.26	28	Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428240	0.43122	.	.	ENSG00000085449	ENST00000233055;ENST00000429915	T;T	0.29397	1.57;1.57	4.1	2.94	0.34122	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066631	0.56097	N	0.000021	T	0.22936	0.0554	L	0.37800	1.135	0.51767	D	0.999936	B	0.12630	0.006	B	0.12156	0.007	T	0.04752	-1.0929	10	0.51188	T	0.08	-15.325	9.0159	0.36170	0.0:0.0896:0.0:0.9104	.	35	Q8IWB7	WDFY1_HUMAN	R	35	ENSP00000233055:K35R;ENSP00000395416:K35R	ENSP00000233055:K35R	K	-	2	0	WDFY1	224518142	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.784000	0.55416	0.627000	0.30340	0.533000	0.62120	AAG			0.741	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330908.1		NM_020830		C	224809898	T	C	224809898	3	2	109	1	0	0	0	0	1	0	0	0	17292	1609	56	4	1176	4	WDFY1	2	224809898	Missense_Mutation	SNP	T	TCGA-XE-A8H1-01A-11D-A435-10	4467792	224809898	18389475	13	8127											
B3GNT7	93010	mdanderson.org	37	chr2	232263526	232263526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgaacaaggagccgtgcTttttccgcgccatgctcgtg	7	10	12	12	4	0	1	0	1	0	0	2	2	1	2	3	1	4	3	3	1	2	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr2:232263526T>C	ENST00000287590.5	+	2	1357	c.1096T>C	c.(1096-1098)Ttt>Ctt	p.F366L		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	366					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 membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGAGCCGTGCTTTTTCCGCGC	0.647																																					p.F366L													.	B3GNT7	38		0			c.T1096C												25	30	28					2																	232263526		2127	4237	6364	SO:0001583	missense	93010	exon2			CCGTGCTTTTTCC	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.1096T>C	2.37:g.232263526T>C	ENSP00000287590:p.Phe366Leu		24	0	0		13	0.15	2	NM_145236	294	0	1	B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895187	0.33442	.	.	ENSG00000156966	ENST00000287590	T	0.35236	1.32	5.05	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	L	0.45744	1.44	0.58432	D	0.999997	P	0.48230	0.907	B	0.40329	0.326	T	0.04976	-1.0914	10	0.28530	T	0.3	.	11.2943	0.49269	0.0:0.0:0.1521:0.8479	.	366	Q8NFL0	B3GN7_HUMAN	L	366	ENSP00000287590:F366L	ENSP00000287590:F366L	F	+	1	0	B3GNT7	231971770	1.000000	0.71417	0.998000	0.56505	0.527000	0.34593	7.939000	0.87685	1.905000	0.55150	0.454000	0.30748	TTT			0.647	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000332827.1		NM_145236		C	232263526	T	C	232263526	3	2	109	1	0	0	0	0	1	0	0	0	1262	1609	56	4	1102	4	B3GNT7	2	232263526	Missense_Mutation	SNP	T	TCGA-XE-A8H1-01A-11D-A435-10	7453628	232263526	10935847	14	8128											
ULK4	54986	mdanderson.org	37	chr3	41705146	41705146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgactagcagtttcagaGcatatgctggtactgggtca	9	11	12	9	2	2	1	2	0	0	1	3	2	2	1	0	2	4	5	0	2	3	4			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr3:41705146G>T	ENST00000301831.4	-	30	3485	c.3023C>A	c.(3022-3024)gCt>gAt	p.A1008D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1008					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)		CAGTTTCAGAGCATATGCTGG	0.363																																					p.A1008D													.	ULK4	150		0			c.C3023A												133	131	132					3																	41705146		1867	4101	5968	SO:0001583	missense	54986	exon30			TTCAGAGCATATG	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.3023C>A	3.37:g.41705146G>T	ENSP00000301831:p.Ala1008Asp		76	0	0		55	0.05	3	NM_017886	10	0	0	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074055	0.76415	.	.	ENSG00000168038	ENST00000301831	T	0.73681	-0.77	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000008	T	0.80560	0.4646	L	0.54323	1.7	0.80722	D	1	D	0.61080	0.989	P	0.56474	0.799	T	0.81913	-0.0715	10	0.87932	D	0	.	15.6865	0.77415	0.0:0.0:1.0:0.0	.	1008	Q96C45	ULK4_HUMAN	D	1008	ENSP00000301831:A1008D	ENSP00000301831:A1008D	A	-	2	0	ULK4	41680150	0.989000	0.36119	0.717000	0.30585	0.632000	0.37999	4.052000	0.57420	2.781000	0.95711	0.650000	0.86243	GCT			0.363	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343490.1		XM_929989		T	41705146	G	T	41705146	3	4	109	1	0	0	0	0	1	0	0	0	17002	971	34	2	836	2	ULK4	3	41705146	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		41705146	156317284	15	8129											
PTPN23	25930	mdanderson.org	37	chr3	47448239	47448239	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaagttcggggagcGggtgagctacagcgaggagg	10	4	20	7	3	0	2	0	1	0	1	1	5	0	4	0	5	5	4	0	5	2	2	rs148327878		TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr3:47448239G>T	ENST00000265562.4	+	9	883	c.806G>T	c.(805-807)cGg>cTg	p.R269L	PTPN23_ENST00000431726.1_Splice_Site_p.R143L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	269	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCGGGGAGCGGGTGAGCTAC	0.617																																					p.R269L													.	PTPN23	85		0			c.G806T												34	44	40					3																	47448239		2202	4300	6502	SO:0001630	splice_region_variant	25930	exon9			GGGAGCGGGTGAG	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.807+1G>T	3.37:g.47448239G>T			117	0	0		99	0.04	4	NM_015466	117	0	0	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533100	0.85812	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.17528	2.27	5.11	2.16	0.27623	BRO1 domain (3);	0.296844	0.31257	N	0.007965	T	0.26521	0.0648	M	0.74647	2.275	0.80722	D	1	P;D	0.56746	0.787;0.977	B;P	0.50659	0.289;0.647	T	0.01729	-1.1286	10	0.66056	D	0.02	-17.2082	7.6909	0.28567	0.3673:0.0:0.6327:0.0	.	143;269	B4DST5;Q9H3S7	.;PTN23_HUMAN	L	234;269	ENSP00000265562:R269L	ENSP00000265562:R269L	R	+	2	0	PTPN23	47423243	1.000000	0.71417	0.998000	0.56505	0.700000	0.40528	3.150000	0.50662	0.126000	0.18424	0.655000	0.94253	CGG			0.617	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257492.2		NM_015466	Missense_Mutation	T	47448239	G	T	47448239	5	4	109	1	0	0	0	0	0	0	1	0	12811	1130	39	1	840	1	PTPN23	3	47448239	Splice_Site	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	5743093	47448239	150574191	16	8130											
PVRL3	25945	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr3	110831212	110831212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctctacaactgtaactGtgttaggtaggtatgcttga	10	14	10	7	0	1	1	0	1	1	0	2	1	2	1	1	2	4	5	1	2	6	6			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr3:110831212G>C	ENST00000485303.1	+	2	771	c.496G>C	c.(496-498)Gtg>Ctg	p.V166L	PVRL3_ENST00000319792.3_Missense_Mutation_p.V166L|PVRL3_ENST00000493615.1_Missense_Mutation_p.V143L	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	166					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AACTGTAACTGTGTTAGGTAG	0.318																																					p.V166L													.	PVRL3	78		0			c.G496C												99	98	98					3																	110831212		2200	4299	6499	SO:0001583	missense	25945	exon2			GTAACTGTGTTAG	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.496G>C	3.37:g.110831212G>C	ENSP00000418070:p.Val166Leu		213	0.0093896714	2		227	0.15	34	NM_001243286	15	0.33	5	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	CCDS2957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.973051|4.973051	0.92919|0.92919	.|.	.|.	ENSG00000177707|ENSG00000177707	ENST00000486596|ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	.|D;D;D;D;D	.|0.98329	.|-4.87;-4.87;-4.87;-4.87;-4.87	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98883|0.98883	0.9622|0.9622	M|M	0.79011|0.79011	2.435|2.435	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.995;0.998	D|D	0.99771|0.99771	1.1024|1.1024	5|10	.|0.87932	.|D	.|0	.|.	17.8133|17.8133	0.88623|0.88623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|143;166	.|E9PFR0;Q9NQS3	.|.;PVRL3_HUMAN	S|L	165|119;166;166;143;151	.|ENSP00000418327:V119L;ENSP00000418070:V166L;ENSP00000321514:V166L;ENSP00000420579:V143L;ENSP00000420479:V151L	.|ENSP00000321514:V166L	C|V	+|+	2|1	0|0	PVRL3|PVRL3	112313902|112313902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.542000|8.542000	0.90647|0.90647	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	TGT|GTG			0.318	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354045.1		NM_015480		C	110831212	G	C	110831212	3	2	109	1	0	0	0	0	1	0	0	0	12864	1377	48	5	502	5	PVRL3	3	110831212	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	63382973	110831212	87191218	17	8131											
NOP14	8602	mdanderson.org	37	chr4	2949327	2949327	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgtattccaaaagaaaGccaaacagtttctgcaggaa	17	7	7	10	1	1	1	0	0	1	1	2	2	2	2	3	1	4	3	3	1	7	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr4:2949327G>T	ENST00000314262.6	-	10	1473	c.1425C>A	c.(1423-1425)ggC>ggA	p.G475G	NOP14_ENST00000398071.4_Silent_p.G475G|NOP14_ENST00000502735.1_Silent_p.G475G|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000416614.2_Silent_p.G475G|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	475					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCAAAAGAAAGCCAAACAGTT	0.443																																					p.G475G													.	NOP14	69		0			c.C1425A												137	126	130					4																	2949327		2203	4300	6503	SO:0001819	synonymous_variant	8602	exon10			AAGAAAGCCAAAC	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1425C>A	4.37:g.2949327G>T			57	0	0		45	0.07	3	NM_003703	140	0.01	1	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																					0.443	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000358135.2		NM_003703		T	2949327	G	T	2949327	2	4	109	1	0	0	0	0	0	0	0	1	10553	958	34	2		2	NOP14	4	2949327	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		2949327	188204949	18	8132											
PCDH7	5099	mdanderson.org	37	chr4	30724751	30724751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcggtaagaacgccgaGatcgcctactcgctggactc	10	6	12	13	5	0	2	0	0	0	2	3	5	0	3	2	2	3	2	2	2	3	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr4:30724751G>T	ENST00000361762.2	+	1	2715	c.1707G>T	c.(1705-1707)gaG>gaT	p.E569D	PCDH7_ENST00000543491.1_Missense_Mutation_p.E569D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	569	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGAACGCCGAGATCGCCTACT	0.607																																					p.E569D													.	PCDH7	215		0			c.G1707T												46	42	43					4																	30724751		2203	4300	6503	SO:0001583	missense	5099	exon1			CGCCGAGATCGCC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1707G>T	4.37:g.30724751G>T	ENSP00000355243:p.Glu569Asp		80	0	0		55	0.05	3	NM_002589	2	0	0	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.35|12.35	1.910307|1.910307	0.33721|0.33721	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.51817	.|0.69;0.69	5.23|5.23	2.43|2.43	0.29744|0.29744	.|Cadherin (4);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.56731|0.56731	0.2005|0.2005	L|L	0.49640|0.49640	1.575|1.575	0.45648|0.45648	D|D	0.998578|0.998578	.|D;D;D	.|0.64830	.|0.992;0.992;0.994	.|D;D;D	.|0.68765	.|0.932;0.932;0.96	T|T	0.47947|0.47947	-0.9077|-0.9077	5|9	.|0.30078	.|T	.|0.28	.|.	10.3973|10.3973	0.44209|0.44209	0.2229:0.0:0.7771:0.0|0.2229:0.0:0.7771:0.0	.|.	.|569;522;569	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	Y|D	259|569;569;522	.|ENSP00000355243:E569D;ENSP00000441802:E569D	.|ENSP00000330302:E522D	D|E	+|+	1|3	0|2	PCDH7|PCDH7	30333849|30333849	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.691000|0.691000	0.40173|0.40173	1.590000|1.590000	0.36654|0.36654	0.289000|0.289000	0.22422|0.22422	0.655000|0.655000	0.94253|0.94253	GAT|GAG			0.607	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000360366.1		NM_032457, NM_002589		T	30724751	G	T	30724751	3	4	109	1	0	0	0	0	1	0	0	0	11533	933	33	3	1709	3	PCDH7	4	30724751	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	27775424	30724751	160429525	19	8133											
PDGFRA	5156	mdanderson.org	37	chr4	55153609	55153609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcagacctttctgcccGtgaagtggatggctcctgag	6	11	12	12	1	1	3	0	2	1	1	2	4	2	4	4	2	2	2	4	2	1	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr4:55153609G>A	ENST00000257290.5	+	19	2906	c.2575G>A	c.(2575-2577)Gtg>Atg	p.V859M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.V619M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	859	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTTTCTGCCCGTGAAGTGGAT	0.502			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.V859M	Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	.	PDGFRA	1583		0			c.G2575A												250	229	236					4																	55153609		2203	4300	6503	SO:0001583	missense	5156	exon19	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	CTGCCCGTGAAGT	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2575G>A	4.37:g.55153609G>A	ENSP00000257290:p.Val859Met		71	0	0		59	0.05	3	NM_006206	53	0	0	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027316	0.93518	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.84589	-1.87;-1.87	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29522	U	0.011903	D	0.90103	0.6908	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.90334	0.4354	10	0.87932	D	0	.	20.1466	0.98079	0.0:0.0:1.0:0.0	.	859	P16234	PGFRA_HUMAN	M	619;859	ENSP00000423325:V619M;ENSP00000257290:V859M	ENSP00000423325:V619M	V	+	1	0	FIP1L1;PDGFRA	54848366	1.000000	0.71417	0.982000	0.44146	0.935000	0.57460	7.795000	0.85887	2.779000	0.95612	0.591000	0.81541	GTG			0.502	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250598.2		NM_006206		A	55153609	G	A	55153609	3	1	109	1	0	0	0	0	1	0	0	0	11678	1145	40	1	2645	1	PDGFRA	4	55153609	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	24428858	55153609	136000667	20	8134											
TSPAN5	10098	mdanderson.org	37	chr4	99579371	99579371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacccttgtagtgcttccCggacatcctctgggttcatg	6	12	11	12	1	2	0	1	0	1	0	4	2	4	2	3	3	1	3	3	3	1	4			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr4:99579371C>T	ENST00000305798.3	-	1	409	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	TSPAN5_ENST00000505184.1_5'Flank|RP11-1299A16.3_ENST00000569927.1_RNA	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	3					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TAGTGCTTCCCGGACATCCTC	0.547																																					p.G3R													.	TSPAN5	32		0			c.G7A												120	116	117					4																	99579371		2203	4300	6503	SO:0001583	missense	10098	exon1			GCTTCCCGGACAT		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"Tetraspanins"	17753	protein-coding gene	gene with protein product		613136	"transmembrane 4 superfamily member 9"	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.7G>A	4.37:g.99579371C>T	ENSP00000307701:p.Gly3Arg		85	0	0		51	0.06	3	NM_005723	28	0	0	B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966994	0.53507	.	.	ENSG00000168785	ENST00000305798	T	0.28454	1.61	4.19	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	N	0.25647	0.755	0.80722	D	1	B	0.26547	0.152	B	0.23419	0.046	T	0.03981	-1.0987	10	0.12103	T	0.63	.	12.2449	0.54563	0.0:0.9162:0.0:0.0838	.	3	P62079	TSN5_HUMAN	R	3	ENSP00000307701:G3R	ENSP00000307701:G3R	G	-	1	0	TSPAN5	99798394	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.393000	0.73217	0.970000	0.38263	0.305000	0.20034	GGG			0.547	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253641.2		NM_005723		T	99579371	C	T	99579371	3	4	109	1	0	0	0	0	1	0	0	0	16674	652	23	1	831	1	TSPAN5	4	99579371	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	44425762	99579371	91574905	21	8135											
PCDHB10	56126	mdanderson.org	37	chr5	140573922	140573922	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggcgactcgggccagaaCgcctggctgtcgtaccagct	7	6	14	14	5	0	1	0	0	0	1	2	3	0	1	3	3	3	3	3	3	2	1	rs376773467		TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr5:140573922C>T	ENST00000239446.4	+	1	1981	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	599	Cadherin 6. {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)			CGGGCCAGAACGCCTGGCTGT	0.721																																					p.N599N													.	PCDHB10	177		0			c.C1797T												4	6	5					5																	140573922		1101	2431	3532	SO:0001819	synonymous_variant	56126	exon1			CCAGAACGCCTGG	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.1797C>T	5.37:g.140573922C>T			13	0	0		25	0.08	2	NM_018930	0		0	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																					0.721	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251821.1		NM_018930		T	140573922	C	T	140573922	2	4	109	1	0	0	0	0	0	0	0	1	11552	535	19	1		1	PCDHB10	5	140573922	Silent	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10		140573922	40341338	22	8136											
ZNF184	7738	mdanderson.org	37	chr6	27435652	27435652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaaactggctgatgagaGtagattatgtcccccttgga	11	11	11	8	0	0	4	0	3	0	2	1	6	1	5	2	2	1	2	2	2	4	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr6:27435652G>T	ENST00000211936.6	-	3	339	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	ZNF184_ENST00000377419.1_Missense_Mutation_p.L19I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCTGATGAGAGTAGATTATGT	0.413																																					p.L19I													.	ZNF184	89		0			c.C55A												72	71	71					6																	27435652		2203	4300	6503	SO:0001583	missense	7738	exon3			ATGAGAGTAGATT	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.55C>A	6.37:g.27435652G>T	ENSP00000211936:p.Leu19Ile		58	0	0		49	0.06	3	NM_007149	13	0	0	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627567	0.46944	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.06687	3.27;3.27	4.33	-0.428	0.12306	.	0.411189	0.18045	N	0.153485	T	0.02193	0.0068	L	0.46741	1.465	0.09310	N	1	B	0.32365	0.367	B	0.26864	0.074	T	0.38067	-0.9678	10	0.62326	D	0.03	.	7.2193	0.25977	0.502:0.0:0.498:0.0	.	19	Q99676	ZN184_HUMAN	I	19	ENSP00000211936:L19I;ENSP00000366636:L19I	ENSP00000211936:L19I	L	-	1	0	ZNF184	27543631	0.003000	0.15002	0.000000	0.03702	0.214000	0.24535	0.257000	0.18369	-0.112000	0.11979	-0.157000	0.13467	CTC			0.413	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040146.1		NM_007149		T	27435652	G	T	27435652	3	4	109	1	0	0	0	0	1	0	0	0	17774	1029	36	3	2216	3	ZNF184	6	27435652	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		27435652	143679415	23	8137											
ZBTB9	221504	mdanderson.org	37	chr6	33423522	33423522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaggtggaagaagaagaGgaggaggaggaagatgatga	17	5	18	1	0	1	6	1	2	0	4	1	11	1	11	0	6	0	0	0	6	4	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	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																																					p.E215E													.	ZBTB9	23		0			c.G645A												61	61	61					6																	33423522		2203	4300	6503	SO:0001819	synonymous_variant	221504	exon2			AGAAGAGGAGGAG	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			60	0	0		50	0.06	3	NM_152735	57	0	0	A2AB19	Silent	SNP	ENST00000395064.2	37	CCDS4780.1																																																																																					0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276533.1		NM_152735		A	33423522	G	A	33423522	2	1	109	1	0	0	0	0	0	0	0	1	17581	991	35	3		3	ZBTB9	6	33423522	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	5987870	33423522	137691545	24	8138											
DEF6	50619	broad.mit.edu	37	chr6	35287347	35287347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgaaggaggaggaggCtgcccggcagcggcagcgca	9	2	20	10	3	0	1	0	1	0	0	0	5	0	5	1	7	4	5	1	7	1	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr6:35287347C>A	ENST00000316637.5	+	8	1267	c.1262C>A	c.(1261-1263)gCt>gAt	p.A421D	DEF6_ENST00000542066.1_Missense_Mutation_p.A166D	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	421	Glu-rich.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GAGGAGGAGGCTGCCCGGCAG	0.642																																					p.A421D													.	DEF6	36		0			c.C1262A												35	40	38					6																	35287347		2203	4298	6501	SO:0001583	missense	50619	exon8			AGGAGGCTGCCCG	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1262C>A	6.37:g.35287347C>A	ENSP00000319831:p.Ala421Asp		182	0.032967033	6		159	0.04	7	NM_022047	34	0.06	2	Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935223	0.73442	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.29142	1.58;2.57	5.5	5.5	0.81552	.	0.105878	0.64402	D	0.000004	T	0.40767	0.1130	M	0.76574	2.34	0.80722	D	1	D;P;D	0.67145	0.996;0.933;0.966	P;P;P	0.62184	0.899;0.462;0.462	T	0.10245	-1.0638	10	0.19147	T	0.46	-13.0832	15.1127	0.72372	0.0:0.8592:0.1408:0.0	.	166;421;421	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	D	166;421	ENSP00000442166:A166D;ENSP00000319831:A421D	ENSP00000319831:A421D	A	+	2	0	DEF6	35395325	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	5.798000	0.69095	2.861000	0.98227	0.655000	0.94253	GCT			0.642	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040276.1		NM_022047		A	35287347	C	A	35287347	3	1	109	1	0	0	0	0	1	0	0	0	4388	797	28	2	1292	2	DEF6	6	35287347	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	1863825	35287347	135827720	25	8139											
RIPPLY2	134701	mdanderson.org	37	chr6	84563870	84563870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctttaccaattcaggCacccagtcaggtgagtgaca	13	8	10	10	0	2	2	2	2	0	0	2	3	2	2	2	2	2	2	2	2	3	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr6:84563870C>A	ENST00000369689.1	+	3	380	c.229C>A	c.(229-231)Cac>Aac	p.H77N	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.H19N	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	77	Ripply homology domain. {ECO:0000255}.				bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						CCAATTCAGGCACCCAGTCAG	0.617																																					p.H77N													.	RIPPLY2	17		0			c.C229A												91	85	87					6																	84563870		2203	4300	6503	SO:0001583	missense	134701	exon3			TTCAGGCACCCAG	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"chromosome 6 open reading frame 159", "ripply2 homolog (zebrafish)"	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.229C>A	6.37:g.84563870C>A	ENSP00000358703:p.His77Asn		61	0	0		49	0.06	3	NM_001009994	1	0	0	Q5TAB6	Missense_Mutation	SNP	ENST00000369689.1	37	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728324	0.48833	.	.	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.82056	2.57	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.80106	-0.1521	9	0.87932	D	0	-18.1922	15.0837	0.72133	0.0:1.0:0.0:0.0	.	77	Q5TAB7	RIPP2_HUMAN	N	77;19	.	ENSP00000358701:H19N	H	+	1	0	RIPPLY2	84620589	0.999000	0.42202	0.945000	0.38365	0.042000	0.13812	4.955000	0.63638	2.196000	0.70406	0.555000	0.69702	CAC			0.617	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041360.1		NM_001009994		A	84563870	C	A	84563870	3	1	109	1	0	0	0	0	1	0	0	0	13408	710	25	2	239	2	RIPPLY2	6	84563870	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	49276523	84563870	86551197	26	8140											
LRP11	84918	mdanderson.org	37	chr6	150164182	150164182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagcttctctgcccggCagtgtccgtcacggtcagct	5	10	12	14	3	4	1	3	0	1	1	6	1	5	1	2	2	3	3	2	2	0	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr6:150164182C>T	ENST00000239367.2	-	3	855	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	LRP11_ENST00000546019.1_Missense_Mutation_p.A29T|LRP11_ENST00000367368.2_Missense_Mutation_p.A284T	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	284	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CTCTGCCCGGCAGTGTCCGTC	0.577																																					p.A284T													.	LRP11	27		0			c.G850A												139	101	114					6																	150164182		2203	4300	6503	SO:0001583	missense	84918	exon3			GCCCGGCAGTGTC	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.850G>A	6.37:g.150164182C>T	ENSP00000239367:p.Ala284Thr		89	0	0		55	0.05	3	NM_032832	44	0	0	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272045	0.40194	.	.	ENSG00000120256	ENST00000239367;ENST00000546019;ENST00000367368	T;T;T	0.14144	2.53;2.53;2.53	5.05	5.05	0.67936	PKD/Chitinase domain (1);PKD domain (3);	0.654641	0.15921	N	0.238119	T	0.11836	0.0288	L	0.58354	1.805	0.09310	N	1	D;P	0.54772	0.968;0.937	P;B	0.50970	0.655;0.328	T	0.09422	-1.0675	10	0.32370	T	0.25	-7.9454	12.3118	0.54933	0.1694:0.8306:0.0:0.0	.	284;284	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	T	284;29;284	ENSP00000239367:A284T;ENSP00000440196:A29T;ENSP00000356338:A284T	ENSP00000239367:A284T	A	-	1	0	LRP11	150205875	0.048000	0.20356	0.039000	0.18376	0.098000	0.18820	1.847000	0.39299	2.356000	0.79943	0.655000	0.94253	GCC			0.577	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042664.1		NM_032832		T	150164182	C	T	150164182	3	4	109	1	0	0	0	0	1	0	0	0	8969	710	25	2	672	2	LRP11	6	150164182	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	65600312	150164182	20950885	27	8141											
UNCX	340260	broad.mit.edu	37	chr7	1275520	1275520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaggagaacacgaaaaAgggcccggggcggccggcgc	13	0	18	10	5	0	2	0	0	0	2	0	5	0	2	2	6	1	0	2	6	5	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr7:1275520A>G	ENST00000316333.8	+	3	614	c.503A>G	c.(502-504)aAg>aGg	p.K168R		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	168					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AACACGAAAAAGGGCCCGGGG	0.657																																					p.K168R													.	UNCX	17		0			c.A503G												16	22	20					7																	1275520		2191	4291	6482	SO:0001583	missense	340260	exon3			CGAAAAAGGGCCC		CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"Homeoboxes / PRD class"	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.503A>G	7.37:g.1275520A>G	ENSP00000314480:p.Lys168Arg		167	0	0		149	0.03	5	NM_001080461	8	0	0	A4D221	Missense_Mutation	SNP	ENST00000316333.8	37	CCDS34583.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596756	0.46318	.	.	ENSG00000164853	ENST00000316333	D	0.91843	-2.92	3.79	3.79	0.43588	.	0.327682	0.23189	N	0.050938	D	0.90926	0.7148	N	0.17278	0.47	0.39566	D	0.969207	D	0.58620	0.983	D	0.65233	0.933	D	0.91867	0.5504	10	0.66056	D	0.02	-10.2036	11.555	0.50741	1.0:0.0:0.0:0.0	.	168	A6NJT0	UNC4_HUMAN	R	168	ENSP00000314480:K168R	ENSP00000314480:K168R	K	+	2	0	UNCX	1242046	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.459000	0.66685	1.609000	0.50190	0.329000	0.21502	AAG			0.657	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324910.2		NM_001080461		G	1275520	A	G	1275520	3	3	109	1	0	0	0	0	1	0	0	0	17022	72	3	4	513	4	UNCX	7	1275520	Missense_Mutation	SNP	A	TCGA-XE-A8H1-01A-11D-A435-10		1275520	157863143	28	8142											
ZAN	7455	broad.mit.edu	37	chr7	100349991	100349991	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaaaaacccaccatcTccccagaaaaacccaccacc	17	2	2	20	0	1	2	0	0	1	2	2	2	1	2	8	0	2	0	8	0	4	0	rs560599163	byFrequency	TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr7:100349991T>C	ENST00000348028.3	+	0	2428				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_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)		p.S755P(5)		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)			ACCCACCATCTCCCCAGAAAA	0.517													t|||	35	0.00698882	0.0038	0.0101	5008	,	,		14901	0.005		0.0129	False		,,,				2504	0.0051				.													ZAN_ENST00000542585,NS,carcinoma,0,5	ZAN	658	5	5	Substitution - Missense(5)	endometrium(4)|NS(1)	.												122	136	131					7																	100349991		1816	4060	5876			7455	.			ACCATCTCCCCAG	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.100349991T>C			95	0.0736842105	7		74	0.12	9	.	0		0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	t	5.435	0.265377	0.10294	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63255	-0.03;0.11;-0.03	4.24	0.21	0.15231	.	.	.	.	.	T	0.29716	0.0742	N	0.01140	-0.99	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.33940	T	0.23	.	7.9077	0.29771	0.0:0.5221:0.0:0.4779	.	755;755	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	755	ENSP00000445943:S755P;ENSP00000445091:S755P;ENSP00000444427:S755P	ENSP00000423579:S755P	S	+	1	0	ZAN	100187927	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.770000	0.00371	-0.086000	0.12550	-0.766000	0.03442	TCC			0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000347214.1		NM_003386		C	100349991	T	C	100349991	1	2	109	0	1	0	0	0	0	0	0	0	17537	1551	54	4		4	ZAN	7	100349991	RNA	SNP	T	TCGA-XE-A8H1-01A-11D-A435-10	99074471	100349991	58788672	29	8143											
ZAN	7455	broad.mit.edu	37	chr7	100350655	100350655	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccatccccacggaaaaacTtaccatccccacggaaaaac	16	4	4	17	2	0	0	0	0	0	0	2	2	2	2	6	2	3	0	6	2	5	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr7:100350655T>C	ENST00000348028.3	+	0	3092				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_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)			ACGGAAAAACTTACCATCCCC	0.552																																					.													.	ZAN	658		0			.												200	230	220					7																	100350655		1893	4107	6000			7455	.			AAAAACTTACCAT	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.100350655T>C			139	0.0071942446	1		83	0.07	6	.	3	0	0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	t	3.429	-0.116570	0.06838	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.62	1.78	0.24846	.	1.876470	0.03289	N	0.187368	T	0.38852	0.1056	N	0.04880	-0.145	0.09310	N	0.999997	B;B	0.13594	0.008;0.006	B;B	0.15484	0.007;0.013	T	0.25950	-1.0117	10	0.26408	T	0.33	.	9.7909	0.40706	0.0:0.7921:0.0:0.2079	.	976;976	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	976	ENSP00000445943:L976P;ENSP00000445091:L976P;ENSP00000444427:L976P	ENSP00000423579:L976P	L	+	2	0	ZAN	100188591	0.015000	0.18098	0.000000	0.03702	0.000000	0.00434	0.903000	0.28475	0.017000	0.15025	-0.716000	0.03619	CTT			0.552	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000347214.1		NM_003386		C	100350655	T	C	100350655	1	2	109	0	1	0	0	0	0	0	0	0	17537	1609	56	4		4	ZAN	7	100350655	RNA	SNP	T	TCGA-XE-A8H1-01A-11D-A435-10	664	100350655	58788008	30	8144											
MFHAS1	9258	broad.mit.edu	37	chr8	8748487	8748487	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtcggtcctcggtcagAcccgcctgcaggcccaagcg	6	6	13	16	4	1	1	1	0	0	1	4	1	2	1	4	3	3	2	4	3	1	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr8:8748487A>C	ENST00000276282.6	-	1	2668	c.2082T>G	c.(2080-2082)ggT>ggG	p.G694G		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	694										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCTCGGTCAGACCCGCCTGCA	0.627																																					p.G694G	Melanoma(103;1201 2045 17515 28966)												.	MFHAS1	58		0			c.T2082G												43	42	42					8																	8748487		2203	4300	6503	SO:0001819	synonymous_variant	9258	exon1			GGTCAGACCCGCC	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2082T>G	8.37:g.8748487A>C			57	0.2631578947	15		60	0.23	14	NM_004225	62	0.1	6	Q96CI0	Silent	SNP	ENST00000276282.6	37	CCDS34844.1																																																																																					0.627	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374724.2		NM_004225		C	8748487	A	C	8748487	2	2	109	1	0	0	0	0	0	0	0	1	9537	262	10	4		4	MFHAS1	8	8748487	Silent	SNP	A	TCGA-XE-A8H1-01A-11D-A435-10		8748487	137615535	31	8145											
CPSF1	29894	mdanderson.org	37	chr8	145618734	145618734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctcaggtacaggtagCggttgagcagctccccatcc	7	9	13	12	1	1	1	1	1	0	0	3	1	3	1	3	4	5	6	3	4	2	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr8:145618734C>T	ENST00000349769.3	-	37	4311	c.4217G>A	c.(4216-4218)cGc>cAc	p.R1406H	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1406					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTACAGGTAGCGGTTGAGCAG	0.677																																					p.R1406H	NSCLC(133;1088 1848 27708 34777 35269)												.	CPSF1	92		0			c.G4217A												40	32	34					8																	145618734		2190	4290	6480	SO:0001583	missense	29894	exon37			AGGTAGCGGTTGA	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.4217G>A	8.37:g.145618734C>T	ENSP00000339353:p.Arg1406His		69	0	0		44	0.07	3	NM_013291	784	0	0	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534111	0.64972	.	.	ENSG00000071894	ENST00000349769	T	0.50001	0.76	4.88	4.88	0.63580	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.070230	0.56097	D	0.000035	T	0.40196	0.1107	L	0.43646	1.37	0.41175	D	0.986197	B	0.27997	0.197	B	0.26969	0.075	T	0.23726	-1.0180	10	0.20519	T	0.43	-30.841	15.5245	0.75890	0.0:1.0:0.0:0.0	.	1406	Q10570	CPSF1_HUMAN	H	1406	ENSP00000339353:R1406H	ENSP00000339353:R1406H	R	-	2	0	CPSF1	145589542	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.240000	0.58701	2.253000	0.74438	0.561000	0.74099	CGC			0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291		T	145618734	C	T	145618734	3	4	109	1	0	0	0	0	1	0	0	0	3826	768	27	1	122	1	CPSF1	8	145618734	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	136870247	145618734	745288	32	8146											
NPR2	4882	mdanderson.org	37	chr9	35792487	35792487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcgcggaacctgacgctgGcggtggtgctgccagaacac	7	5	17	12	4	0	2	0	1	0	1	0	3	0	3	2	5	4	2	2	5	2	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr9:35792487G>T	ENST00000342694.2	+	1	337	c.82G>T	c.(82-84)Gcg>Tcg	p.A28S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	28					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCTGACGCTGGCGGTGGTGCT	0.687																																					p.A28S													.	NPR2	162		0			c.G82T												33	35	34					9																	35792487		2201	4298	6499	SO:0001583	missense	4882	exon1			ACGCTGGCGGTGG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.82G>T	9.37:g.35792487G>T	ENSP00000341083:p.Ala28Ser		22	0	0		42	0.07	3	NM_003995	6	0	0	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685618	0.88639	.	.	ENSG00000159899	ENST00000342694	T	0.75938	-0.98	4.09	4.09	0.47781	.	0.000000	0.43919	D	0.000518	T	0.66317	0.2777	N	0.08118	0	0.58432	D	0.999997	P;P	0.51449	0.945;0.919	P;B	0.53593	0.73;0.214	T	0.72906	-0.4150	10	0.59425	D	0.04	.	13.5193	0.61559	0.0:0.0:1.0:0.0	.	28;28	P20594-2;P20594	.;ANPRB_HUMAN	S	28	ENSP00000341083:A28S	ENSP00000341083:A28S	A	+	1	0	NPR2	35782487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.892000	0.92491	2.261000	0.74972	0.563000	0.77884	GCG			0.687	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052345.1				T	35792487	G	T	35792487	3	4	109	1	0	0	0	0	1	0	0	0	10612	1203	42	2	84	2	NPR2	9	35792487	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		35792487	105420944	33	8147											
IPPK	64768	mdanderson.org	37	chr9	95400366	95400366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccggactcagggtgcctGcccggcccttgtccgagcca	4	6	13	18	3	1	0	1	0	0	0	2	2	2	1	7	3	3	0	7	3	0	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr9:95400366G>T	ENST00000287996.3	-	9	1109	c.833C>A	c.(832-834)gCa>gAa	p.A278E	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	278					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CAGGGTGCCTGCCCGGCCCTT	0.682																																					p.A278E													.	IPPK	34		0			c.C833A												22	24	23					9																	95400366		2202	4299	6501	SO:0001583	missense	64768	exon9			GTGCCTGCCCGGC	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.833C>A	9.37:g.95400366G>T	ENSP00000287996:p.Ala278Glu		50	0	0		42	0.07	3	NM_022755	57	0	0	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	G	7.593	0.671070	0.14776	.	.	ENSG00000127080	ENST00000287996	T	0.28666	1.6	5.11	-1.1	0.09872	.	0.855874	0.10573	N	0.658856	T	0.13543	0.0328	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.35251	-0.9796	10	0.02654	T	1	0.5329	10.1457	0.42762	0.3965:0.0:0.6035:0.0	.	278	Q9H8X2	IPPK_HUMAN	E	278	ENSP00000287996:A278E	ENSP00000287996:A278E	A	-	2	0	IPPK	94440187	0.428000	0.25522	0.000000	0.03702	0.211000	0.24417	0.964000	0.29306	-0.437000	0.07243	-0.379000	0.06801	GCA			0.682	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053101.1		NM_022755		T	95400366	G	T	95400366	3	4	109	1	0	0	0	0	1	0	0	0	7816	1319	46	2	662	2	IPPK	9	95400366	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	59607879	95400366	45813065	34	8148											
CUL2	8453	mdanderson.org	37	chr10	35300781	35300781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctccttttacctcttGaataagggcattgtgccgaa	8	13	8	12	1	1	1	0	1	1	0	2	2	2	1	4	1	3	1	4	1	4	5			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr10:35300781G>T	ENST00000374748.1	-	21	2414	c.2101C>A	c.(2101-2103)Caa>Aaa	p.Q701K	CUL2_ENST00000537177.1_Missense_Mutation_p.Q720K|CUL2_ENST00000374746.1_Intron|CUL2_ENST00000374749.3_Missense_Mutation_p.Q701K|CUL2_ENST00000374751.3_Missense_Mutation_p.Q701K|CUL2_ENST00000602371.1_Missense_Mutation_p.Q644K|CUL2_ENST00000374742.1_Intron			Q13617	CUL2_HUMAN	cullin 2	701					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTACCTCTTGAATAAGGGCA	0.433																																					p.Q720K													.	CUL2	63		0			c.C2158A												120	112	115					10																	35300781		2203	4300	6503	SO:0001583	missense	8453	exon20			CCTCTTGAATAAG	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.2101C>A	10.37:g.35300781G>T	ENSP00000363880:p.Gln701Lys		62	0	0		59	0.05	3	NM_001198778	199	0	0	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422402	0.83559	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374749;ENST00000374754;ENST00000537177	T;T;T;T	0.69040	-0.36;-0.36;-0.36;-0.37	6.08	6.08	0.98989	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	M	0.67569	2.06	0.80722	D	1	P;P	0.39044	0.454;0.656	P;P	0.45577	0.474;0.486	T	0.65224	-0.6220	10	0.15066	T	0.55	-14.5411	20.6634	0.99662	0.0:0.0:1.0:0.0	.	720;701	G3V1S2;Q13617	.;CUL2_HUMAN	K	701;701;701;644;720	ENSP00000363883:Q701K;ENSP00000363880:Q701K;ENSP00000363881:Q701K;ENSP00000444856:Q720K	ENSP00000363880:Q701K	Q	-	1	0	CUL2	35340787	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.841000	0.99482	2.894000	0.99253	0.655000	0.94253	CAA			0.433	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047538.1		NM_003591		T	35300781	G	T	35300781	3	4	109	1	0	0	0	0	1	0	0	0	4057	1299	45	3	144	3	CUL2	10	35300781	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		35300781	100233966	35	8149											
ERCC6	2074	mdanderson.org	37	chr10	50708743	50708743	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taacacctgtctgctggtacCtatgacaacaaacaccaaca	15	8	5	13	0	1	1	0	1	1	0	1	1	1	1	3	1	6	2	3	1	6	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr10:50708743C>A	ENST00000355832.5	-	7	1605		c.e7-1		ERCC6_ENST00000542458.1_Splice_Site	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6						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						CTGCTGGTACCTATGACAACA	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																													.													.	ERCC6	162		0			c.1527-1G>T												79	74	76					10																	50708743		2203	4300	6503	SO:0001630	splice_region_variant	2074	exon8			TGGTACCTATGAC	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.1527-1G>T	10.37:g.50708743C>A			54	0	0		49	0.06	3	NM_000124	0		0	D3DX94|Q5W0L9	Splice_Site	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781476	0.70222	.	.	ENSG00000225830	ENST00000355832	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERCC6	50378749	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	.			0.433	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047990.1		NM_000124	Intron	A	50708743	C	A	50708743	5	1	109	1	0	0	0	0	0	0	1	0	5224	695	24	3	3015	3	ERCC6	10	50708743	Splice_Site	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	15407962	50708743	84826004	36	8150											
ANXA7	310	mdanderson.org	37	chr10	75138760	75138760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcagcaaagaaggcaGggcggttcagggcacactgc	10	5	14	12	1	2	1	2	0	1	1	3	1	2	1	1	4	2	4	1	4	2	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr10:75138760G>T	ENST00000372921.5	-	12	1243	c.1187C>A	c.(1186-1188)cCt>cAt	p.P396H	RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000535178.1_Missense_Mutation_p.P266H	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	418					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)					AAAGAAGGCAGGGCGGTTCAG	0.502																																					p.P418H													.	ANXA7	50		0			c.C1253A												86	64	72					10																	75138760		2203	4300	6503	SO:0001583	missense	310	exon13			AAGGCAGGGCGGT	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.1187C>A	10.37:g.75138760G>T	ENSP00000362012:p.Pro396His		70	0	0		46	0.07	3	NM_004034	361	0	0	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231840	0.58777	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.05513	3.43;3.43;3.43	5.91	5.0	0.66597	.	0.176184	0.40469	N	0.001091	T	0.17195	0.0413	M	0.79693	2.465	0.48135	D	0.999599	D;D;P	0.63046	0.986;0.992;0.826	B;P;B	0.49853	0.42;0.624;0.215	T	0.01596	-1.1316	10	0.59425	D	0.04	.	14.2114	0.65767	0.0:0.0:0.8494:0.1506	.	396;396;418	Q53HM8;P20073-2;P20073	.;.;ANXA7_HUMAN	H	396;418;266	ENSP00000362012:P396H;ENSP00000362010:P418H;ENSP00000442864:P266H	ENSP00000362010:P418H	P	-	2	0	ANXA7	74808766	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	6.258000	0.72487	1.474000	0.48178	0.655000	0.94253	CCT			0.502	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048646.2		NM_001156		T	75138760	G	T	75138760	3	4	109	1	0	0	0	0	1	0	0	0	723	1000	35	3	221	3	ANXA7	10	75138760	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	24430017	75138760	60395987	37	8151											
EXOC6	54536	broad.mit.edu	37	chr10	94773973	94773973	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccagctctgagcctgtGccaggattccagggggatac	7	10	13	11	0	1	1	0	1	1	0	2	3	2	3	4	3	5	1	4	3	1	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr10:94773973G>T	ENST00000260762.6	+	20	2132	c.2118G>T	c.(2116-2118)gtG>gtT	p.V706V	EXOC6_ENST00000443748.2_Silent_p.V603V|EXOC6_ENST00000371547.4_Silent_p.V722V|EXOC6_ENST00000371552.4_Silent_p.V701V	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	706					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CTGAGCCTGTGCCAGGATTCC	0.363																																					p.V706V													.	EXOC6	147		0			c.G2118T												84	85	85					10																	94773973		2203	4300	6503	SO:0001819	synonymous_variant	54536	exon20			GCCTGTGCCAGGA	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2118G>T	10.37:g.94773973G>T			385	0.0025974026	1		364	0.01	5	NM_019053	32	0	0	E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	ENST00000260762.6	37	CCDS7424.2																																																																																					0.363	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049410.2		NM_019053		T	94773973	G	T	94773973	2	4	109	1	0	0	0	0	0	0	0	1	5315	1306	46	2		2	EXOC6	10	94773973	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	19635213	94773973	40760774	38	8152											
ZDHHC16	84287	mdanderson.org	37	chr10	99214534	99214534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgactcacaagagtcttGtctacctctggttcctgtgc	7	13	10	11	0	4	2	1	1	3	1	5	3	5	3	2	2	2	1	2	2	2	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr10:99214534G>T	ENST00000370854.3	+	8	991	c.802G>T	c.(802-804)Gtc>Ttc	p.V268F	ZDHHC16_ENST00000353979.3_Missense_Mutation_p.V229F|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.V268F|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.V187F|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.V252F|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.V252F	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	268					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)		CAAGAGTCTTGTCTACCTCTG	0.448																																					p.V268F													.	ZDHHC16	25		0			c.G802T												152	147	149					10																	99214534		2203	4300	6503	SO:0001583	missense	84287	exon9			AGTCTTGTCTACC	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.802G>T	10.37:g.99214534G>T	ENSP00000359891:p.Val268Phe		126	0	0		148	0.04	6	NM_198046	423	0	0	D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	CCDS7460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.28|14.28	2.488251|2.488251	0.44249|0.44249	.|.	.|.	ENSG00000171307|ENSG00000171307	ENST00000420089;ENST00000417044|ENST00000370854;ENST00000393760;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	T;T|T;T;T;T;T;T	0.68181|0.22743	0.11;-0.31|1.94;1.94;1.94;1.94;1.94;1.94	5.88|5.88	4.03|4.03	0.46877|0.46877	.|.	.|0.132647	.|0.52532	.|D	.|0.000061	T|T	0.28499|0.28499	0.0705|0.0705	L|L	0.47190|0.47190	1.495|1.495	0.58432|0.58432	D|D	0.999997|0.999997	.|D;B;D;B;B;B;B	.|0.56287	.|0.957;0.004;0.975;0.056;0.001;0.036;0.364	.|P;B;P;B;B;B;B	.|0.56088	.|0.791;0.014;0.71;0.192;0.012;0.034;0.188	T|T	0.01643|0.01643	-1.1305|-1.1305	6|10	.|0.37606	.|T	.|0.19	-16.4692|-16.4692	8.3779|8.3779	0.32453|0.32453	0.2361:0.0:0.7639:0.0|0.2361:0.0:0.7639:0.0	.|.	.|268;203;227;229;187;252;268	.|B4DNL2;E9PCL9;B1AMU1;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1	.|.;.;.;.;.;.;ZDH16_HUMAN	F|F	227;209|268;268;252;229;252;187;203	ENSP00000405240:L227F;ENSP00000396286:L209F|ENSP00000359891:V268F;ENSP00000377357:V268F;ENSP00000345383:V252F;ENSP00000359879:V252F;ENSP00000304487:V187F;ENSP00000398532:V203F	.|ENSP00000304487:V187F	L|V	+|+	3|1	2|0	ZDHHC16|ZDHHC16	99204524|99204524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.759000|2.759000	0.47573|0.47573	1.495000|1.495000	0.48549|0.48549	0.655000|0.655000	0.94253|0.94253	TTG|GTC			0.448	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049658.2		NM_032327		T	99214534	G	T	99214534	3	4	109	1	0	0	0	0	1	0	0	0	17629	1377	48	3	828	3	ZDHHC16	10	99214534	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	4440561	99214534	36320213	39	8153											
HPS6	79803	mdanderson.org	37	chr10	103825727	103825727	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccactgtgtgtgcgtcCggactctggagcccagcggg	5	8	15	13	3	2	0	1	0	1	0	3	2	3	2	3	3	4	0	3	3	0	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr10:103825727C>A	ENST00000299238.5	+	1	581	c.496C>A	c.(496-498)Cgg>Agg	p.R166R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	166					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TGTGTGCGTCCGGACTCTGGA	0.721									Hermansky-Pudlak syndrome																												p.R166R													.	HPS6	38		0			c.C496A												10	12	11					10																	103825727		2174	4274	6448	SO:0001819	synonymous_variant	79803	exon1	Familial Cancer Database	HPS, HPS1-8	TGCGTCCGGACTC	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.496C>A	10.37:g.103825727C>A			18	0	0		16	0.13	2	NM_024747	31	0.1	3	Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	CCDS7527.1																																																																																					0.721	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050018.2		NM_024747		A	103825727	C	A	103825727	2	1	109	1	0	0	0	0	0	0	0	1	7358	643	23	1		1	HPS6	10	103825727	Silent	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	4611193	103825727	31709020	40	8154											
PPRC1	23082	mdanderson.org	37	chr10	103892979	103892979	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgagcggcggcgagcagGtgagaggttggctggcggcc	5	6	21	9	4	0	2	0	2	0	1	0	4	0	2	1	7	2	3	1	7	0	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr10:103892979G>T	ENST00000278070.2	+	1	192		c.e1+1		PPRC1_ENST00000413464.2_Splice_Site	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1						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)		CGGCGAGCAGGTGAGAGGTTG	0.697																																					.													.	PPRC1	151		0			c.153+1G>T												10	9	10					10																	103892979		2163	4262	6425	SO:0001630	splice_region_variant	23082	exon1			GAGCAGGTGAGAG	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.153+1G>T	10.37:g.103892979G>T			44	0	0		51	0.06	3	NM_015062	5	0	0	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Splice_Site	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569476	0.86439	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2264	0.82298	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPRC1	103882969	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.703000	0.61824	2.700000	0.92200	0.462000	0.41574	.			0.697	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050021.1		NM_015062	Intron	T	103892979	G	T	103892979	5	4	109	1	0	0	0	0	0	0	1	0	12430	1275	44	3	156	3	PPRC1	10	103892979	Splice_Site	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	67252	103892979	31641768	41	8155											
TH	7054	mdanderson.org	37	chr11	2188684	2188684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggcaatctcctcggCggtgtactccacacggggaa	8	7	13	13	3	1	0	0	0	1	0	4	1	2	1	3	6	1	2	3	6	3	1	rs549188961	byFrequency	TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr11:2188684C>T	ENST00000381178.1	-	7	787	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	TH_ENST00000352909.3_Missense_Mutation_p.A226T|TH_ENST00000333684.5_Missense_Mutation_p.A230T|TH_ENST00000381175.1_Missense_Mutation_p.A253T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	257					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ATCTCCTCGGCGGTGTACTCC	0.697													C|||	2	0.000399361	0	0	5008	,	,		14851	0		0	False		,,,				2504	0.002				p.A257T													.	TH	43		0			c.G769A												16	16	16					11																	2188684		2163	4262	6425	SO:0001583	missense	7054	exon7			CCTCGGCGGTGTA	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.769G>A	11.37:g.2188684C>T	ENSP00000370571:p.Ala257Thr		69	0	0		54	0.06	3	NM_199292	0		0	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.069|8.069	0.769860|0.769860	0.15983|0.15983	.|.	.|.	ENSG00000180176|ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684|ENST00000412076	D;D;D;D|.	0.99532|.	-6.1;-6.1;-6.1;-6.1|.	2.88|2.88	1.92|1.92	0.25849|0.25849	Aromatic amino acid hydroxylase, C-terminal (3);|.	0.465118|.	0.21692|.	U|.	0.070556|.	T|T	0.46328|0.46328	0.1387|0.1387	M|M	0.71920|0.71920	2.185|2.185	0.09310|0.09310	N|N	1|1	B;P;P;B;P;P|.	0.37525|.	0.1;0.543;0.543;0.346;0.598;0.543|.	B;B;B;B;B;B|.	0.32677|.	0.019;0.042;0.042;0.093;0.15;0.093|.	T|T	0.36359|0.36359	-0.9751|-0.9751	10|5	0.87932|.	D|.	0|.	-21.1242|-21.1242	5.904|5.904	0.18982|0.18982	0.0:0.6931:0.1932:0.1137|0.0:0.6931:0.1932:0.1137	.|.	230;230;226;226;257;253|.	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2|.	.;.;.;.;TY3H_HUMAN;.|.	T|H	257;253;226;230|39	ENSP00000370571:A257T;ENSP00000370567:A253T;ENSP00000325951:A226T;ENSP00000328814:A230T|.	ENSP00000328814:A230T|.	A|R	-|-	1|2	0|0	TH|TH	2145260|2145260	0.005000|0.005000	0.15991|0.15991	0.123000|0.123000	0.21794|0.21794	0.224000|0.224000	0.24922|0.24922	1.327000|1.327000	0.33746|0.33746	0.503000|0.503000	0.28060|0.28060	0.313000|0.313000	0.20887|0.20887	GCC|CGC			0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000026597.1		NM_000360		T	2188684	C	T	2188684	3	4	109	1	0	0	0	0	1	0	0	0	15861	768	27	1	849	1	TH	11	2188684	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10		2188684	132817832	42	8156											
ILK	3611	mdanderson.org	37	chr11	6625505	6625505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgccgggacgctgctatgGacgacattttcactcagtgc	7	9	13	12	4	2	0	2	0	0	0	2	3	2	2	1	3	2	2	1	3	1	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr11:6625505G>T	ENST00000396751.2	+	1	460	c.4G>T	c.(4-6)Gac>Tac	p.D2Y	ILK_ENST00000299421.4_Missense_Mutation_p.D2Y|ILK_ENST00000537806.1_5'UTR|ILK_ENST00000528995.1_Missense_Mutation_p.D2Y|RRP8_ENST00000254605.6_5'Flank|RRP8_ENST00000534343.1_5'Flank|ILK_ENST00000420936.2_Missense_Mutation_p.D2Y|RP11-732A19.8_ENST00000527191.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	2					branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|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 dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CGCTGCTATGGACGACATTTT	0.597																																					p.D2Y													.	ILK	41		0			c.G4T												37	34	35					11																	6625505		2201	4295	6496	SO:0001583	missense	3611	exon2			GCTATGGACGACA	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.4G>T	11.37:g.6625505G>T	ENSP00000379975:p.Asp2Tyr		39	0	0		36	0.08	3	NM_001014794	200	0	0	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	CCDS7768.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539373	0.96474	.	.	ENSG00000166333	ENST00000299421;ENST00000420936;ENST00000528995;ENST00000396751	T;T;T;T	0.80909	-1.37;-1.37;-1.43;-1.37	5.01	5.01	0.66863	.	0.048085	0.85682	D	0.000000	D	0.84915	0.5578	L	0.41356	1.27	0.80722	D	1	D;D	0.76494	0.987;0.999	P;D	0.66847	0.86;0.947	D	0.86384	0.1731	10	0.87932	D	0	.	15.8497	0.78921	0.0:0.0:1.0:0.0	.	2;2	B7Z418;Q13418	.;ILK_HUMAN	Y	2	ENSP00000299421:D2Y;ENSP00000403487:D2Y;ENSP00000435323:D2Y;ENSP00000379975:D2Y	ENSP00000299421:D2Y	D	+	1	0	ILK	6582081	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.876000	0.92379	2.612000	0.88384	0.561000	0.74099	GAC			0.597	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384519.1		NM_004517		T	6625505	G	T	6625505	3	4	109	1	0	0	0	0	1	0	0	0	7728	1174	41	3	6	3	ILK	11	6625505	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	4436821	6625505	128381011	43	8157											
ABCC8	6833	mdanderson.org	37	chr11	17464383	17464383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcttcagcagcttgatgCcgcggagcatctcgttggtc	7	10	12	12	3	2	1	1	1	1	0	4	2	2	2	1	2	5	5	1	2	0	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr11:17464383C>T	ENST00000389817.3	-	10	1582	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	ABCC8_ENST00000528202.1_5'Flank|ABCC8_ENST00000302539.4_Missense_Mutation_p.G505D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	505	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	CAGCTTGATGCCGCGGAGCAT	0.622																																					p.G505D													.	ABCC8	170		0			c.G1514A												93	87	89					11																	17464383		2200	4293	6493	SO:0001583	missense	6833	exon10			TTGATGCCGCGGA	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.1514G>A	11.37:g.17464383C>T	ENSP00000374467:p.Gly505Asp		55	0	0		47	0.06	3	NM_000352	2	0	0	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592633	0.96602	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.93019	-3.15;-3.15	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98290	1.0513	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	504;505	B7Z4N0;Q09428	.;ABCC8_HUMAN	D	505;505;519	ENSP00000374467:G505D;ENSP00000303960:G505D	ENSP00000303960:G505D	G	-	2	0	ABCC8	17420959	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.807000	0.86032	2.865000	0.98341	0.655000	0.94253	GGC			0.622	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000389093.1		NM_000352		T	17464383	C	T	17464383	3	4	109	1	0	0	0	0	1	0	0	0	58	739	26	2	3351	2	ABCC8	11	17464383	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	10838878	17464383	117542133	44	8158											
PCNXL3	399909	mdanderson.org	37	chr11	65386388	65386388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgttctgaggcccccactgGctggctgcaaggcagagctg	7	8	14	12	0	1	2	0	1	1	1	1	2	1	2	2	4	2	6	2	4	1	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr11:65386388G>A	ENST00000355703.3	+	6	2094	c.1555G>A	c.(1555-1557)Gct>Act	p.A519T		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	519						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCCCCCACTGGCTGGCTGCAA	0.647																																					p.A519T													.	PCNXL3	140		0			c.G1555A												17	20	19					11																	65386388		2005	4173	6178	SO:0001583	missense	399909	exon6			CCACTGGCTGGCT	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.1555G>A	11.37:g.65386388G>A	ENSP00000347931:p.Ala519Thr		32	0	0		24	0.08	2	NM_032223	53	0	0	Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	5.924	0.354625	0.11239	.	.	ENSG00000197136	ENST00000355703	T	0.05258	3.47	5.4	5.4	0.78164	.	0.000000	0.39909	N	0.001236	T	0.02970	0.0088	N	0.03608	-0.345	0.34784	D	0.735006	B	0.17852	0.024	B	0.10450	0.005	T	0.23547	-1.0185	10	0.05959	T	0.93	.	14.6935	0.69103	0.0:0.0:1.0:0.0	.	519	Q9H6A9	PCX3_HUMAN	T	519	ENSP00000347931:A519T	ENSP00000347931:A519T	A	+	1	0	PCNXL3	65142964	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.613000	0.61176	2.536000	0.85505	0.561000	0.74099	GCT			0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390321.1		NM_032223		A	65386388	G	A	65386388	3	1	109	1	0	0	0	0	1	0	0	0	11610	1203	42	2	1577	2	PCNXL3	11	65386388	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	47922005	65386388	69620128	45	8159											
SORL1	6653	mdanderson.org	37	chr11	121475015	121475015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactgctcggacgagagcGatgaaaaggcctgcagtggt	10	7	16	8	3	0	2	0	1	0	1	1	6	0	4	1	4	3	2	1	4	2	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr11:121475015G>T	ENST00000260197.7	+	33	4762	c.4633G>T	c.(4633-4635)Gat>Tat	p.D1545Y	SORL1_ENST00000532694.1_Missense_Mutation_p.D391Y|SORL1_ENST00000527934.1_Missense_Mutation_p.D160Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D489Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D455Y	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1545	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		GGACGAGAGCGATGAAAAGGC	0.657																																					p.D1545Y													.	SORL1	218		0			c.G4633T												62	57	58					11																	121475015		2203	4299	6502	SO:0001583	missense	6653	exon33			GAGAGCGATGAAA	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.4633G>T	11.37:g.121475015G>T	ENSP00000260197:p.Asp1545Tyr		42	0	0		44	0.07	3	NM_003105	37	0	0	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496185	0.64186	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.99232	-5.6;-5.6;-5.6;-5.6;-5.6	5.35	5.35	0.76521	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.056704	0.64402	D	0.000002	D	0.99711	0.9889	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97181	0.9851	10	0.87932	D	0	.	18.6752	0.91526	0.0:0.0:1.0:0.0	.	160;1545	E9PKB0;Q92673	.;SORL_HUMAN	Y	1545;489;391;455;160	ENSP00000260197:D1545Y;ENSP00000434634:D489Y;ENSP00000432131:D391Y;ENSP00000436447:D455Y;ENSP00000435405:D160Y	ENSP00000260197:D1545Y	D	+	1	0	SORL1	120980225	1.000000	0.71417	0.529000	0.27951	0.272000	0.26649	9.084000	0.94076	2.510000	0.84645	0.655000	0.94253	GAT			0.657	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387626.2		NM_003105		T	121475015	G	T	121475015	3	4	109	1	0	0	0	0	1	0	0	0	14957	1058	37	1	4763	1	SORL1	11	121475015	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	56088627	121475015	13531501	46	8160											
EMG1	10162	broad.mit.edu;mdanderson.org	37	chr12	7084421	7084421	+	IGR	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atccagtatcagatcactttCcagttggatgtatgaaagtt	12	14	8	7	0	2	2	2	1	0	1	4	3	4	3	2	1	0	4	2	1	3	5			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr12:7084421C>G	ENST00000261407.4	-	0	2268				EMG1_ENST00000261406.6_Missense_Mutation_p.P167A|LPCAT3_ENST00000535021.1_5'Flank|EMG1_ENST00000546220.1_3'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGATCACTTTCCAGTTGGATG	0.433																																					.													.	.			0			.												93	88	90					12																	7084421		1936	4144	6080	SO:0001628	intergenic_variant	10436	.			CACTTTCCAGTTG	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7084421C>G			124	0.0080645161	1		307	0.08	24	.	2244	0.09	199	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	RNA	SNP	ENST00000261407.4	37	CCDS8572.1																																																																																					0.433	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401812.1		NM_005768		G	7084421	C	G	7084421	1	3	109	0	1	0	0	0	0	0	0	0	5097	855	30	5		5	EMG1	12	7084421	IGR	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10		7084421	126767474	47	8161											
MRPS35	60488	broad.mit.edu;mdanderson.org	37	chr12	27863860	27863860	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctccactgccgtctactcGgccactccggtcccgacacc	5	9	7	20	4	2	0	0	0	2	0	6	1	4	0	6	2	2	0	6	2	1	2	rs145435105	byFrequency	TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr12:27863860G>T	ENST00000081029.3	+	1	155	c.84G>T	c.(82-84)tcG>tcT	p.S28S	RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA|MRPS35_ENST00000538315.1_Silent_p.S28S|RP11-1060J15.7_ENST00000538640.1_lincRNA	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCGTCTACTCGGCCACTCCGG	0.642																																					p.S28S													.	MRPS35	26		0			c.G84T							G	,	2,4404	4.2+/-10.8	0,2,2201	62	49	53		84,84	2.1	0	12	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MRPS35	NM_001190864.1,NM_021821.3	,	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	,	28/195,28/324	27863860	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	60488	exon1			CTACTCGGCCACT	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"Mitochondrial ribosomal proteins / small subunits"	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.84G>T	12.37:g.27863860G>T			61	0	0		95	0.04	4	NM_001190864	729	0	0	B2RDZ7|Q96Q21	Silent	SNP	ENST00000081029.3	37	CCDS8714.1																																																																																					0.642	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402897.1		NM_021821		T	27863860	G	T	27863860	2	4	109	1	0	0	0	0	0	0	0	1	9860	1103	39	1		1	MRPS35	12	27863860	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	20779439	27863860	105988035	48	8162											
HOXC10	3226	broad.mit.edu	37	chr12	54379332	54379332	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgttggcaggccgctgTcctcctgctcctacccacct	5	10	8	18	1	0	0	0	0	0	0	3	0	3	0	7	2	3	4	7	2	2	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr12:54379332T>C	ENST00000303460.4	+	1	363	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	HOXC-AS3_ENST00000567780.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	97					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CAGGCCGCTGTCCTCCTGCTC	0.617																																					p.S97P													.	HOXC10	42		0			c.T289C												52	53	53					12																	54379332		2203	4300	6503	SO:0001583	missense	3226	exon1			CCGCTGTCCTCCT		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"Homeoboxes / ANTP class : HOXL subclass"	5122	protein-coding gene	gene with protein product		605560	"homeo box C10"	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.289T>C	12.37:g.54379332T>C	ENSP00000307321:p.Ser97Pro		72	0	0		69	0.06	4	NM_017409	1	0	0	O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	T	1.393	-0.580176	0.03854	.	.	ENSG00000180818	ENST00000303460	T	0.22539	1.95	4.46	4.46	0.54185	.	0.123075	0.56097	D	0.000023	T	0.07188	0.0182	N	0.03930	-0.32	0.40560	D	0.981208	B	0.02656	0.0	B	0.04013	0.001	T	0.19063	-1.0317	10	0.02654	T	1	.	8.4167	0.32676	0.0:0.0953:0.0:0.9047	.	97	Q9NYD6	HXC10_HUMAN	P	97	ENSP00000307321:S97P	ENSP00000307321:S97P	S	+	1	0	HOXC10	52665599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.385000	0.44371	1.796000	0.52611	0.413000	0.27773	TCC			0.617	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358952.2				C	54379332	T	C	54379332	3	2	109	1	0	0	0	0	1	0	0	0	7324	1667	58	4	291	4	HOXC10	12	54379332	Missense_Mutation	SNP	T	TCGA-XE-A8H1-01A-11D-A435-10	26515472	54379332	79472563	49	8163											
RNF10	9921	mdanderson.org	37	chr12	120972700	120972700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctcctccgcctcttcggGcagcagcaaagggcaacagc	9	5	11	16	2	1	0	0	0	1	0	4	0	3	0	3	2	5	5	3	2	2	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr12:120972700G>A	ENST00000325954.4	+	1	547	c.86G>A	c.(85-87)gGc>gAc	p.G29D	RNF10_ENST00000413266.2_Missense_Mutation_p.G29D	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	29	Ser-rich.				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)					GCCTCTTCGGGCAGCAGCAAA	0.716																																					p.G29D													.	RNF10	75		0			c.G86A												15	21	19					12																	120972700		2191	4278	6469	SO:0001583	missense	9921	exon1			CTTCGGGCAGCAG	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.86G>A	12.37:g.120972700G>A	ENSP00000322242:p.Gly29Asp		24	0	0		21	0.1	2	NM_014868	244	0	0	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405070	0.62288	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266	D;D	0.89270	-2.49;-2.49	5.08	4.19	0.49359	.	0.355860	0.23914	N	0.043319	D	0.86033	0.5836	L	0.38175	1.15	0.33463	D	0.58521	D	0.61080	0.989	P	0.49665	0.618	D	0.86438	0.1765	10	0.20519	T	0.43	.	12.8936	0.58087	0.0:0.1639:0.8361:0.0	.	29	Q8N5U6	RNF10_HUMAN	D	29	ENSP00000322242:G29D;ENSP00000415682:G29D	ENSP00000322242:G29D	G	+	2	0	RNF10	119457083	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	2.208000	0.42797	1.362000	0.46000	0.561000	0.74099	GGC			0.716	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000401898.4				A	120972700	G	A	120972700	3	1	109	1	0	0	0	0	1	0	0	0	13445	1203	42	2	88	2	RNF10	12	120972700	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	66593368	120972700	12879195	50	8164											
CDK8	1024	mdanderson.org	37	chr13	26956976	26956976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctaatattttagttatggGtgaaggtcctgagcgaggaa	11	13	13	4	1	0	2	0	2	0	0	1	4	1	3	1	3	2	2	1	3	6	5	rs267603792		TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr13:26956976G>T	ENST00000381527.3	+	5	985	c.482G>T	c.(481-483)gGt>gTt	p.G161V	CDK8_ENST00000536792.1_Intron	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTAGTTATGGGTGAAGGTCCT	0.333																																					p.G161V													.	CDK8	61		0			c.G482T												104	107	106					13																	26956976		2203	4300	6503	SO:0001583	missense	1024	exon5			TTATGGGTGAAGG	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.482G>T	13.37:g.26956976G>T	ENSP00000370938:p.Gly161Val		55	0	0		52	0.06	3	NM_001260	19	0	0	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721995	0.89298	.	.	ENSG00000132964	ENST00000381527	T	0.69685	-0.42	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);	0.086147	0.85682	D	0.000000	T	0.81098	0.4752	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80801	-0.1220	10	0.87932	D	0	-11.2088	20.5827	0.99408	0.0:0.0:1.0:0.0	.	161;161	P49336-2;P49336	.;CDK8_HUMAN	V	161	ENSP00000370938:G161V	ENSP00000370938:G161V	G	+	2	0	CDK8	25854976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.142000	0.94618	2.941000	0.99782	0.655000	0.94253	GGT			0.333	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044250.1				T	26956976	G	T	26956976	3	4	109	1	0	0	0	0	1	0	0	0	3152	1261	44	3	500	3	CDK8	13	26956976	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		26956976	88212902	51	8165											
PCK2	5106	mdanderson.org	37	chr14	24567817	24567817	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccgactggggacacctgtGcttcaggccctgggagatgg	7	7	15	12	1	1	1	1	0	0	1	1	4	1	2	3	5	1	1	3	5	0	1	rs373177664		TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr14:24567817G>T	ENST00000216780.4	+	4	862	c.594G>T	c.(592-594)gtG>gtT	p.V198V	PCK2_ENST00000396973.4_Silent_p.V198V|PCK2_ENST00000545054.2_Silent_p.V64V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Silent_p.V210V|PCK2_ENST00000561286.1_Silent_p.V64V|PCK2_ENST00000558096.1_Silent_p.V64V	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	198					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)		GGACACCTGTGCTTCAGGCCC	0.612																																					p.V198V													.	PCK2	66		0			c.G594T												75	57	63					14																	24567817		2203	4300	6503	SO:0001819	synonymous_variant	5106	exon4			ACCTGTGCTTCAG	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.594G>T	14.37:g.24567817G>T			57	0	0		52	0.06	3	NM_004563	80	0	0	O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	CCDS9609.1																																																																																					0.612	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071900.3		NM_001018073		T	24567817	G	T	24567817	2	4	109	1	0	0	0	0	0	0	0	1	11599	1306	46	2		2	PCK2	14	24567817	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		24567817	82781723	52	8166											
TGM1	7051	mdanderson.org	37	chr14	24724426	24724426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgctgccgtgggctgctGctgtctctactgccttccgc	1	14	12	14	2	1	0	0	0	1	0	3	0	2	0	3	1	6	5	3	1	1	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr14:24724426G>A	ENST00000206765.6	-	12	1802	c.1679C>T	c.(1678-1680)gCa>gTa	p.A560V	TGM1_ENST00000544573.1_Missense_Mutation_p.A118V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	560					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTGGGCTGCTGCTGTCTCTAC	0.622																																					p.A560V													.	TGM1	73		0			c.C1679T												69	62	64					14																	24724426		2203	4300	6503	SO:0001583	missense	7051	exon12			GCTGCTGCTGTCT	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1679C>T	14.37:g.24724426G>A	ENSP00000206765:p.Ala560Val		76	0	0		50	0.06	3	NM_000359	3	0	0	B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480117	0.84747	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	D;D	0.96168	-3.93;-3.93	4.95	4.04	0.47022	.	0.051097	0.85682	D	0.000000	D	0.97108	0.9055	M	0.76002	2.32	0.58432	D	0.999991	D	0.89917	1.0	D	0.71184	0.972	D	0.97470	1.0040	10	0.87932	D	0	-18.1514	13.5134	0.61526	0.0:0.0:0.8421:0.1579	.	560	P22735	TGM1_HUMAN	V	560;118	ENSP00000206765:A560V;ENSP00000439446:A118V	ENSP00000206765:A560V	A	-	2	0	TGM1	23794266	1.000000	0.71417	0.041000	0.18516	0.926000	0.56050	8.668000	0.91158	1.268000	0.44264	0.563000	0.77884	GCA			0.622	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000073160.6		NM_000359		A	24724426	G	A	24724426	3	1	109	1	0	0	0	0	1	0	0	0	15852	1319	46	2	790	2	TGM1	14	24724426	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	156609	24724426	82625114	53	8167											
ZFP36L1	677	mdanderson.org	37	chr14	69256669	69256669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcaaagctaaagctatGctggaggcggggacggtcag	11	5	15	10	2	1	0	1	0	0	0	1	2	1	2	1	5	4	4	1	5	4	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr14:69256669G>T	ENST00000439696.2	-	2	899	c.598C>A	c.(598-600)Cat>Aat	p.H200N	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.H200N	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	200					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTAAAGCTATGCTGGAGGCGG	0.687											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H269N													ZFP36L1,NS,carcinoma,+1,1	ZFP36L1	47	1	0			c.C805A												26	33	31					14																	69256669		2195	4283	6478	SO:0001583	missense	677	exon3			AGCTATGCTGGAG	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.598C>A	14.37:g.69256669G>T	ENSP00000388402:p.His200Asn		33	0	0	1113	31	0.1	3	NM_001244701	443	0	0	Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411194	0.83340	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086	T;T	0.34859	1.34;1.34	4.4	4.4	0.53042	.	0.134947	0.49305	U	0.000142	T	0.58736	0.2143	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.64236	-0.6455	10	0.72032	D	0.01	-0.7401	17.1573	0.86794	0.0:0.0:1.0:0.0	.	200	Q07352	TISB_HUMAN	N	200;200;183;206	ENSP00000388402:H200N;ENSP00000337386:H200N	ENSP00000337386:H200N	H	-	1	0	ZFP36L1	68326422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.553000	0.98118	2.264000	0.75181	0.585000	0.79938	CAT			0.687	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413227.1				T	69256669	G	T	69256669	3	4	109	1	0	0	0	0	1	0	0	0	17669	1319	46	2	422	2	ZFP36L1	14	69256669	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	44532243	69256669	38092871	54	8168											
FSIP1	161835	mdanderson.org	37	chr15	40034047	40034047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcatattcttctggaGggatttgagtatgaaacact	11	15	9	6	0	3	2	1	2	2	0	3	4	3	4	0	2	1	2	0	2	3	6			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr15:40034047G>T	ENST00000350221.3	-	6	823	c.614C>A	c.(613-615)cCt>cAt	p.P205H	FSIP1_ENST00000559692.1_5'UTR	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	205										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTCTTCTGGAGGGATTTGAGT	0.338																																					p.P205H													.	FSIP1	53		0			c.C614A												86	85	85					15																	40034047		2203	4298	6501	SO:0001583	missense	161835	exon6			TCTGGAGGGATTT	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.614C>A	15.37:g.40034047G>T	ENSP00000280236:p.Pro205His		50	0	0		47	0.06	3	NM_152597	3	0	0	Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920955	0.33908	.	.	ENSG00000150667	ENST00000350221	T	0.26810	1.71	5.55	4.63	0.57726	.	0.282695	0.26788	N	0.022482	T	0.47303	0.1438	M	0.76002	2.32	0.33545	D	0.595338	D	0.76494	0.999	D	0.68483	0.958	T	0.62737	-0.6791	9	.	.	.	-3.7918	10.5283	0.44963	0.0895:0.0:0.9105:0.0	.	205	Q8NA03	FSIP1_HUMAN	H	205	ENSP00000280236:P205H	.	P	-	2	0	FSIP1	37821339	1.000000	0.71417	0.775000	0.31657	0.011000	0.07611	2.181000	0.42547	1.334000	0.45468	-0.150000	0.13652	CCT			0.338	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252118.2		NM_152597		T	40034047	G	T	40034047	3	4	109	1	0	0	0	0	1	0	0	0	6087	1000	35	3	1159	3	FSIP1	15	40034047	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		40034047	62497345	55	8169											
ITGA11	22801	mdanderson.org	37	chr15	68628046	68628046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccattacctgctggccccGcatagcctggtggatggtga	6	10	12	13	1	0	1	0	1	0	0	1	2	1	2	5	4	3	2	5	4	2	2	rs571292268	byFrequency	TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr15:68628046G>A	ENST00000315757.7	-	12	1500	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	ITGA11_ENST00000423218.2_Missense_Mutation_p.R472W	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	472					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGCTGGCCCCGCATAGCCTGG	0.632													G|||	2	0.000399361	0	0	5008	,	,		19329	0		0	False		,,,				2504	0.002				p.R472W													.	ITGA11	110		0			c.C1414T												27	33	31					15																	68628046		2019	4176	6195	SO:0001583	missense	22801	exon12			GGCCCCGCATAGC	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1414C>T	15.37:g.68628046G>A	ENSP00000327290:p.Arg472Trp		91	0	0		62	0.05	3	NM_001004439	22	0	0	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324215	0.60634	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	T;T	0.11712	2.75;2.75	5.77	4.79	0.61399	.	0.202876	0.50627	D	0.000106	T	0.12263	0.0298	L	0.39147	1.195	0.22457	N	0.999087	P;D	0.56521	0.918;0.976	P;B	0.44860	0.462;0.394	T	0.10730	-1.0617	10	0.62326	D	0.03	.	13.2986	0.60311	0.0:0.0:0.7842:0.2157	.	472;472	A8K8T0;Q9UKX5	.;ITA11_HUMAN	W	472;472;107;472	ENSP00000327290:R472W;ENSP00000403392:R472W	ENSP00000327290:R472W	R	-	1	2	ITGA11	66415100	0.098000	0.21812	1.000000	0.80357	0.951000	0.60555	1.334000	0.33827	2.723000	0.93209	0.655000	0.94253	CGG			0.632	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				NM_012211		A	68628046	G	A	68628046	3	1	109	1	0	0	0	0	1	0	0	0	7889	1086	38	1	2228	1	ITGA11	15	68628046	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	28593999	68628046	33903346	56	8170											
ARIH1	25820	broad.mit.edu	37	chr15	72767235	72767235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggtggcgggccggg	0	3	28	10	9	0	0	0	0	0	0	0	0	0	0	1	13	0	0	1	13	0	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr15:72767235C>T	ENST00000379887.4	+	1	569	c.255C>T	c.(253-255)ggC>ggT	p.G85G	RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	85	Gly-rich.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						gcggcggcggcggtggtggtg	0.736																																					p.G85G													.	ARIH1	42		0			c.C255T												4	3	3					15																	72767235		1491	2998	4489	SO:0001819	synonymous_variant	25820	exon1			CGGCGGCGGTGGT	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.255C>T	15.37:g.72767235C>T			74	0.0135135135	1		61	0.1	6	NM_005744	1	0	0	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Silent	SNP	ENST00000379887.4	37	CCDS10244.1																																																																																					0.736	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257350.1		NM_005744		T	72767235	C	T	72767235	2	4	109	1	0	0	0	0	0	0	0	1	923	755	27	1		1	ARIH1	15	72767235	Silent	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	4139189	72767235	29764157	57	8171											
PML	5371	mdanderson.org	37	chr15	74327860	74327860	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggcccctattcggacttgGtctccccatgtggtccaagc	5	10	11	15	2	1	0	0	0	1	0	4	1	2	1	5	4	1	0	5	4	2	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr15:74327860G>A	ENST00000268058.3	+	7	1806				PML_ENST00000359928.4_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000569477.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Nonsense_Mutation_p.W638*|PML_ENST00000563500.1_3'UTR|PML_ENST00000268059.6_Nonsense_Mutation_p.W686*|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TTCGGACTTGGTCTCCCCATG	0.607			T	"RARA, PAX5"	"APL, ALL"																																p.W686X				Dom	yes		15	15q22	5371	promyelocytic leukemia		L	.	PML	169		0			c.G2058A												64	60	61					15																	74327860		2198	4297	6495	SO:0001627	intron_variant	5371	exon8			GACTTGGTCTCCC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+989G>A	15.37:g.74327860G>A			36	0	0		34	0.12	4	NM_033239	117	0.01	1	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Nonsense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065587	0.55539	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	2.99	-3.29	0.05017	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6539	0.22977	0.0:0.3915:0.4097:0.1988	.	.	.	.	X	686;638	.	ENSP00000268059:W686X	W	+	3	0	PML	72114913	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-3.886000	0.00342	-0.799000	0.04439	0.462000	0.41574	TGG			0.607	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269021.3		NM_002675		A	74327860	G	A	74327860	1	1	109	0	1	0	0	0	0	0	0	0	12152	1270	44	3		3	PML	15	74327860	Intron	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	1560625	74327860	28203532	58	8172											
PIGQ	9091	mdanderson.org	37	chr16	626214	626214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctccacgggagaagccGcatcgggcatctggccgacg	7	5	15	14	5	1	1	0	0	1	1	3	3	2	1	3	4	1	3	3	4	1	0	rs371210440		TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr16:626214G>A	ENST00000026218.5	+	4	990	c.902G>A	c.(901-903)cGc>cAc	p.R301H	PIGQ_ENST00000470411.2_3'UTR|PIGQ_ENST00000409527.2_Missense_Mutation_p.R301H|PIGQ_ENST00000321878.5_Missense_Mutation_p.R301H	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	301	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GGGAGAAGCCGCATCGGGCAT	0.706																																					p.R301H													.	PIGQ	43		0			c.G902A							G	HIS/ARG,HIS/ARG	0,4240		0,0,2120	25	22	23		902,902	1.8	0	16		23	1,8375		0,1,4187	no	missense,missense	PIGQ	NM_004204.3,NM_148920.1	29,29	0,1,6307	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging	301/582,301/761	626214	1,12615	2120	4188	6308	SO:0001583	missense	9091	exon4			GAAGCCGCATCGG	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.902G>A	16.37:g.626214G>A	ENSP00000026218:p.Arg301His		50	0	0		40	0.08	3	NM_148920	72	0	0	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	8.316	0.823223	0.16678	0.0	1.19E-4	ENSG00000007541	ENST00000409527;ENST00000422307;ENST00000321878;ENST00000026218	T;T;T;T	0.51574	0.88;0.7;0.88;2.17	5.22	1.81	0.25067	.	0.366105	0.32444	N	0.006082	T	0.30198	0.0757	L	0.29908	0.895	0.44531	D	0.997483	B;B;B	0.27791	0.083;0.189;0.01	B;B;B	0.21708	0.028;0.036;0.011	T	0.05750	-1.0866	10	0.51188	T	0.08	-10.208	6.3948	0.21607	0.2347:0.0:0.6386:0.1266	.	315;301;301	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	H	301	ENSP00000386760:R301H;ENSP00000413753:R301H;ENSP00000326674:R301H;ENSP00000026218:R301H	ENSP00000026218:R301H	R	+	2	0	PIGQ	566215	0.973000	0.33851	0.007000	0.13788	0.010000	0.07245	1.757000	0.38400	0.114000	0.18032	0.467000	0.42956	CGC			0.706	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000239270.2		NM_004204		A	626214	G	A	626214	3	1	109	1	0	0	0	0	1	0	0	0	11913	1087	38	1	912	1	PIGQ	16	626214	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		626214	89728539	59	8173											
NTHL1	7249	ucsc.edu;bcgsc.ca	37	chr16	2096364	2096364	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggctgtggcttttcctcGcttctgcaaaaagcaccacg	7	10	11	13	3	1	0	0	0	1	0	3	0	2	0	2	3	2	5	2	3	2	3	rs375615004		TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr16:2096364G>T	ENST00000219476.3	+	0	0				TSC2_ENST00000401874.2_5'Flank|TSC2_ENST00000439673.2_5'Flank|TSC2_ENST00000353929.4_5'Flank|TSC2_ENST00000382538.6_5'Flank|TSC2_ENST00000350773.4_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000568454.1_5'Flank|NTHL1_ENST00000219066.1_Missense_Mutation_p.A48E	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCTTTTCCTCGCTTCTGCAAA	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.A48E			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	.	NTHL1	24		0			c.C143A												55	58	57					16																	2096364		2198	4300	6498	SO:0001631	upstream_gene_variant	4913	exon2	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	TTCCTCGCTTCTG	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096364G>T	Exception_encountered		64	0	0		42	0.1	4	NM_002528	156	0	0	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	6.587	0.476730	0.12521	.	.	ENSG00000065057	ENST00000219066	T	0.13778	2.56	4.83	1.32	0.21799	.	1.098890	0.06898	N	0.805511	T	0.03827	0.0108	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40997	-0.9533	10	0.02654	T	1	-3.4561	3.0134	0.06052	0.0:0.402:0.2342:0.3638	.	48;48	E5KTI5;P78549	.;NTHL1_HUMAN	E	48	ENSP00000219066:A48E	ENSP00000219066:A48E	A	-	2	0	NTHL1	2036365	0.000000	0.05858	0.328000	0.25416	0.092000	0.18411	-0.549000	0.06041	0.462000	0.27095	-0.270000	0.10280	GCG			0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250657.2		NM_000548		T	2096364	G	T	2096364	1	4	109	0	1	0	0	0	0	0	0	0	10715	1087	38	1		1	NTHL1	16	2096364	5'Flank	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	1470150	2096364	88258389	60	8174											
CREBBP	1387	mdanderson.org	37	chr16	3778522	3778522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgttggggttgtgtcctgGgttcatgatgttcaaggcct	5	15	14	7	0	2	1	2	1	0	0	3	1	3	1	2	4	0	4	2	4	1	4			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr16:3778522G>T	ENST00000262367.5	-	31	7335	c.6526C>A	c.(6526-6528)Cca>Aca	p.P2176T	CREBBP_ENST00000382070.3_Missense_Mutation_p.P2138T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2176					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)		TTGTGTCCTGGGTTCATGATG	0.607			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.P2176T				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546		0			c.C6526A												106	84	91					16																	3778522		2197	4300	6497	SO:0001583	missense	1387	exon31			GTCCTGGGTTCAT	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.6526C>A	16.37:g.3778522G>T	ENSP00000262367:p.Pro2176Thr		65	0	0		47	0.06	3	NM_004380	222	0	0	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	5.785	0.329159	0.10956	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.82893	-1.66;-1.57	5.28	2.01	0.26516	.	0.352376	0.27406	N	0.019507	T	0.63896	0.2550	N	0.19112	0.55	0.50632	D	0.999886	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50825	-0.8782	10	0.13470	T	0.59	-6.6227	4.8306	0.13437	0.0761:0.1101:0.4679:0.3459	.	2206;2176	Q4LE28;Q92793	.;CBP_HUMAN	T	2176;2206;2138;711	ENSP00000262367:P2176T;ENSP00000371502:P2138T	ENSP00000262367:P2176T	P	-	1	0	CREBBP	3718523	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.010000	0.29898	1.202000	0.43218	0.655000	0.94253	CCA			0.607	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251591.2		NM_004380		T	3778522	G	T	3778522	3	4	109	1	0	0	0	0	1	0	0	0	3863	1232	43	3	806	3	CREBBP	16	3778522	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	1682158	3778522	86576231	61	8175											
KIFC3	3801	mdanderson.org	37	chr16	57803627	57803627	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcaaggtcagcaagttGgtccggacgcctatggggac	8	7	16	10	2	1	0	1	0	0	0	2	2	2	2	2	6	2	4	2	6	3	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr16:57803627G>T	ENST00000379655.4	-	9	1355	c.1098C>A	c.(1096-1098)acC>acA	p.T366T	KIFC3_ENST00000465878.2_Silent_p.T227T|KIFC3_ENST00000540079.2_Silent_p.T264T|KIFC3_ENST00000539578.1_Silent_p.T308T|KIFC3_ENST00000562903.1_Silent_p.T227T|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000421376.2_Silent_p.T227T|KIFC3_ENST00000445690.2_Silent_p.T366T|KIFC3_ENST00000541240.1_Silent_p.T388T|KIFC3_ENST00000543930.1_Silent_p.T227T	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	366					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCAGCAAGTTGGTCCGGACGC	0.682																																					p.T366T													.	KIFC3	55		0			c.C1098A												35	34	34					16																	57803627		2198	4300	6498	SO:0001819	synonymous_variant	3801	exon9			CAAGTTGGTCCGG	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1098C>A	16.37:g.57803627G>T			51	0	0		47	0.06	3	NM_005550	51	0	0	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	CCDS10789.2																																																																																					0.682	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257329.2		NM_005550		T	57803627	G	T	57803627	2	4	109	1	0	0	0	0	0	0	0	1	8329	1335	47	3		3	KIFC3	16	57803627	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	54025105	57803627	32551126	62	8176											
TCF25	22980	broad.mit.edu	37	chr16	89940142	89940142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcccctcgggcccggcGccttgcatttcgatctccgt	4	9	12	16	5	1	0	0	0	1	0	4	2	1	1	5	3	2	1	5	3	0	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr16:89940142G>T	ENST00000263346.8	+	1	123	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S		NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	23					heart development (GO:0007507)|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)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CGGGCCCGGCGCCTTGCATTT	0.697																																					p.A23S													.	TCF25	61		0			c.G67T												15	21	19					16																	89940142		2187	4288	6475	SO:0001583	missense	22980	exon1			CCCGGCGCCTTGC	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.67G>T	16.37:g.89940142G>T	ENSP00000263346:p.Ala23Ser		72	0.0138888889	1		71	0.08	6	NM_014972	150	0.01	2	Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	g	19.19	3.780277	0.70222	.	.	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	4.67	3.72	0.42706	.	0.423635	0.25264	N	0.031930	T	0.36635	0.0974	N	0.08118	0	0.80722	D	1	D;P	0.57571	0.98;0.904	P;P	0.54270	0.747;0.502	T	0.11792	-1.0573	9	0.29301	T	0.29	.	9.8732	0.41187	0.0966:0.0:0.9034:0.0	.	23;23	B4DVF2;Q9BQ70	.;TCF25_HUMAN	S	23	.	ENSP00000263346:A23S	A	+	1	0	TCF25	88467643	0.999000	0.42202	0.900000	0.35374	0.531000	0.34715	3.236000	0.51336	1.212000	0.43366	0.457000	0.33378	GCC			0.697	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272875.2		NM_014972		T	89940142	G	T	89940142	3	4	109	1	0	0	0	0	1	0	0	0	15716	1087	38	1	69	1	TCF25	16	89940142	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	32136515	89940142	414611	63	8177											
TMEM132E	124842	mdanderson.org	37	chr17	32964437	32964437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaagagtgtgctcgccaCgacccctgtgggcctgcggg	6	6	15	14	4	0	1	0	0	0	1	1	2	0	1	4	2	2	2	4	2	1	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr17:32964437C>T	ENST00000321639.5	+	10	2469	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	714						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTGCTCGCCACGACCCCTGTG	0.667																																					p.T714M													.	TMEM132E	122		0			c.C2141T												38	43	41					17																	32964437		2203	4299	6502	SO:0001583	missense	124842	exon10			TCGCCACGACCCC	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2141C>T	17.37:g.32964437C>T	ENSP00000316532:p.Thr714Met		65	0	0		48	0.06	3	NM_207313	0		0	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068791	0.76301	.	.	ENSG00000181291	ENST00000321639	T	0.18657	2.2	4.65	4.65	0.58169	.	0.184371	0.48286	D	0.000193	T	0.34164	0.0888	L	0.37630	1.12	0.36382	D	0.862007	D	0.89917	1.0	D	0.63113	0.911	T	0.31641	-0.9936	10	0.49607	T	0.09	-19.0289	16.2872	0.82727	0.0:1.0:0.0:0.0	.	714	Q6IEE7	T132E_HUMAN	M	714	ENSP00000316532:T714M	ENSP00000316532:T714M	T	+	2	0	TMEM132E	29988550	0.996000	0.38824	0.444000	0.26895	0.847000	0.48162	3.813000	0.55636	2.412000	0.81896	0.549000	0.68633	ACG			0.667	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256440.2		NM_207313		T	32964437	C	T	32964437	3	4	109	1	0	0	0	0	1	0	0	0	16071	536	19	1	2179	1	TMEM132E	17	32964437	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10		32964437	48230773	64	8178											
KRT26	353288	broad.mit.edu	37	chr17	38925171	38925171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcaataaatgtcaatttCtttttctaaaaatattttta	14	20	3	4	0	3	0	1	0	2	0	3	0	3	0	0	0	1	2	0	0	9	10			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr17:38925171C>T	ENST00000335552.4	-	6	1195	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ATGTCAATTTCTTTTTCTAAA	0.343																																					p.E383K													.	KRT26	49		0			c.G1147A												44	45	45					17																	38925171		2202	4299	6501	SO:0001583	missense	353288	exon6			CAATTTCTTTTTC	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"-", "Intermediate filaments type I, keratins (acidic)"	30840	protein-coding gene	gene with protein product			"keratin 25B"	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.1147G>A	17.37:g.38925171C>T	ENSP00000334798:p.Glu383Lys		111	0.0720720721	8		95	0.16	15	NM_181539	0		0		Missense_Mutation	SNP	ENST00000335552.4	37	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548809	0.86127	.	.	ENSG00000186393	ENST00000335552	D	0.96774	-4.12	5.26	5.26	0.73747	Filament (1);	0.000000	0.56097	D	0.000023	D	0.99102	0.9691	H	0.99211	4.47	0.45791	D	0.998674	D	0.89917	1.0	D	0.97110	1.0	D	0.98928	1.0786	10	0.87932	D	0	.	18.822	0.92100	0.0:1.0:0.0:0.0	.	383	Q7Z3Y9	K1C26_HUMAN	K	383	ENSP00000334798:E383K	ENSP00000334798:E383K	E	-	1	0	KRT26	36178697	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.105000	0.71505	2.608000	0.88229	0.655000	0.94253	GAA			0.343	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257215.1		NM_181539		T	38925171	C	T	38925171	3	4	109	1	0	0	0	0	1	0	0	0	8478	922	32	3	271	3	KRT26	17	38925171	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	5960734	38925171	42270039	65	8179											
BRCA1	672	hgsc.bcm.edu;bcgsc.ca	37	chr17	41234509	41234509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtagctgttagaaggctgGctcccatgctgttctaacac	8	11	12	10	0	1	1	0	0	1	1	2	1	2	1	1	3	3	7	1	3	4	4			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr17:41234509G>T	ENST00000357654.3	-	12	4387	c.4269C>A	c.(4267-4269)agC>agA	p.S1423R	BRCA1_ENST00000471181.2_Missense_Mutation_p.S1423R|BRCA1_ENST00000468300.1_Missense_Mutation_p.S320R|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.S1127R|BRCA1_ENST00000493795.1_Missense_Mutation_p.S1376R|BRCA1_ENST00000346315.3_Missense_Mutation_p.S1423R|BRCA1_ENST00000491747.2_Missense_Mutation_p.S320R|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.S240R|BRCA1_ENST00000352993.3_Missense_Mutation_p.S281R|BRCA1_ENST00000354071.3_Missense_Mutation_p.S1423R	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1423	Interaction with PALB2.				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.S1423R(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)		TAGAAGGCTGGCTCCCATGCT	0.443			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.S1423R			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	BRCA1,NS,carcinoma,0,1	BRCA1	0	1	1	Substitution - Missense(1)	lung(1)	c.C4269A												201	172	182					17																	41234509		2203	4300	6503	SO:0001583	missense	672	exon12	Familial Cancer Database		AGGCTGGCTCCCA	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.4269C>A	17.37:g.41234509G>T	ENSP00000350283:p.Ser1423Arg		112	0	0		115	0.05	6	NM_007300	82	0	0	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.815357|3.815357	0.70912|0.70912	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000461574|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.62788	.|0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.5|5.5	4.47|4.47	0.54385|0.54385	.|.	.|0.184440	.|0.38959	.|N	.|0.001519	T|T	0.66597|0.66597	0.2805|0.2805	L|L	0.34521|0.34521	1.04|1.04	0.32968|0.32968	D|D	0.521921|0.521921	.|D;D;D;D;D;D;P;D	.|0.71674	.|0.995;0.998;0.986;0.995;0.986;0.995;0.454;0.997	.|P;D;P;D;P;P;B;D	.|0.75484	.|0.843;0.986;0.796;0.933;0.796;0.873;0.105;0.956	T|T	0.72507|0.72507	-0.4272|-0.4272	5|10	.|0.87932	.|D	.|0	.|.	9.1374|9.1374	0.36883|0.36883	0.1341:0.0:0.8659:0.0|0.1341:0.0:0.8659:0.0	.|.	.|319;273;319;320;320;1423;1423;1423	.|E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.|.;.;.;.;.;.;BRCA1_HUMAN;.	D|R	188|1423;1423;1423;281;1423;240;1127;320;273;1423;1376;319;319;194;273;195	.|ENSP00000350283:S1423R;ENSP00000326002:S1423R;ENSP00000312236:S281R;ENSP00000246907:S1423R;ENSP00000338007:S240R;ENSP00000310938:S1127R;ENSP00000417148:S320R;ENSP00000377294:S273R;ENSP00000418960:S1423R;ENSP00000418775:S1376R;ENSP00000420412:S319R;ENSP00000419481:S194R;ENSP00000418819:S273R;ENSP00000418212:S195R	.|ENSP00000310938:S1127R	A|S	-|-	2|3	0|2	BRCA1|BRCA1	38488035|38488035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	1.459000|1.459000	0.35234|0.35234	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCC|AGC			0.443	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348798.2		NM_007294		T	41234509	G	T	41234509	3	4	109	1	0	0	0	0	1	0	0	0	1500	1194	42	2	1440	2	BRCA1	17	41234509	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	2309338	41234509	39960701	66	8180											
TLK2	11011	broad.mit.edu	37	chr17	60637441	60637441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctagagaaatacaaggaacGattaaatagatgtgtgacaa	19	8	10	4	1	0	3	0	1	0	2	0	6	0	4	0	1	2	1	0	1	9	4			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr17:60637441G>A	ENST00000326270.9	+	10	1053	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	TLK2_ENST00000542523.1_Missense_Mutation_p.R230Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R230Q|TLK2_ENST00000582809.1_Missense_Mutation_p.R113Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R262Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	262			R -> Q. {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R262Q(17)|p.R261Q(9)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TACAAGGAACGATTAAATAGA	0.358																																					p.R262Q													TLK2_ENST00000346027,NS,carcinoma,0,31	TLK2	223	31	26	Substitution - Missense(26)	endometrium(15)|kidney(9)|central_nervous_system(2)	c.G785A												72	74	73					17																	60637441		2203	4298	6501	SO:0001583	missense	11011	exon10			AGGAACGATTAAA	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.785G>A	17.37:g.60637441G>A	ENSP00000316512:p.Arg262Gln		500	0	0		457	0.02	7	NM_006852	43	0	0	D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37		.	.	.	.	.	.	.	.	.	.	G	17.31	3.356600	0.61293	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66460	-0.16;-0.21;-0.13;-0.21	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	N	0.26092	0.79	0.80722	D	1	D;B;B;B	0.89917	1.0;0.369;0.031;0.135	D;B;B;B	0.85130	0.997;0.074;0.016;0.012	T	0.64896	-0.6299	10	0.17369	T	0.5	.	16.8221	0.85835	0.0:0.0:1.0:0.0	.	262;230;262;262	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	262;230;262;230	ENSP00000275780:R262Q;ENSP00000340800:R230Q;ENSP00000316512:R262Q;ENSP00000442311:R230Q	ENSP00000316512:R262Q	R	+	2	0	TLK2	57991173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.504000	0.97986	2.516000	0.84829	0.655000	0.94253	CGA			0.358	TLK2-004	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000445140.1		NM_006852		A	60637441	G	A	60637441	3	1	109	1	0	0	0	0	1	0	0	0	15967	1058	37	1	819	1	TLK2	17	60637441	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	19402932	60637441	20557769	67	8181											
SMCHD1	23347	mdanderson.org	37	chr18	2724961	2724961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaattcgaggtgttacaGccaagggccctgtaaactct	10	11	11	9	1	1	0	0	0	1	0	2	1	1	0	2	2	3	3	2	2	5	4			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr18:2724961G>T	ENST00000320876.6	+	21	3006	c.2668G>T	c.(2668-2670)Gcc>Tcc	p.A890S	SMCHD1_ENST00000261598.8_Missense_Mutation_p.A890S|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	890					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						AGGTGTTACAGCCAAGGGCCC	0.323																																					p.A890S													.	SMCHD1	88		0			c.G2668T												65	61	62					18																	2724961		1827	4070	5897	SO:0001583	missense	23347	exon21			GTTACAGCCAAGG	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.2668G>T	18.37:g.2724961G>T	ENSP00000326603:p.Ala890Ser		87	0	0		67	0.06	4	NM_015295	26	0	0	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588703	0.46110	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.35789	1.29;1.31	5.6	5.6	0.85130	.	0.057631	0.64402	D	0.000002	T	0.42743	0.1216	L	0.36672	1.1	0.38945	D	0.958235	D	0.56521	0.976	P	0.50049	0.629	T	0.41998	-0.9477	10	0.72032	D	0.01	-16.7004	19.6107	0.95606	0.0:0.0:1.0:0.0	.	890	A6NHR9	SMHD1_HUMAN	S	890	ENSP00000326603:A890S;ENSP00000261598:A890S	ENSP00000261598:A890S	A	+	1	0	SMCHD1	2714961	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	6.968000	0.76086	2.648000	0.89879	0.655000	0.94253	GCC			0.323	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441082.2				T	2724961	G	T	2724961	3	4	109	1	0	0	0	0	1	0	0	0	14811	971	34	2	2750	2	SMCHD1	18	2724961	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		2724961	75352287	68	8182											
LRG1	116844	mdanderson.org	37	chr19	4538737	4538737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttagaggcgccctggaggaGgttggctggcaggtgggtca	6	8	19	8	1	1	1	1	0	0	1	1	3	1	3	1	8	0	3	1	8	1	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:4538737G>T	ENST00000306390.6	-	2	719	c.259C>A	c.(259-261)Ctc>Atc	p.L87I	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	87					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		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)		CCCTGGAGGAGGTTGGCTGGC	0.622																																					p.L87I													.	LRG1	25		0			c.C259A												43	40	41					19																	4538737		2203	4300	6503	SO:0001583	missense	116844	exon2			GGAGGAGGTTGGC		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.259C>A	19.37:g.4538737G>T	ENSP00000302621:p.Leu87Ile		59	0	0		52	0.06	3	NM_052972	6	0	0	Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	0.946	-0.707955	0.03230	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02606	4.23	4.71	-9.41	0.00613	.	2.324040	0.01962	N	0.043457	T	0.01189	0.0039	N	0.04724	-0.175	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46952	-0.9154	10	0.22706	T	0.39	-0.0293	0.0448	0.00010	0.3023:0.176:0.2036:0.3181	.	87	P02750	A2GL_HUMAN	I	87	ENSP00000302621:L87I	ENSP00000302621:L87I	L	-	1	0	LRG1	4489737	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.558000	0.05978	-2.917000	0.00306	-2.210000	0.00300	CTC			0.622	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458654.2		NM_052972		T	4538737	G	T	4538737	3	4	109	1	0	0	0	0	1	0	0	0	8958	1000	35	3	788	3	LRG1	19	4538737	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		4538737	54590246	69	8183											
KHSRP	8570	mdanderson.org	37	chr19	6417053	6417053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgctcgcacctgtctGggggccccattatatgagca	6	10	12	13	2	1	1	0	1	1	0	2	1	1	1	3	2	3	3	3	2	2	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:6417053G>T	ENST00000398148.3	-	12	1219	c.1127C>A	c.(1126-1128)cCa>cAa	p.P376Q	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	376	Gly-rich.|KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GCACCTGTCTGGGGGCCCCAT	0.627																																					p.P376Q	Colon(55;593 1006 2067 9135 22980)												.	KHSRP	51		0			c.C1127A												57	64	62					19																	6417053		1926	4148	6074	SO:0001583	missense	8570	exon12			CTGTCTGGGGGCC	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1127C>A	19.37:g.6417053G>T	ENSP00000381216:p.Pro376Gln		51	0	0		36	0.08	3	NM_003685	1844	0	1	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541256	0.85917	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.35236	1.32	5.53	5.53	0.82687	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.052077	0.85682	D	0.000000	T	0.54967	0.1891	L	0.48986	1.54	0.58432	D	0.999999	P	0.38129	0.619	P	0.57679	0.825	T	0.48352	-0.9043	10	0.45353	T	0.12	.	18.2323	0.89937	0.0:0.0:1.0:0.0	.	376	Q92945	FUBP2_HUMAN	Q	376;376;332	ENSP00000381216:P376Q	ENSP00000201886:P376Q	P	-	2	0	KHSRP	6368053	1.000000	0.71417	0.970000	0.41538	0.979000	0.70002	7.751000	0.85126	2.587000	0.87381	0.655000	0.94253	CCA			0.627	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453305.1				T	6417053	G	T	6417053	3	4	109	1	0	0	0	0	1	0	0	0	8166	1348	47	3	1044	3	KHSRP	19	6417053	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	1878316	6417053	52711930	70	8184											
KRI1	84971	mdanderson.org	37	chr19	10665783	10665783	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctcggcagagtgacttGaagacctgccgctttttcca	7	13	9	12	2	2	4	0	2	2	2	4	4	3	4	3	1	1	2	3	1	1	4			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:10665783G>C	ENST00000309469.4	+	0	1949				KRI1_ENST00000361821.5_Missense_Mutation_p.F589L|MIR1238_ENST00000408483.1_RNA|KRI1_ENST00000312962.6_Missense_Mutation_p.F593L	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGAGTGACTTGAAGACCTGCC	0.602																																					p.F593L													.	KRI1	65		0			c.C1779G												71	68	69					19																	10665783		2203	4300	6503	SO:0001628	intergenic_variant	65095	exon18			TGACTTGAAGACC	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10665783G>C			93	0	0		57	0.05	3	NM_023008	181	0	0	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	5.172	0.217234	0.09810	.	.	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.08720	3.24;3.06	5.12	-0.158	0.13383	Kri1-like, C-terminal (1);	0.136644	0.50627	D	0.000110	T	0.01870	0.0059	N	0.01352	-0.895	0.41529	D	0.988442	B;B	0.18310	0.014;0.027	B;B	0.23150	0.024;0.044	T	0.44907	-0.9297	10	0.18710	T	0.47	-26.0824	0.2569	0.00213	0.263:0.1964:0.2987:0.2418	.	593;589	Q8N9T8;D3YTE0	KRI1_HUMAN;.	L	593;589	ENSP00000320917:F593L;ENSP00000355366:F589L	ENSP00000320917:F593L	F	-	3	2	KRI1	10526783	0.763000	0.28462	1.000000	0.80357	0.895000	0.52256	0.069000	0.14552	0.565000	0.29255	0.563000	0.77884	TTC			0.602	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452022.1		NM_032885		C	10665783	G	C	10665783	1	2	109	0	1	0	0	0	0	0	0	0	8459	1281	45	5		5	KRI1	19	10665783	IGR	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	4248730	10665783	48463200	71	8185											
KANK2	25959	broad.mit.edu	37	chr19	11304551	11304551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggggcagcgagctcaggcGggggcggcgctgcactgcca	6	3	19	13	5	1	0	1	0	0	0	1	1	1	0	1	6	4	4	1	6	0	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:11304551G>T	ENST00000586659.1	-	4	519	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	KANK2_ENST00000589359.1_Missense_Mutation_p.R69S|KANK2_ENST00000589894.1_Missense_Mutation_p.R69S|KANK2_ENST00000432929.2_Missense_Mutation_p.R69S|KANK2_ENST00000355150.5_Missense_Mutation_p.R69S			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	69	Interaction with AIFM1.				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						GAGCTCAGGCGGGGGCGGCGC	0.662																																					p.R69S													.	KANK2	47		0			c.C205A												36	38	37					19																	11304551		2199	4298	6497	SO:0001583	missense	25959	exon2			TCAGGCGGGGGCG	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.205C>A	19.37:g.11304551G>T	ENSP00000465650:p.Arg69Ser		130	0	0		109	0.04	4	NM_015493	59	0	0	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222530	0.58668	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.55052	0.54;0.56	4.38	4.38	0.52667	Kank N-terminal motif (1);	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.65498	2.005	0.48901	D	0.999721	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.961;0.975	T	0.74648	-0.3595	10	0.66056	D	0.02	-20.289	15.7129	0.77644	0.0:0.0:1.0:0.0	.	69;69;69	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	S	69	ENSP00000395650:R69S;ENSP00000347276:R69S	ENSP00000347276:R69S	R	-	1	0	KANK2	11165551	0.572000	0.26668	0.995000	0.50966	0.140000	0.21249	2.098000	0.41757	1.986000	0.57962	0.462000	0.41574	CGC			0.662	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000453066.2		NM_015493		T	11304551	G	T	11304551	3	4	109	1	0	0	0	0	1	0	0	0	7992	1116	39	1	2414	1	KANK2	19	11304551	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	638768	11304551	47824432	72	8186											
EPOR	2057	mdanderson.org	37	chr19	11492419	11492419	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagacgtccacctcgtagcgGatgtgagacgtcatgggtgt	8	9	15	9	4	1	2	1	1	0	2	3	5	2	3	2	2	1	1	2	2	1	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:11492419G>T	ENST00000222139.6	-	4	638	c.534C>A	c.(532-534)atC>atA	p.I178I	EPOR_ENST00000592375.2_Silent_p.I178I	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	178	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CCTCGTAGCGGATGTGAGACG	0.692											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I178I													.	EPOR	26		0			c.C534A												23	19	20					19																	11492419		2202	4297	6499	SO:0001819	synonymous_variant	2057	exon4			GTAGCGGATGTGA	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.534C>A	19.37:g.11492419G>T			81	0	0	672	47	0.06	3	NM_000121	11	0	0	B2RCG4|Q15443|Q2M205	Silent	SNP	ENST00000222139.6	37	CCDS12260.1																																																																																					0.692	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458791.1				T	11492419	G	T	11492419	2	4	109	1	0	0	0	0	0	0	0	1	5196	1164	41	3		3	EPOR	19	11492419	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	187868	11492419	47636564	73	8187											
F2RL3	9002	mdanderson.org	37	chr19	17000071	17000071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggcacccagacccccaGcgtctacgacgagagcggga	9	3	14	15	5	1	2	0	0	1	2	1	5	1	3	3	3	3	1	3	3	1	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:17000071G>T	ENST00000248076.3	+	1	401	c.71G>T	c.(70-72)aGc>aTc	p.S24I	F2RL3_ENST00000599210.1_Missense_Mutation_p.S24I	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	24					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAGACCCCCAGCGTCTACGAC	0.662																																					p.S24I													.	F2RL3	20		0			c.G71T												24	26	26					19																	17000071		2186	4295	6481	SO:0001583	missense	9002	exon1			CCCCCAGCGTCTA	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.71G>T	19.37:g.17000071G>T	ENSP00000248076:p.Ser24Ile		56	0	0		42	0.07	3	NM_003950	2	0	0	O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	G	7.038	0.561941	0.13498	.	.	ENSG00000127533	ENST00000248076	T	0.57273	0.41	2.51	-1.17	0.09648	.	2.543530	0.02295	N	0.070623	T	0.30696	0.0773	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12502	-1.0545	10	0.31617	T	0.26	.	4.8417	0.13494	0.1216:0.0:0.5066:0.3717	.	24	Q96RI0	PAR4_HUMAN	I	24	ENSP00000248076:S24I	ENSP00000248076:S24I	S	+	2	0	F2RL3	16861071	0.001000	0.12720	0.006000	0.13384	0.176000	0.22953	0.833000	0.27504	-0.165000	0.10908	0.491000	0.48974	AGC			0.662	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462875.1				T	17000071	G	T	17000071	3	4	109	1	0	0	0	0	1	0	0	0	5353	971	34	2	73	2	F2RL3	19	17000071	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	5507652	17000071	42128912	74	8188											
CILP2	148113	mdanderson.org	37	chr19	19655439	19655439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgtgggaggaggagagCggcttccggcgcgaggggtc	5	6	22	8	4	0	1	0	0	0	1	2	5	1	3	1	8	1	2	1	8	0	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:19655439C>T	ENST00000291495.5	+	8	2170	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	CILP2_ENST00000586018.1_Silent_p.S701S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	695						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGAGGAGAGCGGCTTCCGGC	0.716																																					p.S695S													.	CILP2	84		0			c.C2085T												4	6	5					19																	19655439		1999	3975	5974	SO:0001819	synonymous_variant	148113	exon8			GGAGAGCGGCTTC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2085C>T	19.37:g.19655439C>T			20	0	0		16	0.13	2	NM_153221	10	0	0	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	CCDS12405.1																																																																																					0.716	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459738.3		NM_153221		T	19655439	C	T	19655439	2	4	109	1	0	0	0	0	0	0	0	1	3432	767	27	1		1	CILP2	19	19655439	Silent	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	2655368	19655439	39473544	75	8189											
ZNF492	57615	mdanderson.org	37	chr19	22836775	22836775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctggagcaaggaaaagaaCcttggaatgtgaagagacat	16	7	13	5	0	1	3	0	1	1	2	1	7	1	6	1	3	2	1	1	3	6	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:22836775C>A	ENST00000456783.2	+	3	332	c.88C>A	c.(88-90)Cct>Act	p.P30T		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	30	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)	p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGAAAAGAACCTTGGAATGT	0.423																																					p.P30T													ZNF492_ENST00000456783,NS,carcinoma,0,1	ZNF492	129	1	1	Substitution - Missense(1)	prostate(1)	c.C88A												97	111	106					19																	22836775		2201	4298	6499	SO:0001583	missense	57615	exon3			AAAGAACCTTGGA	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.88C>A	19.37:g.22836775C>A	ENSP00000413660:p.Pro30Thr		85	0	0		59	0.05	3	NM_020855	28	0	0	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	9.979	1.227512	0.22542	.	.	ENSG00000229676	ENST00000456783	T	0.10668	2.85	0.458	0.458	0.16670	Krueppel-associated box (2);	.	.	.	.	T	0.33847	0.0877	M	0.90483	3.12	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.05903	-1.0857	8	0.66056	D	0.02	.	.	.	.	.	30	Q9P255	ZN492_HUMAN	T	30	ENSP00000413660:P30T	ENSP00000413660:P30T	P	+	1	0	ZNF492	22628615	0.674000	0.27549	0.100000	0.21137	0.091000	0.18340	1.166000	0.31834	0.482000	0.27582	0.484000	0.47621	CCT			0.423	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464581.1		NM_020855		A	22836775	C	A	22836775	3	1	109	1	0	0	0	0	1	0	0	0	17966	507	18	3	94	3	ZNF492	19	22836775	Missense_Mutation	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	3181336	22836775	36292208	76	8190											
LTBP4	8425	broad.mit.edu;mdanderson.org	37	chr19	41113429	41113429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagctctgcccacccttcGgctcaggtgagcccctgcgg	4	7	12	18	2	2	1	1	1	1	0	3	1	2	1	5	3	4	2	5	3	0	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:41113429G>T	ENST00000308370.7	+	10	1351	c.1351G>T	c.(1351-1353)Ggc>Tgc	p.G451C	LTBP4_ENST00000204005.9_Missense_Mutation_p.G414C|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_5'UTR|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000396819.3_Missense_Mutation_p.G384C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	451	TB 2.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCACCCTTCGGCTCAGGTGA	0.642																																					.													.	LTBP4	101		0			.												13	15	15					19																	41113429		2025	4161	6186	SO:0001583	missense	8425	.			CCCTTCGGCTCAG	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.1351G>T	19.37:g.41113429G>T	ENSP00000311905:p.Gly451Cys		66	0	0		59	0.05	3	.	42	0	0	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	G	24.9	4.583856	0.86748	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;D;D	0.93906	-3.31;-3.31;-3.31	4.56	4.56	0.56223	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.39083	N	0.001467	D	0.97065	0.9041	M	0.88640	2.97	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	0.97960	1.0337	10	0.72032	D	0.01	.	16.0844	0.81031	0.0:0.0:1.0:0.0	.	384;451;414	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	C	414;451;384	ENSP00000204005:G414C;ENSP00000311905:G451C;ENSP00000380031:G384C	ENSP00000204005:G414C	G	+	1	0	LTBP4	45805269	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.036000	0.70948	2.077000	0.62373	0.491000	0.48974	GGC			0.642	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_003573		T	41113429	G	T	41113429	3	4	109	1	0	0	0	0	1	0	0	0	9092	1116	39	1	1682	1	LTBP4	19	41113429	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	18276654	41113429	18015554	77	8191											
DACT3	147906	broad.mit.edu	37	chr19	47151865	47151865	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccctgcacctgctccAcccccagaggccgcggtggc	4	4	13	20	3	0	1	0	0	0	1	1	1	1	1	7	4	2	2	7	4	0	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:47151865A>C	ENST00000391916.2	-	4	1837	c.1764T>G	c.(1762-1764)ggT>ggG	p.G588G	DACT3_ENST00000300875.4_Silent_p.G363G	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	588					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CACCTGCTCCACCCCCAGAGG	0.647																																					p.G588G													.	DACT3	26		0			c.T1764G												56	71	66					19																	47151865		2203	4300	6503	SO:0001819	synonymous_variant	147906	exon4			TGCTCCACCCCCA		CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"arginine rich region 1", "dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.1764T>G	19.37:g.47151865A>C			91	0.2197802198	20		94	0.15	14	NM_145056	10	0.1	1		Silent	SNP	ENST00000391916.2	37	CCDS12688.2																																																																																					0.647	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000334090.1		NM_145056		C	47151865	A	C	47151865	2	2	109	1	0	0	0	0	0	0	0	1	4225	146	6	4		4	DACT3	19	47151865	Silent	SNP	A	TCGA-XE-A8H1-01A-11D-A435-10	6038436	47151865	11977118	78	8192											
GLTSCR1	29998	mdanderson.org	37	chr19	48204805	48204805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccctgtcctcctcttcCtcctcctcctctgccgcctc	0	14	3	24	1	2	0	0	0	2	0	11	0	10	0	10	0	1	0	10	0	0	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:48204805C>T	ENST00000396720.3	+	15	4010	c.3816C>T	c.(3814-3816)tcC>tcT	p.S1272S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1272	Poly-Ser.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		cctcctcttcctcctcctcct	0.716																																					p.S1272S													.	GLTSCR1	79		0			c.C3816T												6	9	8					19																	48204805		1999	4048	6047	SO:0001819	synonymous_variant	29998	exon15			CTCTTCCTCCTCC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3816C>T	19.37:g.48204805C>T			43	0	0		26	0.08	2	NM_015711	57	0	0	A8MW01	Silent	SNP	ENST00000396720.3	37	CCDS46134.1																																																																																					0.716	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465846.1		NM_015711		T	48204805	C	T	48204805	2	4	109	1	0	0	0	0	0	0	0	1	6488	668	24	3		3	GLTSCR1	19	48204805	Silent	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	1052940	48204805	10924178	79	8193											
SPHK2	56848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49131956	49131956	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatttgagccagccctgggCctcgacctgttgctcaactg	7	10	11	13	1	1	2	1	1	0	1	2	3	1	2	4	1	4	2	4	1	1	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:49131956C>A	ENST00000245222.4	+	7	1257	c.891C>A	c.(889-891)ggC>ggA	p.G297G	SPHK2_ENST00000598088.1_Silent_p.G297G|SPHK2_ENST00000599029.1_Silent_p.G261G|SPHK2_ENST00000600537.1_Silent_p.G238G|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599748.1_Silent_p.G261G|SPHK2_ENST00000443164.1_Silent_p.G359G	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	297	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)		CAGCCCTGGGCCTCGACCTGT	0.612																																					p.G297G													.	.			0			c.C891A												71	67	69					19																	49131956		2203	4300	6503	SO:0001819	synonymous_variant	56848	exon7			CCTGGGCCTCGAC	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.891C>A	19.37:g.49131956C>A			31	0	0		22	0.32	7	NM_020126	22	0.27	6	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	CCDS12727.1																																																																																					0.612	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000466153.1				A	49131956	C	A	49131956	2	1	109	1	0	0	0	0	0	0	0	1	15070	726	26	2		2	SPHK2	19	49131956	Silent	SNP	C	TCGA-XE-A8H1-01A-11D-A435-10	927151	49131956	9997027	80	8194											
NR1H2	7376	mdanderson.org	37	chr19	50885775	50885775	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcacgctgagctctgtGcactcggagcaggtcttcgc	5	9	13	14	4	2	1	0	1	2	0	4	2	2	2	0	2	4	5	0	2	0	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:50885775G>T	ENST00000253727.5	+	10	1534	c.1299G>T	c.(1297-1299)gtG>gtT	p.V433V	NR1H2_ENST00000599105.1_Silent_p.V389V|NR1H2_ENST00000542413.1_Silent_p.V164V|NR1H2_ENST00000411902.2_Silent_p.V336V|POLD1_ENST00000440232.2_5'Flank|NR1H2_ENST00000598168.1_Silent_p.V403V|NR1H2_ENST00000593926.1_Silent_p.V433V|POLD1_ENST00000599857.1_5'Flank	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	433	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGAGCTCTGTGCACTCGGAGC	0.672																																					p.V433V													.	NR1H2	47		0			c.G1299T												19	25	23					19																	50885775		2128	4249	6377	SO:0001819	synonymous_variant	7376	exon10			CTCTGTGCACTCG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.1299G>T	19.37:g.50885775G>T			52	0	0		54	0.06	3	NM_007121	248	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																					0.672	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464724.2				T	50885775	G	T	50885775	2	4	109	1	0	0	0	0	0	0	0	1	10634	1306	46	2		2	NR1H2	19	50885775	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	1753819	50885775	8243208	81	8195											
POLD1	5424	mdanderson.org	37	chr19	50918754	50918754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggacctgctgtgcaaccGcatcgatatctcccagctgg	7	9	10	15	3	1	0	0	0	1	0	4	2	1	1	3	2	4	4	3	2	2	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:50918754G>A	ENST00000440232.2	+	21	2677	c.2624G>A	c.(2623-2625)cGc>cAc	p.R875H	CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Missense_Mutation_p.R901H|POLD1_ENST00000599857.1_Missense_Mutation_p.R875H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	875					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGTGCAACCGCATCGATATC	0.657								DNA polymerases (catalytic subunits)																													p.R875H													.	POLD1	174		0			c.G2624A												45	36	39					19																	50918754		2203	4300	6503	SO:0001583	missense	5424	exon21			GCAACCGCATCGA		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2624G>A	19.37:g.50918754G>A	ENSP00000406046:p.Arg875His		177	0	0		129	0.04	5	NM_002691	402	0	0	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604917	0.87157	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18174	2.23	4.25	4.25	0.50352	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.059138	0.64402	D	0.000002	T	0.40886	0.1135	M	0.92219	3.285	0.80722	D	1	P;P	0.47409	0.792;0.895	B;P	0.49502	0.429;0.613	T	0.58487	-0.7628	10	0.62326	D	0.03	-20.3747	15.8183	0.78621	0.0:0.0:1.0:0.0	.	901;875	E7EVW0;P28340	.;DPOD1_HUMAN	H	875;876	ENSP00000406046:R875H	ENSP00000366129:R876H	R	+	2	0	POLD1	55610566	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	5.860000	0.69546	2.114000	0.64651	0.450000	0.29827	CGC			0.657	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464732.1				A	50918754	G	A	50918754	3	1	109	1	0	0	0	0	1	0	0	0	12207	1087	38	1	2702	1	POLD1	19	50918754	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	32979	50918754	8210229	82	8196											
U2AF2	11338	mdanderson.org	37	chr19	56172490	56172490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacgccggtgcccgtggtcGggagccagatgaccagacaa	10	4	14	13	4	0	3	0	1	0	2	1	4	0	4	4	3	3	0	4	3	2	0			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr19:56172490G>T	ENST00000308924.4	+	5	461	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W	U2AF2_ENST00000450554.2_Missense_Mutation_p.G141W|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	141					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)		GCCCGTGGTCGGGAGCCAGAT	0.632																																					p.G141W													.	U2AF2	62		0			c.G421T												72	68	69					19																	56172490		2203	4300	6503	SO:0001583	missense	11338	exon5			GTGGTCGGGAGCC	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.421G>T	19.37:g.56172490G>T	ENSP00000307863:p.Gly141Trp		60	0	0		36	0.08	3	NM_001012478	1310	0	1	Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	g	16.31	3.086325	0.55861	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.11385	2.79;2.78	3.56	1.18	0.20946	.	0.000000	0.85682	U	0.000000	T	0.24890	0.0604	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.00573	-1.1664	10	0.66056	D	0.02	-20.7269	8.6245	0.33881	0.0:0.1664:0.6617:0.1719	.	141;141	P26368;P26368-2	U2AF2_HUMAN;.	W	141	ENSP00000307863:G141W;ENSP00000388475:G141W	ENSP00000307863:G141W	G	+	1	0	U2AF2	60864302	1.000000	0.71417	0.944000	0.38274	0.821000	0.46438	8.735000	0.91549	0.257000	0.21650	0.466000	0.42574	GGG			0.632	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000453599.1		NM_007279		T	56172490	G	T	56172490	3	4	109	1	0	0	0	0	1	0	0	0	16847	1116	39	1	439	1	U2AF2	19	56172490	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	5253736	56172490	2956493	83	8197											
MRPS26	64949	mdanderson.org	37	chr20	3027059	3027059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagaggaaggtgcacgagGcccgagccggggttctggcg	7	5	19	10	4	1	1	0	0	1	1	1	4	1	2	2	6	3	3	2	6	1	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr20:3027059G>T	ENST00000380325.3	+	2	377	c.253G>T	c.(253-255)Gcc>Tcc	p.A85S		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	85					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)	2						GGTGCACGAGGCCCGAGCCGG	0.697																																					p.A85S													.	MRPS26	7		0			c.G253T												23	26	25					20																	3027059		2199	4295	6494	SO:0001583	missense	64949	exon2			CACGAGGCCCGAG	AB051354	CCDS13043.1	20p13	2012-09-13	2004-09-22		ENSG00000125901	ENSG00000125901		"Mitochondrial ribosomal proteins / small subunits"	14045	protein-coding gene	gene with protein product		611988	"chromosome 20 open reading frame 193"	C20orf193		11543634	Standard	NM_030811		Approved	MRP-S13, MRP-S26, RPMS13, dJ534B8.3	uc002whs.3	Q9BYN8	OTTHUMG00000031721	ENST00000380325.3:c.253G>T	20.37:g.3027059G>T	ENSP00000369682:p.Ala85Ser		33	0	0		28	0.11	3	NM_030811	610	0	1	Q96Q58	Missense_Mutation	SNP	ENST00000380325.3	37	CCDS13043.1	.	.	.	.	.	.	.	.	.	.	G	9.116	1.007854	0.19199	.	.	ENSG00000125901	ENST00000380325	.	.	.	5.06	0.598	0.17512	.	0.238372	0.34700	N	0.003758	T	0.35595	0.0937	L	0.50333	1.59	0.20975	N	0.999811	B	0.20052	0.041	B	0.14578	0.011	T	0.19614	-1.0300	9	0.34782	T	0.22	-4.9559	7.2372	0.26076	0.0789:0.0:0.4919:0.4292	.	85	Q9BYN8	RT26_HUMAN	S	85	.	ENSP00000369682:A85S	A	+	1	0	MRPS26	2975059	0.986000	0.35501	0.022000	0.16811	0.002000	0.02628	1.409000	0.34680	-0.032000	0.13758	-0.251000	0.11542	GCC			0.697	MRPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077692.2		NM_030811		T	3027059	G	T	3027059	3	4	109	1	0	0	0	0	1	0	0	0	9853	1203	42	2	259	2	MRPS26	20	3027059	Missense_Mutation	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10		3027059	59998461	84	8198											
PXMP4	11264	mdanderson.org	37	chr20	32307918	32307918	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagccccgttccggaaGcccttaagcacggccaacgc	10	4	9	18	4	0	0	0	0	0	0	1	1	1	1	5	2	4	2	5	2	3	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr20:32307918G>T	ENST00000409299.3	-	1	188	c.96C>A	c.(94-96)ggC>ggA	p.G32G	PXMP4_ENST00000344022.3_Silent_p.G32G|PXMP4_ENST00000217398.3_Silent_p.G32G	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	32						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CGTTCCGGAAGCCCTTAAGCA	0.687																																					p.G32G													.	PXMP4	20		0			c.C96A												40	42	41					20																	32307918		2203	4300	6503	SO:0001819	synonymous_variant	11264	exon1			CCGGAAGCCCTTA	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"24 kDa peroxisomal intrinsic membrane protein"		"peroxisomal membrane protein 4 (24kD)"			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.96C>A	20.37:g.32307918G>T			70	0	0		68	0.06	4	NM_183397	16	0	0	A2A2I7|Q9H0T4	Silent	SNP	ENST00000409299.3	37	CCDS13225.1																																																																																					0.687	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078739.2		NM_007238		T	32307918	G	T	32307918	2	4	109	1	0	0	0	0	0	0	0	1	12874	958	34	2		2	PXMP4	20	32307918	Silent	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	29280859	32307918	30717602	85	8199											
MOCS3	8813	mdanderson.org	37	chr20	49576174	49576174	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgctgaaaatcgctgcGggtctgggcccctcttacag	8	9	13	11	2	2	1	0	1	2	0	3	2	2	1	2	2	3	2	2	2	4	1			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr20:49576174G>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|MOCS3_ENST00000244051.1_Silent_p.A265A	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						AAATCGCTGCGGGTCTGGGCC	0.637																																					p.A265A													.	MOCS3	44		0			c.G795T												50	57	55					20																	49576174		2203	4300	6503	SO:0001631	upstream_gene_variant	27304	exon1			CGCTGCGGGTCTG	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.49576174G>T	Exception_encountered		55	0	0		47	0.06	3	NM_014484	48	0	0	O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	CCDS13434.1																																																																																					0.637	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079716.1		NM_003859		T	49576174	G	T	49576174	1	4	109	0	1	0	0	0	0	0	0	0	9708	1103	39	1		1	MOCS3	20	49576174	5'Flank	SNP	G	TCGA-XE-A8H1-01A-11D-A435-10	17268256	49576174	13449346	86	8200											
KRTAP10-7	386675	mdanderson.org	37	chr21	46020867	46020867	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagcaggcctgctgcAtgcccgtctgctgcaagact	6	8	11	16	1	1	1	0	0	1	1	1	1	1	1	4	1	7	5	4	1	1	0	rs944419	byFrequency	TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr21:46020867A>T	ENST00000380102.2	+	1	371	c.346A>T	c.(346-348)Atg>Ttg	p.M116L	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	116	30 X 5 AA repeats of C-C-X(3).		M -> V (in dbSNP:rs944419). {ECO:0000269|PubMed:15028290, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.			keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GGCCTGCTGCATGCCCGTCTG	0.627																																					p.M111L													.	KRTAP10-7	41		0			c.A331T												64	64	64					21																	46020867		2180	4289	6469	SO:0001583	missense	386675	exon2			TGCTGCATGCCCG	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.346A>T	21.37:g.46020867A>T	ENSP00000369445:p.Met116Leu		87	0	0		70	0.04	3	NM_198689	0		0	Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37		.	.	.	.	.	.	.	.	.	.	N	5.366	0.252806	0.10185	.	.	ENSG00000205441	ENST00000380102	T	0.00633	6.08	3.91	-0.152	0.13407	.	.	.	.	.	T	0.00356	0.0011	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38308	-0.9667	9	0.08179	T	0.78	.	7.868	0.29549	0.3906:0.0:0.6094:0.0	.	111	P60409-2	.	L	116	ENSP00000369445:M116L	ENSP00000369445:M116L	M	+	1	0	KRTAP10-7	44845295	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.506000	0.06359	-0.305000	0.08831	-1.232000	0.01568	ATG			0.627	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000128038.1		NM_198689		T	46020867	A	T	46020867	3	4	109	1	0	0	0	0	1	0	0	0	8529	217	8	5	337	5	KRTAP10-7	21	46020867	Missense_Mutation	SNP	A	TCGA-XE-A8H1-01A-11D-A435-10		46020867	2109028	87	8201											
DIP2A	23181	mdanderson.org	37	chr21	47965817	47965817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccggtcaccacaggaggAgcacccatctttgacaggcc	9	7	11	14	1	2	1	1	1	1	0	3	3	3	3	4	4	1	2	4	4	0	2			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chr21:47965817A>G	ENST00000417564.2	+	20	2358	c.2337A>G	c.(2335-2337)ggA>ggG	p.G779G	DIP2A_ENST00000466639.1_Silent_p.G736G|DIP2A_ENST00000427143.2_Silent_p.G715G|DIP2A_ENST00000435722.3_Silent_p.G779G|DIP2A_ENST00000457905.3_Silent_p.G779G|DIP2A_ENST00000318711.7_Silent_p.G780G|DIP2A_ENST00000400274.1_Silent_p.G775G			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	779					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCACAGGAGGAGCACCCATCT	0.592																																					p.G779G													.	DIP2A	332		0			c.A2337G												112	121	118					21																	47965817		2109	4229	6338	SO:0001819	synonymous_variant	23181	exon20			AGGAGGAGCACCC	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2337A>G	21.37:g.47965817A>G			56	0	0		46	0.07	3	NM_206890	38	0	0	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	CCDS46655.1																																																																																					0.592	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000376736.1		NM_015151		G	47965817	A	G	47965817	2	3	109	1	0	0	0	0	0	0	0	1	4532	291	11	4		4	DIP2A	21	47965817	Silent	SNP	A	TCGA-XE-A8H1-01A-11D-A435-10	1944950	47965817	164078	88	8202											
DCAF8L2	347442	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	27765692	27765692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatatcgtcttgcagaccAtgtcggctgtgtcaatactg	9	12	10	10	2	2	1	1	0	1	1	4	1	2	1	1	1	2	3	1	1	4	3			TCGA-XE-A8H1-01A-11D-A435-10	TCGA-XE-A8H1-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	308bc9ed-2d07-4805-8c9b-721b6dac164d	74fe1db1-9f3c-4457-804a-9432ce8156f5	g.chrX:27765692A>G	ENST00000451261.2	+	5	1079	c.680A>G	c.(679-681)cAt>cGt	p.H227R		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	227										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CTTGCAGACCATGTCGGCTGT	0.577																																					p.H227R													.	.			0			c.A680G												68	54	58					X																	27765692		692	1591	2283	SO:0001583	missense	347442	exon1			CAGACCATGTCGG		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.680A>G	X.37:g.27765692A>G	ENSP00000462745:p.His227Arg		104	0	0		117	0.37	43	NM_001136533	15	0	0	B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																					0.577	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056143.4		XM_293354		G	27765692	A	G	27765692	3	3	109	1	0	0	0	0	1	0	0	0	4280	217	8	4	682	4	DCAF8L2	23	27765692	Missense_Mutation	SNP	A	TCGA-XE-A8H1-01A-11D-A435-10		27765692	127504868	89	8203											
TAS1R3	83756	mdanderson.org	37	chr1	1269365	1269365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccatgctggtggaggtcGcactgtgcacctggtacctg	5	10	15	11	1	0	0	0	0	0	0	1	1	0	1	3	5	3	4	3	5	1	1	rs201157733		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr1:1269365G>A	ENST00000339381.5	+	6	2112	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	694					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)		GGTGGAGGTCGCACTGTGCAC	0.697													g|||	1	0.000199681	0	0	5008	,	,		15716	0.001		0	False		,,,				2504	0				p.A694T													.	.			0			c.G2080A												32	30	31					1																	1269365		2198	4292	6490	SO:0001583	missense	83756	exon6			GAGGTCGCACTGT	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.2080G>A	1.37:g.1269365G>A	ENSP00000344411:p.Ala694Thr		18	0	0		17	0.12	2	NM_152228	3	0	0	Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.491	0.862056	0.17178	.	.	ENSG00000169962	ENST00000339381	D	0.88201	-2.35	4.2	2.32	0.28847	GPCR, family 3, C-terminal (2);	10.619200	0.00669	N	0.000633	D	0.82440	0.5037	L	0.46157	1.445	0.18873	N	0.999988	P	0.39157	0.662	B	0.26202	0.067	T	0.70468	-0.4863	10	0.49607	T	0.09	.	2.8302	0.05497	0.1491:0.1468:0.5538:0.1503	.	694	Q7RTX0	TS1R3_HUMAN	T	694	ENSP00000344411:A694T	ENSP00000344411:A694T	A	+	1	0	TAS1R3	1259228	0.108000	0.22018	0.053000	0.19242	0.285000	0.27093	1.164000	0.31810	0.441000	0.26529	0.456000	0.33151	GCA	0.001		0.697	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008493.1				A	1269365	G	A	1269365	3	1	110	1	0	0	0	0	1	0	0	0	15587	1087	38	1	2102	1	TAS1R3	1	1269365	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		1269365	247981256	1	8204											
EIF2B3	8891	broad.mit.edu;mdanderson.org	37	chr1	45341312	45341312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgtttgctgacaatctggGctgacgaatggactggtggt	7	12	16	6	1	1	2	0	2	1	0	1	4	1	3	0	5	1	3	0	5	2	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr1:45341312G>T	ENST00000360403.2	-	9	1157	c.1031C>A	c.(1030-1032)gCc>gAc	p.A344D	EIF2B3_ENST00000372183.3_Missense_Mutation_p.A344D	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	344					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|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)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GACAATCTGGGCTGACGAATG	0.483																																					p.A344D	Colon(26;357 658 2581 11857 12657)												.	EIF2B3	43		0			c.C1031A												156	137	144					1																	45341312		2203	4300	6503	SO:0001583	missense	8891	exon9			ATCTGGGCTGACG	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1031C>A	1.37:g.45341312G>T	ENSP00000353575:p.Ala344Asp		89	0	0		91	0.05	5	NM_020365	262	0	1	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	CCDS517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.061923|4.061923	0.76187|0.76187	.|.	.|.	ENSG00000070785|ENSG00000070785	ENST00000360403;ENST00000372183|ENST00000439363	T;D|.	0.90504|.	0.59;-2.68|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.047903|.	0.85682|.	D|.	0.000000|.	D|D	0.83524|0.83524	0.5273|0.5273	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	P;D|.	0.63046|.	0.811;0.992|.	P;D|.	0.66351|.	0.749;0.943|.	D|D	0.85403|0.85403	0.1132|0.1132	10|5	0.44086|.	T|.	0.13|.	-1.7926|-1.7926	18.7825|18.7825	0.91939|0.91939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	344;344|.	Q9NR50-2;Q9NR50|.	.;EI2BG_HUMAN|.	D|T	344|165	ENSP00000353575:A344D;ENSP00000361257:A344D|.	ENSP00000353575:A344D|.	A|P	-|-	2|1	0|0	EIF2B3|EIF2B3	45113899|45113899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.840000|0.840000	0.47671|0.47671	7.310000|7.310000	0.78947|0.78947	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	GCC|CCC			0.483	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023724.1		NM_020365		T	45341312	G	T	45341312	3	4	110	1	0	0	0	0	1	0	0	0	5007	1203	42	2	380	2	EIF2B3	1	45341312	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	44071947	45341312	203909309	2	8205											
PKP1	5317	bcgsc.ca	37	chr1	201291157	201291157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcctaccgcctggacGccgaggtgcccacccgctac	6	6	9	20	4	1	0	0	0	1	0	2	2	1	1	7	2	3	1	7	2	2	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr1:201291157G>T	ENST00000352845.3	+	9	1462	c.1462G>T	c.(1462-1464)Gcc>Tcc	p.A488S	PKP1_ENST00000263946.3_Missense_Mutation_p.A488S|PKP1_ENST00000367324.3_Missense_Mutation_p.A467S			Q13835	PKP1_HUMAN	plakophilin 1	488					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCGCCTGGACGCCGAGGTGCC	0.617																																					p.A488S													.	PKP1	127		0			c.G1462T												122	97	105					1																	201291157		2203	4300	6503	SO:0001583	missense	5317	exon9			CTGGACGCCGAGG	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1462G>T	1.37:g.201291157G>T	ENSP00000295597:p.Ala488Ser		88	0.0113636364	1		56	0.07	4	NM_000299	0		0	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096990	0.76870	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.76578	-1.03;-1.03;-1.03	5.12	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.322569	0.32533	N	0.005971	T	0.70527	0.3234	L	0.40543	1.245	0.42641	D	0.993411	P;P;P	0.47841	0.593;0.901;0.87	B;P;B	0.46510	0.237;0.519;0.418	T	0.65915	-0.6052	10	0.11182	T	0.66	0.4573	11.6185	0.51104	0.0835:0.0:0.9165:0.0	.	75;467;488	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	S	467;488;488	ENSP00000356293:A467S;ENSP00000263946:A488S;ENSP00000295597:A488S	ENSP00000263946:A488S	A	+	1	0	PKP1	199557780	0.697000	0.27767	0.661000	0.29709	0.874000	0.50279	1.454000	0.35178	1.173000	0.42796	0.650000	0.86243	GCC			0.617	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000086897.1		NM_000299		T	201291157	G	T	201291157	3	4	110	1	0	0	0	0	1	0	0	0	12001	1087	38	1	1496	1	PKP1	1	201291157	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	155949845	201291157	47959464	3	8206											
RNASEH1	246243	broad.mit.edu	37	chr2	3599780	3599780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggaggcgccggctccacGctcggcttcatgtgctttgc	4	10	13	14	4	1	0	1	0	0	0	3	1	2	1	2	4	2	4	2	4	0	2	rs201104222		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr2:3599780G>T	ENST00000315212.3	-	3	718	c.363C>A	c.(361-363)agC>agA	p.S121R		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	121					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CCGGCTCCACGCTCGGCTTCA	0.512																																					p.S121R													.	RNASEH1	27		0			c.C363A												95	93	93					2																	3599780		2203	4300	6503	SO:0001583	missense	246243	exon3			CTCCACGCTCGGC	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"RNase H1"	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.363C>A	2.37:g.3599780G>T	ENSP00000313350:p.Ser121Arg		79	0	0		95	0.03	3	NM_002936	158	0	0	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570454	0.28003	.	.	ENSG00000171865	ENST00000315212	T	0.46063	0.88	6.03	2.87	0.33458	.	1.746830	0.02220	N	0.063930	T	0.27489	0.0675	N	0.19112	0.55	0.09310	N	1	P	0.49635	0.926	B	0.41666	0.363	T	0.21861	-1.0233	10	0.17369	T	0.5	-30.7786	3.0247	0.06086	0.3013:0.2331:0.4656:0.0	.	121	O60930	RNH1_HUMAN	R	121	ENSP00000313350:S121R	ENSP00000313350:S121R	S	-	3	2	RNASEH1	3577655	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.487000	0.22356	0.804000	0.34136	-0.137000	0.14449	AGC			0.512	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206605.2				T	3599780	G	T	3599780	3	4	110	1	0	0	0	0	1	0	0	0	13434	1078	38	1	521	1	RNASEH1	2	3599780	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		3599780	239599593	4	8207											
EPAS1	2034	broad.mit.edu;mdanderson.org	37	chr2	46605204	46605204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacccccagtgccaccaGcagcagcagcagctgctcca	10	3	8	20	0	0	0	0	0	0	0	1	0	1	0	6	0	7	6	6	0	0	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr2:46605204G>C	ENST00000263734.3	+	10	1931	c.1421G>C	c.(1420-1422)aGc>aCc	p.S474T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	474	Poly-Ser.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|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)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGCCACCAGCAGCAGCAGC	0.647																																					p.S474T													.	EPAS1	83		0			c.G1421C												11	11	11					2																	46605204		2187	4279	6466	SO:0001583	missense	2034	exon10			CCACCAGCAGCAG	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1421G>C	2.37:g.46605204G>C	ENSP00000263734:p.Ser474Thr		63	0	0		75	0.05	4	NM_001430	30	0	0	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	7.913	0.736896	0.15574	.	.	ENSG00000116016	ENST00000263734	T	0.52057	0.68	0.355	0.355	0.16069	.	0.384965	0.33875	N	0.004469	T	0.31606	0.0802	L	0.46157	1.445	0.26854	N	0.968104	B	0.31931	0.347	B	0.20577	0.03	T	0.15065	-1.0450	9	0.41790	T	0.15	.	.	.	.	.	474	Q99814	EPAS1_HUMAN	T	474	ENSP00000263734:S474T	ENSP00000263734:S474T	S	+	2	0	EPAS1	46458708	0.936000	0.31750	0.816000	0.32577	0.971000	0.66376	0.064000	0.14437	0.458000	0.26988	0.089000	0.15464	AGC			0.647	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250752.2		NM_001430		C	46605204	G	C	46605204	3	2	110	1	0	0	0	0	1	0	0	0	5157	971	34	5	1459	5	EPAS1	2	46605204	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	43005424	46605204	196594169	5	8208											
STAT1	6772	mdanderson.org	37	chr2	191864377	191864377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcaaggttttgcatttGaagtcatattcatcttgtaa	10	18	7	6	0	4	1	2	1	2	0	4	1	4	1	0	1	2	4	0	1	4	8			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr2:191864377G>T	ENST00000361099.3	-	7	903	c.516C>A	c.(514-516)ttC>ttA	p.F172L	STAT1_ENST00000540176.1_Missense_Mutation_p.F172L|STAT1_ENST00000409465.1_Missense_Mutation_p.F172L|STAT1_ENST00000392323.2_Missense_Mutation_p.F174L|STAT1_ENST00000392322.3_Missense_Mutation_p.F172L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	172					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)			TTTTGCATTTGAAGTCATATT	0.383																																					p.F172L													.	.			0			c.C516A												136	124	128					2																	191864377		2202	4299	6501	SO:0001583	missense	6772	exon7			GCATTTGAAGTCA		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.516C>A	2.37:g.191864377G>T	ENSP00000354394:p.Phe172Leu		98	0	0		84	0.05	4	NM_139266	648	0	0	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026340	0.75390	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000544783;ENST00000424722	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.79	-0.81	0.10860	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	T	0.73760	0.3628	M	0.84683	2.71	0.50313	D	0.99986	D;P	0.76494	0.999;0.906	D;P	0.71656	0.974;0.703	T	0.73773	-0.3877	10	0.40728	T	0.16	-24.792	13.673	0.62436	0.4335:0.0:0.5665:0.0	.	172;172	P42224-2;P42224	.;STAT1_HUMAN	L	172;172;172;172;174;80;172	ENSP00000354394:F172L;ENSP00000386244:F172L;ENSP00000438703:F172L;ENSP00000376136:F172L;ENSP00000376137:F174L;ENSP00000402548:F172L	ENSP00000354394:F172L	F	-	3	2	STAT1	191572622	0.620000	0.27068	0.984000	0.44739	0.968000	0.65278	-0.083000	0.11286	-0.336000	0.08438	-0.982000	0.02568	TTC			0.383	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255997.3		NM_007315		T	191864377	G	T	191864377	3	4	110	1	0	0	0	0	1	0	0	0	15287	1281	45	3	1816	3	STAT1	2	191864377	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	145259173	191864377	51334996	6	8209											
CHL1	10752	mdanderson.org	37	chr3	407688	407688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtatccccaaattgcatatGcttgaattacattgtgaaag	13	13	7	8	1	0	2	0	2	0	0	1	2	1	2	2	0	3	3	2	0	6	6			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr3:407688G>T	ENST00000256509.2	+	15	2283	c.1641G>T	c.(1639-1641)atG>atT	p.M547I	CHL1_ENST00000397491.2_Missense_Mutation_p.M531I|CHL1-AS1_ENST00000417612.1_RNA|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AATTGCATATGCTTGAATTAC	0.353																																					p.M547I													.	.			0			c.G1641T												103	99	100					3																	407688		2203	4300	6503	SO:0001583	missense	10752	exon13			GCATATGCTTGAA	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1641G>T	3.37:g.407688G>T	ENSP00000256509:p.Met547Ile		67	0	0		44	0.07	3	NM_001253388	0		0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	2.498	-0.315917	0.05422	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.12465	2.68;2.68	5.18	-4.4	0.03600	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.929343	0.09216	N	0.832555	T	0.06142	0.0159	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	0.36553	-0.9743	10	0.48119	T	0.1	.	3.5384	0.07802	0.384:0.1083:0.4003:0.1074	.	531;531;547	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	I	547;531	ENSP00000256509:M547I;ENSP00000380628:M531I	ENSP00000256509:M547I	M	+	3	0	CHL1	382688	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.585000	0.05794	-0.723000	0.04915	-0.251000	0.11542	ATG			0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207155.2		NM_006614		T	407688	G	T	407688	3	4	110	1	0	0	0	0	1	0	0	0	3351	1319	46	2	1691	2	CHL1	3	407688	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		407688	197614742	7	8210											
IL17RC	84818	mdanderson.org	37	chr3	9974650	9974650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggcagcggccgccaggggCcgcgcggctctgctcctcta	3	5	15	18	6	2	0	0	0	2	0	3	0	3	0	5	5	2	3	5	5	1	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr3:9974650C>T	ENST00000295981.3	+	19	1967	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	CRELD1_ENST00000326434.5_5'Flank|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000498214.1_3'UTR|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000455057.1_Silent_p.G480G|CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000403601.3_Silent_p.G512G|IL17RC_ENST00000413608.1_Silent_p.G499G|IL17RC_ENST00000416074.2_Silent_p.G338G|IL17RC_ENST00000383812.4_Silent_p.G497G	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	583	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				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						CCGCCAGGGGCCGCGCGGCTC	0.741											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G583G													.	.			0			c.C1749T												8	11	10					3																	9974650		1602	3502	5104	SO:0001819	synonymous_variant	84818	exon19			CAGGGGCCGCGCG	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.1749C>T	3.37:g.9974650C>T			28	0	0	661	32	0.09	3	NM_153461	25	0	0	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	CCDS2590.1																																																																																					0.741	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250526.2		NM_032732		T	9974650	C	T	9974650	2	4	110	1	0	0	0	0	0	0	0	1	7656	726	26	2		2	IL17RC	3	9974650	Silent	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	9566962	9974650	188047780	8	8211											
FEZF2	55079	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	62355878	62355878	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaaccctttgccgcaagtGgcgcacgtgaaaggcttctt	10	9	10	12	3	1	1	0	1	1	0	1	1	1	1	2	2	2	3	2	2	4	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr3:62355878G>A	ENST00000283268.3	-	5	1554	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000475839.1_Silent_p.A420A|FEZF2_ENST00000486811.1_Silent_p.A420A	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	420					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TGCCGCAAGTGGCGCACGTGA	0.522																																					p.A420A	NSCLC(170;1772 2053 12525 15604 23984)												.	.			0			c.C1260T												253	230	238					3																	62355878		2203	4300	6503	SO:0001819	synonymous_variant	55079	exon5			GCAAGTGGCGCAC	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1260C>T	3.37:g.62355878G>A			188	0	0		155	0.11	17	NM_018008	0		0	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	CCDS2897.1																																																																																					0.522	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351813.1		NM_018008		A	62355878	G	A	62355878	2	1	110	1	0	0	0	0	0	0	0	1	5839	1335	47	3		3	FEZF2	3	62355878	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	52381228	62355878	135666552	9	8212											
NEK11	79858	mdanderson.org	37	chr3	130947422	130947422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactacgctgatgcatttGattcctattgtgaagagagt	11	14	10	6	1	0	4	0	3	0	1	1	5	1	4	1	0	3	3	1	0	4	6			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr3:130947422G>T	ENST00000510769.1	+	11	1388	c.1135G>T	c.(1135-1137)Gat>Tat	p.D379Y	NEK11_ENST00000508196.1_Missense_Mutation_p.D484Y|NEK11_ENST00000412440.2_Missense_Mutation_p.D300Y|NEK11_ENST00000429253.2_Missense_Mutation_p.D484Y|NEK11_ENST00000510688.1_Missense_Mutation_p.D484Y|NEK11_ENST00000383366.4_Missense_Mutation_p.D484Y					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGATGCATTTGATTCCTATTG	0.398																																					p.D484Y													.	.			0			c.G1450T												139	132	135					3																	130947422		2203	4300	6503	SO:0001583	missense	79858	exon15			GCATTTGATTCCT	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1135G>T	3.37:g.130947422G>T	ENSP00000421549:p.Asp379Tyr		56	0	0		51	0.06	3	NM_024800	7	0	0		Missense_Mutation	SNP	ENST00000510769.1	37		.	.	.	.	.	.	.	.	.	.	G	14.64	2.596649	0.46318	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000510688;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T;T	0.76578	-1.03;-0.78;-0.89;-0.78;-1.01;-0.78	5.67	4.79	0.61399	.	0.000000	0.43747	D	0.000525	D	0.84238	0.5428	L	0.50333	1.59	0.38296	D	0.942857	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.72338	0.973;0.963;0.977;0.95	D	0.87130	0.2196	10	0.87932	D	0	.	13.9377	0.64034	0.0:0.1523:0.8477:0.0	.	379;300;484;484	E9PHI8;B4DDN2;Q8NG66-4;Q8NG66	.;.;.;NEK11_HUMAN	Y	379;484;484;484;300;484	ENSP00000421549:D379Y;ENSP00000397180:D484Y;ENSP00000423458:D484Y;ENSP00000372857:D484Y;ENSP00000411888:D300Y;ENSP00000421851:D484Y	ENSP00000372857:D484Y	D	+	1	0	NEK11	132430112	1.000000	0.71417	0.996000	0.52242	0.184000	0.23303	3.812000	0.55628	1.366000	0.46076	0.655000	0.94253	GAT			0.398	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000356757.1		NM_024800		T	130947422	G	T	130947422	3	4	110	1	0	0	0	0	1	0	0	0	10340	1290	45	3	1518	3	NEK11	3	130947422	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	68591544	130947422	67075008	10	8213											
HPS3	84343	broad.mit.edu	37	chr3	148858028	148858028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagaccttctcgttggctGcacaaataaattagtcttat	12	13	8	8	1	2	1	0	0	2	1	3	2	2	1	1	2	1	3	1	2	5	5			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr3:148858028G>A	ENST00000296051.2	+	2	595	c.455G>A	c.(454-456)tGc>tAc	p.C152Y	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	152					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)			CTCGTTGGCTGCACAAATAAA	0.388									Hermansky-Pudlak syndrome																												p.C152Y													.	HPS3	104		0			c.G455A												123	122	122					3																	148858028		2203	4300	6503	SO:0001583	missense	84343	exon2	Familial Cancer Database	HPS, HPS1-8	TTGGCTGCACAAA	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.455G>A	3.37:g.148858028G>A	ENSP00000296051:p.Cys152Tyr		174	0	0		159	0.03	5	NM_032383	8	0	0	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479905	0.84747	.	.	ENSG00000163755	ENST00000296051	T	0.65178	-0.14	5.55	5.55	0.83447	.	0.047486	0.85682	D	0.000000	T	0.79764	0.4502	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80830	-0.1207	10	0.87932	D	0	-16.6143	19.8692	0.96843	0.0:0.0:1.0:0.0	.	152	Q969F9	HPS3_HUMAN	Y	152	ENSP00000296051:C152Y	ENSP00000296051:C152Y	C	+	2	0	HPS3	150340718	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.552000	0.60747	2.762000	0.94881	0.585000	0.79938	TGC			0.388	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356151.1		NM_032383		A	148858028	G	A	148858028	3	1	110	1	0	0	0	0	1	0	0	0	7355	1319	46	2	461	2	HPS3	3	148858028	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	17910606	148858028	49164402	11	8214											
PKD2	5311	mdanderson.org	37	chr4	88964595	88964595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaacgccaacattaacctGttctgtgtggtcaggtgtgt	9	13	10	9	1	2	0	1	0	1	0	2	0	2	0	2	2	4	1	2	2	4	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr4:88964595G>T	ENST00000237596.2	+	5	1371	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L	PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACATTAACCTGTTCTGTGTGG	0.468																																					p.L435L													.	.			0			c.G1305T												133	93	107					4																	88964595		2203	4300	6503	SO:0001819	synonymous_variant	5311	exon5			TAACCTGTTCTGT	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1305G>T	4.37:g.88964595G>T			65	0	0		42	0.07	3	NM_000297	14	0	0	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000237596.2	37	CCDS3627.1																																																																																					0.468	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253042.4		NM_000297		T	88964595	G	T	88964595	2	4	110	1	0	0	0	0	0	0	0	1	11983	1364	48	3		3	PKD2	4	88964595	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		88964595	102189681	12	8215											
UBE2D3	7323	broad.mit.edu	37	chr4	103730964	103730964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttactatcatccccaactgGacctgcagaacattgtgctg	10	11	7	13	0	1	1	1	0	0	1	2	2	2	2	3	1	5	2	3	1	4	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr4:103730964G>T	ENST00000453744.2	-	3	586	c.73C>A	c.(73-75)Cca>Aca	p.P25T	UBE2D3_ENST00000502404.1_5'UTR|UBE2D3_ENST00000349311.8_Missense_Mutation_p.P25T|UBE2D3_ENST00000394801.4_Missense_Mutation_p.P25T|UBE2D3_ENST00000394804.2_Missense_Mutation_p.P25T|UBE2D3_ENST00000505207.1_5'UTR|UBE2D3_ENST00000507845.1_5'UTR|UBE2D3_ENST00000321805.7_Missense_Mutation_p.P25T|UBE2D3_ENST00000357194.6_Missense_Mutation_p.P27T|UBE2D3_ENST00000394803.5_Missense_Mutation_p.P25T|UBE2D3_ENST00000343106.5_Missense_Mutation_p.P25T|UBE2D3_ENST00000338145.3_Missense_Mutation_p.P25T|UBE2D3_ENST00000350435.7_Missense_Mutation_p.P19T|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000504211.1_5'UTR	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	25					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TCCCCAACTGGACCTGCAGAA	0.363																																					p.P27T													UBE2D3_ENST00000343106,right_upper_lobe,carcinoma,0,2	UBE2D3	25	2	0			c.C79A												111	114	113					4																	103730964		2203	4300	6503	SO:0001583	missense	7323	exon2			CAACTGGACCTGC	U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"Ubiquitin-conjugating enzymes E2"	12476	protein-coding gene	gene with protein product		602963	"ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.73C>A	4.37:g.103730964G>T	ENSP00000396901:p.Pro25Thr		301	0	0		256	0.02	4	NM_181893	475	0	0	A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	ENST00000453744.2	37	CCDS3660.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410624	0.83340	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000357194;ENST00000508238;ENST00000502690;ENST00000508249	T;T;T;T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.58	5.58	0.84498	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	M	0.81112	2.525	0.80722	D	1	B;B;B	0.26935	0.164;0.122;0.164	B;P;B	0.44561	0.401;0.453;0.187	T	0.74569	-0.3622	10	0.87932	D	0	.	19.6572	0.95847	0.0:0.0:1.0:0.0	.	27;25;25	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	T	25;25;25;25;25;25;19;25;25;27;25;25;25	ENSP00000396901:P25T;ENSP00000378280:P25T;ENSP00000378282:P25T;ENSP00000378283:P25T;ENSP00000345285:P25T;ENSP00000318494:P25T;ENSP00000337262:P19T;ENSP00000337208:P25T;ENSP00000344069:P25T;ENSP00000349722:P27T;ENSP00000423487:P25T;ENSP00000425762:P25T;ENSP00000421310:P25T	ENSP00000318494:P25T	P	-	1	0	UBE2D3	103950075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.494000	0.97962	2.630000	0.89119	0.650000	0.86243	CCA			0.363	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000253791.2		NM_181893		T	103730964	G	T	103730964	3	4	110	1	0	0	0	0	1	0	0	0	16874	1174	41	3	447	3	UBE2D3	4	103730964	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	14766369	103730964	87423312	13	8216											
PLEKHG4B	153478	bcgsc.ca;mdanderson.org	37	chr5	174144	174144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattctccaagcaagctcgGcagaggtcaagagtgcatgg	12	7	12	10	1	2	2	1	0	1	2	4	2	2	2	1	3	3	4	1	3	3	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr5:174144G>A	ENST00000283426.6	+	16	3315	c.3265G>A	c.(3265-3267)Gca>Aca	p.A1089T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1089	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						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)		AGCAAGCTCGGCAGAGGTCAA	0.587																																					p.A1089T													.	PLEKHG4B	167		0			c.G3265A												63	50	54					5																	174144		2203	4300	6503	SO:0001583	missense	153478	exon16			AGCTCGGCAGAGG	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.3265G>A	5.37:g.174144G>A	ENSP00000283426:p.Ala1089Thr		101	0	0		96	0.05	5	NM_052909	1	0	0		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	2.443	-0.328148	0.05314	.	.	ENSG00000153404	ENST00000283426	T	0.11495	2.77	3.38	2.47	0.30058	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.11153	0.0272	M	0.69185	2.1	0.09310	N	0.999999	P	0.37824	0.609	B	0.33690	0.168	T	0.21999	-1.0229	9	0.16896	T	0.51	.	9.4005	0.38428	0.0:0.4289:0.5711:0.0	.	1089	Q96PX9	PKH4B_HUMAN	T	1089	ENSP00000283426:A1089T	ENSP00000283426:A1089T	A	+	1	0	PLEKHG4B	227144	0.043000	0.20138	0.006000	0.13384	0.201000	0.24016	0.838000	0.27572	0.363000	0.24346	0.467000	0.42956	GCA			0.587	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365359.1		NM_052909		A	174144	G	A	174144	3	1	110	1	0	0	0	0	1	0	0	0	12089	1203	42	2	3327	2	PLEKHG4B	5	174144	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		174144	180741116	14	8217											
PCDHB10	56126	mdanderson.org	37	chr5	140573922	140573922	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggcgactcgggccagaaCgcctggctgtcgtaccagct	7	6	14	14	5	0	1	0	0	0	1	2	3	0	1	3	3	3	3	3	3	2	1	rs376773467		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr5:140573922C>T	ENST00000239446.4	+	1	1981	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	599	Cadherin 6. {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)			CGGGCCAGAACGCCTGGCTGT	0.721																																					p.N599N													.	.			0			c.C1797T												4	6	5					5																	140573922		1101	2431	3532	SO:0001819	synonymous_variant	56126	exon1			CCAGAACGCCTGG	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.1797C>T	5.37:g.140573922C>T			20	0	0		15	0.13	2	NM_018930	1	0	0	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																					0.721	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251821.1		NM_018930		T	140573922	C	T	140573922	2	4	110	1	0	0	0	0	0	0	0	1	11552	535	19	1		1	PCDHB10	5	140573922	Silent	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	140399778	140573922	40341338	15	8218											
FAM8A1	51439	hgsc.bcm.edu	37	chr6	17602826	17602826	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaatttacaggcagaGaatatgttattccatccttg	11	18	6	6	0	0	1	0	0	0	1	2	2	2	1	2	1	1	2	2	1	5	9	rs74444948	byFrequency	TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr6:17602826G>T	ENST00000259963.3	+	2	773	c.718G>T	c.(718-720)Gaa>Taa	p.E240*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	240						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TACAGGCAGAGAATATGTTAT	0.328																																					p.E240X													FAM8A1,NS,carcinoma,-1,2	FAM8A1	-1	2	0			c.G718T												100	101	101					6																	17602826		2203	4299	6502	SO:0001587	stop_gained	51439	exon2			GGCAGAGAATATG	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.718G>T	6.37:g.17602826G>T	ENSP00000259963:p.Glu240*		41	0.0487804878	2		56	0.05	3	NM_016255	16	0	0	B2R725	Nonsense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	37	6.420554	0.97555	.	.	ENSG00000137414	ENST00000259963	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.04	18.5673	0.91121	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000259963:E240X	E	+	1	0	FAM8A1	17710805	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.467000	0.97671	2.356000	0.79943	0.644000	0.83932	GAA	0.008		0.328	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039950.1				T	17602826	G	T	17602826	4	4	110	1	0	0	0	0	0	1	0	0	5662	943	33	3	724	3	FAM8A1	6	17602826	Nonsense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		17602826	153512241	16	8219											
EHMT2	10919	mdanderson.org	37	chr6	31860678	31860678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcagggggccgcttctcagGgaccgggggctgtgggccga	4	7	19	11	3	2	0	2	0	1	0	3	2	2	1	3	6	0	2	3	6	0	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr6:31860678G>T	ENST00000375537.4	-	5	598	c.592C>A	c.(592-594)Cct>Act	p.P198T	EHMT2_ENST00000395728.3_Missense_Mutation_p.P255T|EHMT2_ENST00000375530.4_Missense_Mutation_p.P198T|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P255T	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	198					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						CGCTTCTCAGGGACCGGGGGC	0.627																																					p.P198T													.	.			0			c.C592A												27	30	29					6																	31860678		1508	2708	4216	SO:0001583	missense	10919	exon5			TCTCAGGGACCGG	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.592C>A	6.37:g.31860678G>T	ENSP00000364687:p.Pro198Thr		76	0	0		45	0.07	3	NM_025256	29	0	0	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699823	0.68501	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.94	4.94	0.65067	.	0.000000	0.47455	D	0.000225	T	0.25121	0.0610	N	0.08118	0	0.45946	D	0.998772	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.78314	0.987;0.991;0.981	T	0.21895	-1.0232	10	0.42905	T	0.14	.	15.5524	0.76164	0.0:0.0:1.0:0.0	.	255;198;198	A2ABF8;Q96KQ7-2;Q96KQ7	.;.;EHMT2_HUMAN	T	255;255;198;198;12	ENSP00000379078:P255T;ENSP00000364678:P255T;ENSP00000364680:P198T;ENSP00000364687:P198T	ENSP00000364678:P255T	P	-	1	0	EHMT2	31968657	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	4.702000	0.61817	2.727000	0.93392	0.655000	0.94253	CCT			0.627	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000076355.5		NM_006709		T	31860678	G	T	31860678	3	4	110	1	0	0	0	0	1	0	0	0	4989	1232	43	3	3136	3	EHMT2	6	31860678	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	14257852	31860678	139254389	17	8220											
MEP1A	4224	mdanderson.org	37	chr6	46766384	46766384	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggggacatcctcttgcagGtgagtacctgtcaatgatgc	10	10	12	9	0	2	2	1	2	1	0	3	3	3	3	2	3	3	2	2	3	3	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr6:46766384G>T	ENST00000230588.4	+	4	195		c.e4+1			NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)						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)			CCTCTTGCAGGTGAGTACCTG	0.468																																					.													.	.			0			c.186+1G>T												72	71	71					6																	46766384		2203	4300	6503	SO:0001630	splice_region_variant	4224	exon4			TTGCAGGTGAGTA		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.186+1G>T	6.37:g.46766384G>T			25	0	0		24	0.13	3	NM_005588	0		0	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Splice_Site	SNP	ENST00000230588.4	37	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514292	0.27123	.	.	ENSG00000112818	ENST00000230588	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5269	0.67894	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEP1A	46874343	1.000000	0.71417	0.968000	0.41197	0.152000	0.21847	5.038000	0.64177	2.563000	0.86464	0.557000	0.71058	.			0.468	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040803.1		NM_005588	Intron	T	46766384	G	T	46766384	5	4	110	1	0	0	0	0	0	0	1	0	9491	1275	44	3	201	3	MEP1A	6	46766384	Splice_Site	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	14905706	46766384	124348683	18	8221											
WIPI2	26100	broad.mit.edu	37	chr7	5266833	5266833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaggagcccaccaccTggaccgggtacttcgggaaa	10	4	12	15	2	0	1	0	0	0	1	1	4	0	4	6	4	2	1	6	4	2	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr7:5266833T>C	ENST00000288828.4	+	10	1103	c.871T>C	c.(871-873)Tgg>Cgg	p.W291R	WIPI2_ENST00000404704.3_Missense_Mutation_p.W291R|WIPI2_ENST00000484262.1_Missense_Mutation_p.W232R|WIPI2_ENST00000401525.3_Missense_Mutation_p.W273R|WIPI2_ENST00000382384.2_Missense_Mutation_p.W273R	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	291					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCCCACCACCTGGACCGGGTA	0.627																																					p.W291R													.	WIPI2	41		0			c.T871C												83	82	82					7																	5266833		2203	4300	6503	SO:0001583	missense	26100	exon10			ACCACCTGGACCG		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.871T>C	7.37:g.5266833T>C	ENSP00000288828:p.Trp291Arg		78	0	0		79	0.04	3	NM_015610	241	0	0	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228242	0.79576	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.45276	1.2;1.24;1.19;1.24;0.9	5.93	5.93	0.95920	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	M	0.77313	2.365	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;1.0;1.0;0.998;0.998	T	0.62343	-0.6874	10	0.23302	T	0.38	-25.0015	16.3829	0.83481	0.0:0.0:0.0:1.0	.	285;273;273;291;291	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	R	291;273;291;273;232;285	ENSP00000288828:W291R;ENSP00000384945:W273R;ENSP00000385297:W291R;ENSP00000371821:W273R;ENSP00000429654:W232R	ENSP00000288828:W291R	W	+	1	0	WIPI2	5233359	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.608000	0.82898	2.271000	0.75665	0.459000	0.35465	TGG			0.627	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000241669.2		NM_015610		C	5266833	T	C	5266833	3	2	110	1	0	0	0	0	1	0	0	0	17395	1580	55	4	943	4	WIPI2	7	5266833	Missense_Mutation	SNP	T	TCGA-XE-A8H4-01A-31D-A435-10		5266833	153871830	19	8222											
BZW2	28969	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	16725542	16725542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacagcttctcctcttcCttaaagccttttccgaaaca	10	12	3	16	1	2	0	0	0	2	0	5	1	4	0	5	0	3	1	5	0	3	5			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr7:16725542C>T	ENST00000433922.2	+	6	596	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	BZW2_ENST00000452975.2_Intron|BZW2_ENST00000405202.1_Missense_Mutation_p.L64F|BZW2_ENST00000258761.3_Missense_Mutation_p.L140F|BZW2_ENST00000432311.1_Intron|BZW2_ENST00000407633.1_5'Flank	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	140					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCTCCTCTTCCTTAAAGCCTT	0.443																																					p.L140F													.	BZW2	35		0			c.C418T												24	23	23					7																	16725542		2186	4266	6452	SO:0001583	missense	28969	exon6			CTCTTCCTTAAAG	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.418C>T	7.37:g.16725542C>T	ENSP00000397249:p.Leu140Phe		49	0.0612244898	3		55	0.38	21	NM_014038	79	0.22	17	A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339979	0.60963	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.98	4.09	0.47781	.	0.082842	0.49305	D	0.000147	T	0.42223	0.1193	M	0.76328	2.33	0.80722	D	1	B;B;B	0.29862	0.107;0.037;0.259	B;B;B	0.22386	0.032;0.039;0.032	T	0.50906	-0.8772	10	0.66056	D	0.02	-10.6239	12.7312	0.57199	0.0:0.9205:0.0:0.0795	.	140;140;140	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	F	140;140;140;64;140;140;140	ENSP00000403481:L140F;ENSP00000258761:L140F;ENSP00000397249:L140F;ENSP00000385577:L64F;ENSP00000412750:L140F;ENSP00000415924:L140F;ENSP00000416531:L140F	ENSP00000258761:L140F	L	+	1	0	BZW2	16692067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.035000	0.70940	2.328000	0.79073	0.467000	0.42956	CTT			0.443	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253256.2		NM_014038		T	16725542	C	T	16725542	3	4	110	1	0	0	0	0	1	0	0	0	1581	681	24	3	436	3	BZW2	7	16725542	Missense_Mutation	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	11458709	16725542	142413121	20	8223											
ZAN	7455	broad.mit.edu	37	chr7	100349595	100349595	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaaacccaccattcccTcagaaaaacccaccatcctc	16	5	2	18	0	1	2	1	0	0	2	4	2	3	2	6	0	2	0	6	0	4	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr7:100349595T>A	ENST00000348028.3	+	0	2032				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_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)			CACCATTCCCTCAGAAAAACC	0.473																																					.													ZAN_ENST00000542585,NS,carcinoma,-1,2	ZAN	658	2	0			.												243	272	263					7																	100349595		1859	4103	5962			7455	.			ATTCCCTCAGAAA	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.100349595T>A			129	0	0		160	0.04	6	.	8	0	0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	t	2.503	-0.314727	0.05422	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58797	0.31;0.31;0.31	2.67	-4.12	0.03916	.	.	.	.	.	T	0.23611	0.0571	N	0.02736	-0.51	0.22693	N	0.998849	B;B	0.23735	0.0;0.09	B;B	0.20184	0.0;0.028	T	0.09487	-1.0672	9	0.29301	T	0.29	.	2.072	0.03615	0.4961:0.2633:0.0944:0.1463	.	623;623	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	623	ENSP00000445943:S623T;ENSP00000445091:S623T;ENSP00000444427:S623T	ENSP00000423579:S623T	S	+	1	0	ZAN	100187531	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.553000	0.06012	-1.415000	0.02022	-2.992000	0.00078	TCA			0.473	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000347214.1		NM_003386		A	100349595	T	A	100349595	1	1	110	0	1	0	0	0	0	0	0	0	17537	1551	54	5		5	ZAN	7	100349595	RNA	SNP	T	TCGA-XE-A8H4-01A-31D-A435-10	83624053	100349595	58789068	21	8224											
EZH2	2146	mdanderson.org	37	chr7	148529746	148529746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cataaaattctgctgtagggGagaccaagaatacattatgg	15	10	10	6	0	1	2	0	0	1	2	1	3	1	2	1	3	2	2	1	3	7	5			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr7:148529746G>T	ENST00000460911.1	-	4	431	c.343C>A	c.(343-345)Ccc>Acc	p.P115T	EZH2_ENST00000320356.2_Missense_Mutation_p.P115T|EZH2_ENST00000478654.1_Missense_Mutation_p.P106T|EZH2_ENST00000483967.1_Missense_Mutation_p.P106T|EZH2_ENST00000350995.2_Intron|EZH2_ENST00000536783.1_Missense_Mutation_p.P6T|EZH2_ENST00000476773.1_Missense_Mutation_p.P106T|EZH2_ENST00000541220.1_Missense_Mutation_p.P106T			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	115	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGCTGTAGGGGAGACCAAGAA	0.338			Mis		DLBCL																																p.P115T				Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	.			0			c.C343A												93	102	99					7																	148529746		2203	4300	6503	SO:0001583	missense	2146	exon4			GTAGGGGAGACCA		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.343C>A	7.37:g.148529746G>T	ENSP00000419711:p.Pro115Thr		28	0	0		45	0.07	3	NM_001203247	54	0	0	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161526	0.78226	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	M	0.86953	2.85	0.80722	D	1	P;P;P;P;B	0.50819	0.819;0.939;0.919;0.867;0.342	B;P;P;P;B	0.60949	0.412;0.796;0.881;0.611;0.217	D	0.95101	0.8230	10	0.72032	D	0.01	.	19.8041	0.96521	0.0:0.0:1.0:0.0	.	115;106;106;115;115	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-2	.;.;.;EZH2_HUMAN;.	T	106;115;115;106;106;106;6	ENSP00000417062:P106T;ENSP00000320147:P115T;ENSP00000419711:P115T;ENSP00000443219:P106T;ENSP00000419050:P106T;ENSP00000419856:P106T;ENSP00000439305:P6T	ENSP00000320147:P115T	P	-	1	0	EZH2	148160679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.556000	0.98127	2.748000	0.94277	0.591000	0.81541	CCC			0.338	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000352744.1		NM_004456		T	148529746	G	T	148529746	3	4	110	1	0	0	0	0	1	0	0	0	5341	1174	41	3	1980	3	EZH2	7	148529746	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	48180151	148529746	10608917	22	8225											
CHPF2	54480	broad.mit.edu	37	chr7	150935559	150935559	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctggaggggctggaggTgatggatgttttcctccggt	5	11	17	8	1	0	1	0	1	0	0	2	4	2	4	3	7	1	2	3	7	0	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr7:150935559T>G	ENST00000035307.2	+	4	3624	c.2111T>G	c.(2110-2112)gTg>gGg	p.V704G	RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.V696G	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	704					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)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GGGCTGGAGGTGATGGATGTT	0.647																																					p.V704G													.	CHPF2	52		0			c.T2111G												46	42	43					7																	150935559		2197	4298	6495	SO:0001583	missense	54480	exon4			TGGAGGTGATGGA	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.2111T>G	7.37:g.150935559T>G	ENSP00000035307:p.Val704Gly		104	0.0865384615	9		99	0.18	18	NM_019015	47	0.04	2	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946996	0.73672	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.19105	2.17;2.17	4.81	4.81	0.61882	.	0.059849	0.64402	D	0.000002	T	0.39279	0.1072	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71184	0.972;0.917	T	0.18935	-1.0321	10	0.66056	D	0.02	-22.7599	13.7365	0.62821	0.0:0.0:0.0:1.0	.	704;696	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	G	696;704	ENSP00000418914:V696G;ENSP00000035307:V704G	ENSP00000035307:V704G	V	+	2	0	CHPF2	150566492	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.956000	0.70315	2.018000	0.59344	0.533000	0.62120	GTG			0.647	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348648.2		NM_019015		G	150935559	T	G	150935559	3	3	110	1	0	0	0	0	1	0	0	0	3371	1696	59	4	2125	4	CHPF2	7	150935559	Missense_Mutation	SNP	T	TCGA-XE-A8H4-01A-31D-A435-10	2405813	150935559	8203104	23	8226											
BHLHE22	27319	mdanderson.org	37	chr8	65494205	65494205	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctccaagatcgccacgctGctgctcgccaagaactacat	10	8	7	16	3	1	2	0	0	1	2	4	2	1	2	3	0	4	3	3	0	4	1	rs543941490		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr8:65494205G>T	ENST00000321870.1	+	1	1392	c.858G>T	c.(856-858)ctG>ctT	p.L286L	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	286	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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						TCGCCACGCTGCTGCTCGCCA	0.667													G|||	1	0.000199681	0	0	5008	,	,		14296	0		0	False		,,,				2504	0.001				p.L286L	Colon(113;104 1586 2865 9855 18065)												.	.			0			c.G858T												27	25	25					8																	65494205		2203	4300	6503	SO:0001819	synonymous_variant	27319	exon1			CACGCTGCTGCTC	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.858G>T	8.37:g.65494205G>T			35	0	0		35	0.09	3	NM_152414	12	0	0		Silent	SNP	ENST00000321870.1	37	CCDS6179.1																																																																																					0.667	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378549.1		NM_152414		T	65494205	G	T	65494205	2	4	110	1	0	0	0	0	0	0	0	1	1421	1306	46	2		2	BHLHE22	8	65494205	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		65494205	80869817	24	8227											
PLEC	5339	mdanderson.org	37	chr8	144993686	144993686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtaggggtctctgtagcCggtgacggccttctcggcag	5	9	16	11	4	2	1	0	1	2	0	4	2	2	1	2	5	1	3	2	5	2	3	rs375044211		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr8:144993686C>T	ENST00000322810.4	-	32	10883	c.10714G>A	c.(10714-10716)Ggc>Agc	p.G3572S	PLEC_ENST00000354589.3_Missense_Mutation_p.G3435S|PLEC_ENST00000398774.2_Missense_Mutation_p.G3403S|PLEC_ENST00000345136.3_Missense_Mutation_p.G3435S|PLEC_ENST00000356346.3_Missense_Mutation_p.G3421S|PLEC_ENST00000436759.2_Missense_Mutation_p.G3462S|PLEC_ENST00000527096.1_Missense_Mutation_p.G3458S|PLEC_ENST00000357649.2_Missense_Mutation_p.G3439S|PLEC_ENST00000354958.2_Missense_Mutation_p.G3413S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3572	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						TCTCTGTAGCCGGTGACGGCC	0.677													C|||	1	0.000199681	8e-04	0	5008	,	,		16591	0		0	False		,,,				2504	0				p.G3572S													PLEC_ENST00000436759,right_upper_lobe,carcinoma,0,3	PLEC_ENST00000436759	0	3	0			c.G10714A							C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,3939		0,1,1969	37	44	41		10384,10261,10237,10714,10207,10303,10315,10303	5	0.9	8		41	0,8290		0,0,4145	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	56,56,56,56,56,56,56,56	0,1,6114	TT,TC,CC		0.0,0.0254,0.0082	benign,benign,benign,benign,benign,benign,benign,benign	3462/4575,3421/4534,3413/4526,3572/4685,3403/4516,3435/4548,3439/4552,3435/4548	144993686	1,12229	1970	4145	6115	SO:0001583	missense	5339	exon32			TGTAGCCGGTGAC	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.10714G>A	8.37:g.144993686C>T	ENSP00000323856:p.Gly3572Ser		15	0	0		27	0.11	3	NM_201380	197	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610402	0.28712	2.54E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.03	5.03	0.67393	.	0.000000	0.64402	U	0.000005	D	0.85630	0.5741	M	0.83223	2.63	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	0.87676	0.2544	10	0.87932	D	0	.	18.1723	0.89749	0.0:1.0:0.0:0.0	.	3462;3421;3413;3572;3403;3435;3439;3435	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3435;3439;3435;3403;3572;3413;3421;3462;3458	ENSP00000344848:G3435S;ENSP00000350277:G3439S;ENSP00000346602:G3435S;ENSP00000381756:G3403S;ENSP00000323856:G3572S;ENSP00000347044:G3413S;ENSP00000348702:G3421S;ENSP00000388180:G3462S;ENSP00000434583:G3458S	ENSP00000323856:G3572S	G	-	1	0	PLEC	145065674	1.000000	0.71417	0.932000	0.37286	0.027000	0.11550	7.604000	0.82830	2.613000	0.88420	0.448000	0.29417	GGC			0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		T	144993686	C	T	144993686	3	4	110	1	0	0	0	0	1	0	0	0	12069	652	23	1	3344	1	PLEC	8	144993686	Missense_Mutation	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	79499481	144993686	1370336	25	8228											
GNAQ	2776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	80430592	80430592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagcattcctggattccaGgatcattccataaactcttt	11	14	5	11	0	2	0	1	0	1	0	5	2	5	2	3	2	2	1	3	2	3	6			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr9:80430592G>C	ENST00000286548.4	-	3	638	c.416C>G	c.(415-417)cCt>cGt	p.P139R	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	139					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTGGATTCCAGGATCATTCCA	0.388			Mis		uveal melanoma																																p.P139R				Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	.	.			0			c.C416G												122	109	113					9																	80430592		2203	4297	6500	SO:0001583	missense	2776	exon3			ATTCCAGGATCAT		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.416C>G	9.37:g.80430592G>C	ENSP00000286548:p.Pro139Arg		109	0	0		83	0.41	34	NM_002072	45	0.69	31	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106551	0.56291	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.90444	-2.67;-2.67	6.01	6.01	0.97437	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	L	0.41906	1.305	0.80722	D	1	B	0.12013	0.005	B	0.17433	0.018	T	0.81562	-0.0876	10	0.33141	T	0.24	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	139	P50148	GNAQ_HUMAN	R	139;110	ENSP00000286548:P139R;ENSP00000391501:P110R	ENSP00000286548:P139R	P	-	2	0	GNAQ	79620412	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.898000	0.87363	2.861000	0.98227	0.650000	0.86243	CCT			0.388	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052761.1		NM_002072		C	80430592	G	C	80430592	3	2	110	1	0	0	0	0	1	0	0	0	6523	1000	35	5	683	5	GNAQ	9	80430592	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		80430592	60782839	26	8229											
ROR2	4920	mdanderson.org	37	chr9	94486405	94486405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagggcggggccttctGcttgggccccacgtagcggg	4	7	19	11	3	1	0	0	0	1	0	1	1	1	1	3	6	2	2	3	6	2	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr9:94486405G>T	ENST00000375708.3	-	9	2569	c.2371C>A	c.(2371-2373)Cag>Aag	p.Q791K	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	791	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCCTTCTGCTTGGGCCCC	0.672																																					p.Q791K													.	.			0			c.C2371A												51	56	54					9																	94486405		2203	4300	6503	SO:0001583	missense	4920	exon9			CCTTCTGCTTGGG	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2371C>A	9.37:g.94486405G>T	ENSP00000364860:p.Gln791Lys		34	0	0		34	0.09	3	NM_004560	29	0	0	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.039967	0.19669	.	.	ENSG00000169071	ENST00000375708	T	0.76709	-1.04	4.65	4.65	0.58169	.	0.183051	0.26324	N	0.025038	T	0.64216	0.2578	N	0.14661	0.345	0.25760	N	0.984953	B	0.02656	0.0	B	0.01281	0.0	T	0.51012	-0.8759	10	0.28530	T	0.3	.	17.7513	0.88435	0.0:0.0:1.0:0.0	.	791	Q01974	ROR2_HUMAN	K	791	ENSP00000364860:Q791K	ENSP00000364860:Q791K	Q	-	1	0	ROR2	93526226	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.226000	0.78060	2.415000	0.81967	0.561000	0.74099	CAG			0.672	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053040.1				T	94486405	G	T	94486405	3	4	110	1	0	0	0	0	1	0	0	0	13550	1328	46	2	464	2	ROR2	9	94486405	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	14055813	94486405	46727026	27	8230											
C10orf140	387640	broad.mit.edu	37	chr10	21805483	21805483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccctcctcctcctcttcCtcctcctcctcctctccctc	0	13	0	28	0	2	0	0	0	2	0	12	0	10	0	12	0	0	0	12	0	0	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr10:21805483C>T	ENST00000449193.2	-	4	3521	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	SKIDA1_ENST00000444772.3_Silent_p.E344E|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	342						nucleus (GO:0005634)											cctcctcttcctcctcctcct	0.627																																					p.E423E													.	.			0			c.G1269A												5	6	6					10																	21805483		2007	4123	6130	SO:0001819	synonymous_variant	387640	exon4			CTCTTCCTCCTCC	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.1269G>A	10.37:g.21805483C>T			56	0	0		49	0.08	4	NM_207371	0		0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.627	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		T	21805483	C	T	21805483	2	4	110	1	0	0	0	0	0	0	0	1	1597	680	24	3		3	C10orf140	10	21805483	Silent	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10		21805483	113729264	28	8231											
RET	5979	mdanderson.org	37	chr10	43596103	43596103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactggatctgcatccaggaGgacaccggcctcctctacct	9	8	9	15	1	2	0	0	0	2	0	4	3	4	3	5	4	3	1	5	4	2	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr10:43596103G>T	ENST00000355710.3	+	2	502	c.270G>T	c.(268-270)gaG>gaT	p.E90D	RET_ENST00000340058.5_Missense_Mutation_p.E90D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	90					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)	GCATCCAGGAGGACACCGGCC	0.647		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																												p.E90D	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	.	.			0			c.G270T												53	43	46					10																	43596103		2203	4300	6503	SO:0001583	missense	5979	exon2	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	CCAGGAGGACACC	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.270G>T	10.37:g.43596103G>T	ENSP00000347942:p.Glu90Asp		51	0	0		45	0.07	3	NM_020975	23	0	0	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918539	0.52546	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80393	-1.25;-1.37	5.51	3.42	0.39159	.	0.302273	0.35838	N	0.002952	T	0.75729	0.3889	M	0.68952	2.095	0.40170	D	0.97716	B;B	0.25850	0.098;0.136	B;B	0.20184	0.026;0.028	T	0.75022	-0.3464	10	0.51188	T	0.08	.	9.4049	0.38455	0.2557:0.0:0.7443:0.0	.	90;90	P07949;P07949-2	RET_HUMAN;.	D	90	ENSP00000347942:E90D;ENSP00000344798:E90D	ENSP00000344798:E90D	E	+	3	2	RET	42916109	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.322000	0.33689	1.340000	0.45581	0.655000	0.94253	GAG			0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047694.2		NM_020975		T	43596103	G	T	43596103	3	4	110	1	0	0	0	0	1	0	0	0	13258	991	35	3	276	3	RET	10	43596103	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	21790620	43596103	91938644	29	8232											
SORCS1	114815	mdanderson.org	37	chr10	108469042	108469042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaatgtagcctggaaaaGgctgattcctgttggcctct	8	12	12	9	0	2	1	1	1	1	0	3	2	3	2	3	4	1	3	3	4	4	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr10:108469042G>T	ENST00000263054.6	-	7	1089	c.1082C>A	c.(1081-1083)cCt>cAt	p.P361H	SORCS1_ENST00000344440.6_Missense_Mutation_p.P361H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	361					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCCTGGAAAAGGCTGATTCCT	0.403																																					p.P361H													.	.			0			c.C1082A												126	117	120					10																	108469042		2203	4300	6503	SO:0001583	missense	114815	exon7			GGAAAAGGCTGAT	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1082C>A	10.37:g.108469042G>T	ENSP00000263054:p.Pro361His		66	0	0		53	0.06	3	NM_001206572	0		0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548698	0.86127	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.36520	1.25;1.25	5.71	5.71	0.89125	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.77820	2.39	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	0.993;0.998;0.998;0.993;0.998	T	0.62882	-0.6760	9	.	.	.	-14.8856	19.8673	0.96808	0.0:0.0:1.0:0.0	.	361;361;361;361;361	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	H	361	ENSP00000263054:P361H;ENSP00000345964:P361H	.	P	-	2	0	SORCS1	108459032	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	6.298000	0.72763	2.709000	0.92574	0.655000	0.94253	CCT			0.403	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050232.4		NM_052918		T	108469042	G	T	108469042	3	4	110	1	0	0	0	0	1	0	0	0	14953	1000	35	3	2738	3	SORCS1	10	108469042	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	64872939	108469042	27065705	30	8233											
MUC6	4588	bcgsc.ca	37	chr11	1017280	1017280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggaggtggagaaagatgGaacgtgagtgggaagtgtgg	13	6	20	2	1	0	3	0	1	0	2	0	7	0	6	0	6	1	0	0	6	4	0	rs199539548		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr11:1017280G>T	ENST00000421673.2	-	31	5571	c.5521C>A	c.(5521-5523)Cca>Aca	p.P1841T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1841	Approximate repeats.|Thr-rich.				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)		GAGAAAGATGGAACGTGAGTG	0.537																																					p.P1841T													.	MUC6	408		0			c.C5521A												652	616	628					11																	1017280		2199	4282	6481	SO:0001583	missense	4588	exon31			AAGATGGAACGTG	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.5521C>A	11.37:g.1017280G>T	ENSP00000406861:p.Pro1841Thr		236	0.0169491525	4		200	0.09	17	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.317	0.616153	0.14129	.	.	ENSG00000184956	ENST00000421673	T	0.57595	0.39	3.21	-3.93	0.04143	.	.	.	.	.	T	0.56963	0.2021	M	0.68317	2.08	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50092	-0.8868	9	0.16420	T	0.52	.	1.0186	0.01513	0.1779:0.254:0.3105:0.2576	.	1841	Q6W4X9	MUC6_HUMAN	T	1841	ENSP00000406861:P1841T	ENSP00000406861:P1841T	P	-	1	0	MUC6	1007280	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.710000	0.05024	-1.011000	0.03391	0.313000	0.20887	CCA			0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		T	1017280	G	T	1017280	3	4	110	1	0	0	0	0	1	0	0	0	9996	1174	41	3	1810	3	MUC6	11	1017280	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		1017280	133989236	31	8234											
MUC2	4583	hgsc.bcm.edu	37	chr11	1092602	1092619	+	In_Frame_Del	DEL	CCACCACTCCCAGCCCTC	CCACCACTCCCAGCCCTC	-																															caccactcccagccctccaaCcaccactcccagccctccaa																								rs201595190|rs201608750|rs547682241	byFrequency	TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	CCACCACTCCCAGCCCTC	CCACCACTCCCAGCCCTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr11:1092602_1092619delCCACCACTCCCAGCCCTC	ENST00000441003.2	+	30	4448_4465	c.4421_4438delCCACCACTCCCAGCCCTC	c.(4420-4440)accaccactcccagccctcca>aca	p.TTPSPP1475del	MUC2_ENST00000359061.5_In_Frame_Del_p.TTPSPP1476del|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4210	Approximate repeats.				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)	agccctccaaccaccactcccagccctccaaccaccac	0.628																																					p.1474_1479del													.	MUC2	614		0			c.4420_4437del									764,1992		44,676,658						-2.6	0		dbSNP_134	244	1546,3660		46,1454,1103	no	coding	MUC2	NM_002457.2		90,2130,1761	A1A1,A1R,RR		29.6965,27.7213,29.0128				2310,5652				SO:0001651	inframe_deletion	4583	exon30			CTCCAACCACCAC	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.4421_4438delCCACCACTCCCAGCCCTC	11.37:g.1092602_1092619delCCACCACTCCCAGCCCTC	ENSP00000415183:p.Thr1475_Pro1480del		126	0	0		98	0	0	NM_002457	0		0	Q14878	In_Frame_Del	DEL	ENST00000441003.2	37																																																																																						0.628	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		-	1092619	CCACCACTCCCAGCCCTC	-	1092602	7	5	110	1	0	1	0	1	0	0	0	0	9991	507	18	0	4539	0	MUC2	11	1092602	In_Frame_Del	DEL	CCACCACTCCCAGCCCTC	TCGA-XE-A8H4-01A-31D-A435-10	75322	1092602	133913914	32	8235											
LSP1	4046	mdanderson.org	37	chr11	1901421	1901421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggacgaggagggaggcgGccatgtccccgagcggccga	8	2	18	13	5	0	0	0	0	0	0	1	6	1	3	5	6	1	0	5	6	0	0	rs558867326		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr11:1901421G>A	ENST00000311604.3	+	2	333	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LSP1_ENST00000406638.2_5'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.G181D|LSP1_ENST00000405957.2_5'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	53					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)		GAGGGAGGCGGCCATGTCCCC	0.662													G|||	1	0.000199681	0	0	5008	,	,		17691	0		0	False		,,,				2504	0.001				p.G181D													.	.			0			c.G542A												72	57	62					11																	1901421		2201	4299	6500	SO:0001583	missense	4046	exon3			GAGGCGGCCATGT	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.158G>A	11.37:g.1901421G>A	ENSP00000308383:p.Gly53Asp		52	0	0		43	0.07	3	NM_001242932	594	0	0	B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.763549	0.31228	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000457279;ENST00000429923;ENST00000418975	T;T;T;T;T	0.50813	1.93;1.86;1.93;1.28;0.73	3.75	2.79	0.32731	.	0.212335	0.22290	U	0.062013	T	0.33177	0.0854	L	0.44542	1.39	0.28790	N	0.899372	B;B	0.21225	0.053;0.002	B;B	0.14023	0.01;0.003	T	0.16600	-1.0397	10	0.19147	T	0.46	-0.3837	6.5185	0.22262	0.146:0.0:0.854:0.0	.	181;53	E9PFP3;P33241	.;LSP1_HUMAN	D	53;181;44;36;71	ENSP00000308383:G53D;ENSP00000371194:G181D;ENSP00000400346:G44D;ENSP00000400999:G36D;ENSP00000403460:G71D	ENSP00000308383:G53D	G	+	2	0	LSP1	1857997	0.001000	0.12720	0.032000	0.17829	0.003000	0.03518	0.270000	0.18607	0.867000	0.35654	0.491000	0.48974	GGC			0.662	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000034045.3		NM_002339		A	1901421	G	A	1901421	3	1	110	1	0	0	0	0	1	0	0	0	9079	1203	42	2	164	2	LSP1	11	1901421	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	808819	1901421	133105095	33	8236											
TAF6L	10629	mdanderson.org	37	chr11	62545499	62545499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcccatgcgccccgccaGggagggtgaactctactttc	7	8	11	15	2	1	1	0	1	1	0	2	2	1	2	4	2	4	0	4	2	2	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr11:62545499G>T	ENST00000294168.3	+	4	485	c.284G>T	c.(283-285)aGg>aTg	p.R95M	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	95					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						CGCCCCGCCAGGGAGGGTGAA	0.592																																					p.R95M													.	.			0			c.G284T												87	79	82					11																	62545499		2201	4299	6500	SO:0001583	missense	10629	exon4			CCGCCAGGGAGGG	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.284G>T	11.37:g.62545499G>T	ENSP00000294168:p.Arg95Met		74	0	0		43	0.07	3	NM_006473	15	0	0	B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066028	0.55539	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.44482	0.92;0.93	5.78	4.87	0.63330	.	0.059637	0.64402	D	0.000003	T	0.19208	0.0461	N	0.08118	0	0.80722	D	1	P;B	0.36495	0.556;0.371	B;B	0.31016	0.123;0.061	T	0.04029	-1.0983	10	0.40728	T	0.16	-0.105	7.8759	0.29592	0.1698:0.0:0.8302:0.0	.	95;95	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	M	95	ENSP00000294168:R95M;ENSP00000434662:R95M	ENSP00000294168:R95M	R	+	2	0	TAF6L	62302075	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.876000	0.56115	2.740000	0.93945	0.455000	0.32223	AGG			0.592	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395352.1		NM_006473		T	62545499	G	T	62545499	3	4	110	1	0	0	0	0	1	0	0	0	15554	1000	35	3	294	3	TAF6L	11	62545499	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	60644078	62545499	72461017	34	8237											
SNX32	254122	mdanderson.org	37	chr11	65620365	65620365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatggacttcaagtcccGccgggtctcctcttttcgaa	6	12	9	14	3	4	0	2	0	2	0	7	2	5	1	3	2	0	1	3	2	2	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr11:65620365G>A	ENST00000308342.6	+	12	1519	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	365					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TTCAAGTCCCGCCGGGTCTCC	0.642																																					p.R365H													.	.			0			c.G1094A												84	90	88					11																	65620365		2201	4297	6498	SO:0001583	missense	254122	exon12			AGTCCCGCCGGGT	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1094G>A	11.37:g.65620365G>A	ENSP00000310620:p.Arg365His		92	0	0		52	0.06	3	NM_152760	0		0	Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995804	0.54147	.	.	ENSG00000172803	ENST00000308342	T	0.19250	2.16	4.19	2.26	0.28386	.	0.678099	0.12942	N	0.426533	T	0.24928	0.0605	M	0.78049	2.395	0.33195	D	0.551402	B	0.15141	0.012	B	0.13407	0.009	T	0.19386	-1.0307	10	0.72032	D	0.01	-7.3309	6.7482	0.23472	0.0971:0.0:0.728:0.1749	.	365	Q86XE0	SNX32_HUMAN	H	365	ENSP00000310620:R365H	ENSP00000310620:R365H	R	+	2	0	SNX32	65376941	0.107000	0.21998	0.175000	0.22980	0.993000	0.82548	2.243000	0.43115	0.396000	0.25283	0.561000	0.74099	CGC			0.642	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250295.3		NM_152760		A	65620365	G	A	65620365	3	1	110	1	0	0	0	0	1	0	0	0	14925	1087	38	1	1140	1	SNX32	11	65620365	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	3074866	65620365	69386151	35	8238											
BRMS1	25855	mdanderson.org	37	chr11	66108711	66108711	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaatcttgaggctccgctgCagccccccaaggggctccgt	6	7	12	16	3	1	1	0	1	1	0	3	2	3	1	5	3	2	4	5	3	2	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr11:66108711C>T	ENST00000359957.3	-	4	484	c.324G>A	c.(322-324)ctG>ctA	p.L108L	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Silent_p.L108L	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	108					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GGCTCCGCTGCAGCCCCCCAA	0.627																																					p.L108L	GBM(7;55 307 2662 20856 28942)												.	.			0			c.G324A												38	42	41					11																	66108711		2200	4295	6495	SO:0001819	synonymous_variant	25855	exon4			CCGCTGCAGCCCC	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.324G>A	11.37:g.66108711C>T			56	0	0		33	0.09	3	NM_015399	100	0	0	Q6IAI2	Silent	SNP	ENST00000359957.3	37	CCDS8135.1	.	.	.	.	.	.	.	.	.	.	C	8.370	0.835197	0.16820	.	.	ENSG00000174744	ENST00000524699	.	.	.	4.17	2.25	0.28309	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50825	-0.8782	4	.	.	.	-17.3769	8.6877	0.34247	0.0:0.8042:0.0:0.1958	.	.	.	.	T	71	.	.	A	-	1	0	BRMS1	65865287	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	0.835000	0.27531	0.506000	0.28125	-0.251000	0.11542	GCA			0.627	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392958.2		NM_015399		T	66108711	C	T	66108711	2	4	110	1	0	0	0	0	0	0	0	1	1518	697	25	2		2	BRMS1	11	66108711	Silent	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	488346	66108711	68897805	36	8239											
SAPS3	55291	mdanderson.org	37	chr11	68331885	68331885	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcttttcatgaactcctGctggagccacccaaggtagg	9	10	11	11	0	2	1	1	1	1	0	3	3	3	3	3	4	3	2	3	4	3	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr11:68331885G>T	ENST00000393800.2	+	9	1214	c.960G>T	c.(958-960)ctG>ctT	p.L320L	PPP6R3_ENST00000529710.1_Silent_p.L320L|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000524845.1_Silent_p.L320L|PPP6R3_ENST00000265637.4_Silent_p.L320L|PPP6R3_ENST00000265636.5_Silent_p.L320L|PPP6R3_ENST00000393799.2_Silent_p.L320L|PPP6R3_ENST00000393801.3_Silent_p.L320L|PPP6R3_ENST00000527403.2_Silent_p.L320L|PPP6R3_ENST00000524904.1_Silent_p.L320L	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	320					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						ATGAACTCCTGCTGGAGCCAC	0.493																																					p.L320L													.	.			0			c.G960T												105	104	104					11																	68331885		2200	4294	6494	SO:0001819	synonymous_variant	55291	exon9			ACTCCTGCTGGAG	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.960G>T	11.37:g.68331885G>T			68	0	0		40	0.08	3	NM_001164161	42	0	0	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	CCDS53672.1																																																																																					0.493	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395275.1		NM_018312		T	68331885	G	T	68331885	2	4	110	1	0	0	0	0	0	0	0	1	13861	1306	46	2		2	SAPS3	11	68331885	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	2223174	68331885	66674631	37	8240											
C11orf54	28970	bcgsc.ca	37	chr11	93492996	93492996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaagctcctttggtttGtctaccagtttttgtctcca	8	17	7	9	0	2	1	0	1	2	0	4	1	3	1	3	1	2	3	3	1	3	5			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr11:93492996G>T	ENST00000331239.4	+	8	925	c.746G>T	c.(745-747)tGt>tTt	p.C249F	C11orf54_ENST00000528099.1_Missense_Mutation_p.C249F|C11orf54_ENST00000528288.1_Missense_Mutation_p.C199F|C11orf54_ENST00000354421.3_Missense_Mutation_p.C249F|C11orf54_ENST00000540113.1_Missense_Mutation_p.C230F			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	249					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCTTTGGTTTGTCTACCAGTT	0.343																																					p.C199F													.	C11orf54	23		0			c.G596T												143	149	147					11																	93492996		2201	4298	6499	SO:0001583	missense	28970	exon7			TGGTTTGTCTACC	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.746G>T	11.37:g.93492996G>T	ENSP00000331209:p.Cys249Phe		65	0	0		45	0.09	4	NM_014039	17	0	0	A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37		.	.	.	.	.	.	.	.	.	.	G	19.27	3.795464	0.70452	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000524485;ENST00000533154	.	.	.	5.64	5.64	0.86602	Domain of unknown function DUF1907 (1);	0.045054	0.85682	D	0.000000	T	0.71888	0.3393	.	.	.	0.80722	D	1	P;B;P	0.49961	0.93;0.193;0.93	P;B;P	0.50231	0.635;0.168;0.635	T	0.73729	-0.3891	8	0.56958	D	0.05	-13.2992	19.7643	0.96334	0.0:0.0:1.0:0.0	.	249;199;249	Q9H0W9;Q9H0W9-3;A8K718	CK054_HUMAN;.;.	F	199;249;249;249;230;230;230;138	.	ENSP00000331209:C249F	C	+	2	0	C11orf54	93132644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.181000	0.77682	2.660000	0.90430	0.644000	0.83932	TGT			0.343	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000394671.1		NM_014039		T	93492996	G	T	93492996	3	4	110	1	0	0	0	0	1	0	0	0	1651	1377	48	3	618	3	C11orf54	11	93492996	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	25161111	93492996	41513520	38	8241											
THY1	7070	mdanderson.org	37	chr11	119291054	119291054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctctggtccactaggcagGccgttaggctggtcaccttc	5	10	13	13	1	2	0	1	0	1	0	4	0	3	0	3	6	0	4	3	6	2	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr11:119291054G>T	ENST00000284240.5	-	3	1119	c.80C>A	c.(79-81)gCc>gAc	p.A27D	USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000580275.1_Intron|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.A27D|USP2-AS1_ENST00000578923.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	27	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CACTAGGCAGGCCGTTAGGCT	0.612																																					p.A27D													THY1,NS,carcinoma,+1,1	THY1	1	1	0			c.C80A												87	81	83					11																	119291054		2199	4295	6494	SO:0001583	missense	7070	exon3			AGGCAGGCCGTTA	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.80C>A	11.37:g.119291054G>T	ENSP00000284240:p.Ala27Asp		56	0	0		43	0.07	3	NM_006288	249	0	0	Q16008|Q9NSP1	Missense_Mutation	SNP	ENST00000284240.5	37	CCDS8424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.265669|4.265669	0.80358|0.80358	.|.	.|.	ENSG00000154096|ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524970;ENST00000524659|ENST00000527590	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Immunoglobulin subtype (1);Immunoglobulin-like (1);|.	0.188235|.	0.46145|.	D|.	0.000301|.	T|T	0.75737|0.75737	0.3890|0.3890	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.76919|0.76919	-0.2781|-0.2781	9|5	0.87932|.	D|.	0|.	-17.2105|-17.2105	15.7374|15.7374	0.77856|0.77856	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	27|.	P04216|.	THY1_HUMAN|.	D|T	27|35	.|.	ENSP00000284240:A27D|.	A|P	-|-	2|1	0|0	THY1|THY1	118796264|118796264	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.829000|0.829000	0.46940|0.46940	6.015000|6.015000	0.70791|0.70791	2.380000|2.380000	0.81148|0.81148	0.591000|0.591000	0.81541|0.81541	GCC|CCT			0.612	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388370.2		NM_006288		T	119291054	G	T	119291054	3	4	110	1	0	0	0	0	1	0	0	0	15908	1203	42	2	413	2	THY1	11	119291054	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	25798058	119291054	15715462	39	8242											
WNK1	65125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	994308	994308	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgttgtttctagtacagcActgtatccttcagtaacagt	10	15	7	9	1	2	0	1	0	1	0	4	0	3	0	1	0	3	6	1	0	4	7			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr12:994308A>G	ENST00000315939.6	+	19	4981	c.4338A>G	c.(4336-4338)gcA>gcG	p.A1446A	WNK1_ENST00000535572.1_Silent_p.A1199A|WNK1_ENST00000530271.2_Silent_p.A1944A|WNK1_ENST00000340908.4_Silent_p.A1039A|WNK1_ENST00000537687.1_Silent_p.A1706A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1446					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)			CTAGTACAGCACTGTATCCTT	0.483																																					p.A1706A	Colon(19;451 567 6672 12618 28860)												.	.			0			c.A5118G												131	131	131					12																	994308		2203	4300	6503	SO:0001819	synonymous_variant	65125	exon19			TACAGCACTGTAT	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.4338A>G	12.37:g.994308A>G			130	0	0		188	0.24	46	NM_001184985	99	0.31	31	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	CCDS8506.1																																																																																					0.483	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206683.1		NM_018979		G	994308	A	G	994308	2	3	110	1	0	0	0	0	0	0	0	1	17401	146	6	4		4	WNK1	12	994308	Silent	SNP	A	TCGA-XE-A8H4-01A-31D-A435-10		994308	132857587	40	8243											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacctgtcttgtctttgCtgatgtttcaataaaaggaa	11	16	7	7	0	3	1	1	1	2	0	3	2	3	2	1	1	2	2	1	1	5	5	rs121913527		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr12:25378562C>T	ENST00000256078.4	-	4	499	c.436G>A	c.(436-438)Gca>Aca	p.A146T	KRAS_ENST00000311936.3_Missense_Mutation_p.A146T|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	146			A -> T (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.A146T(75)|p.A146P(7)	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)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.A146T	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,+1,137	KRAS_ENST00000256078	1	137	82	Substitution - Missense(82)	large_intestine(69)|haematopoietic_and_lymphoid_tissue(11)|lung(2)	c.G436A												207	188	195					12																	25378562		2203	4300	6503	SO:0001583	missense	3845	exon4	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	TCTTTGCTGATGT	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.436G>A	12.37:g.25378562C>T	ENSP00000256078:p.Ala146Thr		58	0	0		144	0.06	8	NM_004985	245	0.11	28	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234460	0.95207	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.96639	0.8903	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.76071	0.987;0.876	D	0.97524	1.0075	10	0.72032	D	0.01	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	T	146	ENSP00000308495:A146T;ENSP00000256078:A146T	ENSP00000256078:A146T	A	-	1	0	KRAS	25269829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.757000	0.94681	0.585000	0.79938	GCA			0.323	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360		T	25378562	C	T	25378562	3	4	110	1	0	0	0	0	1	0	0	0	8453	797	28	2	262	2	KRAS	12	25378562	Missense_Mutation	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	24384254	25378562	108473333	41	8244											
SSPN	8082	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	26383896	26383896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaatttggtctgcggcCttgtgtgcttgttggcctgc	2	18	12	9	1	2	0	0	0	2	0	2	0	2	0	2	3	3	2	2	3	1	6			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr12:26383896C>T	ENST00000242729.2	+	3	796	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	SSPN_ENST00000540266.1_Missense_Mutation_p.L104F|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.L104F|RP11-283G6.5_ENST00000541940.1_RNA|SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000540625.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	207					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GGTCTGCGGCCTTGTGTGCTT	0.507																																					p.L207F													.	.			0			c.C619T												197	175	183					12																	26383896		2203	4300	6503	SO:0001583	missense	8082	exon3			TGCGGCCTTGTGT	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"Kras oncogene-associated gene"	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.619C>T	12.37:g.26383896C>T	ENSP00000242729:p.Leu207Phe		62	0	0		131	0.07	9	NM_005086	7	0	0	B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675824	0.47781	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067	T;T;T;T	0.02472	4.28;4.28;4.28;4.28	4.81	1.83	0.25207	.	0.313381	0.29424	N	0.012183	T	0.02610	0.0079	L	0.34521	1.04	0.80722	D	1	P	0.35793	0.521	B	0.36719	0.231	T	0.55952	-0.8059	10	0.54805	T	0.06	-7.4369	6.4387	0.21837	0.2347:0.6116:0.0:0.1537	.	207	Q14714	SSPN_HUMAN	F	104;104;104;207;181	ENSP00000445360:L104F;ENSP00000442893:L104F;ENSP00000396087:L104F;ENSP00000242729:L207F	ENSP00000242729:L207F	L	+	1	0	SSPN	26275163	0.986000	0.35501	0.968000	0.41197	0.997000	0.91878	0.471000	0.22100	1.173000	0.42796	0.563000	0.77884	CTT			0.507	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402654.2		NM_005086		T	26383896	C	T	26383896	3	4	110	1	0	0	0	0	1	0	0	0	15211	681	24	3	629	3	SSPN	12	26383896	Missense_Mutation	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	1005334	26383896	107467999	42	8245											
ANKRD33	341405	mdanderson.org	37	chr12	52282494	52282494	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccccaggctgcaggctGggggccctgtattgggcctg	4	7	15	15	0	0	0	0	0	0	0	0	0	0	0	5	5	1	4	5	5	1	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr12:52282494G>T	ENST00000340970.4	+	0	258				ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000301190.6_Silent_p.L96L|ANKRD33_ENST00000538991.1_5'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCTGCAGGCTGGGGGCCCTGT	0.647																																					p.L96L													.	.			0			c.G288T												43	50	48					12																	52282494		2202	4300	6502	SO:0001623	5_prime_UTR_variant	341405	exon2			CAGGCTGGGGGCC		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.-114G>T	12.37:g.52282494G>T			53	0	0		51	0.06	3	NM_182608	0		0	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Silent	SNP	ENST00000340970.4	37	CCDS44892.1																																																																																					0.647	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404515.1		NM_182608		T	52282494	G	T	52282494	1	4	110	0	1	0	0	0	0	0	0	0	661	1335	47	3		3	ANKRD33	12	52282494	5'UTR	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	25898598	52282494	81569401	43	8246											
APAF1	317	broad.mit.edu	37	chr12	99056499	99056499	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttccttaggaaaggaaaaAggacttgaaattttatccct	15	12	8	6	0	0	1	0	1	0	0	2	4	2	4	2	3	0	1	2	3	6	5			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr12:99056499A>G	ENST00000551964.1	+	7	1606	c.870A>G	c.(868-870)aaA>aaG	p.K290K	APAF1_ENST00000547045.1_Silent_p.K290K|APAF1_ENST00000550527.1_Silent_p.K279K|APAF1_ENST00000333991.1_Silent_p.K290K|APAF1_ENST00000357310.1_Silent_p.K290K|APAF1_ENST00000549007.1_Silent_p.K290K|APAF1_ENST00000359972.2_Silent_p.K279K|APAF1_ENST00000552268.1_Silent_p.K290K|APAF1_ENST00000339433.3_Silent_p.K290K	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	290	NB-ARC.				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)	GAAAGGAAAAAGGACTTGAAA	0.313																																					p.K290K													.	APAF1	111		0			c.A870G												58	60	59					12																	99056499		2201	4299	6500	SO:0001819	synonymous_variant	317	exon7			GGAAAAAGGACTT	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.870A>G	12.37:g.99056499A>G			202	0.004950495	1		190	0.02	4	NM_181868	6	0	0	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	CCDS9069.1																																																																																					0.313	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408006.1		NM_181861.1		G	99056499	A	G	99056499	2	3	110	1	0	0	0	0	0	0	0	1	755	69	3	4		4	APAF1	12	99056499	Silent	SNP	A	TCGA-XE-A8H4-01A-31D-A435-10	46774005	99056499	34795396	44	8247											
MYL2	4633	mdanderson.org	37	chr12	111348947	111348947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtccaagttgccagtcacGtcaggggggaaggcggcgaa	10	6	16	9	3	2	0	2	0	0	0	3	2	3	1	2	5	1	1	2	5	4	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr12:111348947G>T	ENST00000228841.8	-	7	482	c.435C>A	c.(433-435)gaC>gaA	p.D145E	MYL2_ENST00000548438.1_Missense_Mutation_p.D131E	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	145	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)	p.D145D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TGCCAGTCACGTCAGGGGGGA	0.612																																					p.D145E	GBM(14;268 426 18829 21617 25540)												MYL2,NS,carcinoma,0,1	MYL2	0	1	1	Substitution - coding silent(1)	endometrium(1)	c.C435A												155	129	138					12																	111348947		2203	4300	6503	SO:0001583	missense	4633	exon7			AGTCACGTCAGGG		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"Myosins / Light chain", "EF-hand domain containing"	7583	protein-coding gene	gene with protein product	"cardiac ventricular myosin light chain 2"	160781	"myosin, light polypeptide 2, regulatory, cardiac, slow"			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.435C>A	12.37:g.111348947G>T	ENSP00000228841:p.Asp145Glu		65	0	0		48	0.06	3	NM_000432	0		0	Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560282	0.65538	.	.	ENSG00000111245	ENST00000228841;ENST00000548438	D;D	0.81908	-1.55;-1.55	4.95	-6.08	0.02151	EF-hand-like domain (1);	0.046467	0.85682	D	0.000000	D	0.89897	0.6848	M	0.84948	2.725	0.47407	D	0.999418	D	0.63046	0.992	D	0.87578	0.998	D	0.89619	0.3847	10	0.66056	D	0.02	.	17.4706	0.87645	0.1892:0.0:0.8108:0.0	.	145	P10916	MLRV_HUMAN	E	145;131	ENSP00000228841:D145E;ENSP00000447154:D131E	ENSP00000228841:D145E	D	-	3	2	MYL2	109833330	0.199000	0.23386	0.554000	0.28268	0.768000	0.43524	-0.376000	0.07465	-1.288000	0.02378	-1.079000	0.02226	GAC			0.612	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404677.2		NM_000432		T	111348947	G	T	111348947	3	4	110	1	0	0	0	0	1	0	0	0	10063	1136	40	1	69	1	MYL2	12	111348947	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	12292448	111348947	22502948	45	8248											
TUBA3C	7278	mdanderson.org	37	chr13	19751292	19751292	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggtaggccttctcggcTgagatgaccggggcgtaggt	5	10	17	9	4	1	2	0	2	1	1	3	3	1	2	2	6	0	3	2	6	2	3	rs147482964	byFrequency	TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr13:19751292T>C	ENST00000400113.3	-	4	935	c.831A>G	c.(829-831)tcA>tcG	p.S277S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	277					'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)		CCTTCTCGGCTGAGATGACCG	0.612																																					p.S277S													.	.			0			c.A831G												131	119	123					13																	19751292		2203	4300	6503	SO:0001819	synonymous_variant	7278	exon4			CTCGGCTGAGATG	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.831A>G	13.37:g.19751292T>C			109	0.0091743119	1		115	0.1	11	NM_006001	18	0	0	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			0.006		0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044007.2		NM_006001		C	19751292	T	C	19751292	2	2	110	1	0	0	0	0	0	0	0	1	16770	1567	55	4		4	TUBA3C	13	19751292	Silent	SNP	T	TCGA-XE-A8H4-01A-31D-A435-10		19751292	95418586	46	8249											
TPTE2	93492	bcgsc.ca	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	17	10	5	9	1	1	0	0	0	1	0	2	1	1	1	2	1	3	1	2	1	8	6	rs201542496		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					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)		CGTTCTAACATACTTTAGCCA	0.313																																					p.M41V													.	TPTE2	225		0			c.A121G												47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492	exon5			CTAACATACTTTA	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.120-1A>G	13.37:g.20056686T>C			507	0.0019723866	1		387	0.04	15	NM_199254	1	0	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG			0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_199254	Missense_Mutation	C	20056686	T	C	20056686	5	2	110	1	0	0	0	0	0	0	1	0	16455	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-XE-A8H4-01A-31D-A435-10	305394	20056686	95113192	47	8250											
FANCM	57697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	45618040	45618040	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttaattgatttcatatagGctgtgcaacaagttattact	13	16	6	6	0	1	1	1	1	0	0	1	1	1	1	0	1	3	3	0	1	7	7	rs141336758		TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr14:45618040G>T	ENST00000267430.5	+	4	845	c.760G>T	c.(760-762)Gct>Tct	p.A254S	FANCM_ENST00000556036.1_Splice_Site_p.A254S|FANCM_ENST00000542564.2_Splice_Site_p.A228S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	254	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TTTCATATAGGCTGTGCAACA	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.A254S													FANCM,NS,carcinoma,-1,1	FANCM	-1	1	0			c.G760T												54	55	55					14																	45618040		2203	4300	6503	SO:0001630	splice_region_variant	57697	exon4	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ATATAGGCTGTGC	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.760-1G>T	14.37:g.45618040G>T			74	0	0		71	0.14	10	NM_020937	1	1	1	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118766	0.37436	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.14893	2.47;2.47;2.49	5.75	4.8	0.61643	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.059831	0.64402	D	0.000002	T	0.13243	0.0321	N	0.16478	0.41	0.45946	D	0.998772	B;B;B	0.32968	0.392;0.392;0.04	B;B;B	0.40982	0.345;0.345;0.036	T	0.15607	-1.0431	9	.	.	.	.	11.4643	0.50230	0.0:0.0:0.7193:0.2806	.	228;254;254	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	S	254;254;228	ENSP00000450596:A254S;ENSP00000267430:A254S;ENSP00000442493:A228S	.	A	+	1	0	FANCM	44687790	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.676000	0.46883	2.866000	0.98385	0.650000	0.86243	GCT			0.289	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000410474.1		XM_048128	Missense_Mutation	T	45618040	G	T	45618040	5	4	110	1	0	0	0	0	0	0	1	0	5684	1217	42	2	774	2	FANCM	14	45618040	Splice_Site	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		45618040	61731500	48	8251											
ZBTB1	22890	mdanderson.org	37	chr14	64998614	64998614	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaacctgtggagaagtGagagatctgaatttggagag	13	11	13	4	0	2	5	0	2	2	3	2	8	2	5	1	2	1	0	1	2	4	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr14:64998614G>T	ENST00000358738.3	+	3	2325	c.1934G>T	c.(1933-1935)tGa>tTa	p.*645L	RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	0					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GTGGAGAAGTGAGAGATCTGA	0.388																																					p.X645L													.	.			0			c.G1934T												161	153	156					14																	64998614		2203	4300	6503	SO:0001578	stop_lost	22890	exon3			AGAAGTGAGAGAT	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000358738.3:c.1934G>T	14.37:g.64998614G>T	ENSP00000351587:p.*645Leuext*3		92	0	0		110	0.05	5	NM_014950	3	0	0	A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000358738.3	37	CCDS32097.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972478	0.53614	.	.	ENSG00000126804	ENST00000358738	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4282	0.87532	0.0:0.0:1.0:0.0	.	.	.	.	L	645	.	.	X	+	2	2	ZBTB1	64068367	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.750000	0.62162	2.793000	0.96121	0.563000	0.77884	TGA			0.388	ZBTB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000411913.1				T	64998614	G	T	64998614	4	4	110	1	0	0	0	0	0	0	0	0	17545	1285	45	3	2184	3	ZBTB1	14	64998614	Nonstop_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	19380574	64998614	42350926	49	8252											
TLN2	83660	mdanderson.org	37	chr15	62994394	62994394	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtgcagcctacttctGgagaggtaagctccagaggc	10	8	13	10	0	1	2	0	0	1	2	2	3	2	2	2	3	5	4	2	3	3	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr15:62994394G>T	ENST00000561311.1	+	17	2130	c.1900G>T	c.(1900-1902)Gga>Tga	p.G634*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.G634*			Q9Y4G6	TLN2_HUMAN	talin 2	634					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						GCCTACTTCTGGAGAGGTAAG	0.597																																					p.G634X													.	.			0			c.G1900T												37	35	36					15																	62994394		2201	4299	6500	SO:0001587	stop_gained	83660	exon15			ACTTCTGGAGAGG	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.1900G>T	15.37:g.62994394G>T	ENSP00000453508:p.Gly634*		50	0	0		43	0.07	3	NM_015059	17	0	0	A6NLB8	Nonsense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	41	8.690017	0.98916	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.74	5.74	0.90152	.	0.147185	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-12.7762	20.2825	0.98528	0.0:0.0:1.0:0.0	.	.	.	.	X	634	.	ENSP00000303476:G634X	G	+	1	0	TLN2	60781686	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	8.009000	0.88606	2.873000	0.98535	0.561000	0.74099	GGA			0.597	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257878.2				T	62994394	G	T	62994394	4	4	110	1	0	0	0	0	0	1	0	0	15971	1349	47	3	1958	3	TLN2	15	62994394	Nonsense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		62994394	39536998	50	8253											
TMEM8A	58986	mdanderson.org	37	chr16	422283	422283	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggtgcccgcagcggtaagCctggagaaaacagccacgca	11	3	13	14	4	0	1	0	0	0	1	0	2	0	1	4	3	5	3	4	3	3	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr16:422283C>T	ENST00000431232.2	-	13	2180	c.2020G>A	c.(2020-2022)Gct>Act	p.A674T	MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000389675.2_5'Flank|MRPL28_ENST00000429738.1_5'Flank|TMEM8A_ENST00000250930.3_Splice_Site_p.A481T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	674					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CAGCGGTAAGCCTGGAGAAAA	0.687																																					p.A674T													.	.			0			c.G2020A												23	23	23					16																	422283		2186	4296	6482	SO:0001630	splice_region_variant	58986	exon13			GGTAAGCCTGGAG	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2020-1G>A	16.37:g.422283C>T			25	0	0		20	0.1	2	NM_021259	98	0	0	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	1.234	-0.623234	0.03636	.	.	ENSG00000129925	ENST00000431232;ENST00000250930;ENST00000382942	T;T	0.42513	0.97;0.97	4.18	2.18	0.27775	.	0.653849	0.13867	N	0.357266	T	0.10766	0.0263	N	0.00368	-1.59	0.23107	N	0.998282	B	0.15719	0.014	B	0.17979	0.02	T	0.33445	-0.9868	10	0.05959	T	0.93	-1.056	9.8992	0.41338	0.0:0.7478:0.0:0.2522	.	674	Q9HCN3	TMM8A_HUMAN	T	674;481;162	ENSP00000401338:A674T;ENSP00000250930:A481T	ENSP00000250930:A481T	A	-	1	0	TMEM8A	362284	0.989000	0.36119	0.919000	0.36401	0.039000	0.13416	1.933000	0.40153	0.079000	0.16929	-1.644000	0.00765	GCT			0.687	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000109257.2		NM_021259	Missense_Mutation	T	422283	C	T	422283	5	4	110	1	0	0	0	0	0	0	1	0	16237	753	26	2	299	2	TMEM8A	16	422283	Splice_Site	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10		422283	89932470	51	8254											
PIGQ	9091	mdanderson.org	37	chr16	626176	626176	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgctggacgtggccctGggcctcatgctgctgtcctg	2	11	15	13	1	1	0	1	0	0	0	2	1	2	1	3	3	4	4	3	3	0	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr16:626176G>T	ENST00000026218.5	+	4	952	c.864G>T	c.(862-864)ctG>ctT	p.L288L	PIGQ_ENST00000321878.5_Silent_p.L288L|PIGQ_ENST00000470411.2_3'UTR|PIGQ_ENST00000409527.2_Silent_p.L288L	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	288	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				ACGTGGCCCTGGGCCTCATGC	0.701																																					p.L288L													.	.			0			c.G864T												33	30	31					16																	626176		2087	4114	6201	SO:0001819	synonymous_variant	9091	exon4			GGCCCTGGGCCTC	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.864G>T	16.37:g.626176G>T			30	0	0		36	0.08	3	NM_148920	41	0	0	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	ENST00000026218.5	37	CCDS10411.1																																																																																					0.701	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000239270.2		NM_004204		T	626176	G	T	626176	2	4	110	1	0	0	0	0	0	0	0	1	11913	1335	47	3		3	PIGQ	16	626176	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	203893	626176	89728577	52	8255											
KIAA0430	9665	mdanderson.org	37	chr16	15692880	15692880	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgctctgtgtgactgggCcctgggcaaacaaggagggc	7	8	15	11	0	1	1	0	1	1	0	2	2	2	2	2	4	2	2	2	4	2	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr16:15692880C>T	ENST00000396368.3	-	26	5021	c.4815G>A	c.(4813-4815)ggG>ggA	p.G1605G	KIAA0430_ENST00000551742.1_Splice_Site_p.G1605G|KIAA0430_ENST00000540441.2_Splice_Site_p.G1440G|KIAA0430_ENST00000344181.3_Splice_Site_p.G1293G|KIAA0430_ENST00000548025.1_Splice_Site_p.G1602G|KIAA0430_ENST00000602337.1_Splice_Site_p.G1602G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1605					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGTGACTGGGCCCTGGGCAAA	0.637																																					p.G1605G													.	.			0			c.G4815A												31	37	35					16																	15692880		2025	4164	6189	SO:0001630	splice_region_variant	9665	exon26			ACTGGGCCCTGGG	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4814-1G>A	16.37:g.15692880C>T			23	0	0		35	0.09	3	NM_001184998	46	0	0	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	CCDS10562.2																																																																																					0.637	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252131.2		NM_014647	Silent	T	15692880	C	T	15692880	5	4	110	1	0	0	0	0	0	0	1	0	8192	753	26	2	421	2	KIAA0430	16	15692880	Splice_Site	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	15066704	15692880	74661873	53	8256											
BCL7C	9274	mdanderson.org	37	chr16	30904221	30904221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggcgcccctgccccgacGttcccggccacgggatctct	4	7	11	19	5	1	0	0	0	1	0	3	2	2	1	6	3	1	1	6	3	0	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr16:30904221G>T	ENST00000215115.4	-	3	1235	c.220C>A	c.(220-222)Cgt>Agt	p.R74S	MIR762_ENST00000390236.1_RNA|BCL7C_ENST00000380317.4_Missense_Mutation_p.R74S|MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000570025.1_RNA|MIR4519_ENST00000565573.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	74					apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			CTGCCCCGACGTTCCCGGCCA	0.657																																					p.R74S													.	.			0			c.C220A												43	54	50					16																	30904221		2194	4297	6491	SO:0001583	missense	9274	exon3			CCCGACGTTCCCG	AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.220C>A	16.37:g.30904221G>T	ENSP00000215115:p.Arg74Ser		42	0	0		27	0.11	3	NM_004765	171	0	0	O43770|Q6PD89	Missense_Mutation	SNP	ENST00000215115.4	37	CCDS10693.1	.	.	.	.	.	.	.	.	.	.	G	9.549	1.115336	0.20795	.	.	ENSG00000099385	ENST00000380317;ENST00000215115	T;T	0.43688	0.94;0.96	5.08	2.96	0.34315	.	0.260958	0.26432	N	0.024410	T	0.30759	0.0775	L	0.47716	1.5	0.29692	N	0.840877	P;P	0.45768	0.625;0.866	B;B	0.43274	0.17;0.414	T	0.17501	-1.0367	10	0.09338	T	0.73	-23.9961	6.1263	0.20182	0.0968:0.0:0.6669:0.2363	.	74;74	Q8WUZ0;Q8WUZ0-2	BCL7C_HUMAN;.	S	74	ENSP00000369674:R74S;ENSP00000215115:R74S	ENSP00000215115:R74S	R	-	1	0	BCL7C	30811722	0.988000	0.35896	0.967000	0.41034	0.982000	0.71751	1.553000	0.36255	0.498000	0.27948	0.561000	0.74099	CGT			0.657	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255547.3		NM_004765		T	30904221	G	T	30904221	3	4	110	1	0	0	0	0	1	0	0	0	1380	1145	40	1	449	1	BCL7C	16	30904221	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	15211341	30904221	59450532	54	8257											
NRN1L	123904	ucsc.edu;bcgsc.ca	37	chr16	67918828	67918828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcgctgctgccgccgcCgctgctgctgccggcaacca	4	7	13	17	5	0	1	0	1	0	0	0	1	0	1	5	1	7	6	5	1	1	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr16:67918828C>T	ENST00000339176.3	+	1	121	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	NRN1L_ENST00000576147.1_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	8					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CTGCCGCCGCCGCTGCTGCTG	0.721																																					p.R8C													.	NRN1L	13		0			c.C22T												22	25	24					16																	67918828		2123	4215	6338	SO:0001583	missense	123904	exon1			CGCCGCCGCTGCT	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.22C>T	16.37:g.67918828C>T	ENSP00000342411:p.Arg8Cys		22	0	0		22	0.18	4	NM_198443	29	0	0	Q6UWH7	Missense_Mutation	SNP	ENST00000339176.3	37	CCDS10850.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350829	0.41599	.	.	ENSG00000188038	ENST00000339176	.	.	.	4.79	-3.66	0.04489	.	1.412650	0.04618	N	0.401574	T	0.16642	0.0400	N	0.01705	-0.755	0.20196	N	0.999929	B	0.06786	0.001	B	0.04013	0.001	T	0.35276	-0.9795	9	0.87932	D	0	.	11.7331	0.51748	0.0:0.6868:0.0:0.3132	.	8	Q496H8	NRN1L_HUMAN	C	8	.	ENSP00000342411:R8C	R	+	1	0	NRN1L	66476329	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.305000	0.08188	-0.606000	0.05746	-0.672000	0.03802	CGC			0.721	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000268872.2		NM_198443		T	67918828	C	T	67918828	3	4	110	1	0	0	0	0	1	0	0	0	10676	652	23	1	24	1	NRN1L	16	67918828	Missense_Mutation	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	37014607	67918828	22435925	55	8258											
TMED6	146456	mdanderson.org	37	chr16	69377514	69377514	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtatcgccacatgtgaaaGatattgttctgcaccttttg	10	15	8	8	1	1	2	0	1	1	1	2	2	1	2	2	0	1	3	2	0	4	7			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr16:69377514G>T	ENST00000288025.3	-	4	574	c.519C>A	c.(517-519)atC>atA	p.I173I	RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	173					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ACATGTGAAAGATATTGTTCT	0.458																																					p.I173I													.	.			0			c.C519A												136	130	132					16																	69377514		2198	4300	6498	SO:0001819	synonymous_variant	146456	exon4			GTGAAAGATATTG	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.519C>A	16.37:g.69377514G>T			86	0	0		85	0.06	5	NM_144676	6	0	0	Q6UXN5	Silent	SNP	ENST00000288025.3	37	CCDS10878.1																																																																																					0.458	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268951.1		NM_144676		T	69377514	G	T	69377514	2	4	110	1	0	0	0	0	0	0	0	1	16031	932	33	3		3	TMED6	16	69377514	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	1458686	69377514	20977239	56	8259											
CDYL2	124359	mdanderson.org	37	chr16	80638332	80638332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgaaaagggagtcaaGgcctttggaggagctccaga	12	7	15	7	0	1	2	1	1	0	1	2	5	2	5	2	4	2	3	2	4	4	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr16:80638332G>T	ENST00000570137.2	-	7	1629	c.1474C>A	c.(1474-1476)Ctt>Att	p.L492I	CDYL2_ENST00000562812.1_Missense_Mutation_p.L493I|CDYL2_ENST00000563890.1_Missense_Mutation_p.L493I|CDYL2_ENST00000566173.1_Missense_Mutation_p.L493I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	492						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						AGGGAGTCAAGGCCTTTGGAG	0.547																																					p.L492I													.	.			0			c.C1474A												115	111	112					16																	80638332		2203	4300	6503	SO:0001583	missense	124359	exon7			AGTCAAGGCCTTT	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.1474C>A	16.37:g.80638332G>T	ENSP00000476295:p.Leu492Ile		42	0	0		41	0.07	3	NM_152342	12	0	0	Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.757034	0.31137	.	.	ENSG00000166446	ENST00000299564	T	0.56611	0.45	5.19	4.22	0.49857	.	0.000000	0.64402	D	0.000003	T	0.33644	0.0870	N	0.05554	-0.025	0.50313	D	0.999867	P	0.37370	0.592	B	0.41135	0.348	T	0.10177	-1.0641	10	0.14656	T	0.56	.	13.4315	0.61057	0.0771:0.0:0.9229:0.0	.	492	Q8N8U2	CDYL2_HUMAN	I	492	ENSP00000299564:L492I	ENSP00000299564:L492I	L	-	1	0	CDYL2	79195833	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.581000	0.53914	2.717000	0.92951	0.650000	0.86243	CTT			0.547	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434727.2		NM_152342		T	80638332	G	T	80638332	3	4	110	1	0	0	0	0	1	0	0	0	3188	1000	35	3	50	3	CDYL2	16	80638332	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	11260818	80638332	9716421	57	8260											
BANP	54971	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	88068971	88068971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgcccaggtgccgcaggggGagcaagtccagatcacgcag	9	4	15	13	3	1	1	1	0	0	1	3	2	2	2	3	3	2	3	3	3	1	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr16:88068971G>C	ENST00000393207.1	+	10	1431	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	BANP_ENST00000538234.1_Missense_Mutation_p.E415Q|BANP_ENST00000355022.4_Missense_Mutation_p.E376Q|BANP_ENST00000479780.2_Missense_Mutation_p.E373Q|BANP_ENST00000393208.2_Missense_Mutation_p.E376Q|BANP_ENST00000355163.5_Missense_Mutation_p.E382Q|BANP_ENST00000286122.7_Missense_Mutation_p.E404Q	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	404	Gln-rich.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCCGCAGGGGGAGCAAGTCCA	0.572																																					p.E415Q													.	.			0			c.G1243C												36	29	31					16																	88068971		2195	4300	6495	SO:0001583	missense	54971	exon10			CAGGGGGAGCAAG	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1210G>C	16.37:g.88068971G>C	ENSP00000376902:p.Glu404Gln		125	0	0		118	0.09	11	NM_001173542	43	0.12	5	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184394	0.57800	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	5.28	5.28	0.74379	.	0.048679	0.85682	D	0.000000	T	0.64768	0.2628	L	0.34521	1.04	0.49798	D	0.999827	B;B;D;B;P	0.64830	0.181;0.155;0.994;0.241;0.765	B;B;D;B;P	0.72982	0.1;0.064;0.979;0.136;0.555	T	0.64512	-0.6390	9	0.46703	T	0.11	.	12.9427	0.58354	0.0:0.0:0.8381:0.1618	.	412;373;404;376;376	B4DE54;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;BANP_HUMAN;.;.	Q	404;382;372;373;376;376;376;415;404	.	ENSP00000286122:E404Q	E	+	1	0	BANP	86626472	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	8.755000	0.91646	2.482000	0.83794	0.462000	0.41574	GAG			0.572	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000269166.1		NM_017869		C	88068971	G	C	88068971	3	2	110	1	0	0	0	0	1	0	0	0	1310	1175	41	5	1295	5	BANP	16	88068971	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	7430639	88068971	2285782	58	8261											
GUCY2D	3000	mdanderson.org	37	chr17	7915838	7915838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acggaactgcatagtggatgGcagattcgtactcaagatca	13	9	11	8	2	2	2	2	0	0	2	3	4	2	4	0	3	3	3	0	3	4	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr17:7915838G>T	ENST00000254854.4	+	10	2177	c.2027G>T	c.(2026-2028)gGc>gTc	p.G676V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			skin(1)	1		Prostate(122;0.157)				ATAGTGGATGGCAGATTCGTA	0.582																																					p.G676V													.	.			0			c.G2027T												116	105	109					17																	7915838		2203	4300	6503	SO:0001583	missense	3000	exon10			TGGATGGCAGATT	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2027G>T	17.37:g.7915838G>T	ENSP00000254854:p.Gly676Val		52	0	0		30	0.1	3	NM_000180	1	0	0	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322146	0.60634	.	.	ENSG00000132518	ENST00000254854	D	0.82526	-1.62	5.35	4.36	0.52297	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000111	D	0.91754	0.7392	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93017	0.6437	10	0.62326	D	0.03	.	14.9766	0.71277	0.0:0.1438:0.8561:0.0	.	676	Q02846	GUC2D_HUMAN	V	676	ENSP00000254854:G676V	ENSP00000254854:G676V	G	+	2	0	GUCY2D	7856563	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	7.763000	0.85283	1.464000	0.47987	0.655000	0.94253	GGC			0.582	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226973.2				T	7915838	G	T	7915838	3	4	110	1	0	0	0	0	1	0	0	0	6912	1203	42	2	2061	2	GUCY2D	17	7915838	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		7915838	73279372	59	8262											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		182	0.043956044	8		176	0.06	10	NM_145301	22	0.45	10	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	110	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	7541249	15457087	65738123	60	8263											
SUPT6H	6830	broad.mit.edu	37	chr17	27010745	27010745	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgcaccatggccatcGaacgggctttacagcagttc	9	7	12	13	3	0	0	0	0	0	0	2	1	0	0	2	3	4	5	2	3	2	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr17:27010745G>T	ENST00000314616.6	+	17	2423	c.2140G>T	c.(2140-2142)Gaa>Taa	p.E714*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.E714*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	714	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				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)					CATGGCCATCGAACGGGCTTT	0.493																																					p.E714X													.	SUPT6H	165		0			c.G2140T												75	74	75					17																	27010745		2203	4300	6503	SO:0001587	stop_gained	6830	exon17			GCCATCGAACGGG	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.2140G>T	17.37:g.27010745G>T	ENSP00000319104:p.Glu714*		182	0.0054945055	1		153	0.03	5	NM_003170	70	0	0	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	41	9.160849	0.99085	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.39	5.39	0.77823	.	0.051790	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-17.9078	19.2162	0.93780	0.0:0.0:1.0:0.0	.	.	.	.	X	714	.	ENSP00000319104:E714X	E	+	1	0	SUPT6H	24034872	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.557000	0.86248	0.650000	0.86243	GAA			0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446422.2		NM_003170		T	27010745	G	T	27010745	4	4	110	1	0	0	0	0	0	1	0	0	15423	1059	37	1	2202	1	SUPT6H	17	27010745	Nonsense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	11553658	27010745	54184465	61	8264											
SUPT6H	6830	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	27015153	27015153	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagagccggacccagctGgtcaccatgtgccacatggg	8	6	13	14	2	1	1	1	0	0	1	2	3	1	2	4	3	3	1	4	3	0	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr17:27015153G>T	ENST00000314616.6	+	24	3334	c.3051G>T	c.(3049-3051)ctG>ctT	p.L1017L	SUPT6H_ENST00000347486.4_Silent_p.L1017L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1017	Interaction with KDM6A. {ECO:0000250}.				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)					GGACCCAGCTGGTCACCATGT	0.617																																					p.L1017L													.	SUPT6H	165		0			c.G3051T												88	82	84					17																	27015153		2203	4300	6503	SO:0001819	synonymous_variant	6830	exon24			CCAGCTGGTCACC	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.3051G>T	17.37:g.27015153G>T			85	0	0		58	0.07	4	NM_003170	61	0.16	10	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																					0.617	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446422.2		NM_003170		T	27015153	G	T	27015153	2	4	110	1	0	0	0	0	0	0	0	1	15423	1335	47	3		3	SUPT6H	17	27015153	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	4408	27015153	54180057	62	8265											
PITPNC1	26207	mdanderson.org	37	chr17	65574359	65574359	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtatgaggacaacaaaGgaagcaatgacaccgtgagt	17	5	11	8	1	0	3	0	3	0	0	0	5	0	5	2	2	2	2	2	2	6	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr17:65574359G>T	ENST00000581322.1	+	5	352	c.352G>T	c.(352-354)Gga>Tga	p.G118*	PITPNC1_ENST00000299954.9_Nonsense_Mutation_p.G118*|PITPNC1_ENST00000335257.6_Nonsense_Mutation_p.G118*|PITPNC1_ENST00000580974.1_Nonsense_Mutation_p.G118*			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	118					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GGACAACAAAGGAAGCAATGA	0.473																																					p.G118X													.	.			0			c.G352T												69	68	68					17																	65574359		2017	4170	6187	SO:0001587	stop_gained	26207	exon5			AACAAAGGAAGCA	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.352G>T	17.37:g.65574359G>T	ENSP00000464006:p.Gly118*		43	0	0		32	0.09	3	NM_012417	226	0	0	A8K473|J3QR20|Q96I07	Nonsense_Mutation	SNP	ENST00000581322.1	37	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	38	7.227598	0.98150	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.2108	19.2729	0.94018	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000299954:G118X	G	+	1	0	PITPNC1	63004821	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.017000	0.93651	2.723000	0.93209	0.561000	0.74099	GGA			0.473	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000447194.1		NM_012417		T	65574359	G	T	65574359	4	4	110	1	0	0	0	0	0	1	0	0	11966	1001	35	3	370	3	PITPNC1	17	65574359	Nonsense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	38559206	65574359	15620851	63	8266											
TBCD	6904	bcgsc.ca;mdanderson.org	37	chr17	80869665	80869665	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagctcatgagacaagcaGgtaagtctgaaggcctttgc	12	8	12	9	0	2	2	1	2	1	1	2	4	2	2	1	2	3	3	1	2	3	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr17:80869665G>T	ENST00000355528.4	+	23	2168	c.2038G>T	c.(2038-2040)Gtg>Ttg	p.V680L	TBCD_ENST00000539345.2_Splice_Site_p.V680L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	680					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GAGACAAGCAGGTAAGTCTGA	0.532																																					p.V680L													.	TBCD	94		0			c.G2038T												81	83	83					17																	80869665		2054	4168	6222	SO:0001630	splice_region_variant	6904	exon23			CAAGCAGGTAAGT	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2038+1G>T	17.37:g.80869665G>T			71	0	0		75	0.07	5	NM_005993	138	0	0	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714451	0.68730	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000536182	T	0.69306	-0.39	4.56	4.56	0.56223	Armadillo-type fold (1);	0.181515	0.39341	N	0.001381	T	0.72431	0.3459	M	0.87269	2.87	0.80722	D	1	P;P;P;B	0.49090	0.919;0.786;0.864;0.215	B;B;P;B	0.44359	0.393;0.22;0.447;0.09	T	0.78150	-0.2316	9	.	.	.	.	12.9915	0.58622	0.0:0.0:1.0:0.0	.	680;680;680;680	B4DE53;Q9BTW9;Q9BTW9-4;F5H8C7	.;TBCD_HUMAN;.;.	L	680;431;680	ENSP00000347719:V680L	.	V	+	1	0	TBCD	78462954	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.819000	0.55686	2.523000	0.85059	0.591000	0.81541	GTG			0.532	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439415.1		NM_005993	Missense_Mutation	T	80869665	G	T	80869665	5	4	110	1	0	0	0	0	0	0	1	0	15656	1014	35	3	2128	3	TBCD	17	80869665	Splice_Site	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	15295306	80869665	325545	64	8267											
HCN2	610	mdanderson.org	37	chr19	590563	590563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcctggatcatccacccGtacagcgacttcaggtaccg	8	7	12	14	3	2	0	2	0	0	0	3	2	3	1	4	4	3	2	4	4	2	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:590563G>A	ENST00000251287.2	+	1	671	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	206	Involved in subunit assembly. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		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)		TCATCCACCCGTACAGCGACT	0.736																																					p.P206P	Melanoma(145;1175 2427 8056 36306)												.	.			0			c.G618A												10	12	11					19																	590563		2095	4135	6230	SO:0001819	synonymous_variant	610	exon1			CCACCCGTACAGC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.618G>A	19.37:g.590563G>A			39	0	0		32	0.09	3	NM_001194	62	0	0	O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																					0.736	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452100.1		NM_001194		A	590563	G	A	590563	2	1	110	1	0	0	0	0	0	0	0	1	7012	1132	40	1		1	HCN2	19	590563	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		590563	58538420	65	8268											
LONP1	25873	broad.mit.edu;mdanderson.org	37	chr19	5693409	5693409	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccggacaggcctgcccatgGccagggacagcagggccgtg	7	3	17	14	2	0	0	0	0	0	0	0	2	0	2	5	5	2	1	5	5	0	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:5693409G>A	ENST00000577222.1	+	0	874				LONP1_ENST00000585374.1_Missense_Mutation_p.A754V|LONP1_ENST00000540670.2_Missense_Mutation_p.A672V|LONP1_ENST00000593119.1_Missense_Mutation_p.A804V|LONP1_ENST00000360614.3_Missense_Mutation_p.A868V|LONP1_ENST00000590729.1_Missense_Mutation_p.A738V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						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)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CCTGCCCATGGCCAGGGACAG	0.647																																					p.T868I													.	LONP1	66		0			c.C2603T												67	63	64					19																	5693409		2203	4300	6503	SO:0001628	intergenic_variant	9361	exon17			CCCATGGCCAGGG		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693409G>A			44	0.0227272727	1		41	0.07	3	NM_004793	427	0	0	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761029	0.89932	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.27256	1.68;1.68	4.75	4.75	0.60458	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	M	0.77712	2.385	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	0.54036	-0.8353	10	0.45353	T	0.12	-30.7254	15.2387	0.73452	0.0:0.0:1.0:0.0	.	868;804;868	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	V	868;832;672	ENSP00000353826:A868V;ENSP00000441523:A672V	ENSP00000351177:A832V	A	-	2	0	LONP1	5644409	1.000000	0.71417	0.688000	0.30117	0.648000	0.38561	7.647000	0.83462	2.161000	0.67846	0.549000	0.68633	GCC			0.647	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442561.1		NM_015414		A	5693409	G	A	5693409	1	1	110	0	1	0	0	0	0	0	0	0	8908	1203	42	2		2	LONP1	19	5693409	IGR	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	5102846	5693409	53435574	66	8269											
PNPLA6	10908	mdanderson.org	37	chr19	7619921	7619921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacctgcacctgcgctGtccgcgccgcctcttttcgc	2	9	12	18	5	1	0	0	0	1	0	3	0	2	0	5	2	2	3	5	2	0	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:7619921G>T	ENST00000221249.6	+	25	3094	c.2663G>T	c.(2662-2664)tGt>tTt	p.C888F	PNPLA6_ENST00000600737.1_Missense_Mutation_p.C926F|PNPLA6_ENST00000545201.2_Missense_Mutation_p.C861F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.C888F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.C936F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	927					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CACCTGCGCTGTCCGCGCCGC	0.711																																					p.C936F													.	.			0			c.G2807T												9	11	10					19																	7619921		2193	4276	6469	SO:0001583	missense	10908	exon24			TGCGCTGTCCGCG	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2663G>T	19.37:g.7619921G>T	ENSP00000221249:p.Cys888Phe		10	0	0		15	0.2	3	NM_001166111	65	0	0	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.666389	0.88251	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.56411	0.1983	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.959	D;D;D;P	0.83275	0.99;0.996;0.996;0.749	T	0.61158	-0.7119	10	0.54805	T	0.06	.	16.613	0.84899	0.0:0.0:1.0:0.0	.	927;861;926;888	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	F	888;861;936;888	ENSP00000221249:C888F;ENSP00000443323:C861F;ENSP00000407509:C936F;ENSP00000394348:C888F	ENSP00000221249:C888F	C	+	2	0	PNPLA6	7525921	1.000000	0.71417	0.991000	0.47740	0.587000	0.36485	9.869000	0.99810	2.523000	0.85059	0.555000	0.69702	TGT			0.711	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459275.1		NM_006702		T	7619921	G	T	7619921	3	4	110	1	0	0	0	0	1	0	0	0	12186	1377	48	3	2897	3	PNPLA6	19	7619921	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	1926512	7619921	51509062	67	8270											
COL5A3	50509	mdanderson.org	37	chr19	10077257	10077257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagctcgtggcacacgaGgcccgggcgctccgcagtgc	5	5	16	15	5	0	0	0	0	0	0	2	1	1	0	2	3	3	5	2	3	0	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:10077257G>T	ENST00000264828.3	-	63	4709	c.4624C>A	c.(4624-4626)Ctc>Atc	p.L1542I		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1542	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)			TGGCACACGAGGCCCGGGCGC	0.726																																					p.L1542I													.	.			0			c.C4624A												3	3	3					19																	10077257		1934	3835	5769	SO:0001583	missense	50509	exon63			ACACGAGGCCCGG	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.4624C>A	19.37:g.10077257G>T	ENSP00000264828:p.Leu1542Ile		24	0	0		13	0.15	2	NM_015719	16	0	0	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619674	0.66787	.	.	ENSG00000080573	ENST00000264828	T	0.73258	-0.73	4.07	4.07	0.47477	Fibrillar collagen, C-terminal (3);	0.095816	0.42964	D	0.000640	T	0.73992	0.3658	L	0.45581	1.43	0.27545	N	0.950686	D	0.63046	0.992	P	0.60173	0.87	T	0.66960	-0.5791	10	0.72032	D	0.01	.	9.1503	0.36959	0.0:0.0:0.7825:0.2175	.	1542	P25940	CO5A3_HUMAN	I	1542	ENSP00000264828:L1542I	ENSP00000264828:L1542I	L	-	1	0	COL5A3	9938257	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	5.116000	0.64661	2.111000	0.64477	0.456000	0.33151	CTC			0.726	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315788.1		NM_015719		T	10077257	G	T	10077257	3	4	110	1	0	0	0	0	1	0	0	0	3700	1000	35	3	633	3	COL5A3	19	10077257	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	2457336	10077257	49051726	68	8271											
COL5A3	50509	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	10096522	10096522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccccagcttcctaccttaGgtccagggcgtcctggataa	8	9	9	15	1	0	0	0	0	0	0	3	1	3	1	6	3	2	1	6	3	3	4			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:10096522G>T	ENST00000264828.3	-	31	2487	c.2402C>A	c.(2401-2403)cCt>cAt	p.P801H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	801	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)			TCCTACCTTAGGTCCAGGGCG	0.582																																					p.P801H													.	COL5A3	243		0			c.C2402A												120	137	131					19																	10096522		2203	4300	6503	SO:0001583	missense	50509	exon31			ACCTTAGGTCCAG	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.2402C>A	19.37:g.10096522G>T	ENSP00000264828:p.Pro801His		73	0	0		66	0.08	5	NM_015719	1	0	0	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014828	0.54468	.	.	ENSG00000080573	ENST00000264828	D	0.93189	-3.18	4.6	4.6	0.57074	.	0.260464	0.32244	U	0.006376	D	0.95918	0.8671	M	0.86573	2.825	0.41460	D	0.988038	D	0.54207	0.965	P	0.54238	0.746	D	0.96722	0.9533	10	0.66056	D	0.02	.	15.2861	0.73828	0.0:0.0:1.0:0.0	.	801	P25940	CO5A3_HUMAN	H	801	ENSP00000264828:P801H	ENSP00000264828:P801H	P	-	2	0	COL5A3	9957522	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	8.034000	0.88864	2.267000	0.75376	0.462000	0.41574	CCT			0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315788.1		NM_015719		T	10096522	G	T	10096522	3	4	110	1	0	0	0	0	1	0	0	0	3700	1000	35	3	2983	3	COL5A3	19	10096522	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	19265	10096522	49032461	69	8272											
CHERP	10523	ucsc.edu	37	chr19	16641681	16641681	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcagctcccgggcctGcttgcgctggctgtgaggga	4	7	17	13	2	0	1	0	1	0	0	1	2	1	2	3	4	4	5	3	4	0	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:16641681G>A	ENST00000198939.6	-	6	754	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Nonsense_Mutation_p.Q229*					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TCCCGGGCCTGCTTGCGCTGG	0.692																																					p.Q229X													.	CHERP	70		0			c.C685T												29	35	33					19																	16641681		1987	4155	6142	SO:0001587	stop_gained	10523	exon6			GGGCCTGCTTGCG	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.718C>T	19.37:g.16641681G>A	ENSP00000198939:p.Gln240*		23	0	0		38	0.11	4	NM_006387	170	0	0		Nonsense_Mutation	SNP	ENST00000198939.6	37		.	.	.	.	.	.	.	.	.	.	G	39	7.312017	0.98203	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-18.6228	17.6877	0.88260	0.0:0.0:1.0:0.0	.	.	.	.	X	229;240	.	ENSP00000198939:Q240X	Q	-	1	0	CHERP	16502681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.266000	0.78452	2.441000	0.82636	0.462000	0.41574	CAG			0.692	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000403372.1		NM_006387		A	16641681	G	A	16641681	4	1	110	1	0	0	0	0	0	1	0	0	3338	1328	46	2	2113	2	CHERP	19	16641681	Nonsense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	6545159	16641681	42487302	70	8273											
KIAA1683	80726	mdanderson.org	37	chr19	18368036	18368036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctggccgaggggtctGctggtcccaagagcgcctct	5	8	16	12	2	2	2	0	1	2	1	3	3	3	2	3	4	3	2	3	4	1	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:18368036G>T	ENST00000600328.3	-	4	3690	c.3497C>A	c.(3496-3498)gCa>gAa	p.A1166E	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A1120E|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1353E|PDE4C_ENST00000596647.1_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	1166						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						CGAGGGGTCTGCTGGTCCCAA	0.617																																					p.A1353E													.	.			0			c.C4058A												87	75	79					19																	18368036		2203	4300	6503	SO:0001583	missense	80726	exon4			GGGTCTGCTGGTC	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.3497C>A	19.37:g.18368036G>T	ENSP00000470780:p.Ala1166Glu		58	0	0		48	0.06	3	NM_001145304	3	0	0	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800252	0.31869	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.03441	4.02;4.01;3.93	3.31	-2.24	0.06909	.	1.114820	0.07082	N	0.837280	T	0.02970	0.0088	N	0.20986	0.625	0.09310	N	1	B;B	0.26081	0.126;0.141	B;B	0.20767	0.031;0.031	T	0.46331	-0.9199	10	0.66056	D	0.02	-0.0491	7.6148	0.28152	0.0:0.4108:0.4649:0.1243	.	1353;1166	E9PDE0;Q9H0B3	.;K1683_HUMAN	E	1353;1166;1120;430;780	ENSP00000376213:A1353E;ENSP00000352774:A1166E;ENSP00000404501:A1120E	ENSP00000352774:A1166E	A	-	2	0	KIAA1683	18229036	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.637000	0.05459	-0.235000	0.09767	0.462000	0.41574	GCA			0.617	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000466312.3				T	18368036	G	T	18368036	3	4	110	1	0	0	0	0	1	0	0	0	8266	1319	46	2	49	2	KIAA1683	19	18368036	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	1726355	18368036	40760947	71	8274											
TMEM161A	54929	mdanderson.org	37	chr19	19232386	19232386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgtcccggtgggtctgggCcagccgcaggcctgggaagg	4	6	19	12	3	1	0	0	0	1	0	2	1	2	1	4	6	2	1	4	6	1	0			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:19232386C>T	ENST00000162044.9	-	8	812	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TMEM161A_ENST00000587583.2_Missense_Mutation_p.A225T|TMEM161A_ENST00000450333.2_Missense_Mutation_p.A147T	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	250					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TGGGTCTGGGCCAGCCGCAGG	0.642																																					p.A250T													.	.			0			c.G748A												38	43	41					19																	19232386		2203	4300	6503	SO:0001583	missense	54929	exon8			TCTGGGCCAGCCG	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.748G>A	19.37:g.19232386C>T	ENSP00000162044:p.Ala250Thr		52	0	0		41	0.07	3	NM_017814	51	0	0	B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124345	0.94429	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	M	0.70842	2.15	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	0.79936	-0.1593	9	0.87932	D	0	-0.9432	13.438	0.61094	0.0:1.0:0.0:0.0	.	147;147;250	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	T	147;250	.	ENSP00000162044:A250T	A	-	1	0	TMEM161A	19093386	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	4.868000	0.63021	2.257000	0.74773	0.591000	0.81541	GCC			0.642	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460089.2		NM_017814		T	19232386	C	T	19232386	3	4	110	1	0	0	0	0	1	0	0	0	16099	739	26	2	711	2	TMEM161A	19	19232386	Missense_Mutation	SNP	C	TCGA-XE-A8H4-01A-31D-A435-10	864350	19232386	39896597	72	8275											
WDR62	284403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36582162	36582162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgacaaaagcatctcaGtgattgacttttactcgggc	10	12	9	10	1	2	3	1	3	2	0	4	3	2	3	0	1	2	2	0	1	3	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:36582162G>A	ENST00000270301.7	+	17	2095	c.2095G>A	c.(2095-2097)Gtg>Atg	p.V699M	WDR62_ENST00000401500.2_Missense_Mutation_p.V699M			O43379	WDR62_HUMAN	WD repeat domain 62	699					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)			AAGCATCTCAGTGATTGACTT	0.592																																					p.V699M													.	.			0			c.G2095A												102	81	88					19																	36582162		2203	4300	6503	SO:0001583	missense	284403	exon17			ATCTCAGTGATTG	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.2095G>A	19.37:g.36582162G>A	ENSP00000270301:p.Val699Met		97	0	0		93	0.11	10	NM_173636	145	0.28	40	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779747	0.70107	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.61040	0.73;0.14	5.35	3.15	0.36227	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.531530	0.18790	N	0.131084	T	0.59595	0.2205	L	0.49778	1.585	0.80722	D	1	D;D	0.59357	0.985;0.975	P;P	0.56751	0.805;0.804	T	0.58769	-0.7578	10	0.59425	D	0.04	-12.1109	4.2303	0.10599	0.0838:0.1591:0.592:0.1651	.	699;699	O43379-4;O43379	.;WDR62_HUMAN	M	699	ENSP00000384792:V699M;ENSP00000270301:V699M	ENSP00000270301:V699M	V	+	1	0	WDR62	41274002	0.969000	0.33509	0.866000	0.34008	0.999000	0.98932	2.038000	0.41184	0.773000	0.33404	0.655000	0.94253	GTG			0.592	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000457436.1		NM_015671		A	36582162	G	A	36582162	3	1	110	1	0	0	0	0	1	0	0	0	17337	1029	36	3	2161	3	WDR62	19	36582162	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	17349776	36582162	22546821	73	8276											
DMWD	1762	mdanderson.org	37	chr19	46287528	46287528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgccactcggggagttGcctggttgggaggagatgcc	6	9	17	9	1	0	1	0	0	0	1	1	4	0	3	3	5	3	2	3	5	0	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:46287528G>A	ENST00000270223.6	-	5	2043	c.1998C>T	c.(1996-1998)ggC>ggT	p.G666G	DMPK_ENST00000447742.2_5'Flank|DMPK_ENST00000458663.2_5'Flank|DMWD_ENST00000377735.3_Silent_p.G641G|AC011530.4_ENST00000593999.1_Intron|DMWD_ENST00000601370.1_5'Flank|DMPK_ENST00000354227.5_5'Flank|DMPK_ENST00000291270.4_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	666										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TCGGGGAGTTGCCTGGTTGGG	0.632																																					p.G666G													.	.			0			c.C1998T												61	56	58					19																	46287528		2203	4300	6503	SO:0001819	synonymous_variant	1762	exon5			GGAGTTGCCTGGT	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1998C>T	19.37:g.46287528G>A			30	0	0		24	0.13	3	NM_004943	48	0	0		Silent	SNP	ENST00000270223.6	37	CCDS33054.1																																																																																					0.632	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402063.1		NM_004943		A	46287528	G	A	46287528	2	1	110	1	0	0	0	0	0	0	0	1	4598	1306	46	2		2	DMWD	19	46287528	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	9705366	46287528	12841455	74	8277											
SIGLEC9	27180	mdanderson.org	37	chr19	51630549	51630549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctacctgaacgtctccctGcagagtgagtgcaccagtat	9	10	10	12	1	2	3	0	2	2	1	3	3	2	3	3	0	4	3	3	0	3	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:51630549G>A	ENST00000250360.3	+	4	1078	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	SIGLEC9_ENST00000440804.3_Silent_p.L337L	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	337					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACGTCTCCCTGCAGAGTGAGT	0.592																																					p.L337L													.	.			0			c.G1011A												19	18	18					19																	51630549		2203	4300	6503	SO:0001819	synonymous_variant	27180	exon4			CTCCCTGCAGAGT	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1011G>A	19.37:g.51630549G>A			38	0	0		47	0.06	3	NM_014441	31	0	0	Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	CCDS12825.1																																																																																					0.592	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464224.1		NM_014441		A	51630549	G	A	51630549	2	1	110	1	0	0	0	0	0	0	0	1	14338	1306	46	2		2	SIGLEC9	19	51630549	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	5343021	51630549	7498434	75	8278											
PPP2R1A	5518	mdanderson.org	37	chr19	52723049	52723049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccctgccattgtggagctgGctgaggacgccaagtggcgg	6	8	16	11	2	0	1	0	1	0	0	1	3	1	3	3	5	2	2	3	5	1	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:52723049G>T	ENST00000322088.6	+	10	1292	c.1234G>T	c.(1234-1236)Gct>Tct	p.A412S	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A357S|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A233S	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	412	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGTGGAGCTGGCTGAGGACGC	0.622			Mis		clear cell ovarian carcinoma																																p.A412S				Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	PPP2R1A,NS,carcinoma,-1,1	PPP2R1A	-1	1	0			c.G1234T												67	60	62					19																	52723049		2203	4300	6503	SO:0001583	missense	5518	exon10			GAGCTGGCTGAGG		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.1234G>T	19.37:g.52723049G>T	ENSP00000324804:p.Ala412Ser		38	0	0		42	0.1	4	NM_014225	805	0	0	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165833	0.94768	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.18174	2.23;2.23	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.37404	0.1002	M	0.89214	3.015	0.58432	D	0.999999	P;P	0.38455	0.522;0.632	P;P	0.46049	0.502;0.463	T	0.39231	-0.9624	10	0.59425	D	0.04	-17.5729	15.5205	0.75862	0.0:0.0:1.0:0.0	.	357;412	F5H3X9;P30153	.;2AAA_HUMAN	S	402;332;412;357	ENSP00000324804:A412S;ENSP00000415067:A357S	ENSP00000324804:A412S	A	+	1	0	PPP2R1A	57414861	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.647000	0.91057	2.605000	0.88082	0.655000	0.94253	GCT			0.622	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000267967.2		NM_014225		T	52723049	G	T	52723049	3	4	110	1	0	0	0	0	1	0	0	0	12402	1203	42	2	1272	2	PPP2R1A	19	52723049	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	1092500	52723049	6405934	76	8279											
NLRP8	126205	mdanderson.org	37	chr19	56487528	56487528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgacttgacctttaattGctgtcaggatatgatctctg	8	16	10	7	0	2	3	1	3	1	0	3	4	2	4	1	1	1	1	1	1	2	5			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr19:56487528G>T	ENST00000291971.3	+	8	2806	c.2735G>T	c.(2734-2736)tGc>tTc	p.C912F	NLRP8_ENST00000590542.1_Missense_Mutation_p.C893F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	912					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)		ACCTTTAATTGCTGTCAGGAT	0.383																																					p.C912F													.	.			0			c.G2735T												112	106	108					19																	56487528		2203	4300	6503	SO:0001583	missense	126205	exon8			TTAATTGCTGTCA	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.2735G>T	19.37:g.56487528G>T	ENSP00000291971:p.Cys912Phe		73	0	0		82	0.06	5	NM_176811	0		0	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063227	0.19987	.	.	ENSG00000179709	ENST00000291971	T	0.52983	0.64	2.67	2.67	0.31697	.	.	.	.	.	T	0.45034	0.1322	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.997;0.999	D;D	0.73380	0.975;0.98	T	0.27434	-1.0074	9	0.59425	D	0.04	.	8.9897	0.36017	0.0:0.0:1.0:0.0	.	893;912	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	912	ENSP00000291971:C912F	ENSP00000291971:C912F	C	+	2	0	NLRP8	61179340	0.981000	0.34729	0.020000	0.16555	0.062000	0.15995	2.336000	0.43938	1.827000	0.53221	0.514000	0.50259	TGC			0.383	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457462.1		NM_176811		T	56487528	G	T	56487528	3	4	110	1	0	0	0	0	1	0	0	0	10500	1319	46	2	2765	2	NLRP8	19	56487528	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10	3764479	56487528	2641455	77	8280											
ENTPD6	955	mdanderson.org	37	chr20	25187787	25187787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctgcgggtggcgaaggtgGcataccccctggggctgtgt	4	8	18	11	2	0	0	0	0	0	0	0	1	0	0	3	6	2	2	3	6	2	1			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr20:25187787G>A	ENST00000376652.4	+	3	293	c.130G>A	c.(130-132)Gca>Aca	p.A44T	ENTPD6_ENST00000360031.2_Missense_Mutation_p.A43T|ENTPD6_ENST00000354989.5_Missense_Mutation_p.A27T|ENTPD6_ENST00000433259.2_Missense_Mutation_p.A44T			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	44					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						GGCGAAGGTGGCATACCCCCT	0.622																																					p.A44T													.	.			0			c.G130A												56	55	55					20																	25187787		2203	4300	6503	SO:0001583	missense	955	exon3			AAGGTGGCATACC	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.130G>A	20.37:g.25187787G>A	ENSP00000365840:p.Ala44Thr		79	0.0126582278	1		42	0.07	3	NM_001247	54	0	0	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053550	0.36277	.	.	ENSG00000197586	ENST00000354989;ENST00000360031;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000435520;ENST00000418890;ENST00000425813	T;T;T;T;T;T;T;T;T	0.34072	2.07;2.21;2.21;1.7;1.38;2.14;1.42;1.38;2.32	4.95	3.96	0.45880	.	1.026250	0.07690	N	0.938507	T	0.24160	0.0585	L	0.29908	0.895	0.27211	N	0.959919	P;P;P;P;B;B;B;B	0.43094	0.651;0.651;0.651;0.799;0.449;0.181;0.181;0.321	B;B;B;B;B;B;B;B	0.33339	0.084;0.084;0.084;0.162;0.154;0.054;0.036;0.073	T	0.10222	-1.0639	10	0.42905	T	0.14	5.4442	7.8071	0.29209	0.1208:0.0:0.8792:0.0	.	26;44;44;44;27;43;43;44	B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.;.;.;.;.;.;.;ENTP6_HUMAN	T	27;43;44;26;26;44;43;27;44	ENSP00000347084:A27T;ENSP00000353131:A43T;ENSP00000365840:A44T;ENSP00000408098:A26T;ENSP00000395064:A26T;ENSP00000401895:A44T;ENSP00000398844:A43T;ENSP00000390511:A27T;ENSP00000390646:A44T	ENSP00000347084:A27T	A	+	1	0	ENTPD6	25135787	0.995000	0.38212	0.730000	0.30809	0.745000	0.42441	2.125000	0.42016	1.223000	0.43536	0.462000	0.41574	GCA			0.622	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078414.2				A	25187787	G	A	25187787	3	1	110	1	0	0	0	0	1	0	0	0	5150	1203	42	2	143	2	ENTPD6	20	25187787	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		25187787	37837733	78	8281											
GAS2L1	10634	mdanderson.org	37	chr22	29704567	29704567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctggccccacgcctcGtgcagtttgagcaggagatt	6	9	13	13	2	0	2	0	1	0	1	1	3	0	2	4	2	3	4	4	2	0	2			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chr22:29704567G>T	ENST00000406549.3	+	2	622	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L	GAS2L1_ENST00000471961.1_Missense_Mutation_p.V158L|GAS2L1_ENST00000341313.6_Missense_Mutation_p.V158L|GAS2L1_ENST00000360113.2_Missense_Mutation_p.V158L|GAS2L1_ENST00000403764.1_Missense_Mutation_p.V158L|GAS2L1_ENST00000407854.1_Missense_Mutation_p.V158L|GAS2L1_ENST00000407647.2_Missense_Mutation_p.V158L	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	158					cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						CCCACGCCTCGTGCAGTTTGA	0.701																																					p.V158L													.	.			0			c.G472T												24	27	26					22																	29704567		2194	4298	6492	SO:0001583	missense	10634	exon2			CGCCTCGTGCAGT	BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.472G>T	22.37:g.29704567G>T	ENSP00000383995:p.Val158Leu		22	0	0		24	0.13	3	NM_152237	101	0	0	B5MCR7|Q53EN7|Q92640|Q9BUY9	Missense_Mutation	SNP	ENST00000406549.3	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.150126	0.78001	.	.	ENSG00000185340	ENST00000407647;ENST00000333679;ENST00000406549;ENST00000360113;ENST00000341313;ENST00000403764;ENST00000471961;ENST00000407854	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.85	3.75	0.43078	Calponin homology domain (2);	0.085623	0.45361	D	0.000366	T	0.38692	0.1050	L	0.27053	0.805	0.35191	D	0.773414	D;D;P;P	0.55385	0.965;0.971;0.912;0.912	P;P;P;P	0.54965	0.687;0.756;0.765;0.765	T	0.51332	-0.8719	10	0.72032	D	0.01	-14.147	6.0291	0.19671	0.2957:0.0:0.7043:0.0	.	158;158;158;158	B5MCR7;E7EQM6;A0A5E8;Q99501	.;.;.;GA2L1_HUMAN	L	158	ENSP00000385554:V158L;ENSP00000383995:V158L;ENSP00000353229:V158L;ENSP00000344012:V158L;ENSP00000385358:V158L;ENSP00000450152:V158L;ENSP00000385023:V158L	ENSP00000332834:V158L	V	+	1	0	GAS2L1	28034567	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	2.772000	0.47678	2.250000	0.74265	0.491000	0.48974	GTG			0.701	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000321365.1		NM_006478		T	29704567	G	T	29704567	3	4	110	1	0	0	0	0	1	0	0	0	6260	1145	40	1	474	1	GAS2L1	22	29704567	Missense_Mutation	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		29704567	21599999	79	8282											
WNK3	65267	mdanderson.org	37	chrX	54320996	54320996	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtgttacctgtaacagaGgagcagtgctgctgtggttt	8	13	13	7	0	0	1	0	0	0	1	0	2	0	2	1	2	5	6	1	2	2	3			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chrX:54320996G>T	ENST00000375159.2	-	7	1682	c.1683C>A	c.(1681-1683)tcC>tcA	p.S561S	WNK3_ENST00000375169.3_Silent_p.S561S|WNK3_ENST00000354646.2_Silent_p.S561S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	561					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTGTAACAGAGGAGCAGTGCT	0.408																																					p.S561S													.	.			0			c.C1683A												60	41	47					X																	54320996		2203	4299	6502	SO:0001819	synonymous_variant	65267	exon8			AACAGAGGAGCAG	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1683C>A	X.37:g.54320996G>T			36	0	0		40	0.08	3	NM_001002838	7	0	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	CCDS14357.1																																																																																					0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056799.2		NM_020922		T	54320996	G	T	54320996	2	4	110	1	0	0	0	0	0	0	0	1	17403	987	35	3		3	WNK3	23	54320996	Silent	SNP	G	TCGA-XE-A8H4-01A-31D-A435-10		54320996	100949564	80	8283											
PAK3	5063	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	110385387	110385387	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagactttgagcatacgaTtcatgtggggtttgatgcag	9	14	12	6	1	2	3	2	2	0	1	2	4	2	3	0	2	3	3	0	2	1	5			TCGA-XE-A8H4-01A-31D-A435-10	TCGA-XE-A8H4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4f2cc915-3956-4c23-9ebc-a6e10b61529e	6423e32a-2e67-4707-a9ad-80324f8a4cc1	g.chrX:110385387T>G	ENST00000372010.1	+	6	681	c.239T>G	c.(238-240)aTt>aGt	p.I80S	PAK3_ENST00000518291.1_Missense_Mutation_p.I80S|PAK3_ENST00000446737.1_Missense_Mutation_p.I80S|PAK3_ENST00000417227.1_Missense_Mutation_p.I80S|PAK3_ENST00000360648.4_Missense_Mutation_p.I80S|PAK3_ENST00000425146.1_Missense_Mutation_p.I80S|PAK3_ENST00000372007.5_Missense_Mutation_p.I80S|PAK3_ENST00000519681.1_Missense_Mutation_p.I80S|PAK3_ENST00000262836.4_Missense_Mutation_p.I80S			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	80	Autoregulatory region. {ECO:0000250}.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding. {ECO:0000250}.				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)			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						GAGCATACGATTCATGTGGGG	0.398										TSP Lung(19;0.15)																											p.I80S													.	PAK3	179		0			c.T239G												198	195	196					X																	110385387		2203	4300	6503	SO:0001583	missense	5063	exon4			ATACGATTCATGT	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.239T>G	X.37:g.110385387T>G	ENSP00000361080:p.Ile80Ser		79	0	0		72	0.07	5	NM_001128166	1	0	0	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170719	0.78452	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.96	4.78	0.61160	PAK-box/P21-Rho-binding (3);	0.053444	0.64402	D	0.000001	D	0.85695	0.5756	N	0.26042	0.785	0.80722	D	1	D;D;P;P	0.57899	0.961;0.981;0.915;0.896	P;P;P;P	0.62885	0.804;0.908;0.836;0.747	D	0.85902	0.1435	10	0.66056	D	0.02	.	11.6631	0.51358	0.1348:0.0:0.0:0.8652	.	80;80;80;80	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	S	80	ENSP00000410853:I80S;ENSP00000401982:I80S;ENSP00000361080:I80S;ENSP00000429113:I80S;ENSP00000361077:I80S;ENSP00000428921:I80S;ENSP00000405642:I80S;ENSP00000353864:I80S;ENSP00000389172:I80S;ENSP00000262836:I80S	ENSP00000262836:I80S	I	+	2	0	PAK3	110272043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	0.838000	0.34948	0.486000	0.48141	ATT			0.398	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000057918.1		NM_002578		G	110385387	T	G	110385387	3	3	110	1	0	0	0	0	1	0	0	0	11419	1493	52	4	245	4	PAK3	23	110385387	Missense_Mutation	SNP	T	TCGA-XE-A8H4-01A-31D-A435-10	56064391	110385387	44885173	81	8284											
TAS1R1	80835	mdanderson.org	37	chr1	6615594	6615594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctggctgtctgcaggtgaGgcacagacccgaggtgaccc	7	8	14	12	1	2	3	0	2	2	1	2	4	2	3	2	4	1	3	2	4	0	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr1:6615594G>T	ENST00000333172.6	+	1	354	c.161G>T	c.(160-162)aGg>aTg	p.R54M	TAS1R1_ENST00000351136.3_Missense_Mutation_p.R54M|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R54M|NOL9_ENST00000377705.5_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	54					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)		CTGCAGGTGAGGCACAGACCC	0.612																																					p.R54M													.	.			0			c.G161T												43	40	41					1																	6615594		2182	4270	6452	SO:0001583	missense	80835	exon1			AGGTGAGGCACAG		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.161G>T	1.37:g.6615594G>T	ENSP00000331867:p.Arg54Met		41	0	0		32	0.09	3	NM_177540	1	0	0	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556590	0.45487	.	.	ENSG00000173662	ENST00000333172;ENST00000328191;ENST00000351136	D;D;D	0.86497	-2.13;-2.13;-2.13	4.28	3.34	0.38264	.	1.714430	0.02952	N	0.141916	D	0.91710	0.7379	L	0.50333	1.59	0.09310	N	1	D;D;D;D	0.76494	0.999;0.994;0.997;0.993	D;D;P;P	0.71414	0.967;0.973;0.873;0.884	T	0.76168	-0.3058	10	0.46703	T	0.11	.	9.8365	0.40973	0.0:0.2087:0.7913:0.0	.	54;54;54;54	Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;.;TS1R1_HUMAN	M	54	ENSP00000331867:R54M;ENSP00000327705:R54M;ENSP00000312558:R54M	ENSP00000327705:R54M	R	+	2	0	TAS1R1	6538181	0.953000	0.32496	0.005000	0.12908	0.061000	0.15899	1.947000	0.40293	0.965000	0.38133	0.455000	0.32223	AGG			0.612	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004211.1				T	6615594	G	T	6615594	3	4	111	1	0	0	0	0	1	0	0	0	15585	1000	35	3	163	3	TAS1R1	1	6615594	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		6615594	242635027	1	8285											
FBXO2	26232	mdanderson.org	37	chr1	11710791	11710791	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtacgcggcggcggcCgccgcctcctcctcctgctg	2	7	13	19	6	0	0	0	0	0	0	4	0	4	0	7	4	2	2	7	4	1	1	rs61749273		TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr1:11710791C>G	ENST00000354287.4	-	2	464	c.123G>C	c.(121-123)gcG>gcC	p.A41A	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	41					cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGGCGGccgccgcctcct	0.756																																					p.A41A													.	.			0			c.G123C												2	2	2					1																	11710791		1408	2892	4300	SO:0001819	synonymous_variant	26232	exon2			GGCGGCCGCCGCC	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"F-boxes /  "other""	13581	protein-coding gene	gene with protein product		607112	"F-box only protein 2", "organ of Corti protein 1"	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.123G>C	1.37:g.11710791C>G			17	0	0		9	0.22	2	NM_012168	17	0.29	5	B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Silent	SNP	ENST00000354287.4	37	CCDS130.1																																																																																					0.756	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005764.1		NM_012168		G	11710791	C	G	11710791	2	3	111	1	0	0	0	0	0	0	0	1	5745	639	23	5		5	FBXO2	1	11710791	Silent	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	5095197	11710791	237539830	2	8286											
MYOM3	127294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	24406587	24406587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggaaactgacgtgataGcctgtgacaggcccagcccc	9	7	11	14	1	0	3	0	3	0	0	1	4	1	4	5	2	3	0	5	2	2	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr1:24406587G>A	ENST00000374434.3	-	20	2667	c.2505C>T	c.(2503-2505)ggC>ggT	p.G835G	MYOM3_ENST00000329601.7_Silent_p.G835G|MYOM3_ENST00000330966.7_Silent_p.G836G|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'Flank|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	835	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					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)		TGACGTGATAGCCTGTGACAG	0.622																																					p.G835G													.	.			0			c.C2505T												59	66	63					1																	24406587		1954	4148	6102	SO:0001819	synonymous_variant	127294	exon20			GTGATAGCCTGTG	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.2505C>T	1.37:g.24406587G>A			150	0	0		105	0.25	26	NM_152372	0		0	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	CCDS41281.1																																																																																					0.622	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000008272.2		NM_152372		A	24406587	G	A	24406587	2	1	111	1	0	0	0	0	0	0	0	1	10109	958	34	2		2	MYOM3	1	24406587	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	12695796	24406587	224844034	3	8287											
SLC9A1	6548	broad.mit.edu	37	chr1	27436115	27436115	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgacccggatgtgggaggTaaatcgggaggtgaaggctg	10	7	19	5	2	0	2	0	2	0	0	1	6	0	5	1	6	0	2	1	6	3	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr1:27436115T>G	ENST00000263980.3	-	3	1542	c.967A>C	c.(967-969)Acc>Ccc	p.T323P	SLC9A1_ENST00000374086.3_Missense_Mutation_p.T323P|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	323					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	ATGTGGGAGGTAAATCGGGAG	0.607																																					p.T323P													.	SLC9A1	68		0			c.A967C												158	147	151					1																	27436115		2203	4300	6503	SO:0001583	missense	6548	exon3			GGGAGGTAAATCG	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.967A>C	1.37:g.27436115T>G	ENSP00000263980:p.Thr323Pro		79	0.164556962	13		103	0.22	23	NM_003047	82	0.06	5	B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	CCDS295.1	.	.	.	.	.	.	.	.	.	.	T	32	5.117445	0.94385	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	T;T	0.16897	2.31;2.31	5.96	5.96	0.96718	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.89715	3.055	0.80722	D	1	D;P	0.63880	0.993;0.91	D;P	0.66351	0.943;0.865	T	0.58736	-0.7584	10	0.87932	D	0	.	15.2621	0.73631	0.0:0.0:0.0:1.0	.	323;323	P19634-2;P19634	.;SL9A1_HUMAN	P	323	ENSP00000263980:T323P;ENSP00000363199:T323P	ENSP00000263980:T323P	T	-	1	0	SLC9A1	27308702	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	8.037000	0.88933	2.285000	0.76669	0.529000	0.55759	ACC			0.607	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012336.2		NM_003047		G	27436115	T	G	27436115	3	3	111	1	0	0	0	0	1	0	0	0	14732	1638	57	4	1520	4	SLC9A1	1	27436115	Missense_Mutation	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10	3029528	27436115	221814506	4	8288											
COL24A1	255631	mdanderson.org	37	chr1	86246917	86246917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttacagttctacctgttgGgcctattataccttctctgc	7	16	6	12	0	2	0	0	0	2	0	3	0	2	0	3	1	4	2	3	1	5	8			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr1:86246917G>T	ENST00000370571.2	-	52	4690	c.4324C>A	c.(4324-4326)Cca>Aca	p.P1442T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1442T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1442	Collagen-like 17.				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)		CTACCTGTTGGGCCTATTATA	0.328																																					p.P1442T													.	.			0			c.C4324A												120	123	122					1																	86246917		1809	4069	5878	SO:0001583	missense	255631	exon52			CTGTTGGGCCTAT	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.4324C>A	1.37:g.86246917G>T	ENSP00000359603:p.Pro1442Thr		24	0	0		40	0.08	3	NM_152890	2	0	0	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089407	0.55968	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.96651	-4.08;-4.08	6.03	6.03	0.97812	.	0.000000	0.41001	N	0.000980	D	0.97353	0.9134	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96022	0.9010	10	0.38643	T	0.18	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1442;1442	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	T	1442	ENSP00000359603:P1442T;ENSP00000392531:P1442T	ENSP00000359603:P1442T	P	-	1	0	COL24A1	86019505	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	3.965000	0.56788	2.861000	0.98227	0.655000	0.94253	CCA			0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000029335.4		NM_152890		T	86246917	G	T	86246917	3	4	111	1	0	0	0	0	1	0	0	0	3685	1232	43	3	856	3	COL24A1	1	86246917	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	58810802	86246917	163003704	5	8289											
RORC	6097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	151783858	151783858	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgaaaggccagctcCagattgtactgcagctgttc	10	11	11	9	0	0	4	0	3	0	1	2	4	1	4	2	1	4	5	2	1	2	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr1:151783858C>A	ENST00000318247.6	-	10	1445	c.1338G>T	c.(1336-1338)ctG>ctT	p.L446L	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.L500L|RORC_ENST00000356728.6_Silent_p.L425L	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	446	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCCAGCTCCAGATTGTACT	0.532																																					p.L446L													RORC,NS,neuroblastoma,-2,1	RORC	-2	1	0			c.G1338T												160	135	143					1																	151783858		2203	4300	6503	SO:0001819	synonymous_variant	6097	exon10			CAGCTCCAGATTG	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1338G>T	1.37:g.151783858C>A			112	0	0		108	0.19	20	NM_005060	1	0	0	Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	CCDS1004.1																																																																																					0.532	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000036626.1				A	151783858	C	A	151783858	2	1	111	1	0	0	0	0	0	0	0	1	13553	581	21	3		3	RORC	1	151783858	Silent	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	65536941	151783858	97466763	6	8290											
RFWD2	64326	broad.mit.edu	37	chr1	176105674	176105674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttagctccttctggatctGttccagttgctgcagattaa	8	15	8	10	0	2	1	0	0	2	1	4	2	4	2	2	1	3	5	2	1	2	5			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr1:176105674G>T	ENST00000367669.3	-	7	1355	c.841C>A	c.(841-843)Cag>Aag	p.Q281K	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	281					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						TTCTGGATCTGTTCCAGTTGC	0.333																																					p.Q281K	Ovarian(134;1413 1765 5706 35534 51541)												.	RFWD2	67		0			c.C841A												84	79	80					1																	176105674		2203	4300	6503	SO:0001583	missense	64326	exon7			GGATCTGTTCCAG	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.841C>A	1.37:g.176105674G>T	ENSP00000356641:p.Gln281Lys		150	0.0066666667	1		215	0.07	15	NM_022457	112	0	0	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653051	0.47362	.	.	ENSG00000143207	ENST00000367665;ENST00000367669	T	0.10668	2.85	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.39147	1.195	0.80722	D	1	P;B;P	0.50819	0.939;0.14;0.713	P;B;P	0.51742	0.578;0.184;0.678	T	0.04481	-1.0948	10	0.08837	T	0.75	-8.8824	18.7791	0.91924	0.0:0.0:1.0:0.0	.	17;41;281	Q8NHY2-3;B1AMD2;Q8NHY2	.;.;RFWD2_HUMAN	K	17;281	ENSP00000356641:Q281K	ENSP00000356637:Q17K	Q	-	1	0	RFWD2	174372297	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.422000	0.80217	2.547000	0.85894	0.650000	0.86243	CAG			0.333	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084672.2		NM_022457		T	176105674	G	T	176105674	3	4	111	1	0	0	0	0	1	0	0	0	13283	1386	48	3	1410	3	RFWD2	1	176105674	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	24321816	176105674	73144947	7	8291											
ALK	238	mdanderson.org	37	chr2	29462644	29462644	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagacacgccgtgggaccGcatcatggtgttcttcccgc	7	8	11	15	4	2	1	1	0	1	1	3	2	3	2	3	2	0	2	3	2	0	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr2:29462644G>T	ENST00000389048.3	-	13	3163	c.2257C>A	c.(2257-2259)Cgg>Agg	p.R753R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	753					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)	CCGTGGGACCGCATCATGGTG	0.592			"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																												p.R753R			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	ALK,right_lower_lobe,carcinoma,+1,1	ALK	1	1	0			c.C2257A												102	78	86					2																	29462644		2203	4300	6503	SO:0001819	synonymous_variant	238	exon13	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	GGGACCGCATCAT	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.2257C>A	2.37:g.29462644G>T			54	0	0		54	0.06	3	NM_004304	1	0	0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																					0.592	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324994.1		NM_004304		T	29462644	G	T	29462644	2	4	111	1	0	0	0	0	0	0	0	1	525	1086	38	1		1	ALK	2	29462644	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		29462644	213736729	8	8292											
TEKT4	150483	ucsc.edu	37	chr2	95542476	95542476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcatggcccatcgtactCgctaccccaccatcctgcag	8	8	8	17	2	0	0	0	0	0	0	3	0	1	0	5	1	4	4	5	1	2	2	rs1052809		TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr2:95542476C>T	ENST00000295201.4	+	6	1407	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	424					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCATCGTACTCGCTACCCCAC	0.592													C|||	1	0.000199681	0	0	5008	,	,		19845	0		0	False		,,,				2504	0.001				p.R424C													TEKT4,NS,carcinoma,0,1	TEKT4	72	1	0			c.C1270T												77	53	61					2																	95542476		2203	4300	6503	SO:0001583	missense	150483	exon6			CGTACTCGCTACC	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1270C>T	2.37:g.95542476C>T	ENSP00000295201:p.Arg424Cys		16	0	0		27	0.19	5	NM_144705	2	1	2		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	12.76	2.033512	0.35893	.	.	ENSG00000163060	ENST00000295201	T	0.02916	4.11	2.43	2.43	0.29744	.	0.261531	0.37623	N	0.002019	T	0.03651	0.0104	L	0.60455	1.87	0.80722	D	1	P	0.36874	0.572	B	0.32583	0.148	T	0.50792	-0.8786	10	0.44086	T	0.13	-7.0137	10.5484	0.45072	0.0:1.0:0.0:0.0	rs1052809;rs3193279	424	Q8WW24	TEKT4_HUMAN	C	424	ENSP00000295201:R424C	ENSP00000295201:R424C	R	+	1	0	TEKT4	94906203	0.031000	0.19500	0.725000	0.30721	0.755000	0.42902	0.890000	0.28295	1.049000	0.40321	0.281000	0.19383	CGC			0.592	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252777.1		NM_144705		T	95542476	C	T	95542476	3	4	111	1	0	0	0	0	1	0	0	0	15778	884	31	1	1292	1	TEKT4	2	95542476	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	66079832	95542476	147656897	9	8293											
FAM178B	51252	mdanderson.org	37	chr2	97543710	97543710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcatggtgcggtgcatggCctgggggctctcccggatct	4	9	17	11	2	2	0	0	0	2	0	3	2	2	1	2	6	3	3	2	6	0	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr2:97543710C>T	ENST00000417561.3	-	20	2367	c.2368G>A	c.(2368-2370)Gcc>Acc	p.A790T	FAM178B_ENST00000490605.2_Missense_Mutation_p.A642T|FAM178B_ENST00000393526.2_Missense_Mutation_p.A82T|FAM178B_ENST00000470789.1_5'UTR|FAM178B_ENST00000327896.3_Missense_Mutation_p.A610T			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	790										large_intestine(1)|ovary(1)	2						CGGTGCATGGCCTGGGGGCTC	0.667																																					p.A642T													.	.			0			c.G1924A												76	64	68					2																	97543710		2203	4300	6503	SO:0001583	missense	51252	exon16			GCATGGCCTGGGG	AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.2368G>A	2.37:g.97543710C>T	ENSP00000413245:p.Ala790Thr		44	0	0		45	0.07	3	NM_001122646	18	0	0	A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	ENST00000417561.3	37		.	.	.	.	.	.	.	.	.	.	C	17.55	3.417601	0.62622	.	.	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000393526;ENST00000490605	T;T;T;T	0.47528	0.84;0.88;0.89;0.86	5.2	5.2	0.72013	.	.	.	.	.	T	0.67277	0.2876	M	0.70595	2.14	0.31473	N	0.668127	D	0.71674	0.998	D	0.77557	0.99	T	0.71104	-0.4689	9	0.56958	D	0.05	-10.8013	14.2422	0.65963	0.0:1.0:0.0:0.0	.	790	Q8IXR5	F178B_HUMAN	T	790;610;82;642	ENSP00000413245:A790T;ENSP00000333553:A610T;ENSP00000377160:A82T;ENSP00000429896:A642T	ENSP00000333553:A610T	A	-	1	0	FAM178B	96907437	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	1.686000	0.37669	2.423000	0.82170	0.455000	0.32223	GCC			0.667	FAM178B-202	KNOWN	basic	protein_coding	protein_coding				NM_016490		T	97543710	C	T	97543710	3	4	111	1	0	0	0	0	1	0	0	0	5514	739	26	2	123	2	FAM178B	2	97543710	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	2001234	97543710	145655663	10	8294											
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	141459406	141459406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttctgacagacccgtttGcatgtgctctgccaaaaagt	9	11	8	13	1	2	2	0	1	2	1	2	2	2	2	3	0	3	3	3	0	2	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr2:141459406G>A	ENST00000389484.3	-	40	7282	c.6311C>T	c.(6310-6312)gCa>gTa	p.A2104V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2104					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)		AGACCCGTTTGCATGTGCTCT	0.423										TSP Lung(27;0.18)																											p.A2104V	Colon(99;50 2074 2507 20106)												LRP1B,colon,carcinoma,+1,2	LRP1B	1	2	0			c.C6311T												158	145	149					2																	141459406		2203	4300	6503	SO:0001583	missense	53353	exon40			CCGTTTGCATGTG	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.6311C>T	2.37:g.141459406G>A	ENSP00000374135:p.Ala2104Val		204	0	0		199	0.23	46	NM_018557	1	0	0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798864	0.70567	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90069	-2.61	5.24	5.24	0.73138	Six-bladed beta-propeller, TolB-like (1);	0.076531	0.51477	U	0.000083	D	0.86276	0.5894	L	0.42632	1.34	0.40690	D	0.98238	P	0.43094	0.799	B	0.40901	0.343	D	0.85637	0.1274	10	0.30078	T	0.28	.	18.8145	0.92072	0.0:0.0:1.0:0.0	.	2104	Q9NZR2	LRP1B_HUMAN	V	2104;2042	ENSP00000374135:A2104V	ENSP00000374135:A2104V	A	-	2	0	LRP1B	141175876	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.722000	0.98770	2.424000	0.82194	0.563000	0.77884	GCA			0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254736.2		NM_018557		A	141459406	G	A	141459406	3	1	111	1	0	0	0	0	1	0	0	0	8971	1319	46	2	7696	2	LRP1B	2	141459406	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	43915696	141459406	101739967	11	8295											
TTN	7273	bcgsc.ca;mdanderson.org	37	chr2	179605648	179605648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcccaaaggaagctgactGctcaattcattggctttagc	10	11	9	11	0	2	1	2	1	0	0	3	2	3	2	1	2	3	4	1	2	4	4			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr2:179605648G>T	ENST00000591111.1	-	46	11585	c.11361C>A	c.(11359-11361)agC>agA	p.S3787R	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3741R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S3933R|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.S3866R|TTN_ENST00000589042.1_Missense_Mutation_p.S4104R			Q8WZ42	TITIN_HUMAN	titin	33959					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)			GAAGCTGACTGCTCAATTCAT	0.403																																					p.S4104R													TTN_ENST00000359218,NS,carcinoma,-1,3	TTN	18412	3	0			c.C12312A												106	104	104					2																	179605648		1897	4105	6002	SO:0001583	missense	7273	exon48			CTGACTGCTCAAT	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.11361C>A	2.37:g.179605648G>T	ENSP00000465570:p.Ser3787Arg		91	0	0		70	0.07	5	NM_001267550	0		0	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		.	.	.	.	.	.	.	.	.	.	G	11.47	1.647290	0.29246	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61040	0.21;0.14;0.14	5.37	-1.39	0.08997	.	.	.	.	.	T	0.37183	0.0994	N	0.19112	0.55	0.20307	N	0.999914	B;B;B	0.20671	0.013;0.013;0.047	B;B;B	0.17433	0.018;0.018;0.018	T	0.29852	-0.9998	9	0.87932	D	0	.	5.582	0.17254	0.3676:0.0:0.5115:0.1209	.	3741;3866;3933	D3DPF9;E7EQE6;E7ET18	.;.;.	R	3741;3933;3866;3741	ENSP00000434586:S3741R;ENSP00000340554:S3933R;ENSP00000352154:S3866R	ENSP00000340554:S3933R	S	-	3	2	TTN	179313893	0.001000	0.12720	0.084000	0.20598	0.053000	0.15095	0.654000	0.24918	-0.181000	0.10619	-0.137000	0.14449	AGC			0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378		T	179605648	G	T	179605648	3	4	111	1	0	0	0	0	1	0	0	0	16759	1310	46	2	92477	2	TTN	2	179605648	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	38146242	179605648	63593725	12	8296											
XRCC5	7520	broad.mit.edu	37	chr2	217012963	217012963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgattgaagccaagaaaaAggatcaagtgactgctcagg	15	8	11	7	0	3	4	2	3	1	1	3	5	3	5	1	2	2	1	1	2	5	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr2:217012963A>G	ENST00000392133.3	+	16	2095	c.1634A>G	c.(1633-1635)aAg>aGg	p.K545R	XRCC5_ENST00000392132.2_Missense_Mutation_p.K545R			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	545					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)		GCCAAGAAAAAGGATCAAGTG	0.383								Non-homologous end-joining																													p.K545R													.	XRCC5	64		0			c.A1634G												80	80	80					2																	217012963		2203	4300	6503	SO:0001583	missense	7520	exon14			AGAAAAAGGATCA	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.1634A>G	2.37:g.217012963A>G	ENSP00000375978:p.Lys545Arg		270	0	0		287	0.01	4	NM_021141	3275	0	1	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.414871	0.25465	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.34667	1.35;1.35	5.62	2.88	0.33553	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);Ku70/Ku80 C-terminal arm (2);	0.050645	0.85682	D	0.000000	T	0.29190	0.0726	L	0.59912	1.85	0.43965	D	0.996646	B	0.12013	0.005	B	0.14023	0.01	T	0.06661	-1.0814	10	0.17832	T	0.49	.	7.4672	0.27328	0.8043:0.0:0.1957:0.0	.	545	P13010	XRCC5_HUMAN	R	545	ENSP00000375978:K545R;ENSP00000375977:K545R	ENSP00000375977:K545R	K	+	2	0	XRCC5	216721208	1.000000	0.71417	0.890000	0.34922	0.785000	0.44390	2.219000	0.42899	0.947000	0.37659	0.482000	0.46254	AAG			0.383	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256675.3		NM_021141		G	217012963	A	G	217012963	3	3	111	1	0	0	0	0	1	0	0	0	17480	72	3	4	1688	4	XRCC5	2	217012963	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10	37407315	217012963	26186410	13	8297											
PER2	8864	mdanderson.org	37	chr2	239171600	239171600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggacctactctttttGtggatggccagcatcaaggg	10	10	13	8	0	2	0	1	0	1	0	2	2	2	2	2	5	2	1	2	5	3	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr2:239171600G>T	ENST00000254657.3	-	10	1425	c.1146C>A	c.(1144-1146)caC>caA	p.H382Q	PER2_ENST00000440245.1_Missense_Mutation_p.H382Q|PER2_ENST00000254658.3_Intron|PER2_ENST00000355768.2_Intron	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	382	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TACTCTTTTTGTGGATGGCCA	0.567											OREG0015337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H382Q													.	.			0			c.C1146A												92	78	82					2																	239171600		2203	4300	6503	SO:0001583	missense	8864	exon10			CTTTTTGTGGATG	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1146C>A	2.37:g.239171600G>T	ENSP00000254657:p.His382Gln		58	0	0	2409	50	0.06	3	NM_022817	10	0	0	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449873	0.63290	.	.	ENSG00000132326	ENST00000254657;ENST00000440245	T;T	0.19105	2.17;2.17	4.56	2.74	0.32292	PAS fold-3 (1);PAS (2);	0.103502	0.64402	D	0.000004	T	0.54255	0.1847	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.61083	-0.7134	10	0.87932	D	0	-31.6807	9.0681	0.36475	0.1857:0.0:0.8143:0.0	.	382;382;382	F5GYD5;B4DH14;O15055	.;.;PER2_HUMAN	Q	382	ENSP00000254657:H382Q;ENSP00000397516:H382Q	ENSP00000254657:H382Q	H	-	3	2	PER2	238836339	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.107000	0.31110	0.624000	0.30286	0.655000	0.94253	CAC			0.567	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257167.1		NM_022817		T	239171600	G	T	239171600	3	4	111	1	0	0	0	0	1	0	0	0	11747	1368	48	3	2677	3	PER2	2	239171600	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	22158637	239171600	4027773	14	8298											
ITPR1	3708	mdanderson.org	37	chr3	4730230	4730230	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttggctcatgaatttttgCagaatttctgcgcaggcaac	9	13	11	8	1	2	2	1	1	1	1	2	2	2	2	0	3	3	5	0	3	3	4			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr3:4730230C>T	ENST00000443694.2	+	28	3709	c.3709C>T	c.(3709-3711)Cag>Tag	p.Q1237*	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.Q1252*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.Q1237*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.Q1228*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.Q1243*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.Q1243*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1252					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)	TGAATTTTTGCAGAATTTCTG	0.468																																					p.Q1243X													.	.			0			c.C3727T												120	118	119					3																	4730230		1904	4124	6028	SO:0001587	stop_gained	3708	exon31			TTTTTGCAGAATT	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.3709C>T	3.37:g.4730230C>T	ENSP00000401671:p.Gln1237*		65	0	0		50	0.06	3	NM_001099952	2	0	0	E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	44	10.686949	0.99450	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.1808	0.93622	0.0:1.0:0.0:0.0	.	.	.	.	X	1252;1237;1252;1243;1243;1228;1237	.	ENSP00000306253:Q1237X	Q	+	1	0	ITPR1	4705230	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.673000	0.83973	2.518000	0.84900	0.655000	0.94253	CAG			0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337982.3		NM_002222		T	4730230	C	T	4730230	4	4	111	1	0	0	0	0	0	1	0	0	7935	711	25	2	3868	2	ITPR1	3	4730230	Nonsense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10		4730230	193292200	15	8299											
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	4810414	4810414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcctccgcttccttcAgctcctgtgtgaaaaccaca	8	10	6	17	1	1	1	1	1	0	0	5	1	5	1	6	0	2	2	6	0	2	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr3:4810414A>G	ENST00000443694.2	+	43	5900	c.5900A>G	c.(5899-5901)cAg>cGg	p.Q1967R	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.Q1967R|ITPR1_ENST00000302640.8_Missense_Mutation_p.Q1967R|ITPR1_ENST00000456211.2_Missense_Mutation_p.Q1919R|ITPR1_ENST00000357086.4_Missense_Mutation_p.Q1934R|ITPR1_ENST00000423119.2_Missense_Mutation_p.Q1934R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1982					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)	CGCTTCCTTCAGCTCCTGTGT	0.647																																					p.Q1967R													.	.			0			c.A5900G												68	75	72					3																	4810414		2126	4262	6388	SO:0001583	missense	3708	exon45			TCCTTCAGCTCCT	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.5900A>G	3.37:g.4810414A>G	ENSP00000401671:p.Gln1967Arg		267	0	0		189	0.23	43	NM_001168272	15	0.13	2	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612596	0.87258	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51;-5.51;-5.51	4.88	4.88	0.63580	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.87578	0.998;0.835	D	0.99293	1.0899	10	0.59425	D	0.04	.	14.5205	0.67847	1.0:0.0:0.0:0.0	.	1982;1934	Q14643;G5E9P1	ITPR1_HUMAN;.	R	1982;1967;1967;1934;428;1934;1919;1967	ENSP00000306253:Q1967R;ENSP00000346595:Q1967R;ENSP00000405934:Q1934R;ENSP00000349597:Q1934R;ENSP00000397885:Q1919R;ENSP00000401671:Q1967R	ENSP00000306253:Q1967R	Q	+	2	0	ITPR1	4785414	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.140000	0.94607	1.842000	0.53543	0.377000	0.23210	CAG			0.647	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337982.3		NM_002222		G	4810414	A	G	4810414	3	3	111	1	0	0	0	0	1	0	0	0	7935	188	7	4	6119	4	ITPR1	3	4810414	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10	80184	4810414	193212016	16	8300											
C3orf36	80111	mdanderson.org	37	chr3	133647172	133647172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaattagttgccccgctctgCcttgagactgagactttctg	8	13	9	11	1	2	2	0	2	2	2	2	4	2	2	3	0	2	2	3	0	2	4			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr3:133647172C>T	ENST00000408895.2	-	1	1484	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	159										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						CCCCGCTCTGCCTTGAGACTG	0.517																																					p.G159D													.	.			0			c.G476A												67	75	72					3																	133647172		2203	4300	6503	SO:0001583	missense	80111	exon1			GCTCTGCCTTGAG	AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.476G>A	3.37:g.133647172C>T	ENSP00000386219:p.Gly159Asp		50	0	0		40	0.08	3	NM_025041	0		0	Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	C	9.612	1.131416	0.21041	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.25	0.41	0.16387	.	.	.	.	.	T	0.14787	0.0357	N	0.08118	0	0.09310	N	1	P	0.38800	0.648	B	0.39152	0.292	T	0.14727	-1.0462	8	0.87932	D	0	.	4.2897	0.10872	0.0:0.6453:0.0:0.3547	.	159	Q3SXR2	CC036_HUMAN	D	159	.	ENSP00000386219:G159D	G	-	2	0	C3orf36	135129862	0.000000	0.05858	0.007000	0.13788	0.031000	0.12232	0.139000	0.16036	0.078000	0.16900	0.462000	0.41574	GGC			0.517	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_025041		T	133647172	C	T	133647172	3	4	111	1	0	0	0	0	1	0	0	0	2228	739	26	2	25	2	C3orf36	3	133647172	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	128836758	133647172	64375258	17	8301											
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.E545K	Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	PIK3CA_ENST00000263967,NS,carcinoma,0,1370	PIK3CA_ENST00000263967	0	1370	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	c.G1633A												61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290	exon10			ATCACTGAGCAGG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		348	0	0		315	0.26	81	NM_006218	38	0.34	13	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG			0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000348409.2				A	178936091	G	A	178936091	3	1	111	1	0	0	0	0	1	0	0	0	11930	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	45288919	178936091	19086339	18	8302											
HOPX	84525	mdanderson.org	37	chr4	57522142	57522142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccacctggtcctctgtggGgccgctcgcggtctccgccg	1	10	13	17	5	2	0	0	0	2	0	6	0	4	0	6	4	0	1	6	4	0	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr4:57522142G>T	ENST00000337881.7	-	2	681	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	HOPX_ENST00000555760.2_Missense_Mutation_p.P9T|HOPX_ENST00000556376.2_Missense_Mutation_p.P9T|HOPX_ENST00000420433.1_Missense_Mutation_p.P27T|HOPX_ENST00000381260.3_Missense_Mutation_p.P9T|HOPX_ENST00000381255.3_Missense_Mutation_p.P9T|HOPX_ENST00000317745.7_Missense_Mutation_p.P9T|HOPX_ENST00000556614.2_Missense_Mutation_p.P9T|HOPX_ENST00000503639.3_Missense_Mutation_p.P9T|HOPX_ENST00000508121.1_Missense_Mutation_p.P27T|HOPX_ENST00000554144.1_Missense_Mutation_p.P27T|HOPX_ENST00000553379.2_Missense_Mutation_p.P9T	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	9					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					TCCTCTGTGGGGCCGCTCGCG	0.687																																					p.P27T													.	.			0			c.C79A												61	54	57					4																	57522142		2202	4300	6502	SO:0001583	missense	84525	exon3			CTGTGGGGCCGCT		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"Homeoboxes / PRD class"	24961	protein-coding gene	gene with protein product	"homeobox only domain"	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.25C>A	4.37:g.57522142G>T	ENSP00000337330:p.Pro9Thr		26	0	0		42	0.07	3	NM_001145460	9	0	0	A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	ENST00000337881.7	37	CCDS3507.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887207	0.33348	.	.	ENSG00000171476	ENST00000420433;ENST00000554144;ENST00000508121;ENST00000556376;ENST00000553379;ENST00000381260;ENST00000381255;ENST00000317745;ENST00000503639;ENST00000503864;ENST00000337881;ENST00000555760;ENST00000556614;ENST00000509435;ENST00000514890;ENST00000506661;ENST00000557328	D;D;D;D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	4.67	4.67	0.58626	Homeobox (2);Homeodomain-like (1);	0.263406	0.34200	N	0.004176	D	0.96855	0.8973	L	0.50333	1.59	0.47698	D	0.999494	D;P;P	0.71674	0.998;0.951;0.761	D;P;B	0.68943	0.961;0.772;0.239	D	0.96953	0.9696	10	0.59425	D	0.04	-18.7351	13.0775	0.59095	0.0:0.0:1.0:0.0	.	27;27;9	G3V294;E9PB55;Q9BPY8	.;.;HOP_HUMAN	T	27;27;27;9;9;9;9;9;9;9;9;9;9;9;9;9;9	ENSP00000396275:P27T;ENSP00000422175:P27T;ENSP00000451794:P9T;ENSP00000452340:P9T;ENSP00000370654:P9T;ENSP00000315198:P9T;ENSP00000424101:P9T;ENSP00000337330:P9T;ENSP00000452098:P9T;ENSP00000452003:P9T	ENSP00000315198:P9T	P	-	1	0	HOPX	57216899	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	6.937000	0.75898	2.128000	0.65567	0.491000	0.48974	CCC			0.687	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250689.4				T	57522142	G	T	57522142	3	4	111	1	0	0	0	0	1	0	0	0	7300	1232	43	3	338	3	HOPX	4	57522142	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		57522142	133632134	19	8303											
COX18	285521	broad.mit.edu;mdanderson.org	37	chr4	73935349	73935349	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccgcagccaccgaccGccgagccggcacagcatttc	8	3	12	18	6	0	0	0	0	0	0	1	2	0	0	6	2	4	3	6	2	0	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr4:73935349G>A	ENST00000295890.4	-	1	109	c.18C>T	c.(16-18)ggC>ggT	p.G6G	COX18_ENST00000507544.2_Silent_p.G6G|COX18_ENST00000421792.2_5'UTR	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	6					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCACCGACCGCCGAGCCGGC	0.701																																					p.G6G													.	COX18	20		0			c.C18T												3	3	3					4																	73935349		1617	3517	5134	SO:0001819	synonymous_variant	285521	exon1			CCGACCGCCGAGC	AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"Mitochondrial respiratory chain complex assembly factors"	26801	protein-coding gene	gene with protein product		610428	"COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)", "cytochrome c oxidase assembly homolog 18 (yeast)"			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.18C>T	4.37:g.73935349G>A			15	0	0		14	0.29	4	NM_173827	20	0.25	5	Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Silent	SNP	ENST00000295890.4	37	CCDS3554.1																																																																																					0.701	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000252169.2		NM_173827		A	73935349	G	A	73935349	2	1	111	1	0	0	0	0	0	0	0	1	3769	1074	38	1		1	COX18	4	73935349	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	16413207	73935349	117218927	20	8304											
SDHA	6389	hgsc.bcm.edu	37	chr5	256508	256508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgaggctgactgtgccacCgtcccgccagccattcgctc	7	7	10	17	4	0	1	0	1	0	0	3	2	1	1	5	1	3	2	5	1	1	1	rs3211499		TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr5:256508C>T	ENST00000264932.6	+	15	2083	c.1968C>T	c.(1966-1968)acC>acT	p.T656T	SDHA_ENST00000510361.1_Silent_p.T608T|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Silent_p.T575T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	656					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCCACCGTCCCGCCAG	0.438									Familial Paragangliomas																												p.T656T													SDHA,NS,carcinoma,+2,1	SDHA	2	1	0			c.C1968T												70	78	75					5																	256508		2203	4300	6503	SO:0001819	synonymous_variant	6389	exon15	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	TGCCACCGTCCCG	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1968C>T	5.37:g.256508C>T			161	0.0062111801	1		104	0.06	6	NM_004168	193	0.01	2	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	CCDS3853.1																																																																																					0.438	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206599.1		NM_004168		T	256508	C	T	256508	2	4	111	1	0	0	0	0	0	0	0	1	13986	639	23	1		1	SDHA	5	256508	Silent	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10		256508	180658752	21	8305											
CTNND2	1501	mdanderson.org	37	chr5	11098816	11098816	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccacagcatctggatcccTtttggtggttcagcacagtc	7	12	10	12	0	2	0	1	0	1	0	4	1	3	1	2	3	3	3	2	3	0	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr5:11098816T>C	ENST00000304623.8	-	15	2697	c.2508A>G	c.(2506-2508)aaA>aaG	p.K836K	CTNND2_ENST00000458100.2_Silent_p.K403K|CTNND2_ENST00000503622.1_Silent_p.K499K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000511377.1_Silent_p.K745K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	836					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						TCTGGATCCCTTTTGGTGGTT	0.517																																					p.K836K													.	.			0			c.A2508G												147	133	138					5																	11098816		2203	4300	6503	SO:0001819	synonymous_variant	1501	exon15			GATCCCTTTTGGT	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.2508A>G	5.37:g.11098816T>C			86	0	0		52	0.06	3	NM_001332	5	0	0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																					0.517	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206999.1		NM_001332		C	11098816	T	C	11098816	2	2	111	1	0	0	0	0	0	0	0	1	4022	1606	56	4		4	CTNND2	5	11098816	Silent	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10	10842308	11098816	169816444	22	8306											
PDZD2	23037	mdanderson.org	37	chr5	32089541	32089541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagcctgttcctgagcaagGcatgtggagcaggttccaca	10	8	12	11	0	0	1	0	1	0	0	2	2	2	2	3	3	3	5	3	3	2	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr5:32089541G>T	ENST00000438447.1	+	20	6375	c.5987G>T	c.(5986-5988)gGc>gTc	p.G1996V	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1996V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1996					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						CCTGAGCAAGGCATGTGGAGC	0.587																																					p.G1996V													.	.			0			c.G5987T												112	110	111					5																	32089541		2203	4300	6503	SO:0001583	missense	23037	exon19			AGCAAGGCATGTG	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.5987G>T	5.37:g.32089541G>T	ENSP00000402033:p.Gly1996Val		55	0	0		31	0.1	3	NM_178140	3	0	0	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434409	0.43224	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09630	2.96;2.96	3.86	0.87	0.19102	.	0.319207	0.22988	N	0.053222	T	0.17365	0.0417	L	0.59436	1.845	0.20975	N	0.999815	D	0.63880	0.993	P	0.59643	0.861	T	0.08597	-1.0714	10	0.56958	D	0.05	.	2.3162	0.04199	0.1102:0.1925:0.4991:0.1982	.	1996	O15018	PDZD2_HUMAN	V	1996;1797;1996	ENSP00000402033:G1996V;ENSP00000282493:G1996V	ENSP00000282493:G1996V	G	+	2	0	PDZD2	32125298	0.049000	0.20398	0.002000	0.10522	0.004000	0.04260	0.983000	0.29552	0.163000	0.19507	-0.157000	0.13467	GGC			0.587	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366608.1				T	32089541	G	T	32089541	3	4	111	1	0	0	0	0	1	0	0	0	11718	1203	42	2	6061	2	PDZD2	5	32089541	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	20990725	32089541	148825719	23	8307											
DND1	373863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140052912	140052912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccaggcggatgcctGtctccctgacccacgcctcc	5	7	9	20	2	1	1	0	1	1	0	3	2	2	2	7	2	2	1	7	2	0	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr5:140052912G>T	ENST00000542735.1	-	2	129	c.86C>A	c.(85-87)aCa>aAa	p.T29K	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	29					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGATGCCTGTCTCCCTGAC	0.647																																					p.T29K													.	.			0			c.C86A												61	61	61					5																	140052912		2203	4300	6503	SO:0001583	missense	373863	exon2			ATGCCTGTCTCCC	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"RNA binding motif (RRM) containing"	23799	protein-coding gene	gene with protein product		609385	"dead end homolog 1 (zebrafish)"			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.86C>A	5.37:g.140052912G>T	ENSP00000445366:p.Thr29Lys		82	0	0		46	0.39	18	NM_194249	317	0.41	131		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807228	0.70797	.	.	ENSG00000256453	ENST00000542735	T	0.40225	1.04	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000004	T	0.66694	0.2815	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.73132	-0.4079	10	0.66056	D	0.02	-5.2316	17.1476	0.86770	0.0:0.0:1.0:0.0	.	29	Q8IYX4	DND1_HUMAN	K	29	ENSP00000445366:T29K	ENSP00000445366:T29K	T	-	2	0	DND1	140033096	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	2.926000	0.48892	2.358000	0.79984	0.462000	0.41574	ACA			0.647	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251669.2		NM_194249		T	140052912	G	T	140052912	3	4	111	1	0	0	0	0	1	0	0	0	4671	1377	48	3	987	3	DND1	5	140052912	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	107963371	140052912	40862348	24	8308											
TCOF1	6949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	149776279	149776279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaggagaagaaagggaagGggtctcttggctcccaaggg	12	6	16	7	0	2	2	1	0	1	2	4	4	3	3	1	6	0	1	1	6	5	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr5:149776279G>T	ENST00000504761.2	+	24	4216	c.4216G>T	c.(4216-4218)Ggg>Tgg	p.G1406W	TCOF1_ENST00000377797.3_Missense_Mutation_p.G1407W|TCOF1_ENST00000513346.1_Missense_Mutation_p.G1406W|TCOF1_ENST00000323668.7_Missense_Mutation_p.G1329W|TCOF1_ENST00000445265.2_Missense_Mutation_p.G1330W|TCOF1_ENST00000439160.2_Missense_Mutation_p.G1369W|TCOF1_ENST00000451292.1_Missense_Mutation_p.G1443W			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1406					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAGGGAAGGGGTCTCTTGG	0.542																																					p.G1406W													.	.			0			c.G4216T												25	22	23					5																	149776279		2203	4300	6503	SO:0001583	missense	6949	exon24			GGGAAGGGGTCTC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.4216G>T	5.37:g.149776279G>T	ENSP00000421655:p.Gly1406Trp		131	0	0		61	0.25	15	NM_001135243	343	0.49	168	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261438	0.39995	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.80480	-1.36;-1.35;-1.35;-1.36;-1.38;-1.38;-1.35;-1.38	4.42	4.42	0.53409	.	0.382221	0.19111	N	0.122433	D	0.84188	0.5417	L	0.38175	1.15	0.27211	N	0.959914	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79108	0.992;0.992;0.992;0.97;0.992	T	0.77164	-0.2688	10	0.87932	D	0	-10.6252	12.8881	0.58055	0.0:0.0:1.0:0.0	.	1369;1329;1368;1406;1330	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	W	1443;1407;1330;1329;1369;1368;1406;1406	ENSP00000400939:G1443W;ENSP00000367028:G1407W;ENSP00000409944:G1330W;ENSP00000325223:G1329W;ENSP00000406888:G1369W;ENSP00000390717:G1368W;ENSP00000421655:G1406W;ENSP00000427484:G1406W	ENSP00000325223:G1329W	G	+	1	0	TCOF1	149756472	0.914000	0.31030	0.911000	0.35937	0.237000	0.25408	2.119000	0.41958	2.160000	0.67779	0.561000	0.74099	GGG			0.542	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000380552.1		NM_001008656		T	149776279	G	T	149776279	3	4	111	1	0	0	0	0	1	0	0	0	15731	1232	43	3	4335	3	TCOF1	5	149776279	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	9723367	149776279	31138981	25	8309											
DDX41	51428	mdanderson.org	37	chr5	176938912	176938912	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacccaggcccccgcagaaGgcacagccgcgctctcctgg	7	4	12	18	3	1	2	0	1	1	1	2	2	1	2	5	3	1	3	5	3	1	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr5:176938912G>T	ENST00000507955.1	-	17	2272	c.1749C>A	c.(1747-1749)gcC>gcA	p.A583A	DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000501403.2_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	583					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					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)|Epithelial(233;0.191)			CCCCGCAGAAGGCACAGCCGC	0.647																																					p.A583A													.	.			0			c.C1749A												57	58	58					5																	176938912		2203	4300	6503	SO:0001819	synonymous_variant	51428	exon17			GCAGAAGGCACAG	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1749C>A	5.37:g.176938912G>T			50	0	0		23	0.09	2	NM_016222	281	0	0	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Silent	SNP	ENST00000507955.1	37	CCDS4427.1																																																																																					0.647	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253432.2		NM_016222		T	176938912	G	T	176938912	2	4	111	1	0	0	0	0	0	0	0	1	4363	987	35	3		3	DDX41	5	176938912	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	27162633	176938912	3976348	26	8310											
DEK	7913	bcgsc.ca	37	chr6	18264096	18264096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctcctcctcctcctcCtcgtcgtcctcgtcctcttc	0	17	3	21	3	1	0	0	0	1	0	13	0	9	0	8	0	0	0	8	0	0	3	rs147127829	byFrequency	TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr6:18264096C>G	ENST00000397239.3	-	2	570	c.123G>C	c.(121-123)gaG>gaC	p.E41D	DEK_ENST00000244776.7_Missense_Mutation_p.E41D	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	41	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			cctcctcctcctcgtcgtcct	0.562			T	NUP214	AML								C|||	10	0.00199681	0.0068	0	5008	,	,		14423	0		0	False		,,,				2504	0.001				p.E41D				Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	.	DEK	31		0			c.G123C							-	ASP/GLU,ASP/GLU	8,4398	14.3+/-33.2	0,8,2195	43	47	45		123,123	-3.7	0.1	6	dbSNP_134	45	0,8600		0,0,4300	yes	missense,missense	DEK	NM_001134709.1,NM_003472.3	45,45	0,8,6495	GG,GC,CC		0.0,0.1816,0.0615	benign,benign	41/342,41/376	18264096	8,12998	2203	4300	6503	SO:0001583	missense	7913	exon2			CTCCTCCTCGTCG	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.123G>C	6.37:g.18264096C>G	ENSP00000380414:p.Glu41Asp		129	0.015503876	2		107	0.06	6	NM_003472	141	0.01	2	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.267	0.417416	0.11870	0.001816	0.0	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000515742	T;T;T	0.51817	0.76;0.85;0.69	4.57	-3.65	0.04502	.	0.440668	0.20131	N	0.098587	T	0.09598	0.0236	L	0.48642	1.525	0.22880	N	0.998611	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38585	-0.9654	10	0.12766	T	0.61	-5.206	1.3254	0.02124	0.2162:0.3697:0.1081:0.306	.	41;41	B4DN37;P35659	.;DEK_HUMAN	D	41;41;46	ENSP00000380414:E41D;ENSP00000244776:E41D;ENSP00000423553:E46D	ENSP00000244776:E41D	E	-	3	2	DEK	18372075	0.003000	0.15002	0.050000	0.19076	0.529000	0.34654	-2.192000	0.01245	-1.460000	0.01911	-2.294000	0.00264	GAG			0.562	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039962.4				G	18264096	C	G	18264096	3	3	111	1	0	0	0	0	1	0	0	0	4429	680	24	5	1044	5	DEK	6	18264096	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10		18264096	152850971	27	8311											
HIST1H3C	8352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	26045834	26045834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagctgctgatccggaagCtgccgttccagcgcctggtg	5	8	14	14	4	0	1	0	1	0	0	2	3	2	2	5	2	5	4	5	2	1	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr6:26045834C>T	ENST00000540144.1	+	1	196	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	66					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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GATCCGGAAGCTGCCGTTCCA	0.632																																					p.L66L													.	.			0			c.C196T												48	51	50					6																	26045834		2203	4300	6503	SO:0001819	synonymous_variant	8352	exon1			CGGAAGCTGCCGT	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.196C>T	6.37:g.26045834C>T			118	0	0		100	0.27	27	NM_003531	135	0.27	37	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000540144.1	37	CCDS4576.1																																																																																					0.632	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040078.1		NM_003531		T	26045834	C	T	26045834	2	4	111	1	0	0	0	0	0	0	0	1	7172	796	28	2		2	HIST1H3C	6	26045834	Silent	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	7781738	26045834	145069233	28	8312											
PI16	221476	mdanderson.org	37	chr6	36926939	36926939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagatgggacgaggagctgGccgccttcgccaaggcctac	9	5	15	12	3	0	1	0	0	0	1	1	5	0	3	4	4	2	1	4	4	2	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr6:36926939G>A	ENST00000373674.3	+	2	518	c.190G>A	c.(190-192)Gcc>Acc	p.A64T		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	64	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGAGGAGCTGGCCGCCTTCGC	0.652																																					p.A64T													.	.			0			c.G190A												21	18	19					6																	36926939		2196	4297	6493	SO:0001583	missense	221476	exon2			GAGCTGGCCGCCT		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.190G>A	6.37:g.36926939G>A	ENSP00000362778:p.Ala64Thr		63	0	0		36	0.08	3	NM_153370	5	0	0	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440042	0.96168	.	.	ENSG00000164530	ENST00000536757;ENST00000373674	T	0.09630	2.96	5.29	5.29	0.74685	CAP domain (3);	0.346678	0.27031	N	0.021275	T	0.21718	0.0523	M	0.81497	2.545	0.42263	D	0.992026	P;D	0.56035	0.895;0.974	P;P	0.54100	0.742;0.736	T	0.02190	-1.1198	10	0.66056	D	0.02	.	18.5179	0.90942	0.0:0.0:1.0:0.0	.	64;64	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	T	64	ENSP00000362778:A64T	ENSP00000362778:A64T	A	+	1	0	PI16	37034917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.936000	0.75892	2.462000	0.83206	0.511000	0.50034	GCC			0.652	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040380.1		NM_153370		A	36926939	G	A	36926939	3	1	111	1	0	0	0	0	1	0	0	0	11886	1203	42	2	196	2	PI16	6	36926939	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	10881105	36926939	134188128	29	8313											
COL12A1	1303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	75904580	75904580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgttattctgtaacccaCaattggatcaactggttttg	10	14	7	10	1	2	0	1	0	1	0	2	1	2	1	2	2	2	3	2	2	4	6			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr6:75904580C>A	ENST00000322507.8	-	3	466	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	COL12A1_ENST00000416123.2_Missense_Mutation_p.V53L|COL12A1_ENST00000483888.2_Missense_Mutation_p.V53L|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	53	Fibronectin type-III 1. {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						CTGTAACCCACAATTGGATCA	0.393																																					p.V53L													.	.			0			c.G157T												125	118	120					6																	75904580		1834	4092	5926	SO:0001583	missense	1303	exon3			AACCCACAATTGG	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.157G>T	6.37:g.75904580C>A	ENSP00000325146:p.Val53Leu		92	0	0		114	0.24	27	NM_004370	0		0	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723632	0.30593	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.56444	0.46;0.46;0.46	5.77	2.0	0.26442	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.420350	0.22376	N	0.060871	T	0.13329	0.0323	N	0.22421	0.69	0.27037	N	0.964117	B	0.21225	0.053	B	0.15484	0.013	T	0.23332	-1.0191	10	0.28530	T	0.3	.	5.0786	0.14644	0.2539:0.5499:0.0:0.1963	.	53	Q99715	COCA1_HUMAN	L	53	ENSP00000325146:V53L;ENSP00000412864:V53L;ENSP00000421216:V53L	ENSP00000325146:V53L	V	-	1	0	COL12A1	75961300	1.000000	0.71417	0.994000	0.49952	0.890000	0.51754	0.585000	0.23879	0.078000	0.16900	-0.919000	0.02742	GTG			0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041249.3		NM_004370		A	75904580	C	A	75904580	3	1	111	1	0	0	0	0	1	0	0	0	3671	478	17	3	9290	3	COL12A1	6	75904580	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	38977641	75904580	95210487	30	8314											
FRMD1	79981	mdanderson.org	37	chr6	168479734	168479734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtgtcagggtttgtcCgggcggggtctatgcccctc	4	10	16	11	3	2	0	1	0	1	0	4	1	3	1	3	5	2	1	3	5	2	2	rs148792644	byFrequency	TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr6:168479734C>T	ENST00000283309.6	-	1	105	c.41G>A	c.(40-42)cGg>cAg	p.R14Q		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	14						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		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)		AGGGTTTGTCCGGGCGGGGTC	0.667													c|||	2	0.000399361	0.0015	0	5008	,	,		15283	0		0	False		,,,				2504	0				p.R14Q	GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												.	.			0			c.G41A								GLN/ARG	0,4406		0,0,2203	57	54	55		41	-3.1	0	6	dbSNP_134	55	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FRMD1	NM_024919.3	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	14/550	168479734	4,13002	2203	4300	6503	SO:0001583	missense	79981	exon1			TTTGTCCGGGCGG		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.41G>A	6.37:g.168479734C>T	ENSP00000283309:p.Arg14Gln		56	0	0		45	0.07	3	NM_024919	0		0	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	CCDS5306.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.915	-0.449746	0.04572	0.0	4.65E-4	ENSG00000153303	ENST00000283309	D	0.83992	-1.79	1.57	-3.14	0.05250	.	.	.	.	.	T	0.35219	0.0924	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	9	0.21014	T	0.42	.	3.7437	0.08540	0.1739:0.379:0.0:0.447	.	14	Q8N878	FRMD1_HUMAN	Q	14	ENSP00000283309:R14Q	ENSP00000283309:R14Q	R	-	2	0	FRMD1	168222583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.758000	0.01810	-1.188000	0.02705	-2.024000	0.00429	CGG	0		0.667	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362513.2		NM_024919		T	168479734	C	T	168479734	3	4	111	1	0	0	0	0	1	0	0	0	6062	652	23	1	1665	1	FRMD1	6	168479734	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	92575154	168479734	2635333	31	8315											
C7orf16	10842	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr7	31735181	31735181	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatgttgagtcagaccaaAaaaaaccaaggaggaaagat	20	6	10	5	0	1	4	1	2	0	2	1	6	1	6	2	2	1	1	2	2	7	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr7:31735181A>T	ENST00000342032.3	+	3	809	c.181A>T	c.(181-183)Aaa>Taa	p.K61*	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	61					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GTCAGACCAAAAAAAACCAAG	0.448																																					p.K61X													.	.			0			c.A181T												143	139	141					7																	31735181		2203	4300	6503	SO:0001587	stop_gained	10842	exon3			GACCAAAAAAAAC	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.181A>T	7.37:g.31735181A>T	ENSP00000340125:p.Lys61*		143	0	0		228	0.08	18	NM_006658	0		0	B4DE58|Q9UDQ0	Nonsense_Mutation	SNP	ENST00000342032.3	37	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	44	10.662890	0.99445	.	.	ENSG00000106341	ENST00000342032	.	.	.	5.45	5.45	0.79879	.	0.062789	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6829	15.4777	0.75497	1.0:0.0:0.0:0.0	.	.	.	.	X	61	.	ENSP00000340125:K61X	K	+	1	0	C7orf16	31701706	1.000000	0.71417	0.952000	0.39060	0.998000	0.95712	6.381000	0.73163	2.195000	0.70347	0.533000	0.62120	AAA			0.448	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250498.1		NM_006658		T	31735181	A	T	31735181	4	4	111	1	0	0	0	0	0	1	0	0	2380	15	1	5	187	5	C7orf16	7	31735181	Nonsense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10		31735181	127403482	32	8316											
C7orf58	79974	broad.mit.edu;bcgsc.ca	37	chr7	120782123	120782149	+	In_Frame_Del	DEL	ACTCACCATCTATAGAGAAGACCGCCC	ACTCACCATCTATAGAGAAGACCGCCC	-																															gagactctgatcacgtacaaActcaccatctatagagaaga																										TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	ACTCACCATCTATAGAGAAGACCGCCC	ACTCACCATCTATAGAGAAGACCGCCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr7:120782123_120782149delACTCACCATCTATAGAGAAGACCGCCC	ENST00000310396.5	+	16	2450_2476	c.1983_2009delACTCACCATCTATAGAGAAGACCGCCC	c.(1981-2010)aaactcaccatctatagagaagaccgccca>aaa	p.LTIYREDRP662del	CPED1_ENST00000450913.2_In_Frame_Del_p.LTIYREDRP662del|CPED1_ENST00000423795.1_In_Frame_Del_p.LTIYREDRP442del	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	662						endoplasmic reticulum (GO:0005783)		p.R669H(1)|p.P670Q(1)|p.P670S(1)									TCACGTACAAACTCACCATCTATAGAGAAGACCGCCCAAGTCTGCCC	0.458																																					p.661_670del													.	.			3	Substitution - Missense(3)	large_intestine(1)|lung(1)|kidney(1)	c.1983_2009del																																									SO:0001651	inframe_deletion	79974	exon15			GTACAAACTCACC		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1983_2009delACTCACCATCTATAGAGAAGACCGCCC	7.37:g.120782123_120782149delACTCACCATCTATAGAGAAGACCGCCC	ENSP00000309772:p.Leu662_Pro670del		116	0	0		118	0.07	8	NM_001105533	1	0	0	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	In_Frame_Del	DEL	ENST00000310396.5	37	CCDS34739.1																																																																																					0.458	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346959.1		NM_024913		-	120782149	ACTCACCATCTATAGAGAAGACCGCCC	-	120782123	7	5	111	1	0	1	0	1	0	0	0	0	2407	40	2	0	2041	0	C7orf58	7	120782123	In_Frame_Del	DEL	ACTCACCATCTATAGAGAAGACCGCCC	TCGA-XE-A8H5-01A-11D-A435-10	89046942	120782123	38356540	33	8317											
C7orf29	113763	mdanderson.org	37	chr7	150027939	150027939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggagaagccagggggAgcctctgcagagcagcagcc	10	2	19	10	0	1	2	0	0	1	2	1	5	1	4	3	5	6	3	3	5	1	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr7:150027939A>G	ENST00000343855.4	+	1	1002	c.446A>G	c.(445-447)gAg>gGg	p.E149G	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	149																	AGCCAGGGGGAGCCTCTGCAG	0.662																																					p.E149G													.	.			0			c.A446G												14	18	17					7																	150027939		2191	4275	6466	SO:0001583	missense	113763	exon1			AGGGGGAGCCTCT	BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"chromosome 7 open reading frame 29"	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.446A>G	7.37:g.150027939A>G	ENSP00000343242:p.Glu149Gly		46	0.0217391304	1		23	0.09	2	NM_138434	11	0	0		Missense_Mutation	SNP	ENST00000343855.4	37	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	A	7.894	0.732912	0.15507	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.75	-0.0623	0.13781	.	.	.	.	.	T	0.20901	0.0503	N	0.19112	0.55	0.09310	N	1	B	0.32829	0.386	B	0.36666	0.23	T	0.24764	-1.0151	8	0.56958	D	0.05	.	1.7022	0.02875	0.5559:0.1744:0.101:0.1687	.	149	Q96FA7	CG029_HUMAN	G	149	.	ENSP00000343242:E149G	E	+	2	0	C7orf29	149658872	0.002000	0.14202	0.003000	0.11579	0.052000	0.14988	-0.116000	0.10724	0.113000	0.18004	0.456000	0.33151	GAG			0.662	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350702.1		NM_138434		G	150027939	A	G	150027939	3	3	111	1	0	0	0	0	1	0	0	0	2387	304	11	4	448	4	C7orf29	7	150027939	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10	29245816	150027939	9110724	34	8318											
AGAP3	116988	mdanderson.org	37	chr7	150813895	150813895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagactcgtttgtgaacaGccaggagtggacgctgagcc	9	7	14	11	3	0	3	0	2	0	1	1	5	0	5	2	2	3	3	2	2	1	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr7:150813895G>T	ENST00000397238.2	+	2	347	c.347G>T	c.(346-348)aGc>aTc	p.S116I	AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000479901.1_Missense_Mutation_p.S116I|AGAP3_ENST00000473312.1_Missense_Mutation_p.S116I|AGAP3_ENST00000335367.3_Missense_Mutation_p.S296I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	80	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TTTGTGAACAGCCAGGAGTGG	0.657																																					p.S116I													.	.			0			c.G347T												66	73	71					7																	150813895		2150	4267	6417	SO:0001583	missense	116988	exon2			TGAACAGCCAGGA	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.347G>T	7.37:g.150813895G>T	ENSP00000380413:p.Ser116Ile		74	0	0		45	0.07	3	NM_031946	20	0	0	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	CCDS43681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.965386|4.965386	0.92855|0.92855	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000469901|ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355;ENST00000335367	.|D;D;T;D	.|0.90732	.|-2.35;-2.44;-0.86;-2.72	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95046|0.95046	0.8396|0.8396	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.998;0.997;0.997;1.0	.|D;D;D;D	.|0.79784	.|0.985;0.979;0.931;0.993	D|D	0.95794|0.95794	0.8827|0.8827	5|10	.|0.87932	.|D	.|0	.|.	15.4575|15.4575	0.75327|0.75327	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|116;296;116;116	.|C9J975;E7ESL9;Q96P47-4;E9PAL8	.|.;.;.;.	S|I	52|116;116;116;80;296	.|ENSP00000418921:S116I;ENSP00000418125:S116I;ENSP00000380413:S116I;ENSP00000335589:S296I	.|ENSP00000334157:S80I	A|S	+|+	1|2	0|0	AGAP3|AGAP3	150444828|150444828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.187000|5.187000	0.65087|0.65087	2.123000|2.123000	0.65237|0.65237	0.400000|0.400000	0.26472|0.26472	GCC|AGC			0.657	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351908.3		NM_031946		T	150813895	G	T	150813895	3	4	111	1	0	0	0	0	1	0	0	0	369	971	34	2	353	2	AGAP3	7	150813895	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	785956	150813895	8324768	35	8319											
SNTG1	54212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	51503445	51503445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttatcattgcagattaaaAaaatcaacagaaactttcct	18	13	3	7	0	2	2	2	0	0	2	3	2	3	2	1	0	3	1	1	0	7	5	rs370352160		TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr8:51503445A>G	ENST00000522124.1	+	13	1478	c.817A>G	c.(817-819)Aaa>Gaa	p.K273E	SNTG1_ENST00000518864.1_Missense_Mutation_p.K273E|SNTG1_ENST00000276467.5_Missense_Mutation_p.K273E|SNTG1_ENST00000517473.1_Missense_Mutation_p.K273E	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	273					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCAGATTAAAAAAATCAACAG	0.269																																					p.K273E													.	.			0			c.A817G												18	20	19					8																	51503445		2185	4260	6445	SO:0001583	missense	54212	exon13			ATTAAAAAAATCA	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.817A>G	8.37:g.51503445A>G	ENSP00000429842:p.Lys273Glu		662	0.001510574	1		844	0.15	129	NM_018967	0		0	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307885	0.40895	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.25250	1.81;1.81;2.53;2.53	4.78	4.78	0.61160	.	0.196841	0.52532	D	0.000075	T	0.18635	0.0447	L	0.47716	1.5	0.49213	D	0.999768	B;B	0.28933	0.228;0.139	B;B	0.27076	0.076;0.04	T	0.03043	-1.1079	10	0.02654	T	1	.	10.726	0.46068	1.0:0.0:0.0:0.0	.	273;273	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	E	273	ENSP00000429276:K273E;ENSP00000429842:K273E;ENSP00000431123:K273E;ENSP00000276467:K273E	ENSP00000276467:K273E	K	+	1	0	SNTG1	51665998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.969000	0.49232	1.791000	0.52520	0.528000	0.53228	AAA			0.269	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377964.1				G	51503445	A	G	51503445	3	3	111	1	0	0	0	0	1	0	0	0	14897	15	1	4	859	4	SNTG1	8	51503445	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10		51503445	94860577	36	8320											
TATDN1	83940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	125520903	125520903	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtaattttgtttgttctGacagttcaaactgtttttca	8	21	7	5	0	3	1	2	1	1	0	3	1	3	1	0	1	1	5	0	1	2	9			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr8:125520903G>C	ENST00000276692.6	-	7	453	c.416C>G	c.(415-417)tCa>tGa	p.S139*	TATDN1_ENST00000519548.1_Nonsense_Mutation_p.S92*|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000605953.1_Nonsense_Mutation_p.S139*|TATDN1_ENST00000517678.1_Nonsense_Mutation_p.S85*	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	139					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)			TGTTTGTTCTGACAGTTCAAA	0.289																																					p.S139X													.	.			0			c.C416G												48	44	45					8																	125520903		2201	4292	6493	SO:0001587	stop_gained	83940	exon7			TGTTCTGACAGTT	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	ENST00000276692.6:c.416C>G	8.37:g.125520903G>C	ENSP00000276692:p.Ser139*		177	0	0		259	0.18	46	NM_032026	248	0.06	14	B2R5J0|Q8TD02|Q9BY40	Nonsense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	36	5.937770	0.97122	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678;ENST00000523888;ENST00000523152	.	.	.	5.72	5.72	0.89469	.	0.117768	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.3909	19.8917	0.96932	0.0:0.0:1.0:0.0	.	.	.	.	X	139;92;139;85;92;79	.	ENSP00000276692:S139X	S	-	2	0	TATDN1	125590084	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.156000	0.77453	2.705000	0.92388	0.591000	0.81541	TCA			0.289	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381655.1		NM_032026		C	125520903	G	C	125520903	4	2	111	1	0	0	0	0	0	1	0	0	15614	1294	45	5	501	5	TATDN1	8	125520903	Nonsense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	74017458	125520903	20843119	37	8321											
KCNK9	51305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	140630919	140630919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaccaggttgaggaaggccCcgatgaccgtcagccccacc	9	4	12	16	3	1	2	1	2	0	0	1	5	1	3	7	3	1	1	7	3	1	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr8:140630919C>T	ENST00000520439.1	-	2	770	c.707G>A	c.(706-708)gGg>gAg	p.G236E	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.G236E	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	236			G -> R (in BIBAS; inactive). {ECO:0000269|PubMed:18678320}.		cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GAGGAAGGCCCCGATGACCGT	0.597																																					p.G236E													.	.			0			c.G707A												46	51	50					8																	140630919		2203	4300	6503	SO:0001583	missense	51305	exon2			AAGGCCCCGATGA	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.707G>A	8.37:g.140630919C>T	ENSP00000430676:p.Gly236Glu		85	0	0		104	0.13	14	NM_016601	0		0	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541842	0.85917	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.32272	1.46;1.46;1.46	5.7	5.7	0.88788	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74754	-0.3558	10	0.54805	T	0.06	.	18.8306	0.92137	0.0:1.0:0.0:0.0	.	236	Q9NPC2	KCNK9_HUMAN	E	236	ENSP00000429847:G236E;ENSP00000302166:G236E;ENSP00000430676:G236E	ENSP00000302166:G236E	G	-	2	0	KCNK9	140700101	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.917000	0.69989	2.673000	0.90976	0.655000	0.94253	GGG			0.597	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378473.1		NM_016601		T	140630919	C	T	140630919	3	4	111	1	0	0	0	0	1	0	0	0	8087	623	22	3	421	3	KCNK9	8	140630919	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	15110016	140630919	5733103	38	8322											
ADAMTSL1	92949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	18775867	18775867	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttctcttcctccatcAggccctgtatgctggcaacc	5	13	7	16	0	2	0	1	0	1	0	5	0	4	0	5	2	3	3	5	2	2	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr9:18775867A>T	ENST00000380548.4	+	18	2863	c.2524A>T	c.(2524-2526)Agg>Tgg	p.R842W		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	842	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCCTCCATCAGGCCCTGTAT	0.572																																					p.R842W													.	.			0			c.A2524T												30	35	33					9																	18775867		1949	4141	6090	SO:0001583	missense	92949	exon18			TCCATCAGGCCCT	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2524A>T	9.37:g.18775867A>T	ENSP00000369921:p.Arg842Trp		83	0	0		62	0.21	13	NM_001040272	0		0	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.236761	0.79800	.	.	ENSG00000178031	ENST00000380548	T	0.64260	-0.09	5.81	4.7	0.59300	.	0.000000	0.08080	U	1.000000	D	0.83608	0.5291	M	0.93375	3.41	0.80722	D	1	D	0.65815	0.995	P	0.60789	0.879	T	0.82034	-0.0657	10	0.87932	D	0	.	13.9339	0.64012	0.8461:0.1539:0.0:0.0	.	842	Q8N6G6	ATL1_HUMAN	W	842	ENSP00000369921:R842W	ENSP00000369921:R842W	R	+	1	2	ADAMTSL1	18765867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.302000	0.43637	2.210000	0.71456	0.533000	0.62120	AGG			0.572	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401206.1				T	18775867	A	T	18775867	3	4	111	1	0	0	0	0	1	0	0	0	274	179	7	5	2598	5	ADAMTSL1	9	18775867	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10		18775867	122437564	39	8323											
TMOD1	7111	broad.mit.edu	37	chr9	100361953	100361953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggacctgactgggcccatCattcccaagtgccggagtgg	7	7	14	13	2	1	1	1	1	0	0	2	3	2	3	4	4	1	0	4	4	1	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr9:100361953C>G	ENST00000259365.4	+	10	1266	c.1053C>G	c.(1051-1053)atC>atG	p.I351M	TMOD1_ENST00000375175.1_Missense_Mutation_p.I224M|TMOD1_ENST00000395211.2_Missense_Mutation_p.I351M	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	351					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		CTGGGCCCATCATTCCCAAGT	0.532											OREG0019346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I351M													.	TMOD1	29		0			c.C1053G												223	169	187					9																	100361953		2203	4300	6503	SO:0001583	missense	7111	exon10			GCCCATCATTCCC		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.1053C>G	9.37:g.100361953C>G	ENSP00000259365:p.Ile351Met		114	0	0	1350	142	0.02	3	NM_001166116	70	0.01	1	B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842324	0.51057	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	T;T;T	0.27104	2.23;2.23;1.69	5.26	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.08118	0	0.46954	D	0.999261	P	0.46512	0.879	B	0.43478	0.421	T	0.07558	-1.0766	10	0.87932	D	0	-18.9141	10.7885	0.46419	0.0:0.7763:0.0:0.2237	.	351	P28289	TMOD1_HUMAN	M	351;351;224	ENSP00000378637:I351M;ENSP00000259365:I351M;ENSP00000364318:I224M	ENSP00000259365:I351M	I	+	3	3	TMOD1	99401774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.104000	0.31074	1.339000	0.45563	0.563000	0.77884	ATC			0.532	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053320.2		NM_003275		G	100361953	C	G	100361953	3	3	111	1	0	0	0	0	1	0	0	0	16256	816	29	5	1087	5	TMOD1	9	100361953	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	81586086	100361953	40851478	40	8324											
BAAT	570	broad.mit.edu	37	chr9	104133369	104133369	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaactctaagtcataaagTtttacttggacctggaaagg	14	13	8	6	0	2	0	1	0	1	0	2	2	2	2	1	3	2	1	1	3	6	6			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr9:104133369T>A	ENST00000395051.3	-	1	388	c.318A>T	c.(316-318)aaA>aaT	p.K106N	BAAT_ENST00000259407.2_Missense_Mutation_p.K106N			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	106					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGTCATAAAGTTTTACTTGGA	0.443																																					p.K106N													.	BAAT	52		0			c.A318T												93	95	94					9																	104133369		2203	4300	6503	SO:0001583	missense	570	exon2			ATAAAGTTTTACT	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.318A>T	9.37:g.104133369T>A	ENSP00000378491:p.Lys106Asn		176	0	0		195	0.03	6	NM_001127610	0		0	Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.386098	0.25031	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.70749	-0.51;-0.51	4.21	1.69	0.24217	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.748951	0.12591	N	0.455567	T	0.50939	0.1645	N	0.21194	0.64	0.09310	N	1	B	0.19331	0.035	B	0.20384	0.029	T	0.43163	-0.9408	10	0.54805	T	0.06	-9.1819	2.5251	0.04689	0.2005:0.2194:0.0:0.5801	.	106	Q14032	BAAT_HUMAN	N	106	ENSP00000259407:K106N;ENSP00000378491:K106N	ENSP00000259407:K106N	K	-	3	2	BAAT	103173190	0.000000	0.05858	0.279000	0.24732	0.023000	0.10783	-0.913000	0.04042	0.768000	0.33290	0.533000	0.62120	AAA			0.443	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053433.1				A	104133369	T	A	104133369	3	1	111	1	0	0	0	0	1	0	0	0	1280	1722	60	5	950	5	BAAT	9	104133369	Missense_Mutation	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10	3771416	104133369	37080062	41	8325											
FUBP3	8939	mdanderson.org	37	chr9	133510064	133510064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcgcacaggccagcagagCcagccgcagagcagccagcc	10	2	12	17	2	0	2	0	0	0	2	1	2	0	2	5	1	6	4	5	1	0	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr9:133510064C>T	ENST00000319725.9	+	17	1596	c.1521C>T	c.(1519-1521)agC>agT	p.S507S		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	507					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCCAGCAGAGCCAGCCGCAGA	0.627																																					p.S507S													.	.			0			c.C1521T												37	48	45					9																	133510064		2057	4205	6262	SO:0001819	synonymous_variant	8939	exon17			GCAGAGCCAGCCG	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1521C>T	9.37:g.133510064C>T			39	0	0		44	0.07	3	NM_003934	212	0	0	A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	ENST00000319725.9	37	CCDS43893.1																																																																																					0.627	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054666.1				T	133510064	C	T	133510064	2	4	111	1	0	0	0	0	0	0	0	1	6106	738	26	2		2	FUBP3	9	133510064	Silent	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	29376695	133510064	7703367	42	8326											
NOTCH1	4851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	139396539	139396539	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgaagcgttcttcagggGcctggggggtgaggggtcga	5	9	20	7	2	3	2	1	2	2	0	4	3	3	2	1	7	1	1	1	7	1	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr9:139396539G>T	ENST00000277541.6	-	29	5461	c.5386C>A	c.(5386-5388)Ccc>Acc	p.P1796T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1796					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTTCAGGGGCCTGGGGGGT	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.P1796T				Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	.			0			c.C5386A												52	58	56					9																	139396539		1906	4116	6022	SO:0001630	splice_region_variant	4851	exon29			TCAGGGGCCTGGG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5385-1C>A	9.37:g.139396539G>T			46	0	0		47	0.62	29	NM_017617	18	0.39	7	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263527	0.39995	.	.	ENSG00000148400	ENST00000277541	T	0.81415	-1.49	4.61	4.61	0.57282	.	0.055260	0.64402	D	0.000001	T	0.79269	0.4417	M	0.73753	2.245	0.80722	D	1	B	0.29766	0.256	B	0.25759	0.063	T	0.77378	-0.2610	10	0.26408	T	0.33	.	16.7746	0.85548	0.0:0.0:1.0:0.0	.	1796	P46531	NOTC1_HUMAN	T	1796	ENSP00000277541:P1796T	ENSP00000277541:P1796T	P	-	1	0	NOTCH1	138516360	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	9.093000	0.94163	2.277000	0.76020	0.549000	0.68633	CCC			0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055087.1		NM_017617	Missense_Mutation	T	139396539	G	T	139396539	5	4	111	1	0	0	0	0	0	0	1	0	10564	1217	42	2	2305	2	NOTCH1	9	139396539	Splice_Site	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	5886475	139396539	1816892	43	8327											
DIP2C	22982	mdanderson.org	37	chr10	395386	395386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgcaggtcagcgagttcgcTatcgcaccctgcgggccgat	7	7	13	14	6	1	0	1	0	0	0	3	2	1	0	2	2	2	4	2	2	1	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr10:395386T>C	ENST00000280886.6	-	25	3081	c.2994A>G	c.(2992-2994)atA>atG	p.I998M		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	998						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)		GCGAGTTCGCTATCGCACCCT	0.602																																					p.I998M													.	.			0			c.A2994G												105	83	91					10																	395386		2203	4300	6503	SO:0001583	missense	22982	exon25			GTTCGCTATCGCA	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.2994A>G	10.37:g.395386T>C	ENSP00000280886:p.Ile998Met		42	0	0		49	0.08	4	NM_014974	24	0	0	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.430871	0.25726	.	.	ENSG00000151240	ENST00000280886	T	0.40756	1.02	5.03	-2.01	0.07410	.	0.051609	0.64402	D	0.000001	T	0.28200	0.0696	N	0.14661	0.345	0.80722	D	1	B	0.25772	0.134	B	0.33392	0.163	T	0.13710	-1.0499	10	0.56958	D	0.05	-27.8585	15.3917	0.74751	0.0:0.0:0.4383:0.5617	.	998	Q9Y2E4	DIP2C_HUMAN	M	998	ENSP00000280886:I998M	ENSP00000280886:I998M	I	-	3	3	DIP2C	385386	0.647000	0.27304	0.846000	0.33378	0.302000	0.27658	-0.245000	0.08890	-0.285000	0.09089	-0.970000	0.02610	ATA			0.602	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046389.1		NM_014974		C	395386	T	C	395386	3	2	111	1	0	0	0	0	1	0	0	0	4534	1512	53	4	1728	4	DIP2C	10	395386	Missense_Mutation	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10		395386	135139361	44	8328											
ATOH7	220202	mdanderson.org	37	chr10	69991089	69991089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtagtggtcgcggccgaAgtgctcacagtggagaccca	9	6	16	10	3	1	1	1	0	0	1	2	4	1	1	2	4	1	2	2	4	2	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr10:69991089A>G	ENST00000373673.3	-	1	782	c.346T>C	c.(346-348)Ttc>Ctc	p.F116L	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	116					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|neural retina development (GO:0003407)|optic nerve development (GO:0021554)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)										TCGCGGCCGAAGTGCTCACAG	0.672																																					p.F116L													ATOH7,NS,carcinoma,+2,1	ATOH7	2	1	0			c.T346C												30	32	32					10																	69991089		2202	4299	6501	SO:0001583	missense	220202	exon1			GGCCGAAGTGCTC	AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774		"Basic helix-loop-helix proteins"	13907	protein-coding gene	gene with protein product		609875				11889557	Standard	NM_145178		Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.346T>C	10.37:g.69991089A>G	ENSP00000362777:p.Phe116Leu		28	0	0		48	0.06	3	NM_145178	3	0	0		Missense_Mutation	SNP	ENST00000373673.3	37	CCDS7276.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940252	0.52972	.	.	ENSG00000179774	ENST00000373673	D	0.97352	-4.35	4.75	3.63	0.41609	Helix-loop-helix DNA-binding (1);	0.716241	0.14171	N	0.336705	D	0.92551	0.7634	L	0.27053	0.805	0.31733	N	0.636769	B	0.02656	0.0	B	0.04013	0.001	D	0.87845	0.2654	9	.	.	.	-10.4922	9.3222	0.37971	0.9135:0.0:0.0865:0.0	.	116	Q8N100	ATOH7_HUMAN	L	116	ENSP00000362777:F116L	.	F	-	1	0	ATOH7	69661095	1.000000	0.71417	0.975000	0.42487	0.966000	0.64601	3.713000	0.54882	0.685000	0.31468	0.459000	0.35465	TTC			0.672	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048312.1				G	69991089	A	G	69991089	3	3	111	1	0	0	0	0	1	0	0	0	1113	72	3	4	116	4	ATOH7	10	69991089	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10	69595703	69991089	65543658	45	8329											
NEUROG3	50674	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	71332771	71332771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacgggtcacttggacaGtgggcgcacccgagggttga	7	8	15	11	3	2	1	2	1	1	0	3	3	2	2	1	4	0	2	1	4	0	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr10:71332771G>C	ENST00000242462.4	-	2	58	c.29C>G	c.(28-30)aCt>aGt	p.T10S	RP11-343J3.2_ENST00000428753.1_RNA	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	10					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|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)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CACTTGGACAGTGGGCGCACC	0.672																																					p.T10S													.	.			0			c.C29G												46	51	49					10																	71332771		2200	4299	6499	SO:0001583	missense	50674	exon2			TGGACAGTGGGCG	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.29C>G	10.37:g.71332771G>C	ENSP00000242462:p.Thr10Ser		46	0	0		31	0.23	7	NM_020999	0		0	Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	G	5.078	0.200030	0.09652	.	.	ENSG00000122859	ENST00000242462	D	0.94184	-3.37	3.68	1.71	0.24356	.	0.871271	0.09503	U	0.793302	D	0.86887	0.6041	L	0.29908	0.895	0.09310	N	0.999998	B	0.11235	0.004	B	0.08055	0.003	T	0.71823	-0.4476	10	0.17832	T	0.49	4.4535	8.1767	0.31285	0.0:0.1717:0.6511:0.1771	.	10	Q9Y4Z2	NGN3_HUMAN	S	10	ENSP00000242462:T10S	ENSP00000242462:T10S	T	-	2	0	NEUROG3	71002777	0.001000	0.12720	0.005000	0.12908	0.058000	0.15608	0.847000	0.27696	0.471000	0.27319	0.655000	0.94253	ACT			0.672	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048464.1		NM_020999		C	71332771	G	C	71332771	3	2	111	1	0	0	0	0	1	0	0	0	10371	1029	36	5	619	5	NEUROG3	10	71332771	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	1341682	71332771	64201976	46	8330											
C10orf76	79591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	103766354	103766354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttgtaggagcaggacTgacaggggtcgtcaccaagc	9	7	17	8	1	1	1	1	1	0	0	2	3	1	3	1	6	2	3	1	6	2	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr10:103766354T>C	ENST00000370033.4	-	14	1110	c.991A>G	c.(991-993)Agt>Ggt	p.S331G		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	331						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)		GGAGCAGGACTGACAGGGGTC	0.483																																					p.S331G													.	.			0			c.A991G												129	138	135					10																	103766354		1967	4161	6128	SO:0001583	missense	79591	exon14			CAGGACTGACAGG	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.991A>G	10.37:g.103766354T>C	ENSP00000359050:p.Ser331Gly		66	0	0		70	0.21	15	NM_024541	82	0.4	33	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189778	0.57909	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.92	4.78	0.61160	.	0.082122	0.85682	D	0.000000	T	0.52757	0.1754	L	0.42245	1.32	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44651	-0.9314	9	0.29301	T	0.29	-2.2685	12.1567	0.54081	0.0:0.0669:0.0:0.9331	.	331	Q5T2E6	CJ076_HUMAN	G	331	.	ENSP00000359050:S331G	S	-	1	0	C10orf76	103756344	0.999000	0.42202	1.000000	0.80357	0.932000	0.56968	3.172000	0.50832	1.059000	0.40554	0.533000	0.62120	AGT			0.483	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050007.1		NM_024541		C	103766354	T	C	103766354	3	2	111	1	0	0	0	0	1	0	0	0	1618	1580	55	4	1130	4	C10orf76	10	103766354	Missense_Mutation	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10	32433583	103766354	31768393	47	8331											
FANK1	92565	mdanderson.org	37	chr10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccgaccatggagcccCagagtaagggaggcccgggc	10	2	16	13	2	0	1	0	0	0	1	0	4	0	3	5	4	3	2	5	4	1	1	rs202109621		TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X													.	.			0			c.C10T												8	12	11					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*		17	0	0		17	0.12	2	NM_145235	31	0	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG			0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_145235		T	127585221	C	T	127585221	4	4	111	1	0	0	0	0	0	1	0	0	5685	595	21	3	12	3	FANK1	10	127585221	Nonsense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	23818867	127585221	7949526	48	8332											
ANO9	338440	mdanderson.org	37	chr11	431763	431763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcttcttcaggcgtcccTccccctggctcgggtgacag	4	10	11	16	3	3	1	1	1	2	0	6	1	5	1	3	3	0	1	3	3	0	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:431763T>C	ENST00000332826.6	-	7	554	c.470A>G	c.(469-471)gAg>gGg	p.E157G		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	157					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						CAGGCGTCCCTCCCCCTGGCT	0.647																																					p.E157G													ANO9,bladder,carcinoma,0,1	ANO9	0	1	0			c.A470G												58	58	58					11																	431763		2203	4298	6501	SO:0001583	missense	338440	exon7			CGTCCCTCCCCCT	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.470A>G	11.37:g.431763T>C	ENSP00000332788:p.Glu157Gly		67	0	0		42	0.07	3	NM_001012302	3	0	0	B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167925	0.57476	.	.	ENSG00000185101	ENST00000332826	T	0.69435	-0.4	4.25	4.25	0.50352	.	1.072170	0.07407	U	0.891802	T	0.56337	0.1978	L	0.29908	0.895	0.23889	N	0.996556	B	0.26577	0.153	B	0.19391	0.025	T	0.41016	-0.9532	10	0.28530	T	0.3	.	12.9873	0.58598	0.0:0.0:0.0:1.0	.	157	A1A5B4	ANO9_HUMAN	G	157	ENSP00000332788:E157G	ENSP00000332788:E157G	E	-	2	0	ANO9	421763	0.078000	0.21339	0.025000	0.17156	0.030000	0.12068	2.690000	0.47001	1.930000	0.55929	0.397000	0.26171	GAG			0.647	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384116.1		NM_001012302		C	431763	T	C	431763	3	2	111	1	0	0	0	0	1	0	0	0	704	1551	54	4	1946	4	ANO9	11	431763	Missense_Mutation	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10		431763	134574753	49	8333											
LRDD	55367	ucsc.edu;bcgsc.ca	37	chr11	802246	802246	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagcacatggctgagcagGgcgtcatgaggacccagggg	9	5	16	11	1	1	2	1	2	0	0	2	3	2	3	2	5	2	3	2	5	0	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:802246G>T	ENST00000347755.5	-	6	1266	c.1125C>A	c.(1123-1125)gcC>gcA	p.A375A	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Silent_p.A375A	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GGCTGAGCAGGGCGTCATGAG	0.706																																					p.A375A													.	PIDD	76		0			c.C1125A												19	23	22					11																	802246		2195	4295	6490	SO:0001819	synonymous_variant	55367	exon6			GAGCAGGGCGTCA																												ENST00000347755.5:c.1125C>A	11.37:g.802246G>T			62	0	0		43	0.09	4	NM_145887	34	0	0		Silent	SNP	ENST00000347755.5	37	CCDS7716.1																																																																																					0.706	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257103.1				T	802246	G	T	802246	2	4	111	1	0	0	0	0	0	0	0	1	8952	1219	43	3		3	LRDD	11	802246	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	370483	802246	134204270	50	8334											
MUC6	4588	bcgsc.ca	37	chr11	1017092	1017092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaaatgagcttggggattgGctggtcccactggtggtcgg	6	11	16	8	1	0	1	0	1	0	0	2	2	1	2	1	7	1	2	1	7	2	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:1017092G>C	ENST00000421673.2	-	31	5759	c.5709C>G	c.(5707-5709)agC>agG	p.S1903R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1903	Approximate repeats.|Thr-rich.				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)		TTGGGGATTGGCTGGTCCCAC	0.552																																					p.S1903R													.	MUC6	408		0			c.C5709G												631	666	654					11																	1017092		2201	4280	6481	SO:0001583	missense	4588	exon31			GGATTGGCTGGTC	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.5709C>G	11.37:g.1017092G>C	ENSP00000406861:p.Ser1903Arg		246	0.0325203252	8		133	0.09	12	NM_005961	1	0	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743763	0.30865	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	2.94	-2.72	0.05968	.	.	.	.	.	T	0.30510	0.0767	L	0.55481	1.735	0.09310	N	1	D	0.71674	0.998	D	0.79784	0.993	T	0.15723	-1.0427	9	0.46703	T	0.11	.	1.8545	0.03176	0.2124:0.1539:0.4769:0.1568	.	1903	Q6W4X9	MUC6_HUMAN	R	1903	ENSP00000406861:S1903R	ENSP00000406861:S1903R	S	-	3	2	MUC6	1007092	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.080000	0.11339	-0.740000	0.04803	0.313000	0.20887	AGC			0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		C	1017092	G	C	1017092	3	2	111	1	0	0	0	0	1	0	0	0	9996	1194	42	5	1622	5	MUC6	11	1017092	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	214846	1017092	133989424	51	8335											
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	1271284	1271284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggggacgacctggatcCtcacagagctgaccacagca	10	5	11	15	2	1	2	1	1	0	1	3	5	3	4	4	3	2	2	4	3	0	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:1271284C>T	ENST00000529681.1	+	31	13232	c.13174C>T	c.(13174-13176)Ctc>Ttc	p.L4392F	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.L4395F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4392	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)		GACCTGGATCCTCACAGAGCT	0.657																																					p.L4392F													.	.			0			c.C13174T												66	80	75					11																	1271284		2012	4169	6181	SO:0001583	missense	727897	exon31			TGGATCCTCACAG	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.13174C>T	11.37:g.1271284C>T	ENSP00000436812:p.Leu4392Phe		196	0	0		109	0.3	33	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	4.142	0.024625	0.08054	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.18016	2.24;2.42	2.12	-3.09	0.05331	.	.	.	.	.	T	0.09202	0.0227	L	0.46157	1.445	0.09310	N	1	P;P	0.40144	0.704;0.561	B;B	0.23419	0.046;0.032	T	0.15378	-1.0439	9	0.87932	D	0	.	2.8115	0.05443	0.2189:0.2668:0.0:0.5144	.	4865;4395	A7Y9J9;E9PBJ0	.;.	F	4392;4395;4336;4242;171	ENSP00000436812:L4392F;ENSP00000415793:L4395F	ENSP00000343037:L4336F	L	+	1	0	MUC5B	1227860	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.105000	0.10907	-0.651000	0.05415	0.186000	0.17326	CTC			0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093		T	1271284	C	T	1271284	3	4	111	1	0	0	0	0	1	0	0	0	9995	681	24	3	13305	3	MUC5B	11	1271284	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	254192	1271284	133735232	52	8336											
ZNF195	7748	mdanderson.org	37	chr11	3383000	3383000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtccacagaaacattgaGgcctggctgggcacggtggt	8	10	14	9	1	0	2	0	1	0	1	1	2	1	2	2	5	1	2	2	5	1	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:3383000G>T	ENST00000399602.4	-	4	472	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	ZNF195_ENST00000343338.7_Intron|ZNF195_ENST00000429541.2_Intron|ZNF195_ENST00000438262.2_Intron|ZNF195_ENST00000354599.6_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.L116I|ZNF195_ENST00000526601.1_Missense_Mutation_p.L120I|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	116	Spacer.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		gaaacattgaggcctggctgg	0.493																																					p.L120I													.	.			0			c.C358A												242	231	235					11																	3383000		692	1591	2283	SO:0001583	missense	7748	exon5			CATTGAGGCCTGG		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.346C>A	11.37:g.3383000G>T	ENSP00000382511:p.Leu116Ile		63	0	0		34	0.09	3	NM_001242841	23	0	0	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	g	1.558	-0.537352	0.04082	.	.	ENSG00000005801	ENST00000399602;ENST00000005082;ENST00000526601;ENST00000533036	T;T;T;T	0.46063	3.32;3.34;3.34;0.88	0.225	0.225	0.15325	.	.	.	.	.	T	0.40522	0.1120	L	0.41356	1.27	0.09310	N	1	P;P;P	0.37398	0.593;0.593;0.458	P;P;B	0.48114	0.567;0.567;0.364	T	0.36648	-0.9739	8	0.34782	T	0.22	.	.	.	.	.	120;116;116	O14628-6;O14628-5;O14628	.;.;ZN195_HUMAN	I	116;116;120;135	ENSP00000382511:L116I;ENSP00000005082:L116I;ENSP00000435828:L120I;ENSP00000433911:L135I	ENSP00000005082:L116I	L	-	1	0	ZNF195	3339576	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	CTC			0.493	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000032321.2				T	3383000	G	T	3383000	3	4	111	1	0	0	0	0	1	0	0	0	17781	1000	35	3	1555	3	ZNF195	11	3383000	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	2111716	3383000	131623516	53	8337											
RRP8	23378	mdanderson.org	37	chr11	6623111	6623111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacattgtccaggtgctggGctgaatttataggggcatgt	9	12	13	7	0	0	1	0	1	0	0	1	1	1	1	1	4	2	3	1	4	4	4			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:6623111G>A	ENST00000254605.6	-	2	551	c.434C>T	c.(433-435)gCc>gTc	p.A145V	ILK_ENST00000420936.2_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000537806.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000396751.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	145			A -> P (in dbSNP:rs11040934).		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						CAGGTGCTGGGCTGAATTTAT	0.463																																					p.A145V													.	.			0			c.C434T												135	120	125					11																	6623111		2201	4296	6497	SO:0001583	missense	23378	exon2			TGCTGGGCTGAAT	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.434C>T	11.37:g.6623111G>A	ENSP00000254605:p.Ala145Val		112	0	0		52	0.06	3	NM_015324	86	0	0	Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	G	7.824	0.718373	0.15372	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.45276	1.51;0.9	4.47	2.62	0.31277	.	0.715551	0.13485	N	0.384408	T	0.26448	0.0646	L	0.27053	0.805	0.09310	N	0.999994	B	0.12013	0.005	B	0.06405	0.002	T	0.15665	-1.0429	10	0.28530	T	0.3	-12.5409	6.6059	0.22726	0.2091:0.0:0.7909:0.0	.	145	O43159	RRP8_HUMAN	V	145	ENSP00000254605:A145V;ENSP00000436246:A145V	ENSP00000254605:A145V	A	-	2	0	RRP8	6579687	0.958000	0.32768	0.089000	0.20774	0.046000	0.14306	1.557000	0.36299	0.835000	0.34877	-0.136000	0.14681	GCC			0.463	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384505.1		NM_015324		A	6623111	G	A	6623111	3	1	111	1	0	0	0	0	1	0	0	0	13713	1203	42	2	960	2	RRP8	11	6623111	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	3240111	6623111	128383405	54	8338											
DCHS1	8642	mdanderson.org	37	chr11	6644407	6644407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctgtggcctgcacgtGacccaagctgtggccacgcc	6	8	11	16	2	2	1	1	1	1	0	2	1	2	1	4	2	2	2	4	2	1	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:6644407G>T	ENST00000299441.3	-	21	8911	c.8500C>A	c.(8500-8502)Cac>Aac	p.H2834N	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2834	Cadherin 27. {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)		GCCTGCACGTGACCCAAGCTG	0.567																																					p.H2834N													.	.			0			c.C8500A												33	29	30					11																	6644407		2200	4293	6493	SO:0001583	missense	8642	exon21			GCACGTGACCCAA	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.8500C>A	11.37:g.6644407G>T	ENSP00000299441:p.His2834Asn		43	0	0		52	0.08	4	NM_003737	96	0	0	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527577	0.27299	.	.	ENSG00000166341	ENST00000299441	T	0.60040	0.22	4.97	4.97	0.65823	Cadherin (2);Cadherin-like (1);	0.000000	0.40469	N	0.001088	T	0.46927	0.1418	L	0.38838	1.175	0.30208	N	0.797951	P	0.43231	0.801	B	0.37780	0.258	T	0.49051	-0.8979	10	0.22109	T	0.4	.	16.9706	0.86298	0.0:0.0:1.0:0.0	.	2834	Q96JQ0	PCD16_HUMAN	N	2834	ENSP00000299441:H2834N	ENSP00000299441:H2834N	H	-	1	0	DCHS1	6600983	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.918000	0.48829	2.587000	0.87381	0.655000	0.94253	CAC			0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257258.1		NM_003737		T	6644407	G	T	6644407	3	4	111	1	0	0	0	0	1	0	0	0	4289	1290	45	3	1400	3	DCHS1	11	6644407	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	21296	6644407	128362109	55	8339											
RCN1	5954	mdanderson.org	37	chr11	32119923	32119923	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagtttcatgattcttCagatcatcacacctttaaaa	13	13	5	10	1	5	3	4	1	1	2	5	3	5	3	1	0	0	2	1	0	2	5			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:32119923C>A	ENST00000054950.3	+	3	769	c.476C>A	c.(475-477)tCa>tAa	p.S159*	RCN1_ENST00000532942.1_Nonsense_Mutation_p.S108*|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	159					camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					CATGATTCTTCAGATCATCAC	0.463																																					p.S159X													.	.			0			c.C476A												62	58	59					11																	32119923		2202	4299	6501	SO:0001587	stop_gained	5954	exon3			ATTCTTCAGATCA	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"EF-hand domain containing"	9934	protein-coding gene	gene with protein product	"proliferation-inducing gene 20"	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.476C>A	11.37:g.32119923C>A	ENSP00000054950:p.Ser159*		91	0	0		45	0.07	3	NM_002901	116	0	0	B7Z1M1|D3DR00	Nonsense_Mutation	SNP	ENST00000054950.3	37	CCDS7876.1	.	.	.	.	.	.	.	.	.	.	c	35	5.562097	0.96527	.	.	ENSG00000049449	ENST00000532942;ENST00000054950	.	.	.	5.72	4.78	0.61160	.	0.287341	0.38326	N	0.001739	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-1.3493	13.8833	0.63693	0.0:0.9242:0.0:0.0758	.	.	.	.	X	108;159	.	ENSP00000054950:S159X	S	+	2	0	RCN1	32076499	0.667000	0.27484	0.234000	0.24042	0.440000	0.31957	2.382000	0.44345	1.370000	0.46153	0.591000	0.81541	TCA			0.463	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388510.1		NM_002901		A	32119923	C	A	32119923	4	1	111	1	0	0	0	0	0	1	0	0	13202	838	29	3	486	3	RCN1	11	32119923	Nonsense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	25475516	32119923	102886593	56	8340											
SLC15A3	51296	mdanderson.org	37	chr11	60718930	60718930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggccgcgcccgccgcccGccgccaccgtcgagggcccc	3	1	13	24	9	0	0	0	0	0	0	1	1	0	0	9	2	0	0	9	2	0	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:60718930G>A	ENST00000227880.3	-	1	327	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	32					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						cccgccgcccgccgccaccgt	0.766																																					p.R32W													.	.			0			c.C94T												1	1	1					11																	60718930		882	1792	2674	SO:0001583	missense	51296	exon1			CCGCCCGCCGCCA	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.94C>T	11.37:g.60718930G>A	ENSP00000227880:p.Arg32Trp		20	0	0		25	0.12	3	NM_016582	2	0	0	Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.437102	0.83885	.	.	ENSG00000110446	ENST00000227880;ENST00000442626	T	0.56941	0.43	3.33	2.29	0.28610	Major facilitator superfamily domain, general substrate transporter (1);	.	.	.	.	T	0.27384	0.0672	N	0.05592	-0.015	0.32065	N	0.595153	B;B	0.18310	0.027;0.009	B;B	0.10450	0.005;0.002	T	0.24941	-1.0146	9	0.29301	T	0.29	-5.9983	5.5114	0.16882	0.0:0.1821:0.4881:0.3298	.	32;32	F5H1C8;Q8IY34	.;S15A3_HUMAN	W	32	ENSP00000227880:R32W	ENSP00000227880:R32W	R	-	1	2	SLC15A3	60475506	0.370000	0.25047	0.450000	0.26969	0.864000	0.49448	1.333000	0.33816	1.593000	0.50029	0.479000	0.44913	CGG			0.766	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396366.1		NM_016582		A	60718930	G	A	60718930	3	1	111	1	0	0	0	0	1	0	0	0	14423	1086	38	1	1683	1	SLC15A3	11	60718930	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	28599007	60718930	74287586	57	8341											
SIPA1	6494	mdanderson.org	37	chr11	65408903	65408903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctttgtgtgtgagctcgggGgtgagggtgagctaggcctg	4	11	20	6	1	0	3	0	3	0	0	1	3	0	3	1	4	2	3	1	4	1	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:65408903G>T	ENST00000394224.3	+	2	807	c.511G>T	c.(511-513)Ggt>Tgt	p.G171C	SIPA1_ENST00000534313.1_Missense_Mutation_p.G171C|SIPA1_ENST00000394227.3_Missense_Mutation_p.G171C|SIPA1_ENST00000527525.1_Missense_Mutation_p.G171C	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	171					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGAGCTCGGGGGTGAGGGTGA	0.672																																					p.G171C													.	.			0			c.G511T												57	62	60					11																	65408903		2201	4297	6498	SO:0001583	missense	6494	exon2			CTCGGGGGTGAGG	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.511G>T	11.37:g.65408903G>T	ENSP00000377771:p.Gly171Cys		44	0	0		21	0.1	2	NM_006747	29	0	0	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072343	0.76415	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.88664	-2.41;-2.39;-2.41;-2.39	5.04	5.04	0.67666	.	0.214559	0.26915	U	0.021855	D	0.94062	0.8097	M	0.79011	2.435	0.46631	D	0.99913	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.936	D	0.94659	0.7846	10	0.87932	D	0	-11.2781	16.2454	0.82441	0.0:0.0:1.0:0.0	.	171;171	F6RY50;Q96FS4	.;SIPA1_HUMAN	C	171	ENSP00000436269:G171C;ENSP00000433686:G171C;ENSP00000377771:G171C;ENSP00000377774:G171C	ENSP00000377771:G171C	G	+	1	0	SIPA1	65165479	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.811000	0.62606	2.515000	0.84797	0.555000	0.69702	GGT			0.672	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390356.1		NM_006747		T	65408903	G	T	65408903	3	4	111	1	0	0	0	0	1	0	0	0	14351	1232	43	3	513	3	SIPA1	11	65408903	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	4689973	65408903	69597613	58	8342											
CPT1A	1374	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	68527806	68527806	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctccaaggctcagataaaaCctattgagtgaaacagggaa	16	8	9	8	0	2	3	1	2	1	1	3	4	2	4	2	2	2	1	2	2	6	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:68527806C>T	ENST00000265641.5	-	17	2183	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	CPT1A_ENST00000540367.1_Splice_Site_p.V677I|CPT1A_ENST00000376618.2_Splice_Site_p.V677I|CPT1A_ENST00000539743.1_Splice_Site_p.V677I|CPT1A_ENST00000537756.2_5'Flank	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	677					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)	TCAGATAAAACCTATTGAGTG	0.493																																					p.V677I													.	.			0			c.G2029A												58	51	54					11																	68527806		2200	4294	6494	SO:0001630	splice_region_variant	1374	exon17			ATAAAACCTATTG	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.2029-1G>A	11.37:g.68527806C>T			182	0	0		95	0.09	9	NM_001876	90	0.03	3	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404696	0.83230	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	4.25	4.25	0.50352	.	0.061993	0.64402	N	0.000004	D	0.93138	0.7815	M	0.70275	2.135	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.65987	0.94;0.94	D	0.92414	0.5940	10	0.36615	T	0.2	.	17.2414	0.87014	0.0:1.0:0.0:0.0	.	677;677	P50416;P50416-2	CPT1A_HUMAN;.	I	677	ENSP00000439084:V677I;ENSP00000365803:V677I;ENSP00000265641:V677I;ENSP00000446108:V677I	ENSP00000265641:V677I	V	-	1	0	CPT1A	68284382	1.000000	0.71417	0.901000	0.35422	0.855000	0.48748	7.308000	0.78929	2.369000	0.80426	0.655000	0.94253	GTT			0.493	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397457.2		NM_001876	Missense_Mutation	T	68527806	C	T	68527806	5	4	111	1	0	0	0	0	0	0	1	0	3833	521	18	3	344	3	CPT1A	11	68527806	Splice_Site	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	3118903	68527806	66478710	59	8343											
IL18BP	10068	mdanderson.org	37	chr11	71711470	71711470	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagagccacacctgtctcGcagaccaccacagctgccac	10	5	8	18	1	2	2	1	0	1	2	3	2	2	2	5	0	3	2	5	0	0	0	rs202132601	byFrequency	TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:71711470G>A	ENST00000393703.4	+	3	639	c.102G>A	c.(100-102)tcG>tcA	p.S34S	IL18BP_ENST00000337131.5_Silent_p.S34S|IL18BP_ENST00000497194.2_Silent_p.S34S|IL18BP_ENST00000531053.1_Silent_p.S34S|IL18BP_ENST00000393705.4_Silent_p.S34S|IL18BP_ENST00000404792.1_Silent_p.S34S|IL18BP_ENST00000260049.5_Silent_p.S34S|IL18BP_ENST00000393707.4_Silent_p.S34S	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CACCTGTCTCGCAGACCACCA	0.602													G|||	2	0.000399361	0	0.0029	5008	,	,		15967	0		0	False		,,,				2504	0				p.S34S													.	.			0			c.G102A							G	,,,,,,	0,4262		0,0,2131	80	93	88		102,102,102,102,102,102,102	-0.9	0	11		88	3,8487		0,3,4242	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IL18BP	NM_001039659.1,NM_001039660.1,NM_001145055.1,NM_001145057.1,NM_005699.3,NM_173042.2,NM_173044.2	,,,,,,	0,3,6373	AA,AG,GG		0.0353,0.0,0.0235	,,,,,,	34/195,34/195,34/116,34/195,34/200,34/195,34/164	71711470	3,12749	2131	4245	6376	SO:0001819	synonymous_variant	10068	exon3			TGTCTCGCAGACC	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.102G>A	11.37:g.71711470G>A			64	0	0		37	0.08	3	NM_001039660	156	0	0	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Silent	SNP	ENST00000393703.4	37	CCDS8206.2																																																																																			0.001		0.602	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000258012.2		NM_173042		A	71711470	G	A	71711470	2	1	111	1	0	0	0	0	0	0	0	1	7661	1074	38	1		1	IL18BP	11	71711470	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	3183664	71711470	63295046	60	8344											
INTS4	92105	broad.mit.edu	37	chr11	77635932	77635932	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctcgaatatctctggAtgaatccttttaaaaaaaaa	16	12	5	8	1	2	1	0	1	2	0	5	3	3	2	2	1	1	0	2	1	8	3	rs148749715		TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:77635932A>C	ENST00000534064.1	-	12	1412	c.1378T>G	c.(1378-1380)Tcc>Gcc	p.S460A	INTS4_ENST00000529807.1_Missense_Mutation_p.S460A|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	460					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ATATCTCTGGATGAATCCTTT	0.398																																					p.S460A													.	INTS4	89		0			c.T1378G							A	ALA/SER	2,4376		0,2,2187	21	22	22		1378	4.5	1	11	dbSNP_134	22	0,8568		0,0,4284	no	missense	INTS4	NM_033547.3	99	0,2,6471	CC,CA,AA		0.0,0.0457,0.0154	benign	460/964	77635932	2,12944	2189	4284	6473	SO:0001583	missense	92105	exon12			CTCTGGATGAATC	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1378T>G	11.37:g.77635932A>C	ENSP00000434466:p.Ser460Ala		285	0.0070175439	2		202	0.01	3	NM_033547	66	0	0	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119484	0.77323	4.57E-4	0.0	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.43294	0.95;1.52	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.66297	2.02	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.65709	-0.6102	10	0.66056	D	0.02	-2.9581	14.2909	0.66278	1.0:0.0:0.0:0.0	.	460	Q96HW7	INT4_HUMAN	A	460;311;460	ENSP00000434466:S460A;ENSP00000433644:S460A	ENSP00000346913:S311A	S	-	1	0	INTS4	77313580	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.579000	0.90781	2.015000	0.59207	0.397000	0.26171	TCC			0.398	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390927.1		NM_033547		C	77635932	A	C	77635932	3	2	111	1	0	0	0	0	1	0	0	0	7795	333	12	4	1561	4	INTS4	11	77635932	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10	5924462	77635932	57370584	61	8345											
TTC12	54970	mdanderson.org	37	chr11	113233143	113233143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagctgctggtgttctgagCcggaccctttcttcctctct	4	14	10	13	1	3	2	0	1	3	1	5	3	4	3	3	2	3	3	3	2	0	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:113233143C>T	ENST00000529221.1	+	19	1740	c.1635C>T	c.(1633-1635)agC>agT	p.S545S	TTC12_ENST00000314756.3_Silent_p.S545S|TTC12_ENST00000483239.2_Silent_p.S551S|TTC12_ENST00000393020.1_Silent_p.S545S	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	545										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GTGTTCTGAGCCGGACCCTTT	0.428																																					p.S545S													.	.			0			c.C1635T												94	98	97					11																	113233143		2201	4296	6497	SO:0001819	synonymous_variant	54970	exon19			TCTGAGCCGGACC	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1635C>T	11.37:g.113233143C>T			49	0	0		41	0.07	3	NM_017868	28	0	0	Q8N5H9|Q9NWY3	Silent	SNP	ENST00000529221.1	37	CCDS8360.2																																																																																					0.428	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286455.2		NM_017868		T	113233143	C	T	113233143	2	4	111	1	0	0	0	0	0	0	0	1	16703	738	26	2		2	TTC12	11	113233143	Silent	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	35597211	113233143	21773373	62	8346											
C2CD2L	9854	broad.mit.edu	37	chr11	118984835	118984835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgctatccctgggctatgcgGcatccctggaagcctcagtg	6	9	12	14	2	1	0	1	0	0	0	3	1	3	1	3	3	2	3	3	3	3	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:118984835G>A	ENST00000528586.1	+	9	983	c.913G>A	c.(913-915)Gca>Aca	p.A305T	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A558T			O14523	C2C2L_HUMAN	C2CD2-like	557						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGGCTATGCGGCATCCCTGGA	0.617																																					p.A558T													.	C2CD2L	39		0			c.G1672A												111	111	111					11																	118984835		2200	4295	6495	SO:0001583	missense	9854	exon13			TATGCGGCATCCC	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.913G>A	11.37:g.118984835G>A	ENSP00000433600:p.Ala305Thr		60	0	0		45	0.07	3	NM_014807	18	0	0	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.232485	0.95207	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.44083	0.93;0.93	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.49350	1.555	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61554	-0.7039	10	0.72032	D	0.01	2.3648	18.0563	0.89365	0.0:0.0:1.0:0.0	.	557;558	O14523;O14523-2	C2C2L_HUMAN;.	T	558;305	ENSP00000338885:A558T;ENSP00000433600:A305T	ENSP00000338885:A558T	A	+	1	0	C2CD2L	118490045	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.735000	0.91549	2.798000	0.96311	0.655000	0.94253	GCA			0.617	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000388199.2		NM_014807		A	118984835	G	A	118984835	3	1	111	1	0	0	0	0	1	0	0	0	2155	1203	42	2	1722	2	C2CD2L	11	118984835	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	5751692	118984835	16021681	63	8347											
PRDM10	56980	mdanderson.org	37	chr11	129785738	129785738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtgggctttgcgcttGctggcacttttataaacctg	8	14	11	8	1	0	1	0	0	0	1	0	1	0	1	1	2	3	4	1	2	4	5			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr11:129785738G>T	ENST00000360871.3	-	16	2574	c.2343C>A	c.(2341-2343)agC>agA	p.S781R	PRDM10_ENST00000528746.1_Missense_Mutation_p.S755R|PRDM10_ENST00000423662.2_Missense_Mutation_p.S699R|PRDM10_ENST00000358825.5_Missense_Mutation_p.S785R|PRDM10_ENST00000526082.1_Missense_Mutation_p.S699R|PRDM10_ENST00000304538.6_Missense_Mutation_p.S695R	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	785					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)		CTTTGCGCTTGCTGGCACTTT	0.493																																					p.S785R													.	.			0			c.C2355A												91	90	90					11																	129785738		2201	4297	6498	SO:0001583	missense	56980	exon17			GCGCTTGCTGGCA	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.2343C>A	11.37:g.129785738G>T	ENSP00000354118:p.Ser781Arg		71	0	0		39	0.08	3	NM_020228	17	0	0	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682978	0.68157	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;2.8;1.47;2.8;1.47	5.97	2.11	0.27256	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.038650	0.85682	D	0.000000	T	0.39545	0.1082	L	0.29908	0.895	0.54753	D	0.99998	D;D;D;D;D;D	0.76494	0.97;0.963;0.97;0.963;0.999;0.963	P;P;P;P;D;P	0.79108	0.8;0.698;0.8;0.698;0.992;0.698	T	0.12993	-1.0526	10	0.87932	D	0	-26.5601	10.4623	0.44587	0.2569:0.0:0.7431:0.0	.	695;781;785;699;695;699	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	R	785;695;781;699;755;699;498	ENSP00000351686:S785R;ENSP00000302669:S695R;ENSP00000354118:S781R;ENSP00000398431:S699R;ENSP00000431262:S755R;ENSP00000432237:S699R;ENSP00000435940:S498R	ENSP00000302669:S695R	S	-	3	2	PRDM10	129290948	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.937000	0.40193	0.150000	0.19136	0.655000	0.94253	AGC			0.493	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386076.1		NM_199437		T	129785738	G	T	129785738	3	4	111	1	0	0	0	0	1	0	0	0	12471	1310	46	2	1151	2	PRDM10	11	129785738	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	10800903	129785738	5220778	64	8348											
WNK1	65125	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	968427	968427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatattccatcaaagacCttttgaaccatgccttcttc	12	13	5	11	0	2	3	1	1	1	2	4	4	3	3	4	0	2	0	4	0	4	6			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr12:968427C>T	ENST00000315939.6	+	6	2060	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F	WNK1_ENST00000535572.1_Missense_Mutation_p.L473F|WNK1_ENST00000530271.2_Missense_Mutation_p.L473F|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Missense_Mutation_p.L66F|WNK1_ENST00000537687.1_Missense_Mutation_p.L473F	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	473	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CATCAAAGACCTTTTGAACCA	0.338																																					p.L473F	Colon(19;451 567 6672 12618 28860)												.	.			0			c.C1417T												62	66	64					12																	968427		2203	4299	6502	SO:0001583	missense	65125	exon6			AAAGACCTTTTGA	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.1417C>T	12.37:g.968427C>T	ENSP00000313059:p.Leu473Phe		217	0	0		556	0.08	44	NM_001184985	282	0.06	18	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874622	0.91664	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;1.53	5.94	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000017	D	0.82710	0.5096	M	0.84326	2.69	0.47621	D	0.999471	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84857	0.0817	10	0.87932	D	0	-16.6442	15.5425	0.76066	0.0:0.9329:0.0:0.0671	.	473;473	F5GWT4;Q9H4A3	.;WNK1_HUMAN	F	473;473;473;473;66	ENSP00000441972:L473F;ENSP00000313059:L473F;ENSP00000444465:L473F;ENSP00000433548:L473F;ENSP00000341292:L66F	ENSP00000313059:L473F	L	+	1	0	WNK1	838688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.807000	0.96579	0.591000	0.81541	CTT			0.338	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206683.1		NM_018979		T	968427	C	T	968427	3	4	111	1	0	0	0	0	1	0	0	0	17401	681	24	3	1439	3	WNK1	12	968427	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10		968427	132883468	65	8349											
WBP11	51729	broad.mit.edu	37	chr12	14941901	14941901	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggaggtgcagggggAggtagccttggtgggggtcc	5	8	20	8	0	1	0	1	0	0	0	2	2	2	2	3	8	2	2	3	8	1	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr12:14941901A>G	ENST00000261167.2	-	11	1709	c.1476T>C	c.(1474-1476)ccT>ccC	p.P492P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	492	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GTGCAGGGGGAGGTAGCCTTG	0.542																																					p.P492P													.	WBP11	66		0			c.T1476C												12	15	14					12																	14941901		2201	4295	6496	SO:0001819	synonymous_variant	51729	exon11			AGGGGGAGGTAGC	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1476T>C	12.37:g.14941901A>G			113	0.017699115	2		279	0.02	6	NM_016312	1037	0.01	9	Q96AY8	Silent	SNP	ENST00000261167.2	37	CCDS8666.1																																																																																					0.542	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400850.1		NM_016312		G	14941901	A	G	14941901	2	3	111	1	0	0	0	0	0	0	0	1	17282	291	11	4		4	WBP11	12	14941901	Silent	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10	13973474	14941901	118909994	66	8350			1	16		2	2	34	A		9.700167e-05
WBP11	51729	broad.mit.edu	37	chr12	14941934	14941934	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtccacgaggagggggAccaggaggcagacctggagg	9	2	22	8	1	0	1	0	0	0	1	1	6	1	5	3	9	0	1	3	9	0	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr12:14941934A>G	ENST00000261167.2	-	11	1676	c.1443T>C	c.(1441-1443)ggT>ggC	p.G481G		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	481	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GAGGAGGGGGACCAGGAGGCA	0.582																																					p.G481G													.	WBP11	66		0			c.T1443C												18	21	20					12																	14941934		2203	4300	6503	SO:0001819	synonymous_variant	51729	exon11			AGGGGGACCAGGA	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1443T>C	12.37:g.14941934A>G			93	0	0		246	0.02	4	NM_016312	1043	0.01	10	Q96AY8	Silent	SNP	ENST00000261167.2	37	CCDS8666.1																																																																																					0.582	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400850.1		NM_016312		G	14941934	A	G	14941934	2	3	111	1	0	0	0	0	0	0	0	1	17282	262	10	4		4	WBP11	12	14941934	Silent	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10	33	14941934	118909961	67	8351			1	16		2	2	34	A		9.700167e-05
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12R	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,NS,adenocarcinoma,+1,25136	KRAS_ENST00000256078	1	25136	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	c.G34C	GRCh37	CM076251	KRAS	M	rs121913530							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	exon2	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	CGCCACCAGCTCC	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.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg		179	0	0		660	0.05	34	NM_004985	214	0.12	26	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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		G	25398285	C	G	25398285	3	3	111	1	0	0	0	0	1	0	0	0	8453	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	10456351	25398285	108453610	68	8352											
ATF7	11016	mdanderson.org	37	chr12	53927032	53927032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatgacaagagggagggagCcagtgggagacctagaggag	13	3	19	6	0	0	4	0	1	0	3	0	8	0	7	2	4	1	1	2	4	2	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr12:53927032C>T	ENST00000548446.2	-	7	717	c.605G>A	c.(604-606)gGc>gAc	p.G202D	ATF7_ENST00000456903.4_Missense_Mutation_p.G191D|ATF7_ENST00000420353.2_Missense_Mutation_p.G191D|ATF7_ENST00000328463.7_Missense_Mutation_p.G202D|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.G191D|ATF7_ENST00000415113.1_Missense_Mutation_p.G170D			P17544	ATF7_HUMAN	activating transcription factor 7	202	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	AGGGAGGGAGCCAGTGGGAGA	0.473																																					p.G191D													.	.			0			c.G572A												66	66	66					12																	53927032		1984	4160	6144	SO:0001583	missense	11016	exon7			AGGGAGCCAGTGG	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.605G>A	12.37:g.53927032C>T	ENSP00000449938:p.Gly202Asp		83	0	0		105	0.05	5	NM_006856	30	0	0	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37		.	.	.	.	.	.	.	.	.	.	C	17.53	3.412047	0.62511	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.54675	0.56;0.56;0.62;0.6;0.6	4.87	3.97	0.46021	.	0.251760	0.47093	D	0.000256	T	0.53126	0.1777	M	0.62723	1.935	0.38038	D	0.93538	P;B;P	0.44429	0.835;0.18;0.628	B;B;B	0.42282	0.347;0.025;0.382	T	0.64914	-0.6295	10	0.66056	D	0.02	-14.4401	14.5721	0.68218	0.0:0.8525:0.1475:0.0	.	170;191;202	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	D	202;202;170;191;191	ENSP00000449938:G202D;ENSP00000329212:G202D;ENSP00000404880:G170D;ENSP00000399465:G191D;ENSP00000387406:G191D	ENSP00000329212:G202D	G	-	2	0	ATF7	52213299	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.787000	0.75099	1.407000	0.46875	-0.304000	0.09214	GGC			0.473	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000406302.2		NM_001130059		T	53927032	C	T	53927032	3	4	111	1	0	0	0	0	1	0	0	0	1086	739	26	2	903	2	ATF7	12	53927032	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	28528747	53927032	79924863	69	8353											
MTIF3	219402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	28014201	28014201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaatcctgtcatgagctGatactctgcaggttctgtgc	7	13	10	11	0	3	2	1	2	2	0	4	2	4	2	1	1	5	4	1	1	2	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr13:28014201G>T	ENST00000381116.1	-	5	619	c.385C>A	c.(385-387)Cag>Aag	p.Q129K	MTIF3_ENST00000381120.3_Missense_Mutation_p.Q129K|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000431572.2_Missense_Mutation_p.Q129K|MTIF3_ENST00000405591.2_Missense_Mutation_p.Q129K			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	129					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		GTCATGAGCTGATACTCTGCA	0.512																																					p.Q129K													.	.			0			c.C385A												115	96	102					13																	28014201		2203	4300	6503	SO:0001583	missense	219402	exon4			TGAGCTGATACTC	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.385C>A	13.37:g.28014201G>T	ENSP00000370508:p.Gln129Lys		120	0	0		110	0.42	46	NM_001166263	131	0.4	53	Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529294	0.44969	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.82	5.82	0.92795	Translation initiation factor 3, N-terminal (3);	0.251014	0.40302	N	0.001122	T	0.24275	0.0588	L	0.55990	1.75	0.33145	D	0.54492	P	0.47034	0.889	B	0.43658	0.426	T	0.11372	-1.0590	10	0.02654	T	1	-30.2051	13.0521	0.58960	0.0:0.0:0.734:0.266	.	129	Q9H2K0	IF3M_HUMAN	K	129	ENSP00000400084:Q129K;ENSP00000384659:Q129K;ENSP00000370508:Q129K;ENSP00000370512:Q129K	ENSP00000370508:Q129K	Q	-	1	0	MTIF3	26912201	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	2.972000	0.49256	2.751000	0.94390	0.655000	0.94253	CAG			0.512	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044300.1		NM_152912		T	28014201	G	T	28014201	3	4	111	1	0	0	0	0	1	0	0	0	9951	1299	45	3	463	3	MTIF3	13	28014201	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		28014201	87155677	70	8354											
FRY	10129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	32721459	32721459	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagttgcactggaatctcTctacagattactttgggttt	8	16	9	8	1	2	1	0	0	2	1	4	3	2	2	0	2	3	3	0	2	3	5			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr13:32721459T>G	ENST00000380250.3	+	12	1716	c.1220T>G	c.(1219-1221)cTc>cGc	p.L407R		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	407						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)		CTGGAATCTCTCTACAGATTA	0.393																																					p.L407R													.	.			0			c.T1220G												104	97	99					13																	32721459		1861	4112	5973	SO:0001583	missense	10129	exon12			AATCTCTCTACAG	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.1220T>G	13.37:g.32721459T>G	ENSP00000369600:p.Leu407Arg		115	0	0		84	0.36	30	NM_023037	1	0	0	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600279	0.87055	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.32272	1.46	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.69503	-0.5128	10	0.87932	D	0	.	15.6385	0.76977	0.0:0.0:0.0:1.0	.	407	Q5TBA9	FRY_HUMAN	R	407;335	ENSP00000369600:L407R	ENSP00000267067:L335R	L	+	2	0	FRY	31619459	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.163000	0.67991	0.459000	0.35465	CTC			0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044405.1		NM_023037		G	32721459	T	G	32721459	3	3	111	1	0	0	0	0	1	0	0	0	6076	1551	54	4	1266	4	FRY	13	32721459	Missense_Mutation	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10	4707258	32721459	82448419	71	8355											
PPP1R13B	23368	mdanderson.org	37	chr14	104206527	104206527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggggctgggctggtaGaaaggggtgccctccatgcc	6	7	19	9	0	0	1	0	0	0	1	1	2	1	2	3	7	2	3	3	7	2	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr14:104206527G>T	ENST00000202556.9	-	12	2508	c.2226C>A	c.(2224-2226)ttC>ttA	p.F742L	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.F161L|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	742	Pro-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)				TGGGCTGGTAGAAAGGGGTGC	0.637																																					p.F742L													.	.			0			c.C2226A												59	70	66					14																	104206527		1980	4142	6122	SO:0001583	missense	23368	exon12			CTGGTAGAAAGGG	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.2226C>A	14.37:g.104206527G>T	ENSP00000202556:p.Phe742Leu		40	0	0		41	0.07	3	NM_015316	29	0	0	B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.20|16.20	3.055605|3.055605	0.55325|0.55325	.|.	.|.	ENSG00000088808|ENSG00000088808	ENST00000202556;ENST00000423488|ENST00000380023	T;T|.	0.54479|.	0.77;0.57|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56187|0.56187	0.1968|0.1968	L|L	0.50333|0.50333	1.59|1.59	0.52501|0.52501	D|D	0.999951|0.999951	D|.	0.58620|.	0.983|.	P|.	0.52758|.	0.708|.	T|T	0.53380|0.53380	-0.8447|-0.8447	10|6	0.26408|0.27082	T|T	0.33|0.32	.|.	7.0456|7.0456	0.25044|0.25044	0.2101:0.0:0.7899:0.0|0.2101:0.0:0.7899:0.0	.|.	742|.	Q96KQ4|.	ASPP1_HUMAN|.	L|I	742;161|587	ENSP00000202556:F742L;ENSP00000395213:F161L|.	ENSP00000202556:F742L|ENSP00000369362:L587I	F|L	-|-	3|1	2|2	PPP1R13B|PPP1R13B	103276280|103276280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.752000|1.752000	0.38349|0.38349	2.520000|2.520000	0.84964|0.84964	0.549000|0.549000	0.68633|0.68633	TTC|CTA			0.637	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414591.1		NM_015316		T	104206527	G	T	104206527	3	4	111	1	0	0	0	0	1	0	0	0	12377	933	33	3	1070	3	PPP1R13B	14	104206527	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		104206527	3143013	72	8356											
AHNAK2	113146	mdanderson.org	37	chr14	105406054	105406054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagctgtagggacataGctgcctccacgtttgaccca	8	9	12	12	1	0	1	0	1	0	0	1	3	1	3	3	2	3	4	3	2	2	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr14:105406054G>T	ENST00000333244.5	-	7	15853	c.15734C>A	c.(15733-15735)gCt>gAt	p.A5245D	AHNAK2_ENST00000557457.1_Missense_Mutation_p.A243D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5245						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)			TAGGGACATAGCTGCCTCCAC	0.517																																					p.A5245D													.	.			0			c.C15734A												215	235	229					14																	105406054		2089	4222	6311	SO:0001583	missense	113146	exon7			GACATAGCTGCCT	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.15734C>A	14.37:g.105406054G>T	ENSP00000353114:p.Ala5245Asp		85	0	0		39	0.08	3	NM_138420	2	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	0.422	-0.907704	0.02434	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02890	4.12;5.86	4.89	-5.97	0.02227	.	4.850960	0.01116	U	0.005693	T	0.02083	0.0065	N	0.14661	0.345	0.09310	N	1	B	0.27416	0.178	B	0.25140	0.058	T	0.41070	-0.9529	10	0.12766	T	0.61	.	12.2464	0.54572	0.0:0.1069:0.5621:0.331	.	5245	Q8IVF2	AHNK2_HUMAN	D	243;5245	ENSP00000450998:A243D;ENSP00000353114:A5245D	ENSP00000353114:A5245D	A	-	2	0	AHNAK2	104477099	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.463000	0.06696	-1.020000	0.03354	-2.061000	0.00397	GCT			0.517	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420		T	105406054	G	T	105406054	3	4	111	1	0	0	0	0	1	0	0	0	415	971	34	2	1657	2	AHNAK2	14	105406054	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	1199527	105406054	1943486	73	8357											
HERC1	8925	ucsc.edu	37	chr15	64039940	64039940	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccttgatgaagggaaaggGagtgggggaatctcactgtt	11	10	15	5	0	1	2	1	2	1	0	2	5	1	5	1	4	1	1	1	4	4	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr15:64039940G>T	ENST00000443617.2	-	11	2424	c.2337C>A	c.(2335-2337)ctC>ctA	p.L779L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	779					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						AAGGGAAAGGGAGTGGGGGAA	0.403																																					p.L779L													.	HERC1	624		0			c.C2337A												80	90	87					15																	64039940		1517	3078	4595	SO:0001819	synonymous_variant	8925	exon11			GAAAGGGAGTGGG	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.2337C>A	15.37:g.64039940G>T			53	0	0		44	0.09	4	NM_003922	10	0	0	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																					0.403	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418523.1		NM_003922		T	64039940	G	T	64039940	2	4	111	1	0	0	0	0	0	0	0	1	7072	1161	41	3		3	HERC1	15	64039940	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		64039940	38491452	74	8358											
PLEKHO2	80301	mdanderson.org	37	chr15	65153711	65153711	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgccctggagcatgtGacacgggaccgggtgcgagg	7	5	18	11	4	0	1	0	1	0	0	0	4	0	3	2	4	4	2	2	4	0	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr15:65153711G>T	ENST00000323544.4	+	5	548	c.420G>T	c.(418-420)gtG>gtT	p.V140V	AC069368.3_ENST00000437723.1_Silent_p.V140V	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	140										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGGAGCATGTGACACGGGACC	0.642																																					p.V140V													.	.			0			c.G420T												29	26	27					15																	65153711		2200	4299	6499	SO:0001819	synonymous_variant	80301	exon5			GCATGTGACACGG	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.420G>T	15.37:g.65153711G>T			52	0	0		45	0.07	3	NM_025201	60	0	0	Q7L4H4|Q8WYS8	Silent	SNP	ENST00000323544.4	37	CCDS10196.1																																																																																					0.642	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256659.1		NM_025201		T	65153711	G	T	65153711	2	4	111	1	0	0	0	0	0	0	0	1	12102	1277	45	3		3	PLEKHO2	15	65153711	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	1113771	65153711	37377681	75	8359											
CELF6	60677	mdanderson.org	37	chr15	72608195	72608195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggacttacccctggcagGgtcttctgctcgtgcagtgc	5	10	14	12	1	2	0	0	0	2	0	3	2	2	2	2	4	4	3	2	4	1	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr15:72608195G>A	ENST00000569547.1	-	2	407	c.336C>T	c.(334-336)acC>acT	p.T112T	RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000287202.5_Silent_p.T112T|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Silent_p.T112T			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	112	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CCCCTGGCAGGGTCTTCTGCT	0.642																																					p.T112T													.	.			0			c.C336T												40	37	38					15																	72608195		2199	4297	6496	SO:0001819	synonymous_variant	60677	exon2			TGGCAGGGTCTTC	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.336C>T	15.37:g.72608195G>A			42	0	0		30	0.1	3	NM_001172684	16	0	0	B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	ENST00000569547.1	37	CCDS10242.1																																																																																					0.642	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding		OTTHUMT00000420180.1		NM_052840		A	72608195	G	A	72608195	2	1	111	1	0	0	0	0	0	0	0	1	3222	1219	43	3		3	CELF6	15	72608195	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	7454484	72608195	29923197	76	8360											
HAPLN3	145864	mdanderson.org	37	chr15	89421275	89421275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaaagcttcggaccccagGctctgggggcccacagttag	8	6	13	14	1	1	0	0	0	1	0	2	1	1	1	4	4	1	3	4	4	2	2			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr15:89421275G>T	ENST00000359595.3	-	5	1223	c.1009C>A	c.(1009-1011)Cct>Act	p.P337T	HAPLN3_ENST00000562889.1_Missense_Mutation_p.P399T	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	337	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, 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)	CGGACCCCAGGCTCTGGGGGC	0.652																																					p.P337T													.	.			0			c.C1009A												57	64	62					15																	89421275		2200	4299	6499	SO:0001583	missense	145864	exon5			CCCCAGGCTCTGG	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.1009C>A	15.37:g.89421275G>T	ENSP00000352606:p.Pro337Thr		48	0	0		43	0.07	3	NM_178232	33	0	0	A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655601	0.47467	.	.	ENSG00000140511	ENST00000359595	T	0.32272	1.46	4.69	1.71	0.24356	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.170447	0.52532	D	0.000065	T	0.49983	0.1589	M	0.78285	2.405	0.52501	D	0.999958	D;D	0.67145	0.996;0.996	D;D	0.70227	0.968;0.968	T	0.42103	-0.9471	10	0.48119	T	0.1	-0.9656	8.9032	0.35507	0.0808:0.3016:0.6176:0.0	.	337;337	A8K7T8;Q96S86	.;HPLN3_HUMAN	T	337	ENSP00000352606:P337T	ENSP00000352606:P337T	P	-	1	0	HAPLN3	87222279	1.000000	0.71417	0.891000	0.34965	0.226000	0.24999	6.180000	0.71981	0.141000	0.18875	-0.172000	0.13284	CCT			0.652	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000309070.1		NM_178232		T	89421275	G	T	89421275	3	4	111	1	0	0	0	0	1	0	0	0	6971	1203	42	2	77	2	HAPLN3	15	89421275	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	16813080	89421275	13110117	77	8361											
ROGDI	79641	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	4848606	4848606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgatctcggggagggtgagGgtggcgggggtggtgagccg	4	6	25	6	4	1	2	0	2	1	0	2	4	1	3	1	8	1	0	1	8	0	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr16:4848606G>A	ENST00000322048.7	-	7	873	c.495C>T	c.(493-495)acC>acT	p.T165T	ROGDI_ENST00000586336.1_5'UTR|RP11-127I20.5_ENST00000592465.1_RNA	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	165					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						GGAGGGTGAGGGTGGCGGGGG	0.701																																					p.T165T													.	ROGDI	11		0			c.C495T												21	23	23					16																	4848606		2184	4290	6474	SO:0001819	synonymous_variant	79641	exon7			GGTGAGGGTGGCG	AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.495C>T	16.37:g.4848606G>A			23	0	0		20	0.35	7	NM_024589	119	0.26	31	Q6IA00	Silent	SNP	ENST00000322048.7	37	CCDS10523.1																																																																																					0.701	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251643.3		NM_024589		A	4848606	G	A	4848606	2	1	111	1	0	0	0	0	0	0	0	1	13543	1219	43	3		3	ROGDI	16	4848606	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		4848606	85506147	78	8362											
DNAH3	55567	broad.mit.edu	37	chr16	20976354	20976354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgttttcctccaagtccTttttcttggtgttcatctct	5	20	5	11	0	3	0	1	0	2	0	7	0	6	0	3	1	0	2	3	1	2	6			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr16:20976354T>C	ENST00000261383.3	-	53	8851	c.8852A>G	c.(8851-8853)aAg>aGg	p.K2951R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2951	Stalk. {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)		CTCCAAGTCCTTTTTCTTGGT	0.498																																					p.K2951R													DNAH3_ENST00000261383,bladder,carcinoma,0,4	DNAH3	1142	4	0			c.A8852G												174	167	169					16																	20976354		2201	4300	6501	SO:0001583	missense	55567	exon53			AAGTCCTTTTTCT	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.8852A>G	16.37:g.20976354T>C	ENSP00000261383:p.Lys2951Arg		136	0	0		82	0.04	3	NM_017539	5	0	0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	0.058	-1.231781	0.01505	.	.	ENSG00000158486	ENST00000261383	T	0.74106	-0.81	5.93	-1.81	0.07882	Dynein heavy chain, coiled coil stalk (1);	0.710478	0.14064	N	0.343836	T	0.53932	0.1827	L	0.36672	1.1	0.36903	D	0.890499	B	0.09022	0.002	B	0.14023	0.01	T	0.32534	-0.9903	10	0.22109	T	0.4	.	1.5651	0.02602	0.4366:0.2698:0.1122:0.1814	.	2951	Q8TD57	DYH3_HUMAN	R	2951	ENSP00000261383:K2951R	ENSP00000261383:K2951R	K	-	2	0	DNAH3	20883855	0.102000	0.21896	0.062000	0.19696	0.003000	0.03518	0.427000	0.21379	-0.360000	0.08138	-0.327000	0.08410	AAG			0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207361.1		NM_017539		C	20976354	T	C	20976354	3	2	111	1	0	0	0	0	1	0	0	0	4608	1609	56	4	3537	4	DNAH3	16	20976354	Missense_Mutation	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10	16127748	20976354	69378399	79	8363											
USP10	9100	hgsc.bcm.edu	37	chr16	84797756	84797756	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcaggaagaacaaggTgaaggaagcgaggatgaatg	18	3	17	3	1	0	4	0	2	0	2	0	9	0	7	0	4	3	1	0	4	7	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr16:84797756T>C	ENST00000219473.7	+	10	1832	c.1719T>C	c.(1717-1719)ggT>ggC	p.G573G	USP10_ENST00000570191.1_Silent_p.G577G	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	573	USP.				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						AAGAACAAGGTGAAGGAAGCG	0.493																																					p.G577G													.	.			0			c.T1731C												62	63	63					16																	84797756		1887	4098	5985	SO:0001819	synonymous_variant	9100	exon11			ACAAGGTGAAGGA	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.1719T>C	16.37:g.84797756T>C			125	0	0		100	0.05	5	NM_001272075	277	0	0	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1																																																																																					0.493	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433660.1				C	84797756	T	C	84797756	2	2	111	1	0	0	0	0	0	0	0	1	17065	1683	59	4		4	USP10	16	84797756	Silent	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10	63821402	84797756	5556997	80	8364											
MAPT	4137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	44060770	44060770	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagacctgcaccaggagggGccgccgctgaagggggcagg	8	2	20	11	2	0	2	0	1	0	1	0	4	0	3	4	7	1	3	4	7	1	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr17:44060770G>A	ENST00000571987.1	+	5	600	c.600G>A	c.(598-600)ggG>ggA	p.G200G	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Silent_p.G200G|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Silent_p.G200G|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Silent_p.G200G|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	200					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	ACCAGGAGGGGCCGCCGCTGA	0.677																																					p.G200G													.	.			0			c.G600A												18	16	17					17																	44060770		2191	4274	6465	SO:0001819	synonymous_variant	4137	exon6			GGAGGGGCCGCCG	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.600G>A	17.37:g.44060770G>A			72	0	0		65	0.32	21	NM_001123066	0		0	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	CCDS11501.1																																																																																					0.677	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000440133.1		NM_016835		A	44060770	G	A	44060770	2	1	111	1	0	0	0	0	0	0	0	1	9313	1190	42	2		2	MAPT	17	44060770	Silent	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		44060770	37134440	81	8365											
PTBP1	5725	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	806515	806515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatcccgggcctggcggggGcaggaaattctgtattgctg	6	9	15	11	2	1	0	0	0	1	0	2	1	2	1	3	5	1	3	3	5	2	3			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr19:806515G>A	ENST00000349038.4	+	9	1073	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A353T|PTBP1_ENST00000356948.6_Missense_Mutation_p.A360T	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	334					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		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)		CCTGGCGGGGGCAGGAAATTC	0.697																																					p.A360T													.	.			0			c.G1078A												48	38	41					19																	806515		2196	4300	6496	SO:0001583	missense	5725	exon10			GCGGGGGCAGGAA	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1000G>A	19.37:g.806515G>A	ENSP00000014112:p.Ala334Thr		168	0	0		180	0.16	29	NM_002819	776	0.24	189	Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	6.907	0.536841	0.13188	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.47869	0.85;0.83;1.19	4.33	2.14	0.27477	.	0.285577	0.31697	N	0.007206	T	0.25269	0.0614	N	0.16903	0.455	0.48236	D	0.99961	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.002;0.003	T	0.04537	-1.0944	10	0.20046	T	0.44	-7.4611	5.8632	0.18760	0.1733:0.298:0.5287:0.0	.	334;353;360	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	T	360;353;334	ENSP00000349428:A360T;ENSP00000408096:A353T;ENSP00000014112:A334T	ENSP00000014112:A334T	A	+	1	0	PTBP1	757515	1.000000	0.71417	0.011000	0.14972	0.037000	0.13140	1.225000	0.32551	0.287000	0.22375	-0.251000	0.11542	GCA			0.697	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457605.1				A	806515	G	A	806515	3	1	111	1	0	0	0	0	1	0	0	0	12745	1203	42	2	1116	2	PTBP1	19	806515	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		806515	58322468	82	8366											
FBN3	84467	broad.mit.edu	37	chr19	8159377	8159377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagggggacagatgcagCggaaggagccctcgaggttc	10	4	17	10	2	0	1	0	0	0	1	2	5	0	4	2	5	4	2	2	5	1	1	rs137977437		TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr19:8159377C>T	ENST00000600128.1	-	47	6272	c.5858G>A	c.(5857-5859)cGc>cAc	p.R1953H	FBN3_ENST00000601739.1_Missense_Mutation_p.R1953H|FBN3_ENST00000270509.2_Missense_Mutation_p.R1953H			Q75N90	FBN3_HUMAN	fibrillin 3	1953	EGF-like 31; 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						ACAGATGCAGCGGAAGGAGCC	0.592																																					p.R1953H													.	FBN3	300		0			c.G5858A							C	HIS/ARG	0,4406		0,0,2203	86	62	70		5858	3.8	1	19	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN3	NM_032447.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1953/2810	8159377	1,13005	2203	4300	6503	SO:0001583	missense	84467	exon46			ATGCAGCGGAAGG		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.5858G>A	19.37:g.8159377C>T	ENSP00000470498:p.Arg1953His		74	0.027027027	2		67	0.24	16	NM_032447	120	0.25	30	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.605051|4.605051	0.87157|0.87157	0.0|0.0	1.16E-4|1.16E-4	ENSG00000142449|ENSG00000142449	ENST00000341066|ENST00000270509	.|D	.|0.92446	.|-3.04	4.82|4.82	3.79|3.79	0.43588|0.43588	.|EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.92047|0.92047	0.7480|0.7480	L|L	0.35288|0.35288	1.05|1.05	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	D|D	0.88428|0.88428	0.3033|0.3033	6|10	0.16896|0.16420	T|T	0.51|0.52	.|.	12.2312|12.2312	0.54488|0.54488	0.0:0.9164:0.0:0.0836|0.0:0.9164:0.0:0.0836	.|.	.|1953	.|Q75N90	.|FBN3_HUMAN	T|H	73|1953	.|ENSP00000270509:R1953H	ENSP00000341317:A73T|ENSP00000270509:R1953H	A|R	-|-	1|2	0|0	FBN3|FBN3	8065377|8065377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	2.813000|2.813000	0.48002|0.48002	1.005000|1.005000	0.39183|0.39183	0.563000|0.563000	0.77884|0.77884	GCT|CGC			0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461428.2		NM_032447		T	8159377	C	T	8159377	3	4	111	1	0	0	0	0	1	0	0	0	5717	768	27	1	2643	1	FBN3	19	8159377	Missense_Mutation	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	7352862	8159377	50969606	83	8367											
GATAD2A	54815	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19611944	19611944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcaggatgtcggccGccactgtgctgtcccgggag	6	6	16	13	3	0	0	0	0	0	0	2	2	1	2	3	4	2	3	3	4	0	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr19:19611944G>A	ENST00000360315.3	+	9	1531	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	GATAD2A_ENST00000358713.3_Missense_Mutation_p.A407T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A407T|GATAD2A_ENST00000537887.1_Missense_Mutation_p.A36T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A235T|GATAD2A_ENST00000404158.1_Missense_Mutation_p.A408T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	407	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GATGTCGGCCGCCACTGTGCT	0.652																																					p.A407T													.	GATAD2A	81		0			c.G1219A												41	39	40					19																	19611944		2202	4300	6502	SO:0001583	missense	54815	exon9			TCGGCCGCCACTG	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1219G>A	19.37:g.19611944G>A	ENSP00000353463:p.Ala407Thr		101	0.0099009901	1		95	0.19	18	NM_017660	570	0.25	144	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	CCDS12402.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.98|11.98	1.800095|1.800095	0.31869|0.31869	.|.	.|.	ENSG00000167491|ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563|ENST00000418032	T;T;T;T|.	0.47869|.	1.4;1.41;1.4;0.83|.	5.76|5.76	2.48|2.48	0.30137|0.30137	.|.	0.365309|.	0.33327|.	N|.	0.005024|.	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.05078|0.05078	-0.115|-0.115	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B|.	0.22346|.	0.009;0.068;0.068|.	B;B;B|.	0.14578|.	0.001;0.011;0.011|.	T|T	0.22941|0.22941	-1.0202|-1.0202	10|5	0.30854|.	T|.	0.27|.	-23.0477|-23.0477	2.2101|2.2101	0.03945|0.03945	0.1654:0.1555:0.5181:0.1611|0.1654:0.1555:0.5181:0.1611	.|.	235;427;407|.	B4DKZ7;B5MC40;Q86YP4|.	.;.;P66A_HUMAN|.	T|H	407;407;36;427;407;235|33	ENSP00000353463:A407T;ENSP00000252577:A407T;ENSP00000351552:A407T;ENSP00000388416:A235T|.	ENSP00000252577:A407T|.	A|R	+|+	1|2	0|0	GATAD2A|GATAD2A	19472944|19472944	0.122000|0.122000	0.22280|0.22280	0.056000|0.056000	0.19401|0.19401	0.024000|0.024000	0.10985|0.10985	0.657000|0.657000	0.24963|0.24963	0.782000|0.782000	0.33613|0.33613	-0.187000|-0.187000	0.12897|0.12897	GCC|CGC			0.652	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000326671.4		NM_017660		A	19611944	G	A	19611944	3	1	111	1	0	0	0	0	1	0	0	0	6274	1087	38	1	1249	1	GATAD2A	19	19611944	Missense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10	11452567	19611944	39517039	84	8368											
ZNF432	9668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	52550107	52550107	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatagagaaaaagtcacCtgggcattgatcattttctt	15	13	7	6	0	3	2	2	1	1	1	3	3	3	2	1	1	0	1	1	1	5	6			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr19:52550107C>T	ENST00000594154.1	-	2	227	c.15G>A	c.(13-15)caG>caA	p.Q5Q	ZNF432_ENST00000597273.1_Splice_Site_p.Q5Q|ZNF432_ENST00000598446.1_5'Flank|ZNF432_ENST00000221315.5_Splice_Site_p.Q5Q			O94892	ZN432_HUMAN	zinc finger protein 432	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(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)		AAAAAGTCACCTGGGCATTGA	0.363																																					p.Q5Q													.	.			0			c.G15A												87	79	82					19																	52550107		2203	4300	6503	SO:0001630	splice_region_variant	9668	exon2			AGTCACCTGGGCA	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.15+1G>A	19.37:g.52550107C>T			106	0	0		150	0.19	28	NM_014650	49	0.08	4		Silent	SNP	ENST00000594154.1	37	CCDS12848.1																																																																																					0.363	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462410.1		NM_014650	Silent	T	52550107	C	T	52550107	5	4	111	1	0	0	0	0	0	0	1	0	17929	695	24	3	1959	3	ZNF432	19	52550107	Splice_Site	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	32938163	52550107	6578876	85	8369											
SRMS	6725	mdanderson.org	37	chr20	62172595	62172595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgtgcagcaggacgccgaAggaccagacgtctgacttct	9	7	12	13	4	2	2	0	1	2	1	3	5	2	4	2	2	2	2	2	2	1	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr20:62172595A>G	ENST00000217188.1	-	7	1274	c.1234T>C	c.(1234-1236)Ttc>Ctc	p.F412L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	412	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGACGCCGAAGGACCAGACG	0.607																																					p.F412L													.	.			0			c.T1234C												94	98	97					20																	62172595		2203	4300	6503	SO:0001583	missense	6725	exon7			CGCCGAAGGACCA		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1234T>C	20.37:g.62172595A>G	ENSP00000217188:p.Phe412Leu		51	0	0		48	0.06	3	NM_080823	1	0	0		Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391526	0.83011	.	.	ENSG00000125508	ENST00000217188	D	0.88975	-2.45	4.98	3.88	0.44766	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.226336	0.31167	N	0.008124	D	0.92351	0.7573	M	0.67625	2.065	0.36495	D	0.868652	D	0.69078	0.997	D	0.69479	0.964	D	0.93601	0.6930	10	0.87932	D	0	.	10.2779	0.43521	0.9205:0.0:0.0795:0.0	.	412	Q9H3Y6	SRMS_HUMAN	L	412	ENSP00000217188:F412L	ENSP00000217188:F412L	F	-	1	0	SRMS	61643039	1.000000	0.71417	0.973000	0.42090	0.600000	0.36913	5.657000	0.67996	0.865000	0.35603	0.533000	0.62120	TTC			0.607	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080148.1		NM_080823		G	62172595	A	G	62172595	3	3	111	1	0	0	0	0	1	0	0	0	15175	72	3	4	240	4	SRMS	20	62172595	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10		62172595	852925	86	8370											
LDOC1L	84247	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr22	44893010	44893010	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccgcctccccagtcagtcGagacacaaggaaggccacac	11	4	9	17	2	1	1	1	0	0	1	4	3	3	2	5	2	0	0	5	2	2	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chr22:44893010G>A	ENST00000341255.3	-	2	936	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	143										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCAGTCAGTCGAGACACAAGG	0.612																																					p.R143X													.	LDOC1L	24		0			c.C427T												41	43	42					22																	44893010		2203	4300	6503	SO:0001587	stop_gained	84247	exon2			TCAGTCGAGACAC	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.427C>T	22.37:g.44893010G>A	ENSP00000340434:p.Arg143*		72	0	0		75	0.21	16	NM_032287	20	0.15	3	Q6ZTR1	Nonsense_Mutation	SNP	ENST00000341255.3	37	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	G	41	9.117727	0.99071	.	.	ENSG00000188636	ENST00000341255	.	.	.	3.27	3.27	0.37495	.	0.534989	0.15166	N	0.276937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-8.705	10.3019	0.43656	0.0:0.0:1.0:0.0	.	.	.	.	X	143	.	ENSP00000340434:R143X	R	-	1	2	LDOC1L	43271674	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.502000	0.53332	2.139000	0.66308	0.591000	0.81541	CGA			0.612	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318222.1		NM_032287		A	44893010	G	A	44893010	4	1	111	1	0	0	0	0	0	1	0	0	8725	1066	37	1	296	1	LDOC1L	22	44893010	Nonsense_Mutation	SNP	G	TCGA-XE-A8H5-01A-11D-A435-10		44893010	6411556	87	8371											
RPGR	6103	mdanderson.org	37	chrX	38186593	38186593	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgcgggcgcaactcacCgggcatcagctcttccggct	5	6	13	17	6	3	0	2	0	1	0	4	0	4	0	3	4	2	4	3	4	1	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chrX:38186593C>T	ENST00000339363.3	-	1	195	c.28G>A	c.(28-30)Gat>Aat	p.D10N	RPGR_ENST00000338898.3_Splice_Site_p.D10N|RPGR_ENST00000309513.3_Splice_Site_p.D10N|RPGR_ENST00000378505.2_Splice_Site_p.D10N|RPGR_ENST00000342811.3_Splice_Site_p.D10N|RPGR_ENST00000318842.7_Splice_Site_p.D10N|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	10					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGCAACTCACCGGGCATCAGC	0.746																																					p.D10N													.	.			0			c.G28A												4	5	5					X																	38186593		2010	3996	6006	SO:0001630	splice_region_variant	6103	exon1			ACTCACCGGGCAT	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.28+1G>A	X.37:g.38186593C>T			18	0	0		23	0.09	2	NM_001034853	36	0.03	1	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	C	13.69	2.310970	0.40895	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	3.68	2.81	0.32909	.	0.195047	0.43919	U	0.000505	T	0.71316	0.3325	L	0.38175	1.15	0.33288	D	0.563152	P;B	0.42692	0.787;0.424	B;B	0.43623	0.425;0.221	T	0.73534	-0.3952	9	.	.	.	.	7.9056	0.29761	0.0:0.8733:0.0:0.1267	.	10;10	E9PE28;Q92834-2	.;.	N	10	ENSP00000343671:D10N;ENSP00000308783:D10N;ENSP00000340208:D10N;ENSP00000322219:D10N;ENSP00000339531:D10N;ENSP00000367766:D10N	.	D	-	1	0	RPGR	38071537	0.982000	0.34865	0.996000	0.52242	0.122000	0.20287	2.122000	0.41987	0.695000	0.31675	0.370000	0.22315	GAT			0.746	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_000328	Missense_Mutation	T	38186593	C	T	38186593	5	4	111	1	0	0	0	0	0	0	1	0	13571	666	23	1	4049	1	RPGR	23	38186593	Splice_Site	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10		38186593	117083967	88	8372											
IQSEC2	23096	broad.mit.edu	37	chrX	53263992	53263992	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggggctgctggggaggTgggggaagagagggctgctg	5	6	26	4	0	0	1	0	0	0	1	0	4	0	3	0	9	2	4	0	9	1	0			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chrX:53263992T>G	ENST00000375368.5	-	14	4046	c.3846A>C	c.(3844-3846)ccA>ccC	p.P1282P	IQSEC2_ENST00000396435.3_Silent_p.P1292P|IQSEC2_ENST00000375365.2_3'UTR			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1282	Pro-rich.				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						GCTGGGGAGGTGGGGGAAGAG	0.701													t|||	4	0.0010596	0.0015	0.0014	3775	,	,		4092	0		0	False		,,,				2504	0.001				p.P1292P													.	IQSEC2	195		0			c.A3876C												2	2	2					X																	53263992		579	1233	1812	SO:0001819	synonymous_variant	23096	exon15			GGGAGGTGGGGGA	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.3846A>C	X.37:g.53263992T>G			24	0.0833333333	2		19	0.32	6	NM_001111125	47	0	0	B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37																																																																																						0.701	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding				XM_291345		G	53263992	T	G	53263992	2	3	111	1	0	0	0	0	0	0	0	1	7833	1683	59	4		4	IQSEC2	23	53263992	Silent	SNP	T	TCGA-XE-A8H5-01A-11D-A435-10	15077399	53263992	102006568	89	8373											
AWAT2	158835	broad.mit.edu	37	chrX	69263370	69263370	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaaaggcatccagaaaaAggctcccagtgtgagtatgt	14	7	13	7	0	0	2	0	1	0	1	2	4	2	3	2	3	0	3	2	3	4	1			TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chrX:69263370A>G	ENST00000276101.3	-	4	435	c.430T>C	c.(430-432)Ttt>Ctt	p.F144L		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	144					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						ATCCAGAAAAAGGCTCCCAGT	0.483																																					p.F144L	NSCLC(80;1334 1436 9350 24214 26427)												.	AWAT2	36		0			c.T430C												48	41	43					X																	69263370		2203	4300	6503	SO:0001583	missense	158835	exon4			AGAAAAAGGCTCC	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.430T>C	X.37:g.69263370A>G	ENSP00000421172:p.Phe144Leu		122	0	0		132	0.02	3	NM_001002254	5	0	0	Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.761262	0.31137	.	.	ENSG00000147160	ENST00000276101	D	0.87334	-2.24	5.02	5.02	0.67125	.	0.306960	0.26400	N	0.024590	D	0.83055	0.5171	L	0.32530	0.975	0.32489	N	0.540493	P	0.49961	0.93	P	0.53102	0.718	T	0.80329	-0.1428	10	0.10902	T	0.67	.	7.1606	0.25662	0.7984:0.0:0.0:0.2016	.	144	Q6E213	AWAT2_HUMAN	L	144	ENSP00000421172:F144L	ENSP00000421172:F144L	F	-	1	0	AWAT2	69180095	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	4.020000	0.57189	1.845000	0.53610	0.417000	0.27973	TTT			0.483	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358738.1		NM_001002254		G	69263370	A	G	69263370	3	3	111	1	0	0	0	0	1	0	0	0	1235	72	3	4	587	4	AWAT2	23	69263370	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10	15999378	69263370	86007190	90	8374											
GPRASP1	9737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101909826	101909826	+	Missense_Mutation	SNP	A	A	T																															gagctgggaaggaggccaatAacagggccaggcacagggcc																										TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chrX:101909826A>T	ENST00000361600.5	+	5	1786	c.985A>T	c.(985-987)Aac>Tac	p.N329Y	GPRASP1_ENST00000415986.1_Missense_Mutation_p.N329Y|GPRASP1_ENST00000444152.1_Missense_Mutation_p.N329Y|GPRASP1_ENST00000537097.1_Missense_Mutation_p.N329Y|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	329					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						GGAGGCCAATAACAGGGCCAG	0.478																																					p.N329Y													.	.			0			c.A985T												80	81	81					X																	101909826		2203	4300	6503	SO:0001583	missense	9737	exon3			GCCAATAACAGGG	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.985A>T	X.37:g.101909826A>T	ENSP00000355146:p.Asn329Tyr		31	0	0		35	0.43	15	NM_001099411	3	0.67	2	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	2.385	-0.341140	0.05243	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	1.89	0.712	0.18167	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.14578	0.011	T	0.40794	-0.9544	9	0.56958	D	0.05	4.6325	2.9861	0.05969	0.6599:0.0:0.3401:0.0	.	329	Q5JY77	GASP1_HUMAN	Y	329	ENSP00000393691:N329Y;ENSP00000409420:N329Y;ENSP00000355146:N329Y;ENSP00000445683:N329Y	ENSP00000355146:N329Y	N	+	1	0	GPRASP1	101796482	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	0.198000	0.17217	0.127000	0.18452	0.372000	0.22366	AAC			0.478	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057634.2		NM_014710		T	101909826	A	T	101909826	3	4	111	1	0	0	0	0	1	0	0	0	6737	362	13	5	987	5	GPRASP1	23	101909826	Missense_Mutation	SNP	A	TCGA-XE-A8H5-01A-11D-A435-10	32646456	101909826	53360734	91	8375	15	2									
GPRASP1	9737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	101909834	101909834	+	Silent	SNP	C	C	A																															aaggaggccaataacagggcCaggcacagggccaagcgaga																										TCGA-XE-A8H5-01A-11D-A435-10	TCGA-XE-A8H5-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	665a50ed-6767-411a-b99d-7e994cbe5e17	0ff8a73f-f639-4798-82f0-852d9c183b9d	g.chrX:101909834C>A	ENST00000361600.5	+	5	1794	c.993C>A	c.(991-993)gcC>gcA	p.A331A	GPRASP1_ENST00000415986.1_Silent_p.A331A|GPRASP1_ENST00000444152.1_Silent_p.A331A|GPRASP1_ENST00000537097.1_Silent_p.A331A|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	331					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						ATAACAGGGCCAGGCACAGGG	0.473																																					p.A331A													.	.			0			c.C993A												78	79	79					X																	101909834		2203	4300	6503	SO:0001819	synonymous_variant	9737	exon3			CAGGGCCAGGCAC	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.993C>A	X.37:g.101909834C>A			32	0	0		31	0.45	14	NM_001099411	5	0.4	2	O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	CCDS35352.1																																																																																					0.473	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057634.2		NM_014710		A	101909834	C	A	101909834	2	1	111	1	0	0	0	0	0	0	0	1	6737	581	21	3		3	GPRASP1	23	101909834	Silent	SNP	C	TCGA-XE-A8H5-01A-11D-A435-10	8	101909834	53360726	92	8376	15	2									
LDLRAP1	26119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	25880446	25880446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacagacacgcgggagaCgctgctggaggggatgctgt	8	6	18	9	3	0	2	0	0	0	2	0	6	0	5	0	5	2	3	0	5	0	0	rs142920998		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr1:25880446C>T	ENST00000374338.4	+	2	241	c.122C>T	c.(121-123)aCg>aTg	p.T41M	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	41					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCGGGAGACGCTGCTGGAG	0.642													C|||	1	0.000199681	8e-04	0	5008	,	,		17869	0		0	False		,,,				2504	0				p.T41M													.	.			0			c.C122T							C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	60	49	53		122	5.6	1	1	dbSNP_134	53	0,8600		0,0,4300	no	missense	LDLRAP1	NM_015627.2	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	41/309	25880446	2,13004	2203	4300	6503	SO:0001583	missense	26119	exon2			GGGAGACGCTGCT	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.122C>T	1.37:g.25880446C>T	ENSP00000363458:p.Thr41Met		56	0	0		76	0.28	21	NM_015627	44	0.27	12	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	37	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050575	0.93740	4.54E-4	0.0	ENSG00000157978	ENST00000374338	T	0.63417	-0.04	5.59	5.59	0.84812	Pleckstrin homology-type (1);	0.045089	0.85682	D	0.000000	T	0.71005	0.3289	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.72554	-0.4258	10	0.59425	D	0.04	-12.98	18.5826	0.91177	0.0:1.0:0.0:0.0	.	41	Q5SW96	ARH_HUMAN	M	41	ENSP00000363458:T41M	ENSP00000363458:T41M	T	+	2	0	LDLRAP1	25753033	1.000000	0.71417	0.964000	0.40570	0.969000	0.65631	7.789000	0.85783	2.642000	0.89623	0.561000	0.74099	ACG			0.642	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019350.3		NM_015627		T	25880446	C	T	25880446	3	4	112	1	0	0	0	0	1	0	0	0	8723	536	19	1	128	1	LDLRAP1	1	25880446	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10		25880446	223370175	1	8377											
DOCK7	85440	broad.mit.edu;mdanderson.org	37	chr1	63021531	63021531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtaagtatttggtaggCggaaaacataatgaatatat	16	12	11	2	1	0	1	0	1	0	0	0	2	0	2	0	4	1	3	0	4	10	8	rs370921127		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr1:63021531C>T	ENST00000340370.5	-	21	2578	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	DOCK7_ENST00000251157.5_Missense_Mutation_p.R854H	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	854					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)	p.R854H(1)		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						ATTTGGTAGGCGGAAAACATA	0.333																																					p.R854H													DOCK7,caecum,carcinoma,0,2	DOCK7	184	2	1	Substitution - Missense(1)	large_intestine(1)	c.G2561A												166	157	160					1																	63021531		2203	4300	6503	SO:0001583	missense	85440	exon21			GGTAGGCGGAAAA		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.2561G>A	1.37:g.63021531C>T	ENSP00000340742:p.Arg854His		46	0	0		34	0.09	3	NM_001271999	23	0.3	7	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325675	0.60743	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.32753	1.44;1.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	N	0.25332	0.735	0.80722	D	1	B;B;B;B;B	0.34241	0.046;0.046;0.094;0.444;0.091	B;B;B;B;B	0.33042	0.018;0.018;0.036;0.157;0.045	T	0.02574	-1.1139	10	0.24483	T	0.36	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	854;854;854;854;854	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	H	854	ENSP00000251157:R854H;ENSP00000340742:R854H	ENSP00000251157:R854H	R	-	2	0	DOCK7	62794119	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.932000	0.70121	2.838000	0.97847	0.655000	0.94253	CGC			0.333	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036806.1		NM_033407		T	63021531	C	T	63021531	3	4	112	1	0	0	0	0	1	0	0	0	4697	768	27	1	3884	1	DOCK7	1	63021531	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	37141085	63021531	186229090	2	8378											
KCND3	3752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	112524653	112524653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtgaagatcatgacgcaCgccgtgtccaggcagaagaa	13	5	13	10	4	1	5	1	2	0	3	2	5	2	5	2	2	0	2	2	2	3	0	rs370453605		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr1:112524653C>T	ENST00000315987.2	-	2	1175	c.696G>A	c.(694-696)gcG>gcA	p.A232A	KCND3_ENST00000369697.1_Silent_p.A232A|KCND3_ENST00000302127.4_Silent_p.A232A	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	232					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)	TCATGACGCACGCCGTGTCCA	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		16332	0		0	False		,,,				2504	0				p.A232A													KCND3_ENST00000315987,NS,carcinoma,0,2	KCND3_ENST00000315987	0	2	0			c.G696A							C	,	2,4404	4.2+/-10.8	0,2,2201	35	35	35		696,696	1.3	1	1		35	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KCND3	NM_004980.4,NM_172198.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	232/656,232/637	112524653	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3752	exon2			GACGCACGCCGTG	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.696G>A	1.37:g.112524653C>T			65	0	0		54	0.24	13	NM_004980	0		0	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	CCDS843.1																																																																																					0.667	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000033144.1		NM_172198		T	112524653	C	T	112524653	2	4	112	1	0	0	0	0	0	0	0	1	8035	523	19	1		1	KCND3	1	112524653	Silent	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	49503122	112524653	136725968	3	8379											
RASGRP3	25780	mdanderson.org	37	chr2	33783348	33783348	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagatttgcccgggcGccctccttgagcagtggtca	6	9	14	12	2	1	2	1	1	0	1	2	3	2	2	3	3	3	2	3	3	0	2	rs376806433		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr2:33783348G>T	ENST00000403687.3	+	16	2390	c.1650G>T	c.(1648-1650)gcG>gcT	p.A550A	RASGRP3_ENST00000402538.3_Silent_p.A550A|RASGRP3_ENST00000407811.1_Silent_p.A549A|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	550					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTGCCCGGGCGCCCTCCTTGA	0.557																																					p.A550A													.	.			0			c.G1650T												50	52	51					2																	33783348		1920	4107	6027	SO:0001819	synonymous_variant	25780	exon16			CCGGGCGCCCTCC	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1650G>T	2.37:g.33783348G>T			67	0	0		45	0.07	3	NM_001139488	13	0	0	D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	CCDS46256.1																																																																																					0.557	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325462.2		NM_015376		T	33783348	G	T	33783348	2	4	112	1	0	0	0	0	0	0	0	1	13099	1074	38	1		1	RASGRP3	2	33783348	Silent	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		33783348	209416025	4	8380											
TGFBRAP1	9392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	105886112	105886112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatgctcgcccagctTcccgtgcaggatggcgctct	4	11	10	16	3	2	0	1	0	2	0	5	1	3	1	2	2	3	4	2	2	0	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr2:105886112T>C	ENST00000393359.2	-	11	2449	c.2023A>G	c.(2023-2025)Aag>Gag	p.K675E	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.K675E			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	675					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						TCGCCCAGCTTCCCGTGCAGG	0.647																																					p.K675E	Esophageal Squamous(183;794 2019 9730 21801 48859)												.	.			0			c.A2023G												23	23	23					2																	105886112		2203	4300	6503	SO:0001583	missense	9392	exon11			CCAGCTTCCCGTG	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.2023A>G	2.37:g.105886112T>C	ENSP00000377027:p.Lys675Glu		35	0	0		40	0.25	10	NM_004257	31	0.29	9	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903281	0.92035	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.25085	1.82;1.82	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.87381	2.88	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.995	T	0.65459	-0.6163	10	0.72032	D	0.01	-39.4981	15.3928	0.74758	0.0:0.0:0.0:1.0	.	130;675	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	E	675;675;130	ENSP00000377027:K675E;ENSP00000258449:K675E	ENSP00000258449:K675E	K	-	1	0	TGFBRAP1	105252544	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.698000	0.84413	2.054000	0.61138	0.379000	0.24179	AAG			0.647	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253354.2		NM_004257		C	105886112	T	C	105886112	3	2	112	1	0	0	0	0	1	0	0	0	15847	1792	62	4	567	4	TGFBRAP1	2	105886112	Missense_Mutation	SNP	T	TCGA-XE-A9SE-01A-21D-A435-10	72102764	105886112	137313261	5	8381											
VHL	7428	mdanderson.org	37	chr3	10191524	10191524	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggagcctagtcaagcctGagaattacaggagactggac	12	7	12	10	1	1	2	1	1	0	2	2	6	2	4	3	3	3	0	3	3	4	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr3:10191524G>T	ENST00000256474.2	+	3	1357	c.517G>T	c.(517-519)Gag>Tag	p.E173*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.E132*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	173					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|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)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.E173*(1)|p.E173fs*26(1)|p.E173fs*>42(1)|p.P172_E173del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGTCAAGCCTGAGAATTACAG	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																												p.E173X			yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	VHL,NS,carcinoma,0,1	VHL	0	1	8	Deletion - Frameshift(4)|Deletion - In frame(2)|Substitution - Nonsense(1)|Insertion - Frameshift(1)	kidney(8)	c.G517T	GRCh37	CM982011	VHL	M								90	82	85					3																	10191524		2203	4300	6503	SO:0001587	stop_gained	7428	exon3	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	AAGCCTGAGAATT	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.517G>T	3.37:g.10191524G>T	ENSP00000256474:p.Glu173*		52	0	0		41	0.07	3	NM_000551	88	0	0	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609534	0.87258	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.86	4.86	0.63082	.	0.053579	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.7954	15.8663	0.79067	0.0:0.0:1.0:0.0	.	.	.	.	X	173;132;91	.	ENSP00000256474:E173X	E	+	1	0	VHL	10166524	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.212000	0.58514	2.676000	0.91093	0.655000	0.94253	GAG			0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250559.1		NM_000551		T	10191524	G	T	10191524	4	4	112	1	0	0	0	0	0	1	0	0	17186	1291	45	3	527	3	VHL	3	10191524	Nonsense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		10191524	187830906	6	8382											
HACL1	26061	ucsc.edu;bcgsc.ca	37	chr3	15621444	15621444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcacctacacagtatGgatggttgtcagggacaaca	11	9	12	9	0	1	0	1	0	0	0	1	2	1	2	1	4	3	4	1	4	3	3			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr3:15621444G>T	ENST00000321169.5	-	9	1143	c.776C>A	c.(775-777)cCa>cAa	p.P259Q	HACL1_ENST00000457447.2_Missense_Mutation_p.P233Q|HACL1_ENST00000456194.2_Missense_Mutation_p.P232Q|HACL1_ENST00000451445.2_Missense_Mutation_p.P177Q|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	259					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						TACACAGTATGGATGGTTGTC	0.418																																					p.P259Q													.	HACL1	33		0			c.C776A												118	108	111					3																	15621444		2203	4300	6503	SO:0001583	missense	26061	exon9			CAGTATGGATGGT	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.776C>A	3.37:g.15621444G>T	ENSP00000323811:p.Pro259Gln		68	0	0		42	0.1	4	NM_012260	66	0	0	B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925020	0.52759	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447;ENST00000421993	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.65	4.77	0.60923	Thiamine pyrophosphate enzyme, central domain (1);	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	H	0.95470	3.675	0.80722	D	1	D;P;P;P	0.71674	0.998;0.872;0.872;0.872	D;P;P;P	0.68039	0.955;0.493;0.76;0.691	D	0.84758	0.0760	10	0.54805	T	0.06	.	14.0377	0.64656	0.0732:0.0:0.9268:0.0	.	177;233;232;259	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	Q	259;177;232;233;232	ENSP00000323811:P259Q;ENSP00000403656:P177Q;ENSP00000390699:P232Q;ENSP00000404883:P233Q;ENSP00000391393:P232Q	ENSP00000323811:P259Q	P	-	2	0	HACL1	15596448	1.000000	0.71417	0.899000	0.35326	0.559000	0.35586	4.101000	0.57769	1.389000	0.46526	0.563000	0.77884	CCA			0.418	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252104.3		NM_012260		T	15621444	G	T	15621444	3	4	112	1	0	0	0	0	1	0	0	0	6956	1348	47	3	996	3	HACL1	3	15621444	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	5429920	15621444	182400986	7	8383											
QRICH1	54870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49094416	49094416	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtttgagccgtattctggTacgtgcctgccacagcctgc	6	11	11	13	2	1	1	0	1	1	0	1	1	1	1	4	1	6	3	4	1	2	4			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr3:49094416T>A	ENST00000395443.2	-	3	1689	c.1217A>T	c.(1216-1218)tAc>tTc	p.Y406F	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Y406F|QRICH1_ENST00000357496.2_Missense_Mutation_p.Y406F	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	406	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTATTCTGGTACGTGCCTGC	0.552																																					p.Y406F													.	.			0			c.A1217T												101	90	93					3																	49094416		2203	4300	6503	SO:0001583	missense	54870	exon3			TTCTGGTACGTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1217A>T	3.37:g.49094416T>A	ENSP00000378830:p.Tyr406Phe		131	0	0		105	0.15	16	NM_198880	113	0.3	34	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741862	0.49151	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.27053	0.805	0.50171	D	0.999851	P	0.49783	0.928	B	0.39465	0.3	T	0.41770	-0.9490	9	0.49607	T	0.09	-2.5458	16.6407	0.85098	0.0:0.0:0.0:1.0	.	406	Q2TAL8	QRIC1_HUMAN	F	406	.	ENSP00000350094:Y406F	Y	-	2	0	QRICH1	49069420	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	5.525000	0.67110	2.326000	0.78906	0.533000	0.62120	TAC			0.552	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345669.1		NM_017730		A	49094416	T	A	49094416	3	1	112	1	0	0	0	0	1	0	0	0	12902	1638	57	5	1145	5	QRICH1	3	49094416	Missense_Mutation	SNP	T	TCGA-XE-A9SE-01A-21D-A435-10	33472972	49094416	148928014	8	8384											
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	13	13	8	7	2	0	3	0	2	0	1	1	4	0	3	1	0	3	2	1	0	6	6	rs121913284		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345K(44)		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)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.N345K	Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	PIK3CA_ENST00000263967,NS,adenocarcinoma,0,61	PIK3CA_ENST00000263967	0	61	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)	c.T1035A												67	66	66					3																	178921553		1807	4074	5881	SO:0001583	missense	5290	exon5			CGTGAATGTAAAT		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.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		64	0	0		89	0.29	26	NM_006218	18	0.39	7	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT			0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000348409.2				A	178921553	T	A	178921553	3	1	112	1	0	0	0	0	1	0	0	0	11930	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-XE-A9SE-01A-21D-A435-10	129827137	178921553	19100877	9	8385											
SCARB2	950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	77091110	77091110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatctgcttggtaaaaGtgtgggaaagacataatgat	13	12	10	6	0	2	2	1	1	2	1	3	3	2	3	0	2	1	2	0	2	4	3			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr4:77091110G>C	ENST00000264896.2	-	8	1372	c.1023C>G	c.(1021-1023)caC>caG	p.H341Q	SCARB2_ENST00000452464.2_Missense_Mutation_p.H198Q	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	341					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTTGGTAAAAGTGTGGGAAAG	0.393																																					p.H341Q													SCARB2,NS,carcinoma,-2,1	SCARB2	-2	1	0			c.C1023G												147	138	141					4																	77091110		2203	4300	6503	SO:0001583	missense	950	exon8			GTAAAAGTGTGGG	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1023C>G	4.37:g.77091110G>C	ENSP00000264896:p.His341Gln		172	0	0		89	0.12	11	NM_005506	123	0.14	17	B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522885	0.64747	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	D;D	0.90385	-2.66;-2.66	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	H	0.95850	3.73	0.58432	D	0.999992	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.989	D	0.96094	0.9064	10	0.87932	D	0	.	7.8673	0.29545	0.1796:0.0:0.8204:0.0	.	198;341	E7EM68;Q14108	.;SCRB2_HUMAN	Q	341;198	ENSP00000264896:H341Q;ENSP00000399154:H198Q	ENSP00000264896:H341Q	H	-	3	2	SCARB2	77310134	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.527000	0.53517	2.406000	0.81754	0.460000	0.39030	CAC			0.393	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252403.1		NM_005506		C	77091110	G	C	77091110	3	2	112	1	0	0	0	0	1	0	0	0	13905	1020	36	5	433	5	SCARB2	4	77091110	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		77091110	114063166	10	8386											
SDHA	6389	broad.mit.edu	37	chr5	228449	228449	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacactgttgttgccacaggGtaggaatctcatttctactt	10	14	8	9	0	2	0	1	0	2	0	3	1	2	1	1	2	3	3	1	2	4	6			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr5:228449G>T	ENST00000264932.6	+	6	885		c.e6+1		SDHA_ENST00000504309.1_Splice_Site|SDHA_ENST00000510361.1_Splice_Site	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)						cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TTGCCACAGGGTAGGAATCTC	0.383									Familial Paragangliomas																												.													.	SDHA	80		0			c.770+1G>T												85	78	81					5																	228449		2203	4300	6503	SO:0001630	splice_region_variant	6389	exon6	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	CACAGGGTAGGAA	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.770+1G>T	5.37:g.228449G>T			51	0	0		52	0.06	3	NM_004168	0		0	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Splice_Site	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350481	0.61183	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7213	0.85410	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHA	281449	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.074000	0.93998	2.633000	0.89246	0.644000	0.83932	.			0.383	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206599.1		NM_004168	Intron	T	228449	G	T	228449	5	4	112	1	0	0	0	0	0	0	1	0	13986	1275	44	3	793	3	SDHA	5	228449	Splice_Site	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		228449	180686811	11	8387											
CHSY3	337876	mdanderson.org	37	chr5	129241175	129241175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacgccggccagccccCgccacccctgcctgtcatcg	5	4	8	24	4	1	0	1	0	0	0	2	0	1	0	10	1	3	0	10	1	1	0			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr5:129241175C>A	ENST00000305031.4	+	1	1011	c.653C>A	c.(652-654)cCg>cAg	p.P218Q	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	218	Pro-rich.				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)		GGCCAGCCCCCGCCACCCCTG	0.662																																					p.P218Q													.	.			0			c.C653A												25	32	30					5																	129241175		2173	4276	6449	SO:0001583	missense	337876	exon1			AGCCCCCGCCACC	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.653C>A	5.37:g.129241175C>A	ENSP00000302629:p.Pro218Gln		53	0	0		50	0.06	3	NM_175856	1	0	0	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437141	0.25900	.	.	ENSG00000198108	ENST00000305031	T	0.34472	1.36	3.37	2.5	0.30297	.	0.000000	0.35096	U	0.003458	T	0.22399	0.0540	L	0.35854	1.095	0.38561	D	0.949716	P	0.35656	0.514	B	0.33521	0.165	T	0.06232	-1.0838	9	.	.	.	.	5.1763	0.15137	0.165:0.6515:0.0:0.1835	.	218	Q70JA7	CHSS3_HUMAN	Q	218	ENSP00000302629:P218Q	.	P	+	2	0	CHSY3	129269074	0.297000	0.24408	0.992000	0.48379	0.915000	0.54546	2.118000	0.41949	0.995000	0.38917	0.305000	0.20034	CCG			0.662	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371453.1		NM_175856		A	129241175	C	A	129241175	3	1	112	1	0	0	0	0	1	0	0	0	3415	652	23	1	655	1	CHSY3	5	129241175	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	129012726	129241175	51674085	12	8388											
GRK6	2870	mdanderson.org	37	chr5	176863196	176863196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggaagaagaagatcaagCgggaggaggtggagcggctg	14	3	20	4	2	1	4	1	0	0	4	1	8	1	8	0	6	2	1	0	6	4	0			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr5:176863196C>T	ENST00000355472.5	+	12	1348	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Missense_Mutation_p.R360W|GRK6_ENST00000507633.1_Missense_Mutation_p.R394W|GRK6_ENST00000528793.1_Missense_Mutation_p.R394W|GRK6_ENST00000355958.5_Missense_Mutation_p.R394W	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	394	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGATCAAGCGGGAGGAGGT	0.627																																					p.R394W													.	.			0			c.C1180T												63	76	72					5																	176863196		2203	4300	6503	SO:0001583	missense	2870	exon12			ATCAAGCGGGAGG		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1180C>T	5.37:g.176863196C>T	ENSP00000347655:p.Arg394Trp		75	0	0		47	0.06	3	NM_001004106	133	0.01	1	O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.758984	0.69763	.	.	ENSG00000198055	ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.9	4.06	0.47325	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	0.44932	0.1317	L	0.50847	1.595	0.80722	D	1	D;P;P;D	0.89917	0.999;0.601;0.896;1.0	D;B;B;D	0.79784	0.941;0.213;0.129;0.993	T	0.33189	-0.9878	10	0.52906	T	0.07	-28.6486	15.1362	0.72569	0.2583:0.7417:0.0:0.0	.	394;364;394;394	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	W	394;394;360;394;394	ENSP00000347655:R394W;ENSP00000427581:R394W;ENSP00000377204:R360W;ENSP00000348230:R394W;ENSP00000433511:R394W	ENSP00000347655:R394W	R	+	1	2	GRK6	176795802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.867000	0.27968	0.778000	0.33520	-0.188000	0.12872	CGG			0.627	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000373204.1		NM_002082		T	176863196	C	T	176863196	3	4	112	1	0	0	0	0	1	0	0	0	6808	759	27	1	1226	1	GRK6	5	176863196	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	47622021	176863196	4052064	13	8389											
NOD1	10392	broad.mit.edu	37	chr7	30491698	30491698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctccactgggctgcgtgtGttccgctgcaccaggctgct	3	11	13	14	2	1	0	0	0	1	0	3	0	2	0	3	2	3	6	3	2	0	1	rs5743343	byFrequency	TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr7:30491698G>T	ENST00000222823.4	-	6	1860	c.1335C>A	c.(1333-1335)aaC>aaA	p.N445K		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	445	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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						GGCTGCGTGTGTTCCGCTGCA	0.637																																					p.N445K													.	NOD1	79		0			c.C1335A												49	49	49					7																	30491698		2203	4300	6503	SO:0001583	missense	10392	exon6			GCGTGTGTTCCGC	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.1335C>A	7.37:g.30491698G>T	ENSP00000222823:p.Asn445Lys		79	0	0		117	0.03	4	NM_006092	10	0	0	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158728	0.57368	.	.	ENSG00000106100	ENST00000222823	T	0.70045	-0.45	5.74	4.84	0.62591	NACHT nucleoside triphosphatase (1);	0.301030	0.42420	D	0.000714	T	0.50514	0.1620	N	0.22421	0.69	0.80722	D	1	P	0.49090	0.919	P	0.45343	0.477	T	0.52034	-0.8629	10	0.05959	T	0.93	.	10.9408	0.47273	0.0718:0.1313:0.7968:0.0	.	445	Q9Y239	NOD1_HUMAN	K	445	ENSP00000222823:N445K	ENSP00000222823:N445K	N	-	3	2	NOD1	30458223	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.874000	0.56101	1.382000	0.46385	0.655000	0.94253	AAC			0.637	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250443.2				T	30491698	G	T	30491698	3	4	112	1	0	0	0	0	1	0	0	0	10533	1368	48	3	1562	3	NOD1	7	30491698	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		30491698	128646965	14	8390											
PKD1L1	168507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	47947691	47947691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacttttctgattcacttggGagtcagcaaagacaagcact	12	12	8	9	0	3	2	2	1	1	1	3	3	3	3	0	1	3	2	0	1	3	5			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr7:47947691G>A	ENST00000289672.2	-	9	1435	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	462					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						ATTCACTTGGGAGTCAGCAAA	0.453																																					p.S462F													.	.			0			c.C1385T												103	92	95					7																	47947691		2203	4300	6503	SO:0001583	missense	168507	exon9			ACTTGGGAGTCAG	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.1385C>T	7.37:g.47947691G>A	ENSP00000289672:p.Ser462Phe		75	0	0		69	0.13	9	NM_138295	2	0	0	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959007	0.53400	.	.	ENSG00000158683	ENST00000289672	T	0.22336	1.96	5.17	5.17	0.71159	.	0.314057	0.24649	N	0.036740	T	0.30510	0.0767	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	D	0.65573	0.936	T	0.09314	-1.0680	10	0.52906	T	0.07	-24.5499	14.215	0.65788	0.0:0.0:1.0:0.0	.	462	Q8TDX9	PK1L1_HUMAN	F	462	ENSP00000289672:S462F	ENSP00000289672:S462F	S	-	2	0	PKD1L1	47914216	0.088000	0.21588	0.047000	0.18901	0.008000	0.06430	2.783000	0.47766	2.418000	0.82041	0.650000	0.86243	TCC			0.453	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340974.1		NM_138295		A	47947691	G	A	47947691	3	1	112	1	0	0	0	0	1	0	0	0	11981	1174	41	3	7360	3	PKD1L1	7	47947691	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	17455993	47947691	111190972	15	8391											
ZNF277	11179	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	111926968	111926969	+	Frame_Shift_Ins	INS	-	-	AGTCC																															agccgctttccctgccagaaINSagtccaggtggcaccaccac																										TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr7:111926968_111926969insAGTCC	ENST00000361822.3	+	2	261_262	c.132_133insAGTCC	c.(133-135)agtfs	p.-46fs	ZNF277_ENST00000421043.1_Frame_Shift_Ins_p.-46fs|ZNF277_ENST00000450657.1_Frame_Shift_Ins_p.-46fs|RN7SKP187_ENST00000365536.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277						cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCCTGCCAGAAAGTCCAGGTGG	0.406																																					p.E44fs													.	ZNF277	46		0			c.132_133insAGTCC																																									SO:0001589	frameshift_variant	11179	exon2			GCCAGAAAGTCCA	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.133_137dupAGTCC	7.37:g.111926969_111926973dupAGTCC	ENSP00000354501:p.Pro46fs		103	0	0		96	0.14	13	NM_021994	17	0	0	Q75MZ2|Q75MZ3|Q8WY14	Frame_Shift_Ins	INS	ENST00000361822.3	37	CCDS5755.2																																																																																					0.406	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316843.2		NM_021994		AGTCC	111926969	-	AGTCC	111926968	7	5	112	1	0	1	1	0	0	0	0	0	17835	11	1	0	138	0	ZNF277	7	111926968	Frame_Shift_Ins	INS	-	TCGA-XE-A9SE-01A-21D-A435-10	63979277	111926968	47211695	16	8392											
SIGMAR1	10280	mdanderson.org	37	chr9	34635841	34635841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcctcaccaggcccgtGtactaccgtctcccctgggg	4	10	11	16	2	2	0	1	0	1	0	3	0	2	0	6	3	3	2	6	3	2	3			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr9:34635841G>T	ENST00000277010.4	-	4	533	c.460C>A	c.(460-462)Cac>Aac	p.H154N	SIGMAR1_ENST00000477726.1_Missense_Mutation_p.H123N|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_Missense_Mutation_p.H65N	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	154					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)	CCAGGCCCGTGTACTACCGTC	0.642																																					p.H154N													.	.			0			c.C460A												71	68	69					9																	34635841		2203	4300	6503	SO:0001583	missense	10280	exon4			GCCCGTGTACTAC	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.460C>A	9.37:g.34635841G>T	ENSP00000277010:p.His154Asn		45	0	0		30	0.1	3	NM_005866	55	0	0	D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Missense_Mutation	SNP	ENST00000277010.4	37	CCDS6562.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659602	0.67586	.	.	ENSG00000147955	ENST00000378892;ENST00000277010;ENST00000360710;ENST00000477726	T;T;T	0.66815	-0.23;-0.23;-0.23	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.81239	2.535	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.972;0.995	D	0.85132	0.0975	10	0.72032	D	0.01	-15.1296	16.3227	0.82956	0.0:0.0:1.0:0.0	.	123;154;134	A2A3U5;Q99720;Q99720-2	.;SGMR1_HUMAN;.	N	65;154;120;123	ENSP00000368170:H65N;ENSP00000277010:H154N;ENSP00000420022:H123N	ENSP00000277010:H154N	H	-	1	0	SIGMAR1	34625841	1.000000	0.71417	0.905000	0.35620	0.634000	0.38068	9.202000	0.95026	2.425000	0.82216	0.462000	0.41574	CAC			0.642	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052204.1		NM_005866		T	34635841	G	T	34635841	3	4	112	1	0	0	0	0	1	0	0	0	14339	1377	48	3	215	3	SIGMAR1	9	34635841	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		34635841	106577590	17	8393											
FAM120A	23196	mdanderson.org	37	chr9	96320139	96320139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaaggtagagaagatgCgccagagcgtcctcgagggg	10	5	16	10	3	0	3	0	0	0	3	2	5	1	3	3	3	3	1	3	3	3	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr9:96320139C>T	ENST00000277165.6	+	14	2709	c.2515C>T	c.(2515-2517)Cgc>Tgc	p.R839C	FAM120A_ENST00000340893.4_Missense_Mutation_p.R839C|FAM120A_ENST00000333936.5_Missense_Mutation_p.R867C	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	839	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGAGAAGATGCGCCAGAGCGT	0.572																																					p.R839C													.	.			0			c.C2515T												63	56	59					9																	96320139		2203	4300	6503	SO:0001583	missense	23196	exon14			AAGATGCGCCAGA	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2515C>T	9.37:g.96320139C>T	ENSP00000277165:p.Arg839Cys		27	0	0		33	0.09	3	NM_014612	47	0	0	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419011	0.83559	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.60920	0.63;0.67;0.53;0.15	5.85	3.95	0.45737	.	0.194749	0.39475	N	0.001345	T	0.71409	0.3336	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.85130	0.897;0.997;0.996	T	0.73824	-0.3861	10	0.87932	D	0	-13.3557	14.9661	0.71196	0.2612:0.7388:0.0:0.0	.	839;867;839	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	C	839;867;839;261	ENSP00000277165:R839C;ENSP00000334918:R867C;ENSP00000344698:R839C;ENSP00000412440:R261C	ENSP00000277165:R839C	R	+	1	0	FAM120A	95359960	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	5.777000	0.68931	0.750000	0.32877	0.655000	0.94253	CGC			0.572	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053160.2		NM_014612		T	96320139	C	T	96320139	3	4	112	1	0	0	0	0	1	0	0	0	5425	768	27	1	2569	1	FAM120A	9	96320139	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	61684298	96320139	44893292	18	8394											
RABEPK	10244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	127996190	127996190	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagactgctacactgctctgTttggtgtttggtgggatgaa	7	14	13	7	0	1	2	0	1	1	1	1	3	1	3	0	3	3	4	0	3	2	3			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr9:127996190T>C	ENST00000373538.3	+	8	1360	c.1050T>C	c.(1048-1050)tgT>tgC	p.C350C	RABEPK_ENST00000259460.8_Silent_p.C299C|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Silent_p.C350C	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	350					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CACTGCTCTGTTTGGTGTTTG	0.423																																					p.C350C													.	.			0			c.T1050C												205	194	198					9																	127996190		2203	4300	6503	SO:0001819	synonymous_variant	10244	exon8			GCTCTGTTTGGTG	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.1050T>C	9.37:g.127996190T>C			208	0	0		192	0.08	15	NM_005833	41	0.1	4	A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Silent	SNP	ENST00000373538.3	37	CCDS6862.1																																																																																					0.423	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054064.1		NM_005833		C	127996190	T	C	127996190	2	2	112	1	0	0	0	0	0	0	0	1	12986	1731	60	4		4	RABEPK	9	127996190	Silent	SNP	T	TCGA-XE-A9SE-01A-21D-A435-10	31676051	127996190	13217241	19	8395											
OR13A1	79290	mdanderson.org	37	chr10	45799527	45799527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatagagctgggccatgCagcccccgtaggagatggag	11	5	16	9	1	0	2	0	0	0	2	0	5	0	4	3	4	3	3	3	4	3	2	rs115582445	byFrequency	TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr10:45799527C>T	ENST00000553795.1	-	4	652	c.344G>A	c.(343-345)tGc>tAc	p.C115Y	OR13A1_ENST00000536058.1_Missense_Mutation_p.C115Y|OR13A1_ENST00000374401.2_Missense_Mutation_p.C115Y	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	115						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(9)|skin(2)|urinary_tract(1)	19						CTGGGCCATGCAGCCCCCGTA	0.592																																					p.C115Y													.	.			0			c.G344A												51	45	47					10																	45799527		2203	4300	6503	SO:0001583	missense	79290	exon4			GCCATGCAGCCCC	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.344G>A	10.37:g.45799527C>T	ENSP00000451950:p.Cys115Tyr		94	0	0		48	0.06	3	NM_001004297	0		0	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	c	17.52	3.410093	0.62399	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00547	6.66;6.66;6.66	5.58	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000177	T	0.01523	0.0049	H	0.94503	3.545	0.49130	D	0.999758	P	0.41450	0.75	B	0.43360	0.417	T	0.34279	-0.9835	10	0.87932	D	0	-67.8229	8.795	0.34874	0.15:0.7709:0.0:0.0791	.	115	Q8NGR1	O13A1_HUMAN	Y	115	ENSP00000451950:C115Y;ENSP00000438657:C115Y;ENSP00000363522:C115Y	ENSP00000311379:C115Y	C	-	2	0	OR13A1	45119533	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.755000	0.55197	0.704000	0.31869	0.650000	0.86243	TGC			0.592	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047779.2		NM_001004297		T	45799527	C	T	45799527	3	4	112	1	0	0	0	0	1	0	0	0	10950	710	25	2	646	2	OR13A1	10	45799527	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10		45799527	89735220	20	8396											
TET1	80312	hgsc.bcm.edu;mdanderson.org	37	chr10	70333543	70333543	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcaatcatcatcaaactCagagaaaaattcattacctc	16	11	2	12	0	6	1	6	0	0	1	8	2	7	1	2	0	2	0	2	0	5	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr10:70333543C>G	ENST00000373644.4	+	2	1657	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	483					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						TCATCAAACTCAGAGAAAAAT	0.453																																					p.S483X													.	.			0			c.C1448G												48	46	47					10																	70333543		2203	4300	6503	SO:0001587	stop_gained	80312	exon2			CAAACTCAGAGAA	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.1448C>G	10.37:g.70333543C>G	ENSP00000362748:p.Ser483*		99	0	0		84	0.08	7	NM_030625	12	0.25	3	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	37	6.435580	0.97564	.	.	ENSG00000138336	ENST00000373644	.	.	.	5.31	3.1	0.35709	.	1.577610	0.04056	N	0.305535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	7.1634	0.25677	0.0:0.7219:0.0:0.2781	.	.	.	.	X	483	.	ENSP00000362748:S483X	S	+	2	0	TET1	70003549	0.018000	0.18449	0.579000	0.28588	0.812000	0.45895	2.001000	0.40825	1.240000	0.43803	0.305000	0.20034	TCA			0.453	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048354.1		NM_030625		G	70333543	C	G	70333543	4	3	112	1	0	0	0	0	0	1	0	0	15792	838	29	5	1450	5	TET1	10	70333543	Nonsense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	24534016	70333543	65201204	21	8397											
PHLDA2	7262	broad.mit.edu	37	chr11	2950513	2950513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaggtgagcaccccgcGcttcttcttccatagctgga	6	10	12	13	3	2	1	0	1	2	0	4	3	3	3	3	3	2	3	3	3	1	4	rs554708054		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr11:2950513G>T	ENST00000314222.4	-	1	172	c.82C>A	c.(82-84)Cgc>Agc	p.R28S		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	28	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R28S(1)		central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCACCCCGCGCTTCTTCTTC	0.672																																					p.R28S													PHLDA2,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	PHLDA2	10	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.C82A												18	20	19					11																	2950513		2199	4297	6496	SO:0001583	missense	7262	exon1			CCCCGCGCTTCTT	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"Pleckstrin homology (PH) domain containing"	12385	protein-coding gene	gene with protein product		602131	"tumor suppressing subtransferable candidate 3"	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.82C>A	11.37:g.2950513G>T	ENSP00000319231:p.Arg28Ser		82	0.012195122	1		54	0.07	4	NM_003311	8	0	0	O00496	Missense_Mutation	SNP	ENST00000314222.4	37	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727508	0.69074	.	.	ENSG00000181649	ENST00000314222	T	0.45668	0.89	3.51	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.303419	0.25124	U	0.032956	T	0.43055	0.1230	M	0.66939	2.045	0.40575	D	0.98133	P	0.43578	0.811	B	0.39771	0.309	T	0.53507	-0.8429	10	0.44086	T	0.13	-19.9369	15.3955	0.74790	0.0:0.0:1.0:0.0	.	28	Q53GA4	PHLA2_HUMAN	S	28	ENSP00000319231:R28S	ENSP00000319231:R28S	R	-	1	0	PHLDA2	2907089	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.678000	0.46900	1.660000	0.50760	0.313000	0.20887	CGC			0.672	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030116.1		NM_003311		T	2950513	G	T	2950513	3	4	112	1	0	0	0	0	1	0	0	0	11866	1087	38	1	380	1	PHLDA2	11	2950513	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		2950513	132056003	22	8398											
ZNF215	7762	mdanderson.org	37	chr11	6953825	6953825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagaagtcaggacttggGtgaatttacaacatccaaac	15	9	9	8	0	1	3	1	2	0	1	2	4	2	4	1	2	3	0	1	2	6	3			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr11:6953825G>T	ENST00000278319.5	+	3	910	c.322G>T	c.(322-324)Gtg>Ttg	p.V108L	ZNF215_ENST00000529903.1_Missense_Mutation_p.V108L|ZNF215_ENST00000414517.2_Missense_Mutation_p.V108L|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	108	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAGGACTTGGGTGAATTTACA	0.383																																					p.V108L													.	.			0			c.G322T												61	65	64					11																	6953825		2201	4296	6497	SO:0001583	missense	7762	exon3			ACTTGGGTGAATT	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.322G>T	11.37:g.6953825G>T	ENSP00000278319:p.Val108Leu		69	0	0		49	0.06	3	NM_013250	7	0	0	Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617525	0.46736	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.08896	3.04;3.04;3.04	3.86	3.86	0.44501	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.36555	N	0.002527	T	0.24586	0.0596	M	0.66378	2.025	0.26746	N	0.970303	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.85130	0.994;0.994;0.997	T	0.00819	-1.1553	10	0.87932	D	0	-13.6592	11.6165	0.51092	0.0:0.0:1.0:0.0	.	108;108;108	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	L	108	ENSP00000278319:V108L;ENSP00000393202:V108L;ENSP00000432306:V108L	ENSP00000278319:V108L	V	+	1	0	ZNF215	6910401	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	4.673000	0.61604	2.427000	0.82271	0.655000	0.94253	GTG			0.383	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384550.1				T	6953825	G	T	6953825	3	4	112	1	0	0	0	0	1	0	0	0	17794	1261	44	3	324	3	ZNF215	11	6953825	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	4003312	6953825	128052691	23	8399											
SCUBE2	57758	mdanderson.org	37	chr11	9082017	9082017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaactgcagtggacacctGtcgaagtatccttacaggtg	11	9	11	10	1	0	0	0	0	0	0	2	3	1	1	2	2	3	2	2	2	4	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr11:9082017G>T	ENST00000309263.3	-	8	977	c.905C>A	c.(904-906)aCa>aAa	p.T302K	SCUBE2_ENST00000520467.1_Missense_Mutation_p.T302K|SCUBE2_ENST00000450649.2_Missense_Mutation_p.T302K|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.T302K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	302	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GTGGACACCTGTCGAAGTATC	0.507																																					p.T302K													.	.			0			c.C905A												171	154	160					11																	9082017		2201	4296	6497	SO:0001583	missense	57758	exon8			ACACCTGTCGAAG	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.905C>A	11.37:g.9082017G>T	ENSP00000310658:p.Thr302Lys		59	0	0		50	0.06	3	NM_001170690	0		0	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.471950|4.471950	0.84533|0.84533	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000519788;ENST00000531429|ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	.|D;D;D;D	.|0.87103	.|-2.21;-2.21;-2.21;-2.21	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Epidermal growth factor-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94195|0.94195	0.8137|0.8137	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;0.999	D|D	0.92837|0.92837	0.6285|0.6285	5|10	.|0.41790	.|T	.|0.15	.|.	20.3736|20.3736	0.98901|0.98901	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|302;302;302	.|Q9NQ36-3;Q9NQ36-2;Q9NQ36	.|.;.;SCUB2_HUMAN	K|K	26;67|302	.|ENSP00000390481:T302K;ENSP00000310658:T302K;ENSP00000415187:T302K;ENSP00000429969:T302K	.|ENSP00000310658:T302K	Q|T	-|-	1|2	0|0	SCUBE2|SCUBE2	9038593|9038593	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.977000|0.977000	0.68977|0.68977	9.869000|9.869000	0.99810|0.99810	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	CAG|ACA			0.507	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000385812.2		NM_020974		T	9082017	G	T	9082017	3	4	112	1	0	0	0	0	1	0	0	0	13968	1377	48	3	2245	3	SCUBE2	11	9082017	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	2128192	9082017	125924499	24	8400											
LDHAL6A	160287	mdanderson.org	37	chr11	18500372	18500372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggcctgcttgcaaaaGagtgcagaaacactttggga	13	7	14	7	0	0	2	0	0	0	2	0	5	0	4	1	3	4	3	1	3	3	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr11:18500372G>T	ENST00000280706.2	+	7	1751	c.954G>T	c.(952-954)aaG>aaT	p.K318N	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.K318N	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	318					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						GCTTGCAAAAGAGTGCAGAAA	0.383																																					p.K318N													.	.			0			c.G954T												152	165	160					11																	18500372		2199	4293	6492	SO:0001583	missense	160287	exon7			GCAAAAGAGTGCA	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.954G>T	11.37:g.18500372G>T	ENSP00000280706:p.Lys318Asn		38	0	0		19	0.16	3	NM_144972	0		0	D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975189	0.34848	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	T;T	0.69175	-0.38;-0.38	4.06	3.14	0.36123	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.082018	0.48286	U	0.000198	T	0.75729	0.3889	M	0.64567	1.98	0.48040	D	0.999577	D	0.76494	0.999	D	0.68353	0.957	T	0.74340	-0.3697	10	0.48119	T	0.1	.	10.4535	0.44537	0.099:0.0:0.901:0.0	.	318	Q6ZMR3	LDH6A_HUMAN	N	318	ENSP00000379516:K318N;ENSP00000280706:K318N	ENSP00000280706:K318N	K	+	3	2	LDHAL6A	18456948	1.000000	0.71417	0.050000	0.19076	0.685000	0.39939	1.918000	0.40006	0.696000	0.31696	0.555000	0.69702	AAG			0.383	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395904.1		NM_144972		T	18500372	G	T	18500372	3	4	112	1	0	0	0	0	1	0	0	0	8714	933	33	3	980	3	LDHAL6A	11	18500372	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	9418355	18500372	116506144	25	8401											
TMEM132A	54972	mdanderson.org	37	chr11	60698068	60698068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagctggaccgcttcaaggGctccaggcaccacaccaccc	10	4	9	18	1	1	0	1	0	0	0	2	1	2	1	5	3	1	4	5	3	2	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr11:60698068G>T	ENST00000453848.2	+	5	1111	c.953G>T	c.(952-954)gGc>gTc	p.G318V	TMEM132A_ENST00000005286.4_Missense_Mutation_p.G318V			Q24JP5	T132A_HUMAN	transmembrane protein 132A	318						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						CGCTTCAAGGGCTCCAGGCAC	0.642																																					p.G318V													.	.			0			c.G953T												72	76	75					11																	60698068		2203	4299	6502	SO:0001583	missense	54972	exon5			TCAAGGGCTCCAG	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.953G>T	11.37:g.60698068G>T	ENSP00000405823:p.Gly318Val		39	0	0		37	0.08	3	NM_017870	122	0	0	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014113	0.75161	.	.	ENSG00000006118	ENST00000544065;ENST00000444690;ENST00000453848;ENST00000005286	T;T;T	0.19250	2.83;2.16;2.16	5.5	4.58	0.56647	.	0.083355	0.49305	D	0.000145	T	0.46073	0.1374	M	0.70595	2.14	0.53688	D	0.999972	D;P;D;D	0.89917	1.0;0.926;1.0;1.0	D;P;D;D	0.97110	1.0;0.68;0.993;1.0	T	0.50056	-0.8872	10	0.87932	D	0	.	14.7648	0.69632	0.0:0.1442:0.8558:0.0	.	307;68;318;318	Q24JP5-3;Q24JP5-4;Q24JP5;Q24JP5-2	.;.;T132A_HUMAN;.	V	56;68;318;318	ENSP00000442754:G56V;ENSP00000405823:G318V;ENSP00000005286:G318V	ENSP00000005286:G318V	G	+	2	0	TMEM132A	60454644	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.317000	0.59184	1.448000	0.47680	0.655000	0.94253	GGC			0.642	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000396352.1		NM_017870		T	60698068	G	T	60698068	3	4	112	1	0	0	0	0	1	0	0	0	16068	1203	42	2	971	2	TMEM132A	11	60698068	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	42197696	60698068	74308448	26	8402											
TAS2R20	259295	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	11150095	11150096	+	Frame_Shift_Del	DEL	CT	CT	-																															acactatcaccagaactacaCtcttagccttcctttttaag																										TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	CT	CT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr12:11150095_11150096delCT	ENST00000538986.1	-	1	378_379	c.379_380delAG	c.(379-381)agtfs	p.S127fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	127					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						CAGAACTACACTCTTAGCCTTC	0.381																																					p.127_127del													.	TAS2R20	17		0			c.380_381del																																									SO:0001589	frameshift_variant	259295	exon1			ACTACACTCTTAG	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.379_380delAG	12.37:g.11150097_11150098delCT	ENSP00000441624:p.Ser127fs		119	0	0		214	0.14	30	NM_176889	1	0	0	P59549|Q2HIZ4|Q496D8|Q645X9	Frame_Shift_Del	DEL	ENST00000538986.1	37	CCDS8639.1																																																																																					0.381	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370130.2		NM_176889		-	11150096	CT	-	11150095	7	5	112	1	0	1	0	1	0	0	0	0	15594	565	20	0	553	0	TAS2R20	12	11150095	Frame_Shift_Del	DEL	CT	TCGA-XE-A9SE-01A-21D-A435-10		11150095	122701800	27	8403											
PRB4	5545	broad.mit.edu	37	chr12	11461592	11461592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggggtaccttgggactGgtttcctccttgtgggggtg	3	13	18	7	0	0	0	0	0	0	0	2	1	2	1	3	7	1	2	3	7	1	4	rs199532199		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr12:11461592G>T	ENST00000535904.1	-	3	358	c.325C>A	c.(325-327)Cag>Aag	p.Q109K	PRB4_ENST00000279575.1_Missense_Mutation_p.Q109K|PRB4_ENST00000445719.2_Missense_Mutation_p.Q109K			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	130	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CCTTGGGACTGGTTTCCTCCT	0.607										HNSCC(22;0.051)																											p.Q109K													.	PRB4	59		0			c.C325A												177	186	183					12																	11461592		2202	4299	6501	SO:0001583	missense	5545	exon3			GGGACTGGTTTCC		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.325C>A	12.37:g.11461592G>T	ENSP00000442834:p.Gln109Lys		151	0.0132450331	2		263	0.04	10	NM_001261399	0		0	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.660851	0.00107	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.06068	3.35;3.35;3.35	0.678	-1.36	0.09085	.	.	.	.	.	T	0.02455	0.0075	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.44375	-0.9332	8	0.17369	T	0.5	.	.	.	.	.	109	E9PAL0	.	K	109	ENSP00000279575:Q109K;ENSP00000442834:Q109K;ENSP00000412740:Q109K	ENSP00000279575:Q109K	Q	-	1	0	PRB4	11352859	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.408000	0.01042	-2.282000	0.00673	-1.086000	0.02197	CAG			0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000402308.1		NM_002723		T	11461592	G	T	11461592	3	4	112	1	0	0	0	0	1	0	0	0	12465	1357	47	3	422	3	PRB4	12	11461592	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	311497	11461592	122390303	28	8404											
GXYLT1	283464	broad.mit.edu;mdanderson.org	37	chr12	42491294	42491294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctggttgcttatcgtcatGgtaaacacctctgttcccat	7	15	8	11	1	2	0	1	0	1	0	4	0	3	0	2	2	3	5	2	2	3	4			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr12:42491294G>T	ENST00000398675.3	-	7	1343	c.1111C>A	c.(1111-1113)Cat>Aat	p.H371N	GXYLT1_ENST00000280876.6_Missense_Mutation_p.H340N	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	371					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TTATCGTCATGGTAAACACCT	0.348																																					p.H371N													.	GXYLT1	47		0			c.C1111A												123	117	119					12																	42491294		1871	4112	5983	SO:0001583	missense	283464	exon7			CGTCATGGTAAAC	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1111C>A	12.37:g.42491294G>T	ENSP00000381666:p.His371Asn		53	0	0		64	0.06	4	NM_173601	65	0	0	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604987	0.87157	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.21932	1.98;1.98	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	M	0.84326	2.69	0.80722	D	1	D;D	0.69078	0.995;0.997	D;P	0.66979	0.948;0.889	T	0.40794	-0.9544	10	0.31617	T	0.26	-16.834	20.1294	0.97995	0.0:0.0:1.0:0.0	.	340;371	Q4G148-2;Q4G148	.;GXLT1_HUMAN	N	371;340	ENSP00000381666:H371N;ENSP00000280876:H340N	ENSP00000280876:H340N	H	-	1	0	GXYLT1	40777561	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.773000	0.98989	2.758000	0.94735	0.591000	0.81541	CAT			0.348	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403778.1		XM_290597		T	42491294	G	T	42491294	3	4	112	1	0	0	0	0	1	0	0	0	6918	1348	47	3	219	3	GXYLT1	12	42491294	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	31029702	42491294	91360601	29	8405											
TUBA1A	7846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	49579631	49579631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaaacctggggcgccGggtaaatagagaactccagc	11	6	14	10	2	0	1	0	0	0	1	1	3	1	2	3	4	3	1	3	4	5	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr12:49579631G>C	ENST00000295766.5	-	4	997	c.518C>G	c.(517-519)cCg>cGg	p.P173R	TUBA1A_ENST00000301071.7_Missense_Mutation_p.P173R|TUBA1A_ENST00000546918.1_Missense_Mutation_p.R224G|TUBA1A_ENST00000550767.1_Missense_Mutation_p.P138R	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	173					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	CTGGGGCGCCGGGTAAATAGA	0.532																																					p.P173R	Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)												.	.			0			c.C518G												51	56	54					12																	49579631		2203	4300	6503	SO:0001583	missense	7846	exon4			GGCGCCGGGTAAA	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.518C>G	12.37:g.49579631G>C	ENSP00000439020:p.Pro173Arg		161	0	0		219	0.18	39	NM_001270399	2287	0.13	305	A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	CCDS58227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.479410|2.479410	0.44044|0.44044	.|.	.|.	ENSG00000167552|ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767;ENST00000547939|ENST00000546918	D;D;D;D|T	0.89746|0.65732	-2.56;-2.56;-2.56;-2.56|-0.17	5.25|5.25	5.25|5.25	0.73442|0.73442	Tubulin/FtsZ, GTPase domain (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.90407|0.90407	0.6997|0.6997	H|H	0.99975|0.99975	5.155|5.155	0.45216|0.45216	D|D	0.998226|0.998226	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.95362|0.95362	0.8456|0.8456	10|7	0.87932|0.87932	D|D	0|0	.|.	17.6261|17.6261	0.88095|0.88095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173|.	Q71U36|.	TBA1A_HUMAN|.	R|G	173;20;173;138;138|224	ENSP00000301071:P173R;ENSP00000439020:P173R;ENSP00000446637:P138R;ENSP00000450268:P138R|ENSP00000446613:R224G	ENSP00000439020:P173R|ENSP00000446613:R224G	P|R	-|-	2|1	0|2	TUBA1A|TUBA1A	47865898|47865898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.825000|0.825000	0.46686|0.46686	9.330000|9.330000	0.96422|0.96422	2.443000|2.443000	0.82685|0.82685	0.462000|0.462000	0.41574|0.41574	CCG|CGG			0.532	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000404547.2		NM_006009		C	49579631	G	C	49579631	3	2	112	1	0	0	0	0	1	0	0	0	16767	1116	39	5	841	5	TUBA1A	12	49579631	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	7088337	49579631	84272264	30	8406											
MMP19	4327	broad.mit.edu;bcgsc.ca	37	chr12	56231059	56231081	+	Frame_Shift_Del	DEL	AGGGCTGGTTTGGCACTCCCGTA	AGGGCTGGTTTGGCACTCCCGTA	-																															ttgccaactcatagcagccgAgggctggtttggcactcccg																										TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	AGGGCTGGTTTGGCACTCCCGTA	AGGGCTGGTTTGGCACTCCCGTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr12:56231059_56231081delAGGGCTGGTTTGGCACTCCCGTA	ENST00000322569.4	-	9	1357_1379	c.1266_1288delTACGGGAGTGCCAAACCAGCCCT	c.(1264-1290)tttacgggagtgccaaaccagccctcgfs	p.TGVPNQPS423fs	MMP19_ENST00000548629.1_Frame_Shift_Del_p.TGVPNQPS400fs|MMP19_ENST00000409200.3_3'UTR|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000394182.1_Frame_Shift_Del_p.TGVPNQPS137fs	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	423					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	ATAGCAGCCGAGGGCTGGTTTGGCACTCCCGTAAACAAACCCT	0.565																																					p.422_430del													.	MMP19	61		0			c.1266_1288del																																									SO:0001589	frameshift_variant	4327	exon9			CAGCCGAGGGCTG	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1266_1288delTACGGGAGTGCCAAACCAGCCCT	12.37:g.56231059_56231081delAGGGCTGGTTTGGCACTCCCGTA	ENSP00000313437:p.Thr423fs		118	0	0		165	0	0	NM_002429	11	0	0	B4E030|O15278|O95606|Q99580	Frame_Shift_Del	DEL	ENST00000322569.4	37	CCDS8895.1																																																																																					0.565	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408023.1		NM_002429		-	56231081	AGGGCTGGTTTGGCACTCCCGTA	-	56231059	7	5	112	1	0	1	0	1	0	0	0	0	9673	304	11	0	242	0	MMP19	12	56231059	Frame_Shift_Del	DEL	AGGGCTGGTTTGGCACTCCCGTA	TCGA-XE-A9SE-01A-21D-A435-10	6651428	56231059	77620836	31	8407											
GRIP1	23426	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	66838439	66838439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggagctgactggcttcttCgaaggtgctgtcttctgttg	5	14	14	8	1	3	1	0	1	3	0	4	4	3	2	0	3	2	4	0	3	1	4	rs369501964		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr12:66838439C>T	ENST00000398016.3	-	12	1524	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E538K|GRIP1_ENST00000359742.4_Missense_Mutation_p.E538K	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTGGCTTCTTCGAAGGTGCTG	0.458																																					p.E486K													.	GRIP1	106		0			c.G1456A												120	120	120					12																	66838439		1948	4143	6091	SO:0001583	missense	23426	exon12			CTTCTTCGAAGGT	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1456G>A	12.37:g.66838439C>T	ENSP00000381098:p.Glu486Lys		149	0.0067114094	1		194	0.16	32	NM_001178074	2	0.5	1	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318744	0.95682	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.61	5.61	0.85477	PDZ/DHR/GLGF (4);	0.105878	0.64402	D	0.000008	T	0.44117	0.1278	M	0.70903	2.155	0.80722	D	1	B;P;B;P	0.52061	0.394;0.521;0.146;0.95	P;B;B;P	0.47134	0.455;0.267;0.244;0.539	T	0.35325	-0.9793	9	.	.	.	-23.918	19.6387	0.95748	0.0:1.0:0.0:0.0	.	486;538;486;538	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	K	486;538;538;486;430;378	ENSP00000381098:E486K;ENSP00000352780:E538K;ENSP00000286445:E538K;ENSP00000446047:E486K;ENSP00000446024:E430K;ENSP00000446011:E378K	.	E	-	1	0	GRIP1	65124706	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	7.487000	0.81328	2.641000	0.89580	0.544000	0.68410	GAA			0.458	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401975.2				T	66838439	C	T	66838439	3	4	112	1	0	0	0	0	1	0	0	0	6802	893	31	1	1826	1	GRIP1	12	66838439	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	10607380	66838439	67013456	32	8408											
PLXNC1	10154	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr12	94542893	94542893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaagccatcggagccaTcgcggcgagccaggaggacg	10	2	17	12	5	0	0	0	0	0	0	2	5	0	4	3	5	4	1	3	5	1	0			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr12:94542893T>A	ENST00000258526.4	+	1	395	c.146T>A	c.(145-147)aTc>aAc	p.I49N		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	49	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						ATCGGAGCCATCGCGGCGAGC	0.721																																					p.I49N													.	.			0			c.T146A												12	14	13					12																	94542893		2143	4220	6363	SO:0001583	missense	10154	exon1			GAGCCATCGCGGC	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.146T>A	12.37:g.94542893T>A	ENSP00000258526:p.Ile49Asn		10	0	0		29	0.17	5	NM_005761	0		0	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316714	0.40996	.	.	ENSG00000136040	ENST00000258526	T	0.05649	3.41	4.48	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.179052	0.27871	N	0.017515	T	0.08714	0.0216	L	0.44542	1.39	0.80722	D	1	D	0.61697	0.99	P	0.46850	0.529	T	0.05517	-1.0880	10	0.87932	D	0	.	9.3135	0.37919	0.0:0.0:0.1811:0.8189	.	49	O60486	PLXC1_HUMAN	N	49	ENSP00000258526:I49N	ENSP00000258526:I49N	I	+	2	0	PLXNC1	93067024	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.274000	0.58921	1.643000	0.50594	0.374000	0.22700	ATC			0.721	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408126.2				A	94542893	T	A	94542893	3	1	112	1	0	0	0	0	1	0	0	0	12143	1435	50	5	148	5	PLXNC1	12	94542893	Missense_Mutation	SNP	T	TCGA-XE-A9SE-01A-21D-A435-10	27704454	94542893	39309002	33	8409											
SSH1	54434	broad.mit.edu	37	chr12	109181808	109181809	+	Frame_Shift_Ins	INS	-	-	G																															ctctttaagttttctggggcINSgggtttccctgatggtttgg																								rs575424530		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr12:109181808_109181809insG	ENST00000326495.5	-	15	3198_3199	c.3105_3106insC	c.(3103-3108)cccgccfs	p.A1036fs	SSH1_ENST00000360239.3_Frame_Shift_Ins_p.A724fs	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1036	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A1036T(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTCTGGGGCGGGTTTCCCTG	0.55																																					p.A1036fs													SSH1,NS,carcinoma,0,1	SSH1	144	1	1	Substitution - Missense(1)	endometrium(1)	c.3106_3107insC																																									SO:0001589	frameshift_variant	54434	exon15			CTGGGGCGGGTTT	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.3106dupC	12.37:g.109181811_109181811dupG	ENSP00000315713:p.Ala1036fs		107	0	0		156	0.03	4	NM_018984	26	0	0	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Frame_Shift_Ins	INS	ENST00000326495.5	37	CCDS9121.1																																																																																					0.55	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000403724.1		NM_018984		G	109181809	-	G	109181808	7	5	112	1	0	1	1	0	0	0	0	0	15207	768	27	0	47	0	SSH1	12	109181808	Frame_Shift_Ins	INS	-	TCGA-XE-A9SE-01A-21D-A435-10	14638915	109181808	24670087	34	8410											
IRS2	8660	mdanderson.org	37	chr13	110435299	110435299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcccccggggccggcggCggtggcggcggctgcagaga	4	3	20	14	6	0	1	0	0	0	1	1	2	1	1	3	8	2	3	3	8	0	0	rs538782363	byFrequency	TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr13:110435299C>T	ENST00000375856.3	-	1	3616	c.3102G>A	c.(3100-3102)ccG>ccA	p.P1034P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1034	Poly-Pro.				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)			gggccggcggcggtggcggcg	0.786																																					p.P1034P	Melanoma(100;613 2409 40847)												.	.			0			c.G3102A												1	2	1					13																	110435299		686	2116	2802	SO:0001819	synonymous_variant	8660	exon1			CGGCGGCGGTGGC	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.3102G>A	13.37:g.110435299C>T			19	0	0		14	0.14	2	NM_003749	0		0	Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	CCDS9510.1																																																																																					0.786	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045755.1		NM_003749		T	110435299	C	T	110435299	2	4	112	1	0	0	0	0	0	0	0	1	7856	755	27	1		1	IRS2	13	110435299	Silent	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10		110435299	4734579	35	8411											
DCUN1D2	55208	mdanderson.org	37	chr13	114138337	114138337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcacgccataaactggCggaccttgtccttctgagac	9	9	11	12	2	1	1	0	1	1	1	2	4	2	2	3	2	2	1	3	2	2	3			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr13:114138337C>T	ENST00000478244.1	-	2	320	c.38G>A	c.(37-39)cGc>cAc	p.R13H	DCUN1D2_ENST00000375399.2_Missense_Mutation_p.R13H|DCUN1D2_ENST00000460318.1_5'Flank|DCUN1D2_ENST00000332592.3_Intron	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	13	UBA-like.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CATAAACTGGCGGACCTTGTC	0.502																																					p.R13H													.	.			0			c.G38A												159	139	146					13																	114138337		2203	4300	6503	SO:0001583	missense	55208	exon2			AACTGGCGGACCT	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 17", "DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.38G>A	13.37:g.114138337C>T	ENSP00000417706:p.Arg13His		63	0	0		47	0.06	3	NM_001014283	9	0	0	Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497884	0.85069	.	.	ENSG00000150401	ENST00000478244;ENST00000375399	.	.	.	4.49	3.65	0.41850	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.75946	0.3919	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.77731	-0.2478	9	0.56958	D	0.05	.	13.8795	0.63674	0.1536:0.8464:0.0:0.0	.	13	Q6PH85	DCNL2_HUMAN	H	13	.	ENSP00000364548:R13H	R	-	2	0	DCUN1D2	113186338	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	1.980000	0.40618	0.878000	0.35920	0.655000	0.94253	CGC			0.502	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045938.4		NM_018185		T	114138337	C	T	114138337	3	4	112	1	0	0	0	0	1	0	0	0	4316	768	27	1	765	1	DCUN1D2	13	114138337	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	3703038	114138337	1031541	36	8412											
MAPKBP1	23005	mdanderson.org	37	chr15	42114276	42114276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtggattacagcagcaGctgcctttccagcccggagc	7	9	11	14	1	1	0	0	0	1	0	2	2	2	2	3	2	7	3	3	2	1	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr15:42114276G>T	ENST00000456763.2	+	26	3213	c.3017G>T	c.(3016-3018)aGc>aTc	p.S1006I	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.S839I|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S1000I|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.S1000I|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S883I	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1006										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)		TACAGCAGCAGCTGCCTTTCC	0.657																																					p.S1006I													.	.			0			c.G3017T												19	18	18					15																	42114276		2202	4300	6502	SO:0001583	missense	23005	exon26			GCAGCAGCTGCCT	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.3017G>T	15.37:g.42114276G>T	ENSP00000393099:p.Ser1006Ile		92	0	0		113	0.04	5	NM_001128608	26	0	0	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.076806	0.76415	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.54279	0.75;0.91;0.58;0.8;1.01	5.52	5.52	0.82312	.	0.129261	0.64402	D	0.000001	T	0.65471	0.2694	L	0.32530	0.975	0.36900	D	0.89034	P;D;D;D;D;D	0.89917	0.859;0.96;0.961;0.999;1.0;1.0	B;P;P;D;D;D	0.91635	0.414;0.684;0.708;0.996;0.997;0.999	T	0.71344	-0.4621	10	0.72032	D	0.01	-17.3851	19.4555	0.94886	0.0:0.0:1.0:0.0	.	839;883;839;1000;1006;1000	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	I	1000;883;839;1006;1000	ENSP00000397570:S1000I;ENSP00000221214:S883I;ENSP00000260357:S839I;ENSP00000393099:S1006I;ENSP00000426154:S1000I	ENSP00000221214:S883I	S	+	2	0	MAPKBP1	39901568	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.837000	0.75354	2.625000	0.88918	0.556000	0.70494	AGC			0.657	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000359745.1		NM_014994		T	42114276	G	T	42114276	3	4	112	1	0	0	0	0	1	0	0	0	9308	971	34	2	3115	2	MAPKBP1	15	42114276	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		42114276	60417116	37	8413											
RLBP1	6017	mdanderson.org	37	chr15	89761813	89761813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccttctgcaaggtgtggcGgggcagctggctgcacgggc	5	7	17	12	2	1	0	0	0	1	0	1	0	1	0	1	6	3	5	1	6	1	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr15:89761813G>T	ENST00000268125.5	-	4	563	c.124C>A	c.(124-126)Cgc>Agc	p.R42S		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	42					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	AAGGTGTGGCGGGGCAGCTGG	0.592																																					p.R42S													.	.			0			c.C124A												65	62	63					15																	89761813		2200	4299	6499	SO:0001583	missense	6017	exon4			TGTGGCGGGGCAG	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"retinaldehyde-binding protein 1"			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.124C>A	15.37:g.89761813G>T	ENSP00000268125:p.Arg42Ser		53	0	0		81	0.04	3	NM_000326	0		0	B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329637	0.41297	.	.	ENSG00000140522	ENST00000268125	T	0.78364	-1.17	5.95	5.0	0.66597	Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.947543	0.08931	N	0.872985	T	0.54447	0.1859	N	0.01048	-1.04	0.20975	N	0.999811	B	0.18013	0.025	B	0.15870	0.014	T	0.32981	-0.9886	10	0.25751	T	0.34	-0.4826	15.9801	0.80102	0.0:0.354:0.646:0.0	.	42	P12271	RLBP1_HUMAN	S	42	ENSP00000268125:R42S	ENSP00000268125:R42S	R	-	1	0	RLBP1	87562817	0.751000	0.28327	0.996000	0.52242	0.989000	0.77384	3.670000	0.54569	2.822000	0.97130	0.655000	0.94253	CGC			0.592	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421135.1		NM_000326		T	89761813	G	T	89761813	3	4	112	1	0	0	0	0	1	0	0	0	13411	1116	39	1	853	1	RLBP1	15	89761813	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	47647537	89761813	12769579	38	8414											
MEF2A	4205	mdanderson.org	37	chr15	100214645	100214645	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgtcacagttccagtGaccagccccaatgctttgtc	8	12	8	13	0	2	1	1	1	1	0	4	1	3	1	4	0	2	2	4	0	1	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr15:100214645G>T	ENST00000557785.1	+	6	787	c.438G>T	c.(436-438)gtG>gtT	p.V146V	MEF2A_ENST00000354410.5_Silent_p.V148V|MEF2A_ENST00000338042.6_Silent_p.V146V|MEF2A_ENST00000558812.1_Silent_p.V78V|MEF2A_ENST00000453228.2_Silent_p.V146V|MEF2A_ENST00000557942.1_Silent_p.V146V|MEF2A_ENST00000449277.2_Silent_p.V78V	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	148	Ser/Thr-rich.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|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)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CAGTTCCAGTGACCAGCCCCA	0.453																																					p.V148V													.	.			0			c.G444T												198	187	191					15																	100214645		1906	4136	6042	SO:0001819	synonymous_variant	4205	exon6			TCCAGTGACCAGC		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.438G>T	15.37:g.100214645G>T			124	0	0		131	0.04	5	NM_005587	52	0	0	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Silent	SNP	ENST00000557785.1	37	CCDS53978.1																																																																																					0.453	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415985.1				T	100214645	G	T	100214645	2	4	112	1	0	0	0	0	0	0	0	1	9471	1277	45	3		3	MEF2A	15	100214645	Silent	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	10452832	100214645	2316747	39	8415											
MSLN	10232	mdanderson.org	37	chr16	815590	815590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgctgcccgtgctgggCcagcccatcatccgcagcat	5	7	12	17	2	1	0	1	0	0	0	2	0	2	0	5	2	5	4	5	2	0	0			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr16:815590C>T	ENST00000382862.3	+	9	863	c.768C>T	c.(766-768)ggC>ggT	p.G256G	MSLN_ENST00000563941.1_Silent_p.G256G|MSLN_ENST00000566549.1_Silent_p.G256G|MSLN_ENST00000545450.2_Silent_p.G256G	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	256					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCGTGCTGGGCCAGCCCATCA	0.701																																					p.G256G													.	.			0			c.C768T												32	33	32					16																	815590		2175	4286	6461	SO:0001819	synonymous_variant	10232	exon10			GCTGGGCCAGCCC	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.768C>T	16.37:g.815590C>T			27	0	0		39	0.08	3	NM_005823	0		0	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	CCDS32356.1																																																																																					0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000109253.2				T	815590	C	T	815590	2	4	112	1	0	0	0	0	0	0	0	1	9897	726	26	2		2	MSLN	16	815590	Silent	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10		815590	89539163	40	8416											
CDH5	1003	broad.mit.edu	37	chr16	66437043	66437044	+	Frame_Shift_Ins	INS	-	-	C																															gctggctgagctgtacggctINScggacccccgggaggagctg																										TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr16:66437043_66437044insC	ENST00000341529.3	+	12	2474_2475	c.2326_2327insC	c.(2326-2328)tcgfs	p.S776fs	CDH5_ENST00000539168.1_Frame_Shift_Ins_p.S215fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	776					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GCTGTACGGCTCGGACCCCCGG	0.639																																					p.S776fs													.	CDH5	111		0			c.2326_2327insC																																									SO:0001589	frameshift_variant	1003	exon12			TACGGCTCGGACC	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2327dupC	16.37:g.66437044_66437044dupC	ENSP00000344115:p.Ser776fs		150	0	0		146	0.05	7	NM_001795	34	0	0	Q4VAI5|Q4VAI6	Frame_Shift_Ins	INS	ENST00000341529.3	37	CCDS10804.1																																																																																					0.639	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268767.1		NM_001795		C	66437044	-	C	66437043	7	5	112	1	0	1	1	0	0	0	0	0	3115	1551	54	0	2368	0	CDH5	16	66437043	Frame_Shift_Ins	INS	-	TCGA-XE-A9SE-01A-21D-A435-10	65621453	66437043	23917710	41	8417											
SPATA2L	124044	mdanderson.org	37	chr16	89763952	89763952	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacaggcagctgtgtgcctgGtagcctgggggctccgagac	6	7	17	11	1	0	1	0	0	0	1	1	3	1	1	3	4	3	4	3	4	1	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr16:89763952G>T	ENST00000289805.5	-	3	1133	c.1065C>A	c.(1063-1065)taC>taA	p.Y355*	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	355										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGTGTGCCTGGTAGCCTGGGG	0.692																																					p.Y355X													.	.			0			c.C1065A												25	30	28					16																	89763952		2198	4299	6497	SO:0001587	stop_gained	124044	exon3			TGCCTGGTAGCCT	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 76"	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.1065C>A	16.37:g.89763952G>T	ENSP00000289805:p.Tyr355*		18	0	0		18	0.11	2	NM_152339	10	0	0	D3DX85|Q8NHV3	Nonsense_Mutation	SNP	ENST00000289805.5	37	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963250	0.92791	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.43	4.43	0.53597	.	0.594469	0.16183	N	0.225732	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9534	0.64133	0.0:0.0:1.0:0.0	.	.	.	.	X	355	.	ENSP00000289805:Y355X	Y	-	3	2	SPATA2L	88291453	1.000000	0.71417	0.951000	0.38953	0.775000	0.43874	3.865000	0.56033	2.020000	0.59435	0.462000	0.41574	TAC			0.692	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269923.1		NM_152339		T	89763952	G	T	89763952	4	4	112	1	0	0	0	0	0	1	0	0	15032	1256	44	3	213	3	SPATA2L	16	89763952	Nonsense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	23326909	89763952	590801	42	8418											
MPO	4353	mdanderson.org	37	chr17	56355261	56355261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcaggttgtcaaagggCagcagggcccggccgttgtc	6	8	16	11	3	1	0	1	0	0	0	3	0	1	0	2	4	2	5	2	4	1	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr17:56355261C>T	ENST00000225275.3	-	7	1307	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	MPO_ENST00000340482.3_Silent_p.L409L|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	377					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)	TGTCAAAGGGCAGCAGGGCCC	0.657																																					p.L377L													.	.			0			c.G1131A												66	66	66					17																	56355261		2203	4300	6503	SO:0001819	synonymous_variant	4353	exon7			AAAGGGCAGCAGG		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.1131G>A	17.37:g.56355261C>T			23	0	0		29	0.1	3	NM_000250	2	0	0	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	CCDS11604.1																																																																																					0.657	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443971.1				T	56355261	C	T	56355261	2	4	112	1	0	0	0	0	0	0	0	1	9748	697	25	2		2	MPO	17	56355261	Silent	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10		56355261	24839949	43	8419											
AXIN2	8313	mdanderson.org	37	chr17	63554672	63554672	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctggcactgggggccGcggggcatcctcacggaagc	5	6	15	15	3	1	0	1	0	0	0	3	1	3	1	4	6	1	2	4	6	1	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr17:63554672G>T	ENST00000375702.5	-	1	175	c.67C>A	c.(67-69)Cgg>Agg	p.R23R	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Silent_p.R23R			Q9Y2T1	AXIN2_HUMAN	axin 2	23					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						ACTGGGGGCCGCGGGGCATCC	0.632									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																												p.R23R													AXIN2,NS,carcinoma,0,1	AXIN2	0	1	0			c.C67A												31	35	33					17																	63554672		2202	4298	6500	SO:0001819	synonymous_variant	8313	exon2	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	GGGGCCGCGGGGC	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.67C>A	17.37:g.63554672G>T			31	0	0		38	0.08	3	NM_004655	22	0	0	Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37																																																																																						0.632	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000445901.1		NM_004655		T	63554672	G	T	63554672	2	4	112	1	0	0	0	0	0	0	0	1	1237	1086	38	1		1	AXIN2	17	63554672	Silent	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	7199411	63554672	17640538	44	8420											
UNK	85451	mdanderson.org	37	chr17	73812897	73812897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttcctcagctgtgtccagCcccacccagccaggtcctgt	5	9	8	19	0	1	0	1	0	0	0	4	0	4	0	8	1	3	1	8	1	0	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr17:73812897C>T	ENST00000589666.1	+	8	1118	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	UNK_ENST00000293218.3_Silent_p.S412S|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	336							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTGTCCAGCCCCACCCAGC	0.667																																					p.S336S													.	.			0			c.C1008T												32	39	37					17																	73812897		2173	4252	6425	SO:0001819	synonymous_variant	85451	exon8			GTCCAGCCCCACC	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1008C>T	17.37:g.73812897C>T			23	0	0		17	0.12	2	NM_001080419	15	0	0		Silent	SNP	ENST00000589666.1	37	CCDS45778.2																																																																																					0.667	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448835.1		NM_001080419		T	73812897	C	T	73812897	2	4	112	1	0	0	0	0	0	0	0	1	17024	738	26	2		2	UNK	17	73812897	Silent	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	10258225	73812897	7382313	45	8421											
EVPL	2125	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	74003793	74003794	+	Frame_Shift_Del	DEL	AT	AT	-																															ttgttgtctgtggttgtgtcAtagatcccggcgatagggaa																										TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	AT	AT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr17:74003793_74003794delAT	ENST00000301607.3	-	22	5745_5746	c.5492_5493delAT	c.(5491-5493)tatfs	p.Y1831fs	EVPL_ENST00000586740.1_Frame_Shift_Del_p.Y1853fs|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1831	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)	p.Y1831C(1)		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						TGGTTGTGTCATAGATCCCGGC	0.614																																					p.1831_1832del													EVPL,NS,malignant_melanoma,0,1	EVPL	155		1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.5493_5494del																																									SO:0001589	frameshift_variant	2125	exon22			TGTGTCATAGATC	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.5492_5493delAT	17.37:g.74003793_74003794delAT	ENSP00000301607:p.Tyr1831fs		75	0	0		49	0.31	15	NM_001988	2	0	0	A0AUV5	Frame_Shift_Del	DEL	ENST00000301607.3	37	CCDS11737.1																																																																																					0.614	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449483.1		NM_001988		-	74003794	AT	-	74003793	7	5	112	1	0	1	0	1	0	0	0	0	5299	224	8	0	612	0	EVPL	17	74003793	Frame_Shift_Del	DEL	AT	TCGA-XE-A9SE-01A-21D-A435-10	190896	74003793	7191417	46	8422											
TNRC6C	57690	mdanderson.org	37	chr17	76046266	76046266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagccagaaccctaccGtacagcctggtggtgaacac	11	6	9	15	1	1	2	1	1	0	1	1	2	1	2	5	2	6	1	5	2	4	2	rs202206566		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr17:76046266G>A	ENST00000588061.1	+	5	1850	c.1123G>A	c.(1123-1125)Gta>Ata	p.V375I	TNRC6C_ENST00000335749.4_Missense_Mutation_p.V375I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V375I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V375I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V375I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V375I			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	375	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V375I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAACCCTACCGTACAGCCTGG	0.522																																					p.V375I													TNRC6C,rectum,carcinoma,0,1	TNRC6C	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.G1123A												59	59	59					17																	76046266		1988	4154	6142	SO:0001583	missense	57690	exon4			CCTACCGTACAGC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1123G>A	17.37:g.76046266G>A	ENSP00000468647:p.Val375Ile		31	0	0		16	0.19	3	NM_018996	15	0	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	9.211	1.030999	0.19590	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.12	-9.34	0.00636	.	1.100860	0.07055	N	0.832741	T	0.05227	0.0139	N	0.14661	0.345	0.19300	N	0.999977	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.0	T	0.35525	-0.9785	10	0.21014	T	0.42	1.9699	4.9047	0.13793	0.5787:0.2184:0.0926:0.1103	.	375;375;375	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	I	375	ENSP00000336783:V375I;ENSP00000301624:V375I;ENSP00000440310:V375I;ENSP00000442421:V375I	ENSP00000301624:V375I	V	+	1	0	TNRC6C	73557861	0.376000	0.25098	0.244000	0.24202	0.880000	0.50808	-0.586000	0.05787	-1.757000	0.01316	0.655000	0.94253	GTA			0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000395947.1		NM_018996		A	76046266	G	A	76046266	3	1	112	1	0	0	0	0	1	0	0	0	16365	1145	40	1	1125	1	TNRC6C	17	76046266	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	2042473	76046266	5148944	47	8423											
PDE6G	5148	mdanderson.org	37	chr17	79620321	79620321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccggaactcagccttgggCggttccaggttcatggtgag	7	9	15	10	2	2	1	2	1	0	0	3	3	3	2	3	5	2	2	3	5	1	3	rs370812916		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr17:79620321C>T	ENST00000331056.5	-	2	158	c.15G>A	c.(13-15)ccG>ccA	p.P5P	PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Silent_p.P5P|PDE6G_ENST00000571004.1_Silent_p.P5P|PDE6G_ENST00000573076.1_Silent_p.P55P	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	5					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	CAGCCTTGGGCGGTTCCAGGT	0.657																																					p.P5P	GBM(189;38 2147 16440 40945 46567)												.	.			0			c.G15A									0,4406		0,0,2203	37	40	39		15	-11.1	0.3	17		39	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PDE6G	NM_002602.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		5/88	79620321	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5148	exon2			CTTGGGCGGTTCC		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"Phosphodiesterases"	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545		ENST00000331056.5:c.15G>A	17.37:g.79620321C>T			24	0	0		31	0.1	3	NM_002602	15	0	0	Q3KP63|Q7Z3U8	Silent	SNP	ENST00000331056.5	37	CCDS11783.1																																																																																					0.657	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440314.1				T	79620321	C	T	79620321	2	4	112	1	0	0	0	0	0	0	0	1	11666	755	27	1		1	PDE6G	17	79620321	Silent	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	3574055	79620321	1574889	48	8424											
C18orf1	753	mdanderson.org	37	chr18	13387732	13387732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcagtatgccggaagCtggttttcaggccacaaatg	10	8	15	8	1	1	0	1	0	0	0	1	2	1	2	2	5	3	4	2	5	3	3	rs530289864		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr18:13387732C>G	ENST00000359446.5	+	2	479	c.11C>G	c.(10-12)gCt>gGt	p.A4G	LDLRAD4_ENST00000361205.4_Missense_Mutation_p.A4G|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.A4G	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	4					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										ATGCCGGAAGCTGGTTTTCAG	0.582																																					p.A4G													.	.			0			c.C11G												146	125	132					18																	13387732		2203	4300	6503	SO:0001583	missense	753	exon3			CGGAAGCTGGTTT	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.11C>G	18.37:g.13387732C>G	ENSP00000352420:p.Ala4Gly		38	0	0		27	0.11	3	NM_181482	2	0	0	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536289	0.65085	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	T;T	0.29142	1.58;1.59	4.93	4.05	0.47172	.	0.397421	0.22381	N	0.060810	T	0.40498	0.1119	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.978	T	0.41413	-0.9510	10	0.87932	D	0	0.1279	14.523	0.67867	0.1479:0.852:0.0:0.0	.	4;4	O15165-2;O15165	.;CR001_HUMAN	G	4	ENSP00000354753:A4G;ENSP00000382741:A4G	ENSP00000354753:A4G	A	+	2	0	C18orf1	13377732	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	4.077000	0.57598	1.065000	0.40693	-0.282000	0.10007	GCT			0.582	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000458326.1		NM_181481		G	13387732	C	G	13387732	3	3	112	1	0	0	0	0	1	0	0	0	1896	797	28	5	13	5	C18orf1	18	13387732	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10		13387732	64689516	49	8425											
REXO1	57455	broad.mit.edu	37	chr19	1827048	1827048	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaTggggcgggggaggggggcgg	8	1	30	2	2	0	0	0	0	0	0	0	8	0	7	0	14	0	0	0	14	0	0			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr19:1827048T>G	ENST00000170168.4	-	2	1834	c.1740A>C	c.(1738-1740)ccA>ccC	p.P580P	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA|REXO1_ENST00000587524.1_5'Flank	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	580	Ser-rich.					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)		aggaggaggatggggcggggg	0.706																																					p.P580P													.	REXO1	55		0			c.A1740C												3	2	2					19																	1827048		1731	3439	5170	SO:0001819	synonymous_variant	57455	exon2			GGAGGATGGGGCG	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.1740A>C	19.37:g.1827048T>G			54	0.1481481481	8		84	0.25	21	NM_020695	12	0	0	Q9ULT2	Silent	SNP	ENST00000170168.4	37	CCDS32866.1																																																																																					0.706	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449200.1		NM_020695		G	1827048	T	G	1827048	2	3	112	1	0	0	0	0	0	0	0	1	13264	1451	51	4		4	REXO1	19	1827048	Silent	SNP	T	TCGA-XE-A9SE-01A-21D-A435-10		1827048	57301935	50	8426											
DPP9	91039	mdanderson.org	37	chr19	4688811	4688811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagcggggctgcttgtGcagggggtcgtcgtcggggc	4	7	20	10	4	0	1	0	0	0	1	3	1	0	1	1	6	3	3	1	6	1	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr19:4688811G>T	ENST00000598800.1	-	17	2261	c.1756C>A	c.(1756-1758)Cac>Aac	p.H586N	DPP9_ENST00000262960.9_Missense_Mutation_p.H615N|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Missense_Mutation_p.H586N			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	586						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCTGCTTGTGCAGGGGGTCG	0.677																																					p.H615N													.	.			0			c.C1843A												18	23	21					19																	4688811		2058	4183	6241	SO:0001583	missense	91039	exon16			GCTTGTGCAGGGG	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1756C>A	19.37:g.4688811G>T	ENSP00000469603:p.His586Asn		38	0	0		50	0.06	3	NM_139159	67	0	0	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37		.	.	.	.	.	.	.	.	.	.	G	13.92	2.380141	0.42207	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.29397	1.57	4.89	3.85	0.44370	.	0.054480	0.64402	D	0.000001	T	0.23766	0.0575	L	0.44542	1.39	0.51233	D	0.999912	B	0.16396	0.017	B	0.16289	0.015	T	0.05162	-1.0902	10	0.27785	T	0.31	-38.0985	9.0298	0.36252	0.1673:0.0:0.8327:0.0	.	615	Q1ZZB8	.	N	694;556;615	ENSP00000262960:H615N	ENSP00000262960:H615N	H	-	1	0	DPP9	4639811	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.756000	0.85195	1.306000	0.44926	0.549000	0.68633	CAC			0.677	DPP9-026	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000459343.2				T	4688811	G	T	4688811	3	4	112	1	0	0	0	0	1	0	0	0	4738	1319	46	2	863	2	DPP9	19	4688811	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	2861763	4688811	54440172	51	8427											
UPF1	5976	mdanderson.org	37	chr19	18971766	18971766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagtacatgcagttcagcgGctccctgcacaccaagctct	9	8	9	15	1	2	0	1	0	1	0	3	0	3	0	2	1	5	7	2	1	2	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr19:18971766G>A	ENST00000599848.1	+	17	2674	c.2465G>A	c.(2464-2466)gGc>gAc	p.G822D	UPF1_ENST00000262803.5_Missense_Mutation_p.G811D			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	822					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						CAGTTCAGCGGCTCCCTGCAC	0.607																																					p.G811D													.	.			0			c.G2432A												63	39	47					19																	18971766		2192	4298	6490	SO:0001583	missense	5976	exon17			TCAGCGGCTCCCT	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.2465G>A	19.37:g.18971766G>A	ENSP00000470142:p.Gly822Asp		42	0	0		50	0.06	3	NM_002911	111	0	0	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	G	26.5	4.747520	0.89663	.	.	ENSG00000005007	ENST00000262803	D	0.91894	-2.93	4.73	4.73	0.59995	.	0.106321	0.64402	D	0.000004	D	0.95736	0.8613	M	0.82630	2.6	0.80722	D	1	B;D	0.67145	0.375;0.996	P;D	0.66084	0.632;0.941	D	0.96375	0.9277	10	0.87932	D	0	-36.0934	14.8621	0.70389	0.0:0.0:1.0:0.0	.	822;811	Q92900;Q92900-2	RENT1_HUMAN;.	D	811	ENSP00000262803:G811D	ENSP00000262803:G811D	G	+	2	0	UPF1	18832766	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.425000	0.97467	2.166000	0.68216	0.561000	0.74099	GGC			0.607	UPF1-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000464684.1		NM_002911		A	18971766	G	A	18971766	3	1	112	1	0	0	0	0	1	0	0	0	17027	1203	42	2	2498	2	UPF1	19	18971766	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	14282955	18971766	40157217	52	8428											
GRIN2D	2906	mdanderson.org	37	chr19	48945587	48945587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgtactggcgcctgcGgcactgcctggggcccaccc	3	7	14	17	2	0	0	0	0	0	0	0	0	0	0	5	5	3	2	5	5	1	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr19:48945587G>T	ENST00000263269.3	+	12	2709	c.2621G>T	c.(2620-2622)cGg>cTg	p.R874L		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	874					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)	TGGCGCCTGCGGCACTGCCTG	0.672																																					p.R874L													.	.			0			c.G2621T												79	82	81					19																	48945587		2203	4300	6503	SO:0001583	missense	2906	exon12			GCCTGCGGCACTG	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.2621G>T	19.37:g.48945587G>T	ENSP00000263269:p.Arg874Leu		34	0	0		56	0.05	3	NM_000836	3	0	0		Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.184931	0.78677	.	.	ENSG00000105464	ENST00000263269	T	0.39056	1.1	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	T	0.55065	0.1897	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.65010	0.931	T	0.60677	-0.7216	10	0.87932	D	0	.	15.1404	0.72607	0.0:0.0:1.0:0.0	.	874	O15399	NMDE4_HUMAN	L	874	ENSP00000263269:R874L	ENSP00000263269:R874L	R	+	2	0	GRIN2D	53637399	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	9.443000	0.97568	2.161000	0.67846	0.450000	0.29827	CGG			0.672	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466121.1				T	48945587	G	T	48945587	3	4	112	1	0	0	0	0	1	0	0	0	6797	1116	39	1	2663	1	GRIN2D	19	48945587	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	29973821	48945587	10183396	53	8429											
DHDH	27294	mdanderson.org	37	chr19	49438276	49438276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggcggtggcggcccGcgatctgagccgtgcgaagg	4	6	21	10	6	1	1	0	1	1	0	1	3	1	1	2	7	2	0	2	7	1	0			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr19:49438276G>T	ENST00000221403.2	+	2	150	c.110G>T	c.(109-111)cGc>cTc	p.R37L	DHDH_ENST00000522614.1_Missense_Mutation_p.R37L|DHDH_ENST00000523250.1_Missense_Mutation_p.R37L	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	37					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		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;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GTGGCGGCCCGCGATCTGAGC	0.632																																					p.R37L													DHDH,right_lower_lobe,carcinoma,0,1	DHDH	0	1	0			c.G110T												24	20	22					19																	49438276		2196	4289	6485	SO:0001583	missense	27294	exon2			CGGCCCGCGATCT	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.110G>T	19.37:g.49438276G>T	ENSP00000221403:p.Arg37Leu		36	0	0		21	0.1	2	NM_014475	8	0	0		Missense_Mutation	SNP	ENST00000221403.2	37	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872975	0.51695	.	.	ENSG00000104808	ENST00000221403;ENST00000523250;ENST00000522614	T;T;T	0.25579	1.79;1.79;1.79	4.99	3.92	0.45320	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.054693	0.64402	D	0.000002	T	0.61135	0.2323	H	0.96691	3.865	0.48975	D	0.999737	D	0.69078	0.997	D	0.69479	0.964	T	0.72443	-0.4292	10	0.87932	D	0	-22.8341	10.6847	0.45835	0.0981:0.0:0.9019:0.0	.	37	Q9UQ10	DHDH_HUMAN	L	37	ENSP00000221403:R37L;ENSP00000428935:R37L;ENSP00000428672:R37L	ENSP00000221403:R37L	R	+	2	0	DHDH	54130088	1.000000	0.71417	0.546000	0.28166	0.009000	0.06853	8.351000	0.90072	1.398000	0.46701	0.563000	0.77884	CGC			0.632	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381477.1		NM_014475		T	49438276	G	T	49438276	3	4	112	1	0	0	0	0	1	0	0	0	4484	1087	38	1	116	1	DHDH	19	49438276	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	492689	49438276	9690707	54	8430											
ATRN	8455	broad.mit.edu	37	chr20	3451967	3451969	+	In_Frame_Del	DEL	GCT	GCT	-																															ctgttgttgctctcgccgccGctgctgctgctgctgctgcc																										TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr20:3451967_3451969delGCT	ENST00000262919.5	+	1	281_283	c.213_215delGCT	c.(211-216)ccgctg>ccg	p.L77del	ATRN_ENST00000446916.2_In_Frame_Del_p.L77del	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	77	Leu-rich.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						tctcgccgccgctgctgctgctg	0.764																																					p.71_72del													.	ATRN	118		0			c.213_215del								,,	17,913		5,7,453					,,	-0.9	0			1	76,1972		27,22,975	no	coding,coding,intron	ATRN	NM_139322.2,NM_139321.2,NM_001207047.1	,,	32,29,1428	A1A1,A1R,RR		3.7109,1.828,3.1229	,,	,,		93,2885				SO:0001651	inframe_deletion	8455	exon1			GCCGCCGCTGCTG	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.213_215delGCT	20.37:g.3451976_3451978delGCT	ENSP00000262919:p.Leu77del		8	0	0		9	0.33	3	NM_139321	1	0	0	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	In_Frame_Del	DEL	ENST00000262919.5	37	CCDS13053.1																																																																																					0.764	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000077740.2		NM_139321		-	3451969	GCT	-	3451967	7	5	112	1	0	1	0	1	0	0	0	0	1206	1074	38	0	215	0	ATRN	20	3451967	In_Frame_Del	DEL	GCT	TCGA-XE-A9SE-01A-21D-A435-10		3451967	59573553	55	8431											
GZF1	64412	mdanderson.org	37	chr20	23346327	23346327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacgggagaccggccctacgGctgcaccgagtgcggcgcca	7	3	15	16	6	0	1	0	0	0	1	0	3	0	1	4	4	3	2	4	4	1	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr20:23346327G>T	ENST00000338121.5	+	2	1384	c.1307G>T	c.(1306-1308)gGc>gTc	p.G436V	GZF1_ENST00000377051.2_Missense_Mutation_p.G436V|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	436					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)					CGGCCCTACGGCTGCACCGAG	0.721																																					p.G436V													.	.			0			c.G1307T												16	18	18					20																	23346327		2183	4255	6438	SO:0001583	missense	64412	exon1			CCTACGGCTGCAC	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.1307G>T	20.37:g.23346327G>T	ENSP00000338290:p.Gly436Val		8	0	0		13	0.15	2	NM_022482	12	0.08	1	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	7.356	0.623827	0.14193	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.16597	2.33;2.33	4.58	2.54	0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.276633	0.30437	N	0.009626	T	0.04318	0.0119	N	0.00275	-1.725	0.80722	D	1	B	0.33477	0.413	B	0.36186	0.219	T	0.40869	-0.9540	10	0.36615	T	0.2	.	9.4239	0.38567	0.0812:0.1434:0.7754:0.0	.	436	Q9H116	GZF1_HUMAN	V	436	ENSP00000338290:G436V;ENSP00000366250:G436V	ENSP00000338290:G436V	G	+	2	0	GZF1	23294327	1.000000	0.71417	0.873000	0.34254	0.002000	0.02628	3.686000	0.54685	1.138000	0.42230	-0.182000	0.12963	GGC			0.721	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078333.1		NM_022482		T	23346327	G	T	23346327	3	4	112	1	0	0	0	0	1	0	0	0	6929	1203	42	2	1309	2	GZF1	20	23346327	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	19894360	23346327	39679193	56	8432											
L3MBTL	26013	mdanderson.org	37	chr20	42159018	42159018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgacattcaccctgctgGctggttcgagaagacgggcc	7	8	12	14	2	1	3	1	1	0	2	2	4	1	3	3	3	1	3	3	3	1	2			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr20:42159018G>A	ENST00000427442.2	+	10	1244	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	L3MBTL1_ENST00000444063.1_Missense_Mutation_p.G294D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G294D|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G294D|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.G362D			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	294					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CACCCTGCTGGCTGGTTCGAG	0.567																																					p.G362D													.	.			0			c.G1085A												117	105	109					20																	42159018		2203	4300	6503	SO:0001583	missense	26013	exon10			CTGCTGGCTGGTT	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1085G>A	20.37:g.42159018G>A	ENSP00000402107:p.Gly362Asp		98	0	0		114	0.04	5	NM_032107	6	0	0	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	CCDS46602.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265361|5.265361	0.95399|0.95399	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861|ENST00000445228	D;D;D;D;D;D|.	0.82081|.	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88269|.	0.6391|.	H|H	0.96489|0.96489	3.83|3.83	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|.	0.91376|.	0.5123|.	10|.	0.87932|.	D|.	0|.	.|.	18.7926|18.7926	0.91980|0.91980	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	362;294;294|.	Q9Y468-5;Q9Y468-2;Q9Y468-1|.	.;.;.|.	D|X	362;362;294;294;294;80|15	ENSP00000402107:G362D;ENSP00000398516:G362D;ENSP00000362227:G294D;ENSP00000403316:G294D;ENSP00000362226:G294D;ENSP00000410139:G80D|.	ENSP00000362226:G294D|.	G|W	+|+	2|3	0|0	L3MBTL1|L3MBTL1	41592432|41592432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.810000|9.810000	0.99221|0.99221	2.735000|2.735000	0.93741|0.93741	0.561000|0.561000	0.74099|0.74099	GGC|TGG			0.567	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079300.3		NM_032107		A	42159018	G	A	42159018	3	1	112	1	0	0	0	0	1	0	0	0	8606	1203	42	2	907	2	L3MBTL	20	42159018	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	18812691	42159018	20866502	57	8433											
KRTAP10-6	386674	mdanderson.org	37	chr21	46011801	46011801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctgggctcacagaccgCctggcagcaggggctggaca	7	4	18	12	1	1	1	1	0	0	1	1	2	1	2	2	7	1	5	2	7	0	0			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr21:46011801C>A	ENST00000400368.1	-	1	585	c.565G>T	c.(565-567)Gcg>Tcg	p.A189S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	189	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						TCACAGACCGCCTGGCAGCAG	0.637																																					p.A189S													.	.			0			c.G565T												44	61	55					21																	46011801		2199	4296	6495	SO:0001583	missense	386674	exon1			AGACCGCCTGGCA	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.565G>T	21.37:g.46011801C>A	ENSP00000383219:p.Ala189Ser		142	0	0		153	0.03	5	NM_198688	0		0		Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	-	0.342	-0.949829	0.02285	.	.	ENSG00000188155	ENST00000400368	T	0.00768	5.72	2.89	-5.78	0.02362	.	.	.	.	.	T	0.00440	0.0014	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44937	-0.9295	9	0.05833	T	0.94	.	7.1885	0.25813	0.5581:0.1634:0.2785:0.0	.	189	P60371	KR106_HUMAN	S	189	ENSP00000383219:A189S	ENSP00000383219:A189S	A	-	1	0	KRTAP10-6	44836229	.	.	0.000000	0.03702	0.018000	0.09664	.	.	-1.826000	0.01205	0.194000	0.17425	GCG			0.637	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128037.1		NM_198688		A	46011801	C	A	46011801	3	1	112	1	0	0	0	0	1	0	0	0	8528	739	26	2	536	2	KRTAP10-6	21	46011801	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10		46011801	2118094	58	8434											
ZDHHC8	29801	mdanderson.org	37	chr22	20131012	20131012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcttcggtggcgcccGcaaccctgccctgcagacgt	4	6	13	18	5	0	1	0	0	0	1	1	1	0	1	4	3	3	3	4	3	1	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr22:20131012G>T	ENST00000334554.7	+	10	2000	c.1859G>T	c.(1858-1860)cGc>cTc	p.R620L	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R620L|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R528L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	620					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGTGGCGCCCGCAACCCTGCC	0.706																																					p.R620L													.	.			0			c.G1859T												24	24	24					22																	20131012		2185	4292	6477	SO:0001583	missense	29801	exon10			GCGCCCGCAACCC	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1859G>T	22.37:g.20131012G>T	ENSP00000334490:p.Arg620Leu		16	0	0		21	0.1	2	NM_013373	16	0	0	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	15.87	2.959318	0.53400	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.77358	0.97;-1.09;0.84	4.71	3.69	0.42338	.	0.405503	0.23249	N	0.050265	D	0.85362	0.5679	M	0.61703	1.905	0.58432	D	0.999998	P;D;D	0.89917	0.921;1.0;1.0	D;D;D	0.85130	0.939;0.976;0.997	D	0.86048	0.1524	10	0.87932	D	0	.	12.7849	0.57498	0.08:0.0:0.92:0.0	.	528;620;620	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	L	620;528;620	ENSP00000334490:R620L;ENSP00000317804:R528L;ENSP00000384716:R620L	ENSP00000317804:R528L	R	+	2	0	ZDHHC8	18511012	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	9.049000	0.93837	0.986000	0.38683	-0.373000	0.07131	CGC			0.706	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318564.1		NM_013373		T	20131012	G	T	20131012	3	4	112	1	0	0	0	0	1	0	0	0	17644	1087	38	1	1897	1	ZDHHC8	22	20131012	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		20131012	31173554	59	8435											
LZTR1	8216	mdanderson.org	37	chr22	21348866	21348866	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgtggaggatgtgctGctcatcatggatgtgtacaa	9	11	14	7	0	2	0	2	0	0	0	2	3	2	3	1	4	3	3	1	4	2	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr22:21348866G>T	ENST00000215739.8	+	15	1994	c.1635G>T	c.(1633-1635)ctG>ctT	p.L545L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.L526L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	545					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)			AGGATGTGCTGCTCATCATGG	0.647																																					p.L545L													.	.			0			c.G1635T												82	65	70					22																	21348866		2202	4300	6502	SO:0001819	synonymous_variant	8216	exon15			TGTGCTGCTCATC	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.1635G>T	22.37:g.21348866G>T			30	0	0		36	0.08	3	NM_006767	20	0	0	Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	CCDS33606.1																																																																																					0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320387.1		NM_006767		T	21348866	G	T	21348866	2	4	112	1	0	0	0	0	0	0	0	1	9153	1306	46	2		2	LZTR1	22	21348866	Silent	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	1217854	21348866	29955700	60	8436											
CELSR1	9620	mdanderson.org	37	chr22	46768935	46768935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgtagtggaggaggatgGcaaccactgtgcacagaaac	14	6	14	7	0	0	2	0	0	0	2	0	5	0	5	1	4	3	3	1	4	3	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chr22:46768935G>T	ENST00000262738.3	-	25	7603	c.7604C>A	c.(7603-7605)gCc>gAc	p.A2535D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2535					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGGAGGATGGCAACCACTGT	0.617																																					p.A2535D													.	.			0			c.C7604A												98	68	78					22																	46768935		2200	4298	6498	SO:0001583	missense	9620	exon25			AGGATGGCAACCA	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7604C>A	22.37:g.46768935G>T	ENSP00000262738:p.Ala2535Asp		51	0	0		54	0.06	3	NM_014246	9	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	g	16.90	3.249449	0.59103	.	.	ENSG00000075275	ENST00000262738	T	0.51817	0.69	4.28	4.28	0.50868	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000004	T	0.80428	0.4621	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88658	0.3187	10	0.72032	D	0.01	.	16.6681	0.85258	0.0:0.0:1.0:0.0	.	856;2535	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	D	2535	ENSP00000262738:A2535D	ENSP00000262738:A2535D	A	-	2	0	CELSR1	45147599	1.000000	0.71417	0.787000	0.31911	0.064000	0.16182	9.443000	0.97568	2.076000	0.62316	0.461000	0.40582	GCC			0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		T	46768935	G	T	46768935	3	4	112	1	0	0	0	0	1	0	0	0	3223	1203	42	2	1484	2	CELSR1	22	46768935	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10	25420069	46768935	4535631	61	8437											
STS	412	mdanderson.org	37	chrX	7171292	7171292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggaagccgagagccacGcagcatcaaggccgaacatc	12	4	13	12	3	1	1	1	0	0	1	2	4	1	2	3	2	4	2	3	2	3	0	rs377179856		TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chrX:7171292G>T	ENST00000217961.4	+	2	287	c.67G>T	c.(67-69)Gca>Tca	p.A23S		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	23				A -> E (in Ref. 2; AAA60596). {ECO:0000305}.	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)	CGAGAGCCACGCAGCATCAAG	0.498									Ichthyosis																												p.A23S													.	.			0			c.G67T												125	92	103					X																	7171292		2203	4299	6502	SO:0001583	missense	412	exon2	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGCCACGCAGCAT	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.67G>T	X.37:g.7171292G>T	ENSP00000217961:p.Ala23Ser		59	0	0		39	0.08	3	NM_000351	6	0	0	B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.735407	0.00681	.	.	ENSG00000101846	ENST00000217961	D	0.94793	-3.52	3.68	-2.78	0.05859	Alkaline-phosphatase-like, core domain (1);	11.187500	0.00702	N	0.000799	D	0.86280	0.5895	L	0.28556	0.865	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	T	0.78768	-0.2075	10	0.05721	T	0.95	.	0.5013	0.00580	0.2439:0.24:0.2871:0.2289	.	23	P08842	STS_HUMAN	S	23	ENSP00000217961:A23S	ENSP00000217961:A23S	A	+	1	0	STS	7181292	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.146000	0.10250	-1.356000	0.02183	-2.351000	0.00242	GCA			0.498	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055686.1		NM_000351		T	7171292	G	T	7171292	3	4	112	1	0	0	0	0	1	0	0	0	15355	1087	38	1	73	1	STS	23	7171292	Missense_Mutation	SNP	G	TCGA-XE-A9SE-01A-21D-A435-10		7171292	148099268	62	8438											
TFE3	7030	mdanderson.org	37	chrX	48900701	48900701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgaacacggctcgagggcCctccgcgctggcctctacgc	6	5	12	18	6	1	0	0	0	1	0	3	2	2	0	3	3	2	2	3	3	2	1			TCGA-XE-A9SE-01A-21D-A435-10	TCGA-XE-A9SE-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6a58d663-cd26-4aba-b604-263d1fd05531	7a457edc-11a8-4600-b310-4375e3d2c130	g.chrX:48900701C>T	ENST00000315869.7	-	1	311	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	18					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						GCTCGAGGGCCCTCCGCGCTG	0.756			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																p.G18S				Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	.	.			0			c.G52A												7	8	7					X																	48900701		2092	4119	6211	SO:0001583	missense	7030	exon1			GAGGGCCCTCCGC	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.52G>A	X.37:g.48900701C>T	ENSP00000314129:p.Gly18Ser		14	0	0		19	0.11	2	NM_006521	18	0	0	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	C	31	5.073367	0.94000	.	.	ENSG00000068323	ENST00000315869	T	0.13307	2.6	4.48	4.48	0.54585	.	0.340826	0.21202	N	0.078453	T	0.07503	0.0189	N	0.22421	0.69	0.32828	D	0.50364	P	0.40578	0.722	B	0.23852	0.049	T	0.14476	-1.0471	10	0.52906	T	0.07	-12.9642	11.3906	0.49811	0.0:1.0:0.0:0.0	.	18	P19532	TFE3_HUMAN	S	18	ENSP00000314129:G18S	ENSP00000314129:G18S	G	-	1	0	TFE3	48787645	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.873000	0.39558	2.064000	0.61679	0.506000	0.49869	GGC			0.756	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058872.2		NM_006521		T	48900701	C	T	48900701	3	4	112	1	0	0	0	0	1	0	0	0	15823	623	22	3	1715	3	TFE3	23	48900701	Missense_Mutation	SNP	C	TCGA-XE-A9SE-01A-21D-A435-10	41729409	48900701	106369859	63	8439											
GLTPD1	80772	mdanderson.org	37	chr1	1262375	1262375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagaaggaagaggtcttgCtggacccctacattgccagc	11	8	12	10	0	1	2	0	1	1	2	1	5	1	4	3	3	4	1	3	3	3	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr1:1262375C>T	ENST00000343938.4	+	2	496	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	GLTPD1_ENST00000464957.1_Intron|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|CPSF3L_ENST00000435064.1_5'Flank|CPSF3L_ENST00000411962.1_5'Flank|CPSF3L_ENST00000545578.1_5'Flank	NM_001029885.1	NP_001025056.1	Q5TA50	CPTP_HUMAN		29					ceramide 1-phosphate transport (GO:1902389)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide 1-phosphate binding (GO:1902387)|ceramide 1-phosphate transporter activity (GO:1902388)|glycolipid binding (GO:0051861)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			lung(1)	1	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;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGAGGTCTTGCTGGACCCCTA	0.567																																					p.L29L													.	.			0			c.C85T												92	80	84					1																	1262375		2203	4295	6498	SO:0001819	synonymous_variant	80772	exon2			GTCTTGCTGGACC																												ENST00000343938.4:c.85C>T	1.37:g.1262375C>T			64	0	0		39	0.08	3	NM_001029885	51	0	0	Q4G0E6|Q7L5A4	Silent	SNP	ENST00000343938.4	37	CCDS30555.1																																																																																					0.567	GLTPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008742.1				T	1262375	C	T	1262375	2	4	113	1	0	0	0	0	0	0	0	1	6486	796	28	2		2	GLTPD1	1	1262375	Silent	SNP	C	TCGA-XE-AANI-01A-11D-A435-10		1262375	247988246	1	8440											
RPL22	6146	mdanderson.org	37	chr1	6253102	6253102	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcactttgatcctttcttGcaaaaactgctcctgtagaa	10	15	6	10	0	2	2	1	1	1	1	4	2	4	2	2	0	3	4	2	0	4	5			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr1:6253102G>A	ENST00000234875.4	-	3	168	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	RPL22_ENST00000497965.1_Nonsense_Mutation_p.Q11*|RPL22_ENST00000484532.1_Nonsense_Mutation_p.Q11*	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	44					alpha-beta T cell differentiation (GO:0046632)|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)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|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;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		ATCCTTTCTTGCAAAAACTGC	0.438			T	RUNX1	"AML, CML"																																p.Q44X				Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	.	.			0			c.C130T												91	95	94					1																	6253102		2203	4300	6503	SO:0001587	stop_gained	6146	exon3			TTTCTTGCAAAAA	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"L ribosomal proteins"	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.130C>T	1.37:g.6253102G>A	ENSP00000346088:p.Gln44*		33	0	0		32	0.09	3	NM_000983	2901	0	0	B2R495|Q6IBD1	Nonsense_Mutation	SNP	ENST00000234875.4	37	CCDS58.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536281	0.85812	.	.	ENSG00000116251	ENST00000234875	.	.	.	4.95	4.95	0.65309	.	0.242393	0.42682	D	0.000676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-0.6239	18.5522	0.91069	0.0:0.0:1.0:0.0	.	.	.	.	X	44	.	ENSP00000346088:Q44X	Q	-	1	0	RPL22	6175689	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.378000	0.66190	2.453000	0.82957	0.591000	0.81541	CAA			0.438	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002830.1		NM_000983		A	6253102	G	A	6253102	4	1	113	1	0	0	0	0	0	1	0	0	13591	1328	46	2	264	2	RPL22	1	6253102	Nonsense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	4990727	6253102	242997519	2	8441											
AIM1L	55057	mdanderson.org	37	chr1	26664517	26664517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttaccctgggctcccctgGcttctccacacttgggcagc	4	11	9	17	0	2	0	0	0	2	0	4	0	3	0	4	3	2	3	4	3	1	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr1:26664517G>T	ENST00000308182.5	-	7	787	c.358C>A	c.(358-360)Cca>Aca	p.P120T	AIM1L_ENST00000527815.1_Missense_Mutation_p.P291T|AIM1L_ENST00000522993.1_5'UTR			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	120							carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGCTCCCCTGGCTTCTCCACA	0.572																																					p.P1165T													.	.			0			c.C3493A												46	38	41					1																	26664517		2203	4300	6503	SO:0001583	missense	55057	exon8			CCCCTGGCTTCTC			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.358C>A	1.37:g.26664517G>T	ENSP00000310435:p.Pro120Thr		87	0	0		39	0.08	3	NM_001039775	0		0	B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37		.	.	.	.	.	.	.	.	.	.	G	22.8	4.336337	0.81801	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.76578	-1.02;-1.03	5.13	5.13	0.70059	.	0.478172	0.23589	N	0.046565	D	0.83608	0.5291	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.87578	0.937;0.998	D	0.84474	0.0601	10	0.62326	D	0.03	.	16.1215	0.81361	0.0:0.0:1.0:0.0	.	37;120	Q9NTH7;Q8N1P7	.;AIM1L_HUMAN	T	291;120	ENSP00000433931:P291T;ENSP00000310435:P120T	ENSP00000310435:P120T	P	-	1	0	AIM1L	26537104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.848000	0.62874	2.675000	0.91044	0.655000	0.94253	CCA			0.572	AIM1L-201	KNOWN	basic	protein_coding	protein_coding				NM_001039775.2		T	26664517	G	T	26664517	3	4	113	1	0	0	0	0	1	0	0	0	431	1203	42	2	1544	2	AIM1L	1	26664517	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	20411415	26664517	222586104	3	8442											
CSMD2	114784	mdanderson.org	37	chr1	33998696	33998696	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgccatccgccttgcaGgtgcggtgctcggagccacc	5	7	13	16	3	0	0	0	0	0	0	2	1	1	1	5	3	6	3	5	3	0	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr1:33998696G>T	ENST00000373381.4	-	64	10301	c.10125C>A	c.(10123-10125)acC>acA	p.T3375T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3231						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)				CCGCCTTGCAGGTGCGGTGCT	0.657																																					p.T3231T													.	.			0			c.C9693A												35	33	34					1																	33998696		2203	4300	6503	SO:0001819	synonymous_variant	114784	exon63			CTTGCAGGTGCGG	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.10125C>A	1.37:g.33998696G>T			28	0	0		20	0.1	2	NM_052896	5	0	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																						0.657	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_052896		T	33998696	G	T	33998696	2	4	113	1	0	0	0	0	0	0	0	1	3947	987	35	3		3	CSMD2	1	33998696	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	7334179	33998696	215251925	4	8443											
HSD3B1	3283	mdanderson.org	37	chr1	120054150	120054150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacaagaccaagctgaCagtgctggaaggagacattc	15	5	11	10	0	0	4	0	1	0	3	1	6	0	5	2	2	3	2	2	2	4	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr1:120054150C>T	ENST00000369413.3	+	3	315	c.170C>T	c.(169-171)aCa>aTa	p.T57I	HSD3B1_ENST00000528909.1_Missense_Mutation_p.T57I|HSD3B1_ENST00000235547.6_Missense_Mutation_p.T59I			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	57					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	ACCAAGCTGACAGTGCTGGAA	0.478																																					p.T57I													.	.			0			c.C170T												82	75	77					1																	120054150		2203	4300	6503	SO:0001583	missense	3283	exon3			AGCTGACAGTGCT	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.170C>T	1.37:g.120054150C>T	ENSP00000358421:p.Thr57Ile		42	0	0		34	0.09	3	NM_000862	0		0	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943499	0.18281	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	T;D;D;D	0.88741	-0.24;-2.42;-2.42;-2.42	3.27	3.27	0.37495	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.497312	0.21727	N	0.070022	D	0.85405	0.5689	M	0.89287	3.02	0.26569	N	0.973594	B;B	0.27351	0.097;0.176	B;B	0.35413	0.078;0.202	T	0.81858	-0.0739	10	0.56958	D	0.05	-5.9883	7.6574	0.28383	0.2524:0.7476:0.0:0.0	.	59;57	Q5TDG2;P14060	.;3BHS1_HUMAN	I	57;57;59;57	ENSP00000435999:T57I;ENSP00000358421:T57I;ENSP00000235547:T59I;ENSP00000432268:T57I	ENSP00000235547:T59I	T	+	2	0	HSD3B1	119855673	0.657000	0.27393	0.842000	0.33263	0.580000	0.36256	1.073000	0.30691	1.651000	0.50673	0.491000	0.48974	ACA			0.478	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000034993.3		NM_000862		T	120054150	C	T	120054150	3	4	113	1	0	0	0	0	1	0	0	0	7405	478	17	3	176	3	HSD3B1	1	120054150	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	86055454	120054150	129196471	5	8444											
DNMT3A	1788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	25505572	25505572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcctttggcgtgtcaccGctttccacctgcaaatgtaa	7	12	10	12	2	1	0	1	0	0	0	3	0	3	0	4	2	1	3	4	2	2	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr2:25505572G>A	ENST00000264709.3	-	4	523	c.186C>T	c.(184-186)agC>agT	p.S62S	DNMT3A_ENST00000321117.5_Silent_p.S62S|DNMT3A_ENST00000406659.3_Silent_p.S62S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	62					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)					GCGTGTCACCGCTTTCCACCT	0.517			"Mis, F, N, S"		AML																																p.S62S				Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.			0			c.C186T												47	56	53					2																	25505572		2200	4297	6497	SO:0001819	synonymous_variant	1788	exon4			GTCACCGCTTTCC		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.186C>T	2.37:g.25505572G>A			113	0	0		95	0.27	26	NM_175630	48	0.31	15	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	CCDS33157.1																																																																																					0.517	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000211587.1		NM_022552		A	25505572	G	A	25505572	2	1	113	1	0	0	0	0	0	0	0	1	4681	1078	38	1		1	DNMT3A	2	25505572	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		25505572	217693801	6	8445											
EMILIN1	11117	mdanderson.org	37	chr2	27305627	27305627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgcggggcagggaggccaCcccccaggctacaccagctt	7	3	14	17	2	0	0	0	0	0	0	0	1	0	1	6	5	2	3	6	5	1	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr2:27305627C>T	ENST00000380320.4	+	4	1687	c.1188C>T	c.(1186-1188)caC>caT	p.H396H		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	396					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGAGGCCACCCCCCAGGCT	0.701																																					p.H396H													.	.			0			c.C1188T												5	5	5					2																	27305627		2028	3993	6021	SO:0001819	synonymous_variant	11117	exon4			AGGCCACCCCCCA	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1188C>T	2.37:g.27305627C>T			9	0	0		10	0.2	2	NM_007046	705	0	1	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	CCDS1733.1																																																																																					0.701	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214185.1		NM_007046		T	27305627	C	T	27305627	2	4	113	1	0	0	0	0	0	0	0	1	5100	506	18	3		3	EMILIN1	2	27305627	Silent	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	1800055	27305627	215893746	7	8446											
MTA3	57504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	42836614	42836614	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagaagaaattgaggaagaAtctgaaacaacagttgaggc	18	7	12	4	0	1	6	0	3	1	3	1	7	1	7	0	2	2	2	0	2	7	3	rs201096010		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr2:42836614A>G	ENST00000405094.1	+	4	207	c.207A>G	c.(205-207)gaA>gaG	p.E69E	MTA3_ENST00000407270.3_Silent_p.E69E|MTA3_ENST00000406652.1_Silent_p.E13E|MTA3_ENST00000406911.1_Silent_p.E69E|MTA3_ENST00000405592.1_Silent_p.E13E			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	69	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TTGAGGAAGAATCTGAAACAA	0.343																																					p.E69E													.	.			0			c.A207G												70	68	69					2																	42836614		1848	4096	5944	SO:0001819	synonymous_variant	57504	exon4			GGAAGAATCTGAA	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.207A>G	2.37:g.42836614A>G			117	0	0		110	0.29	32	NM_020744	95	0.31	29	Q9NSP2|Q9ULF4	Silent	SNP	ENST00000405094.1	37																																																																																						0.343	MTA3-017	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000318159.1		NM_020744		G	42836614	A	G	42836614	2	3	113	1	0	0	0	0	0	0	0	1	9926	98	4	4		4	MTA3	2	42836614	Silent	SNP	A	TCGA-XE-AANI-01A-11D-A435-10	15530987	42836614	200362759	8	8447											
SPEG	10290	mdanderson.org	37	chr2	220347856	220347856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaatgccacctggtgctgCgccccatccccgagctgctg	7	7	10	17	2	0	0	0	0	0	0	1	1	1	0	6	1	5	3	6	1	1	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr2:220347856C>T	ENST00000312358.7	+	30	5803	c.5671C>T	c.(5671-5673)Cgc>Tgc	p.R1891C	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1891					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTGGTGCTGCGCCCCATCCC	0.682																																					p.R1891C													.	.			0			c.C5671T												8	10	10					2																	220347856		1926	4088	6014	SO:0001583	missense	10290	exon30			GTGCTGCGCCCCA	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5671C>T	2.37:g.220347856C>T	ENSP00000311684:p.Arg1891Cys		40	0	0		43	0.07	3	NM_005876	9	0	0	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174276	0.38413	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.39997	1.05	4.89	4.89	0.63831	Protein kinase-like domain (1);	0.000000	0.39407	N	0.001363	T	0.52629	0.1746	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54906	-0.8223	10	0.87932	D	0	.	13.2379	0.59979	0.1588:0.8412:0.0:0.0	.	1891	Q15772	SPEG_HUMAN	C	1891	ENSP00000311684:R1891C	ENSP00000265327:R1891C	R	+	1	0	SPEG	220056100	0.998000	0.40836	1.000000	0.80357	0.823000	0.46562	0.547000	0.23299	2.538000	0.85594	0.557000	0.71058	CGC			0.682	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130252.2		NM_005876		T	220347856	C	T	220347856	3	4	113	1	0	0	0	0	1	0	0	0	15059	768	27	1	5801	1	SPEG	2	220347856	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	177511242	220347856	22851517	9	8448											
CAND2	23066	mdanderson.org	37	chr3	12851759	12851759	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgggtgcccaccagcccGactgccatccgcaccctgat	6	5	10	20	4	0	1	0	1	0	0	1	2	1	1	7	1	3	1	7	1	0	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr3:12851759G>T	ENST00000456430.2	+	5	734	c.693G>T	c.(691-693)ccG>ccT	p.P231P	CAND2_ENST00000295989.5_Silent_p.P138P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	231					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCACCAGCCCGACTGCCATCC	0.741																																					p.P231P	GBM(43;676 868 1633 6395 37496)												.	.			0			c.G693T												2	3	2					3																	12851759		1465	3343	4808	SO:0001819	synonymous_variant	23066	exon5			CAGCCCGACTGCC		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.693G>T	3.37:g.12851759G>T			17	0	0		20	0.1	2	NM_001162499	6	0.17	1	B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	CCDS54554.1																																																																																					0.741	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339856.4		XM_371617		T	12851759	G	T	12851759	2	4	113	1	0	0	0	0	0	0	0	1	2618	1045	37	1		1	CAND2	3	12851759	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		12851759	185170671	10	8449											
VILL	50853	mdanderson.org	37	chr3	38035877	38035877	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcctacaggacgagctGgggggccagaccgtgctgca	8	4	16	13	3	0	1	0	0	0	1	0	3	0	2	3	4	5	3	3	4	1	1	rs370182077		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr3:38035877G>T	ENST00000283713.6	+	4	527	c.261G>T	c.(259-261)ctG>ctT	p.L87L	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.L87L			O15195	VILL_HUMAN	villin-like	87					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGACGAGCTGGGGGGCCAGA	0.711																																					p.L87L													.	.			0			c.G261T							G		1,4331		0,1,2165	17	22	20		261	2	0	3		20	0,8542		0,0,4271	no	coding-synonymous	VILL	NM_015873.3		0,1,6436	TT,TG,GG		0.0,0.0231,0.0078		87/857	38035877	1,12873	2166	4271	6437	SO:0001819	synonymous_variant	50853	exon3			CGAGCTGGGGGGC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.261G>T	3.37:g.38035877G>T			65	0	0		48	0.06	3	NM_015873	9	0	0	A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																					0.711	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253360.3		NM_015873		T	38035877	G	T	38035877	2	4	113	1	0	0	0	0	0	0	0	1	17189	1335	47	3		3	VILL	3	38035877	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	25184118	38035877	159986553	11	8450											
ARIH2	10425	bcgsc.ca;mdanderson.org	37	chr3	48999100	48999100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccactggcaagtttcagAgatattggacaggtaaggta	12	12	11	6	0	1	1	1	0	0	1	2	3	2	2	1	4	0	4	1	4	4	6			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr3:48999100A>T	ENST00000356401.4	+	4	650	c.311A>T	c.(310-312)gAg>gTg	p.E104V	ARIH2_ENST00000449376.1_Missense_Mutation_p.E104V|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	104					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CAAGTTTCAGAGATATTGGAC	0.368																																					p.E104V													.	ARIH2	32		0			c.A311T												75	76	76					3																	48999100		2203	4300	6503	SO:0001583	missense	10425	exon4			TTTCAGAGATATT	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.311A>T	3.37:g.48999100A>T	ENSP00000348769:p.Glu104Val		82	0	0		77	0.06	5	NM_006321	59	0	0	Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935511	0.52866	.	.	ENSG00000177479	ENST00000452882;ENST00000430423;ENST00000356401;ENST00000449376;ENST00000420814;ENST00000444790	T;T;D;D;T	0.82803	1.27;1.37;-1.65;-1.65;1.27	5.26	5.26	0.73747	.	0.152710	0.64402	D	0.000014	T	0.79221	0.4409	L	0.40543	1.245	0.58432	D	0.999993	B;B;B	0.31318	0.031;0.319;0.001	B;B;B	0.34991	0.009;0.193;0.005	T	0.78730	-0.2090	10	0.49607	T	0.09	.	15.4683	0.75419	1.0:0.0:0.0:0.0	.	111;104;104	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	V	104;104;104;104;104;103	ENSP00000395560:E104V;ENSP00000399788:E104V;ENSP00000348769:E104V;ENSP00000403222:E104V;ENSP00000397225:E104V	ENSP00000348769:E104V	E	+	2	0	ARIH2	48974104	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.801000	0.75170	2.120000	0.65058	0.260000	0.18958	GAG			0.368	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257525.1		NM_006321		T	48999100	A	T	48999100	3	4	113	1	0	0	0	0	1	0	0	0	924	304	11	5	317	5	ARIH2	3	48999100	Missense_Mutation	SNP	A	TCGA-XE-AANI-01A-11D-A435-10	10963223	48999100	149023330	12	8451											
CACNA2D2	9254	mdanderson.org	37	chr3	50431589	50431589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagttctctgcagcaTcagccagtctctgagggaca	9	10	11	11	0	4	1	1	1	3	0	6	3	4	3	1	2	3	3	1	2	1	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr3:50431589T>C	ENST00000479441.1	-	4	415	c.416A>G	c.(415-417)gAt>gGt	p.D139G	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D139G|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D139G|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D139G|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.D139G|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D139G|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D70G|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D139G			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	139					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCTGCAGCATCAGCCAGTCT	0.607																																					p.D139G													.	.			0			c.A416G												149	128	135					3																	50431589		2203	4300	6503	SO:0001583	missense	9254	exon4			GCAGCATCAGCCA	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.416A>G	3.37:g.50431589T>C	ENSP00000418081:p.Asp139Gly		46	0	0		49	0.06	3	NM_006030	47	0	0	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249692	0.39797	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	4.32	4.32	0.51571	.	0.226618	0.36167	N	0.002749	T	0.06096	0.0158	L	0.29908	0.895	0.28559	N	0.911218	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.12785	-1.0534	10	0.46703	T	0.11	-14.317	12.8424	0.57811	0.0:0.0:0.0:1.0	.	139;139	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	G	139;139;139;70;139;139;139;139	ENSP00000407393:D139G;ENSP00000404631:D139G;ENSP00000266039:D139G;ENSP00000354228:D70G;ENSP00000390526:D139G;ENSP00000378519:D139G;ENSP00000390329:D139G;ENSP00000418081:D139G	ENSP00000266039:D139G	D	-	2	0	CACNA2D2	50406593	0.547000	0.26465	0.972000	0.41901	0.979000	0.70002	2.025000	0.41059	1.813000	0.52934	0.402000	0.26972	GAT			0.607	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000346457.1		NM_006030		C	50431589	T	C	50431589	3	2	113	1	0	0	0	0	1	0	0	0	2551	1435	50	4	3186	4	CACNA2D2	3	50431589	Missense_Mutation	SNP	T	TCGA-XE-AANI-01A-11D-A435-10	1432489	50431589	147590841	13	8452											
DOCK3	1795	broad.mit.edu;mdanderson.org	37	chr3	51251594	51251594	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcgtggagacatggaaCagattcggagagaaaatccc	13	9	11	8	2	1	3	0	0	1	3	4	7	2	5	1	3	1	0	1	3	3	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr3:51251594C>T	ENST00000266037.9	+	14	1191	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	390					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)		AGACATGGAACAGATTCGGAG	0.383																																					p.Q390X													.	DOCK3	397		0			c.C1168T												93	89	91					3																	51251594		1872	4122	5994	SO:0001587	stop_gained	1795	exon14			ATGGAACAGATTC	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.1168C>T	3.37:g.51251594C>T	ENSP00000266037:p.Gln390*		118	0	0		117	0.05	6	NM_004947	21	0	0	O15017	Nonsense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	36	5.899889	0.97081	.	.	ENSG00000088538	ENST00000266037	.	.	.	5.35	5.35	0.76521	.	0.050647	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.4352	0.94788	0.0:1.0:0.0:0.0	.	.	.	.	X	390	.	ENSP00000266037:Q390X	Q	+	1	0	DOCK3	51226634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.447000	0.66606	2.668000	0.90789	0.655000	0.94253	CAG			0.383	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346478.5		NM_004947		T	51251594	C	T	51251594	4	4	113	1	0	0	0	0	0	1	0	0	4693	479	17	3	1222	3	DOCK3	3	51251594	Nonsense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	820005	51251594	146770836	14	8453											
GLYCTK	132158	mdanderson.org	37	chr3	52326663	52326663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaccccatccatggctGgggcttctgtggaggaagat	7	9	13	12	0	2	1	1	0	1	1	3	3	3	3	4	5	0	2	4	5	1	1	rs200573074		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr3:52326663G>T	ENST00000436784.2	+	5	1153	c.1093G>T	c.(1093-1095)Ggg>Tgg	p.G365W	GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000477382.1_3'UTR|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000354773.4_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase	365					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)		ATCCATGGCTGGGGCTTCTGT	0.597																																					p.G365W													.	.			0			c.G1093T												34	38	36					3																	52326663		2203	4300	6503	SO:0001583	missense	132158	exon5			ATGGCTGGGGCTT		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.1093G>T	3.37:g.52326663G>T	ENSP00000389175:p.Gly365Trp		42	0	0		43	0.07	3	NM_145262	18	0	0	Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	G	8.099	0.776150	0.16051	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.46063	0.88	5.74	3.94	0.45596	.	0.372998	0.33005	N	0.005392	T	0.29684	0.0741	L	0.40543	1.245	0.23376	N	0.997801	B	0.06786	0.001	B	0.10450	0.005	T	0.18085	-1.0348	9	.	.	.	-6.7348	6.2519	0.20850	0.1863:0.0:0.6672:0.1465	.	365	Q8IVS8	GLCTK_HUMAN	W	365;299	ENSP00000389175:G365W	.	G	+	1	0	GLYCTK	52301703	0.039000	0.19947	0.007000	0.13788	0.633000	0.38033	0.686000	0.25392	0.770000	0.33336	0.655000	0.94253	GGG			0.597	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350835.1		NM_145262		T	52326663	G	T	52326663	3	4	113	1	0	0	0	0	1	0	0	0	6496	1348	47	3	1107	3	GLYCTK	3	52326663	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	1075069	52326663	145695767	15	8454											
LPHN3	23284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr4	62679544	62679544	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaggcacatcatggaCaagtttcatacatttctccg	11	10	9	11	1	3	0	2	0	1	0	4	1	3	1	1	3	1	3	1	3	2	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr4:62679544C>T	ENST00000514591.1	+	8	1542	c.1213C>T	c.(1213-1215)Caa>Taa	p.Q405*	LPHN3_ENST00000514996.1_Nonsense_Mutation_p.Q405*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.Q405*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.Q405*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.Q473*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.Q473*|LPHN3_ENST00000512091.2_Nonsense_Mutation_p.Q405*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.Q473*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.Q473*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.Q405*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.Q473*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.Q473*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.Q405*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.Q473*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.Q405*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	405					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						acatcatggacaagtttcata	0.358																																					p.Q405X													.	.			0			c.C1213T												117	112	114					4																	62679544		1933	4148	6081	SO:0001587	stop_gained	23284	exon6			CATGGACAAGTTT	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.1213C>T	4.37:g.62679544C>T	ENSP00000422533:p.Gln405*		78	0	0		89	0.34	30	NM_015236	20	0.05	1	E9PE04|O94867|Q9NWK5	Nonsense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	37	6.106046	0.97286	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.	.	.	3.67	3.67	0.42095	.	0.232564	0.37530	N	0.002048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	11.1945	0.48704	0.0:1.0:0.0:0.0	.	.	.	.	X	405;405;473;473;405;405;405;405;405;473;473;473;405;405;405;473;473;405	.	ENSP00000280009:Q405X	Q	+	1	0	LPHN3	62362139	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.846000	0.48262	2.343000	0.79666	0.563000	0.77884	CAA			0.358	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000361765.1				T	62679544	C	T	62679544	4	4	113	1	0	0	0	0	0	1	0	0	8933	479	17	3	1235	3	LPHN3	4	62679544	Nonsense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10		62679544	128474732	16	8455											
PRLR	5618	mdanderson.org	37	chr5	35068387	35068387	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagatgcaggtcaccatGctataaaataattcatgaga	17	9	9	6	0	2	2	2	1	0	2	2	4	2	3	1	2	2	2	1	2	5	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr5:35068387G>T	ENST00000382002.5	-	9	1212	c.786C>A	c.(784-786)agC>agA	p.S262R	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Splice_Site_p.S262R|PRLR_ENST00000511486.1_Splice_Site_p.S161R|PRLR_ENST00000342362.5_Splice_Site_p.S161R|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Splice_Site_p.S262R|PRLR_ENST00000231423.3_Splice_Site_p.S262R|PRLR_ENST00000542609.1_Splice_Site_p.S262R|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	262					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGGTCACCATGCTATAAAATA	0.378																																					p.S262R													.	.			0			c.C786A												121	113	116					5																	35068387		2203	4300	6503	SO:0001630	splice_region_variant	5618	exon8			CACCATGCTATAA		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.786-1C>A	5.37:g.35068387G>T			70	0	0		33	0.09	3	NM_001204316	3	0	0	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280920	0.23392	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;D;T;D;T	0.86562	-0.81;-0.8;-0.81;-2.14;-1.23;-2.14;-0.79	5.45	3.62	0.41486	.	0.115126	0.85682	N	0.000000	T	0.74298	0.3698	N	0.20685	0.6	0.48040	D	0.999571	B;B;B;B	0.32893	0.389;0.284;0.074;0.185	B;B;B;B	0.34722	0.085;0.188;0.059;0.099	T	0.63998	-0.6510	10	0.18276	T	0.48	.	5.7561	0.18174	0.1474:0.0:0.5587:0.2939	.	262;161;262;262	P16471;P16471-2;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	R	262;262;262;161;262;161;262	ENSP00000231423:S262R;ENSP00000424841:S262R;ENSP00000441813:S262R;ENSP00000339213:S161R;ENSP00000371432:S262R;ENSP00000422556:S161R;ENSP00000309008:S262R	ENSP00000231423:S262R	S	-	3	2	PRLR	35104144	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	1.141000	0.31528	0.753000	0.32945	0.591000	0.81541	AGC			0.378	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207575.2			Missense_Mutation	T	35068387	G	T	35068387	5	4	113	1	0	0	0	0	0	0	1	0	12551	1333	46	2	1090	2	PRLR	5	35068387	Splice_Site	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		35068387	145846873	17	8456											
DIAPH1	1729	ucsc.edu	37	chr5	140953699	140953699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgactaggaacagaaggaGgtacagtaatagctgccgca	15	5	12	9	2	0	1	0	0	0	1	0	4	0	3	1	3	4	4	1	3	6	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr5:140953699G>T	ENST00000398557.4	-	16	1858	c.1718C>A	c.(1717-1719)cCt>cAt	p.P573H	DIAPH1_ENST00000253811.6_Missense_Mutation_p.P573H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.P564H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.P564H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.P564H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.P564H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.P519H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.P573H	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	573					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)			AACAGAAGGAGGTACAGTAAT	0.507																																					p.P573H													.	DIAPH1	64		0			c.C1718A												72	77	75					5																	140953699		2062	4190	6252	SO:0001583	missense	1729	exon16			GAAGGAGGTACAG	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.1718C>A	5.37:g.140953699G>T	ENSP00000381565:p.Pro573His		66	0	0		41	0.1	4	NM_005219	32	0	0	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	6.498	0.460167	0.12342	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;1.42;-1.1;-1.1;-1.1;-1.1;-1.1	2.8	-1.44	0.08856	.	1.135460	0.06786	U	0.786116	T	0.67988	0.2952	L	0.49126	1.545	0.09310	N	1	B;B;B	0.31519	0.118;0.327;0.327	B;B;B	0.24394	0.053;0.053;0.053	T	0.54483	-0.8287	10	0.59425	D	0.04	.	6.6374	0.22891	0.6493:0.0:0.3507:0.0	.	519;564;573	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	573;519;564;564;564;573;573;564;12	ENSP00000373706:P573H;ENSP00000429282:P519H;ENSP00000381570:P564H;ENSP00000373709:P564H;ENSP00000381572:P564H;ENSP00000381565:P573H;ENSP00000253811:P573H;ENSP00000428268:P564H	ENSP00000253811:P573H	P	-	2	0	DIAPH1	140933883	0.235000	0.23794	0.002000	0.10522	0.017000	0.09413	2.262000	0.43285	-0.562000	0.06086	0.579000	0.79373	CCT			0.507	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				NM_005219		T	140953699	G	T	140953699	3	4	113	1	0	0	0	0	1	0	0	0	4523	1000	35	3	2152	3	DIAPH1	5	140953699	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	105885312	140953699	39961561	18	8457											
CCNJL	79616	mdanderson.org	37	chr5	159707575	159707575	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacggtgtagagctgcttGgaggtggtgacgttgtagcg	6	10	18	7	3	0	2	0	1	0	1	0	3	0	3	1	4	3	5	1	4	2	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr5:159707575G>T	ENST00000393977.3	-	3	522	c.237C>A	c.(235-237)tcC>tcA	p.S79S	CCNJL_ENST00000541762.1_Silent_p.S78S|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000505287.2_Silent_p.S124S|CCNJL_ENST00000257536.7_Silent_p.S79S|CCNJL_ENST00000519673.1_Silent_p.S79S	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	79	Cyclin N-terminal.					nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGCTGCTTGGAGGTGGTGA	0.627																																					p.S79S													.	.			0			c.C237A												94	96	95					5																	159707575		2166	4246	6412	SO:0001819	synonymous_variant	79616	exon3			CTGCTTGGAGGTG	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.237C>A	5.37:g.159707575G>T			58	0	0		21	0.1	2	NM_024565	10	0	0	Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	CCDS4350.2																																																																																					0.627	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252674.1		NM_024565		T	159707575	G	T	159707575	2	4	113	1	0	0	0	0	0	0	0	1	2931	1335	47	3		3	CCNJL	5	159707575	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	18753876	159707575	21207685	19	8458											
HLA-F	3134	bcgsc.ca	37	chr6	29694891	29694891	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctttaggaggggcaggaGcttccttcttcgttcttggc	4	13	14	10	2	2	0	0	0	2	0	4	2	3	2	1	6	1	4	1	6	1	7			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr6:29694891G>T	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.S423I|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						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)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AGGGGCAGGAGCTTCCTTCTT	0.443																																					p.S423I													.	HLA-F	41		0			c.G1268T												198	217	211					6																	29694891		1315	2586	3901	SO:0001628	intergenic_variant	3134	exon7			GCAGGAGCTTCCT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694891G>T			45	0	0		52	0.1	5	NM_001098479	10	0	0	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.69|10.69	1.422166|1.422166	0.25639|0.25639	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000444621|ENST00000449921;ENST00000259951	.|T	.|0.00832	.|5.64	0.62|0.62	0.62|0.62	0.17637|0.17637	.|.	.|.	.|.	.|.	.|.	T|T	0.00580|0.00580	0.0019|0.0019	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.49665	.|0.618	T|T	0.75107|0.75107	-0.3434|-0.3434	4|8	.|0.87932	.|D	.|0	.|.	.|.	.|.	.|.	.|.	.|423	.|P30511-3	.|.	S|I	105|400;423	.|ENSP00000259951:S423I	.|ENSP00000259951:S423I	A|S	+|+	1|2	0|0	HLA-F|HLA-F	29802870|29802870	0.909000|0.909000	0.30893|0.30893	0.791000|0.791000	0.31998|0.31998	0.448000|0.448000	0.32197|0.32197	-0.065000|-0.065000	0.11617|0.11617	0.580000|0.580000	0.29522|0.29522	0.436000|0.436000	0.28706|0.28706	GCT|AGC			0.443	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195083.1		NM_018950		T	29694891	G	T	29694891	1	4	113	0	1	0	0	0	0	0	0	0	7226	971	34	2		2	HLA-F	6	29694891	IGR	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		29694891	141420176	20	8459											
UBR2	23304	broad.mit.edu;bcgsc.ca	37	chr6	42582883	42582894	+	In_Frame_Del	DEL	AGACTGATGCTT	AGACTGATGCTT	-																															aaaactcttctctagtggacAgactgatgcttagtgattcc																										TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	AGACTGATGCTT	AGACTGATGCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr6:42582883_42582894delAGACTGATGCTT	ENST00000372899.1	+	9	1318_1329	c.1060_1071delAGACTGATGCTT	c.(1060-1071)agactgatgcttdel	p.RLML354del	UBR2_ENST00000372901.1_In_Frame_Del_p.RLML354del|UBR2_ENST00000372903.2_In_Frame_Del_p.RLML354del|UBR2_ENST00000372883.3_5'Flank	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	354					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCTAGTGGACAGACTGATGCTTAGTGATTCCA	0.377																																					p.354_357del													.	UBR2	134		0			c.1060_1071del																																									SO:0001651	inframe_deletion	23304	exon9			GTGGACAGACTGA	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1060_1071delAGACTGATGCTT	6.37:g.42582883_42582894delAGACTGATGCTT	ENSP00000361990:p.Arg354_Leu357del		82	0	0		67	0.1	7	NM_001184801	10	0	0	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	In_Frame_Del	DEL	ENST00000372899.1	37	CCDS4870.1																																																																																					0.377	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040558.2		NM_015255		-	42582894	AGACTGATGCTT	-	42582883	7	5	113	1	0	1	0	1	0	0	0	0	16926	180	7	0	1094	0	UBR2	6	42582883	In_Frame_Del	DEL	AGACTGATGCTT	TCGA-XE-AANI-01A-11D-A435-10	12887992	42582883	128532184	21	8460											
KLHDC3	116138	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr6	42985044	42985044	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgctctggtgaagactaTgagacactgcgtcagataga	12	10	11	8	1	2	5	1	2	1	4	2	6	2	5	0	1	3	1	0	1	4	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr6:42985044T>G	ENST00000326974.4	+	2	309	c.114T>G	c.(112-114)taT>taG	p.Y38*	KLHDC3_ENST00000244670.8_De_novo_Start_InFrame|KLHDC3_ENST00000332245.8_Nonsense_Mutation_p.Y38*	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	38					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)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTGAAGACTATGAGACACTGC	0.592																																					p.Y38X													.	KLHDC3	23		0			c.T114G												125	128	127					6																	42985044		2203	4300	6503	SO:0001587	stop_gained	116138	exon2			AGACTATGAGACA	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.114T>G	6.37:g.42985044T>G	ENSP00000313995:p.Tyr38*		53	0.0188679245	1		48	0.27	13	NM_057161	249	0.16	40	A8K2W9	Nonsense_Mutation	SNP	ENST00000326974.4	37	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.880406	0.91740	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000332245	.	.	.	5.05	-0.712	0.11226	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6899	0.40123	0.0:0.4512:0.0:0.5488	.	.	.	.	X	38	.	ENSP00000313995:Y38X	Y	+	3	2	KLHDC3	43093022	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	0.633000	0.24598	-0.049000	0.13379	0.533000	0.62120	TAT			0.592	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040570.1		NM_057161		G	42985044	T	G	42985044	4	3	113	1	0	0	0	0	0	1	0	0	8372	1471	51	4	116	4	KLHDC3	6	42985044	Nonsense_Mutation	SNP	T	TCGA-XE-AANI-01A-11D-A435-10	402161	42985044	128130023	22	8461											
GSTA4	2941	mdanderson.org	37	chr6	52859034	52859034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatagtggagcttgggccttGctgccatgatagcttttcag	7	13	13	8	0	1	1	1	1	0	0	1	3	1	2	2	2	4	3	2	2	2	6			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr6:52859034G>A	ENST00000370959.1	-	2	125	c.8C>T	c.(7-9)gCa>gTa	p.A3V	RN7SK_ENST00000365328.1_RNA|GSTA4_ENST00000370960.1_5'UTR|GSTA4_ENST00000541324.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	3	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CTTGGGCCTTGCTGCCATGAT	0.537																																					p.A3V													.	.			0			c.C8T												67	67	67					6																	52859034		2203	4300	6503	SO:0001583	missense	2941	exon2			GGCCTTGCTGCCA	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"Glutathione S-transferases / Soluble"	4629	protein-coding gene	gene with protein product		605450	"glutathione S-transferase A4"			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.8C>T	6.37:g.52859034G>A	ENSP00000359998:p.Ala3Val		44	0	0		34	0.09	3	NM_001512	206	0	0	B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395773	0.42512	.	.	ENSG00000170899	ENST00000370963;ENST00000370959	T;T	0.01613	4.73;4.73	5.7	-3.43	0.04810	Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (1);	0.871460	0.10422	N	0.676637	T	0.01029	0.0034	M	0.69823	2.125	0.19300	N	0.99998	B	0.02656	0.0	B	0.04013	0.001	T	0.40289	-0.9571	10	0.54805	T	0.06	-0.4118	12.5371	0.56147	0.0:0.1248:0.258:0.6172	.	3	O15217	GSTA4_HUMAN	V	3	ENSP00000360002:A3V;ENSP00000359998:A3V	ENSP00000359998:A3V	A	-	2	0	GSTA4	52966993	0.000000	0.05858	0.012000	0.15200	0.826000	0.46750	-0.460000	0.06720	-0.251000	0.09542	-1.014000	0.02459	GCA			0.537	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040946.1		NM_001512		A	52859034	G	A	52859034	3	1	113	1	0	0	0	0	1	0	0	0	6848	1319	46	2	684	2	GSTA4	6	52859034	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	9873990	52859034	118256033	23	8462											
TBX18	9096	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	85473885	85473885	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcacggcgagcccctTcgcttctcggccatcccccc	4	8	9	20	4	1	0	0	0	1	0	4	1	2	0	6	2	3	3	6	2	0	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr6:85473885T>A	ENST00000369663.5	-	1	352	c.15A>T	c.(13-15)cgA>cgT	p.R5R	TBX18_ENST00000606784.1_5'Flank|TBX18_ENST00000606521.1_5'Flank	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	5					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)		GCGAGCCCCTTCGCTTCTCGG	0.667																																					p.R5R													.	TBX18	131		0			c.A15T												5	5	5					6																	85473885		1917	3864	5781	SO:0001819	synonymous_variant	9096	exon1			GCCCCTTCGCTTC	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.15A>T	6.37:g.85473885T>A			19	0	0		21	0.19	4	NM_001080508	2	0.5	1	A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	CCDS34495.1																																																																																					0.667	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041378.2		NM_001080508		A	85473885	T	A	85473885	2	1	113	1	0	0	0	0	0	0	0	1	15676	1770	62	5		5	TBX18	6	85473885	Silent	SNP	T	TCGA-XE-AANI-01A-11D-A435-10	32614851	85473885	85641182	24	8463											
RARS2	57038	broad.mit.edu	37	chr6	88251684	88251684	+	Frame_Shift_Del	DEL	A	A	-																															tgcagtttttcctcatagccAaacagctggaagccagttcc																										TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr6:88251684delA	ENST00000369536.5	-	8	609	c.564delT	c.(562-564)tttfs	p.F188fs		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	188					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CCTCATAGCCAAACAGCTGGA	0.373																																					p.F188fs													.	RARS2	61		0			c.564delT												84	82	83					6																	88251684		2203	4300	6503	SO:0001589	frameshift_variant	57038	exon8			ATAGCCAAACAGC	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.564delT	6.37:g.88251684delA	ENSP00000358549:p.Phe188fs		28	0	0		37	0.22	8	NM_020320	51	0	0	B2RDT7|Q96FU5|Q9H8K8	Frame_Shift_Del	DEL	ENST00000369536.5	37	CCDS5011.1																																																																																					0.373	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041448.1		NM_020320		-	88251684	A	-	88251684	7	5	113	1	0	1	0	1	0	0	0	0	13082	127	5	0	1224	0	RARS2	6	88251684	Frame_Shift_Del	DEL	A	TCGA-XE-AANI-01A-11D-A435-10	2777799	88251684	82863383	25	8464											
EYA4	2070	broad.mit.edu	37	chr6	133804227	133804227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttcactcactgctcaccGggtcttatgcacagaagtat	9	14	7	11	1	4	1	3	0	1	1	4	1	4	1	1	1	2	3	1	1	3	4	rs563208631		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr6:133804227G>T	ENST00000367895.5	+	13	1629	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W	EYA4_ENST00000431403.2_Missense_Mutation_p.G389W|EYA4_ENST00000430974.2_Missense_Mutation_p.G341W|EYA4_ENST00000355167.3_Missense_Mutation_p.G389W|EYA4_ENST00000452339.2_Missense_Mutation_p.G335W|EYA4_ENST00000525849.1_Missense_Mutation_p.G366W|EYA4_ENST00000355286.6_Missense_Mutation_p.G366W|EYA4_ENST00000531901.1_Missense_Mutation_p.G395W	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	389					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)		ACTGCTCACCGGGTCTTATGC	0.338																																					p.G389W	Melanoma(57;398 1237 3528 4702 7415)												.	EYA4	196		0			c.G1165T												106	102	103					6																	133804227		2203	4300	6503	SO:0001583	missense	2070	exon13			CTCACCGGGTCTT	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.1165G>T	6.37:g.133804227G>T	ENSP00000356870:p.Gly389Trp		150	0	0		160	0.03	4	NM_172105	34	0	0	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719802	0.89205	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.43	5.43	0.79202	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.100632	0.64402	D	0.000002	D	0.91178	0.7221	M	0.83312	2.635	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	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	D	0.92029	0.5632	10	0.87932	D	0	-10.7352	19.2272	0.93822	0.0:0.0:1.0:0.0	.	395;341;335;366;389;389	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	W	335;341;389;389;366;395;366;389	ENSP00000395916:G335W;ENSP00000388670:G341W;ENSP00000356870:G389W;ENSP00000347294:G389W;ENSP00000347434:G366W;ENSP00000432770:G395W;ENSP00000433219:G366W;ENSP00000404558:G389W	ENSP00000347294:G389W	G	+	1	0	EYA4	133845920	1.000000	0.71417	0.989000	0.46669	0.961000	0.63080	9.869000	0.99810	2.535000	0.85469	0.557000	0.71058	GGG			0.338	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000042282.2		NM_004100		T	133804227	G	T	133804227	3	4	113	1	0	0	0	0	1	0	0	0	5338	1116	39	1	1211	1	EYA4	6	133804227	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	45552543	133804227	37310840	26	8465											
FRMD1	79981	broad.mit.edu	37	chr6	168461656	168461656	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagtgctggctgctgAccccactgcccgggaagctc	5	6	16	14	1	0	1	0	1	0	0	1	2	0	2	3	4	4	5	3	4	1	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr6:168461656A>C	ENST00000283309.6	-	9	1191	c.1127T>G	c.(1126-1128)gTc>gGc	p.V376G	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.V308G|FRMD1_ENST00000537786.1_Missense_Mutation_p.V147G	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	376						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		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)		CTGGCTGCTGACCCCACTGCC	0.642																																					p.V376G	GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												.	FRMD1	52		0			c.T1127G												32	32	32					6																	168461656		2202	4300	6502	SO:0001583	missense	79981	exon9			CTGCTGACCCCAC		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1127T>G	6.37:g.168461656A>C	ENSP00000283309:p.Val376Gly		84	0.2261904762	19		77	0.31	24	NM_024919	0		0	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	A	8.721	0.914257	0.17907	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.47177	0.85;0.85;0.85	2.48	-0.976	0.10286	.	0.902956	0.09085	N	0.850778	T	0.10252	0.0251	N	0.14661	0.345	0.44261	D	0.99711	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;0.0	T	0.33369	-0.9871	10	0.24483	T	0.36	.	4.6562	0.12618	0.167:0.636:0.0:0.197	.	311;376;308;271	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	G	376;308;147	ENSP00000283309:V376G;ENSP00000414115:V308G;ENSP00000440078:V147G	ENSP00000283309:V376G	V	-	2	0	FRMD1	168204505	0.998000	0.40836	0.000000	0.03702	0.121000	0.20230	0.710000	0.25748	-0.410000	0.07542	-0.940000	0.02684	GTC			0.642	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362513.2		NM_024919		C	168461656	A	C	168461656	3	2	113	1	0	0	0	0	1	0	0	0	6062	275	10	4	534	4	FRMD1	6	168461656	Missense_Mutation	SNP	A	TCGA-XE-AANI-01A-11D-A435-10	34657429	168461656	2653411	27	8466											
SP8	221833	mdanderson.org	37	chr7	20824970	20824970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgccgccgccgcCgctgcccccggaaactccgg	3	2	12	24	8	0	0	0	0	0	0	1	1	1	1	10	2	2	1	10	2	1	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr7:20824970C>T	ENST00000361443.4	-	3	649	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	SP8_ENST00000418710.2_Missense_Mutation_p.G156S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	138					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ccgccgccgccgctgcccccg	0.761																																					p.G156S													.	.			0			c.G466A																																									SO:0001583	missense	221833	exon2			CGCCGCCGCTGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.412G>A	7.37:g.20824970C>T	ENSP00000354482:p.Gly138Ser		33	0	0		37	0.08	3	NM_182700	2	0	0	Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435495	0.12045	.	.	ENSG00000164651	ENST00000418710;ENST00000361443	D;D	0.81821	-1.54;-1.54	3.09	2.16	0.27623	.	0.366549	0.17990	U	0.155235	T	0.58308	0.2113	N	0.08118	0	0.31008	N	0.719562	D;D	0.55605	0.972;0.972	B;B	0.41860	0.368;0.368	T	0.60005	-0.7347	10	0.08837	T	0.75	.	10.7467	0.46185	0.1919:0.8081:0.0:0.0	.	138;138	Q7Z615;Q8IXZ3	.;SP8_HUMAN	S	156;138	ENSP00000408792:G156S;ENSP00000354482:G138S	ENSP00000354482:G138S	G	-	1	0	SP8	20791495	.	.	0.969000	0.41365	0.291000	0.27294	.	.	0.455000	0.26910	0.306000	0.20318	GGC			0.761	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000326904.2				T	20824970	C	T	20824970	3	4	113	1	0	0	0	0	1	0	0	0	14993	652	23	1	1064	1	SP8	7	20824970	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10		20824970	138313693	28	8467											
EGFR	1956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	55273210	55273210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaccagcaggacttctttcCcaaggaagccaagccaaatg	13	7	8	13	0	1	0	0	0	1	0	2	2	2	2	4	2	4	1	4	2	5	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr7:55273210C>T	ENST00000275493.2	+	28	3710	c.3533C>T	c.(3532-3534)cCc>cTc	p.P1178L	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.P1125L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1178					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|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 fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GACTTCTTTCCCAAGGAAGCC	0.517		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.P1178L			yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	.	.			0			c.C3533T												73	64	67					7																	55273210		2203	4300	6503	SO:0001583	missense	1956	exon28	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	TCTTTCCCAAGGA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3533C>T	7.37:g.55273210C>T	ENSP00000275493:p.Pro1178Leu		137	0	0		162	0.23	38	NM_005228	19	0.21	4	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824831	0.90955	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.76316	-1.01;-1.0	5.34	5.34	0.76211	.	0.047903	0.85682	D	0.000000	D	0.86543	0.5958	M	0.80183	2.485	0.80722	D	1	D	0.61697	0.99	P	0.56343	0.796	D	0.88394	0.3010	10	0.87932	D	0	.	18.0405	0.89317	0.0:1.0:0.0:0.0	.	1178	P00533	EGFR_HUMAN	L	1048;1178;1125	ENSP00000275493:P1178L;ENSP00000395243:P1125L	ENSP00000275493:P1178L	P	+	2	0	EGFR	55240704	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.100000	0.76989	2.663000	0.90544	0.558000	0.71614	CCC			0.517	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251456.2		NM_005228		T	55273210	C	T	55273210	3	4	113	1	0	0	0	0	1	0	0	0	4972	623	22	3	3907	3	EGFR	7	55273210	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	34448240	55273210	103865453	29	8468											
SYPL1	6856	mdanderson.org	37	chr7	105752945	105752945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccgagtcgactgatccGctggcgaaccaagtagatgt	9	8	13	11	4	0	2	0	1	0	1	2	5	1	2	3	2	1	2	3	2	3	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr7:105752945G>A	ENST00000011473.2	-	1	77	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	SYPL1_ENST00000470347.1_5'Flank|SYPL1_ENST00000455385.2_5'Flank	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	11					synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						cgactgatccgctGGCGAACC	0.721																																					p.R11W													.	.			0			c.C31T												17	14	15					7																	105752945		2183	4270	6453	SO:0001583	missense	6856	exon1			TGATCCGCTGGCG		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"synaptophysin-like protein"	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.31C>T	7.37:g.105752945G>A	ENSP00000011473:p.Arg11Trp		33	0	0		21	0.1	2	NM_006754	4	0	0	A4D0R2|Q96AR8	Missense_Mutation	SNP	ENST00000011473.2	37	CCDS5736.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615160	0.28712	.	.	ENSG00000008282	ENST00000011473	T	0.37235	1.21	3.26	1.38	0.22167	.	0.918405	0.09264	N	0.826126	T	0.25827	0.0629	L	0.36672	1.1	0.80722	D	1	B	0.18310	0.027	B	0.06405	0.002	T	0.19321	-1.0309	10	0.87932	D	0	8.6574	3.753	0.08573	0.1315:0.0:0.6276:0.2408	.	11	Q16563	SYPL1_HUMAN	W	11	ENSP00000011473:R11W	ENSP00000011473:R11W	R	-	1	2	SYPL1	105540181	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	0.748000	0.26305	0.355000	0.24131	-0.500000	0.04577	CGG			0.721	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000349221.1				A	105752945	G	A	105752945	3	1	113	1	0	0	0	0	1	0	0	0	15485	1086	38	1	772	1	SYPL1	7	105752945	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	50479735	105752945	53385718	30	8469											
EPHB6	2051	mdanderson.org	37	chr7	142566831	142566831	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcgtccatcgctcgctGtctgcccacagcgtgctggt	3	11	11	16	4	1	0	0	0	1	0	5	0	2	0	3	1	3	3	3	1	0	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr7:142566831G>T	ENST00000392957.2	+	16	3175	c.2388G>T	c.(2386-2388)ctG>ctT	p.L796L	EPHB6_ENST00000442129.1_Silent_p.L796L|EPHB6_ENST00000411471.2_Silent_p.L519L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	796	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					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)					ATCGCTCGCTGTCTGCCCACA	0.637																																					p.L796L													.	.			0			c.G2388T												74	63	67					7																	142566831		2203	4300	6503	SO:0001819	synonymous_variant	2051	exon16			CTCGCTGTCTGCC	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.2388G>T	7.37:g.142566831G>T			52	0	0		40	0.08	3	NM_004445	82	0	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																					0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341329.1				T	142566831	G	T	142566831	2	4	113	1	0	0	0	0	0	0	0	1	5185	1364	48	3		3	EPHB6	7	142566831	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	36813886	142566831	16571832	31	8470											
KEL	3792	mdanderson.org	37	chr7	142639975	142639975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcatacctgcagcgcgatgGctagccccccaacgtctgca	8	7	10	16	3	1	0	0	0	1	0	1	1	1	0	4	1	7	4	4	1	3	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr7:142639975G>T	ENST00000355265.2	-	17	2402	c.1928C>A	c.(1927-1929)gCc>gAc	p.A643D		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	643					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)					CAGCGCGATGGCTAGCCCCCC	0.498																																					p.A643D													.	.			0			c.C1928A												104	94	97					7																	142639975		2203	4300	6503	SO:0001583	missense	3792	exon17			GCGATGGCTAGCC	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.1928C>A	7.37:g.142639975G>T	ENSP00000347409:p.Ala643Asp		58	0	0		45	0.07	3	NM_000420	2	0	0	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	6.955	0.546063	0.13312	.	.	ENSG00000197993	ENST00000355265	D	0.81821	-1.54	4.61	1.57	0.23409	Peptidase M13, neprilysin, C-terminal (2);	0.556995	0.16035	N	0.232700	T	0.74504	0.3725	M	0.71581	2.175	0.09310	N	0.999999	P	0.43231	0.801	B	0.37650	0.255	T	0.67496	-0.5656	10	0.87932	D	0	-11.0619	5.8463	0.18667	0.3464:0.0:0.6536:0.0	.	643	P23276	KELL_HUMAN	D	643	ENSP00000347409:A643D	ENSP00000347409:A643D	A	-	2	0	KEL	142350097	0.550000	0.26489	0.221000	0.23827	0.005000	0.04900	1.684000	0.37649	0.560000	0.29169	0.655000	0.94253	GCC			0.498	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347671.2		NM_000420		T	142639975	G	T	142639975	3	4	113	1	0	0	0	0	1	0	0	0	8157	1203	42	2	282	2	KEL	7	142639975	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	73144	142639975	16498688	32	8471											
MFHAS1	9258	broad.mit.edu;mdanderson.org	37	chr8	8749747	8749747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagaggttgagcattttgagCcgctgcaggcagctgaactg	9	9	15	8	1	0	4	0	3	0	1	0	5	0	4	1	2	5	6	1	2	1	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr8:8749747C>T	ENST00000276282.6	-	1	1408	c.822G>A	c.(820-822)cgG>cgA	p.R274R		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	274										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCATTTTGAGCCGCTGCAGGC	0.637																																					p.R274R	Melanoma(103;1201 2045 17515 28966)												.	MFHAS1	58		0			c.G822A												31	35	34					8																	8749747		2201	4298	6499	SO:0001819	synonymous_variant	9258	exon1			TTTGAGCCGCTGC	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.822G>A	8.37:g.8749747C>T			30	0	0		20	0.15	3	NM_004225	21	0	0	Q96CI0	Silent	SNP	ENST00000276282.6	37	CCDS34844.1																																																																																					0.637	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374724.2		NM_004225		T	8749747	C	T	8749747	2	4	113	1	0	0	0	0	0	0	0	1	9537	726	26	2		2	MFHAS1	8	8749747	Silent	SNP	C	TCGA-XE-AANI-01A-11D-A435-10		8749747	137614275	33	8472											
NPBWR1	2831	mdanderson.org	37	chr8	53852980	53852980	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtcacactcgtcgtgctGcccttcgcagtcttcgcccg	4	11	9	17	6	2	0	1	0	1	0	7	0	2	0	2	0	2	2	2	0	0	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr8:53852980G>T	ENST00000331251.3	+	1	1990	c.513G>T	c.(511-513)ctG>ctT	p.L171L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	171					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TCGTCGTGCTGCCCTTCGCAG	0.731																																					p.L171L													.	.			0			c.G513T												12	13	13					8																	53852980		2183	4263	6446	SO:0001819	synonymous_variant	2831	exon1			CGTGCTGCCCTTC	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.513G>T	8.37:g.53852980G>T			21	0	0		12	0.17	2	NM_005285	0		0	Q6NTC7	Silent	SNP	ENST00000331251.3	37	CCDS6151.1																																																																																					0.731	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378047.1		NM_005285		T	53852980	G	T	53852980	2	4	113	1	0	0	0	0	0	0	0	1	10585	1306	46	2		2	NPBWR1	8	53852980	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	45103233	53852980	92511042	34	8473											
PREX2	80243	mdanderson.org	37	chr8	69002939	69002939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcaggaagtacaggCggccaacgaaggtaagtggc	12	4	15	10	2	0	0	0	0	0	0	0	2	0	1	2	5	4	3	2	5	5	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr8:69002939C>T	ENST00000288368.4	+	20	2516	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	747	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAAGTACAGGCGGCCAACGAA	0.478																																					p.R747W													.	.			0			c.C2239T												86	73	77					8																	69002939		2203	4300	6503	SO:0001583	missense	80243	exon20			TACAGGCGGCCAA	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2239C>T	8.37:g.69002939C>T	ENSP00000288368:p.Arg747Trp		27	0	0		41	0.07	3	NM_025170	12	0	0	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211004	0.79240	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.36340	1.26	5.89	3.96	0.45880	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	N	0.22421	0.69	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;0.999	D;P;D	0.74023	0.982;0.889;0.949	T	0.49670	-0.8915	10	0.87932	D	0	.	15.5396	0.76031	0.3148:0.6852:0.0:0.0	.	747;747;747	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	W	747	ENSP00000288368:R747W	ENSP00000288368:R747W	R	+	1	2	PREX2	69165493	1.000000	0.71417	0.983000	0.44433	0.970000	0.65996	2.598000	0.46223	0.688000	0.31529	0.585000	0.79938	CGG			0.478	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378620.1		NM_025170		T	69002939	C	T	69002939	3	4	113	1	0	0	0	0	1	0	0	0	12497	759	27	1	2317	1	PREX2	8	69002939	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	15149959	69002939	77361083	35	8474											
TRPA1	8989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	72987612	72987612	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctccttcttttctccAgggcgccacatcttcctcag	4	13	9	15	1	4	0	1	0	3	0	7	0	6	0	4	3	0	1	4	3	0	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr8:72987612A>T	ENST00000262209.4	-	1	240	c.33T>A	c.(31-33)ccT>ccA	p.P11P		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	11					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)	TCTTTTCTCCAGGGCGCCACA	0.642																																					p.P11P													.	.			0			c.T33A												86	89	88					8																	72987612		2203	4300	6503	SO:0001819	synonymous_variant	8989	exon1			TTCTCCAGGGCGC	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.33T>A	8.37:g.72987612A>T			32	0	0		32	0.19	6	NM_007332	4	1	4	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																					0.642	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379079.2		NM_007332		T	72987612	A	T	72987612	2	4	113	1	0	0	0	0	0	0	0	1	16601	175	7	5		5	TRPA1	8	72987612	Silent	SNP	A	TCGA-XE-AANI-01A-11D-A435-10	3984673	72987612	73376410	36	8475											
CNBD1	168975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	88363932	88363932	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatagtggaaagtggaaaTataatttcttttgtgggtta	12	16	12	1	0	1	1	0	1	1	0	1	3	1	3	0	3	0	1	0	3	6	7			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr8:88363932T>C	ENST00000518476.1	+	9	1113	c.1062T>C	c.(1060-1062)aaT>aaC	p.N354N		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	354										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAAGTGGAAATATAATTTCTT	0.269																																					p.N354N													.	.			0			c.T1062C												73	73	73					8																	88363932		1790	4039	5829	SO:0001819	synonymous_variant	168975	exon9			TGGAAATATAATT	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1062T>C	8.37:g.88363932T>C			50	0	0		71	0.15	11	NM_173538	0		0		Silent	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.378390	0.01204	.	.	ENSG00000176571	ENST00000523299	.	.	.	5.36	-4.87	0.03123	.	.	.	.	.	T	0.15869	0.0382	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29640	-1.0005	4	.	.	.	-5.1407	0.3407	0.00333	0.2559:0.2506:0.2624:0.2311	.	.	.	.	T	46	.	.	I	+	2	0	CNBD1	88433048	0.844000	0.29557	0.030000	0.17652	0.047000	0.14425	-0.358000	0.07641	-0.236000	0.09753	0.528000	0.53228	ATA			0.269	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375113.2		NM_173538		C	88363932	T	C	88363932	2	2	113	1	0	0	0	0	0	0	0	1	3593	1403	49	4		4	CNBD1	8	88363932	Silent	SNP	T	TCGA-XE-AANI-01A-11D-A435-10	15376320	88363932	58000090	37	8476											
C9orf25	203259	mdanderson.org	37	chr9	34405956	34405956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagatggaggcggcggCtgggtcctgtggggagaaag	8	6	21	6	2	1	2	1	0	0	2	2	5	2	3	1	7	0	1	1	7	1	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr9:34405956C>T	ENST00000445726.1	-	2	373	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	FAM219A_ENST00000379089.1_Missense_Mutation_p.A22T|FAM219A_ENST00000379081.1_Missense_Mutation_p.A11T|FAM219A_ENST00000379087.1_Missense_Mutation_p.A22T|FAM219A_ENST00000297620.4_Missense_Mutation_p.A23T|FAM219A_ENST00000379078.1_Missense_Mutation_p.A22T|FAM219A_ENST00000379080.1_Missense_Mutation_p.A11T|FAM219A_ENST00000379084.1_Missense_Mutation_p.A22T	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	23																	GAGGCGGCGGCTGGGTCCTGT	0.587																																					p.A23T													.	.			0			c.G67A												63	65	64					9																	34405956		2203	4300	6503	SO:0001583	missense	203259	exon2			CGGCGGCTGGGTC	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 25"	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.67G>A	9.37:g.34405956C>T	ENSP00000392452:p.Ala23Thr		29	0	0		44	0.07	3	NM_147202	38	0	0	A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495875	0.26774	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409;ENST00000379078	.	.	.	5.2	3.34	0.38264	.	0.171345	0.51477	N	0.000090	T	0.65059	0.2655	L	0.47716	1.5	0.40867	D	0.983881	B;B;D;D;B	0.67145	0.006;0.001;0.996;0.996;0.002	B;B;D;D;B	0.79784	0.015;0.003;0.993;0.993;0.003	T	0.58482	-0.7629	9	0.20519	T	0.43	-5.1795	10.8436	0.46730	0.0:0.8287:0.0:0.1713	.	12;23;12;12;23	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	T	22;22;22;11;11;23;23;22;22	.	ENSP00000297620:A23T	A	-	1	0	C9orf25	34395956	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	1.727000	0.38095	0.219000	0.20840	-1.134000	0.01955	GCC			0.587	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_001184940		T	34405956	C	T	34405956	3	4	113	1	0	0	0	0	1	0	0	0	2478	797	28	2	510	2	C9orf25	9	34405956	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10		34405956	106807475	38	8477											
KIAA1958	158405	mdanderson.org	37	chr9	115336895	115336895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaaaagacctggggtagtcCcatcttccctccattcaagc	10	9	8	14	0	2	1	1	0	1	1	5	1	5	1	4	2	1	2	4	2	4	3	rs186262765		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr9:115336895C>A	ENST00000337530.6	+	2	831	c.535C>A	c.(535-537)Cca>Aca	p.P179T	KIAA1958_ENST00000536272.1_Missense_Mutation_p.P179T|KIAA1958_ENST00000374244.3_Missense_Mutation_p.P179T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	179										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TGGGGTAGTCCCATCTTCCCT	0.448																																					p.P179T													.	.			0			c.C535A												93	94	94					9																	115336895		2203	4300	6503	SO:0001583	missense	158405	exon2			GTAGTCCCATCTT	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.535C>A	9.37:g.115336895C>A	ENSP00000336940:p.Pro179Thr		70	0	0		41	0.07	3	NM_133465	9	0	0	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085241	0.20390	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.40756	1.02;1.02;1.02	6.07	5.12	0.69794	.	0.163862	0.42682	D	0.000672	T	0.19525	0.0469	N	0.08118	0	0.19575	N	0.999964	P;B	0.38922	0.651;0.421	B;B	0.29598	0.104;0.05	T	0.18967	-1.0320	10	0.66056	D	0.02	-19.7128	9.7918	0.40710	0.0:0.781:0.1433:0.0757	.	179;179	B7ZKW6;Q8N8K9	.;K1958_HUMAN	T	179	ENSP00000336940:P179T;ENSP00000363362:P179T;ENSP00000440504:P179T	ENSP00000336940:P179T	P	+	1	0	KIAA1958	114376716	0.097000	0.21791	0.487000	0.27428	0.848000	0.48234	1.834000	0.39171	2.884000	0.98904	0.655000	0.94253	CCA			0.448	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000053690.1		NM_133465		A	115336895	C	A	115336895	3	1	113	1	0	0	0	0	1	0	0	0	8279	623	22	3	537	3	KIAA1958	9	115336895	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	80930939	115336895	25876536	39	8478											
C5	727	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	123794397	123794397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcagaaattaccatattCtttaacttcaaaatatgcgg	14	15	5	7	1	3	1	2	0	1	1	3	1	3	1	1	1	3	0	1	1	7	8			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr9:123794397C>T	ENST00000223642.1	-	6	690	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	221					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)	TTACCATATTCTTTAACTTCA	0.358																																					p.E221K													.	.			0			c.G661A												81	86	84					9																	123794397		2202	4300	6502	SO:0001583	missense	727	exon6			CATATTCTTTAAC	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.661G>A	9.37:g.123794397C>T	ENSP00000223642:p.Glu221Lys		59	0	0		34	0.44	15	NM_001735	0		0	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629643	0.87660	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.38240	1.15	6.06	5.17	0.71159	.	0.113437	0.64402	D	0.000004	T	0.52322	0.1727	L	0.56340	1.77	0.43632	D	0.996029	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.45731	-0.9241	10	0.21014	T	0.42	.	13.864	0.63576	0.0:0.9269:0.0:0.0731	.	292;221	Q59GS8;P01031	.;CO5_HUMAN	K	221;292	ENSP00000223642:E221K	ENSP00000223642:E221K	E	-	1	0	C5	122834218	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.759000	0.62227	1.578000	0.49821	0.650000	0.86243	GAA			0.358	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053844.1		NM_001735		T	123794397	C	T	123794397	3	4	113	1	0	0	0	0	1	0	0	0	2282	922	32	3	4513	3	C5	9	123794397	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	8457502	123794397	17419034	40	8479											
METTL11A	28989	mdanderson.org	37	chr9	132395063	132395063	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaatcccacccacggtGgacggcatgcttggggggta	11	6	13	11	2	0	0	0	0	0	0	1	1	1	1	2	6	2	3	2	6	3	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr9:132395063G>T	ENST00000372486.1	+	2	430	c.81G>T	c.(79-81)gtG>gtT	p.V27V	NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000459968.2_Silent_p.V27V|NTMT1_ENST00000372481.3_Silent_p.V27V|NTMT1_ENST00000372480.1_Silent_p.V27V|NTMT1_ENST00000372483.4_Silent_p.V27V			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	27					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)										CACCCACGGTGGACGGCATGC	0.552																																					p.V27V													.	.			0			c.G81T												170	139	149					9																	132395063		2203	4300	6503	SO:0001819	synonymous_variant	28989	exon2			CACGGTGGACGGC	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.81G>T	9.37:g.132395063G>T			71	0	0		45	0.07	3	NM_014064	73	0	0	A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	ENST00000372486.1	37	CCDS35160.1																																																																																					0.552	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054589.1		NM_014064		T	132395063	G	T	132395063	2	4	113	1	0	0	0	0	0	0	0	1	9511	1335	47	3		3	METTL11A	9	132395063	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	8600666	132395063	8818368	41	8480											
LAMC3	10319	bcgsc.ca	37	chr9	133914313	133914313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagctcttccgcagcacaGgccacggcgggcgctgtcac	6	5	15	15	4	2	0	1	0	1	0	3	1	3	1	2	4	2	4	2	4	0	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr9:133914313G>T	ENST00000361069.4	+	5	1172	c.1039G>T	c.(1039-1041)Ggc>Tgc	p.G347C	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	347	Laminin EGF-like 2. {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)		CCGCAGCACAGGCCACGGCGG	0.627																																					p.G347C													.	LAMC3	167		0			c.G1039T												58	60	59					9																	133914313		2203	4299	6502	SO:0001583	missense	10319	exon5			AGCACAGGCCACG	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.1039G>T	9.37:g.133914313G>T	ENSP00000354360:p.Gly347Cys		64	0	0		43	0.09	4	NM_006059	35	0	0	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993228	0.93167	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.67523	-0.27	4.85	4.85	0.62838	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89223	0.3572	10	0.87932	D	0	.	17.3158	0.87224	0.0:0.0:1.0:0.0	.	347	Q9Y6N6	LAMC3_HUMAN	C	347	ENSP00000354360:G347C	ENSP00000325873:G347C	G	+	1	0	LAMC3	132904134	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	6.414000	0.73318	2.376000	0.81061	0.650000	0.86243	GGC			0.627	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054717.3		NM_006059		T	133914313	G	T	133914313	3	4	113	1	0	0	0	0	1	0	0	0	8631	1000	35	3	1057	3	LAMC3	9	133914313	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	1519250	133914313	7299118	42	8481											
CEL	1056	mdanderson.org	37	chr9	135939866	135939866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcctgggtgactctgtgGacatcttcaagggcatcccc	6	10	11	14	0	3	1	1	1	2	0	5	2	5	2	4	3	0	1	4	3	1	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr9:135939866G>T	ENST00000372080.4	+	2	167	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	CEL_ENST00000351304.7_Missense_Mutation_p.D48Y	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	48	Heparin-binding.				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCTGTGGACATCTTCAA	0.627																																					p.D51Y													.	.			0			c.G151T												85	98	94					9																	135939866		2069	4198	6267	SO:0001583	missense	1056	exon2			TCTGTGGACATCT	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.151G>T	9.37:g.135939866G>T	ENSP00000361151:p.Asp51Tyr		59	0	0		41	0.07	3	NM_001807	83	0	0	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938186	0.73557	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.66995	-0.24;-0.24	5.27	4.36	0.52297	Carboxylesterase, type B (1);	0.044283	0.85682	D	0.000000	T	0.72510	0.3469	L	0.28400	0.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75766	-0.3202	10	0.87932	D	0	.	13.8913	0.63740	0.0:0.0:0.8462:0.1538	.	48	P19835	CEL_HUMAN	Y	51;48;51	ENSP00000361151:D51Y;ENSP00000342217:D48Y	ENSP00000304021:D51Y	D	+	1	0	CEL	134929687	1.000000	0.71417	0.525000	0.27900	0.943000	0.58893	8.990000	0.93510	1.193000	0.43086	0.561000	0.74099	GAC			0.627	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054823.1				T	135939866	G	T	135939866	3	4	113	1	0	0	0	0	1	0	0	0	3211	1174	41	3	157	3	CEL	9	135939866	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	2025553	135939866	5273565	43	8482											
PNPLA7	375775	mdanderson.org	37	chr9	140374861	140374861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtgtgagcgtgccatctAcctggtagagcacgatcctg	8	9	14	10	2	1	2	0	1	1	1	2	3	2	2	3	2	4	2	3	2	2	2	rs1891630		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr9:140374861A>T	ENST00000277531.4	-	22	2594	c.2408T>A	c.(2407-2409)gTa>gAa	p.V803E	PNPLA7_ENST00000492278.1_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.V409E|PNPLA7_ENST00000406427.1_Missense_Mutation_p.V828E	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	803			V -> A (in dbSNP:rs1891630). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGTGCCATCTACCTGGTAGAG	0.652																																					p.V828E													.	.			0			c.T2483A												74	55	61					9																	140374861		2203	4300	6503	SO:0001583	missense	375775	exon23			CCATCTACCTGGT	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2408T>A	9.37:g.140374861A>T	ENSP00000277531:p.Val803Glu		73	0	0		45	0.04	2	NM_001098537	2	0	0	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890385	0.33348	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	4.92	4.02	0.46733	.	0.232742	0.44902	D	0.000415	T	0.17874	0.0429	N	0.24115	0.695	0.25807	N	0.984444	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.16689	-1.0394	10	0.72032	D	0.01	-4.4993	10.7163	0.46015	0.1563:0.0:0.8437:0.0	.	211;828;803	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	E	409;211;803;828;803;794	ENSP00000360512:V409E;ENSP00000360501:V211E;ENSP00000277531:V803E;ENSP00000384610:V828E;ENSP00000400582:V794E	ENSP00000277531:V803E	V	-	2	0	PNPLA7	139494682	1.000000	0.71417	0.912000	0.35992	0.026000	0.11368	6.399000	0.73248	0.507000	0.28148	-0.642000	0.03964	GTA			0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000254787.1		NM_152286		T	140374861	A	T	140374861	3	4	113	1	0	0	0	0	1	0	0	0	12187	391	14	5	1597	5	PNPLA7	9	140374861	Missense_Mutation	SNP	A	TCGA-XE-AANI-01A-11D-A435-10	4434995	140374861	838570	44	8483											
NMT2	9397	mdanderson.org	37	chr10	15174829	15174829	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtacctgtcataaatccGaatgtttgctgggatggcac	10	12	10	9	1	1	0	1	0	0	0	2	2	2	1	2	2	2	4	2	2	4	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr10:15174829G>T	ENST00000378165.4	-	6	786	c.706C>A	c.(706-708)Cgg>Agg	p.R236R	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Silent_p.R223R|NMT2_ENST00000378150.1_Silent_p.R223R|NMT2_ENST00000540259.1_Silent_p.R48R	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	236					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TCATAAATCCGAATGTTTGCT	0.418																																					p.R236R	Melanoma(117;1345 1645 4130 12688 30625)												.	.			0			c.C706A												102	100	101					10																	15174829		2203	4300	6503	SO:0001819	synonymous_variant	9397	exon6			AAATCCGAATGTT	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.706C>A	10.37:g.15174829G>T			59	0	0		51	0.06	3	NM_004808	15	0	0	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Silent	SNP	ENST00000378165.4	37	CCDS7109.1																																																																																					0.418	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046958.2		NM_004808		T	15174829	G	T	15174829	2	4	113	1	0	0	0	0	0	0	0	1	10521	1057	37	1		1	NMT2	10	15174829	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		15174829	120359918	45	8484											
TET1	80312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70332658	70332658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtaagagccaagagaCaactcagttttggtcccaaa	16	8	9	8	0	1	2	1	0	0	2	2	3	2	2	2	2	2	2	2	2	6	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr10:70332658C>T	ENST00000373644.4	+	2	772	c.563C>T	c.(562-564)aCa>aTa	p.T188I		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	188					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						AGCCAAGAGACAACTCAGTTT	0.463																																					p.T188I													.	.			0			c.C563T												65	65	65					10																	70332658		2203	4300	6503	SO:0001583	missense	80312	exon2			AAGAGACAACTCA	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.563C>T	10.37:g.70332658C>T	ENSP00000362748:p.Thr188Ile		46	0	0		43	0.23	10	NM_030625	9	0.33	3	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.511208	0.00984	.	.	ENSG00000138336	ENST00000373644	T	0.05996	3.36	4.91	0.594	0.17485	.	1.182240	0.06302	N	0.701046	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42699	-0.9436	10	0.05959	T	0.93	.	3.2948	0.06963	0.1824:0.5074:0.0:0.3102	.	188	Q8NFU7	TET1_HUMAN	I	188	ENSP00000362748:T188I	ENSP00000362748:T188I	T	+	2	0	TET1	70002664	0.000000	0.05858	0.544000	0.28141	0.209000	0.24338	-0.486000	0.06513	0.206000	0.20587	0.563000	0.77884	ACA			0.463	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048354.1		NM_030625		T	70332658	C	T	70332658	3	4	113	1	0	0	0	0	1	0	0	0	15792	478	17	3	565	3	TET1	10	70332658	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	55157829	70332658	65202089	46	8485											
LRDD	55367	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	802283	802283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggacgaggcctggctccGgcagcagcagccgatagcgg	7	3	19	12	4	0	0	0	0	0	0	1	3	1	1	3	6	4	4	3	6	1	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr11:802283G>A	ENST00000347755.5	-	6	1229	c.1088C>T	c.(1087-1089)cCg>cTg	p.P363L	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Missense_Mutation_p.P363L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GCCTGGCTCCGGCAGCAGCAG	0.692																																					p.P363L													.	.			0			c.C1088T												23	30	28					11																	802283		2193	4286	6479	SO:0001583	missense	55367	exon6			GGCTCCGGCAGCA																												ENST00000347755.5:c.1088C>T	11.37:g.802283G>A	ENSP00000337797:p.Pro363Leu		60	0	0		61	0.23	14	NM_145887	47	0.34	16		Missense_Mutation	SNP	ENST00000347755.5	37	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968157	0.53614	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.41400	1.0;1.0	4.02	4.02	0.46733	ZU5 (2);	0.083794	0.47852	D	0.000209	T	0.53997	0.1831	L	0.34521	1.04	0.51233	D	0.999918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.983	T	0.60136	-0.7322	10	0.72032	D	0.01	.	16.3431	0.83101	0.0:0.0:1.0:0.0	.	363;217;363	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	L	363	ENSP00000416801:P363L;ENSP00000337797:P363L	ENSP00000337797:P363L	P	-	2	0	PIDD	792283	1.000000	0.71417	0.784000	0.31847	0.107000	0.19398	4.219000	0.58561	2.082000	0.62665	0.561000	0.74099	CCG			0.692	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257103.1				A	802283	G	A	802283	3	1	113	1	0	0	0	0	1	0	0	0	8952	1116	39	1	1688	1	LRDD	11	802283	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		802283	134204233	47	8486											
AHNAK	79026	hgsc.bcm.edu	37	chr11	62294254	62294254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccttcaatgtccacCttgggtcctgagatgtcaac	8	11	10	12	0	3	1	3	1	0	1	5	2	5	1	4	2	1	0	4	2	2	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr11:62294254C>T	ENST00000378024.4	-	5	7909	c.7635G>A	c.(7633-7635)aaG>aaA	p.K2545K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2545					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)				CAATGTCCACCTTGGGTCCTG	0.483																																					p.K2545K													AHNAK,NS,carcinoma,-1,1	AHNAK	-1	1	0			c.G7635A												140	142	141					11																	62294254		2202	4299	6501	SO:0001819	synonymous_variant	79026	exon5			GTCCACCTTGGGT	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.7635G>A	11.37:g.62294254C>T			117	0	0		71	0.04	3	NM_001620	137	0.01	1	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																					0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395572.1		NM_024060		T	62294254	C	T	62294254	2	4	113	1	0	0	0	0	0	0	0	1	414	680	24	3		3	AHNAK	11	62294254	Silent	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	61491971	62294254	72712262	48	8487											
DYNC2H1	79659	mdanderson.org	37	chr11	102992194	102992194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcagaagttgtcaacaGtatagtttgggttcgccagt	9	15	10	7	1	3	1	2	0	1	1	4	1	3	1	1	1	1	4	1	1	4	6			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr11:102992194G>T	ENST00000375735.2	+	10	1598	c.1454G>T	c.(1453-1455)aGt>aTt	p.S485I	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.S485I|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S485I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	485	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)		GTTGTCAACAGTATAGTTTGG	0.348																																					p.S485I													.	.			0			c.G1454T												77	78	78					11																	102992194		1812	4068	5880	SO:0001583	missense	79659	exon10			TCAACAGTATAGT	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.1454G>T	11.37:g.102992194G>T	ENSP00000364887:p.Ser485Ile		55	0	0		42	0.07	3	NM_001377	2	0	0	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650085	0.47362	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.56776	0.44;0.44;0.44	5.44	5.44	0.79542	Dynein heavy chain, domain-1 (1);	0.478882	0.17129	U	0.185909	T	0.39682	0.1087	N	0.14661	0.345	0.24748	N	0.992999	B;B;B	0.18310	0.011;0.027;0.012	B;B;B	0.28784	0.022;0.094;0.056	T	0.38802	-0.9644	10	0.59425	D	0.04	.	11.7023	0.51577	0.9306:0.0:0.0694:0.0	.	485;485;485	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	I	485	ENSP00000364887:S485I;ENSP00000334021:S485I;ENSP00000381167:S485I	ENSP00000334021:S485I	S	+	2	0	DYNC2H1	102497404	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.001000	0.76297	1.006000	0.39211	-0.269000	0.10298	AGT			0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387196.1		XM_370652		T	102992194	G	T	102992194	3	4	113	1	0	0	0	0	1	0	0	0	4851	1029	36	3	1492	3	DYNC2H1	11	102992194	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	40697940	102992194	32014322	49	8488											
ERC1	23085	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	1137370	1137370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggacgtctgccttacGgtgttcggatgactgctatg	5	12	15	9	3	1	1	0	1	1	0	2	3	1	3	1	4	3	2	1	4	2	3	rs370287516		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr12:1137370G>A	ENST00000397203.2	+	2	707	c.301G>A	c.(301-303)Ggt>Agt	p.G101S	ERC1_ENST00000546231.2_Missense_Mutation_p.G101S|ERC1_ENST00000589028.1_Missense_Mutation_p.G101S|ERC1_ENST00000355446.5_Missense_Mutation_p.G101S|ERC1_ENST00000360905.4_Missense_Mutation_p.G101S|ERC1_ENST00000543086.3_Missense_Mutation_p.G101S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	101					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)			TCTGCCTTACGGTGTTCGGAT	0.512																																					p.G101S													.	.			0			c.G301A							G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	131	121	124		301,301	5.8	1	12		124	0,8600		0,0,4300	no	missense,missense	ERC1	NM_178039.2,NM_178040.2	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	101/1089,101/1117	1137370	1,13005	2203	4300	6503	SO:0001583	missense	23085	exon2			CCTTACGGTGTTC	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.301G>A	12.37:g.1137370G>A	ENSP00000380386:p.Gly101Ser		85	0	0		136	0.07	9	NM_178039	30	0.03	1	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541721	0.85917	2.27E-4	0.0	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.81	5.81	0.92471	.	0.048655	0.85682	D	0.000000	D	0.89104	0.6620	N	0.20986	0.625	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.935	D;D;B	0.74348	0.983;0.957;0.364	D	0.86669	0.1909	10	0.25751	T	0.34	-16.6321	20.0621	0.97678	0.0:0.0:1.0:0.0	.	101;101;101	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	S	101	ENSP00000340054:G101S;ENSP00000380386:G101S;ENSP00000438546:G101S;ENSP00000445336:G101S;ENSP00000442976:G101S;ENSP00000442739:G101S;ENSP00000347621:G101S;ENSP00000354158:G101S;ENSP00000410064:G101S	ENSP00000299183:G101S	G	+	1	0	ERC1	1007631	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	7.985000	0.88162	2.750000	0.94351	0.655000	0.94253	GGT			0.512	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064		A	1137370	G	A	1137370	3	1	113	1	0	0	0	0	1	0	0	0	5217	1116	39	1	303	1	ERC1	12	1137370	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		1137370	132714525	50	8489											
PTPRO	5800	broad.mit.edu;bcgsc.ca	37	chr12	15669735	15669742	+	Frame_Shift_Del	DEL	GGTCCTAC	GGTCCTAC	-																															atttaatgctctatcctttgGgtcctacggccgtggttctg																								rs1050646|rs137966245	byFrequency	TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	GGTCCTAC	GGTCCTAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr12:15669735_15669742delGGTCCTAC	ENST00000281171.4	+	9	1954_1961	c.1624_1631delGGTCCTAC	c.(1624-1632)ggtcctacgfs	p.GPT542fs	PTPRO_ENST00000348962.2_Frame_Shift_Del_p.GPT542fs|PTPRO_ENST00000543886.1_Frame_Shift_Del_p.GPT542fs	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	542	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			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)				CTATCCTTTGGGTCCTACGGCCGTGGTT	0.438																																					p.542_544del													.	PTPRO	148		0			c.1624_1631del																																									SO:0001589	frameshift_variant	5800	exon9			CCTTTGGGTCCTA	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.1624_1631delGGTCCTAC	12.37:g.15669735_15669742delGGTCCTAC	ENSP00000281171:p.Gly542fs		99	0	0		250	0.03	8	NM_002848	43	0	0	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Frame_Shift_Del	DEL	ENST00000281171.4	37	CCDS8675.1																																																																																					0.438	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401079.1				-	15669742	GGTCCTAC	-	15669735	7	5	113	1	0	1	0	1	0	0	0	0	12832	1232	43	0	1658	0	PTPRO	12	15669735	Frame_Shift_Del	DEL	GGTCCTAC	TCGA-XE-AANI-01A-11D-A435-10	14532365	15669735	118182160	51	8490	16	3									
PTPRO	5800	bcgsc.ca	37	chr12	15669741	15669742	+	Frame_Shift_Ins	INS	-	-	TTTAATG																															gctctatcctttgggtcctaINScggccgtggttctgagctgg																								rs137966245		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr12:15669741_15669742insTTTAATG	ENST00000281171.4	+	9	1960_1961	c.1630_1631insTTTAATG	c.(1630-1632)acgfs	p.T544fs	PTPRO_ENST00000348962.2_Frame_Shift_Ins_p.T544fs|PTPRO_ENST00000543886.1_Frame_Shift_Ins_p.T544fs	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	544	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			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)				TTTGGGTCCTACGGCCGTGGTT	0.431																																					p.T544_A545delinsIX													PTPRO,NS,carcinoma,-2,1	PTPRO	148	1	0			c.1630_1631insTTTAATG																																									SO:0001589	frameshift_variant	5800	exon9			GGTCCTACGGCCG	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	Exception_encountered	12.37:g.15669741_15669742insTTTAATG	ENSP00000281171:p.Thr544fs		102	0	0		243	0.02	6	NM_002848	47	0	0	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Frame_Shift_Ins	INS	ENST00000281171.4	37	CCDS8675.1																																																																																					0.431	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401079.1				TTTAATG	15669742	-	TTTAATG	15669741	7	5	113	1	0	1	1	0	0	0	0	0	12832	391	14	0	1664	0	PTPRO	12	15669741	Frame_Shift_Ins	INS	-	TCGA-XE-AANI-01A-11D-A435-10	6	15669741	118182154	52	8491	16	3									
PTPRO	5800	bcgsc.ca	37	chr12	15669742	15669743	+	Frame_Shift_Ins	INS	-	-	TCTATCCTTTG																															ctctatcctttgggtcctacINSggccgtggttctgagctgga																								rs137966245		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr12:15669742_15669743insTCTATCCTTTG	ENST00000281171.4	+	9	1961_1962	c.1631_1632insTCTATCCTTTG	c.(1630-1635)acggccfs	p.A545fs	PTPRO_ENST00000348962.2_Frame_Shift_Ins_p.A545fs|PTPRO_ENST00000543886.1_Frame_Shift_Ins_p.A545fs	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	545	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.T544T(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTGGGTCCTACGGCCGTGGTTC	0.431																																					p.T544fs													PTPRO,NS,carcinoma,-1,1	PTPRO	148	1	1	Substitution - coding silent(1)	kidney(1)	c.1631_1632insTCTATCCTTTG																																									SO:0001589	frameshift_variant	5800	exon9			GTCCTACGGCCGT	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	Exception_encountered	12.37:g.15669742_15669743insTCTATCCTTTG	ENSP00000281171:p.Ala545fs		101	0	0		240	0.03	6	NM_002848	47	0	0	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Frame_Shift_Ins	INS	ENST00000281171.4	37	CCDS8675.1																																																																																					0.431	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401079.1				TCTATCCTTTG	15669743	-	TCTATCCTTTG	15669742	7	5	113	1	0	1	1	0	0	0	0	0	12832	536	19	0	1665	0	PTPRO	12	15669742	Frame_Shift_Ins	INS	-	TCGA-XE-AANI-01A-11D-A435-10	1	15669742	118182153	53	8492	16	3									
KRT80	144501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52567452	52567452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgtcatactgggccttcaCctcctccacgatgccgctca	6	9	9	17	3	3	0	3	0	0	0	5	1	5	0	5	2	2	1	5	2	1	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr12:52567452C>A	ENST00000394815.2	-	5	860	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	KRT80_ENST00000313234.5_Missense_Mutation_p.V255L	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	255	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TGGGCCTTCACCTCCTCCACG	0.652																																					p.V255L	GBM(178;2309 2916 15678 35873)												.	.			0			c.G763T												89	77	81					12																	52567452		2203	4300	6503	SO:0001583	missense	144501	exon5			CCTTCACCTCCTC	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.763G>T	12.37:g.52567452C>A	ENSP00000378292:p.Val255Leu		45	0	0		47	0.23	11	NM_182507	9	0.44	4	Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	C	33	5.216458	0.95104	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89123	-2.47;-2.47	4.23	4.23	0.50019	Filament (1);	0.000000	0.34435	N	0.003969	D	0.95661	0.8589	M	0.92219	3.285	0.51233	D	0.999914	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.972;0.984;0.994	D	0.96747	0.9551	10	0.72032	D	0.01	.	17.1871	0.86869	0.0:1.0:0.0:0.0	.	255;255;290	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	L	255	ENSP00000369361:V255L;ENSP00000378292:V255L	ENSP00000369361:V255L	V	-	1	0	KRT80	50853719	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.847000	0.69451	2.375000	0.81037	0.561000	0.74099	GTG			0.652	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000316757.1		NM_182507		A	52567452	C	A	52567452	3	1	113	1	0	0	0	0	1	0	0	0	8509	507	18	3	650	3	KRT80	12	52567452	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	36897710	52567452	81284443	54	8493											
SLC16A7	9194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	60168593	60168593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtacctttttaatacttttGgctggaaaggaagcttcctg	10	15	9	7	0	0	0	0	0	0	0	1	2	1	2	2	3	3	3	2	3	5	8			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr12:60168593G>A	ENST00000261187.4	+	4	681	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	SLC16A7_ENST00000552024.1_Missense_Mutation_p.G173S|SLC16A7_ENST00000552432.1_Missense_Mutation_p.G173S|SLC16A7_ENST00000543448.1_Missense_Mutation_p.G74S|SLC16A7_ENST00000547379.1_Missense_Mutation_p.G173S	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	173					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TAATACTTTTGGCTGGAAAGG	0.448																																					p.G173S													.	.			0			c.G517A												67	66	67					12																	60168593		2203	4300	6503	SO:0001583	missense	9194	exon5			ACTTTTGGCTGGA	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.517G>A	12.37:g.60168593G>A	ENSP00000261187:p.Gly173Ser		74	0	0		90	0.34	31	NM_001270622	0		0	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373412	0.95923	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448;ENST00000548444	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	6.06	6.06	0.98353	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92770	0.7701	M	0.77486	2.375	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.91409	0.5149	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	173	O60669	MOT2_HUMAN	S	173;173;173;173;173;74;58	ENSP00000449547:G173S;ENSP00000448071:G173S;ENSP00000448742:G173S;ENSP00000446722:G173S;ENSP00000261187:G173S;ENSP00000443731:G74S;ENSP00000447814:G58S	.	G	+	1	0	SLC16A7	58454860	1.000000	0.71417	0.971000	0.41717	0.823000	0.46562	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GGC			0.448	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406587.1		NM_004731		A	60168593	G	A	60168593	3	1	113	1	0	0	0	0	1	0	0	0	14436	1348	47	3	527	3	SLC16A7	12	60168593	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	7601141	60168593	73683302	55	8494											
TRPV4	59341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	110230496	110230496	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taggtccccgtcagcttcagCccacgggtgaagtaaagggc	9	7	13	12	2	2	1	2	1	0	0	3	1	3	1	3	3	2	2	3	3	4	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr12:110230496C>T	ENST00000418703.2	-	10	1879	c.1785G>A	c.(1783-1785)ggG>ggA	p.G595G	TRPV4_ENST00000392719.2_Silent_p.G548G|TRPV4_ENST00000261740.2_Silent_p.G595G|TRPV4_ENST00000544971.1_Silent_p.G488G|TRPV4_ENST00000536838.1_Silent_p.G561G|TRPV4_ENST00000346520.2_Silent_p.G535G|TRPV4_ENST00000541794.1_Silent_p.G548G|TRPV4_ENST00000537083.1_Silent_p.G535G	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	595					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCAGCTTCAGCCCACGGGTGA	0.597																																					p.G595G													.	.			0			c.G1785A												93	75	81					12																	110230496		2203	4300	6503	SO:0001819	synonymous_variant	59341	exon11			CTTCAGCCCACGG	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1785G>A	12.37:g.110230496C>T			73	0	0		84	0.3	25	NM_021625	38	0.26	10	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	CCDS9134.1																																																																																					0.597	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403270.1		NM_021625		T	110230496	C	T	110230496	2	4	113	1	0	0	0	0	0	0	0	1	16622	726	26	2		2	TRPV4	12	110230496	Silent	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	50061903	110230496	23621399	56	8495											
SRRM4	84530	mdanderson.org	37	chr12	119568524	119568524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggcagaagtcccgccGaaggcactcccgccgctgct	8	4	14	15	4	0	1	0	0	0	1	2	3	2	2	4	3	1	4	4	3	3	0	rs559217766	byFrequency	TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr12:119568524G>T	ENST00000267260.4	+	8	1044	c.656G>T	c.(655-657)cGa>cTa	p.R219L	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	219	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AAGTCCCGCCGAAGGCACTCC	0.657																																					p.R219L													.	.			0			c.G656T												19	24	22					12																	119568524		1916	4105	6021	SO:0001583	missense	84530	exon8			CCCGCCGAAGGCA	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.656G>T	12.37:g.119568524G>T	ENSP00000267260:p.Arg219Leu		19	0	0		27	0.07	2	NM_194286	9	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322913	0.81580	.	.	ENSG00000139767	ENST00000267260	T	0.25085	1.82	5.07	4.18	0.49190	.	0.282843	0.28403	N	0.015470	T	0.23094	0.0558	L	0.50333	1.59	0.35720	D	0.817044	P	0.44429	0.835	P	0.44732	0.459	T	0.14699	-1.0463	10	0.05436	T	0.98	-2.736	10.6863	0.45846	0.0886:0.0:0.9114:0.0	.	219	A7MD48	SRRM4_HUMAN	L	219	ENSP00000267260:R219L	ENSP00000267260:R219L	R	+	2	0	SRRM4	118052907	0.951000	0.32395	0.966000	0.40874	0.950000	0.60333	1.852000	0.39348	1.135000	0.42183	0.448000	0.29417	CGA			0.657	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401640.2		NM_194286		T	119568524	G	T	119568524	3	4	113	1	0	0	0	0	1	0	0	0	15194	1058	37	1	686	1	SRRM4	12	119568524	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	9338028	119568524	14283371	57	8496											
MTIF3	219402	ucsc.edu	37	chr13	28014392	28014392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tattcttttttgtcttttttCcttcattctgggtgtcttca	3	25	5	8	0	6	0	2	0	4	0	7	0	7	0	1	1	0	0	1	1	1	11			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr13:28014392C>T	ENST00000381116.1	-	5	428	c.194G>A	c.(193-195)gGa>gAa	p.G65E	MTIF3_ENST00000381120.3_Missense_Mutation_p.G65E|MTIF3_ENST00000431572.2_Missense_Mutation_p.G65E|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Missense_Mutation_p.G65E			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	65					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGTCTTTTTTCCTTCATTCTG	0.403																																					p.G65E													.	MTIF3	21		0			c.G194A												106	109	108					13																	28014392		2203	4300	6503	SO:0001583	missense	219402	exon4			TTTTTTCCTTCAT	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.194G>A	13.37:g.28014392C>T	ENSP00000370508:p.Gly65Glu		123	0	0		74	0.01	1	NM_001166263	111	0.11	12	Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	C	3.884	-0.025346	0.07589	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.82	-0.823	0.10815	.	0.504141	0.21766	N	0.069438	T	0.15912	0.0383	L	0.36672	1.1	0.09310	N	1	B	0.23806	0.091	B	0.19148	0.024	T	0.09357	-1.0678	10	0.32370	T	0.25	-6.0618	0.9703	0.01414	0.2413:0.3473:0.1435:0.2679	.	65	Q9H2K0	IF3M_HUMAN	E	65	ENSP00000400084:G65E;ENSP00000384659:G65E;ENSP00000370508:G65E;ENSP00000370512:G65E	ENSP00000370508:G65E	G	-	2	0	MTIF3	26912392	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.094000	0.01351	0.048000	0.15891	0.655000	0.94253	GGA			0.403	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044300.1		NM_152912		T	28014392	C	T	28014392	3	4	113	1	0	0	0	0	1	0	0	0	9951	855	30	3	654	3	MTIF3	13	28014392	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10		28014392	87155486	58	8497											
MYH6	4624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr14	23874338	23874338	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggactggttctcccgatcTggaagaaaaaagaggagaag	15	7	13	6	1	2	3	0	0	2	3	3	7	2	5	1	4	0	1	1	4	5	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr14:23874338T>C	ENST00000356287.3	-	5	532		c.e5-2		MYH6_ENST00000405093.3_Splice_Site			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha						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)		TCTCCCGATCTGGAAGAAAAA	0.592																																					.													.	.			0			c.503-2A>G												98	95	96					14																	23874338		2203	4300	6503	SO:0001630	splice_region_variant	4624	exon7			CCGATCTGGAAGA	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.503-2A>G	14.37:g.23874338T>C			73	0	0		60	0.37	22	NM_002471	0		0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Splice_Site	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.638019	0.67130	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5626	0.61799	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH6	22944178	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.544000	0.82117	1.939000	0.56221	0.439000	0.28862	.			0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071796.3			Intron	C	23874338	T	C	23874338	5	2	113	1	0	0	0	0	0	0	1	0	10054	1594	55	4	5454	4	MYH6	14	23874338	Splice_Site	SNP	T	TCGA-XE-AANI-01A-11D-A435-10		23874338	83475202	59	8498											
FOXA1	3169	mdanderson.org	37	chr14	38061627	38061627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccattcatggaggccGcctgctgcgcacccatggcg	6	6	13	16	3	1	0	1	0	0	0	1	1	1	1	5	4	2	2	5	4	0	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr14:38061627G>T	ENST00000250448.2	-	2	423	c.362C>A	c.(361-363)gCg>gAg	p.A121E	FOXA1_ENST00000540786.1_Missense_Mutation_p.A88E|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	121					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CATGGAGGCCGCCTGCTGCGC	0.741																																					p.A121E													.	.			0			c.C362A												10	12	11					14																	38061627		2101	4123	6224	SO:0001583	missense	3169	exon2			GAGGCCGCCTGCT	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.362C>A	14.37:g.38061627G>T	ENSP00000250448:p.Ala121Glu		18	0	0		13	0.15	2	NM_004496	5	0	0	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343890	0.82022	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.19394	2.15;2.15	4.29	4.29	0.51040	Fork-head N-terminal (1);	0.292387	0.32563	N	0.005930	T	0.23649	0.0572	L	0.46157	1.445	0.44871	D	0.997888	P	0.38535	0.635	B	0.42959	0.403	T	0.02161	-1.1203	10	0.46703	T	0.11	.	12.1151	0.53860	0.0:0.0:1.0:0.0	.	121	P55317	FOXA1_HUMAN	E	121;88	ENSP00000250448:A121E;ENSP00000440178:A88E	ENSP00000250448:A121E	A	-	2	0	FOXA1	37131378	0.922000	0.31269	0.578000	0.28575	0.956000	0.61745	3.374000	0.52402	2.217000	0.71921	0.505000	0.49811	GCG			0.741	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276735.1				T	38061627	G	T	38061627	3	4	113	1	0	0	0	0	1	0	0	0	6002	1087	38	1	1060	1	FOXA1	14	38061627	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	14187289	38061627	69287913	60	8499											
FOS	2353	mdanderson.org	37	chr14	75747998	75747998	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgcactgcttacacGtcttccttcgtcttcaccta	6	13	5	17	2	3	0	1	0	2	0	5	0	4	0	3	0	4	3	3	0	2	5	rs558771086		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr14:75747998G>T	ENST00000303562.4	+	4	1223	c.1014G>T	c.(1012-1014)acG>acT	p.T338T	FOS_ENST00000555686.1_Silent_p.T224T|FOS_ENST00000555347.1_Silent_p.T190T|FOS_ENST00000535987.1_Silent_p.T302T	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	338					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CTGCTTACACGTCTTCCTTCG	0.637																																					p.T338T													.	.			0			c.G1014T												78	80	79					14																	75747998		2203	4300	6503	SO:0001819	synonymous_variant	2353	exon4			TTACACGTCTTCC	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.1014G>T	14.37:g.75747998G>T			50	0	0		35	0.09	3	NM_005252	958	0	0	A8K4E2|B4DQ65|P18849	Silent	SNP	ENST00000303562.4	37	CCDS9841.1																																																																																					0.637	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415044.1		NM_005252		T	75747998	G	T	75747998	2	4	113	1	0	0	0	0	0	0	0	1	5998	1132	40	1		1	FOS	14	75747998	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	37686371	75747998	31601542	61	8500											
MTMR15	22909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	31217365	31217365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaggggctggcggatccGgaagtcagaacgggacaccg	11	3	17	10	4	1	2	1	0	0	2	2	5	2	5	2	6	1	1	2	6	2	0	rs141117593		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr15:31217365G>A	ENST00000362065.4	+	9	2499	c.2208G>A	c.(2206-2208)ccG>ccA	p.P736P	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	736					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						TGGCGGATCCGGAAGTCAGAA	0.552								Direct reversal of damage																													p.P736P													.	.			0			c.G2208A							A		1,4403	2.1+/-5.4	0,1,2201	46	48	47		2208	-11.4	0	15	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous	FAN1	NM_014967.4		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		736/1018	31217365	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	22909	exon9			GGATCCGGAAGTC		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.2208G>A	15.37:g.31217365G>A			62	0	0		36	0.42	15	NM_014967	31	0.42	13	A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	CCDS32186.1																																																																																			0		0.552	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430740.1		NM_014967		A	31217365	G	A	31217365	2	1	113	1	0	0	0	0	0	0	0	1	9959	1103	39	1		1	MTMR15	15	31217365	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		31217365	71314027	62	8501											
MGA	23269	ucsc.edu;bcgsc.ca	37	chr15	42058685	42058685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatcagctatagaggaagCagctcttgattccagtgaac	14	9	9	9	0	2	3	1	2	1	1	3	4	3	4	1	1	5	3	1	1	5	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr15:42058685C>T	ENST00000570161.1	+	23	8405	c.8405C>T	c.(8404-8406)gCa>gTa	p.A2802V	MGA_ENST00000389936.4_Missense_Mutation_p.A2763V|MGA_ENST00000566586.1_Missense_Mutation_p.A2593V|MGA_ENST00000545763.1_Missense_Mutation_p.A2593V|MGA_ENST00000219905.7_Missense_Mutation_p.A2802V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					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)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATAGAGGAAGCAGCTCTTGAT	0.378																																					p.A2802V													.	MGA	264		0			c.C8405T												92	90	90					15																	42058685		2041	4200	6241	SO:0001583	missense	23269	exon24			AGGAAGCAGCTCT	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8405C>T	15.37:g.42058685C>T	ENSP00000457035:p.Ala2802Val		55	0	0		39	0.1	4	NM_001164273	26	0	0	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228323	0.79576	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85258	-1.92;-1.9;-1.96	5.37	4.43	0.53597	.	0.121611	0.36134	N	0.002776	T	0.76586	0.4008	N	0.19112	0.55	0.26041	N	0.981604	B;B	0.20671	0.047;0.028	B;B	0.23419	0.046;0.02	T	0.70702	-0.4799	10	0.87932	D	0	.	13.3557	0.60627	0.0:0.922:0.0:0.078	.	2593;2802	F5H7K2;E7ENI0	.;.	V	2802;2763;2593	ENSP00000219905:A2802V;ENSP00000374586:A2763V;ENSP00000442467:A2593V	ENSP00000219905:A2802V	A	+	2	0	MGA	39845977	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.689000	0.46993	1.430000	0.47334	0.650000	0.86243	GCA			0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000420229.1		NM_001164273.1		T	42058685	C	T	42058685	3	4	113	1	0	0	0	0	1	0	0	0	9556	710	25	2	8495	2	MGA	15	42058685	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	10841320	42058685	60472707	63	8502											
UACA	55075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	70976695	70976695	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagaactatcatggccaagCgcatccagcaagcttatatc	14	9	7	11	1	1	1	1	0	0	1	3	1	2	1	2	1	4	3	2	1	7	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr15:70976695C>T	ENST00000322954.6	-	8	878	c.693G>A	c.(691-693)gcG>gcA	p.A231A	UACA_ENST00000539319.1_Intron|UACA_ENST00000559183.1_5'Flank|UACA_ENST00000379983.2_Silent_p.A218A|UACA_ENST00000560441.1_Silent_p.A218A	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	231					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CATGGCCAAGCGCATCCAGCA	0.408																																					p.A231A													UACA_ENST00000322954,right_upper_lobe,carcinoma,-1,3	UACA_ENST00000322954	-1	3	0			c.G693A												192	182	185					15																	70976695		2199	4297	6496	SO:0001819	synonymous_variant	55075	exon8			GCCAAGCGCATCC	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.693G>A	15.37:g.70976695C>T			84	0	0		89	0.26	23	NM_018003	70	0.23	16	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	CCDS10235.1																																																																																					0.408	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257199.2				T	70976695	C	T	70976695	2	4	113	1	0	0	0	0	0	0	0	1	16848	755	27	1		1	UACA	15	70976695	Silent	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	28918010	70976695	31554697	64	8503											
SEC11A	23478	mdanderson.org	37	chr15	85234840	85234840	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcattagtgccgatgaGacaatcattccaaaatttag	15	11	7	8	1	2	2	2	1	0	2	3	4	3	2	2	0	1	0	2	0	5	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr15:85234840G>T	ENST00000268220.7	-	2	727	c.87C>A	c.(85-87)gtC>gtA	p.V29V	SEC11A_ENST00000558134.1_Silent_p.V29V|SEC11A_ENST00000560266.1_Silent_p.V29V|SEC11A_ENST00000455959.3_Silent_p.V3V	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	29					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			GTGCCGATGAGACAATCATTC	0.413																																					p.V29V													.	.			0			c.C87A												91	83	86					15																	85234840		1885	4124	6009	SO:0001819	synonymous_variant	23478	exon2			CGATGAGACAATC	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"SEC11-like 1 (S. cerevisiae)"	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.87C>A	15.37:g.85234840G>T			89	0.0112359551	1		75	0.05	4	NM_001271921	468	0	0	B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Silent	SNP	ENST00000268220.7	37	CCDS45340.1																																																																																					0.413	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418777.1		NM_014300		T	85234840	G	T	85234840	2	4	113	1	0	0	0	0	0	0	0	1	14001	929	33	3		3	SEC11A	15	85234840	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	14258145	85234840	17296552	65	8504											
CACNA1H	8912	mdanderson.org	37	chr16	1260952	1260952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtgctgcgtctgctgCggaccctgcggcctctgagg	2	9	16	14	5	2	1	0	1	2	0	2	2	2	2	2	3	6	2	2	3	0	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr16:1260952C>T	ENST00000348261.5	+	21	4452	c.4204C>T	c.(4204-4206)Cgg>Tgg	p.R1402W	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1402W|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1402W	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1402					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCGTCTGCTGCGGACCCTGCG	0.687																																					p.R1402W													.	.			0			c.C4204T												80	95	90					16																	1260952		2175	4268	6443	SO:0001583	missense	8912	exon21			CTGCTGCGGACCC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4204C>T	16.37:g.1260952C>T	ENSP00000334198:p.Arg1402Trp		19	0	0		23	0.13	3	NM_021098	35	0	0	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182653	0.57800	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98822	-5.16;-5.16	4.11	-0.907	0.10521	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	H	0.99794	4.785	0.46298	D	0.998971	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;0.999	D	0.98260	1.0498	10	0.87932	D	0	.	13.237	0.59974	0.5169:0.4831:0.0:0.0	.	143;143;143;1402;1402	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	W	1402	ENSP00000334198:R1402W;ENSP00000351401:R1402W	ENSP00000334198:R1402W	R	+	1	2	CACNA1H	1200953	0.993000	0.37304	0.998000	0.56505	0.538000	0.34931	0.541000	0.23207	0.090000	0.17273	0.491000	0.48974	CGG			0.687	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421601.1		NM_001005407		T	1260952	C	T	1260952	3	4	113	1	0	0	0	0	1	0	0	0	2547	759	27	1	4282	1	CACNA1H	16	1260952	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10		1260952	89093801	66	8505											
SRRM2	23524	bcgsc.ca;mdanderson.org	37	chr16	2819139	2819139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcttcttcctcctcctcttc	0	17	0	24	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	0	0	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr16:2819139C>T	ENST00000301740.8	+	12	8424	c.7875C>T	c.(7873-7875)tcC>tcT	p.S2625S	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2625	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						cctcctcctcctcttcttcct	0.592																																					p.S2625S													.	SRRM2	263		0			c.C7875T												141	121	128					16																	2819139		2198	4300	6498	SO:0001819	synonymous_variant	23524	exon12			CTCCTCCTCTTCT	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.7875C>T	16.37:g.2819139C>T			64	0.015625	1		68	0.07	5	NM_016333	719	0	3	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																					0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436411.1				T	2819139	C	T	2819139	2	4	113	1	0	0	0	0	0	0	0	1	15192	668	24	3		3	SRRM2	16	2819139	Silent	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	1558187	2819139	87535614	67	8506											
PRSS33	260429	mdanderson.org	37	chr16	2835120	2835120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtcgcaggtgcgcgaGtccagcagcggcacccttac	7	5	14	15	5	0	0	0	0	0	0	2	1	1	0	3	3	4	3	3	3	1	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr16:2835120G>T	ENST00000293851.5	-	5	726	c.567C>A	c.(565-567)gaC>gaA	p.D189E	PRSS33_ENST00000570702.1_Missense_Mutation_p.D189E|PRSS33_ENST00000576886.1_Missense_Mutation_p.L99I	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	189	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						AGGTGCGCGAGTCCAGCAGCG	0.701																																					p.D189E	NSCLC(194;489 2153 16702 19171 27758)												.	.			0			c.C567A												5	7	7					16																	2835120		2035	4123	6158	SO:0001583	missense	260429	exon5			GCGCGAGTCCAGC	AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"Serine peptidases / Serine peptidases"	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.567C>A	16.37:g.2835120G>T	ENSP00000293851:p.Asp189Glu		27	0	0		18	0.17	3	NM_152891	11	0	0	A6NNQ3|Q8N171	Missense_Mutation	SNP	ENST00000293851.5	37	CCDS42110.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765397	0.31228	.	.	ENSG00000103355	ENST00000293851	D	0.82526	-1.62	4.42	-1.14	0.09741	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.224693	0.30850	N	0.008742	D	0.82793	0.5114	L	0.41027	1.25	0.09310	N	0.999998	D	0.64830	0.994	D	0.69479	0.964	T	0.74808	-0.3539	10	0.35671	T	0.21	.	8.7673	0.34711	0.5112:0.0:0.4888:0.0	.	189	Q8NF86	PRS33_HUMAN	E	189	ENSP00000293851:D189E	ENSP00000293851:D189E	D	-	3	2	PRSS33	2775121	0.000000	0.05858	0.006000	0.13384	0.420000	0.31355	0.081000	0.14823	-0.545000	0.06224	0.486000	0.48141	GAC			0.701	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436446.1		NM_152891		T	2835120	G	T	2835120	3	4	113	1	0	0	0	0	1	0	0	0	12643	1020	36	3	283	3	PRSS33	16	2835120	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	15981	2835120	87519633	68	8507											
C16orf62	57020	broad.mit.edu	37	chr16	19612991	19612991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttttcctcccaggaaagCtcgtgtacgagcgcatcttt	7	13	8	13	3	1	0	0	0	1	0	5	2	4	1	3	1	3	3	3	1	2	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr16:19612991C>A	ENST00000251143.5	+	9	742	c.730C>A	c.(730-732)Ctc>Atc	p.L244I	C16orf62_ENST00000448695.1_Splice_Site_p.L94I|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000542263.1_Missense_Mutation_p.L333I|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000417362.2_Missense_Mutation_p.L244I|C16orf62_ENST00000438132.3_Missense_Mutation_p.L333I			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	244						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						CCCAGGAAAGCTCGTGTACGA	0.488											OREG0023661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L333I													.	C16orf62	164		0			c.C997A												157	124	135					16																	19612991		2197	4300	6497	SO:0001583	missense	57020	exon9			GGAAAGCTCGTGT		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.730C>A	16.37:g.19612991C>A	ENSP00000251143:p.Leu244Ile		86	0.011627907	1	734	66	0.06	4	NM_020314	65	0.05	3	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	C	17.02	3.283011	0.59867	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.3	1.97	0.26223	.	0.000000	0.64402	D	0.000001	T	0.77665	0.4164	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.67145	0.984;0.974;0.967;0.996	P;D;P;D	0.67725	0.752;0.953;0.789;0.946	T	0.79077	-0.1951	10	0.66056	D	0.02	-15.1376	10.2431	0.43324	0.0:0.7537:0.0:0.2463	.	244;333;244;333	B3KT69;F5H7K1;Q7Z3J2;E7EWW0	.;.;CP062_HUMAN;.	I	333;333;244;244;94	ENSP00000400815:L333I;ENSP00000442468:L333I;ENSP00000251143:L244I;ENSP00000395973:L244I;ENSP00000398009:L94I	ENSP00000251143:L244I	L	+	1	0	C16orf62	19520492	1.000000	0.71417	0.902000	0.35471	0.635000	0.38103	1.183000	0.32041	0.613000	0.30089	0.462000	0.41574	CTC			0.488	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_020314		A	19612991	C	A	19612991	3	1	113	1	0	0	0	0	1	0	0	0	1827	797	28	2	764	2	C16orf62	16	19612991	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	16777871	19612991	70741762	69	8508											
C16orf88	400506	mdanderson.org	37	chr16	19718523	19718523	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcaaaaccagcagtatcCcactggccaaactgggttcc	11	9	7	14	0	1	0	1	0	1	0	4	0	3	0	4	2	3	3	4	2	4	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr16:19718523C>T	ENST00000219837.7	-	5	1164	c.1086G>A	c.(1084-1086)tgG>tgA	p.W362*	KNOP1_ENST00000568230.1_Nonsense_Mutation_p.W41*|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	362	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CAGCAGTATCCCACTGGCCAA	0.517																																					p.W362X													.	.			0			c.G1086A												36	38	37					16																	19718523		1928	4129	6057	SO:0001587	stop_gained	400506	exon5			AGTATCCCACTGG	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.1086G>A	16.37:g.19718523C>T	ENSP00000219837:p.Trp362*		40	0	0		40	0.08	3	NM_001012991	110	0	0	O43328|Q5FWF3	Nonsense_Mutation	SNP	ENST00000219837.7	37	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	C	37	6.583499	0.97684	.	.	ENSG00000103550	ENST00000219837	.	.	.	4.96	4.96	0.65561	.	0.559743	0.19815	N	0.105449	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.7986	18.4134	0.90559	0.0:1.0:0.0:0.0	.	.	.	.	X	362	.	.	W	-	3	0	C16orf88	19626024	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.066000	0.71185	2.556000	0.86216	0.563000	0.77884	TGG			0.517	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435993.2		NM_001012991		T	19718523	C	T	19718523	4	4	113	1	0	0	0	0	0	1	0	0	1843	624	22	3	294	3	C16orf88	16	19718523	Nonsense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	105532	19718523	70636230	70	8509											
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	30723654	30723654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattgggctagactggctGgttaccatgtatgagaagaa	12	10	12	7	0	0	3	0	1	0	3	0	4	0	3	1	3	1	4	1	3	5	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr16:30723654G>A	ENST00000262518.4	+	13	2272	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	SRCAP_ENST00000395059.2_Silent_p.L629L|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Silent_p.L629L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	629					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)			TAGACTGGCTGGTTACCATGT	0.522																																					p.L629L													SRCAP,bladder,carcinoma,+2,1	SRCAP	2	1	0			c.G1887A												102	91	95					16																	30723654		2197	4300	6497	SO:0001819	synonymous_variant	10847	exon13			CTGGCTGGTTACC	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.1887G>A	16.37:g.30723654G>A			83	0	0		65	0.25	16	NM_006662	37	0.32	12	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																					0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255523.1		NM_006662		A	30723654	G	A	30723654	2	1	113	1	0	0	0	0	0	0	0	1	15158	1335	47	3		3	SRCAP	16	30723654	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	11005131	30723654	59631099	71	8510											
ARMC5	79798	mdanderson.org	37	chr16	31473510	31473510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactcgcagtgcctacaGagcgtggtgcgtgccctccg	6	7	14	14	4	0	1	0	0	0	1	2	2	1	2	3	2	5	1	3	2	1	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr16:31473510G>T	ENST00000563544.1	+	4	1188	c.642G>T	c.(640-642)caG>caT	p.Q214H	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000457010.2_Missense_Mutation_p.Q214H|ARMC5_ENST00000538189.1_Missense_Mutation_p.Q246H|ARMC5_ENST00000268314.4_Missense_Mutation_p.Q214H|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q50H|ARMC5_ENST00000408912.3_Missense_Mutation_p.Q309H			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	214										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTGCCTACAGAGCGTGGTGC	0.657																																					p.Q214H													.	.			0			c.G642T												68	74	72					16																	31473510		2162	4263	6425	SO:0001583	missense	79798	exon3			CCTACAGAGCGTG	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.642G>T	16.37:g.31473510G>T	ENSP00000456877:p.Gln214His		32	0	0		27	0.15	4	NM_001105247	47	0	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	g	15.73	2.920608	0.52653	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.25	3.29	0.37713	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58466	0.2124	L	0.50333	1.59	0.24453	N	0.994474	D;D;D;D;D	0.89917	0.997;0.997;1.0;0.997;0.998	D;D;D;D;D	0.85130	0.993;0.995;0.997;0.993;0.994	T	0.47315	-0.9127	10	0.44086	T	0.13	-6.5611	9.7277	0.40342	0.1027:0.0:0.8973:0.0	.	246;246;309;214;214	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	H	309;246;214;214;50	ENSP00000386125:Q309H;ENSP00000443995:Q246H;ENSP00000268314:Q214H;ENSP00000399561:Q214H;ENSP00000400183:Q50H	ENSP00000268314:Q214H	Q	+	3	2	ARMC5	31381011	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.471000	0.45127	1.003000	0.39130	0.556000	0.70494	CAG			0.657	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432847.1		NM_024742		T	31473510	G	T	31473510	3	4	113	1	0	0	0	0	1	0	0	0	954	933	33	3	652	3	ARMC5	16	31473510	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	749856	31473510	58881243	72	8511											
WDR81	124997	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	1631599	1631599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgacaagagcagcaccagcGagacctccctgggtgaggag	11	4	15	11	1	0	4	0	2	0	2	1	6	1	5	3	2	3	2	3	2	1	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr17:1631599G>A	ENST00000409644.1	+	1	3346	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_Missense_Mutation_p.E65K	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1116					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGCACCAGCGAGACCTCCCT	0.642																																					p.E1116K													.	WDR81	180		0			c.G3346A												51	59	57					17																	1631599		2202	4297	6499	SO:0001583	missense	124997	exon1			ACCAGCGAGACCT	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3346G>A	17.37:g.1631599G>A	ENSP00000386609:p.Glu1116Lys		63	0.0317460317	2		48	0.33	16	NM_001163809	31	0.23	7	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602748	0.87157	.	.	ENSG00000167716	ENST00000309182;ENST00000409644	T;T	0.60920	1.95;0.15	5.65	5.65	0.86999	.	0.101360	0.64402	D	0.000003	T	0.48021	0.1477	L	0.29908	0.895	0.80722	D	1	P;P	0.49862	0.929;0.929	B;B	0.38020	0.263;0.175	T	0.56300	-0.8002	10	0.72032	D	0.01	.	19.7221	0.96147	0.0:0.0:1.0:0.0	.	243;65	Q8TEL1;Q562E7	.;WDR81_HUMAN	K	65;1116	ENSP00000312074:E65K;ENSP00000386609:E1116K	ENSP00000312074:E65K	E	+	1	0	WDR81	1578349	1.000000	0.71417	0.789000	0.31954	0.867000	0.49689	9.720000	0.98763	2.679000	0.91253	0.655000	0.94253	GAG			0.642	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333118.2		NM_152348		A	1631599	G	A	1631599	3	1	113	1	0	0	0	0	1	0	0	0	17354	1059	37	1	3410	1	WDR81	17	1631599	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		1631599	79563611	73	8512											
GAS2L2	246176	broad.mit.edu	37	chr17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgctggcggcgaggggTcgggcgggggcagggccagc	3	2	26	10	5	0	0	0	0	0	0	1	1	0	0	1	10	1	2	1	10	0	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					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)		CGGCGAGGGGTCGGGCGGGGG	0.741																																					p.D189A													GAS2L2,right_upper_lobe,carcinoma,0,2	GAS2L2	94	2	0			c.A566C												20	26	24					17																	34077157		2188	4280	6468	SO:0001583	missense	246176	exon2			GAGGGGTCGGGCG	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.566A>C	17.37:g.34077157T>G	ENSP00000254466:p.Asp189Ala		60	0.3	18		64	0.52	33	NM_139285	5	0	0	Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	7.826	0.718860	0.15372	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.98	2.77	0.32553	.	1.437920	0.04140	N	0.319452	T	0.17152	0.0412	L	0.51422	1.61	0.26149	N	0.980163	P	0.37781	0.608	B	0.30401	0.115	T	0.28902	-1.0029	10	0.49607	T	0.09	0.0179	8.0796	0.30737	0.0:0.1677:0.0:0.8323	.	189	Q8NHY3	GA2L2_HUMAN	A	189	ENSP00000254466:D189A	ENSP00000254466:D189A	D	-	2	0	GAS2L2	31101270	0.986000	0.35501	0.134000	0.22075	0.011000	0.07611	2.112000	0.41892	0.749000	0.32854	0.402000	0.26972	GAC			0.741	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256497.1		NM_139285		G	34077157	T	G	34077157	3	3	113	1	0	0	0	0	1	0	0	0	6261	1667	58	4	2096	4	GAS2L2	17	34077157	Missense_Mutation	SNP	T	TCGA-XE-AANI-01A-11D-A435-10	32445558	34077157	47118053	74	8513											
EMILIN2	84034	ucsc.edu	37	chr18	2913106	2913106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgggcgctacctgatcacgGccaccctcacccccgagaga	9	5	10	17	3	2	2	2	1	0	1	2	4	2	2	5	2	1	1	5	2	1	1			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr18:2913106G>T	ENST00000254528.3	+	8	3025	c.2866G>T	c.(2866-2868)Gcc>Tcc	p.A956S	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	956	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCTGATCACGGCCACCCTCAC	0.622																																					p.A956S													.	EMILIN2	97		0			c.G2866T												56	58	57					18																	2913106		2203	4300	6503	SO:0001583	missense	84034	exon8			ATCACGGCCACCC	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2866G>T	18.37:g.2913106G>T	ENSP00000254528:p.Ala956Ser		45	0	0		33	0.12	4	NM_032048	31	0	0	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113632	0.56398	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	T	0.74947	-0.89	5.38	5.38	0.77491	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.64402	D	0.000001	D	0.85483	0.5707	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82335	-0.0508	10	0.27785	T	0.31	-21.6945	19.4811	0.95009	0.0:0.0:1.0:0.0	.	956	Q9BXX0	EMIL2_HUMAN	S	956;233	ENSP00000254528:A956S	ENSP00000254528:A956S	A	+	1	0	EMILIN2	2903106	1.000000	0.71417	0.961000	0.40146	0.048000	0.14542	9.358000	0.97109	2.669000	0.90835	0.655000	0.94253	GCC			0.622	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250337.2		NM_032048		T	2913106	G	T	2913106	3	4	113	1	0	0	0	0	1	0	0	0	5101	1203	42	2	2896	2	EMILIN2	18	2913106	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		2913106	75164142	75	8514											
OSBPL1A	114876	mdanderson.org	37	chr18	21747306	21747306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcacctgggcagaatttGgaggccgtggggctattcgc	6	10	15	10	2	1	1	1	0	1	1	3	2	1	2	2	5	0	2	2	5	2	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr18:21747306G>T	ENST00000319481.3	-	25	2728	c.2522C>A	c.(2521-2523)cCa>cAa	p.P841Q	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.P459Q|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.P328Q	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	841				P -> S (in Ref. 1; AAL40662). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GGCAGAATTTGGAGGCCGTGG	0.552																																					p.P841Q													.	.			0			c.C2522A												71	73	72					18																	21747306		2203	4300	6503	SO:0001583	missense	114876	exon25			GAATTTGGAGGCC	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2522C>A	18.37:g.21747306G>T	ENSP00000320291:p.Pro841Gln		122	0	0		68	0.07	5	NM_080597	57	0	0	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497864	0.44455	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.29917	1.55;1.55;1.55	6.02	5.14	0.70334	.	0.146336	0.64402	D	0.000006	T	0.39682	0.1087	M	0.72118	2.19	0.80722	D	1	P	0.42203	0.773	B	0.42827	0.399	T	0.36553	-0.9743	10	0.54805	T	0.06	-16.8454	15.1526	0.72713	0.0677:0.0:0.9323:0.0	.	841	Q9BXW6	OSBL1_HUMAN	Q	841;328;459	ENSP00000320291:P841Q;ENSP00000382372:P328Q;ENSP00000349545:P459Q	ENSP00000320291:P841Q	P	-	2	0	OSBPL1A	20001304	1.000000	0.71417	0.797000	0.32132	0.987000	0.75469	6.069000	0.71209	1.541000	0.49316	0.655000	0.94253	CCA			0.552	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254902.1		NM_080597		T	21747306	G	T	21747306	3	4	113	1	0	0	0	0	1	0	0	0	11294	1348	47	3	346	3	OSBPL1A	18	21747306	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	18834200	21747306	56329942	76	8515											
KCTD1	284252	mdanderson.org	37	chr18	24127791	24127791	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggggctcattgaggtagCggttgagggagctgcggatg	7	8	20	6	3	1	2	1	2	0	0	1	4	1	4	0	6	3	4	0	6	1	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr18:24127791C>T	ENST00000408011.3	-	1	545				KCTD1_ENST00000417602.1_Missense_Mutation_p.R237H|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000580059.1_5'Flank	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ATTGAGGTAGCGGTTGAGGGA	0.662																																					p.R237H													.	.			0			c.G710A												80	87	85					18																	24127791		692	1591	2283	SO:0001627	intron_variant	284252	exon1			AGGTAGCGGTTGA	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+1063G>A	18.37:g.24127791C>T			12	0	0		14	0.14	2	NM_001142730	30	0	0	A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990697	0.74589	.	.	ENSG00000134504	ENST00000417602	D	0.85556	-2.0	4.53	4.53	0.55603	.	.	.	.	.	D	0.90892	0.7138	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.92418	0.5943	6	0.87932	D	0	.	15.8648	0.79057	0.0:1.0:0.0:0.0	.	.	.	.	H	237	ENSP00000408405:R237H	ENSP00000408405:R237H	R	-	2	0	KCTD1	22381789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.964000	0.76061	2.073000	0.62155	0.563000	0.77884	CGC			0.662	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000446265.1		XM_209091		T	24127791	C	T	24127791	1	4	113	0	1	0	0	0	0	0	0	0	8111	768	27	1		1	KCTD1	18	24127791	Intron	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	2380485	24127791	53949457	77	8516											
ZNF236	7776	bcgsc.ca	37	chr18	74637144	74637144	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttggctgggcttttcacaGgtcagaagctcttcagctgt	6	14	11	10	0	5	1	3	0	2	1	5	1	5	1	0	3	2	4	0	3	1	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr18:74637144G>T	ENST00000253159.8	+	22	3853		c.e22-1		ZNF236_ENST00000320610.9_Splice_Site	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						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)		GCTTTTCACAGGTCAGAAGCT	0.547																																					.													.	ZNF236	325		0			c.3656-1G>T												96	96	96					18																	74637144		2064	4219	6283	SO:0001630	splice_region_variant	7776	exon22			TTCACAGGTCAGA	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.3656-1G>T	18.37:g.74637144G>T			70	0	0		46	0.09	4	NM_007345	0		0	B2RTX9|Q9UL37	Splice_Site	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076210	0.76415	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9368	0.92589	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF236	72766132	1.000000	0.71417	0.970000	0.41538	0.717000	0.41224	9.424000	0.97464	2.475000	0.83589	0.650000	0.86243	.			0.547	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000445776.1			Intron	T	74637144	G	T	74637144	5	4	113	1	0	0	0	0	0	0	1	0	17812	1014	35	3	3741	3	ZNF236	18	74637144	Splice_Site	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	50509353	74637144	3440104	78	8517											
OLFM2	93145	mdanderson.org	37	chr19	9965327	9965327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccgggaggctcctctgCaccagcacagagcgcgagcg	7	3	15	16	5	1	1	0	0	1	1	2	3	2	2	3	2	4	3	3	2	0	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr19:9965327C>T	ENST00000264833.4	-	6	1085	c.900G>A	c.(898-900)gtG>gtA	p.V300V	OLFM2_ENST00000590841.1_Silent_p.V222V	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	300	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GGCTCCTCTGCACCAGCACAG	0.617																																					p.V300V													.	.			0			c.G900A												61	61	61					19																	9965327		2203	4300	6503	SO:0001819	synonymous_variant	93145	exon6			CCTCTGCACCAGC	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.900G>A	19.37:g.9965327C>T			56	0	0		42	0.07	3	NM_058164	313	0	0	Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	CCDS12221.1																																																																																					0.617	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451119.1				T	9965327	C	T	9965327	2	4	113	1	0	0	0	0	0	0	0	1	10870	697	25	2		2	OLFM2	19	9965327	Silent	SNP	C	TCGA-XE-AANI-01A-11D-A435-10		9965327	49163656	79	8518											
PRKCSH	5589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11546956	11546956	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatgctgttgccgctgctGctgctgctacccatgtgctg	4	12	13	12	1	0	1	0	0	0	1	0	2	0	1	2	0	8	8	2	0	1	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr19:11546956G>T	ENST00000589838.1	+	1	18	c.18G>T	c.(16-18)ctG>ctT	p.L6L	PRKCSH_ENST00000412601.1_Silent_p.L6L|PRKCSH_ENST00000591462.1_Silent_p.L6L|PRKCSH_ENST00000587327.1_Silent_p.L6L|CCDC151_ENST00000586836.1_5'Flank|CCDC151_ENST00000591179.1_5'Flank|PRKCSH_ENST00000592741.1_Silent_p.L6L|PRKCSH_ENST00000252455.2_Silent_p.L6L|CCDC151_ENST00000545100.1_5'Flank|CCDC151_ENST00000356392.4_5'Flank			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	6					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						tgccgctgctgctgctgctAC	0.652											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L6L													.	.			0			c.G18T												28	25	26					19																	11546956		2203	4298	6501	SO:0001819	synonymous_variant	5589	exon2			GCTGCTGCTGCTG		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.18G>T	19.37:g.11546956G>T			20	0	0	673	25	0.44	11	NM_001001329	785	0.41	318	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																					0.652	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000458817.1				T	11546956	G	T	11546956	2	4	113	1	0	0	0	0	0	0	0	1	12536	1306	46	2		2	PRKCSH	19	11546956	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	1581629	11546956	47582027	80	8519											
ZNF333	84449	bcgsc.ca	37	chr19	14817526	14817526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgctatgcagattcagaGggtggtgataccagtgccta	9	9	14	9	1	1	3	1	1	0	2	1	3	1	3	3	3	3	2	3	3	3	4			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr19:14817526G>T	ENST00000292530.6	+	7	543	c.452G>T	c.(451-453)aGg>aTg	p.R151M	ZNF333_ENST00000536363.1_Missense_Mutation_p.R42M|ZNF333_ENST00000601134.1_Missense_Mutation_p.E91D|ZNF333_ENST00000540689.2_Missense_Mutation_p.R151M	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CAGATTCAGAGGGTGGTGATA	0.602																																					p.R151M	NSCLC(60;75 1281 16985 25154 29885)												.	ZNF333	76		0			c.G452T												100	93	95					19																	14817526		2203	4300	6503	SO:0001583	missense	84449	exon7			TTCAGAGGGTGGT		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.452G>T	19.37:g.14817526G>T	ENSP00000292530:p.Arg151Met		34	0	0		37	0.11	4	NM_032433	18	0	0	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449881	0.43531	.	.	ENSG00000160961	ENST00000536363;ENST00000540689;ENST00000292530	T;T;T	0.07114	3.22;5.77;3.27	2.29	2.29	0.28610	.	.	.	.	.	T	0.10165	0.0249	N	0.24115	0.695	0.09310	N	1	D	0.63046	0.992	P	0.53912	0.737	T	0.24012	-1.0172	9	0.48119	T	0.1	.	8.1747	0.31275	0.0:0.0:1.0:0.0	.	151	Q96JL9	ZN333_HUMAN	M	42;151;151	ENSP00000439749:R42M;ENSP00000438130:R151M;ENSP00000292530:R151M	ENSP00000292530:R151M	R	+	2	0	ZNF333	14678526	0.760000	0.28428	0.133000	0.22050	0.010000	0.07245	1.702000	0.37836	1.623000	0.50342	0.591000	0.81541	AGG			0.602	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466496.1		NM_032433		T	14817526	G	T	14817526	3	4	113	1	0	0	0	0	1	0	0	0	17873	1000	35	3	474	3	ZNF333	19	14817526	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	3270570	14817526	44311457	81	8520											
ERCC1	2067	ucsc.edu;bcgsc.ca	37	chr19	45918201	45918201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtaggtctccaggtacCgcccagcttcctcggggctg	4	10	12	15	2	1	0	0	0	1	0	4	0	2	0	5	4	2	4	5	4	2	4	rs534974123		TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr19:45918201C>T	ENST00000300853.3	-	7	1211	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	ERCC1_ENST00000013807.5_Missense_Mutation_p.R207Q|ERCC1_ENST00000340192.7_Missense_Mutation_p.R207Q|ERCC1_ENST00000423698.2_Missense_Mutation_p.R135Q|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000589165.1_Missense_Mutation_p.R207Q|ERCC1_ENST00000591636.1_Intron	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	207					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CTCCAGGTACCGCCCAGCTTC	0.547								Nucleotide excision repair (NER)																													p.R207Q													.	ERCC1	46		0			c.G620A												85	74	78					19																	45918201		2203	4300	6503	SO:0001583	missense	2067	exon7			AGGTACCGCCCAG		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.620G>A	19.37:g.45918201C>T	ENSP00000300853:p.Arg207Gln		57	0	0		30	0.13	4	NM_001983	369	0	0	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051042	0.93740	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	T;T;T;T	0.51325	0.78;0.71;0.86;0.75	5.21	5.21	0.72293	Restriction endonuclease, type II-like (1);	0.058451	0.64402	D	0.000001	T	0.58018	0.2093	M	0.82433	2.59	0.58432	D	0.999998	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	B;P;P;P	0.46940	0.405;0.532;0.501;0.501	T	0.67650	-0.5616	10	0.87932	D	0	-34.1949	14.6773	0.68989	0.0:1.0:0.0:0.0	.	207;135;207;207	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	Q	207;207;135;207	ENSP00000300853:R207Q;ENSP00000345203:R207Q;ENSP00000394875:R135Q;ENSP00000013807:R207Q	ENSP00000013807:R207Q	R	-	2	0	ERCC1	50610041	1.000000	0.71417	0.437000	0.26809	0.915000	0.54546	5.064000	0.64338	2.617000	0.88574	0.505000	0.49811	CGG			0.547	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459542.1		NM_001983		T	45918201	C	T	45918201	3	4	113	1	0	0	0	0	1	0	0	0	5219	652	23	1	418	1	ERCC1	19	45918201	Missense_Mutation	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	31100675	45918201	13210782	82	8521											
LIG1	3978	mdanderson.org	37	chr19	48636323	48636323	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcgctgatgccccgggtGggatgggccaacattggttt	6	10	14	11	2	0	1	0	1	0	0	1	2	0	2	4	4	2	2	4	4	1	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr19:48636323G>T	ENST00000263274.7	-	18	2060	c.1641C>A	c.(1639-1641)ccC>ccA	p.P547P	LIG1_ENST00000536218.1_Silent_p.P479P|LIG1_ENST00000427526.2_Silent_p.P516P	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	547					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|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)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGCCCCGGGTGGGATGGGCCA	0.562								Nucleotide excision repair (NER)																													p.P547P													.	.			0			c.C1641A												116	114	115					19																	48636323		2203	4300	6503	SO:0001819	synonymous_variant	3978	exon18			CCGGGTGGGATGG		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1641C>A	19.37:g.48636323G>T			77	0	0		42	0.07	3	NM_000234	111	0	0	B2RAI8|Q2TB12|Q32P23	Silent	SNP	ENST00000263274.7	37	CCDS12711.1																																																																																					0.562	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465575.1		NM_000234		T	48636323	G	T	48636323	2	4	113	1	0	0	0	0	0	0	0	1	8796	1335	47	3		3	LIG1	19	48636323	Silent	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	2718122	48636323	10492660	83	8522											
SNRPB	6628	broad.mit.edu	37	chr20	2443298	2443298	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctcgcatcccagggggAggaggccgcattcccggagg	7	6	15	13	3	0	0	0	0	0	0	3	3	2	3	4	6	1	2	4	6	1	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr20:2443298A>G	ENST00000438552.2	-	6	831	c.669T>C	c.(667-669)ccT>ccC	p.P223P	SNRPB_ENST00000381342.2_Silent_p.P223P|SNRPB_ENST00000339610.6_Silent_p.P144P|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	223	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TCCCAGGGGGAGGAGGCCGCA	0.582																																					p.P223P													.	SNRPB	29		0			c.T669C												52	55	54					20																	2443298		2195	4287	6482	SO:0001819	synonymous_variant	6628	exon6			AGGGGGAGGAGGC		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.669T>C	20.37:g.2443298A>G			125	0	0		111	0.04	4	NM_003091	592	0	1	Q15490|Q6IB35|Q9UIS5	Silent	SNP	ENST00000438552.2	37	CCDS13026.1																																																																																					0.582	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000077585.2				G	2443298	A	G	2443298	2	3	113	1	0	0	0	0	0	0	0	1	14884	291	11	4		4	SNRPB	20	2443298	Silent	SNP	A	TCGA-XE-AANI-01A-11D-A435-10		2443298	60582222	84	8523											
REM1	28954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	30064434	30064434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccagaaaccttcacctgcCccagatgattggtcttctga	10	10	7	14	0	3	4	1	2	2	2	3	4	3	4	5	1	2	0	5	1	1	3			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr20:30064434C>T	ENST00000201979.2	+	2	479	c.186C>T	c.(184-186)gcC>gcT	p.A62A	DEFB124_ENST00000481595.1_5'UTR	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	62					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTTCACCTGCCCCAGATGATT	0.602																																					p.A62A													.	.			0			c.C186T												76	71	73					20																	30064434		2203	4300	6503	SO:0001819	synonymous_variant	28954	exon2			ACCTGCCCCAGAT	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.186C>T	20.37:g.30064434C>T			131	0	0		125	0.19	24	NM_014012	8	0.25	2	E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	CCDS13181.1																																																																																					0.602	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078508.2		NM_014012		T	30064434	C	T	30064434	2	4	113	1	0	0	0	0	0	0	0	1	13245	610	22	3		3	REM1	20	30064434	Silent	SNP	C	TCGA-XE-AANI-01A-11D-A435-10	27621136	30064434	32961086	85	8524											
ZNF512B	57473	mdanderson.org	37	chr20	62595514	62595514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgggcgtcctcagggcctgGcccctcctgcttcttggagc	2	9	13	17	2	2	0	1	0	1	0	4	1	4	1	6	4	2	1	6	4	0	2			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr20:62595514G>T	ENST00000450537.1	-	8	1450	c.1390C>A	c.(1390-1392)Cca>Aca	p.P464T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P464T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P464T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	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)			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)					TCAGGGCCTGGCCCCTCCTGC	0.657																																					p.P464T													.	.			0			c.C1390A												81	87	85					20																	62595514		2203	4300	6503	SO:0001583	missense	57473	exon8			GGCCTGGCCCCTC	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.1390C>A	20.37:g.62595514G>T	ENSP00000393795:p.Pro464Thr		46	0	0		39	0.08	3	NM_020713	91	0	0	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	3.728	-0.056132	0.07362	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.21543	2.0;2.0;2.0	4.59	-4.68	0.03309	.	1.230840	0.06291	N	0.699103	T	0.11281	0.0275	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35748	-0.9776	10	0.15952	T	0.53	-0.9437	0.9303	0.01334	0.1762:0.1872:0.2763:0.3603	.	464	Q96KM6	Z512B_HUMAN	T	464	ENSP00000358904:P464T;ENSP00000393795:P464T;ENSP00000217130:P464T	ENSP00000217130:P464T	P	-	1	0	ZNF512B	62065958	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.096000	0.15147	-0.609000	0.05724	-0.373000	0.07131	CCA			0.657	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080246.1		NM_020713		T	62595514	G	T	62595514	3	4	113	1	0	0	0	0	1	0	0	0	17980	1203	42	2	1328	2	ZNF512B	20	62595514	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10	32531080	62595514	430006	86	8525											
SMC1B	27127	broad.mit.edu	37	chr22	45798264	45798264	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttagcattccatgttccTttttcctggctttaactatg	7	19	6	9	0	0	0	0	0	0	0	3	0	3	0	3	1	2	4	3	1	4	9			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr22:45798264T>C	ENST00000357450.4	-	5	802	c.803A>G	c.(802-804)aAg>aGg	p.K268R	SMC1B_ENST00000404354.3_Missense_Mutation_p.K268R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	268					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCATGTTCCTTTTTCCTGGC	0.333																																					p.K268R													.	SMC1B	215		0			c.A803G												155	131	139					22																	45798264		1858	4093	5951	SO:0001583	missense	27127	exon5			TGTTCCTTTTTCC	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.803A>G	22.37:g.45798264T>C	ENSP00000350036:p.Lys268Arg		116	0	0		109	0.03	3	NM_148674	1	0	0	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232505	0.39498	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.80738	-1.41;3.31	5.9	4.86	0.63082	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000005	T	0.78400	0.4277	L	0.61036	1.89	0.47245	D	0.999361	B;P;B	0.36110	0.329;0.537;0.314	B;B;B	0.41135	0.348;0.155;0.142	T	0.73975	-0.3813	10	0.33141	T	0.24	.	8.505	0.33181	0.1299:0.0:0.1363:0.7338	.	268;268;268	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	R	268	ENSP00000350036:K268R;ENSP00000385902:K268R	ENSP00000350036:K268R	K	-	2	0	SMC1B	44176928	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	4.574000	0.60900	1.042000	0.40150	-0.336000	0.08194	AAG			0.333	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322256.2		NM_148674		C	45798264	T	C	45798264	3	2	113	1	0	0	0	0	1	0	0	0	14805	1609	56	4	2988	4	SMC1B	22	45798264	Missense_Mutation	SNP	T	TCGA-XE-AANI-01A-11D-A435-10		45798264	5506302	87	8526											
TBC1D22A	25771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	47287258	47287258	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactattacgattctaggAacgacgaagttcaccaggac	14	8	9	10	3	2	0	1	0	1	0	2	5	2	2	1	2	3	2	1	2	5	5			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chr22:47287258A>T	ENST00000337137.4	+	6	971	c.805A>T	c.(805-807)Aac>Tac	p.N269Y	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.N222Y|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.N222Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.N210Y|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.N191Y	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	269	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGATTCTAGGAACGACGAAGT	0.433																																					p.N269Y													.	.			0			c.A805T												104	106	105					22																	47287258		2203	4300	6503	SO:0001583	missense	25771	exon6			TCTAGGAACGACG	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.805A>T	22.37:g.47287258A>T	ENSP00000336724:p.Asn269Tyr		187	0	0		155	0.19	29	NM_014346	61	0.26	16	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.338751	0.24253	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.36	4.36	0.52297	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	L	0.42245	1.32	0.47065	D	0.999303	B;B;B;B	0.31769	0.022;0.081;0.339;0.022	B;B;B;B	0.34301	0.038;0.039;0.179;0.038	T	0.17077	-1.0381	10	0.15952	T	0.53	.	11.5589	0.50766	1.0:0.0:0.0:0.0	.	269;191;210;269	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	Y	269;222;210;191;222	ENSP00000336724:N269Y;ENSP00000370383:N222Y;ENSP00000384036:N210Y;ENSP00000347932:N191Y;ENSP00000385634:N222Y	ENSP00000336724:N269Y	N	+	1	0	TBC1D22A	45665922	1.000000	0.71417	0.746000	0.31095	0.150000	0.21749	5.974000	0.70465	1.823000	0.53134	0.455000	0.32223	AAC			0.433	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317600.3		NM_014346		T	47287258	A	T	47287258	3	4	113	1	0	0	0	0	1	0	0	0	15634	246	9	5	827	5	TBC1D22A	22	47287258	Missense_Mutation	SNP	A	TCGA-XE-AANI-01A-11D-A435-10	1488994	47287258	4017308	88	8527											
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	53579361	53579361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaaatggccacggcaGaatctctggtggaagagctc	11	7	12	11	1	1	3	0	0	1	3	4	4	2	4	2	4	1	2	2	4	3	0			TCGA-XE-AANI-01A-11D-A435-10	TCGA-XE-AANI-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	be4df9d3-88c9-42ae-9752-179602eb36db	168dc95b-9014-4cb0-9d44-1e0e2d747959	g.chrX:53579361G>T	ENST00000342160.3	-	62	9249	c.8792C>A	c.(8791-8793)tCt>tAt	p.S2931Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.S2931Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2931					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						GGCCACGGCAGAATCTCTGGT	0.502																																					p.S2931Y													.	.			0			c.C8792A												57	51	53					X																	53579361		2203	4300	6503	SO:0001583	missense	10075	exon63			ACGGCAGAATCTC	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.8792C>A	X.37:g.53579361G>T	ENSP00000340648:p.Ser2931Tyr		101	0	0		149	0.38	57	NM_031407	189	0.42	79	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.583564|2.583564	0.46006|0.46006	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.37915	.|1.17;1.17	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.188650	.|0.47852	.|D	.|0.000220	T|T	0.34978|0.34978	0.0916|0.0916	N|N	0.19112|0.19112	0.55|0.55	0.32670|0.32670	N|N	0.516952|0.516952	.|P;D	.|0.54207	.|0.94;0.965	.|P;P	.|0.51135	.|0.459;0.66	T|T	0.47598|0.47598	-0.9105|-0.9105	5|10	.|0.56958	.|D	.|0.05	.|.	13.6738|13.6738	0.62440|0.62440	0.0:0.1509:0.8491:0.0|0.0:0.1509:0.8491:0.0	.|.	.|2931;2931	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	L|Y	1964|2931	.|ENSP00000340648:S2931Y;ENSP00000262854:S2931Y	.|ENSP00000262854:S2931Y	F|S	-|-	3|2	2|0	HUWE1|HUWE1	53596086|53596086	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	4.546000|4.546000	0.60705|0.60705	2.528000|2.528000	0.85240|0.85240	0.529000|0.529000	0.55759|0.55759	TTC|TCT			0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056766.1		XM_497119		T	53579361	G	T	53579361	3	4	113	1	0	0	0	0	1	0	0	0	7476	942	33	3	4420	3	HUWE1	23	53579361	Missense_Mutation	SNP	G	TCGA-XE-AANI-01A-11D-A435-10		53579361	101691199	89	8528											
SCNN1D	6339	mdanderson.org	37	chr1	1226955	1226955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcagccgaagagagctggGctgggccccagccccttgag	7	6	14	14	1	1	2	1	1	1	1	2	4	1	2	5	2	3	2	5	2	1	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr1:1226955G>T	ENST00000338555.2	+	15	3026	c.1882G>T	c.(1882-1884)Gct>Tct	p.A628S	SCNN1D_ENST00000379116.5_Missense_Mutation_p.A792S|SCNN1D_ENST00000325425.8_Missense_Mutation_p.A694S|SCNN1D_ENST00000400928.3_Missense_Mutation_p.A628S			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	628					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-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;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	AGAGAGCTGGGCTGGGCCCCA	0.662																																					p.A792S													.	.			0			c.G2374T												15	18	17					1																	1226955		2161	4230	6391	SO:0001583	missense	6339	exon18			AGCTGGGCTGGGC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1882G>T	1.37:g.1226955G>T	ENSP00000339504:p.Ala628Ser		56	0	0		42	0.07	3	NM_001130413	5	0	0	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	G	12.71	2.018812	0.35606	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.72725	-0.68;-0.47;-0.59;-0.47	3.93	0.608	0.17569	.	1.899500	0.03734	U	0.253944	T	0.60625	0.2283	N	0.24115	0.695	0.09310	N	1	P;P;P	0.51057	0.941;0.941;0.941	B;B;P	0.46172	0.429;0.429;0.506	T	0.51244	-0.8730	10	0.56958	D	0.05	.	4.0779	0.09912	0.2472:0.1921:0.5607:0.0	.	450;628;792	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	S	659;792;628;694;628	ENSP00000368411:A792S;ENSP00000339504:A628S;ENSP00000321594:A694S;ENSP00000383717:A628S	ENSP00000321594:A694S	A	+	1	0	SCNN1D	1216818	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.767000	0.04720	-0.078000	0.12730	0.484000	0.47621	GCT			0.662	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000005802.2		NM_002978		T	1226955	G	T	1226955	3	4	114	1	0	0	0	0	1	0	0	0	13952	1203	42	2	2138	2	SCNN1D	1	1226955	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		1226955	248023666	1	8529											
SKI	6497	mdanderson.org	37	chr1	2160973	2160973	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcctcatgtacccgccGcacaagttcgtggtgcactc	6	9	10	16	4	1	0	1	0	0	0	3	0	1	0	4	1	3	4	4	1	2	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr1:2160973G>T	ENST00000378536.4	+	1	840	c.768G>T	c.(766-768)ccG>ccT	p.P256P		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	256					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGTACCCGCCGCACAAGTTCG	0.662																																					p.P256P	Ovarian(177;144 1678 13697 20086 27838 40755)												.	.			0			c.G768T												29	31	31					1																	2160973		2188	4290	6478	SO:0001819	synonymous_variant	6497	exon1			CCCGCCGCACAAG	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.768G>T	1.37:g.2160973G>T			34	0	0		30	0.07	2	NM_003036	23	0	0	Q5SYT7	Silent	SNP	ENST00000378536.4	37	CCDS39.1																																																																																					0.662	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004070.1		NM_003036		T	2160973	G	T	2160973	2	4	114	1	0	0	0	0	0	0	0	1	14380	1074	38	1		1	SKI	1	2160973	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	934018	2160973	247089648	2	8530											
KCNAB2	8514	mdanderson.org	37	chr1	6142261	6142261	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcgtttcagatggcaGagcagctcatgaccttggcc	7	13	10	11	1	3	3	2	1	1	2	4	3	3	3	2	2	2	4	2	2	0	4			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr1:6142261G>T	ENST00000164247.1	+	6	772	c.208G>T	c.(208-210)Gag>Tag	p.E70*	KCNAB2_ENST00000352527.1_Nonsense_Mutation_p.E56*|KCNAB2_ENST00000341524.1_Nonsense_Mutation_p.E70*|KCNAB2_ENST00000378083.3_Nonsense_Mutation_p.E103*|KCNAB2_ENST00000378087.3_Nonsense_Mutation_p.E70*|KCNAB2_ENST00000458166.2_Nonsense_Mutation_p.E3*|KCNAB2_ENST00000378092.1_Nonsense_Mutation_p.E56*|KCNAB2_ENST00000378097.1_Nonsense_Mutation_p.E70*|KCNAB2_ENST00000602612.1_Nonsense_Mutation_p.E70*|KCNAB2_ENST00000378111.1_Nonsense_Mutation_p.E70*	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	70					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGATGGCAGAGCAGCTCAT	0.582																																					p.E103X													.	.			0			c.G307T												124	112	116					1																	6142261		2203	4300	6503	SO:0001587	stop_gained	8514	exon5			ATGGCAGAGCAGC	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.208G>T	1.37:g.6142261G>T	ENSP00000164247:p.Glu70*		64	0	0		47	0.06	3	NM_001199862	24	0	0	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Nonsense_Mutation	SNP	ENST00000164247.1	37	CCDS55.1	.	.	.	.	.	.	.	.	.	.	G	38	6.686903	0.97764	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000352527;ENST00000435937;ENST00000164247;ENST00000378083;ENST00000458166	.	.	.	5.33	5.33	0.75918	.	0.048672	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-35.5636	17.5837	0.87974	0.0:0.0:1.0:0.0	.	.	.	.	X	70;70;56;56;70;70;70;56;56;70;103;3	.	ENSP00000164247:E70X	E	+	1	0	KCNAB2	6064848	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.470000	0.90399	2.482000	0.83794	0.563000	0.77884	GAG			0.582	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000002114.3		NM_172130		T	6142261	G	T	6142261	4	4	114	1	0	0	0	0	0	1	0	0	8025	943	33	3	226	3	KCNAB2	1	6142261	Nonsense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	3981288	6142261	243108360	3	8531											
PGD	5226	broad.mit.edu	37	chr1	10464289	10464289	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcagtggtggagaggaaggGgcccggtatggcccatcgct	7	7	18	9	2	1	1	1	0	0	1	2	3	1	2	2	7	0	2	2	7	2	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr1:10464289G>T	ENST00000270776.8	+	5	440	c.402G>T	c.(400-402)ggG>ggT	p.G134G	PGD_ENST00000541529.1_Silent_p.G112G|PGD_ENST00000538557.1_Silent_p.G121G	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	134					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	GAGAGGAAGGGGCCCGGTATG	0.532																																					p.G134G													.	PGD	39		0			c.G402T												79	80	80					1																	10464289		2203	4300	6503	SO:0001819	synonymous_variant	5226	exon5			GGAAGGGGCCCGG	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.402G>T	1.37:g.10464289G>T			83	0	0		59	0.05	3	NM_002631	1353	0	0	A8K2Y9|B4DQJ8|Q9BWD8	Silent	SNP	ENST00000270776.8	37	CCDS113.1																																																																																					0.532	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005398.1		NM_002631		T	10464289	G	T	10464289	2	4	114	1	0	0	0	0	0	0	0	1	11804	1219	43	3		3	PGD	1	10464289	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	4322028	10464289	238786332	4	8532											
OSR1	130497	broad.mit.edu	37	chr2	19553461	19553461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atacaggttgggcagatggtCcgaaggcactgtgggcaggc	9	7	17	8	1	0	1	0	0	0	1	1	2	1	1	1	6	1	4	1	6	2	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr2:19553461C>G	ENST00000272223.2	-	2	450	c.106G>C	c.(106-108)Gac>Cac	p.D36H	OSR1_ENST00000536433.1_Missense_Mutation_p.D36H	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	36					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GGCAGATGGTCCGAAGGCACT	0.612																																					p.D36H													.	OSR1	29		0			c.G106C												50	47	48					2																	19553461		2203	4300	6503	SO:0001583	missense	130497	exon2			GATGGTCCGAAGG	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.106G>C	2.37:g.19553461C>G	ENSP00000272223:p.Asp36His		126	0	0		101	0.03	3	NM_145260	0		0	B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	37	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709922	0.68730	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.09163	3.01;3.01	5.8	5.8	0.92144	.	0.088190	0.85682	D	0.000000	T	0.15219	0.0367	L	0.53249	1.67	0.58432	D	0.999997	B	0.17268	0.021	B	0.21917	0.037	T	0.06588	-1.0818	9	.	.	.	-28.0171	19.699	0.96045	0.0:1.0:0.0:0.0	.	36	Q8TAX0	OSR1_HUMAN	H	36	ENSP00000272223:D36H;ENSP00000441801:D36H	.	D	-	1	0	OSR1	19416942	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.755000	0.94549	0.555000	0.69702	GAC			0.612	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000201432.2		NM_145260		G	19553461	C	G	19553461	3	3	114	1	0	0	0	0	1	0	0	0	11310	855	30	5	702	5	OSR1	2	19553461	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10		19553461	223645912	5	8533											
ASXL2	55252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	25976403	25976403	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctgtcctaatattacCtctgcccatagtagctttca	11	13	5	12	0	2	1	1	0	1	1	3	1	3	1	4	0	4	2	4	0	6	6			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr2:25976403C>T	ENST00000435504.4	-	11	1435	c.1142G>A	c.(1141-1143)aGt>aAt	p.S381N	ASXL2_ENST00000272341.4_Splice_Site_p.S121N|ASXL2_ENST00000336112.4_Splice_Site_p.S353N|ASXL2_ENST00000404843.1_Splice_Site_p.S121N			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	381					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.S381N(1)|p.S121N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAATATTACCTCTGCCCATA	0.378																																					p.S381N													ASXL2_ENST00000435504,NS,carcinoma,0,2	ASXL2_ENST00000435504	0	2	2	Substitution - Missense(2)	prostate(2)	c.G1142A												170	170	170					2																	25976403		1839	4080	5919	SO:0001630	splice_region_variant	55252	exon10			TATTACCTCTGCC			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1142+1G>A	2.37:g.25976403C>T			132	0	0		81	0.17	14	NM_018263	3	0	0	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	C	14.23	2.474405	0.43942	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18502	2.21;2.21;2.22;2.22	5.72	5.72	0.89469	.	0.099628	0.64402	D	0.000001	T	0.20251	0.0487	N	0.08118	0	0.42626	D	0.993363	P;D	0.63046	0.487;0.992	B;D	0.77557	0.203;0.99	T	0.14868	-1.0457	9	.	.	.	-4.4026	11.8544	0.52429	0.0:0.9198:0.0:0.0802	.	121;381	Q76L83-2;Q76L83	.;ASXL2_HUMAN	N	381;353;121;121	ENSP00000391447:S381N;ENSP00000337250:S353N;ENSP00000383920:S121N;ENSP00000272341:S121N	.	S	-	2	0	ASXL2	25829907	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.013000	0.49582	2.714000	0.92807	0.643000	0.83706	AGT			0.378	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000325593.3		NM_018263	Missense_Mutation	T	25976403	C	T	25976403	5	4	114	1	0	0	0	0	0	0	1	0	1067	695	24	3	3177	3	ASXL2	2	25976403	Splice_Site	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	6422942	25976403	217222970	6	8534											
ASPRV1	151516	mdanderson.org	37	chr2	70187846	70187846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctcctctatgagctcCaggtcaaactcatcttccag	8	11	8	14	0	4	1	2	1	2	0	8	1	8	1	4	2	2	1	4	2	2	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr2:70187846C>T	ENST00000320256.4	-	1	1551	c.975G>A	c.(973-975)ctG>ctA	p.L325L	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CTATGAGCTCCAGGTCAAACT	0.527																																					p.L325L													.	.			0			c.G975A												103	106	105					2																	70187846		2203	4300	6503	SO:0001819	synonymous_variant	151516	exon1			GAGCTCCAGGTCA	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.975G>A	2.37:g.70187846C>T			63	0	0		55	0.05	3	NM_152792	3	0	0		Silent	SNP	ENST00000320256.4	37	CCDS1897.1																																																																																					0.527	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334161.1		NM_152792		T	70187846	C	T	70187846	2	4	114	1	0	0	0	0	0	0	0	1	1058	581	21	3		3	ASPRV1	2	70187846	Silent	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	44211443	70187846	173011527	7	8535											
RGPD4	285190	hgsc.bcm.edu;broad.mit.edu	37	chr2	108488726	108488726	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtttgcaaaatatgaaaggGacagaaagagtatgggtgtg	16	9	14	2	0	0	3	0	1	0	2	0	4	0	4	0	2	1	3	0	2	6	3			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr2:108488726G>T	ENST00000408999.3	+	20	4343	c.4266G>T	c.(4264-4266)ggG>ggT	p.G1422G	RGPD4_ENST00000354986.4_Silent_p.G1422G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1422	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATATGAAAGGGACAGAAAGAG	0.378																																					p.G1422G													RGPD4,right_upper_lobe,carcinoma,+2,1	RGPD4	2	1	0			c.G4266T												9	6	7					2																	108488726		675	1499	2174	SO:0001819	synonymous_variant	285190	exon20			GAAAGGGACAGAA	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.4266G>T	2.37:g.108488726G>T			128	0	0		91	0.21	19	NM_182588	0		0	B9A029	Silent	SNP	ENST00000408999.3	37	CCDS46381.1																																																																																					0.378	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330096.2		XM_496581		T	108488726	G	T	108488726	2	4	114	1	0	0	0	0	0	0	0	1	13311	1161	41	3		3	RGPD4	2	108488726	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	38300880	108488726	134710647	8	8536											
STAT1	6772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	191843624	191843624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccatgtgaatgtgatggCcccttcccgggagctctcac	7	9	10	15	1	1	2	1	2	1	0	3	3	2	3	4	2	1	1	4	2	1	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr2:191843624C>T	ENST00000361099.3	-	21	2218	c.1831G>A	c.(1831-1833)Gcc>Acc	p.A611T	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.A611T|STAT1_ENST00000392323.2_Missense_Mutation_p.A613T|STAT1_ENST00000392322.3_Missense_Mutation_p.A611T	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	611	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			AATGTGATGGCCCCTTCCCGG	0.592																																					p.A611T													.	.			0			c.G1831A												55	47	49					2																	191843624		2203	4300	6503	SO:0001583	missense	6772	exon21			TGATGGCCCCTTC		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.1831G>A	2.37:g.191843624C>T	ENSP00000354394:p.Ala611Thr		88	0	0		66	0.23	15	NM_007315	227	0.01	3	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	37	6.174121	0.97348	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.22	5.22	0.72569	SH2 motif (4);	0.091688	0.85682	D	0.000000	D	0.93723	0.7994	M	0.71581	2.175	0.80722	D	1	D;D	0.63880	0.982;0.993	P;D	0.63597	0.861;0.916	D	0.93903	0.7190	10	0.87932	D	0	-25.1458	19.3296	0.94280	0.0:1.0:0.0:0.0	.	611;611	P42224-2;P42224	.;STAT1_HUMAN	T	611;611;611;613	ENSP00000354394:A611T;ENSP00000386244:A611T;ENSP00000376136:A611T;ENSP00000376137:A613T	ENSP00000354394:A611T	A	-	1	0	STAT1	191551869	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.617000	0.83032	2.873000	0.98535	0.563000	0.77884	GCC			0.592	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255997.3		NM_007315		T	191843624	C	T	191843624	3	4	114	1	0	0	0	0	1	0	0	0	15287	739	26	2	445	2	STAT1	2	191843624	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	83354898	191843624	51355749	9	8537											
GAL3ST2	64090	mdanderson.org	37	chr2	242738496	242738496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatacttccgggtcatcCtcctcctcctcctggccctg	5	11	7	18	1	1	1	1	0	0	1	7	1	7	1	7	2	1	0	7	2	1	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr2:242738496C>A	ENST00000192314.6	+	2	177	c.46C>A	c.(46-48)Ctc>Atc	p.L16I	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	16					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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)		CCGGGTCATCCTCCTCCTCCT	0.637																																					p.L16I													GAL3ST2,NS,carcinoma,0,1	GAL3ST2	0	1	1	Substitution - Missense(1)	prostate(1)	c.C46A												100	89	93					2																	242738496		2203	4300	6503	SO:0001583	missense	64090	exon2			GTCATCCTCCTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.46C>A	2.37:g.242738496C>A	ENSP00000192314:p.Leu16Ile		68	0	0		61	0.07	4	NM_022134	0		0	Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	C	6.106	0.387881	0.11581	.	.	ENSG00000154252	ENST00000192314	T	0.15017	2.46	0.235	0.235	0.15431	.	2.330970	0.02268	N	0.068157	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.24799	-1.0150	9	0.23302	T	0.38	.	.	.	.	.	16	Q9H3Q3	G3ST2_HUMAN	I	16	ENSP00000192314:L16I	ENSP00000192314:L16I	L	+	1	0	GAL3ST2	242387169	0.001000	0.12720	0.003000	0.11579	0.397000	0.30659	-0.008000	0.12788	0.308000	0.22923	0.313000	0.20887	CTC			0.637	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322792.1		NM_022134		A	242738496	C	A	242738496	3	1	114	1	0	0	0	0	1	0	0	0	6212	681	24	3	52	3	GAL3ST2	2	242738496	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	50894872	242738496	460877	10	8538											
KLHL18	23276	mdanderson.org	37	chr3	47374795	47374795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacctggtgcgttgctGccacaaatgcaggtgagtga	9	9	15	8	1	0	3	0	3	0	0	0	4	0	4	2	3	4	3	2	3	1	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr3:47374795G>T	ENST00000232766.5	+	5	769	c.749G>T	c.(748-750)tGc>tTc	p.C250F	KLHL18_ENST00000455924.2_Missense_Mutation_p.C138F	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	250										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GTGCGTTGCTGCCACAAATGC	0.572																																					p.C250F													.	.			0			c.G749T												58	48	51					3																	47374795		2203	4300	6503	SO:0001583	missense	23276	exon5			GTTGCTGCCACAA	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.749G>T	3.37:g.47374795G>T	ENSP00000232766:p.Cys250Phe		56	0	0		43	0.07	3	NM_025010	52	0	0	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280461	0.59758	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.74632	-0.71;-0.86	5.31	5.31	0.75309	.	0.145067	0.64402	D	0.000008	T	0.69115	0.3075	L	0.58101	1.795	0.80722	D	1	P;B;B	0.40970	0.734;0.213;0.402	B;B;B	0.32805	0.153;0.068;0.105	T	0.74968	-0.3483	10	0.66056	D	0.02	.	16.2818	0.82694	0.0:0.0:1.0:0.0	.	101;250;185	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	F	250;138	ENSP00000232766:C250F;ENSP00000405585:C138F	ENSP00000232766:C250F	C	+	2	0	KLHL18	47349799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.537000	0.82033	2.768000	0.95171	0.561000	0.74099	TGC			0.572	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344493.1		NM_025010		T	47374795	G	T	47374795	3	4	114	1	0	0	0	0	1	0	0	0	8388	1319	46	2	767	2	KLHL18	3	47374795	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		47374795	150647635	11	8539											
NCKIPSD	51517	mdanderson.org	37	chr3	48719045	48719045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggagggggctggacttggGacacggtggtgtgggtgcct	5	8	22	6	1	0	0	0	0	0	0	0	3	0	3	1	8	1	1	1	8	0	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr3:48719045G>T	ENST00000294129.2	-	5	886	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.S256Y|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.S249Y	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	256	Pro-rich.				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)		CTGGACTTGGGACACGGTGGT	0.627																																					p.S256Y													.	.			0			c.C767A												43	45	44					3																	48719045		2203	4300	6503	SO:0001583	missense	51517	exon5			ACTTGGGACACGG	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.767C>A	3.37:g.48719045G>T	ENSP00000294129:p.Ser256Tyr		86	0	0		71	0.06	4	NM_016453	127	0	0	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056178	0.55325	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.50277	0.75;1.36;1.35;1.33	5.27	4.36	0.52297	.	0.386006	0.23537	U	0.047115	T	0.51924	0.1703	L	0.29908	0.895	0.40299	D	0.978586	D;D;D	0.67145	0.996;0.976;0.986	P;P;P	0.57548	0.823;0.656;0.814	T	0.57670	-0.7771	10	0.62326	D	0.03	.	15.9358	0.79707	0.0:0.1348:0.8652:0.0	.	256;256;249	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	Y	256;249;256;256;178;140	ENSP00000342621:S256Y;ENSP00000389059:S249Y;ENSP00000294129:S256Y;ENSP00000409675:S256Y	ENSP00000294129:S256Y	S	-	2	0	NCKIPSD	48694049	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	6.849000	0.75414	2.442000	0.82660	0.563000	0.77884	TCC			0.627	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257520.1		NM_016453		T	48719045	G	T	48719045	3	4	114	1	0	0	0	0	1	0	0	0	10242	1174	41	3	1437	3	NCKIPSD	3	48719045	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	1344250	48719045	149303385	12	8540											
MCM2	4171	broad.mit.edu	37	chr3	127323901	127323901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcatggcgggcccccGgctggagatccaccaccgct	6	5	15	15	3	0	2	0	1	0	1	1	3	1	2	5	5	1	3	5	5	0	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr3:127323901G>A	ENST00000265056.7	+	4	819	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	192	Interaction with KAT7. {ECO:0000250}.				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						GCGGGCCCCCGGCTGGAGATC	0.612																																					p.R192Q													.	MCM2	79		0			c.G575A												71	74	73					3																	127323901		2203	4300	6503	SO:0001583	missense	4171	exon4			GCCCCCGGCTGGA	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.575G>A	3.37:g.127323901G>A	ENSP00000265056:p.Arg192Gln		181	0.0055248619	1		161	0.02	4	NM_004526	165	0.01	2	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358124|4.358124	0.82243|0.82243	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.02395	.|4.31	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.061993	.|0.64402	.|D	.|0.000003	T|T	0.14270|0.14270	0.0345|0.0345	M|M	0.65677|0.65677	2.01|2.01	0.80722|0.80722	D|D	1|1	.|D;B;P	.|0.76494	.|0.999;0.265;0.65	.|D;B;B	.|0.77557	.|0.99;0.047;0.097	T|T	0.00920|0.00920	-1.1514|-1.1514	5|10	.|0.40728	.|T	.|0.16	-28.5698|-28.5698	18.6857|18.6857	0.91563|0.91563	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|173;62;192	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	S|Q	55|192;96;173	.|ENSP00000265056:R192Q	.|ENSP00000265056:R192Q	G|R	+|+	1|2	0|0	MCM2|MCM2	128806591|128806591	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	9.835000|9.835000	0.99442|0.99442	2.406000|2.406000	0.81754|0.81754	0.591000|0.591000	0.81541|0.81541	GGC|CGG			0.612	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356612.1				A	127323901	G	A	127323901	3	1	114	1	0	0	0	0	1	0	0	0	9402	1116	39	1	589	1	MCM2	3	127323901	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	78604856	127323901	70698529	13	8541											
TRH	7200	mdanderson.org	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					p.E170E	Esophageal Squamous(60;321 1330 17401 41911)												TRH,right_upper_lobe,carcinoma,0,2	TRH	0	2	1	Substitution - coding silent(1)	prostate(1)	c.G510A												33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200	exon3			AGAAGAGGAGGAG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A			73	0	0		52	0.06	3	NM_007117	33	0	0	B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	CCDS3066.1																																																																																					0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000356592.1		NM_007117		A	129695840	G	A	129695840	2	1	114	1	0	0	0	0	0	0	0	1	16502	991	35	3		3	TRH	3	129695840	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	2371939	129695840	68326590	14	8542											
CHST2	9435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	142840363	142840363	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgtcttccagttgtatagCcccgcgggcagcggggggcg	4	9	16	12	4	2	0	0	0	2	0	3	0	3	0	3	4	2	3	3	4	2	4			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr3:142840363C>T	ENST00000309575.3	+	2	2089	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	235					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						AGTTGTATAGCCCCGCGGGCA	0.652																																					p.S235S													.	.			0			c.C705T												29	37	34					3																	142840363		2200	4298	6498	SO:0001819	synonymous_variant	9435	exon2			GTATAGCCCCGCG	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.705C>T	3.37:g.142840363C>T			111	0	0		93	0.22	20	NM_004267	282	0.32	89	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	CCDS3129.1																																																																																					0.652	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354850.1		NM_004267		T	142840363	C	T	142840363	2	4	114	1	0	0	0	0	0	0	0	1	3406	738	26	2		2	CHST2	3	142840363	Silent	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	13144523	142840363	55182067	15	8543											
DCUN1D1	54165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	182665069	182665069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgcaatcatcgtactGaagtctaaaagaagattcca	15	11	6	9	1	4	3	2	1	2	2	6	3	5	3	1	0	2	2	1	0	6	3			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr3:182665069G>T	ENST00000292782.4	-	6	810	c.657C>A	c.(655-657)ttC>ttA	p.F219L	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.F204L	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	219	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCATCGTACTGAAGTCTAAAA	0.308																																					p.F219L													.	.			0			c.C657A												157	153	154					3																	182665069		2203	4297	6500	SO:0001583	missense	54165	exon6			CGTACTGAAGTCT	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"squamous cell carcinoma related oncogene"	605905	"DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.657C>A	3.37:g.182665069G>T	ENSP00000292782:p.Phe219Leu		82	0	0		184	0.1	18	NM_020640	272	0.12	33	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314794	0.81358	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954	.	.	.	5.53	5.53	0.82687	Domain of unknown function DUF298 (2);	0.046406	0.85682	D	0.000000	T	0.81945	0.4930	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84976	0.0885	9	0.66056	D	0.02	-12.7315	13.1928	0.59722	0.0824:0.0:0.9175:0.0	.	219	Q96GG9	DCNL1_HUMAN	L	219;179;204	.	ENSP00000292782:F219L	F	-	3	2	DCUN1D1	184147763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.389000	0.59639	2.579000	0.87056	0.563000	0.77884	TTC			0.308	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350658.1		NM_020640		T	182665069	G	T	182665069	3	4	114	1	0	0	0	0	1	0	0	0	4315	1281	45	3	130	3	DCUN1D1	3	182665069	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	39824706	182665069	15357361	16	8544											
LRRC33	375387	broad.mit.edu	37	chr3	196386681	196386681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtgcccagcagcctccCgccccacgcccggatgctca	5	6	10	20	4	1	0	1	0	0	0	3	1	2	1	6	2	4	2	6	2	0	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr3:196386681C>T	ENST00000328557.4	+	3	370	c.167C>T	c.(166-168)cCg>cTg	p.P56L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	56					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)											AGCAGCCTCCCGCCCCACGCC	0.672																																					p.P56L													LRRC33,NS,carcinoma,-1,1	LRRC33	91	1	0			c.C167T												51	45	47					3																	196386681		2203	4299	6502	SO:0001583	missense	375387	exon3			GCCTCCCGCCCCA	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.167C>T	3.37:g.196386681C>T	ENSP00000328625:p.Pro56Leu		227	0	0		427	0.02	7	NM_198565	47	0	0		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369565	0.42003	.	.	ENSG00000174004	ENST00000328557	T	0.58358	0.34	6.07	6.07	0.98685	.	0.110695	0.64402	D	0.000007	T	0.63450	0.2512	M	0.66939	2.045	0.80722	D	1	D	0.63046	0.992	P	0.53988	0.739	T	0.66296	-0.5959	10	0.87932	D	0	.	13.2539	0.60068	0.1252:0.7541:0.1207:0.0	.	56	Q86YC3	LRC33_HUMAN	L	56	ENSP00000328625:P56L	ENSP00000328625:P56L	P	+	2	0	LRRC33	197871078	0.458000	0.25760	0.981000	0.43875	0.696000	0.40369	1.969000	0.40510	2.884000	0.98904	0.655000	0.94253	CCG			0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340676.1		NM_198565		T	196386681	C	T	196386681	3	4	114	1	0	0	0	0	1	0	0	0	9004	652	23	1	173	1	LRRC33	3	196386681	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	13721612	196386681	1635749	17	8545											
MEF2C	4208	broad.mit.edu	37	chr5	88024334	88024334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgactgagggcagatggtGgcatgttatgtaggtgttgc	8	12	16	5	0	0	3	0	2	0	1	0	3	0	3	0	4	1	5	0	4	2	3	rs17852408		TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr5:88024334G>T	ENST00000437473.2	-	10	1493	c.1076C>A	c.(1075-1077)cCa>cAa	p.P359Q	MEF2C_ENST00000508569.1_Missense_Mutation_p.P351Q|MEF2C_ENST00000340208.5_Missense_Mutation_p.P369Q|MEF2C_ENST00000506554.1_Missense_Mutation_p.P359Q|MEF2C_ENST00000539796.1_Missense_Mutation_p.P303Q|MEF2C_ENST00000514015.1_Missense_Mutation_p.P359Q|MEF2C_ENST00000424173.2_Missense_Mutation_p.P349Q|MEF2C_ENST00000514028.1_Missense_Mutation_p.P359Q|MEF2C_ENST00000510942.1_Missense_Mutation_p.P351Q|MEF2C_ENST00000504921.2_Missense_Mutation_p.P359Q	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	359					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)		GGCAGATGGTGGCATGTTATG	0.403										HNSCC(66;0.2)																											p.P369Q													.	MEF2C	184		0			c.C1106A												53	49	51					5																	88024334		1735	3711	5446	SO:0001583	missense	4208	exon11			GATGGTGGCATGT	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.1076C>A	5.37:g.88024334G>T	ENSP00000396219:p.Pro359Gln		328	0	0		247	0.02	4	NM_001193347	1	0	0	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330221	0.41297	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.66815	0.29;0.3;0.3;0.3;0.3;0.29;-0.23;-0.02;-0.01;0.69	5.76	5.76	0.90799	.	0.099135	0.64402	D	0.000001	T	0.36496	0.0969	N	0.00436	-1.5	0.54753	D	0.999987	B;B;B;B	0.28584	0.0;0.216;0.003;0.203	B;B;B;B	0.27887	0.001;0.084;0.002;0.061	T	0.46428	-0.9192	10	0.21540	T	0.41	-5.1028	20.3431	0.98773	0.0:0.0:1.0:0.0	rs17852408	349;369;359;351	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	Q	369;349;359;359;359;351;359;351;359;303	ENSP00000340874:P369Q;ENSP00000389610:P349Q;ENSP00000421925:P359Q;ENSP00000426665:P359Q;ENSP00000396219:P359Q;ENSP00000422390:P351Q;ENSP00000425636:P359Q;ENSP00000423597:P351Q;ENSP00000424606:P359Q;ENSP00000441153:P303Q	ENSP00000340874:P369Q	P	-	2	0	MEF2C	88060090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.962000	0.76048	2.880000	0.98712	0.650000	0.86243	CCA			0.403	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000369817.1		NM_002397		T	88024334	G	T	88024334	3	4	114	1	0	0	0	0	1	0	0	0	9473	1348	47	3	353	3	MEF2C	5	88024334	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		88024334	92890926	18	8546											
ANKHD1	54882	hgsc.bcm.edu	37	chr5	139887489	139887489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaaatagagaccaatcGgaacacggctctcaccctgg	12	6	9	14	2	1	1	1	0	1	1	3	3	1	2	3	3	2	1	3	3	4	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr5:139887489G>T	ENST00000360839.2	+	20	3825	c.3671G>T	c.(3670-3672)cGg>cTg	p.R1224L	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1224L|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R1224L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1224						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACCAATCGGAACACGGCT	0.483																																					p.R1224L													ANKHD1_ENST00000261805,colon,carcinoma,+1,3	ANKHD1_ENST00000261805	1	3	0			c.G3671T												101	93	96					5																	139887489		2203	4300	6503	SO:0001583	missense	54882	exon20			CCAATCGGAACAC	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3671G>T	5.37:g.139887489G>T	ENSP00000354085:p.Arg1224Leu		145	0	0		115	0.04	5	NM_017747	57	0	0	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.691716|5.691716	0.96793|0.96793	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000246149|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	.|T;T;T;T;T	.|0.15603	.|2.41;2.41;2.41;2.41;2.41	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.39064	.|0.1064	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.998;0.999;0.999	.|D;D;D;D;D	.|0.85130	.|0.993;0.989;0.96;0.997;0.997	.|T	.|0.02654	.|-1.1128	.|10	.|0.62326	.|D	.|0.03	.|.	20.2504|20.2504	0.98404|0.98404	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|435;1224;1243;1224;1224	.|E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.|.;.;.;.;ANKH1_HUMAN	X|L	450|1224;1257;1224;1224;758;435;1243;377;1224	.|ENSP00000354085:R1224L;ENSP00000297183:R1224L;ENSP00000394489:R1243L;ENSP00000405602:R377L;ENSP00000432016:R1224L	.|ENSP00000432016:R1224L	G|R	+|+	1|2	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139867673|139867673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.865000|9.865000	0.99609|0.99609	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GGA|CGG			0.483	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000251672.1		NM_017747		T	139887489	G	T	139887489	3	4	114	1	0	0	0	0	1	0	0	0	628	1116	39	1	3855	1	ANKHD1	5	139887489	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	51863155	139887489	41027771	19	8547											
PCDHA6	56142	broad.mit.edu	37	chr5	140209500	140209500	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctacaacgcgtggctttcGtatgagctgcagcccccggc	6	8	13	14	4	0	1	0	1	0	0	1	1	0	1	2	3	5	5	2	3	3	3			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr5:140209500G>T	ENST00000529310.1	+	1	1938	c.1824G>T	c.(1822-1824)tcG>tcT	p.S608S	PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	608	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)	p.S608S(2)		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)			CGTGGCTTTCGTATGAGCTGC	0.657																																					p.S608S													PCDHA6_ENST00000529310,NS,carcinoma,+1,6	PCDHA6	442	6	2	Substitution - coding silent(2)	endometrium(2)	c.G1824T												81	82	82					5																	140209500		2203	4300	6503	SO:0001819	synonymous_variant	0	exon1			GCTTTCGTATGAG	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.1824G>T	5.37:g.140209500G>T			76	0	0		57	0.05	3	NM_018909	0		0	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																					0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372829.3		NM_018909		T	140209500	G	T	140209500	2	4	114	1	0	0	0	0	0	0	0	1	11545	1132	40	1		1	PCDHA6	5	140209500	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	322011	140209500	40705760	20	8548											
PTK7	5754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43100169	43100169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgcagagattgaagaCatgccgctatttgagccacg	10	10	11	10	2	0	4	0	2	0	2	1	5	1	4	3	0	3	2	3	0	2	4			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr6:43100169C>T	ENST00000230419.4	+	7	1193	c.972C>T	c.(970-972)gaC>gaT	p.D324D	PTK7_ENST00000481273.1_Silent_p.D332D|PTK7_ENST00000349241.2_Silent_p.D324D|PTK7_ENST00000352931.2_Silent_p.D324D|PTK7_ENST00000471863.1_Silent_p.D324D|PTK7_ENST00000345201.2_Silent_p.D324D	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	324	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGATTGAAGACATGCCGCTAT	0.567																																					p.D332D													.	.			0			c.C996T												90	96	94					6																	43100169		2203	4300	6503	SO:0001819	synonymous_variant	5754	exon7			TGAAGACATGCCG	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.972C>T	6.37:g.43100169C>T			123	0	0		128	0.21	27	NM_001270398	168	0.36	61	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	CCDS4884.1																																																																																					0.567	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040580.2				T	43100169	C	T	43100169	2	4	114	1	0	0	0	0	0	0	0	1	12786	477	17	3		3	PTK7	6	43100169	Silent	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10		43100169	128014898	21	8549											
PHKG1	5260	mdanderson.org	37	chr7	56149324	56149324	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatcaggacgcttagtaccTtgaacttcccccgggggctg	7	9	13	12	2	1	1	1	1	0	0	2	3	2	3	3	4	2	3	3	4	3	4			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr7:56149324T>A	ENST00000297373.2	-	9	1111	c.917A>T	c.(916-918)aAg>aTg	p.K306M	PHKG1_ENST00000489604.1_5'Flank|PHKG1_ENST00000537360.1_Splice_Site_p.K252M|PHKG1_ENST00000452681.2_Splice_Site_p.K338M	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	306	Calmodulin-binding (domain-N).				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTAGTACCTTGAACTTCCC	0.597																																					p.K338M	Melanoma(184;580 2064 5329 24177 35303)												.	.			0			c.A1013T												42	46	44					7																	56149324		2203	4300	6503	SO:0001630	splice_region_variant	5260	exon10			AGTACCTTGAACT	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.918+1A>T	7.37:g.56149324T>A			50	0	0		21	0.1	2	NM_001258459	1	0	0	B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800684	0.50315	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373	T;T;T	0.32272	1.46;1.46;1.46	4.58	4.58	0.56647	Protein kinase-like domain (1);	0.087475	0.47852	D	0.000219	T	0.52435	0.1734	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.76494	0.998;0.996;0.999;0.994	D;D;D;P	0.64237	0.923;0.91;0.919;0.861	T	0.58763	-0.7579	10	0.87932	D	0	-22.8931	13.4537	0.61187	0.0:0.0:0.0:1.0	.	252;297;338;306	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	M	338;252;306	ENSP00000445440:K338M;ENSP00000441528:K252M;ENSP00000297373:K306M	ENSP00000297373:K306M	K	-	2	0	PHKG1	56116818	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	4.267000	0.58877	1.846000	0.53633	0.260000	0.18958	AAG			0.597	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251587.1		NM_006213	Missense_Mutation	A	56149324	T	A	56149324	5	1	114	1	0	0	0	0	0	0	1	0	11863	1623	56	5	254	5	PHKG1	7	56149324	Splice_Site	SNP	T	TCGA-XE-AANJ-01A-11D-A435-10		56149324	102989339	22	8550											
KIAA1549	57670	mdanderson.org	37	chr7	138555928	138555928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgattttattgctttccGccactcggtcggctggggag	4	15	13	9	3	0	1	0	1	0	0	3	2	1	2	2	4	1	3	2	4	1	5			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr7:138555928G>T	ENST00000422774.1	-	13	4574	c.4526C>A	c.(4525-4527)gCg>gAg	p.A1509E	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1459E|KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1509E			Q9HCM3	K1549_HUMAN	KIAA1549	1509						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATTGCTTTCCGCCACTCGGTC	0.547			O	BRAF	pilocytic astrocytoma																																p.A1509E	NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	.	.			0			c.C4526A												24	30	28					7																	138555928		1906	4108	6014	SO:0001583	missense	57670	exon13			CTTTCCGCCACTC		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.4526C>A	7.37:g.138555928G>T	ENSP00000416040:p.Ala1509Glu		24	0	0		33	0.09	3	NM_001164665	24	0	0	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248711	0.80024	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25414	1.8;1.81;1.81	5.06	5.06	0.68205	.	0.113229	0.64402	D	0.000015	T	0.44074	0.1276	L	0.41236	1.265	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.997;0.957;0.996;0.957	T	0.31392	-0.9945	10	0.62326	D	0.03	.	17.596	0.88012	0.0:0.0:1.0:0.0	.	1509;293;1509;293	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	E	1509;1459;1509	ENSP00000406661:A1509E;ENSP00000242365:A1459E;ENSP00000416040:A1509E	ENSP00000242365:A1459E	A	-	2	0	KIAA1549	138206468	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.457000	0.80775	2.619000	0.88677	0.655000	0.94253	GCG			0.547	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000348092.1				T	138555928	G	T	138555928	3	4	114	1	0	0	0	0	1	0	0	0	8259	1087	38	1	1358	1	KIAA1549	7	138555928	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	82406604	138555928	20582735	23	8551											
SSPO	23145	mdanderson.org	37	chr7	149500591	149500591	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccccggggctccttctGcatgacactcgctgcctgcc	3	10	10	18	2	1	1	0	1	1	0	4	1	3	1	5	2	3	3	5	2	0	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr7:149500591G>T	ENST00000378016.2	+	0	7992							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)			GGCTCCTTCTGCATGACACTC	0.662																																					p.L2664L													.	.			0			c.G7992T												25	29	28					7																	149500591		2049	4191	6240			23145	exon54			CCTTCTGCATGAC	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.149500591G>T			104	0	0		44	0.09	4	NM_198455	0		0	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																						0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						T	149500591	G	T	149500591	1	4	114	0	1	0	0	0	0	0	0	0	15212	1306	46	2		2	SSPO	7	149500591	RNA	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	10944663	149500591	9638072	24	8552											
DENND3	22898	mdanderson.org	37	chr8	142200511	142200511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcacggcggccgcctgtGgtgctgtaagtccggcccct	4	8	14	15	4	0	0	0	0	0	0	1	0	1	0	5	4	2	3	5	4	1	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr8:142200511G>T	ENST00000262585.2	+	20	3412	c.3134G>T	c.(3133-3135)tGg>tTg	p.W1045L	DENND3_ENST00000424248.1_Missense_Mutation_p.W993L|DENND3_ENST00000519811.1_Missense_Mutation_p.W1125L|DENND3_ENST00000523308.1_Missense_Mutation_p.W95L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1045					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCCTGTGGTGCTGTAAG	0.617																																					p.W1045L													.	.			0			c.G3134T												32	32	32					8																	142200511		2202	4296	6498	SO:0001583	missense	22898	exon20			GCCTGTGGTGCTG	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.3134G>T	8.37:g.142200511G>T	ENSP00000262585:p.Trp1045Leu		49	0	0		34	0.09	3	NM_014957	24	0	0	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064107	0.36373	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523308	T;T;T;T	0.29917	1.81;1.81;1.81;1.55	5.31	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.236010	0.47093	D	0.000244	T	0.46308	0.1386	L	0.58669	1.825	0.45914	D	0.998758	P;D;B	0.61697	0.476;0.99;0.284	B;P;B	0.59546	0.085;0.859;0.059	T	0.40794	-0.9544	10	0.48119	T	0.1	-18.6785	13.2451	0.60018	0.0:0.0:0.7123:0.2877	.	1125;95;1045	E9PF32;A2RUS2-3;A2RUS2	.;.;DEND3_HUMAN	L	1045;993;1125;95	ENSP00000262585:W1045L;ENSP00000410594:W993L;ENSP00000428714:W1125L;ENSP00000430912:W95L	ENSP00000262585:W1045L	W	+	2	0	DENND3	142269693	1.000000	0.71417	0.993000	0.49108	0.272000	0.26649	5.570000	0.67398	1.206000	0.43276	0.313000	0.20887	TGG			0.617	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_014957		T	142200511	G	T	142200511	3	4	114	1	0	0	0	0	1	0	0	0	4437	1357	47	3	3208	3	DENND3	8	142200511	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		142200511	4163511	25	8553											
ADCK5	203054	mdanderson.org	37	chr8	145616415	145616415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccagccaattgctgccGccagcctggcacaggtgcac	9	6	10	16	1	0	0	0	0	0	0	0	0	0	0	5	2	6	3	5	2	2	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr8:145616415G>T	ENST00000308860.6	+	6	669	c.625G>T	c.(625-627)Gcc>Tcc	p.A209S	CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	209	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AATTGCTGCCGCCAGCCTGGC	0.612																																					p.A209S													.	.			0			c.G625T												58	59	59					8																	145616415		2203	4300	6503	SO:0001583	missense	203054	exon6			GCTGCCGCCAGCC	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.625G>T	8.37:g.145616415G>T	ENSP00000310547:p.Ala209Ser		61	0	0		50	0.06	3	NM_174922	75	0.01	1	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688983	0.88735	.	.	ENSG00000173137	ENST00000308860	T	0.74421	-0.84	5.19	5.19	0.71726	ABC-1 (1);Protein kinase-like domain (1);	0.062767	0.64402	D	0.000007	D	0.91637	0.7357	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94502	0.7710	10	0.87932	D	0	-27.3753	14.196	0.65672	0.0:0.0:1.0:0.0	.	209	Q3MIX3	ADCK5_HUMAN	S	209	ENSP00000310547:A209S	ENSP00000310547:A209S	A	+	1	0	ADCK5	145587223	1.000000	0.71417	0.382000	0.26119	0.939000	0.58152	8.679000	0.91220	2.419000	0.82065	0.462000	0.41574	GCC			0.612	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382556.2		NM_174922		T	145616415	G	T	145616415	3	4	114	1	0	0	0	0	1	0	0	0	291	1087	38	1	647	1	ADCK5	8	145616415	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	3415904	145616415	747607	26	8554											
ZNF462	58499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	109689998	109689998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagcactcaaatgtaggCagtgctcatatacctccccc	10	9	7	15	1	2	0	2	0	0	0	4	1	4	0	4	1	3	4	4	1	4	3			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr9:109689998C>A	ENST00000277225.5	+	3	4094	c.3805C>A	c.(3805-3807)Cag>Aag	p.Q1269K	ZNF462_ENST00000441147.2_Missense_Mutation_p.Q114K|ZNF462_ENST00000457913.1_Missense_Mutation_p.Q1269K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1269					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						CAAATGTAGGCAGTGCTCATA	0.542																																					p.Q1269K													.	.			0			c.C3805A												188	192	191					9																	109689998		2203	4300	6503	SO:0001583	missense	58499	exon3			TGTAGGCAGTGCT	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.3805C>A	9.37:g.109689998C>A	ENSP00000277225:p.Gln1269Lys		60	0	0		80	0.71	57	NM_021224	3	1	3	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500489	0.85176	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.04970	3.52;3.95;4.08;4.09	5.35	4.44	0.53790	Zinc finger, C2H2-like (1);	0.108965	0.64402	D	0.000004	T	0.07548	0.0190	L	0.27053	0.805	0.80722	D	1	P;B	0.42941	0.794;0.089	B;B	0.42995	0.404;0.06	T	0.21586	-1.0241	10	0.62326	D	0.03	.	15.3533	0.74405	0.1408:0.8592:0.0:0.0	.	1269;1269	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	1269;1269;152;114	ENSP00000277225:Q1269K;ENSP00000414570:Q1269K;ENSP00000363818:Q152K;ENSP00000397306:Q114K	ENSP00000277225:Q1269K	Q	+	1	0	ZNF462	108729819	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.383000	0.79741	1.224000	0.43551	0.555000	0.69702	CAG			0.542	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000053532.2		NM_021224		A	109689998	C	A	109689998	3	1	114	1	0	0	0	0	1	0	0	0	17949	711	25	2	3811	2	ZNF462	9	109689998	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10		109689998	31523433	27	8555											
C9orf5	23731	mdanderson.org	37	chr9	111881924	111881924	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggggtgcagaaaagtgccGcatagcacggcccagagcag	13	3	15	10	2	0	2	0	0	0	2	0	2	0	2	2	3	4	4	2	3	4	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr9:111881924G>A	ENST00000374586.3	-	1	301	c.270C>T	c.(268-270)tgC>tgT	p.C90C		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	90						integral component of membrane (GO:0016021)											GAAAAGTGCCGCATAGCACGG	0.711																																					p.C90C													.	.			0			c.C270T												12	21	18					9																	111881924		2043	4167	6210	SO:0001819	synonymous_variant	23731	exon1			AGTGCCGCATAGC	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.270C>T	9.37:g.111881924G>A			36	0	0		42	0.07	3	NM_032012	17	0	0	B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	37	CCDS43858.1																																																																																					0.711	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053587.2		NM_032012		A	111881924	G	A	111881924	2	1	114	1	0	0	0	0	0	0	0	1	2488	1079	38	1		1	C9orf5	9	111881924	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	2191926	111881924	29331507	28	8556											
SLC34A3	142680	mdanderson.org	37	chr9	140128920	140128920	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggccgtcctcgcgggCgccggcctgaccttcgcact	3	8	12	18	6	0	1	0	1	0	0	3	1	1	1	6	3	1	1	6	3	1	2	rs565479962		TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr9:140128920C>A	ENST00000538474.1	+	11	1370	c.1146C>A	c.(1144-1146)ggC>ggA	p.G382G	SLC34A3_ENST00000361134.2_Silent_p.G382G	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	382					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCTCGCGGGCGCCGGCCTGA	0.731																																					p.G382G													.	.			0			c.C1146A												9	11	10					9																	140128920		2137	4217	6354	SO:0001819	synonymous_variant	142680	exon11			CGCGGGCGCCGGC	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1146C>A	9.37:g.140128920C>A			29	0	0		23	0.09	2	NM_080877	1	0	0	A2BFA1	Silent	SNP	ENST00000538474.1	37	CCDS7038.1																																																																																					0.731	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254712.1		NM_080877		A	140128920	C	A	140128920	2	1	114	1	0	0	0	0	0	0	0	1	14592	755	27	1		1	SLC34A3	9	140128920	Silent	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	28246996	140128920	1084511	29	8557											
PLCE1	51196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	95987141	95987141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcttttcatatttggtgCatgtggccaaatgctgctgg	8	15	11	7	0	2	0	1	0	1	0	2	0	2	0	1	3	3	3	1	3	3	4			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr10:95987141C>T	ENST00000371380.3	+	4	2123	c.1888C>T	c.(1888-1890)Cat>Tat	p.H630Y	PLCE1_ENST00000371375.1_Missense_Mutation_p.H322Y|PLCE1_ENST00000260766.3_Missense_Mutation_p.H630Y|RP11-391J2.3_ENST00000447227.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.H322Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	630	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)				ATATTTGGTGCATGTGGCCAA	0.507																																					p.H630Y													.	.			0			c.C1888T												151	159	156					10																	95987141		2101	4220	6321	SO:0001583	missense	51196	exon5			TTGGTGCATGTGG		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.1888C>T	10.37:g.95987141C>T	ENSP00000360431:p.His630Tyr		194	0	0		165	0.21	35	NM_016341	9	0.44	4	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674665	0.88445	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.72	5.72	0.89469	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.195534	0.43416	D	0.000568	T	0.53126	0.1777	L	0.54323	1.7	0.42430	D	0.992676	D;D;D	0.76494	0.997;0.994;0.999	D;P;D	0.69307	0.963;0.882;0.959	T	0.52071	-0.8624	10	0.72032	D	0.01	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	630;322;630	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Y	630;630;322;322	ENSP00000260766:H630Y;ENSP00000360431:H630Y;ENSP00000360438:H322Y;ENSP00000360426:H322Y	ENSP00000260766:H630Y	H	+	1	0	PLCE1	95977131	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.673000	0.68109	2.705000	0.92388	0.555000	0.69702	CAT			0.507	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049469.3		NM_016341		T	95987141	C	T	95987141	3	4	114	1	0	0	0	0	1	0	0	0	12051	710	25	2	2188	2	PLCE1	10	95987141	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10		95987141	39547606	30	8558											
HPX	3263	mdanderson.org	37	chr11	6452451	6452451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggcccctcagtgagtgCagcccaggagactggtcaca	11	5	13	12	0	2	3	2	1	0	2	2	4	2	3	3	3	2	1	3	3	1	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr11:6452451C>T	ENST00000265983.3	-	10	1479	c.1379G>A	c.(1378-1380)tGc>tAc	p.C460Y		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	460					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TCAGTGAGTGCAGCCCAGGAG	0.537																																					p.C460Y													.	.			0			c.G1379A												58	56	57					11																	6452451		2201	4296	6497	SO:0001583	missense	3263	exon10			TGAGTGCAGCCCA	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1379G>A	11.37:g.6452451C>T	ENSP00000265983:p.Cys460Tyr		75	0	0		47	0.06	3	NM_000613	44	0	0	B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640704	0.67244	.	.	ENSG00000110169	ENST00000265983	T	0.18810	2.19	5.32	5.32	0.75619	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.24012	-1.0172	10	0.87932	D	0	-26.5421	16.4965	0.84246	0.0:1.0:0.0:0.0	.	460	P02790	HEMO_HUMAN	Y	460	ENSP00000265983:C460Y	ENSP00000265983:C460Y	C	-	2	0	HPX	6409027	0.995000	0.38212	0.979000	0.43373	0.920000	0.55202	2.514000	0.45503	2.513000	0.84729	0.561000	0.74099	TGC			0.537	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257256.1		NM_000613		T	6452451	C	T	6452451	3	4	114	1	0	0	0	0	1	0	0	0	7361	710	25	2	13	2	HPX	11	6452451	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10		6452451	128554065	31	8559											
MAPK8IP1	9479	mdanderson.org	37	chr11	45924975	45924975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggagcaggagcagaccCaccgggccatattcaggtga	11	4	16	10	1	1	2	1	1	0	1	1	5	1	5	3	5	2	2	3	5	1	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr11:45924975C>T	ENST00000241014.2	+	6	1647	c.1477C>T	c.(1477-1479)Cac>Tac	p.H493Y	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.H483Y|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	493	Interaction with VRK2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGAGCAGACCCACCGGGCCAT	0.632																																					p.H493Y													.	.			0			c.C1477T												40	35	37					11																	45924975		2203	4299	6502	SO:0001583	missense	9479	exon6			CAGACCCACCGGG		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1477C>T	11.37:g.45924975C>T	ENSP00000241014:p.His493Tyr		48	0	0		18	0.17	3	NM_005456	127	0	0	D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715054	0.89112	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.15487	2.42;2.42	4.68	4.68	0.58851	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	N	0.15975	0.35	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.23583	-1.0184	10	0.87932	D	0	-26.3077	17.7674	0.88482	0.0:1.0:0.0:0.0	.	493	Q9UQF2	JIP1_HUMAN	Y	493;483	ENSP00000241014:H493Y;ENSP00000378991:H483Y	ENSP00000241014:H493Y	H	+	1	0	MAPK8IP1	45881551	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.543000	0.82106	2.447000	0.82792	0.511000	0.50034	CAC			0.632	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259405.1		NM_005456		T	45924975	C	T	45924975	3	4	114	1	0	0	0	0	1	0	0	0	9300	594	21	3	1499	3	MAPK8IP1	11	45924975	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	39472524	45924975	89081541	32	8560											
LRP4	4038	broad.mit.edu	37	chr11	46924405	46924405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccactgggcagggatgcagGtacactctccaagagcactc	10	6	12	13	0	1	1	0	0	1	1	3	2	1	2	2	3	3	4	2	3	2	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr11:46924405G>T	ENST00000378623.1	-	2	370	c.128C>A	c.(127-129)aCc>aAc	p.T43N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	43	LDL-receptor class A 1. {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)		AGGGATGCAGGTACACTCTCC	0.592																																					p.T43N													.	LRP4	160		0			c.C128A												86	76	80					11																	46924405		2201	4299	6500	SO:0001583	missense	4038	exon2			ATGCAGGTACACT	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.128C>A	11.37:g.46924405G>T	ENSP00000367888:p.Thr43Asn		232	0	0		131	0.03	4	NM_002334	17	0	0	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486790	0.84854	.	.	ENSG00000134569	ENST00000378623	D	0.87887	-2.31	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	L	0.35542	1.07	0.80722	D	1	P	0.51791	0.948	P	0.54346	0.749	D	0.84903	0.0843	10	0.25751	T	0.34	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	43	O75096	LRP4_HUMAN	N	43	ENSP00000367888:T43N	ENSP00000367888:T43N	T	-	2	0	LRP4	46880981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.635000	0.83286	2.775000	0.95449	0.655000	0.94253	ACC			0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391133.1		NM_002334		T	46924405	G	T	46924405	3	4	114	1	0	0	0	0	1	0	0	0	8975	1261	44	3	5737	3	LRP4	11	46924405	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	999430	46924405	88082111	33	8561											
SLC3A2	6520	mdanderson.org	37	chr11	62648706	62648706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggaggagctgctgaagGtggcaggcagccccggctgg	8	4	18	11	1	0	1	0	1	0	0	0	3	0	3	3	7	3	5	3	7	2	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr11:62648706G>T	ENST00000377890.2	+	4	682	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	SLC3A2_ENST00000536981.1_5'Flank|SLC3A2_ENST00000377891.2_Missense_Mutation_p.V173L|SLC3A2_ENST00000338663.7_Missense_Mutation_p.V71L|SLC3A2_ENST00000535296.1_Missense_Mutation_p.V141L|SLC3A2_ENST00000377892.1_Missense_Mutation_p.V203L|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V110L	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	172					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCTGCTGAAGGTGGCAGGCAG	0.647											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V173L													.	.			0			c.G517T												19	21	20					11																	62648706		2193	4294	6487	SO:0001583	missense	6520	exon4			CTGAAGGTGGCAG		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.514G>T	11.37:g.62648706G>T	ENSP00000367122:p.Val172Leu		70	0	0	1062	46	0.09	4	NM_001012662	325	0	0	Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	CCDS8039.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.449372|5.449372	0.96205|0.96205	.|.	.|.	ENSG00000168003|ENSG00000168003	ENST00000538084|ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000544377;ENST00000338663;ENST00000541372;ENST00000539458	.|T;T;T;T;T;T;T	.|0.77620	.|-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|0.060269	.|0.64402	.|D	.|0.000003	D|D	0.83008|0.83008	0.5161|0.5161	L|L	0.52905|0.52905	1.665|1.665	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;D;P;D	.|0.64830	.|0.971;0.855;0.994;0.906;0.968	.|P;P;P;P;P	.|0.58331	.|0.646;0.452;0.837;0.641;0.758	D|D	0.83835|0.83835	0.0254|0.0254	5|10	.|0.54805	.|T	.|0.06	-20.4758|-20.4758	15.9301|15.9301	0.79651|0.79651	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|110;141;172;71;203	.|P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.|.;.;4F2_HUMAN;.;.	S|L	142|203;173;172;173;110;141;71;71;29;71	.|ENSP00000367124:V203L;ENSP00000367123:V173L;ENSP00000367122:V172L;ENSP00000367121:V110L;ENSP00000444236:V141L;ENSP00000442135:V71L;ENSP00000340815:V71L	.|ENSP00000340815:V71L	R|V	+|+	3|1	2|0	SLC3A2|SLC3A2	62405282|62405282	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.801000|7.801000	0.85960|0.85960	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	AGG|GTG			0.647	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000157306.1		NM_001012661		T	62648706	G	T	62648706	3	4	114	1	0	0	0	0	1	0	0	0	14650	1261	44	3	628	3	SLC3A2	11	62648706	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	15724301	62648706	72357810	34	8562											
ANKRD42	338699	mdanderson.org	37	chr11	82922394	82922394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcattatgcagcttttcatGggcggcttggctgcttgcaa	6	14	12	9	1	1	0	1	0	0	0	1	0	1	0	0	3	5	7	0	3	2	5			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr11:82922394G>T	ENST00000393392.2	+	5	586	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	ANKRD42_ENST00000531895.1_Missense_Mutation_p.G170W|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G170W|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G170W|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G169W|ANKRD42_ENST00000393389.3_Missense_Mutation_p.G170W|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G57W	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	142					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						AGCTTTTCATGGGCGGCTTGG	0.413																																					p.G142W													.	.			0			c.G424T												169	158	162					11																	82922394		2203	4300	6503	SO:0001583	missense	338699	exon5			TTTCATGGGCGGC	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.424G>T	11.37:g.82922394G>T	ENSP00000377051:p.Gly142Trp		114	0	0		55	0.07	4	NM_182603	8	0	0	Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298218	0.81025	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T;T	0.75154	-0.91;-0.72;-0.79;-0.91;-0.79;-0.79;-0.79	5.71	5.71	0.89125	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000003	D	0.90164	0.6926	M	0.93197	3.39	0.58432	D	0.999992	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	0.92062	0.5657	9	.	.	.	-7.5041	18.6319	0.91363	0.0:0.0:1.0:0.0	.	170;170;434;261;142	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	W	489;170;57;169;170;170;142;170	ENSP00000377049:G170W;ENSP00000432375:G57W;ENSP00000260047:G169W;ENSP00000433585:G170W;ENSP00000434666:G170W;ENSP00000377051:G142W;ENSP00000435790:G170W	.	G	+	1	0	ANKRD42	82600042	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	6.690000	0.74567	2.703000	0.92315	0.555000	0.69702	GGG			0.413	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000392934.1		NM_182603		T	82922394	G	T	82922394	3	4	114	1	0	0	0	0	1	0	0	0	670	1348	47	3	442	3	ANKRD42	11	82922394	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	20273688	82922394	52084122	35	8563											
SIK3	23387	mdanderson.org	37	chr11	116718216	116718216	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttccccatcctgaaactGctggctgcccatgagcgaag	9	10	9	13	1	0	2	0	2	0	0	2	3	2	2	4	1	4	2	4	1	2	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr11:116718216G>A	ENST00000292055.4	-	22	3645	c.3610C>T	c.(3610-3612)Cag>Tag	p.Q1204*	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q1043*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.Q539*|SIK3_ENST00000375300.1_Nonsense_Mutation_p.Q1262*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q1144*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q1202*|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1204					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCCTGAAACTGCTGGCTGCCC	0.562																																					p.Q1204X													.	.			0			c.C3610T												209	189	196					11																	116718216		2201	4292	6493	SO:0001587	stop_gained	23387	exon22			GAAACTGCTGGCT	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3610C>T	11.37:g.116718216G>A	ENSP00000292055:p.Gln1204*		99	0	0		52	0.08	4	NM_025164	55	0	0	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Nonsense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.968660|11.968660	0.99622|0.99622	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|.	.|.	.|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.39544	.|U	.|0.001336	T|.	0.77412|.	0.4126|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81048|.	-0.1109|.	3|.	.|0.87932	.|D	.|0	.|.	18.1107|18.1107	0.89534|0.89534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	1303;43;1166|1262;1204;539;1144;1043	.|.	.|ENSP00000292055:Q1204X	A|Q	-|-	2|1	0|0	SIK3|SIK3	116223426|116223426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.046000|9.046000	0.93817|0.93817	2.253000|2.253000	0.74438|0.74438	0.557000|0.557000	0.71058|0.71058	GCA|CAG			0.562	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				NM_025164		A	116718216	G	A	116718216	4	1	114	1	0	0	0	0	0	1	0	0	14342	1328	46	2	189	2	SIK3	11	116718216	Nonsense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	33795822	116718216	18288300	36	8564											
FBXL14	144699	broad.mit.edu	37	chr12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcagcttggcctccAccccccgccacaccgacttg	6	6	10	19	2	0	0	0	0	0	0	1	1	1	0	7	2	2	3	7	2	0	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731																																					p.V48G													.	FBXL14	19		0			c.T143G												7	9	8					12																	1703090		2147	4245	6392	SO:0001583	missense	144699	exon1			GCCTCCACCCCCC	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.143T>G	12.37:g.1703090A>C	ENSP00000344855:p.Val48Gly		22	0.5	11		44	0.68	30	NM_152441	75	0.4	30		Missense_Mutation	SNP	ENST00000339235.3	37	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263601	0.59431	.	.	ENSG00000171823	ENST00000339235	T	0.56776	0.44	4.03	4.03	0.46877	F-box domain, cyclin-like (1);	0.155201	0.43260	D	0.000588	T	0.74913	0.3779	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78001	-0.2375	10	0.87932	D	0	.	6.3942	0.21603	0.8088:0.0:0.1912:0.0	.	48	Q8N1E6	FXL14_HUMAN	G	48	ENSP00000344855:V48G	ENSP00000344855:V48G	V	-	2	0	FBXL14	1573351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.648000	0.83479	1.684000	0.51022	0.254000	0.18369	GTG			0.731	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206741.1		NM_152441		C	1703090	A	C	1703090	3	2	114	1	0	0	0	0	1	0	0	0	5723	159	6	4	1121	4	FBXL14	12	1703090	Missense_Mutation	SNP	A	TCGA-XE-AANJ-01A-11D-A435-10		1703090	132148805	37	8565											
HSD17B6	8630	mdanderson.org	37	chr12	57178677	57178677	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaaaatcagcatagttGaacctggctacttcagaacg	13	9	11	8	1	2	3	2	2	0	1	2	3	2	3	1	2	4	3	1	2	6	4			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr12:57178677G>T	ENST00000554643.1	+	5	962	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	HSD17B6_ENST00000555159.1_Nonsense_Mutation_p.E205*|HSD17B6_ENST00000554150.1_Nonsense_Mutation_p.E205*|HSD17B6_ENST00000322165.1_Nonsense_Mutation_p.E205*|HSD17B6_ENST00000555805.1_Nonsense_Mutation_p.E205*			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	205					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	CAGCATAGTTGAACCTGGCTA	0.418																																					p.E205X													.	.			0			c.G613T												171	164	167					12																	57178677		2203	4300	6503	SO:0001587	stop_gained	8630	exon4			ATAGTTGAACCTG	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.613G>T	12.37:g.57178677G>T	ENSP00000451406:p.Glu205*		105	0	0		92	0.05	5	NM_003725	23	0	0	O43275	Nonsense_Mutation	SNP	ENST00000554643.1	37	CCDS8925.1	.	.	.	.	.	.	.	.	.	.	g	41	9.144433	0.99080	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000554150;ENST00000322165	.	.	.	4.42	3.51	0.40186	.	0.235738	0.28284	N	0.015910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.4746	0.55805	0.0:0.0:0.831:0.169	.	.	.	.	X	205	.	ENSP00000318631:E205X	E	+	1	0	HSD17B6	55464944	1.000000	0.71417	0.159000	0.22649	0.988000	0.76386	8.462000	0.90374	1.021000	0.39600	0.651000	0.88453	GAA			0.418	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000410714.1		NM_003725		T	57178677	G	T	57178677	4	4	114	1	0	0	0	0	0	1	0	0	7402	1291	45	3	623	3	HSD17B6	12	57178677	Nonsense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	55475587	57178677	76673218	38	8566											
FOXN4	121643	ucsc.edu	37	chr12	109724470	109724470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttgaagtaggggaagtGctccttcatgaagctgtaga	11	10	12	8	0	1	3	1	2	0	1	2	4	2	4	2	2	2	4	2	2	5	4			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr12:109724470G>T	ENST00000299162.5	-	7	780	c.676C>A	c.(676-678)Cac>Aac	p.H226N	FOXN4_ENST00000355216.1_Missense_Mutation_p.H46N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	226					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						TAGGGGAAGTGCTCCTTCATG	0.617																																					p.H226N													.	FOXN4	74		0			c.C676A												101	72	82					12																	109724470		2203	4300	6503	SO:0001583	missense	121643	exon7			GGAAGTGCTCCTT	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.676C>A	12.37:g.109724470G>T	ENSP00000299162:p.His226Asn		42	0	0		40	0.1	4	NM_213596	0		0	Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	CCDS9126.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.85|12.85	2.060777|2.060777	0.36373|0.36373	.|.	.|.	ENSG00000139445|ENSG00000139445	ENST00000266856|ENST00000355216;ENST00000299162	.|D;D	.|0.95238	.|-3.65;-3.65	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91260|0.91260	0.7245|0.7245	N|N	0.04260|0.04260	-0.245|-0.245	0.80722|0.80722	D|D	1|1	.|P;P	.|0.49696	.|0.927;0.756	.|P;P	.|0.58620	.|0.842;0.627	D|D	0.89987|0.89987	0.4105|0.4105	6|10	0.87932|0.19147	D|T	0|0.46	-6.6461|-6.6461	16.3552|16.3552	0.83233|0.83233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|226;226	.|A6H901;Q96NZ1	.|.;FOXN4_HUMAN	E|N	184|46;226	.|ENSP00000347354:H46N;ENSP00000299162:H226N	ENSP00000266856:A184E|ENSP00000299162:H226N	A|H	-|-	2|1	0|0	FOXN4|FOXN4	108208853|108208853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.811000|7.811000	0.86092|0.86092	2.171000|2.171000	0.68590|0.68590	0.491000|0.491000	0.48974|0.48974	GCA|CAC			0.617	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328306.1		XM_062735		T	109724470	G	T	109724470	3	4	114	1	0	0	0	0	1	0	0	0	6035	1319	46	2	893	2	FOXN4	12	109724470	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	52545793	109724470	24127425	39	8567											
LATS2	26524	mdanderson.org	37	chr13	21563351	21563351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagcttgggccctcgtaggGggtaccgctcagctggtggt	5	9	17	10	2	1	0	1	0	0	0	2	1	1	0	2	5	3	5	2	5	3	3			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr13:21563351G>T	ENST00000382592.4	-	4	973	c.568C>A	c.(568-570)Ccc>Acc	p.P190T	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.P190T	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)		CCCTCGTAGGGGGTACCGCTC	0.677																																					p.P190T													LATS2_ENST00000382592,NS,carcinoma,+1,2	LATS2_ENST00000382592	1	2	0			c.C568A												80	68	72					13																	21563351		2203	4300	6503	SO:0001583	missense	26524	exon4			CGTAGGGGGTACC	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.568C>A	13.37:g.21563351G>T	ENSP00000372035:p.Pro190Thr		72	0	0		45	0.07	3	NM_014572	6	0	0		Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	3.847	-0.032549	0.07543	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.23147	1.92;1.92	5.09	2.35	0.29111	.	0.590596	0.16294	N	0.220755	T	0.10165	0.0249	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31392	-0.9945	10	0.20519	T	0.43	.	3.4706	0.07566	0.1338:0.5707:0.1395:0.156	.	190	Q9NRM7	LATS2_HUMAN	T	190	ENSP00000372035:P190T;ENSP00000441817:P190T	ENSP00000372035:P190T	P	-	1	0	LATS2	20461351	0.006000	0.16342	0.068000	0.19968	0.014000	0.08584	0.249000	0.18216	0.149000	0.19098	-0.494000	0.04653	CCC			0.677	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044102.1				T	21563351	G	T	21563351	3	4	114	1	0	0	0	0	1	0	0	0	8662	1232	43	3	2718	3	LATS2	13	21563351	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		21563351	93606527	40	8568											
ATP12A	479	mdanderson.org	37	chr13	25265283	25265283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctccatcggcatccttttCttcatcatcgctgtgtccct	4	16	6	15	2	4	0	2	0	2	0	9	0	6	0	3	1	0	2	3	1	0	3			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr13:25265283C>T	ENST00000381946.3	+	8	1130	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ATP12A_ENST00000218548.6_Silent_p.F327F			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	321					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)		GCATCCTTTTCTTCATCATCG	0.527																																					p.F327F	Pancreas(156;1582 1935 18898 22665 26498)												.	.			0			c.C981T												154	116	129					13																	25265283		2203	4300	6503	SO:0001819	synonymous_variant	479	exon8			CCTTTTCTTCATC	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.963C>T	13.37:g.25265283C>T			84	0.0714285714	6		48	0.1	5	NM_001185085	47	0.02	1	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																					0.527	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044199.1		NM_001676		T	25265283	C	T	25265283	2	4	114	1	0	0	0	0	0	0	0	1	1122	912	32	3		3	ATP12A	13	25265283	Silent	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	3701932	25265283	89904595	41	8569											
IRS2	8660	mdanderson.org	37	chr13	110436262	110436262	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcctgcccgccgcagaGgtgggtgctggccccgcagg	5	6	16	14	3	0	1	0	0	0	1	1	1	1	1	5	4	2	3	5	4	1	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr13:110436262G>T	ENST00000375856.3	-	1	2653	c.2139C>A	c.(2137-2139)acC>acA	p.T713T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	713					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)			CCGCCGCAGAGGTGGGTGCTG	0.756																																					p.T713T	Melanoma(100;613 2409 40847)												.	.			0			c.C2139A												4	3	3					13																	110436262		1474	3031	4505	SO:0001819	synonymous_variant	8660	exon1			CGCAGAGGTGGGT	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.2139C>A	13.37:g.110436262G>T			44	0	0		43	0.07	3	NM_003749	1	0	0	Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	CCDS9510.1																																																																																					0.756	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045755.1		NM_003749		T	110436262	G	T	110436262	2	4	114	1	0	0	0	0	0	0	0	1	7856	987	35	3		3	IRS2	13	110436262	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	85170979	110436262	4733616	42	8570											
ADPRHL1	113622	mdanderson.org	37	chr13	114083363	114083363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggggctttccttgtgCggcgaacgacacaaacaggg	10	6	14	11	3	0	0	0	0	0	0	1	3	1	0	2	4	3	1	2	4	2	2	rs377658823		TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr13:114083363C>T	ENST00000375418.3	-	4	636	c.550G>A	c.(550-552)Gca>Aca	p.A184T	ADPRHL1_ENST00000356501.4_Missense_Mutation_p.A102T	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	184					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TTTCCTTGTGCGGCGAACGAC	0.657																																					p.A184T													.	.			0			c.G550A							C	THR/ALA,THR/ALA	1,4403	2.1+/-5.4	0,1,2201	44	40	41		550,304	-10.2	0	13		41	0,8590		0,0,4295	no	missense,missense	ADPRHL1	NM_138430.3,NM_199162.1	58,58	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	184/355,102/273	114083363	1,12993	2202	4295	6497	SO:0001583	missense	113622	exon4			CTTGTGCGGCGAA	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.550G>A	13.37:g.114083363C>T	ENSP00000364567:p.Ala184Thr		62	0	0		37	0.08	3	NM_138430	7	0	0	Q5JUG2|Q96GD1	Missense_Mutation	SNP	ENST00000375418.3	37	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512734	0.27123	2.27E-4	0.0	ENSG00000153531	ENST00000356501;ENST00000375418;ENST00000413169	T;T;T	0.29655	1.56;1.56;1.56	5.08	-10.2	0.00374	.	0.559357	0.18497	N	0.139461	T	0.12050	0.0293	N	0.22421	0.69	0.09310	N	1	P	0.36535	0.557	B	0.22753	0.041	T	0.04537	-1.0944	10	0.46703	T	0.11	-0.3064	12.7322	0.57204	0.0:0.0969:0.0839:0.8192	.	184	Q8NDY3	ARHL1_HUMAN	T	102;184;102	ENSP00000348894:A102T;ENSP00000364567:A184T;ENSP00000416213:A102T	ENSP00000348894:A102T	A	-	1	0	ADPRHL1	113131364	0.038000	0.19896	0.000000	0.03702	0.043000	0.13939	0.365000	0.20348	-2.555000	0.00477	-0.379000	0.06801	GCA			0.657	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045915.2		NM_138430		T	114083363	C	T	114083363	3	4	114	1	0	0	0	0	1	0	0	0	332	768	27	1	530	1	ADPRHL1	13	114083363	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	3647101	114083363	1086515	43	8571											
MLH3	27030	hgsc.bcm.edu	37	chr14	75514926	75514926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattttctccagcttctgatGctacaattgtctcttgttct	6	19	5	11	0	4	1	0	1	4	0	6	1	4	1	1	0	3	3	1	0	2	7			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr14:75514926G>T	ENST00000556740.1	-	1	1468	c.1433C>A	c.(1432-1434)gCa>gAa	p.A478E	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.A478E|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.A478E|MLH3_ENST00000355774.2_Missense_Mutation_p.A478E			Q9UHC1	MLH3_HUMAN	mutL homolog 3	478					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)		AGCTTCTGATGCTACAATTGT	0.383								Mismatch excision repair (MMR)																													p.A478E													.	.			0			c.C1433A												87	92	90					14																	75514926		2203	4299	6502	SO:0001583	missense	27030	exon2			TCTGATGCTACAA	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.1433C>A	14.37:g.75514926G>T	ENSP00000452316:p.Ala478Glu		137	0	0		93	0.04	4	NM_014381	6	0	0	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	1.396	-0.579422	0.03854	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80653	-1.34;-1.35;-1.4;-1.34	4.81	-1.53	0.08611	.	1.149520	0.06328	N	0.705635	T	0.67636	0.2914	L	0.51422	1.61	0.09310	N	1	P;B	0.38504	0.634;0.363	B;B	0.36186	0.219;0.109	T	0.53690	-0.8403	10	0.05721	T	0.95	0.5293	4.8227	0.13400	0.47:0.1598:0.3702:0.0	.	478;478	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	E	478	ENSP00000348020:A478E;ENSP00000238662:A478E;ENSP00000451540:A478E;ENSP00000452316:A478E	ENSP00000238662:A478E	A	-	2	0	MLH3	74584679	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	0.387000	0.20718	0.016000	0.14998	0.585000	0.79938	GCA			0.383	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415006.1		NM_014381		T	75514926	G	T	75514926	3	4	114	1	0	0	0	0	1	0	0	0	9634	1319	46	2	2976	2	MLH3	14	75514926	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		75514926	31834614	44	8572											
FLVCR2	55640	mdanderson.org	37	chr14	76045333	76045333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggtgaatgaaggtccCaaccaggaagagagcgatga	14	5	15	7	2	0	4	0	3	0	1	1	8	1	5	2	3	2	0	2	3	4	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr14:76045333C>A	ENST00000238667.4	+	1	374	c.18C>A	c.(16-18)ccC>ccA	p.P6P	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	6					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)		ATGAAGGTCCCAACCAGGAAG	0.607											OREG0022816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P6P													.	.			0			c.C18A												58	62	61					14																	76045333		2203	4300	6503	SO:0001819	synonymous_variant	55640	exon1			AGGTCCCAACCAG	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.18C>A	14.37:g.76045333C>A			59	0	0	1165	49	0.06	3	NM_017791	15	0	0	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	CCDS9844.1																																																																																					0.607	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413672.1		NM_017791		A	76045333	C	A	76045333	2	1	114	1	0	0	0	0	0	0	0	1	5959	581	21	3		3	FLVCR2	14	76045333	Silent	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	530407	76045333	31304207	45	8573											
C14orf49	161176	mdanderson.org	37	chr14	95921773	95921773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgctttcgccgcaggctGcaggccctcctgggccagcc	3	6	12	20	3	0	0	0	0	0	0	2	0	1	0	7	3	2	4	7	3	0	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr14:95921773G>T	ENST00000334258.5	-	5	1092	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K	SYNE3_ENST00000557275.1_Missense_Mutation_p.Q360K|SYNE3_ENST00000553340.1_Missense_Mutation_p.Q360K|SYNE3_ENST00000554873.1_Missense_Mutation_p.Q117K	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	360					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						GCCGCAGGCTGCAGGCCCTCC	0.657																																					p.Q360K													.	.			0			c.C1078A												28	32	31					14																	95921773		2203	4300	6503	SO:0001583	missense	161176	exon5			CAGGCTGCAGGCC	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.1078C>A	14.37:g.95921773G>T	ENSP00000334308:p.Gln360Lys		70	0	0		45	0.07	3	NM_152592	1	0	0	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	8.425	0.847235	0.17034	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.34859	3.55;1.34;3.55;2.99	4.99	0.842	0.18927	.	0.595280	0.13789	N	0.362653	T	0.24890	0.0604	N	0.22421	0.69	0.22620	N	0.998925	B;B;B	0.24368	0.102;0.102;0.062	B;B;B	0.23716	0.048;0.048;0.021	T	0.16188	-1.0411	10	0.11485	T	0.65	-11.2308	17.0329	0.86466	0.0:0.4552:0.5448:0.0	.	360;360;360	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	K	360;117;360;360	ENSP00000334308:Q360K;ENSP00000452154:Q117K;ENSP00000450562:Q360K;ENSP00000450774:Q360K	ENSP00000334308:Q360K	Q	-	1	0	C14orf49	94991526	1.000000	0.71417	0.007000	0.13788	0.008000	0.06430	1.143000	0.31553	-0.126000	0.11682	-0.519000	0.04390	CAG			0.657	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000420529.2		NM_152592		T	95921773	G	T	95921773	3	4	114	1	0	0	0	0	1	0	0	0	1778	1328	46	2	1901	2	C14orf49	14	95921773	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	19876440	95921773	11427767	46	8574											
PLCB2	5330	mdanderson.org	37	chr15	40580988	40580988	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagctctggggggcactcGcaggccctctcaggcttgtc	5	8	13	15	1	2	0	1	0	2	0	5	0	2	0	1	5	1	4	1	5	0	1	rs61755439	byFrequency	TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr15:40580988G>T	ENST00000260402.3	-	32	3735	c.3486C>A	c.(3484-3486)tgC>tgA	p.C1162*	PLCB2_ENST00000557821.1_Nonsense_Mutation_p.C1158*|PLCB2_ENST00000456256.2_Nonsense_Mutation_p.C1147*	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1162					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)		GGGGGCACTCGCAGGCCCTCT	0.627																																					p.C1162X													.	.			0			c.C3486A												44	50	48					15																	40580988		1965	4146	6111	SO:0001587	stop_gained	5330	exon32			GCACTCGCAGGCC		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.3486C>A	15.37:g.40580988G>T	ENSP00000260402:p.Cys1162*		94	0	0		73	0.05	4	NM_004573	51	0	0	A8K6J2|B9EGH5	Nonsense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	39	7.765423	0.98477	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	.	.	.	4.47	-1.67	0.08238	.	2.090910	0.01599	N	0.021975	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6731	0.12699	0.3346:0.2012:0.4642:0.0	.	.	.	.	X	1162;1147	.	ENSP00000260402:C1162X	C	-	3	2	PLCB2	38368280	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.007000	0.13174	-0.118000	0.11851	-0.367000	0.07326	TGC			0.627	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000418430.1				T	40580988	G	T	40580988	4	4	114	1	0	0	0	0	0	1	0	0	12045	1079	38	1	75	1	PLCB2	15	40580988	Nonsense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		40580988	61950404	47	8575											
LMAN1L	79748	bcgsc.ca;mdanderson.org	37	chr15	75112999	75112999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcagcccttcctggaGatgcagcagctccgcctggc	5	7	10	19	1	1	1	1	0	0	1	3	2	3	1	6	2	4	3	6	2	0	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr15:75112999G>T	ENST00000309664.5	+	8	937	c.798G>T	c.(796-798)gaG>gaT	p.E266D	LMAN1L_ENST00000379709.3_Missense_Mutation_p.E254D|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	266						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTCCTGGAGATGCAGCAGC	0.612																																					p.E266D													.	LMAN1L	43		0			c.G798T												77	78	78					15																	75112999		2197	4296	6493	SO:0001583	missense	79748	exon8			CCTGGAGATGCAG	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.798G>T	15.37:g.75112999G>T	ENSP00000310431:p.Glu266Asp		67	0	0		75	0.07	5	NM_021819	0		0	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	9.624	1.134579	0.21123	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.42900	0.97;0.96	4.3	2.39	0.29439	.	0.549745	0.18016	N	0.154402	T	0.23330	0.0564	N	0.08118	0	0.09310	N	1	P;P	0.49559	0.925;0.877	P;B	0.47162	0.54;0.339	T	0.10245	-1.0638	10	0.13108	T	0.6	.	7.4259	0.27098	0.2123:0.0:0.7877:0.0	.	254;266	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	D	266;254	ENSP00000310431:E266D;ENSP00000369031:E254D	ENSP00000310431:E266D	E	+	3	2	LMAN1L	72900052	0.044000	0.20184	0.097000	0.21041	0.376000	0.30014	0.749000	0.26320	0.526000	0.28541	0.555000	0.69702	GAG			0.612	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286397.4				T	75112999	G	T	75112999	3	4	114	1	0	0	0	0	1	0	0	0	8852	933	33	3	828	3	LMAN1L	15	75112999	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	34532011	75112999	27418393	48	8576											
FAHD1	81889	mdanderson.org	37	chr16	1877842	1877842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggttaaagaaaacgatgaGatcgaggctggcatacacgg	14	6	13	8	4	0	2	0	1	0	2	1	5	0	2	1	4	2	3	1	4	5	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr16:1877842G>T	ENST00000427358.2	+	1	618	c.612G>T	c.(610-612)gaG>gaT	p.E204D	HAGH_ENST00000455446.2_5'Flank|HAGH_ENST00000397356.3_5'Flank|HAGH_ENST00000397353.2_5'Flank|FAHD1_ENST00000382668.4_Missense_Mutation_p.E204D|FAHD1_ENST00000382666.4_Missense_Mutation_p.E204D|HAGH_ENST00000566709.1_5'Flank	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	204						cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						AAAACGATGAGATCGAGGCTG	0.418																																					p.E204D													.	.			0			c.G612T												82	81	81					16																	1877842		2199	4300	6499	SO:0001583	missense	81889	exon1			CGATGAGATCGAG	BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 36"	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.612G>T	16.37:g.1877842G>T	ENSP00000398053:p.Glu204Asp		164	0	0		107	0.05	5	NM_031208	56	0	0	B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Missense_Mutation	SNP	ENST00000427358.2	37	CCDS10448.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160694	0.38119	.	.	ENSG00000180185	ENST00000382668;ENST00000382666;ENST00000427358	D;D;D	0.95171	-3.63;-3.63;-3.63	4.34	2.36	0.29203	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	L	0.60067	1.865	0.49582	D	0.999804	B;B;B	0.26809	0.132;0.16;0.087	B;B;B	0.27262	0.046;0.078;0.043	T	0.83343	-0.0007	10	0.14252	T	0.57	.	9.598	0.39587	0.1707:0.0:0.8293:0.0	.	204;204;204	Q6P587-2;B1AK40;Q6P587	.;.;FAHD1_HUMAN	D	204	ENSP00000372114:E204D;ENSP00000372112:E204D;ENSP00000398053:E204D	ENSP00000372112:E204D	E	+	3	2	FAHD1	1817843	1.000000	0.71417	0.631000	0.29282	0.975000	0.68041	4.943000	0.63554	0.576000	0.29452	0.655000	0.94253	GAG			0.418	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250550.2		NM_001018104		T	1877842	G	T	1877842	3	4	114	1	0	0	0	0	1	0	0	0	5382	933	33	3	614	3	FAHD1	16	1877842	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		1877842	88476911	49	8577											
FBXL19	54620	mdanderson.org	37	chr16	30939251	30939251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaaacgaaaggaaagggaGgcagggaatgagcctcccac	15	2	13	11	1	0	1	0	1	0	0	1	5	1	4	3	4	2	1	3	4	4	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr16:30939251G>T	ENST00000380310.2	+	5	812	c.654G>T	c.(652-654)gaG>gaT	p.E218D	FBXL19_ENST00000562319.1_Missense_Mutation_p.E198D|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000338343.4_Missense_Mutation_p.E198D	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	218	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAAAGGGAGGCAGGGAATG	0.672																																					p.E218D													.	.			0			c.G654T												8	8	8					16																	30939251		1908	4062	5970	SO:0001583	missense	54620	exon5			AAGGGAGGCAGGG	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.654G>T	16.37:g.30939251G>T	ENSP00000369666:p.Glu218Asp		39	0	0		27	0.11	3	NM_001099784	31	0	0	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.55|13.55	2.270802|2.270802	0.40194|0.40194	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000338343;ENST00000380310|ENST00000427128	T;T|.	0.25749|.	1.78;2.1|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	2.597800|.	0.01597|.	N|.	0.021846|.	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.08118|0.08118	0|0	0.28013|0.28013	N|N	0.934824|0.934824	B;B|.	0.28324|.	0.207;0.183|.	B;B|.	0.33960|.	0.145;0.173|.	T|T	0.12293|0.12293	-1.0553|-1.0553	10|5	0.23302|.	T|.	0.38|.	-16.0447|-16.0447	9.0677|9.0677	0.36473|0.36473	0.1011:0.0:0.8989:0.0|0.1011:0.0:0.8989:0.0	.|.	218;218|.	Q6PCT2;Q6PCT2-2|.	FXL19_HUMAN;.|.	D|C	198;218|153	ENSP00000339712:E198D;ENSP00000369666:E218D|.	ENSP00000339712:E198D|.	E|G	+|+	3|1	2|0	FBXL19|FBXL19	30846752|30846752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	4.723000|4.723000	0.61965|0.61965	2.225000|2.225000	0.72522|0.72522	0.306000|0.306000	0.20318|0.20318	GAG|GGC			0.672	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_019085		T	30939251	G	T	30939251	3	4	114	1	0	0	0	0	1	0	0	0	5728	991	35	3	672	3	FBXL19	16	30939251	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	29061409	30939251	59415502	50	8578											
ZNF646	9726	mdanderson.org	37	chr16	31088604	31088604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcccatgagggtgaaaGgcaggagccacgctgggagg	10	4	18	9	1	0	2	0	2	0	0	1	4	1	4	2	5	1	3	2	5	1	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr16:31088604G>T	ENST00000394979.2	+	1	1382	c.959G>T	c.(958-960)aGg>aTg	p.R320M	ZNF646_ENST00000300850.5_Missense_Mutation_p.R320M|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	320					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						GAGGGTGAAAGGCAGGAGCCA	0.632																																					p.R320M													.	.			0			c.G959T												50	45	46					16																	31088604		2197	4300	6497	SO:0001583	missense	9726	exon2			GTGAAAGGCAGGA	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.959G>T	16.37:g.31088604G>T	ENSP00000378429:p.Arg320Met		82	0	0		50	0.06	3	NM_014699	17	0	0	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	G	12.46	1.943617	0.34283	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.10192	2.9;2.95	4.81	0.442	0.16582	.	.	.	.	.	T	0.10637	0.0260	N	0.19112	0.55	0.19300	N	0.999976	P	0.48016	0.904	P	0.50192	0.634	T	0.26503	-1.0101	9	0.72032	D	0.01	-2.251	8.2832	0.31913	0.6076:0.0:0.3924:0.0	.	320	O15015-2	.	M	320	ENSP00000300850:R320M;ENSP00000378429:R320M	ENSP00000300850:R320M	R	+	2	0	ZNF646	30996105	0.967000	0.33354	0.233000	0.24025	0.934000	0.57294	0.289000	0.18957	-0.042000	0.13535	-0.345000	0.07892	AGG			0.632	ZNF646-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000108510.2		NM_014699		T	31088604	G	T	31088604	3	4	114	1	0	0	0	0	1	0	0	0	18085	1000	35	3	961	3	ZNF646	16	31088604	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	149353	31088604	59266149	51	8579											
NLE1	54475	mdanderson.org	37	chr17	33469134	33469134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacatcgcgcgccaccGcctcgtcctgcgcgagcaag	6	5	12	18	7	0	0	0	0	0	0	3	1	1	0	4	0	3	3	4	0	1	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr17:33469134G>A	ENST00000442241.4	-	2	65	c.26C>T	c.(25-27)gCg>gTg	p.A9V	NLE1_ENST00000360831.5_Missense_Mutation_p.A9V|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	9					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCGCGCCACCGCCTCGTCCTG	0.701																																					p.A9V													.	.			0			c.C26T												30	24	26					17																	33469134		2196	4290	6486	SO:0001583	missense	54475	exon2			GCCACCGCCTCGT		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.26C>T	17.37:g.33469134G>A	ENSP00000413572:p.Ala9Val		54	0	0		27	0.11	3	NM_018096	9	0	0	O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	G	8.369	0.834802	0.16820	.	.	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.57436	0.4	4.79	-0.0481	0.13840	.	0.472937	0.23989	N	0.042584	T	0.16471	0.0396	N	0.01352	-0.895	0.24968	N	0.991686	B	0.19073	0.033	B	0.06405	0.002	T	0.12682	-1.0538	10	0.27082	T	0.32	-10.5392	2.3213	0.04211	0.0986:0.177:0.4035:0.3209	.	9	Q9NVX2	NLE1_HUMAN	V	9	ENSP00000413572:A9V	ENSP00000413572:A9V	A	-	2	0	NLE1	30493247	1.000000	0.71417	0.990000	0.47175	0.212000	0.24457	0.765000	0.26546	0.207000	0.20607	0.591000	0.81541	GCG			0.701	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256441.2		NM_018096		A	33469134	G	A	33469134	3	1	114	1	0	0	0	0	1	0	0	0	10477	1087	38	1	1479	1	NLE1	17	33469134	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		33469134	47726076	52	8580											
SRCIN1	80725	mdanderson.org	37	chr17	36714529	36714529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcctcttccaccagggtgCgctgccgctgcagcgggtcc	3	9	13	16	3	1	0	0	0	1	0	4	0	4	0	5	2	4	4	5	2	0	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr17:36714529C>T	ENST00000264659.7	-	11	2359	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R746H|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	584					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACCAGGGTGCGCTGCCGCTG	0.701											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R712H													.	.			0			c.G2135A												29	36	34					17																	36714529		2095	4208	6303	SO:0001583	missense	80725	exon11			AGGGTGCGCTGCC		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2135G>A	17.37:g.36714529C>T	ENSP00000264659:p.Arg712His		51	0.0196078431	1	865	26	0.08	2	NM_025248	3	0	0	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523325	0.96431	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.54279	0.58	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	M	0.76727	2.345	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	0.77133	-0.2700	10	0.87932	D	0	-16.5258	16.865	0.86027	0.0:1.0:0.0:0.0	.	18;584;584;712	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	H	712;493;566	ENSP00000264659:R712H	ENSP00000264659:R712H	R	-	2	0	SRCIN1	33968055	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.349000	0.79376	2.273000	0.75805	0.455000	0.32223	CGC			0.701	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000441878.4		NM_025248		T	36714529	C	T	36714529	3	4	114	1	0	0	0	0	1	0	0	0	15159	768	27	1	1452	1	SRCIN1	17	36714529	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	3245395	36714529	44480681	53	8581											
RPL19	6143	hgsc.bcm.edu	37	chr17	37360424	37360424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaggcagacaaggccCgcaagaagctcctggcgtaa	13	4	13	11	2	0	3	0	1	0	2	1	3	1	3	2	3	2	5	2	3	5	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr17:37360424C>T	ENST00000225430.4	+	5	513	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	RPL19_ENST00000582193.1_Missense_Mutation_p.R149C|RPL19_ENST00000579260.1_Missense_Mutation_p.R149C|RPL19_ENST00000579374.1_Missense_Mutation_p.R148C	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	151					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)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						AGACAAGGCCCGCAAGAAGCT	0.453																																					p.R151C													RPL19,NS,carcinoma,-1,1	RPL19	-1	1	0			c.C451T												62	65	64					17																	37360424		1909	4127	6036	SO:0001583	missense	6143	exon5			AAGGCCCGCAAGA		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"L ribosomal proteins"	10312	protein-coding gene	gene with protein product	"60S ribosomal protein L19", "ribosomal protein L19, cytosolic, N-terminus truncated"	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.451C>T	17.37:g.37360424C>T	ENSP00000225430:p.Arg151Cys		27	0.037037037	1		31	0.06	2	NM_000981	14796	0	15	B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	c	19.04	3.750092	0.69533	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.43	5.43	0.79202	.	0.056541	0.64402	N	0.000001	T	0.81597	0.4856	H	0.96208	3.785	0.80722	D	1	B	0.16166	0.016	B	0.08055	0.003	T	0.81957	-0.0695	9	0.62326	D	0.03	.	18.8481	0.92215	0.0:1.0:0.0:0.0	.	151	P84098	RL19_HUMAN	C	151	.	ENSP00000225430:R151C	R	+	1	0	RPL19	34613950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.627000	0.83176	2.551000	0.86045	0.563000	0.77884	CGC			0.453	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000444190.1		NM_000981		T	37360424	C	T	37360424	3	4	114	1	0	0	0	0	1	0	0	0	13589	652	23	1	469	1	RPL19	17	37360424	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	645895	37360424	43834786	54	8582											
KRT33A	3883	mdanderson.org	37	chr17	39507011	39507011	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgggcaggccacaactGtaagacatggtgcagggagg	11	5	17	8	0	0	1	0	0	0	1	0	2	0	2	1	6	2	4	1	6	2	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr17:39507011G>T	ENST00000007735.3	-	1	53	c.9C>A	c.(7-9)taC>taA	p.Y3*		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	3	Head.					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)				GGCCACAACTGTAAGACATGG	0.632																																					p.Y3X													.	.			0			c.C9A												13	15	14					17																	39507011		2177	4290	6467	SO:0001587	stop_gained	3883	exon1			ACAACTGTAAGAC	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.9C>A	17.37:g.39507011G>T	ENSP00000007735:p.Tyr3*		53	0	0		44	0.07	3	NM_004138	0		0	B2RA87|Q6NTB9|Q6ZZB9	Nonsense_Mutation	SNP	ENST00000007735.3	37	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773577	0.49786	.	.	ENSG00000006059	ENST00000007735	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8847	0.52596	0.0844:0.0:0.9156:0.0	.	.	.	.	X	3	.	ENSP00000007735:Y3X	Y	-	3	2	KRT33A	36760537	0.139000	0.22563	0.948000	0.38648	0.011000	0.07611	1.491000	0.35583	2.809000	0.96659	0.557000	0.71058	TAC			0.632	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257295.1		NM_004138		T	39507011	G	T	39507011	4	4	114	1	0	0	0	0	0	1	0	0	8484	1372	48	3	1233	3	KRT33A	17	39507011	Nonsense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	2146587	39507011	41688199	55	8583											
KIAA1267	284058	hgsc.bcm.edu;broad.mit.edu	37	chr17	44109654	44109662	+	In_Frame_Del	DEL	GACCTGTAG	GACCTGTAG	-																															gggttgtccggccgtctgatGacctgtaggacctgcacacc																										TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	GACCTGTAG	GACCTGTAG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr17:44109654_44109662delGACCTGTAG	ENST00000262419.6	-	14	3311_3319	c.2841_2849delCTACAGGTC	c.(2839-2850)tcctacaggtca>tca	p.947_950SYRS>S	KANSL1_ENST00000572904.1_In_Frame_Del_p.947_950SYRS>S|KANSL1_ENST00000432791.1_In_Frame_Del_p.947_950SYRS>S|KANSL1_ENST00000393476.3_In_Frame_Del_p.241_244SYRS>S|KANSL1_ENST00000574590.1_In_Frame_Del_p.947_950SYRS>S|KANSL1_ENST00000575318.1_In_Frame_Del_p.883_886SYRS>S	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	947	Sufficient for interaction with KAT8.				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)											GCCGTCTGATGACCTGTAGGACCTGCACA	0.565																																					p.948_950del													.	.			0			c.2842_2850del																																									SO:0001651	inframe_deletion	284058	exon14			TCTGATGACCTGT	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.2841_2849delCTACAGGTC	17.37:g.44109654_44109662delGACCTGTAG	ENSP00000262419:p.Ser947_Arg949del		21	0	0		29	0.38	11	NM_001193466	171	0	0	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	In_Frame_Del	DEL	ENST00000262419.6	37	CCDS11503.1																																																																																					0.565	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440274.1		NM_015443		-	44109662	GACCTGTAG	-	44109654	7	5	114	1	0	1	0	1	0	0	0	0	8234	1294	45	0	476	0	KIAA1267	17	44109654	In_Frame_Del	DEL	GACCTGTAG	TCGA-XE-AANJ-01A-11D-A435-10	4602643	44109654	37085556	56	8584											
ABCA9	10350	mdanderson.org	37	chr17	66992072	66992072	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagagccaatcaatgtgaaGggaggtattaacatggtgcc	14	8	13	6	0	1	2	1	1	0	1	1	4	1	3	2	3	3	1	2	3	5	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr17:66992072G>T	ENST00000340001.4	-	26	3730	c.3519C>A	c.(3517-3519)ccC>ccA	p.P1173P	ABCA9_ENST00000453985.2_Silent_p.P1135P|ABCA9_ENST00000370732.2_Silent_p.P1173P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1173					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)					TCAATGTGAAGGGAGGTATTA	0.383																																					p.P1173P													ABCA9,NS,malignant_melanoma,-2,2	ABCA9	-2	2	0			c.C3519A												141	129	133					17																	66992072		2203	4300	6503	SO:0001819	synonymous_variant	10350	exon26			TGTGAAGGGAGGT	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.3519C>A	17.37:g.66992072G>T			43	0	0		56	0.05	3	NM_080283	2	0	0	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	1.128	-0.653165	0.03480	.	.	ENSG00000154258	ENST00000453749	.	.	.	5.67	-0.159	0.13379	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52719	-0.8538	5	0.62326	D	0.03	.	2.0731	0.03618	0.2315:0.1319:0.5007:0.1359	.	.	.	.	I	1130	.	ENSP00000411523:L1130I	L	-	1	0	ABCA9	64503667	0.626000	0.27120	0.992000	0.48379	0.090000	0.18270	-0.240000	0.08952	0.053000	0.16036	0.609000	0.83330	CTT			0.383	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000277072.2		NM_172386		T	66992072	G	T	66992072	2	4	114	1	0	0	0	0	0	0	0	1	39	987	35	3		3	ABCA9	17	66992072	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	22882418	66992072	14203138	57	8585											
MAP2K2	5605	mdanderson.org	37	chr19	4110627	4110627	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggatgatctggttccggatGgccggcttgatctcaaggtg	6	11	15	9	3	2	2	1	2	2	0	4	4	3	4	2	6	0	2	2	6	1	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:4110627G>T	ENST00000262948.5	-	3	583	c.330C>A	c.(328-330)gcC>gcA	p.A110A	MAP2K2_ENST00000394867.4_Silent_p.A13A|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|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 autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						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)	Bosutinib(DB06616)|Trametinib(DB08911)	GGTTCCGGATGGCCGGCTTGA	0.612																																					p.A110A													.	.			0			c.C330A												68	56	60					19																	4110627		2203	4300	6503	SO:0001819	synonymous_variant	5605	exon3			CCGGATGGCCGGC	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.330C>A	19.37:g.4110627G>T			50	0	0		46	0.07	3	NM_030662	622	0	0		Silent	SNP	ENST00000262948.5	37	CCDS12120.1																																																																																					0.612	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258957.2				T	4110627	G	T	4110627	2	4	114	1	0	0	0	0	0	0	0	1	9253	1335	47	3		3	MAP2K2	19	4110627	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		4110627	55018356	58	8586											
LRG1	116844	mdanderson.org	37	chr19	4538473	4538473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcagtttccggaggcGgttcccagacaggtccagat	7	7	17	10	2	0	2	0	0	0	2	3	3	3	3	3	7	0	3	3	7	0	2	rs200192398		TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:4538473G>T	ENST00000306390.6	-	2	983	c.523C>A	c.(523-525)Cgc>Agc	p.R175S	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	175					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		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)		TTCCGGAGGCGGTTCCCAGAC	0.617																																					p.R175S													LRG1,colon,carcinoma,+1,1	LRG1	1	1	0			c.C523A												72	82	79					19																	4538473		2203	4300	6503	SO:0001583	missense	116844	exon2			GGAGGCGGTTCCC		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.523C>A	19.37:g.4538473G>T	ENSP00000302621:p.Arg175Ser		64	0	0		44	0.07	3	NM_052972	13	0	0	Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	5.545	0.285414	0.10513	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.58210	0.35	4.71	-0.2	0.13216	.	1.924680	0.02581	N	0.098913	T	0.42154	0.1190	L	0.39147	1.195	0.09310	N	0.999999	B	0.09022	0.002	B	0.16289	0.015	T	0.09796	-1.0658	10	0.34782	T	0.22	-1.2951	3.3363	0.07102	0.1715:0.1342:0.5572:0.1372	.	175	P02750	A2GL_HUMAN	S	175;158	ENSP00000302621:R175S	ENSP00000302621:R175S	R	-	1	0	LRG1	4489473	0.039000	0.19947	0.004000	0.12327	0.016000	0.09150	0.187000	0.16998	-0.303000	0.08856	-0.797000	0.03246	CGC			0.617	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458654.2		NM_052972		T	4538473	G	T	4538473	3	4	114	1	0	0	0	0	1	0	0	0	8958	1116	39	1	524	1	LRG1	19	4538473	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	427846	4538473	54590510	59	8587											
PLIN3	10226	hgsc.bcm.edu	37	chr19	4859920	4859920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcccttctctgctgcGtcgcagacagtcttgatgtg	5	13	9	14	2	3	2	1	1	2	1	6	2	4	2	1	0	2	2	1	0	0	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:4859920G>T	ENST00000221957.4	-	3	359	c.183C>A	c.(181-183)gaC>gaA	p.D61E	PLIN3_ENST00000585479.1_Missense_Mutation_p.D61E|PLIN3_ENST00000592528.1_Missense_Mutation_p.D61E	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	61					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TCTCTGCTGCGTCGCAGACAG	0.637																																					p.D61E													PLIN3,bladder,carcinoma,-2,1	PLIN3	-2	1	0			c.C183A												70	60	63					19																	4859920		2203	4300	6503	SO:0001583	missense	10226	exon3			TGCTGCGTCGCAG	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.183C>A	19.37:g.4859920G>T	ENSP00000221957:p.Asp61Glu		110	0	0		97	0.04	4	NM_001164189	178	0	0	A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	0.751	-0.772919	0.02951	.	.	ENSG00000105355	ENST00000221957	T	0.04654	3.58	4.76	1.23	0.21249	.	0.128037	0.51477	D	0.000099	T	0.05686	0.0149	N	0.20881	0.62	0.21220	N	0.999756	D;D	0.63880	0.991;0.993	P;P	0.61800	0.83;0.894	T	0.29243	-1.0018	10	0.09084	T	0.74	-8.6555	4.7598	0.13102	0.3146:0.0:0.5438:0.1416	.	61;61	O60664-3;O60664	.;PLIN3_HUMAN	E	61	ENSP00000221957:D61E	ENSP00000221957:D61E	D	-	3	2	PLIN3	4810920	0.003000	0.15002	0.286000	0.24833	0.271000	0.26615	-0.667000	0.05274	0.051000	0.15978	0.462000	0.41574	GAC			0.637	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000450436.1		NM_005817		T	4859920	G	T	4859920	3	4	114	1	0	0	0	0	1	0	0	0	12108	1136	40	1	1145	1	PLIN3	19	4859920	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	321447	4859920	54269063	60	8588											
ZNF564	163050	broad.mit.edu	37	chr19	12637879	12637879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcgaacattactggaaGaactgaaggttttaccacat	13	12	9	7	1	0	2	0	1	0	1	1	4	0	3	1	2	4	2	1	2	6	4			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:12637879G>T	ENST00000339282.7	-	4	1239	c.1043C>A	c.(1042-1044)tCt>tAt	p.S348Y	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	348					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						ATTACTGGAAGAACTGAAGGT	0.423																																					p.S348Y													.	ZNF564	55		0			c.C1043A												74	79	77					19																	12637879		2200	4297	6497	SO:0001583	missense	163050	exon4			CTGGAAGAACTGA	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.1043C>A	19.37:g.12637879G>T	ENSP00000340004:p.Ser348Tyr		126	0	0		95	0.04	4	NM_144976	42	0	0	B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	0.371	-0.934135	0.02340	.	.	ENSG00000249709	ENST00000339282	T	0.06608	3.28	1.71	-3.41	0.04839	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04861	0.0131	L	0.54965	1.715	0.09310	N	0.999999	B	0.20988	0.05	B	0.21708	0.036	T	0.50004	-0.8878	9	0.02654	T	1	.	5.2954	0.15749	0.0:0.3572:0.3218:0.321	.	348	Q8TBZ8	ZN564_HUMAN	Y	348	ENSP00000340004:S348Y	ENSP00000340004:S348Y	S	-	2	0	ZNF564	12498879	0.000000	0.05858	0.000000	0.03702	0.998000	0.95712	-4.116000	0.00292	-1.321000	0.02281	0.643000	0.83706	TCT			0.423	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344120.2		NM_144976		T	12637879	G	T	12637879	3	4	114	1	0	0	0	0	1	0	0	0	18018	942	33	3	622	3	ZNF564	19	12637879	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	7777959	12637879	46491104	61	8589											
ZNF676	163223	ucsc.edu	37	chr19	22363172	22363172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacattcttcacatttGtagggtttctctccagcatg	7	16	7	11	0	3	0	1	0	2	0	5	0	4	0	2	1	2	3	2	1	1	6			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:22363172G>A	ENST00000397121.2	-	3	1664	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	449					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCACATTTGTAGGGTTTCT	0.438																																					p.Y449Y													.	ZNF676	146		0			c.C1347T																																									SO:0001819	synonymous_variant	163223	exon3			ACATTTGTAGGGT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1347C>T	19.37:g.22363172G>A			55	0.0545454545	3		75	0.07	5	NM_001001411	125	0.13	16	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																					0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464392.1		NM_001001411		A	22363172	G	A	22363172	2	1	114	1	0	0	0	0	0	0	0	1	18106	1372	48	3		3	ZNF676	19	22363172	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	9725293	22363172	36765811	62	8590											
MAG	4099	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	35790585	35790585	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggccacgaggggctggggGagcccgctgtgctgggccgg	3	5	22	11	3	0	0	0	0	0	0	0	2	0	1	3	7	2	3	3	7	0	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:35790585G>T	ENST00000392213.3	+	5	703	c.544G>T	c.(544-546)Gag>Tag	p.E182*	MAG_ENST00000537831.2_Nonsense_Mutation_p.E157*|MAG_ENST00000597035.1_3'UTR|MAG_ENST00000361922.4_Nonsense_Mutation_p.E182*	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	182	Ig-like C2-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGGGCTGGGGGAGCCCGCTGT	0.711																																					p.E182X													.	.			0			c.G544T												13	16	15					19																	35790585		2195	4292	6487	SO:0001587	stop_gained	4099	exon5			CTGGGGGAGCCCG	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.544G>T	19.37:g.35790585G>T	ENSP00000376048:p.Glu182*		41	0	0		41	0.2	8	NM_080600	0		0	B7Z2E5|F5GYC0|Q567S4	Nonsense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	g	38	6.914203	0.97932	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	.	.	.	4.57	4.57	0.56435	.	0.171581	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	10.6849	0.45837	0.0:0.1941:0.8058:0.0	.	.	.	.	X	219;182;182;157	.	ENSP00000262624:E219X	E	+	1	0	MAG	40482425	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.692000	0.54727	2.361000	0.80049	0.306000	0.20318	GAG			0.711	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000466071.1		NM_080600		T	35790585	G	T	35790585	4	4	114	1	0	0	0	0	0	1	0	0	9178	1175	41	3	554	3	MAG	19	35790585	Nonsense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	13427413	35790585	23338398	63	8591											
RYR1	6261	mdanderson.org	37	chr19	38958374	38958374	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacaggcgagatgcgcgtGggctgggcgaggcccgagct	7	4	18	12	5	0	1	0	0	0	1	0	4	0	1	2	4	2	2	2	4	0	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:38958374G>T	ENST00000359596.3	+	25	3303	c.3303G>T	c.(3301-3303)gtG>gtT	p.V1101V	RYR1_ENST00000355481.4_Silent_p.V1101V|RYR1_ENST00000360985.3_Silent_p.V1101V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1101	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)	AGATGCGCGTGGGCTGGGCGA	0.627																																					p.V1101V													.	.			0			c.G3303T												88	73	78					19																	38958374		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon25			GCGCGTGGGCTGG	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.3303G>T	19.37:g.38958374G>T			51	0	0		46	0.07	3	NM_001042723	4	0.25	1	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																					0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462137.1				T	38958374	G	T	38958374	2	4	114	1	0	0	0	0	0	0	0	1	13791	1335	47	3		3	RYR1	19	38958374	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	3167789	38958374	20170609	64	8592											
LIPE	3991	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42912431	42912431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctccccgaaggacaccagcCcaatggagatggtctgcagg	10	5	13	13	1	1	1	0	0	1	1	2	4	2	2	4	4	2	2	4	4	2	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:42912431C>A	ENST00000244289.4	-	3	1739	c.1463G>T	c.(1462-1464)gGg>gTg	p.G488V	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	488					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGACACCAGCCCAATGGAGAT	0.622																																					p.G488V													.	.			0			c.G1463T												172	164	167					19																	42912431		2203	4300	6503	SO:0001583	missense	3991	exon3			ACCAGCCCAATGG	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.1463G>T	19.37:g.42912431C>A	ENSP00000244289:p.Gly488Val		129	0	0		102	0.26	27	NM_005357	112	0.28	31	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981361	0.53827	.	.	ENSG00000079435	ENST00000244289	T	0.36699	1.24	4.0	4.0	0.46444	Hormone-sensitive lipase, N-terminal (1);	0.156107	0.42821	D	0.000652	T	0.46190	0.1380	L	0.28115	0.83	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.984;1.0	T	0.42682	-0.9437	10	0.41790	T	0.15	-14.5888	15.401	0.74841	0.0:1.0:0.0:0.0	.	488;488	A8K8W7;Q05469	.;LIPS_HUMAN	V	488	ENSP00000244289:G488V	ENSP00000244289:G488V	G	-	2	0	LIPE	47604271	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.380000	0.73158	2.257000	0.74773	0.561000	0.74099	GGG			0.622	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463861.1		NM_005357		A	42912431	C	A	42912431	3	1	114	1	0	0	0	0	1	0	0	0	8836	623	22	3	1799	3	LIPE	19	42912431	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10	3954057	42912431	16216552	65	8593											
ZNF233	353355	ucsc.edu	37	chr19	44778238	44778238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcagagaatccacacTggagagaaaccctacaaatg	16	5	8	12	0	1	2	1	0	0	2	2	5	2	3	3	1	2	0	3	1	4	1			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:44778238T>C	ENST00000391958.2	+	5	1552	c.1425T>C	c.(1423-1425)acT>acC	p.T475T	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T457T|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GAATCCACACTGGAGAGAAAC	0.453																																					p.T475T													.	ZNF233	73		0			c.T1425C												56	62	60					19																	44778238		2203	4300	6503	SO:0001819	synonymous_variant	353355	exon5			CCACACTGGAGAG	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1425T>C	19.37:g.44778238T>C			72	0	0		82	0.01	1	NM_001207005	29	0.17	5	B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	CCDS33047.1																																																																																					0.453	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000460737.1		NM_181756		C	44778238	T	C	44778238	2	2	114	1	0	0	0	0	0	0	0	1	17809	1567	55	4		4	ZNF233	19	44778238	Silent	SNP	T	TCGA-XE-AANJ-01A-11D-A435-10	1865807	44778238	14350745	66	8594											
ZNF671	79891	broad.mit.edu	37	chr19	58232944	58232944	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggtatctttcaatattggGccacatatgtcacatgggtg	11	13	10	7	0	3	0	2	0	1	0	3	0	3	0	1	3	0	1	1	3	5	5			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr19:58232944G>T	ENST00000317398.6	-	4	605	c.510C>A	c.(508-510)ggC>ggA	p.G170G	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.G72G	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	170					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.G170G(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCAATATTGGGCCACATATGT	0.473																																					p.G170G													ZNF671,NS,carcinoma,0,1	ZNF671	55	1	1	Substitution - coding silent(1)	kidney(1)	c.C510A												148	141	144					19																	58232944		2203	4300	6503	SO:0001819	synonymous_variant	79891	exon4			TATTGGGCCACAT		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.510C>A	19.37:g.58232944G>T			183	0	0		188	0.02	4	NM_024833	11	0	0	A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	CCDS12961.1																																																																																					0.473	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466817.1		NM_024833		T	58232944	G	T	58232944	2	4	114	1	0	0	0	0	0	0	0	1	18101	1190	42	2		2	ZNF671	19	58232944	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	13454706	58232944	896039	67	8595											
UQCC	55245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr20	33891797	33891797	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgctctgaggattctTctccactagagggcgccagc	8	9	12	12	1	3	2	0	1	3	1	4	4	3	4	2	3	2	1	2	3	1	3			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr20:33891797T>A	ENST00000374385.5	-	10	1018	c.841A>T	c.(841-843)Aag>Tag	p.K281*	UQCC1_ENST00000374377.5_Nonsense_Mutation_p.K169*|UQCC1_ENST00000374384.2_Nonsense_Mutation_p.K255*|UQCC1_ENST00000359226.2_Nonsense_Mutation_p.K201*|UQCC1_ENST00000374380.2_Nonsense_Mutation_p.K213*|UQCC1_ENST00000349714.5_Nonsense_Mutation_p.K254*|UQCC1_ENST00000397556.3_Nonsense_Mutation_p.K182*|UQCC1_ENST00000407996.2_Nonsense_Mutation_p.K144*|UQCC1_ENST00000540457.1_Nonsense_Mutation_p.K126*	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	281						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TGAGGATTCTTCTCCACTAGA	0.612											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K281X													UQCC,NS,carcinoma,+1,1	UQCC	1	1	0			c.A841T												121	112	115					20																	33891797		2203	4300	6503	SO:0001587	stop_gained	55245	exon10			GATTCTTCTCCAC	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"Mitochondrial respiratory chain complex assembly factors"	15891	protein-coding gene	gene with protein product	"Basic FGF-repressed Zic-binding protein", "cytochrome B protein synthesis 3 homolog (S. cerevisiae)"	611797	"chromosome 20 open reading frame 44", "ubiquinol-cytochrome c reductase complex chaperone"	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.841A>T	20.37:g.33891797T>A	ENSP00000363506:p.Lys281*		156	0	0	843	135	0.22	30	NM_018244	57	0.26	15	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Nonsense_Mutation	SNP	ENST00000374385.5	37	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359419	0.61403	.	.	ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000374377;ENST00000397556;ENST00000407996;ENST00000540457;ENST00000424405	.	.	.	4.99	4.99	0.66335	.	0.246048	0.39407	N	0.001377	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7738	14.3226	0.66496	0.0:0.0:0.0:1.0	.	.	.	.	X	254;201;255;213;281;169;182;144;126;249	.	ENSP00000335364:K254X	K	-	1	0	UQCC	33355211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.923000	0.40055	2.239000	0.73571	0.533000	0.62120	AAG			0.612	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078866.1		NM_018244		A	33891797	T	A	33891797	4	1	114	1	0	0	0	0	0	1	0	0	17039	1792	62	5	62	5	UQCC	20	33891797	Nonsense_Mutation	SNP	T	TCGA-XE-AANJ-01A-11D-A435-10		33891797	29133723	68	8596											
C20orf117	140710	broad.mit.edu	37	chr20	35443918	35443918	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctggctctgcagagtcGgaccgcatgggactcgtgtg	5	9	14	13	3	1	1	0	0	1	1	4	3	2	3	2	3	1	3	2	3	0	0			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr20:35443918G>T	ENST00000357779.3	-	5	1539	c.1213C>A	c.(1213-1215)Cga>Aga	p.R405R	SOGA1_ENST00000456801.2_Silent_p.R246R|SOGA1_ENST00000279034.6_Silent_p.R405R|SOGA1_ENST00000237536.4_Silent_p.R643R			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	405					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTGCAGAGTCGGACCGCATGG	0.677																																					p.R643R													SOGA1_ENST00000237536,bladder,carcinoma,+1,4	SOGA1	136	4	0			c.C1927A												10	12	11					20																	35443918		2184	4279	6463	SO:0001819	synonymous_variant	140710	exon5			AGAGTCGGACCGC	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1213C>A	20.37:g.35443918G>T			68	0	0		60	0.05	3	NM_080627	12	0	0	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																						0.677	SOGA1-201	KNOWN	basic	protein_coding	protein_coding				NM_199181		T	35443918	G	T	35443918	2	4	114	1	0	0	0	0	0	0	0	1	2085	1124	39	1		1	C20orf117	20	35443918	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	1552121	35443918	27581602	69	8597											
DOPEY2	9980	broad.mit.edu	37	chr21	37609660	37609660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcactgcctggcccctaCggccaacatctgcgaggaca	8	6	11	16	2	1	0	0	0	1	0	1	2	1	1	4	3	5	2	4	3	2	1	rs541281990		TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr21:37609660C>T	ENST00000399151.3	+	16	2808	c.2723C>T	c.(2722-2724)aCg>aTg	p.T908M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	908					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.T908M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGCCCCTACGGCCAACATC	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		17497	0		0	False		,,,				2504	0				p.T908M													DOPEY2,NS,carcinoma,0,1	DOPEY2	184	1	1	Substitution - Missense(1)	ovary(1)	c.C2723T												104	79	88					21																	37609660		2203	4300	6503	SO:0001583	missense	9980	exon16			CCCCTACGGCCAA	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2723C>T	21.37:g.37609660C>T	ENSP00000382104:p.Thr908Met		98	0	0		98	0.04	4	NM_005128	27	0	0	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486356	0.84854	.	.	ENSG00000142197	ENST00000399151	T	0.66995	-0.24	5.42	5.42	0.78866	.	0.124012	0.56097	D	0.000027	T	0.67477	0.2897	L	0.44542	1.39	0.44104	D	0.996879	D	0.65815	0.995	P	0.47251	0.542	T	0.71955	-0.4436	10	0.72032	D	0.01	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	908	Q9Y3R5	DOP2_HUMAN	M	908	ENSP00000382104:T908M	ENSP00000382104:T908M	T	+	2	0	DOPEY2	36531530	0.998000	0.40836	0.046000	0.18839	0.931000	0.56810	7.321000	0.79088	2.545000	0.85829	0.591000	0.81541	ACG			0.612	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194636.1		NM_005128		T	37609660	C	T	37609660	3	4	114	1	0	0	0	0	1	0	0	0	4713	536	19	1	2781	1	DOPEY2	21	37609660	Missense_Mutation	SNP	C	TCGA-XE-AANJ-01A-11D-A435-10		37609660	10520235	70	8598											
ITGB2	3689	mdanderson.org	37	chr21	46308741	46308741	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggttgttcgacagctgcagGcccggacacgccgcgctgca	6	6	15	14	5	0	0	0	0	0	0	1	2	0	1	2	3	3	6	2	3	0	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr21:46308741G>T	ENST00000397850.2	-	15	2399	c.1947C>A	c.(1945-1947)ggC>ggA	p.G649G	ITGB2_ENST00000302347.5_Silent_p.G649G|ITGB2_ENST00000397854.3_Silent_p.G592G|ITGB2_ENST00000355153.4_Silent_p.G649G|ITGB2_ENST00000397852.1_Silent_p.G649G|ITGB2_ENST00000397857.1_Silent_p.G649G			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	649					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	ACAGCTGCAGGCCCGGACACG	0.662																																					p.G649G													.	.			0			c.C1947A												65	60	62					21																	46308741		2203	4300	6503	SO:0001819	synonymous_variant	3689	exon14			CTGCAGGCCCGGA	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1947C>A	21.37:g.46308741G>T			33	0	0		38	0.08	3	NM_001127491	617	0	0	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	CCDS13716.1																																																																																					0.662	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206566.2		NM_000211		T	46308741	G	T	46308741	2	4	114	1	0	0	0	0	0	0	0	1	7909	1190	42	2		2	ITGB2	21	46308741	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	8699081	46308741	1821154	71	8599											
IL17RA	23765	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	17589771	17589771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccgcgtaggggagctgtcGggggacaactacctgcggag	8	5	17	11	4	0	0	0	0	0	0	1	3	0	3	2	5	4	2	2	5	3	2			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr22:17589771G>A	ENST00000319363.6	+	13	1795	c.1662G>A	c.(1660-1662)tcG>tcA	p.S554S		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	554					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)		GGGAGCTGTCGGGGGACAACT	0.682																																					p.S554S													.	IL17RA	62		0			c.G1662A												19	18	18					22																	17589771		2195	4297	6492	SO:0001819	synonymous_variant	23765	exon13			GCTGTCGGGGGAC	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.1662G>A	22.37:g.17589771G>A			66	0.0151515152	1		60	0.18	11	NM_014339	47	0.19	9	O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	CCDS13739.1																																																																																					0.682	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315820.1		NM_014339		A	17589771	G	A	17589771	2	1	114	1	0	0	0	0	0	0	0	1	7654	1103	39	1		1	IL17RA	22	17589771	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10		17589771	33714795	72	8600											
CCDC157	550631	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr22	30771567	30771567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagtccaacgacatccGcatccgggtcctacaggagg	10	6	12	13	3	0	0	0	0	0	0	4	2	4	1	4	3	3	2	4	3	2	1	rs368250287		TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr22:30771567G>A	ENST00000405659.1	+	10	2481	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.R591H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	591										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AACGACATCCGCATCCGGGTC	0.592																																					p.R591H													.	.			0			c.G1772A							G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	95	79	84		1772	5.2	1	22		84	0,8600		0,0,4300	no	missense	CCDC157	NM_001017437.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	591/753	30771567	1,13005	2203	4300	6503	SO:0001583	missense	550631	exon10			ACATCCGCATCCG	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1772G>A	22.37:g.30771567G>A	ENSP00000385357:p.Arg591His		107	0	0		97	0.05	5	NM_001017437	19	0	0	Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913796	0.92178	2.27E-4	0.0	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.77620	-1.11;-1.11	5.24	5.24	0.73138	.	0.059115	0.64402	D	0.000005	D	0.86552	0.5960	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87709	0.2565	10	0.72032	D	0.01	-21.2246	16.6295	0.85029	0.0:0.0:1.0:0.0	.	591	Q569K6	CC157_HUMAN	H	591	ENSP00000385357:R591H;ENSP00000343087:R591H	ENSP00000343087:R591H	R	+	2	0	CCDC157	29101567	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.209000	0.65208	2.445000	0.82738	0.655000	0.94253	CGC			0.592	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320936.1		NM_001017437		A	30771567	G	A	30771567	3	1	114	1	0	0	0	0	1	0	0	0	2791	1087	38	1	1802	1	CCDC157	22	30771567	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	13181796	30771567	20532999	73	8601											
GGA1	26088	broad.mit.edu	37	chr22	38027039	38027039	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagccccccaggcctccGcagcagcccgtaccaaccga	9	2	9	21	3	0	1	0	0	0	1	1	2	1	1	9	1	5	3	9	1	2	1	rs138927569		TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr22:38027039G>T	ENST00000343632.4	+	14	1847	c.1461G>T	c.(1459-1461)ccG>ccT	p.P487P	GGA1_ENST00000406772.1_Silent_p.P414P|GGA1_ENST00000381756.5_Silent_p.P504P|GGA1_ENST00000325180.8_Silent_p.P400P|GGA1_ENST00000337437.4_Silent_p.P454P	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	487	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCAGGCCTCCGCAGCAGCCCG	0.657																																					p.P487P													GGA1,NS,carcinoma,+1,1	GGA1	39	1	0			c.G1461T												68	73	71					22																	38027039		2203	4300	6503	SO:0001819	synonymous_variant	26088	exon14			GCCTCCGCAGCAG	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.1461G>T	22.37:g.38027039G>T			120	0	0		111	0.05	5	NM_013365	309	0	0	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Silent	SNP	ENST00000343632.4	37	CCDS13951.1																																																																																					0.657	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075873.3		NM_013365		T	38027039	G	T	38027039	2	4	114	1	0	0	0	0	0	0	0	1	6366	1074	38	1		1	GGA1	22	38027039	Silent	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	7255472	38027039	13277527	74	8602											
MKL1	57591	mdanderson.org	37	chr22	40815349	40815349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttttggtgcccgagacagGcagtgatcgcaacttcagct	9	10	12	10	2	1	2	1	1	0	1	2	3	1	2	1	2	3	4	1	2	1	3			TCGA-XE-AANJ-01A-11D-A435-10	TCGA-XE-AANJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a43cd317-9fe6-401e-971c-f82498898d79	c84ec2ea-8d3d-4b69-a6eb-e4d3ac9e0e18	g.chr22:40815349G>T	ENST00000355630.3	-	12	1683	c.1093C>A	c.(1093-1095)Cct>Act	p.P365T	MKL1_ENST00000402042.1_Missense_Mutation_p.P315T|MKL1_ENST00000407029.1_Missense_Mutation_p.P365T|MKL1_ENST00000396617.3_Missense_Mutation_p.P365T	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	365	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				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						CCCGAGACAGGCAGTGATCGC	0.622			T	RBM15	acute megakaryocytic leukemia																																p.P365T				Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	.	.			0			c.C1093A												51	50	50					22																	40815349		2203	4300	6503	SO:0001583	missense	57591	exon12			AGACAGGCAGTGA	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.1093C>A	22.37:g.40815349G>T	ENSP00000347847:p.Pro365Thr		60	0	0		47	0.06	3	NM_020831	52	0	0	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932830	0.73442	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.57436	0.46;0.41;0.4;0.46	5.03	5.03	0.67393	DNA-binding SAP (4);	0.115412	0.64402	D	0.000012	T	0.67841	0.2936	L	0.48935	1.535	0.58432	D	0.999996	D;D;D	0.89917	0.957;1.0;1.0	P;D;D	0.91635	0.71;0.999;0.999	T	0.68784	-0.5317	10	0.56958	D	0.05	-18.6651	18.5611	0.91100	0.0:0.0:1.0:0.0	.	315;365;365	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	T	365;365;315;365	ENSP00000347847:P365T;ENSP00000379861:P365T;ENSP00000385584:P315T;ENSP00000385835:P365T	ENSP00000347847:P365T	P	-	1	0	MKL1	39145295	1.000000	0.71417	0.815000	0.32552	0.801000	0.45260	4.345000	0.59360	2.613000	0.88420	0.655000	0.94253	CCT			0.622	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321522.1		NM_020831		T	40815349	G	T	40815349	3	4	114	1	0	0	0	0	1	0	0	0	9617	1203	42	2	1718	2	MKL1	22	40815349	Missense_Mutation	SNP	G	TCGA-XE-AANJ-01A-11D-A435-10	2788310	40815349	10489217	75	8603											
AGRN	375790	mdanderson.org	37	chr1	955749	955749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagcacacgtactcctGcaaggtgcgcccacccggac	8	5	12	16	3	0	0	0	0	0	0	1	1	1	1	3	3	5	4	3	3	2	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:955749G>T	ENST00000379370.2	+	1	247	c.197G>T	c.(196-198)tGc>tTc	p.C66F		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	66	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACGTACTCCTGCAAGGTGCGC	0.756																																					p.C66F													.	.			0			c.G197T												10	8	8					1																	955749		1550	2806	4356	SO:0001583	missense	375790	exon1			ACTCCTGCAAGGT	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.197G>T	1.37:g.955749G>T	ENSP00000368678:p.Cys66Phe		47	0	0		25	0.12	3	NM_198576	4	0	0	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914123	0.52546	.	.	ENSG00000188157	ENST00000379370	T	0.39406	1.08	2.24	2.24	0.28232	Agrin NtA (2);Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.000000	0.35349	U	0.003270	T	0.49081	0.1536	L	0.29908	0.895	0.46203	D	0.998927	D	0.76494	0.999	D	0.87578	0.998	T	0.52631	-0.8550	10	0.72032	D	0.01	.	11.6222	0.51124	0.0:0.0:1.0:0.0	.	66	O00468	AGRIN_HUMAN	F	66	ENSP00000368678:C66F	ENSP00000368678:C66F	C	+	2	0	AGRN	945612	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	8.021000	0.88750	1.283000	0.44513	0.472000	0.43445	TGC			0.756	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097990.2		NM_198576		T	955749	G	T	955749	3	4	115	1	0	0	0	0	1	0	0	0	397	1319	46	2	199	2	AGRN	1	955749	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		955749	248294872	1	8604											
KIF1B	23095	broad.mit.edu;mdanderson.org	37	chr1	10355744	10355744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcagatgctgagcggcGccaggacatagtgctgagcg	10	5	15	11	3	0	3	0	2	0	1	0	4	0	4	2	2	5	3	2	2	2	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:10355744G>A	ENST00000377086.1	+	19	1899	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H	KIF1B_ENST00000377083.1_Missense_Mutation_p.R520H|KIF1B_ENST00000377081.1_Missense_Mutation_p.R566H|KIF1B_ENST00000377093.4_Missense_Mutation_p.R520H|KIF1B_ENST00000263934.6_Missense_Mutation_p.R520H			O60333	KIF1B_HUMAN	kinesin family member 1B	566	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				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)		GCTGAGCGGCGCCAGGACATA	0.502																																					p.R520H													.	KIF1B	242		0			c.G1559A												81	87	85					1																	10355744		2203	4300	6503	SO:0001583	missense	23095	exon17			AGCGGCGCCAGGA	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.1697G>A	1.37:g.10355744G>A	ENSP00000366290:p.Arg566His		105	0	0		66	0.06	4	NM_183416	2	0	0	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	26.3	4.727684	0.89390	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	6.07	6.07	0.98685	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.90532	0.7033	L	0.48877	1.53	0.80722	D	1	P;P;B;P;B;D;P	0.69078	0.603;0.607;0.391;0.894;0.4;0.997;0.525	B;B;B;B;B;P;B	0.60236	0.315;0.333;0.263;0.36;0.087;0.871;0.098	D	0.88666	0.3192	10	0.38643	T	0.18	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	552;526;566;540;566;520;520	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	H	566;520;520;566;520;566	ENSP00000263934:R520H;ENSP00000366297:R520H;ENSP00000366290:R566H;ENSP00000366287:R520H;ENSP00000366284:R566H	ENSP00000263934:R520H	R	+	2	0	KIF1B	10278331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CGC			0.502	KIF1B-001	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000005102.1				A	10355744	G	A	10355744	3	1	115	1	0	0	0	0	1	0	0	0	8299	1087	38	1	1621	1	KIF1B	1	10355744	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	9399995	10355744	238894877	2	8605											
PADI3	51702	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	17607185	17607185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcatcgactggaaccGtgaggtgctgaagcgggagc	9	6	17	9	3	0	2	0	2	0	0	1	6	0	4	1	3	6	3	1	3	2	0	rs146338253	byFrequency	TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:17607185G>A	ENST00000375460.3	+	15	1695	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	552					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GACTGGAACCGTGAGGTGCTG	0.597																																					p.R552H													PADI3,NS,carcinoma,+1,1	PADI3	1	1	0			c.G1655A												92	91	91					1																	17607185		2203	4300	6503	SO:0001583	missense	51702	exon15			GGAACCGTGAGGT	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1655G>A	1.37:g.17607185G>A	ENSP00000364609:p.Arg552His		124	0	0		92	0.1	9	NM_016233	0		0	Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894361	0.72639	.	.	ENSG00000142619	ENST00000375460	T	0.34667	1.35	4.43	4.43	0.53597	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	M	0.86343	2.81	0.51233	D	0.999916	D	0.89917	1.0	D	0.87578	0.998	T	0.72734	-0.4204	10	0.62326	D	0.03	-22.8206	16.002	0.80301	0.0:0.0:1.0:0.0	.	552	Q9ULW8	PADI3_HUMAN	H	552	ENSP00000364609:R552H	ENSP00000364609:R552H	R	+	2	0	PADI3	17479772	1.000000	0.71417	0.999000	0.59377	0.433000	0.31745	9.276000	0.95745	2.202000	0.70862	0.313000	0.20887	CGT			0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006805.1				A	17607185	G	A	17607185	3	1	115	1	0	0	0	0	1	0	0	0	11396	1145	40	1	1713	1	PADI3	1	17607185	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	7251441	17607185	231643436	3	8606											
PUM1	9698	mdanderson.org	37	chr1	31426815	31426815	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtatcttccactgccAttcgtgagtcctcctgttgg	6	14	10	11	1	1	2	0	1	1	1	5	3	4	2	4	1	1	2	4	1	1	4	rs2275741	byFrequency	TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:31426815A>T	ENST00000257075.5	-	15	2430	c.2337T>A	c.(2335-2337)aaT>aaA	p.N779K	PUM1_ENST00000440538.2_Missense_Mutation_p.N753K|PUM1_ENST00000373747.3_Missense_Mutation_p.N780K|PUM1_ENST00000423018.2_Missense_Mutation_p.N635K|PUM1_ENST00000424085.2_Missense_Mutation_p.N537K|PUM1_ENST00000373741.4_Missense_Mutation_p.N815K|PUM1_ENST00000373742.2_Missense_Mutation_p.N720K|PUM1_ENST00000426105.2_Missense_Mutation_p.N779K	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	779	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTCCACTGCCATTCGTGAGTC	0.512																																					p.N779K													.	.			0			c.T2337A												80	83	82					1																	31426815		2203	4300	6503	SO:0001583	missense	9698	exon15			ACTGCCATTCGTG	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.2337T>A	1.37:g.31426815A>T	ENSP00000257075:p.Asn779Lys		75	0	0		51	0.04	2	NM_014676	14	0	0	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.936958|3.936958	0.73557|0.73557	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T|.	0.19250|.	2.23;2.16;2.44;2.43;2.5;2.42;2.53;2.2|.	6.02|6.02	-4.63|-4.63	0.03359|0.03359	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61899|0.61899	0.2384|0.2384	M|M	0.63843|0.63843	1.955|1.955	0.09310|0.09310	P|P	0.99999854687|0.99999854687	D;P;P;D;D;P;P;D|.	0.55605|.	0.972;0.949;0.949;0.97;0.972;0.629;0.949;0.972|.	P;P;P;P;P;B;P;P|.	0.58454|.	0.694;0.776;0.694;0.839;0.694;0.416;0.694;0.694|.	T|T	0.66176|0.66176	-0.5989|-0.5989	9|4	0.62326|.	D|.	0.03|.	-8.7022|-8.7022	16.103|16.103	0.81201|0.81201	0.8127:0.0:0.1873:0.0|0.8127:0.0:0.1873:0.0	.|.	720;635;815;753;779;779;780;779|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	K|R	537;779;780;517;779;753;815;635;720|718;491	ENSP00000400141:N537K;ENSP00000257075:N779K;ENSP00000362852:N780K;ENSP00000391723:N779K;ENSP00000401777:N753K;ENSP00000362846:N815K;ENSP00000399440:N635K;ENSP00000362847:N720K|.	ENSP00000257075:N779K|.	N|W	-|-	3|1	2|0	PUM1|PUM1	31199402|31199402	0.053000|0.053000	0.20554|0.20554	0.831000|0.831000	0.32960|0.32960	0.925000|0.925000	0.55904|0.55904	-0.433000|-0.433000	0.06948|0.06948	-1.276000|-1.276000	0.02414|0.02414	-1.551000|-1.551000	0.00897|0.00897	AAT|TGG			0.512	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000010671.1				T	31426815	A	T	31426815	3	4	115	1	0	0	0	0	1	0	0	0	12848	214	8	5	1261	5	PUM1	1	31426815	Missense_Mutation	SNP	A	TCGA-XE-AANR-01A-11D-A435-10	13819630	31426815	217823806	4	8607											
MACF1	23499	broad.mit.edu	37	chr1	39801335	39801335	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatgacctcaagtgaaaaAgggaaagaagctgatacaga	20	5	11	5	0	1	5	1	3	0	2	1	7	1	6	1	1	2	1	1	1	7	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:39801335A>G	ENST00000372915.3	+	36	9177	c.9090A>G	c.(9088-9090)aaA>aaG	p.K3030K	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Silent_p.K3025K|MACF1_ENST00000567887.1_Silent_p.K3062K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.K1465K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3030					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)	p.K1465K(1)		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)			CAAGTGAAAAAGGGAAAGAAG	0.368																																					.													MACF1,NS,carcinoma,0,1	MACF1	909	1	1	Substitution - coding silent(1)	lung(1)	.												63	67	66					1																	39801335		2203	4300	6503	SO:0001819	synonymous_variant	23499	.			TGAAAAAGGGAAA	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.9090A>G	1.37:g.39801335A>G			284	0	0		211	0.03	6	.	0		0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37																																																																																						0.368	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding		OTTHUMT00000392096.1		NM_033044		G	39801335	A	G	39801335	2	3	115	1	0	0	0	0	0	0	0	1	9160	69	3	4		4	MACF1	1	39801335	Silent	SNP	A	TCGA-XE-AANR-01A-11D-A435-10	8374520	39801335	209449286	5	8608											
COL9A2	1298	mdanderson.org	37	chr1	40775830	40775830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgcctttatatccatGagggccctggggagaggaaa	11	8	12	10	0	0	2	0	1	0	1	1	4	1	3	4	4	1	0	4	4	3	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:40775830G>T	ENST00000372748.3	-	15	841	c.745C>A	c.(745-747)Cat>Aat	p.H249N		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	249	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TTATATCCATGAGGGCCCTGG	0.587																																					p.H249N													.	.			0			c.C745A												62	66	64					1																	40775830		2203	4300	6503	SO:0001583	missense	1298	exon15			ATCCATGAGGGCC	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.745C>A	1.37:g.40775830G>T	ENSP00000361834:p.His249Asn		52	0	0		28	0.11	3	NM_001852	3	0	0	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	9.784	1.176155	0.21704	.	.	ENSG00000049089	ENST00000372748	D	0.94046	-3.34	4.12	4.12	0.48240	.	0.808768	0.11718	N	0.536225	D	0.84297	0.5441	N	0.10809	0.05	0.19300	N	0.999979	B	0.06786	0.001	B	0.06405	0.002	T	0.69877	-0.5026	10	0.15952	T	0.53	.	10.2144	0.43160	0.0:0.2024:0.7976:0.0	.	249	Q14055	CO9A2_HUMAN	N	249	ENSP00000361834:H249N	ENSP00000361834:H249N	H	-	1	0	COL9A2	40548417	0.687000	0.27671	0.977000	0.42913	0.475000	0.33008	1.657000	0.37366	2.313000	0.78055	0.558000	0.71614	CAT			0.587	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000015764.3		NM_001852		T	40775830	G	T	40775830	3	4	115	1	0	0	0	0	1	0	0	0	3710	1290	45	3	1396	3	COL9A2	1	40775830	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	974495	40775830	208474791	6	8609											
NRD1	114883	bcgsc.ca	37	chr1	52255291	52255291	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgggccttgaaccagttGaccaggtctgattttgagaa	10	12	11	8	0	1	4	0	4	1	1	1	5	1	4	3	2	1	1	3	2	3	5			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:52255291G>T	ENST00000428468.1	+	0	2893				NRD1_ENST00000352171.7_Silent_p.V1069V|NRD1_ENST00000354831.7_Silent_p.V1137V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Silent_p.V1005V			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						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						TGAACCAGTTGACCAGGTCTG	0.408																																					p.V1137V													.	NRD1	89		0			c.C3411A												117	110	113					1																	52255291		2203	4300	6503	SO:0001628	intergenic_variant	4898	exon32			CCAGTTGACCAGG	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		1.37:g.52255291G>T			81	0	0		47	0.09	4	NM_002525	215	0	0	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	37	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	7.674	0.687527	0.14973	.	.	ENSG00000078618	ENST00000440943	.	.	.	4.98	1.96	0.26148	.	.	.	.	.	T	0.56062	0.1960	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	T	0.49899	-0.8890	4	.	.	.	-9.5244	8.0416	0.30526	0.2165:0.1287:0.6547:0.0	.	.	.	.	K	456	.	.	Q	-	1	0	NRD1	52027879	0.052000	0.20516	0.933000	0.37362	0.992000	0.81027	0.165000	0.16564	0.720000	0.32209	0.650000	0.86243	CAA			0.408	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000022584.4				T	52255291	G	T	52255291	1	4	115	0	1	0	0	0	0	0	0	0	10662	1277	45	3		3	NRD1	1	52255291	IGR	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	11479461	52255291	196995330	7	8610											
DOCK7	85440	mdanderson.org	37	chr1	62970399	62970399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacagtgtcggagaagccTgaggcataaatcagcacact	13	7	11	10	1	1	2	1	1	0	1	2	3	1	2	1	2	3	3	1	2	4	2			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:62970399T>C	ENST00000340370.5	-	36	4590	c.4573A>G	c.(4573-4575)Agg>Ggg	p.R1525G	DOCK7_ENST00000251157.5_Missense_Mutation_p.R1547G	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1556					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						CGGAGAAGCCTGAGGCATAAA	0.423																																					p.R1547G													.	.			0			c.A4639G												90	84	86					1																	62970399		2203	4300	6503	SO:0001583	missense	85440	exon37			GAAGCCTGAGGCA		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.4573A>G	1.37:g.62970399T>C	ENSP00000340742:p.Arg1525Gly		76	0.0131578947	1		45	0.07	3	NM_001271999	14	0	0	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.25|17.25	3.342298|3.342298	0.61073|0.61073	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.62788	.|0.0;0.0	5.15|5.15	3.2|3.2	0.36748|0.36748	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76083|0.76083	0.3938|0.3938	M|M	0.65975|0.65975	2.015|2.015	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D	.|0.76494	.|0.998;0.998;0.999;0.999;0.992;0.967	.|D;D;D;D;D;P	.|0.85130	.|0.936;0.964;0.997;0.997;0.917;0.879	T|T	0.76564|0.76564	-0.2913|-0.2913	5|10	.|0.54805	.|T	.|0.06	.|.	14.2696|14.2696	0.66143|0.66143	0.0:0.0:0.5567:0.4433|0.0:0.0:0.5567:0.4433	.|.	.|1556;1547;1525;1516;1516;1547	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	R|G	718|1556;1547;1525;286	.|ENSP00000251157:R1547G;ENSP00000340742:R1525G	.|ENSP00000251157:R1547G	Q|R	-|-	2|1	0|2	DOCK7|DOCK7	62742987|62742987	0.962000|0.962000	0.33011|0.33011	0.992000|0.992000	0.48379|0.48379	0.916000|0.916000	0.54674|0.54674	1.160000|1.160000	0.31761|0.31761	0.505000|0.505000	0.28104|0.28104	-0.316000|-0.316000	0.08728|0.08728	CAG|AGG			0.423	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036806.1		NM_033407		C	62970399	T	C	62970399	3	2	115	1	0	0	0	0	1	0	0	0	4697	1579	55	4	1812	4	DOCK7	1	62970399	Missense_Mutation	SNP	T	TCGA-XE-AANR-01A-11D-A435-10	10715108	62970399	186280222	8	8611											
FAM40A	85369	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	110596376	110596376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcccggcgctatgaccggGcccacagcaaccctgacttc	8	5	10	18	4	0	2	0	2	0	0	1	2	0	2	4	2	2	2	4	2	2	2			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:110596376G>A	ENST00000369795.3	+	21	2378	c.2356G>A	c.(2356-2358)Gcc>Acc	p.A786T	STRIP1_ENST00000369796.1_Missense_Mutation_p.A691T	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	786					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CTATGACCGGGCCCACAGCAA	0.587											OREG0013647	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A786T													.	.			0			c.G2356A												55	52	53					1																	110596376		2203	4300	6503	SO:0001583	missense	85369	exon21			GACCGGGCCCACA	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.2356G>A	1.37:g.110596376G>A	ENSP00000358810:p.Ala786Thr		106	0	0	1428	101	0.32	32	NM_033088	69	0.26	18	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524501	0.44969	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.44083	0.93;0.94	6.07	-0.355	0.12587	.	0.311519	0.40144	N	0.001173	T	0.04861	0.0131	N	0.01352	-0.895	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.002;0.006	T	0.28902	-1.0029	10	0.12766	T	0.61	-3.9429	11.4942	0.50398	0.5536:0.0:0.4464:0.0	.	691;786	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	T	691;786	ENSP00000358811:A691T;ENSP00000358810:A786T	ENSP00000358810:A786T	A	+	1	0	FAM40A	110397899	1.000000	0.71417	0.852000	0.33557	0.998000	0.95712	1.042000	0.30303	0.025000	0.15241	0.655000	0.94253	GCC			0.587	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032213.1		NM_033088		A	110596376	G	A	110596376	3	1	115	1	0	0	0	0	1	0	0	0	5573	1203	42	2	2438	2	FAM40A	1	110596376	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	47625977	110596376	138654245	9	8612											
ADAMTSL4	54507	mdanderson.org	37	chr1	150530476	150530476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggccccggcacccagCaccgccagctgcagtgccgg	5	4	13	19	3	0	0	0	0	0	0	0	0	0	0	7	3	4	4	7	3	0	0			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr1:150530476C>T	ENST00000369038.2	+	12	2434	c.2233C>T	c.(2233-2235)Cac>Tac	p.H745Y	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.H768Y|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.H745Y|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.H745Y			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	745	TSP type-1 2. {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)			CGGCACCCAGCACCGCCAGCT	0.687																																					p.H745Y													.	.			0			c.C2233T												24	29	27					1																	150530476		2105	4173	6278	SO:0001583	missense	54507	exon14			ACCCAGCACCGCC	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.2233C>T	1.37:g.150530476C>T	ENSP00000358034:p.His745Tyr		47	0	0		43	0.07	3	NM_019032	13	0	0	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139823	0.94560	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.92	5.92	0.95590	.	.	.	.	.	T	0.41003	0.1140	N	0.16790	0.44	0.53688	D	0.99997	P;B;P;D	0.58970	0.936;0.2;0.892;0.984	P;B;P;P	0.57846	0.806;0.198;0.806;0.828	T	0.38222	-0.9671	9	0.51188	T	0.08	.	17.8145	0.88627	0.0:1.0:0.0:0.0	.	706;768;745;745	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	Y	745;745;283;768;745	ENSP00000358037:H745Y;ENSP00000271643:H745Y;ENSP00000358035:H768Y;ENSP00000358034:H745Y	ENSP00000271643:H745Y	H	+	1	0	ADAMTSL4	148797100	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.644000	0.67902	2.813000	0.96785	0.561000	0.74099	CAC			0.687	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084395.4		NM_019032		T	150530476	C	T	150530476	3	4	115	1	0	0	0	0	1	0	0	0	277	710	25	2	2279	2	ADAMTSL4	1	150530476	Missense_Mutation	SNP	C	TCGA-XE-AANR-01A-11D-A435-10	39934100	150530476	98720145	10	8613											
NBAS	51594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	15557681	15557681	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatcttagtttttcaatGtctttcatctgctggagttc	8	19	7	7	0	5	0	2	0	3	0	6	1	5	1	0	1	1	4	0	1	3	6			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr2:15557681G>A	ENST00000281513.5	-	24	2758	c.2733C>T	c.(2731-2733)gaC>gaT	p.D911D	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	911					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTTTTTCAATGTCTTTCATCT	0.333																																					p.D911D													.	.			0			c.C2733T												82	75	77					2																	15557681		2203	4300	6503	SO:0001819	synonymous_variant	51594	exon24			TTCAATGTCTTTC	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2733C>T	2.37:g.15557681G>A			262	0	0		260	0.23	59	NM_015909	15	0.13	2	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	8.531	0.871029	0.17322	.	.	ENSG00000151779	ENST00000429842	.	.	.	5.72	1.9	0.25705	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45498	-0.9257	4	.	.	.	.	7.3035	0.26434	0.1931:0.0:0.6881:0.1188	.	.	.	.	Y	9	.	.	H	-	1	0	NBAS	15475132	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.019000	0.49635	0.367000	0.24454	-0.237000	0.12165	CAT			0.333	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241638.1		NM_015909		A	15557681	G	A	15557681	2	1	115	1	0	0	0	0	0	0	0	1	10202	1368	48	3		3	NBAS	2	15557681	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		15557681	227641692	11	8614											
CMTM8	152189	broad.mit.edu	37	chr3	32280541	32280541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagagaacttctccaccaGcagcagcagcttcgcctacg	10	6	9	16	3	1	1	0	0	1	1	3	2	1	1	3	0	6	5	3	0	2	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr3:32280541G>C	ENST00000307526.3	+	1	371	c.77G>C	c.(76-78)aGc>aCc	p.S26T	RP11-384L8.1_ENST00000565519.1_RNA|CMTM8_ENST00000458535.2_Missense_Mutation_p.S26T	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	26					chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TTCTCCACCAGCAGCAGCAGC	0.706																																					p.S26T													.	CMTM8	9		0			c.G77C												29	28	28					3																	32280541		2195	4297	6492	SO:0001583	missense	152189	exon1			CCACCAGCAGCAG	AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"chemokine-like factor super family 8", "chemokine-like factor superfamily 8"	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.77G>C	3.37:g.32280541G>C	ENSP00000307741:p.Ser26Thr		260	0	0		178	0.02	4	NM_178868	2	0	0	A5D6I7|Q8IW01	Missense_Mutation	SNP	ENST00000307526.3	37	CCDS2652.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479469	0.26511	.	.	ENSG00000170293	ENST00000458535;ENST00000307526	T	0.31769	1.48	4.68	-1.37	0.09056	.	0.707951	0.12993	N	0.422322	T	0.16257	0.0391	N	0.08118	0	0.23681	N	0.997128	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17531	-1.0366	10	0.14252	T	0.57	-14.9292	18.726	0.91714	0.0:0.6653:0.3347:0.0	.	26;26	A5D6I7;Q8IZV2	.;CKLF8_HUMAN	T	26	ENSP00000307741:S26T	ENSP00000307741:S26T	S	+	2	0	CMTM8	32255545	1.000000	0.71417	0.937000	0.37676	0.953000	0.61014	0.649000	0.24843	0.045000	0.15804	0.462000	0.41574	AGC			0.706	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253253.1		NM_178868		C	32280541	G	C	32280541	3	2	115	1	0	0	0	0	1	0	0	0	3591	971	34	5	79	5	CMTM8	3	32280541	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		32280541	165741889	12	8615											
SH3BP2	6452	mdanderson.org	37	chr4	2826352	2826352	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccccagggtgatgcgggcGgctgaggagaccacgtccaa	8	4	16	13	3	0	3	0	2	0	1	1	4	1	3	4	4	1	1	4	4	1	0	rs149515000		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr4:2826352G>T	ENST00000356331.5	+	4	513	c.252G>T	c.(250-252)gcG>gcT	p.A84A	SH3BP2_ENST00000452765.2_Silent_p.A84A|SH3BP2_ENST00000435136.2_Silent_p.A84A|SH3BP2_ENST00000503393.2_Silent_p.A141A|SH3BP2_ENST00000442312.2_Silent_p.A112A|SH3BP2_ENST00000511747.1_Silent_p.A84A	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	84	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGATGCGGGCGGCTGAGGAGA	0.617									Cherubism																												p.A141A													.	.			0			c.G423T												88	82	84					4																	2826352		2203	4300	6503	SO:0001819	synonymous_variant	6452	exon4	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	GCGGGCGGCTGAG	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.252G>T	4.37:g.2826352G>T			48	0	0		42	0.07	3	NM_001145856	5	0	0	A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Silent	SNP	ENST00000356331.5	37	CCDS33944.1																																																																																					0.617	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000362406.2		NM_003023		T	2826352	G	T	2826352	2	4	115	1	0	0	0	0	0	0	0	1	14268	1103	39	1		1	SH3BP2	4	2826352	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		2826352	188327924	13	8616											
MFSD10	10227	mdanderson.org	37	chr4	2933865	2933865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgcatcacggaaccccaGggcgatagagggcgcctgtg	9	4	15	13	4	1	1	1	0	0	1	1	3	1	2	4	3	2	1	4	3	2	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr4:2933865G>T	ENST00000329687.4	-	6	1243	c.709C>A	c.(709-711)Ctg>Atg	p.L237M	NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.L237M|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000514800.1_Missense_Mutation_p.L237M|MFSD10_ENST00000508221.1_Missense_Mutation_p.L237M|MFSD10_ENST00000355443.4_Missense_Mutation_p.L237M	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	237					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGGAACCCCAGGGCGATAGAG	0.662																																					p.L237M													.	.			0			c.C709A												20	20	20					4																	2933865		2199	4295	6494	SO:0001583	missense	10227	exon7			ACCCCAGGGCGAT	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.709C>A	4.37:g.2933865G>T	ENSP00000332646:p.Leu237Met		31	0	0		10	0.2	2	NM_001146069	27	0	0	Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084703	0.55861	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	4.92	2.83	0.33086	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.631167	0.15783	N	0.244829	T	0.75568	0.3867	L	0.27053	0.805	0.19300	N	0.999978	P;P;D;P	0.58970	0.913;0.951;0.984;0.854	P;P;P;P	0.59115	0.796;0.852;0.744;0.796	T	0.62506	-0.6840	10	0.33141	T	0.24	-0.0372	3.0645	0.06210	0.3161:0.2269:0.457:0.0	.	237;237;237;237	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	M	237	ENSP00000426907:L237M;ENSP00000347619:L237M;ENSP00000332646:L237M;ENSP00000425757:L237M;ENSP00000423402:L237M	ENSP00000332646:L237M	L	-	1	2	MFSD10	2903663	0.140000	0.22579	0.038000	0.18304	0.003000	0.03518	2.983000	0.49345	1.032000	0.39892	0.637000	0.83480	CTG			0.662	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358072.2		NM_001120		T	2933865	G	T	2933865	3	4	115	1	0	0	0	0	1	0	0	0	9544	991	35	3	686	3	MFSD10	4	2933865	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	107513	2933865	188220411	14	8617											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599321	55599321	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttggtctagccagagAcatcaagaatgattctaatt	13	14	8	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	6	rs121913507		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr4:55599321A>T	ENST00000288135.5	+	17	2544	c.2447A>T	c.(2446-2448)gAc>gTc	p.D816V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816V(758)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCAGAGACATCAAGAAT	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816V			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,+1,932	KIT	1	932	770	Substitution - Missense(769)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(745)|testis(16)|ovary(5)|skin(2)|soft_tissue(1)|genital_tract(1)	c.A2447T	GRCh37	CM952169	KIT	M	rs121913507							145	146	145					4																	55599321		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	CCAGAGACATCAA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2447A>T	4.37:g.55599321A>T	ENSP00000288135:p.Asp816Val		96	0	0		61	0.59	36	NM_000222	50	1	50	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831107	0.91036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83591	-1.74;-1.74	5.62	5.62	0.85841	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	0.000011	D	0.85093	0.5618	N	0.21097	0.63	0.80722	A	1	D;D	0.71674	0.998;0.991	D;D	0.68943	0.961;0.933	D	0.88419	0.3027	9	0.87932	D	0	.	15.8126	0.78576	1.0:0.0:0.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	V	816;812	ENSP00000288135:D816V;ENSP00000390987:D812V	ENSP00000288135:D816V	D	+	2	0	KIT	55294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.148000	0.66965	0.477000	0.44152	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55599321	A	T	55599321	3	4	115	1	0	0	0	0	1	0	0	0	8344	275	10	5	2513	5	KIT	4	55599321	Missense_Mutation	SNP	A	TCGA-XE-AANR-01A-11D-A435-10	52665456	55599321	135554955	15	8618											
DMP1	1758	mdanderson.org	37	chr4	88583550	88583550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagagcagccatggagacgGctccgagttggacgatgagg	10	5	18	8	3	0	3	0	1	0	2	1	8	1	4	2	5	2	3	2	5	0	1	rs200520896		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr4:88583550G>A	ENST00000339673.6	+	6	719	c.620G>A	c.(619-621)gGc>gAc	p.G207D	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.G191D|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	207					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)		CATGGAGACGGCTCCGAGTTG	0.547													G|||	1	0.000199681	0	0	5008	,	,		19277	0		0.001	False		,,,				2504	0				p.G207D													.	.			0			c.G620A												87	72	77					4																	88583550		2203	4300	6503	SO:0001583	missense	1758	exon6			GAGACGGCTCCGA	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.620G>A	4.37:g.88583550G>A	ENSP00000340935:p.Gly207Asp		60	0	0		33	0.09	3	NM_004407	0		0	A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	CCDS3623.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.720	1.159440	0.21454	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.62941	-0.01;-0.01	5.26	3.15	0.36227	.	0.381181	0.22630	N	0.057598	T	0.73094	0.3543	M	0.67700	2.07	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61277	-0.7095	10	0.33141	T	0.24	-41.3426	9.8431	0.41010	0.0882:0.1442:0.7676:0.0	.	191;207	Q13316-2;Q13316	.;DMP1_HUMAN	D	207;191	ENSP00000340935:G207D;ENSP00000282479:G191D	ENSP00000282479:G191D	G	+	2	0	DMP1	88802574	1.000000	0.71417	0.783000	0.31826	0.022000	0.10575	2.762000	0.47597	1.199000	0.43173	0.650000	0.86243	GGC	0		0.547	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253047.1				A	88583550	G	A	88583550	3	1	115	1	0	0	0	0	1	0	0	0	4588	1203	42	2	638	2	DMP1	4	88583550	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	32984229	88583550	102570726	16	8619											
SPCS3	60559	broad.mit.edu	37	chr4	177248366	177248366	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttttgagaggtgataatccGaagctgctgctgaaagatat	12	12	12	5	1	0	4	0	3	0	2	1	6	1	4	1	1	3	4	1	1	4	4			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr4:177248366G>A	ENST00000503362.1	+	4	461	c.348G>A	c.(346-348)ccG>ccA	p.P116P	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	116					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		GTGATAATCCGAAGCTGCTGC	0.318																																					p.P116P													.	SPCS3	15		0			c.G348A												49	47	47					4																	177248366		1806	4069	5875	SO:0001819	synonymous_variant	60559	exon4			TAATCCGAAGCTG	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.348G>A	4.37:g.177248366G>A			474	0	0		298	0.02	6	NM_021928	18	0	0	P12280|Q9H0S7	Silent	SNP	ENST00000503362.1	37	CCDS54823.1																																																																																					0.318	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362329.1		NM_021928		A	177248366	G	A	177248366	2	1	115	1	0	0	0	0	0	0	0	1	15048	1045	37	1		1	SPCS3	4	177248366	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	88664816	177248366	13905910	17	8620											
GRIA1	2890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	153149891	153149891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagtacattgagcagcGgaaaccctgtgacaccatga	14	7	11	9	1	0	4	0	4	0	0	0	6	0	5	2	1	4	2	2	1	3	2	rs370642711		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr5:153149891G>A	ENST00000285900.5	+	13	2529	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	GRIA1_ENST00000518142.1_Missense_Mutation_p.R649Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R729Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R739Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R660Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R739Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	729					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)	ATTGAGCAGCGGAAACCCTGT	0.507																																					p.R739Q													GRIA1_ENST00000544403,NS,carcinoma,0,3	GRIA1_ENST00000544403	0	3	0			c.G2216A							G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	113	95	101		2186,2186	5.4	1	5		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	729/907,729/907	153149891	1,13005	2203	4300	6503	SO:0001583	missense	2890	exon13			AGCAGCGGAAACC		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.2186G>A	5.37:g.153149891G>A	ENSP00000285900:p.Arg729Gln		198	0.0050505051	1		147	0.24	36	NM_001258021	0		0	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047286	0.93740	0.0	1.16E-4	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.37	5.37	0.77165	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.934;0.997;0.999	T	0.64820	-0.6317	10	0.87932	D	0	.	18.1529	0.89679	0.0:0.0:1.0:0.0	.	739;739;649;729;729	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	Q	729;729;649;683;729;662;660;739;739	ENSP00000285900:R729Q;ENSP00000427920:R649Q;ENSP00000339343:R729Q;ENSP00000427864:R662Q;ENSP00000442108:R660Q;ENSP00000428994:R739Q;ENSP00000415569:R739Q	ENSP00000285900:R729Q	R	+	2	0	GRIA1	153130084	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.637000	0.98443	2.521000	0.84997	0.650000	0.86243	CGG			0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252456.3				A	153149891	G	A	153149891	3	1	115	1	0	0	0	0	1	0	0	0	6782	1116	39	1	2236	1	GRIA1	5	153149891	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		153149891	27765369	18	8621											
PANK3	79646	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	167995711	167995711	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagcacatagcaccgtctgCaatgttgagaagtttttatc	11	13	9	8	1	1	1	0	1	1	1	2	2	1	1	1	0	3	6	1	0	5	6			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr5:167995711C>T	ENST00000239231.6	-	2	637	c.321G>A	c.(319-321)ttG>ttA	p.L107L	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	107					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GCACCGTCTGCAATGTTGAGA	0.408																																					p.L107L													.	PANK3	39		0			c.G321A												114	112	112					5																	167995711		2203	4300	6503	SO:0001819	synonymous_variant	79646	exon2			CGTCTGCAATGTT	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.321G>A	5.37:g.167995711C>T			88	0	0		75	0.07	5	NM_024594	8	0	0	D3DQL1|Q53FJ9|Q7RTX4	Silent	SNP	ENST00000239231.6	37	CCDS4368.1																																																																																					0.408	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252793.2		NM_024594		T	167995711	C	T	167995711	2	4	115	1	0	0	0	0	0	0	0	1	11435	709	25	2		2	PANK3	5	167995711	Silent	SNP	C	TCGA-XE-AANR-01A-11D-A435-10	14845820	167995711	12919549	19	8622											
DNAH8	1769	mdanderson.org	37	chr6	38881682	38881682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaactctctcaggatcttgCagtcaaggagaaggagttgg	12	10	12	7	0	4	1	2	0	2	1	5	4	4	3	0	4	2	2	0	4	4	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr6:38881682C>T	ENST00000359357.3	+	65	9520	c.9266C>T	c.(9265-9267)gCa>gTa	p.A3089V	DNAH8_ENST00000449981.2_Missense_Mutation_p.A3306V|DNAH8_ENST00000441566.1_Missense_Mutation_p.A3053V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3089	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGGATCTTGCAGTCAAGGAG	0.363																																					p.A3306V													.	.			0			c.C9917T												140	137	138					6																	38881682		2203	4300	6503	SO:0001583	missense	1769	exon67			ATCTTGCAGTCAA	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.9266C>T	6.37:g.38881682C>T	ENSP00000352312:p.Ala3089Val		150	0.0066666667	1		116	0.04	5	NM_001206927	0		0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	C	7.355	0.623718	0.14193	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.80214	-0.85;-1.35;-1.35;-1.35	6.08	6.08	0.98989	Dynein heavy chain, coiled coil stalk (1);	0.165438	0.53938	D	0.000045	T	0.57286	0.2043	N	0.17800	0.525	0.50039	D	0.999848	B	0.16166	0.016	B	0.16289	0.015	T	0.53760	-0.8393	10	0.29301	T	0.29	.	15.3887	0.74726	0.1392:0.8608:0.0:0.0	.	3089	Q96JB1	DYH8_HUMAN	V	3294;3294;3089;3053	ENSP00000415331:A3294V;ENSP00000333363:A3294V;ENSP00000352312:A3089V;ENSP00000402294:A3053V	ENSP00000333363:A3294V	A	+	2	0	DNAH8	38989660	0.992000	0.36948	0.815000	0.32552	0.729000	0.41735	2.971000	0.49248	2.894000	0.99253	0.655000	0.94253	GCA			0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000043574.1		NM_001206927		T	38881682	C	T	38881682	3	4	115	1	0	0	0	0	1	0	0	0	4612	710	25	2	9516	2	DNAH8	6	38881682	Missense_Mutation	SNP	C	TCGA-XE-AANR-01A-11D-A435-10		38881682	132233385	20	8623											
GPR22	2845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	107115390	107115390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgtaataattgccctccgGcgagctgtgaaacgacaccg	10	9	10	12	4	1	1	0	1	1	0	2	3	2	1	3	1	3	2	3	1	3	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr7:107115390G>A	ENST00000304402.4	+	3	2228	c.885G>A	c.(883-885)cgG>cgA	p.R295R	COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	295					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TTGCCCTCCGGCGAGCTGTGA	0.428																																					p.R295R													.	.			0			c.G885A												115	113	114					7																	107115390		2203	4300	6503	SO:0001819	synonymous_variant	2845	exon3			CCTCCGGCGAGCT	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"GPCR / Class A : Orphans"	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.885G>A	7.37:g.107115390G>A			215	0	0		303	0.19	59	NM_005295	0		0	O14554	Silent	SNP	ENST00000304402.4	37	CCDS5744.1																																																																																					0.428	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337598.1				A	107115390	G	A	107115390	2	1	115	1	0	0	0	0	0	0	0	1	6696	1190	42	2		2	GPR22	7	107115390	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		107115390	52023273	21	8624											
C7orf60	154743	broad.mit.edu	37	chr7	112462251	112462251	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgcagcaaatccatcGctggtaaggagatggaaaat	13	11	10	7	1	1	1	0	0	1	1	3	3	2	2	1	3	2	4	1	3	4	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr7:112462251G>T	ENST00000297145.4	-	5	931	c.766C>A	c.(766-768)Cga>Aga	p.R256R	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	256							rRNA (adenine) methyltransferase activity (GO:0016433)	p.R256*(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAAATCCATCGCTGGTAAGGA	0.403																																					p.R256R													C7orf60,NS,carcinoma,0,1	C7orf60	55	1	1	Substitution - Nonsense(1)	endometrium(1)	c.C766A												72	67	69					7																	112462251		1849	4112	5961	SO:0001819	synonymous_variant	154743	exon5			TCCATCGCTGGTA		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"hypothetical protein FLJ31818"						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.766C>A	7.37:g.112462251G>T			91	0	0		115	0.03	3	NM_152556	14	0	0	Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	CCDS43634.1																																																																																					0.403	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338923.1		NM_152556		T	112462251	G	T	112462251	2	4	115	1	0	0	0	0	0	0	0	1	2409	1095	38	1		1	C7orf60	7	112462251	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	5346861	112462251	46676412	22	8625											
EIF2C2	27161	broad.mit.edu;mdanderson.org	37	chr8	141561493	141561493	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtggaactgcttgttccGcatgtcccagacgccctgga	6	10	12	13	3	0	1	0	0	0	1	2	3	2	3	3	2	2	3	3	2	1	2			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr8:141561493G>T	ENST00000220592.5	-	11	1424	c.1312C>A	c.(1312-1314)Cgg>Agg	p.R438R	AGO2_ENST00000519980.1_Silent_p.R438R	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	438					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)	p.R438W(2)									TGCTTGTTCCGCATGTCCCAG	0.532																																					p.R438R													EIF2C2,NS,carcinoma,0,1	.		1	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)	c.C1312A												92	87	89					8																	141561493		2203	4300	6503	SO:0001819	synonymous_variant	27161	exon11			TGTTCCGCATGTC	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.1312C>A	8.37:g.141561493G>T			94	0	0		76	0.05	4	NM_012154	4	0	0	Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	CCDS6380.1																																																																																					0.532	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377866.4				T	141561493	G	T	141561493	2	4	115	1	0	0	0	0	0	0	0	1	5011	1086	38	1		1	EIF2C2	8	141561493	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		141561493	4802529	23	8626											
AQP7	364	bcgsc.ca	37	chr9	33385733	33385733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatggcatatcctgtgttCatgccaagggacaccccgat	9	11	10	11	1	1	1	1	1	0	0	2	3	2	2	4	2	1	2	4	2	2	3	rs201117022		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr9:33385733C>T	ENST00000537089.1	-	6	699	c.381G>A	c.(379-381)atG>atA	p.M127I	AQP7_ENST00000377425.4_Missense_Mutation_p.M162I|AQP7_ENST00000541274.1_Missense_Mutation_p.E88K|AQP7_ENST00000539936.1_Missense_Mutation_p.M219I			O14520	AQP7_HUMAN	aquaporin 7	219					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ATCCTGTGTTCATGCCAAGGG	0.597																																					p.M219I													AQP7,head_neck,carcinoma,0,1	AQP7	58	1	0			c.G657A												115	109	111					9																	33385733		2203	4300	6503	SO:0001583	missense	364	exon7			TGTGTTCATGCCA	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.381G>A	9.37:g.33385733C>T	ENSP00000441619:p.Met127Ile		38	0.0263157895	1		42	0.24	10	NM_001170	2	0	0	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.51|10.51	1.369405|1.369405	0.24771|0.24771	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000541274|ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T|D;D;D;D;D;D;D;D;D	0.54479|0.84944	0.57|-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Aquaporin-like (2);	.|0.074541	.|0.85682	.|D	.|0.000000	T|T	0.79551|0.79551	0.4465|0.4465	L|L	0.39085|0.39085	1.19|1.19	0.42957|0.42957	D|D	0.99439|0.99439	D|B;B;B;B	0.62365|0.09022	0.991|0.002;0.0;0.0;0.0	P|B;B;B;B	0.56042|0.10450	0.79|0.005;0.005;0.003;0.003	T|T	0.73949|0.73949	-0.3821|-0.3821	9|10	0.72032|0.30854	D|T	0.01|0.27	-22.7314|-22.7314	15.9417|15.9417	0.79758|0.79758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88|218;219;162;219	B7Z7F6|Q5T5M0;B7Z4U2;Q6P5T0;O14520	.|.;.;.;AQP7_HUMAN	K|I	88|127;218;87;219;162;127;218;219;155	ENSP00000438860:E88K|ENSP00000441619:M127I;ENSP00000368821:M218I;ENSP00000412868:M87I;ENSP00000297988:M219I;ENSP00000396111:M162I;ENSP00000410138:M127I;ENSP00000368820:M218I;ENSP00000439534:M219I;ENSP00000368817:M155I	ENSP00000438860:E88K|ENSP00000297988:M219I	E|M	-|-	1|3	0|0	AQP7|AQP7	33375733|33375733	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.234000|0.234000	0.25298|0.25298	1.171000|1.171000	0.31896|0.31896	2.621000|2.621000	0.88768|0.88768	0.550000|0.550000	0.68814|0.68814	GAA|ATG			0.597	AQP7-202	KNOWN	basic	protein_coding	protein_coding				NM_001170		T	33385733	C	T	33385733	3	4	115	1	0	0	0	0	1	0	0	0	831	826	29	3	379	3	AQP7	9	33385733	Missense_Mutation	SNP	C	TCGA-XE-AANR-01A-11D-A435-10		33385733	107827698	24	8627											
SLC34A3	142680	mdanderson.org	37	chr9	140128577	140128577	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccgccacctgtttgcGggcacggagctcacggacct	6	6	13	16	4	1	0	1	0	0	0	1	2	1	2	5	4	2	3	5	4	0	1	rs34664302	byFrequency	TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr9:140128577G>T	ENST00000538474.1	+	10	1166	c.942G>T	c.(940-942)gcG>gcT	p.A314A	SLC34A3_ENST00000361134.2_Silent_p.A314A	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	314					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACCTGTTTGCGGGCACGGAGC	0.731																																					p.A314A													.	.			0			c.G942T												14	14	14					9																	140128577		2180	4286	6466	SO:0001819	synonymous_variant	142680	exon10			GTTTGCGGGCACG	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.942G>T	9.37:g.140128577G>T			16	0	0		17	0.12	2	NM_080877	0		0	A2BFA1	Silent	SNP	ENST00000538474.1	37	CCDS7038.1																																																																																					0.731	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254712.1		NM_080877		T	140128577	G	T	140128577	2	4	115	1	0	0	0	0	0	0	0	1	14592	1103	39	1		1	SLC34A3	9	140128577	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	106742844	140128577	1084854	25	8628											
ZNF503	84858	mdanderson.org	37	chr10	77159069	77159069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtatccggacttcagcgccGcagccgcagcagccggatca	8	5	13	15	5	2	0	2	0	0	0	3	2	3	2	4	3	4	4	4	3	1	2			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr10:77159069G>T	ENST00000372524.4	-	2	1865	c.1379C>A	c.(1378-1380)gCg>gAg	p.A460E	ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.A460E|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	460	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)					CTTCAGCGCCGCAGCCGCAGC	0.716																																					p.A460E													.	.			0			c.C1379A												8	11	10					10																	77159069		2179	4256	6435	SO:0001583	missense	84858	exon2			AGCGCCGCAGCCG	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.1379C>A	10.37:g.77159069G>T	ENSP00000361602:p.Ala460Glu		24	0	0		26	0.12	3	NM_032772	1	0	0	Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	G	4.331	0.060728	0.08339	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.46451	0.87;0.87	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	L	0.55481	1.735	0.45205	D	0.998219	P	0.48589	0.912	P	0.46208	0.507	T	0.33650	-0.9860	10	0.02654	T	1	-0.0451	12.2083	0.54365	0.0:0.0:1.0:0.0	.	460	Q96F45	ZN503_HUMAN	E	460;460;423	ENSP00000361602:A460E;ENSP00000438988:A460E	ENSP00000361594:A423E	A	-	2	0	ZNF503	76829075	1.000000	0.71417	0.723000	0.30687	0.539000	0.34962	6.452000	0.73485	2.240000	0.73641	0.643000	0.83706	GCG			0.716	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048826.1		NM_032772		T	77159069	G	T	77159069	3	4	115	1	0	0	0	0	1	0	0	0	17974	1087	38	1	565	1	ZNF503	10	77159069	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		77159069	58375678	26	8629											
DLG5	9231	mdanderson.org	37	chr10	79579175	79579175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtagatggggttccgcAggatggagctcacagtggtg	8	9	17	7	1	1	1	1	0	0	1	2	3	2	3	1	5	1	4	1	5	1	2	rs142466775	byFrequency	TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr10:79579175A>G	ENST00000372391.2	-	17	3580	c.3575T>C	c.(3574-3576)cTg>cCg	p.L1192P	DLG5_ENST00000372388.2_Missense_Mutation_p.L852P|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1192					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)			GGGGTTCCGCAGGATGGAGCT	0.627																																					p.L1192P													.	.			0			c.T3575C							A	PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	53	54	53		3575	5.5	1	10	dbSNP_134	53	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DLG5	NM_004747.3	98	0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231	probably-damaging	1192/1920	79579175	3,13003	2203	4300	6503	SO:0001583	missense	9231	exon17			TTCCGCAGGATGG	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.3575T>C	10.37:g.79579175A>G	ENSP00000361467:p.Leu1192Pro		57	0	0		38	0.08	3	NM_004747	36	0	0	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338091	0.81911	2.27E-4	2.33E-4	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.05925	3.47;3.37;3.55	5.54	5.54	0.83059	.	0.000000	0.29480	N	0.012038	T	0.14570	0.0352	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.68943	0.961;0.914;0.953	T	0.10847	-1.0612	10	0.31617	T	0.26	.	15.6783	0.77344	1.0:0.0:0.0:0.0	.	1082;1192;852	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	P	1192;153;852	ENSP00000361467:L1192P;ENSP00000394797:L153P;ENSP00000361464:L852P	ENSP00000361464:L852P	L	-	2	0	DLG5	79249181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.709000	0.91379	2.114000	0.64651	0.528000	0.53228	CTG	0		0.627	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048900.2				G	79579175	A	G	79579175	3	3	115	1	0	0	0	0	1	0	0	0	4563	188	7	4	2248	4	DLG5	10	79579175	Missense_Mutation	SNP	A	TCGA-XE-AANR-01A-11D-A435-10	2420106	79579175	55955572	27	8630											
MUC2	4583	mdanderson.org	37	chr11	1093210	1093210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtccccaaccccaacaGccatcaccaccaccactacg	13	3	3	22	1	1	0	1	0	0	0	2	0	2	0	8	0	4	0	8	0	3	1	rs56396523		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr11:1093210G>C	ENST00000441003.2	+	30	5056	c.5029G>C	c.(5029-5031)Gcc>Ccc	p.A1677P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.A1644P|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	aaccccaacagccatcaccac	0.627																																					p.A1677P													.	.			0			c.G5029C												114	177	154					11																	1093210		1786	3249	5035	SO:0001583	missense	4583	exon30			CCAACAGCCATCA	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.5029G>C	11.37:g.1093210G>C	ENSP00000415183:p.Ala1677Pro		22	0.2272727273	5		16	0.31	5	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	0.173	-1.069534	0.01918	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.10192	2.9;3.27	1.75	-3.49	0.04724	.	0.815224	0.08676	U	0.910149	T	0.06050	0.0157	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21552	-1.0242	9	0.30078	T	0.28	.	1.5588	0.02590	0.1363:0.3641:0.2725:0.2271	rs56396523	1677	E7EUV1	.	P	1677;1644	ENSP00000415183:A1677P;ENSP00000351956:A1644P	ENSP00000351956:A1644P	A	+	1	0	MUC2	1083210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.188000	0.03064	-4.444000	0.00048	-3.498000	0.00033	GCC			0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		C	1093210	G	C	1093210	3	2	115	1	0	0	0	0	1	0	0	0	9991	971	34	5	5147	5	MUC2	11	1093210	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		1093210	133913306	28	8631											
MUC2	4583	hgsc.bcm.edu	37	chr11	1093420	1093420	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccccaaccacgacacccAtcaccaccaccaccacggtg	13	2	5	21	2	1	1	1	0	0	1	1	2	1	1	8	1	1	0	8	1	1	0			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr11:1093420A>G	ENST00000441003.2	+	30	5266	c.5239A>G	c.(5239-5241)Atc>Gtc	p.I1747V	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.I1714V|MUC2_ENST00000333592.6_Missense_Mutation_p.I35V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	cacgacacccatcaccaccac	0.647																																					p.I1747V													MUC2_ENST00000441003,NS,carcinoma,-2,2	MUC2_ENST00000441003	-2	2	0			c.A5239G												211	240	230					11																	1093420		2041	3977	6018	SO:0001583	missense	4583	exon30			ACACCCATCACCA	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.5239A>G	11.37:g.1093420A>G	ENSP00000415183:p.Ile1747Val		51	0.0392156863	2		35	0.06	2	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	A	4.945	0.175503	0.09391	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.09538	3.12;3.17;2.97	0.458	0.458	0.16670	.	220.785000	0.00531	N	0.000208	T	0.07458	0.0188	.	.	.	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.29305	-1.0016	9	0.30854	T	0.27	.	5.1455	0.14983	0.9999:0.0:1.0E-4:0.0	.	1747	E7EUV1	.	V	1747;1714;35	ENSP00000415183:I1747V;ENSP00000351956:I1714V;ENSP00000331373:I35V	ENSP00000331373:I35V	I	+	1	0	MUC2	1083420	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.390000	0.07332	0.387000	0.25024	0.164000	0.16699	ATC			0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		G	1093420	A	G	1093420	3	3	115	1	0	0	0	0	1	0	0	0	9991	217	8	4	5357	4	MUC2	11	1093420	Missense_Mutation	SNP	A	TCGA-XE-AANR-01A-11D-A435-10	210	1093420	133913096	29	8632											
FAR1	84188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	13743357	13743357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattcttgggtttggaataCtgagaatgtcaatatgttaa	13	16	9	3	0	2	1	1	1	1	1	2	3	2	2	0	2	1	2	0	2	7	7			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr11:13743357C>T	ENST00000354817.3	+	10	1352	c.1208C>T	c.(1207-1209)aCt>aTt	p.T403I	FAR1_ENST00000532502.1_Missense_Mutation_p.T27I	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	403					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GTTTGGAATACTGAGAATGTC	0.294																																					p.T403I													.	.			0			c.C1208T												79	78	78					11																	13743357		2197	4290	6487	SO:0001583	missense	84188	exon10			GGAATACTGAGAA	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	26222	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 1"		"male sterility domain containing 2"	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.1208C>T	11.37:g.13743357C>T	ENSP00000346874:p.Thr403Ile		185	0	0		105	0.33	35	NM_032228	2	0.5	1	D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011853	0.75046	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.24723	1.84	5.48	5.48	0.80851	.	0.194396	0.53938	D	0.000051	T	0.42921	0.1224	L	0.58354	1.805	0.51233	D	0.999918	P	0.45531	0.86	P	0.57009	0.811	T	0.13522	-1.0506	10	0.56958	D	0.05	-15.4666	14.1937	0.65656	0.1497:0.8503:0.0:0.0	.	403	Q8WVX9	FACR1_HUMAN	I	403;27	ENSP00000346874:T403I	ENSP00000346874:T403I	T	+	2	0	FAR1	13699933	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.735000	0.62051	2.734000	0.93682	0.563000	0.77884	ACT			0.294	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385990.2		NM_032228		T	13743357	C	T	13743357	3	4	115	1	0	0	0	0	1	0	0	0	5687	565	20	3	1242	3	FAR1	11	13743357	Missense_Mutation	SNP	C	TCGA-XE-AANR-01A-11D-A435-10	12649937	13743357	121263159	30	8633											
RNF169	254225	mdanderson.org	37	chr11	74521243	74521243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttagctgagagaagaaaaGttacaagaggaaaaaccctc	18	8	9	6	0	0	4	0	1	0	3	1	6	0	5	1	1	3	2	1	1	8	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr11:74521243G>T	ENST00000299563.4	+	3	604	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	197					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GAGAAGAAAAGTTACAAGAGG	0.318																																					p.K197N													.	.			0			c.G591T												74	72	72					11																	74521243		1801	4068	5869	SO:0001583	missense	254225	exon3			AGAAAAGTTACAA	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.591G>T	11.37:g.74521243G>T	ENSP00000299563:p.Lys197Asn		69	0	0		53	0.06	3	NM_001098638	0		0	Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537731	0.65085	.	.	ENSG00000166439	ENST00000299563	T	0.53857	0.6	5.89	3.04	0.35103	.	0.108250	0.64402	D	0.000007	T	0.67571	0.2907	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.65886	-0.6059	10	0.59425	D	0.04	-28.7221	8.2856	0.31926	0.2457:0.0:0.7543:0.0	.	197	Q8NCN4	RN169_HUMAN	N	197	ENSP00000299563:K197N	ENSP00000299563:K197N	K	+	3	2	RNF169	74198891	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.693000	0.25497	0.409000	0.25649	-0.136000	0.14681	AAG			0.318	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384741.1		XM_495886		T	74521243	G	T	74521243	3	4	115	1	0	0	0	0	1	0	0	0	13483	1020	36	3	601	3	RNF169	11	74521243	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	60777886	74521243	60485273	31	8634											
CEP164	22897	mdanderson.org	37	chr11	117263830	117263830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggctaaggccagagagcaGtatgaagctgaggtagctca	13	7	14	7	0	1	3	1	2	0	1	1	4	1	3	1	3	3	6	1	3	4	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr11:117263830G>T	ENST00000278935.3	+	20	2751	c.2604G>T	c.(2602-2604)caG>caT	p.Q868H	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	868	Glu-rich.				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)		CCAGAGAGCAGTATGAAGCTG	0.562																																					p.Q871H													.	.			0			c.G2613T												195	135	155					11																	117263830		2201	4296	6497	SO:0001583	missense	22897	exon19			AGAGCAGTATGAA	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.2604G>T	11.37:g.117263830G>T	ENSP00000278935:p.Gln868His		54	0	0		34	0.09	3	NM_001271933	15	0	0	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983144	0.53827	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.42131	0.98	5.27	4.35	0.52113	.	0.295773	0.24810	N	0.035411	T	0.46483	0.1395	L	0.32530	0.975	0.31362	N	0.681211	D;D;D;D	0.60160	0.977;0.987;0.965;0.965	P;P;P;P	0.57911	0.62;0.829;0.729;0.729	T	0.54879	-0.8227	10	0.72032	D	0.01	-3.8882	10.9903	0.47545	0.0887:0.0:0.9113:0.0	.	842;642;868;871	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	H	868;842;749	ENSP00000278935:Q868H	ENSP00000278935:Q868H	Q	+	3	2	CEP164	116769040	1.000000	0.71417	0.961000	0.40146	0.757000	0.42996	2.039000	0.41193	1.199000	0.43173	0.655000	0.94253	CAG			0.562	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392893.1		NM_014956		T	117263830	G	T	117263830	3	4	115	1	0	0	0	0	1	0	0	0	3251	1020	36	3	2674	3	CEP164	11	117263830	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	42742587	117263830	17742686	32	8635											
TUBA1A	7846	bcgsc.ca	37	chr12	49580192	49580192	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatcttctttgcctgtgatAagttgctcagggtggaagag	8	13	13	7	0	3	2	1	1	2	1	3	3	3	3	1	2	2	3	1	2	2	4			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr12:49580192A>G	ENST00000295766.5	-	3	755	c.276T>C	c.(274-276)ctT>ctC	p.L92L	TUBA1A_ENST00000550767.1_Silent_p.L57L|TUBA1A_ENST00000301071.7_Silent_p.L92L|TUBA1A_ENST00000546918.1_Missense_Mutation_p.L143S	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	92					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TGCCTGTGATAAGTTGCTCAG	0.562																																					p.L92L	Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)												.	TUBA1A	32		0			c.T276C												116	119	118					12																	49580192		2203	4300	6503	SO:0001819	synonymous_variant	7846	exon3			TGTGATAAGTTGC	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.276T>C	12.37:g.49580192A>G			185	0.0324324324	6		140	0.09	12	NM_001270399	756	0.01	5	A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	7.820	0.717529	0.15372	.	.	ENSG00000167552	ENST00000546918	T	0.61859	0.07	5.22	3.26	0.37387	.	0.000000	0.64402	D	0.000005	T	0.56587	0.1995	.	.	.	0.29205	N	0.87495	.	.	.	.	.	.	T	0.57207	-0.7851	7	0.72032	D	0.01	.	7.1443	0.25575	0.152:0.264:0.584:0.0	.	.	.	.	S	143	ENSP00000446613:L143S	ENSP00000446613:L143S	L	-	2	0	TUBA1A	47866459	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.737000	0.26144	0.697000	0.31718	-0.215000	0.12644	TTA			0.562	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000404547.2		NM_006009		G	49580192	A	G	49580192	2	3	115	1	0	0	0	0	0	0	0	1	16767	349	13	4		4	TUBA1A	12	49580192	Silent	SNP	A	TCGA-XE-AANR-01A-11D-A435-10		49580192	84271703	33	8636											
LRP1	4035	mdanderson.org	37	chr12	57588470	57588470	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgaacatggcgaggacGagacccactgcagtgagtga	12	6	14	9	2	0	4	0	3	0	1	0	7	0	5	1	2	2	1	1	2	1	0			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr12:57588470G>T	ENST00000243077.3	+	50	8645	c.8179G>T	c.(8179-8181)Gag>Tag	p.E2727*	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2727	LDL-receptor class A 15. {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)	TGGCGAGGACGAGACCCACTG	0.592																																					p.E2727X													.	.			0			c.G8179T												67	60	62					12																	57588470		2203	4300	6503	SO:0001587	stop_gained	4035	exon50			GAGGACGAGACCC	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.8179G>T	12.37:g.57588470G>T	ENSP00000243077:p.Glu2727*		40	0	0		34	0.09	3	NM_002332	19	0	0	Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	g	52	19.452967	0.99919	.	.	ENSG00000123384	ENST00000243077	.	.	.	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.2421	0.87016	0.0:0.0:1.0:0.0	.	.	.	.	X	2727	.	ENSP00000243077:E2727X	E	+	1	0	LRP1	55874737	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.754000	0.98908	2.339000	0.79563	0.450000	0.29827	GAG			0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412772.2		NM_002332		T	57588470	G	T	57588470	4	4	115	1	0	0	0	0	0	1	0	0	8967	1059	37	1	8377	1	LRP1	12	57588470	Nonsense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	8008278	57588470	76263425	34	8637											
P2RX7	5027	bcgsc.ca;mdanderson.org	37	chr12	121605293	121605293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgttgatccttcagggCggaataatgggcattgagat	9	12	12	8	1	1	2	1	2	0	1	2	4	2	3	2	3	0	2	2	3	2	5	rs147505804		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr12:121605293C>T	ENST00000546057.1	+	8	890	c.747C>T	c.(745-747)ggC>ggT	p.G249G	P2RX7_ENST00000328963.5_Silent_p.G79G|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.G159G|P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000377162.2_Intron	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	249					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTTCAGGGCGGAATAATGG	0.512																																					p.G249G													.	P2RX7	53		0			c.C747T												197	150	166					12																	121605293		2203	4300	6503	SO:0001819	synonymous_variant	5027	exon8			TCAGGGCGGAATA	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.747C>T	12.37:g.121605293C>T			90	0	0		82	0.06	5	NM_002562	0		0	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	CCDS9213.1																																																																																					0.512	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402532.1		NM_002562		T	121605293	C	T	121605293	2	4	115	1	0	0	0	0	0	0	0	1	11362	755	27	1		1	P2RX7	12	121605293	Silent	SNP	C	TCGA-XE-AANR-01A-11D-A435-10	64016823	121605293	12246602	35	8638											
LATS2	26524	mdanderson.org	37	chr13	21562308	21562308	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctctgctccatgcctgcGcacaggctgtccaggtcgta	6	9	12	14	2	1	0	0	0	1	0	4	0	3	0	3	3	3	5	3	3	1	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr13:21562308G>T	ENST00000382592.4	-	4	2016	c.1611C>A	c.(1609-1611)tgC>tgA	p.C537*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.C537*|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)		CCATGCCTGCGCACAGGCTGT	0.667																																					p.C537X													.	.			0			c.C1611A												54	56	55					13																	21562308		2203	4299	6502	SO:0001587	stop_gained	26524	exon4			GCCTGCGCACAGG	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.1611C>A	13.37:g.21562308G>T	ENSP00000372035:p.Cys537*		55	0	0		41	0.07	3	NM_014572	4	0	0		Nonsense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790209	0.90367	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	5.12	-8.65	0.00870	.	0.158559	0.45361	D	0.000365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	21.7824	0.99961	0.2076:0.0:0.7924:0.0	.	.	.	.	X	537	.	ENSP00000372035:C537X	C	-	3	2	LATS2	20460308	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-1.645000	0.02000	-1.949000	0.01031	-0.492000	0.04666	TGC			0.667	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044102.1				T	21562308	G	T	21562308	4	4	115	1	0	0	0	0	0	1	0	0	8662	1079	38	1	1675	1	LATS2	13	21562308	Nonsense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		21562308	93607570	36	8639											
ABCC4	10257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	95858899	95858899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcactgccacgaacacgcGgctggctgtgatcacactgc	8	7	11	15	4	2	1	2	1	0	0	2	2	2	1	1	2	3	2	1	2	1	0	rs532299842	byFrequency	TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr13:95858899G>T	ENST00000376887.4	-	8	1162	c.1048C>A	c.(1048-1050)Cgc>Agc	p.R350S	ABCC4_ENST00000431522.1_Missense_Mutation_p.R350S|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R350S|ABCC4_ENST00000536256.1_Missense_Mutation_p.R275S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	350	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACGAACACGCGGCTGGCTGTG	0.542																																					p.R350S													.	.			0			c.C1048A												119	103	109					13																	95858899		2203	4300	6503	SO:0001583	missense	10257	exon8			ACACGCGGCTGGC	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1048C>A	13.37:g.95858899G>T	ENSP00000366084:p.Arg350Ser		106	0	0		94	0.32	30	NM_005845	11	0.45	5	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821078	0.50633	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.34	5.34	0.76211	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.491888	0.22640	N	0.057462	D	0.89213	0.6651	L	0.59436	1.845	0.43896	D	0.99652	B;B;B;B;B	0.18610	0.01;0.029;0.003;0.029;0.011	B;B;B;B;B	0.30782	0.048;0.12;0.017;0.075;0.047	D	0.86071	0.1538	10	0.54805	T	0.06	.	18.6246	0.91333	0.0:0.0:1.0:0.0	.	275;350;350;350;350	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	S	350;350;275;350	ENSP00000388657:R350S;ENSP00000366084:R350S;ENSP00000442024:R275S;ENSP00000398562:R350S	ENSP00000366084:R350S	R	-	1	0	ABCC4	94656900	1.000000	0.71417	0.950000	0.38849	0.057000	0.15508	3.759000	0.55227	2.471000	0.83476	0.655000	0.94253	CGC			0.542	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045478.2		NM_005845		T	95858899	G	T	95858899	3	4	115	1	0	0	0	0	1	0	0	0	55	1116	39	1	3074	1	ABCC4	13	95858899	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	74296591	95858899	19310979	37	8640											
UPF3A	65110	mdanderson.org	37	chr13	115051797	115051797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctagaatatcctgcagtgGtagagtttgctccattccag	9	12	10	10	0	0	2	0	0	0	2	3	2	3	2	4	1	2	4	4	1	4	5	rs529401037		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr13:115051797G>T	ENST00000375299.3	+	4	498	c.442G>T	c.(442-444)Gta>Tta	p.V148L	UPF3A_ENST00000351487.5_Intron	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	148					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TCCTGCAGTGGTAGAGTTTGC	0.403																																					p.V148L													.	.			0			c.G442T												108	110	109					13																	115051797		2203	4300	6503	SO:0001583	missense	65110	exon4			GCAGTGGTAGAGT	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.442G>T	13.37:g.115051797G>T	ENSP00000364448:p.Val148Leu		119	0	0		75	0.05	4	NM_023011	17	0	0	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137246	0.94517	.	.	ENSG00000169062	ENST00000375299	T	0.71103	-0.54	5.55	5.55	0.83447	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.83511	0.0080	9	.	.	.	-23.6783	19.5118	0.95144	0.0:0.0:1.0:0.0	.	148	Q9H1J1	REN3A_HUMAN	L	148	ENSP00000364448:V148L	.	V	+	1	0	UPF3A	114069899	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.953000	0.93041	2.616000	0.88540	0.561000	0.74099	GTA			0.403	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045968.2				T	115051797	G	T	115051797	3	4	115	1	0	0	0	0	1	0	0	0	17029	1261	44	3	456	3	UPF3A	13	115051797	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	19192898	115051797	118081	38	8641											
NPAS3	64067	mdanderson.org	37	chr14	34269689	34269689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgccgacggcgcggccGcccgcaagactcagttcggc	5	3	15	18	9	1	1	1	0	0	1	2	2	1	1	4	4	0	2	4	4	1	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr14:34269689G>A	ENST00000356141.4	+	12	2176	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	NPAS3_ENST00000548645.1_Missense_Mutation_p.A696T|NPAS3_ENST00000357798.5_Missense_Mutation_p.A713T|NPAS3_ENST00000551492.1_Missense_Mutation_p.A731T|NPAS3_ENST00000346562.2_Missense_Mutation_p.A694T			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	726	Gly-rich.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		cggcgcggccgcccgcAAGAC	0.801																																					p.A726T													.	.			0			c.G2176A												1	2	2					14																	34269689		562	1388	1950	SO:0001583	missense	64067	exon12			GCGGCCGCCCGCA	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2176G>A	14.37:g.34269689G>A	ENSP00000348460:p.Ala726Thr		32	0	0		39	0.08	3	NM_001164749	0		0	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	1.817	-0.473212	0.04445	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.06528	3.55;3.42;3.43;3.43;3.42;3.29	4.42	-3.03	0.05429	.	0.577020	0.17160	N	0.184725	T	0.03095	0.0091	N	0.19112	0.55	0.38544	D	0.949289	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.46359	-0.9197	10	0.20046	T	0.44	.	6.0724	0.19897	0.5509:0.0:0.3213:0.1278	.	696;726;694;713	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	T	700;731;694;696;726;713	ENSP00000448373:A700T;ENSP00000450392:A731T;ENSP00000319610:A694T;ENSP00000448916:A696T;ENSP00000348460:A726T;ENSP00000350446:A713T	ENSP00000319610:A694T	A	+	1	0	NPAS3	33339440	0.830000	0.29337	0.024000	0.17045	0.837000	0.47467	1.160000	0.31761	-0.478000	0.06823	-0.263000	0.10527	GCC			0.801	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000276645.1				A	34269689	G	A	34269689	3	1	115	1	0	0	0	0	1	0	0	0	10581	1087	38	1	2277	1	NPAS3	14	34269689	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		34269689	73079851	39	8642											
GPR135	64582	mdanderson.org	37	chr14	59930940	59930940	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgacgaagacgatcatGatgaggacggtggtggccgt	11	7	16	7	4	1	5	1	3	0	2	1	8	1	6	1	4	0	0	1	4	1	0			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr14:59930940G>T	ENST00000395116.1	-	1	1120	c.1005C>A	c.(1003-1005)atC>atA	p.I335I		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	335						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)		AGACGATCATGATGAGGACGG	0.692																																					p.I335I													.	.			0			c.C1005A												22	23	23					14																	59930940		2197	4291	6488	SO:0001819	synonymous_variant	64582	exon1			GATCATGATGAGG	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.1005C>A	14.37:g.59930940G>T			28	0	0		32	0.09	3	NM_022571	0		0	Q7Z604|Q86SM3|Q8NH39	Silent	SNP	ENST00000395116.1	37	CCDS9738.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282638	0.23392	.	.	ENSG00000181619	ENST00000539022	.	.	.	4.31	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-7.3025	12.1489	0.54038	0.0836:0.0:0.9164:0.0	.	.	.	.	X	322	.	ENSP00000444314:S322X	S	-	2	0	GPR135	59000693	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	3.649000	0.54417	1.034000	0.39945	0.558000	0.71614	TCA			0.692	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276941.1		NM_022571		T	59930940	G	T	59930940	2	4	115	1	0	0	0	0	0	0	0	1	6658	1280	45	3		3	GPR135	14	59930940	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	25661251	59930940	47418600	40	8643											
UBR1	197131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	43335557	43335557	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacctcatcacagcttTgtgacattctttataagcca	11	13	5	12	0	3	1	2	1	1	0	3	1	3	1	2	0	3	2	2	0	2	5			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr15:43335557T>C	ENST00000290650.4	-	15	1783	c.1705A>G	c.(1705-1707)Aaa>Gaa	p.K569E	UBR1_ENST00000382177.2_Missense_Mutation_p.K569E	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	569					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)		ATCACAGCTTTGTGACATTCT	0.348																																					p.K569E													.	.			0			c.A1705G												141	126	131					15																	43335557		2203	4299	6502	SO:0001583	missense	197131	exon15			CAGCTTTGTGACA		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.1705A>G	15.37:g.43335557T>C	ENSP00000290650:p.Lys569Glu		155	0	0		170	0.19	33	NM_174916	6	0.17	1	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	9.444	1.088776	0.20390	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.52295	0.67;0.67	4.21	3.05	0.35203	.	0.444283	0.25267	N	0.031905	T	0.20373	0.0490	N	0.11064	0.09	0.39435	D	0.967148	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10405	-1.0631	10	0.08179	T	0.78	-22.3478	4.4294	0.11520	0.0:0.1634:0.1879:0.6487	.	569;569	B4DYL2;Q8IWV7	.;UBR1_HUMAN	E	569	ENSP00000290650:K569E;ENSP00000371612:K569E	ENSP00000290650:K569E	K	-	1	0	UBR1	41122849	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.358000	0.44134	1.776000	0.52262	0.254000	0.18369	AAA			0.348	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253202.1		NM_174916		C	43335557	T	C	43335557	3	2	115	1	0	0	0	0	1	0	0	0	16925	1821	63	4	3676	4	UBR1	15	43335557	Missense_Mutation	SNP	T	TCGA-XE-AANR-01A-11D-A435-10		43335557	59195835	41	8644											
MYH11	4629	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr16	15869978	15869978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcatgtagtaaaagatGtggaatgtcctctcgtctct	11	13	9	8	1	3	1	1	0	2	1	6	2	4	2	1	1	0	3	1	1	5	2			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr16:15869978G>T	ENST00000300036.5	-	8	955	c.846C>A	c.(844-846)caC>caA	p.H282Q	MYH11_ENST00000576790.2_Missense_Mutation_p.H282Q|MYH11_ENST00000396324.3_Missense_Mutation_p.H289Q|MYH11_ENST00000452625.2_Missense_Mutation_p.H289Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	282	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGTAAAAGATGTGGAATGTCC	0.473			T	CBFB	AML																																p.H289Q				Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	.	.			0			c.C867A												336	299	312					16																	15869978		2197	4300	6497	SO:0001583	missense	4629	exon9			AAAGATGTGGAAT	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.846C>A	16.37:g.15869978G>T	ENSP00000300036:p.His282Gln		146	0	0		96	0.05	5	NM_001040114	14	0	0	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256780	0.80246	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.91	4.95	0.65309	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98105	0.9375	H	0.99949	5.025	0.80722	D	1	P;D;D;D;D	0.61697	0.944;0.99;0.99;0.99;0.99	D;D;D;D;D	0.83275	0.996;0.994;0.994;0.994;0.994	D	0.97727	1.0200	10	0.87932	D	0	.	11.7139	0.51641	0.1349:0.0:0.8651:0.0	.	289;282;289;282;289	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	282;282;289;289;289	ENSP00000300036:H282Q;ENSP00000345136:H282Q;ENSP00000379616:H289Q;ENSP00000407821:H289Q	ENSP00000300036:H282Q	H	-	3	2	MYH11	15777479	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.966000	0.40481	2.804000	0.96469	0.462000	0.41574	CAC			0.473	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252192.2		NM_001040113		T	15869978	G	T	15869978	3	4	115	1	0	0	0	0	1	0	0	0	10047	1368	48	3	5243	3	MYH11	16	15869978	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		15869978	74484775	42	8645											
TCF25	22980	mdanderson.org	37	chr16	89965261	89965261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactacgagtacctgatccGcctcttccaggagtgggagg	9	8	13	11	2	1	1	0	1	1	0	3	5	3	3	4	3	3	1	4	3	3	3	rs139981645		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr16:89965261G>A	ENST00000263346.8	+	11	1258	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	TCF25_ENST00000263347.7_Missense_Mutation_p.R166H	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	401					heart development (GO:0007507)|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)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TACCTGATCCGCCTCTTCCAG	0.632																																					p.R401H													.	.			0			c.G1202A							G	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	47	46	46		1202	2.6	1	16	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TCF25	NM_014972.2	29	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	401/677	89965261	2,12994	2198	4300	6498	SO:0001583	missense	22980	exon11			TGATCCGCCTCTT	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1202G>A	16.37:g.89965261G>A	ENSP00000263346:p.Arg401His		41	0	0		39	0.08	3	NM_014972	105	0	0	Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217809	0.58560	2.27E-4	1.16E-4	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.63	2.64	0.31445	.	0.209281	0.51477	N	0.000082	T	0.50599	0.1625	M	0.64676	1.99	0.50039	D	0.999849	P;B	0.35612	0.512;0.275	B;B	0.31614	0.133;0.126	T	0.51387	-0.8712	9	0.87932	D	0	.	10.3222	0.43773	0.2053:0.0:0.7947:0.0	.	166;401	Q9H384;Q9BQ70	.;TCF25_HUMAN	H	401;166	.	ENSP00000263346:R401H	R	+	2	0	TCF25	88492762	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	1.419000	0.34793	0.337000	0.23665	-0.258000	0.10820	CGC	0		0.632	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272875.2		NM_014972		A	89965261	G	A	89965261	3	1	115	1	0	0	0	0	1	0	0	0	15716	1087	38	1	1244	1	TCF25	16	89965261	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	74095283	89965261	389492	43	8646											
SPAG5	10615	mdanderson.org	37	chr17	26905514	26905514	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcacgccgaagtgaGcgggtaaggtgggtcacctc	7	7	15	12	4	2	1	1	1	1	0	4	2	2	1	3	3	1	2	3	3	2	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr17:26905514G>T	ENST00000321765.5	-	21	3563	c.3231C>A	c.(3229-3231)cgC>cgA	p.R1077R	ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000395321.2_5'Flank|ALDOC_ENST00000226253.4_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1077					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GCCGAAGTGAGCGGGTAAGGT	0.552																																					p.R1077R													.	.			0			c.C3231A												72	74	73					17																	26905514		2203	4300	6503	SO:0001819	synonymous_variant	10615	exon21			AAGTGAGCGGGTA	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3231C>A	17.37:g.26905514G>T			47	0	0		42	0.07	3	NM_006461	142	0.01	1	O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	CCDS32594.1																																																																																					0.552	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390564.2		NM_006461		T	26905514	G	T	26905514	2	4	115	1	0	0	0	0	0	0	0	1	15004	958	34	2		2	SPAG5	17	26905514	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		26905514	54289696	44	8647											
ZPBP2	124626	mdanderson.org	37	chr17	38028693	38028693	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catataaatgccattctgttGaaattccagaacatggcctc	13	12	6	10	0	1	2	0	1	1	1	3	2	2	2	3	1	2	1	3	1	5	5			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr17:38028693G>T	ENST00000348931.4	+	5	768	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	ZPBP2_ENST00000377940.3_Nonsense_Mutation_p.E171*|ZPBP2_ENST00000584588.1_Intron	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	193					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)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCATTCTGTTGAAATTCCAGA	0.308																																					p.E193X													ZPBP2,NS,carcinoma,0,1	ZPBP2	0	1	0			c.G577T												71	65	67					17																	38028693		2202	4299	6501	SO:0001587	stop_gained	124626	exon5			TCTGTTGAAATTC	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.577G>T	17.37:g.38028693G>T	ENSP00000335384:p.Glu193*		102	0	0		91	0.05	5	NM_199321	0		0	A8K8L8|Q6X783|Q86XL5	Nonsense_Mutation	SNP	ENST00000348931.4	37	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391318	0.62066	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	.	.	.	5.48	1.81	0.25067	.	0.549745	0.18832	N	0.129956	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8867	7.9074	0.29769	0.6404:0.0:0.3596:0.0	.	.	.	.	X	193;171	.	ENSP00000335384:E193X	E	+	1	0	ZPBP2	35282219	1.000000	0.71417	0.987000	0.45799	0.637000	0.38172	1.612000	0.36889	0.367000	0.24454	0.460000	0.39030	GAA			0.308	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256609.2		NM_198844		T	38028693	G	T	38028693	4	4	115	1	0	0	0	0	0	1	0	0	18243	1291	45	3	595	3	ZPBP2	17	38028693	Nonsense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	11123179	38028693	43166517	45	8648											
CASC3	22794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	38318013	38318013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttttttcagggtgaagAaggtgaatacagtgaagagg	15	10	13	3	0	1	5	1	3	0	2	1	5	1	5	0	3	2	0	0	3	6	4			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr17:38318013A>G	ENST00000264645.7	+	4	531	c.305A>G	c.(304-306)gAa>gGa	p.E102G		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	102					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						CAGGGTGAAGAAGGTGAATAC	0.423																																					p.E102G													CASC3,NS,carcinoma,+1,1	CASC3	1	1	0			c.A305G												78	80	80					17																	38318013		2203	4299	6502	SO:0001583	missense	22794	exon4			GTGAAGAAGGTGA	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.305A>G	17.37:g.38318013A>G	ENSP00000264645:p.Glu102Gly		164	0	0		141	0.19	27	NM_007359	56	0.34	19	A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686409	0.47991	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.89	4.8	0.61643	.	0.207411	0.47852	D	0.000202	T	0.42787	0.1218	L	0.29908	0.895	0.53688	D	0.999979	B;B	0.31383	0.321;0.058	B;B	0.26770	0.073;0.033	T	0.25572	-1.0128	9	0.33141	T	0.24	-4.3206	11.461	0.50211	0.8647:0.0:0.0:0.1353	.	102;102	B4DKR6;O15234	.;CASC3_HUMAN	G	102	.	ENSP00000264645:E102G	E	+	2	0	CASC3	35571539	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	4.269000	0.58890	1.018000	0.39521	0.491000	0.48974	GAA			0.423	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257127.3		NM_007359		G	38318013	A	G	38318013	3	3	115	1	0	0	0	0	1	0	0	0	2663	246	9	4	319	4	CASC3	17	38318013	Missense_Mutation	SNP	A	TCGA-XE-AANR-01A-11D-A435-10	289320	38318013	42877197	46	8649											
KCNH6	81033	hgsc.bcm.edu	37	chr17	61622539	61622539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattctggaagcccctgccTccaatgacctggccttggtt	7	11	9	14	0	1	1	0	1	1	0	2	2	2	2	6	3	2	1	6	3	2	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr17:61622539T>C	ENST00000583023.1	+	13	2616	c.2605T>C	c.(2605-2607)Tcc>Ccc	p.S869P	KCNH6_ENST00000314672.5_Missense_Mutation_p.S833P|KCNH6_ENST00000456941.2_Missense_Mutation_p.S780P|KCNH6_ENST00000581784.1_Missense_Mutation_p.S780P	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	869					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGCCCCTGCCTCCAATGACCT	0.642																																					p.S869P													.	.			0			c.T2605C												71	70	70					17																	61622539		2203	4300	6503	SO:0001583	missense	81033	exon13			CCTGCCTCCAATG	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2605T>C	17.37:g.61622539T>C	ENSP00000463533:p.Ser869Pro		67	0	0		99	0.05	5	NM_030779	9	0	0	Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	T	6.062	0.379825	0.11466	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99338	-5.76	5.55	0.917	0.19380	.	0.673240	0.13977	N	0.349792	D	0.97864	0.9298	L	0.34521	1.04	0.09310	N	1	B;D;B;B	0.67145	0.016;0.996;0.005;0.167	B;P;B;B	0.56216	0.01;0.794;0.004;0.063	D	0.94855	0.8017	10	0.32370	T	0.25	.	5.6206	0.17455	0.0:0.2142:0.1444:0.6414	.	710;833;780;869	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	P	869;780	ENSP00000396900:S780P	ENSP00000318212:S869P	S	+	1	0	KCNH6	58976271	0.006000	0.16342	0.004000	0.12327	0.008000	0.06430	-0.013000	0.12678	-0.031000	0.13781	-0.331000	0.08364	TCC			0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443853.1		NM_030779		C	61622539	T	C	61622539	3	2	115	1	0	0	0	0	1	0	0	0	8051	1551	54	4	2655	4	KCNH6	17	61622539	Missense_Mutation	SNP	T	TCGA-XE-AANR-01A-11D-A435-10	23304526	61622539	19572671	47	8650											
C19orf6	91304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1014364	1014364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgccgcacttccacacGcaggatgccctcacgcggcc	6	7	11	17	4	1	0	1	0	0	0	2	1	2	1	4	2	2	3	4	2	0	2			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr19:1014364G>A	ENST00000356663.3	-	2	455	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	TMEM259_ENST00000333175.5_Missense_Mutation_p.R112C	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	112						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											ACTTCCACACGCAGGATGCCC	0.657																																					p.R112C													.	.			0			c.C334T												39	38	38					19																	1014364		2200	4299	6499	SO:0001583	missense	91304	exon2			CCACACGCAGGAT	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.334C>T	19.37:g.1014364G>A	ENSP00000349087:p.Arg112Cys		308	0	0		216	0.24	51	NM_033420	146	0.21	30	O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042694	0.55003	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.19	4.19	0.49359	.	0.067371	0.64402	D	0.000013	T	0.79088	0.4387	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82402	-0.0475	9	0.87932	D	0	-14.0215	12.5147	0.56026	0.0:0.0:0.8329:0.1671	.	112;112	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	C	112	.	ENSP00000331423:R112C	R	-	1	0	C19orf6	965364	1.000000	0.71417	0.714000	0.30535	0.170000	0.22686	3.183000	0.50918	2.182000	0.69389	0.561000	0.74099	CGT			0.657	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000458236.1		NM_033420		A	1014364	G	A	1014364	3	1	115	1	0	0	0	0	1	0	0	0	1943	1087	38	1	1568	1	C19orf6	19	1014364	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		1014364	58114619	48	8651											
PRKCSH	5589	mdanderson.org	37	chr19	11546995	11546995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggccgtggaggtcaagagGccccggggcgtctccctcac	5	6	16	14	3	3	1	2	0	1	1	4	2	3	2	4	6	0	0	4	6	1	0			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr19:11546995G>T	ENST00000589838.1	+	1	57	c.57G>T	c.(55-57)agG>agT	p.R19S	CCDC151_ENST00000586836.1_5'Flank|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R19S|CCDC151_ENST00000545100.1_5'Flank|PRKCSH_ENST00000252455.2_Missense_Mutation_p.R19S|CCDC151_ENST00000356392.4_5'Flank|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R19S|PRKCSH_ENST00000412601.1_Missense_Mutation_p.R19S|CCDC151_ENST00000591179.1_5'Flank|PRKCSH_ENST00000587327.1_Missense_Mutation_p.R19S			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	19					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						AGGTCAAGAGGCCCCGGGGCG	0.632											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R19S													.	.			0			c.G57T												36	31	32					19																	11546995		2200	4295	6495	SO:0001583	missense	5589	exon2			CAAGAGGCCCCGG		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.57G>T	19.37:g.11546995G>T	ENSP00000465461:p.Arg19Ser		33	0	0	673	43	0.07	3	NM_001001329	382	0	1	A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555693	0.65425	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.71341	-0.56;-0.56	5.46	-3.46	0.04767	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.71296	2.17	0.47862	D	0.999531	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.995;0.978;0.995	T	0.74278	-0.3717	10	0.59425	D	0.04	-33.4024	7.7898	0.29114	0.5085:0.1081:0.3834:0.0	.	19;19;19	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	S	19	ENSP00000252455:R19S;ENSP00000395616:R19S	ENSP00000252455:R19S	R	+	3	2	PRKCSH	11407995	0.494000	0.26043	0.746000	0.31095	0.538000	0.34931	-0.497000	0.06428	-0.519000	0.06444	0.561000	0.74099	AGG			0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000458817.1				T	11546995	G	T	11546995	3	4	115	1	0	0	0	0	1	0	0	0	12536	1194	42	2	59	2	PRKCSH	19	11546995	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	10532631	11546995	47581988	49	8652											
CAPNS1	826	bcgsc.ca	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000587718.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000588780.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Silent_p.G47G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	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.141C>T	19.37:g.36632054C>T			150	0.0266666667	4		118	0.07	8	NM_001749	0		0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				T	36632054	C	T	36632054	2	4	115	1	0	0	0	0	0	0	0	1	2635	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-XE-AANR-01A-11D-A435-10	25085059	36632054	22496929	50	8653											
DMRTC2	63946	mdanderson.org	37	chr19	42352958	42352958	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttgggtccctggacactgGctgcctccaggcttctccat	4	11	10	16	0	1	0	0	0	1	0	4	1	3	1	5	4	1	2	5	4	0	2			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr19:42352958G>A	ENST00000269945.3	+	5	594	c.543G>A	c.(541-543)tgG>tgA	p.W181*	DMRTC2_ENST00000596827.1_Nonsense_Mutation_p.W181*	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	181	Pro-rich.				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						CTGGACACTGGCTGCCTCCAG	0.622																																					p.W181X													.	.			0			c.G543A												73	77	76					19																	42352958		2203	4300	6503	SO:0001587	stop_gained	63946	exon5			ACACTGGCTGCCT	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.543G>A	19.37:g.42352958G>A	ENSP00000269945:p.Trp181*		63	0	0		47	0.06	3	NM_001040283	0		0	Q8N6Q2|Q96M39|Q96SD4	Nonsense_Mutation	SNP	ENST00000269945.3	37	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858130	0.91433	.	.	ENSG00000142025	ENST00000269945	.	.	.	5.29	4.22	0.49857	.	0.135440	0.34853	N	0.003628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-6.6995	11.9314	0.52849	0.0:0.1757:0.8243:0.0	.	.	.	.	X	181	.	ENSP00000269945:W181X	W	+	3	0	DMRTC2	47044798	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.311000	0.59147	1.321000	0.45227	0.561000	0.74099	TGG			0.622	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463045.1		NM_001040283		A	42352958	G	A	42352958	4	1	115	1	0	0	0	0	0	1	0	0	4596	1212	42	2	557	2	DMRTC2	19	42352958	Nonsense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	5720904	42352958	16776025	51	8654											
MEGF8	1954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42874860	42874860	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccttggccagattgaaaActgggtgacagagggtccta	10	10	12	9	0	0	4	0	2	0	2	2	4	2	4	3	3	1	0	3	3	3	4			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr19:42874860A>T	ENST00000251268.6	+	40	7013	c.7013A>T	c.(7012-7014)aAc>aTc	p.N2338I	MEGF8_ENST00000334370.4_Missense_Mutation_p.N2271I|MEGF8_ENST00000378073.4_5'UTR	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2338					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)				CAGATTGAAAACTGGGTGACA	0.572																																					p.N2338I													.	.			0			c.A7013T												63	55	58					19																	42874860		2202	4298	6500	SO:0001583	missense	1954	exon40			TTGAAAACTGGGT	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.7013A>T	19.37:g.42874860A>T	ENSP00000251268:p.Asn2338Ile		97	0	0		84	0.25	21	NM_001271938	9	0.33	3	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	A	13.22	2.171349	0.38315	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21031	2.03;2.03	4.21	3.16	0.36331	.	0.553646	0.18723	N	0.132942	T	0.12220	0.0297	N	0.19112	0.55	0.80722	D	1	B;B	0.21688	0.059;0.005	B;B	0.21546	0.035;0.008	T	0.09509	-1.0671	10	0.39692	T	0.17	-10.9879	5.9354	0.19163	0.663:0.1777:0.0:0.1593	.	2338;2271	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	I	2271;2338	ENSP00000334219:N2271I;ENSP00000251268:N2338I	ENSP00000251268:N2338I	N	+	2	0	MEGF8	47566700	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.454000	0.21827	0.931000	0.37242	0.459000	0.35465	AAC			0.572	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000463854.1		NM_001410		T	42874860	A	T	42874860	3	4	115	1	0	0	0	0	1	0	0	0	9479	43	2	5	6966	5	MEGF8	19	42874860	Missense_Mutation	SNP	A	TCGA-XE-AANR-01A-11D-A435-10	521902	42874860	16254123	52	8655											
DHX34	9704	mdanderson.org	37	chr19	47876120	47876120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcggcagcacggcggccGctggagagcgaccagggtga	7	3	19	12	6	0	2	0	1	0	1	0	4	0	2	2	5	3	3	2	5	0	0	rs529993771		TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr19:47876120G>A	ENST00000328771.4	+	8	2251	c.1902G>A	c.(1900-1902)ccG>ccA	p.P634P		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	634					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CACGGCGGCCGCTGGAGAGCG	0.677																																					p.P634P													.	.			0			c.G1902A												33	33	33					19																	47876120		2203	4300	6503	SO:0001819	synonymous_variant	9704	exon8			GCGGCCGCTGGAG	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1902G>A	19.37:g.47876120G>A			50	0	0		42	0.07	3	NM_014681	23	0	0	B4DMY8	Silent	SNP	ENST00000328771.4	37	CCDS12700.1																																																																																					0.677	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314313.3		NM_014681		A	47876120	G	A	47876120	2	1	115	1	0	0	0	0	0	0	0	1	4512	1074	38	1		1	DHX34	19	47876120	Silent	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	5001260	47876120	11252863	53	8656											
GLTSCR2	29997	mdanderson.org	37	chr19	48258024	48258024	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcggatggtgagggggAgccaggccagggcgaggggc	7	3	24	7	2	0	1	0	1	0	0	1	5	0	4	2	9	1	0	2	9	0	0			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr19:48258024A>G	ENST00000246802.5	+	8	967	c.929A>G	c.(928-930)gAg>gGg	p.E310G	CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	310						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)		GGTGAGGGGGAGCCAGGCCAG	0.716																																					p.E310G	Colon(58;613 1041 9473 10089 15241)												.	.			0			c.A929G												9	14	13					19																	48258024		2049	4057	6106	SO:0001583	missense	29997	exon8			AGGGGGAGCCAGG	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.929A>G	19.37:g.48258024A>G	ENSP00000246802:p.Glu310Gly		35	0	0		23	0.13	3	NM_015710	1334	0	1	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.145481	0.57044	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.50277	0.75	3.63	2.57	0.30868	.	0.328592	0.27375	N	0.019657	T	0.55561	0.1928	M	0.62723	1.935	0.30544	N	0.766194	D;D;D	0.61080	0.98;0.98;0.989	P;P;P	0.62435	0.831;0.861;0.902	T	0.54370	-0.8304	10	0.37606	T	0.19	-15.632	5.9924	0.19474	0.8733:0.0:0.1267:0.0	.	310;310;308	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	G	310	ENSP00000246802:E310G	ENSP00000246802:E310G	E	+	2	0	GLTSCR2	52949836	0.723000	0.28027	0.102000	0.21198	0.345000	0.29048	1.826000	0.39092	0.514000	0.28300	0.338000	0.21704	GAG			0.716	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464870.1		NM_015710		G	48258024	A	G	48258024	3	3	115	1	0	0	0	0	1	0	0	0	6489	304	11	4	959	4	GLTSCR2	19	48258024	Missense_Mutation	SNP	A	TCGA-XE-AANR-01A-11D-A435-10	381904	48258024	10870959	54	8657											
SHANK1	50944	mdanderson.org	37	chr19	51171612	51171612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacgggtgacatggccGgggcggggctgggcgaggag	5	3	25	8	4	0	1	0	1	0	0	0	3	0	2	1	10	0	2	1	10	0	0			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr19:51171612G>T	ENST00000293441.1	-	22	3623	c.3605C>A	c.(3604-3606)cCg>cAg	p.P1202Q	SHANK1_ENST00000391814.1_Missense_Mutation_p.P1210Q|SYT3_ENST00000544769.1_5'UTR|SHANK1_ENST00000359082.3_Missense_Mutation_p.P1193Q|SHANK1_ENST00000391813.1_Missense_Mutation_p.P589Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1202					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)		tgacatggccggggcggggct	0.816																																					p.P1202Q													.	.			0			c.C3605A												2	3	3					19																	51171612		399	1003	1402	SO:0001583	missense	50944	exon22			ATGGCCGGGGCGG	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.3605C>A	19.37:g.51171612G>T	ENSP00000293441:p.Pro1202Gln		13	0	0		13	0.15	2	NM_016148	0		0	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	7.281	0.609061	0.14066	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.40756	1.14;1.65;1.05;1.02	1.5	1.5	0.22942	.	0.204155	0.30602	U	0.009278	T	0.43500	0.1250	L	0.36672	1.1	0.27403	N	0.954791	D;D	0.64830	0.989;0.994	P;D	0.66716	0.884;0.946	T	0.23691	-1.0181	10	0.20519	T	0.43	.	6.3769	0.21513	0.0:0.0:1.0:0.0	.	1202;589	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	1202;589;1193;1210	ENSP00000293441:P1202Q;ENSP00000375689:P589Q;ENSP00000351984:P1193Q;ENSP00000375690:P1210Q	ENSP00000293441:P1202Q	P	-	2	0	SHANK1	55863424	1.000000	0.71417	0.987000	0.45799	0.348000	0.29142	2.035000	0.41155	0.819000	0.34492	0.165000	0.16767	CCG			0.816	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268071.1		NM_016148		T	51171612	G	T	51171612	3	4	115	1	0	0	0	0	1	0	0	0	14287	1116	39	1	2888	1	SHANK1	19	51171612	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	2913588	51171612	7957371	55	8658											
C19orf75	284369	mdanderson.org	37	chr19	51768757	51768757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgtggatggcatggatgGcagcctccaagtgacttcca	8	9	15	9	0	0	1	0	1	0	0	2	3	2	3	3	5	1	2	3	5	1	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr19:51768757G>A	ENST00000316401.7	+	3	539	c.158G>A	c.(157-159)gGc>gAc	p.G53D	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	416	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										GGCATGGATGGCAGCCTCCAA	0.577																																					p.G53D													.	.			0			c.G158A												61	54	56					19																	51768757		2203	4300	6503	SO:0001583	missense	284369	exon3			TGGATGGCAGCCT	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 75", "sialic acid binding Ig-like lectin 23, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 7"	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.158G>A	19.37:g.51768757G>A	ENSP00000321249:p.Gly53Asp		146	0	0		101	0.05	5	NM_173635	0		0	Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	G	0.340	-0.950805	0.02285	.	.	ENSG00000179213	ENST00000316401	T	0.41758	0.99	3.63	-2.27	0.06846	Immunoglobulin-like fold (1);	1.679820	0.03729	N	0.253140	T	0.21718	0.0523	N	0.13235	0.315	0.09310	N	1	B	0.18461	0.028	B	0.17433	0.018	T	0.24368	-1.0162	10	0.02654	T	1	-7.8328	7.6042	0.28093	0.6459:0.0:0.3541:0.0	.	53	Q8N7X8	CS075_HUMAN	D	53	ENSP00000321249:G53D	ENSP00000321249:G53D	G	+	2	0	C19orf75	56460569	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.177000	0.09796	-0.292000	0.08999	-0.142000	0.14014	GGC			0.577	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464161.2		NM_173635		A	51768757	G	A	51768757	3	1	115	1	0	0	0	0	1	0	0	0	1951	1203	42	2	164	2	C19orf75	19	51768757	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	597145	51768757	7360226	56	8659											
RRBP1	6238	broad.mit.edu	37	chr20	17617269	17617269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtgctcccggtagctggCctgcatgcgtgcctgcacag	5	8	13	15	3	0	0	0	0	0	0	1	0	1	0	3	2	6	5	3	2	1	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr20:17617269C>T	ENST00000377813.1	-	6	2593	c.2290G>A	c.(2290-2292)Gcc>Acc	p.A764T	RRBP1_ENST00000455029.2_Missense_Mutation_p.A105T|RRBP1_ENST00000377807.2_Missense_Mutation_p.A331T|RRBP1_ENST00000360807.4_Missense_Mutation_p.A331T|RRBP1_ENST00000246043.4_Missense_Mutation_p.A764T			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	764					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CGGTAGCTGGCCTGCATGCGT	0.652																																					p.A331T													.	RRBP1	157		0			c.G991A												89	80	83					20																	17617269		2203	4300	6503	SO:0001583	missense	6238	exon6			AGCTGGCCTGCAT	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2290G>A	20.37:g.17617269C>T	ENSP00000367044:p.Ala764Thr		42	0	0		52	0.08	4	NM_004587	143	0	0	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	20.4	3.984135	0.74474	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.79	4.83	0.62350	.	0.000000	0.37348	N	0.002136	T	0.34337	0.0894	L	0.49126	1.545	0.58432	D	0.999999	P	0.49358	0.923	P	0.56042	0.79	T	0.02713	-1.1120	10	0.27082	T	0.32	-17.502	15.8832	0.79219	0.0:0.8644:0.1356:0.0	.	331	Q9P2E9-3	.	T	331;764;331;764;105	ENSP00000354045:A331T;ENSP00000367044:A764T;ENSP00000367038:A331T;ENSP00000246043:A764T;ENSP00000401206:A105T	ENSP00000246043:A764T	A	-	1	0	RRBP1	17565269	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	6.081000	0.71309	1.418000	0.47098	0.561000	0.74099	GCC			0.652	RRBP1-002	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000078125.1		NM_001042576		T	17617269	C	T	17617269	3	4	115	1	0	0	0	0	1	0	0	0	13701	739	26	2	2022	2	RRBP1	20	17617269	Missense_Mutation	SNP	C	TCGA-XE-AANR-01A-11D-A435-10		17617269	45408251	57	8660											
BMP7	655	mdanderson.org	37	chr20	55841035	55841035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcatctcccgccgctcctgGctgcggaggcgccggtggat	3	8	15	15	5	1	0	0	0	1	0	3	2	2	2	4	5	2	3	4	5	0	0			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr20:55841035G>T	ENST00000395863.3	-	1	649	c.144C>A	c.(142-144)agC>agA	p.S48R	BMP7_ENST00000450594.2_Missense_Mutation_p.S48R|BMP7_ENST00000395864.3_Missense_Mutation_p.S48R|RP4-813D12.3_ENST00000412321.1_lincRNA	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	48					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCCGCTCCTGGCTGCGGAGGC	0.687																																					p.S48R													.	.			0			c.C144A												8	8	8					20																	55841035		2116	4140	6256	SO:0001583	missense	655	exon1			CTCCTGGCTGCGG		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.144C>A	20.37:g.55841035G>T	ENSP00000379204:p.Ser48Arg		34	0	0		33	0.09	3	NM_001719	1	0	0	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051154	0.55218	.	.	ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594	T;T;T	0.64618	-0.11;-0.11;-0.11	5.04	1.97	0.26223	Transforming growth factor-beta, N-terminal (1);	0.116551	0.85682	D	0.000000	T	0.63022	0.2476	L	0.46741	1.465	0.50313	D	0.999867	B;B;D	0.57257	0.02;0.009;0.979	B;B;P	0.57468	0.016;0.026;0.821	T	0.56019	-0.8048	10	0.16896	T	0.51	.	10.4331	0.44419	0.2139:0.0:0.7861:0.0	.	48;48;48	B1AKZ9;P18075;B1AL00	.;BMP7_HUMAN;.	R	48	ENSP00000379204:S48R;ENSP00000379205:S48R;ENSP00000398687:S48R	ENSP00000379204:S48R	S	-	3	2	BMP7	55274442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.033000	0.57282	0.141000	0.18875	0.491000	0.48974	AGC			0.687	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000079831.2				T	55841035	G	T	55841035	3	4	115	1	0	0	0	0	1	0	0	0	1465	1194	42	2	1179	2	BMP7	20	55841035	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	38223766	55841035	7184485	58	8661											
LAMA5	3911	mdanderson.org	37	chr20	60898602	60898602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggcgcaggcagccacGgcaggcgcccgtcagggggt	5	4	20	12	4	1	0	1	0	0	0	1	0	1	0	2	7	1	3	2	7	0	0			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr20:60898602G>T	ENST00000252999.3	-	45	6040	c.5974C>A	c.(5974-5976)Cgt>Agt	p.R1992S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1992	Laminin EGF-like 19. {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)			AGGCAGCCACGGCAGGCGCCC	0.706																																					p.R1992S													.	.			0			c.C5974A												8	14	12					20																	60898602		2153	4247	6400	SO:0001583	missense	3911	exon45			AGCCACGGCAGGC	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.5974C>A	20.37:g.60898602G>T	ENSP00000252999:p.Arg1992Ser		54	0	0		45	0.07	3	NM_005560	13	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	1.988	-0.432542	0.04669	.	.	ENSG00000130702	ENST00000252999	T	0.60797	0.16	3.72	0.126	0.14722	EGF-like, laminin (4);	0.887861	0.09803	U	0.753887	T	0.28067	0.0692	N	0.04508	-0.205	0.26535	N	0.974184	B	0.14012	0.009	B	0.10450	0.005	T	0.20638	-1.0269	10	0.21540	T	0.41	.	3.5487	0.07837	0.3958:0.0:0.312:0.2922	.	1992	O15230	LAMA5_HUMAN	S	1992	ENSP00000252999:R1992S	ENSP00000252999:R1992S	R	-	1	0	LAMA5	60331997	0.947000	0.32204	0.048000	0.18961	0.617000	0.37484	1.372000	0.34261	0.550000	0.28991	0.297000	0.19635	CGT			0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		T	60898602	G	T	60898602	3	4	115	1	0	0	0	0	1	0	0	0	8624	1116	39	1	5257	1	LAMA5	20	60898602	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	5057567	60898602	2126918	59	8662											
TNFRSF6B	8771	mdanderson.org	37	chr20	62328205	62328205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccggtgccggctgtacgcGgagtggcagaaacacccacc	8	5	14	14	4	0	1	0	0	0	1	0	2	0	2	4	4	4	3	4	4	2	1	rs61760055	byFrequency	TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr20:62328205G>A	ENST00000369996.1	+	1	185	c.85G>A	c.(85-87)Gga>Aga	p.G29R	ARFRP1_ENST00000485858.1_5'Flank|RTEL1_ENST00000318100.4_Missense_Mutation_p.R1331Q|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R1331Q	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	29					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GGCTGTACGCGGAGTGGCAGA	0.706													G|||	11	0.00219649	0	0	5008	,	,		13358	0.0109		0	False		,,,				2504	0				p.G29R													.	.			0			c.G85A												19	19	19					20																	62328205		2177	4274	6451	SO:0001583	missense	8771	exon1			GTACGCGGAGTGG	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.85G>A	20.37:g.62328205G>A	ENSP00000359013:p.Gly29Arg		49	0	0		71	0.07	5	NM_003823	10	0	0		Missense_Mutation	SNP	ENST00000369996.1	37	CCDS13532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.82|13.82	2.351030|2.351030	0.41599|0.41599	.|.	.|.	ENSG00000243509|ENSG00000258366	ENST00000370006;ENST00000369996;ENST00000342852|ENST00000318100	T|D	0.71222|0.82803	-0.55|-1.65	3.23|3.23	0.0726|0.0726	0.14387|0.14387	.|.	.|2.043580	.|0.03935	.|U	.|0.285886	T|T	0.79695|0.79695	0.4490|0.4490	L|L	0.61218|0.61218	1.895|1.895	0.09310|0.09310	N|N	1|1	B|.	0.21688|.	0.059|.	B|.	0.10450|.	0.005|.	T|T	0.56595|0.56595	-0.7953|-0.7953	9|8	0.32370|0.21540	T|T	0.25|0.41	-28.0394|-28.0394	2.7912|2.7912	0.05388|0.05388	0.3288:0.0:0.296:0.3752|0.3288:0.0:0.296:0.3752	rs61760055|rs61760055	29|.	O95407|.	TNF6B_HUMAN|.	R|Q	29|1331	ENSP00000359013:G29R|ENSP00000322287:R1331Q	ENSP00000342328:G29R|ENSP00000322287:R1331Q	G|R	+|+	1|2	0|0	TNFRSF6B|AL353715.1	61798649|61798649	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.397000|-0.397000	0.07269|0.07269	-0.157000|-0.157000	0.11059|0.11059	0.462000|0.462000	0.41574|0.41574	GGA|CGG			0.706	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080182.1				A	62328205	G	A	62328205	3	1	115	1	0	0	0	0	1	0	0	0	16321	1117	39	1	87	1	TNFRSF6B	20	62328205	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	1429603	62328205	697315	60	8663											
SNAP29	9342	bcgsc.ca	37	chr22	21242096	21242096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagatgtcaacataaaaaGcacagaaagaaaagttcgac	20	7	8	6	1	1	3	1	0	0	3	2	4	1	3	0	0	2	3	0	0	8	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr22:21242096G>T	ENST00000215730.7	+	5	877	c.749G>T	c.(748-750)aGc>aTc	p.S250I	AC007308.7_ENST00000608856.1_RNA	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	250	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AACATAAAAAGCACAGAAAGA	0.393																																					p.S250I													.	SNAP29	22		0			c.G749T												123	111	115					22																	21242096		2203	4300	6503	SO:0001583	missense	9342	exon5			TAAAAAGCACAGA	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.749G>T	22.37:g.21242096G>T	ENSP00000215730:p.Ser250Ile		70	0	0		49	0.08	4	NM_004782	73	0	0		Missense_Mutation	SNP	ENST00000215730.7	37	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952974	0.73902	.	.	ENSG00000099940	ENST00000215730;ENST00000439214	.	.	.	5.78	3.57	0.40892	Target SNARE coiled-coil domain (3);	0.207946	0.56097	D	0.000034	T	0.62502	0.2433	L	0.48877	1.53	0.45791	D	0.998678	P	0.49307	0.922	P	0.53861	0.736	T	0.62562	-0.6828	9	0.35671	T	0.21	-17.1009	15.4289	0.75077	0.0:0.3882:0.6118:0.0	.	250	O95721	SNP29_HUMAN	I	250;157	.	ENSP00000215730:S250I	S	+	2	0	SNAP29	19572096	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.681000	0.25320	1.439000	0.47511	0.655000	0.94253	AGC			0.393	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320000.4		NM_004782		T	21242096	G	T	21242096	3	4	115	1	0	0	0	0	1	0	0	0	14854	971	34	2	767	2	SNAP29	22	21242096	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		21242096	30062470	61	8664											
GGT5	2687	mdanderson.org	37	chr22	24628058	24628058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcatctggcccagccTccccgtgtagaagacctcca	9	6	8	18	1	1	2	0	0	1	2	3	2	3	2	7	1	2	2	7	1	2	1			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr22:24628058T>C	ENST00000327365.4	-	5	1131	c.715A>G	c.(715-717)Agg>Ggg	p.R239G	GGT5_ENST00000263112.7_Missense_Mutation_p.R207G|GGT5_ENST00000398292.3_Missense_Mutation_p.R239G|GGT5_ENST00000418439.2_Missense_Mutation_p.R162G	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	239					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGCCCAGCCTCCCCGTGTAG	0.637																																					p.R239G													.	.			0			c.A715G												58	48	51					22																	24628058		2203	4300	6503	SO:0001583	missense	2687	exon5			CCAGCCTCCCCGT	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.715A>G	22.37:g.24628058T>C	ENSP00000330080:p.Arg239Gly		88	0.0113636364	1		39	0.08	3	NM_001099781	18	0	0	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	T	8.833	0.940384	0.18281	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	4.73	-1.74	0.08056	.	1.309180	0.04547	N	0.389230	T	0.06645	0.0170	L	0.41573	1.285	0.09310	N	1	P;B;B;B;B	0.40794	0.729;0.018;0.047;0.018;0.047	B;B;B;B;B	0.37480	0.251;0.062;0.103;0.012;0.103	T	0.31052	-0.9957	10	0.37606	T	0.19	-5.7966	2.0777	0.03628	0.1376:0.178:0.4238:0.2606	.	162;207;239;239;239	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	G	239;207;154;239;162	ENSP00000330080:R239G;ENSP00000263112:R207G;ENSP00000381340:R239G;ENSP00000392146:R162G	ENSP00000263112:R207G	R	-	1	2	GGT5	22958058	0.000000	0.05858	0.064000	0.19789	0.679000	0.39708	-0.722000	0.04958	-0.033000	0.13736	0.397000	0.26171	AGG			0.637	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000320119.1		NM_004121		C	24628058	T	C	24628058	3	2	115	1	0	0	0	0	1	0	0	0	6376	1550	54	4	1080	4	GGT5	22	24628058	Missense_Mutation	SNP	T	TCGA-XE-AANR-01A-11D-A435-10	3385962	24628058	26676508	62	8665											
RNF215	200312	mdanderson.org	37	chr22	30775729	30775729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaatttgcacagtgggcagGtctgctggagcatcagccag	9	9	14	9	0	2	1	1	1	1	0	2	2	2	2	1	3	4	4	1	3	1	1	rs149275092	byFrequency	TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chr22:30775729G>T	ENST00000382363.3	-	8	1156	c.1082C>A	c.(1081-1083)aCc>aAc	p.T361N	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	361						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CAGTGGGCAGGTCTGCTGGAG	0.622																																					p.T361N													.	.			0			c.C1082A												61	57	59					22																	30775729		2199	4287	6486	SO:0001583	missense	200312	exon8			GGGCAGGTCTGCT		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.1082C>A	22.37:g.30775729G>T	ENSP00000371800:p.Thr361Asn		72	0	0		53	0.06	3	NM_001017981	26	0	0	A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	CCDS33633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.532901|3.532901	0.64972|0.64972	.|.	.|.	ENSG00000099999|ENSG00000099999	ENST00000215798|ENST00000421022;ENST00000382363	.|T;T	.|0.69435	.|-0.4;0.87	4.71|4.71	4.71|4.71	0.59529|0.59529	.|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|T	0.79528|0.79528	0.4461|0.4461	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.81839|0.81839	-0.0748|-0.0748	5|10	.|0.87932	.|D	.|0	-19.5122|-19.5122	15.6269|15.6269	0.76867|0.76867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|361	.|Q9Y6U7	.|RN215_HUMAN	E|N	298|12;361	.|ENSP00000396278:T12N;ENSP00000371800:T361N	.|ENSP00000371800:T361N	D|T	-|-	3|2	2|0	RNF215|RNF215	29105729|29105729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.727000|8.727000	0.91480|0.91480	2.431000|2.431000	0.82371|0.82371	0.561000|0.561000	0.74099|0.74099	GAC|ACC			0.622	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320960.1		NM_001017981		T	30775729	G	T	30775729	3	4	115	1	0	0	0	0	1	0	0	0	13502	1261	44	3	59	3	RNF215	22	30775729	Missense_Mutation	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	6147671	30775729	20528837	63	8666											
GPM6B	2824	mdanderson.org	37	chrX	13825789	13825789	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggactgctcaaggggctaGccctgtcccccagggttggc	5	8	14	14	0	1	0	1	0	0	0	2	1	2	1	3	5	2	3	3	5	2	2			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chrX:13825789G>T	ENST00000356942.5	-	1	503				GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000493677.1_Missense_Mutation_p.A28D|GPM6B_ENST00000316715.4_Missense_Mutation_p.A54D|GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000355135.2_Missense_Mutation_p.A54D	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B						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						CAAGGGGCTAGCCCTGTCCCC	0.483																																					p.A54D													.	.			0			c.C161A												139	125	130					X																	13825789		2203	4300	6503	SO:0001627	intron_variant	2824	exon2			GGGCTAGCCCTGT		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.61+9173C>A	X.37:g.13825789G>T			107	0	0		117	0.04	5	NM_001001996	0		0	O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	37	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825686	0.50739	.	.	ENSG00000046653	ENST00000316715;ENST00000493677;ENST00000355135	D;D;D	0.99186	-5.53;-5.52;-5.52	5.85	4.88	0.63580	.	0.231844	0.36482	N	0.002566	D	0.93996	0.8077	N	0.08118	0	0.80722	D	1	B;B;B	0.29085	0.037;0.232;0.037	B;B;B	0.31245	0.014;0.126;0.023	D	0.89937	0.4070	10	0.12103	T	0.63	-0.7638	3.6465	0.08187	0.309:0.0:0.691:0.0	.	28;54;54	B7Z613;Q13491-3;Q8N956	.;.;.	D	54;28;54	ENSP00000316861:A54D;ENSP00000419904:A28D;ENSP00000347258:A54D	ENSP00000316861:A54D	A	-	2	0	GPM6B	13735710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.248000	0.58760	2.469000	0.83416	0.600000	0.82982	GCT			0.483	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055822.1		NM_001001995		T	13825789	G	T	13825789	1	4	115	0	1	0	0	0	0	0	0	0	6630	971	34	2		2	GPM6B	23	13825789	Intron	SNP	G	TCGA-XE-AANR-01A-11D-A435-10		13825789	141444771	64	8667											
DLG3	1741	broad.mit.edu	37	chrX	69713237	69713237	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacagtcgatcaaaacGaaacgtaaaaagagtttccg	16	9	7	9	4	2	1	2	0	0	1	4	3	3	1	1	0	2	2	1	0	6	3			TCGA-XE-AANR-01A-11D-A435-10	TCGA-XE-AANR-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13cd0963-4be6-4087-b13b-50df1732c263	b4cb7d5c-2f34-456b-a858-320fde2a5f2b	g.chrX:69713237G>T	ENST00000374360.3	+	12	2006				DLG3_ENST00000374355.3_Silent_p.T258T|DLG3_ENST00000194900.4_Intron|DLG3_ENST00000542398.1_Silent_p.T112T	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CGATCAAAACGAAACGTAAAA	0.388																																					p.T258T													.	DLG3	100		0			c.G774T												64	52	55					X																	69713237		1916	4118	6034	SO:0001627	intron_variant	1741	exon7			CAAAACGAAACGT	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1773+791G>T	X.37:g.69713237G>T			252	0	0		290	0.01	4	NM_020730	76	0	0	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	ENST00000374360.3	37	CCDS14403.1																																																																																					0.388	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057074.2		NM_021120		T	69713237	G	T	69713237	1	4	115	0	1	0	0	0	0	0	0	0	4561	1045	37	1		1	DLG3	23	69713237	Intron	SNP	G	TCGA-XE-AANR-01A-11D-A435-10	55887448	69713237	85557323	65	8668											
DPYD	1806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	97839132	97839132	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttacctgcccacaggccagGcccattcctctttctcccat	6	11	5	19	0	2	0	0	0	2	0	4	0	3	0	6	2	2	0	6	2	1	3			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr1:97839132G>T	ENST00000370192.3	-	16	2143	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	681					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)	CACAGGCCAGGCCCATTCCTC	0.463																																					p.G681G													.	.			0			c.C2043A												60	58	59					1																	97839132		2203	4300	6503	SO:0001819	synonymous_variant	1806	exon16			GGCCAGGCCCATT	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.2043C>A	1.37:g.97839132G>T			262	0	0		202	0.16	32	NM_000110	2	0	0	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																					0.463	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000095698.3		NM_000110		T	97839132	G	T	97839132	2	4	116	1	0	0	0	0	0	0	0	1	4750	1190	42	2		2	DPYD	1	97839132	Silent	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		97839132	151411489	1	8669											
CELF3	11189	mdanderson.org	37	chr1	151679994	151679994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccatacctgaggatgggGtgatgggggtggcgatgagg	8	7	21	5	1	0	3	0	3	0	0	0	5	0	4	2	8	1	0	2	8	1	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr1:151679994G>T	ENST00000290583.4	-	7	1554	c.761C>A	c.(760-762)aCc>aAc	p.T254N	AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Missense_Mutation_p.T71N|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.T254N|RIIAD1_ENST00000326413.3_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	254					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGAGGATGGGGTGATGGGGGT	0.637																																					p.T254N													.	.			0			c.C761A												31	29	30					1																	151679994		2203	4300	6503	SO:0001583	missense	11189	exon7			GATGGGGTGATGG	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.761C>A	1.37:g.151679994G>T	ENSP00000290583:p.Thr254Asn		28	0	0		19	0.11	2	NM_007185	0		0	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.93|15.93	2.979567|2.979567	0.53827|0.53827	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000392706;ENST00000368833	.|T;T;T	.|0.16457	.|2.34;2.38;3.41	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	.|0.146929	.|0.45867	.|D	.|0.000339	T|T	0.28797|0.28797	0.0714|0.0714	M|M	0.74647|0.74647	2.275|2.275	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;D;P;P;P	.|0.62365	.|0.913;0.845;0.991;0.763;0.605;0.634	.|P;P;P;B;B;B	.|0.60541	.|0.536;0.52;0.876;0.226;0.264;0.215	T|T	0.07731|0.07731	-1.0757|-1.0757	5|10	.|0.59425	.|D	.|0.04	-21.5519|-21.5519	14.9467|14.9467	0.71039|0.71039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|71;254;254;253;254;253	.|B4DQL3;Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;.;CELF3_HUMAN;.	T|N	255|254;254;71;253	.|ENSP00000290585:T254N;ENSP00000290583:T254N;ENSP00000376470:T71N	.|ENSP00000290583:T254N	P|T	-|-	1|2	0|0	CELF3|CELF3	149946618|149946618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.606000|8.606000	0.90888|0.90888	2.094000|2.094000	0.63399|0.63399	0.650000|0.650000	0.86243|0.86243	CCC|ACC			0.637	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000036663.2		NM_007185		T	151679994	G	T	151679994	3	4	116	1	0	0	0	0	1	0	0	0	3219	1261	44	3	660	3	CELF3	1	151679994	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	53840862	151679994	97570627	2	8670											
SLAMF1	6504	broad.mit.edu	37	chr1	160604502	160604502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagatattgtcagcatgctGggggccgagggtgagggaca	9	8	18	6	1	1	2	1	1	0	1	1	4	1	3	1	4	2	3	1	4	2	3			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr1:160604502G>T	ENST00000302035.6	-	3	950	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	SLAMF1_ENST00000235739.5_Missense_Mutation_p.Q201K|SLAMF1_ENST00000538290.1_Missense_Mutation_p.Q201K|SLAMF1_ENST00000355199.3_Missense_Mutation_p.Q201K	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	201	Ig-like C2-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)			TCAGCATGCTGGGGGCCGAGG	0.607																																					p.Q201K													.	SLAMF1	74		0			c.C601A												137	128	131					1																	160604502		2203	4300	6503	SO:0001583	missense	6504	exon3			CATGCTGGGGGCC	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.601C>A	1.37:g.160604502G>T	ENSP00000306190:p.Gln201Lys		193	0	0		159	0.03	4	NM_003037	17	0	0	Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219010	0.39201	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.3	3.36	0.38483	Immunoglobulin-like (1);	0.677563	0.15378	N	0.265443	T	0.38453	0.1041	M	0.71920	2.185	0.32198	N	0.578175	D	0.60575	0.988	P	0.59012	0.85	T	0.39583	-0.9607	10	0.05721	T	0.95	-14.5377	9.5434	0.39266	0.0:0.0:0.7908:0.2092	.	201	Q13291	SLAF1_HUMAN	K	201	ENSP00000306190:Q201K;ENSP00000235739:Q201K;ENSP00000438406:Q201K;ENSP00000347333:Q201K	ENSP00000235739:Q201K	Q	-	1	0	SLAMF1	158871126	0.556000	0.26538	0.950000	0.38849	0.923000	0.55619	1.022000	0.30052	1.352000	0.45808	0.650000	0.86243	CAG			0.607	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060454.1				T	160604502	G	T	160604502	3	4	116	1	0	0	0	0	1	0	0	0	14390	1357	47	3	426	3	SLAMF1	1	160604502	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	8924508	160604502	88646119	3	8671											
EFCAB2	84288	mdanderson.org	37	chr1	245245457	245245457	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacagaaatactactaGaaagaaagtaagtaagtaaa	22	8	8	3	0	0	5	0	2	0	3	0	5	0	5	0	0	2	3	0	0	10	6			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr1:245245457G>T	ENST00000366522.2	+	5	805	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	EFCAB2_ENST00000366523.1_Nonsense_Mutation_p.E86*|EFCAB2_ENST00000447569.2_Nonsense_Mutation_p.E86*|EFCAB2_ENST00000487845.1_3'UTR			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	222							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			AATACTACTAGAAAGAAAGTA	0.343																																					p.E86X													.	.			0			c.G256T												76	74	74					1																	245245457		2203	4300	6503	SO:0001587	stop_gained	84288	exon5			CTACTAGAAAGAA	AB209286	CCDS31082.1, CCDS44341.1	1q44	2014-07-18			ENSG00000203666	ENSG00000203666		"EF-hand domain containing"	28166	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 8"					23427265	Standard	NM_032328		Approved	MGC12458, DRC8, CFAP200	uc001ibc.2	Q5VUJ9	OTTHUMG00000040474	ENST00000366522.2:c.664G>T	1.37:g.245245457G>T	ENSP00000355479:p.Glu222*		34	0	0		25	0.12	3	NM_032328	7	0	0	B4DZE9|Q59G23|Q9BS36	Nonsense_Mutation	SNP	ENST00000366522.2	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.16|16.16|16.16	3.045420|3.045420|3.045420	0.55110|0.55110|0.55110	.|.|.	.|.|.	ENSG00000203666|ENSG00000203666|ENSG00000203666	ENST00000366523;ENST00000366522;ENST00000447569|ENST00000366521|ENST00000551317;ENST00000425550	.|.|.	.|.|.	.|.|.	5.62|5.62|5.62	4.7|4.7|4.7	0.59300|0.59300|0.59300	.|.|.	0.072799|.|.	0.52532|.|.	D|.|.	0.000062|.|.	.|T|.	.|0.64864|.	.|0.2637|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.71034|.	.|-0.4709|.	.|3|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	14.3158|14.3158|14.3158	0.66450|0.66450|0.66450	0.0:0.1498:0.8502:0.0|0.0:0.1498:0.8502:0.0|0.0:0.1498:0.8502:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|Y	86;222;86|144|77	.|.|.	ENSP00000355479:E222X|.|.	E|R|X	+|+|+	1|2|3	0|0|2	EFCAB2|EFCAB2|EFCAB2	243312080|243312080|243312080	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.541000|0.541000|0.541000	0.28102|0.28102|0.28102	0.454000|0.454000|0.454000	0.32378|0.32378|0.32378	6.820000|6.820000|6.820000	0.75267|0.75267|0.75267	1.359000|1.359000|1.359000	0.45940|0.45940|0.45940	-0.310000|-0.310000|-0.310000	0.09108|0.09108|0.09108	GAA|AGA|TAG			0.343	EFCAB2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000097407.2				T	245245457	G	T	245245457	4	4	116	1	0	0	0	0	0	1	0	0	4939	943	33	3	270	3	EFCAB2	1	245245457	Nonsense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	84640955	245245457	4005164	4	8672											
OR2T34	127068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	248737452	248737452	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagcacaggtacgtgaGcatcttatagagggagacgt	12	8	14	7	2	1	3	0	1	1	2	1	5	1	3	0	2	4	4	0	2	3	3			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr1:248737452G>C	ENST00000328782.2	-	1	628	c.607C>G	c.(607-609)Ctc>Gtc	p.L203V		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	203						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(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AGGTACGTGAGCATCTTATAG	0.512																																					p.L203V													.	.			0			c.C607G												193	208	203					1																	248737452		2102	4300	6402	SO:0001583	missense	127068	exon1			ACGTGAGCATCTT	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.607C>G	1.37:g.248737452G>C	ENSP00000330904:p.Leu203Val		391	0	0		356	0.17	59	NM_001001821	0		0	B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.514612	0.00975	.	.	ENSG00000183310	ENST00000328782	T	0.37915	1.17	2.37	-1.22	0.09494	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.13970	0.0338	N	0.05574	-0.02	0.09310	N	1	B	0.14805	0.011	B	0.24006	0.05	T	0.35375	-0.9791	9	0.08179	T	0.78	.	3.8244	0.08848	0.4069:0.3304:0.2627:0.0	.	203	Q8NGX1	O2T34_HUMAN	V	203	ENSP00000330904:L203V	ENSP00000330904:L203V	L	-	1	0	OR2T34	246804075	0.000000	0.05858	0.374000	0.26016	0.071000	0.16799	-0.097000	0.11042	0.214000	0.20742	0.123000	0.15791	CTC			0.512	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097138.1		NM_001001821		C	248737452	G	C	248737452	3	2	116	1	0	0	0	0	1	0	0	0	11042	971	34	5	353	5	OR2T34	1	248737452	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	3491995	248737452	513169	5	8673											
FAM178B	51252	mdanderson.org	37	chr2	97633354	97633354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctctcgctcctgctccaGggcctgttccctataggaag	5	11	9	16	1	1	0	0	0	1	0	6	1	4	1	5	2	1	3	5	2	3	3			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr2:97633354G>T	ENST00000417561.3	-	9	1080	c.1081C>A	c.(1081-1083)Ctg>Atg	p.L361M	FAM178B_ENST00000490605.2_Missense_Mutation_p.L213M|FAM178B_ENST00000327896.3_Missense_Mutation_p.L181M			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	361										large_intestine(1)|ovary(1)	2						TCCTGCTCCAGGGCCTGTTCC	0.582																																					p.L213M													.	.			0			c.C637A												30	32	31					2																	97633354		692	1591	2283	SO:0001583	missense	51252	exon5			GCTCCAGGGCCTG	AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.1081C>A	2.37:g.97633354G>T	ENSP00000413245:p.Leu361Met		28	0	0		23	0.09	2	NM_001122646	5	0	0	A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	ENST00000417561.3	37		.	.	.	.	.	.	.	.	.	.	G	9.845	1.192213	0.21954	.	.	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000490605	T;T;T	0.50277	0.75;0.79;0.78	3.53	1.71	0.24356	.	.	.	.	.	T	0.41419	0.1158	L	0.44542	1.39	0.19575	N	0.999963	.	.	.	.	.	.	T	0.32079	-0.9920	7	0.42905	T	0.14	.	5.6098	0.17398	0.2522:0.0:0.7478:0.0	.	.	.	.	M	361;181;213	ENSP00000413245:L361M;ENSP00000333553:L181M;ENSP00000429896:L213M	ENSP00000333553:L181M	L	-	1	2	FAM178B	96997081	0.000000	0.05858	0.983000	0.44433	0.138000	0.21146	0.068000	0.14531	0.488000	0.27723	0.655000	0.94253	CTG			0.582	FAM178B-202	KNOWN	basic	protein_coding	protein_coding				NM_016490		T	97633354	G	T	97633354	3	4	116	1	0	0	0	0	1	0	0	0	5514	991	35	3	1485	3	FAM178B	2	97633354	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		97633354	145566019	6	8674											
ACVR2A	92	broad.mit.edu	37	chr2	148676128	148676128	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgaggatatacctggccTaaaagatggccacaaacctg	15	7	9	10	0	0	2	0	1	0	1	0	3	0	3	4	3	2	0	4	3	5	3			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr2:148676128T>A	ENST00000241416.7	+	7	1565	c.929T>A	c.(928-930)cTa>cAa	p.L310Q	ACVR2A_ENST00000535787.1_Missense_Mutation_p.L202Q|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L310Q	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	310	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)			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)		ATACCTGGCCTAAAAGATGGC	0.378																																					p.L310Q													.	ACVR2A	125		0			c.T929A												55	56	56					2																	148676128		2203	4300	6503	SO:0001583	missense	92	exon7			CTGGCCTAAAAGA		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.929T>A	2.37:g.148676128T>A	ENSP00000241416:p.Leu310Gln		137	0.0656934307	9		107	0.14	15	NM_001616	11	0	0	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852481	0.51270	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.87966	-2.32;-2.27;-2.32	5.63	3.22	0.36961	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138068	0.49305	D	0.000153	T	0.75539	0.3863	N	0.20685	0.6	0.46376	D	0.99901	B	0.19706	0.038	B	0.23419	0.046	T	0.63256	-0.6678	10	0.28530	T	0.3	.	7.3172	0.26507	0.0:0.0733:0.1448:0.7819	.	310	P27037	AVR2A_HUMAN	Q	310;202;310	ENSP00000241416:L310Q;ENSP00000439988:L202Q;ENSP00000384338:L310Q	ENSP00000241416:L310Q	L	+	2	0	ACVR2A	148392598	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	3.490000	0.53245	0.401000	0.25424	0.460000	0.39030	CTA			0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319051.1		NM_001616		A	148676128	T	A	148676128	3	1	116	1	0	0	0	0	1	0	0	0	223	1522	53	5	955	5	ACVR2A	2	148676128	Missense_Mutation	SNP	T	TCGA-XE-AANV-01A-11D-A435-10	51042774	148676128	94523245	7	8675											
STRADB	55437	hgsc.bcm.edu	37	chr2	202344886	202344886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgaaaaagactcataCtgggaattctagggctgcca	13	9	10	9	0	2	3	1	2	1	1	2	4	2	4	2	2	2	1	2	2	5	3	rs146098224		TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr2:202344886C>T	ENST00000194530.3	+	12	1610	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	415					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AAGACTCATACTGGGAATTCT	0.393																																					p.Y415Y													.	.			0			c.C1245T												134	136	135					2																	202344886		2203	4300	6503	SO:0001819	synonymous_variant	55437	exon12			CTCATACTGGGAA	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1245C>T	2.37:g.202344886C>T			142	0	0		146	0.07	10	NM_018571	155	0	0	Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	CCDS2348.1																																																																																					0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256297.1		NM_018571		T	202344886	C	T	202344886	2	4	116	1	0	0	0	0	0	0	0	1	15348	576	20	3		3	STRADB	2	202344886	Silent	SNP	C	TCGA-XE-AANV-01A-11D-A435-10	53668758	202344886	40854487	8	8676											
CPS1	1373	mdanderson.org	37	chr2	211444493	211444493	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactaaaataattcgggataAggtataatcatcatctttag	16	13	7	5	1	3	0	2	0	1	0	4	2	3	1	0	2	0	1	0	2	7	8			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr2:211444493A>T	ENST00000233072.5	+	5	723	c.527A>T	c.(526-528)aAg>aTg	p.K176M	CPS1_ENST00000430249.2_Splice_Site_p.K182M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	176	Anthranilate phosphoribosyltransferase homolog.				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)	ATTCGGGATAAGGTATAATCA	0.378																																					p.K182M													.	.			0			c.A545T												144	147	146					2																	211444493		2203	4300	6503	SO:0001630	splice_region_variant	1373	exon6			GGGATAAGGTATA	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	ENST00000233072.5:c.528+1A>T	2.37:g.211444493A>T			55	0	0		41	0.07	3	NM_001122633	7	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188143	0.78789	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.94687	-3.49;-3.49	5.52	5.52	0.82312	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96987	0.9016	M	0.89715	3.055	0.80722	D	1	D;P	0.57571	0.98;0.932	P;P	0.58577	0.841;0.781	D	0.96726	0.9536	10	0.37606	T	0.19	0.5463	14.2142	0.65783	1.0:0.0:0.0:0.0	.	186;176	Q59HF8;P31327	.;CPSM_HUMAN	M	182;184;176;176	ENSP00000402608:K182M;ENSP00000233072:K176M	ENSP00000233072:K176M	K	+	2	0	CPS1	211152738	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.356000	0.73046	2.106000	0.64143	0.482000	0.46254	AAG			0.378	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256569.5			Missense_Mutation	T	211444493	A	T	211444493	5	4	116	1	0	0	0	0	0	0	1	0	3825	86	3	5	567	5	CPS1	2	211444493	Splice_Site	SNP	A	TCGA-XE-AANV-01A-11D-A435-10	9099607	211444493	31754880	9	8677											
UGT1A10	54575	mdanderson.org	37	chr2	234545847	234545847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtatctttttagaaatGccctagaaatagcctctgaa	13	12	7	9	0	2	3	0	1	2	2	2	3	2	3	3	0	2	1	3	0	7	6			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr2:234545847G>T	ENST00000344644.5	+	1	748	c.679G>T	c.(679-681)Gcc>Tcc	p.A227S	UGT1A10_ENST00000373445.1_Missense_Mutation_p.A227S|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	227					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TTTTAGAAATGCCCTAGAAAT	0.428																																					p.A227S													.	.			0			c.G679T												214	228	224					2																	234545847		2203	4300	6503	SO:0001583	missense	54575	exon1			AGAAATGCCCTAG	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.679G>T	2.37:g.234545847G>T	ENSP00000343838:p.Ala227Ser		193	0.0051813472	1		133	0.04	5	NM_019075	0		0	O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	G	3.069	-0.191642	0.06299	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59906	0.23;0.23	3.52	2.57	0.30868	.	.	.	.	.	T	0.48370	0.1496	L	0.46157	1.445	0.09310	N	1	B;B	0.22146	0.013;0.065	B;B	0.28638	0.043;0.092	T	0.48822	-0.9001	9	0.72032	D	0.01	.	4.4365	0.11552	0.1326:0.0:0.4764:0.391	.	227;227	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	S	227	ENSP00000343838:A227S;ENSP00000362544:A227S	ENSP00000343838:A227S	A	+	1	0	UGT1A10	234210586	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	1.022000	0.30052	0.755000	0.32990	0.405000	0.27470	GCC			0.428	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130986.1		NM_019075		T	234545847	G	T	234545847	3	4	116	1	0	0	0	0	1	0	0	0	16969	1319	46	2	681	2	UGT1A10	2	234545847	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	23101354	234545847	8653526	10	8678											
PASK	23178	broad.mit.edu	37	chr2	242063441	242063441	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaaggaacaggcgggTcctggcggctgagtcgcgtt	6	7	18	10	4	0	1	0	1	0	0	2	2	1	2	1	6	1	4	1	6	2	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr2:242063441T>G	ENST00000405260.1	-	11	3525	c.2827A>C	c.(2827-2829)Acc>Ccc	p.T943P	PASK_ENST00000544142.1_Missense_Mutation_p.T757P|PASK_ENST00000403638.3_Missense_Mutation_p.T943P|PASK_ENST00000358649.4_Missense_Mutation_p.T943P|PASK_ENST00000539818.1_Missense_Mutation_p.T727P|PASK_ENST00000234040.4_Missense_Mutation_p.T943P	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	943					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AACAGGCGGGTCCTGGCGGCT	0.637																																					p.T943P													.	PASK	230		0			c.A2827C												48	51	50					2																	242063441		2203	4300	6503	SO:0001583	missense	23178	exon11			GGCGGGTCCTGGC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2827A>C	2.37:g.242063441T>G	ENSP00000384016:p.Thr943Pro		66	0.1818181818	12		57	0.25	14	NM_015148	110	0.07	8	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311424	0.60414	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.42;-0.46;0.5	4.87	-2.56	0.06268	.	0.220980	0.31279	N	0.007936	T	0.72471	0.3464	M	0.66939	2.045	0.09310	N	0.999997	D;D;D;D;D	0.67145	0.974;0.995;0.985;0.996;0.974	P;D;P;D;P	0.65874	0.548;0.939;0.735;0.931;0.649	T	0.62877	-0.6761	10	0.72032	D	0.01	.	1.3812	0.02230	0.132:0.2418:0.1362:0.4899	.	908;757;943;943;943	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	P	943;757;943;943;727;943	ENSP00000234040:T943P;ENSP00000441374:T757P;ENSP00000384016:T943P;ENSP00000351475:T943P;ENSP00000443083:T727P;ENSP00000384438:T943P	ENSP00000234040:T943P	T	-	1	0	PASK	241712114	0.658000	0.27402	0.021000	0.16686	0.917000	0.54804	0.753000	0.26376	-0.391000	0.07763	0.454000	0.30748	ACC			0.637	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000323753.1		NM_015148		G	242063441	T	G	242063441	3	3	116	1	0	0	0	0	1	0	0	0	11489	1667	58	4	1176	4	PASK	2	242063441	Missense_Mutation	SNP	T	TCGA-XE-AANV-01A-11D-A435-10	7517594	242063441	1135932	11	8679											
ITIH1	3697	broad.mit.edu	37	chr3	52825612	52825612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaagccagatgccacgatGgtggtgaggaaccgccggct	11	5	14	11	3	0	2	0	1	0	1	0	4	0	3	4	4	3	1	4	4	2	0			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr3:52825612G>T	ENST00000273283.2	+	21	2598	c.2574G>T	c.(2572-2574)atG>atT	p.M858I	ITIH1_ENST00000405128.3_Missense_Mutation_p.M224I|ITIH1_ENST00000537050.1_Missense_Mutation_p.M570I|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.M716I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	858	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)		ATGCCACGATGGTGGTGAGGA	0.582																																					p.M858I													.	ITIH1	108		0			c.G2574T												73	73	73					3																	52825612		2203	4300	6503	SO:0001583	missense	3697	exon21			CACGATGGTGGTG		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.2574G>T	3.37:g.52825612G>T	ENSP00000273283:p.Met858Ile		59	0.0169491525	1		54	0.06	3	NM_002215	0		0	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223417	0.95139	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.61	5.61	0.85477	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.042802	0.85682	D	0.000000	T	0.36496	0.0969	M	0.87617	2.895	0.53005	D	0.999965	B;B;P;P	0.43392	0.056;0.4;0.805;0.787	B;B;B;P	0.49683	0.037;0.189;0.364;0.619	T	0.23762	-1.0179	10	0.59425	D	0.04	-32.2762	19.2382	0.93871	0.0:0.0:1.0:0.0	.	716;224;459;858	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	I	858;716;570;411;224	ENSP00000273283:M858I;ENSP00000443973:M716I;ENSP00000443847:M570I;ENSP00000395836:M411I;ENSP00000384589:M224I	ENSP00000273283:M858I	M	+	3	0	ITIH1	52800652	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	7.011000	0.76359	2.640000	0.89533	0.591000	0.81541	ATG			0.582	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317522.1		NM_002215		T	52825612	G	T	52825612	3	4	116	1	0	0	0	0	1	0	0	0	7918	1348	47	3	2656	3	ITIH1	3	52825612	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		52825612	145196818	12	8680											
TMCC1	23023	broad.mit.edu	37	chr3	129370614	129370614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccatcttggagatgcGcgtctggcatgcctccaggg	6	9	13	13	2	2	1	0	0	2	1	4	2	4	1	3	3	3	2	3	3	0	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr3:129370614G>T	ENST00000393238.3	-	6	2012	c.1672C>A	c.(1672-1674)Cgc>Agc	p.R558S	TMCC1_ENST00000329333.5_Missense_Mutation_p.R379S|TMCC1_ENST00000426664.2_Missense_Mutation_p.R444S|TMCC1_ENST00000432054.2_Missense_Mutation_p.R234S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	558						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						TTGGAGATGCGCGTCTGGCAT	0.582																																					p.R558S													.	TMCC1	105		0			c.C1672A												64	63	63					3																	129370614		2203	4300	6503	SO:0001583	missense	23023	exon6			AGATGCGCGTCTG	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.1672C>A	3.37:g.129370614G>T	ENSP00000376930:p.Arg558Ser		79	0	0		78	0.05	4	NM_001017395	36	0	0	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703717	0.48412	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.16	5.16	0.70880	.	0.051157	0.85682	D	0.000000	T	0.79009	0.4374	M	0.89095	3.005	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.993	T	0.81297	-0.0996	10	0.51188	T	0.08	-7.1955	14.5535	0.68084	0.0:0.0:0.8533:0.1467	.	379;558	B4DE04;O94876	.;TMCC1_HUMAN	S	234;558;444;379	ENSP00000404711:R234S;ENSP00000376930:R558S;ENSP00000389892:R444S;ENSP00000327349:R379S	ENSP00000327349:R379S	R	-	1	0	TMCC1	130853304	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	3.478000	0.53158	2.689000	0.91719	0.655000	0.94253	CGC			0.582	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356418.2		NM_015008		T	129370614	G	T	129370614	3	4	116	1	0	0	0	0	1	0	0	0	16015	1087	38	1	293	1	TMCC1	3	129370614	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	76545002	129370614	68651816	13	8681											
DGKQ	1609	mdanderson.org	37	chr4	961354	961354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagcacctcctcggcacCggccaggcgggacaccgtga	8	4	12	17	4	0	1	0	1	0	0	2	2	1	2	6	4	2	2	6	4	1	1	rs529521985		TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr4:961354C>T	ENST00000273814.3	-	8	1043	c.970G>A	c.(970-972)Ggt>Agt	p.G324S	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	324					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)			TCCTCGGCACCGGCCAGGCGG	0.677													c|||	1	0.000199681	0	0	5008	,	,		10574	0		0	False		,,,				2504	0.001				p.G324S	Esophageal Squamous(17;537 645 4447 26373)												.	.			0			c.G970A												48	47	47					4																	961354		2201	4300	6501	SO:0001583	missense	1609	exon8			CGGCACCGGCCAG	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.970G>A	4.37:g.961354C>T	ENSP00000273814:p.Gly324Ser		92	0	0		52	0.06	3	NM_001347	10	0	0	Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	c	0.179	-1.063737	0.01934	.	.	ENSG00000145214	ENST00000273814	T	0.78481	-1.18	4.97	-9.95	0.00446	.	0.350344	0.27429	N	0.019405	T	0.42381	0.1200	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.51702	-0.8672	10	0.05959	T	0.93	.	13.7051	0.62633	0.0:0.0805:0.7425:0.177	.	324;324	E9KL49;P52824	.;DGKQ_HUMAN	S	324	ENSP00000273814:G324S	ENSP00000273814:G324S	G	-	1	0	DGKQ	951354	0.000000	0.05858	0.018000	0.16275	0.002000	0.02628	-1.252000	0.02880	-1.310000	0.02312	-1.525000	0.00928	GGT			0.677	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000200888.1				T	961354	C	T	961354	3	4	116	1	0	0	0	0	1	0	0	0	4478	652	23	1	1922	1	DGKQ	4	961354	Missense_Mutation	SNP	C	TCGA-XE-AANV-01A-11D-A435-10		961354	190192922	14	8682											
ATP10D	57205	mdanderson.org	37	chr4	47563065	47563065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactacttgaatctgccatgAggttggagaacaaacttaca	14	11	8	8	0	1	3	0	2	1	1	1	4	1	3	1	2	6	1	1	2	6	5			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr4:47563065A>G	ENST00000273859.3	+	14	2910	c.2641A>G	c.(2641-2643)Agg>Ggg	p.R881G	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	881					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATCTGCCATGAGGTTGGAGAA	0.378																																					p.R881G													.	.			0			c.A2641G												169	159	162					4																	47563065		2203	4300	6503	SO:0001583	missense	57205	exon14			GCCATGAGGTTGG	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2641A>G	4.37:g.47563065A>G	ENSP00000273859:p.Arg881Gly		96	0	0		61	0.05	3	NM_020453	6	0	0	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953529	0.73902	.	.	ENSG00000145246	ENST00000273859	T	0.39592	1.07	5.11	3.91	0.45181	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.048098	0.85682	D	0.000000	T	0.60117	0.2244	M	0.77712	2.385	0.80722	D	1	D	0.56035	0.974	D	0.63033	0.91	T	0.60265	-0.7297	10	0.40728	T	0.16	-11.7337	11.5056	0.50463	0.8497:0.1503:0.0:0.0	.	881	Q9P241	AT10D_HUMAN	G	881	ENSP00000273859:R881G	ENSP00000273859:R881G	R	+	1	2	ATP10D	47257822	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	2.695000	0.47043	0.949000	0.37715	0.533000	0.62120	AGG			0.378	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216900.1		NM_020453		G	47563065	A	G	47563065	3	3	116	1	0	0	0	0	1	0	0	0	1118	295	11	4	2691	4	ATP10D	4	47563065	Missense_Mutation	SNP	A	TCGA-XE-AANV-01A-11D-A435-10	46601711	47563065	143591211	15	8683											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55593667	55593667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacccaacacaacttccttAtgatcacaaatgggagtttc	14	10	6	11	0	1	2	1	1	0	1	3	3	2	3	2	1	2	1	2	1	4	3			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr4:55593667A>G	ENST00000288135.5	+	11	1830	c.1733A>G	c.(1732-1734)tAt>tGt	p.Y578C		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	578					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N564_Y578del(2)|p.P577_Y578del(1)|p.I571_N587del(1)|p.P577_D579del(1)|p.D579del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAACTTCCTTATGATCACAAA	0.413		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.Y578C			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	.	.			6	Deletion - In frame(6)	soft_tissue(5)|thymus(1)	c.A1733G												72	71	72					4																	55593667		2203	4300	6503	SO:0001583	missense	3815	exon11	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	TTCCTTATGATCA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1733A>G	4.37:g.55593667A>G	ENSP00000288135:p.Tyr578Cys		137	0	0		89	0.28	25	NM_000222	223	0.64	143	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312811	0.81358	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.95724	-3.79;-3.79	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000028	D	0.97776	0.9270	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.974;0.995;0.967	D	0.98487	1.0608	10	0.87932	D	0	.	16.6003	0.84812	1.0:0.0:0.0:0.0	.	85;574;578	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	C	578;574	ENSP00000288135:Y578C;ENSP00000390987:Y574C	ENSP00000288135:Y578C	Y	+	2	0	KIT	55288424	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.150000	0.94667	2.319000	0.78375	0.533000	0.62120	TAT			0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				G	55593667	A	G	55593667	3	3	116	1	0	0	0	0	1	0	0	0	8344	449	16	4	1775	4	KIT	4	55593667	Missense_Mutation	SNP	A	TCGA-XE-AANV-01A-11D-A435-10	8030602	55593667	135560609	16	8684											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599348	55599348	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgattctaattatgtggTtaaaggaaacgtgagtaccc	14	12	10	5	1	1	2	0	2	1	0	1	4	1	3	1	2	2	2	1	2	7	5	rs121913524		TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr4:55599348T>A	ENST00000288135.5	+	17	2571	c.2474T>A	c.(2473-2475)gTt>gAt	p.V825D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V825A(27)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATTATGTGGTTAAAGGAAAC	0.373		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.V825D			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,lymphoid_neoplasm,0,31	KIT	0	31	27	Substitution - Missense(27)	haematopoietic_and_lymphoid_tissue(27)	c.T2474A												150	153	152					4																	55599348		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	ATGTGGTTAAAGG	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2474T>A	4.37:g.55599348T>A	ENSP00000288135:p.Val825Asp		90	0	0		51	0.33	17	NM_000222	338	0.51	172	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428803	0.83667	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82619	-1.63;-1.63	5.47	5.47	0.80525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000093	D	0.86397	0.5923	L	0.31065	0.9	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.951;0.999	D	0.88285	0.2939	10	0.87932	D	0	.	15.5485	0.76129	0.0:0.0:0.0:1.0	.	821;825	P10721-2;P10721	.;KIT_HUMAN	D	825;821	ENSP00000288135:V825D;ENSP00000390987:V821D	ENSP00000288135:V825D	V	+	2	0	KIT	55294105	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.130000	0.71663	2.084000	0.62774	0.477000	0.44152	GTT			0.373	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				A	55599348	T	A	55599348	3	1	116	1	0	0	0	0	1	0	0	0	8344	1725	60	5	2540	5	KIT	4	55599348	Missense_Mutation	SNP	T	TCGA-XE-AANV-01A-11D-A435-10	5681	55599348	135554928	17	8685											
EIF4E	1977	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	99812429	99812429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacttggagatcagccgCaggtttgcttgccaagtttt	9	13	10	9	1	2	1	2	0	0	1	2	2	2	1	2	2	4	4	2	2	2	5			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr4:99812429C>T	ENST00000450253.2	-	3	1704	c.180G>A	c.(178-180)ctG>ctA	p.L60L	EIF4E_ENST00000280892.6_Silent_p.L80L|EIF4E_ENST00000504432.1_Silent_p.L88L|EIF4E_ENST00000505992.1_Silent_p.L60L	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	60					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AGATCAGCCGCAGGTTTGCTT	0.333																																					p.L80L													.	.			0			c.G240A												72	73	73					4																	99812429		2203	4300	6503	SO:0001819	synonymous_variant	1977	exon3			CAGCCGCAGGTTT	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.180G>A	4.37:g.99812429C>T			333	0	0		230	0.19	43	NM_001130678	164	0.41	67	B7Z6V1|D6RCQ6|Q96E95	Silent	SNP	ENST00000450253.2	37	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	C	8.630	0.893528	0.17613	.	.	ENSG00000151247	ENST00000511644	.	.	.	5.21	-2.34	0.06704	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30822	-0.9965	4	.	.	.	-16.2618	2.4992	0.04629	0.4595:0.2447:0.0665:0.2293	.	.	.	.	T	57	.	.	A	-	1	0	EIF4E	100031452	0.996000	0.38824	0.990000	0.47175	0.975000	0.68041	0.582000	0.23834	-0.189000	0.10482	-1.500000	0.00958	GCG			0.333	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000363739.1		NM_001968		T	99812429	C	T	99812429	2	4	116	1	0	0	0	0	0	0	0	1	5035	697	25	2		2	EIF4E	4	99812429	Silent	SNP	C	TCGA-XE-AANV-01A-11D-A435-10	44213081	99812429	91341847	18	8686											
PALLD	23022	broad.mit.edu	37	chr4	169632923	169632923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcaaatgcaattcaatGctgctgagagggaaacgaac	14	8	9	10	1	2	1	2	1	0	1	2	4	2	2	1	1	5	3	1	1	5	2			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr4:169632923G>T	ENST00000505667.1	+	10	1986	c.1813G>T	c.(1813-1815)Gct>Tct	p.A605S	PALLD_ENST00000512127.1_Missense_Mutation_p.A223S|PALLD_ENST00000261509.6_Missense_Mutation_p.A605S|PALLD_ENST00000335742.7_Missense_Mutation_p.A223S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	605					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCAATTCAATGCTGCTGAGAG	0.483									Pancreatic Cancer, Familial Clustering of																												p.A605S	Esophageal Squamous(109;1482 1532 18347 40239 51172)												PALLD_ENST00000335742,NS,carcinoma,-1,2	PALLD	179	2	0			c.G1813T												84	79	81					4																	169632923		2203	4300	6503	SO:0001583	missense	23022	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	TTCAATGCTGCTG	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1813G>T	4.37:g.169632923G>T	ENSP00000425556:p.Ala605Ser		162	0.0061728395	1		145	0.03	5	NM_001166108	5	0	0	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150479	0.00328	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127	T;T;T;T	0.60424	0.2;0.19;0.47;0.21	5.81	0.466	0.16716	.	0.598230	0.12595	N	0.455203	T	0.15869	0.0382	N	0.00677	-1.265	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	0.26155	-1.0111	10	0.05436	T	0.98	.	0.8911	0.01254	0.2205:0.1854:0.1163:0.4778	.	605;223;605	B7ZMM5;B3KTG2;B2RTX2	.;.;.	S	605;223;605;223	ENSP00000261509:A605S;ENSP00000336735:A223S;ENSP00000425556:A605S;ENSP00000426947:A223S	ENSP00000261509:A605S	A	+	1	0	PALLD	169869498	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	0.283000	0.18846	-0.112000	0.11979	-1.785000	0.00643	GCT			0.483	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000363762.1		NM_016081		T	169632923	G	T	169632923	3	4	116	1	0	0	0	0	1	0	0	0	11424	1319	46	2	1847	2	PALLD	4	169632923	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	69820494	169632923	21521353	19	8687											
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	89949379	89949379	+	Frame_Shift_Del	DEL	T	T	-																															gtggaacggatgctttgtacTttaccggactagagggtgca																										TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr5:89949379delT	ENST00000405460.2	+	20	4084	c.3988delT	c.(3988-3990)tttfs	p.F1330fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1330					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)		TGCTTTGTACTTTACCGGACT	0.453																																					p.Y1329fs													.	GPR98	605		0			c.3987delC												121	112	115					5																	89949379		1954	4137	6091	SO:0001589	frameshift_variant	84059	exon20			TTGTACTTTACCG	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.3988delT	5.37:g.89949379delT	ENSP00000384582:p.Phe1330fs		158	0	0		154	0.17	26	NM_032119	2	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	ENST00000405460.2	37	CCDS47246.1																																																																																					0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369993.2		NM_032119		-	89949379	T	-	89949379	7	5	116	1	0	1	0	1	0	0	0	0	6736	1609	56	0	4066	0	GPR98	5	89949379	Frame_Shift_Del	DEL	T	TCGA-XE-AANV-01A-11D-A435-10		89949379	90965881	20	8688											
PWWP2A	114825	mdanderson.org	37	chr5	159546149	159546149	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccggccccaccgcctCtgggctgcgggcgagctccc	3	5	13	20	4	1	0	0	0	1	0	3	1	3	0	6	3	3	3	6	3	0	0			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr5:159546149C>A	ENST00000307063.7	-	1	281	c.247G>T	c.(247-249)Gag>Tag	p.E83*	PWWP2A_ENST00000456329.3_Nonsense_Mutation_p.E83*|PWWP2A_ENST00000523662.1_Nonsense_Mutation_p.E83*	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	83	Pro-rich.									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)			CCCACCGCCTCTGGGCTGCGG	0.751																																					p.E83X													.	.			0			c.G247T												15	17	17					5																	159546149		1361	3149	4510	SO:0001587	stop_gained	114825	exon1			CCGCCTCTGGGCT		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.247G>T	5.37:g.159546149C>A	ENSP00000305151:p.Glu83*		8	0	0		12	0.25	3	NM_052927	8	0	0	G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Nonsense_Mutation	SNP	ENST00000307063.7	37	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	c	34	5.393284	0.96009	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	.	.	.	3.65	2.78	0.32641	.	0.158907	0.24422	U	0.038671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-8.4941	6.6968	0.23203	0.0:0.8692:0.0:0.1308	.	.	.	.	X	83	.	ENSP00000305151:E83X	E	-	1	0	PWWP2A	159478727	0.299000	0.24426	0.994000	0.49952	0.876000	0.50452	2.023000	0.41040	0.751000	0.32900	0.543000	0.68304	GAG			0.751	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374092.1				A	159546149	C	A	159546149	4	1	116	1	0	0	0	0	0	1	0	0	12868	922	32	3	2170	3	PWWP2A	5	159546149	Nonsense_Mutation	SNP	C	TCGA-XE-AANV-01A-11D-A435-10	69596770	159546149	21369111	21	8689											
CPLX2	10814	broad.mit.edu	37	chr5	175306867	175306869	+	In_Frame_Del	DEL	AGG	AGG	-																															ccagtatgggctgaagaagaAggaggagaaggaagcagagg																										TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr5:175306867_175306869delAGG	ENST00000359546.4	+	5	867_869	c.224_226delAGG	c.(223-228)aaggag>aag	p.E77del	CPLX2_ENST00000393745.3_In_Frame_Del_p.E77del|CPLX2_ENST00000515094.1_In_Frame_Del_p.E77del	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	77	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	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)			CTGAAGAAGAAGGAGGAGAAGGA	0.645																																					p.75_76del													.	CPLX2	42		0			c.224_226del																																									SO:0001651	inframe_deletion	10814	exon5			AGAAGAAGGAGGA	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.224_226delAGG	5.37:g.175306870_175306872delAGG	ENSP00000352544:p.Glu77del		144	0	0		129	0.07	9	NM_006650	0		0	B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	In_Frame_Del	DEL	ENST00000359546.4	37	CCDS4396.1																																																																																					0.645	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253157.2				-	175306869	AGG	-	175306867	7	5	116	1	0	1	0	1	0	0	0	0	3807	72	3	0	234	0	CPLX2	5	175306867	In_Frame_Del	DEL	AGG	TCGA-XE-AANV-01A-11D-A435-10	15760718	175306867	5608393	22	8690											
CLIC1	1192	mdanderson.org	37	chr6	31702039	31702039	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggccccatcactgccaGcctgaaaagtaaccccaacc	11	7	6	17	0	2	1	1	1	1	0	2	1	2	1	7	1	4	1	7	1	4	2			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr6:31702039G>A	ENST00000375780.2	-	3	613	c.41C>T	c.(40-42)gCt>gTt	p.A14V	CLIC1_ENST00000375779.2_Splice_Site_p.A14V|CLIC1_ENST00000375784.3_Splice_Site_p.A14V|CLIC1_ENST00000395892.1_Splice_Site_p.A14V			O00299	CLIC1_HUMAN	chloride intracellular channel 1	14	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						ATCACTGCCAGCCTGAAAAGT	0.547																																					p.A14V													.	.			0			c.C41T												76	60	65					6																	31702039		2203	4300	6503	SO:0001630	splice_region_variant	1192	exon2			CTGCCAGCCTGAA	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"Ion channels / Chloride channels : Intracellular"	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.40-1C>T	6.37:g.31702039G>A			75	0	0		45	0.07	3	NM_001288	493	0	0	Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714018	0.89112	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.4	5.4	0.78164	Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000001	T	0.52500	0.1738	H	0.96691	3.865	0.80722	D	1	P	0.48911	0.917	B	0.35240	0.198	T	0.73726	-0.3892	10	0.72032	D	0.01	-8.7081	16.777	0.85553	0.0:0.0:1.0:0.0	.	14	O00299	CLIC1_HUMAN	V	14	ENSP00000364940:A14V;ENSP00000364934:A14V;ENSP00000364935:A14V;ENSP00000379229:A14V	ENSP00000364934:A14V	A	-	2	0	CLIC1	31810018	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.164000	0.94755	2.831000	0.97527	0.585000	0.79938	GCT			0.547	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076167.3		NM_001288	Missense_Mutation	A	31702039	G	A	31702039	5	1	116	1	0	0	0	0	0	0	1	0	3527	985	34	2	704	2	CLIC1	6	31702039	Splice_Site	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		31702039	139413028	23	8691											
ANKS1A	23294	hgsc.bcm.edu	37	chr6	34857324	34857324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcagcggcGgcggcggcggcggcctcggc	1	1	24	15	11	0	0	0	0	0	0	1	0	0	0	1	11	1	1	1	11	0	0			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr6:34857324G>A	ENST00000360359.3	+	1	283	c.145G>A	c.(145-147)Ggc>Agc	p.G49S	TAF11_ENST00000361288.4_5'Flank|TAF11_ENST00000420584.2_5'Flank|ANKS1A_ENST00000535627.1_Missense_Mutation_p.G49S	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	49	Gly-rich.				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						cggcagcggcggcggcggcgg	0.771																																					p.G49S													ANKS1A,NS,carcinoma,0,1	ANKS1A	0	1	0			c.G145A												2	2	2					6																	34857324		382	1194	1576	SO:0001583	missense	23294	exon1			AGCGGCGGCGGCG	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.145G>A	6.37:g.34857324G>A	ENSP00000353518:p.Gly49Ser		6	0.1666666667	1		6	0.5	3	NM_015245	3	0	0	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008376	0.54361	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;D	0.98649	1.19;-5.05	4.58	1.53	0.23141	Ankyrin repeat-containing domain (1);	1.264600	0.06451	N	0.727796	D	0.90783	0.7106	N	0.19112	0.55	0.25322	N	0.989108	P;B	0.49090	0.919;0.003	B;B	0.38655	0.278;0.002	D	0.88474	0.3064	10	0.17832	T	0.49	-4.009	8.7007	0.34323	0.0795:0.0:0.6816:0.2389	.	49;49	B4DQW8;Q92625	.;ANS1A_HUMAN	S	49	ENSP00000353518:G49S;ENSP00000438752:G49S	ENSP00000353518:G49S	G	+	1	0	ANKS1A	34965302	1.000000	0.71417	0.794000	0.32065	0.327000	0.28475	2.586000	0.46119	0.389000	0.25086	0.471000	0.43371	GGC			0.771	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040262.1		XM_166478		A	34857324	G	A	34857324	3	1	116	1	0	0	0	0	1	0	0	0	688	1116	39	1	147	1	ANKS1A	6	34857324	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	3155285	34857324	136257743	24	8692											
FOXK1	221937	mdanderson.org	37	chr7	4799057	4799057	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaacctcacagcagcccgcGggccacgccatccacgtcgt	8	5	10	18	5	1	0	1	0	0	0	3	0	2	0	5	1	3	2	5	1	1	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr7:4799057G>T	ENST00000328914.4	+	7	1527	c.1527G>T	c.(1525-1527)gcG>gcT	p.A509A	FOXK1_ENST00000446823.1_Silent_p.A346A	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCAGCCCGCGGGCCACGCCA	0.672																																					p.A509A													.	.			0			c.G1527T												31	25	27					7																	4799057		2197	4290	6487	SO:0001819	synonymous_variant	221937	exon7			GCCCGCGGGCCAC	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1527G>T	7.37:g.4799057G>T			30	0	0		19	0.11	2	NM_001037165	16	0	0		Silent	SNP	ENST00000328914.4	37	CCDS34591.1																																																																																					0.672	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323729.2				T	4799057	G	T	4799057	2	4	116	1	0	0	0	0	0	0	0	1	6027	1103	39	1		1	FOXK1	7	4799057	Silent	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		4799057	154339606	25	8693											
RAC1	5879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	6426908	6426908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctggagaatatatccCtactgtgtaagtatcttaaa	13	15	6	7	0	1	1	0	0	1	1	3	2	3	1	2	1	1	2	2	1	8	7			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr7:6426908C>G	ENST00000348035.4	+	2	314	c.101C>G	c.(100-102)cCt>cGt	p.P34R	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P34R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	34					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAATATATCCCTACTGTGTAA	0.363																																					p.P34R													.	.			0			c.C101G												103	102	103					7																	6426908		2203	4298	6501	SO:0001583	missense	5879	exon2			ATATCCCTACTGT	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.101C>G	7.37:g.6426908C>G	ENSP00000258737:p.Pro34Arg		127	0	0		142	0.13	18	NM_006908	59	0.17	10	O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921361	0.92249	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.73789	-0.78;-0.78	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95425	0.8511	10	0.87932	D	0	.	20.2312	0.98350	0.0:1.0:0.0:0.0	.	34;34	P63000;A4D2P0	RAC1_HUMAN;.	R	34	ENSP00000258737:P34R;ENSP00000348461:P34R	ENSP00000258737:P34R	P	+	2	0	RAC1	6393433	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.622000	0.83099	2.882000	0.98803	0.655000	0.94253	CCT			0.363	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000242868.2		NM_018890		G	6426908	C	G	6426908	3	3	116	1	0	0	0	0	1	0	0	0	12997	681	24	5	107	5	RAC1	7	6426908	Missense_Mutation	SNP	C	TCGA-XE-AANV-01A-11D-A435-10	1627851	6426908	152711755	26	8694											
LRCH4	4034	broad.mit.edu	37	chr7	100183685	100183685	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtggctgccgcctcctcAcccccggcggcgagtggagc	3	6	15	17	5	1	0	1	0	0	0	3	2	2	1	5	4	2	1	5	4	0	0			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr7:100183685A>C	ENST00000310300.6	-	1	91	c.39T>G	c.(37-39)ggT>ggG	p.G13G	FBXO24_ENST00000498195.1_Intron|FBXO24_ENST00000241071.6_5'Flank|FBXO24_ENST00000360609.2_5'Flank|LRCH4_ENST00000497245.1_5'Flank|FBXO24_ENST00000465843.1_5'Flank	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	13					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGCCTCCTCACCCCCGGCGG	0.771																																					p.G13G													.	LRCH4	53		0			c.T39G												4	5	5					7																	100183685		1955	3870	5825	SO:0001819	synonymous_variant	4034	exon1			CTCCTCACCCCCG	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.39T>G	7.37:g.100183685A>C			77	0.3116883117	24		102	0.3	31	NM_002319	94	0.06	6	A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	CCDS34706.1																																																																																					0.771	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356110.1		NM_002319		C	100183685	A	C	100183685	2	2	116	1	0	0	0	0	0	0	0	1	8951	146	6	4		4	LRCH4	7	100183685	Silent	SNP	A	TCGA-XE-AANV-01A-11D-A435-10	93756777	100183685	58954978	27	8695											
MLL3	58508	bcgsc.ca	37	chr7	151945089	151945089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtaagttgttggcatgatGtttccagcagaggaactaag	12	12	12	5	0	0	2	0	1	0	1	1	3	1	3	1	2	2	6	1	2	3	5			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr7:151945089G>A	ENST00000262189.6	-	14	2648	c.2430C>T	c.(2428-2430)aaC>aaT	p.N810N	KMT2C_ENST00000355193.2_Silent_p.N810N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	810					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)										TTGGCATGATGTTTCCAGCAG	0.453																																					p.N810N													.	MLL3	1564		0			c.C2430T												447	398	415					7																	151945089		2203	4300	6503	SO:0001819	synonymous_variant	58508	exon14			CATGATGTTTCCA	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.2430C>T	7.37:g.151945089G>A			400	0.0175	7		489	0.04	19	NM_170606	15	0.07	1	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874782	0.17395	.	.	ENSG00000055609	ENST00000418673	.	.	.	5.57	0.677	0.17964	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.41253	D	0.98672	.	.	.	.	.	.	T	0.48714	-0.9011	4	.	.	.	.	8.0792	0.30735	0.5456:0.0:0.4544:0.0	.	.	.	.	Y	6	.	.	H	-	1	0	MLL3	151576022	0.460000	0.25776	0.882000	0.34594	0.867000	0.49689	0.666000	0.25097	0.310000	0.22990	0.650000	0.86243	CAT			0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3	rescued with RNA-seq			A	151945089	G	A	151945089	2	1	116	1	0	0	0	0	0	0	0	1	9638	1368	48	3		3	MLL3	7	151945089	Silent	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	51761404	151945089	7193574	28	8696											
UNC5D	137970	mdanderson.org	37	chr8	35453077	35453077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcttctttgcagatttaCggaaaaactttgaacaagac	14	12	7	8	1	1	3	0	1	1	2	1	4	1	4	0	1	5	2	0	1	5	5			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr8:35453077C>T	ENST00000404895.2	+	4	800	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	UNC5D_ENST00000420357.1_Missense_Mutation_p.R158W|UNC5D_ENST00000287272.2_Missense_Mutation_p.R158W|UNC5D_ENST00000416672.1_Missense_Mutation_p.R158W|UNC5D_ENST00000453357.2_Missense_Mutation_p.R153W	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	158	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCAGATTTACGGAAAAACTT	0.438																																					p.R158W													.	.			0			c.C472T												139	134	136					8																	35453077		2203	4300	6503	SO:0001583	missense	137970	exon4			GATTTACGGAAAA	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.472C>T	8.37:g.35453077C>T	ENSP00000385143:p.Arg158Trp		54	0	0		50	0.06	3	NM_080872	0		0	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921222	0.73213	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.57752	0.4;0.89;0.89;0.4;0.38	5.93	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.986	D	0.85360	0.1107	10	0.87932	D	0	-20.1685	13.8026	0.63212	0.3824:0.6176:0.0:0.0	.	153;158	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	W	158;158;158;158;153	ENSP00000385143:R158W;ENSP00000392739:R158W;ENSP00000287272:R158W;ENSP00000412652:R158W;ENSP00000394303:R153W	ENSP00000287272:R158W	R	+	1	2	UNC5D	35572619	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.401000	0.34589	1.504000	0.48704	0.591000	0.81541	CGG			0.438	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000347586.2				T	35453077	C	T	35453077	3	4	116	1	0	0	0	0	1	0	0	0	17019	527	19	1	486	1	UNC5D	8	35453077	Missense_Mutation	SNP	C	TCGA-XE-AANV-01A-11D-A435-10		35453077	110910945	29	8697											
ADAMTSL1	92949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	18892551	18892551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggacacccaggcctgtaAccagcagctgtgtgtggagt	8	9	14	10	0	0	0	0	0	0	0	0	2	0	2	3	3	3	3	3	3	1	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr9:18892551A>G	ENST00000380548.4	+	26	5147	c.4808A>G	c.(4807-4809)aAc>aGc	p.N1603S	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.N304S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1603	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAGGCCTGTAACCAGCAGCTG	0.567																																					p.N1603S													.	.			0			c.A4808G												12	15	14					9																	18892551		1974	4144	6118	SO:0001583	missense	92949	exon26			CCTGTAACCAGCA	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4808A>G	9.37:g.18892551A>G	ENSP00000369921:p.Asn1603Ser		67	0	0		61	0.18	11	NM_001040272	1	0	0	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	7.580	0.668607	0.14776	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.52295	0.67;0.67	5.31	5.31	0.75309	.	0.172300	0.50627	N	0.000113	T	0.28433	0.0703	N	0.20845	0.615	0.46954	D	0.999264	P;B	0.47545	0.897;0.119	B;B	0.38327	0.271;0.078	T	0.05733	-1.0867	10	0.23891	T	0.37	.	9.7411	0.40418	0.9228:0.0:0.0772:0.0	.	304;1603	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	S	1603;304;307	ENSP00000369921:N1603S;ENSP00000369918:N304S	ENSP00000325584:N307S	N	+	2	0	ADAMTSL1	18882551	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.231000	0.58639	2.012000	0.59069	0.454000	0.30748	AAC			0.567	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401206.1				G	18892551	A	G	18892551	3	3	116	1	0	0	0	0	1	0	0	0	274	43	2	4	4914	4	ADAMTSL1	9	18892551	Missense_Mutation	SNP	A	TCGA-XE-AANV-01A-11D-A435-10		18892551	122320880	30	8698											
BICD2	23299	mdanderson.org	37	chr9	95481138	95481138	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtcccaccatctgctcGgcccgcctcaggagccagca	6	5	9	21	3	2	0	1	0	1	0	4	1	3	1	7	2	3	2	7	2	0	0			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr9:95481138G>T	ENST00000375512.3	-	5	1856	c.1789C>A	c.(1789-1791)Cga>Aga	p.R597R	BICD2_ENST00000356884.6_Silent_p.R597R	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	597					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATCTGCTCGGCCCGCCTCA	0.721																																					p.R597R													.	.			0			c.C1789A												11	12	12					9																	95481138		2184	4282	6466	SO:0001819	synonymous_variant	23299	exon5			CTGCTCGGCCCGC	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1789C>A	9.37:g.95481138G>T			48	0	0		50	0.06	3	NM_001003800	25	0	0	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	ENST00000375512.3	37	CCDS6700.1																																																																																					0.721	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000055508.1		NM_015250		T	95481138	G	T	95481138	2	4	116	1	0	0	0	0	0	0	0	1	1429	1124	39	1		1	BICD2	9	95481138	Silent	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	76588587	95481138	45732293	31	8699											
C9orf91	203197	broad.mit.edu	37	chr9	117379536	117379536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgcccccctcctcccctGgctggagtgccctgcctgga	3	9	10	19	0	0	0	0	0	0	0	2	2	2	2	8	3	3	1	8	3	0	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr9:117379536G>T	ENST00000288502.4	+	2	498	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	C9orf91_ENST00000471206.1_3'UTR|Y_RNA_ENST00000364879.1_RNA|C9orf91_ENST00000374049.4_Missense_Mutation_p.G21C|AL160275.1_ENST00000606438.1_RNA			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	21						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						CTCCTCCCCTGGCTGGAGTGC	0.612																																					p.G21C													.	C9orf91	32		0			c.G61T												29	34	32					9																	117379536		2203	4300	6503	SO:0001583	missense	203197	exon2			TCCCCTGGCTGGA	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.61G>T	9.37:g.117379536G>T	ENSP00000288502:p.Gly21Cys		292	0.0034246575	1		305	0.02	5	NM_153045	12	0	0	A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562114	0.27915	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	4.26	0.445	0.16597	.	0.469841	0.21777	N	0.069275	T	0.37073	0.0990	L	0.36672	1.1	0.21147	N	0.999778	D	0.56746	0.977	P	0.57548	0.823	T	0.14783	-1.0460	9	0.56958	D	0.05	0.0283	6.4935	0.22130	0.4067:0.0:0.5933:0.0	.	21	Q5VZI3	CI091_HUMAN	C	21	.	ENSP00000288502:G21C	G	+	1	0	C9orf91	116419357	0.650000	0.27331	0.112000	0.21494	0.023000	0.10783	0.640000	0.24705	0.078000	0.16900	0.555000	0.69702	GGC			0.612	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000053780.1		NM_153045		T	117379536	G	T	117379536	3	4	116	1	0	0	0	0	1	0	0	0	2507	1348	47	3	63	3	C9orf91	9	117379536	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	21898398	117379536	23833895	32	8700											
KIAA0649	9858	ucsc.edu	37	chr9	138376590	138376590	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccacagggcagagggatgCcacgacgccaggccggctgc	8	2	17	14	3	0	1	0	0	0	1	0	3	0	2	4	5	2	2	4	5	0	0			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr9:138376590C>A	ENST00000356818.2	+	4	783	c.234C>A	c.(232-234)tgC>tgA	p.C78*	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.C78*|PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.C78*|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.C78*|PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.C78*	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	78					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGAGGGATGCCACGACGCCA	0.687																																					p.C78X													.	.			0			c.C234A												24	29	28					9																	138376590		2199	4286	6485	SO:0001587	stop_gained	9858	exon4			GGGATGCCACGAC	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.234C>A	9.37:g.138376590C>A	ENSP00000349274:p.Cys78*		34	0	0		29	0.14	4	NM_014811	36	0	0	Q86WU0|Q8WVV0|Q9Y4D3	Nonsense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407405	0.62399	.	.	ENSG00000196422	ENST00000356818;ENST00000401470	.	.	.	4.19	1.21	0.21127	.	0.732661	0.12785	N	0.439314	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-8.1175	4.9692	0.14105	0.0:0.5864:0.1541:0.2595	.	.	.	.	X	78	.	ENSP00000349274:C78X	C	+	3	2	KIAA0649	137516411	0.065000	0.20965	0.002000	0.10522	0.015000	0.08874	2.037000	0.41174	0.127000	0.18452	-0.136000	0.14681	TGC			0.687	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054987.1		NM_014811		A	138376590	C	A	138376590	4	1	116	1	0	0	0	0	0	1	0	0	8202	747	26	2	236	2	KIAA0649	9	138376590	Nonsense_Mutation	SNP	C	TCGA-XE-AANV-01A-11D-A435-10	20997054	138376590	2836841	33	8701											
ITIH5	80760	mdanderson.org	37	chr10	7618461	7618461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctgcaccaccggttcggGtcccatggcagccgacatgc	6	7	12	16	3	1	0	0	0	1	0	3	1	2	0	4	3	3	4	4	3	0	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr10:7618461G>T	ENST00000256861.6	-	10	2011	c.1933C>A	c.(1933-1935)Ccc>Acc	p.P645T	ITIH5_ENST00000446830.2_Missense_Mutation_p.P427T|ITIH5_ENST00000397146.2_Missense_Mutation_p.P645T|ITIH5_ENST00000298441.6_Missense_Mutation_p.P431T|ITIH5_ENST00000397145.2_Missense_Mutation_p.P645T|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	645					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACCGGTTCGGGTCCCATGGCA	0.677																																					p.P645T													.	.			0			c.C1933A												21	22	22					10																	7618461		2200	4297	6497	SO:0001583	missense	80760	exon10			GTTCGGGTCCCAT			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1933C>A	10.37:g.7618461G>T	ENSP00000256861:p.Pro645Thr		51	0	0		33	0.09	3	NM_001001851	8	0	0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	12.76	2.033175	0.35893	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.03468	3.92;3.92;3.92;3.92;3.92	5.33	5.33	0.75918	.	0.310779	0.35179	N	0.003387	T	0.04092	0.0114	.	.	.	0.09310	N	1	B;P;B	0.50617	0.232;0.937;0.256	B;B;B	0.42851	0.113;0.4;0.069	T	0.46414	-0.9193	9	0.35671	T	0.21	-22.4613	9.4549	0.38750	0.1012:0.0:0.8988:0.0	.	645;645;431	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	T	645;645;431;427;645	ENSP00000256861:P645T;ENSP00000380333:P645T;ENSP00000298441:P431T;ENSP00000387969:P427T;ENSP00000380332:P645T	ENSP00000256861:P645T	P	-	1	0	ITIH5	7658467	0.928000	0.31464	0.131000	0.22000	0.045000	0.14185	2.099000	0.41767	2.474000	0.83562	0.561000	0.74099	CCC			0.677	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000046688.1		NM_030569		T	7618461	G	T	7618461	3	4	116	1	0	0	0	0	1	0	0	0	7922	1261	44	3	1038	3	ITIH5	10	7618461	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		7618461	127916286	34	8702											
GATA3	2625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	8115773	8115773	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgtctagcaaatccaaAaagtgcaaaaaagtgcatga	21	7	7	6	0	1	1	0	1	1	0	2	1	2	1	1	0	3	3	1	0	9	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr10:8115773A>C	ENST00000346208.3	+	6	1574	c.1119A>C	c.(1117-1119)aaA>aaC	p.K373N	GATA3_ENST00000379328.3_Missense_Mutation_p.K374N|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	373					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|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)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCAAATCCAAAAAGTGCAAAA	0.438			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																														p.K374N				Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	.			0			c.A1122C												68	73	71					10																	8115773		2203	4300	6503	SO:0001583	missense	2625	exon6			ATCCAAAAAGTGC	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1119A>C	10.37:g.8115773A>C	ENSP00000341619:p.Lys373Asn		114	0	0		129	0.21	27	NM_001002295	11	0	0	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.692140	0.48202	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.97404	-4.37;-4.35	5.26	5.26	0.73747	.	0.147064	0.56097	D	0.000027	D	0.98074	0.9365	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.999;0.985	D;D	0.80764	0.994;0.924	D	0.99187	1.0869	10	0.87932	D	0	-14.6037	15.1792	0.72941	1.0:0.0:0.0:0.0	.	373;374	P23771;P23771-2	GATA3_HUMAN;.	N	374;373	ENSP00000368632:K374N;ENSP00000341619:K373N	ENSP00000341619:K373N	K	+	3	2	GATA3	8155779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.226000	0.72277	1.981000	0.57761	0.379000	0.24179	AAA			0.438	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000046719.1		NM_001002295		C	8115773	A	C	8115773	3	2	116	1	0	0	0	0	1	0	0	0	6269	11	1	4	1140	4	GATA3	10	8115773	Missense_Mutation	SNP	A	TCGA-XE-AANV-01A-11D-A435-10	497312	8115773	127418974	35	8703											
RRP12	23223	mdanderson.org	37	chr10	99126540	99126540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctcctcctcctcctcCtcttcttcctcctccacggc	1	13	4	23	1	2	0	0	0	2	0	11	0	11	0	9	2	0	1	9	2	0	2			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr10:99126540C>T	ENST00000370992.4	-	27	3285	c.3174G>A	c.(3172-3174)gaG>gaA	p.E1058E	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.E997E|RRP12_ENST00000536831.1_Silent_p.E776E|RRP12_ENST00000315563.6_Silent_p.E958E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1058	Glu-rich.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		cctcctcctcctcttcttcct	0.662																																					p.E1058E													.	.			0			c.G3174A												94	108	103					10																	99126540		2203	4300	6503	SO:0001819	synonymous_variant	23223	exon27			CTCCTCCTCTTCT		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3174G>A	10.37:g.99126540C>T			91	0	0		61	0.07	4	NM_015179	144	0.01	1	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																					0.662	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049699.4		NM_015179		T	99126540	C	T	99126540	2	4	116	1	0	0	0	0	0	0	0	1	13709	680	24	3		3	RRP12	10	99126540	Silent	SNP	C	TCGA-XE-AANV-01A-11D-A435-10	91010767	99126540	36408207	36	8704											
CNNM1	26507	mdanderson.org	37	chr10	101089211	101089211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggactgctgcagccgaggcGctgtgctcctgctcttcttt	3	12	13	13	2	2	0	0	0	2	0	3	2	3	1	2	2	5	5	2	2	0	2			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr10:101089211G>T	ENST00000356713.4	+	1	356	c.67G>T	c.(67-69)Gct>Tct	p.A23S	CNNM1_ENST00000370528.3_Missense_Mutation_p.A23S|CNNM1_ENST00000370534.4_5'Flank|CNNM1_ENST00000446890.1_Missense_Mutation_p.A23S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	23					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)		CAGCCGAGGCGCTGTGCTCCT	0.736																																					p.A23S													.	.			0			c.G67T												3	4	4					10																	101089211		1462	2913	4375	SO:0001583	missense	26507	exon1			CGAGGCGCTGTGC	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.67G>T	10.37:g.101089211G>T	ENSP00000349147:p.Ala23Ser		31	0	0		26	0.08	2	NM_020348	1	0	0	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177621	0.57692	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528	D;D;D	0.84070	-1.73;-1.8;-1.79	4.0	4.0	0.46444	.	.	.	.	.	T	0.65491	0.2696	N	0.08118	0	0.80722	D	1	B;B	0.33583	0.418;0.294	B;B	0.24155	0.051;0.023	T	0.67369	-0.5688	9	0.33940	T	0.23	-5.8655	15.0403	0.71785	0.0:0.0:1.0:0.0	.	23;23	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	S	23	ENSP00000349147:A23S;ENSP00000406492:A23S;ENSP00000359559:A23S	ENSP00000349147:A23S	A	+	1	0	CNNM1	101079201	1.000000	0.71417	0.996000	0.52242	0.896000	0.52359	4.158000	0.58150	2.073000	0.62155	0.462000	0.41574	GCT			0.736	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049792.2		NM_020348		T	101089211	G	T	101089211	3	4	116	1	0	0	0	0	1	0	0	0	3614	1087	38	1	69	1	CNNM1	10	101089211	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	1962671	101089211	34445536	37	8705											
UBQLN3	50613	broad.mit.edu;mdanderson.org	37	chr11	5529527	5529527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggtctccaccttgtccaGtactgttctctgtggggtat	4	16	10	11	0	2	0	0	0	2	0	5	0	3	0	3	3	1	3	3	3	2	5			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr11:5529527G>T	ENST00000311659.4	-	2	1409	c.1262C>A	c.(1261-1263)aCt>aAt	p.T421N	HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	421										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)		ACCTTGTCCAGTACTGTTCTC	0.562																																					p.T421N	Ovarian(72;684 1260 12332 41642 52180)												.	UBQLN3	107		0			c.C1262A												115	116	116					11																	5529527		2201	4297	6498	SO:0001583	missense	50613	exon2			TGTCCAGTACTGT	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.1262C>A	11.37:g.5529527G>T	ENSP00000347997:p.Thr421Asn		161	0	0		102	0.05	5	NM_017481	0		0	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	7.137	0.581033	0.13686	.	.	ENSG00000175520	ENST00000311659	T	0.36699	1.24	4.89	3.98	0.46160	.	0.174778	0.27659	N	0.018381	T	0.32556	0.0833	M	0.75447	2.3	0.09310	N	1	P	0.40476	0.718	B	0.33890	0.172	T	0.23904	-1.0175	10	0.27082	T	0.32	-25.8163	9.3361	0.38051	0.0976:0.0:0.9024:0.0	.	421	Q9H347	UBQL3_HUMAN	N	421	ENSP00000347997:T421N	ENSP00000347997:T421N	T	-	2	0	UBQLN3	5486103	0.023000	0.18921	0.002000	0.10522	0.622000	0.37654	2.181000	0.42547	1.420000	0.47138	0.655000	0.94253	ACT			0.562	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143348.1		NM_017481		T	5529527	G	T	5529527	3	4	116	1	0	0	0	0	1	0	0	0	16922	1029	36	3	709	3	UBQLN3	11	5529527	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		5529527	129476989	38	8706											
DCHS1	8642	mdanderson.org	37	chr11	6643167	6643167	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgggggacatggcagctGaggacagggagccttcatgg	9	6	18	8	0	1	1	1	1	0	0	1	4	1	4	1	6	3	3	1	6	0	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr11:6643167G>T	ENST00000299441.3	-	21	10151	c.9740C>A	c.(9739-9741)tCa>tAa	p.S3247*	TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000528657.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3247					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)	p.S3247L(1)		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)		CATGGCAGCTGAGGACAGGGA	0.632																																					p.S3247X													DCHS1,pharynx,carcinoma,0,1	DCHS1	0	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C9740A												61	56	58					11																	6643167		2201	4296	6497	SO:0001587	stop_gained	8642	exon21			GCAGCTGAGGACA	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.9740C>A	11.37:g.6643167G>T	ENSP00000299441:p.Ser3247*		74	0	0		40	0.08	3	NM_003737	48	0	0	O15098	Nonsense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	19.686354|19.686354	0.99922|0.99922	.|.	.|.	ENSG00000166341|ENSG00000166341	ENST00000442153|ENST00000299441	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.35805	.|N	.|0.002976	T|.	0.44052|.	0.1275|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31916|.	-0.9926|.	5|.	0.87932|0.02654	D|T	0|1	.|.	17.0523|17.0523	0.86523|0.86523	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	7|3247	.|.	ENSP00000390601:Q7K|ENSP00000299441:S3247X	Q|S	-|-	1|2	0|0	DCHS1|DCHS1	6599743|6599743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.559000|9.559000	0.98135|0.98135	2.595000|2.595000	0.87683|0.87683	0.462000|0.462000	0.41574|0.41574	CAG|TCA			0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257258.1		NM_003737		T	6643167	G	T	6643167	4	4	116	1	0	0	0	0	0	1	0	0	4289	1294	45	3	160	3	DCHS1	11	6643167	Nonsense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	1113640	6643167	128363349	39	8707											
TMEM135	65084	broad.mit.edu	37	chr11	87032260	87032260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatttgctgtcatgaaccGaaaagtccttgatgtttttg	10	15	9	7	1	1	3	1	2	0	1	2	4	2	3	2	0	2	2	2	0	3	4			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr11:87032260G>T	ENST00000305494.5	+	15	1301	c.1262G>T	c.(1261-1263)cGa>cTa	p.R421L	TMEM135_ENST00000340353.7_Missense_Mutation_p.R399L|TMEM135_ENST00000532959.1_Missense_Mutation_p.R292L|TMEM135_ENST00000535167.1_Missense_Mutation_p.R282L	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	421					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTCATGAACCGAAAAGTCCTT	0.328																																					p.R421L													TMEM135,colon,carcinoma,+1,1	TMEM135	40	1	0			c.G1262T												87	83	84					11																	87032260		2201	4299	6500	SO:0001583	missense	65084	exon15			TGAACCGAAAAGT	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.1262G>T	11.37:g.87032260G>T	ENSP00000306344:p.Arg421Leu		139	0	0		96	0.03	3	NM_022918	20	0	0	Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075969	0.55646	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.55413	0.56;0.54;0.52;0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.68728	2.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70245	-0.4925	9	.	.	.	-4.7877	18.6946	0.91596	0.0:0.0:1.0:0.0	.	399;421	Q86UB9-2;Q86UB9	.;TM135_HUMAN	L	399;258;292;421;282	ENSP00000345513:R399L;ENSP00000436179:R292L;ENSP00000306344:R421L;ENSP00000439525:R282L	.	R	+	2	0	TMEM135	86709908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.938000	0.92943	2.665000	0.90641	0.655000	0.94253	CGA			0.328	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393875.1		NM_022918		T	87032260	G	T	87032260	3	4	116	1	0	0	0	0	1	0	0	0	16074	1058	37	1	1320	1	TMEM135	11	87032260	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	80389093	87032260	47974256	40	8708											
ZBTB16	7704	mdanderson.org	37	chr11	114121101	114121101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgctcccgggactactcgGccatgatcaagcacctgaga	10	6	11	14	3	1	2	1	2	0	1	3	4	2	3	3	2	3	2	3	2	2	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr11:114121101G>T	ENST00000335953.4	+	7	2226	c.1846G>T	c.(1846-1848)Gcc>Tcc	p.A616S	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.A616S	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	616					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGACTACTCGGCCATGATCAA	0.602																																					p.A616S													.	.			0			c.G1846T												105	90	95					11																	114121101		2201	4296	6497	SO:0001583	missense	7704	exon7			TACTCGGCCATGA	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1846G>T	11.37:g.114121101G>T	ENSP00000338157:p.Ala616Ser		62	0	0		38	0.08	3	NM_006006	2	0	0	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.306407	0.60305	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.59638	0.25;0.25	5.28	5.28	0.74379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	N	0.04746	-0.17	0.58432	D	0.999998	D	0.55605	0.972	D	0.63597	0.916	T	0.56294	-0.8003	10	0.18276	T	0.48	-9.6137	18.8905	0.92399	0.0:0.0:1.0:0.0	.	616	Q05516	ZBT16_HUMAN	S	616;616;493	ENSP00000338157:A616S;ENSP00000376721:A616S	ENSP00000309507:A493S	A	+	1	0	ZBTB16	113626311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.762000	0.98944	2.460000	0.83146	0.443000	0.29094	GCC			0.602	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398940.1		NM_006006		T	114121101	G	T	114121101	3	4	116	1	0	0	0	0	1	0	0	0	17549	1203	42	2	1868	2	ZBTB16	11	114121101	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	27088841	114121101	20885415	41	8709											
ETV6	2120	mdanderson.org	37	chr12	12022716	12022716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgcccagccccatcatGcaccctctgatcctgaaccc	8	8	6	19	0	2	3	1	3	1	0	3	3	3	3	6	0	4	1	6	0	1	0			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr12:12022716G>T	ENST00000396373.4	+	5	1096	c.822G>T	c.(820-822)atG>atT	p.M274I		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	274					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GCCCCATCATGCACCCTCTGA	0.617			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																p.M274I				Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	.	.			0			c.G822T												89	86	87					12																	12022716		2203	4300	6503	SO:0001583	missense	2120	exon5			CATCATGCACCCT	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.822G>T	12.37:g.12022716G>T	ENSP00000379658:p.Met274Ile		31	0	0		50	0.06	3	NM_001987	13	0	0	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531284	0.85706	.	.	ENSG00000139083	ENST00000396373	T	0.03717	3.83	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	M	0.68952	2.095	0.80722	D	1	B	0.28880	0.226	B	0.22601	0.04	T	0.38067	-0.9678	10	0.18710	T	0.47	.	19.571	0.95419	0.0:0.0:1.0:0.0	.	274	P41212	ETV6_HUMAN	I	274	ENSP00000379658:M274I	ENSP00000379658:M274I	M	+	3	0	ETV6	11913983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.604000	0.90877	2.713000	0.92767	0.655000	0.94253	ATG			0.617	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400130.2		NM_001987		T	12022716	G	T	12022716	3	4	116	1	0	0	0	0	1	0	0	0	5290	1319	46	2	840	2	ETV6	12	12022716	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		12022716	121829179	42	8710											
KIAA0284	283638	broad.mit.edu;mdanderson.org	37	chr14	105353593	105353593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcagtgcccgtgagcAgtcctcagagaggcagcatc	8	7	13	13	1	2	2	2	1	0	1	4	3	3	2	3	2	3	3	3	2	0	0			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr14:105353593A>G	ENST00000414716.3	+	12	3245	c.3017A>G	c.(3016-3018)cAg>cGg	p.Q1006R	CEP170B_ENST00000453495.1_Missense_Mutation_p.Q1007R|CEP170B_ENST00000556508.1_Missense_Mutation_p.Q936R|CEP170B_ENST00000418279.1_Missense_Mutation_p.Q936R	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1006						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCCCGTGAGCAGTCCTCAGAG	0.697																																					p.Q1006R													.	.			0			c.A3017G												13	17	16					14																	105353593		2090	4204	6294	SO:0001583	missense	283638	exon12			GTGAGCAGTCCTC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3017A>G	14.37:g.105353593A>G	ENSP00000404151:p.Gln1006Arg		41	0	0		38	0.18	7	NM_001112726	42	0.12	5	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.160706	0.00321	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.34275	1.37;1.4;1.39;1.39	4.37	3.47	0.39725	.	0.140478	0.46145	N	0.000305	T	0.10723	0.0262	N	0.01134	-0.995	0.20703	N	0.999868	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.32295	-0.9912	10	0.02654	T	1	-12.8418	11.4304	0.50036	0.0919:0.0:0.9081:0.0	.	1006;1006;936	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	R	936;1006;1007;936	ENSP00000451249:Q936R;ENSP00000404151:Q1006R;ENSP00000407238:Q1007R;ENSP00000415006:Q936R	ENSP00000404151:Q1006R	Q	+	2	0	KIAA0284	104424638	0.488000	0.25996	0.002000	0.10522	0.004000	0.04260	2.432000	0.44784	0.790000	0.33803	-0.415000	0.06103	CAG			0.697	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000410289.2		NM_001112726		G	105353593	A	G	105353593	3	3	116	1	0	0	0	0	1	0	0	0	8181	188	7	4	3059	4	KIAA0284	14	105353593	Missense_Mutation	SNP	A	TCGA-XE-AANV-01A-11D-A435-10		105353593	1995947	43	8711											
TYRO3	7301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	41854893	41854893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcgggggacccgctccctCtccatctgttttaaatgtaa	8	12	9	12	2	2	0	0	0	2	0	5	2	3	1	3	2	0	3	3	2	3	3			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr15:41854893C>T	ENST00000263798.3	+	4	781	c.557C>T	c.(556-558)tCt>tTt	p.S186F	TYRO3_ENST00000559066.1_Missense_Mutation_p.S141F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	186	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCGCTCCCTCTCCATCTGTT	0.567																																					p.S186F													.	.			0			c.C557T												36	35	35					15																	41854893		2203	4300	6503	SO:0001583	missense	7301	exon4			CTCCCTCTCCATC	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.557C>T	15.37:g.41854893C>T	ENSP00000263798:p.Ser186Phe		77	0	0		76	0.14	11	NM_006293	127	0.16	20	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	c	19.21	3.782708	0.70222	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.15017	2.46	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38663	N	0.001610	T	0.28433	0.0703	M	0.79693	2.465	0.80722	D	1	B	0.33135	0.399	B	0.34590	0.186	T	0.15521	-1.0434	10	0.54805	T	0.06	-13.6273	18.0396	0.89315	0.0:1.0:0.0:0.0	.	186	Q06418	TYRO3_HUMAN	F	118;186	ENSP00000263798:S186F	ENSP00000263798:S186F	S	+	2	0	TYRO3	39642185	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.121000	0.71602	2.481000	0.83766	0.472000	0.43445	TCT			0.567	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252693.2				T	41854893	C	T	41854893	3	4	116	1	0	0	0	0	1	0	0	0	16838	913	32	3	571	3	TYRO3	15	41854893	Missense_Mutation	SNP	C	TCGA-XE-AANV-01A-11D-A435-10		41854893	60676499	44	8712											
KBTBD13	390594	mdanderson.org	37	chr15	65369189	65369189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaccctggtgcaggtgtgGgtgggcggccagctcttcca	5	8	16	12	1	1	1	0	0	1	1	2	1	2	1	3	5	2	2	3	5	0	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr15:65369189G>T	ENST00000432196.2	+	1	36	c.36G>T	c.(34-36)tgG>tgT	p.W12C	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	12	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						TGCAGGTGTGGGTGGGCGGCC	0.711																																					p.W12C													.	.			0			c.G36T												7	11	10					15																	65369189		1880	4039	5919	SO:0001583	missense	390594	exon1			GGTGTGGGTGGGC		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.36G>T	15.37:g.65369189G>T	ENSP00000388723:p.Trp12Cys		13	0	0		26	0.12	3	NM_001101362	3	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	.	.	.	.	.	.	.	.	.	.	G	7.840	0.721763	0.15372	.	.	ENSG00000234438	ENST00000432196	T	0.66995	-0.24	4.44	4.44	0.53790	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.46249	0.1383	N	0.22421	0.69	0.48571	D	0.999679	B	0.19817	0.039	B	0.15484	0.013	T	0.47249	-0.9132	9	0.37606	T	0.19	.	3.3973	0.07311	0.0934:0.1695:0.5615:0.1755	.	12	C9JR72	KBTBD_HUMAN	C	12	ENSP00000388723:W12C	ENSP00000388723:W12C	W	+	3	0	KBTBD13	63156242	0.991000	0.36638	1.000000	0.80357	0.550000	0.35303	0.645000	0.24782	2.294000	0.77228	0.650000	0.86243	TGG			0.711	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418468.2		NM_001101362		T	65369189	G	T	65369189	3	4	116	1	0	0	0	0	1	0	0	0	8007	1241	43	3	38	3	KBTBD13	15	65369189	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	23514296	65369189	37162203	45	8713											
ARNT2	9915	broad.mit.edu	37	chr15	80883970	80883970	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcggaagtctggtcgcagtgGcaaagccagcaccatggcca	10	6	13	12	2	1	0	0	0	1	0	3	1	1	1	3	4	2	3	3	4	2	0			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr15:80883970G>A	ENST00000303329.4	+	18	2145	c.1980G>A	c.(1978-1980)tgG>tgA	p.W660*	ARNT2_ENST00000533983.1_Nonsense_Mutation_p.W649*|ARNT2_ENST00000527771.1_Nonsense_Mutation_p.W649*	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	660					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGTCGCAGTGGCAAAGCCAGC	0.577																																					p.W660X													.	ARNT2	88		0			c.G1980A												115	111	112					15																	80883970		2203	4300	6503	SO:0001587	stop_gained	9915	exon18			GCAGTGGCAAAGC	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1980G>A	15.37:g.80883970G>A	ENSP00000307479:p.Trp660*		207	0.0048309179	1		198	0.02	4	NM_014862	2	0	0	B4DIS7|O15024|Q8IYC2	Nonsense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	40	8.086756	0.98646	.	.	ENSG00000172379	ENST00000360062;ENST00000303329	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7216	0.91697	0.0:0.0:1.0:0.0	.	.	.	.	X	649;660	.	ENSP00000307479:W660X	W	+	3	0	ARNT2	78671025	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.771000	0.91751	2.414000	0.81942	0.462000	0.41574	TGG			0.577	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384389.2				A	80883970	G	A	80883970	4	1	116	1	0	0	0	0	0	1	0	0	966	1212	42	2	2050	2	ARNT2	15	80883970	Nonsense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	15514781	80883970	21647422	46	8714											
C16orf11	146325	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	614076	614076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcagcgccccaccccggCcccccgcctgtactacccgc	4	4	7	26	4	1	0	1	0	0	0	1	0	1	0	10	1	3	1	10	1	2	2			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr16:614076C>T	ENST00000409413.3	+	2	1061	c.782C>T	c.(781-783)gCc>gTc	p.A261V	NHLRC4_ENST00000424439.2_5'Flank|PIGQ_ENST00000409527.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		261	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCACCCCGGCCCCCCGCCTG	0.736																																					p.A261V													.	C16orf11	27		0			c.C782T												3	3	3					16																	614076		1321	3162	4483	SO:0001583	missense	146325	exon2			CCCCGGCCCCCCG																												ENST00000409413.3:c.782C>T	16.37:g.614076C>T	ENSP00000386499:p.Ala261Val		26	0	0		17	0.24	4	NM_145270	0		0	B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	0.984	-0.696145	0.03279	.	.	ENSG00000161992	ENST00000409413	T	0.09350	2.99	5.0	-3.5	0.04710	.	1.437530	0.05000	N	0.468952	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.41448	-0.9508	10	0.34782	T	0.22	.	7.1871	0.25804	0.0:0.4101:0.2153:0.3746	.	261	P0CG20	CP011_HUMAN	V	261	ENSP00000386499:A261V	ENSP00000386499:A261V	A	+	2	0	C16orf11	554077	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	0.629000	0.24538	-0.884000	0.03976	-1.867000	0.00556	GCC			0.736	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000333913.1				T	614076	C	T	614076	3	4	116	1	0	0	0	0	1	0	0	0	1812	739	26	2	784	2	C16orf11	16	614076	Missense_Mutation	SNP	C	TCGA-XE-AANV-01A-11D-A435-10		614076	89740677	47	8715											
EME2	197342	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1825969	1825969	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtcacagccttcccctcCccccgccttctgcagcaggt	4	10	8	19	1	2	0	1	0	1	0	4	0	4	0	7	1	3	3	7	1	0	3	rs143964421	byFrequency	TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr16:1825969C>A	ENST00000568449.1	+	7	972	c.951C>A	c.(949-951)tcC>tcA	p.S317S	MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank|EME2_ENST00000307394.7_Silent_p.S382S	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	317					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCTTCCCCTCCCCCCGCCTTC	0.692								Direct reversal of damage;Homologous recombination					C|||	6	0.00119808	0	0	5008	,	,		15043	0		0.001	False		,,,				2504	0.0051				p.S317S													.	.			0			c.C951A												20	17	18					16																	1825969		2183	4276	6459	SO:0001819	synonymous_variant	197342	exon7			CCCCTCCCCCCGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.951C>A	16.37:g.1825969C>A			40	0	0		35	0.23	8	NM_001257370	1	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			0		0.692	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000433185.2		NM_001010865		A	1825969	C	A	1825969	2	1	116	1	0	0	0	0	0	0	0	1	5096	610	22	3		3	EME2	16	1825969	Silent	SNP	C	TCGA-XE-AANV-01A-11D-A435-10	1211893	1825969	88528784	48	8716											
FAM65A	79567	mdanderson.org	37	chr16	67575907	67575907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggcccctggtgcagcaGcccgagccccttcccatcca	6	6	9	20	1	0	0	0	0	0	0	2	1	2	0	8	2	4	2	8	2	1	2			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr16:67575907G>T	ENST00000379312.3	+	13	1351	c.1230G>T	c.(1228-1230)caG>caT	p.Q410H	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.Q420H|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.Q406H|FAM65A_ENST00000422602.2_Missense_Mutation_p.Q426H|FAM65A_ENST00000540839.3_Missense_Mutation_p.Q426H|CTD-2012K14.2_ENST00000567122.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	410						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGTGCAGCAGCCCGAGCCCC	0.652																																					p.Q426H													.	.			0			c.G1278T												37	43	41					16																	67575907		2197	4297	6494	SO:0001583	missense	79567	exon13			GCAGCAGCCCGAG	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1230G>T	16.37:g.67575907G>T	ENSP00000368614:p.Gln410His		48	0	0		25	0.12	3	NM_001193523	32	0	0	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.65|11.65	1.701380|1.701380	0.30142|0.30142	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.15718	.|2.4;2.4;2.4	5.12|5.12	-0.457|-0.457	0.12186|0.12186	.|.	.|0.372012	.|0.24547	.|N	.|0.037590	T|T	0.11836|0.11836	0.0288|0.0288	L|L	0.36672|0.36672	1.1|1.1	0.30125|0.30125	N|N	0.80537|0.80537	.|B;B;B;B	.|0.29188	.|0.236;0.236;0.236;0.236	.|B;B;B;B	.|0.28553	.|0.091;0.091;0.091;0.091	T|T	0.16305|0.16305	-1.0407|-1.0407	5|10	.|0.30854	.|T	.|0.27	-4.7845|-4.7845	10.5167|10.5167	0.44894|0.44894	0.3783:0.0:0.6217:0.0|0.3783:0.0:0.6217:0.0	.|.	.|420;426;410;426	.|B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.|.;.;FA65A_HUMAN;.	S|H	401|410;406;426;420	.|ENSP00000368614:Q410H;ENSP00000042381:Q406H;ENSP00000400099:Q426H	.|ENSP00000042381:Q406H	A|Q	+|+	1|3	0|2	FAM65A|FAM65A	66133408|66133408	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.589000|0.589000	0.36550|0.36550	0.988000|0.988000	0.29616|0.29616	0.049000|0.049000	0.15920|0.15920	0.543000|0.543000	0.68304|0.68304	GCC|CAG			0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000268866.3		NM_024519		T	67575907	G	T	67575907	3	4	116	1	0	0	0	0	1	0	0	0	5612	962	34	2	1264	2	FAM65A	16	67575907	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	65749938	67575907	22778846	49	8717											
CENPT	80152	hgsc.bcm.edu	37	chr16	67864336	67864336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgtgtcttgcgaccGgcagcctgctcagcgtcttc	3	12	11	15	3	4	0	1	0	3	0	5	1	4	0	2	1	5	3	2	1	0	2			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr16:67864336G>A	ENST00000562787.1	-	11	1367	c.819C>T	c.(817-819)gcC>gcT	p.A273A	CENPT_ENST00000564817.1_Silent_p.A273A|CENPT_ENST00000440851.2_Silent_p.A273A|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Silent_p.A273A	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	273	Flexible stalk domain. {ECO:0000250}.				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)		TCTTGCGACCGGCAGCCTGCT	0.597																																					p.A273A													.	.			0			c.C819T												57	67	64					16																	67864336		2114	4246	6360	SO:0001819	synonymous_variant	80152	exon11			GCGACCGGCAGCC	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.819C>T	16.37:g.67864336G>A			111	0	0		100	0.04	4	NM_025082	179	0	0	Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	CCDS42182.1																																																																																					0.597	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422020.1		NM_025082		A	67864336	G	A	67864336	2	1	116	1	0	0	0	0	0	0	0	1	3244	1103	39	1		1	CENPT	16	67864336	Silent	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	288429	67864336	22490417	50	8718											
ZBTB4	57659	broad.mit.edu;mdanderson.org	37	chr17	7366300	7366300	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcttaggcttgtaggagtaGtagggcctccagagctggtc	7	10	15	9	1	0	1	0	0	0	1	2	2	1	2	2	4	1	6	2	4	4	5			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr17:7366300G>T	ENST00000311403.4	-	4	2340	c.2001C>A	c.(1999-2001)taC>taA	p.Y667*	ZBTB4_ENST00000380599.4_Nonsense_Mutation_p.Y667*	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	667					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGTAGGAGTAGTAGGGCCTCC	0.642																																					p.Y667X													.	ZBTB4	163		0			c.C2001A												61	61	61					17																	7366300		2203	4300	6503	SO:0001587	stop_gained	57659	exon4			GGAGTAGTAGGGC	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2001C>A	17.37:g.7366300G>T	ENSP00000307858:p.Tyr667*		43	0	0		41	0.07	3	NM_001128833	23	0	0	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Nonsense_Mutation	SNP	ENST00000311403.4	37	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	38	7.212826	0.98139	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3761	7.555	0.27819	0.1746:0.0:0.8254:0.0	.	.	.	.	X	667	.	ENSP00000307858:Y667X	Y	-	3	2	ZBTB4	7307024	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.110000	0.50352	2.643000	0.89663	0.462000	0.41574	TAC			0.642	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226940.2		NM_020899		T	7366300	G	T	7366300	4	4	116	1	0	0	0	0	0	1	0	0	17564	1024	36	3	1044	3	ZBTB4	17	7366300	Nonsense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		7366300	73828910	51	8719											
KRTAP4-8	728224	mdanderson.org	37	chr17	39254149	39254149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagctggggcgacagcagGtgggctggcagcacacagac	10	3	17	11	1	0	1	0	0	0	1	0	2	0	1	0	5	4	6	0	5	0	0	rs201246375		TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr17:39254149G>C	ENST00000333822.4	-	1	244	c.188C>G	c.(187-189)aCc>aGc	p.T63S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	63	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCGACAGCAGGTGGGCTGGCA	0.652																																					p.T63S													.	.			0			c.C188G												7	10	9					17																	39254149		651	1515	2166	SO:0001583	missense	728224	exon1			CAGCAGGTGGGCT	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.188C>G	17.37:g.39254149G>C	ENSP00000328444:p.Thr63Ser		23	0	0		16	0.19	3	NM_031960	0		0	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153662	0.06585	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01215	5.16	3.11	-1.04	0.10068	.	1.573260	0.03861	N	0.273912	T	0.00724	0.0024	N	0.10809	0.05	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43637	-0.9379	10	0.05721	T	0.95	.	4.7356	0.12986	0.2319:0.434:0.3341:0.0	.	63	Q9BYQ9	KRA48_HUMAN	S	63	ENSP00000328444:T63S	ENSP00000414561:T63S	T	-	2	0	KRTAP4-8	36507675	0.000000	0.05858	0.109000	0.21407	0.234000	0.25298	-2.396000	0.01052	-0.528000	0.06366	0.449000	0.29647	ACC			0.652	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257684.1		NM_031960		C	39254149	G	C	39254149	3	2	116	1	0	0	0	0	1	0	0	0	8571	1261	44	5	373	5	KRTAP4-8	17	39254149	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	31887849	39254149	41941061	52	8720											
CDH19	28513	mdanderson.org	37	chr18	64211262	64211262	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaccacgcctacaaatGatccctgtggggtttcttca	10	10	8	13	1	2	2	1	1	1	1	3	2	3	2	3	2	1	1	3	2	2	3			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr18:64211262G>T	ENST00000540086.1	-	7	1406	c.1160C>A	c.(1159-1161)tCa>tAa	p.S387*	CDH19_ENST00000262150.2_Nonsense_Mutation_p.S387*	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	490	Cadherin 4. {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)				GCCTACAAATGATCCCTGTGG	0.388																																					p.S387X													.	.			0			c.C1160A												52	52	52					18																	64211262		2203	4300	6503	SO:0001587	stop_gained	28513	exon7			ACAAATGATCCCT	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.1160C>A	18.37:g.64211262G>T	ENSP00000439593:p.Ser387*		129	0	0		81	0.05	4	NM_001271028	1	0	0	O15098	Nonsense_Mutation	SNP	ENST00000540086.1	37	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	37	6.319339	0.97471	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	.	.	.	5.62	4.76	0.60689	.	0.222293	0.39985	N	0.001202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	14.7364	0.69419	0.0703:0.0:0.9297:0.0	.	.	.	.	X	387;387;332	.	ENSP00000262150:S387X	S	-	2	0	CDH19	62362242	0.949000	0.32298	0.013000	0.15412	0.549000	0.35272	2.743000	0.47442	1.531000	0.49152	-0.143000	0.13931	TCA			0.388	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000442285.1		NM_021153		T	64211262	G	T	64211262	4	4	116	1	0	0	0	0	0	1	0	0	3106	1294	45	3	1182	3	CDH19	18	64211262	Nonsense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		64211262	13865986	53	8721											
DOT1L	84444	mdanderson.org	37	chr19	2226425	2226425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttcccggctccctgtcggGggctgacggactcagcccgg	3	8	14	16	4	1	1	1	1	0	0	4	2	3	2	3	5	1	2	3	5	0	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr19:2226425G>T	ENST00000398665.3	+	27	3941	c.3905G>T	c.(3904-3906)gGg>gTg	p.G1302V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1302					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)		TCCCTGTCGGGGGCTGACGGA	0.677																																					p.G1302V													.	.			0			c.G3905T												13	17	16					19																	2226425		1957	4111	6068	SO:0001583	missense	84444	exon27			TGTCGGGGGCTGA	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.3905G>T	19.37:g.2226425G>T	ENSP00000381657:p.Gly1302Val		22	0.0454545455	1		20	0.1	2	NM_032482	79	0	0	O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517752	0.27123	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.34667	1.78;1.35	3.91	2.82	0.32997	.	0.130398	0.34828	N	0.003654	T	0.34513	0.0900	L	0.50333	1.59	0.28764	N	0.900729	B;B	0.28760	0.028;0.221	B;B	0.37239	0.004;0.244	T	0.37126	-0.9719	10	0.87932	D	0	-13.3176	7.5633	0.27864	0.0:0.1909:0.6277:0.1814	.	1302;1302	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	V	1302;1302;182	ENSP00000381657:G1302V;ENSP00000407411:G182V	ENSP00000221482:G1302V	G	+	2	0	DOT1L	2177425	0.944000	0.32072	0.028000	0.17463	0.010000	0.07245	1.051000	0.30417	0.719000	0.32188	0.561000	0.74099	GGG			0.677	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318066.1		NM_032482		T	2226425	G	T	2226425	3	4	116	1	0	0	0	0	1	0	0	0	4714	1232	43	3	4011	3	DOT1L	19	2226425	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		2226425	56902558	54	8722											
OR7C2	26658	broad.mit.edu	37	chr19	15052604	15052604	+	Frame_Shift_Del	DEL	T	T	-																															caggctgcctcactcagataTtttttttcattgcatttgga																										TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr19:15052604delT	ENST00000248072.3	+	1	304	c.304delT	c.(304-306)tttfs	p.F104fs		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	104						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)					CACTCAGATATTTTTTTTCAT	0.468																																					p.F102fs													.	OR7C2	50		0			c.304delT												56	54	55					19																	15052604		2203	4300	6503	SO:0001589	frameshift_variant	26658	exon1			CAGATATTTTTTT	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.304delT	19.37:g.15052604delT	ENSP00000248072:p.Phe104fs		166	0	0		191	0.04	8	NM_012377	0		0	O43881|Q6IFP9	Frame_Shift_Del	DEL	ENST00000248072.3	37	CCDS12320.1																																																																																					0.468	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466281.1				-	15052604	T	-	15052604	7	5	116	1	0	1	0	1	0	0	0	0	11235	1493	52	0	306	0	OR7C2	19	15052604	Frame_Shift_Del	DEL	T	TCGA-XE-AANV-01A-11D-A435-10	12826179	15052604	44076379	55	8723											
ZNF676	163223	ucsc.edu	37	chr19	22363172	22363172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacattcttcacatttGtagggtttctctccagcatg	7	16	7	11	0	3	0	1	0	2	0	5	0	4	0	2	1	2	3	2	1	1	6			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr19:22363172G>A	ENST00000397121.2	-	3	1664	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	449					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCACATTTGTAGGGTTTCT	0.438																																					p.Y449Y													.	ZNF676	146		0			c.C1347T																																									SO:0001819	synonymous_variant	163223	exon3			ACATTTGTAGGGT	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1347C>T	19.37:g.22363172G>A			74	0.0405405405	3		75	0.04	3	NM_001001411	56	0.27	15	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																					0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464392.1		NM_001001411		A	22363172	G	A	22363172	2	1	116	1	0	0	0	0	0	0	0	1	18106	1372	48	3		3	ZNF676	19	22363172	Silent	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	7310568	22363172	36765811	56	8724											
ZNF540	163255	hgsc.bcm.edu	37	chr19	38103206	38103206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttagtgtatgcggacaacTtacccgtcatcagaaaattc	12	13	7	9	2	2	1	2	0	0	1	3	2	2	2	1	1	3	1	1	1	6	5			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr19:38103206T>C	ENST00000592533.1	+	5	1357	c.1025T>C	c.(1024-1026)cTt>cCt	p.L342P	ZNF540_ENST00000316433.4_Missense_Mutation_p.L342P|ZNF540_ENST00000343599.5_Missense_Mutation_p.L342P|ZNF540_ENST00000589117.1_Missense_Mutation_p.L310P	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	342					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCGGACAACTTACCCGTCAT	0.363																																					p.L342P													.	.			0			c.T1025C												73	70	71					19																	38103206		2203	4300	6503	SO:0001583	missense	163255	exon5			GACAACTTACCCG	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1025T>C	19.37:g.38103206T>C	ENSP00000466274:p.Leu342Pro		99	0	0		77	0.05	4	NM_152606	17	0	0	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808865	0.50421	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.53857	0.6;3.04	2.39	2.39	0.29439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77054	0.4074	H	0.95079	3.62	0.23351	N	0.997859	D;D	0.89917	1.0;1.0	D;D	0.67548	0.92;0.952	T	0.65796	-0.6081	9	0.87932	D	0	.	9.4104	0.38489	0.0:0.0:0.0:1.0	.	310;342	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	P	342;310	ENSP00000324598:L342P;ENSP00000343768:L310P	ENSP00000324598:L342P	L	+	2	0	ZNF540	42795046	0.354000	0.24912	0.037000	0.18230	0.429000	0.31625	3.977000	0.56874	1.081000	0.41110	0.254000	0.18369	CTT			0.363	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000459481.1		NM_152606		C	38103206	T	C	38103206	3	2	116	1	0	0	0	0	1	0	0	0	17998	1609	56	4	1039	4	ZNF540	19	38103206	Missense_Mutation	SNP	T	TCGA-XE-AANV-01A-11D-A435-10	15740034	38103206	21025777	57	8725											
TOMM40	10452	broad.mit.edu	37	chr19	45404037	45404037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacgccttgcctggccctgGgtggagagctggtctaccac	5	9	13	14	1	2	1	1	0	1	1	2	2	2	1	4	4	3	1	4	4	1	2			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr19:45404037G>T	ENST00000426677.2	+	6	874	c.694G>T	c.(694-696)Ggt>Tgt	p.G232C	TOMM40_ENST00000405636.2_Missense_Mutation_p.G232C|TOMM40_ENST00000592434.1_Missense_Mutation_p.G232C|TOMM40_ENST00000252487.5_Missense_Mutation_p.G232C	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	232					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)		CCTGGCCCTGGGTGGAGAGCT	0.612																																					p.G232C													.	TOMM40	13		0			c.G694T												66	58	61					19																	45404037		2203	4300	6503	SO:0001583	missense	10452	exon6			GCCCTGGGTGGAG	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.694G>T	19.37:g.45404037G>T	ENSP00000410339:p.Gly232Cys		159	0	0		127	0.03	4	NM_001128917	478	0	0	Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	ENST00000426677.2	37	CCDS12646.1	.	.	.	.	.	.	.	.	.	.	g	19.60	3.857985	0.71834	.	.	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	D;D;D	0.96427	-4.01;-4.01;-4.01	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99316	1.0905	10	0.87932	D	0	-14.2944	14.5157	0.67818	0.0:0.0:1.0:0.0	.	232;232	O96008-2;O96008	.;TOM40_HUMAN	C	232	ENSP00000410339:G232C;ENSP00000385184:G232C;ENSP00000252487:G232C	ENSP00000252487:G232C	G	+	1	0	TOMM40	50095877	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	9.431000	0.97494	2.286000	0.76751	0.457000	0.33378	GGT			0.612	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453241.1				T	45404037	G	T	45404037	3	4	116	1	0	0	0	0	1	0	0	0	16381	1232	43	3	716	3	TOMM40	19	45404037	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	7300831	45404037	13724946	58	8726											
ZNF524	147807	mdanderson.org	37	chr19	56113901	56113901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcactcagagctgaagccGcaccagtgcaaggtttgcgg	9	7	13	12	3	1	2	1	1	0	1	2	2	1	2	2	2	4	5	2	2	2	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr19:56113901G>A	ENST00000591046.1	+	1	657	c.423G>A	c.(421-423)ccG>ccA	p.P141P	FIZ1_ENST00000592585.1_5'Flank|ZNF865_ENST00000568956.1_5'Flank|ZNF524_ENST00000301073.3_Silent_p.P141P			Q96C55	ZN524_HUMAN	zinc finger protein 524	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)			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGCTGAAGCCGCACCAGTGCA	0.677																																					p.P141P													.	.			0			c.G423A												14	16	15					19																	56113901		2201	4296	6497	SO:0001819	synonymous_variant	147807	exon2			GAAGCCGCACCAG	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"Zinc fingers, C2H2-type"	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.423G>A	19.37:g.56113901G>A			26	0	0		25	0.12	3	NM_153219	34	0	0	Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	37	CCDS12929.1																																																																																					0.677	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457938.1		NM_153219		A	56113901	G	A	56113901	2	1	116	1	0	0	0	0	0	0	0	1	17989	1074	38	1		1	ZNF524	19	56113901	Silent	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	10709864	56113901	3015082	59	8727											
SIGLEC1	6614	mdanderson.org	37	chr20	3673769	3673769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaggtcaggcgcaggttgCggggcgcgtctgcagggcat	5	7	20	9	4	2	0	1	0	1	0	2	0	2	0	0	7	2	5	0	7	1	2			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr20:3673769C>T	ENST00000344754.4	-	14	3517	c.3518G>A	c.(3517-3519)cGc>cAc	p.R1173H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1173H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1173					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						GCGCAGGTTGCGGGGCGCGTC	0.677																																					p.R1173H													.	.			0			c.G3518A												17	24	21					20																	3673769		2174	4273	6447	SO:0001583	missense	6614	exon14			AGGTTGCGGGGCG	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.3518G>A	20.37:g.3673769C>T	ENSP00000341141:p.Arg1173His		24	0	0		19	0.11	2	NM_023068	10	0	0	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452245	0.63290	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.23950	1.91;1.88	4.83	3.87	0.44632	.	0.000000	0.37857	N	0.001914	T	0.53738	0.1815	M	0.89715	3.055	0.30881	N	0.731423	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.60989	-0.7153	10	0.35671	T	0.21	.	10.23	0.43250	0.198:0.802:0.0:0.0	.	1173;1173	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	1173	ENSP00000341141:R1173H;ENSP00000202578:R1173H	ENSP00000202578:R1173H	R	-	2	0	SIGLEC1	3621769	0.851000	0.29673	0.840000	0.33206	0.801000	0.45260	1.469000	0.35343	1.235000	0.43724	0.655000	0.94253	CGC			0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077761.2		NM_023068		T	3673769	C	T	3673769	3	4	116	1	0	0	0	0	1	0	0	0	14328	768	27	1	1643	1	SIGLEC1	20	3673769	Missense_Mutation	SNP	C	TCGA-XE-AANV-01A-11D-A435-10		3673769	59351751	60	8728											
PREX1	57580	broad.mit.edu;mdanderson.org	37	chr20	47273634	47273634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcgggagcagaaggactgGttgaggatggactccacctc	9	6	16	10	2	0	2	0	1	0	1	2	6	1	6	2	6	1	2	2	6	1	1			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr20:47273634G>T	ENST00000371941.3	-	18	2089	c.2067C>A	c.(2065-2067)aaC>aaA	p.N689K	PREX1_ENST00000396220.1_Missense_Mutation_p.N689K	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	689	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)	p.N689K(2)		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)			AGAAGGACTGGTTGAGGATGG	0.642																																					p.N689K													PREX1_ENST00000396220,NS,carcinoma,0,2	PREX1	441	2	2	Substitution - Missense(2)	lung(2)	c.C2067A												93	69	77					20																	47273634		2203	4300	6503	SO:0001583	missense	57580	exon18			GGACTGGTTGAGG	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.2067C>A	20.37:g.47273634G>T	ENSP00000361009:p.Asn689Lys		50	0	0		49	0.06	3	NM_020820	122	0	0	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060183	0.19987	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.49139	0.79;0.79	5.12	3.14	0.36123	PDZ/DHR/GLGF (2);	0.000000	0.64402	U	0.000015	T	0.21921	0.0528	N	0.08118	0	0.54753	D	0.999985	B	0.19583	0.037	B	0.12837	0.008	T	0.14062	-1.0486	10	0.02654	T	1	.	11.8942	0.52648	0.1287:0.0:0.8713:0.0	.	689	Q8TCU6	PREX1_HUMAN	K	689	ENSP00000361009:N689K;ENSP00000379522:N689K	ENSP00000361009:N689K	N	-	3	2	PREX1	46707041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.887000	0.39698	2.376000	0.81061	0.561000	0.74099	AAC			0.642	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079623.1		NM_020820		T	47273634	G	T	47273634	3	4	116	1	0	0	0	0	1	0	0	0	12496	1252	44	3	3004	3	PREX1	20	47273634	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	43599865	47273634	15751886	61	8729											
MX1	4599	bcgsc.ca	37	chr21	42823120	42823120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggcttgctttcacagatGtttcgataaaaaattttgaa	12	15	7	7	2	1	2	1	1	0	1	3	3	2	2	1	1	1	3	1	1	4	6			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chr21:42823120G>T	ENST00000398600.2	+	17	2484	c.1459G>T	c.(1459-1461)Gtt>Ttt	p.V487F	MX1_ENST00000455164.2_Missense_Mutation_p.V487F|MX1_ENST00000288383.6_Missense_Mutation_p.V464F|MX1_ENST00000398598.3_Missense_Mutation_p.V487F	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	487	Middle domain.|Stalk.				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)				TTTCACAGATGTTTCGATAAA	0.308																																					p.V487F													.	MX1	58		0			c.G1459T												175	197	190					21																	42823120		2203	4300	6503	SO:0001583	missense	4599	exon17			ACAGATGTTTCGA		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.1459G>T	21.37:g.42823120G>T	ENSP00000381601:p.Val487Phe		104	0	0		137	0.04	6	NM_001144925	433	0	0	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861693	0.51482	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	4.62	0.775	0.18527	Dynamin central domain (1);	0.622757	0.16274	N	0.221647	T	0.80412	0.4618	M	0.79805	2.47	0.09310	N	1	P	0.49447	0.924	P	0.59221	0.854	T	0.68872	-0.5294	10	0.72032	D	0.01	-7.5311	3.9084	0.09193	0.4041:0.1801:0.4158:0.0	.	487	P20591	MX1_HUMAN	F	487;487;487;464	ENSP00000381601:V487F;ENSP00000381599:V487F;ENSP00000410523:V487F;ENSP00000288383:V464F	ENSP00000288383:V464F	V	+	1	0	MX1	41744990	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.148000	0.16224	0.254000	0.21573	0.655000	0.94253	GTT			0.308	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195161.2				T	42823120	G	T	42823120	3	4	116	1	0	0	0	0	1	0	0	0	10013	1377	48	3	1501	3	MX1	21	42823120	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10		42823120	5306775	62	8730											
FAM48B1	100130302	bcgsc.ca	37	chrX	24382372	24382372	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattttctgctgctgctgctAttgctgctgctgctgctgct	2	17	10	12	0	1	0	0	0	1	0	1	0	1	0	0	0	10	10	0	0	1	4	rs2695489		TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chrX:24382372A>G								AC004552.1 (15349 upstream) : PDK3 (100965 downstream)																							tgctgctgctattgctgctgc	0.577																																					p.I499V													.	.			0			c.A1495G												10	8	8					X																	24382372		1496	3415	4911	SO:0001628	intergenic_variant	0	exon1			GCTGCTATTGCTG																													X.37:g.24382372A>G			209	0.023923445	5		211	0.13	27	NM_001136234	0		0		RNA	SNP		37																																																																																					0	0.577											G	24382372	A	G	24382372	1	3	116	0	1	0	0	0	0	0	0	0	5586	449	16	4		4	FAM48B1	23	24382372	IGR	SNP	A	TCGA-XE-AANV-01A-11D-A435-10		24382372	130888188	63	8731											
NAP1L3	4675	mdanderson.org	37	chrX	92927835	92927835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcacattcttcttctgtagGctcgtattctgcattgatga	7	18	7	9	1	5	2	1	2	4	0	6	2	5	2	0	1	1	4	0	1	2	8			TCGA-XE-AANV-01A-11D-A435-10	TCGA-XE-AANV-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d27a570c-2115-4885-9939-4aa5955bf4cd	b5dc854d-44a1-4ef2-87fe-c65fc39f7d2e	g.chrX:92927835G>T	ENST00000373079.3	-	1	732	c.469C>A	c.(469-471)Cct>Act	p.P157T	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.P150T|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	157	Glu-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						TCTTCTGTAGGCTCGTATTCT	0.428																																					p.P157T													.	.			0			c.C469A												69	55	60					X																	92927835		2203	4300	6503	SO:0001583	missense	4675	exon1			CTGTAGGCTCGTA		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.469C>A	X.37:g.92927835G>T	ENSP00000362171:p.Pro157Thr		101	0	0		79	0.05	4	NM_004538	33	0	0	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073847	0.36566	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.28069	1.63	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	M	0.87758	2.905	0.20403	N	0.99991	P	0.42357	0.777	P	0.51170	0.661	T	0.46233	-0.9206	10	0.87932	D	0	.	8.3942	0.32546	0.0:0.2355:0.7645:0.0	.	157	Q99457	NP1L3_HUMAN	T	157;150	ENSP00000362171:P157T	ENSP00000362171:P157T	P	-	1	0	NAP1L3	92814491	1.000000	0.71417	0.405000	0.26409	0.977000	0.68977	3.444000	0.52914	2.109000	0.64355	0.529000	0.55759	CCT			0.428	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057449.1		NM_004538		T	92927835	G	T	92927835	3	4	116	1	0	0	0	0	1	0	0	0	10174	1203	42	2	1055	2	NAP1L3	23	92927835	Missense_Mutation	SNP	G	TCGA-XE-AANV-01A-11D-A435-10	68545463	92927835	62342725	64	8732											
LRRC7	57554	broad.mit.edu	37	chr1	70504282	70504282	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctactgaaatacctagtccTttttctccaggcgtaccatg	9	14	6	12	1	2	1	0	1	2	0	4	1	3	1	4	1	3	1	4	1	5	6			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr1:70504282T>C	ENST00000035383.5	+	19	2691	c.2661T>C	c.(2659-2661)ccT>ccC	p.P887P	LRRC7_ENST00000310961.5_Silent_p.P892P|LRRC7_ENST00000415775.2_Silent_p.P171P	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	887						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						TACCTAGTCCTTTTTCTCCAG	0.443																																					p.P887P													.	LRRC7	400		0			c.T2661C												73	76	75					1																	70504282		2203	4300	6503	SO:0001819	synonymous_variant	57554	exon19			TAGTCCTTTTTCT		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.2661T>C	1.37:g.70504282T>C			183	0.0054644809	1		170	0.03	5	NM_020794	1	0	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																					0.443	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131261.1		NM_020794		C	70504282	T	C	70504282	2	2	117	1	0	0	0	0	0	0	0	1	9036	1596	56	4		4	LRRC7	1	70504282	Silent	SNP	T	TCGA-XE-AAO3-01A-11D-A435-10		70504282	178746339	1	8733											
SCCPDH	51097	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	246922343	246922343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgtcttgcaggtggccaAtttcttattgtcgggaactc	6	15	11	9	1	3	0	0	0	3	0	5	1	3	1	1	3	2	1	1	3	3	4	rs142346609	byFrequency	TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr1:246922343A>G	ENST00000366510.3	+	7	1079	c.703A>G	c.(703-705)Att>Gtt	p.I235V		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	235						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CAGGTGGCCAATTTCTTATTG	0.393													A|||	16	0.00319489	0.0121	0	5008	,	,		17890	0		0	False		,,,				2504	0				p.I235V													.	.			0			c.A703G							A	VAL/ILE	75,4331	67.0+/-104.6	1,73,2129	237	232	233		703	-9	0	1	dbSNP_134	233	0,8600		0,0,4300	yes	missense	SCCPDH	NM_016002.2	29	1,73,6429	GG,GA,AA		0.0,1.7022,0.5767	benign	235/430	246922343	75,12931	2203	4300	6503	SO:0001583	missense	51097	exon7			TGGCCAATTTCTT		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.703A>G	1.37:g.246922343A>G	ENSP00000355467:p.Ile235Val		137	0	0		162	0.15	24	NM_016002	77	0.27	21	Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	CCDS31084.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	A	2.596	-0.294021	0.05568	0.017022	0.0	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.39997	1.05	6.16	-8.97	0.00758	.	0.373010	0.29924	N	0.010852	T	0.04272	0.0118	N	0.01109	-1.01	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.33624	-0.9861	10	0.02654	T	1	.	13.7522	0.62915	0.2047:0.1615:0.6338:0.0	.	235	Q8NBX0	SCPDL_HUMAN	V	235;66	ENSP00000355467:I235V	ENSP00000355466:I66V	I	+	1	0	SCCPDH	244988966	0.000000	0.05858	0.012000	0.15200	0.885000	0.51271	-1.167000	0.03126	-0.982000	0.03515	0.528000	0.53228	ATT	0.006		0.393	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096902.2		NM_016002		G	246922343	A	G	246922343	3	3	117	1	0	0	0	0	1	0	0	0	13908	101	4	4	729	4	SCCPDH	1	246922343	Missense_Mutation	SNP	A	TCGA-XE-AAO3-01A-11D-A435-10	176418061	246922343	2328278	2	8734											
MFSD2B	388931	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	24247062	24247062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccacctgcatgatccttGctgggctctgcatcctcatg	5	12	9	15	0	2	1	1	1	1	0	4	1	4	1	4	1	4	4	4	1	0	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr2:24247062G>C	ENST00000406420.3	+	13	1427	c.1411G>C	c.(1411-1413)Gct>Cct	p.A471P	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A471P	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	471					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CATGATCCTTGCTGGGCTCTG	0.637																																					p.A471P													.	.			0			c.G1411C												53	61	58					2																	24247062		2096	4225	6321	SO:0001583	missense	388931	exon13			ATCCTTGCTGGGC		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.1411G>C	2.37:g.24247062G>C	ENSP00000385527:p.Ala471Pro		95	0	0		67	0.3	20	NM_001080473	1	1	1	B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715766	0.30413	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.88124	-2.34;-2.34	4.93	-2.88	0.05682	Major facilitator superfamily domain, general substrate transporter (1);	0.586082	0.14981	U	0.287266	T	0.77329	0.4114	N	0.08118	0	0.09310	N	1	P	0.35328	0.495	B	0.43838	0.433	T	0.71087	-0.4694	10	0.72032	D	0.01	0.8179	11.7264	0.51712	0.4893:0.0:0.5107:0.0	.	471	A6NFX1	MFS2B_HUMAN	P	471	ENSP00000385527:A471P;ENSP00000342501:A471P	ENSP00000342501:A471P	A	+	1	0	MFSD2B	24100566	0.000000	0.05858	0.001000	0.08648	0.673000	0.39480	-1.106000	0.03319	-0.612000	0.05701	-0.467000	0.05162	GCT			0.637	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000324307.1		NM_001080473		C	24247062	G	C	24247062	3	2	117	1	0	0	0	0	1	0	0	0	9547	1319	46	5	1461	5	MFSD2B	2	24247062	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		24247062	218952311	3	8735											
DTNB	1838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	25655860	25655860	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacgctgaatctcctgcAggatctctctagagaggatg	10	9	13	9	1	3	3	0	1	3	2	5	7	3	5	1	3	1	2	1	3	2	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr2:25655860A>T	ENST00000406818.3	-	14	1601	c.1352T>A	c.(1351-1353)cTg>cAg	p.L451Q	DTNB_ENST00000496972.2_Missense_Mutation_p.L394Q|DTNB_ENST00000405222.1_Missense_Mutation_p.L421Q|DTNB_ENST00000545439.1_Missense_Mutation_p.L247Q|DTNB_ENST00000404103.3_Missense_Mutation_p.L451Q|DTNB_ENST00000407186.1_Missense_Mutation_p.L421Q|DTNB_ENST00000407661.3_Missense_Mutation_p.L451Q|DTNB_ENST00000407038.3_Missense_Mutation_p.L421Q|DTNB_ENST00000288642.8_Missense_Mutation_p.L451Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	451						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)					AATCTCCTGCAGGATCTCTCT	0.587																																					p.L451Q													.	.			0			c.T1352A												24	29	28					2																	25655860		2172	4278	6450	SO:0001583	missense	1838	exon14			TCCTGCAGGATCT	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.1352T>A	2.37:g.25655860A>T	ENSP00000384084:p.Leu451Gln		34	0	0		31	0.23	7	NM_021907	36	0.28	10	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763817	0.89932	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.39997	2.34;2.4;2.39;2.38;2.36;2.34;2.37;2.38;1.05	5.8	5.8	0.92144	.	0.284062	0.35291	N	0.003316	T	0.64800	0.2631	M	0.82923	2.615	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.992;0.997;0.995;0.995;0.991;0.991;0.983;0.991;0.985;0.998;0.995;0.998;0.991	D;D;D;D;D;D;P;D;D;D;D;D;D	0.72982	0.928;0.939;0.979;0.967;0.954;0.954;0.897;0.939;0.956;0.972;0.979;0.966;0.939	T	0.63998	-0.6510	10	0.18276	T	0.48	-13.404	14.9789	0.71296	1.0:0.0:0.0:0.0	.	451;247;394;451;451;394;421;421;421;451;451;451;451	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	Q	394;451;451;451;421;421;421;451;247;304	ENSP00000444463:L394Q;ENSP00000384084:L451Q;ENSP00000385482:L451Q;ENSP00000385193:L451Q;ENSP00000384767:L421Q;ENSP00000384787:L421Q;ENSP00000385784:L421Q;ENSP00000288642:L451Q;ENSP00000444961:L247Q	ENSP00000288642:L451Q	L	-	2	0	DTNB	25509364	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.935000	0.92923	2.209000	0.71365	0.533000	0.62120	CTG			0.587	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325361.1		NM_033147		T	25655860	A	T	25655860	3	4	117	1	0	0	0	0	1	0	0	0	4794	188	7	5	559	5	DTNB	2	25655860	Missense_Mutation	SNP	A	TCGA-XE-AAO3-01A-11D-A435-10	1408798	25655860	217543513	4	8736											
POTEF	728378	broad.mit.edu	37	chr2	130877755	130877755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccttgctcttgctgcTccccctgcagcaggggaagc	5	8	11	17	0	1	0	0	0	1	0	2	1	2	1	4	2	6	5	4	2	1	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr2:130877755T>C	ENST00000409914.2	-	3	733	c.334A>G	c.(334-336)Agc>Ggc	p.S112G	POTEF_ENST00000361163.4_Missense_Mutation_p.S112G|POTEF_ENST00000357462.5_Missense_Mutation_p.S112G|POTEF_ENST00000360967.5_Missense_Mutation_p.S112G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	112					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCTTGCTGCTCCCCCTGCAG	0.592																																					p.S112G													.	POTEF	140		0			c.A334G												41	66	58					2																	130877755		2181	4285	6466	SO:0001583	missense	728378	exon3			TGCTGCTCCCCCT	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.334A>G	2.37:g.130877755T>C	ENSP00000386786:p.Ser112Gly		184	0.0108695652	2		136	0.04	5	NM_001099771	0		0	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.35	1.325392	0.24080	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77877	-1.13;-1.13;1.69;1.7	0.351	0.351	0.16042	.	.	.	.	.	T	0.71221	0.3314	L	0.50333	1.59	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.64892	-0.6300	8	0.87932	D	0	.	.	.	.	.	112	A5A3E0	POTEF_HUMAN	G	112	ENSP00000350052:S112G;ENSP00000386786:S112G;ENSP00000354232:S112G;ENSP00000355012:S112G	ENSP00000350052:S112G	S	-	1	0	POTEF	130594225	0.003000	0.15002	0.021000	0.16686	0.027000	0.11550	0.047000	0.14056	0.366000	0.24427	0.076000	0.15429	AGC			0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331889.2		NM_001099771		C	130877755	T	C	130877755	3	2	117	1	0	0	0	0	1	0	0	0	12282	1551	54	4	2953	4	POTEF	2	130877755	Missense_Mutation	SNP	T	TCGA-XE-AAO3-01A-11D-A435-10	105221895	130877755	112321618	5	8737											
KYNU	8942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	143685255	143685255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtcatgaagtggggaaGcgtccttggattacaggaga	11	10	15	5	1	1	2	1	1	0	1	2	5	2	4	1	5	2	0	1	5	4	3			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr2:143685255G>A	ENST00000410015.2	+	4	408	c.318G>A	c.(316-318)aaG>aaA	p.K106K	KYNU_ENST00000409512.1_Silent_p.K106K|KYNU_ENST00000264170.4_Silent_p.K106K|KYNU_ENST00000375773.2_Silent_p.K106K					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AAGTGGGGAAGCGTCCTTGGA	0.368																																					p.K106K													.	.			0			c.G318A												206	193	197					2																	143685255		2203	4300	6503	SO:0001819	synonymous_variant	8942	exon5			GGGGAAGCGTCCT	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	ENST00000410015.2:c.318G>A	2.37:g.143685255G>A			158	0	0		107	0.19	20	NM_001199241	9	0.11	1		Silent	SNP	ENST00000410015.2	37																																																																																						0.368	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000332172.2		NM_001032998		A	143685255	G	A	143685255	2	1	117	1	0	0	0	0	0	0	0	1	8602	962	34	2		2	KYNU	2	143685255	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	12807500	143685255	99514118	6	8738											
HOXD11	3237	mdanderson.org	37	chr2	176972598	176972598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcgcggtgggccgcaatgGcatcttgccacagggcttcg	6	7	15	13	4	1	0	0	0	1	0	2	0	1	0	2	4	2	3	2	4	1	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr2:176972598G>A	ENST00000249504.5	+	1	585	c.515G>A	c.(514-516)gGc>gAc	p.G172D	AC009336.1_ENST00000401374.2_RNA|HOXD11_ENST00000498438.1_Intron	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	172					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GGCCGCAATGGCATCTTGCCA	0.766			T	NUP98	AML																																p.G172D				Dom	yes		2	2q31-q32	3237	homeo box D11		L	.	.			0			c.G515A												2	3	3					2																	176972598		1011	1985	2996	SO:0001583	missense	3237	exon1			GCAATGGCATCTT		CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"Homeoboxes / ANTP class : HOXL subclass"	5134	protein-coding gene	gene with protein product		142986	"homeo box D11"	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.515G>A	2.37:g.176972598G>A	ENSP00000249504:p.Gly172Asp		24	0	0		36	0.08	3	NM_021192	0		0	A6NIS4|Q9NS02	Missense_Mutation	SNP	ENST00000249504.5	37	CCDS2265.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104093	0.76983	.	.	ENSG00000128713	ENST00000249504	T	0.56941	0.43	2.71	2.71	0.32032	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.195954	0.24831	U	0.035249	T	0.67097	0.2857	M	0.63843	1.955	0.51482	D	0.999928	D	0.89917	1.0	D	0.81914	0.995	T	0.69796	-0.5048	10	0.52906	T	0.07	.	13.2214	0.59890	0.0:0.0:1.0:0.0	.	172	P31277	HXD11_HUMAN	D	172	ENSP00000249504:G172D	ENSP00000249504:G172D	G	+	2	0	HOXD11	176680844	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.280000	0.78610	1.363000	0.46019	0.530000	0.56133	GGC			0.766	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359250.2				A	176972598	G	A	176972598	3	1	117	1	0	0	0	0	1	0	0	0	7335	1203	42	2	517	2	HOXD11	2	176972598	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	33287343	176972598	66226775	7	8739											
UBE2E1	7324	broad.mit.edu	37	chr3	23848778	23848778	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgtcggatgacgattcGagggccagcaccagctcctc	8	8	12	13	3	0	1	0	1	0	0	4	4	1	2	3	2	2	3	3	2	1	2	rs140553923		TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr3:23848778G>T	ENST00000306627.3	+	2	237	c.18G>T	c.(16-18)tcG>tcT	p.S6S	UBE2E1-AS1_ENST00000426702.1_RNA|UBE2E1_ENST00000346855.3_Silent_p.S6S	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	6					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						ATGACGATTCGAGGGCCAGCA	0.542																																					p.S6S													.	UBE2E1	15		0			c.G18T												81	81	81					3																	23848778		2203	4300	6503	SO:0001819	synonymous_variant	7324	exon2			CGATTCGAGGGCC	X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"Ubiquitin-conjugating enzymes E2"	12477	protein-coding gene	gene with protein product		602916	"ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.18G>T	3.37:g.23848778G>T			93	0	0		69	0.04	3	NM_003341	164	0	0	B2RBX4|C9J8K2|K4DI90	Silent	SNP	ENST00000306627.3	37	CCDS2638.1																																																																																					0.542	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252882.2		NM_003341		T	23848778	G	T	23848778	2	4	117	1	0	0	0	0	0	0	0	1	16876	1045	37	1		1	UBE2E1	3	23848778	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		23848778	174173652	8	8740											
GOLGB1	2804	broad.mit.edu	37	chr3	121395740	121395740	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctaacaagaaacacttacGttgctgttcagttgctgaat	12	13	8	8	1	2	2	1	1	1	1	2	2	2	2	0	0	5	5	0	0	5	5			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr3:121395740G>T	ENST00000340645.5	-	17	9287	c.9162C>A	c.(9160-9162)aaC>aaA	p.N3054K	GOLGB1_ENST00000393667.3_Splice_Site_p.N3059K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3054					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)		AAACACTTACGTTGCTGTTCA	0.403																																					p.N3059K													.	GOLGB1	319		0			c.C9177A												164	152	156					3																	121395740		2203	4300	6503	SO:0001630	splice_region_variant	2804	exon17			ACTTACGTTGCTG	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.9162+1C>A	3.37:g.121395740G>T			153	0	0		171	0.04	6	NM_001256486	156	0.01	1	B2ZZ91|D3DN92|E7EP74|Q14398	Splice_Site	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.395420	0.01175	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.06371	3.32;3.31	5.46	2.77	0.32553	.	0.097949	0.44902	N	0.000420	T	0.01765	0.0056	N	0.00926	-1.1	0.24446	N	0.994506	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46386	-0.9195	9	.	.	.	.	5.5906	0.17299	0.0:0.6659:0.163:0.1712	.	3059;3059;3054	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	K	3054;3059	ENSP00000341848:N3054K;ENSP00000377275:N3059K	.	N	-	3	2	GOLGB1	122878430	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	1.406000	0.34646	0.450000	0.26774	-0.749000	0.03505	AAC			0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000355159.1		NM_004487	Missense_Mutation	T	121395740	G	T	121395740	5	4	117	1	0	0	0	0	0	0	1	0	6579	1159	40	1	641	1	GOLGB1	3	121395740	Splice_Site	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	97546962	121395740	76626690	9	8741											
KALRN	8997	broad.mit.edu	37	chr3	124438155	124438155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacagcagccacatgcttGcagcatccatggctgcagcc	9	6	9	17	0	0	0	0	0	0	0	1	0	1	0	4	1	7	6	4	1	0	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr3:124438155G>T	ENST00000291478.5	+	27	3871	c.3708G>T	c.(3706-3708)ttG>ttT	p.L1236F	KALRN_ENST00000360013.3_Missense_Mutation_p.L2933F|KALRN_ENST00000428018.2_Missense_Mutation_p.L1204F	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2932					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCACATGCTTGCAGCATCCAT	0.527																																					p.L2933F													.	KALRN	556		0			c.G8799T												49	52	51					3																	124438155		2203	4300	6503	SO:0001583	missense	8997	exon60			ATGCTTGCAGCAT	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3708G>T	3.37:g.124438155G>T	ENSP00000291478:p.Leu1236Phe		120	0	0		124	0.03	4	NM_001024660	1	0	0	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.26|13.26	2.182682|2.182682	0.38511|0.38511	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000291478;ENST00000428018	.|T;T;T	.|0.52526	.|0.66;0.66;0.66	5.3|5.3	-0.568|-0.568	0.11760|0.11760	.|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	.|0.000015	T|T	0.61388|0.61388	0.2343|0.2343	M|M	0.76170|0.76170	2.325|2.325	0.30373|0.30373	N|N	0.782687|0.782687	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.60357|0.60357	-0.7279|-0.7279	5|10	.|0.62326	.|D	.|0.03	.|.	7.9094|7.9094	0.29782|0.29782	0.343:0.1067:0.5503:0.0|0.343:0.1067:0.5503:0.0	.|.	.|1236;2932	.|C9JQ37;O60229	.|.;KALRN_HUMAN	F|F	2902|2933;1236;1204	.|ENSP00000353109:L2933F;ENSP00000291478:L1236F;ENSP00000402419:L1204F	.|ENSP00000291478:L1236F	C|L	+|+	2|3	0|2	KALRN|KALRN	125920845|125920845	0.999000|0.999000	0.42202|0.42202	0.993000|0.993000	0.49108|0.49108	0.477000|0.477000	0.33069|0.33069	0.433000|0.433000	0.21477|0.21477	-0.298000|-0.298000	0.08921|0.08921	-1.627000|-1.627000	0.00785|0.00785	TGC|TTG			0.527	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000246891.5		NM_003947		T	124438155	G	T	124438155	3	4	117	1	0	0	0	0	1	0	0	0	7990	1310	46	2	9193	2	KALRN	3	124438155	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	3042415	124438155	73584275	10	8742											
ATP11B	23200	broad.mit.edu	37	chr3	182598724	182598724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacattggctgttggtgatGgtgctaatgacgtaagcatg	10	13	13	5	1	0	2	0	2	0	0	0	2	0	2	0	3	3	5	0	3	3	5			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr3:182598724G>T	ENST00000323116.5	+	21	2724	c.2464G>T	c.(2464-2466)Ggt>Tgt	p.G822C		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	822					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGTTGGTGATGGTGCTAATGA	0.343																																					p.G822C													.	ATP11B	115		0			c.G2464T												123	123	123					3																	182598724		2203	4300	6503	SO:0001583	missense	23200	exon21			GGTGATGGTGCTA	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2464G>T	3.37:g.182598724G>T	ENSP00000321195:p.Gly822Cys		418	0	0		405	0.01	6	NM_014616	16	0	0	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.668211|4.668211	0.88348|0.88348	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000482070|ENST00000498086	T;T|.	0.66638|.	-0.22;-0.22|.	5.45|5.45	5.45|5.45	0.79879|0.79879	HAD-like domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91597|0.91597	0.7345|0.7345	H|H	0.99286|0.99286	4.5|4.5	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|D	0.95042|0.95042	0.8179|0.8179	10|5	0.87932|.	D|.	0|.	.|.	19.2773|19.2773	0.94038|0.94038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	396;822|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	C|I	822;57|622	ENSP00000321195:G822C;ENSP00000417124:G57C|.	ENSP00000321195:G822C|.	G|M	+|+	1|3	0|0	ATP11B|ATP11B	184081418|184081418	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.390000|9.390000	0.97246|0.97246	2.538000|2.538000	0.85594|0.85594	0.585000|0.585000	0.79938|0.79938	GGT|ATG			0.343	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350598.1		NM_014616		T	182598724	G	T	182598724	3	4	117	1	0	0	0	0	1	0	0	0	1120	1348	47	3	2546	3	ATP11B	3	182598724	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	58160569	182598724	15423706	11	8743											
MARCH6	10299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	10415633	10415633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttaatgtcgttttggaCggggactgccaaaatccatg	9	13	12	7	2	0	0	0	0	0	0	2	2	1	2	2	4	1	2	2	4	3	4	rs182494860	byFrequency	TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr5:10415633C>G	ENST00000274140.5	+	21	2132	c.2000C>G	c.(1999-2001)aCg>aGg	p.T667R	MARCH6_ENST00000449913.2_Missense_Mutation_p.T619R|MARCH6_ENST00000510792.1_Missense_Mutation_p.T365R|MARCH6_ENST00000503788.1_Missense_Mutation_p.T562R	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	667					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)	p.T667M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCGTTTTGGACGGGGACTGCC	0.453																																					p.T667R													MARCH6,caecum,carcinoma,0,1	MARCH6	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C2000G												272	241	252					5																	10415633		2203	4300	6503	SO:0001583	missense	10299	exon21			TTTGGACGGGGAC	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.2000C>G	5.37:g.10415633C>G	ENSP00000274140:p.Thr667Arg		163	0	0		110	0.35	39	NM_005885	41	0.44	18	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300501	0.81136	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.6	5.6	0.85130	.	0.049301	0.85682	D	0.000000	T	0.46328	0.1387	M	0.69358	2.11	0.80722	D	1	D;P;P;P	0.56521	0.976;0.746;0.899;0.697	P;B;B;B	0.52881	0.712;0.163;0.416;0.113	T	0.21314	-1.0249	10	0.21540	T	0.41	-17.5761	19.6218	0.95660	0.0:1.0:0.0:0.0	.	562;619;247;667	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	R	619;562;667;365	ENSP00000414643:T619R;ENSP00000425930:T562R;ENSP00000274140:T667R;ENSP00000424512:T365R	ENSP00000274140:T667R	T	+	2	0	MARCH6	10468633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.678000	0.61641	2.625000	0.88918	0.563000	0.77884	ACG			0.453	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366919.2		NM_005885		G	10415633	C	G	10415633	3	3	117	1	0	0	0	0	1	0	0	0	9321	536	19	5	2082	5	MARCH6	5	10415633	Missense_Mutation	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10		10415633	170499627	12	8744											
GPR98	84059	mdanderson.org	37	chr5	90103520	90103520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttcacctatcaggaGtgcagagcagtgctcctggc	7	12	11	11	0	3	1	2	0	1	1	4	2	4	2	2	2	3	4	2	2	1	4			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr5:90103520G>T	ENST00000405460.2	+	73	15034	c.14938G>T	c.(14938-14940)Gtg>Ttg	p.V4980L	GPR98_ENST00000425867.2_Missense_Mutation_p.V641L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4980					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)		CCTATCAGGAGTGCAGAGCAG	0.488																																					p.V4980L													.	.			0			c.G14938T												65	63	64					5																	90103520		1854	4100	5954	SO:0001583	missense	84059	exon73			TCAGGAGTGCAGA	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.14938G>T	5.37:g.90103520G>T	ENSP00000384582:p.Val4980Leu		81	0	0		49	0.06	3	NM_032119	7	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245170	0.22796	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.32988	1.64;1.43	5.76	2.97	0.34412	.	0.307601	0.36134	N	0.002767	T	0.18299	0.0439	L	0.28192	0.835	0.23227	N	0.998087	B;B;B	0.19583	0.022;0.026;0.037	B;B;B	0.16722	0.007;0.015;0.016	T	0.21415	-1.0246	9	.	.	.	.	7.3877	0.26893	0.1409:0.269:0.5902:0.0	.	641;4980;641	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	L	4980;4980;641	ENSP00000384582:V4980L;ENSP00000392618:V641L	.	V	+	1	0	GPR98	90139276	0.989000	0.36119	0.369000	0.25952	0.299000	0.27559	2.021000	0.41020	0.334000	0.23590	0.655000	0.94253	GTG			0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369993.2		NM_032119		T	90103520	G	T	90103520	3	4	117	1	0	0	0	0	1	0	0	0	6736	1029	36	3	15228	3	GPR98	5	90103520	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	79687887	90103520	90811740	13	8745											
ANKRD32	84250	mdanderson.org	37	chr5	94024244	94024244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagccttggggaaaactGgtgtgcttgggtctggaaag	9	10	15	7	0	1	0	0	0	1	0	1	2	1	2	2	5	4	1	2	5	4	3			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr5:94024244G>T	ENST00000265140.5	+	17	2574	c.2155G>T	c.(2155-2157)Ggt>Tgt	p.G719C		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	719						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GGGGAAAACTGGTGTGCTTGG	0.363																																					p.G719C													.	.			0			c.G2155T												100	102	101					5																	94024244		2203	4300	6503	SO:0001583	missense	84250	exon17			AAAACTGGTGTGC	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2155G>T	5.37:g.94024244G>T	ENSP00000265140:p.Gly719Cys		152	0.0065789474	1		101	0.05	5	NM_032290	39	0	0	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379180	0.61735	.	.	ENSG00000133302	ENST00000265140	T	0.48201	0.82	5.36	2.58	0.30949	.	0.688880	0.14227	N	0.333038	T	0.44953	0.1318	L	0.29908	0.895	0.20563	N	0.999884	D	0.64830	0.994	P	0.54401	0.751	T	0.21518	-1.0243	10	0.59425	D	0.04	.	7.2128	0.25943	0.2003:0.0:0.6777:0.1221	.	719	Q9BQI6	ANR32_HUMAN	C	719	ENSP00000265140:G719C	ENSP00000265140:G719C	G	+	1	0	ANKRD32	94050000	1.000000	0.71417	0.984000	0.44739	0.930000	0.56654	2.270000	0.43355	0.755000	0.32990	0.585000	0.79938	GGT			0.363	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241610.1		NM_032290		T	94024244	G	T	94024244	3	4	117	1	0	0	0	0	1	0	0	0	660	1348	47	3	2217	3	ANKRD32	5	94024244	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	3920724	94024244	86891016	14	8746											
SKIV2L	6499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31936112	31936112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctccctcttcaggaaggatCctccccttgcagccgtgacc	6	9	9	17	1	2	1	1	1	1	0	5	3	5	3	6	2	2	2	6	2	1	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr6:31936112C>T	ENST00000375394.2	+	24	2979	c.2866C>T	c.(2866-2868)Cct>Tct	p.P956S	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.P763S	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	956					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAGGAAGGATCCTCCCCTTGC	0.597																																					p.P956S													.	.			0			c.C2866T												106	127	119					6																	31936112		1508	2707	4215	SO:0001583	missense	6499	exon24			AAGGATCCTCCCC		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2866C>T	6.37:g.31936112C>T	ENSP00000364543:p.Pro956Ser		75	0	0		70	0.21	15	NM_006929	90	0.11	10	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481563	0.44147	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.39997	1.05;1.05	5.24	4.37	0.52481	.	0.048593	0.85682	N	0.000000	T	0.25568	0.0622	L	0.56769	1.78	0.80722	D	1	P	0.34934	0.476	B	0.36378	0.223	T	0.05801	-1.0863	10	0.30078	T	0.28	-14.2188	13.2276	0.59922	0.0:0.9211:0.0:0.0789	.	956	Q15477	SKIV2_HUMAN	S	956;798;763	ENSP00000364543:P956S;ENSP00000442645:P763S	ENSP00000364543:P956S	P	+	1	0	SKIV2L	32044091	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	6.490000	0.73645	1.340000	0.45581	0.655000	0.94253	CCT			0.597	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076264.3				T	31936112	C	T	31936112	3	4	117	1	0	0	0	0	1	0	0	0	14382	855	30	3	2960	3	SKIV2L	6	31936112	Missense_Mutation	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10		31936112	139178955	15	8747											
SYNCRIP	10492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	86346826	86346826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatggaacaagttcatcCtcaaatagatctcttgggat	15	12	7	7	0	3	1	2	0	1	1	5	3	4	3	1	2	1	1	1	2	6	4			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr6:86346826C>T	ENST00000369622.3	-	6	1025	c.525G>A	c.(523-525)gaG>gaA	p.E175E	SYNCRIP_ENST00000355238.6_Silent_p.E175E	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	175	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		CAAGTTCATCCTCAAATAGAT	0.368																																					p.E175E													SYNCRIP,right_upper_lobe,carcinoma,-2,2	SYNCRIP	-2	2	0			c.G525A												52	50	51					6																	86346826		2203	4300	6503	SO:0001819	synonymous_variant	10492	exon6			TTCATCCTCAAAT	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.525G>A	6.37:g.86346826C>T			232	0	0		257	0.24	62	NM_006372	245	0.19	47	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	CCDS5005.1																																																																																					0.368	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041396.1		NM_006372		T	86346826	C	T	86346826	2	4	117	1	0	0	0	0	0	0	0	1	15467	680	24	3		3	SYNCRIP	6	86346826	Silent	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10	54410714	86346826	84768241	16	8748											
VPS41	27072	mdanderson.org	37	chr7	38902196	38902196	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaagtaaataaaccttGccataatgtgtgcccaatgc	15	10	6	10	0	1	0	1	0	0	0	1	0	1	0	3	0	4	1	3	0	7	4	rs187909170		TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr7:38902196G>T	ENST00000310301.4	-	4	249	c.195C>A	c.(193-195)ggC>ggA	p.G65G	VPS41_ENST00000395969.2_Silent_p.G65G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	65					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						AATAAACCTTGCCATAATGTG	0.308																																					p.G65G													.	.			0			c.C195A												82	83	82					7																	38902196		2203	4300	6503	SO:0001819	synonymous_variant	27072	exon4			AACCTTGCCATAA	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.195C>A	7.37:g.38902196G>T			72	0	0		127	0.04	5	NM_080631	45	0	0	E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	CCDS5457.1																																																																																					0.308	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226986.3				T	38902196	G	T	38902196	2	4	117	1	0	0	0	0	0	0	0	1	17234	1306	46	2		2	VPS41	7	38902196	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		38902196	120236467	17	8749											
TAS2R40	259286	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	142919837	142919838	+	Frame_Shift_Del	DEL	AC	AC	-																															ctgatcctctctctcaagagAcacaccctacacatgggaag																										TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	AC	AC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr7:142919837_142919838delAC	ENST00000408947.3	+	1	708_709	c.666_667delAC	c.(664-669)agacacfs	p.H223fs	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	223					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)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTCTCAAGAGACACACCCTACA	0.51																																					p.222_222del													.	TAS2R40	64		0			c.665_666del																																									SO:0001589	frameshift_variant	259286	exon1			CAAGAGACACACC	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18885	protein-coding gene	gene with protein product		613964	"G protein-coupled receptor 60"	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.666_667delAC	7.37:g.142919841_142919842delAC	ENSP00000386210:p.His223fs		70	0	0		103	0.22	23	NM_176882	0		0	A4D2I2|Q645W6	Frame_Shift_Del	DEL	ENST00000408947.3	37	CCDS43662.1																																																																																					0.51	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327097.1				-	142919838	AC	-	142919837	7	5	117	1	0	1	0	1	0	0	0	0	15601	272	10	0	668	0	TAS2R40	7	142919837	Frame_Shift_Del	DEL	AC	TCGA-XE-AAO3-01A-11D-A435-10	104017641	142919837	16218826	18	8750											
SSPO	23145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	149486702	149486702	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagggcaggtgacctgCgtccccggggaggtgtcctg	4	8	18	11	2	0	1	0	1	0	0	2	2	2	2	4	5	2	2	4	5	0	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr7:149486702C>T	ENST00000378016.2	+	0	4476							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)			AGGTGACCTGCGTCCCCGGGG	0.632																																					p.C1492C													.	.			0			c.C4476T												23	27	26					7																	149486702		1947	4126	6073			23145	exon31			GACCTGCGTCCCC	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.149486702C>T			62	0	0		80	0.23	18	NM_198455	0		0	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																						0.632	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript						T	149486702	C	T	149486702	1	4	117	0	1	0	0	0	0	0	0	0	15212	776	27	1		1	SSPO	7	149486702	RNA	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10	6566865	149486702	9651961	19	8751											
DUSP26	78986	broad.mit.edu	37	chr8	33449599	33449599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaggaagccccggttggGgatgatgcctcggtggtctt	5	10	15	11	2	2	1	1	1	1	0	3	3	2	3	4	6	2	1	4	6	1	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr8:33449599G>T	ENST00000256261.4	-	4	1085	c.568C>A	c.(568-570)Ccc>Acc	p.P190T	DUSP26_ENST00000523956.1_Missense_Mutation_p.P190T	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	190	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CCCCGGTTGGGGATGATGCCT	0.647																																					p.P190T													.	DUSP26	42		0			c.C568A												94	88	90					8																	33449599		2203	4300	6503	SO:0001583	missense	78986	exon4			GGTTGGGGATGAT	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.568C>A	8.37:g.33449599G>T	ENSP00000256261:p.Pro190Thr		138	0	0		193	0.02	4	NM_024025	0		0	D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721519	0.89298	.	.	ENSG00000133878	ENST00000256261;ENST00000523956	T;T	0.63580	-0.05;-0.05	4.8	4.8	0.61643	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	H	0.99391	4.545	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93943	0.7225	10	0.87932	D	0	-51.1467	17.8245	0.88660	0.0:0.0:1.0:0.0	.	190	Q9BV47	DUS26_HUMAN	T	190	ENSP00000256261:P190T;ENSP00000429176:P190T	ENSP00000256261:P190T	P	-	1	0	DUSP26	33569141	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.388000	0.81334	0.549000	0.68633	CCC			0.647	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376564.1		NM_024025		T	33449599	G	T	33449599	3	4	117	1	0	0	0	0	1	0	0	0	4828	1232	43	3	71	3	DUSP26	8	33449599	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		33449599	112914423	20	8752											
VPS13B	157680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	100733195	100733195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacctagagtactcaccCttgtacgaataactcctgta	13	10	6	12	1	1	2	1	0	0	2	2	3	2	2	3	0	4	3	3	0	7	6			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr8:100733195C>T	ENST00000358544.2	+	39	7156	c.7045C>T	c.(7045-7047)Ctt>Ttt	p.L2349F	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2324F|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2349					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)			AGTACTCACCCTTGTACGAAT	0.403																																					p.L2349F	Colon(161;2205 2542 7338 31318)												.	.			0			c.C7045T												110	102	104					8																	100733195		2203	4300	6503	SO:0001583	missense	157680	exon39			CTCACCCTTGTAC	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.7045C>T	8.37:g.100733195C>T	ENSP00000351346:p.Leu2349Phe		118	0	0		128	0.18	23	NM_017890	7	0.43	3	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360816	0.61403	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69175	-0.38;-0.38	6.03	6.03	0.97812	.	0.070983	0.56097	D	0.000026	T	0.57242	0.2040	N	0.22421	0.69	0.80722	D	1	B;B	0.21606	0.058;0.034	B;B	0.20184	0.028;0.012	T	0.48525	-0.9028	10	0.32370	T	0.25	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	2324;2349	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	F	2324;2349	ENSP00000349685:L2324F;ENSP00000351346:L2349F	ENSP00000349685:L2324F	L	+	1	0	VPS13B	100802371	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	3.053000	0.49901	2.861000	0.98227	0.655000	0.94253	CTT			0.403	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000277138.1		NM_184042		T	100733195	C	T	100733195	3	4	117	1	0	0	0	0	1	0	0	0	17214	681	24	3	7389	3	VPS13B	8	100733195	Missense_Mutation	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10	67283596	100733195	45630827	21	8753											
KIAA0020	9933	broad.mit.edu	37	chr9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgaactgctttacacccTttttcccaagttttgtgata	8	18	5	10	0	1	2	0	2	1	0	2	2	2	2	2	0	3	2	2	0	4	8			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																					p.K63R													.	KIAA0020	56		0			c.A188G												259	237	244					9																	2837296		1837	4098	5935	SO:0001583	missense	9933	exon3			ACACCCTTTTTCC	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188A>G	9.37:g.2837296T>C	ENSP00000380982:p.Lys63Arg		180	0	0		147	0.02	3	NM_014878	297	0	0	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927712	0.18056	.	.	ENSG00000080608	ENST00000397885	T	0.12672	2.66	4.55	3.32	0.38043	.	0.404891	0.24027	N	0.042233	T	0.07369	0.0186	N	0.19112	0.55	0.22629	N	0.998913	B	0.10296	0.003	B	0.08055	0.003	T	0.24799	-1.0150	10	0.26408	T	0.33	-19.7444	5.606	0.17379	0.0:0.0997:0.2858:0.6145	.	63	Q15397	K0020_HUMAN	R	63	ENSP00000380982:K63R	ENSP00000380982:K63R	K	-	2	0	KIAA0020	2827296	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	1.577000	0.36515	2.041000	0.60428	0.528000	0.53228	AAG			0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051529.3		NM_014878		C	2837296	T	C	2837296	3	2	117	1	0	0	0	0	1	0	0	0	8167	1609	56	4	1822	4	KIAA0020	9	2837296	Missense_Mutation	SNP	T	TCGA-XE-AAO3-01A-11D-A435-10		2837296	138376135	22	8754											
GSN	2934	mdanderson.org	37	chr9	124088834	124088834	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcccacctcatgagcctGtttggtgggaagcccatgat	7	9	11	14	1	1	2	1	2	0	0	1	3	1	3	5	2	2	1	5	2	1	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr9:124088834G>T	ENST00000373818.4	+	12	1683	c.1614G>T	c.(1612-1614)ctG>ctT	p.L538L	GSN_ENST00000341272.2_Silent_p.L487L|GSN_ENST00000412819.1_Silent_p.L487L|GSN_ENST00000373823.3_Silent_p.L487L|GSN_ENST00000373808.2_Silent_p.L487L|GSN_ENST00000436847.1_Silent_p.L498L|GSN_ENST00000545652.1_Silent_p.L495L|GSN_ENST00000373806.1_5'Flank|GSN_ENST00000394353.2_Silent_p.L498L|GSN_ENST00000373807.1_Silent_p.L269L|GSN_ENST00000449733.1_Silent_p.L487L	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	538	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCATGAGCCTGTTTGGTGGGA	0.657																																					p.L538L													.	.			0			c.G1614T												49	46	47					9																	124088834		2203	4300	6503	SO:0001819	synonymous_variant	2934	exon12			GAGCCTGTTTGGT	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1614G>T	9.37:g.124088834G>T			85	0	0		84	0.05	4	NM_000177	128	0	0	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	CCDS6828.1																																																																																					0.657	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000053861.1		NM_000177		T	124088834	G	T	124088834	2	4	117	1	0	0	0	0	0	0	0	1	6840	1364	48	3		3	GSN	9	124088834	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	121251538	124088834	17124597	23	8755											
P4HA1	5033	hgsc.bcm.edu	37	chr10	74768046	74768046	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttcatggagccatttattGgatactgtgagagaaaagta	13	12	11	5	1	1	2	1	1	0	1	1	5	1	4	1	2	2	2	1	2	5	6			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr10:74768046G>T	ENST00000307116.2	-	15	1655	c.1539C>A	c.(1537-1539)tcC>tcA	p.S513S	P4HA1_ENST00000412021.2_Silent_p.S513S|P4HA1_ENST00000394890.2_Silent_p.S513S|P4HA1_ENST00000263556.3_Silent_p.S513S|P4HA1_ENST00000440381.1_Silent_p.S495S|P4HA1_ENST00000373008.2_Silent_p.S513S			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	513	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCCATTTATTGGATACTGTGA	0.343																																					p.S513S	Colon(147;367 2405 2662 52127)												.	.			0			c.C1539A												101	99	100					10																	74768046		2203	4300	6503	SO:0001819	synonymous_variant	5033	exon15			TTTATTGGATACT		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1539C>A	10.37:g.74768046G>T			87	0	0		114	0.06	7	NM_000917	180	0	0	C9JL12|Q15082|Q15083|Q5VSQ5	Silent	SNP	ENST00000307116.2	37																																																																																						0.343	P4HA1-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000048601.1		NM_000917		T	74768046	G	T	74768046	2	4	117	1	0	0	0	0	0	0	0	1	11373	1335	47	3		3	P4HA1	10	74768046	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		74768046	60766701	24	8756											
DENND5A	23258	mdanderson.org	37	chr11	9225755	9225755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcttcataaaatgtgaggGcaaacccaaatgtccgagag	14	8	9	10	1	2	2	1	1	1	1	3	3	3	2	3	1	1	1	3	1	4	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr11:9225755G>T	ENST00000328194.3	-	4	721	c.401C>A	c.(400-402)gCc>gAc	p.A134D	DENND5A_ENST00000530044.1_Missense_Mutation_p.A134D	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	134	UDENN.				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						AAATGTGAGGGCAAACCCAAA	0.512																																					p.A134D													.	.			0			c.C401A												130	104	113					11																	9225755		2201	4296	6497	SO:0001583	missense	23258	exon4			GTGAGGGCAAACC	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.401C>A	11.37:g.9225755G>T	ENSP00000328524:p.Ala134Asp		74	0	0		49	0.06	3	NM_001243254	37	0	0	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644895	0.87859	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.49720	0.77;0.77	5.57	5.57	0.84162	uDENN (3);	0.106561	0.64402	D	0.000004	T	0.64416	0.2596	M	0.71206	2.165	0.80722	D	1	P;B	0.40731	0.728;0.053	P;B	0.51550	0.673;0.261	T	0.66376	-0.5939	10	0.87932	D	0	.	19.555	0.95342	0.0:0.0:1.0:0.0	.	134;134	E9PS91;Q6IQ26	.;DEN5A_HUMAN	D	134	ENSP00000328524:A134D;ENSP00000435866:A134D	ENSP00000328524:A134D	A	-	2	0	DENND5A	9182331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.022000	0.88759	2.640000	0.89533	0.655000	0.94253	GCC			0.512	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385910.2		NM_015213		T	9225755	G	T	9225755	3	4	117	1	0	0	0	0	1	0	0	0	4441	1203	42	2	3542	2	DENND5A	11	9225755	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		9225755	125780761	25	8757											
LPXN	9404	mdanderson.org	37	chr11	58322361	58322361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgagctcatccaactgagCagctgctgacgttttagaag	11	10	10	10	1	1	4	1	3	0	1	2	4	2	4	1	0	5	5	1	0	3	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr11:58322361C>T	ENST00000395074.2	-	4	359	c.271G>A	c.(271-273)Gct>Act	p.A91T	LPXN_ENST00000528954.1_Missense_Mutation_p.A96T|LPXN_ENST00000528489.1_Missense_Mutation_p.A71T	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	91					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCCAACTGAGCAGCTGCTGAC	0.478																																					p.A96T													.	.			0			c.G286A												156	141	146					11																	58322361		2201	4295	6496	SO:0001583	missense	9404	exon4			ACTGAGCAGCTGC	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.271G>A	11.37:g.58322361C>T	ENSP00000378512:p.Ala91Thr		55	0	0		46	0.07	3	NM_001143995	27	0	0	B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883880	0.51908	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.30448	1.53;1.53	5.74	1.71	0.24356	.	0.364726	0.27754	N	0.017999	T	0.24812	0.0602	M	0.73598	2.24	0.09310	N	0.99999	B;B;B	0.28998	0.001;0.001;0.23	B;B;B	0.24006	0.002;0.003;0.05	T	0.26052	-1.0114	10	0.13108	T	0.6	.	4.6292	0.12493	0.1512:0.6043:0.0:0.2445	.	71;96;91	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	T	96;91	ENSP00000431284:A96T;ENSP00000378512:A91T	ENSP00000378512:A91T	A	-	1	0	LPXN	58078937	0.000000	0.05858	0.178000	0.23040	0.885000	0.51271	0.097000	0.15168	0.058000	0.16222	0.563000	0.77884	GCT			0.478	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000394709.1		NM_004811		T	58322361	C	T	58322361	3	4	117	1	0	0	0	0	1	0	0	0	8945	710	25	2	913	2	LPXN	11	58322361	Missense_Mutation	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10	49096606	58322361	76684155	26	8758											
MS4A13	503497	mdanderson.org	37	chr11	60285575	60285575	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgattggcatctttcacAttttcatgtggtactttcta	8	20	6	7	0	4	1	2	1	2	0	4	1	4	1	0	2	1	2	0	2	3	8	rs10736706	byFrequency	TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr11:60285575A>T	ENST00000527948.1	+	2	577	c.19A>T	c.(19-21)Att>Ttt	p.I7F	MS4A13_ENST00000437058.2_Missense_Mutation_p.I7F|MS4A13_ENST00000378185.2_Missense_Mutation_p.I7F|MS4A13_ENST00000378186.2_Missense_Mutation_p.I7F			Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	0						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						CATCTTTCACATTTTCATGTG	0.318																																					p.I7F													.	.			0			c.A19T												117	114	115					11																	60285575		2203	4300	6503	SO:0001583	missense	503497	exon3			TTTCACATTTTCA	AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000527948.1:c.19A>T	11.37:g.60285575A>T	ENSP00000432713:p.Ile7Phe		87	0	0		59	0.03	2	NM_001100909	0		0	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000527948.1	37		.	.	.	.	.	.	.	.	.	.	G	6.930	0.541380	0.13250	.	.	ENSG00000204979	ENST00000378186;ENST00000378185;ENST00000437058;ENST00000527948	T;T;T;T	0.35789	4.28;1.71;1.29;1.3	5.65	-2.11	0.07187	.	0.755505	0.11745	N	0.533590	T	0.17492	0.0420	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.21177	-1.0253	10	0.72032	D	0.01	-8.5856	0.9084	0.01289	0.3129:0.1122:0.3452:0.2297	.	7;7;7	Q5J8X5-3;Q5J8X5-2;Q5J8X5	.;.;M4A13_HUMAN	F	7	ENSP00000367428:I7F;ENSP00000367427:I7F;ENSP00000415535:I7F;ENSP00000432713:I7F	ENSP00000367427:I7F	I	+	1	0	MS4A13	60042151	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.024000	0.13555	-0.233000	0.09797	-1.918000	0.00516	ATT			0.318	MS4A13-003	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000395411.1		NM_001012417		T	60285575	A	T	60285575	3	4	117	1	0	0	0	0	1	0	0	0	9873	217	8	5	21	5	MS4A13	11	60285575	Missense_Mutation	SNP	A	TCGA-XE-AAO3-01A-11D-A435-10	1963214	60285575	74720941	27	8759											
GPR44	11251	mdanderson.org	37	chr11	60621017	60621017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccacggtctggcgcatgCggcagcccaccacgaagagg	9	4	14	14	4	1	2	0	1	1	1	1	3	1	2	3	4	2	2	3	4	1	0	rs145143849		TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr11:60621017C>T	ENST00000332539.4	-	2	290	c.179G>A	c.(178-180)cGc>cAc	p.R60H	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	60					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	CTGGCGCATGCGGCAGCCCAC	0.657																																					p.R60H													.	.			0			c.G179A												47	36	40					11																	60621017		2186	4267	6453	SO:0001583	missense	11251	exon2			CGCATGCGGCAGC	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.179G>A	11.37:g.60621017C>T	ENSP00000332812:p.Arg60His		58	0	0		43	0.07	3	NM_004778	1	0	0	O94765|Q4QRI6	Missense_Mutation	SNP	ENST00000332539.4	37	CCDS7994.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427557	0.43122	.	.	ENSG00000183134	ENST00000332539	T	0.41065	1.01	4.63	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.165147	0.40728	U	0.001039	T	0.27663	0.0680	L	0.31065	0.9	0.30349	N	0.784936	B	0.15930	0.015	B	0.13407	0.009	T	0.10042	-1.0647	10	0.40728	T	0.16	.	7.2598	0.26197	0.0:0.8036:0.0:0.1964	.	60	Q9Y5Y4	GPR44_HUMAN	H	60	ENSP00000332812:R60H	ENSP00000332812:R60H	R	-	2	0	GPR44	60377593	0.017000	0.18338	1.000000	0.80357	0.994000	0.84299	0.478000	0.22212	2.409000	0.81822	0.561000	0.74099	CGC			0.657	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396328.1		NM_004778		T	60621017	C	T	60621017	3	4	117	1	0	0	0	0	1	0	0	0	6709	768	27	1	1012	1	GPR44	11	60621017	Missense_Mutation	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10	335442	60621017	74385499	28	8760											
MYO7A	4647	mdanderson.org	37	chr11	76891521	76891521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggaggccgagcgcaaGcatcaggtgagctgagagcc	12	3	17	9	2	1	2	1	2	0	1	1	6	1	4	2	4	4	3	2	4	2	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr11:76891521G>T	ENST00000409709.3	+	22	2960	c.2688G>T	c.(2686-2688)aaG>aaT	p.K896N	MYO7A_ENST00000458637.2_Missense_Mutation_p.K896N|MYO7A_ENST00000409619.2_Missense_Mutation_p.K885N|MYO7A_ENST00000409893.1_Missense_Mutation_p.K896N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	896					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						CCGAGCGCAAGCATCAGGTGA	0.622																																					p.K896N													.	.			0			c.G2688T												31	39	36					11																	76891521		2126	4224	6350	SO:0001583	missense	4647	exon22			GCGCAAGCATCAG	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.2688G>T	11.37:g.76891521G>T	ENSP00000386331:p.Lys896Asn		35	0	0		31	0.1	3	NM_001127179	3	0	0	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	9.989	1.230345	0.22542	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.88818	-2.37;-2.43;-2.37;-2.39;-2.14	5.31	2.38	0.29361	.	0.115221	0.56097	D	0.000023	T	0.77579	0.4151	N	0.20881	0.62	0.41869	D	0.990263	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.002;0.002;0.003;0.001	T	0.67616	-0.5625	10	0.17832	T	0.49	.	8.2132	0.31496	0.3592:0.0:0.6408:0.0	.	896;885;896;896	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	N	896;896;896;885;107;895;895;772;895;77	ENSP00000386331:K896N;ENSP00000386689:K896N;ENSP00000392185:K896N;ENSP00000386635:K885N;ENSP00000417017:K77N	ENSP00000345075:K772N	K	+	3	2	MYO7A	76569169	0.985000	0.35326	1.000000	0.80357	0.935000	0.57460	0.193000	0.17116	1.234000	0.43709	0.448000	0.29417	AAG			0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000328133.1		NM_000260		T	76891521	G	T	76891521	3	4	117	1	0	0	0	0	1	0	0	0	10098	962	34	2	2770	2	MYO7A	11	76891521	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	16270504	76891521	58114995	29	8761											
ARHGAP20	57569	mdanderson.org	37	chr11	110561320	110561320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggataagagatggagcGctcctcctcctttctgctag	8	11	10	12	1	1	1	0	0	1	1	5	4	5	3	4	2	2	2	4	2	2	3	rs150049858	byFrequency	TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr11:110561320G>A	ENST00000260283.4	-	3	422	c.138C>T	c.(136-138)agC>agT	p.S46S	ARHGAP20_ENST00000357139.3_Silent_p.S20S|ARHGAP20_ENST00000528829.1_Silent_p.S10S|ARHGAP20_ENST00000533353.1_Silent_p.S20S|ARHGAP20_ENST00000524756.1_Silent_p.S23S|ARHGAP20_ENST00000527598.1_Silent_p.S10S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	46					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S46S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGATGGAGCGCTCCTCCTCC	0.388																																					p.S46S													ARHGAP20,caecum,carcinoma,0,1	ARHGAP20	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T							G		4,4398	8.1+/-20.4	0,4,2197	122	103	110		138	-3.6	0.9	11	dbSNP_134	110	0,8594		0,0,4297	yes	coding-synonymous	ARHGAP20	NM_020809.2		0,4,6494	AA,AG,GG		0.0,0.0909,0.0308		46/1192	110561320	4,12992	2201	4297	6498	SO:0001819	synonymous_variant	57569	exon3			TGGAGCGCTCCTC	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.138C>T	11.37:g.110561320G>A			84	0	0		64	0.06	4	NM_020809	0		0	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	CCDS31673.1																																																																																			0.001		0.388	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390628.1		NM_020809		A	110561320	G	A	110561320	2	1	117	1	0	0	0	0	0	0	0	1	870	1078	38	1		1	ARHGAP20	11	110561320	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	33669799	110561320	24445196	30	8762											
HTR3A	3359	mdanderson.org	37	chr11	113854000	113854000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgaccttcaccagttGgctgcacaccagtgagtatg	8	10	10	13	1	1	2	1	2	0	0	2	2	1	2	3	1	1	5	3	1	1	3			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr11:113854000G>T	ENST00000504030.2	+	5	978	c.533G>T	c.(532-534)tGg>tTg	p.W178L	HTR3A_ENST00000355556.2_Missense_Mutation_p.W184L|HTR3A_ENST00000375498.2_Missense_Mutation_p.W184L|HTR3A_ENST00000299961.5_Missense_Mutation_p.W163L|HTR3A_ENST00000506841.2_Missense_Mutation_p.W178L|HTR3A_ENST00000535865.1_5'UTR			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	178					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)	TTCACCAGTTGGCTGCACACC	0.607																																					p.W184L													.	.			0			c.G551T												157	146	149					11																	113854000		2201	4296	6497	SO:0001583	missense	3359	exon5			CCAGTTGGCTGCA	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.533G>T	11.37:g.113854000G>T	ENSP00000424189:p.Trp178Leu		86	0	0		44	0.07	3	NM_000869	0		0	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.296521	0.81025	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.37	3.41	0.39046	.	0.056922	0.85682	D	0.000000	D	0.87301	0.6143	M	0.85099	2.735	0.80722	D	1	P;B;D	0.55605	0.933;0.036;0.972	P;B;P	0.61275	0.825;0.06;0.886	D	0.89778	0.3959	10	0.87932	D	0	-18.7677	14.5467	0.68035	0.0:0.0:0.7341:0.2659	.	163;184;184	B4DSY6;G5E986;Q7KZM7	.;.;.	L	178;184;184;178;163	ENSP00000424189:W178L;ENSP00000347754:W184L;ENSP00000364648:W184L;ENSP00000424776:W178L;ENSP00000299961:W163L	ENSP00000299961:W163L	W	+	2	0	HTR3A	113359210	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.940000	0.87693	1.245000	0.43885	0.561000	0.74099	TGG			0.607	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000360822.2		NM_000869		T	113854000	G	T	113854000	3	4	117	1	0	0	0	0	1	0	0	0	7459	1357	47	3	595	3	HTR3A	11	113854000	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	3292680	113854000	21152516	31	8763											
C12orf35	55196	broad.mit.edu	37	chr12	32136184	32136184	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatagctgtagtgtcaccGttagttctgtcagaggtcaa	10	12	11	8	1	4	2	3	0	1	2	4	2	4	2	1	1	1	4	1	1	4	4	rs534318377		TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr12:32136184G>T	ENST00000312561.4	+	4	2709	c.2295G>T	c.(2293-2295)ccG>ccT	p.P765P	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	765																	TAGTGTCACCGTTAGTTCTGT	0.403																																					p.P765P													.	.			0			c.G2295T												84	80	81					12																	32136184		2203	4300	6503	SO:0001819	synonymous_variant	55196	exon4			GTCACCGTTAGTT	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2295G>T	12.37:g.32136184G>T			100	0	0		270	0.01	4	NM_018169	619	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																					0.403	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250307.2		NM_018169		T	32136184	G	T	32136184	2	4	117	1	0	0	0	0	0	0	0	1	1684	1132	40	1		1	C12orf35	12	32136184	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		32136184	101715711	32	8764											
KRT78	196374	mdanderson.org	37	chr12	53233575	53233575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgccctccagcagcctgCggtaagtggcaatctccaca	8	7	9	17	2	1	0	0	0	1	0	4	0	2	0	5	2	3	3	5	2	2	1	rs373055664		TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr12:53233575C>T	ENST00000304620.4	-	7	1304	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	KRT78_ENST00000359499.4_Missense_Mutation_p.R304H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	414	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCAGCCTGCGGTAAGTGGC	0.607																																					p.R414H													.	.			0			c.G1241A							C	HIS/ARG	0,4406		0,0,2203	70	61	64		1241	3	1	12		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT78	NM_173352.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	414/521	53233575	1,13005	2203	4300	6503	SO:0001583	missense	196374	exon7			AGCCTGCGGTAAG	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1241G>A	12.37:g.53233575C>T	ENSP00000306261:p.Arg414His		48	0	0		44	0.07	3	NM_173352	0		0	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803941	0.50315	0.0	1.16E-4	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.94687	-3.49;-3.49	3.89	2.98	0.34508	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95043	0.8395	M	0.92833	3.35	0.27025	N	0.964374	B	0.31459	0.324	B	0.28465	0.09	D	0.91031	0.4864	9	0.72032	D	0.01	.	12.4504	0.55675	0.0:0.8293:0.1707:0.0	.	414	Q8N1N4	K2C78_HUMAN	H	304;414;185	ENSP00000352479:R304H;ENSP00000306261:R414H	ENSP00000306261:R414H	R	-	2	0	KRT78	51519842	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.883000	0.39658	0.966000	0.38159	-0.502000	0.04539	CGC			0.607	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406380.1		NM_173352		T	53233575	C	T	53233575	3	4	117	1	0	0	0	0	1	0	0	0	8506	768	27	1	333	1	KRT78	12	53233575	Missense_Mutation	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10	21097391	53233575	80618320	33	8765											
CCDC60	160777	mdanderson.org	37	chr12	119954484	119954484	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaggacagtcacaataGaaaatgggatgcaaagaaaa	19	4	11	7	1	1	2	1	0	0	2	1	5	1	5	1	3	1	1	1	3	7	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr12:119954484G>T	ENST00000327554.2	+	8	1405	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	314										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)		AGTCACAATAGAAAATGGGAT	0.468																																					p.E314X													CCDC60,bladder,carcinoma,0,1	CCDC60	0	1	0			c.G940T												98	95	96					12																	119954484		2203	4300	6503	SO:0001587	stop_gained	160777	exon8			ACAATAGAAAATG	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.940G>T	12.37:g.119954484G>T	ENSP00000333374:p.Glu314*		41	0	0		45	0.07	3	NM_178499	0		0		Nonsense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	38	6.840025	0.97877	.	.	ENSG00000183273	ENST00000327554	.	.	.	5.06	4.17	0.49024	.	0.380664	0.22250	N	0.062565	.	.	.	.	.	.	0.21256	N	0.999746	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.851	9.4621	0.38792	0.096:0.0:0.904:0.0	.	.	.	.	X	314	.	.	E	+	1	0	CCDC60	118438867	0.076000	0.21285	0.005000	0.12908	0.003000	0.03518	2.745000	0.47459	1.360000	0.45960	-0.150000	0.13652	GAA			0.468	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401680.1		NM_178499		T	119954484	G	T	119954484	4	4	117	1	0	0	0	0	0	1	0	0	2833	943	33	3	970	3	CCDC60	12	119954484	Nonsense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	66720909	119954484	13897411	34	8766											
DACH1	1602	mdanderson.org	37	chr13	72440446	72440446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctactactGctgctgctgctgctgctgct	2	14	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr13:72440446G>A	ENST00000359684.2	-	1	461	c.462C>T	c.(460-462)agC>agT	p.S154S	DACH1_ENST00000354591.4_Silent_p.S154S|DACH1_ENST00000313174.7_Silent_p.S154S|DACH1_ENST00000305425.4_Silent_p.S154S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	154	Poly-Ser.				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)		tgctactactgctgctgctgc	0.662																																					p.S154S													.	.			0			c.C462T												3	4	4					13																	72440446		1701	3505	5206	SO:0001819	synonymous_variant	1602	exon1			ACTACTGCTGCTG	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.462C>T	13.37:g.72440446G>A			23	0	0		19	0.11	2	NM_080759	1	0	0	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37																																																																																						0.662	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000045240.1		NM_004392		A	72440446	G	A	72440446	2	1	117	1	0	0	0	0	0	0	0	1	4222	1310	46	2		2	DACH1	13	72440446	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		72440446	42729432	35	8767											
DCAF5	8816	mdanderson.org	37	chr14	69619649	69619649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccccgctgggacaagaagCccaccactgacctcatgctg	10	5	10	16	1	1	2	1	1	0	1	1	3	1	3	5	1	3	2	5	1	2	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr14:69619649C>T	ENST00000341516.5	-	1	194	c.47G>A	c.(46-48)gGc>gAc	p.G16D	DCAF5_ENST00000389997.6_Missense_Mutation_p.G16D|DCAF5_ENST00000554215.1_5'Flank|DCAF5_ENST00000556847.1_5'Flank|DCAF5_ENST00000557386.1_Missense_Mutation_p.G16D	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	16					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						GGACAAGAAGCCCACCACTGA	0.682																																					p.G16D													.	.			0			c.G47A												32	38	36					14																	69619649		2203	4300	6503	SO:0001583	missense	8816	exon1			AAGAAGCCCACCA	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.47G>A	14.37:g.69619649C>T	ENSP00000341351:p.Gly16Asp		40	0	0		44	0.07	3	NM_003861	22	0	0	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635495	0.87760	.	.	ENSG00000139990	ENST00000341516;ENST00000557386;ENST00000389997	T;T;T	0.69926	-0.38;0.32;-0.44	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000001	T	0.69233	0.3088	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.982;0.97	D;P;P	0.87578	0.998;0.83;0.762	T	0.65335	-0.6193	10	0.18276	T	0.48	-12.1656	16.0893	0.81082	0.0:1.0:0.0:0.0	.	16;16;16	Q8TBB7;G3V4J7;Q96JK2	.;.;DCAF5_HUMAN	D	16	ENSP00000341351:G16D;ENSP00000451845:G16D;ENSP00000374647:G16D	ENSP00000341351:G16D	G	-	2	0	DCAF5	68689402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.592000	0.74095	1.966000	0.57179	0.491000	0.48974	GGC			0.682	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000414806.2		NM_003861		T	69619649	C	T	69619649	3	4	117	1	0	0	0	0	1	0	0	0	4275	739	26	2	2817	2	DCAF5	14	69619649	Missense_Mutation	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10		69619649	37729891	36	8768											
KIF26A	26153	mdanderson.org	37	chr14	104642874	104642874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccgggtaggggagtGtgatacccaggcagcttctg	6	9	16	10	1	1	1	0	1	1	0	2	2	2	2	2	4	3	5	2	4	2	3			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr14:104642874G>T	ENST00000423312.2	+	12	3749	c.3749G>T	c.(3748-3750)tGt>tTt	p.C1250F	KIF26A_ENST00000315264.7_Missense_Mutation_p.C1111F	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1250					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTAGGGGAGTGTGATACCCAG	0.692																																					p.C1250F													.	.			0			c.G3749T												28	35	33					14																	104642874		2013	4158	6171	SO:0001583	missense	26153	exon12			GGGAGTGTGATAC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3749G>T	14.37:g.104642874G>T	ENSP00000388241:p.Cys1250Phe		13	0	0		20	0.1	2	NM_015656	72	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	0.078	-1.189138	0.01607	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78126	-1.15;-1.15	3.27	2.32	0.28847	.	.	.	.	.	T	0.66896	0.2836	L	0.36672	1.1	0.09310	N	1	P	0.36144	0.539	B	0.31016	0.123	T	0.57093	-0.7870	9	0.59425	D	0.04	.	12.3261	0.55011	0.0:0.1725:0.8275:0.0	.	1250	Q9ULI4	KI26A_HUMAN	F	1250;1111	ENSP00000388241:C1250F;ENSP00000325452:C1111F	ENSP00000325452:C1111F	C	+	2	0	KIF26A	103712627	0.268000	0.24133	0.014000	0.15608	0.253000	0.25986	2.227000	0.42972	0.674000	0.31244	0.205000	0.17691	TGT			0.692	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414356.1				T	104642874	G	T	104642874	3	4	117	1	0	0	0	0	1	0	0	0	8309	1377	48	3	3795	3	KIF26A	14	104642874	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	35023225	104642874	2706666	37	8769											
DISP2	85455	mdanderson.org	37	chr15	40660380	40660380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggctggcacctcgcgtctGctcttccagcgcctgctgcc	2	9	12	18	4	2	0	0	0	2	0	4	0	3	0	4	2	4	4	4	2	0	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr15:40660380G>A	ENST00000267889.3	+	8	2154	c.2067G>A	c.(2065-2067)ctG>ctA	p.L689L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	689					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTCGCGTCTGCTCTTCCAGC	0.746																																					p.L689L													.	.			0			c.G2067A												9	9	9					15																	40660380		2176	4253	6429	SO:0001819	synonymous_variant	85455	exon8			GCGTCTGCTCTTC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2067G>A	15.37:g.40660380G>A			38	0	0		23	0.13	3	NM_033510	0		0	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																					0.746	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252249.1		NM_033510		A	40660380	G	A	40660380	2	1	117	1	0	0	0	0	0	0	0	1	4545	1306	46	2		2	DISP2	15	40660380	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		40660380	61871012	38	8770											
DET1	55070	broad.mit.edu	37	chr15	89056263	89056263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatagcgaaaggctcaaaAgggtgaaaggtgaaggcaac	18	4	14	5	1	1	2	1	2	0	0	1	4	1	2	0	4	2	2	0	4	8	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr15:89056263A>G	ENST00000268148.8	-	5	1717	c.1572T>C	c.(1570-1572)ccT>ccC	p.P524P	DET1_ENST00000564406.1_Silent_p.P535P|RP11-97O12.7_ENST00000606219.1_RNA|DET1_ENST00000444300.1_Silent_p.P535P	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	524						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AAGGCTCAAAAGGGTGAAAGG	0.552																																					p.P535P													.	DET1	55		0			c.T1605C												89	87	88					15																	89056263		2014	4177	6191	SO:0001819	synonymous_variant	55070	exon6			CTCAAAAGGGTGA	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1572T>C	15.37:g.89056263A>G			135	0	0		139	0.02	3	NM_017996	41	0	0	B3KNN6|Q2VPC0|Q9NWD5	Silent	SNP	ENST00000268148.8	37	CCDS45344.1																																																																																					0.552	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415442.2		NM_017996		G	89056263	A	G	89056263	2	3	117	1	0	0	0	0	0	0	0	1	4455	59	3	4		4	DET1	15	89056263	Silent	SNP	A	TCGA-XE-AAO3-01A-11D-A435-10	48395883	89056263	13475129	39	8771											
PRR25	388199	mdanderson.org	37	chr16	855797	855797	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctggcctgcgcccacagGgaactcctgccatgcgggcc	5	5	14	17	2	0	0	0	0	0	0	1	1	1	1	6	4	4	0	6	4	1	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr16:855797G>T	ENST00000301698.1	+	1	355	c.355G>T	c.(355-357)Gga>Tga	p.G119*		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	119	Pro-rich.									large_intestine(1)|lung(1)|skin(1)	3						GCGCCCACAGGGAACTCCTGC	0.637																																					p.G119X													.	.			0			c.G355T												15	20	19					16																	855797		1944	4118	6062	SO:0001587	stop_gained	388199	exon1			CCACAGGGAACTC	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.355G>T	16.37:g.855797G>T	ENSP00000301698:p.Gly119*		27	0	0		26	0.12	3	NM_001013638	0		0		Nonsense_Mutation	SNP	ENST00000301698.1	37	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443840	0.43429	.	.	ENSG00000167945	ENST00000301698	.	.	.	0.668	0.668	0.17912	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.1142	0.25407	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	119	.	ENSP00000301698:G119X	G	+	1	0	PRR25	795798	0.061000	0.20836	0.090000	0.20809	0.032000	0.12392	1.140000	0.31516	0.613000	0.30089	0.462000	0.41574	GGA			0.637	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440563.1		NM_001013638		T	855797	G	T	855797	4	4	117	1	0	0	0	0	0	1	0	0	12617	1233	43	3	357	3	PRR25	16	855797	Nonsense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		855797	89498956	40	8772											
PKD1	5310	mdanderson.org	37	chr16	2162857	2162857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagcgtggcattgggggaCagcacggccggcactgtgga	7	6	18	10	3	0	0	0	0	0	0	0	2	0	2	1	6	2	4	1	6	1	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr16:2162857C>T	ENST00000262304.4	-	13	3301	c.3093G>A	c.(3091-3093)ctG>ctA	p.L1031L	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.L1031L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1031	PKD 5. {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						CATTGGGGGACAGCACGGCCG	0.652																																					p.L1031L													.	.			0			c.G3093A												107	102	103					16																	2162857		2195	4299	6494	SO:0001819	synonymous_variant	5310	exon13			GGGGGACAGCACG	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.3093G>A	16.37:g.2162857C>T			19	0	0		18	0.11	2	NM_001009944	17	0	0	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																					0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341688.1				T	2162857	C	T	2162857	2	4	117	1	0	0	0	0	0	0	0	1	11980	465	17	3		3	PKD1	16	2162857	Silent	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10	1307060	2162857	88191896	41	8773											
PPL	5493	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	4943298	4943300	+	In_Frame_Del	DEL	CTC	CTC	-																															aggatccctgtgatggccttCtcctgccggtccaggtcgct																										TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	CTC	CTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr16:4943298_4943300delCTC	ENST00000345988.2	-	14	1653_1655	c.1564_1566delGAG	c.(1564-1566)gagdel	p.E522del	PPL_ENST00000590782.2_In_Frame_Del_p.E520del	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	522					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						TGATGGCCTTCTCCTGCCGGTCC	0.67																																					p.522_523del													.	PPL	168		0			c.1565_1567del																																									SO:0001651	inframe_deletion	5493	exon14			GGCCTTCTCCTGC	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.1564_1566delGAG	16.37:g.4943298_4943300delCTC	ENSP00000340510:p.Glu522del		48	0	0		39	0.28	11	NM_002705	4	0	0	O60314|O60454|Q14C98	In_Frame_Del	DEL	ENST00000345988.2	37	CCDS10526.1																																																																																					0.67	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251715.1		NM_002705		-	4943300	CTC	-	4943298	7	5	117	1	0	1	0	1	0	0	0	0	12354	912	32	0	3740	0	PPL	16	4943298	In_Frame_Del	DEL	CTC	TCGA-XE-AAO3-01A-11D-A435-10	2780441	4943298	85411455	42	8774											
EXOC3L	283849	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	67218711	67218711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgcgcgttctcctccagGccctgagcacgtcggggtag	5	8	14	14	4	1	1	0	1	1	0	4	1	2	1	3	3	2	3	3	3	1	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr16:67218711G>A	ENST00000314586.6	-	13	2148	c.1908C>T	c.(1906-1908)ggC>ggT	p.G636G	KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	636					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCTCCTCCAGGCCCTGAGCAC	0.701																																					p.G636G													.	EXOC3L1	52		0			c.C1908T												23	28	26					16																	67218711		2198	4293	6491	SO:0001819	synonymous_variant	283849	exon13			CTCCAGGCCCTGA	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1908C>T	16.37:g.67218711G>A			27	0	0		25	0.16	4	NM_178516	12	0.08	1	A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	ENST00000314586.6	37	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665616	0.47677	.	.	ENSG00000179044	ENST00000545725;ENST00000314553	T	0.23147	1.92	4.91	-3.42	0.04825	.	.	.	.	.	T	0.14614	0.0353	.	.	.	0.80722	D	1	B;B	0.17268	0.017;0.021	B;B	0.18871	0.013;0.023	T	0.20840	-1.0263	8	0.66056	D	0.02	-4.9999	1.6756	0.02821	0.3099:0.228:0.3464:0.1157	.	564;564	F5H4W1;B7Z6U0	.;.	S	564;569	ENSP00000439910:P564S	ENSP00000325008:P569S	P	-	1	0	EXOC3L1	65776212	0.387000	0.25188	0.988000	0.46212	0.758000	0.43043	-0.576000	0.05854	-0.192000	0.10432	-0.258000	0.10820	CCT			0.701	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268827.2		NM_178516		A	67218711	G	A	67218711	2	1	117	1	0	0	0	0	0	0	0	1	5311	1190	42	2		2	EXOC3L	16	67218711	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	62275413	67218711	23136042	43	8775											
ANKRD11	29123	mdanderson.org	37	chr16	89357055	89357055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagtccttgacgttgacGtctgccccctcgctgatgag	6	10	12	13	4	1	4	0	4	1	0	3	5	2	4	3	0	1	2	3	0	1	2	rs142820281		TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr16:89357055G>T	ENST00000301030.4	-	6	1039	c.579C>A	c.(577-579)gaC>gaA	p.D193E	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D193E	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	193					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)		TGACGTTGACGTCTGCCCCCT	0.662																																					p.D193E													ANKRD11,NS,carcinoma,-2,1	ANKRD11	-2	1	0			c.C579A												56	58	57					16																	89357055		2198	4300	6498	SO:0001583	missense	29123	exon7			GTTGACGTCTGCC	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.579C>A	16.37:g.89357055G>T	ENSP00000301030:p.Asp193Glu		57	0	0		40	0.08	3	NM_001256182	88	0	0	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255666	0.80135	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.39229	1.09;1.09	5.45	-8.65	0.00870	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	L	0.45051	1.395	0.80722	D	1	D;D;D	0.56968	0.978;0.972;0.978	D;D;D	0.71870	0.975;0.966;0.969	T	0.68025	-0.5518	10	0.72032	D	0.01	.	19.7006	0.96050	0.7972:0.0:0.2028:0.0	.	193;207;193	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	E	193;193;207	ENSP00000301030:D193E;ENSP00000367581:D193E	ENSP00000301030:D193E	D	-	3	2	ANKRD11	87884556	0.210000	0.23517	0.099000	0.21106	0.833000	0.47200	-0.475000	0.06599	-1.582000	0.01640	-1.036000	0.02392	GAC			0.662	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		T	89357055	G	T	89357055	3	4	117	1	0	0	0	0	1	0	0	0	639	1136	40	1	7444	1	ANKRD11	16	89357055	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	22138344	89357055	997698	44	8776											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		260	0.0384615385	10		199	0.08	15	NM_145301	89	0.33	29	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	117	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10		15457087	65738123	45	8777											
ALKBH5	54890	mdanderson.org	37	chr17	18087632	18087632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggacaactataaggcGggcagccgggaggccgccgc	8	3	16	14	5	0	0	0	0	0	0	1	2	1	2	4	5	2	1	4	5	3	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr17:18087632G>A	ENST00000399138.4	+	1	80	c.75G>A	c.(73-75)gcG>gcA	p.A25A	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000577847.1_RNA|RP11-258F1.1_ENST00000583062.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	25					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|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)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					ACTATAAGGCGGGCAGCCGGG	0.726																																					p.A25A	Ovarian(166;154 1953 40235 46283 46309)												.	.			0			c.G75A												1	2	2					17																	18087632		958	2252	3210	SO:0001819	synonymous_variant	54890	exon1			TAAGGCGGGCAGC	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.75G>A	17.37:g.18087632G>A			13	0	0		20	0.15	3	NM_017758	22	0	0	B4DVJ4|D3DXC6|Q9NXD6	Silent	SNP	ENST00000399138.4	37	CCDS42272.1																																																																																					0.726	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132069.3		NM_017758		A	18087632	G	A	18087632	2	1	117	1	0	0	0	0	0	0	0	1	530	1103	39	1		1	ALKBH5	17	18087632	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	2630545	18087632	63107578	46	8778											
SUPT6H	6830	mdanderson.org	37	chr17	27028472	27028472	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtccaacagccatgcAgccatcgactggggaaaaat	13	5	10	13	1	0	0	0	0	0	0	2	2	1	1	4	3	4	1	4	3	3	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr17:27028472A>G	ENST00000314616.6	+	37	5293	c.5010A>G	c.(5008-5010)gcA>gcG	p.A1670A	SUPT6H_ENST00000347486.4_Silent_p.A1670A|PROCA1_ENST00000579650.1_5'Flank	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1670	Interaction with histone H2B and H3.				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)					ACAGCCATGCAGCCATCGACT	0.567																																					p.A1670A													SUPT6H,NS,carcinoma,+1,1	SUPT6H	1	1	0			c.A5010G												65	64	64					17																	27028472		2203	4300	6503	SO:0001819	synonymous_variant	6830	exon37			CCATGCAGCCATC	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.5010A>G	17.37:g.27028472A>G			57	0	0		38	0.08	3	NM_003170	259	0	1	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																					0.567	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446422.2		NM_003170		G	27028472	A	G	27028472	2	3	117	1	0	0	0	0	0	0	0	1	15423	175	7	4		4	SUPT6H	17	27028472	Silent	SNP	A	TCGA-XE-AAO3-01A-11D-A435-10	8940840	27028472	54166738	47	8779											
ATAD5	79915	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	29195417	29195417	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgaagggaaaaagagaTgagaaacatgaaggtatttt	19	9	11	2	0	1	4	0	3	1	2	1	7	1	5	0	2	1	1	0	2	7	3			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr17:29195417T>A	ENST00000321990.4	+	12	3678	c.3300T>A	c.(3298-3300)gaT>gaA	p.D1100E		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1100					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)				GAAAAAGAGATGAGAAACATG	0.289																																					p.D1100E													.	ATAD5	150		0			c.T3300A												83	88	86					17																	29195417		2203	4300	6503	SO:0001583	missense	79915	exon12			AAGAGATGAGAAA		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.3300T>A	17.37:g.29195417T>A	ENSP00000313171:p.Asp1100Glu		97	0.0103092784	1		88	0.3	26	NM_024857	37	0.3	11	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769817	0.31320	.	.	ENSG00000176208	ENST00000321990	T	0.05382	3.45	5.42	-2.51	0.06365	.	0.551543	0.19964	N	0.102150	T	0.04907	0.0132	L	0.59436	1.845	0.39184	D	0.96283	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.43814	-0.9368	10	0.13470	T	0.59	.	3.3095	0.07011	0.1046:0.1939:0.4292:0.2723	.	1100;1100	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	E	1100	ENSP00000313171:D1100E	ENSP00000313171:D1100E	D	+	3	2	ATAD5	26219543	0.564000	0.26602	0.961000	0.40146	0.972000	0.66771	-0.630000	0.05502	-0.906000	0.03866	-0.313000	0.08912	GAT			0.289	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256206.2		NM_024857		A	29195417	T	A	29195417	3	1	117	1	0	0	0	0	1	0	0	0	1076	1461	51	5	3346	5	ATAD5	17	29195417	Missense_Mutation	SNP	T	TCGA-XE-AAO3-01A-11D-A435-10	2166945	29195417	51999793	48	8780											
AMAC1	146861	broad.mit.edu	37	chr17	33521194	33521194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcaggcccccacccaGcagggccaccagcaggccac	10	0	12	19	0	0	0	0	0	0	0	0	0	0	0	6	4	3	4	6	4	0	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr17:33521194G>T	ENST00000297307.5	-	1	218	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	45						integral component of membrane (GO:0016021)											CCCCCACCCAGCAGGGCCACC	0.677																																					p.L45M													.	.			0			c.C133A												46	51	50					17																	33521194		2202	4299	6501	SO:0001583	missense	146861	exon1			CACCCAGCAGGGC	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.133C>A	17.37:g.33521194G>T	ENSP00000297307:p.Leu45Met		95	0	0		73	0.07	5	NM_152462	3	0	0	B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	5.126	0.208792	0.09757	.	.	ENSG00000164729	ENST00000297307	T	0.35236	1.32	.	.	.	.	0.475495	0.15592	N	0.254331	T	0.19446	0.0467	N	0.24115	0.695	0.32829	D	0.503737	B	0.18013	0.025	B	0.18263	0.021	T	0.11372	-1.0590	9	0.46703	T	0.11	-3.4659	2.6646	0.05037	0.4962:0.0:0.5037:0.0	.	45	Q8N808	S35G3_HUMAN	M	45	ENSP00000297307:L45M	ENSP00000297307:L45M	L	-	1	2	SLC35G3	30545307	1.000000	0.71417	0.359000	0.25824	0.362000	0.29581	0.221000	0.17680	0.064000	0.16427	0.064000	0.15345	CTG			0.677	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256445.2		NM_152462		T	33521194	G	T	33521194	3	4	117	1	0	0	0	0	1	0	0	0	559	962	34	2	887	2	AMAC1	17	33521194	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	4325777	33521194	47674016	49	8781											
ARL16	339231	mdanderson.org	37	chr17	79650804	79650804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccgtgcttcgctccacccgGcacccgtagctcggcgccgc	3	7	11	20	7	0	0	0	0	0	0	4	0	2	0	5	2	2	5	5	2	1	2			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr17:79650804G>A	ENST00000397498.4	-	1	150	c.52C>T	c.(52-54)Ccg>Tcg	p.P18S	HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000570561.1_5'Flank	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	18					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTCCACCCGGCACCCGTAGC	0.637																																					p.P18S													.	.			0			c.C52T												15	19	18					17																	79650804		1905	4097	6002	SO:0001583	missense	339231	exon1			CACCCGGCACCCG		CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.52C>T	17.37:g.79650804G>A	ENSP00000380635:p.Pro18Ser		20	0	0		23	0.13	3	NM_001040025	3	0	0		Missense_Mutation	SNP	ENST00000397498.4	37	CCDS45813.1	.	.	.	.	.	.	.	.	.	.	G	6.953	0.545786	0.13312	.	.	ENSG00000214087	ENST00000397498	T	0.69175	-0.38	4.2	-0.651	0.11454	.	1.833720	0.06186	U	0.680329	T	0.39937	0.1097	N	0.02802	-0.49	0.09310	N	0.999994	B	0.12013	0.005	B	0.11329	0.006	T	0.32348	-0.9910	10	0.87932	D	0	0.5135	4.756	0.13085	0.3689:0.2803:0.3508:0.0	.	18	Q0P5N6	ARL16_HUMAN	S	18	ENSP00000380635:P18S	ENSP00000380635:P18S	P	-	1	0	ARL16	77261209	0.000000	0.05858	0.003000	0.11579	0.170000	0.22686	-0.245000	0.08890	-0.101000	0.12219	-0.140000	0.14226	CCG			0.637	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440514.1		XM_290777		A	79650804	G	A	79650804	3	1	117	1	0	0	0	0	1	0	0	0	932	1203	42	2	561	2	ARL16	17	79650804	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	46129610	79650804	1544406	50	8782											
GALR1	2587	mdanderson.org	37	chr18	74968158	74968158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaacatgtcaaagaaGtctgaagcatccaagaaaaa	20	7	8	6	0	2	5	1	2	1	3	3	5	3	5	1	0	2	1	1	0	8	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr18:74968158G>T	ENST00000299727.3	+	2	711	c.711G>T	c.(709-711)aaG>aaT	p.K237N	GALR1_ENST00000582943.1_3'UTR	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	237					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGTCAAAGAAGTCTGAAGCAT	0.353																																					p.K237N													GALR1,NS,carcinoma,+1,1	GALR1	1	1	0			c.G711T												120	118	119					18																	74968158		2203	4300	6503	SO:0001583	missense	2587	exon2			AAAGAAGTCTGAA	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.711G>T	18.37:g.74968158G>T	ENSP00000299727:p.Lys237Asn		109	0	0		45	0.07	3	NM_001480	0		0	Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578854	0.46006	.	.	ENSG00000166573	ENST00000299727	T	0.37058	1.22	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.195606	0.49916	D	0.000126	T	0.36468	0.0968	L	0.57536	1.79	0.80722	D	1	B	0.28178	0.202	B	0.27170	0.077	T	0.25847	-1.0120	10	0.46703	T	0.11	.	14.538	0.67973	0.0:0.0:1.0:0.0	.	237	P47211	GALR1_HUMAN	N	237	ENSP00000299727:K237N	ENSP00000299727:K237N	K	+	3	2	GALR1	73097146	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.498000	0.53302	2.283000	0.76528	0.563000	0.77884	AAG			0.353	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256362.1				T	74968158	G	T	74968158	3	4	117	1	0	0	0	0	1	0	0	0	6241	1020	36	3	717	3	GALR1	18	74968158	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		74968158	3109090	51	8783											
TMIGD2	126259	bcgsc.ca	37	chr19	4292842	4292842	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcactcttctttggggcCccccggggccggtataggac	4	10	12	15	2	3	0	1	0	2	0	4	1	4	1	5	6	0	1	5	6	2	4			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:4292842C>G	ENST00000301272.2	-	5	648	c.603G>C	c.(601-603)ggG>ggC	p.G201G	TMIGD2_ENST00000595645.1_Silent_p.G197G|TMIGD2_ENST00000600114.1_Silent_p.G81G|TMIGD2_ENST00000600349.1_Silent_p.G29G	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	201					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTTGGGGCCCCCCGGGGCC	0.592																																					p.G201G													.	TMIGD2	38		0			c.G603C												53	59	57					19																	4292842		2202	4300	6502	SO:0001819	synonymous_variant	126259	exon5			TGGGGCCCCCCGG	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.603G>C	19.37:g.4292842C>G			102	0	0		97	0.06	6	NM_144615	1	0	0	Q6UW59	Silent	SNP	ENST00000301272.2	37	CCDS12126.1																																																																																					0.592	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000458088.1		NM_144615		G	4292842	C	G	4292842	2	3	117	1	0	0	0	0	0	0	0	1	16254	610	22	5		5	TMIGD2	19	4292842	Silent	SNP	C	TCGA-XE-AAO3-01A-11D-A435-10		4292842	54836141	52	8784											
CD209	30835	mdanderson.org	37	chr19	7810421	7810421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccactgcagccttcagcTgggtcagctcctggtagatc	7	9	10	15	0	2	1	2	0	0	1	4	1	3	1	3	2	4	4	3	2	1	2	rs199880715|rs145850292	byFrequency	TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:7810421T>C	ENST00000315599.7	-	4	753	c.731A>G	c.(730-732)cAg>cGg	p.Q244R	CD209_ENST00000593821.1_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.Q220R|CD209_ENST00000601951.1_Missense_Mutation_p.Q220R|CD209_ENST00000315591.8_Missense_Mutation_p.Q220R|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.Q244R|CD209_ENST00000593660.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.Q200R|CD209_ENST00000301357.8_Missense_Mutation_p.Q108R|CD209_ENST00000394173.4_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	244	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						AGCCTTCAGCTGGGTCAGCTC	0.562													t|||	6	0.00119808	0.0038	0	5008	,	,		19020	0		0.001	False		,,,				2504	0				p.Q244R													.	.			0			c.A731G							T	,ARG/GLN,,ARG/GLN,ARG/GLN,,ARG/GLN	14,4392	20.2+/-43.8	0,14,2189	152	156	155		,599,,659,731,,731	1.9	0.4	19	dbSNP_134	155	7,8593	5.7+/-21.5	0,7,4293	yes	intron,missense,intron,missense,missense,intron,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	,43,,43,43,,43	0,21,6482	CC,CT,TT		0.0814,0.3177,0.1615	,benign,,benign,benign,,benign	,200/361,,220/381,244/399,,244/405	7810421	21,12985	2203	4300	6503	SO:0001583	missense	30835	exon4			TTCAGCTGGGTCA	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.731A>G	19.37:g.7810421T>C	ENSP00000315477:p.Gln244Arg		23	0	0		40	0.08	3	NM_021155	0		0	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	CCDS12186.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	t	9.117	1.008114	0.19199	0.003177	8.14E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000301357;ENST00000540789	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	2.97	1.94	0.25998	C-type lectin fold (1);C-type lectin-like (1);	.	.	.	.	T	0.09512	0.0234	L	0.45581	1.43	0.24078	N	0.995952	B;B;P;B;B;B;B	0.37207	0.001;0.001;0.587;0.0;0.003;0.22;0.001	B;B;B;B;B;B;B	0.35114	0.003;0.006;0.196;0.006;0.004;0.042;0.003	T	0.17471	-1.0368	9	0.46703	T	0.11	.	4.7771	0.13184	0.0:0.1489:0.0:0.8511	.	244;220;200;220;244;220;244	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-10;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.;.	R	244;244;220;200;108;228	ENSP00000315477:Q244R;ENSP00000346373:Q244R;ENSP00000315407:Q220R;ENSP00000204801:Q200R;ENSP00000301357:Q108R	ENSP00000204801:Q200R	Q	-	2	0	CD209	7716421	0.929000	0.31497	0.392000	0.26245	0.331000	0.28603	0.544000	0.23253	0.538000	0.28769	0.374000	0.22700	CAG	0.002		0.562	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462241.1		NM_021155		C	7810421	T	C	7810421	3	2	117	1	0	0	0	0	1	0	0	0	2986	1580	55	4	499	4	CD209	19	7810421	Missense_Mutation	SNP	T	TCGA-XE-AAO3-01A-11D-A435-10	3517579	7810421	51318562	53	8785											
IL12RB1	3594	ucsc.edu	37	chr19	18180385	18180385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggatccgggtcttgcggcGcagtcaggctgcaggtggca	5	7	17	12	4	2	0	1	0	1	0	3	1	3	1	2	6	2	4	2	6	0	1	rs191062711		TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:18180385G>T	ENST00000600835.2	-	11	1458	c.1160C>A	c.(1159-1161)gCg>gAg	p.A387E	IL12RB1_ENST00000593993.2_Missense_Mutation_p.A387E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	387	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|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)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTCTTGCGGCGCAGTCAGGCT	0.622																																					p.A387E													.	IL12RB1	92		0			c.C1160A												41	49	47					19																	18180385		2020	4158	6178	SO:0001583	missense	3594	exon10			TGCGGCGCAGTCA	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1160C>A	19.37:g.18180385G>T	ENSP00000470788:p.Ala387Glu		31	0.0322580645	1		39	0.1	4	NM_005535	0		0	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838614	0.32513	.	.	ENSG00000096996	ENST00000430026	T	0.80566	-1.39	3.64	-0.327	0.12694	.	1.570780	0.03587	N	0.231212	T	0.78065	0.4225	L	0.47716	1.5	0.09310	N	1	D;D	0.58970	0.984;0.973	P;P	0.55871	0.786;0.615	T	0.63571	-0.6607	10	0.05525	T	0.97	0.0383	2.9485	0.05854	0.2728:0.0:0.52:0.2072	.	387;387	P42701-2;P42701	.;I12R1_HUMAN	E	387	ENSP00000403103:A387E	ENSP00000403103:A387E	A	-	2	0	IL12RB1	18041385	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.572000	0.02136	0.057000	0.16193	0.430000	0.28490	GCG			0.622	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466525.3				T	18180385	G	T	18180385	3	4	117	1	0	0	0	0	1	0	0	0	7641	1087	38	1	860	1	IL12RB1	19	18180385	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	10369964	18180385	40948598	54	8786											
ATP4A	495	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36050035	36050035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtctccaccgcctccAggttcttgaccacgcagttc	7	10	7	17	2	2	1	0	1	2	0	5	1	3	1	6	1	0	3	6	1	1	3			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:36050035A>G	ENST00000262623.3	-	8	1143	c.1115T>C	c.(1114-1116)cTg>cCg	p.L372P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	372					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)	CACCGCCTCCAGGTTCTTGAC	0.612																																					p.L372P													.	.			0			c.T1115C												212	192	199					19																	36050035		2203	4300	6503	SO:0001583	missense	495	exon8			GCCTCCAGGTTCT		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.1115T>C	19.37:g.36050035A>G	ENSP00000262623:p.Leu372Pro		89	0	0		97	0.13	13	NM_000704	1	0	0	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685464	0.68157	.	.	ENSG00000105675	ENST00000262623	D	0.92099	-2.97	3.17	3.17	0.36434	HAD-like domain (1);ATPase, P-type, ATPase-associated domain (1);	0.137657	0.30020	N	0.010614	D	0.97049	0.9036	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96768	0.9566	10	0.87932	D	0	.	9.6833	0.40082	1.0:0.0:0.0:0.0	.	372	P20648	ATP4A_HUMAN	P	372	ENSP00000262623:L372P	ENSP00000262623:L372P	L	-	2	0	ATP4A	40741875	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.006000	0.93592	1.444000	0.47605	0.379000	0.24179	CTG			0.612	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109470.2		NM_000704		G	36050035	A	G	36050035	3	3	117	1	0	0	0	0	1	0	0	0	1145	188	7	4	2052	4	ATP4A	19	36050035	Missense_Mutation	SNP	A	TCGA-XE-AAO3-01A-11D-A435-10	17869650	36050035	23078948	55	8787											
HAUS5	23354	mdanderson.org	37	chr19	36104635	36104635	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactgtccccacaggctGtgtctgggccagggggctga	7	7	14	13	0	1	1	0	1	1	0	2	1	2	1	3	4	0	2	3	4	0	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:36104635G>T	ENST00000203166.5	+	2	127	c.102G>T	c.(100-102)ctG>ctT	p.L34L	AC002115.9_ENST00000589603.1_lincRNA|HAUS5_ENST00000379045.2_Silent_p.L34L	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	34					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCCACAGGCTGTGTCTGGGCC	0.592																																					p.L34L													.	.			0			c.G102T												32	34	34					19																	36104635		1979	4151	6130	SO:0001819	synonymous_variant	23354	exon2			CAGGCTGTGTCTG	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.102G>T	19.37:g.36104635G>T			42	0	0		56	0.07	4	NM_015302	124	0	0	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	ENST00000203166.5	37	CCDS42550.1																																																																																					0.592	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459055.2				T	36104635	G	T	36104635	2	4	117	1	0	0	0	0	0	0	0	1	6984	1364	48	3		3	HAUS5	19	36104635	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	54600	36104635	23024348	56	8788											
MLL4	9757	mdanderson.org	37	chr19	36212614	36212614	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccgctgtctggggtaGaggagaagatgttcagcctc	7	10	14	10	1	2	3	1	0	1	3	3	4	2	3	3	3	2	3	3	3	2	3			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:36212614G>T	ENST00000222270.7	+	3	2365	c.2365G>T	c.(2365-2367)Gag>Tag	p.E789*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.E789*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	789					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)										GTCTGGGGTAGAGGAGAAGAT	0.592																																					p.E789X													.	.			0			c.G2365T												33	39	37					19																	36212614		2129	4264	6393	SO:0001587	stop_gained	8085	exon3			GGGGTAGAGGAGA	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.2365G>T	19.37:g.36212614G>T	ENSP00000222270:p.Glu789*		63	0	0		48	0.06	3	NM_014727	88	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	38	7.008610	0.97998	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.38	5.38	0.77491	.	0.000000	0.40640	N	0.001041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5154	0.67816	0.0:0.0:1.0:0.0	.	.	.	.	X	789	.	ENSP00000222270:E789X	E	+	1	0	AD000671.1	40904454	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.302000	0.51849	2.799000	0.96334	0.650000	0.86243	GAG			0.592	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_014727		T	36212614	G	T	36212614	4	4	117	1	0	0	0	0	0	1	0	0	9639	943	33	3	2375	3	MLL4	19	36212614	Nonsense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	107979	36212614	22916369	57	8789											
LIPE	3991	mdanderson.org	37	chr19	42906128	42906128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagggtcaggaagccgtgcgGcaggtcctccaccacgcgca	8	5	14	14	4	1	0	1	0	0	0	3	1	3	1	4	4	2	2	4	4	2	1			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:42906128G>T	ENST00000244289.4	-	10	3343	c.3067C>A	c.(3067-3069)Ccg>Acg	p.P1023T	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	1023					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AAGCCGTGCGGCAGGTCCTCC	0.736																																					p.P1023T													.	.			0			c.C3067A												4	4	4					19																	42906128		1859	3702	5561	SO:0001583	missense	3991	exon10			CGTGCGGCAGGTC	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.3067C>A	19.37:g.42906128G>T	ENSP00000244289:p.Pro1023Thr		21	0	0		17	0.12	2	NM_005357	12	0	0	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496219	0.64186	.	.	ENSG00000079435	ENST00000244289	T	0.09538	2.97	4.35	3.29	0.37713	Alpha/beta hydrolase fold-3 (1);	0.377447	0.26262	N	0.025381	T	0.23806	0.0576	L	0.43757	1.38	0.44918	D	0.997931	D	0.76494	0.999	D	0.70935	0.971	T	0.01416	-1.1360	10	0.87932	D	0	-20.3685	13.7242	0.62748	0.0:0.157:0.843:0.0	.	1023	Q05469	LIPS_HUMAN	T	1023	ENSP00000244289:P1023T	ENSP00000244289:P1023T	P	-	1	0	LIPE	47597968	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	5.827000	0.69300	1.101000	0.41535	0.462000	0.41574	CCG			0.736	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463861.1		NM_005357		T	42906128	G	T	42906128	3	4	117	1	0	0	0	0	1	0	0	0	8836	1203	42	2	167	2	LIPE	19	42906128	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	6693514	42906128	16222855	58	8790											
SYMPK	8189	broad.mit.edu	37	chr19	46332317	46332317	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagcccgaggcacctgcGgccaggtaggcgttgtactc	7	6	16	12	3	0	0	0	0	0	0	1	2	0	1	3	5	3	4	3	5	2	3	rs373014308		TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:46332317G>T	ENST00000245934.7	-	14	2140	c.1896C>A	c.(1894-1896)gcC>gcA	p.A632A	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	632					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A632A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGGCACCTGCGGCCAGGTAGG	0.642													G|||	1	0.000199681	0	0	5008	,	,		17932	0		0	False		,,,				2504	0.001				p.A632A													SYMPK,colon,carcinoma,0,3	SYMPK	104	3	1	Substitution - coding silent(1)	breast(1)	c.C1896A												69	67	68					19																	46332317		2203	4300	6503	SO:0001819	synonymous_variant	8189	exon14			ACCTGCGGCCAGG	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1896C>A	19.37:g.46332317G>T			190	0.0052631579	1		226	0.03	6	NM_004819	202	0	0	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																					0.642	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316581.1		NM_004819		T	46332317	G	T	46332317	2	4	117	1	0	0	0	0	0	0	0	1	15462	1103	39	1		1	SYMPK	19	46332317	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	3426189	46332317	12796666	59	8791											
IL4I1	259307	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	50397675	50397675	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgtgttcttgtcgtactgGgtgaacttggtcaggttgag	6	14	14	7	2	2	2	1	2	1	0	3	2	2	2	0	3	2	3	0	3	2	5			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:50397675G>T	ENST00000391826.2	-	5	559	c.417C>A	c.(415-417)acC>acA	p.T139T	IL4I1_ENST00000595948.1_Silent_p.T161T|IL4I1_ENST00000341114.3_Silent_p.T161T	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	139						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	TGTCGTACTGGGTGAACTTGG	0.632																																					p.T161T													.	.			0			c.C483A												108	104	105					19																	50397675		2203	4300	6503	SO:0001819	synonymous_variant	259307	exon7			GTACTGGGTGAAC	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.417C>A	19.37:g.50397675G>T			122	0	0		100	0.05	5	NM_172374	56	0	0	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	CCDS12787.1																																																																																					0.632	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466413.1				T	50397675	G	T	50397675	2	4	117	1	0	0	0	0	0	0	0	1	7712	1219	43	3		3	IL4I1	19	50397675	Silent	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10	4065358	50397675	8731308	60	8792											
ZNF814	730051	bcgsc.ca	37	chr19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattctccacattcatAaggtcttttcccagtgtgaa	10	13	5	13	0	3	1	1	1	2	0	5	1	4	1	3	1	0	0	3	1	2	5			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	324					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCACATTCATAAGGTCTTTTC	0.358																																					p.Y324H													.	ZNF814	93		0			c.T970C												15	12	13					19																	58385788		688	1564	2252	SO:0001583	missense	730051	exon3			ATTCATAAGGTCT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.970T>C	19.37:g.58385788A>G	ENSP00000410545:p.Tyr324His		141	0	0		132	0.06	8	NM_001144989	21	0	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.644	0.896732	0.17686	.	.	ENSG00000204514	ENST00000435989	T	0.21734	1.99	2.27	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.33485	1.01	0.09310	N	1	B	0.27498	0.18	B	0.22386	0.039	T	0.24368	-1.0162	9	0.72032	D	0.01	.	7.1587	0.25652	0.6135:0.0:0.3865:0.0	.	324	B7Z6K7	ZN814_HUMAN	H	324	ENSP00000410545:Y324H	ENSP00000410545:Y324H	Y	-	1	0	ZNF814	63077600	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.130000	0.15850	-0.181000	0.10619	0.113000	0.15668	TAT			0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708		G	58385788	A	G	58385788	3	3	117	1	0	0	0	0	1	0	0	0	18199	362	13	4	1601	4	ZNF814	19	58385788	Missense_Mutation	SNP	A	TCGA-XE-AAO3-01A-11D-A435-10	7988113	58385788	743195	61	8793											
SLC4A11	83959	mdanderson.org	37	chr20	3209870	3209870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgactggatctgcgccatcGcaaaggggctctcgctgggg	6	7	16	12	4	2	0	0	0	2	0	4	2	2	1	1	5	1	3	1	5	1	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr20:3209870G>A	ENST00000380056.3	-	15	1984	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	SLC4A11_ENST00000380059.3_Missense_Mutation_p.A673V|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.A630V	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	646	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CTGCGCCATCGCAAAGGGGCT	0.627																																					p.A673V	NSCLC(190;922 2139 10266 10292 38692)												.	.			0			c.C2018T												65	68	67					20																	3209870		2203	4300	6503	SO:0001583	missense	83959	exon16			GCCATCGCAAAGG	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1937C>T	20.37:g.3209870G>A	ENSP00000369396:p.Ala646Val		66	0	0		47	0.06	3	NM_001174090	39	0	0	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	8.890	0.953782	0.18431	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.76968	-1.06;-1.06;-1.06	4.93	2.57	0.30868	Bicarbonate transporter, C-terminal (1);	1.074070	0.07122	N	0.844049	T	0.49932	0.1586	N	0.01352	-0.895	0.23712	N	0.99704	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.38972	-0.9636	10	0.29301	T	0.29	.	6.2123	0.20636	0.3819:0.0:0.1305:0.4876	.	630;673;646	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	V	673;646;630	ENSP00000369399:A673V;ENSP00000369396:A646V;ENSP00000441370:A630V	ENSP00000369396:A646V	A	-	2	0	SLC4A11	3157870	1.000000	0.71417	0.750000	0.31169	0.680000	0.39746	1.351000	0.34022	0.286000	0.22352	-0.521000	0.04368	GCG			0.627	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000077728.1				A	3209870	G	A	3209870	3	1	117	1	0	0	0	0	1	0	0	0	14675	1087	38	1	758	1	SLC4A11	20	3209870	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		3209870	59815650	62	8794											
ZBED4	9889	mdanderson.org	37	chr22	50279862	50279862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgcagaacctgctgaGcctcgcccggaagatctgcg	8	7	14	12	3	1	3	0	1	1	2	2	5	1	4	3	2	5	2	3	2	2	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chr22:50279862G>T	ENST00000216268.5	+	2	3029	c.2552G>T	c.(2551-2553)aGc>aTc	p.S851I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	851						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		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)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AACCTGCTGAGCCTCGCCCGG	0.632																																					p.S851I													ZBED4,NS,carcinoma,+1,2	ZBED4	1	2	0			c.G2552T												32	30	31					22																	50279862		2203	4300	6503	SO:0001583	missense	9889	exon2			TGCTGAGCCTCGC	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2552G>T	22.37:g.50279862G>T	ENSP00000216268:p.Ser851Ile		57	0	0		50	0.06	3	NM_014838	26	0	0	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812925	0.50527	.	.	ENSG00000100426	ENST00000216268	T	0.23552	1.9	5.57	5.57	0.84162	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	T	0.50474	-0.8824	10	0.56958	D	0.05	-23.9141	19.5392	0.95267	0.0:0.0:1.0:0.0	.	851	O75132	ZBED4_HUMAN	I	851	ENSP00000216268:S851I	ENSP00000216268:S851I	S	+	2	0	ZBED4	48665866	1.000000	0.71417	0.076000	0.20297	0.019000	0.09904	9.220000	0.95180	2.602000	0.87976	0.655000	0.94253	AGC			0.632	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317408.2		NM_014838		T	50279862	G	T	50279862	3	4	117	1	0	0	0	0	1	0	0	0	17543	971	34	2	2554	2	ZBED4	22	50279862	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		50279862	1024704	63	8795											
STAG2	10735	mdanderson.org	37	chrX	123191755	123191755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggaggatggaatgatGaaaagaagaggaagacaagg	19	3	16	3	0	0	6	0	2	0	4	0	10	0	10	1	5	0	0	1	5	6	0			TCGA-XE-AAO3-01A-11D-A435-10	TCGA-XE-AAO3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	765d87ae-c060-43d6-bd02-548eeb78c0ec	bfa5e5f7-3f40-441f-a5ea-f48077e1495e	g.chrX:123191755G>T	ENST00000371160.1	+	15	1634	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	STAG2_ENST00000371157.3_Missense_Mutation_p.M448I|STAG2_ENST00000371144.3_Missense_Mutation_p.M448I|STAG2_ENST00000371145.3_Missense_Mutation_p.M448I|STAG2_ENST00000354548.5_Missense_Mutation_p.M379I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.M448I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	448					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						ATGGAATGATGAAAAGAAGAG	0.308																																					p.M448I													.	.			0			c.G1344T												153	138	143					X																	123191755		2203	4300	6503	SO:0001583	missense	10735	exon15			AATGATGAAAAGA	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.1344G>T	X.37:g.123191755G>T	ENSP00000360202:p.Met448Ile		64	0	0		129	0.04	5	NM_001042749	173	0	0	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332035	0.24167	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.40756	2.0;1.02;1.58;1.58;1.58;2.0;1.58	5.74	4.86	0.63082	Armadillo-type fold (1);	0.238066	0.44902	D	0.000420	T	0.22859	0.0552	N	0.08118	0	0.31353	N	0.682346	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.0	T	0.11542	-1.0583	10	0.36615	T	0.2	-11.9393	10.8677	0.46864	0.0:0.1483:0.6811:0.1706	.	448;448	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	448;448;379;448;448;448;448	ENSP00000218089:M448I;ENSP00000397265:M448I;ENSP00000346555:M379I;ENSP00000360202:M448I;ENSP00000360199:M448I;ENSP00000360187:M448I;ENSP00000360186:M448I	ENSP00000218089:M448I	M	+	3	0	STAG2	123019436	0.835000	0.29415	1.000000	0.80357	0.998000	0.95712	0.039000	0.13884	2.407000	0.81776	0.600000	0.82982	ATG			0.308	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000156159.2		NM_006603		T	123191755	G	T	123191755	3	4	117	1	0	0	0	0	1	0	0	0	15266	1290	45	3	1394	3	STAG2	23	123191755	Missense_Mutation	SNP	G	TCGA-XE-AAO3-01A-11D-A435-10		123191755	32078805	64	8796											
PUM1	9698	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	31441219	31441219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctggcatgcctgctgccaGaccttgtccaaatgcaaggg	9	8	11	13	0	0	1	0	0	0	1	1	1	1	1	5	2	4	3	5	2	2	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr1:31441219G>A	ENST00000257075.5	-	11	1720	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000373747.3_Silent_p.L544L|PUM1_ENST00000440538.2_Silent_p.L544L|PUM1_ENST00000423018.2_Silent_p.L447L|PUM1_ENST00000424085.2_Silent_p.L301L|PUM1_ENST00000373741.4_Silent_p.L579L|PUM1_ENST00000373742.2_Silent_p.L484L|PUM1_ENST00000426105.2_Silent_p.L543L	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	543	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCTGCTGCCAGACCTTGTCCA	0.532																																					p.L543L													.	PUM1	107		0			c.C1627T												88	79	82					1																	31441219		2203	4300	6503	SO:0001819	synonymous_variant	9698	exon11			CTGCCAGACCTTG	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.1627C>T	1.37:g.31441219G>A			129	0.007751938	1		95	0.14	13	NM_014676	8	0.38	3	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Silent	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018706	0.19355	.	.	ENSG00000134644	ENST00000525843;ENST00000498419;ENST00000532678	.	.	.	5.87	3.96	0.45880	.	.	.	.	.	T	0.63663	0.2530	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62849	-0.6767	4	.	.	.	-5.7998	12.7267	0.57174	0.1412:0.0:0.8588:0.0	.	.	.	.	F	560;254;230	.	.	S	-	2	0	PUM1	31213806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.765000	0.55272	1.598000	0.50083	0.655000	0.94253	TCT			0.532	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000010671.1				A	31441219	G	A	31441219	2	1	118	1	0	0	0	0	0	0	0	1	12848	933	33	3		3	PUM1	1	31441219	Silent	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		31441219	217809402	1	8797											
NOTCH2	4853	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	120468323	120468323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacagcctgactcgcagtcCcggggactggggcagaagca	9	4	15	13	2	0	2	0	1	0	1	2	3	1	3	2	4	2	4	2	4	1	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr1:120468323C>T	ENST00000256646.2	-	25	4335	c.4116G>A	c.(4114-4116)cgG>cgA	p.R1372R	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1372					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)		ACTCGCAGTCCCGGGGACTGG	0.652			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																												p.R1372R				Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2	348		0			c.G4116A												24	24	24					1																	120468323		2202	4294	6496	SO:0001819	synonymous_variant	4853	exon25	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GCAGTCCCGGGGA	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.4116G>A	1.37:g.120468323C>T			149	0.0067114094	1		126	0.2	25	NM_024408	3	0	0	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																					0.652	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033679.1		NM_024408		T	120468323	C	T	120468323	2	4	118	1	0	0	0	0	0	0	0	1	10565	610	22	3		3	NOTCH2	1	120468323	Silent	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	89027104	120468323	128782298	2	8798											
NME7	29922	broad.mit.edu	37	chr1	169272390	169272390	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaaggacctacttgaaaaAgggtcttgactggtgatcta	13	12	10	6	0	2	3	0	3	2	0	2	4	2	4	1	3	1	0	1	3	5	5			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr1:169272390A>G	ENST00000367811.3	-	5	689	c.433T>C	c.(433-435)Ttt>Ctt	p.F145L	NME7_ENST00000472647.1_Missense_Mutation_p.F109L|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	145					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TACTTGAAAAAGGGTCTTGAC	0.284																																					p.F145L													NME7,NS,carcinoma,0,1	NME7	34	1	0			c.T433C												59	57	58					1																	169272390		2203	4295	6498	SO:0001583	missense	29922	exon5			TGAAAAAGGGTCT	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.433T>C	1.37:g.169272390A>G	ENSP00000356785:p.Phe145Leu		474	0	0		522	0.01	6	NM_013330	19	0	0	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.112865	0.37242	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.79940	-1.32;-1.32	5.24	4.08	0.47627	.	0.106414	0.64402	D	0.000004	T	0.77198	0.4095	H	0.94808	3.585	0.52501	D	0.999950	B;B	0.21381	0.051;0.055	B;B	0.30029	0.068;0.11	T	0.72577	-0.4251	9	0.27082	T	0.32	-12.4035	9.8643	0.41134	0.8277:0.1723:0.0:0.0	.	149;145	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	L	109;145	ENSP00000433341:F109L;ENSP00000356785:F145L	ENSP00000356785:F145L	F	-	1	0	NME7	167539014	1.000000	0.71417	0.893000	0.35052	0.314000	0.28054	6.072000	0.71238	0.792000	0.33850	0.377000	0.23210	TTT			0.284	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083688.1		NM_013330		G	169272390	A	G	169272390	3	3	118	1	0	0	0	0	1	0	0	0	10513	72	3	4	729	4	NME7	1	169272390	Missense_Mutation	SNP	A	TCGA-XE-AAO4-01A-11D-A435-10	48804067	169272390	79978231	3	8799											
FMOD	2331	broad.mit.edu	37	chr1	203317121	203317121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacttgaggttgcgattgTcacagtacatggccgtgggg	7	11	16	7	2	1	1	1	1	0	0	1	2	1	1	1	5	3	3	1	5	2	5			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr1:203317121T>C	ENST00000354955.4	-	2	741	c.278A>G	c.(277-279)gAc>gGc	p.D93G	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	93	LRRNT.				carbohydrate metabolic process (GO:0005975)|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)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GTTGCGATTGTCACAGTACAT	0.592																																					p.D93G													.	FMOD	49		0			c.A278G												82	71	75					1																	203317121		2203	4300	6503	SO:0001583	missense	2331	exon2			CGATTGTCACAGT	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.278A>G	1.37:g.203317121T>C	ENSP00000347041:p.Asp93Gly		141	0	0		133	0.02	3	NM_002023	5	0	0	Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472280	0.84533	.	.	ENSG00000122176	ENST00000354955;ENST00000539467	D	0.97041	-4.22	5.16	5.16	0.70880	Leucine-rich repeat-containing N-terminal (2);	0.108034	0.64402	D	0.000007	D	0.97854	0.9295	M	0.77616	2.38	0.54753	D	0.999984	D	0.57571	0.98	P	0.59487	0.858	D	0.98442	1.0587	10	0.72032	D	0.01	.	13.8362	0.63410	0.0:0.0:0.0:1.0	.	93	Q06828	FMOD_HUMAN	G	93;73	ENSP00000347041:D93G	ENSP00000347041:D93G	D	-	2	0	FMOD	201583744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.943000	0.56356	0.460000	0.39030	GAC			0.592	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087472.1		NM_002023		C	203317121	T	C	203317121	3	2	118	1	0	0	0	0	1	0	0	0	5972	1667	58	4	860	4	FMOD	1	203317121	Missense_Mutation	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10	34044731	203317121	45933500	4	8800											
IKBKE	9641	mdanderson.org	37	chr1	206651589	206651589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcttcgaccagttctttgCggagaccagtgacatcctgc	7	10	12	12	2	1	2	0	1	1	1	3	4	2	2	3	2	2	2	3	2	0	3			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr1:206651589C>T	ENST00000367120.3	+	9	1272	c.899C>T	c.(898-900)gCg>gTg	p.A300V	IKBKE_ENST00000537984.1_Missense_Mutation_p.A215V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CAGTTCTTTGCGGAGACCAGT	0.602																																					p.A300V													.	.			0			c.C899T												164	135	144					1																	206651589		2203	4300	6503	SO:0001583	missense	9641	exon9			TCTTTGCGGAGAC	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.899C>T	1.37:g.206651589C>T	ENSP00000356087:p.Ala300Val		72	0	0		53	0.06	3	NM_014002	11	0	0	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.738215	0.89573	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.44482	0.92;1.77	5.31	5.31	0.75309	Protein kinase, catalytic domain (1);	0.168613	0.52532	D	0.000075	T	0.59004	0.2162	L	0.53249	1.67	0.32745	N	0.507121	D;D	0.76494	0.999;0.997	D;P	0.63793	0.918;0.851	T	0.64101	-0.6486	10	0.37606	T	0.19	-5.4135	18.9825	0.92760	0.0:1.0:0.0:0.0	.	215;300	Q3B754;Q14164	.;IKKE_HUMAN	V	300;215	ENSP00000356087:A300V;ENSP00000444529:A215V	ENSP00000356087:A300V	A	+	2	0	IKBKE	204718212	0.998000	0.40836	0.997000	0.53966	0.992000	0.81027	3.904000	0.56325	2.496000	0.84212	0.556000	0.70494	GCG			0.602	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088484.1				T	206651589	C	T	206651589	3	4	118	1	0	0	0	0	1	0	0	0	7627	768	27	1	925	1	IKBKE	1	206651589	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	3334468	206651589	42599032	5	8801											
CR1	1378	broad.mit.edu	37	chr1	207751172	207751172	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccttgtgggctacccccAaccatcgccaatggagattt	9	11	8	13	1	0	1	0	0	0	1	2	2	1	1	5	2	2	1	5	2	3	4	rs373191459	byFrequency	TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr1:207751172A>C	ENST00000367049.4	+	29	4560	c.4560A>C	c.(4558-4560)ccA>ccC	p.P1520P	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.P1070P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.P1070P|CR1_ENST00000367052.1_Silent_p.P1070P|CR1_ENST00000367053.1_Silent_p.P1070P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1070	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGCTACCCCCAACCATCGCCA	0.493													A|||	4	0.000798722	0.003	0	5008	,	,		19901	0		0	False		,,,				2504	0				p.P1520P													CR1_ENST00000367049,NS,carcinoma,+2,2	CR1	354	2	0			c.A4560C							A	,	5,3751		0,5,1873	117	104	108		3210,4560	-4.7	0	1		108	0,8230		0,0,4115	no	coding-synonymous,coding-synonymous	CR1	NM_000573.3,NM_000651.4	,	0,5,5988	CC,CA,AA		0.0,0.1331,0.0417	,	1070/2040,1520/2490	207751172	5,11981	1878	4115	5993	SO:0001819	synonymous_variant	1378	exon29			ACCCCCAACCATC	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4560A>C	1.37:g.207751172A>C			526	0	0		487	0.01	4	NM_000651	0		0	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																					0.493	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382527.1		NM_000573		C	207751172	A	C	207751172	2	2	118	1	0	0	0	0	0	0	0	1	3842	117	5	4		4	CR1	1	207751172	Silent	SNP	A	TCGA-XE-AAO4-01A-11D-A435-10	1099583	207751172	41499449	6	8802											
NVL	4931	hgsc.bcm.edu	37	chr1	224514122	224514122	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtaaatcagacgctaaGactccaatgtccacatattt	13	13	5	10	1	1	2	1	0	0	2	3	2	3	2	2	0	0	2	2	0	5	5			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr1:224514122G>T	ENST00000281701.6	-	2	361	c.102C>A	c.(100-102)gtC>gtA	p.V34V	NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Silent_p.V34V|NVL_ENST00000361463.3_Intron|NVL_ENST00000468673.1_5'UTR|NVL_ENST00000391875.2_Intron|NVL_ENST00000482491.1_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	34						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CAGACGCTAAGACTCCAATGT	0.318																																					p.V34V													.	.			0			c.C102A												101	103	102					1																	224514122		2203	4300	6503	SO:0001819	synonymous_variant	4931	exon2			CGCTAAGACTCCA	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.102C>A	1.37:g.224514122G>T			125	0	0		94	0.05	5	NM_001243147	7	0	0	B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	CCDS1541.1																																																																																					0.318	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000091453.2		NM_002533		T	224514122	G	T	224514122	2	4	118	1	0	0	0	0	0	0	0	1	10797	929	33	3		3	NVL	1	224514122	Silent	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	16762950	224514122	24736499	7	8803											
OBSCN	84033	broad.mit.edu;mdanderson.org	37	chr1	228505368	228505368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatggcctggcccccGgggagacctaccgcttccgt	4	8	15	14	3	0	1	0	0	0	1	1	3	1	2	6	6	1	1	6	6	1	2	rs532516650		TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr1:228505368G>C	ENST00000422127.1	+	52	13809	c.13765G>C	c.(13765-13767)Ggg>Cgg	p.G4589R	OBSCN_ENST00000570156.2_Missense_Mutation_p.G5546R|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2223R|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4589R|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1708R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4589	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGGCCCCCGGGGAGACCTA	0.677																																					p.G5546R													.	OBSCN	2142		0			c.G16636C												35	43	40					1																	228505368		2071	4192	6263	SO:0001583	missense	84033	exon63			GCCCCCGGGGAGA	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.13765G>C	1.37:g.228505368G>C	ENSP00000409493:p.Gly4589Arg		69	0	0		54	0.07	4	NM_001271223	1	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	34	5.331125	0.95733	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.51	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.82815	0.5119	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84609	0.0677	10	0.35671	T	0.21	.	17.4347	0.87548	0.0:0.0:1.0:0.0	.	4589;4589	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	4589;4589;2223;1708	ENSP00000284548:G4589R;ENSP00000409493:G4589R;ENSP00000355668:G2223R;ENSP00000355670:G1708R	ENSP00000284548:G4589R	G	+	1	0	OBSCN	226571991	1.000000	0.71417	0.970000	0.41538	0.934000	0.57294	9.176000	0.94839	2.368000	0.80403	0.479000	0.44913	GGG			0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		C	228505368	G	C	228505368	3	2	118	1	0	0	0	0	1	0	0	0	10829	1116	39	5	13967	5	OBSCN	1	228505368	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	3991246	228505368	20745253	8	8804											
FMN2	56776	mdanderson.org	37	chr1	240256211	240256211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaggccccgggcagtccgGacaccgagcaggcgctgtcc	6	3	17	15	4	0	0	0	0	0	0	2	3	2	2	5	5	1	3	5	5	0	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr1:240256211G>T	ENST00000319653.9	+	1	1032	c.802G>T	c.(802-804)Gac>Tac	p.D268Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	268					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGCAGTCCGGACACCGAGCA	0.796																																					p.D268Y													.	.			0			c.G802T												1	2	2					1																	240256211		1148	2701	3849	SO:0001583	missense	56776	exon1			AGTCCGGACACCG	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.802G>T	1.37:g.240256211G>T	ENSP00000318884:p.Asp268Tyr		14	0	0		9	0.22	2	NM_020066	6	0.33	2	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	3.002	-0.205867	0.06180	.	.	ENSG00000155816	ENST00000319653	T	0.39997	1.05	4.27	3.35	0.38373	.	0.327052	0.26404	N	0.024572	T	0.44829	0.1312	L	0.47716	1.5	0.27735	N	0.944661	D	0.56521	0.976	P	0.53809	0.735	T	0.36163	-0.9759	10	0.87932	D	0	.	7.6757	0.28484	0.1992:0.0:0.8007:0.0	.	268	Q9NZ56	FMN2_HUMAN	Y	268	ENSP00000318884:D268Y	ENSP00000318884:D268Y	D	+	1	0	FMN2	238322834	0.003000	0.15002	0.105000	0.21289	0.124000	0.20399	0.820000	0.27323	0.912000	0.36772	0.462000	0.41574	GAC			0.796	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		T	240256211	G	T	240256211	3	4	118	1	0	0	0	0	1	0	0	0	5963	1174	41	3	804	3	FMN2	1	240256211	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	11750843	240256211	8994410	9	8805											
AFTPH	54812	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	64778749	64778749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtagggtttgttgatttCgatacaccagattatactcg	9	15	11	6	2	0	2	0	1	0	1	2	3	0	2	1	2	2	3	1	2	4	7	rs113401509	byFrequency	TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr2:64778749C>A	ENST00000422803.1	+	2	455	c.141C>A	c.(139-141)ttC>ttA	p.F47L	AFTPH_ENST00000238855.7_Missense_Mutation_p.F47L|AFTPH_ENST00000409933.1_Missense_Mutation_p.F47L|AFTPH_ENST00000238856.4_Missense_Mutation_p.F47L|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	47					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						TTGTTGATTTCGATACACCAG	0.398													c|||	3	0.000599042	0.0015	0	5008	,	,		18602	0		0.001	False		,,,				2504	0				p.F47L													AFTPH_ENST00000238855,NS,carcinoma,0,2	AFTPH_ENST00000238855	0	2	0			c.C141A							T	LEU/PHE,LEU/PHE,LEU/PHE	7,4399	12.9+/-30.5	0,7,2196	143	148	146		141,141,141	2	1	2	dbSNP_132	146	2,8598	3.0+/-9.4	0,2,4298	yes	missense,missense,missense	AFTPH	NM_001002243.2,NM_017657.4,NM_203437.3	22,22,22	0,9,6494	AA,AC,CC		0.0233,0.1589,0.0692	probably-damaging,probably-damaging,probably-damaging	47/909,47/910,47/937	64778749	9,12997	2203	4300	6503	SO:0001583	missense	54812	exon2			TGATTTCGATACA	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.141C>A	2.37:g.64778749C>A	ENSP00000397726:p.Phe47Leu		221	0	0		185	0.1	18	NM_017657	2	0	0	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	c	14.37	2.516052	0.44763	0.001589	2.33E-4	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.63	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	L	0.60455	1.87	0.44227	D	0.99706	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.57244	0.816;0.816;0.816;0.816	T	0.03157	-1.1066	10	0.62326	D	0.03	-11.3967	10.7762	0.46350	0.0:0.2022:0.0:0.7978	.	47;47;47;47	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	L	47	ENSP00000238856:F47L;ENSP00000397726:F47L;ENSP00000238855:F47L;ENSP00000387071:F47L	ENSP00000238855:F47L	F	+	3	2	AFTPH	64632253	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.152000	0.31663	0.169000	0.19679	-1.073000	0.02249	TTC	0.001		0.398	AFTPH-202	KNOWN	basic	protein_coding	protein_coding				NM_017657		A	64778749	C	A	64778749	3	1	118	1	0	0	0	0	1	0	0	0	364	883	31	1	143	1	AFTPH	2	64778749	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10		64778749	178420624	10	8806											
EXOC6B	23233	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	72968493	72968493	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatagagtccacaaagccCtggtaatgaaagttgcacat	14	10	9	8	0	0	2	0	1	0	1	1	2	1	2	2	1	2	4	2	1	5	4			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr2:72968493C>G	ENST00000272427.6	-	2	349	c.219G>C	c.(217-219)caG>caC	p.Q73H	EXOC6B_ENST00000410104.1_Missense_Mutation_p.Q73H	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	73					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CCACAAAGCCCTGGTAATGAA	0.423																																					p.Q73H													.	.			0			c.G219C												179	172	174					2																	72968493		1852	4099	5951	SO:0001583	missense	23233	exon2			AAAGCCCTGGTAA	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.219G>C	2.37:g.72968493C>G	ENSP00000272427:p.Gln73His		171	0	0		171	0.22	37	NM_015189	3	0.33	1	B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182503	0.78677	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.29655	1.56;1.56	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	M	0.72624	2.21	0.80722	D	1	D;D	0.57571	0.98;0.964	D;P	0.69654	0.965;0.797	T	0.56950	-0.7894	10	0.56958	D	0.05	.	17.52	0.87784	0.0:1.0:0.0:0.0	.	73;73	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	H	73	ENSP00000272427:Q73H;ENSP00000386698:Q73H	ENSP00000272427:Q73H	Q	-	3	2	EXOC6B	72822001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.488000	0.45276	2.459000	0.83118	0.655000	0.94253	CAG			0.423	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327558.1		XM_039570		G	72968493	C	G	72968493	3	3	118	1	0	0	0	0	1	0	0	0	5316	680	24	5	2300	5	EXOC6B	2	72968493	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	8189744	72968493	170230880	11	8807											
HS6ST1	9394	broad.mit.edu	37	chr2	129025861	129025861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgcggctcctcaggcGctgctccctgcgctccagct	2	9	10	20	4	1	0	1	0	0	0	6	0	5	0	4	2	3	5	4	2	0	0	rs372735853		TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr2:129025861G>A	ENST00000259241.6	-	2	1124	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	371					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CTCCTCAGGCGCTGCTCCCTG	0.677													g|||	1	0.000199681	0	0	5008	,	,		18056	0		0.001	False		,,,				2504	0				p.R371C													HS6ST1,NS,carcinoma,+1,2	HS6ST1	31	2	0			c.C1111T							G	CYS/ARG	0,4216		0,0,2108	33	42	39		1111	3.2	1	2		39	1,8501		0,1,4250	no	missense	HS6ST1	NM_004807.2	180	0,1,6358	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	371/412	129025861	1,12717	2108	4251	6359	SO:0001583	missense	9394	exon2			TCAGGCGCTGCTC	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.1111C>T	2.37:g.129025861G>A	ENSP00000259241:p.Arg371Cys		201	0	0		123	0.02	3	NM_004807	4	0	0	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892743	0.72524	0.0	1.18E-4	ENSG00000136720	ENST00000259241	D	0.85629	-2.01	4.3	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.90407	0.6997	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89985	0.4103	9	.	.	.	-12.2845	11.3312	0.49477	0.0:0.0:0.7166:0.2833	.	371	O60243	H6ST1_HUMAN	C	371	ENSP00000259241:R371C	.	R	-	1	0	HS6ST1	128742331	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.176000	0.58269	2.099000	0.63709	0.462000	0.41574	CGC			0.677	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331572.1		NM_004807		A	129025861	G	A	129025861	3	1	118	1	0	0	0	0	1	0	0	0	7385	1087	38	1	128	1	HS6ST1	2	129025861	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	56057368	129025861	114173512	12	8808											
SDPR	8436	broad.mit.edu	37	chr2	192700837	192700837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccatccccgagttacTccccctggaggtcgccttct	4	11	9	17	2	1	0	0	0	1	0	5	2	4	1	6	2	1	2	6	2	1	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr2:192700837T>C	ENST00000304141.4	-	2	1419	c.1090A>G	c.(1090-1092)Agt>Ggt	p.S364G		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CCCGAGTTACTCCCCCTGGAG	0.577																																					p.S364G													.	SDPR	67		0			c.A1090G												131	123	126					2																	192700837		2203	4300	6503	SO:0001583	missense	8436	exon2			AGTTACTCCCCCT	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1090A>G	2.37:g.192700837T>C	ENSP00000305675:p.Ser364Gly		178	0.0056179775	1		188	0.03	5	NM_004657	8	0	0		Missense_Mutation	SNP	ENST00000304141.4	37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	T	6.000	0.368509	0.11352	.	.	ENSG00000168497	ENST00000304141	T	0.64085	-0.08	5.25	2.89	0.33648	.	0.633271	0.17120	N	0.186247	T	0.49201	0.1543	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31696	-0.9934	10	0.15952	T	0.53	-3.0555	8.0568	0.30610	0.0:0.2966:0.0:0.7034	.	364	O95810	SDPR_HUMAN	G	364	ENSP00000305675:S364G	ENSP00000305675:S364G	S	-	1	0	SDPR	192409082	0.011000	0.17503	0.344000	0.25628	0.110000	0.19582	0.718000	0.25866	0.466000	0.27193	-0.376000	0.06991	AGT			0.577	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334791.2		NM_004657		C	192700837	T	C	192700837	3	2	118	1	0	0	0	0	1	0	0	0	13993	1551	54	4	191	4	SDPR	2	192700837	Missense_Mutation	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10	63674976	192700837	50498536	13	8809											
ADAM23	8745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	207432037	207432037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagcctgccttttcaacagGccaacaaaggttagtaactt	12	10	9	10	0	1	0	1	0	0	0	1	1	1	1	3	3	5	2	3	3	5	5			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr2:207432037G>T	ENST00000264377.3	+	15	1813	c.1485G>T	c.(1483-1485)agG>agT	p.R495S	ADAM23_ENST00000374416.1_Missense_Mutation_p.R495S|ADAM23_ENST00000374415.3_Missense_Mutation_p.R495S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	495	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTTTCAACAGGCCAACAAAGG	0.413																																					p.R495S	Melanoma(194;1127 2130 19620 24042 27855)												.	.			0			c.G1485T												64	65	64					2																	207432037		2203	4300	6503	SO:0001583	missense	8745	exon15			CAACAGGCCAACA	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1485G>T	2.37:g.207432037G>T	ENSP00000264377:p.Arg495Ser		115	0	0		162	0.13	21	NM_003812	56	0.16	9	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854964	0.71719	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.62788	0.0;0.0;0.0	5.94	-1.17	0.09648	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	T	0.54615	0.1869	L	0.44542	1.39	0.58432	D	0.999995	P	0.42993	0.797	P	0.45660	0.489	T	0.49204	-0.8964	10	0.39692	T	0.17	.	11.2986	0.49292	0.4552:0.0:0.5448:0.0	.	495	O75077	ADA23_HUMAN	S	495;495;389;495	ENSP00000264377:R495S;ENSP00000363537:R495S;ENSP00000363536:R495S	ENSP00000264377:R495S	R	+	3	2	ADAM23	207140282	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	0.780000	0.26760	-0.546000	0.06216	0.561000	0.74099	AGG			0.413	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256431.2		NM_003812		T	207432037	G	T	207432037	3	4	118	1	0	0	0	0	1	0	0	0	245	1194	42	2	1543	2	ADAM23	2	207432037	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	14731200	207432037	35767336	14	8810											
THAP4	51078	mdanderson.org	37	chr2	242545856	242545856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccagcatccaggacaGtggctccaccactgggttca	8	7	12	14	0	1	0	1	0	0	0	3	1	3	1	4	4	2	3	4	4	0	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr2:242545856G>T	ENST00000407315.1	-	3	1704	c.1273C>A	c.(1273-1275)Ctg>Atg	p.L425M	THAP4_ENST00000402545.1_Missense_Mutation_p.L13M|THAP4_ENST00000402136.1_Missense_Mutation_p.L13M	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	425							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		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;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ATCCAGGACAGTGGCTCCACC	0.587																																					p.L425M													.	.			0			c.C1273A												33	28	30					2																	242545856		2203	4296	6499	SO:0001583	missense	51078	exon3			AGGACAGTGGCTC	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1273C>A	2.37:g.242545856G>T	ENSP00000385006:p.Leu425Met		78	0	0		41	0.07	3	NM_015963	119	0.01	1	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.123221	0.77436	.	.	ENSG00000176946	ENST00000402136;ENST00000407315;ENST00000402545;ENST00000512346	D	0.98234	-4.81	4.92	4.03	0.46877	Domain of unknown function DUF1794 (1);Calycin-like (1);	0.000000	0.46758	D	0.000270	D	0.98488	0.9496	M	0.68317	2.08	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.981	D	0.98962	1.0798	10	0.72032	D	0.01	-20.1851	12.3227	0.54993	0.0833:0.0:0.9167:0.0	.	425;13	Q8WY91;Q8WY91-2	THAP4_HUMAN;.	M	13;425;13;100	ENSP00000385006:L425M	ENSP00000385931:L13M	L	-	1	2	THAP4	242194529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.522000	0.67092	1.045000	0.40225	0.655000	0.94253	CTG			0.587	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257267.3		NM_015963		T	242545856	G	T	242545856	3	4	118	1	0	0	0	0	1	0	0	0	15869	1020	36	3	476	3	THAP4	2	242545856	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	35113819	242545856	653517	15	8811											
PTPN23	25930	mdanderson.org	37	chr3	47453110	47453110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcacagctgctgacttctgGctcatggtccatgagcagaa	9	9	12	11	0	2	3	1	2	1	1	3	3	3	3	1	3	3	5	1	3	1	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr3:47453110G>T	ENST00000265562.4	+	20	3899	c.3822G>T	c.(3820-3822)tgG>tgT	p.W1274C	PTPN23_ENST00000431726.1_Missense_Mutation_p.W1148C	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1274	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGACTTCTGGCTCATGGTCC	0.592																																					p.W1274C													.	.			0			c.G3822T												36	35	35					3																	47453110		2202	4300	6502	SO:0001583	missense	25930	exon20			CTTCTGGCTCATG	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3822G>T	3.37:g.47453110G>T	ENSP00000265562:p.Trp1274Cys		44	0	0		40	0.08	3	NM_015466	32	0	0	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469212	0.63625	.	.	ENSG00000076201	ENST00000265562	D	0.92752	-3.1	4.62	4.62	0.57501	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99486	1.0949	10	0.87932	D	0	-12.4015	16.3982	0.83630	0.0:0.0:1.0:0.0	.	1148;1274	B4DST5;Q9H3S7	.;PTN23_HUMAN	C	1274	ENSP00000265562:W1274C	ENSP00000265562:W1274C	W	+	3	0	PTPN23	47428114	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.221000	0.95188	2.389000	0.81357	0.563000	0.77884	TGG			0.592	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257492.2		NM_015466		T	47453110	G	T	47453110	3	4	118	1	0	0	0	0	1	0	0	0	12811	1212	42	2	3900	2	PTPN23	3	47453110	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		47453110	150569320	16	8812											
PSMD6	9861	bcgsc.ca;mdanderson.org	37	chr3	64008194	64008194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggcttcatagtaaggagCcatgtctaacatgcaaaaag	16	8	9	8	0	2	0	1	0	1	0	2	1	2	1	1	2	3	3	1	2	6	4			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr3:64008194C>T	ENST00000295901.4	-	2	291	c.151G>A	c.(151-153)Gct>Act	p.A51T	PSMD6_ENST00000394431.2_Missense_Mutation_p.A13T|PSMD6_ENST00000482510.1_Missense_Mutation_p.A12T|RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000492933.1_Missense_Mutation_p.A104T	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	51					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)|ATP catabolic process (GO:0006200)|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)|proteolysis (GO:0006508)|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)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TAGTAAGGAGCCATGTCTAAC	0.488																																					p.A104T													.	PSMD6	30		0			c.G310A												112	104	106					3																	64008194		2203	4300	6503	SO:0001583	missense	9861	exon3			AAGGAGCCATGTC	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"Proteasome (prosome, macropain) subunits"	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.151G>A	3.37:g.64008194C>T	ENSP00000295901:p.Ala51Thr		126	0	0		92	0.05	5	NM_001271779	148	0	0	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810175	0.90707	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	.	.	.	4.93	4.93	0.64822	.	0.048575	0.85682	D	0.000000	T	0.76637	0.4015	M	0.92317	3.295	0.80722	D	1	B;B;P;B	0.36753	0.409;0.414;0.568;0.275	B;B;B;B	0.38106	0.12;0.126;0.265;0.213	T	0.80502	-0.1354	9	0.40728	T	0.16	-4.6465	18.337	0.90291	0.0:1.0:0.0:0.0	.	13;12;104;51	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	T	51;104;13;12;65;72	.	ENSP00000295901:A51T	A	-	1	0	PSMD6	63983234	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.514000	0.81750	2.555000	0.86185	0.655000	0.94253	GCT			0.488	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352082.1		NM_014814		T	64008194	C	T	64008194	3	4	118	1	0	0	0	0	1	0	0	0	12722	739	26	2	1046	2	PSMD6	3	64008194	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	16555084	64008194	134014236	17	8813											
WHSC2	7469	broad.mit.edu;bcgsc.ca	37	chr4	2010671	2010671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacaggcccgtgtcgctctCccgcatggacgccatcttgg	5	8	11	17	4	2	0	0	0	2	0	4	1	2	1	4	3	0	2	4	3	0	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr4:2010671C>T	ENST00000411638.2	-	1	31	c.16G>A	c.(16-18)Gag>Aag	p.E6K	NELFA_ENST00000542778.1_5'UTR|NELFA_ENST00000382882.3_Missense_Mutation_p.E17K	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	6					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)										GTGTCGCTCTCCCGCATGGAC	0.697																																					p.E17K													.	.			0			c.G49A												19	19	19					4																	2010671		2186	4267	6453	SO:0001583	missense	7469	exon1			CGCTCTCCCGCAT	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.16G>A	4.37:g.2010671C>T	ENSP00000399165:p.Glu6Lys		91	0.010989011	1		70	0.19	13	NM_005663	17	0.53	9	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.	.	.	.	.	.	.	.	.	.	C	15.28	2.786884	0.49997	.	.	ENSG00000185049	ENST00000382882;ENST00000411638;ENST00000431323	T;T;T	0.30981	1.51;1.51;1.51	3.19	2.32	0.28847	.	0.070437	0.56097	D	0.000026	T	0.26810	0.0656	L	0.44542	1.39	0.80722	D	1	B	0.25904	0.137	B	0.26969	0.075	T	0.13926	-1.0491	10	0.66056	D	0.02	-24.1193	12.3437	0.55109	0.0:0.8279:0.1721:0.0	.	6	Q9H3P2	NELFA_HUMAN	K	17;6;17	ENSP00000372335:E17K;ENSP00000399165:E6K;ENSP00000395761:E17K	ENSP00000330311:E6K	E	-	1	0	WHSC2	1980469	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	6.817000	0.75252	0.666000	0.31087	-0.502000	0.04539	GAG			0.697	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000473007.1		NM_005663		T	2010671	C	T	2010671	3	4	118	1	0	0	0	0	1	0	0	0	17388	864	30	3	1614	3	WHSC2	4	2010671	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10		2010671	189143605	18	8814											
YTHDC1	91746	broad.mit.edu	37	chr4	69202915	69202915	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcctcctcttccTcctcctcctcttcctcctcc	0	15	0	26	0	2	0	0	0	2	0	13	0	13	0	12	0	0	0	12	0	0	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr4:69202915T>A	ENST00000344157.4	-	4	1048	c.713A>T	c.(712-714)gAg>gTg	p.E238V	YTHDC1_ENST00000355665.3_Missense_Mutation_p.E238V|YTHDC1_ENST00000579690.1_Missense_Mutation_p.E238V	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	238	Glu-rich.				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						ctcctcttcctcctcctcctc	0.478																																					p.E238V													.	YTHDC1	81		0			c.A713T												127	90	103					4																	69202915		2203	4300	6503	SO:0001583	missense	91746	exon4			TCTTCCTCCTCCT	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.713A>T	4.37:g.69202915T>A	ENSP00000339245:p.Glu238Val		127	0.0078740157	1		85	0.06	5	NM_001031732	5	0	0	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	3.425	-0.117277	0.06838	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30714	1.76;1.52	4.54	3.34	0.38264	.	0.251995	0.29707	N	0.011412	T	0.16428	0.0395	N	0.14661	0.345	0.36590	D	0.874031	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.002	T	0.10154	-1.0642	10	0.31617	T	0.26	.	7.9574	0.30051	0.1828:0.0:0.0:0.8171	.	238;238	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	V	238	ENSP00000339245:E238V;ENSP00000347888:E238V	ENSP00000339245:E238V	E	-	2	0	YTHDC1	68885510	0.532000	0.26346	0.035000	0.18076	0.002000	0.02628	4.957000	0.63652	0.847000	0.35167	-0.542000	0.04241	GAG			0.478	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251437.1		NM_133370		A	69202915	T	A	69202915	3	1	118	1	0	0	0	0	1	0	0	0	17520	1551	54	5	1526	5	YTHDC1	4	69202915	Missense_Mutation	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10	67192244	69202915	121951361	19	8815											
CYP2U1	113612	mdanderson.org	37	chr4	108853256	108853256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcagcgaccgcccgcggGtgccgctcatctccatcgtg	4	9	11	17	6	4	0	2	0	2	0	6	1	4	0	4	1	2	1	4	1	0	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr4:108853256G>A	ENST00000332884.6	+	1	732	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	RP11-286E11.1_ENST00000499098.1_RNA|CYP2U1_ENST00000513302.1_3'UTR|CYP2U1_ENST00000508453.1_5'UTR|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	153					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)		CCGCCCGCGGGTGCCGCTCAT	0.667																																					p.V153M													.	.			0			c.G457A												8	8	8					4																	108853256		2172	4238	6410	SO:0001583	missense	113612	exon1			CCGCGGGTGCCGC	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.457G>A	4.37:g.108853256G>A	ENSP00000333212:p.Val153Met		50	0	0		33	0.09	3	NM_183075	0		0	B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311250	0.40895	.	.	ENSG00000155016	ENST00000332884;ENST00000424249	T	0.68181	-0.31	4.47	-0.913	0.10500	.	0.508862	0.21441	N	0.074485	T	0.36717	0.0977	N	0.11870	0.19	0.80722	D	1	B	0.06786	0.001	B	0.19666	0.026	T	0.03335	-1.1047	10	0.19147	T	0.46	.	1.3786	0.02225	0.3362:0.1367:0.3874:0.1397	.	153	Q7Z449	CP2U1_HUMAN	M	153;110	ENSP00000333212:V153M	ENSP00000333212:V153M	V	+	1	0	CYP2U1	109072705	0.264000	0.24093	0.995000	0.50966	0.977000	0.68977	-0.203000	0.09438	-0.092000	0.12417	0.644000	0.83932	GTG			0.667	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363691.2		NM_183075		A	108853256	G	A	108853256	3	1	118	1	0	0	0	0	1	0	0	0	4177	1261	44	3	459	3	CYP2U1	4	108853256	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	39650341	108853256	82301020	20	8816											
ARRDC3	57561	mdanderson.org	37	chr5	90667229	90667229	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgttccttcaacgagagggGcaggatggtctatcatctgc	8	11	13	9	1	4	1	2	0	2	1	5	3	5	2	1	4	2	2	1	4	2	3			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr5:90667229G>T	ENST00000265138.3	-	8	1499	c.1233C>A	c.(1231-1233)tgC>tgA	p.C411*		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	411					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		AACGAGAGGGGCAGGATGGTC	0.423																																					p.C411X													.	.			0			c.C1233A												88	73	78					5																	90667229		2203	4300	6503	SO:0001587	stop_gained	57561	exon8			AGAGGGGCAGGAT	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1233C>A	5.37:g.90667229G>T	ENSP00000265138:p.Cys411*		62	0	0		43	0.07	3	NM_020801	6	0	0	A8K6T8|Q9P2H1	Nonsense_Mutation	SNP	ENST00000265138.3	37	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	39	7.299924	0.98196	.	.	ENSG00000113369	ENST00000265138	.	.	.	5.85	4.09	0.47781	.	0.041093	0.85682	D	0.000000	.	.	.	.	.	.	0.46416	D	0.999037	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.1844	12.5717	0.56341	0.1335:0.0:0.8665:0.0	.	.	.	.	X	411	.	ENSP00000265138:C411X	C	-	3	2	ARRDC3	90702985	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.142000	0.42177	0.840000	0.34995	-0.122000	0.15005	TGC			0.423	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369763.2		NM_020801		T	90667229	G	T	90667229	4	4	118	1	0	0	0	0	0	1	0	0	984	1195	42	2	15	2	ARRDC3	5	90667229	Nonsense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		90667229	90248031	21	8817											
H2AFY	9555	mdanderson.org	37	chr5	134678955	134678955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatgtgcccctacctgccGctgccgatggatggaaatgc	8	8	12	13	2	0	0	0	0	0	0	0	3	0	2	5	2	6	2	5	2	2	1	rs149002266	byFrequency	TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr5:134678955G>A	ENST00000511689.1	-	8	1541	c.948C>T	c.(946-948)agC>agT	p.S316S	H2AFY_ENST00000510038.1_Silent_p.S316S|H2AFY_ENST00000423969.2_Silent_p.S144S|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000312469.4_Silent_p.S313S|H2AFY_ENST00000304332.4_Silent_p.S315S|CTC-349C3.1_ENST00000432382.3_Silent_p.P79P	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	316	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTACCTGCCGCTGCCGATGG	0.507													G|||	8	0.00159744	0.0053	0.0014	5008	,	,		22822	0		0	False		,,,				2504	0				p.S316S													.	.			0			c.C948T							G	,,,	22,4384	28.1+/-56.4	0,22,2181	157	148	151		945,945,939,948	-11.2	0.2	5	dbSNP_134	151	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	H2AFY	NM_001040158.1,NM_004893.2,NM_138609.2,NM_138610.2	,,,	0,22,6481	AA,AG,GG		0.0,0.4993,0.1692	,,,	315/372,315/372,313/370,316/373	134678955	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	9555	exon8			CCTGCCGCTGCCG	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.948C>T	5.37:g.134678955G>A			51	0	0		35	0.09	3	NM_138610	470	0	0	O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	CCDS4185.1																																																																																			0.002		0.507	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251196.3		NM_004893		A	134678955	G	A	134678955	2	1	118	1	0	0	0	0	0	0	0	1	6944	1078	38	1		1	H2AFY	5	134678955	Silent	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	44011726	134678955	46236305	22	8818											
CDC25C	995	mdanderson.org	37	chr5	137622859	137622859	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacaatgtcgtctcaccTggatgtgtcctcccagatac	8	10	9	14	1	1	1	1	0	1	1	5	2	3	2	4	2	1	0	4	2	2	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr5:137622859T>C	ENST00000323760.6	-	11	1303	c.1025A>G	c.(1024-1026)cAg>cGg	p.Q342R	CDC25C_ENST00000513970.1_Splice_Site_p.Q342R|CDC25C_ENST00000415130.2_Splice_Site_p.Q269R|CDC25C_ENST00000357274.3_Splice_Site_p.Q299R|CDC25C_ENST00000356505.3_Splice_Site_p.Q312R|CDC25C_ENST00000348983.3_Splice_Site_p.Q269R|CDC25C_ENST00000514555.1_Splice_Site_p.Q312R	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	342	HIV-1 Vpr binding site.|Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCGTCTCACCTGGATGTGTCC	0.478																																					p.Q342R													.	.			0			c.A1025G												100	98	99					5																	137622859		2203	4300	6503	SO:0001630	splice_region_variant	995	exon11			CTCACCTGGATGT	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1026+1A>G	5.37:g.137622859T>C			80	0	0		55	0.05	3	NM_001790	28	0	0	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220907	0.58560	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	4.98	2.49	0.30216	Rhodanese-like (5);	0.406125	0.25030	N	0.033688	T	0.14743	0.0356	N	0.02539	-0.55	0.31222	N	0.697305	D;D;P;D	0.54964	0.961;0.969;0.956;0.968	P;P;P;P	0.53518	0.728;0.728;0.61;0.725	T	0.08006	-1.0743	10	0.41790	T	0.15	-3.4267	6.2455	0.20815	0.1463:0.0803:0.0:0.7734	.	359;312;269;342	G3V1P6;P30307-2;P30307-4;P30307	.;.;.;MPIP3_HUMAN	R	342;312;299;269;269;342;359;312	ENSP00000321656:Q342R;ENSP00000348898:Q312R;ENSP00000349821:Q299R;ENSP00000345205:Q269R;ENSP00000392631:Q269R;ENSP00000424795:Q342R;ENSP00000425470:Q312R	ENSP00000321656:Q342R	Q	-	2	0	CDC25C	137650758	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.717000	0.47227	0.429000	0.26202	0.533000	0.62120	CAG			0.478	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251280.1			Missense_Mutation	C	137622859	T	C	137622859	5	2	118	1	0	0	0	0	0	0	1	0	3066	1594	55	4	412	4	CDC25C	5	137622859	Splice_Site	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10	2943904	137622859	43292401	23	8819											
ATP10B	23120	mdanderson.org	37	chr5	160114833	160114833	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattgctcaaagagattccgGggcaggaaggtgaagagggt	13	7	16	5	1	1	3	1	1	0	2	2	5	2	4	1	5	1	2	1	5	4	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr5:160114833G>T	ENST00000327245.5	-	5	1095	c.249C>A	c.(247-249)ccC>ccA	p.P83P	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	83					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)			AGAGATTCCGGGGCAGGAAGG	0.458																																					p.P83P													.	.			0			c.C249A												183	187	186					5																	160114833		1929	4127	6056	SO:0001819	synonymous_variant	23120	exon5			ATTCCGGGGCAGG	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.249C>A	5.37:g.160114833G>T			210	0	0		121	0.04	5	NM_025153	0		0	Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																					0.458	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374127.1		NM_025153		T	160114833	G	T	160114833	2	4	118	1	0	0	0	0	0	0	0	1	1117	1219	43	3		3	ATP10B	5	160114833	Silent	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	22491974	160114833	20800427	24	8820											
ABCF1	23	broad.mit.edu	37	chr6	30557690	30557690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaccaggatgcccgcaaGtgcctgggccgcttcggcct	5	7	12	17	3	0	0	0	0	0	0	1	1	0	1	6	3	3	2	6	3	2	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr6:30557690G>T	ENST00000326195.8	+	22	2284	c.2172G>T	c.(2170-2172)aaG>aaT	p.K724N	ABCF1_ENST00000376545.3_Missense_Mutation_p.K686N|ABCF1_ENST00000396515.4_Missense_Mutation_p.K117N	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	724	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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						ATGCCCGCAAGTGCCTGGGCC	0.617																																					p.K724N													.	ABCF1	61		0			c.G2172T												138	155	149					6																	30557690		1511	2709	4220	SO:0001583	missense	23	exon22			CCGCAAGTGCCTG	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.2172G>T	6.37:g.30557690G>T	ENSP00000313603:p.Lys724Asn		87	0	0		60	0.05	3	NM_001025091	140	0	0	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.872369	0.51695	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000396515	T;D;T	0.94138	1.42;-3.36;3.31	5.94	5.07	0.68467	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.81288	0.4791	N	0.11927	0.2	0.58432	D	0.999999	P;P;P	0.37370	0.592;0.592;0.592	B;B;B	0.41135	0.348;0.241;0.241	D	0.83952	0.0317	10	0.62326	D	0.03	-33.6584	7.9635	0.30085	0.236:0.0:0.764:0.0	.	117;686;724	Q5STZ7;Q2L6I2;Q8NE71	.;.;ABCF1_HUMAN	N	724;686;117	ENSP00000313603:K724N;ENSP00000365728:K686N;ENSP00000379772:K117N	ENSP00000313603:K724N	K	+	3	2	ABCF1	30665669	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.440000	0.52886	1.516000	0.48900	0.651000	0.88453	AAG			0.617	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000076137.3				T	30557690	G	T	30557690	3	4	118	1	0	0	0	0	1	0	0	0	65	1020	36	3	2258	3	ABCF1	6	30557690	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		30557690	140557377	25	8821											
TMEM63B	55362	mdanderson.org	37	chr6	44114585	44114585	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacatgaactgtgtttcaggGaagcctaccccaactgcaca	12	9	8	12	0	1	1	1	1	0	0	1	2	1	2	3	1	6	2	3	1	5	3			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr6:44114585G>T	ENST00000259746.9	+	11	967	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	TMEM63B_ENST00000323267.6_Splice_Site_p.E262*			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	262					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)			GTGTTTCAGGGAAGCCTACCC	0.557																																					p.E262X													.	.			0			c.G784T												121	104	109					6																	44114585		2203	4300	6503	SO:0001630	splice_region_variant	55362	exon11			TTCAGGGAAGCCT	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.783-1G>T	6.37:g.44114585G>T			106	0	0		78	0.08	6	NM_018426	34	0	0	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Nonsense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.700255|4.700255	0.88924|0.88924	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000323267|ENST00000371893	.|.	.|.	.|.	4.37|4.37	4.37|4.37	0.52481|0.52481	.|.	0.347798|.	0.30602|.	N|.	0.009269|.	.|T	.|0.63977	.|0.2557	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64478	.|-0.6398	.|3	0.41790|.	T|.	0.15|.	.|.	16.4459|16.4459	0.83932|0.83932	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	262|190	.|.	ENSP00000259746:E262X|.	E|R	+|+	1|3	0|2	TMEM63B|TMEM63B	44222563|44222563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	4.468000|4.468000	0.60162|0.60162	2.418000|2.418000	0.82041|0.82041	0.650000|0.650000	0.86243|0.86243	GAA|AGG			0.557	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040712.2		XM_166410	Nonsense_Mutation	T	44114585	G	T	44114585	5	4	118	1	0	0	0	0	0	0	1	0	16214	1188	41	3	822	3	TMEM63B	6	44114585	Splice_Site	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	13556895	44114585	127000482	26	8822											
FAM83B	222584	broad.mit.edu	37	chr6	54806078	54806078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccccaagttttttgaaaaAggggtctcagaagttaaggt	12	13	10	6	0	1	2	1	1	1	1	3	2	2	2	2	3	0	2	2	3	5	5			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr6:54806078A>G	ENST00000306858.7	+	5	2425	c.2309A>G	c.(2308-2310)aAg>aGg	p.K770R	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	770										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)					TTTTTGAAAAAGGGGTCTCAG	0.363																																					p.K770R													FAM83B,right_upper_lobe,carcinoma,0,1	FAM83B	186	1	0			c.A2309G												53	56	55					6																	54806078		2203	4300	6503	SO:0001583	missense	222584	exon5			TGAAAAAGGGGTC	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.2309A>G	6.37:g.54806078A>G	ENSP00000304078:p.Lys770Arg		181	0.0055248619	1		166	0.02	4	NM_001010872	0		0	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.283144	0.59867	.	.	ENSG00000168143	ENST00000306858	T	0.12039	2.72	5.63	4.47	0.54385	.	0.065633	0.64402	N	0.000008	T	0.08492	0.0211	M	0.71581	2.175	0.46701	D	0.999164	B	0.22541	0.071	B	0.17722	0.019	T	0.02625	-1.1132	10	0.62326	D	0.03	-25.7974	11.2864	0.49224	0.9288:0.0:0.0712:0.0	.	770	Q5T0W9	FA83B_HUMAN	R	770	ENSP00000304078:K770R	ENSP00000304078:K770R	K	+	2	0	FAM83B	54914037	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.511000	0.60462	0.979000	0.38497	0.533000	0.62120	AAG			0.363	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040994.1		XM_294139		G	54806078	A	G	54806078	3	3	118	1	0	0	0	0	1	0	0	0	5647	72	3	4	2323	4	FAM83B	6	54806078	Missense_Mutation	SNP	A	TCGA-XE-AAO4-01A-11D-A435-10	10691493	54806078	116308989	27	8823											
NPC1L1	29881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	44555488	44555488	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaggcggaagaagaagAtctgaatgagctgggccttg	11	8	17	5	1	1	6	0	3	1	3	1	7	1	7	1	4	1	2	1	4	4	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr7:44555488A>T	ENST00000289547.4	-	19	3846	c.3791T>A	c.(3790-3792)aTc>aAc	p.I1264N	NPC1L1_ENST00000546276.1_Missense_Mutation_p.I1191N|NPC1L1_ENST00000381160.3_Missense_Mutation_p.I1237N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1264					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)	GAAGAAGAAGATCTGAATGAG	0.612																																					p.I1264N													.	.			0			c.T3791A												69	70	70					7																	44555488		2203	4300	6503	SO:0001583	missense	29881	exon19			AAGAAGATCTGAA		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.3791T>A	7.37:g.44555488A>T	ENSP00000289547:p.Ile1264Asn		108	0	0		87	0.16	14	NM_013389	0		0	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153496	0.78114	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.87412	-2.25;-2.25;-2.25	5.49	5.49	0.81192	.	0.051986	0.64402	D	0.000001	D	0.93884	0.8043	M	0.87971	2.92	0.49582	D	0.999808	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;0.997;1.0	D	0.94745	0.7922	10	0.87932	D	0	-37.6642	13.5148	0.61535	1.0:0.0:0.0:0.0	.	1191;1237;1264	B7ZLE6;Q17RV5;D3DVK9	.;.;.	N	1264;1237;1191	ENSP00000289547:I1264N;ENSP00000370552:I1237N;ENSP00000438033:I1191N	ENSP00000289547:I1264N	I	-	2	0	NPC1L1	44522013	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	8.575000	0.90766	2.092000	0.63282	0.459000	0.35465	ATC			0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251256.1		NM_013389		T	44555488	A	T	44555488	3	4	118	1	0	0	0	0	1	0	0	0	10588	333	12	5	296	5	NPC1L1	7	44555488	Missense_Mutation	SNP	A	TCGA-XE-AAO4-01A-11D-A435-10		44555488	114583175	28	8824											
GTF2I	2969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	74105442	74105442	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaagattttgtaaaataTtgtaagcattgtatttttat	16	18	5	2	0	0	1	0	0	0	1	0	1	0	1	0	0	1	4	0	0	8	11			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr7:74105442T>C	ENST00000324896.4	+	3	626	c.237T>C	c.(235-237)taT>taC	p.Y79Y	GTF2I_ENST00000443166.1_Splice_Site_p.Y79Y|GTF2I_ENST00000346152.4_Splice_Site_p.Y79Y|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Splice_Site_p.Y79Y|GTF2I_ENST00000353920.4_Splice_Site_p.Y79Y	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	79					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTGTAAAATATTGTAAGCATT	0.294																																					p.Y79Y													.	.			0			c.T237C												52	54	53					7																	74105442		2203	4300	6503	SO:0001630	splice_region_variant	2969	exon3			AAAATATTGTAAG	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.238+1T>C	7.37:g.74105442T>C			236	0	0		235	0.11	27	NM_032999	42	0.14	6	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Silent	SNP	ENST00000324896.4	37	CCDS5573.1																																																																																					0.294	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252708.1		NM_032999	Silent	C	74105442	T	C	74105442	5	2	118	1	0	0	0	0	0	0	1	0	6882	1507	52	4	243	4	GTF2I	7	74105442	Splice_Site	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10	29549954	74105442	85033221	29	8825											
PVRIG	79037	mdanderson.org	37	chr7	99818409	99818409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctaggctccagccgtcccGcaccagcccccaggcaccga	7	3	9	22	3	0	0	0	0	0	0	2	1	2	0	8	2	2	3	8	2	1	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr7:99818409G>T	ENST00000317271.2	+	5	986	c.623G>T	c.(622-624)cGc>cTc	p.R208L	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|AC005071.1_ENST00000410550.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	208						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCGTCCCGCACCAGCCCC	0.697																																					p.R208L													.	.			0			c.G623T												42	45	44					7																	99818409		2203	4300	6503	SO:0001583	missense	79037	exon5			CGTCCCGCACCAG	BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.623G>T	7.37:g.99818409G>T	ENSP00000316675:p.Arg208Leu		40	0	0		38	0.08	3	NM_024070	58	0	0	D6W5U9|Q9BVK3	Missense_Mutation	SNP	ENST00000317271.2	37	CCDS5690.1	.	.	.	.	.	.	.	.	.	.	g	1.338	-0.594916	0.03771	.	.	ENSG00000213413	ENST00000317271	T	0.42900	0.96	2.78	-5.57	0.02521	.	.	.	.	.	T	0.18718	0.0449	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17592	-1.0364	9	0.24483	T	0.36	.	4.6381	0.12534	0.496:0.0:0.2943:0.2097	.	208	Q6DKI7	PVRIG_HUMAN	L	208	ENSP00000316675:R208L	ENSP00000316675:R208L	R	+	2	0	PVRIG	99656345	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.741000	0.00798	-1.378000	0.02120	-2.261000	0.00279	CGC			0.697	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345870.2		NM_024070		T	99818409	G	T	99818409	3	4	118	1	0	0	0	0	1	0	0	0	12861	1087	38	1	637	1	PVRIG	7	99818409	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	25712967	99818409	59320254	30	8826											
MDFIC	29969	broad.mit.edu	37	chr7	114582420	114582420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaagaccagtccatttGgggaaatccttcggatggtg	10	10	13	8	1	0	1	0	0	0	1	3	4	2	3	3	4	1	1	3	4	2	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr7:114582420G>T	ENST00000393486.1	+	3	775	c.185G>T	c.(184-186)tGg>tTg	p.W62L	MDFIC_ENST00000257724.3_Missense_Mutation_p.W171L	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CAGTCCATTTGGGGAAATCCT	0.338																																					p.W171L													MDFIC,NS,carcinoma,-1,1	MDFIC	30	1	0			c.G512T												73	72	72					7																	114582420		2203	4300	6503	SO:0001583	missense	29969	exon3			CCATTTGGGGAAA	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.185G>T	7.37:g.114582420G>T	ENSP00000377126:p.Trp62Leu		518	0.0019305019	1		538	0.01	6	NM_199072	2	0	0		Missense_Mutation	SNP	ENST00000393486.1	37	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807348	0.31961	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.63	5.63	0.86233	.	0.424962	0.25159	N	0.032688	T	0.63558	0.2521	M	0.63428	1.95	0.80722	D	1	D	0.60575	0.988	P	0.56343	0.796	T	0.57688	-0.7768	9	0.08599	T	0.76	-3.1995	12.5267	0.56089	0.0:0.0:0.8337:0.1663	.	62	Q9P1T7	MDFIC_HUMAN	L	171;62;48;7	.	ENSP00000257724:W171L	W	+	2	0	MDFIC	114369656	1.000000	0.71417	0.998000	0.56505	0.433000	0.31745	3.779000	0.55379	2.814000	0.96858	0.591000	0.81541	TGG			0.338	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059968.4		NM_199072		T	114582420	G	T	114582420	3	4	118	1	0	0	0	0	1	0	0	0	9421	1357	47	3	564	3	MDFIC	7	114582420	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	14764011	114582420	44556243	31	8827											
TOP1MT	116447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	144406735	144406735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctgccagccacgtgaCggtgttatcggagcgcacct	8	7	12	14	4	0	1	0	1	0	0	1	2	0	2	4	2	4	3	4	2	2	1	rs200437445		TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr8:144406735C>T	ENST00000329245.4	-	6	770	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	TOP1MT_ENST00000523676.1_Missense_Mutation_p.V148I|TOP1MT_ENST00000521193.1_Missense_Mutation_p.V148I|TOP1MT_ENST00000519148.1_Missense_Mutation_p.V148I	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	246					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGCCACGTGACGGTGTTATCG	0.592																																					p.V246I													TOP1MT,right_lower_lobe,carcinoma,0,1	TOP1MT	0	1	0			c.G736A							C	ILE/VAL	0,4406		0,0,2203	137	119	125		736	3.4	0	8		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOP1MT	NM_052963.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	246/602	144406735	1,13005	2203	4300	6503	SO:0001583	missense	116447	exon6			ACGTGACGGTGTT	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.736G>A	8.37:g.144406735C>T	ENSP00000328835:p.Val246Ile		87	0	0		74	0.11	8	NM_052963	56	0.23	13	B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042457	0.55003	0.0	1.16E-4	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	3.44	3.44	0.39384	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.000000	0.40728	U	0.001040	T	0.68329	0.2989	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.982;0.976	T	0.79210	-0.1897	10	0.87932	D	0	.	13.8723	0.63626	0.0:1.0:0.0:0.0	.	41;246	E7ESI1;Q969P6	.;TOP1M_HUMAN	I	246;148;148;148;148;148	ENSP00000328835:V246I;ENSP00000428369:V148I;ENSP00000429169:V148I;ENSP00000429181:V148I;ENSP00000427998:V148I;ENSP00000429177:V148I	ENSP00000328835:V246I	V	-	1	0	TOP1MT	144478110	1.000000	0.71417	0.011000	0.14972	0.017000	0.09413	6.387000	0.73191	1.432000	0.47375	0.609000	0.83330	GTC	0.001		0.592	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381247.3		NM_052963		T	144406735	C	T	144406735	3	4	118	1	0	0	0	0	1	0	0	0	16388	536	19	1	1105	1	TOP1MT	8	144406735	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10		144406735	1957287	32	8828											
ZNF251	90987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145948392	145948392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtctgaattatatttgAaggttttgctgcatatatca	11	18	8	4	0	2	2	1	2	1	0	2	2	2	2	0	2	2	3	0	2	7	8			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr8:145948392A>G	ENST00000292562.7	-	5	928	c.653T>C	c.(652-654)tTc>tCc	p.F218S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	218					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)		ATTATATTTGAAGGTTTTGCT	0.413																																					p.F218S													.	.			0			c.T653C												64	67	66					8																	145948392		1953	4181	6134	SO:0001583	missense	90987	exon5			TATTTGAAGGTTT	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.653T>C	8.37:g.145948392A>G	ENSP00000292562:p.Phe218Ser		215	0	0		206	0.13	27	NM_138367	10	0.1	1	Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193192	0.58017	.	.	ENSG00000198169	ENST00000292562	T	0.74842	-0.88	2.12	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85669	0.5750	M	0.89904	3.07	0.28859	N	0.895629	D	0.89917	1.0	D	0.76575	0.988	T	0.75772	-0.3200	9	0.87932	D	0	-7.127	5.7087	0.17923	0.7592:0.0:0.0:0.2408	.	218	Q9BRH9	ZN251_HUMAN	S	218	ENSP00000292562:F218S	ENSP00000292562:F218S	F	-	2	0	ZNF251	145919201	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.958000	0.63660	1.202000	0.43218	0.460000	0.39030	TTC			0.413	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382541.1		NM_138367		G	145948392	A	G	145948392	3	3	118	1	0	0	0	0	1	0	0	0	17819	246	9	4	1366	4	ZNF251	8	145948392	Missense_Mutation	SNP	A	TCGA-XE-AAO4-01A-11D-A435-10	1541657	145948392	415630	33	8829											
HAUS6	54801	broad.mit.edu	37	chr9	19094323	19094323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaatacttacagaaatccTttttatccattcacagcaat	16	13	3	9	0	1	2	1	0	0	2	3	2	3	2	2	0	3	1	2	0	7	6			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr9:19094323T>C	ENST00000380502.3	-	3	762	c.295A>G	c.(295-297)Agg>Ggg	p.R99G	HAUS6_ENST00000380496.1_5'Flank	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	99					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						ACAGAAATCCTTTTTATCCAT	0.313																																					p.R99G													.	HAUS6	66		0			c.A295G												40	42	41					9																	19094323		2203	4298	6501	SO:0001583	missense	54801	exon3			AAATCCTTTTTAT	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.295A>G	9.37:g.19094323T>C	ENSP00000369871:p.Arg99Gly		684	0.0014619883	1		544	0.01	4	NM_017645	5	0	0	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399386	0.42512	.	.	ENSG00000147874	ENST00000380502	T	0.23950	1.88	4.93	3.79	0.43588	.	0.363197	0.32258	N	0.006358	T	0.12732	0.0309	N	0.08118	0	0.80722	D	1	B	0.15719	0.014	B	0.06405	0.002	T	0.05937	-1.0855	10	0.62326	D	0.03	-0.0377	8.08	0.30739	0.0:0.1:0.0:0.9	.	99	Q7Z4H7	HAUS6_HUMAN	G	99	ENSP00000369871:R99G	ENSP00000369871:R99G	R	-	1	2	HAUS6	19084323	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.344000	0.33941	0.755000	0.32990	0.446000	0.29264	AGG			0.313	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051825.1		NM_017645		C	19094323	T	C	19094323	3	2	118	1	0	0	0	0	1	0	0	0	6985	1608	56	4	2632	4	HAUS6	9	19094323	Missense_Mutation	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10		19094323	122119108	34	8830											
NFX1	4799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	33344183	33344183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtccatgagtgtgaccatCcaggtgagtaccaacttgtc	10	10	11	10	0	0	3	0	3	0	0	3	4	2	3	4	1	2	1	4	1	2	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr9:33344183C>T	ENST00000379540.3	+	14	2403	c.2341C>T	c.(2341-2343)Cca>Tca	p.P781S	NFX1_ENST00000379521.4_Missense_Mutation_p.P781S|NFX1_ENST00000318524.6_Missense_Mutation_p.P781S	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	781					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)		GTGTGACCATCCAGGTGAGTA	0.507																																					p.P781S													.	.			0			c.C2341T												168	125	139					9																	33344183		2203	4300	6503	SO:0001583	missense	4799	exon14			GACCATCCAGGTG	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.2341C>T	9.37:g.33344183C>T	ENSP00000368856:p.Pro781Ser		156	0	0		120	0.2	24	NM_147134	50	0.36	18	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395862	0.83011	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.52526	0.66;0.66;0.66	5.49	5.49	0.81192	Zinc finger, NF-X1-type (1);	0.052793	0.85682	D	0.000000	T	0.67420	0.2891	M	0.68728	2.09	0.80722	D	1	D;D;P;D;P	0.89917	1.0;1.0;0.952;1.0;0.911	D;D;P;D;P	0.78314	0.991;0.971;0.78;0.987;0.674	T	0.68179	-0.5477	10	0.54805	T	0.06	-3.1228	16.8552	0.86004	0.0:1.0:0.0:0.0	.	781;665;781;781;781	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	S	781	ENSP00000368856:P781S;ENSP00000368836:P781S;ENSP00000317695:P781S	ENSP00000317695:P781S	P	+	1	0	NFX1	33334183	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.920000	0.70017	2.581000	0.87130	0.561000	0.74099	CCA			0.507	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052069.1				T	33344183	C	T	33344183	3	4	118	1	0	0	0	0	1	0	0	0	10404	855	30	3	2395	3	NFX1	9	33344183	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	14249860	33344183	107869248	35	8831											
ALDH1B1	219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	38395924	38395924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcccgacggtcaaccctaCcaccggggaggtcattgggc	7	7	12	15	3	2	0	2	0	0	0	3	2	3	1	4	5	2	0	4	5	2	3			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr9:38395924C>A	ENST00000377698.3	+	2	332	c.179C>A	c.(178-180)aCc>aAc	p.T60N		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	60					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)		GTCAACCCTACCACCGGGGAG	0.597																																					p.T60N													.	.			0			c.C179A												92	86	88					9																	38395924		2203	4300	6503	SO:0001583	missense	219	exon2			ACCCTACCACCGG	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.179C>A	9.37:g.38395924C>A	ENSP00000366927:p.Thr60Asn		51	0	0		41	0.2	8	NM_000692	4	0	0	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159477	0.09236	.	.	ENSG00000137124	ENST00000377698	T	0.15952	2.38	5.81	2.85	0.33270	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.987507	0.08245	N	0.975452	T	0.20700	0.0498	L	0.36672	1.1	0.09310	N	1	B	0.15473	0.013	B	0.28784	0.094	T	0.43589	-0.9382	10	0.72032	D	0.01	.	15.6745	0.77303	0.0:0.451:0.549:0.0	.	60	P30837	AL1B1_HUMAN	N	60	ENSP00000366927:T60N	ENSP00000366927:T60N	T	+	2	0	ALDH1B1	38385924	0.030000	0.19436	0.095000	0.20976	0.029000	0.11900	2.813000	0.48002	0.327000	0.23409	-0.150000	0.13652	ACC			0.597	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052492.1				A	38395924	C	A	38395924	3	1	118	1	0	0	0	0	1	0	0	0	493	507	18	3	181	3	ALDH1B1	9	38395924	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	5051741	38395924	102817507	36	8832											
TMOD1	7111	mdanderson.org	37	chr9	100325015	100325015	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccttgtccctgcagcGatcctgggcatgcacacgct	5	10	9	17	2	0	0	0	0	0	0	3	1	3	0	4	1	3	4	4	1	0	2	rs199728770		TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr9:100325015G>T	ENST00000259365.4	+	5	612	c.399G>T	c.(397-399)gcG>gcT	p.A133A	TMOD1_ENST00000375175.1_Splice_Site_p.S6S|TMOD1_ENST00000395211.2_Splice_Site_p.A133A	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	133	Tropomyosin-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCCCTGCAGCGATCCTGGGCA	0.572																																					p.A133A													.	.			0			c.G399T												153	138	143					9																	100325015		2203	4300	6503	SO:0001630	splice_region_variant	7111	exon5			TGCAGCGATCCTG		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.398-1G>T	9.37:g.100325015G>T			70	0	0		53	0.06	3	NM_001166116	42	0	0	B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	ENST00000259365.4	37	CCDS6726.1																																																																																					0.572	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053320.2		NM_003275	Silent	T	100325015	G	T	100325015	5	4	118	1	0	0	0	0	0	0	1	0	16256	1072	37	1	413	1	TMOD1	9	100325015	Splice_Site	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	61929091	100325015	40888416	37	8833											
OR5C1	392391	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	125551981	125551981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccgtggccatgatgtacgGgacactcattttcatgtacc	9	11	10	11	2	2	1	2	1	0	0	2	2	2	2	3	2	3	2	3	2	2	4			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr9:125551981G>A	ENST00000373680.2	+	1	832	c.770G>A	c.(769-771)gGg>gAg	p.G257E		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, 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)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATGATGTACGGGACACTCATT	0.597																																					p.G257E													OR5C1,NS,carcinoma,-1,1	OR5C1	-1	1	0			c.G770A												98	81	87					9																	125551981		2203	4300	6503	SO:0001583	missense	392391	exon1			TGTACGGGACACT	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.770G>A	9.37:g.125551981G>A	ENSP00000362784:p.Gly257Glu		130	0.0076923077	1		81	0.11	9	NM_001001923	0		0	B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036443	0.54896	.	.	ENSG00000148215	ENST00000373680	T	0.39056	1.1	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37012	U	0.002300	T	0.79782	0.4505	H	0.98833	4.345	0.41448	D	0.987968	D	0.89917	1.0	D	0.81914	0.995	D	0.87852	0.2658	10	0.87932	D	0	.	18.2528	0.90009	0.0:0.0:1.0:0.0	.	257	Q8NGR4	OR5C1_HUMAN	E	257	ENSP00000362784:G257E	ENSP00000362784:G257E	G	+	2	0	OR5C1	124591802	0.481000	0.25941	0.939000	0.37840	0.330000	0.28571	1.389000	0.34453	2.840000	0.97914	0.655000	0.94253	GGG			0.597	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053953.1				A	125551981	G	A	125551981	3	1	118	1	0	0	0	0	1	0	0	0	11170	1232	43	3	772	3	OR5C1	9	125551981	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	25226966	125551981	15661450	38	8834											
DNM1	1759	mdanderson.org	37	chr9	130965794	130965794	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcatcccgctggtcaaccgGctgcaagacgccttctctgc	6	9	9	17	3	3	1	2	0	1	1	5	1	4	1	3	2	3	3	3	2	2	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr9:130965794G>T	ENST00000372923.3	+	1	137	c.45G>T	c.(43-45)cgG>cgT	p.R15R	DNM1_ENST00000475805.1_Silent_p.R15R|CIZ1_ENST00000372948.3_Intron|DNM1_ENST00000393594.3_Silent_p.R15R|DNM1_ENST00000486160.1_Silent_p.R15R|CIZ1_ENST00000393608.1_Intron|DNM1_ENST00000341179.7_Silent_p.R15R	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	15					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						TGGTCAACCGGCTGCAAGACG	0.711																																					.	GBM(113;146 1575 2722 28670 29921)												.	.			0			.												17	14	15					9																	130965794		2189	4274	6463	SO:0001819	synonymous_variant	1759	.			CAACCGGCTGCAA	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.45G>T	9.37:g.130965794G>T			28	0	0		33	0.09	3	.	0		0	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	CCDS6895.1																																																																																					0.711	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054367.1		NM_004408		T	130965794	G	T	130965794	2	4	118	1	0	0	0	0	0	0	0	1	4675	1190	42	2		2	DNM1	9	130965794	Silent	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	5413813	130965794	10247637	39	8835											
PRKCDBP	112464	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	6340567	6340567	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcggcttgaccggggtGggcggtggcgctgcagggcc	3	5	22	11	5	0	1	0	1	0	0	0	2	0	1	2	8	1	3	2	8	0	1	rs144522181		TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr11:6340567G>T	ENST00000303927.3	-	2	782	c.612C>A	c.(610-612)ccC>ccA	p.P204P	PRKCDBP_ENST00000530979.1_Silent_p.P236P	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	204					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGACCGGGGTGGGCGGTGGCG	0.731																																					p.P204P													.	PRKCDBP	19		0			c.C612A												23	31	28					11																	6340567		2188	4288	6476	SO:0001819	synonymous_variant	112464	exon2			CGGGGTGGGCGGT	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.612C>A	11.37:g.6340567G>T			59	0	0		46	0.11	5	NM_145040	38	0	0		Silent	SNP	ENST00000303927.3	37	CCDS7762.1																																																																																					0.731	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257228.2		NM_145040		T	6340567	G	T	6340567	2	4	118	1	0	0	0	0	0	0	0	1	12530	1335	47	3		3	PRKCDBP	11	6340567	Silent	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		6340567	128665949	40	8836											
MRPL17	63875	mdanderson.org	37	chr11	6703420	6703420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgcctgaggtcctgccGcaaaccctgcagcagctggt	6	9	12	14	1	0	1	0	1	0	0	1	1	1	1	4	2	6	5	4	2	1	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr11:6703420G>A	ENST00000288937.6	-	3	561	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	MRPL17_ENST00000532676.1_5'UTR	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	153					translation (GO:0006412)	mitochondrial inner membrane (GO:0005743)|ribosome (GO:0005840)	protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTCCTGCCGCAAACCCTGC	0.547																																					p.R153W													.	.			0			c.C457T												101	90	94					11																	6703420		2201	4296	6497	SO:0001583	missense	63875	exon3			CCTGCCGCAAACC	AB051620	CCDS31412.1	11p15.5-p15.4	2012-09-13				ENSG00000158042		"Mitochondrial ribosomal proteins / large subunits"	14053	protein-coding gene	gene with protein product		611830					Standard	NM_022061		Approved	RPML26, MRP-L26	uc001men.2	Q9NRX2		ENST00000288937.6:c.457C>T	11.37:g.6703420G>A	ENSP00000288937:p.Arg153Trp		172	0	0		132	0.04	5	NM_022061	855	0	2	D3DQU3|Q6IAH8|Q96Q53|Q9C066	Missense_Mutation	SNP	ENST00000288937.6	37	CCDS31412.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787446	0.49997	.	.	ENSG00000158042	ENST00000288937;ENST00000532203	.	.	.	5.87	3.04	0.35103	.	0.470066	0.23461	N	0.047936	T	0.39517	0.1081	L	0.34521	1.04	0.33384	D	0.575208	B	0.14012	0.009	B	0.06405	0.002	T	0.44205	-0.9343	9	0.56958	D	0.05	-1.291	9.3253	0.37988	0.2309:0.0:0.7691:0.0	.	153	Q9NRX2	RM17_HUMAN	W	153;130	.	ENSP00000288937:R153W	R	-	1	2	MRPL17	6659996	0.974000	0.33945	0.022000	0.16811	0.161000	0.22273	1.584000	0.36589	0.415000	0.25817	-0.142000	0.14014	CGG			0.547	MRPL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384544.1		NM_022061		A	6703420	G	A	6703420	3	1	118	1	0	0	0	0	1	0	0	0	9798	1086	38	1	74	1	MRPL17	11	6703420	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	362853	6703420	128303096	41	8837											
KDM2A	22992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	66948811	66948811	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttaatgtagagtatattCagcggggtggcttgagagat	11	14	13	3	1	1	3	1	1	0	2	1	4	1	3	0	3	1	3	0	3	4	7			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr11:66948811C>T	ENST00000529006.2	+	4	648	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	KDM2A_ENST00000398645.2_Nonsense_Mutation_p.Q68*	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	68					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						AGAGTATATTCAGCGGGGTGG	0.363																																					p.Q68X													.	.			0			c.C202T												67	61	63					11																	66948811		1820	4075	5895	SO:0001587	stop_gained	22992	exon4			TATATTCAGCGGG	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.202C>T	11.37:g.66948811C>T	ENSP00000432786:p.Gln68*		143	0	0		99	0.19	19	NM_012308	5	0.2	1	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Nonsense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	42	9.750315	0.99255	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.8704	16.3189	0.82938	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000381640:Q68X	Q	+	1	0	KDM2A	66705387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.644000	0.61397	2.715000	0.92844	0.655000	0.94253	CAG			0.363	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393140.2		NM_012308		T	66948811	C	T	66948811	4	4	118	1	0	0	0	0	0	1	0	0	8139	827	29	3	212	3	KDM2A	11	66948811	Nonsense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	60245391	66948811	68057705	42	8838											
MRGPRF	116535	mdanderson.org	37	chr11	68772840	68772840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcagcgccgtcccgcaggGcccgctggaagaccaccctg	6	4	13	18	4	1	1	1	0	0	1	2	2	2	2	5	2	1	3	5	2	1	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr11:68772840G>T	ENST00000309099.6	-	3	1320	c.938C>A	c.(937-939)gCc>gAc	p.A313D	MRGPRF_ENST00000441623.1_Missense_Mutation_p.A313D|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	313						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTCCCGCAGGGCCCGCTGGAA	0.682																																					p.A313D													.	.			0			c.C938A												13	11	12					11																	68772840		2175	4264	6439	SO:0001583	missense	116535	exon3			CGCAGGGCCCGCT	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.938C>A	11.37:g.68772840G>T	ENSP00000309782:p.Ala313Asp		28	0	0		18	0.17	3	NM_001098515	2	0	0	B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991230	0.74703	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.37584	1.19;1.19	5.07	4.15	0.48705	.	0.000000	0.41097	D	0.000957	T	0.56247	0.1972	M	0.81112	2.525	0.36911	D	0.890893	D	0.76494	0.999	D	0.66716	0.946	T	0.66139	-0.5998	10	0.87932	D	0	-31.1167	8.4713	0.32986	0.1037:0.0:0.8963:0.0	.	313	Q96AM1	MRGRF_HUMAN	D	313;313;285	ENSP00000403660:A313D;ENSP00000309782:A313D	ENSP00000309782:A313D	A	-	2	0	MRGPRF	68529416	0.216000	0.23585	1.000000	0.80357	0.990000	0.78478	1.107000	0.31110	2.339000	0.79563	0.561000	0.74099	GCC			0.682	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396875.1		NM_145015		T	68772840	G	T	68772840	3	4	118	1	0	0	0	0	1	0	0	0	9781	1203	42	2	97	2	MRGPRF	11	68772840	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	1824029	68772840	66233676	43	8839											
GPR19	2842	broad.mit.edu	37	chr12	12815307	12815307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtttcagtgcagctgcGgttttggaggggcaccagaa	7	10	16	8	1	1	1	1	0	0	1	1	2	1	2	1	5	3	6	1	5	1	3			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr12:12815307G>T	ENST00000540510.1	-	2	268	c.76C>A	c.(76-78)Cgc>Agc	p.R26S	GPR19_ENST00000332427.2_Missense_Mutation_p.R26S			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					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(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTGCAGCTGCGGTTTTGGAGG	0.438																																					p.R26S													GPR19,NS,carcinoma,+1,1	GPR19	47	1	0			c.C76A												121	112	115					12																	12815307		2203	4300	6503	SO:0001583	missense	2842	exon4			AGCTGCGGTTTTG		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.76C>A	12.37:g.12815307G>T	ENSP00000441832:p.Arg26Ser		147	0	0		201	0.02	4	NM_006143	6	0	0	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	G	1.679	-0.506920	0.04231	.	.	ENSG00000183150	ENST00000540510;ENST00000332427;ENST00000540796	T;T	0.67171	-0.25;-0.25	5.43	1.2	0.21068	.	1.034790	0.07641	N	0.930305	T	0.39733	0.1089	N	0.08118	0	0.22435	N	0.999106	B	0.02656	0.0	B	0.01281	0.0	T	0.25293	-1.0136	10	0.09338	T	0.73	-4.7099	5.0312	0.14411	0.0761:0.1009:0.4713:0.3517	.	26	Q15760	GPR19_HUMAN	S	26	ENSP00000441832:R26S;ENSP00000333744:R26S	ENSP00000333744:R26S	R	-	1	0	GPR19	12706574	0.987000	0.35691	0.993000	0.49108	0.249000	0.25844	0.228000	0.17814	0.403000	0.25479	0.655000	0.94253	CGC			0.438	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400662.1		NM_006143		T	12815307	G	T	12815307	3	4	118	1	0	0	0	0	1	0	0	0	6693	1116	39	1	1175	1	GPR19	12	12815307	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		12815307	121036588	44	8840											
PTPRO	5800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	15722430	15722430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaattttctcttcagtttGaggtgagttggttaaggcat	10	17	10	4	0	2	2	1	2	1	0	3	2	2	2	0	3	0	4	0	3	3	7			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr12:15722430G>C	ENST00000281171.4	+	19	3157	c.2827G>C	c.(2827-2829)Gag>Cag	p.E943Q	PTPRO_ENST00000544244.1_Missense_Mutation_p.E104Q|PTPRO_ENST00000542557.1_Missense_Mutation_p.E104Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E915Q|PTPRO_ENST00000445537.2_Missense_Mutation_p.E132Q|PTPRO_ENST00000442921.2_Missense_Mutation_p.E132Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	943	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)				TCTTCAGTTTGAGGTGAGTTG	0.448																																					p.E943Q													.	.			0			c.G2827C												185	185	185					12																	15722430		2203	4300	6503	SO:0001583	missense	5800	exon19			CAGTTTGAGGTGA	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.2827G>C	12.37:g.15722430G>C	ENSP00000281171:p.Glu943Gln		1236	0.0008090615	1		1415	0.1	137	NM_030667	0		0	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207877	0.79240	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	4.75	4.75	0.60458	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.46758	D	0.000268	T	0.29288	0.0729	L	0.37630	1.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.915;0.993;0.988	T	0.02202	-1.1196	10	0.59425	D	0.04	.	17.9475	0.89043	0.0:0.0:1.0:0.0	.	104;915;943	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	Q	943;915;132;104;132;104	ENSP00000281171:E943Q;ENSP00000343434:E915Q;ENSP00000404188:E132Q;ENSP00000437571:E104Q;ENSP00000393449:E132Q;ENSP00000439234:E104Q	ENSP00000281171:E943Q	E	+	1	0	PTPRO	15613697	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.613000	0.90913	2.482000	0.83794	0.563000	0.77884	GAG			0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401079.1				C	15722430	G	C	15722430	3	2	118	1	0	0	0	0	1	0	0	0	12832	1291	45	5	2901	5	PTPRO	12	15722430	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	2907123	15722430	118129465	45	8841											
SOCS2	8835	mdanderson.org	37	chr12	93966744	93966744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagccagtgggggaccgcggGgtcggcggaggagccatccc	6	3	20	12	4	0	0	0	0	0	0	2	4	1	3	4	7	2	0	4	7	0	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr12:93966744G>T	ENST00000340600.2	+	2	669	c.71G>T	c.(70-72)gGg>gTg	p.G24V	SOCS2-AS1_ENST00000551626.1_RNA|SOCS2_ENST00000551556.1_Missense_Mutation_p.G24V|SOCS2_ENST00000536696.2_Missense_Mutation_p.G24V|SOCS2_ENST00000549206.1_Missense_Mutation_p.G24V|SOCS2-AS1_ENST00000500986.1_RNA|SOCS2_ENST00000549122.1_Missense_Mutation_p.G24V|SOCS2-AS1_ENST00000499137.2_RNA|SOCS2_ENST00000548537.1_Missense_Mutation_p.G24V	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	24					cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						GGGACCGCGGGGTCGGCGGAG	0.726																																					p.G24V													.	.			0			c.G71T												7	7	7					12																	93966744		2150	4214	6364	SO:0001583	missense	8835	exon2			CCGCGGGGTCGGC	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"Suppressors of cytokine signaling", "SH2 domain containing"	19382	protein-coding gene	gene with protein product	"STAT-induced STAT inhibitor-2"	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.71G>T	12.37:g.93966744G>T	ENSP00000339428:p.Gly24Val		37	0	0		51	0.06	3	NM_001270469	19	0	0	A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745257	0.69418	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000548091;ENST00000549122;ENST00000548537;ENST00000549887;ENST00000551556	T;T;T;T;T;T;T	0.31510	1.94;1.94;1.94;1.49;1.94;1.5;1.94	4.97	3.04	0.35103	.	0.439504	0.21435	N	0.074582	T	0.16385	0.0394	L	0.27053	0.805	0.31325	N	0.685534	B	0.33494	0.414	B	0.28553	0.091	T	0.20042	-1.0287	10	0.15066	T	0.55	-2.6071	7.5696	0.27900	0.0902:0.3523:0.5575:0.0	.	24	O14508	SOCS2_HUMAN	V	24	ENSP00000339428:G24V;ENSP00000448815:G24V;ENSP00000442898:G24V;ENSP00000447902:G24V;ENSP00000447161:G24V;ENSP00000448611:G24V;ENSP00000449227:G24V	ENSP00000339428:G24V	G	+	2	0	SOCS2	92490875	0.722000	0.28017	0.177000	0.23020	0.908000	0.53690	0.912000	0.28597	0.435000	0.26365	0.555000	0.69702	GGG			0.726	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407731.2				T	93966744	G	T	93966744	3	4	118	1	0	0	0	0	1	0	0	0	14937	1232	43	3	73	3	SOCS2	12	93966744	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	78244314	93966744	39885151	46	8842											
FAM48A	55578	broad.mit.edu	37	chr13	37614740	37614740	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttggacgtaagagaatgtgCcgactttggtaaccaggaga	12	9	14	6	2	0	2	0	0	0	2	0	6	0	3	2	3	2	3	2	3	3	4			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr13:37614740C>T	ENST00000350612.6	-	8	706	c.486G>A	c.(484-486)cgG>cgA	p.R162R	SUPT20H_ENST00000360252.4_Silent_p.R163R|SUPT20H_ENST00000475892.1_Silent_p.R162R|SUPT20H_ENST00000542180.1_Silent_p.R150R|SUPT20H_ENST00000356185.3_Silent_p.R163R|SUPT20H_ENST00000464744.1_Silent_p.R163R|SUPT20H_ENST00000470359.2_5'UTR	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	162					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										AGAGAATGTGCCGACTTTGGT	0.358																																					p.R163R													.	.			0			c.G489A												131	120	124					13																	37614740		2203	4300	6503	SO:0001819	synonymous_variant	55578	exon8			AATGTGCCGACTT	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.486G>A	13.37:g.37614740C>T			536	0.0018656716	1		404	0.01	6	NM_017569	40	0	0	E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	CCDS31959.1																																																																																					0.358	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000354766.1		NM_017569		T	37614740	C	T	37614740	2	4	118	1	0	0	0	0	0	0	0	1	5585	726	26	2		2	FAM48A	13	37614740	Silent	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10		37614740	77555138	47	8843											
ADAM21	8747	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr14	70925910	70925910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtgggagagttcaatGtgagaatgtgagagacattc	11	13	13	4	0	1	4	1	2	0	3	2	7	1	4	0	1	0	1	0	1	2	4			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr14:70925910G>A	ENST00000603540.1	+	2	1952	c.1694G>A	c.(1693-1695)tGt>tAt	p.C565Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.C565Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	565	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGAGTTCAATGTGAGAATGTG	0.398																																					p.C565Y													.	.			0			c.G1694A												46	55	52					14																	70925910		2202	4280	6482	SO:0001583	missense	8747	exon2			TTCAATGTGAGAA	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.1694G>A	14.37:g.70925910G>A	ENSP00000474385:p.Cys565Tyr		268	0	0		193	0.18	35	NM_003813	0		0	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584030	0.46110	.	.	ENSG00000139985	ENST00000267499	T	0.63580	-0.05	4.49	4.49	0.54785	ADAM, cysteine-rich (2);	0.000000	0.44688	U	0.000429	D	0.88254	0.6387	H	0.99325	4.515	0.41567	D	0.988665	D	0.89917	1.0	D	0.97110	1.0	D	0.93612	0.6940	10	0.87932	D	0	.	17.7263	0.88366	0.0:0.0:1.0:0.0	.	565	Q9UKJ8	ADA21_HUMAN	Y	565	ENSP00000267499:C565Y	ENSP00000267499:C565Y	C	+	2	0	ADAM21	69995663	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	6.830000	0.75319	2.485000	0.83878	0.563000	0.77884	TGT			0.398	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413008.3				A	70925910	G	A	70925910	3	1	118	1	0	0	0	0	1	0	0	0	243	1377	48	3	1696	3	ADAM21	14	70925910	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		70925910	36423630	48	8844											
ACOT4	122970	broad.mit.edu	37	chr14	74059005	74059005	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggacggccacgacccCgagcctggacggctgctgtg	5	6	16	14	4	0	0	0	0	0	0	0	4	0	2	4	4	3	3	4	4	0	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr14:74059005C>G	ENST00000326303.4	+	1	596	c.342C>G	c.(340-342)ccC>ccG	p.P114P		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	114					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCCACGACCCCGAGCCTGGAC	0.692																																					p.P114P													.	ACOT4	25		0			c.C342G												15	17	16					14																	74059005		2122	4101	6223	SO:0001819	synonymous_variant	122970	exon1			CGACCCCGAGCCT	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.342C>G	14.37:g.74059005C>G			41	0.0243902439	1		37	0.11	4	NM_152331	0		0	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Silent	SNP	ENST00000326303.4	37	CCDS9817.1																																																																																					0.692	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404298.2		NM_152331		G	74059005	C	G	74059005	2	3	118	1	0	0	0	0	0	0	0	1	153	639	23	5		5	ACOT4	14	74059005	Silent	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	3133095	74059005	33290535	49	8845											
SNW1	22938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	78197400	78197400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccatttctctaagtttctCttcatgtttttccttttctt	4	23	4	10	0	4	0	1	0	3	0	7	0	5	0	2	1	0	2	2	1	1	9			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr14:78197400C>G	ENST00000261531.7	-	10	1026	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.E322Q|SNW1_ENST00000554775.1_Missense_Mutation_p.E160Q	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	322	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTAAGTTTCTCTTCATGTTTT	0.408																																					p.E322Q													.	.			0			c.G964C												133	131	131					14																	78197400		2203	4300	6503	SO:0001583	missense	22938	exon10			GTTTCTCTTCATG	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.964G>C	14.37:g.78197400C>G	ENSP00000261531:p.Glu322Gln		127	0	0		85	0.19	16	NM_012245	303	0.34	103	A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324597	0.81580	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.36	5.36	0.76844	SKI-interacting protein SKIP, SNW domain (1);	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	L	0.60845	1.875	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.79108	0.925;0.992	T	0.72740	-0.4202	9	0.30854	T	0.27	.	19.1193	0.93355	0.0:1.0:0.0:0.0	.	322;322	G3V3A4;Q13573	.;SNW1_HUMAN	Q	322;160;322	.	ENSP00000261531:E322Q	E	-	1	0	SNW1	77267153	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.438000	0.80431	2.511000	0.84671	0.573000	0.79308	GAG			0.408	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413912.1		NM_012245		G	78197400	C	G	78197400	3	3	118	1	0	0	0	0	1	0	0	0	14902	922	32	5	666	5	SNW1	14	78197400	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	4138395	78197400	29152140	50	8846											
RPS6KA5	9252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	91366534	91366534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattgaaaaactaccttctcCcaggggtttgtccttcaaat	12	13	6	10	0	2	1	1	1	1	0	4	1	3	1	3	2	2	1	3	2	5	5			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr14:91366534C>G	ENST00000261991.3	-	11	1470	c.1297G>C	c.(1297-1299)Gga>Cga	p.G433R	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.G354R|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.G433R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	433	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTACCTTCTCCCAGGGGTTTG	0.343																																					p.G433R													.	.			0			c.G1297C												81	86	84					14																	91366534		2203	4300	6503	SO:0001583	missense	9252	exon11			CTTCTCCCAGGGG	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1297G>C	14.37:g.91366534C>G	ENSP00000261991:p.Gly433Arg		169	0	0		134	0.16	21	NM_182398	11	0.27	3	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002990	0.74932	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	D;D;D	0.82984	-1.67;-1.67;-1.67	5.81	5.81	0.92471	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	0.95121	0.8419	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.96381	0.9281	10	0.87932	D	0	.	20.0736	0.97735	0.0:1.0:0.0:0.0	.	433;433	O75582-2;O75582	.;KS6A5_HUMAN	R	433;354;433	ENSP00000261991:G433R;ENSP00000442803:G354R;ENSP00000402787:G433R	ENSP00000261991:G433R	G	-	1	0	RPS6KA5	90436287	1.000000	0.71417	0.978000	0.43139	0.279000	0.26890	7.748000	0.85085	2.748000	0.94277	0.655000	0.94253	GGA			0.343	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411442.2		NM_004755		G	91366534	C	G	91366534	3	3	118	1	0	0	0	0	1	0	0	0	13677	632	22	5	1145	5	RPS6KA5	14	91366534	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	13169134	91366534	15983006	51	8847											
FAM173A	65990	mdanderson.org	37	chr16	771876	771876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctggtggcgctggcgCggctgcacgcctggagggcc	2	6	19	14	4	0	0	0	0	0	0	0	1	0	1	3	7	1	4	3	7	0	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr16:771876C>T	ENST00000569529.1	+	3	643	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	FAM173A_ENST00000564000.1_Missense_Mutation_p.R115W|FAM173A_ENST00000219535.3_Missense_Mutation_p.R115W	NM_023933.2	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	115						integral component of membrane (GO:0016021)				pancreas(1)	1						GGCGCTGGCGCGGCTGCACGC	0.716																																					p.R115W													.	.			0			c.C343T												4	6	5					16																	771876		1879	3923	5802	SO:0001583	missense	65990	exon3			CTGGCGCGGCTGC	BC002624	CCDS10423.1, CCDS59254.1	16p13.3	2008-06-19	2008-06-19	2008-06-19	ENSG00000103254	ENSG00000103254			14152	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 24"	C16orf24			Standard	NM_023933		Approved	MGC2494	uc002cje.4	Q9BQD7	OTTHUMG00000121177	ENST00000569529.1:c.343C>T	16.37:g.771876C>T	ENSP00000454380:p.Arg115Trp		21	0	0		12	0.17	2	NM_023933	61	0.02	1	A2IDD4	Missense_Mutation	SNP	ENST00000569529.1	37	CCDS10423.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590459	0.46214	.	.	ENSG00000103254	ENST00000219535	T	0.38722	1.12	5.1	-0.779	0.10973	.	0.442568	0.25514	N	0.030145	T	0.33147	0.0853	M	0.67625	2.065	0.09310	N	1	B	0.21381	0.055	B	0.14578	0.011	T	0.21143	-1.0254	10	0.45353	T	0.12	-11.9288	4.8805	0.13677	0.4741:0.313:0.0:0.213	.	115	Q9BQD7	F173A_HUMAN	W	115	ENSP00000219535:R115W	ENSP00000219535:R115W	R	+	1	2	FAM173A	711877	0.000000	0.05858	0.012000	0.15200	0.858000	0.48976	-0.602000	0.05680	-0.092000	0.12417	-0.314000	0.08810	CGG			0.716	FAM173A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000241667.2		NM_023933		T	771876	C	T	771876	3	4	118	1	0	0	0	0	1	0	0	0	5503	759	27	1	353	1	FAM173A	16	771876	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10		771876	89582877	52	8848											
CD2BP2	10421	ucsc.edu	37	chr16	30365078	30365078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcctcctcctccgagTctgaggcctggcgctggcca	4	9	12	16	2	1	1	0	1	1	0	5	2	5	1	6	3	1	2	6	3	0	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr16:30365078T>C	ENST00000305596.3	-	5	594	c.419A>G	c.(418-420)gAc>gGc	p.D140G	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Missense_Mutation_p.D140G	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	140					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTCCTCCGAGTCTGAGGCCTG	0.607																																					p.D140G													.	CD2BP2	30		0			c.A419G												20	21	21					16																	30365078		2188	4290	6478	SO:0001583	missense	10421	exon5			TCCGAGTCTGAGG	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 59"	604470	"CD2 antigen (cytoplasmic tail)-binding protein 2"			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.419A>G	16.37:g.30365078T>C	ENSP00000304903:p.Asp140Gly		39	0	0		24	0.13	3	NM_006110	137	0.26	35	B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	t	8.824	0.938189	0.18206	.	.	ENSG00000169217	ENST00000305596	T	0.35048	1.33	5.06	3.96	0.45880	.	0.247919	0.46145	N	0.000313	T	0.34483	0.0899	M	0.68317	2.08	0.58432	D	0.999995	B	0.06786	0.001	B	0.09377	0.004	T	0.10064	-1.0646	10	0.30078	T	0.28	-18.7456	9.9161	0.41434	0.0:0.0823:0.0:0.9177	.	140	O95400	CD2B2_HUMAN	G	140	ENSP00000304903:D140G	ENSP00000304903:D140G	D	-	2	0	CD2BP2	30272579	1.000000	0.71417	0.998000	0.56505	0.387000	0.30353	5.523000	0.67099	0.759000	0.33084	-0.290000	0.09829	GAC			0.607	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255528.1		NM_006110		C	30365078	T	C	30365078	3	2	118	1	0	0	0	0	1	0	0	0	2997	1667	58	4	618	4	CD2BP2	16	30365078	Missense_Mutation	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10	29593202	30365078	59989675	53	8849											
COX4NB	10328	ucsc.edu;bcgsc.ca	37	chr16	85814060	85814060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcgctacgcagtccatcGtaaacttggtgttgtctacc	8	12	10	11	3	1	0	0	0	1	0	3	0	2	0	2	2	3	4	2	2	5	6			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr16:85814060G>T	ENST00000253457.3	-	4	642	c.398C>A	c.(397-399)aCg>aAg	p.T133K	RNU1-103P_ENST00000516502.1_RNA|EMC8_ENST00000435200.2_Intron	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	133						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GCAGTCCATCGTAAACTTGGT	0.602																																					p.T133K													.	.			0			c.C398A												127	87	100					16																	85814060		2198	4300	6498	SO:0001583	missense	10328	exon4			TCCATCGTAAACT	AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"family with sequence similarity 158, member B"	604886	"chromosome 16 open reading frame 4", "neighbor of COX4", "chromosome 16 open reading frame 2", "COX4 neighbor"	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.398C>A	16.37:g.85814060G>T	ENSP00000253457:p.Thr133Lys		63	0	0		39	0.1	4	NM_006067	94	0	0	C9JB21	Missense_Mutation	SNP	ENST00000253457.3	37	CCDS10954.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974374	0.92919	.	.	ENSG00000131148	ENST00000253457	T	0.45276	0.9	5.12	5.12	0.69794	.	0.098801	0.64402	D	0.000002	T	0.59998	0.2235	M	0.68593	2.085	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.55121	-0.8190	10	0.21014	T	0.42	-22.9663	18.5651	0.91114	0.0:0.0:1.0:0.0	.	133	O43402	CX4NB_HUMAN	K	133	ENSP00000253457:T133K	ENSP00000253457:T133K	T	-	2	0	COX4NB	84371561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.328000	0.79160	2.377000	0.81083	0.561000	0.74099	ACG			0.602	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269099.1		NM_006067		T	85814060	G	T	85814060	3	4	118	1	0	0	0	0	1	0	0	0	3773	1145	40	1	242	1	COX4NB	16	85814060	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	55448982	85814060	4540693	54	8850											
SPAG7	9552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	4863123	4863123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccttgccgatgaggTggctgtacttgtccttgtag	4	14	12	11	1	0	1	0	1	0	0	2	2	2	1	3	2	3	4	3	2	2	5	rs574343509		TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr17:4863123T>C	ENST00000206020.3	-	6	573	c.506A>G	c.(505-507)cAc>cGc	p.H169R	SPAG7_ENST00000573366.1_Missense_Mutation_p.H118R|SPAG7_ENST00000575142.1_Missense_Mutation_p.H158R	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	169						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GCCGATGAGGTGGCTGTACTT	0.637													t|||	1	0.000199681	0	0	5008	,	,		17991	0.001		0	False		,,,				2504	0				p.H169R													.	.			0			c.A506G												98	104	102					17																	4863123		2167	4259	6426	SO:0001583	missense	9552	exon6			ATGAGGTGGCTGT	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.506A>G	17.37:g.4863123T>C	ENSP00000206020:p.His169Arg		82	0	0		56	0.23	13	NM_004890	413	0.3	125	Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	t	16.17	3.048229	0.55110	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.1	2.89	0.33648	.	0.045848	0.85682	N	0.000000	T	0.50956	0.1646	M	0.69463	2.115	0.51767	D	0.999935	P	0.49185	0.92	P	0.45071	0.468	T	0.48246	-0.9052	9	0.49607	T	0.09	-3.731	8.1176	0.30953	0.0:0.168:0.0:0.832	.	169	O75391	SPAG7_HUMAN	R	169	.	ENSP00000206020:H169R	H	-	2	0	SPAG7	4803846	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	5.054000	0.64275	0.414000	0.25790	-0.360000	0.07572	CAC			0.637	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438747.1		NM_004890		C	4863123	T	C	4863123	3	2	118	1	0	0	0	0	1	0	0	0	15006	1696	59	4	185	4	SPAG7	17	4863123	Missense_Mutation	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10		4863123	76332087	55	8851											
EFCAB5	374786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	28382962	28382962	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaacccaagtcccaaaaaAtagaaggaaagtcatggtca	18	6	9	8	0	2	2	2	1	0	1	3	3	3	3	2	2	1	0	2	2	8	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr17:28382962A>C	ENST00000394835.3	+	11	2443	c.2251A>C	c.(2251-2253)Ata>Cta	p.I751L	EFCAB5_ENST00000541045.1_Missense_Mutation_p.I408L|EFCAB5_ENST00000536908.2_Missense_Mutation_p.I695L|EFCAB5_ENST00000394832.2_Missense_Mutation_p.I751L|EFCAB5_ENST00000378738.3_Missense_Mutation_p.I751L|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I751L	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	751							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						GTCCCAAAAAATAGAAGGAAA	0.343																																					p.I751L													.	.			0			c.A2251C												145	133	137					17																	28382962		1831	4080	5911	SO:0001583	missense	374786	exon11			CAAAAAATAGAAG	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.2251A>C	17.37:g.28382962A>C	ENSP00000378312:p.Ile751Leu		187	0	0		116	0.18	21	NM_198529	0		0	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	A	9.911	1.209575	0.22289	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.61040	1.23;0.14;2.42;2.41;1.58;1.22;2.42	5.29	2.99	0.34606	.	0.221074	0.31323	N	0.007847	T	0.53126	0.1777	M	0.66939	2.045	0.22066	N	0.999381	B;B;B;B;P;B	0.40909	0.115;0.183;0.347;0.347;0.732;0.012	B;B;B;B;B;B	0.41988	0.039;0.085;0.069;0.085;0.372;0.011	T	0.42155	-0.9468	10	0.31617	T	0.26	-19.2359	7.4053	0.26987	0.8208:0.0:0.1792:0.0	.	695;695;751;751;751;751	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	L	695;494;408;751;751;751;751;695;557	ENSP00000440619:I695L;ENSP00000445575:I408L;ENSP00000378312:I751L;ENSP00000322003:I751L;ENSP00000378309:I751L;ENSP00000368012:I751L;ENSP00000417009:I557L	ENSP00000322003:I751L	I	+	1	0	EFCAB5	25407088	0.846000	0.29590	0.434000	0.26772	0.341000	0.28922	1.438000	0.35002	0.287000	0.22375	0.528000	0.53228	ATA			0.343	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256120.4		NM_198529		C	28382962	A	C	28382962	3	2	118	1	0	0	0	0	1	0	0	0	4943	101	4	4	2293	4	EFCAB5	17	28382962	Missense_Mutation	SNP	A	TCGA-XE-AAO4-01A-11D-A435-10	23519839	28382962	52812248	56	8852											
LIG3	3980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	33310332	33310332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatgccaagcgtggcacagCtggctgcaaaaaatgcaagg	13	6	12	10	1	0	0	0	0	0	0	0	0	0	0	1	3	5	5	1	3	6	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr17:33310332C>T	ENST00000378526.4	+	2	441	c.308C>T	c.(307-309)gCt>gTt	p.A103V	LIG3_ENST00000262327.5_Missense_Mutation_p.A103V|LIG3_ENST00000586407.1_Intron	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	103					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CGTGGCACAGCTGGCTGCAAA	0.522								Other BER factors																													p.A103V													.	.			0			c.C308T												91	86	88					17																	33310332		2203	4300	6503	SO:0001583	missense	3980	exon2			GCACAGCTGGCTG		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.308C>T	17.37:g.33310332C>T	ENSP00000367787:p.Ala103Val		189	0	0		136	0.15	20	NM_013975	6	0	0	Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	35	5.477596	0.96291	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.46819	0.86;0.86	5.51	5.51	0.81932	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.80764	0.99;0.99;0.983;0.994	T	0.78740	-0.2086	10	0.87932	D	0	-9.8612	18.4019	0.90519	0.0:1.0:0.0:0.0	.	103;103;103;103	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	V	103	ENSP00000367787:A103V;ENSP00000262327:A103V	ENSP00000262327:A103V	A	+	2	0	LIG3	30334445	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	7.552000	0.82192	2.597000	0.87782	0.655000	0.94253	GCT			0.522	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250330.3		NM_013975		T	33310332	C	T	33310332	3	4	118	1	0	0	0	0	1	0	0	0	8797	797	28	2	310	2	LIG3	17	33310332	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	4927370	33310332	47884878	57	8853											
ARSG	22901	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	66339899	66339899	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccaccttggcagaggtgCtgcagcaggcgggttacgtc	8	7	15	11	2	0	2	0	0	0	2	1	2	0	2	2	4	4	5	2	4	1	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr17:66339899C>G	ENST00000448504.2	+	3	1169	c.373C>G	c.(373-375)Ctg>Gtg	p.L125V	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	125					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)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCAGAGGTGCTGCAGCAGGC	0.582																																					p.L125V													.	ARSG	55		0			c.C373G												69	51	57					17																	66339899		2203	4300	6503	SO:0001583	missense	22901	exon3			GAGGTGCTGCAGC	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.373C>G	17.37:g.66339899C>G	ENSP00000407193:p.Leu125Val		93	0.0107526882	1		68	0.16	11	NM_001267727	3	0	0	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437290	0.83885	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.56	4.56	0.56223	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000007	D	0.84442	0.5473	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87724	0.2575	9	0.72032	D	0.01	.	17.4747	0.87656	0.0:1.0:0.0:0.0	.	125	Q96EG1	ARSG_HUMAN	V	125	.	ENSP00000413953:L125V	L	+	1	2	ARSG	63851494	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.810000	0.62598	2.514000	0.84764	0.650000	0.86243	CTG			0.582	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448369.1		NM_014960		G	66339899	C	G	66339899	3	3	118	1	0	0	0	0	1	0	0	0	992	796	28	5	379	5	ARSG	17	66339899	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	33029567	66339899	14855311	58	8854											
REXO1	57455	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	1826917	1826917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctccgtcttgacgctgGtggactcgttgaagatccgc	5	12	12	12	4	1	3	0	2	1	1	5	4	4	4	3	2	0	2	3	2	1	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:1826917G>C	ENST00000170168.4	-	2	1965	c.1871C>G	c.(1870-1872)aCc>aGc	p.T624S	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA|REXO1_ENST00000587524.1_5'Flank	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	624						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)		CTTGACGCTGGTGGACTCGTT	0.692																																					p.T624S													.	.			0			c.C1871G												16	12	14					19																	1826917		2194	4292	6486	SO:0001583	missense	57455	exon2			ACGCTGGTGGACT	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.1871C>G	19.37:g.1826917G>C	ENSP00000170168:p.Thr624Ser		278	0	0		176	0.15	27	NM_020695	30	0.17	5	Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668590	0.67814	.	.	ENSG00000079313	ENST00000170168	T	0.20598	2.06	4.55	4.55	0.56014	.	0.219434	0.37136	N	0.002232	T	0.30293	0.0760	M	0.68317	2.08	0.09310	N	1	D	0.57257	0.979	P	0.49799	0.622	T	0.15464	-1.0436	10	0.42905	T	0.14	-42.274	11.2662	0.49112	0.0:0.0:0.6886:0.3113	.	624	Q8N1G1	REXO1_HUMAN	S	624	ENSP00000170168:T624S	ENSP00000170168:T624S	T	-	2	0	REXO1	1777917	0.988000	0.35896	0.992000	0.48379	0.955000	0.61496	1.750000	0.38329	2.081000	0.62600	0.455000	0.32223	ACC			0.692	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449200.1		NM_020695		C	1826917	G	C	1826917	3	2	118	1	0	0	0	0	1	0	0	0	13264	1261	44	5	1854	5	REXO1	19	1826917	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		1826917	57302066	59	8855											
ATCAY	85300	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	3905468	3905468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatttcaacggagcgcatcGtaagaggaagacgctggtgg	13	7	14	7	4	1	2	1	0	0	2	2	4	1	4	0	4	2	3	0	4	4	2	rs199662587		TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:3905468G>T	ENST00000450849.2	+	4	640	c.173G>T	c.(172-174)cGt>cTt	p.R58L	ATCAY_ENST00000398448.3_Missense_Mutation_p.R64L|ATCAY_ENST00000301260.6_Missense_Mutation_p.R58L|ATCAY_ENST00000600960.1_Missense_Mutation_p.R58L	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	58					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAGCGCATCGTAAGAGGAAG	0.493																																					p.R58L													.	ATCAY	84		0			c.G173T												54	55	55					19																	3905468		1943	4133	6076	SO:0001583	missense	85300	exon4			CGCATCGTAAGAG		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.173G>T	19.37:g.3905468G>T	ENSP00000390941:p.Arg58Leu		155	0.0064516129	1		101	0.12	12	NM_033064	1	1	1	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638539	0.47153	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.38077	1.18;1.18;1.16	4.8	4.8	0.61643	.	0.167864	0.51477	D	0.000081	T	0.42675	0.1213	M	0.69823	2.125	0.45899	D	0.998749	P;B	0.34780	0.468;0.21	B;B	0.36808	0.233;0.171	T	0.44605	-0.9317	10	0.45353	T	0.12	-4.7741	16.8586	0.86012	0.0:0.0:1.0:0.0	.	64;58	B4DS11;Q86WG3	.;ATCAY_HUMAN	L	58;58;58;64;36	ENSP00000390941:R58L;ENSP00000301260:R58L;ENSP00000381466:R64L	ENSP00000301260:R58L	R	+	2	0	ATCAY	3856468	1.000000	0.71417	0.543000	0.28128	0.338000	0.28826	7.203000	0.77864	2.210000	0.71456	0.549000	0.68633	CGT			0.493	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457872.2				T	3905468	G	T	3905468	3	4	118	1	0	0	0	0	1	0	0	0	1077	1145	40	1	183	1	ATCAY	19	3905468	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	2078551	3905468	55223515	60	8856											
ICAM5	7087	mdanderson.org	37	chr19	10407206	10407206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggcggggcggcaggcGcggagggcggacccgaggcg	4	1	24	12	8	0	0	0	0	0	0	0	3	0	2	1	9	0	2	1	9	0	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:10407206G>T	ENST00000221980.4	+	11	2752	c.2689G>T	c.(2689-2691)Gcg>Tcg	p.A897S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	897					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ggcggcaggcgcggagggcgg	0.751																																					p.A897S													.	.			0			c.G2689T												2	2	2					19																	10407206		992	1681	2673	SO:0001583	missense	7087	exon11			GCAGGCGCGGAGG	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2689G>T	19.37:g.10407206G>T	ENSP00000221980:p.Ala897Ser		11	0	0		21	0.14	3	NM_003259	0		0	Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649414	0.47362	.	.	ENSG00000105376	ENST00000221980	T	0.42131	0.98	3.75	3.75	0.43078	.	.	.	.	.	T	0.25306	0.0615	N	0.19112	0.55	0.09310	N	1	P	0.39601	0.68	B	0.33799	0.17	T	0.04635	-1.0937	9	0.26408	T	0.33	-23.4163	11.2619	0.49089	0.0:0.0:1.0:0.0	.	897	Q9UMF0	ICAM5_HUMAN	S	897	ENSP00000221980:A897S	ENSP00000221980:A897S	A	+	1	0	ICAM5	10268206	0.001000	0.12720	0.054000	0.19295	0.011000	0.07611	0.241000	0.18065	2.118000	0.64928	0.561000	0.74099	GCG			0.751	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451217.1		NM_003259		T	10407206	G	T	10407206	3	4	118	1	0	0	0	0	1	0	0	0	7498	1087	38	1	2731	1	ICAM5	19	10407206	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	6501738	10407206	48721777	61	8857											
NWD1	284434	mdanderson.org	37	chr19	16860654	16860654	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctggcctatgggctgcccTtgccccctgcccaggttctg	2	10	12	17	0	1	0	0	0	1	0	1	0	1	0	6	3	3	2	6	3	1	3			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:16860654T>C	ENST00000552788.1	+	4	1201	c.1201T>C	c.(1201-1203)Ttg>Ctg	p.L401L	NWD1_ENST00000523826.1_Silent_p.L195L|NWD1_ENST00000339803.6_Silent_p.L266L|NWD1_ENST00000379808.3_Silent_p.L401L|NWD1_ENST00000524140.2_Silent_p.L401L|NWD1_ENST00000549814.1_Silent_p.L401L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	401	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGGCTGCCCTTGCCCCCTGC	0.607																																					p.L401L													.	.			0			c.T1201C												42	44	43					19																	16860654		2203	4299	6502	SO:0001819	synonymous_variant	284434	exon6			CTGCCCTTGCCCC	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.1201T>C	19.37:g.16860654T>C			97	0	0		57	0.05	3	NM_001007525	0		0	C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																						0.607	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000403569.1		NM_001007525		C	16860654	T	C	16860654	2	2	118	1	0	0	0	0	0	0	0	1	10798	1606	56	4		4	NWD1	19	16860654	Silent	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10	6453448	16860654	42268329	62	8858											
ZNF536	9745	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	31040045	31040045	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggacatggactcctcCaagggggagaacaacgatga	14	5	13	9	1	1	3	1	1	0	2	3	7	3	5	2	4	2	0	2	4	3	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:31040045C>A	ENST00000355537.3	+	4	3666	c.3519C>A	c.(3517-3519)tcC>tcA	p.S1173S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1173					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGACTCCTCCAAGGGGGAGA	0.537																																					p.S1173S													.	ZNF536	424		0			c.C3519A												69	71	70					19																	31040045		2203	4300	6503	SO:0001819	synonymous_variant	9745	exon4			CTCCTCCAAGGGG		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3519C>A	19.37:g.31040045C>A			127	0.0078740157	1		103	0.13	13	NM_014717	1	0	0	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																					0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459667.2		NM_014717		A	31040045	C	A	31040045	2	1	118	1	0	0	0	0	0	0	0	1	17997	581	21	3		3	ZNF536	19	31040045	Silent	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	14179391	31040045	28088938	63	8859											
MLL4	9757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	36224181	36224181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctcctcggcgtgctgcCcgtggtcggagtggtccgcc	1	8	14	18	5	0	0	0	0	0	0	4	1	2	1	6	4	2	1	6	4	0	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:36224181C>G	ENST00000222270.7	+	28	6731	c.6731C>G	c.(6730-6732)cCc>cGc	p.P2244R	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P2244R	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2244					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)										GGCGTGCTGCCCGTGGTCGGA	0.751																																					p.P2244R													.	.			0			c.C6731G												14	14	14					19																	36224181		1554	3552	5106	SO:0001583	missense	8085	exon28			TGCTGCCCGTGGT	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.6731C>G	19.37:g.36224181C>G	ENSP00000222270:p.Pro2244Arg		94	0	0		65	0.22	14	NM_014727	23	0.17	4	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286604	0.23478	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84370	-1.84;-1.84	4.28	4.28	0.50868	.	0.386833	0.18934	N	0.127135	D	0.86777	0.6014	N	0.24115	0.695	0.40605	D	0.981612	D	0.89917	1.0	D	0.83275	0.996	D	0.88272	0.2930	10	0.66056	D	0.02	.	14.1616	0.65450	0.0:1.0:0.0:0.0	.	2244	Q9UMN6	MLL4_HUMAN	R	2244	ENSP00000222270:P2244R;ENSP00000398837:P2244R	ENSP00000222270:P2244R	P	+	2	0	AD000671.1	40916021	0.871000	0.30034	1.000000	0.80357	0.234000	0.25298	1.932000	0.40143	2.386000	0.81285	0.549000	0.68633	CCC			0.751	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_014727		G	36224181	C	G	36224181	3	3	118	1	0	0	0	0	1	0	0	0	9639	623	22	5	6841	5	MLL4	19	36224181	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	5184136	36224181	22904802	64	8860											
ARHGAP33	115703	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr19	36278481	36278481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgcccagctcagggCaggtggcgggggcagggatg	6	5	21	9	1	2	0	2	0	0	0	2	1	2	1	1	7	2	3	1	7	0	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:36278481C>T	ENST00000007510.4	+	21	3158	c.3014C>T	c.(3013-3015)gCa>gTa	p.A1005V	ARHGAP33_ENST00000378944.5_Intron|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A844V			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1005					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CAGCTCAGGGCAGGTGGCGGG	0.682																																					p.A844V													.	ARHGAP33	102		0			c.C2531T												17	21	20					19																	36278481		2184	4270	6454	SO:0001583	missense	115703	exon21			TCAGGGCAGGTGG	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3014C>T	19.37:g.36278481C>T	ENSP00000007510:p.Ala1005Val		97	0	0		46	0.09	4	NM_052948	17	0.24	4	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	C	7.457	0.643849	0.14451	.	.	ENSG00000004777	ENST00000007510;ENST00000314737	T;T	0.13538	3.07;2.58	4.67	-3.68	0.04463	.	1.777430	0.03049	N	0.154303	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25467	-1.0131	10	0.07990	T	0.79	.	1.3765	0.02221	0.1223:0.3099:0.241:0.3268	.	844	O14559-11	.	V	1005;844	ENSP00000007510:A1005V;ENSP00000320038:A844V	ENSP00000007510:A1005V	A	+	2	0	ARHGAP33	40970321	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-2.851000	0.00732	-0.437000	0.07243	0.462000	0.41574	GCA			0.682	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding				NM_052948		T	36278481	C	T	36278481	3	4	118	1	0	0	0	0	1	0	0	0	882	710	25	2	3096	2	ARHGAP33	19	36278481	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	54300	36278481	22850502	65	8861											
CYP2A6	1548	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	41354213	41354213	+	Frame_Shift_Del	DEL	C	C	-																															gtccttatagtcaaagcggtCcccaaagacaatggagctga																										TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:41354213delC	ENST00000301141.5	-	4	585	c.565delG	c.(565-567)gacfs	p.D189fs	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	189					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|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)	p.D189N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCAAAGCGGTCCCCAAAGACA	0.547																																					p.D189fs													.	CYP2A6	69		1	Substitution - Missense(1)	skin(1)	c.566delA												150	135	140					19																	41354213		2203	4300	6503	SO:0001589	frameshift_variant	1548	exon4			AGCGGTCCCCAAA	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.565delG	19.37:g.41354213delC	ENSP00000301141:p.Asp189fs		150	0	0		130	0.17	22	NM_000762	0		0	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Frame_Shift_Del	DEL	ENST00000301141.5	37	CCDS12568.1																																																																																					0.547	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463259.1		NM_000762		-	41354213	C	-	41354213	7	5	118	1	0	1	0	1	0	0	0	0	4164	855	30	0	943	0	CYP2A6	19	41354213	Frame_Shift_Del	DEL	C	TCGA-XE-AAO4-01A-11D-A435-10	5075732	41354213	17774770	66	8862											
ZNF233	353355	ucsc.edu	37	chr19	44778739	44778739	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagcccatcagagagtccaTactggagagaaaccatacaa	17	5	8	11	0	1	2	1	0	0	2	2	5	2	3	3	1	4	0	3	1	5	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:44778739T>C	ENST00000391958.2	+	5	2053	c.1926T>C	c.(1924-1926)caT>caC	p.H642H	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.H624H|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGAGAGTCCATACTGGAGAGA	0.433																																					p.H642H													.	ZNF233	73		0			c.T1926C												97	100	99					19																	44778739		2203	4300	6503	SO:0001819	synonymous_variant	353355	exon5			AGTCCATACTGGA	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1926T>C	19.37:g.44778739T>C			174	0	0		144	0.01	1	NM_001207005	34	0.12	4	B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	CCDS33047.1																																																																																					0.433	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000460737.1		NM_181756		C	44778739	T	C	44778739	2	2	118	1	0	0	0	0	0	0	0	1	17809	1403	49	4		4	ZNF233	19	44778739	Silent	SNP	T	TCGA-XE-AAO4-01A-11D-A435-10	3424526	44778739	14350244	67	8863											
LENG9	94059	mdanderson.org	37	chr19	54974255	54974255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtgggcccgcgtcccGccgccgagccagagccaaag	7	3	16	15	5	0	1	0	0	0	1	1	3	1	2	6	3	2	0	6	3	1	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:54974255G>A	ENST00000333834.4	-	1	639	c.521C>T	c.(520-522)gCg>gTg	p.A174V		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	174							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCGCGTCCCGCCGCCGAGCC	0.726																																					p.A174V													.	.			0			c.C521T												10	13	12					19																	54974255		2067	4131	6198	SO:0001583	missense	94059	exon1			CGTCCCGCCGCCG	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.521C>T	19.37:g.54974255G>A	ENSP00000331647:p.Ala174Val		12	0	0		23	0.13	3	NM_198988	2	0	0	B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681693	0.47991	.	.	ENSG00000182909	ENST00000333834	T	0.33216	1.42	3.63	-0.242	0.13039	.	0.381588	0.20167	U	0.097806	T	0.26011	0.0634	M	0.61703	1.905	0.09310	N	1	D	0.61080	0.989	B	0.41619	0.361	T	0.18777	-1.0326	10	0.52906	T	0.07	-12.2093	7.1906	0.25824	0.0:0.1661:0.4923:0.3416	.	174	Q96B70	LENG9_HUMAN	V	174	ENSP00000331647:A174V	ENSP00000331647:A174V	A	-	2	0	LENG9	59666067	0.016000	0.18221	0.000000	0.03702	0.006000	0.05464	1.271000	0.33098	-0.168000	0.10853	0.455000	0.32223	GCG			0.726	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000140806.3		NM_198988		A	54974255	G	A	54974255	3	1	118	1	0	0	0	0	1	0	0	0	8740	1087	38	1	988	1	LENG9	19	54974255	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	10195516	54974255	4154728	68	8864											
ZSCAN22	342945	mdanderson.org	37	chr19	58846207	58846207	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctgagcccagtgccgtgGgaagaggacagcttccttca	8	8	12	13	1	1	2	1	1	0	1	3	4	3	4	4	2	3	1	4	2	1	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr19:58846207G>A	ENST00000329665.4	+	2	186	c.39G>A	c.(37-39)tgG>tgA	p.W13*		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	13					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(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		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;0.0289)		CAGTGCCGTGGGAAGAGGACA	0.607																																					p.W13X													.	.			0			c.G39A												54	46	49					19																	58846207		2203	4300	6503	SO:0001587	stop_gained	342945	exon2			GCCGTGGGAAGAG	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.39G>A	19.37:g.58846207G>A	ENSP00000332433:p.Trp13*		41	0	0		36	0.08	3	NM_181846	0		0	Q15922|Q7Z3L8	Nonsense_Mutation	SNP	ENST00000329665.4	37	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436362	0.43224	.	.	ENSG00000182318	ENST00000329665	.	.	.	4.01	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	6.9233	0.24401	0.1236:0.0:0.8764:0.0	.	.	.	.	X	13	.	ENSP00000332433:W13X	W	+	3	0	ZSCAN22	63538019	0.959000	0.32827	0.640000	0.29408	0.034000	0.12701	1.201000	0.32259	2.252000	0.74401	0.591000	0.81541	TGG			0.607	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466765.1		NM_181846		A	58846207	G	A	58846207	4	1	118	1	0	0	0	0	0	1	0	0	18257	1241	43	3	41	3	ZSCAN22	19	58846207	Nonsense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	3871952	58846207	282776	69	8865											
NRSN2	80023	mdanderson.org	37	chr20	330397	330397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcttctatgaggactgtgCaggcactgctctcagcgacg	7	10	11	13	2	3	1	1	1	3	0	4	3	3	2	1	2	3	3	1	2	1	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr20:330397C>T	ENST00000382291.3	+	3	350	c.110C>T	c.(109-111)gCa>gTa	p.A37V	RP5-1103G7.4_ENST00000442637.1_RNA|NRSN2_ENST00000608736.1_Missense_Mutation_p.A37V|NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.A37V	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	37						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GAGGACTGTGCAGGCACTGCT	0.647																																					p.A37V													.	.			0			c.C110T												61	58	59					20																	330397		2203	4300	6503	SO:0001583	missense	80023	exon3			ACTGTGCAGGCAC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"chromosome 20 open reading frame 98"	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.110C>T	20.37:g.330397C>T	ENSP00000371728:p.Ala37Val		46	0	0		37	0.08	3	NM_024958	61	0	0	A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056767	0.36277	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.18960	2.18;2.18	4.31	1.04	0.20106	.	0.570642	0.16876	N	0.195926	T	0.16769	0.0403	L	0.53249	1.67	0.20975	N	0.999817	B	0.28291	0.206	B	0.28139	0.086	T	0.18650	-1.0330	10	0.51188	T	0.08	-0.3515	3.515	0.07722	0.0:0.5028:0.2386:0.2586	.	37	Q9GZP1	NRSN2_HUMAN	V	37	ENSP00000371728:A37V;ENSP00000371722:A37V	ENSP00000371722:A37V	A	+	2	0	NRSN2	278397	0.989000	0.36119	0.476000	0.27291	0.850000	0.48378	1.606000	0.36826	0.429000	0.26202	0.643000	0.83706	GCA			0.647	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077446.1		NM_024958		T	330397	C	T	330397	3	4	118	1	0	0	0	0	1	0	0	0	10680	710	25	2	112	2	NRSN2	20	330397	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10		330397	62695123	70	8866											
ASXL1	171023	mdanderson.org	37	chr20	31021114	31021114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccaaagaagagtcattGcagcagaacgtgggccagga	14	6	13	8	1	1	4	1	1	0	3	1	5	1	5	2	2	3	2	2	2	3	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr20:31021114G>T	ENST00000375687.4	+	12	1537	c.1113G>T	c.(1111-1113)ttG>ttT	p.L371F	ASXL1_ENST00000306058.5_Missense_Mutation_p.L366F	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	371	Interaction with NCOA1. {ECO:0000250}.				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						AAGAGTCATTGCAGCAGAACG	0.493			"F, N, Mis"		"MDS, CMML"																																p.L371F				Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	.			0			c.G1113T												77	64	68					20																	31021114		2203	4300	6503	SO:0001583	missense	171023	exon11			GTCATTGCAGCAG	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.1113G>T	20.37:g.31021114G>T	ENSP00000364839:p.Leu371Phe		69	0	0		56	0.05	3	NM_015338	9	0	0	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499088	0.44455	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058;ENST00000553345	T;T	0.16073	2.38;2.37	4.26	3.31	0.37934	.	0.259807	0.31760	N	0.007114	T	0.33469	0.0864	M	0.65975	2.015	0.45747	D	0.998643	D;D	0.76494	0.999;0.994	D;D	0.78314	0.991;0.938	T	0.05162	-1.0902	10	0.25106	T	0.35	-0.6995	8.9248	0.35634	0.1721:0.0:0.8279:0.0	.	366;371	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	F	371;371;371;310;366;143	ENSP00000364839:L371F;ENSP00000305119:L366F	ENSP00000305119:L366F	L	+	3	2	ASXL1	30484775	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.092000	0.41700	1.152000	0.42452	0.655000	0.94253	TTG			0.493	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078624.2		NM_015338		T	31021114	G	T	31021114	3	4	118	1	0	0	0	0	1	0	0	0	1066	1310	46	2	1165	2	ASXL1	20	31021114	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	30690717	31021114	32004406	71	8867											
NNAT	4826	bcgsc.ca	37	chr20	36151139	36151139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaggtgttgggggagcGcaggcagcgagcccccaact	7	4	18	12	3	0	0	0	0	0	0	0	2	0	1	2	5	4	4	2	5	1	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr20:36151139G>A	ENST00000062104.2	+	3	341	c.224G>A	c.(223-225)cGc>cAc	p.R75H	BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000414542.2_Intron|NNAT_ENST00000346199.2_Missense_Mutation_p.R48H|BLCAP_ENST00000397134.1_5'Flank|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000373537.2_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	75					brain development (GO:0007420)|neuron differentiation (GO:0030182)|positive regulation of insulin secretion (GO:0032024)|protein lipoylation (GO:0009249)|regulation of protein localization (GO:0032880)|response to glucose (GO:0009749)|transport (GO:0006810)	cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				TTGGGGGAGCGCAGGCAGCGA	0.677																																					p.R75H													.	NNAT	8		0			c.G224A												37	30	32					20																	36151139		2201	4300	6501	SO:0001583	missense	4826	exon3			GGGAGCGCAGGCA		CCDS13296.1, CCDS13297.1	20q11.2-q12	2007-12-07			ENSG00000053438	ENSG00000053438			7860	protein-coding gene	gene with protein product		603106				8660979	Standard	NM_005386		Approved	Peg5	uc002xhd.3	Q16517	OTTHUMG00000032420	ENST00000062104.2:c.224G>A	20.37:g.36151139G>A	ENSP00000062104:p.Arg75His		75	0	0		42	0.1	4	NM_005386	116	0	0	B2R558|E1P5V6|Q16596|Q5U0N3	Missense_Mutation	SNP	ENST00000062104.2	37	CCDS13296.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907969	0.72868	.	.	ENSG00000053438	ENST00000062104;ENST00000346199	.	.	.	5.0	4.05	0.47172	.	0.000000	0.48286	D	0.000181	T	0.47432	0.1445	.	.	.	0.30336	N	0.786179	D;D	0.59767	0.958;0.986	B;P	0.53006	0.099;0.715	T	0.52734	-0.8536	8	0.87932	D	0	-8.521	8.6775	0.34187	0.1003:0.0:0.8997:0.0	.	48;75	Q16517-2;Q16517	.;NNAT_HUMAN	H	75;48	.	ENSP00000062104:R75H	R	+	2	0	NNAT	35584553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.454000	0.35178	2.780000	0.95670	0.644000	0.83932	CGC			0.677	NNAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000079116.2		NM_005386		A	36151139	G	A	36151139	3	1	118	1	0	0	0	0	1	0	0	0	10525	1087	38	1	234	1	NNAT	20	36151139	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	5130025	36151139	26874381	72	8868											
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr20	60921757	60921757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcagtcgatacagacaCccccaccctgataggtgcca	10	6	9	16	1	0	2	0	1	0	1	1	3	0	2	5	2	2	1	5	2	2	2	rs556381906		TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr20:60921757C>A	ENST00000252999.3	-	8	1238	c.1172G>T	c.(1171-1173)gGt>gTt	p.G391V	LAMA5_ENST00000370677.3_Missense_Mutation_p.G391V|LAMA5_ENST00000370692.3_Missense_Mutation_p.G391V	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	391	Laminin EGF-like 2. {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)			GATACAGACACCCCCACCCTG	0.657																																					p.G391V													.	.			0			c.G1172T												54	57	56					20																	60921757		2202	4297	6499	SO:0001583	missense	3911	exon8			CAGACACCCCCAC	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.1172G>T	20.37:g.60921757C>A	ENSP00000252999:p.Gly391Val		95	0	0		67	0.12	8	NM_005560	0		0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315792	0.60524	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.69806	-0.43;-0.43;-0.43	4.54	4.54	0.55810	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.85548	0.5722	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89609	0.3840	10	0.87932	D	0	.	17.2818	0.87130	0.0:1.0:0.0:0.0	.	391	O15230	LAMA5_HUMAN	V	391	ENSP00000252999:G391V;ENSP00000359726:G391V;ENSP00000359711:G391V	ENSP00000252999:G391V	G	-	2	0	LAMA5	60355152	1.000000	0.71417	0.861000	0.33841	0.132000	0.20833	7.245000	0.78237	2.078000	0.62432	0.561000	0.74099	GGT			0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		A	60921757	C	A	60921757	3	1	118	1	0	0	0	0	1	0	0	0	8624	507	18	3	10207	3	LAMA5	20	60921757	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	24770618	60921757	2103763	73	8869											
N6AMT1	29104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	30257631	30257631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgccgcggcccacgtGcccgtggaacggcgtagcga	7	3	17	14	8	0	0	0	0	0	0	0	3	0	1	3	4	3	1	3	4	3	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr21:30257631G>A	ENST00000303775.5	-	1	62	c.37C>T	c.(37-39)Cac>Tac	p.H13Y	N6AMT1_ENST00000351429.3_Missense_Mutation_p.H13Y	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	13					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						CGGCCCACGTGCCCGTGGAAC	0.677																																					p.H13Y													.	.			0			c.C37T												33	35	34					21																	30257631		2201	4298	6499	SO:0001583	missense	29104	exon1			CCACGTGCCCGTG	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"chromosome 21 open reading frame 127", "HemK methyltransferase family member 2"	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.37C>T	21.37:g.30257631G>A	ENSP00000303584:p.His13Tyr		145	0	0		139	0.11	15	NM_182749	28	0.14	4	Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681325	0.96774	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.32272	2.1;1.46	5.18	5.18	0.71444	.	0.055063	0.85682	D	0.000000	T	0.56746	0.2006	M	0.84326	2.69	0.50039	D	0.999847	D;D	0.62365	0.991;0.971	D;D	0.66979	0.948;0.912	T	0.60151	-0.7319	10	0.56958	D	0.05	-14.2799	14.07	0.64854	0.0:0.0:1.0:0.0	.	13;13	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	Y	13	ENSP00000303584:H13Y;ENSP00000286764:H13Y	ENSP00000303584:H13Y	H	-	1	0	N6AMT1	29179502	1.000000	0.71417	0.958000	0.39756	0.591000	0.36615	6.734000	0.74801	2.704000	0.92352	0.585000	0.79938	CAC			0.677	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000171738.1		NM_013240		A	30257631	G	A	30257631	3	1	118	1	0	0	0	0	1	0	0	0	10130	1319	46	2	631	2	N6AMT1	21	30257631	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		30257631	17872264	74	8870											
CLDN14	23562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	37833547	37833547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgccgctgggcagcagcggGttgtagaagttctgcaccac	8	8	14	11	2	1	1	0	0	1	1	1	1	1	1	2	2	4	7	2	2	2	3			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr21:37833547G>T	ENST00000399137.1	-	3	1313	c.447C>A	c.(445-447)aaC>aaA	p.N149K	CLDN14_ENST00000399139.1_Missense_Mutation_p.N149K|AP000695.4_ENST00000454980.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000342108.2_Missense_Mutation_p.N149K|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.N149K|CLDN14_ENST00000399135.1_Missense_Mutation_p.N149K	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	149					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						GCAGCAGCGGGTTGTAGAAGT	0.622																																					p.N149K													.	.			0			c.C447A												82	78	79					21																	37833547		2203	4300	6503	SO:0001583	missense	23562	exon3			CAGCGGGTTGTAG	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.447C>A	21.37:g.37833547G>T	ENSP00000382090:p.Asn149Lys		75	0	0		72	0.29	21	NM_144492	0		0		Missense_Mutation	SNP	ENST00000399137.1	37	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872250	0.72180	.	.	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.42	5.42	0.78866	.	0.117701	0.56097	D	0.000037	D	0.92919	0.7747	M	0.93375	3.41	0.54753	D	0.999987	P	0.51057	0.941	P	0.51615	0.675	D	0.94332	0.7563	10	0.87932	D	0	.	13.5161	0.61541	0.0748:0.0:0.9252:0.0	.	149	O95500	CLD14_HUMAN	K	149	ENSP00000382092:N149K;ENSP00000382090:N149K;ENSP00000382087:N149K;ENSP00000382088:N149K;ENSP00000339292:N149K	ENSP00000339292:N149K	N	-	3	2	CLDN14	36755417	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.089000	0.50183	2.526000	0.85167	0.462000	0.41574	AAC			0.622	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194697.1		NM_144492		T	37833547	G	T	37833547	3	4	118	1	0	0	0	0	1	0	0	0	3477	1252	44	3	276	3	CLDN14	21	37833547	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	7575916	37833547	10296348	75	8871											
MYO18B	84700	mdanderson.org	37	chr22	26157088	26157088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcacgcctcgccctgtGggagcagaaggaaagtgaca	11	6	12	12	2	2	2	2	1	0	1	3	4	2	4	2	2	1	1	2	2	2	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr22:26157088G>T	ENST00000407587.2	+	2	198	c.29G>T	c.(28-30)tGg>tTg	p.W10L	MYO18B_ENST00000536101.1_Missense_Mutation_p.W10L|MYO18B_ENST00000335473.7_Missense_Mutation_p.W10L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	10						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						CTCGCCCTGTGGGAGCAGAAG	0.602																																					p.W10L													.	.			0			c.G29T												100	101	101					22																	26157088		2187	4278	6465	SO:0001583	missense	84700	exon2			CCCTGTGGGAGCA	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.29G>T	22.37:g.26157088G>T	ENSP00000386096:p.Trp10Leu		35	0	0		23	0.09	2	NM_032608	0		0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	22.4	4.286865	0.80803	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.96745	-4.08;-4.08;-4.11	5.3	5.3	0.74995	.	0.000000	0.33875	N	0.004477	D	0.97371	0.9140	L	0.59436	1.845	0.36424	D	0.864502	D	0.89917	1.0	D	0.87578	0.998	D	0.99940	1.1401	10	0.87932	D	0	.	14.4541	0.67404	0.0:0.0:1.0:0.0	.	10	F5GYU7	.	L	10	ENSP00000441229:W10L;ENSP00000334563:W10L;ENSP00000386096:W10L	ENSP00000334563:W10L	W	+	2	0	MYO18B	24487088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.191000	0.65110	2.487000	0.83934	0.591000	0.81541	TGG			0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000400691.1		NM_032608		T	26157088	G	T	26157088	3	4	118	1	0	0	0	0	1	0	0	0	10082	1357	47	3	31	3	MYO18B	22	26157088	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10		26157088	25147478	76	8872											
MN1	4330	mdanderson.org	37	chr22	28195275	28195275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggctcggaataagggtgCatgctccggttctccagccg	8	8	13	12	3	1	0	0	0	1	0	4	1	2	1	3	4	3	4	3	4	2	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr22:28195275C>T	ENST00000302326.4	-	1	2211	c.1257G>A	c.(1255-1257)atG>atA	p.M419I		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	419					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AATAAGGGTGCATGCTCCGGT	0.662			T	ETV6	"AML, meningioma"																																p.M419I				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	.			0			c.G1257A												16	20	18					22																	28195275		2108	4242	6350	SO:0001583	missense	4330	exon1			AGGGTGCATGCTC	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.1257G>A	22.37:g.28195275C>T	ENSP00000304956:p.Met419Ile		22	0	0		16	0.19	3	NM_002430	0		0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249833	0.39797	.	.	ENSG00000169184	ENST00000302326	T	0.44482	0.92	5.29	5.29	0.74685	.	2.230900	0.01609	N	0.022440	T	0.39332	0.1074	N	0.14661	0.345	0.41894	D	0.990384	P	0.42941	0.794	B	0.43052	0.406	T	0.36841	-0.9731	10	0.18710	T	0.47	-3.3172	17.9352	0.89010	0.0:1.0:0.0:0.0	.	419	Q10571	MN1_HUMAN	I	419	ENSP00000304956:M419I	ENSP00000304956:M419I	M	-	3	0	MN1	26525275	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.581000	0.67471	2.473000	0.83533	0.484000	0.47621	ATG			0.662	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320737.1		NM_002430		T	28195275	C	T	28195275	3	4	118	1	0	0	0	0	1	0	0	0	9689	710	25	2	2713	2	MN1	22	28195275	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	2038187	28195275	23109291	77	8873											
XRCC6	2547	broad.mit.edu	37	chr22	42059649	42059649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaaggttctggaagcaaaAggcccaaggtggagtattca	14	8	13	6	0	2	1	1	1	1	0	2	3	2	3	1	5	1	3	1	5	6	3			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr22:42059649A>G	ENST00000359308.4	+	12	2315	c.1660A>G	c.(1660-1662)Agg>Ggg	p.R554G	XRCC6_ENST00000405878.1_Missense_Mutation_p.R554G|XRCC6_ENST00000402580.3_Missense_Mutation_p.R513G|XRCC6_ENST00000360079.3_Missense_Mutation_p.R554G|XRCC6_ENST00000428575.2_Missense_Mutation_p.R421G|XRCC6_ENST00000405506.1_Missense_Mutation_p.R504G			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	554	Interaction with DEAF1.				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						TGGAAGCAAAAGGCCCAAGGT	0.547								Non-homologous end-joining																													p.R554G													XRCC6,NS,carcinoma,0,1	XRCC6	64	1	0			c.A1660G												101	100	100					22																	42059649		2203	4300	6503	SO:0001583	missense	2547	exon13			AGCAAAAGGCCCA	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.1660A>G	22.37:g.42059649A>G	ENSP00000352257:p.Arg554Gly		284	0.0035211268	1		187	0.02	4	NM_001469	6207	0	2	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148134	0.78001	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000405506	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.42	4.31	0.51392	Ku70/Ku80 C-terminal arm (1);	0.190291	0.56097	D	0.000024	T	0.47377	0.1442	L	0.38531	1.155	0.36750	D	0.882709	B;P;P	0.39044	0.086;0.656;0.51	B;P;P	0.52031	0.111;0.532;0.688	T	0.56926	-0.7898	10	0.51188	T	0.08	-14.4461	13.0006	0.58672	0.8564:0.1436:0.0:0.0	.	504;513;554	B1AHC9;B1AHC8;P12956	.;.;XRCC6_HUMAN	G	554;513;421;554;554;504	ENSP00000353192:R554G;ENSP00000384941:R513G;ENSP00000403679:R421G;ENSP00000352257:R554G;ENSP00000384257:R554G;ENSP00000384082:R504G	ENSP00000352257:R554G	R	+	1	2	XRCC6	40389595	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.783000	0.75078	2.052000	0.61016	0.460000	0.39030	AGG			0.547	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321688.1		NM_001469		G	42059649	A	G	42059649	3	3	118	1	0	0	0	0	1	0	0	0	17481	63	3	4	1706	4	XRCC6	22	42059649	Missense_Mutation	SNP	A	TCGA-XE-AAO4-01A-11D-A435-10	13864374	42059649	9244917	78	8874											
PHF21B	112885	mdanderson.org	37	chr22	45289362	45289362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccaggaggccgctgtagGcagggttggctgtgcttctt	4	12	15	10	1	2	0	0	0	2	0	3	1	2	1	2	5	1	6	2	5	1	4			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr22:45289362G>A	ENST00000313237.5	-	7	1085	c.935C>T	c.(934-936)gCc>gTc	p.A312V	PHF21B_ENST00000396103.3_Missense_Mutation_p.A270V|PHF21B_ENST00000404079.2_Missense_Mutation_p.A258V|PHF21B_ENST00000403565.1_Missense_Mutation_p.A108V|PHF21B_ENST00000447824.3_Missense_Mutation_p.A258V	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	312							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCCGCTGTAGGCAGGGTTGGC	0.632																																					p.A312V													.	.			0			c.C935T												118	88	98					22																	45289362		2203	4299	6502	SO:0001583	missense	112885	exon7			CTGTAGGCAGGGT	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.935C>T	22.37:g.45289362G>A	ENSP00000324403:p.Ala312Val		55	0	0		47	0.06	3	NM_138415	0		0	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489917	0.26686	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000414269	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	4.73	4.73	0.59995	.	0.078127	0.49305	D	0.000154	T	0.56292	0.1975	N	0.25201	0.72	0.47245	D	0.999367	P;D;D;D;D	0.71674	0.702;0.998;0.997;0.983;0.993	B;D;D;P;P	0.69142	0.438;0.962;0.917;0.7;0.907	T	0.48758	-0.9007	10	0.10636	T	0.68	-14.1703	18.076	0.89427	0.0:0.0:1.0:0.0	.	258;270;258;312;108	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;.;PF21B_HUMAN;.	V	108;312;270;258;258;108	ENSP00000385053:A108V;ENSP00000324403:A312V;ENSP00000379410:A270V;ENSP00000385105:A258V;ENSP00000388619:A258V;ENSP00000401091:A108V	ENSP00000324403:A312V	A	-	2	0	PHF21B	43668026	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.903000	0.69877	2.330000	0.79161	0.655000	0.94253	GCC			0.632	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000321731.2		NM_138415		A	45289362	G	A	45289362	3	1	118	1	0	0	0	0	1	0	0	0	11851	1203	42	2	688	2	PHF21B	22	45289362	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	3229713	45289362	6015204	79	8875											
MAPK8IP2	23542	mdanderson.org	37	chr22	51039298	51039298	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccttccactcgctgtcGccgccgggctgcaggtaccc	4	8	10	19	4	0	0	0	0	0	0	4	0	2	0	6	2	2	4	6	2	1	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chr22:51039298G>T	ENST00000329492.3	+	1	168	c.51G>T	c.(49-51)tcG>tcT	p.S17S	MAPK8IP2_ENST00000442429.2_Silent_p.S17S|MAPK8IP2_ENST00000399908.2_5'Flank|CHKB_ENST00000463053.1_Intron|MAPK8IP2_ENST00000008876.5_5'Flank|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Silent_p.S17S	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	17					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)		ACTCGCTGTCGCCGCCGGGCT	0.776																																					.													.	.			0			.												7	9	9					22																	51039298		1715	3876	5591	SO:0001819	synonymous_variant	23542	.			GCTGTCGCCGCCG	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	ENST00000329492.3:c.51G>T	22.37:g.51039298G>T			45	0	0		39	0.08	3	.	3	0	0	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Silent	SNP	ENST00000329492.3	37																																																																																						0.776	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_012324		T	51039298	G	T	51039298	2	4	118	1	0	0	0	0	0	0	0	1	9301	1074	38	1		1	MAPK8IP2	22	51039298	Silent	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	5749936	51039298	265268	80	8876											
PNPLA4	8228	broad.mit.edu	37	chrX	7868821	7868821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcttgcttgggggaaaaAgggcttggttgagtctcacc	7	12	13	9	0	2	1	1	1	2	0	4	2	3	2	2	4	1	3	2	4	2	4			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chrX:7868821A>G	ENST00000381042.4	-	7	838	c.668T>C	c.(667-669)cTt>cCt	p.L223P	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L136P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L223P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	223					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGGGGGAAAAAGGGCTTGGTT	0.353																																					p.L223P													.	PNPLA4	24		0			c.T668C												57	52	54					X																	7868821		2203	4299	6502	SO:0001583	missense	8228	exon7			GGAAAAAGGGCTT	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.668T>C	X.37:g.7868821A>G	ENSP00000370430:p.Leu223Pro		364	0	0		394	0.01	5	NM_004650	111	0	0	A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341460	0.41498	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	T;T;T	0.81078	-1.45;-1.45;-1.45	4.38	4.38	0.52667	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.193685	0.33127	N	0.005243	D	0.89866	0.6839	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90635	0.4570	10	0.87932	D	0	-22.634	9.3053	0.37872	1.0:0.0:0.0:0.0	.	223	P41247	PLPL4_HUMAN	P	223;223;136	ENSP00000370430:L223P;ENSP00000415245:L223P;ENSP00000443157:L136P	ENSP00000370430:L223P	L	-	2	0	PNPLA4	7828821	1.000000	0.71417	0.139000	0.22197	0.388000	0.30384	5.486000	0.66856	1.452000	0.47756	0.481000	0.45027	CTT			0.353	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055687.1		NM_004650		G	7868821	A	G	7868821	3	3	118	1	0	0	0	0	1	0	0	0	12184	72	3	4	97	4	PNPLA4	23	7868821	Missense_Mutation	SNP	A	TCGA-XE-AAO4-01A-11D-A435-10		7868821	147401739	81	8877											
POLA1	5422	broad.mit.edu	37	chrX	24833115	24833115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttgtgattggccagattCtttctgatcaaagccgggac	8	13	11	9	1	3	3	1	2	2	1	3	4	3	4	2	2	1	1	2	2	1	4			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chrX:24833115C>T	ENST00000379059.3	+	30	3313	c.3298C>T	c.(3298-3300)Ctt>Ttt	p.L1100F	POLA1_ENST00000379068.3_Missense_Mutation_p.L1106F	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1100					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGGCCAGATTCTTTCTGATCA	0.358																																					p.L1100F													.	POLA1	117		0			c.C3298T												62	60	61					X																	24833115		2203	4300	6503	SO:0001583	missense	5422	exon30			CAGATTCTTTCTG		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3298C>T	X.37:g.24833115C>T	ENSP00000368349:p.Leu1100Phe		53	0.2264150943	12		51	0.39	20	NM_016937	10	0	0	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107188	0.77096	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18338	2.22;2.22	5.97	5.97	0.96955	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	D	0.68192	0.956	T	0.39396	-0.9616	10	0.62326	D	0.03	-12.6551	19.3344	0.94309	0.0:1.0:0.0:0.0	.	1100	P09884	DPOLA_HUMAN	F	1106;1100	ENSP00000368358:L1106F;ENSP00000368349:L1100F	ENSP00000368349:L1100F	L	+	1	0	POLA1	24743036	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.475000	0.66787	2.519000	0.84933	0.544000	0.68410	CTT			0.358	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056111.1		NM_016937		T	24833115	C	T	24833115	3	4	118	1	0	0	0	0	1	0	0	0	12204	913	32	3	3416	3	POLA1	23	24833115	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	16964294	24833115	130437445	82	8878											
CXorf59	286464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	36162793	36162793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtggcagtggccagaaCaaagagacagaagaaggggg	14	3	18	6	0	0	4	0	0	0	4	0	5	0	4	1	5	1	2	1	5	4	0			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chrX:36162793C>A	ENST00000313548.4	+	11	1562	c.1376C>A	c.(1375-1377)aCa>aAa	p.T459K		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	459	CH.					integral component of membrane (GO:0016021)											gtggccagaacaaagagacag	0.443																																					p.T459K													.	.			0			c.C1376A												119	103	108					X																	36162793		2202	4300	6502	SO:0001583	missense	286464	exon11			CCAGAACAAAGAG	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1376C>A	X.37:g.36162793C>A	ENSP00000324767:p.Thr459Lys		109	0	0		97	0.33	32	NM_173695	3	0.33	1		Missense_Mutation	SNP	ENST00000313548.4	37	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	4.880	0.163553	0.09287	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	0.694	-0.349	0.12609	.	8.372750	0.01088	U	0.005125	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.33883	0.43	B	0.17722	0.019	T	0.09037	-1.0693	8	0.33940	T	0.23	.	.	.	.	.	459	Q8N9S7	CX059_HUMAN	K	459	.	ENSP00000324767:T459K	T	+	2	0	CXorf59	36072714	0.223000	0.23663	0.002000	0.10522	0.002000	0.02628	0.441000	0.21611	-0.227000	0.09884	-0.224000	0.12420	ACA			0.443	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_173695		A	36162793	C	A	36162793	3	1	118	1	0	0	0	0	1	0	0	0	4117	478	17	3	1414	3	CXorf59	23	36162793	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	11329678	36162793	119107767	83	8879											
SUV39H1	6839	mdanderson.org	37	chrX	48564674	48564674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatcattacctcagaggagGcagagcggcggggccagatc	11	5	15	10	2	2	4	2	0	0	4	3	5	2	5	2	5	2	1	2	5	1	1			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chrX:48564674G>T	ENST00000376687.3	+	4	1037	c.847G>T	c.(847-849)Gca>Tca	p.A283S	SUV39H1_ENST00000337852.6_Missense_Mutation_p.A294S|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R130S	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	283	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CTCAGAGGAGGCAGAGCGGCG	0.597																																					p.A283S													.	.			0			c.G847T												60	55	57					X																	48564674		2203	4300	6503	SO:0001583	missense	6839	exon4			GAGGAGGCAGAGC	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"Chromatin-modifying enzymes / K-methyltransferases"	11479	protein-coding gene	gene with protein product		300254	"suppressor of variegation 3-9 (Drosophila) homolog 1"	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.847G>T	X.37:g.48564674G>T	ENSP00000365877:p.Ala283Ser		60	0	0		46	0.07	3	NM_003173	18	0	0	B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.82|17.82	3.484208|3.484208	0.63962|0.63962	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687|ENST00000448548;ENST00000453214	D;D|.	0.84873|.	-1.91;-1.91|.	4.39|4.39	4.39|4.39	0.52855|0.52855	SET domain (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73674|0.73674	0.3617|0.3617	M|M	0.85630|0.85630	2.765|2.765	0.34664|0.34664	D|D	0.722947|0.722947	D;D|.	0.60575|.	0.988;0.988|.	D;D|.	0.68483|.	0.937;0.958|.	T|T	0.83346|0.83346	-0.0005|-0.0005	10|5	0.62326|.	D|.	0.03|.	.|.	13.4036|13.4036	0.60898|0.60898	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	294;283|.	B4DST0;O43463|.	.;SUV91_HUMAN|.	S|S	294;283|279;130	ENSP00000337976:A294S;ENSP00000365877:A283S|.	ENSP00000337976:A294S|.	A|R	+|+	1|3	0|2	SUV39H1|SUV39H1	48449618|48449618	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.376000|0.376000	0.30014|0.30014	9.595000|9.595000	0.98260|0.98260	2.024000|2.024000	0.59613|0.59613	0.287000|0.287000	0.19450|0.19450	GCA|AGG			0.597	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058909.1		NM_003173		T	48564674	G	T	48564674	3	4	118	1	0	0	0	0	1	0	0	0	15435	1203	42	2	861	2	SUV39H1	23	48564674	Missense_Mutation	SNP	G	TCGA-XE-AAO4-01A-11D-A435-10	12401881	48564674	106705886	84	8880											
FAM104B	90736	mdanderson.org	37	chrX	55172645	55172645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaactggggaaagtttgcatCgggttcagtaacaatctggt	11	11	13	6	1	2	0	1	0	1	0	3	2	2	1	0	4	3	4	0	4	4	3	rs1047042	byFrequency	TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chrX:55172645C>G	ENST00000358460.4	-	3	373	c.220G>C	c.(220-222)Gat>Cat	p.D74H	FAM104B_ENST00000332132.4_Missense_Mutation_p.D75H|FAM104B_ENST00000425133.2_Missense_Mutation_p.D75H|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Missense_Mutation_p.D71H|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.D73H			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	74				D -> V (in Ref. 1; BAG61768). {ECO:0000305}.						endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AAGTTTGCATCGGGTTCAGTA	0.468													C|||	5	0.0013245	0.0023	0	3775	,	,		14416	0		0	False		,,,				2504	0.002				p.D75H													.	.			0			c.G223C												136	110	119					X																	55172645		2203	4300	6503	SO:0001583	missense	90736	exon3			TTGCATCGGGTTC	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.220G>C	X.37:g.55172645C>G	ENSP00000364101:p.Asp74His		36	0	0		23	0.13	3	NM_001166700	160	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	3.193	-0.165363	0.06461	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	1.59	-1.04	0.10068	.	0.505297	0.17523	U	0.171170	T	0.25044	0.0608	N	0.14661	0.345	0.09310	N	1	B;P;P	0.46859	0.002;0.774;0.885	B;P;B	0.46479	0.001;0.518;0.241	T	0.15065	-1.0450	10	0.56958	D	0.05	-1.547	4.2247	0.10575	0.0:0.4679:0.0:0.5321	.	75;74;75	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	H	74;75;75;71;73	ENSP00000364101:D74H;ENSP00000333394:D75H;ENSP00000397188:D75H;ENSP00000421161:D71H;ENSP00000423164:D73H	ENSP00000333394:D75H	D	-	1	0	FAM104B	55189370	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.019000	0.12546	-0.355000	0.08199	-0.556000	0.04195	GAT			0.468	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		G	55172645	C	G	55172645	3	3	118	1	0	0	0	0	1	0	0	0	5396	884	31	5	232	5	FAM104B	23	55172645	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	6607971	55172645	100097915	85	8881											
ARMCX5	64860	broad.mit.edu	37	chrX	101858297	101858297	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccttgaactcccctgtgCagctggctggactgaaatta	8	10	10	13	0	0	2	0	2	0	0	1	3	1	3	4	2	3	3	4	2	3	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chrX:101858297C>T	ENST00000604957.1	+	1	3850	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.Q410*|ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.Q410*|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.Q410*|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.Q410*|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.Q410*|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	410										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CTCCCCTGTGCAGCTGGCTGG	0.408																																					p.Q410X													.	ARMCX5	55		0			c.C1228T												55	55	55					X																	101858297		2203	4300	6503	SO:0001587	stop_gained	64860	exon3			CCTGTGCAGCTGG		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1228C>T	X.37:g.101858297C>T	ENSP00000474720:p.Gln410*		299	0	0		248	0.02	4	NM_022838	83	0	0	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Nonsense_Mutation	SNP	ENST00000604957.1	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.958381	0.97145	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	.	.	.	3.9	3.9	0.45041	.	0.000000	0.40222	N	0.001143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.6811	10.4314	0.44409	0.0:1.0:0.0:0.0	.	.	.	.	X	410	.	ENSP00000246174:Q410X	Q	+	1	0	ARMCX5	101744953	0.765000	0.28485	0.039000	0.18376	0.021000	0.10359	1.700000	0.37815	2.219000	0.72066	0.529000	0.55759	CAG			0.408	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000469659.1		NM_022838		T	101858297	C	T	101858297	4	4	118	1	0	0	0	0	0	1	0	0	962	711	25	2	1230	2	ARMCX5	23	101858297	Nonsense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	46685652	101858297	53412263	86	8882											
MAGEC1	9947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	140994527	140994527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctcctctccagattcCtgtgagctcctctttctcct	4	15	5	17	0	4	2	0	1	4	1	9	2	6	2	6	0	1	1	6	0	0	2			TCGA-XE-AAO4-01A-11D-A435-10	TCGA-XE-AAO4-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b226b1b2-fdac-4e87-9e91-233ce726eb5e	e6598517-60b2-435d-802a-ee3f5101cb12	g.chrX:140994527C>T	ENST00000285879.4	+	4	1623	c.1337C>T	c.(1336-1338)cCt>cTt	p.P446L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	446										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)					CTCCAGATTCCTGTGAGCTCC	0.463										HNSCC(15;0.026)																											p.P446L													.	.			0			c.C1337T												96	105	102					X																	140994527		2197	4289	6486	SO:0001583	missense	9947	exon4			AGATTCCTGTGAG	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.1337C>T	X.37:g.140994527C>T	ENSP00000285879:p.Pro446Leu		267	0	0		234	0.28	66	NM_005462	4	0	0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	4.507	0.093990	0.08632	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.131	0.131	0.14755	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.10450	0.005	T	0.47586	-0.9106	9	0.45353	T	0.12	.	2.6709	0.05067	0.0:0.5187:0.0:0.4813	.	446	O60732	MAGC1_HUMAN	L	446	ENSP00000285879:P446L	ENSP00000285879:P446L	P	+	2	0	MAGEC1	140822193	0.001000	0.12720	0.007000	0.13788	0.007000	0.05969	0.243000	0.18106	0.157000	0.19338	0.158000	0.16466	CCT			0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058604.1		NM_005462		T	140994527	C	T	140994527	3	4	118	1	0	0	0	0	1	0	0	0	9196	681	24	3	1343	3	MAGEC1	23	140994527	Missense_Mutation	SNP	C	TCGA-XE-AAO4-01A-11D-A435-10	39136230	140994527	14276033	87	8883											
PTPRF	5792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	44057100	44057100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaagcacaacaccgacgcGgggctcctcacgaccgtggg	10	3	12	16	5	1	0	1	0	0	0	2	2	2	0	3	3	2	2	3	3	2	0	rs369903923	byFrequency	TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:44057100G>A	ENST00000359947.4	+	9	1747	c.1407G>A	c.(1405-1407)gcG>gcA	p.A469A	PTPRF_ENST00000438120.1_Silent_p.A469A|PTPRF_ENST00000372413.3_Silent_p.A469A|PTPRF_ENST00000372414.3_Silent_p.A469A|PTPRF_ENST00000422171.2_5'Flank	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	469	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACACCGACGCGGGGCTCCTCA	0.701													G|||	2	0.000399361	0	0	5008	,	,		15376	0		0	False		,,,				2504	0.002				p.A469A													.	.			0			c.G1407A												9	10	10					1																	44057100		2183	4273	6456	SO:0001819	synonymous_variant	5792	exon9			CGACGCGGGGCTC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1407G>A	1.37:g.44057100G>A			36	0	0		36	0.22	8	NM_002840	8	0.25	2	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.451|5.451	0.268216|0.268216	0.10349|0.10349	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568|ENST00000429895	.|.	.|.	.|.	5.62|5.62	-11.2|-11.2	0.00127|0.00127	.|.	.|.	.|.	.|.	.|.	T|T	0.47097|0.47097	0.1427|0.1427	.|.	.|.	.|.	0.47009|0.47009	D|D	0.999285|0.999285	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70335|0.70335	-0.4900|-0.4900	4|4	.|.	.|.	.|.	.|.	9.6623|9.6623	0.39962|0.39962	0.114:0.2523:0.5322:0.1014|0.114:0.2523:0.5322:0.1014	.|.	.|.	.|.	.|.	R|Q	137|126	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43829687|43829687	0.024000|0.024000	0.19004|0.19004	0.000000|0.000000	0.03702|0.03702	0.475000|0.475000	0.33008|0.33008	-0.636000|-0.636000	0.05465|0.05465	-5.194000|-5.194000	0.00019|0.00019	-0.440000|-0.440000	0.05779|0.05779	GGG|CGG			0.701	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000019710.1				A	44057100	G	A	44057100	2	1	119	1	0	0	0	0	0	0	0	1	12824	1103	39	1		1	PTPRF	1	44057100	Silent	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10		44057100	205193521	1	8884											
CPT2	1376	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	53676901	53676902	+	Frame_Shift_Del	DEL	GA	GA	-																															gctctgaggcctttgtcaggGagccctccaggcacagtgct																										TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	GA	GA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:53676901_53676902delGA	ENST00000371486.3	+	4	2070_2071	c.1555_1556delGA	c.(1555-1557)gagfs	p.E519fs	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	519					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTTGTCAGGGAGCCCTCCAGG	0.589																																					p.518_519del													.	CPT2	34		0			c.1554_1555del																																									SO:0001589	frameshift_variant	1376	exon4			GTCAGGGAGCCCT	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1555_1556delGA	1.37:g.53676901_53676902delGA	ENSP00000360541:p.Glu519fs		81	0	0		95	0.35	33	NM_000098	9	0	0	B2R6S0|Q5SW68|Q9BQ26	Frame_Shift_Del	DEL	ENST00000371486.3	37	CCDS575.1																																																																																					0.589	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000024757.1		NM_000098		-	53676902	GA	-	53676901	7	5	119	1	0	1	0	1	0	0	0	0	3836	1175	41	0	1569	0	CPT2	1	53676901	Frame_Shift_Del	DEL	GA	TCGA-XE-AAO6-01A-31D-A435-10	9619801	53676901	195573720	2	8885											
WDR78	79819	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	67313188	67313188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttaaaacaggaagctgacGataagctgcaagtttgggct	13	11	11	6	1	0	1	0	1	0	0	0	3	0	2	0	2	4	5	0	2	5	4			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:67313188G>A	ENST00000371026.3	-	8	1325	c.1270C>T	c.(1270-1272)Cgt>Tgt	p.R424C	WDR78_ENST00000431318.1_Missense_Mutation_p.R170C|WDR78_ENST00000371023.3_Missense_Mutation_p.R424C	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	424					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GGAAGCTGACGATAAGCTGCA	0.358																																					p.R424C													.	.			0			c.C1270T												58	59	58					1																	67313188		2203	4300	6503	SO:0001583	missense	79819	exon8			GCTGACGATAAGC	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1270C>T	1.37:g.67313188G>A	ENSP00000360065:p.Arg424Cys		215	0	0		213	0.19	40	NM_207014	3	0.33	1	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875509	0.72180	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023	T;T;T;T	0.78003	-0.32;-1.14;-0.97;1.02	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.992	D	0.87665	0.2537	10	0.87932	D	0	-17.0667	17.478	0.87666	0.0:0.0:1.0:0.0	.	170;424;424	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	C	424;170;190;424	ENSP00000360065:R424C;ENSP00000393182:R170C;ENSP00000433682:R190C;ENSP00000360062:R424C	ENSP00000360062:R424C	R	-	1	0	WDR78	67085776	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.638000	0.67861	2.496000	0.84212	0.455000	0.32223	CGT			0.358	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025404.1		NM_024763		A	67313188	G	A	67313188	3	1	119	1	0	0	0	0	1	0	0	0	17352	1058	37	1	1373	1	WDR78	1	67313188	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	13636287	67313188	181937433	3	8886											
NRAS	4893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	7	15	8	11	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	3	5	rs11554290	byFrequency	TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	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)																											p.Q61R				Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	NRAS,NS,haematopoietic_neoplasm,-1,2068	NRAS	-1	2068	1016	Substitution - Missense(1016)	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)	c.A182G												180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	TCTTCTTGTCCAG	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		137	0	0		210	0.19	39	NM_002524	15	0	0	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	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		C	115256529	T	C	115256529	3	2	119	1	0	0	0	0	1	0	0	0	10657	1812	63	4	399	4	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-XE-AAO6-01A-31D-A435-10	47943341	115256529	133994092	4	8887											
FLG2	388698	hgsc.bcm.edu	37	chr1	152328051	152328051	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggactgacctgagccTgatccatgttggccaaagct	10	8	11	12	0	0	4	0	3	0	1	1	5	1	5	5	2	2	2	5	2	1	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:152328051T>C	ENST00000388718.5	-	3	2283	c.2211A>G	c.(2209-2211)tcA>tcG	p.S737S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	737	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)			GACCTGAGCCTGATCCATGTT	0.502																																					p.S737S													FLG2,NS,carcinoma,-1,1	FLG2	-1	1	0			c.A2211G												313	309	310					1																	152328051		2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			TGAGCCTGATCCA	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.2211A>G	1.37:g.152328051T>C			158	0	0		172	0.04	7	NM_001014342	0		0	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																					0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034018.5		NM_001014342		C	152328051	T	C	152328051	2	2	119	1	0	0	0	0	0	0	0	1	5936	1567	55	4		4	FLG2	1	152328051	Silent	SNP	T	TCGA-XE-AAO6-01A-31D-A435-10	37071522	152328051	96922570	5	8888											
LOR	4014	broad.mit.edu	37	chr1	153233515	153233515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggcggcggcagcggCggtggtggctgcggcttctt	1	8	22	10	6	1	0	0	0	1	0	1	0	1	0	0	10	2	3	0	10	0	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:153233515C>T	ENST00000368742.3	+	2	147	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	30					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggcagcggcggtggtggct	0.697																																					p.G30G													.	LOR	19		0			c.C90T												6	8	8					1																	153233515		1962	3919	5881	SO:0001819	synonymous_variant	4014	exon2			CAGCGGCGGTGGT	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.90C>T	1.37:g.153233515C>T			68	0	0		102	0.06	6	NM_000427	0		0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																					0.697	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039107.1		NM_000427		T	153233515	C	T	153233515	2	4	119	1	0	0	0	0	0	0	0	1	8913	755	27	1		1	LOR	1	153233515	Silent	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	905464	153233515	96017106	6	8889											
SHE	126669	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	154461552	154461554	+	In_Frame_Del	DEL	CTT	CTT	-																															agagcccgcacgatctgctcCttcttccactcccatggctg																										TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	CTT	CTT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:154461552_154461554delCTT	ENST00000304760.2	-	3	1083_1085	c.997_999delAAG	c.(997-999)aagdel	p.K333del		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	333										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGATCTGCTCCTTCTTCCACTCC	0.675																																					p.333_334del													.	SHE	41		0			c.998_1000del																																									SO:0001651	inframe_deletion	126669	exon3			CTGCTCCTTCTTC	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.997_999delAAG	1.37:g.154461555_154461557delCTT	ENSP00000307369:p.Lys333del		121	0	0		155	0.15	24	NM_001010846	15	0	0	Q8TEQ5	In_Frame_Del	DEL	ENST00000304760.2	37	CCDS30877.1																																																																																					0.675	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087910.2		NM_001010846		-	154461554	CTT	-	154461552	7	5	119	1	0	1	0	1	0	0	0	0	14299	680	24	0	504	0	SHE	1	154461552	In_Frame_Del	DEL	CTT	TCGA-XE-AAO6-01A-31D-A435-10	1228037	154461552	94789069	7	8890											
KIRREL	55243	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	157963501	157963501	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtctggatcctcactctctCcgatactttctcccaaggta	7	13	6	15	2	4	0	1	0	3	0	8	2	6	1	3	2	1	1	3	2	3	3			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:157963501C>G	ENST00000359209.6	+	1	102	c.35C>G	c.(34-36)tCc>tGc	p.S12C	KIRREL_ENST00000392272.2_Missense_Mutation_p.S12C|KIRREL_ENST00000416935.2_Missense_Mutation_p.S12C|KIRREL_ENST00000368173.3_Missense_Mutation_p.S12C|KIRREL_ENST00000360089.4_5'UTR			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	12					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTCACTCTCTCCGATACTTTC	0.721																																					p.S12C													.	.			0			c.C35G												21	26	24					1																	157963501		692	1591	2283	SO:0001583	missense	55243	exon1			CTCTCTCCGATAC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.35C>G	1.37:g.157963501C>G	ENSP00000352138:p.Ser12Cys		241	0	0		342	0.13	44	NM_018240	0		0	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573715	0.28092	.	.	ENSG00000183853	ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935	T;T;T;T	0.69685	-0.42;0.2;-0.04;0.02	3.69	1.76	0.24704	.	.	.	.	.	T	0.42877	0.1222	L	0.29908	0.895	0.19575	N	0.999961	P;P	0.46578	0.88;0.88	P;P	0.52481	0.7;0.7	T	0.25950	-1.0117	9	0.44086	T	0.13	-4.515	4.0996	0.10007	0.2304:0.6448:0.0:0.1248	.	12;12	B4DN67;Q96J84	.;KIRR1_HUMAN	C	12	ENSP00000357155:S12C;ENSP00000376098:S12C;ENSP00000352138:S12C;ENSP00000389674:S12C	ENSP00000352138:S12C	S	+	2	0	KIRREL	156230125	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	0.962000	0.29280	0.238000	0.21222	0.313000	0.20887	TCC			0.721	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000058342.3		NM_018240		G	157963501	C	G	157963501	3	3	119	1	0	0	0	0	1	0	0	0	8339	855	30	5	37	5	KIRREL	1	157963501	Missense_Mutation	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	3501949	157963501	91287120	8	8891											
ABL2	27	broad.mit.edu	37	chr1	179198478	179198478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgccccggatcccgcgggGctgaggctgctggagccccg	3	5	17	16	4	0	1	0	1	0	0	1	3	1	3	5	5	3	4	5	5	0	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:179198478G>T	ENST00000502732.1	-	1	258	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	ABL2_ENST00000392043.3_Missense_Mutation_p.P19T|ABL2_ENST00000507173.1_Missense_Mutation_p.P19T|ABL2_ENST00000511413.1_Missense_Mutation_p.P19T|ABL2_ENST00000367623.4_Missense_Mutation_p.P19T	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	19	CAP.				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)	ATCCCGCGGGGCTGAGGCTGC	0.736			T	ETV6	AML																																p.P19T				Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	.	ABL2	307		0			c.C55A												5	7	6					1																	179198478		2097	4097	6194	SO:0001583	missense	27	exon1			CGCGGGGCTGAGG	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.55C>A	1.37:g.179198478G>T	ENSP00000427562:p.Pro19Thr		61	0.0327868852	2		98	0.07	7	NM_001168238	3	0	0	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360684	0.61403	.	.	ENSG00000143322	ENST00000502732;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T	0.74421	-0.82;-0.83;-0.79;-0.8;-0.84	3.96	1.76	0.24704	.	.	.	.	.	T	0.55784	0.1942	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.20780	0.048;0.048;0.048;0.009;0.028	B;B;B;B;B	0.19391	0.025;0.005;0.005;0.003;0.011	T	0.39881	-0.9592	9	0.14656	T	0.56	.	9.5389	0.39240	0.0:0.4218:0.5782:0.0	.	19;19;19;19;19	P42684-6;P42684-7;P42684-5;P42684-8;P42684	.;.;.;.;ABL2_HUMAN	T	19	ENSP00000427562:P19T;ENSP00000356595:P19T;ENSP00000423413:P19T;ENSP00000424697:P19T;ENSP00000375897:P19T	ENSP00000356595:P19T	P	-	1	0	ABL2	177465101	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	1.850000	0.39328	0.713000	0.32060	0.205000	0.17691	CCC			0.736	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000085174.3		NM_005158		T	179198478	G	T	179198478	3	4	119	1	0	0	0	0	1	0	0	0	93	1203	42	2	3702	2	ABL2	1	179198478	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	21234977	179198478	70052143	9	8892											
RAB3GAP2	25782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	220340992	220340992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctgtttaaatatccaCttggctacactgtctgcaat	11	14	6	10	0	1	0	0	0	1	0	3	0	3	0	2	1	2	3	2	1	6	5			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:220340992C>T	ENST00000358951.2	-	25	2948	c.2832G>A	c.(2830-2832)aaG>aaA	p.K944K		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	944					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TAAATATCCACTTGGCTACAC	0.398																																					p.K944K													.	.			0			c.G2832A												154	161	158					1																	220340992		2203	4300	6503	SO:0001819	synonymous_variant	25782	exon25			TATCCACTTGGCT	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2832G>A	1.37:g.220340992C>T			175	0	0		211	0.17	36	NM_012414	1	0	0	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	CCDS31028.1																																																																																					0.398	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090205.2		NM_012414		T	220340992	C	T	220340992	2	4	119	1	0	0	0	0	0	0	0	1	12959	564	20	3		3	RAB3GAP2	1	220340992	Silent	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	41142514	220340992	28909629	10	8893											
FMN2	56776	broad.mit.edu	37	chr1	240371517	240371517	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccccctcctccccctctTcccggagcgggcatacctcc	5	8	6	22	2	1	0	0	0	1	0	5	1	5	1	8	2	3	1	8	2	2	3	rs369474345		TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr1:240371517T>A	ENST00000319653.9	+	5	3635	c.3405T>A	c.(3403-3405)ctT>ctA	p.L1135L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1135	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCCCTCTTCCCGGAGCGG	0.706																																					p.L1135L													FMN2,NS,carcinoma,+2,1	FMN2	451	1	0			c.T3405A							T		30,4102		0,30,2036	6	8	7		3405	-6.6	0	1		7	19,8117		0,19,4049	no	coding-synonymous	FMN2	NM_020066.4		0,49,6085	AA,AT,TT		0.2335,0.726,0.3994		1135/1723	240371517	49,12219	2066	4068	6134	SO:0001819	synonymous_variant	56776	exon5			CCCTCTTCCCGGA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3405T>A	1.37:g.240371517T>A			66	0.0303030303	2		98	0.07	7	NM_020066	3	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																					0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		A	240371517	T	A	240371517	2	1	119	1	0	0	0	0	0	0	0	1	5963	1770	62	5		5	FMN2	1	240371517	Silent	SNP	T	TCGA-XE-AAO6-01A-31D-A435-10	20030525	240371517	8879104	11	8894											
KIF3C	3797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	26203245	26203245	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctctggggcccttaccttGtacttggccgcaagcagctc	5	11	10	15	1	1	0	0	0	1	0	3	0	2	0	4	3	4	4	4	3	3	4			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr2:26203245G>C	ENST00000264712.3	-	1	2121	c.1542C>G	c.(1540-1542)taC>taG	p.Y514*	KIF3C_ENST00000405914.1_Nonsense_Mutation_p.Y514*	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	514					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTTACCTTGTACTTGGCCG	0.617																																					p.Y514X													.	.			0			c.C1542G												45	44	44					2																	26203245		2203	4300	6503	SO:0001587	stop_gained	3797	exon1			TACCTTGTACTTG		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1542C>G	2.37:g.26203245G>C	ENSP00000264712:p.Tyr514*		55	0	0		104	0.15	16	NM_002254	7	0.14	1	O43544|Q4ZG18|Q53SX5|Q562F7	Nonsense_Mutation	SNP	ENST00000264712.3	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	44	11.232290	0.99534	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	.	.	.	5.62	5.62	0.85841	.	0.172876	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	18.223	0.89907	0.0:0.0:1.0:0.0	.	.	.	.	X	514;320;514	.	ENSP00000264712:Y514X	Y	-	3	2	KIF3C	26056749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.627000	0.67784	2.653000	0.90120	0.655000	0.94253	TAC			0.617	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211611.1				C	26203245	G	C	26203245	4	2	119	1	0	0	0	0	0	1	0	0	8317	1372	48	5	871	5	KIF3C	2	26203245	Nonsense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10		26203245	216996128	12	8895											
GPR45	11250	mdanderson.org	37	chr2	105859003	105859003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaacgccgtgcgcgtgCacaaccagtcggacagcctg	10	4	13	14	5	0	1	0	0	0	1	1	2	0	2	3	1	5	2	3	1	3	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr2:105859003C>T	ENST00000258456.1	+	1	804	c.688C>T	c.(688-690)Cac>Tac	p.H230Y		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	230						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						CGTGCGCGTGCACAACCAGTC	0.652																																					p.H230Y													.	.			0			c.C688T												76	78	77					2																	105859003		2203	4300	6503	SO:0001583	missense	11250	exon1			CGCGTGCACAACC	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.688C>T	2.37:g.105859003C>T	ENSP00000258456:p.His230Tyr		37	0	0		33	0.09	3	NM_007227	0		0	Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123375	0.77436	.	.	ENSG00000135973	ENST00000258456	T	0.37915	1.17	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.057139	0.64402	D	0.000001	T	0.55369	0.1916	M	0.80183	2.485	0.54753	D	0.999983	P	0.37636	0.603	P	0.47376	0.545	T	0.61505	-0.7049	10	0.72032	D	0.01	-29.3292	18.125	0.89583	0.0:1.0:0.0:0.0	.	230	Q9Y5Y3	GPR45_HUMAN	Y	230	ENSP00000258456:H230Y	ENSP00000258456:H230Y	H	+	1	0	GPR45	105225435	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	4.909000	0.63314	2.373000	0.80994	0.462000	0.41574	CAC			0.652	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253348.1		NM_007227		T	105859003	C	T	105859003	3	4	119	1	0	0	0	0	1	0	0	0	6710	710	25	2	690	2	GPR45	2	105859003	Missense_Mutation	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	79655758	105859003	137340370	13	8896											
WDR52	55779	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr3	113115497	113115497	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgcaaaaatcgtgagcccTtttggatcataaagttcaag	13	10	8	10	2	2	1	2	1	0	0	3	2	2	2	2	1	1	2	2	1	5	4			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr3:113115497T>C	ENST00000295868.2	-	14	1809	c.1647A>G	c.(1645-1647)aaA>aaG	p.K549K	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Silent_p.K549K	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						TCGTGAGCCCTTTTGGATCAT	0.378																																					p.K549K													.	.			0			c.A1647G												89	92	91					3																	113115497		2203	4300	6503	SO:0001819	synonymous_variant	55779	exon14			GAGCCCTTTTGGA																												ENST00000295868.2:c.1647A>G	3.37:g.113115497T>C			103	0	0		98	0.04	4	NM_001164496	10	0	0		Silent	SNP	ENST00000295868.2	37	CCDS2972.1																																																																																					0.378	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000354128.3				C	113115497	T	C	113115497	2	2	119	1	0	0	0	0	0	0	0	1	17328	1606	56	4		4	WDR52	3	113115497	Silent	SNP	T	TCGA-XE-AAO6-01A-31D-A435-10		113115497	84906933	14	8897											
EEFSEC	60678	mdanderson.org	37	chr3	127872594	127872594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggccgagcccgagcccGgcgagccactgcttcaggtc	6	4	14	17	5	1	0	1	0	0	0	2	4	1	0	5	3	4	1	5	3	0	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr3:127872594G>C	ENST00000254730.6	+	1	298	c.244G>C	c.(244-246)Ggc>Cgc	p.G82R	EEFSEC_ENST00000483457.1_Missense_Mutation_p.G82R|RUVBL1_ENST00000464873.1_5'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	82	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCCCGAGCCCGGCGAGCCACT	0.741																																					p.G82R													.	.			0			c.G244C												3	5	4					3																	127872594		1797	3775	5572	SO:0001583	missense	60678	exon1			GAGCCCGGCGAGC		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.244G>C	3.37:g.127872594G>C	ENSP00000254730:p.Gly82Arg		10	0	0		9	0.11	1	NM_021937	7	0	0	Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437941	0.43326	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.69926	-0.44;-0.44	3.99	3.09	0.35607	Protein synthesis factor, GTP-binding (1);	0.482842	0.20710	N	0.087118	T	0.70631	0.3246	M	0.77103	2.36	0.28474	N	0.915286	P;P	0.36647	0.563;0.519	B;B	0.43728	0.429;0.355	T	0.66464	-0.5917	10	0.52906	T	0.07	-14.095	10.4604	0.44577	0.1008:0.0:0.8992:0.0	.	82;82	C9J8T0;P57772	.;SELB_HUMAN	R	82	ENSP00000254730:G82R;ENSP00000417660:G82R	ENSP00000254730:G82R	G	+	1	0	EEFSEC	129355284	0.832000	0.29368	0.042000	0.18584	0.076000	0.17211	3.487000	0.53222	0.769000	0.33313	0.585000	0.79938	GGC			0.741	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356738.2		NM_021937		C	127872594	G	C	127872594	3	2	119	1	0	0	0	0	1	0	0	0	4936	1116	39	5	246	5	EEFSEC	3	127872594	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	14757097	127872594	70149836	15	8898											
ZBTB38	253461	broad.mit.edu	37	chr3	141164031	141164031	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagacagttgaaaaaaaTgaggaaagtcaactggagga	19	6	11	5	0	1	3	1	2	0	1	2	6	2	6	1	3	1	1	1	3	5	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr3:141164031T>G	ENST00000514251.1	+	4	3080	c.2801T>G	c.(2800-2802)aTg>aGg	p.M934R	ZBTB38_ENST00000321464.5_Missense_Mutation_p.M935R|ZBTB38_ENST00000441582.2_Missense_Mutation_p.M934R					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTGAAAAAAATGAGGAAAGTC	0.493																																					p.M934R													.	ZBTB38	92		0			c.T2801G												46	45	45					3																	141164031		1865	4116	5981	SO:0001583	missense	253461	exon8			AAAAAATGAGGAA	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2801T>G	3.37:g.141164031T>G	ENSP00000426387:p.Met934Arg		163	0.0122699387	2		176	0.05	8	NM_001080412	0		0		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	T	8.742	0.919285	0.17982	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08458	3.09;3.09;3.09	5.37	5.37	0.77165	.	0.369710	0.29466	N	0.012079	T	0.08403	0.0209	L	0.29908	0.895	0.44515	D	0.997468	B;B	0.33379	0.41;0.41	B;B	0.35550	0.205;0.205	T	0.39313	-0.9620	9	.	.	.	-14.9439	15.3825	0.74669	0.0:0.0:0.0:1.0	.	935;934	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	R	934;934;935	ENSP00000426387:M934R;ENSP00000406955:M934R;ENSP00000372635:M935R	.	M	+	2	0	ZBTB38	142646721	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	1.674000	0.37544	2.042000	0.60477	0.528000	0.53228	ATG			0.493	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359329.2				G	141164031	T	G	141164031	3	3	119	1	0	0	0	0	1	0	0	0	17562	1464	51	4	2803	4	ZBTB38	3	141164031	Missense_Mutation	SNP	T	TCGA-XE-AAO6-01A-31D-A435-10	13291437	141164031	56858399	16	8899											
USP13	8975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	179439252	179439252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgagtgggaagtgatccaGgagtcgggcacgaaactgaa	13	6	16	6	2	0	3	0	3	0	0	2	6	1	5	1	3	1	1	1	3	3	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr3:179439252G>C	ENST00000263966.3	+	8	1434	c.963G>C	c.(961-963)caG>caC	p.Q321H	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.Q256H	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	321					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AAGTGATCCAGGAGTCGGGCA	0.498																																					p.Q321H													.	.			0			c.G963C												129	114	119					3																	179439252		2203	4300	6503	SO:0001583	missense	8975	exon8			GATCCAGGAGTCG	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.963G>C	3.37:g.179439252G>C	ENSP00000263966:p.Gln321His		164	0	0		218	0.19	42	NM_003940	4	0	0	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768009	0.69878	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.15603	2.42;2.41	6.03	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	M	0.85462	2.755	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.984	T	0.13308	-1.0514	10	0.49607	T	0.09	-19.4637	8.9909	0.36024	0.4112:0.0:0.5888:0.0	.	321;321	Q92995;A8K2S3	UBP13_HUMAN;.	H	321;256	ENSP00000263966:Q321H;ENSP00000417146:Q256H	ENSP00000263966:Q321H	Q	+	3	2	USP13	180921946	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	2.406000	0.44557	0.153000	0.19213	0.655000	0.94253	CAG			0.498	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349617.1				C	179439252	G	C	179439252	3	2	119	1	0	0	0	0	1	0	0	0	17068	991	35	5	993	5	USP13	3	179439252	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	38275221	179439252	18583178	17	8900											
NR3C2	4306	broad.mit.edu;mdanderson.org	37	chr4	149356894	149356894	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttcctcagtcttaggaaaAgggacctcttgagcaccttt	10	12	8	11	0	3	1	1	1	2	0	4	3	4	3	3	2	1	1	3	2	3	4			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr4:149356894A>G	ENST00000358102.3	-	2	1481	c.1119T>C	c.(1117-1119)ccT>ccC	p.P373P	NR3C2_ENST00000355292.3_Silent_p.P373P|NR3C2_ENST00000511528.1_Silent_p.P373P|NR3C2_ENST00000344721.4_Silent_p.P373P|NR3C2_ENST00000512865.1_Silent_p.P373P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	373	Modulating.				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)	TCTTAGGAAAAGGGACCTCTT	0.493																																					p.P373P	Melanoma(27;428 957 40335 51025 51111)												.	NR3C2	94		0			c.T1119C												101	99	99					4																	149356894		2203	4300	6503	SO:0001819	synonymous_variant	0	exon2			AGGAAAAGGGACC	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.1119T>C	4.37:g.149356894A>G			124	0.0080645161	1		101	0.04	4	NM_001166104	0		0	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	CCDS3772.1																																																																																					0.493	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364986.1				G	149356894	A	G	149356894	2	3	119	1	0	0	0	0	0	0	0	1	10648	59	3	4		4	NR3C2	4	149356894	Silent	SNP	A	TCGA-XE-AAO6-01A-31D-A435-10		149356894	41797382	18	8901											
CHD1	1105	broad.mit.edu;mdanderson.org	37	chr5	98239547	98239547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttgttgctgctgctgCtgttgctgcttcttgaggat	2	19	13	7	0	1	1	0	1	1	0	1	2	1	2	0	1	6	10	0	1	0	6			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr5:98239547C>T	ENST00000284049.3	-	3	470	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	107					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	gctgctgctgctgttgctgct	0.393																																					p.Q107Q													.	CHD1	137		0			c.G321A												104	99	100					5																	98239547		2203	4300	6503	SO:0001819	synonymous_variant	1105	exon3			CTGCTGCTGTTGC	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.321G>A	5.37:g.98239547C>T			62	0	0		60	0.07	4	NM_001270	2	0	0	Q17RZ3	Silent	SNP	ENST00000284049.3	37	CCDS34204.1																																																																																					0.393	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370295.1		NM_001270		T	98239547	C	T	98239547	2	4	119	1	0	0	0	0	0	0	0	1	3325	796	28	2		2	CHD1	5	98239547	Silent	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10		98239547	82675713	19	8902											
SHROOM1	134549	mdanderson.org	37	chr5	132161737	132161737	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggagaaagagctgtaGgccgagtccgcgcgcatgga	9	5	17	10	5	0	2	0	0	0	2	1	5	1	3	2	3	2	4	2	3	2	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr5:132161737G>T	ENST00000378679.3	-	4	900	c.96C>A	c.(94-96)gcC>gcA	p.A32A	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Silent_p.A32A|SHROOM1_ENST00000378676.1_Silent_p.A32A	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	32					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)			AAGAGCTGTAGGCCGAGTCCG	0.701																																					p.A32A													.	.			0			c.C96A												6	7	7					5																	132161737		2103	4223	6326	SO:0001819	synonymous_variant	134549	exon1			GCTGTAGGCCGAG	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.96C>A	5.37:g.132161737G>T			14	0	0		19	0.16	3	NM_133456	5	0	0	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	CCDS54902.1																																																																																					0.701	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000133033.1		NM_133456		T	132161737	G	T	132161737	2	4	119	1	0	0	0	0	0	0	0	1	14316	987	35	3		3	SHROOM1	5	132161737	Silent	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	33922190	132161737	48753523	20	8903											
HARS2	23438	mdanderson.org	37	chr5	140071284	140071284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctgggcttcgctgctcagCcagctcctgcgaccgccctg	3	8	12	18	3	1	0	1	0	0	0	3	1	2	0	5	1	4	4	5	1	0	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr5:140071284C>A	ENST00000230771.3	+	1	274	c.51C>A	c.(49-51)agC>agA	p.S17R	HARS_ENST00000431330.2_5'Flank|HARS2_ENST00000502303.1_Intron|HARS2_ENST00000435019.2_Missense_Mutation_p.S17R|HARS2_ENST00000432671.2_Missense_Mutation_p.S17R|HARS_ENST00000457527.2_5'Flank|HARS2_ENST00000508522.1_Missense_Mutation_p.S17R|HARS_ENST00000415192.2_5'Flank|HARS_ENST00000504156.1_5'UTR|HARS2_ENST00000448069.2_Missense_Mutation_p.S17R|HARS_ENST00000307633.3_5'Flank|HARS2_ENST00000437649.2_Missense_Mutation_p.S17R|HARS_ENST00000448240.1_5'Flank|HARS_ENST00000438307.2_5'Flank	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	17					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCTCAGCCAGCTCCTGC	0.657																																					p.S17R													.	.			0			c.C51A												8	9	8					5																	140071284		2154	4194	6348	SO:0001583	missense	23438	exon1			GCTCAGCCAGCTC	U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4817	protein-coding gene	gene with protein product	"histidine tRNA ligase 2, mitochondrial (putative)"	600783	"histidyl-tRNA synthetase-like"	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.51C>A	5.37:g.140071284C>A	ENSP00000230771:p.Ser17Arg		66	0	0		43	0.09	4	NM_012208	3	0	0	B4DDY8	Missense_Mutation	SNP	ENST00000230771.3	37	CCDS4238.1	.	.	.	.	.	.	.	.	.	.	c	14.84	2.656003	0.47467	.	.	ENSG00000112855	ENST00000230771;ENST00000509299;ENST00000503873;ENST00000435019;ENST00000437649;ENST00000432671;ENST00000508522;ENST00000448069	T;T;T;T;T;T	0.45276	1.09;0.98;1.11;0.94;0.94;0.9	5.72	4.85	0.62838	.	0.587506	0.19054	N	0.123956	T	0.24314	0.0589	N	0.08118	0	0.22710	N	0.998829	B;B;B	0.19583	0.0;0.0;0.037	B;B;B	0.17098	0.0;0.0;0.017	T	0.13548	-1.0505	10	0.27785	T	0.31	0.8277	13.0802	0.59109	0.0:0.8388:0.1612:0.0	.	17;17;17	B4DQ67;B4DDY8;P49590	.;.;SYHM_HUMAN	R	17	ENSP00000230771:S17R;ENSP00000412887:S17R;ENSP00000411708:S17R;ENSP00000415007:S17R;ENSP00000423616:S17R;ENSP00000407105:S17R	ENSP00000230771:S17R	S	+	3	2	HARS2	140051468	0.544000	0.26441	0.960000	0.40013	0.451000	0.32288	1.369000	0.34227	1.550000	0.49438	0.655000	0.94253	AGC			0.657	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251670.2		NM_012208		A	140071284	C	A	140071284	3	1	119	1	0	0	0	0	1	0	0	0	6975	738	26	2	53	2	HARS2	5	140071284	Missense_Mutation	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	7909547	140071284	40843976	21	8904											
RUFY1	80230	mdanderson.org	37	chr5	179021943	179021943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccaaccaagttatgtccaGcatgaaacaaatggaagaaa	20	6	7	8	0	0	2	0	1	0	1	1	3	1	3	3	1	4	2	3	1	8	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr5:179021943G>T	ENST00000319449.4	+	12	1502	c.1490G>T	c.(1489-1491)aGc>aTc	p.S497I	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.S389I|RUFY1_ENST00000393438.2_Missense_Mutation_p.S389I	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	497					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTATGTCCAGCATGAAACAA	0.463										HNSCC(44;0.11)																											p.S497I													.	.			0			c.G1490T												105	94	98					5																	179021943		2203	4300	6503	SO:0001583	missense	80230	exon12			TGTCCAGCATGAA	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1490G>T	5.37:g.179021943G>T	ENSP00000325594:p.Ser497Ile		72	0	0		47	0.06	3	NM_025158	29	0	0	Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.34|12.34	1.908058|1.908058	0.33721|0.33721	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000502434|ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	.|T;T;T	.|0.52526	.|0.66;0.68;0.68	5.1|5.1	0.786|0.786	0.18590|0.18590	.|.	.|0.241708	.|0.48286	.|D	.|0.000192	T|T	0.30355|0.30355	0.0762|0.0762	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.09377	.|0.004	T|T	0.05435|0.05435	-1.0885|-1.0885	5|10	.|0.37606	.|T	.|0.19	-5.9387|-5.9387	5.9382|5.9382	0.19177|0.19177	0.2871:0.3354:0.3774:0.0|0.2871:0.3354:0.3774:0.0	.|.	.|497	.|Q96T51	.|RUFY1_HUMAN	H|I	174|497;389;389;99	.|ENSP00000325594:S497I;ENSP00000390025:S389I;ENSP00000377087:S389I	.|ENSP00000325594:S497I	Q|S	+|+	3|2	2|0	RUFY1|RUFY1	178954549|178954549	0.402000|0.402000	0.25311|0.25311	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.865000|1.865000	0.39479|0.39479	0.272000|0.272000	0.22027|0.22027	0.550000|0.550000	0.68814|0.68814	CAG|AGC			0.463	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000253505.2		NM_001040451		T	179021943	G	T	179021943	3	4	119	1	0	0	0	0	1	0	0	0	13761	971	34	2	1536	2	RUFY1	5	179021943	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	38950659	179021943	1893317	22	8905											
ITPR3	3710	mdanderson.org	37	chr6	33655317	33655317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagcgcattcaagaggaGgaggccgagggtatctcttc	10	8	15	8	2	2	2	1	1	1	1	4	5	2	4	1	4	1	2	1	4	3	3			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr6:33655317G>T	ENST00000374316.5	+	47	7300	c.6240G>T	c.(6238-6240)gaG>gaT	p.E2080D	ITPR3_ENST00000605930.1_Missense_Mutation_p.E2080D			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2080					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TTCAAGAGGAGGAGGCCGAGG	0.632																																					p.E2080D													.	.			0			c.G6240T												56	53	54					6																	33655317		2203	4300	6503	SO:0001583	missense	3710	exon46			AGAGGAGGAGGCC	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6240G>T	6.37:g.33655317G>T	ENSP00000363435:p.Glu2080Asp		46	0	0		41	0.07	3	NM_002224	40	0	0	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	5.775	0.327361	0.10956	.	.	ENSG00000096433	ENST00000374316	D	0.91996	-2.95	4.94	3.16	0.36331	.	0.269270	0.37669	N	0.001996	D	0.86306	0.5901	N	0.22421	0.69	0.36689	D	0.879498	P;D	0.58970	0.788;0.984	B;D	0.68192	0.287;0.956	T	0.82713	-0.0321	10	0.19147	T	0.46	-33.1347	8.5546	0.33474	0.3084:0.0:0.6916:0.0	.	2080;1750	Q14573;Q59ES2	ITPR3_HUMAN;.	D	2080	ENSP00000363435:E2080D	ENSP00000363435:E2080D	E	+	3	2	ITPR3	33763295	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	0.974000	0.29436	0.613000	0.30089	-0.258000	0.10820	GAG			0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040204.2		NM_002224		T	33655317	G	T	33655317	3	4	119	1	0	0	0	0	1	0	0	0	7937	991	35	3	6422	3	ITPR3	6	33655317	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10		33655317	137459750	23	8906											
KLC4	89953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	43034061	43034061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtgtcccgtggtcaaggtGctacagcagctcagcagggt	8	9	14	10	1	2	0	2	0	0	0	3	0	3	0	1	3	5	4	1	3	3	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr6:43034061G>A	ENST00000394056.2	+	6	1084	c.589G>A	c.(589-591)Gct>Act	p.A197T	KLC4_ENST00000394058.1_Missense_Mutation_p.A197T|KLC4_ENST00000453940.2_Missense_Mutation_p.A120T|KLC4_ENST00000479388.1_Missense_Mutation_p.A197T|KLC4_ENST00000347162.5_Missense_Mutation_p.A197T|KLC4_ENST00000458460.2_Missense_Mutation_p.A197T|KLC4_ENST00000259708.3_Missense_Mutation_p.A215T			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	197						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TGGTCAAGGTGCTACAGCAGC	0.537																																					p.A215T													.	.			0			c.G643A												211	180	190					6																	43034061		2203	4300	6503	SO:0001583	missense	89953	exon5			CAAGGTGCTACAG	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.589G>A	6.37:g.43034061G>A	ENSP00000377620:p.Ala197Thr		95	0	0		69	0.28	19	NM_201523	12	0.58	7	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.530223	0.00951	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	2.57	0.502	0.16932	Rabaptin, GTPase-Rab5 binding (1);	0.994140	0.08162	N	0.988365	T	0.11793	0.0287	L	0.39245	1.2	0.09310	N	1	B;B;B;B	0.21071	0.051;0.0;0.0;0.0	B;B;B;B	0.17433	0.018;0.0;0.0;0.001	T	0.31861	-0.9928	10	0.32370	T	0.25	-12.0738	3.7763	0.08661	0.3767:0.0:0.4398:0.1835	.	120;215;197;197	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	T	197;120;110;175;197;215;197;197;197	ENSP00000340221:A197T;ENSP00000395806:A120T;ENSP00000419784:A110T;ENSP00000417652:A175T;ENSP00000410358:A197T;ENSP00000259708:A215T;ENSP00000418031:A197T;ENSP00000377620:A197T;ENSP00000377622:A197T	ENSP00000259708:A215T	A	+	1	0	KLC4	43142039	0.972000	0.33761	0.155000	0.22561	0.129000	0.20672	3.384000	0.52478	-0.391000	0.07763	-2.704000	0.00135	GCT			0.537	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040579.2		NM_138343		A	43034061	G	A	43034061	3	1	119	1	0	0	0	0	1	0	0	0	8351	1319	46	2	661	2	KLC4	6	43034061	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	9378744	43034061	128081006	24	8907											
HERPUD2	64224	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr7	35674032	35674033	+	Frame_Shift_Ins	INS	-	-	T																															ctaaaaggaaaccatccagcINSttggtgtctgttcagtaaaa																										TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr7:35674032_35674033insT	ENST00000396081.1	-	7	1752_1753	c.948_949insA	c.(946-951)caagctfs	p.A317fs	HERPUD2_ENST00000311350.3_Frame_Shift_Ins_p.A317fs|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	317					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AACCATCCAGCTTGGTGTCTGT	0.347																																					p.A317fs													.	HERPUD2	47		0			c.949_950insA																																									SO:0001589	frameshift_variant	64224	exon8			ATCCAGCTTGGTG	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.949dupA	7.37:g.35674034_35674034dupT	ENSP00000379390:p.Ala317fs		146	0	0		161	0.16	25	NM_022373	15	0	0	A4D1Y8|Q9H6F9	Frame_Shift_Ins	INS	ENST00000396081.1	37	CCDS5446.1																																																																																					0.347	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250584.1		NM_022373		T	35674033	-	T	35674032	7	5	119	1	0	1	1	0	0	0	0	0	7079	797	28	0	279	0	HERPUD2	7	35674032	Frame_Shift_Ins	INS	-	TCGA-XE-AAO6-01A-31D-A435-10		35674032	123464631	25	8908											
LUC7L2	100996928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	139091951	139091951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattctatgccagcttccaGttttcagcagcagaaacttc	11	12	7	11	0	2	1	1	0	1	1	4	2	3	1	2	0	5	4	2	0	3	6			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr7:139091951G>A	ENST00000354926.4	+	6	896	c.542G>A	c.(541-543)aGt>aAt	p.S181N	C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.S180N|LUC7L2_ENST00000541515.3_Missense_Mutation_p.S247N|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.S178N	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		CCAGCTTCCAGTTTTCAGCAG	0.363																																					p.S247N													.	.			0			c.G740A												80	75	76					7																	139091951		1814	4072	5886	SO:0001583	missense	100996928	exon7			CTTCCAGTTTTCA		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.542G>A	7.37:g.139091951G>A	ENSP00000347005:p.Ser181Asn		77	0	0		107	0.13	14	NM_001244584	245	0.23	56		Missense_Mutation	SNP	ENST00000354926.4	37	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833342	0.71258	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.45276	1.48;1.48;1.48;0.9	5.84	5.84	0.93424	.	0.035925	0.85682	D	0.000000	T	0.59390	0.2190	M	0.77313	2.365	0.47905	D	0.999540	B;B;B;B	0.32968	0.392;0.392;0.34;0.392	P;P;B;P	0.45276	0.475;0.475;0.343;0.475	T	0.54873	-0.8228	9	0.36615	T	0.2	-17.7467	20.1336	0.98010	0.0:0.0:1.0:0.0	.	247;178;180;181	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	N	178;247;181;181;180	ENSP00000441604:S178N;ENSP00000440222:S247N;ENSP00000347005:S181N;ENSP00000263545:S180N	ENSP00000263545:S180N	S	+	2	0	LUC7L2	138742491	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.948000	0.87774	2.767000	0.95098	0.591000	0.81541	AGT			0.363	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323618.2				A	139091951	G	A	139091951	3	1	119	1	0	0	0	0	1	0	0	0	9099	1029	36	3	564	3	LUC7L2	7	139091951	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	103417919	139091951	20046712	26	8909											
REPIN1	29803	mdanderson.org	37	chr7	150069937	150069937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcacccaccgcaagaGccacatccgggacggcgcct	9	4	9	19	4	2	1	2	0	0	1	3	2	3	2	6	2	1	1	6	2	1	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr7:150069937G>T	ENST00000425389.2	+	1	1685	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.S536I|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Missense_Mutation_p.S593I|REPIN1_ENST00000444957.1_Missense_Mutation_p.S536I|REPIN1_ENST00000540729.1_Missense_Mutation_p.S536I	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	536					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACCGCAAGAGCCACATCCGG	0.647																																					p.S593I													.	.			0			c.G1778T												43	50	47					7																	150069937		2196	4297	6493	SO:0001583	missense	29803	exon3			GCAAGAGCCACAT	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1607G>T	7.37:g.150069937G>T	ENSP00000388287:p.Ser536Ile		41	0	0		46	0.07	3	NM_001099695	82	0	0	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	3.442	-0.113806	0.06881	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	3.95	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	N	0.16790	0.44	0.80722	D	1	B;D	0.53462	0.091;0.96	B;P	0.49192	0.021;0.602	T	0.24621	-1.0155	9	0.02654	T	1	-23.5328	7.3806	0.26854	0.1168:0.0:0.8832:0.0	.	593;536	C9J3L7;Q9BWE0	.;REPI1_HUMAN	I	536;536;536;593;536	ENSP00000445016:S536I;ENSP00000380451:S536I;ENSP00000407714:S536I;ENSP00000417291:S593I;ENSP00000388287:S536I	ENSP00000380451:S536I	S	+	2	0	REPIN1	149700870	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.017000	0.13399	2.059000	0.61396	0.563000	0.77884	AGC			0.647	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000376940.1		NM_014374		T	150069937	G	T	150069937	3	4	119	1	0	0	0	0	1	0	0	0	13250	971	34	2	1784	2	REPIN1	7	150069937	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	10977986	150069937	9068726	27	8910											
TMEM176A	55365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150501507	150501507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggattctgctgcttctgGcatctctgacccctctgtgg	3	15	10	13	0	5	1	0	1	5	0	6	2	5	2	2	3	2	3	2	3	0	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr7:150501507G>A	ENST00000484928.1	+	6	1194	c.613G>A	c.(613-615)Gca>Aca	p.A205T	TMEM176A_ENST00000004103.3_Missense_Mutation_p.A205T|TMEM176A_ENST00000461345.1_Missense_Mutation_p.A146T			Q96HP8	T176A_HUMAN	transmembrane protein 176A	205					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGCTTCTGGCATCTCTGAC	0.562																																					p.A205T													.	.			0			c.G613A												170	151	157					7																	150501507		2203	4300	6503	SO:0001583	missense	55365	exon6			CTTCTGGCATCTC	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.613G>A	7.37:g.150501507G>A	ENSP00000417626:p.Ala205Thr		102	0	0		94	0.18	17	NM_018487	120	0.01	1	D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802161	0.31869	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536	T;T;T;T	0.02345	4.33;4.33;4.33;4.33	4.79	3.84	0.44239	.	0.719183	0.13451	N	0.386930	T	0.06872	0.0175	L	0.57536	1.79	0.19575	N	0.999963	P	0.52316	0.952	P	0.51266	0.664	T	0.26121	-1.0112	10	0.52906	T	0.07	-6.1259	8.2357	0.31625	0.125:0.0:0.875:0.0	.	205	Q96HP8	T176A_HUMAN	T	205;205;146;157	ENSP00000417626:A205T;ENSP00000004103:A205T;ENSP00000420818:A146T;ENSP00000417834:A157T	ENSP00000004103:A205T	A	+	1	0	TMEM176A	150132440	0.391000	0.25221	0.808000	0.32385	0.154000	0.21943	1.186000	0.32078	1.019000	0.39547	0.655000	0.94253	GCA			0.562	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350222.1		NM_018487		A	150501507	G	A	150501507	3	1	119	1	0	0	0	0	1	0	0	0	16115	1203	42	2	631	2	TMEM176A	7	150501507	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	431570	150501507	8637156	28	8911											
PLEC	5339	mdanderson.org	37	chr8	144992766	144992766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcctcatccacagtcagCcgctcccccttcaccgggtc	7	7	7	20	2	3	0	3	0	0	0	6	0	5	0	6	1	2	1	6	1	0	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr8:144992766C>T	ENST00000322810.4	-	32	11803	c.11634G>A	c.(11632-11634)cgG>cgA	p.R3878R	PLEC_ENST00000527096.1_Silent_p.R3764R|PLEC_ENST00000354589.3_Silent_p.R3741R|PLEC_ENST00000354958.2_Silent_p.R3719R|PLEC_ENST00000357649.2_Silent_p.R3745R|PLEC_ENST00000345136.3_Silent_p.R3741R|PLEC_ENST00000436759.2_Silent_p.R3768R|PLEC_ENST00000356346.3_Silent_p.R3727R|PLEC_ENST00000398774.2_Silent_p.R3709R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3878	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						CCACAGTCAGCCGCTCCCCCT	0.697																																					p.R3878R													.	.			0			c.G11634A												15	19	18					8																	144992766		1956	4068	6024	SO:0001819	synonymous_variant	5339	exon32			AGTCAGCCGCTCC	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.11634G>A	8.37:g.144992766C>T			36	0	0		52	0.06	3	NM_201380	64	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																					0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		T	144992766	C	T	144992766	2	4	119	1	0	0	0	0	0	0	0	1	12069	726	26	2		2	PLEC	8	144992766	Silent	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10		144992766	1371256	29	8912											
FOLH1	2346	bcgsc.ca	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				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)	GCCTATAAGCATATTCTGAAA	0.343																																					p.Y277Y													.	FOLH1	141		0			c.T831C												61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346	exon7			ATAAGCATATTCT	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.831T>C	11.37:g.49204790A>G			216	0.0092592593	2		183	0.05	10	NM_004476	0		0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																					0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390896.1		NM_004476		G	49204790	A	G	49204790	2	3	119	1	0	0	0	0	0	0	0	1	5992	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-XE-AAO6-01A-31D-A435-10		49204790	85801726	30	8913											
RPS6KA4	8986	bcgsc.ca	37	chr11	64136183	64136183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccgtcccccaggctggagGcgaacacgcagcgcgaagtg	8	4	14	15	5	0	0	0	0	0	0	2	3	2	1	3	3	2	2	3	3	2	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr11:64136183G>T	ENST00000334205.4	+	12	1407	c.1342G>T	c.(1342-1344)Gcg>Tcg	p.A448S	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.A441S|RPS6KA4_ENST00000294261.4_Intron|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	448	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CAGGCTGGAGGCGAACACGCA	0.706																																					p.A448S													.	RPS6KA4	85		0			c.G1342T												22	21	21					11																	64136183		2179	4285	6464	SO:0001583	missense	8986	exon12			CTGGAGGCGAACA	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1342G>T	11.37:g.64136183G>T	ENSP00000333896:p.Ala448Ser		56	0	0		44	0.09	4	NM_003942	16	0	0	A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.451623	0.26074	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000530504	T;T;T	0.64085	-0.08;-0.08;-0.08	3.97	2.02	0.26589	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.378271	0.28067	N	0.016729	T	0.35799	0.0944	N	0.13140	0.3	0.80722	D	1	B;B;B	0.31413	0.322;0.025;0.011	B;B;B	0.28139	0.086;0.038;0.037	T	0.08932	-1.0698	10	0.10111	T	0.7	.	8.1651	0.31222	0.2117:0.0:0.7883:0.0	.	441;448;442	E9PJN1;O75676;O75676-2	.;KS6A4_HUMAN;.	S	441;448;426	ENSP00000435580:A441S;ENSP00000333896:A448S;ENSP00000432945:A426S	ENSP00000333896:A448S	A	+	1	0	RPS6KA4	63892759	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.609000	0.61148	0.889000	0.36185	0.455000	0.32223	GCG			0.706	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106246.2		NM_003942		T	64136183	G	T	64136183	3	4	119	1	0	0	0	0	1	0	0	0	13676	1203	42	2	1388	2	RPS6KA4	11	64136183	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	14931393	64136183	70870333	31	8914											
ADRBK1	156	mdanderson.org	37	chr11	67049967	67049967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggcctacgacagcagtGccgactggttctctctgggg	5	9	15	12	3	2	0	0	0	2	0	3	2	2	0	2	4	3	2	2	4	1	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr11:67049967G>T	ENST00000308595.5	+	13	1404	c.1114G>T	c.(1114-1116)Gcc>Tcc	p.A372S	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGACAGCAGTGCCGACTGGTT	0.647																																					p.A372S													.	.			0			c.G1114T												92	90	91					11																	67049967		2200	4295	6495	SO:0001583	missense	156	exon13			AGCAGTGCCGACT	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1114G>T	11.37:g.67049967G>T	ENSP00000312262:p.Ala372Ser		83	0	0		57	0.05	3	NM_001619	84	0	0	B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207098	0.58343	.	.	ENSG00000173020	ENST00000308595	T	0.21932	1.98	5.7	4.8	0.61643	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	0.000011	T	0.28764	0.0713	N	0.12637	0.245	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.25606	-1.0127	10	0.66056	D	0.02	-11.5913	14.6579	0.68847	0.0696:0.0:0.9304:0.0	.	372	P25098	ARBK1_HUMAN	S	372	ENSP00000312262:A372S	ENSP00000312262:A372S	A	+	1	0	ADRBK1	66806543	1.000000	0.71417	0.096000	0.21009	0.086000	0.17979	7.641000	0.83368	1.419000	0.47118	-0.136000	0.14681	GCC			0.647	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393153.1		NM_001619		T	67049967	G	T	67049967	3	4	119	1	0	0	0	0	1	0	0	0	343	1319	46	2	1164	2	ADRBK1	11	67049967	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	2913784	67049967	67956549	32	8915											
SSH3	54961	mdanderson.org	37	chr11	67074850	67074850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcctgcaggggcttcaGcgtgacgtctggtgggcaaa	6	9	16	10	2	3	1	1	1	2	0	4	1	3	1	1	5	2	3	1	5	1	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr11:67074850G>T	ENST00000308127.4	+	6	723	c.545G>T	c.(544-546)aGc>aTc	p.S182I	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.S182I|SSH3_ENST00000376757.5_Missense_Mutation_p.S182I	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	182					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)			AGGGGCTTCAGCGTGACGTCT	0.602																																					p.S182I													.	.			0			c.G545T												52	47	49					11																	67074850		2200	4295	6495	SO:0001583	missense	54961	exon6			GCTTCAGCGTGAC	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.545G>T	11.37:g.67074850G>T	ENSP00000312081:p.Ser182Ile		56	0	0		47	0.06	3	NM_017857	2	0	0	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	8.767	0.924979	0.18056	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.52983	0.64;0.64;0.64	4.65	1.55	0.23275	.	0.254272	0.29028	N	0.013370	T	0.42314	0.1197	M	0.75085	2.285	0.35343	D	0.786686	B;B	0.12630	0.006;0.003	B;B	0.12837	0.008;0.008	T	0.52003	-0.8633	10	0.62326	D	0.03	-11.6813	4.9324	0.13923	0.0853:0.148:0.6142:0.1525	.	36;182	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	I	182	ENSP00000312081:S182I;ENSP00000310055:S182I;ENSP00000365948:S182I	ENSP00000312081:S182I	S	+	2	0	SSH3	66831426	0.997000	0.39634	0.999000	0.59377	0.258000	0.26162	2.417000	0.44653	1.091000	0.41335	-0.475000	0.04921	AGC			0.602	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393167.1		NM_018276		T	67074850	G	T	67074850	3	4	119	1	0	0	0	0	1	0	0	0	15209	971	34	2	567	2	SSH3	11	67074850	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	24883	67074850	67931666	33	8916											
LRP5	4041	mdanderson.org	37	chr11	68174054	68174054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcttcttcacaccccacGcaacccggtgtggctgcccc	5	9	9	18	2	2	0	1	0	1	0	2	0	2	0	5	2	3	3	5	2	1	2	rs147792724		TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr11:68174054G>A	ENST00000294304.7	+	9	1970	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	622	EGF-like 2.				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						CACACCCCACGCAACCCGGTG	0.607																																					p.A622T													.	.			0			c.G1864A												72	64	67					11																	68174054		2200	4294	6494	SO:0001583	missense	4041	exon9			CCCCACGCAACCC	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.1864G>A	11.37:g.68174054G>A	ENSP00000294304:p.Ala622Thr		84	0	0		50	0.06	3	NM_002335	2	0	0	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723367	0.48728	.	.	ENSG00000162337	ENST00000294304	D	0.96136	-3.92	4.11	3.19	0.36642	Epidermal growth factor-like (1);	0.303979	0.22354	U	0.061162	D	0.86171	0.5869	N	0.05414	-0.055	0.30384	N	0.781709	P;P	0.39883	0.693;0.693	B;B	0.26517	0.07;0.07	D	0.83599	0.0127	10	0.36615	T	0.2	.	13.6396	0.62241	0.0:0.0:0.8441:0.1559	.	622;622	Q9UES7;O75197	.;LRP5_HUMAN	T	622	ENSP00000294304:A622T	ENSP00000294304:A622T	A	+	1	0	LRP5	67930630	1.000000	0.71417	0.384000	0.26145	0.432000	0.31715	7.500000	0.81588	1.086000	0.41228	-0.277000	0.10078	GCA			0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395088.1		NM_002335		A	68174054	G	A	68174054	3	1	119	1	0	0	0	0	1	0	0	0	8976	1087	38	1	1898	1	LRP5	11	68174054	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	1099204	68174054	66832462	34	8917											
SIAE	54414	mdanderson.org	37	chr11	124518072	124518072	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcgtatggaatggacCtgaaatcatatgatgcacaa	16	9	9	7	1	1	3	1	2	0	1	2	5	1	5	1	2	1	2	1	2	6	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr11:124518072C>A	ENST00000263593.3	-	6	895		c.e6-1		SIAE_ENST00000545756.1_Splice_Site			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase						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)		TGGAATGGACCTGAAATCATA	0.438																																					.													.	.			0			c.618-1G>T												150	128	135					11																	124518072		2201	4299	6500	SO:0001630	splice_region_variant	54414	exon9			ATGGACCTGAAAT	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.723-1G>T	11.37:g.124518072C>A			72	0	0		44	0.07	3	NM_001199922	2	0	0	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Splice_Site	SNP	ENST00000263593.3	37	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018804	0.54576	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5	0.84254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIAE	124023282	0.278000	0.24230	0.568000	0.28447	0.277000	0.26821	2.236000	0.43052	2.503000	0.84419	0.655000	0.94253	.			0.438	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387070.1		NM_170601	Intron	A	124518072	C	A	124518072	5	1	119	1	0	0	0	0	0	0	1	0	14321	695	24	3	869	3	SIAE	11	124518072	Splice_Site	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	56344018	124518072	10488444	35	8918											
CACNA1C	775	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	2786957	2786957	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgggccatctctggagAtctcaccgctgaggaggagc	8	6	14	13	3	2	2	1	1	2	1	4	6	2	4	3	4	1	1	3	4	0	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr12:2786957A>C	ENST00000347598.4	+	43	5159	c.5159A>C	c.(5158-5160)gAt>gCt	p.D1720A	CACNA1C_ENST00000335762.5_Missense_Mutation_p.D1697A|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D1713A|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D1672A|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D1672A|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D1672A|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D1672A|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D1691A|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D1680A|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D1672A|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D1672A|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D1678A|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D1672A|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D1672A|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D1689A|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D1692A|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D1672A|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D1691A|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D1700A|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D1672A|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D1680A|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D1691A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1720					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)	ATCTCTGGAGATCTCACCGCT	0.602																																					p.D1720A													.	CACNA1C	1023		0			c.A5159C												52	60	57					12																	2786957		2135	4245	6380	SO:0001583	missense	775	exon43			CTGGAGATCTCAC	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.5159A>C	12.37:g.2786957A>C	ENSP00000266376:p.Asp1720Ala		182	0.0054945055	1		322	0.11	36	NM_199460	9	0	0	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	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878273	0.51801	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97731	-4.5;-4.47;-4.45;-4.49;-4.44;-4.41;-4.3;-4.41;-4.47;-4.4;-4.41;-4.47;-4.5;-4.39;-4.36;-4.5;-4.39;-4.45;-4.41;-4.42;-4.39;-4.51	4.6	3.46	0.39613	.	0.529132	0.20529	N	0.090541	D	0.98482	0.9494	M	0.85462	2.755	0.80722	D	1	P;P;P;D;P;P;P;P;P;B;P;P;P;P;P;P;D;D;P;B;D;P;P;P;P	0.71674	0.855;0.837;0.837;0.967;0.743;0.889;0.867;0.889;0.911;0.443;0.889;0.837;0.859;0.886;0.748;0.819;0.998;0.991;0.889;0.389;0.997;0.889;0.889;0.867;0.837	P;P;P;P;P;P;P;P;P;P;P;P;B;P;B;P;D;D;P;B;D;P;P;P;P	0.80764	0.616;0.547;0.558;0.858;0.547;0.731;0.637;0.731;0.786;0.598;0.731;0.558;0.406;0.782;0.355;0.611;0.994;0.954;0.731;0.343;0.942;0.731;0.731;0.637;0.558	D	0.98333	1.0534	10	0.72032	D	0.01	.	10.1042	0.42524	0.9203:0.0:0.0797:0.0	.	363;1713;1669;1720;1672;1691;1672;1689;1700;1672;1692;1672;1632;1720;1672;1672;1672;1680;1678;1680;1661;1691;1691;1672;1672	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	A	1697;1672;1672;1700;1672;1691;1691;1680;1672;1720;1692;1672;1713;1689;1672;1678;1691;1672;1672;1672;1672;1680;1502	ENSP00000336982:D1697A;ENSP00000382563:D1672A;ENSP00000382552:D1672A;ENSP00000382547:D1700A;ENSP00000382506:D1672A;ENSP00000382530:D1691A;ENSP00000382546:D1691A;ENSP00000382500:D1680A;ENSP00000382549:D1672A;ENSP00000266376:D1720A;ENSP00000382515:D1692A;ENSP00000382510:D1672A;ENSP00000341092:D1713A;ENSP00000382537:D1689A;ENSP00000329877:D1672A;ENSP00000382557:D1678A;ENSP00000385724:D1691A;ENSP00000382512:D1672A;ENSP00000382542:D1672A;ENSP00000382526:D1672A;ENSP00000385896:D1672A;ENSP00000382504:D1680A	ENSP00000323129:D1502A	D	+	2	0	CACNA1C	2657218	1.000000	0.71417	0.749000	0.31150	0.214000	0.24535	7.243000	0.78219	0.800000	0.34041	0.260000	0.18958	GAT			0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317035.1		NM_000719		C	2786957	A	C	2786957	3	2	119	1	0	0	0	0	1	0	0	0	2542	333	12	4	5560	4	CACNA1C	12	2786957	Missense_Mutation	SNP	A	TCGA-XE-AAO6-01A-31D-A435-10		2786957	131064938	36	8919											
PXN	5829	mdanderson.org	37	chr12	120659500	120659500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgagatgcgtgtctgctGttgggtggaggtgacgcgct	4	10	19	8	4	1	2	0	1	1	1	1	4	1	3	1	4	2	3	1	4	0	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr12:120659500G>T	ENST00000228307.7	-	6	898	c.757C>A	c.(757-759)Cag>Aag	p.Q253K	PXN_ENST00000424649.2_Missense_Mutation_p.Q253K|PXN_ENST00000536957.1_Missense_Mutation_p.Q251K|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000458477.2_Missense_Mutation_p.Q120K|PXN_ENST00000267257.7_Missense_Mutation_p.Q253K|PXN_ENST00000397506.3_5'Flank	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	253					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTGTCTGCTGTTGGGTGGAG	0.637																																					p.Q253K													.	.			0			c.C757A												72	97	88					12																	120659500		2182	4270	6452	SO:0001583	missense	5829	exon6			TCTGCTGTTGGGT	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.757C>A	12.37:g.120659500G>T	ENSP00000228307:p.Gln253Lys		39	0	0		36	0.08	3	NM_001080855	21	0	0	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805026	0.70682	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000541856	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.64997	1.995	0.80722	D	1	B;B;B	0.33807	0.016;0.426;0.122	B;B;B	0.38985	0.009;0.287;0.11	T	0.46735	-0.9170	10	0.45353	T	0.12	-11.4069	19.5972	0.95546	0.0:0.0:1.0:0.0	.	253;253;253	P49023-2;P49023-3;P49023	.;.;PAXI_HUMAN	K	120;253;253;251;253;12	ENSP00000395536:Q120K;ENSP00000228307:Q253K;ENSP00000391283:Q253K;ENSP00000443887:Q251K;ENSP00000267257:Q253K	ENSP00000228307:Q253K	Q	-	1	0	PXN	119143883	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.197000	0.77814	2.629000	0.89072	0.591000	0.81541	CAG			0.637	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000402679.4		NM_002859		T	120659500	G	T	120659500	3	4	119	1	0	0	0	0	1	0	0	0	12875	1386	48	3	1046	3	PXN	12	120659500	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	117872543	120659500	13192395	37	8920											
SCEL	8796	mdanderson.org	37	chr13	78167651	78167651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcattgtttgaaggaGtcaggatcttgataacatcg	11	16	9	5	1	3	2	2	2	1	0	4	4	3	4	0	2	1	1	0	2	2	6			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr13:78167651G>T	ENST00000349847.3	+	12	779	c.695G>T	c.(694-696)aGt>aTt	p.S232I	SCEL_ENST00000377246.3_Intron|SCEL_ENST00000535157.1_Missense_Mutation_p.S210I	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	232					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)		GTTTGAAGGAGTCAGGATCTT	0.363																																					p.S232I													.	.			0			c.G695T												139	127	131					13																	78167651		2203	4300	6503	SO:0001583	missense	8796	exon12			GAAGGAGTCAGGA	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.695G>T	13.37:g.78167651G>T	ENSP00000302579:p.Ser232Ile		86	0	0		58	0.05	3	NM_144777	0		0	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698178	0.48307	.	.	ENSG00000136155	ENST00000535157;ENST00000349847	T;T	0.24908	1.83;1.83	5.36	1.43	0.22495	.	0.297094	0.29515	N	0.011925	T	0.23451	0.0567	L	0.57536	1.79	0.23254	N	0.998036	P;B	0.44380	0.834;0.23	B;B	0.40285	0.325;0.165	T	0.10989	-1.0606	10	0.62326	D	0.03	-5.1849	8.2896	0.31950	0.0892:0.4653:0.4455:0.0	.	210;232	F5H651;O95171	.;SCEL_HUMAN	I	210;232	ENSP00000437895:S210I;ENSP00000302579:S232I	ENSP00000302579:S232I	S	+	2	0	SCEL	77065652	0.904000	0.30761	0.977000	0.42913	0.970000	0.65996	0.046000	0.14035	0.268000	0.21939	0.655000	0.94253	AGT			0.363	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045339.2		NM_144777		T	78167651	G	T	78167651	3	4	119	1	0	0	0	0	1	0	0	0	13911	1029	36	3	737	3	SCEL	13	78167651	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10		78167651	37002227	38	8921											
RASL12	51285	broad.mit.edu	37	chr15	65360091	65360091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttgccagccccgcggCgccccaggatggccaggttg	6	5	14	16	3	0	1	0	0	0	1	0	2	0	2	6	4	2	1	6	4	0	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr15:65360091C>A	ENST00000220062.4	-	1	359	c.83G>T	c.(82-84)cGc>cTc	p.R28L	RASL12_ENST00000421977.3_Missense_Mutation_p.R28L|RASL12_ENST00000434605.2_Intron	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	28					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AGCCCCGCGGCGCCCCAGGAT	0.731																																					p.R28L													.	RASL12	32		0			c.G83T																																									SO:0001583	missense	51285	exon1			CCGCGGCGCCCCA	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"Ras family member Ris"					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.83G>T	15.37:g.65360091C>A	ENSP00000220062:p.Arg28Leu		39	0	0		40	0.1	4	NM_016563	0		0	B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816062	0.50527	.	.	ENSG00000103710	ENST00000220062;ENST00000421977	T;T	0.79033	-1.05;-1.23	4.45	4.45	0.53987	Small GTP-binding protein domain (1);	0.444646	0.22622	N	0.057689	T	0.61060	0.2317	N	0.11560	0.145	0.80722	D	1	B;B	0.21381	0.055;0.001	B;B	0.15484	0.013;0.001	T	0.58261	-0.7667	10	0.33141	T	0.24	.	15.4278	0.75069	0.0:1.0:0.0:0.0	.	28;28	B4DJW2;Q9NYN1	.;RASLC_HUMAN	L	28	ENSP00000220062:R28L;ENSP00000390028:R28L	ENSP00000220062:R28L	R	-	2	0	RASL12	63147144	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.937000	0.40193	2.319000	0.78375	0.555000	0.69702	CGC			0.731	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256782.2		NM_016563		A	65360091	C	A	65360091	3	1	119	1	0	0	0	0	1	0	0	0	13106	768	27	1	737	1	RASL12	15	65360091	Missense_Mutation	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10		65360091	37171301	39	8922											
MAPK8IP3	23162	mdanderson.org	37	chr16	1817699	1817699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacgcaccagcatctacaGgacgtggacattgagcccta	12	6	9	14	2	1	1	0	1	1	0	1	3	1	3	2	2	3	2	2	2	2	3			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr16:1817699G>T	ENST00000250894.4	+	27	3526	c.3369G>T	c.(3367-3369)caG>caT	p.Q1123H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.Q1117H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1123					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCATCTACAGGACGTGGACA	0.642																																					p.Q1123H													.	.			0			c.G3369T												31	35	34					16																	1817699		2143	4277	6420	SO:0001583	missense	23162	exon27			TCTACAGGACGTG	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3369G>T	16.37:g.1817699G>T	ENSP00000250894:p.Gln1123His		100	0	0		50	0.06	3	NM_015133	57	0	0	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631698	0.67015	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.32272	1.46;1.46	3.52	2.56	0.30785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.87578	0.998;0.998;0.993	T	0.66019	-0.6027	10	0.87932	D	0	-21.3828	10.4544	0.44542	0.0984:0.0:0.9016:0.0	.	1124;1117;1123	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	H	1123;1117	ENSP00000250894:Q1123H;ENSP00000348290:Q1117H	ENSP00000250894:Q1123H	Q	+	3	2	MAPK8IP3	1757700	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.981000	0.63819	0.697000	0.31718	-0.258000	0.10820	CAG			0.642	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250508.2		NM_001040439		T	1817699	G	T	1817699	3	4	119	1	0	0	0	0	1	0	0	0	9302	991	35	3	3491	3	MAPK8IP3	16	1817699	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10		1817699	88537054	40	8923											
SLC9A3R2	9351	mdanderson.org	37	chr16	2079697	2079697	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaccgaggagatggcccagCgagggctcccacccgcccac	8	3	13	17	3	0	1	0	0	0	1	1	4	1	1	5	3	2	2	5	3	1	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr16:2079697C>T	ENST00000424542.2	+	2	466	c.328C>T	c.(328-330)Cga>Tga	p.R110*	SLC9A3R2_ENST00000563587.1_Nonsense_Mutation_p.R4*|SLC9A3R2_ENST00000432365.2_Nonsense_Mutation_p.R110*	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	110					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GATGGCCCAGCGAGGGCTCCC	0.682																																					p.R110X	Ovarian(69;105 1552 17724 23473)												.	.			0			c.C328T												20	29	26					16																	2079697		1960	4082	6042	SO:0001587	stop_gained	9351	exon2			GCCCAGCGAGGGC	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.328C>T	16.37:g.2079697C>T	ENSP00000408005:p.Arg110*		73	0	0		36	0.08	3	NM_004785	8	0	0	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Nonsense_Mutation	SNP	ENST00000424542.2	37	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595730	0.66219	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	.	.	.	4.86	2.78	0.32641	.	1.211850	0.05801	N	0.612125	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-15.1188	7.573	0.27920	0.3567:0.4903:0.1531:0.0	.	.	.	.	X	110	.	ENSP00000408005:R110X	R	+	1	2	SLC9A3R2	2019698	0.088000	0.21588	0.821000	0.32701	0.866000	0.49608	1.097000	0.30988	0.400000	0.25396	0.561000	0.74099	CGA			0.682	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434448.1				T	2079697	C	T	2079697	4	4	119	1	0	0	0	0	0	1	0	0	14738	760	27	1	334	1	SLC9A3R2	16	2079697	Nonsense_Mutation	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	261998	2079697	88275056	41	8924											
GSPT1	2935	broad.mit.edu	37	chr16	12009530	12009531	+	Intron	INS	-	-	CCG																															tgctgctgccgctgctgctcINSccgccgccgccgccgccgcc																								rs71408216|rs374901734		TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr16:12009530_12009531insCCG	ENST00000420576.2	-	1	41				GSPT1_ENST00000439887.2_In_Frame_Ins_p.16_16G>GG|AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000434724.2_In_Frame_Ins_p.16_16G>GG	NM_001130007.1	NP_001123479.1	P15170	ERF3A_HUMAN	G1 to S phase transition 1						G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772																																					p.G16delinsGG													.	GSPT1	71		0			c.48_49insCGG																																									SO:0001627	intron_variant	2935	exon1			GCTGCTCCCGCCG	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000420576.2:c.61+367->CGG	16.37:g.12009537_12009539dupCCG			7	0	0		6	0.33	2	NM_001130006	0		0	J3KQG6|Q96GF2	In_Frame_Ins	INS	ENST00000420576.2	37	CCDS45414.1																																																																																					0.772	GSPT1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000421514.1		NM_002094		CCG	12009531	-	CCG	12009530	6	5	119	0	1	1	1	0	0	0	0	0	6841	842	30	0		0	GSPT1	16	12009530	Intron	INS	-	TCGA-XE-AAO6-01A-31D-A435-10	9929833	12009530	78345223	42	8925											
USP31	57478	mdanderson.org	37	chr16	23160065	23160065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgcgcgccgcggcccGcaggctgctccgggtcaggc	2	4	17	18	6	1	0	1	0	0	0	2	0	2	0	4	5	2	3	4	5	0	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr16:23160065G>A	ENST00000219689.7	-	1	526	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	129	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCCGCGGCCCGCAGGCTGCTC	0.746																																					p.A176V													.	.			0			c.C527T												3	4	4					16																	23160065		1783	3683	5466	SO:0001583	missense	57478	exon1			CGGCCCGCAGGCT	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.527C>T	16.37:g.23160065G>A	ENSP00000219689:p.Ala176Val		30	0	0		25	0.08	2	NM_020718	0		0	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312310	0.05422	.	.	ENSG00000103404	ENST00000219689	T	0.30448	1.53	3.45	-1.08	0.09936	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.315100	0.05262	N	0.515859	T	0.12860	0.0312	N	0.04090	-0.28	0.09310	N	0.999995	B	0.11235	0.004	B	0.06405	0.002	T	0.18871	-1.0323	10	0.40728	T	0.16	-0.5263	1.7995	0.03068	0.1908:0.159:0.4873:0.163	.	176	Q70CQ4	UBP31_HUMAN	V	176	ENSP00000219689:A176V	ENSP00000219689:A176V	A	-	2	0	USP31	23067566	1.000000	0.71417	0.001000	0.08648	0.079000	0.17450	1.747000	0.38298	-0.435000	0.07264	0.411000	0.27672	GCG			0.746	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211607.1		NM_020718		A	23160065	G	A	23160065	3	1	119	1	0	0	0	0	1	0	0	0	17086	1087	38	1	3595	1	USP31	16	23160065	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	11150535	23160065	67194688	43	8926											
ZDHHC1	29800	mdanderson.org	37	chr16	67428910	67428910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaggcgctcacccgacGccggatccgaggtctcagac	8	4	15	14	5	2	2	2	0	1	2	4	6	3	3	3	4	0	1	3	4	0	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr16:67428910G>T	ENST00000348579.2	-	10	1566	c.1225C>A	c.(1225-1227)Cgt>Agt	p.R409S	ZDHHC1_ENST00000566075.1_5'UTR|TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000562206.1_5'Flank|TPPP3_ENST00000393957.2_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	409					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CTCACCCGACGCCGGATCCGA	0.632																																					p.R409S													.	.			0			c.C1225A												18	23	21					16																	67428910		2194	4299	6493	SO:0001583	missense	29800	exon10			CCCGACGCCGGAT	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1225C>A	16.37:g.67428910G>T	ENSP00000340299:p.Arg409Ser		76	0	0		45	0.07	3	NM_013304	9	0	0	O15461	Missense_Mutation	SNP	ENST00000348579.2	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679777	0.29783	.	.	ENSG00000159714	ENST00000348579	T	0.43688	0.94	3.32	0.383	0.16239	.	3.063890	0.02275	U	0.068806	T	0.27900	0.0687	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16305	-1.0407	10	0.25751	T	0.34	.	8.4123	0.32651	0.0:0.0:0.602:0.398	.	409	Q8WTX9	ZDHC1_HUMAN	S	409	ENSP00000340299:R409S	ENSP00000340299:R409S	R	-	1	0	ZDHHC1	65986411	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.221000	0.17680	0.053000	0.16036	0.313000	0.20887	CGT			0.632	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268845.1		NM_013304		T	67428910	G	T	67428910	3	4	119	1	0	0	0	0	1	0	0	0	17623	1087	38	1	240	1	ZDHHC1	16	67428910	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	44268845	67428910	22925843	44	8927											
DUS2L	54920	mdanderson.org	37	chr16	68112813	68112813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagagctcaggagctagCacaacctggggatctgtgca	10	6	12	13	0	2	1	1	0	1	1	2	3	2	3	3	3	5	4	3	3	2	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr16:68112813C>T	ENST00000565263.1	+	17	1900	c.1406C>T	c.(1405-1407)gCa>gTa	p.A469V	RP11-67A1.2_ENST00000548144.1_RNA|DUS2_ENST00000432752.1_Missense_Mutation_p.A434V|DUS2_ENST00000358896.6_Missense_Mutation_p.A469V	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	469					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)										CAGGAGCTAGCACAACCTGGG	0.607																																					p.A469V													.	.			0			c.C1406T												67	71	70					16																	68112813		2198	4300	6498	SO:0001583	missense	54920	exon16			AGCTAGCACAACC		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.1406C>T	16.37:g.68112813C>T	ENSP00000455229:p.Ala469Val		53	0.0188679245	1		40	0.08	3	NM_001271762	73	0	0	A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762954	0.31228	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.32272	1.47;1.46	5.02	1.98	0.26296	.	0.840801	0.10951	N	0.616126	T	0.18341	0.0440	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.14578	0.011;0.011	T	0.25433	-1.0132	10	0.54805	T	0.06	.	3.2452	0.06794	0.3145:0.4481:0.1525:0.0849	.	434;469	E7EUN9;Q9NX74	.;DUS2L_HUMAN	V	469;434	ENSP00000351769:A469V;ENSP00000409498:A434V	ENSP00000351769:A469V	A	+	2	0	DUS2L	66670314	0.000000	0.05858	0.011000	0.14972	0.777000	0.43975	-0.088000	0.11198	0.292000	0.22492	0.655000	0.94253	GCA			0.607	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268869.2		NM_017803		T	68112813	C	T	68112813	3	4	119	1	0	0	0	0	1	0	0	0	4811	710	25	2	1464	2	DUS2L	16	68112813	Missense_Mutation	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	683903	68112813	22241940	45	8928											
CHST4	10164	mdanderson.org	37	chr16	71571131	71571131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcgcttcttcaaccTgcagtccctctacccgctgc	5	10	10	16	2	3	0	1	0	2	0	4	1	4	1	3	2	5	3	3	2	2	3			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr16:71571131T>C	ENST00000338482.5	+	3	894	c.551T>C	c.(550-552)cTg>cCg	p.L184P	CHST4_ENST00000572450.1_Missense_Mutation_p.L184P|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.L184P			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	184					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCTTCAACCTGCAGTCCCTC	0.627																																					p.L184P													.	.			0			c.T551C												84	84	84					16																	71571131		2198	4300	6498	SO:0001583	missense	10164	exon2			TCAACCTGCAGTC	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.551T>C	16.37:g.71571131T>C	ENSP00000341206:p.Leu184Pro		73	0	0		51	0.06	3	NM_001166395	0		0	Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987484	0.74589	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.84442	-1.85;-1.85	5.65	5.65	0.86999	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000003	D	0.93848	0.8032	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95056	0.8191	10	0.87932	D	0	-12.3149	13.8294	0.63370	0.0:0.0:0.0:1.0	.	184	Q8NCG5	CHST4_HUMAN	P	184	ENSP00000341206:L184P;ENSP00000441204:L184P	ENSP00000341206:L184P	L	+	2	0	CHST4	70128632	1.000000	0.71417	0.999000	0.59377	0.725000	0.41563	8.040000	0.89188	2.149000	0.67028	0.533000	0.62120	CTG			0.627	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268992.4		NM_005769		C	71571131	T	C	71571131	3	2	119	1	0	0	0	0	1	0	0	0	3408	1580	55	4	553	4	CHST4	16	71571131	Missense_Mutation	SNP	T	TCGA-XE-AAO6-01A-31D-A435-10	3458318	71571131	18783622	46	8929											
PFAS	5198	broad.mit.edu	37	chr17	8167575	8167576	+	Frame_Shift_Ins	INS	-	-	A																															tcctgtcagaagaaatggccINSagggggatgcccccccgaca																										TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr17:8167575_8167576insA	ENST00000314666.6	+	16	1970_1971	c.1837_1838insA	c.(1837-1839)cagfs	p.Q613fs	PFAS_ENST00000545834.1_Frame_Shift_Ins_p.Q189fs|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	613					'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)	AAGAAATGGCCAGGGGGATGCC	0.604																																					p.Q613fs													.	PFAS	91		0			c.1837_1838insA																																									SO:0001589	frameshift_variant	5198	exon16			AATGGCCAGGGGG	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.1838dupA	17.37:g.8167576_8167576dupA	ENSP00000313490:p.Gln613fs		110	0	0		84	0.1	8	NM_012393	17	0	0	A6H8V8	Frame_Shift_Ins	INS	ENST00000314666.6	37	CCDS11136.1																																																																																					0.604	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226994.2				A	8167576	-	A	8167575	7	5	119	1	0	1	1	0	0	0	0	0	11771	595	21	0	1895	0	PFAS	17	8167575	Frame_Shift_Ins	INS	-	TCGA-XE-AAO6-01A-31D-A435-10		8167575	73027635	47	8930											
PIK3R5	23533	mdanderson.org	37	chr17	8812424	8812424	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggatctgctcaaggagGataaggaagtggcccgggtc	10	7	16	8	1	2	0	1	0	1	0	3	4	2	4	1	6	2	2	1	6	3	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr17:8812424G>T	ENST00000447110.1	-	3	295	c.171C>A	c.(169-171)atC>atA	p.I57I	PIK3R5_ENST00000584803.1_Silent_p.I57I|PIK3R5_ENST00000581552.1_Silent_p.I57I	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	57	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						GCTCAAGGAGGATAAGGAAGT	0.592																																					p.I57I	NSCLC(18;589 615 7696 20311 50332)												.	.			0			c.C171A												38	32	34					17																	8812424		2203	4300	6503	SO:0001819	synonymous_variant	23533	exon3			AAGGAGGATAAGG	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.171C>A	17.37:g.8812424G>T			56	0	0		50	0.06	3	NM_001142633	0		0	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	CCDS11147.1																																																																																					0.592	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000227003.2		NM_014308		T	8812424	G	T	8812424	2	4	119	1	0	0	0	0	0	0	0	1	11939	1164	41	3		3	PIK3R5	17	8812424	Silent	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	644849	8812424	72382786	48	8931											
DHRS7C	201140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	9683343	9683343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccaacaggaccagctttgGggtgaatgtctgctgaacca	10	9	12	10	0	1	2	0	2	1	0	2	3	2	3	3	3	4	2	3	3	3	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr17:9683343G>A	ENST00000330255.5	-	3	292	c.280C>T	c.(280-282)Cca>Tca	p.P94S	DHRS7C_ENST00000571134.1_Missense_Mutation_p.P93S	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	94					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACCAGCTTTGGGGTGAATGTC	0.507																																					p.P94S													.	.			0			c.C280T												61	61	61					17																	9683343		2039	4197	6236	SO:0001583	missense	201140	exon3			GCTTTGGGGTGAA		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.280C>T	17.37:g.9683343G>A	ENSP00000327975:p.Pro94Ser		113	0	0		85	0.19	16	NM_001220493	0		0	B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902524	0.72754	.	.	ENSG00000184544	ENST00000330255	D	0.87334	-2.24	5.48	5.48	0.80851	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92192	0.7524	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.69078	0.997;0.981	D;P	0.63283	0.913;0.796	D	0.92631	0.6116	10	0.66056	D	0.02	.	18.1339	0.89610	0.0:0.0:1.0:0.0	.	94;90	A6NNS2;B9EJH3	DRS7C_HUMAN;.	S	94	ENSP00000327975:P94S	ENSP00000327975:P94S	P	-	1	0	DHRS7C	9624068	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.450000	0.80656	2.567000	0.86603	0.655000	0.94253	CCA			0.507	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439863.1		XM_113912		A	9683343	G	A	9683343	3	1	119	1	0	0	0	0	1	0	0	0	4502	1232	43	3	674	3	DHRS7C	17	9683343	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	870919	9683343	71511867	49	8932											
SMCR7	125170	broad.mit.edu;mdanderson.org	37	chr17	18167776	18167776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgctgggactcgccggCggctgctgctgctgctgtgt	3	10	16	12	4	0	1	0	1	0	0	1	2	0	2	1	3	4	6	1	3	0	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr17:18167776C>G	ENST00000323019.4	+	4	1274	c.1063C>G	c.(1063-1065)Cgg>Ggg	p.R355G	MIEF2_ENST00000395706.2_Missense_Mutation_p.R366G|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	355					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)											GACTCGCCGGCGGCTGCTGCT	0.692																																					p.R366G													.	SMCR7	20		0			c.C1096G												29	36	34					17																	18167776		2186	4272	6458	SO:0001583	missense	0	exon4			CGCCGGCGGCTGC	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.1063C>G	17.37:g.18167776C>G	ENSP00000323591:p.Arg355Gly		30	0	0		17	0.18	3	NM_148886	3	0	0	J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281060	0.23392	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.08370	3.1;3.1	5.45	4.46	0.54185	.	0.565319	0.19845	N	0.104766	T	0.18299	0.0439	L	0.54323	1.7	0.09310	N	1	D	0.63046	0.992	D	0.64506	0.926	T	0.08391	-1.0724	10	0.23891	T	0.37	-46.6051	8.839	0.35131	0.1776:0.7427:0.0:0.0797	.	355	Q96C03	MID49_HUMAN	G	355;366	ENSP00000323591:R355G;ENSP00000379057:R366G	ENSP00000323591:R355G	R	+	1	2	SMCR7	18108501	0.001000	0.12720	0.844000	0.33320	0.146000	0.21551	0.143000	0.16115	1.199000	0.43173	0.462000	0.41574	CGG			0.692	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132060.2		NM_139162		G	18167776	C	G	18167776	3	3	119	1	0	0	0	0	1	0	0	0	14813	759	27	5	1110	5	SMCR7	17	18167776	Missense_Mutation	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	8484433	18167776	63027434	50	8933											
PSMD11	5717	broad.mit.edu	37	chr17	30771555	30771555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaagatggcggcggcggCggtggtggagttccagagag	7	6	21	7	5	0	2	0	0	0	2	1	4	1	3	1	8	0	2	1	8	1	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr17:30771555C>T	ENST00000261712.3	+	1	277	c.14C>T	c.(13-15)gCg>gTg	p.A5V	PSMD11_ENST00000457654.2_Missense_Mutation_p.A5V	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.701																																					p.A5V	Ovarian(130;1038 1716 9294 11987 19279)												.	PSMD11	41		0			c.C14T												18	18	18					17																	30771555		2186	4270	6456	SO:0001583	missense	5717	exon1			CGGCGGCGGTGGT	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.14C>T	17.37:g.30771555C>T	ENSP00000261712:p.Ala5Val		184	0	0		232	0.02	5	NM_002815	11	0	0	A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999150	0.74818	.	.	ENSG00000108671	ENST00000261712	.	.	.	5.25	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.08118	0	0.53688	D	0.999975	P;B	0.37038	0.579;0.212	B;B	0.33392	0.163;0.049	T	0.08086	-1.0739	9	0.27785	T	0.31	-19.5166	11.4424	0.50105	0.0:0.9133:0.0:0.0867	.	5;5	B4DTS5;O00231	.;PSD11_HUMAN	V	5	.	ENSP00000261712:A5V	A	+	2	0	PSMD11	27795668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.945000	0.75947	1.455000	0.47813	0.558000	0.71614	GCG			0.701	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256252.2		NM_002815		T	30771555	C	T	30771555	3	4	119	1	0	0	0	0	1	0	0	0	12714	768	27	1	16	1	PSMD11	17	30771555	Missense_Mutation	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	12603779	30771555	50423655	51	8934											
KRT36	8689	mdanderson.org	37	chr17	39644941	39644941	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggcattatcaatctgcagGaccagcctggcattctcaga	10	11	9	11	0	3	1	2	0	2	1	4	2	3	2	2	3	2	3	2	3	2	3			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr17:39644941G>T	ENST00000328119.6	-	2	494	c.495C>A	c.(493-495)gtC>gtA	p.V165V	KRT36_ENST00000393986.2_Silent_p.V115V	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	165	Coil 1B.|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)				CAATCTGCAGGACCAGCCTGG	0.577																																					p.V165V													.	.			0			c.C495A												130	119	123					17																	39644941		2203	4300	6503	SO:0001819	synonymous_variant	8689	exon2			CTGCAGGACCAGC	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.495C>A	17.37:g.39644941G>T			56	0	0		43	0.07	3	NM_003771	0		0	Q86XG4	Silent	SNP	ENST00000328119.6	37	CCDS11395.1																																																																																					0.577	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259508.1		NM_003771		T	39644941	G	T	39644941	2	4	119	1	0	0	0	0	0	0	0	1	8488	1161	41	3		3	KRT36	17	39644941	Silent	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	8873386	39644941	41550269	52	8935											
C19orf29	58509	mdanderson.org	37	chr19	3612401	3612401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtcctcggcgctctcGctggcgtctcctgcgggcgg	3	9	15	14	6	2	1	0	0	2	1	6	1	3	1	2	4	1	2	2	4	1	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr19:3612401G>A	ENST00000429344.2	-	10	1849	c.1797C>T	c.(1795-1797)agC>agT	p.S599S	CACTIN_ENST00000221899.3_Silent_p.S531S|CACTIN_ENST00000248420.5_Silent_p.S599S|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	599					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)										CGGCGCTCTCGCTGGCGTCTC	0.721																																					p.S599S													.	.			0			c.C1797T												15	16	16					19																	3612401		2100	4211	6311	SO:0001819	synonymous_variant	58509	exon10			GCTCTCGCTGGCG	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.1797C>T	19.37:g.3612401G>A			39	0	0		37	0.08	3	NM_001080543	80	0	0	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493117	0.26774	.	.	ENSG00000226800	ENST00000447295	.	.	.	3.56	-1.23	0.09465	.	.	.	.	.	T	0.50069	0.1594	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37911	-0.9685	5	0.24483	T	0.36	.	8.1269	0.31003	0.4915:0.0:0.5085:0.0	.	.	.	.	T	225	.	ENSP00000412459:A225T	A	+	1	0	C19orf29OS	3563401	0.930000	0.31532	0.998000	0.56505	0.736000	0.42039	0.099000	0.15210	-0.001000	0.14495	-0.275000	0.10095	GCT			0.721	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000457370.2				A	3612401	G	A	3612401	2	1	119	1	0	0	0	0	0	0	0	1	1920	1078	38	1		1	C19orf29	19	3612401	Silent	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10		3612401	55516582	53	8936											
CD320	51293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8367841	8367841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatggttgtggcatcccCttccgggaggatctcattgg	5	11	12	13	1	1	0	1	0	1	0	4	2	3	2	5	5	0	2	5	5	0	3			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr19:8367841C>T	ENST00000301458.5	-	4	590	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	CD320_ENST00000537716.2_Missense_Mutation_p.G134R|CD320_ENST00000596246.1_5'Flank	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	176					cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GTGGCATCCCCTTCCGGGAGG	0.622																																					p.G176R													.	.			0			c.G526A												28	28	28					19																	8367841		2203	4300	6503	SO:0001583	missense	51293	exon4			CATCCCCTTCCGG	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.526G>A	19.37:g.8367841C>T	ENSP00000301458:p.Gly176Arg		65	0	0		106	0.23	24	NM_016579	212	0.23	49	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	ENST00000301458.5	37	CCDS12198.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202152	0.22121	.	.	ENSG00000167775	ENST00000323539;ENST00000301458;ENST00000537716	D;D	0.96651	-3.04;-4.08	3.86	0.486	0.16836	.	0.831838	0.10368	N	0.683179	D	0.88680	0.6502	N	0.17082	0.46	0.09310	N	1	B;B	0.32101	0.356;0.107	B;B	0.27170	0.077;0.035	T	0.80569	-0.1324	10	0.24483	T	0.36	-4.4677	4.2189	0.10547	0.0:0.57:0.2175:0.2125	.	134;176	F5H6D3;Q9NPF0	.;CD320_HUMAN	R	7;176;134	ENSP00000301458:G176R;ENSP00000437697:G134R	ENSP00000301458:G176R	G	-	1	0	CD320	8273841	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	-0.080000	0.11339	0.209000	0.20645	0.655000	0.94253	GGG			0.622	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461366.1		NM_016579		T	8367841	C	T	8367841	3	4	119	1	0	0	0	0	1	0	0	0	3006	681	24	3	330	3	CD320	19	8367841	Missense_Mutation	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	4755440	8367841	50761142	54	8937											
RFX1	5989	mdanderson.org	37	chr19	14074032	14074032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagagcagccggatgaggtGgaaggaaccgaagctggcgg	11	4	19	7	3	0	2	0	1	0	1	0	6	0	5	2	6	4	3	2	6	4	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr19:14074032G>T	ENST00000254325.4	-	19	2860	c.2626C>A	c.(2626-2628)Cac>Aac	p.H876N		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	876	Necessary for dimerization.				immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGATGAGGTGGAAGGAACCG	0.667																																					p.H876N													.	.			0			c.C2626A												74	58	64					19																	14074032		2203	4300	6503	SO:0001583	missense	5989	exon19			TGAGGTGGAAGGA		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2626C>A	19.37:g.14074032G>T	ENSP00000254325:p.His876Asn		38	0	0		52	0.06	3	NM_002918	34	0	0		Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	g	32	5.133269	0.94517	.	.	ENSG00000132005	ENST00000254325	T	0.48522	0.81	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.83312	2.635	0.80722	D	1	P	0.47253	0.892	P	0.56648	0.803	T	0.70063	-0.4975	10	0.44086	T	0.13	-33.0247	17.1643	0.86811	0.0:0.0:1.0:0.0	.	876	P22670	RFX1_HUMAN	N	876	ENSP00000254325:H876N	ENSP00000254325:H876N	H	-	1	0	RFX1	13935032	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.670000	0.98625	2.360000	0.80028	0.430000	0.28490	CAC			0.667	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458510.1		NM_002918		T	14074032	G	T	14074032	3	4	119	1	0	0	0	0	1	0	0	0	13285	1348	47	3	325	3	RFX1	19	14074032	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	5706191	14074032	45054951	55	8938											
SLC27A1	376497	mdanderson.org	37	chr19	17581367	17581367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcgggctccgggtgcGggcgcggcctcggtggtctc	2	7	20	12	6	1	0	0	0	1	0	4	1	2	1	2	7	2	1	2	7	0	0			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr19:17581367G>A	ENST00000252595.7	+	1	115	c.18G>A	c.(16-18)gcG>gcA	p.A6A	SLC27A1_ENST00000442725.1_Silent_p.A6A|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	6					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTCCGGGTGCGGGCGCGGCCT	0.781																																					p.A6A													.	.			0			c.G18A												4	5	5					19																	17581367		1880	3738	5618	SO:0001819	synonymous_variant	376497	exon1			GGGTGCGGGCGCG	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.18G>A	19.37:g.17581367G>A			12	0	0		11	0.18	2	NM_198580	0		0	A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	CCDS32953.1																																																																																					0.781	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464145.1		NM_198580		A	17581367	G	A	17581367	2	1	119	1	0	0	0	0	0	0	0	1	14548	1103	39	1		1	SLC27A1	19	17581367	Silent	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	3507335	17581367	41547616	56	8939											
C20orf144	128864	mdanderson.org	37	chr20	32251487	32251487	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtagcgagcgcgagccgagGatgccggtactgctgctgct	6	7	17	11	5	0	0	0	0	0	0	0	4	0	1	2	3	8	5	2	3	2	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr20:32251487G>C	ENST00000375222.3	+	2	338	c.276G>C	c.(274-276)agG>agC	p.R92S	NECAB3_ENST00000606525.1_5'Flank|ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	92										lung(1)	1						GCGAGCCGAGGATGCCGGTAC	0.741																																					p.R92S													.	.			0			c.G276C												4	5	5					20																	32251487		1646	3432	5078	SO:0001583	missense	128864	exon2			GCCGAGGATGCCG	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.276G>C	20.37:g.32251487G>C	ENSP00000364370:p.Arg92Ser		16	0	0		11	0.09	1	NM_080825	0		0	Q1AHR2	Missense_Mutation	SNP	ENST00000375222.3	37	CCDS13223.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049999	0.36181	.	.	ENSG00000149609	ENST00000375222	T	0.44482	0.92	3.8	2.82	0.32997	.	0.256135	0.27495	N	0.019104	T	0.21186	0.0510	N	0.08118	0	0.09310	N	0.999998	B	0.15473	0.013	B	0.17098	0.017	T	0.15122	-1.0448	10	0.45353	T	0.12	-11.5584	7.6402	0.28290	0.1214:0.0:0.8786:0.0	.	92	Q9BQM9	CT144_HUMAN	S	92	ENSP00000364370:R92S	ENSP00000364370:R92S	R	+	3	2	C20orf144	31715148	0.906000	0.30813	0.063000	0.19743	0.029000	0.11900	1.262000	0.32992	0.913000	0.36797	0.400000	0.26472	AGG			0.741	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078714.2		NM_080825		C	32251487	G	C	32251487	3	2	119	1	0	0	0	0	1	0	0	0	2092	1165	41	5	282	5	C20orf144	20	32251487	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10		32251487	30774033	57	8940											
CYTSA	23384	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	24718079	24718079	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggaaggcatccccagcatAgagcgctcccggaaggggag	10	4	15	12	3	0	1	0	0	0	1	3	4	2	4	3	5	2	3	3	5	3	1	rs551676689		TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr22:24718079A>T	ENST00000314328.9	+	5	1416	c.1131A>T	c.(1129-1131)atA>atT	p.I377I	SPECC1L_ENST00000416735.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.I377I|SPECC1L_ENST00000437398.1_Silent_p.I377I|SPECC1L_ENST00000541492.1_Silent_p.I377I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	377					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TCCCCAGCATAGAGCGCTCCC	0.562													A|||	1	0.000199681	0	0.0014	5008	,	,		21152	0		0	False		,,,				2504	0				p.I377I													.	.			0			c.A1131T												48	51	50					22																	24718079		2203	4300	6503	SO:0001819	synonymous_variant	23384	exon4			CAGCATAGAGCGC	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1131A>T	22.37:g.24718079A>T			46	0	0		77	0.18	14	NM_001145468	11	0.09	1	B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	CCDS33619.1																																																																																					0.562	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319986.2		NM_015330		T	24718079	A	T	24718079	2	4	119	1	0	0	0	0	0	0	0	1	4211	410	15	5		5	CYTSA	22	24718079	Silent	SNP	A	TCGA-XE-AAO6-01A-31D-A435-10		24718079	26586487	58	8941											
SHANK3	85358	mdanderson.org	37	chr22	51169200	51169200	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcagcgcagcgcagcccCgggggcccgggcggcggggc	4	3	19	15	6	1	0	1	0	0	0	1	0	1	0	3	6	3	2	3	6	0	1			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chr22:51169200C>A	ENST00000414786.2	+	23	4868	c.4641C>A	c.(4639-4641)ccC>ccA	p.P1547P	SHANK3_ENST00000445220.2_Silent_p.P1563P|SHANK3_ENST00000262795.3_Silent_p.P1568P			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1552					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGCGCAgccccgggggcccgg	0.746																																					p.P1538P													.	.			0			c.C4614A												1	1	1					22																	51169200		482	1067	1549	SO:0001819	synonymous_variant	85358	exon22			CAGCCCCGGGGGC	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4641C>A	22.37:g.51169200C>A			20	0	0		20	0.1	2	NM_033517	10	0	0	D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37																																																																																						0.746	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000316674.2		NM_001080420		A	51169200	C	A	51169200	2	1	119	1	0	0	0	0	0	0	0	1	14289	639	23	1		1	SHANK3	22	51169200	Silent	SNP	C	TCGA-XE-AAO6-01A-31D-A435-10	26451121	51169200	135366	59	8942											
COL4A6	1288	broad.mit.edu;mdanderson.org	37	chrX	107457453	107457453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggggcctggttgtccaggGtggccctgttcaaagagaaa	8	9	15	9	0	1	1	1	0	0	1	2	2	2	1	3	5	0	2	3	5	2	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chrX:107457453G>T	ENST00000372216.4	-	6	433	c.333C>A	c.(331-333)caC>caA	p.H111Q	COL4A6_ENST00000334504.7_Missense_Mutation_p.H110Q|COL4A6_ENST00000394872.2_Missense_Mutation_p.H109Q|COL4A6_ENST00000538570.1_Missense_Mutation_p.H110Q|COL4A6_ENST00000545689.1_Missense_Mutation_p.H110Q	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	111	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						GTTGTCCAGGGTGGCCCTGTT	0.517									Alport syndrome with Diffuse Leiomyomatosis																												p.H111Q	Melanoma(87;1895 1945 2589 7165)												.	COL4A6	270		0			c.C333A												83	76	78					X																	107457453		2203	4300	6503	SO:0001583	missense	1288	exon6	Familial Cancer Database		TCCAGGGTGGCCC	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.333C>A	X.37:g.107457453G>T	ENSP00000361290:p.His111Gln		35	0	0		63	0.06	4	NM_001847	2	0	0	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	6.732	0.503853	0.12822	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93426	-3.17;-3.17;-3.22;-3.17;-3.17	4.92	3.13	0.36017	.	0.000000	0.42682	D	0.000669	D	0.90504	0.7025	L	0.33245	0.995	0.54753	D	0.99998	P;P;P;P	0.52061	0.911;0.95;0.928;0.911	P;P;P;P	0.53593	0.61;0.61;0.73;0.61	D	0.85440	0.1154	10	0.10636	T	0.68	.	10.1673	0.42888	0.1907:0.0:0.8093:0.0	.	110;110;111;110	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	Q	111;110;109;110;110;110	ENSP00000361290:H111Q;ENSP00000334733:H110Q;ENSP00000378340:H109Q;ENSP00000443707:H110Q;ENSP00000445236:H110Q	ENSP00000334733:H110Q	H	-	3	2	COL4A6	107344109	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	1.339000	0.33885	0.538000	0.28769	-1.483000	0.00984	CAC			0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057875.2				T	107457453	G	T	107457453	3	4	119	1	0	0	0	0	1	0	0	0	3697	1252	44	3	4902	3	COL4A6	23	107457453	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10		107457453	47813107	60	8943											
HAUS7	55559	mdanderson.org	37	chrX	152721206	152721206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcccgcagcagccccttGctcatgctgtgcaaagtact	7	9	10	15	2	1	0	1	0	0	0	1	0	1	0	3	0	7	6	3	0	2	2			TCGA-XE-AAO6-01A-31D-A435-10	TCGA-XE-AAO6-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2979e53-eb2f-43a8-853a-f90da33bbd9f	9ef93c95-4322-4957-bf77-80f23f328b8c	g.chrX:152721206G>T	ENST00000370211.4	-	8	797	c.754C>A	c.(754-756)Caa>Aaa	p.Q252K	HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000421080.2_Intron|TREX2_ENST00000370232.1_Intron|TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.Q252K	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	252					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						GCAGCCCCTTGCTCATGCTGT	0.607																																					p.Q252K													.	.			0			c.C754A												48	50	49					X																	152721206		2203	4300	6503	SO:0001583	missense	55559	exon8			CCCCTTGCTCATG	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.754C>A	X.37:g.152721206G>T	ENSP00000359230:p.Gln252Lys		24	0	0		23	0.09	2	NM_017518	104	0	0	B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	CCDS35438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.133|0.133	-1.111290|-1.111290	0.01813|0.01813	.|.	.|.	ENSG00000213397|ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212|ENST00000435662	T;T;T|.	0.23552|.	1.9;1.9;1.9|.	4.8|4.8	-0.682|-0.682	0.11339|0.11339	.|.	1.613170|.	0.04121|.	N|.	0.316254|.	T|T	0.36799|0.36799	0.0980|0.0980	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B|.	0.18013|.	0.002;0.025|.	B;B|.	0.16722|.	0.002;0.016|.	T|T	0.34601|0.34601	-0.9822|-0.9822	10|5	0.27082|.	T|.	0.32|.	1.5548|1.5548	8.6788|8.6788	0.34196|0.34196	0.0:0.5749:0.1878:0.2373|0.0:0.5749:0.1878:0.2373	.|.	252;252|.	Q99871;Q99871-2|.	HAUS7_HUMAN;.|.	K|R	242;252;252|35	ENSP00000359230:Q242K;ENSP00000359239:Q252K;ENSP00000359231:Q252K|.	ENSP00000359230:Q242K|.	Q|S	-|-	1|3	0|2	HAUS7|HAUS7	152374400|152374400	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	0.132000|0.132000	0.15891|0.15891	-0.217000|-0.217000	0.10033|0.10033	0.292000|0.292000	0.19580|0.19580	CAA|AGC			0.607	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000060963.2		NM_017518		T	152721206	G	T	152721206	3	4	119	1	0	0	0	0	1	0	0	0	6986	1328	46	2	364	2	HAUS7	23	152721206	Missense_Mutation	SNP	G	TCGA-XE-AAO6-01A-31D-A435-10	45263753	152721206	2549354	61	8944											
MIB2	142678	ucsc.edu;bcgsc.ca	37	chr1	1564101	1564101	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgcagctgctgtccaGggtgaggaagtgtggcgtgg	5	9	18	9	1	0	1	0	1	0	0	1	2	1	2	2	4	3	3	2	4	1	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr1:1564101G>T	ENST00000357210.4	+	16	2591	c.2375G>T	c.(2374-2376)aGg>aTg	p.R792M	MIB2_ENST00000378710.3_Splice_Site_p.R756M|MIB2_ENST00000520777.1_Splice_Site_p.R845M|MIB2_ENST00000360522.4_Splice_Site_p.R757M|MIB2_ENST00000504599.1_Splice_Site_p.R748M|MIB2_ENST00000355826.5_Splice_Site_p.R835M|MIB2_ENST00000505820.2_Splice_Site_p.R849M|MIB2_ENST00000378712.1_Splice_Site_p.R669M|MIB2_ENST00000378708.1_Splice_Site_p.R698M|MIB2_ENST00000518681.1_Splice_Site_p.R784M	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	792					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCTGTCCAGGGTGAGGAAG	0.706																																					p.R849M													.	MIB2	62		0			c.G2546T												8	12	11					1																	1564101		1956	4004	5960	SO:0001630	splice_region_variant	142678	exon16			TGTCCAGGGTGAG	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2376+1G>T	1.37:g.1564101G>T			35	0	0		37	0.11	4	NM_080875	40	0	0	A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.73|14.73	2.622726|2.622726	0.46840|0.46840	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000514234|ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	.|T;T;T;T;T;T;T;T;T;T	.|0.66815	.|1.27;1.29;1.29;1.29;1.28;1.27;1.27;-0.23;1.28;1.29	4.03|4.03	4.03|4.03	0.46877|0.46877	.|Ankyrin repeat-containing domain (1);	.|0.267927	.|0.29668	.|U	.|0.011506	T|T	0.71187|0.71187	0.3310|0.3310	L|L	0.43152|0.43152	1.355|1.355	0.36402|0.36402	D|D	0.863208|0.863208	.|P;D;D;D;D;D;P	.|0.71674	.|0.591;0.984;0.993;0.963;0.997;0.998;0.939	.|B;P;P;P;P;D;P	.|0.64595	.|0.312;0.847;0.825;0.719;0.907;0.927;0.465	T|T	0.76705|0.76705	-0.2861|-0.2861	5|10	.|0.56958	.|D	.|0.05	-3.4578|-3.4578	9.4515|9.4515	0.38729|0.38729	0.1164:0.0:0.8836:0.0|0.1164:0.0:0.8836:0.0	.|.	.|757;698;669;784;845;778;792	.|Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.|.;.;.;.;.;.;MIB2_HUMAN	H|M	607|845;792;757;756;835;784;849;669;748;698	.|ENSP00000428660:R845M;ENSP00000349741:R792M;ENSP00000353713:R757M;ENSP00000367982:R756M;ENSP00000348081:R835M;ENSP00000428264:R784M;ENSP00000426103:R849M;ENSP00000367984:R669M;ENSP00000426128:R748M;ENSP00000367980:R698M	.|ENSP00000348081:R835M	Q|R	+|+	3|2	2|0	MIB2|MIB2	1553964|1553964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.736000|0.736000	0.42039|0.42039	2.926000|2.926000	0.48892|0.48892	1.966000|1.966000	0.57179|0.57179	0.491000|0.491000	0.48974|0.48974	CAG|AGG			0.706	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_080875	Missense_Mutation	T	1564101	G	T	1564101	5	4	120	1	0	0	0	0	0	0	1	0	9583	1014	35	3	2608	3	MIB2	1	1564101	Splice_Site	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		1564101	247686520	1	8945											
PRDM2	7799	hgsc.bcm.edu	37	chr1	14105122	14105124	+	In_Frame_Del	DEL	GAA	GAA	-																															aggaggaagaggaggaggatGaagaagaagaagaagatgat																								rs556843220|rs375577840	byFrequency	TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	GAA	GAA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr1:14105122_14105124delGAA	ENST00000235372.7	+	8	1688_1690	c.832_834delGAA	c.(832-834)gaadel	p.E282del	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_In_Frame_Del_p.E81del|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_In_Frame_Del_p.E81del|PRDM2_ENST00000311066.5_In_Frame_Del_p.E282del	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	282	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 6; AAA87023). {ECO:0000305}.	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)		ggaggaggatgaagaagaagaag	0.498																																					p.277_278del													PRDM2,colon,carcinoma,0,1	PRDM2	147		0			c.831_833del																																									SO:0001651	inframe_deletion	7799	exon8			GAGGATGAAGAAG	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.832_834delGAA	1.37:g.14105131_14105133delGAA	ENSP00000235372:p.Glu282del		150	0	0		149	0.07	10	NM_015866	1	0	0	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	In_Frame_Del	DEL	ENST00000235372.7	37	CCDS150.1																																																																																					0.498	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000021792.2		NM_012231		-	14105124	GAA	-	14105122	7	5	120	1	0	1	0	1	0	0	0	0	12478	1291	45	0	858	0	PRDM2	1	14105122	In_Frame_Del	DEL	GAA	TCGA-XE-AAOB-01A-11D-A435-10	12541021	14105122	235145499	2	8946											
COL11A1	1301	broad.mit.edu	37	chr1	103491776	103491776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctttgtttttacctccGtctgtgctattgtctcctca	4	19	6	12	1	3	0	1	0	2	0	5	0	4	0	3	0	3	3	3	0	2	6	rs398123652		TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr1:103491776G>C	ENST00000370096.3	-	6	1205	c.893C>G	c.(892-894)aCg>aGg	p.T298R	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Missense_Mutation_p.T298R|COL11A1_ENST00000358392.2_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	298	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)		TTTTACCTCCGTCTGTGCTAT	0.433																																					p.T298R													COL11A1_ENST00000370096,NS,carcinoma,+1,2	COL11A1	972	2	0			c.C893G												271	224	240					1																	103491776		2203	4300	6503	SO:0001583	missense	1301	exon6			ACCTCCGTCTGTG	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.893C>G	1.37:g.103491776G>C	ENSP00000359114:p.Thr298Arg		248	0	0		215	0.03	6	NM_080630	7	0	0	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790392	0.50102	.	.	ENSG00000060718	ENST00000370096;ENST00000512756	D;D	0.88586	-2.33;-2.4	5.39	5.39	0.77823	.	.	.	.	.	D	0.90916	0.7145	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.74348	0.983;0.983	D	0.87413	0.2377	9	0.13853	T	0.58	.	19.1559	0.93510	0.0:0.0:1.0:0.0	.	298;298	E9PCU0;P12107	.;COBA1_HUMAN	R	298	ENSP00000359114:T298R;ENSP00000426533:T298R	ENSP00000359114:T298R	T	-	2	0	COL11A1	103264364	1.000000	0.71417	0.970000	0.41538	0.992000	0.81027	7.064000	0.76721	2.529000	0.85273	0.643000	0.83706	ACG			0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000029997.1		NM_080630		C	103491776	G	C	103491776	3	2	120	1	0	0	0	0	1	0	0	0	3669	1145	40	5	4932	5	COL11A1	1	103491776	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	89386654	103491776	145758845	3	8947											
NBPF10	100132406	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	145326040	145326040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caactccttcaggttgtcttGaactgactgactcatgccag	9	12	8	12	0	3	3	2	3	1	0	4	3	4	3	2	1	3	1	2	1	2	3			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr1:145326040G>C	ENST00000342960.5	+	30	3948	c.3913G>C	c.(3913-3915)Gaa>Caa	p.E1305Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	648						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)		AGGTTGTCTTGAACTGACTGA	0.483																																					p.E1305Q													.	.			0			c.G3913C																																									SO:0001583	missense	100132406	exon30			TGTCTTGAACTGA	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.3913G>C	1.37:g.145326040G>C	ENSP00000345684:p.Glu1305Gln		73	0	0		70	0.24	17	NM_001039703	0		0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	8.049	0.765592	0.15914	.	.	ENSG00000163386	ENST00000342960	T	0.08634	3.07	0.557	-1.11	0.09840	.	.	.	.	.	T	0.07007	0.0178	M	0.85542	2.76	0.09310	N	1	.	.	.	.	.	.	T	0.20806	-1.0264	6	0.39692	T	0.17	.	.	.	.	.	.	.	.	Q	1305	ENSP00000345684:E1305Q	ENSP00000345684:E1305Q	E	+	1	0	NBPF10	144037397	0.006000	0.16342	0.001000	0.08648	0.012000	0.07955	0.107000	0.15375	-0.392000	0.07751	0.152000	0.16155	GAA			0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001039703		C	145326040	G	C	145326040	3	2	120	1	0	0	0	0	1	0	0	0	10209	1291	45	5	4031	5	NBPF10	1	145326040	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	41834264	145326040	103924581	4	8948											
ILDR2	387597	mdanderson.org	37	chr1	166890612	166890612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctccgacttggagcgcgGctggctgcgggcagagaagg	7	6	17	11	4	1	1	0	0	1	1	2	4	1	2	1	5	2	3	1	5	1	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr1:166890612G>A	ENST00000271417.3	-	9	1271	c.1216C>T	c.(1216-1218)Ccg>Tcg	p.P406S	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.P347S|ILDR2_ENST00000529071.1_Missense_Mutation_p.P387S|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.P279S|ILDR2_ENST00000526687.1_Missense_Mutation_p.P298S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	406					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						TTGGAGCGCGGCTGGCTGCGG	0.687																																					p.P406S													.	.			0			c.C1216T												14	17	16					1																	166890612		2160	4237	6397	SO:0001583	missense	387597	exon9			AGCGCGGCTGGCT	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.1216C>T	1.37:g.166890612G>A	ENSP00000271417:p.Pro406Ser		29	0	0		21	0.1	2	NM_199351	0		0		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	9.946	1.218884	0.22373	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T	0.77620	0.51;-1.09;0.5;-1.11;-0.1	4.73	4.73	0.59995	.	0.392121	0.27906	N	0.017365	T	0.51873	0.1700	L	0.36672	1.1	0.32869	D	0.508985	B	0.24258	0.1	B	0.21708	0.036	T	0.48317	-0.9046	10	0.07990	T	0.79	.	17.7848	0.88534	0.0:0.0:1.0:0.0	.	406	Q71H61	ILDR2_HUMAN	S	406;279;387;298;347	ENSP00000271417:P406S;ENSP00000436120:P279S;ENSP00000436882:P387S;ENSP00000434273:P298S;ENSP00000432750:P347S	ENSP00000271417:P406S	P	-	1	0	ILDR2	165157236	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	5.355000	0.66046	2.172000	0.68678	0.558000	0.71614	CCG			0.687	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082880.2		NM_199351		A	166890612	G	A	166890612	3	1	120	1	0	0	0	0	1	0	0	0	7725	1203	42	2	711	2	ILDR2	1	166890612	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	21564572	166890612	82360009	5	8949											
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186056429	186056429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctatcaatcaagctggcGaaagcaagaaaaagttttcc	16	9	8	8	1	2	1	2	0	0	1	3	2	3	1	1	1	3	4	1	1	8	4			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr1:186056429G>A	ENST00000271588.4	+	59	9356	c.9127G>A	c.(9127-9129)Gaa>Aaa	p.E3043K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3043K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3043	Ig-like C2-type 28.				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)	p.E3043K(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						TCAAGCTGGCGAAAGCAAGAA	0.353																																					p.E3043K													HMCN1,NS,carcinoma,0,2	HMCN1	0	2	1	Substitution - Missense(1)	pancreas(1)	c.G9127A												145	140	142					1																	186056429		2203	4300	6503	SO:0001583	missense	83872	exon59			GCTGGCGAAAGCA	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.9127G>A	1.37:g.186056429G>A	ENSP00000271588:p.Glu3043Lys		221	0	0		175	0.17	30	NM_031935	1	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814527	0.90790	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.84	4.93	0.64822	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042858	0.85682	N	0.000000	T	0.70090	0.3184	L	0.39245	1.2	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.66460	-0.5918	10	0.23891	T	0.37	.	14.8696	0.70448	0.0687:0.0:0.9313:0.0	.	3043	Q96RW7	HMCN1_HUMAN	K	3043	ENSP00000271588:E3043K;ENSP00000356462:E3043K	ENSP00000271588:E3043K	E	+	1	0	HMCN1	184323052	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	6.962000	0.76048	1.464000	0.47987	0.655000	0.94253	GAA			0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131848.1		NM_031935		A	186056429	G	A	186056429	3	1	120	1	0	0	0	0	1	0	0	0	7235	1059	37	1	9361	1	HMCN1	1	186056429	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	19165817	186056429	63194192	6	8950											
PTGS2	5743	broad.mit.edu	37	chr1	186645692	186645692	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatactctgttgtgttcccGcagccagattgtggcataca	8	12	10	11	1	1	1	0	0	1	1	2	1	2	1	2	1	3	5	2	1	2	5			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr1:186645692G>T	ENST00000367468.5	-	7	1013	c.877C>A	c.(877-879)Cgg>Agg	p.R293R	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTGTGTTCCCGCAGCCAGATT	0.507																																					p.R293R													PTGS2_ENST00000367468,NS,carcinoma,0,4	PTGS2	144	4	0			c.C877A												142	131	135					1																	186645692		2203	4300	6503	SO:0001819	synonymous_variant	5743	exon7			GTTCCCGCAGCCA	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.877C>A	1.37:g.186645692G>T			112	0	0		101	0.04	4	NM_000963	2	0	0	A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	CCDS1371.1																																																																																					0.507	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086157.2		NM_000963		T	186645692	G	T	186645692	2	4	120	1	0	0	0	0	0	0	0	1	12777	1086	38	1		1	PTGS2	1	186645692	Silent	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	589263	186645692	62604929	7	8951											
TET3	200424	mdanderson.org	37	chr2	74307690	74307690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggggaaggagggaaagaGctcccgcggttgccccattg	9	5	16	11	3	0	1	0	0	0	1	1	4	1	4	3	5	2	2	3	5	2	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr2:74307690G>T	ENST00000409262.3	+	3	2246	c.2246G>T	c.(2245-2247)aGc>aTc	p.S749I		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	749					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						GAGGGAAAGAGCTCCCGCGGT	0.587																																					p.S749I													.	.			0			c.G2246T												48	52	51					2																	74307690		1988	4152	6140	SO:0001583	missense	200424	exon3			GAAAGAGCTCCCG		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.2246G>T	2.37:g.74307690G>T	ENSP00000386869:p.Ser749Ile		52	0	0		52	0.06	3	NM_144993	0		0	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091764	0.94149	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.38401	1.14	5.28	5.28	0.74379	TET cysteine-rich domain (1);	0.042316	0.85682	D	0.000000	T	0.63153	0.2487	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66472	-0.5915	10	0.87932	D	0	.	17.8379	0.88706	0.0:0.0:1.0:0.0	.	749	O43151	TET3_HUMAN	I	749	ENSP00000386869:S749I	ENSP00000233310:S749I	S	+	2	0	TET3	74161198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.745000	0.94114	0.655000	0.94253	AGC			0.587	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328141.4				T	74307690	G	T	74307690	3	4	120	1	0	0	0	0	1	0	0	0	15794	971	34	2	2256	2	TET3	2	74307690	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		74307690	168891683	8	8952											
NR4A2	4929	broad.mit.edu	37	chr2	157182338	157182338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatttcaggtagaaaatgCgctgtagcccctgtgtgcaa	11	10	10	10	1	1	1	1	0	0	1	1	1	1	1	3	1	3	4	3	1	6	3			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr2:157182338C>T	ENST00000339562.4	-	8	2077	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	NR4A2_ENST00000409108.2_Silent_p.A537A|NR4A2_ENST00000409572.1_Missense_Mutation_p.R572H|NR4A2_ENST00000426264.1_Missense_Mutation_p.R509H|NR4A2_ENST00000539077.1_Missense_Mutation_p.R583H|NR4A2_ENST00000429376.1_Silent_p.A474A	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	572					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						GTAGAAAATGCGCTGTAGCCC	0.483																																					p.R572H													NR4A2,NS,carcinoma,-1,1	NR4A2	82	1	0			c.G1715A												108	111	110					2																	157182338		2203	4300	6503	SO:0001583	missense	0	exon8			AAAATGCGCTGTA	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.1715G>A	2.37:g.157182338C>T	ENSP00000344479:p.Arg572His		185	0	0		185	0.02	4	NM_006186	10	0	0	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038732	0.75617	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	6.07	6.07	0.98685	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95703	0.8751	10	0.19590	T	0.45	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	572	P43354	NR4A2_HUMAN	H	572;509;572;583	ENSP00000344479:R572H;ENSP00000389986:R509H;ENSP00000386747:R572H;ENSP00000444925:R583H	ENSP00000344479:R572H	R	-	2	0	NR4A2	156890584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CGC			0.483	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254909.2				T	157182338	C	T	157182338	3	4	120	1	0	0	0	0	1	0	0	0	10650	768	27	1	85	1	NR4A2	2	157182338	Missense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	82874648	157182338	86017035	9	8953											
FARSB	10056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	223507631	223507631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggagatcatatctatTggcagggacgtcaattttgt	12	12	10	7	1	3	1	2	0	1	1	3	3	3	2	0	3	0	1	0	3	3	5			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr2:223507631T>C	ENST00000281828.6	-	3	471	c.208A>G	c.(208-210)Aat>Gat	p.N70D	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	70					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TCATATCTATTGGCAGGGACG	0.393																																					p.N70D													.	.			0			c.A208G												95	90	91					2																	223507631		2203	4300	6503	SO:0001583	missense	10056	exon3			ATCTATTGGCAGG	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.208A>G	2.37:g.223507631T>C	ENSP00000281828:p.Asn70Asp		142	0	0		115	0.15	17	NM_005687	39	0.36	14	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.948840	0.92660	.	.	ENSG00000116120	ENST00000281828	.	.	.	5.62	5.62	0.85841	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.85180	0.1003	9	0.44086	T	0.13	-28.2635	15.837	0.78805	0.0:0.0:0.0:1.0	.	70;70	A8K666;Q9NSD9	.;SYFB_HUMAN	D	70	.	ENSP00000281828:N70D	N	-	1	0	FARSB	223215875	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.694000	0.84235	2.140000	0.66376	0.460000	0.39030	AAT			0.393	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256855.2		NM_005687		C	223507631	T	C	223507631	3	2	120	1	0	0	0	0	1	0	0	0	5693	1812	63	4	1621	4	FARSB	2	223507631	Missense_Mutation	SNP	T	TCGA-XE-AAOB-01A-11D-A435-10	66325293	223507631	19691742	10	8954											
SLIT2	9353	mdanderson.org	37	chr4	20570610	20570610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataactacacatgcctttGcccacctgagtatacaggta	13	11	6	11	0	0	1	0	1	0	0	0	1	0	1	3	1	5	2	3	1	6	7			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr4:20570610G>T	ENST00000504154.1	+	29	3323	c.3071G>T	c.(3070-3072)tGc>tTc	p.C1024F	SLIT2_ENST00000273739.5_Missense_Mutation_p.C1028F|SLIT2_ENST00000503823.1_Missense_Mutation_p.C1016F|SLIT2_ENST00000503837.1_Missense_Mutation_p.C1020F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1024	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						ACATGCCTTTGCCCACCTGAG	0.333																																					p.C1024F													.	.			0			c.G3071T												124	114	117					4																	20570610		2203	4300	6503	SO:0001583	missense	9353	exon29			GCCTTTGCCCACC	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.3071G>T	4.37:g.20570610G>T	ENSP00000422591:p.Cys1024Phe		73	0	0		46	0.07	3	NM_004787	1	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.276495|4.276495	0.80580|0.80580	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837|ENST00000509941	D;D;D;D|D	0.99992|0.95588	-12.4;-12.4;-12.4;-12.4|-3.75	5.61|5.61	5.61|5.61	0.85477|0.85477	EGF (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.99039|0.99039	0.9671|0.9671	H|H	0.99609|0.99609	4.655|4.655	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.98802|0.98802	1.0740|1.0740	10|6	0.87932|.	D|.	0|.	.|.	20.0018|20.0018	0.97417|0.97417	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1016;1024|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	F|F	1016;1024;1028;1020;1020|154	ENSP00000427548:C1016F;ENSP00000422591:C1024F;ENSP00000273739:C1028F;ENSP00000422261:C1020F|ENSP00000425609:L154F	ENSP00000273739:C1028F|.	C|L	+|+	2|3	0|2	SLIT2|SLIT2	20179708|20179708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.420000|9.420000	0.97426|0.97426	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	TGC|TTG			0.333	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250396.2				T	20570610	G	T	20570610	3	4	120	1	0	0	0	0	1	0	0	0	14763	1319	46	2	3185	2	SLIT2	4	20570610	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		20570610	170583666	11	8955											
CCDC149	91050	broad.mit.edu	37	chr4	24875311	24875311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataagtcttacctgtttccTtttttcaggaggaagtgatg	10	16	9	6	0	2	1	1	1	1	0	3	3	3	3	2	2	1	1	2	2	4	6			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr4:24875311T>C	ENST00000389609.4	-	4	399	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	CCDC149_ENST00000504487.1_Missense_Mutation_p.R86G|CCDC149_ENST00000502801.1_Missense_Mutation_p.R86G|CCDC149_ENST00000428116.2_Missense_Mutation_p.R31G	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	31										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				ACCTGTTTCCTTTTTTCAGGA	0.343																																					p.R86G													.	CCDC149	41		0			c.A256G												76	80	79					4																	24875311		2203	4300	6503	SO:0001583	missense	91050	exon4			GTTTCCTTTTTTC		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.256A>G	4.37:g.24875311T>C	ENSP00000374260:p.Arg86Gly		92	0	0		79	0.05	4	NM_173463	4	0	0	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	ENST00000389609.4	37	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	T	14.53	2.561491	0.45590	.	.	ENSG00000181982	ENST00000504487;ENST00000428116;ENST00000389609;ENST00000502801;ENST00000382116;ENST00000503881	T	0.22743	1.94	5.4	4.2	0.49525	.	0.144833	0.35646	U	0.003075	T	0.39759	0.1090	L	0.60455	1.87	0.38359	D	0.944567	D;D;D	0.76494	0.984;0.997;0.999	P;D;D	0.80764	0.874;0.994;0.964	T	0.25745	-1.0123	10	0.36615	T	0.2	-4.6108	12.1154	0.53861	0.0:0.0:0.1436:0.8564	.	31;86;86	Q6ZUS6;D6RIA9;G5EA04	CC149_HUMAN;.;.	G	86;31;86;86;10;31	ENSP00000427529:R86G	ENSP00000371550:R10G	R	-	1	2	CCDC149	24484409	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.474000	0.45154	0.965000	0.38133	0.519000	0.50382	AGG			0.343	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000360157.1		NM_173463		C	24875311	T	C	24875311	3	2	120	1	0	0	0	0	1	0	0	0	2785	1608	56	4	1377	4	CCDC149	4	24875311	Missense_Mutation	SNP	T	TCGA-XE-AAOB-01A-11D-A435-10	4304701	24875311	166278965	12	8956											
TRIM61	391712	broad.mit.edu	37	chr4	165890992	165890992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggacagcaaaagtggcaaaAggggcaggggaaactatcat	16	5	14	6	0	1	0	1	0	0	0	1	2	1	2	0	6	2	3	0	6	6	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr4:165890992A>G	ENST00000329314.5	-	3	775	c.163T>C	c.(163-165)Ttt>Ctt	p.F55L		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	55						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		AAGTGGCAAAAGGGGCAGGGG	0.448																																					p.F55L													.	TRIM61	11		0			c.T163C												104	84	91					4																	165890992		2201	4298	6499	SO:0001583	missense	391712	exon3			GGCAAAAGGGGCA		CCDS34093.1	4q32.3	2013-01-09	2011-01-25			ENSG00000183439		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24339	protein-coding gene	gene with protein product			"ring finger protein 35", "tripartite motif-containing 61"	RNF35			Standard	NM_001012414		Approved		uc003iqw.3	Q5EBN2		ENST00000329314.5:c.163T>C	4.37:g.165890992A>G	ENSP00000332288:p.Phe55Leu		907	0.0011025358	1		672	0.01	6	NM_001012414	6	0	0		Missense_Mutation	SNP	ENST00000329314.5	37	CCDS34093.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460500	0.43736	.	.	ENSG00000183439	ENST00000329314	T	0.14893	2.47	3.09	-4.89	0.03103	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.02727	0.0082	N	0.00377	-1.585	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42616	-0.9441	9	0.16420	T	0.52	.	2.6621	0.05029	0.2276:0.4939:0.1161:0.1623	.	55	Q5EBN2	TRI61_HUMAN	L	55	ENSP00000332288:F55L	ENSP00000332288:F55L	F	-	1	0	TRIM61	166110442	0.000000	0.05858	0.000000	0.03702	0.412000	0.31113	-3.434000	0.00472	-0.434000	0.07275	0.473000	0.43528	TTT			0.448	TRIM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364331.1		XM_373038		G	165890992	A	G	165890992	3	3	120	1	0	0	0	0	1	0	0	0	16560	72	3	4	474	4	TRIM61	4	165890992	Missense_Mutation	SNP	A	TCGA-XE-AAOB-01A-11D-A435-10	141015681	165890992	25263284	13	8957											
SAP30	8819	broad.mit.edu	37	chr4	174295154	174295154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagacacttcaagctaccaaCcagaccaggacttaataaag	18	6	6	11	0	1	2	1	0	0	2	1	3	1	3	3	1	3	1	3	1	7	4			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr4:174295154C>A	ENST00000296504.3	+	3	746	c.506C>A	c.(505-507)aCc>aAc	p.T169N		NM_003864.3	NP_003855.1			Sin3A-associated protein, 30kDa											large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AAGCTACCAACCAGACCAGGA	0.318																																					p.T169N													.	SAP30	9		0			c.C506A												108	112	111					4																	174295154		2203	4298	6501	SO:0001583	missense	8819	exon3			TACCAACCAGACC	AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"sin3A-associated protein, 30kDa"			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000296504.3:c.506C>A	4.37:g.174295154C>A	ENSP00000296504:p.Thr169Asn		391	0	0		349	0.02	6	NM_003864	56	0	0		Missense_Mutation	SNP	ENST00000296504.3	37	CCDS3817.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226483	0.58668	.	.	ENSG00000164105	ENST00000296504	.	.	.	4.79	4.79	0.61399	.	0.349373	0.27327	N	0.019878	T	0.77850	0.4192	M	0.82323	2.585	0.58432	D	0.999991	D	0.56746	0.977	P	0.56434	0.798	T	0.82426	-0.0463	9	0.72032	D	0.01	-0.7914	18.1975	0.89828	0.0:1.0:0.0:0.0	.	169	O75446	SAP30_HUMAN	N	169	.	ENSP00000296504:T169N	T	+	2	0	SAP30	174531729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.321000	0.79088	2.372000	0.80975	0.467000	0.42956	ACC			0.318	SAP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362360.1		NM_003864		A	174295154	C	A	174295154	3	1	120	1	0	0	0	0	1	0	0	0	13856	507	18	3	516	3	SAP30	4	174295154	Missense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	8404162	174295154	16859122	14	8958											
ANKHD1	54882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	139819758	139819758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttaatgctgttcgtaaattGctagatgaaggcagaagtgt	12	13	12	4	1	0	3	0	1	0	2	1	3	0	3	0	1	2	6	0	1	6	5			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr5:139819758G>A	ENST00000360839.2	+	4	826	c.672G>A	c.(670-672)ttG>ttA	p.L224L	ANKHD1_ENST00000297183.6_Silent_p.L224L|ANKHD1_ENST00000394723.3_Silent_p.L224L|ANKHD1_ENST00000394722.3_Silent_p.L213L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L224L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	224						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTAAATTGCTAGATGAAG	0.408																																					p.L224L													.	.			0			c.G672A												160	157	158					5																	139819758		2203	4300	6503	SO:0001819	synonymous_variant	54882	exon4			TAAATTGCTAGAT	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.672G>A	5.37:g.139819758G>A			98	0	0		59	0.17	10	NM_024668	38	0.18	7	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1																																																																																					0.408	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000251672.1		NM_017747		A	139819758	G	A	139819758	2	1	120	1	0	0	0	0	0	0	0	1	628	1310	46	2		2	ANKHD1	5	139819758	Silent	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		139819758	41095502	15	8959											
PCDHB13	56123	broad.mit.edu	37	chr5	140594283	140594283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaatacccagagctggtGctggacaaagcgctggaccg	12	5	14	10	2	0	1	0	0	0	1	0	4	0	4	2	4	4	3	2	4	3	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr5:140594283G>A	ENST00000341948.4	+	1	775	c.588G>A	c.(586-588)gtG>gtA	p.V196V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	196	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)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGCTGGTGCTGGACAAAG	0.527																																					p.V196V													.	PCDHB13	142		0			c.G588A												40	45	43					5																	140594283		2202	4280	6482	SO:0001819	synonymous_variant	0	exon1			GCTGGTGCTGGAC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.588G>A	5.37:g.140594283G>A			409	0	0		308	0.04	11	NM_018933	1	0	0	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																					0.527	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251810.1		NM_018933		A	140594283	G	A	140594283	2	1	120	1	0	0	0	0	0	0	0	1	11555	1306	46	2		2	PCDHB13	5	140594283	Silent	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	774525	140594283	40320977	16	8960											
HK3	3101	mdanderson.org	37	chr5	176308175	176308175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaacgtgaccacacagcGaggggccagctcccgcactg	10	3	13	15	3	0	1	0	1	0	0	1	3	1	2	3	3	3	2	3	3	1	0	rs200044768		TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr5:176308175G>T	ENST00000292432.5	-	19	2762	c.2671C>A	c.(2671-2673)Cgc>Agc	p.R891S		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	891	Catalytic.|Hexokinase type-2 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)			ACCACACAGCGAGGGGCCAGC	0.677																																					p.R891S													HK3_ENST00000292432,NS,carcinoma,+1,3	HK3_ENST00000292432	1	3	0			c.C2671A												50	49	49					5																	176308175		2203	4300	6503	SO:0001583	missense	3101	exon19			CACAGCGAGGGGC		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.2671C>A	5.37:g.176308175G>T	ENSP00000292432:p.Arg891Ser		69	0	0		43	0.07	3	NM_002115	133	0	0	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	6.129	0.392089	0.11581	.	.	ENSG00000160883	ENST00000292432	D	0.97976	-4.64	5.22	2.51	0.30379	Hexokinase, C-terminal (1);	0.633028	0.14191	N	0.335344	D	0.92371	0.7579	N	0.10782	0.045	0.09310	N	1	B	0.30634	0.288	B	0.39503	0.301	D	0.85721	0.1325	10	0.15499	T	0.54	-3.7085	3.9852	0.09513	0.3268:0.0:0.5184:0.1547	.	891	P52790	HXK3_HUMAN	S	891	ENSP00000292432:R891S	ENSP00000292432:R891S	R	-	1	0	HK3	176240781	0.000000	0.05858	0.228000	0.23943	0.821000	0.46438	0.218000	0.17622	0.367000	0.24454	0.561000	0.74099	CGC			0.677	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253428.1				T	176308175	G	T	176308175	3	4	120	1	0	0	0	0	1	0	0	0	7207	1058	37	1	104	1	HK3	5	176308175	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	35713892	176308175	4607085	17	8961											
EPB41L2	2037	mdanderson.org	37	chr6	131222222	131222222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatagtcaccaagttcaGcctgcagggtgtaggatccc	9	9	12	11	0	3	0	3	0	0	0	4	1	4	1	3	3	2	3	3	3	3	3			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr6:131222222G>T	ENST00000337057.3	-	7	1209	c.1028C>A	c.(1027-1029)gCt>gAt	p.A343D	EPB41L2_ENST00000530481.1_Missense_Mutation_p.A343D|EPB41L2_ENST00000392427.3_Missense_Mutation_p.A343D|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A343D|EPB41L2_ENST00000527659.1_Missense_Mutation_p.A343D|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000445890.2_Missense_Mutation_p.A343D|EPB41L2_ENST00000525193.1_Missense_Mutation_p.A343D|EPB41L2_ENST00000525271.1_Missense_Mutation_p.A343D|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A343D|EPB41L2_ENST00000528282.1_Missense_Mutation_p.A343D|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A343D	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	343	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ACCAAGTTCAGCCTGCAGGGT	0.542																																					p.A343D													.	.			0			c.C1028A												160	148	152					6																	131222222		2203	4300	6503	SO:0001583	missense	2037	exon7			AGTTCAGCCTGCA	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1028C>A	6.37:g.131222222G>T	ENSP00000338481:p.Ala343Asp		126	0	0		116	0.04	5	NM_001252660	59	0	0	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181868	0.94885	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.33	5.33	0.75918	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	0.91815	0.7410	M	0.92923	3.36	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;0.999;1.0;0.999	D	0.93148	0.6547	10	0.87932	D	0	.	19.3931	0.94592	0.0:0.0:1.0:0.0	.	343;343;343;343;343	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	D	343	ENSP00000434308:A343D;ENSP00000434576:A343D;ENSP00000402041:A343D;ENSP00000338481:A343D;ENSP00000376222:A343D;ENSP00000357110:A343D;ENSP00000436348:A343D;ENSP00000432803:A343D;ENSP00000431988:A343D;ENSP00000431647:A343D;ENSP00000436641:A343D	ENSP00000338481:A343D	A	-	2	0	EPB41L2	131263915	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.054000	0.57434	2.669000	0.90835	0.655000	0.94253	GCT			0.542	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042204.3				T	131222222	G	T	131222222	3	4	120	1	0	0	0	0	1	0	0	0	5160	971	34	2	2041	2	EPB41L2	6	131222222	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		131222222	39892845	18	8962											
HIVEP2	3097	mdanderson.org	37	chr6	143092507	143092507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggcagcacagcaggCgggccatggtgccacccgga	10	2	17	12	2	0	1	0	0	0	1	0	3	0	3	3	6	3	3	3	6	0	0	rs372386907	byFrequency	TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr6:143092507C>T	ENST00000367604.1	-	4	4008	c.3369G>A	c.(3367-3369)ccG>ccA	p.P1123P	HIVEP2_ENST00000367603.2_Silent_p.P1123P|HIVEP2_ENST00000012134.2_Silent_p.P1123P			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCACAGCAGGCGGGCCATGGT	0.667													C|||	2	0.000399361	0.0015	0	5008	,	,		17673	0		0	False		,,,				2504	0				p.P1123P	Esophageal Squamous(107;843 1510 13293 16805 42198)												.	.			0			c.G3369A							C		3,4131		0,3,2064	31	37	35		3369	-6.6	0	6		35	2,8410		0,2,4204	no	coding-synonymous	HIVEP2	NM_006734.3		0,5,6268	TT,TC,CC		0.0238,0.0726,0.0399		1123/2447	143092507	5,12541	2067	4206	6273	SO:0001819	synonymous_variant	3097	exon5			AGCAGGCGGGCCA	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3369G>A	6.37:g.143092507C>T			34	0	0		43	0.07	3	NM_006734	2	0	0	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																					0.667	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042495.1				T	143092507	C	T	143092507	2	4	120	1	0	0	0	0	0	0	0	1	7202	755	27	1		1	HIVEP2	6	143092507	Silent	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	11870285	143092507	28022560	19	8963											
NPC1L1	29881	broad.mit.edu	37	chr7	44575925	44575925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgcatttcctctaagaagGcctcctcccacagcttggcc	7	10	7	17	1	1	1	0	0	1	1	5	1	4	1	5	2	1	2	5	2	2	3			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr7:44575925G>A	ENST00000289547.4	-	4	1839	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V	NPC1L1_ENST00000423141.1_Missense_Mutation_p.A595V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A595V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A595V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	595					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)	CTCTAAGAAGGCCTCCTCCCA	0.612																																					p.A595V													.	NPC1L1	141		0			c.C1784T												75	76	76					7																	44575925		2203	4300	6503	SO:0001583	missense	29881	exon4			AAGAAGGCCTCCT		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.1784C>T	7.37:g.44575925G>A	ENSP00000289547:p.Ala595Val		84	0	0		72	0.06	4	NM_001101648	0		0	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	7.229	0.598860	0.13939	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.94046	-3.26;-3.26;-3.34;-2.05	4.11	1.05	0.20165	.	0.582024	0.17409	N	0.175248	D	0.87692	0.6241	L	0.41632	1.29	0.09310	N	0.999999	B;P;B;P	0.40578	0.017;0.664;0.007;0.722	B;B;B;B	0.38500	0.03;0.275;0.018;0.261	T	0.77552	-0.2545	10	0.30854	T	0.27	-4.2614	8.5746	0.33590	0.0:0.5968:0.2856:0.1176	.	595;595;595;595	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	V	595	ENSP00000289547:A595V;ENSP00000370552:A595V;ENSP00000438033:A595V;ENSP00000404670:A595V	ENSP00000289547:A595V	A	-	2	0	NPC1L1	44542450	0.712000	0.27916	0.011000	0.14972	0.147000	0.21601	0.470000	0.22084	0.075000	0.16796	0.298000	0.19748	GCC			0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251256.1		NM_013389		A	44575925	G	A	44575925	3	1	120	1	0	0	0	0	1	0	0	0	10588	1203	42	2	2363	2	NPC1L1	7	44575925	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		44575925	114562738	20	8964											
DTX2	113878	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	76112033	76112033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcaactacaccacccaCacgcagaccaacaagacttc	15	5	4	17	1	1	2	1	0	0	2	2	2	1	2	3	0	3	1	3	0	4	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr7:76112033C>T	ENST00000324432.5	+	5	987	c.477C>T	c.(475-477)caC>caT	p.H159H	DTX2_ENST00000430490.2_Silent_p.H159H|DTX2_ENST00000413936.2_Silent_p.H159H|DTX2_ENST00000307569.8_Silent_p.H159H|DTX2_ENST00000446820.2_Silent_p.H159H|DTX2_ENST00000446600.1_Silent_p.H68H	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	159	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACACCACCCACACGCAGACCA	0.642																																					p.H159H													.	.			0			c.C477T												58	47	51					7																	76112033		2203	4300	6503	SO:0001819	synonymous_variant	113878	exon2			CACCCACACGCAG		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.477C>T	7.37:g.76112033C>T			315	0	0		298	0.18	55	NM_001102596	34	0.09	3	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	CCDS5587.1																																																																																					0.642	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000253104.2				T	76112033	C	T	76112033	2	4	120	1	0	0	0	0	0	0	0	1	4799	477	17	3		3	DTX2	7	76112033	Silent	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	31536108	76112033	83026630	21	8965											
PEX1	5189	mdanderson.org	37	chr7	92138651	92138651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataacttcttaccccaaagaGctcagctttaaaaaaggaag	17	9	6	9	0	2	1	1	0	1	1	2	2	2	2	2	1	4	2	2	1	7	5			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr7:92138651G>T	ENST00000248633.4	-	9	1757	c.1662C>A	c.(1660-1662)agC>agA	p.S554R	PEX1_ENST00000428214.1_Missense_Mutation_p.S554R|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.S232R	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	554					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)			ACCCCAAAGAGCTCAGCTTTA	0.328																																					p.S554R													.	.			0			c.C1662A												66	67	67					7																	92138651		2203	4299	6502	SO:0001583	missense	5189	exon9			CAAAGAGCTCAGC	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.1662C>A	7.37:g.92138651G>T	ENSP00000248633:p.Ser554Arg		61	0	0		72	0.06	4	NM_000466	8	0	0	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515548	0.27123	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.94931	-3.41;-3.46;-3.56	5.95	4.06	0.47325	.	0.479940	0.26753	N	0.022674	D	0.88596	0.6479	L	0.34521	1.04	0.80722	D	1	B;B;B	0.24426	0.103;0.009;0.004	B;B;B	0.16289	0.015;0.004;0.006	D	0.83986	0.0335	10	0.33940	T	0.23	-9.7904	7.767	0.28986	0.2728:0.0:0.7272:0.0	.	232;346;554	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	R	232;554;554;554	ENSP00000410438:S232R;ENSP00000248633:S554R;ENSP00000394413:S554R	ENSP00000248633:S554R	S	-	3	2	PEX1	91976587	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.594000	0.24014	1.438000	0.47492	0.491000	0.48974	AGC			0.328	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254066.3		NM_000466		T	92138651	G	T	92138651	3	4	120	1	0	0	0	0	1	0	0	0	11752	962	34	2	2253	2	PEX1	7	92138651	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	16026618	92138651	67000012	22	8966											
GRM8	2918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	126249528	126249528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcatctccgttttcattaAaagtgacaggagtgccagca	12	10	10	9	1	2	1	1	1	1	0	3	3	2	2	2	1	3	3	2	1	2	3			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr7:126249528A>G	ENST00000339582.2	-	8	2190	c.1382T>C	c.(1381-1383)tTt>tCt	p.F461S	GRM8_ENST00000405249.1_Silent_p.L485L|GRM8_ENST00000444921.2_Missense_Mutation_p.F461S|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.F461S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	461					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTTTTCATTAAAAGTGACAGG	0.378										HNSCC(24;0.065)																											p.F461S													.	.			0			c.T1382C												116	100	106					7																	126249528		2203	4300	6503	SO:0001583	missense	2918	exon7			TCATTAAAAGTGA		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1382T>C	7.37:g.126249528A>G	ENSP00000344173:p.Phe461Ser		98	0	0		95	0.13	12	NM_000845	0		0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.809079	0.90707	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.91068	-2.78;-2.78;-2.78	5.45	5.45	0.79879	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.97110	0.852;1.0	D	0.98029	1.0375	10	0.87932	D	0	.	14.7111	0.69232	1.0:0.0:0.0:0.0	.	461;461	O00222-2;O00222	.;GRM8_HUMAN	S	461	ENSP00000344173:F461S;ENSP00000409790:F461S;ENSP00000351142:F461S	ENSP00000344173:F461S	F	-	2	0	GRM8	126036764	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.307000	0.96226	2.051000	0.60960	0.460000	0.39030	TTT			0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000059209.4				G	126249528	A	G	126249528	3	3	120	1	0	0	0	0	1	0	0	0	6818	14	1	4	1410	4	GRM8	7	126249528	Missense_Mutation	SNP	A	TCGA-XE-AAOB-01A-11D-A435-10	34110877	126249528	32889135	23	8967											
KIAA1549	57670	bcgsc.ca;mdanderson.org	37	chr7	138593755	138593755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgcaccgtgaggttataCgttccctggtggtgttttct	5	15	11	10	2	1	1	0	1	1	0	2	1	2	1	3	3	2	4	3	3	2	5	rs551289013	byFrequency	TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr7:138593755C>T	ENST00000422774.1	-	5	3306	c.3258G>A	c.(3256-3258)acG>acA	p.T1086T	KIAA1549_ENST00000242365.4_Silent_p.T1036T|KIAA1549_ENST00000440172.1_Silent_p.T1086T			Q9HCM3	K1549_HUMAN	KIAA1549	1086						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGAGGTTATACGTTCCCTGGT	0.473			O	BRAF	pilocytic astrocytoma																																p.T1086T	NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549	314		0			c.G3258A												103	101	101					7																	138593755		1932	4146	6078	SO:0001819	synonymous_variant	57670	exon5			GTTATACGTTCCC		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.3258G>A	7.37:g.138593755C>T			103	0	0		90	0.06	5	NM_020910	7	0	0	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	CCDS56513.1																																																																																					0.473	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000348092.1				T	138593755	C	T	138593755	2	4	120	1	0	0	0	0	0	0	0	1	8259	523	19	1		1	KIAA1549	7	138593755	Silent	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	12344227	138593755	20544908	24	8968											
HTR5A	3361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	154876031	154876031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggatccccttctttcTcaccgagctcatcagtcccc	5	12	6	18	1	4	0	3	0	2	0	7	2	6	1	5	1	2	2	5	1	0	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr7:154876031T>C	ENST00000287907.2	+	2	1484	c.908T>C	c.(907-909)cTc>cCc	p.L303P	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	303					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CCCTTCTTTCTCACCGAGCTC	0.597																																					p.L303P													.	.			0			c.T908C												235	193	207					7																	154876031		2203	4300	6503	SO:0001583	missense	3361	exon2			TCTTTCTCACCGA		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.908T>C	7.37:g.154876031T>C	ENSP00000287907:p.Leu303Pro		207	0	0		157	0.17	27	NM_024012	0		0	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.941077	0.73557	.	.	ENSG00000157219	ENST00000287907	T	0.74002	-0.8	4.93	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.312451	0.33591	N	0.004749	D	0.83308	0.5226	M	0.92833	3.35	0.58432	D	0.999999	P	0.37441	0.595	P	0.47941	0.562	D	0.83377	0.0010	10	0.87932	D	0	.	7.6383	0.28280	0.0:0.1079:0.0:0.8921	.	303	P47898	5HT5A_HUMAN	P	303	ENSP00000287907:L303P	ENSP00000287907:L303P	L	+	2	0	HTR5A	154506964	1.000000	0.71417	0.803000	0.32268	0.868000	0.49771	3.983000	0.56916	0.822000	0.34565	0.533000	0.62120	CTC			0.597	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322240.1		NM_024012		C	154876031	T	C	154876031	3	2	120	1	0	0	0	0	1	0	0	0	7465	1551	54	4	914	4	HTR5A	7	154876031	Missense_Mutation	SNP	T	TCGA-XE-AAOB-01A-11D-A435-10	16282276	154876031	4262632	25	8969											
CSMD1	64478	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	2944635	2944635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccctggcagagtggcgtGagggagtcccactggtacat	8	9	14	10	1	0	2	0	1	0	1	1	3	1	3	2	4	2	2	2	4	2	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr8:2944635G>A	ENST00000520002.1	-	50	8016	c.7461C>T	c.(7459-7461)ctC>ctT	p.L2487L	CSMD1_ENST00000537824.1_Silent_p.L2486L|CSMD1_ENST00000602723.1_Silent_p.L2487L|CSMD1_ENST00000400186.3_Silent_p.L2487L|CSMD1_ENST00000542608.1_Silent_p.L2486L|CSMD1_ENST00000602557.1_Silent_p.L2487L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2487	Sushi 14. {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)		AGAGTGGCGTGAGGGAGTCCC	0.468																																					p.L2486L													.	CSMD1	1469		0			c.C7458T												90	92	91					8																	2944635		2033	4184	6217	SO:0001819	synonymous_variant	64478	exon49			TGGCGTGAGGGAG			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.7461C>T	8.37:g.2944635G>A			104	0	0		87	0.06	5	NM_033225	0		0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320203	0.01320	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.81	-6.02	0.02192	.	.	.	.	.	T	0.29850	0.0746	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33803	-0.9854	4	.	.	.	.	9.6229	0.39732	0.5717:0.2967:0.1316:0.0	.	.	.	.	Y	1904	.	.	H	-	1	0	CSMD1	2932042	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.804000	0.04535	-1.515000	0.01784	0.561000	0.74099	CAC			0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225		A	2944635	G	A	2944635	2	1	120	1	0	0	0	0	0	0	0	1	3946	1277	45	3		3	CSMD1	8	2944635	Silent	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		2944635	143419387	26	8970											
CYP7A1	1581	broad.mit.edu	37	chr8	59409377	59409377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctcccgggcattgtGcgcagtcctgaacatgtgaa	8	11	11	11	2	1	2	0	2	1	0	3	2	2	2	2	1	2	3	2	1	2	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr8:59409377G>A	ENST00000301645.3	-	3	831	c.694C>T	c.(694-696)Cac>Tac	p.H232Y		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	232					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGGGCATTGTGCGCAGTCCTG	0.488									Neonatal Giant Cell Hepatitis																												p.H232Y													.	CYP7A1	76		0			c.C694T												158	158	158					8																	59409377		2203	4300	6503	SO:0001583	missense	1581	exon3	Familial Cancer Database	Neonatal Hemochromatosis	CATTGTGCGCAGT	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.694C>T	8.37:g.59409377G>A	ENSP00000301645:p.His232Tyr		157	0	0		143	0.03	4	NM_000780	0		0	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	3.367	-0.129149	0.06753	.	.	ENSG00000167910	ENST00000301645	T	0.69040	-0.37	5.74	3.94	0.45596	.	0.099897	0.64402	D	0.000001	T	0.41766	0.1173	N	0.16130	0.375	0.42311	D	0.992215	B	0.12013	0.005	B	0.09377	0.004	T	0.31110	-0.9955	10	0.05721	T	0.95	-18.1068	9.4597	0.38776	0.2125:0.0:0.7875:0.0	.	232	P22680	CP7A1_HUMAN	Y	232	ENSP00000301645:H232Y	ENSP00000301645:H232Y	H	-	1	0	CYP7A1	59571931	0.637000	0.27216	0.033000	0.17914	0.003000	0.03518	2.216000	0.42871	1.576000	0.49790	0.563000	0.77884	CAC			0.488	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378190.1		NM_000780		A	59409377	G	A	59409377	3	1	120	1	0	0	0	0	1	0	0	0	4198	1319	46	2	836	2	CYP7A1	8	59409377	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	56464742	59409377	86954645	27	8971											
BAT2L1	84726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	134343013	134343013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagaggcacccacagtgtCcccagcagtggcacagagca	13	3	12	13	0	0	3	0	0	0	3	1	3	1	3	3	2	2	4	3	2	1	0			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr9:134343013C>A	ENST00000357304.4	+	12	1839	c.1784C>A	c.(1783-1785)tCc>tAc	p.S595Y	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S595Y|PRRC2B_ENST00000405995.1_Missense_Mutation_p.S595Y	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	595							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						CCCACAGTGTCCCCAGCAGTG	0.567																																					p.S595Y													.	.			0			c.C1784A												42	47	45					9																	134343013		1969	4163	6132	SO:0001583	missense	84726	exon12			CAGTGTCCCCAGC	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.1784C>A	9.37:g.134343013C>A	ENSP00000349856:p.Ser595Tyr		75	0	0		63	0.16	10	NM_013318	27	0.04	1	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396945	0.62177	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000422467	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.76	5.76	0.90799	.	0.260034	0.19874	U	0.104136	T	0.11965	0.0291	N	0.22421	0.69	0.80722	D	1	P	0.39624	0.681	B	0.40782	0.34	T	0.04946	-1.0916	10	0.59425	D	0.04	-8.3578	18.8872	0.92383	0.0:1.0:0.0:0.0	.	595	Q5JSZ5	PRC2B_HUMAN	Y	595;595;595;135	ENSP00000384606:S595Y;ENSP00000349856:S595Y;ENSP00000398853:S595Y;ENSP00000391063:S135Y	ENSP00000349856:S595Y	S	+	2	0	PRRC2B	133332834	0.248000	0.23930	0.050000	0.19076	0.004000	0.04260	3.983000	0.56916	2.882000	0.98803	0.655000	0.94253	TCC			0.567	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding						A	134343013	C	A	134343013	3	1	120	1	0	0	0	0	1	0	0	0	1320	855	30	3	1830	3	BAT2L1	9	134343013	Missense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10		134343013	6870418	28	8972											
SNAPC4	6621	mdanderson.org	37	chr9	139272498	139272498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccttctcaggcccaggctGgggtaggggcggcttctcca	4	8	14	15	1	2	0	1	0	2	0	4	0	2	0	4	7	0	3	4	7	1	3			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr9:139272498G>T	ENST00000298532.2	-	21	4149	c.3781C>A	c.(3781-3783)Cag>Aag	p.Q1261K		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)		GGCCCAGGCTGGGGTAGGGGC	0.741																																					p.Q1261K													.	.			0			c.C3781A												4	5	4					9																	139272498		1715	3514	5229	SO:0001583	missense	6621	exon21			CAGGCTGGGGTAG	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.3781C>A	9.37:g.139272498G>T	ENSP00000298532:p.Gln1261Lys		53	0	0		38	0.08	3	NM_003086	17	0	0		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	g	0.088	-1.171865	0.01646	.	.	ENSG00000165684	ENST00000298532	T	0.21734	1.99	3.42	-1.61	0.08399	.	3.491040	0.00604	N	0.000395	T	0.14874	0.0359	L	0.43152	1.355	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.11665	-1.0578	10	0.08381	T	0.77	-1.4729	2.9495	0.05856	0.1025:0.1176:0.3895:0.3903	.	1261	Q5SXM2	SNPC4_HUMAN	K	1261	ENSP00000298532:Q1261K	ENSP00000298532:Q1261K	Q	-	1	0	SNAPC4	138392319	0.659000	0.27411	0.001000	0.08648	0.111000	0.19643	1.268000	0.33062	0.000000	0.14550	0.556000	0.70494	CAG			0.741	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055071.1		NM_003086		T	139272498	G	T	139272498	3	4	120	1	0	0	0	0	1	0	0	0	14860	1357	47	3	636	3	SNAPC4	9	139272498	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	4929485	139272498	1940933	29	8973											
KCNMA1	3778	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	79163700	79163700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatccagccgacctcggCggccactgcctcctcttttt	4	11	9	17	3	2	0	1	0	1	0	5	1	4	0	6	3	2	0	6	3	0	2	rs142858967		TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr10:79163700C>T	ENST00000286628.8	-	2	459	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	KCNMA1_ENST00000286627.5_Missense_Mutation_p.A154T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A154T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A154T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A154T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A154T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A154T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A154T	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	154					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCGACCTCGGCGGCCACTGCC	0.582													C|||	1	0.000199681	0	0	5008	,	,		15015	0		0.001	False		,,,				2504	0				p.A154T													KCNMA1_ENST00000406533,colon,adenoma,0,4	KCNMA1	370	4	0			c.G460A												62	61	61					10																	79163700		2203	4300	6503	SO:0001583	missense	3778	exon2			CCTCGGCGGCCAC	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.460G>A	10.37:g.79163700C>T	ENSP00000286628:p.Ala154Thr		81	0	0		50	0.1	5	NM_002247	2	0	0	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.63|16.63	3.176359|3.176359	0.57692|0.57692	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857|ENST00000372421	T;T;T;T;T;T;T;T;T;T|.	0.44881|.	1.01;1.01;1.01;1.01;1.01;1.01;0.91;1.01;1.01;1.01|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.183688|.	0.48767|.	D|.	0.000170|.	T|T	0.61173|0.61173	0.2326|0.2326	L|L	0.38175|0.38175	1.15|1.15	0.42198|0.42198	D|D	0.991756|0.991756	B;B;B;B;B|.	0.31290|.	0.024;0.041;0.182;0.082;0.318|.	B;B;B;B;B|.	0.26969|.	0.007;0.016;0.075;0.01;0.048|.	T|T	0.56353|0.56353	-0.7993|-0.7993	10|5	0.28530|.	T|.	0.3|.	-7.9872|-7.9872	19.0922|19.0922	0.93231|0.93231	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	154;154;154;154;154|.	B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;KCMA1_HUMAN;.;.|.	T|H	154;91;89;128;91;154;154;128;154;154;154|142	ENSP00000361517:A154T;ENSP00000361485:A91T;ENSP00000361514:A89T;ENSP00000396608:A128T;ENSP00000361520:A154T;ENSP00000286627:A154T;ENSP00000286628:A128T;ENSP00000385552:A154T;ENSP00000346321:A154T;ENSP00000385806:A154T|.	ENSP00000286627:A154T|.	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78833706|78833706	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.972000|0.972000	0.66771|0.66771	5.585000|5.585000	0.67497|0.67497	2.690000|2.690000	0.91761|0.91761	0.650000|0.650000	0.86243|0.86243	GCC|CGC			0.582	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000048885.3		NM_002247		T	79163700	C	T	79163700	3	4	120	1	0	0	0	0	1	0	0	0	8088	768	27	1	3530	1	KCNMA1	10	79163700	Missense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10		79163700	56371047	30	8974											
FRA10AC1	118924	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	95458121	95458121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtttttctttctgaaatGgtttttggagcagtaagtca	9	18	9	5	0	3	1	1	1	2	0	3	2	3	2	0	2	1	4	0	2	2	6			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr10:95458121G>T	ENST00000359204.4	-	3	307	c.110C>A	c.(109-111)cCa>cAa	p.P37Q	FRA10AC1_ENST00000371430.2_Missense_Mutation_p.P37Q|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.P37Q|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.P37Q	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	37						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TTTCTGAAATGGTTTTTGGAG	0.318																																					p.P37Q													.	FRA10AC1	68		0			c.C110A												131	124	126					10																	95458121		2203	4300	6503	SO:0001583	missense	118924	exon3			TGAAATGGTTTTT	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"chromosome 10 open reading frame 4"	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.110C>A	10.37:g.95458121G>T	ENSP00000360488:p.Pro37Gln		123	0.0081300813	1		89	0.06	5	NM_145246	20	0	0	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449203	0.84101	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.25085	1.84;1.87;1.82;1.85	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.76328	2.33	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.982;0.98	T	0.56733	-0.7930	10	0.87932	D	0	-8.507	19.5479	0.95307	0.0:0.0:1.0:0.0	.	37;37;37	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	Q	37	ENSP00000360488:P37Q;ENSP00000438405:P37Q;ENSP00000360484:P37Q;ENSP00000377660:P37Q	ENSP00000360488:P37Q	P	-	2	0	FRA10AC1	95448111	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.118000	0.89577	2.633000	0.89246	0.655000	0.94253	CCA			0.318	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049439.1		NM_145246		T	95458121	G	T	95458121	3	4	120	1	0	0	0	0	1	0	0	0	6054	1348	47	3	885	3	FRA10AC1	10	95458121	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	16294421	95458121	40076626	31	8975											
ARHGAP19	84986	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	99023294	99023294	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaaattcccctgattccaAgtcaatgtcagttccattat	11	14	6	10	0	2	2	2	2	0	0	5	2	5	2	4	0	0	1	4	0	4	4			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr10:99023294A>C	ENST00000358531.4	-	4	524	c.496T>G	c.(496-498)Ttg>Gtg	p.L166V	ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L166V|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L166V|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L157V|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L157V|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.L166V	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	166	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)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CCTGATTCCAAGTCAATGTCA	0.438																																					p.L166V													.	.			0			c.T496G												145	133	137					10																	99023294		2203	4300	6503	SO:0001583	missense	84986	exon4			ATTCCAAGTCAAT	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.496T>G	10.37:g.99023294A>C	ENSP00000351333:p.Leu166Val		145	0	0		137	0.06	8	NM_001204300	3	0	0	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	A	15.59	2.879493	0.51801	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000358308	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.87	2.31	0.28768	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.184969	0.36628	U	0.002491	T	0.16428	0.0395	L	0.52364	1.645	0.37595	D	0.920359	P;B;P	0.41313	0.514;0.426;0.745	B;B;B	0.38880	0.133;0.284;0.27	T	0.07635	-1.0762	10	0.41790	T	0.15	-5.2747	5.1844	0.15176	0.525:0.15:0.325:0.0	.	166;166;157	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	V	166;166;157;166;157;166	ENSP00000414774:L166V;ENSP00000324468:L166V;ENSP00000347526:L157V;ENSP00000351333:L166V;ENSP00000360066:L157V;ENSP00000351058:L166V	ENSP00000324468:L166V	L	-	1	2	ARHGAP19	99013284	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.893000	0.48633	0.476000	0.27440	-0.250000	0.11733	TTG			0.438	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049647.2		NM_032900		C	99023294	A	C	99023294	3	2	120	1	0	0	0	0	1	0	0	0	869	69	3	4	1024	4	ARHGAP19	10	99023294	Missense_Mutation	SNP	A	TCGA-XE-AAOB-01A-11D-A435-10	3565173	99023294	36511453	32	8976											
LRDD	55367	broad.mit.edu	37	chr11	802595	802595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catttctggaatgagggctgCcactgtgcaggggacagaca	10	8	14	9	0	1	2	0	1	1	1	1	4	1	4	1	4	2	2	1	4	1	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr11:802595C>T	ENST00000347755.5	-	5	1063	c.922G>A	c.(922-924)Gca>Aca	p.A308T	PIDD_ENST00000411829.2_Missense_Mutation_p.A308T|PIDD_ENST00000534649.1_5'Flank	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					ATGAGGGCTGCCACTGTGCAG	0.582																																					p.A308T													.	PIDD	76		0			c.G922A												59	50	53					11																	802595		2203	4297	6500	SO:0001583	missense	55367	exon5			GGGCTGCCACTGT																												ENST00000347755.5:c.922G>A	11.37:g.802595C>T	ENSP00000337797:p.Ala308Thr		223	0	0		184	0.03	5	NM_145887	29	0	0		Missense_Mutation	SNP	ENST00000347755.5	37	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	C	7.382	0.629077	0.14257	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.41065	1.1;1.01	4.01	-4.0	0.04057	.	1.948520	0.02464	N	0.086865	T	0.20088	0.0483	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.16660	-1.0395	10	0.11182	T	0.66	.	7.1982	0.25866	0.0:0.5517:0.1705:0.2779	.	308;162;308	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	T	308	ENSP00000416801:A308T;ENSP00000337797:A308T	ENSP00000337797:A308T	A	-	1	0	PIDD	792595	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.701000	0.05075	-0.667000	0.05303	-0.378000	0.06908	GCA			0.582	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257103.1				T	802595	C	T	802595	3	4	120	1	0	0	0	0	1	0	0	0	8952	739	26	2	1858	2	LRDD	11	802595	Missense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10		802595	134203921	33	8977											
PACSIN3	29763	mdanderson.org	37	chr11	47202014	47202014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcctcacctccttcaGcctcttcagccagggcttct	6	10	6	19	0	5	0	3	0	2	0	6	0	6	0	6	1	3	1	6	1	0	3			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr11:47202014G>T	ENST00000539589.1	-	5	781	c.439C>A	c.(439-441)Ctg>Atg	p.L147M	PACSIN3_ENST00000298838.6_Missense_Mutation_p.L147M	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	147	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						ACCTCCTTCAGCCTCTTCAGC	0.677																																					p.L147M													.	.			0			c.C439A												33	34	34					11																	47202014		2200	4296	6496	SO:0001583	missense	29763	exon5			CCTTCAGCCTCTT	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.439C>A	11.37:g.47202014G>T	ENSP00000440945:p.Leu147Met		38	0	0		49	0.06	3	NM_001184975	42	0	0	A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821255	0.16678	.	.	ENSG00000165912	ENST00000298838;ENST00000415232;ENST00000539589;ENST00000528462;ENST00000531226	T;T;T;T	0.46819	2.42;2.42;2.42;0.86	5.23	3.35	0.38373	.	0.064265	0.64402	D	0.000006	T	0.31827	0.0809	L	0.43152	1.355	0.53005	D	0.999961	B	0.28713	0.22	B	0.18871	0.023	T	0.11591	-1.0581	10	0.30854	T	0.27	-19.2125	4.8373	0.13471	0.238:0.0:0.5978:0.1642	.	147	Q9UKS6	PACN3_HUMAN	M	147	ENSP00000298838:L147M;ENSP00000440945:L147M;ENSP00000437252:L147M;ENSP00000434699:L147M	ENSP00000298838:L147M	L	-	1	2	PACSIN3	47158590	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	5.624000	0.67764	1.220000	0.43490	0.561000	0.74099	CTG			0.677	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391632.1		NM_016223		T	47202014	G	T	47202014	3	4	120	1	0	0	0	0	1	0	0	0	11393	962	34	2	863	2	PACSIN3	11	47202014	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	46399419	47202014	87804502	34	8978											
NDUFV1	4723	mdanderson.org	37	chr11	67377004	67377004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttacgccatgatcctcaCaagctgctggaaggctgcct	9	10	9	13	1	2	1	1	1	1	0	3	2	3	2	3	2	4	3	3	2	3	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr11:67377004C>A	ENST00000322776.6	+	4	561	c.408C>A	c.(406-408)caC>caA	p.H136Q	NDUFV1_ENST00000415352.2_Missense_Mutation_p.H129Q|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H127Q|NDUFV1_ENST00000532303.1_Missense_Mutation_p.H35Q|RP11-655M14.12_ENST00000533876.1_RNA|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	136					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)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						ATGATCCTCACAAGCTGCTGG	0.637																																					p.H136Q													NDUFV1,NS,carcinoma,0,1	NDUFV1	0	1	0			c.C408A												74	96	88					11																	67377004		2200	4294	6494	SO:0001583	missense	4723	exon4			TCCTCACAAGCTG	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.408C>A	11.37:g.67377004C>A	ENSP00000322450:p.His136Gln		36	0	0		40	0.08	3	NM_007103	314	0	0	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902410	0.72754	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	D;D;D;D;D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	4.17	4.17	0.49024	NADH:ubiquinone oxidoreductase, 51kDa subunit (1);	0.054070	0.64402	D	0.000001	D	0.96457	0.8844	M	0.93106	3.38	0.54753	D	0.999984	P;P;P;P	0.50272	0.783;0.91;0.533;0.933	P;P;P;P	0.61592	0.633;0.559;0.577;0.891	D	0.97283	0.9919	10	0.62326	D	0.03	-15.3296	15.3019	0.73958	0.0:1.0:0.0:0.0	.	35;129;127;136	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	Q	136;35;35;127;35;129;129;124;97;35	ENSP00000322450:H136Q;ENSP00000432015:H35Q;ENSP00000435202:H35Q;ENSP00000436766:H127Q;ENSP00000431751:H35Q;ENSP00000395368:H129Q;ENSP00000437267:H129Q;ENSP00000434438:H124Q;ENSP00000436936:H97Q;ENSP00000434581:H35Q	ENSP00000322450:H136Q	H	+	3	2	NDUFV1	67133580	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.069000	0.50026	2.174000	0.68829	0.555000	0.69702	CAC			0.637	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000388406.1		NM_007103		A	67377004	C	A	67377004	3	1	120	1	0	0	0	0	1	0	0	0	10316	477	17	3	422	3	NDUFV1	11	67377004	Missense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	20174990	67377004	67629512	35	8979											
MYEOV	26579	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	69063822	69063822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcctcctccaccaccTcctcctcctcctcctcatca	4	12	0	25	0	3	0	2	0	1	0	12	0	11	0	11	0	0	0	11	0	0	0			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr11:69063822T>A	ENST00000308946.3	+	3	1355	c.905T>A	c.(904-906)cTc>cAc	p.L302H	MYEOV_ENST00000441339.2_Missense_Mutation_p.L302H|MYEOV_ENST00000535407.1_Missense_Mutation_p.L244H	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	302										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		ctccaccacctcctcctcctc	0.577																																					p.L302H													.	MYEOV	42		0			c.T905A												39	35	36					11																	69063822		2198	4289	6487	SO:0001583	missense	26579	exon3			ACCACCTCCTCCT	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.905T>A	11.37:g.69063822T>A	ENSP00000308330:p.Leu302His		107	0.0093457944	1		82	0.06	5	NM_138768	5	0	0	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.704894	0.00719	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.27402	1.68;1.68;1.67	1.23	-2.46	0.06461	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	P	0.43352	0.804	B	0.34489	0.184	T	0.15263	-1.0443	9	0.87932	D	0	.	0.7984	0.01070	0.1638:0.2594:0.1641:0.4128	.	302	Q96EZ4	MYEOV_HUMAN	H	302;302;244	ENSP00000412482:L302H;ENSP00000308330:L302H;ENSP00000438100:L244H	ENSP00000308330:L302H	L	+	2	0	MYEOV	68820398	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.679000	0.05203	-3.385000	0.00174	-2.750000	0.00124	CTC			0.577	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396548.1				A	69063822	T	A	69063822	3	1	120	1	0	0	0	0	1	0	0	0	10041	1551	54	5	911	5	MYEOV	11	69063822	Missense_Mutation	SNP	T	TCGA-XE-AAOB-01A-11D-A435-10	1686818	69063822	65942694	36	8980											
TECTA	7007	mdanderson.org	37	chr11	121061449	121061449	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggaacttcaagtctggacGcttcttctcatcatgatcca	10	13	7	11	1	5	1	3	1	3	0	7	3	6	3	1	2	1	1	1	2	2	3	rs141203939	byFrequency	TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr11:121061449G>T	ENST00000392793.1	+	24	6673	c.6402G>T	c.(6400-6402)acG>acT	p.T2134T	TECTA_ENST00000264037.2_Silent_p.T2134T			O75443	TECTA_HUMAN	tectorin alpha	2134					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)		AAGTCTGGACGCTTCTTCTCA	0.388													G|||	2	0.000399361	0	0.0029	5008	,	,		15399	0		0	False		,,,				2504	0				p.T2134T													.	.			0			c.G6402T												104	94	98					11																	121061449		2203	4299	6502	SO:0001819	synonymous_variant	7007	exon23			CTGGACGCTTCTT	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.6402G>T	11.37:g.121061449G>T			88	0	0		47	0.06	3	NM_005422	1	0	0		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																			0		0.388	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313850.1		NM_005422		T	121061449	G	T	121061449	2	4	120	1	0	0	0	0	0	0	0	1	15770	1074	38	1		1	TECTA	11	121061449	Silent	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	51997627	121061449	13945067	37	8981											
UBASH3B	84959	mdanderson.org	37	chr11	122526901	122526901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacgtgctcctctccatgggGttccccagagcccgcgcgta	5	8	12	16	4	1	1	0	0	1	1	4	2	3	1	5	2	2	3	5	2	1	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr11:122526901G>A	ENST00000284273.5	+	1	519	c.144G>A	c.(142-144)ggG>ggA	p.G48G	UBASH3B_ENST00000525711.1_3'UTR	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	48	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				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)		TCTCCATGGGGTTCCCCAGAG	0.726																																					p.G48G													.	.			0			c.G144A												13	12	13					11																	122526901		2134	4218	6352	SO:0001819	synonymous_variant	84959	exon1			CATGGGGTTCCCC	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.144G>A	11.37:g.122526901G>A			69	0	0		46	0.07	3	NM_032873	12	0	0	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	CCDS31694.1																																																																																					0.726	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387499.1		NM_032873		A	122526901	G	A	122526901	2	1	120	1	0	0	0	0	0	0	0	1	16864	1248	44	3		3	UBASH3B	11	122526901	Silent	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	1465452	122526901	12479615	38	8982											
GRIN2B	2904	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	13724765	13724765	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggagagcaatgcatcaTctacacccctctggttgaac	11	9	9	12	0	4	2	2	1	2	1	4	3	4	2	2	2	4	3	2	2	3	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr12:13724765T>A	ENST00000609686.1	-	10	2353	c.2144A>T	c.(2143-2145)gAt>gTt	p.D715V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	715					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)	CAATGCATCATCTACACCCCT	0.448																																					p.D715V													.	.			0			c.A2144T												266	228	241					12																	13724765		2203	4300	6503	SO:0001583	missense	2904	exon10			GCATCATCTACAC		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.2144A>T	12.37:g.13724765T>A	ENSP00000477455:p.Asp715Val		153	0	0		238	0.09	21	NM_000834	0		0	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.228265	0.58777	.	.	ENSG00000150086	ENST00000279593	T	0.28895	1.59	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.049067	0.85682	D	0.000000	T	0.31389	0.0795	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.03933	-1.0991	10	0.51188	T	0.08	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	715	Q13224	NMDE2_HUMAN	V	715	ENSP00000279593:D715V	ENSP00000279593:D715V	D	-	2	0	GRIN2B	13616032	0.995000	0.38212	0.995000	0.50966	0.998000	0.95712	5.006000	0.63978	2.308000	0.77769	0.533000	0.62120	GAT			0.448	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268014.2				A	13724765	T	A	13724765	3	1	120	1	0	0	0	0	1	0	0	0	6795	1435	50	5	2326	5	GRIN2B	12	13724765	Missense_Mutation	SNP	T	TCGA-XE-AAOB-01A-11D-A435-10		13724765	120127130	39	8983											
LASS5	91012	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	50529846	50529846	+	Frame_Shift_Del	DEL	G	G	-																															gtgatgcacaaacatgatcaGgaagtcctaggaaggaatgg																										TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr12:50529846delG	ENST00000317551.6	-	7	767	c.643delC	c.(643-645)ctgfs	p.L215fs	CERS5_ENST00000422340.2_Frame_Shift_Del_p.L157fs	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	215	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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AACATGATCAGGAAGTCCTAG	0.448																																					p.L215fs													.	.			0			c.644delT												110	107	108					12																	50529846		2203	4300	6503	SO:0001589	frameshift_variant	91012	exon7			TGATCAGGAAGTC		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"Homeoboxes / CERS class"	23749	protein-coding gene	gene with protein product		615335	"LAG1 longevity assurance homolog 5 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 5"	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.643delC	12.37:g.50529846delG	ENSP00000325485:p.Leu215fs		62	0	0		83	0.17	14	NM_147190	56	0	0	B4DV54	Frame_Shift_Del	DEL	ENST00000317551.6	37	CCDS8801.1																																																																																					0.448	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000406069.3		NM_147190		-	50529846	G	-	50529846	7	5	120	1	0	1	0	1	0	0	0	0	8657	991	35	0	551	0	LASS5	12	50529846	Frame_Shift_Del	DEL	G	TCGA-XE-AAOB-01A-11D-A435-10	36805081	50529846	83322049	40	8984											
ZIC2	7546	mdanderson.org	37	chr13	100635045	100635045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaccaccaccccggtgccTttttccgctatatgcggcag	7	9	8	17	3	0	0	0	0	0	0	1	0	1	0	7	2	2	2	7	2	2	4			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr13:100635045T>C	ENST00000376335.3	+	1	1020	c.727T>C	c.(727-729)Ttt>Ctt	p.F243L		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	243	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				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)					ccCCGGTGCCTTTTTCCGCTA	0.562																																					p.F243L	Pancreas(97;119 1522 31925 44771 48764)												.	.			0			c.T727C												52	58	56					13																	100635045		2203	4300	6503	SO:0001583	missense	7546	exon1			GGTGCCTTTTTCC	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.727T>C	13.37:g.100635045T>C	ENSP00000365514:p.Phe243Leu		31	0	0		24	0.13	3	NM_007129	2	0	0	Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633149	0.87660	.	.	ENSG00000043355	ENST00000376335	T	0.43688	0.94	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	M	0.77103	2.36	0.80722	D	1	P	0.35612	0.512	B	0.37198	0.243	T	0.57412	-0.7816	10	0.87932	D	0	.	14.0708	0.64858	0.0:0.0:0.0:1.0	.	243	O95409	ZIC2_HUMAN	L	243	ENSP00000365514:F243L	ENSP00000365514:F243L	F	+	1	0	ZIC2	99433046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.482000	0.81143	2.064000	0.61679	0.459000	0.35465	TTT			0.562	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045618.2		NM_007129		C	100635045	T	C	100635045	3	2	120	1	0	0	0	0	1	0	0	0	17702	1609	56	4	729	4	ZIC2	13	100635045	Missense_Mutation	SNP	T	TCGA-XE-AAOB-01A-11D-A435-10		100635045	14534833	41	8985											
NKX2-8	26257	mdanderson.org	37	chr14	37050384	37050384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaggtcaggcgactccGccgcccctggagcgcgagcg	5	4	15	17	6	1	0	1	0	0	0	2	3	2	1	5	3	3	0	5	3	0	0			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr14:37050384G>A	ENST00000258829.5	-	2	660	c.443C>T	c.(442-444)gCg>gTg	p.A148V		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	148					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		AGGCGACTCCGCCGCCCCTGG	0.701																																					p.A148V													.	.			0			c.C443T												9	10	9					14																	37050384		2186	4273	6459	SO:0001583	missense	26257	exon2			GACTCCGCCGCCC		CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"Homeoboxes / ANTP class : NKL subclass"	16364	protein-coding gene	gene with protein product		603245	"NK-2 homolog H (Drosophila)", "NK2 transcription factor related, locus 8 (Drosophila)"	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.443C>T	14.37:g.37050384G>A	ENSP00000258829:p.Ala148Val		12	0	0		17	0.12	2	NM_014360	0		0	Q8IUT7	Missense_Mutation	SNP	ENST00000258829.5	37	CCDS9660.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343691	0.24339	.	.	ENSG00000136327	ENST00000258829	D	0.91295	-2.82	4.22	3.32	0.38043	.	0.532616	0.19005	N	0.125232	D	0.84924	0.5580	L	0.44542	1.39	0.09310	N	1	B	0.18863	0.031	B	0.08055	0.003	T	0.69910	-0.5017	10	0.21014	T	0.42	.	11.2755	0.49163	0.0898:0.0:0.9102:0.0	.	148	O15522	NKX28_HUMAN	V	148	ENSP00000258829:A148V	ENSP00000258829:A148V	A	-	2	0	NKX2-8	36120135	0.373000	0.25073	0.002000	0.10522	0.074000	0.17049	0.731000	0.26058	0.974000	0.38366	0.561000	0.74099	GCG			0.701	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071844.6				A	37050384	G	A	37050384	3	1	120	1	0	0	0	0	1	0	0	0	10471	1087	38	1	280	1	NKX2-8	14	37050384	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		37050384	70299156	42	8986											
POLG	5428	mdanderson.org	37	chr15	89876841	89876841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgttgctgctgctgctGctgctgctgctgctgctgcc	0	14	13	14	0	0	0	0	0	0	0	0	0	0	0	1	0	12	12	1	0	0	1	rs200132079		TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr15:89876841G>T	ENST00000268124.5	-	2	478	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	POLG_ENST00000442287.2_Missense_Mutation_p.Q49K|RP11-217B1.2_ENST00000562356.1_RNA|RP11-217B1.2_ENST00000569473.1_RNA|POLG_ENST00000525806.1_5'Flank	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	49	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			tgctgctgctgctgctgctgc	0.706								DNA polymerases (catalytic subunits)																													p.Q49K	Colon(73;648 1203 11348 18386 27782)												.	.			0			c.C145A												9	10	10					15																	89876841		2128	4169	6297	SO:0001583	missense	5428	exon2			GCTGCTGCTGCTG	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.145C>A	15.37:g.89876841G>T	ENSP00000268124:p.Gln49Lys		17	0	0		18	0.11	2	NM_001126131	7	0	0	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	g	0.029	-1.349012	0.01266	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.95980	-3.87;-3.87	0.355	0.355	0.16069	.	7.913470	0.02615	U	0.102578	D	0.86944	0.6055	N	0.08118	0	0.09310	N	1	B	0.26041	0.14	B	0.22880	0.042	T	0.81908	-0.0717	9	0.05959	T	0.93	.	.	.	.	.	49	P54098	DPOG1_HUMAN	K	49	ENSP00000268124:Q49K;ENSP00000399851:Q49K	ENSP00000268124:Q49K	Q	-	1	0	POLG	87677845	0.007000	0.16637	0.009000	0.14445	0.010000	0.07245	0.089000	0.15002	0.458000	0.26988	0.089000	0.15464	CAG			0.706	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000312854.2		NM_002693		T	89876841	G	T	89876841	3	4	120	1	0	0	0	0	1	0	0	0	12217	1328	46	2	3662	2	POLG	15	89876841	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		89876841	12654551	43	8987											
MSLN	10232	mdanderson.org	37	chr16	815169	815169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgggaggcctggcttgCgacctgcctgggcgctttgt	2	11	16	12	2	1	0	0	0	1	0	1	2	1	1	3	4	2	3	3	4	0	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr16:815169C>T	ENST00000382862.3	+	8	665	c.570C>T	c.(568-570)tgC>tgT	p.C190C	MSLN_ENST00000563941.1_Silent_p.C190C|MSLN_ENST00000545450.2_Silent_p.C190C|MSLN_ENST00000566549.1_Silent_p.C190C	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	190					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCTGGCTTGCGACCTGCCTG	0.692																																					p.C190C													MSLN_ENST00000446427,NS,carcinoma,0,2	MSLN_ENST00000446427	0	2	0			c.C570T												20	18	18					16																	815169		2162	4272	6434	SO:0001819	synonymous_variant	10232	exon9			GGCTTGCGACCTG	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.570C>T	16.37:g.815169C>T			23	0	0		24	0.08	2	NM_005823	1	0	0	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	CCDS32356.1																																																																																					0.692	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000109253.2				T	815169	C	T	815169	2	4	120	1	0	0	0	0	0	0	0	1	9897	776	27	1		1	MSLN	16	815169	Silent	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10		815169	89539584	44	8988											
ARMC5	79798	mdanderson.org	37	chr16	31476521	31476521	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattggttcagcactgtcctGactgctccccaccagcacgc	7	9	8	17	1	1	1	1	1	0	0	3	1	3	1	4	1	3	4	4	1	0	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr16:31476521G>C	ENST00000563544.1	+	5	2410				ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000457010.2_Nonstop_Mutation_p.*726S|ARMC5_ENST00000408912.3_Intron			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCACTGTCCTGACTGCTCCCC	0.627																																					p.X726S													.	.			0			c.G2177C												36	40	39					16																	31476521		2178	4284	6462	SO:0001627	intron_variant	79798	exon4			TGTCCTGACTGCT	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1864+313G>C	16.37:g.31476521G>C			60	0	0		60	0.05	3	NM_024742	1	0	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	1.732	-0.493862	0.04322	.	.	ENSG00000140691	ENST00000457010	.	.	.	3.48	0.326	0.15908	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5218	0.11962	0.2097:0.0:0.6026:0.1876	.	.	.	.	S	726	.	.	X	+	2	2	ARMC5	31384022	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.322000	0.19576	0.108000	0.17862	-0.350000	0.07774	TGA			0.627	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432847.1		NM_024742		C	31476521	G	C	31476521	1	2	120	0	1	0	0	0	0	0	0	0	954	1285	45	5		5	ARMC5	16	31476521	Intron	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	30661352	31476521	58878232	45	8989											
HEATR3	55027	mdanderson.org	37	chr16	50112858	50112858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggatgatttgattgaaGatgatgaaatggaaggaatt	15	12	14	0	0	0	6	0	5	0	1	0	9	0	9	0	4	0	0	0	4	4	3			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr16:50112858G>T	ENST00000299192.7	+	7	1161	c.970G>T	c.(970-972)Gat>Tat	p.D324Y	HEATR3_ENST00000285767.4_Missense_Mutation_p.D238Y	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	324										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGATTGAAGATGATGAAAT	0.368																																					p.D324Y													.	.			0			c.G970T												81	86	84					16																	50112858		2198	4300	6498	SO:0001583	missense	55027	exon7			ATTGAAGATGATG	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.970G>T	16.37:g.50112858G>T	ENSP00000299192:p.Asp324Tyr		42	0	0		37	0.08	3	NM_182922	16	0	0	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919835	0.73098	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.30714	1.52;1.52	5.54	4.59	0.56863	Armadillo-type fold (1);	0.248172	0.45606	D	0.000358	T	0.48537	0.1505	M	0.67953	2.075	0.48452	D	0.99965	D;D	0.69078	0.994;0.997	P;P	0.58172	0.834;0.819	T	0.53732	-0.8397	10	0.72032	D	0.01	.	14.4479	0.67364	0.0707:0.0:0.9293:0.0	.	238;324	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	Y	238;324	ENSP00000285767:D238Y;ENSP00000299192:D324Y	ENSP00000285767:D238Y	D	+	1	0	HEATR3	48670359	1.000000	0.71417	0.698000	0.30274	0.988000	0.76386	5.735000	0.68587	1.477000	0.48234	0.551000	0.68910	GAT			0.368	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256880.2		NM_182922		T	50112858	G	T	50112858	3	4	120	1	0	0	0	0	1	0	0	0	7044	942	33	3	996	3	HEATR3	16	50112858	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	18636337	50112858	40241895	46	8990											
PHF23	79142	broad.mit.edu;bcgsc.ca	37	chr17	7139505	7139506	+	Frame_Shift_Del	DEL	AG	AG	-																															tcctcttcctcctcctcttcAgagtctgtatcactgggggg																										TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr17:7139505_7139506delAG	ENST00000320316.3	-	4	966_967	c.740_741delCT	c.(739-741)tctfs	p.S247fs	DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000576955.1_Frame_Shift_Del_p.S117fs|PHF23_ENST00000454255.2_Frame_Shift_Del_p.S243fs|PHF23_ENST00000571362.1_Frame_Shift_Del_p.S180fs	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	247							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						cctcctcttcAGAGTCTGTATC	0.569																																					p.247_247del													.	PHF23	38		0			c.740_741del																																									SO:0001589	frameshift_variant	79142	exon4			CTCTTCAGAGTCT	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.740_741delCT	17.37:g.7139507_7139508delAG	ENSP00000322579:p.Ser247fs		52	0	0		48	0.19	9	NM_024297	134	0.01	1	A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Frame_Shift_Del	DEL	ENST00000320316.3	37	CCDS42250.1																																																																																					0.569	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440047.1		NM_024297		-	7139506	AG	-	7139505	7	5	120	1	0	1	0	1	0	0	0	0	11852	175	7	0	478	0	PHF23	17	7139505	Frame_Shift_Del	DEL	AG	TCGA-XE-AAOB-01A-11D-A435-10		7139505	74055705	47	8991											
KDM6B	23135	mdanderson.org	37	chr17	7756632	7756632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcagcgcaggcctgcaGggcgtggtggtgctggagca	5	5	19	12	4	0	0	0	0	0	0	0	1	0	1	2	5	4	5	2	5	0	0			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr17:7756632G>T	ENST00000448097.2	+	22	5173	c.4842G>T	c.(4840-4842)caG>caT	p.Q1614H	TMEM88_ENST00000574668.1_5'Flank|KDM6B_ENST00000254846.5_Missense_Mutation_p.Q1614H|TMEM88_ENST00000301599.6_5'Flank			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1614					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						CAGGCCTGCAGGGCGTGGTGG	0.672																																					p.Q1614H													.	.			0			c.G4842T												20	22	21					17																	7756632		2198	4294	6492	SO:0001583	missense	23135	exon22			CCTGCAGGGCGTG	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.4842G>T	17.37:g.7756632G>T	ENSP00000412513:p.Gln1614His		39	0	0		24	0.08	2	NM_001080424	18	0	0	C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	G	11.72	1.721555	0.30503	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32515	1.45;1.45	4.17	4.17	0.49024	.	0.737125	0.12862	N	0.433069	T	0.26882	0.0658	L	0.34521	1.04	0.35294	D	0.782443	B;B	0.20052	0.016;0.041	B;B	0.23419	0.046;0.026	T	0.28554	-1.0040	10	0.56958	D	0.05	-6.4157	12.6829	0.56932	0.0:0.1683:0.8317:0.0	.	1614;1614	O15054;O15054-1	KDM6B_HUMAN;.	H	1614	ENSP00000254846:Q1614H;ENSP00000412513:Q1614H	ENSP00000254846:Q1614H	Q	+	3	2	KDM6B	7697357	0.416000	0.25424	1.000000	0.80357	0.935000	0.57460	0.258000	0.18387	2.248000	0.74166	0.462000	0.41574	CAG			0.672	KDM6B-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000440248.1		XM_043272		T	7756632	G	T	7756632	3	4	120	1	0	0	0	0	1	0	0	0	8153	991	35	3	4916	3	KDM6B	17	7756632	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	617127	7756632	73438578	48	8992											
MYH10	4628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	8439201	8439201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttttatctgtggctttagGgaaccagcattcttcatcca	8	15	9	9	0	3	0	1	0	2	0	4	1	4	1	2	3	2	3	2	3	3	6			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr17:8439201G>A	ENST00000269243.4	-	14	1762	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	MYH10_ENST00000379980.4_Missense_Mutation_p.P558S|MYH10_ENST00000396239.1_Missense_Mutation_p.P542S|MYH10_ENST00000360416.3_Missense_Mutation_p.P552S	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	542	Myosin motor.				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						GTGGCTTTAGGGAACCAGCAT	0.413																																					p.P552S													.	.			0			c.C1654T												82	80	81					17																	8439201		2203	4300	6503	SO:0001583	missense	4628	exon15			CTTTAGGGAACCA	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.1624C>T	17.37:g.8439201G>A	ENSP00000269243:p.Pro542Ser		143	0	0		125	0.14	17	NM_001256012	6	0.33	2	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138767	0.94560	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.96073	-0.87;-0.87;-3.9;-0.87	5.42	5.42	0.78866	Myosin head, motor domain (2);	0.115170	0.64402	D	0.000010	D	0.98286	0.9432	M	0.91090	3.175	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	0.98874	1.0767	10	0.87932	D	0	.	19.4084	0.94658	0.0:0.0:1.0:0.0	.	551;552;542	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	S	542;552;542;558	ENSP00000269243:P542S;ENSP00000353590:P552S;ENSP00000379539:P542S;ENSP00000369315:P558S	ENSP00000269243:P542S	P	-	1	0	MYH10	8379926	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.820000	0.97059	0.650000	0.86243	CCT			0.413	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000227001.2				A	8439201	G	A	8439201	3	1	120	1	0	0	0	0	1	0	0	0	10046	1232	43	3	4418	3	MYH10	17	8439201	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	682569	8439201	72756009	49	8993											
ABHD15	116236	mdanderson.org	37	chr17	27893542	27893542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggcgctggtgatccggCggccccgaacacaaggtcct	6	5	13	17	5	0	1	0	1	0	0	2	2	2	1	6	5	1	1	6	5	2	0			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr17:27893542C>T	ENST00000307201.4	-	1	613	c.443G>A	c.(442-444)cGc>cAc	p.R148H	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_3'UTR|TP53I13_ENST00000301057.7_5'Flank	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	148						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGTGATCCGGCGGCCCCGAAC	0.692																																					p.R148H													.	.			0			c.G443A												24	22	23					17																	27893542		2201	4294	6495	SO:0001583	missense	116236	exon1			ATCCGGCGGCCCC	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.443G>A	17.37:g.27893542C>T	ENSP00000302657:p.Arg148His		45	0	0		57	0.05	3	NM_198147	9	0	0	Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458359	0.26248	.	.	ENSG00000168792	ENST00000307201	T	0.18810	2.19	4.34	2.22	0.28083	.	0.066930	0.56097	D	0.000038	T	0.11665	0.0284	L	0.29908	0.895	0.19945	N	0.999948	D	0.55385	0.971	B	0.42062	0.374	T	0.14364	-1.0475	10	0.22706	T	0.39	-21.6941	4.5164	0.11937	0.1442:0.6019:0.1577:0.0962	.	148	Q6UXT9	ABH15_HUMAN	H	148	ENSP00000302657:R148H	ENSP00000302657:R148H	R	-	2	0	ABHD15	24917668	0.005000	0.15991	0.644000	0.29465	0.133000	0.20885	0.783000	0.26802	1.047000	0.40274	0.563000	0.77884	CGC			0.692	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447796.2		NM_198147		T	27893542	C	T	27893542	3	4	120	1	0	0	0	0	1	0	0	0	81	768	27	1	971	1	ABHD15	17	27893542	Missense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	19454341	27893542	53301668	50	8994											
BAHCC1	57597	mdanderson.org	37	chr17	79414838	79414838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagcgagctggctgacctgGcaatccagcggcagaggagt	9	6	15	11	2	1	2	1	1	0	1	2	4	2	3	2	4	3	4	2	4	1	0			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr17:79414838G>A	ENST00000307745.7	+	15	3940	c.3940G>A	c.(3940-3942)Gca>Aca	p.A1314T																								GGCTGACCTGGCAATCCAGCG	0.677																																					.													.	.			0			.												12	13	12					17																	79414838		1967	4135	6102	SO:0001583	missense	57597	.			GACCTGGCAATCC																												ENST00000307745.7:c.3940G>A	17.37:g.79414838G>A	ENSP00000303486:p.Ala1314Thr		53	0	0		50	0.08	4	.	5	0	0		Missense_Mutation	SNP	ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	g	15.27	2.783491	0.49891	.	.	ENSG00000171282	ENST00000307745	T	0.24538	1.85	4.07	4.07	0.47477	.	0.471941	0.16627	N	0.206204	T	0.22205	0.0535	L	0.29908	0.895	0.28602	N	0.909122	B;B	0.29037	0.089;0.231	B;B	0.29942	0.05;0.109	T	0.18147	-1.0346	10	0.59425	D	0.04	.	15.1818	0.72965	0.0:0.0:1.0:0.0	.	1314;1314	Q9P281;F8WBW8	BAHC1_HUMAN;.	T	1314	ENSP00000303486:A1314T	ENSP00000303486:A1314T	A	+	1	0	AC110285.1	77029433	1.000000	0.71417	0.966000	0.40874	0.083000	0.17756	8.259000	0.89855	2.079000	0.62486	0.457000	0.33378	GCA			0.677	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding						A	79414838	G	A	79414838	3	1	120	1	0	0	0	0	1	0	0	0	1296	1203	42	2	3813	2	BAHCC1	17	79414838	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	51521296	79414838	1780372	51	8995											
ONECUT2	9480	mdanderson.org	37	chr18	55103650	55103650	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgccacgccgctgggcaaCgggctaggcggcctccacaa	7	3	14	17	5	0	0	0	0	0	0	1	0	1	0	5	4	1	3	5	4	3	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr18:55103650C>T	ENST00000491143.2	+	1	734	c.702C>T	c.(700-702)aaC>aaT	p.N234N	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	234					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCTGGGCAACGGGCTAGGCG	0.672																																					p.N234N													.	.			0			c.C702T												20	25	23					18																	55103650		2107	4203	6310	SO:0001819	synonymous_variant	9480	exon1			GGGCAACGGGCTA	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.702C>T	18.37:g.55103650C>T			38	0	0		43	0.07	3	NM_004852	0		0		Silent	SNP	ENST00000491143.2	37	CCDS42440.1																																																																																					0.672	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357264.3				T	55103650	C	T	55103650	2	4	120	1	0	0	0	0	0	0	0	1	10886	535	19	1		1	ONECUT2	18	55103650	Silent	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10		55103650	22973598	52	8996											
VAV1	7409	mdanderson.org	37	chr19	6826646	6826646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtctatggccgctactGcagccaggtggagtcagcca	7	8	12	14	2	2	0	1	0	1	0	3	1	2	1	4	3	4	2	4	3	2	2			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr19:6826646G>A	ENST00000602142.1	+	9	933	c.851G>A	c.(850-852)tGc>tAc	p.C284Y	VAV1_ENST00000596764.1_Missense_Mutation_p.C252Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C187Y|VAV1_ENST00000304076.2_Missense_Mutation_p.C284Y|VAV1_ENST00000599806.1_Missense_Mutation_p.C229Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	284	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGCCGCTACTGCAGCCAGGTG	0.652																																					p.C284Y													.	.			0			c.G851A												61	47	52					19																	6826646		2167	4261	6428	SO:0001583	missense	7409	exon9			GCTACTGCAGCCA		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.851G>A	19.37:g.6826646G>A	ENSP00000472929:p.Cys284Tyr		38	0	0		32	0.09	3	NM_001258206	43	0	0	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479596	0.84747	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.67345	-0.26;-0.26	5.26	5.26	0.73747	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.87573	0.6211	H	0.95850	3.73	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	0.91442	0.5174	10	0.87932	D	0	.	16.3535	0.83227	0.0:0.0:1.0:0.0	.	187;284;229;284	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Y	284;187	ENSP00000302269:C284Y;ENSP00000443242:C187Y	ENSP00000302269:C284Y	C	+	2	0	VAV1	6777646	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.045000	0.93812	2.465000	0.83290	0.561000	0.74099	TGC			0.652	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458475.1				A	6826646	G	A	6826646	3	1	120	1	0	0	0	0	1	0	0	0	17155	1319	46	2	885	2	VAV1	19	6826646	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		6826646	52302337	53	8997											
ZNF317	57693	mdanderson.org	37	chr19	9268706	9268706	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacacttggagcaggaggagGagccgaggacagaggagagg	13	2	19	7	1	0	2	0	0	0	2	0	9	0	7	1	7	2	1	1	7	0	1	rs200289169		TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr19:9268706G>T	ENST00000247956.6	+	5	645	c.340G>T	c.(340-342)Gag>Tag	p.E114*	ZNF317_ENST00000360385.3_Intron	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	114	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(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCAGGAGGAGGAGCCGAGGAC	0.597																																					p.E114X													.	.			0			c.G340T												42	34	37					19																	9268706		1825	3363	5188	SO:0001587	stop_gained	57693	exon5			GAGGAGGAGCCGA	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.340G>T	19.37:g.9268706G>T	ENSP00000247956:p.Glu114*		39	0	0		40	0.08	3	NM_020933	11	0	0	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Nonsense_Mutation	SNP	ENST00000247956.6	37	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618789	0.87460	.	.	ENSG00000130803	ENST00000247956	.	.	.	3.48	3.48	0.39840	.	0.409423	0.17984	N	0.155431	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-28.684	10.6705	0.45755	0.0:0.0:1.0:0.0	.	.	.	.	X	114	.	ENSP00000247956:E114X	E	+	1	0	ZNF317	9129706	0.530000	0.26330	0.901000	0.35422	0.363000	0.29612	1.861000	0.39438	1.977000	0.57605	0.591000	0.81541	GAG			0.597	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000448995.1		NM_020933		T	9268706	G	T	9268706	4	4	120	1	0	0	0	0	0	1	0	0	17858	1175	41	3	354	3	ZNF317	19	9268706	Nonsense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	2442060	9268706	49860277	54	8998											
GLT25D1	79709	mdanderson.org	37	chr19	17683358	17683358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgccattgcgcgcccacaGcaccctccaggatgaggccg	8	5	12	16	3	0	1	0	1	0	0	1	2	1	2	5	2	3	1	5	2	0	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr19:17683358G>A	ENST00000252599.4	+	6	1016	c.896G>A	c.(895-897)aGc>aAc	p.S299N		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	299					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CGCGCCCACAGCACCCTCCAG	0.582																																					p.S299N													.	.			0			c.G896A												157	122	134					19																	17683358		2203	4300	6503	SO:0001583	missense	79709	exon6			CCCACAGCACCCT	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.896G>A	19.37:g.17683358G>A	ENSP00000252599:p.Ser299Asn		45	0	0		36	0.08	3	NM_024656	134	0	0	Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556382	0.27827	.	.	ENSG00000130309	ENST00000252599	T	0.24350	1.86	5.35	5.35	0.76521	.	0.244563	0.46758	D	0.000277	T	0.20618	0.0496	N	0.25890	0.77	0.44890	D	0.997903	B	0.06786	0.001	B	0.10450	0.005	T	0.03112	-1.1071	10	0.29301	T	0.29	-26.8539	16.5483	0.84457	0.0:0.0:1.0:0.0	.	299	Q8NBJ5	GT251_HUMAN	N	299	ENSP00000252599:S299N	ENSP00000252599:S299N	S	+	2	0	GLT25D1	17544358	1.000000	0.71417	0.998000	0.56505	0.340000	0.28889	2.558000	0.45879	2.494000	0.84150	0.655000	0.94253	AGC			0.582	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464216.1		NM_024656		A	17683358	G	A	17683358	3	1	120	1	0	0	0	0	1	0	0	0	6480	971	34	2	918	2	GLT25D1	19	17683358	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	8414652	17683358	41445625	55	8999											
MAST3	23031	mdanderson.org	37	chr19	18241320	18241320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggccgtctacctggtgCggcaccgtgacacacggcag	7	5	14	15	4	1	1	0	1	1	0	1	1	1	1	4	4	2	2	4	4	1	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr19:18241320C>T	ENST00000262811.6	+	13	1153	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTACCTGGTGCGGCACCGTGA	0.587																																					p.R385W													.	.			0			c.C1153T												42	40	41					19																	18241320		2200	4299	6499	SO:0001583	missense	23031	exon13			CTGGTGCGGCACC	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1153C>T	19.37:g.18241320C>T	ENSP00000262811:p.Arg385Trp		50	0	0		51	0.06	3	NM_015016	7	0	0	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877406	0.51801	.	.	ENSG00000099308	ENST00000262811	T	0.26957	1.7	4.87	3.8	0.43715	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	0.47377	0.1442	M	0.70108	2.13	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	T	0.50180	-0.8858	10	0.87932	D	0	-26.7665	11.6836	0.51472	0.2494:0.7506:0.0:0.0	.	385	O60307	MAST3_HUMAN	W	385	ENSP00000262811:R385W	ENSP00000262811:R385W	R	+	1	2	MAST3	18102320	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	1.685000	0.37659	2.244000	0.73946	0.561000	0.74099	CGG			0.587	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466526.2		XM_038150		T	18241320	C	T	18241320	3	4	120	1	0	0	0	0	1	0	0	0	9342	759	27	1	1203	1	MAST3	19	18241320	Missense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	557962	18241320	40887663	56	9000											
MEGF8	1954	mdanderson.org	37	chr19	42873740	42873740	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgaacggctcatgtgtGgagcccgaccactgccgctg	6	8	14	13	4	1	1	1	1	0	0	1	3	1	2	3	2	4	2	3	2	1	0			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr19:42873740G>T	ENST00000251268.6	+	38	6699	c.6699G>T	c.(6697-6699)gtG>gtT	p.V2233V	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Silent_p.V2166V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2233					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)				GCTCATGTGTGGAGCCCGACC	0.672																																					p.V2233V													.	.			0			c.G6699T												43	42	42					19																	42873740		2203	4299	6502	SO:0001819	synonymous_variant	1954	exon38			ATGTGTGGAGCCC	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.6699G>T	19.37:g.42873740G>T			43	0	0		34	0.09	3	NM_001271938	10	0	0	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37																																																																																						0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000463854.1		NM_001410		T	42873740	G	T	42873740	2	4	120	1	0	0	0	0	0	0	0	1	9479	1335	47	3		3	MEGF8	19	42873740	Silent	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	24632420	42873740	16255243	57	9001											
PPP2R1A	5518	mdanderson.org	37	chr19	52716240	52716240	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggcggtggaggcgtgCgtgaacatcgcccagcttct	5	9	15	12	4	1	1	0	1	1	0	2	2	1	2	1	4	4	2	1	4	1	1	rs201531933	byFrequency	TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr19:52716240C>A	ENST00000322088.6	+	6	742	c.684C>A	c.(682-684)tgC>tgA	p.C228*	PPP2R1A_ENST00000444322.2_Nonsense_Mutation_p.C173*|PPP2R1A_ENST00000462990.1_Nonsense_Mutation_p.C49*	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	228	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			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)		TGGAGGCGTGCGTGAACATCG	0.642			Mis		clear cell ovarian carcinoma																																p.C228X				Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	.	.			0			c.C684A												36	36	36					19																	52716240		2203	4300	6503	SO:0001587	stop_gained	5518	exon6			GGCGTGCGTGAAC		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.684C>A	19.37:g.52716240C>A	ENSP00000324804:p.Cys228*		37	0	0		33	0.09	3	NM_014225	321	0	0	Q13773|Q6ICQ3|Q96DH3	Nonsense_Mutation	SNP	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796232	0.90453	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	.	.	.	4.59	-9.19	0.00685	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7042	20.7588	0.99720	0.0:0.1632:0.0:0.8368	.	.	.	.	X	218;148;228;173	.	ENSP00000324804:C228X	C	+	3	2	PPP2R1A	57408052	0.007000	0.16637	0.004000	0.12327	0.934000	0.57294	-1.429000	0.02437	-3.353000	0.00180	-0.136000	0.14681	TGC			0.642	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000267967.2		NM_014225		A	52716240	C	A	52716240	4	1	120	1	0	0	0	0	0	1	0	0	12402	776	27	1	706	1	PPP2R1A	19	52716240	Nonsense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	9842500	52716240	6412743	58	9002											
DNMT3B	1789	mdanderson.org	37	chr20	31386384	31386384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctgtcatggcgtcctgCggcgccggaaggactggaac	7	6	16	12	5	1	0	1	0	0	0	2	3	2	3	2	5	3	1	2	5	2	0			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr20:31386384C>T	ENST00000328111.2	+	15	1930	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	DNMT3B_ENST00000443239.3_Missense_Mutation_p.R475W|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R517W|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R517W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R529W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R517W|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R441W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	537	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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 on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|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)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCGTCCTGCGGCGCCGGAA	0.637																																					p.R537W													DNMT3B_ENST00000201963,NS,carcinoma,0,4	DNMT3B_ENST00000201963	0	4	0			c.C1609T												42	47	45					20																	31386384		2203	4300	6503	SO:0001583	missense	1789	exon15			GTCCTGCGGCGCC		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1609C>T	20.37:g.31386384C>T	ENSP00000328547:p.Arg537Trp		66	0	0		53	0.06	3	NM_006892	430	0	0	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977312	0.53720	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.76	4.8	0.61643	Zinc finger, FYVE/PHD-type (1);	0.234553	0.43260	N	0.000583	T	0.68403	0.2997	L	0.42245	1.32	0.80722	D	1	B;B;B;B;B;B;B	0.16166	0.009;0.009;0.009;0.016;0.016;0.016;0.005	B;B;B;B;B;B;B	0.15484	0.001;0.0;0.0;0.013;0.001;0.001;0.0	T	0.66650	-0.5870	10	0.87932	D	0	-11.4462	7.4437	0.27198	0.1634:0.7485:0.0:0.088	.	441;475;236;529;517;517;537	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	W	537;517;517;475;441;517;529	ENSP00000328547:R537W;ENSP00000313397:R517W;ENSP00000337764:R517W;ENSP00000403169:R475W;ENSP00000412305:R441W;ENSP00000345105:R517W;ENSP00000201963:R529W	ENSP00000201963:R529W	R	+	1	2	DNMT3B	30850045	0.997000	0.39634	0.998000	0.56505	0.694000	0.40290	1.733000	0.38156	1.485000	0.48380	0.650000	0.86243	CGG			0.637	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078643.2		NM_006892		T	31386384	C	T	31386384	3	4	120	1	0	0	0	0	1	0	0	0	4682	759	27	1	1703	1	DNMT3B	20	31386384	Missense_Mutation	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10		31386384	31639136	59	9003											
OGFR	11054	broad.mit.edu	37	chr20	61443978	61443978	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagagcatagcaagggTgggggcagggtggacgaggg	9	3	23	6	1	0	1	0	0	0	1	0	3	0	2	1	7	2	3	1	7	2	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr20:61443978T>G	ENST00000290291.6	+	7	1036	c.1011T>G	c.(1009-1011)ggT>ggG	p.G337G	OGFR_ENST00000370461.1_Silent_p.G285G	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	337					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)					ATAGCAAGGGTGGGGGCAGGG	0.726																																					p.G337G													.	OGFR	63		0			c.T1011G																																									SO:0001819	synonymous_variant	11054	exon7			CAAGGGTGGGGGC	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.1011T>G	20.37:g.61443978T>G			53	0.0943396226	5		53	0.15	8	NM_007346	91	0.04	4	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	CCDS13504.1																																																																																					0.726	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080067.1				G	61443978	T	G	61443978	2	3	120	1	0	0	0	0	0	0	0	1	10860	1683	59	4		4	OGFR	20	61443978	Silent	SNP	T	TCGA-XE-AAOB-01A-11D-A435-10	30057594	61443978	1581542	60	9004											
TRPM2	7226	mdanderson.org	37	chr21	45825863	45825863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttctgcctccggctcatGcacatttttaccatcagtaa	8	14	6	13	1	3	0	2	0	1	0	4	0	4	0	3	1	3	4	3	1	2	5			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr21:45825863G>T	ENST00000397928.1	+	18	3178	c.2733G>T	c.(2731-2733)atG>atT	p.M911I	TRPM2_ENST00000300481.9_Missense_Mutation_p.M891I|TRPM2_ENST00000397932.2_Missense_Mutation_p.M911I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.M911I	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	911					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						TCCGGCTCATGCACATTTTTA	0.632																																					p.M911I													TRPM2,right_upper_lobe,carcinoma,+1,1	TRPM2	1	1	0			c.G2733T												109	115	113					21																	45825863		2203	4299	6502	SO:0001583	missense	7226	exon18			GCTCATGCACATT	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.2733G>T	21.37:g.45825863G>T	ENSP00000381023:p.Met911Ile		24	0	0		43	0.07	3	NM_003307	13	0	0	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	g	10.20	1.283613	0.23392	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	4.3	4.3	0.51218	Ion transport (1);	0.051320	0.85682	D	0.000000	D	0.96500	0.8858	L	0.41415	1.275	0.52099	D	0.99994	P;P;P	0.43024	0.798;0.689;0.689	P;P;P	0.47626	0.447;0.552;0.447	D	0.95834	0.8860	10	0.06494	T	0.89	-33.4867	16.8112	0.85720	0.0:0.0:1.0:0.0	.	911;697;911	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	I	911;911;891;911	ENSP00000300482:M911I;ENSP00000381023:M911I;ENSP00000300481:M891I;ENSP00000381026:M911I	ENSP00000300481:M891I	M	+	3	0	TRPM2	44650291	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.262000	0.58847	2.131000	0.65755	0.536000	0.68110	ATG			0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098086.1		NM_003307		T	45825863	G	T	45825863	3	4	120	1	0	0	0	0	1	0	0	0	16610	1319	46	2	2803	2	TRPM2	21	45825863	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		45825863	2304032	61	9005											
TRPM2	7226	mdanderson.org	37	chr21	45861630	45861630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcaggtggtggacaggcGcatcccactctatgcgaacc	9	7	13	12	2	1	0	0	0	1	0	2	2	2	1	2	5	2	2	2	5	2	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr21:45861630G>T	ENST00000397928.1	+	32	4887	c.4442G>T	c.(4441-4443)cGc>cTc	p.R1481L	TRPM2_ENST00000300481.9_Missense_Mutation_p.R1427L|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1531L|TRPM2_ENST00000498430.1_3'UTR|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1481L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1481	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				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						GTGGACAGGCGCATCCCACTC	0.657																																					p.R1481L													.	.			0			c.G4442T												103	73	83					21																	45861630		2203	4300	6503	SO:0001583	missense	7226	exon32			ACAGGCGCATCCC	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.4442G>T	21.37:g.45861630G>T	ENSP00000381023:p.Arg1481Leu		35	0	0		49	0.06	3	NM_003307	77	0	0	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315958	0.23908	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	4.2	3.31	0.37934	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.621124	0.15079	N	0.281799	T	0.09686	0.0238	N	0.16862	0.45	0.09310	N	0.999999	P;P;B;B	0.43352	0.804;0.62;0.402;0.402	B;B;B;B	0.41466	0.358;0.196;0.095;0.095	T	0.14090	-1.0485	10	0.66056	D	0.02	-15.3063	9.2104	0.37316	0.104:0.0:0.896:0.0	.	162;1531;1267;1481	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	L	1481;1481;1427;1531;225	ENSP00000300482:R1481L;ENSP00000381023:R1481L;ENSP00000300481:R1427L;ENSP00000381026:R1531L	ENSP00000300481:R1427L	R	+	2	0	TRPM2	44686058	0.998000	0.40836	0.117000	0.21633	0.187000	0.23431	4.883000	0.63128	1.126000	0.42016	0.591000	0.81541	CGC			0.657	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098086.1		NM_003307		T	45861630	G	T	45861630	3	4	120	1	0	0	0	0	1	0	0	0	16610	1087	38	1	4568	1	TRPM2	21	45861630	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10	35767	45861630	2268265	62	9006											
CBX6	23466	mdanderson.org	37	chr22	39262865	39262865	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactttggggcgggccagCgccccggccccctgcccggc	2	4	17	18	4	0	0	0	0	0	0	0	1	0	1	6	6	2	0	6	6	0	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chr22:39262865C>T	ENST00000407418.3	-	5	711	c.588G>A	c.(586-588)gcG>gcA	p.A196A	CBX6_ENST00000216083.6_Silent_p.A178A			O95503	CBX6_HUMAN	chromobox homolog 6	196					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)					ggcgggccagcgccccggccc	0.667																																					p.A196A													.	.			0			c.G588A												19	20	20					22																	39262865		2202	4292	6494	SO:0001819	synonymous_variant	23466	exon5			GGCCAGCGCCCCG		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.588G>A	22.37:g.39262865C>T			51	0	0		50	0.06	3	NM_014292	3	0	0	A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	CCDS13980.1																																																																																					0.667	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000318190.1		NM_014292		T	39262865	C	T	39262865	2	4	120	1	0	0	0	0	0	0	0	1	2724	755	27	1		1	CBX6	22	39262865	Silent	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10		39262865	12041701	63	9007											
PORCN	64840	hgsc.bcm.edu	37	chrX	48374126	48374126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcaagaatgctctccGcctggggaccttctcggctg	5	13	11	12	2	3	1	1	0	2	1	5	2	3	2	3	3	1	3	3	3	2	3	rs373433770		TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chrX:48374126G>T	ENST00000326194.6	+	10	1011	c.968G>T	c.(967-969)cGc>cTc	p.R323L	PORCN_ENST00000361988.3_Missense_Mutation_p.R312L|PORCN_ENST00000367574.4_Missense_Mutation_p.R241L|PORCN_ENST00000359882.4_Missense_Mutation_p.R317L|PORCN_ENST00000537758.1_Missense_Mutation_p.R323L|PORCN_ENST00000355961.4_Missense_Mutation_p.R318L|PORCN_ENST00000355092.3_Missense_Mutation_p.R317L	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	323					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATGCTCTCCGCCTGGGGACC	0.592																																					p.R323L													.	.			0			c.G968T												55	52	53					X																	48374126		2203	4300	6503	SO:0001583	missense	64840	exon10			CTCTCCGCCTGGG	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.968G>T	X.37:g.48374126G>T	ENSP00000322304:p.Arg323Leu		143	0	0		140	0.04	6	NM_203475	21	0	0	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142037	0.37825	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	4.94	3.12	0.35913	.	0.214221	0.45606	D	0.000359	T	0.66548	0.2800	L	0.59436	1.845	0.37300	D	0.908663	B;B;B;B;B	0.28055	0.199;0.1;0.058;0.06;0.199	B;B;B;B;B	0.36719	0.052;0.231;0.049;0.033;0.085	T	0.64411	-0.6414	10	0.49607	T	0.09	-7.7233	6.6305	0.22853	0.3222:0.0:0.6778:0.0	.	317;323;241;312;318	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	L	317;323;241;318;312;323;317	ENSP00000352946:R317L;ENSP00000446401:R323L;ENSP00000356546:R241L;ENSP00000348233:R318L;ENSP00000354978:R312L;ENSP00000322304:R323L;ENSP00000347207:R317L	ENSP00000322304:R323L	R	+	2	0	PORCN	48259070	0.594000	0.26849	1.000000	0.80357	0.944000	0.59088	0.656000	0.24948	0.406000	0.25560	0.529000	0.55759	CGC			0.592	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000356990.1		NM_022825		T	48374126	G	T	48374126	3	4	120	1	0	0	0	0	1	0	0	0	12275	1087	38	1	1006	1	PORCN	23	48374126	Missense_Mutation	SNP	G	TCGA-XE-AAOB-01A-11D-A435-10		48374126	106896434	64	9008											
POF1B	79983	mdanderson.org	37	chrX	84634406	84634406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgcagcacctctgggagCtgctgggttccacagctgct	6	9	12	14	0	1	0	0	0	1	0	2	1	2	1	2	2	6	7	2	2	0	1			TCGA-XE-AAOB-01A-11D-A435-10	TCGA-XE-AAOB-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee51c341-2389-4d94-bcec-3032c60427d6	9cbd9079-ffd1-4fcd-a8bb-c0e2c4d1a594	g.chrX:84634406C>T	ENST00000262753.4	-	2	199	c.54G>A	c.(52-54)caG>caA	p.Q18Q	POF1B_ENST00000373145.3_Silent_p.Q18Q	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	18						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CCTCTGGGAGCTGCTGGGTTC	0.552																																					p.Q18Q													.	.			0			c.G54A												49	42	44					X																	84634406		2203	4300	6503	SO:0001819	synonymous_variant	79983	exon2			TGGGAGCTGCTGG	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.54G>A	X.37:g.84634406C>T			63	0	0		53	0.06	3	NM_024921	1	0	0	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	CCDS14452.1																																																																																					0.552	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000057391.2		NM_024921		T	84634406	C	T	84634406	2	4	120	1	0	0	0	0	0	0	0	1	12199	796	28	2		2	POF1B	23	84634406	Silent	SNP	C	TCGA-XE-AAOB-01A-11D-A435-10	36260280	84634406	70636154	65	9009											
PTGFRN	5738	mdanderson.org	37	chr1	117487540	117487540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctaccacagtggggacGtgcgcctcgacaccgtgggc	7	5	15	14	5	0	0	0	0	0	0	1	2	0	1	3	3	3	1	3	3	1	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr1:117487540G>A	ENST00000393203.2	+	3	805	c.658G>A	c.(658-660)Gtg>Atg	p.V220M		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	220	Ig-like C2-type 2.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAGTGGGGACGTGCGCCTCGA	0.706																																					p.V220M													.	.			0			c.G658A												32	30	30					1																	117487540		2203	4299	6502	SO:0001583	missense	5738	exon3			GGGGACGTGCGCC	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.658G>A	1.37:g.117487540G>A	ENSP00000376899:p.Val220Met		26	0	0		43	0.07	3	NM_020440	10	0	0	Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427843	0.62733	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.02763	4.17	5.47	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177832	0.49305	D	0.000146	T	0.02767	0.0083	L	0.59436	1.845	0.31632	N	0.648862	P	0.45396	0.857	P	0.44422	0.449	T	0.15350	-1.0440	10	0.66056	D	0.02	-23.2349	14.5503	0.68061	0.0:0.0:0.8436:0.1564	.	220	Q9P2B2	FPRP_HUMAN	M	220;79	ENSP00000376899:V220M	ENSP00000376899:V220M	V	+	1	0	PTGFRN	117289063	0.545000	0.26449	0.999000	0.59377	0.942000	0.58702	0.657000	0.24963	2.573000	0.86826	0.561000	0.74099	GTG			0.706	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033271.1		NM_020440		A	117487540	G	A	117487540	3	1	121	1	0	0	0	0	1	0	0	0	12771	1145	40	1	668	1	PTGFRN	1	117487540	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		117487540	131763081	1	9010											
TTF2	8458	broad.mit.edu;bcgsc.ca	37	chr1	117644003	117644006	+	Splice_Site	DEL	TTTG	TTTG	-																															ttttgtttttgttttttagaTttgtttgtgagggaacagta																										TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	TTTG	TTTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr1:117644003_117644006delTTTG	ENST00000369466.4	+	23	3390_3393	c.3346_3349delTTTG	c.(3346-3351)tttgtt>tt	p.FV1116fs	TTF2_ENST00000480701.1_3'UTR	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1116	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GTTTTTTAGATTTGTTTGTGAGGG	0.309																																					p.1116_1117del													.	TTF2	92		0			c.3346_3349del																																									SO:0001630	splice_region_variant	8458	exon23			TTTAGATTTGTTT	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3345-1TTTG>-	1.37:g.117644007_117644010delTTTG			42	0	0		47	0.21	10	NM_003594	28	0	0	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Splice_Site	DEL	ENST00000369466.4	37	CCDS892.1																																																																																					0.309	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033277.3			Frame_Shift_Del	-	117644006	TTTG	-	117644003	8	5	121	1	0	1	0	1	0	0	1	0	16743	1507	52	0	3436	0	TTF2	1	117644003	Splice_Site	DEL	TTTG	TCGA-XE-AAOC-01A-11D-A435-10	156463	117644003	131606618	2	9011											
TUFT1	7286	broad.mit.edu	37	chr1	151546805	151546805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggcccttcagagagaGgaggacagagtggagcagaa	14	5	16	6	0	1	4	1	0	0	4	1	8	1	7	1	4	1	1	1	4	2	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr1:151546805G>A	ENST00000368849.3	+	8	716	c.654G>A	c.(652-654)gaG>gaA	p.E218E	TUFT1_ENST00000392712.3_Silent_p.E163E|TUFT1_ENST00000368848.2_Silent_p.E193E|TUFT1_ENST00000353024.3_Silent_p.E159E|TUFT1_ENST00000538902.1_Silent_p.E237E	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	218					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	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)			TTCAGAGAGAGGAGGACAGAG	0.527											OREG0003906	type=REGULATORY REGION|Gene=TUFT1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.E218E													.	TUFT1	32		0			c.G654A												111	102	105					1																	151546805		2203	4300	6503	SO:0001819	synonymous_variant	7286	exon8			GAGAGAGGAGGAC	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.654G>A	1.37:g.151546805G>A			238	0	0	1741	313	0.02	7	NM_020127	29	0	0	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Silent	SNP	ENST00000368849.3	37	CCDS1000.1																																																																																					0.527	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000035022.1		NM_020127		A	151546805	G	A	151546805	2	1	121	1	0	0	0	0	0	0	0	1	16796	991	35	3		3	TUFT1	1	151546805	Silent	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	33902802	151546805	97703816	3	9012											
KDM5B	10765	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	202710494	202710494	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagaagtctgctttttcaCctggccttgaggagactctt	9	13	10	9	0	3	3	1	1	2	2	3	5	3	3	2	2	1	1	2	2	2	4			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr1:202710494C>A	ENST00000367265.3	-	19	4110		c.e19+1		KDM5B_ENST00000367264.2_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGCTTTTTCACCTGGCCTTGA	0.512																																					.													.	.			0			c.2945+1G>T												33	35	34					1																	202710494		2199	4299	6498	SO:0001630	splice_region_variant	10765	exon20			TTTTCACCTGGCC	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2945+1G>T	1.37:g.202710494C>A			44	0	0		75	0.23	17	NM_006618	1	0	0	O95811|Q15752|Q9Y3Q5	Splice_Site	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864479	0.91511	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDM5B	200977117	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	7.814000	0.86154	2.826000	0.97356	0.563000	0.77884	.			0.512	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000099184.2		NM_006618	Intron	A	202710494	C	A	202710494	5	1	121	1	0	0	0	0	0	0	1	0	8149	521	18	3	1724	3	KDM5B	1	202710494	Splice_Site	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	51163689	202710494	46540127	4	9013											
LGTN	1939	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	206781611	206781612	+	Frame_Shift_Del	DEL	CA	CA	-																															gttccccaccaaagaaatggCacagaggtcgcccttctgta																										TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	CA	CA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr1:206781611_206781612delCA	ENST00000271764.2	-	4	607_608	c.399_400delTG	c.(397-402)tgtgccfs	p.A134fs	EIF2D_ENST00000367114.3_Frame_Shift_Del_p.A134fs	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	134	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAAGAAATGGCACAGAGGTCGC	0.48											OREG0014175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.134_134del													.	EIF2D	42		0			c.400_401del																																									SO:0001589	frameshift_variant	1939	exon4			AAATGGCACAGAG	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.399_400delTG	1.37:g.206781613_206781614delCA	ENSP00000271764:p.Ala134fs		595	0	0	2162	819	0.22	184	NM_006893	51	0	0	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Frame_Shift_Del	DEL	ENST00000271764.2	37	CCDS1465.1																																																																																					0.48	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088475.1		NM_006893		-	206781612	CA	-	206781611	7	5	121	1	0	1	0	1	0	0	0	0	8775	710	25	0	1402	0	LGTN	1	206781611	Frame_Shift_Del	DEL	CA	TCGA-XE-AAOC-01A-11D-A435-10	4071117	206781611	42469010	5	9014											
CDC42BPA	8476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	227335123	227335123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcataaaatggtgtttctccGtaaagcatttcatacataca	14	13	6	8	1	2	0	1	0	1	0	3	0	2	0	1	1	3	4	1	1	6	6	rs139987030	byFrequency	TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr1:227335123G>A	ENST00000366769.3	-	7	2122	c.831C>T	c.(829-831)taC>taT	p.Y277Y	CDC42BPA_ENST00000366765.3_Silent_p.Y277Y|CDC42BPA_ENST00000366766.2_Silent_p.Y277Y|CDC42BPA_ENST00000366767.3_Silent_p.Y277Y|CDC42BPA_ENST00000366764.2_Silent_p.Y277Y|CDC42BPA_ENST00000535525.1_Silent_p.Y277Y|CDC42BPA_ENST00000334218.5_Silent_p.Y277Y	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTGTTTCTCCGTAAAGCATTT	0.398																																					p.Y277Y													.	.			0			c.C831T							G	,	2,4404	4.2+/-10.8	0,2,2201	126	115	119		831,831	1.8	1	1	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDC42BPA	NM_003607.3,NM_014826.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	277/1720,277/1639	227335123	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8476	exon7			TTCTCCGTAAAGC	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.831C>T	1.37:g.227335123G>A			132	0	0		270	0.26	70	NM_003607	21	0.14	3		Silent	SNP	ENST00000366769.3	37	CCDS1558.1																																																																																			0		0.398	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091696.1		NM_014826		A	227335123	G	A	227335123	2	1	121	1	0	0	0	0	0	0	0	1	3074	1140	40	1		1	CDC42BPA	1	227335123	Silent	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	20553512	227335123	21915498	6	9015											
CLASP1	23332	mdanderson.org	37	chr2	122176293	122176293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgctgggtcgagggataCggctgctccgtgctagcgtg	5	10	16	10	4	1	0	1	0	0	0	3	2	2	1	1	3	5	4	1	3	2	2			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr2:122176293C>T	ENST00000263710.4	-	23	2614	c.2225G>A	c.(2224-2226)cGt>cAt	p.R742H	CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000545861.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	742	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCGAGGGATACGGCTGCTCCG	0.527																																					p.R742H													CLASP1,NS,carcinoma,0,2	CLASP1	0	2	0			c.G2225A												59	67	64					2																	122176293		2077	4210	6287	SO:0001583	missense	23332	exon23			GGGATACGGCTGC	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2225G>A	2.37:g.122176293C>T	ENSP00000263710:p.Arg742His		32	0	0		44	0.07	3	NM_015282	0		0	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	C	31	5.059284	0.93846	.	.	ENSG00000074054	ENST00000263710	T	0.21734	1.99	5.88	5.88	0.94601	Armadillo-type fold (1);	0.095421	0.64402	D	0.000001	T	0.42653	0.1212	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.08249	-1.0731	10	0.62326	D	0.03	-17.7943	20.2314	0.98350	0.0:1.0:0.0:0.0	.	742	Q7Z460	CLAP1_HUMAN	H	742	ENSP00000263710:R742H	ENSP00000263710:R742H	R	-	2	0	CLASP1	121892763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.938000	0.63519	2.789000	0.95967	0.591000	0.81541	CGT			0.527	CLASP1-201	KNOWN	basic	protein_coding	protein_coding				NM_015282		T	122176293	C	T	122176293	3	4	121	1	0	0	0	0	1	0	0	0	3456	536	19	1	2487	1	CLASP1	2	122176293	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10		122176293	121023080	7	9016											
SP5	389058	broad.mit.edu;mdanderson.org	37	chr2	171573375	171573375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccggggccccccacgcgCcccgcttccccgcctctgcg	1	5	12	23	6	1	0	0	0	1	0	2	0	2	0	9	2	2	1	9	2	0	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr2:171573375C>T	ENST00000375281.3	+	2	820	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	220					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCCCCACGCGCCCCGCTTCCc	0.776																																					p.P220S													.	SP5	14		0			c.C658T												1	1	1					2																	171573375		295	672	967	SO:0001583	missense	389058	exon2			CACGCGCCCCGCT		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.658C>T	2.37:g.171573375C>T	ENSP00000364430:p.Pro220Ser		30	0	0		56	0.07	4	NM_001003845	7	0	0		Missense_Mutation	SNP	ENST00000375281.3	37	CCDS33322.1	.	.	.	.	.	.	.	.	.	.	C	9.540	1.113211	0.20795	.	.	ENSG00000204335	ENST00000375281	T	0.11277	2.79	3.76	3.76	0.43208	.	0.062472	0.64402	U	0.000007	T	0.05318	0.0141	N	0.08118	0	0.44323	D	0.997201	P	0.43750	0.816	B	0.38264	0.269	T	0.49781	-0.8903	10	0.12103	T	0.63	.	14.6851	0.69044	0.0:1.0:0.0:0.0	.	220	Q6BEB4	SP5_HUMAN	S	220	ENSP00000364430:P220S	ENSP00000364430:P220S	P	+	1	0	SP5	171281621	0.001000	0.12720	0.425000	0.26659	0.150000	0.21749	0.496000	0.22499	2.092000	0.63282	0.555000	0.69702	CCC			0.776	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333670.1		XM_371581		T	171573375	C	T	171573375	3	4	121	1	0	0	0	0	1	0	0	0	14990	739	26	2	664	2	SP5	2	171573375	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	49397082	171573375	71625998	8	9017											
HOXD13	3239	mdanderson.org	37	chr2	176957866	176957866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgggacctctgagcgcaCgggctcttcctcgtcgtcgt	3	9	12	17	6	2	1	0	1	2	0	6	2	3	2	4	2	1	2	4	2	0	1	rs369711414		TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr2:176957866C>T	ENST00000392539.3	+	1	248	c.248C>T	c.(247-249)aCg>aTg	p.T83M		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	83					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TCTGAGCGCACGGGCTCTTCC	0.766			T	NUP98	AML*																																p.T83M				Dom	yes		2	2q31-q32	3239	homeo box D13		L	.	.			0			c.C248T							C	MET/THR	0,4020		0,0,2010	11	13	12		248	3.5	1	2		12	1,7873		0,1,3936	no	missense	HOXD13	NM_000523.3	81	0,1,5946	TT,TC,CC		0.0127,0.0,0.0084	benign	83/344	176957866	1,11893	2010	3937	5947	SO:0001583	missense	3239	exon1			AGCGCACGGGCTC	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"Homeoboxes / ANTP class : HOXL subclass"	5136	protein-coding gene	gene with protein product		142989	"homeo box D13"	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.248C>T	2.37:g.176957866C>T	ENSP00000376322:p.Thr83Met		25	0	0		38	0.08	3	NM_000523	0		0		Missense_Mutation	SNP	ENST00000392539.3	37	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502255	0.44455	0.0	1.27E-4	ENSG00000128714	ENST00000392539	D	0.95001	-3.58	3.53	3.53	0.40419	.	1.143430	0.06736	N	0.777454	D	0.88164	0.6363	N	0.08118	0	0.27214	N	0.959837	P	0.34977	0.478	B	0.35655	0.207	T	0.81424	-0.0939	10	0.42905	T	0.14	.	10.2851	0.43562	0.0:0.7977:0.2023:0.0	.	83	P35453	HXD13_HUMAN	M	83	ENSP00000376322:T83M	ENSP00000376322:T83M	T	+	2	0	HOXD13	176666112	0.510000	0.26171	0.972000	0.41901	0.864000	0.49448	1.542000	0.36137	1.801000	0.52704	0.467000	0.42956	ACG			0.766	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000359256.1				T	176957866	C	T	176957866	3	4	121	1	0	0	0	0	1	0	0	0	7337	536	19	1	250	1	HOXD13	2	176957866	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	5384491	176957866	66241507	9	9018											
HOXD10	3236	mdanderson.org	37	chr2	176982179	176982179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgaacgagcccgtgagCggccaggagcccaccaaagt	13	3	13	12	3	0	3	0	2	0	1	0	5	0	4	4	2	4	0	4	2	3	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr2:176982179C>T	ENST00000249501.4	+	1	873	c.618C>T	c.(616-618)agC>agT	p.S206S	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	206					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGCCCGTGAGCGGCCAGGAGC	0.652																																					p.S206S													.	.			0			c.C618T												23	29	27					2																	176982179		2190	4274	6464	SO:0001819	synonymous_variant	3236	exon1			CGTGAGCGGCCAG		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.618C>T	2.37:g.176982179C>T			75	0	0		79	0.05	4	NM_002148	5	0	0	Q6NT10	Silent	SNP	ENST00000249501.4	37	CCDS2266.1																																																																																					0.652	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255692.2				T	176982179	C	T	176982179	2	4	121	1	0	0	0	0	0	0	0	1	7334	767	27	1		1	HOXD10	2	176982179	Silent	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	24313	176982179	66217194	10	9019											
PLCL1	5334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaatgggctgtcgaagcGttgaactcgatgtaagtgat	12	11	13	5	3	0	3	0	3	0	0	2	5	0	3	0	1	2	3	0	1	5	2	rs201197388		TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	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																																					p.V442I													PLCL1_ENST00000428675,right_upper_lobe,carcinoma,0,2	PLCL1_ENST00000428675	0	2	0			c.G1324A							G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	62	59	60		1324	1	1	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	exon2			CGAAGCGTTGAAC	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		133	0	0		122	0.32	39	NM_006226	5	0.4	2	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	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	0.001		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340210.1		NM_006226		A	198949565	G	A	198949565	3	1	121	1	0	0	0	0	1	0	0	0	12056	1145	40	1	1330	1	PLCL1	2	198949565	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	21967386	198949565	44249808	11	9020											
ARPC2	10109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	219103519	219103519	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttccaattccaagaagAgggcaaggaaggagagaaca	18	5	11	7	0	0	3	0	0	0	3	2	6	2	5	2	3	2	1	2	3	7	3			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr2:219103519A>C	ENST00000295685.10	+	5	662	c.401A>C	c.(400-402)gAg>gCg	p.E134A	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.E134A	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	134					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTCCAAGAAGAGGGCAAGGAA	0.443																																					p.E134A													.	.			0			c.A401C												98	95	96					2																	219103519		2203	4300	6503	SO:0001583	missense	10109	exon5			AAGAAGAGGGCAA	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.401A>C	2.37:g.219103519A>C	ENSP00000295685:p.Glu134Ala		233	0	0		306	0.29	89	NM_005731	809	0.33	268	Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272205	0.59649	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	N	0.04746	-0.17	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18618	-1.0331	9	0.31617	T	0.26	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	134	O15144	ARPC2_HUMAN	A	134	.	ENSP00000295685:E134A	E	+	2	0	ARPC2	218811764	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAG			0.443	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256777.2		NM_005731		C	219103519	A	C	219103519	3	2	121	1	0	0	0	0	1	0	0	0	971	304	11	4	419	4	ARPC2	2	219103519	Missense_Mutation	SNP	A	TCGA-XE-AAOC-01A-11D-A435-10	20153954	219103519	24095854	12	9021											
TTLL4	9654	broad.mit.edu	37	chr2	219617499	219617499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacaggacttctatgcatCtgtgctggatgtcctgacac	9	11	9	12	0	2	1	0	1	2	0	3	3	3	3	2	2	2	2	2	2	1	2	rs557920337		TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr2:219617499C>T	ENST00000392102.1	+	17	3330	c.2990C>T	c.(2989-2991)tCt>tTt	p.S997F	TTLL4_ENST00000442769.1_Missense_Mutation_p.S933F|TTLL4_ENST00000457313.1_Missense_Mutation_p.S832F|TTLL4_ENST00000258398.4_Missense_Mutation_p.S997F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	997					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)		TTCTATGCATCTGTGCTGGAT	0.493													C|||	1	0.000199681	0	0	5008	,	,		20861	0		0	False		,,,				2504	0.001				p.S997F	GBM(172;1818 2053 15407 20943 49753)												.	TTLL4	96		0			c.C2990T												182	167	172					2																	219617499		2203	4300	6503	SO:0001583	missense	9654	exon17			ATGCATCTGTGCT		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.2990C>T	2.37:g.219617499C>T	ENSP00000375951:p.Ser997Phe		121	0	0		135	0.03	4	NM_014640	65	0.02	1	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941961	0.92526	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04758	3.73;3.98;3.56;3.98	5.38	5.38	0.77491	.	0.977927	0.08412	N	0.949716	T	0.24122	0.0584	M	0.70595	2.14	0.51482	D	0.999924	P;D;D;D	0.76494	0.823;0.999;0.999;0.994	P;D;D;P	0.67103	0.535;0.909;0.949;0.885	T	0.00221	-1.1905	10	0.87932	D	0	.	18.3102	0.90197	0.0:1.0:0.0:0.0	.	200;832;933;997	B4DJF5;E9PH58;E7EX20;Q14679	.;.;.;TTLL4_HUMAN	F	832;997;933;997	ENSP00000393332:S832F;ENSP00000375951:S997F;ENSP00000396555:S933F;ENSP00000258398:S997F	ENSP00000258398:S997F	S	+	2	0	TTLL4	219325743	0.970000	0.33590	0.990000	0.47175	0.992000	0.81027	4.272000	0.58908	2.793000	0.96121	0.655000	0.94253	TCT			0.493	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256726.1		NM_014640		T	219617499	C	T	219617499	3	4	121	1	0	0	0	0	1	0	0	0	16753	913	32	3	3048	3	TTLL4	2	219617499	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	513980	219617499	23581874	13	9022											
SPEG	10290	mdanderson.org	37	chr2	220343903	220343903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagcgaatcgccaggaaaCccaccgtgtgtgagtctgag	10	7	14	10	3	1	2	0	2	1	0	2	5	1	4	3	2	2	0	3	2	2	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr2:220343903C>T	ENST00000312358.7	+	23	5197	c.5065C>T	c.(5065-5067)Ccc>Tcc	p.P1689S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1689	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCCAGGAAACCCACCGTGTG	0.617																																					p.P1689S													.	.			0			c.C5065T												62	72	68					2																	220343903		2094	4222	6316	SO:0001583	missense	10290	exon23			AGGAAACCCACCG	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5065C>T	2.37:g.220343903C>T	ENSP00000311684:p.Pro1689Ser		32	0	0		39	0.08	3	NM_005876	15	0	0	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194964	0.38806	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.38560	1.13	4.42	2.59	0.31030	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	0.39834	N	0.001260	T	0.25938	0.0632	N	0.25332	0.735	0.80722	D	1	B	0.20988	0.05	B	0.31290	0.127	T	0.05801	-1.0863	10	0.06494	T	0.89	.	7.8754	0.29590	0.1602:0.7531:0.0:0.0867	.	1689	Q15772	SPEG_HUMAN	S	1689	ENSP00000311684:P1689S	ENSP00000265327:P1689S	P	+	1	0	SPEG	220052147	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.014000	0.29950	0.481000	0.27557	0.561000	0.74099	CCC			0.617	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130252.2		NM_005876		T	220343903	C	T	220343903	3	4	121	1	0	0	0	0	1	0	0	0	15059	507	18	3	5167	3	SPEG	2	220343903	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	726404	220343903	22855470	14	9023											
PTMA	5757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	232576664	232576664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaggaagaaggtggggAggaagaggaggaggaagaag	18	1	22	0	0	0	5	0	0	0	5	0	11	0	11	0	8	0	0	0	8	6	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr2:232576664A>G	ENST00000341369.7	+	3	376	c.185A>G	c.(184-186)gAg>gGg	p.E62G	PTMA_ENST00000409683.1_Missense_Mutation_p.E61G|PTMA_ENST00000410064.1_Missense_Mutation_p.E87G|PTMA_ENST00000409321.1_Missense_Mutation_p.E82G|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409115.3_Missense_Mutation_p.E61G	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha	62	Asp/Glu-rich (acidic).				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		gaaggtggggaggaagaggag	0.502																																					p.E62G													.	.			0			c.A185G												51	53	52					2																	232576664		2034	4195	6229	SO:0001583	missense	5757	exon3			GTGGGGAGGAAGA		CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"gene sequence 28"	188390	"prothymosin, alpha (gene sequence 28)"	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.185A>G	2.37:g.232576664A>G	ENSP00000344547:p.Glu62Gly		53	0	0		82	0.22	18	NM_001099285	2865	0.23	654	Q15249|Q15592	Missense_Mutation	SNP	ENST00000341369.7	37	CCDS42833.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.29|13.29	2.192066|2.192066	0.38707|0.38707	.|.	.|.	ENSG00000187514|ENSG00000187514	ENST00000409321;ENST00000409115;ENST00000341369;ENST00000409683;ENST00000410064;ENST00000358839|ENST00000412128	.|.	.|.	.|.	3.58|3.58	3.58|3.58	0.41010|0.41010	.|.	0.117593|.	0.34777|.	U|.	0.003698|.	T|T	0.52757|0.52757	0.1754|0.1754	L|L	0.34521|0.34521	1.04|1.04	0.37866|0.37866	D|D	0.929878|0.929878	D;D|.	0.56287|.	0.975;0.975|.	D;D|.	0.63283|.	0.913;0.913|.	T|T	0.54695|0.54695	-0.8255|-0.8255	9|5	0.35671|.	T|.	0.21|.	.|.	11.9888|11.9888	0.53163|0.53163	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	62;61|.	P06454;Q53S24|.	PTMA_HUMAN;.|.	G|G	82;61;62;61;87;86|99	.|.	ENSP00000344547:E62G|.	E|R	+|+	2|1	0|2	PTMA|PTMA	232284908|232284908	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	3.904000|3.904000	0.56325|0.56325	1.865000|1.865000	0.54081|0.54081	0.448000|0.448000	0.29417|0.29417	GAG|AGG			0.502	PTMA-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000332553.1				G	232576664	A	G	232576664	3	3	121	1	0	0	0	0	1	0	0	0	12787	304	11	4	195	4	PTMA	2	232576664	Missense_Mutation	SNP	A	TCGA-XE-AAOC-01A-11D-A435-10	12232761	232576664	10622709	15	9024											
UGT1A4	54657	mdanderson.org	37	chr2	234628241	234628241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccgtgtggctgttccgaGgggactttgtgatggactac	6	12	14	9	2	0	1	0	1	0	0	2	4	2	3	2	4	1	2	2	4	1	3	rs200363835		TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr2:234628241G>C	ENST00000373409.3	+	1	818	c.775G>C	c.(775-777)Ggg>Cgg	p.G259R	UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	259					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	GCTGTTCCGAGGGGACTTTGT	0.517																																					p.G259R	Melanoma(99;1011 1962 13201 26492)												.	.			0			c.G775C												201	201	201					2																	234628241		2203	4300	6503	SO:0001583	missense	54657	exon1			TTCCGAGGGGACT	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.775G>C	2.37:g.234628241G>C	ENSP00000362508:p.Gly259Arg		139	0.0071942446	1		166	0.04	7	NM_007120	0		0	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	CCDS33405.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	4	0.006993006993006993	2	0.002638522427440633	g	0.015	-1.547026	0.00926	.	.	ENSG00000244474	ENST00000373409	T	0.61510	0.1	4.49	-5.65	0.02459	.	.	.	.	.	T	0.34395	0.0896	L	0.51914	1.62	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.17433	0.006;0.018	T	0.39461	-0.9613	9	0.49607	T	0.09	.	3.3767	0.07239	0.1848:0.0788:0.2436:0.4928	.	259;259	B8K288;P22310	.;UD14_HUMAN	R	259	ENSP00000362508:G259R	ENSP00000362508:G259R	G	+	1	0	UGT1A4	234292980	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.669000	0.01958	-0.911000	0.03843	-4.554000	0.00004	GGG	0.003		0.517	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding		OTTHUMT00000130984.1		NM_007120		C	234628241	G	C	234628241	3	2	121	1	0	0	0	0	1	0	0	0	16971	1000	35	5	777	5	UGT1A4	2	234628241	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	2051577	234628241	8571132	16	9025											
NFKBIZ	64332	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	101572306	101572306	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaactctggaatacagtccTtttcccatacctccccagtc	9	11	4	17	0	1	0	0	0	1	0	5	1	4	1	6	1	3	0	6	1	4	4			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr3:101572306T>C	ENST00000326172.5	+	5	1051	c.936T>C	c.(934-936)ccT>ccC	p.P312P	NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Silent_p.P212P	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	312					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AATACAGTCCTTTTCCCATAC	0.483																																					p.P312P													.	NFKBIZ	55		0			c.T936C												145	136	139					3																	101572306		2203	4300	6503	SO:0001819	synonymous_variant	64332	exon5			CAGTCCTTTTCCC	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.936T>C	3.37:g.101572306T>C			108	0	0		138	0.04	5	NM_031419	7	0	0	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Silent	SNP	ENST00000326172.5	37	CCDS2946.1																																																																																					0.483	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000353793.1		NM_031419		C	101572306	T	C	101572306	2	2	121	1	0	0	0	0	0	0	0	1	10400	1596	56	4		4	NFKBIZ	3	101572306	Silent	SNP	T	TCGA-XE-AAOC-01A-11D-A435-10		101572306	96450124	17	9026											
EPHB1	2047	mdanderson.org	37	chr3	134968244	134968244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaccaccgtggatgactgGctcagcgccatcaaaatggt	10	10	10	11	2	2	1	2	1	0	0	2	2	2	2	3	3	2	1	3	3	3	2			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr3:134968244G>T	ENST00000398015.3	+	15	3127	c.2757G>T	c.(2755-2757)tgG>tgT	p.W919C	EPHB1_ENST00000493838.1_Missense_Mutation_p.W480C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	919	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)	p.W919*(2)		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						TGGATGACTGGCTCAGCGCCA	0.577																																					p.W919C													EPHB1_ENST00000398015,face,malignant_melanoma,0,2	EPHB1_ENST00000398015	0	2	2	Substitution - Nonsense(2)	skin(2)	c.G2757T												96	97	97					3																	134968244		2101	4232	6333	SO:0001583	missense	2047	exon15			TGACTGGCTCAGC	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.2757G>T	3.37:g.134968244G>T	ENSP00000381097:p.Trp919Cys		53	0	0		48	0.06	3	NM_004441	159	0	0	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717962	0.89205	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.72282	-0.64;-0.64	5.43	5.43	0.79202	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93594	0.6924	10	0.87932	D	0	.	19.4372	0.94801	0.0:0.0:1.0:0.0	.	919	P54762	EPHB1_HUMAN	C	919;480	ENSP00000381097:W919C;ENSP00000419574:W480C	ENSP00000381097:W919C	W	+	3	0	EPHB1	136450934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.827000	0.97445	0.650000	0.86243	TGG			0.577	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357671.1		NM_004441		T	134968244	G	T	134968244	3	4	121	1	0	0	0	0	1	0	0	0	5181	1212	42	2	2815	2	EPHB1	3	134968244	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	33395938	134968244	63054186	18	9027											
WHSC2	7469	mdanderson.org	37	chr4	1985675	1985675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtggtaggggcgacagccGgaggtgtggtgggtgtcaga	7	7	22	5	2	1	1	1	0	0	1	1	4	1	2	1	7	1	1	1	7	1	1	rs139794494		TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr4:1985675G>A	ENST00000411638.2	-	9	1217	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	NELFA_ENST00000382882.3_Missense_Mutation_p.P412L|NELFA_ENST00000542778.1_Missense_Mutation_p.P266L|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	401					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)										GGCGACAGCCGGAGGTGTGGT	0.687																																					p.P412L													.	.			0			c.C1235T							G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	40	44	42		1235	4.1	0	4	dbSNP_134	42	1,8597	1.2+/-3.3	0,1,4298	no	missense	WHSC2	NM_005663.4	98	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	benign	412/540	1985675	2,13002	2203	4299	6502	SO:0001583	missense	7469	exon9			ACAGCCGGAGGTG	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.1202C>T	4.37:g.1985675G>A	ENSP00000399165:p.Pro401Leu		28	0	0		35	0.09	3	NM_005663	114	0	0	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.	.	.	.	.	.	.	.	.	.	G	12.06	1.825813	0.32237	2.27E-4	1.16E-4	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	4.94	4.09	0.47781	.	0.167170	0.53938	D	0.000045	T	0.40909	0.1136	L	0.48642	1.525	0.80722	D	1	B	0.29270	0.24	B	0.21151	0.033	T	0.33163	-0.9879	10	0.49607	T	0.09	-13.9787	7.5264	0.27658	0.0844:0.0:0.7521:0.1635	.	401	Q9H3P2	NELFA_HUMAN	L	412;405;266;401	ENSP00000372335:P412L;ENSP00000387647:P405L;ENSP00000445757:P266L;ENSP00000399165:P401L	ENSP00000372335:P412L	P	-	2	0	WHSC2	1955473	1.000000	0.71417	0.046000	0.18839	0.175000	0.22909	6.079000	0.71291	1.089000	0.41292	0.462000	0.41574	CCG	0		0.687	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000473007.1		NM_005663		A	1985675	G	A	1985675	3	1	121	1	0	0	0	0	1	0	0	0	17388	1116	39	1	396	1	WHSC2	4	1985675	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		1985675	189168601	19	9028											
RGS12	6002	mdanderson.org	37	chr4	3422429	3422429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggctctgtgtcctctgCggggagcctggacctggtga	4	9	17	11	1	2	1	0	1	2	0	3	3	3	3	3	5	2	2	3	5	0	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr4:3422429C>T	ENST00000344733.5	+	10	3726	c.2822C>T	c.(2821-2823)gCg>gTg	p.A941V	RGS12_ENST00000336727.3_Missense_Mutation_p.A941V|RGS12_ENST00000306648.7_Missense_Mutation_p.A339V|RGS12_ENST00000382788.3_Missense_Mutation_p.A941V|RGS12_ENST00000338806.4_Missense_Mutation_p.A293V|RGS12_ENST00000538395.1_Missense_Mutation_p.A283V|RGS12_ENST00000508158.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	941				A -> V (in Ref. 7; AAI18595). {ECO:0000305}.	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)		GTGTCCTCTGCGGGGAGCCTG	0.612																																					p.A941V													.	.			0			c.C2822T												77	68	71					4																	3422429		2202	4300	6502	SO:0001583	missense	6002	exon10			CCTCTGCGGGGAG	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.2822C>T	4.37:g.3422429C>T	ENSP00000339381:p.Ala941Val		39	0	0		48	0.06	3	NM_002926	55	0	0	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643523	0.47258	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.35236	1.63;1.63;1.63;1.32;1.32;1.33	4.79	4.79	0.61399	.	0.207171	0.41294	D	0.000903	T	0.34337	0.0894	L	0.51422	1.61	0.09310	N	1	P;P;P;P;B;P;B;P	0.45986	0.576;0.87;0.87;0.701;0.26;0.708;0.348;0.48	B;B;B;B;B;B;B;B	0.39465	0.124;0.184;0.184;0.3;0.103;0.124;0.148;0.284	T	0.29971	-0.9994	10	0.36615	T	0.2	-10.8183	16.8327	0.85949	0.0:1.0:0.0:0.0	.	283;140;140;283;293;339;941;941	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	V	941;941;941;339;293;283	ENSP00000339381:A941V;ENSP00000338509:A941V;ENSP00000372238:A941V;ENSP00000304459:A339V;ENSP00000342133:A293V;ENSP00000438888:A283V	ENSP00000304459:A339V	A	+	2	0	RGS12	3392227	0.527000	0.26306	0.030000	0.17652	0.886000	0.51366	4.313000	0.59160	2.205000	0.71048	0.655000	0.94253	GCG			0.612	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000206602.1		NM_002926		T	3422429	C	T	3422429	3	4	121	1	0	0	0	0	1	0	0	0	13318	768	27	1	2914	1	RGS12	4	3422429	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	1436754	3422429	187731847	20	9029											
GNRHR	2798	mdanderson.org	37	chr4	68619536	68619536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtataatggcttacctgtGgtcctgcaaagacactactg	10	12	10	9	0	0	1	0	0	0	1	1	1	1	1	2	2	3	3	2	2	5	4			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr4:68619536G>T	ENST00000226413.4	-	1	542	c.518C>A	c.(517-519)cCa>cAa	p.P173Q	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.P173Q	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	173					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GCTTACCTGTGGTCCTGCAAA	0.433																																					p.P173Q													.	.			0			c.C518A												49	45	46					4																	68619536		2203	4300	6503	SO:0001583	missense	2798	exon1			ACCTGTGGTCCTG		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.518C>A	4.37:g.68619536G>T	ENSP00000226413:p.Pro173Gln		63	0	0		51	0.06	3	NM_001012763	0		0	O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486052	0.63962	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.51325	0.71;0.71	6.02	6.02	0.97574	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.77219	0.4098	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81803	-0.0765	10	0.87932	D	0	-14.7706	18.0345	0.89296	0.0:0.0:1.0:0.0	.	173;173	P30968;P30968-2	GNRHR_HUMAN;.	Q	173	ENSP00000226413:P173Q;ENSP00000397561:P173Q	ENSP00000226413:P173Q	P	-	2	0	GNRHR	68302131	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	9.142000	0.94618	2.865000	0.98341	0.655000	0.94253	CCA			0.433	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251432.2				T	68619536	G	T	68619536	3	4	121	1	0	0	0	0	1	0	0	0	6563	1348	47	3	480	3	GNRHR	4	68619536	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	65197107	68619536	122534740	21	9030											
ARSB	411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	78251240	78251240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgcctgttcttgtctTggataaagtcatatggcttc	8	16	10	7	0	3	1	1	1	2	0	4	2	3	2	1	2	1	2	1	2	3	6			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr5:78251240T>C	ENST00000264914.4	-	4	1312	c.776A>G	c.(775-777)cAa>cGa	p.Q259R	ARSB_ENST00000565165.1_Missense_Mutation_p.Q259R|ARSB_ENST00000396151.3_Missense_Mutation_p.Q259R	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	259					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GTTCTTGTCTTGGATAAAGTC	0.463																																					p.Q259R	Melanoma(169;563 1968 25780 26156 52266)												.	.			0			c.A776G												159	144	149					5																	78251240		2203	4300	6503	SO:0001583	missense	411	exon5			TTGTCTTGGATAA	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.776A>G	5.37:g.78251240T>C	ENSP00000264914:p.Gln259Arg		146	0	0		98	0.4	39	NM_198709	25	0.4	10	B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740534	0.30865	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98666	-5.06;-5.06	5.55	4.4	0.53042	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.487590	0.24705	N	0.036277	D	0.95843	0.8647	L	0.35854	1.095	0.35893	D	0.829804	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	D	0.94235	0.7480	10	0.16420	T	0.52	.	11.1767	0.48603	0.0:0.072:0.0:0.928	.	259;259	Q8N322;P15848	.;ARSB_HUMAN	R	259	ENSP00000264914:Q259R;ENSP00000379455:Q259R	ENSP00000264914:Q259R	Q	-	2	0	ARSB	78286996	0.999000	0.42202	0.970000	0.41538	0.987000	0.75469	3.076000	0.50081	0.951000	0.37770	0.482000	0.46254	CAA			0.463	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226932.2		NM_000046		C	78251240	T	C	78251240	3	2	121	1	0	0	0	0	1	0	0	0	988	1812	63	4	878	4	ARSB	5	78251240	Missense_Mutation	SNP	T	TCGA-XE-AAOC-01A-11D-A435-10		78251240	102664020	22	9031											
POU4F3	5459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	145719235	145719235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccgacgccacctaccataCcatgagcagcgtgccctgca	9	5	9	18	3	0	1	0	1	0	0	0	2	0	1	6	0	6	2	6	0	2	2	rs145218099		TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr5:145719235C>A	ENST00000230732.4	+	2	334	c.245C>A	c.(244-246)aCc>aAc	p.T82N	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	82					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)			ACCTACCATACCATGAGCAGC	0.647																																					p.T82N													.	.			0			c.C245A												140	127	131					5																	145719235		2203	4300	6503	SO:0001583	missense	5459	exon2			ACCATACCATGAG	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.245C>A	5.37:g.145719235C>A	ENSP00000230732:p.Thr82Asn		94	0	0		68	0.46	31	NM_002700	0		0	O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807729	0.31961	.	.	ENSG00000091010	ENST00000230732	T	0.28069	1.63	4.63	4.63	0.57726	.	0.187571	0.45361	D	0.000362	T	0.31702	0.0805	M	0.73962	2.25	0.80722	D	1	P	0.38922	0.651	B	0.30251	0.113	T	0.23691	-1.0181	10	0.27785	T	0.31	.	16.4058	0.83669	0.0:1.0:0.0:0.0	.	82	Q15319	PO4F3_HUMAN	N	82	ENSP00000230732:T82N	ENSP00000230732:T82N	T	+	2	0	POU4F3	145699428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.531000	0.81973	2.391000	0.81399	0.462000	0.41574	ACC			0.647	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251887.2		NM_002700		A	145719235	C	A	145719235	3	1	121	1	0	0	0	0	1	0	0	0	12297	507	18	3	251	3	POU4F3	5	145719235	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	67467995	145719235	35196025	23	9032											
SLIT3	6586	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	168678411	168678411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagactcggaggttcttgaGcccagcgaagtccatcttgg	9	9	12	11	2	2	2	0	1	2	1	4	4	3	3	2	3	2	1	2	3	2	3			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr5:168678411G>T	ENST00000519560.1	-	2	669	c.250C>A	c.(250-252)Ctc>Atc	p.L84I	SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Missense_Mutation_p.L84I|SLIT3_ENST00000404867.3_Missense_Mutation_p.L84I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	84					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTTCTTGAGCCCAGCGAAG	0.433																																					p.L84I	Ovarian(29;311 847 10864 17279 24903)												.	SLIT3	224		0			c.C250A												173	160	164					5																	168678411		2203	4300	6503	SO:0001583	missense	6586	exon2			TCTTGAGCCCAGC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.250C>A	5.37:g.168678411G>T	ENSP00000430333:p.Leu84Ile		67	0	0		44	0.09	4	NM_001271946	1	0	0	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244367	0.59103	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.35789	1.29;1.29;1.29	4.95	4.07	0.47477	.	0.000000	0.53938	D	0.000049	T	0.60843	0.2300	M	0.86178	2.8	0.39262	D	0.964238	D;D	0.89917	0.974;1.0	D;D	0.91635	0.953;0.999	T	0.66818	-0.5827	10	0.72032	D	0.01	.	9.667	0.39990	0.0984:0.0:0.9016:0.0	.	84;84	O75094-2;O75094	.;SLIT3_HUMAN	I	84	ENSP00000430333:L84I;ENSP00000332164:L84I;ENSP00000384890:L84I	ENSP00000332164:L84I	L	-	1	0	SLIT3	168610989	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.046000	0.57376	1.053000	0.40415	0.655000	0.94253	CTC			0.433	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252792.4		NM_003062		T	168678411	G	T	168678411	3	4	121	1	0	0	0	0	1	0	0	0	14764	971	34	2	4461	2	SLIT3	5	168678411	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	22959176	168678411	12236849	24	9033											
HIST1H3G	8355	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr6	26271526	26271526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgccgccggtggccggcgcGcttttccgagccgccttagt	3	8	14	16	8	0	0	0	0	0	0	1	1	1	0	6	3	1	1	6	3	1	3			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr6:26271526G>A	ENST00000305910.3	-	1	86	c.87C>T	c.(85-87)agC>agT	p.S29S	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	29					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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						TGGCCGGCGCGCTTTTCCGAG	0.647																																					p.S29S													.	HIST1H3G	20		0			c.C87T												28	34	32					6																	26271526		2194	4290	6484	SO:0001819	synonymous_variant	8355	exon1			CGGCGCGCTTTTC	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.87C>T	6.37:g.26271526G>A			75	0.0133333333	1		86	0.56	48	NM_003534	4	0.75	3	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000305910.3	37	CCDS4602.1																																																																																					0.647	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040099.2		NM_003534		A	26271526	G	A	26271526	2	1	121	1	0	0	0	0	0	0	0	1	7176	1078	38	1		1	HIST1H3G	6	26271526	Silent	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		26271526	144843541	25	9034											
TRERF1	55809	mdanderson.org	37	chr6	42227154	42227154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgggcgccagggccgtggCcggagatgaggacattgctg	6	6	20	9	3	0	2	0	1	0	1	0	4	0	3	3	6	1	1	3	6	0	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr6:42227154C>T	ENST00000372922.4	-	9	2754	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	TRERF1_ENST00000541110.1_Missense_Mutation_p.G751D|TRERF1_ENST00000354325.2_Missense_Mutation_p.G648D|TRERF1_ENST00000340840.2_Missense_Mutation_p.G648D|TRERF1_ENST00000372917.4_Missense_Mutation_p.G648D	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	731	Interacts with CREBBP.|Pro-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)			AGGGCCGTGGCCGGAGATGAG	0.701																																					p.G731D													.	.			0			c.G2192A												8	11	10					6																	42227154		2176	4217	6393	SO:0001583	missense	55809	exon9			CCGTGGCCGGAGA	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.2192G>A	6.37:g.42227154C>T	ENSP00000362013:p.Gly731Asp		11	0	0		13	0.15	2	NM_033502	6	0	0	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617604	0.66787	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.11385	2.95;2.78;2.93;2.78;2.78	5.36	4.47	0.54385	.	0.394097	0.21423	N	0.074797	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	P;P;P;P;D	0.54047	0.589;0.454;0.454;0.589;0.964	B;B;B;B;P	0.48598	0.229;0.115;0.115;0.229;0.583	T	0.39272	-0.9622	10	0.30854	T	0.27	-18.0152	8.0	0.30291	0.131:0.5745:0.2945:0.0	.	648;751;731;487;487	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	D	751;648;731;648;648	ENSP00000439689:G751D;ENSP00000362008:G648D;ENSP00000362013:G731D;ENSP00000339438:G648D;ENSP00000346285:G648D	ENSP00000339438:G648D	G	-	2	0	TRERF1	42335132	0.647000	0.27304	0.985000	0.45067	0.986000	0.74619	1.878000	0.39608	2.505000	0.84491	0.655000	0.94253	GGC			0.701	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040551.2		NM_033502		T	42227154	C	T	42227154	3	4	121	1	0	0	0	0	1	0	0	0	16499	739	26	2	1450	2	TRERF1	6	42227154	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	15955628	42227154	128887913	26	9035											
MED23	9439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	131931259	131931259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagaaaatgagctgacttGagagatgctgccacaggagt	15	7	12	7	0	0	5	0	3	0	2	0	7	0	6	1	1	3	2	1	1	3	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr6:131931259G>A	ENST00000368068.3	-	11	1183	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	MED23_ENST00000368060.3_Missense_Mutation_p.S335L|MED23_ENST00000368053.4_Missense_Mutation_p.S341L|MED23_ENST00000354577.4_Missense_Mutation_p.S341L|MED23_ENST00000540546.1_Missense_Mutation_p.S341L|MED23_ENST00000545957.1_Missense_Mutation_p.S24L|MED23_ENST00000539158.1_Missense_Mutation_p.S335L|MED23_ENST00000368058.1_Missense_Mutation_p.S341L|MED23_ENST00000403834.3_Missense_Mutation_p.S341L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	335					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)		GAGCTGACTTGAGAGATGCTG	0.458																																					p.S341L													.	.			0			c.C1022T												125	123	124					6																	131931259		2203	4300	6503	SO:0001583	missense	9439	exon12			TGACTTGAGAGAT	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.1004C>T	6.37:g.131931259G>A	ENSP00000357047:p.Ser335Leu		106	0	0		108	0.68	73	NM_015979	14	0.64	9	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147793	0.78001	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.76	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	0.999;0.981;1.0;0.999	D;D;D;D	0.85130	0.997;0.943;0.986;0.977	D	0.84692	0.0723	10	0.72032	D	0.01	0.0503	16.24	0.82402	0.0:0.0:0.8668:0.1332	.	24;341;335;341	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	L	341;335;341;335;341;24;341;341;335	ENSP00000346588:S341L;ENSP00000357047:S335L;ENSP00000384536:S341L;ENSP00000357039:S335L;ENSP00000357037:S341L;ENSP00000439977:S24L;ENSP00000357032:S341L;ENSP00000437818:S341L;ENSP00000445072:S335L	ENSP00000346588:S341L	S	-	2	0	MED23	131972952	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	8.001000	0.88508	2.730000	0.93505	0.591000	0.81541	TCA			0.458	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000042215.1				A	131931259	G	A	131931259	3	1	121	1	0	0	0	0	1	0	0	0	9457	1294	45	3	3185	3	MED23	6	131931259	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	89704105	131931259	39183808	27	9036											
BAZ1B	9031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	72861685	72861685	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcttcactgtcctcAgaagcagactcttcagtata	11	13	5	12	0	7	2	5	0	2	2	8	2	8	2	1	0	1	2	1	0	3	4			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr7:72861685A>G	ENST00000339594.4	-	16	4091	c.3753T>C	c.(3751-3753)tcT>tcC	p.S1251S	BAZ1B_ENST00000404251.1_Silent_p.S1251S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1251					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)				CACTGTCCTCAGAAGCAGACT	0.453																																					p.S1251S	Esophageal Squamous(112;1167 1561 21085 43672 48228)												.	.			0			c.T3753C												128	116	120					7																	72861685		2203	4300	6503	SO:0001819	synonymous_variant	9031	exon16			GTCCTCAGAAGCA	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.3753T>C	7.37:g.72861685A>G			87	0	0		58	0.43	25	NM_032408	72	0.38	27	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																					0.453	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252123.4		NM_032408		G	72861685	A	G	72861685	2	3	121	1	0	0	0	0	0	0	0	1	1330	175	7	4		4	BAZ1B	7	72861685	Silent	SNP	A	TCGA-XE-AAOC-01A-11D-A435-10		72861685	86276978	28	9037											
PCLO	27445	mdanderson.org	37	chr7	82583012	82583012	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggggaggagggggtggTggtggaggaggaggaggagg	7	4	30	0	0	0	0	0	0	0	0	0	7	0	7	0	14	0	0	0	14	0	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr7:82583012T>G	ENST00000333891.9	-	5	7594	c.7257A>C	c.(7255-7257)ccA>ccC	p.P2419P	PCLO_ENST00000423517.2_Silent_p.P2419P|PCLO_ENST00000437081.1_5'Flank	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						gagggggtggtggtggaggag	0.507																																					p.P2419P													.	.			0			c.A7257C																																									SO:0001819	synonymous_variant	27445	exon5			GGGTGGTGGTGGA	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.7257A>C	7.37:g.82583012T>G			18	0.3333333333	6		12	0.25	3	NM_014510	0		0		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																					0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337368.5		NM_014510		G	82583012	T	G	82583012	2	3	121	1	0	0	0	0	0	0	0	1	11600	1683	59	4		4	PCLO	7	82583012	Silent	SNP	T	TCGA-XE-AAOC-01A-11D-A435-10	9721327	82583012	76555651	29	9038											
NAPEPLD	222236	bcgsc.ca	37	chr7	102760577	102760577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaccgtggcatgtcccaGccatgtgactcttaagccag	9	10	9	13	1	1	1	0	1	1	0	2	1	2	1	4	1	3	1	4	1	2	2			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr7:102760577G>T	ENST00000417955.1	-	3	542	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L203M|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L130M|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L130M|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L130M			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	130					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCATGTCCCAGCCATGTGACT	0.473																																					p.L130M													.	NAPEPLD	49		0			c.C388A												139	116	124					7																	102760577		2203	4300	6503	SO:0001583	missense	222236	exon3			GTCCCAGCCATGT	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.388C>A	7.37:g.102760577G>T	ENSP00000407112:p.Leu130Met		76	0	0		50	0.08	4	NM_001122838	12	0	0	Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216562	0.79352	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.94621	0.8266	L	0.61218	1.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.985	D	0.93635	0.6959	10	0.48119	T	0.1	-34.7372	11.7782	0.51997	0.1349:0.0:0.8651:0.0	.	203;130	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	M	130;130;130;130;203	ENSP00000340093:L130M;ENSP00000407112:L130M;ENSP00000419188:L130M;ENSP00000392775:L130M;ENSP00000414364:L203M	ENSP00000340093:L130M	L	-	1	2	NAPEPLD	102547813	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.846000	0.48262	2.865000	0.98341	0.655000	0.94253	CTG			0.473	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347904.1		NM_198990		T	102760577	G	T	102760577	3	4	121	1	0	0	0	0	1	0	0	0	10179	962	34	2	805	2	NAPEPLD	7	102760577	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	20177565	102760577	56378086	30	9039											
NAMPT	10135	broad.mit.edu	37	chr7	105893479	105893479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacctgaccatattcctcaAggtctccttttccttcctcc	7	15	3	16	0	2	1	1	1	1	0	7	1	6	1	7	1	1	0	7	1	3	6			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr7:105893479A>G	ENST00000222553.3	-	10	1656	c.1349T>C	c.(1348-1350)cTt>cCt	p.L450P		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	450					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATATTCCTCAAGGTCTCCTTT	0.398																																					p.L450P													.	NAMPT	37		0			c.T1349C												96	93	94					7																	105893479		2203	4300	6503	SO:0001583	missense	10135	exon10			TCCTCAAGGTCTC	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"visfatin"	608764	"pre-B-cell colony enhancing factor 1"	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1349T>C	7.37:g.105893479A>G	ENSP00000222553:p.Leu450Pro		246	0	0		186	0.03	5	NM_005746	68	0	0	A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.253644	0.39797	.	.	ENSG00000105835	ENST00000222553	.	.	.	5.36	5.36	0.76844	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.061211	0.64402	D	0.000002	T	0.28928	0.0718	N	0.02296	-0.605	0.80722	D	1	B	0.23185	0.081	B	0.20955	0.032	T	0.14062	-1.0486	9	0.26408	T	0.33	-3.0974	15.638	0.76970	1.0:0.0:0.0:0.0	.	450	P43490	NAMPT_HUMAN	P	450	.	ENSP00000222553:L450P	L	-	2	0	NAMPT	105680715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.423000	0.90264	2.158000	0.67659	0.533000	0.62120	CTT			0.398	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000277146.1		NM_182790		G	105893479	A	G	105893479	3	3	121	1	0	0	0	0	1	0	0	0	10165	72	3	4	134	4	NAMPT	7	105893479	Missense_Mutation	SNP	A	TCGA-XE-AAOC-01A-11D-A435-10	3132902	105893479	53245184	31	9040											
OR2A25	392138	bcgsc.ca;mdanderson.org	37	chr7	143771911	143771911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaggtaatggttttggCaggggcagtgtctgtgctgg	7	13	17	4	0	1	1	0	1	1	0	1	1	1	1	0	6	1	5	0	6	2	4			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr7:143771911C>T	ENST00000408898.2	+	1	637	c.599C>T	c.(598-600)gCa>gTa	p.A200V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	200						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(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ATGGTTTTGGCAGGGGCAGTG	0.443																																					p.A200V													.	OR2A25	66		0			c.C599T												136	141	139					7																	143771911		2035	4219	6254	SO:0001583	missense	392138	exon1			TTTTGGCAGGGGC		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.599C>T	7.37:g.143771911C>T	ENSP00000386167:p.Ala200Val		127	0	0		105	0.05	5	NM_001004488	0		0	B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	0.184	-1.059463	0.01950	.	.	ENSG00000221933	ENST00000408898	T	0.00031	8.89	4.84	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.04880	-0.145	0.09310	N	1	B	0.17667	0.023	B	0.26693	0.072	T	0.15492	-1.0435	9	0.02654	T	1	-0.8758	5.336	0.15957	0.0:0.6776:0.0:0.3224	.	200	A4D2G3	O2A25_HUMAN	V	200	ENSP00000386167:A200V	ENSP00000386167:A200V	A	+	2	0	OR2A25	143402844	0.000000	0.05858	0.767000	0.31495	0.009000	0.06853	-0.035000	0.12205	1.262000	0.44165	0.563000	0.77884	GCA			0.443	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350000.1				T	143771911	C	T	143771911	3	4	121	1	0	0	0	0	1	0	0	0	10995	710	25	2	601	2	OR2A25	7	143771911	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	37878432	143771911	15366752	32	9041											
ESYT2	57488	bcgsc.ca	37	chr7	158552222	158552222	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaagatcagcaatgcagaGgaaagaccatcgttggcttg	14	8	11	8	1	1	3	1	0	0	3	2	4	1	4	1	2	3	4	1	2	4	3			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr7:158552222G>T	ENST00000251527.5	-	13	1583	c.1518C>A	c.(1516-1518)tcC>tcA	p.S506S		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	534					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GCAATGCAGAGGAAAGACCAT	0.468																																					p.S506S													ESYT2,colon,carcinoma,-2,1	ESYT2	70	1	0			c.C1518A												170	147	154					7																	158552222		2203	4300	6503	SO:0001819	synonymous_variant	57488	exon13			TGCAGAGGAAAGA	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1518C>A	7.37:g.158552222G>T			69	0	0		48	0.08	4	NM_020728	44	0	0	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	CCDS34791.1																																																																																					0.468	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322647.1		NM_020728		T	158552222	G	T	158552222	2	4	121	1	0	0	0	0	0	0	0	1	5272	987	35	3		3	ESYT2	7	158552222	Silent	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	14780311	158552222	586441	33	9042											
LYPLA1	10434	mdanderson.org	37	chr8	54965242	54965242	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggaagcccgaagtggaagCcagcaactgagtgcagtgac	14	4	14	9	1	0	2	0	2	0	0	0	5	0	4	2	2	5	2	2	2	5	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr8:54965242C>T	ENST00000316963.3	-	7	628	c.435G>A	c.(433-435)tgG>tgA	p.W145*	LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000519926.1_5'Flank|LYPLA1_ENST00000343231.6_Nonsense_Mutation_p.W129*	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	145					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)	p.W145C(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GAAGTGGAAGCCAGCAACTGA	0.448																																					p.W145X													LYPLA1,colon,carcinoma,0,2	LYPLA1	0	2	1	Substitution - Missense(1)	central_nervous_system(1)	c.G435A												71	64	67					8																	54965242		2203	4300	6503	SO:0001587	stop_gained	10434	exon7			TGGAAGCCAGCAA	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.435G>A	8.37:g.54965242C>T	ENSP00000320043:p.Trp145*		60	0	0		46	0.07	3	NM_006330	53	0	0	O43202|Q9UQF9	Nonsense_Mutation	SNP	ENST00000316963.3	37	CCDS6157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737925	0.96865	.	.	ENSG00000120992	ENST00000316963;ENST00000343231;ENST00000521171;ENST00000518546;ENST00000521352	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.9796	18.0108	0.89222	0.0:1.0:0.0:0.0	.	.	.	.	X	145;129;54;129;81	.	ENSP00000320043:W145X	W	-	3	0	LYPLA1	55127795	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.510000	0.81708	2.414000	0.81942	0.650000	0.86243	TGG			0.448	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378238.1				T	54965242	C	T	54965242	4	4	121	1	0	0	0	0	0	1	0	0	9132	740	26	2	269	2	LYPLA1	8	54965242	Nonsense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10		54965242	91398780	34	9043											
GSDMD	79792	mdanderson.org	37	chr8	144644277	144644277	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgctgcgggaccagctGgccctgcgagccttggagga	5	6	19	11	2	0	0	0	0	0	0	0	4	0	3	3	6	5	2	3	6	0	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr8:144644277G>T	ENST00000526406.1	+	11	1855	c.972G>T	c.(970-972)ctG>ctT	p.L324L	GSDMD_ENST00000533063.1_Silent_p.L372L|GSDMD_ENST00000262580.4_Silent_p.L324L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	324					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGGACCAGCTGGCCCTGCGAG	0.687																																					p.L324L													.	.			0			c.G972T												29	32	31					8																	144644277		2200	4300	6500	SO:0001819	synonymous_variant	79792	exon11			CCAGCTGGCCCTG	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.972G>T	8.37:g.144644277G>T			15	0	0		18	0.11	2	NM_001166237	31	0	0	D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	G	3.510	-0.100032	0.07010	.	.	ENSG00000104518	ENST00000525208	.	.	.	4.39	-3.56	0.04626	.	.	.	.	.	T	0.17619	0.0423	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24584	-1.0156	4	.	.	.	-12.5715	1.164	0.01811	0.3596:0.2755:0.2325:0.1324	.	.	.	.	C	20	.	.	G	+	1	0	GSDMD	144715420	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.337000	0.07852	-0.763000	0.04658	-0.390000	0.06520	GGC			0.687	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382046.3		NM_024736		T	144644277	G	T	144644277	2	4	121	1	0	0	0	0	0	0	0	1	6834	1335	47	3		3	GSDMD	8	144644277	Silent	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	89679035	144644277	1719745	35	9044											
KIFC2	90990	mdanderson.org	37	chr8	145692490	145692490	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggcccggcggacctgggCcaggtgagcgcggcggaggg	4	2	24	11	5	0	1	0	1	0	0	0	3	0	3	3	9	1	0	3	9	0	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr8:145692490C>T	ENST00000301332.2	+	3	704	c.327C>T	c.(325-327)ggC>ggT	p.G109G	CYHR1_ENST00000403000.2_5'Flank|CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank|CYHR1_ENST00000306145.5_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|KIFC2_ENST00000301331.5_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	109					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)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|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;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGGACCTGGGCCAGGTGAGCG	0.711											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G109G													.	.			0			c.C327T												9	12	11					8																	145692490		2147	4227	6374	SO:0001819	synonymous_variant	90990	exon3			CCTGGGCCAGGTG	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.327C>T	8.37:g.145692490C>T			57	0	0	1696	31	0.1	3	NM_145754	25	0	0	E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	CCDS6427.1																																																																																					0.711	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382052.2		NM_145754		T	145692490	C	T	145692490	2	4	121	1	0	0	0	0	0	0	0	1	8328	726	26	2		2	KIFC2	8	145692490	Silent	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	1048213	145692490	671532	36	9045											
PPP1R16A	84988	mdanderson.org	37	chr8	145722649	145722649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacacaggagcggctgaaGcatgcccagaagcggcgcgc	11	2	15	13	4	0	2	0	1	0	1	0	3	0	3	1	3	5	3	1	3	2	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr8:145722649G>T	ENST00000292539.4	+	2	989	c.72G>T	c.(70-72)aaG>aaT	p.K24N	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.K24N|PPP1R16A_ENST00000529009.1_3'UTR|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	24						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	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)			AGCGGCTGAAGCATGCCCAGA	0.682																																					p.K24N													.	.			0			c.G72T												28	26	27					8																	145722649		2196	4296	6492	SO:0001583	missense	84988	exon1			GCTGAAGCATGCC		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.72G>T	8.37:g.145722649G>T	ENSP00000292539:p.Lys24Asn		35	0	0		36	0.08	3	NM_032902	109	0	0	D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102087	0.76983	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.72051	-0.62;-0.62	4.81	1.52	0.23074	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.66506	2.035	0.52501	D	0.999957	P	0.42483	0.781	B	0.41466	0.358	T	0.55939	-0.8061	10	0.14252	T	0.57	.	6.8242	0.23874	0.3956:0.0:0.6044:0.0	.	24	Q96I34	PP16A_HUMAN	N	24	ENSP00000292539:K24N;ENSP00000391126:K24N	ENSP00000292539:K24N	K	+	3	2	PPP1R16A	145693457	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.494000	0.35616	0.465000	0.27167	0.462000	0.41574	AAG			0.682	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382459.1		NM_032902		T	145722649	G	T	145722649	3	4	121	1	0	0	0	0	1	0	0	0	12385	962	34	2	74	2	PPP1R16A	8	145722649	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	30159	145722649	641373	37	9046											
TAF1L	138474	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	32632961	32632961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgaatccatccctgtgcGtttgaagtcagcgcagagct	8	12	11	10	2	1	3	1	2	0	1	3	3	3	3	2	0	3	4	2	0	2	2			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr9:32632961G>A	ENST00000242310.4	-	1	2706	c.2617C>T	c.(2617-2619)Cgc>Tgc	p.R873C	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	873					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)		ATCCCTGTGCGTTTGAAGTCA	0.483																																					p.R873C													TAF1L,rectum,carcinoma,0,2	TAF1L	0	2	0			c.C2617T												147	147	147					9																	32632961		2203	4300	6503	SO:0001583	missense	138474	exon1			CTGTGCGTTTGAA	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.2617C>T	9.37:g.32632961G>A	ENSP00000418379:p.Arg873Cys		332	0	0		372	0.31	115	NM_153809	1	0	0	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548593	0.45383	.	.	ENSG00000122728	ENST00000242310	T	0.20332	2.08	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55231	-0.8173	10	0.87932	D	0	.	7.8312	0.29344	0.0:0.0:1.0:0.0	.	873	Q8IZX4	TAF1L_HUMAN	C	873	ENSP00000418379:R873C	ENSP00000418379:R873C	R	-	1	0	TAF1L	32622961	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	6.138000	0.71717	0.632000	0.30432	0.195000	0.17529	CGC			0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052012.2				A	32632961	G	A	32632961	3	1	121	1	0	0	0	0	1	0	0	0	15546	1145	40	1	2867	1	TAF1L	9	32632961	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		32632961	108580470	38	9047											
NIPSNAP3A	25934	bcgsc.ca	37	chr9	107510105	107510105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcgccctgactcgggCgctggcctcacggacgctgg	6	5	15	15	5	1	2	1	1	0	1	2	3	1	3	2	4	1	2	2	4	1	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	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																																					p.A11V													.	NIPSNAP3A	18		0			c.C32T												11	13	12					9																	107510105		2195	4281	6476	SO:0001583	missense	25934	exon1			CTCGGGCGCTGGC	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		37	0	0		30	0.13	4	NM_015469	54	0	0	A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	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		T	107510105	C	T	107510105	3	4	121	1	0	0	0	0	1	0	0	0	10447	768	27	1	34	1	NIPSNAP3A	9	107510105	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	74877144	107510105	33703326	39	9048											
PIP5KL1	138429	mdanderson.org	37	chr9	130687406	130687406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggccgtgcggaagatgagGctgctgcccgggcccctctc	4	7	15	15	3	1	2	0	1	1	1	2	3	1	3	4	4	3	2	4	4	1	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr9:130687406G>T	ENST00000388747.4	-	9	941	c.897C>A	c.(895-897)agC>agA	p.S299R	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.S96R|PIP5KL1_ENST00000490773.1_5'Flank	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	299	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GGAAGATGAGGCTGCTGCCCG	0.602																																					p.S299R													.	.			0			c.C897A												77	81	80					9																	130687406		2203	4300	6503	SO:0001583	missense	138429	exon9			GATGAGGCTGCTG	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.897C>A	9.37:g.130687406G>T	ENSP00000373399:p.Ser299Arg		68	0	0		46	0.07	3	NM_001135219	7	0	0	Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	37	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632750	0.29068	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.36340	1.26;1.26	4.83	0.799	0.18667	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	1.101760	0.06748	N	0.779531	T	0.32675	0.0837	L	0.46885	1.475	0.09310	N	1	B	0.25206	0.12	B	0.31016	0.123	T	0.37291	-0.9712	10	0.17832	T	0.49	-3.7642	9.502	0.39024	0.3155:0.0:0.6845:0.0	.	299	Q5T9C9	PI5L1_HUMAN	R	299;96	ENSP00000373399:S299R;ENSP00000300432:S96R	ENSP00000300432:S96R	S	-	3	2	PIP5KL1	129727227	0.011000	0.17503	0.002000	0.10522	0.185000	0.23345	1.132000	0.31418	0.186000	0.20125	0.491000	0.48974	AGC			0.602	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054289.2		NM_173492		T	130687406	G	T	130687406	3	4	121	1	0	0	0	0	1	0	0	0	11959	1194	42	2	295	2	PIP5KL1	9	130687406	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	23177301	130687406	10526025	40	9049											
PIP5KL1	138429	mdanderson.org	37	chr9	130692148	130692148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgcatccagcctcaGgggagggggccaggacctgg	6	6	16	13	0	2	0	1	0	1	0	3	2	3	2	4	6	3	2	4	6	0	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr9:130692148G>T	ENST00000388747.4	-	2	91	c.47C>A	c.(46-48)cCt>cAt	p.P16H	PIP5KL1_ENST00000300432.3_5'Flank|PIP5KL1_ENST00000490773.1_5'Flank	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	16						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TCCAGCCTCAGGGGAGGGGGC	0.637																																					p.P16H													.	.			0			c.C47A												6	8	7					9																	130692148		1461	3345	4806	SO:0001583	missense	138429	exon2			GCCTCAGGGGAGG	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.47C>A	9.37:g.130692148G>T	ENSP00000373399:p.Pro16His		26	0	0		24	0.08	2	NM_001135219	0		0	Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	37	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345142	0.24426	.	.	ENSG00000167103	ENST00000388747	T	0.43294	0.95	4.99	4.06	0.47325	.	0.320500	0.25854	N	0.027861	T	0.33904	0.0879	N	0.24115	0.695	0.80722	D	1	D	0.56746	0.977	P	0.49708	0.62	T	0.03249	-1.1056	10	0.19147	T	0.46	-4.1217	10.7221	0.46046	0.0:0.0:0.8092:0.1908	.	16	Q5T9C9	PI5L1_HUMAN	H	16	ENSP00000373399:P16H	ENSP00000373399:P16H	P	-	2	0	PIP5KL1	129731969	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	2.536000	0.45693	1.146000	0.42352	0.561000	0.74099	CCT			0.637	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054289.2		NM_173492		T	130692148	G	T	130692148	3	4	121	1	0	0	0	0	1	0	0	0	11959	1000	35	3	1173	3	PIP5KL1	9	130692148	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	4742	130692148	10521283	41	9050											
COBRA1	25920	mdanderson.org	37	chr9	140150062	140150062	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccatcgagcagttccAggtggggcggcccccggggc	6	4	17	14	3	0	0	0	0	0	0	2	1	1	0	4	7	1	2	4	7	1	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr9:140150062A>G	ENST00000343053.4	+	1	438	c.101A>G	c.(100-102)cAg>cGg	p.Q34R		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	34					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)											GAGCAGTTCCAGGTggggcgg	0.716																																					p.Q34R													.	.			0			c.A101G												10	9	10					9																	140150062		1981	3901	5882	SO:0001630	splice_region_variant	25920	exon1			AGTTCCAGGTGGG	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.102+1A>G	9.37:g.140150062A>G			60	0.0166666667	1		43	0.07	3	NM_015456	99	0	0	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.991260	0.93106	.	.	ENSG00000188986	ENST00000343053	.	.	.	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	M	0.73217	2.22	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.76804	-0.2824	9	0.59425	D	0.04	-45.9688	10.4726	0.44646	1.0:0.0:0.0:0.0	.	34	Q8WX92	NELFB_HUMAN	R	34	.	ENSP00000339495:Q34R	Q	+	2	0	COBRA1	139269883	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.190000	0.72057	1.752000	0.51891	0.459000	0.35465	CAG			0.716	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254710.1		NM_015456	Missense_Mutation	G	140150062	A	G	140150062	5	3	121	1	0	0	0	0	0	0	1	0	3657	202	7	4	103	4	COBRA1	9	140150062	Splice_Site	SNP	A	TCGA-XE-AAOC-01A-11D-A435-10	9457914	140150062	1063369	42	9051											
GPR158	57512	mdanderson.org	37	chr10	25883231	25883231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttcagatttgttcttGcctcaagacttcagtctgat	8	17	6	10	0	6	3	4	1	2	2	6	3	6	3	1	0	1	1	1	0	1	5			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr10:25883231G>T	ENST00000376351.3	+	9	2262	c.1903G>T	c.(1903-1905)Gcc>Tcc	p.A635S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	635					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						ATTTGTTCTTGCCTCAAGACT	0.358																																					p.A635S													.	.			0			c.G1903T												175	158	164					10																	25883231		2203	4300	6503	SO:0001583	missense	57512	exon9			GTTCTTGCCTCAA	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.1903G>T	10.37:g.25883231G>T	ENSP00000365529:p.Ala635Ser		51	0.0196078431	1		48	0.06	3	NM_020752	0		0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776226	0.49786	.	.	ENSG00000151025	ENST00000376351	D	0.87334	-2.24	5.62	5.62	0.85841	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.86736	0.6004	L	0.51422	1.61	0.40549	D	0.981101	B	0.24092	0.097	B	0.38327	0.271	T	0.82118	-0.0615	10	0.21014	T	0.42	.	15.9703	0.80008	0.0:0.0:0.8648:0.1352	.	635	Q5T848	GP158_HUMAN	S	635	ENSP00000365529:A635S	ENSP00000365529:A635S	A	+	1	0	GPR158	25923237	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	5.752000	0.68728	2.628000	0.89032	0.650000	0.86243	GCC			0.358	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047248.2		XM_166110		T	25883231	G	T	25883231	3	4	121	1	0	0	0	0	1	0	0	0	6677	1319	46	2	1937	2	GPR158	10	25883231	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		25883231	109651516	43	9052											
TNKS2	80351	mdanderson.org	37	chr10	93617191	93617191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attttttatagattcagaagGtttgtaacaagaaactatgg	15	15	8	3	0	1	3	1	0	0	3	1	3	1	3	0	2	2	2	0	2	7	8			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr10:93617191G>T	ENST00000371627.4	+	24	3377	c.2998G>T	c.(2998-3000)Gtt>Ttt	p.V1000F		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1000	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GATTCAGAAGGTTTGTAACAA	0.333																																					p.V1000F													.	.			0			c.G2998T												74	77	76					10																	93617191		2202	4300	6502	SO:0001583	missense	80351	exon24			CAGAAGGTTTGTA	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2998G>T	10.37:g.93617191G>T	ENSP00000360689:p.Val1000Phe		79	0	0		51	0.06	3	NM_025235	44	0	0	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021352	0.93462	.	.	ENSG00000107854	ENST00000371627	T	0.21191	2.02	5.38	5.38	0.77491	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.48286	D	0.000188	T	0.59142	0.2172	M	0.93638	3.44	0.80722	D	1	D	0.71674	0.998	D	0.70716	0.97	T	0.70506	-0.4853	10	0.87932	D	0	.	19.4945	0.95067	0.0:0.0:1.0:0.0	.	1000	Q9H2K2	TNKS2_HUMAN	F	1000	ENSP00000360689:V1000F	ENSP00000360689:V1000F	V	+	1	0	TNKS2	93607171	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.694000	0.91930	0.557000	0.71058	GTT			0.333	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049374.1		NM_025235		T	93617191	G	T	93617191	3	4	121	1	0	0	0	0	1	0	0	0	16344	1261	44	3	3092	3	TNKS2	10	93617191	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	67733960	93617191	41917556	44	9053											
B4GALNT4	338707	mdanderson.org	37	chr11	375478	375478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcgagctttcctgccCggcctgaagttcgaggtcat	6	10	13	12	3	1	1	1	1	0	0	3	3	2	1	3	3	2	2	3	3	1	2			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr11:375478C>T	ENST00000329962.6	+	9	801	c.801C>T	c.(799-801)ccC>ccT	p.P267P		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	267					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)	p.P267P(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTTCCTGCCCGGCCTGAAGT	0.672																																					p.P267P													B4GALNT4,NS,carcinoma,0,1	B4GALNT4	0	1	1	Substitution - coding silent(1)	kidney(1)	c.C801T												94	99	97					11																	375478		2203	4296	6499	SO:0001819	synonymous_variant	338707	exon9			CCTGCCCGGCCTG	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.801C>T	11.37:g.375478C>T			49	0	0		43	0.07	3	NM_178537	203	0	1	Q96LV2	Silent	SNP	ENST00000329962.6	37	CCDS7694.1																																																																																					0.672	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239289.2		NM_178537		T	375478	C	T	375478	2	4	121	1	0	0	0	0	0	0	0	1	1269	639	23	1		1	B4GALNT4	11	375478	Silent	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10		375478	134631038	45	9054											
TTC17	55761	mdanderson.org	37	chr11	43469622	43469622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaactccgctgggtagaGctgactgccatcgtgagtac	9	9	11	12	2	1	3	1	2	0	1	3	3	2	3	2	1	4	4	2	1	3	2			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr11:43469622G>T	ENST00000039989.4	+	19	2750	c.2736G>T	c.(2734-2736)gaG>gaT	p.E912D		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	912					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCTGGGTAGAGCTGACTGCCA	0.488																																					p.E912D													.	.			0			c.G2736T												90	77	81					11																	43469622		2203	4300	6503	SO:0001583	missense	55761	exon19			GGTAGAGCTGACT	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2736G>T	11.37:g.43469622G>T	ENSP00000039989:p.Glu912Asp		62	0	0		45	0.07	3	NM_018259	74	0	0	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757662	0.31137	.	.	ENSG00000052841	ENST00000039989	T	0.31247	1.5	5.91	4.82	0.62117	.	0.050116	0.85682	D	0.000000	T	0.18718	0.0449	N	0.12746	0.255	0.36679	D	0.878923	B	0.06786	0.001	B	0.04013	0.001	T	0.10086	-1.0645	10	0.21540	T	0.41	-20.6752	15.9715	0.80025	0.0747:0.0:0.9253:0.0	.	912	Q96AE7	TTC17_HUMAN	D	912	ENSP00000039989:E912D	ENSP00000039989:E912D	E	+	3	2	TTC17	43426198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.909000	0.48758	2.804000	0.96469	0.650000	0.86243	GAG			0.488	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389577.2		NM_018259		T	43469622	G	T	43469622	3	4	121	1	0	0	0	0	1	0	0	0	16708	962	34	2	2810	2	TTC17	11	43469622	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	43094144	43469622	91536894	46	9055											
LRP4	4038	mdanderson.org	37	chr11	46918500	46918500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggacaggcggacacagCggcctgagtgacagcggaac	11	2	16	12	3	0	2	0	2	0	0	0	5	0	5	2	5	3	0	2	5	1	0	rs146670859		TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr11:46918500C>T	ENST00000378623.1	-	8	1084	c.842G>A	c.(841-843)cGc>cAc	p.R281H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	281	LDL-receptor class A 7. {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)		GCGGACACAGCGGCCTGAGTG	0.572																																					p.R281H													.	.			0			c.G842A							C	HIS/ARG	0,4402		0,0,2201	132	115	121		842	5.8	1	11	dbSNP_134	121	1,8597	1.2+/-3.3	0,1,4298	no	missense	LRP4	NM_002334.3	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	281/1906	46918500	1,12999	2201	4299	6500	SO:0001583	missense	4038	exon8			ACACAGCGGCCTG	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.842G>A	11.37:g.46918500C>T	ENSP00000367888:p.Arg281His		60	0	0		39	0.08	3	NM_002334	4	0	0	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120577	0.94385	0.0	1.16E-4	ENSG00000134569	ENST00000378623	T	0.42131	0.98	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.38692	1.165	0.80722	D	1	D	0.58268	0.982	P	0.49387	0.609	T	0.41448	-0.9508	10	0.59425	D	0.04	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	281	O75096	LRP4_HUMAN	H	281	ENSP00000367888:R281H	ENSP00000367888:R281H	R	-	2	0	LRP4	46875076	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	CGC	0		0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391133.1		NM_002334		T	46918500	C	T	46918500	3	4	121	1	0	0	0	0	1	0	0	0	8975	768	27	1	4999	1	LRP4	11	46918500	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	3448878	46918500	88088016	47	9056											
TCIRG1	10312	mdanderson.org	37	chr11	67817183	67817183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggccatggtgcccatcctGctgcttggcacacccctgca	5	10	10	16	0	0	0	0	0	0	0	1	0	1	0	5	3	4	4	5	3	0	2			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr11:67817183G>A	ENST00000265686.3	+	16	2049	c.1941G>A	c.(1939-1941)ctG>ctA	p.L647L	RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|TCIRG1_ENST00000532635.1_Silent_p.L431L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	647					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGCCCATCCTGCTGCTTGGCA	0.716																																					p.L647L													.	.			0			c.G1941A												20	18	18					11																	67817183		2192	4288	6480	SO:0001819	synonymous_variant	10312	exon16			CATCCTGCTGCTT	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1941G>A	11.37:g.67817183G>A			28	0	0		14	0.14	2	NM_006019	103	0	0	O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	CCDS8177.1																																																																																					0.716	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394305.1		NM_006019		A	67817183	G	A	67817183	2	1	121	1	0	0	0	0	0	0	0	1	15726	1306	46	2		2	TCIRG1	11	67817183	Silent	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	20898683	67817183	67189333	48	9057											
AQP11	282679	mdanderson.org	37	chr11	77320415	77320415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaccatacaattaataaaaAggaataactgttccaaagac	21	8	4	8	0	0	1	0	0	0	1	1	2	1	2	2	1	3	1	2	1	10	5			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr11:77320415A>G	ENST00000313578.3	+	3	1167	c.809A>G	c.(808-810)aAg>aGg	p.K270R	AQP11_ENST00000528638.1_3'UTR|CLNS1A_ENST00000533957.1_5'Flank	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	270					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			ATTAATAAAAAGGAATAACTG	0.353																																					p.K270R													.	.			0			c.A809G												101	97	98					11																	77320415		2199	4292	6491	SO:0001583	missense	282679	exon3			ATAAAAAGGAATA	AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"Ion channels / Aquaporins"	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.809A>G	11.37:g.77320415A>G	ENSP00000318770:p.Lys270Arg		54	0	0		38	0.08	3	NM_173039	19	0	0		Missense_Mutation	SNP	ENST00000313578.3	37	CCDS8251.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043213	0.36085	.	.	ENSG00000178301	ENST00000313578	T	0.47528	0.84	5.09	1.53	0.23141	Aquaporin-like (1);	0.769687	0.12378	N	0.474171	T	0.24431	0.0592	N	0.08118	0	0.24027	N	0.996121	B	0.02656	0.0	B	0.06405	0.002	T	0.17745	-1.0359	10	0.33141	T	0.24	.	6.6853	0.23142	0.7265:0.0:0.2735:0.0	.	270	Q8NBQ7	AQP11_HUMAN	R	270	ENSP00000318770:K270R	ENSP00000318770:K270R	K	+	2	0	AQP11	76998063	1.000000	0.71417	0.938000	0.37757	0.963000	0.63663	0.649000	0.24843	0.103000	0.17682	0.477000	0.44152	AAG			0.353	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382582.1		NM_173039		G	77320415	A	G	77320415	3	3	121	1	0	0	0	0	1	0	0	0	823	72	3	4	819	4	AQP11	11	77320415	Missense_Mutation	SNP	A	TCGA-XE-AAOC-01A-11D-A435-10	9503232	77320415	57686101	49	9058											
KDM5A	5927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	432911	432911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgctcatcatcaggaaCaagttcaaacacttcttctt	11	12	5	13	1	6	0	4	0	2	0	6	1	6	1	1	1	3	2	1	1	3	4			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr12:432911C>T	ENST00000399788.2	-	15	2367	c.2005G>A	c.(2005-2007)Gtt>Att	p.V669I	KDM5A_ENST00000382815.4_Missense_Mutation_p.V669I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	669					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						TCATCAGGAACAAGTTCAAAC	0.398			T	NUP98	AML																																p.V669I				Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	.	.			0			c.G2005A												127	126	126					12																	432911		1934	4156	6090	SO:0001583	missense	5927	exon15			CAGGAACAAGTTC		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.2005G>A	12.37:g.432911C>T	ENSP00000382688:p.Val669Ile		177	0	0		316	0.2	62	NM_001042603	43	0.09	4	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157848	0.57368	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;D	0.84944	-1.92;-1.73;-1.53	6.03	6.03	0.97812	.	0.130106	0.52532	D	0.000068	T	0.75925	0.3916	N	0.04508	-0.205	0.45194	D	0.998204	B;B;B;P	0.35700	0.243;0.018;0.012;0.516	B;B;B;B	0.38755	0.097;0.022;0.004;0.281	T	0.76844	-0.2809	10	0.45353	T	0.12	-19.2821	20.5568	0.99304	0.0:1.0:0.0:0.0	.	288;669;669;669	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	I	288;628;669;669;288	ENSP00000382688:V669I;ENSP00000372265:V669I;ENSP00000440622:V288I	ENSP00000261253:V288I	V	-	1	0	KDM5A	303172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.438000	0.44837	2.861000	0.98227	0.655000	0.94253	GTT			0.398	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397812.1		NM_005056		T	432911	C	T	432911	3	4	121	1	0	0	0	0	1	0	0	0	8148	478	17	3	3123	3	KDM5A	12	432911	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10		432911	133418984	50	9059											
AEBP2	121536	mdanderson.org	37	chr12	19593200	19593200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggcggcgacgagggctaCgggactgggggaggcggaag	8	2	23	8	6	0	0	0	0	0	0	0	5	0	3	0	8	2	1	0	8	2	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr12:19593200C>T	ENST00000398864.3	+	1	593	c.567C>T	c.(565-567)taC>taT	p.Y189Y	AEBP2_ENST00000266508.9_Silent_p.Y189Y|AEBP2_ENST00000541908.1_Intron|AEBP2_ENST00000360995.4_5'Flank	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	189	Gly-rich.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	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)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					acgagggctacgggactgggg	0.746																																					p.Y189Y													.	.			0			c.C567T												2	6	5					12																	19593200		522	1364	1886	SO:0001819	synonymous_variant	121536	exon1			GGGCTACGGGACT		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.567C>T	12.37:g.19593200C>T			9	0	0		16	0.13	2	NM_001114176	15	0	0	Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	ENST00000398864.3	37	CCDS44841.1																																																																																					0.746	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000401575.1		NM_153207		T	19593200	C	T	19593200	2	4	121	1	0	0	0	0	0	0	0	1	350	547	19	1		1	AEBP2	12	19593200	Silent	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	19160289	19593200	114258695	51	9060											
HSP90B1	7184	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr12	104333319	104333319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgggactgggaacttatGaatgatatcaaaccaatatg	14	11	10	6	0	2	2	1	2	1	0	2	4	2	4	1	2	2	0	1	2	7	3			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr12:104333319G>A	ENST00000299767.5	+	8	1190	c.1008G>A	c.(1006-1008)atG>atA	p.M336I		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	336					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)	GGGAACTTATGAATGATATCA	0.333																																					p.M336I													.	HSP90B1	72		0			c.G1008A												110	115	114					12																	104333319		2203	4300	6503	SO:0001583	missense	7184	exon8			ACTTATGAATGAT	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.1008G>A	12.37:g.104333319G>A	ENSP00000299767:p.Met336Ile		238	0.0042016807	1		242	0.1	23	NM_003299	1078	0.18	191	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589086	0.46110	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.08984	3.03	5.5	5.5	0.81552	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.04679	0.0127	N	0.01705	-0.755	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.51702	-0.8672	10	0.32370	T	0.25	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	336	P14625	ENPL_HUMAN	I	336;86	ENSP00000299767:M336I	ENSP00000299767:M336I	M	+	3	0	HSP90B1	102857449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.568000	0.86640	0.650000	0.86243	ATG			0.333	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407349.1		NM_003299		A	104333319	G	A	104333319	3	1	121	1	0	0	0	0	1	0	0	0	7418	1290	45	3	1038	3	HSP90B1	12	104333319	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	84740119	104333319	29518576	52	9061											
PDS5B	23047	mdanderson.org	37	chr13	33222915	33222915	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatatttctgtcatggcTcattcaaagactaggaccaa	15	11	7	8	0	4	2	3	0	1	2	4	3	4	3	1	2	0	1	1	2	5	4	rs534207351		TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr13:33222915T>C	ENST00000315596.10	+	2	192	c.6T>C	c.(4-6)gcT>gcC	p.A2A		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	2					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)		CTGTCATGGCTCATTCAAAGA	0.333																																					p.A2A													.	.			0			c.T6C												99	99	99					13																	33222915		1824	4066	5890	SO:0001819	synonymous_variant	23047	exon2			CATGGCTCATTCA	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.6T>C	13.37:g.33222915T>C			41	0	0		37	0.08	3	NM_015032	5	0	0	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	CCDS41878.1																																																																																					0.333	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044428.3		NM_015032		C	33222915	T	C	33222915	2	2	121	1	0	0	0	0	0	0	0	1	11709	1538	54	4		4	PDS5B	13	33222915	Silent	SNP	T	TCGA-XE-AAOC-01A-11D-A435-10		33222915	81946963	53	9062											
CTSG	1511	mdanderson.org	37	chr14	25043631	25043631	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtgcacagcgtcccGggtctcagtccctcctgggc	5	7	12	17	2	1	0	1	0	1	0	5	0	4	0	4	2	2	1	4	2	0	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr14:25043631G>T	ENST00000216336.2	-	4	450	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	138	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ACAGCGTCCCGGGTCTCAGTC	0.607																																					p.P138P													.	.			0			c.C414A												107	102	104					14																	25043631		2203	4300	6503	SO:0001819	synonymous_variant	1511	exon4			CGTCCCGGGTCTC	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.414C>A	14.37:g.25043631G>T			37	0	0		43	0.07	3	NM_001911	5	0	0	Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	CCDS9631.1																																																																																					0.607	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276536.2		NM_001911		T	25043631	G	T	25043631	2	4	121	1	0	0	0	0	0	0	0	1	4037	1103	39	1		1	CTSG	14	25043631	Silent	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		25043631	82305909	54	9063											
C14orf145	145508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	81227824	81227824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagaatgttttacaagctGcatcaatttcctttcctatc	10	16	6	9	0	1	1	1	0	0	1	4	2	3	1	2	1	3	3	2	1	5	5			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr14:81227824G>A	ENST00000555265.1	-	17	2885	c.2510C>T	c.(2509-2511)gCa>gTa	p.A837V	CEP128_ENST00000281129.3_Missense_Mutation_p.A837V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	837						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						TTTACAAGCTGCATCAATTTC	0.368																																					p.A837V													.	.			0			c.C2510T												106	103	104					14																	81227824		2203	4300	6503	SO:0001583	missense	145508	exon16			CAAGCTGCATCAA	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.2510C>T	14.37:g.81227824G>A	ENSP00000451162:p.Ala837Val		138	0	0		144	0.1	14	NM_152446	12	0	0	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060188	0.36373	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000554728	T;T	0.35789	1.29;1.29	5.67	3.78	0.43462	.	0.299354	0.25380	N	0.031081	T	0.24005	0.0581	N	0.22421	0.69	0.80722	D	1	B	0.31548	0.328	B	0.34242	0.178	T	0.05451	-1.0884	10	0.27785	T	0.31	.	9.1932	0.37211	0.0744:0.0:0.7785:0.1471	.	837	Q6ZU80	CE128_HUMAN	V	837;837;837;38	ENSP00000281129:A837V;ENSP00000451162:A837V	ENSP00000281129:A837V	A	-	2	0	CEP128	80297577	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.875000	0.48491	1.346000	0.45694	0.655000	0.94253	GCA			0.368	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413415.1		NM_152446		A	81227824	G	A	81227824	3	1	121	1	0	0	0	0	1	0	0	0	1751	1319	46	2	810	2	C14orf145	14	81227824	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	56184193	81227824	26121716	55	9064											
ATXN3	4287	hgsc.bcm.edu	37	chr14	92537354	92537355	+	In_Frame_Ins	INS	-	-	CTG																															ctctgtcctgataggtccccINSctgctgctgctgctgctgct																								rs12895357	byFrequency	TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr14:92537354_92537355insCTG	ENST00000532032.1	-	10	924_925	c.915_916insCAG	c.(913-918)cagggg>cagCAGggg	p.305_306insQ	ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000429774.2_In_Frame_Ins_p.298_299insQ|ATXN3_ENST00000545170.1_In_Frame_Ins_p.314_315insQ|ATXN3_ENST00000393287.5_In_Frame_Ins_p.305_306insQ|ATXN3_ENST00000340660.6_In_Frame_Ins_p.250_251insQ|ATXN3_ENST00000502250.1_In_Frame_Ins_p.126_127insQ|ATXN3_ENST00000503767.1_In_Frame_Ins_p.290_291insQ			P54252	ATX3_HUMAN	ataxin 3	305	Poly-Gln.		G -> QQQQQQQQQQQQR. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7874163, ECO:0000269|PubMed:9274833}.		actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G306R(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GATAGGTCCCCctgctgctgct	0.446																																					p.G306delinsQG	Esophageal Squamous(190;752 2094 29897 44875 49530)												ATXN3,NS,carcinoma,0,7	ATXN3	46		1	Substitution - Missense(1)	lung(1)	c.916_917insCAG																																									SO:0001652	inframe_insertion	4287	exon10			GGTCCCCCTGCTG	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.913_915dupCAG	14.37:g.92537361_92537363dupCTG	ENSP00000437157:p.Gln305_Gln305dup		55	0	0		81	0.36	29	NM_004993	23	0	0	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	In_Frame_Ins	INS	ENST00000532032.1	37																																																																																						0.446	ATXN3-015	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000388065.1		NM_004993		CTG	92537355	-	CTG	92537354	7	5	121	1	0	1	1	0	0	0	0	0	1213	623	22	0	177	0	ATXN3	14	92537354	In_Frame_Ins	INS	-	TCGA-XE-AAOC-01A-11D-A435-10	11309530	92537354	14812186	56	9065											
XRCC3	7517	mdanderson.org	37	chr14	104169621	104169621	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggccatgagctgctgcagGcgcttgtgcgggaaggcgtc	5	8	18	10	3	0	1	0	1	0	0	1	2	0	2	1	4	4	4	1	4	1	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr14:104169621G>T	ENST00000553264.1	-	5	1246	c.450C>A	c.(448-450)cgC>cgA	p.R150R	XRCC3_ENST00000555055.1_Silent_p.R150R|XRCC3_ENST00000555832.1_5'Flank|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000554913.1_Silent_p.R150R|XRCC3_ENST00000352127.7_Silent_p.R150R|XRCC3_ENST00000445556.1_Silent_p.R150R			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	150					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		GCTGCTGCAGGCGCTTGTGCG	0.632								Direct reversal of damage;Homologous recombination																													p.R150R													.	.			0			c.C450A												39	31	34					14																	104169621		2182	4279	6461	SO:0001819	synonymous_variant	7517	exon7			CTGCAGGCGCTTG	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"RAD51-like"	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.450C>A	14.37:g.104169621G>T			26	0	0		35	0.09	3	NM_001100119	19	0	0	O43568|Q9BU18	Silent	SNP	ENST00000553264.1	37	CCDS9984.1																																																																																					0.632	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414631.1		NM_005432		T	104169621	G	T	104169621	2	4	121	1	0	0	0	0	0	0	0	1	17478	1190	42	2		2	XRCC3	14	104169621	Silent	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	11632267	104169621	3179919	57	9066											
TYRO3	7301	mdanderson.org	37	chr15	41859673	41859673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagcctcagggtgcgctGtgccaatgccttggggccct	5	9	13	14	1	1	0	1	0	0	0	1	0	1	0	4	3	5	1	4	3	2	2			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr15:41859673G>T	ENST00000263798.3	+	7	1123	c.899G>T	c.(898-900)tGt>tTt	p.C300F	TYRO3_ENST00000559066.1_Missense_Mutation_p.C255F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	300	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGGTGCGCTGTGCCAATGCC	0.637																																					p.C300F													.	.			0			c.G899T												99	99	99					15																	41859673		2203	4300	6503	SO:0001583	missense	7301	exon7			TGCGCTGTGCCAA	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.899G>T	15.37:g.41859673G>T	ENSP00000263798:p.Cys300Phe		57	0	0		46	0.07	3	NM_006293	32	0	0	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153323	0.78114	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.56611	0.45	4.64	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000302	T	0.71517	0.3349	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75519	-0.3289	10	0.87932	D	0	-10.2483	14.5246	0.67878	0.0:0.0:1.0:0.0	.	300	Q06418	TYRO3_HUMAN	F	232;300	ENSP00000263798:C300F	ENSP00000263798:C300F	C	+	2	0	TYRO3	39646965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.321000	0.79088	2.417000	0.82017	0.655000	0.94253	TGT			0.637	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252693.2				T	41859673	G	T	41859673	3	4	121	1	0	0	0	0	1	0	0	0	16838	1377	48	3	925	3	TYRO3	15	41859673	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		41859673	60671719	58	9067											
IL4R	3566	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	27353570	27353570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgtaccagctggtttttCtgctctccgagtaagcctgc	5	15	10	11	1	2	0	0	0	2	0	3	1	2	0	3	1	5	6	3	1	2	5			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr16:27353570C>T	ENST00000395762.2	+	4	458	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	IL4R_ENST00000543915.2_Silent_p.L67L|IL4R_ENST00000449195.1_Silent_p.L67L|IL4R_ENST00000380922.3_Silent_p.L52L|IL4R_ENST00000170630.2_Silent_p.L67L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	67					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCTGGTTTTTCTGCTCTCCGA	0.577																																					p.L67L													.	.			0			c.C199T												132	116	122					16																	27353570		2197	4300	6497	SO:0001819	synonymous_variant	3566	exon4			GTTTTTCTGCTCT	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.199C>T	16.37:g.27353570C>T			113	0	0		151	0.05	8	NM_000418	22	0	0	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	CCDS10629.1																																																																																					0.577	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214104.4				T	27353570	C	T	27353570	2	4	121	1	0	0	0	0	0	0	0	1	7713	912	32	3		3	IL4R	16	27353570	Silent	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10		27353570	63001183	59	9068											
RANBP10	57610	broad.mit.edu;bcgsc.ca	37	chr16	67762301	67762301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtggctctcacccatgctgGactcatccgtctgcaggtcc	5	10	10	16	2	3	0	2	0	2	0	6	1	5	1	3	3	2	3	3	3	0	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr16:67762301G>T	ENST00000317506.3	-	11	1581	c.1466C>A	c.(1465-1467)tCc>tAc	p.S489Y	RANBP10_ENST00000536251.1_Missense_Mutation_p.S260Y|RANBP10_ENST00000602677.1_Missense_Mutation_p.S519Y|RANBP10_ENST00000448631.2_Missense_Mutation_p.S463Y|RANBP10_ENST00000411657.2_Missense_Mutation_p.S402Y	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	489					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)		ACCCATGCTGGACTCATCCGT	0.592																																					p.S489Y													.	RANBP10	56		0			c.C1466A												162	114	130					16																	67762301		2198	4300	6498	SO:0001583	missense	57610	exon11			ATGCTGGACTCAT	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.1466C>A	16.37:g.67762301G>T	ENSP00000316589:p.Ser489Tyr		49	0.0204081633	1		65	0.32	21	NM_020850	32	0.13	4	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643878	0.67244	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.87	5.87	0.94306	.	0.232996	0.45361	D	0.000380	T	0.71533	0.3351	L	0.55481	1.735	0.80722	D	1	P;D;P	0.56287	0.938;0.975;0.645	P;P;P	0.55055	0.69;0.767;0.611	T	0.70673	-0.4807	9	0.52906	T	0.07	-13.0563	18.3552	0.90355	0.0:0.0:1.0:0.0	.	402;463;489	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	Y	489;463;260;402	.	ENSP00000316589:S489Y	S	-	2	0	RANBP10	66319802	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.997000	0.49457	2.941000	0.99782	0.655000	0.94253	TCC			0.592	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467896.1		NM_020850		T	67762301	G	T	67762301	3	4	121	1	0	0	0	0	1	0	0	0	13049	1174	41	3	412	3	RANBP10	16	67762301	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	40408731	67762301	22592452	60	9069											
CRK	1398	mdanderson.org	37	chr17	1359235	1359235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgctgttgatgatgtaGtgggagacgcgcgagttctc	6	11	15	9	4	1	3	0	2	1	1	2	5	1	3	1	1	1	5	1	1	1	3			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr17:1359235G>T	ENST00000300574.2	-	1	317	c.177C>A	c.(175-177)caC>caA	p.H59Q	CRK_ENST00000398970.5_Missense_Mutation_p.H59Q|CRK_ENST00000574295.1_Missense_Mutation_p.H59Q|CRK_ENST00000572145.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	59	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TGATGATGTAGTGGGAGACGC	0.731																																					p.H59Q													.	.			0			c.C177A												24	28	27					17																	1359235		2200	4296	6496	SO:0001583	missense	1398	exon1			GATGTAGTGGGAG	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"SH2 domain containing"	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.177C>A	17.37:g.1359235G>T	ENSP00000300574:p.His59Gln		51	0	0		47	0.06	3	NM_005206	30	0	0	A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	ENST00000300574.2	37	CCDS11002.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528177	0.85706	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	T;T	0.38401	1.14;1.14	4.72	4.72	0.59763	Src homology-3 domain (1);SH2 motif (5);	0.097704	0.64402	D	0.000001	T	0.67562	0.2906	M	0.92219	3.285	0.80722	D	1	B;P	0.51147	0.054;0.942	B;D	0.65874	0.182;0.939	T	0.76260	-0.3024	10	0.66056	D	0.02	-15.8667	15.5538	0.76173	0.0:0.0:1.0:0.0	.	59;59	P46108-2;P46108	.;CRK_HUMAN	Q	59	ENSP00000300574:H59Q;ENSP00000381942:H59Q	ENSP00000300574:H59Q	H	-	3	2	CRK	1305985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.648000	0.61425	2.334000	0.79466	0.655000	0.94253	CAC			0.731	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206679.1		NM_016823		T	1359235	G	T	1359235	3	4	121	1	0	0	0	0	1	0	0	0	3886	1020	36	3	749	3	CRK	17	1359235	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		1359235	79835975	61	9070											
SLFN12	55106	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	33749877	33749877	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttcagccttgatcacTccccctccagaattgagcag	10	11	6	14	0	3	3	3	2	0	1	5	3	5	3	4	0	2	1	4	0	2	3			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr17:33749877T>C	ENST00000394562.1	-	4	694	c.171A>G	c.(169-171)ggA>ggG	p.G57G	SLFN12_ENST00000452764.3_Silent_p.G57G|SLFN12_ENST00000304905.5_Silent_p.G57G|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	57							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTGATCACTCCCCCTCCAG	0.358																																					p.G57G													.	SLFN12	56		0			c.A171G												125	115	118					17																	33749877		2203	4300	6503	SO:0001819	synonymous_variant	55106	exon2			GATCACTCCCCCT	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.171A>G	17.37:g.33749877T>C			118	0	0		159	0.04	6	NM_018042	2	0	0	A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	CCDS11295.1																																																																																					0.358	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256491.1		NM_018042		C	33749877	T	C	33749877	2	2	121	1	0	0	0	0	0	0	0	1	14757	1538	54	4		4	SLFN12	17	33749877	Silent	SNP	T	TCGA-XE-AAOC-01A-11D-A435-10	32390642	33749877	47445333	62	9071											
NUP85	79902	mdanderson.org	37	chr17	73208158	73208158	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgcaccaggttgcaaGtaaggactgtgtgcgcgtgc	10	8	15	8	2	0	0	0	0	0	0	0	2	0	2	1	3	4	4	1	3	3	2			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr17:73208158G>T	ENST00000245544.4	+	4	432		c.e4+1		NUP85_ENST00000579298.1_Splice_Site|NUP85_ENST00000541827.1_Splice_Site|NUP85_ENST00000447371.2_Splice_Site|NUP85_ENST00000449421.2_Splice_Site|NUP85_ENST00000579324.1_Splice_Site	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CAGGTTGCAAGTAAGGACtgt	0.413																																					.													.	.			0			c.361+1G>T												129	99	109					17																	73208158		2203	4300	6503	SO:0001630	splice_region_variant	79902	exon4			TTGCAAGTAAGGA	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.361+1G>T	17.37:g.73208158G>T			31	0	0		51	0.06	3	NM_024844	0		0	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Splice_Site	SNP	ENST00000245544.4	37	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587688	0.86851	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1591	0.93524	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP85	70719753	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.664000	0.83830	2.619000	0.88677	0.591000	0.81541	.			0.413	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446619.1		NM_024844	Intron	T	73208158	G	T	73208158	5	4	121	1	0	0	0	0	0	0	1	0	10787	1043	36	3	376	3	NUP85	17	73208158	Splice_Site	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	39458281	73208158	7987052	63	9072											
ESCO1	114799	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr18	19153599	19153600	+	Frame_Shift_Del	DEL	CA	CA	-																															gagtccaacttattgtgctgCacagagttaaattttgagag																										TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	CA	CA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr18:19153599_19153600delCA	ENST00000269214.5	-	4	2142_2143	c.1205_1206delTG	c.(1204-1206)gtgfs	p.V402fs		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	402					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TATTGTGCTGCACAGAGTTAAA	0.366																																					p.402_403del													.	ESCO1	89		0			c.1206_1207del																																									SO:0001589	frameshift_variant	114799	exon4			GTGCTGCACAGAG	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1205_1206delTG	18.37:g.19153601_19153602delCA	ENSP00000269214:p.Val402fs		139	0	0		131	0.13	17	NM_052911	13	0	0	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Frame_Shift_Del	DEL	ENST00000269214.5	37	CCDS32800.1																																																																																					0.366	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443942.1		NM_052911		-	19153600	CA	-	19153599	7	5	121	1	0	1	0	1	0	0	0	0	5255	697	25	0	1352	0	ESCO1	18	19153599	Frame_Shift_Del	DEL	CA	TCGA-XE-AAOC-01A-11D-A435-10		19153599	58923649	64	9073											
DCC	1630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	50278479	50278479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagaaccttctgatgcCgtcacaatgcggggaggaaa	11	8	11	11	2	3	2	2	1	2	1	4	4	3	4	2	3	3	0	2	3	3	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr18:50278479C>T	ENST00000442544.2	+	2	763	c.147C>T	c.(145-147)gcC>gcT	p.A49A	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	49	Ig-like C2-type 1.				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)		CTTCTGATGCCGTCACAATGC	0.483																																					p.A49A													.	.			0			c.C147T												60	60	60					18																	50278479		2203	4300	6503	SO:0001819	synonymous_variant	1630	exon2			TGATGCCGTCACA	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.147C>T	18.37:g.50278479C>T			94	0	0		63	0.19	12	NM_005215	6	0.33	2		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																					0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255996.3		NM_005215		T	50278479	C	T	50278479	2	4	121	1	0	0	0	0	0	0	0	1	4284	639	23	1		1	DCC	18	50278479	Silent	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	31124880	50278479	27798769	65	9074											
CYP4F8	11283	hgsc.bcm.edu	37	chr19	15733939	15733939	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgaatatattactgcGatcatggagctcagtgccct	10	11	9	11	1	2	1	2	1	0	0	2	3	2	2	2	1	4	1	2	1	4	3			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr19:15733939G>T	ENST00000441682.2	+	0	733							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ATATTACTGCGATCATGGAGC	0.537																																					.													.	.			0			.												44	48	46					19																	15733939		2200	4299	6499			11283	.			TACTGCGATCATG	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15733939G>T			83	0	0		85	0.05	4	.	0		0		Silent	SNP	ENST00000441682.2	37																																																																																						0.537	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript				NM_007253		T	15733939	G	T	15733939	1	4	121	0	1	0	0	0	0	0	0	0	4193	1045	37	1		1	CYP4F8	19	15733939	RNA	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		15733939	43395044	66	9075											
SIGLEC1	6614	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	3673381	3673381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgtgatgggggcaccttCaggcacggcagcctccggag	7	6	15	13	2	1	1	1	1	0	0	2	2	2	2	3	5	1	3	3	5	0	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr20:3673381C>T	ENST00000344754.4	-	15	3816	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E1273K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1273	Ig-like C2-type 13.				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						GGGGCACCTTCAGGCACGGCA	0.657																																					p.E1273K													.	SIGLEC1	210		0			c.G3817A												42	42	42					20																	3673381		2203	4300	6503	SO:0001583	missense	6614	exon15			CACCTTCAGGCAC	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.3817G>A	20.37:g.3673381C>T	ENSP00000341141:p.Glu1273Lys		37	0	0		36	0.14	5	NM_023068	7	0	0	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409273	0.62399	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.14766	2.48;2.48	5.74	5.74	0.90152	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37483	N	0.002062	T	0.33673	0.0871	M	0.71920	2.185	0.39617	D	0.96997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.08848	-1.0702	10	0.10902	T	0.67	.	15.4078	0.74893	0.0:1.0:0.0:0.0	.	1273;1273	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	K	1273	ENSP00000341141:E1273K;ENSP00000202578:E1273K	ENSP00000202578:E1273K	E	-	1	0	SIGLEC1	3621381	0.987000	0.35691	0.995000	0.50966	0.022000	0.10575	2.933000	0.48948	2.712000	0.92718	0.561000	0.74099	GAA			0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077761.2		NM_023068		T	3673381	C	T	3673381	3	4	121	1	0	0	0	0	1	0	0	0	14328	835	29	3	1340	3	SIGLEC1	20	3673381	Missense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10		3673381	59352139	67	9076											
KIF16B	55614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	16385486	16385486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacaacatgactgcagacaGgttctcacgggacttcgaga	13	8	10	10	2	1	3	1	1	1	2	3	5	1	4	0	2	3	2	0	2	2	3			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr20:16385486G>A	ENST00000354981.2	-	17	1913	c.1756C>T	c.(1756-1758)Ctg>Ttg	p.L586L	KIF16B_ENST00000355755.3_Silent_p.L586L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.L586L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	586					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACTGCAGACAGGTTCTCACGG	0.507																																					p.L586L													.	.			0			c.C1756T												109	90	97					20																	16385486		2203	4300	6503	SO:0001819	synonymous_variant	55614	exon17			CAGACAGGTTCTC	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1756C>T	20.37:g.16385486G>A			59	0	0		74	0.16	12	NM_001199865	17	0.06	1	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	CCDS13122.1																																																																																					0.507	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078104.2		NM_017683		A	16385486	G	A	16385486	2	1	121	1	0	0	0	0	0	0	0	1	8293	991	35	3		3	KIF16B	20	16385486	Silent	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10	12712105	16385486	46640034	68	9077											
PCK1	5105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	56137903	56137903	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggaagcagtgggcgaTggggagtttgtcaaatgcct	8	10	16	7	1	1	0	1	0	0	0	2	3	2	2	2	4	2	2	2	4	2	1	rs201469307		TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr20:56137903T>C	ENST00000319441.4	+	4	722	c.558T>C	c.(556-558)gaT>gaC	p.D186D	PCK1_ENST00000535860.1_Silent_p.D54D|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	186					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGTGGGCGATGGGGAGTTTG	0.502													T|||	1	0.000199681	0	0	5008	,	,		19406	0		0.001	False		,,,				2504	0				p.D186D													.	.			0			c.T558C												62	60	61					20																	56137903		2203	4300	6503	SO:0001819	synonymous_variant	5105	exon4			GGGCGATGGGGAG		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.558T>C	20.37:g.56137903T>C			149	0	0		133	0.25	33	NM_002591	0		0	A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	CCDS13460.1																																																																																			0		0.502	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079851.2				C	56137903	T	C	56137903	2	2	121	1	0	0	0	0	0	0	0	1	11598	1461	51	4		4	PCK1	20	56137903	Silent	SNP	T	TCGA-XE-AAOC-01A-11D-A435-10	39752417	56137903	6887617	69	9078											
LRRC3	81543	mdanderson.org	37	chr21	45876537	45876537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtcaggatgggcaccGtgcgcccacctcgcccctcg	5	6	13	17	4	2	0	2	0	0	0	4	1	2	1	5	3	1	1	5	3	0	0			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr21:45876537G>A	ENST00000291592.4	+	2	327	c.10G>A	c.(10-12)Gtg>Atg	p.V4M	LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	4						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)		GATGGGCACCGTGCGCCCACC	0.677																																					p.V4M													.	.			0			c.G10A												36	41	39					21																	45876537		2203	4299	6502	SO:0001583	missense	81543	exon2			GGCACCGTGCGCC	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.10G>A	21.37:g.45876537G>A	ENSP00000291592:p.Val4Met		15	0	0		26	0.08	2	NM_030891	8	0	0	Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	G	7.205	0.594244	0.13875	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	T	0.59083	0.29	2.96	-5.92	0.02261	.	3.138150	0.00913	N	0.002489	T	0.31734	0.0806	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.11717	-1.0576	10	0.39692	T	0.17	-0.0371	3.1025	0.06330	0.1717:0.4044:0.3123:0.1115	.	4	Q9BY71	LRRC3_HUMAN	M	4	ENSP00000291592:V4M	ENSP00000291592:V4M	V	+	1	0	LRRC3	44700965	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.505000	0.02273	-1.835000	0.01191	-0.448000	0.05591	GTG			0.677	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098095.3				A	45876537	G	A	45876537	3	1	121	1	0	0	0	0	1	0	0	0	9000	1145	40	1	12	1	LRRC3	21	45876537	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		45876537	2253358	70	9079											
C22orf30	253143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	32111642	32111642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttaaggtgggacagtttGaagaggcaccacaggtttgg	10	11	15	5	0	0	2	0	1	0	1	0	3	0	3	1	5	0	4	1	5	2	4			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr22:32111642G>A	ENST00000327423.6	-	4	2372	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000434485.1_Missense_Mutation_p.S728L|PRR14L_ENST00000397493.2_Missense_Mutation_p.S728L	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	728										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGGACAGTTTGAAGAGGCACC	0.428																																					p.S728L													.	.			0			c.C2183T												138	109	118					22																	32111642		692	1591	2283	SO:0001583	missense	253143	exon4			CAGTTTGAAGAGG	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.2183C>T	22.37:g.32111642G>A	ENSP00000331845:p.Ser728Leu		149	0	0		113	0.42	47	NM_173566	7	0.71	5	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254244	0.59212	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.18657	2.2;2.24;2.2	5.6	4.59	0.56863	.	0.376195	0.19885	N	0.103868	T	0.22936	0.0554	L	0.59436	1.845	0.33446	D	0.58306	B;B;B	0.32203	0.36;0.36;0.36	B;B;B	0.34385	0.181;0.181;0.181	T	0.27706	-1.0066	9	.	.	.	-6.8852	11.5146	0.50513	0.0836:0.0:0.9164:0.0	.	728;728;728	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	L	728	ENSP00000380630:S728L;ENSP00000331845:S728L;ENSP00000388314:S728L	.	S	-	2	0	PRR14L	30441642	0.884000	0.30299	0.996000	0.52242	0.694000	0.40290	2.165000	0.42396	1.373000	0.46208	-0.136000	0.14681	TCA			0.428	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000074993.2		NM_173566		A	32111642	G	A	32111642	3	1	121	1	0	0	0	0	1	0	0	0	2144	1294	45	3	4296	3	C22orf30	22	32111642	Missense_Mutation	SNP	G	TCGA-XE-AAOC-01A-11D-A435-10		32111642	19192924	71	9080											
FAM19A5	25817	mdanderson.org	37	chr22	49042516	49042516	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcgtgtagaaaggggCagatcgccggcaccacgaga	10	5	16	10	4	0	3	0	0	0	3	1	4	0	3	2	3	1	4	2	3	2	1			TCGA-XE-AAOC-01A-11D-A435-10	TCGA-XE-AAOC-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a95086d9-5cf6-47ea-b486-7459507723c9	aaba5832-4495-4245-a564-32b35dff3387	g.chr22:49042516C>T	ENST00000402357.1	+	2	353	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	FAM19A5_ENST00000358295.5_Nonsense_Mutation_p.Q67*|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	74						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TAGAAAGGGGCAGATCGCCGG	0.706																																					p.Q74X													.	.			0			c.C220T												17	22	20					22																	49042516		2023	4162	6185	SO:0001587	stop_gained	25817	exon2			AAGGGGCAGATCG	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.220C>T	22.37:g.49042516C>T	ENSP00000383933:p.Gln74*		24	0	0		22	0.14	3	NM_001082967	47	0	0	A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Nonsense_Mutation	SNP	ENST00000402357.1	37	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	C	38	7.135300	0.98088	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	.	.	.	X	74;74;67	.	ENSP00000336812:Q74X	Q	+	1	0	FAM19A5	47428952	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.991000	0.76232	2.417000	0.82017	0.655000	0.94253	CAG			0.706	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000317504.1		NM_015381		T	49042516	C	T	49042516	4	4	121	1	0	0	0	0	0	1	0	0	5545	711	25	2	321	2	FAM19A5	22	49042516	Nonsense_Mutation	SNP	C	TCGA-XE-AAOC-01A-11D-A435-10	16930874	49042516	2262050	72	9081											
CROCC	9696	mdanderson.org	37	chr1	17294828	17294828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgctcgcttgagggggAgctgcagcgcagccgcctgg	4	5	19	13	5	0	1	0	1	0	0	1	2	0	2	2	4	4	5	2	4	0	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr1:17294828A>G	ENST00000375541.5	+	31	5060	c.4991A>G	c.(4990-4992)gAg>gGg	p.E1664G		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTTGAGGGGGAGCTGCAGCGC	0.692																																					p.E1664G													.	.			0			c.A4991G												8	10	9					1																	17294828		2025	3970	5995	SO:0001583	missense	9696	exon31			AGGGGGAGCTGCA	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4991A>G	1.37:g.17294828A>G	ENSP00000364691:p.Glu1664Gly		84	0	0		69	0.06	4	NM_014675	38	0	0		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069119	0.76301	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.77877	-1.13	3.43	3.43	0.39272	.	.	.	.	.	D	0.84593	0.5506	M	0.72894	2.215	0.51767	D	0.99993	D;D	0.59767	0.979;0.986	D;D	0.65684	0.914;0.937	D	0.85567	0.1231	9	0.72032	D	0.01	.	10.5038	0.44821	1.0:0.0:0.0:0.0	.	967;1664	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	G	1664;1545	ENSP00000364691:E1664G	ENSP00000364691:E1664G	E	+	2	0	CROCC	17167415	1.000000	0.71417	0.977000	0.42913	0.972000	0.66771	7.803000	0.85983	1.525000	0.49052	0.379000	0.24179	GAG			0.692	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006249.2		NM_014675		G	17294828	A	G	17294828	3	3	122	1	0	0	0	0	1	0	0	0	3895	304	11	4	5113	4	CROCC	1	17294828	Missense_Mutation	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10		17294828	231955793	1	9082											
CPSF3	51692	broad.mit.edu	37	chr2	9568893	9568893	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccttgaatatttacaGtggagctgggcaagaagtag	11	11	11	8	0	1	2	0	1	1	1	2	3	1	3	2	2	2	3	2	2	6	5			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr2:9568893G>T	ENST00000238112.3	+	2	256		c.e2-1		CPSF3_ENST00000460593.1_Splice_Site	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa						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)		AATATTTACAGTGGAGCTGGG	0.318																																					.	Colon(194;1259 2048 3845 5218 19985)												.	CPSF3	63		0			c.51-1G>T												54	56	55					2																	9568893		2203	4297	6500	SO:0001630	splice_region_variant	51692	exon2			TTTACAGTGGAGC	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.51-1G>T	2.37:g.9568893G>T			274	0	0		228	0.02	5	NM_016207	0		0	O14769|Q53RS2|Q96F36	Splice_Site	SNP	ENST00000238112.3	37	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010473	0.75046	.	.	ENSG00000119203	ENST00000238112;ENST00000427001	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6533	0.88171	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPSF3	9486344	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.469000	0.97679	2.496000	0.84212	0.491000	0.48974	.			0.318	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206843.1		NM_016207	Intron	T	9568893	G	T	9568893	5	4	122	1	0	0	0	0	0	0	1	0	3828	1043	36	3	56	3	CPSF3	2	9568893	Splice_Site	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		9568893	233630480	2	9083											
ASXL2	55252	mdanderson.org	37	chr2	25994311	25994311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagactagcaatgcttacctGctttagtgccttcttgctgt	7	15	8	11	0	1	1	0	0	1	1	1	1	1	1	2	0	6	4	2	0	4	6			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr2:25994311G>T	ENST00000435504.4	-	6	795	c.502C>A	c.(502-504)Cag>Aag	p.Q168K	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.Q140K			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	168	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCTTACCTGCTTTAGTGCC	0.428																																					p.Q168K													.	.			0			c.C502A												179	174	176					2																	25994311		2015	4180	6195	SO:0001583	missense	55252	exon5			TTACCTGCTTTAG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.502C>A	2.37:g.25994311G>T	ENSP00000391447:p.Gln168Lys		126	0	0		130	0.04	5	NM_018263	8	0	0	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	G	27.5	4.841187	0.91197	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.22539	1.95;1.95	5.66	5.66	0.87406	.	0.062966	0.64402	D	0.000004	T	0.44871	0.1314	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.28396	-1.0045	10	0.87932	D	0	-2.2762	18.309	0.90192	0.0:0.0:1.0:0.0	.	168	Q76L83	ASXL2_HUMAN	K	168;140	ENSP00000391447:Q168K;ENSP00000337250:Q140K	ENSP00000337250:Q140K	Q	-	1	0	ASXL2	25847815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.533000	0.81994	2.672000	0.90937	0.591000	0.81541	CAG			0.428	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000325593.3		NM_018263		T	25994311	G	T	25994311	3	4	122	1	0	0	0	0	1	0	0	0	1067	1328	46	2	3837	2	ASXL2	2	25994311	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	16425418	25994311	217205062	3	9084											
CCT4	10575	mdanderson.org	37	chr2	62110604	62110604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacacttaccattctggctGctggatgtaatacttgcatt	9	16	7	9	0	1	0	0	0	1	0	1	1	1	1	1	2	5	4	1	2	4	7			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr2:62110604G>T	ENST00000394440.3	-	3	556	c.260C>A	c.(259-261)gCa>gAa	p.A87E	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.A31E|CCT4_ENST00000544185.1_5'UTR	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	87					'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)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CATTCTGGCTGCTGGATGTAA	0.353																																					p.A87E													.	.			0			c.C260A												79	69	72					2																	62110604		2203	4300	6503	SO:0001583	missense	10575	exon3			CTGGCTGCTGGAT		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.260C>A	2.37:g.62110604G>T	ENSP00000377958:p.Ala87Glu		34	0	0		29	0.07	2	NM_006430	524	0	0	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225041	0.95173	.	.	ENSG00000115484	ENST00000394440;ENST00000538252	T;T	0.80304	-1.36;-1.36	5.07	5.07	0.68467	.	0.105724	0.64402	D	0.000006	D	0.94374	0.8191	H	0.99789	4.78	0.80722	D	1	D	0.55385	0.971	P	0.59703	0.862	D	0.97219	0.9876	10	0.87932	D	0	-15.5493	18.4301	0.90622	0.0:0.0:1.0:0.0	.	87	P50991	TCPD_HUMAN	E	87;31	ENSP00000377958:A87E;ENSP00000442174:A31E	ENSP00000377958:A87E	A	-	2	0	CCT4	61964108	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.619000	0.98369	2.500000	0.84329	0.655000	0.94253	GCA			0.353	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325548.2				T	62110604	G	T	62110604	3	4	122	1	0	0	0	0	1	0	0	0	2957	1319	46	2	1407	2	CCT4	2	62110604	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	36116293	62110604	181088769	4	9085											
QARS	5859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49139869	49139869	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccttgaacttcttctccaGatcagcctccaacttggggc	8	12	7	14	0	3	2	1	1	2	1	5	2	4	2	4	2	4	0	4	2	3	5			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr3:49139869G>A	ENST00000306125.6	-	6	890	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	QARS_ENST00000414533.1_Silent_p.L174L|QARS_ENST00000420147.2_Silent_p.L203L|QARS_ENST00000470225.1_5'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	185					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTCTTCTCCAGATCAGCCTCC	0.567																																					p.L185L													.	.			0			c.C553T												129	100	110					3																	49139869		2203	4300	6503	SO:0001819	synonymous_variant	5859	exon6			TCTCCAGATCAGC	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.553C>T	3.37:g.49139869G>A			144	0	0		91	0.11	10	NM_005051	350	0.33	115	B4DWJ2	Silent	SNP	ENST00000306125.6	37	CCDS2788.1																																																																																					0.567	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345689.2		NM_005051		A	49139869	G	A	49139869	2	1	122	1	0	0	0	0	0	0	0	1	12894	933	33	3		3	QARS	3	49139869	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		49139869	148882561	5	9086											
IFRD2	7866	mdanderson.org	37	chr3	50329785	50329785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacgagacgccggccggtgCgctgcgctgagacttggcca	7	5	15	14	6	0	2	0	1	0	2	0	4	0	2	3	3	3	2	3	3	1	1	rs587742335	byFrequency	TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr3:50329785C>T	ENST00000429673.2	-	1	112	c.113G>A	c.(112-114)cGc>cAc	p.R38H	IFRD2_ENST00000336089.4_Missense_Mutation_p.R140H|IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000484043.1_5'Flank			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	38						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCGGCCGGTGCGCTGCGCTGA	0.756																																					p.R38H													.	.			0			c.G113A												5	13	10					3																	50329785		643	1524	2167	SO:0001583	missense	7866	exon1			CCGGTGCGCTGCG	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.113G>A	3.37:g.50329785C>T	ENSP00000398971:p.Arg38His		23	0	0		22	0.09	2	NM_006764	13	0	0	Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	8.295	0.818657	0.16607	.	.	ENSG00000214706	ENST00000336089;ENST00000429673	T;T	0.58652	0.32;0.53	5.13	-6.1	0.02138	.	1.200300	0.06337	N	0.707321	T	0.28234	0.0697	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	0.13019	-1.0525	10	0.72032	D	0.01	-0.301	0.0115	0.00001	0.2935:0.1926:0.2176:0.2963	.	38;140	Q12894;Q9UJ88	IFRD2_HUMAN;.	H	140;38	ENSP00000336936:R140H;ENSP00000398971:R38H	ENSP00000336936:R140H	R	-	2	0	IFRD2	50304789	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.435000	0.06931	-1.770000	0.01295	-0.894000	0.02916	CGC			0.756	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_006764		T	50329785	C	T	50329785	3	4	122	1	0	0	0	0	1	0	0	0	7569	768	27	1	1455	1	IFRD2	3	50329785	Missense_Mutation	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10	1189916	50329785	147692645	6	9087											
PCGF3	10336	mdanderson.org	37	chr4	727493	727493	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccaggaagatcaagctGtgggacatcaacgcccacat	13	7	10	11	1	2	2	2	1	0	1	2	4	2	4	2	2	2	1	2	2	3	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr4:727493G>T	ENST00000362003.5	+	4	419	c.24G>T	c.(22-24)ctG>ctT	p.L8L	PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000400151.2_Silent_p.L8L|PCGF3_ENST00000505655.2_Silent_p.L8L|PCGF3_ENST00000470161.2_Silent_p.L8L	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AGATCAAGCTGTGGGACATCA	0.542																																					p.L8L													.	.			0			c.G24T												83	93	89					4																	727493		2159	4240	6399	SO:0001819	synonymous_variant	10336	exon4			CAAGCTGTGGGAC	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	10066	protein-coding gene	gene with protein product			"ring finger protein 3"	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.24G>T	4.37:g.727493G>T			40	0	0		39	0.08	3	NM_006315	62	0	0	D3DVN1|O15262	Silent	SNP	ENST00000362003.5	37	CCDS3339.2																																																																																					0.542	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239197.2		NM_006315		T	727493	G	T	727493	2	4	122	1	0	0	0	0	0	0	0	1	11593	1364	48	3		3	PCGF3	4	727493	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		727493	190426783	7	9088											
FGFRL1	53834	mdanderson.org	37	chr4	1016154	1016154	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgcttccgcgtgctgccGcaggggctgaaggtgaagca	7	6	16	12	4	0	2	0	2	0	0	1	2	1	2	3	3	4	5	3	3	2	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr4:1016154G>A	ENST00000398484.2	+	4	823	c.243G>A	c.(241-243)ccG>ccA	p.P81P	FGFRL1_ENST00000510644.1_Silent_p.P81P|FGFRL1_ENST00000504138.1_Silent_p.P81P|FGFRL1_ENST00000264748.6_Silent_p.P81P			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	81	Ig-like C2-type 1.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCGTGCTGCCGCAGGGGCTGA	0.687																																					p.P81P													.	.			0			c.G243A												36	33	34					4																	1016154		2194	4294	6488	SO:0001819	synonymous_variant	53834	exon3			GCTGCCGCAGGGG		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.243G>A	4.37:g.1016154G>A			39	0	0		34	0.09	3	NM_001004356	20	0	0	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	CCDS3344.1																																																																																					0.687	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239195.2		NM_021923		A	1016154	G	A	1016154	2	1	122	1	0	0	0	0	0	0	0	1	5882	1074	38	1		1	FGFRL1	4	1016154	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	288661	1016154	190138122	8	9089											
CLCN3	1182	broad.mit.edu	37	chr4	170618538	170618538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggagggctttggggagccTttttcattagggcaaatatt	8	15	13	5	0	1	0	1	0	0	0	1	2	1	2	1	5	1	2	1	5	3	7			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr4:170618538T>C	ENST00000513761.1	+	9	1775	c.1216T>C	c.(1216-1218)Ttt>Ctt	p.F406L	CLCN3_ENST00000504131.2_Missense_Mutation_p.F389L|CLCN3_ENST00000360642.3_Missense_Mutation_p.F379L|CLCN3_ENST00000347613.4_Missense_Mutation_p.F406L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	406					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)		TTGGGGAGCCTTTTTCATTAG	0.438																																					p.F406L													.	CLCN3	85		0			c.T1216C												145	144	144					4																	170618538		2203	4300	6503	SO:0001583	missense	0	exon9			GGAGCCTTTTTCA	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.1216T>C	4.37:g.170618538T>C	ENSP00000424603:p.Phe406Leu		203	0.0098522167	2		170	0.02	4	NM_001829	9	0	0	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	8.503	0.864743	0.17250	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.84	5.84	0.93424	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	N	0.02315	-0.6	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0	B;B;B;B;B	0.15484	0.009;0.009;0.009;0.013;0.005	T	0.76302	-0.3009	10	0.06494	T	0.89	-11.1807	16.2123	0.82170	0.0:0.0:0.0:1.0	.	379;389;379;406;406	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	L	406;406;379;389;379	ENSP00000424603:F406L;ENSP00000261514:F406L;ENSP00000353857:F379L;ENSP00000424540:F389L;ENSP00000425323:F379L	ENSP00000261514:F406L	F	+	1	0	CLCN3	170855113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.182000	0.58310	2.231000	0.72958	0.455000	0.32223	TTT			0.438	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000363210.2				C	170618538	T	C	170618538	3	2	122	1	0	0	0	0	1	0	0	0	3466	1609	56	4	1246	4	CLCN3	4	170618538	Missense_Mutation	SNP	T	TCGA-XE-AAOD-01A-11D-A435-10	169602384	170618538	20535738	9	9090											
CTNND2	1501	mdanderson.org	37	chr5	11385032	11385032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggtgctgtaggacttggCcaggcggctgggcgactgct	4	9	18	10	2	0	0	0	0	0	0	0	2	0	1	1	6	2	5	1	6	1	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr5:11385032C>T	ENST00000304623.8	-	7	1111	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	CTNND2_ENST00000495388.2_5'Flank|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.A308T|CTNND2_ENST00000511377.1_Missense_Mutation_p.A217T|CTNND2_ENST00000458100.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	308					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						TAGGACTTGGCCAGGCGGCTG	0.736																																					p.A308T													.	.			0			c.G922A												49	56	54					5																	11385032		2195	4296	6491	SO:0001583	missense	1501	exon7			ACTTGGCCAGGCG	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.922G>A	5.37:g.11385032C>T	ENSP00000307134:p.Ala308Thr		15	0	0		27	0.11	3	NM_001332	0		0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354936	0.82243	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377	T;T;T	0.79454	-1.21;-1.27;-1.17	3.61	3.61	0.41365	.	0.191852	0.31859	U	0.006951	T	0.79862	0.4519	L	0.40543	1.245	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.75007	-0.3469	10	0.06099	T	0.92	-8.0892	14.8296	0.70137	0.0:1.0:0.0:0.0	.	308	Q9UQB3	CTND2_HUMAN	T	308;308;217	ENSP00000307134:A308T;ENSP00000352661:A308T;ENSP00000426510:A217T	ENSP00000307134:A308T	A	-	1	0	CTNND2	11438032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.854000	0.55949	1.526000	0.49068	0.462000	0.41574	GCC			0.736	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206999.1		NM_001332		T	11385032	C	T	11385032	3	4	122	1	0	0	0	0	1	0	0	0	4022	739	26	2	2819	2	CTNND2	5	11385032	Missense_Mutation	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10		11385032	169530228	10	9091											
FEM1C	56929	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr5	114860823	114860823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagagtctgcatagacagCgcctctatatctaatatagt	12	12	7	10	1	3	2	0	0	3	2	4	2	4	2	2	0	2	1	2	0	6	6			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr5:114860823C>T	ENST00000274457.3	-	3	1597	c.1036G>A	c.(1036-1038)Gct>Act	p.A346T		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	346					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GCATAGACAGCGCCTCTATAT	0.413																																					p.A346T													FEM1C,NS,carcinoma,0,1	FEM1C	0	1	0			c.G1036A												101	102	102					5																	114860823		2202	4300	6502	SO:0001583	missense	56929	exon3			AGACAGCGCCTCT		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1036G>A	5.37:g.114860823C>T	ENSP00000274457:p.Ala346Thr		72	0	0		54	0.07	4	NM_020177	8	0	0	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434245	0.83776	.	.	ENSG00000145780	ENST00000274457	T	0.74947	-0.89	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91539	0.5248	10	0.87932	D	0	-18.9153	19.502	0.95098	0.0:1.0:0.0:0.0	.	346	Q96JP0	FEM1C_HUMAN	T	346	ENSP00000274457:A346T	ENSP00000274457:A346T	A	-	1	0	FEM1C	114888722	1.000000	0.71417	0.976000	0.42696	0.985000	0.73830	7.772000	0.85439	2.602000	0.87976	0.655000	0.94253	GCT			0.413	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250857.3		NM_020177		T	114860823	C	T	114860823	3	4	122	1	0	0	0	0	1	0	0	0	5824	768	27	1	821	1	FEM1C	5	114860823	Missense_Mutation	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10	103475791	114860823	66054437	11	9092											
EBF1	1879	mdanderson.org	37	chr5	158135162	158135162	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgtggaggaggccatGgtggggctggatggcactac	7	8	19	7	0	0	0	0	0	0	0	0	3	0	3	1	9	1	3	1	9	1	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr5:158135162G>T	ENST00000313708.6	-	15	1851	c.1569C>A	c.(1567-1569)acC>acA	p.T523T	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.T492T|EBF1_ENST00000517373.1_Silent_p.T455T	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	523	Pro/Ser/Thr-rich.				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)			AGGAGGCCATGGTGGGGCTGG	0.557			T	HMGA2	lipoma																																p.T523T				Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.			0			c.C1569A												59	57	58					5																	158135162		2200	4297	6497	SO:0001819	synonymous_variant	1879	exon15			GGCCATGGTGGGG	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.1569C>A	5.37:g.158135162G>T			66	0	0		48	0.06	3	NM_024007	3	0	0	Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																					0.557	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000252649.1		NM_024007		T	158135162	G	T	158135162	2	4	122	1	0	0	0	0	0	0	0	1	4885	1335	47	3		3	EBF1	5	158135162	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	43274339	158135162	22780098	12	9093											
TXNDC5	81567	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	7883446	7883446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtctctgcctccactgtgCtcactgactttcttccctcc	4	14	6	17	0	3	1	1	1	2	0	7	1	6	1	4	1	2	1	4	1	0	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr6:7883446C>T	ENST00000379757.4	-	10	1267	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Silent_p.E302E|TXNDC5_ENST00000539054.1_Silent_p.E338E	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	410	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CTCCACTGTGCTCACTGACTT	0.493																																					p.E410E	Ovarian(119;1430 1625 3928 26125 34589)												.	.			0			c.G1230A												164	127	140					6																	7883446		2203	4300	6503	SO:0001819	synonymous_variant	81567	exon10			ACTGTGCTCACTG	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1230G>A	6.37:g.7883446C>T			81	0	0		98	0.05	5	NM_030810	639	0.02	14	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	37	CCDS4505.1																																																																																					0.493	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039792.1		NM_030810		T	7883446	C	T	7883446	2	4	122	1	0	0	0	0	0	0	0	1	16823	796	28	2		2	TXNDC5	6	7883446	Silent	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10		7883446	163231621	13	9094											
ID4	3400	mdanderson.org	37	chr6	19838202	19838202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgatatgaacgactgctatAgccgcctgcggaggctggtg	8	8	15	10	4	0	1	0	1	0	0	0	4	0	2	2	3	4	2	2	3	4	3			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr6:19838202A>G	ENST00000378700.3	+	1	586	c.217A>G	c.(217-219)Agc>Ggc	p.S73G	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	73	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			CGACTGCTATAGCCGCCTGCG	0.672																																					p.S73G	Esophageal Squamous(13;105 518 19978 28644 46870)												.	.			0			c.A217G												33	34	34					6																	19838202		2201	4298	6499	SO:0001583	missense	3400	exon1			TGCTATAGCCGCC	U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"Basic helix-loop-helix proteins"	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.217A>G	6.37:g.19838202A>G	ENSP00000367972:p.Ser73Gly		67	0	0		61	0.05	3	NM_001546	33	0	0	Q13005	Missense_Mutation	SNP	ENST00000378700.3	37	CCDS4544.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.794268	0.50102	.	.	ENSG00000172201	ENST00000378700	D	0.98028	-4.67	2.88	1.68	0.24146	Helix-loop-helix DNA-binding (5);	0.213259	0.47093	D	0.000252	D	0.93135	0.7814	M	0.76170	2.325	0.54753	D	0.999982	B	0.14438	0.01	B	0.15484	0.013	D	0.88693	0.3210	9	.	.	.	-7.7635	7.5885	0.28006	0.8896:0.0:0.1104:0.0	.	73	P47928	ID4_HUMAN	G	73	ENSP00000367972:S73G	.	S	+	1	0	ID4	19946181	1.000000	0.71417	0.787000	0.31911	0.273000	0.26683	2.166000	0.42406	0.333000	0.23563	0.254000	0.18369	AGC			0.672	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039979.1		NM_001546		G	19838202	A	G	19838202	3	3	122	1	0	0	0	0	1	0	0	0	7507	420	15	4	219	4	ID4	6	19838202	Missense_Mutation	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10	11954756	19838202	151276865	14	9095											
MDN1	23195	mdanderson.org	37	chr6	90529232	90529232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcacgtcttacctgcttgGccaagaacctgcccaactca	9	10	6	16	1	3	1	2	0	1	1	3	1	3	1	4	1	5	1	4	1	4	3			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr6:90529232G>T	ENST00000369393.3	-	1	210	c.95C>A	c.(94-96)gCc>gAc	p.A32D	MDN1_ENST00000428876.1_Missense_Mutation_p.A32D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	32					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)		TACCTGCTTGGCCAAGAACCT	0.612																																					p.A32D													.	.			0			c.C95A												179	177	178					6																	90529232		2203	4300	6503	SO:0001583	missense	23195	exon1			TGCTTGGCCAAGA	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.95C>A	6.37:g.90529232G>T	ENSP00000358400:p.Ala32Asp		73	0	0		56	0.05	3	NM_014611	1	0	0	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205235	0.39003	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.17691	4.01;4.01;2.26	4.74	1.86	0.25419	.	0.559520	0.18371	N	0.143271	T	0.03477	0.0100	L	0.36672	1.1	0.30306	N	0.788952	B;B	0.33583	0.418;0.04	B;B	0.32393	0.145;0.015	T	0.43310	-0.9399	10	0.22109	T	0.4	.	5.0018	0.14268	0.1921:0.3295:0.4784:0.0	.	32;32	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	D	32	ENSP00000358400:A32D;ENSP00000413970:A32D;ENSP00000409664:A32D	ENSP00000358400:A32D	A	-	2	0	MDN1	90585953	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.855000	0.39378	0.268000	0.21939	0.561000	0.74099	GCC			0.612	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041514.2				T	90529232	G	T	90529232	3	4	122	1	0	0	0	0	1	0	0	0	9431	1203	42	2	17103	2	MDN1	6	90529232	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	70691030	90529232	80585835	15	9096											
SYNE1	23345	broad.mit.edu;mdanderson.org	37	chr6	152469314	152469314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatcccactccagggggAtggagtccacactagccggg	8	6	14	13	2	0	1	0	1	0	0	3	3	3	3	4	4	1	0	4	4	1	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr6:152469314A>G	ENST00000367255.5	-	137	25443	c.24842T>C	c.(24841-24843)aTc>aCc	p.I8281T	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.I8281T|SYNE1_ENST00000354674.4_Missense_Mutation_p.I436T|SYNE1_ENST00000448038.1_Missense_Mutation_p.I8210T|SYNE1_ENST00000539504.1_Missense_Mutation_p.I436T|SYNE1_ENST00000423061.1_Missense_Mutation_p.I8210T|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2805T|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7893T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8281					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)		CTCCAGGGGGATGGAGTCCAC	0.597										HNSCC(10;0.0054)																											p.I8281T													.	SYNE1	3227		0			c.T24842C												62	60	61					6																	152469314		2203	4300	6503	SO:0001583	missense	23345	exon137			AGGGGGATGGAGT	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.24842T>C	6.37:g.152469314A>G	ENSP00000356224:p.Ile8281Thr		94	0	0		85	0.05	4	NM_182961	23	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	25.6	4.658455	0.88154	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.68025	-0.16;3.91;0.91;-0.3;-0.25;-0.29;0.06;1.88;0.84;3.88	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000033	T	0.81522	0.4840	M	0.88979	2.995	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.999;0.999;0.99	D	0.85873	0.1417	10	0.87932	D	0	.	15.1586	0.72764	1.0:0.0:0.0:0.0	.	8281;8281;8210;8210;483	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	T	8281;436;927;8210;8281;8210;7893;2805;443;438;1203;436	ENSP00000356224:I8281T;ENSP00000441052:I436T;ENSP00000356226:I927T;ENSP00000396024:I8210T;ENSP00000265368:I8281T;ENSP00000390975:I8210T;ENSP00000341887:I7893T;ENSP00000349276:I2805T;ENSP00000356220:I1203T;ENSP00000346701:I436T	ENSP00000265368:I8281T	I	-	2	0	SYNE1	152511007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.937000	0.92936	1.999000	0.58509	0.460000	0.39030	ATC			0.597	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000334755.2		NM_182961		G	152469314	A	G	152469314	3	3	122	1	0	0	0	0	1	0	0	0	15468	333	12	4	1664	4	SYNE1	6	152469314	Missense_Mutation	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10	61940082	152469314	18645753	16	9097											
SLC22A1	6580	mdanderson.org	37	chr6	160564645	160564645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgcaatacaaatgatctGcctggtgaatgctgagctgt	11	12	10	8	0	1	3	0	3	1	0	1	3	1	3	1	1	5	3	1	1	4	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr6:160564645G>T	ENST00000366963.4	+	8	1496	c.1349G>T	c.(1348-1350)tGc>tTc	p.C450F	SLC22A1_ENST00000324965.4_Missense_Mutation_p.C450F|SLC22A1_ENST00000457470.2_Missense_Mutation_p.C450F	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	450		Involved in affinity and selectivity of cations as well as in translocation. {ECO:0000250}.			dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CAAATGATCTGCCTGGTGAAT	0.498																																					p.C450F													.	.			0			c.G1349T												221	169	187					6																	160564645		2203	4300	6503	SO:0001583	missense	6580	exon8			TGATCTGCCTGGT	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1349G>T	6.37:g.160564645G>T	ENSP00000355930:p.Cys450Phe		75	0	0		45	0.07	3	NM_153187	2	0	0	A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509805	0.27036	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.73258	-0.73;0.47;0.47	5.64	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.133795	0.52532	D	0.000080	T	0.65842	0.2730	L	0.42686	1.345	0.80722	D	1	D;B	0.62365	0.991;0.1	D;B	0.65684	0.937;0.098	T	0.64774	-0.6328	10	0.12430	T	0.62	.	14.1241	0.65208	0.0715:0.0:0.9285:0.0	.	450;450	O15245-2;O15245	.;S22A1_HUMAN	F	450	ENSP00000355930:C450F;ENSP00000318103:C450F;ENSP00000409557:C450F	ENSP00000318103:C450F	C	+	2	0	SLC22A1	160484635	1.000000	0.71417	0.976000	0.42696	0.405000	0.30901	5.373000	0.66162	1.386000	0.46466	0.650000	0.86243	TGC			0.498	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042938.2				T	160564645	G	T	160564645	3	4	122	1	0	0	0	0	1	0	0	0	14463	1319	46	2	1379	2	SLC22A1	6	160564645	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	8095331	160564645	10550422	17	9098											
ZNF425	155054	broad.mit.edu;mdanderson.org	37	chr7	148801463	148801463	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtctttttgcactcgccGcagggaaactccttctgcct	7	12	9	13	2	2	0	0	0	2	0	4	1	3	1	3	2	3	2	3	2	2	3			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr7:148801463G>T	ENST00000378061.2	-	4	1632	c.1500C>A	c.(1498-1500)tgC>tgA	p.C500*		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	500					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCACTCGCCGCAGGGAAACT	0.632																																					p.C500X													.	ZNF425	99		0			c.C1500A												52	42	45					7																	148801463		2200	4297	6497	SO:0001587	stop_gained	155054	exon4			CTCGCCGCAGGGA	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1500C>A	7.37:g.148801463G>T	ENSP00000367300:p.Cys500*		47	0	0		34	0.09	3	NM_001001661	1	0	0	B3KPM1|Q08AG3	Nonsense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631327	0.67015	.	.	ENSG00000204947	ENST00000378061	.	.	.	2.74	-3.93	0.04143	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5738	0.39445	0.3804:0.0:0.6196:0.0	.	.	.	.	X	500	.	ENSP00000367300:C500X	C	-	3	2	ZNF425	148432396	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	0.178000	0.16820	-0.923000	0.03785	-1.021000	0.02439	TGC			0.632	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352726.1		XM_088140		T	148801463	G	T	148801463	4	4	122	1	0	0	0	0	0	1	0	0	17922	1079	38	1	762	1	ZNF425	7	148801463	Nonsense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		148801463	10337200	18	9099											
AZIN1	51582	ucsc.edu	37	chr8	103841637	103841637	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctcaggaagaagacagctTtccacaatttgatcaagctc	14	9	8	10	0	2	3	2	1	0	2	4	4	3	4	1	1	3	3	1	1	4	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr8:103841637T>C	ENST00000337198.5	-	11	2261	c.1098A>G	c.(1096-1098)gaA>gaG	p.E366E	AZIN1_ENST00000347770.4_Silent_p.E366E	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	366					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			GAAGACAGCTTTCCACAATTT	0.398																																					p.E366E													.	AZIN1	26		0			c.A1098G												174	183	180					8																	103841637		2203	4300	6503	SO:0001819	synonymous_variant	51582	exon12			ACAGCTTTCCACA	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"ornithine decarboxylase 1-like"	607909	"ornithine decarboxylase antizyme inhibitor"	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.1098A>G	8.37:g.103841637T>C			165	0	0		135	0.01	1	NM_015878	407	0.15	63	A6NCD5|Q6IBQ7|Q96D20	Silent	SNP	ENST00000337198.5	37	CCDS6295.1																																																																																					0.398	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380133.1				C	103841637	T	C	103841637	2	2	122	1	0	0	0	0	0	0	0	1	1242	1838	64	4		4	AZIN1	8	103841637	Silent	SNP	T	TCGA-XE-AAOD-01A-11D-A435-10		103841637	42522385	19	9100											
PSCA	8000	mdanderson.org	37	chr8	143763491	143763491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctgcagccggctgctGccatccttgcgctgctccct	3	10	10	18	2	0	0	0	0	0	0	2	0	2	0	5	1	7	5	5	1	0	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr8:143763491G>A	ENST00000301258.4	+	3	369	c.286G>A	c.(286-288)Gcc>Acc	p.A96T		NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	105						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCGGCTGCTGCCATCCTTGC	0.667																																					p.A96T													.	.			0			c.G286A												31	35	34					8																	143763491		2159	4269	6428	SO:0001583	missense	8000	exon3			GCTGCTGCCATCC	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.286G>A	8.37:g.143763491G>A	ENSP00000301258:p.Ala96Thr		32	0	0		22	0.14	3	NM_005672	0		0	Q6UW92	Missense_Mutation	SNP	ENST00000301258.4	37	CCDS47925.2	.	.	.	.	.	.	.	.	.	.	G	4.308	0.056379	0.08291	.	.	ENSG00000167653	ENST00000301258	.	.	.	3.11	-0.659	0.11424	Ly-6 antigen / uPA receptor -like (1);	1.873280	0.02542	N	0.094687	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.13308	-1.0514	9	0.20519	T	0.43	.	5.885	0.18876	0.6004:0.0:0.3996:0.0	.	105	O43653	PSCA_HUMAN	T	105	.	ENSP00000301258:A105T	A	+	1	0	PSCA	143760493	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.629000	0.24538	-0.126000	0.11682	-0.471000	0.05019	GCC			0.667	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367112.2		NM_005672		A	143763491	G	A	143763491	3	1	122	1	0	0	0	0	1	0	0	0	12665	1319	46	2	296	2	PSCA	8	143763491	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	39921854	143763491	2600531	20	9101											
PLEC	5339	mdanderson.org	37	chr8	145007483	145007483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgttccacctcccccgcccGctgtggcactttgcctgcag	3	9	9	20	3	0	0	0	0	0	0	2	0	2	0	7	1	2	4	7	1	0	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr8:145007483G>A	ENST00000322810.4	-	13	1880	c.1711C>T	c.(1711-1713)Cgg>Tgg	p.R571W	PLEC_ENST00000398774.2_Missense_Mutation_p.R402W|PLEC_ENST00000354958.2_Missense_Mutation_p.R412W|PLEC_ENST00000357649.2_Missense_Mutation_p.R438W|PLEC_ENST00000354589.3_Missense_Mutation_p.R434W|PLEC_ENST00000527096.1_Missense_Mutation_p.R457W|PLEC_ENST00000345136.3_Missense_Mutation_p.R434W|PLEC_ENST00000356346.3_Missense_Mutation_p.R420W|PLEC_ENST00000436759.2_Missense_Mutation_p.R461W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	571	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						TCCCCCGCCCGCTGTGGCACT	0.652																																					p.R571W													.	.			0			c.C1711T												60	69	66					8																	145007483		2104	4214	6318	SO:0001583	missense	5339	exon13			CCGCCCGCTGTGG	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.1711C>T	8.37:g.145007483G>A	ENSP00000323856:p.Arg571Trp		42	0	0		35	0.09	3	NM_201380	27	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	8.360	0.832963	0.16820	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.33	4.44	0.53790	.	0.096626	0.43747	U	0.000540	D	0.89413	0.6708	L	0.29908	0.895	0.41954	D	0.990677	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998;0.998;0.999;0.999	P;P;P;B;P;P;P;P	0.50490	0.642;0.642;0.642;0.439;0.642;0.642;0.642;0.642	D	0.89120	0.3502	10	0.51188	T	0.08	.	11.6398	0.51227	0.0:0.0:0.5576:0.4424	.	461;420;412;571;402;434;438;434	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	W	434;438;434;402;571;412;420;461;457;478	ENSP00000344848:R434W;ENSP00000350277:R438W;ENSP00000346602:R434W;ENSP00000381756:R402W;ENSP00000323856:R571W;ENSP00000347044:R412W;ENSP00000348702:R420W;ENSP00000388180:R461W;ENSP00000434583:R457W;ENSP00000437303:R478W	ENSP00000323856:R571W	R	-	1	2	PLEC	145079471	0.250000	0.23951	0.999000	0.59377	0.038000	0.13279	0.640000	0.24705	1.226000	0.43582	0.643000	0.83706	CGG			0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		A	145007483	G	A	145007483	3	1	122	1	0	0	0	0	1	0	0	0	12069	1086	38	1	12423	1	PLEC	8	145007483	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	1243992	145007483	1356539	21	9102											
NOTCH1	4851	mdanderson.org	37	chr9	139407986	139407986	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtcacagtcgcacttGtacctgcaagggggaccaca	10	6	12	13	1	1	0	1	0	0	0	2	1	1	1	3	3	2	3	3	3	2	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr9:139407986G>T	ENST00000277541.6	-	14	2286	c.2211C>A	c.(2209-2211)taC>taA	p.Y737*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	737	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCGCACTTGTACCTGCAAG	0.622			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																											p.Y737X				Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	.	.			0			c.C2211A												82	88	86					9																	139407986		2157	4249	6406	SO:0001587	stop_gained	4851	exon14			GCACTTGTACCTG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2211C>A	9.37:g.139407986G>T	ENSP00000277541:p.Tyr737*		51	0	0		38	0.08	3	NM_017617	15	0	0	Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	37	6.359150	0.97502	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3474	0.83146	0.0:0.0:1.0:0.0	.	.	.	.	X	737	.	ENSP00000277541:Y737X	Y	-	3	2	NOTCH1	138527807	1.000000	0.71417	0.940000	0.37924	0.340000	0.28889	3.003000	0.49505	2.095000	0.63458	0.455000	0.32223	TAC			0.622	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055087.1		NM_017617		T	139407986	G	T	139407986	4	4	122	1	0	0	0	0	0	1	0	0	10564	1372	48	3	5540	3	NOTCH1	9	139407986	Nonsense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		139407986	1805445	22	9103											
ABCA2	20	mdanderson.org	37	chr9	139907513	139907513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcctcatccggggacGctggcgagtcagatggggcg	6	6	18	11	4	2	1	2	0	0	1	4	3	4	2	2	6	0	2	2	6	0	0	rs527601972		TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr9:139907513G>A	ENST00000371605.3	-	29	4952	c.4805C>T	c.(4804-4806)gCg>gTg	p.A1602V	ABCA2_ENST00000265662.5_Missense_Mutation_p.A1603V|ABCA2_ENST00000341511.6_Missense_Mutation_p.A1603V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1602					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)		ATCCGGGGACGCTGGCGAGTC	0.677													G|||	1	0.000199681	0	0	5008	,	,		10543	0		0.001	False		,,,				2504	0				p.A1633V													.	.			0			c.C4898T												8	12	10					9																	139907513		1919	4075	5994	SO:0001583	missense	20	exon30			GGGGACGCTGGCG	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.4805C>T	9.37:g.139907513G>A	ENSP00000360666:p.Ala1602Val		23	0	0		20	0.1	2	NM_212533	8	0	0	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	G	0.184	-1.059249	0.01950	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000477420	D;D;D	0.86769	-2.17;-2.17;-2.17	4.68	1.07	0.20283	.	1.273390	0.07279	U	0.870374	T	0.63343	0.2503	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53187	-0.8474	10	0.13470	T	0.59	.	7.4655	0.27320	0.6219:0.0:0.3781:0.0	.	1602;1633	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	V	1603;1602;1633;1603;29	ENSP00000265662:A1603V;ENSP00000360666:A1602V;ENSP00000344155:A1603V	ENSP00000265662:A1603V	A	-	2	0	ABCA2	139027334	0.034000	0.19679	0.002000	0.10522	0.004000	0.04260	0.958000	0.29227	0.187000	0.20147	-0.339000	0.08088	GCG			0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding				NM_001606		A	139907513	G	A	139907513	3	1	122	1	0	0	0	0	1	0	0	0	32	1087	38	1	2582	1	ABCA2	9	139907513	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	499527	139907513	1305918	23	9104											
PFKP	5214	bcgsc.ca	37	chr10	3161041	3161041	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcacagcatcaacgcgctgCtgatcatcggtggattcgag	9	8	12	12	5	2	1	2	1	0	0	4	3	2	2	0	2	3	4	0	2	1	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr10:3161041C>T	ENST00000381125.4	+	15	1586	c.1510C>T	c.(1510-1512)Ctg>Ttg	p.L504L	PFKP_ENST00000381075.2_Silent_p.L496L	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	504	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)		CAACGCGCTGCTGATCATCGG	0.542																																					p.L504L													.	PFKP	182		0			c.C1510T												181	137	152					10																	3161041		2203	4300	6503	SO:0001819	synonymous_variant	5214	exon15			GCGCTGCTGATCA	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.1510C>T	10.37:g.3161041C>T			84	0	0		73	0.07	5	NM_002627	194	0	0	B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	C	0.504	-0.869791	0.02570	.	.	ENSG00000067057	ENST00000413079	.	.	.	5.32	-4.45	0.03546	.	.	.	.	.	T	0.51770	0.1694	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51764	-0.8664	4	.	.	.	.	9.3969	0.38408	0.098:0.2993:0.0:0.6027	.	.	.	.	V	67	.	.	A	+	2	0	PFKP	3151041	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.280000	0.08468	-0.754000	0.04715	0.561000	0.74099	GCT			0.542	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046454.1		NM_002627		T	3161041	C	T	3161041	2	4	122	1	0	0	0	0	0	0	0	1	11783	796	28	2		2	PFKP	10	3161041	Silent	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10		3161041	132373706	24	9105											
MUC6	4588	bcgsc.ca	37	chr11	1016822	1016822	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgatggggttggataggtAgtggtggtctggaaggatgt	7	13	20	1	0	1	1	0	1	1	0	1	4	1	4	0	8	0	2	0	8	3	3			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr11:1016822A>C	ENST00000421673.2	-	31	6029	c.5979T>G	c.(5977-5979)acT>acG	p.T1993T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1993	Thr-rich.				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)		TTGGATAGGTAGTGGTGGTCT	0.547																																					p.T1993T													.	MUC6	408		0			c.T5979G												1476	1469	1471					11																	1016822		2203	4298	6501	SO:0001819	synonymous_variant	4588	exon31			ATAGGTAGTGGTG	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.5979T>G	11.37:g.1016822A>C			523	0.0248565966	13		375	0.04	16	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																					0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		C	1016822	A	C	1016822	2	2	122	1	0	0	0	0	0	0	0	1	9996	407	15	4		4	MUC6	11	1016822	Silent	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10		1016822	133989694	25	9106											
OR56B1	387748	mdanderson.org	37	chr11	5758268	5758268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgtgcttgcagcacaGcgtgattattgctccaagaa	9	11	11	10	1	0	2	0	1	0	1	1	2	1	2	2	0	6	4	2	0	3	3			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr11:5758268G>T	ENST00000317121.3	+	1	588	c.522G>T	c.(520-522)caG>caT	p.Q174H	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	174						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(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTGCAGCACAGCGTGATTATT	0.468																																					p.Q174H													.	.			0			c.G522T												130	113	119					11																	5758268		2201	4297	6498	SO:0001583	missense	387748	exon1			AGCACAGCGTGAT	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.522G>T	11.37:g.5758268G>T	ENSP00000322939:p.Gln174His		80	0	0		49	0.06	3	NM_001005180	0		0	B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.100998	0.20552	.	.	ENSG00000181023	ENST00000317121	T	0.00107	8.72	5.91	0.558	0.17266	GPCR, rhodopsin-like superfamily (1);	0.355217	0.20371	U	0.093656	T	0.00210	0.0006	L	0.35723	1.085	0.09310	N	1	D	0.57257	0.979	D	0.64687	0.928	T	0.51949	-0.8640	10	0.62326	D	0.03	-6.4166	2.8481	0.05549	0.1417:0.1224:0.4838:0.252	.	174	Q8NGI3	O56B1_HUMAN	H	174	ENSP00000322939:Q174H	ENSP00000322939:Q174H	Q	+	3	2	OR56B1	5714844	0.000000	0.05858	0.116000	0.21606	0.016000	0.09150	0.514000	0.22786	0.117000	0.18138	-0.150000	0.13652	CAG			0.468	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143354.1		NM_001005180		T	5758268	G	T	5758268	3	4	122	1	0	0	0	0	1	0	0	0	11154	962	34	2	524	2	OR56B1	11	5758268	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	4741446	5758268	129248248	26	9107											
PAX6	5080	broad.mit.edu	37	chr11	31816308	31816308	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggagttggtattctcTccccctccttcctgttgctg	3	16	9	13	0	1	1	0	1	1	0	5	2	4	2	4	2	1	4	4	2	1	5			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr11:31816308T>C	ENST00000379132.3	-	7	832	c.552A>G	c.(550-552)ggA>ggG	p.G184G	PAX6_ENST00000379111.2_Silent_p.G184G|PAX6_ENST00000379115.4_Silent_p.G198G|PAX6_ENST00000419022.1_Silent_p.G198G|PAX6_ENST00000241001.8_Silent_p.G184G|PAX6_ENST00000379107.2_Silent_p.G198G|PAX6_ENST00000379129.2_Silent_p.G198G|PAX6_ENST00000379123.5_Silent_p.G184G			P26367	PAX6_HUMAN	paired box 6	184	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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)|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)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TGGTATTCTCTCCCCCTCCTT	0.463									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																												p.G198G													.	PAX6	75		0			c.A594G												105	96	99					11																	31816308		2202	4299	6501	SO:0001819	synonymous_variant	5080	exon9	Familial Cancer Database	WAGR syndrome	ATTCTCTCCCCCT	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.552A>G	11.37:g.31816308T>C			133	0.007518797	1		102	0.05	5	NM_001604	0		0	Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	CCDS31451.1																																																																																					0.463	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000099293.4		NM_001604		C	31816308	T	C	31816308	2	2	122	1	0	0	0	0	0	0	0	1	11500	1538	54	4		4	PAX6	11	31816308	Silent	SNP	T	TCGA-XE-AAOD-01A-11D-A435-10	26058040	31816308	103190208	27	9108											
APLNR	187	mdanderson.org	37	chr11	57004401	57004401	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagggatgagggcccccgaGgatttccagtctgtgtactc	7	9	14	11	1	1	1	0	1	1	0	3	4	2	3	3	3	1	2	3	3	1	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr11:57004401G>T	ENST00000606794.1	-	1	274	c.78C>A	c.(76-78)tcC>tcA	p.S26S		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	26					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGGCCCCCGAGGATTTCCAGT	0.577																																					p.S26S													.	.			0			c.C78A												76	75	75					11																	57004401		2201	4296	6497	SO:0001819	synonymous_variant	187	exon1			CCCCGAGGATTTC	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.78C>A	11.37:g.57004401G>T			81	0	0		48	0.06	3	NM_005161	22	0	0		Silent	SNP	ENST00000606794.1	37	CCDS7950.1																																																																																					0.577	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000470575.1		NM_005161		T	57004401	G	T	57004401	2	4	122	1	0	0	0	0	0	0	0	1	777	987	35	3		3	APLNR	11	57004401	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	25188093	57004401	78002115	28	9109											
SF1	7536	bcgsc.ca	37	chr11	64533334	64533334	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagctggaggcatcccgaAgggcggcatgcccgccaccc	7	3	16	15	3	0	0	0	0	0	0	1	3	1	2	4	5	2	3	4	5	1	0			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr11:64533334A>T	ENST00000377390.3	-	13	2213	c.1876T>A	c.(1876-1878)Ttc>Atc	p.F626I	SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000227503.9_Intron|SF1_ENST00000334944.5_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.F600I	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	626	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGCATCCCGAAGGGCGGCATG	0.537																																					p.F626I													.	SF1	124		0			c.T1876A												7	7	7					11																	64533334		2132	4192	6324	SO:0001583	missense	7536	exon13			TCCCGAAGGGCGG	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1876T>A	11.37:g.64533334A>T	ENSP00000366607:p.Phe626Ile		74	0	0		34	0.12	4	NM_004630	201	0	0	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.661798	0.29515	.	.	ENSG00000168066	ENST00000377390;ENST00000433274	T;T	0.44881	0.91;0.91	4.73	4.73	0.59995	.	.	.	.	.	T	0.26666	0.0652	N	0.19112	0.55	0.80722	D	1	B	0.28026	0.198	B	0.18871	0.023	T	0.06991	-1.0796	9	0.31617	T	0.26	.	12.1957	0.54296	1.0:0.0:0.0:0.0	.	626	Q15637	SF01_HUMAN	I	626;600	ENSP00000366607:F626I;ENSP00000396793:F600I	ENSP00000366607:F626I	F	-	1	0	SF1	64289910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.287000	0.78681	1.781000	0.52344	0.454000	0.30748	TTC			0.537	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000143242.1		NM_004630		T	64533334	A	T	64533334	3	4	122	1	0	0	0	0	1	0	0	0	14168	72	3	5	181	5	SF1	11	64533334	Missense_Mutation	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10	7528933	64533334	70473182	29	9110											
INTS4	92105	broad.mit.edu	37	chr11	77635932	77635932	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctcgaatatctctggAtgaatccttttaaaaaaaaa	16	12	5	8	1	2	1	0	1	2	0	5	3	3	2	2	1	1	0	2	1	8	3	rs148749715		TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr11:77635932A>C	ENST00000534064.1	-	12	1412	c.1378T>G	c.(1378-1380)Tcc>Gcc	p.S460A	INTS4_ENST00000529807.1_Missense_Mutation_p.S460A|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	460					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ATATCTCTGGATGAATCCTTT	0.398																																					p.S460A													.	INTS4	89		0			c.T1378G							A	ALA/SER	2,4376		0,2,2187	21	22	22		1378	4.5	1	11	dbSNP_134	22	0,8568		0,0,4284	no	missense	INTS4	NM_033547.3	99	0,2,6471	CC,CA,AA		0.0,0.0457,0.0154	benign	460/964	77635932	2,12944	2189	4284	6473	SO:0001583	missense	92105	exon12			CTCTGGATGAATC	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1378T>G	11.37:g.77635932A>C	ENSP00000434466:p.Ser460Ala		249	0	0		232	0.02	5	NM_033547	32	0	0	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119484	0.77323	4.57E-4	0.0	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.43294	0.95;1.52	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.66297	2.02	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.65709	-0.6102	10	0.66056	D	0.02	-2.9581	14.2909	0.66278	1.0:0.0:0.0:0.0	.	460	Q96HW7	INT4_HUMAN	A	460;311;460	ENSP00000434466:S460A;ENSP00000433644:S460A	ENSP00000346913:S311A	S	-	1	0	INTS4	77313580	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.579000	0.90781	2.015000	0.59207	0.397000	0.26171	TCC			0.398	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390927.1		NM_033547		C	77635932	A	C	77635932	3	2	122	1	0	0	0	0	1	0	0	0	7795	333	12	4	1561	4	INTS4	11	77635932	Missense_Mutation	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10	13102598	77635932	57370584	30	9111											
ANGPTL5	253935	mdanderson.org	37	chr11	101775579	101775579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgtgaggaaaaggatcCagctgttttctaaaaacttc	12	12	10	7	0	2	1	0	1	2	0	4	3	3	3	1	3	2	2	1	3	5	4			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr11:101775579C>T	ENST00000334289.3	-	5	1000	c.405G>A	c.(403-405)ctG>ctA	p.L135L		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	135						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GAAAAGGATCCAGCTGTTTTC	0.348																																					p.L135L													.	.			0			c.G405A												96	100	99					11																	101775579		2203	4299	6502	SO:0001819	synonymous_variant	253935	exon5			AGGATCCAGCTGT	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.405G>A	11.37:g.101775579C>T			24	0	0		30	0.1	3	NM_178127	0		0	A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	CCDS8312.1																																																																																					0.348	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394138.1		NM_178127		T	101775579	C	T	101775579	2	4	122	1	0	0	0	0	0	0	0	1	617	581	21	3		3	ANGPTL5	11	101775579	Silent	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10	24139647	101775579	33230937	31	9112											
TIRAP	114609	mdanderson.org	37	chr11	126162383	126162383	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacagactggttcaggCagaccctgctgaagaagccc	10	5	10	16	0	1	4	1	1	0	3	1	4	1	4	4	2	2	3	4	2	2	1	rs202146623		TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr11:126162383C>T	ENST00000392680.2	+	5	484	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	RP11-712L6.7_ENST00000533378.1_RNA|TIRAP_ENST00000392678.3_Nonsense_Mutation_p.Q27*|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392679.1_Nonsense_Mutation_p.Q27*	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	27					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|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 tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CTGGTTCAGGCAGACCCTGCT	0.607																																					p.Q27X													.	.			0			c.C79T							C	stop/GLN,stop/GLN	1,4401	2.1+/-5.4	0,1,2200	70	66	67		79,79	5.3	1	11		67	4,8592	3.7+/-12.6	0,4,4294	no	stop-gained,stop-gained	TIRAP	NM_001039661.1,NM_148910.2	,	0,5,6494	TT,TC,CC		0.0465,0.0227,0.0385	,	27/222,27/236	126162383	5,12993	2201	4298	6499	SO:0001587	stop_gained	114609	exon5			TTCAGGCAGACCC	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"MyD88 adapter-like"	606252	"Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.79C>T	11.37:g.126162383C>T	ENSP00000376447:p.Gln27*		60	0	0		42	0.07	3	NM_148910	3	0	0	B3KW65|Q56UH9|Q56UI0|Q8N5E5	Nonsense_Mutation	SNP	ENST00000392680.2	37	CCDS8472.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178546	0.57692	2.27E-4	4.65E-4	ENSG00000150455	ENST00000392679;ENST00000279992;ENST00000392678;ENST00000392680	.	.	.	5.27	5.27	0.74061	.	0.212694	0.33161	N	0.005218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-16.6305	14.9309	0.70914	0.1436:0.8564:0.0:0.0	.	.	.	.	X	27	.	ENSP00000279992:Q27X	Q	+	1	0	TIRAP	125667593	0.981000	0.34729	1.000000	0.80357	0.526000	0.34562	1.107000	0.31110	2.614000	0.88457	0.655000	0.94253	CAG	0.001		0.607	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000277092.1		NM_148910		T	126162383	C	T	126162383	4	4	122	1	0	0	0	0	0	1	0	0	15950	711	25	2	85	2	TIRAP	11	126162383	Nonsense_Mutation	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10	24386804	126162383	8844133	32	9113											
GLB1L2	89944	mdanderson.org	37	chr11	134226237	134226237	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgtgcaggtggagaatGaatatggttcctataataaa	13	12	11	5	1	0	2	0	1	0	1	1	3	1	2	2	3	2	2	2	3	7	6	rs146193618		TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr11:134226237G>T	ENST00000535456.2	+	6	789	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	GLB1L2_ENST00000389881.3_Nonsense_Mutation_p.E201*|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Nonsense_Mutation_p.E201*	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	201					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGTGGAGAATGAATATGGTTC	0.478																																					p.E201X													.	.			0			c.G601T												195	199	198					11																	134226237		2201	4297	6498	SO:0001587	stop_gained	89944	exon6			GAGAATGAATATG		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.601G>T	11.37:g.134226237G>T	ENSP00000444628:p.Glu201*		46	0	0		33	0.09	3	NM_138342	1	0	0	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Nonsense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.634797|6.634797	0.97722|0.97722	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089;ENST00000533324	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	-27.4646|-27.4646	16.8905|16.8905	0.86086|0.86086	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	201|139;28	.|.	ENSP00000344659:E201X|.	E|X	+|+	1|2	0|2	GLB1L2|GLB1L2	133731447|133731447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	7.379000|7.379000	0.79691|0.79691	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	GAA|TGA			0.478	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393629.2		NM_138342		T	134226237	G	T	134226237	4	4	122	1	0	0	0	0	0	1	0	0	6443	1291	45	3	623	3	GLB1L2	11	134226237	Nonsense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	8063854	134226237	780279	33	9114											
PCBP2	5094	broad.mit.edu;ucsc.edu	37	chr12	53865577	53865577	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattagcctggctcaataTctaatcaatgtcaggtaaga	14	11	8	8	0	4	1	3	0	1	1	4	1	4	1	1	2	2	3	1	2	6	4			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr12:53865577T>G	ENST00000439930.3	+	13	1069	c.1047T>G	c.(1045-1047)taT>taG	p.Y349*	PCBP2_ENST00000552819.1_Nonsense_Mutation_p.Y306*|PCBP2_ENST00000552296.2_Nonsense_Mutation_p.Y345*|PCBP2_ENST00000437231.1_Nonsense_Mutation_p.Y302*|PCBP2_ENST00000359282.5_Nonsense_Mutation_p.Y315*|PCBP2_ENST00000549863.1_Nonsense_Mutation_p.Y305*|PCBP2_ENST00000546463.1_Nonsense_Mutation_p.Y346*|PCBP2_ENST00000603815.1_Nonsense_Mutation_p.Y349*|PCBP2_ENST00000548933.1_Nonsense_Mutation_p.Y319*|PCBP2_ENST00000359462.5_Nonsense_Mutation_p.Y350*|PCBP2_ENST00000455667.3_Nonsense_Mutation_p.Y302*|PCBP2_ENST00000447282.1_Nonsense_Mutation_p.Y319*			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	349	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCTCAATATCTAATCAATG	0.443																																					p.Y350X													.	PCBP2	38		0			c.T1050G												84	72	76					12																	53865577		2203	4300	6503	SO:0001587	stop_gained	5094	exon14			TCAATATCTAATC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.1047T>G	12.37:g.53865577T>G	ENSP00000408949:p.Tyr349*		148	0	0		114	0.04	4	NM_005016	2328	0.19	444	A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Nonsense_Mutation	SNP	ENST00000439930.3	37	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678793	0.88542	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	.	.	.	5.44	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0624	0.30640	0.0:0.1602:0.0:0.8398	.	.	.	.	X	315;319;302;349;305;350;292;346;345;307;306;302;319;266;179	.	ENSP00000352228:Y315X	Y	+	3	2	PCBP2	52151844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.178000	0.31981	1.047000	0.40274	0.528000	0.53228	TAT			0.443	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000407545.2	rescued with RNA-seq	NM_005016		G	53865577	T	G	53865577	4	3	122	1	0	0	0	0	0	1	0	0	11518	1442	50	4	1100	4	PCBP2	12	53865577	Nonsense_Mutation	SNP	T	TCGA-XE-AAOD-01A-11D-A435-10		53865577	79986318	34	9115											
DNAH10	196385	mdanderson.org	37	chr12	124256228	124256228	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggacaaagagatttcaGaaaaactcccttccaaagta	19	8	6	8	0	1	2	1	0	0	2	3	4	3	3	2	1	1	1	2	1	6	3			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr12:124256228G>T	ENST00000409039.3	+	3	221	c.196G>T	c.(196-198)Gaa>Taa	p.E66*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	66	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGATTTCAGAAAAACTCCC	0.468																																					p.E66X													.	.			0			c.G196T												77	72	74					12																	124256228		1854	4092	5946	SO:0001587	stop_gained	196385	exon3			ATTTCAGAAAAAC	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.196G>T	12.37:g.124256228G>T	ENSP00000386770:p.Glu66*		63	0	0		42	0.07	3	NM_207437	0		0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908321	0.72868	.	.	ENSG00000197653	ENST00000409039	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	11.9701	0.53060	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000386770:E66X	E	+	1	0	DNAH10	122822181	0.075000	0.21258	0.170000	0.22879	0.097000	0.18754	2.055000	0.41345	2.071000	0.62044	0.591000	0.81541	GAA			0.468	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335420.3				T	124256228	G	T	124256228	4	4	122	1	0	0	0	0	0	1	0	0	4603	943	33	3	206	3	DNAH10	12	124256228	Nonsense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	70390651	124256228	9595667	35	9116											
EP400	57634	hgsc.bcm.edu;mdanderson.org	37	chr12	132547147	132547147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacagcagcaGcagcaacagacgacgacgac	16	0	11	14	3	0	1	0	0	0	1	0	4	0	1	0	0	9	7	0	0	2	0			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr12:132547147G>A	ENST00000333577.4	+	48	8452	c.8343G>A	c.(8341-8343)caG>caA	p.Q2781Q	EP400_ENST00000389562.2_Silent_p.Q2744Q|EP400_ENST00000389561.2_Silent_p.Q2745Q|EP400_ENST00000332482.4_Silent_p.Q2708Q|EP400_ENST00000330386.6_Silent_p.Q2664Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2781	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aacagcagcagcagcaacagA	0.612																																					p.Q2745Q													.	.			0			c.G8235A												61	48	52					12																	132547147		2203	4300	6503	SO:0001819	synonymous_variant	57634	exon47			GCAGCAGCAGCAA	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8343G>A	12.37:g.132547147G>A			150	0	0		149	0.07	10	NM_015409	53	0	0	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																						0.612	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_015409		A	132547147	G	A	132547147	2	1	122	1	0	0	0	0	0	0	0	1	5156	962	34	2		2	EP400	12	132547147	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	8290919	132547147	1304748	36	9117											
TMEM30B	161291	mdanderson.org	37	chr14	61747673	61747673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggtcgcctgtatagtcgtActccagctccttgatgccgt	5	12	11	13	4	0	1	0	1	0	0	4	1	2	1	4	1	3	3	4	1	3	4			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr14:61747673A>G	ENST00000555868.1	-	1	885	c.193T>C	c.(193-195)Tac>Cac	p.Y65H	TMEM30B_ENST00000355702.2_Missense_Mutation_p.Y65H|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	65					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GTATAGTCGTACTCCAGCTCC	0.697																																					p.Y65H													.	.			0			c.T193C												7	6	6					14																	61747673		1976	3871	5847	SO:0001583	missense	161291	exon1			AGTCGTACTCCAG	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.193T>C	14.37:g.61747673A>G	ENSP00000450842:p.Tyr65His		10	0	0		13	0.15	2	NM_001017970	0		0	B3KR84|Q14D00	Missense_Mutation	SNP	ENST00000555868.1	37	CCDS32093.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308505	0.40895	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	4.68	3.5	0.40072	.	0.462575	0.20950	N	0.082767	T	0.29882	0.0747	L	0.38175	1.15	0.25588	N	0.98673	B	0.06786	0.001	B	0.11329	0.006	T	0.18178	-1.0345	9	0.42905	T	0.14	-20.5078	6.2931	0.21071	0.803:0.0:0.197:0.0	.	65	Q3MIR4	CC50B_HUMAN	H	65	.	ENSP00000347930:Y65H	Y	-	1	0	TMEM30B	60817426	0.998000	0.40836	0.997000	0.53966	0.954000	0.61252	0.424000	0.21330	0.798000	0.33994	0.529000	0.55759	TAC			0.697	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413358.1		XM_090844		G	61747673	A	G	61747673	3	3	122	1	0	0	0	0	1	0	0	0	16177	391	14	4	866	4	TMEM30B	14	61747673	Missense_Mutation	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10		61747673	45601867	37	9118											
DPP8	54878	mdanderson.org	37	chr15	65744370	65744370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcattctggtcagggtgaCccatataacgttccgtgtat	8	14	10	9	2	3	1	2	1	1	0	4	1	4	1	2	2	1	3	2	2	3	6			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr15:65744370C>T	ENST00000341861.5	-	18	3970	c.2390G>A	c.(2389-2391)gGt>gAt	p.G797D	DPP8_ENST00000339244.5_Missense_Mutation_p.G624D|DPP8_ENST00000321147.6_Missense_Mutation_p.G746D|DPP8_ENST00000358939.4_Missense_Mutation_p.G681D|DPP8_ENST00000559233.1_Missense_Mutation_p.G797D|DPP8_ENST00000321118.7_Missense_Mutation_p.G748D|DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000300141.6_Missense_Mutation_p.G781D	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	797					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						GTCAGGGTGACCCATATAACG	0.438																																					p.G797D													.	.			0			c.G2390A												162	157	159					15																	65744370		2201	4299	6500	SO:0001583	missense	54878	exon19			GGGTGACCCATAT	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.2390G>A	15.37:g.65744370C>T	ENSP00000339208:p.Gly797Asp		71	0	0		47	0.06	3	NM_197960	34	0	0	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661295	0.67700	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.42	5.42	0.78866	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	N	0.25485	0.75	0.58432	D	0.999997	P;B;B;P;B;B	0.40376	0.715;0.292;0.169;0.506;0.169;0.203	P;B;B;B;B;B	0.57548	0.823;0.268;0.164;0.131;0.164;0.253	T	0.40757	-0.9546	10	0.02654	T	1	-13.9446	19.2151	0.93774	0.0:1.0:0.0:0.0	.	624;748;781;681;746;797	C9JSG1;Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;.;DPP8_HUMAN	D	797;681;781;746;748;624	ENSP00000339208:G797D;ENSP00000351817:G681D;ENSP00000300141:G781D;ENSP00000318111:G746D;ENSP00000316373:G748D;ENSP00000341230:G624D	ENSP00000300141:G781D	G	-	2	0	DPP8	63531423	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.593000	0.61034	2.542000	0.85734	0.563000	0.77884	GGT			0.438	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256847.1		NM_017743		T	65744370	C	T	65744370	3	4	122	1	0	0	0	0	1	0	0	0	4737	507	18	3	318	3	DPP8	15	65744370	Missense_Mutation	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10		65744370	36787022	38	9119											
CD276	80381	mdanderson.org	37	chr15	74000783	74000783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcgtgtgctggagaaaGatcaaacagagctgtgagga	12	9	14	6	1	1	4	1	1	0	3	2	6	1	5	0	2	3	3	0	2	2	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr15:74000783G>T	ENST00000318443.5	+	7	1775	c.1473G>T	c.(1471-1473)aaG>aaT	p.K491N	CD276_ENST00000537340.2_Missense_Mutation_p.K345N|CD276_ENST00000561213.1_Missense_Mutation_p.K491N|CD276_ENST00000318424.5_Missense_Mutation_p.K273N|CD276_ENST00000564751.1_Missense_Mutation_p.K273N	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	491					cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCTGGAGAAAGATCAAACAGA	0.547																																					p.K491N													.	.			0			c.G1473T												138	107	118					15																	74000783		2198	4297	6495	SO:0001583	missense	80381	exon7			GAGAAAGATCAAA	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1473G>T	15.37:g.74000783G>T	ENSP00000320084:p.Lys491Asn		81	0	0		42	0.07	3	NM_001024736	138	0	0	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	CCDS32288.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.71|15.71	2.914146|2.914146	0.52546|0.52546	.|.	.|.	ENSG00000103855|ENSG00000103855	ENST00000543481|ENST00000318424;ENST00000318443;ENST00000537340	.|T;T;T	.|0.21543	.|2.0;2.17;2.15	5.01|5.01	2.76|2.76	0.32466|0.32466	.|.	.|0.251153	.|0.38164	.|N	.|0.001782	T|T	0.25644|0.25644	0.0624|0.0624	L|L	0.27053|0.27053	0.805|0.805	0.44834|0.44834	D|D	0.997845|0.997845	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.985;0.991	.|D;D;P;P	.|0.71414	.|0.963;0.973;0.777;0.889	T|T	0.02588|0.02588	-1.1137|-1.1137	6|10	0.87932|0.32370	D|T	0|0.25	-9.4183|-9.4183	6.7109|6.7109	0.23276|0.23276	0.2341:0.1442:0.6217:0.0|0.2341:0.1442:0.6217:0.0	.|.	.|437;273;491;491	.|B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.|.;.;CD276_HUMAN;.	Y|N	136|273;491;345	.|ENSP00000320058:K273N;ENSP00000320084:K491N;ENSP00000441087:K345N	ENSP00000441338:D136Y|ENSP00000320058:K273N	D|K	+|+	1|3	0|2	CD276|CD276	71787836|71787836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.811000|0.811000	0.45836|0.45836	0.864000|0.864000	0.27926|0.27926	1.095000|1.095000	0.41419|0.41419	-0.224000|-0.224000	0.12420|0.12420	GAT|AAG			0.547	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268979.1		NM_025240		T	74000783	G	T	74000783	3	4	122	1	0	0	0	0	1	0	0	0	2994	933	33	3	1495	3	CD276	15	74000783	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	8256413	74000783	28530609	39	9120											
ABCA3	21	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2358479	2358479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaatttcccaatgagctgGgctcccattgccatggcgac	9	10	9	13	1	1	1	1	1	0	0	3	2	3	1	3	2	2	2	3	2	2	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr16:2358479G>A	ENST00000301732.5	-	11	1957	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	419					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)	CAATGAGCTGGGCTCCCATTG	0.542																																					p.A419A													.	.			0			c.C1257T												107	90	96					16																	2358479		2198	4300	6498	SO:0001819	synonymous_variant	21	exon11			GAGCTGGGCTCCC	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.1257C>T	16.37:g.2358479G>A			65	0	0		61	0.21	13	NM_001089	2	0	0	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																					0.542	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250784.2		NM_001089		A	2358479	G	A	2358479	2	1	122	1	0	0	0	0	0	0	0	1	33	1219	43	3		3	ABCA3	16	2358479	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		2358479	87996274	40	9121											
ZNF785	146540	mdanderson.org	37	chr16	30594392	30594392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaacccctctggcggaagCggcgcccgcagtcggggcag	6	3	18	14	5	1	0	0	0	1	0	2	2	1	2	3	6	2	2	3	6	2	0			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr16:30594392C>T	ENST00000395216.2	-	3	866	c.707G>A	c.(706-708)cGc>cAc	p.R236H	ZNF785_ENST00000470110.1_Missense_Mutation_p.R221H|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	236					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						CTGGCGGAAGCGGCGCCCGCA	0.652																																					p.R236H													.	.			0			c.G707A												29	32	31					16																	30594392		2197	4299	6496	SO:0001583	missense	146540	exon3			CGGAAGCGGCGCC	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.707G>A	16.37:g.30594392C>T	ENSP00000378642:p.Arg236His		44	0	0		42	0.07	3	NM_152458	7	0	0	O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	17.00	3.277904	0.59758	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.19938	2.11;2.11	4.25	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20047	0.0482	L	0.53249	1.67	0.09310	N	1	B;D;B	0.57257	0.003;0.979;0.002	B;B;B	0.42738	0.003;0.396;0.001	T	0.12630	-1.0540	9	0.66056	D	0.02	.	7.3112	0.26475	0.0:0.6765:0.0:0.3235	.	201;236;221	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	H	221;201;236	ENSP00000420340:R221H;ENSP00000378642:R236H	ENSP00000378642:R236H	R	-	2	0	ZNF785	30501893	0.188000	0.23250	0.005000	0.12908	0.169000	0.22640	1.445000	0.35079	0.076000	0.16826	-0.374000	0.07098	CGC			0.652	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255529.2		NM_152458		T	30594392	C	T	30594392	3	4	122	1	0	0	0	0	1	0	0	0	18180	768	27	1	514	1	ZNF785	16	30594392	Missense_Mutation	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10	28235913	30594392	59760361	41	9122											
ZNF668	79759	mdanderson.org	37	chr16	31073545	31073545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgtgagcgaggatgagCgggagaagctcttcccgcac	9	5	16	11	4	1	3	0	2	1	1	2	6	2	4	1	3	3	3	1	3	1	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr16:31073545C>T	ENST00000538906.1	-	3	1488	c.704G>A	c.(703-705)cGc>cAc	p.R235H	ZNF668_ENST00000539836.3_Missense_Mutation_p.R258H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R235H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R235H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R258H|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.R235H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	235					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						CGAGGATGAGCGGGAGAAGCT	0.667																																					p.R258H	Colon(181;1111 1980 5060 10512 25785)												.	.			0			c.G773A												29	34	32					16																	31073545		2196	4300	6496	SO:0001583	missense	79759	exon4			GATGAGCGGGAGA		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.704G>A	16.37:g.31073545C>T	ENSP00000440149:p.Arg235His		37	0	0		52	0.06	3	NM_001172669	51	0	0	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530385	0.85706	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.02	5.02	0.67125	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	0.11110	0.0271	N	0.20986	0.625	0.58432	D	0.999996	P	0.47962	0.903	B	0.34991	0.193	T	0.15838	-1.0423	10	0.26408	T	0.33	-39.7347	17.2644	0.87081	0.0:1.0:0.0:0.0	.	235	Q96K58	ZN668_HUMAN	H	258;235;235;235;235	ENSP00000442573:R258H;ENSP00000441349:R235H;ENSP00000440149:R235H;ENSP00000378434:R235H;ENSP00000300849:R235H	ENSP00000300849:R235H	R	-	2	0	ZNF668	30981046	0.939000	0.31865	1.000000	0.80357	0.939000	0.58152	1.538000	0.36094	2.584000	0.87258	0.655000	0.94253	CGC			0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000108516.2		NM_024706		T	31073545	C	T	31073545	3	4	122	1	0	0	0	0	1	0	0	0	18098	768	27	1	1159	1	ZNF668	16	31073545	Missense_Mutation	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10	479153	31073545	59281208	42	9123											
HSF4	3299	mdanderson.org	37	chr16	67198821	67198821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacccaggcacagaccaccTgatccgctggagcccggtga	9	4	13	15	2	0	3	0	2	0	1	1	5	1	5	5	4	1	2	5	4	0	0			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr16:67198821T>C	ENST00000521374.1	+	1	107	c.107T>C	c.(106-108)cTg>cCg	p.L36P	HSF4_ENST00000584272.1_Missense_Mutation_p.L36P|HSF4_ENST00000421453.1_Missense_Mutation_p.L36P|HSF4_ENST00000264009.8_Missense_Mutation_p.L36P|RP11-5A19.5_ENST00000518227.1_3'UTR			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	36					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)		ACAGACCACCTGATCCGCTGG	0.726																																					p.L36P													.	.			0			c.T107C												8	11	10					16																	67198821		1775	3924	5699	SO:0001583	missense	3299	exon3			ACCACCTGATCCG	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.107T>C	16.37:g.67198821T>C	ENSP00000430947:p.Leu36Pro		26	0	0		33	0.09	3	NM_001538	2	0	0	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782582	0.90282	.	.	ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (3);	0.000000	0.64402	D	0.000001	D	0.95500	0.8538	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96109	0.9075	10	0.87932	D	0	-0.0013	14.3944	0.67001	0.0:0.0:0.0:1.0	.	36;36	Q9ULV5-2;Q9ULV5	.;HSF4_HUMAN	P	36	ENSP00000408815:L36P;ENSP00000264009:L36P;ENSP00000428978:L36P;ENSP00000430947:L36P	ENSP00000264009:L36P	L	+	2	0	HSF4	65756322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.859000	0.86982	2.143000	0.66587	0.418000	0.28097	CTG			0.726	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375080.1		NM_001538		C	67198821	T	C	67198821	3	2	122	1	0	0	0	0	1	0	0	0	7413	1580	55	4	109	4	HSF4	16	67198821	Missense_Mutation	SNP	T	TCGA-XE-AAOD-01A-11D-A435-10	36125276	67198821	23155932	43	9124											
FAM65A	79567	mdanderson.org	37	chr16	67578273	67578273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcccgccccctcagcacggGgtgtccagctctggatgctg	4	8	13	16	2	2	0	1	0	1	0	3	1	3	1	4	3	4	3	4	3	0	0			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr16:67578273G>T	ENST00000379312.3	+	15	2805	c.2684G>T	c.(2683-2685)gGg>gTg	p.G895V	FAM65A_ENST00000428437.2_Missense_Mutation_p.G905V|FAM65A_ENST00000540839.3_Missense_Mutation_p.G910V|FAM65A_ENST00000042381.4_Missense_Mutation_p.G891V|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.G911V|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	895						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCAGCACGGGGTGTCCAGCT	0.642																																					p.G911V													.	.			0			c.G2732T												96	88	91					16																	67578273		2198	4300	6498	SO:0001583	missense	79567	exon15			GCACGGGGTGTCC	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2684G>T	16.37:g.67578273G>T	ENSP00000368614:p.Gly895Val		40	0	0		28	0.11	3	NM_001193523	43	0	0	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224674	0.79576	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	D;D;D	0.88741	-2.42;-2.42;-2.42	5.55	4.56	0.56223	.	0.282689	0.39985	N	0.001214	D	0.90304	0.6967	M	0.77313	2.365	0.52099	D	0.99994	P;P;P	0.49253	0.921;0.921;0.921	P;P;P	0.49451	0.488;0.611;0.488	D	0.90086	0.4174	10	0.87932	D	0	-12.8911	8.7131	0.34395	0.1251:0.0:0.8749:0.0	.	905;911;895	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	V	895;891;911;905	ENSP00000368614:G895V;ENSP00000042381:G891V;ENSP00000400099:G911V	ENSP00000042381:G891V	G	+	2	0	FAM65A	66135774	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	5.775000	0.68915	1.191000	0.43056	0.655000	0.94253	GGG			0.642	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000268866.3		NM_024519		T	67578273	G	T	67578273	3	4	122	1	0	0	0	0	1	0	0	0	5612	1232	43	3	2726	3	FAM65A	16	67578273	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	379452	67578273	22776480	44	9125											
ANKRD11	29123	mdanderson.org	37	chr16	89346815	89346815	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggtggagatggcggcGgggacggcgtccactccgtc	5	7	18	11	5	1	2	0	1	1	1	4	4	3	3	2	7	0	0	2	7	0	0			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr16:89346815G>T	ENST00000301030.4	-	9	6595	c.6135C>A	c.(6133-6135)ccC>ccA	p.P2045P	ANKRD11_ENST00000378330.2_Silent_p.P2045P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2045	Pro-rich.				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)		AGATGGCGGCGGGGACGGCGT	0.711																																					p.P2045P													.	.			0			c.C6135A												6	8	8					16																	89346815		1600	3403	5003	SO:0001819	synonymous_variant	29123	exon10			GGCGGCGGGGACG	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.6135C>A	16.37:g.89346815G>T			29	0	0		21	0.1	2	NM_001256182	55	0.02	1	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																					0.711	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		T	89346815	G	T	89346815	2	4	122	1	0	0	0	0	0	0	0	1	639	1103	39	1		1	ANKRD11	16	89346815	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	21768542	89346815	1007938	45	9126											
SPNS2	124976	mdanderson.org	37	chr17	4439658	4439658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctttcgtcgtggtcctggGcggcatgttcttcctcgcca	2	13	11	15	4	1	0	0	0	1	0	6	0	3	0	4	3	0	2	4	3	0	3			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr17:4439658G>T	ENST00000329078.3	+	11	1754	c.1544G>T	c.(1543-1545)gGc>gTc	p.G515V		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	515					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GTGGTCCTGGGCGGCATGTTC	0.662																																					p.G515V													.	.			0			c.G1544T												101	83	89					17																	4439658		1568	3582	5150	SO:0001583	missense	124976	exon11			TCCTGGGCGGCAT	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1544G>T	17.37:g.4439658G>T	ENSP00000333292:p.Gly515Val		42	0	0		35	0.09	3	NM_001124758	23	0	0	B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693763	0.88735	.	.	ENSG00000183018	ENST00000329078	T	0.61158	0.13	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79375	0.4435	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83512	0.0081	10	0.87932	D	0	.	16.6284	0.84993	0.0:0.0:1.0:0.0	.	515	Q8IVW8	SPNS2_HUMAN	V	515	ENSP00000333292:G515V	ENSP00000333292:G515V	G	+	2	0	SPNS2	4386407	1.000000	0.71417	0.957000	0.39632	0.610000	0.37248	9.516000	0.98017	2.504000	0.84457	0.563000	0.77884	GGC			0.662	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438802.1				T	4439658	G	T	4439658	3	4	122	1	0	0	0	0	1	0	0	0	15098	1203	42	2	1586	2	SPNS2	17	4439658	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		4439658	76755552	46	9127											
RARA	5914	broad.mit.edu	37	chr17	38512394	38512394	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggggcgggacgggggTggcctggcccccccgccagg	2	3	23	13	3	0	0	0	0	0	0	0	1	0	1	5	10	0	0	5	10	0	0			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr17:38512394T>G	ENST00000254066.5	+	9	1760	c.1305T>G	c.(1303-1305)ggT>ggG	p.G435G	RARA_ENST00000394081.3_Silent_p.G430G|RARA_ENST00000425707.3_Silent_p.G338G|RARA_ENST00000394086.3_Silent_p.G451G|RARA_ENST00000394089.2_Silent_p.G435G|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	435					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)	GGGACGGGGGTGGCCTGGCCC	0.711			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																p.G435G				Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	.	RARA	52		0			c.T1305G												2	3	3					17																	38512394		1493	2985	4478	SO:0001819	synonymous_variant	0	exon9			CGGGGGTGGCCTG	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	ENST00000254066.5:c.1305T>G	17.37:g.38512394T>G			86	0	0		87	0.13	11	NM_000964	21	0	0	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	ENST00000254066.5	37	CCDS11366.1																																																																																					0.711	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257136.2				G	38512394	T	G	38512394	2	3	122	1	0	0	0	0	0	0	0	1	13075	1683	59	4		4	RARA	17	38512394	Silent	SNP	T	TCGA-XE-AAOD-01A-11D-A435-10	34072736	38512394	42682816	47	9128											
ITGA3	3675	mdanderson.org	37	chr17	48157689	48157689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccctgatgcccccgttGtcaccaacgtgactgtgaag	8	9	9	15	2	1	3	1	3	0	0	2	3	2	3	5	0	2	1	5	0	2	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr17:48157689G>T	ENST00000320031.8	+	22	3100	c.2770G>T	c.(2770-2772)Gtc>Ttc	p.V924F	ITGA3_ENST00000007722.7_Missense_Mutation_p.V924F	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)	924					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						TGCCCCCGTTGTCACCAACGT	0.607																																					p.V924F													.	.			0			c.G2770T												118	82	94					17																	48157689		2203	4300	6503	SO:0001583	missense	3675	exon22			CCCGTTGTCACCA	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.2770G>T	17.37:g.48157689G>T	ENSP00000315190:p.Val924Phe		39	0	0		31	0.1	3	NM_005501	30	0	0	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	9.178	1.022804	0.19433	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.48522	0.81;0.81	5.08	-6.64	0.01801	.	1.458410	0.03795	N	0.263454	T	0.34366	0.0895	N	0.24115	0.695	0.09310	N	1	B;B	0.30326	0.276;0.213	B;B	0.36030	0.216;0.071	T	0.47560	-0.9108	10	0.62326	D	0.03	.	8.1648	0.31220	0.278:0.3241:0.3979:0.0	.	924;924	P26006-1;P26006	.;ITA3_HUMAN	F	924;910;924	ENSP00000007722:V924F;ENSP00000315190:V924F	ENSP00000007722:V924F	V	+	1	0	ITGA3	45512688	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	-0.762000	0.04745	-0.964000	0.03595	0.655000	0.94253	GTC			0.607	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000366298.1		NM_005501		T	48157689	G	T	48157689	3	4	122	1	0	0	0	0	1	0	0	0	7892	1377	48	3	2856	3	ITGA3	17	48157689	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	9645295	48157689	33037521	48	9129											
C17orf80	55028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	71232215	71232215	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctacctaatgatgtacaAactacctctggtgatctcaa	13	12	5	11	0	3	2	1	2	3	0	4	2	3	2	2	1	4	1	2	1	6	4	rs372656983	byFrequency	TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr17:71232215A>G	ENST00000535032.2	+	2	707	c.594A>G	c.(592-594)caA>caG	p.Q198Q	C17orf80_ENST00000255557.4_Silent_p.Q198Q|C17orf80_ENST00000577615.1_Silent_p.Q198Q|C17orf80_ENST00000426147.2_Silent_p.Q198Q|C17orf80_ENST00000268942.8_Silent_p.Q198Q|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000359042.2_Silent_p.Q198Q			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	198						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ATGATGTACAAACTACCTCTG	0.378													A|||	3	0.000599042	0.0015	0	5008	,	,		20864	0		0	False		,,,				2504	0.001				p.Q198Q													.	.			0			c.A594G							A	,,	1,4405	2.1+/-5.4	0,1,2202	75	80	78		594,594,594	-7.4	0	17		78	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	C17orf80	NM_001100621.1,NM_001100622.1,NM_017941.4	,,	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	,,	198/574,198/584,198/610	71232215	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55028	exon3			TGTACAAACTACC	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.594A>G	17.37:g.71232215A>G			164	0	0		219	0.15	33	NM_001100621	77	0.35	27	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	CCDS11694.1																																																																																					0.378	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000441893.1		NM_017941		G	71232215	A	G	71232215	2	3	122	1	0	0	0	0	0	0	0	1	1887	11	1	4		4	C17orf80	17	71232215	Silent	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10	23074526	71232215	9962995	49	9130											
SRP68	6730	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	74046599	74046599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgctccttagtttcttcGctttcagcctaaacaagggc	8	12	9	12	2	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	4	5	rs148814451	byFrequency	TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr17:74046599G>T	ENST00000307877.2	-	9	1148	c.987C>A	c.(985-987)agC>agA	p.S329R	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.S228R|SRP68_ENST00000539137.1_Missense_Mutation_p.S291R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	329					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						TAGTTTCTTCGCTTTCAGCCT	0.517																																					p.S329R													SRP68,NS,carcinoma,-1,1	SRP68	-1	1	0			c.C987A												94	80	85					17																	74046599		2203	4300	6503	SO:0001583	missense	6730	exon9			TTCTTCGCTTTCA	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.987C>A	17.37:g.74046599G>T	ENSP00000312066:p.Ser329Arg		78	0	0		63	0.08	5	NM_014230	168	0	0	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055735	0.55325	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.87	-5.85	0.02311	.	0.121961	0.85682	D	0.000000	T	0.39410	0.1077	L	0.27053	0.805	0.80722	D	1	B;B	0.32071	0.117;0.355	B;B	0.32624	0.066;0.149	T	0.04427	-1.0952	9	0.41790	T	0.15	-19.9931	15.4917	0.75611	0.3876:0.0:0.6124:0.0	.	291;329	G3V1U4;Q9UHB9	.;SRP68_HUMAN	R	69;291;329;329;298;228	.	ENSP00000307756:S298R	S	-	3	2	SRP68	71558194	0.564000	0.26602	0.905000	0.35620	0.984000	0.73092	-0.181000	0.09740	-1.077000	0.03121	-0.290000	0.09829	AGC			0.517	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449487.1		NM_014230		T	74046599	G	T	74046599	3	4	122	1	0	0	0	0	1	0	0	0	15179	1078	38	1	928	1	SRP68	17	74046599	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	2814384	74046599	7148611	50	9131											
TNRC6C	57690	broad.mit.edu;mdanderson.org	37	chr17	76047438	76047438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccaccaccaccaccacCactaccacgagcaacaccac	16	2	2	21	1	0	0	0	0	0	0	0	1	0	0	8	0	4	1	8	0	4	2	rs541145487		TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr17:76047438C>T	ENST00000588061.1	+	5	3022	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	TNRC6C_ENST00000541771.1_Silent_p.T765T|TNRC6C_ENST00000301624.4_Silent_p.T765T|TNRC6C_ENST00000544502.1_Silent_p.T765T|TNRC6C_ENST00000588847.1_Silent_p.T765T|TNRC6C_ENST00000335749.4_Silent_p.T765T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	765	Sufficient for interaction with argonaute family proteins.|Thr-rich.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ccaccaccaccactaccacga	0.547													C|||	1	0.000199681	0	0.0014	5008	,	,		14023	0		0	False		,,,				2504	0				p.T765T													.	TNRC6C	173		0			c.C2295T												14	16	15					17																	76047438		1740	3495	5235	SO:0001819	synonymous_variant	57690	exon4			CACCACCACTACC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2295C>T	17.37:g.76047438C>T			37	0	0		47	0.06	3	NM_018996	20	0	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																					0.547	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000395947.1		NM_018996		T	76047438	C	T	76047438	2	4	122	1	0	0	0	0	0	0	0	1	16365	581	21	3		3	TNRC6C	17	76047438	Silent	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10	2000839	76047438	5147772	51	9132											
NDC80	10403	mdanderson.org	37	chr18	2608749	2608749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcttgagtccttggaGaaacacaagcacctgctaga	13	8	11	9	0	0	4	0	2	0	2	1	5	1	4	2	1	4	3	2	1	3	3			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr18:2608749G>T	ENST00000261597.4	+	15	1790	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	536	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AGTCCTTGGAGAAACACAAGC	0.428																																					p.E536D													.	.			0			c.G1608T												117	109	112					18																	2608749		2203	4300	6503	SO:0001583	missense	10403	exon15			CTTGGAGAAACAC	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1608G>T	18.37:g.2608749G>T	ENSP00000261597:p.Glu536Asp		56	0	0		50	0.06	3	NM_006101	109	0	0	Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532417	0.45073	.	.	ENSG00000080986	ENST00000261597	T	0.55234	0.53	5.53	1.51	0.23008	.	0.045304	0.85682	N	0.000000	T	0.45696	0.1355	M	0.66939	2.045	0.42144	D	0.991523	B	0.12013	0.005	B	0.14023	0.01	T	0.40794	-0.9544	10	0.40728	T	0.16	-8.2161	7.5345	0.27702	0.1347:0.0:0.6283:0.237	.	536	O14777	NDC80_HUMAN	D	536	ENSP00000261597:E536D	ENSP00000261597:E536D	E	+	3	2	NDC80	2598749	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.571000	0.23669	0.685000	0.31468	0.491000	0.48974	GAG			0.428	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254327.1		NM_006101		T	2608749	G	T	2608749	3	4	122	1	0	0	0	0	1	0	0	0	10259	933	33	3	1662	3	NDC80	18	2608749	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		2608749	75468499	52	9133											
ZNF24	7572	mdanderson.org	37	chr18	32920572	32920572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcctcttcatctggagttgGgatgataagtattgaatctt	9	17	9	6	0	4	2	1	2	3	0	5	4	5	4	1	2	0	2	1	2	3	7			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr18:32920572G>T	ENST00000261332.6	-	2	222	c.43C>A	c.(43-45)Cca>Aca	p.P15T	ZNF24_ENST00000399061.3_Missense_Mutation_p.P15T|ZNF24_ENST00000589881.1_Missense_Mutation_p.P15T	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	15					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCTGGAGTTGGGATGATAAGT	0.433																																					p.P15T	Colon(42;769 913 8916 19469 46270)												.	.			0			c.C43A												73	72	72					18																	32920572		2203	4300	6503	SO:0001583	missense	7572	exon2			GAGTTGGGATGAT	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.43C>A	18.37:g.32920572G>T	ENSP00000261332:p.Pro15Thr		44	0	0		39	0.08	3	NM_006965	22	0	0	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117247	0.56505	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.04758	3.56;3.56	4.19	4.19	0.49359	.	0.152868	0.30890	N	0.008666	T	0.03871	0.0109	L	0.38175	1.15	0.35847	D	0.826447	B;P	0.41524	0.097;0.753	B;B	0.28553	0.038;0.091	T	0.48547	-0.9026	10	0.45353	T	0.12	.	12.2506	0.54595	0.0:0.0:1.0:0.0	.	15;15	P17028-2;P17028	.;ZNF24_HUMAN	T	15	ENSP00000261332:P15T;ENSP00000382015:P15T	ENSP00000261332:P15T	P	-	1	0	ZNF24	31174570	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.768000	0.62293	2.338000	0.79540	0.655000	0.94253	CCA			0.433	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255769.1		NM_006965		T	32920572	G	T	32920572	3	4	122	1	0	0	0	0	1	0	0	0	17815	1232	43	3	1075	3	ZNF24	18	32920572	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	30311823	32920572	45156676	53	9134											
PIGN	23556	mdanderson.org	37	chr18	59781853	59781853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttaaaatgttgaactGtttggaatcagaaagcagtc	13	15	8	5	0	2	2	1	1	1	1	3	3	2	3	0	1	2	3	0	1	5	5			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr18:59781853G>T	ENST00000357637.5	-	15	1607	c.1192C>A	c.(1192-1194)Cag>Aag	p.Q398K	PIGN_ENST00000400334.3_Missense_Mutation_p.Q398K	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	398					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|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)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATGTTGAACTGTTTGGAATCA	0.289																																					p.Q398K													.	.			0			c.C1192A												62	52	55					18																	59781853		1632	3742	5374	SO:0001583	missense	23556	exon15			TGAACTGTTTGGA	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.1192C>A	18.37:g.59781853G>T	ENSP00000350263:p.Gln398Lys		51	0	0		49	0.06	3	NM_176787	20	0	0	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135835	0.21123	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.26373	1.74;1.74	4.93	4.93	0.64822	.	0.139286	0.49305	D	0.000147	T	0.30916	0.0780	M	0.69463	2.115	0.58432	D	0.999995	B;B	0.18310	0.011;0.027	B;B	0.17979	0.017;0.02	T	0.08086	-1.0739	9	.	.	.	-8.8252	18.1231	0.89578	0.0:0.0:1.0:0.0	.	398;398	B2RCI8;O95427	.;PIGN_HUMAN	K	398	ENSP00000350263:Q398K;ENSP00000383188:Q398K	.	Q	-	1	0	PIGN	57932833	1.000000	0.71417	0.960000	0.40013	0.192000	0.23643	5.332000	0.65911	2.438000	0.82558	0.591000	0.81541	CAG			0.289	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449757.2		NM_176787		T	59781853	G	T	59781853	3	4	122	1	0	0	0	0	1	0	0	0	11910	1386	48	3	1671	3	PIGN	18	59781853	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	26861281	59781853	18295395	54	9135											
NOTCH3	4854	mdanderson.org	37	chr19	15296450	15296450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacctccctcgccgcatggGctggaagcacactcattgat	9	8	10	14	2	1	1	1	1	0	0	3	3	2	2	3	2	2	3	3	2	2	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr19:15296450G>A	ENST00000263388.2	-	13	2067	c.1992C>T	c.(1990-1992)agC>agT	p.S664S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	664	EGF-like 17; calcium-binding. {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)			CGCCGCATGGGCTGGAAGCAC	0.607																																					p.S664S													.	.			0			c.C1992T												90	73	79					19																	15296450		2203	4300	6503	SO:0001819	synonymous_variant	4854	exon13			GCATGGGCTGGAA	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.1992C>T	19.37:g.15296450G>A			33	0	0		31	0.1	3	NM_000435	26	0	0	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																					0.607	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465714.1		NM_000435		A	15296450	G	A	15296450	2	1	122	1	0	0	0	0	0	0	0	1	10567	1194	42	2		2	NOTCH3	19	15296450	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		15296450	43832533	55	9136											
SPRED3	399473	mdanderson.org	37	chr19	38885395	38885395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcttcgggccgaccaCgcccccccagcgccgccgct	4	5	11	21	6	1	0	1	0	0	0	2	1	1	0	7	2	1	2	7	2	0	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr19:38885395C>T	ENST00000338502.4	+	4	639	c.536C>T	c.(535-537)aCg>aTg	p.T179M	SPRED3_ENST00000587013.1_Missense_Mutation_p.T223M|SPRED3_ENST00000586301.1_Missense_Mutation_p.T179M	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	179					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGCCGACCACGCCCCCCCAG	0.726																																					p.T179M													.	.			0			c.C536T												5	8	7					19																	38885395		2033	4147	6180	SO:0001583	missense	399473	exon4			CGACCACGCCCCC		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.536C>T	19.37:g.38885395C>T	ENSP00000345405:p.Thr179Met		31	0	0		24	0.13	3	NM_001042522	0		0	Q2MJR1	Missense_Mutation	SNP	ENST00000338502.4	37	CCDS42560.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811041	0.50421	.	.	ENSG00000188766	ENST00000338502	T	0.80738	-1.41	2.99	1.95	0.26073	.	0.755569	0.11605	N	0.547385	T	0.63462	0.2513	N	0.19112	0.55	0.80722	D	1	B	0.21381	0.055	B	0.06405	0.002	T	0.62015	-0.6943	10	0.41790	T	0.15	-3.7413	5.2512	0.15522	0.0:0.8386:0.0:0.1614	.	179	Q2MJR0	SPRE3_HUMAN	M	179	ENSP00000345405:T179M	ENSP00000345405:T179M	T	+	2	0	SPRED3	43577235	0.307000	0.24500	0.998000	0.56505	0.563000	0.35712	1.846000	0.39289	1.692000	0.51112	0.313000	0.20887	ACG			0.726	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459216.1		XM_351191		T	38885395	C	T	38885395	3	4	122	1	0	0	0	0	1	0	0	0	15117	536	19	1	590	1	SPRED3	19	38885395	Missense_Mutation	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10	23588945	38885395	20243588	56	9137											
GRIK5	2901	mdanderson.org	37	chr19	42507589	42507589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgataaaaatgccaccaatGttctccatgcccaaacctgg	14	8	6	13	1	1	0	0	0	1	0	2	1	1	0	5	1	3	1	5	1	5	2	rs141544447		TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr19:42507589G>T	ENST00000262895.3	-	18	2408	c.2409C>A	c.(2407-2409)aaC>aaA	p.N803K	GRIK5_ENST00000301218.4_Missense_Mutation_p.N803K|GRIK5_ENST00000593562.1_Missense_Mutation_p.N803K	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	803					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TGCCACCAATGTTCTCCATGC	0.582																																					p.N803K													.	.			0			c.C2409A												101	84	90					19																	42507589		2203	4300	6503	SO:0001583	missense	2901	exon18			ACCAATGTTCTCC		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2409C>A	19.37:g.42507589G>T	ENSP00000262895:p.Asn803Lys		79	0	0		51	0.06	3	NM_002088	2	0	0	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.064023|2.064023	0.36373|0.36373	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000454993|ENST00000262895;ENST00000301218	.|T;T	.|0.54675	.|0.56;0.56	4.07|4.07	-0.699|-0.699	0.11277|0.11277	.|Ionotropic glutamate receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51363|0.51363	0.1670|0.1670	M|M	0.76727|0.76727	2.345|2.345	0.43103|0.43103	D|D	0.994793|0.994793	.|B	.|0.18461	.|0.028	.|B	.|0.33799	.|0.17	T|T	0.48854|0.48854	-0.8998|-0.8998	5|10	.|0.49607	.|T	.|0.09	.|.	7.9586|7.9586	0.30057|0.30057	0.5198:0.0:0.4802:0.0|0.5198:0.0:0.4802:0.0	.|.	.|803	.|Q16478	.|GRIK5_HUMAN	N|K	180|803	.|ENSP00000262895:N803K;ENSP00000301218:N803K	.|ENSP00000262895:N803K	H|N	-|-	1|3	0|2	GRIK5|GRIK5	47199429|47199429	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.892000|0.892000	0.51952|0.51952	0.667000|0.667000	0.25112|0.25112	0.061000|0.061000	0.16311|0.16311	0.561000|0.561000	0.74099|0.74099	CAT|AAC			0.582	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463453.1				T	42507589	G	T	42507589	3	4	122	1	0	0	0	0	1	0	0	0	6792	1368	48	3	541	3	GRIK5	19	42507589	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	3622194	42507589	16621394	57	9138											
LIG1	3978	mdanderson.org	37	chr19	48636349	48636349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccaacattggtttcagggGaatccctgggaaaggaggag	11	7	16	7	0	1	0	1	0	0	0	2	4	2	4	2	7	1	1	2	7	3	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr19:48636349G>T	ENST00000263274.7	-	18	2034	c.1615C>A	c.(1615-1617)Ccc>Acc	p.P539T	LIG1_ENST00000536218.1_Missense_Mutation_p.P471T|LIG1_ENST00000427526.2_Missense_Mutation_p.P508T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	539					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|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)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGTTTCAGGGGAATCCCTGGG	0.547								Nucleotide excision repair (NER)																													p.P539T													.	.			0			c.C1615A												85	83	84					19																	48636349		2203	4300	6503	SO:0001583	missense	3978	exon18			TCAGGGGAATCCC		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1615C>A	19.37:g.48636349G>T	ENSP00000263274:p.Pro539Thr		73	0	0		48	0.06	3	NM_000234	143	0	0	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070641	0.76301	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T;T;T	0.57907	0.37;0.37;0.37	5.48	4.43	0.53597	DNA ligase, ATP-dependent, N-terminal (1);	0.051572	0.85682	D	0.000000	T	0.78861	0.4350	M	0.93638	3.44	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	0.84923	0.0855	10	0.87932	D	0	-21.7801	14.264	0.66104	0.0:0.1505:0.8495:0.0	.	508;471;539	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	T	539;570;508;471	ENSP00000263274:P539T;ENSP00000442841:P508T;ENSP00000441531:P471T	ENSP00000263274:P539T	P	-	1	0	LIG1	53328161	1.000000	0.71417	0.835000	0.33067	0.885000	0.51271	6.589000	0.74080	1.424000	0.47217	0.655000	0.94253	CCC			0.547	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465575.1		NM_000234		T	48636349	G	T	48636349	3	4	122	1	0	0	0	0	1	0	0	0	8796	1174	41	3	1188	3	LIG1	19	48636349	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	6128760	48636349	10492634	58	9139											
USP29	57663	broad.mit.edu	37	chr19	57641367	57641367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttatttgtaaagcttgtGgtcatgctgttctcaaggta	8	16	9	8	0	2	0	2	0	1	0	3	0	2	0	1	2	2	5	1	2	5	6			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr19:57641367G>T	ENST00000254181.4	+	4	1778	c.1324G>T	c.(1324-1326)Ggt>Tgt	p.G442C	USP29_ENST00000598197.1_Missense_Mutation_p.G442C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	442	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAAGCTTGTGGTCATGCTGT	0.393																																					p.G442C													USP29,NS,carcinoma,0,1	USP29	186	1	0			c.G1324T												167	157	161					19																	57641367		2203	4300	6503	SO:0001583	missense	0	exon4			GCTTGTGGTCATG		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1324G>T	19.37:g.57641367G>T	ENSP00000254181:p.Gly442Cys		107	0	0		87	0.03	3	NM_020903	1	0	0		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640150	0.29157	.	.	ENSG00000131864	ENST00000254181	T	0.77229	-1.08	2.69	0.399	0.16325	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.294810	0.18758	U	0.131987	D	0.84866	0.5567	M	0.83483	2.645	0.23906	N	0.996504	D	0.89917	1.0	D	0.97110	1.0	T	0.73122	-0.4082	10	0.87932	D	0	-11.5852	4.6279	0.12488	0.3377:0.0:0.6623:0.0	.	442	Q9HBJ7	UBP29_HUMAN	C	442	ENSP00000254181:G442C	ENSP00000254181:G442C	G	+	1	0	USP29	62333179	1.000000	0.71417	0.626000	0.29213	0.354000	0.29330	3.695000	0.54749	0.140000	0.18849	0.591000	0.81541	GGT			0.393	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465075.1				T	57641367	G	T	57641367	3	4	122	1	0	0	0	0	1	0	0	0	17083	1348	47	3	1326	3	USP29	19	57641367	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	9005018	57641367	1487616	59	9140											
OGFR	11054	mdanderson.org	37	chr20	61444930	61444930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctacaagggatgagccaGccaaggcgggggaggcagca	12	2	17	10	1	0	1	0	1	0	0	0	4	0	3	3	5	4	2	3	5	3	1			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr20:61444930G>T	ENST00000290291.6	+	7	1988	c.1963G>T	c.(1963-1965)Gcc>Tcc	p.A655S	OGFR_ENST00000370461.1_Missense_Mutation_p.A603S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	655	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)					GGATGAGCCAGCCAAGGCGGG	0.682																																					p.A655S													.	.			0			c.G1963T												38	42	41					20																	61444930		2196	4296	6492	SO:0001583	missense	11054	exon7			GAGCCAGCCAAGG	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.1963G>T	20.37:g.61444930G>T	ENSP00000290291:p.Ala655Ser		70	0	0		43	0.07	3	NM_007346	229	0	0	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027475	0.35797	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.54479	0.57;0.57	0.753	-0.567	0.11763	.	.	.	.	.	T	0.34513	0.0900	N	0.14661	0.345	0.09310	N	1	D;D;D	0.53462	0.96;0.96;0.96	P;P;P	0.46685	0.524;0.524;0.524	T	0.26467	-1.0102	9	0.23302	T	0.38	.	7.6255	0.28210	0.0:0.2679:0.7321:0.0	.	655;638;655	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	S	655;635;490;603	ENSP00000290291:A655S;ENSP00000359491:A603S	ENSP00000290291:A655S	A	+	1	0	OGFR	60915375	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.589000	0.00900	-0.202000	0.10268	0.511000	0.50034	GCC			0.682	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080067.1				T	61444930	G	T	61444930	3	4	122	1	0	0	0	0	1	0	0	0	10860	971	34	2	1989	2	OGFR	20	61444930	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		61444930	1580590	60	9141											
OLIG2	10215	mdanderson.org	37	chr21	34399701	34399701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgactggtgagcgagatctaCgggggccaccacgctggctt	7	7	15	12	4	1	2	0	1	1	1	1	4	1	2	2	4	2	2	2	4	1	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr21:34399701C>T	ENST00000333337.3	+	1	1459	c.531C>T	c.(529-531)taC>taT	p.Y177Y	AP000282.2_ENST00000454622.1_RNA|OLIG2_ENST00000382357.3_Silent_p.Y177Y|AP000282.2_ENST00000420356.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	177					myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						GCGAGATCTACGGGGGCCACC	0.697			T	TRA@	T-ALL																																p.Y177Y				Dom	yes		21	21q22.11	10215	oligodendrocyte lineage transcription factor 2 (BHLHB1)		L	.	.			0			c.C531T												12	10	11					21																	34399701		2129	4165	6294	SO:0001819	synonymous_variant	10215	exon2			GATCTACGGGGGC	U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"Basic helix-loop-helix proteins"	9398	protein-coding gene	gene with protein product	"oligodendrocyte-specific bHLH transcription factor 2", "protein kinase C binding protein 2", "human protein kinase C-binding protein RACK17", "basic domain, helix-loop-helix protein, class B, 1"	606386	"protein kinase C binding protein 2"	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.531C>T	21.37:g.34399701C>T			35	0	0		39	0.08	3	NM_005806	0		0	B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Silent	SNP	ENST00000333337.3	37	CCDS13620.1																																																																																					0.697	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000139663.1		NM_005806		T	34399701	C	T	34399701	2	4	122	1	0	0	0	0	0	0	0	1	10878	547	19	1		1	OLIG2	21	34399701	Silent	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10		34399701	13730194	61	9142											
KCNJ6	3763	bcgsc.ca	37	chr21	39087331	39087331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtccgatctcggctgatGtgtcttggcaggtcatccct	4	14	12	11	2	3	1	1	1	2	0	6	2	5	1	2	4	0	2	2	4	0	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chr21:39087331G>T	ENST00000609713.1	-	3	718	c.129C>A	c.(127-129)caC>caA	p.H43Q	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.H43Q	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	43					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTCGGCTGATGTGTCTTGGCA	0.552																																					p.H43Q	Pancreas(48;379 1118 2936 19024 28214)												.	KCNJ6	58		0			c.C129A												173	162	166					21																	39087331		2018	4183	6201	SO:0001583	missense	3763	exon3			GCTGATGTGTCTT	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.129C>A	21.37:g.39087331G>T	ENSP00000477437:p.His43Gln		196	0	0		128	0.05	6	NM_002240	0		0	Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	G	2.605	-0.292048	0.05568	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.87491	-2.26;-2.26	5.8	4.92	0.64577	.	0.239335	0.43110	D	0.000617	T	0.72946	0.3524	N	0.14661	0.345	0.32583	N	0.528195	B	0.02656	0.0	B	0.01281	0.0	T	0.68258	-0.5456	10	0.18710	T	0.47	.	6.9344	0.24459	0.1939:0.1347:0.6714:0.0	.	43	P48051	IRK6_HUMAN	Q	43	ENSP00000383330:H43Q;ENSP00000288309:H43Q	ENSP00000288309:H43Q	H	-	3	2	KCNJ6	38009201	1.000000	0.71417	0.997000	0.53966	0.735000	0.41995	1.651000	0.37302	1.452000	0.47756	0.655000	0.94253	CAC			0.552	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194828.2		NM_002240		T	39087331	G	T	39087331	3	4	122	1	0	0	0	0	1	0	0	0	8070	1368	48	3	1150	3	KCNJ6	21	39087331	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	4687630	39087331	9042564	62	9143											
CXorf38	159013	mdanderson.org	37	chrX	40489933	40489933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtttttgatgtagacagagGctgtctagcttctgcatatc	9	15	10	7	0	2	3	0	1	2	2	3	3	2	3	0	1	2	5	0	1	3	6			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chrX:40489933G>T	ENST00000327877.5	-	6	920	c.894C>A	c.(892-894)agC>agA	p.S298R	CXorf38_ENST00000378426.1_Missense_Mutation_p.S179R|CXorf38_ENST00000440784.2_Missense_Mutation_p.S213R|CXorf38_ENST00000378421.1_Missense_Mutation_p.S179R	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	298										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GTAGACAGAGGCTGTCTAGCT	0.453																																					p.S298R													.	.			0			c.C894A												201	147	165					X																	40489933		2203	4300	6503	SO:0001583	missense	159013	exon6			ACAGAGGCTGTCT	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.894C>A	X.37:g.40489933G>T	ENSP00000330488:p.Ser298Arg		63	0	0		48	0.06	3	NM_144970	44	0	0	B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	g	14.06	2.422369	0.43020	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.65	3.87	0.44632	.	0.482880	0.22879	N	0.054537	T	0.32041	0.0816	L	0.51422	1.61	0.09310	N	1	B;B	0.27882	0.192;0.077	B;B	0.23018	0.043;0.025	T	0.24835	-1.0149	10	0.46703	T	0.11	-15.7117	5.1633	0.15073	0.181:0.0:0.6553:0.1638	.	213;298	E7EN46;Q8TB03	.;CX038_HUMAN	R	179;298;179;213	ENSP00000367683:S179R;ENSP00000330488:S298R;ENSP00000367677:S179R;ENSP00000400019:S213R	ENSP00000330488:S298R	S	-	3	2	CXorf38	40374877	0.224000	0.23674	0.812000	0.32479	0.737000	0.42083	0.306000	0.19279	1.165000	0.42670	0.597000	0.82753	AGC			0.453	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060685.3		NM_144970		T	40489933	G	T	40489933	3	4	122	1	0	0	0	0	1	0	0	0	4109	1194	42	2	69	2	CXorf38	23	40489933	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		40489933	114780627	63	9144											
OGT	8473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	70793562	70793562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggaactagagcggctctAtctacagatgtgggagcatt	12	10	12	7	1	2	2	0	0	2	2	2	4	2	4	0	3	4	2	0	3	5	4			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chrX:70793562A>G	ENST00000373719.3	+	22	3276	c.3059A>G	c.(3058-3060)tAt>tGt	p.Y1020C	OGT_ENST00000373701.3_Missense_Mutation_p.Y1010C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1020					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAGCGGCTCTATCTACAGATG	0.448																																					p.Y1020C													.	.			0			c.A3059G												114	90	98					X																	70793562		2203	4300	6503	SO:0001583	missense	8473	exon22			GGCTCTATCTACA	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.3059A>G	X.37:g.70793562A>G	ENSP00000362824:p.Tyr1020Cys		85	0	0		69	0.19	13	NM_181672	351	0.28	100	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117186	0.56505	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.79554	-1.28;-1.28	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.91157	0.7215	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75484	0.914;0.951;0.986	D	0.93052	0.6466	10	0.87932	D	0	0.1206	13.7944	0.63162	1.0:0.0:0.0:0.0	.	894;1010;1020	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	C	1020;1010	ENSP00000362824:Y1020C;ENSP00000362805:Y1010C	ENSP00000362805:Y1010C	Y	+	2	0	OGT	70710287	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.999000	0.93557	1.900000	0.55004	0.486000	0.48141	TAT			0.448	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000081829.3		NM_003605, NM_181672		G	70793562	A	G	70793562	3	3	122	1	0	0	0	0	1	0	0	0	10864	449	16	4	3145	4	OGT	23	70793562	Missense_Mutation	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10	30303629	70793562	84476998	64	9145											
GPRASP2	114928	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chrX	101971349	101971349	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcccctttggaattcccGaagaggcttctgaaatgctt	10	11	9	11	1	1	2	0	1	1	1	2	4	2	3	3	2	2	2	3	2	4	4			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chrX:101971349G>T	ENST00000535209.1	+	4	2383	c.1552G>T	c.(1552-1554)Gaa>Taa	p.E518*	GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E518*|GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.E518*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	518						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGGAATTCCCGAAGAGGCTTC	0.517																																					p.E518X													.	.			0			c.G1552T												63	62	63					X																	101971349		2203	4299	6502	SO:0001587	stop_gained	114928	exon4			ATTCCCGAAGAGG	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1552G>T	X.37:g.101971349G>T	ENSP00000437394:p.Glu518*		105	0	0		88	0.05	4	NM_138437	16	0	0	D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	37	6.274068	0.97431	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.23	3.37	0.38596	.	0.487167	0.17632	N	0.167358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	7.0736	0.25191	0.1227:0.0:0.8773:0.0	.	.	.	.	X	518	.	ENSP00000339057:E518X	E	+	1	0	GPRASP2	101858005	0.996000	0.38824	0.304000	0.25085	0.002000	0.02628	1.847000	0.39299	1.149000	0.42402	-0.191000	0.12829	GAA			0.517	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057626.2		NM_138437		T	101971349	G	T	101971349	4	4	122	1	0	0	0	0	0	1	0	0	6738	1059	37	1	1554	1	GPRASP2	23	101971349	Nonsense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	31177787	101971349	53299211	65	9146											
SLC25A5	292	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	118602491	118602491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaacatgacagatgccGctgtgtccttcgccaaggac	9	10	9	13	2	1	2	1	1	0	1	3	3	2	3	3	1	2	1	3	1	2	2			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chrX:118602491G>A	ENST00000317881.8	+	1	129	c.13G>A	c.(13-15)Gct>Act	p.A5T	SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	5					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GACAGATGCCGCTGTGTCCTT	0.647																																					p.A5T													.	.			0			c.G13A												23	21	22					X																	118602491		2201	4300	6501	SO:0001583	missense	292	exon1			GATGCCGCTGTGT	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.13G>A	X.37:g.118602491G>A	ENSP00000360671:p.Ala5Thr		176	0	0		168	0.15	26	NM_001152	559	0.39	220	B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608118	0.46527	.	.	ENSG00000005022	ENST00000317881	T	0.78364	-1.17	3.15	2.29	0.28610	Mitochondrial carrier domain (1);	0.121726	0.53938	N	0.000042	T	0.65575	0.2704	L	0.37697	1.125	0.58432	D	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.59595	-0.7425	10	0.41790	T	0.15	.	9.3982	0.38415	0.1139:0.0:0.8861:0.0	.	5	P05141	ADT2_HUMAN	T	5	ENSP00000360671:A5T	ENSP00000360671:A5T	A	+	1	0	SLC25A5	118486519	1.000000	0.71417	0.998000	0.56505	0.680000	0.39746	3.707000	0.54838	0.725000	0.32318	0.538000	0.68166	GCT			0.647	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058952.2		NM_001152		A	118602491	G	A	118602491	3	1	122	1	0	0	0	0	1	0	0	0	14535	1087	38	1	15	1	SLC25A5	23	118602491	Missense_Mutation	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	16631142	118602491	36668069	66	9147											
GLUD2	2747	mdanderson.org	37	chrX	120182071	120182071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcagtggttgatgtgcCgtttgggggtgctaaagctg	5	13	18	5	1	0	1	0	1	0	0	0	1	0	1	1	3	4	5	1	3	2	3			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chrX:120182071C>A	ENST00000328078.1	+	1	610	c.533C>A	c.(532-534)cCg>cAg	p.P178Q		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	178					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GTTGATGTGCCGTTTGGGGGT	0.453																																					p.P178Q													.	.			0			c.C533A												118	91	100					X																	120182071		2203	4300	6503	SO:0001583	missense	2747	exon1			ATGTGCCGTTTGG	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.533C>A	X.37:g.120182071C>A	ENSP00000327589:p.Pro178Gln		46	0	0		55	0.05	3	NM_012084	89	0	0	B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	7.579	0.668349	0.14776	.	.	ENSG00000182890	ENST00000328078	D	0.97620	-4.46	1.62	0.69	0.18039	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.98563	0.9520	H	0.97315	3.98	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.96424	0.9314	10	0.87932	D	0	.	4.7803	0.13199	0.3626:0.6374:0.0:0.0	.	178	P49448	DHE4_HUMAN	Q	178	ENSP00000327589:P178Q	ENSP00000327589:P178Q	P	+	2	0	GLUD2	120009752	0.986000	0.35501	0.370000	0.25965	0.080000	0.17528	1.818000	0.39012	0.175000	0.19841	0.472000	0.43445	CCG			0.453	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058133.1		NM_012084		A	120182071	C	A	120182071	3	1	122	1	0	0	0	0	1	0	0	0	6491	652	23	1	535	1	GLUD2	23	120182071	Missense_Mutation	SNP	C	TCGA-XE-AAOD-01A-11D-A435-10	1579580	120182071	35088489	67	9148											
THOC2	57187	mdanderson.org	37	chrX	122747911	122747911	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattttacaaacccttttccGctctttcctgtccttttcat	7	19	2	13	1	2	0	1	0	1	0	5	0	5	0	4	0	2	1	4	0	3	7			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chrX:122747911G>T	ENST00000245838.8	-	34	4472	c.4441C>A	c.(4441-4443)Cgg>Agg	p.R1481R	THOC2_ENST00000355725.4_Silent_p.R1481R|THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000491737.1_Silent_p.R1366R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1481	Lys-rich.				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						ACCCTTTTCCGCTCTTTCCTG	0.353																																					p.R1481R													.	.			0			c.C4441A												112	101	105					X																	122747911		1815	4067	5882	SO:0001819	synonymous_variant	57187	exon34			TTTTCCGCTCTTT	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.4441C>A	X.37:g.122747911G>T			25	0	0		17	0.12	2	NM_001081550	151	0	0	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	6.790	0.514841	0.12944	.	.	ENSG00000125676	ENST00000448128;ENST00000441692	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	T	0.71160	0.3307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69544	-0.5117	4	.	.	.	-6.3811	14.3577	0.66748	0.0:0.0:0.8523:0.1477	.	.	.	.	R	76;275	.	.	S	-	3	2	THOC2	122575592	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	4.817000	0.62650	2.562000	0.86427	0.600000	0.82982	AGC			0.353	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058153.3				T	122747911	G	T	122747911	2	4	122	1	0	0	0	0	0	0	0	1	15888	1086	38	1		1	THOC2	23	122747911	Silent	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10	2565840	122747911	32522649	68	9149											
XPNPEP2	7512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	128886308	128886308	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatgtatgggatctatgAaatgatacccaaggtgggtt	12	12	11	6	0	1	2	0	2	1	0	1	3	1	3	2	3	2	2	2	3	6	5			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chrX:128886308A>G	ENST00000371106.3	+	10	1196	c.1004A>G	c.(1003-1005)gAa>gGa	p.E335G		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	335						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGGATCTATGAAATGATACCC	0.522																																					p.E335G													.	.			0			c.A1004G												112	93	99					X																	128886308		2203	4299	6502	SO:0001583	missense	7512	exon10			TCTATGAAATGAT	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1004A>G	X.37:g.128886308A>G	ENSP00000360147:p.Glu335Gly		112	0	0		113	0.19	21	NM_003399	0		0	A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938362	0.34189	.	.	ENSG00000122121	ENST00000371106	T	0.74842	-0.88	5.89	4.76	0.60689	.	0.236305	0.49916	D	0.000139	T	0.61261	0.2333	L	0.41710	1.295	0.40841	D	0.983674	B	0.14012	0.009	B	0.09377	0.004	T	0.59606	-0.7423	10	0.39692	T	0.17	-16.9827	5.5432	0.17049	0.7944:0.0:0.2056:0.0	.	335	O43895	XPP2_HUMAN	G	335	ENSP00000360147:E335G	ENSP00000360147:E335G	E	+	2	0	XPNPEP2	128713989	1.000000	0.71417	0.996000	0.52242	0.716000	0.41182	3.392000	0.52537	1.995000	0.58328	0.430000	0.28490	GAA			0.522	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058210.1		NM_003399		G	128886308	A	G	128886308	3	3	122	1	0	0	0	0	1	0	0	0	17467	246	9	4	1042	4	XPNPEP2	23	128886308	Missense_Mutation	SNP	A	TCGA-XE-AAOD-01A-11D-A435-10	6138397	128886308	26384252	69	9150											
NLGN4Y	22829	mdanderson.org	37	chrY	16953087	16953087	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacttttaaaaccttcaGtggaggacaaaacagtacaa	18	8	6	9	0	1	0	1	0	0	0	1	2	1	2	1	2	3	1	1	2	6	4			TCGA-XE-AAOD-01A-11D-A435-10	TCGA-XE-AAOD-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2a0bdd28-8993-44f4-a117-65ff51ff02c6	dc69fa13-f07c-4903-a807-b0a0e9d277ad	g.chrY:16953087G>T	ENST00000476359.1	+	0	2941							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						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						AAAACCTTCAGTGGAGGACAA	0.478																																					p.S799I													.	.			0			c.G2396T																																									SO:0001624	3_prime_UTR_variant	22829	exon6			CCTTCAGTGGAGG		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	ENST00000476359.1:c.*2938G>T	Y.37:g.16953087G>T			106	0	0		46	0.07	3	NM_014893	1	0	0	F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000476359.1	37																																																																																						0.478	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding		OTTHUMT00000089064.2		NM_014893		T	16953087	G	T	16953087	1	4	122	0	1	0	0	0	0	0	0	0	10482	1029	36	3		3	NLGN4Y	24	16953087	3'UTR	SNP	G	TCGA-XE-AAOD-01A-11D-A435-10		16953087	42420479	70	9151											
KIAA0562	9731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	3740039	3740039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctcttccttgaaaacagCctcactgcaacggtaacact	12	9	6	14	1	2	1	1	1	1	0	3	1	3	1	2	1	6	3	2	1	4	3			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:3740039C>T	ENST00000378230.3	-	19	2776	c.2452G>A	c.(2452-2454)Gct>Act	p.A818T		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	818						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTGAAAACAGCCTCACTGCAA	0.532																																					p.A818T													CEP104,NS,carcinoma,+1,1	CEP104	1	1	0			c.G2452A												192	166	174					1																	3740039		2203	4300	6503	SO:0001583	missense	9731	exon19			AAACAGCCTCACT	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2452G>A	1.37:g.3740039C>T	ENSP00000367476:p.Ala818Thr		126	0.0079365079	1		100	0.12	12	NM_014704	21	0.19	4	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788094	0.96945	.	.	ENSG00000116198	ENST00000378230	T	0.43688	0.94	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73751	-0.3884	10	0.52906	T	0.07	.	18.7848	0.91949	0.0:1.0:0.0:0.0	.	818	O60308	CE104_HUMAN	T	818	ENSP00000367476:A818T	ENSP00000367476:A818T	A	-	1	0	CEP104	3729899	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.045000	0.76585	2.670000	0.90874	0.655000	0.94253	GCT			0.532	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009747.3		NM_014704		T	3740039	C	T	3740039	3	4	123	1	0	0	0	0	1	0	0	0	8199	739	26	2	341	2	KIAA0562	1	3740039	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10		3740039	245510582	1	9152											
CROCC	9696	broad.mit.edu;mdanderson.org	37	chr1	17250898	17250898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagcaggagctgtcccGcgtggaggacctgctggccc	5	6	16	14	2	0	0	0	0	0	0	1	3	1	3	3	4	4	5	3	4	0	0	rs146983726		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:17250898G>T	ENST00000375541.5	+	3	344	c.275G>T	c.(274-276)cGc>cTc	p.R92L	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGCTGTCCCGCGTGGAGGAC	0.662																																					p.R92L													CROCC,NS,carcinoma,+1,1	CROCC	185	1	0			c.G275T												42	34	37					1																	17250898		2203	4300	6503	SO:0001583	missense	9696	exon3			TGTCCCGCGTGGA	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.275G>T	1.37:g.17250898G>T	ENSP00000364691:p.Arg92Leu		60	0	0		74	0.05	4	NM_014675	5	0	0		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171469	0.78452	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.26223	1.75	4.88	4.88	0.63580	.	.	.	.	.	T	0.50463	0.1617	M	0.72118	2.19	0.45378	D	0.998367	D	0.89917	1.0	D	0.87578	0.998	T	0.53844	-0.8381	9	0.87932	D	0	.	15.1328	0.72539	0.0:0.0:1.0:0.0	.	92	Q5TZA2	CROCC_HUMAN	L	92;63	ENSP00000364691:R92L	ENSP00000364691:R92L	R	+	2	0	CROCC	17123485	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	8.681000	0.91228	2.423000	0.82170	0.591000	0.81541	CGC			0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006249.2		NM_014675		T	17250898	G	T	17250898	3	4	123	1	0	0	0	0	1	0	0	0	3895	1087	38	1	285	1	CROCC	1	17250898	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	13510859	17250898	231999723	2	9153											
C1QC	714	mdanderson.org	37	chr1	22973860	22973860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatgggcatccctggagagCcaggtgaggagggcagatac	10	5	16	10	0	0	3	0	1	0	2	1	5	1	4	3	5	2	2	3	5	1	1	rs139780188		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:22973860C>T	ENST00000374639.3	+	3	440	c.322C>T	c.(322-324)Cca>Tca	p.P108S	C1QC_ENST00000374640.4_Missense_Mutation_p.P108S|C1QC_ENST00000374637.1_Missense_Mutation_p.P108S	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	108	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		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;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	CCCTGGAGAGCCAGGTGAGGA	0.622																																					p.P108S	Ovarian(26;671 750 8290 29071 43278)												.	.			0			c.C322T							C	SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	58	62	60		322,322	4.9	1	1	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense	C1QC	NM_001114101.1,NM_172369.3	74,74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	108/246,108/246	22973860	1,13005	2203	4300	6503	SO:0001583	missense	714	exon3			GGAGAGCCAGGTG	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.322C>T	1.37:g.22973860C>T	ENSP00000363770:p.Pro108Ser		77	0	0		40	0.08	3	NM_001114101	740	0	0	Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161745	0.38119	2.27E-4	0.0	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	D;D;D	0.96802	-4.13;-4.13;-4.13	4.94	4.94	0.65067	.	0.329446	0.31834	N	0.006988	D	0.96062	0.8717	M	0.73598	2.24	0.09310	N	1	D	0.55172	0.97	P	0.48425	0.577	D	0.91866	0.5503	10	0.42905	T	0.14	.	12.7121	0.57096	0.1653:0.8347:0.0:0.0	.	108	P02747	C1QC_HUMAN	S	108	ENSP00000363771:P108S;ENSP00000363770:P108S;ENSP00000363768:P108S	ENSP00000363768:P108S	P	+	1	0	C1QC	22846447	0.195000	0.23338	0.994000	0.49952	0.757000	0.42996	1.938000	0.40203	2.280000	0.76307	0.561000	0.74099	CCA	0		0.622	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008083.1		NM_172369		T	22973860	C	T	22973860	3	4	123	1	0	0	0	0	1	0	0	0	1959	739	26	2	328	2	C1QC	1	22973860	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	5722962	22973860	226276761	3	9154											
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	39818746	39818746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctggattgggtaacttCagtaggatcatctggtggac	8	13	12	8	0	4	0	2	0	2	0	5	3	4	3	1	5	1	2	1	5	2	4			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:39818746C>T	ENST00000372915.3	+	43	11369	c.11282C>T	c.(11281-11283)tCa>tTa	p.S3761L	MACF1_ENST00000567887.1_Missense_Mutation_p.S3793L|MACF1_ENST00000564288.1_Missense_Mutation_p.S3756L|MACF1_ENST00000539005.1_Missense_Mutation_p.S1694L|MACF1_ENST00000317713.7_Missense_Mutation_p.S1694L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.S1694L|MACF1_ENST00000361689.2_Missense_Mutation_p.S1694L|MACF1_ENST00000289893.4_Missense_Mutation_p.S2196L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3761					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)			TGGGTAACTTCAGTAGGATCA	0.517																																					p.S1694L													.	.			0			c.C5081T												101	89	93					1																	39818746		2203	4300	6503	SO:0001583	missense	23499	exon40			TAACTTCAGTAGG	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.11282C>T	1.37:g.39818746C>T	ENSP00000362006:p.Ser3761Leu		98	0	0		84	0.11	9	NM_012090	6	0.17	1	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	13.03	2.115332	0.37339	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T;T;T;T;T;D;T	0.87571	-0.01;0.01;-0.01;-0.04;0.16;-2.27;1.11	5.53	4.61	0.57282	.	0.577168	0.15708	N	0.248548	D	0.85274	0.5659	L	0.57536	1.79	0.58432	D	0.999998	B;B;B;B	0.11235	0.0;0.001;0.004;0.003	B;B;B;B	0.14578	0.004;0.007;0.011;0.005	T	0.80460	-0.1373	10	0.37606	T	0.19	.	14.8722	0.70465	0.0:0.7279:0.2721:0.0	.	3761;1694;1694;1659	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	L	1694;3761;1694;1694;1694;1843;2196	ENSP00000439537:S1694L;ENSP00000362006:S3761L;ENSP00000354573:S1694L;ENSP00000313438:S1694L;ENSP00000444364:S1694L;ENSP00000437059:S1843L;ENSP00000289893:S2196L	ENSP00000289893:S2196L	S	+	2	0	MACF1	39591333	0.973000	0.33851	0.934000	0.37439	0.605000	0.37080	2.477000	0.45180	1.313000	0.45069	0.555000	0.69702	TCA			0.517	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding		OTTHUMT00000392096.1		NM_033044		T	39818746	C	T	39818746	3	4	123	1	0	0	0	0	1	0	0	0	9160	838	29	3	11386	3	MACF1	1	39818746	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	16844886	39818746	209431875	4	9155											
ZMPSTE24	10269	mdanderson.org	37	chr1	40747141	40747141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacatccaggaggattctgGcatggaaccccgcaatgagg	12	6	13	10	1	1	2	0	1	1	1	2	5	2	5	3	5	1	2	3	5	2	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:40747141G>T	ENST00000372759.3	+	7	1061	c.896G>T	c.(895-897)gGc>gTc	p.G299V		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	299					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	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;6.3e-18)			GAGGATTCTGGCATGGAACCC	0.358																																					p.G299V													.	.			0			c.G896T												82	84	84					1																	40747141		2203	4300	6503	SO:0001583	missense	10269	exon7			ATTCTGGCATGGA	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.896G>T	1.37:g.40747141G>T	ENSP00000361845:p.Gly299Val		133	0	0		119	0.04	5	NM_005857	26	0	0	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	CCDS449.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234768	0.39498	.	.	ENSG00000084073	ENST00000372759	D	0.82526	-1.62	5.65	4.69	0.59074	.	0.272209	0.29822	N	0.011108	T	0.74906	0.3778	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.69881	-0.5025	10	0.38643	T	0.18	-16.7316	15.4572	0.75325	0.0:0.1514:0.8486:0.0	.	299	O75844	FACE1_HUMAN	V	299	ENSP00000361845:G299V	ENSP00000361845:G299V	G	+	2	0	ZMPSTE24	40519728	0.944000	0.32072	1.000000	0.80357	0.980000	0.70556	1.672000	0.37523	2.655000	0.90218	0.655000	0.94253	GGC			0.358	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000015766.1				T	40747141	G	T	40747141	3	4	123	1	0	0	0	0	1	0	0	0	17721	1203	42	2	922	2	ZMPSTE24	1	40747141	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	928395	40747141	208503480	5	9156											
CYP2J2	1573	mdanderson.org	37	chr1	60370571	60370571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggtacccagccaaagtgGtatcaactgtcacttccctg	9	10	10	12	0	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	4	3			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:60370571G>T	ENST00000371204.3	-	7	1206	c.1163C>A	c.(1162-1164)aCc>aAc	p.T388N	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	388					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	AGCCAAAGTGGTATCAACTGT	0.498																																					p.T388N													.	.			0			c.C1163A												132	103	112					1																	60370571		2203	4300	6503	SO:0001583	missense	1573	exon7			AAAGTGGTATCAA	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1163C>A	1.37:g.60370571G>T	ENSP00000360247:p.Thr388Asn		61	0	0		38	0.08	3	NM_000775	3	0	0	B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425985	0.43020	.	.	ENSG00000134716	ENST00000371204	T	0.70164	-0.46	5.95	4.08	0.47627	.	0.209202	0.49916	D	0.000127	D	0.87346	0.6154	H	0.98901	4.365	0.36380	D	0.861861	P	0.36125	0.538	P	0.59171	0.853	D	0.89781	0.3961	10	0.87932	D	0	.	7.0954	0.25307	0.1443:0.1492:0.7065:0.0	.	388	P51589	CP2J2_HUMAN	N	388	ENSP00000360247:T388N	ENSP00000360247:T388N	T	-	2	0	CYP2J2	60143159	1.000000	0.71417	0.587000	0.28692	0.034000	0.12701	3.569000	0.53827	1.528000	0.49103	-0.150000	0.13652	ACC			0.498	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000024940.1		NM_000775		T	60370571	G	T	60370571	3	4	123	1	0	0	0	0	1	0	0	0	4174	1261	44	3	357	3	CYP2J2	1	60370571	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	19623430	60370571	188880050	6	9157											
NRAS	4893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	7	15	8	11	0	2	0	0	0	2	0	4	0	4	0	2	1	2	5	2	1	3	5	rs121913254		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	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)																											p.Q61K				Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	NRAS,NS,haematopoietic_neoplasm,0,2068	NRAS	0	2068	610	Substitution - Missense(609)|Complex(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)	c.C181A												180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	CTTCTTGTCCAGC	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		85	0	0		102	0.17	17	NM_002524	18	0.22	4	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	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		T	115256530	G	T	115256530	3	4	123	1	0	0	0	0	1	0	0	0	10657	1386	48	3	400	3	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	54885959	115256530	133994091	7	9158											
TCHH	7062	broad.mit.edu	37	chr1	152082220	152082220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctctcagcagctgc	2	13	8	18	2	4	0	1	0	3	0	8	0	5	0	4	2	3	3	4	2	0	3	rs113946258	byFrequency	TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:152082220G>T	ENST00000368804.1	-	2	3472	c.3473C>A	c.(3472-3474)cCg>cAg	p.P1158Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592																																					p.P1158Q													.	TCHH	275		0			c.C3473A												71	70	70					1																	152082220		1986	4171	6157	SO:0001583	missense	7062	exon3			TTCTCCGGTTCCT	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3473C>A	1.37:g.152082220G>T	ENSP00000357794:p.Pro1158Gln		80	0	0		92	0.03	3	NM_007113	1	0	0	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	2.075	-0.412056	0.04799	.	.	ENSG00000159450	ENST00000368804	T	0.05025	3.51	1.86	-3.72	0.04411	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.47674	-0.9099	9	0.13470	T	0.59	.	1.558	0.02589	0.2814:0.2588:0.3346:0.1252	.	1158	Q07283	TRHY_HUMAN	Q	1158	ENSP00000357794:P1158Q	ENSP00000357794:P1158Q	P	-	2	0	TCHH	150348844	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-6.257000	0.00073	-1.230000	0.02561	-1.439000	0.01073	CCG			0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036671.2		NM_007113		T	152082220	G	T	152082220	3	4	123	1	0	0	0	0	1	0	0	0	15723	1116	39	1	2362	1	TCHH	1	152082220	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	36825690	152082220	97168401	8	9159											
FLG	2312	mdanderson.org	37	chr1	152276368	152276368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgtccctcactgtcaCtggcctgactaccactggac	8	10	8	15	0	2	2	2	2	0	0	3	3	3	3	3	2	1	0	3	2	2	1	rs201216189		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:152276368C>G	ENST00000368799.1	-	3	11029	c.10994G>C	c.(10993-10995)aGt>aCt	p.S3665T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3665	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)			CTCACTGTCACTGGCCTGACT	0.587									Ichthyosis																												p.S3665T													FLG,NS,carcinoma,0,1	FLG	0	1	0			c.G10994C												34	36	36					1																	152276368		2201	4268	6469	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGTCACTGGCCT	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.10994G>C	1.37:g.152276368C>G	ENSP00000357789:p.Ser3665Thr		92	0	0		119	0.03	4	NM_002016	7	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369374	0.24771	.	.	ENSG00000143631	ENST00000368799	T	0.08008	3.14	4.62	1.67	0.24075	.	.	.	.	.	T	0.04724	0.0128	M	0.69823	2.125	0.09310	N	1	B	0.31383	0.321	B	0.42112	0.376	T	0.45731	-0.9241	9	0.15499	T	0.54	.	6.3601	0.21422	0.0:0.5359:0.3655:0.0986	.	3665	P20930	FILA_HUMAN	T	3665	ENSP00000357789:S3665T	ENSP00000357789:S3665T	S	-	2	0	FLG	150542992	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.297000	0.08276	0.647000	0.30713	0.552000	0.68991	AGT			0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033742.1		NM_002016		G	152276368	C	G	152276368	3	3	123	1	0	0	0	0	1	0	0	0	5935	565	20	5	1195	5	FLG	1	152276368	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	194148	152276368	96974253	9	9160			1	17		2	2	19	N	G_C	4.1864e-05
FLG	2312	mdanderson.org	37	chr1	152276386	152276386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactggcctgactaccactgGaccctcggtgtccactgtct	6	10	9	16	1	1	1	0	1	1	0	3	2	2	2	4	3	1	0	4	3	1	1	rs199655799		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:152276386G>T	ENST00000368799.1	-	3	11011	c.10976C>A	c.(10975-10977)tCc>tAc	p.S3659Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3659	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)			ACTACCACTGGACCCTCGGTG	0.587									Ichthyosis																												p.S3659Y													FLG,NS,carcinoma,-1,1	FLG	-1	1	0			c.C10976A												34	37	36					1																	152276386		2198	4265	6463	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCACTGGACCCTC	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.10976C>A	1.37:g.152276386G>T	ENSP00000357789:p.Ser3659Tyr		85	0	0		106	0.04	4	NM_002016	11	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490828	0.26774	.	.	ENSG00000143631	ENST00000368799	T	0.09073	3.02	4.47	2.48	0.30137	.	.	.	.	.	T	0.02455	0.0075	M	0.64997	1.995	0.09310	N	1	B	0.27416	0.178	B	0.35039	0.194	T	0.48703	-0.9012	9	0.02654	T	1	.	5.7821	0.18312	0.1012:0.0:0.7095:0.1893	.	3659	P20930	FILA_HUMAN	Y	3659	ENSP00000357789:S3659Y	ENSP00000357789:S3659Y	S	-	2	0	FLG	150543010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.583000	0.23849	0.561000	0.29186	0.552000	0.68991	TCC			0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033742.1		NM_002016		T	152276386	G	T	152276386	3	4	123	1	0	0	0	0	1	0	0	0	5935	1174	41	3	1213	3	FLG	1	152276386	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	18	152276386	96974235	10	9161			1	17		2	2	19	N	G_C	4.1864e-05
CR1	1378	mdanderson.org	37	chr1	207782931	207782931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttaccctcactgagatcAtcagatttagatgtcagccc	10	13	6	12	0	5	3	4	1	1	3	5	4	5	3	2	0	2	0	2	0	2	4	rs6691117	byFrequency	TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:207782931A>T	ENST00000367049.4	+	37	6193	c.6193A>T	c.(6193-6195)Atc>Ttc	p.I2065F	CR1_ENST00000367051.1_Missense_Mutation_p.I1615F|CR1_ENST00000367052.1_Missense_Mutation_p.I1615F|CR1_ENST00000367053.1_Missense_Mutation_p.I1615F|CR1_ENST00000400960.2_Missense_Mutation_p.I1615F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1615					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTGAGATCATCAGATTTAG	0.498																																					p.I2065F													.	.			0			c.A6193T												36	37	37					1																	207782931		1925	4129	6054	SO:0001583	missense	1378	exon37			GAGATCATCAGAT	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6193A>T	1.37:g.207782931A>T	ENSP00000356016:p.Ile2065Phe		103	0	0		112	0.03	3	NM_000651	8	0	0	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574787	0.28092	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	2.54	2.54	0.30619	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.68595	0.3018	M	0.73217	2.22	0.80722	P	0.0	B;B;P	0.46277	0.003;0.025;0.875	B;B;P	0.49387	0.01;0.022;0.609	T	0.73433	-0.3984	8	0.87932	D	0	.	5.5311	0.16985	0.1589:0.0:0.8411:0.0	.	1615;1615;2065	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	F	1615;1615;1615;1615;2065	ENSP00000356019:I1615F;ENSP00000356018:I1615F;ENSP00000356020:I1615F;ENSP00000383744:I1615F;ENSP00000356016:I2065F	ENSP00000356016:I2065F	I	+	1	0	CR1	205849554	0.801000	0.28930	0.004000	0.12327	0.078000	0.17371	2.671000	0.46842	0.637000	0.30526	-0.355000	0.07637	ATC			0.498	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382527.1		NM_000573		T	207782931	A	T	207782931	3	4	123	1	0	0	0	0	1	0	0	0	3842	217	8	5	6339	5	CR1	1	207782931	Missense_Mutation	SNP	A	TCGA-XE-AAOF-01A-11D-A435-10	55506545	207782931	41467690	11	9162											
LBR	3930	broad.mit.edu	37	chr1	225592129	225592129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgggagggaccacgccaagGccatgatgagatcacccaag	13	4	13	11	1	1	2	1	2	0	1	1	5	1	4	4	3	0	0	4	3	2	0			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr1:225592129G>T	ENST00000338179.2	-	13	1789	c.1664C>A	c.(1663-1665)gCc>gAc	p.A555D	LBR_ENST00000272163.4_Missense_Mutation_p.A555D	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	555					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CCACGCCAAGGCCATGATGAG	0.468																																					p.A555D													.	LBR	54		0			c.C1664A												75	75	75					1																	225592129		2203	4300	6503	SO:0001583	missense	3930	exon13			GCCAAGGCCATGA	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1664C>A	1.37:g.225592129G>T	ENSP00000339883:p.Ala555Asp		136	0	0		170	0.04	6	NM_194442	59	0	0	B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	CCDS1545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.455039|4.455039	0.84209|0.84209	.|.	.|.	ENSG00000143815|ENSG00000143815	ENST00000272163;ENST00000338179|ENST00000441022	D;D|.	0.98249|.	-4.82;-4.82|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.048502|.	0.85682|.	D|.	0.000000|.	D|D	0.87454|0.87454	0.6181|0.6181	H|H	0.96547|0.96547	3.84|3.84	0.53005|0.53005	D|D	0.999969|0.999969	D|.	0.76494|.	0.999|.	D|.	0.76071|.	0.987|.	D|D	0.90681|0.90681	0.4605|0.4605	10|5	0.87932|.	D|.	0|.	-21.6836|-21.6836	15.5803|15.5803	0.76428|0.76428	0.0:0.1372:0.8628:0.0|0.0:0.1372:0.8628:0.0	.|.	555|.	Q14739|.	LBR_HUMAN|.	D|T	555|47	ENSP00000272163:A555D;ENSP00000339883:A555D|.	ENSP00000272163:A555D|.	A|P	-|-	2|1	0|0	LBR|LBR	223658752|223658752	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.954000|0.954000	0.61252|0.61252	6.557000|6.557000	0.73937|0.73937	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GCC|CCT			0.468	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091398.1		NM_002296		T	225592129	G	T	225592129	3	4	123	1	0	0	0	0	1	0	0	0	8667	1203	42	2	191	2	LBR	1	225592129	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	17809198	225592129	23658492	12	9163											
STRN	6801	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr2	37094974	37094974	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttatgggctctgaatgtAtagataggttctacatcaag	12	14	9	6	0	3	2	1	1	2	1	3	2	3	2	0	2	2	3	0	2	8	7			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr2:37094974A>G	ENST00000263918.4	-	12	1538	c.1530T>C	c.(1528-1530)taT>taC	p.Y510Y	STRN_ENST00000379213.2_Silent_p.Y461Y|RNU6-577P_ENST00000516947.1_RNA	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	510					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)	p.Y510*(1)		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)				CTCTGAATGTATAGATAGGTT	0.299																																					p.Y510Y													STRN,extremity,malignant_melanoma,0,1	STRN	0	1	1	Substitution - Nonsense(1)	skin(1)	c.T1530C												102	107	105					2																	37094974		2203	4292	6495	SO:0001819	synonymous_variant	6801	exon12			GAATGTATAGATA	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.1530T>C	2.37:g.37094974A>G			28	0	0		23	0.17	4	NM_003162	5	0	0	Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	CCDS1784.1																																																																																					0.299	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000218568.1				G	37094974	A	G	37094974	2	3	123	1	0	0	0	0	0	0	0	1	15352	456	16	4		4	STRN	2	37094974	Silent	SNP	A	TCGA-XE-AAOF-01A-11D-A435-10		37094974	206104399	13	9164											
MTA3	57504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	42836672	42836672	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaacatcagttgaaacatAgggaactctttttgtcacgc	14	11	8	8	1	3	2	2	1	1	1	3	3	3	3	0	1	3	1	0	1	4	4			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr2:42836672A>G	ENST00000405094.1	+	4	265	c.265A>G	c.(265-267)Agg>Ggg	p.R89G	MTA3_ENST00000406911.1_Missense_Mutation_p.R89G|MTA3_ENST00000405592.1_Missense_Mutation_p.R33G|MTA3_ENST00000407270.3_Missense_Mutation_p.R89G|MTA3_ENST00000406652.1_Missense_Mutation_p.R33G			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	89	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GTTGAAACATAGGGAACTCTT	0.378																																					p.R89G													.	.			0			c.A265G												111	107	108					2																	42836672		1877	4120	5997	SO:0001583	missense	57504	exon4			AAACATAGGGAAC	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.265A>G	2.37:g.42836672A>G	ENSP00000385823:p.Arg89Gly		156	0	0		128	0.1	13	NM_020744	69	0.33	23	Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37		.	.	.	.	.	.	.	.	.	.	A	13.77	2.336272	0.41398	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.31	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	M	0.89904	3.07	0.48452	D	0.999659	D;D;D	0.89917	0.996;0.995;1.0	D;D;D	0.80764	0.948;0.972;0.994	D	0.93599	0.6928	10	0.87932	D	0	-19.1551	10.7674	0.46301	0.6948:0.3052:0.0:0.0	.	89;89;33	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	G	33;33;89;89;89;89	ENSP00000383973:R33G;ENSP00000384249:R33G;ENSP00000385045:R89G;ENSP00000385241:R89G;ENSP00000385823:R89G	ENSP00000282366:R89G	R	+	1	2	MTA3	42690176	1.000000	0.71417	0.963000	0.40424	0.140000	0.21249	2.099000	0.41767	0.796000	0.33947	0.459000	0.35465	AGG			0.378	MTA3-017	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000318159.1		NM_020744		G	42836672	A	G	42836672	3	3	123	1	0	0	0	0	1	0	0	0	9926	411	15	4	279	4	MTA3	2	42836672	Missense_Mutation	SNP	A	TCGA-XE-AAOF-01A-11D-A435-10	5741698	42836672	200362701	14	9165											
USP34	9736	mdanderson.org	37	chr2	61575520	61575520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctagaattaacctcattGctagatccatcactatgccc	11	12	6	12	0	2	2	2	0	0	2	3	2	3	2	3	1	3	2	3	1	5	5			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr2:61575520G>T	ENST00000398571.2	-	15	1846	c.1770C>A	c.(1768-1770)agC>agA	p.S590R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	590					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)			TAACCTCATTGCTAGATCCAT	0.502																																					p.S590R													.	.			0			c.C1770A												110	113	112					2																	61575520		2084	4219	6303	SO:0001583	missense	9736	exon15			CTCATTGCTAGAT	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.1770C>A	2.37:g.61575520G>T	ENSP00000381577:p.Ser590Arg		38	0	0		67	0.06	4	NM_014709	5	0	0	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904573	0.72868	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04083	3.71	6.07	3.28	0.37604	.	0.085362	0.85682	D	0.000000	T	0.09862	0.0242	N	0.22421	0.69	0.51482	D	0.999928	D	0.61697	0.99	D	0.69142	0.962	T	0.16188	-1.0411	10	0.62326	D	0.03	.	11.5911	0.50945	0.2336:0.0:0.7664:0.0	.	590	Q70CQ2	UBP34_HUMAN	R	438;438;590	ENSP00000381577:S590R	ENSP00000263989:S438R	S	-	3	2	USP34	61429024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.263000	0.33004	1.575000	0.49775	0.650000	0.86243	AGC			0.502	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325650.4				T	61575520	G	T	61575520	3	4	123	1	0	0	0	0	1	0	0	0	17089	1310	46	2	9134	2	USP34	2	61575520	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	18738848	61575520	181623853	15	9166											
SFXN5	94097	hgsc.bcm.edu;mdanderson.org	37	chr2	73215427	73215427	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacctctggatgagaaggcgGgtggctggggtgaacttgtt	8	10	17	6	1	1	2	0	2	1	1	1	4	1	3	1	6	2	2	1	6	3	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr2:73215427G>T	ENST00000272433.2	-	10	715	c.585C>A	c.(583-585)acC>acA	p.T195T	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Silent_p.T195T	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	195					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						TGAGAAGGCGGGTGGCTGGGG	0.512																																					p.T195T													.	.			0			c.C585A												127	113	118					2																	73215427		2203	4300	6503	SO:0001819	synonymous_variant	94097	exon10			AAGGCGGGTGGCT	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.585C>A	2.37:g.73215427G>T			88	0	0		83	0.05	4	NM_144579	5	0	0	A8K116|Q494Y3|Q53T29	Silent	SNP	ENST00000272433.2	37	CCDS1922.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260795	0.23051	.	.	ENSG00000144040	ENST00000411783	.	.	.	5.39	2.59	0.31030	.	.	.	.	.	T	0.58680	0.2139	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51631	-0.8681	4	.	.	.	-34.5012	9.415	0.38517	0.221:0.0:0.779:0.0	.	.	.	.	T	185	.	.	P	-	1	0	SFXN5	73068935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.613000	0.46351	0.338000	0.23692	0.591000	0.81541	CCG			0.512	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251991.1		NM_144579		T	73215427	G	T	73215427	2	4	123	1	0	0	0	0	0	0	0	1	14221	1219	43	3		3	SFXN5	2	73215427	Silent	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	11639907	73215427	169983946	16	9167											
ATF2	1386	broad.mit.edu	37	chr2	175979466	175979466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgattacagtacttgagGttggtgaaggtactgcctgc	8	12	15	6	0	0	3	0	3	0	0	0	3	0	3	1	4	5	3	1	4	4	5			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr2:175979466G>T	ENST00000264110.2	-	8	876	c.578C>A	c.(577-579)aCc>aAc	p.T193N	ATF2_ENST00000487334.2_Missense_Mutation_p.T175N|ATF2_ENST00000345739.5_Missense_Mutation_p.T135N|ATF2_ENST00000392544.1_Missense_Mutation_p.T193N|ATF2_ENST00000409635.1_Missense_Mutation_p.T135N|ATF2_ENST00000538946.1_Missense_Mutation_p.T175N|ATF2_ENST00000426833.3_Missense_Mutation_p.T175N|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409833.1_Missense_Mutation_p.T193N|ATF2_ENST00000409437.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	193					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	AGTACTTGAGGTTGGTGAAGG	0.413																																					p.T193N	Pancreas(17;87 705 4534 15538 30988)												.	ATF2	52		0			c.C578A												281	251	262					2																	175979466		2203	4300	6503	SO:0001583	missense	1386	exon8			CTTGAGGTTGGTG	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.578C>A	2.37:g.175979466G>T	ENSP00000264110:p.Thr193Asn		90	0	0		160	0.03	4	NM_001880	25	0	0	A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872511	0.91587	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000437522;ENST00000409833	T;T;T;T;T;T;D;D	0.92858	-1.38;0.18;0.18;-1.38;-1.3;-0.86;-3.11;-3.12	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.93242	0.7847	L	0.33485	1.01	0.80722	D	1	D;D;D;D	0.71674	0.998;0.979;0.993;0.962	D;P;D;P	0.73708	0.981;0.714;0.933;0.714	D	0.90640	0.4574	10	0.17832	T	0.49	-10.7559	19.1885	0.93654	0.0:0.0:1.0:0.0	.	175;170;135;193	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	N	193;135;170;135;193;175;175;175;135;193	ENSP00000264110:T193N;ENSP00000340576:T135N;ENSP00000387093:T135N;ENSP00000376327:T193N;ENSP00000407911:T175N;ENSP00000437952:T175N;ENSP00000443513:T175N;ENSP00000386526:T193N	ENSP00000264110:T193N	T	-	2	0	ATF2	175687712	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.393000	0.97256	2.537000	0.85549	0.484000	0.47621	ACC			0.413	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000255562.1		NM_001880		T	175979466	G	T	175979466	3	4	123	1	0	0	0	0	1	0	0	0	1080	1261	44	3	967	3	ATF2	2	175979466	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	102764039	175979466	67219907	17	9168											
FZD5	7855	mdanderson.org	37	chr2	208632213	208632213	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagcccgccagcaggaaGagcgtgcccaccagcaggta	12	2	13	14	3	0	1	0	0	0	1	0	3	0	2	4	2	5	3	4	2	3	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr2:208632213G>T	ENST00000295417.3	-	2	1804	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	417					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CCAGCAGGAAGAGCGTGCCCA	0.647																																					p.L417L													.	.			0			c.C1251A												42	43	43					2																	208632213		2203	4300	6503	SO:0001819	synonymous_variant	7855	exon2			CAGGAAGAGCGTG	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1251C>A	2.37:g.208632213G>T			36	0	0		30	0.1	3	NM_003468	6	0	0	A8K2X1|B2RCZ1|Q53R22	Silent	SNP	ENST00000295417.3	37	CCDS33366.1																																																																																					0.647	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337060.1		NM_003468		T	208632213	G	T	208632213	2	4	123	1	0	0	0	0	0	0	0	1	6146	929	33	3		3	FZD5	2	208632213	Silent	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	32652747	208632213	34567160	18	9169											
ACADL	33	mdanderson.org	37	chr2	211068162	211068162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacatcagcaattaacaGcctttcctataacacaaaaa	17	9	3	12	0	1	0	1	0	0	0	2	0	2	0	3	0	5	1	3	0	6	4			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr2:211068162G>T	ENST00000233710.3	-	8	1104	c.877C>A	c.(877-879)Ctg>Atg	p.L293M	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	293					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GCAATTAACAGCCTTTCCTAT	0.303																																					p.L293M													.	.			0			c.C877A												78	70	73					2																	211068162		2202	4299	6501	SO:0001583	missense	33	exon8			TTAACAGCCTTTC	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.877C>A	2.37:g.211068162G>T	ENSP00000233710:p.Leu293Met		54	0	0		45	0.07	3	NM_001608	0		0	B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.651006	0.47362	.	.	ENSG00000115361	ENST00000233710	D	0.96885	-4.16	5.43	1.0	0.19881	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.066651	0.64402	D	0.000010	D	0.96901	0.8988	M	0.75447	2.3	0.50171	D	0.999852	D	0.89917	1.0	D	0.91635	0.999	D	0.94504	0.7712	10	0.45353	T	0.12	.	6.2931	0.21071	0.291:0.0:0.5842:0.1248	.	293	P28330	ACADL_HUMAN	M	293	ENSP00000233710:L293M	ENSP00000233710:L293M	L	-	1	2	ACADL	210776407	0.995000	0.38212	0.834000	0.33040	0.840000	0.47671	2.060000	0.41394	0.260000	0.21731	0.404000	0.27445	CTG			0.303	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256561.2		NM_001608		T	211068162	G	T	211068162	3	4	123	1	0	0	0	0	1	0	0	0	112	962	34	2	431	2	ACADL	2	211068162	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	2435949	211068162	32131211	19	9170											
GIGYF2	26058	mdanderson.org	37	chr2	233677194	233677194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagccaacagcttcacaGcctacaggtaaaaacttaga	15	8	6	12	0	2	1	2	0	0	1	2	1	2	1	2	1	6	2	2	1	6	5			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr2:233677194G>T	ENST00000409547.1	+	20	2411	c.2100G>T	c.(2098-2100)caG>caT	p.Q700H	GIGYF2_ENST00000452341.2_Missense_Mutation_p.Q531H|GIGYF2_ENST00000409196.3_Missense_Mutation_p.Q694H|GIGYF2_ENST00000409480.1_Missense_Mutation_p.Q722H|GIGYF2_ENST00000373566.3_Missense_Mutation_p.Q722H|GIGYF2_ENST00000373563.4_Missense_Mutation_p.Q700H|GIGYF2_ENST00000409451.3_Missense_Mutation_p.Q721H	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	700	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAGCTTCACAGCCTACAGGTA	0.378																																					p.Q721H													.	.			0			c.G2163T												66	63	64					2																	233677194		2203	4300	6503	SO:0001583	missense	26058	exon20			TTCACAGCCTACA	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.2100G>T	2.37:g.233677194G>T	ENSP00000386537:p.Gln700His		43	0	0		47	0.06	3	NM_001103147	39	0	0	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137302	0.56936	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.77098	-0.95;-0.91;-0.95;-0.91;-1.07;-0.91;-0.93;-1.06;-0.86	5.19	4.11	0.48088	.	0.063541	0.64402	D	0.000004	D	0.86159	0.5866	M	0.72894	2.215	0.40782	D	0.983184	D;D;D;D	0.61697	0.974;0.99;0.99;0.972	P;P;D;P	0.72982	0.838;0.856;0.979;0.735	D	0.87448	0.2399	10	0.54805	T	0.06	-2.2708	14.601	0.68441	0.0835:0.0:0.9165:0.0	.	531;721;700;694	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	H	722;643;700;722;700;700;643;694;721;694;531	ENSP00000362667:Q722H;ENSP00000362664:Q700H;ENSP00000386765:Q722H;ENSP00000386537:Q700H;ENSP00000404195:Q643H;ENSP00000387070:Q694H;ENSP00000387170:Q721H;ENSP00000410297:Q694H;ENSP00000411505:Q531H	ENSP00000362664:Q700H	Q	+	3	2	GIGYF2	233385438	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.836000	0.27545	2.416000	0.81992	0.655000	0.94253	CAG			0.378	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000330316.2		NM_001103146		T	233677194	G	T	233677194	3	4	123	1	0	0	0	0	1	0	0	0	6392	962	34	2	2232	2	GIGYF2	2	233677194	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	22609032	233677194	9522179	20	9171											
STAB1	23166	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	52537884	52537884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcctgcgaccggtctGccacttgccaggtgaccgct	4	10	10	17	3	2	1	0	1	2	0	3	2	2	1	6	2	3	1	6	2	0	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr3:52537884G>T	ENST00000321725.6	+	9	1064	c.988G>T	c.(988-990)Gcc>Tcc	p.A330S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	330					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)		CGACCGGTCTGCCACTTGCCA	0.657																																					p.A330S													.	.			0			c.G988T												50	46	47					3																	52537884		2203	4300	6503	SO:0001583	missense	23166	exon9			CGGTCTGCCACTT	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.988G>T	3.37:g.52537884G>T	ENSP00000312946:p.Ala330Ser		95	0	0		76	0.07	5	NM_015136	0		0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735483	0.49045	.	.	ENSG00000010327	ENST00000321725	T	0.12672	2.66	5.13	5.13	0.70059	.	0.070133	0.56097	D	0.000036	T	0.21674	0.0522	L	0.53671	1.685	0.46901	D	0.999243	D;P	0.54397	0.966;0.884	P;B	0.49252	0.604;0.292	T	0.00544	-1.1679	10	0.66056	D	0.02	.	14.1066	0.65093	0.0:0.0:1.0:0.0	.	330;330	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	S	330	ENSP00000312946:A330S	ENSP00000312946:A330S	A	+	1	0	STAB1	52512924	1.000000	0.71417	0.997000	0.53966	0.179000	0.23085	5.800000	0.69108	2.396000	0.81511	0.563000	0.77884	GCC			0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351380.2		NM_015136		T	52537884	G	T	52537884	3	4	123	1	0	0	0	0	1	0	0	0	15260	1319	46	2	1022	2	STAB1	3	52537884	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		52537884	145484546	21	9172											
KCNAB1	7881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	156232196	156232196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgataaaccaaggcatggcGatgtactggggcacctcgag	11	7	14	9	2	0	1	0	1	0	0	1	3	0	1	2	4	2	3	2	4	4	2	rs370190413		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr3:156232196G>A	ENST00000490337.1	+	9	766	c.702G>A	c.(700-702)gcG>gcA	p.A234A	KCNAB1_ENST00000302490.8_Silent_p.A216A|KCNAB1_ENST00000471742.1_Silent_p.A223A|KCNAB1_ENST00000389636.5_Silent_p.A205A|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Silent_p.A187A	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	234					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)			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)			AAGGCATGGCGATGTACTGGG	0.393																																					p.A234A													KCNAB1_ENST00000471742,colon,carcinoma,+1,2	KCNAB1_ENST00000471742	1	2	0			c.G702A							G	,,	1,4405	2.1+/-5.4	0,1,2202	190	183	185		669,648,702	-11	0	3		185	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNAB1	NM_003471.3,NM_172159.3,NM_172160.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	223/409,216/402,234/420	156232196	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7881	exon9			CATGGCGATGTAC	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.702G>A	3.37:g.156232196G>A			83	0	0		80	0.14	11	NM_172160	0		0	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	CCDS3174.1																																																																																					0.393	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000351411.1		NM_003471		A	156232196	G	A	156232196	2	1	123	1	0	0	0	0	0	0	0	1	8024	1045	37	1		1	KCNAB1	3	156232196	Silent	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	103694312	156232196	41790234	22	9173											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599320	55599320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgattttggtctagccagaGacatcaagaatgattctaat	13	13	9	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	5	rs121913506		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr4:55599320G>C	ENST00000288135.5	+	17	2543	c.2446G>C	c.(2446-2448)Gac>Cac	p.D816H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816H			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,0,932	KIT	0	932	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	c.G2446C												144	146	145					4																	55599320		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GCCAGAGACATCA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>C	4.37:g.55599320G>C	ENSP00000288135:p.Asp816His		61	0	0		60	0.43	26	NM_000222	68	0.72	49	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721319	0.68959	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83837	-1.77;-1.77	5.62	5.62	0.85841	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	0.000011	T	0.80732	0.4679	L	0.49699	1.58	0.80722	D	1	P;B	0.44734	0.842;0.353	B;B	0.38156	0.266;0.154	D	0.83488	0.0068	10	0.72032	D	0.01	.	19.6484	0.95791	0.0:0.0:1.0:0.0	rs28933969	812;816	P10721-2;P10721	.;KIT_HUMAN	H	816;812	ENSP00000288135:D816H;ENSP00000390987:D812H	ENSP00000288135:D816H	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				C	55599320	G	C	55599320	3	2	123	1	0	0	0	0	1	0	0	0	8344	942	33	5	2512	5	KIT	4	55599320	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		55599320	135554956	23	9174											
KDM3B	51780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr5	137729063	137729063	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttctttcacttccggaggTacccaaactcctgttttcct	6	16	6	13	1	2	0	1	0	1	0	5	1	5	1	4	2	2	3	4	2	2	6			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr5:137729063T>C	ENST00000314358.5	+	9	3031		c.e9+2		KDM3B_ENST00000394866.1_Splice_Site|KDM3B_ENST00000542866.1_Splice_Site	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B						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						CTTCCGGAGGTACCCAAACTC	0.448																																					.													.	.			0			c.2831+2T>C												44	43	43					5																	137729063		2203	4300	6503	SO:0001630	splice_region_variant	51780	exon9			CGGAGGTACCCAA	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.2831+2T>C	5.37:g.137729063T>C			107	0	0		95	0.21	20	NM_016604	109	1	109	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Splice_Site	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890912	0.72524	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.43	0.83839	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM3B	137756962	1.000000	0.71417	0.994000	0.49952	0.661000	0.39034	7.895000	0.87343	2.283000	0.76528	0.533000	0.62120	.			0.448	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373597.1		NM_016604	Intron	C	137729063	T	C	137729063	5	2	123	1	0	0	0	0	0	0	1	0	8142	1652	57	4	2867	4	KDM3B	5	137729063	Splice_Site	SNP	T	TCGA-XE-AAOF-01A-11D-A435-10		137729063	43186197	24	9175											
PCDHB14	56122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140605294	140605294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagggcatctggtggacgtGagcggcaccgggaccctgtc	6	6	16	13	3	1	1	0	1	1	0	2	3	1	3	3	5	1	2	3	5	0	0			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr5:140605294G>A	ENST00000239449.4	+	1	2217	c.2217G>A	c.(2215-2217)gtG>gtA	p.V739V	PCDHB14_ENST00000515856.2_Silent_p.V586V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	739					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)			TGGTGGACGTGAGCGGCACCG	0.622																																					p.V739V	Ovarian(141;50 1831 27899 33809 37648)												.	.			0			c.G2217A												81	96	91					5																	140605294		2203	4298	6501	SO:0001819	synonymous_variant	56122	exon1			GGACGTGAGCGGC	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.2217G>A	5.37:g.140605294G>A			100	0	0		73	0.25	18	NM_018934	1	0	0	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																					0.622	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251814.2		NM_018934		A	140605294	G	A	140605294	2	1	123	1	0	0	0	0	0	0	0	1	11556	1277	45	3		3	PCDHB14	5	140605294	Silent	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	2876231	140605294	40309966	25	9176											
TAF7	6879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	140699523	140699523	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaccagactgtactgccCttctcacagtagaggcatat	11	10	8	12	0	1	3	1	1	1	2	2	3	1	3	2	1	2	3	2	1	3	4			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr5:140699523C>G	ENST00000313368.5	-	1	807	c.89G>C	c.(88-90)aGg>aCg	p.R30T		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	30					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|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)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACTGCCCTTCTCACAGT	0.463																																					p.R30T													.	.			0			c.G89C												174	162	166					5																	140699523		2203	4300	6503	SO:0001583	missense	6879	exon1			ACTGCCCTTCTCA	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.89G>C	5.37:g.140699523C>G	ENSP00000312709:p.Arg30Thr		114	0	0		114	0.31	35	NM_005642	259	0.59	154	B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214106	0.58452	.	.	ENSG00000178913	ENST00000313368	T	0.23348	1.91	5.61	4.73	0.59995	TAFII55 protein, conserved region (1);	0.050491	0.85682	D	0.000000	T	0.25865	0.0630	L	0.45422	1.42	0.48341	D	0.999635	P	0.43231	0.801	B	0.43225	0.412	T	0.01405	-1.1363	10	0.66056	D	0.02	-11.1251	11.8756	0.52546	0.0:0.9162:0.0:0.0838	.	30	Q15545	TAF7_HUMAN	T	30	ENSP00000312709:R30T	ENSP00000312709:R30T	R	-	2	0	TAF7	140679707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.285000	0.51716	2.826000	0.97356	0.655000	0.94253	AGG			0.463	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251823.2		NM_005642		G	140699523	C	G	140699523	3	3	123	1	0	0	0	0	1	0	0	0	15555	681	24	5	964	5	TAF7	5	140699523	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	94229	140699523	40215737	26	9177											
CSNK1A1	1452	mdanderson.org	37	chr5	148929653	148929653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttaccgtatgtgggggatgCcaaccccaccttgaagaatc	10	9	10	12	1	0	2	0	1	0	1	1	3	0	3	5	2	3	1	5	2	5	3			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr5:148929653C>T	ENST00000377843.2	-	2	694	c.215G>A	c.(214-216)gGc>gAc	p.G72D	CSNK1A1_ENST00000261798.5_Missense_Mutation_p.G72D|CSNK1A1_ENST00000504676.1_5'UTR|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G72D|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.G72D|CSNK1A1_ENST00000515435.1_5'UTR	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTGGGGGATGCCAACCCCACC	0.547																																					p.G72D	Colon(5;64 69 1309 10383)												CSNK1A1_ENST00000515768,colon,carcinoma,+1,2	CSNK1A1_ENST00000515768	1	2	0			c.G215A												97	104	102					5																	148929653		2192	4299	6491	SO:0001583	missense	1452	exon2			GGGATGCCAACCC	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"clock regulator kinase"	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.215G>A	5.37:g.148929653C>T	ENSP00000367074:p.Gly72Asp		65	0	0		47	0.06	3	NM_001025105	49	0	0	D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890921	0.91889	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768;ENST00000515748	T;T;T;T	0.65364	-0.15;-0.15;-0.15;1.97	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.90249	0.6951	H	0.99881	4.885	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	0.94792	0.7963	10	0.87932	D	0	.	19.6758	0.95932	0.0:1.0:0.0:0.0	.	72;72;72	Q71TU5;P48729;P48729-2	.;KC1A_HUMAN;.	D	72	ENSP00000261798:G72D;ENSP00000367074:G72D;ENSP00000421689:G72D;ENSP00000421268:G72D	ENSP00000261798:G72D	G	-	2	0	CSNK1A1	148909846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.644000	0.89710	0.561000	0.74099	GGC			0.547	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_001892		T	148929653	C	T	148929653	3	4	123	1	0	0	0	0	1	0	0	0	3952	739	26	2	922	2	CSNK1A1	5	148929653	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	8230130	148929653	31985607	27	9178											
JARID2	3720	mdanderson.org	37	chr6	15496957	15496957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagaggaatcggccgaagCgggccacggccgggaagagc	10	2	19	10	5	0	2	0	0	0	2	1	6	0	4	3	6	2	0	3	6	3	0			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr6:15496957C>T	ENST00000341776.2	+	7	1745	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	JARID2_ENST00000397311.3_Missense_Mutation_p.R329W|JARID2_ENST00000541660.1_Missense_Mutation_p.R463W	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	501					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)				TCGGCCGAAGCGGGCCACGGC	0.642																																					p.R501W													JARID2,NS,carcinoma,-1,1	JARID2	-1	1	0			c.C1501T												31	38	35					6																	15496957		2203	4300	6503	SO:0001583	missense	3720	exon7			CCGAAGCGGGCCA	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.1501C>T	6.37:g.15496957C>T	ENSP00000341280:p.Arg501Trp		59	0	0		42	0.07	3	NM_004973	29	0	0	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905723	0.72868	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.91894	-2.22;-2.15;-2.93	5.4	1.3	0.21679	.	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	L	0.34521	1.04	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.965	D	0.90975	0.4823	10	0.87932	D	0	-13.1975	15.919	0.79544	0.656:0.344:0.0:0.0	.	463;365;501	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	W	365;501;329;463	ENSP00000341280:R501W;ENSP00000380478:R329W;ENSP00000444623:R463W	ENSP00000341280:R501W	R	+	1	2	JARID2	15604936	1.000000	0.71417	0.987000	0.45799	0.945000	0.59286	0.767000	0.26575	-0.054000	0.13266	0.561000	0.74099	CGG			0.642	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039926.1		NM_004973		T	15496957	C	T	15496957	3	4	123	1	0	0	0	0	1	0	0	0	7960	759	27	1	1527	1	JARID2	6	15496957	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10		15496957	155618110	28	9179											
UBR2	23304	broad.mit.edu	37	chr6	42633186	42633186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaccaaatctgactcagtgGattagaacaatatctcagca	16	9	6	10	0	3	2	2	1	2	1	4	3	3	3	1	1	3	1	1	1	6	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr6:42633186G>T	ENST00000372899.1	+	33	3996	c.3738G>T	c.(3736-3738)tgG>tgT	p.W1246C	RNU6-890P_ENST00000384121.1_RNA|UBR2_ENST00000372901.1_Missense_Mutation_p.W1246C|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1246					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGACTCAGTGGATTAGAACAA	0.308																																					p.W1246C													.	UBR2	134		0			c.G3738T												90	102	98					6																	42633186		2203	4298	6501	SO:0001583	missense	23304	exon33			TCAGTGGATTAGA	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3738G>T	6.37:g.42633186G>T	ENSP00000361990:p.Trp1246Cys		160	0	0		181	0.02	4	NM_015255	14	0	0	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082409	0.76528	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.59083	0.29;0.29	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.984	T	0.77938	-0.2400	10	0.54805	T	0.06	-10.0745	19.8472	0.96713	0.0:0.0:1.0:0.0	.	1246;1246	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	C	1246	ENSP00000361990:W1246C;ENSP00000361992:W1246C	ENSP00000361990:W1246C	W	+	3	0	UBR2	42741164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.750000	0.85110	2.768000	0.95171	0.650000	0.86243	TGG			0.308	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040558.2		NM_015255		T	42633186	G	T	42633186	3	4	123	1	0	0	0	0	1	0	0	0	16926	1183	41	3	4014	3	UBR2	6	42633186	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	27136229	42633186	128481881	29	9180											
UTRN	7402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	145095443	145095443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgacctgaataatgtaCgtttttctgcctaccgtaca	10	13	7	11	2	1	2	0	2	1	0	1	2	1	2	3	0	5	4	3	0	5	6			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr6:145095443C>T	ENST00000367545.3	+	59	8575	c.8575C>T	c.(8575-8577)Cgt>Tgt	p.R2859C	UTRN_ENST00000367526.4_Missense_Mutation_p.R414C	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2859	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAATAATGTACGTTTTTCTGC	0.323																																					p.R2859C													UTRN,NS,carcinoma,0,1	UTRN	0	1	0			c.C8575T												103	96	98					6																	145095443		2203	4300	6503	SO:0001583	missense	7402	exon59			AATGTACGTTTTT	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.8575C>T	6.37:g.145095443C>T	ENSP00000356515:p.Arg2859Cys		122	0	0		147	0.13	19	NM_007124	23	0.22	5	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766115	0.69878	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.72942	-0.7;-0.7	5.93	5.06	0.68205	EF-hand domain, type 1 (1);	0.000000	0.50627	D	0.000101	D	0.84929	0.5581	M	0.89785	3.06	0.52501	D	0.999957	D	0.89917	1.0	D	0.83275	0.996	D	0.87087	0.2170	10	0.87932	D	0	.	15.5297	0.75948	0.0:0.9331:0.0:0.0669	.	2859	P46939	UTRO_HUMAN	C	2859;414	ENSP00000356515:R2859C;ENSP00000356496:R414C	ENSP00000356496:R414C	R	+	1	0	UTRN	145137136	0.924000	0.31332	0.970000	0.41538	0.804000	0.45430	2.022000	0.41030	2.826000	0.97356	0.655000	0.94253	CGT			0.323	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042551.1				T	145095443	C	T	145095443	3	4	123	1	0	0	0	0	1	0	0	0	17127	536	19	1	8809	1	UTRN	6	145095443	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	102462257	145095443	26019624	30	9181											
HDAC9	9734	mdanderson.org	37	chr7	18875602	18875602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccatgggagatgttgAgtaccttgaagcattcaggt	9	12	11	9	0	1	3	1	2	0	1	3	4	3	3	3	2	2	3	3	2	2	4			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr7:18875602A>G	ENST00000432645.2	+	20	2657	c.2657A>G	c.(2656-2658)gAg>gGg	p.E886G	HDAC9_ENST00000401921.1_Missense_Mutation_p.E845G|HDAC9_ENST00000441542.2_Missense_Mutation_p.E889G|HDAC9_ENST00000406451.4_Missense_Mutation_p.E886G	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	886	Histone deacetylase.				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)	GGAGATGTTGAGTACCTTGAA	0.423																																					p.E889G													.	.			0			c.A2666G												76	73	74					7																	18875602		1845	4086	5931	SO:0001583	missense	9734	exon20			ATGTTGAGTACCT	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.2657A>G	7.37:g.18875602A>G	ENSP00000410337:p.Glu886Gly		58	0	0		48	0.06	3	NM_178425	0		0	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934774	0.52866	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.42	5.42	0.78866	Histone deacetylase domain (2);	0.000000	0.53938	D	0.000041	T	0.79885	0.4523	L	0.57130	1.785	0.80722	D	1	D;P;B;B;B	0.89917	1.0;0.692;0.346;0.398;0.346	D;B;B;B;B	0.91635	0.999;0.253;0.213;0.318;0.213	T	0.81488	-0.0910	10	0.87932	D	0	-21.0372	9.9037	0.41364	0.9238:0.0:0.0762:0.0	.	134;845;889;886;886	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	G	886;845;886;889;798	ENSP00000384657:E886G;ENSP00000383912:E845G;ENSP00000410337:E886G;ENSP00000408617:E889G	ENSP00000339165:E798G	E	+	2	0	HDAC9	18842127	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.574000	0.82434	2.044000	0.60594	0.460000	0.39030	GAG			0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000376176.1				G	18875602	A	G	18875602	3	3	123	1	0	0	0	0	1	0	0	0	7029	304	11	4	2857	4	HDAC9	7	18875602	Missense_Mutation	SNP	A	TCGA-XE-AAOF-01A-11D-A435-10		18875602	140263061	31	9182											
SCARA3	51435	ucsc.edu	37	chr8	27509049	27509049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagggccccgctgcagccGctgccagaagaacctatctt	8	6	11	16	2	1	2	0	0	1	2	1	2	1	2	6	1	4	3	6	1	3	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr8:27509049G>T	ENST00000301904.3	+	3	151	c.131G>T	c.(130-132)cGc>cTc	p.R44L	SCARA3_ENST00000337221.4_Missense_Mutation_p.R44L	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	44					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)	p.R44H(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CGCTGCAGCCGCTGCCAGAAG	0.622																																					p.R44L													SCARA3,colon,carcinoma,0,1	SCARA3	93	1	1	Substitution - Missense(1)	large_intestine(1)	c.G131T												55	54	54					8																	27509049		2203	4300	6503	SO:0001583	missense	51435	exon3			GCAGCCGCTGCCA	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"macrophage scavenger receptor-like 1"	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.131G>T	8.37:g.27509049G>T	ENSP00000301904:p.Arg44Leu		27	0	0		43	0.09	4	NM_182826	3	0	0	Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829809	0.91036	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.92595	2.19;-3.07	5.94	5.94	0.96194	.	0.046963	0.85682	D	0.000000	D	0.93360	0.7883	L	0.29908	0.895	0.41880	D	0.99031	D;D	0.69078	0.997;0.995	D;P	0.67231	0.95;0.891	D	0.94076	0.7340	10	0.87932	D	0	-24.5666	17.8674	0.88799	0.0:0.0:1.0:0.0	.	44;44	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	L	44	ENSP00000337985:R44L;ENSP00000301904:R44L	ENSP00000301904:R44L	R	+	2	0	SCARA3	27564968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.782000	0.47758	2.820000	0.97059	0.650000	0.86243	CGC			0.622	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376258.2		NM_016240		T	27509049	G	T	27509049	3	4	123	1	0	0	0	0	1	0	0	0	13902	1087	38	1	141	1	SCARA3	8	27509049	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		27509049	118854973	32	9183											
ZFAT	57623	hgsc.bcm.edu;broad.mit.edu	37	chr8	135615099	135615099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgtggatcctcaggtggGcctgcagcgagtgcttgaac	6	10	16	9	1	1	1	1	1	0	0	2	3	2	2	2	4	4	2	2	4	1	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr8:135615099G>T	ENST00000377838.3	-	6	1037	c.863C>A	c.(862-864)gCc>gAc	p.A288D	ZFAT_ENST00000520727.1_Missense_Mutation_p.A276D|ZFAT_ENST00000429442.2_Missense_Mutation_p.A276D|ZFAT_ENST00000520214.1_Missense_Mutation_p.A276D|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Missense_Mutation_p.A276D|ZFAT_ENST00000523399.1_Missense_Mutation_p.A226D	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	288					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)	p.A288D(1)|p.A276D(1)		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)			CCTCAGGTGGGCCTGCAGCGA	0.517																																					p.A288D													ZFAT_ENST00000377838,NS,carcinoma,0,2	ZFAT_ENST00000377838	0	2	2	Substitution - Missense(2)	endometrium(2)	c.C863A												98	101	100					8																	135615099		2009	4168	6177	SO:0001583	missense	57623	exon6			AGGTGGGCCTGCA	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.863C>A	8.37:g.135615099G>T	ENSP00000367069:p.Ala288Asp		118	0.0084745763	1		146	0.04	6	NM_020863	3	0	0	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160311	0.78226	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93;3.93	6.04	5.16	0.70880	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	0.10981	0.0268	L	0.39245	1.2	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.97110	0.998;1.0;0.999;0.959	T	0.40384	-0.9566	10	0.12103	T	0.63	-27.1517	16.4288	0.83833	0.0:0.1314:0.8685:0.0	.	226;276;276;288	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	D	276;276;276;288;276;276;226;276	ENSP00000427879:A276D;ENSP00000427831:A276D;ENSP00000394501:A276D;ENSP00000367069:A288D;ENSP00000428483:A276D;ENSP00000429091:A226D	ENSP00000326997:A276D	A	-	2	0	ZFAT	135684281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	1.545000	0.49373	0.563000	0.77884	GCC			0.517	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378272.1		NM_001029939		T	135615099	G	T	135615099	3	4	123	1	0	0	0	0	1	0	0	0	17655	1203	42	2	2912	2	ZFAT	8	135615099	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	108106050	135615099	10748923	33	9184											
GNAQ	2776	mdanderson.org	37	chr9	80646047	80646047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgagctcccggcgggcGtcccgcttgtccctgcggag	3	8	15	15	5	0	1	0	1	0	0	3	2	3	2	3	3	3	3	3	3	0	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr9:80646047G>A	ENST00000286548.4	-	1	327	c.105C>T	c.(103-105)gaC>gaT	p.D35D		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	35					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCCGGCGGGCGTCCCGCTTGT	0.716			Mis		uveal melanoma																																p.D35D				Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	.	.			0			c.C105T												10	11	11					9																	80646047		2164	4251	6415	SO:0001819	synonymous_variant	2776	exon1			GCGGGCGTCCCGC		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.105C>T	9.37:g.80646047G>A			33	0.0303030303	1		44	0.09	4	NM_002072	14	0	0	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Silent	SNP	ENST00000286548.4	37	CCDS6658.1																																																																																					0.716	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052761.1		NM_002072		A	80646047	G	A	80646047	2	1	123	1	0	0	0	0	0	0	0	1	6523	1136	40	1		1	GNAQ	9	80646047	Silent	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		80646047	60567384	34	9185											
MURC	347273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	103340547	103340547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgtgctggacaaagtagCctccatcgtggacagtgtgc	9	9	13	10	1	0	0	0	0	0	0	2	3	1	2	2	2	3	2	2	2	2	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr9:103340547C>A	ENST00000307584.5	+	1	187	c.122C>A	c.(121-123)gCc>gAc	p.A41D	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	41					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GACAAAGTAGCCTCCATCGTG	0.463																																					p.A41D													.	.			0			c.C122A												115	113	113					9																	103340547		2203	4300	6503	SO:0001583	missense	347273	exon1			AAGTAGCCTCCAT	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.122C>A	9.37:g.103340547C>A	ENSP00000418668:p.Ala41Asp		93	0	0		81	0.12	10	NM_001018116	2	0	0	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453865	0.63290	.	.	ENSG00000170681	ENST00000307584	T	0.61040	0.14	5.39	5.39	0.77823	.	0.062015	0.64402	D	0.000006	T	0.71213	0.3313	L	0.50333	1.59	0.52501	D	0.999959	D	0.76494	0.999	D	0.72075	0.976	T	0.73023	-0.4113	10	0.66056	D	0.02	-16.1833	16.6642	0.85248	0.0:1.0:0.0:0.0	.	41	Q5BKX8	MURC_HUMAN	D	41	ENSP00000418668:A41D	ENSP00000418668:A41D	A	+	2	0	MURC	102380368	1.000000	0.71417	0.657000	0.29651	0.980000	0.70556	6.089000	0.71384	2.532000	0.85374	0.655000	0.94253	GCC			0.463	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053419.2		NM_001018116		A	103340547	C	A	103340547	3	1	123	1	0	0	0	0	1	0	0	0	10003	739	26	2	124	2	MURC	9	103340547	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	22694500	103340547	37872884	35	9186											
C9orf96	169436	mdanderson.org	37	chr9	136265624	136265624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgatgtccagctgtgtGcctgctccctgctgctgcac	3	12	10	16	1	0	0	0	0	0	0	4	1	3	0	4	0	6	5	4	0	0	0			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr9:136265624G>T	ENST00000371957.3	+	12	1272	c.1165G>T	c.(1165-1167)Gcc>Tcc	p.A389S	C9orf96_ENST00000371955.1_Missense_Mutation_p.A14S	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		389							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAGCTGTGTGCCTGCTCCCT	0.682																																					p.A389S													.	.			0			c.G1165T												143	97	113					9																	136265624		2203	4300	6503	SO:0001583	missense	169436	exon12			CTGTGTGCCTGCT																												ENST00000371957.3:c.1165G>T	9.37:g.136265624G>T	ENSP00000361025:p.Ala389Ser		18	0	0		11	0.18	2	NM_153710	0		0	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	7.067	0.567560	0.13560	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.62941	-0.01;-0.01	4.48	2.53	0.30540	Armadillo-like helical (1);Armadillo-type fold (1);	0.634581	0.14786	N	0.298503	T	0.51058	0.1652	M	0.62723	1.935	0.09310	N	1	P	0.45126	0.851	B	0.39339	0.297	T	0.36212	-0.9757	10	0.15952	T	0.53	-11.5035	5.5265	0.16960	0.1046:0.0:0.7013:0.1941	.	389	Q8NE28	SGK71_HUMAN	S	389;14	ENSP00000361025:A389S;ENSP00000361023:A14S	ENSP00000361023:A14S	A	+	1	0	C9orf96	135255445	0.299000	0.24426	0.266000	0.24541	0.805000	0.45488	1.151000	0.31651	0.440000	0.26502	0.561000	0.74099	GCC			0.682	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054855.1				T	136265624	G	T	136265624	3	4	123	1	0	0	0	0	1	0	0	0	2510	1319	46	2	1211	2	C9orf96	9	136265624	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	32925077	136265624	4947807	36	9187											
ADAMTS13	11093	mdanderson.org	37	chr9	136302973	136302973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtatgccaagtggccccCgggaggacgggaccctgagc	7	5	17	12	2	0	1	0	1	0	0	0	4	0	4	4	5	2	1	4	5	2	1	rs370215524		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr9:136302973C>G	ENST00000371929.3	+	13	1984	c.1540C>G	c.(1540-1542)Cgg>Ggg	p.R514G	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R514G|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R186G|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R483G	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	514	Cysteine-rich.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AAGTGGCCCCCGGGAGGACGG	0.632																																					p.R514G													.	.			0			c.C1540G												83	89	87					9																	136302973		2203	4300	6503	SO:0001583	missense	11093	exon13			GGCCCCCGGGAGG	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1540C>G	9.37:g.136302973C>G	ENSP00000360997:p.Arg514Gly		67	0	0		42	0.07	3	NM_139025	0		0	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	4.939	0.174449	0.09391	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.42	3.45	0.39498	.	.	.	.	.	T	0.54498	0.1862	L	0.40543	1.245	0.09310	N	1	B;B;P	0.35944	0.394;0.27;0.529	B;B;B	0.30029	0.08;0.11;0.11	T	0.39702	-0.9601	9	0.49607	T	0.09	.	11.0125	0.47671	0.362:0.638:0.0:0.0	.	514;483;514	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	G	514;514;483;186	ENSP00000360997:R514G;ENSP00000347927:R514G;ENSP00000348997:R483G;ENSP00000444504:R186G	ENSP00000347927:R514G	R	+	1	2	ADAMTS13	135292794	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.103000	0.10940	0.537000	0.28751	0.655000	0.94253	CGG			0.632	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054920.1		NM_139025		G	136302973	C	G	136302973	3	3	123	1	0	0	0	0	1	0	0	0	258	643	23	5	1590	5	ADAMTS13	9	136302973	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	37349	136302973	4910458	37	9188											
WAPAL	23063	mdanderson.org	37	chr10	88206160	88206160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctttgatcaactcatctGttttactttctgctagctgg	7	18	6	10	0	5	1	2	1	3	0	5	1	5	1	0	1	4	3	0	1	3	5			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr10:88206160G>T	ENST00000298767.5	-	16	3633	c.3161C>A	c.(3160-3162)aCa>aAa	p.T1054K	WAPAL_ENST00000263070.7_Missense_Mutation_p.T266K|WAPAL_ENST00000372075.1_Missense_Mutation_p.T266K|WAPAL_ENST00000484070.1_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1054	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CAACTCATCTGTTTTACTTTC	0.408																																					p.T1054K													.	.			0			c.C3161A												125	114	118					10																	88206160		2203	4300	6503	SO:0001583	missense	23063	exon16			TCATCTGTTTTAC	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3161C>A	10.37:g.88206160G>T	ENSP00000298767:p.Thr1054Lys		69	0	0		71	0.06	4	NM_015045	42	0	0	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159980	0.78226	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T	0.52057	0.68	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	M	0.69358	2.11	0.50813	D	0.999896	D;P;D;D	0.89917	0.999;0.74;0.999;1.0	D;B;D;D	0.85130	0.994;0.364;0.994;0.997	T	0.61342	-0.7082	10	0.27082	T	0.32	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	1048;1092;1054;1091	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	K	1139;1054;1139;266;266	ENSP00000298767:T1054K	ENSP00000263070:T266K	T	-	2	0	WAPAL	88196140	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.860000	0.99555	2.730000	0.93505	0.655000	0.94253	ACA			0.408	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049151.2		NM_015045		T	88206160	G	T	88206160	3	4	123	1	0	0	0	0	1	0	0	0	17272	1377	48	3	427	3	WAPAL	10	88206160	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		88206160	47328587	38	9189											
MINPP1	9562	mdanderson.org	37	chr10	89265232	89265232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagttccaagcaccgctGcatggatagcagcgccgcct	9	6	10	16	3	0	0	0	0	0	0	1	1	1	1	5	1	4	5	5	1	2	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr10:89265232G>T	ENST00000371996.4	+	1	601	c.560G>T	c.(559-561)tGc>tTc	p.C187F	MINPP1_ENST00000371994.4_Missense_Mutation_p.C187F|MINPP1_ENST00000536010.1_5'Flank	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	187					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		AAGCACCGCTGCATGGATAGC	0.692											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C187F													.	.			0			c.G560T												19	22	21					10																	89265232		2200	4298	6498	SO:0001583	missense	9562	exon1			ACCGCTGCATGGA	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"multiple inositol polyphosphate histidine phosphatase, 1"			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.560G>T	10.37:g.89265232G>T	ENSP00000361064:p.Cys187Phe		53	0	0	1266	38	0.08	3	NM_001178117	8	0	0	F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822129	0.90873	.	.	ENSG00000107789	ENST00000371996;ENST00000371994;ENST00000546140	T;T	0.78126	-1.15;-1.15	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.87822	0.6274	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.967;0.981	D	0.89471	0.3743	10	0.87932	D	0	-18.0154	16.9734	0.86306	0.0:0.0:1.0:0.0	.	187;187	Q9UNW1-2;Q9UNW1	.;MINP1_HUMAN	F	187;187;46	ENSP00000361064:C187F;ENSP00000361062:C187F	ENSP00000361062:C187F	C	+	2	0	MINPP1	89255212	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.023000	0.88764	2.541000	0.85698	0.563000	0.77884	TGC			0.692	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049221.1				T	89265232	G	T	89265232	3	4	123	1	0	0	0	0	1	0	0	0	9604	1319	46	2	562	2	MINPP1	10	89265232	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	1059072	89265232	46269515	39	9190											
C10orf26	54838	mdanderson.org	37	chr10	104572753	104572753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacagctctgaacacggcGcacccgacagcaaagagaag	15	3	11	12	3	1	3	0	2	1	1	1	5	1	3	1	1	3	3	1	1	3	0	rs201591380		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr10:104572753G>A	ENST00000369889.4	+	4	836	c.694G>A	c.(694-696)Gca>Aca	p.A232T	WBP1L_ENST00000448841.1_Missense_Mutation_p.A253T	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	232						integral component of membrane (GO:0016021)											TGAACACGGCGCACCCGACAG	0.602													g|||	1	0.000199681	0	0	5008	,	,		18671	0.001		0	False		,,,				2504	0				p.A253T													C10orf26,NS,carcinoma,0,1	C10orf26	0	1	0			c.G757A												54	50	51					10																	104572753		2203	4300	6503	SO:0001583	missense	54838	exon4			CACGGCGCACCCG	AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"outcome predictor in acute leukemia 1"	611129	"chromosome 10 open reading frame 26"	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.694G>A	10.37:g.104572753G>A	ENSP00000358905:p.Ala232Thr		46	0	0		35	0.09	3	NM_001083913	14	0	0	B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Missense_Mutation	SNP	ENST00000369889.4	37	CCDS7540.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	4.369	0.067966	0.08436	.	.	ENSG00000166272	ENST00000448841;ENST00000369889	T;T	0.30981	1.51;1.51	6.05	-5.34	0.02705	.	0.790379	0.12508	N	0.462665	T	0.13157	0.0319	N	0.08118	0	0.20074	N	0.999932	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32771	-0.9894	10	0.14252	T	0.57	-0.4169	14.86	0.70372	0.4162:0.0:0.5838:0.0	.	253;232	Q9NX94-2;Q9NX94	.;OPA1L_HUMAN	T	253;232	ENSP00000414721:A253T;ENSP00000358905:A232T	ENSP00000358905:A232T	A	+	1	0	C10orf26	104562743	0.006000	0.16342	0.010000	0.14722	0.003000	0.03518	-0.395000	0.07287	-0.883000	0.03982	-0.997000	0.02515	GCA	0		0.602	WBP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000050100.1		NM_017787		A	104572753	G	A	104572753	3	1	123	1	0	0	0	0	1	0	0	0	1601	1087	38	1	802	1	C10orf26	10	104572753	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	15307521	104572753	30961994	40	9191											
MICALCL	84953	mdanderson.org	37	chr11	12316251	12316251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacatcagggacctctttGgcagccccaagaggaaggtg	11	6	14	10	0	2	1	1	0	1	1	2	4	2	4	3	5	1	1	3	5	2	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr11:12316251G>T	ENST00000256186.2	+	3	1564	c.1273G>T	c.(1273-1275)Ggc>Tgc	p.G425C		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	425					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GGACCTCTTTGGCAGCCCCAA	0.517																																					p.G425C													.	.			0			c.G1273T												83	86	85					11																	12316251		1915	4115	6030	SO:0001583	missense	84953	exon3			CTCTTTGGCAGCC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1273G>T	11.37:g.12316251G>T	ENSP00000256186:p.Gly425Cys		51	0	0		34	0.09	3	NM_032867	0		0	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	8.857	0.946069	0.18356	.	.	ENSG00000133808	ENST00000256186	T	0.11495	2.77	5.17	-0.0996	0.13624	.	0.656021	0.13809	N	0.361264	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	B	0.43754	0.43	T	0.35599	-0.9782	10	0.56958	D	0.05	.	7.5397	0.27731	0.5896:0.0:0.4104:0.0	.	425	Q6ZW33	MICLK_HUMAN	C	425	ENSP00000256186:G425C	ENSP00000256186:G425C	G	+	1	0	MICALCL	12272827	0.000000	0.05858	0.001000	0.08648	0.118000	0.20060	0.408000	0.21065	-0.118000	0.11851	-0.691000	0.03719	GGC			0.517	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386164.1		NM_032867		T	12316251	G	T	12316251	3	4	123	1	0	0	0	0	1	0	0	0	9588	1348	47	3	1279	3	MICALCL	11	12316251	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		12316251	122690265	41	9192											
SLC39A13	91252	mdanderson.org	37	chr11	47436633	47436633	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacggcagcctgggtcctGcccttcacctctggcggctt	4	9	13	15	2	2	1	1	0	1	1	3	2	3	1	4	4	2	2	4	4	0	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr11:47436633G>T	ENST00000362021.4	+	9	1005	c.963G>T	c.(961-963)ctG>ctT	p.L321L	SLC39A13_ENST00000354884.4_Silent_p.L314L|SLC39A13_ENST00000524928.1_3'UTR|SLC39A13_ENST00000533076.1_Missense_Mutation_p.C313F	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	321					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		CCTGGGTCCTGCCCTTCACCT	0.622																																					p.L321L													.	.			0			c.G963T												51	50	50					11																	47436633		2201	4297	6498	SO:0001819	synonymous_variant	91252	exon9			GGTCCTGCCCTTC		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"Solute carriers"	20859	protein-coding gene	gene with protein product		608735	"solute carrier family 39 (metal ion transporter), member 13"			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.963G>T	11.37:g.47436633G>T			50	0	0		48	0.06	3	NM_001128225	26	0	0	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Silent	SNP	ENST00000362021.4	37	CCDS44592.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496234	0.44352	.	.	ENSG00000165915	ENST00000533076	T	0.70516	-0.49	5.46	3.54	0.40534	.	.	.	.	.	T	0.71160	0.3307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71761	-0.4495	6	0.66056	D	0.02	-8.9814	3.8029	0.08765	0.098:0.2813:0.4988:0.1219	.	.	.	.	F	313	ENSP00000434290:C313F	ENSP00000434290:C313F	C	+	2	0	SLC39A13	47393209	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.003000	0.49505	1.303000	0.44873	0.462000	0.41574	TGC			0.622	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000395652.1		NM_152264		T	47436633	G	T	47436633	2	4	123	1	0	0	0	0	0	0	0	1	14639	1306	46	2		2	SLC39A13	11	47436633	Silent	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	35120382	47436633	87569883	42	9193											
POLR2G	5436	mdanderson.org	37	chr11	62529311	62529311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcacccgcgctacttcggCcccaacttgctcaacacggt	7	8	8	18	4	1	0	1	0	0	0	2	0	1	0	3	2	5	3	3	2	3	3			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr11:62529311C>T	ENST00000301788.7	+	2	162	c.57C>T	c.(55-57)ggC>ggT	p.G19G		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	19					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|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)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						GCTACTTCGGCCCCAACTTGC	0.607																																					p.G19G													.	.			0			c.C57T												146	142	143					11																	62529311		2202	4299	6501	SO:0001819	synonymous_variant	5436	exon2			CTTCGGCCCCAAC	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"RNA polymerase subunits"	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.57C>T	11.37:g.62529311C>T			45	0	0		34	0.09	3	NM_002696	77	0	0	B2R5C0|P52433|Q2M1Z4	Silent	SNP	ENST00000301788.7	37	CCDS31585.1																																																																																					0.607	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395344.1		NM_002696		T	62529311	C	T	62529311	2	4	123	1	0	0	0	0	0	0	0	1	12237	726	26	2		2	POLR2G	11	62529311	Silent	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	15092678	62529311	72477205	43	9194											
ARAP1	116985	mdanderson.org	37	chr11	72406494	72406494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgcagatgaagtcacCggcatgctgcagggagacag	11	6	14	10	1	1	3	1	1	0	2	1	4	1	3	1	2	3	4	1	2	1	0	rs375239868		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr11:72406494C>T	ENST00000393609.3	-	26	3716	c.3514G>A	c.(3514-3516)Ggt>Agt	p.G1172S	ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Missense_Mutation_p.G927S|ARAP1_ENST00000426523.1_Missense_Mutation_p.G927S|ARAP1_ENST00000455638.2_Missense_Mutation_p.G1172S|ARAP1_ENST00000429686.1_Missense_Mutation_p.G866S|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.G1172S|ARAP1_ENST00000393605.3_Missense_Mutation_p.G932S	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1172	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)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ATGAAGTCACCGGCATGCTGC	0.592																																					p.G1172S	Ovarian(102;1198 1520 13195 17913 37529)												.	.			0			c.G3514A							C	SER/GLY,SER/GLY,SER/GLY	0,4400		0,0,2200	76	66	69		3514,2596,2779	3.9	1	11		69	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	ARAP1	NM_001040118.2,NM_001135190.1,NM_015242.4	56,56,56	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1172/1451,866/1134,927/1206	72406494	1,12985	2200	4293	6493	SO:0001583	missense	116985	exon26			AGTCACCGGCATG	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.3514G>A	11.37:g.72406494C>T	ENSP00000377233:p.Gly1172Ser		65	0	0		52	0.06	3	NM_001040118	43	0	0	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992511	0.74703	0.0	1.16E-4	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686	T;T;T;T;T;T;T	0.09911	2.93;2.93;2.97;3.02;2.93;3.02;2.99	4.85	3.91	0.45181	Ras-association (1);	0.148043	0.43579	D	0.000541	T	0.22551	0.0544	L	0.55481	1.735	0.40153	D	0.97697	D;D;P;D;D	0.57257	0.979;0.966;0.671;0.979;0.974	D;P;B;P;P	0.63381	0.914;0.5;0.19;0.725;0.861	T	0.00839	-1.1545	10	0.56958	D	0.05	.	8.9308	0.35668	0.1686:0.6684:0.163:0.0	.	927;866;1172;1172;932	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	S	1172;1172;932;927;1172;927;866	ENSP00000352332:G1172S;ENSP00000390461:G1172S;ENSP00000377230:G932S;ENSP00000335506:G927S;ENSP00000377233:G1172S;ENSP00000392264:G927S;ENSP00000403127:G866S	ENSP00000335506:G927S	G	-	1	0	ARAP1	72084142	0.944000	0.32072	0.972000	0.41901	0.833000	0.47200	3.105000	0.50314	0.982000	0.38575	0.460000	0.39030	GGT			0.592	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347428.1		NM_001040118		T	72406494	C	T	72406494	3	4	123	1	0	0	0	0	1	0	0	0	838	652	23	1	878	1	ARAP1	11	72406494	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	9877183	72406494	62600022	44	9195											
HEPHL1	341208	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr11	93796882	93796882	+	Frame_Shift_Del	DEL	G	G	-																															gggcccctgctggtctgcaaGgaaggtaaggagctttgttt																										TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr11:93796882delG	ENST00000315765.9	+	3	632	c.624delG	c.(622-624)aagfs	p.K208fs		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	208					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGTCTGCAAGGAAGGTAAGG	0.517																																					p.K208fs													.	HEPHL1	144		0			c.623delA												87	86	86					11																	93796882		1932	4124	6056	SO:0001589	frameshift_variant	341208	exon3			CTGCAAGGAAGGT	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.624delG	11.37:g.93796882delG	ENSP00000313699:p.Lys208fs		75	0	0		61	0.25	15	NM_001098672	0		0	Q3C1W7	Frame_Shift_Del	DEL	ENST00000315765.9	37	CCDS44710.1																																																																																					0.517	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396103.2		XM_291947		-	93796882	G	-	93796882	7	5	123	1	0	1	0	1	0	0	0	0	7070	991	35	0	634	0	HEPHL1	11	93796882	Frame_Shift_Del	DEL	G	TCGA-XE-AAOF-01A-11D-A435-10	21390388	93796882	41209634	45	9196											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451483	110451483	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaattgcatcacagctGgacttgcgtagctttttctg	10	13	10	8	1	2	1	1	0	1	1	2	3	2	2	0	1	4	4	0	1	3	5			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr11:110451483G>T	ENST00000260283.4	-	16	2471	c.2187C>A	c.(2185-2187)tcC>tcA	p.S729S	ARHGAP20_ENST00000529591.1_Silent_p.S272S|ARHGAP20_ENST00000357139.3_Silent_p.S703S|ARHGAP20_ENST00000528829.1_Silent_p.S693S|ARHGAP20_ENST00000533353.1_Silent_p.S703S|ARHGAP20_ENST00000527598.1_Silent_p.S693S|ARHGAP20_ENST00000524756.1_Silent_p.S706S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	729					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(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CATCACAGCTGGACTTGCGTA	0.458																																					p.S729S													.	ARHGAP20	150		0			c.C2187A												63	66	65					11																	110451483		2201	4298	6499	SO:0001819	synonymous_variant	57569	exon16			ACAGCTGGACTTG	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2187C>A	11.37:g.110451483G>T			104	0	0		89	0.03	3	NM_020809	1	0	0	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	CCDS31673.1																																																																																					0.458	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390628.1		NM_020809		T	110451483	G	T	110451483	2	4	123	1	0	0	0	0	0	0	0	1	870	1335	47	3		3	ARHGAP20	11	110451483	Silent	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	16654601	110451483	24555033	46	9197											
CHD4	1108	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr12	6707254	6707254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggaacatcacctgacaGtgcagctccagctttgagcg	9	10	10	12	2	1	2	1	2	0	0	3	3	2	3	2	1	5	3	2	1	1	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr12:6707254G>C	ENST00000357008.2	-	12	1861	c.1698C>G	c.(1696-1698)caC>caG	p.H566Q	CHD4_ENST00000544040.1_Missense_Mutation_p.H559Q|CHD4_ENST00000544484.1_Missense_Mutation_p.H563Q|CHD4_ENST00000309577.6_Missense_Mutation_p.H566Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	566	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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						TCACCTGACAGTGCAGCTCCA	0.468																																					p.H566Q	Colon(32;586 792 4568 16848 45314)												.	.			0			c.C1698G												109	111	110					12																	6707254		2203	4300	6503	SO:0001583	missense	1108	exon12			CTGACAGTGCAGC	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.1698C>G	12.37:g.6707254G>C	ENSP00000349508:p.His566Gln		102	0	0		95	0.04	4	NM_001273	76	0.21	16	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	8.194	0.796682	0.16327	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.21	0.194	0.15143	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.054528	0.64402	D	0.000001	T	0.71660	0.3366	M	0.69358	2.11	0.50313	D	0.999869	P;P;P	0.47302	0.893;0.757;0.531	B;P;B	0.50708	0.36;0.648;0.107	T	0.68876	-0.5293	10	0.54805	T	0.06	1.9451	8.8688	0.35303	0.4797:0.0:0.5203:0.0	.	566;566;559	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	563;559;566;566;540	ENSP00000440392:H563Q;ENSP00000440542:H559Q;ENSP00000312419:H566Q;ENSP00000349508:H566Q	ENSP00000312419:H566Q	H	-	3	2	CHD4	6577515	1.000000	0.71417	0.996000	0.52242	0.399000	0.30720	0.843000	0.27640	-0.151000	0.11176	0.467000	0.42956	CAC			0.468	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001273		C	6707254	G	C	6707254	3	2	123	1	0	0	0	0	1	0	0	0	3329	1020	36	5	4156	5	CHD4	12	6707254	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		6707254	127144641	47	9198											
PLXNC1	10154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	94631464	94631464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctacattaagtccattgagCcacagaaagtatcgacatta	15	11	6	9	1	1	2	0	1	1	1	3	3	2	2	2	0	2	1	2	0	5	5			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr12:94631464C>T	ENST00000258526.4	+	10	2254	c.2005C>T	c.(2005-2007)Cca>Tca	p.P669S		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	669					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						GTCCATTGAGCCACAGAAAGT	0.403																																					p.P669S													.	.			0			c.C2005T												81	72	75					12																	94631464		2203	4300	6503	SO:0001583	missense	10154	exon10			ATTGAGCCACAGA	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.2005C>T	12.37:g.94631464C>T	ENSP00000258526:p.Pro669Ser		65	0	0		61	0.18	11	NM_005761	0		0	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048869	0.75846	.	.	ENSG00000136040	ENST00000258526	D	0.94330	-3.4	5.99	5.99	0.97316	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.101382	0.64402	D	0.000001	D	0.94295	0.8167	N	0.20986	0.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94977	0.8122	10	0.87932	D	0	.	18.2507	0.90002	0.0:1.0:0.0:0.0	.	669	O60486	PLXC1_HUMAN	S	669	ENSP00000258526:P669S	ENSP00000258526:P669S	P	+	1	0	PLXNC1	93155595	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.939000	0.48995	2.840000	0.97914	0.655000	0.94253	CCA			0.403	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408126.2				T	94631464	C	T	94631464	3	4	123	1	0	0	0	0	1	0	0	0	12143	739	26	2	2043	2	PLXNC1	12	94631464	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	87924210	94631464	39220431	48	9199											
ABCB9	23457	mdanderson.org	37	chr12	123425487	123425487	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtcgatgaactcgaacAccttctcagcagcccccact	9	7	8	17	3	1	1	1	1	1	0	4	3	1	1	4	1	4	1	4	1	2	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr12:123425487A>G	ENST00000542678.1	-	8	4274	c.1436T>C	c.(1435-1437)gTg>gCg	p.V479A	ABCB9_ENST00000442833.2_Missense_Mutation_p.V479A|ABCB9_ENST00000346530.5_Missense_Mutation_p.V436A|ABCB9_ENST00000442028.2_Missense_Mutation_p.V479A|ABCB9_ENST00000344275.7_Missense_Mutation_p.V479A|ABCB9_ENST00000280560.8_Missense_Mutation_p.V479A|ABCB9_ENST00000540285.1_Intron|ABCB9_ENST00000392439.3_Missense_Mutation_p.V479A|ABCB9_ENST00000541983.1_5'UTR			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	479					peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GAACTCGAACACCTTCTCAGC	0.637																																					p.V479A	Ovarian(49;786 1333 9175 38236)												.	.			0			c.T1436C												58	38	44					12																	123425487		2203	4300	6503	SO:0001583	missense	23457	exon8			TCGAACACCTTCT	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1436T>C	12.37:g.123425487A>G	ENSP00000440288:p.Val479Ala		66	0	0		58	0.07	4	NM_001243014	3	0	0	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	A	33	5.196608	0.94960	.	.	ENSG00000150967	ENST00000280560;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000542448;ENST00000545373	D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.38	5.38	0.77491	ABC transporter, transmembrane domain, type 1 (1);	0.061488	0.64402	D	0.000004	D	0.89487	0.6729	M	0.62209	1.925	0.58432	D	0.999997	P;D;D;D	0.89917	0.927;0.994;1.0;0.972	P;D;D;P	0.73380	0.685;0.919;0.98;0.831	D	0.90649	0.4581	10	0.87932	D	0	-34.6871	15.4021	0.74849	1.0:0.0:0.0:0.0	.	86;479;436;479	B4DFR8;Q9NP78-3;Q9NP78-2;Q9NP78	.;.;.;ABCB9_HUMAN	A	479;436;479;479;479;105;86	ENSP00000280560:V479A;ENSP00000280559:V436A;ENSP00000376234:V479A;ENSP00000440288:V479A;ENSP00000394898:V479A;ENSP00000440244:V105A;ENSP00000444834:V86A	ENSP00000280560:V479A	V	-	2	0	ABCB9	121991440	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.303000	0.96183	2.035000	0.60131	0.533000	0.62120	GTG			0.637	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400956.1		NM_019624		G	123425487	A	G	123425487	3	3	123	1	0	0	0	0	1	0	0	0	48	159	6	4	884	4	ABCB9	12	123425487	Missense_Mutation	SNP	A	TCGA-XE-AAOF-01A-11D-A435-10	28794023	123425487	10426408	49	9200											
CATSPERB	79820	mdanderson.org	37	chr14	92191427	92191427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctattagtggaccttaccaaGttttctaagaaaagatacaa	16	12	6	7	0	1	2	0	0	1	2	1	3	1	3	2	1	2	1	2	1	9	7			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr14:92191427G>T	ENST00000256343.3	-	3	321	c.165C>A	c.(163-165)aaC>aaA	p.N55K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	55					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)				ACCTTACCAAGTTTTCTAAGA	0.328																																					p.N55K													.	.			0			c.C165A												66	60	62					14																	92191427		2201	4294	6495	SO:0001583	missense	79820	exon3			TACCAAGTTTTCT	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.165C>A	14.37:g.92191427G>T	ENSP00000256343:p.Asn55Lys		35	0	0		31	0.1	3	NM_024764	0		0	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	9.896	1.205645	0.22205	.	.	ENSG00000133962	ENST00000256343;ENST00000553329;ENST00000554560;ENST00000556661;ENST00000553676	T	0.42131	0.98	5.0	1.21	0.21127	.	1.103650	0.06965	N	0.817035	T	0.29423	0.0733	L	0.29908	0.895	0.09310	N	0.999997	B	0.17268	0.021	B	0.18561	0.022	T	0.27872	-1.0061	10	0.44086	T	0.13	-1.1561	4.0212	0.09667	0.2853:0.1809:0.5338:0.0	.	55	Q9H7T0	CTSRB_HUMAN	K	55	ENSP00000256343:N55K	ENSP00000256343:N55K	N	-	3	2	CATSPERB	91261180	0.008000	0.16893	0.042000	0.18584	0.007000	0.05969	0.084000	0.14891	0.014000	0.14944	0.650000	0.86243	AAC			0.328	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411769.1		NM_024764		T	92191427	G	T	92191427	3	4	123	1	0	0	0	0	1	0	0	0	2693	1020	36	3	3285	3	CATSPERB	14	92191427	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		92191427	15158113	50	9201											
BCL11B	64919	hgsc.bcm.edu	37	chr14	99641568	99641568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcgtcctcctcctccggctc	0	13	3	25	2	0	0	0	0	0	0	13	0	11	0	11	1	0	1	11	1	0	0			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr14:99641568C>G	ENST00000357195.3	-	4	1614	c.1605G>C	c.(1603-1605)gaG>gaC	p.E535D	BCL11B_ENST00000443726.2_Missense_Mutation_p.E341D|BCL11B_ENST00000345514.2_Missense_Mutation_p.E464D	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	535	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)	p.E535_E536delEE(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cctcctcctcctcgtcctcct	0.697			T	TLX3	T-ALL																																p.E535D				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	BCL11B,colon,carcinoma,0,1	BCL11B	0	1	1	Deletion - In frame(1)	prostate(1)	c.G1605C												5	5	5					14																	99641568		2084	4070	6154	SO:0001583	missense	64919	exon4			CTCCTCCTCGTCC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1605G>C	14.37:g.99641568C>G	ENSP00000349723:p.Glu535Asp		10	0	0		16	0.13	2	NM_138576	0		0	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167616	0.38315	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.13657	2.57;2.6;2.57	3.81	0.863	0.19062	.	0.158674	0.40144	N	0.001176	T	0.07324	0.0185	N	0.22421	0.69	0.40982	D	0.984788	B;B	0.31413	0.322;0.185	B;B	0.31390	0.129;0.048	T	0.38394	-0.9663	10	0.30854	T	0.27	-8.4478	4.8239	0.13407	0.0:0.4986:0.1502:0.3512	.	464;535	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	D	535;464;341	ENSP00000349723:E535D;ENSP00000280435:E464D;ENSP00000387419:E341D	ENSP00000280435:E464D	E	-	3	2	BCL11B	98711321	0.591000	0.26824	0.998000	0.56505	0.990000	0.78478	-0.193000	0.09573	-0.059000	0.13154	0.561000	0.74099	GAG			0.697	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000072332.2		NM_138576		G	99641568	C	G	99641568	3	3	123	1	0	0	0	0	1	0	0	0	1364	680	24	5	1083	5	BCL11B	14	99641568	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	7450141	99641568	7707972	51	9202											
BEGAIN	57596	mdanderson.org	37	chr14	101005030	101005030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggccgccaccgcggccGtggccttggcaaagcgaggg	5	3	19	14	6	0	0	0	0	0	0	0	1	0	0	5	6	1	1	5	6	1	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr14:101005030G>A	ENST00000355173.2	-	7	1129	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.T353M|BEGAIN_ENST00000556751.1_Missense_Mutation_p.T289M	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	353						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CACCGCGGCCGTGGCCTTGGC	0.716																																					p.T353M	NSCLC(159;1889 2010 9965 27479 40101)												.	.			0			c.C1058T												20	17	18					14																	101005030		2119	4132	6251	SO:0001583	missense	57596	exon7			GCGGCCGTGGCCT	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1058C>T	14.37:g.101005030G>A	ENSP00000347301:p.Thr353Met		25	0	0		39	0.08	3	NM_020836	0		0	Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	4.037	0.004535	0.07866	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.17	2.17	0.27698	.	0.868280	0.10388	N	0.680710	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	P	0.38992	0.653	B	0.37480	0.251	T	0.07328	-1.0778	9	0.45353	T	0.12	.	6.057	0.19816	0.1025:0.0:0.4596:0.4378	.	353	Q9BUH8	BEGIN_HUMAN	M	353;289;353	.	ENSP00000347301:T353M	T	-	2	0	BEGAIN	100074783	0.011000	0.17503	0.086000	0.20670	0.043000	0.13939	1.724000	0.38064	1.881000	0.54492	0.462000	0.41574	ACG			0.716	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000414329.1		NM_020836		A	101005030	G	A	101005030	3	1	123	1	0	0	0	0	1	0	0	0	1397	1145	40	1	727	1	BEGAIN	14	101005030	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	1363462	101005030	6344510	52	9203											
THBS1	7057	mdanderson.org	37	chr15	39881513	39881513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcttcaccggctcacaGcccttcggccagggtgtcga	6	7	11	17	4	2	0	2	0	0	0	4	1	2	0	4	3	1	2	4	3	0	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr15:39881513G>T	ENST00000260356.5	+	12	2049	c.1884G>T	c.(1882-1884)caG>caT	p.Q628H		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	628					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)		CCGGCTCACAGCCCTTCGGCC	0.577																																					p.Q628H													.	.			0			c.G1884T												73	77	75					15																	39881513		2200	4297	6497	SO:0001583	missense	7057	exon12			CTCACAGCCCTTC		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.1884G>T	15.37:g.39881513G>T	ENSP00000260356:p.Gln628His		45	0	0		39	0.08	3	NM_003246	6	0	0	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.12|18.12	3.553742|3.553742	0.65425|0.65425	.|.	.|.	ENSG00000137801|ENSG00000137801	ENST00000260356|ENST00000397593	T|.	0.78707|.	-1.2|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Epidermal growth factor-like (1);|.	0.000000|.	0.34268|.	N|.	0.004111|.	T|T	0.78509|0.78509	0.4294|0.4294	M|M	0.74467|0.74467	2.265|2.265	0.50632|0.50632	D|D	0.999886|0.999886	D;P|.	0.63046|.	0.992;0.91|.	P;P|.	0.57911|.	0.829;0.503|.	T|T	0.80286|0.80286	-0.1446|-0.1446	10|6	0.22109|0.87932	T|D	0.4|0	-16.896|-16.896	19.6845|19.6845	0.95976|0.95976	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	543;628|.	B4E3J7;P07996|.	.;TSP1_HUMAN|.	H|I	628|62	ENSP00000260356:Q628H|.	ENSP00000260356:Q628H|ENSP00000380721:S62I	Q|S	+|+	3|2	2|0	THBS1|THBS1	37668805|37668805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.579000|0.579000	0.36224|0.36224	4.110000|4.110000	0.57831|0.57831	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	CAG|AGC			0.577	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257831.2		NM_003246		T	39881513	G	T	39881513	3	4	123	1	0	0	0	0	1	0	0	0	15876	962	34	2	1926	2	THBS1	15	39881513	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		39881513	62649879	53	9204											
LRRC57	255252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	42839488	42839488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggttgagttcgatgaCttgcagctctcccactgagt	7	13	12	9	1	1	4	0	4	1	0	3	5	1	4	1	1	2	5	1	1	0	4	rs548606804	byFrequency	TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr15:42839488C>T	ENST00000323443.2	-	3	830	c.463G>A	c.(463-465)Gtc>Atc	p.V155I	HAUS2_ENST00000568846.2_5'Flank|LRRC57_ENST00000563454.1_Missense_Mutation_p.V155I|LRRC57_ENST00000397130.3_Missense_Mutation_p.V155I|HAUS2_ENST00000568876.1_5'Flank|HAUS2_ENST00000260372.3_5'Flank			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	155						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		AGTTCGATGACTTGCAGCTCT	0.453													C|||	2	0.000399361	0	0	5008	,	,		20408	0.002		0	False		,,,				2504	0				p.V155I													.	.			0			c.G463A												99	87	91					15																	42839488		2203	4299	6502	SO:0001583	missense	255252	exon4			CGATGACTTGCAG	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.463G>A	15.37:g.42839488C>T	ENSP00000326817:p.Val155Ile		53	0	0		47	0.17	8	NM_153260	38	0.29	11	Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547070	0.45383	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.50277	0.75;0.75	5.2	5.2	0.72013	.	0.279885	0.39985	N	0.001210	T	0.43875	0.1267	L	0.43923	1.385	0.32738	N	0.50805	B	0.14438	0.01	B	0.09377	0.004	T	0.48258	-0.9051	10	0.34782	T	0.22	.	19.1136	0.93328	0.0:1.0:0.0:0.0	.	155	Q8N9N7	LRC57_HUMAN	I	155	ENSP00000326817:V155I;ENSP00000380319:V155I	ENSP00000326817:V155I	V	-	1	0	LRRC57	40626780	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	3.693000	0.54735	2.599000	0.87857	0.655000	0.94253	GTC			0.453	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253174.1		NM_153260		T	42839488	C	T	42839488	3	4	123	1	0	0	0	0	1	0	0	0	9029	565	20	3	268	3	LRRC57	15	42839488	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	2957975	42839488	59691904	54	9205											
DUOX2	50506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	45399065	45399065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagagcaatgatggtgatgGcaaaaccagggctgctgcct	12	7	14	8	0	0	3	0	2	0	1	0	4	0	3	2	3	4	4	2	3	3	0			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr15:45399065G>A	ENST00000603300.1	-	15	1998	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	DUOX2_ENST00000389039.6_Missense_Mutation_p.A599V	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	599					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)		GATGGTGATGGCAAAACCAGG	0.597																																					p.A599V													DUOX2,colon,carcinoma,-1,1	DUOX2	-1	1	0			c.C1796T												59	56	57					15																	45399065		2196	4297	6493	SO:0001583	missense	50506	exon15			GTGATGGCAAAAC	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.1796C>T	15.37:g.45399065G>A	ENSP00000475084:p.Ala599Val		113	0	0		128	0.2	26	NM_014080	0		0	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571103	0.28003	.	.	ENSG00000140279	ENST00000389039	.	.	.	4.99	4.07	0.47477	.	0.156244	0.56097	D	0.000032	T	0.27798	0.0684	N	0.14661	0.345	0.24273	N	0.995234	B;B	0.20887	0.015;0.049	B;B	0.19946	0.011;0.027	T	0.16276	-1.0408	9	0.38643	T	0.18	-13.4042	14.2565	0.66055	0.0:0.8429:0.1571:0.0	.	599;161	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	V	599	.	ENSP00000373691:A599V	A	-	2	0	DUOX2	43186357	0.997000	0.39634	0.998000	0.56505	0.518000	0.34316	3.555000	0.53727	1.091000	0.41335	-0.502000	0.04539	GCC			0.597	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_014080		A	45399065	G	A	45399065	3	1	123	1	0	0	0	0	1	0	0	0	4806	1203	42	2	2930	2	DUOX2	15	45399065	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	2559577	45399065	57132327	55	9206											
GOLGA6B	55889	mdanderson.org	37	chr15	72953691	72953691	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacgcacacgtgacacaGgtgaggctttgcagagggag	11	6	15	9	2	0	4	0	3	0	1	0	5	0	5	0	3	2	3	0	3	1	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr15:72953691G>T	ENST00000421285.3	+	8	651	c.651G>T	c.(649-651)caG>caT	p.Q217H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	217						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACGTGACACAGGTGAGGCTTT	0.592																																					p.Q217H													GOLGA6B,NS,carcinoma,+2,1	GOLGA6B	2	1	0			c.G651T												28	34	32					15																	72953691		1329	2409	3738	SO:0001630	splice_region_variant	55889	exon8			GACACAGGTGAGG		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.651+1G>T	15.37:g.72953691G>T			37	0	0		43	0.07	3	NM_018652	2	0	0	A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	11.53	1.667334	0.29604	.	.	ENSG00000215186	ENST00000421285	T	0.28069	1.63	0.39	0.39	0.16275	.	.	.	.	.	T	0.24812	0.0602	M	0.69523	2.12	0.80722	D	1	P	0.41498	0.752	B	0.32465	0.146	T	0.10520	-1.0626	9	0.46703	T	0.11	.	6.668	0.23052	2.0E-4:0.0:0.9998:0.0	.	217	A6NDN3	GOG6B_HUMAN	H	217	ENSP00000408132:Q217H	ENSP00000408132:Q217H	Q	+	3	2	GOLGA6B	70740745	1.000000	0.71417	0.053000	0.19242	0.049000	0.14656	1.646000	0.37249	0.472000	0.27344	0.134000	0.15878	CAG			0.592	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257474.4		NM_018652	Missense_Mutation	T	72953691	G	T	72953691	5	4	123	1	0	0	0	0	0	0	1	0	6572	1014	35	3	681	3	GOLGA6B	15	72953691	Splice_Site	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	27554626	72953691	29577701	56	9207											
MAN2A2	4122	hgsc.bcm.edu;mdanderson.org	37	chr15	91455346	91455346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcctggatgggcaccGcacgctgccctcctctgtgc	3	8	14	16	2	1	0	0	0	1	0	2	1	2	1	4	3	2	4	4	3	0	0	rs146996561		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr15:91455346G>A	ENST00000559717.1	+	15	2642	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R236H|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R728H|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	728					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGGGCACCGCACGCTGCCC	0.667																																					p.R728H													.	.			0			c.G2183A							G	HIS/ARG	0,4396		0,0,2198	63	60	61		2183	1.8	0.2	15	dbSNP_134	61	1,8595	1.2+/-3.3	0,1,4297	no	missense	MAN2A2	NM_006122.2	29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	728/1151	91455346	1,12991	2198	4298	6496	SO:0001583	missense	4122	exon14			GGCACCGCACGCT	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2183G>A	15.37:g.91455346G>A	ENSP00000452948:p.Arg728His		73	0	0		53	0.08	4	NM_006122	11	0	0	A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191580	0.38707	0.0	1.16E-4	ENSG00000196547	ENST00000360468;ENST00000431652	T;T	0.78816	-1.21;-1.21	5.29	1.83	0.25207	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.406531	0.30584	N	0.009317	T	0.69214	0.3086	M	0.64997	1.995	0.26295	N	0.978066	B;B;B	0.12013	0.005;0.0;0.002	B;B;B	0.16289	0.015;0.005;0.008	T	0.59241	-0.7491	10	0.45353	T	0.12	-12.6347	4.9597	0.14059	0.4073:0.1598:0.4329:0.0	.	236;356;728	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	728;236	ENSP00000353655:R728H;ENSP00000388221:R236H	ENSP00000353655:R728H	R	+	2	0	MAN2A2	89256350	0.455000	0.25736	0.154000	0.22540	0.974000	0.67602	0.748000	0.26305	0.080000	0.16959	0.456000	0.33151	CGC	0		0.667	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418246.5		NM_006122		A	91455346	G	A	91455346	3	1	123	1	0	0	0	0	1	0	0	0	9231	1087	38	1	2237	1	MAN2A2	15	91455346	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	18501655	91455346	11076046	57	9208											
MKL2	57496	mdanderson.org	37	chr16	14340783	14340783	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagacagtctgagtcccAccagcagcactctgtcaaac	13	7	8	13	0	3	3	1	2	2	1	4	3	4	3	2	0	3	2	2	0	2	0			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr16:14340783A>G	ENST00000341243.5	+	10	1633	c.1633A>G	c.(1633-1635)Acc>Gcc	p.T545A	MKL2_ENST00000571589.1_Missense_Mutation_p.T556A|MKL2_ENST00000574045.1_Missense_Mutation_p.T556A|MKL2_ENST00000318282.5_Missense_Mutation_p.T556A			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	545					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						TCTGAGTCCCACCAGCAGCAC	0.468																																					p.T556A													.	.			0			c.A1666G												60	58	59					16																	14340783		2197	4300	6497	SO:0001583	missense	57496	exon12			AGTCCCACCAGCA	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.1633A>G	16.37:g.14340783A>G	ENSP00000345841:p.Thr545Ala		46	0	0		43	0.07	3	NM_014048	4	0	0	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	A	0.512	-0.866192	0.02590	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.83	-0.72	0.11195	.	0.527316	0.21816	N	0.068686	T	0.20536	0.0494	L	0.33485	1.01	0.09310	N	0.999994	B;B	0.09022	0.002;0.001	B;B	0.09377	0.002;0.004	T	0.24512	-1.0158	9	0.06236	T	0.91	-12.8918	3.805	0.08773	0.5428:0.0:0.2167:0.2405	.	556;556	B4DGT8;Q9ULH7-4	.;.	A	556;545	.	ENSP00000339086:T556A	T	+	1	0	MKL2	14248284	0.000000	0.05858	0.789000	0.31954	0.304000	0.27724	0.473000	0.22132	-0.129000	0.11620	0.533000	0.62120	ACC			0.468	MKL2-202	KNOWN	basic	protein_coding	protein_coding				NM_014048		G	14340783	A	G	14340783	3	3	123	1	0	0	0	0	1	0	0	0	9618	159	6	4	1704	4	MKL2	16	14340783	Missense_Mutation	SNP	A	TCGA-XE-AAOF-01A-11D-A435-10		14340783	76013970	58	9209											
NUP88	4927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	5308484	5308484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagggtaagcagagtacagCacacgcatcataaccatagt	16	6	9	10	1	1	1	1	0	0	1	1	1	1	1	1	1	4	5	1	1	4	4			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr17:5308484C>T	ENST00000573584.1	-	6	1446	c.937G>A	c.(937-939)Gct>Act	p.A313T		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	313					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)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CAGAGTACAGCACACGCATCA	0.453																																					p.A313T													.	.			0			c.G937A												219	163	182					17																	5308484		2203	4300	6503	SO:0001583	missense	4927	exon6			GTACAGCACACGC	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.937G>A	17.37:g.5308484C>T	ENSP00000458954:p.Ala313Thr		67	0	0		65	0.12	8	NM_002532	38	0.24	9	D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341321	0.81911	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	T	0.47528	0.84	4.81	3.81	0.43845	.	0.114925	0.64402	D	0.000018	T	0.53965	0.1829	M	0.70595	2.14	0.58432	D	0.999994	D;D;P	0.57571	0.98;0.959;0.834	P;P;P	0.55577	0.779;0.718;0.57	T	0.57768	-0.7754	10	0.06365	T	0.9	-1.9037	11.7862	0.52043	0.0:0.9116:0.0:0.0884	.	313;182;313	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	T	313;182	ENSP00000225696:A313T	ENSP00000225696:A313T	A	-	1	0	NUP88	5249208	1.000000	0.71417	0.853000	0.33588	0.859000	0.49053	4.570000	0.60872	1.334000	0.45468	0.655000	0.94253	GCT			0.453	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216918.3		NM_002532		T	5308484	C	T	5308484	3	4	123	1	0	0	0	0	1	0	0	0	10788	710	25	2	1336	2	NUP88	17	5308484	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10		5308484	75886726	59	9210											
KRTAP1-1	81851	hgsc.bcm.edu;broad.mit.edu	37	chr17	39197304	39197304	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgggcggcaccacctgaTacgggtgctcacagctccac	7	7	12	15	2	2	1	1	1	1	0	3	1	3	1	3	3	3	3	3	3	1	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr17:39197304T>C	ENST00000306271.4	-	1	409	c.346A>G	c.(346-348)Atc>Gtc	p.I116V		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	116						keratin filament (GO:0045095)		p.I116V(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACCACCTGATACGGGTGCTC	0.662																																					p.I116V													KRTAP1-1,NS,malignant_melanoma,0,1	KRTAP1-1	0	1	1	Substitution - Missense(1)	NS(1)	c.A346G												22	27	25					17																	39197304		2019	4148	6167	SO:0001583	missense	81851	exon1			ACCTGATACGGGT	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.346A>G	17.37:g.39197304T>C	ENSP00000305975:p.Ile116Val		79	0.0126582278	1		73	0.04	3	NM_030967	0		0	A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	8.173	0.792133	0.16258	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.29655	1.56	4.28	-1.23	0.09465	.	.	.	.	.	T	0.12135	0.0295	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.20046	T	0.44	.	9.4726	0.38851	0.0:0.573:0.0:0.427	.	116	Q07627	KRA11_HUMAN	V	116;106	ENSP00000305975:I116V	ENSP00000305975:I116V	I	-	1	0	KRTAP1-1	36450830	0.132000	0.22450	0.024000	0.17045	0.516000	0.34256	0.017000	0.13399	-0.199000	0.10317	0.529000	0.55759	ATC			0.662	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257696.1		NM_030967		C	39197304	T	C	39197304	3	2	123	1	0	0	0	0	1	0	0	0	8517	1406	49	4	191	4	KRTAP1-1	17	39197304	Missense_Mutation	SNP	T	TCGA-XE-AAOF-01A-11D-A435-10	33888820	39197304	41997906	60	9211											
STAT3	6774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	40500474	40500474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagctgtcactgtagaGctgatggagctgctccaggt	8	10	15	8	0	1	2	1	1	0	1	2	4	2	4	1	3	4	5	1	3	2	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr17:40500474G>C	ENST00000264657.5	-	2	373	c.61C>G	c.(61-63)Ctc>Gtc	p.L21V	STAT3_ENST00000389272.3_Intron|STAT3_ENST00000404395.3_Missense_Mutation_p.L21V|STAT3_ENST00000585517.1_Missense_Mutation_p.L21V|STAT3_ENST00000588969.1_Missense_Mutation_p.L21V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	21					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|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)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCACTGTAGAGCTGATGGAGC	0.498									Hyperimmunoglobulin E Recurrent Infection Syndrome																												p.L21V													.	.			0			c.C61G												102	94	97					17																	40500474		2203	4300	6503	SO:0001583	missense	6774	exon2	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	TGTAGAGCTGATG	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.61C>G	17.37:g.40500474G>C	ENSP00000264657:p.Leu21Val		63	0	0		52	0.13	7	NM_003150	17	0.06	1	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920609	0.73213	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	T;T	0.60548	0.18;0.18	5.81	4.65	0.58169	STAT transcription factor, protein interaction (4);	0.000000	0.64402	D	0.000001	T	0.72787	0.3504	M	0.62209	1.925	0.48087	D	0.999589	D;D;D	0.57257	0.975;0.979;0.979	P;D;D	0.74023	0.904;0.982;0.982	T	0.74659	-0.3591	10	0.66056	D	0.02	-31.2948	15.7688	0.78149	0.0759:0.0:0.9241:0.0	.	21;21;21	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	V	21	ENSP00000264657:L21V;ENSP00000384943:L21V	ENSP00000264657:L21V	L	-	1	0	STAT3	37754000	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.184000	0.50926	2.750000	0.94351	0.655000	0.94253	CTC			0.498	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000319353.3		NM_139276, NM_003150		C	40500474	G	C	40500474	3	2	123	1	0	0	0	0	1	0	0	0	15289	971	34	5	2343	5	STAT3	17	40500474	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	1303170	40500474	40694736	61	9212											
CUEDC1	404093	mdanderson.org	37	chr17	55962728	55962728	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgcgcagcacgcattcGatgatgtcgtaatccatgtt	8	12	11	10	5	0	1	0	1	0	0	3	2	1	1	1	1	1	5	1	1	1	4			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr17:55962728G>T	ENST00000577830.1	-	2	611	c.198C>A	c.(196-198)atC>atA	p.I66I	CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000360238.2_Silent_p.I66I|CUEDC1_ENST00000407144.2_Silent_p.I66I	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	66	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GCACGCATTCGATGATGTCGT	0.632																																					p.I66I													.	.			0			c.C198A												64	65	65					17																	55962728		2203	4300	6503	SO:0001819	synonymous_variant	404093	exon2			GCATTCGATGATG	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.198C>A	17.37:g.55962728G>T			25	0	0		22	0.09	2	NM_001271875	0		0	D3DTZ2|Q9NWD0	Silent	SNP	ENST00000577830.1	37	CCDS11599.1																																																																																					0.632	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443305.1		NM_017949		T	55962728	G	T	55962728	2	4	123	1	0	0	0	0	0	0	0	1	4054	1048	37	1		1	CUEDC1	17	55962728	Silent	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	15462254	55962728	25232482	62	9213											
SF3A2	8175	mdanderson.org	37	chr19	2248153	2248153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtccaccccccagctcctGgagtccaccctccagccccc	5	5	8	23	0	0	0	0	0	0	0	4	1	4	1	10	2	2	1	10	2	0	0	rs539335935		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr19:2248153G>A	ENST00000221494.5	+	9	1421	c.1003G>A	c.(1003-1005)Gga>Aga	p.G335R	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	335	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGCTCCTGGAGTCCACCC	0.736													G|||	1	0.000199681	0	0.0014	5008	,	,		6143	0		0	False		,,,				2504	0				p.G335R													.	.			0			c.G1003A												2	3	3					19																	2248153		1638	3480	5118	SO:0001583	missense	8175	exon9			GCTCCTGGAGTCC	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1003G>A	19.37:g.2248153G>A	ENSP00000221494:p.Gly335Arg		20	0	0		18	0.11	2	NM_007165	301	0	0	B2RBU1|D6W605|O75245	Missense_Mutation	SNP	ENST00000221494.5	37	CCDS12084.1	.	.	.	.	.	.	.	.	.	.	G	9.346	1.064154	0.20067	.	.	ENSG00000104897	ENST00000221494	T	0.46819	0.86	4.89	2.31	0.28768	.	0.642391	0.13609	N	0.375252	T	0.31734	0.0806	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26395	-1.0104	10	0.72032	D	0.01	-0.3077	7.5928	0.28031	0.2711:0.0:0.7289:0.0	.	335	Q15428	SF3A2_HUMAN	R	335	ENSP00000221494:G335R	ENSP00000221494:G335R	G	+	1	0	SF3A2	2199153	0.064000	0.20934	0.020000	0.16555	0.011000	0.07611	2.293000	0.43558	0.874000	0.35823	0.563000	0.77884	GGA			0.736	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451268.3				A	2248153	G	A	2248153	3	1	123	1	0	0	0	0	1	0	0	0	14170	1349	47	3	1033	3	SF3A2	19	2248153	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		2248153	56880830	63	9214											
SLC5A5	6528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17988612	17988612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtggctctccatgtatgGcgtgaaccaggcgcaggtgc	6	9	16	10	2	1	1	0	1	1	0	2	1	1	1	2	5	2	3	2	5	2	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr19:17988612G>C	ENST00000222248.3	+	6	1126	c.779G>C	c.(778-780)gGc>gCc	p.G260A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	260					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						TCCATGTATGGCGTGAACCAG	0.597																																					p.G260A	Melanoma(65;1008 1708 7910 46650)												.	.			0			c.G779C												165	134	145					19																	17988612		2203	4300	6503	SO:0001583	missense	6528	exon6			TGTATGGCGTGAA		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.779G>C	19.37:g.17988612G>C	ENSP00000222248:p.Gly260Ala		97	0	0		100	0.22	22	NM_000453	4	0.5	2	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326067	0.60743	.	.	ENSG00000105641	ENST00000222248	D	0.97850	-4.57	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	L	0.41027	1.25	0.80722	D	1	P	0.50617	0.937	P	0.55303	0.773	D	0.96121	0.9085	10	0.30078	T	0.28	.	16.867	0.86032	0.0:0.0:1.0:0.0	.	260	Q92911	SC5A5_HUMAN	A	260	ENSP00000222248:G260A	ENSP00000222248:G260A	G	+	2	0	SLC5A5	17849612	1.000000	0.71417	0.153000	0.22517	0.261000	0.26267	7.635000	0.83286	2.675000	0.91044	0.555000	0.69702	GGC			0.597	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466690.1				C	17988612	G	C	17988612	3	2	123	1	0	0	0	0	1	0	0	0	14691	1203	42	5	801	5	SLC5A5	19	17988612	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10	15740459	17988612	41140371	64	9215											
CAPNS1	826	broad.mit.edu	37	chr19	36631958	36631958	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcggcggcggcggcggCgggggaggcgggggcctggg	3	1	28	9	7	0	0	0	0	0	0	0	1	0	1	1	12	0	0	1	12	1	0	rs567500165		TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr19:36631958C>G	ENST00000246533.3	+	2	643	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcgggggaggcg	0.736													C|||	1	0.000199681	0	0	5008	,	,		3971	0.001		0	False		,,,				2504	0				p.G15G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C45G												6	7	7					19																	36631958		1958	3947	5905	SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGGGGA	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.45C>G	19.37:g.36631958C>G			67	0	0		73	0.05	4	NM_001749	4	0	0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.736	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				G	36631958	C	G	36631958	2	3	123	1	0	0	0	0	0	0	0	1	2635	755	27	5		5	CAPNS1	19	36631958	Silent	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	18643346	36631958	22497025	65	9216											
TMX4	56255	mdanderson.org	37	chr20	8000229	8000229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcggccaggagcgccGttagctgcgggccgcagcgc	5	4	17	15	6	0	0	0	0	0	0	1	1	1	1	4	4	4	3	4	4	1	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr20:8000229G>T	ENST00000246024.2	-	1	247	c.32C>A	c.(31-33)aCg>aAg	p.T11K	RP5-971N18.3_ENST00000607924.1_RNA|RP5-971N18.3_ENST00000457707.1_RNA	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	11					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CAGGAGCGCCGTTAGCTGCGG	0.781																																					p.T11K													.	.			0			c.C32A												2	2	2					20																	8000229		1269	2802	4071	SO:0001583	missense	56255	exon1			AGCGCCGTTAGCT		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.32C>A	20.37:g.8000229G>T	ENSP00000246024:p.Thr11Lys		13	0	0		22	0.14	3	NM_021156	3	0	0	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698229	0.48307	.	.	ENSG00000125827	ENST00000246024;ENST00000527925	T;T	0.17213	2.93;2.29	4.91	0.378	0.16204	.	1.042650	0.07565	N	0.917582	T	0.06962	0.0177	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	10	0.12766	T	0.61	0.0868	3.3212	0.07050	0.14:0.2516:0.4798:0.1286	.	11	Q9H1E5	TMX4_HUMAN	K	11	ENSP00000246024:T11K;ENSP00000435735:T11K	ENSP00000246024:T11K	T	-	2	0	TMX4	7948229	0.154000	0.22792	0.003000	0.11579	0.139000	0.21198	0.500000	0.22562	0.083000	0.17047	-0.302000	0.09304	ACG			0.781	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000077928.2		NM_021156		T	8000229	G	T	8000229	3	4	123	1	0	0	0	0	1	0	0	0	16292	1145	40	1	1049	1	TMX4	20	8000229	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		8000229	55025291	66	9217											
PIGT	51604	mdanderson.org	37	chr20	44045270	44045270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggacccgatactgggggCcacccttcctgcaggcccca	7	5	13	16	1	0	0	0	0	0	0	1	3	1	2	6	5	2	1	6	5	1	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr20:44045270C>T	ENST00000279036.6	+	2	381	c.301C>T	c.(301-303)Cca>Tca	p.P101S	PIGT_ENST00000372689.5_Missense_Mutation_p.P101S|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000543458.2_Missense_Mutation_p.P101S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	101					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ATACTGGGGGCCACCCTTCCT	0.587																																					p.P101S													.	.			0			c.C301T												45	41	43					20																	44045270		2203	4300	6503	SO:0001583	missense	51604	exon2			TGGGGGCCACCCT		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.301C>T	20.37:g.44045270C>T	ENSP00000279036:p.Pro101Ser		59	0	0		49	0.06	3	NM_001184729	58	0	0	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685634	0.29962	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279036	T;T;T	0.38560	1.13;1.13;1.13	5.94	1.71	0.24356	.	0.450892	0.25810	N	0.028159	T	0.17534	0.0421	N	0.04994	-0.135	0.80722	D	1	B;B;B	0.18013	0.0;0.001;0.025	B;B;B	0.22152	0.004;0.001;0.038	T	0.05370	-1.0889	10	0.21014	T	0.42	0.0528	4.5797	0.12253	0.1325:0.6159:0.1159:0.1358	.	101;101;101	B7Z3N1;B7Z7C5;Q969N2	.;.;PIGT_HUMAN	S	101	ENSP00000441577:P101S;ENSP00000361774:P101S;ENSP00000279036:P101S	ENSP00000279036:P101S	P	+	1	0	PIGT	43478684	0.999000	0.42202	0.455000	0.27031	0.940000	0.58332	2.467000	0.45093	0.080000	0.16959	0.557000	0.71058	CCA			0.587	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079434.2		NM_015937		T	44045270	C	T	44045270	3	4	123	1	0	0	0	0	1	0	0	0	11916	739	26	2	307	2	PIGT	20	44045270	Missense_Mutation	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	36045041	44045270	18980250	67	9218											
TNFRSF6B	8771	mdanderson.org	37	chr20	62328829	62328829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcttcctcccatgacacCctgtgcaccagctgcactgg	6	9	9	17	0	1	1	0	1	1	0	3	1	3	1	4	2	3	4	4	2	0	1	rs1291205	byFrequency	TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr20:62328829C>T	ENST00000369996.1	+	2	673	c.573C>T	c.(571-573)acC>acT	p.T191T	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	191					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCCATGACACCCTGTGCACCA	0.672																																					p.T191T													TNFRSF6B,caecum,carcinoma,0,1	TNFRSF6B	0	1	0			c.C573T												29	21	24					20																	62328829		2164	4269	6433	SO:0001819	synonymous_variant	8771	exon2			TGACACCCTGTGC	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.573C>T	20.37:g.62328829C>T			59	0	0		59	0.05	3	NM_003823	36	0	0		Silent	SNP	ENST00000369996.1	37	CCDS13532.1																																																																																					0.672	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080182.1				T	62328829	C	T	62328829	2	4	123	1	0	0	0	0	0	0	0	1	16321	610	22	3		3	TNFRSF6B	20	62328829	Silent	SNP	C	TCGA-XE-AAOF-01A-11D-A435-10	18283559	62328829	696691	68	9219											
MCM3AP	8888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	47700450	47700450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagatagccatgtctttatGcaaacttttccccttctttc	10	16	4	11	0	2	1	0	0	2	1	4	1	3	1	3	0	3	1	3	0	4	7			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr21:47700450G>C	ENST00000397708.1	-	4	1737	c.1483C>G	c.(1483-1485)Cat>Gat	p.H495D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.H495D			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	495	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATGTCTTTATGCAAACTTTTC	0.348																																					p.H495D													.	.			0			c.C1483G												74	79	77					21																	47700450		2203	4300	6503	SO:0001583	missense	8888	exon3			CTTTATGCAAACT	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1483C>G	21.37:g.47700450G>C	ENSP00000380820:p.His495Asp		339	0	0		441	0.12	51	NM_003906	6	0.17	1	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626758	0.66901	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03524	3.9;3.9	5.32	5.32	0.75619	.	0.296155	0.40385	N	0.001113	T	0.06280	0.0162	M	0.62723	1.935	0.40295	D	0.97854	P	0.41041	0.736	B	0.35550	0.205	T	0.27839	-1.0062	10	0.45353	T	0.12	-9.5776	16.7618	0.85514	0.0:0.0:1.0:0.0	.	495	O60318	MCM3A_HUMAN	D	495	ENSP00000380820:H495D;ENSP00000291688:H495D	ENSP00000291688:H495D	H	-	1	0	MCM3AP	46524878	0.993000	0.37304	0.963000	0.40424	0.991000	0.79684	2.473000	0.45145	2.495000	0.84180	0.591000	0.81541	CAT			0.348	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207254.1		NM_003906		C	47700450	G	C	47700450	3	2	123	1	0	0	0	0	1	0	0	0	9404	1319	46	5	4563	5	MCM3AP	21	47700450	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		47700450	429445	69	9220											
MIF	0	mdanderson.org	37	chr22	24237063	24237063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggcaagatcggcggcgcGcagaaccgctcctacagcaa	11	4	12	14	6	0	2	0	0	0	2	3	2	1	2	2	3	3	4	2	3	4	1			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chr22:24237063G>T	ENST00000433835.3	+	5	536	c.536G>T	c.(535-537)cGc>cTc	p.R179L	AP000350.4_ENST00000406213.1_3'UTR|MIF_ENST00000215754.7_Silent_p.A71A																							TCGGCGGCGCGCAGAACCGCT	0.726																																					p.A71A													.	.			0			c.G213T																																									SO:0001583	missense	4282	exon2			CGGCGCGCAGAAC																												ENST00000433835.3:c.536G>T	22.37:g.24237063G>T	ENSP00000400325:p.Arg179Leu		9	0	0		15	0.13	2	NM_002415	1519	0	0		Silent	SNP	ENST00000433835.3	37																																																																																						0.726	AP000350.10-005	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding		OTTHUMT00000334403.3				T	24237063	G	T	24237063	3	4	123	1	0	0	0	0	1	0	0	0	9599	1074	38	1	219	1	MIF	22	24237063	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		24237063	27067503	70	9221											
GDPD2	54857	mdanderson.org	37	chrX	69647059	69647059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgtgtttgagactgatGtgatggtcaggtgagggaag	9	12	16	4	0	1	4	1	4	0	1	1	6	1	5	0	3	1	1	0	3	2	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chrX:69647059G>T	ENST00000374382.3	+	9	1026	c.775G>T	c.(775-777)Gtg>Ttg	p.V259L	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.V259L|GDPD2_ENST00000536730.1_Missense_Mutation_p.V180L|GDPD2_ENST00000538649.1_Missense_Mutation_p.V180L	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	259	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TGAGACTGATGTGATGGTCAG	0.577																																					p.V259L													.	.			0			c.G775T												92	76	82					X																	69647059		2203	4300	6503	SO:0001583	missense	54857	exon9			ACTGATGTGATGG	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.775G>T	X.37:g.69647059G>T	ENSP00000363503:p.Val259Leu		35	0	0		44	0.07	3	NM_001171192	46	0	0	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269035	0.80469	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.35	5.35	0.76521	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.64402	D	0.000001	T	0.42314	0.1197	L	0.52905	1.665	0.44719	D	0.997712	D;D;P;P	0.89917	1.0;0.988;0.93;0.91	D;P;P;P	0.85130	0.997;0.884;0.893;0.508	T	0.08472	-1.0720	9	.	.	.	-16.4712	16.4918	0.84203	0.0:0.0:1.0:0.0	.	259;45;180;259	B4DVC9;B3KUI6;B4DRH4;Q9HCC8	.;.;.;GDPD2_HUMAN	L	259;180;180;259	ENSP00000414019:V259L;ENSP00000445982:V180L;ENSP00000444601:V180L;ENSP00000363503:V259L	.	V	+	1	0	GDPD2	69563784	1.000000	0.71417	0.996000	0.52242	0.750000	0.42670	6.850000	0.75420	2.464000	0.83262	0.600000	0.82982	GTG			0.577	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057070.1		NM_017711		T	69647059	G	T	69647059	3	4	123	1	0	0	0	0	1	0	0	0	6338	1377	48	3	805	3	GDPD2	23	69647059	Missense_Mutation	SNP	G	TCGA-XE-AAOF-01A-11D-A435-10		69647059	85623501	71	9222											
COL4A6	1288	broad.mit.edu	37	chrX	107430450	107430450	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggtggaccaggatggccTttttcaccaggaagtccagg	9	8	13	11	0	1	0	1	0	0	0	2	3	2	3	5	6	0	0	5	6	1	2			TCGA-XE-AAOF-01A-11D-A435-10	TCGA-XE-AAOF-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2135c99-4713-45f2-a010-698436b06fd4	38ca9ea0-821a-4a17-bb22-6e3b0e5743c0	g.chrX:107430450T>C	ENST00000372216.4	-	23	1930	c.1830A>G	c.(1828-1830)aaA>aaG	p.K610K	COL4A6_ENST00000545689.1_Silent_p.K609K|COL4A6_ENST00000334504.7_Silent_p.K609K|COL4A6_ENST00000394872.2_Silent_p.K610K|COL4A6_ENST00000538570.1_Silent_p.K609K	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	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						CAGGATGGCCTTTTTCACCAG	0.512									Alport syndrome with Diffuse Leiomyomatosis																												p.K610K	Melanoma(87;1895 1945 2589 7165)												.	COL4A6	270		0			c.A1830G												127	118	121					X																	107430450		2203	4300	6503	SO:0001819	synonymous_variant	1288	exon23	Familial Cancer Database		ATGGCCTTTTTCA	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.1830A>G	X.37:g.107430450T>C			84	0	0		86	0.03	3	NM_001847	3	0	0	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																					0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057875.2				C	107430450	T	C	107430450	2	2	123	1	0	0	0	0	0	0	0	1	3697	1606	56	4		4	COL4A6	23	107430450	Silent	SNP	T	TCGA-XE-AAOF-01A-11D-A435-10	37783391	107430450	47840110	72	9223											
AGRN	375790	mdanderson.org	37	chr1	979025	979025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccgtgtgtggctccgacGggcacacgtaccccagcgag	7	5	14	15	5	0	0	0	0	0	0	1	2	1	0	4	2	3	3	4	2	1	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:979025G>T	ENST00000379370.2	+	9	1761	c.1711G>T	c.(1711-1713)Ggg>Tgg	p.G571W		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	571	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGGCTCCGACGGGCACACGTA	0.687																																					p.G571W													.	.			0			c.G1711T												64	66	66					1																	979025		2203	4297	6500	SO:0001583	missense	375790	exon9			TCCGACGGGCACA	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1711G>T	1.37:g.979025G>T	ENSP00000368678:p.Gly571Trp		23	0	0		17	0.12	2	NM_198576	27	0	0	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720296	0.48728	.	.	ENSG00000188157	ENST00000379370	T	0.79940	-1.32	4.17	4.17	0.49024	Proteinase inhibitor I1, Kazal (2);	0.000000	0.64402	D	0.000002	D	0.93595	0.7955	H	0.98155	4.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96351	0.9258	10	0.87932	D	0	-27.2607	16.8485	0.85987	0.0:0.0:1.0:0.0	.	571	O00468	AGRIN_HUMAN	W	571	ENSP00000368678:G571W	ENSP00000368678:G571W	G	+	1	0	AGRN	968888	1.000000	0.71417	0.954000	0.39281	0.043000	0.13939	5.010000	0.64004	2.032000	0.59987	0.655000	0.94253	GGG			0.687	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097990.2		NM_198576		T	979025	G	T	979025	3	4	124	1	0	0	0	0	1	0	0	0	397	1116	39	1	1745	1	AGRN	1	979025	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		979025	248271596	1	9224											
SRRM1	10250	broad.mit.edu	37	chr1	24996016	24996016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaagaaggcagtccccGtctccaagtactaggcccat	11	6	8	16	1	1	1	0	0	1	1	3	1	2	1	6	2	1	2	6	2	5	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:24996016G>A	ENST00000323848.9	+	14	2457	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	SRRM1_ENST00000374389.4_Silent_p.P723P|SRRM1_ENST00000447431.2_Silent_p.P726P|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	714	Arg-rich.|Pro-rich.|Ser-rich.				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)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GGCAGTCCCCGTCTCCAAGTA	0.498																																					p.P714P	Ovarian(68;897 1494 3282 17478)												.	SRRM1	81		0			c.G2142A												38	37	37					1																	24996016		2203	4297	6500	SO:0001819	synonymous_variant	10250	exon14			GTCCCCGTCTCCA	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2142G>A	1.37:g.24996016G>A			201	0	0		233	0.03	6	NM_005839	104	0.03	3	O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	CCDS255.1																																																																																					0.498	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009292.2		NM_005839		A	24996016	G	A	24996016	2	1	124	1	0	0	0	0	0	0	0	1	15191	1132	40	1		1	SRRM1	1	24996016	Silent	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	24016991	24996016	224254605	2	9225											
SCMH1	22955	mdanderson.org	37	chr1	41514364	41514364	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccaaagtgtgcttacctGagataacctcaccaccatgg	12	8	9	12	0	1	1	1	1	0	1	1	3	1	1	5	1	4	1	5	1	3	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:41514364G>T	ENST00000326197.7	-	10	1573	c.1274C>A	c.(1273-1275)tCa>tAa	p.S425*	SCMH1_ENST00000402904.2_Nonsense_Mutation_p.S425*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.S405*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.S364*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.S364*|SCMH1_ENST00000456518.2_Nonsense_Mutation_p.S267*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.S435*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.S378*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.S378*|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.S364*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.S364*					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)				GTGCTTACCTGAGATAACCTC	0.512																																					p.S435X													.	.			0			c.C1304A												183	158	166					1																	41514364		2203	4300	6503	SO:0001587	stop_gained	22955	exon11			TTACCTGAGATAA	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.1274C>A	1.37:g.41514364G>T	ENSP00000318094:p.Ser425*		37	0	0		48	0.06	3	NM_001172219	47	0	0		Nonsense_Mutation	SNP	ENST00000326197.7	37	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	43	10.138708	0.99345	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	.	.	.	6.07	6.07	0.98685	.	0.083283	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	.	.	.	X	378;267;425;405;364;364;378;364;435;364;425	.	ENSP00000318094:S425X	S	-	2	0	SCMH1	41286951	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.203000	0.65174	2.885000	0.99019	0.655000	0.94253	TCA			0.512	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000015656.1				T	41514364	G	T	41514364	4	4	124	1	0	0	0	0	0	1	0	0	13931	1294	45	3	732	3	SCMH1	1	41514364	Nonsense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	16518348	41514364	207736257	3	9226											
DOCK7	85440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	62979205	62979205	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctcccaagaatagcttCttcaagctttgctctcatgt	9	15	6	11	0	3	1	2	0	2	1	5	1	4	1	1	0	4	4	1	0	5	5			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:62979205C>A	ENST00000340370.5	-	32	4116	c.4099G>T	c.(4099-4101)Gaa>Taa	p.E1367*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.E1398*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1398					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						AGAATAGCTTCTTCAAGCTTT	0.423																																					p.E1398X													.	.			0			c.G4192T												113	105	108					1																	62979205		2203	4300	6503	SO:0001587	stop_gained	85440	exon33			TAGCTTCTTCAAG		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.4099G>T	1.37:g.62979205C>A	ENSP00000340742:p.Glu1367*		126	0	0		113	0.29	33	NM_001271999	12	0.33	4	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.862938|10.862938	0.99479|0.99479	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79610	.|0.4475	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77824	.|-0.2444	.|3	0.72032|.	D|.	0.01|.	.|.	19.6914|19.6914	0.96002|0.96002	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1398;1398;1367;137|569	.|.	ENSP00000251157:E1398X|.	E|R	-|-	1|2	0|0	DOCK7|DOCK7	62751793|62751793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.644000|2.644000	0.89710|0.89710	0.563000|0.563000	0.77884|0.77884	GAA|AGA			0.423	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036806.1		NM_033407		A	62979205	C	A	62979205	4	1	124	1	0	0	0	0	0	1	0	0	4697	922	32	3	2302	3	DOCK7	1	62979205	Nonsense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	21464841	62979205	186271416	4	9227											
LRRC7	57554	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	70504317	70504317	+	Frame_Shift_Del	DEL	C	C	-																															accatgggagtatcatgattCcaatcccaacaggagtctta																										TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:70504317delC	ENST00000035383.5	+	19	2726	c.2696delC	c.(2695-2697)tccfs	p.S899fs	LRRC7_ENST00000310961.5_Frame_Shift_Del_p.S904fs|LRRC7_ENST00000415775.2_Frame_Shift_Del_p.S183fs	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	899						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						TATCATGATTCCAATCCCAAC	0.428																																					p.S899fs													.	LRRC7	400		0			c.2695delT												67	66	67					1																	70504317		2203	4300	6503	SO:0001589	frameshift_variant	57554	exon19			ATGATTCCAATCC		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.2696delC	1.37:g.70504317delC	ENSP00000035383:p.Ser899fs		139	0	0		147	0.33	49	NM_020794	2	0	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Frame_Shift_Del	DEL	ENST00000035383.5	37	CCDS645.1																																																																																					0.428	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131261.1		NM_020794		-	70504317	C	-	70504317	7	5	124	1	0	1	0	1	0	0	0	0	9036	855	30	0	2770	0	LRRC7	1	70504317	Frame_Shift_Del	DEL	C	TCGA-XE-AAOJ-01A-12D-A435-10	7525112	70504317	178746304	5	9228											
HAPLN2	60484	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	156595122	156595122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagtgcgcagtttcggCttccccaggccccaacaggc	6	6	12	17	3	0	0	0	0	0	0	2	1	1	1	5	4	2	3	5	4	1	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:156595122C>T	ENST00000255039.1	+	7	1376	c.969C>T	c.(967-969)ggC>ggT	p.G323G	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	323	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGTTTCGGCTTCCCCAGGC	0.697																																					p.G323G													.	.			0			c.C969T												8	9	9					1																	156595122		2175	4251	6426	SO:0001819	synonymous_variant	60484	exon7			TTTCGGCTTCCCC	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.969C>T	1.37:g.156595122C>T			116	0	0		111	0.39	43	NM_021817	0		0	Q5T3J0	Silent	SNP	ENST00000255039.1	37	CCDS1148.1																																																																																					0.697	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000081039.1		NM_021817		T	156595122	C	T	156595122	2	4	124	1	0	0	0	0	0	0	0	1	6970	784	28	2		2	HAPLN2	1	156595122	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	86090805	156595122	92655499	6	9229											
NLRC4	58484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	32476309	32476309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtttcaaaaagtccaccctgGgccctgctgagacggaggaa	11	7	12	11	1	1	1	1	1	0	1	2	4	2	3	3	3	1	2	3	3	3	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr2:32476309G>T	ENST00000404025.2	-	5	1112	c.624C>A	c.(622-624)gcC>gcA	p.A208A	NLRC4_ENST00000402280.1_Silent_p.A208A|NLRC4_ENST00000360906.5_Silent_p.A208A|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	208	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)					GTCCACCCTGGGCCCTGCTGA	0.537																																					p.A208A													.	.			0			c.C624A												61	64	63					2																	32476309		2203	4300	6503	SO:0001819	synonymous_variant	58484	exon4			ACCCTGGGCCCTG	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.624C>A	2.37:g.32476309G>T			92	0	0		113	0.31	35	NM_001199138	1	1	1	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	CCDS33174.1																																																																																					0.537	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325222.2		NM_021209		T	32476309	G	T	32476309	2	4	124	1	0	0	0	0	0	0	0	1	10486	1219	43	3		3	NLRC4	2	32476309	Silent	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		32476309	210723064	7	9230											
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	84852104	84852104	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctgctggcactgggAaaacagagactaccaaagat	13	7	11	10	0	0	2	0	0	0	2	1	4	1	3	2	3	3	2	2	3	4	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr2:84852104A>C	ENST00000237449.6	+	28	4440	c.4432A>C	c.(4432-4434)Aaa>Caa	p.K1478Q	DNAH6_ENST00000398278.2_Missense_Mutation_p.K1478Q|DNAH6_ENST00000389394.3_Missense_Mutation_p.K1478Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1478	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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						TGGCACTGGGAAAACAGAGAC	0.488																																					p.K1478Q													.	.			0			c.A4432C												93	86	89					2																	84852104		692	1591	2283	SO:0001583	missense	1768	exon29			ACTGGGAAAACAG	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.4432A>C	2.37:g.84852104A>C	ENSP00000237449:p.Lys1478Gln		170	0	0		174	0.3	53	NM_001370	0		0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.749807	0.89753	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	D;D;D	0.85773	-2.03;-2.03;-2.03	5.73	5.73	0.89815	ATPase, AAA+ type, core (1);	.	.	.	.	D	0.95865	0.8654	H	0.99143	4.445	0.50313	D	0.999861	D	0.89917	1.0	D	0.97110	1.0	D	0.97665	1.0163	9	0.87932	D	0	.	14.9998	0.71462	1.0:0.0:0.0:0.0	.	1478	Q9C0G6	DYH6_HUMAN	Q	1478	ENSP00000374045:K1478Q;ENSP00000381326:K1478Q;ENSP00000237449:K1478Q	ENSP00000237449:K1478Q	K	+	1	0	DNAH6	84705615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.063000	0.93927	2.181000	0.69327	0.533000	0.62120	AAA			0.488	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328537.2		NM_001370		C	84852104	A	C	84852104	3	2	124	1	0	0	0	0	1	0	0	0	4610	247	9	4	4542	4	DNAH6	2	84852104	Missense_Mutation	SNP	A	TCGA-XE-AAOJ-01A-12D-A435-10	52375795	84852104	158347269	8	9231											
TRIM43	129868	broad.mit.edu	37	chr2	96261953	96261953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatatccctacagggcAatgtggttttacgggcacag	11	11	10	9	1	1	0	1	0	0	0	2	0	2	0	1	3	2	3	1	3	5	5	rs200030895		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr2:96261953A>G	ENST00000272395.2	+	4	647	c.511A>G	c.(511-513)Aat>Gat	p.N171D		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	171						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCTACAGGGCAATGTGGTTTT	0.423																																					p.N171D													.	TRIM43	51		0			c.A511G												68	63	65					2																	96261953		2190	4293	6483	SO:0001583	missense	129868	exon4			CAGGGCAATGTGG	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.511A>G	2.37:g.96261953A>G	ENSP00000272395:p.Asn171Asp		251	0	0		283	0.06	17	NM_138800	0		0	Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	4.895	0.166249	0.09339	.	.	ENSG00000144015	ENST00000272395	T	0.04317	3.65	1.4	-1.35	0.09114	.	.	.	.	.	T	0.01523	0.0049	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45789	-0.9237	9	0.19147	T	0.46	1.3668	0.091	0.00039	0.2447:0.187:0.2522:0.3161	.	171	Q96BQ3	TRI43_HUMAN	D	171	ENSP00000272395:N171D	ENSP00000272395:N171D	N	+	1	0	TRIM43	95625680	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.734000	0.00803	-0.918000	0.03808	-2.760000	0.00122	AAT			0.423	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252784.1		NM_138800		G	96261953	A	G	96261953	3	3	124	1	0	0	0	0	1	0	0	0	16542	130	5	4	521	4	TRIM43	2	96261953	Missense_Mutation	SNP	A	TCGA-XE-AAOJ-01A-12D-A435-10	11409849	96261953	146937420	9	9232											
HDAC4	9759	mdanderson.org	37	chr2	240111669	240111669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcagctgctgctcccGcagggccggctctgccacag	4	7	13	17	2	1	0	0	0	1	0	2	0	2	0	3	2	6	7	3	2	0	0	rs376138478		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr2:240111669G>A	ENST00000345617.3	-	4	990	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	HDAC4_ENST00000541256.1_Missense_Mutation_p.R36W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	67					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|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)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGCTGCTCCCGCAGGGCCGGC	0.662																																					p.R67W													.	.			0			c.C199T							G	TRP/ARG	0,4402		0,0,2201	24	25	25		199	4.4	0.9	2		25	1,8585		0,1,4292	no	missense	HDAC4	NM_006037.3	101	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	67/1085	240111669	1,12987	2201	4293	6494	SO:0001583	missense	9759	exon4			GCTCCCGCAGGGC	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.199C>T	2.37:g.240111669G>A	ENSP00000264606:p.Arg67Trp		27	0	0		28	0.11	3	NM_006037	0		0	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291318	0.59976	0.0	1.16E-4	ENSG00000068024	ENST00000345617;ENST00000541256;ENST00000454542;ENST00000446876	T;T;T;T	0.60797	0.16;1.33;0.8;0.76	4.42	4.42	0.53409	Histone deacetylase, glutamine rich N-terminal domain (1);	0.428985	0.22918	N	0.054055	T	0.62514	0.2434	L	0.31476	0.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;P;D;D;D	0.74348	0.983;0.806;0.916;0.916;0.916	T	0.59648	-0.7415	9	.	.	.	.	12.522	0.56065	0.0:0.0:0.8332:0.1668	.	62;36;36;35;67	B7Z8G5;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;HDAC4_HUMAN	W	67;36;36;40	ENSP00000264606:R67W;ENSP00000443057:R36W;ENSP00000405226:R36W;ENSP00000392912:R40W	.	R	-	1	2	HDAC4	239776606	0.995000	0.38212	0.925000	0.36789	0.339000	0.28857	5.053000	0.64269	2.207000	0.71202	0.655000	0.94253	CGG			0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257174.2		NM_006037		A	240111669	G	A	240111669	3	1	124	1	0	0	0	0	1	0	0	0	7024	1086	38	1	3151	1	HDAC4	2	240111669	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	143849716	240111669	3087704	10	9233											
FANCD2	2177	ucsc.edu	37	chr3	10091153	10091153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctagagttggtagtgttaaaCccatctgctatgatgatgaa	12	13	10	6	0	1	4	0	3	1	1	1	4	1	4	1	1	2	4	1	1	6	5	rs35652360	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr3:10091153C>T	ENST00000419585.1	+	17	1670	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	FANCD2_ENST00000383807.1_Silent_p.N503N|FANCD2_ENST00000287647.3_Silent_p.N503N|FANCD2_ENST00000383806.1_Silent_p.N503N			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	503					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)		TAGTGTTAAACCCATCTGCTA	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.N503N			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	.	FANCD2	253		0			c.C1509T												237	256	249					3																	10091153		2201	4296	6497	SO:0001819	synonymous_variant	2177	exon17	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GTTAAACCCATCT	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.1509C>T	3.37:g.10091153C>T			53	0.2264150943	12		57	0.28	16	NM_001018115	1	0	0	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																					0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339873.1				T	10091153	C	T	10091153	2	4	124	1	0	0	0	0	0	0	0	1	5678	506	18	3		3	FANCD2	3	10091153	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10		10091153	187931277	11	9234											
SLC26A6	65010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	48663665	48663665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcaccgaaacagggctgtCggggacaggcctcgggtgtt	7	7	16	11	3	1	0	1	0	0	0	3	2	1	1	2	5	1	3	2	5	1	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr3:48663665C>T	ENST00000395550.2	-	20	2298	c.2251G>A	c.(2251-2253)Gac>Aac	p.D751N	SLC26A6_ENST00000383733.3_Missense_Mutation_p.D732N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D643N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D750N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D715N|SLC26A6_ENST00000358747.6_Missense_Mutation_p.D730N			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	751					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)		ACAGGGCTGTCGGGGACAGGC	0.562																																					p.D751N	NSCLC(13;369 479 28271 30152 44026)												.	.			0			c.G2251A												72	80	77					3																	48663665		2023	4176	6199	SO:0001583	missense	65010	exon20			GGCTGTCGGGGAC	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.2251G>A	3.37:g.48663665C>T	ENSP00000378920:p.Asp751Asn		100	0	0		118	0.31	37	NM_022911	74	0.31	23	B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043552	0.19748	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.92545	-2.93;-2.93;-3.04;-2.94;-2.94;-3.06	5.74	-3.72	0.04411	.	.	.	.	.	D	0.82435	0.5036	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B;B;B	0.29671	0.053;0.254;0.088;0.008;0.005;0.002;0.063	B;B;B;B;B;B;B	0.17098	0.005;0.017;0.012;0.002;0.001;0.001;0.011	T	0.66559	-0.5893	9	0.44086	T	0.13	.	12.8012	0.57586	0.0:0.4887:0.0:0.5113	.	715;745;643;732;750;751;4137	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	N	750;751;732;643;745;730;715	ENSP00000404684:D750N;ENSP00000378920:D751N;ENSP00000373239:D732N;ENSP00000337648:D643N;ENSP00000351597:D730N;ENSP00000401066:D715N	ENSP00000337648:D643N	D	-	1	0	SLC26A6	48638669	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.618000	0.05578	-0.524000	0.06400	-0.229000	0.12294	GAC			0.562	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000345040.1		NM_022911		T	48663665	C	T	48663665	3	4	124	1	0	0	0	0	1	0	0	0	14544	884	31	1	36	1	SLC26A6	3	48663665	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	38572512	48663665	149358765	12	9235											
MFSD7	84179	mdanderson.org	37	chr4	675970	675970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcactccggagtcgccGtgctgggccccaggacccca	5	5	13	18	4	0	0	0	0	0	0	2	2	1	2	7	3	2	2	7	3	0	0			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:675970G>T	ENST00000404286.2	-	10	1475	c.1460C>A	c.(1459-1461)aCg>aAg	p.T487K	MFSD7_ENST00000347950.5_Missense_Mutation_p.T368K|MFSD7_ENST00000515118.1_Missense_Mutation_p.T390K|MFSD7_ENST00000503156.1_Silent_p.R409R|MFSD7_ENST00000322224.4_Missense_Mutation_p.T486K	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	487					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						CGGAGTCGCCGTGCTGGGCCC	0.761																																					p.T486K													.	.			0			c.C1457A																																									SO:0001583	missense	84179	exon10			GTCGCCGTGCTGG	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.1460C>A	4.37:g.675970G>T	ENSP00000384616:p.Thr487Lys		33	0	0		15	0.13	2	NM_032219	22	0	0	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37		.	.	.	.	.	.	.	.	.	.	G	3.536	-0.094786	0.07053	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	D;D;D;D	0.95885	-3.53;-2.99;-3.0;-3.84	1.9	-3.81	0.04294	.	.	.	.	.	D	0.87180	0.6113	N	0.14661	0.345	0.09310	N	0.999995	B;B;B;B	0.15473	0.013;0.013;0.004;0.008	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.73232	-0.4048	9	0.41790	T	0.15	.	5.7614	0.18203	0.2051:0.3674:0.4275:0.0	.	390;368;487;486	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	K	368;486;487;390	ENSP00000307545:T368K;ENSP00000320234:T486K;ENSP00000384616:T487K;ENSP00000423204:T390K	ENSP00000320234:T486K	T	-	2	0	MFSD7	665970	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.404000	0.00239	-1.585000	0.01634	-1.905000	0.00526	ACG			0.761	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000358585.1		NM_032219		T	675970	G	T	675970	3	4	124	1	0	0	0	0	1	0	0	0	9553	1145	40	1	226	1	MFSD7	4	675970	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		675970	190478306	13	9236											
N4BP2	55728	broad.mit.edu	37	chr4	40099152	40099152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgatctggatcctgaTgtagtgtatttgatgctttc	6	20	9	6	0	2	3	0	3	2	0	4	4	3	4	1	1	1	3	1	1	2	6			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:40099152T>A	ENST00000261435.6	+	3	608	c.192T>A	c.(190-192)gaT>gaA	p.D64E		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	64	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				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						TGGATCCTGATGTAGTGTATT	0.393																																					p.D64E													.	N4BP2	166		0			c.T192A												134	134	134					4																	40099152		2203	4300	6503	SO:0001583	missense	55728	exon3			TCCTGATGTAGTG	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.192T>A	4.37:g.40099152T>A	ENSP00000261435:p.Asp64Glu		58	0	0		38	0.08	3	NM_018177	1	0	0	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174557	0.78452	.	.	ENSG00000078177	ENST00000261435	T	0.27890	1.64	5.34	4.16	0.48862	Ubiquitin system component Cue (1);UBA-like (1);	0.287108	0.25099	N	0.033150	T	0.20861	0.0502	N	0.08118	0	0.24721	N	0.99314	D	0.55172	0.97	P	0.51833	0.681	T	0.06716	-1.0811	10	0.20046	T	0.44	.	8.2784	0.31885	0.0:0.1528:0.0:0.8472	.	64	Q86UW6	N4BP2_HUMAN	E	64	ENSP00000261435:D64E	ENSP00000261435:D64E	D	+	3	2	N4BP2	39775547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.089000	0.30890	0.878000	0.35920	0.528000	0.53228	GAT			0.393	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250458.2		NM_018177		A	40099152	T	A	40099152	3	1	124	1	0	0	0	0	1	0	0	0	10126	1461	51	5	194	5	N4BP2	4	40099152	Missense_Mutation	SNP	T	TCGA-XE-AAOJ-01A-12D-A435-10	39423182	40099152	151055124	14	9237											
BEND4	389206	broad.mit.edu;mdanderson.org	37	chr4	42145560	42145560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgtcctcctcctcctcCtcttctggcagtgtagatga	4	14	7	16	1	2	2	0	1	2	1	9	2	8	2	6	1	0	2	6	1	1	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:42145560C>T	ENST00000502486.1	-	3	1518	c.939G>A	c.(937-939)gaG>gaA	p.E313E	BEND4_ENST00000504360.1_Silent_p.E309E	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	313										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						cctcctcctcctcttcTGGCA	0.512																																					p.E313E													.	BEND4	67		0			c.G939A												44	40	41					4																	42145560		2021	4172	6193	SO:0001819	synonymous_variant	389206	exon3			CTCCTCCTCTTCT	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.939G>A	4.37:g.42145560C>T			77	0	0		71	0.06	4	NM_001159547	0		0	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	CCDS47048.1																																																																																					0.512	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360975.2		NM_207406		T	42145560	C	T	42145560	2	4	124	1	0	0	0	0	0	0	0	1	1400	680	24	3		3	BEND4	4	42145560	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	2046408	42145560	149008716	15	9238											
PDHA2	5161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	96761797	96761797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggggcaatggcatcgtcGgtgcacagggccccctgggc	6	6	17	12	2	0	0	0	0	0	0	2	0	0	0	2	6	1	3	2	6	1	0			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:96761797G>A	ENST00000295266.4	+	1	559	c.496G>A	c.(496-498)Ggt>Agt	p.G166S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	166					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)		TGGCATCGTCGGTGCACAGGG	0.507																																					p.G166S													PDHA2,NS,carcinoma,0,1	PDHA2	0	1	0			c.G496A												67	70	69					4																	96761797		2203	4300	6503	SO:0001583	missense	5161	exon1			ATCGTCGGTGCAC		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.496G>A	4.37:g.96761797G>A	ENSP00000295266:p.Gly166Ser		57	0	0		31	0.39	12	NM_005390	0		0	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226337	0.58668	.	.	ENSG00000163114	ENST00000295266	D	0.98381	-4.9	4.67	4.67	0.58626	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.99091	1.0840	10	0.87932	D	0	-13.8878	15.4624	0.75369	0.0:0.0:1.0:0.0	.	166	P29803	ODPAT_HUMAN	S	166	ENSP00000295266:G166S	ENSP00000295266:G166S	G	+	1	0	PDHA2	96980820	1.000000	0.71417	0.170000	0.22879	0.038000	0.13279	6.965000	0.76067	2.587000	0.87381	0.467000	0.42956	GGT			0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253608.1				A	96761797	G	A	96761797	3	1	124	1	0	0	0	0	1	0	0	0	11682	1116	39	1	498	1	PDHA2	4	96761797	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	54616237	96761797	94392479	16	9239											
ELF2	1998	broad.mit.edu	37	chr4	140046335	140046335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacctgtttccacattctcgGtctcaacttcttgttcttct	5	19	4	13	1	5	0	1	0	5	0	8	0	6	0	2	1	2	2	2	1	2	7			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:140046335G>T	ENST00000394235.2	-	4	723	c.221C>A	c.(220-222)aCc>aAc	p.T74N	ELF2_ENST00000265495.4_Missense_Mutation_p.T74N|ELF2_ENST00000379550.1_Missense_Mutation_p.T74N	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CACATTCTCGGTCTCAACTTC	0.373																																					p.A74E													.	ELF2	43		0			c.C221A												199	188	192					4																	140046335		2203	4300	6503	SO:0001583	missense	1998	exon3			TTCTCGGTCTCAA	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.221C>A	4.37:g.140046335G>T	ENSP00000377782:p.Thr74Asn		72	0	0		103	0.04	4	NM_201999	20	0	0		Missense_Mutation	SNP	ENST00000394235.2	37	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813061	0.90707	.	.	ENSG00000109381	ENST00000394235;ENST00000379550;ENST00000265495	T;T;T	0.47177	0.85;0.85;0.85	5.88	5.88	0.94601	.	0.358447	0.30890	N	0.008678	T	0.68293	0.2985	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64054	-0.6497	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	74	Q15723-1	.	N	74	ENSP00000377782:T74N;ENSP00000368868:T74N;ENSP00000265495:T74N	.	T	-	2	0	ELF2	140265785	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.369000	0.79578	2.789000	0.95967	0.591000	0.81541	ACC			0.373	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257233.2		NM_006874		T	140046335	G	T	140046335	3	4	124	1	0	0	0	0	1	0	0	0	5061	1261	44	3	1650	3	ELF2	4	140046335	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	43284538	140046335	51107941	17	9240											
SKP2	6502	mdanderson.org	37	chr5	36168536	36168536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaaggcctgcggctttcgGatcccattgtcaagtgagtg	7	11	14	9	2	1	1	1	1	0	0	3	3	2	3	2	4	1	1	2	4	2	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr5:36168536G>T	ENST00000274255.6	+	5	854	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.D220Y|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCGGCTTTCGGATCCCATTGT	0.478																																					p.D220Y													SKP2_ENST00000274255,NS,carcinoma,0,1	SKP2_ENST00000274255	0	1	0			c.G658T												126	122	123					5																	36168536		2203	4300	6503	SO:0001583	missense	6502	exon5			CTTTCGGATCCCA	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.658G>T	5.37:g.36168536G>T	ENSP00000274255:p.Asp220Tyr		51	0	0		49	0.06	3	NM_005983	30	0	0	A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074653	0.76415	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927	T;T	0.48201	0.82;0.82	5.43	5.43	0.79202	.	0.045126	0.85682	D	0.000000	T	0.75503	0.3858	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81671	-0.0827	10	0.87932	D	0	-21.8799	14.7508	0.69525	0.0:0.0:1.0:0.0	.	220;220	Q13309-2;Q13309	.;SKP2_HUMAN	Y	220;220;186	ENSP00000274254:D220Y;ENSP00000274255:D220Y	ENSP00000274254:D220Y	D	+	1	0	SKP2	36204293	1.000000	0.71417	0.893000	0.35052	0.977000	0.68977	7.154000	0.77437	2.538000	0.85594	0.563000	0.77884	GAT			0.478	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253769.2		NM_005983		T	36168536	G	T	36168536	3	4	124	1	0	0	0	0	1	0	0	0	14385	1174	41	3	676	3	SKP2	5	36168536	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		36168536	144746724	18	9241											
ATXN1	6310	mdanderson.org	37	chr6	16327894	16327894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgatgctg	1	14	14	12	0	0	1	0	1	0	0	0	1	0	1	0	0	12	12	0	0	0	0	rs201040133	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr6:16327894C>A	ENST00000244769.4	-	8	1584	c.648G>T	c.(646-648)caG>caT	p.Q216H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q216H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	216	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.662													-|||	41	0.0081869	0.0091	0.0014	5008	,	,		12664	0.0109		0.005	False		,,,				2504	0.0123				p.Q216H													.	.			0			c.G648T												4	8	7					6																	16327894		1839	3762	5601	SO:0001583	missense	6310	exon7			CTGCTGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.648G>T	6.37:g.16327894C>A	ENSP00000244769:p.Gln216His		35	0.0285714286	1		39	0.1	4	NM_001128164	2	0	0	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	-	5.041	0.193181	0.09599	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.59906	0.23;0.23	.	.	.	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.28713	0.22	B	0.17979	0.02	T	0.14364	-1.0475	7	0.66056	D	0.02	.	.	.	.	.	216	P54253	ATX1_HUMAN	H	216	ENSP00000244769:Q216H;ENSP00000416360:Q216H	ENSP00000244769:Q216H	Q	-	3	2	ATXN1	16435873	0.005000	0.15991	0.008000	0.14137	0.119000	0.20118	-0.699000	0.05087	0.119000	0.18210	0.121000	0.15741	CAG			0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039943.3		NM_000332		A	16327894	C	A	16327894	3	1	124	1	0	0	0	0	1	0	0	0	1209	796	28	2	1807	2	ATXN1	6	16327894	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10		16327894	154787173	19	9242											
UPP1	7378	mdanderson.org	37	chr7	48139313	48139313	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatagcaaaaatgaaaGaagatattctctatcatttc	19	11	4	7	0	2	3	1	1	1	2	4	3	2	3	0	0	2	1	0	0	8	5			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:48139313G>T	ENST00000331803.4	+	5	714	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	UPP1_ENST00000429491.2_Intron|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000341253.4_Nonsense_Mutation_p.E31*|UPP1_ENST00000395564.4_Nonsense_Mutation_p.E31*			Q16831	UPP1_HUMAN	uridine phosphorylase 1	31					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AAAAATGAAAGAAGATATTCT	0.418																																					p.E31X													.	.			0			c.G91T												133	130	131					7																	48139313		2203	4300	6503	SO:0001587	stop_gained	7378	exon4			ATGAAAGAAGATA	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.91G>T	7.37:g.48139313G>T	ENSP00000330032:p.Glu31*		69	0	0		48	0.06	3	NM_003364	2	0	0	D3DVM4|Q15362	Nonsense_Mutation	SNP	ENST00000331803.4	37	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	37	6.611714	0.97705	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	.	.	.	5.43	5.43	0.79202	.	0.098276	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-28.1289	18.2259	0.89917	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000330032:E31X	E	+	1	0	UPP1	48105838	1.000000	0.71417	0.992000	0.48379	0.888000	0.51559	6.010000	0.70753	2.531000	0.85337	0.563000	0.77884	GAA			0.418	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251360.1		NM_003364		T	48139313	G	T	48139313	4	4	124	1	0	0	0	0	0	1	0	0	17036	943	33	3	97	3	UPP1	7	48139313	Nonsense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		48139313	110999350	20	9243											
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	48654898	48654898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatggaggagtgtgaggCtctttgcacaagactggcca	10	8	14	9	0	1	2	0	1	1	1	1	4	1	4	1	4	2	3	1	4	1	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:48654898C>G	ENST00000435803.1	+	59	14786	c.14762C>G	c.(14761-14763)gCt>gGt	p.A4921G	ABCA13_ENST00000544596.1_Missense_Mutation_p.A651G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4921	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGTGTGAGGCTCTTTGCACA	0.428																																					p.A4921G													.	.			0			c.C14762G												81	81	81					7																	48654898		1919	4134	6053	SO:0001583	missense	154664	exon59			GTGAGGCTCTTTG	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14762C>G	7.37:g.48654898C>G	ENSP00000411096:p.Ala4921Gly		171	0	0		129	0.33	42	NM_152701	0		0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691330	0.88735	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.39997	1.05;1.05;1.05	5.99	5.99	0.97316	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.126338	0.35772	N	0.002989	T	0.64136	0.2571	M	0.64630	1.985	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.994	T	0.64153	-0.6474	10	0.87932	D	0	.	17.9616	0.89087	0.0:1.0:0.0:0.0	.	651;2623;4921	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	G	4921;694;651	ENSP00000411096:A4921G;ENSP00000391042:A694G;ENSP00000442634:A651G	ENSP00000391042:A694G	A	+	2	0	ABCA13	48625444	1.000000	0.71417	0.733000	0.30861	0.698000	0.40448	7.136000	0.77285	2.842000	0.97951	0.655000	0.94253	GCT			0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341964.2		NM_152701		G	48654898	C	G	48654898	3	3	124	1	0	0	0	0	1	0	0	0	31	797	28	5	14825	5	ABCA13	7	48654898	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	515585	48654898	110483765	21	9244											
MEPCE	56257	hgsc.bcm.edu	37	chr7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccggggacagcaccaccaGcagcagcaggcagccggagg	11	0	15	15	2	0	0	0	0	0	0	0	2	0	2	4	5	5	5	4	5	0	0			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|MEPCE_ENST00000414441.1_5'UTR	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																																					p.Q271H													MEPCE,NS,carcinoma,0,1	MEPCE	0	1	0			c.G813C												99	109	105					7																	100028454		2203	4300	6503	SO:0001583	missense	56257	exon1			CCACCAGCAGCAG	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		47	0.0212765957	1		40	0.05	2	NM_019606	15	0	0	B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	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				C	100028454	G	C	100028454	3	2	124	1	0	0	0	0	1	0	0	0	9493	962	34	5	815	5	MEPCE	7	100028454	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	51373556	100028454	59110209	22	9245											
TRPV6	55503	bcgsc.ca	37	chr7	142573614	142573614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggtcagtggtccatacGtccactgggtgtgcttccgc	5	11	13	12	3	1	0	1	0	0	0	5	1	4	0	3	3	2	1	3	3	1	2	rs201899094		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:142573614G>T	ENST00000359396.3	-	7	1051	c.806C>A	c.(805-807)aCg>aAg	p.T269K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	269					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGTCCATACGTCCACTGGGT	0.532																																					p.T269K													.	TRPV6	108		0			c.C806A												213	161	178					7																	142573614		2203	4300	6503	SO:0001583	missense	55503	exon7			CCATACGTCCACT	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.806C>A	7.37:g.142573614G>T	ENSP00000352358:p.Thr269Lys		70	0	0		54	0.07	4	NM_018646	1	0	0	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101187	0.37048	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.41065	1.01	4.96	4.96	0.65561	.	0.169215	0.52532	D	0.000074	T	0.48132	0.1483	M	0.79123	2.44	0.35608	D	0.808432	B	0.27192	0.171	B	0.30495	0.116	T	0.56817	-0.7916	10	0.25106	T	0.35	-2.1715	17.227	0.86973	0.0:0.0:1.0:0.0	.	269	Q9H1D0	TRPV6_HUMAN	K	269;101	ENSP00000352358:T269K	ENSP00000310825:T101K	T	-	2	0	TRPV6	142283736	0.963000	0.33076	0.914000	0.36105	0.086000	0.17979	2.154000	0.42291	2.320000	0.78422	0.655000	0.94253	ACG			0.532	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347662.1		NM_014274		T	142573614	G	T	142573614	3	4	124	1	0	0	0	0	1	0	0	0	16624	1145	40	1	1407	1	TRPV6	7	142573614	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	42545160	142573614	16565049	23	9246											
MLL3	58508	mdanderson.org	37	chr7	151962269	151962269	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcccgggctgtcgcaCactgcacagtttgcatcttc	6	11	10	14	2	2	0	0	0	2	0	5	0	2	0	1	2	2	5	1	2	0	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:151962269C>T	ENST00000262189.6	-	8	1256	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	KMT2C_ENST00000355193.2_Silent_p.V346V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	346					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)										GGCTGTCGCACACTGCACAGT	0.368																																					p.V346V													.	.			0			c.G1038A												108	97	101					7																	151962269		2203	4298	6501	SO:0001819	synonymous_variant	58508	exon8			GTCGCACACTGCA	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.1038G>A	7.37:g.151962269C>T			117	0	0		123	0.07	9	NM_170606	1	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																					0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3				T	151962269	C	T	151962269	2	4	124	1	0	0	0	0	0	0	0	1	9638	465	17	3		3	MLL3	7	151962269	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	9388655	151962269	7176394	24	9247											
TTC39B	158219	mdanderson.org	37	chr9	15175041	15175041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtttctaggaactttatgGccttgtcaatttccccctgg	7	15	8	11	0	2	0	1	0	1	0	3	1	3	1	3	3	1	1	3	3	4	6			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr9:15175041G>T	ENST00000512701.2	-	19	1970	c.1934C>A	c.(1933-1935)gCc>gAc	p.A645D	TTC39B_ENST00000380850.4_Missense_Mutation_p.A632D|TTC39B_ENST00000297615.5_Missense_Mutation_p.A576D|TTC39B_ENST00000507993.1_Missense_Mutation_p.A480D|TTC39B_ENST00000507285.1_Missense_Mutation_p.A480D|TTC39B_ENST00000355694.2_Missense_Mutation_p.A579D			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	645										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GAACTTTATGGCCTTGTCAAT	0.408																																					p.A645D													.	.			0			c.C1934A												134	129	131					9																	15175041		2203	4300	6503	SO:0001583	missense	158219	exon19			TTTATGGCCTTGT	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1934C>A	9.37:g.15175041G>T	ENSP00000422496:p.Ala645Asp		55	0	0		44	0.07	3	NM_152574	4	0	0	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194303	0.78902	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	D;T;D;D;T;T	0.90955	-2.76;-0.92;-1.53;-1.53;-0.92;-0.92	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.96294	0.8791	M	0.89353	3.025	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;0.999	D	0.96457	0.9338	10	0.72032	D	0.01	-10.3551	19.4919	0.95054	0.0:0.0:1.0:0.0	.	576;632;577;579;162	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	D	632;576;579;645;480;480	ENSP00000370231:A632D;ENSP00000297615:A576D;ENSP00000347920:A579D;ENSP00000422496:A645D;ENSP00000426539:A480D;ENSP00000423392:A480D	ENSP00000297615:A576D	A	-	2	0	TTC39B	15165041	1.000000	0.71417	0.997000	0.53966	0.707000	0.40811	7.483000	0.81158	2.691000	0.91804	0.655000	0.94253	GCC			0.408	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051758.3		NM_152574		T	15175041	G	T	15175041	3	4	124	1	0	0	0	0	1	0	0	0	16732	1203	42	2	122	2	TTC39B	9	15175041	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		15175041	126038390	25	9248											
COL27A1	85301	mdanderson.org	37	chr9	117002729	117002729	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggtaagcctggagccCgaggcctgccgggaccccgt	6	4	15	16	3	0	0	0	0	0	0	0	3	0	2	7	4	3	1	7	4	1	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr9:117002729C>A	ENST00000356083.3	+	21	3188	c.2797C>A	c.(2797-2799)Cga>Aga	p.R933R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	933	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCTGGAGCCCGAGGCCTGCC	0.667																																					p.R933R													.	.			0			c.C2797A												82	91	88					9																	117002729		2203	4300	6503	SO:0001819	synonymous_variant	85301	exon21			GGAGCCCGAGGCC	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.2797C>A	9.37:g.117002729C>A			45	0	0		33	0.09	3	NM_032888	39	0	0	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																					0.667	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053763.1		NM_032888		A	117002729	C	A	117002729	2	1	124	1	0	0	0	0	0	0	0	1	3687	644	23	1		1	COL27A1	9	117002729	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	101827688	117002729	24210702	26	9249											
STXBP1	6812	mdanderson.org	37	chr9	130434352	130434352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgcgggacctgtcccAgatgctgaagaagatgcctc	10	7	11	13	1	0	4	0	1	0	3	2	5	1	5	4	1	3	1	4	1	2	0			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr9:130434352A>G	ENST00000373299.1	+	12	1101	c.986A>G	c.(985-987)cAg>cGg	p.Q329R	STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373302.3_Missense_Mutation_p.Q329R	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	329					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						GACCTGTCCCAGATGCTGAAG	0.488																																					p.Q329R													.	.			0			c.A986G												122	113	116					9																	130434352		2203	4300	6503	SO:0001583	missense	6812	exon12			TGTCCCAGATGCT	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.986A>G	9.37:g.130434352A>G	ENSP00000362396:p.Gln329Arg		59	0	0		36	0.08	3	NM_001032221	9	0	0	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682233	0.68042	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80214	-1.35;-1.35	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.84575	0.5502	M	0.90252	3.1	0.80722	D	1	B;B	0.21452	0.056;0.045	B;B	0.27608	0.081;0.049	D	0.83773	0.0221	10	0.56958	D	0.05	-14.6536	13.6827	0.62496	1.0:0.0:0.0:0.0	.	329;329	P61764;P61764-2	STXB1_HUMAN;.	R	283;329;161;329	ENSP00000362399:Q329R;ENSP00000362396:Q329R	ENSP00000362396:Q329R	Q	+	2	0	STXBP1	129474173	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.172000	0.68678	0.459000	0.35465	CAG			0.488	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054229.1		NM_003165		G	130434352	A	G	130434352	3	3	124	1	0	0	0	0	1	0	0	0	15375	188	7	4	1032	4	STXBP1	9	130434352	Missense_Mutation	SNP	A	TCGA-XE-AAOJ-01A-12D-A435-10	13431623	130434352	10779079	27	9250											
ANKRD30A	91074	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	37442535	37442535	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcacagaaggatgtgtgTttacccaaggctacacatca	12	11	9	9	0	2	1	2	0	0	1	2	2	2	2	1	2	2	3	1	2	4	4			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr10:37442535T>G	ENST00000602533.1	+	13	1674	c.1575T>G	c.(1573-1575)tgT>tgG	p.C525W	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.C525W|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C525W			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	581					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						AGGATGTGTGTTTACCCAAGG	0.289																																					p.C525W													.	ANKRD30A	448		0			c.T1575G												138	139	139					10																	37442535		1801	4068	5869	SO:0001583	missense	91074	exon13			TGTGTGTTTACCC	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.1575T>G	10.37:g.37442535T>G	ENSP00000473551:p.Cys525Trp		576	0.0017361111	1		531	0.06	34	NM_052997	0		0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	9.606	1.129973	0.21041	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05786	3.39;3.39	1.47	1.47	0.22746	.	.	.	.	.	T	0.03695	0.0105	N	0.19112	0.55	0.09310	N	1	P	0.39964	0.697	B	0.35353	0.201	T	0.41052	-0.9530	9	0.42905	T	0.14	.	5.1117	0.14813	0.0:0.0:0.0:1.0	.	581	Q9BXX3	AN30A_HUMAN	W	525	ENSP00000354432:C525W;ENSP00000363792:C525W	ENSP00000354432:C525W	C	+	3	2	ANKRD30A	37482541	0.029000	0.19370	0.005000	0.12908	0.007000	0.05969	0.701000	0.25616	0.941000	0.37499	0.315000	0.21342	TGT			0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000047588.2		NM_052997		G	37442535	T	G	37442535	3	3	124	1	0	0	0	0	1	0	0	0	658	1731	60	4	1625	4	ANKRD30A	10	37442535	Missense_Mutation	SNP	T	TCGA-XE-AAOJ-01A-12D-A435-10		37442535	98092212	28	9251											
PCDH15	65217	mdanderson.org	37	chr10	56129034	56129034	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgtatgttcatcggtGgctgcaatgtagaaattgca	10	13	13	5	1	1	1	1	0	0	1	2	2	1	2	0	3	2	6	0	3	4	4			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr10:56129034G>T	ENST00000320301.6	-	5	714	c.320C>A	c.(319-321)cCa>cAa	p.P107Q	PCDH15_ENST00000373957.3_Splice_Site_p.P85Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Splice_Site_p.P112Q|PCDH15_ENST00000437009.1_Splice_Site_p.P107Q|PCDH15_ENST00000395433.1_Splice_Site_p.P85Q|PCDH15_ENST00000395440.1_Splice_Site_p.P107Q|PCDH15_ENST00000395438.1_Splice_Site_p.P107Q|PCDH15_ENST00000373965.2_Splice_Site_p.P107Q|PCDH15_ENST00000373955.1_Splice_Site_p.P107Q|PCDH15_ENST00000395432.2_Splice_Site_p.P107Q|PCDH15_ENST00000395445.1_Splice_Site_p.P107Q|PCDH15_ENST00000395430.1_Splice_Site_p.P107Q|PCDH15_ENST00000361849.3_Splice_Site_p.P107Q|PCDH15_ENST00000395446.1_Splice_Site_p.P107Q|PCDH15_ENST00000395442.1_Splice_Site_p.P107Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	107	Cadherin 1. {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)			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)				GTTCATCGGTGGCTGCAATGT	0.388										HNSCC(58;0.16)																											p.P112Q													.	.			0			c.C335A												85	73	77					10																	56129034		2203	4299	6502	SO:0001630	splice_region_variant	65217	exon6			ATCGGTGGCTGCA	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.319-1C>A	10.37:g.56129034G>T			36	0	0		25	0.12	3	NM_001142763	0		0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019860	0.75275	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.52;0.57;0.5;0.5;0.53;0.8;0.7;0.42;0.42;0.47;0.39;0.42;0.42;0.48;0.57	5.52	5.52	0.82312	Cadherin (1);	.	.	.	.	T	0.64461	0.2600	L	0.32530	0.975	0.51482	D	0.99992	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;0.999;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	0.999;0.998;0.991;0.991;0.999;0.998;0.999;0.999;0.987;0.979;0.993;0.999;1.0;0.999;0.991	T	0.62455	-0.6851	9	0.40728	T	0.16	.	19.0325	0.92963	0.0:0.0:1.0:0.0	.	85;107;107;112;107;107;107;107;107;107;107;112;107;85;107	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	107;112;107;107;107;107;107;107;107;107;85;85;107;107;112;107;107	ENSP00000363076:P107Q;ENSP00000410304:P112Q;ENSP00000378826:P107Q;ENSP00000378832:P107Q;ENSP00000378833:P107Q;ENSP00000378829:P107Q;ENSP00000378827:P107Q;ENSP00000378820:P107Q;ENSP00000354950:P107Q;ENSP00000378821:P85Q;ENSP00000363068:P85Q;ENSP00000322604:P107Q;ENSP00000378818:P107Q;ENSP00000412628:P107Q;ENSP00000363066:P107Q	ENSP00000322604:P107Q	P	-	2	0	PCDH15	55799040	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.839000	0.99476	2.590000	0.87494	0.585000	0.79938	CCA			0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000048121.2		NM_033056	Missense_Mutation	T	56129034	G	T	56129034	5	4	124	1	0	0	0	0	0	0	1	0	11528	1362	47	3	7307	3	PCDH15	10	56129034	Splice_Site	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	18686499	56129034	79405713	29	9252											
GPR120	338557	mdanderson.org	37	chr10	95326948	95326948	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcggcgggcgcgggcagtGctgctggcgctcatctgggg	2	6	22	11	5	2	0	1	0	1	0	2	0	2	0	0	7	2	4	0	7	0	0			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr10:95326948G>A	ENST00000371483.4	+	1	527	c.471G>A	c.(469-471)gtG>gtA	p.V157V	FFAR4_ENST00000604414.1_Silent_p.V157V|FFAR4_ENST00000371481.4_Silent_p.V157V	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	157					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)										CGCGGGCAGTGCTGCTGGCGC	0.716																																					p.V157V													.	.			0			c.G471A												11	13	12					10																	95326948		2179	4226	6405	SO:0001819	synonymous_variant	338557	exon1			GGCAGTGCTGCTG		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.471G>A	10.37:g.95326948G>A			26	0	0		25	0.12	3	NM_001195755	0		0	Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	CCDS31248.1																																																																																					0.716	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000083179.1		NM_181745		A	95326948	G	A	95326948	2	1	124	1	0	0	0	0	0	0	0	1	6650	1306	46	2		2	GPR120	10	95326948	Silent	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	39197914	95326948	40207799	30	9253											
UBTD1	80019	mdanderson.org	37	chr10	99330066	99330066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggtgcgcctgtccaCgggcaaggacgtgaggctca	8	6	16	11	3	1	2	1	2	0	0	2	3	2	3	2	4	1	3	2	4	2	0	rs567215770		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr10:99330066C>T	ENST00000370664.3	+	3	806	c.470C>T	c.(469-471)aCg>aTg	p.T157M	ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000455090.1_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	157	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CGCCTGTCCACGGGCAAGGAC	0.697													C|||	1	0.000199681	8e-04	0	5008	,	,		15348	0		0	False		,,,				2504	0				p.T157M	Pancreas(100;169 2668 32720)												.	.			0			c.C470T												43	43	43					10																	99330066		2203	4299	6502	SO:0001583	missense	80019	exon3			TGTCCACGGGCAA	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.470C>T	10.37:g.99330066C>T	ENSP00000359698:p.Thr157Met		27	0	0		46	0.07	3	NM_024954	27	0	0	D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758042	0.49468	.	.	ENSG00000165886	ENST00000370664	T	0.74209	-0.82	5.34	4.43	0.53597	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89576	0.3817	10	0.87932	D	0	-9.3344	15.3298	0.74200	0.1412:0.8588:0.0:0.0	.	157	Q9HAC8	UBTD1_HUMAN	M	157	ENSP00000359698:T157M	ENSP00000359698:T157M	T	+	2	0	UBTD1	99320056	1.000000	0.71417	0.883000	0.34634	0.045000	0.14185	7.818000	0.86416	1.390000	0.46547	-0.181000	0.13052	ACG			0.697	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049701.1		NM_024954		T	99330066	C	T	99330066	3	4	124	1	0	0	0	0	1	0	0	0	16931	536	19	1	480	1	UBTD1	10	99330066	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	4003118	99330066	36204681	31	9254											
OR5L1	219437	hgsc.bcm.edu	37	chr11	55579329	55579330	+	Silent	DNP	TT	TT	CC																															tttgtggccatctgtaacccTttgctatacacagtcaccat																								rs143718494|rs148925009	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	TT	TT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:55579329_55579330TT>CC	ENST00000333973.2	+	1	476_477	c.387_388TT>CC	c.(385-390)ccTTtg>ccCCtg	p.129_130PL>PL		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, 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)			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)				TCTGTAACCCTTTGCTATACAC	0.51																																					p.N128N													OR5L1,NS,carcinoma,-1,1	OR5L1	-1	1	0			c.T388C																																									SO:0001819	synonymous_variant	219437	exon1			TAACCCTTTGCTA	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	Exception_encountered	11.37:g.55579329_55579330delinsCC			74	0	0		100	0.05	5	NM_001004738	0		0	B2RNK6|Q6IFD0	Silent	DNP	ENST00000333973.2	37	CCDS31509.1																																																																																			0		0.51	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391514.1		NM_001004738		CC	55579330	TT	CC	55579329	2	2	124	1	0	0	0	0	0	0	0	1	11187	1596	56	4		4	OR5L1	11	55579329	Silent	DNP	TT	TCGA-XE-AAOJ-01A-12D-A435-10		55579329	79427187	32	9255											
CLP1	10978	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	57427264	57427264	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggaacagatgcggaggCaagcggaaaaggaagaagag	16	3	16	6	2	0	3	0	0	0	3	0	7	0	7	1	5	3	1	1	5	6	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:57427264C>T	ENST00000302731.4	+	2	436	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	CLP1_ENST00000525602.1_Nonsense_Mutation_p.Q106*|CLP1_ENST00000533682.1_Nonsense_Mutation_p.Q106*|CLP1_ENST00000529430.1_Nonsense_Mutation_p.Q117*	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GATGCGGAGGCAAGCGGAAAA	0.552																																					p.Q106X													.	.			0			c.C316T												89	89	89					11																	57427264		2201	4296	6497	SO:0001587	stop_gained	10978	exon2			CGGAGGCAAGCGG	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.316C>T	11.37:g.57427264C>T	ENSP00000304704:p.Gln106*		94	0	0		101	0.29	29	NM_001142597	15	0	0	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Nonsense_Mutation	SNP	ENST00000302731.4	37	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739762	0.89573	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000533905;ENST00000525602;ENST00000302731	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-19.2818	19.237	0.93864	0.0:1.0:0.0:0.0	.	.	.	.	X	117;106;106;106;106	.	ENSP00000304704:Q106X	Q	+	1	0	CLP1	57183840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.640000	0.89533	0.655000	0.94253	CAA			0.552	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000393465.1		NM_006831		T	57427264	C	T	57427264	4	4	124	1	0	0	0	0	0	1	0	0	3552	711	25	2	318	2	CLP1	11	57427264	Nonsense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	1847935	57427264	77579252	33	9256											
OR1S2	219958	hgsc.bcm.edu	37	chr11	57970760	57970760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgtagatgaaggggttCatcatgggtgtcaccacagt	11	10	13	7	0	3	2	3	1	0	1	3	2	3	2	1	3	1	3	1	3	3	2	rs200054918		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:57970760C>T	ENST00000302592.6	-	1	893	c.894G>A	c.(892-894)atG>atA	p.M298I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M298I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGAAGGGGTTCATCATGGGTG	0.468																																					p.M298I													OR1S2,NS,carcinoma,0,3	OR1S2	0	3	1	Substitution - Missense(1)	endometrium(1)	c.G894A												160	152	155					11																	57970760		2201	4296	6497	SO:0001583	missense	219958	exon1			GGGGTTCATCATG	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.894G>A	11.37:g.57970760C>T	ENSP00000305469:p.Met298Ile		79	0.0253164557	2		96	0.05	5	NM_001004459	0		0	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903545	0.33628	.	.	ENSG00000197887	ENST00000302592	T	0.34072	1.38	4.75	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	1.116300	0.06795	N	0.787733	T	0.30386	0.0763	L	0.33137	0.985	0.26469	N	0.975316	B	0.02656	0.0	B	0.06405	0.002	T	0.34378	-0.9831	10	0.72032	D	0.01	.	10.1183	0.42605	0.0:0.7564:0.0:0.2436	.	298	Q8NGQ3	OR1S2_HUMAN	I	298	ENSP00000305469:M298I	ENSP00000305469:M298I	M	-	3	0	OR1S2	57727336	0.014000	0.17966	0.995000	0.50966	0.993000	0.82548	-0.853000	0.04303	0.694000	0.31654	0.655000	0.94253	ATG			0.468	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394703.2		NM_001004459		T	57970760	C	T	57970760	3	4	124	1	0	0	0	0	1	0	0	0	10990	826	29	3	86	3	OR1S2	11	57970760	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	543496	57970760	77035756	34	9257											
VEGFB	7423	mdanderson.org	37	chr11	64003785	64003785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtccctggaagaacacagCcagtgtgaatgcaggtgcca	12	7	12	10	0	0	2	0	1	0	1	1	3	1	3	3	2	4	1	3	2	3	0			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:64003785C>T	ENST00000309422.2	+	4	656	c.360C>T	c.(358-360)agC>agT	p.S120S	RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_Silent_p.S120S	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	120					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|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)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	AAGAACACAGCCAGTGTGAAT	0.607																																					p.S120S													.	.			0			c.C360T												68	70	69					11																	64003785		2201	4297	6498	SO:0001819	synonymous_variant	7423	exon4			ACACAGCCAGTGT	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.360C>T	11.37:g.64003785C>T			35	0	0		37	0.08	3	NM_001243733	150	0	0	Q16528	Silent	SNP	ENST00000309422.2	37	CCDS8062.1																																																																																					0.607	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000396393.2		NM_003377		T	64003785	C	T	64003785	2	4	124	1	0	0	0	0	0	0	0	1	17175	738	26	2		2	VEGFB	11	64003785	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	6033025	64003785	71002731	35	9258											
PLCB3	5331	mdanderson.org	37	chr11	64034987	64034987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagcagcgggcacctgtcgGgcgctgactcggagagccag	7	4	18	12	4	0	2	0	1	0	1	2	4	0	3	2	4	3	3	2	4	0	0			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:64034987G>T	ENST00000540288.1	+	31	3767	c.3664G>T	c.(3664-3666)Ggc>Tgc	p.G1222C	PLCB3_ENST00000325234.5_Missense_Mutation_p.G1155C|PLCB3_ENST00000279230.6_Missense_Mutation_p.G1222C	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1222					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						GCACCTGTCGGGCGCTGACTC	0.726																																					p.G1222C													.	.			0			c.G3664T												4	6	5					11																	64034987		2078	4139	6217	SO:0001583	missense	5331	exon31			CTGTCGGGCGCTG	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.3664G>T	11.37:g.64034987G>T	ENSP00000443631:p.Gly1222Cys		14	0	0		19	0.11	2	NM_000932	93	0	0	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185662	0.38609	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.22743	2.08;2.08;1.94	4.21	2.29	0.28610	.	0.684700	0.13188	N	0.406993	T	0.14013	0.0339	N	0.08118	0	0.09310	N	1	P;P	0.51147	0.895;0.942	P;P	0.49301	0.606;0.53	T	0.09037	-1.0693	10	0.66056	D	0.02	.	5.6501	0.17612	0.1804:0.0:0.6627:0.1569	.	1155;1222	G5E960;Q01970	.;PLCB3_HUMAN	C	1222;1222;1155	ENSP00000279230:G1222C;ENSP00000443631:G1222C;ENSP00000324660:G1155C	ENSP00000279230:G1222C	G	+	1	0	PLCB3	63791563	0.001000	0.12720	0.005000	0.12908	0.838000	0.47535	0.132000	0.15891	0.521000	0.28445	0.561000	0.74099	GGC			0.726	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396405.1				T	64034987	G	T	64034987	3	4	124	1	0	0	0	0	1	0	0	0	12046	1232	43	3	3786	3	PLCB3	11	64034987	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	31202	64034987	70971529	36	9259											
UNC93B1	81622	broad.mit.edu;mdanderson.org	37	chr11	67763107	67763107	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtcttgttcagggcActgcccacaccccaaagggc	9	7	10	15	0	2	0	1	0	1	0	3	0	3	0	4	2	1	2	4	2	1	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:67763107A>G	ENST00000227471.2	-	10	1414	c.1335T>C	c.(1333-1335)agT>agC	p.S445S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TGTTCAGGGCACTGCCCACAC	0.617																																					.													.	.			0			.												10	10	10					11																	67763107		1758	3730	5488	SO:0001819	synonymous_variant	81622	.			CAGGGCACTGCCC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1335T>C	11.37:g.67763107A>G			60	0	0		80	0.1	8	.	43	0	0	O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37																																																																																						0.617	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_030930		G	67763107	A	G	67763107	2	3	124	1	0	0	0	0	0	0	0	1	17021	156	6	4		4	UNC93B1	11	67763107	Silent	SNP	A	TCGA-XE-AAOJ-01A-12D-A435-10	3728120	67763107	67243409	37	9260											
NADSYN1	55191	mdanderson.org	37	chr11	71192991	71192991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtttttgctgcccttgaGtggcggggtggacagcgcag	5	10	18	8	2	0	1	0	1	0	0	0	2	0	2	1	5	3	3	1	5	0	3			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:71192991G>T	ENST00000319023.2	+	13	1258	c.1070G>T	c.(1069-1071)aGt>aTt	p.S357I	NADSYN1_ENST00000530055.1_5'UTR|NADSYN1_ENST00000526039.2_Intron|NADSYN1_ENST00000539574.1_Missense_Mutation_p.S97I	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	357	Ligase. {ECO:0000250}.				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)	CTGCCCTTGAGTGGCGGGGTG	0.602																																					p.S357I	Ovarian(79;763 1781 6490 50276)												.	.			0			c.G1070T												62	47	52					11																	71192991		2199	4294	6493	SO:0001583	missense	55191	exon13			CCTTGAGTGGCGG	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.1070G>T	11.37:g.71192991G>T	ENSP00000326424:p.Ser357Ile		41	0	0		45	0.07	3	NM_018161	29	0	0	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736617	0.89482	.	.	ENSG00000172890	ENST00000319023;ENST00000539574	D;D	0.98762	-5.12;-5.12	4.95	4.95	0.65309	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98029	1.0375	10	0.87932	D	0	-21.1591	15.6741	0.77300	0.0:0.0:1.0:0.0	.	97;357	B3KUU4;Q6IA69	.;NADE_HUMAN	I	357;97	ENSP00000326424:S357I;ENSP00000443718:S97I	ENSP00000326424:S357I	S	+	2	0	NADSYN1	70870639	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	7.924000	0.87555	2.307000	0.77673	0.491000	0.48974	AGT			0.602	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394356.1		NM_018161		T	71192991	G	T	71192991	3	4	124	1	0	0	0	0	1	0	0	0	10154	1029	36	3	1120	3	NADSYN1	11	71192991	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	3429884	71192991	63813525	38	9261											
NCAPD2	9918	broad.mit.edu	37	chr12	6637351	6637351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcttagtgccactttctgCgactcccagcttcgtcttct	4	15	7	15	2	4	0	0	0	4	0	6	1	5	0	2	0	3	2	2	0	1	4	rs376232892		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr12:6637351C>T	ENST00000315579.5	+	25	3955	c.3156C>T	c.(3154-3156)tgC>tgT	p.C1052C	NCAPD2_ENST00000545962.1_Silent_p.C1007C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1052					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCACTTTCTGCGACTCCCAGC	0.532																																					p.C1052C													.	NCAPD2	99		0			c.C3156T							C		0,4406		0,0,2203	204	210	208		3156	-1.3	1	12		208	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NCAPD2	NM_014865.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1052/1402	6637351	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9918	exon25			TTTCTGCGACTCC	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3156C>T	12.37:g.6637351C>T			154	0	0		613	0.01	9	NM_014865	404	0	0	D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	CCDS8548.1																																																																																					0.532	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399964.1		NM_014865		T	6637351	C	T	6637351	2	4	124	1	0	0	0	0	0	0	0	1	10222	776	27	1		1	NCAPD2	12	6637351	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10		6637351	127214544	39	9262											
A2M	2	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	9258885	9258885	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtccactttcacaaatgAgagtttggttatggttcttg	9	16	10	6	0	2	2	1	2	1	1	3	3	3	2	1	2	0	3	1	2	2	5			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr12:9258885A>C	ENST00000318602.7	-	10	1358	c.1051T>G	c.(1051-1053)Tca>Gca	p.S351A		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	351				LSFV -> ACCS (in Ref. 6; AAH26246). {ECO:0000305}.	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)	TTCACAAATGAGAGTTTGGTT	0.403																																					p.S351A													.	.			0			c.T1051G												165	158	160					12																	9258885		1859	4093	5952	SO:0001583	missense	2	exon10			CAAATGAGAGTTT	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.1051T>G	12.37:g.9258885A>C	ENSP00000323929:p.Ser351Ala		118	0	0		292	0.07	19	NM_000014	77	0.04	3	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606764	0.28623	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.29142	1.58	6.06	3.51	0.40186	.	0.182652	0.38005	N	0.001843	T	0.36303	0.0962	M	0.85542	2.76	0.25190	N	0.990135	B	0.28552	0.215	B	0.32465	0.146	T	0.19192	-1.0313	10	0.26408	T	0.33	.	9.0066	0.36115	0.7716:0.0:0.0:0.2284	.	351	P01023	A2MG_HUMAN	A	351;366	ENSP00000323929:S351A	ENSP00000323929:S351A	S	-	1	0	A2M	9150152	0.918000	0.31147	1.000000	0.80357	0.942000	0.58702	1.318000	0.33643	2.324000	0.78689	0.533000	0.62120	TCA			0.403	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317233.2		NM_000014		C	9258885	A	C	9258885	3	2	124	1	0	0	0	0	1	0	0	0	4	304	11	4	3481	4	A2M	12	9258885	Missense_Mutation	SNP	A	TCGA-XE-AAOJ-01A-12D-A435-10	2621534	9258885	124593010	40	9263											
PRR4	11272	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr12	10999711	10999711	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggtctgtccctctggAagaatgatgatgcttcctgc	6	14	11	10	0	2	3	0	2	2	1	4	4	4	4	2	2	3	2	2	2	2	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr12:10999711A>G	ENST00000228811.4	-	3	393	c.356T>C	c.(355-357)tTc>tCc	p.F119S	PRR4_ENST00000540107.1_Silent_p.L61L|PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Missense_Mutation_p.S42P	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	119					retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						GTCCCTCTGGAAGAATGATGA	0.502																																					p.F119S													.	.			0			c.T356C												179	172	174					12																	10999711		1977	4179	6156	SO:0001583	missense	11272	exon3			CTCTGGAAGAATG		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.356T>C	12.37:g.10999711A>G	ENSP00000228811:p.Phe119Ser		100	0	0		276	0.1	28	NM_007244	54	0.07	4	A8KA69|F5H0D7|Q8NFB3	Missense_Mutation	SNP	ENST00000228811.4	37	CCDS41756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.596|5.596	0.294727|0.294727	0.10567|0.10567	.|.	.|.	ENSG00000111215|ENSG00000111215	ENST00000228811|ENST00000544994;ENST00000431566	T|T	0.18174|0.04706	2.23|3.57	0.923|0.923	-0.358|-0.358	0.12575|0.12575	.|.	1.787420|.	0.05749|.	N|.	0.602850|.	T|T	0.05410|0.05410	0.0143|0.0143	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.12630|.	0.006|.	B|.	0.06405|.	0.002|.	T|T	0.39121|0.39121	-0.9629|-0.9629	9|6	0.26408|0.87932	T|D	0.33|0	.|.	3.0656|3.0656	0.06213|0.06213	0.4634:0.0:0.5366:0.0|0.4634:0.0:0.5366:0.0	.|.	119|.	Q16378|.	PROL4_HUMAN|.	S|P	119|42;103	ENSP00000228811:F119S|ENSP00000438046:S42P	ENSP00000228811:F119S|ENSP00000405056:S103P	F|S	-|-	2|1	0|0	PRR4|PRR4	10890978|10890978	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.042000|0.042000	0.13812|0.13812	-0.899000|-0.899000	0.04101|0.04101	-0.171000|-0.171000	0.10797|0.10797	0.338000|0.338000	0.21704|0.21704	TTC|TCC			0.502	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000400049.1		NM_007244		G	10999711	A	G	10999711	3	3	124	1	0	0	0	0	1	0	0	0	12619	246	9	4	52	4	PRR4	12	10999711	Missense_Mutation	SNP	A	TCGA-XE-AAOJ-01A-12D-A435-10	1740826	10999711	122852184	41	9264											
ATP7B	540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	52518252	52518252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtccacgtacctctttaCagtatttggtgactgccacg	9	12	8	12	2	1	1	0	1	1	0	2	1	2	1	3	1	3	2	3	1	4	5			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr13:52518252C>T	ENST00000242839.4	-	14	3392	c.3236G>A	c.(3235-3237)tGt>tAt	p.C1079Y	ATP7B_ENST00000344297.5_Missense_Mutation_p.C872Y|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.C649Y|ATP7B_ENST00000418097.2_Missense_Mutation_p.C1014Y|ATP7B_ENST00000400366.3_Missense_Mutation_p.C968Y|ATP7B_ENST00000448424.2_Missense_Mutation_p.C1001Y	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1079					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)	TACCTCTTTACAGTATTTGGT	0.607									Wilson disease																												p.C1079Y													.	.			0			c.G3236A												39	42	41					13																	52518252		2059	4181	6240	SO:0001583	missense	540	exon14	Familial Cancer Database		TCTTTACAGTATT	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.3236G>A	13.37:g.52518252C>T	ENSP00000242839:p.Cys1079Tyr		58	0	0		35	0.63	22	NM_000053	4	0	0	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712494	0.68730	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9	5.43	5.43	0.79202	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.94932	0.8361	N	0.10664	0.02	0.80722	D	1	D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;1.0;0.264;1.0;1.0	D;D;D;D;B;D;D	0.97110	0.998;0.997;1.0;1.0;0.04;1.0;0.999	D	0.96771	0.9568	10	0.87932	D	0	-10.3705	19.2349	0.93855	0.0:1.0:0.0:0.0	.	1001;1031;1014;649;968;872;1079	E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	Y	1079;968;872;1001;649;1014	ENSP00000242839:C1079Y;ENSP00000383217:C968Y;ENSP00000342559:C872Y;ENSP00000416738:C1001Y;ENSP00000383221:C649Y;ENSP00000393343:C1014Y	ENSP00000242839:C1079Y	C	-	2	0	ATP7B	51416253	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.770000	0.85390	2.571000	0.86741	0.561000	0.74099	TGT			0.607	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045981.1		NM_000053		T	52518252	C	T	52518252	3	4	124	1	0	0	0	0	1	0	0	0	1191	478	17	3	1193	3	ATP7B	13	52518252	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10		52518252	62651626	42	9265											
IPO5	3843	ucsc.edu;bcgsc.ca	37	chr13	98669019	98669019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattctgaccaaagtgtcaGatattttacactcaatattc	14	15	4	8	0	3	2	2	1	1	1	4	2	3	2	1	0	1	0	1	0	6	7			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr13:98669019G>T	ENST00000490680.1	+	22	2595	c.2530G>T	c.(2530-2532)Gat>Tat	p.D844Y	IPO5_ENST00000261574.5_Missense_Mutation_p.D862Y|IPO5_ENST00000539640.1_Missense_Mutation_p.D719Y			O00410	IPO5_HUMAN	importin 5	844					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CAAAGTGTCAGATATTTTACA	0.299																																					p.D862Y													.	IPO5	90		0			c.G2584T												117	116	116					13																	98669019		2203	4298	6501	SO:0001583	missense	3843	exon25			GTGTCAGATATTT	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2530G>T	13.37:g.98669019G>T	ENSP00000418393:p.Asp844Tyr		79	0	0		44	0.09	4	NM_002271	91	0	0	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.812449|4.812449	0.90707|0.90707	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.69685|.	-0.42;-0.42;-0.42;-0.42|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.042355|.	0.85682|.	D|.	0.000000|.	T|T	0.78521|0.78521	0.4296|0.4296	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.77900|0.77900	-0.2415|-0.2415	10|5	0.87932|.	D|.	0|.	-25.7432|-25.7432	19.6765|19.6765	0.95936|0.95936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	862|.	O00410-3|.	.|.	Y|H	862;844;844;719|845	ENSP00000261574:D862Y;ENSP00000350219:D844Y;ENSP00000418393:D844Y;ENSP00000445126:D719Y|.	ENSP00000261574:D862Y|.	D|Q	+|+	1|3	0|2	IPO5|IPO5	97467020|97467020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.581000|9.581000	0.98210|0.98210	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GAT|CAG			0.299	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000354655.1		NM_002271		T	98669019	G	T	98669019	3	4	124	1	0	0	0	0	1	0	0	0	7811	942	33	3	2674	3	IPO5	13	98669019	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	46150767	98669019	16500859	43	9266											
EML5	161436	broad.mit.edu	37	chr14	89093274	89093274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagagctcttcctgccaGggtccagaacttcacatgtt	11	10	9	11	0	2	3	1	0	1	3	4	3	4	3	3	1	3	2	3	1	3	3			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr14:89093274G>T	ENST00000380664.5	-	33	4623	c.4624C>A	c.(4624-4626)Ctg>Atg	p.L1542M	EML5_ENST00000554922.1_Missense_Mutation_p.L1550M|EML5_ENST00000352093.5_Missense_Mutation_p.L1504M|EML5_ENST00000553320.1_5'UTR			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1542						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTTCCTGCCAGGGTCCAGAAC	0.478																																					p.L1550M													.	EML5	141		0			c.C4648A												131	128	129					14																	89093274		1914	4130	6044	SO:0001583	missense	161436	exon34			CTGCCAGGGTCCA	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4624C>A	14.37:g.89093274G>T	ENSP00000370039:p.Leu1542Met		140	0	0		224	0.03	6	NM_183387	2	0	0	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040291	0.55003	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.48201	0.82;0.82;0.82	5.04	1.97	0.26223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000003	T	0.58004	0.2092	L	0.49571	1.57	0.38515	D	0.948575	D;D	0.89917	0.995;1.0	D;D	0.87578	0.975;0.998	T	0.60146	-0.7320	10	0.56958	D	0.05	-6.496	9.5405	0.39248	0.3122:0.0:0.6877:0.0	.	1550;1542	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	M	1550;1504;1542	ENSP00000451998:L1550M;ENSP00000298315:L1504M;ENSP00000370039:L1542M	ENSP00000298315:L1504M	L	-	1	2	EML5	88163027	0.998000	0.40836	0.996000	0.52242	0.961000	0.63080	2.812000	0.47994	0.714000	0.32081	0.655000	0.94253	CTG			0.478	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000410491.1				T	89093274	G	T	89093274	3	4	124	1	0	0	0	0	1	0	0	0	5107	991	35	3	1325	3	EML5	14	89093274	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		89093274	18256266	44	9267											
FAM98B	283742	hgsc.bcm.edu	37	chr15	38776833	38776833	+	IGR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtggtggtggtggTggaggaggtggatatagaag	7	10	24	0	0	0	1	0	0	0	1	0	4	0	4	0	11	0	0	0	11	3	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr15:38776833T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G425G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.G425G(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggaggaggtg	0.428																																					p.G425G													FAM98B_ENST00000397609,NS,carcinoma,0,2	FAM98B_ENST00000397609	0	2	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.T1275A												17	17	17					15																	38776833		1500	3373	4873	SO:0001628	intergenic_variant	283742	exon8			TGGTGGTGGAGGA		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776833T>A			82	0.012195122	1		76	0.05	4	NM_173611	0		0	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																					0.428	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252071.2		NM_173611		A	38776833	T	A	38776833	1	1	124	0	1	0	0	0	0	0	0	0	5670	1683	59	5		5	FAM98B	15	38776833	IGR	SNP	T	TCGA-XE-AAOJ-01A-12D-A435-10		38776833	63754559	45	9268											
DISP2	85455	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr15	40660083	40660083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccatgcaccacttcggCtacctgctgctggtctccgg	5	9	10	17	3	1	0	0	0	1	0	3	0	1	0	4	3	4	5	4	3	1	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr15:40660083C>T	ENST00000267889.3	+	8	1857	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	590	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		ACCACTTCGGCTACCTGCTGC	0.682																																					p.G590G													.	DISP2	86		0			c.C1770T												19	19	19					15																	40660083		2201	4297	6498	SO:0001819	synonymous_variant	85455	exon8			CTTCGGCTACCTG	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1770C>T	15.37:g.40660083C>T			10	0	0		13	0.31	4	NM_033510	0		0	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																					0.682	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252249.1		NM_033510		T	40660083	C	T	40660083	2	4	124	1	0	0	0	0	0	0	0	1	4545	784	28	2		2	DISP2	15	40660083	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	1883250	40660083	61871309	46	9269											
UNC13C	440279	bcgsc.ca;mdanderson.org	37	chr15	54592474	54592474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatcccagaagtcaaagggGatgaagcctggaaggttttc	14	8	12	7	0	1	2	1	1	0	1	3	4	2	4	2	4	1	1	2	4	5	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr15:54592474G>T	ENST00000260323.11	+	12	4171	c.4171G>T	c.(4171-4173)Gat>Tat	p.D1391Y	UNC13C_ENST00000545554.1_Missense_Mutation_p.D1391Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1389Y	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1391					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGTCAAAGGGGATGAAGCCTG	0.363																																					p.D1391Y													.	UNC13C	674		0			c.G4171T												113	107	109					15																	54592474		1838	4105	5943	SO:0001583	missense	440279	exon11			AAAGGGGATGAAG	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4171G>T	15.37:g.54592474G>T	ENSP00000260323:p.Asp1391Tyr		99	0	0		85	0.06	5	NM_001080534	1	0	0	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546999	0.86022	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81908	-1.54;-1.55;-1.54	5.61	5.61	0.85477	.	0.105528	0.64402	D	0.000006	D	0.91382	0.7281	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.993;0.95	D	0.92017	0.5623	10	0.87932	D	0	.	18.6257	0.91336	0.0:0.0:1.0:0.0	.	1391;1391	F5H090;Q8NB66	.;UN13C_HUMAN	Y	1391;1391;1389	ENSP00000260323:D1391Y;ENSP00000438156:D1391Y;ENSP00000442569:D1389Y	ENSP00000260323:D1391Y	D	+	1	0	UNC13C	52379766	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.799000	0.99117	2.640000	0.89533	0.655000	0.94253	GAT			0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000419028.3		NM_173166		T	54592474	G	T	54592474	3	4	124	1	0	0	0	0	1	0	0	0	17010	1174	41	3	4213	3	UNC13C	15	54592474	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	13932391	54592474	47938918	47	9270											
FAM100A	124402	mdanderson.org	37	chr16	4659951	4659951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagcgtcagggaagttggGgggtgtagcaggggtattgg	8	8	22	3	1	1	1	1	0	0	1	1	3	1	2	0	7	2	4	0	7	3	4	rs112538377		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr16:4659951G>T	ENST00000283474.7	-	3	345	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	UBALD1_ENST00000591897.1_Missense_Mutation_p.P13T|UBALD1_ENST00000590965.1_3'UTR|UBALD1_ENST00000587649.1_3'UTR|UBALD1_ENST00000590891.1_Missense_Mutation_p.P108T|UBALD1_ENST00000587615.1_Intron|UBALD1_ENST00000591401.1_Missense_Mutation_p.P52T	NM_145253.2	NP_660296.1	Q8TB05	UBAD1_HUMAN	UBA-like domain containing 1	73																	GGGAAGTTGGGGGGTGTAGCA	0.657																																					p.P73T													FAM100A,NS,haematopoietic_neoplasm,0,1	FAM100A	0	1	0			c.C217A												13	14	13					16																	4659951		2185	4281	6466	SO:0001583	missense	124402	exon3			AGTTGGGGGGTGT	BC025327	CCDS10518.1	16p13.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000153443	ENSG00000153443			29576	protein-coding gene	gene with protein product			"family with sequence similarity 100, member A"	FAM100A			Standard	NM_145253		Approved		uc002cwx.2	Q8TB05	OTTHUMG00000129472	ENST00000283474.7:c.217C>A	16.37:g.4659951G>T	ENSP00000283474:p.Pro73Thr		49	0	0		33	0.09	3	NM_145253	27	0	0	Q71MF6	Missense_Mutation	SNP	ENST00000283474.7	37	CCDS10518.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197635	0.79015	.	.	ENSG00000153443	ENST00000283474	.	.	.	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81856	-0.0740	9	0.87932	D	0	.	15.12	0.72434	0.0:0.0:1.0:0.0	.	13;73	D3DUE0;Q8TB05	.;F100A_HUMAN	T	73	.	ENSP00000283474:P73T	P	-	1	0	FAM100A	4599952	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.497000	0.97970	2.138000	0.66242	0.563000	0.77884	CCC			0.657	UBALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251635.2		NM_145253		T	4659951	G	T	4659951	3	4	124	1	0	0	0	0	1	0	0	0	5388	1232	43	3	320	3	FAM100A	16	4659951	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		4659951	85694802	48	9271											
ATP2C2	9914	mdanderson.org	37	chr16	84402237	84402237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatggtcgagggacgcGtctccgagttcctgaagaaa	10	8	12	11	4	2	2	1	1	1	1	5	5	3	3	3	2	0	1	3	2	2	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr16:84402237G>T	ENST00000262429.4	+	1	105	c.16G>T	c.(16-18)Gtc>Ttc	p.V6F	ATP2C2_ENST00000416219.2_Missense_Mutation_p.V6F	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	6					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						CGAGGGACGCGTCTCCGAGTT	0.706																																					p.V6F													ATP2C2,colon,carcinoma,0,1	ATP2C2	0	1	0			c.G16T												9	13	12					16																	84402237		1835	4050	5885	SO:0001583	missense	9914	exon1			GGACGCGTCTCCG	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.16G>T	16.37:g.84402237G>T	ENSP00000262429:p.Val6Phe		69	0	0		42	0.07	3	NM_014861	0		0	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	6.333	0.429618	0.11987	.	.	ENSG00000064270	ENST00000416219;ENST00000262429	D;D	0.92965	-3.14;-3.13	4.08	-0.671	0.11381	.	95.699500	0.00166	N	0.000000	T	0.82259	0.4998	N	0.08118	0	0.22989	N	0.998462	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71361	-0.4616	10	0.25106	T	0.35	.	5.815	0.18488	0.0:0.1037:0.4575:0.4388	.	6;6	E7ES94;O75185	.;AT2C2_HUMAN	F	6	ENSP00000397925:V6F;ENSP00000262429:V6F	ENSP00000262429:V6F	V	+	1	0	ATP2C2	82959738	0.997000	0.39634	0.252000	0.24328	0.015000	0.08874	0.150000	0.16263	-0.205000	0.10219	-0.578000	0.04140	GTC			0.706	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433404.1		NM_014861		T	84402237	G	T	84402237	3	4	124	1	0	0	0	0	1	0	0	0	1144	1145	40	1	18	1	ATP2C2	16	84402237	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	79742286	84402237	5952516	49	9272											
CENPBD1	92806	mdanderson.org	37	chr16	90038253	90038253	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtaacacttccaatttGaggtcaagggtaatcgcttt	10	13	9	9	3	1	1	1	1	0	0	4	1	2	1	1	2	1	3	1	2	4	5			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr16:90038253G>T	ENST00000314994.3	-	1	689	c.78C>A	c.(76-78)ctC>ctA	p.L26L	CENPBD1_ENST00000567035.1_Intron|RP11-566K11.5_ENST00000565150.1_RNA|AFG3L1P_ENST00000437774.1_RNA	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	26	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						CTTCCAATTTGAGGTCAAGGG	0.483																																					p.L26L													.	.			0			c.C78A												46	52	50					16																	90038253		2130	4249	6379	SO:0001819	synonymous_variant	92806	exon1			CAATTTGAGGTCA	AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.78C>A	16.37:g.90038253G>T			43	0	0		37	0.08	3	NM_145039	3	0	0		Silent	SNP	ENST00000314994.3	37	CCDS45556.1																																																																																					0.483	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421897.1		NM_145039		T	90038253	G	T	90038253	2	4	124	1	0	0	0	0	0	0	0	1	3230	1277	45	3		3	CENPBD1	16	90038253	Silent	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	5636016	90038253	316500	50	9273											
WDR81	124997	mdanderson.org	37	chr17	1631759	1631759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgctagaggaggaggAgggggagcaggaggaggtca	10	4	23	4	1	1	1	1	0	0	1	1	7	1	7	0	9	2	2	0	9	1	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:1631759A>G	ENST00000409644.1	+	1	3506	c.3506A>G	c.(3505-3507)gAg>gGg	p.E1169G	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.E118G|WDR81_ENST00000545662.1_5'Flank	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1169	Glu-rich.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		gaggaggaggagggggagcag	0.632																																					p.E1169G													.	.			0			c.A3506G												79	49	59					17																	1631759		2202	4296	6498	SO:0001583	missense	124997	exon1			AGGAGGAGGGGGA	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3506A>G	17.37:g.1631759A>G	ENSP00000386609:p.Glu1169Gly		75	0.0133333333	1		77	0.05	4	NM_001163809	0		0	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.561397	0.45590	.	.	ENSG00000167716	ENST00000309182;ENST00000409644	T;T	0.54675	2.24;0.56	5.91	2.4	0.29515	.	0.563886	0.17192	N	0.183473	T	0.35364	0.0929	L	0.29908	0.895	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.0	T	0.06826	-1.0805	10	0.30078	T	0.28	.	6.2583	0.20885	0.7273:0.1343:0.1384:0.0	.	296;118	Q8TEL1;Q562E7	.;WDR81_HUMAN	G	118;1169	ENSP00000312074:E118G;ENSP00000386609:E1169G	ENSP00000312074:E118G	E	+	2	0	WDR81	1578509	1.000000	0.71417	0.618000	0.29105	0.933000	0.57130	4.492000	0.60334	0.123000	0.18342	-0.250000	0.11733	GAG			0.632	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333118.2		NM_152348		G	1631759	A	G	1631759	3	3	124	1	0	0	0	0	1	0	0	0	17354	304	11	4	3570	4	WDR81	17	1631759	Missense_Mutation	SNP	A	TCGA-XE-AAOJ-01A-12D-A435-10		1631759	79563451	51	9274											
RAP1GAP2	23108	mdanderson.org	37	chr17	2901631	2901631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacatgcctacatcgtcgtGcaggtcgagaccccaggcac	9	8	10	14	3	0	1	0	0	0	1	3	2	0	1	3	2	4	2	3	2	2	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:2901631G>A	ENST00000254695.8	+	14	1251	c.1161G>A	c.(1159-1161)gtG>gtA	p.V387V	RAP1GAP2_ENST00000540393.2_Silent_p.V368V|RAP1GAP2_ENST00000542807.1_Silent_p.V387V|RAP1GAP2_ENST00000366401.4_Silent_p.V372V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	387	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ACATCGTCGTGCAGGTCGAGA	0.537																																					p.V387V													.	.			0			c.G1161A												96	97	96					17																	2901631		2055	4186	6241	SO:0001819	synonymous_variant	23108	exon14			CGTCGTGCAGGTC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1161G>A	17.37:g.2901631G>A			60	0	0		51	0.06	3	NM_015085	2	0	0	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	CCDS45573.1																																																																																					0.537	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438208.2				A	2901631	G	A	2901631	2	1	124	1	0	0	0	0	0	0	0	1	13061	1306	46	2		2	RAP1GAP2	17	2901631	Silent	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	1269872	2901631	78293579	52	9275											
P2RX5	5026	mdanderson.org	37	chr17	3593417	3593417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttatgaaaatggtgaaGtcttcggcctccttcaggaa	10	14	9	8	1	3	2	1	2	2	0	5	3	4	3	2	3	0	0	2	3	5	5			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:3593417G>T	ENST00000225328.5	-	6	959	c.561C>A	c.(559-561)gaC>gaA	p.D187E	P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.D187E|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000547178.1_Missense_Mutation_p.D187E|P2RX5_ENST00000345901.3_Missense_Mutation_p.D163E|P2RX5_ENST00000552050.1_Missense_Mutation_p.D127E|P2RX5_ENST00000551178.1_Missense_Mutation_p.D163E|P2RX5_ENST00000552276.1_Missense_Mutation_p.D187E|P2RX5_ENST00000435558.1_Missense_Mutation_p.D187E	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	187					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						AAATGGTGAAGTCTTCGGCCT	0.587																																					p.D187E													.	.			0			c.C561A												203	222	215					17																	3593417		2203	4300	6503	SO:0001583	missense	5026	exon6			GGTGAAGTCTTCG	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.561C>A	17.37:g.3593417G>T	ENSP00000225328:p.Asp187Glu		47	0	0		33	0.09	3	NM_001204519	0		0	G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	CCDS11034.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.55|17.55	3.417249|3.417249	0.62622|0.62622	.|.	.|.	ENSG00000083454|ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050|ENST00000552723	T;T;T;T;T;T|.	0.04049|.	3.72;3.72;3.72;3.72;3.72;3.72|.	5.34|5.34	3.28|3.28	0.37604|0.37604	.|.	0.360434|.	0.33854|.	N|.	0.004490|.	T|T	0.46034|0.46034	0.1372|0.1372	L|L	0.43152|0.43152	1.355|1.355	0.31806|0.31806	N|N	0.627751|0.627751	B;B;B;B;B;B|.	0.16166|.	0.016;0.009;0.009;0.009;0.011;0.009|.	B;B;B;B;B;B|.	0.23852|.	0.04;0.013;0.029;0.013;0.049;0.029|.	T|T	0.51466|0.51466	-0.8702|-0.8702	10|5	0.87932|.	D|.	0|.	-7.881|-7.881	10.8667|10.8667	0.46860|0.46860	0.0:0.1289:0.7095:0.1616|0.0:0.1289:0.7095:0.1616	.|.	127;163;187;163;187;187|.	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4|.	.;.;.;.;P2RX5_HUMAN;.|.	E|I	187;163;187;187;163;127|135	ENSP00000415370:D187E;ENSP00000447545:D163E;ENSP00000448355:D187E;ENSP00000225328:D187E;ENSP00000342161:D163E;ENSP00000450006:D127E|.	ENSP00000225328:D187E|.	D|L	-|-	3|1	2|0	P2RX5|P2RX5	3540166|3540166	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.924000|0.924000	0.55760|0.55760	2.831000|2.831000	0.48144|0.48144	0.661000|0.661000	0.30985|0.30985	0.655000|0.655000	0.94253|0.94253	GAC|CTT			0.587	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207388.3		NM_002561, NM_175080, NM_175081		T	3593417	G	T	3593417	3	4	124	1	0	0	0	0	1	0	0	0	11360	1020	36	3	735	3	P2RX5	17	3593417	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	691786	3593417	77601793	53	9276											
ANKFY1	51479	mdanderson.org	37	chr17	4086823	4086823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctccagagcccagcaGctgggctgcgatcgtgtgca	6	6	16	13	3	0	1	0	0	0	1	2	2	1	1	2	3	5	5	2	3	0	0			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:4086823G>T	ENST00000341657.4	-	14	1857	c.1822C>A	c.(1822-1824)Ctg>Atg	p.L608M	ANKFY1_ENST00000570535.1_Missense_Mutation_p.L650M|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.L608M|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000573722.1_5'Flank	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	608					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GAGCCCAGCAGCTGGGCTGCG	0.587																																					p.L650M													.	.			0			c.C1948A												57	58	58					17																	4086823		2080	4203	6283	SO:0001583	missense	51479	exon14			CCAGCAGCTGGGC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1822C>A	17.37:g.4086823G>T	ENSP00000343362:p.Leu608Met		35	0	0		39	0.08	3	NM_001257999	7	0	0	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	G	34	5.343753	0.95807	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	D	0.83992	-1.79	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	D	0.93588	0.7953	M	0.93462	3.42	0.80722	D	1	D;P;P;D	0.89917	1.0;0.942;0.928;0.959	D;P;P;P	0.87578	0.998;0.867;0.79;0.79	D	0.95036	0.8174	10	0.87932	D	0	-5.3278	18.0864	0.89458	0.0:0.0:1.0:0.0	.	549;608;608;650	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	M	608;549	ENSP00000343362:L608M	ENSP00000343362:L608M	L	-	1	2	ANKFY1	4033572	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.491000	0.66887	2.503000	0.84419	0.655000	0.94253	CTG			0.587	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000438702.1		NM_016376		T	4086823	G	T	4086823	3	4	124	1	0	0	0	0	1	0	0	0	626	962	34	2	1738	2	ANKFY1	17	4086823	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	493406	4086823	77108387	54	9277											
DNAH2	146754	broad.mit.edu	37	chr17	7661813	7661813	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggcctctcttatgcacagGattattgccatgctgtcccc	7	12	8	14	0	1	0	0	0	1	0	3	1	2	1	4	2	3	2	4	2	2	3			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:7661813G>T	ENST00000572933.1	+	14	3512	c.2052G>T	c.(2050-2052)agG>agT	p.R684S	DNAH2_ENST00000389173.2_Splice_Site_p.R684S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	684	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)				TTATGCACAGGATTATTGCCA	0.502																																					p.R684S													.	DNAH2	498		0			c.G2052T												150	150	150					17																	7661813		2203	4300	6503	SO:0001630	splice_region_variant	146754	exon13			GCACAGGATTATT	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.2052-1G>T	17.37:g.7661813G>T			109	0	0		108	0.04	4	NM_020877	0		0	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571877	0.28003	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.55413	0.52	5.91	3.94	0.45596	Dynein heavy chain, domain-1 (1);	0.105028	0.64402	D	0.000007	T	0.47002	0.1422	L	0.60957	1.885	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34551	-0.9824	9	.	.	.	.	11.4963	0.50410	0.1465:0.0:0.8535:0.0	.	684	Q9P225	DYH2_HUMAN	S	684	ENSP00000373825:R684S	.	R	+	3	2	DNAH2	7602538	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.594000	0.46189	0.848000	0.35191	0.555000	0.69702	AGG			0.502	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440241.1		NM_020877	Missense_Mutation	T	7661813	G	T	7661813	5	4	124	1	0	0	0	0	0	0	1	0	4607	1188	41	3	2102	3	DNAH2	17	7661813	Splice_Site	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	3574990	7661813	73533397	55	9278											
GUCY2D	3000	mdanderson.org	37	chr17	7907368	7907368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttcgcagggcccacgatgCcgtgctcaccctcacgcgcc	5	6	11	19	5	2	0	2	0	0	0	3	1	2	0	4	1	2	3	4	1	0	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:7907368C>T	ENST00000254854.4	+	3	1070	c.920C>T	c.(919-921)gCc>gTc	p.A307V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	307					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)			skin(1)	1		Prostate(122;0.157)				GCCCACGATGCCGTGCTCACC	0.672																																					p.A307V													.	.			0			c.C920T												66	69	68					17																	7907368		2203	4299	6502	SO:0001583	missense	3000	exon3			ACGATGCCGTGCT	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.920C>T	17.37:g.7907368C>T	ENSP00000254854:p.Ala307Val		30	0	0		15	0.13	2	NM_000180	0		0	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970782	0.92919	.	.	ENSG00000132518	ENST00000254854	D	0.84298	-1.83	4.63	4.63	0.57726	Extracellular ligand-binding receptor (1);	0.000000	0.47093	D	0.000254	D	0.92192	0.7524	M	0.81802	2.56	0.48830	D	0.999711	D	0.76494	0.999	D	0.73380	0.98	D	0.93141	0.6541	10	0.66056	D	0.02	.	16.443	0.83907	0.0:1.0:0.0:0.0	.	307	Q02846	GUC2D_HUMAN	V	307	ENSP00000254854:A307V	ENSP00000254854:A307V	A	+	2	0	GUCY2D	7848093	0.999000	0.42202	0.979000	0.43373	0.712000	0.41017	4.346000	0.59367	2.420000	0.82092	0.561000	0.74099	GCC			0.672	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226973.2				T	7907368	C	T	7907368	3	4	124	1	0	0	0	0	1	0	0	0	6912	739	26	2	926	2	GUCY2D	17	7907368	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	245555	7907368	73287842	56	9279											
EVPLL	645027	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	18286644	18286644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaccagctggaggaggaCggcaagcgcatggtggagct	11	5	17	8	2	0	0	0	0	0	0	0	4	0	4	1	6	4	5	1	6	3	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:18286644C>A	ENST00000399134.4	+	8	1090	c.732C>A	c.(730-732)gaC>gaA	p.D244E	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	244										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGGAGGAGGACGGCAAGCGCA	0.701																																					p.D244E													.	.			0			c.C732A												30	37	35					17																	18286644		691	1591	2282	SO:0001583	missense	645027	exon8			GGAGGACGGCAAG		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.732C>A	17.37:g.18286644C>A	ENSP00000382086:p.Asp244Glu		57	0	0		32	0.38	12	NM_001145127	0		0	B4DPD4	Missense_Mutation	SNP	ENST00000399134.4	37	CCDS45626.1	.	.	.	.	.	.	.	.	.	.	.	9.108	1.005890	0.19199	.	.	ENSG00000214860	ENST00000399134	T	0.29655	1.56	0.505	0.505	0.16953	.	.	.	.	.	T	0.38374	0.1038	L	0.48642	1.525	0.25778	N	0.984761	D	0.67145	0.996	D	0.77004	0.989	T	0.28396	-1.0045	8	0.06891	T	0.86	.	.	.	.	.	244	A8MZ36	EVPLL_HUMAN	E	244	ENSP00000382086:D244E	ENSP00000382086:D244E	D	+	3	2	EVPLL	18227369	0.726000	0.28059	0.975000	0.42487	0.047000	0.14425	-1.320000	0.02700	0.554000	0.29061	0.089000	0.15464	GAC			0.701	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000130836.2		NM_001145127		A	18286644	C	A	18286644	3	1	124	1	0	0	0	0	1	0	0	0	5300	535	19	1	758	1	EVPLL	17	18286644	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	10379276	18286644	62908566	57	9280											
GRP	2922	broad.mit.edu	37	chr18	56887556	56887556	+	Frame_Shift_Del	DEL	G	G	-																															ggtcctctgcctggcgccccGggggcgagcggtcccgctgc																										TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr18:56887556delG	ENST00000256857.2	+	1	157	c.59delG	c.(58-60)cggfs	p.R20fs	GRP_ENST00000529320.2_Frame_Shift_Del_p.R20fs|GRP_ENST00000420468.2_Frame_Shift_Del_p.R20fs	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	20					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				CTGGCGCCCCGGGGGCGAGCG	0.756																																					p.R20fs													.	GRP	17		0			c.59delG												3	4	4					18																	56887556		1956	3802	5758	SO:0001589	frameshift_variant	2922	exon1			CGCCCCGGGGGCG		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"Endogenous ligands"	4605	protein-coding gene	gene with protein product	"bombesin", "neuromedin C", "prepro-GRP"	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.59delG	18.37:g.56887556delG	ENSP00000256857:p.Arg20fs		10	0	0		6	0.33	2	NM_001012512	9	0	0	P07491|P81553|Q14454|Q53YA0|Q9BSY7	Frame_Shift_Del	DEL	ENST00000256857.2	37	CCDS11971.1																																																																																					0.756	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256131.2		NM_002091		-	56887556	G	-	56887556	7	5	124	1	0	1	0	1	0	0	0	0	6820	1116	39	0	61	0	GRP	18	56887556	Frame_Shift_Del	DEL	G	TCGA-XE-AAOJ-01A-12D-A435-10		56887556	21189692	58	9281											
REEP6	92840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1496340	1496340	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaacggggctctcatgctGtatcagcgcgtcgtgcgtcc	5	10	14	12	5	2	0	2	0	1	0	5	1	3	1	1	3	4	3	1	3	2	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr19:1496340G>A	ENST00000233596.3	+	4	509	c.405G>A	c.(403-405)ctG>ctA	p.L135L		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	135					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)		CTCTCATGCTGTATCAGCGCG	0.667																																					p.L135L													.	.			0			c.G405A												80	70	74					19																	1496340		2202	4298	6500	SO:0001819	synonymous_variant	92840	exon4			CATGCTGTATCAG	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	ENST00000233596.3:c.405G>A	19.37:g.1496340G>A			47	0	0		50	0.24	12	NM_138393	53	0.36	19	B2RE01|D6W5Z0|Q96LM0	Silent	SNP	ENST00000233596.3	37	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530039	0.45073	.	.	ENSG00000115255	ENST00000395484	.	.	.	4.97	-6.28	0.02020	.	.	.	.	.	T	0.48840	0.1522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52646	-0.8548	5	0.28530	T	0.3	-0.7922	8.7561	0.34645	0.2892:0.5137:0.1971:0.0	.	.	.	.	I	203	.	ENSP00000378865:V203I	V	+	1	0	REEP6	1447340	0.846000	0.29590	0.018000	0.16275	0.003000	0.03518	-0.106000	0.10890	-0.824000	0.04295	-1.132000	0.01976	GTA			0.667	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449623.1		NM_138393		A	1496340	G	A	1496340	2	1	124	1	0	0	0	0	0	0	0	1	13232	1364	48	3		3	REEP6	19	1496340	Silent	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		1496340	57632643	59	9282											
MRI1	84245	mdanderson.org	37	chr19	13879417	13879417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgggccgcctggagcatgCcttctgcacagagacccggc	6	6	13	16	2	1	1	0	0	1	1	1	3	1	2	5	3	3	2	5	3	0	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr19:13879417C>T	ENST00000040663.6	+	4	630	c.590C>T	c.(589-591)gCc>gTc	p.A197V	MRI1_ENST00000319545.8_Intron	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTGGAGCATGCCTTCTGCACA	0.662																																					p.A197V													.	.			0			c.C590T												25	28	27					19																	13879417		2203	4300	6503	SO:0001583	missense	84245	exon4			AGCATGCCTTCTG		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"mediator of RhoA-dependent invasion", "S-methyl-5-thioribose-1-phosphate isomerase 1"	615105	"methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.590C>T	19.37:g.13879417C>T	ENSP00000040663:p.Ala197Val		51	0	0		30	0.1	3	NM_001031727	31	0	0		Missense_Mutation	SNP	ENST00000040663.6	37	CCDS32923.1	.	.	.	.	.	.	.	.	.	.	C	1.437	-0.568746	0.03910	.	.	ENSG00000037757	ENST00000040663	D	0.83591	-1.74	5.43	0.382	0.16234	.	0.251127	0.38436	N	0.001683	T	0.55049	0.1896	N	0.04018	-0.295	0.24949	N	0.991807	B	0.06786	0.001	B	0.15052	0.012	T	0.48479	-0.9032	10	0.02654	T	1	-8.6623	6.8052	0.23774	0.0:0.4886:0.0:0.5114	.	197	Q9BV20	MTNA_HUMAN	V	197	ENSP00000040663:A197V	ENSP00000040663:A197V	A	+	2	0	MRI1	13740417	1.000000	0.71417	0.645000	0.29479	0.047000	0.14425	4.343000	0.59348	0.359000	0.24239	-0.216000	0.12614	GCC			0.662	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453424.1		NM_032285		T	13879417	C	T	13879417	3	4	124	1	0	0	0	0	1	0	0	0	9786	739	26	2	697	2	MRI1	19	13879417	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	12383077	13879417	45249566	60	9283											
TMC4	147798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	54668249	54668249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaccaccagcaggttgagCagcacccgcaccaaccaaac	13	2	9	17	2	0	1	0	1	0	0	0	2	0	1	5	1	5	5	5	1	2	1			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr19:54668249C>T	ENST00000376591.4	-	7	1181	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Silent_p.L344L|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	350					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAGGTTGAGCAGCACCCGCA	0.672																																					p.L350L													.	.			0			c.G1050A												92	98	96					19																	54668249		2203	4300	6503	SO:0001819	synonymous_variant	147798	exon7			GTTGAGCAGCACC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1050G>A	19.37:g.54668249C>T			68	0	0		62	0.32	20	NM_001145303	5	0.4	2	Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	CCDS46174.1																																																																																					0.672	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000156164.2				T	54668249	C	T	54668249	2	4	124	1	0	0	0	0	0	0	0	1	16010	697	25	2		2	TMC4	19	54668249	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	40788832	54668249	4460734	61	9284											
TMEM190	147744	mdanderson.org	37	chr19	55889031	55889031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgatagccccaacctctgCctgcgtctccggtgctgcta	6	10	9	16	3	2	0	0	0	2	0	4	1	2	0	5	1	6	2	5	1	3	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr19:55889031C>T	ENST00000291934.3	+	3	183	c.165C>T	c.(163-165)tgC>tgT	p.C55C	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	55	P-type.				hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCAACCTCTGCCTGCGTCTCC	0.672																																					p.C55C													.	.			0			c.C165T												82	85	84					19																	55889031		2203	4300	6503	SO:0001819	synonymous_variant	147744	exon3			CCTCTGCCTGCGT	AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.165C>T	19.37:g.55889031C>T			48	0	0		41	0.07	3	NM_139172	7	0	0	A6NJL5	Silent	SNP	ENST00000291934.3	37	CCDS33113.1																																																																																					0.672	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453042.1		NM_139172		T	55889031	C	T	55889031	2	4	124	1	0	0	0	0	0	0	0	1	16137	747	26	2		2	TMEM190	19	55889031	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	1220782	55889031	3239952	62	9285											
ZNF217	7764	hgsc.bcm.edu;mdanderson.org	37	chr20	52199327	52199327	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatccatgtacattaagagGgattgagttggcatgtttcc	10	13	10	8	0	0	2	0	1	0	1	2	3	2	3	3	2	1	4	3	2	2	5			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr20:52199327G>T	ENST00000371471.2	-	2	464	c.39C>A	c.(37-39)tcC>tcA	p.S13S	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Silent_p.S13S			O75362	ZN217_HUMAN	zinc finger protein 217	13					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACATTAAGAGGGATTGAGTTG	0.463																																					p.S13S													.	.			0			c.C39A												98	95	96					20																	52199327		2203	4300	6503	SO:0001819	synonymous_variant	7764	exon1			TAAGAGGGATTGA	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.39C>A	20.37:g.52199327G>T			56	0	0		91	0.04	4	NM_006526	8	0	0	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																					0.463	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079757.2		NM_006526		T	52199327	G	T	52199327	2	4	124	1	0	0	0	0	0	0	0	1	17795	1219	43	3		3	ZNF217	20	52199327	Silent	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		52199327	10826193	63	9286											
SLC2A4RG	56731	mdanderson.org	37	chr20	62374111	62374111	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcggagcctgcccaccCgccttgtcctccaggatcgg	5	7	13	16	3	0	0	0	0	0	0	4	3	2	2	6	4	2	0	6	4	0	1	rs563472148		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr20:62374111C>A	ENST00000266077.2	+	7	1072	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P	SLC2A4RG_ENST00000493772.1_3'UTR|RP4-583P15.10_ENST00000447343.2_RNA|RP4-583P15.10_ENST00000433905.2_RNA	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	340					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)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTGCCCACCCGCCTTGTCCT	0.701																																					p.P340P													.	.			0			c.C1020A												13	15	14					20																	62374111		2180	4289	6469	SO:0001819	synonymous_variant	56731	exon7			CCCACCCGCCTTG	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"GLUT4 enhancer factor", "Huntington's disease gene regulatory region-binding protein 1"	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.1020C>A	20.37:g.62374111C>A			26	0	0		30	0.1	3	NM_020062	217	0	0	Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Silent	SNP	ENST00000266077.2	37	CCDS13537.1																																																																																					0.701	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080202.1		NM_020062		A	62374111	C	A	62374111	2	1	124	1	0	0	0	0	0	0	0	1	14570	639	23	1		1	SLC2A4RG	20	62374111	Silent	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	10174784	62374111	651409	64	9287											
SFRS15	57466	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr21	33044299	33044310	+	In_Frame_Del	DEL	GCTGTGGCTGCT	GCTGTGGCTGCT	-																															tggttgctggggcgcctgcgGctgtggctgctgctgtggct																								rs535235907		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	GCTGTGGCTGCT	GCTGTGGCTGCT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr21:33044299_33044310delGCTGTGGCTGCT	ENST00000286835.7	-	20	3228_3239	c.2846_2857delAGCAGCCACAGC	c.(2845-2859)cagcagccacagccg>ccg	p.QQPQ949del	SCAF4_ENST00000434667.3_In_Frame_Del_p.QQPQ934del|SCAF4_ENST00000399804.1_In_Frame_Del_p.QQPQ927del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	949						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						ggcgcctgcggctgtggctgctgctgtggctg	0.651																																					p.949_953del													.	SCAF4	142		0			c.2847_2858del								,,	3,4237		0,3,2117					,,	-2.3	0.3			39	5,8193		1,3,4095	no	coding,coding,coding	SCAF4	NM_020706.2,NM_001145445.1,NM_001145444.1	,,	1,6,6212	A1A1,A1R,RR		0.061,0.0708,0.0643	,,	,,		8,12430				SO:0001651	inframe_deletion	57466	exon20			CCTGCGGCTGTGG	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.2846_2857delAGCAGCCACAGC	21.37:g.33044299_33044310delGCTGTGGCTGCT	ENSP00000286835:p.Gln949_Gln952del		49	0	0		93	0.38	35	NM_020706	90	0	0	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	CCDS33537.1																																																																																					0.651	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000192659.1		XM_047889		-	33044310	GCTGTGGCTGCT	-	33044299	7	5	124	1	0	1	0	1	0	0	0	0	14194	1203	42	0	590	0	SFRS15	21	33044299	In_Frame_Del	DEL	GCTGTGGCTGCT	TCGA-XE-AAOJ-01A-12D-A435-10		33044299	15085596	65	9288											
CBS	875	hgsc.bcm.edu;mdanderson.org	37	chr21	44479351	44479351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccagggcttcttctccGtgaggtcctcctccttcaga	5	13	8	15	1	3	2	1	1	2	1	7	2	6	2	5	2	1	1	5	2	1	4			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr21:44479351G>T	ENST00000398165.3	-	13	1467	c.1208C>A	c.(1207-1209)aCg>aAg	p.T403K	CBS_ENST00000359624.3_Missense_Mutation_p.T403K|CBS_ENST00000398158.1_Missense_Mutation_p.T403K|CBS_ENST00000544202.1_Missense_Mutation_p.T315K|CBS_ENST00000352178.5_Missense_Mutation_p.T403K|CBS_ENST00000398168.1_Missense_Mutation_p.T403K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	403					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CTTCTTCTCCGTGAGGTCCTC	0.667																																					p.T403K													.	.			0			c.C1208A												78	76	77					21																	44479351		2203	4300	6503	SO:0001583	missense	875	exon13			TTCTCCGTGAGGT	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1208C>A	21.37:g.44479351G>T	ENSP00000381231:p.Thr403Lys		48	0	0		76	0.05	4	NM_000071	119	0.01	1	B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	G	0.657	-0.807357	0.02819	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	D;D;D;D;D;D	0.99760	-5.76;-5.76;-5.76;-5.76;-5.75;-6.66	4.6	-4.6	0.03390	.	1.274230	0.05191	N	0.503174	D	0.98277	0.9429	L	0.29908	0.895	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	D	0.99960	1.1713	10	0.06099	T	0.92	0.05	12.5384	0.56154	0.6438:0.0:0.3562:0.0	.	403;403;360	P35520-2;P35520;B7Z2D6	.;CBS_HUMAN;.	K	403;403;403;403;403;360;315	ENSP00000381225:T403K;ENSP00000381231:T403K;ENSP00000352643:T403K;ENSP00000344460:T403K;ENSP00000381234:T403K;ENSP00000439332:T315K	ENSP00000344460:T403K	T	-	2	0	CBS	43352420	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.328000	0.07945	-0.869000	0.04052	-1.265000	0.01443	ACG			0.667	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195525.1		NM_000071		T	44479351	G	T	44479351	3	4	124	1	0	0	0	0	1	0	0	0	2713	1145	40	1	467	1	CBS	21	44479351	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	11435052	44479351	3650544	66	9289											
KRTAP10-10	353333	mdanderson.org	37	chr21	46058034	46058034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctcctctgccgccccGtgtgctcccgccctgcctgc	0	11	8	22	3	1	0	0	0	1	0	4	0	4	0	8	0	4	1	8	0	0	1	rs142158982	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr21:46058034G>A	ENST00000380095.1	+	1	762	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	234						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCGCCCCGTGTGCTCCCG	0.692																																					p.V234M													.	.			0			c.G700A							G	,MET/VAL	54,4352		0,54,2149	54	58	57		,700	-2.9	0	21	dbSNP_134	57	16,8582		0,16,4283	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	0,70,6432	AA,AG,GG		0.1861,1.2256,0.5383	,possibly-damaging	,234/252	46058034	70,12934	2203	4299	6502	SO:0001583	missense	353333	exon1			CGCCCCGTGTGCT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.700G>A	21.37:g.46058034G>A	ENSP00000369438:p.Val234Met		43	0.023255814	1		85	0.07	6	NM_181688	0		0		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	94	0.04304029304029304	28	0.056910569105691054	7	0.019337016574585635	29	0.050699300699300696	30	0.0395778364116095	g	0.883	-0.728095	0.03135	0.012256	0.001861	ENSG00000221859	ENST00000380095	T	0.01215	5.16	3.52	-2.88	0.05682	.	.	.	.	.	T	0.00241	0.0007	M	0.71206	2.165	0.09310	N	1	B	0.20459	0.045	B	0.20955	0.032	T	0.38178	-0.9673	9	0.42905	T	0.14	.	5.1831	0.15171	0.3582:0.0:0.4952:0.1466	.	234	P60014	KR10A_HUMAN	M	234	ENSP00000369438:V234M	ENSP00000369438:V234M	V	+	1	0	KRTAP10-10	44882462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.581000	0.02119	-0.564000	0.06070	-1.314000	0.01303	GTG			0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688		A	46058034	G	A	46058034	3	1	124	1	0	0	0	0	1	0	0	0	8521	1145	40	1	702	1	KRTAP10-10	21	46058034	Missense_Mutation	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10	1578683	46058034	2071861	67	9290											
IL17RA	23765	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr22	17584446	17584446	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctacgcaaccttaaaggGtgctgtcgccaccaagtgca	11	8	9	13	2	1	0	0	0	1	0	2	0	1	0	3	1	4	3	3	1	5	2			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr22:17584446G>T	ENST00000319363.6	+	8	958	c.825G>T	c.(823-825)ggG>ggT	p.G275G		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	275					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)		ACCTTAAAGGGTGCTGTCGCC	0.557																																					p.G275G													.	.			0			c.G825T												106	65	79					22																	17584446		2203	4300	6503	SO:0001819	synonymous_variant	23765	exon8			TAAAGGGTGCTGT	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.825G>T	22.37:g.17584446G>T			63	0	0		83	0.07	6	NM_014339	12	0.17	2	O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	CCDS13739.1																																																																																					0.557	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315820.1		NM_014339		T	17584446	G	T	17584446	2	4	124	1	0	0	0	0	0	0	0	1	7654	1248	44	3		3	IL17RA	22	17584446	Silent	SNP	G	TCGA-XE-AAOJ-01A-12D-A435-10		17584446	33720120	68	9291											
MTMR3	8897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	30416250	30416250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcatcatagatcttgcCttgtaaatagtggcaaggac	13	11	10	7	0	3	1	2	0	1	1	3	2	3	2	1	3	1	2	1	3	6	5			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr22:30416250C>T	ENST00000401950.2	+	17	2944	c.2602C>T	c.(2602-2604)Ctt>Ttt	p.L868F	MTMR3_ENST00000323630.5_Missense_Mutation_p.L732F|MTMR3_ENST00000406629.1_Missense_Mutation_p.L868F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.L868F|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.L868F	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	868					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TAGATCTTGCCTTGTAAATAG	0.512																																					p.L868F													.	.			0			c.C2602T												68	65	66					22																	30416250		2203	4300	6503	SO:0001583	missense	8897	exon17			TCTTGCCTTGTAA	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2602C>T	22.37:g.30416250C>T	ENSP00000384651:p.Leu868Phe		68	0	0		96	0.4	38	NM_153050	13	0.31	4	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427263	0.25726	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94723	-3.29;-3.27;-3.5;-3.32;-3.27	5.19	4.17	0.49024	.	4.193610	0.00166	N	0.000014	D	0.94003	0.8079	N	0.19112	0.55	0.20307	N	0.999911	D;P;D	0.54964	0.969;0.948;0.969	P;P;P	0.57620	0.824;0.671;0.824	D	0.85382	0.1120	10	0.15066	T	0.55	.	13.0586	0.58994	0.0:0.922:0.0:0.078	.	868;868;868	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	F	868;868;732;868;868	ENSP00000384651:L868F;ENSP00000331649:L868F;ENSP00000318070:L732F;ENSP00000307271:L868F;ENSP00000384077:L868F	ENSP00000318070:L732F	L	+	1	0	MTMR3	28746250	0.005000	0.15991	0.072000	0.20136	0.008000	0.06430	1.145000	0.31577	1.312000	0.45043	0.655000	0.94253	CTT			0.512	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000322066.1		NM_021090		T	30416250	C	T	30416250	3	4	124	1	0	0	0	0	1	0	0	0	9961	681	24	3	2660	3	MTMR3	22	30416250	Missense_Mutation	SNP	C	TCGA-XE-AAOJ-01A-12D-A435-10	12831804	30416250	20888316	69	9292											
CSMD2	114784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	34209037	34209037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggccccatccttgatgaCcaggaaatcaaactgaggct	11	8	11	11	0	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	2	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:34209037C>A	ENST00000373381.4	-	14	2193	c.2017G>T	c.(2017-2019)Gtc>Ttc	p.V673F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	633	CUB 4. {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)				TCCTTGATGACCAGGAAATCA	0.617																																					p.V633F													.	.			0			c.G1897T												78	79	79					1																	34209037		2203	4300	6503	SO:0001583	missense	114784	exon14			TGATGACCAGGAA	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.2017G>T	1.37:g.34209037C>A	ENSP00000362479:p.Val673Phe		57	0	0		55	0.22	12	NM_052896	0		0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	20.5	3.996432	0.74818	.	.	ENSG00000121904	ENST00000373381	T	0.18174	2.23	5.69	5.69	0.88448	CUB (5);	0.130894	0.52532	D	0.000074	T	0.27697	0.0681	N	0.25890	0.77	0.80722	D	1	P;P	0.49307	0.922;0.747	P;P	0.57009	0.811;0.74	T	0.00601	-1.1650	10	0.59425	D	0.04	.	19.1688	0.93569	0.0:1.0:0.0:0.0	.	633;673	Q7Z408;E7EUA6	CSMD2_HUMAN;.	F	673	ENSP00000362479:V673F	ENSP00000241312:V633F	V	-	1	0	CSMD2	33981624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.014000	0.64029	2.840000	0.97914	0.655000	0.94253	GTC			0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_052896		A	34209037	C	A	34209037	3	1	125	1	0	0	0	0	1	0	0	0	3947	507	18	3	8790	3	CSMD2	1	34209037	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10		34209037	215041584	1	9293											
DMAP1	55929	mdanderson.org	37	chr1	44685093	44685093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggctgttcctgagactGcaggcatcaagtttccagac	9	9	10	13	0	1	2	1	1	0	2	3	3	3	2	3	2	1	5	3	2	1	2			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:44685093G>T	ENST00000372289.2	+	7	1185	c.922G>T	c.(922-924)Gca>Tca	p.A308S	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.A308S|DMAP1_ENST00000361745.6_Missense_Mutation_p.A308S	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	308					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TCCTGAGACTGCAGGCATCAA	0.572																																					p.A308S													.	.			0			c.G922T												91	75	80					1																	44685093		2203	4300	6503	SO:0001583	missense	55929	exon8			GAGACTGCAGGCA	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.922G>T	1.37:g.44685093G>T	ENSP00000361363:p.Ala308Ser		48	0	0		41	0.07	3	NM_001034024	32	0	0	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393187	0.42410	.	.	ENSG00000178028	ENST00000361745;ENST00000315913;ENST00000372289	.	.	.	4.33	4.33	0.51752	DNA methyltransferase 1-associated 1 (2);	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	L	0.34521	1.04	0.80722	D	1	B;P	0.37573	0.228;0.6	B;B	0.35931	0.164;0.214	T	0.37731	-0.9693	9	0.09590	T	0.72	-14.9834	17.3607	0.87349	0.0:0.0:1.0:0.0	.	298;308	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	S	308	.	ENSP00000312697:A308S	A	+	1	0	DMAP1	44457680	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.218000	0.95166	2.420000	0.82092	0.491000	0.48974	GCA			0.572	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000020027.3		NM_019100		T	44685093	G	T	44685093	3	4	125	1	0	0	0	0	1	0	0	0	4581	1319	46	2	948	2	DMAP1	1	44685093	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	10476056	44685093	204565528	2	9294											
TCTEX1D4	343521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	45271711	45271711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtggaccgtggccaccgcGaagagcgaggtgttggtgta	7	7	17	10	5	0	1	0	0	0	1	0	4	0	2	4	4	1	2	4	4	2	2			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:45271711G>A	ENST00000339355.2	-	1	636	c.630C>T	c.(628-630)ttC>ttT	p.F210F	BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000450269.1_5'Flank|TCTEX1D4_ENST00000372200.1_Silent_p.F210F			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	210						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGGCCACCGCGAAGAGCGAGG	0.657																																					p.F210F													.	.			0			c.C630T												19	21	20					1																	45271711		2200	4297	6497	SO:0001819	synonymous_variant	343521	exon2			CACCGCGAAGAGC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.630C>T	1.37:g.45271711G>A			66	0	0		67	0.28	19	NM_001013632	1	1	1		Silent	SNP	ENST00000339355.2	37	CCDS30699.1																																																																																					0.657	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000023733.1		NM_001013632		A	45271711	G	A	45271711	2	1	125	1	0	0	0	0	0	0	0	1	15744	1049	37	1		1	TCTEX1D4	1	45271711	Silent	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	586618	45271711	203978910	3	9295											
TMEM48	55706	mdanderson.org	37	chr1	54291599	54291599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taagcaggtttgcgcagcagGgctaccaaagctgaagggaa	13	6	14	8	1	0	1	0	1	0	0	0	2	0	2	1	3	5	6	1	3	5	3			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:54291599G>T	ENST00000371429.3	-	5	1064	c.466C>A	c.(466-468)Cct>Act	p.P156T	AL049745.1_ENST00000578163.1_RNA|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_Missense_Mutation_p.P41T|NDC1_ENST00000540001.1_Missense_Mutation_p.P156T	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	156					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TGCGCAGCAGGGCTACCAAAG	0.368																																					p.P156T													.	.			0			c.C466A												69	71	70					1																	54291599		2203	4300	6503	SO:0001583	missense	55706	exon5			CAGCAGGGCTACC	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.466C>A	1.37:g.54291599G>T	ENSP00000360483:p.Pro156Thr		44	0	0		31	0.1	3	NM_018087	1	0	0	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	G	3.584	-0.085097	0.07097	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000234725	T;T;T	0.39229	1.09;1.09;1.09	5.26	2.21	0.28008	.	0.708050	0.14423	N	0.320535	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B	0.27971	0.101;0.196	B;B	0.26310	0.049;0.068	T	0.13980	-1.0489	10	0.14656	T	0.56	.	2.167	0.03840	0.1803:0.2525:0.4405:0.1267	.	116;156	B4DHA3;Q9BTX1	.;NDC1_HUMAN	T	156;156;156;41	ENSP00000360483:P156T;ENSP00000440873:P156T;ENSP00000234725:P41T	ENSP00000234725:P41T	P	-	1	0	TMEM48	54064187	0.887000	0.30362	0.604000	0.28916	0.402000	0.30811	1.253000	0.32886	1.369000	0.46134	0.460000	0.39030	CCT			0.368	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022101.1		NM_018087		T	54291599	G	T	54291599	3	4	125	1	0	0	0	0	1	0	0	0	16195	1232	43	3	1614	3	TMEM48	1	54291599	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	9019888	54291599	194959022	4	9296											
MAGI3	260425	broad.mit.edu	37	chr1	114215976	114215976	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccagtagagctggagagAggcccccggggctttggatt	8	9	15	9	1	0	2	0	0	0	2	1	5	1	4	3	5	1	3	3	5	2	4			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:114215976A>G	ENST00000307546.9	+	19	3153	c.3078A>G	c.(3076-3078)agA>agG	p.R1026R	MAGI3_ENST00000369611.4_Silent_p.R1026R|MAGI3_ENST00000369615.1_Silent_p.R1026R|MAGI3_ENST00000369617.4_Silent_p.R1051R	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1051					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)		AGCTGGAGAGAGGCCCCCGGG	0.468																																					p.R1026R													.	MAGI3	181		0			c.A3078G												68	76	73					1																	114215976		2203	4300	6503	SO:0001819	synonymous_variant	260425	exon19			GGAGAGAGGCCCC	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.3078A>G	1.37:g.114215976A>G			133	0	0		129	0.02	3	NM_152900	0		0	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	CCDS44196.1																																																																																					0.468	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000032429.1		NM_152900		G	114215976	A	G	114215976	2	3	125	1	0	0	0	0	0	0	0	1	9208	301	11	4		4	MAGI3	1	114215976	Silent	SNP	A	TCGA-XE-AAOL-01A-11D-A435-10	59924377	114215976	135034645	5	9297											
TRIM45	80263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	117663450	117663450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccttccccacgtaggCtctccagcatcacatcattc	7	10	6	18	1	3	0	2	0	1	0	6	0	4	0	5	2	1	3	5	2	1	3			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:117663450C>T	ENST00000256649.4	-	1	900	c.374G>A	c.(373-375)aGc>aAc	p.S125N	TRIM45_ENST00000369464.3_Missense_Mutation_p.S125N|TRIM45_ENST00000369461.3_Missense_Mutation_p.S68N	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	125					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CCCACGTAGGCTCTCCAGCAT	0.557																																					p.S125N													.	.			0			c.G374A												93	78	83					1																	117663450		2203	4300	6503	SO:0001583	missense	80263	exon1			CGTAGGCTCTCCA		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.374G>A	1.37:g.117663450C>T	ENSP00000256649:p.Ser125Asn		120	0	0		103	0.25	26	NM_001145635	1	1	1	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	9.906	1.208258	0.22205	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;D;T	0.82893	-1.49;-1.66;-1.19	5.0	-0.434	0.12283	.	0.565966	0.20610	N	0.089000	T	0.41373	0.1156	N	0.11201	0.11	0.09310	N	1	B;B	0.16603	0.018;0.01	B;B	0.14578	0.011;0.005	T	0.44221	-0.9342	10	0.17369	T	0.5	-6.5751	9.4413	0.38670	0.0:0.5057:0.0:0.4943	.	125;125	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	N	125;125;68	ENSP00000256649:S125N;ENSP00000358476:S125N;ENSP00000358473:S68N	ENSP00000256649:S125N	S	-	2	0	TRIM45	117464973	0.956000	0.32656	0.812000	0.32479	0.974000	0.67602	0.660000	0.25009	0.032000	0.15435	0.561000	0.74099	AGC			0.557	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033503.1		NM_025188		T	117663450	C	T	117663450	3	4	125	1	0	0	0	0	1	0	0	0	16544	797	28	2	1392	2	TRIM45	1	117663450	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	3447474	117663450	131587171	6	9298											
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcaaagagaaatgttttCtaactcaactggccggcttc	12	11	7	11	1	3	1	2	0	1	1	4	2	3	1	2	2	2	2	2	2	4	4	rs55936365		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		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)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V													NBPF10,NS,carcinoma,0,2	NBPF10	0	2	2	Substitution - Missense(2)	kidney(2)	c.C130G																																									SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	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.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val		51	0.0392156863	2		48	0.06	3	NM_001039703	1	0	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT			0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding		OTTHUMT00000038550.3		NM_001039703		G	145293535	C	G	145293535	3	3	125	1	0	0	0	0	1	0	0	0	10209	912	32	5	132	5	NBPF10	1	145293535	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	27630085	145293535	103957086	7	9299											
RUSC1	23623	broad.mit.edu	37	chr1	155292770	155292770	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcccgccccggcccccAcccccgcctgtccctccccg	1	6	8	26	4	0	0	0	0	0	0	3	0	3	0	11	2	0	0	11	2	0	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:155292770A>C	ENST00000368352.5	+	2	1357	c.1206A>C	c.(1204-1206)ccA>ccC	p.P402P	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000368354.3_Silent_p.P402P|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	402					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCGGCCCCCACCCCCGCCTG	0.726																																					p.P402P													.	RUSC1	85		0			c.A1206C																																									SO:0001819	synonymous_variant	23623	exon2			GCCCCCACCCCCG	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1206A>C	1.37:g.155292770A>C			39	0.358974359	14		39	0.54	21	NM_001105204	0		0	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																					0.726	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039071.1				C	155292770	A	C	155292770	2	2	125	1	0	0	0	0	0	0	0	1	13773	146	6	4		4	RUSC1	1	155292770	Silent	SNP	A	TCGA-XE-AAOL-01A-11D-A435-10	9999235	155292770	93957851	8	9300											
ASH1L	55870	broad.mit.edu	37	chr1	155340657	155340657	+	Frame_Shift_Del	DEL	T	T	-																															ttggttctgattccccaaccTttttcctcagctcgaaatcg																										TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:155340657delT	ENST00000368346.3	-	11	7104	c.6465delA	c.(6463-6465)aaafs	p.K2155fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.K2150fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2155	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)			TTCCCCAACCTTTTTCCTCAG	0.502																																					p.K2150fs													.	ASH1L	279		0			c.6450delA												163	171	168					1																	155340657		2203	4300	6503	SO:0001589	frameshift_variant	55870	exon11			CCAACCTTTTTCC	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.6465delA	1.37:g.155340657delT	ENSP00000357330:p.Lys2155fs		142	0	0		183	0.04	7	NM_018489	1	0	0	Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37																																																																																						0.502	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000039400.1		NM_018489		-	155340657	T	-	155340657	7	5	125	1	0	1	0	1	0	0	0	0	1041	1606	56	0	2516	0	ASH1L	1	155340657	Frame_Shift_Del	DEL	T	TCGA-XE-AAOL-01A-11D-A435-10	47887	155340657	93909964	9	9301											
SH2D2A	9047	mdanderson.org	37	chr1	156783685	156783685	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctccccgtaggggctgagCgggtgcgcggtgtagtgcag	4	8	19	10	4	1	1	0	1	1	0	2	1	1	1	2	4	3	4	2	4	2	2			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:156783685C>T	ENST00000368199.3	-	5	675	c.522G>A	c.(520-522)ccG>ccA	p.P174P	SH2D2A_ENST00000392306.2_Silent_p.P184P|SH2D2A_ENST00000495306.1_5'Flank|SH2D2A_ENST00000368198.3_Silent_p.P156P|NTRK1_ENST00000392302.2_5'Flank	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	174	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)					AGGGGCTGAGCGGGTGCGCGG	0.741																																					p.P184P													.	.			0			c.G552A												12	15	14					1																	156783685		2172	4224	6396	SO:0001819	synonymous_variant	9047	exon5			GCTGAGCGGGTGC	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.522G>A	1.37:g.156783685C>T			8	0	0		16	0.13	2	NM_001161441	1	0	0	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	CCDS1159.1																																																																																					0.741	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000098982.1		NM_003975		T	156783685	C	T	156783685	2	4	125	1	0	0	0	0	0	0	0	1	14255	755	27	1		1	SH2D2A	1	156783685	Silent	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	1443028	156783685	92466936	10	9302											
GUK1	2987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	228335314	228335314	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgattgccaccccctttttAggagcagcggctgcggcagc	6	9	12	14	2	0	1	0	1	0	0	0	2	0	2	3	3	5	3	3	3	1	4			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr1:228335314A>G	ENST00000366718.1	+	6	817		c.e6-1		GUK1_ENST00000391865.3_Splice_Site|GUK1_ENST00000366721.1_Splice_Site|GUK1_ENST00000366728.2_Splice_Site|GUK1_ENST00000366722.1_Intron|GUK1_ENST00000366716.1_Splice_Site|GUK1_ENST00000366726.1_Splice_Site|GUK1_ENST00000366723.1_Splice_Site|GUK1_ENST00000470040.1_Intron|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000312726.4_Splice_Site|GUK1_ENST00000366730.1_Splice_Site	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						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)				CCCCCTTTTTAGGAGCAGCGG	0.657																																					.													.	.			0			c.391-2A>G												55	60	58					1																	228335314		2203	4300	6503	SO:0001630	splice_region_variant	2987	exon6			CTTTTTAGGAGCA	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.391-1A>G	1.37:g.228335314A>G			57	0	0		96	0.36	35	NM_001242839	2	0.5	1	B1ANH1	Splice_Site	SNP	ENST00000366718.1	37	CCDS1568.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.318861	0.23994	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000366728;ENST00000453943;ENST00000366723;ENST00000435153;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716;ENST00000420445	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1397	0.31076	0.9064:0.0:0.0936:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUK1	226401937	0.998000	0.40836	0.977000	0.42913	0.240000	0.25518	4.043000	0.57354	1.927000	0.55829	0.460000	0.39030	.			0.657	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000095944.1		NM_000858	Intron	G	228335314	A	G	228335314	5	3	125	1	0	0	0	0	0	0	1	0	6915	434	15	4	474	4	GUK1	1	228335314	Splice_Site	SNP	A	TCGA-XE-AAOL-01A-11D-A435-10	71551629	228335314	20915307	11	9303											
IL1RL1	9173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	102955396	102955396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtattactcacaaacaaAcaaaagtattcccactcagg	16	10	5	10	0	2	0	2	0	0	0	3	0	3	0	1	2	3	2	1	2	7	5			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr2:102955396A>G	ENST00000233954.1	+	3	432	c.161A>G	c.(160-162)aAc>aGc	p.N54S	IL1RL1_ENST00000409584.1_Missense_Mutation_p.N54S|IL1RL1_ENST00000311734.2_Missense_Mutation_p.N54S|IL1RL1_ENST00000393393.3_Missense_Mutation_p.N54S|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000473175.1_3'UTR	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	54	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCACAAACAAACAAAAGTATT	0.413																																					p.N54S													.	.			0			c.A161G												186	187	186					2																	102955396		2203	4300	6503	SO:0001583	missense	9173	exon3			AAACAAACAAAAG	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.161A>G	2.37:g.102955396A>G	ENSP00000233954:p.Asn54Ser		143	0	0		182	0.21	38	NM_016232	0		0	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815175	0.90790	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	6.03	4.85	0.62838	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.628035	0.17214	N	0.182586	T	0.79540	0.4463	L	0.56769	1.78	0.30788	N	0.741288	D;D	0.61697	0.99;0.977	P;P	0.57152	0.779;0.814	T	0.72928	-0.4143	10	0.10636	T	0.68	.	9.3593	0.38186	0.8408:0.0:0.0:0.1592	.	54;54	Q01638-2;Q01638	.;ILRL1_HUMAN	S	54	ENSP00000233954:N54S;ENSP00000377052:N54S;ENSP00000310371:N54S;ENSP00000386618:N54S	ENSP00000233954:N54S	N	+	2	0	IL1RL1	102321828	0.404000	0.25328	0.259000	0.24435	0.727000	0.41649	2.947000	0.49058	1.061000	0.40601	0.533000	0.62120	AAC			0.413	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253296.1		NM_016232		G	102955396	A	G	102955396	3	3	125	1	0	0	0	0	1	0	0	0	7678	43	2	4	167	4	IL1RL1	2	102955396	Missense_Mutation	SNP	A	TCGA-XE-AAOL-01A-11D-A435-10		102955396	140243977	12	9304											
RFTN1	23180	mdanderson.org	37	chr3	16358655	16358655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcattttcttctgcttGttgtttgtctctggcactga	3	21	7	10	0	4	1	1	1	4	0	6	1	4	1	0	1	1	4	0	1	0	7			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr3:16358655G>T	ENST00000334133.4	-	10	1689	c.1417C>A	c.(1417-1419)Caa>Aaa	p.Q473K	OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q437K|RP11-415F23.2_ENST00000607464.1_RNA	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	473					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCTTCTGCTTGTTGTTTGTCT	0.453																																					p.Q473K													.	.			0			c.C1417A												136	129	131					3																	16358655		2203	4300	6503	SO:0001583	missense	23180	exon10			CTGCTTGTTGTTT	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1417C>A	3.37:g.16358655G>T	ENSP00000334153:p.Gln473Lys		83	0	0		48	0.08	4	NM_015150	4	0	0	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057853	0.19987	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.28255	1.62;1.62	5.25	4.32	0.51571	.	0.848509	0.10555	N	0.660933	T	0.24890	0.0604	L	0.36672	1.1	0.29289	N	0.869471	B;B	0.24721	0.11;0.11	B;B	0.17433	0.018;0.018	T	0.05178	-1.0901	10	0.19147	T	0.46	-0.247	13.0716	0.59064	0.0:0.0:0.8403:0.1597	.	437;473	G3XAJ6;Q14699	.;RFTN1_HUMAN	K	437;473	ENSP00000403926:Q437K;ENSP00000334153:Q473K	ENSP00000334153:Q473K	Q	-	1	0	RFTN1	16333659	0.002000	0.14202	0.006000	0.13384	0.012000	0.07955	1.028000	0.30128	2.606000	0.88127	0.563000	0.77884	CAA			0.453	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000346908.1		NM_015150		T	16358655	G	T	16358655	3	4	125	1	0	0	0	0	1	0	0	0	13281	1386	48	3	323	3	RFTN1	3	16358655	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		16358655	181663775	13	9305											
COL6A5	256076	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr3	130128890	130128890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caataacatcaaaggacaaaAgggctccaaaggagaacaag	21	3	9	8	0	1	1	1	0	0	1	2	3	2	2	1	3	2	1	1	3	8	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr3:130128890A>G	ENST00000432398.2	+	19	5074	c.4580A>G	c.(4579-4581)aAg>aGg	p.K1527R	COL6A5_ENST00000265379.6_Missense_Mutation_p.K1527R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1527	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAAGGACAAAAGGGCTCCAAA	0.318																																					p.K1527R													.	.			0			c.A4580G												211	205	207					3																	130128890		692	1591	2283	SO:0001583	missense	256076	exon19			GACAAAAGGGCTC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4580A>G	3.37:g.130128890A>G	ENSP00000390895:p.Lys1527Arg		106	0	0		95	0.04	4	NM_153264	0		0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	A	14.46	2.543405	0.45280	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.95588	-3.75;-2.39	5.85	3.47	0.39725	.	.	.	.	.	D	0.93324	0.7872	L	0.58810	1.83	0.22389	N	0.99914	P	0.40909	0.732	B	0.43754	0.43	D	0.86272	0.1662	9	0.44086	T	0.13	.	4.3598	0.11196	0.6983:0.0:0.157:0.1447	.	1527	A8TX70-2	.	R	1527	ENSP00000390895:K1527R;ENSP00000265379:K1527R	ENSP00000265379:K1527R	K	+	2	0	COL6A5	131611580	0.984000	0.35163	1.000000	0.80357	0.713000	0.41058	1.161000	0.31773	0.473000	0.27368	0.528000	0.53228	AAG			0.318	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_153264		G	130128890	A	G	130128890	3	3	125	1	0	0	0	0	1	0	0	0	3704	72	3	4	4650	4	COL6A5	3	130128890	Missense_Mutation	SNP	A	TCGA-XE-AAOL-01A-11D-A435-10	113770235	130128890	67893540	14	9306											
TUBB4Q	56604	bcgsc.ca	37	chr4	190904383	190904383	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgcttcgttatctatgcaGaaggtctcatctgcgttttc	7	15	9	10	3	3	1	1	0	3	1	6	1	3	1	0	1	3	4	0	1	3	5	rs76146840	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr4:190904383G>A								FRG1 (20024 upstream) : RNA5SP174 (31909 downstream)																							TATCTATGCAGAAGGTCTCAT	0.527																																					.													.	.			0			.												17	26	23					4																	190904383		1888	4036	5924	SO:0001628	intergenic_variant	56604	.			TATGCAGAAGGTC																													4.37:g.190904383G>A			86	0.0348837209	3		38	0.53	20	.	1	0	0		RNA	SNP		37																																																																																					0	0.527											A	190904383	G	A	190904383	1	1	125	0	1	0	0	0	0	0	0	0	16783	933	33	3		3	TUBB4Q	4	190904383	IGR	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		190904383	249893	15	9307											
TRPC7	57113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	135692524	135692524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgcgggcgcccttgagCagcaggatgtgcacgatctc	7	8	14	12	4	1	1	0	1	1	0	3	4	1	2	1	2	4	3	1	2	0	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:135692524C>T	ENST00000513104.1	-	2	834	c.552G>A	c.(550-552)ctG>ctA	p.L184L	TRPC7_ENST00000426057.2_Silent_p.L184L|TRPC7_ENST00000355180.3_Silent_p.L184L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	184					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)			CGCCCTTGAGCAGCAGGATGT	0.617																																					p.L184L													.	.			0			c.G552A												104	112	110					5																	135692524		2203	4295	6498	SO:0001819	synonymous_variant	57113	exon2			CTTGAGCAGCAGG	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.552G>A	5.37:g.135692524C>T			75	0	0		66	0.42	28	NM_001167576	0		0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951209	0.18431	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.26	0.128	0.14733	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26538	-1.0100	4	.	.	.	-12.9905	2.1611	0.03825	0.2882:0.3775:0.1948:0.1396	.	.	.	.	T	184	.	.	A	-	1	0	TRPC7	135720423	0.991000	0.36638	1.000000	0.80357	0.980000	0.70556	0.394000	0.20834	0.341000	0.23771	0.650000	0.86243	GCT			0.617	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366975.1		NM_020389		T	135692524	C	T	135692524	2	4	125	1	0	0	0	0	0	0	0	1	16608	697	25	2		2	TRPC7	5	135692524	Silent	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10		135692524	45222736	16	9308											
PCDHA2	56146	mdanderson.org	37	chr5	140176344	140176344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggtgcgcgcagtggacGctgactcaggctacaacgcg	9	5	15	12	6	1	1	1	1	0	0	1	3	1	2	0	3	3	3	0	3	3	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:140176344G>A	ENST00000526136.1	+	1	1795	c.1795G>A	c.(1795-1797)Gct>Act	p.A599T	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A599T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A599T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	599	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(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGGACGCTGACTCAGG	0.662																																					p.A599T													PCDHA2_ENST00000526136,NS,carcinoma,0,4	PCDHA2_ENST00000526136	0	4	0			c.G1795A												160	144	149					5																	140176344		2203	4300	6503	SO:0001583	missense	56146	exon1			GTGGACGCTGACT	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1795G>A	5.37:g.140176344G>A	ENSP00000431748:p.Ala599Thr		62	0	0		51	0.06	3	NM_031495	0		0	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	13.06	2.125332	0.37533	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.55234	0.53;0.53;0.53	3.91	1.84	0.25277	Cadherin (4);Cadherin-like (1);	0.971401	0.08362	U	0.957597	T	0.75496	0.3857	M	0.93106	3.38	0.22903	N	0.998587	D;D;D	0.71674	0.998;0.995;0.984	P;P;D	0.67231	0.897;0.819;0.95	T	0.57242	-0.7845	10	0.66056	D	0.02	.	7.7136	0.28692	0.0:0.1585:0.5161:0.3254	.	599;599;599	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	599	ENSP00000430584:A599T;ENSP00000367372:A599T;ENSP00000431748:A599T	ENSP00000367372:A599T	A	+	1	0	PCDHA2	140156528	0.018000	0.18449	0.747000	0.31113	0.131000	0.20780	0.969000	0.29370	0.733000	0.32492	0.549000	0.68633	GCT			0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372877.3		NM_018905		A	140176344	G	A	140176344	3	1	125	1	0	0	0	0	1	0	0	0	11541	1087	38	1	1797	1	PCDHA2	5	140176344	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	4483820	140176344	40738916	17	9309											
PCDHA6	56142	bcgsc.ca	37	chr5	140209479	140209479	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagttgacgccgactcAggctacaacgcgtggctttc	7	8	12	14	6	1	1	1	1	0	0	2	2	1	1	1	2	2	4	1	2	2	3	rs201316180	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:140209479A>G	ENST00000529310.1	+	1	1917	c.1803A>G	c.(1801-1803)tcA>tcG	p.S601S	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	601	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)			ACGCCGACTCAGGCTACAACG	0.662													.|||	7	0.00139776	0	0	5008	,	,		16847	0.0069		0	False		,,,				2504	0				p.S601S													.	PCDHA6	442		0			c.A1803G												85	86	86					5																	140209479		2203	4300	6503	SO:0001819	synonymous_variant	56142	exon1			CGACTCAGGCTAC	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.1803A>G	5.37:g.140209479A>G			54	0	0		52	0.08	4	NM_018909	0		0	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																					0.662	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372829.3		NM_018909		G	140209479	A	G	140209479	2	3	125	1	0	0	0	0	0	0	0	1	11545	175	7	4		4	PCDHA6	5	140209479	Silent	SNP	A	TCGA-XE-AAOL-01A-11D-A435-10	33135	140209479	40705781	18	9310											
FAM71B	153745	mdanderson.org	37	chr5	156590354	156590354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcgctgtggtcacttGacctgggcctgcagatttgg	5	10	14	12	2	1	2	1	1	0	1	1	2	1	2	3	3	2	2	3	3	0	2			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:156590354G>T	ENST00000302938.4	-	2	1017	c.922C>A	c.(922-924)Caa>Aaa	p.Q308K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	308	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTCACTTGACCTGGGCCT	0.517																																					p.Q308K													.	.			0			c.C922A												118	114	115					5																	156590354		2203	4300	6503	SO:0001583	missense	153745	exon2			TCACTTGACCTGG		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.922C>A	5.37:g.156590354G>T	ENSP00000305596:p.Gln308Lys		42	0	0		42	0.07	3	NM_130899	0		0	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363491	0.41902	.	.	ENSG00000170613	ENST00000302938	T	0.04049	3.72	3.85	2.96	0.34315	.	0.365738	0.20136	N	0.098493	T	0.10165	0.0249	L	0.60455	1.87	0.09310	N	1	D	0.62365	0.991	P	0.52481	0.7	T	0.07539	-1.0767	10	0.49607	T	0.09	-9.8624	9.482	0.38906	0.0:0.216:0.784:0.0	.	308	Q8TC56	FA71B_HUMAN	K	308	ENSP00000305596:Q308K	ENSP00000305596:Q308K	Q	-	1	0	FAM71B	156522932	0.133000	0.22466	0.016000	0.15963	0.002000	0.02628	3.753000	0.55180	1.164000	0.42652	-0.175000	0.13238	CAA			0.517	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252570.2		NM_130899		T	156590354	G	T	156590354	3	4	125	1	0	0	0	0	1	0	0	0	5621	1299	45	3	899	3	FAM71B	5	156590354	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	16380875	156590354	24324906	19	9311											
BOD1	91272	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	173043252	173043252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggaagctgtcaaaaaggCcccggctcttgagctgctcc	8	7	13	13	2	2	1	1	1	1	0	3	2	3	2	3	4	3	4	3	4	3	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr5:173043252C>T	ENST00000311086.4	-	1	411	c.188G>A	c.(187-189)gGc>gAc	p.G63D	BOD1_ENST00000285908.5_Missense_Mutation_p.G63D|BOD1_ENST00000480951.1_Missense_Mutation_p.G63D|BOD1_ENST00000471339.1_5'UTR	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	63					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GTCAAAAAGGCCCCGGCTCTT	0.721																																					p.G63D													.	.			0			c.G188A												4	6	5					5																	173043252		2075	4163	6238	SO:0001583	missense	91272	exon1			AAAAGGCCCCGGC	AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"biorientation defective 1"		"family with sequence similarity 44, member B"	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.188G>A	5.37:g.173043252C>T	ENSP00000309644:p.Gly63Asp		28	0	0		25	0.4	10	NM_001159651	3	1	3	B4DXH8|Q9BTW1	Missense_Mutation	SNP	ENST00000311086.4	37	CCDS4389.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136648	0.94517	.	.	ENSG00000145919	ENST00000311086;ENST00000285908;ENST00000477985;ENST00000480951	T;T	0.25912	1.77;1.77	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60964	-0.7158	10	0.87932	D	0	-11.7075	16.2406	0.82405	0.0:1.0:0.0:0.0	.	63;63	Q96IK1-2;Q96IK1	.;BOD1_HUMAN	D	63;63;37;63	ENSP00000309644:G63D;ENSP00000285908:G63D	ENSP00000285908:G63D	G	-	2	0	BOD1	172975858	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.010000	0.76353	2.143000	0.66587	0.563000	0.77884	GGC			0.721	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252963.1		NM_138369		T	173043252	C	T	173043252	3	4	125	1	0	0	0	0	1	0	0	0	1482	739	26	2	413	2	BOD1	5	173043252	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	16452898	173043252	7872008	20	9312											
RNF182	221687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	13977913	13977913	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgggtgttagtgtggtTgctaggtttgctctacttca	5	16	12	8	1	2	0	1	0	1	0	3	0	3	0	1	3	3	5	1	3	3	6			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr6:13977913T>G	ENST00000488300.1	+	3	1086	c.563T>G	c.(562-564)tTg>tGg	p.L188W	RNF182_ENST00000537388.1_Missense_Mutation_p.L188W|RNF182_ENST00000537663.1_Missense_Mutation_p.L188W|RNF182_ENST00000544682.1_Missense_Mutation_p.L188W	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	188					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TTAGTGTGGTTGCTAGGTTTG	0.517																																					p.L188W													.	.			0			c.T563G												213	216	215					6																	13977913		2203	4300	6503	SO:0001583	missense	221687	exon4			TGTGGTTGCTAGG	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"RING-type (C3HC4) zinc fingers"	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.563T>G	6.37:g.13977913T>G	ENSP00000420465:p.Leu188Trp		115	0	0		86	0.21	18	NM_001165032	0		0	B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490584	0.84962	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000537388	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.27	5.27	0.74061	.	0.510310	0.20234	N	0.096434	T	0.27798	0.0684	L	0.46157	1.445	0.54753	D	0.999984	D	0.76494	0.999	D	0.68192	0.956	T	0.01436	-1.1355	9	.	.	.	-15.6193	15.2097	0.73209	0.0:0.0:0.0:1.0	.	188	Q8N6D2	RN182_HUMAN	W	188	ENSP00000443228:L188W;ENSP00000420465:L188W;ENSP00000442021:L188W;ENSP00000441271:L188W	.	L	+	2	0	RNF182	14085892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	1.998000	0.58463	0.460000	0.39030	TTG			0.517	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039911.2		NM_152737		G	13977913	T	G	13977913	3	3	125	1	0	0	0	0	1	0	0	0	13489	1821	63	4	565	4	RNF182	6	13977913	Missense_Mutation	SNP	T	TCGA-XE-AAOL-01A-11D-A435-10		13977913	157137154	21	9313											
TMEM184A	202915	mdanderson.org	37	chr7	1586673	1586673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccgccgctggggtgggtgCcgggcctgggcgcctcgtgc	1	6	20	14	5	0	0	0	0	0	0	1	0	0	0	5	5	3	1	5	5	0	0			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr7:1586673C>T	ENST00000297477.5	-	9	1473	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	386					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGGGTGGGTGCCGGGCCTGGG	0.706																																					p.G386D													.	.			0			c.G1157A												19	25	23					7																	1586673		2187	4291	6478	SO:0001583	missense	202915	exon9			TGGGTGCCGGGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1157G>A	7.37:g.1586673C>T	ENSP00000297477:p.Gly386Asp		16	0	0		43	0.07	3	NM_001097620	0		0	Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	8.227	0.803868	0.16467	.	.	ENSG00000164855	ENST00000297477	T	0.32515	1.45	5.18	2.35	0.29111	.	5.011570	0.00871	U	0.002020	T	0.31136	0.0787	L	0.57536	1.79	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.18999	-1.0319	10	0.18276	T	0.48	-12.6884	6.5175	0.22256	0.0:0.6559:0.1338:0.2103	.	386	Q6ZMB5	T184A_HUMAN	D	386	ENSP00000297477:G386D	ENSP00000297477:G386D	G	-	2	0	TMEM184A	1553199	0.000000	0.05858	0.057000	0.19452	0.297000	0.27493	0.067000	0.14510	1.168000	0.42723	0.549000	0.68633	GGC			0.706	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239229.4		NM_152689		T	1586673	C	T	1586673	3	4	125	1	0	0	0	0	1	0	0	0	16127	739	26	2	88	2	TMEM184A	7	1586673	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10		1586673	157551990	22	9314											
FOXP2	93986	mdanderson.org	37	chr7	114304486	114304486	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctgctcacctcagccGcacatgtaagtgtggttaac	8	9	11	13	2	2	0	2	0	0	0	2	0	2	0	3	2	3	5	3	2	2	2	rs547912850	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr7:114304486G>T	ENST00000393494.2	+	16	2277	c.1998G>T	c.(1996-1998)ccG>ccT	p.P666P	FOXP2_ENST00000393489.3_Silent_p.P574P|FOXP2_ENST00000403559.4_Silent_p.P683P|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Silent_p.P645P|FOXP2_ENST00000350908.4_Silent_p.P666P|FOXP2_ENST00000408937.3_Silent_p.P691P|FOXP2_ENST00000393491.3_Silent_p.P481P			O15409	FOXP2_HUMAN	forkhead box P2	666					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CACCTCAGCCGCACATGTAAG	0.428																																					p.P691P													.	.			0			c.G2073T												57	56	57					7																	114304486		2203	4300	6503	SO:0001819	synonymous_variant	93986	exon17			TCAGCCGCACATG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1998G>T	7.37:g.114304486G>T			54	0	0		52	0.06	3	NM_148898	0		0	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	CCDS5760.1																																																																																					0.428	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317366.1		NM_014491		T	114304486	G	T	114304486	2	4	125	1	0	0	0	0	0	0	0	1	6040	1074	38	1		1	FOXP2	7	114304486	Silent	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	112717813	114304486	44834177	23	9315											
NPR2	4882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	35792698	35792698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaccccgacctgctgttagGtcccggttgcgtgtaccctg	4	11	12	14	3	0	1	0	1	0	0	1	2	1	1	5	2	3	4	5	2	2	3			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr9:35792698G>A	ENST00000342694.2	+	1	548	c.293G>A	c.(292-294)gGt>gAt	p.G98D		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	98					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGCTGTTAGGTCCCGGTTGC	0.637																																					p.G98D													.	.			0			c.G293A												120	108	112					9																	35792698		2203	4300	6503	SO:0001583	missense	4882	exon1			TGTTAGGTCCCGG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.293G>A	9.37:g.35792698G>A	ENSP00000341083:p.Gly98Asp		70	0	0		53	0.32	17	NM_003995	0		0	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835449	0.71373	.	.	ENSG00000159899	ENST00000342694	D	0.95821	-3.82	3.93	3.93	0.45458	Extracellular ligand-binding receptor (1);	0.000000	0.45126	D	0.000400	D	0.97673	0.9237	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98239	1.0487	10	0.87932	D	0	.	13.6299	0.62189	0.0:0.0:1.0:0.0	.	98;98	P20594-2;P20594	.;ANPRB_HUMAN	D	98	ENSP00000341083:G98D	ENSP00000341083:G98D	G	+	2	0	NPR2	35782698	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.336000	0.96533	2.183000	0.69458	0.563000	0.77884	GGT			0.637	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052345.1				A	35792698	G	A	35792698	3	1	125	1	0	0	0	0	1	0	0	0	10612	1261	44	3	295	3	NPR2	9	35792698	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		35792698	105420733	24	9316											
NOL8	55035	mdanderson.org	37	chr9	95077301	95077301	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggacgaatacactgtcGgcctctgcggaggccagtgg	8	6	15	12	4	1	0	0	0	1	0	2	3	1	2	2	5	2	1	2	5	2	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr9:95077301G>A	ENST00000535387.1	-	6	1605	c.1606C>T	c.(1606-1608)Cga>Tga	p.R536*	NOL8_ENST00000542053.1_Nonsense_Mutation_p.R468*|NOL8_ENST00000358855.4_Nonsense_Mutation_p.R468*|NOL8_ENST00000442668.2_Nonsense_Mutation_p.R536*|NOL8_ENST00000545558.1_Nonsense_Mutation_p.R536*					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACACTGTCGGCCTCTGCGG	0.493																																					p.R536X													.	.			0			c.C1606T												73	70	71					9																	95077301		1842	4088	5930	SO:0001587	stop_gained	55035	exon7			ACTGTCGGCCTCT	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1606C>T	9.37:g.95077301G>A	ENSP00000441300:p.Arg536*		59	0	0		44	0.07	3	NM_017948	7	0	0		Nonsense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	G	36	5.600356	0.96614	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	.	.	.	5.69	-0.908	0.10517	.	1.693040	0.03368	N	0.198519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2141	11.0487	0.47874	0.0:0.1472:0.3639:0.4889	.	.	.	.	X	536;538;468;536;536;468;536	.	ENSP00000351723:R468X	R	-	1	2	NOL8	94117122	0.009000	0.17119	0.000000	0.03702	0.023000	0.10783	0.808000	0.27154	-0.033000	0.13736	0.655000	0.94253	CGA			0.493	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000053082.2		NM_017948		A	95077301	G	A	95077301	4	1	125	1	0	0	0	0	0	1	0	0	10544	1124	39	1	1941	1	NOL8	9	95077301	Nonsense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	59284603	95077301	46136130	25	9317											
STAM	8027	mdanderson.org	37	chr10	17747006	17747006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacctctcattgatgaaaaGctggaagatattgataggta	14	11	11	5	0	1	4	1	3	1	1	2	6	1	6	1	3	1	2	1	3	6	5			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr10:17747006G>T	ENST00000377524.3	+	11	1253	c.1038G>T	c.(1036-1038)aaG>aaT	p.K346N	STAM_ENST00000540523.1_Missense_Mutation_p.K235N	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	346					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGATGAAAAGCTGGAAGATA	0.363																																					p.K346N													.	.			0			c.G1038T												149	141	144					10																	17747006		2203	4300	6503	SO:0001583	missense	8027	exon11			TGAAAAGCTGGAA	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1038G>T	10.37:g.17747006G>T	ENSP00000366746:p.Lys346Asn		48	0	0		70	0.06	4	NM_003473	1	0	0	B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129027	0.77549	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.41758	1.31;0.99	5.82	4.73	0.59995	.	0.044519	0.85682	D	0.000000	T	0.57242	0.2040	M	0.78456	2.415	0.58432	D	0.999998	D	0.76494	0.999	D	0.78314	0.991	T	0.54951	-0.8216	10	0.18276	T	0.48	-17.41	6.7421	0.23441	0.2447:0.0:0.7553:0.0	.	346	Q92783	STAM1_HUMAN	N	346;235	ENSP00000366746:K346N;ENSP00000438073:K235N	ENSP00000366746:K346N	K	+	3	2	STAM	17787012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.637000	0.24659	2.751000	0.94390	0.650000	0.86243	AAG			0.363	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047039.1		NM_003473		T	17747006	G	T	17747006	3	4	125	1	0	0	0	0	1	0	0	0	15271	962	34	2	1080	2	STAM	10	17747006	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		17747006	117787741	26	9318											
KIAA1217	56243	broad.mit.edu	37	chr10	24669920	24669920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggggatgctccaaccccTttttccagaggcagccggac	8	7	13	13	1	0	1	0	0	0	1	2	4	2	3	5	4	3	2	5	4	1	2			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	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_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000458595.1_Silent_p.P159P	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																																					p.P159P													KIAA1217,NS,carcinoma,+1,1	KIAA1217	235	1	0			c.T477C												62	63	63					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243	exon3			AACCCCTTTTTCC	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			70	0.0142857143	1		108	0.04	4	NM_019590	0		0	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																					0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000047223.2		NM_019590		C	24669920	T	C	24669920	2	2	125	1	0	0	0	0	0	0	0	1	8231	1596	56	4		4	KIAA1217	10	24669920	Silent	SNP	T	TCGA-XE-AAOL-01A-11D-A435-10	6922914	24669920	110864827	27	9319											
FZD8	8325	mdanderson.org	37	chr10	35930317	35930317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcagcagcgccaaggcgGccagcagcgaggtcacttcc	8	4	14	15	3	1	0	1	0	0	0	2	1	2	0	3	3	5	4	3	3	1	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr10:35930317G>T	ENST00000374694.1	-	1	45	c.41C>A	c.(40-42)gCc>gAc	p.A14D	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	14					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						CGCCAAGGCGGCCAGCAGCGA	0.716																																					p.A14D													.	.			0			c.C41A												41	39	40					10																	35930317		2201	4297	6498	SO:0001583	missense	8325	exon1			AAGGCGGCCAGCA	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.41C>A	10.37:g.35930317G>T	ENSP00000363826:p.Ala14Asp		25	0	0		34	0.09	3	NM_031866	0		0		Missense_Mutation	SNP	ENST00000374694.1	37	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282937	0.40394	.	.	ENSG00000177283	ENST00000374694	T	0.81415	-1.49	4.22	4.22	0.49857	.	0.868705	0.09796	U	0.754681	T	0.73118	0.3546	N	0.08118	0	0.32379	N	0.554794	D	0.55385	0.971	P	0.49012	0.598	T	0.74575	-0.3620	10	0.36615	T	0.2	.	16.1944	0.82018	0.0:0.0:1.0:0.0	.	14	Q9H461	FZD8_HUMAN	D	14	ENSP00000363826:A14D	ENSP00000363826:A14D	A	-	2	0	FZD8	35970323	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.220000	0.58567	1.915000	0.55452	0.462000	0.41574	GCC			0.716	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047575.2		NM_031866		T	35930317	G	T	35930317	3	4	125	1	0	0	0	0	1	0	0	0	6149	1203	42	2	2047	2	FZD8	10	35930317	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	11260397	35930317	99604430	28	9320											
TUB	7275	mdanderson.org	37	chr11	8122144	8122144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagtctctatccgcccccGcaacgtgagtgtctacccct	7	9	9	16	3	2	2	0	1	2	1	4	3	3	2	5	0	2	1	5	0	3	2	rs144050808	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:8122144G>T	ENST00000299506.2	+	10	1360	c.1211G>T	c.(1210-1212)cGc>cTc	p.R404L	TUB_ENST00000534099.1_Missense_Mutation_p.R410L|TUB_ENST00000305253.4_Missense_Mutation_p.R459L	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	404					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.R459H(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ATCCGCCCCCGCAACGTGAGT	0.542																																					p.R459L													TUB,NS,carcinoma,0,1	TUB	0	1	1	Substitution - Missense(1)	stomach(1)	c.G1376T												137	108	118					11																	8122144		2201	4296	6497	SO:0001583	missense	7275	exon11			GCCCCCGCAACGT	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1211G>T	11.37:g.8122144G>T	ENSP00000299506:p.Arg404Leu		63	0	0		38	0.08	3	NM_003320	0		0	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270493	0.59540	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.84660	-1.88;-1.88;-1.88	4.59	3.68	0.42216	Tubby, C-terminal (3);	0.055535	0.64402	D	0.000001	T	0.80717	0.4676	L	0.42632	1.34	0.80722	D	1	B;B;B	0.25048	0.027;0.076;0.117	B;B;B	0.32211	0.027;0.133;0.142	T	0.74919	-0.3500	10	0.28530	T	0.3	-18.1139	12.8718	0.57968	0.0807:0.0:0.9193:0.0	.	410;404;459	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	L	410;459;404	ENSP00000434400:R410L;ENSP00000305426:R459L;ENSP00000299506:R404L	ENSP00000299506:R404L	R	+	2	0	TUB	8078720	1.000000	0.71417	0.996000	0.52242	0.751000	0.42716	5.734000	0.68580	1.074000	0.40909	-0.253000	0.11424	CGC			0.542	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385823.1		NM_003320		T	8122144	G	T	8122144	3	4	125	1	0	0	0	0	1	0	0	0	16766	1087	38	1	1460	1	TUB	11	8122144	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		8122144	126884372	29	9321											
NAALADL1	10004	mdanderson.org	37	chr11	64820723	64820723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccaggacacgggagaGctccaggaggacggcggtgc	8	3	18	12	3	0	1	0	0	0	1	2	5	2	4	3	7	2	1	3	7	0	0			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:64820723G>T	ENST00000358658.3	-	8	1192	c.1165C>A	c.(1165-1167)Ctc>Atc	p.L389I	NAALADL1_ENST00000355721.3_Missense_Mutation_p.L348I|NAALADL1_ENST00000355369.2_Missense_Mutation_p.L389I|NAALADL1_ENST00000339885.2_Missense_Mutation_p.L389I|NAALADL1_ENST00000356632.3_Missense_Mutation_p.L354I|NAALADL1_ENST00000340252.4_Missense_Mutation_p.L440I	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	389	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ACACGGGAGAGCTCCAGGAGG	0.677																																					p.L389I													.	.			0			c.C1165A												17	15	15					11																	64820723		2154	4232	6386	SO:0001583	missense	10004	exon8			GGGAGAGCTCCAG	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1165C>A	11.37:g.64820723G>T	ENSP00000351484:p.Leu389Ile		88	0	0		33	0.09	3	NM_005468	0		0	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	3.136	-0.177448	0.06380	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	4.27	-3.28	0.05033	Peptidase M28 (1);	0.825179	0.10645	N	0.650517	T	0.19087	0.0458	N	0.05554	-0.025	0.28957	N	0.890066	B	0.10296	0.003	B	0.17979	0.02	T	0.39418	-0.9615	10	0.02654	T	1	-4.9291	7.3126	0.26483	0.0:0.3205:0.1884:0.491	.	389	Q9UQQ1	NALDL_HUMAN	I	389;389;389;389;440;348;354	ENSP00000351484:L389I;ENSP00000347530:L389I;ENSP00000340111:L389I;ENSP00000344244:L440I;ENSP00000347955:L348I;ENSP00000349045:L354I	ENSP00000340111:L389I	L	-	1	0	NAALADL1	64577299	0.562000	0.26586	0.956000	0.39512	0.883000	0.51084	-0.495000	0.06443	-0.354000	0.08212	0.655000	0.94253	CTC			0.677	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385162.1		NM_005468		T	64820723	G	T	64820723	3	4	125	1	0	0	0	0	1	0	0	0	10145	971	34	2	1101	2	NAALADL1	11	64820723	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	56698579	64820723	70185793	30	9322											
SIPA1	6494	mdanderson.org	37	chr11	65413325	65413325	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctaacttcctggccacagCggattccacaggcacgcact	9	7	8	17	2	0	0	0	0	0	0	2	1	2	1	4	3	2	2	4	3	1	3			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:65413325C>T	ENST00000394224.3	+	6	1456	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M	SIPA1_ENST00000534313.1_Splice_Site_p.T387M|SIPA1_ENST00000527525.1_Splice_Site_p.T387M|SIPA1_ENST00000394227.3_Splice_Site_p.T387M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	387	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTGGCCACAGCGGATTCCACA	0.542																																					p.T387M													.	.			0			c.C1160T												149	111	124					11																	65413325		2201	4297	6498	SO:0001630	splice_region_variant	6494	exon6			CCACAGCGGATTC	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1160-1C>T	11.37:g.65413325C>T			78	0	0		41	0.07	3	NM_006747	0		0	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227818	0.79576	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	4.31	4.31	0.51392	Rap/ran-GAP (2);	0.114392	0.32147	U	0.006516	D	0.96497	0.8857	M	0.80508	2.5	0.53688	D	0.999973	D;D	0.71674	0.989;0.998	P;P	0.60345	0.674;0.873	D	0.96931	0.9681	10	0.66056	D	0.02	.	14.646	0.68762	0.0:1.0:0.0:0.0	.	387;387	F6RY50;Q96FS4	.;SIPA1_HUMAN	M	387	ENSP00000436269:T387M;ENSP00000433686:T387M;ENSP00000377771:T387M;ENSP00000377774:T387M	ENSP00000377771:T387M	T	+	2	0	SIPA1	65169901	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.849000	0.69465	2.119000	0.64992	0.462000	0.41574	ACG			0.542	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390356.1		NM_006747	Missense_Mutation	T	65413325	C	T	65413325	5	4	125	1	0	0	0	0	0	0	1	0	14351	782	27	1	1178	1	SIPA1	11	65413325	Splice_Site	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	592602	65413325	69593191	31	9323											
CTSW	1521	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65648922	65648922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcccacaacctggcccagGctcagaggctgcaggaggag	9	5	14	13	0	1	1	1	0	0	1	1	3	1	3	3	5	3	3	3	5	1	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:65648922G>T	ENST00000307886.3	+	3	263	c.217G>T	c.(217-219)Gct>Tct	p.A73S	CTSW_ENST00000528419.1_Missense_Mutation_p.A73S	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	73					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)		CCTGGCCCAGGCTCAGAGGCT	0.577																																					p.A73S													.	CTSW	18		0			c.G217T												258	242	247					11																	65648922		2201	4296	6497	SO:0001583	missense	1521	exon3			GCCCAGGCTCAGA	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.217G>T	11.37:g.65648922G>T	ENSP00000311300:p.Ala73Ser		113	0	0		54	0.09	5	NM_001335	1	0	0	Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673783	0.67928	.	.	ENSG00000172543	ENST00000307886;ENST00000528419;ENST00000526034	D;D;D	0.85955	-2.05;-2.05;-2.05	5.85	5.85	0.93711	Proteinase inhibitor I29, cathepsin propeptide (2);	0.000000	0.64402	D	0.000002	D	0.93145	0.7817	M	0.89478	3.035	0.44000	D	0.996707	P;D	0.64830	0.786;0.994	P;D	0.69307	0.833;0.963	D	0.93805	0.7104	10	0.72032	D	0.01	.	15.6617	0.77193	0.0:0.0:1.0:0.0	.	73;73	P56202;E9PI30	CATW_HUMAN;.	S	73;73;72	ENSP00000311300:A73S;ENSP00000436568:A73S;ENSP00000434267:A72S	ENSP00000311300:A73S	A	+	1	0	CTSW	65405498	1.000000	0.71417	0.918000	0.36340	0.275000	0.26752	5.786000	0.69006	2.772000	0.95346	0.655000	0.94253	GCT			0.577	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391042.1		NM_001335		T	65648922	G	T	65648922	3	4	125	1	0	0	0	0	1	0	0	0	4044	1203	42	2	227	2	CTSW	11	65648922	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	235597	65648922	69357594	32	9324											
NAALAD2	10003	mdanderson.org	37	chr11	89924798	89924798	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaatctatgatgctatCtttgatattgaaaataaagc	14	14	7	6	0	2	3	0	3	2	0	2	4	2	4	1	1	2	1	1	1	8	6			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr11:89924798C>A	ENST00000534061.1	+	19	2336	c.2106C>A	c.(2104-2106)atC>atA	p.I702I	NAALAD2_ENST00000321955.4_Silent_p.I669I|NAALAD2_ENST00000375944.3_Missense_Mutation_p.S290Y	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	702					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATGATGCTATCTTTGATATTG	0.368																																					p.I702I													.	.			0			c.C2106A												97	97	97					11																	89924798		2201	4298	6499	SO:0001819	synonymous_variant	10003	exon19			TGCTATCTTTGAT	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.2106C>A	11.37:g.89924798C>A			40	0	0		22	0.09	2	NM_005467	3	0	0	B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129874	0.37630	.	.	ENSG00000077616	ENST00000375944	T	0.13538	2.58	5.26	2.13	0.27403	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.28507	N	0.913715	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	7	.	.	.	-4.8018	10.628	0.45519	0.0698:0.2569:0.6732:0.0	.	290	Q4KKV4	.	Y	290	ENSP00000365111:S290Y	.	S	+	2	0	NAALAD2	89564446	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.657000	0.46724	0.717000	0.32145	-0.531000	0.04308	TCT			0.368	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389424.2		NM_005467		A	89924798	C	A	89924798	2	1	125	1	0	0	0	0	0	0	0	1	10144	903	32	3		3	NAALAD2	11	89924798	Silent	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	24275876	89924798	45081718	33	9325											
CHD4	1108	hgsc.bcm.edu	37	chr12	6711150	6711150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatcatcatcatcctcCtcctcctcctcctccttccg	6	13	2	20	1	4	0	4	0	0	0	12	1	12	0	8	0	0	0	8	0	1	1	rs150832622	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr12:6711150C>A	ENST00000357008.2	-	4	577	c.414G>T	c.(412-414)gaG>gaT	p.E138D	CHD4_ENST00000544040.1_Missense_Mutation_p.E131D|CHD4_ENST00000544484.1_Missense_Mutation_p.E135D|CHD4_ENST00000309577.6_Missense_Mutation_p.E138D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	138	Poly-Glu.				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						CATCAtcctcctcctcctcct	0.458													.|||	6	0.00119808	0.0023	0.0043	5008	,	,		21622	0		0	False		,,,				2504	0				p.E138D	Colon(32;586 792 4568 16848 45314)												.	.			0			c.G414T												36	38	37					12																	6711150		2188	4279	6467	SO:0001583	missense	1108	exon4			ATCCTCCTCCTCC	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.414G>T	12.37:g.6711150C>A	ENSP00000349508:p.Glu138Asp		30	0	0		94	0.04	4	NM_001273	4	0	0	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	4	0.0018315018315018315	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	0	0.0	C	1.250	-0.618946	0.03663	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90324	-2.64;-2.65;-2.65;-2.65;0.9	5.64	0.387	0.16259	.	0.062426	0.64402	D	0.000007	T	0.65903	0.2736	N	0.03983	-0.305	0.41034	D	0.985179	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.52668	-0.8545	10	0.19590	T	0.45	.	5.795	0.18381	0.0:0.5151:0.1262:0.3587	.	138;138;131	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	D	135;131;138;138;112;138	ENSP00000440392:E135D;ENSP00000440542:E131D;ENSP00000312419:E138D;ENSP00000349508:E138D;ENSP00000437506:E138D	ENSP00000312419:E138D	E	-	3	2	CHD4	6581411	0.727000	0.28069	0.982000	0.44146	0.111000	0.19643	-0.175000	0.09825	0.062000	0.16340	-0.237000	0.12165	GAG	0.002		0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001273		A	6711150	C	A	6711150	3	1	125	1	0	0	0	0	1	0	0	0	3329	680	24	3	5472	3	CHD4	12	6711150	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10		6711150	127140745	34	9326											
KRT6B	3854	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	52841624	52841624	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacatccagggccagcttGacgttcatcagctcctggta	8	10	9	14	1	2	1	2	1	0	0	5	1	5	1	4	2	2	4	4	2	1	3			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr12:52841624G>A	ENST00000252252.3	-	7	1409	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	454	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGGCCAGCTTGACGTTCATCA	0.607																																					p.V454V													.	KRT6B	90		0			c.C1362T												140	125	130					12																	52841624		2203	4300	6503	SO:0001819	synonymous_variant	3854	exon7			CAGCTTGACGTTC	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1362C>T	12.37:g.52841624G>A			112	0.0089285714	1		217	0.12	27	NM_005555	0		0	P48669	Silent	SNP	ENST00000252252.3	37	CCDS8828.1																																																																																					0.607	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404969.1		NM_005555		A	52841624	G	A	52841624	2	1	125	1	0	0	0	0	0	0	0	1	8496	1277	45	3		3	KRT6B	12	52841624	Silent	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	46130474	52841624	81010271	35	9327											
SFRS8	6433	mdanderson.org	37	chr12	132195838	132195838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcgaaggaggaggccGggccaggcggtgccggcggt	5	2	23	11	7	0	0	0	0	0	0	0	3	0	2	3	9	1	0	3	9	1	0			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr12:132195838G>T	ENST00000261674.4	+	1	205	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	SFSWAP_ENST00000541286.1_Missense_Mutation_p.G22W	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	22					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGAGGAGGCCGGGCCAGGCGG	0.701																																					p.G22W													.	.			0			c.G64T												21	31	27					12																	132195838		2200	4296	6496	SO:0001583	missense	6433	exon1			GAGGCCGGGCCAG	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.64G>T	12.37:g.132195838G>T	ENSP00000261674:p.Gly22Trp		31	0	0		33	0.09	3	NM_001261411	3	0	0	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017006	0.75161	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.11169	2.8;2.81	4.45	4.45	0.53987	.	0.203850	0.42172	D	0.000759	T	0.17365	0.0417	N	0.24115	0.695	0.39992	D	0.975053	D;D	0.76494	0.999;0.994	D;P	0.67231	0.95;0.847	T	0.01982	-1.1235	10	0.87932	D	0	-19.7156	10.7662	0.46295	0.0895:0.0:0.9105:0.0	.	22;22	F5H6B8;Q12872	.;SFSWA_HUMAN	W	22	ENSP00000261674:G22W;ENSP00000437738:G22W	ENSP00000261674:G22W	G	+	1	0	SFSWAP	130761791	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.570000	0.60872	2.196000	0.70406	0.561000	0.74099	GGG			0.701	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399276.1		NM_004592		T	132195838	G	T	132195838	3	4	125	1	0	0	0	0	1	0	0	0	14206	1116	39	1	66	1	SFRS8	12	132195838	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	79354214	132195838	1656057	36	9328											
CLN5	1203	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	77574850	77574851	+	Frame_Shift_Ins	INS	-	-	T																															tctgggaaatgaaacatctgINStttttgggccaacaggaaac																										TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr13:77574850_77574851insT	ENST00000377453.3	+	4	2262_2263	c.970_971insT	c.(970-972)gttfs	p.V324fs	FBXL3_ENST00000477982.1_5'Flank	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	275					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TGAAACATCTGTTTTTGGGCCA	0.366																																					p.V324fs													.	CLN5	32		0			c.970_971insT																																									SO:0001589	frameshift_variant	1203	exon4			ACATCTGTTTTTG		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.975dupT	13.37:g.77574855_77574855dupT	ENSP00000366673:p.Val324fs		119	0	0		84	0.27	23	NM_006493	6	0	0	B3KQK7	Frame_Shift_Ins	INS	ENST00000377453.3	37	CCDS9456.1																																																																																					0.366	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045318.1		NM_006493		T	77574851	-	T	77574850	7	5	125	1	0	1	1	0	0	0	0	0	3546	1377	48	0	984	0	CLN5	13	77574850	Frame_Shift_Ins	INS	-	TCGA-XE-AAOL-01A-11D-A435-10		77574850	37595028	37	9329											
CTSG	1511	mdanderson.org	37	chr14	25045411	25045411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggagaaaggccagcaGaagcaggagtggctgcatct	12	5	17	7	0	1	2	0	0	1	2	1	4	1	3	1	5	3	5	1	5	3	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr14:25045411G>T	ENST00000216336.2	-	1	55	c.19C>A	c.(19-21)Ctg>Atg	p.L7M		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	7					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AAGGCCAGCAGAAGCAGGAGT	0.567																																					p.L7M													.	.			0			c.C19A												62	53	56					14																	25045411		2203	4300	6503	SO:0001583	missense	1511	exon1			CCAGCAGAAGCAG	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.19C>A	14.37:g.25045411G>T	ENSP00000216336:p.Leu7Met		46	0	0		43	0.07	3	NM_001911	0		0	Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756612	0.49362	.	.	ENSG00000100448	ENST00000216336	D	0.94138	-3.36	5.29	3.43	0.39272	.	0.285942	0.18944	N	0.126867	D	0.95188	0.8440	M	0.68593	2.085	0.20196	N	0.99992	D	0.89917	1.0	D	0.85130	0.997	D	0.88060	0.2793	10	0.56958	D	0.05	.	8.539	0.33382	0.1886:0.0:0.8114:0.0	.	7	P08311	CATG_HUMAN	M	7	ENSP00000216336:L7M	ENSP00000216336:L7M	L	-	1	2	CTSG	24115251	0.034000	0.19679	0.684000	0.30055	0.054000	0.15201	0.618000	0.24373	1.374000	0.46228	0.655000	0.94253	CTG			0.567	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276536.2		NM_001911		T	25045411	G	T	25045411	3	4	125	1	0	0	0	0	1	0	0	0	4037	933	33	3	768	3	CTSG	14	25045411	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		25045411	82304129	38	9330											
RYR3	6263	mdanderson.org	37	chr15	33926901	33926901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcacttttgttggttacGggtataacattgagccatca	9	14	10	8	2	1	1	1	1	0	0	1	1	1	1	1	2	4	4	1	2	3	7			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr15:33926901G>T	ENST00000389232.4	+	25	3212	c.3142G>T	c.(3142-3144)Ggg>Tgg	p.G1048W	RYR3_ENST00000415757.3_Missense_Mutation_p.G1048W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1048	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		TGTTGGTTACGGGTATAACAT	0.478																																					p.G1048W													RYR3,extremity,malignant_melanoma,-1,1	RYR3	-1	1	0			c.G3142T												157	152	154					15																	33926901		1914	4138	6052	SO:0001583	missense	6263	exon25			GGTTACGGGTATA		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.3142G>T	15.37:g.33926901G>T	ENSP00000373884:p.Gly1048Trp		65	0	0		49	0.06	3	NM_001243996	0		0	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794586	0.90453	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.94687	-3.49;-3.49	5.2	5.2	0.72013	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98792	1.0736	10	0.87932	D	0	.	19.2916	0.94102	0.0:0.0:1.0:0.0	.	1048;1048	Q15413-2;Q15413	.;RYR3_HUMAN	W	1048	ENSP00000373884:G1048W;ENSP00000399610:G1048W	ENSP00000354735:G1048W	G	+	1	0	RYR3	31714193	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.483000	0.97937	2.861000	0.98227	0.655000	0.94253	GGG			0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000417514.1				T	33926901	G	T	33926901	3	4	125	1	0	0	0	0	1	0	0	0	13793	1116	39	1	3240	1	RYR3	15	33926901	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		33926901	68604491	39	9331											
FES	2242	ucsc.edu	37	chr15	91435302	91435302	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggacaagtgggtgctGaaccatgaggacctggtgtt	9	8	14	10	0	0	2	0	2	0	0	0	4	0	4	4	4	2	2	4	4	2	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr15:91435302G>T	ENST00000328850.3	+	13	1810	c.1668G>T	c.(1666-1668)ctG>ctT	p.L556L	FES_ENST00000444422.2_Silent_p.L486L|FES_ENST00000414248.2_Silent_p.L428L|FES_ENST00000450438.2_Silent_p.L428L|FES_ENST00000394300.3_Silent_p.L498L|FES_ENST00000394302.1_Silent_p.L428L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	556					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGTGGGTGCTGAACCATGAGG	0.597																																					p.L556L													.	FES	102		0			c.G1668T												224	205	212					15																	91435302		2198	4298	6496	SO:0001819	synonymous_variant	2242	exon13			GGTGCTGAACCAT	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1668G>T	15.37:g.91435302G>T			36	0	0		35	0.11	4	NM_002005	1	0	0	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	CCDS10365.1																																																																																					0.597	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313497.1		NM_002005		T	91435302	G	T	91435302	2	4	125	1	0	0	0	0	0	0	0	1	5833	1277	45	3		3	FES	15	91435302	Silent	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	57508401	91435302	11096090	40	9332											
WDR90	197335	mdanderson.org	37	chr16	705434	705434	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggccttcaagcaggccCgggacggctgcccggagccc	6	4	14	17	3	1	0	1	0	0	0	1	2	1	2	5	5	3	2	5	5	1	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:705434C>A	ENST00000293879.4	+	15	1684	c.1684C>A	c.(1684-1686)Cgg>Agg	p.R562R	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.R562R			Q96KV7	WDR90_HUMAN	WD repeat domain 90	562										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CAAGCAGGCCCGGGACGGCTG	0.736																																					p.R562R													.	.			0			c.C1684A												9	15	13					16																	705434		2065	4159	6224	SO:0001819	synonymous_variant	197335	exon15			CAGGCCCGGGACG	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1684C>A	16.37:g.705434C>A			22	0	0		21	0.1	2	NM_145294	0		0	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	CCDS42092.1																																																																																					0.736	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000404335.1		NM_145294		A	705434	C	A	705434	2	1	125	1	0	0	0	0	0	0	0	1	17361	643	23	1		1	WDR90	16	705434	Silent	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10		705434	89649319	41	9333											
IFT140	9742	mdanderson.org	37	chr16	1574816	1574816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctggaagcagtggatgCggaccagggagaagtggtcc	9	6	17	9	1	0	1	0	0	0	1	1	5	1	4	3	5	3	1	3	5	2	0			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:1574816C>T	ENST00000426508.2	-	23	3329	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	IFT140_ENST00000361339.5_Missense_Mutation_p.R183H	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	989					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)				GCAGTGGATGCGGACCAGGGA	0.662																																					p.R989H													IFT140,NS,carcinoma,-1,1	IFT140	-1	1	0			c.G2966A												55	65	62					16																	1574816		2199	4300	6499	SO:0001583	missense	9742	exon23			TGGATGCGGACCA	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.2966G>A	16.37:g.1574816C>T	ENSP00000406012:p.Arg989His		44	0	0		47	0.06	3	NM_014714	0		0	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435616	0.96150	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.56275	0.47;0.47	5.53	4.56	0.56223	.	0.062488	0.64402	N	0.000003	T	0.77294	0.4109	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82317	-0.0517	10	0.56958	D	0.05	.	15.571	0.76337	0.1388:0.8612:0.0:0.0	.	989;676	Q96RY7;B4DR58	IF140_HUMAN;.	H	989;183;989	ENSP00000354895:R183H;ENSP00000406012:R989H	ENSP00000354895:R183H	R	-	2	0	IFT140	1514817	1.000000	0.71417	0.807000	0.32361	0.963000	0.63663	7.755000	0.85180	1.291000	0.44653	0.655000	0.94253	CGC			0.662	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250438.2		NM_014714		T	1574816	C	T	1574816	3	4	125	1	0	0	0	0	1	0	0	0	7571	768	27	1	1458	1	IFT140	16	1574816	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	869382	1574816	88779937	42	9334											
FLYWCH1	84256	ucsc.edu	37	chr16	2983280	2983280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcacggctgccggagccggGccatcacccagggacagcgg	7	3	16	15	4	1	0	1	0	0	0	1	2	1	2	4	5	4	2	4	5	0	0			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:2983280G>A	ENST00000253928.9	+	5	1351	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.A316T|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A315T			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	316						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CCGGAGCCGGGCCATCACCCA	0.672																																					p.A315T													.	FLYWCH1	27		0			c.G943A												21	25	24					16																	2983280		2112	4208	6320	SO:0001583	missense	84256	exon5			AGCCGGGCCATCA	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.946G>A	16.37:g.2983280G>A	ENSP00000253928:p.Ala316Thr		29	0	0		30	0.13	4	NM_020912	0		0	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37		.	.	.	.	.	.	.	.	.	.	G	17.44	3.389520	0.61956	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.29	4.29	0.51040	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.69160	0.3080	M	0.80422	2.495	0.28665	N	0.905919	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.91	T	0.63892	-0.6534	8	0.66056	D	0.02	.	12.6112	0.56552	0.0:0.0:1.0:0.0	.	316;315	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	T	316;316;315	.	ENSP00000253928:A316T	A	+	1	0	FLYWCH1	2923281	0.961000	0.32948	0.951000	0.38953	0.890000	0.51754	2.186000	0.42593	2.127000	0.65507	0.561000	0.74099	GCC			0.672	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000436479.1		NM_032296		A	2983280	G	A	2983280	3	1	125	1	0	0	0	0	1	0	0	0	5960	1203	42	2	953	2	FLYWCH1	16	2983280	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	1408464	2983280	87371473	43	9335											
SULT1A1	6817	hgsc.bcm.edu	37	chr16	28619841	28619841	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactcaaggaagggcacccGcatgaagatgggagctcggt	12	5	15	9	2	1	2	1	1	0	1	2	5	1	4	1	4	2	3	1	4	4	0	rs201320226		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:28619841G>T	ENST00000395607.1	-	3	505	c.232C>A	c.(232-234)Cgg>Agg	p.R78R	SULT1A1_ENST00000314752.7_Silent_p.R78R|SULT1A1_ENST00000395609.1_Silent_p.R78R|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.R78R	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	78					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)	p.R78W(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	AAGGGCACCCGCATGAAGATG	0.587																																					p.R78R													SULT1A1,colon,carcinoma,0,1	SULT1A1	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C232A												124	95	105					16																	28619841		2197	4300	6497	SO:0001819	synonymous_variant	6817	exon2			GCACCCGCATGAA	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.232C>A	16.37:g.28619841G>T			60	0	0		67	0.04	3	NM_177534	2	0	0	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	ENST00000395607.1	37	CCDS32420.1																																																																																					0.587	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254694.2		NM_001055		T	28619841	G	T	28619841	2	4	125	1	0	0	0	0	0	0	0	1	15395	1086	38	1		1	SULT1A1	16	28619841	Silent	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	25636561	28619841	61734912	44	9336											
ITGAX	3687	mdanderson.org	37	chr16	31367992	31367992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taacagctgccaaccaaacgGgtggcctctaccagtgtggc	10	7	11	13	1	1	0	0	0	1	0	1	0	1	0	4	3	6	1	4	3	4	2	rs369769040		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:31367992G>T	ENST00000268296.4	+	3	311	c.190G>T	c.(190-192)Ggt>Tgt	p.G64C	ITGAX_ENST00000562522.1_Missense_Mutation_p.G64C|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	64					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						CAACCAAACGGGTGGCCTCTA	0.627																																					p.G64C													.	.			0			c.G190T							G	CYS/GLY	2,4392		0,2,2195	46	39	41		190	4.4	0.1	16		41	0,8596		0,0,4298	no	missense	ITGAX	NM_000887.3	159	0,2,6493	TT,TG,GG		0.0,0.0455,0.0154	probably-damaging	64/1164	31367992	2,12988	2197	4298	6495	SO:0001583	missense	3687	exon3			CAAACGGGTGGCC	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.190G>T	16.37:g.31367992G>T	ENSP00000268296:p.Gly64Cys		34	0	0		44	0.07	3	NM_000887	2	0	0	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569367	0.65765	4.55E-4	0.0	ENSG00000140678	ENST00000268296	T	0.80566	-1.39	5.31	4.36	0.52297	.	.	.	.	.	D	0.91095	0.7197	M	0.93328	3.405	0.34767	D	0.733347	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94288	0.7526	9	0.87932	D	0	.	9.8468	0.41032	0.0953:0.0:0.9047:0.0	.	64;64	B4DKQ1;P20702	.;ITAX_HUMAN	C	64	ENSP00000268296:G64C	ENSP00000268296:G64C	G	+	1	0	ITGAX	31275493	0.997000	0.39634	0.058000	0.19502	0.102000	0.19082	5.190000	0.65104	1.232000	0.43678	0.484000	0.47621	GGT			0.627	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255628.2		NM_000887		T	31367992	G	T	31367992	3	4	125	1	0	0	0	0	1	0	0	0	7904	1232	43	3	200	3	ITGAX	16	31367992	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	2748151	31367992	58986761	45	9337											
ATP2C2	9914	mdanderson.org	37	chr16	84497330	84497330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccagatgcaccctgaaGatgtgtagtggaccgcactc	10	8	12	11	1	0	3	0	1	0	2	2	5	1	4	3	1	1	3	3	1	2	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr16:84497330G>T	ENST00000262429.4	+	27	2922	c.2833G>T	c.(2833-2835)Gat>Tat	p.D945Y	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.D974Y|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	945					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						GCACCCTGAAGATGTGTAGTG	0.517																																					p.D945Y													.	.			0			c.G2833T												115	123	120					16																	84497330		1982	4151	6133	SO:0001583	missense	9914	exon27			CCTGAAGATGTGT	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.2833G>T	16.37:g.84497330G>T	ENSP00000262429:p.Asp945Tyr		75	0	0		73	0.05	4	NM_014861	0		0	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736451	0.30774	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.93366	-3.18;-3.21	4.81	3.84	0.44239	.	.	.	.	.	D	0.86289	0.5897	N	0.08118	0	0.09310	N	1	B;B;P;P;P	0.44195	0.07;0.41;0.729;0.828;0.61	B;B;B;B;B	0.41946	0.123;0.094;0.264;0.371;0.135	T	0.78708	-0.2099	9	0.66056	D	0.02	.	11.8234	0.52252	0.0:0.0:0.8116:0.1883	.	974;794;794;962;945	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	Y	974;945;794	ENSP00000397925:D974Y;ENSP00000262429:D945Y	ENSP00000262429:D945Y	D	+	1	0	ATP2C2	83054831	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.804000	0.27098	0.972000	0.38314	0.655000	0.94253	GAT			0.517	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433404.1		NM_014861		T	84497330	G	T	84497330	3	4	125	1	0	0	0	0	1	0	0	0	1144	942	33	3	2939	3	ATP2C2	16	84497330	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	53129338	84497330	5857423	46	9338											
FAM101B	359845	mdanderson.org	37	chr17	293282	293282	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtacttgaccaaggaggtGtacctgggcgggagacataa	11	8	14	8	2	0	2	0	1	0	1	1	4	0	3	2	4	2	2	2	4	4	4			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:293282G>T	ENST00000329099.4	-	2	107	c.108C>A	c.(106-108)taC>taA	p.Y36*		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	106					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)		CCAAGGAGGTGTACCTGGGCG	0.647																																					.													.	.			0			.												42	47	45					17																	293282		2088	4220	6308	SO:0001587	stop_gained	359845	.			GGAGGTGTACCTG			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.108C>A	17.37:g.293282G>T	ENSP00000331915:p.Tyr36*		34	0	0		26	0.12	3	.	0		0		Nonsense_Mutation	SNP	ENST00000329099.4	37		.	.	.	.	.	.	.	.	.	.	G	13.76	2.333574	0.41297	.	.	ENSG00000183688	ENST00000329099	.	.	.	5.68	-0.0366	0.13888	.	0.054804	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.8413	10.1304	0.42676	0.3807:0.0:0.6193:0.0	.	.	.	.	X	36	.	ENSP00000331915:Y36X	Y	-	3	2	FAM101B	293510	1.000000	0.71417	0.989000	0.46669	0.086000	0.17979	2.732000	0.47352	0.089000	0.17243	-0.355000	0.07637	TAC			0.647	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255652.1		NM_182705		T	293282	G	T	293282	4	4	125	1	0	0	0	0	0	1	0	0	5391	1372	48	3	330	3	FAM101B	17	293282	Nonsense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		293282	80901928	47	9339											
OR1G1	8390	mdanderson.org	37	chr17	3030495	3030495	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtagcagtcataggccatGaccgccaagaggaatgcctc	12	6	11	12	2	1	2	1	1	0	1	2	3	1	3	4	2	2	2	4	2	4	2			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:3030495G>T	ENST00000328890.2	-	1	380	c.351C>A	c.(349-351)gtC>gtA	p.V117V		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	117					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)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CATAGGCCATGACCGCCAAGA	0.488																																					p.V117V	Colon(127;1481 1654 8243 19426 50557)												.	.			0			c.C351A												81	73	76					17																	3030495		2203	4300	6503	SO:0001819	synonymous_variant	8390	exon1			GGCCATGACCGCC	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.351C>A	17.37:g.3030495G>T			46	0	0		32	0.09	3	NM_003555	0		0	Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	ENST00000328890.2	37	CCDS11020.1																																																																																					0.488	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207206.2				T	3030495	G	T	3030495	2	4	125	1	0	0	0	0	0	0	0	1	10974	1277	45	3		3	OR1G1	17	3030495	Silent	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	2737213	3030495	78164715	48	9340											
TNK1	8711	mdanderson.org	37	chr17	7292338	7292338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagagctgactgctggCgcatcctggagcattaccag	8	8	13	12	1	0	2	0	1	0	1	2	3	2	3	3	3	4	4	3	3	1	1	rs375240414		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:7292338C>T	ENST00000576812.1	+	13	2305	c.1936C>T	c.(1936-1938)Cgc>Tgc	p.R646C	TNK1_ENST00000570896.1_Missense_Mutation_p.R641C|TNK1_ENST00000311668.2_Missense_Mutation_p.R641C	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				TGACTGCTGGCGCATCCTGGA	0.627													.|||	1	0.000199681	0	0	5008	,	,		18062	0		0	False		,,,				2504	0.001				p.R646C													.	.			0			c.C1936T												24	28	27					17																	7292338		2003	4128	6131	SO:0001583	missense	8711	exon13			TGCTGGCGCATCC	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1936C>T	17.37:g.7292338C>T	ENSP00000459799:p.Arg646Cys		68	0	0		44	0.07	3	NM_001251902	2	0	0		Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645528	0.47258	.	.	ENSG00000174292	ENST00000311668	T	0.77877	-1.13	5.73	3.71	0.42584	.	0.635768	0.14115	N	0.340447	T	0.81612	0.4859	L	0.54323	1.7	0.34261	D	0.679945	D;D	0.76494	0.999;0.998	P;P	0.59288	0.855;0.72	D	0.85062	0.0935	10	0.87932	D	0	.	9.2903	0.37782	0.1438:0.7788:0.0:0.0774	.	641;646	Q13470-2;Q13470	.;TNK1_HUMAN	C	641	ENSP00000312309:R641C	ENSP00000312309:R641C	R	+	1	0	TNK1	7233062	0.184000	0.23200	0.960000	0.40013	0.321000	0.28281	1.489000	0.35562	1.418000	0.47098	-0.182000	0.12963	CGC			0.627	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000440832.2		NM_003985		T	7292338	C	T	7292338	3	4	125	1	0	0	0	0	1	0	0	0	16340	768	27	1	1967	1	TNK1	17	7292338	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	4261843	7292338	73902872	49	9341											
TRAPPC1	58485	mdanderson.org	37	chr17	7834370	7834370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatctcggatgggtcccaCgcccaagtcagtattcatga	10	9	9	13	2	3	1	2	1	1	0	5	2	4	2	2	2	0	1	2	2	2	2			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:7834370C>T	ENST00000303731.4	-	3	383	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	TRAPPC1_ENST00000540486.1_Missense_Mutation_p.V90M|CNTROB_ENST00000565740.1_5'Flank|CNTROB_ENST00000380255.3_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000380262.3_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000563694.1_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	90					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				ATGGGTCCCACGCCCAAGTCA	0.562																																					p.V90M													TRAPPC1,NS,carcinoma,+1,1	TRAPPC1	1	1	0			c.G268A												102	90	94					17																	7834370		2203	4300	6503	SO:0001583	missense	58485	exon3			GTCCCACGCCCAA	AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"Trafficking protein particle complex"	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.268G>A	17.37:g.7834370C>T	ENSP00000302783:p.Val90Met		61	0	0		37	0.08	3	NM_021210	177	0	0	D3DTR0	Missense_Mutation	SNP	ENST00000303731.4	37	CCDS11125.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771613	0.49680	.	.	ENSG00000170043	ENST00000303731;ENST00000540486	T;T	0.44083	0.93;0.93	5.31	5.31	0.75309	Longin-like (1);	0.115379	0.64402	D	0.000019	T	0.36441	0.0967	L	0.47716	1.5	0.80722	D	1	P	0.52316	0.952	B	0.37144	0.242	T	0.31364	-0.9946	10	0.42905	T	0.14	-33.9784	17.737	0.88396	0.0:1.0:0.0:0.0	.	90	Q9Y5R8	TPPC1_HUMAN	M	90	ENSP00000302783:V90M;ENSP00000441130:V90M	ENSP00000302783:V90M	V	-	1	0	TRAPPC1	7775095	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	6.810000	0.75216	2.483000	0.83821	0.462000	0.41574	GTG			0.562	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226975.2		NM_021210		T	7834370	C	T	7834370	3	4	125	1	0	0	0	0	1	0	0	0	16480	536	19	1	177	1	TRAPPC1	17	7834370	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	542032	7834370	73360840	50	9342											
MAPK7	5598	mdanderson.org	37	chr17	19283106	19283106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcctcaggccagcaggtgGccatcaagaagatccctaat	11	7	10	13	0	2	2	2	0	0	2	4	2	4	2	4	3	1	2	4	3	3	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:19283106G>A	ENST00000308406.5	+	3	630	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A82T|MAPK7_ENST00000299612.7_Intron|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82T	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCAGCAGGTGGCCATCAAGAA	0.517																																					p.A82T													.	.			0			c.G244A												99	95	96					17																	19283106		2203	4300	6503	SO:0001583	missense	5598	exon3			CAGGTGGCCATCA	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.244G>A	17.37:g.19283106G>A	ENSP00000311005:p.Ala82Thr		33	0	0		19	0.11	2	NM_002749	0		0	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277357	0.95459	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112002	0.64402	D	0.000012	D	0.91529	0.7325	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94557	0.7759	10	0.87932	D	0	-16.6401	14.6711	0.68945	0.0:0.0:1.0:0.0	.	82	Q13164	MK07_HUMAN	T	82	ENSP00000311005:A82T;ENSP00000412902:A82T;ENSP00000378968:A82T;ENSP00000378966:A82T	ENSP00000311005:A82T	A	+	1	0	MAPK7	19223699	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.187000	0.94912	2.392000	0.81423	0.557000	0.71058	GCC			0.517	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132506.1		NM_139033		A	19283106	G	A	19283106	3	1	125	1	0	0	0	0	1	0	0	0	9298	1203	42	2	250	2	MAPK7	17	19283106	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	11448736	19283106	61912104	51	9343											
SLC47A2	146802	mdanderson.org	37	chr17	19584743	19584743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaaggcagcagttgccagGaagacacaggccagcatgcc	14	3	12	12	0	0	1	0	0	0	1	0	2	0	2	3	3	4	4	3	3	2	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:19584743G>T	ENST00000325411.5	-	15	1487	c.1437C>A	c.(1435-1437)ttC>ttA	p.F479L	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Missense_Mutation_p.F457L	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	479					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CAGTTGCCAGGAAGACACAGG	0.592																																					p.F479L													.	.			0			c.C1437A												56	47	50					17																	19584743		2203	4300	6503	SO:0001583	missense	146802	exon15			TGCCAGGAAGACA	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1437C>A	17.37:g.19584743G>T	ENSP00000326671:p.Phe479Leu		85	0	0		49	0.06	3	NM_152908	0		0	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	6.112	0.388940	0.11581	.	.	ENSG00000180638	ENST00000350657;ENST00000325411	T;T	0.30182	1.54;1.56	4.41	-0.284	0.12870	.	0.605156	0.17225	N	0.182179	T	0.07007	0.0178	N	0.01424	-0.875	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.10450	0.005;0.005;0.002	T	0.29336	-1.0015	10	0.06236	T	0.91	-0.8801	1.9513	0.03367	0.179:0.3268:0.3482:0.146	.	443;457;479	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	457;479	ENSP00000338084:F457L;ENSP00000326671:F479L	ENSP00000326671:F479L	F	-	3	2	SLC47A2	19525335	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.189000	0.09629	-0.196000	0.10366	0.467000	0.42956	TTC			0.592	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000132242.2		NM_152908		T	19584743	G	T	19584743	3	4	125	1	0	0	0	0	1	0	0	0	14671	1165	41	3	383	3	SLC47A2	17	19584743	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	301637	19584743	61610467	52	9344											
RUNDC3A	10900	mdanderson.org	37	chr17	42393855	42393855	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcactgggaacgcttaatggGgccgagggcgccagcaactc	9	6	14	12	3	1	0	1	0	0	0	2	2	1	1	2	4	3	2	2	4	3	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:42393855G>T	ENST00000426726.3	+	9	1330	c.1056G>T	c.(1054-1056)ggG>ggT	p.G352G	RUNDC3A_ENST00000225441.7_Silent_p.G352G|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Silent_p.G347G	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	352					positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGCTTAATGGGGCCGAGGGCG	0.642																																					p.G352G	Pancreas(82;1061 1416 11136 20771 23901)												.	.			0			c.G1056T												16	18	17					17																	42393855		1916	4126	6042	SO:0001819	synonymous_variant	10900	exon9			TAATGGGGCCGAG	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.1056G>T	17.37:g.42393855G>T			44	0	0		29	0.1	3	NM_006695	0		0	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Silent	SNP	ENST00000426726.3	37	CCDS45698.1																																																																																					0.642	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403173.2		NM_006695		T	42393855	G	T	42393855	2	4	125	1	0	0	0	0	0	0	0	1	13767	1219	43	3		3	RUNDC3A	17	42393855	Silent	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	22809112	42393855	38801355	53	9345											
CDC27	996	hgsc.bcm.edu	37	chr17	45216113	45216113	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttaacatacctctggcgAatttttatccatgtctgtta	9	17	7	8	1	2	0	0	0	2	0	3	1	3	0	2	2	2	2	2	2	5	6			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr17:45216113A>G	ENST00000066544.3	-	13	1789	c.1696T>C	c.(1696-1698)Tcg>Ccg	p.S566P	CDC27_ENST00000531206.1_Missense_Mutation_p.S572P|CDC27_ENST00000527547.1_Missense_Mutation_p.S565P|CDC27_ENST00000446365.2_Missense_Mutation_p.S505P	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	566					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACCTCTGGCGAATTTTTATCC	0.353																																					p.S572P													CDC27_ENST00000531206,caecum,carcinoma,+1,6	CDC27_ENST00000531206	1	6	0			c.T1714C												50	55	53					17																	45216113		2201	4299	6500	SO:0001583	missense	996	exon13			CTGGCGAATTTTT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1696T>C	17.37:g.45216113A>G	ENSP00000066544:p.Ser566Pro		30	0.0333333333	1		30	0.07	2	NM_001114091	9	0	0	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623261	0.87460	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.058252	0.64402	D	0.000001	T	0.71417	0.3337	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.73380	0.98;0.961;0.975;0.924	T	0.79176	-0.1911	10	0.87932	D	0	-9.281	13.77	0.63019	1.0:0.0:0.0:0.0	.	505;565;572;566	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	P	566;572;505;565	ENSP00000066544:S566P;ENSP00000434614:S572P;ENSP00000392802:S505P;ENSP00000437339:S565P	ENSP00000066544:S566P	S	-	1	0	CDC27	42571112	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.962000	0.93254	2.141000	0.66446	0.528000	0.53228	TCG			0.353	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2				G	45216113	A	G	45216113	3	3	125	1	0	0	0	0	1	0	0	0	3068	246	9	4	806	4	CDC27	17	45216113	Missense_Mutation	SNP	A	TCGA-XE-AAOL-01A-11D-A435-10	2822258	45216113	35979097	54	9346											
ANKRD30B	374860	mdanderson.org	37	chr18	14748616	14748616	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaagcccgtcaacctGaacaaaagagatatgaagaa	19	4	11	7	1	1	5	1	2	0	3	1	7	1	6	2	1	3	0	2	1	9	1			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr18:14748616G>T	ENST00000358984.4	+	1	378	c.198G>T	c.(196-198)ctG>ctT	p.L66L	ANKRD30B_ENST00000447268.2_Silent_p.L66L|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	66										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CCGTCAACCTGAACAAAAGAG	0.587																																					p.L66L													.	.			0			c.G198T												44	41	42					18																	14748616		692	1591	2283	SO:0001819	synonymous_variant	374860	exon1			CAACCTGAACAAA	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.198G>T	18.37:g.14748616G>T			62	0	0		49	0.06	3	NM_001145029	0		0	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																					0.587	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000443557.1		NM_001145029		T	14748616	G	T	14748616	2	4	125	1	0	0	0	0	0	0	0	1	659	1277	45	3		3	ANKRD30B	18	14748616	Silent	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		14748616	63328632	55	9347											
OCEL1	79629	mdanderson.org	37	chr19	17337509	17337509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccacccacaggccgcccGcagaccacccccgccgcgcg	6	2	10	23	6	0	1	0	0	0	1	1	1	1	1	8	1	0	1	8	1	0	0			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr19:17337509G>A	ENST00000215061.4	+	2	121	c.77G>A	c.(76-78)cGc>cAc	p.R26H	OCEL1_ENST00000601529.1_Missense_Mutation_p.R26H|OCEL1_ENST00000597836.1_5'UTR|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	26										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CAGGCCGCCCGCAGACCACCC	0.741																																					p.R26H													.	.			0			c.G77A												3	5	4					19																	17337509		1781	3588	5369	SO:0001583	missense	79629	exon2			CCGCCCGCAGACC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.77G>A	19.37:g.17337509G>A	ENSP00000215061:p.Arg26His		9	0	0		19	0.11	2	NM_024578	1	0	0		Missense_Mutation	SNP	ENST00000215061.4	37	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336616	0.81801	.	.	ENSG00000099330	ENST00000215061	T	0.45276	0.9	3.01	1.95	0.26073	.	0.150363	0.40554	N	0.001066	T	0.25158	0.0611	N	0.24115	0.695	0.27882	N	0.939633	B	0.26577	0.153	B	0.12156	0.007	T	0.20538	-1.0272	10	0.66056	D	0.02	.	8.5986	0.33732	0.1236:0.0:0.8764:0.0	.	26	Q9H607	OCEL1_HUMAN	H	26	ENSP00000215061:R26H	ENSP00000215061:R26H	R	+	2	0	OCEL1	17198509	0.010000	0.17322	0.992000	0.48379	0.943000	0.58893	-0.106000	0.10890	0.837000	0.34925	0.491000	0.48974	CGC			0.741	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463307.1		NM_024578		A	17337509	G	A	17337509	3	1	125	1	0	0	0	0	1	0	0	0	10833	1087	38	1	83	1	OCEL1	19	17337509	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		17337509	41791474	56	9348											
CAPNS1	826	broad.mit.edu	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000588780.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000587718.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	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.141C>T	19.37:g.36632054C>T			120	0.0166666667	2		103	0.1	10	NM_001749	1	1	1	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				T	36632054	C	T	36632054	2	4	125	1	0	0	0	0	0	0	0	1	2635	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	19294545	36632054	22496929	57	9349											
CNOT3	4849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	54651887	54651887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcccacccgcagtctcCagccaaaaacggctccaagc	10	6	6	19	2	2	0	0	0	2	0	6	0	4	0	5	1	3	2	5	1	3	0			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr19:54651887C>T	ENST00000406403.1	+	10	2502	c.899C>T	c.(898-900)cCa>cTa	p.P300L	CNOT3_ENST00000221232.5_Missense_Mutation_p.P300L|CNOT3_ENST00000358389.3_Missense_Mutation_p.P119L			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	300					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 stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCGCAGTCTCCAGCCAAAAAC	0.677																																					p.P300L													.	.			0			c.C899T												24	25	25					19																	54651887		2187	4279	6466	SO:0001583	missense	4849	exon11			AGTCTCCAGCCAA	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.899C>T	19.37:g.54651887C>T	ENSP00000383954:p.Pro300Leu		115	0	0		158	0.19	30	NM_014516	7	0.29	2	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.131190|4.131190	0.77549|0.77549	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	T;T;T|.	0.68479|.	0.74;-0.33;0.74|.	3.57|3.57	3.57|3.57	0.40892|0.40892	.|.	0.304568|.	0.30830|.	U|.	0.008795|.	T|.	0.49081|.	0.1536|.	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D;P;D|.	0.58268|.	0.965;0.816;0.982|.	B;B;P|.	0.50192|.	0.396;0.16;0.634|.	T|.	0.44065|.	-0.9352|.	10|.	0.06099|.	T|.	0.92|.	-3.9352|-3.9352	14.4909|14.4909	0.67649|0.67649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	300;300;224|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	L|X	300;119;300|222	ENSP00000221232:P300L;ENSP00000351159:P119L;ENSP00000383954:P300L|.	ENSP00000221232:P300L|.	P|Q	+|+	2|1	0|0	CNOT3|CNOT3	59343699|59343699	0.966000|0.966000	0.33281|0.33281	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.228000|4.228000	0.58619|0.58619	2.022000|2.022000	0.59522|0.59522	0.462000|0.462000	0.41574|0.41574	CCA|CAG			0.677	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142130.3		NM_014516		T	54651887	C	T	54651887	3	4	125	1	0	0	0	0	1	0	0	0	3622	594	21	3	937	3	CNOT3	19	54651887	Missense_Mutation	SNP	C	TCGA-XE-AAOL-01A-11D-A435-10	18019833	54651887	4477096	58	9350											
ZNF814	730051	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr19	58384415	58384415	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaaactggagctttcagcGaaagattttccacattcact	12	12	8	9	1	2	2	2	1	0	1	3	4	3	3	1	1	3	1	1	1	2	4	rs537301028	byFrequency	TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr19:58384415G>A	ENST00000435989.2	-	3	2577	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	781					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGCTTTCAGCGAAAGATTTTC	0.403													.|||	2	0.000399361	0	0.0014	5008	,	,		20762	0		0.001	False		,,,				2504	0				p.F781F													.	.			0			c.C2343T												68	57	60					19																	58384415		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			TTCAGCGAAAGAT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2343C>T	19.37:g.58384415G>A			97	0	0		87	0.06	5	NM_001144989	6	0	0	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																					0.403	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708		A	58384415	G	A	58384415	2	1	125	1	0	0	0	0	0	0	0	1	18199	1049	37	1		1	ZNF814	19	58384415	Silent	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	3732528	58384415	744568	59	9351											
NSFL1C	55968	mdanderson.org	37	chr20	1424434	1424434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacagcattgagcaggttgGcttccttcagggtctggctc	6	12	13	10	0	2	2	1	2	1	0	4	2	3	2	1	4	2	5	1	4	0	4			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr20:1424434G>T	ENST00000216879.4	-	9	1940	c.1073C>A	c.(1072-1074)gCc>gAc	p.A358D	NSFL1C_ENST00000476071.1_Missense_Mutation_p.A360D|NSFL1C_ENST00000350991.4_Missense_Mutation_p.A360D|NSFL1C_ENST00000353088.2_Missense_Mutation_p.A327D|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.A247D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	358	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GAGCAGGTTGGCTTCCTTCAG	0.587																																					p.A358D													.	.			0			c.C1073A												82	73	76					20																	1424434		2203	4300	6503	SO:0001583	missense	55968	exon9			AGGTTGGCTTCCT	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.1073C>A	20.37:g.1424434G>T	ENSP00000216879:p.Ala358Asp		41	0	0		45	0.07	3	NM_016143	112	0	0	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993148	0.93167	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	4.99	4.99	0.66335	UBX (3);	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.995;0.997;0.998	D	0.86292	0.1674	10	0.87932	D	0	-15.3013	16.9871	0.86342	0.0:0.0:1.0:0.0	.	327;247;358	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	D	327;360;358;247;360	ENSP00000338643:A327D;ENSP00000418529:A360D;ENSP00000216879:A358D;ENSP00000371074:A247D;ENSP00000202584:A360D	ENSP00000216879:A358D	A	-	2	0	NSFL1C	1372434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.540000	0.98080	2.756000	0.94617	0.561000	0.74099	GCC			0.587	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077525.2		NM_016143		T	1424434	G	T	1424434	3	4	125	1	0	0	0	0	1	0	0	0	10689	1203	42	2	43	2	NSFL1C	20	1424434	Missense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10		1424434	61601086	60	9352											
DYRK1A	1859	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	38884387	38884387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccaccaccaccaccaTcaccaccaccatggacaaca	15	3	2	21	0	2	0	2	0	0	0	2	1	2	1	8	1	1	0	8	1	1	0	rs372827991		TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr21:38884387T>C	ENST00000398960.2	+	11	1920	c.1845T>C	c.(1843-1845)caT>caC	p.H615H	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Silent_p.H606H|DYRK1A_ENST00000455387.2_Silent_p.H387H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	615	Poly-His.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						accaccaccatcaccaccacc	0.493																																					p.H615H	Melanoma(114;464 1602 31203 43785 45765)												.	DYRK1A	85		0			c.T1845C							C	,,,	0,4406		0,0,2203	90	79	82		1845,,1818,	2.1	1	21		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous,utr-3	DYRK1A	NM_001396.3,NM_101395.2,NM_130436.2,NM_130438.2	,,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,,	615/764,,606/755,	38884387	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1859	exon11			CCACCATCACCAC	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1845T>C	21.37:g.38884387T>C			97	0.0103092784	1		204	0.2	40	NM_001396	7	0.14	1	O60769|Q92582|Q92810|Q9UNM5	Silent	SNP	ENST00000398960.2	37	CCDS42925.1																																																																																					0.493	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194804.1		NM_001396		C	38884387	T	C	38884387	2	2	125	1	0	0	0	0	0	0	0	1	4859	1432	50	4		4	DYRK1A	21	38884387	Silent	SNP	T	TCGA-XE-AAOL-01A-11D-A435-10		38884387	9245508	61	9353											
LSS	4047	hgsc.bcm.edu;mdanderson.org	37	chr21	47642636	47642636	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagggatgcgtgccacgtgGcaagtgatcaggaggcctgt	9	7	17	8	2	1	2	1	1	0	1	1	4	1	4	2	4	2	1	2	4	1	0			TCGA-XE-AAOL-01A-11D-A435-10	TCGA-XE-AAOL-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	84e9847c-b405-4c3b-8cd1-13c357f89650	92f7f68c-d8cb-43dd-a559-5eaf1e860ec8	g.chr21:47642636G>T	ENST00000397728.3	-	4	414	c.336C>A	c.(334-336)tgC>tgA	p.C112*	LSS_ENST00000522411.1_Nonsense_Mutation_p.C112*|LSS_ENST00000457828.2_Nonsense_Mutation_p.C32*|LSS_ENST00000464357.1_5'UTR|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000356396.4_Nonsense_Mutation_p.C112*	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	112					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GTGCCACGTGGCAAGTGATCA	0.607																																					p.C112X	Pancreas(114;955 2313 34923 50507)												.	.			0			c.C336A												102	82	89					21																	47642636		2203	4300	6503	SO:0001587	stop_gained	4047	exon4			CACGTGGCAAGTG	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.336C>A	21.37:g.47642636G>T	ENSP00000380837:p.Cys112*		27	0	0		66	0.09	6	NM_001145436	0		0	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Nonsense_Mutation	SNP	ENST00000397728.3	37	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	38	6.821470	0.97865	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	.	.	.	5.17	3.34	0.38264	.	0.050281	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.0752	0.30712	0.3291:0.0:0.6709:0.0	.	.	.	.	X	112;32;112;112;113	.	ENSP00000348762:C112X	C	-	3	2	LSS	46467064	1.000000	0.71417	0.058000	0.19502	0.772000	0.43724	0.976000	0.29462	0.664000	0.31047	-0.192000	0.12808	TGC			0.607	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207274.2				T	47642636	G	T	47642636	4	4	125	1	0	0	0	0	0	1	0	0	9081	1195	42	2	1938	2	LSS	21	47642636	Nonsense_Mutation	SNP	G	TCGA-XE-AAOL-01A-11D-A435-10	8758249	47642636	487259	62	9354											
RNF207	388591	mdanderson.org	37	chr1	6266729	6266729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtttccacgacttctGtgccggctgcctgcgtggcc	3	11	13	14	3	1	0	0	0	1	0	2	2	2	1	4	3	3	2	4	3	0	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr1:6266729G>T	ENST00000377939.4	+	2	261	c.134G>T	c.(133-135)tGt>tTt	p.C45F	RNF207_ENST00000377948.2_5'UTR|RP1-120G22.11_ENST00000455744.1_RNA	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	45						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|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;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CACGACTTCTGTGCCGGCTGC	0.677																																					p.C45F													.	.			0			c.G134T												47	47	47					1																	6266729		2200	4300	6500	SO:0001583	missense	388591	exon2			ACTTCTGTGCCGG	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.134G>T	1.37:g.6266729G>T	ENSP00000367173:p.Cys45Phe		29	0	0		33	0.09	3	NM_207396	3	0	0	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	CCDS59.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923391	0.52653	.	.	ENSG00000158286	ENST00000377939	D	0.98362	-4.89	3.8	3.8	0.43715	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);	0.000000	0.56097	U	0.000025	D	0.99420	0.9795	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.97900	1.0302	10	0.87932	D	0	-19.602	14.8188	0.70055	0.0:0.0:1.0:0.0	.	45;45	Q6ZRF8;Q6ZRF8-2	RN207_HUMAN;.	F	45	ENSP00000367173:C45F	ENSP00000367173:C45F	C	+	2	0	RNF207	6189316	1.000000	0.71417	0.986000	0.45419	0.213000	0.24496	6.449000	0.73473	1.957000	0.56846	0.313000	0.20887	TGT			0.677	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000003669.2		NM_207396		T	6266729	G	T	6266729	3	4	126	1	0	0	0	0	1	0	0	0	13497	1377	48	3	136	3	RNF207	1	6266729	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10		6266729	242983892	1	9355											
ATP13A2	23400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	17318882	17318882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggtggaggacgctgactgGcaccgggggctcctcctgca	5	6	17	13	3	0	1	0	1	0	0	2	3	2	3	3	6	1	4	3	6	0	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr1:17318882G>A	ENST00000326735.8	-	18	1894	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S	ATP13A2_ENST00000341676.5_Missense_Mutation_p.P616S|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.P616S			Q9NQ11	AT132_HUMAN	ATPase type 13A2	621					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACGCTGACTGGCACCGGGGGC	0.687																																					p.P621S													.	.			0			c.C1861T												28	31	30					1																	17318882		2203	4298	6501	SO:0001583	missense	23400	exon18			TGACTGGCACCGG	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1861C>T	1.37:g.17318882G>A	ENSP00000327214:p.Pro621Ser		78	0	0		80	0.1	8	NM_022089	183	0.23	42	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	3.849	-0.032299	0.07543	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699	T;T;T	0.69306	-0.39;-0.39;-0.39	5.46	3.53	0.40419	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.150618	0.44285	D	0.000465	T	0.62624	0.2443	L	0.28274	0.84	0.40801	D	0.983349	P;D;B	0.58268	0.621;0.982;0.072	P;P;B	0.58620	0.688;0.842;0.105	T	0.56481	-0.7972	10	0.17369	T	0.5	-9.0708	9.5303	0.39189	0.0789:0.144:0.7771:0.0	.	616;616;621	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	S	621;616;616	ENSP00000327214:P621S;ENSP00000341115:P616S;ENSP00000413307:P616S	ENSP00000327214:P621S	P	-	1	0	ATP13A2	17191469	0.976000	0.34144	0.032000	0.17829	0.037000	0.13140	1.800000	0.38833	0.639000	0.30564	0.313000	0.20887	CCA			0.687	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000006617.1		NM_022089		A	17318882	G	A	17318882	3	1	126	1	0	0	0	0	1	0	0	0	1124	1203	42	2	1965	2	ATP13A2	1	17318882	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	11052153	17318882	231931739	2	9356											
EIF4G3	8672	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	21299496	21299496	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaataaaaatctcttacaGtttttttctctctcttggct	10	19	4	8	0	3	0	0	0	3	0	6	0	3	0	0	1	1	3	0	1	5	7			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr1:21299496G>A	ENST00000264211.8	-	5	616	c.422C>T	c.(421-423)aCt>aTt	p.T141I	EIF4G3_ENST00000356916.3_Splice_Site_p.T152I|EIF4G3_ENST00000602326.1_Splice_Site_p.T148I|EIF4G3_ENST00000374937.3_Splice_Site_p.T148I|EIF4G3_ENST00000374927.4_Splice_Site_p.T141I|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374935.3_Splice_Site_p.T141I|EIF4G3_ENST00000400422.1_Splice_Site_p.T141I	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	141	PABPC1-binding.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	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)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATCTCTTACAGTTTTTTTCTC	0.363																																					p.T152I													.	.			0			c.C455T												30	33	32					1																	21299496		2199	4299	6498	SO:0001630	splice_region_variant	8672	exon11			CTTACAGTTTTTT	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.423+1C>T	1.37:g.21299496G>A			64	0	0		69	0.19	13	NM_001198803	61	0.3	18	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508464	0.85282	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	6.05	6.05	0.98169	.	0.328143	0.36134	N	0.002769	T	0.44685	0.1305	L	0.37850	1.14	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.966;1.0;0.999;0.981	D;D;P;D;D;P	0.83275	0.974;0.99;0.543;0.996;0.99;0.77	T	0.06899	-1.0801	10	0.42905	T	0.14	-8.835	20.1963	0.98243	0.0:0.0:1.0:0.0	.	141;337;141;267;148;141	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	I	141;338;141;141;148;267;141;152;141;179	ENSP00000264211:T141I;ENSP00000383274:T141I;ENSP00000364071:T141I;ENSP00000364073:T148I;ENSP00000364062:T141I;ENSP00000395381:T141I;ENSP00000396083:T179I	ENSP00000264211:T141I	T	-	2	0	EIF4G3	21172083	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.753000	0.91637	2.878000	0.98634	0.650000	0.86243	ACT			0.363	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000007467.3		NM_003760	Missense_Mutation	A	21299496	G	A	21299496	5	1	126	1	0	0	0	0	0	0	1	0	5045	1043	36	3	4443	3	EIF4G3	1	21299496	Splice_Site	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	3980614	21299496	227951125	3	9357											
EPHB2	2048	mdanderson.org	37	chr1	23111394	23111394	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttccaggaaaccctgtcGggggctgagagcacatcgct	9	8	12	12	2	1	1	0	1	1	1	4	3	2	2	2	3	2	3	2	3	1	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr1:23111394G>T	ENST00000400191.3	+	3	654	c.636G>T	c.(634-636)tcG>tcT	p.S212S	EPHB2_ENST00000544305.1_Silent_p.S212S|EPHB2_ENST00000374630.3_Silent_p.S212S|EPHB2_ENST00000374632.3_Silent_p.S212S|EPHB2_ENST00000374627.1_Silent_p.S206S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	212	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.S212S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AAACCCTGTCGGGGGCTGAGA	0.622																																					p.S212S													EPHB2,NS,NS,0,1	EPHB2	0	1	1	Substitution - coding silent(1)	pancreas(1)	c.G636T												43	43	43					1																	23111394		2203	4300	6503	SO:0001819	synonymous_variant	2048	exon3			CCTGTCGGGGGCT	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.636G>T	1.37:g.23111394G>T			73	0	0		55	0.05	3	NM_004442	13	0	0	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37																																																																																						0.622	EPHB2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000008060.2		NM_017449		T	23111394	G	T	23111394	2	4	126	1	0	0	0	0	0	0	0	1	5182	1103	39	1		1	EPHB2	1	23111394	Silent	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	1811898	23111394	226139227	4	9358											
RAB42	115273	hgsc.bcm.edu;bcgsc.ca	37	chr1	28920547	28920547	+	Frame_Shift_Del	DEL	G	G	-																															catcaagctagaagagggctGggggggtgtccggctcatcc																										TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr1:28920547delG	ENST00000373826.3	+	2	542	c.236delG	c.(235-237)tggfs	p.W79fs	RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	79					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAGGGCTGGGGGGGTGTC	0.582																																					p.W192fs													.,1	.	10	1	0			c.574delT												28	31	30					1																	28920547		2203	4300	6503	SO:0001589	frameshift_variant	115273	exon2			AGGGCTGGGGGGG	BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"RAB, member RAS oncogene"	28702	protein-coding gene	gene with protein product			"RAB42, member RAS homolog family"				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.236delG	1.37:g.28920547delG	ENSP00000362932:p.Trp79fs		76	0	0		69	0.19	13	NM_001193532	44	0	0	B2R5G2	Frame_Shift_Del	DEL	ENST00000373826.3	37	CCDS325.1																																																																																					0.582	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010371.1		NM_152304		-	28920547	G	-	28920547	7	5	126	1	0	1	0	1	0	0	0	0	12967	1357	47	0	238	0	RAB42	1	28920547	Frame_Shift_Del	DEL	G	TCGA-XY-A89B-01A-11D-A435-10	5809153	28920547	220330074	5	9359											
GUCA2B	2981	mdanderson.org	37	chr1	42619175	42619175	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtggccgtggtcctcctGctgctgctgcagagcacaca	6	8	14	13	1	0	1	0	0	0	1	2	2	2	2	3	3	5	5	3	3	0	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr1:42619175G>C	ENST00000372581.1	+	1	84	c.54G>C	c.(52-54)ctG>ctC	p.L18L		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	18					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)				TGGTCCTCCTGCTGCTGCTGC	0.652																																					p.L18L													.	.			0			c.G54C												70	56	61					1																	42619175		2203	4300	6503	SO:0001819	synonymous_variant	2981	exon1			CCTCCTGCTGCTG	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.54G>C	1.37:g.42619175G>C			29	0	0		37	0.08	3	NM_007102	0		0	Q52LV0	Silent	SNP	ENST00000372581.1	37	CCDS464.1																																																																																					0.652	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000018307.1		NM_007102		C	42619175	G	C	42619175	2	2	126	1	0	0	0	0	0	0	0	1	6907	1306	46	5		5	GUCA2B	1	42619175	Silent	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	13698628	42619175	206631446	6	9360											
USP1	7398	broad.mit.edu;mdanderson.org	37	chr1	62916589	62916589	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagagaaggactttctgaaTtctctttccccttctacatc	10	14	6	11	0	3	2	0	1	3	1	6	5	4	3	2	1	1	0	2	1	4	5			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr1:62916589T>G	ENST00000339950.4	+	9	3110	c.2295T>G	c.(2293-2295)aaT>aaG	p.N765K	USP1_ENST00000371146.1_Missense_Mutation_p.N765K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	765	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		ACTTTCTGAATTCTCTTTCCC	0.343																																					p.N765K	Ovarian(122;1846 2315 3982 19504)												.	USP1	51		0			c.T2295G												107	114	112					1																	62916589		2203	4300	6503	SO:0001583	missense	7398	exon9			TCTGAATTCTCTT		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.2295T>G	1.37:g.62916589T>G	ENSP00000343526:p.Asn765Lys		43	0	0		53	0.11	6	NM_001017415	186	0.32	60	A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	CCDS621.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871200	0.33069	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.28895	1.59;1.59	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.205158	0.51477	D	0.000091	T	0.17492	0.0420	N	0.24115	0.695	0.35691	D	0.814834	P	0.49185	0.92	B	0.39152	0.292	T	0.14090	-1.0485	10	0.10636	T	0.68	-23.0937	11.1045	0.48194	0.0:0.071:0.0:0.929	.	765	O94782	UBP1_HUMAN	K	765	ENSP00000360188:N765K;ENSP00000343526:N765K	ENSP00000343526:N765K	N	+	3	2	USP1	62689177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.821000	0.39041	2.371000	0.80710	0.533000	0.62120	AAT			0.343	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000024881.1		NM_001017415		G	62916589	T	G	62916589	3	3	126	1	0	0	0	0	1	0	0	0	17064	1490	52	4	2325	4	USP1	1	62916589	Missense_Mutation	SNP	T	TCGA-XY-A89B-01A-11D-A435-10	20297414	62916589	186334032	7	9361											
NRAS	4893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	7	15	8	11	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	3	5	rs11554290	byFrequency	TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	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)																											p.Q61R				Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	NRAS,NS,haematopoietic_neoplasm,-1,2068	NRAS	-1	2068	1016	Substitution - Missense(1016)	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)	c.A182G												180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	TCTTCTTGTCCAG	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		97	0	0		101	0.18	18	NM_002524	156	0.32	50	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	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		C	115256529	T	C	115256529	3	2	126	1	0	0	0	0	1	0	0	0	10657	1812	63	4	399	4	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-XY-A89B-01A-11D-A435-10	52339940	115256529	133994092	8	9362											
IVL	3713	broad.mit.edu	37	chr1	152883337	152883337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaggggcagctggagcAcctggagcaccaggaagggc	10	2	19	10	0	0	0	0	0	0	0	0	4	0	4	2	7	3	5	2	7	1	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr1:152883337A>G	ENST00000368764.3	+	2	1128	c.1064A>G	c.(1063-1065)cAc>cGc	p.H355R	IVL_ENST00000392667.2_Missense_Mutation_p.H209R			P07476	INVO_HUMAN	involucrin	355	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cagctggagcacctggagcac	0.652																																					p.H355R													.	IVL	100		0			c.A1064G												15	15	15					1																	152883337		2104	4126	6230	SO:0001583	missense	3713	exon2			TGGAGCACCTGGA	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1064A>G	1.37:g.152883337A>G	ENSP00000357753:p.His355Arg		97	0.0103092784	1		79	0.05	4	NM_005547	0		0	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	4.310	0.056741	0.08339	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.13778	2.89;2.56	2.26	2.26	0.28386	.	.	.	.	.	T	0.02571	0.0078	L	0.36672	1.1	0.09310	N	1	P	0.37015	0.578	B	0.30572	0.117	T	0.38001	-0.9681	9	0.15066	T	0.55	.	6.5447	0.22400	1.0:0.0:0.0:0.0	.	355	P07476	INVO_HUMAN	R	355;209	ENSP00000357753:H355R;ENSP00000376435:H209R	ENSP00000357753:H355R	H	+	2	0	IVL	151149961	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.860000	0.04272	1.316000	0.45131	0.456000	0.33151	CAC			0.652	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034664.1		NM_005547		G	152883337	A	G	152883337	3	3	126	1	0	0	0	0	1	0	0	0	7944	159	6	4	1066	4	IVL	1	152883337	Missense_Mutation	SNP	A	TCGA-XY-A89B-01A-11D-A435-10	37626808	152883337	96367284	9	9363											
FMN2	56776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	240371435	240371435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacccggagtgggcatacCtcctccgccccctctacccg	5	8	8	20	3	2	0	0	0	2	0	4	1	4	1	7	2	3	1	7	2	3	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr1:240371435C>T	ENST00000319653.9	+	5	3553	c.3323C>T	c.(3322-3324)cCt>cTt	p.P1108L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1108	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTGGGCATACCTCCTCCGCCC	0.731																																					p.P1108L													FMN2,NS,carcinoma,-1,2	FMN2	-1	2	0			c.C3323T												8	11	10					1																	240371435		2057	4148	6205	SO:0001583	missense	56776	exon5			GCATACCTCCTCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3323C>T	1.37:g.240371435C>T	ENSP00000318884:p.Pro1108Leu		77	0	0		71	0.25	18	NM_020066	8	0.63	5	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	10.20	1.284780	0.23392	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.58	2.63	0.31362	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.000000	0.53938	D	0.000045	T	0.79569	0.4468	M	0.90542	3.125	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.82489	-0.0432	9	.	.	.	.	11.942	0.52907	0.1753:0.8246:0.0:0.0	.	1108	Q9NZ56	FMN2_HUMAN	L	1108	ENSP00000318884:P1108L	.	P	+	2	0	FMN2	238438058	0.052000	0.20516	0.003000	0.11579	0.013000	0.08279	1.620000	0.36976	0.802000	0.34089	0.484000	0.47621	CCT			0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		T	240371435	C	T	240371435	3	4	126	1	0	0	0	0	1	0	0	0	5963	681	24	3	3341	3	FMN2	1	240371435	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	87488098	240371435	8879186	10	9364											
ITGA4	3676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	182400167	182400167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctattttcaggctggcttCtttaaaagacaatacaaatc	13	14	6	8	0	2	1	1	0	1	1	3	1	2	1	0	2	2	3	0	2	6	7			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr2:182400167C>T	ENST00000397033.2	+	28	3442	c.3012C>T	c.(3010-3012)ttC>ttT	p.F1004F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	1004					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|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)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AGGCTGGCTTCTTTAAAAGAC	0.313																																					p.F1004F													ITGA4,NS,carcinoma,0,1	ITGA4	0	1	0			c.C3012T												120	121	121					2																	182400167		1829	4074	5903	SO:0001819	synonymous_variant	3676	exon28			TGGCTTCTTTAAA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.3012C>T	2.37:g.182400167C>T			237	0	0		269	0.13	34	NM_000885	75	0	0	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	CCDS42788.1																																																																																					0.313	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334427.1				T	182400167	C	T	182400167	2	4	126	1	0	0	0	0	0	0	0	1	7893	912	32	3		3	ITGA4	2	182400167	Silent	SNP	C	TCGA-XY-A89B-01A-11D-A435-10		182400167	60799206	11	9365											
KLHL30	377007	mdanderson.org	37	chr2	239050003	239050003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcgaggccctgatgcgctGggtgcgccatgacccgcagg	6	6	15	14	4	0	2	0	2	0	0	1	3	0	2	3	3	2	2	3	3	0	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr2:239050003G>T	ENST00000409223.1	+	2	715	c.608G>T	c.(607-609)tGg>tTg	p.W203L	KLHL30_ENST00000305959.4_Missense_Mutation_p.W185L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	203	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGATGCGCTGGGTGCGCCAT	0.701																																					p.W203L													.	.			0			c.G608T												9	13	12					2																	239050003		2090	4175	6265	SO:0001583	missense	377007	exon2			TGCGCTGGGTGCG		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.608G>T	2.37:g.239050003G>T	ENSP00000386389:p.Trp203Leu		22	0	0		18	0.17	3	NM_198582	0		0	Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794869	0.90453	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	D;D	0.85411	-1.98;-1.98	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.066689	0.64402	D	0.000003	D	0.95072	0.8404	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95943	0.8948	10	0.87932	D	0	.	18.8769	0.92341	0.0:0.0:1.0:0.0	.	203	Q0D2K2	KLH30_HUMAN	L	203;185	ENSP00000386389:W203L;ENSP00000302386:W185L	ENSP00000302386:W185L	W	+	2	0	KLHL30	238714742	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.646000	0.98474	2.757000	0.94681	0.655000	0.94253	TGG			0.701	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328518.1		NM_198582		T	239050003	G	T	239050003	3	4	126	1	0	0	0	0	1	0	0	0	8399	1357	47	3	610	3	KLHL30	2	239050003	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	56649836	239050003	4149370	12	9366											
P4HTM	54681	broad.mit.edu	37	chr3	49042374	49042374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcgatatggtgagggggGccactaccatgcccacgtgg	7	9	15	10	2	0	1	0	1	0	0	1	2	0	1	3	5	2	1	3	5	2	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr3:49042374G>T	ENST00000383729.4	+	6	1339	c.968G>T	c.(967-969)gGc>gTc	p.G323V	WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.G323V|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	323	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					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)	GGTGAGGGGGGCCACTACCAT	0.617																																					p.G323V													.	P4HTM	71		0			c.G968T												105	87	93					3																	49042374		2203	4300	6503	SO:0001583	missense	54681	exon6			AGGGGGGCCACTA		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.968G>T	3.37:g.49042374G>T	ENSP00000373235:p.Gly323Val		54	0	0		47	0.06	3	NM_177938	23	0	0	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554830	0.65425	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.61510	0.1	5.29	5.29	0.74685	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	M	0.81614	2.55	0.80722	D	1	P;P	0.46327	0.876;0.51	P;B	0.50192	0.634;0.269	T	0.74191	-0.3745	10	0.49607	T	0.09	-16.5162	19.0165	0.92897	0.0:0.0:1.0:0.0	.	323;323	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	V	323	ENSP00000373235:G323V	ENSP00000341422:G323V	G	+	2	0	P4HTM	49017378	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.376000	0.59556	2.491000	0.84063	0.650000	0.86243	GGC			0.617	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157211.1		NM_177938		T	49042374	G	T	49042374	3	4	126	1	0	0	0	0	1	0	0	0	11377	1203	42	2	990	2	P4HTM	3	49042374	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10		49042374	148980056	13	9367											
RBM15B	29890	mdanderson.org	37	chr3	51429280	51429280	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttgagccccgcgctGcccgccgagcacctcgagga	7	4	13	17	5	0	1	0	1	0	0	1	4	0	2	5	1	5	4	5	1	0	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr3:51429280G>T	ENST00000323686.4	+	1	550	c.450G>T	c.(448-450)ctG>ctT	p.L150L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	150	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		GCCCCGCGCTGCCCGCCGAGC	0.711																																					p.L150L													.	.			0			c.G450T												32	39	36					3																	51429280		2036	3982	6018	SO:0001819	synonymous_variant	29890	exon1			CGCGCTGCCCGCC	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.450G>T	3.37:g.51429280G>T			19	0	0		16	0.19	3	NM_013286	36	0	0	A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	CCDS33764.1																																																																																					0.711	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346489.1		NM_013286		T	51429280	G	T	51429280	2	4	126	1	0	0	0	0	0	0	0	1	13140	1306	46	2		2	RBM15B	3	51429280	Silent	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	2386906	51429280	146593150	14	9368											
COPG	22820	mdanderson.org	37	chr3	128979230	128979230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccgctatgctgctgttcGtaccctcaataaggtaagag	9	12	9	11	2	2	1	1	0	1	1	4	1	2	1	2	1	3	6	2	1	5	5			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr3:128979230G>A	ENST00000314797.6	+	11	1030	c.926G>A	c.(925-927)cGt>cAt	p.R309H		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	309					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GCTGCTGTTCGTACCCTCAAT	0.552																																					p.R309H													.	.			0			c.G926A												120	110	114					3																	128979230		2203	4300	6503	SO:0001583	missense	22820	exon11			CTGTTCGTACCCT	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.926G>A	3.37:g.128979230G>A	ENSP00000325002:p.Arg309His		44	0	0		39	0.08	3	NM_016128	213	0	0	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761868	0.49468	.	.	ENSG00000181789	ENST00000314797	T	0.28895	1.59	6.0	6.0	0.97389	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.59018	0.2163	M	0.79614	2.46	0.53688	D	0.999979	D	0.76494	0.999	D	0.78314	0.991	T	0.59091	-0.7519	10	0.62326	D	0.03	-17.6909	18.0533	0.89356	0.0:0.0:1.0:0.0	.	309	Q9Y678	COPG_HUMAN	H	309	ENSP00000325002:R309H	ENSP00000325002:R309H	R	+	2	0	COPG	130461920	1.000000	0.71417	0.099000	0.21106	0.002000	0.02628	9.587000	0.98229	2.868000	0.98415	0.555000	0.69702	CGT			0.552	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355456.1		NM_016128		A	128979230	G	A	128979230	3	1	126	1	0	0	0	0	1	0	0	0	3733	1145	40	1	968	1	COPG	3	128979230	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	77549950	128979230	69043200	15	9369											
TBCCD1	55171	mdanderson.org	37	chr3	186272317	186272317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catatggtcctctagcattgGgtaatgtgtatgaaaagggg	11	12	13	5	0	1	1	0	1	1	0	2	1	2	1	1	4	1	3	1	4	6	5			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr3:186272317G>T	ENST00000424280.1	-	6	1749	c.1270C>A	c.(1270-1272)Cca>Aca	p.P424T	TBCCD1_ENST00000338733.5_Missense_Mutation_p.P424T|TBCCD1_ENST00000446782.1_Missense_Mutation_p.P328T|TBCCD1_ENST00000479590.1_5'Flank	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	424	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				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)		TCTAGCATTGGGTAATGTGTA	0.468																																					p.P424T													.	.			0			c.C1270A												101	95	97					3																	186272317		2203	4300	6503	SO:0001583	missense	55171	exon6			GCATTGGGTAATG	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.1270C>A	3.37:g.186272317G>T	ENSP00000411253:p.Pro424Thr		78	0	0		56	0.05	3	NM_001134415	78	0	0	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082105	0.76528	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.87491	-2.26;-2.26;-2.26	5.81	5.81	0.92471	Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.108809	0.64402	D	0.000004	D	0.92077	0.7489	M	0.79693	2.465	0.53688	D	0.999977	D;D	0.64830	0.994;0.99	P;P	0.62649	0.905;0.898	D	0.91828	0.5473	10	0.52906	T	0.07	-12.264	10.9854	0.47518	0.084:0.0:0.916:0.0	.	328;424	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	T	424;424;328	ENSP00000411253:P424T;ENSP00000341652:P424T;ENSP00000397091:P328T	ENSP00000341652:P424T	P	-	1	0	TBCCD1	187755011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	2.763000	0.94921	0.552000	0.68991	CCA			0.468	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344774.1		NM_018138		T	186272317	G	T	186272317	3	4	126	1	0	0	0	0	1	0	0	0	15655	1232	43	3	411	3	TBCCD1	3	186272317	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	57293087	186272317	11750113	16	9370											
MFSD10	10227	mdanderson.org	37	chr4	2932979	2932979	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagcgaccacggaggacagGcagggcaccacaacggcggc	11	0	15	15	4	0	0	0	0	0	0	0	3	0	2	3	6	2	2	3	6	1	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr4:2932979G>T	ENST00000329687.4	-	10	1671	c.1137C>A	c.(1135-1137)tgC>tgA	p.C379*	MFSD10_ENST00000508221.1_Intron|MFSD10_ENST00000507555.1_Missense_Mutation_p.A343D|MFSD10_ENST00000514800.1_Nonsense_Mutation_p.C379*|MFSD10_ENST00000355443.4_Nonsense_Mutation_p.C379*	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	379					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGGAGGACAGGCAGGGCACCA	0.687																																					p.C379X													.	.			0			c.C1137A												26	31	30					4																	2932979		2160	4271	6431	SO:0001587	stop_gained	10227	exon11			GGACAGGCAGGGC	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.1137C>A	4.37:g.2932979G>T	ENSP00000332646:p.Cys379*		53	0	0		40	0.08	3	NM_001146069	109	0	0	Q07706	Nonsense_Mutation	SNP	ENST00000329687.4	37	CCDS3365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.048024|5.048024	0.93740|0.93740	.|.	.|.	ENSG00000109736|ENSG00000109736	ENST00000507555|ENST00000514800;ENST00000355443;ENST00000329687	T|.	0.76839|.	-1.05|.	3.65|3.65	1.8|1.8	0.24995|0.24995	.|.	.|0.100469	.|0.64402	.|D	.|0.000001	T|.	0.09158|.	0.0226|.	.|.	.|.	.|.	0.22975|0.22975	N|N	0.998483|0.998483	B|.	0.21905|.	0.062|.	B|.	0.19391|.	0.025|.	T|.	0.33727|.	-0.9857|.	8|.	0.87932|0.02654	D|T	0|1	-0.3106|-0.3106	3.7371|3.7371	0.08515|0.08515	0.2749:0.0:0.5376:0.1874|0.2749:0.0:0.5376:0.1874	.|.	343|.	D6RA47|.	.|.	D|X	343|379	ENSP00000423402:A343D|.	ENSP00000423402:A343D|ENSP00000332646:C379X	A|C	-|-	2|3	0|2	MFSD10|MFSD10	2902777|2902777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	0.957000|0.957000	0.29215|0.29215	0.288000|0.288000	0.22398|0.22398	0.561000|0.561000	0.74099|0.74099	GCC|TGC			0.687	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358072.2		NM_001120		T	2932979	G	T	2932979	4	4	126	1	0	0	0	0	0	1	0	0	9544	1195	42	2	242	2	MFSD10	4	2932979	Nonsense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10		2932979	188221297	17	9371											
BTC	685	mdanderson.org	37	chr4	75719476	75719476	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcacggccacttacccagGgcaagggccaggagcagtgg	10	3	15	13	1	0	0	0	0	0	0	0	1	0	1	3	5	3	3	3	5	2	1	rs544207492		TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr4:75719476G>T	ENST00000395743.3	-	1	420	c.60C>A	c.(58-60)gcC>gcA	p.A20A		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	20					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)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			ACTTACCCAGGGCAAGGGCCA	0.692																																					p.A20A													.	.			0			c.C60A												4	5	4					4																	75719476		1846	3536	5382	SO:0001819	synonymous_variant	685	exon1			ACCCAGGGCAAGG	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.60C>A	4.37:g.75719476G>T			42	0	0		31	0.1	3	NM_001729	0		0	Q96F48	Silent	SNP	ENST00000395743.3	37	CCDS3566.1																																																																																					0.692	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252413.1				T	75719476	G	T	75719476	2	4	126	1	0	0	0	0	0	0	0	1	1551	1219	43	3		3	BTC	4	75719476	Silent	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	72786497	75719476	115434800	18	9372											
FAM198B	51313	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	159092431	159092431	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaggtttctccgggtccTtggacgccggctgctccaga	6	9	13	13	3	1	2	0	0	1	2	4	3	3	3	4	4	1	3	4	4	1	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr4:159092431T>A	ENST00000296530.8	-	2	718	c.97A>T	c.(97-99)Agg>Tgg	p.R33W	RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.R33W|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.R33W|FAM198B_ENST00000393807.5_Missense_Mutation_p.R33W|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	33						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTCCGGGTCCTTGGACGCCGG	0.627																																					p.R33W													.	.			0			c.A97T												40	42	41					4																	159092431		2200	4295	6495	SO:0001583	missense	51313	exon2			GGGTCCTTGGACG		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.97A>T	4.37:g.159092431T>A	ENSP00000296530:p.Arg33Trp		109	0	0		83	0.08	7	NM_016613	21	0	0	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739680	0.69304	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.34667	1.36;1.35	5.21	1.15	0.20763	.	0.201361	0.44688	D	0.000421	T	0.52901	0.1763	L	0.60455	1.87	0.36456	D	0.866377	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.977;0.977	T	0.60875	-0.7176	10	0.87932	D	0	-0.6057	12.7646	0.57385	0.0:0.0:0.394:0.606	.	33;33;33	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	W	33	ENSP00000296530:R33W;ENSP00000377396:R33W	ENSP00000296530:R33W	R	-	1	2	FAM198B	159311881	0.543000	0.26434	0.390000	0.26220	0.988000	0.76386	0.631000	0.24568	0.060000	0.16281	0.533000	0.62120	AGG			0.627	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365230.1		NM_001031700, NM_016613		A	159092431	T	A	159092431	3	1	126	1	0	0	0	0	1	0	0	0	5539	1608	56	5	1583	5	FAM198B	4	159092431	Missense_Mutation	SNP	T	TCGA-XY-A89B-01A-11D-A435-10	83372955	159092431	32061845	19	9373											
ADCY2	108	broad.mit.edu;mdanderson.org	37	chr5	7396571	7396571	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctgctgctcatcgtCatgggctcctgcctcgccct	2	13	9	17	2	3	0	2	0	1	0	7	0	5	0	4	1	3	3	4	1	0	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr5:7396571C>A	ENST00000338316.4	+	1	251	c.162C>A	c.(160-162)gtC>gtA	p.V54V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	54					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						TGCTCATCGTCATGGGCTCCT	0.706																																					p.V54V													.	ADCY2	337		0			c.C162A												52	44	47					5																	7396571		2203	4296	6499	SO:0001819	synonymous_variant	108	exon1			CATCGTCATGGGC	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.162C>A	5.37:g.7396571C>A			75	0.0266666667	2		59	0.19	11	NM_020546	0		0	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																					0.706	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206930.2		NM_020546		A	7396571	C	A	7396571	2	1	126	1	0	0	0	0	0	0	0	1	294	813	29	3		3	ADCY2	5	7396571	Silent	SNP	C	TCGA-XY-A89B-01A-11D-A435-10		7396571	173518689	20	9374											
DMXL1	1657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	118469192	118469192	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttcttgattctaggtgTcctttgtttccagaattcca	6	19	7	9	0	2	2	0	1	2	1	5	2	5	2	3	1	1	2	3	1	2	7			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr5:118469192T>A	ENST00000311085.8	+	12	1653	c.1573T>A	c.(1573-1575)Tcc>Acc	p.S525T	DMXL1_ENST00000539542.1_Missense_Mutation_p.S525T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	525										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)		ATTCTAGGTGTCCTTTGTTTC	0.368																																					p.S525T													.	.			0			c.T1573A												100	105	103					5																	118469192		2201	4298	6499	SO:0001583	missense	1657	exon12			TAGGTGTCCTTTG	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.1573T>A	5.37:g.118469192T>A	ENSP00000309690:p.Ser525Thr		85	0	0		81	0.19	15	NM_005509	22	0.32	7		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069919	0.76301	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.60299	0.2;0.2;0.2	5.57	5.57	0.84162	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.78344	2.41	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.66979	0.936;0.948	T	0.79017	-0.1975	10	0.66056	D	0.02	-6.7971	15.7298	0.77792	0.0:0.0:0.0:1.0	.	525;525	F5H269;Q9Y485	.;DMXL1_HUMAN	T	525	ENSP00000427692:S525T;ENSP00000309690:S525T;ENSP00000439479:S525T	ENSP00000309690:S525T	S	+	1	0	DMXL1	118497091	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.135000	0.66039	0.482000	0.46254	TCC			0.368	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250862.1		NM_005509		A	118469192	T	A	118469192	3	1	126	1	0	0	0	0	1	0	0	0	4599	1667	58	5	1619	5	DMXL1	5	118469192	Missense_Mutation	SNP	T	TCGA-XY-A89B-01A-11D-A435-10	111072621	118469192	62446068	21	9375											
SYCP2L	221711	mdanderson.org	37	chr6	10928665	10928665	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctccgttcggggtcccTgacttcccgcaacaacctgt	5	10	9	17	3	0	1	0	1	0	0	5	1	4	1	5	2	2	2	5	2	2	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr6:10928665T>C	ENST00000283141.6	+	18	1766	c.1470T>C	c.(1468-1470)ccT>ccC	p.P490P	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	490						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)			tcggggtccctgacttcccgc	0.478																																					p.P490P													.	.			0			c.T1470C												81	86	84					6																	10928665		1888	4100	5988	SO:0001819	synonymous_variant	221711	exon18			GGTCCCTGACTTC	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.1470T>C	6.37:g.10928665T>C			25	0	0		48	0.06	3	NM_001040274	23	0	0	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	CCDS43423.1																																																																																					0.478	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039845.3		NM_194299		C	10928665	T	C	10928665	2	2	126	1	0	0	0	0	0	0	0	1	15456	1567	55	4		4	SYCP2L	6	10928665	Silent	SNP	T	TCGA-XY-A89B-01A-11D-A435-10		10928665	160186402	22	9376											
NFKBIL1	4795	mdanderson.org	37	chr6	31525456	31525456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgctgtccctccgccatggGaataaagaataaggatgggg	11	7	13	10	2	0	1	0	0	0	1	2	3	2	3	4	4	0	1	4	4	5	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr6:31525456G>T	ENST00000376148.4	+	3	500	c.386G>T	c.(385-387)gGa>gTa	p.G129V	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.G129V	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	129					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						TCCGCCATGGGAATAAAGAAT	0.572																																					p.G129V													.	.			0			c.G386T												43	46	45					6																	31525456		2203	4300	6503	SO:0001583	missense	4795	exon3			CCATGGGAATAAA	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.386G>T	6.37:g.31525456G>T	ENSP00000365318:p.Gly129Val		72	0	0		70	0.06	4	NM_001144961	79	0	0	A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP	ENST00000376148.4	37	CCDS4700.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314166	0.60414	.	.	ENSG00000204498	ENST00000376146;ENST00000542852;ENST00000376148;ENST00000376145	T;T;T	0.68181	-0.31;-0.31;-0.31	6.08	5.04	0.67666	Ankyrin repeat-containing domain (3);	0.310616	0.35349	N	0.003267	T	0.61527	0.2354	N	0.22421	0.69	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.994;0.994	D;P;P	0.87578	0.998;0.854;0.854	T	0.62369	-0.6869	10	0.41790	T	0.15	-16.7838	11.1321	0.48354	0.095:0.0:0.905:0.0	.	106;129;129	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	V	106;106;129;129	ENSP00000365316:G106V;ENSP00000365318:G129V;ENSP00000365315:G129V	ENSP00000365315:G129V	G	+	2	0	NFKBIL1	31633435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.663000	0.46774	2.894000	0.99253	0.591000	0.81541	GGA			0.572	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076036.3		NM_005007		T	31525456	G	T	31525456	3	4	126	1	0	0	0	0	1	0	0	0	10398	1174	41	3	396	3	NFKBIL1	6	31525456	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	20596791	31525456	139589611	23	9377											
GRM4	2914	broad.mit.edu	37	chr6	34101114	34101114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggccatgcaccgggaacaGgcctcccagtgtgatgtccc	7	6	12	16	2	0	1	0	1	0	0	2	2	2	2	6	3	2	1	6	3	1	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr6:34101114G>T	ENST00000538487.2	-	2	603	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Missense_Mutation_p.L54M	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	54					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						ACCGGGAACAGGCCTCCCAGT	0.607																																					p.L54M													.	GRM4	317		0			c.C160A												49	43	45					6																	34101114		2203	4300	6503	SO:0001583	missense	2914	exon2			GGAACAGGCCTCC	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.160C>A	6.37:g.34101114G>T	ENSP00000440556:p.Leu54Met		72	0	0		64	0.05	3	NM_001256811	0		0	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112380	0.77210	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	T;T	0.81330	-1.48;-1.48	4.0	4.0	0.46444	.	0.096640	0.42964	D	0.000624	D	0.87981	0.6315	M	0.81942	2.565	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.962;0.994	D	0.89608	0.3839	10	0.66056	D	0.02	.	16.2289	0.82318	0.0:0.0:1.0:0.0	.	54;54	B7ZLU9;Q14833	.;GRM4_HUMAN	M	54	ENSP00000363296:L54M;ENSP00000440556:L54M	ENSP00000363296:L54M	L	-	1	2	GRM4	34209092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.504000	0.73704	2.231000	0.72958	0.467000	0.42956	CTG			0.607	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040213.2				T	34101114	G	T	34101114	3	4	126	1	0	0	0	0	1	0	0	0	6814	991	35	3	2618	3	GRM4	6	34101114	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	2575658	34101114	137013953	24	9378											
PHKG1	5260	mdanderson.org	37	chr7	56148891	56148891	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgagccggcgcagaggccgGagggcataggggtctcggat	8	5	19	9	4	1	2	0	1	1	1	2	4	1	4	2	7	1	2	2	7	1	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr7:56148891G>T	ENST00000297373.2	-	10	1214	c.1020C>A	c.(1018-1020)ctC>ctA	p.L340L	PHKG1_ENST00000537360.1_Silent_p.L286L|PHKG1_ENST00000489604.1_5'Flank|PHKG1_ENST00000452681.2_Silent_p.L372L	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	340					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCAGAGGCCGGAGGGCATAGG	0.617																																					p.L372L	Melanoma(184;580 2064 5329 24177 35303)												.	.			0			c.C1116A												60	57	58					7																	56148891		2203	4300	6503	SO:0001819	synonymous_variant	5260	exon11			AGGCCGGAGGGCA	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.1020C>A	7.37:g.56148891G>T			46	0	0		44	0.07	3	NM_001258459	1	0	0	B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	CCDS5525.1																																																																																					0.617	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251587.1		NM_006213		T	56148891	G	T	56148891	2	4	126	1	0	0	0	0	0	0	0	1	11863	1161	41	3		3	PHKG1	7	56148891	Silent	SNP	G	TCGA-XY-A89B-01A-11D-A435-10		56148891	102989772	25	9379											
HIP1	3092	mdanderson.org	37	chr7	75368221	75368221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcacctgcttcatggaGctggccatccgatccatgtc	6	11	11	13	1	1	0	1	0	0	0	4	2	3	1	4	3	2	3	4	3	0	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr7:75368221G>T	ENST00000336926.6	-	1	44	c.18C>A	c.(16-18)agC>agA	p.S6R	HIP1_ENST00000434438.2_Missense_Mutation_p.S6R|HIP1_ENST00000479835.1_5'UTR	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	6					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTTCATGGAGCTGGCCATCC	0.751			T	PDGFRB	CMML																																p.S6R				Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	.			0			c.C18A												5	5	5					7																	75368221		2025	4019	6044	SO:0001583	missense	3092	exon1			CATGGAGCTGGCC	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.18C>A	7.37:g.75368221G>T	ENSP00000336747:p.Ser6Arg		30	0	0		45	0.09	4	NM_001243198	2	0	0	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529854	0.85706	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15139	2.69;2.45	4.96	4.96	0.65561	.	0.086938	0.41938	U	0.000799	T	0.28962	0.0719	L	0.29908	0.895	0.44055	D	0.996792	D	0.65815	0.995	D	0.70487	0.969	T	0.02424	-1.1161	10	0.66056	D	0.02	-10.2405	13.6835	0.62502	0.0:0.0:1.0:0.0	.	6	O00291	HIP1_HUMAN	R	6	ENSP00000336747:S6R;ENSP00000410300:S6R	ENSP00000336747:S6R	S	-	3	2	HIP1	75206157	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.971000	0.40530	2.277000	0.76020	0.460000	0.39030	AGC			0.751	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342863.2		NM_005338		T	75368221	G	T	75368221	3	4	126	1	0	0	0	0	1	0	0	0	7129	962	34	2	3219	2	HIP1	7	75368221	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	19219330	75368221	83770442	26	9380											
AP1S1	1174	bcgsc.ca;mdanderson.org	37	chr7	100799986	100799986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgagctcatgcaggttGtcctggctcgaaagcccaag	8	8	13	12	3	1	0	1	0	0	0	3	2	2	0	2	2	4	4	2	2	2	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr7:100799986G>A	ENST00000337619.5	+	2	233	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	39					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					CATGCAGGTTGTCCTGGCTCG	0.537																																					p.V39I													.	AP1S1	22		0			c.G115A												46	50	49					7																	100799986		2045	4187	6232	SO:0001583	missense	1174	exon2			CAGGTTGTCCTGG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, small 1 (19kD)", "clathrin coat assembly protein AP19", "sigma1A subunit of AP-1 clathrin adaptor complex", "AP-1 complex subunit sigma-1A", "sigma1A-adaptin", "golgi adaptor HA1/AP1 adaptin sigma-1A subunit", "clathrin assembly protein complex 1 sigma-1A small chain", "HA1 19 kDa subunit"	603531	"erythrokeratodermia variabilis 3 (Kamouraska type)"	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.115G>A	7.37:g.100799986G>A	ENSP00000336666:p.Val39Ile		70	0	0		64	0.19	12	NM_001283	124	0.15	18	B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	ENST00000337619.5	37	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183518	0.21870	.	.	ENSG00000106367	ENST00000337619	.	.	.	5.84	4.95	0.65309	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.64402	D	0.000001	T	0.39036	0.1063	N	0.11651	0.15	0.43678	D	0.996117	B	0.02656	0.0	B	0.17979	0.02	T	0.15549	-1.0433	9	0.23302	T	0.38	-6.3215	14.7995	0.69903	0.0:0.145:0.855:0.0	.	39	P61966	AP1S1_HUMAN	I	39	.	ENSP00000336666:V39I	V	+	1	0	AP1S1	100586706	0.998000	0.40836	0.111000	0.21465	0.964000	0.63967	2.508000	0.45450	1.454000	0.47793	0.561000	0.74099	GTC			0.537	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347439.1		NM_001283		A	100799986	G	A	100799986	3	1	126	1	0	0	0	0	1	0	0	0	736	1377	48	3	121	3	AP1S1	7	100799986	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	25431765	100799986	58338677	27	9381											
ARFGEF1	10565	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	68128855	68128855	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttacaggagatggaggTgggggggcagtttctccaga	9	9	16	7	0	2	2	1	0	1	2	3	4	2	3	1	6	1	2	1	6	1	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr8:68128855T>A	ENST00000262215.3	-	33	5045	c.4656A>T	c.(4654-4656)ccA>ccT	p.P1552P	ARFGEF1_ENST00000520381.1_Silent_p.P1006P|ARFGEF1_ENST00000518230.1_Silent_p.P390P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAG	0.418																																					p.P1552P													.	ARFGEF1	196		0			c.A4656T												57	60	59					8																	68128855		2203	4300	6503	SO:0001819	synonymous_variant	10565	exon33			TGGAGGTGGGGGG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656A>T	8.37:g.68128855T>A			211	0.0142180095	3		243	0.12	28	NM_006421	333	0.23	76	Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	CCDS6199.1																																																																																					0.418	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379441.4		NM_006421		A	68128855	T	A	68128855	2	1	126	1	0	0	0	0	0	0	0	1	852	1683	59	5		5	ARFGEF1	8	68128855	Silent	SNP	T	TCGA-XY-A89B-01A-11D-A435-10		68128855	78235167	28	9382											
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	114132781	114132781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctttggtggccttcaaGatatcagctgcacagctgat	8	13	9	11	0	3	2	2	1	1	1	4	2	4	2	2	2	3	3	2	2	2	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr9:114132781G>A	ENST00000338205.5	-	44	5127	c.4908C>T	c.(4906-4908)atC>atT	p.I1636I	KIAA0368_ENST00000374378.3_Silent_p.I100I|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000259335.4_Silent_p.I1814I			Q5VYK3	ECM29_HUMAN	KIAA0368	1642					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGGCCTTCAAGATATCAGCTG	0.403																																					p.I1814I													.	.			0			c.C5442T												69	66	67					9																	114132781		1906	4118	6024	SO:0001819	synonymous_variant	23392	exon46			CTTCAAGATATCA	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4908C>T	9.37:g.114132781G>A			88	0	0		112	0.11	12	NM_001080398	688	0.26	181	O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																						0.403	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000053637.2		NM_014686		A	114132781	G	A	114132781	2	1	126	1	0	0	0	0	0	0	0	1	8186	932	33	3		3	KIAA0368	9	114132781	Silent	SNP	G	TCGA-XY-A89B-01A-11D-A435-10		114132781	27080650	29	9383											
ENG	2022	mdanderson.org	37	chr9	130588924	130588924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggtgttgacccccggggGctcttggaaggtgaccaggc	5	9	17	10	1	1	2	0	2	1	0	1	3	1	3	3	6	0	2	3	6	1	2	rs199840979	byFrequency	TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr9:130588924G>A	ENST00000373203.4	-	4	788	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	ENG_ENST00000344849.3_Missense_Mutation_p.P130S|ENG_ENST00000480266.1_5'Flank	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	130	Required for interaction with EGL.			SSLVTFQEP -> FQPGHLPRA (in Ref. 5). {ECO:0000305}.	artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ACCCCCGGGGGCTCTTGGAAG	0.612									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																												p.P130S													.	.			0			c.C388T							G	SER/PRO,SER/PRO	0,4406		0,0,2203	53	53	53		388,388	-6.9	0	9		53	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ENG	NM_000118.2,NM_001114753.1	74,74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	130/626,130/659	130588924	1,13005	2203	4300	6503	SO:0001583	missense	2022	exon4	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	CCGGGGGCTCTTG	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.388C>T	9.37:g.130588924G>A	ENSP00000362299:p.Pro130Ser		49	0	0		39	0.1	4	NM_000118	167	0	0	Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258229	0.23051	0.0	1.16E-4	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345	T;T	0.40225	1.04;1.63	5.22	-6.95	0.01628	.	2.380880	0.01435	N	0.014878	T	0.21022	0.0506	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.26318	0.146;0.146	B;B	0.22152	0.038;0.038	T	0.09907	-1.0653	10	0.13108	T	0.6	-9.6829	2.7488	0.05274	0.4664:0.1996:0.2333:0.1006	.	130;130	Q5T9B9;P17813	.;EGLN_HUMAN	S	130	ENSP00000362299:P130S;ENSP00000341917:P130S	ENSP00000341917:P130S	P	-	1	0	ENG	129628745	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.682000	0.01935	-0.998000	0.03446	-0.258000	0.10820	CCC	0.002		0.612	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054313.1				A	130588924	G	A	130588924	3	1	126	1	0	0	0	0	1	0	0	0	5124	1203	42	2	1662	2	ENG	9	130588924	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	16456143	130588924	10624507	30	9384											
WAC	51322	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	28822948	28822948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgaccggaggggggaCtcgcagccttaccaggtacc	8	6	14	13	3	1	0	1	0	0	0	2	3	1	2	4	5	3	2	4	5	2	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr10:28822948C>G	ENST00000354911.4	+	2	224	c.63C>G	c.(61-63)gaC>gaG	p.D21E	WAC_ENST00000428935.1_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000347934.4_Missense_Mutation_p.D21E|WAC_ENST00000375664.4_5'UTR|WAC-AS1_ENST00000528337.1_RNA|WAC_ENST00000375646.1_5'UTR|WAC-AS1_ENST00000527986.1_RNA	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	21					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGAGGGGGGACTCGCAGCCTT	0.667																																					p.D21E													.	WAC	77		0			c.C63G												24	30	28					10																	28822948		2202	4297	6499	SO:0001583	missense	51322	exon2			GGGGGACTCGCAG	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.63C>G	10.37:g.28822948C>G	ENSP00000346986:p.Asp21Glu		152	0.0131578947	2		134	0.19	26	NM_100486	224	0.24	54	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723946	0.68959	.	.	ENSG00000095787	ENST00000347934;ENST00000354911	T;T	0.26957	1.73;1.7	4.87	4.87	0.63330	.	0.267742	0.41194	N	0.000932	T	0.37544	0.1007	L	0.27053	0.805	0.80722	D	1	D;B	0.61697	0.99;0.02	D;B	0.70935	0.971;0.029	T	0.09707	-1.0662	10	0.42905	T	0.14	-2.0981	16.3759	0.83392	0.0:1.0:0.0:0.0	.	21;21	Q9BTA9-5;Q9BTA9	.;WAC_HUMAN	E	21	ENSP00000311106:D21E;ENSP00000346986:D21E	ENSP00000311106:D21E	D	+	3	2	WAC	28862954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.098000	0.57748	2.528000	0.85240	0.655000	0.94253	GAC			0.667	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000047371.1		NM_100264		G	28822948	C	G	28822948	3	3	126	1	0	0	0	0	1	0	0	0	17271	564	20	5	69	5	WAC	10	28822948	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10		28822948	106711799	31	9385											
FZD8	8325	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr10	35930262	35930262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatctcttggcatgccagCtccttggccgaggcggccgc	4	9	14	14	3	1	1	0	1	1	0	3	2	2	1	4	4	2	2	4	4	0	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr10:35930262C>G	ENST00000374694.1	-	1	100	c.96G>C	c.(94-96)gaG>gaC	p.E32D	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	32	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						GGCATGCCAGCTCCTTGGCCG	0.627																																					p.E32D													.	.			0			c.G96C												93	74	81					10																	35930262		2203	4300	6503	SO:0001583	missense	8325	exon1			TGCCAGCTCCTTG	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.96G>C	10.37:g.35930262C>G	ENSP00000363826:p.Glu32Asp		51	0	0		41	0.27	11	NM_031866	42	0.64	27		Missense_Mutation	SNP	ENST00000374694.1	37	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564453	0.27915	.	.	ENSG00000177283	ENST00000374694	T	0.81078	-1.45	3.92	2.02	0.26589	Frizzled domain (3);	0.000000	0.64402	U	0.000003	T	0.56630	0.1998	N	0.05306	-0.075	0.41380	D	0.987541	P	0.36027	0.533	B	0.34536	0.185	T	0.47222	-0.9134	10	0.15499	T	0.54	.	9.7044	0.40207	0.0:0.8231:0.0:0.1769	.	32	Q9H461	FZD8_HUMAN	D	32	ENSP00000363826:E32D	ENSP00000363826:E32D	E	-	3	2	FZD8	35970268	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.244000	0.43124	0.267000	0.21916	0.462000	0.41574	GAG			0.627	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047575.2		NM_031866		G	35930262	C	G	35930262	3	3	126	1	0	0	0	0	1	0	0	0	6149	796	28	5	1992	5	FZD8	10	35930262	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	7107314	35930262	99604485	32	9386											
DGKZ	8525	mdanderson.org	37	chr11	46387955	46387955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcactggcacagcggcGccgctccagcgcccagctcc	5	5	10	21	4	1	0	1	0	0	0	4	0	4	0	5	2	3	3	5	2	0	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr11:46387955G>T	ENST00000454345.1	+	2	274	c.149G>T	c.(148-150)cGc>cTc	p.R50L	DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	50					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCACAGCGGCGCCGCTCCAGC	0.751																																					p.R50L													.	.			0			c.G149T												6	8	7					11																	46387955		1851	3895	5746	SO:0001583	missense	8525	exon2			AGCGGCGCCGCTC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.149G>T	11.37:g.46387955G>T	ENSP00000412178:p.Arg50Leu		22	0	0		22	0.09	2	NM_001105540	14	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415893	0.96092	.	.	ENSG00000149091	ENST00000454345	T	0.79749	-1.3	4.44	4.44	0.53790	.	1.379370	0.05662	N	0.587194	D	0.87257	0.6132	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80034	-0.1551	10	0.87932	D	0	.	17.4629	0.87624	0.0:0.0:1.0:0.0	.	50	Q13574	DGKZ_HUMAN	L	50	ENSP00000412178:R50L	ENSP00000412178:R50L	R	+	2	0	DGKZ	46344531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.026000	0.76455	2.186000	0.69663	0.563000	0.77884	CGC			0.751	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000389772.1		NM_001105540		T	46387955	G	T	46387955	3	4	126	1	0	0	0	0	1	0	0	0	4479	1087	38	1	595	1	DGKZ	11	46387955	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10		46387955	88618561	33	9387											
AMBRA1	55626	mdanderson.org	37	chr11	46419165	46419165	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagagggcagggttggctgGgttggctcccgcccaggggt	5	7	20	9	1	0	1	0	0	0	1	1	2	1	1	2	7	0	5	2	7	1	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr11:46419165G>T	ENST00000458649.2	-	18	4150	c.3732C>A	c.(3730-3732)acC>acA	p.T1244T	AMBRA1_ENST00000298834.3_Silent_p.T1184T|AMBRA1_ENST00000533727.1_Silent_p.T1125T|AMBRA1_ENST00000426438.1_Silent_p.T1215T|AMBRA1_ENST00000528950.1_Silent_p.T1215T|AMBRA1_ENST00000314845.3_Silent_p.T1154T|AMBRA1_ENST00000534300.1_Silent_p.T1184T			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1244					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)		GGGTTGGCTGGGTTGGCTCCC	0.657																																					p.T1247T													.	.			0			c.C3741A												59	62	61					11																	46419165		2202	4299	6501	SO:0001819	synonymous_variant	55626	exon20			TGGCTGGGTTGGC	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.3732C>A	11.37:g.46419165G>T			45	0	0		42	0.07	3	NM_001267782	93	0	0	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37																																																																																						0.657	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000390103.1		NM_017749		T	46419165	G	T	46419165	2	4	126	1	0	0	0	0	0	0	0	1	565	1219	43	3		3	AMBRA1	11	46419165	Silent	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	31210	46419165	88587351	34	9388											
SMTNL1	219537	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57309031	57309031	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcagaggccagggagaGtacggctccattcttcactc	9	8	11	13	1	3	2	2	0	1	2	5	3	4	2	2	3	2	3	2	3	1	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr11:57309031G>A	ENST00000399154.2	+	0	0				SMTNL1_ENST00000527972.1_5'Flank|SMTNL1_ENST00000457912.1_Splice_Site			A8MU46	SMTL1_HUMAN	smoothelin-like 1						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						GCCAGGGAGAGTACGGCTCCA	0.522																																					.													.	.			0			.												108	113	111					11																	57309031		1980	4157	6137	SO:0001631	upstream_gene_variant	219537	.			GGGAGAGTACGGC	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			11.37:g.57309031G>A	Exception_encountered		99	0	0		73	0.16	12	.	0		0		Splice_Site	SNP	ENST00000399154.2	37		.	.	.	.	.	.	.	.	.	.	G	5.704	0.314378	0.10789	.	.	ENSG00000214872	ENST00000457912	.	.	.	3.65	1.1	0.20463	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7432	0.13024	0.4695:0.0:0.5305:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMTNL1	57065607	0.000000	0.05858	0.015000	0.15790	0.060000	0.15804	-0.151000	0.10175	0.260000	0.21731	0.650000	0.86243	.			0.522	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				XM_166203		A	57309031	G	A	57309031	1	1	126	0	1	0	0	0	0	0	0	0	14838	1043	36	3		3	SMTNL1	11	57309031	5'Flank	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	10889866	57309031	77697485	35	9389											
VWCE	220001	mdanderson.org	37	chr11	61048319	61048319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgactccttgattcatgCatggctcccaggtgccagca	8	9	10	14	1	1	1	1	1	0	0	3	2	3	1	3	2	4	3	3	2	0	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr11:61048319C>T	ENST00000335613.5	-	8	1562	c.1176G>A	c.(1174-1176)atG>atA	p.M392I		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	392	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGATTCATGCATGGCTCCCA	0.662																																					p.M392I													.	.			0			c.G1176A												13	15	14					11																	61048319		2203	4296	6499	SO:0001583	missense	220001	exon8			TTCATGCATGGCT	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1176G>A	11.37:g.61048319C>T	ENSP00000334186:p.Met392Ile		46	0	0		33	0.09	3	NM_152718	13	0	0	A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	4.603	0.111991	0.08831	.	.	ENSG00000167992	ENST00000335613	T	0.70164	-0.46	5.65	1.14	0.20703	von Willebrand factor, type C (3);	1.337170	0.04805	N	0.434238	T	0.43942	0.1270	N	0.12637	0.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25676	-1.0125	10	0.35671	T	0.21	.	0.3031	0.00276	0.2432:0.3119:0.1686:0.2764	.	392	Q96DN2	VWCE_HUMAN	I	392	ENSP00000334186:M392I	ENSP00000334186:M392I	M	-	3	0	VWCE	60804895	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.301000	0.08232	0.235000	0.21160	-0.345000	0.07892	ATG			0.662	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398811.1		NM_152718		T	61048319	C	T	61048319	3	4	126	1	0	0	0	0	1	0	0	0	17269	710	25	2	1743	2	VWCE	11	61048319	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	3739288	61048319	73958197	36	9390											
RBM4	5936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	66411186	66411186	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctactacaagcgctgccgTgctgcccggtcctatgaggc	6	8	12	15	3	0	1	0	1	0	0	1	1	1	1	4	2	6	2	4	2	4	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr11:66411186T>A	ENST00000409406.1	+	2	1455	c.678T>A	c.(676-678)cgT>cgA	p.R226R	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Silent_p.R226R|RBM4_ENST00000514361.3_Silent_p.R201R|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.R201R|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_Silent_p.R226R|RBM4_ENST00000503028.2_Silent_p.R226R|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	226	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGCGCTGCCGTGCTGCCCGGT	0.557																																					p.R226R													.	.			0			c.T678A												57	62	60					11																	66411186		2090	4217	6307	SO:0001819	synonymous_variant	5936	exon3			CTGCCGTGCTGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.678T>A	11.37:g.66411186T>A			51	0	0		51	0.22	11	NM_002896	261	0.36	93	B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	CCDS41676.1																																																																																					0.557	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334212.1		NM_002896		A	66411186	T	A	66411186	2	1	126	1	0	0	0	0	0	0	0	1	13157	1683	59	5		5	RBM4	11	66411186	Silent	SNP	T	TCGA-XY-A89B-01A-11D-A435-10	5362867	66411186	68595330	37	9391											
KDM2A	22992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	67022423	67022423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgatcgaccttcgaggatGcaagcagatcactcgaaaag	13	8	10	10	3	1	2	1	1	0	1	4	6	1	3	1	1	2	2	1	1	3	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr11:67022423G>A	ENST00000529006.2	+	21	3832	c.3386G>A	c.(3385-3387)tGc>tAc	p.C1129Y	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.C690Y|KDM2A_ENST00000308783.5_Missense_Mutation_p.C587Y|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1129					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						CTTCGAGGATGCAAGCAGATC	0.498																																					p.C1129Y													.	.			0			c.G3386A												94	90	92					11																	67022423		2034	4201	6235	SO:0001583	missense	22992	exon21			GAGGATGCAAGCA	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.3386G>A	11.37:g.67022423G>A	ENSP00000432786:p.Cys1129Tyr		99	0	0		64	0.14	9	NM_012308	253	0.26	65	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665266	0.88251	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.22539	1.95;1.95;1.95	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.986	T	0.68819	-0.5308	10	0.87932	D	0	-15.1361	19.1899	0.93660	0.0:0.0:1.0:0.0	.	690;1129	E9PIL6;Q9Y2K7	.;KDM2A_HUMAN	Y	1129;690;587	ENSP00000432786:C1129Y;ENSP00000435776:C690Y;ENSP00000309302:C587Y	ENSP00000309302:C587Y	C	+	2	0	KDM2A	66778999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.591000	0.98241	2.760000	0.94817	0.655000	0.94253	TGC			0.498	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393140.2		NM_012308		A	67022423	G	A	67022423	3	1	126	1	0	0	0	0	1	0	0	0	8139	1319	46	2	3464	2	KDM2A	11	67022423	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	611237	67022423	67984093	38	9392											
APLP2	334	mdanderson.org	37	chr11	130013286	130013286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcgtcacctgaacaagatGcagaaccatggctatgagaa	15	6	11	9	1	1	4	1	2	0	3	1	6	1	4	2	1	4	2	2	1	5	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr11:130013286G>T	ENST00000263574.5	+	18	2307	c.2235G>T	c.(2233-2235)atG>atT	p.M745I	APLP2_ENST00000543137.1_Missense_Mutation_p.M640I|APLP2_ENST00000528499.1_Missense_Mutation_p.M677I|APLP2_ENST00000338167.5_Missense_Mutation_p.M733I|APLP2_ENST00000539648.1_Missense_Mutation_p.M533I|APLP2_ENST00000278756.7_Missense_Mutation_p.M743I|APLP2_ENST00000345598.5_Missense_Mutation_p.M504I	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	745					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGAACAAGATGCAGAACCATG	0.562																																					p.M745I													.	.			0			c.G2235T												157	134	142					11																	130013286		2201	4297	6498	SO:0001583	missense	334	exon18			CAAGATGCAGAAC	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.2235G>T	11.37:g.130013286G>T	ENSP00000263574:p.Met745Ile		54	0	0		36	0.08	3	NM_001642	940	0	0	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974917	0.92919	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.8	5.8	0.92144	Beta-amyloid precursor protein C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D	0.65815	0.962;0.991;0.987;0.989;0.995;0.992;0.982	D;D;D;D;D;D;D	0.77004	0.946;0.989;0.961;0.986;0.989;0.919;0.961	D	0.97762	1.0221	9	.	.	.	-32.2726	19.0512	0.93046	0.0:0.0:1.0:0.0	.	533;745;689;504;671;677;733	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	I	677;533;745;504;733;743;640	ENSP00000435914:M677I;ENSP00000443728:M533I;ENSP00000263574:M745I;ENSP00000263575:M504I;ENSP00000345444:M733I;ENSP00000278756:M743I;ENSP00000444122:M640I	.	M	+	3	0	APLP2	129518496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.340000	0.97038	2.735000	0.93741	0.655000	0.94253	ATG			0.562	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386109.1		NM_001642		T	130013286	G	T	130013286	3	4	126	1	0	0	0	0	1	0	0	0	779	1319	46	2	2305	2	APLP2	11	130013286	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	62990863	130013286	4993230	39	9393											
PRB3	5544	broad.mit.edu	37	chr12	11420721	11420721	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccggacgaggcgggggAccttgggactggtttcctcc	4	10	15	12	3	0	0	0	0	0	0	3	4	3	3	4	6	0	1	4	6	0	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr12:11420721A>G	ENST00000279573.7	-	3	597	c.462T>C	c.(460-462)ggT>ggC	p.G154G	PRB3_ENST00000381842.3_Silent_p.G154G|PRB3_ENST00000538488.1_Silent_p.G133G|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	154	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GAGGCGGGGGACCTTGGGACT	0.647																																					p.G154G													.	PRB3	84		0			c.T462C												11	10	10					12																	11420721		971	2410	3381	SO:0001819	synonymous_variant	5544	exon3			CGGGGGACCTTGG			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.462T>C	12.37:g.11420721A>G			136	0.1029411765	14		199	0.12	24	NM_006249	0		0	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.647	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000402119.5		NM_006249		G	11420721	A	G	11420721	2	3	126	1	0	0	0	0	0	0	0	1	12464	262	10	4		4	PRB3	12	11420721	Silent	SNP	A	TCGA-XY-A89B-01A-11D-A435-10		11420721	122431174	40	9394											
ITPR2	3709	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	26636703	26636703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttgaccagcgctacattCttctcattgatgtagagacc	9	13	9	10	1	2	3	1	2	2	1	3	4	2	3	2	1	2	3	2	1	2	6			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr12:26636703C>T	ENST00000381340.3	-	42	6356	c.5940G>A	c.(5938-5940)aaG>aaA	p.K1980K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1980					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)	GCGCTACATTCTTCTCATTGA	0.478																																					p.K1980K													ITPR2,NS,carcinoma,-1,1	ITPR2	-1	1	0			c.G5940A												162	157	158					12																	26636703		1891	4118	6009	SO:0001819	synonymous_variant	3709	exon42			TACATTCTTCTCA	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.5940G>A	12.37:g.26636703C>T			185	0.0054054054	1		253	0.11	27	NM_002223	38	0	0	O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																					0.478	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402732.1		NM_002223		T	26636703	C	T	26636703	2	4	126	1	0	0	0	0	0	0	0	1	7936	912	32	3		3	ITPR2	12	26636703	Silent	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	15215982	26636703	107215192	41	9395											
PLEKHA9	51054	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	45567287	45567287	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcagccacaagagggCttcagtcgctgagttcctaa	9	11	9	12	1	3	2	2	1	1	1	6	2	4	2	2	1	1	3	2	1	2	4			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr12:45567287C>T	ENST00000256692.5	-	0	1398					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACAAGAGGGCTTCAGTCGCT	0.448																																					.													PLEKHA8P1,NS,carcinoma,+2,1	PLEKHA8P1	2	1	0			.												80	80	80					12																	45567287		2203	4300	6503			51054	.			AGAGGGCTTCAGT	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567287C>T			105	0	0		117	0.08	9	.	46	0.13	6		RNA	SNP	ENST00000256692.5	37																																																																																						0.448	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000404814.1		NR_037144		T	45567287	C	T	45567287	1	4	126	0	1	0	0	0	0	0	0	0	12080	797	28	2		2	PLEKHA9	12	45567287	RNA	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	18930584	45567287	88284608	42	9396											
HOXC13	3229	mdanderson.org	37	chr12	54333053	54333053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcgccaccctgggctaCggctaccccttcgggggcag	5	6	13	17	3	0	0	0	0	0	0	2	0	1	0	5	4	3	3	5	4	2	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr12:54333053C>T	ENST00000243056.3	+	1	519	c.363C>T	c.(361-363)taC>taT	p.Y121Y	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	121					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|large_intestine(1)|skin(1)	3						CCCTGGGCTACGGCTACCCCT	0.711			T	NUP98	AML																																p.Y121Y				Dom	yes		12	12q13.3	3229	homeo box C13		L	.	.			0			c.C363T												3	5	4					12																	54333053		1776	3704	5480	SO:0001819	synonymous_variant	3229	exon1			GGGCTACGGCTAC		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.363C>T	12.37:g.54333053C>T			34	0	0		42	0.1	4	NM_017410	0		0	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Silent	SNP	ENST00000243056.3	37	CCDS8865.1																																																																																					0.711	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358865.2				T	54333053	C	T	54333053	2	4	126	1	0	0	0	0	0	0	0	1	7327	547	19	1		1	HOXC13	12	54333053	Silent	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	8765766	54333053	79518842	43	9397											
POLE	5426	mdanderson.org	37	chr12	133209345	133209345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagcactgcgcctcagcCcgtccttcatgcagtggtac	6	9	11	15	2	2	0	2	0	0	0	3	1	3	1	3	2	5	3	3	2	1	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr12:133209345C>A	ENST00000320574.5	-	44	6084	c.6041G>T	c.(6040-6042)gGg>gTg	p.G2014V	POLE_ENST00000535270.1_Missense_Mutation_p.G1987V|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2014					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)	GCGCCTCAGCCCGTCCTTCAT	0.672								DNA polymerases (catalytic subunits)																													p.G2014V													POLE_ENST00000320574,right_lower_lobe,carcinoma,+1,2	POLE_ENST00000320574	1	2	0			c.G6041T												40	40	40					12																	133209345		2203	4298	6501	SO:0001583	missense	5426	exon44			CTCAGCCCGTCCT		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.6041G>T	12.37:g.133209345C>A	ENSP00000322570:p.Gly2014Val		25	0	0		23	0.17	4	NM_006231	177	0	0	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366480	0.24771	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.44482	0.92;0.92;0.92	5.58	4.36	0.52297	.	0.172250	0.53938	D	0.000053	T	0.23094	0.0558	N	0.08118	0	0.50171	D	0.999857	B;B	0.17852	0.019;0.024	B;B	0.20184	0.01;0.028	T	0.03887	-1.0995	10	0.34782	T	0.22	.	9.9765	0.41786	0.0:0.0904:0.0:0.9096	.	2014;224	Q07864;B3KS74	DPOE1_HUMAN;.	V	224;2014;2025;1987	ENSP00000322570:G2014V;ENSP00000406383:G2025V;ENSP00000445753:G1987V	ENSP00000322570:G2014V	G	-	2	0	POLE	131719418	1.000000	0.71417	0.446000	0.26920	0.162000	0.22319	4.927000	0.63440	0.846000	0.35142	0.478000	0.44815	GGG			0.672	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397689.2		NM_006231		A	133209345	C	A	133209345	3	1	126	1	0	0	0	0	1	0	0	0	12213	623	22	3	843	3	POLE	12	133209345	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	78876292	133209345	642550	44	9398											
CMTM5	116173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	23847656	23847656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcacacttgccttcctcttCctctatgccacccagtacta	8	13	3	17	0	3	0	1	0	2	0	5	0	5	0	5	0	3	1	5	0	3	6	rs371218018		TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr14:23847656C>T	ENST00000339180.4	+	2	441	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CMTM5_ENST00000359320.3_Silent_p.F75F|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000382809.2_Silent_p.F75F|CMTM5_ENST00000342473.4_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	75	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCTTCCTCTTCCTCTATGCCA	0.582																																					p.F75F													.	.			0			c.C225T							C	,	1,4405	2.1+/-5.4	0,1,2202	251	210	224		225,225	5.9	1	14		224	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CMTM5	NM_001037288.1,NM_138460.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	75/126,75/157	23847656	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116173	exon2			CCTCTTCCTCTAT	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"chemokine-like factor super family 5", "chemokine-like factor superfamily 5"	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.225C>T	14.37:g.23847656C>T			135	0	0		144	0.18	26	NM_138460	0		0	E9PH91|Q5PY48	Silent	SNP	ENST00000339180.4	37																																																																																						0.582	CMTM5-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000133708.2				T	23847656	C	T	23847656	2	4	126	1	0	0	0	0	0	0	0	1	3588	854	30	3		3	CMTM5	14	23847656	Silent	SNP	C	TCGA-XY-A89B-01A-11D-A435-10		23847656	83501884	45	9399											
PSMA6	5687	broad.mit.edu	37	chr14	35782215	35782216	+	Frame_Shift_Ins	INS	-	-	A																															tgagtcaaccagcttccttgINSaaaaaaaagtgaagaagaaa																										TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr14:35782215_35782216insA	ENST00000261479.4	+	5	658_659	c.538_539insA	c.(538-540)gaafs	p.E180fs	PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.E180fs|PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.E186fs|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.E161fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.E101fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					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)		CAGCTTCCTTGAAAAAAAAGTG	0.406																																					p.E180fs													.	PSMA6	18		0			c.538_539insA																																									SO:0001589	frameshift_variant	5687	exon5			TTCCTTGAAAAAA	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.546dupA	14.37:g.35782223_35782223dupA	ENSP00000261479:p.Glu180fs		115	0	0		100	0.08	8	NM_002791	850	0	0	B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Frame_Shift_Ins	INS	ENST00000261479.4	37	CCDS9655.1																																																																																					0.406	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000276684.1				A	35782216	-	A	35782215	7	5	126	1	0	1	1	0	0	0	0	0	12691	1291	45	0	556	0	PSMA6	14	35782215	Frame_Shift_Ins	INS	-	TCGA-XY-A89B-01A-11D-A435-10	11934559	35782215	71567325	46	9400											
C14orf49	161176	mdanderson.org	37	chr14	95918708	95918708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctcctccgaggccagcgCcgcccgtgttgcctgcagca	4	6	14	17	4	0	0	0	0	0	0	2	1	2	0	6	2	4	4	6	2	0	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr14:95918708C>T	ENST00000334258.5	-	6	1164	c.1150G>A	c.(1150-1152)Gcg>Acg	p.A384T	SYNE3_ENST00000557275.1_Missense_Mutation_p.A384T|SYNE3_ENST00000553340.1_Missense_Mutation_p.A384T|SYNE3_ENST00000554873.1_Missense_Mutation_p.A141T	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	384					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						GAGGCCAGCGCCGCCCGTGTT	0.627											OREG0022900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A384T													.	.			0			c.G1150A												50	48	49					14																	95918708		2203	4299	6502	SO:0001583	missense	161176	exon6			CCAGCGCCGCCCG	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.1150G>A	14.37:g.95918708C>T	ENSP00000334308:p.Ala384Thr		20	0	0	1316	18	0.11	2	NM_152592	1	0	0	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840413	0.32513	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.34472	3.49;1.36;3.49;2.88	4.68	2.86	0.33363	.	0.172136	0.27792	N	0.017823	T	0.36826	0.0981	M	0.73598	2.24	0.09310	N	0.99999	B;B;B	0.25235	0.121;0.121;0.074	B;B;B	0.22601	0.04;0.032;0.018	T	0.27157	-1.0082	10	0.40728	T	0.16	-8.9898	10.7232	0.46052	0.0:0.8418:0.0:0.1582	.	384;384;384	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	T	384;141;384;384	ENSP00000334308:A384T;ENSP00000452154:A141T;ENSP00000450562:A384T;ENSP00000450774:A384T	ENSP00000334308:A384T	A	-	1	0	C14orf49	94988461	0.156000	0.22821	0.012000	0.15200	0.041000	0.13682	0.711000	0.25764	0.525000	0.28522	0.462000	0.41574	GCG			0.627	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000420529.2		NM_152592		T	95918708	C	T	95918708	3	4	126	1	0	0	0	0	1	0	0	0	1778	739	26	2	1825	2	C14orf49	14	95918708	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	60136493	95918708	11430832	47	9401											
CHRM5	1133	broad.mit.edu	37	chr15	34355354	34355354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggccaagcgtactccgaaaAgggctggcatcatgattggc	10	7	14	10	2	1	1	1	1	0	0	2	2	2	1	2	4	2	3	2	4	4	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr15:34355354A>G	ENST00000383263.5	+	3	1106	c.436A>G	c.(436-438)Agg>Ggg	p.R146G	CHRM5_ENST00000557872.1_Missense_Mutation_p.R146G	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	146					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)	TACTCCGAAAAGGGCTGGCAT	0.537																																					p.R146G													.	CHRM5	59		0			c.A436G												98	95	96					15																	34355354		2201	4298	6499	SO:0001583	missense	0	exon3			CCGAAAAGGGCTG		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.436A>G	15.37:g.34355354A>G	ENSP00000372750:p.Arg146Gly		95	0	0		111	0.03	3	NM_012125	0		0	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760817	0.49468	.	.	ENSG00000184984	ENST00000383263	T	0.41065	1.01	5.54	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.049404	0.85682	D	0.000000	T	0.69504	0.3118	M	0.91354	3.2	0.53005	D	0.999963	D	0.89917	1.0	D	0.78314	0.991	T	0.77763	-0.2466	10	0.87932	D	0	-23.3578	13.4832	0.61348	0.7438:0.2562:0.0:0.0	.	146	P08912	ACM5_HUMAN	G	146	ENSP00000372750:R146G	ENSP00000372750:R146G	R	+	1	2	CHRM5	32142646	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.311000	0.43717	1.090000	0.41315	0.528000	0.53228	AGG			0.537	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251521.2				G	34355354	A	G	34355354	3	3	126	1	0	0	0	0	1	0	0	0	3382	63	3	4	438	4	CHRM5	15	34355354	Missense_Mutation	SNP	A	TCGA-XY-A89B-01A-11D-A435-10		34355354	68176038	48	9402											
RORA	6095	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	60849111	60849111	+	Intron	SNP	T	T	A																															gtgaatatggtggcttgccaTtctgcctccaggaacacttg																										TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr15:60849111T>A	ENST00000335670.6	-	3	297				RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Intron|RORA_ENST00000309157.4_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.N79I	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|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)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGCTTGCCATTCTGCCTCCA	0.398																																					p.N79I													.	.			0			c.A236T												310	267	282					15																	60849111		2203	4300	6503	SO:0001627	intron_variant	6095	exon3			TTGCCATTCTGCC	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.197-25061A>T	15.37:g.60849111T>A			150	0	0		176	0.1	17	NM_134260	0		0	P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436599	0.25813	.	.	ENSG00000069667	ENST00000261523	D	0.94232	-3.38	4.74	0.914	0.19360	.	0.995540	0.08138	N	0.991981	D	0.82944	0.5147	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71748	-0.4499	10	0.49607	T	0.09	.	3.0157	0.06059	0.1788:0.1964:0.0:0.6248	.	79	P35398	RORA_HUMAN	I	79	ENSP00000261523:N79I	ENSP00000261523:N79I	N	-	2	0	RORA	58636403	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.260000	0.08708	0.401000	0.25424	0.533000	0.62120	AAT			0.398	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256142.2				A	60849111	T	A	60849111	1	1	126	0	1	0	0	0	0	0	0	0	13551	1493	52	5		5	RORA	15	60849111	Intron	SNP	T	TCGA-XY-A89B-01A-11D-A435-10	26493757	60849111	41682281	49	9403	17	2									
RORA	6095	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	60849113	60849113	+	Intron	SNP	C	C	T																															gaatatggtggcttgccattCtgcctccaggaacacttgtt																										TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr15:60849113C>T	ENST00000335670.6	-	3	297				RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Intron|RORA_ENST00000309157.4_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Silent_p.Q78Q	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|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)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCTTGCCATTCTGCCTCCAGG	0.408																																					p.Q78Q													.	.			0			c.G234A												308	266	280					15																	60849113		2203	4300	6503	SO:0001627	intron_variant	6095	exon3			GCCATTCTGCCTC	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.197-25063G>A	15.37:g.60849113C>T			151	0	0		178	0.1	18	NM_134260	0		0	P35397|P35399|P45445|Q495X4|Q96H83	Silent	SNP	ENST00000335670.6	37	CCDS10177.1																																																																																					0.408	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256142.2				T	60849113	C	T	60849113	1	4	126	0	1	0	0	0	0	0	0	0	13551	912	32	3		3	RORA	15	60849113	Intron	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	2	60849113	41682279	50	9404	17	2									
IL27	55911	broad.mit.edu	37	chr16	28511197	28511197	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcctcctcctcctcTtcctcctcctcctcctccgg	0	14	2	25	1	1	0	0	0	1	0	13	0	13	0	12	1	0	0	12	1	0	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr16:28511197T>C	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.E169E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						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						cctcctcctcttcctcctcct	0.672																																					p.E169E													.	IL27	27		0			c.A507G												8	9	9					16																	28511197		2149	4215	6364	SO:0001628	intergenic_variant	246778	exon5			CTCCTCTTCCTCC	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			16.37:g.28511197T>C			42	0.0238095238	1		35	0.09	3	NM_145659	4	0	0	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																						0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_182804		C	28511197	T	C	28511197	1	2	126	0	1	0	0	0	0	0	0	0	7695	1606	56	4		4	IL27	16	28511197	IGR	SNP	T	TCGA-XY-A89B-01A-11D-A435-10		28511197	61843556	51	9405											
SETD6	79918	mdanderson.org	37	chr16	58549762	58549762	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagctggtgccggcgggTggggctggagctgagtccca	4	7	19	11	2	0	2	0	2	0	0	1	3	1	3	3	6	3	3	3	6	0	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr16:58549762T>G	ENST00000219315.4	+	2	145	c.95T>G	c.(94-96)gTg>gGg	p.V32G	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000394266.4_Missense_Mutation_p.V32G|SETD6_ENST00000310682.2_Missense_Mutation_p.V32G			Q8TBK2	SETD6_HUMAN	SET domain containing 6	32					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						TGCCGGCGGGTGGGGCTGGAG	0.741																																					p.V32G													.	.			0			c.T95G												6	7	7					16																	58549762		2098	4157	6255	SO:0001583	missense	79918	exon2			GGCGGGTGGGGCT	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.95T>G	16.37:g.58549762T>G	ENSP00000219315:p.Val32Gly		10	0.1	1		13	0.31	4	NM_024860	22	0.05	1	A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013612	0.35511	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315;ENST00000447443;ENST00000458571	T;T;T;T	0.60040	2.58;2.58;2.58;0.22	4.73	4.73	0.59995	.	0.065202	0.64402	D	0.000012	T	0.46795	0.1411	M	0.63843	1.955	0.80722	D	1	D;P;P	0.54207	0.965;0.728;0.943	B;B;B	0.37601	0.146;0.084;0.254	T	0.45906	-0.9229	10	0.23302	T	0.38	-2.4553	8.5488	0.33438	0.0:0.091:0.0:0.909	.	32;32;32	E9PC53;Q8TBK2;Q8TBK2-2	.;SETD6_HUMAN;.	G	32	ENSP00000310082:V32G;ENSP00000377809:V32G;ENSP00000219315:V32G;ENSP00000396437:V32G	ENSP00000219315:V32G	V	+	2	0	SETD6	57107263	0.997000	0.39634	0.987000	0.45799	0.441000	0.31987	2.406000	0.44557	1.974000	0.57490	0.454000	0.30748	GTG			0.741	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000317274.2		NM_024860		G	58549762	T	G	58549762	3	3	126	1	0	0	0	0	1	0	0	0	14158	1696	59	4	101	4	SETD6	16	58549762	Missense_Mutation	SNP	T	TCGA-XY-A89B-01A-11D-A435-10	30038565	58549762	31804991	52	9406											
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	7574027	7574027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcgaagcgctcacgccCacggatctgcagcaacagag	11	5	10	15	4	3	1	1	0	2	1	4	3	3	2	1	1	4	3	1	1	2	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr17:7574027C>A	ENST00000269305.4	-	10	1189	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G334W|TP53_ENST00000420246.2_3'UTR|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	334	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (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.0?(8)|p.I332fs*5(1)|p.G334W(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)	CGCTCACGCCCACGGATCTGC	0.522		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)																											p.G334W	Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000269305,NS,carcinoma,0,16	TP53_ENST00000269305	0	16	11	Whole gene deletion(8)|Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|lung(1)	c.G1000T												50	40	43					17																	7574027		2203	4300	6503	SO:0001583	missense	7157	exon10	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;	CACGCCCACGGAT	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.1000G>T	17.37:g.7574027C>A	ENSP00000269305:p.Gly334Trp		106	0	0		76	0.13	10	NM_000546	124	0.28	35	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494483	0.64186	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.99910	-7.91;-7.91	5.43	5.43	0.79202	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95984	0.8980	10	0.87932	D	0	-30.4955	16.7337	0.85442	0.0:1.0:0.0:0.0	.	334	P04637	P53_HUMAN	W	334;334;323	ENSP00000269305:G334W;ENSP00000391478:G334W	ENSP00000269305:G334W	G	-	1	0	TP53	7514752	1.000000	0.71417	0.970000	0.41538	0.222000	0.24845	6.452000	0.73485	2.549000	0.85964	0.561000	0.74099	GGG			0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367397.1		NM_000546		A	7574027	C	A	7574027	3	1	126	1	0	0	0	0	1	0	0	0	16405	594	21	3	189	3	TP53	17	7574027	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10		7574027	73621183	53	9407											
EFNB3	1949	mdanderson.org	37	chr17	7612495	7612495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgccaggtgaccccacCagcaatgcaacctcccgggg	8	5	10	18	1	0	1	0	1	0	0	2	1	2	1	7	3	4	2	7	3	2	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr17:7612495C>T	ENST00000226091.2	+	5	1021	c.624C>T	c.(622-624)acC>acT	p.T208T		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	208					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)				GTGACCCCACCAGCAATGCAA	0.697																																					p.T208T													.	.			0			c.C624T												39	41	40					17																	7612495		1942	4101	6043	SO:0001819	synonymous_variant	1949	exon5			CCCCACCAGCAAT	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.624C>T	17.37:g.7612495C>T			18	0	0		16	0.13	2	NM_001406	19	0.42	8	B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Silent	SNP	ENST00000226091.2	37	CCDS11120.1																																																																																					0.697	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226965.1		NM_001406		T	7612495	C	T	7612495	2	4	126	1	0	0	0	0	0	0	0	1	4962	581	21	3		3	EFNB3	17	7612495	Silent	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	38468	7612495	73582715	54	9408											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		193	0.0414507772	8		188	0.06	12	NM_145301	37	0.7	26	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	126	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	7844592	15457087	65738123	55	9409											
PSMD11	5717	broad.mit.edu	37	chr17	30771555	30771555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaagatggcggcggcggCggtggtggagttccagagag	7	6	21	7	5	0	2	0	0	0	2	1	4	1	3	1	8	0	2	1	8	1	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr17:30771555C>T	ENST00000261712.3	+	1	277	c.14C>T	c.(13-15)gCg>gTg	p.A5V	PSMD11_ENST00000457654.2_Missense_Mutation_p.A5V	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.701																																					p.A5V	Ovarian(130;1038 1716 9294 11987 19279)												.	PSMD11	41		0			c.C14T												18	18	18					17																	30771555		2186	4270	6456	SO:0001583	missense	5717	exon1			CGGCGGCGGTGGT	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.14C>T	17.37:g.30771555C>T	ENSP00000261712:p.Ala5Val		133	0	0		160	0.03	5	NM_002815	116	0	0	A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999150	0.74818	.	.	ENSG00000108671	ENST00000261712	.	.	.	5.25	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.08118	0	0.53688	D	0.999975	P;B	0.37038	0.579;0.212	B;B	0.33392	0.163;0.049	T	0.08086	-1.0739	9	0.27785	T	0.31	-19.5166	11.4424	0.50105	0.0:0.9133:0.0:0.0867	.	5;5	B4DTS5;O00231	.;PSD11_HUMAN	V	5	.	ENSP00000261712:A5V	A	+	2	0	PSMD11	27795668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.945000	0.75947	1.455000	0.47813	0.558000	0.71614	GCG			0.701	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256252.2		NM_002815		T	30771555	C	T	30771555	3	4	126	1	0	0	0	0	1	0	0	0	12714	768	27	1	16	1	PSMD11	17	30771555	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	15314468	30771555	50423655	56	9410											
ERBB2	2064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	37879626	37879626	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctgctggtcgtggtcttGggggtggtctttgggatcct	2	16	16	7	1	3	0	0	0	3	0	5	1	4	1	1	6	1	1	1	6	0	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr17:37879626G>C	ENST00000269571.5	+	17	2160	c.2001G>C	c.(1999-2001)ttG>ttC	p.L667F	ERBB2_ENST00000584450.1_Missense_Mutation_p.L667F|ERBB2_ENST00000445658.2_Missense_Mutation_p.L391F|ERBB2_ENST00000584601.1_Missense_Mutation_p.L637F|ERBB2_ENST00000541774.1_Missense_Mutation_p.L652F|ERBB2_ENST00000406381.2_Missense_Mutation_p.L637F|ERBB2_ENST00000540147.1_Missense_Mutation_p.L637F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	667					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)	TCGTGGTCTTGGGGGTGGTCT	0.607		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																											p.L667F				Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	.	.			0			c.G2001C												129	117	121					17																	37879626		2203	4300	6503	SO:0001583	missense	2064	exon17			GGTCTTGGGGGTG	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.2001G>C	17.37:g.37879626G>C	ENSP00000269571:p.Leu667Phe		109	0	0		84	0.2	17	NM_004448	49	0.37	18	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	7.985	0.752076	0.15778	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.80123	-1.33;-1.34;-1.31;-1.34;-1.33	4.97	0.106	0.14540	Cytochrome c1, transmembrane anchor, C-terminal (1);	.	.	.	.	T	0.70168	0.3193	L	0.60455	1.87	0.53688	D	0.999973	P;P;P	0.36465	0.554;0.501;0.554	B;B;B	0.38562	0.197;0.276;0.183	T	0.62469	-0.6848	9	0.30854	T	0.27	.	0.0894	0.00038	0.2682:0.2463:0.2121:0.2734	.	391;652;667	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	F	637;652;391;667;637	ENSP00000385185:L637F;ENSP00000446466:L652F;ENSP00000404047:L391F;ENSP00000269571:L667F;ENSP00000443562:L637F	ENSP00000269571:L667F	L	+	3	2	ERBB2	35133152	0.005000	0.15991	0.177000	0.23020	0.447000	0.32167	0.028000	0.13644	0.486000	0.27676	0.561000	0.74099	TTG			0.607	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445621.2				C	37879626	G	C	37879626	3	2	126	1	0	0	0	0	1	0	0	0	5213	1339	47	5	2067	5	ERBB2	17	37879626	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	7108071	37879626	43315584	57	9411											
KRT9	3857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39727976	39727976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctctggaaccacccccaAagccaccgcctaaactactg	13	5	5	18	1	1	0	0	0	1	0	1	1	1	1	7	1	5	0	7	1	6	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr17:39727976A>G	ENST00000246662.4	-	1	334	c.269T>C	c.(268-270)tTt>tCt	p.F90S	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	90	Head.				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)				accacccccaaagccaccgcc	0.572																																					p.F90S													.	.			0			c.T269C												127	132	130					17																	39727976		2203	4300	6503	SO:0001583	missense	3857	exon1			CCCCCAAAGCCAC		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.269T>C	17.37:g.39727976A>G	ENSP00000246662:p.Phe90Ser		145	0	0		136	0.15	21	NM_000226	0		0	O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115071	0.37339	.	.	ENSG00000171403	ENST00000246662	D	0.91124	-2.79	4.6	-1.7	0.08159	.	0.531595	0.14239	N	0.332225	T	0.80954	0.4723	L	0.45352	1.415	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63849	-0.6544	10	0.27082	T	0.32	.	0.9139	0.01300	0.2337:0.1153:0.1982:0.4529	.	90	P35527	K1C9_HUMAN	S	90	ENSP00000246662:F90S	ENSP00000246662:F90S	F	-	2	0	KRT9	36981502	0.000000	0.05858	0.001000	0.08648	0.077000	0.17291	-0.362000	0.07602	-0.062000	0.13088	0.477000	0.44152	TTT			0.572	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257707.1		NM_000226		G	39727976	A	G	39727976	3	3	126	1	0	0	0	0	1	0	0	0	8516	14	1	4	1630	4	KRT9	17	39727976	Missense_Mutation	SNP	A	TCGA-XY-A89B-01A-11D-A435-10	1848350	39727976	41467234	58	9412											
C17orf90	339229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	79632527	79632527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgcgcccatcaggggCttgcgctccgggatggtgcc	3	11	14	13	3	2	0	1	0	1	0	3	1	3	1	3	4	3	2	3	4	0	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr17:79632527C>T	ENST00000374741.3	-	2	158	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	OXLD1_ENST00000573786.1_5'UTR|PDE6G_ENST00000574777.1_5'Flank|CCDC137_ENST00000329214.8_5'Flank|OXLD1_ENST00000571503.1_3'UTR|PDE6G_ENST00000571224.1_5'Flank	NM_001039842.1	NP_001034931.1	Q5BKU9	OXLD1_HUMAN	oxidoreductase-like domain containing 1	50						mitochondrion (GO:0005739)											CCATCAGGGGCTTGCGCTCCG	0.652																																					p.A50T													.	.			0			c.G148A												32	34	33					17																	79632527		2203	4298	6501	SO:0001583	missense	339229	exon2			CAGGGGCTTGCGC		CCDS32766.1	17q25.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000204237	ENSG00000204237			27901	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 90"	C17orf90			Standard	NM_001039842		Approved	MGC104712	uc002kba.3	Q5BKU9	OTTHUMG00000178063	ENST00000374741.3:c.148G>A	17.37:g.79632527C>T	ENSP00000363873:p.Ala50Thr		59	0	0		60	0.15	9	NM_001039842	86	0.1	9	A6ND24	Missense_Mutation	SNP	ENST00000374741.3	37	CCDS32766.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866621	0.32977	.	.	ENSG00000204237	ENST00000374741	.	.	.	3.48	2.51	0.30379	.	0.726127	0.11371	N	0.570890	T	0.20292	0.0488	N	0.19112	0.55	0.30363	N	0.783584	P	0.37781	0.608	B	0.32465	0.146	T	0.10405	-1.0631	9	0.25106	T	0.35	-0.4776	8.9408	0.35729	0.0:0.889:0.0:0.111	.	50	Q5BKU9	CQ090_HUMAN	T	50	.	ENSP00000363873:A50T	A	-	1	0	C17orf90	77242932	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.140000	0.10342	1.036000	0.39998	0.655000	0.94253	GCC			0.652	OXLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440380.1		NM_001039842		T	79632527	C	T	79632527	3	4	126	1	0	0	0	0	1	0	0	0	1893	797	28	2	299	2	C17orf90	17	79632527	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	39904551	79632527	1562683	59	9413											
BSG	682	mdanderson.org	37	chr19	577976	577976	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaccaccagcacgcggcCagcaccatctccatcgacac	11	4	6	20	3	1	0	0	0	1	0	3	1	1	0	6	1	3	2	6	1	1	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:577976C>A	ENST00000333511.3	+	2	340	c.270C>A	c.(268-270)gcC>gcA	p.A90A	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)	90					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)		AGCACGCGGCCAGCACCATCT	0.687																																					p.A90A													.	.			0			c.C270A												36	33	34					19																	577976		2199	4298	6497	SO:0001819	synonymous_variant	682	exon2			CGCGGCCAGCACC	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.270C>A	19.37:g.577976C>A			62	0	0		41	0.07	3	NM_001728	8	0	0	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	ENST00000333511.3	37	CCDS12033.1																																																																																					0.687	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438630.2		NM_001728		A	577976	C	A	577976	2	1	126	1	0	0	0	0	0	0	0	1	1531	581	21	3		3	BSG	19	577976	Silent	SNP	C	TCGA-XY-A89B-01A-11D-A435-10		577976	58551007	60	9414											
EMR1	2015	mdanderson.org	37	chr19	6937381	6937381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatcatcaacagcctgcagGgggccttcatcttcctcatc	8	10	7	16	0	5	0	4	0	1	0	7	0	6	0	4	2	3	1	4	2	1	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:6937381G>T	ENST00000312053.4	+	19	2546	c.2509G>T	c.(2509-2511)Ggg>Tgg	p.G837W	EMR1_ENST00000381407.5_Missense_Mutation_p.G696W|EMR1_ENST00000450315.3_Missense_Mutation_p.G660W|EMR1_ENST00000250572.8_Missense_Mutation_p.G772W|EMR1_ENST00000381404.4_Missense_Mutation_p.G818W	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	837					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGCCTGCAGGGGGCCTTCAT	0.602																																					p.G837W													.	.			0			c.G2509T												127	112	117					19																	6937381		2203	4300	6503	SO:0001583	missense	2015	exon19			CTGCAGGGGGCCT	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2509G>T	19.37:g.6937381G>T	ENSP00000311545:p.Gly837Trp		70	0	0		55	0.05	3	NM_001974	19	0	0	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.113936	0.77210	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	4.83	4.83	0.62350	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	.	.	.	.	D	0.95130	0.8422	H	0.97635	4.045	0.49483	D	0.99979	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;1.0;1.0;0.999;1.0	D	0.96854	0.9627	9	0.87932	D	0	.	15.4845	0.75555	0.0:0.0:1.0:0.0	.	660;696;772;818;837	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	W	772;837;818;772;696;660	ENSP00000311545:G837W;ENSP00000370811:G818W;ENSP00000250572:G772W;ENSP00000370814:G696W;ENSP00000405974:G660W	ENSP00000250572:G772W	G	+	1	0	EMR1	6888381	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	7.476000	0.81055	2.249000	0.74217	0.632000	0.83419	GGG			0.602	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458485.1				T	6937381	G	T	6937381	3	4	126	1	0	0	0	0	1	0	0	0	5111	1232	43	3	2583	3	EMR1	19	6937381	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	6359405	6937381	52191602	61	9415											
PEX11G	92960	mdanderson.org	37	chr19	7542209	7542209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcggccggcccacagcacgCcccggggcagccagtgcacg	7	1	15	18	5	0	0	0	0	0	0	0	0	0	0	5	4	4	3	5	4	0	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:7542209C>T	ENST00000221480.1	-	5	613	c.605G>A	c.(604-606)gGc>gAc	p.G202D	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000593942.1_Missense_Mutation_p.G132D	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	202					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CCACAGCACGCCCCGGGGCAG	0.711																																					p.G202D													.	.			0			c.G605A												8	9	9					19																	7542209		2104	4150	6254	SO:0001583	missense	92960	exon5			AGCACGCCCCGGG	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.605G>A	19.37:g.7542209C>T	ENSP00000221480:p.Gly202Asp		23	0	0		28	0.11	3	NM_080662	6	0	0	Q8NDM0	Missense_Mutation	SNP	ENST00000221480.1	37	CCDS12178.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843426	0.91197	.	.	ENSG00000104883	ENST00000221480	T	0.51574	0.7	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70124	-0.4958	10	0.18276	T	0.48	-28.8537	16.2364	0.82377	0.0:1.0:0.0:0.0	.	202	Q96HA9	PX11C_HUMAN	D	202	ENSP00000221480:G202D	ENSP00000221480:G202D	G	-	2	0	PEX11G	7448209	1.000000	0.71417	0.092000	0.20876	0.979000	0.70002	7.052000	0.76634	2.405000	0.81733	0.563000	0.77884	GGC			0.711	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458965.1		NM_080662		T	7542209	C	T	7542209	3	4	126	1	0	0	0	0	1	0	0	0	11756	739	26	2	124	2	PEX11G	19	7542209	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	604828	7542209	51586774	62	9416											
KIAA1543	57662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	7675802	7675802	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggcctccccacctcagaAcaacagcggcagtaggtacg	11	5	11	14	2	1	2	1	1	0	1	2	2	2	2	4	3	4	3	4	3	4	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:7675802A>T	ENST00000160298.4	+	8	1135	c.1034A>T	c.(1033-1035)aAc>aTc	p.N345I	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.N372I	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	345					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCACCTCAGAACAACAGCGGC	0.677																																					p.N372I													.	.			0			c.A1115T												56	63	60					19																	7675802		2029	4181	6210	SO:0001583	missense	57662	exon10			CTCAGAACAACAG	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1034A>T	19.37:g.7675802A>T	ENSP00000160298:p.Asn345Ile		85	0	0		57	0.21	12	NM_001080429	23	0.65	15	Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	a	7.633	0.679350	0.14907	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14516	2.5;2.52	4.81	3.72	0.42706	.	0.942056	0.08947	N	0.870708	T	0.13243	0.0321	N	0.19112	0.55	0.34840	D	0.740556	P;D	0.59357	0.738;0.985	B;P	0.52217	0.149;0.693	T	0.24333	-1.0163	10	0.37606	T	0.19	-35.9202	4.2293	0.10596	0.8127:0.0:0.1873:0.0	.	345;372	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	I	372;345	ENSP00000416797:N372I;ENSP00000160298:N345I	ENSP00000160298:N345I	N	+	2	0	KIAA1543	7581802	0.651000	0.27340	0.956000	0.39512	0.056000	0.15407	0.853000	0.27777	1.806000	0.52798	0.523000	0.50628	AAC			0.677	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459300.1		XM_048362		T	7675802	A	T	7675802	3	4	126	1	0	0	0	0	1	0	0	0	8258	43	2	5	1153	5	KIAA1543	19	7675802	Missense_Mutation	SNP	A	TCGA-XY-A89B-01A-11D-A435-10	133593	7675802	51453181	63	9417											
FBN3	84467	mdanderson.org	37	chr19	8145898	8145898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactcaccgaagcaggccTggtggtgctgggtgaagccg	7	7	16	11	2	2	1	2	1	0	0	2	2	2	1	3	4	3	2	3	4	2	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:8145898T>C	ENST00000600128.1	-	59	7856	c.7442A>G	c.(7441-7443)cAg>cGg	p.Q2481R	FBN3_ENST00000270509.2_Missense_Mutation_p.Q2481R|FBN3_ENST00000601739.1_Missense_Mutation_p.Q2481R			Q75N90	FBN3_HUMAN	fibrillin 3	2481	EGF-like 40; 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						GAAGCAGGCCTGGTGGTGCTG	0.587																																					p.Q2481R													.	.			0			c.A7442G												58	52	54					19																	8145898		2203	4300	6503	SO:0001583	missense	84467	exon58			CAGGCCTGGTGGT		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.7442A>G	19.37:g.8145898T>C	ENSP00000470498:p.Gln2481Arg		25	0	0		17	0.12	2	NM_032447	35	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139616	0.37728	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.91996	-2.95	3.91	2.77	0.32553	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.508863	0.19221	U	0.119667	T	0.79862	0.4519	N	0.01091	-1.02	0.22754	N	0.99877	B;P	0.43826	0.197;0.818	B;P	0.47864	0.111;0.559	T	0.72962	-0.4132	10	0.20046	T	0.44	.	10.1969	0.43060	0.0:0.0:0.3385:0.6615	.	2481;587	Q75N90;Q6ZNB8	FBN3_HUMAN;.	R	2481;587	ENSP00000270509:Q2481R	ENSP00000270509:Q2481R	Q	-	2	0	FBN3	8051898	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	5.420000	0.66441	1.540000	0.49301	0.247000	0.18012	CAG			0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461428.2		NM_032447		C	8145898	T	C	8145898	3	2	126	1	0	0	0	0	1	0	0	0	5717	1580	55	4	1011	4	FBN3	19	8145898	Missense_Mutation	SNP	T	TCGA-XY-A89B-01A-11D-A435-10	470096	8145898	50983085	64	9418											
PRKCSH	5589	hgsc.bcm.edu	37	chr19	11558370	11558370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgaagaagaggctgaagaaga	17	1	22	1	0	0	5	0	1	0	4	0	13	0	12	0	8	0	1	0	8	4	0	rs77563879		TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				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)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E													PRKCSH,caecum,carcinoma,0,1	PRKCSH	0	1	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A												27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		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.966G>A	19.37:g.11558370G>A			77	0.012987013	1		55	0.05	3	NM_001001329	127	0	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																					0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000458817.1				A	11558370	G	A	11558370	2	1	126	1	0	0	0	0	0	0	0	1	12536	991	35	3		3	PRKCSH	19	11558370	Silent	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	3412472	11558370	47570613	65	9419											
MRI1	84245	broad.mit.edu;mdanderson.org	37	chr19	13879552	13879552	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcccataggggcgtgtcagGtaagcagacggtaagccctg	9	6	16	10	2	1	1	1	0	0	1	1	1	1	1	2	5	2	3	2	5	3	3	rs147924371		TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:13879552G>A	ENST00000040663.6	+	4	764		c.e4+1		MRI1_ENST00000319545.8_Splice_Site	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGCGTGTCAGGTAAGCAGACG	0.647																																					.													.	MRI1	35		0			c.724+1G>A							G	,	1,4405	2.1+/-5.4	0,1,2202	28	29	29		,	5	1	19	dbSNP_134	29	0,8600		0,0,4300	no	splice-5,splice-5	MRI1	NM_001031727.2,NM_032285.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,	13879552	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	84245	exon4			TGTCAGGTAAGCA		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"mediator of RhoA-dependent invasion", "S-methyl-5-thioribose-1-phosphate isomerase 1"	615105	"methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.724+1G>A	19.37:g.13879552G>A			42	0	0		38	0.13	5	NM_001031727	14	1	14		Splice_Site	SNP	ENST00000040663.6	37	CCDS32923.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081994	0.36758	2.27E-4	0.0	ENSG00000037757	ENST00000040663;ENST00000319545	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5256	0.84330	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRI1	13740552	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	8.826000	0.92034	2.688000	0.91661	0.491000	0.48974	.			0.647	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453424.1		NM_032285	Intron	A	13879552	G	A	13879552	5	1	126	1	0	0	0	0	0	0	1	0	9786	1275	44	3	832	3	MRI1	19	13879552	Splice_Site	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	2321182	13879552	45249431	66	9420											
SLC25A42	284439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	19218819	19218819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctacgctggcctgagctTcttcacctatgagacgctca	7	11	8	15	2	3	2	2	2	1	1	4	3	4	2	3	1	2	3	3	1	2	4			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:19218819T>C	ENST00000318596.7	+	7	765	c.614T>C	c.(613-615)tTc>tCc	p.F205S		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	205					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCCTGAGCTTCTTCACCTAT	0.562																																					p.F205S													.	.			0			c.T614C												86	74	78					19																	19218819		2203	4300	6503	SO:0001583	missense	284439	exon7			TGAGCTTCTTCAC		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.614T>C	19.37:g.19218819T>C	ENSP00000326693:p.Phe205Ser		76	0	0		71	0.18	13	NM_178526	27	0.22	6	D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236064	0.58886	.	.	ENSG00000181035	ENST00000318596	D	0.85013	-1.93	5.39	5.39	0.77823	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96484	0.9358	10	0.87932	D	0	-13.6951	14.5846	0.68315	0.0:0.0:0.0:1.0	.	205	Q86VD7	S2542_HUMAN	S	205	ENSP00000326693:F205S	ENSP00000326693:F205S	F	+	2	0	SLC25A42	19079819	1.000000	0.71417	0.967000	0.41034	0.002000	0.02628	6.724000	0.74747	2.037000	0.60232	0.459000	0.35465	TTC			0.562	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465931.1		NM_178526		C	19218819	T	C	19218819	3	2	126	1	0	0	0	0	1	0	0	0	14530	1783	62	4	636	4	SLC25A42	19	19218819	Missense_Mutation	SNP	T	TCGA-XY-A89B-01A-11D-A435-10	5339267	19218819	39910164	67	9421											
MEGF8	1954	mdanderson.org	37	chr19	42880076	42880076	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggccgggcgccccagcaGagccacgggtacgggaggta	7	3	19	12	4	0	1	0	0	0	1	0	2	0	2	4	5	3	3	4	5	2	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:42880076G>T	ENST00000251268.6	+	42	7687	c.7687G>T	c.(7687-7689)Gag>Tag	p.E2563*	MEGF8_ENST00000378073.4_Nonsense_Mutation_p.E157*|MEGF8_ENST00000334370.4_Nonsense_Mutation_p.E2496*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2563	Pro-rich.				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)				CGCCCCAGCAGAGCCACGGGT	0.741																																					p.E2563X													.	.			0			c.G7687T												14	16	16					19																	42880076		2168	4257	6425	SO:0001587	stop_gained	1954	exon42			CCAGCAGAGCCAC	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.7687G>T	19.37:g.42880076G>T	ENSP00000251268:p.Glu2563*		44	0	0		39	0.08	3	NM_001271938	11	0	0	A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	g	23.2	4.393306	0.83011	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-27.3462	13.3963	0.60856	0.0:0.0:1.0:0.0	.	.	.	.	X	2496;2563;157	.	ENSP00000251268:E2563X	E	+	1	0	MEGF8	47571916	1.000000	0.71417	0.954000	0.39281	0.035000	0.12851	5.910000	0.69931	2.634000	0.89283	0.651000	0.88453	GAG			0.741	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000463854.1		NM_001410		T	42880076	G	T	42880076	4	4	126	1	0	0	0	0	0	1	0	0	9479	943	33	3	7648	3	MEGF8	19	42880076	Nonsense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	23661257	42880076	16248907	68	9422											
ZC3H4	23211	mdanderson.org	37	chr19	47575844	47575844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagcctgcgggccaggggGccgaggaggggtgggcagga	6	3	24	8	2	0	0	0	0	0	0	0	4	0	3	3	9	2	1	3	9	0	0			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:47575844G>T	ENST00000253048.5	-	12	1604	c.1567C>A	c.(1567-1569)Ccc>Acc	p.P523T	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	523	Pro-rich.						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)		GGGCCAGGGGGCCGAGGAGGG	0.736																																					p.P523T													.	.			0			c.C1567A												6	7	6					19																	47575844		1722	3772	5494	SO:0001583	missense	23211	exon12			CAGGGGGCCGAGG	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.1567C>A	19.37:g.47575844G>T	ENSP00000253048:p.Pro523Thr		31	0	0		35	0.09	3	NM_015168	18	0	0	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	g	9.291	1.050693	0.19827	.	.	ENSG00000130749	ENST00000253048	T	0.31247	1.5	4.69	3.66	0.41972	.	0.000000	0.64402	D	0.000001	T	0.21550	0.0519	L	0.39898	1.24	0.35612	D	0.808729	P	0.35575	0.51	B	0.32211	0.142	T	0.22277	-1.0221	10	0.34782	T	0.22	.	8.4161	0.32672	0.1826:0.0:0.8174:0.0	.	523	Q9UPT8	ZC3H4_HUMAN	T	523	ENSP00000253048:P523T	ENSP00000253048:P523T	P	-	1	0	ZC3H4	52267684	1.000000	0.71417	0.155000	0.22561	0.083000	0.17756	4.370000	0.59517	0.983000	0.38602	-0.273000	0.10243	CCC			0.736	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466667.1				T	47575844	G	T	47575844	3	4	126	1	0	0	0	0	1	0	0	0	17593	1203	42	2	2360	2	ZC3H4	19	47575844	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	4695768	47575844	11553139	69	9423											
ZNF808	388558	mdanderson.org	37	chr19	53050833	53050833	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaattcctgaaccctgcAcagagggctttgtacaggga	11	9	12	9	0	0	2	0	1	0	1	1	4	1	4	2	3	3	3	2	3	3	3	rs377723416		TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:53050833A>G	ENST00000359798.4	+	4	312	c.132A>G	c.(130-132)gcA>gcG	p.A44A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	44	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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAACCCTGCACAGAGGGCTT	0.463																																					p.A44A													.	.			0			c.A132G												130	135	133					19																	53050833		2203	4300	6503	SO:0001819	synonymous_variant	388558	exon4			CCCTGCACAGAGG	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.132A>G	19.37:g.53050833A>G			97	0.0103092784	1		65	0.11	7	NM_001039886	22	0	0	Q68CN7	Silent	SNP	ENST00000359798.4	37	CCDS46167.1																																																																																					0.463	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350447.3		NM_001039886		G	53050833	A	G	53050833	2	3	126	1	0	0	0	0	0	0	0	1	18196	146	6	4		4	ZNF808	19	53050833	Silent	SNP	A	TCGA-XY-A89B-01A-11D-A435-10	5474989	53050833	6078150	70	9424											
CNOT3	4849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	54646888	54646888	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcaagaaggtgtccgAgggcgtggagcagtttgaag	9	8	16	8	2	1	2	1	1	0	1	2	4	2	3	2	3	2	2	2	3	3	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr19:54646888A>C	ENST00000406403.1	+	2	1662	c.59A>C	c.(58-60)gAg>gCg	p.E20A	CNOT3_ENST00000221232.5_Missense_Mutation_p.E20A|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					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 stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGGTGTCCGAGGGCGTGGAG	0.552																																					p.E20A													CNOT3,NS,carcinoma,+1,6	CNOT3	1	6	0			c.A59C												171	171	171					19																	54646888		2203	4300	6503	SO:0001583	missense	4849	exon3			TGTCCGAGGGCGT	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.59A>C	19.37:g.54646888A>C	ENSP00000383954:p.Glu20Ala		75	0	0		71	0.14	10	NM_014516	171	0.32	54	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685245	0.88639	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.81914	0.995;0.992	D	0.86479	0.1790	10	0.87932	D	0	-31.302	14.0691	0.64849	1.0:0.0:0.0:0.0	.	20;20	B7Z6J7;O75175	.;CNOT3_HUMAN	A	20	ENSP00000221232:E20A;ENSP00000383954:E20A	ENSP00000221232:E20A	E	+	2	0	CNOT3	59338700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.359000	0.90093	2.032000	0.59987	0.533000	0.62120	GAG			0.552	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142130.3		NM_014516		C	54646888	A	C	54646888	3	2	126	1	0	0	0	0	1	0	0	0	3622	304	11	4	65	4	CNOT3	19	54646888	Missense_Mutation	SNP	A	TCGA-XY-A89B-01A-11D-A435-10	1596055	54646888	4482095	71	9425											
CSRP2BP	57325	broad.mit.edu	37	chr20	18142572	18142572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaagagaaaaggtctcGaactcaggaagcaaaagaca	21	5	9	6	1	2	2	1	0	1	2	3	5	2	3	0	2	2	1	0	2	8	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr20:18142572G>T	ENST00000435364.3	+	5	1132	c.791G>T	c.(790-792)cGa>cTa	p.R264L	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R136L|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R263L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	264					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.R264Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AAAAGGTCTCGAACTCAGGAA	0.453																																					p.R264L													CSRP2BP,NS,carcinoma,0,3	CSRP2BP	80	3	1	Substitution - Missense(1)	large_intestine(1)	c.G791T												124	144	137					20																	18142572		2203	4300	6503	SO:0001583	missense	57325	exon5			GGTCTCGAACTCA	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.791G>T	20.37:g.18142572G>T	ENSP00000392318:p.Arg264Leu		88	0	0		94	0.04	4	NM_020536	110	0	0	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.219086	0.58560	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.16196	2.36;2.36;2.36;2.39	5.84	5.84	0.93424	.	0.188137	0.47852	D	0.000211	T	0.17577	0.0422	L	0.29908	0.895	0.80722	D	1	P;P	0.52170	0.951;0.798	P;B	0.45794	0.493;0.195	T	0.02758	-1.1114	10	0.10377	T	0.69	-6.7325	20.563	0.99327	0.0:0.0:1.0:0.0	.	136;264	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	L	264;263;264;136	ENSP00000278816:R264L;ENSP00000366909:R263L;ENSP00000392318:R264L;ENSP00000425909:R136L	ENSP00000278816:R264L	R	+	2	0	CSRP2BP	18090572	1.000000	0.71417	0.956000	0.39512	0.982000	0.71751	9.071000	0.93980	2.937000	0.99478	0.650000	0.86243	CGA			0.453	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078152.5		NM_020536		T	18142572	G	T	18142572	3	4	126	1	0	0	0	0	1	0	0	0	3970	1058	37	1	809	1	CSRP2BP	20	18142572	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10		18142572	44882948	72	9426											
AIRE	326	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	chr21	45716314	45716316	+	Missense_Mutation	TNP	TCC	TCC	GTT																															tgcacagggatgacctggagTcccttctgagcgaggtaacg																										TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	TCC	TCC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr21:45716314_45716316TCC>GTT	ENST00000291582.5	+	13	1679_1681	c.1552_1554TCC>GTT	c.(1552-1554)TCC>GTT	p.S518V	AIRE_ENST00000355347.4_Missense_Mutation_p.S311V|AIRE_ENST00000329347.4_3'UTR	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	518					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TGACCTGGAGTCCCTTCTGAGCG	0.655									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																												p.S518V													.	.			0			c.C1554T																																									SO:0001583	missense	326	exon13	Familial Cancer Database	APECED	CTGGAGTCCCTTC	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1552_1554TCC>GTT	21.37:g.45716314TCC>GTT	ENSP00000291582:p.Ser518Val		104	0	0		65	0.12	8	NM_000383	0		0	B2RP50|O43922|O43932|O75745	Missense_Mutation	TNP	ENST00000291582.5	37	CCDS13706.1																																																																																					0.655	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195842.2				GTT	45716316	TCC	GTT	45716314	3	3	126	1	0	0	0	0	1	0	0	0	437	1667	58	4	1890	4	AIRE	21	45716314	Missense_Mutation	TNP	TCC	TCGA-XY-A89B-01A-11D-A435-10		45716314	2413581	73	9427											
LSS	4047	mdanderson.org	37	chr21	47642587	47642587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactgaccgcaggtaccGcacaatctcttctctgtatc	8	11	7	15	2	2	1	0	1	2	0	5	1	2	1	2	1	2	5	2	1	3	3			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr21:47642587G>A	ENST00000397728.3	-	4	463	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000356396.4_Missense_Mutation_p.R129W|LSS_ENST00000522411.1_Missense_Mutation_p.R129W|LSS_ENST00000457828.2_Missense_Mutation_p.R49W|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	129					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CGCAGGTACCGCACAATCTCT	0.592																																					p.R129W	Pancreas(114;955 2313 34923 50507)												LSS,colon,carcinoma,+1,1	LSS	1	1	0			c.C385T												133	102	112					21																	47642587		2203	4300	6503	SO:0001583	missense	4047	exon4			GGTACCGCACAAT	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.385C>T	21.37:g.47642587G>A	ENSP00000380837:p.Arg129Trp		28	0	0		49	0.06	3	NM_001145436	97	0	0	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887511	0.91814	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.07	5.07	0.68467	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85734	0.1333	10	0.87932	D	0	.	18.4016	0.90518	0.0:0.0:1.0:0.0	.	129;129	E9PEI9;P48449	.;ERG7_HUMAN	W	129;49;129;129;130	ENSP00000348762:R129W;ENSP00000409191:R49W;ENSP00000380837:R129W;ENSP00000429133:R129W;ENSP00000391368:R130W	ENSP00000348762:R129W	R	-	1	2	LSS	46467015	1.000000	0.71417	0.947000	0.38551	0.997000	0.91878	4.580000	0.60942	2.512000	0.84698	0.609000	0.83330	CGG			0.592	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207274.2				A	47642587	G	A	47642587	3	1	126	1	0	0	0	0	1	0	0	0	9081	1086	38	1	1889	1	LSS	21	47642587	Missense_Mutation	SNP	G	TCGA-XY-A89B-01A-11D-A435-10	1926273	47642587	487308	74	9428											
THOC5	8563	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	29916094	29916094	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcgctcaaagtcaggatgCtgcagaaaagaagataaata	18	7	10	6	1	2	3	2	0	0	3	3	4	2	4	0	1	2	3	0	1	7	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr22:29916094C>G	ENST00000490103.1	-	14	1400		c.e14-1		THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTCAGGATGCTGCAGAAAAG	0.522																																					.													.	.			0			c.1278-1G>C												62	56	58					22																	29916094		2203	4300	6503	SO:0001630	splice_region_variant	8563	exon16			AGGATGCTGCAGA	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1278-1G>C	22.37:g.29916094C>G			57	0	0		52	0.19	10	NM_001002877	7	1	7	O60839|Q9UPZ5	Splice_Site	SNP	ENST00000490103.1	37	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016244	0.75161	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5308	0.95228	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC5	28246094	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	7.028000	0.76470	2.715000	0.92844	0.655000	0.94253	.			0.522	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322097.1		NM_003678	Intron	G	29916094	C	G	29916094	5	3	126	1	0	0	0	0	0	0	1	0	15891	811	28	5	802	5	THOC5	22	29916094	Splice_Site	SNP	C	TCGA-XY-A89B-01A-11D-A435-10		29916094	21388472	75	9429											
APOBEC3B	9582	hgsc.bcm.edu	37	chr22	39382074	39382074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcaggcaggagcccgCgtgacgatcatggactatga	10	7	14	10	3	2	3	2	3	0	0	2	6	2	5	1	3	1	1	1	3	1	1			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chr22:39382074C>T	ENST00000333467.3	+	3	477	c.432C>T	c.(430-432)cgC>cgT	p.R144R	APOBEC3B_ENST00000402182.3_Silent_p.R144R|APOBEC3B_ENST00000407298.3_Silent_p.R144R	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	144					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CAGGAGCCCGCGTGACGATCA	0.587																																					p.R144R													APOBEC3B,NS,carcinoma,+1,1	APOBEC3B	1	1	0			c.C432T												51	56	54					22																	39382074		2197	4279	6476	SO:0001819	synonymous_variant	9582	exon3			AGCCCGCGTGACG	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.432C>T	22.37:g.39382074C>T			43	0	0		37	0.08	3	NM_004900	12	0	0	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	CCDS13982.1																																																																																					0.587	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321233.1		NM_004900		T	39382074	C	T	39382074	2	4	126	1	0	0	0	0	0	0	0	1	790	755	27	1		1	APOBEC3B	22	39382074	Silent	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	9465980	39382074	11922492	76	9430											
CYBB	1536	mdanderson.org	37	chrX	37665737	37665737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgcaggaaaggaacaatgCcggcttcctcagctacaaca	14	6	10	11	1	1	0	1	0	0	0	2	3	2	2	2	3	6	3	2	3	5	2			TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chrX:37665737C>T	ENST00000378588.4	+	11	1479	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.A439V|CYBB_ENST00000536160.1_Missense_Mutation_p.A204V	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	471					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	AGGAACAATGCCGGCTTCCTC	0.527																																					p.A471V													.	.			0			c.C1412T												116	89	98					X																	37665737		2202	4300	6502	SO:0001583	missense	1536	exon11			ACAATGCCGGCTT	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1412C>T	X.37:g.37665737C>T	ENSP00000367851:p.Ala471Val		53	0	0		48	0.06	3	NM_000397	690	0	0	A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	C	5.680	0.309999	0.10733	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.95690	-3.75;-3.78;-3.28	5.61	5.61	0.85477	Ferric reductase, NAD binding (1);	0.350128	0.33515	N	0.004840	D	0.89022	0.6597	N	0.11560	0.145	0.33562	D	0.597505	B;B	0.14438	0.002;0.01	B;B	0.14023	0.002;0.01	D	0.87628	0.2514	10	0.26408	T	0.33	.	13.5387	0.61662	0.1557:0.8443:0.0:0.0	.	439;471	F5GWD2;P04839	.;CY24B_HUMAN	V	471;439;204	ENSP00000367851:A471V;ENSP00000441896:A439V;ENSP00000441958:A204V	ENSP00000367851:A471V	A	+	2	0	CYBB	37550681	0.980000	0.34600	0.627000	0.29227	0.077000	0.17291	2.401000	0.44513	2.332000	0.79248	0.544000	0.68410	GCC			0.527	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080881.1				T	37665737	C	T	37665737	3	4	126	1	0	0	0	0	1	0	0	0	4135	739	26	2	1454	2	CYBB	23	37665737	Missense_Mutation	SNP	C	TCGA-XY-A89B-01A-11D-A435-10		37665737	117604823	77	9431											
PORCN	64840	broad.mit.edu	37	chrX	48370301	48370301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcacatggtagacacCgtgacatggcacaagatgcg	13	6	13	9	2	0	4	0	1	0	3	0	5	0	4	1	2	2	3	1	2	2	1	rs142038251		TCGA-XY-A89B-01A-11D-A435-10	TCGA-XY-A89B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33cb241d-2efe-4922-af5a-389ea190a083	f478c02b-426c-4d7c-824f-ef1b8d222670	g.chrX:48370301C>T	ENST00000326194.6	+	3	394	c.351C>T	c.(349-351)acC>acT	p.T117T	PORCN_ENST00000355961.4_Silent_p.T117T|PORCN_ENST00000361988.3_Silent_p.T117T|PORCN_ENST00000359882.4_Silent_p.T117T|PORCN_ENST00000537758.1_Silent_p.T117T|PORCN_ENST00000367574.4_Silent_p.T46T|PORCN_ENST00000355092.3_Silent_p.T117T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	117					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGTAGACACCGTGACATGGC	0.607											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T117T													.	PORCN	61		0			c.C351T							C	,,,	0,3835		0,0,1632,571	163	110	128		351,351,351,351	-3.4	1	X	dbSNP_134	128	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PORCN	NM_022825.2,NM_203473.1,NM_203474.1,NM_203475.1	,,,	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,,,	117/451,117/457,117/456,117/462	48370301	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	64840	exon3			AGACACCGTGACA	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.351C>T	X.37:g.48370301C>T			301	0	0	954	295	0.02	5	NM_203475	30	0	0	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	ENST00000326194.6	37	CCDS14299.1																																																																																					0.607	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000356990.1		NM_022825		T	48370301	C	T	48370301	2	4	126	1	0	0	0	0	0	0	0	1	12275	639	23	1		1	PORCN	23	48370301	Silent	SNP	C	TCGA-XY-A89B-01A-11D-A435-10	10704564	48370301	106900259	78	9432											
RERE	473	ucsc.edu;bcgsc.ca	37	chr1	8424850	8424850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaccccttcagctcctgcTcactgtcctcactgtcgaag	6	11	7	17	2	3	0	3	0	0	0	6	1	5	0	4	0	3	3	4	0	2	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:8424850T>C	ENST00000337907.3	-	15	2130	c.1496A>G	c.(1495-1497)gAg>gGg	p.E499G	RERE_ENST00000400907.2_Missense_Mutation_p.E499G|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000377464.1_Missense_Mutation_p.E231G|RERE_ENST00000400908.2_Missense_Mutation_p.E499G|RERE_ENST00000476556.1_5'UTR	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	499					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)		CAGCTCCTGCTCACTGTCCTC	0.617																																					p.E499G													.	RERE	129		0			c.A1496G												104	74	84					1																	8424850		2203	4300	6503	SO:0001583	missense	473	exon15			TCCTGCTCACTGT	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.1496A>G	1.37:g.8424850T>C	ENSP00000338629:p.Glu499Gly		34	0	0		32	0.13	4	NM_012102	99	0	0	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	T	31	5.070425	0.93950	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T	0.47528	0.85;0.84;0.85	5.78	5.78	0.91487	.	.	.	.	.	T	0.56934	0.2019	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.56025	-0.8047	9	0.39692	T	0.17	-26.3576	15.2892	0.73854	0.0:0.0:0.0:1.0	.	231;499	B1AKN3;Q9P2R6	.;RERE_HUMAN	G	499;231;499;499	ENSP00000338629:E499G;ENSP00000366684:E231G;ENSP00000383700:E499G	ENSP00000338629:E499G	E	-	2	0	RERE	8347437	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.698000	0.84413	2.194000	0.70268	0.533000	0.62120	GAG			0.617	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000004916.1				C	8424850	T	C	8424850	3	2	127	1	0	0	0	0	1	0	0	0	13254	1551	54	4	3244	4	RERE	1	8424850	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10		8424850	240825771	1	9433											
PHACTR4	65979	broad.mit.edu	37	chr1	28793239	28793239	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcagccccctatcccTccccctaaaccagctcacag	10	5	5	21	0	1	0	1	0	0	0	3	0	3	0	7	0	4	2	7	0	4	2	rs34628351		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:28793239T>C	ENST00000373839.3	+	6	1044	c.783T>C	c.(781-783)ccT>ccC	p.P261P	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.P271P	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	261	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTATCCCTCCCCCTAAAC	0.517																																					p.P271P													.	PHACTR4	64		0			c.T813C												82	84	84					1																	28793239		1929	4139	6068	SO:0001819	synonymous_variant	65979	exon5			TATCCCTCCCCCT	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.783T>C	1.37:g.28793239T>C			128	0.0078125	1		122	0.04	5	NM_023923	57	0	0	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	ENST00000373839.3	37	CCDS41293.1																																																																																					0.517	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000009868.4		NM_023923		C	28793239	T	C	28793239	2	2	127	1	0	0	0	0	0	0	0	1	11829	1538	54	4		4	PHACTR4	1	28793239	Silent	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	20368389	28793239	220457382	2	9434											
FOXD2	2306	hgsc.bcm.edu;broad.mit.edu	37	chr1	47905268	47905268	+	Frame_Shift_Del	DEL	C	C	-																															tcccggtttgccagcaaagtCgccggccttagtggctgcca																										TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:47905268delC	ENST00000334793.5	+	1	3580	c.1461delC	c.(1459-1461)gtcfs	p.V487fs		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	487					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CCAGCAAAGTCGCCGGCCTTA	0.682																																					p.V487fs													.	.			0			c.1460delT												4	5	5					1																	47905268		2113	4180	6293	SO:0001589	frameshift_variant	2306	exon1			CAAAGTCGCCGGC	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.1461delC	1.37:g.47905268delC	ENSP00000335493:p.Val487fs		90	0	0		144	0.09	13	NM_004474	1	0	0	Q5SVZ3	Frame_Shift_Del	DEL	ENST00000334793.5	37	CCDS30708.1																																																																																					0.682	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021831.1		NM_004474		-	47905268	C	-	47905268	7	5	127	1	0	1	0	1	0	0	0	0	6010	871	31	0	1463	0	FOXD2	1	47905268	Frame_Shift_Del	DEL	C	TCGA-XY-A8S2-01A-11D-A435-10	19112029	47905268	201345353	3	9435	18	3									
FOXD2	2306	hgsc.bcm.edu;broad.mit.edu	37	chr1	47905271	47905272	+	Frame_Shift_Ins	INS	-	-	A																															ggtttgccagcaaagtcgccINSggccttagtggctgccactt																								rs561751813		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:47905271_47905272insA	ENST00000334793.5	+	1	3583_3584	c.1464_1465insA	c.(1465-1467)ggcfs	p.G489fs		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	489					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GCAAAGTCGCCGGCCTTAGTGG	0.678																																					p.A488fs													.	.			0			c.1464_1465insA																																									SO:0001589	frameshift_variant	2306	exon1			AGTCGCCGGCCTT	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	Exception_encountered	1.37:g.47905271_47905272insA	ENSP00000335493:p.Gly489fs		98	0	0		155	0.06	10	NM_004474	0		0	Q5SVZ3	Frame_Shift_Ins	INS	ENST00000334793.5	37	CCDS30708.1																																																																																					0.678	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021831.1		NM_004474		A	47905272	-	A	47905271	7	5	127	1	0	1	1	0	0	0	0	0	6010	639	23	0	1466	0	FOXD2	1	47905271	Frame_Shift_Ins	INS	-	TCGA-XY-A8S2-01A-11D-A435-10	3	47905271	201345350	4	9436	18	3									
FOXD2	2306	hgsc.bcm.edu;broad.mit.edu	37	chr1	47905272	47905273	+	In_Frame_Ins	INS	-	-	CAAAGA																															gtttgccagcaaagtcgccgINSgccttagtggctgccacttc																								rs561751813		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:47905272_47905273insCAAAGA	ENST00000334793.5	+	1	3584_3585	c.1465_1466insCAAAGA	c.(1465-1467)ggc>gCAAAGAgc	p.489_489G>AKS		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	489					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CAAAGTCGCCGGCCTTAGTGGC	0.683																																					p.G489delinsAKS													.	.			0			c.1465_1466insCAAAGA																																									SO:0001652	inframe_insertion	2306	exon1			GTCGCCGGCCTTA	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	Exception_encountered	1.37:g.47905272_47905273insCAAAGA	ENSP00000335493:p.Gly489delinsAlaLysSer		99	0	0		158	0.06	10	NM_004474	0		0	Q5SVZ3	In_Frame_Ins	INS	ENST00000334793.5	37	CCDS30708.1																																																																																					0.683	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021831.1		NM_004474		CAAAGA	47905273	-	CAAAGA	47905272	7	5	127	1	0	1	1	0	0	0	0	0	6010	1116	39	0	1467	0	FOXD2	1	47905272	In_Frame_Ins	INS	-	TCGA-XY-A8S2-01A-11D-A435-10	1	47905272	201345349	5	9437	18	3									
ZCCHC11	23318	broad.mit.edu	37	chr1	52991402	52991403	+	Frame_Shift_Ins	INS	-	-	T																															agaagtaaaggagcttggaaINSttttttttccaatctgttgt																								rs180741095		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:52991402_52991403insT	ENST00000371544.3	-	2	812_813	c.550_551insA	c.(550-552)attfs	p.I184fs	ZCCHC11_ENST00000257177.4_Frame_Shift_Ins_p.I184fs|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Frame_Shift_Ins_p.I184fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	184					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGAGCTTGGAATTTTTTTTCCA	0.406																																					p.I184fs													.	ZCCHC11	151		0			c.551_552insA																																									SO:0001589	frameshift_variant	23318	exon2			CTTGGAATTTTTT	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.551dupA	1.37:g.52991410_52991410dupT	ENSP00000360599:p.Ile184fs		166	0	0		526	0	0	NM_001009881	188	0	0	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Ins	INS	ENST00000371544.3	37	CCDS30716.1																																																																																					0.406	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000022462.1		XM_038288		T	52991403	-	T	52991402	7	5	127	1	0	1	1	0	0	0	0	0	17603	101	4	0	4502	0	ZCCHC11	1	52991402	Frame_Shift_Ins	INS	-	TCGA-XY-A8S2-01A-11D-A435-10	5086130	52991402	196259219	6	9438											
ATP1A1	476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	116940526	116940526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagggatgccaaggcctgcGtagtacacggcagtgatcta	10	8	13	10	2	1	1	0	1	1	0	1	2	1	2	2	3	3	3	2	3	5	4	rs200285355		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:116940526G>A	ENST00000295598.5	+	15	2242	c.1990G>A	c.(1990-1992)Gta>Ata	p.V664I	ATP1A1_ENST00000369496.4_Missense_Mutation_p.V633I|ATP1A1_ENST00000537345.1_Missense_Mutation_p.V664I	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	664					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)	CAAGGCCTGCGTAGTACACGG	0.468																																					p.V664I													ATP1A1,NS,carcinoma,-2,1	ATP1A1	-2	1	0			c.G1990A												132	116	121					1																	116940526		2203	4300	6503	SO:0001583	missense	476	exon15			GCCTGCGTAGTAC	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.1990G>A	1.37:g.116940526G>A	ENSP00000295598:p.Val664Ile		48	0	0		51	0.18	9	NM_000701	1540	0.09	144	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103243	0.94245	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000369496	D;D;D	0.95980	-3.87;-3.87;-3.85	5.15	5.15	0.70609	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96457	0.8844	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.986;0.992	D	0.96740	0.9546	10	0.66056	D	0.02	.	18.8196	0.92090	0.0:0.0:1.0:0.0	.	664;664	F5H3A1;P05023	.;AT1A1_HUMAN	I	664;664;633	ENSP00000295598:V664I;ENSP00000445306:V664I;ENSP00000358508:V633I	ENSP00000295598:V664I	V	+	1	0	ATP1A1	116742049	1.000000	0.71417	0.639000	0.29394	0.896000	0.52359	9.657000	0.98554	2.673000	0.90976	0.655000	0.94253	GTA	0.001		0.468	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000033481.5		NM_001160233		A	116940526	G	A	116940526	3	1	127	1	0	0	0	0	1	0	0	0	1128	1145	40	1	2064	1	ATP1A1	1	116940526	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	63949124	116940526	132310095	7	9439											
CD1C	911	broad.mit.edu	37	chr1	158261009	158261009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggtcagggctcaggatgGctggacgagttgcagactca	9	7	16	9	2	3	1	3	0	0	1	3	5	3	3	0	5	1	4	0	5	0	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:158261009G>T	ENST00000368170.3	+	2	426	c.147G>T	c.(145-147)tgG>tgT	p.W49C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	49					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCTCAGGATGGCTGGACGAGT	0.498																																					p.W49C													.	CD1C	100		0			c.G147T												103	90	94					1																	158261009		2203	4300	6503	SO:0001583	missense	911	exon2			AGGATGGCTGGAC	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.147G>T	1.37:g.158261009G>T	ENSP00000357152:p.Trp49Cys		198	0	0		174	0.02	4	NM_001765	1	0	0	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	12.95	2.092555	0.36952	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.07800	3.16	3.32	2.4	0.29515	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.33075	N	0.005309	T	0.14356	0.0347	M	0.89534	3.04	0.09310	N	1	D	0.61697	0.99	P	0.59825	0.864	T	0.03086	-1.1074	10	0.87932	D	0	.	6.5825	0.22602	0.1315:0.0:0.8685:0.0	.	49	P29017	CD1C_HUMAN	C	49	ENSP00000357152:W49C	ENSP00000357151:W49C	W	+	3	0	CD1C	156527633	0.992000	0.36948	0.019000	0.16419	0.346000	0.29079	3.642000	0.54367	0.988000	0.38734	-0.142000	0.14014	TGG			0.498	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046351.2		NM_001765		T	158261009	G	T	158261009	3	4	127	1	0	0	0	0	1	0	0	0	2978	1212	42	2	153	2	CD1C	1	158261009	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	41320483	158261009	90989612	8	9440											
ZBTB37	84614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	173839876	173839876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgacataataccccaaaGggaaaccggcgaggtcaggt	14	4	11	12	3	1	0	1	0	0	0	1	3	1	1	4	4	2	0	4	4	4	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:173839876G>A	ENST00000367701.5	+	2	704	c.513G>A	c.(511-513)aaG>aaA	p.K171K	ZBTB37_ENST00000367702.1_Silent_p.K171K|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367704.1_Silent_p.K171K|ZBTB37_ENST00000432989.1_Silent_p.K171K|ZBTB37_ENST00000427304.1_Silent_p.K171K			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	171					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)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ATACCCCAAAGGGAAACCGGC	0.502																																					p.K171K													.	.			0			c.G513A												55	58	57					1																	173839876		2203	4300	6503	SO:0001819	synonymous_variant	84614	exon3			CCCAAAGGGAAAC	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.513G>A	1.37:g.173839876G>A			95	0	0		86	0.38	33	NM_032522	6	0.83	5	Q5TC80|Q96M87|Q9BQ88	Silent	SNP	ENST00000367701.5	37	CCDS44278.1																																																																																					0.502	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090729.2		NM_032522		A	173839876	G	A	173839876	2	1	127	1	0	0	0	0	0	0	0	1	17561	991	35	3		3	ZBTB37	1	173839876	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	15578867	173839876	75410745	9	9441											
OBSCN	84033	broad.mit.edu	37	chr1	228553857	228553857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaggctatcattgagggCgacccacagccctcggtgac	8	8	12	13	3	1	2	1	2	0	0	3	4	1	2	2	3	1	1	2	3	1	3	rs187833194	byFrequency	TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:228553857C>T	ENST00000422127.1	+	83	19190	c.19146C>T	c.(19144-19146)ggC>ggT	p.G6382G	OBSCN_ENST00000366707.4_Silent_p.G4016G|OBSCN_ENST00000570156.2_Silent_p.G7339G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6382	Ig-like 54.				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)				TCATTGAGGGCGACCCACAGC	0.657													C|||	3	0.000599042	8e-04	0.0029	5008	,	,		19577	0		0	False		,,,				2504	0				p.G7339G													.	OBSCN	2142		0			c.C22017T							C		4,4158		0,4,2077	71	77	75		19146	1.1	0.9	1		75	2,8404		0,2,4201	no	coding-synonymous	OBSCN	NM_001098623.1		0,6,6278	TT,TC,CC		0.0238,0.0961,0.0477		6382/7969	228553857	6,12562	2081	4203	6284	SO:0001819	synonymous_variant	84033	exon94			TGAGGGCGACCCA	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.19146C>T	1.37:g.228553857C>T			197	0	0		214	0.02	5	NM_001271223	1	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.31	1.315935	0.23908	9.61E-4	2.38E-4	ENSG00000154358	ENST00000441106	.	.	.	5.41	1.14	0.20703	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5707	0.12208	0.168:0.2832:0.4605:0.0883	.	.	.	.	X	999	.	.	R	+	1	2	OBSCN	226620480	0.003000	0.15002	0.910000	0.35882	0.219000	0.24729	-0.225000	0.09151	0.249000	0.21456	-0.671000	0.03813	CGA			0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		T	228553857	C	T	228553857	2	4	127	1	0	0	0	0	0	0	0	1	10829	755	27	1		1	OBSCN	1	228553857	Silent	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	54713981	228553857	20696764	10	9442											
GNPAT	8443	mdanderson.org	37	chr1	231401776	231401776	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcttctgaatattgtGatggagccattttttaaaag	11	15	10	5	0	2	2	0	2	2	0	2	3	2	3	1	2	1	1	1	2	4	6			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr1:231401776G>T	ENST00000366647.4	+	7	958	c.789G>T	c.(787-789)gtG>gtT	p.V263V	GNPAT_ENST00000366646.3_Silent_p.V202V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	263					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)				TGAATATTGTGATGGAGCCAT	0.353																																					p.V263V													.	.			0			c.G789T												85	83	83					1																	231401776		2203	4299	6502	SO:0001819	synonymous_variant	8443	exon7			TATTGTGATGGAG	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.789G>T	1.37:g.231401776G>T			43	0.023255814	1		47	0.06	3	NM_014236	51	0	0	B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	ENST00000366647.4	37	CCDS1592.1																																																																																					0.353	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092871.1				T	231401776	G	T	231401776	2	4	127	1	0	0	0	0	0	0	0	1	6555	1277	45	3		3	GNPAT	1	231401776	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	2847919	231401776	17848845	11	9443											
ACOXL	55289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	111556598	111556598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccttccttagggccccaCtgtttcatcgttcctgtccg	4	14	8	15	2	1	0	1	0	0	0	5	0	4	0	6	1	1	2	6	1	1	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr2:111556598C>G	ENST00000389811.4	+	7	692	c.468C>G	c.(466-468)caC>caG	p.H156Q	ACOXL_ENST00000439055.1_Missense_Mutation_p.H156Q|ACOXL_ENST00000340561.4_Missense_Mutation_p.H156Q			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	156					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						TAGGGCCCCACTGTTTCATCG	0.463																																					p.H156Q													.	.			0			c.C468G												139	121	127					2																	111556598		2203	4300	6503	SO:0001583	missense	55289	exon7			GCCCCACTGTTTC		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.468C>G	2.37:g.111556598C>G	ENSP00000374461:p.His156Gln		94	0	0		121	0.2	24	NM_001142807	64	0.31	20	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.94|16.94	3.262079|3.262079	0.59431|0.59431	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561|ENST00000422487	D;D;D|.	0.98937|.	-5.25;-5.25;-5.25|.	5.35|5.35	2.51|2.51	0.30379|0.30379	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);|.	0.065659|.	0.64402|.	D|.	0.000019|.	T|T	0.60907|0.60907	0.2305|0.2305	L|L	0.56396|0.56396	1.775|1.775	0.36658|0.36658	D|D	0.877786|0.877786	D;D;D|.	0.76494|.	0.999;0.999;0.996|.	D;D;D|.	0.73380|.	0.96;0.974;0.98|.	T|T	0.66771|0.66771	-0.5839|-0.5839	10|6	0.87932|0.87932	D|D	0|0	-31.4712|-31.4712	8.061|8.061	0.30633|0.30633	0.0:0.6645:0.0:0.3355|0.0:0.6645:0.0:0.3355	.|.	156;156;156|.	E9PB20;Q9NUZ1-2;Q9NUZ1|.	.;.;ACOXL_HUMAN|.	Q|S	156|8	ENSP00000374461:H156Q;ENSP00000407761:H156Q;ENSP00000343717:H156Q|.	ENSP00000343717:H156Q|ENSP00000404255:T8S	H|T	+|+	3|2	2|0	ACOXL|ACOXL	111273069|111273069	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.417000|0.417000	0.21214|0.21214	0.734000|0.734000	0.32515|0.32515	0.650000|0.650000	0.86243|0.86243	CAC|ACT			0.463	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000254024.2		NM_018308		G	111556598	C	G	111556598	3	3	127	1	0	0	0	0	1	0	0	0	161	564	20	5	490	5	ACOXL	2	111556598	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10		111556598	131642775	12	9444											
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	152486121	152486121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacttcgcaagtcgtagcCtttcttttttgcttcttcat	5	19	6	11	2	4	0	2	0	2	0	6	0	4	0	1	0	2	3	1	0	2	8			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr2:152486121C>G	ENST00000172853.10	-	64	9181	c.9034G>C	c.(9034-9036)Ggc>Cgc	p.G3012R	NEB_ENST00000603639.1_Missense_Mutation_p.G3255R|NEB_ENST00000409198.1_Missense_Mutation_p.G3012R|NEB_ENST00000427231.2_Missense_Mutation_p.G3255R|NEB_ENST00000397345.3_Missense_Mutation_p.G3255R|NEB_ENST00000604864.1_Missense_Mutation_p.G3255R			P20929	NEBU_HUMAN	nebulin	3012					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)		AAGTCGTAGCCTTTCTTTTTT	0.423																																					p.G3255R													.	.			0			c.G9763C												154	154	154					2																	152486121		1912	4122	6034	SO:0001583	missense	4703	exon68			CGTAGCCTTTCTT	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.9034G>C	2.37:g.152486121C>G	ENSP00000172853:p.Gly3012Arg		77	0	0		94	0.2	19	NM_001271208	9	0.44	4	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	34	5.371430	0.95923	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.27104	1.72;1.86;1.75;1.69	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72798	-0.4184	10	0.87932	D	0	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	3012	P20929	NEBU_HUMAN	R	3012;3255;3255;3012	ENSP00000386259:G3012R;ENSP00000380505:G3255R;ENSP00000416578:G3255R;ENSP00000172853:G3012R	ENSP00000172853:G3012R	G	-	1	0	NEB	152194367	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.495000	0.81514	2.873000	0.98535	0.563000	0.77884	GGC			0.423	NEB-201	KNOWN	basic	protein_coding	protein_coding				NM_004543		G	152486121	C	G	152486121	3	3	127	1	0	0	0	0	1	0	0	0	10319	681	24	5	16383	5	NEB	2	152486121	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	40929523	152486121	90713252	13	9445											
SLC4A10	57282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	162751205	162751205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaggtatttcatgatgttgCctataaagctaaagatcgta	15	13	8	5	1	1	2	1	1	0	1	2	2	1	2	1	1	2	4	1	1	8	7			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr2:162751205C>T	ENST00000446997.1	+	11	1304	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	SLC4A10_ENST00000415876.2_Missense_Mutation_p.A374V|SLC4A10_ENST00000535165.1_Missense_Mutation_p.P375S|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A374V|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.A385V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.A404V	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	404					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CATGATGTTGCCTATAAAGCT	0.318																																					p.A404V													.	.			0			c.C1211T												96	86	89					2																	162751205		1807	4069	5876	SO:0001583	missense	57282	exon11			ATGTTGCCTATAA		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1211C>T	2.37:g.162751205C>T	ENSP00000393066:p.Ala404Val		86	0	0		105	0.26	27	NM_001178015	0		0	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.166251|5.166251	0.94768|0.94768	.|.	.|.	ENSG00000144290|ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711|ENST00000535165	T;T;T;T;T|T	0.80824|0.51071	-1.42;-1.42;-1.42;-1.42;-1.42|0.72	5.43|5.43	5.43|5.43	0.79202|0.79202	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68091|0.68091	0.2963|0.2963	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.996;0.999;0.989|.	T|T	0.64076|0.64076	-0.6492|-0.6492	10|7	0.59425|0.17369	D|T	0.04|0.5	.|.	19.6166|19.6166	0.95636|0.95636	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	385;404;374;404|.	F8W675;E7EW28;Q6U841-2;Q6U841|.	.;.;.;S4A10_HUMAN|.	V|S	385;374;374;373;404;404;403|375	ENSP00000364664:A385V;ENSP00000395797:A374V;ENSP00000272716:A374V;ENSP00000393066:A404V;ENSP00000404486:A404V|ENSP00000437527:P375S	ENSP00000272716:A374V|ENSP00000437527:P375S	A|P	+|+	2|1	0|0	SLC4A10|SLC4A10	162459451|162459451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	7.776000|7.776000	0.85560|0.85560	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	GCC|CCT			0.318	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333090.1		NM_022058		T	162751205	C	T	162751205	3	4	127	1	0	0	0	0	1	0	0	0	14674	739	26	2	1338	2	SLC4A10	2	162751205	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	10265084	162751205	80448168	14	9446											
ABCB11	8647	mdanderson.org	37	chr2	169787208	169787208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatcatagaaacgttcCaacagctgaatgctagtgct	13	10	9	9	1	2	2	2	1	0	1	3	3	3	3	1	1	5	4	1	1	5	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr2:169787208C>G	ENST00000263817.6	-	25	3502	c.3378G>C	c.(3376-3378)ttG>ttC	p.L1126F		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1126	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)	AGAAACGTTCCAACAGCTGAA	0.483																																					p.L1126F													.	.			0			c.G3378C												79	76	77					2																	169787208		2029	4177	6206	SO:0001583	missense	8647	exon25			ACGTTCCAACAGC	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.3378G>C	2.37:g.169787208C>G	ENSP00000263817:p.Leu1126Phe		74	0	0		70	0.07	5	NM_003742	0		0	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256553	0.80246	.	.	ENSG00000073734	ENST00000263817	D	0.95656	-3.77	6.08	6.08	0.98989	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97807	0.9280	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	D	0.97994	1.0356	10	0.87932	D	0	.	13.8141	0.63281	0.0:0.9304:0.0:0.0696	.	568;1126	B4DZQ8;O95342	.;ABCBB_HUMAN	F	1126	ENSP00000263817:L1126F	ENSP00000263817:L1126F	L	-	3	2	ABCB11	169495454	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.263000	0.51546	2.890000	0.99128	0.655000	0.94253	TTG			0.483	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333616.2		NM_003742		G	169787208	C	G	169787208	3	3	127	1	0	0	0	0	1	0	0	0	42	593	21	5	603	5	ABCB11	2	169787208	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	7036003	169787208	73412165	15	9447											
DLX2	1746	broad.mit.edu	37	chr2	172965287	172965287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttagaaaatcgtccccGcgctcaccggggcgcccccg	6	5	14	16	6	1	1	1	0	0	1	3	1	2	1	5	4	0	2	5	4	3	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr2:172965287G>T	ENST00000234198.4	-	3	1332	c.971C>A	c.(970-972)gCg>gAg	p.A324E	DLX2_ENST00000466293.2_3'UTR|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	324					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AATCGTCCCCGCGCTCACCGG	0.677																																					p.A324E	GBM(188;775 2993 11256 23072)												.	DLX2	29		0			c.C971A												22	26	25					2																	172965287		2200	4287	6487	SO:0001583	missense	1746	exon3			GTCCCCGCGCTCA	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.971C>A	2.37:g.172965287G>T	ENSP00000234198:p.Ala324Glu		36	0	0		70	0.04	3	NM_004405	1	0	0	B4DMK4|B7ZA14	Missense_Mutation	SNP	ENST00000234198.4	37	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122899	0.94429	.	.	ENSG00000115844	ENST00000234198	D	0.91464	-2.85	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.92434	0.5956	10	0.72032	D	0.01	-13.9839	15.8472	0.78901	0.0:0.0:1.0:0.0	.	324	Q07687	DLX2_HUMAN	E	324	ENSP00000234198:A324E	ENSP00000234198:A324E	A	-	2	0	DLX2	172673533	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.251000	0.72441	2.004000	0.58718	0.462000	0.41574	GCG			0.677	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255368.3				T	172965287	G	T	172965287	3	4	127	1	0	0	0	0	1	0	0	0	4576	1087	38	1	19	1	DLX2	2	172965287	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	3178079	172965287	70234086	16	9448											
HECW2	57520	mdanderson.org	37	chr2	197084819	197084819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctatttcagctgtgcctGcgatgaccaattccagttct	7	14	9	11	1	3	1	1	1	2	0	4	2	4	1	3	1	3	2	3	1	2	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr2:197084819G>T	ENST00000260983.3	-	26	4534	c.4352C>A	c.(4351-4353)gCa>gAa	p.A1451E	HECW2_ENST00000409111.1_Missense_Mutation_p.A1095E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1451	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGCTGTGCCTGCGATGACCAA	0.403																																					p.A1451E													.	.			0			c.C4352A												128	123	125					2																	197084819		2203	4300	6503	SO:0001583	missense	57520	exon26			GTGCCTGCGATGA	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4352C>A	2.37:g.197084819G>T	ENSP00000260983:p.Ala1451Glu		38	0	0		47	0.06	3	NM_020760	9	0	0	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095055	0.94197	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.56776	0.44;0.44	5.11	5.11	0.69529	HECT (4);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69793	-0.5049	10	0.87932	D	0	.	18.7211	0.91694	0.0:0.0:1.0:0.0	.	1451	Q9P2P5	HECW2_HUMAN	E	1095;1451	ENSP00000386775:A1095E;ENSP00000260983:A1451E	ENSP00000260983:A1451E	A	-	2	0	HECW2	196793064	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.263000	0.95617	2.637000	0.89404	0.655000	0.94253	GCA			0.403	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335199.3		NM_020760		T	197084819	G	T	197084819	3	4	127	1	0	0	0	0	1	0	0	0	7058	1319	46	2	382	2	HECW2	2	197084819	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	24119532	197084819	46114554	17	9449											
SP140	11262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	231174675	231174675	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgaggtgtgccgggacGgaggggagctgttctgttgc	5	10	20	6	2	1	1	0	1	1	0	1	4	1	4	1	5	3	3	1	5	0	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr2:231174675G>T	ENST00000392045.3	+	23	2209	c.2095G>T	c.(2095-2097)Gga>Tga	p.G699*	SP140_ENST00000343805.6_Nonsense_Mutation_p.G639*|SP140_ENST00000417495.3_Nonsense_Mutation_p.G585*|SP140_ENST00000420434.3_Nonsense_Mutation_p.G672*|SP140_ENST00000350136.5_Nonsense_Mutation_p.G568*|SP140_ENST00000486687.2_Nonsense_Mutation_p.G623*	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	699					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)		GTGCCGGGACGGAGGGGAGCT	0.537																																					p.G699X													.	.			0			c.G2095T												179	192	188					2																	231174675		2170	4291	6461	SO:0001587	stop_gained	11262	exon23			CGGGACGGAGGGG	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.2095G>T	2.37:g.231174675G>T	ENSP00000375899:p.Gly699*		186	0	0		204	0.25	50	NM_007237	16	0	0	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Nonsense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901526	0.92035	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	.	.	.	2.91	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.9758	5.1126	0.14817	0.2848:0.0:0.7152:0.0	.	.	.	.	X	623;568;699;585;639;672	.	ENSP00000342096:G639X	G	+	1	0	SP140	230882919	0.001000	0.12720	0.007000	0.13788	0.036000	0.12997	0.524000	0.22940	0.296000	0.22592	0.456000	0.33151	GGA			0.537	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000332015.1		NM_007237		T	231174675	G	T	231174675	4	4	127	1	0	0	0	0	0	1	0	0	14985	1117	39	1	2302	1	SP140	2	231174675	Nonsense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	34089856	231174675	12024698	18	9450											
CAPN7	23473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	15274030	15274030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttctctttctccaggtgaTaattgatgaccagttacctg	8	16	8	9	0	2	3	0	3	2	0	4	3	2	3	3	1	1	2	3	1	2	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr3:15274030T>C	ENST00000253693.2	+	10	1290	c.1037T>C	c.(1036-1038)aTa>aCa	p.I346T		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	346	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CTCCAGGTGATAATTGATGAC	0.323																																					p.I346T													.	.			0			c.T1037C												95	94	94					3																	15274030		2203	4300	6503	SO:0001583	missense	23473	exon10			AGGTGATAATTGA	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1037T>C	3.37:g.15274030T>C	ENSP00000253693:p.Ile346Thr		90	0	0		61	0.26	16	NM_014296	12	0.58	7		Missense_Mutation	SNP	ENST00000253693.2	37	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066915	0.55539	.	.	ENSG00000131375	ENST00000253693	D	0.89123	-2.47	5.22	5.22	0.72569	Peptidase C2, calpain, catalytic domain (3);	0.046228	0.85682	D	0.000000	D	0.86485	0.5944	L	0.43757	1.38	0.80722	D	1	B	0.25105	0.118	B	0.32149	0.141	D	0.84221	0.0461	10	0.48119	T	0.1	-17.9486	14.7645	0.69629	0.0:0.0:0.0:1.0	.	346	Q9Y6W3	CAN7_HUMAN	T	346	ENSP00000253693:I346T	ENSP00000253693:I346T	I	+	2	0	CAPN7	15249034	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.734000	0.84928	1.966000	0.57179	0.528000	0.53228	ATA			0.323	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252105.2		NM_014296		C	15274030	T	C	15274030	3	2	127	1	0	0	0	0	1	0	0	0	2633	1406	49	4	1075	4	CAPN7	3	15274030	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10		15274030	182748400	19	9451											
MLH1	4292	mdanderson.org	37	chr3	37050329	37050329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccttttttacaacataGccacgaggagaaaagcttta	15	10	8	8	1	0	1	0	0	0	1	0	4	0	2	2	2	4	1	2	2	6	6			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr3:37050329G>T	ENST00000231790.2	+	6	694	c.478G>T	c.(478-480)Gcc>Tcc	p.A160S	MLH1_ENST00000539477.1_Intron|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.A62S|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000455445.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	160					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTACAACATAGCCACGAGGAG	0.383		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.A160S			yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	.	.			1	Whole gene deletion(1)	ovary(1)	c.G478T												99	101	100					3																	37050329		2203	4300	6503	SO:0001583	missense	4292	exon6	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	AACATAGCCACGA	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.478G>T	3.37:g.37050329G>T	ENSP00000231790:p.Ala160Ser		66	0	0		47	0.06	3	NM_000249	40	0	0	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.735764|1.735764	0.30774|0.30774	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176;ENST00000429117|ENST00000456676	D;D;T|.	0.89939|.	-2.59;-2.59;-0.74|.	6.17|6.17	-4.22|-4.22	0.03800|0.03800	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);|.	0.754909|.	0.13232|.	N|.	0.403616|.	T|.	0.17746|.	0.0426|.	N|N	0.02697|0.02697	-0.525|-0.525	0.58432|0.58432	D|D	0.999995|0.999995	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.0;0.001|.	T|.	0.13442|.	-1.0509|.	10|.	0.19147|.	T|.	0.46|.	-0.8016|-0.8016	6.6045|6.6045	0.22718|0.22718	0.2744:0.0:0.3979:0.3278|0.2744:0.0:0.3979:0.3278	.|.	62;160;160|.	E9PCU2;Q53GX1;P40692|.	.;.;MLH1_HUMAN|.	S|Y	160;126;126;24;62;62|151	ENSP00000231790:A160S;ENSP00000402564:A62S;ENSP00000407019:A62S|.	ENSP00000231790:A160S|.	A|X	+|+	1|3	0|2	MLH1|MLH1	37025333|37025333	0.832000|0.832000	0.29368|0.29368	0.851000|0.851000	0.33527|0.33527	0.957000|0.957000	0.61999|0.61999	-0.100000|-0.100000	0.10990|0.10990	-1.099000|-1.099000	0.03034|0.03034	-1.599000|-1.599000	0.00816|0.00816	GCC|TAG			0.383	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253337.2		NM_000249		T	37050329	G	T	37050329	3	4	127	1	0	0	0	0	1	0	0	0	9633	971	34	2	500	2	MLH1	3	37050329	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	21776299	37050329	160972101	20	9452											
LAMB2	3913	mdanderson.org	37	chr3	49167754	49167754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgcccagctgtgttatGctgacatccatcacacacac	9	9	9	14	1	1	1	1	1	0	0	2	1	2	1	2	1	2	3	2	1	1	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr3:49167754G>T	ENST00000418109.1	-	10	1299	c.1135C>A	c.(1135-1137)Cat>Aat	p.H379N	LAMB2_ENST00000305544.4_Missense_Mutation_p.H379N	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	379	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)	p.H379Y(1)		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)		GCTGTGTTATGCTGACATCCA	0.597																																					p.H379N													LAMB2,NS,carcinoma,0,1	LAMB2	0	1	1	Substitution - Missense(1)	lung(1)	c.C1135A												114	95	101					3																	49167754		2203	4300	6503	SO:0001583	missense	3913	exon9			TGTTATGCTGACA		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.1135C>A	3.37:g.49167754G>T	ENSP00000388325:p.His379Asn		86	0	0		124	0.04	5	NM_002292	30	0	0	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799599	0.90538	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.64085	-0.08;-0.08	5.17	5.17	0.71159	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.76938	2.355	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81143	-0.1067	10	0.51188	T	0.08	.	18.6406	0.91394	0.0:0.0:1.0:0.0	.	379	P55268	LAMB2_HUMAN	N	379	ENSP00000388325:H379N;ENSP00000307156:H379N	ENSP00000307156:H379N	H	-	1	0	LAMB2	49142758	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.805000	0.99149	2.553000	0.86117	0.591000	0.81541	CAT			0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345939.1		NM_002292		T	49167754	G	T	49167754	3	4	127	1	0	0	0	0	1	0	0	0	8626	1319	46	2	4357	2	LAMB2	3	49167754	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	12117425	49167754	148854676	21	9453											
NISCH	11188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	52492745	52492745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataattgggaaaaactcaaGaagcttggtggagaagaggg	16	7	15	3	0	1	3	1	0	0	3	1	6	1	4	0	4	2	1	0	4	6	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr3:52492745G>C	ENST00000479054.1	+	4	317	c.245G>C	c.(244-246)aGa>aCa	p.R82T	NISCH_ENST00000488380.1_Missense_Mutation_p.R82T|NISCH_ENST00000345716.4_Missense_Mutation_p.R82T|NISCH_ENST00000420808.2_Missense_Mutation_p.R82T			Q9Y2I1	NISCH_HUMAN	nischarin	82	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)	AAAAACTCAAGAAGCTTGGTG	0.483																																					p.R82T													.	.			0			c.G245C												71	75	73					3																	52492745		2203	4300	6503	SO:0001583	missense	11188	exon3			ACTCAAGAAGCTT	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.245G>C	3.37:g.52492745G>C	ENSP00000418232:p.Arg82Thr		87	0	0		152	0.24	37	NM_001276293	70	0.27	19	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578509	0.28180	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000488380;ENST00000420808	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.7	2.54	0.30619	Phox homologous domain (5);	0.164087	0.52532	D	0.000072	T	0.31606	0.0802	N	0.16790	0.44	0.38388	D	0.945318	D;D	0.76494	0.999;0.994	D;P	0.72982	0.979;0.873	T	0.11891	-1.0569	10	0.34782	T	0.22	-6.2075	6.7606	0.23538	0.4227:0.0:0.5772:0.0	.	82;82	Q9Y2I1;C9J715	NISCH_HUMAN;.	T	82	ENSP00000418232:R82T;ENSP00000339958:R82T;ENSP00000417812:R82T;ENSP00000392484:R82T	ENSP00000339958:R82T	R	+	2	0	NISCH	52467785	1.000000	0.71417	0.547000	0.28179	0.993000	0.82548	2.550000	0.45811	0.769000	0.33313	0.655000	0.94253	AGA			0.483	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351357.1		NM_007184		C	52492745	G	C	52492745	3	2	127	1	0	0	0	0	1	0	0	0	10449	942	33	5	255	5	NISCH	3	52492745	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	3324991	52492745	145529685	22	9454											
WFS1	7466	broad.mit.edu	37	chr4	6296878	6296878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgaagatgatgacgagctgGcggggaagagccctgaggac	12	4	17	8	3	0	5	0	3	0	2	0	9	0	7	1	4	2	1	1	4	2	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr4:6296878G>T	ENST00000226760.1	+	7	993	c.823G>T	c.(823-825)Gcg>Tcg	p.A275S	WFS1_ENST00000503569.1_Missense_Mutation_p.A275S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	275					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)		TGACGAGCTGGCGGGGAAGAG	0.622																																					p.A275S													.	WFS1	71		0			c.G823T												68	62	64					4																	6296878		2203	4300	6503	SO:0001583	missense	7466	exon7			GAGCTGGCGGGGA	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.823G>T	4.37:g.6296878G>T	ENSP00000226760:p.Ala275Ser		53	0	0		32	0.09	3	NM_001145853	22	0	0	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	CCDS3386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.714405|2.714405	0.48622|0.48622	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000503569;ENST00000226760|ENST00000506362	D;D|.	0.94092|.	-3.35;-3.35|.	4.35|4.35	3.49|3.49	0.39957|0.39957	.|.	0.289177|.	0.32386|.	N|.	0.006164|.	T|T	0.57257|0.57257	0.2041|0.2041	L|L	0.44542|0.44542	1.39|1.39	0.39274|0.39274	D|D	0.964432|0.964432	B|.	0.13145|.	0.007|.	B|.	0.17098|.	0.017|.	T|T	0.55503|0.55503	-0.8131|-0.8131	10|5	0.17369|.	T|.	0.5|.	-7.077|-7.077	12.7382|12.7382	0.57236|0.57236	0.0:0.0:0.835:0.165|0.0:0.0:0.835:0.165	.|.	275|.	O76024|.	WFS1_HUMAN|.	S|C	275|152	ENSP00000423337:A275S;ENSP00000226760:A275S|.	ENSP00000226760:A275S|.	A|W	+|+	1|3	0|0	WFS1|WFS1	6347779|6347779	1.000000|1.000000	0.71417|0.71417	0.844000|0.844000	0.33320|0.33320	0.905000|0.905000	0.53344|0.53344	6.614000|6.614000	0.74197|0.74197	0.783000|0.783000	0.33636|0.33636	0.462000|0.462000	0.41574|0.41574	GCG|TGG			0.622	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206863.1				T	6296878	G	T	6296878	3	4	127	1	0	0	0	0	1	0	0	0	17384	1203	42	2	845	2	WFS1	4	6296878	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		6296878	184857398	23	9455											
FRYL	285527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	48597656	48597656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatattgagaggtgtgtcaCgaggaaccacacttcgtgag	12	10	12	7	2	1	2	1	2	0	1	2	5	1	3	1	2	1	0	1	2	3	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr4:48597656C>T	ENST00000503238.1	-	12	1198	c.1199G>A	c.(1198-1200)cGt>cAt	p.R400H	FRYL_ENST00000507711.1_Missense_Mutation_p.R400H|FRYL_ENST00000537810.1_Missense_Mutation_p.R400H|FRYL_ENST00000506685.1_Missense_Mutation_p.R106H|FRYL_ENST00000264319.7_De_novo_Start_OutOfFrame|FRYL_ENST00000358350.4_Missense_Mutation_p.R400H			O94915	FRYL_HUMAN	FRY-like	400					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						AGGTGTGTCACGAGGAACCAC	0.373																																					p.R400H													.	.			0			c.G1199A												91	82	85					4																	48597656		1862	4099	5961	SO:0001583	missense	285527	exon15			GTGTCACGAGGAA	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.1199G>A	4.37:g.48597656C>T	ENSP00000426064:p.Arg400His		253	0	0		203	0.37	75	NM_015030	11	0.36	4	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	36	5.754230	0.96890	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.65732	1.83;1.83;1.83;-0.17	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.64402	U	0.000003	T	0.80507	0.4636	M	0.76574	2.34	0.80722	D	1	D;P	0.76494	0.999;0.944	D;P	0.78314	0.991;0.674	T	0.79629	-0.1724	10	0.54805	T	0.06	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	400;400	F2Z2S2;O94915	.;FRYL_HUMAN	H	400;400;400;400;106	ENSP00000426064:R400H;ENSP00000351113:R400H;ENSP00000441114:R400H;ENSP00000421584:R400H	ENSP00000351113:R400H	R	-	2	0	FRYL	48292413	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.834000	0.97654	0.650000	0.86243	CGT			0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000369265.2				T	48597656	C	T	48597656	3	4	127	1	0	0	0	0	1	0	0	0	6077	536	19	1	8042	1	FRYL	4	48597656	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	42300778	48597656	142556620	24	9456											
NIPBL	25836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	37044488	37044488	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatctgcaatgttgcaaaaAtcctagagctagttgtacca	13	13	7	8	0	1	1	0	0	1	1	2	1	2	1	2	0	4	6	2	0	7	6			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr5:37044488A>T	ENST00000282516.8	+	35	6647	c.6148A>T	c.(6148-6150)Atc>Ttc	p.I2050F	NIPBL_ENST00000448238.2_Missense_Mutation_p.I2050F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2050					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)			TGTTGCAAAAATCCTAGAGCT	0.343																																					p.I2050F													NIPBL_ENST00000448238,neck,malignant_melanoma,-2,2	NIPBL_ENST00000448238	-2	2	0			c.A6148T												84	82	82					5																	37044488		2203	4300	6503	SO:0001583	missense	25836	exon35			GCAAAAATCCTAG	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.6148A>T	5.37:g.37044488A>T	ENSP00000282516:p.Ile2050Phe		159	0	0		133	0.41	54	NM_015384	115	0.5	58	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.870102	0.91587	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65916	-0.18;-0.18	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78136	0.4236	M	0.72894	2.215	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.72982	0.952;0.979	T	0.80885	-0.1182	10	0.87932	D	0	-5.3744	15.7982	0.78428	1.0:0.0:0.0:0.0	.	2050;2050	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	F	2050	ENSP00000282516:I2050F;ENSP00000406266:I2050F	ENSP00000282516:I2050F	I	+	1	0	NIPBL	37080245	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.958000	0.93099	2.124000	0.65301	0.477000	0.44152	ATC			0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207582.1		NM_015384		T	37044488	A	T	37044488	3	4	127	1	0	0	0	0	1	0	0	0	10445	101	4	5	6282	5	NIPBL	5	37044488	Missense_Mutation	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10		37044488	143870772	25	9457											
EGFLAM	133584	mdanderson.org	37	chr5	38427181	38427181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactccctggccactggaGccccagcattacctttcctt	7	10	7	17	0	0	0	0	0	0	0	2	1	2	1	6	2	4	2	6	2	2	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr5:38427181G>T	ENST00000354891.3	+	14	2227	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D	EGFLAM_ENST00000336740.6_Missense_Mutation_p.E393D|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.E627D|EGFLAM_ENST00000397202.2_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	627	Laminin G-like 2. {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)					GGCCACTGGAGCCCCAGCATT	0.483																																					p.E627D	Colon(62;485 1295 3347 17454)												.	.			0			c.G1881T												158	155	156					5																	38427181		2203	4300	6503	SO:0001583	missense	133584	exon14			ACTGGAGCCCCAG	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.1881G>T	5.37:g.38427181G>T	ENSP00000346964:p.Glu627Asp		74	0	0		33	0.09	3	NM_001205301	10	0	0	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	8.789	0.930184	0.18131	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.69175	-0.38;-0.38;-0.38	5.63	1.84	0.25277	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.521229	0.21675	N	0.070805	T	0.51517	0.1679	L	0.38531	1.155	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.005;0.004;0.005	T	0.34279	-0.9835	10	0.27082	T	0.32	-9.7112	8.7196	0.34432	0.5114:0.0:0.4886:0.0	.	393;627;627	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	D	627;627;393;393	ENSP00000346964:E627D;ENSP00000313084:E627D;ENSP00000337607:E393D	ENSP00000313084:E627D	E	+	3	2	EGFLAM	38462938	0.939000	0.31865	1.000000	0.80357	0.792000	0.44763	0.252000	0.18278	0.330000	0.23485	0.563000	0.77884	GAG			0.483	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000367323.1		NM_152403		T	38427181	G	T	38427181	3	4	127	1	0	0	0	0	1	0	0	0	4971	962	34	2	1949	2	EGFLAM	5	38427181	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	1382693	38427181	142488079	26	9458											
SEMA6A	57556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	115837930	115837930	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcaatgtagagggttccgTtcatgatcataatcatctgg	11	12	10	8	1	4	2	3	1	1	1	5	2	5	2	1	2	1	4	1	2	3	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr5:115837930T>A	ENST00000343348.6	-	3	981	c.194A>T	c.(193-195)aAc>aTc	p.N65I	SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000257414.8_Missense_Mutation_p.N65I|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.N65I	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	65	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		GAGGGTTCCGTTCATGATCAT	0.488																																					p.N65I													.	.			0			c.A194T												235	234	234					5																	115837930		2036	4187	6223	SO:0001583	missense	57556	exon3			GTTCCGTTCATGA	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.194A>T	5.37:g.115837930T>A	ENSP00000345512:p.Asn65Ile		186	0	0		147	0.15	22	NM_020796	246	0.32	79	Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230176	0.79688	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.284333	0.41001	D	0.000969	T	0.35248	0.0925	M	0.79805	2.47	0.80722	D	1	P;P	0.52842	0.956;0.864	D;P	0.68192	0.956;0.905	T	0.11842	-1.0571	10	0.62326	D	0.03	.	15.2197	0.73303	0.0:0.0:0.0:1.0	.	65;65	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	I	65	ENSP00000345512:N65I;ENSP00000257414:N65I;ENSP00000424388:N65I;ENSP00000421935:N65I;ENSP00000425553:N65I	ENSP00000257414:N65I	N	-	2	0	SEMA6A	115865829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.876000	0.63079	2.082000	0.62665	0.528000	0.53228	AAC			0.488	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371270.1		NM_020796		A	115837930	T	A	115837930	3	1	127	1	0	0	0	0	1	0	0	0	14062	1725	60	5	2966	5	SEMA6A	5	115837930	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	77410749	115837930	65077330	27	9459											
AFF4	27125	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	132232477	132232479	+	In_Frame_Del	DEL	CTT	CTT	-																															cgaggggaagacttagactcCttctttatattgggtttcct																										TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	CTT	CTT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr5:132232477_132232479delCTT	ENST00000265343.5	-	11	2222_2224	c.1843_1845delAAG	c.(1843-1845)aagdel	p.K615del	AFF4_ENST00000378595.3_In_Frame_Del_p.K615del	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	615					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTTAGACTCCTTCTTTATATTG	0.433																																					p.615_616del	Ovarian(126;889 1733 2942 10745 11605)												.	.			0			c.1844_1846del																																									SO:0001651	inframe_deletion	27125	exon11			AGACTCCTTCTTT	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1843_1845delAAG	5.37:g.132232480_132232482delCTT	ENSP00000265343:p.Lys615del		136	0	0		105	0.36	38	NM_014423	64	0	0	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	In_Frame_Del	DEL	ENST00000265343.5	37	CCDS4164.1																																																																																					0.433	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000133049.1		NM_014423		-	132232479	CTT	-	132232477	7	5	127	1	0	1	0	1	0	0	0	0	359	680	24	0	1690	0	AFF4	5	132232477	In_Frame_Del	DEL	CTT	TCGA-XY-A8S2-01A-11D-A435-10	16394547	132232477	48682783	28	9460											
KDM3B	51780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	137762705	137762705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccaatggtgctcaaaCtcaaggactggcctcctggg	9	7	13	12	0	2	0	2	0	0	0	3	1	3	1	3	5	3	2	3	5	3	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr5:137762705C>T	ENST00000314358.5	+	18	4653	c.4453C>T	c.(4453-4455)Ctc>Ttc	p.L1485F	KDM3B_ENST00000542866.1_Missense_Mutation_p.L517F|KDM3B_ENST00000394866.1_Missense_Mutation_p.L1141F	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1485					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						GGTGCTCAAACTCAAGGACTG	0.493																																					p.L1485F													.	.			0			c.C4453T												82	80	80					5																	137762705		2203	4300	6503	SO:0001583	missense	51780	exon18			CTCAAACTCAAGG	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.4453C>T	5.37:g.137762705C>T	ENSP00000326563:p.Leu1485Phe		77	0	0		61	0.28	17	NM_016604	245	0.44	108	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126470	0.77549	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72615	-0.67;-0.67;-0.67	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.85336	0.5673	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	D	0.87441	0.2395	10	0.87932	D	0	-8.6727	10.2244	0.43216	0.0:0.8774:0.0:0.1226	.	1141;1485	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	F	1485;1275;1141;517	ENSP00000326563:L1485F;ENSP00000378335:L1141F;ENSP00000439462:L517F	ENSP00000326563:L1485F	L	+	1	0	KDM3B	137790604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.225000	0.32551	2.485000	0.83878	0.655000	0.94253	CTC			0.493	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373597.1		NM_016604		T	137762705	C	T	137762705	3	4	127	1	0	0	0	0	1	0	0	0	8142	565	20	3	4523	3	KDM3B	5	137762705	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	5530228	137762705	43152555	29	9461											
TNIP1	10318	mdanderson.org	37	chr5	150444639	150444639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtcgtagatccggtaCggtcctctcccttccatgag	6	10	11	14	3	1	2	0	1	1	1	6	2	4	2	5	3	1	2	5	3	2	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr5:150444639C>T	ENST00000389378.2	-	2	606	c.18G>A	c.(16-18)ccG>ccA	p.P6P	TNIP1_ENST00000518977.1_Silent_p.P6P|TNIP1_ENST00000521591.1_Silent_p.P6P|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000524280.1_Silent_p.P6P|TNIP1_ENST00000523338.1_Silent_p.P6P|TNIP1_ENST00000522226.1_Silent_p.P6P|TNIP1_ENST00000523200.1_Silent_p.P6P|TNIP1_ENST00000315050.7_Silent_p.P6P	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	6					defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATCCGGTACGGTCCTCTCC	0.617																																					p.P6P													.	.			0			c.G18A												72	63	66					5																	150444639		2203	4300	6503	SO:0001819	synonymous_variant	10318	exon2			CCGGTACGGTCCT	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.18G>A	5.37:g.150444639C>T			60	0	0		39	0.08	3	NM_001252385	48	0	0	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	37	CCDS34280.1																																																																																					0.617	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374914.1		NM_006058		T	150444639	C	T	150444639	2	4	127	1	0	0	0	0	0	0	0	1	16337	523	19	1		1	TNIP1	5	150444639	Silent	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	12681934	150444639	30470621	30	9462											
DOK3	79930	hgsc.bcm.edu;bcgsc.ca	37	chr5	176936846	176936848	+	In_Frame_Del	DEL	CGA	CGA	-																															ctgatcgcagtctggctcccCgagtcatgagttcccgcccc																								rs558150906		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	CGA	CGA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr5:176936846_176936848delCGA	ENST00000357198.4	-	1	10_12	c.6_8delTCG	c.(4-9)actcgg>acg	p.R3del	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000501403.2_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	3					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCTGGCTCCCCGAGTCATGAGTT	0.704																																					p.3_3del													.	.			0			c.7_9del																																									SO:0001651	inframe_deletion	79930	exon1			GCTCCCCGAGTCA	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.6_8delTCG	5.37:g.176936846_176936848delCGA	ENSP00000349727:p.Arg3del		66	0	0		42	0.33	14	NM_024872	0		0	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	In_Frame_Del	DEL	ENST00000357198.4	37	CCDS4426.1																																																																																					0.704	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000253420.4		NM_024872		-	176936848	CGA	-	176936846	7	5	127	1	0	1	0	1	0	0	0	0	4703	652	23	0	1858	0	DOK3	5	176936846	In_Frame_Del	DEL	CGA	TCGA-XY-A8S2-01A-11D-A435-10	26492207	176936846	3978414	31	9463											
WRNIP1	56897	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	2770515	2770515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgactattttaatgcgagcGatcaactccctgggaatcca	11	11	9	10	2	1	1	1	1	0	0	3	4	3	2	2	1	3	0	2	1	4	3	rs148604433		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr6:2770515G>A	ENST00000380773.4	+	3	1385	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	WRNIP1_ENST00000380764.1_Silent_p.A8A|WRNIP1_ENST00000380771.4_Silent_p.A367A|WRNIP1_ENST00000380769.4_Silent_p.A172A	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TAATGCGAGCGATCAACTCCC	0.532																																					p.A392A													.	.			0			c.G1176A							G	,	1,4405	2.1+/-5.4	0,1,2202	126	116	119		1176,1101	-8.1	0.8	6	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WRNIP1	NM_020135.2,NM_130395.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	392/666,367/641	2770515	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56897	exon3			GCGAGCGATCAAC	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1176G>A	6.37:g.2770515G>A			89	0	0		100	0.06	6	NM_020135	214	0.07	14		Silent	SNP	ENST00000380773.4	37	CCDS4475.1																																																																																			0		0.532	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039641.1		NM_130395		A	2770515	G	A	2770515	2	1	127	1	0	0	0	0	0	0	0	1	17427	1045	37	1		1	WRNIP1	6	2770515	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		2770515	168344552	32	9464											
HIST1H2AD	3013	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	26199104	26199105	+	Frame_Shift_Del	DEL	CT	CT	-																															tgcccttggccttgtggtgaCtctcagtcttcttggggagc																										TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	CT	CT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr6:26199104_26199105delCT	ENST00000341023.1	-	1	366_367	c.367_368delAG	c.(367-369)agtfs	p.S123fs	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	123						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				CTTGTGGTGACTCTCAGTCTTC	0.48																																					p.123_123del													.	.			0			c.368_369del								,	16,4248		8,0,2124					,	0.6	1			107	16,8238		7,2,4118	no	frameshift,utr-5	HIST1H2AD,HIST1H3D	NM_021065.2,NM_003530.3	,	15,2,6242	A1A1,A1R,RR		0.1938,0.3752,0.2556	,	,		32,12486				SO:0001589	frameshift_variant	3013	exon1			TGGTGACTCTCAG	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"Histones / Replication-dependent"	4729	protein-coding gene	gene with protein product		602792	"H2A histone family, member G", "histone 1, H2ad"	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.367_368delAG	6.37:g.26199106_26199107delCT	ENSP00000341094:p.Ser123fs		249	0	0		260	0.28	73	NM_021065	1	0	0	A0PK91|P57754|Q6FGY6	Frame_Shift_Del	DEL	ENST00000341023.1	37	CCDS4591.1																																																																																					0.48	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040100.1		NM_021065		-	26199105	CT	-	26199104	7	5	127	1	0	1	0	1	0	0	0	0	7146	565	20	0	28	0	HIST1H2AD	6	26199104	Frame_Shift_Del	DEL	CT	TCGA-XY-A8S2-01A-11D-A435-10	23428589	26199104	144915963	33	9465											
HIST1H3H	8357	broad.mit.edu	37	chr6	27777859	27777859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctctgaaggcatggcgcGtacgaagcagactgctcgca	10	7	13	11	4	1	2	0	1	1	1	2	3	1	2	0	2	4	6	0	2	4	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr6:27777859G>A	ENST00000369163.2	+	1	18	c.8G>A	c.(7-9)cGt>cAt	p.R3H	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	3					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)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GGCATGGCGCGTACGAAGCAG	0.572																																					p.R3H													.	HIST1H3H	25		0			c.G8A												41	45	43					6																	27777859		2200	4298	6498	SO:0001583	missense	8357	exon1			TGGCGCGTACGAA	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"Histones / Replication-dependent"	4775	protein-coding gene	gene with protein product		602818	"H3 histone family, member K", "histone 1, H3h"	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.8G>A	6.37:g.27777859G>A	ENSP00000358160:p.Arg3His		78	0.0128205128	1		93	0.04	4	NM_003536	2	0	0	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	12.11	1.838888	0.32513	.	.	ENSG00000203813	ENST00000369163	T	0.46819	0.86	4.18	3.29	0.37713	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.32017	N	0.601257	.	.	.	.	.	.	T	0.41645	-0.9497	6	0.62326	D	0.03	.	12.9846	0.58583	0.0:0.0:0.8366:0.1634	.	.	.	.	H	3	ENSP00000358160:R3H	ENSP00000358160:R3H	R	+	2	0	HIST1H3H	27885838	0.998000	0.40836	0.473000	0.27253	0.006000	0.05464	7.435000	0.80391	1.030000	0.39839	-0.182000	0.12963	CGT			0.572	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040151.1		NM_003536		A	27777859	G	A	27777859	3	1	127	1	0	0	0	0	1	0	0	0	7177	1145	40	1	10	1	HIST1H3H	6	27777859	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	1578755	27777859	143337208	34	9466											
HIST1H1B	3009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	27834706	27834706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttagcggctttgggctttGccgccttcggcttaactgcc	3	13	12	13	3	0	0	0	0	0	0	1	0	0	0	3	3	4	4	3	3	2	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr6:27834706G>A	ENST00000331442.3	-	1	653	c.602C>T	c.(601-603)gCa>gTa	p.A201V		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	201					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTTGGGCTTTGCCGCCTTCGG	0.547																																					p.A201V													.	.			0			c.C602T												70	66	68					6																	27834706		2203	4300	6503	SO:0001583	missense	3009	exon1			GGCTTTGCCGCCT	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.602C>T	6.37:g.27834706G>A	ENSP00000330074:p.Ala201Val		113	0	0		148	0.21	31	NM_005322	1	0	0	Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209929	0.39003	.	.	ENSG00000184357	ENST00000331442	T	0.20332	2.08	4.94	4.07	0.47477	.	0.368622	0.27109	N	0.020886	T	0.04679	0.0127	N	0.08118	0	0.33644	D	0.607651	B	0.20052	0.041	B	0.12156	0.007	T	0.15065	-1.0450	10	0.62326	D	0.03	-8.882	11.7966	0.52104	0.0876:0.0:0.9124:0.0	.	201	P16401	H15_HUMAN	V	201	ENSP00000330074:A201V	ENSP00000330074:A201V	A	-	2	0	HIST1H1B	27942685	0.938000	0.31826	0.023000	0.16930	0.060000	0.15804	3.475000	0.53136	1.402000	0.46780	0.655000	0.94253	GCA			0.547	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043371.1		NM_005322		A	27834706	G	A	27834706	3	1	127	1	0	0	0	0	1	0	0	0	7138	1319	46	2	82	2	HIST1H1B	6	27834706	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	56847	27834706	143280361	35	9467											
KIAA1949	170954	broad.mit.edu	37	chr6	30652190	30652190	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcttccctacctgttTgtggtgtctttcgggggacc	2	15	13	11	1	1	0	0	0	1	0	3	1	2	1	3	4	2	3	3	4	1	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr6:30652190T>A	ENST00000274853.3	-	1	3482	c.1606A>T	c.(1606-1608)Aaa>Taa	p.K536*	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Nonsense_Mutation_p.K536*	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	536						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCTACCTGTTTGTGGTGTCTT	0.527																																					p.K536X													.	.			0			c.A1606T												55	59	58					6																	30652190		1205	2523	3728	SO:0001587	stop_gained	170954	exon2			CCTGTTTGTGGTG	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1606A>T	6.37:g.30652190T>A	ENSP00000274853:p.Lys536*		101	0.0099009901	1		130	0.2	26	NM_001134870	89	0.04	4	A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Nonsense_Mutation	SNP	ENST00000274853.3	37	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	T	39	7.806801	0.98501	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	.	.	.	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2393	11.4972	0.50415	0.0:0.0:0.0:1.0	.	.	.	.	X	536	.	ENSP00000274853:K536X	K	-	1	0	KIAA1949	30760169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.757000	0.62213	1.909000	0.55274	0.533000	0.62120	AAA			0.527	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076498.2		NM_133471		A	30652190	T	A	30652190	4	1	127	1	0	0	0	0	0	1	0	0	8278	1821	63	5	247	5	KIAA1949	6	30652190	Nonsense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	2817484	30652190	140462877	36	9468											
TJAP1	93643	mdanderson.org	37	chr6	43473096	43473096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaccaccagcccagcccaGcacccctaacactcagtgcc	10	3	5	23	0	1	0	1	0	0	0	1	0	1	0	8	0	5	1	8	0	1	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr6:43473096G>A	ENST00000372445.5	+	11	1553	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000259751.1_Missense_Mutation_p.A383T|TJAP1_ENST00000372444.2_Missense_Mutation_p.A383T|TJAP1_ENST00000438588.2_Missense_Mutation_p.A393T|TJAP1_ENST00000372452.1_Missense_Mutation_p.A383T|TJAP1_ENST00000372449.1_Missense_Mutation_p.A393T|TJAP1_ENST00000436109.2_Missense_Mutation_p.A383T	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	393					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			gcccagcccagcacccctaac	0.682																																					p.A393T													.	.			0			c.G1177A												34	36	35					6																	43473096		2202	4298	6500	SO:0001583	missense	93643	exon10			AGCCCAGCACCCC	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1177G>A	6.37:g.43473096G>A	ENSP00000361522:p.Ala393Thr		16	0	0		19	0.11	2	NM_001146017	121	0	0	Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	3.229	-0.157905	0.06544	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	4.84	0.957	0.19613	.	1.058480	0.07206	N	0.858372	T	0.10937	0.0267	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.30268	-0.9984	9	0.20046	T	0.44	-9.1731	4.2656	0.10761	0.1446:0.2767:0.473:0.1056	.	393;383	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	T	383;393;383;383;383;383;393;393	.	ENSP00000259751:A383T	A	+	1	0	TJAP1	43581074	0.428000	0.25522	0.000000	0.03702	0.153000	0.21895	0.644000	0.24766	0.034000	0.15491	0.655000	0.94253	GCA			0.682	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000040629.1		NM_080604		A	43473096	G	A	43473096	3	1	127	1	0	0	0	0	1	0	0	0	15951	971	34	2	1207	2	TJAP1	6	43473096	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	12820906	43473096	127641971	37	9469											
VEGFA	7422	mdanderson.org	37	chr6	43738965	43738965	+	5'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgagccgcgccggcccCggtcgggcctccgaaaccat	6	3	14	18	8	0	0	0	0	0	0	2	2	1	0	7	3	3	0	7	3	1	0	rs370465512		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr6:43738965C>T	ENST00000523873.1	+	0	20				VEGFA_ENST00000425836.2_Silent_p.P174P|VEGFA_ENST00000372064.4_Silent_p.P174P|VEGFA_ENST00000372067.3_Silent_p.P174P|VEGFA_ENST00000457104.2_5'Flank|VEGFA_ENST00000523950.1_5'UTR|VEGFA_ENST00000413642.3_Silent_p.P174P|VEGFA_ENST00000520948.1_5'UTR|VEGFA_ENST00000372055.4_Silent_p.P174P|VEGFA_ENST00000482630.2_Silent_p.P174P|VEGFA_ENST00000230480.6_5'Flank|VEGFA_ENST00000324450.6_Silent_p.P174P|VEGFA_ENST00000518689.1_5'Flank|VEGFA_ENST00000372077.4_5'UTR|VEGFA_ENST00000417285.2_Silent_p.P174P|RP1-261G23.7_ENST00000607600.1_RNA|VEGFA_ENST00000523125.1_5'Flank|VEGFA_ENST00000518824.1_5'Flank			P15692	VEGFA_HUMAN	vascular endothelial growth factor A						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)	GCGCCGGCCCCGGTCGGGCCT	0.701																																					p.P174P													.	.			0			c.C522T												15	17	16					6																	43738965		1340	3038	4378	SO:0001623	5_prime_UTR_variant	7422	exon1			CGGCCCCGGTCGG	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.-19C>T	6.37:g.43738965C>T			15	0	0		27	0.11	3	NM_001204385	39	0	0	B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Silent	SNP	ENST00000523873.1	37	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	c	9.414	1.081354	0.20309	.	.	ENSG00000112715	ENST00000519767	.	.	.	3.52	1.68	0.24146	.	.	.	.	.	T	0.43942	0.1270	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	-20.4283	9.5319	0.39198	0.0:0.6011:0.3989:0.0	.	.	.	.	W	146	.	.	R	+	1	2	VEGFA	43846943	0.993000	0.37304	1.000000	0.80357	0.945000	0.59286	0.197000	0.17197	0.204000	0.20548	-0.560000	0.04181	CGG			0.701	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000374460.1		NM_001025366		T	43738965	C	T	43738965	1	4	127	0	1	0	0	0	0	0	0	0	17174	639	23	1		1	VEGFA	6	43738965	5'UTR	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	265869	43738965	127376102	38	9470											
KIAA1009	22832	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	84862439	84862439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgctgtccagggttcCagggaaggagttagcatttc	8	11	13	9	0	0	0	0	0	0	0	3	2	2	2	2	3	3	5	2	3	2	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr6:84862439C>T	ENST00000403245.3	-	23	3568	c.3454G>A	c.(3454-3456)Gga>Aga	p.G1152R	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.G1076R	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCCAGGGTTCCAGGGAAGGAG	0.408																																					p.G1152R													.	.			0			c.G3454A												86	83	84					6																	84862439		2203	4300	6503	SO:0001583	missense	22832	exon23			GGGTTCCAGGGAA																												ENST00000403245.3:c.3454G>A	6.37:g.84862439C>T	ENSP00000385215:p.Gly1152Arg		149	0	0		141	0.06	8	NM_014895	11	0	0		Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601246	0.28534	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.17854	2.25;2.25	5.6	5.6	0.85130	.	0.466636	0.21682	N	0.070706	T	0.18676	0.0448	M	0.69823	2.125	0.09310	N	1	D	0.56746	0.977	P	0.53760	0.734	T	0.18650	-1.0330	10	0.19147	T	0.46	-11.9247	15.1502	0.72692	0.0:0.9303:0.0:0.0697	.	1152	Q5TB80	QN1_HUMAN	R	1076;1152	ENSP00000257766:G1076R;ENSP00000385215:G1152R	ENSP00000257766:G1076R	G	-	1	0	KIAA1009	84919158	0.936000	0.31750	0.110000	0.21437	0.050000	0.14768	2.081000	0.41596	2.806000	0.96561	0.552000	0.68991	GGA			0.408	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317315.1				T	84862439	C	T	84862439	3	4	127	1	0	0	0	0	1	0	0	0	8218	603	21	3	777	3	KIAA1009	6	84862439	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	41123474	84862439	86252628	39	9471											
ABCB5	340273	broad.mit.edu	37	chr7	20687234	20687234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaaccttcgcaatagcccGaggagctgcctttcatattt	10	12	8	11	2	1	1	1	1	0	0	2	3	1	2	3	1	4	2	3	1	4	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr7:20687234G>A	ENST00000404938.2	+	10	1710	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000406935.1_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	353					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						GCAATAGCCCGAGGAGCTGCC	0.378																																					p.R353Q													.	ABCB5	357		0			c.G1058A												77	67	70					7																	20687234		1564	3581	5145	SO:0001583	missense	340273	exon10			TAGCCCGAGGAGC	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.1058G>A	7.37:g.20687234G>A	ENSP00000384881:p.Arg353Gln		87	0	0		155	0.03	4	NM_001163941	0		0	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829190	0.71258	.	.	ENSG00000004846	ENST00000404938	T	0.80566	-1.39	4.09	3.21	0.36854	.	.	.	.	.	D	0.82852	0.5127	L	0.49571	1.57	0.80722	D	1	D	0.65815	0.995	P	0.60886	0.88	T	0.79923	-0.1598	9	0.28530	T	0.3	.	11.4473	0.50131	0.091:0.0:0.909:0.0	.	353	A7BKA4	.	Q	353	ENSP00000384881:R353Q	ENSP00000384881:R353Q	R	+	2	0	ABCB5	20653759	0.999000	0.42202	1.000000	0.80357	0.602000	0.36980	8.881000	0.92415	1.328000	0.45358	-0.136000	0.14681	CGA			0.378	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000326736.2		NM_178559		A	20687234	G	A	20687234	3	1	127	1	0	0	0	0	1	0	0	0	44	1058	37	1	1092	1	ABCB5	7	20687234	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		20687234	138451429	40	9472											
SP4	6671	broad.mit.edu	37	chr7	21468306	21468306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgttgcagatcagaagaagGaggaggaggaggaggcggca	13	5	19	4	1	1	3	1	0	0	3	1	8	1	8	0	7	1	3	0	7	2	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr7:21468306G>A	ENST00000222584.3	+	2	237	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	7	Poly-Glu.				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						TCAGAAGAAGGAGGAGGAGGA	0.512																																					p.E7K													SP4,colon,carcinoma,0,1	SP4	91	1	0			c.G19A												20	20	20					7																	21468306		2171	4251	6422	SO:0001583	missense	6671	exon2			AAGAAGGAGGAGG		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.19G>A	7.37:g.21468306G>A	ENSP00000222584:p.Glu7Lys		39	0.0256410256	1		63	0.06	4	NM_003112	8	0	0	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318989	0.41096	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	T	0.09911	2.93	4.5	4.5	0.54988	.	0.061123	0.64402	N	0.000005	T	0.10937	0.0267	L	0.36672	1.1	0.44142	D	0.996934	P	0.34587	0.458	B	0.39152	0.292	T	0.20907	-1.0261	10	0.23891	T	0.37	.	12.5742	0.56355	0.0:0.0:1.0:0.0	.	7	Q02446	SP4_HUMAN	K	7	ENSP00000222584:E7K	ENSP00000222584:E7K	E	+	1	0	SP4	21434831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.555000	0.73928	2.345000	0.79718	0.563000	0.77884	GAG			0.512	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211617.2		NM_003112		A	21468306	G	A	21468306	3	1	127	1	0	0	0	0	1	0	0	0	14989	1175	41	3	25	3	SP4	7	21468306	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	781072	21468306	137670357	41	9473											
STK31	56164	bcgsc.ca;mdanderson.org	37	chr7	23776556	23776556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttggtgactttaatttaggGtctaacgtcagcctggaaaa	11	13	11	6	1	2	1	1	1	1	0	2	2	2	2	1	3	2	1	1	3	5	6			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr7:23776556G>T	ENST00000355870.3	+	8	995	c.876G>T	c.(874-876)ggG>ggT	p.G292G	STK31_ENST00000354639.3_Silent_p.G269G|STK31_ENST00000433467.2_Silent_p.G292G|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.G269G	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	292						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						TTAATTTAGGGTCTAACGTCA	0.333																																					p.G292G													.	STK31	175		0			c.G876T												83	84	84					7																	23776556		2203	4300	6503	SO:0001819	synonymous_variant	56164	exon8			TTTAGGGTCTAAC	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.876G>T	7.37:g.23776556G>T			60	0	0		87	0.06	5	NM_031414	2	0	0	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																					0.333	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214036.2		NM_031414		T	23776556	G	T	23776556	2	4	127	1	0	0	0	0	0	0	0	1	15319	1248	44	3		3	STK31	7	23776556	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	2308250	23776556	135362107	42	9474											
FAM188B	84182	mdanderson.org	37	chr7	30868345	30868345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtgagctgggtgcccTgcggctcggtaggtgcagcg	4	8	20	9	3	0	1	0	1	0	0	1	2	0	2	1	6	5	4	1	6	1	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr7:30868345T>C	ENST00000265299.6	+	6	1201	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	375										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGGTGCCCTGCGGCTCGGT	0.572																																					p.L375P													.	.			0			c.T1124C												125	130	128					7																	30868345		2032	4189	6221	SO:0001583	missense	84182	exon6			GTGCCCTGCGGCT	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1124T>C	7.37:g.30868345T>C	ENSP00000265299:p.Leu375Pro		23	0	0		47	0.06	3	NM_032222	11	0	0	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292695	0.40594	.	.	ENSG00000106125	ENST00000265299	T	0.12569	2.67	3.3	3.3	0.37823	.	0.343431	0.23740	N	0.045031	T	0.11665	0.0284	L	0.52573	1.65	0.38989	D	0.959101	P	0.36599	0.56	B	0.31547	0.132	T	0.08554	-1.0716	10	0.87932	D	0	-29.8809	8.3607	0.32357	0.0:0.0:0.0:1.0	.	375	Q4G0A6	F188B_HUMAN	P	375	ENSP00000265299:L375P	ENSP00000265299:L375P	L	+	2	0	FAM188B	30834870	0.760000	0.28428	0.130000	0.21974	0.008000	0.06430	3.093000	0.50217	1.741000	0.51731	0.455000	0.32223	CTG			0.572	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327962.1		NM_032222		C	30868345	T	C	30868345	3	2	127	1	0	0	0	0	1	0	0	0	5525	1580	55	4	1146	4	FAM188B	7	30868345	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	7091789	30868345	128270318	43	9475											
OR2AE1	81392	mdanderson.org	37	chr7	99474221	99474221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccaaccatgacatgaCagccatcatcagtcccacct	11	7	5	18	0	2	2	2	2	0	0	3	2	3	2	6	0	3	0	6	0	1	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr7:99474221C>T	ENST00000316368.2	-	1	459	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CATGACATGACAGCCATCATC	0.498																																					p.V146I													.	.			0			c.G436A												147	136	140					7																	99474221		2203	4300	6503	SO:0001583	missense	81392	exon1			ACATGACAGCCAT	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.436G>A	7.37:g.99474221C>T	ENSP00000313936:p.Val146Ile		36	0	0		48	0.06	3	NM_001005276	1	0	0	B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	C	2.987	-0.209003	0.06140	.	.	ENSG00000244623	ENST00000316368	T	0.37915	1.17	3.49	-0.562	0.11781	GPCR, rhodopsin-like superfamily (1);	1.566430	0.04304	N	0.347859	T	0.25419	0.0618	N	0.25957	0.775	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.22103	-1.0226	10	0.38643	T	0.18	.	5.5604	0.17140	0.0:0.5011:0.3062:0.1927	.	146	Q8NHA4	O2AE1_HUMAN	I	146	ENSP00000313936:V146I	ENSP00000313936:V146I	V	-	1	0	OR2AE1	99312157	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.775000	0.04679	-0.118000	0.11851	0.390000	0.25778	GTC			0.498	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345053.1				T	99474221	C	T	99474221	3	4	127	1	0	0	0	0	1	0	0	0	11000	478	17	3	539	3	OR2AE1	7	99474221	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	68605876	99474221	59664442	44	9476											
ZC3HC1	51530	broad.mit.edu	37	chr7	129664141	129664141	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtggcatcctggctccGggtcatcatcctccgaggag	8	8	13	12	2	2	0	2	0	0	0	6	3	6	1	4	4	0	2	4	4	1	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr7:129664141G>T	ENST00000358303.4	-	7	1066	c.982C>A	c.(982-984)Cgg>Agg	p.R328R	RNA5SP245_ENST00000364239.1_RNA|RP11-306G20.1_ENST00000587038.1_RNA|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Silent_p.R328R|ZC3HC1_ENST00000481503.1_Silent_p.R285R|ZC3HC1_ENST00000311873.5_Silent_p.R307R	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	328					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)					TCCTGGCTCCGGGTCATCATC	0.537																																					p.R328R	Melanoma(115;540 1606 16325 28853 48167)												.	ZC3HC1	45		0			c.C982A												68	70	69					7																	129664141		2203	4300	6503	SO:0001819	synonymous_variant	51530	exon7			GGCTCCGGGTCAT	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.982C>A	7.37:g.129664141G>T			49	0	0		67	0.04	3	NM_016478	182	0	0	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Silent	SNP	ENST00000358303.4	37	CCDS34753.1																																																																																					0.537	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349316.1		NM_016478		T	129664141	G	T	129664141	2	4	127	1	0	0	0	0	0	0	0	1	17600	1115	39	1		1	ZC3HC1	7	129664141	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	30189920	129664141	29474522	45	9477											
ZNF862	643641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	149545019	149545019	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagtcgtggtttgtgcAgtttccgtggctgatcatga	7	13	13	8	2	1	3	1	2	0	1	3	3	2	3	2	2	1	4	2	2	1	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr7:149545019A>C	ENST00000223210.4	+	4	682	c.437A>C	c.(436-438)cAg>cCg	p.Q146P		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	146					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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TGGTTTGTGCAGTTTCCGTGG	0.537																																					p.Q146P													.	.			0			c.A437C												41	42	42					7																	149545019		1972	4155	6127	SO:0001583	missense	643641	exon4			TTGTGCAGTTTCC	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.437A>C	7.37:g.149545019A>C	ENSP00000223210:p.Gln146Pro		72	0	0		109	0.13	14	NM_001099220	5	0	0	A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055663	0.55325	.	.	ENSG00000106479	ENST00000223210;ENST00000460379	T	0.01215	5.16	5.28	5.28	0.74379	Zinc finger, TTF-type (1);	0.135912	0.33916	N	0.004436	T	0.02688	0.0081	M	0.65975	2.015	0.30415	N	0.778665	P	0.48911	0.917	P	0.46049	0.502	T	0.06661	-1.0814	10	0.87932	D	0	-10.1768	11.6405	0.51230	1.0:0.0:0.0:0.0	.	146	O60290	ZN862_HUMAN	P	146;62	ENSP00000223210:Q146P	ENSP00000223210:Q146P	Q	+	2	0	ZNF862	149175952	0.998000	0.40836	0.982000	0.44146	0.365000	0.29674	3.598000	0.54038	2.008000	0.58898	0.533000	0.62120	CAG			0.537	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350165.1		NM_001099220		C	149545019	A	C	149545019	3	2	127	1	0	0	0	0	1	0	0	0	18218	188	7	4	451	4	ZNF862	7	149545019	Missense_Mutation	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	19880878	149545019	9593644	46	9478											
ABCF2	10061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	150912779	150912779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtagcacttcatcatgtactCcaaaggtgagagatctaagt	13	11	9	8	0	3	2	2	1	1	1	4	3	4	2	1	1	2	3	1	1	4	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr7:150912779C>G	ENST00000287844.2	-	13	1550	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.E481Q	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	481	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCATGTACTCCAAAGGTGAG	0.473																																					p.E481Q													.	.			0			c.G1441C												169	147	154					7																	150912779		2203	4300	6503	SO:0001583	missense	10061	exon13			TGTACTCCAAAGG	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1441G>C	7.37:g.150912779C>G	ENSP00000287844:p.Glu481Gln		115	0	0		187	0.13	24	NM_005692	266	0.19	50	O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974550	0.92919	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.95137	-3.62;-3.62	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.043866	0.85682	D	0.000000	D	0.91372	0.7278	N	0.20881	0.62	0.80722	D	1	B;B	0.29232	0.149;0.238	B;B	0.35353	0.201;0.201	D	0.88349	0.2980	10	0.33940	T	0.23	-8.9641	18.9739	0.92728	0.0:1.0:0.0:0.0	.	481;481	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	Q	481	ENSP00000222388:E481Q;ENSP00000287844:E481Q	ENSP00000222388:E481Q	E	-	1	0	ABCF2	150543712	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.237000	0.78164	2.706000	0.92434	0.655000	0.94253	GAG			0.473	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336086.1		NM_005692		G	150912779	C	G	150912779	3	3	127	1	0	0	0	0	1	0	0	0	66	864	30	5	483	5	ABCF2	7	150912779	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	1367760	150912779	8225884	47	9479											
CHPF2	54480	broad.mit.edu	37	chr7	150931207	150931207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcctggatccagggggAgggagaagatccctgtgtcg	7	9	17	8	1	0	2	0	0	0	2	4	5	3	4	3	5	0	1	3	5	1	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr7:150931207A>G	ENST00000035307.2	+	1	1623	c.110A>G	c.(109-111)gAg>gGg	p.E37G	CHPF2_ENST00000495645.1_Missense_Mutation_p.E29G	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	37					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)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATCCAGGGGGAGGGAGAAGAT	0.607																																					p.E37G													CHPF2,bladder,carcinoma,0,1	CHPF2	52	1	0			c.A110G												69	73	71					7																	150931207		2203	4300	6503	SO:0001583	missense	54480	exon1			AGGGGGAGGGAGA	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.110A>G	7.37:g.150931207A>G	ENSP00000035307:p.Glu37Gly		99	0.0101010101	1		139	0.04	5	NM_019015	84	0	0	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945917	0.53079	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.27890	1.64;1.66	5.07	5.07	0.68467	.	0.164731	0.53938	D	0.000059	T	0.16342	0.0393	N	0.14661	0.345	0.46725	D	0.999178	B;B	0.12013	0.0;0.005	B;B	0.08055	0.0;0.003	T	0.09975	-1.0650	10	0.25751	T	0.34	-23.2909	7.6487	0.28336	0.9048:0.0:0.0952:0.0	.	37;29	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	G	29;37;37	ENSP00000418914:E29G;ENSP00000035307:E37G	ENSP00000035307:E37G	E	+	2	0	CHPF2	150562140	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.563000	0.60823	1.907000	0.55213	0.379000	0.24179	GAG			0.607	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348648.2		NM_019015		G	150931207	A	G	150931207	3	3	127	1	0	0	0	0	1	0	0	0	3371	304	11	4	112	4	CHPF2	7	150931207	Missense_Mutation	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	18428	150931207	8207456	48	9480											
CDCA2	157313	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr8	25344851	25344851	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacttctaacagaagaaatGtaagtgtttgtgtttggcac	12	13	11	5	0	1	2	0	0	1	2	1	3	1	3	0	2	1	4	0	2	4	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr8:25344851G>A	ENST00000330560.3	+	12	2010		c.e12+1		CDCA2_ENST00000380665.3_Splice_Site|CDCA2_ENST00000521098.2_Splice_Site	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2						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)		CAGAAGAAATGTAAGTGTTTG	0.323																																					.													.	.			0			c.1533+1G>A												137	136	137					8																	25344851		2203	4300	6503	SO:0001630	splice_region_variant	157313	exon12			AGAAATGTAAGTG	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.1533+1G>A	8.37:g.25344851G>A			78	0	0		70	0.13	9	NM_152562	0		0	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Splice_Site	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916411	0.73098	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5945	0.76569	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDCA2	25400768	0.973000	0.33851	0.756000	0.31282	0.885000	0.51271	4.489000	0.60309	2.826000	0.97356	0.655000	0.94253	.			0.323	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216891.3		NM_152562	Intron	A	25344851	G	A	25344851	5	1	127	1	0	0	0	0	0	0	1	0	3088	1391	48	3	1576	3	CDCA2	8	25344851	Splice_Site	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		25344851	121019171	49	9481											
VPS13B	157680	broad.mit.edu;mdanderson.org	37	chr8	100523425	100523425	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaaatgtccgccacaagTtaacatcaagaaatgagcga	19	6	7	9	2	1	2	1	1	0	1	2	3	2	2	2	0	2	1	2	0	7	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr8:100523425T>G	ENST00000358544.2	+	29	4504	c.4393T>G	c.(4393-4395)Tta>Gta	p.L1465V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1440V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1465					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)			CCGCCACAAGTTAACATCAAG	0.393																																					p.L1465V	Colon(161;2205 2542 7338 31318)												.	VPS13B	811		0			c.T4393G												124	126	125					8																	100523425		2203	4300	6503	SO:0001583	missense	157680	exon29			CACAAGTTAACAT	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.4393T>G	8.37:g.100523425T>G	ENSP00000351346:p.Leu1465Val		106	0	0		72	0.06	4	NM_017890	4	0	0	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.426981	0.62733	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.56776	0.44;0.44	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000009	T	0.62060	0.2397	L	0.44542	1.39	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.997	D;D;D	0.78314	0.92;0.99;0.991	T	0.61292	-0.7092	10	0.41790	T	0.15	.	10.4043	0.44248	0.0:0.0835:0.0:0.9165	.	1464;1440;1465	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	V	1440;1465	ENSP00000349685:L1440V;ENSP00000351346:L1465V	ENSP00000349685:L1440V	L	+	1	2	VPS13B	100592601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.032000	0.49736	2.155000	0.67459	0.477000	0.44152	TTA			0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000277138.1		NM_184042		G	100523425	T	G	100523425	3	3	127	1	0	0	0	0	1	0	0	0	17214	1722	60	4	4697	4	VPS13B	8	100523425	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	75178574	100523425	45840597	50	9482											
COL14A1	7373	broad.mit.edu	37	chr8	121322273	121322273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggactccgaggaccaaAgggccagcaaggtgaaccgg	12	3	14	12	2	0	1	0	1	0	0	2	4	2	3	5	5	2	1	5	5	3	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr8:121322273A>G	ENST00000297848.3	+	37	4697	c.4427A>G	c.(4426-4428)aAg>aGg	p.K1476R	COL14A1_ENST00000247781.3_Missense_Mutation_p.K1381R|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1476R	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)			CGAGGACCAAAGGGCCAGCAA	0.433																																					p.K1476R													.	COL14A1	292		0			c.A4427G												150	134	139					8																	121322273		2203	4300	6503	SO:0001583	missense	7373	exon37			GACCAAAGGGCCA		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.4427A>G	8.37:g.121322273A>G	ENSP00000297848:p.Lys1476Arg		97	0	0		104	0.03	3	NM_021110	105	0	0		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	6.313	0.425918	0.11987	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.94232	-3.38;-3.38;-3.38	4.8	4.8	0.61643	.	0.048102	0.85682	D	0.000000	D	0.90310	0.6969	N	0.12920	0.275	0.80722	D	1	P	0.50272	0.933	P	0.56960	0.81	D	0.87121	0.2191	10	0.10377	T	0.69	.	13.4694	0.61273	1.0:0.0:0.0:0.0	.	1476	Q05707	COEA1_HUMAN	R	1476;1476;1381	ENSP00000311809:K1476R;ENSP00000297848:K1476R;ENSP00000247781:K1381R	ENSP00000247781:K1381R	K	+	2	0	COL14A1	121391454	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.475000	0.60210	2.023000	0.59567	0.454000	0.30748	AAG			0.433	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313657.2		NM_021110		G	121322273	A	G	121322273	3	3	127	1	0	0	0	0	1	0	0	0	3673	72	3	4	4569	4	COL14A1	8	121322273	Missense_Mutation	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	20798848	121322273	25041749	51	9483											
DENND4C	55667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	19346326	19346326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgaggaaagccaagaaCtccttgagcctgtggttgat	10	11	12	8	0	0	4	0	3	0	1	1	5	1	5	3	2	4	2	3	2	3	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr9:19346326C>T	ENST00000380432.2	+	18	2737	c.2704C>T	c.(2704-2706)Ctc>Ttc	p.L902F	DENND4C_ENST00000434457.2_Missense_Mutation_p.L1187F|DENND4C_ENST00000602925.1_Missense_Mutation_p.L1138F			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	902					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						AAGCCAAGAACTCCTTGAGCC	0.443																																					p.L1138F													.	.			0			c.C3412T												114	110	111					9																	19346326		2203	4300	6503	SO:0001583	missense	55667	exon22			CAAGAACTCCTTG	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.2704C>T	9.37:g.19346326C>T	ENSP00000369797:p.Leu902Phe		65	0	0		90	0.31	28	NM_017925	45	0.29	13	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	C	2.353	-0.348340	0.05208	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.23348	1.91;1.91	5.81	2.83	0.33086	.	1.257830	0.05163	N	0.498262	T	0.26846	0.0657	L	0.44542	1.39	0.26630	N	0.972482	P;P;P;B	0.44380	0.828;0.547;0.834;0.412	B;B;B;B	0.43783	0.431;0.347;0.221;0.084	T	0.16247	-1.0409	10	0.52906	T	0.07	6.6013	5.2684	0.15611	0.1172:0.6354:0.1134:0.134	.	232;902;84;902	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	F	902;375;84;232;375;84	ENSP00000305795:L375F;ENSP00000443804:L232F	ENSP00000305795:L375F	L	+	1	0	DENND4C	19336326	0.187000	0.23238	0.259000	0.24435	0.168000	0.22595	0.762000	0.26503	0.302000	0.22762	0.650000	0.86243	CTC			0.443	DENND4C-201	KNOWN	basic	protein_coding	protein_coding				NM_017925		T	19346326	C	T	19346326	3	4	127	1	0	0	0	0	1	0	0	0	4440	565	20	3	2774	3	DENND4C	9	19346326	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10		19346326	121867105	52	9484											
MELK	9833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	36657333	36657333	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagatgatttatcaacAggtgctgctactccccgaac	11	11	9	10	1	1	3	1	2	0	1	2	4	2	3	2	1	5	2	2	1	5	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr9:36657333A>C	ENST00000298048.2	+	13	1333	c.1149A>C	c.(1147-1149)acA>acC	p.T383T	MELK_ENST00000536329.1_Silent_p.T312T|MELK_ENST00000536860.1_Silent_p.T335T|MELK_ENST00000538311.1_Silent_p.T189T|MELK_ENST00000543751.1_Silent_p.T351T|MELK_ENST00000536987.1_Silent_p.T252T|MELK_ENST00000541717.1_Intron|MELK_ENST00000545008.1_Silent_p.T312T	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	383	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			ATTTATCAACAGGTGCTGCTA	0.358																																					p.T383T	Ovarian(82;980 1317 7225 14391 18624)												MELK,right_lower_lobe,carcinoma,+2,1	MELK	2	1	0			c.A1149C												127	126	126					9																	36657333		2203	4300	6503	SO:0001819	synonymous_variant	9833	exon13			ATCAACAGGTGCT	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1149A>C	9.37:g.36657333A>C			71	0	0		106	0.3	32	NM_014791	110	0.39	43	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	CCDS6606.1																																																																																					0.358	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052428.3		NM_014791		C	36657333	A	C	36657333	2	2	127	1	0	0	0	0	0	0	0	1	9486	175	7	4		4	MELK	9	36657333	Silent	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	17311007	36657333	104556098	53	9485											
TRAF2	7186	mdanderson.org	37	chr9	139811054	139811054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcagattccacgccatcgGctgcctcgagacggtgagtc	7	9	12	13	4	0	3	0	1	0	2	4	4	1	3	3	2	2	2	3	2	0	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr9:139811054G>A	ENST00000247668.2	+	7	717	c.665G>A	c.(664-666)gGc>gAc	p.G222D	TRAF2_ENST00000359662.3_Missense_Mutation_p.G274D|TRAF2_ENST00000536468.1_Missense_Mutation_p.G222D|TRAF2_ENST00000482854.1_3'UTR	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	222				Missing (in Ref. 2; BAB70792). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CACGCCATCGGCTGCCTCGAG	0.582																																					p.G222D													.	.			0			c.G665A												129	104	112					9																	139811054		2203	4300	6503	SO:0001583	missense	7186	exon7			CCATCGGCTGCCT	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.665G>A	9.37:g.139811054G>A	ENSP00000247668:p.Gly222Asp		35	0	0		31	0.1	3	NM_021138	66	0	0	A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898753	0.72639	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662	T;T;T	0.69175	-0.38;-0.38;-0.38	4.74	4.74	0.60224	Zinc finger, TRAF-type (1);	0.000000	0.85682	D	0.000000	D	0.84857	0.5565	M	0.88775	2.98	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	0.88177	0.2868	10	0.72032	D	0.01	-44.3374	18.0766	0.89428	0.0:0.0:1.0:0.0	.	211;197;222	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	D	222;221;222;274	ENSP00000446414:G222D;ENSP00000247668:G222D;ENSP00000352685:G274D	ENSP00000247668:G222D	G	+	2	0	TRAF2	138930875	1.000000	0.71417	0.989000	0.46669	0.294000	0.27393	8.515000	0.90548	2.337000	0.79520	0.462000	0.41574	GGC			0.582	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055166.1		NM_021138		A	139811054	G	A	139811054	3	1	127	1	0	0	0	0	1	0	0	0	16462	1203	42	2	687	2	TRAF2	9	139811054	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	103153721	139811054	1402377	54	9486											
DCLRE1C	64421	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr10	14976452	14976454	+	In_Frame_Del	DEL	ACA	ACA	-																															ccgctttgcagttcagccacAcaacatggtacgggctccga																										TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	ACA	ACA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr10:14976452_14976454delACA	ENST00000378278.2	-	8	640_642	c.603_605delTGT	c.(601-606)gttgtg>gtg	p.201_202VV>V	DCLRE1C_ENST00000378249.1_In_Frame_Del_p.86_87VV>V|DCLRE1C_ENST00000378246.2_In_Frame_Del_p.86_87VV>V|DCLRE1C_ENST00000378255.1_In_Frame_Del_p.81_82VV>V|DCLRE1C_ENST00000396817.2_In_Frame_Del_p.81_82VV>V|DCLRE1C_ENST00000357717.2_In_Frame_Del_p.86_87VV>V|DCLRE1C_ENST00000453695.2_In_Frame_Del_p.81_82VV>V|DCLRE1C_ENST00000378254.1_In_Frame_Del_p.81_82VV>V|DCLRE1C_ENST00000378258.1_In_Frame_Del_p.81_82VV>V|DCLRE1C_ENST00000378289.4_In_Frame_Del_p.201_202VV>V			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	201					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						GTTCAGCCACACAACATGGTACG	0.448								Non-homologous end-joining																													p.202_202del													.	.			0			c.604_606del																																									SO:0001651	inframe_deletion	64421	exon8			AGCCACACAACAT	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.603_605delTGT	10.37:g.14976455_14976457delACA	ENSP00000367527:p.Val202del		215	0	0		178	0.29	51	NM_001033855	7	0	0	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	In_Frame_Del	DEL	ENST00000378278.2	37	CCDS31149.1																																																																																					0.448	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046934.1		NM_022487		-	14976454	ACA	-	14976452	7	5	127	1	0	1	0	1	0	0	0	0	4298	159	6	0	1501	0	DCLRE1C	10	14976452	In_Frame_Del	DEL	ACA	TCGA-XY-A8S2-01A-11D-A435-10		14976452	120558295	55	9487											
FZD8	8325	mdanderson.org	37	chr10	35928341	35928341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccgaccgccacgtcaGgccagtgctgacgtcgctgt	5	7	13	16	6	1	1	1	1	0	0	2	2	1	1	4	1	2	2	4	1	0	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr10:35928341G>T	ENST00000374694.1	-	1	2021	c.2017C>A	c.(2017-2019)Ctg>Atg	p.L673M	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	673					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						CGCCACGTCAGGCCAGTGCTG	0.781																																					p.L673M													.	.			0			c.C2017A												4	5	4					10																	35928341		1502	3282	4784	SO:0001583	missense	8325	exon1			ACGTCAGGCCAGT	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.2017C>A	10.37:g.35928341G>T	ENSP00000363826:p.Leu673Met		35	0	0		22	0.09	2	NM_031866	0		0		Missense_Mutation	SNP	ENST00000374694.1	37	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587626	0.66105	.	.	ENSG00000177283	ENST00000374694	D	0.89196	-2.48	3.5	1.6	0.23607	.	0.000000	0.53938	U	0.000052	D	0.88636	0.6490	L	0.29908	0.895	0.37004	D	0.895414	D	0.76494	0.999	D	0.83275	0.996	D	0.87220	0.2253	10	0.41790	T	0.15	.	8.7242	0.34458	0.2685:0.0:0.7315:0.0	.	673	Q9H461	FZD8_HUMAN	M	673	ENSP00000363826:L673M	ENSP00000363826:L673M	L	-	1	2	FZD8	35968347	.	.	1.000000	0.80357	0.978000	0.69477	.	.	0.814000	0.34374	0.449000	0.29647	CTG			0.781	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047575.2		NM_031866		T	35928341	G	T	35928341	3	4	127	1	0	0	0	0	1	0	0	0	6149	991	35	3	71	3	FZD8	10	35928341	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	20951889	35928341	99606406	56	9488											
SLIT1	6585	mdanderson.org	37	chr10	98791382	98791382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcgcagggagcggaGtccctggaaggccaaaggcg	10	2	18	11	3	0	0	0	0	0	0	1	3	1	3	2	6	2	2	2	6	2	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr10:98791382G>T	ENST00000266058.4	-	24	2736	c.2491C>A	c.(2491-2493)Ctc>Atc	p.L831I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.L831I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	831					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)		AGGGAGCGGAGTCCCTGGAAG	0.607																																					p.L831I													.	.			0			c.C2491A												123	94	104					10																	98791382		2140	4195	6335	SO:0001583	missense	6585	exon24			AGCGGAGTCCCTG	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.2491C>A	10.37:g.98791382G>T	ENSP00000266058:p.Leu831Ile		65	0	0		42	0.07	3	NM_003061	4	0	0	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363068	0.61403	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.71934	-0.61;-0.61	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	M	0.91561	3.22	0.80722	D	1	D	0.62365	0.991	D	0.87578	0.998	D	0.90685	0.4608	10	0.87932	D	0	.	17.4125	0.87489	0.0:0.0:1.0:0.0	.	831	O75093	SLIT1_HUMAN	I	831	ENSP00000266058:L831I;ENSP00000360109:L831I	ENSP00000266058:L831I	L	-	1	0	SLIT1	98781372	1.000000	0.71417	0.999000	0.59377	0.252000	0.25951	7.391000	0.79828	2.344000	0.79699	0.313000	0.20887	CTC			0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049636.1		NM_003061		T	98791382	G	T	98791382	3	4	127	1	0	0	0	0	1	0	0	0	14762	1029	36	3	2169	3	SLIT1	10	98791382	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	62863041	98791382	36743365	57	9489											
BLOC1S2	282991	mdanderson.org	37	chr10	102045950	102045950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctcctttgcttcctcagCtgtctccacggcggcatcgt	4	12	10	15	3	2	0	1	0	1	0	6	0	4	0	3	3	2	4	3	3	0	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr10:102045950C>T	ENST00000370372.2	-	2	128	c.76G>A	c.(76-78)Gct>Act	p.A26T	BLOC1S2_ENST00000441611.1_5'UTR|BLOC1S2_ENST00000361832.2_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	26					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		GCTTCCTCAGCTGTCTCCACG	0.577																																					p.A26T													.	.			0			c.G76A												80	68	72					10																	102045950		2203	4300	6503	SO:0001583	missense	282991	exon2			CCTCAGCTGTCTC	AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"Biogenesis of lysosomal organelles complex-1 subunits"	20984	protein-coding gene	gene with protein product	"centrosome protein oncogene", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 2", "BLOC-1 subunit 2"	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.76G>A	10.37:g.102045950C>T	ENSP00000359398:p.Ala26Thr		66	0	0		33	0.09	3	NM_173809	106	0	0	B4DQV2|Q5W040|Q8WUI8	Missense_Mutation	SNP	ENST00000370372.2	37	CCDS7490.1	.	.	.	.	.	.	.	.	.	.	-	36	5.728316	0.96856	.	.	ENSG00000196072	ENST00000358848	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.27053	0.805	0.58432	D	0.999999	D	0.58268	0.982	P	0.48627	0.584	T	0.39800	-0.9596	9	0.30078	T	0.28	-5.5634	18.568	0.91124	0.0:1.0:0.0:0.0	.	26	Q6QNY1	BL1S2_HUMAN	T	26	.	ENSP00000351716:A26T	A	-	1	0	BLOC1S2	102035940	1.000000	0.71417	0.950000	0.38849	0.998000	0.95712	7.419000	0.80179	2.632000	0.89209	0.550000	0.68814	GCT			0.577	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049861.2		NM_173809		T	102045950	C	T	102045950	3	4	127	1	0	0	0	0	1	0	0	0	1449	797	28	2	368	2	BLOC1S2	10	102045950	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	3254568	102045950	33488797	58	9490											
SMC3	9126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	112352948	112352948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttcaacccagctggccCgtgctttcactatggactgt	8	12	9	12	1	2	0	2	0	0	0	2	1	2	1	2	2	3	3	2	2	3	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr10:112352948C>T	ENST00000361804.4	+	18	2056	c.1930C>T	c.(1930-1932)Cgt>Tgt	p.R644C		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	644	Flexible hinge.				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)		CCAGCTGGCCCGTGCTTTCAC	0.353																																					p.R644C													.	.			0			c.C1930T												90	83	85					10																	112352948		2203	4300	6503	SO:0001583	missense	9126	exon18			CTGGCCCGTGCTT	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.1930C>T	10.37:g.112352948C>T	ENSP00000354720:p.Arg644Cys		96	0	0		107	0.43	46	NM_005445	211	0.43	91	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568676	0.65651	.	.	ENSG00000108055	ENST00000361804	D	0.86562	-2.14	5.17	5.17	0.71159	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.94011	0.7284	10	0.87932	D	0	.	12.2607	0.54649	0.2851:0.7149:0.0:0.0	.	644	Q9UQE7	SMC3_HUMAN	C	644	ENSP00000354720:R644C	ENSP00000354720:R644C	R	+	1	0	SMC3	112342938	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	2.800000	0.47900	2.569000	0.86673	0.585000	0.79938	CGT			0.353	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050337.1		NM_005445		T	112352948	C	T	112352948	3	4	127	1	0	0	0	0	1	0	0	0	14807	652	23	1	2000	1	SMC3	10	112352948	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	10306998	112352948	23181799	59	9491											
NRAP	3026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	115349537	115349537	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacctctggtcaggttcAagtctgatttatacttgacc	10	13	7	11	0	4	2	2	2	2	0	4	2	4	2	2	2	2	1	2	2	4	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr10:115349537A>G	ENST00000351270.3	+	0	3009				NRAP_ENST00000369358.4_Missense_Mutation_p.L1667S|NRAP_ENST00000360478.3_Missense_Mutation_p.L1624S|NRAP_ENST00000359988.3_Missense_Mutation_p.L1659S|NRAP_ENST00000369360.3_Missense_Mutation_p.L1632S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GGTCAGGTTCAAGTCTGATTT	0.517																																					p.L1659S													.	.			0			c.T4976C												70	68	69					10																	115349537		2203	4300	6503	SO:0001628	intergenic_variant	4892	exon41			AGGTTCAAGTCTG		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073		10.37:g.115349537A>G			44	0	0		31	0.39	12	NM_001261463	0		0	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.613040	0.87258	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.88775	2.98	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;1.0;1.0;1.0	T	0.79612	-0.1731	10	0.72032	D	0.01	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	781;1659;1624;1659	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	S	1667;1632;1659;1624;781	ENSP00000358365:L1667S;ENSP00000358367:L1632S;ENSP00000353078:L1659S;ENSP00000353666:L1624S	ENSP00000353078:L1659S	L	-	2	0	NRAP	115339527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.499000	0.81566	2.281000	0.76405	0.533000	0.62120	TTG			0.517	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050428.1		NM_004132		G	115349537	A	G	115349537	1	3	127	0	1	0	0	0	0	0	0	0	10655	131	5	4		4	NRAP	10	115349537	IGR	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	2996589	115349537	20185210	60	9492											
TACC2	10579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	123844801	123844801	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagagttctctgacagAagagtcagaattgtcagcac	12	10	12	7	0	3	5	2	1	1	4	4	6	3	5	0	1	1	2	0	1	2	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr10:123844801A>T	ENST00000369005.1	+	4	3126	c.2786A>T	c.(2785-2787)gAa>gTa	p.E929V	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E929V|TACC2_ENST00000515273.1_Missense_Mutation_p.E929V|TACC2_ENST00000453444.2_Missense_Mutation_p.E929V|TACC2_ENST00000334433.3_Missense_Mutation_p.E929V|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	929					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)				TCTCTGACAGAAGAGTCAGAA	0.537																																					p.E929V													.	.			0			c.A2786T												99	100	99					10																	123844801		2203	4300	6503	SO:0001583	missense	10579	exon4			TGACAGAAGAGTC	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.2786A>T	10.37:g.123844801A>T	ENSP00000358001:p.Glu929Val		62	0	0		51	0.31	16	NM_206862	0		0	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	9.592	1.126522	0.20959	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03831	3.8;3.79;3.8;3.8;3.79	4.36	0.603	0.17541	.	0.425847	0.17437	N	0.174263	T	0.03520	0.0101	L	0.32530	0.975	0.09310	N	1	B;B;B	0.26935	0.164;0.164;0.164	B;B;B	0.23852	0.049;0.049;0.049	T	0.39231	-0.9624	10	0.72032	D	0.01	-1.3762	2.9817	0.05955	0.6245:0.0:0.1934:0.1821	.	929;929;929	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	929;929;929;929;929;919	ENSP00000358001:E929V;ENSP00000424467:E929V;ENSP00000427618:E929V;ENSP00000334280:E929V;ENSP00000395048:E929V	ENSP00000334280:E929V	E	+	2	0	TACC2	123834791	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.171000	0.16685	-0.050000	0.13356	0.448000	0.29417	GAA			0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000090004.1				T	123844801	A	T	123844801	3	4	127	1	0	0	0	0	1	0	0	0	15525	246	9	5	2796	5	TACC2	10	123844801	Missense_Mutation	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	8495264	123844801	11689946	61	9493											
BRSK2	9024	mdanderson.org	37	chr11	1475738	1475738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgaagaagtcctggtttgGgaacttcatcagcctggaga	10	9	14	8	1	2	2	2	0	0	2	3	5	3	3	2	4	2	1	2	4	3	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:1475738G>T	ENST00000528841.1	+	16	1952	c.1568G>T	c.(1567-1569)gGg>gTg	p.G523V	BRSK2_ENST00000544817.1_Missense_Mutation_p.G218V|BRSK2_ENST00000531197.1_Missense_Mutation_p.G523V|BRSK2_ENST00000308219.9_Missense_Mutation_p.G523V|BRSK2_ENST00000526678.1_Missense_Mutation_p.G545V|BRSK2_ENST00000528710.1_Missense_Mutation_p.G463V|BRSK2_ENST00000382179.1_Missense_Mutation_p.G569V|BRSK2_ENST00000308230.5_Missense_Mutation_p.G545V			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	523					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCTGGTTTGGGAACTTCATC	0.577																																					p.G569V													.	.			0			c.G1706T												58	65	63					11																	1475738		2024	4189	6213	SO:0001583	missense	9024	exon16			GGTTTGGGAACTT	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1568G>T	11.37:g.1475738G>T	ENSP00000432000:p.Gly523Val		83	0	0		40	0.08	3	NM_001256630	24	0	0	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	CCDS58107.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.297200|4.297200	0.81025|0.81025	.|.	.|.	ENSG00000174672|ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817|ENST00000533606	T;T;T;T;T;T;T;T|.	0.78126|.	-1.07;-1.11;-1.11;-1.15;-1.11;-0.92;-1.06;0.49|.	3.57|3.57	3.57|3.57	0.40892|0.40892	.|.	0.062472|.	0.64402|.	U|.	0.000005|.	T|T	0.75882|0.75882	0.3910|0.3910	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.998;1.0;0.998;0.999;1.0|.	D;D;D;D;D|.	0.79108|.	0.978;0.992;0.978;0.986;0.992|.	T|T	0.79200|0.79200	-0.1901|-0.1901	10|5	0.87932|.	D|.	0|.	.|.	15.3534|15.3534	0.74409|0.74409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	545;569;523;523;523|.	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2|.	.;.;.;BRSK2_HUMAN;.|.	V|C	523;523;545;523;545;463;569;218|61	ENSP00000310697:G523V;ENSP00000431152:G523V;ENSP00000310805:G545V;ENSP00000432000:G523V;ENSP00000433370:G545V;ENSP00000433235:G463V;ENSP00000371614:G569V;ENSP00000445168:G218V|.	ENSP00000310697:G523V|.	G|W	+|+	2|3	0|0	BRSK2|BRSK2	1432314|1432314	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.953000|0.953000	0.61014|0.61014	9.128000|9.128000	0.94424|0.94424	1.849000|1.849000	0.53698|0.53698	0.313000|0.313000	0.20887|0.20887	GGG|TGG			0.577	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000393033.1		NM_003957		T	1475738	G	T	1475738	3	4	127	1	0	0	0	0	1	0	0	0	1526	1232	43	3	1630	3	BRSK2	11	1475738	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		1475738	133530778	62	9494											
STIM1	6786	mdanderson.org	37	chr11	3877621	3877621	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcgggggccaactctGaggagtccactgcagcaggt	8	6	14	13	1	1	1	0	1	1	0	3	2	2	2	3	4	4	3	3	4	1	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:3877621G>T	ENST00000300737.4	+	1	690	c.121G>T	c.(121-123)Gag>Tag	p.E41*	MIR4687_ENST00000583618.1_RNA|STIM1_ENST00000527651.1_Nonsense_Mutation_p.E41*|AC090587.5_ENST00000415809.1_RNA|AC090587.4_ENST00000430222.1_RNA	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	41					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGCCAACTCTGAGGAGTCCAC	0.622																																					p.E41X													.	.			0			c.G121T												68	70	70					11																	3877621		2201	4298	6499	SO:0001587	stop_gained	6786	exon1			AACTCTGAGGAGT	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.121G>T	11.37:g.3877621G>T	ENSP00000300737:p.Glu41*		32	0	0		27	0.11	3	NM_003156	14	0	0	E9PQJ4|Q8N382	Nonsense_Mutation	SNP	ENST00000300737.4	37	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	36	5.630068	0.96671	.	.	ENSG00000167323	ENST00000300737;ENST00000527651	.	.	.	4.49	4.49	0.54785	.	0.232813	0.36167	N	0.002749	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-10.7869	12.5521	0.56231	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000300737:E41X	E	+	1	0	STIM1	3834197	0.998000	0.40836	0.926000	0.36857	0.951000	0.60555	4.202000	0.58446	2.327000	0.79052	0.591000	0.81541	GAG			0.622	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257196.1		NM_003156		T	3877621	G	T	3877621	4	4	127	1	0	0	0	0	0	1	0	0	15306	1291	45	3	123	3	STIM1	11	3877621	Nonsense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	2401883	3877621	131128895	63	9495											
ST5	6764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	8734259	8734259	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcagcatcgactggaTgtggaccaggcgctgtgtgt	6	10	15	10	3	1	0	1	0	0	0	2	3	1	2	1	3	1	3	1	3	0	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:8734259T>G	ENST00000534127.1	-	12	2396	c.2011A>C	c.(2011-2013)Atc>Ctc	p.I671L	ST5_ENST00000526757.1_Missense_Mutation_p.I251L|ST5_ENST00000313726.6_Missense_Mutation_p.I671L|ST5_ENST00000530438.1_Missense_Mutation_p.I251L|ST5_ENST00000357665.1_Missense_Mutation_p.I671L|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.I143L|ST5_ENST00000526099.1_Missense_Mutation_p.I184L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	671					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		ATCGACTGGATGTGGACCAGG	0.612																																					p.I671L													.	.			0			c.A2011C												40	38	38					11																	8734259		2201	4296	6497	SO:0001583	missense	6764	exon12			ACTGGATGTGGAC	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2011A>C	11.37:g.8734259T>G	ENSP00000433528:p.Ile671Leu		37	0	0		34	0.26	9	NM_005418	8	0.38	3	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.869663	0.33069	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527	T;T;T;T;T;T;T;T;T;T	0.31510	2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;1.49;2.97	5.28	5.28	0.74379	.	0.059384	0.64402	D	0.000001	T	0.08088	0.0202	N	0.00321	-1.65	0.41135	D	0.985918	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.002;0.005;0.004	T	0.22871	-1.0204	10	0.16896	T	0.51	-15.5475	9.7095	0.40236	0.0:0.0773:0.0:0.9227	.	184;251;671	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	L	251;671;671;143;671;184;251;143;281;128;143	ENSP00000435097:I251L;ENSP00000433528:I671L;ENSP00000319678:I671L;ENSP00000432887:I143L;ENSP00000350294:I671L;ENSP00000436808:I184L;ENSP00000436802:I251L;ENSP00000433588:I143L;ENSP00000437096:I128L;ENSP00000431580:I143L	ENSP00000319678:I671L	I	-	1	0	ST5	8690835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.338000	0.52128	1.998000	0.58463	0.533000	0.62120	ATC			0.612	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386518.1		NM_005418		G	8734259	T	G	8734259	3	3	127	1	0	0	0	0	1	0	0	0	15243	1464	51	4	1450	4	ST5	11	8734259	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	4856638	8734259	126272257	64	9496											
MED19	219541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57472453	57472453	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggactcaccgggccagTgtggaggcggaagccggcca	10	3	16	12	3	1	0	1	0	0	0	1	3	1	3	4	6	2	0	4	6	2	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:57472453T>G	ENST00000431606.2	-	2	495	c.466A>C	c.(466-468)Act>Cct	p.T156P	MED19_ENST00000337672.2_Missense_Mutation_p.T156P			A0JLT2	MED19_HUMAN	mediator complex subunit 19	156						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						ACCGGGCCAGTGTGGAGGCGG	0.522																																					p.T156P													.	.			0			c.A466C												40	43	42					11																	57472453		2201	4296	6497	SO:0001583	missense	219541	exon2			GGCCAGTGTGGAG	AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.466A>C	11.37:g.57472453T>G	ENSP00000416227:p.Thr156Pro		48	0	0		34	0.35	12	NM_153450	93	0.57	53	Q8IV02|Q8IZD1	Missense_Mutation	SNP	ENST00000431606.2	37		.	.	.	.	.	.	.	.	.	.	T	5.197	0.221953	0.09863	.	.	ENSG00000156603	ENST00000337672;ENST00000431606	.	.	.	5.6	4.47	0.54385	.	0.102460	0.64402	D	0.000002	T	0.29190	0.0726	N	0.21373	0.66	0.49687	D	0.999816	B;B	0.06786	0.0;0.001	B;B	0.11329	0.002;0.006	T	0.17837	-1.0356	9	0.02654	T	1	-22.2694	5.4827	0.16733	0.0:0.1964:0.0:0.8036	.	156;156	A0JLT2-2;A0JLT2	.;MED19_HUMAN	P	156	.	ENSP00000337340:T156P	T	-	1	0	MED19	57229029	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.870000	0.48451	2.132000	0.65825	0.459000	0.35465	ACT			0.522	MED19-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000393702.1		NM_153450		G	57472453	T	G	57472453	3	3	127	1	0	0	0	0	1	0	0	0	9453	1696	59	4	130	4	MED19	11	57472453	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	48738194	57472453	77534063	65	9497											
SCGB1D2	10647	mdanderson.org	37	chr11	62012170	62012170	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaagaaatgtagtgtgtGacatgtaaaaactttcatcc	15	13	8	5	0	1	3	1	2	0	1	2	3	2	3	1	0	1	2	1	0	6	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:62012170G>T	ENST00000244926.3	+	3	370	c.272G>T	c.(271-273)tGa>tTa	p.*91L	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	0						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						TGTAGTGTGTGACATGTAAAA	0.398																																					p.X91L													.	.			0			c.G272T												167	151	157					11																	62012170		2201	4299	6500	SO:0001578	stop_lost	10647	exon3			GTGTGTGACATGT	AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"Secretoglobins"	18396	protein-coding gene	gene with protein product	"prostatein-like lipophilin B", "lipophilin B (uteroglobin family member), prostatein-like"	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.272G>T	11.37:g.62012170G>T	ENSP00000244926:p.*91Leuext*14		46	0	0		50	0.06	3	NM_006551	6	0	0	Q2M3N9	Missense_Mutation	SNP	ENST00000244926.3	37	CCDS8017.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.257987	0.01457	.	.	ENSG00000124935	ENST00000244926	.	.	.	2.66	-5.31	0.02730	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0825	0.00033	0.316:0.1631:0.1962:0.3247	.	.	.	.	L	91	.	.	X	+	2	2	SCGB1D2	61768746	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.266000	0.08631	-1.480000	0.01865	0.313000	0.20887	TGA			0.398	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394859.1		NM_006551		T	62012170	G	T	62012170	4	4	127	1	0	0	0	0	0	0	0	0	13920	1285	45	3	282	3	SCGB1D2	11	62012170	Nonstop_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	4539717	62012170	72994346	66	9498											
ARAP1	116985	broad.mit.edu;mdanderson.org	37	chr11	72438118	72438118	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgtgtactgctccaggTgcaatgcccgcagccactcg	6	7	11	17	3	0	0	0	0	0	0	2	0	1	0	5	1	5	4	5	1	2	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:72438118T>A	ENST00000393609.3	-	3	258	c.56A>T	c.(55-57)cAc>cTc	p.H19L	ARAP1_ENST00000359373.5_Missense_Mutation_p.H19L|ARAP1_ENST00000455638.2_Missense_Mutation_p.H19L	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	19	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTGCTCCAGGTGCAATGCCCG	0.647																																					p.H19L	Ovarian(102;1198 1520 13195 17913 37529)												.	ARAP1	168		0			c.A56T												16	20	19					11																	72438118		2082	4204	6286	SO:0001583	missense	116985	exon3			TCCAGGTGCAATG	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.56A>T	11.37:g.72438118T>A	ENSP00000377233:p.His19Leu		43	0	0		31	0.1	3	NM_001040118	37	0.14	5	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112662	0.77210	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393609	T;T;T	0.49432	0.78;0.78;0.78	4.59	4.59	0.56863	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.071731	0.56097	D	0.000037	T	0.59783	0.2219	M	0.64997	1.995	0.36122	D	0.84555	P;P	0.51791	0.936;0.948	P;P	0.56823	0.708;0.807	T	0.71490	-0.4577	10	0.87932	D	0	.	12.9481	0.58384	0.0:0.0:0.0:1.0	.	19;19	Q96P48-3;Q96P48	.;ARAP1_HUMAN	L	19	ENSP00000352332:H19L;ENSP00000390461:H19L;ENSP00000377233:H19L	ENSP00000352332:H19L	H	-	2	0	ARAP1	72115766	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.419000	0.52728	1.931000	0.55961	0.454000	0.30748	CAC			0.647	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347428.1		NM_001040118		A	72438118	T	A	72438118	3	1	127	1	0	0	0	0	1	0	0	0	838	1696	59	5	4428	5	ARAP1	11	72438118	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	10425948	72438118	62568398	67	9499											
INTS4	92105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	77612564	77612564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttattctccacaccactgtAcatgaattccattttgtagg	10	15	5	11	0	1	1	0	1	1	0	3	1	2	1	3	1	1	2	3	1	4	7			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:77612564A>G	ENST00000534064.1	-	18	2165	c.2131T>C	c.(2131-2133)Tac>Cac	p.Y711H	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.Y86H	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	711					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACACCACTGTACATGAATTCC	0.368																																					p.Y711H													.	.			0			c.T2131C												132	115	121					11																	77612564		2200	4292	6492	SO:0001583	missense	92105	exon18			CACTGTACATGAA	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2131T>C	11.37:g.77612564A>G	ENSP00000434466:p.Tyr711His		136	0	0		132	0.33	43	NM_033547	53	0.49	26	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243736	0.79912	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	L	0.60455	1.87	0.58432	D	0.99999	D	0.65815	0.995	D	0.70487	0.969	T	0.73668	-0.3910	9	0.87932	D	0	-3.4512	12.5095	0.55999	1.0:0.0:0.0:0.0	.	711	Q96HW7	INT4_HUMAN	H	711;86	.	ENSP00000434466:Y711H	Y	-	1	0	INTS4	77290212	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.139000	0.89615	1.936000	0.56123	0.377000	0.23210	TAC			0.368	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390927.1		NM_033547		G	77612564	A	G	77612564	3	3	127	1	0	0	0	0	1	0	0	0	7795	391	14	4	784	4	INTS4	11	77612564	Missense_Mutation	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	5174446	77612564	57393952	68	9500											
FAT3	120114	mdanderson.org	37	chr11	92088566	92088566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcagtatagacgacgaGagtggtaagtgtaatatttt	13	13	12	3	2	1	2	1	0	0	2	1	4	1	2	0	2	0	4	0	2	5	8			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:92088566G>T	ENST00000298047.6	+	1	3305	c.3288G>T	c.(3286-3288)gaG>gaT	p.E1096D	FAT3_ENST00000541502.1_Missense_Mutation_p.E1096D|FAT3_ENST00000525166.1_Missense_Mutation_p.E946D|FAT3_ENST00000409404.2_Missense_Mutation_p.E1096D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1096	Cadherin 10. {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)				TAGACGACGAGAGTGGTAAGT	0.443										TCGA Ovarian(4;0.039)																											p.E1096D													.	.			0			c.G3288T												107	103	104					11																	92088566		2014	4180	6194	SO:0001583	missense	120114	exon1			CGACGAGAGTGGT	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.3288G>T	11.37:g.92088566G>T	ENSP00000298047:p.Glu1096Asp		47	0	0		52	0.08	4	NM_001008781	4	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	4.188	0.033500	0.08101	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51817	4.66;4.66;0.69;4.66	5.56	2.21	0.28008	.	.	.	.	.	T	0.21186	0.0510	N	0.03209	-0.39	0.31392	N	0.677746	B	0.25486	0.127	B	0.26614	0.071	T	0.29181	-1.0020	9	0.14656	T	0.56	.	7.6768	0.28490	0.4241:0.0:0.5759:0.0	.	1096	Q8TDW7-3	.	D	1096;1096;1096;946	ENSP00000298047:E1096D;ENSP00000387040:E1096D;ENSP00000443786:E1096D;ENSP00000432586:E946D	ENSP00000298047:E1096D	E	+	3	2	FAT3	91728214	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	1.496000	0.35638	0.836000	0.34901	0.655000	0.94253	GAG			0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding				NM_001008781		T	92088566	G	T	92088566	3	4	127	1	0	0	0	0	1	0	0	0	5704	933	33	3	3290	3	FAT3	11	92088566	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	14476002	92088566	42917950	69	9501											
EXPH5	23086	hgsc.bcm.edu	37	chr11	108384984	108384984	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacattctgtgaatggtacGattcatatctcttattctcc	11	16	5	9	1	4	1	1	1	3	0	6	2	4	1	1	1	2	1	1	1	5	6	rs115714924	byFrequency	TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:108384984G>T	ENST00000265843.4	-	6	1360	c.1250C>A	c.(1249-1251)tCg>tAg	p.S417*	EXPH5_ENST00000525344.1_Nonsense_Mutation_p.S410*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.S341*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.S229*|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	417					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)		TGAATGGTACGATTCATATCT	0.438																																					p.S417X													.	.			0			c.C1250A												149	154	152					11																	108384984		2201	4298	6499	SO:0001587	stop_gained	23086	exon6			TGGTACGATTCAT		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.1250C>A	11.37:g.108384984G>T	ENSP00000265843:p.Ser417*		97	0	0		96	0.04	4	NM_015065	0		0	Q2KHM1|Q9Y4D6	Nonsense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656229	0.67586	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	.	.	.	5.66	0.391	0.16282	.	0.583594	0.16472	N	0.212916	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.3749	1.5988	0.02669	0.4642:0.2599:0.1501:0.1258	.	.	.	.	X	417;341;229;410;261;341;229	.	ENSP00000265843:S417X	S	-	2	0	EXPH5	107890194	0.364000	0.24997	0.174000	0.22961	0.187000	0.23431	0.827000	0.27421	0.087000	0.17167	-0.339000	0.08088	TCG			0.438	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390279.1		NM_015065		T	108384984	G	T	108384984	4	4	127	1	0	0	0	0	0	1	0	0	5329	1059	37	1	4723	1	EXPH5	11	108384984	Nonsense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	16296418	108384984	26621532	70	9502											
TMPRSS13	84000	mdanderson.org	37	chr11	117772964	117772964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctggttaggattttCtgaatcgcacctcgctctga	7	12	11	11	2	2	2	0	2	2	0	4	3	2	3	2	3	1	4	2	3	2	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr11:117772964C>A	ENST00000524993.1	-	13	1751	c.1694G>T	c.(1693-1695)aGa>aTa	p.R565I	TMPRSS13_ENST00000528626.1_Missense_Mutation_p.R530I	NM_001077263.2	NP_001070731.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	0						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TTAGGATTTTCTGAATCGCAC	0.582																																					p.R565I													.	.			0			c.G1694T												45	51	49					11																	117772964		2006	4184	6190	SO:0001583	missense	84000	exon13			GATTTTCTGAATC	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000524993.1:c.1694G>T	11.37:g.117772964C>A	ENSP00000434279:p.Arg565Ile		26	0	0		28	0.11	3	NM_001077263	1	0	0	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000524993.1	37	CCDS41721.1	.	.	.	.	.	.	.	.	.	.	C	9.120	1.008812	0.19199	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993	D;D	0.88741	-2.4;-2.42	3.57	0.636	0.17729	.	1.707770	0.03320	N	0.191843	T	0.80491	0.4633	N	0.08118	0	0.80722	D	1	B;B	0.32693	0.38;0.226	B;B	0.37304	0.193;0.246	T	0.66752	-0.5844	10	0.72032	D	0.01	.	5.8215	0.18530	0.0:0.6465:0.0:0.3535	.	560;565	E9PHM4;E9PRA0	.;.	I	530;560;565	ENSP00000435813:R530I;ENSP00000434279:R565I	ENSP00000337113:R560I	R	-	2	0	TMPRSS13	117278174	0.976000	0.34144	0.987000	0.45799	0.050000	0.14768	-0.040000	0.12104	0.144000	0.18951	0.467000	0.42956	AGA			0.582	TMPRSS13-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000392317.1		NM_032046		A	117772964	C	A	117772964	3	1	127	1	0	0	0	0	1	0	0	0	16268	913	32	3	13	3	TMPRSS13	11	117772964	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	9387980	117772964	17233552	71	9503											
DYRK4	8798	broad.mit.edu	37	chr12	4721824	4721824	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgaggaaatccaattccTttttcccctctgagacaagg	10	11	7	13	0	1	2	0	2	1	1	4	4	4	3	5	2	0	0	5	2	3	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr12:4721824T>C	ENST00000540757.2	+	12	1421	c.1261T>C	c.(1261-1263)Ttt>Ctt	p.F421L	DYRK4_ENST00000545342.1_Missense_Mutation_p.F58L|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Missense_Mutation_p.F421L|DYRK4_ENST00000543431.1_Missense_Mutation_p.F421L	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	421						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)			ATCCAATTCCTTTTTCCCCTC	0.542																																					p.F421L													.	DYRK4	75		0			c.T1261C												114	104	107					12																	4721824		2203	4300	6503	SO:0001583	missense	8798	exon12			AATTCCTTTTTCC	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.1261T>C	12.37:g.4721824T>C	ENSP00000441755:p.Phe421Leu		94	0	0		208	0.02	4	NM_003845	171	0	0	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	CCDS8530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.806|0.806	-0.753704|-0.753704	0.03041|0.03041	.|.	.|.	ENSG00000010219|ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342|ENST00000544671	T;T;T;T;T|.	0.62498|.	0.03;0.02;0.02;0.03;1.03|.	5.06|5.06	-1.09|-1.09	0.09904|0.09904	Protein kinase-like domain (1);|.	1.075440|.	0.07061|.	N|.	0.833662|.	T|T	0.22437|0.22437	0.0541|0.0541	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.12013|.	0.005;0.0;0.0;0.0|.	B;B;B;B|.	0.13407|.	0.009;0.0;0.0;0.0|.	T|T	0.29852|0.29852	-0.9998|-0.9998	10|5	0.11182|.	T|.	0.66|.	.|.	6.6901|6.6901	0.23165|0.23165	0.5157:0.0:0.1235:0.3608|0.5157:0.0:0.1235:0.3608	.|.	536;135;421;421|.	F5H6L9;B4E1A4;Q9NR20-2;Q9NR20|.	.;.;.;DYRK4_HUMAN|.	L|P	536;421;421;421;58|82	ENSP00000437534:F536L;ENSP00000441755:F421L;ENSP00000010132:F421L;ENSP00000439697:F421L;ENSP00000446005:F58L|.	ENSP00000010132:F421L|.	F|L	+|+	1|2	0|0	DYRK4|DYRK4	4592085|4592085	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.952000|-0.952000	0.03881|0.03881	-0.352000|-0.352000	0.08237|0.08237	-0.291000|-0.291000	0.09656|0.09656	TTT|CTT			0.542	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000398780.2				C	4721824	T	C	4721824	3	2	127	1	0	0	0	0	1	0	0	0	4863	1609	56	4	1299	4	DYRK4	12	4721824	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10		4721824	129130071	72	9504											
GDF3	9573	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	7848063	7848063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatttccttaccttggtCtgggagaaagcgaagtacat	10	13	9	9	1	2	1	0	0	2	1	3	3	3	1	2	2	3	1	2	2	5	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr12:7848063C>A	ENST00000329913.3	-	1	309	c.262G>T	c.(262-264)Gac>Tac	p.D88Y		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	88					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.D88N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTACCTTGGTCTGGGAGAAAG	0.498																																					p.D88Y													GDF3,NS,malignant_melanoma,0,1	GDF3	0	1	1	Substitution - Missense(1)	skin(1)	c.G262T												76	79	78					12																	7848063		2203	4300	6503	SO:0001583	missense	9573	exon1			CTTGGTCTGGGAG	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.262G>T	12.37:g.7848063C>A	ENSP00000331745:p.Asp88Tyr		67	0.0149253731	1		232	0.15	34	NM_020634	5025	0.1	512	Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455851	0.63401	.	.	ENSG00000184344	ENST00000329913	T	0.67345	-0.26	3.98	3.98	0.46160	Transforming growth factor-beta, N-terminal (1);	0.108662	0.64402	D	0.000011	T	0.80834	0.4699	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83377	0.0010	10	0.72032	D	0.01	.	11.9498	0.52948	0.0:1.0:0.0:0.0	.	88	Q9NR23	GDF3_HUMAN	Y	88	ENSP00000331745:D88Y	ENSP00000331745:D88Y	D	-	1	0	GDF3	7739330	1.000000	0.71417	0.121000	0.21740	0.912000	0.54170	4.348000	0.59379	1.937000	0.56155	0.313000	0.20887	GAC			0.498	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399717.1				A	7848063	C	A	7848063	3	1	127	1	0	0	0	0	1	0	0	0	6329	913	32	3	840	3	GDF3	12	7848063	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	3126239	7848063	126003832	73	9505											
HOXC4	3221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr12	54448769	54448769	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatcgagatcgcccactCgctgtgcctctctgagaggc	8	8	12	13	3	1	2	0	1	1	2	5	5	1	3	2	2	1	1	2	2	1	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr12:54448769C>A	ENST00000430889.2	+	2	621	c.575C>A	c.(574-576)tCg>tAg	p.S192*	HOXC4_ENST00000303406.4_Nonsense_Mutation_p.S192*|HOXC4_ENST00000609810.1_Nonsense_Mutation_p.S192*	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	192					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						ATCGCCCACTCGCTGTGCCTC	0.522																																					p.S192X													.	.			0			c.C575A												48	44	45					12																	54448769		2203	4300	6503	SO:0001587	stop_gained	3221	exon4			CCCACTCGCTGTG		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.575C>A	12.37:g.54448769C>A	ENSP00000399808:p.Ser192*		119	0	0		145	0.26	38	NM_014620	0		0		Nonsense_Mutation	SNP	ENST00000430889.2	37	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081945	0.76528	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	.	.	.	3.85	3.85	0.44370	.	0.149515	0.44902	D	0.000418	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	15.0798	0.72106	0.0:1.0:0.0:0.0	.	.	.	.	X	192	.	ENSP00000305973:S192X	S	+	2	0	HOXC4	52735036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.568000	0.82369	2.139000	0.66308	0.448000	0.29417	TCG			0.522	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358963.1				A	54448769	C	A	54448769	4	1	127	1	0	0	0	0	0	1	0	0	7328	893	31	1	581	1	HOXC4	12	54448769	Nonsense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	46600706	54448769	79403126	74	9506											
PA2G4	5036	broad.mit.edu;mdanderson.org	37	chr12	56501389	56501389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctacgcctggtcaaacctGgaaatcaggtaagctatttt	11	11	8	11	1	2	0	2	0	0	0	2	1	2	1	3	3	3	2	3	3	5	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr12:56501389G>A	ENST00000303305.6	+	5	897	c.478G>A	c.(478-480)Gga>Aga	p.G160R	RP11-603J24.17_ENST00000548595.1_RNA|RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.G141R|PA2G4_ENST00000552766.1_Missense_Mutation_p.G160R	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	160					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)			GGTCAAACCTGGAAATCAGGT	0.448																																					p.G160R													.	PA2G4	24		0			c.G478A												73	70	71					12																	56501389		2203	4300	6503	SO:0001583	missense	5036	exon5			AAACCTGGAAATC	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.478G>A	12.37:g.56501389G>A	ENSP00000302886:p.Gly160Arg		27	0	0		57	0.07	4	NM_006191	1437	0	7	O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467414	0.84533	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.71	4.82	0.62117	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.93475	0.7918	H	0.94306	3.52	0.80722	D	1	P;D;D	0.56968	0.769;0.973;0.978	B;P;P	0.61592	0.142;0.891;0.854	D	0.94831	0.7996	10	0.87932	D	0	.	13.4893	0.61386	0.0762:0.0:0.9238:0.0	.	160;160;160	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	R	141;160;160;189;160;160;149	ENSP00000449770:G141R;ENSP00000302886:G160R;ENSP00000448557:G160R;ENSP00000447615:G149R	ENSP00000302886:G160R	G	+	1	0	PA2G4;RP11-603J24.9	54787656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.672000	0.98629	1.429000	0.47314	0.655000	0.94253	GGA			0.448	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407767.1		NM_006191		A	56501389	G	A	56501389	3	1	127	1	0	0	0	0	1	0	0	0	11378	1349	47	3	496	3	PA2G4	12	56501389	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	2052620	56501389	77350506	75	9507											
KNTC1	9735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	123041970	123041970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatcatatattggagaaaCtggcattgagttctgtggat	13	13	10	5	0	2	2	1	1	1	1	2	4	2	3	0	3	1	2	0	3	4	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr12:123041970C>G	ENST00000333479.7	+	17	1489	c.1312C>G	c.(1312-1314)Ctg>Gtg	p.L438V	KNTC1_ENST00000450485.2_Missense_Mutation_p.L401V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	438					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATTGGAGAAACTGGCATTGAG	0.388																																					p.L438V													.	.			0			c.C1312G												116	111	113					12																	123041970		1882	4120	6002	SO:0001583	missense	9735	exon17			GAGAAACTGGCAT		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1312C>G	12.37:g.123041970C>G	ENSP00000328236:p.Leu438Val		76	0	0		87	0.24	21	NM_014708	52	0.38	20	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591413	0.28357	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.29397	1.57;2.07	5.38	1.35	0.21983	.	0.270122	0.30649	N	0.009169	T	0.25531	0.0621	L	0.60455	1.87	0.80722	D	1	P;P	0.48294	0.908;0.908	B;B	0.44224	0.444;0.265	T	0.04255	-1.0965	10	0.28530	T	0.3	-9.8253	3.9063	0.09183	0.2488:0.4019:0.0:0.3493	.	401;438	E7ES84;P50748	.;KNTC1_HUMAN	V	401;438	ENSP00000397992:L401V;ENSP00000328236:L438V	ENSP00000328236:L438V	L	+	1	2	KNTC1	121607923	0.997000	0.39634	0.999000	0.59377	0.757000	0.42996	0.593000	0.23999	0.758000	0.33059	0.563000	0.77884	CTG			0.388	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396110.2				G	123041970	C	G	123041970	3	3	127	1	0	0	0	0	1	0	0	0	8443	564	20	5	1374	5	KNTC1	12	123041970	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	66540581	123041970	10809925	76	9508											
RIMBP2	23504	mdanderson.org	37	chr12	130921452	130921452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggcgacggtggtggacaCcggggtgccctgtggctgtg	3	9	19	10	3	0	0	0	0	0	0	0	2	0	1	2	7	1	1	2	7	0	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr12:130921452C>A	ENST00000261655.4	-	10	2153	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.V572L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V572L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	664					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTGGTGGACACCGGGGTGCCC	0.736																																					p.V664L													.	.			0			c.G1990T												12	17	15					12																	130921452		2185	4280	6465	SO:0001583	missense	23504	exon10			TGGACACCGGGGT	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1990G>T	12.37:g.130921452C>A	ENSP00000261655:p.Val664Leu		26	0	0		27	0.11	3	NM_015347	6	0	0	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677907	0.68042	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.19669	2.13;2.7;2.7	4.63	4.63	0.57726	.	0.257927	0.31531	N	0.007499	T	0.39545	0.1082	L	0.58101	1.795	0.37505	D	0.916934	D;P;P	0.64830	0.994;0.953;0.702	D;P;B	0.72625	0.978;0.548;0.116	T	0.30119	-0.9989	10	0.09084	T	0.74	-23.3766	17.4987	0.87725	0.0:1.0:0.0:0.0	.	572;572;664	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	L	664;572;572;572	ENSP00000261655:V664L;ENSP00000440347:V572L;ENSP00000439159:V572L	ENSP00000261655:V664L	V	-	1	0	RIMBP2	129487405	0.998000	0.40836	0.524000	0.27887	0.413000	0.31143	3.657000	0.54474	2.121000	0.65114	0.561000	0.74099	GTG			0.736	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399520.1		NM_015347		A	130921452	C	A	130921452	3	1	127	1	0	0	0	0	1	0	0	0	13386	507	18	3	1208	3	RIMBP2	12	130921452	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	7879482	130921452	2930443	77	9509											
POLE	5426	mdanderson.org	37	chr12	133218311	133218311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacccgtgatcatgtccTccagggaggcctgctggatc	7	8	12	14	1	1	1	1	1	0	0	4	4	3	3	5	3	1	1	5	3	0	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr12:133218311T>C	ENST00000320574.5	-	39	5343	c.5300A>G	c.(5299-5301)gAg>gGg	p.E1767G	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.E1740G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1767					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)	GATCATGTCCTCCAGGGAGGC	0.612								DNA polymerases (catalytic subunits)																													p.E1767G													.	.			0			c.A5300G												95	79	84					12																	133218311		2203	4300	6503	SO:0001583	missense	5426	exon39			ATGTCCTCCAGGG		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.5300A>G	12.37:g.133218311T>C	ENSP00000322570:p.Glu1767Gly		34	0	0		28	0.11	3	NM_006231	111	0.01	1	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.385338	0.61956	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.03035	4.07;4.07;4.07	5.43	5.43	0.79202	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08846	0.0219	M	0.79258	2.445	0.80722	D	1	B	0.21381	0.055	B	0.24006	0.05	T	0.02081	-1.1217	10	0.62326	D	0.03	.	15.4991	0.75680	0.0:0.0:0.0:1.0	.	1767	Q07864	DPOE1_HUMAN	G	1767;1778;1740	ENSP00000322570:E1767G;ENSP00000406383:E1778G;ENSP00000445753:E1740G	ENSP00000322570:E1767G	E	-	2	0	POLE	131728384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.106000	0.71511	2.069000	0.61940	0.533000	0.62120	GAG			0.612	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397689.2		NM_006231		C	133218311	T	C	133218311	3	2	127	1	0	0	0	0	1	0	0	0	12213	1551	54	4	1604	4	POLE	12	133218311	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	2296859	133218311	633584	78	9510											
CUL4A	8451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr13	113897455	113897455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcaacaagagacccaaCaagcctgcagaactgatcgg	15	6	8	12	1	2	3	2	1	0	2	3	4	2	3	2	1	5	1	2	1	5	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr13:113897455C>G	ENST00000375440.4	+	11	1293	c.1209C>G	c.(1207-1209)aaC>aaG	p.N403K	CUL4A_ENST00000451881.1_Missense_Mutation_p.N303K|CUL4A_ENST00000326335.4_Missense_Mutation_p.N303K|CUL4A_ENST00000375441.3_Missense_Mutation_p.N303K	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	403					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGAGACCCAACAAGCCTGCAG	0.408																																					p.N403K													.	.			0			c.C1209G												116	104	108					13																	113897455		2203	4300	6503	SO:0001583	missense	8451	exon11			ACCCAACAAGCCT	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1209C>G	13.37:g.113897455C>G	ENSP00000364589:p.Asn403Lys		68	0	0		64	0.28	18	NM_001008895	108	0.51	55	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932372	0.52866	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	4.97	1.5	0.22942	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);Cullin homology (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.87900	2.915	0.80722	D	1	P;P	0.37781	0.608;0.608	B;B	0.44315	0.446;0.446	T	0.75545	-0.3280	10	0.72032	D	0.01	-50.9379	7.4746	0.27368	0.0:0.3838:0.0:0.6162	.	403;403	Q13619;A8MSH7	CUL4A_HUMAN;.	K	303;303;303;403	ENSP00000364590:N303K;ENSP00000389118:N303K;ENSP00000322132:N303K;ENSP00000364589:N403K	ENSP00000322132:N303K	N	+	3	2	CUL4A	112945456	1.000000	0.71417	0.998000	0.56505	0.759000	0.43091	1.299000	0.33424	0.081000	0.16988	0.655000	0.94253	AAC			0.408	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045888.3		NM_003589		G	113897455	C	G	113897455	3	3	127	1	0	0	0	0	1	0	0	0	4059	477	17	5	1251	5	CUL4A	13	113897455	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10		113897455	1272423	79	9511											
FANCM	57697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	45665475	45665475	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttagacttccgcaggAaggaaaaggaacctgtattc	12	11	9	9	1	1	1	0	0	1	1	4	4	2	4	2	3	1	2	2	3	6	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr14:45665475A>T	ENST00000267430.5	+	21	5526	c.5441A>T	c.(5440-5442)gAa>gTa	p.E1814V	FANCM_ENST00000542564.2_Missense_Mutation_p.E1788V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1814	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTTCCGCAGGAAGGAAAAGGA	0.433								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.E1814V													.	.			0			c.A5441T												128	125	126					14																	45665475		2203	4300	6503	SO:0001583	missense	57697	exon21	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	CGCAGGAAGGAAA	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.5441A>T	14.37:g.45665475A>T	ENSP00000267430:p.Glu1814Val		131	0	0		128	0.2	25	NM_020937	18	0	0	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.121764	0.37436	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.20463	2.66;2.66;2.07	5.27	5.27	0.74061	.	0.318671	0.30890	N	0.008674	T	0.37046	0.0989	L	0.56769	1.78	0.09310	N	0.999999	D;D	0.69078	0.994;0.997	P;P	0.60789	0.795;0.879	T	0.21861	-1.0233	10	0.72032	D	0.01	.	10.9594	0.47376	0.8434:0.1566:0.0:0.0	.	1788;1814	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	V	1814;1788;1330	ENSP00000267430:E1814V;ENSP00000442493:E1788V;ENSP00000452033:E1330V	ENSP00000267430:E1814V	E	+	2	0	FANCM	44735225	0.024000	0.19004	0.470000	0.27216	0.314000	0.28054	1.316000	0.33620	1.998000	0.58463	0.460000	0.39030	GAA			0.433	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000410474.1		XM_048128		T	45665475	A	T	45665475	3	4	127	1	0	0	0	0	1	0	0	0	5684	246	9	5	5523	5	FANCM	14	45665475	Missense_Mutation	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10		45665475	61684065	80	9512											
CCDC88C	440193	mdanderson.org	37	chr14	91780051	91780051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctccaggttctctgcGtccagctgcttgttgtcacg	4	12	11	14	3	2	0	1	0	1	0	5	0	4	0	2	1	4	6	2	1	0	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr14:91780051G>T	ENST00000389857.6	-	15	2195	c.2109C>A	c.(2107-2109)gaC>gaA	p.D703E		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	703					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)			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)				GGTTCTCTGCGTCCAGCTGCT	0.612																																					p.D703E													.	.			0			c.C2109A												44	45	45					14																	91780051		2150	4256	6406	SO:0001583	missense	440193	exon15			CTCTGCGTCCAGC		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.2109C>A	14.37:g.91780051G>T	ENSP00000374507:p.Asp703Glu		37	0	0		45	0.07	3	NM_001080414	39	0	0	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	9.576	1.122413	0.20877	.	.	ENSG00000015133	ENST00000389857	T	0.12569	2.67	5.15	-2.44	0.06502	.	0.269375	0.25509	U	0.030181	T	0.12390	0.0301	L	0.58101	1.795	0.25192	N	0.99013	B	0.17465	0.022	B	0.16722	0.016	T	0.31641	-0.9936	10	0.25751	T	0.34	-11.8022	11.9908	0.53173	0.7437:0.0:0.2563:0.0	.	703	Q9P219	DAPLE_HUMAN	E	703	ENSP00000374507:D703E	ENSP00000374507:D703E	D	-	3	2	CCDC88C	90849804	0.005000	0.15991	0.060000	0.19600	0.915000	0.54546	-0.158000	0.10070	-0.292000	0.08999	0.561000	0.74099	GAC			0.612	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411650.1		XM_029353		T	91780051	G	T	91780051	3	4	127	1	0	0	0	0	1	0	0	0	2867	1136	40	1	4041	1	CCDC88C	14	91780051	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	46114576	91780051	15569489	81	9513											
SERPINA9	327657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	94933616	94933616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaccccaaaagcgaactgCtctttctggtgcatcatggg	9	10	9	13	1	3	0	1	0	2	0	4	1	4	0	3	2	4	2	3	2	3	1	rs539102578		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr14:94933616C>T	ENST00000380365.3	-	3	810	c.732G>A	c.(730-732)gaG>gaA	p.E244E	RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Silent_p.E162E|SERPINA9_ENST00000546329.1_Silent_p.E226E|SERPINA9_ENST00000424550.2_Silent_p.E113E|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Silent_p.E164E|SERPINA9_ENST00000337425.5_Silent_p.E262E			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	244					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)		AAGCGAACTGCTCTTTCTGGT	0.522																																					p.E262E													.	.			0			c.G786A												74	72	73					14																	94933616		2011	4180	6191	SO:0001819	synonymous_variant	327657	exon3			GAACTGCTCTTTC	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.732G>A	14.37:g.94933616C>T			73	0	0		68	0.21	14	NM_175739	0		0	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37																																																																																						0.522	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000395803.2		NM_175739		T	94933616	C	T	94933616	2	4	127	1	0	0	0	0	0	0	0	1	14118	796	28	2		2	SERPINA9	14	94933616	Silent	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	3153565	94933616	12415924	82	9514											
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	105415680	105415680	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagggggctgaatgctGaggtcagtggtcttcaggtc	8	9	17	7	0	3	3	2	2	1	1	4	3	3	3	0	5	1	3	0	5	2	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr14:105415680G>T	ENST00000333244.5	-	7	6227	c.6108C>A	c.(6106-6108)ctC>ctA	p.L2036L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2036						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)			GCTGAATGCTGAGGTCAGTGG	0.657																																					p.L2036L													.	.			0			c.C6108A																																									SO:0001819	synonymous_variant	113146	exon7			AATGCTGAGGTCA	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.6108C>A	14.37:g.105415680G>T			85	0	0		68	0.53	36	NM_138420	1	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																					0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420		T	105415680	G	T	105415680	2	4	127	1	0	0	0	0	0	0	0	1	415	1277	45	3		3	AHNAK2	14	105415680	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	10482064	105415680	1933860	83	9515											
RYR3	6263	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr15	33895565	33895565	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggacttcacctttggtcaGgtgagtaccttgctaaagct	9	13	10	9	0	2	1	2	1	0	0	2	2	2	2	2	3	3	3	2	3	3	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr15:33895565G>C	ENST00000389232.4	+	18	2234	c.2164G>C	c.(2164-2166)Ggc>Cgc	p.G722R	RYR3_ENST00000415757.3_Splice_Site_p.G722R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	722	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		CCTTTGGTCAGGTGAGTACCT	0.468																																					p.G722R													.	RYR3	760		0			c.G2164C												220	227	224					15																	33895565		2087	4224	6311	SO:0001630	splice_region_variant	6263	exon18			TGGTCAGGTGAGT		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.2164+1G>C	15.37:g.33895565G>C			70	0	0		93	0.17	16	NM_001243996	0		0	O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012028	0.93346	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.60171	0.21;0.21	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83194	-0.0082	10	0.87932	D	0	.	19.4732	0.94971	0.0:0.0:1.0:0.0	.	722;722	Q15413-2;Q15413	.;RYR3_HUMAN	R	722	ENSP00000373884:G722R;ENSP00000399610:G722R	ENSP00000354735:G722R	G	+	1	0	RYR3	31682857	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.539000	0.98076	2.831000	0.97527	0.644000	0.83932	GGC			0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000417514.1			Missense_Mutation	C	33895565	G	C	33895565	5	2	127	1	0	0	0	0	0	0	1	0	13793	1014	35	5	2234	5	RYR3	15	33895565	Splice_Site	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		33895565	68635827	84	9516											
FAM98B	283742	bcgsc.ca	37	chr15	38776809	38776809	+	IGR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatccatatggaggaggTggtggtggtggtggtggtgg	6	10	23	2	0	0	1	0	0	0	1	1	4	1	3	1	11	0	0	1	11	1	1	rs201831942|rs374461368		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr15:38776809T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G417G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		ATGGAGGAggtggtggtggtg	0.473																																					p.G417G													.	FAM98B	53		0			c.T1251A							T		2,3092		0,2,1545	25	24	25		1251	-6.5	0.3	15		25	0,6894		0,0,3447	no	coding-synonymous	FAM98B	NM_173611.2		0,2,4992	AA,AT,TT		0.0,0.0646,0.02		417/434	38776809	2,9986	1547	3447	4994	SO:0001628	intergenic_variant	283742	exon8			AGGAGGTGGTGGT		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776809T>A			80	0.0125	1		109	0.06	6	NM_173611	0		0	A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																					0.473	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252071.2		NM_173611		A	38776809	T	A	38776809	1	1	127	0	1	0	0	0	0	0	0	0	5670	1683	59	5		5	FAM98B	15	38776809	IGR	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	4881244	38776809	63754583	85	9517											
RASGRP1	10125	broad.mit.edu	37	chr15	38800149	38800149	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactctccataggctcgccgGtaattgtcgtagtttctgga	7	13	10	11	3	2	0	0	0	2	0	5	1	2	1	2	3	0	4	2	3	3	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr15:38800149G>T	ENST00000310803.5	-	9	1197	c.1020C>A	c.(1018-1020)taC>taA	p.Y340*	RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.Y292*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.Y340*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.Y391*|RASGRP1_ENST00000558164.1_Nonsense_Mutation_p.Y340*|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.Y340*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	340	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		AGGCTCGCCGGTAATTGTCGT	0.532																																					p.Y340X													.	RASGRP1	50		0			c.C1020A												52	51	51					15																	38800149		2039	4182	6221	SO:0001587	stop_gained	10125	exon9			TCGCCGGTAATTG	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.1020C>A	15.37:g.38800149G>T	ENSP00000310244:p.Tyr340*		90	0	0		108	0.03	3	NM_001128602	10	0	0	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Nonsense_Mutation	SNP	ENST00000310803.5	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207365	0.95033	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	.	.	.	5.13	3.25	0.37280	.	0.061292	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7115	12.5572	0.56261	0.2526:0.0:0.7474:0.0	.	.	.	.	X	340;340;340;340;292;340;340	.	ENSP00000310244:Y340X	Y	-	3	2	RASGRP1	36587441	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.885000	0.28227	0.337000	0.23665	-1.134000	0.01955	TAC			0.532	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418223.1		NM_005739		T	38800149	G	T	38800149	4	4	127	1	0	0	0	0	0	1	0	0	13097	1256	44	3	1409	3	RASGRP1	15	38800149	Nonsense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	23340	38800149	63731243	86	9518											
PLA2G4F	255189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	42446574	42446574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattccactcggggtcactGcagttggccactatcctagt	7	12	9	13	1	2	0	2	0	0	0	5	0	4	0	3	3	1	2	3	3	2	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr15:42446574G>A	ENST00000382396.4	-	3	353	c.267C>T	c.(265-267)tgC>tgT	p.C89C	PLA2G4F_ENST00000397272.3_Silent_p.C89C			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	89	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		CGGGGTCACTGCAGTTGGCCA	0.622																																					p.C89C													.	.			0			c.C267T												83	69	74					15																	42446574		2203	4299	6502	SO:0001819	synonymous_variant	255189	exon3			GTCACTGCAGTTG		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.267C>T	15.37:g.42446574G>A			51	0	0		72	0.14	10	NM_213600	4	0.25	1	Q6ZMC8	Silent	SNP	ENST00000382396.4	37	CCDS32204.1																																																																																					0.622	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000420463.1		NM_213600		A	42446574	G	A	42446574	2	1	127	1	0	0	0	0	0	0	0	1	12023	1311	46	2		2	PLA2G4F	15	42446574	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	3646425	42446574	60084818	87	9519											
EID1	399694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	49170473	49170473	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttccgcagatggaggtaGgcagcgggagccgggagcta	9	5	17	10	3	0	1	0	0	0	1	1	4	1	4	3	5	3	4	3	5	2	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr15:49170473G>C	ENST00000332408.4	-	4	1269				SHC4_ENST00000537958.1_5'Flank|EID1_ENST00000530028.2_Missense_Mutation_p.G34R|EID1_ENST00000560490.1_Intron|EID1_ENST00000558295.1_Intron|SHC4_ENST00000396535.3_5'Flank	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GATGGAGGTAGGCAGCGGGAG	0.627																																					p.G34R													.	.			0			c.G100C												71	75	74					15																	49170473		2067	4209	6276	SO:0001627	intron_variant	23741	exon1			GAGGTAGGCAGCG	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+5971C>G	15.37:g.49170473G>C			33	0	0		45	0.24	11	NM_014335	217	0.1	22	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988589	0.53934	.	.	ENSG00000255302	ENST00000530028	T	0.56444	0.46	4.18	3.26	0.37387	.	.	.	.	.	T	0.61961	0.2389	L	0.53249	1.67	0.80722	D	1	D	0.67145	0.996	P	0.62813	0.907	T	0.64266	-0.6448	9	0.87932	D	0	.	9.5917	0.39550	0.0:0.0:0.7921:0.2079	.	34	Q9Y6B2	EID1_HUMAN	R	34	ENSP00000431162:G34R	ENSP00000431162:G34R	G	+	1	0	EID1	46957765	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.182000	0.42556	1.342000	0.45619	0.650000	0.86243	GGC			0.627	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254371.1		NM_203349		C	49170473	G	C	49170473	1	2	127	0	1	0	0	0	0	0	0	0	4991	1000	35	5		5	EID1	15	49170473	Intron	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	6723899	49170473	53360919	88	9520											
EEF2K	29904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	22268122	22268122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggacagaccgggcaagccCctcttccacctggagcacta	11	5	10	15	1	1	1	0	0	1	1	2	3	2	3	5	3	2	2	5	3	3	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr16:22268122C>T	ENST00000263026.5	+	7	1146	c.672C>T	c.(670-672)ccC>ccT	p.P224P		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	224	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)		CGGGCAAGCCCCTCTTCCACC	0.602																																					p.P224P	NSCLC(195;1411 2157 20319 27471 51856)												.	.			0			c.C672T												132	92	106					16																	22268122		2197	4300	6497	SO:0001819	synonymous_variant	29904	exon7			CAAGCCCCTCTTC	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.672C>T	16.37:g.22268122C>T			75	0	0		57	0.37	21	NM_013302	23	0.65	15	Q8N588	Silent	SNP	ENST00000263026.5	37	CCDS10604.1																																																																																					0.602	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211580.2		NM_013302		T	22268122	C	T	22268122	2	4	127	1	0	0	0	0	0	0	0	1	4935	610	22	3		3	EEF2K	16	22268122	Silent	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10		22268122	68086631	89	9521											
ARHGAP17	55114	mdanderson.org	37	chr16	24942406	24942406	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcactgggcaatgccatGgggttgggagggccctggct	5	9	17	10	0	1	0	1	0	0	0	1	1	1	1	2	6	2	4	2	6	1	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr16:24942406G>T	ENST00000289968.6	-	19	2283	c.2214C>A	c.(2212-2214)ccC>ccA	p.P738P	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.P660P	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	738	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCAATGCCATGGGGTTGGGAG	0.622																																					p.P738P													.	.			0			c.C2214A												129	149	142					16																	24942406		2197	4300	6497	SO:0001819	synonymous_variant	55114	exon19			TGCCATGGGGTTG	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.2214C>A	16.37:g.24942406G>T			47	0	0		46	0.07	3	NM_001006634	95	0	0	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	CCDS32409.1																																																																																					0.622	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436548.3		NM_018054		T	24942406	G	T	24942406	2	4	127	1	0	0	0	0	0	0	0	1	867	1335	47	3		3	ARHGAP17	16	24942406	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	2674284	24942406	65412347	90	9522											
PRSS36	146547	mdanderson.org	37	chr16	31159768	31159768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcggtgccgtgcacGaagcggtgtgaggcgcgggg	6	4	21	10	6	0	1	0	1	0	0	0	2	0	1	1	6	4	2	1	6	1	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr16:31159768G>T	ENST00000268281.4	-	5	559	c.501C>A	c.(499-501)ttC>ttA	p.F167L	PRSS36_ENST00000569305.1_Missense_Mutation_p.F167L|PRSS36_ENST00000418068.2_Missense_Mutation_p.F167L	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	167	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGCCGTGCACGAAGCGGTGTG	0.751																																					p.F167L													.	.			0			c.C501A												6	6	6					16																	31159768		2051	4058	6109	SO:0001583	missense	146547	exon5			GTGCACGAAGCGG	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.501C>A	16.37:g.31159768G>T	ENSP00000268281:p.Phe167Leu		8	0	0		9	0.67	6	NM_001258290	0		0	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944045	0.73672	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.86769	-2.17;-2.17	4.94	0.639	0.17747	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.74884	0.3775	N	0.10972	0.075	0.34350	D	0.689742	B;P;P	0.47302	0.014;0.825;0.893	B;B;P	0.45681	0.035;0.339;0.49	T	0.74284	-0.3715	9	0.46703	T	0.11	.	5.891	0.18913	0.2618:0.1549:0.5834:0.0	.	167;167;167	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	L	167	ENSP00000268281:F167L;ENSP00000407160:F167L	ENSP00000268281:F167L	F	-	3	2	PRSS36	31067269	0.363000	0.24989	0.751000	0.31187	0.895000	0.52256	0.742000	0.26216	0.131000	0.18576	0.555000	0.69702	TTC			0.751	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000433542.1		NM_173502		T	31159768	G	T	31159768	3	4	127	1	0	0	0	0	1	0	0	0	12645	1049	37	1	2110	1	PRSS36	16	31159768	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	6217362	31159768	59194985	91	9523											
ZFHX3	463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	72992565	72992565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaactcgcttggaaagaGtcctttgcaaccctcgtctt	9	12	7	13	2	1	1	0	0	1	1	5	2	3	2	3	1	3	2	3	1	3	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr16:72992565G>C	ENST00000268489.5	-	2	2152	c.1480C>G	c.(1480-1482)Ctc>Gtc	p.L494V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	494					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)				CTTGGAAAGAGTCCTTTGCAA	0.577																																					p.L494V													.	.			0			c.C1480G												74	79	77					16																	72992565		2198	4300	6498	SO:0001583	missense	463	exon2			GAAAGAGTCCTTT	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.1480C>G	16.37:g.72992565G>C	ENSP00000268489:p.Leu494Val		85	0	0		79	0.42	33	NM_006885	1	0	0	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	6.475	0.455818	0.12283	.	.	ENSG00000140836	ENST00000268489	T	0.73363	-0.74	5.01	4.04	0.47022	.	0.000000	0.44688	D	0.000439	T	0.49609	0.1567	N	0.08118	0	0.80722	D	1	P	0.38148	0.62	B	0.25759	0.063	T	0.51513	-0.8696	10	0.27082	T	0.32	.	14.6558	0.68833	0.0:0.0:0.853:0.147	.	494	Q15911	ZFHX3_HUMAN	V	494	ENSP00000268489:L494V	ENSP00000268489:L494V	L	-	1	0	ZFHX3	71550066	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	5.706000	0.68362	1.222000	0.43521	-0.188000	0.12872	CTC			0.577	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269008.1		NM_006885		C	72992565	G	C	72992565	3	2	127	1	0	0	0	0	1	0	0	0	17657	1029	36	5	9667	5	ZFHX3	16	72992565	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	41832797	72992565	17362188	92	9524											
ELAC2	60528	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	12921085	12921085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacccgctgccaccacctgCaggtacacggtgtttgggcc	6	8	11	16	2	0	0	0	0	0	0	0	0	0	0	5	3	4	4	5	3	2	3	rs370459638		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr17:12921085C>T	ENST00000338034.4	-	1	419	c.180G>A	c.(178-180)ctG>ctA	p.L60L	ELAC2_ENST00000578071.1_Silent_p.L60L|ELAC2_ENST00000395962.2_Silent_p.L60L|ELAC2_ENST00000426905.3_Silent_p.L60L|ELAC2_ENST00000609345.1_5'Flank	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	60					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCACCACCTGCAGGTACACGG	0.736																																					p.L60L													.	.			0			c.G180A							C	,,	0,4320		0,0,2160	10	15	14		180,180,180	3.2	1	17		14	1,8499		0,1,4249	no	coding-synonymous,coding-synonymous,coding-synonymous	ELAC2	NM_001165962.1,NM_018127.6,NM_173717.1	,,	0,1,6409	TT,TC,CC		0.0118,0.0,0.0078	,,	60/787,60/827,60/826	12921085	1,12819	2160	4250	6410	SO:0001819	synonymous_variant	60528	exon1			CACCTGCAGGTAC	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.180G>A	17.37:g.12921085C>T			46	0	0		53	0.19	10	NM_001165962	89	0.36	32	B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	CCDS11164.1																																																																																					0.736	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129934.5				T	12921085	C	T	12921085	2	4	127	1	0	0	0	0	0	0	0	1	5054	697	25	2		2	ELAC2	17	12921085	Silent	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10		12921085	68274125	93	9525											
TUBG2	27175	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	40817522	40817522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacacagccctgaaccGgattgccacagaccgcctgc	11	4	10	16	2	0	2	0	1	0	1	0	4	0	4	5	2	5	0	5	2	2	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr17:40817522G>A	ENST00000251412.7	+	7	834	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	212					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCCCTGAACCGGATTGCCACA	0.567																																					p.R212Q													.	.			0			c.G635A												180	172	175					17																	40817522		2203	4300	6503	SO:0001583	missense	27175	exon7			TGAACCGGATTGC	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.635G>A	17.37:g.40817522G>A	ENSP00000251412:p.Arg212Gln		100	0	0		141	0.06	8	NM_016437	69	0.06	4	A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914990	0.52546	.	.	ENSG00000037042	ENST00000251412	T	0.68479	-0.33	4.8	1.64	0.23874	Tubulin/FtsZ, GTPase domain (4);	0.064970	0.64402	D	0.000005	T	0.60209	0.2251	M	0.81112	2.525	0.58432	D	0.999995	P	0.49783	0.928	B	0.36608	0.229	T	0.61048	-0.7141	10	0.87932	D	0	-37.5257	7.3675	0.26781	0.1457:0.0:0.7182:0.1361	.	212	Q9NRH3	TBG2_HUMAN	Q	212	ENSP00000251412:R212Q	ENSP00000251412:R212Q	R	+	2	0	TUBG2	38071048	1.000000	0.71417	0.997000	0.53966	0.252000	0.25951	7.863000	0.87023	0.175000	0.19841	-0.136000	0.14681	CGG			0.567	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452326.1		NM_016437		A	40817522	G	A	40817522	3	1	127	1	0	0	0	0	1	0	0	0	16789	1116	39	1	661	1	TUBG2	17	40817522	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	27896437	40817522	40377688	94	9526											
NMT1	4836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	43173564	43173564	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcttatttctttacagctAaaagaactgtacaccctcct	11	14	4	12	0	1	1	0	0	1	1	2	1	2	1	2	0	5	3	2	0	6	6			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr17:43173564A>T	ENST00000592782.1	+	6	638	c.507A>T	c.(505-507)ctA>ctT	p.L169L	NMT1_ENST00000258960.2_Silent_p.L169L|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	169					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.L169L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CTTTACAGCTAAAAGAACTGT	0.433																																					p.L169L													NMT1,NS,carcinoma,0,1	NMT1	0	1	1	Substitution - coding silent(1)	kidney(1)	c.A507T												145	136	139					17																	43173564		2203	4300	6503	SO:0001819	synonymous_variant	4836	exon5			ACAGCTAAAAGAA		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.507A>T	17.37:g.43173564A>T			76	0	0		101	0.16	16	NM_021079	182	0.26	47	A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034505	0.35893	.	.	ENSG00000136448	ENST00000543908	.	.	.	5.65	0.127	0.14727	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6584	7.7356	0.28812	0.1842:0.3212:0.4946:0.0	.	.	.	.	X	130	.	ENSP00000439263:K130X	K	+	1	0	NMT1	40529090	0.999000	0.42202	0.997000	0.53966	0.331000	0.28603	0.436000	0.21526	-0.041000	0.13558	-0.798000	0.03219	AAA			0.433	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449239.1		NM_021079		T	43173564	A	T	43173564	2	4	127	1	0	0	0	0	0	0	0	1	10520	349	13	5		5	NMT1	17	43173564	Silent	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	2356042	43173564	38021646	95	9527											
LRRC37A2	474170	broad.mit.edu	37	chr17	44627781	44627781	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgtttttttttttagCtcaaaaaagaagttccagga	11	18	8	4	0	1	1	1	0	0	1	2	2	2	2	1	1	1	3	1	1	5	8			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr17:44627781C>T	ENST00000576629.1	+	11	5200	c.4705C>T	c.(4705-4707)Ctc>Ttc	p.L1569F	LRRC37A2_ENST00000333412.3_Splice_Site_p.L1569F|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1569						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)		TTTTTTTTAGCTCAAAAAAGA	0.323																																					p.L1569F													.	LRRC37A2	37		0			c.C4705T												46	44	44					17																	44627781		2026	3985	6011	SO:0001630	splice_region_variant	474170	exon10			TTTTAGCTCAAAA	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.4705-1C>T	17.37:g.44627781C>T			151	0.0198675497	3		203	0.04	9	NM_001006607	6	0	0	B7ZMC3	Splice_Site	SNP	ENST00000576629.1	37	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	c	7.240	0.601118	0.13939	.	.	ENSG00000238083	ENST00000333412	T	0.51817	0.69	3.19	0.16	0.14972	.	.	.	.	.	T	0.55737	0.1939	L	0.55743	1.74	0.09310	N	0.999991	B;D;B	0.69078	0.01;0.997;0.44	B;D;B	0.70227	0.002;0.968;0.08	T	0.41016	-0.9532	8	.	.	.	.	5.2125	0.15325	0.0:0.5916:0.0:0.4084	.	1569;530;1569	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	F	1569	ENSP00000333071:L1569F	.	L	+	1	0	LRRC37A2	41983097	0.005000	0.15991	0.071000	0.20095	0.116000	0.19942	-0.715000	0.04997	0.185000	0.20105	0.175000	0.17021	CTC			0.323	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440299.2		NM_001006607	Missense_Mutation	T	44627781	C	T	44627781	5	4	127	1	0	0	0	0	0	0	1	0	9008	811	28	2	4743	2	LRRC37A2	17	44627781	Splice_Site	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	1454217	44627781	36567429	96	9528											
EPN3	55040	mdanderson.org	37	chr17	48614207	48614207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggcccaccagtgccGcgagaacctctacaccatcc	8	5	11	17	3	1	1	0	0	1	1	2	2	2	1	6	2	3	0	6	2	2	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr17:48614207G>T	ENST00000268933.3	+	2	869	c.290G>T	c.(289-291)cGc>cTc	p.R97L	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Missense_Mutation_p.R41L|EPN3_ENST00000537145.1_Missense_Mutation_p.R152L	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	97	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)	p.R97H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CACCAGTGCCGCGAGAACCTC	0.602																																					p.R97L													EPN3,mouth,carcinoma,0,1	EPN3	0	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G290T												111	101	104					17																	48614207		2203	4300	6503	SO:0001583	missense	55040	exon2			AGTGCCGCGAGAA	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.290G>T	17.37:g.48614207G>T	ENSP00000268933:p.Arg97Leu		43	0	0		53	0.06	3	NM_017957	1	0	0	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235833	0.58886	.	.	ENSG00000049283	ENST00000268933;ENST00000503246;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000515126;ENST00000507467;ENST00000411703	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.28	4.32	0.51571	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.130598	0.52532	D	0.000063	T	0.66268	0.2772	M	0.84433	2.695	0.42793	D	0.9939	D;D;D	0.58970	0.984;0.98;0.968	P;P;P	0.61658	0.892;0.827;0.672	T	0.70389	-0.4885	10	0.59425	D	0.04	-14.6161	9.9144	0.41425	0.1575:0.0:0.8425:0.0	.	152;152;97	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	L	97;97;152;152;41;97;97;97	ENSP00000268933:R97L;ENSP00000426762:R97L;ENSP00000439512:R152L;ENSP00000440540:R41L;ENSP00000422601:R97L;ENSP00000421515:R97L	ENSP00000268933:R97L	R	+	2	0	EPN3	45969206	0.991000	0.36638	0.912000	0.35992	0.995000	0.86356	2.304000	0.43655	1.235000	0.43724	0.561000	0.74099	CGC			0.602	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367573.1		NM_017957		T	48614207	G	T	48614207	3	4	127	1	0	0	0	0	1	0	0	0	5194	1087	38	1	292	1	EPN3	17	48614207	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	3986426	48614207	32581003	97	9529											
SPAG9	9043	ucsc.edu	37	chr17	49124780	49124780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctagttgatcactccctgaGagctgatgaagttttgttct	8	16	9	8	0	3	4	1	4	2	1	4	5	4	4	1	0	1	4	1	0	2	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr17:49124780G>A	ENST00000262013.7	-	4	754	c.546C>T	c.(544-546)ctC>ctT	p.L182L	SPAG9_ENST00000357122.4_Silent_p.L182L|RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000510283.1_5'Flank|SPAG9_ENST00000505279.1_Silent_p.L182L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	182					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)			CACTCCCTGAGAGCTGATGAA	0.284																																					p.L182L													.	SPAG9	151		0			c.C546T												119	118	118					17																	49124780		2203	4298	6501	SO:0001819	synonymous_variant	9043	exon4			CCCTGAGAGCTGA	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.546C>T	17.37:g.49124780G>A			37	0	0		36	0.11	4	NM_001130528	43	0	0	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	CCDS45740.1																																																																																					0.284	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000368543.2		NM_003971		A	49124780	G	A	49124780	2	1	127	1	0	0	0	0	0	0	0	1	15008	929	33	3		3	SPAG9	17	49124780	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	510573	49124780	32070430	98	9530											
MKS1	54903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	56293605	56293605	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtacagatctacttcaaaCtgaggttaccataaggaaac	15	10	8	8	0	2	2	1	1	1	1	2	3	2	3	1	3	5	2	1	3	6	5			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr17:56293605C>G	ENST00000393119.2	-	4	336		c.e4-1		MKS1_ENST00000337050.7_Splice_Site|MKS1_ENST00000537529.2_Splice_Site|MKS1_ENST00000313863.6_Splice_Site|LPO_ENST00000582328.1_5'Flank|MKS1_ENST00000546108.1_Splice_Site	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1						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						CTACTTCAAACTGAGGTTACC	0.393																																					.													.	.			0			c.232-1G>C												106	96	100					17																	56293605		1850	4100	5950	SO:0001630	splice_region_variant	54903	exon5			TTCAAACTGAGGT	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.262-1G>C	17.37:g.56293605C>G			35	0	0		40	0.28	11	NM_001165927	0		0	B7WNX4|F5H885|Q284T0|Q96G13	Splice_Site	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574633	0.86542	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000313863;ENST00000337050	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.661	0.91471	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MKS1	53648604	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.298000	0.78815	2.770000	0.95276	0.643000	0.83706	.			0.393	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258015.2		NM_017777	Intron	G	56293605	C	G	56293605	5	3	127	1	0	0	0	0	0	0	1	0	9625	579	20	5	1478	5	MKS1	17	56293605	Splice_Site	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	7168825	56293605	24901605	99	9531											
MARCH10	162333	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr17	60814457	60814457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccctcctacagtggtggGtgtgagtggtggccccgaga	5	9	17	10	1	0	2	0	1	0	1	1	3	1	2	4	5	1	0	4	5	1	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr17:60814457G>T	ENST00000311269.5	-	6	1046	c.772C>A	c.(772-774)Ccc>Acc	p.P258T	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.P258T|MARCH10_ENST00000544856.2_Missense_Mutation_p.P257T|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.P296T|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	258					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						ACAGTGGTGGGTGTGAGTGGT	0.493																																					p.P258T													.	MARCH10	102		0			c.C772A												119	120	120					17																	60814457		2203	4300	6503	SO:0001583	missense	162333	exon6			TGGTGGGTGTGAG	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.772C>A	17.37:g.60814457G>T	ENSP00000311496:p.Pro258Thr		180	0.0055555556	1		168	0.27	46	NM_001100875	0		0	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	8.197	0.797283	0.16327	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.32515	1.45;1.45;1.45	4.98	-3.63	0.04529	.	1.110450	0.06812	N	0.790540	T	0.08358	0.0208	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.16603	0.01;0.018;0.01	B;B;B	0.14578	0.005;0.011;0.005	T	0.28522	-1.0041	10	0.02654	T	1	0.9716	0.4768	0.00541	0.3957:0.1343:0.1665:0.3035	.	257;257;258	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	T	258;258;257	ENSP00000416177:P258T;ENSP00000311496:P258T;ENSP00000443746:P257T	ENSP00000311496:P258T	P	-	1	0	MARCH10	58168189	0.001000	0.12720	0.000000	0.03702	0.065000	0.16274	-0.240000	0.08952	-0.452000	0.07087	-0.291000	0.09656	CCC			0.493	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000445252.1		NM_152598		T	60814457	G	T	60814457	3	4	127	1	0	0	0	0	1	0	0	0	9315	1261	44	3	1678	3	MARCH10	17	60814457	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	4520852	60814457	20380753	100	9532											
GPS1	2873	mdanderson.org	37	chr17	80012851	80012851	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccccagagattgccgaGgtacgggccacctcctcaga	9	6	10	16	2	1	2	1	0	0	2	3	4	3	2	7	2	2	1	7	2	1	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr17:80012851G>T	ENST00000306823.6	+	5	722	c.699G>T	c.(697-699)gaG>gaT	p.E233D	GPS1_ENST00000392358.2_Splice_Site_p.E269D|GPS1_ENST00000355130.2_Splice_Site_p.E269D|GPS1_ENST00000320548.4_Splice_Site_p.E213D|GPS1_ENST00000578552.1_Splice_Site_p.E229D			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	233					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGATTGCCGAGGTACGGGCCA	0.617																																					p.E269D													.	.			0			c.G807T												70	69	69					17																	80012851		2203	4300	6503	SO:0001630	splice_region_variant	2873	exon5			TGCCGAGGTACGG		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.699+1G>T	17.37:g.80012851G>T			52	0	0		50	0.06	3	NM_212492	542	0	0	Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911098	0.33721	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	.	.	.	4.63	4.63	0.57726	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	L	0.39147	1.195	0.80722	D	1	B;B;B;B;B;B	0.20988	0.009;0.001;0.05;0.007;0.005;0.002	B;B;B;B;B;B	0.33254	0.036;0.015;0.16;0.021;0.02;0.013	T	0.52540	-0.8562	9	0.31617	T	0.26	-42.3675	11.5222	0.50558	0.0964:0.0:0.9036:0.0	.	225;269;218;229;233;269	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	D	269;219;233;269;154	.	ENSP00000302873:E233D	E	+	3	2	GPS1	77606140	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	7.289000	0.78701	2.141000	0.66446	0.591000	0.81541	GAG			0.617	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000442176.1		NM_212492	Missense_Mutation	T	80012851	G	T	80012851	5	4	127	1	0	0	0	0	0	0	1	0	6747	1014	35	3	874	3	GPS1	17	80012851	Splice_Site	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	19198394	80012851	1182359	101	9533											
NAPG	8774	mdanderson.org	37	chr18	10526105	10526105	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctgactgtggagatggcGgctcagaagataaacgaggg	12	6	16	7	2	1	4	1	1	0	3	1	7	1	4	1	4	1	1	1	4	3	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr18:10526105G>T	ENST00000322897.6	+	1	75	c.6G>T	c.(4-6)gcG>gcT	p.A2A	NAPG_ENST00000542979.1_5'UTR	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	2					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						TGGAGATGGCGGCTCAGAAGA	0.602																																					p.A2A													NAPG,NS,carcinoma,+2,1	NAPG	2	1	0			c.G6T												48	57	54					18																	10526105		1964	4142	6106	SO:0001819	synonymous_variant	8774	exon1			GATGGCGGCTCAG	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.6G>T	18.37:g.10526105G>T			41	0	0		27	0.11	3	NM_003826	35	0	0	B4DFC9|Q9BUV1	Silent	SNP	ENST00000322897.6	37	CCDS45827.1																																																																																					0.602	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444873.1		NM_003826		T	10526105	G	T	10526105	2	4	127	1	0	0	0	0	0	0	0	1	10180	1103	39	1		1	NAPG	18	10526105	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		10526105	67551143	102	9534											
NEDD4L	23327	bcgsc.ca	37	chr18	56057876	56057876	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccttctgcctctgttcatAggctgtgctactcatggacg	6	13	10	12	1	4	0	2	0	2	0	4	2	4	1	2	2	3	3	2	2	2	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr18:56057876A>G	ENST00000400345.3	+	29	2938		c.e29-1		NEDD4L_ENST00000256830.9_Splice_Site|NEDD4L_ENST00000256832.7_Splice_Site|NEDD4L_ENST00000586263.1_Splice_Site|NEDD4L_ENST00000456173.2_Splice_Site|NEDD4L_ENST00000456986.1_Splice_Site|NEDD4L_ENST00000356462.6_Splice_Site|NEDD4L_ENST00000431212.2_Splice_Site|NEDD4L_ENST00000589054.1_Splice_Site|NEDD4L_ENST00000435432.2_Splice_Site|NEDD4L_ENST00000382850.4_Splice_Site|NEDD4L_ENST00000357895.5_Splice_Site	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						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						CTCTGTTCATAGGCTGTGCTA	0.478																																					.													.	NEDD4L	126		0			c.2596-2A>G												65	63	64					18																	56057876		2032	4193	6225	SO:0001630	splice_region_variant	23327	exon28			GTTCATAGGCTGT	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.2656-1A>G	18.37:g.56057876A>G			82	0	0		60	0.07	4	NM_015277	1	0	0	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Splice_Site	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.760589	0.89932	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEDD4L	54208856	1.000000	0.71417	0.922000	0.36590	0.882000	0.50991	9.283000	0.95860	2.146000	0.66826	0.533000	0.62120	.			0.478	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000448749.1			Intron	G	56057876	A	G	56057876	5	3	127	1	0	0	0	0	0	0	1	0	10328	434	15	4	2796	4	NEDD4L	18	56057876	Splice_Site	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	45531771	56057876	22019372	103	9535											
POLRMT	5442	mdanderson.org	37	chr19	619021	619021	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttggagtccaggcgataGggctggatgacggggacgcc	8	6	17	10	3	0	1	0	1	0	0	1	5	1	4	3	6	0	1	3	6	1	2	rs14155	byFrequency	TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:619021G>T	ENST00000588649.2	-	15	3327	c.3243C>A	c.(3241-3243)ccC>ccA	p.P1081P	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1081	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.P1081P(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		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)		CCAGGCGATAGGGCTGGATGA	0.637																																					p.P1081P													POLRMT,colon,carcinoma,0,2	POLRMT	0	2	1	Substitution - coding silent(1)	stomach(1)	c.C3243A												59	50	53					19																	619021		2197	4299	6496	SO:0001819	synonymous_variant	5442	exon15			GCGATAGGGCTGG		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3243C>A	19.37:g.619021G>T			69	0	0		73	0.04	3	NM_005035	86	0	0	O60370	Silent	SNP	ENST00000588649.2	37	CCDS12036.1																																																																																					0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452172.3		NM_005035		T	619021	G	T	619021	2	4	127	1	0	0	0	0	0	0	0	1	12255	987	35	3		3	POLRMT	19	619021	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		619021	58509962	104	9536											
PCSK4	148223	mdanderson.org	37	chr19	1482101	1482101	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctcagcgcgggcgccGccgtgtgcccaggcccagcg	5	3	15	18	6	1	1	1	0	0	1	1	1	1	1	5	2	3	0	5	2	0	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:1482101G>A	ENST00000436106.2	-	0	0				C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|C19orf25_ENST00000588427.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA|C19orf25_ENST00000591027.1_5'Flank|C19orf25_ENST00000585675.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.A642V			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)		CGCGGGCGCCGCCGTGTGCCC	0.711																																					p.A642V													.	.			0			c.C1925T												7	5	5					19																	1482101		2014	3984	5998	SO:0001631	upstream_gene_variant	54760	exon15			GGCGCCGCCGTGT	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.1482101G>A	Exception_encountered		12	0	0		12	0.17	2	NM_017573	22	0	0	B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	G	6.268	0.417639	0.11870	.	.	ENSG00000115257	ENST00000300954	T	0.62788	0.0	4.22	2.06	0.26882	Growth factor, receptor (1);	3.291290	0.02080	U	0.052281	T	0.53417	0.1795	L	0.43152	1.355	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.17531	-1.0366	10	0.16896	T	0.51	.	6.5428	0.22390	0.2317:0.0:0.7683:0.0	.	642	Q6UW60	PCSK4_HUMAN	V	642	ENSP00000300954:A642V	ENSP00000300954:A642V	A	-	2	0	PCSK4	1433101	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-1.894000	0.01607	0.264000	0.21851	0.462000	0.41574	GCG			0.711	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449694.1		NM_152482		A	1482101	G	A	1482101	1	1	127	0	1	0	0	0	0	0	0	0	11619	1087	38	1		1	PCSK4	19	1482101	5'Flank	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	863080	1482101	57646882	105	9537											
LONP1	9361	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	5696679	5696690	+	Splice_Site	DEL	ACCTCGTCGATG	ACCTCGTCGATG	-																															ctccgggcctctccgcacgcAcctcgtcgatgaggatcagg																								rs368178461|rs11551018|rs374023976	byFrequency	TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	ACCTCGTCGATG	ACCTCGTCGATG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:5696679_5696690delACCTCGTCGATG	ENST00000360614.3	-	11	1921_1931	c.1764_1774delCATCGACGAGGT	c.(1762-1776)ctcatcgacgaggtt>cttt	p.IDEV589del	LONP1_ENST00000590729.1_Splice_Site_p.IDEV459del|LONP1_ENST00000593119.1_Splice_Site_p.IDEV525del|LONP1_ENST00000540670.2_Splice_Site_p.IDEV393del|LONP1_ENST00000585374.1_Splice_Site_p.IDEV475del	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						CTCCGCACGCACCTCGTCGATGAGGATCAGGG	0.642																																					p.589_591del													.	.			0			c.1765_1773del																																									SO:0001630	splice_region_variant	9361	exon11			GCACGCACCTCGT	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.1773+1CATCGACGAGGT>-	19.37:g.5696679_5696690delACCTCGTCGATG			57	0	0		37	0.27	10	NM_004793	5	0	0		In_Frame_Del	DEL	ENST00000360614.3	37	CCDS12148.1																																																																																					0.642	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451662.1		NM_004793	In_Frame_Del	-	5696690	ACCTCGTCGATG	-	5696679	8	5	127	1	0	1	0	1	0	0	1	0	8908	173	6	0	1136	0	LONP1	19	5696679	Splice_Site	DEL	ACCTCGTCGATG	TCGA-XY-A8S2-01A-11D-A435-10	4214578	5696679	53432304	106	9538											
ZNF358	140467	mdanderson.org	37	chr19	7585369	7585369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgctgcagctgcagcagCggccgccggcctgggcctcg	3	4	17	17	5	0	0	0	0	0	0	1	0	0	0	5	4	5	5	5	4	0	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:7585369C>T	ENST00000597229.1	+	2	1411	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.A414V|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	414	Poly-Ala.				embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|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)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						gctgcagcagcggccgccgGC	0.701																																					p.A414V													.	.			0			c.C1241T												4	5	4					19																	7585369		1605	3355	4960	SO:0001583	missense	140467	exon2			CAGCAGCGGCCGC	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1241C>T	19.37:g.7585369C>T	ENSP00000472305:p.Ala414Val		27	0	0		29	0.07	2	NM_018083	15	0	0	Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728565	0.30593	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.09163	3.01	2.76	2.76	0.32466	.	.	.	.	.	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.61132	0.884	T	0.28776	-1.0033	9	0.14252	T	0.57	-1.0289	9.175	0.37107	0.0:1.0:0.0:0.0	.	414	Q9NW07	ZN358_HUMAN	V	414	ENSP00000377873:A414V	ENSP00000354703:A414V	A	+	2	0	ZNF358	7491369	0.001000	0.12720	0.017000	0.16124	0.026000	0.11368	-0.405000	0.07196	1.875000	0.54330	0.443000	0.29094	GCG			0.701	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316747.1				T	7585369	C	T	7585369	3	4	127	1	0	0	0	0	1	0	0	0	17890	768	27	1	1243	1	ZNF358	19	7585369	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	1888690	7585369	51543614	107	9539											
NOTCH3	4854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	15284960	15284960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagggaagaccatggccTggccgtgcgcgtccaggcgg	7	5	18	11	4	0	1	0	0	0	1	1	2	1	2	4	6	1	1	4	6	2	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:15284960T>C	ENST00000263388.2	-	25	4730	c.4655A>G	c.(4654-4656)cAg>cGg	p.Q1552R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1552					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)			GACCATGGCCTGGCCGTGCGC	0.701																																					p.Q1552R													.	.			0			c.A4655G												21	29	27					19																	15284960		2196	4294	6490	SO:0001583	missense	4854	exon25			ATGGCCTGGCCGT	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.4655A>G	19.37:g.15284960T>C	ENSP00000263388:p.Gln1552Arg		31	0	0		25	0.36	9	NM_000435	63	0.4	25	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138376	0.56936	.	.	ENSG00000074181	ENST00000263388	D	0.86956	-2.19	4.83	4.83	0.62350	Notch, NOD domain (1);	.	.	.	.	T	0.77110	0.4082	N	0.13098	0.295	0.35301	D	0.783016	B	0.13594	0.008	B	0.22386	0.039	T	0.75345	-0.3350	9	0.20519	T	0.43	.	13.3666	0.60687	0.0:0.0:0.0:1.0	.	1552	Q9UM47	NOTC3_HUMAN	R	1552	ENSP00000263388:Q1552R	ENSP00000263388:Q1552R	Q	-	2	0	NOTCH3	15145960	0.990000	0.36364	0.999000	0.59377	0.991000	0.79684	7.744000	0.85034	1.812000	0.52913	0.402000	0.26972	CAG			0.701	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465714.1		NM_000435		C	15284960	T	C	15284960	3	2	127	1	0	0	0	0	1	0	0	0	10567	1580	55	4	2346	4	NOTCH3	19	15284960	Missense_Mutation	SNP	T	TCGA-XY-A8S2-01A-11D-A435-10	7699591	15284960	43844023	108	9540											
SLC7A9	11136	mdanderson.org	37	chr19	33353095	33353095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacagctgggcgccctcGaaagaattatcaaaattctt	14	9	8	10	2	2	2	1	0	1	2	3	3	2	2	1	1	1	1	1	1	5	3	rs372980958		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:33353095G>T	ENST00000023064.4	-	6	824	c.633C>A	c.(631-633)ttC>ttA	p.F211L	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Missense_Mutation_p.F211L|SLC7A9_ENST00000590341.1_Missense_Mutation_p.F211L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	211					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.F211F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GGGCGCCCTCGAAAGAATTAT	0.517																																					p.F211L	GBM(181;1335 2108 9644 44178 46689)												SLC7A9,NS,carcinoma,0,2	SLC7A9	0	2	1	Substitution - coding silent(1)	large_intestine(1)	c.C633A	GRCh37	CD010661	SLC7A9	D								68	67	68					19																	33353095		2203	4300	6503	SO:0001583	missense	11136	exon6			GCCCTCGAAAGAA	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.633C>A	19.37:g.33353095G>T	ENSP00000023064:p.Phe211Leu		34	0	0		29	0.1	3	NM_001243036	1	0	0	B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337950	0.60963	.	.	ENSG00000021488	ENST00000023064	D	0.90324	-2.65	5.12	-0.885	0.10593	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94604	0.8261	M	0.86651	2.83	0.53688	D	0.999975	D	0.89917	1.0	D	0.81914	0.995	D	0.93022	0.6441	10	0.72032	D	0.01	.	11.6208	0.51117	0.5366:0.0:0.4634:0.0	.	211	P82251	BAT1_HUMAN	L	211	ENSP00000023064:F211L	ENSP00000023064:F211L	F	-	3	2	SLC7A9	38044935	1.000000	0.71417	0.949000	0.38748	0.481000	0.33189	1.717000	0.37991	-0.468000	0.06922	-0.258000	0.10820	TTC			0.517	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450585.1				T	33353095	G	T	33353095	3	4	127	1	0	0	0	0	1	0	0	0	14728	1049	37	1	862	1	SLC7A9	19	33353095	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	18068135	33353095	25775888	109	9541											
SIPA1L3	23094	broad.mit.edu	37	chr19	38684282	38684282	+	Frame_Shift_Del	DEL	C	C	-																															ctggcctagagccagggctgCccagcgacgtgctcttcacc																										TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:38684282delC	ENST00000222345.6	+	18	5211	c.4702delC	c.(4702-4704)cccfs	p.P1568fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1568					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCAGGGCTGCCCAGCGACGT	0.746																																					p.P1568fs													.	SIPA1L3	150		0			c.4702delC												8	9	8					19																	38684282		2149	4219	6368	SO:0001589	frameshift_variant	23094	exon18			GGGCTGCCCAGCG	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4702delC	19.37:g.38684282delC	ENSP00000222345:p.Pro1568fs		9	0	0		6	0.33	2	NM_015073	5	0	0	Q2TV87	Frame_Shift_Del	DEL	ENST00000222345.6	37	CCDS33007.1																																																																																					0.746	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000156294.2		XM_032278		-	38684282	C	-	38684282	7	5	127	1	0	1	0	1	0	0	0	0	14354	739	26	0	4764	0	SIPA1L3	19	38684282	Frame_Shift_Del	DEL	C	TCGA-XY-A8S2-01A-11D-A435-10	5331187	38684282	20444701	110	9542											
B3GNT8	593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	41932344	41932344	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcaagaagcggcggaggtCcttggggtaggaggcgaagt	10	5	19	7	3	0	1	0	0	0	1	1	4	1	3	1	7	2	2	1	7	4	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:41932344C>T	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Missense_Mutation_p.D114N|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGGCGGAGGTCCTTGGGGTAG	0.672																																					p.D114N													.	.			0			c.G340A												27	29	28					19																	41932344		2202	4299	6501	SO:0001628	intergenic_variant	374907	exon3			GGAGGTCCTTGGG	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932344C>T			54	0	0		49	0.47	23	NM_198540	3	0.67	2	B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	2.694	-0.272444	0.05716	.	.	ENSG00000177191	ENST00000321702	T	0.34072	1.38	4.21	2.06	0.26882	.	0.929501	0.08989	N	0.864614	T	0.20618	0.0496	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.30765	-0.9967	10	0.15952	T	0.53	.	4.3184	0.11003	0.0:0.5994:0.1902:0.2104	.	114	Q7Z7M8	B3GN8_HUMAN	N	114	ENSP00000312700:D114N	ENSP00000312700:D114N	D	-	1	0	B3GNT8	46624184	0.000000	0.05858	0.126000	0.21872	0.215000	0.24574	0.638000	0.24674	0.536000	0.28733	0.462000	0.41574	GAC			0.672	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398313.3		NM_000709		T	41932344	C	T	41932344	1	4	127	0	1	0	0	0	0	0	0	0	1263	855	30	3		3	B3GNT8	19	41932344	IGR	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	3248062	41932344	17196639	111	9543											
ARHGAP35	2909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	47422321	47422321	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcttgcatcagctgaaaAactcatgtacttttgcactg	12	12	7	10	0	2	1	2	1	0	0	2	1	2	1	0	0	6	5	0	0	4	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:47422321A>T	ENST00000404338.3	+	1	389	c.389A>T	c.(388-390)aAa>aTa	p.K130I		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	130					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TCAGCTGAAAAACTCATGTAC	0.478																																					p.K130I													.	.			0			c.A389T												64	62	62					19																	47422321		1925	4130	6055	SO:0001583	missense	2909	exon1			CTGAAAAACTCAT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.389A>T	19.37:g.47422321A>T	ENSP00000385720:p.Lys130Ile		91	0	0		77	0.32	25	NM_004491	18	0.39	7	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208886	0.58343	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.80480	-1.38	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92293	0.5843	10	0.87932	D	0	-27.2395	15.3143	0.74062	1.0:0.0:0.0:0.0	.	130	Q9NRY4-2	.	I	130	ENSP00000385720:K130I	ENSP00000324820:K130I	K	+	2	0	ARHGAP35	52114161	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	9.339000	0.96797	2.264000	0.75181	0.533000	0.62120	AAA			0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466652.1		NM_004491		T	47422321	A	T	47422321	3	4	127	1	0	0	0	0	1	0	0	0	6810	14	1	5	391	5	ARHGAP35	19	47422321	Missense_Mutation	SNP	A	TCGA-XY-A8S2-01A-11D-A435-10	5489977	47422321	11706662	112	9544											
TRPM4	54795	mdanderson.org	37	chr19	49699839	49699839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccggtgaccatcttcatgGgcaacgtggtcagctacctg	7	9	12	13	3	3	1	2	1	1	0	3	1	3	1	3	3	3	2	3	3	2	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:49699839G>T	ENST00000252826.5	+	17	2479	c.2353G>T	c.(2353-2355)Ggc>Tgc	p.G785C	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Missense_Mutation_p.G431C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	785					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)		CATCTTCATGGGCAACGTGGT	0.701																																					p.G785C													.	.			0			c.G2353T												24	21	22					19																	49699839		2168	4239	6407	SO:0001583	missense	54795	exon17			TTCATGGGCAACG	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.2353G>T	19.37:g.49699839G>T	ENSP00000252826:p.Gly785Cys		13	0	0		12	0.17	2	NM_017636	2	0	0	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.825029	0.71143	.	.	ENSG00000130529	ENST00000252826;ENST00000355712	D;D	0.96651	-4.08;-4.08	3.28	3.28	0.37604	.	0.126740	0.52532	U	0.000065	D	0.96864	0.8976	M	0.64997	1.995	0.44061	D	0.996802	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.982;0.992;0.998	D	0.95617	0.8677	10	0.46703	T	0.11	-25.5903	8.8777	0.35356	0.1141:0.0:0.8859:0.0	.	431;611;785	B4DIX5;Q8TD43-2;Q8TD43	.;.;TRPM4_HUMAN	C	785;431	ENSP00000252826:G785C;ENSP00000347944:G431C	ENSP00000252826:G785C	G	+	1	0	TRPM4	54391651	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.225000	0.72271	2.142000	0.66516	0.543000	0.68304	GGC			0.701	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000465543.2		NM_017636		T	49699839	G	T	49699839	3	4	127	1	0	0	0	0	1	0	0	0	16612	1232	43	3	2419	3	TRPM4	19	49699839	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	2277518	49699839	9429144	113	9545											
RPL13A	23521	mdanderson.org	37	chr19	49994344	49994344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggtcgtgcgtctgaaGcctacaagaaaggtgagtcc	11	8	12	10	2	2	3	1	2	1	1	4	3	3	3	2	2	3	0	2	2	5	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:49994344G>T	ENST00000391857.4	+	6	466	c.390G>T	c.(388-390)aaG>aaT	p.K130N	SNORD33_ENST00000362761.1_RNA|SNORD34_ENST00000365633.1_RNA|SNORD32A_ENST00000364805.1_RNA|SNORD35A_ENST00000363389.1_RNA|RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	130					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|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)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		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)		TGCGTCTGAAGCCTACAAGAA	0.567																																					p.K130N													.	.			0			c.G390T												63	57	59					19																	49994344		2203	4300	6503	SO:0001583	missense	23521	exon6			TCTGAAGCCTACA	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"L ribosomal proteins"	10304	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 1"	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.390G>T	19.37:g.49994344G>T	ENSP00000375730:p.Lys130Asn		33	0	0		35	0.09	3	NM_012423	2619	0	0	A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411132	0.42817	.	.	ENSG00000142541	ENST00000391857	.	.	.	5.61	5.61	0.85477	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000001	T	0.66197	0.2765	M	0.62154	1.92	0.58432	D	0.999998	B;B	0.18013	0.011;0.025	B;B	0.19148	0.016;0.024	T	0.61554	-0.7039	9	0.42905	T	0.14	.	17.4888	0.87696	0.0:0.0:1.0:0.0	.	130;130	Q5QTS3;P40429	.;RL13A_HUMAN	N	130	.	ENSP00000375730:K130N	K	+	3	2	RPL13A	54686156	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.536000	0.60636	2.813000	0.96785	0.655000	0.94253	AAG			0.567	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258989.1				T	49994344	G	T	49994344	3	4	127	1	0	0	0	0	1	0	0	0	13583	962	34	2	412	2	RPL13A	19	49994344	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	294505	49994344	9134639	114	9546											
KCNC3	3748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50826601	50826601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagttgttgacaatgaCgggcacaggcatggcgatgg	11	7	15	8	2	0	2	0	2	0	0	0	3	0	2	1	4	0	4	1	4	2	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr19:50826601C>A	ENST00000477616.1	-	2	1903	c.1609G>T	c.(1609-1611)Gtc>Ttc	p.V537F	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.V537F|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	537					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)	TTGACAATGACGGGCACAGGC	0.617																																					p.V537F	Melanoma(91;1496 2324 50908)												.	.			0			c.G1609T												71	68	69					19																	50826601		2203	4300	6503	SO:0001583	missense	3748	exon2			CAATGACGGGCAC	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.1609G>T	19.37:g.50826601C>A	ENSP00000434241:p.Val537Phe		43	0	0		41	0.29	12	NM_004977	3	0.33	1		Missense_Mutation	SNP	ENST00000477616.1	37	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974692	0.74360	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.99080	-5.4;-5.4	3.26	3.26	0.37387	Ion transport (1);	0.000000	0.64402	U	0.000014	D	0.99099	0.9690	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98971	1.0801	10	0.87932	D	0	.	13.7855	0.63108	0.0:1.0:0.0:0.0	.	537;537	Q14003;E7ETH1	KCNC3_HUMAN;.	F	537;537;351	ENSP00000366158:V537F;ENSP00000434241:V537F	ENSP00000366158:V537F	V	-	1	0	KCNC3	55518413	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	7.477000	0.81069	1.841000	0.53522	0.491000	0.48974	GTC			0.617	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314288.2		NM_004977		A	50826601	C	A	50826601	3	1	127	1	0	0	0	0	1	0	0	0	8031	536	19	1	676	1	KCNC3	19	50826601	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	832257	50826601	8302382	115	9547											
NECAB3	63941	mdanderson.org	37	chr20	32247754	32247754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctcagggctcggcgtcCtgcccgccggctgccgcaga	4	6	13	18	5	1	1	1	0	0	1	4	1	3	1	5	3	2	3	5	3	0	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr20:32247754C>T	ENST00000246190.6	-	7	635	c.580G>A	c.(580-582)Gga>Aga	p.G194R	C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.G194R|RP1-63M2.6_ENST00000607224.1_RNA	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	194					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GCTCGGCGTCCTGCCCGCCGG	0.701																																					p.G194R													.	.			0			c.G580A												5	8	7					20																	32247754		1921	4019	5940	SO:0001583	missense	63941	exon7			GGCGTCCTGCCCG	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.580G>A	20.37:g.32247754C>T	ENSP00000246190:p.Gly194Arg		22	0	0		30	0.1	3	NM_031231	26	0	0	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531529	0.45073	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.25250	2.12;2.25;1.81	4.11	4.11	0.48088	.	0.059836	0.64402	D	0.000003	T	0.40067	0.1102	L	0.52759	1.655	0.49213	D	0.999767	P;D;D	0.56746	0.783;0.977;0.977	P;P;P	0.60609	0.655;0.824;0.877	T	0.27673	-1.0067	10	0.87932	D	0	0.1113	12.5666	0.56314	0.0:1.0:0.0:0.0	.	71;194;194	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	R	194	ENSP00000364386:G194R;ENSP00000246190:G194R;ENSP00000392064:G194R	ENSP00000246190:G194R	G	-	1	0	NECAB3	31711415	0.008000	0.16893	1.000000	0.80357	0.013000	0.08279	1.324000	0.33712	2.219000	0.72066	0.462000	0.41574	GGA			0.701	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000078724.2				T	32247754	C	T	32247754	3	4	127	1	0	0	0	0	1	0	0	0	10323	690	24	3	634	3	NECAB3	20	32247754	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10		32247754	30777766	116	9548											
ZMYND8	23613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	45905062	45905062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcacggagctgacctgtGctcttatccaggaagtccat	8	9	10	14	2	1	1	0	1	1	0	3	3	3	3	4	2	2	3	4	2	2	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr20:45905062G>C	ENST00000311275.7	-	11	1669	c.1416C>G	c.(1414-1416)agC>agG	p.S472R	ZMYND8_ENST00000446994.2_Missense_Mutation_p.S409R|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S467R|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S492R|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S472R|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S499R|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S492R|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S467R|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S467R|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S472R|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S467R|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S492R|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S472R	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	472					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)			GCTGACCTGTGCTCTTATCCA	0.637																																					p.S492R													ZMYND8_ENST00000536340,NS,carcinoma,-2,2	ZMYND8_ENST00000536340	-2	2	0			c.C1476G												39	33	35					20																	45905062		2203	4300	6503	SO:0001583	missense	23613	exon11			ACCTGTGCTCTTA	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.1416C>G	20.37:g.45905062G>C	ENSP00000312237:p.Ser472Arg		28	0	0		37	0.27	10	NM_183047	171	0.38	65	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	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.87|16.87	3.242343|3.242343	0.58995|0.58995	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89617	.|-1.68;-1.58;-1.69;-1.58;-1.58;-1.57;-1.69;-1.58;-1.58;-2.54;-1.58;-1.68;-1.65	5.51|5.51	3.58|3.58	0.41010|0.41010	.|.	.|0.276491	.|0.38663	.|N	.|0.001620	D|D	0.88381|0.88381	0.6421|0.6421	L|L	0.34521|0.34521	1.04|1.04	0.37705|0.37705	D|D	0.924377|0.924377	.|D;P;P;P;P;P;P;P;P;P;P;P;P;P;P;B;P;P	.|0.62365	.|0.991;0.811;0.743;0.908;0.841;0.924;0.811;0.811;0.944;0.698;0.811;0.743;0.843;0.843;0.922;0.144;0.904;0.743	.|P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;B;P;P	.|0.59546	.|0.859;0.66;0.632;0.717;0.532;0.694;0.568;0.568;0.499;0.465;0.465;0.694;0.689;0.694;0.632;0.075;0.632;0.694	D|D	0.87312|0.87312	0.2312|0.2312	5|10	.|0.38643	.|T	.|0.18	-13.3397|-13.3397	10.3549|10.3549	0.43958|0.43958	0.2277:0.0:0.7723:0.0|0.2277:0.0:0.7723:0.0	.|.	.|467;499;467;467;447;466;492;472;467;492;492;472;409;467;467;492;467;472	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	D|R	399|467;472;467;472;492;492;472;499;472;409;492;467;467	.|ENSP00000354166:S467R;ENSP00000312237:S472R;ENSP00000392964:S467R;ENSP00000262975:S472R;ENSP00000420095:S492R;ENSP00000335537:S492R;ENSP00000379577:S472R;ENSP00000439800:S499R;ENSP00000348246:S472R;ENSP00000396725:S409R;ENSP00000418210:S492R;ENSP00000361093:S467R;ENSP00000443086:S467R	.|ENSP00000262975:S472R	H|S	-|-	1|3	0|2	ZMYND8|ZMYND8	45338469|45338469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.074000|2.074000	0.41529|0.41529	0.707000|0.707000	0.31934|0.31934	0.655000|0.655000	0.94253|0.94253	CAC|AGC			0.637	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000079596.2		NM_183047		C	45905062	G	C	45905062	3	2	127	1	0	0	0	0	1	0	0	0	17734	1310	46	5	2142	5	ZMYND8	20	45905062	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	13657308	45905062	17120458	117	9549											
CYP24A1	1591	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	52789455	52789455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattggactcacaggatcaGcagcccgtagccttctttgc	8	10	11	12	1	3	0	2	0	1	0	3	3	3	3	2	3	4	2	2	3	1	4			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr20:52789455G>T	ENST00000216862.3	-	2	835	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	CYP24A1_ENST00000395954.3_5'Flank|CYP24A1_ENST00000395955.3_Missense_Mutation_p.L148M	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	148					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)	CACAGGATCAGCAGCCCGTAG	0.617																																					p.L148M													.	CYP24A1	75		0			c.C442A												92	83	86					20																	52789455		2203	4300	6503	SO:0001583	missense	1591	exon2			GGATCAGCAGCCC	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.442C>A	20.37:g.52789455G>T	ENSP00000216862:p.Leu148Met		53	0	0		43	0.09	4	NM_000782	0		0	Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864388	0.51482	.	.	ENSG00000019186	ENST00000216862;ENST00000395955	T;T	0.71103	-0.54;-0.54	5.21	1.82	0.25136	.	0.129851	0.53938	N	0.000057	T	0.78175	0.4242	M	0.82323	2.585	0.80722	D	1	P;B	0.35872	0.525;0.383	P;P	0.46629	0.522;0.522	T	0.76945	-0.2771	10	0.49607	T	0.09	-10.8908	13.1117	0.59277	0.0:0.0:0.4995:0.5005	.	148;148	Q32ML3;Q07973	.;CP24A_HUMAN	M	148	ENSP00000216862:L148M;ENSP00000379285:L148M	ENSP00000216862:L148M	L	-	1	2	CYP24A1	52222862	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	2.443000	0.44881	0.067000	0.16545	-0.314000	0.08810	CTG			0.617	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079769.2				T	52789455	G	T	52789455	3	4	127	1	0	0	0	0	1	0	0	0	4156	962	34	2	1142	2	CYP24A1	20	52789455	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	6884393	52789455	10236065	118	9550											
ITGB2	3689	mdanderson.org	37	chr21	46311735	46311735	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcacctgcagatgccGcactccaagaagcccttgcc	8	6	8	19	2	1	2	1	0	0	2	2	2	2	2	7	0	4	2	7	0	2	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr21:46311735G>T	ENST00000397850.2	-	12	1853	c.1401C>A	c.(1399-1401)tgC>tgA	p.C467*	ITGB2_ENST00000397852.1_Nonsense_Mutation_p.C467*|ITGB2_ENST00000355153.4_Nonsense_Mutation_p.C467*|ITGB2_ENST00000397854.3_Nonsense_Mutation_p.C410*|ITGB2_ENST00000397857.1_Nonsense_Mutation_p.C467*|ITGB2_ENST00000302347.5_Nonsense_Mutation_p.C467*			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	467	Cysteine-rich tandem repeats.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCAGATGCCGCACTCCAAGA	0.667																																					p.C467X													.	.			0			c.C1401A												54	52	52					21																	46311735		2203	4300	6503	SO:0001587	stop_gained	3689	exon11			GATGCCGCACTCC	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1401C>A	21.37:g.46311735G>T	ENSP00000380948:p.Cys467*		30	0	0		22	0.09	2	NM_000211	151	0	0	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Nonsense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	G	40	8.179136	0.98691	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	.	.	.	5.54	-11.1	0.00147	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6088	0.88046	0.3766:0.0:0.6234:0.0	.	.	.	.	X	467;467;410;467;467;467	.	ENSP00000303242:C467X	C	-	3	2	ITGB2	45136163	0.020000	0.18652	0.199000	0.23439	0.833000	0.47200	-0.745000	0.04834	-2.005000	0.00959	-1.021000	0.02439	TGC			0.667	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206566.2		NM_000211		T	46311735	G	T	46311735	4	4	127	1	0	0	0	0	0	1	0	0	7909	1079	38	1	932	1	ITGB2	21	46311735	Nonsense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		46311735	1818160	119	9551											
ZNF280B	140883	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	22842853	22842853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctcctttatgctgtcCatagtaaaagtcactaagta	11	14	5	11	0	2	0	1	0	1	0	4	0	3	0	3	0	1	3	3	0	6	7			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr22:22842853C>G	ENST00000406426.1	-	4	1613	c.871G>C	c.(871-873)Gga>Cga	p.G291R	ZNF280B_ENST00000360412.2_Missense_Mutation_p.G291R			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	291					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)		TTATGCTGTCCATAGTAAAAG	0.378																																					p.G291R													.	.			0			c.G871C												124	115	118					22																	22842853		2203	4300	6503	SO:0001583	missense	140883	exon4			GCTGTCCATAGTA	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.871G>C	22.37:g.22842853C>G	ENSP00000385998:p.Gly291Arg		80	0	0		64	0.34	22	NM_080764	14	0.5	7		Missense_Mutation	SNP	ENST00000406426.1	37	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091501	0.76756	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.04049	3.72;3.72	4.43	4.43	0.53597	.	.	.	.	.	T	0.22513	0.0543	M	0.79805	2.47	0.44402	D	0.997311	D	0.89917	1.0	D	0.91635	0.999	T	0.00717	-1.1596	9	0.87932	D	0	-11.5729	14.9439	0.71014	0.0:1.0:0.0:0.0	.	291	Q86YH2	Z280B_HUMAN	R	291	ENSP00000385998:G291R;ENSP00000353586:G291R	ENSP00000353586:G291R	G	-	1	0	ZNF280B	21172853	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	6.226000	0.72277	2.471000	0.83476	0.655000	0.94253	GGA			0.378	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321170.2		NM_080764		G	22842853	C	G	22842853	3	3	127	1	0	0	0	0	1	0	0	0	17838	603	21	5	764	5	ZNF280B	22	22842853	Missense_Mutation	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10		22842853	28461713	120	9552											
SLC2A11	66035	mdanderson.org	37	chr22	24224967	24224967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacgcctacgcctcctccGtgttccggaaggcaggagtg	6	9	13	13	4	0	0	0	0	0	0	3	2	3	2	5	3	2	3	5	3	3	3			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr22:24224967G>T	ENST00000345044.6	+	8	1163	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000316185.8_Missense_Mutation_p.V302L|RN7SL268P_ENST00000491172.2_RNA|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Missense_Mutation_p.V306L			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	299					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CGCCTCCTCCGTGTTCCGGAA	0.647																																					p.V306L													.	.			0			c.G916T												78	53	62					22																	24224967		2203	4300	6503	SO:0001583	missense	66035	exon9			TCCTCCGTGTTCC	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.895G>T	22.37:g.24224967G>T	ENSP00000342542:p.Val299Leu		44	0	0		43	0.07	3	NM_030807	6	0	0	E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	CCDS46673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.680050|2.680050	0.47886|0.47886	.|.	.|.	ENSG00000251357|ENSG00000133460	ENST00000421180|ENST00000345044;ENST00000398356;ENST00000398363;ENST00000398359;ENST00000407566;ENST00000316185	.|T;T;T	.|0.72615	.|-0.67;-0.67;-0.67	4.12|4.12	1.97|1.97	0.26223|0.26223	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.216139	.|0.37955	.|N	.|0.001871	T|T	0.58666|0.58666	0.2138|0.2138	L|L	0.36672|0.36672	1.1|1.1	0.22226|0.22226	N|N	0.999276|0.999276	.|P;P;B;P;P	.|0.40302	.|0.712;0.563;0.013;0.617;0.455	.|B;B;B;B;B	.|0.42798	.|0.142;0.277;0.029;0.398;0.395	T|T	0.48163|0.48163	-0.9059|-0.9059	5|9	.|.	.|.	.|.	.|.	6.7624|6.7624	0.23548|0.23548	0.3158:0.0:0.6841:0.0|0.3158:0.0:0.6841:0.0	.|.	.|306;302;299;306;306	.|E7ENI4;Q9BYW1-3;Q9BYW1;E9PH55;Q6P4C1	.|.;.;GTR11_HUMAN;.;.	L|L	162|299;306;248;306;306;302	.|ENSP00000342542:V299L;ENSP00000381399:V306L;ENSP00000326748:V302L	.|.	R|V	+|+	2|1	0|0	AP000350.10|SLC2A11	22554967|22554967	0.161000|0.161000	0.22892|0.22892	0.368000|0.368000	0.25939|0.25939	0.002000|0.002000	0.02628|0.02628	0.416000|0.416000	0.21198|0.21198	0.469000|0.469000	0.27268|0.27268	-0.223000|-0.223000	0.12442|0.12442	CGT|GTG			0.647	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319889.3		NM_030807		T	24224967	G	T	24224967	3	4	127	1	0	0	0	0	1	0	0	0	14563	1145	40	1	1005	1	SLC2A11	22	24224967	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	1382114	24224967	27079599	121	9553											
MN1	4330	mdanderson.org	37	chr22	28196364	28196364	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaagatcgggggttcGcccagcgcgctcatagcagg	8	6	14	13	4	1	1	1	0	0	1	3	1	1	1	2	3	3	3	2	3	2	2			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chr22:28196364G>T	ENST00000302326.4	-	1	1122	c.168C>A	c.(166-168)ggC>ggA	p.G56G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	56					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCGGGGGTTCGCCCAGCGCGC	0.657			T	ETV6	"AML, meningioma"																																p.G56G				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	.			0			c.C168A												51	56	54					22																	28196364		1915	4113	6028	SO:0001819	synonymous_variant	4330	exon1			GGGTTCGCCCAGC	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.168C>A	22.37:g.28196364G>T			40	0	0		36	0.08	3	NM_002430	16	0	0	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																					0.657	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320737.1		NM_002430		T	28196364	G	T	28196364	2	4	127	1	0	0	0	0	0	0	0	1	9689	1074	38	1		1	MN1	22	28196364	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	3971397	28196364	23108202	122	9554											
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	31950249	31950249	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttttccaggttcaagtGggatactagcaatgttatct	9	15	9	8	0	3	0	1	0	2	0	4	1	4	1	1	2	2	4	1	2	5	6			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chrX:31950249G>C	ENST00000357033.4	-	46	6916	c.6710C>G	c.(6709-6711)cCa>cGa	p.P2237R	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.P2233R|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_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	2237					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)				AGGTTCAAGTGGGATACTAGC	0.368																																					p.P2237R													.	.			0			c.C6710G												115	107	110					X																	31950249		2202	4300	6502	SO:0001583	missense	1756	exon46			TCAAGTGGGATAC	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.6710C>G	X.37:g.31950249G>C	ENSP00000354923:p.Pro2237Arg		68	0	0		76	0.18	14	NM_004006	0		0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	g	16.23	3.064978	0.55432	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48201	0.82;0.82	5.81	5.81	0.92471	.	0.000000	0.36815	U	0.002390	T	0.65657	0.2712	L	0.58101	1.795	0.80722	D	1	B;D;D;D;D;D	0.76494	0.247;0.998;0.999;0.999;0.999;0.996	B;D;D;D;D;D	0.83275	0.109;0.962;0.977;0.977;0.996;0.967	T	0.58945	-0.7546	10	0.22109	T	0.4	.	19.0034	0.92842	0.0:0.0:1.0:0.0	.	896;2229;2237;2233;896;893	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	R	2229;896;893;2233;2237;2237;2114	ENSP00000367948:P2233R;ENSP00000354923:P2237R	ENSP00000354923:P2237R	P	-	2	0	DMD	31860170	1.000000	0.71417	0.193000	0.23327	0.566000	0.35808	5.206000	0.65192	2.437000	0.82529	0.591000	0.81541	CCA			0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056182.2		NM_004006		C	31950249	G	C	31950249	3	2	127	1	0	0	0	0	1	0	0	0	4585	1348	47	5	4631	5	DMD	23	31950249	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10		31950249	123320311	123	9555											
ZXDA	7789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	57936054	57936054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacagcgcctcggggcacagGtacagcaccacgcctggacc	9	3	12	17	3	0	0	0	0	0	0	1	1	0	1	4	4	3	3	4	4	1	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chrX:57936054G>A	ENST00000358697.4	-	1	1013	c.801C>T	c.(799-801)taC>taT	p.Y267Y		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	267	Required for interaction with ZXDC.				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						CGGGGCACAGGTACAGCACCA	0.716																																					p.Y267Y													.	.			0			c.C801T												11	12	12					X																	57936054		2189	4287	6476	SO:0001819	synonymous_variant	7789	exon1			GCACAGGTACAGC	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.801C>T	X.37:g.57936054G>A			68	0	0		68	0.35	24	NM_007156	2	1	2	Q9UJP7	Silent	SNP	ENST00000358697.4	37	CCDS14376.1																																																																																					0.716	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056925.1		NM_007156		A	57936054	G	A	57936054	2	1	127	1	0	0	0	0	0	0	0	1	18273	1256	44	3		3	ZXDA	23	57936054	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	25985805	57936054	97334506	124	9556											
SASH3	54440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	128925040	128925040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaacttccggtgctcaGccgccaggcatcaacaggtg	9	7	12	13	2	2	1	2	1	0	0	3	1	3	1	3	3	4	3	3	3	2	1			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chrX:128925040G>A	ENST00000356892.3	+	4	539	c.425G>A	c.(424-426)aGc>aAc	p.S142N		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	142					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCGGTGCTCAGCCGCCAGGCA	0.617																																					p.S142N													.	.			0			c.G425A												44	40	41					X																	128925040		2203	4300	6503	SO:0001583	missense	54440	exon4			TGCTCAGCCGCCA	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.425G>A	X.37:g.128925040G>A	ENSP00000349359:p.Ser142Asn		189	0	0		233	0.43	100	NM_018990	18	0	0	A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717024	0.48622	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	T	0.64991	-0.13	5.72	2.96	0.34315	.	0.221618	0.53938	D	0.000048	T	0.66577	0.2803	L	0.43152	1.355	0.45930	D	0.998763	D;B	0.69078	0.997;0.001	D;B	0.79108	0.992;0.002	T	0.63305	-0.6667	10	0.56958	D	0.05	-9.1285	4.901	0.13775	0.1823:0.0:0.6497:0.168	.	110;142	B4DKQ0;O75995	.;SASH3_HUMAN	N	110;142	ENSP00000349359:S142N	ENSP00000349359:S142N	S	+	2	0	SASH3	128752721	1.000000	0.71417	0.697000	0.30258	0.374000	0.29953	3.033000	0.49743	0.185000	0.20105	0.544000	0.68410	AGC			0.617	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058208.1		NM_018990		A	128925040	G	A	128925040	3	1	127	1	0	0	0	0	1	0	0	0	13872	971	34	2	439	2	SASH3	23	128925040	Missense_Mutation	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	70988986	128925040	26345520	125	9557											
GPC3	2719	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	133119396	133119396	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtccggcggcggcggCgggggctgcgcctgtcccgg	0	5	22	14	8	0	0	0	0	0	0	2	0	2	0	3	8	1	1	3	8	0	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chrX:133119396C>G	ENST00000370818.3	-	1	526	c.81G>C	c.(79-81)ccG>ccC	p.P27P	GPC3_ENST00000543339.1_Silent_p.P27P|GPC3_ENST00000394299.2_Silent_p.P27P	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	27					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GCGGCGGCGGCGGGGGCTGCG	0.687			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.P27P			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	GPC3	88		0			c.G81C												14	14	14					X																	133119396		2189	4277	6466	SO:0001819	synonymous_variant	2719	exon1	Familial Cancer Database	SGBS	CGGCGGCGGGGGC	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.81G>C	X.37:g.133119396C>G			110	0.0181818182	2		151	0.05	7	NM_001164617	32	0	0	C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	CCDS14638.1																																																																																					0.687	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058356.1		NM_004484		G	133119396	C	G	133119396	2	3	127	1	0	0	0	0	0	0	0	1	6613	755	27	5		5	GPC3	23	133119396	Silent	SNP	C	TCGA-XY-A8S2-01A-11D-A435-10	4194356	133119396	22151164	126	9558											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-																															cctctccagattcctgtgagCtcctcctcctcctcctccac																								rs372076984|rs144357389		TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										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)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																											p.483_484del													.	MAGEC1	317		0			c.1449_1451del																																									SO:0001651	inframe_deletion	9947	exon4			TGTGAGCTCCTCC	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.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del		158	0	0		197	0.04	8	NM_005462	0		0	A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	CCDS35417.1																																																																																					0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058604.1		NM_005462		-	140994641	CTC	-	140994639	7	5	127	1	0	1	0	1	0	0	0	0	9196	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-XY-A8S2-01A-11D-A435-10	7875243	140994639	14275921	127	9559											
HMGB3	3149	mdanderson.org	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-XY-A8S2-01A-11D-A435-10	TCGA-XY-A8S2-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	63bb0810-bd3e-4f54-bd20-4b016522d054	a7a967d7-1710-4c00-93cf-9d80cebc0e56	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				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)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																					p.E192E													.	.			1	Substitution - coding silent(1)	large_intestine(1)	c.G576A												50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149	exon5			AGAAGAGGAGGAG	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.576G>A	X.37:g.150156360G>A			11	0	0		24	0.08	2	NM_005342	196	0.01	2	O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	CCDS35428.1																																																																																					0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060867.1		NM_005342		A	150156360	G	A	150156360	2	1	127	1	0	0	0	0	0	0	0	1	7242	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-XY-A8S2-01A-11D-A435-10	9161721	150156360	5114200	128	9560											
MAN1C1	57134	mdanderson.org	37	chr1	25944310	25944310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatgaggaaagtgcccGgcttcgtcccggcctccccg	5	8	12	16	4	1	1	1	1	0	0	4	2	3	2	5	3	2	2	5	3	1	1			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr1:25944310G>T	ENST00000374332.4	+	1	352	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C	MAN1C1_ENST00000263979.3_5'Flank	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	8					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GAAAGTGCCCGGCTTCGTCCC	0.706																																					p.G8C													.	.			0			c.G22T												11	14	13					1																	25944310		2183	4285	6468	SO:0001583	missense	57134	exon1			GTGCCCGGCTTCG	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.22G>T	1.37:g.25944310G>T	ENSP00000363452:p.Gly8Cys		55	0	0		46	0.07	3	NM_020379	111	0	0	A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	CCDS265.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.154669	0.78114	.	.	ENSG00000117643	ENST00000374332	D	0.98684	-5.07	3.53	3.53	0.40419	.	0.308584	0.20358	U	0.093913	D	0.97120	0.9059	L	0.29908	0.895	0.80722	D	1	D	0.52996	0.957	P	0.52481	0.7	D	0.96144	0.9102	10	0.48119	T	0.1	.	10.9465	0.47304	0.0:0.0:1.0:0.0	.	8	Q9NR34	MA1C1_HUMAN	C	8	ENSP00000363452:G8C	ENSP00000363452:G8C	G	+	1	0	MAN1C1	25816897	1.000000	0.71417	0.993000	0.49108	0.894000	0.52154	4.681000	0.61663	1.986000	0.57962	0.546000	0.68486	GGC			0.706	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012828.3		NM_020379		T	25944310	G	T	25944310	3	4	128	1	0	0	0	0	1	0	0	0	9229	1116	39	1	24	1	MAN1C1	1	25944310	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		25944310	223306311	1	9561											
MAP3K6	9064	broad.mit.edu;ucsc.edu	37	chr1	27686379	27686379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcacgatgtggttgtcGtgcaagtagccaagtccctg	7	11	13	10	2	0	0	0	0	0	0	2	1	1	0	2	1	3	4	2	1	3	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr1:27686379G>T	ENST00000493901.1	-	18	2528	c.2289C>A	c.(2287-2289)caC>caA	p.H763Q	MAP3K6_ENST00000374040.3_Missense_Mutation_p.H755Q|MAP3K6_ENST00000357582.2_Missense_Mutation_p.H763Q	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	763	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)		TGTGGTTGTCGTGCAAGTAGC	0.602																																					p.H763Q													.	MAP3K6	134		0			c.C2289A												115	105	108					1																	27686379		2203	4300	6503	SO:0001583	missense	9064	exon17			GTTGTCGTGCAAG	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.2289C>A	1.37:g.27686379G>T	ENSP00000419591:p.His763Gln		86	0.011627907	1		80	0.14	11	NM_004672	16	0	0	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.65|14.65	2.599442|2.599442	0.46318|0.46318	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582|ENST00000472410	D;D;D|.	0.84516|.	-1.86;-1.86;-1.86|.	5.03|5.03	-5.62|-5.62	0.02481|0.02481	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	D|D	0.82793|0.82793	0.5114|0.5114	H|H	0.94183|0.94183	3.505|3.505	0.48185|0.48185	D|D	0.999603|0.999603	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.86254|0.86254	0.1651|0.1651	9|5	0.87932|.	D|.	0|.	.|.	15.152|15.152	0.72706|0.72706	0.3845:0.0:0.6155:0.0|0.3845:0.0:0.6155:0.0	.|.	755;763|.	O95382-3;O95382|.	.;M3K6_HUMAN|.	Q|K	755;763;486;763|487	ENSP00000363152:H755Q;ENSP00000419591:H763Q;ENSP00000350195:H763Q|.	ENSP00000350195:H763Q|.	H|T	-|-	3|2	2|0	MAP3K6|MAP3K6	27558966|27558966	0.001000|0.001000	0.12720|0.12720	0.900000|0.900000	0.35374|0.35374	0.322000|0.322000	0.28314|0.28314	-1.313000|-1.313000	0.02718|0.02718	-1.223000|-1.223000	0.02584|0.02584	-1.036000|-1.036000	0.02392|0.02392	CAC|ACG			0.602	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000013469.2		NM_004672		T	27686379	G	T	27686379	3	4	128	1	0	0	0	0	1	0	0	0	9270	1136	40	1	1629	1	MAP3K6	1	27686379	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	1742069	27686379	221564242	2	9562											
PRPF38B	55119	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	109242141	109242142	+	Frame_Shift_Del	DEL	AG	AG	-																															agaggaaatgaacgagaaaaAgagagagagcgatcaagaga																										TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr1:109242141_109242142delAG	ENST00000370025.4	+	6	1409_1410	c.1140_1141delAG	c.(1138-1143)aaagagfs	p.E381fs	PRPF38B_ENST00000370021.1_Frame_Shift_Del_p.E270fs	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	381	Arg-rich.				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)		aacgagaaaaagagagagagcg	0.436																																					p.380_380del													PRPF38B,colon,carcinoma,0,1	PRPF38B	55		0			c.1139_1140del																																									SO:0001589	frameshift_variant	55119	exon6			AGAAAAAGAGAGA	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.1140_1141delAG	1.37:g.109242149_109242150delAG	ENSP00000359042:p.Glu381fs		94	0	0		81	0.28	23	NM_018061	193	0	0	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Frame_Shift_Del	DEL	ENST00000370025.4	37	CCDS788.1																																																																																					0.436	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030231.1		NM_018061		-	109242142	AG	-	109242141	7	5	128	1	0	1	0	1	0	0	0	0	12588	69	3	0	1162	0	PRPF38B	1	109242141	Frame_Shift_Del	DEL	AG	TCGA-XY-A8S3-01B-11D-A435-10	81555762	109242141	140008480	3	9563											
NBPF15	284565	hgsc.bcm.edu	37	chr1	148579688	148579688	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagcttgcagagcagctCaagcaagctgaggagctcag	13	5	14	9	0	2	3	2	1	0	2	2	5	2	4	0	1	7	7	0	1	3	1	rs202153254		TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr1:148579688C>G	ENST00000369187.3	+	6	747	c.258C>G	c.(256-258)ctC>ctG	p.L86L	NBPF15_ENST00000442702.2_Silent_p.L86L|NBPF15_ENST00000464336.2_3'UTR	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	86						cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CAGAGCAGCTCAAGCAAGCTG	0.512																																					p.L86L													NBPF15,face,carcinoma,+2,1	NBPF15	2	1	0			c.C258G												5	8	7					1																	148579688		840	1968	2808	SO:0001819	synonymous_variant	728936	exon3			GCAGCTCAAGCAA	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.258C>G	1.37:g.148579688C>G			33	0	0		32	0.13	4	NM_001102663	8	0	0	Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	CCDS932.1																																																																																			0.001		0.512	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000038609.3		NM_173638		G	148579688	C	G	148579688	2	3	128	1	0	0	0	0	0	0	0	1	10212	813	29	5		5	NBPF15	1	148579688	Silent	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	39337547	148579688	100670933	4	9564											
C1orf182	128229	broad.mit.edu	37	chr1	156314421	156314421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgtagagcaaaacccTcccccagctatattaatctt	11	12	4	14	0	2	1	0	0	2	1	4	1	3	1	3	0	3	3	3	0	6	5	rs149637850	byFrequency	TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr1:156314421T>C	ENST00000368255.3	+	3	445	c.85T>C	c.(85-87)Tcc>Ccc	p.S29P	TSACC_ENST00000368252.1_Missense_Mutation_p.S29P|TSACC_ENST00000470342.1_Missense_Mutation_p.S29P|TSACC_ENST00000466306.1_Missense_Mutation_p.S29P|TSACC_ENST00000481479.1_Missense_Mutation_p.S29P|TSACC_ENST00000368251.1_Missense_Mutation_p.S29P|TSACC_ENST00000368253.2_Missense_Mutation_p.S29P|TSACC_ENST00000368254.1_Missense_Mutation_p.S29P	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	29						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										AGCAAAACCCTCCCCCAGCTA	0.468																																					p.S29P													.	.			0			c.T85C												92	92	92					1																	156314421		2203	4300	6503	SO:0001583	missense	128229	exon3			AAACCCTCCCCCA	AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"SSTK-interacting protein"		"chromosome 1 open reading frame 182"	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.85T>C	1.37:g.156314421T>C	ENSP00000357238:p.Ser29Pro		91	0.032967033	3		75	0.11	8	NM_144627	23	0	0	D3DVB9	Missense_Mutation	SNP	ENST00000368255.3	37	CCDS1141.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582359	0.65992	.	.	ENSG00000163467	ENST00000368255;ENST00000368254;ENST00000368253;ENST00000368252;ENST00000368251	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.86	3.72	0.42706	.	0.000000	0.44483	D	0.000448	T	0.45955	0.1368	L	0.32530	0.975	0.31276	N	0.691214	D	0.57899	0.981	P	0.61275	0.886	T	0.50021	-0.8876	10	0.87932	D	0	-6.5054	7.8292	0.29332	0.1841:0.0:0.0:0.8159	.	29	Q96A04	CA182_HUMAN	P	29	ENSP00000357238:S29P;ENSP00000357237:S29P;ENSP00000357236:S29P;ENSP00000357235:S29P;ENSP00000357234:S29P	ENSP00000357234:S29P	S	+	1	0	C1orf182	154581045	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	1.656000	0.37355	0.866000	0.35629	0.402000	0.26972	TCC			0.468	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060594.1		NM_144627		C	156314421	T	C	156314421	3	2	128	1	0	0	0	0	1	0	0	0	2020	1551	54	4	91	4	C1orf182	1	156314421	Missense_Mutation	SNP	T	TCGA-XY-A8S3-01B-11D-A435-10	7734733	156314421	92936200	5	9565											
OR6K6	128371	broad.mit.edu	37	chr1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttgttatccttgctcccTttttcaaccccatcatctat	6	19	2	14	0	3	0	2	0	1	0	5	0	5	0	4	0	2	2	4	0	3	7			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	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																																					p.F311L													.	OR6K6	81		0			c.T931C												149	140	143					1																	158725536		2203	4300	6503	SO:0001583	missense	128371	exon1			GCTCCCTTTTTCA	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		174	0	0		168	0.02	4	NM_001005184	0		0	B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	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		C	158725536	T	C	158725536	3	2	128	1	0	0	0	0	1	0	0	0	11221	1609	56	4	933	4	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-XY-A8S3-01B-11D-A435-10	2411115	158725536	90525085	6	9566											
FMN2	56776	broad.mit.edu	37	chr1	240371139	240371139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcccggagcgggcataccCcctcctccccctcttcccgg	3	8	8	22	3	1	0	0	0	1	0	5	1	5	1	7	3	2	1	7	3	1	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr1:240371139C>T	ENST00000319653.9	+	5	3257	c.3027C>T	c.(3025-3027)ccC>ccT	p.P1009P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1009	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCTCCTCCCC	0.731																																					p.P1009P													.	FMN2	451		0			c.C3027T																																									SO:0001819	synonymous_variant	56776	exon5			CATACCCCCTCCT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3027C>T	1.37:g.240371139C>T			101	0.0099009901	1		103	0.05	5	NM_020066	0		0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																					0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		T	240371139	C	T	240371139	2	4	128	1	0	0	0	0	0	0	0	1	5963	610	22	3		3	FMN2	1	240371139	Silent	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	81645603	240371139	8879482	7	9567											
ANKRD36	375248	hgsc.bcm.edu	37	chr2	97853095	97853095	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggaagactctgtttcGaatatagccacagaaataaa	17	8	9	7	2	1	2	0	0	1	2	2	6	1	3	1	1	1	1	1	1	7	4	rs553912698		TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr2:97853095G>T	ENST00000461153.2	+	32	2344	c.2100G>T	c.(2098-2100)tcG>tcT	p.S700S	ANKRD36_ENST00000420699.2_Silent_p.S700S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	700										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ACTCTGTTTCGAATATAGCCA	0.313																																					p.S700S													ANKRD36_ENST00000420699,NS,carcinoma,0,4	ANKRD36_ENST00000420699	0	4	0			c.G2100T												33	28	30					2																	97853095		692	1590	2282	SO:0001819	synonymous_variant	375248	exon32			TGTTTCGAATATA	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.2100G>T	2.37:g.97853095G>T			89	0	0		74	0.05	4	NM_001164315	0		0	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	CCDS54379.1																																																																																					0.313	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339154.5				T	97853095	G	T	97853095	2	4	128	1	0	0	0	0	0	0	0	1	665	1045	37	1		1	ANKRD36	2	97853095	Silent	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		97853095	145346278	8	9568											
C3orf31	132001	mdanderson.org	37	chr3	11871318	11871318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctaagagtgacatcctcGttcactgagataattttcac	12	13	7	9	1	3	3	2	2	1	2	5	5	4	3	1	0	0	1	1	0	2	5	rs144979072	byFrequency	TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr3:11871318G>T	ENST00000444133.2	-	4	574	c.432C>A	c.(430-432)aaC>aaA	p.N144K	TAMM41_ENST00000273037.5_Missense_Mutation_p.N144K|TAMM41_ENST00000455809.1_Missense_Mutation_p.N144K			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	144					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										TGACATCCTCGTTCACTGAGA	0.443																																					p.N144K													.	.			0			c.C432A												90	92	92					3																	11871318		2203	4300	6503	SO:0001583	missense	132001	exon4			ATCCTCGTTCACT		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"chromosome 3 open reading frame 31"	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.432C>A	3.37:g.11871318G>T	ENSP00000388598:p.Asn144Lys		34	0	0		35	0.09	3	NM_138807	66	0	0	B4DIY7|C9J2U4	Missense_Mutation	SNP	ENST00000444133.2	37		.	.	.	.	.	.	.	.	.	.	G	6.482	0.457101	0.12283	.	.	ENSG00000144559	ENST00000455809;ENST00000273037;ENST00000444133	T;T;T	0.28666	1.6;1.6;1.6	5.41	-1.66	0.08265	.	0.293563	0.42420	D	0.000711	T	0.14960	0.0361	L	0.35288	1.05	0.42164	D	0.991617	B;B;B	0.26902	0.163;0.002;0.002	B;B;B	0.22880	0.042;0.006;0.016	T	0.15150	-1.0447	10	0.11794	T	0.64	-54.0136	5.4982	0.16815	0.4267:0.252:0.3212:0.0	.	144;144;144	B4DIY7;C9J2U4;Q96BW9	.;.;TAM41_HUMAN	K	144	ENSP00000398596:N144K;ENSP00000273037:N144K;ENSP00000388598:N144K	ENSP00000273037:N144K	N	-	3	2	TAMM41	11846318	0.999000	0.42202	0.960000	0.40013	0.018000	0.09664	1.071000	0.30666	-0.102000	0.12197	-1.264000	0.01445	AAC			0.443	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000339258.2		NM_138807		T	11871318	G	T	11871318	3	4	128	1	0	0	0	0	1	0	0	0	2223	1136	40	1	534	1	C3orf31	3	11871318	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		11871318	186151112	9	9569											
NEK10	152110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	27326130	27326130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatcccccaacataatgttGtttggtgtcagatctctatg	9	16	7	9	0	2	1	1	0	1	1	4	1	3	1	2	1	1	2	2	1	4	5			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr3:27326130G>C	ENST00000429845.2	-	23	2339	c.1977C>G	c.(1975-1977)aaC>aaG	p.N659K	NEK10_ENST00000357467.2_Missense_Mutation_p.N56K|NEK10_ENST00000341435.5_Missense_Mutation_p.N659K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	659	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> S (in dbSNP:rs55833401). {ECO:0000269|PubMed:17344846}.		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						ACATAATGTTGTTTGGTGTCA	0.338																																					p.N659K													NEK10_ENST00000429845,NS,lymphoid_neoplasm,0,3	NEK10_ENST00000429845	0	3	0			c.C1977G												157	146	149					3																	27326130		2203	4300	6503	SO:0001583	missense	152110	exon23			AATGTTGTTTGGT	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.1977C>G	3.37:g.27326130G>C	ENSP00000395849:p.Asn659Lys		73	0	0		111	0.24	27	NM_199347	1	0	0	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.6|24.6|24.6	4.544765|4.544765|4.544765	0.86022|0.86022|0.86022	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435;ENST00000396636|ENST00000435584|ENST00000424275	T;T|.|.	0.39056|.|.	1.1;1.1|.|.	6.02|6.02|6.02	6.02|6.02|6.02	0.97574|0.97574|0.97574	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|T|T	0.52789|0.52789|0.52789	0.1756|0.1756|0.1756	N|N|N	0.12961|0.12961|0.12961	0.28|0.28|0.28	0.50632|0.50632|0.50632	D|D|D	0.99988|0.99988|0.99988	D;D|.|.	0.76494|.|.	0.999;0.987|.|.	D;P|.|.	0.74674|.|.	0.984;0.872|.|.	T|T|T	0.43782|0.43782|0.43782	-0.9370|-0.9370|-0.9370	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	.|.|.	20.5373|20.5373|20.5373	0.99239|0.99239|0.99239	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	659;56|.|.	Q6ZWH5;Q8N774|.|.	NEK10_HUMAN;.|.|.	K|E|R	56;659;659|116|146	ENSP00000350059:N56K;ENSP00000343847:N659K|.|.	ENSP00000343847:N659K|.|.	N|Q|T	-|-|-	3|1|2	2|0|0	NEK10|NEK10|NEK10	27301134|27301134|27301134	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	4.877000|4.877000|4.877000	0.63086|0.63086|0.63086	2.857000|2.857000|2.857000	0.98124|0.98124|0.98124	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	AAC|CAA|ACA			0.338	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000438156.1		NM_152534		C	27326130	G	C	27326130	3	2	128	1	0	0	0	0	1	0	0	0	10339	1368	48	5	173	5	NEK10	3	27326130	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	15454812	27326130	170696300	10	9570											
BSN	8927	mdanderson.org	37	chr3	49691578	49691578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccactccatcacctatggTagcccagggtacacaaacac	12	6	6	17	0	1	0	1	0	0	0	2	0	2	0	5	2	3	2	5	2	4	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr3:49691578T>C	ENST00000296452.4	+	5	4703	c.4589T>C	c.(4588-4590)gTa>gCa	p.V1530A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1530					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)		TCACCTATGGTAGCCCAGGGT	0.612																																					p.V1530A													.	.			0			c.T4589C												83	94	90					3																	49691578		2203	4300	6503	SO:0001583	missense	8927	exon5			CTATGGTAGCCCA	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.4589T>C	3.37:g.49691578T>C	ENSP00000296452:p.Val1530Ala		50	0	0		45	0.07	3	NM_003458	7	0	0	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123162	0.56613	.	.	ENSG00000164061	ENST00000296452	T	0.18016	2.24	5.25	5.25	0.73442	.	0.374770	0.28354	N	0.015658	T	0.19485	0.0468	L	0.57536	1.79	0.34993	D	0.755192	P	0.48089	0.905	B	0.44224	0.444	T	0.13045	-1.0524	10	0.07030	T	0.85	.	15.1443	0.72637	0.0:0.0:0.0:1.0	.	1530	Q9UPA5	BSN_HUMAN	A	1530	ENSP00000296452:V1530A	ENSP00000296452:V1530A	V	+	2	0	BSN	49666582	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.560000	0.45896	1.996000	0.58369	0.379000	0.24179	GTA			0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000258164.1		NM_003458		C	49691578	T	C	49691578	3	2	128	1	0	0	0	0	1	0	0	0	1532	1638	57	4	4607	4	BSN	3	49691578	Missense_Mutation	SNP	T	TCGA-XY-A8S3-01B-11D-A435-10	22365448	49691578	148330852	11	9571											
IGSF10	285313	mdanderson.org	37	chr3	151166918	151166918	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatttcagggatgagtcaAtggttggcttggcacactgg	8	13	14	6	0	2	2	2	2	0	0	2	3	2	3	0	5	0	3	0	5	1	4			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr3:151166918A>G	ENST00000282466.3	-	4	850	c.851T>C	c.(850-852)aTt>aCt	p.I284T		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	284					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)			GGATGAGTCAATGGTTGGCTT	0.498																																					p.I284T													.	.			0			c.T851C												138	133	135					3																	151166918		2203	4300	6503	SO:0001583	missense	285313	exon4			GAGTCAATGGTTG	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.851T>C	3.37:g.151166918A>G	ENSP00000282466:p.Ile284Thr		92	0	0		58	0.05	3	NM_178822	0		0	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704780	0.68615	.	.	ENSG00000152580	ENST00000282466	T	0.76186	-1.0	5.37	5.37	0.77165	.	0.000000	0.48286	D	0.000185	D	0.84202	0.5420	M	0.62723	1.935	0.47905	D	0.999544	D	0.89917	1.0	D	0.77004	0.989	D	0.86061	0.1532	10	0.87932	D	0	.	15.3735	0.74587	1.0:0.0:0.0:0.0	.	284	Q6WRI0	IGS10_HUMAN	T	284	ENSP00000282466:I284T	ENSP00000282466:I284T	I	-	2	0	IGSF10	152649608	1.000000	0.71417	0.333000	0.25482	0.884000	0.51177	8.962000	0.93254	2.041000	0.60428	0.528000	0.53228	ATT			0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357782.1		NM_178822		G	151166918	A	G	151166918	3	3	128	1	0	0	0	0	1	0	0	0	7612	101	4	4	7080	4	IGSF10	3	151166918	Missense_Mutation	SNP	A	TCGA-XY-A8S3-01B-11D-A435-10	101475340	151166918	46855512	12	9572											
TTC14	151613	mdanderson.org	37	chr3	180320160	180320160	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtagcctcctggggtcGgccgccgagccagcccgggg	3	6	16	16	5	0	0	0	0	0	0	3	1	2	0	7	5	3	1	7	5	1	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr3:180320160G>T	ENST00000296015.4	+	1	243	c.111G>T	c.(109-111)tcG>tcT	p.S37S	TTC14_ENST00000382584.4_Silent_p.S37S|RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000412756.2_Silent_p.S37S	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	37							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)			TCCTGGGGTCGGCCGCCGAGC	0.647																																					p.S37S													.	.			0			c.G111T												16	17	16					3																	180320160		2200	4298	6498	SO:0001819	synonymous_variant	151613	exon1			GGGGTCGGCCGCC	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.111G>T	3.37:g.180320160G>T			30	0	0		38	0.08	3	NM_001042601	11	0	0	G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	CCDS3237.1																																																																																					0.647	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349786.1		NM_133462		T	180320160	G	T	180320160	2	4	128	1	0	0	0	0	0	0	0	1	16705	1103	39	1		1	TTC14	3	180320160	Silent	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	29153242	180320160	17702270	13	9573											
PAPD4	167153	mdanderson.org	37	chr5	78919198	78919198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacgaagatactcaatGccaccattgtttcatacaca	14	10	7	10	1	2	2	2	1	0	1	2	3	2	2	2	1	4	1	2	1	5	4			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr5:78919198G>T	ENST00000296783.3	+	5	650	c.351G>T	c.(349-351)atG>atT	p.M117I	PAPD4_ENST00000428308.2_Missense_Mutation_p.M117I|PAPD4_ENST00000504233.1_Missense_Mutation_p.M117I|PAPD4_ENST00000423041.2_Missense_Mutation_p.M117I|PAPD4_ENST00000453514.1_Missense_Mutation_p.M117I			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	117					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GATACTCAATGCCACCATTGT	0.418																																					p.M117I													.	.			0			c.G351T												186	166	173					5																	78919198		2203	4300	6503	SO:0001583	missense	167153	exon5			CTCAATGCCACCA	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.351G>T	5.37:g.78919198G>T	ENSP00000296783:p.Met117Ile		83	0	0		47	0.06	3	NM_001114393	32	0	0	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332735	0.24167	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.92	4.98	0.66077	.	0.434204	0.26734	N	0.022779	T	0.26340	0.0643	N	0.08118	0	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.08472	-1.0720	10	0.22109	T	0.4	-3.669	11.8491	0.52401	0.0:0.167:0.6479:0.1851	.	117;117;117	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	I	117	ENSP00000397563:M117I;ENSP00000393412:M117I;ENSP00000396861:M117I;ENSP00000296783:M117I	ENSP00000296783:M117I	M	+	3	0	PAPD4	78954954	0.984000	0.35163	1.000000	0.80357	0.951000	0.60555	0.634000	0.24614	2.810000	0.96702	0.585000	0.79938	ATG			0.418	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226967.1		NM_173797		T	78919198	G	T	78919198	3	4	128	1	0	0	0	0	1	0	0	0	11441	1319	46	2	361	2	PAPD4	5	78919198	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		78919198	101996062	14	9574											
NR3C1	2908	bcgsc.ca	37	chr5	142779960	142779960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccttctctgtgggggcagCagacacagcagtggatgctg	7	9	14	11	0	1	1	0	0	1	1	3	2	2	2	1	3	3	4	1	3	0	1			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr5:142779960C>T	ENST00000343796.2	-	2	1438	c.445G>A	c.(445-447)Gct>Act	p.A149T	NR3C1_ENST00000415690.2_Missense_Mutation_p.A149T|NR3C1_ENST00000503201.1_Missense_Mutation_p.A149T|NR3C1_ENST00000504572.1_Missense_Mutation_p.A149T|NR3C1_ENST00000394466.2_Missense_Mutation_p.A149T|NR3C1_ENST00000231509.3_Missense_Mutation_p.A149T|NR3C1_ENST00000394464.2_Missense_Mutation_p.A149T|NR3C1_ENST00000424646.2_Missense_Mutation_p.A149T|NR3C1_ENST00000416954.2_Intron	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	149	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GTGGGGGCAGCAGACACAGCA	0.478																																					p.A149T													.	NR3C1	124		0			c.G445A												69	75	73					5																	142779960		2203	4300	6503	SO:0001583	missense	2908	exon2			GGGCAGCAGACAC	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.445G>A	5.37:g.142779960C>T	ENSP00000343205:p.Ala149Thr		130	0.0076923077	1		82	0.06	5	NM_001018077	1	0	0	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698492	0.48307	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;D;T;T;T;T	0.82433	-1.49;-1.49;-1.44;-1.61;-1.49;-1.49;-1.49;-1.49	5.32	5.32	0.75619	.	1.220170	0.05469	N	0.552640	T	0.79896	0.4525	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31459	0.324;0.324;0.324	B;B;B	0.33121	0.129;0.158;0.158	T	0.58769	-0.7578	10	0.15952	T	0.53	.	18.9962	0.92813	0.0:1.0:0.0:0.0	.	149;149;149	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	T	149	ENSP00000377977:A149T;ENSP00000343205:A149T;ENSP00000387672:A149T;ENSP00000405282:A149T;ENSP00000422518:A149T;ENSP00000377979:A149T;ENSP00000231509:A149T;ENSP00000427672:A149T	ENSP00000231509:A149T	A	-	1	0	NR3C1	142760153	0.012000	0.17670	0.988000	0.46212	0.582000	0.36321	1.855000	0.39378	2.493000	0.84123	0.655000	0.94253	GCT			0.478	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000370829.1				T	142779960	C	T	142779960	3	4	128	1	0	0	0	0	1	0	0	0	10647	710	25	2	1975	2	NR3C1	5	142779960	Missense_Mutation	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	63860762	142779960	38135300	15	9575											
ARHGEF37	389337	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr5	149008389	149008389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taggacatcgtgggtatgtgCcggctgggaaactacagctg	9	9	15	8	2	0	0	0	0	0	0	1	2	0	2	1	4	4	3	1	4	4	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr5:149008389C>T	ENST00000333677.6	+	12	1841	c.1678C>T	c.(1678-1680)Ccg>Tcg	p.P560S		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	560	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGGGTATGTGCCGGCTGGGAA	0.562																																					p.P560S													.	.			0			c.C1678T												32	36	35					5																	149008389		2014	4179	6193	SO:0001583	missense	389337	exon12			TATGTGCCGGCTG	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1678C>T	5.37:g.149008389C>T	ENSP00000328083:p.Pro560Ser		64	0	0		67	0.07	5	NM_001001669	2	0	0	Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	6.859	0.527733	0.13127	.	.	ENSG00000183111	ENST00000333677	D	0.91124	-2.79	5.47	4.6	0.57074	Src homology-3 domain (2);Variant SH3 (1);	0.109057	0.64402	N	0.000006	D	0.89976	0.6871	M	0.85373	2.75	0.51233	D	0.999915	P	0.41102	0.738	B	0.42138	0.377	D	0.86910	0.2060	10	0.08837	T	0.75	-8.0728	10.1375	0.42715	0.0:0.9078:0.0:0.0922	.	560	A1IGU5	ARH37_HUMAN	S	560	ENSP00000328083:P560S	ENSP00000328083:P560S	P	+	1	0	ARHGEF37	148988582	0.993000	0.37304	0.943000	0.38184	0.415000	0.31203	2.604000	0.46274	1.321000	0.45227	0.491000	0.48974	CCG			0.562	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373763.1		NM_001001669		T	149008389	C	T	149008389	3	4	128	1	0	0	0	0	1	0	0	0	906	739	26	2	1720	2	ARHGEF37	5	149008389	Missense_Mutation	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	6228429	149008389	31906871	16	9576											
SERPINB6	5269	bcgsc.ca;mdanderson.org	37	chr6	2955761	2955761	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaagtatgacttactgaGaggaaatcacaagacttttc	15	10	9	7	0	1	3	1	2	0	2	2	6	1	4	0	1	2	2	0	1	5	4			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr6:2955761G>T	ENST00000380520.1	-	2	2303	c.309C>A	c.(307-309)ctC>ctA	p.L103L	SERPINB6_ENST00000380546.3_Silent_p.L103L|SERPINB6_ENST00000380524.1_Silent_p.L103L|SERPINB6_ENST00000335686.5_Silent_p.L103L|SERPINB6_ENST00000380529.1_Silent_p.L103L|SERPINB6_ENST00000380539.1_Silent_p.L103L			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	103					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GACTTACTGAGAGGAAATCAC	0.493																																					p.L122L													.	SERPINB6	31		0			c.C366A												78	78	78					6																	2955761		2203	4300	6503	SO:0001819	synonymous_variant	5269	exon3			TACTGAGAGGAAA	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"Serine (or cysteine) peptidase inhibitors"	8950	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase"	173321	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6", "deafness, autosomal recessive 91"	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.309C>A	6.37:g.2955761G>T			67	0	0		78	0.06	5	NM_001271823	380	0	0	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Silent	SNP	ENST00000380520.1	37	CCDS4479.1																																																																																					0.493	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043422.1				T	2955761	G	T	2955761	2	4	128	1	0	0	0	0	0	0	0	1	14128	929	33	3		3	SERPINB6	6	2955761	Silent	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		2955761	168159306	17	9577											
TREML4	285852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	41196569	41196569	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgtcagcagacatctccaAgtcggtgtaccttacttgtc	8	12	10	11	1	2	1	1	0	1	1	5	1	2	1	2	2	3	2	2	2	3	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr6:41196569A>T	ENST00000341495.2	+	2	285	c.181A>T	c.(181-183)Agt>Tgt	p.S61C	TREML4_ENST00000448827.2_Missense_Mutation_p.S61C	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	61	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					GACATCTCCAAGTCGGTGTAC	0.522																																					p.S61C													.	.			0			c.A181T												89	84	86					6																	41196569		2203	4300	6503	SO:0001583	missense	285852	exon2			TCTCCAAGTCGGT	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"Immunoglobulin superfamily / V-set domain containing"	30807	protein-coding gene	gene with protein product	"TREM like transcript 4"	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.181A>T	6.37:g.41196569A>T	ENSP00000342570:p.Ser61Cys		66	0	0		68	0.34	23	NM_198153	0		0	B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	12.64	1.999587	0.35320	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.68479	-0.33;-0.33	4.35	-1.18	0.09617	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56202	0.1969	M	0.67397	2.05	0.09310	N	1	D	0.58970	0.984	P	0.59288	0.855	T	0.50775	-0.8788	9	0.38643	T	0.18	-0.542	5.2279	0.15406	0.5444:0.279:0.1765:0.0	.	61	Q6UXN2	TRML4_HUMAN	C	61	ENSP00000342570:S61C;ENSP00000418078:S61C	ENSP00000342570:S61C	S	+	1	0	TREML4	41304547	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.294000	0.02767	-0.758000	0.04690	-1.431000	0.01090	AGT			0.522	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043873.2				T	41196569	A	T	41196569	3	4	128	1	0	0	0	0	1	0	0	0	16498	72	3	5	187	5	TREML4	6	41196569	Missense_Mutation	SNP	A	TCGA-XY-A8S3-01B-11D-A435-10	38240808	41196569	129918498	18	9578											
ECT2L	345930	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	139175243	139175245	+	In_Frame_Del	DEL	GAA	GAA	-																															taggaagctatgtggccactGaagaagaagggggtcacgtg																										TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	GAA	GAA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr6:139175243_139175245delGAA	ENST00000423192.1	+	9	1311_1313	c.1150_1152delGAA	c.(1150-1152)gaadel	p.E386del	ECT2L_ENST00000367682.2_In_Frame_Del_p.E386del|ECT2L_ENST00000541398.1_In_Frame_Del_p.E317del|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	386							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E384D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGGCCACTGAAGAAGAAGGGG	0.443			"N, Splice, Mis"		ETP ALL																																p.383_384del				Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	ECT2L	75		1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	c.1149_1151del																																									SO:0001651	inframe_deletion	345930	exon9			GCCACTGAAGAAG		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1150_1152delGAA	6.37:g.139175249_139175251delGAA	ENSP00000387388:p.Glu386del		88	0	0		49	0.31	15	NM_001195037	0		0	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	In_Frame_Del	DEL	ENST00000423192.1	37	CCDS43508.1																																																																																					0.443	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042441.3		NM_001077706		-	139175245	GAA	-	139175243	7	5	128	1	0	1	0	1	0	0	0	0	4907	1291	45	0	1180	0	ECT2L	6	139175243	In_Frame_Del	DEL	GAA	TCGA-XY-A8S3-01B-11D-A435-10	97978674	139175243	31939824	19	9579											
SYTL3	94120	broad.mit.edu	37	chr6	159183173	159183173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagccaagaatttacctGtgcggccagatggcaccttg	10	9	12	10	1	0	2	0	0	0	2	0	3	0	3	4	3	3	1	4	3	4	4			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr6:159183173G>T	ENST00000297239.9	+	15	1674	c.1480G>T	c.(1480-1482)Gtg>Ttg	p.V494L	SYTL3_ENST00000367081.3_Missense_Mutation_p.V220L|MIR3918_ENST00000581555.1_RNA|SYTL3_ENST00000360448.3_Missense_Mutation_p.V426L			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	494	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)		GAATTTACCTGTGCGGCCAGA	0.433																																					p.V494L													.	SYTL3	49		0			c.G1480T												223	177	192					6																	159183173		2203	4300	6503	SO:0001583	missense	94120	exon17			TTACCTGTGCGGC	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.1480G>T	6.37:g.159183173G>T	ENSP00000297239:p.Val494Leu		92	0	0		91	0.04	4	NM_001242384	6	0	0	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389969	0.42410	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.06933	3.24;3.24;3.24	5.02	3.17	0.36434	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.234953	0.28166	N	0.016358	T	0.01800	0.0057	N	0.16307	0.4	0.25126	N	0.990607	B;P;B	0.36944	0.4;0.574;0.216	B;B;B	0.37650	0.075;0.255;0.122	T	0.40403	-0.9565	10	0.51188	T	0.08	.	5.7185	0.17974	0.1719:0.1844:0.6437:0.0	.	220;494;426	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	L	426;494;494;220	ENSP00000353631:V426L;ENSP00000297239:V494L;ENSP00000356048:V220L	ENSP00000297239:V494L	V	+	1	0	SYTL3	159103161	0.715000	0.27946	0.999000	0.59377	0.996000	0.88848	0.535000	0.23114	1.381000	0.46364	0.655000	0.94253	GTG			0.433	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042876.1				T	159183173	G	T	159183173	3	4	128	1	0	0	0	0	1	0	0	0	15507	1377	48	3	1318	3	SYTL3	6	159183173	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	20007930	159183173	11931894	20	9580											
SFRP1	6422	mdanderson.org	37	chr8	41166542	41166542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagaagcgcccgctctggTacgggccgatgtccgactgg	6	8	15	12	5	1	1	0	0	1	1	2	3	2	1	3	3	2	3	3	3	3	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr8:41166542T>C	ENST00000220772.3	-	1	474	c.137A>G	c.(136-138)tAc>tGc	p.Y46C	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	46					bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CCCGCTCTGGTACGGGCCGAT	0.682																																					p.Y46C													.	.			0			c.A137G												44	45	44					8																	41166542		2203	4300	6503	SO:0001583	missense	6422	exon1			CTCTGGTACGGGC	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"Secreted frizzled-related proteins"	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.137A>G	8.37:g.41166542T>C	ENSP00000220772:p.Tyr46Cys		18	0	0		38	0.08	3	NM_003012	6	0	0	O00546|O14779	Missense_Mutation	SNP	ENST00000220772.3	37	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948520	0.53186	.	.	ENSG00000104332	ENST00000220772;ENST00000535263	T	0.64438	-0.1	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000013	T	0.68677	0.3027	L	0.46157	1.445	0.50632	D	0.999884	D	0.76494	0.999	P	0.58820	0.846	T	0.71705	-0.4512	10	0.62326	D	0.03	.	13.0387	0.58887	0.0:0.0:0.0:1.0	.	46	Q8N474	SFRP1_HUMAN	C	46	ENSP00000220772:Y46C	ENSP00000220772:Y46C	Y	-	2	0	SFRP1	41285699	1.000000	0.71417	0.989000	0.46669	0.466000	0.32739	1.975000	0.40569	1.661000	0.50771	0.372000	0.22366	TAC			0.682	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377132.1		NM_003012		C	41166542	T	C	41166542	3	2	128	1	0	0	0	0	1	0	0	0	14184	1638	57	4	819	4	SFRP1	8	41166542	Missense_Mutation	SNP	T	TCGA-XY-A8S3-01B-11D-A435-10		41166542	105197480	21	9581											
TIGD5	84948	mdanderson.org	37	chr8	144681631	144681631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacccacctggcggctctgGcctacaagtgcctggctccg	5	8	11	17	2	2	0	1	0	1	0	3	0	3	0	5	4	2	2	5	4	2	1			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr8:144681631G>T	ENST00000504548.2	+	1	1558	c.1558G>T	c.(1558-1560)Gcc>Tcc	p.A520S	RP11-661A12.14_ENST00000606452.1_lincRNA|TIGD5_ENST00000321385.3_Missense_Mutation_p.A471S|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	520						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)			GGCGGCTCTGGCCTACAAGTG	0.731																																					p.A520S													.	.			0			c.G1558T												11	13	12					8																	144681631		2163	4275	6438	SO:0001583	missense	84948	exon1			GCTCTGGCCTACA	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1558G>T	8.37:g.144681631G>T	ENSP00000421489:p.Ala520Ser		33	0	0		50	0.06	3	NM_032862	43	0	0	E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853889	0.32791	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.32023	1.47;1.5	4.57	1.23	0.21249	.	0.151725	0.28766	U	0.014214	T	0.15696	0.0378	N	0.24115	0.695	0.22500	N	0.999045	B	0.34103	0.437	B	0.32090	0.14	T	0.26916	-1.0089	10	0.09084	T	0.74	.	10.1742	0.42929	0.2664:0.0:0.7336:0.0	.	471	Q53EQ6	TIGD5_HUMAN	S	520;471	ENSP00000421489:A520S;ENSP00000315906:A471S	ENSP00000315906:A471S	A	+	1	0	TIGD5	144752774	1.000000	0.71417	0.738000	0.30950	0.976000	0.68499	2.406000	0.44557	0.380000	0.24823	0.650000	0.86243	GCC			0.731	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368269.1		NM_032862		T	144681631	G	T	144681631	3	4	128	1	0	0	0	0	1	0	0	0	15922	1203	42	2	1560	2	TIGD5	8	144681631	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	103515089	144681631	1682391	22	9582											
BNC2	54796	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr9	16727865	16727865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaaccctggttcagccGtagtcgttctggttccgaac	7	11	10	13	3	2	1	1	1	1	0	4	2	3	1	4	2	3	4	4	2	3	4			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr9:16727865G>A	ENST00000380672.4	-	3	317	c.260C>T	c.(259-261)aCg>aTg	p.T87M	RP11-62F24.2_ENST00000450445.1_RNA|BNC2_ENST00000380666.2_Missense_Mutation_p.T87M|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron	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)		TGGTTCAGCCGTAGTCGTTCT	0.443																																					p.T87M													.	.			0			c.C260T												268	240	249					9																	16727865		2203	4300	6503	SO:0001583	missense	54796	exon3			TCAGCCGTAGTCG	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.260C>T	9.37:g.16727865G>A	ENSP00000370047:p.Thr87Met		128	0	0		145	0.07	10	NM_017637	21	0.24	5		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825001	0.50739	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380666;ENST00000540340	T;T;T	0.04015	3.73;3.73;3.73	6.17	6.17	0.99709	.	0.596298	0.17232	N	0.181903	T	0.07234	0.0183	N	0.08118	0	0.29500	N	0.855001	D;B;P;P	0.59357	0.985;0.423;0.606;0.606	P;B;B;B	0.51016	0.656;0.256;0.099;0.143	T	0.19192	-1.0313	10	0.66056	D	0.02	0.1909	20.8794	0.99867	0.0:0.0:1.0:0.0	.	87;87;45;87	Q06HC4;Q6ZN30-2;Q5H9S4;Q6ZN30	.;.;.;BNC2_HUMAN	M	87;44;87;87;87;87	ENSP00000370047:T87M;ENSP00000408370:T44M;ENSP00000370041:T87M	ENSP00000370041:T87M	T	-	2	0	BNC2	16717865	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	6.718000	0.74713	2.941000	0.99782	0.655000	0.94253	ACG			0.443	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000216901.5		NM_017637		A	16727865	G	A	16727865	3	1	128	1	0	0	0	0	1	0	0	0	1475	1145	40	1	3059	1	BNC2	9	16727865	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		16727865	124485566	23	9583											
LAMC3	10319	mdanderson.org	37	chr9	133936593	133936593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggtgtgtacccactGccccccgggccagagaggta	7	6	16	12	1	0	1	0	0	0	1	0	3	0	2	5	5	2	2	5	5	2	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr9:133936593G>A	ENST00000361069.4	+	13	2463	c.2330G>A	c.(2329-2331)tGc>tAc	p.C777Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	777	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)		TGTACCCACTGCCCCCCGGGC	0.697																																					p.C777Y													.	.			0			c.G2330A												28	27	28					9																	133936593		2203	4299	6502	SO:0001583	missense	10319	exon13			CCCACTGCCCCCC	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.2330G>A	9.37:g.133936593G>A	ENSP00000354360:p.Cys777Tyr		21	0	0		21	0.14	3	NM_006059	45	0	0	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198466	0.79015	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	D	0.95171	-3.63	4.79	4.79	0.61399	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	H	0.98525	4.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99833	1.1055	10	0.87932	D	0	.	16.4026	0.83647	0.0:0.0:1.0:0.0	.	777	Q9Y6N6	LAMC3_HUMAN	Y	777	ENSP00000354360:C777Y	ENSP00000347156:C777Y	C	+	2	0	LAMC3	132926414	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.381000	0.97205	2.216000	0.71823	0.557000	0.71058	TGC			0.697	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054717.3		NM_006059		A	133936593	G	A	133936593	3	1	128	1	0	0	0	0	1	0	0	0	8631	1319	46	2	2380	2	LAMC3	9	133936593	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	117208728	133936593	7276838	24	9584											
ZNF485	220992	mdanderson.org	37	chr10	44112810	44112810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagaaagagccatgaaatGtagttagtgtggcaaattgt	16	11	11	3	0	0	3	0	1	0	2	0	3	0	3	1	1	1	3	1	1	7	4			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr10:44112810G>T	ENST00000361807.3	+	5	1513	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F	ZNF485_ENST00000374435.3_Missense_Mutation_p.C440F|ZNF485_ENST00000374437.2_Missense_Mutation_p.C349F	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	440					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GCCATGAAATGTAGTTAGTGT	0.333																																					p.C440F													.	.			0			c.G1319T												42	47	45					10																	44112810		2187	4293	6480	SO:0001583	missense	220992	exon5			TGAAATGTAGTTA	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1319G>T	10.37:g.44112810G>T	ENSP00000354694:p.Cys440Phe		33	0	0		16	0.13	2	NM_145312	7	0	0	B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789147	0.16258	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.08720	3.38;3.06;3.38	2.3	2.3	0.28687	.	.	.	.	.	T	0.41073	0.1143	H	0.98068	4.14	0.41698	D	0.989387	D	0.89917	1.0	D	0.97110	1.0	T	0.59440	-0.7454	9	0.87932	D	0	.	10.6907	0.45869	0.0:0.0:1.0:0.0	.	440	Q8NCK3	ZN485_HUMAN	F	440;349;440	ENSP00000354694:C440F;ENSP00000363560:C349F;ENSP00000363558:C440F	ENSP00000354694:C440F	C	+	2	0	ZNF485	43432816	1.000000	0.71417	0.959000	0.39883	0.138000	0.21146	3.818000	0.55678	1.586000	0.49944	0.313000	0.20887	TGT			0.333	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047719.2		NM_145312		T	44112810	G	T	44112810	3	4	128	1	0	0	0	0	1	0	0	0	17961	1377	48	3	1333	3	ZNF485	10	44112810	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		44112810	91421937	25	9585											
ANK3	288	mdanderson.org	37	chr10	61815794	61815794	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatctctacactggtcaggGctgcaacagaaaatttgcaa	14	9	9	9	0	2	1	1	0	1	1	3	2	2	1	0	2	4	3	0	2	6	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr10:61815794G>T	ENST00000280772.2	-	42	12878	c.12687C>A	c.(12685-12687)agC>agA	p.S4229R	RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Splice_Site_p.S853R|ANK3_ENST00000373827.2_Splice_Site_p.S1713R|ANK3_ENST00000503366.1_Splice_Site_p.S1720R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4229					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						ACTGGTCAGGGCTGCAACAGA	0.388																																					p.S4229R													ANK3_ENST00000355288,NS,carcinoma,0,2	ANK3_ENST00000355288	0	2	0			c.C12687A												48	47	47					10																	61815794		2201	4300	6501	SO:0001630	splice_region_variant	288	exon42			GTCAGGGCTGCAA	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.12687-1C>A	10.37:g.61815794G>T			41	0	0		22	0.14	3	NM_020987	17	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513917	0.64522	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.74421	-0.58;-0.84;0.39;0.44;-0.03;-0.83	5.89	3.04	0.35103	.	0.000000	0.43747	U	0.000523	T	0.74869	0.3773	L	0.29908	0.895	0.80722	D	1	B;D;D;B;D;D;D	0.64830	0.0;0.99;0.99;0.289;0.994;0.99;0.987	B;D;D;B;D;D;P	0.71870	0.0;0.944;0.944;0.189;0.975;0.944;0.67	T	0.70706	-0.4798	10	0.32370	T	0.25	.	9.6883	0.40111	0.2774:0.0:0.7226:0.0	.	1720;853;1713;4229;954;853;252	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	R	4229;1713;311;1;853;1720;1699;954	ENSP00000280772:S4229R;ENSP00000362933:S1713R;ENSP00000362926:S311R;ENSP00000423057:S1R;ENSP00000347436:S853R;ENSP00000425236:S1720R	ENSP00000280772:S4229R	S	-	3	2	ANK3	61485800	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.393000	0.44442	0.841000	0.35020	0.561000	0.74099	AGC			0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048201.4		NM_020987	Missense_Mutation	T	61815794	G	T	61815794	5	4	128	1	0	0	0	0	0	0	1	0	622	1217	42	2	454	2	ANK3	10	61815794	Splice_Site	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	17702984	61815794	73718953	26	9586											
JAKMIP3	282973	mdanderson.org	37	chr10	133955460	133955460	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggagctgaggttccggCagctgaccatggagtaccag	10	6	15	10	2	0	3	0	2	0	1	1	5	1	5	3	4	3	5	3	4	1	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr10:133955460C>T	ENST00000298622.4	+	10	1648	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	504						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)		GAGGTTCCGGCAGCTGACCAT	0.607																																					p.Q504X													.	.			0			c.C1510T												99	65	77					10																	133955460		2199	4294	6493	SO:0001587	stop_gained	282973	exon10			TTCCGGCAGCTGA	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.1510C>T	10.37:g.133955460C>T	ENSP00000298622:p.Gln504*		44	0	0		34	0.09	3	NM_001105521	0		0	A6PW00|Q69YM6|Q6ZT29	Nonsense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	40	8.518117	0.98845	.	.	ENSG00000188385	ENST00000298622	.	.	.	3.87	3.87	0.44632	.	0.154517	0.43416	D	0.000567	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-31.323	16.3872	0.83514	0.0:1.0:0.0:0.0	.	.	.	.	X	504	.	ENSP00000298622:Q504X	Q	+	1	0	JAKMIP3	133805450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.225000	0.78051	2.182000	0.69389	0.561000	0.74099	CAG			0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051049.3		NM_194303		T	133955460	C	T	133955460	4	4	128	1	0	0	0	0	0	1	0	0	7957	711	25	2	1548	2	JAKMIP3	10	133955460	Nonsense_Mutation	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	72139666	133955460	1579287	27	9587											
ZNF511	118472	mdanderson.org	37	chr10	135123706	135123706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcacagagaagttcaaGaccagcagagaccggaagga	15	3	14	9	1	1	3	1	0	0	3	1	7	1	5	2	3	2	4	2	3	3	1			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr10:135123706G>T	ENST00000359035.3	+	4	471	c.468G>T	c.(466-468)aaG>aaT	p.K156N	ZNF511_ENST00000361518.5_Missense_Mutation_p.K156N|ZNF511_ENST00000368554.4_Missense_Mutation_p.K91N|TUBGCP2_ENST00000417178.2_5'Flank|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AGAAGTTCAAGACCAGCAGAG	0.582																																					p.K156N													.	.			0			c.G468T												109	111	110					10																	135123706		2203	4300	6503	SO:0001583	missense	118472	exon4			GTTCAAGACCAGC	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"Zinc fingers, C2H2-type"	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.468G>T	10.37:g.135123706G>T	ENSP00000351929:p.Lys156Asn		95	0	0		28	0.11	3	NM_145806	130	0	0	A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.937071	0.73557	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88741	-2.42;-2.42;-2.42	5.38	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.409630	0.29059	N	0.013267	D	0.91157	0.7215	L	0.57536	1.79	0.46356	D	0.999003	D;P;D	0.69078	0.997;0.859;0.969	P;P;P	0.62298	0.9;0.491;0.754	D	0.90325	0.4347	10	0.48119	T	0.1	-3.8727	9.7739	0.40607	0.1601:0.0:0.8399:0.0	.	156;91;156	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	N	156;156;91	ENSP00000355251:K156N;ENSP00000351929:K156N;ENSP00000357542:K91N	ENSP00000351929:K156N	K	+	3	2	ZNF511	134973696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.757000	0.38400	1.425000	0.47237	0.655000	0.94253	AAG			0.582	ZNF511-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000051143.1		NM_145806		T	135123706	G	T	135123706	3	4	128	1	0	0	0	0	1	0	0	0	17978	933	33	3	482	3	ZNF511	10	135123706	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	1168246	135123706	411041	28	9588											
CALY	50632	mdanderson.org	37	chr10	135141480	135141480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggaaattctgctggtctgGggaggacagctggtattctg	8	11	16	6	0	3	0	0	0	3	0	3	3	3	3	0	6	2	3	0	6	2	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr10:135141480G>T	ENST00000252939.4	-	3	268	c.175C>A	c.(175-177)Cca>Aca	p.P59T	CALY_ENST00000368555.3_Missense_Mutation_p.P59T|CALY_ENST00000467611.1_5'Flank|CALY_ENST00000368558.1_Missense_Mutation_p.P59T|ZNF511_ENST00000368554.4_Intron|CALY_ENST00000368556.2_Missense_Mutation_p.P59T	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein	59					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)|endocytosis (GO:0006897)|positive regulation of endocytosis (GO:0045807)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)	clathrin light chain binding (GO:0032051)			kidney(1)|lung(2)	3		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;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Trifluoperazine(DB00831)	TGCTGGTCTGGGGAGGACAGC	0.602																																					p.P59T													.	.			0			c.C175A												138	107	118					10																	135141480		2201	4300	6501	SO:0001583	missense	50632	exon3			GGTCTGGGGAGGA	AF225903	CCDS7678.1	10q26.3	2008-07-02	2008-01-16	2008-01-16	ENSG00000130643	ENSG00000130643			17938	protein-coding gene	gene with protein product		604647	"dopamine receptor D1 interacting protein"	DRD1IP		10698743, 17623072	Standard	NM_015722		Approved	CALCYON, NSG3	uc001lmo.2	Q9NYX4	OTTHUMG00000019310	ENST00000252939.4:c.175C>A	10.37:g.135141480G>T	ENSP00000252939:p.Pro59Thr		118	0	0		44	0.07	3	NM_015722	0		0	Q5VWX3|Q5VWY5|Q5VWY6	Missense_Mutation	SNP	ENST00000252939.4	37	CCDS7678.1	.	.	.	.	.	.	.	.	.	.	G	3.490	-0.104039	0.06967	.	.	ENSG00000130643	ENST00000252939;ENST00000368558;ENST00000368556;ENST00000368555	.	.	.	4.11	-3.15	0.05233	.	0.640711	0.14000	N	0.348180	T	0.24005	0.0581	L	0.36672	1.1	0.09310	N	1	B	0.18968	0.032	B	0.17098	0.017	T	0.13308	-1.0514	9	0.44086	T	0.13	-7.1606	1.6909	0.02852	0.2734:0.2681:0.3381:0.1204	.	59	Q9NYX4	CALY_HUMAN	T	59	.	ENSP00000252939:P59T	P	-	1	0	CALY	134991470	0.000000	0.05858	0.001000	0.08648	0.286000	0.27126	-0.676000	0.05221	-0.833000	0.04245	-1.369000	0.01192	CCA			0.602	CALY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051122.1		NM_015722		T	135141480	G	T	135141480	3	4	128	1	0	0	0	0	1	0	0	0	2597	1232	43	3	490	3	CALY	10	135141480	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	17774	135141480	393267	29	9589											
ARNTL	406	mdanderson.org	37	chr11	13407273	13407273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagacattccttccagtgGcctactatcaggccaggctc	8	10	8	15	0	1	1	1	0	0	1	5	1	4	1	5	3	1	1	5	3	2	4			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr11:13407273G>T	ENST00000403290.1	+	19	2010	c.1655G>T	c.(1654-1656)gGc>gTc	p.G552V	ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403482.3_Missense_Mutation_p.G550V|ARNTL_ENST00000389707.4_Missense_Mutation_p.G551V|ARNTL_ENST00000361003.4_Missense_Mutation_p.G434V|ARNTL_ENST00000401424.1_Missense_Mutation_p.G509V|ARNTL_ENST00000396441.3_Missense_Mutation_p.G551V|ARNTL_ENST00000403510.3_Missense_Mutation_p.G508V			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	552	Interaction with CIART. {ECO:0000250|UniProtKB:Q9WTL8}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CCTTCCAGTGGCCTACTATCA	0.408																																					p.G551V													.	.			0			c.G1652T												141	126	131					11																	13407273		2200	4294	6494	SO:0001583	missense	406	exon19			CCAGTGGCCTACT	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1655G>T	11.37:g.13407273G>T	ENSP00000384517:p.Gly552Val		47	0	0		43	0.07	3	NM_001178	30	0	0	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	G	15.10	2.734486	0.48939	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T	0.12569	3.07;3.07;3.1;3.07;2.67;3.1;3.07	5.22	5.22	0.72569	.	0.106561	0.64402	D	0.000004	T	0.16599	0.0399	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B	0.30021	0.016;0.001;0.137;0.215;0.265	B;B;B;B;B	0.37047	0.015;0.003;0.121;0.24;0.107	T	0.02244	-1.1189	10	0.49607	T	0.09	.	13.5203	0.61563	0.0:0.0:0.844:0.156	.	550;509;552;551;508	O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;BMAL1_HUMAN;.;.	V	551;551;509;552;434;508;508;550	ENSP00000379718:G551V;ENSP00000374357:G551V;ENSP00000385915:G509V;ENSP00000384517:G552V;ENSP00000354278:G434V;ENSP00000385581:G508V;ENSP00000385897:G550V	ENSP00000340289:G508V	G	+	2	0	ARNTL	13363849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.252000	0.78309	2.710000	0.92621	0.561000	0.74099	GGC			0.408	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000319173.1		NM_001178		T	13407273	G	T	13407273	3	4	128	1	0	0	0	0	1	0	0	0	967	1203	42	2	1725	2	ARNTL	11	13407273	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		13407273	121599243	30	9590											
NRXN2	9379	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	64375421	64375421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcggcgggcgggggcagCgtgtcttgggtggcgcccac	2	5	21	13	7	1	0	0	0	1	0	1	0	1	0	1	6	1	1	1	6	0	1			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr11:64375421C>T	ENST00000377551.1	-	22	4597	c.4386G>A	c.(4384-4386)acG>acA	p.T1462T	NRXN2_ENST00000265459.6_Silent_p.T1462T|NRXN2_ENST00000409571.1_Silent_p.T1455T|NRXN2_ENST00000301894.2_Silent_p.T416T|NRXN2_ENST00000377559.3_Silent_p.T1392T			Q9P2S2	NRX2A_HUMAN	neurexin 2	1462					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						gcgggggcAGCGTGTCTTGGG	0.751																																					p.T1462T													.	.			0			c.G4386A												2	3	2					11																	64375421		1314	2901	4215	SO:0001819	synonymous_variant	9379	exon23			GGGCAGCGTGTCT		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.4386G>A	11.37:g.64375421C>T			8	0	0		14	0.93	13	NM_015080	1	1	1	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																					0.751	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104967.3		NM_015080		T	64375421	C	T	64375421	2	4	128	1	0	0	0	0	0	0	0	1	10683	755	27	1		1	NRXN2	11	64375421	Silent	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	50968148	64375421	70631095	31	9591											
ATG2A	23130	mdanderson.org	37	chr11	64680578	64680578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtaccctgagcagctgcCgatctgcaaggggggctctg	7	8	14	12	1	2	1	0	1	2	0	2	2	2	1	2	3	5	5	2	3	2	1			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr11:64680578C>T	ENST00000377264.3	-	6	869	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	ATG2A_ENST00000421419.2_Missense_Mutation_p.G253S	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	253					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						GAGCAGCTGCCGATCTGCAAG	0.587																																					p.G253S													.	.			0			c.G757A												18	19	19					11																	64680578		2199	4295	6494	SO:0001583	missense	23130	exon6			AGCTGCCGATCTG		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.757G>A	11.37:g.64680578C>T	ENSP00000366475:p.Gly253Ser		59	0	0		41	0.07	3	NM_015104	14	0	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.202103|4.202103	0.79127|0.79127	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459|ENST00000418259	T;T|.	0.10573|.	2.86;2.86|.	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60025|0.60025	0.2237|0.2237	L|L	0.45581|0.45581	1.43|1.43	0.44579|0.44579	D|D	0.99754|0.99754	D|.	0.57899|.	0.981|.	B|.	0.38378|.	0.272|.	T|T	0.57447|0.57447	-0.7810|-0.7810	10|5	0.56958|.	D|.	0.05|.	.|.	13.1711|13.1711	0.59599|0.59599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|.	Q2TAZ0|.	ATG2A_HUMAN|.	S|Q	253|54	ENSP00000410522:G253S;ENSP00000366475:G253S|.	ENSP00000227459:G253S|.	G|R	-|-	1|2	0|0	ATG2A|ATG2A	64437154|64437154	0.997000|0.997000	0.39634|0.39634	0.996000|0.996000	0.52242|0.52242	0.978000|0.978000	0.69477|0.69477	3.782000|3.782000	0.55401|0.55401	2.255000|2.255000	0.74692|0.74692	0.555000|0.555000	0.69702|0.69702	GGC|CGG			0.587	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000143224.1		NM_015104		T	64680578	C	T	64680578	3	4	128	1	0	0	0	0	1	0	0	0	1093	652	23	1	5203	1	ATG2A	11	64680578	Missense_Mutation	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	305157	64680578	70325938	32	9592											
KLHL35	283212	mdanderson.org	37	chr11	75139524	75139524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggagagcacaggcggcGaattctgagcgagtgtagcc	9	7	16	9	4	1	2	0	1	1	1	1	5	1	2	1	3	4	2	1	3	2	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr11:75139524G>T	ENST00000539798.1	-	2	1028	c.1029C>A	c.(1027-1029)ttC>ttA	p.F343L	KLHL35_ENST00000376292.4_Missense_Mutation_p.F123L	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	343										lung(2)|stomach(1)	3						CACAGGCGGCGAATTCTGAGC	0.647																																					p.F343L	Colon(77;683 1691 18820 23811)												.	.			0			c.C1029A												40	49	46					11																	75139524		2002	4163	6165	SO:0001583	missense	283212	exon2			GGCGGCGAATTCT		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.1029C>A	11.37:g.75139524G>T	ENSP00000438526:p.Phe343Leu		21	0	0		16	0.19	3	NM_001039548	25	0	0	A2RU06|F5H412|Q86XM7|Q8NBB1	Missense_Mutation	SNP	ENST00000539798.1	37	CCDS44685.2	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045262	0.55110	.	.	ENSG00000149243	ENST00000376292;ENST00000539798	T;T	0.66995	-0.24;-0.24	5.11	-2.37	0.06643	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.62088	1.915	0.46167	D	0.998903	P	0.36465	0.554	B	0.38296	0.27	T	0.59526	-0.7438	10	0.66056	D	0.02	.	10.8785	0.46925	0.5553:0.0:0.4447:0.0	.	123	Q6PF15	KLH35_HUMAN	L	123;343	ENSP00000365469:F123L;ENSP00000438526:F343L	ENSP00000365469:F123L	F	-	3	2	KLHL35	74817172	0.933000	0.31639	0.938000	0.37757	0.559000	0.35586	0.151000	0.16283	-0.301000	0.08882	-1.036000	0.02392	TTC			0.647	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_173583		T	75139524	G	T	75139524	3	4	128	1	0	0	0	0	1	0	0	0	8403	1049	37	1	742	1	KLHL35	11	75139524	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	10458946	75139524	59866992	33	9593											
NAALAD2	10003	broad.mit.edu;mdanderson.org	37	chr11	89891357	89891357	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggagtgggaatccccCgaatacctgtacatcccatt	13	8	9	11	1	0	1	0	0	0	1	2	4	2	3	4	2	2	1	4	2	6	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr11:89891357C>T	ENST00000534061.1	+	7	1071	c.841C>T	c.(841-843)Cga>Tga	p.R281*	NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.R281*|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.R281*(2)|p.R281R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGAATCCCCCGAATACCTGT	0.313																																					p.R281X													NAALAD2,NS,carcinoma,0,2	NAALAD2	113	2	3	Substitution - Nonsense(2)|Substitution - coding silent(1)	lung(2)|prostate(1)	c.C841T												115	121	119					11																	89891357		2201	4299	6500	SO:0001587	stop_gained	10003	exon7			ATCCCCCGAATAC	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.841C>T	11.37:g.89891357C>T	ENSP00000432481:p.Arg281*		99	0	0		88	0.05	4	NM_005467	28	0	0	B3KQR4|Q4KKV4|Q4VAM9	Nonsense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250829	0.95305	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	.	.	.	5.13	-10.3	0.00346	.	0.797499	0.11731	N	0.534986	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2934	23.9434	0.99987	0.2095:0.7905:0.0:0.0	.	.	.	.	X	281	.	.	R	+	1	2	NAALAD2	89531005	0.248000	0.23930	0.084000	0.20598	0.982000	0.71751	0.998000	0.29744	-1.706000	0.01404	-0.358000	0.07595	CGA			0.313	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389424.2		NM_005467		T	89891357	C	T	89891357	4	4	128	1	0	0	0	0	0	1	0	0	10144	644	23	1	867	1	NAALAD2	11	89891357	Nonsense_Mutation	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	14751833	89891357	45115159	34	9594											
FAT3	120114	mdanderson.org	37	chr11	92616362	92616362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccagagtgactccaggaGcaacctggataagatcgtgg	11	8	12	10	1	0	3	0	1	0	2	3	5	2	5	3	3	2	1	3	3	2	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr11:92616362G>T	ENST00000298047.6	+	23	12757	c.12740G>T	c.(12739-12741)aGc>aTc	p.S4247I	FAT3_ENST00000409404.2_Missense_Mutation_p.S4247I|FAT3_ENST00000533797.1_Missense_Mutation_p.S582I|FAT3_ENST00000525166.1_Missense_Mutation_p.S4097I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4247					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)				GACTCCAGGAGCAACCTGGAT	0.677										TCGA Ovarian(4;0.039)																											p.S4247I													.	.			0			c.G12740T												73	88	83					11																	92616362		2093	4205	6298	SO:0001583	missense	120114	exon23			CCAGGAGCAACCT	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.12740G>T	11.37:g.92616362G>T	ENSP00000298047:p.Ser4247Ile		48	0	0		33	0.09	3	NM_001008781	0		0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	15.53	2.860348	0.51482	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86097	-0.86;-0.87;-0.87;-2.07	5.85	4.85	0.62838	.	.	.	.	.	T	0.75369	0.3840	N	0.22421	0.69	0.80722	D	1	B;B	0.32101	0.078;0.356	B;B	0.37780	0.054;0.258	T	0.74441	-0.3664	9	0.87932	D	0	.	3.8799	0.09074	0.3237:0.0:0.6763:0.0	.	4247;4247	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	I	4247;4247;4097;582	ENSP00000298047:S4247I;ENSP00000387040:S4247I;ENSP00000432586:S4097I;ENSP00000436399:S582I	ENSP00000298047:S4247I	S	+	2	0	FAT3	92256010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.424000	0.52764	2.770000	0.95276	0.655000	0.94253	AGC			0.677	FAT3-201	KNOWN	basic	protein_coding	protein_coding				NM_001008781		T	92616362	G	T	92616362	3	4	128	1	0	0	0	0	1	0	0	0	5704	971	34	2	12830	2	FAT3	11	92616362	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	2725005	92616362	42390154	35	9595											
MLL	4297	broad.mit.edu	37	chr11	118391583	118391583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaaagacttctaaggaGgcagttggtgtctacaggta	14	11	11	5	0	2	1	0	0	2	1	2	2	2	2	0	4	1	3	0	4	6	6			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr11:118391583G>T	ENST00000389506.5	+	34	11487	c.11487G>T	c.(11485-11487)gaG>gaT	p.E3829D	RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000534358.1_Missense_Mutation_p.E3832D|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.E3791D|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3829	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)										CTTCTAAGGAGGCAGTTGGTG	0.393																																					p.E3832D													.	MLL	548		0			c.G11496T												52	52	52					11																	118391583		2200	4295	6495	SO:0001583	missense	4297	exon34			TAAGGAGGCAGTT	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.11487G>T	11.37:g.118391583G>T	ENSP00000374157:p.Glu3829Asp		373	0	0		262	0.02	5	NM_001197104	13	0	0	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821825	0.32237	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.80214	-1.35;-1.35;-1.35	5.68	2.67	0.31697	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	N	0.05414	-0.055	0.43499	D	0.995749	B;B	0.20780	0.048;0.048	B;B	0.13407	0.009;0.009	T	0.52193	-0.8608	10	0.32370	T	0.25	.	10.5036	0.44821	0.2172:0.0:0.7828:0.0	.	3832;3829	E9PQG7;Q03164	.;MLL1_HUMAN	D	3832;3829;3791;2739	ENSP00000436786:E3832D;ENSP00000374157:E3829D;ENSP00000346516:E3791D	ENSP00000346516:E3791D	E	+	3	2	MLL	117896793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.108000	0.41854	0.690000	0.31570	0.561000	0.74099	GAG			0.393	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399085.2		NM_005933		T	118391583	G	T	118391583	3	4	128	1	0	0	0	0	1	0	0	0	9636	991	35	3	11621	3	MLL	11	118391583	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	25775221	118391583	16614933	36	9596											
CEP290	80184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	88524340	88524340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctttttctttagacgtttGttctacagaaaaggacagga	12	14	8	7	1	2	2	0	0	2	2	2	4	2	4	1	2	1	2	1	2	4	7			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr12:88524340G>C	ENST00000552810.1	-	8	841	c.498C>G	c.(496-498)aaC>aaG	p.N166K	CEP290_ENST00000309041.7_Missense_Mutation_p.N166K|CEP290_ENST00000397838.3_5'Flank	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	166					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						TTAGACGTTTGTTCTACAGAA	0.289																																					p.N166K													.	.			0			c.C498G												75	64	67					12																	88524340		1795	4064	5859	SO:0001583	missense	80184	exon8			ACGTTTGTTCTAC	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.498C>G	12.37:g.88524340G>C	ENSP00000448012:p.Asn166Lys		51	0	0		65	0.22	14	NM_025114	1	0	0	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698950	0.30142	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139;ENST00000550962	T;T;D	0.86627	-0.09;-0.09;-2.15	5.77	4.88	0.63580	.	0.123933	0.52532	D	0.000066	T	0.70859	0.3272	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.64533	-0.6385	10	0.21540	T	0.41	.	7.1789	0.25761	0.0827:0.0:0.627:0.2903	.	166	O15078	CE290_HUMAN	K	166;166;166;68;148	ENSP00000448012:N166K;ENSP00000308021:N166K;ENSP00000447623:N148K	ENSP00000308021:N166K	N	-	3	2	CEP290	87048471	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.893000	0.48633	2.728000	0.93425	0.650000	0.86243	AAC			0.289	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000406344.1		NM_025114		C	88524340	G	C	88524340	3	2	128	1	0	0	0	0	1	0	0	0	3255	1368	48	5	7129	5	CEP290	12	88524340	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		88524340	45327555	37	9597											
NDFIP2	54602	mdanderson.org	37	chr13	80055401	80055401	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgctcaatagcgcgcgCggcgccccggagcttctccg	6	6	13	16	7	2	0	1	0	1	0	3	1	2	1	3	2	4	3	3	2	2	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr13:80055401C>T	ENST00000218652.7	+	1	115	c.63C>T	c.(61-63)cgC>cgT	p.R21R	NDFIP2-AS1_ENST00000457171.1_RNA	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	21					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)		ATAGCGCGCGCGGCGCCCCGG	0.726																																					p.R21R													.	.			0			c.C63T												2	3	3					13																	80055401		1702	3429	5131	SO:0001819	synonymous_variant	54602	exon1			CGCGCGCGGCGCC	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.63C>T	13.37:g.80055401C>T			13	0	0		14	0.14	2	NM_019080	1	0	0	Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Silent	SNP	ENST00000218652.7	37	CCDS31998.1																																																																																					0.726	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045380.2				T	80055401	C	T	80055401	2	4	128	1	0	0	0	0	0	0	0	1	10263	755	27	1		1	NDFIP2	13	80055401	Silent	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10		80055401	35114477	38	9598											
CILP	8483	mdanderson.org	37	chr15	65496896	65496896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagtcagcattcacctggCccattgggcaggtcaggtca	9	8	11	13	0	4	0	4	0	0	0	4	0	4	0	2	4	1	2	2	4	0	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr15:65496896C>T	ENST00000261883.4	-	6	795	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	210					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATTCACCTGGCCCATTGGGCA	0.572																																					p.G210D													.	.			0			c.G629A												45	44	44					15																	65496896		2201	4299	6500	SO:0001583	missense	8483	exon6			ACCTGGCCCATTG	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.629G>A	15.37:g.65496896C>T	ENSP00000261883:p.Gly210Asp		59	0	0		37	0.08	3	NM_003613	0		0	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091445	0.94149	.	.	ENSG00000138615	ENST00000261883	T	0.54479	0.57	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75572	-0.3271	10	0.87932	D	0	-27.735	18.423	0.90598	0.0:1.0:0.0:0.0	.	210	O75339	CILP1_HUMAN	D	210	ENSP00000261883:G210D	ENSP00000261883:G210D	G	-	2	0	CILP	63283949	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.716000	0.84723	2.588000	0.87417	0.563000	0.77884	GGC			0.572	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256829.1		NM_003613		T	65496896	C	T	65496896	3	4	128	1	0	0	0	0	1	0	0	0	3431	739	26	2	2941	2	CILP	15	65496896	Missense_Mutation	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10		65496896	37034496	39	9599											
TCEB2	6923	ucsc.edu	37	chr16	2825543	2825543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgtcttgccatcatcCaagagttggtcatcctgagg	8	11	10	12	0	3	2	2	1	1	1	5	2	5	2	4	2	1	1	4	2	1	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr16:2825543C>T	ENST00000409906.4	-	3	210	c.153G>A	c.(151-153)ttG>ttA	p.L51L	TCEB2_ENST00000409477.1_Silent_p.L46L|TCEB2_ENST00000262306.7_Silent_p.L51L|TCEB2_ENST00000572954.1_Intron	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	51	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						TGCCATCATCCAAGAGTTGGT	0.592																																					p.L51L	GBM(141;5215 5962)												.	TCEB2	6		0			c.G153A												72	65	67					16																	2825543		2198	4300	6498	SO:0001819	synonymous_variant	6923	exon3			ATCATCCAAGAGT	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.153G>A	16.37:g.2825543C>T			21	0	0		35	0.11	4	NM_007108	3290	0	0	B7WPD3	Missense_Mutation	SNP	ENST00000409906.4	37	CCDS45387.1																																																																																					0.592	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333975.2		NM_007108		T	2825543	C	T	2825543	2	4	128	1	0	0	0	0	0	0	0	1	15703	593	21	3		3	TCEB2	16	2825543	Silent	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10		2825543	87529210	40	9600											
NUDT16L1	84309	mdanderson.org	37	chr16	4743826	4743826	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgccacgccatgctgtaCgccgccaaccctgggcagct	6	7	11	17	4	0	0	0	0	0	0	1	0	0	0	5	1	5	4	5	1	2	1			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr16:4743826C>T	ENST00000304301.6	+	1	132	c.99C>T	c.(97-99)taC>taT	p.Y33Y	NUDT16L1_ENST00000586252.1_Silent_p.Y33Y|NUDT16L1_ENST00000586536.1_Silent_p.Y33Y|NUDT16L1_ENST00000405142.1_Silent_p.Y33Y	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	33						cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						CCATGCTGTACGCCGCCAACC	0.731																																					p.Y33Y													.	.			0			c.C99T												18	17	17					16																	4743826		2173	4288	6461	SO:0001819	synonymous_variant	84309	exon1			GCTGTACGCCGCC	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"Nudix motif containing"	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.99C>T	16.37:g.4743826C>T			20	0	0		26	0.12	3	NM_001193452	80	0	0	Q8NAI2	Silent	SNP	ENST00000304301.6	37	CCDS10519.1																																																																																					0.731	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251634.1		NM_032349		T	4743826	C	T	4743826	2	4	128	1	0	0	0	0	0	0	0	1	10750	547	19	1		1	NUDT16L1	16	4743826	Silent	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	1918283	4743826	85610927	41	9601											
PHKG2	5261	mdanderson.org	37	chr16	30764793	30764793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgagatctgaagcccgaGaatattctcctagatgacaa	14	9	8	10	2	2	5	0	2	2	3	4	7	2	5	2	0	1	0	2	0	5	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr16:30764793G>T	ENST00000563588.1	+	6	710	c.471G>T	c.(469-471)gaG>gaT	p.E157D	RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000328273.7_Missense_Mutation_p.E157D|PHKG2_ENST00000424889.3_Missense_Mutation_p.E157D	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> K (in GSD9C). {ECO:0000269|PubMed:12930917}.		carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			TGAAGCCCGAGAATATTCTCC	0.532																																					p.E157D													PHKG2_ENST00000328273,colon,carcinoma,+2,1	PHKG2_ENST00000328273	2	1	0			c.G471T												73	73	73					16																	30764793		2197	4300	6497	SO:0001583	missense	5261	exon6			GCCCGAGAATATT	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.471G>T	16.37:g.30764793G>T	ENSP00000455607:p.Glu157Asp		72	0	0		74	0.05	4	NM_001172432	210	0	0	A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779500	0.90195	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.44482	0.92;0.92	5.52	5.52	0.82312	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	0.48286	D	0.000192	T	0.62913	0.2467	M	0.72118	2.19	0.80722	D	1	P;P	0.44241	0.774;0.829	P;P	0.58077	0.832;0.741	T	0.64761	-0.6331	10	0.87932	D	0	-18.2067	18.2169	0.89889	0.0:0.0:1.0:0.0	.	157;157	P15735;P15735-2	PHKG2_HUMAN;.	D	157	ENSP00000329968:E157D;ENSP00000388571:E157D	ENSP00000329968:E157D	E	+	3	2	PHKG2	30672294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.601000	0.61090	2.586000	0.87340	0.655000	0.94253	GAG			0.532	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255531.2		NM_000294		T	30764793	G	T	30764793	3	4	128	1	0	0	0	0	1	0	0	0	11864	933	33	3	489	3	PHKG2	16	30764793	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	26020967	30764793	59589960	42	9602											
ZNF646	9726	broad.mit.edu	37	chr16	31092943	31092943	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcacctgcccccattgTccccgccacttccgccgccg	3	9	6	23	4	1	0	1	0	0	0	3	0	3	0	10	0	1	0	10	0	0	3	rs200049061		TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr16:31092943T>C	ENST00000394979.2	+	1	5721	c.5298T>C	c.(5296-5298)tgT>tgC	p.C1766C	ZNF646_ENST00000300850.5_Silent_p.C1766C			O15015	ZN646_HUMAN	zinc finger protein 646	1766					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						GCCCCCATTGTCCCCGCCACT	0.697																																					p.C1766C													.	ZNF646	133		0			c.T5298C																																									SO:0001819	synonymous_variant	9726	exon2			CCATTGTCCCCGC	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.5298T>C	16.37:g.31092943T>C			50	0.44	22		55	0.58	32	NM_014699	62	0.15	9	Q8IVD8	Silent	SNP	ENST00000394979.2	37																																																																																						0.697	ZNF646-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000108510.2		NM_014699		C	31092943	T	C	31092943	2	2	128	1	0	0	0	0	0	0	0	1	18085	1673	58	4		4	ZNF646	16	31092943	Silent	SNP	T	TCGA-XY-A8S3-01B-11D-A435-10	328150	31092943	59261810	43	9603											
MYBBP1A	10514	mdanderson.org	37	chr17	4443182	4443182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtctctggcaagaatcccTttttcttccgcttcttactg	5	17	6	13	2	3	1	0	0	3	1	7	1	5	1	2	1	1	2	2	1	3	5			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr17:4443182T>C	ENST00000254718.4	-	26	3821	c.3515A>G	c.(3514-3516)aAg>aGg	p.K1172R	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.K1172R			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1172	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						CAAGAATCCCTTTTTCTTCCG	0.597																																					p.K1172R													.	.			0			c.A3515G												89	93	91					17																	4443182		2203	4300	6503	SO:0001583	missense	10514	exon26			AATCCCTTTTTCT	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.3515A>G	17.37:g.4443182T>C	ENSP00000254718:p.Lys1172Arg		25	0	0		23	0.09	2	NM_014520	451	0	0	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175056	0.78564	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.28454	1.61;1.62	4.72	3.64	0.41730	.	0.103525	0.64402	D	0.000004	T	0.40448	0.1117	L	0.36672	1.1	0.33051	D	0.53272	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.51957	-0.8639	10	0.62326	D	0.03	-38.232	7.0805	0.25229	0.0:0.1014:0.0:0.8986	.	1172;1172	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	R	1172	ENSP00000370968:K1172R;ENSP00000254718:K1172R	ENSP00000254718:K1172R	K	-	2	0	MYBBP1A	4389931	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.446000	0.44908	0.953000	0.37825	0.459000	0.35465	AAG			0.597	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000207488.2		NM_014520		C	4443182	T	C	4443182	3	2	128	1	0	0	0	0	1	0	0	0	10024	1609	56	4	515	4	MYBBP1A	17	4443182	Missense_Mutation	SNP	T	TCGA-XY-A8S3-01B-11D-A435-10		4443182	76752028	44	9604											
UBE2O	63893	mdanderson.org	37	chr17	74449144	74449144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacgggggctgcggctgggGccgggactgcctccggggct	2	5	22	12	4	0	0	0	0	0	0	1	2	1	2	3	9	2	3	3	9	0	0			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr17:74449144G>T	ENST00000319380.7	-	1	144	c.80C>A	c.(79-81)gCc>gAc	p.A27D	AANAT_ENST00000250615.3_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	27	Ala-rich.				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						tgcggctggggccgggactgc	0.791																																					p.A27D													.	.			0			c.C80A												1	1	1					17																	74449144		508	1076	1584	SO:0001583	missense	63893	exon1			GCTGGGGCCGGGA	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.80C>A	17.37:g.74449144G>T	ENSP00000323687:p.Ala27Asp		11	0	0		16	0.13	2	NM_022066	3	0	0	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792017	0.31685	.	.	ENSG00000175931	ENST00000319380	T	0.73897	-0.79	2.78	1.8	0.24995	.	0.499043	0.16392	U	0.216417	T	0.50514	0.1620	N	0.08118	0	0.28453	N	0.916242	B	0.13594	0.008	B	0.15870	0.014	T	0.36744	-0.9735	10	0.18276	T	0.48	-0.3321	10.0915	0.42449	0.1064:0.0:0.8936:0.0	.	27	Q9C0C9	UBE2O_HUMAN	D	27	ENSP00000323687:A27D	ENSP00000323687:A27D	A	-	2	0	UBE2O	71960739	0.000000	0.05858	0.089000	0.20774	0.338000	0.28826	0.072000	0.14617	0.717000	0.32145	0.557000	0.71058	GCC			0.791	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450123.1		NM_022066		T	74449144	G	T	74449144	3	4	128	1	0	0	0	0	1	0	0	0	16892	1203	42	2	3870	2	UBE2O	17	74449144	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	70005962	74449144	6746066	45	9605											
GALR1	2587	mdanderson.org	37	chr18	74962916	74962916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgctacgtggccatcGtgcactcgcggcgctcctcc	4	8	12	17	6	0	0	0	0	0	0	4	1	2	1	4	3	2	3	4	3	1	1	rs375468486		TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr18:74962916G>T	ENST00000299727.3	+	1	412	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	138					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGTGGCCATCGTGCACTCGCG	0.652																																					p.V138L													.	.			0			c.G412T												69	59	62					18																	74962916		2203	4300	6503	SO:0001583	missense	2587	exon1			GCCATCGTGCACT	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.412G>T	18.37:g.74962916G>T	ENSP00000299727:p.Val138Leu		29	0	0		12	0.17	2	NM_001480	0		0	Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218629	0.79464	.	.	ENSG00000166573	ENST00000299727	T	0.38722	1.12	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.79258	2.445	0.80722	D	1	P	0.50272	0.933	P	0.59703	0.862	T	0.62863	-0.6764	10	0.33141	T	0.24	.	16.7748	0.85548	0.0:0.0:1.0:0.0	.	138	P47211	GALR1_HUMAN	L	138	ENSP00000299727:V138L	ENSP00000299727:V138L	V	+	1	0	GALR1	73091904	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.379000	0.97198	2.044000	0.60594	0.591000	0.81541	GTG			0.652	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256362.1				T	74962916	G	T	74962916	3	4	128	1	0	0	0	0	1	0	0	0	6241	1145	40	1	414	1	GALR1	18	74962916	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		74962916	3114332	46	9606											
AKAP8L	26993	mdanderson.org	37	chr19	15510124	15510124	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttacctttccaccatGcggtctcgctgccgcttttt	3	15	9	14	3	1	0	0	0	1	0	3	0	2	0	4	2	3	4	4	2	1	4			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr19:15510124G>T	ENST00000397410.5	-	9	1276	c.1146C>A	c.(1144-1146)cgC>cgA	p.R382R	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Silent_p.R321R	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	382						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						TTTCCACCATGCGGTCTCGCT	0.627																																					p.R382R													.	.			0			c.C1146A												173	174	174					19																	15510124		2114	4222	6336	SO:0001819	synonymous_variant	26993	exon9			CACCATGCGGTCT	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.1146C>A	19.37:g.15510124G>T			55	0	0		77	0.05	4	NM_014371	301	0	0	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	37	CCDS46005.1																																																																																					0.627	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461301.2		NM_014371		T	15510124	G	T	15510124	2	4	128	1	0	0	0	0	0	0	0	1	458	1306	46	2		2	AKAP8L	19	15510124	Silent	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		15510124	43618859	47	9607											
CAPNS1	826	mdanderson.org	37	chr19	36632054	36632054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Silent_p.G47G|CAPNS1_ENST00000587718.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				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)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	.			0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	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.141C>T	19.37:g.36632054C>T			56	0.0357142857	2		32	0.13	4	NM_001749	1	0	0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																			0.006		0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2				T	36632054	C	T	36632054	2	4	128	1	0	0	0	0	0	0	0	1	2635	755	27	1		1	CAPNS1	19	36632054	Silent	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	21121930	36632054	22496929	48	9608											
PSMC4	5704	mdanderson.org	37	chr19	40485823	40485823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctggccaaggagaatgCacctgccatcatcttcatag	10	8	9	14	1	3	1	2	0	1	1	3	2	3	1	5	2	2	1	5	2	3	2			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr19:40485823C>T	ENST00000157812.2	+	7	971	c.773C>T	c.(772-774)gCa>gTa	p.A258V	PSMC4_ENST00000455878.2_Missense_Mutation_p.A227V	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	258					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A258V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGAGAATGCACCTGCCATC	0.567																																					p.A258V	Colon(105;1478 1543 4034 6132 38638)												PSMC4,NS,carcinoma,-1,2	PSMC4	-1	2	1	Substitution - Missense(1)	endometrium(1)	c.C773T												70	69	70					19																	40485823		2203	4300	6503	SO:0001583	missense	5704	exon7			AGAATGCACCTGC	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.773C>T	19.37:g.40485823C>T	ENSP00000157812:p.Ala258Val		106	0	0		65	0.06	4	NM_006503	1276	0	1	Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.193836	0.78902	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95103	-3.61;-3.61	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.101956	0.64402	D	0.000003	D	0.95962	0.8685	M	0.72624	2.21	0.80722	D	1	P;D	0.65815	0.857;0.995	P;P	0.53549	0.454;0.729	D	0.95965	0.8965	10	0.87932	D	0	-11.5399	18.1147	0.89549	0.0:1.0:0.0:0.0	.	227;258	P43686-2;P43686	.;PRS6B_HUMAN	V	258;227	ENSP00000157812:A258V;ENSP00000413869:A227V	ENSP00000157812:A258V	A	+	2	0	PSMC4	45177663	1.000000	0.71417	0.994000	0.49952	0.063000	0.16089	7.724000	0.84798	2.882000	0.98803	0.655000	0.94253	GCA			0.567	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462485.1		NM_006503		T	40485823	C	T	40485823	3	4	128	1	0	0	0	0	1	0	0	0	12709	710	25	2	799	2	PSMC4	19	40485823	Missense_Mutation	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10	3853769	40485823	18643160	49	9609											
FOXA3	3171	mdanderson.org	37	chr19	46375770	46375770	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccattcgccactcgctGtctttcaacgactgcttcgt	7	13	6	15	4	2	0	1	0	1	0	6	1	3	0	2	0	3	2	2	0	2	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr19:46375770G>T	ENST00000302177.2	+	2	704	c.507G>T	c.(505-507)ctG>ctT	p.L169L		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	169					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GCCACTCGCTGTCTTTCAACG	0.557																																					p.L169L													.	.			0			c.G507T												74	70	72					19																	46375770		2203	4300	6503	SO:0001819	synonymous_variant	3171	exon2			CTCGCTGTCTTTC	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.507G>T	19.37:g.46375770G>T			68	0	0		36	0.08	3	NM_004497	21	0	0	A9LYI5|Q53F16|Q9UMW9	Silent	SNP	ENST00000302177.2	37	CCDS12677.1																																																																																					0.557	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461682.1				T	46375770	G	T	46375770	2	4	128	1	0	0	0	0	0	0	0	1	6004	1364	48	3		3	FOXA3	19	46375770	Silent	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	5889947	46375770	12753213	50	9610											
SIGLEC1	6614	mdanderson.org	37	chr20	3677793	3677793	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagtcaggatgcggcaGgcgtaaagggcagcatcagt	10	6	15	10	2	3	0	3	0	0	0	3	1	3	1	1	4	2	4	1	4	2	1			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr20:3677793G>T	ENST00000344754.4	-	9	2318	c.2319C>A	c.(2317-2319)gcC>gcA	p.A773A	SIGLEC1_ENST00000202578.4_Silent_p.A773A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	773	Ig-like C2-type 7.				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						GGATGCGGCAGGCGTAAAGGG	0.632																																					p.A773A													SIGLEC1_ENST00000202578,NS,carcinoma,-2,2	SIGLEC1_ENST00000202578	-2	2	0			c.C2319A												65	64	65					20																	3677793		2203	4300	6503	SO:0001819	synonymous_variant	6614	exon9			GCGGCAGGCGTAA	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.2319C>A	20.37:g.3677793G>T			62	0	0		49	0.06	3	NM_023068	12	0	0	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1																																																																																					0.632	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077761.2		NM_023068		T	3677793	G	T	3677793	2	4	128	1	0	0	0	0	0	0	0	1	14328	987	35	3		3	SIGLEC1	20	3677793	Silent	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		3677793	59347727	51	9611											
TCEA2	6919	mdanderson.org	37	chr20	62701155	62701155	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggactgcgagcgcctGtcggctcagatcgaggaata	8	7	16	10	5	1	1	1	0	0	1	3	5	1	3	1	4	3	1	1	4	2	1			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr20:62701155G>T	ENST00000343484.5	+	6	667	c.498G>T	c.(496-498)ctG>ctT	p.L166L	TCEA2_ENST00000395053.3_Silent_p.L166L|TCEA2_ENST00000361317.2_Silent_p.L139L|TCEA2_ENST00000465111.1_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	166	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCGAGCGCCTGTCGGCTCAGA	0.632											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L166L													.	.			0			c.G498T												91	89	90					20																	62701155		2203	4300	6503	SO:0001819	synonymous_variant	6919	exon6			GCGCCTGTCGGCT	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.498G>T	20.37:g.62701155G>T			48	0	0	1063	44	0.07	3	NM_003195	114	0	0	B3KNM1|Q8TD37|Q8TD38	Silent	SNP	ENST00000343484.5	37	CCDS13553.1																																																																																					0.632	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080277.2		NM_198723		T	62701155	G	T	62701155	2	4	128	1	0	0	0	0	0	0	0	1	15691	1364	48	3		3	TCEA2	20	62701155	Silent	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	59023362	62701155	324365	52	9612											
COL6A1	1291	mdanderson.org	37	chr21	47421228	47421228	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcagagagcattggcctGcagaacttcgagattgccaa	12	8	11	10	1	1	3	1	0	0	3	2	5	1	3	2	1	5	3	2	1	2	3			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr21:47421228G>T	ENST00000361866.3	+	30	1998	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	628	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCATTGGCCTGCAGAACTTCG	0.647																																					p.L628L													COL6A1,colon,carcinoma,0,1	COL6A1	0	1	0			c.G1884T												127	125	126					21																	47421228		2203	4300	6503	SO:0001819	synonymous_variant	1291	exon30			TGGCCTGCAGAAC	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1884G>T	21.37:g.47421228G>T			25	0	0		42	0.07	3	NM_001848	406	0	0	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	CCDS13727.1																																																																																					0.647	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206877.1		NM_001848		T	47421228	G	T	47421228	2	4	128	1	0	0	0	0	0	0	0	1	3701	1306	46	2		2	COL6A1	21	47421228	Silent	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		47421228	708667	53	9613											
MN1	4330	mdanderson.org	37	chr22	28194894	28194894	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggcgctgctgctgctgCtgctgttgctgttgctgttg	0	18	14	9	1	0	0	0	0	0	0	0	0	0	0	0	1	7	11	0	1	0	5	rs202212250		TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr22:28194894C>T	ENST00000302326.4	-	1	2592	c.1638G>A	c.(1636-1638)caG>caA	p.Q546Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	546	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgctgttgct	0.642			T	ETV6	"AML, meningioma"																																p.Q546Q				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	.			0			c.G1638A												4	5	5					22																	28194894		1986	4018	6004	SO:0001819	synonymous_variant	4330	exon1			CTGCTGCTGCTGT	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.1638G>A	22.37:g.28194894C>T			30	0	0		19	0.16	3	NM_002430	5	0	0	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																					0.642	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320737.1		NM_002430		T	28194894	C	T	28194894	2	4	128	1	0	0	0	0	0	0	0	1	9689	796	28	2		2	MN1	22	28194894	Silent	SNP	C	TCGA-XY-A8S3-01B-11D-A435-10		28194894	23109672	54	9614			1	18		2	2	17	N	TGT_C	2.946003e-05
MN1	4330	broad.mit.edu	37	chr22	28194910	28194912	+	In_Frame_Del	DEL	TGT	TGT	-																															gctgctgctgttgctgttgcTgttgctgctgctgctgctgc																										TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr22:28194910_28194912delTGT	ENST00000302326.4	-	1	2574_2576	c.1620_1622delACA	c.(1618-1623)caacag>cag	p.540_541QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	540	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ttgctgttgctgttgctgctgct	0.655			T	ETV6	"AML, meningioma"																																p.540_541del				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	MN1	122		0			c.1620_1622del									259,3347		25,209,1569						1.4	1		dbSNP_130	5	283,7069		26,231,3419	no	coding	MN1	NM_002430.2		51,440,4988	A1A1,A1R,RR		3.8493,7.1825,4.9462				542,10416				SO:0001651	inframe_deletion	4330	exon1			TGTTGCTGTTGCT	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.1620_1622delACA	22.37:g.28194910_28194912delTGT	ENSP00000304956:p.Gln550del		31	0	0		26	0.27	7	NM_002430	10	0	0	A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	CCDS42998.1																																																																																					0.655	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320737.1		NM_002430		-	28194912	TGT	-	28194910	7	5	128	1	0	1	0	1	0	0	0	0	9689	1580	55	0	2348	0	MN1	22	28194910	In_Frame_Del	DEL	TGT	TCGA-XY-A8S3-01B-11D-A435-10	16	28194910	23109656	55	9615			1	18		2	2	17	N	TGT_C	2.946003e-05
PLXNB2	23654	bcgsc.ca	37	chr22	50722618	50722618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtagaggtgcaggggcaGcgtctcgttggcatcgtggg	6	8	19	8	4	1	1	0	0	1	1	3	2	1	1	0	5	2	5	0	5	1	2	rs372542578		TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chr22:50722618G>T	ENST00000449103.1	-	13	2346	c.2206C>A	c.(2206-2208)Ctg>Atg	p.L736M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L736M|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	736					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)		TGCAGGGGCAGCGTCTCGTTG	0.682																																					p.L736M													.	PLXNB2	172		0			c.C2206A								MET/LEU	0,4250		0,0,2125	53	59	57		2206	3.4	0.9	22		57	1,8477		0,1,4238	no	missense	PLXNB2	NM_012401.3	15	0,1,6363	TT,TG,GG		0.0118,0.0,0.0079	probably-damaging	736/1839	50722618	1,12727	2125	4239	6364	SO:0001583	missense	23654	exon13			GGGGCAGCGTCTC		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.2206C>A	22.37:g.50722618G>T	ENSP00000409171:p.Leu736Met		63	0	0		44	0.09	4	NM_012401	55	0	0	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.174314	0.38413	0.0	1.18E-4	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.04015	3.73;3.73	4.39	3.38	0.38709	.	0.000000	0.43919	D	0.000501	T	0.10078	0.0247	M	0.64170	1.965	0.33825	D	0.62954	D	0.54047	0.964	P	0.51777	0.679	T	0.14117	-1.0484	10	0.48119	T	0.1	.	8.0574	0.30612	0.1115:0.0:0.8885:0.0	.	736	O15031	PLXB2_HUMAN	M	736	ENSP00000409171:L736M;ENSP00000352288:L736M	ENSP00000352288:L736M	L	-	1	2	PLXNB2	49064745	0.436000	0.25586	0.936000	0.37596	0.014000	0.08584	0.299000	0.19138	1.075000	0.40932	-0.359000	0.07587	CTG			0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316874.3		NM_012401		T	50722618	G	T	50722618	3	4	128	1	0	0	0	0	1	0	0	0	12141	962	34	2	3410	2	PLXNB2	22	50722618	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10	22527708	50722618	581948	56	9616											
ZNF81	347344	mdanderson.org	37	chrX	47705716	47705716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaacatggcagtgcctGtgaggtgaggaggaggaaga	12	5	20	4	0	0	3	0	2	0	1	0	7	0	7	1	7	2	1	1	7	2	0			TCGA-XY-A8S3-01B-11D-A435-10	TCGA-XY-A8S3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d16a6b4-e512-4c73-b4e5-3790bab36b40	4b44ec78-47bf-4365-8e9f-9d227503f3d0	g.chrX:47705716G>T	ENST00000376954.1	+	3	418	c.50G>T	c.(49-51)tGt>tTt	p.C17F	ZNF81_ENST00000483520.1_3'UTR|ZNF81_ENST00000334937.4_Missense_Mutation_p.C17F|ZNF81_ENST00000338637.7_Missense_Mutation_p.C17F			P51508	ZNF81_HUMAN	zinc finger protein 81	17					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)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGCAGTGCCTGTGAGGTGAGG	0.512																																					p.C17F													.	.			0			c.G50T												29	31	31					X																	47705716		1997	4141	6138	SO:0001583	missense	347344	exon2			GTGCCTGTGAGGT	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.50G>T	X.37:g.47705716G>T	ENSP00000366153:p.Cys17Phe		27	0	0		39	0.08	3	NM_007137	15	0	0	Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	6.761	0.509315	0.12883	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000334937;ENST00000376950;ENST00000399918	T;T;T;T	0.00724	5.78;5.78;5.78;5.78	3.56	1.73	0.24493	Krueppel-associated box (1);	0.737124	0.11185	N	0.590571	T	0.00384	0.0012	N	0.04508	-0.205	0.26345	N	0.977308	P	0.43826	0.818	B	0.34536	0.185	T	0.30416	-0.9979	10	0.09590	T	0.72	.	4.1333	0.10159	0.1389:0.2384:0.6227:0.0	.	17	P51508	ZNF81_HUMAN	F	17	ENSP00000366153:C17F;ENSP00000341151:C17F;ENSP00000334641:C17F;ENSP00000366149:C17F	ENSP00000334641:C17F	C	+	2	0	ZNF81	47590660	0.971000	0.33674	0.981000	0.43875	0.890000	0.51754	0.947000	0.29082	0.333000	0.23563	-0.516000	0.04426	TGT			0.512	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056455.2		NM_007137		T	47705716	G	T	47705716	3	4	128	1	0	0	0	0	1	0	0	0	18197	1377	48	3	52	3	ZNF81	23	47705716	Missense_Mutation	SNP	G	TCGA-XY-A8S3-01B-11D-A435-10		47705716	107564844	57	9617											
FAM84A	151354	mdanderson.org	37	chr2	14774516	14774516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcccgcgccggagccgcCcgcgcccgccccgcactggg	3	1	15	22	8	0	0	0	0	0	0	0	1	0	1	7	2	2	2	7	2	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr2:14774516C>T	ENST00000295092.2	+	2	701	c.413C>T	c.(412-414)cCc>cTc	p.P138L	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.P138L	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	138										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)			ccggagccgcccgcgcccgcc	0.741																																					p.P138L													.	.			0			c.C413T												3	4	4					2																	14774516		1621	3394	5015	SO:0001583	missense	151354	exon2			AGCCGCCCGCGCC	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.413C>T	2.37:g.14774516C>T	ENSP00000295092:p.Pro138Leu		33	0	0		30	0.1	3	NM_145175	0		0	A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577008	0.45902	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.03920	3.76;3.76	4.96	4.96	0.65561	.	0.468956	0.23951	N	0.042954	T	0.05686	0.0149	L	0.49126	1.545	0.52501	D	0.999953	P	0.37636	0.603	B	0.23852	0.049	T	0.37314	-0.9711	10	0.45353	T	0.12	-20.5606	16.0579	0.80817	0.0:1.0:0.0:0.0	.	138	Q96KN4	FA84A_HUMAN	L	138	ENSP00000295092:P138L;ENSP00000330681:P138L	ENSP00000295092:P138L	P	+	2	0	FAM84A	14691967	0.445000	0.25657	1.000000	0.80357	0.990000	0.78478	1.486000	0.35530	2.426000	0.82243	0.655000	0.94253	CCC			0.741	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239308.2		NM_145175		T	14774516	C	T	14774516	3	4	129	1	0	0	0	0	1	0	0	0	5654	623	22	3	415	3	FAM84A	2	14774516	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10		14774516	228424857	1	9618											
SDC1	6382	mdanderson.org	37	chr2	20403974	20403974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggtgggttctggagacGtgggaatagccgtcaggagc	7	7	19	8	3	2	1	1	0	1	1	2	4	2	3	2	6	2	1	2	6	2	2	rs2230922	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr2:20403974G>T	ENST00000254351.4	-	3	471	c.227C>A	c.(226-228)aCg>aAg	p.T76K	SDC1_ENST00000403076.1_Missense_Mutation_p.T76K|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000381150.1_Missense_Mutation_p.T76K	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	76			T -> M (in dbSNP:rs2230922).		canonical Wnt signaling pathway (GO:0060070)|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)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTCTGGAGACGTGGGAATAGC	0.617																																					p.T76K													.	.			0			c.C227A												77	84	82					2																	20403974		2203	4299	6502	SO:0001583	missense	6382	exon3			GGAGACGTGGGAA	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.227C>A	2.37:g.20403974G>T	ENSP00000254351:p.Thr76Lys		15	0	0		12	0.17	2	NM_002997	95	0	0	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.510756	0.27036	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.35605	2.15;2.15;1.35;1.3	4.52	-0.461	0.12172	.	0.750404	0.11981	N	0.510780	T	0.42675	0.1213	M	0.70595	2.14	0.09310	N	1	P;B	0.38250	0.624;0.314	P;B	0.45474	0.482;0.357	T	0.42481	-0.9449	10	0.87932	D	0	-0.3989	8.2353	0.31622	0.4267:0.0:0.5733:0.0	.	76;76	E9PHH3;P18827	.;SDC1_HUMAN	K	76;76;76;84	ENSP00000254351:T76K;ENSP00000370542:T76K;ENSP00000384613:T76K;ENSP00000400773:T84K	ENSP00000254351:T76K	T	-	2	0	SDC1	20267455	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.222000	0.17699	-0.220000	0.09988	-2.104000	0.00359	ACG			0.617	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207495.1		NM_001006946		T	20403974	G	T	20403974	3	4	129	1	0	0	0	0	1	0	0	0	13974	1145	40	1	717	1	SDC1	2	20403974	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	5629458	20403974	222795399	2	9619											
CHST10	9486	mdanderson.org	37	chr2	101014548	101014548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgatgagttccaggcgCtccatgtagaccaggggctg	7	11	13	10	1	1	3	0	2	1	1	3	3	3	3	3	3	0	4	3	3	1	3			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr2:101014548C>A	ENST00000264249.3	-	5	634	c.249G>T	c.(247-249)gaG>gaT	p.E83D	CHST10_ENST00000542617.1_Missense_Mutation_p.E131D|CHST10_ENST00000409701.1_Missense_Mutation_p.E83D	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	83					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						GTTCCAGGCGCTCCATGTAGA	0.547																																					p.E83D													.	.			0			c.G249T												125	127	126					2																	101014548		2203	4300	6503	SO:0001583	missense	9486	exon5			CAGGCGCTCCATG	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.249G>T	2.37:g.101014548C>A	ENSP00000264249:p.Glu83Asp		59	0	0		46	0.07	3	NM_004854	38	0	0	Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.874091	0.51695	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989;ENST00000421474	T;T;T;T;T;T;T	0.72167	-0.59;-0.63;-0.59;0.77;0.75;0.56;0.67	5.59	1.85	0.25348	.	0.458224	0.24490	N	0.038064	T	0.59878	0.2226	L	0.50333	1.59	0.44579	D	0.997545	B	0.11235	0.004	B	0.06405	0.002	T	0.50955	-0.8766	10	0.32370	T	0.25	-24.0115	8.4865	0.33074	0.0:0.5774:0.0:0.4226	.	83	O43529	CHSTA_HUMAN	D	83;131;83;83;83;131;83	ENSP00000264249:E83D;ENSP00000438869:E131D;ENSP00000387309:E83D;ENSP00000387121:E83D;ENSP00000405922:E83D;ENSP00000387977:E131D;ENSP00000407525:E83D	ENSP00000264249:E83D	E	-	3	2	CHST10	100380980	1.000000	0.71417	0.976000	0.42696	0.962000	0.63368	0.924000	0.28777	0.328000	0.23435	-0.137000	0.14449	GAG			0.547	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253162.1		NM_004854		A	101014548	C	A	101014548	3	1	129	1	0	0	0	0	1	0	0	0	3400	796	28	2	833	2	CHST10	2	101014548	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	80610574	101014548	142184825	3	9620											
SLC11A1	6556	mdanderson.org	37	chr2	219257813	219257813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggacctgagggacttgtCgggcctcaatgatctgctca	7	9	13	12	2	3	2	2	2	1	0	4	4	3	4	3	3	1	1	3	3	1	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr2:219257813C>T	ENST00000233202.6	+	12	1614	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	SLC11A1_ENST00000539932.1_Missense_Mutation_p.S307L	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	425					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGACTTGTCGGGCCTCAAT	0.652																																					p.S425L													.	.			0			c.C1274T												86	65	72					2																	219257813		2203	4300	6503	SO:0001583	missense	6556	exon12			ACTTGTCGGGCCT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1274C>T	2.37:g.219257813C>T	ENSP00000233202:p.Ser425Leu		51	0.0196078431	1		45	0.07	3	NM_000578	0		0	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459551	0.63401	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.68181	-0.31;-0.31	4.6	4.6	0.57074	.	0.108661	0.38217	N	0.001774	T	0.66877	0.2834	L	0.45698	1.435	0.54753	D	0.999986	P;P	0.51537	0.946;0.885	P;P	0.46659	0.523;0.523	T	0.72928	-0.4143	10	0.72032	D	0.01	-10.8092	17.6413	0.88137	0.0:1.0:0.0:0.0	.	307;425	C0H5Y3;P49279	.;NRAM1_HUMAN	L	425;307	ENSP00000233202:S425L;ENSP00000443435:S307L	ENSP00000233202:S425L	S	+	2	0	SLC11A1	218966057	1.000000	0.71417	0.303000	0.25071	0.001000	0.01503	7.266000	0.78452	2.396000	0.81511	0.563000	0.77884	TCG			0.652	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195076.2		NM_000578		T	219257813	C	T	219257813	3	4	129	1	0	0	0	0	1	0	0	0	14403	893	31	1	1320	1	SLC11A1	2	219257813	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	118243265	219257813	23941560	4	9621											
ATRIP	84126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	48488478	48488478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagccaatgtccggccGcggctcgggacgtgtccagt	5	7	14	15	5	0	1	0	1	0	0	3	2	2	2	5	3	1	1	5	3	1	0	rs372906254		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr3:48488478G>T	ENST00000320211.3	+	1	342	c.229G>T	c.(229-231)Gcg>Tcg	p.A77S	RP11-24C3.2_ENST00000435578.1_RNA|ATRIP_ENST00000412052.1_5'Flank|RP11-24C3.2_ENST00000438872.1_RNA|ATRIP_ENST00000357105.6_Intron|ATRIP_ENST00000346691.4_Missense_Mutation_p.A77S	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	77					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGTCCGGCCGCGGCTCGGGA	0.662								Other conserved DNA damage response genes																													p.A77S													.	.			0			c.G229T												17	19	18					3																	48488478		2162	4229	6391	SO:0001583	missense	84126	exon1			CCGGCCGCGGCTC	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.229G>T	3.37:g.48488478G>T	ENSP00000323099:p.Ala77Ser		35	0	0		38	0.13	5	NM_130384	25	0.52	13	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058548	0.01950	.	.	ENSG00000164053	ENST00000320211;ENST00000346691	T;T	0.30981	1.51;1.51	4.85	1.88	0.25563	.	0.573563	0.18644	N	0.135202	T	0.15262	0.0368	N	0.25647	0.755	0.19775	N	0.999954	B;B	0.23249	0.034;0.082	B;B	0.22601	0.027;0.04	T	0.31392	-0.9945	10	0.07325	T	0.83	-0.3385	4.9388	0.13954	0.2088:0.1732:0.6181:0.0	.	77;77	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	S	77	ENSP00000323099:A77S;ENSP00000302338:A77S	ENSP00000323099:A77S	A	+	1	0	ATRIP	48463482	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.040000	0.12104	0.254000	0.21573	0.609000	0.83330	GCG			0.662	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257507.2		NM_130384		T	48488478	G	T	48488478	3	4	129	1	0	0	0	0	1	0	0	0	1205	1087	38	1	231	1	ATRIP	3	48488478	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		48488478	149533952	5	9622											
KIAA2018	205717	ucsc.edu	37	chr3	113376116	113376116	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttgttgctgttgctgCtgctgctgctgctgctgctg	0	18	14	9	0	0	0	0	0	0	0	0	0	0	0	0	0	9	13	0	0	0	4	rs112313093|rs59601191		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr3:113376116C>T	ENST00000478658.1	-	5	4430	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1471Q			Q68DE3	K2018_HUMAN	KIAA2018	1471	Gln-rich.					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						gctgttgctgctgctgctgct	0.498																																					p.Q1471Q													.	KIAA2018	180		0			c.G4413A												63	72	69					3																	113376116		2187	4278	6465	SO:0001819	synonymous_variant	205717	exon7			TTGCTGCTGCTGC	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.4413G>A	3.37:g.113376116C>T			60	0.0166666667	1		50	0.16	8	NM_001009899	3	0	0	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																					0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000354591.1		NM_001009899		T	113376116	C	T	113376116	2	4	129	1	0	0	0	0	0	0	0	1	8283	796	28	2		2	KIAA2018	3	113376116	Silent	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	64887638	113376116	84646314	6	9623											
DNAJC13	23317	broad.mit.edu	37	chr3	132172516	132172516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggcaacctataatattgCaacattgaagcctttaggag	13	11	8	9	1	0	1	0	1	0	0	1	2	1	2	3	2	4	2	3	2	7	7			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr3:132172516C>T	ENST00000260818.6	+	8	1066	c.818C>T	c.(817-819)gCa>gTa	p.A273V	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	273					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						TATAATATTGCAACATTGAAG	0.299																																					p.A273V													.	DNAJC13	253		0			c.C818T												100	112	108					3																	132172516		2203	4299	6502	SO:0001583	missense	23317	exon8			ATATTGCAACATT	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.818C>T	3.37:g.132172516C>T	ENSP00000260818:p.Ala273Val		41	0	0		37	0.08	3	NM_015268	49	0	0	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	4.685	0.127305	0.08981	.	.	ENSG00000138246	ENST00000260818	T	0.42513	0.97	5.64	5.64	0.86602	.	0.070747	0.64402	D	0.000013	T	0.09992	0.0245	N	0.00214	-1.84	0.38122	D	0.937882	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37776	-0.9691	10	0.02654	T	1	.	11.165	0.48537	0.0:0.8575:0.0:0.1425	.	273;273	A7E2Y5;O75165	.;DJC13_HUMAN	V	273	ENSP00000260818:A273V	ENSP00000260818:A273V	A	+	2	0	DNAJC13	133655206	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.921000	0.40035	2.645000	0.89757	0.650000	0.86243	GCA			0.299	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356807.2		NM_015268		T	132172516	C	T	132172516	3	4	129	1	0	0	0	0	1	0	0	0	4637	710	25	2	844	2	DNAJC13	3	132172516	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	18796400	132172516	65849914	7	9624											
MCF2L2	23101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	183013184	183013184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggacgagtctgtttggctgCcagtttcatcagactcactt	7	14	10	10	1	4	1	3	0	1	1	4	3	4	2	1	2	1	3	1	2	0	3			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr3:183013184C>T	ENST00000328913.3	-	13	1876	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	MCF2L2_ENST00000447025.2_Missense_Mutation_p.A527T|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A527T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A527T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	527							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)			TGTTTGGCTGCCAGTTTCATC	0.498																																					p.A527T													.	.			0			c.G1579A												175	149	158					3																	183013184		2203	4300	6503	SO:0001583	missense	23101	exon13			TGGCTGCCAGTTT	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.1579G>A	3.37:g.183013184C>T	ENSP00000328118:p.Ala527Thr		181	0	0		190	0.33	63	NM_015078	12	0.58	7	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201863	0.79127	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.06218	4.47;4.49;3.6;3.33	4.82	4.82	0.62117	.	0.069898	0.64402	D	0.000013	T	0.23094	0.0558	M	0.72118	2.19	0.80722	D	1	D;D	0.62365	0.984;0.991	P;D	0.63283	0.828;0.913	T	0.00388	-1.1771	10	0.51188	T	0.08	.	18.1577	0.89699	0.0:1.0:0.0:0.0	.	527;527	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	T	527;527;527;63;527	ENSP00000328118:A527T;ENSP00000420070:A527T;ENSP00000388190:A527T;ENSP00000414131:A527T	ENSP00000328118:A527T	A	-	1	0	MCF2L2	184495878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.446000	0.66600	2.535000	0.85469	0.650000	0.86243	GCA			0.498	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350868.1		NM_015078		T	183013184	C	T	183013184	3	4	129	1	0	0	0	0	1	0	0	0	9396	739	26	2	1837	2	MCF2L2	3	183013184	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	50840668	183013184	15009246	8	9625											
FGFRL1	53834	mdanderson.org	37	chr4	1018719	1018719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccgccagggccacctgtgGcctcctcgtcctcggccact	5	7	10	19	3	0	0	0	0	0	0	4	0	2	0	8	3	1	0	8	3	1	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr4:1018719G>T	ENST00000398484.2	+	8	1679	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.A367S|FGFRL1_ENST00000264748.6_Missense_Mutation_p.A367S|FGFRL1_ENST00000504138.1_Missense_Mutation_p.A367S			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	367					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCACCTGTGGCCTCCTCGTC	0.652																																					p.A367S													.	.			0			c.G1099T												25	30	28					4																	1018719		2198	4292	6490	SO:0001583	missense	53834	exon7			CCTGTGGCCTCCT		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1099G>T	4.37:g.1018719G>T	ENSP00000381498:p.Ala367Ser		25	0	0		33	0.09	3	NM_001004356	104	0	0	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	g	14.77	2.633325	0.47049	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.81	4.81	0.61882	.	0.426017	0.21170	N	0.078985	T	0.58637	0.2136	L	0.36672	1.1	0.31483	N	0.666958	B	0.17268	0.021	B	0.17433	0.018	T	0.55431	-0.8142	10	0.11794	T	0.64	-23.2732	13.4444	0.61131	0.0:0.1706:0.8294:0.0	.	367	Q8N441	FGRL1_HUMAN	S	367;337;367;367;367	ENSP00000381498:A367S;ENSP00000425025:A367S;ENSP00000423091:A367S;ENSP00000264748:A367S	ENSP00000264748:A367S	A	+	1	0	FGFRL1	1008719	1.000000	0.71417	0.957000	0.39632	0.785000	0.44390	1.948000	0.40303	2.243000	0.73865	0.651000	0.88453	GCC			0.652	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239195.2		NM_021923		T	1018719	G	T	1018719	3	4	129	1	0	0	0	0	1	0	0	0	5882	1203	42	2	1121	2	FGFRL1	4	1018719	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		1018719	190135557	9	9626											
GABRG1	2565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	46053563	46053563	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatgaaacaaacagaaaCaaagagatccatcgcagtca	23	4	6	8	1	1	3	1	1	0	2	3	4	2	3	1	0	3	1	1	0	6	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr4:46053563C>G	ENST00000295452.4	-	8	1176	c.1009G>C	c.(1009-1011)Gtt>Ctt	p.V337L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	337					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAAACAGAAACAAAGAGATCC	0.383																																					p.V337L													.	.			0			c.G1009C												109	98	102					4																	46053563		2203	4300	6503	SO:0001583	missense	2565	exon8			CAGAAACAAAGAG	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1009G>C	4.37:g.46053563C>G	ENSP00000295452:p.Val337Leu		66	0	0		56	0.11	6	NM_173536	0		0	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122199	0.94429	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83335	-1.71	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84469	0.5479	N	0.17564	0.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82466	-0.0443	10	0.24483	T	0.36	.	18.7036	0.91630	0.0:1.0:0.0:0.0	.	337	Q8N1C3	GBRG1_HUMAN	L	337	ENSP00000295452:V337L	ENSP00000295452:V337L	V	-	1	0	GABRG1	45748320	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GTT			0.383	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250470.1		NM_173536		G	46053563	C	G	46053563	3	3	129	1	0	0	0	0	1	0	0	0	6184	478	17	5	396	5	GABRG1	4	46053563	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	45034844	46053563	145100713	10	9627											
MDN1	23195	mdanderson.org	37	chr6	90384205	90384205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggccaggtgctgcaggcGctctgtccactgctgcacgc	5	8	13	15	2	1	0	0	0	1	0	2	0	2	0	2	3	4	5	2	3	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr6:90384205G>T	ENST00000369393.3	-	79	12980	c.12865C>A	c.(12865-12867)Cgc>Agc	p.R4289S	MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.R4289S|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4289					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)		TGCTGCAGGCGCTCTGTCCAC	0.652																																					p.R4289S													MDN1,NS,carcinoma,+1,1	MDN1	1	1	0			c.C12865A												22	23	23					6																	90384205		2203	4298	6501	SO:0001583	missense	23195	exon79			GCAGGCGCTCTGT	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.12865C>A	6.37:g.90384205G>T	ENSP00000358400:p.Arg4289Ser		34	0	0		29	0.1	3	NM_014611	104	0	0	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078659	0.36662	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03065	4.06;4.06	5.87	4.83	0.62350	.	0.173828	0.49305	D	0.000148	T	0.01454	0.0047	L	0.54323	1.7	0.34567	D	0.713035	P	0.44090	0.826	B	0.38056	0.264	T	0.30563	-0.9974	10	0.06757	T	0.87	.	13.4375	0.61092	0.0:0.0:0.6097:0.3903	.	4289	Q9NU22	MDN1_HUMAN	S	4289	ENSP00000358400:R4289S;ENSP00000413970:R4289S	ENSP00000358400:R4289S	R	-	1	0	MDN1	90440926	0.413000	0.25400	1.000000	0.80357	0.979000	0.70002	1.775000	0.38584	1.262000	0.44165	0.655000	0.94253	CGC			0.652	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041514.2				T	90384205	G	T	90384205	3	4	129	1	0	0	0	0	1	0	0	0	9431	1087	38	1	4021	1	MDN1	6	90384205	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		90384205	80730862	11	9628											
SNX13	23161	broad.mit.edu;mdanderson.org	37	chr7	17836517	17836517	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcgaatacttttatctctGcatggaacagcctctgctaa	11	14	6	10	1	2	0	0	0	2	0	4	2	2	1	1	1	5	2	1	1	5	5			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr7:17836517G>T	ENST00000409389.1	-	25	2764	c.2592C>A	c.(2590-2592)tgC>tgA	p.C864*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.C853*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	864					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)					TTTTATCTCTGCATGGAACAG	0.318																																					p.C853X													.	SNX13	113		0			c.C2559A												181	166	171					7																	17836517		1827	4090	5917	SO:0001587	stop_gained	23161	exon25			ATCTCTGCATGGA	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.2592C>A	7.37:g.17836517G>T	ENSP00000386705:p.Cys864*		48	0	0		82	0.05	4	NM_015132	45	0	0	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Nonsense_Mutation	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	G	40	8.419835	0.98803	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	5.41	4.52	0.55395	.	0.091100	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-5.5247	11.194	0.48703	0.0734:0.1351:0.7914:0.0	.	.	.	.	X	864;853;901	.	ENSP00000242044:C901X	C	-	3	2	SNX13	17803042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.573000	0.46007	2.529000	0.85273	0.557000	0.71058	TGC			0.318	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000327608.1		NM_015132		T	17836517	G	T	17836517	4	4	129	1	0	0	0	0	0	1	0	0	14907	1311	46	2	322	2	SNX13	7	17836517	Nonsense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		17836517	141302146	12	9629											
C7orf41	222166	hgsc.bcm.edu	37	chr7	30185862	30185862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggattacatctcctcctgcGgcaagaagacgctccacgaa	12	7	9	13	3	1	2	0	0	1	2	4	4	3	3	3	2	2	2	3	2	4	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr7:30185862G>T	ENST00000324453.8	+	2	559	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	C7orf41_ENST00000455738.1_Missense_Mutation_p.G45C|C7orf41_ENST00000415604.1_Missense_Mutation_p.G78C|C7orf41_ENST00000409688.1_Intron|C7orf41_ENST00000324489.5_Missense_Mutation_p.G45C	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		78					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						CTCCTCCTGCGGCAAGAAGAC	0.537																																					p.G78C													.	.			0			c.G232T												71	66	68					7																	30185862		2203	4300	6503	SO:0001583	missense	222166	exon2			TCCTGCGGCAAGA																												ENST00000324453.8:c.232G>T	7.37:g.30185862G>T	ENSP00000324204:p.Gly78Cys		107	0	0		145	0.03	5	NM_152793	133	0	0	B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587478	0.66105	.	.	ENSG00000180354	ENST00000324453;ENST00000415604;ENST00000434060;ENST00000324489;ENST00000455738	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.70092	-0.4967	9	0.72032	D	0.01	-19.9569	18.5448	0.91042	0.0:0.0:1.0:0.0	.	78	Q8N3F0	CG041_HUMAN	C	78;78;61;45;45	.	ENSP00000324204:G78C	G	+	1	0	C7orf41	30152387	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.840000	0.86819	2.622000	0.88805	0.549000	0.68633	GGC			0.537	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250409.1				T	30185862	G	T	30185862	3	4	129	1	0	0	0	0	1	0	0	0	2393	1116	39	1	238	1	C7orf41	7	30185862	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	12349345	30185862	128952801	13	9630											
TECPR1	25851	mdanderson.org	37	chr7	97861128	97861128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaccttcttctcctcGtggaccacatagtagatgaa	9	11	10	11	1	2	2	0	1	2	1	4	3	2	3	3	2	0	2	3	2	3	4	rs201920447	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr7:97861128G>T	ENST00000447648.2	-	13	2261	c.1962C>A	c.(1960-1962)caC>caA	p.H654Q	TECPR1_ENST00000542604.1_Missense_Mutation_p.H584Q|TECPR1_ENST00000379795.3_Missense_Mutation_p.H655Q			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	654	PH.				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						TCTTCTCCTCGTGGACCACAT	0.647																																					p.H654Q													.	.			0			c.C1962A												90	97	95					7																	97861128		2031	4186	6217	SO:0001583	missense	25851	exon13			CTCCTCGTGGACC		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.1962C>A	7.37:g.97861128G>T	ENSP00000404923:p.His654Gln		41	0	0		26	0.12	3	NM_015395	16	0	0	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883327	0.33255	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.28895	1.59;1.59;1.59	5.25	-2.86	0.05717	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.230351	0.44483	D	0.000454	T	0.21962	0.0529	L	0.41236	1.265	0.25190	N	0.990135	B;B	0.27316	0.175;0.065	B;B	0.28638	0.092;0.009	T	0.18587	-1.0332	10	0.35671	T	0.21	-20.6989	12.5263	0.56087	0.7234:0.0:0.2766:0.0	.	584;654	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	Q	654;655;584	ENSP00000404923:H654Q;ENSP00000369121:H655Q;ENSP00000441121:H584Q	ENSP00000369121:H655Q	H	-	3	2	TECPR1	97699064	0.019000	0.18553	0.985000	0.45067	0.926000	0.56050	-0.763000	0.04740	-0.457000	0.07033	-0.136000	0.14681	CAC			0.647	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000334661.1		NM_015395		T	97861128	G	T	97861128	3	4	129	1	0	0	0	0	1	0	0	0	15766	1136	40	1	1591	1	TECPR1	7	97861128	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	67675266	97861128	61277535	14	9631											
PRKDC	5591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	48746932	48746932	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtcagtgctgctcccggtCagccaatcaaatgagcttct	8	10	11	12	1	4	1	3	1	1	0	5	1	5	1	2	2	4	3	2	2	2	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr8:48746932C>G	ENST00000314191.2	-	60	8030	c.7974G>C	c.(7972-7974)ctG>ctC	p.L2658L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L2658L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2659	KIP-binding.				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)	TGCTCCCGGTCAGCCAATCAA	0.572								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)												.	.			0			.												94	105	101					8																	48746932		2185	4282	6467	SO:0001819	synonymous_variant	5591	.			CCCGGTCAGCCAA		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.7974G>C	8.37:g.48746932C>G			88	0	0		121	0.08	10	.	288	0.14	41	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																						0.572	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001081640		G	48746932	C	G	48746932	2	3	129	1	0	0	0	0	0	0	0	1	12541	813	29	5		5	PRKDC	8	48746932	Silent	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10		48746932	97617090	15	9632											
NSMAF	8439	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	59572148	59572148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacctctccttggagtagaGctgcagctgctgctcctgct	5	11	11	14	0	1	1	0	0	1	1	3	2	2	2	3	1	6	8	3	1	1	2	rs148456704	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr8:59572148G>C	ENST00000038176.3	-	1	255	c.43C>G	c.(43-45)Ctc>Gtc	p.L15V	NSMAF_ENST00000427130.2_5'Flank|snoU13_ENST00000459488.1_RNA	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	15					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)				TTGGAGTAGAGCTGCAGCTGC	0.721													G|||	10	0.00199681	0	0	5008	,	,		12352	0.0099		0	False		,,,				2504	0				p.L15V													.	.			0			c.C43G																																									SO:0001583	missense	8439	exon1			AGTAGAGCTGCAG	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.43C>G	8.37:g.59572148G>C	ENSP00000038176:p.Leu15Val		56	0	0		55	0.07	4	NM_003580	166	0.1	16	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	14.18	2.458621	0.43634	.	.	ENSG00000035681	ENST00000038176	T	0.52754	0.65	2.56	2.56	0.30785	.	1.496370	0.04510	U	0.382740	T	0.30885	0.0779	L	0.36672	1.1	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15549	-1.0433	9	.	.	.	.	8.6101	0.33797	0.0:0.0:1.0:0.0	.	15;15	A8K9G4;Q92636	.;FAN_HUMAN	V	15	ENSP00000038176:L15V	.	L	-	1	0	NSMAF	59734702	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	3.272000	0.51616	1.420000	0.47138	0.462000	0.41574	CTC	0.003		0.721	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378384.1		NM_003580		C	59572148	G	C	59572148	3	2	129	1	0	0	0	0	1	0	0	0	10691	971	34	5	2990	5	NSMAF	8	59572148	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	10825216	59572148	86791874	16	9633											
CIZ1	25792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	130941502	130941502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtggatggtatccgCggctgagtctgtgactgcac	5	12	15	9	2	2	2	0	2	2	0	3	3	3	3	1	3	1	3	1	3	1	1	rs145714867	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr9:130941502C>T	ENST00000393608.1	-	8	1186	c.984G>A	c.(982-984)ccG>ccA	p.P328P	CIZ1_ENST00000325721.8_Silent_p.P299P|CIZ1_ENST00000372948.3_Silent_p.P328P|CIZ1_ENST00000372954.1_Silent_p.P304P|CIZ1_ENST00000541172.1_Silent_p.P227P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Silent_p.P328P|CIZ1_ENST00000372938.5_Silent_p.P328P|CIZ1_ENST00000357558.5_Silent_p.P328P|CIZ1_ENST00000277465.4_Silent_p.P328P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	328	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ATGGTATCCGCGGCTGAGTCT	0.617																																					p.P358P													.	.			0			c.G1074A							C	,,,,	2,4404	4.2+/-10.8	0,2,2201	76	79	78		984,984,969,912,984	-2.1	0.1	9	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,,,	328/843,328/899,323/838,304/819,328/899	130941502	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	25792	exon8			TATCCGCGGCTGA	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.984G>A	9.37:g.130941502C>T			62	0	0		59	0.12	7	NM_001257975	219	0.35	76	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	CCDS6894.1																																																																																			0		0.617	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054399.1		NM_012127		T	130941502	C	T	130941502	2	4	129	1	0	0	0	0	0	0	0	1	3443	755	27	1		1	CIZ1	9	130941502	Silent	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10		130941502	10271929	17	9634											
MUC6	4588	bcgsc.ca	37	chr11	1016908	1016908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggagtgtgtggtgaaggGtgtgggtagcctgctgctgc	4	11	21	5	0	0	1	0	1	0	0	0	2	0	2	1	5	4	3	1	5	2	1	rs79018624		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:1016908G>T	ENST00000421673.2	-	31	5943	c.5893C>A	c.(5893-5895)Ccc>Acc	p.P1965T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1965	Thr-rich.				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)		GTGGTGAAGGGTGTGGGTAGC	0.587																																					p.P1965T													.	MUC6	408		0			c.C5893A												828	844	838					11																	1016908		2203	4297	6500	SO:0001583	missense	4588	exon31			TGAAGGGTGTGGG	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.5893C>A	11.37:g.1016908G>T	ENSP00000406861:p.Pro1965Thr		314	0.0191082803	6		196	0.04	8	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057473	0.19907	.	.	ENSG00000184956	ENST00000421673	T	0.57595	0.39	3.12	-0.333	0.12671	.	.	.	.	.	T	0.30510	0.0767	L	0.44542	1.39	0.09310	N	1	B	0.34290	0.447	B	0.29440	0.102	T	0.25916	-1.0118	9	0.02654	T	1	.	3.2717	0.06884	0.1091:0.1689:0.5489:0.173	.	1965	Q6W4X9	MUC6_HUMAN	T	1965	ENSP00000406861:P1965T	ENSP00000406861:P1965T	P	-	1	0	MUC6	1006908	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-1.369000	0.02578	-0.159000	0.11021	0.313000	0.20887	CCC			0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540		T	1016908	G	T	1016908	3	4	129	1	0	0	0	0	1	0	0	0	9996	1261	44	3	1438	3	MUC6	11	1016908	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		1016908	133989608	18	9635											
KCNJ11	3767	mdanderson.org	37	chr11	17409231	17409231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactcctcagtcaccatGcgccccccaaagccaatagt	10	6	8	17	1	2	0	2	0	0	0	3	0	3	0	6	1	2	1	6	1	3	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:17409231G>T	ENST00000339994.4	-	1	975	c.408C>A	c.(406-408)cgC>cgA	p.R136R	KCNJ11_ENST00000528731.1_Silent_p.R49R|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	136			R -> L (in HHF2). {ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:16357843}.		cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CAGTCACCATGCGCCCCCCAA	0.562																																					p.R136R													.	.			0			c.C408A												120	94	103					11																	17409231		2200	4293	6493	SO:0001819	synonymous_variant	3767	exon1			CACCATGCGCCCC	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.408C>A	11.37:g.17409231G>T			72	0	0		39	0.08	3	NM_000525	0		0	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	3.558	-0.090214	0.07053	.	.	ENSG00000187486	ENST00000528992	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	T	0.64821	0.2633	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63510	-0.6621	4	.	.	.	.	13.1272	0.59363	0.0:0.0:0.8399:0.1601	.	.	.	.	E	142	.	.	A	-	2	0	KCNJ11	17365807	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.472000	0.35376	2.281000	0.76405	0.462000	0.41574	GCA			0.562	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387037.1		NM_000525		T	17409231	G	T	17409231	2	4	129	1	0	0	0	0	0	0	0	1	8060	1306	46	2		2	KCNJ11	11	17409231	Silent	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	16392323	17409231	117597285	19	9636											
DGKZ	8525	mdanderson.org	37	chr11	46400583	46400583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgacctcatgcaccgaGacgagcagagtcgcacgctc	9	4	14	14	5	1	2	1	0	0	2	3	5	1	2	2	2	2	4	2	2	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:46400583G>T	ENST00000454345.1	+	29	3150	c.3025G>T	c.(3025-3027)Gac>Tac	p.D1009Y	MDK_ENST00000359803.3_5'Flank|MDK_ENST00000395565.1_5'Flank|MDK_ENST00000395566.4_5'Flank|DGKZ_ENST00000421244.2_Missense_Mutation_p.D821Y|DGKZ_ENST00000318201.8_Missense_Mutation_p.D798Y|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000528615.1_Missense_Mutation_p.D599Y|DGKZ_ENST00000532868.2_Missense_Mutation_p.D825Y|DGKZ_ENST00000343674.6_Missense_Mutation_p.D837Y|DGKZ_ENST00000395574.3_Missense_Mutation_p.D787Y|MDK_ENST00000407067.1_5'Flank|DGKZ_ENST00000543978.1_Missense_Mutation_p.D173Y|MDK_ENST00000405308.2_5'Flank|MDK_ENST00000395569.4_5'Flank|DGKZ_ENST00000456247.2_Missense_Mutation_p.D820Y|DGKZ_ENST00000527911.1_Missense_Mutation_p.D821Y	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1009					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CATGCACCGAGACGAGCAGAG	0.682																																					p.D1009Y													.	.			0			c.G3025T												23	22	22					11																	46400583		2198	4290	6488	SO:0001583	missense	8525	exon29			CACCGAGACGAGC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.3025G>T	11.37:g.46400583G>T	ENSP00000412178:p.Asp1009Tyr		21	0	0		17	0.12	2	NM_001105540	344	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831519	0.71258	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;0.19;-0.99;-0.99;-0.99;-0.99;-0.99	4.09	4.09	0.47781	Ankyrin repeat-containing domain (3);	0.053258	0.64402	D	0.000001	D	0.88727	0.6515	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.997;0.998;0.999;0.994;0.996;0.999;0.998;0.997	P;D;D;P;D;D;D;P	0.70716	0.897;0.933;0.933;0.897;0.952;0.97;0.933;0.897	D	0.91676	0.5354	10	0.66056	D	0.02	.	16.4599	0.84033	0.0:0.0:1.0:0.0	.	798;786;821;1009;820;821;787;837	B7Z2M9;B7Z6M3;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;DGKZ_HUMAN;.;.;.;.	Y	837;599;787;786;173;821;820;821;798;1009	ENSP00000343065:D837Y;ENSP00000434719:D599Y;ENSP00000378941:D787Y;ENSP00000436273:D786Y;ENSP00000438417:D173Y;ENSP00000436291:D821Y;ENSP00000395684:D820Y;ENSP00000391021:D821Y;ENSP00000320340:D798Y;ENSP00000412178:D1009Y	ENSP00000320340:D798Y	D	+	1	0	DGKZ	46357159	1.000000	0.71417	0.400000	0.26346	0.474000	0.32979	9.476000	0.97823	2.305000	0.77605	0.561000	0.74099	GAC			0.682	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000389772.1		NM_001105540		T	46400583	G	T	46400583	3	4	129	1	0	0	0	0	1	0	0	0	4479	942	33	3	3582	3	DGKZ	11	46400583	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	28991352	46400583	88605933	20	9637											
C1QTNF4	114900	mdanderson.org	37	chr11	47612009	47612009	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcatggcgctctggctGgctgcgcgccgcgcgcctgg	2	7	17	15	6	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:47612009G>T	ENST00000302514.3	-	2	870	c.354C>A	c.(352-354)gcC>gcA	p.A118A		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	118	C1q 1. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CGCTCTGGCTGGCTGCGCGCC	0.726																																					p.A118A													.	.			0			c.C354A												2	2	2					11																	47612009		1442	3035	4477	SO:0001819	synonymous_variant	114900	exon2			CTGGCTGGCTGCG	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"complement-c1q tumor necrosis factor-related protein 4"	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.354C>A	11.37:g.47612009G>T			26	0	0		15	0.13	2	NM_031909	6	0	0	Q8IV25	Silent	SNP	ENST00000302514.3	37	CCDS7942.1																																																																																					0.726	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391772.1		NM_031909		T	47612009	G	T	47612009	2	4	129	1	0	0	0	0	0	0	0	1	1967	1335	47	3		3	C1QTNF4	11	47612009	Silent	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	1211426	47612009	87394507	21	9638											
P2RX3	5024	mdanderson.org	37	chr11	57114905	57114905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagtgaggagaaataccGctgtgtatcagacagccagt	14	7	12	8	1	1	4	1	1	0	3	1	5	1	4	2	1	2	2	2	1	3	2	rs146469943		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:57114905G>T	ENST00000263314.2	+	4	378	c.344G>T	c.(343-345)cGc>cTc	p.R115L		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	115					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GAGAAATACCGCTGTGTATCA	0.612																																					p.R115L													.	.			0			c.G344T												44	34	37					11																	57114905		2187	4261	6448	SO:0001583	missense	5024	exon4			AATACCGCTGTGT	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.344G>T	11.37:g.57114905G>T	ENSP00000263314:p.Arg115Leu		39	0	0		36	0.08	3	NM_002559	1	0	0	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680647	0.29872	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04049	3.72	5.39	-1.27	0.09347	.	0.747973	0.13589	N	0.376791	T	0.02494	0.0076	N	0.15975	0.35	0.30316	N	0.788073	B	0.22746	0.074	B	0.24701	0.055	T	0.44174	-0.9345	10	0.20519	T	0.43	-10.3836	4.9946	0.14231	0.4686:0.1694:0.362:0.0	.	115	P56373	P2RX3_HUMAN	L	115	ENSP00000263314:R115L	ENSP00000263314:R115L	R	+	2	0	P2RX3	56871481	0.727000	0.28069	0.995000	0.50966	0.632000	0.37999	0.274000	0.18680	0.029000	0.15352	-0.224000	0.12420	CGC			0.612	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392465.1		NM_002559		T	57114905	G	T	57114905	3	4	129	1	0	0	0	0	1	0	0	0	11358	1087	38	1	358	1	P2RX3	11	57114905	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	9502896	57114905	77891611	22	9639											
EEF1G	1937	mdanderson.org	37	chr11	62341310	62341310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaacttaccccagccGccatggtgattccgcaaaga	12	6	8	15	2	0	2	0	1	0	1	1	2	1	2	6	1	4	2	6	1	3	2			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:62341310G>A	ENST00000329251.4	-	1	135	c.5C>T	c.(4-6)gCg>gTg	p.A2V	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Intron|EEF1G_ENST00000532986.1_Intron	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	2	GST N-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACCCCAGCCGCCATGGTGAT	0.627																																					p.A2V													.	.			0			c.C5T												31	38	36					11																	62341310		1901	4099	6000	SO:0001583	missense	1937	exon1			CCAGCCGCCATGG	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.5C>T	11.37:g.62341310G>A	ENSP00000331901:p.Ala2Val		31	0	0		22	0.14	3	NM_001404	835	0	0	B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535589	0.85812	.	.	ENSG00000254772	ENST00000329251	T	0.25749	1.78	5.02	5.02	0.67125	Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (2);	.	.	.	.	T	0.21145	0.0509	N	0.19112	0.55	0.80722	D	1	D	0.55385	0.971	P	0.46362	0.514	T	0.01500	-1.1339	9	0.33141	T	0.24	.	14.1882	0.65620	0.0:0.0:1.0:0.0	.	2	P26641	EF1G_HUMAN	V	2	ENSP00000331901:A2V	ENSP00000331901:A2V	A	-	2	0	EEF1G	62097886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.271000	0.43364	2.491000	0.84063	0.563000	0.77884	GCG			0.627	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395047.1		NM_001404		A	62341310	G	A	62341310	3	1	129	1	0	0	0	0	1	0	0	0	4933	1087	38	1	1348	1	EEF1G	11	62341310	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	5226405	62341310	72665206	23	9640											
VEGFB	7423	broad.mit.edu	37	chr11	64005048	64005048	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcgccctgacccccggAcctgccgctgccgctgccga	5	4	11	21	5	0	1	0	1	0	0	0	3	0	2	8	1	4	2	8	1	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:64005048A>C	ENST00000309422.2	+	6	863	c.567A>C	c.(565-567)ggA>ggC	p.G189G	VEGFB_ENST00000426086.2_Missense_Mutation_p.T156P	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	189					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|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)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TGACCCCCGGACCTGCCGCTG	0.711																																					p.T156P													.	VEGFB	18		0			c.A466C												7	8	8					11																	64005048		2097	4151	6248	SO:0001819	synonymous_variant	7423	exon6			CCCCGGACCTGCC	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.567A>C	11.37:g.64005048A>C			31	0.2258064516	7		33	0.3	10	NM_001243733	120	0.05	6	Q16528	Missense_Mutation	SNP	ENST00000309422.2	37	CCDS8062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.54|15.54	2.863730|2.863730	0.51482|0.51482	.|.	.|.	ENSG00000173511|ENSG00000173511	ENST00000541681|ENST00000426086	.|.	.|.	.|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|.	.|.	.|.	.|.	T|T	0.58666|0.58666	0.2138|0.2138	.|.	.|.	.|.	0.19775|0.19775	N|N	0.99995|0.99995	.|D	.|0.71674	.|0.998	.|D	.|0.68943	.|0.961	T|T	0.51718|0.51718	-0.8670|-0.8670	4|7	.|0.87932	.|D	.|0	-0.3664|-0.3664	8.2815|8.2815	0.31902|0.31902	0.8235:0.0:0.0:0.1765|0.8235:0.0:0.0:0.1765	.|.	.|156	.|P49765-2	.|.	A|P	14|156	.|.	.|ENSP00000401550:T156P	D|T	+|+	2|1	0|0	VEGFB|VEGFB	63761624|63761624	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.485000|1.485000	0.35519|0.35519	1.973000|1.973000	0.57446|0.57446	0.459000|0.459000	0.35465|0.35465	GAC|ACC			0.711	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000396393.2		NM_003377		C	64005048	A	C	64005048	2	2	129	1	0	0	0	0	0	0	0	1	17175	262	10	4		4	VEGFB	11	64005048	Silent	SNP	A	TCGA-XY-A9T9-01A-11D-A435-10	1663738	64005048	71001468	24	9641											
SF1	7536	mdanderson.org	37	chr11	64535590	64535590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggctcaccggtggaggtggGttgttggcgggagcagcagg	6	7	21	7	2	1	0	1	0	0	0	1	2	1	2	1	8	2	5	1	8	0	2			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:64535590G>T	ENST00000377390.3	-	9	1393	c.1056C>A	c.(1054-1056)aaC>aaA	p.N352K	SF1_ENST00000422298.2_Missense_Mutation_p.N237K|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000334944.5_Missense_Mutation_p.N352K|SF1_ENST00000227503.9_Missense_Mutation_p.N352K|SF1_ENST00000377387.1_Missense_Mutation_p.N477K|SF1_ENST00000377394.3_Missense_Mutation_p.N352K|SF1_ENST00000433274.2_Missense_Mutation_p.N326K	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	352	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GTGGAGGTGGGTTGTTGGCGG	0.642											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N477K													.	.			0			c.C1431A												45	47	46					11																	64535590		2201	4297	6498	SO:0001583	missense	7536	exon9			AGGTGGGTTGTTG	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1056C>A	11.37:g.64535590G>T	ENSP00000366607:p.Asn352Lys		31	0	0	1077	31	0.1	3	NM_001178030	619	0	0	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167088	0.38217	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274;ENST00000486867	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.41	3.54	0.40534	.	0.000000	0.35436	U	0.003217	T	0.37293	0.0998	L	0.50333	1.59	0.42926	D	0.994305	B;B;B;B;B;P	0.40476	0.056;0.435;0.207;0.131;0.207;0.718	B;B;B;B;B;B	0.41764	0.013;0.206;0.206;0.064;0.136;0.366	T	0.08911	-1.0699	10	0.22706	T	0.39	.	10.5108	0.44860	0.1588:0.0:0.8412:0.0	.	237;352;352;352;352;477	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	K	477;352;352;352;352;237;326;73	ENSP00000366604:N477K;ENSP00000366607:N352K;ENSP00000227503:N352K;ENSP00000366611:N352K;ENSP00000334414:N352K;ENSP00000413084:N237K;ENSP00000396793:N326K;ENSP00000419062:N73K	ENSP00000227503:N352K	N	-	3	2	SF1	64292166	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.176000	0.42500	0.845000	0.35118	0.561000	0.74099	AAC			0.642	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000143242.1		NM_004630		T	64535590	G	T	64535590	3	4	129	1	0	0	0	0	1	0	0	0	14168	1252	44	3	1021	3	SF1	11	64535590	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	530542	64535590	70470926	25	9642											
PDGFD	80310	mdanderson.org	37	chr11	103814199	103814199	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttttgacttccggtcatgGtatgacctgcctcgataccg	6	13	9	13	3	1	2	1	2	0	0	3	3	2	2	5	2	2	1	5	2	2	5			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:103814199G>T	ENST00000393158.2	-	5	932	c.753C>A	c.(751-753)taC>taA	p.Y251*	RP11-617B3.2_ENST00000527804.1_RNA|PDGFD_ENST00000302251.5_Nonsense_Mutation_p.Y245*			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	251					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.Y251Y(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCCGGTCATGGTATGACCTGC	0.418																																					p.Y251X													PDGFD_ENST00000393158,NS,carcinoma,0,2	PDGFD_ENST00000393158	0	2	2	Substitution - coding silent(2)	lung(2)	c.C753A												106	89	95					11																	103814199		2202	4299	6501	SO:0001587	stop_gained	80310	exon5			GTCATGGTATGAC	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.753C>A	11.37:g.103814199G>T	ENSP00000376865:p.Tyr251*		70	0	0		47	0.06	3	NM_025208	2	0	0	A8K9T6|Q9BWV5	Nonsense_Mutation	SNP	ENST00000393158.2	37	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	39	7.368027	0.98241	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	.	.	.	5.53	1.53	0.23141	.	0.189990	0.47852	D	0.000215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6147	12.4323	0.55581	0.2125:0.0:0.7875:0.0	.	.	.	.	X	251;245	.	ENSP00000302193:Y245X	Y	-	3	2	PDGFD	103319409	1.000000	0.71417	0.970000	0.41538	0.743000	0.42351	1.673000	0.37534	0.092000	0.17331	-0.961000	0.02630	TAC			0.418	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000387231.2		NM_025208		T	103814199	G	T	103814199	4	4	129	1	0	0	0	0	0	1	0	0	11677	1256	44	3	371	3	PDGFD	11	103814199	Nonsense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	39278609	103814199	31192317	26	9643											
CASP5	838	mdanderson.org	37	chr11	104874075	104874075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtatatttgtagattctgCtgactcaggtggtccagcct	8	14	11	8	0	2	2	1	1	1	1	3	3	3	2	2	2	2	3	2	2	3	5			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:104874075C>T	ENST00000260315.3	-	4	468	c.469G>A	c.(469-471)Gca>Aca	p.A157T	CASP5_ENST00000531367.1_Missense_Mutation_p.A15T|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.A99T|CASP5_ENST00000393141.2_Missense_Mutation_p.A170T|CASP5_ENST00000526056.1_Missense_Mutation_p.A170T|CASP5_ENST00000418434.1_Missense_Mutation_p.A15T			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	157					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)		GTAGATTCTGCTGACTCAGGT	0.403																																					p.A170T													.	.			0			c.G508A												132	131	131					11																	104874075		2202	4299	6501	SO:0001583	missense	838	exon4			ATTCTGCTGACTC		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.469G>A	11.37:g.104874075C>T	ENSP00000260315:p.Ala157Thr		51	0	0		43	0.07	3	NM_001136112	2	0	0	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	12.18	1.861941	0.32884	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367;ENST00000456094	T;T;T;T;T;T;T	0.13420	4.69;4.34;4.7;4.59;4.69;4.34;2.59	3.77	0.712	0.18167	.	1.144530	0.06571	N	0.748518	T	0.10165	0.0249	L	0.38838	1.175	0.19300	N	0.999978	B;B;B;B	0.28208	0.016;0.097;0.032;0.203	B;B;B;B	0.25506	0.013;0.053;0.028;0.061	T	0.38329	-0.9666	10	0.30854	T	0.27	.	3.7139	0.08430	0.1924:0.5823:0.0:0.2252	.	15;99;157;170	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	T	170;15;157;99;170;15;141	ENSP00000376849:A170T;ENSP00000398130:A15T;ENSP00000260315:A157T;ENSP00000388365:A99T;ENSP00000436877:A170T;ENSP00000434471:A15T;ENSP00000415241:A141T	ENSP00000260315:A157T	A	-	1	0	CASP5	104379285	0.004000	0.15560	0.006000	0.13384	0.393000	0.30537	0.388000	0.20735	0.030000	0.15379	0.404000	0.27445	GCA			0.403	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000109397.2		NM_004347		T	104874075	C	T	104874075	3	4	129	1	0	0	0	0	1	0	0	0	2676	797	28	2	859	2	CASP5	11	104874075	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	1059876	104874075	30132441	27	9644											
SNX19	399979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	130748342	130748342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagacacccatcctcttaGagttgcctggggtatctgag	9	10	12	10	0	2	3	0	1	2	2	3	4	3	3	3	3	1	2	3	3	2	3			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:130748342G>C	ENST00000265909.4	-	11	3523	c.2954C>G	c.(2953-2955)tCt>tGt	p.S985C	SNX19_ENST00000528555.1_Missense_Mutation_p.S365C|SNX19_ENST00000426933.2_Missense_Mutation_p.S153C|SNX19_ENST00000530356.1_Missense_Mutation_p.S365C|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.S428C|SNX19_ENST00000545537.1_Missense_Mutation_p.S225C|SNX19_ENST00000534726.1_Missense_Mutation_p.S225C	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	985					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CATCCTCTTAGAGTTGCCTGG	0.532																																					p.S985C													.	.			0			c.C2954G												123	107	112					11																	130748342		2201	4297	6498	SO:0001583	missense	399979	exon11			CTCTTAGAGTTGC	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2954C>G	11.37:g.130748342G>C	ENSP00000265909:p.Ser985Cys		96	0	0		83	0.23	19	NM_014758	63	0.22	14	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	9.849	1.193028	0.21954	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.34275	2.84;1.42;1.42;1.37;1.85;1.85;2.17	5.58	3.71	0.42584	.	0.710115	0.13302	N	0.398195	T	0.30230	0.0758	N	0.22421	0.69	0.09310	N	1	P;P	0.42649	0.786;0.681	P;B	0.46339	0.513;0.315	T	0.08126	-1.0737	10	0.45353	T	0.12	-2.8862	8.2561	0.31758	0.2682:0.0:0.7318:0.0	.	428;985	F5H5D1;Q92543	.;SNX19_HUMAN	C	985;225;225;153;365;365;428	ENSP00000265909:S985C;ENSP00000433699:S225C;ENSP00000437982:S225C;ENSP00000413345:S153C;ENSP00000435122:S365C;ENSP00000432307:S365C;ENSP00000443480:S428C	ENSP00000265909:S985C	S	-	2	0	SNX19	130253552	0.911000	0.30947	0.896000	0.35187	0.300000	0.27592	0.785000	0.26830	0.707000	0.31934	0.655000	0.94253	TCT			0.532	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385649.1		NM_014758		C	130748342	G	C	130748342	3	2	129	1	0	0	0	0	1	0	0	0	14913	942	33	5	28	5	SNX19	11	130748342	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	25874267	130748342	4258174	28	9645											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	25378561	25378561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttacctgtcttgtctttGctgatgtttcaataaaagga	10	17	7	7	0	3	1	1	1	2	0	3	2	3	2	1	1	3	2	1	1	5	6			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr12:25378561G>A	ENST00000256078.4	-	4	500	c.437C>T	c.(436-438)gCa>gTa	p.A146V	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.A146V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	146			A -> T (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.A146V(20)	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)			TCTTGTCTTTGCTGATGTTTC	0.318		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.A146V	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,colon,carcinoma,0,137	KRAS_ENST00000256078	0	137	20	Substitution - Missense(20)	large_intestine(17)|thyroid(2)|haematopoietic_and_lymphoid_tissue(1)	c.C437T												207	188	194					12																	25378561		2203	4300	6503	SO:0001583	missense	3845	exon4	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	GTCTTTGCTGATG	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.437C>T	12.37:g.25378561G>A	ENSP00000256078:p.Ala146Val		51	0	0		97	0.19	18	NM_004985	197	0.23	45	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217565	0.95104	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88818	-2.43;-2.43	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.95236	0.8455	M	0.90595	3.13	0.80722	D	1	D;D	0.76494	0.999;0.998	P;D	0.62955	0.802;0.909	D	0.95726	0.8770	10	0.87932	D	0	.	18.7849	0.91951	0.0:0.0:1.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	V	146	ENSP00000308495:A146V;ENSP00000256078:A146V	ENSP00000256078:A146V	A	-	2	0	KRAS	25269828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.795000	0.99099	2.757000	0.94681	0.585000	0.79938	GCA			0.318	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360		A	25378561	G	A	25378561	3	1	129	1	0	0	0	0	1	0	0	0	8453	1319	46	2	261	2	KRAS	12	25378561	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		25378561	108473334	29	9646											
PPP1R12A	4659	bcgsc.ca;mdanderson.org	37	chr12	80202290	80202290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctcttcaatgtcagatGtactggctagtcgtcttggt	6	17	9	9	1	4	1	2	0	2	1	6	1	4	1	0	2	1	2	0	2	3	5			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr12:80202290G>T	ENST00000450142.2	-	11	1789	c.1523C>A	c.(1522-1524)aCa>aAa	p.T508K	PPP1R12A_ENST00000550107.1_Missense_Mutation_p.T508K|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T421K|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T508K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T508K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	508					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AATGTCAGATGTACTGGCTAG	0.318																																					p.T508K													.	PPP1R12A	76		0			c.C1523A												138	135	136					12																	80202290		1833	4083	5916	SO:0001583	missense	4659	exon11			TCAGATGTACTGG	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1523C>A	12.37:g.80202290G>T	ENSP00000389168:p.Thr508Lys		92	0	0		111	0.05	5	NM_002480	70	0	0	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.443222|4.443222	0.83993|0.83993	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000553081|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	.|T;T;T;T;T;T;T	.|0.50001	.|1.17;1.17;1.14;1.17;1.06;1.04;0.76	5.26|5.26	4.36|4.36	0.52297|0.52297	.|.	.|0.046814	.|0.85682	.|D	.|0.000000	T|T	0.58090|0.58090	0.2098|0.2098	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;P;P;D	.|0.57257	.|0.969;0.95;0.718;0.979	.|P;P;B;P	.|0.53313	.|0.723;0.571;0.215;0.628	T|T	0.64028|0.64028	-0.6503|-0.6503	5|10	.|0.72032	.|D	.|0.01	.|.	14.2376|14.2376	0.65937|0.65937	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	.|508;508;508;508	.|F8W8Q6;O14974-2;O14974-3;O14974	.|.;.;.;MYPT1_HUMAN	N|K	112|508;508;508;508;508;508;508;421;508;508;203	.|ENSP00000261207:T508K;ENSP00000389168:T508K;ENSP00000416769:T508K;ENSP00000449514:T421K;ENSP00000446855:T508K;ENSP00000446816:T508K;ENSP00000450061:T203K	.|ENSP00000261207:T508K	H|T	-|-	1|2	0|0	PPP1R12A|PPP1R12A	78726421|78726421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.272000|9.272000	0.95707|0.95707	2.450000|2.450000	0.82876|0.82876	0.655000|0.655000	0.94253|0.94253	CAT|ACA			0.318	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407254.2		NM_002480		T	80202290	G	T	80202290	3	4	129	1	0	0	0	0	1	0	0	0	12374	1377	48	3	1629	3	PPP1R12A	12	80202290	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	54823729	80202290	53649605	30	9647											
CCDC64	92558	mdanderson.org	37	chr12	120427799	120427799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgccgccgccgccgccCtcatcttccccgggggctcc	1	6	11	23	6	2	0	1	0	1	0	5	0	5	0	9	2	0	1	9	2	0	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr12:120427799C>A	ENST00000397558.2	+	1	127	c.127C>A	c.(127-129)Ctc>Atc	p.L43I		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	43					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCCGCCGCCCTCATCTTCCC	0.776																																					p.L43I													.	.			0			c.C127A												2	2	2					12																	120427799		1105	2831	3936	SO:0001583	missense	92558	exon1			GCCGCCCTCATCT	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.127C>A	12.37:g.120427799C>A	ENSP00000380690:p.Leu43Ile		19	0	0		13	0.15	2	NM_207311	3	0	0	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	c	3.840	-0.033912	0.07543	.	.	ENSG00000135127	ENST00000357093;ENST00000397558	T	0.33654	1.4	3.59	2.59	0.31030	.	3.874620	0.01535	N	0.018949	T	0.21718	0.0523	N	0.08118	0	0.58432	D	0.999992	B	0.15473	0.013	B	0.14023	0.01	T	0.25502	-1.0130	10	0.19147	T	0.46	0.0276	7.9492	0.30003	0.0:0.7035:0.1834:0.1132	.	43	Q6ZP65	BICR1_HUMAN	I	43	ENSP00000380690:L43I	ENSP00000349605:L43I	L	+	1	0	CCDC64	118912182	0.108000	0.22018	0.996000	0.52242	0.997000	0.91878	0.523000	0.22925	1.555000	0.49500	0.552000	0.68991	CTC			0.776	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000403390.2		NM_207311		A	120427799	C	A	120427799	3	1	129	1	0	0	0	0	1	0	0	0	2837	681	24	3	129	3	CCDC64	12	120427799	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	40225509	120427799	13424096	31	9648											
DACH1	1602	mdanderson.org	37	chr13	72440446	72440446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctactactGctgctgctgctgctgctgct	2	14	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	2			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr13:72440446G>A	ENST00000359684.2	-	1	461	c.462C>T	c.(460-462)agC>agT	p.S154S	DACH1_ENST00000305425.4_Silent_p.S154S|DACH1_ENST00000354591.4_Silent_p.S154S|DACH1_ENST00000313174.7_Silent_p.S154S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	154	Poly-Ser.				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)		tgctactactgctgctgctgc	0.662																																					p.S154S													.	.			0			c.C462T												3	4	4					13																	72440446		1701	3505	5206	SO:0001819	synonymous_variant	1602	exon1			ACTACTGCTGCTG	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.462C>T	13.37:g.72440446G>A			37	0.027027027	1		17	0.12	2	NM_080759	3	0	0	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37																																																																																						0.662	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000045240.1		NM_004392		A	72440446	G	A	72440446	2	1	129	1	0	0	0	0	0	0	0	1	4222	1310	46	2		2	DACH1	13	72440446	Silent	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		72440446	42729432	32	9649											
SPTB	6710	mdanderson.org	37	chr14	65260086	65260086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacatcttcaccagagagCagccggtgggcgtcttgcag	8	7	12	14	2	3	1	1	0	2	1	3	2	3	1	3	2	3	2	3	2	0	2			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr14:65260086C>T	ENST00000389721.5	-	13	2327	c.2295G>A	c.(2293-2295)ctG>ctA	p.L765L	SPTB_ENST00000542895.1_Silent_p.L765L|SPTB_ENST00000556626.1_Silent_p.L765L|SPTB_ENST00000389720.3_Silent_p.L765L|SPTB_ENST00000389722.3_Silent_p.L765L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	765					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)		CACCAGAGAGCAGCCGGTGGG	0.607																																					p.L765L													.	.			0			c.G2295A												35	38	37					14																	65260086		2203	4300	6503	SO:0001819	synonymous_variant	6710	exon13			AGAGAGCAGCCGG		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.2295G>A	14.37:g.65260086C>T			34	0	0		37	0.08	3	NM_001024858	3	0	0	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																					0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000414080.1				T	65260086	C	T	65260086	2	4	129	1	0	0	0	0	0	0	0	1	15141	697	25	2		2	SPTB	14	65260086	Silent	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10		65260086	42089454	33	9650											
PTPN21	11099	mdanderson.org	37	chr14	88945892	88945892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgcagctgcgcgtggCgcgcggcggtgaggggctcg	2	8	21	10	7	0	1	0	1	0	0	1	1	0	1	0	5	3	4	0	5	0	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr14:88945892C>T	ENST00000556564.1	-	13	2167	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H	PTPN21_ENST00000328736.3_Missense_Mutation_p.R628H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	628					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						CTGCGCGTGGCGCGCGGCGGT	0.711																																					p.R628H													.	.			0			c.G1883A												20	22	21					14																	88945892		2189	4276	6465	SO:0001583	missense	11099	exon13			GCGTGGCGCGCGG	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.1883G>A	14.37:g.88945892C>T	ENSP00000452414:p.Arg628His		16	0	0		18	0.11	2	NM_007039	12	0	0		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163462	0.38217	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.73897	-0.79;-0.79	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	M	0.69823	2.125	0.36502	D	0.869043	B	0.23377	0.084	B	0.16722	0.016	T	0.78064	-0.2350	10	0.66056	D	0.02	.	18.6636	0.91479	0.0:1.0:0.0:0.0	.	628	Q16825	PTN21_HUMAN	H	628	ENSP00000330276:R628H;ENSP00000452414:R628H	ENSP00000330276:R628H	R	-	2	0	PTPN21	88015645	0.694000	0.27738	0.044000	0.18714	0.453000	0.32348	1.229000	0.32600	2.391000	0.81399	0.591000	0.81541	CGC			0.711	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000410303.1				T	88945892	C	T	88945892	3	4	129	1	0	0	0	0	1	0	0	0	12809	768	27	1	1669	1	PTPN21	14	88945892	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	23685806	88945892	18403648	34	9651											
CHGA	1113	mdanderson.org	37	chr14	93397926	93397926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggcaaagagagaagaGgaggaggaggaggaggagga	16	1	22	2	0	0	3	0	0	0	3	0	11	0	10	0	9	0	2	0	9	2	0	rs371215355|rs575196921	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr14:93397926G>A	ENST00000216492.5	+	6	967	c.687G>A	c.(685-687)gaG>gaA	p.E229E	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	229					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGAGAgaagaggaggaggagg	0.647																																					p.E229E	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												CHGA,colon,carcinoma,0,2	CHGA	0	2	0			c.G687A												30	36	34					14																	93397926		2203	4300	6503	SO:0001819	synonymous_variant	1113	exon6			AGAAGAGGAGGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.687G>A	14.37:g.93397926G>A			62	0	0		62	0.06	4	NM_001275	5	0.2	1	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	ENST00000216492.5	37	CCDS9906.1																																																																																					0.647	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412411.1		NM_001275		A	93397926	G	A	93397926	2	1	129	1	0	0	0	0	0	0	0	1	3340	991	35	3		3	CHGA	14	93397926	Silent	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	4452034	93397926	13951614	35	9652											
LTK	4058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	41804958	41804958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgcctctcagctgcccGgcggcccccacggtcaccac	5	5	10	21	4	2	0	2	0	1	0	3	0	2	0	5	3	3	2	5	3	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr15:41804958G>A	ENST00000263800.6	-	3	402	c.306C>T	c.(304-306)gcC>gcT	p.A102A	LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Silent_p.A102A|LTK_ENST00000355166.5_Silent_p.A102A	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	102					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCAGCTGCCCGGCGGCCCCCA	0.682										TSP Lung(18;0.14)																											p.A102A													LTK_ENST00000263800,NS,carcinoma,-1,2	LTK_ENST00000263800	-1	2	0			c.C306T												11	12	11					15																	41804958		2186	4276	6462	SO:0001819	synonymous_variant	4058	exon3			CTGCCCGGCGGCC	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.306C>T	15.37:g.41804958G>A			45	0	0		29	0.21	6	NM_001135685	1	0	0	A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	37	CCDS10077.1																																																																																					0.682	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252690.2				A	41804958	G	A	41804958	2	1	129	1	0	0	0	0	0	0	0	1	9096	1103	39	1		1	LTK	15	41804958	Silent	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		41804958	60726434	36	9653											
ZNF646	9726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	31088507	31088507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaaccactctcgactgCatgcccagtatcggccttac	10	9	8	14	2	1	2	0	1	1	1	3	3	1	2	3	1	4	2	3	1	4	2			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr16:31088507C>T	ENST00000394979.2	+	1	1285	c.862C>T	c.(862-864)Cat>Tat	p.H288Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.H288Y|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	288					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						CTCTCGACTGCATGCCCAGTA	0.602																																					p.H288Y													.	.			0			c.C862T												105	96	99					16																	31088507		2197	4300	6497	SO:0001583	missense	9726	exon2			CGACTGCATGCCC	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.862C>T	16.37:g.31088507C>T	ENSP00000378429:p.His288Tyr		110	0	0		93	0.18	17	NM_014699	39	0.38	15	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.316898	0.81469	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.41400	1.0;1.0	5.34	5.34	0.76211	.	.	.	.	.	T	0.79215	0.4408	H	0.98388	4.22	0.54753	D	0.999989	D	0.71674	0.998	D	0.87578	0.998	D	0.87698	0.2558	9	0.87932	D	0	-14.1227	17.8034	0.88595	0.0:1.0:0.0:0.0	.	288	O15015-2	.	Y	288;288;53	ENSP00000300850:H288Y;ENSP00000378429:H288Y	ENSP00000300850:H288Y	H	+	1	0	ZNF646	30996008	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.256000	0.78350	2.501000	0.84356	0.655000	0.94253	CAT			0.602	ZNF646-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000108510.2		NM_014699		T	31088507	C	T	31088507	3	4	129	1	0	0	0	0	1	0	0	0	18085	710	25	2	864	2	ZNF646	16	31088507	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10		31088507	59266246	37	9654											
FBXL8	55336	mdanderson.org	37	chr16	67197098	67197098	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcccgagctccacagccTttttctggacaacagtaccc	8	10	7	16	1	1	0	0	0	1	0	3	2	3	1	4	1	4	2	4	1	2	3			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr16:67197098T>C	ENST00000258200.3	+	3	677	c.500T>C	c.(499-501)cTt>cCt	p.L167P	TRADD_ENST00000345057.4_5'Flank|RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000421453.1_5'Flank|HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000264009.8_5'Flank|FBXL8_ENST00000519917.1_Missense_Mutation_p.L167P|HSF4_ENST00000584272.1_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	167										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CTCCACAGCCTTTTTCTGGAC	0.682																																					p.L167P													.	.			0			c.T500C												9	7	8					16																	67197098		2148	4216	6364	SO:0001583	missense	55336	exon3			ACAGCCTTTTTCT	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"F-boxes / Leucine-rich repeats"	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.500T>C	16.37:g.67197098T>C	ENSP00000258200:p.Leu167Pro		24	0.0416666667	1		16	0.13	2	NM_018378	5	0	0	Q9NUM0	Missense_Mutation	SNP	ENST00000258200.3	37	CCDS10831.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282433	0.80692	.	.	ENSG00000135722	ENST00000258200;ENST00000519917	T;T	0.58940	0.3;0.3	4.4	4.4	0.53042	.	0.000000	0.52532	D	0.000066	T	0.71048	0.3294	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.74765	-0.3554	10	0.72032	D	0.01	-9.2966	12.5763	0.56365	0.0:0.0:0.0:1.0	.	167	Q96CD0	FBXL8_HUMAN	P	167	ENSP00000258200:L167P;ENSP00000430490:L167P	ENSP00000258200:L167P	L	+	2	0	FBXL8	65754599	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.201000	0.72124	1.848000	0.53677	0.379000	0.24179	CTT			0.682	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268834.2				C	67197098	T	C	67197098	3	2	129	1	0	0	0	0	1	0	0	0	5738	1609	56	4	506	4	FBXL8	16	67197098	Missense_Mutation	SNP	T	TCGA-XY-A9T9-01A-11D-A435-10	36108591	67197098	23157655	38	9655											
SMG6	23293	mdanderson.org	37	chr17	1964855	1964855	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccttgtgagcgccttCacacgcaggttccggtcatc	7	11	9	14	3	2	1	2	1	0	0	5	1	4	1	3	2	1	2	3	2	0	4			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr17:1964855C>A	ENST00000263073.6	-	19	4241	c.4191G>T	c.(4189-4191)gtG>gtT	p.V1397V	SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Silent_p.V489V|SMG6_ENST00000354901.4_Silent_p.V489V|SMG6_ENST00000544865.1_Silent_p.V1366V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1397	PINc.				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						TGAGCGCCTTCACACGCAGGT	0.637																																					p.V1397V	Melanoma(59;28 1088 11621 25887 46638 50814)												.	.			0			c.G4191T												91	50	64					17																	1964855		2196	4296	6492	SO:0001819	synonymous_variant	23293	exon19			CGCCTTCACACGC	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.4191G>T	17.37:g.1964855C>A			37	0	0		29	0.1	3	NM_017575	67	0	0	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																					0.637	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437826.3				A	1964855	C	A	1964855	2	1	129	1	0	0	0	0	0	0	0	1	14820	813	29	3		3	SMG6	17	1964855	Silent	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10		1964855	79230355	39	9656											
BAHCC1	57597	mdanderson.org	37	chr17	79412681	79412681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagggtcagcagtccaCggccgacatcatcacatccg	9	6	13	13	3	3	0	3	0	0	0	5	2	5	1	3	4	1	1	3	4	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr17:79412681C>T	ENST00000307745.7	+	14	3137	c.3137C>T	c.(3136-3138)aCg>aTg	p.T1046M																								CAGCAGTCCACGGCCGACATC	0.692																																					.													.	.			0			.												17	23	21					17																	79412681		1974	4028	6002	SO:0001583	missense	57597	.			AGTCCACGGCCGA																												ENST00000307745.7:c.3137C>T	17.37:g.79412681C>T	ENSP00000303486:p.Thr1046Met		65	0	0		51	0.06	3	.	2	0	0		Missense_Mutation	SNP	ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	C	2.980	-0.210603	0.06140	.	.	ENSG00000171282	ENST00000307745	T	0.11821	2.74	4.24	-1.68	0.08212	.	1.100690	0.07011	N	0.825114	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.39231	-0.9624	10	0.42905	T	0.14	.	1.4423	0.02357	0.3278:0.1474:0.3818:0.143	.	1046;1046	Q9P281;F8WBW8	BAHC1_HUMAN;.	M	1046	ENSP00000303486:T1046M	ENSP00000303486:T1046M	T	+	2	0	AC110285.1	77027276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.458000	0.06737	-0.112000	0.11979	-2.703000	0.00135	ACG			0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding						T	79412681	C	T	79412681	3	4	129	1	0	0	0	0	1	0	0	0	1296	536	19	1	3006	1	BAHCC1	17	79412681	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10	77447826	79412681	1782529	40	9657											
LAMA3	3909	mdanderson.org	37	chr18	21427621	21427621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggagtgtgaccgggacagCgggcagtgcaggtgagctgg	7	5	20	9	3	0	2	0	2	0	0	0	4	0	4	2	5	3	3	2	5	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr18:21427621C>T	ENST00000313654.9	+	32	4366	c.4125C>T	c.(4123-4125)agC>agT	p.S1375S	LAMA3_ENST00000399516.3_Silent_p.S1375S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1375	Domain III B.|Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)					ACCGGGACAGCGGGCAGTGCA	0.627																																					p.S1375S													.	.			0			c.C4125T												22	28	26					18																	21427621		2186	4281	6467	SO:0001819	synonymous_variant	3909	exon32			GGACAGCGGGCAG	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.4125C>T	18.37:g.21427621C>T			41	0	0		35	0.09	3	NM_198129	1	0	0	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																					0.627	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254824.3		NM_000227, NM_198129		T	21427621	C	T	21427621	2	4	129	1	0	0	0	0	0	0	0	1	8622	767	27	1		1	LAMA3	18	21427621	Silent	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10		21427621	56649627	41	9658											
FBXO15	201456	mdanderson.org	37	chr18	71793289	71793289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccaatcatggtagatatgGtcaaatgactcagattgtac	14	11	9	7	0	3	3	3	1	0	2	3	3	3	3	1	2	2	2	1	2	5	4			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr18:71793289G>T	ENST00000419743.2	-	6	912	c.833C>A	c.(832-834)aCc>aAc	p.T278N	FBXO15_ENST00000269500.5_Missense_Mutation_p.T202N	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	278						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGTAGATATGGTCAAATGACT	0.468																																					p.T278N													.	.			0			c.C833A												134	118	123					18																	71793289		2203	4300	6503	SO:0001583	missense	201456	exon6			GATATGGTCAAAT	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.833C>A	18.37:g.71793289G>T	ENSP00000393154:p.Thr278Asn		40	0	0		45	0.07	3	NM_001142958	3	0	0	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	1.552	-0.538911	0.04053	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46819	0.87;0.86	5.4	2.43	0.29744	.	0.614423	0.17106	N	0.186789	T	0.40171	0.1106	M	0.63428	1.95	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.38824	-0.9643	10	0.52906	T	0.07	-7.7572	4.2159	0.10535	0.077:0.1449:0.4975:0.2807	.	278;202	B3KST3;Q8NCQ5	.;FBX15_HUMAN	N	202;278	ENSP00000269500:T202N;ENSP00000393154:T278N	ENSP00000269500:T202N	T	-	2	0	FBXO15	69944269	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	0.310000	0.19356	0.267000	0.21916	0.650000	0.86243	ACC			0.468	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000444223.1		NM_152676		T	71793289	G	T	71793289	3	4	129	1	0	0	0	0	1	0	0	0	5741	1261	44	3	719	3	FBXO15	18	71793289	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	50365668	71793289	6283959	42	9659											
ZNF407	55628	broad.mit.edu	37	chr18	72775488	72775488	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcagctggctgatggAgccacccaggtggtcgtcgt	6	7	15	13	3	0	1	0	1	0	0	2	3	0	2	3	4	3	3	3	4	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr18:72775488A>G	ENST00000299687.5	+	8	5811	c.5811A>G	c.(5809-5811)ggA>ggG	p.G1937G		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1937					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)		TGGCTGATGGAGCCACCCAGG	0.642																																					p.G1937G													.	ZNF407	231		0			c.A5811G												9	12	11					18																	72775488		2125	4237	6362	SO:0001819	synonymous_variant	55628	exon8			TGATGGAGCCACC	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.5811A>G	18.37:g.72775488A>G			38	0.0263157895	1		13	0.23	3	NM_017757	17	0	0	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																					0.642	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444903.1		NM_017757		G	72775488	A	G	72775488	2	3	129	1	0	0	0	0	0	0	0	1	17910	291	11	4		4	ZNF407	18	72775488	Silent	SNP	A	TCGA-XY-A9T9-01A-11D-A435-10	982199	72775488	5301760	43	9660											
TCF3	6929	mdanderson.org	37	chr19	1615323	1615323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcaggatgaccgagacagCctggtgcaggatgagcagtt	10	8	15	8	1	1	3	1	2	0	1	1	6	1	5	2	3	3	4	2	3	0	2			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:1615323C>T	ENST00000262965.5	-	18	2127	c.1783G>A	c.(1783-1785)Gct>Act	p.A595T	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Missense_Mutation_p.A599T|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	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)		ACCGAGACAGCCTGGTGCAGG	0.637			T	"PBX1, HLF, TFPT"	pre B-ALL																																p.A595T				Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	.			0			c.G1783A												75	74	74					19																	1615323		2203	4300	6503	SO:0001583	missense	6929	exon18			AGACAGCCTGGTG	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.1783G>A	19.37:g.1615323C>T	ENSP00000262965:p.Ala595Thr		58	0	0		28	0.11	3	NM_003200	853	0	0	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936954	0.92458	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.99422	-5.88;-5.88	4.14	4.14	0.48551	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.97709	1.0189	10	0.87932	D	0	-27.0814	15.3807	0.74654	0.0:1.0:0.0:0.0	.	595;599;532	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	T	595;599	ENSP00000262965:A595T;ENSP00000378813:A599T	ENSP00000262965:A595T	A	-	1	0	TCF3	1566323	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.521000	0.81832	1.841000	0.53522	0.555000	0.69702	GCT			0.637	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000449367.1		NM_003200		T	1615323	C	T	1615323	3	4	129	1	0	0	0	0	1	0	0	0	15717	739	26	2	420	2	TCF3	19	1615323	Missense_Mutation	SNP	C	TCGA-XY-A9T9-01A-11D-A435-10		1615323	57513660	44	9661											
ZBTB7A	51341	mdanderson.org	37	chr19	4055177	4055177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcccactcaggatgtcGctgctgtggtcggggaacgg	6	9	15	11	3	2	0	2	0	0	0	4	2	2	2	1	5	3	2	1	5	1	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:4055177G>T	ENST00000322357.4	-	2	332	c.54C>A	c.(52-54)agC>agA	p.S18R	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.S18R	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	18					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGGATGTCGCTGCTGTGGT	0.706																																					p.S18R													.	.			0			c.C54A												19	21	20					19																	4055177		2199	4300	6499	SO:0001583	missense	51341	exon2			GATGTCGCTGCTG	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.54C>A	19.37:g.4055177G>T	ENSP00000323670:p.Ser18Arg		50	0	0		39	0.08	3	NM_015898	23	0	0	D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998807	0.54147	.	.	ENSG00000178951	ENST00000322357	T	0.72394	-0.65	4.49	1.11	0.20524	BTB/POZ fold (2);	0.140659	0.48767	U	0.000178	T	0.71736	0.3375	L	0.37507	1.11	0.40528	D	0.980909	D	0.89917	1.0	D	0.69479	0.964	T	0.69442	-0.5144	10	0.66056	D	0.02	.	7.3758	0.26827	0.3556:0.0:0.6444:0.0	.	18	O95365	ZBT7A_HUMAN	R	18	ENSP00000323670:S18R	ENSP00000323670:S18R	S	-	3	2	ZBTB7A	4006177	0.223000	0.23663	0.993000	0.49108	0.977000	0.68977	-0.474000	0.06607	0.034000	0.15491	0.462000	0.41574	AGC			0.706	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457621.2		NM_015898		T	4055177	G	T	4055177	3	4	129	1	0	0	0	0	1	0	0	0	17576	1078	38	1	1708	1	ZBTB7A	19	4055177	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	2439854	4055177	55073806	45	9662											
TICAM1	148022	mdanderson.org	37	chr19	4816391	4816391	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgagggggtgcgggtgAggccgtagggaaggctgggg	5	6	24	6	2	1	2	0	2	1	0	1	3	1	3	1	8	1	3	1	8	2	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:4816391A>G	ENST00000248244.5	-	2	2228	c.1999T>C	c.(1999-2001)Tca>Cca	p.S667P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	667	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGTGCGGGTGAGGCCGTAGGG	0.657																																					p.S667P													.	.			0			c.T1999C												54	49	50					19																	4816391		2203	4300	6503	SO:0001583	missense	148022	exon2			CGGGTGAGGCCGT	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1999T>C	19.37:g.4816391A>G	ENSP00000248244:p.Ser667Pro		43	0	0		39	0.08	3	NM_182919	25	0	0	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	A	8.347	0.830025	0.16749	.	.	ENSG00000127666	ENST00000248244	T	0.49139	0.79	3.92	-4.18	0.03846	.	.	.	.	.	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.16305	-1.0407	9	0.22706	T	0.39	-2.9462	1.8557	0.03178	0.2296:0.2783:0.3552:0.1369	.	667	Q8IUC6	TCAM1_HUMAN	P	667	ENSP00000248244:S667P	ENSP00000248244:S667P	S	-	1	0	TICAM1	4767391	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.310000	0.08135	-0.676000	0.05238	0.459000	0.35465	TCA			0.657	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450435.1		NM_014261		G	4816391	A	G	4816391	3	3	129	1	0	0	0	0	1	0	0	0	15915	304	11	4	143	4	TICAM1	19	4816391	Missense_Mutation	SNP	A	TCGA-XY-A9T9-01A-11D-A435-10	761214	4816391	54312592	46	9663											
ZNF440	126070	broad.mit.edu	37	chr19	11943326	11943329	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															cttcaaagtcatgaaaggacAcaaacacacataagaataca																										TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:11943326_11943329delACAA	ENST00000304060.5	+	4	1499_1502	c.1335_1338delACAA	c.(1333-1338)acacaafs	p.TQ445fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	445					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(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAAAGGACACAAACACACATAA	0.377																																					p.445_446del													.	ZNF440	56		0			c.1335_1338del																																									SO:0001589	frameshift_variant	126070	exon4			AAGGACACAAACA	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1335_1338delACAA	19.37:g.11943326_11943329delACAA	ENSP00000305373:p.Thr445fs		57	0	0		68	0.13	9	NM_152357	20	0	0	Q8N1R9	Frame_Shift_Del	DEL	ENST00000304060.5	37	CCDS42503.1																																																																																					0.377	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344508.1		NM_152357		-	11943329	ACAA	-	11943326	7	5	129	1	0	1	0	1	0	0	0	0	17936	146	6	0	1349	0	ZNF440	19	11943326	Frame_Shift_Del	DEL	ACAA	TCGA-XY-A9T9-01A-11D-A435-10	7126935	11943326	47185657	47	9664											
FAM32A	26017	broad.mit.edu	37	chr19	16296279	16296279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctacgagcaggtccaaaAgggacccctgaagctgaaag	13	4	13	11	1	0	2	0	2	0	0	1	4	1	3	4	3	3	2	4	3	5	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:16296279A>G	ENST00000263384.7	+	1	51	c.26A>G	c.(25-27)aAg>aGg	p.K9R	FAM32A_ENST00000588367.1_Missense_Mutation_p.K9R|CTD-2562J15.4_ENST00000591038.1_RNA|FAM32A_ENST00000589852.1_5'UTR	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	9	Lys-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			lung(1)	1						CAGGTCCAAAAGGGACCCCTG	0.597											OREG0025331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K9R													.	FAM32A	6		0			c.A26G												35	31	32					19																	16296279		2179	4272	6451	SO:0001583	missense	26017	exon1			TCCAAAAGGGACC	BC000639	CCDS12341.1	19p13.12-p13.11	2013-09-19			ENSG00000105058	ENSG00000105058			24563	protein-coding gene	gene with protein product		614554				11230166, 10810093	Standard	NM_014077		Approved	DKFZP586O0120	uc002ndt.3	Q9Y421	OTTHUMG00000182279	ENST00000263384.7:c.26A>G	19.37:g.16296279A>G	ENSP00000263384:p.Lys9Arg		151	0.0066225166	1	709	133	0.03	4	NM_014077	408	0	0	Q9BT02	Missense_Mutation	SNP	ENST00000263384.7	37	CCDS12341.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735976	0.30774	.	.	ENSG00000105058	ENST00000263384	.	.	.	3.41	-0.00507	0.14019	.	0.175899	0.46442	N	0.000296	T	0.39436	0.1078	L	0.37507	1.11	0.42328	D	0.992285	B	0.15719	0.014	B	0.17098	0.017	T	0.07712	-1.0758	9	0.24483	T	0.36	-15.6387	6.2518	0.20850	0.5224:0.0:0.4776:0.0	.	9	Q9Y421	FA32A_HUMAN	R	9	.	ENSP00000263384:K9R	K	+	2	0	FAM32A	16157279	1.000000	0.71417	0.786000	0.31890	0.955000	0.61496	1.205000	0.32308	0.061000	0.16311	0.456000	0.33151	AAG			0.597	FAM32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460346.1		NM_014077		G	16296279	A	G	16296279	3	3	129	1	0	0	0	0	1	0	0	0	5565	72	3	4	28	4	FAM32A	19	16296279	Missense_Mutation	SNP	A	TCGA-XY-A9T9-01A-11D-A435-10	4352953	16296279	42832704	48	9665											
TGFB1	80776	mdanderson.org	37	chr19	41858943	41858943	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcagccgcagcccggaggGcggcatgggggaggcggcgc	6	1	21	13	5	0	0	0	0	0	0	0	2	0	2	2	7	3	3	2	7	0	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:41858943G>T	ENST00000243578.3	-	0	1027				TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TGFB1_ENST00000221930.5_Missense_Mutation_p.P3T|TMEM91_ENST00000604123.1_5'Flank	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						agcCCGGAGGGCGGCATGGGG	0.751																																					p.P3T													.	.			0			c.C7A												2	2	2					19																	41858943		1686	3299	4985	SO:0001628	intergenic_variant	7040	exon1			CGGAGGGCGGCAT	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858943G>T			14	0	0		8	0.25	2	NM_000660	67	0	0		Missense_Mutation	SNP	ENST00000243578.3	37	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604220	0.46423	.	.	ENSG00000105329	ENST00000221930	T	0.28454	1.61	3.88	3.88	0.44766	.	1.140730	0.06783	N	0.785541	T	0.23727	0.0574	N	0.24115	0.695	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.09997	-1.0649	10	0.87932	D	0	.	9.439	0.38657	0.0:0.2176:0.7824:0.0	.	3	P01137	TGFB1_HUMAN	T	3	ENSP00000221930:P3T	ENSP00000221930:P3T	P	-	1	0	TGFB1	46550783	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.044000	0.41241	1.997000	0.58415	0.462000	0.41574	CCC			0.751	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463489.1		NM_030578		T	41858943	G	T	41858943	1	4	129	0	1	0	0	0	0	0	0	0	15839	1203	42	2		2	TGFB1	19	41858943	IGR	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	25562664	41858943	17270040	49	9666											
PTPRA	5786	mdanderson.org	37	chr20	3017924	3017924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctacagaggccacacatgGtccagacactggtatgctgc	10	7	12	12	0	0	2	0	0	0	2	1	2	1	2	2	4	3	3	2	4	2	2			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr20:3017924G>T	ENST00000216877.6	+	22	2696	c.2296G>T	c.(2296-2298)Gtc>Ttc	p.V766F	PTPRA_ENST00000425918.2_Missense_Mutation_p.V786F|PTPRA_ENST00000356147.3_Missense_Mutation_p.V766F|PTPRA_ENST00000358719.4_Missense_Mutation_p.V631F|PTPRA_ENST00000318266.5_Missense_Mutation_p.V766F|PTPRA_ENST00000399903.2_Missense_Mutation_p.V775F|PTPRA_ENST00000380393.3_Missense_Mutation_p.V775F	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	775	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCACACATGGTCCAGACACT	0.587																																					p.V775F													.	.			0			c.G2323T												103	95	98					20																	3017924		2203	4300	6503	SO:0001583	missense	5786	exon27			CACATGGTCCAGA		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2296G>T	20.37:g.3017924G>T	ENSP00000216877:p.Val766Phe		51	0	0		38	0.08	3	NM_002836	117	0	0	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443157	0.96187	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.91	5.91	0.95273	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	D	0.96207	0.8763	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.95447	0.8531	10	0.42905	T	0.14	.	20.3078	0.98634	0.0:0.0:1.0:0.0	.	786;775;766	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	F	775;766;775;631;385;786;766;766	ENSP00000369756:V775F;ENSP00000216877:V766F;ENSP00000382787:V775F;ENSP00000351559:V631F;ENSP00000393553:V786F;ENSP00000314568:V766F;ENSP00000348468:V766F	ENSP00000216877:V766F	V	+	1	0	PTPRA	2965924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.794000	0.96219	0.650000	0.86243	GTC			0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077682.3				T	3017924	G	T	3017924	3	4	129	1	0	0	0	0	1	0	0	0	12818	1261	44	3	2401	3	PTPRA	20	3017924	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		3017924	60007596	50	9667											
MYH7B	57644	hgsc.bcm.edu;mdanderson.org	37	chr20	33583281	33583281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctggccgcccgccggcGcaagctggaggacgagtgca	7	4	16	14	5	0	1	0	1	0	0	0	4	0	3	4	4	2	3	4	4	1	0			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr20:33583281G>A	ENST00000262873.7	+	26	3061	c.2969G>A	c.(2968-2970)cGc>cAc	p.R990H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	948						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)			GCCCGCCGGCGCAAGCTGGAG	0.592																																					p.R990H													.	.			0			c.G2969A												55	52	53					20																	33583281		2203	4300	6503	SO:0001583	missense	57644	exon28			GCCGGCGCAAGCT	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.2969G>A	20.37:g.33583281G>A	ENSP00000262873:p.Arg990His		83	0	0		72	0.06	4	NM_020884	2	0	0	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500059	0.96355	.	.	ENSG00000078814	ENST00000262873	D	0.86230	-2.09	5.35	5.35	0.76521	.	0.000000	0.36409	N	0.002602	D	0.94282	0.8163	M	0.93808	3.46	0.58432	D	0.999998	D	0.76494	0.999	P	0.56088	0.791	D	0.95345	0.8441	10	0.87932	D	0	.	19.3114	0.94188	0.0:0.0:1.0:0.0	.	948	A7E2Y1	MYH7B_HUMAN	H	990	ENSP00000262873:R990H	ENSP00000262873:R990H	R	+	2	0	MYH7B	33046942	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.652000	0.98499	2.808000	0.96608	0.650000	0.86243	CGC			0.592	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000078833.2		NM_020884		A	33583281	G	A	33583281	3	1	129	1	0	0	0	0	1	0	0	0	10056	1087	38	1	3071	1	MYH7B	20	33583281	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	30565357	33583281	29442239	51	9668											
PRIC285	85441	mdanderson.org	37	chr20	62198382	62198382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaacatgagcgggtagtGccgggggtggggcggaacct	8	5	20	8	3	0	2	0	1	0	1	0	3	0	3	2	6	4	2	2	6	3	1			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr20:62198382G>T	ENST00000467148.1	-	6	2398	c.2329C>A	c.(2329-2331)Cac>Aac	p.H777N	HELZ2_ENST00000427522.2_Missense_Mutation_p.H208N	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	777	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)										AGCGGGTAGTGCCGGGGGTGG	0.652																																					p.H777N													.	.			0			c.C2329A												57	54	55					20																	62198382		2202	4299	6501	SO:0001583	missense	85441	exon7			GGTAGTGCCGGGG	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.2329C>A	20.37:g.62198382G>T	ENSP00000417401:p.His777Asn		61	0	0		41	0.07	3	NM_001037335	93	0	0	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	1.312	-0.601836	0.03744	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.91996	-2.95;-2.95	5.32	3.23	0.37069	.	1.146510	0.06179	N	0.679155	D	0.87362	0.6158	L	0.42245	1.32	0.09310	N	1	B;B	0.22146	0.065;0.053	B;B	0.21917	0.037;0.022	T	0.72747	-0.4200	10	0.14252	T	0.57	-15.1698	6.2905	0.21057	0.1776:0.0:0.6172:0.2052	.	777;208	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	N	208;777	ENSP00000393257:H208N;ENSP00000417401:H777N	ENSP00000393257:H208N	H	-	1	0	RP4-697K14.7	61668826	0.000000	0.05858	0.009000	0.14445	0.032000	0.12392	0.159000	0.16442	1.261000	0.44149	0.561000	0.74099	CAC			0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354127.1		NM_001037335		T	62198382	G	T	62198382	3	4	129	1	0	0	0	0	1	0	0	0	12505	1319	46	2	5676	2	PRIC285	20	62198382	Missense_Mutation	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10	28615101	62198382	827138	52	9669											
RASL10A	10633	mdanderson.org	37	chr22	29709863	29709863	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctacctggtctccgcGatgcgctgccgcagggcctt	3	8	13	17	4	1	0	0	0	1	0	2	1	1	0	6	3	3	2	6	3	1	2	rs148807115		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr22:29709863G>T	ENST00000216101.6	-	2	842	c.333C>A	c.(331-333)atC>atA	p.I111I	RASL10A_ENST00000401450.3_Silent_p.I111I|AC002059.10_ENST00000608014.1_RNA|RASL10A_ENST00000608559.1_5'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	111	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TGGTCTCCGCGATGCGCTGCC	0.637																																					p.I111I													.	.			0			c.C333A												45	46	45					22																	29709863		2203	4300	6503	SO:0001819	synonymous_variant	10633	exon2			CTCCGCGATGCGC	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106	ENST00000216101.6:c.333C>A	22.37:g.29709863G>T			31	0	0		31	0.1	3	NM_006477	26	0	0	Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	CCDS13854.1																																																																																					0.637	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321342.1				T	29709863	G	T	29709863	2	4	129	1	0	0	0	0	0	0	0	1	13102	1048	37	1		1	RASL10A	22	29709863	Silent	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		29709863	21594703	53	9670											
DOCK11	139818	broad.mit.edu	37	chrX	117742320	117742320	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caataaacaaattgctaaagGtatgaacacaggacacaaca	21	6	6	8	0	0	1	0	1	0	0	0	2	0	2	0	2	4	2	0	2	9	4			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chrX:117742320G>T	ENST00000276202.7	+	26	2940		c.e26+1		DOCK11_ENST00000276204.6_Splice_Site	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						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						ATTGCTAAAGGTATGAACACA	0.398																																					.													.	DOCK11	185		0			c.2877+1G>T												58	60	60					X																	117742320		2203	4300	6503	SO:0001630	splice_region_variant	139818	exon26			CTAAAGGTATGAA	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.2877+1G>T	X.37:g.117742320G>T			141	0	0		183	0.03	5	NM_144658	0		0	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527734	0.44969	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3889	0.94570	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK11	117626348	1.000000	0.71417	0.997000	0.53966	0.175000	0.22909	9.206000	0.95056	2.618000	0.88619	0.600000	0.82982	.			0.398	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000356002.1		NM_144658	Intron	T	117742320	G	T	117742320	5	4	129	1	0	0	0	0	0	0	1	0	4691	1275	44	3	2980	3	DOCK11	23	117742320	Splice_Site	SNP	G	TCGA-XY-A9T9-01A-11D-A435-10		117742320	37528240	54	9671											
SSBP3	23648	broad.mit.edu	37	chr1	54871665	54871665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagggcaccgccgagcctTtgcctttggcaaacatggtt	7	9	12	13	3	0	0	0	0	0	0	0	2	0	0	5	3	3	3	5	3	1	3			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr1:54871665T>C	ENST00000371320.3	-	1	427	c.17A>G	c.(16-18)aAa>aGa	p.K6R	SSBP3_ENST00000371319.3_Missense_Mutation_p.K6R|SSBP3_ENST00000417664.2_5'Flank|SSBP3_ENST00000357475.4_Missense_Mutation_p.K6R	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	6					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CGCCGAGCCTTTGCCTTTGGC	0.736																																					p.K6R													.	SSBP3	65		0			c.A17G												4	5	5					1																	54871665		2079	4010	6089	SO:0001583	missense	23648	exon1			GAGCCTTTGCCTT		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.17A>G	1.37:g.54871665T>C	ENSP00000360371:p.Lys6Arg		96	0.0104166667	1		55	0.09	5	NM_001009955	83	0	0	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	CCDS591.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645914	0.47258	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.64	2.64	0.31445	.	0.000000	0.46758	U	0.000271	T	0.45155	0.1328	L	0.38838	1.175	0.35702	D	0.815734	B;B;B	0.18968	0.02;0.004;0.032	B;B;B	0.24006	0.018;0.012;0.05	T	0.52540	-0.8562	9	0.62326	D	0.03	.	8.2855	0.31926	0.0:0.0:0.0:1.0	.	6;6;6	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	R	6	.	ENSP00000350067:K6R	K	-	2	0	SSBP3	54644253	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.586000	0.53950	0.978000	0.38470	0.240000	0.17902	AAA			0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022721.1		NM_018070		C	54871665	T	C	54871665	3	2	130	1	0	0	0	0	1	0	0	0	15204	1841	64	4	1221	4	SSBP3	1	54871665	Missense_Mutation	SNP	T	TCGA-YU-A90P-01A-11D-A435-10		54871665	194378956	1	9672											
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcaaagagaaatgttttCtaactcaactggccggcttc	12	11	7	11	1	3	1	2	0	1	1	4	2	3	1	2	2	2	2	2	2	4	4	rs55936365		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		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)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V													NBPF10,NS,carcinoma,0,2	NBPF10	0	2	2	Substitution - Missense(2)	kidney(2)	c.C130G																																									SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	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.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val		50	0.04	2		65	0.06	4	NM_001039703	5	0	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT			0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding		OTTHUMT00000038550.3		NM_001039703		G	145293535	C	G	145293535	3	3	130	1	0	0	0	0	1	0	0	0	10209	912	32	5	132	5	NBPF10	1	145293535	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	90421870	145293535	103957086	2	9673											
TDRKH	11022	broad.mit.edu	37	chr1	151747281	151747281	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaggcatctgtttctgtgGcctgagtggatgaaaacagg	10	10	15	6	0	2	3	0	2	2	1	2	5	2	4	1	4	1	2	1	4	2	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr1:151747281G>T	ENST00000368822.1	-	12	2171	c.1538C>A	c.(1537-1539)gCc>gAc	p.A513D	TDRKH_ENST00000458431.2_Splice_Site_p.A513D|TDRKH_ENST00000368825.3_Splice_Site_p.A468D|TDRKH_ENST00000368824.3_Splice_Site_p.A513D|TDRKH_ENST00000368827.6_Splice_Site_p.A513D|TDRKH_ENST00000368823.1_Splice_Site_p.A509D|TDRKH_ENST00000440583.2_Splice_Site_p.A289D			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	513					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTTCTGTGGCCTGAGTGGA	0.463																																					p.A513D													.	TDRKH	45		0			c.C1538A												180	168	172					1																	151747281		1955	4154	6109	SO:0001630	splice_region_variant	11022	exon12			TCTGTGGCCTGAG	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1537-1C>A	1.37:g.151747281G>T			80	0	0		95	0.04	4	NM_001083965	52	0	0	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Splice_Site	SNP	ENST00000368822.1	37	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281011	0.59758	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.25414	2.16;1.81;2.16;2.16;2.16;2.16;1.8	6.16	5.25	0.73442	.	0.565317	0.19793	N	0.105934	T	0.12646	0.0307	N	0.22421	0.69	0.38416	D	0.946045	B;P;P	0.46706	0.31;0.857;0.883	B;P;B	0.48524	0.176;0.58;0.422	T	0.03112	-1.1071	10	0.19590	T	0.45	-8.6283	11.8458	0.52383	0.0815:0.0:0.9185:0.0	.	468;509;513	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	D	513;468;513;509;513;513;289	ENSP00000357819:A513D;ENSP00000357817:A468D;ENSP00000357815:A513D;ENSP00000357813:A509D;ENSP00000357812:A513D;ENSP00000395718:A513D;ENSP00000416645:A289D	ENSP00000357812:A513D	A	-	2	0	TDRKH	150013905	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	1.603000	0.36794	2.937000	0.99478	0.650000	0.86243	GCC			0.463	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000036648.2		NM_006862	Missense_Mutation	T	151747281	G	T	151747281	5	4	130	1	0	0	0	0	0	0	1	0	15760	1217	42	2	155	2	TDRKH	1	151747281	Splice_Site	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	6453746	151747281	97503340	3	9674											
PROX1	5629	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr1	214170542	214170542	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagcaacagagtttcCagcagctggtttcagcccga	11	7	11	12	1	1	1	1	0	0	1	2	2	2	1	2	1	7	7	2	1	1	2			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr1:214170542C>T	ENST00000366958.4	+	2	1272	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	PROX1_ENST00000498508.2_Nonsense_Mutation_p.Q222*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.Q222*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.Q222*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	222					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ACAGAGTTTCCAGCAGCTGGT	0.537																																					p.Q222X													.	.			0			c.C664T												34	39	37					1																	214170542		2203	4300	6503	SO:0001587	stop_gained	5629	exon2			AGTTTCCAGCAGC	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.664C>T	1.37:g.214170542C>T	ENSP00000355925:p.Gln222*		61	0	0		80	0.08	6	NM_001270616	2	0	0	A6NK29|A8K2B1|Q5SW76|Q8TB91	Nonsense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	43	9.992226	0.99313	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	.	.	.	6.07	6.07	0.98685	.	0.118769	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-4.393	20.2697	0.98465	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000261454:Q222X	Q	+	1	0	PROX1	212237165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.147000	0.71783	2.885000	0.99019	0.655000	0.94253	CAG			0.537	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000089727.6		NM_002763		T	214170542	C	T	214170542	4	4	130	1	0	0	0	0	0	1	0	0	12580	595	21	3	666	3	PROX1	1	214170542	Nonsense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	62423261	214170542	35080079	4	9675											
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	215847769	215847769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtgagagtaaaatcaCgatagcgtgtttccaagcct	11	10	12	8	2	1	1	1	1	0	1	2	3	2	1	2	2	2	2	2	2	4	3	rs550096037		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr1:215847769C>T	ENST00000307340.3	-	63	13870	c.13484G>A	c.(13483-13485)cGt>cAt	p.R4495H	USH2A_ENST00000366943.2_Missense_Mutation_p.R4495H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4495	Fibronectin type-III 30. {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)		AGTAAAATCACGATAGCGTGT	0.463										HNSCC(13;0.011)			T|||	1	0.000199681	0	0	5008	,	,		18421	0.001		0	False		,,,				2504	0				p.R4495H													.	.			0			c.G13484A												142	139	140					1																	215847769		2203	4300	6503	SO:0001583	missense	7399	exon63			AAATCACGATAGC	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.13484G>A	1.37:g.215847769C>T	ENSP00000305941:p.Arg4495His		112	0	0		112	0.2	22	NM_206933	0		0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.611154	0.00835	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56776	0.44;0.44	4.22	4.22	0.49857	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.188196	0.25698	N	0.028893	T	0.18173	0.0436	N	0.00566	-1.37	0.20489	N	0.999891	B	0.02656	0.0	B	0.01281	0.0	T	0.15292	-1.0442	10	0.35671	T	0.21	.	6.0096	0.19567	0.1536:0.0848:0.0:0.7616	.	4495	O75445	USH2A_HUMAN	H	4495	ENSP00000305941:R4495H;ENSP00000355910:R4495H	ENSP00000305941:R4495H	R	-	2	0	USH2A	213914392	0.996000	0.38824	0.135000	0.22099	0.243000	0.25628	2.701000	0.47094	0.595000	0.29777	-0.516000	0.04426	CGT			0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128138.1		NM_007123		T	215847769	C	T	215847769	3	4	130	1	0	0	0	0	1	0	0	0	17060	536	19	1	2164	1	USH2A	1	215847769	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	1677227	215847769	33402852	5	9676											
C2orf28	51374	broad.mit.edu	37	chr2	27438402	27438402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttccgtggctttactcaGctccagactctgtgagtaag	8	12	9	12	1	2	2	1	1	1	1	4	2	4	2	3	1	2	3	3	1	2	4			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr2:27438402G>T	ENST00000606999.1	+	4	412	c.354G>T	c.(352-354)caG>caT	p.Q118H	ATRAID_ENST00000380171.3_Missense_Mutation_p.Q173H|CAD_ENST00000264705.4_5'Flank|CAD_ENST00000403525.1_5'Flank|ATRAID_ENST00000405489.3_Missense_Mutation_p.Q60H	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	118					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											GCTTTACTCAGCTCCAGACTC	0.458																																					p.Q173H													.	.			0			c.G519T												102	97	99					2																	27438402		2203	4300	6503	SO:0001583	missense	51374	exon4			TACTCAGCTCCAG	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"apoptosis-related protein 3"		"chromosome 2 open reading frame 28"	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.354G>T	2.37:g.27438402G>T	ENSP00000476080:p.Gln118His		167	0	0		177	0.03	5	NM_080592	518	0	1	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37		.	.	.	.	.	.	.	.	.	.	G	19.57	3.852516	0.71719	.	.	ENSG00000138085	ENST00000380171;ENST00000405489;ENST00000419744	T;T	0.45668	1.57;0.89	5.58	5.58	0.84498	.	0.485095	0.24686	N	0.036423	T	0.62720	0.2451	M	0.69823	2.125	0.43304	D	0.9953	D;B	0.69078	0.997;0.001	D;B	0.68483	0.958;0.002	T	0.63097	-0.6713	10	0.52906	T	0.07	-24.1617	15.0792	0.72103	0.0:0.0:1.0:0.0	.	118;173	Q6UW56;Q6UW56-3	APR3_HUMAN;.	H	173;60;60	ENSP00000369518:Q173H;ENSP00000384033:Q60H	ENSP00000369518:Q173H	Q	+	3	2	C2orf28	27291906	0.998000	0.40836	1.000000	0.80357	0.888000	0.51559	1.338000	0.33873	2.630000	0.89119	0.650000	0.86243	CAG			0.458	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470709.1		NM_016085		T	27438402	G	T	27438402	3	4	130	1	0	0	0	0	1	0	0	0	2162	962	34	2	533	2	C2orf28	2	27438402	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		27438402	215760971	6	9677											
RGPD4	285190	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	108496563	108496563	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttatggagcaaattaaGgtgagatcagaaaacctggc	14	9	11	7	0	1	2	1	1	0	2	2	4	2	3	2	3	2	1	2	3	5	2			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr2:108496563G>C	ENST00000408999.3	+	21	5141	c.5064G>C	c.(5062-5064)aaG>aaC	p.K1688N	RGPD4_ENST00000354986.4_Splice_Site_p.K1688N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1688					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGCAAATTAAGGTGAGATCAG	0.453																																					p.K1688N													.	.			0			c.G5064C												204	166	178					2																	108496563		692	1591	2283	SO:0001630	splice_region_variant	285190	exon21			AATTAAGGTGAGA	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.5064+1G>C	2.37:g.108496563G>C			751	0	0		795	0.05	36	NM_182588	0		0	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	g	7.195	0.592337	0.13812	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.45276	0.91;0.9	0.854	0.854	0.19007	.	.	.	.	.	T	0.26159	0.0638	L	0.46157	1.445	0.34406	D	0.695863	P	0.37233	0.588	B	0.22601	0.04	T	0.41645	-0.9497	9	0.87932	D	0	-13.5722	4.5888	0.12297	0.2312:0.0:0.7688:0.0	.	1688	Q7Z3J3	RGPD4_HUMAN	N	1688;1688;1055	ENSP00000347081:K1688N;ENSP00000386810:K1688N	ENSP00000347081:K1688N	K	+	3	2	RGPD4	107862995	1.000000	0.71417	0.827000	0.32855	0.561000	0.35649	1.976000	0.40579	0.767000	0.33267	0.398000	0.26397	AAG			0.453	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330096.2		XM_496581	Missense_Mutation	C	108496563	G	C	108496563	5	2	130	1	0	0	0	0	0	0	1	0	13311	1014	35	5	5146	5	RGPD4	2	108496563	Splice_Site	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	81058161	108496563	134702810	7	9678											
SEC22C	9117	mdanderson.org	37	chr3	42594863	42594863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcccgtgcaggtacatGttgcccaggcaaataaagag	12	7	11	11	1	1	1	1	0	0	1	1	1	1	1	2	2	4	4	2	2	4	3			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr3:42594863G>T	ENST00000264454.3	-	7	932	c.789C>A	c.(787-789)aaC>aaA	p.N263K	SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000273156.7_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	263					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)		GCAGGTACATGTTGCCCAGGC	0.463																																					p.N263K													.	.			0			c.C789A												116	110	112					3																	42594863		2203	4300	6503	SO:0001583	missense	9117	exon7			GTACATGTTGCCC	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.789C>A	3.37:g.42594863G>T	ENSP00000264454:p.Asn263Lys		59	0	0		55	0.05	3	NM_032970	34	0	0	O95152|Q68CX3|Q6UW18	Missense_Mutation	SNP	ENST00000264454.3	37	CCDS2700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.354489|3.354489	0.61293|0.61293	.|.	.|.	ENSG00000093183|ENSG00000093183	ENST00000451653|ENST00000264454	.|T	.|0.19250	.|2.16	4.25|4.25	1.97|1.97	0.26223|0.26223	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40694|0.40694	0.1127|0.1127	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.14090|0.14090	-1.0485|-1.0485	5|10	.|0.66056	.|D	.|0.02	-16.032|-16.032	8.8708|8.8708	0.35314|0.35314	0.3017:0.0:0.6983:0.0|0.3017:0.0:0.6983:0.0	.|.	.|263	.|Q9BRL7	.|SC22C_HUMAN	N|K	185|263	.|ENSP00000264454:N263K	.|ENSP00000264454:N263K	H|N	-|-	1|3	0|2	SEC22C|SEC22C	42569867|42569867	0.991000|0.991000	0.36638|0.36638	0.499000|0.499000	0.27577|0.27577	0.995000|0.995000	0.86356|0.86356	2.074000|2.074000	0.41529|0.41529	0.328000|0.328000	0.23435|0.23435	0.591000|0.591000	0.81541|0.81541	CAT|AAC			0.463	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254734.1		NM_004206		T	42594863	G	T	42594863	3	4	130	1	0	0	0	0	1	0	0	0	14013	1368	48	3	172	3	SEC22C	3	42594863	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		42594863	155427567	8	9679											
ATRIP	84126	mdanderson.org	37	chr3	48505443	48505443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcgctgtccttttcagaagGctgcctcctgctgctgctgt	3	14	11	13	1	1	1	1	0	0	1	3	1	3	1	3	1	5	5	3	1	1	2			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr3:48505443G>T	ENST00000320211.3	+	10	1999	c.1886G>T	c.(1885-1887)gGc>gTc	p.G629V	TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000444177.1_5'Flank|ATRIP_ENST00000412052.1_Missense_Mutation_p.G536V|ATRIP_ENST00000357105.6_Missense_Mutation_p.G502V|TREX1_ENST00000436480.2_5'Flank|ATRIP_ENST00000346691.4_Missense_Mutation_p.G629V|TREX1_ENST00000296443.9_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	629					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTTCAGAAGGCTGCCTCCTG	0.542								Other conserved DNA damage response genes																													p.G629V													.	.			0			c.G1886T												104	106	105					3																	48505443		2203	4300	6503	SO:0001583	missense	84126	exon10			CAGAAGGCTGCCT	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1886G>T	3.37:g.48505443G>T	ENSP00000323099:p.Gly629Val		39	0	0		36	0.08	3	NM_130384	40	0	0	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.844005	0.32606	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.65364	1.53;-0.15;0.95;1.53	5.67	3.83	0.44106	.	0.340057	0.33253	N	0.005109	T	0.69468	0.3114	L	0.57536	1.79	0.45822	D	0.998696	D;P	0.69078	0.997;0.585	P;B	0.60949	0.881;0.319	T	0.67225	-0.5724	10	0.41790	T	0.15	-7.3287	9.7795	0.40640	0.0875:0.2191:0.6934:0.0	.	629;629	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	V	629;629;502;536	ENSP00000323099:G629V;ENSP00000302338:G629V;ENSP00000349620:G502V;ENSP00000400930:G536V	ENSP00000323099:G629V	G	+	2	0	ATRIP	48480447	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	1.266000	0.33039	0.765000	0.33221	-0.797000	0.03246	GGC			0.542	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257507.2		NM_130384		T	48505443	G	T	48505443	3	4	130	1	0	0	0	0	1	0	0	0	1205	1203	42	2	1924	2	ATRIP	3	48505443	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	5910580	48505443	149516987	9	9680											
C3orf71	646450	mdanderson.org	37	chr3	48955837	48955837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaagtcggagaactgcgCggcgaacgaggcctcggcag	9	4	16	12	7	0	1	0	0	0	1	2	4	0	1	2	4	3	2	2	4	3	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr3:48955837C>T	ENST00000408959.2	-	1	981	c.746G>A	c.(745-747)cGc>cAc	p.R249H	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	249						integral component of membrane (GO:0016021)											GAGAACTGCGCGGCGAACGAG	0.582																																					p.R249H													.	.			0			c.G746A												80	78	78					3																	48955837		1568	3582	5150	SO:0001583	missense	646450	exon1			ACTGCGCGGCGAA	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.746G>A	3.37:g.48955837C>T	ENSP00000386193:p.Arg249His		51	0	0		46	0.07	3	NM_001123040	4	0	0		Missense_Mutation	SNP	ENST00000408959.2	37	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	C	9.795	1.178900	0.21787	.	.	ENSG00000221883	ENST00000408959	.	.	.	2.79	-2.44	0.06502	.	.	.	.	.	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.19224	-1.0312	8	0.87932	D	0	.	4.1655	0.10305	0.0:0.3094:0.1882:0.5023	.	249	Q8N7S6	CC071_HUMAN	H	249	.	ENSP00000386193:R249H	R	-	2	0	C3orf71	48930841	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.091000	0.11146	-0.696000	0.05098	-0.258000	0.10820	CGC			0.582	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000345247.1		NM_001123040		T	48955837	C	T	48955837	3	4	130	1	0	0	0	0	1	0	0	0	2245	768	27	1	130	1	C3orf71	3	48955837	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	450394	48955837	149066593	10	9681											
CDHR4	389118	mdanderson.org	37	chr3	49829387	49829387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtgcttgcagcagctggGccaacctaaaatgccaggag	10	7	14	10	0	0	0	0	0	0	0	0	1	0	1	3	3	6	4	3	3	3	2			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr3:49829387G>T	ENST00000412678.2	-	16	2152	c.2144C>A	c.(2143-2145)gCc>gAc	p.A715D	CDHR4_ENST00000462108.1_5'UTR	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	715					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CAGCAGCTGGGCCAACCTAAA	0.517																																					p.A715D													.	.			0			c.C2144A												96	94	95					3																	49829387		692	1591	2283	SO:0001583	missense	389118	exon16			AGCTGGGCCAACC		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"Cadherins / Cadherin-related"	34527	protein-coding gene	gene with protein product			"cadherin-like 29"	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.2144C>A	3.37:g.49829387G>T	ENSP00000391409:p.Ala715Asp		50	0	0		50	0.06	3	NM_001007540	0		0	Q6UXT0	Missense_Mutation	SNP	ENST00000412678.2	37	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695163	0.48202	.	.	ENSG00000187492	ENST00000412678	T	0.57752	0.38	5.06	1.28	0.21552	.	.	.	.	.	T	0.41949	0.1181	L	0.44542	1.39	0.09310	N	0.999999	P	0.44877	0.845	B	0.41860	0.368	T	0.17715	-1.0360	9	0.30854	T	0.27	.	7.2818	0.26316	0.3572:0.0:0.6428:0.0	.	715	A6H8M9	CDHR4_HUMAN	D	715	ENSP00000391409:A715D	ENSP00000391409:A715D	A	-	2	0	CDHR4	49804391	0.803000	0.28956	0.068000	0.19968	0.825000	0.46686	0.898000	0.28404	0.122000	0.18314	0.650000	0.86243	GCC			0.517	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350387.1		NM_001007540		T	49829387	G	T	49829387	3	4	130	1	0	0	0	0	1	0	0	0	3123	1203	42	2	238	2	CDHR4	3	49829387	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	873550	49829387	148193043	11	9682											
C3orf72	401089	mdanderson.org	37	chr3	138666289	138666289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgaggaaaggcgctccaagCctcctcgcggctttcaggtg	7	7	14	13	4	1	0	1	0	0	0	4	2	3	1	3	4	1	2	3	4	2	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr3:138666289C>T	ENST00000383165.3	+	1	214	c.83C>T	c.(82-84)gCc>gTc	p.A28V	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		28										large_intestine(1)|lung(3)	4						GCGCTCCAAGCCTCCTCGCGG	0.657																																					p.A28V													.	.			0			c.C83T												5	7	6					3																	138666289		1672	3781	5453	SO:0001583	missense	401089	exon1			TCCAAGCCTCCTC																												ENST00000383165.3:c.83C>T	3.37:g.138666289C>T	ENSP00000372651:p.Ala28Val		55	0	0		43	0.09	4	NM_001040061	0		0	A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412941	0.42817	.	.	ENSG00000206262	ENST00000383165	.	.	.	3.65	2.75	0.32379	.	.	.	.	.	T	0.32852	0.0843	N	0.14661	0.345	0.23991	N	0.996242	D	0.60160	0.987	P	0.57283	0.817	T	0.09422	-1.0675	8	0.37606	T	0.19	.	8.0088	0.30340	0.0:0.876:0.0:0.124	.	28	Q6ZUU3	CC072_HUMAN	V	28	.	ENSP00000372651:A28V	A	+	2	0	C3orf72	140148979	0.913000	0.31002	0.999000	0.59377	0.985000	0.73830	1.653000	0.37323	0.784000	0.33661	0.561000	0.74099	GCC			0.657	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357986.1				T	138666289	C	T	138666289	3	4	130	1	0	0	0	0	1	0	0	0	2246	739	26	2	85	2	C3orf72	3	138666289	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	88836902	138666289	59356141	12	9683											
RBP1	5947	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	139257745	139257745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatggtcaccgtcctgcaCgatctctttgtctggcttca	6	14	8	13	2	4	0	2	0	2	0	6	1	5	0	2	2	1	2	2	2	1	3			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr3:139257745C>G	ENST00000483943.2	-	2	316	c.316G>C	c.(316-318)Gtg>Ctg	p.V106L	RBP1_ENST00000232219.2_Missense_Mutation_p.V106L|RBP1_ENST00000492918.1_Missense_Mutation_p.V106L|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	44					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CCGTCCTGCACGATCTCTTTG	0.537																																					p.V106L													.	.			0			c.G316C												221	183	196					3																	139257745		2203	4300	6503	SO:0001583	missense	5947	exon2			CCTGCACGATCTC		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.316G>C	3.37:g.139257745C>G	ENSP00000424813:p.Val106Leu		134	0	0		120	0.07	8	NM_002899	172	0.09	15	A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937842	0.34189	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.08102	3.13;3.13;3.13	5.15	2.29	0.28610	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.284177	0.28209	N	0.016189	T	0.06325	0.0163	L	0.35341	1.055	0.30104	N	0.807205	B;B;B	0.19583	0.037;0.008;0.0	B;B;B	0.22386	0.039;0.02;0.001	T	0.18493	-1.0335	10	0.31617	T	0.26	.	7.0319	0.24972	0.0:0.3629:0.4846:0.1524	.	106;106;44	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	L	106	ENSP00000232219:V106L;ENSP00000424813:V106L;ENSP00000429166:V106L	ENSP00000232219:V106L	V	-	1	0	RBP1	140740435	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	0.420000	0.21263	0.523000	0.28482	-0.519000	0.04390	GTG			0.537	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000341497.2		NM_002899		G	139257745	C	G	139257745	3	3	130	1	0	0	0	0	1	0	0	0	13178	536	19	5	357	5	RBP1	3	139257745	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	591456	139257745	58764685	13	9684											
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	30725116	30725116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctattgaaaatgacaCggggaccatttactccacaa	13	13	6	9	1	1	2	0	2	1	0	2	3	2	3	2	2	1	0	2	2	5	6			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr4:30725116C>T	ENST00000361762.2	+	1	3080	c.2072C>T	c.(2071-2073)aCg>aTg	p.T691M	PCDH7_ENST00000543491.1_Missense_Mutation_p.T691M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	691	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAAATGACACGGGGACCATT	0.488																																					p.T691M													.	.			0			c.C2072T												118	118	118					4																	30725116		2203	4300	6503	SO:0001583	missense	5099	exon1			ATGACACGGGGAC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2072C>T	4.37:g.30725116C>T	ENSP00000355243:p.Thr691Met		80	0	0		57	0.26	15	NM_032457	1	0	0	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431137	0.62844	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.58060	0.36;0.36	5.25	5.25	0.73442	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.80706	0.4674	M	0.93808	3.46	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	D	0.85549	0.1220	9	0.87932	D	0	.	19.0454	0.93018	0.0:1.0:0.0:0.0	.	691;644;691	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	M	691;691;644	ENSP00000355243:T691M;ENSP00000441802:T691M	ENSP00000330302:T644M	T	+	2	0	PCDH7	30334214	1.000000	0.71417	0.969000	0.41365	0.982000	0.71751	7.647000	0.83462	2.722000	0.93159	0.655000	0.94253	ACG			0.488	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000360366.1		NM_032457, NM_002589		T	30725116	C	T	30725116	3	4	130	1	0	0	0	0	1	0	0	0	11533	536	19	1	2074	1	PCDH7	4	30725116	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10		30725116	160429160	14	9685											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	12	4	9	16	1	2	0	2	0	0	0	4	0	3	0	2	0	8	8	2	0	0	0	rs376418550	byFrequency	TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																					p.Q460H													BMP2K_ENST00000502871,NS,carcinoma,0,7	BMP2K	169	7	3	Substitution - Missense(3)	endometrium(2)|prostate(1)	c.G1380C												40	45	44					4																	79792085		2203	4300	6503	SO:0001583	missense	55589	exon11			TCACCAGCAGCAG	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His		54	0	0		76	0.04	3	NM_017593	48	0	0	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG			0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_017593		C	79792085	G	C	79792085	3	2	130	1	0	0	0	0	1	0	0	0	1460	962	34	5	1422	5	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	49066969	79792085	111362191	15	9686											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	CAC	CAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																					p.439_439del													.	NKD2	39		0			c.1315_1317del																																									SO:0001651	inframe_deletion	85409	exon10			CACGAGCACCACC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del		8	0	0		6	0.33	2	NM_033120	8	0	0	Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	CCDS3859.1																																																																																					0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000206720.2		NM_033120		-	1038449	CAC	-	1038447	7	5	130	1	0	1	0	1	0	0	0	0	10459	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-YU-A90P-01A-11D-A435-10		1038447	179876813	16	9687											
FST	10468	mdanderson.org	37	chr5	52781043	52781043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctactggaagtaaagcactCcggatcttgcaactgtaagt	12	10	10	9	1	1	0	0	0	1	0	2	2	2	2	1	2	4	5	1	2	6	4			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr5:52781043C>A	ENST00000256759.3	+	5	1321	c.938C>A	c.(937-939)tCc>tAc	p.S313Y	FST_ENST00000396947.3_Missense_Mutation_p.S313Y	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	313	Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GTAAAGCACTCCGGATCTTGC	0.507																																					p.S313Y													.	.			0			c.C938A												99	89	92					5																	52781043		2203	4300	6503	SO:0001583	missense	10468	exon5			AGCACTCCGGATC	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.938C>A	5.37:g.52781043C>A	ENSP00000256759:p.Ser313Tyr		45	0	0		31	0.1	3	NM_006350	1	0	0	B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	CCDS3959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.45|11.45	1.643640|1.643640	0.29246|0.29246	.|.	.|.	ENSG00000134363|ENSG00000134363	ENST00000497789|ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	.|T;T;T	.|0.04406	.|3.63;3.63;3.63	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Proteinase inhibitor I1, Kazal (2);	.|0.224055	.|0.47852	.|D	.|0.000205	T|T	0.13798|0.13798	0.0334|0.0334	L|L	0.58510|0.58510	1.815|1.815	0.50813|0.50813	D|D	0.999891|0.999891	.|D	.|0.53619	.|0.961	.|P	.|0.54706	.|0.759	T|T	0.00028|0.00028	-1.2300|-1.2300	5|10	.|0.72032	.|D	.|0.01	-19.1045|-19.1045	15.1729|15.1729	0.72888|0.72888	0.0:0.8595:0.1405:0.0|0.0:0.8595:0.1405:0.0	.|.	.|313	.|P19883	.|FST_HUMAN	T|Y	98|313;313;313;184	.|ENSP00000256759:S313Y;ENSP00000380151:S313Y;ENSP00000426315:S184Y	.|ENSP00000256759:S313Y	P|S	+|+	1|2	0|0	FST|FST	52816800|52816800	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.956000|3.956000	0.56722|0.56722	2.725000|2.725000	0.93324|0.93324	0.655000|0.655000	0.94253|0.94253	CCG|TCC			0.507	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253906.1		NM_013409		A	52781043	C	A	52781043	3	1	130	1	0	0	0	0	1	0	0	0	6089	855	30	3	956	3	FST	5	52781043	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	51742596	52781043	128134217	17	9688											
TRIM23	373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	64906830	64906830	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgagccatatctaaaattGatgctcggatctgattagct	12	13	9	7	1	2	3	0	3	2	0	3	4	2	4	1	1	3	2	1	1	4	4			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr5:64906830G>C	ENST00000231524.9	-	5	1057	c.686C>G	c.(685-687)tCa>tGa	p.S229*	TRIM23_ENST00000508808.1_5'Flank|TRIM23_ENST00000274327.7_Nonsense_Mutation_p.S229*|TRIM23_ENST00000381018.3_Nonsense_Mutation_p.S229*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	229					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S229L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATCTAAAATTGATGCTCGGAT	0.343																																					p.S229X													TRIM23,bladder,carcinoma,0,1	TRIM23	0	1	1	Substitution - Missense(1)	urinary_tract(1)	c.C686G												98	95	96					5																	64906830		2203	4300	6503	SO:0001587	stop_gained	373	exon5			AAAATTGATGCTC	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.686C>G	5.37:g.64906830G>C	ENSP00000231524:p.Ser229*		93	0	0		73	0.21	15	NM_033228	19	0.26	5	Q9BZY4|Q9BZY5	Nonsense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601784	0.96614	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5302	0.95226	0.0:0.0:1.0:0.0	.	.	.	.	X	229	.	ENSP00000231524:S229X	S	-	2	0	TRIM23	64942586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.397000	0.97276	2.633000	0.89246	0.591000	0.81541	TCA			0.343	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215058.2		NM_001656		C	64906830	G	C	64906830	4	2	130	1	0	0	0	0	0	1	0	0	16521	1294	45	5	1133	5	TRIM23	5	64906830	Nonsense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	12125787	64906830	116008430	18	9689											
SLC26A2	1836	mdanderson.org	37	chr5	149361140	149361140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattcaatttttagatacaGcagggatccacacactgaaa	16	10	6	9	0	1	2	1	1	0	1	2	3	2	3	1	1	2	1	1	1	5	5			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr5:149361140G>T	ENST00000286298.4	+	3	2252	c.1984G>T	c.(1984-1986)Gca>Tca	p.A662S		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	662	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTAGATACAGCAGGGATCCA	0.458																																					p.A662S													.	.			0			c.G1984T												81	81	81					5																	149361140		2203	4300	6503	SO:0001583	missense	1836	exon3			GATACAGCAGGGA	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1984G>T	5.37:g.149361140G>T	ENSP00000286298:p.Ala662Ser		54	0	0		40	0.08	3	NM_000112	5	0	0	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691963	0.68271	.	.	ENSG00000155850	ENST00000286298	D	0.85773	-2.03	5.89	5.89	0.94794	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.047834	0.85682	D	0.000000	D	0.86138	0.5861	L	0.58354	1.805	0.49582	D	0.999805	P	0.51240	0.943	P	0.55391	0.775	T	0.81814	-0.0760	10	0.05525	T	0.97	.	13.4486	0.61155	0.0715:0.0:0.9285:0.0	.	662	P50443	S26A2_HUMAN	S	662	ENSP00000286298:A662S	ENSP00000286298:A662S	A	+	1	0	SLC26A2	149341333	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.840000	0.86819	2.795000	0.96236	0.655000	0.94253	GCA			0.458	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252333.2		NM_000112		T	149361140	G	T	149361140	3	4	130	1	0	0	0	0	1	0	0	0	14540	971	34	2	1990	2	SLC26A2	5	149361140	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	84454310	149361140	31554120	19	9690											
LCP2	3937	mdanderson.org	37	chr5	169683547	169683547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgagagaagtatggtGgcagggaggcactctgtgga	11	8	16	6	0	1	2	0	1	1	1	1	5	1	4	1	5	1	3	1	5	3	2			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr5:169683547G>T	ENST00000046794.5	-	17	1748	c.1133C>A	c.(1132-1134)cCa>cAa	p.P378Q	LCP2_ENST00000521416.1_Missense_Mutation_p.P173Q	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	378					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GAAGTATGGTGGCAGGGAGGC	0.488																																					p.P378Q													.	.			0			c.C1133A												97	103	101					5																	169683547		1919	4134	6053	SO:0001583	missense	3937	exon17			TATGGTGGCAGGG		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1133C>A	5.37:g.169683547G>T	ENSP00000046794:p.Pro378Gln		67	0	0		51	0.06	3	NM_005565	102	0.01	1	A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526552	0.44969	.	.	ENSG00000043462	ENST00000046794;ENST00000521416	T;T	0.59224	0.42;0.28	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	M	0.63843	1.955	0.42892	D	0.994202	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.969	T	0.72750	-0.4199	9	.	.	.	-11.7225	15.1391	0.72595	0.0:0.0:1.0:0.0	.	173;378	E7ESF6;Q13094	.;LCP2_HUMAN	Q	378;173	ENSP00000046794:P378Q;ENSP00000428871:P173Q	.	P	-	2	0	LCP2	169616125	1.000000	0.71417	0.952000	0.39060	0.381000	0.30169	4.096000	0.57734	2.337000	0.79520	0.557000	0.71058	CCA			0.488	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371727.1		NM_005565		T	169683547	G	T	169683547	3	4	130	1	0	0	0	0	1	0	0	0	8707	1348	47	3	488	3	LCP2	5	169683547	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	20322407	169683547	11231713	20	9691											
MSH5	4439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	31725947	31725947	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttctctcacagactgtGtacagtgccctgggcctgag	6	12	12	11	0	2	2	1	1	1	1	3	2	2	2	2	1	2	2	2	1	1	2			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr6:31725947G>C	ENST00000375755.3	+	13	1306	c.1020G>C	c.(1018-1020)gtG>gtC	p.V340V	RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000395853.1_Silent_p.V14V|MSH5_ENST00000375703.3_Silent_p.V340V|MSH5_ENST00000431848.2_Silent_p.V39V|MSH5_ENST00000375750.3_Silent_p.V340V|MSH5_ENST00000534153.4_Silent_p.V357V|MSH5-SAPCD1_ENST00000493662.2_Silent_p.V357V|MSH5_ENST00000375742.3_Silent_p.V357V|MSH5_ENST00000375740.3_Silent_p.V357V	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	340					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CACAGACTGTGTACAGTGCCC	0.552								Direct reversal of damage;Mismatch excision repair (MMR)																													p.V357V													.	.			0			c.G1071C												87	81	83					6																	31725947		1509	2708	4217	SO:0001819	synonymous_variant	4439	exon13			GACTGTGTACAGT	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1020G>C	6.37:g.31725947G>C			74	0	0		70	0.34	24	NM_025259	18	0.33	6	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	CCDS4720.1																																																																																					0.552	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000076243.4				C	31725947	G	C	31725947	2	2	130	1	0	0	0	0	0	0	0	1	9889	1364	48	5		5	MSH5	6	31725947	Silent	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		31725947	139389120	21	9692											
C6orf174	387104	mdanderson.org	37	chr6	127796804	127796804	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagtgggcgtgaggcagcgGatgttgcgcacctcctccga	6	7	16	12	5	0	1	0	1	0	0	2	4	2	2	3	3	2	3	3	3	0	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr6:127796804G>T	ENST00000525778.1	-	6	3112	c.2367C>A	c.(2365-2367)atC>atA	p.I789I	SOGA3_ENST00000368268.2_Silent_p.I789I|SOGA3_ENST00000556132.1_Silent_p.I789I|SOGA3_ENST00000481848.2_Silent_p.I789I|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Silent_p.I789I			Q5TF21	SOGA3_HUMAN	SOGA family member 3	789					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGAGGCAGCGGATGTTGCGCA	0.701																																					p.I789I													.	.			0			c.C2367A												21	27	25					6																	127796804		2125	4231	6356	SO:0001819	synonymous_variant	387104	exon6			GCAGCGGATGTTG	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.2367C>A	6.37:g.127796804G>T			14	0	0		9	0.22	2	NM_001012279	0		0		Silent	SNP	ENST00000525778.1	37	CCDS43505.1																																																																																					0.701	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388246.1		NM_001012279		T	127796804	G	T	127796804	2	4	130	1	0	0	0	0	0	0	0	1	2347	1164	41	3		3	C6orf174	6	127796804	Silent	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	96070857	127796804	43318263	22	9693											
TBP	6908	hgsc.bcm.edu	37	chr6	170871004	170871004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcaacaaaggcagcagcaGcaacaacaacagcagcagca	19	0	10	12	0	0	0	0	0	0	0	0	1	0	0	0	1	11	8	0	1	5	0			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000230354.6_Silent_p.Q60Q|TBP_ENST00000540980.1_Silent_p.Q40Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																					p.Q60Q													.	.			0			c.G180A												43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAACAA	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	6.37:g.170871004G>A			74	0	0		49	0.14	7	NM_003194	61	0	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																					0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000043271.2		NM_003194		A	170871004	G	A	170871004	2	1	130	1	0	0	0	0	0	0	0	1	15667	962	34	2		2	TBP	6	170871004	Silent	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	43074200	170871004	244063	23	9694											
TRA2A	29896	broad.mit.edu	37	chr7	23545402	23545403	+	Frame_Shift_Del	DEL	TC	TC	-																															gatcttgatcgtgatctataTcgactataataaggagaagg																										TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr7:23545402_23545403delTC	ENST00000297071.4	-	7	1016_1017	c.800_801delGA	c.(799-801)cgafs	p.R267fs	TRA2A_ENST00000538367.1_Frame_Shift_Del_p.R166fs|TRA2A_ENST00000392502.4_Frame_Shift_Del_p.R165fs|TRA2A_ENST00000474586.1_5'Flank	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	267	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GTGATCTATATCGACTATAATA	0.332																																					p.267_267del	Pancreas(121;2137 2973 46590)												.	TRA2A	29		0			c.800_801del																																									SO:0001589	frameshift_variant	29896	exon7			TCTATATCGACTA	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.800_801delGA	7.37:g.23545402_23545403delTC	ENSP00000297071:p.Arg267fs		166	0	0		155	0.06	9	NM_013293	447	0.08	37	B4DUA9	Frame_Shift_Del	DEL	ENST00000297071.4	37	CCDS5383.1																																																																																					0.332	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250257.1		NM_013293		-	23545403	TC	-	23545402	7	5	130	1	0	1	0	1	0	0	0	0	16457	1422	50	0	55	0	TRA2A	7	23545402	Frame_Shift_Del	DEL	TC	TCGA-YU-A90P-01A-11D-A435-10		23545402	135593261	24	9695											
NOM1	64434	mdanderson.org	37	chr7	156756636	156756636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactcgcccggaagcagaGgatgaacacagacatccgga	15	3	12	11	3	0	4	0	1	0	3	2	7	1	7	2	3	3	1	2	3	3	0	rs369881632		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr7:156756636G>T	ENST00000275820.3	+	7	1964	c.1949G>T	c.(1948-1950)aGg>aTg	p.R650M		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	650						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGGAAGCAGAGGATGAACACA	0.448																																					p.R650M													.	.			0			c.G1949T												82	78	79					7																	156756636		2203	4300	6503	SO:0001583	missense	64434	exon7			AGCAGAGGATGAA	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1949G>T	7.37:g.156756636G>T	ENSP00000275820:p.Arg650Met		59	0	0		56	0.05	3	NM_138400	68	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105032	0.77096	.	.	ENSG00000146909	ENST00000275820	T	0.18657	2.2	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.70806	-0.4772	10	0.72032	D	0.01	-26.9365	17.3571	0.87340	0.0:0.0:1.0:0.0	.	650	Q5C9Z4	NOM1_HUMAN	M	650	ENSP00000275820:R650M	ENSP00000275820:R650M	R	+	2	0	NOM1	156449397	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	9.400000	0.97290	2.167000	0.68274	0.297000	0.19635	AGG			0.448	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327098.1		NM_138400		T	156756636	G	T	156756636	3	4	130	1	0	0	0	0	1	0	0	0	10547	1000	35	3	1975	3	NOM1	7	156756636	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	133211234	156756636	2382027	25	9696											
GLI4	2738	mdanderson.org	37	chr8	144351632	144351632	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcagtctctcatcaccAgggacacctggaacccagca	10	7	8	16	0	4	0	3	0	1	0	5	2	4	2	4	2	2	1	4	2	1	0	rs6558341	byFrequency	TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr8:144351632A>T	ENST00000523522.1	+	1	105	c.66A>T	c.(64-66)ccA>ccT	p.P22P	GLI4_ENST00000344692.3_Silent_p.P22P|GLI4_ENST00000521682.1_Silent_p.P22P|ZFP41_ENST00000522452.1_Intron|GLI4_ENST00000517468.1_Silent_p.P22P|GLI4_ENST00000340042.1_Silent_p.P22P			P10075	GLI4_HUMAN	GLI family zinc finger 4	22					regulation of transcription, DNA-templated (GO:0006355)	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(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TCTCATCACCAGGGACACCTG	0.622																																					p.P22P													.	.			0			c.A66T												188	181	183					8																	144351632		2203	4300	6503	SO:0001819	synonymous_variant	2738	exon2			ATCACCAGGGACA		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"Zinc fingers, C2H2-type"	4320	protein-coding gene	gene with protein product		165280	"GLI-Kruppel family member GLI4", "glioma-associated oncogene family zinc finger 4"			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.66A>T	8.37:g.144351632A>T			76	0	0		81	0.02	2	NM_138465	49	0	0	Q96CK9	Silent	SNP	ENST00000523522.1	37	CCDS6398.1																																																																																					0.622	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381128.2				T	144351632	A	T	144351632	2	4	130	1	0	0	0	0	0	0	0	1	6454	175	7	5		5	GLI4	8	144351632	Silent	SNP	A	TCGA-YU-A90P-01A-11D-A435-10		144351632	2012390	26	9697											
VCP	7415	mdanderson.org	37	chr9	35059088	35059088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggtttgtctgcctctcTcgttctcgcctaatctcact	4	16	8	13	2	4	0	1	0	4	0	8	1	4	0	2	1	1	2	2	1	1	3			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr9:35059088T>C	ENST00000358901.6	-	15	3028	c.2133A>G	c.(2131-2133)cgA>cgG	p.R711R		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	711					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)			TCTGCCTCTCTCGTTCTCGCC	0.552																																					p.R711R													.	.			0			c.A2133G												157	128	138					9																	35059088		2203	4300	6503	SO:0001819	synonymous_variant	7415	exon15			CCTCTCTCGTTCT	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.2133A>G	9.37:g.35059088T>C			60	0	0		53	0.06	3	NM_007126	1518	0	1	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	CCDS6573.1																																																																																					0.552	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052290.1		NM_007126		C	35059088	T	C	35059088	2	2	130	1	0	0	0	0	0	0	0	1	17164	1538	54	4		4	VCP	9	35059088	Silent	SNP	T	TCGA-YU-A90P-01A-11D-A435-10		35059088	106154343	27	9698											
PHF2	5253	mdanderson.org	37	chr9	96407931	96407931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagacgtggtggcccGtgtgccaggaagtcagctca	8	8	15	10	2	2	2	2	1	0	1	2	3	2	3	2	3	3	2	2	3	2	0			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr9:96407931G>A	ENST00000359246.4	+	4	687	c.320G>A	c.(319-321)cGt>cAt	p.R107H	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	107					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GTGGTGGCCCGTGTGCCAGGA	0.657																																					p.R107H													.	.			0			c.G320A												83	78	80					9																	96407931		2203	4300	6503	SO:0001583	missense	5253	exon4			TGGCCCGTGTGCC	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.320G>A	9.37:g.96407931G>A	ENSP00000352185:p.Arg107His		38	0	0		33	0.09	3	NM_005392	20	0	0	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136239	0.56936	.	.	ENSG00000197724	ENST00000359246	T	0.70282	-0.47	4.61	1.54	0.23209	.	0.068049	0.56097	D	0.000036	T	0.47967	0.1474	N	0.20445	0.575	0.80722	D	1	B	0.21753	0.06	B	0.06405	0.002	T	0.26573	-1.0099	10	0.35671	T	0.21	-14.888	5.2539	0.15537	0.5864:0.0:0.4136:0.0	.	107	O75151	PHF2_HUMAN	H	107	ENSP00000352185:R107H	ENSP00000352185:R107H	R	+	2	0	PHF2	95447752	1.000000	0.71417	0.501000	0.27601	0.776000	0.43924	7.308000	0.78929	0.568000	0.29311	0.460000	0.39030	CGT			0.657	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053162.1		NM_005392		A	96407931	G	A	96407931	3	1	130	1	0	0	0	0	1	0	0	0	11847	1145	40	1	334	1	PHF2	9	96407931	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	61348843	96407931	44805500	28	9699											
SIRT1	23411	mdanderson.org	37	chr10	69676305	69676305	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatgaagctatatctgtGaaacaggaagtaacagacat	18	10	8	5	0	1	3	0	2	1	1	1	4	1	4	0	1	3	2	0	1	7	4			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr10:69676305G>T	ENST00000212015.6	+	9	2252	c.2199G>T	c.(2197-2199)gtG>gtT	p.V733V	SIRT1_ENST00000432464.1_Silent_p.V438V|SIRT1_ENST00000403579.1_Silent_p.V430V|SIRT1_ENST00000406900.1_Silent_p.V430V	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	733					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CTATATCTGTGAAACAGGAAG	0.408																																					p.V733V													.	.			0			c.G2199T												89	83	85					10																	69676305		2203	4300	6503	SO:0001819	synonymous_variant	23411	exon9			ATCTGTGAAACAG	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.2199G>T	10.37:g.69676305G>T			44	0	0		33	0.09	3	NM_012238	149	0	0	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Silent	SNP	ENST00000212015.6	37	CCDS7273.1																																																																																					0.408	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048296.1				T	69676305	G	T	69676305	2	4	130	1	0	0	0	0	0	0	0	1	14360	1277	45	3		3	SIRT1	10	69676305	Silent	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		69676305	65858442	29	9700											
DNMBP	23268	mdanderson.org	37	chr10	101643788	101643788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccattgtcaatcagccagCggttctggctgcccatgggg	6	10	12	13	1	3	0	2	0	1	0	4	0	4	0	3	4	3	2	3	4	1	2	rs376611193		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr10:101643788C>T	ENST00000324109.4	-	15	4068	c.3977G>A	c.(3976-3978)cGc>cAc	p.R1326H	DNMBP_ENST00000472036.1_5'Flank|DNMBP_ENST00000342239.3_Missense_Mutation_p.R1350H|DNMBP_ENST00000543621.1_Missense_Mutation_p.R572H|DNMBP_ENST00000540316.1_Missense_Mutation_p.R262H	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1326	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AATCAGCCAGCGGTTCTGGCT	0.463																																					p.R1326H													.	.			0			c.G3977A								HIS/ARG	0,4406		0,0,2203	61	63	62		3977	5.9	1	10		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNMBP	NM_015221.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1326/1578	101643788	1,13005	2203	4300	6503	SO:0001583	missense	23268	exon15			AGCCAGCGGTTCT	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3977G>A	10.37:g.101643788C>T	ENSP00000315659:p.Arg1326His		73	0	0		48	0.06	3	NM_015221	22	0	0	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505180	0.96371	0.0	1.16E-4	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.94	5.94	0.96194	Src homology-3 domain (2);	0.000000	0.46145	D	0.000314	D	0.83317	0.5228	M	0.81682	2.555	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	0.80944	-0.1156	10	0.36615	T	0.2	-13.9976	19.9687	0.97276	0.0:1.0:0.0:0.0	.	1326;572;1350	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	H	1350;1326;572;572;262	ENSP00000344914:R1350H;ENSP00000315659:R1326H;ENSP00000443657:R572H;ENSP00000443573:R262H	ENSP00000315659:R1326H	R	-	2	0	DNMBP	101633778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.759000	0.85235	2.820000	0.97059	0.650000	0.86243	CGC			0.463	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049832.2		NM_015221		T	101643788	C	T	101643788	3	4	130	1	0	0	0	0	1	0	0	0	4679	768	27	1	768	1	DNMBP	10	101643788	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	31967483	101643788	33890959	30	9701											
PDZD8	118987	hgsc.bcm.edu;mdanderson.org	37	chr10	119044191	119044191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagcttattacgataaaGaatttctgatgattcccatg	12	15	6	8	1	1	3	0	2	1	1	3	4	3	3	2	0	2	1	2	0	6	6			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr10:119044191G>T	ENST00000334464.5	-	5	2292	c.2053C>A	c.(2053-2055)Ctt>Att	p.L685I	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	685					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TTACGATAAAGAATTTCTGAT	0.423																																					p.L685I													.	.			0			c.C2053A												96	94	95					10																	119044191		2203	4300	6503	SO:0001583	missense	118987	exon5			GATAAAGAATTTC	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2053C>A	10.37:g.119044191G>T	ENSP00000334642:p.Leu685Ile		125	0	0		111	0.05	5	NM_173791	37	0	0	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	7.876	0.729149	0.15507	.	.	ENSG00000165650	ENST00000334464	D	0.86030	-2.06	5.87	5.87	0.94306	.	0.306918	0.35207	N	0.003376	T	0.77903	0.4200	N	0.19112	0.55	0.30405	N	0.779647	B	0.24258	0.1	B	0.21708	0.036	T	0.68123	-0.5492	10	0.25106	T	0.35	-3.0129	20.2043	0.98273	0.0:0.0:1.0:0.0	.	685	Q8NEN9	PDZD8_HUMAN	I	685	ENSP00000334642:L685I	ENSP00000334642:L685I	L	-	1	0	PDZD8	119034181	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.815000	0.62634	2.779000	0.95612	0.591000	0.81541	CTT			0.423	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050565.1		NM_173791		T	119044191	G	T	119044191	3	4	130	1	0	0	0	0	1	0	0	0	11722	942	33	3	1415	3	PDZD8	10	119044191	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	17400403	119044191	16490556	31	9702											
DCHS1	8642	mdanderson.org	37	chr11	6653321	6653321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagctgttgcaggctgtagGtcagacgtccattgggtcct	7	11	13	10	1	1	1	1	0	0	1	3	1	3	1	2	3	2	5	2	3	1	3			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr11:6653321G>T	ENST00000299441.3	-	6	3833	c.3422C>A	c.(3421-3423)aCc>aAc	p.T1141N	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1141	Cadherin 11. {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)		CAGGCTGTAGGTCAGACGTCC	0.597																																					p.T1141N													.	.			0			c.C3422A												84	82	83					11																	6653321		2201	4296	6497	SO:0001583	missense	8642	exon6			CTGTAGGTCAGAC	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.3422C>A	11.37:g.6653321G>T	ENSP00000299441:p.Thr1141Asn		17	0	0		21	0.1	2	NM_003737	15	0	0	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992035	0.54041	.	.	ENSG00000166341	ENST00000299441	T	0.01787	4.64	4.66	4.66	0.58398	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000209	T	0.06962	0.0177	L	0.51914	1.62	0.41280	D	0.986909	D	0.69078	0.997	D	0.80764	0.994	T	0.55988	-0.8053	10	0.18710	T	0.47	.	17.0688	0.86567	0.0:0.0:1.0:0.0	.	1141	Q96JQ0	PCD16_HUMAN	N	1141	ENSP00000299441:T1141N	ENSP00000299441:T1141N	T	-	2	0	DCHS1	6609897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.659000	0.37387	2.584000	0.87258	0.561000	0.74099	ACC			0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257258.1		NM_003737		T	6653321	G	T	6653321	3	4	130	1	0	0	0	0	1	0	0	0	4289	1261	44	3	6538	3	DCHS1	11	6653321	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		6653321	128353195	32	9703											
OR1S2	219958	broad.mit.edu	37	chr11	57970760	57970760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgtagatgaaggggttCatcatgggtgtcaccacagt	11	10	13	7	0	3	2	3	1	0	1	3	2	3	2	1	3	1	3	1	3	3	2	rs200054918		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr11:57970760C>T	ENST00000302592.6	-	1	893	c.894G>A	c.(892-894)atG>atA	p.M298I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M298I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGAAGGGGTTCATCATGGGTG	0.468																																					p.M298I													OR1S2,NS,carcinoma,0,3	OR1S2	119	3	1	Substitution - Missense(1)	endometrium(1)	c.G894A												160	152	155					11																	57970760		2201	4296	6497	SO:0001583	missense	219958	exon1			GGGGTTCATCATG	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.894G>A	11.37:g.57970760C>T	ENSP00000305469:p.Met298Ile		83	0.0120481928	1		79	0.06	5	NM_001004459	0		0	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903545	0.33628	.	.	ENSG00000197887	ENST00000302592	T	0.34072	1.38	4.75	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	1.116300	0.06795	N	0.787733	T	0.30386	0.0763	L	0.33137	0.985	0.26469	N	0.975316	B	0.02656	0.0	B	0.06405	0.002	T	0.34378	-0.9831	10	0.72032	D	0.01	.	10.1183	0.42605	0.0:0.7564:0.0:0.2436	.	298	Q8NGQ3	OR1S2_HUMAN	I	298	ENSP00000305469:M298I	ENSP00000305469:M298I	M	-	3	0	OR1S2	57727336	0.014000	0.17966	0.995000	0.50966	0.993000	0.82548	-0.853000	0.04303	0.694000	0.31654	0.655000	0.94253	ATG			0.468	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394703.2		NM_001004459		T	57970760	C	T	57970760	3	4	130	1	0	0	0	0	1	0	0	0	10990	826	29	3	86	3	OR1S2	11	57970760	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	51317439	57970760	77035756	33	9704											
INTS5	80789	mdanderson.org	37	chr11	62416258	62416258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccggtcacaagcctcacGcacggtgtctggcacagcca	9	6	11	15	3	3	0	2	0	1	0	3	0	3	0	3	3	3	2	3	3	2	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr11:62416258G>A	ENST00000330574.2	-	2	1346	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	432					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						CAAGCCTCACGCACGGTGTCT	0.632																																					p.R432C													.	.			0			c.C1294T												48	43	45					11																	62416258		2202	4299	6501	SO:0001583	missense	80789	exon2			CCTCACGCACGGT	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.1294C>T	11.37:g.62416258G>A	ENSP00000327889:p.Arg432Cys		121	0	0		88	0.05	4	NM_030628	48	0.02	1	Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	9.360	1.067850	0.20067	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.79	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	N	0.24115	0.695	0.40204	D	0.977546	D	0.89917	1.0	D	0.72338	0.977	T	0.54316	-0.8312	9	0.87932	D	0	.	5.4546	0.16584	0.095:0.0:0.5367:0.3683	.	432	Q6P9B9	INT5_HUMAN	C	432	.	ENSP00000327889:R432C	R	-	1	0	INTS5	62172834	1.000000	0.71417	0.568000	0.28447	0.394000	0.30568	3.115000	0.50391	0.585000	0.29608	-0.140000	0.14226	CGT			0.632	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395327.1		NM_030628		A	62416258	G	A	62416258	3	1	130	1	0	0	0	0	1	0	0	0	7796	1087	38	1	1769	1	INTS5	11	62416258	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	4445498	62416258	72590258	34	9705											
MYO7A	4647	mdanderson.org	37	chr11	76913417	76913417	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgaacggcggagcccGaggtgcgtgccaagccctac	8	4	15	14	5	0	0	0	0	0	0	0	3	0	1	3	3	8	1	3	3	3	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr11:76913417G>T	ENST00000409709.3	+	37	5388	c.5116G>T	c.(5116-5118)Gag>Tag	p.E1706*	MYO7A_ENST00000409619.2_Nonsense_Mutation_p.E1657*|MYO7A_ENST00000458637.2_Nonsense_Mutation_p.E1668*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1706					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						GGCGGAGCCCGAGGTGCGTGC	0.627																																					p.E1706X													.	.			0			c.G5116T												25	32	30					11																	76913417		2049	4180	6229	SO:0001587	stop_gained	4647	exon37			GAGCCCGAGGTGC	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.5116G>T	11.37:g.76913417G>T	ENSP00000386331:p.Glu1706*		45	0	0		46	0.07	3	NM_000260	8	0	0	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Nonsense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	41	9.075171	0.99057	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	.	.	.	5.04	5.04	0.67666	.	0.115591	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.3999	0.90513	0.0:0.0:1.0:0.0	.	.	.	.	X	1706;1668;1657;879;1705;1675;1582;848;321	.	ENSP00000345075:E1582X	E	+	1	0	MYO7A	76591065	1.000000	0.71417	0.940000	0.37924	0.878000	0.50629	7.421000	0.80204	2.340000	0.79590	0.543000	0.68304	GAG			0.627	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000328133.1		NM_000260		T	76913417	G	T	76913417	4	4	130	1	0	0	0	0	0	1	0	0	10098	1059	37	1	5292	1	MYO7A	11	76913417	Nonsense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	14497159	76913417	58093099	35	9706											
WBP11	51729	broad.mit.edu	37	chr12	14940229	14940229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgggattagtgatctgtgGcttggcactgatggttgctg	5	15	15	6	0	1	2	0	2	1	0	1	3	1	3	0	4	1	4	0	4	1	4			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr12:14940229G>T	ENST00000261167.2	-	12	1929	c.1696C>A	c.(1696-1698)Cca>Aca	p.P566T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	566					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GTGATCTGTGGCTTGGCACTG	0.512																																					p.P566T													.	WBP11	66		0			c.C1696A												369	367	368					12																	14940229		2203	4300	6503	SO:0001583	missense	51729	exon12			TCTGTGGCTTGGC	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1696C>A	12.37:g.14940229G>T	ENSP00000261167:p.Pro566Thr		63	0	0		223	0.02	5	NM_016312	1950	0	1	Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180114	0.78564	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	D;D	0.95272	-3.66;-3.66	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97842	1.0269	10	0.87932	D	0	-13.2801	16.0637	0.80856	0.0:0.0:1.0:0.0	.	566	Q9Y2W2	WBP11_HUMAN	T	566;532	ENSP00000261167:P566T;ENSP00000442868:P532T	ENSP00000261167:P566T	P	-	1	0	WBP11	14831496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.992000	0.93519	2.670000	0.90874	0.655000	0.94253	CCA			0.512	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400850.1		NM_016312		T	14940229	G	T	14940229	3	4	130	1	0	0	0	0	1	0	0	0	17282	1203	42	2	233	2	WBP11	12	14940229	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		14940229	118911666	36	9707											
CAPRIN2	65981	broad.mit.edu	37	chr12	30863206	30863206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccaggggccagattagagGttctggctgctgagaaggca	9	9	15	8	0	1	3	0	1	1	3	2	4	2	3	2	5	1	4	2	5	2	3			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr12:30863206G>T	ENST00000298892.5	-	17	3614	c.2864C>A	c.(2863-2865)aCc>aAc	p.T955N	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.T671N|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.T1005N|CAPRIN2_ENST00000395805.2_3'UTR	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGATTAGAGGTTCTGGCTGC	0.473																																					p.T1005N													.	CAPRIN2	109		0			c.C3014A												135	137	136					12																	30863206		2203	4300	6503	SO:0001583	missense	65981	exon18			TTAGAGGTTCTGG	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2864C>A	12.37:g.30863206G>T	ENSP00000298892:p.Thr955Asn		125	0	0		331	0.02	6	NM_001002259	278	0	0		Missense_Mutation	SNP	ENST00000298892.5	37	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365937	0.82463	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	D;D;D	0.86297	-2.1;-2.1;-2.1	5.81	4.92	0.64577	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.91016	0.7174	L	0.42529	1.33	0.50813	D	0.999891	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92072	0.5665	10	0.87932	D	0	-8.3052	16.3283	0.82996	0.0:0.0:0.8668:0.1332	.	1005;955	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	N	955;1005;671	ENSP00000298892:T955N;ENSP00000251071:T1005N;ENSP00000309785:T671N	ENSP00000251071:T1005N	T	-	2	0	CAPRIN2	30754473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.611000	0.98342	1.438000	0.47492	0.655000	0.94253	ACC			0.473	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000402778.1		NM_023925		T	30863206	G	T	30863206	3	4	130	1	0	0	0	0	1	0	0	0	2638	1261	44	3	373	3	CAPRIN2	12	30863206	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	15922977	30863206	102988689	37	9708											
RPGRIP1	57096	mdanderson.org	37	chr14	21769151	21769151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccaccttgctgcggttgaCcgctgctggccgggacctgc	4	8	14	15	3	0	1	0	1	0	0	0	3	0	2	5	3	4	4	5	3	0	2	rs371371555		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr14:21769151C>T	ENST00000400017.2	+	3	245	c.245C>T	c.(244-246)aCc>aTc	p.T82I	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.T82I|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.T82I|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.T82I	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	82					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTGCGGTTGACCGCTGCTGGC	0.612																																					p.T82I													.	.			0			c.C245T							C	ILE/THR	2,3762		0,2,1880	46	51	49		245	-0.5	0	14		49	0,8096		0,0,4048	no	missense	RPGRIP1	NM_020366.3	89	0,2,5928	TT,TC,CC		0.0,0.0531,0.0169	benign	82/1287	21769151	2,11858	1882	4048	5930	SO:0001583	missense	57096	exon3			GGTTGACCGCTGC	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.245C>T	14.37:g.21769151C>T	ENSP00000382895:p.Thr82Ile		62	0	0		49	0.06	3	NM_020366	0		0	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	c	11.90	1.775824	0.31411	5.31E-4	0.0	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	3.86	-0.517	0.11947	.	0.553788	0.18526	N	0.138638	T	0.59998	0.2235	L	0.48642	1.525	0.18873	N	0.999989	P	0.45902	0.868	B	0.36666	0.23	T	0.54879	-0.8227	10	0.41790	T	0.15	-1.1262	2.0319	0.03531	0.3525:0.3703:0.1721:0.105	.	82	Q96KN7	RPGR1_HUMAN	I	82	ENSP00000450445:T82I;ENSP00000451219:T82I;ENSP00000382895:T82I;ENSP00000206660:T82I	ENSP00000206660:T82I	T	+	2	0	RPGRIP1	20838991	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.707000	0.05041	-0.200000	0.10300	-0.556000	0.04195	ACC			0.612	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410258.1		NM_020366		T	21769151	C	T	21769151	3	4	130	1	0	0	0	0	1	0	0	0	13572	507	18	3	255	3	RPGRIP1	14	21769151	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10		21769151	85580389	38	9709											
SLC7A7	9056	mdanderson.org	37	chr14	23244708	23244708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacatggatcatgcagatgGcatcagggagatggccttct	11	9	12	9	0	3	2	2	0	1	2	3	4	3	3	1	4	2	2	1	4	1	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr14:23244708G>T	ENST00000397532.3	-	7	1565	c.1040C>A	c.(1039-1041)gCc>gAc	p.A347D	SLC7A7_ENST00000397528.4_Missense_Mutation_p.A347D|SLC7A7_ENST00000555702.1_Missense_Mutation_p.A347D|SLC7A7_ENST00000554517.1_Missense_Mutation_p.A81D|SLC7A7_ENST00000397529.2_Missense_Mutation_p.A347D|SLC7A7_ENST00000285850.7_Missense_Mutation_p.A347D|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	347					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CATGCAGATGGCATCAGGGAG	0.493																																					p.A347D													.	.			0			c.C1040A												123	113	117					14																	23244708		2203	4300	6503	SO:0001583	missense	9056	exon8			CAGATGGCATCAG	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1040C>A	14.37:g.23244708G>T	ENSP00000380666:p.Ala347Asp		42	0	0		35	0.09	3	NM_001126105	73	0	0	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	CCDS9574.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.981195|2.981195	0.53827|0.53827	.|.	.|.	ENSG00000155465|ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517|ENST00000556350	D;D;D;D;D;D|.	0.89939|.	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Amino acid permease domain (1);|.	0.321128|.	0.33438|.	N|.	0.004901|.	T|T	0.75376|0.75376	0.3841|0.3841	M|M	0.71206|0.71206	2.165|2.165	0.43107|0.43107	D|D	0.994803|0.994803	B|.	0.23490|.	0.086|.	B|.	0.31245|.	0.126|.	T|T	0.74805|0.74805	-0.3540|-0.3540	10|5	0.62326|.	D|.	0.03|.	.|.	18.1386|18.1386	0.89631|0.89631	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	347|.	Q9UM01|.	YLAT1_HUMAN|.	D|T	347;347;347;320;347;347;81|62	ENSP00000285850:A347D;ENSP00000451881:A347D;ENSP00000380666:A347D;ENSP00000380663:A347D;ENSP00000380662:A347D;ENSP00000452083:A81D|.	ENSP00000285850:A347D|.	A|P	-|-	2|1	0|0	SLC7A7|SLC7A7	22314548|22314548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.644000|1.644000	0.37228|0.37228	2.593000|2.593000	0.87608|0.87608	0.563000|0.563000	0.77884|0.77884	GCC|CCA			0.493	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071636.3				T	23244708	G	T	23244708	3	4	130	1	0	0	0	0	1	0	0	0	14726	1203	42	2	511	2	SLC7A7	14	23244708	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	1475557	23244708	84104832	39	9710											
VPS13C	54832	mdanderson.org	37	chr15	62204118	62204118	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaacttctagttctaatGatgacttgtttgcaatggta	10	15	8	8	1	2	2	0	2	2	0	2	2	2	2	1	1	2	4	1	1	5	7			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr15:62204118G>T	ENST00000261517.5	-	63	8709	c.8636C>A	c.(8635-8637)tCa>tAa	p.S2879*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.S2836*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.S2836*|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.S2879*	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						TAGTTCTAATGATGACTTGTT	0.383																																					p.S2879X													.	.			0			c.C8636A												122	114	117					15																	62204118		2203	4300	6503	SO:0001587	stop_gained	54832	exon63			TCTAATGATGACT	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.8636C>A	15.37:g.62204118G>T	ENSP00000261517:p.Ser2879*		85	0	0		75	0.05	4	NM_020821	6	0	0		Nonsense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	50	16.510572	0.99865	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.71	5.71	0.89125	.	0.219800	0.40818	N	0.001015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6551	0.68828	0.0:0.0:0.8546:0.1454	.	.	.	.	X	2836;2879;2879;2879	.	ENSP00000249837:S2836X	S	-	2	0	VPS13C	59991410	1.000000	0.71417	0.678000	0.29963	0.962000	0.63368	6.070000	0.71220	2.682000	0.91365	0.491000	0.48974	TCA			0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000415997.1		NM_017684		T	62204118	G	T	62204118	4	4	130	1	0	0	0	0	0	1	0	0	17215	1294	45	3	2745	3	VPS13C	15	62204118	Nonsense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		62204118	40327274	40	9711											
NUBP2	3483	mdanderson.org	37	chr16	1838172	1838172	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccaggggcggcggaGaggagctggcccagctcgcc	5	6	16	14	3	2	1	0	0	2	1	4	3	2	2	3	6	2	2	3	6	0	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr16:1838172G>T	ENST00000215539.3	-	0	2116				NUBP2_ENST00000565134.1_Missense_Mutation_p.E240D|NUBP2_ENST00000565987.1_Nonsense_Mutation_p.E152*|NUBP2_ENST00000568706.1_Nonsense_Mutation_p.E71*|NUBP2_ENST00000262302.9_Nonsense_Mutation_p.E212*|NUBP2_ENST00000543305.1_Nonsense_Mutation_p.E71*			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GGGCGGCGGAGAGGAGCTGGC	0.692																																					p.E212X													.	.			0			c.G634T												20	24	22					16																	1838172		2171	4267	6438	SO:0001628	intergenic_variant	10101	exon6			GGCGGAGAGGAGC	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1838172G>T			35	0	0		32	0.09	3	NM_012225	214	0	0	B4DZY8|E9PGU3	Nonsense_Mutation	SNP	ENST00000215539.3	37	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	38	6.801187	0.97849	.	.	ENSG00000095906	ENST00000262302;ENST00000543305	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-9.0277	15.8635	0.79043	0.0:0.0:1.0:0.0	.	.	.	.	X	212;71	.	ENSP00000262302:E212X	E	+	1	0	NUBP2	1778173	1.000000	0.71417	0.956000	0.39512	0.816000	0.46133	5.916000	0.69981	2.148000	0.66965	0.561000	0.74099	GAG			0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250509.2				T	1838172	G	T	1838172	1	4	130	0	1	0	0	0	0	0	0	0	10733	943	33	3		3	NUBP2	16	1838172	IGR	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		1838172	88516581	41	9712											
TK2	7084	broad.mit.edu	37	chr16	66565284	66565284	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcatctgaaacctaccTgaggacgagtatgcctgtcc	10	9	10	12	1	1	3	0	3	1	0	2	5	2	4	4	1	4	2	4	1	3	2			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr16:66565284T>A	ENST00000451102.2	-	5	724	c.374A>T	c.(373-375)cAg>cTg	p.Q125L	TK2_ENST00000299697.7_Splice_Site_p.Q167L|TK2_ENST00000544898.1_Splice_Site_p.Q76L|TK2_ENST00000417693.3_Splice_Site_p.Q107L|TK2_ENST00000564917.1_Splice_Site_p.Q125L|TK2_ENST00000525974.1_Splice_Site_p.Q28L|TK2_ENST00000545043.2_Splice_Site_p.Q100L|TK2_ENST00000563369.2_Splice_Site_p.Q28L|TK2_ENST00000527284.1_Splice_Site_p.Q94L|TK2_ENST00000527800.1_Splice_Site_p.Q28L			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	125					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GAAACCTACCTGAGGACGAGT	0.507																																					p.Q125L													.	TK2	17		0			c.A374T												114	83	94					16																	66565284		2201	4300	6501	SO:0001630	splice_region_variant	7084	exon5			CCTACCTGAGGAC		CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.375+1A>T	16.37:g.66565284T>A			70	0	0		65	0.05	3	NM_004614	20	0	0	B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Splice_Site	SNP	ENST00000451102.2	37	CCDS10805.2	.	.	.	.	.	.	.	.	.	.	T	11.24	1.581023	0.28180	.	.	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000545043;ENST00000451102;ENST00000527800;ENST00000527284;ENST00000544898;ENST00000525974	D;D;D;D;D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63	5.74	3.38	0.38709	.	0.547087	0.20964	N	0.082501	D	0.93969	0.8069	L	0.47716	1.5	0.36030	D	0.839316	B;B;B;B;B;B	0.28400	0.21;0.116;0.001;0.004;0.21;0.001	B;B;B;B;B;B	0.28465	0.09;0.05;0.001;0.038;0.09;0.002	D	0.90731	0.4642	10	0.18710	T	0.47	-38.0958	5.3303	0.15928	0.1581:0.0873:0.0:0.7547	.	167;125;76;89;167;94	Q8IZR3;O00142;F5GYK4;A4IF54;E5KNQ5;O00142-2	.;KITM_HUMAN;.;.;.;.	L	167;107;100;125;28;94;76;28	ENSP00000299697:Q167L;ENSP00000407469:Q107L;ENSP00000438143:Q100L;ENSP00000414334:Q125L;ENSP00000433770:Q28L;ENSP00000435312:Q94L;ENSP00000440898:Q76L;ENSP00000434594:Q28L	ENSP00000299697:Q167L	Q	-	2	0	TK2	65122785	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	1.695000	0.37763	2.193000	0.70182	0.402000	0.26972	CAG			0.507	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268806.4			Missense_Mutation	A	66565284	T	A	66565284	5	1	130	1	0	0	0	0	0	0	1	0	15956	1594	55	5	447	5	TK2	16	66565284	Splice_Site	SNP	T	TCGA-YU-A90P-01A-11D-A435-10	64727112	66565284	23789469	42	9713											
FUK	197258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	70502854	70502854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacctaggcttggactccGgagcccggcctgtccaggtg	5	8	13	15	2	0	0	0	0	0	0	2	2	2	2	6	5	2	1	6	5	2	3	rs200140905	byFrequency	TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr16:70502854G>A	ENST00000288078.6	+	9	998	c.766G>A	c.(766-768)Gga>Aga	p.G256R	FUK_ENST00000378912.2_Missense_Mutation_p.G288R|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	256						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)				CTTGGACTCCGGAGCCCGGCC	0.672													G|||	8	0.00159744	0	0	5008	,	,		16476	0		0	False		,,,				2504	0.0082				p.G256R													.	.			0			c.G766A												46	50	49					16																	70502854		1969	4143	6112	SO:0001583	missense	197258	exon9			GACTCCGGAGCCC		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.766G>A	16.37:g.70502854G>A	ENSP00000288078:p.Gly256Arg		67	0	0		77	0.23	18	NM_145059	34	0.41	14	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	34	5.374976	0.95923	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.36699	1.24;1.24	5.33	5.33	0.75918	L-fucokinase (1);	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	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	0.63470	-0.6630	10	0.62326	D	0.03	-7.1129	19.4187	0.94712	0.0:0.0:1.0:0.0	.	288;256	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	R	256;288	ENSP00000288078:G256R;ENSP00000368192:G288R	ENSP00000288078:G256R	G	+	1	0	FUK	69060355	1.000000	0.71417	0.981000	0.43875	0.956000	0.61745	8.676000	0.91199	2.693000	0.91896	0.650000	0.86243	GGA	0.001		0.672	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157291.2		NM_145059		A	70502854	G	A	70502854	3	1	130	1	0	0	0	0	1	0	0	0	6109	1117	39	1	796	1	FUK	16	70502854	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	3937570	70502854	19851899	43	9714											
IL34	146433	broad.mit.edu	37	chr16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccctcattgcagtatgCggccacccagctgtaccctc	8	8	9	16	1	1	1	1	0	0	1	2	1	1	1	4	1	5	4	4	1	2	3	rs201277640		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000566361.1_Missense_Mutation_p.A183V|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000429149.2_Missense_Mutation_p.A208V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0	0	5008	,	,		14065	0		0.001	False		,,,				2504	0				p.A208V													IL34,bladder,carcinoma,0,3	IL34	26	3	1	Substitution - Missense(1)	urinary_tract(1)	c.C623T							C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96	105	102		620,623,623	-3.1	0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433	exon7			AGTATGCGGCCAC	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val		256	0	0		234	0.03	6	NM_152456	104	0	0	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG			0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268971.3		NM_152456		T	70693984	C	T	70693984	3	4	130	1	0	0	0	0	1	0	0	0	7709	768	27	1	645	1	IL34	16	70693984	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	191130	70693984	19660769	44	9715											
HSDL1	83693	mdanderson.org	37	chr16	84163181	84163181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgggaccaatatcctgtgGtccttttggaaatcccaaga	12	11	9	9	0	0	1	0	0	0	1	3	3	3	3	4	3	0	0	4	3	5	3			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr16:84163181G>T	ENST00000219439.4	-	5	1042	c.866C>A	c.(865-867)aCc>aAc	p.T289N	HSDL1_ENST00000434463.3_Missense_Mutation_p.T234N	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	289						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						ATATCCTGTGGTCCTTTTGGA	0.443																																					p.T289N													.	.			0			c.C866A												85	82	83					16																	84163181		2200	4300	6500	SO:0001583	missense	83693	exon5			CCTGTGGTCCTTT	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	16475	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 3"					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.866C>A	16.37:g.84163181G>T	ENSP00000219439:p.Thr289Asn		55	0	0		44	0.07	3	NM_031463	47	0	0	B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	ENST00000219439.4	37	CCDS10942.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800130	0.90538	.	.	ENSG00000103160	ENST00000434463;ENST00000219439	D;T	0.89617	-2.54;0.67	5.3	5.3	0.74995	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.913	D	0.96141	0.9100	10	0.72032	D	0.01	-35.9106	19.3134	0.94202	0.0:0.0:1.0:0.0	.	234;289	B4DSL2;Q3SXM5	.;HSDL1_HUMAN	N	234;289	ENSP00000407437:T234N;ENSP00000219439:T289N	ENSP00000219439:T289N	T	-	2	0	HSDL1	82720682	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.238000	0.95380	2.642000	0.89623	0.563000	0.77884	ACC			0.443	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269076.3		NM_031463		T	84163181	G	T	84163181	3	4	130	1	0	0	0	0	1	0	0	0	7408	1261	44	3	134	3	HSDL1	16	84163181	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	13469197	84163181	6191572	45	9716											
C1QBP	708	mdanderson.org	37	chr17	5341589	5341589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatcaacaaaagctttGtctcctagaaaagaaatcca	19	8	6	8	0	2	2	1	0	1	2	4	3	3	3	2	1	2	1	2	1	8	2			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr17:5341589G>T	ENST00000225698.4	-	2	318	c.237C>A	c.(235-237)gaC>gaA	p.D79E	C1QBP_ENST00000574444.1_5'UTR	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	79	C1q binding.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CAAAAGCTTTGTCTCCTAGAA	0.383																																					p.D79E													.	.			0			c.C237A												53	54	54					17																	5341589		2203	4300	6503	SO:0001583	missense	708	exon2			AGCTTTGTCTCCT	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein"	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.237C>A	17.37:g.5341589G>T	ENSP00000225698:p.Asp79Glu		63	0	0		52	0.06	3	NM_001212	515	0	0	Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051361	0.55218	.	.	ENSG00000108561	ENST00000225698	.	.	.	4.77	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.60136	-0.7322	9	0.15952	T	0.53	-35.0296	11.5569	0.50752	0.0874:0.0:0.9126:0.0	.	79	Q07021	C1QBP_HUMAN	E	79	.	ENSP00000225698:D79E	D	-	3	2	C1QBP	5282313	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.158000	0.58150	1.224000	0.43551	0.650000	0.86243	GAC			0.383	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439388.1		NM_001212		T	5341589	G	T	5341589	3	4	130	1	0	0	0	0	1	0	0	0	1958	1368	48	3	631	3	C1QBP	17	5341589	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		5341589	75853621	46	9717											
KIF18B	146909	broad.mit.edu	37	chr17	43009468	43009468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctctggggactgctcctGgtctgaagagttcccttcca	6	12	10	13	0	2	2	0	1	2	1	6	3	6	3	4	3	1	2	4	3	1	2	rs530568919		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr17:43009468G>T	ENST00000593135.1	-	10	1442	c.1345C>A	c.(1345-1347)Cag>Aag	p.Q449K	KIF18B_ENST00000587309.1_Missense_Mutation_p.Q461K|KIF18B_ENST00000339151.4_Missense_Mutation_p.Q461K|KIF18B_ENST00000590129.1_Missense_Mutation_p.Q470K|KIF18B_ENST00000438933.2_Missense_Mutation_p.Q461K	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	470					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GACTGCTCCTGGTCTGAAGAG	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		17130	0		0	False		,,,				2504	0				p.Q461K													.	KIF18B	63		0			c.C1381A																																									SO:0001583	missense	146909	exon10			GCTCCTGGTCTGA		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1345C>A	17.37:g.43009468G>T	ENSP00000465992:p.Gln449Lys		100	0	0		102	0.04	4	NM_001264573	67	0	0	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015266	0.35511	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.62941	-0.01;-0.01	5.46	1.06	0.20224	.	.	.	.	.	T	0.42426	0.1202	L	0.47716	1.5	0.09310	N	1	B;P;B	0.37207	0.131;0.587;0.122	B;B;B	0.32465	0.016;0.146;0.036	T	0.30736	-0.9968	9	0.06236	T	0.91	.	4.4762	0.11745	0.1694:0.0:0.5057:0.3248	.	470;458;470	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	K	461	ENSP00000412798:Q461K;ENSP00000341466:Q461K	ENSP00000341466:Q461K	Q	-	1	0	KIF18B	40364994	0.009000	0.17119	0.001000	0.08648	0.622000	0.37654	0.647000	0.24812	0.049000	0.15920	0.655000	0.94253	CAG			0.627	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000448724.1		NM_001080443		T	43009468	G	T	43009468	3	4	130	1	0	0	0	0	1	0	0	0	8296	1357	47	3	1213	3	KIF18B	17	43009468	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	37667879	43009468	38185742	47	9718											
CASKIN2	57513	mdanderson.org	37	chr17	73498038	73498038	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggaaggctgctgggctcGggctggggaaggctagaagc	7	6	20	8	1	0	1	0	0	0	1	1	3	0	3	0	7	2	6	0	7	4	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr17:73498038G>T	ENST00000321617.3	-	18	3703	c.3117C>A	c.(3115-3117)ccC>ccA	p.P1039P	CASKIN2_ENST00000433559.2_Silent_p.P957P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1039	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)			TGCTGGGCTCGGGCTGGGGAA	0.692																																					p.P1039P													.	.			0			c.C3117A												40	53	49					17																	73498038		2203	4299	6502	SO:0001819	synonymous_variant	57513	exon18			GGGCTCGGGCTGG	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.3117C>A	17.37:g.73498038G>T			49	0	0		55	0.05	3	NM_020753	60	0	0	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	CCDS11723.1																																																																																					0.692	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447609.1		NM_020753		T	73498038	G	T	73498038	2	4	130	1	0	0	0	0	0	0	0	1	2669	1103	39	1		1	CASKIN2	17	73498038	Silent	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	30488570	73498038	7697172	48	9719											
TBCD	6904	mdanderson.org	37	chr17	80739475	80739475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttggcagatttatcacaCgtcctgatgtcaagcaaagc	11	12	8	10	1	2	2	2	1	0	1	3	2	3	2	1	1	2	2	1	1	3	4			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr17:80739475C>T	ENST00000355528.4	+	7	779	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.R217C	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	217					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			ATTTATCACACGTCCTGATGT	0.577											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R217C													.	.			0			c.C649T												70	73	72					17																	80739475		2136	4242	6378	SO:0001583	missense	6904	exon7			ATCACACGTCCTG	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.649C>T	17.37:g.80739475C>T	ENSP00000347719:p.Arg217Cys		37	0	0	1200	41	0.07	3	NM_005993	422	0	0	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873972	0.51695	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000536182	T	0.49139	0.79	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.77685	0.4167	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.87578	0.875;0.963;0.998	D	0.84325	0.0518	8	.	.	.	.	16.5485	0.84457	0.0:1.0:0.0:0.0	.	217;217;217	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	C	217;200;217	ENSP00000347719:R217C	.	R	+	1	0	TBCD	78332764	0.995000	0.38212	0.582000	0.28627	0.053000	0.15095	3.612000	0.54142	2.511000	0.84671	0.456000	0.33151	CGT			0.577	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439415.1		NM_005993		T	80739475	C	T	80739475	3	4	130	1	0	0	0	0	1	0	0	0	15656	536	19	1	675	1	TBCD	17	80739475	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	7241437	80739475	455735	49	9720											
ANKRD30B	374860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	14748512	14748512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacactgagaaggactacGggaccatctacttcggggat	11	9	11	10	2	2	1	0	1	2	1	3	5	2	4	1	4	3	0	1	4	4	4	rs372583134		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr18:14748512G>C	ENST00000358984.4	+	1	274	c.94G>C	c.(94-96)Ggg>Cgg	p.G32R	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.G32R|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	32										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAGGACTACGGGACCATCTA	0.607																																					p.G32R													.	.			0			c.G94C												36	37	37					18																	14748512		692	1591	2283	SO:0001583	missense	374860	exon1			GACTACGGGACCA	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.94G>C	18.37:g.14748512G>C	ENSP00000351875:p.Gly32Arg		70	0	0		74	0.22	16	NM_001145029	0		0	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.617722	0.00828	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.31769	1.53;1.48	0.512	-1.02	0.10135	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	P	0.51453	0.67	T	0.09357	-1.0678	8	0.42905	T	0.14	.	.	.	.	.	32	F8WAG3	.	R	32	ENSP00000351875:G32R;ENSP00000399031:G32R	ENSP00000351875:G32R	G	+	1	0	ANKRD30B	14738512	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.859000	0.01657	-1.971000	0.01002	-1.322000	0.01289	GGG			0.607	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000443557.1		NM_001145029		C	14748512	G	C	14748512	3	2	130	1	0	0	0	0	1	0	0	0	659	1116	39	5	96	5	ANKRD30B	18	14748512	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		14748512	63328736	50	9721											
HNRNPM	4670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	8539106	8539106	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgggtcgatttggatctggGatgaacatgggcaggataaa	12	10	15	4	1	1	1	0	1	1	0	2	5	1	4	0	5	1	1	0	5	3	2	rs375739833		TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr19:8539106G>C	ENST00000325495.4	+	12	1139	c.1098G>C	c.(1096-1098)ggG>ggC	p.G366G	HNRNPM_ENST00000348943.3_Silent_p.G327G	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	366					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TTGGATCTGGGATGAACATGG	0.493																																					p.G366G													HNRNPM,NS,malignant_melanoma,+2,1	HNRNPM	2	1	0			c.G1098C												314	263	280					19																	8539106		2203	4300	6503	SO:0001819	synonymous_variant	4670	exon12			ATCTGGGATGAAC	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1098G>C	19.37:g.8539106G>C			132	0	0		141	0.13	19	NM_005968	1490	0.23	338	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	CCDS12203.1																																																																																					0.493	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000460894.1				C	8539106	G	C	8539106	2	2	130	1	0	0	0	0	0	0	0	1	7286	1161	41	5		5	HNRNPM	19	8539106	Silent	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		8539106	50589877	51	9722											
ZNF224	7767	mdanderson.org	37	chr19	44611473	44611473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagatgggcctcgtgtcTtttgaaacatcagcgagtcc	8	12	10	11	2	3	2	2	1	1	1	5	3	4	2	2	1	2	0	2	1	1	3			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr19:44611473T>A	ENST00000336976.6	+	6	1414	c.1160T>A	c.(1159-1161)cTt>cAt	p.L387H	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	387					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GCCTCGTGTCTTTTGAAACAT	0.418																																					p.L387H													.	.			0			c.T1160A												75	75	75					19																	44611473		2203	4300	6503	SO:0001583	missense	7767	exon6			CGTGTCTTTTGAA	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1160T>A	19.37:g.44611473T>A	ENSP00000337368:p.Leu387His		47	0	0		58	0.07	4	NM_013398	37	0	0	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	t	17.31	3.357565	0.61293	.	.	ENSG00000186019	ENST00000336976	T	0.54071	0.59	3.59	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79275	0.4418	H	0.95224	3.64	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70410	-0.4879	9	0.87932	D	0	.	11.573	0.50845	0.0:0.0:0.0:1.0	.	387	Q9NZL3	ZN224_HUMAN	H	387	ENSP00000337368:L387H	ENSP00000337368:L387H	L	+	2	0	ZNF224	49303313	0.279000	0.24239	0.002000	0.10522	0.064000	0.16182	3.603000	0.54074	1.627000	0.50400	0.482000	0.46254	CTT			0.418	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460477.1		NM_013398		A	44611473	T	A	44611473	3	1	130	1	0	0	0	0	1	0	0	0	17801	1609	56	5	1174	5	ZNF224	19	44611473	Missense_Mutation	SNP	T	TCGA-YU-A90P-01A-11D-A435-10	36072367	44611473	14517510	52	9723											
MYPOP	339344	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	46394069	46394069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagccaccacggacaCgggctctggggtgatctcca	9	5	12	15	2	2	1	0	1	2	0	3	2	2	2	3	4	2	2	3	4	0	0			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr19:46394069C>T	ENST00000322217.5	-	3	1098	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	338	Pro-rich.					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 negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						ACCACGGACACGGGCTCTGGG	0.736																																					p.V338M													.	.			0			c.G1012A												3	4	4					19																	46394069		1952	3838	5790	SO:0001583	missense	339344	exon3			CGGACACGGGCTC	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"p42 Myb-related transcription factor, partner of profilin"					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1012G>A	19.37:g.46394069C>T	ENSP00000325402:p.Val338Met		26	0	0		30	0.17	5	NM_001012643	1	1	1		Missense_Mutation	SNP	ENST00000322217.5	37	CCDS33055.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812649	0.32053	.	.	ENSG00000176182	ENST00000322217	T	0.50813	0.73	3.65	3.65	0.41850	.	0.142736	0.30193	N	0.010193	T	0.46073	0.1374	N	0.14661	0.345	0.20703	N	0.999861	D	0.76494	0.999	P	0.61275	0.886	T	0.34428	-0.9829	10	0.72032	D	0.01	-11.4596	11.5636	0.50792	0.0:1.0:0.0:0.0	.	338	Q86VE0	MYPOP_HUMAN	M	338	ENSP00000325402:V338M	ENSP00000325402:V338M	V	-	1	0	MYPOP	51085909	0.876000	0.30132	0.845000	0.33349	0.179000	0.23085	1.548000	0.36201	1.972000	0.57404	0.561000	0.74099	GTG			0.736	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461684.1		NM_001012643		T	46394069	C	T	46394069	3	4	130	1	0	0	0	0	1	0	0	0	10115	536	19	1	191	1	MYPOP	19	46394069	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	1782596	46394069	12734914	53	9724											
KCNC3	3748	mdanderson.org	37	chr19	50831872	50831872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacgtcggctgggcagtgCagcttgccggtgcggtagta	6	8	16	11	4	0	0	0	0	0	0	1	0	0	0	1	4	4	6	1	4	2	3			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr19:50831872C>T	ENST00000477616.1	-	1	762	c.468G>A	c.(466-468)ctG>ctA	p.L156L	KCNC3_ENST00000474951.1_Intron|NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000376959.2_Silent_p.L156L|KCNC3_ENST00000391818.2_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	156					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)	CTGGGCAGTGCAGCTTGCCGG	0.657																																					p.L156L	Melanoma(91;1496 2324 50908)												.	.			0			c.G468A												28	33	31					19																	50831872		2202	4298	6500	SO:0001819	synonymous_variant	3748	exon1			GCAGTGCAGCTTG	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.468G>A	19.37:g.50831872C>T			60	0	0		44	0.07	3	NM_004977	2	0	0		Silent	SNP	ENST00000477616.1	37	CCDS12793.1																																																																																					0.657	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314288.2		NM_004977		T	50831872	C	T	50831872	2	4	130	1	0	0	0	0	0	0	0	1	8031	697	25	2		2	KCNC3	19	50831872	Silent	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	4437803	50831872	8297111	54	9725											
STK35	140901	hgsc.bcm.edu	37	chr20	2083851	2083851	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgagaacgtggagctggcGctggctgaattctgggccct	6	8	15	12	3	1	2	0	1	1	1	1	4	1	3	2	4	2	3	2	4	2	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr20:2083851G>T	ENST00000381482.3	+	2	1003	c.732G>T	c.(730-732)gcG>gcT	p.A244A	STK35_ENST00000246032.3_Silent_p.A111A|STK35_ENST00000400064.3_Silent_p.A72A			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						TGGAGCTGGCGCTGGCTGAAT	0.672																																					p.A244A													.	.			0			c.G732T												18	19	19					20																	2083851		2202	4300	6502	SO:0001819	synonymous_variant	140901	exon2			GCTGGCGCTGGCT	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.732G>T	20.37:g.2083851G>T			46	0	0		64	0.08	5	NM_080836	67	0	0	B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Silent	SNP	ENST00000381482.3	37	CCDS13024.2																																																																																					0.672	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077574.3		NM_080836		T	2083851	G	T	2083851	2	4	130	1	0	0	0	0	0	0	0	1	15324	1074	38	1		1	STK35	20	2083851	Silent	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		2083851	60941669	55	9726											
SIGLEC1	6614	mdanderson.org	37	chr20	3674127	3674127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgataggtctggagaggcGgggtgcccgaccaggggggc	6	5	22	8	2	1	2	0	1	1	1	1	4	1	2	2	9	1	0	2	9	1	1			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr20:3674127G>T	ENST00000344754.4	-	13	3474	c.3475C>A	c.(3475-3477)Cgc>Agc	p.R1159S	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1159S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1159	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGGAGAGGCGGGGTGCCCGA	0.652																																					p.R1159S													.	.			0			c.C3475A												29	35	33					20																	3674127		2203	4299	6502	SO:0001583	missense	6614	exon13			AGAGGCGGGGTGC	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.3475C>A	20.37:g.3674127G>T	ENSP00000341141:p.Arg1159Ser		25	0	0		26	0.08	2	NM_023068	20	0	0	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352183	0.41700	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.11930	2.73;2.73	5.52	3.52	0.40303	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.112820	0.06893	N	0.804582	T	0.15046	0.0363	N	0.25426	0.745	0.09310	N	1	D;P	0.55605	0.972;0.928	P;P	0.54238	0.746;0.644	T	0.04885	-1.0920	10	0.06757	T	0.87	.	7.3808	0.26854	0.0873:0.0:0.7482:0.1645	.	1159;1159	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	S	1159	ENSP00000341141:R1159S;ENSP00000202578:R1159S	ENSP00000202578:R1159S	R	-	1	0	SIGLEC1	3622127	0.013000	0.17824	0.037000	0.18230	0.240000	0.25518	1.473000	0.35387	1.319000	0.45190	0.655000	0.94253	CGC			0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077761.2		NM_023068		T	3674127	G	T	3674127	3	4	130	1	0	0	0	0	1	0	0	0	14328	1116	39	1	1690	1	SIGLEC1	20	3674127	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10	1590276	3674127	59351393	56	9727											
ZNF341	84905	mdanderson.org	37	chr20	32378974	32378974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcggcccccaaaaggacaAggacctgcaaacccggcggc	11	3	11	16	3	1	0	0	0	1	0	2	2	1	2	4	5	2	1	4	5	4	0			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chr20:32378974A>G	ENST00000375200.1	+	15	2581	c.2216A>G	c.(2215-2217)aAg>aGg	p.K739R	RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.K732R|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	739					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						CAAAAGGACAAGGACCTGCAA	0.662																																					p.K732R													.	.			0			c.A2195G												28	31	30					20																	32378974		2203	4292	6495	SO:0001583	missense	84905	exon15			AGGACAAGGACCT	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.2216A>G	20.37:g.32378974A>G	ENSP00000364346:p.Lys739Arg		72	0	0		63	0.05	3	NM_032819	28	0	0	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37		.	.	.	.	.	.	.	.	.	.	A	14.81	2.645569	0.47258	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.09911	3.16;2.93	4.97	3.79	0.43588	.	0.064046	0.64402	D	0.000011	T	0.14570	0.0352	L	0.29908	0.895	0.35171	D	0.771543	P;D;P;P	0.55172	0.808;0.97;0.915;0.949	B;P;B;P	0.54346	0.304;0.749;0.392;0.596	T	0.13683	-1.0500	10	0.49607	T	0.09	-7.3036	11.6341	0.51194	0.8515:0.1485:0.0:0.0	.	680;591;739;732	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	R	732;739	ENSP00000344308:K732R;ENSP00000364346:K739R	ENSP00000344308:K732R	K	+	2	0	ZNF341	31842635	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	4.198000	0.58419	2.005000	0.58758	0.402000	0.26972	AAG			0.662	ZNF341-201	KNOWN	basic	protein_coding	protein_coding						G	32378974	A	G	32378974	3	3	130	1	0	0	0	0	1	0	0	0	17880	72	3	4	2253	4	ZNF341	20	32378974	Missense_Mutation	SNP	A	TCGA-YU-A90P-01A-11D-A435-10	28704847	32378974	30646546	57	9728											
RIBC1	158787	broad.mit.edu	37	chrX	53457699	53457699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtatttcaaaggggtctagGatccttcaaccagcagctgg	10	11	11	9	0	3	0	2	0	1	0	4	1	4	1	2	4	3	3	2	4	4	4			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chrX:53457699G>T	ENST00000375327.3	+	7	1172	c.1019G>T	c.(1018-1020)gGa>gTa	p.G340V	RIBC1_ENST00000414955.2_Missense_Mutation_p.G225V|HSD17B10_ENST00000495986.1_5'Flank|RP3-339A18.6_ENST00000418049.1_RNA	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	340										lung(2)	2						AGGGGTCTAGGATCCTTCAAC	0.512																																					p.G340V													.	RIBC1	20		0			c.G1019T												74	56	62					X																	53457699		2203	4300	6503	SO:0001583	missense	158787	exon7			GTCTAGGATCCTT	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.1019G>T	X.37:g.53457699G>T	ENSP00000364476:p.Gly340Val		57	0	0		76	0.04	3	NM_001031745	6	0	0	B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	37	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227944	0.39399	.	.	ENSG00000158423	ENST00000414955;ENST00000375327	T;T	0.22539	1.95;1.95	4.99	2.82	0.32997	.	0.049864	0.85682	D	0.000000	T	0.36552	0.0971	M	0.70595	2.14	0.23743	N	0.996967	D;B	0.76494	0.999;0.288	D;B	0.68483	0.958;0.174	T	0.08207	-1.0733	10	0.29301	T	0.29	-9.1939	6.6086	0.22739	0.3439:0.0:0.656:0.0	.	225;340	E9PDU2;Q8N443	.;RIBC1_HUMAN	V	225;340	ENSP00000401463:G225V;ENSP00000364476:G340V	ENSP00000364476:G340V	G	+	2	0	RIBC1	53474424	0.928000	0.31464	0.521000	0.27850	0.952000	0.60782	2.891000	0.48617	1.035000	0.39972	0.600000	0.82982	GGA			0.512	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056762.1		NM_144968		T	53457699	G	T	53457699	3	4	130	1	0	0	0	0	1	0	0	0	13375	1174	41	3	1072	3	RIBC1	23	53457699	Missense_Mutation	SNP	G	TCGA-YU-A90P-01A-11D-A435-10		53457699	101812861	58	9729											
AFF2	2334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	147891442	147891442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgttgaagaaatcttgCgggtgagtttaaacctttat	10	15	11	5	1	1	3	0	2	1	1	1	3	1	3	1	1	2	3	1	1	5	6			TCGA-YU-A90P-01A-11D-A435-10	TCGA-YU-A90P-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	74fe6dad-8904-4817-9bd1-c10506bcf478	9a3ac787-1752-4e74-bb5b-2d9ec803541a	g.chrX:147891442C>T	ENST00000370460.2	+	4	1563	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	AFF2_ENST00000342251.3_Missense_Mutation_p.R358W|AFF2_ENST00000370457.5_Missense_Mutation_p.R358W|AFF2_ENST00000286437.5_Missense_Mutation_p.R32W|AFF2_ENST00000370458.1_Missense_Mutation_p.R358W	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	362					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)					AGAAATCTTGCGGGTGAGTTT	0.333																																					p.R362W													.	.			0			c.C1084T												209	178	189					X																	147891442		2203	4300	6503	SO:0001583	missense	2334	exon4			ATCTTGCGGGTGA	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.1084C>T	X.37:g.147891442C>T	ENSP00000359489:p.Arg362Trp		113	0	0		139	0.35	48	NM_002025	0		0	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911042	0.72983	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.15	5.87	3.92	0.45320	.	0.141084	0.45606	D	0.000353	T	0.74261	0.3693	L	0.39245	1.2	0.42677	D	0.993536	D;D;D;D;D;D;D	0.89917	0.998;0.997;0.997;0.997;0.997;0.998;1.0	P;P;P;P;P;P;D	0.97110	0.861;0.781;0.781;0.781;0.781;0.861;1.0	T	0.77278	-0.2647	10	0.87932	D	0	.	13.3558	0.60627	0.132:0.7567:0.1114:0.0	.	32;362;358;358;358;362;358	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	W	362;358;358;358;32	ENSP00000359489:R362W;ENSP00000359486:R358W;ENSP00000345459:R358W;ENSP00000359487:R358W;ENSP00000286437:R32W	ENSP00000286437:R32W	R	+	1	2	AFF2	147699134	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.179000	0.42528	1.225000	0.43566	0.600000	0.82982	CGG			0.333	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058673.2		NM_002025		T	147891442	C	T	147891442	3	4	130	1	0	0	0	0	1	0	0	0	357	759	27	1	1153	1	AFF2	23	147891442	Missense_Mutation	SNP	C	TCGA-YU-A90P-01A-11D-A435-10	94433743	147891442	7379118	59	9730											
SDHB	6390	hgsc.bcm.edu	37	chr1	17371263	17371263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagatactcacttattaaGgtcaacttcataagtctgca	14	12	6	9	0	4	1	3	0	1	1	4	2	4	1	0	1	3	1	0	1	5	5			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr1:17371263G>T	ENST00000375499.3	-	2	343	c.193C>A	c.(193-195)Ctt>Att	p.L65I	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	65	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.		L -> H (in pheochromocytoma). {ECO:0000269|PubMed:12618761}.|L -> P (in pheochromocytoma). {ECO:0000269|PubMed:15328326}.		aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		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;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CACTTATTAAGGTCAACTTCA	0.433			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																												p.L65I			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"		O	.	.			0			c.C193A												116	113	114					1																	17371263		2203	4300	6503	SO:0001583	missense	6390	exon2	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	TATTAAGGTCAAC	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"Mitochondrial respiratory chain complex / Complex II"	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.193C>A	1.37:g.17371263G>T	ENSP00000364649:p.Leu65Ile		81	0	0		92	0.04	4	NM_003000	158	0	0	B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	CCDS176.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662347	0.47572	.	.	ENSG00000117118	ENST00000375499	D	0.98937	-5.25	5.65	1.61	0.23674	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.000000	0.64402	D	0.000001	D	0.98463	0.9488	M	0.66439	2.03	0.58432	D	0.999999	D	0.59357	0.985	D	0.71184	0.972	D	0.97601	1.0123	10	0.72032	D	0.01	-12.3203	8.025	0.30431	0.5576:0.0:0.4424:0.0	.	65	P21912	DHSB_HUMAN	I	65	ENSP00000364649:L65I	ENSP00000364649:L65I	L	-	1	0	SDHB	17243850	1.000000	0.71417	0.995000	0.50966	0.305000	0.27757	3.134000	0.50538	0.128000	0.18479	-0.136000	0.14681	CTT			0.433	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006603.1		NM_003000		T	17371263	G	T	17371263	3	4	131	1	0	0	0	0	1	0	0	0	13988	1000	35	3	677	3	SDHB	1	17371263	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		17371263	231879358	1	9731											
NRAS	4893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	115258748	115258748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcttttcccaacaccacCtgctccaaccaccaccagtt	9	9	4	19	1	0	0	0	0	0	0	2	0	2	0	7	0	4	3	7	0	2	3	rs121913250		TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr1:115258748C>T	ENST00000369535.4	-	2	287	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		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.G12S(133)|p.G12C(81)|p.G12R(18)|p.G12N(2)|p.G12P(1)|p.G12Y(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)		CCAACACCACCTGCTCCAACC	0.493	G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																											p.G12S				Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	NRAS,NS,haematopoietic_neoplasm,+1,861	NRAS	1	861	236	Substitution - Missense(236)	haematopoietic_and_lymphoid_tissue(149)|skin(29)|upper_aerodigestive_tract(21)|large_intestine(13)|thyroid(8)|prostate(6)|lung(4)|soft_tissue(2)|urinary_tract(1)|NS(1)|kidney(1)|pancreas(1)	c.G34A												203	181	189					1																	115258748		2203	4300	6503	SO:0001583	missense	4893	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	CACCACCTGCTCC	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.34G>A	1.37:g.115258748C>T	ENSP00000358548:p.Gly12Ser		208	0	0		196	0.15	30	NM_002524	50	0.32	16	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	36	5.920083	0.97105	.	.	ENSG00000213281	ENST00000369535	T	0.76316	-1.01	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	T	0.73179	0.3554	L	0.37561	1.115	0.80722	D	1	B	0.31581	0.329	B	0.43783	0.431	T	0.74112	-0.3770	10	0.59425	D	0.04	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	S	12	ENSP00000358548:G12S	ENSP00000358548:G12S	G	-	1	0	NRAS	115060271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT			0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033395.2		NM_002524		T	115258748	C	T	115258748	3	4	131	1	0	0	0	0	1	0	0	0	10657	681	24	3	551	3	NRAS	1	115258748	Missense_Mutation	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	97887485	115258748	133991873	2	9732											
OBSCN	84033	hgsc.bcm.edu	37	chr1	228456342	228456342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccagacagaggtgaCgtggtacaaggatgggaaga	13	4	16	8	1	0	4	0	1	0	3	0	6	0	6	2	5	1	1	2	5	3	1	rs374036309		TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr1:228456342C>T	ENST00000422127.1	+	17	5017	c.4973C>T	c.(4972-4974)aCg>aTg	p.T1658M	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.T1842M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1658M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T314M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1658	Ig-like 17.				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)				ACAGAGGTGACGTGGTACAAG	0.667																																					p.T1842M													OBSCN_ENST00000570156,NS,carcinoma,-1,8	OBSCN_ENST00000570156	-1	8	0			c.C5525T							T	MET/THR,MET/THR	1,4111		0,1,2055	62	62	62		4973,4973	2.3	0.7	1		62	0,8384		0,0,4192	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	81,81	0,1,6247	TT,TC,CC		0.0,0.0243,0.0080	probably-damaging,probably-damaging	1658/7969,1658/6621	228456342	1,12495	2056	4192	6248	SO:0001583	missense	84033	exon19			AGGTGACGTGGTA	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.4973C>T	1.37:g.228456342C>T	ENSP00000409493:p.Thr1658Met		102	0	0		98	0.04	4	NM_001271223	1	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	9.609	1.130776	0.21041	2.43E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.68765	-0.35;-0.35;-0.35	5.37	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.512237	0.19035	N	0.124439	T	0.62258	0.2413	M	0.73217	2.22	0.51767	D	0.999931	P;P;P	0.47191	0.818;0.891;0.64	P;P;B	0.45610	0.487;0.466;0.144	T	0.60546	-0.7242	10	0.48119	T	0.1	.	1.9347	0.03334	0.2367:0.4764:0.1226:0.1642	.	1658;104;1658	Q5VST9;Q24JT4;Q5VST9-3	OBSCN_HUMAN;.;.	M	1658;1658;314	ENSP00000284548:T1658M;ENSP00000409493:T1658M;ENSP00000352613:T314M	ENSP00000284548:T1658M	T	+	2	0	OBSCN	226522965	0.000000	0.05858	0.739000	0.30968	0.369000	0.29798	0.172000	0.16704	0.649000	0.30751	-0.320000	0.08662	ACG			0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843		T	228456342	C	T	228456342	3	4	131	1	0	0	0	0	1	0	0	0	10829	536	19	1	5035	1	OBSCN	1	228456342	Missense_Mutation	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	113197594	228456342	20794279	3	9733											
SMYD3	64754	mdanderson.org	37	chr1	246670511	246670511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaacttttccaccttcagCggctccatcctcccgcagct	6	10	7	18	3	1	0	1	0	0	0	5	1	5	0	5	1	3	3	5	1	1	3			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr1:246670511C>T	ENST00000388985.4	-	1	8	c.9G>A	c.(7-9)ccG>ccA	p.P3P	SMYD3_ENST00000490107.1_5'UTR|SMYD3_ENST00000403792.3_Silent_p.P3P			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	3					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CCACCTTCAGCGGCTCCATCC	0.721																																					p.P3P													.	.			0			c.G9A												25	34	31					1																	246670511		692	1591	2283	SO:0001819	synonymous_variant	64754	exon1			CTTCAGCGGCTCC	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	15513	protein-coding gene	gene with protein product		608783	"zinc finger, MYND domain containing 1"	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.9G>A	1.37:g.246670511C>T			51	0	0		76	0.05	4	NM_001167740	16	0	0	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Silent	SNP	ENST00000388985.4	37	CCDS53486.1																																																																																					0.721	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_022743		T	246670511	C	T	246670511	2	4	131	1	0	0	0	0	0	0	0	1	14846	755	27	1		1	SMYD3	1	246670511	Silent	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	18214169	246670511	2580110	4	9734											
CCDC141	285025	mdanderson.org	37	chr2	179702468	179702468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatctgccacctgcacctGccccttgaaaaaagaaaagc	15	6	7	13	0	1	3	0	1	1	2	1	3	1	3	5	0	4	1	5	0	6	1			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr2:179702468G>T	ENST00000420890.2	-	23	3595	c.3478C>A	c.(3478-3480)Cag>Aag	p.Q1160K	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.Q585K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1160										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACCTGCACCTGCCCCTTGAAA	0.448																																					p.Q1160K													.	.			0			c.C3478A												57	61	60					2																	179702468		2203	4300	6503	SO:0001583	missense	285025	exon23			GCACCTGCCCCTT	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3478C>A	2.37:g.179702468G>T	ENSP00000395995:p.Gln1160Lys		74	0	0		69	0.07	5	NM_173648	0		0	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	G	12.03	1.816381	0.32145	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.44482	0.92;1.51;1.51	5.68	4.72	0.59763	.	0.667599	0.13754	N	0.365075	T	0.29588	0.0738	N	0.24115	0.695	0.09310	N	1	B;B	0.23806	0.063;0.091	B;B	0.18561	0.022;0.012	T	0.16660	-1.0395	10	0.40728	T	0.16	-0.637	10.5696	0.45192	0.0:0.1148:0.5552:0.33	.	585;585	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	K	1160;604;585	ENSP00000395995:Q1160K;ENSP00000344627:Q604K;ENSP00000295723:Q585K	ENSP00000295723:Q585K	Q	-	1	0	CCDC141	179410713	0.066000	0.20996	0.005000	0.12908	0.090000	0.18270	1.954000	0.40362	1.150000	0.42419	0.561000	0.74099	CAG			0.448	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_173648		T	179702468	G	T	179702468	3	4	131	1	0	0	0	0	1	0	0	0	2777	1328	46	2	878	2	CCDC141	2	179702468	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		179702468	63496905	5	9735											
DZIP3	9666	bcgsc.ca;mdanderson.org	37	chr3	108392975	108392975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgcttcatctagagcaGactgaaaaggaatgtctcaa	13	11	10	7	0	3	3	2	1	2	2	4	4	3	4	0	2	2	3	0	2	5	3			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr3:108392975G>T	ENST00000361582.3	+	24	2870	c.2640G>T	c.(2638-2640)caG>caT	p.Q880H	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q880H	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	880					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						ATCTAGAGCAGACTGAAAAGG	0.408																																					p.Q880H													.	DZIP3	111		0			c.G2640T												168	164	165					3																	108392975		2203	4299	6502	SO:0001583	missense	9666	exon24			AGAGCAGACTGAA	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.2640G>T	3.37:g.108392975G>T	ENSP00000355028:p.Gln880His		81	0	0		68	0.07	5	NM_014648	84	0	0	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087970	0.55968	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.84442	-1.85;-1.85	4.56	2.77	0.32553	.	0.000000	0.43416	D	0.000565	D	0.85635	0.5742	L	0.38531	1.155	0.31874	N	0.619393	D;D	0.67145	0.99;0.996	D;D	0.74023	0.979;0.982	D	0.83576	0.0115	10	0.49607	T	0.09	-7.6388	6.675	0.23090	0.209:0.0:0.791:0.0	.	498;880	D3DN61;Q86Y13	.;DZIP3_HUMAN	H	880	ENSP00000355028:Q880H;ENSP00000419981:Q880H	ENSP00000355028:Q880H	Q	+	3	2	DZIP3	109875665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.306000	0.33505	0.558000	0.29135	0.563000	0.77884	CAG			0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353968.1		NM_014648		T	108392975	G	T	108392975	3	4	131	1	0	0	0	0	1	0	0	0	4870	933	33	3	2730	3	DZIP3	3	108392975	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		108392975	89629455	6	9736											
SH3TC1	54436	mdanderson.org	37	chr4	8226907	8226907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctcccttgccagactcaGtagaggaagctgagaccgag	10	9	11	11	1	2	3	1	1	1	3	3	6	2	4	3	1	2	2	3	1	2	3			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr4:8226907G>T	ENST00000245105.3	+	11	1316	c.1249G>T	c.(1249-1251)Gta>Tta	p.V417L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.V341L|SH3TC1_ENST00000514274.1_3'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	417										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCCAGACTCAGTAGAGGAAGC	0.577																																					p.V417L	NSCLC(145;2298 2623 35616 37297)												.	.			0			c.G1249T												72	69	70					4																	8226907		2203	4300	6503	SO:0001583	missense	54436	exon11			GACTCAGTAGAGG	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1249G>T	4.37:g.8226907G>T	ENSP00000245105:p.Val417Leu		69	0	0		50	0.06	3	NM_018986	15	0	0	Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.049498	0.00394	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.45276	0.9;0.9	2.2	-3.9	0.04181	.	1.035180	0.07697	N	0.939635	T	0.09642	0.0237	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25847	-1.0120	10	0.02654	T	1	0.1201	4.9857	0.14189	0.0:0.5115:0.2149:0.2736	.	417	Q8TE82	S3TC1_HUMAN	L	155;417;341;246	ENSP00000245105:V417L;ENSP00000441045:V341L	ENSP00000245105:V417L	V	+	1	0	SH3TC1	8277807	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.683000	0.05179	-0.994000	0.03463	-0.521000	0.04368	GTA			0.577	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000206991.2		NM_018986		T	8226907	G	T	8226907	3	4	131	1	0	0	0	0	1	0	0	0	14284	1029	36	3	1287	3	SH3TC1	4	8226907	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		8226907	182927369	7	9737											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599320	55599320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgattttggtctagccagaGacatcaagaatgattctaat	13	13	9	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	5	rs121913506		TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr4:55599320G>C	ENST00000288135.5	+	17	2543	c.2446G>C	c.(2446-2448)Gac>Cac	p.D816H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816H			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,0,932	KIT	0	932	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	c.G2446C												144	146	145					4																	55599320		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GCCAGAGACATCA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>C	4.37:g.55599320G>C	ENSP00000288135:p.Asp816His		63	0	0		80	0.35	28	NM_000222	253	0.4	102	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721319	0.68959	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83837	-1.77;-1.77	5.62	5.62	0.85841	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	0.000011	T	0.80732	0.4679	L	0.49699	1.58	0.80722	D	1	P;B	0.44734	0.842;0.353	B;B	0.38156	0.266;0.154	D	0.83488	0.0068	10	0.72032	D	0.01	.	19.6484	0.95791	0.0:0.0:1.0:0.0	rs28933969	812;816	P10721-2;P10721	.;KIT_HUMAN	H	816;812	ENSP00000288135:D816H;ENSP00000390987:D812H	ENSP00000288135:D816H	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				C	55599320	G	C	55599320	3	2	131	1	0	0	0	0	1	0	0	0	8344	942	33	5	2512	5	KIT	4	55599320	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	47372413	55599320	135554956	8	9738											
CCDC158	339965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	77290777	77290777	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttttgtgtagatcagcCtaaaaaaagagaggaatgct	14	11	9	7	0	1	2	1	0	0	2	2	4	2	3	2	1	2	2	2	1	6	4			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr4:77290777C>T	ENST00000388914.3	-	10	1302		c.e10-1			NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158									p.?(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTAGATCAGCCTAAAAAAAGA	0.393																																					.													CCDC158,NS,carcinoma,0,1	CCDC158	0	1	2	Unknown(2)	lung(2)	c.1150-1G>A												67	65	65					4																	77290777		1891	4124	6015	SO:0001630	splice_region_variant	339965	exon11			ATCAGCCTAAAAA	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1150-1G>A	4.37:g.77290777C>T			82	0	0		79	0.23	18	NM_001042784	0		0	Q8IYQ1|Q8N7D4|Q8N7E3	Splice_Site	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051053	0.36181	.	.	ENSG00000163749	ENST00000388914	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.141	0.86752	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC158	77509801	1.000000	0.71417	0.957000	0.39632	0.186000	0.23388	5.052000	0.64263	2.572000	0.86782	0.585000	0.79938	.			0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362694.2		NM_001042784	Intron	T	77290777	C	T	77290777	5	4	131	1	0	0	0	0	0	0	1	0	2792	695	24	3	2252	3	CCDC158	4	77290777	Splice_Site	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	21691457	77290777	113863499	9	9739											
DMGDH	29958	mdanderson.org	37	chr5	78328619	78328619	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatagagcccactgactcGttgagtcggcctcccagcaa	9	9	10	13	2	0	4	0	3	0	1	3	4	1	4	3	1	2	2	3	1	2	3			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr5:78328619G>T	ENST00000255189.3	-	9	1436	c.1408C>A	c.(1408-1410)Cga>Aga	p.R470R	DMGDH_ENST00000380311.4_Silent_p.R269R|DMGDH_ENST00000540686.1_Silent_p.R90R	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	470					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)		CCACTGACTCGTTGAGTCGGC	0.473																																					p.R470R													.	.			0			c.C1408A												125	129	128					5																	78328619		2203	4300	6503	SO:0001819	synonymous_variant	29958	exon9			TGACTCGTTGAGT	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.1408C>A	5.37:g.78328619G>T			73	0	0		49	0.06	3	NM_013391	2	0	0	B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	CCDS4044.1																																																																																					0.473	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226963.3		NM_013391		T	78328619	G	T	78328619	2	4	131	1	0	0	0	0	0	0	0	1	4586	1153	40	1		1	DMGDH	5	78328619	Silent	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		78328619	102586641	10	9740											
GPR6	2830	mdanderson.org	37	chr6	110300885	110300885	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgcacctcctgcttgcCgccacttggaccgtgtccct	3	10	11	17	3	0	0	0	0	0	0	2	1	2	1	6	2	3	2	6	2	0	2			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr6:110300885C>A	ENST00000275169.3	+	1	588	c.570C>A	c.(568-570)gcC>gcA	p.A190A	GPR6_ENST00000414000.2_Silent_p.A205A	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	190					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TCCTGCTTGCCGCCACTTGGA	0.692																																					p.A190A													.	.			0			c.C570A												25	26	26					6																	110300885		2203	4300	6503	SO:0001819	synonymous_variant	2830	exon1			GCTTGCCGCCACT		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.570C>A	6.37:g.110300885C>A			37	0	0		39	0.08	3	NM_005284	0		0	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	ENST00000275169.3	37	CCDS5079.1																																																																																					0.692	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041774.1				A	110300885	C	A	110300885	2	1	131	1	0	0	0	0	0	0	0	1	6715	639	23	1		1	GPR6	6	110300885	Silent	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10		110300885	60814182	11	9741											
PRKAR2B	5577	broad.mit.edu;mdanderson.org	37	chr7	106799908	106799908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcagcaatggatgtgcaaGcatttgaaaggcttctggga	11	11	12	7	0	2	1	1	1	2	0	3	3	2	3	0	3	3	4	0	3	3	2			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr7:106799908G>T	ENST00000265717.4	+	11	1397	c.1138G>T	c.(1138-1140)Gca>Tca	p.A380S		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	380					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)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|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)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|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)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GGATGTGCAAGCATTTGAAAG	0.358																																					p.A380S													.	PRKAR2B	34		0			c.G1138T												90	82	85					7																	106799908		2203	4300	6503	SO:0001583	missense	5577	exon11			GTGCAAGCATTTG		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.1138G>T	7.37:g.106799908G>T	ENSP00000265717:p.Ala380Ser		80	0	0		128	0.04	5	NM_002736	37	0	0	A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708809	0.89018	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.92805	-3.11	5.86	5.86	0.93980	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	L	0.45744	1.44	0.80722	D	1	D	0.63880	0.993	D	0.80764	0.994	D	0.94168	0.7420	10	0.49607	T	0.09	-5.3992	20.1986	0.98248	0.0:0.0:1.0:0.0	.	380	P31323	KAP3_HUMAN	S	380;380;367	ENSP00000265717:A380S	ENSP00000265717:A380S	A	+	1	0	PRKAR2B	106587144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	2.781000	0.95711	0.650000	0.86243	GCA			0.358	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268386.1				T	106799908	G	T	106799908	3	4	131	1	0	0	0	0	1	0	0	0	12526	971	34	2	1180	2	PRKAR2B	7	106799908	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		106799908	52338755	12	9742											
PLXNA4	91584	broad.mit.edu	37	chr7	131849922	131849922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtagaggaggaaagtaaAccaattggtcagcatcttct	13	11	10	7	0	3	1	1	0	2	1	3	3	3	3	1	3	2	3	1	3	5	5			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr7:131849922A>G	ENST00000359827.3	-	23	5286	c.4324T>C	c.(4324-4326)Ttt>Ctt	p.F1442L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.F1442L			Q9HCM2	PLXA4_HUMAN	plexin A4	1442					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						AGGAAAGTAAACCAATTGGTC	0.522																																					p.F1442L													.	PLXNA4	873		0			c.T4324C												106	117	114					7																	131849922		2179	4279	6458	SO:0001583	missense	91584	exon23			AAGTAAACCAATT	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.4324T>C	7.37:g.131849922A>G	ENSP00000352882:p.Phe1442Leu		61	0	0		62	0.05	3	NM_020911	0		0	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612496	0.87258	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.08984	3.03;3.03	5.8	5.8	0.92144	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	L	0.48260	1.515	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.02491	-1.1151	10	0.21540	T	0.41	.	16.1549	0.81657	1.0:0.0:0.0:0.0	.	1442	Q9HCM2	PLXA4_HUMAN	L	1442	ENSP00000323194:F1442L;ENSP00000352882:F1442L	ENSP00000323194:F1442L	F	-	1	0	PLXNA4	131500462	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.327000	0.79147	2.209000	0.71365	0.533000	0.62120	TTT			0.522	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338422.2		NM_181775		G	131849922	A	G	131849922	3	3	131	1	0	0	0	0	1	0	0	0	12139	43	2	4	1400	4	PLXNA4	7	131849922	Missense_Mutation	SNP	A	TCGA-YU-A90Q-01A-11D-A435-10	25050014	131849922	27288741	13	9743											
XKR9	389668	mdanderson.org	37	chr8	71646414	71646414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgtcttgttattatattGttagggtactgggcactttg	8	18	10	5	0	1	0	0	0	1	0	1	0	1	0	0	2	1	4	0	2	6	8	rs140733779		TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr8:71646414G>T	ENST00000408926.3	+	5	1411	c.877G>T	c.(877-879)Gtt>Ttt	p.V293F	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.V293F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	293						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTATTATATTGTTAGGGTACT	0.328																																					p.V293F													XKR9,NS,carcinoma,0,1	XKR9	0	1	0			c.G877T												90	87	88					8																	71646414		2203	4299	6502	SO:0001583	missense	389668	exon5			TATATTGTTAGGG	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.877G>T	8.37:g.71646414G>T	ENSP00000386141:p.Val293Phe		110	0	0		126	0.04	5	NM_001011720	2	0	0	B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	1.339	-0.594507	0.03771	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.65732	-0.17;-0.17	4.98	2.97	0.34412	.	0.406258	0.26553	N	0.023728	T	0.34571	0.0902	N	0.13140	0.3	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.04522	-1.0945	10	0.20046	T	0.44	-4.2178	1.1338	0.01751	0.1473:0.2355:0.3757:0.2415	.	293	Q5GH70	XKR9_HUMAN	F	293	ENSP00000386141:V293F;ENSP00000431088:V293F	ENSP00000386141:V293F	V	+	1	0	XKR9	71808968	0.070000	0.21116	0.379000	0.26080	0.126000	0.20510	0.314000	0.19432	1.289000	0.44618	0.557000	0.71058	GTT			0.328	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378752.1		NM_001011720		T	71646414	G	T	71646414	3	4	131	1	0	0	0	0	1	0	0	0	17462	1377	48	3	887	3	XKR9	8	71646414	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		71646414	74717608	14	9744											
WISP1	8840	broad.mit.edu	37	chr8	134232843	134232843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggtcggtgtgggctgCgtcctggatggggtgcgcta	3	10	21	7	3	0	0	0	0	0	0	2	2	1	1	1	7	2	2	1	7	1	1			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr8:134232843C>T	ENST00000250160.6	+	3	475	c.369C>T	c.(367-369)tgC>tgT	p.C123C	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	123	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)				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)			GTGTGGGCTGCGTCCTGGATG	0.637																																					p.C123C													.	WISP1	64		0			c.C369T												82	68	73					8																	134232843		2203	4300	6503	SO:0001819	synonymous_variant	8840	exon3			GGGCTGCGTCCTG	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.369C>T	8.37:g.134232843C>T			308	0	0		396	0.02	6	NM_003882	2	0	0	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	CCDS6371.1																																																																																					0.637	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378794.2		NM_003882		T	134232843	C	T	134232843	2	4	131	1	0	0	0	0	0	0	0	1	17396	776	27	1		1	WISP1	8	134232843	Silent	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	62586429	134232843	12131179	15	9745											
SLC39A4	55630	mdanderson.org	37	chr8	145640175	145640175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcaggctccactcagctGctgttggagcagggcagggc	6	7	17	11	0	1	0	1	0	0	0	2	1	2	1	1	5	4	7	1	5	0	1			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr8:145640175G>T	ENST00000301305.3	-	5	1015	c.910C>A	c.(910-912)Cag>Aag	p.Q304K	SLC39A4_ENST00000276833.5_Missense_Mutation_p.Q279K|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	304					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)			CCACTCAGCTGCTGTTGGAGC	0.662																																					p.Q304K													SLC39A4_ENST00000276833,NS,carcinoma,+1,2	SLC39A4_ENST00000276833	1	2	0			c.C910A												52	54	53					8																	145640175		2203	4300	6503	SO:0001583	missense	55630	exon5			TCAGCTGCTGTTG	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.910C>A	8.37:g.145640175G>T	ENSP00000301305:p.Gln304Lys		62	0	0		79	0.05	4	NM_130849	3	0	0	Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257677	0.80246	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.60920	0.15;0.34	4.98	4.98	0.66077	.	0.373720	0.26828	N	0.022284	T	0.60805	0.2297	M	0.62723	1.935	0.34405	D	0.695765	P;D	0.59357	0.808;0.985	B;P	0.47206	0.304;0.541	T	0.75764	-0.3203	10	0.72032	D	0.01	-19.829	13.7934	0.63155	0.0:0.0:1.0:0.0	.	304;279	Q6P5W5;A6NDY5	S39A4_HUMAN;.	K	279;304	ENSP00000276833:Q279K;ENSP00000301305:Q304K	ENSP00000276833:Q279K	Q	-	1	0	SLC39A4	145610983	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.092000	0.57707	2.351000	0.79841	0.543000	0.68304	CAG			0.662	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382688.1				T	145640175	G	T	145640175	3	4	131	1	0	0	0	0	1	0	0	0	14643	1328	46	2	1065	2	SLC39A4	8	145640175	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	11407332	145640175	723847	16	9746											
C9orf5	23731	mdanderson.org	37	chr9	111795757	111795757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaccggccactgccaaGcctgtcaggtaaggatggcc	8	6	12	15	1	1	0	1	0	0	0	2	1	2	1	6	4	2	2	6	4	2	1			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr9:111795757G>T	ENST00000374586.3	-	17	2455	c.2424C>A	c.(2422-2424)ggC>ggA	p.G808G		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	808						integral component of membrane (GO:0016021)											CCACTGCCAAGCCTGTCAGGT	0.438																																					p.G808G													.	.			0			c.C2424A												61	66	64					9																	111795757		1921	4112	6033	SO:0001819	synonymous_variant	23731	exon17			TGCCAAGCCTGTC	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.2424C>A	9.37:g.111795757G>T			55	0	0		52	0.06	3	NM_032012	89	0	0	B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	37	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326591	0.24080	.	.	ENSG00000106771	ENST00000413712	.	.	.	5.42	-0.427	0.12310	.	.	.	.	.	T	0.52058	0.1711	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43475	-0.9389	4	.	.	.	-12.6556	6.8862	0.24202	0.2755:0.2088:0.5157:0.0	.	.	.	.	I	401	.	.	L	-	1	0	C9orf5	110835578	0.992000	0.36948	0.994000	0.49952	0.994000	0.84299	0.201000	0.17276	0.166000	0.19597	0.467000	0.42956	CTT			0.438	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053587.2		NM_032012		T	111795757	G	T	111795757	2	4	131	1	0	0	0	0	0	0	0	1	2488	958	34	2		2	C9orf5	9	111795757	Silent	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		111795757	29417674	17	9747											
C11orf16	56673	mdanderson.org	37	chr11	8947472	8947472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgatgcgcccagtgattgGccctagcagagagcagcaag	11	6	14	10	1	0	3	0	2	0	1	0	4	0	3	2	1	4	3	2	1	2	2			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr11:8947472G>T	ENST00000326053.5	-	5	848	c.742C>A	c.(742-744)Cca>Aca	p.P248T	C11orf16_ENST00000528998.1_5'Flank|C11orf16_ENST00000525780.1_Missense_Mutation_p.P248T	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	248										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CCAGTGATTGGCCCTAGCAGA	0.607																																					p.P248T													.	.			0			c.C742A												67	69	68					11																	8947472		2201	4296	6497	SO:0001583	missense	56673	exon5			TGATTGGCCCTAG	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.742C>A	11.37:g.8947472G>T	ENSP00000318999:p.Pro248Thr		80	0	0		38	0.08	3	NM_020643	0		0	Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	G	1.040	-0.679204	0.03378	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.31247	1.51;1.5	5.8	-2.25	0.06888	.	0.852702	0.10394	N	0.680033	T	0.23330	0.0564	L	0.56769	1.78	0.09310	N	1	B;B	0.23377	0.041;0.084	B;B	0.21917	0.027;0.037	T	0.36986	-0.9725	10	0.59425	D	0.04	-10.3159	1.2981	0.02073	0.305:0.1013:0.3862:0.2076	.	248;248	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	T	248	ENSP00000436818:P248T;ENSP00000318999:P248T	ENSP00000318999:P248T	P	-	1	0	C11orf16	8904048	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.152000	0.16302	-0.404000	0.07610	-0.768000	0.03414	CCA			0.607	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385626.1		NM_020643		T	8947472	G	T	8947472	3	4	131	1	0	0	0	0	1	0	0	0	1633	1203	42	2	669	2	C11orf16	11	8947472	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		8947472	126059044	18	9748											
ATG2A	23130	mdanderson.org	37	chr11	64678133	64678133	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcgcagatgggcgcaGggccgagctgaggcctggga	6	5	21	9	3	0	2	0	1	0	1	0	4	0	3	2	5	1	3	2	5	0	0			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr11:64678133G>T	ENST00000377264.3	-	12	1774	c.1662C>A	c.(1660-1662)ccC>ccA	p.P554P	ATG2A_ENST00000421419.2_Silent_p.P554P	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	554					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						GATGGGCGCAGGGCCGAGCTG	0.687																																					p.P554P													.	.			0			c.C1662A												55	53	54					11																	64678133		2196	4292	6488	SO:0001819	synonymous_variant	23130	exon12			GGCGCAGGGCCGA		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.1662C>A	11.37:g.64678133G>T			27	0	0		29	0.1	3	NM_015104	58	0	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	6.537	0.467262	0.12402	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.97	0.793	0.18632	.	.	.	.	.	T	0.54159	0.1841	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42327	-0.9458	4	.	.	.	.	7.2481	0.26133	0.4041:0.0:0.5959:0.0	.	.	.	.	M	356	.	.	L	-	1	2	ATG2A	64434709	1.000000	0.71417	0.883000	0.34634	0.550000	0.35303	0.874000	0.28065	-0.044000	0.13491	-0.448000	0.05591	CTG			0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000143224.1		NM_015104		T	64678133	G	T	64678133	2	4	131	1	0	0	0	0	0	0	0	1	1093	987	35	3		3	ATG2A	11	64678133	Silent	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	55730661	64678133	70328383	19	9749											
B3GNT1	11041	mdanderson.org	37	chr11	66114323	66114323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccacagcccctcgctggGcaccatgtccacatcgatca	8	8	7	18	2	2	0	1	0	1	0	6	1	3	0	5	1	1	2	5	1	0	0			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr11:66114323G>T	ENST00000311181.4	-	1	840	c.694C>A	c.(694-696)Ccc>Acc	p.P232T	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	232					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)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCCTCGCTGGGCACCATGTCC	0.607																																					p.P232T													.	.			0			c.C694A												64	65	64					11																	66114323		2200	4295	6495	SO:0001583	missense	11041	exon1			CGCTGGGCACCAT	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.694C>A	11.37:g.66114323G>T	ENSP00000309096:p.Pro232Thr		66	0	0		44	0.07	3	NM_006876	31	0	0	Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022783	0.75275	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.26810	1.71	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66634	-0.5874	10	0.56958	D	0.05	-25.9009	16.7806	0.85562	0.0:0.0:1.0:0.0	.	232	O43505	B3GN1_HUMAN	T	232;3	ENSP00000309096:P232T	ENSP00000309096:P232T	P	-	1	0	B3GNT1	65870899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.263000	0.78421	2.577000	0.86979	0.462000	0.41574	CCC			0.607	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392959.1		NM_006876		T	66114323	G	T	66114323	3	4	131	1	0	0	0	0	1	0	0	0	1256	1203	42	2	561	2	B3GNT1	11	66114323	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	1436190	66114323	68892193	20	9750											
GRIN2B	2904	mdanderson.org	37	chr12	13716591	13716591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttctcccaaggtgcaGgtaccccgctgaccacgccg	6	8	11	16	3	2	1	0	1	2	0	3	1	2	1	5	3	2	4	5	3	2	3			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr12:13716591G>T	ENST00000609686.1	-	13	3790	c.3581C>A	c.(3580-3582)cCt>cAt	p.P1194H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1194					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)	CCAAGGTGCAGGTACCCCGCT	0.627																																					p.P1194H													GRIN2B,NS,carcinoma,-1,1	GRIN2B	-1	1	0			c.C3581A												107	108	108					12																	13716591		2203	4300	6503	SO:0001583	missense	2904	exon13			GGTGCAGGTACCC		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.3581C>A	12.37:g.13716591G>T	ENSP00000477455:p.Pro1194His		41	0	0		43	0.07	3	NM_000834	0		0	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.346679	0.01266	.	.	ENSG00000150086	ENST00000279593	T	0.10668	2.85	5.03	4.13	0.48395	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.076435	0.52532	D	0.000068	T	0.07234	0.0183	N	0.08118	0	0.34311	D	0.685514	B	0.30727	0.292	B	0.39258	0.295	T	0.37934	-0.9684	10	0.15066	T	0.55	.	12.2126	0.54388	0.0796:0.0:0.9204:0.0	.	1194	Q13224	NMDE2_HUMAN	H	1194	ENSP00000279593:P1194H	ENSP00000279593:P1194H	P	-	2	0	GRIN2B	13607858	1.000000	0.71417	0.858000	0.33744	0.019000	0.09904	5.773000	0.68898	1.245000	0.43885	-0.150000	0.13652	CCT			0.627	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268014.2				T	13716591	G	T	13716591	3	4	131	1	0	0	0	0	1	0	0	0	6795	1000	35	3	877	3	GRIN2B	12	13716591	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		13716591	120135304	21	9751											
SMARCD1	6602	hgsc.bcm.edu	37	chr12	50492743	50492743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttaggtgcagcagagacGacaagaattagagcaagccc	14	6	11	10	1	0	3	0	0	0	3	1	5	1	3	2	1	4	3	2	1	5	2			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr12:50492743G>T	ENST00000394963.4	+	13	1906	c.1508G>T	c.(1507-1509)cGa>cTa	p.R503L	SMARCD1_ENST00000381513.4_Missense_Mutation_p.R462L|SMARCD1_ENST00000548573.1_Missense_Mutation_p.R301L	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CAGCAGAGACGACAAGAATTA	0.507																																					p.R503L													.	.			0			c.G1508T												119	114	116					12																	50492743		2203	4300	6503	SO:0001583	missense	6602	exon13			AGAGACGACAAGA	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.1508G>T	12.37:g.50492743G>T	ENSP00000378414:p.Arg503Leu		83	0	0		96	0.04	4	NM_003076	262	0	0		Missense_Mutation	SNP	ENST00000394963.4	37	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788950	0.90367	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000542914;ENST00000548573	T;T	0.55760	0.5;0.55	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.81914	0.993;0.995;0.944	T	0.77800	-0.2452	10	0.87932	D	0	-0.3202	20.1044	0.97886	0.0:0.0:1.0:0.0	.	301;462;503	F8VRQ4;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	L	503;462;279;301	ENSP00000378414:R503L;ENSP00000370924:R462L	ENSP00000370924:R462L	R	+	2	0	SMARCD1	48779010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.843000	0.99491	2.837000	0.97791	0.591000	0.81541	CGA			0.507	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316759.2		NM_003076		T	50492743	G	T	50492743	3	4	131	1	0	0	0	0	1	0	0	0	14800	1058	37	1	1558	1	SMARCD1	12	50492743	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	36776152	50492743	83359152	22	9752											
AAAS	8086	broad.mit.edu;bcgsc.ca	37	chr12	53702803	53702804	+	Splice_Site	DEL	CT	CT	-																															ccacatctgggcctcccagaCtctgagccagagaaaagcaa																										TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr12:53702803_53702804delCT	ENST00000209873.4	-	10	1101_1102	c.936_937delAG	c.(934-939)cgagtc>cgtc	p.V313fs	AAAS_ENST00000394384.3_Splice_Site_p.V280fs|AAAS_ENST00000550286.1_Splice_Site_p.V189fs|AAAS_ENST00000549983.1_5'Flank	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	313					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GCCTCCCAGACTCTGAGCCAGA	0.52																																					p.312_313del													.	AAAS	46		0			c.936_937del																																									SO:0001630	splice_region_variant	8086	exon10			CCCAGACTCTGAG	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.936-1AG>-	12.37:g.53702805_53702806delCT			62	0	0		72	0.13	9	NM_015665	159	0	0	Q5JB47|Q9NWI6|Q9UG19	Splice_Site	DEL	ENST00000209873.4	37	CCDS8856.1																																																																																					0.52	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405632.1			Frame_Shift_Del	-	53702804	CT	-	53702803	8	5	131	1	0	1	0	1	0	0	1	0	8	579	20	0	731	0	AAAS	12	53702803	Splice_Site	DEL	CT	TCGA-YU-A90Q-01A-11D-A435-10	3210060	53702803	80149092	23	9753											
TIMELESS	8914	broad.mit.edu	37	chr12	56817448	56817448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcctcctcctcctcCtcttcttcttcctctgcccc	0	17	1	23	0	5	0	0	0	5	0	12	0	12	0	9	0	1	0	9	0	0	4			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr12:56817448C>T	ENST00000553532.1	-	17	2160	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	TIMELESS_ENST00000229201.4_Silent_p.E669E|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.E670E(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						cctcctcctcctcttcttctt	0.527																																					p.E670E													TIMELESS,NS,carcinoma,0,1	TIMELESS	107	1	1	Substitution - coding silent(1)	kidney(1)	c.G2010A												51	49	50					12																	56817448		2203	4300	6503	SO:0001819	synonymous_variant	8914	exon17			CTCCTCCTCTTCT	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2010G>A	12.37:g.56817448C>T			66	0.0151515152	1		97	0.04	4	NM_003920	121	0.01	1		Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																					0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000409771.1		NM_003920		T	56817448	C	T	56817448	2	4	131	1	0	0	0	0	0	0	0	1	15927	680	24	3		3	TIMELESS	12	56817448	Silent	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	3114645	56817448	77034447	24	9754											
POC1B	282809	mdanderson.org	37	chr12	89885738	89885738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgtacccagtgtgtatGtcgatacaaggaatacagga	14	8	11	8	2	0	0	0	0	0	0	1	3	0	2	1	2	4	2	1	2	6	4			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr12:89885738G>T	ENST00000313546.3	-	4	555	c.427C>A	c.(427-429)Cat>Aat	p.H143N	POC1B_ENST00000549035.1_Missense_Mutation_p.H101N|POC1B_ENST00000541909.1_Missense_Mutation_p.H13N|POC1B_ENST00000393179.4_Missense_Mutation_p.H13N|POC1B_ENST00000549504.1_Missense_Mutation_p.H13N|POC1B_ENST00000378528.2_Missense_Mutation_p.H13N	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	143					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						CAGTGTGTATGTCGATACAAG	0.413																																					p.H143N													.	.			0			c.C427A												130	124	126					12																	89885738		2203	4300	6503	SO:0001583	missense	282809	exon4			GTGTATGTCGATA	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.427C>A	12.37:g.89885738G>T	ENSP00000323302:p.His143Asn		46	0	0		71	0.06	4	NM_172240	6	0	0	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181986	0.78677	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000378528;ENST00000549035;ENST00000541909;ENST00000549504	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.66	5.66	0.87406	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	0.92753	0.7696	M	0.93720	3.45	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93967	0.7246	10	0.72032	D	0.01	.	19.3361	0.94319	0.0:0.0:1.0:0.0	.	143	Q8TC44	POC1B_HUMAN	N	13;143;13;101;13;13	ENSP00000376877:H13N;ENSP00000323302:H143N;ENSP00000367789:H13N;ENSP00000447916:H101N;ENSP00000440301:H13N	ENSP00000323302:H143N	H	-	1	0	POC1B	88409869	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.608000	0.98331	2.676000	0.91093	0.467000	0.42956	CAT			0.413	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406637.1		NM_172240		T	89885738	G	T	89885738	3	4	131	1	0	0	0	0	1	0	0	0	12193	1377	48	3	1045	3	POC1B	12	89885738	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	33068290	89885738	43966157	25	9755											
CHFR	55743	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	133424713	133424713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgttgttcagcacgccGtccagacacttgtcacccag	7	11	9	14	2	2	1	2	0	0	1	3	1	3	1	3	0	1	4	3	0	0	4	rs372404283		TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr12:133424713G>A	ENST00000432561.2	-	14	1714	c.1641C>T	c.(1639-1641)gaC>gaT	p.D547D	CHFR_ENST00000541341.1_De_novo_Start_OutOfFrame|CHFR_ENST00000537522.1_Silent_p.D169D|CHFR_ENST00000266880.7_Silent_p.D546D|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Silent_p.D535D|CHFR_ENST00000315585.7_Silent_p.D506D|CHFR_ENST00000443047.2_Silent_p.D455D			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	547					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCAGCACGCCGTCCAGACACT	0.557																																					p.D547D													.	.			0			c.C1641T												113	93	100					12																	133424713		2203	4300	6503	SO:0001819	synonymous_variant	55743	exon14			CACGCCGTCCAGA	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1641C>T	12.37:g.133424713G>A			109	0	0		135	0.04	6	NM_001161344	54	0.02	1	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Silent	SNP	ENST00000432561.2	37	CCDS53849.1																																																																																					0.557	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397130.2				A	133424713	G	A	133424713	2	1	131	1	0	0	0	0	0	0	0	1	3339	1136	40	1		1	CHFR	12	133424713	Silent	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	43538975	133424713	427182	26	9756											
MTMR6	9107	mdanderson.org	37	chr13	25840300	25840300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcatcagacaactgccaGtgtgagtttggcactcccat	9	11	10	11	0	1	2	1	1	0	1	2	2	2	2	2	2	2	3	2	2	1	2			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr13:25840300G>T	ENST00000381801.5	-	4	1190	c.429C>A	c.(427-429)caC>caA	p.H143Q	MTMR6_ENST00000540661.1_Missense_Mutation_p.H143Q	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	143	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		ACAACTGCCAGTGTGAGTTTG	0.438																																					p.H143Q													.	.			0			c.C429A												100	88	92					13																	25840300		2203	4300	6503	SO:0001583	missense	9107	exon4			CTGCCAGTGTGAG	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.429C>A	13.37:g.25840300G>T	ENSP00000371221:p.His143Gln		62	0	0		41	0.07	3	NM_004685	9	0	0	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	G	8.693	0.907837	0.17833	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.92199	-2.99;-2.99	5.74	4.02	0.46733	Myotubularin phosphatase domain (1);	0.366807	0.35124	N	0.003434	T	0.76097	0.3940	N	0.01219	-0.95	0.28571	N	0.910611	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62793	-0.6779	10	0.11794	T	0.64	.	12.2683	0.54691	0.1366:0.0:0.8634:0.0	.	143;143	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	Q	143	ENSP00000443161:H143Q;ENSP00000371221:H143Q	ENSP00000371221:H143Q	H	-	3	2	MTMR6	24738300	1.000000	0.71417	0.988000	0.46212	0.489000	0.33432	1.315000	0.33608	0.788000	0.33755	0.650000	0.86243	CAC			0.438	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044225.1		NM_004685		T	25840300	G	T	25840300	3	4	131	1	0	0	0	0	1	0	0	0	9963	1020	36	3	1480	3	MTMR6	13	25840300	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		25840300	89329578	27	9757											
FARP1	10160	mdanderson.org	37	chr13	99093031	99093031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcggcaacacaatggtgCacgtgtgctggcaccgcaac	10	5	12	14	4	0	0	0	0	0	0	0	0	0	0	2	3	4	5	2	3	3	0			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr13:99093031C>T	ENST00000319562.6	+	24	3002	c.2737C>T	c.(2737-2739)Cac>Tac	p.H913Y	FARP1_ENST00000376586.2_Missense_Mutation_p.H944Y|FARP1_ENST00000595437.1_Missense_Mutation_p.H944Y	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	913					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)			CACAATGGTGCACGTGTGCTG	0.647																																					p.H913Y													.	.			0			c.C2737T												51	41	44					13																	99093031		2202	4299	6501	SO:0001583	missense	10160	exon24			ATGGTGCACGTGT	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.2737C>T	13.37:g.99093031C>T	ENSP00000322926:p.His913Tyr		49	0	0		36	0.08	3	NM_005766	25	0	0	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310660	0.95629	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.12672	2.66;2.66	5.43	5.43	0.79202	.	0.109057	0.64402	D	0.000007	T	0.43188	0.1236	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.98;0.999	T	0.41556	-0.9502	10	0.87932	D	0	.	19.2581	0.93955	0.0:1.0:0.0:0.0	.	913;944	Q9Y4F1;C9JME2	FARP1_HUMAN;.	Y	944;913	ENSP00000365771:H944Y;ENSP00000322926:H913Y	ENSP00000322926:H913Y	H	+	1	0	FARP1	97891032	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.813000	0.86123	2.547000	0.85894	0.655000	0.94253	CAC			0.647	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045541.3		NM_005766		T	99093031	C	T	99093031	3	4	131	1	0	0	0	0	1	0	0	0	5689	710	25	2	3050	2	FARP1	13	99093031	Missense_Mutation	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	73252731	99093031	16076847	28	9758											
TMEM55B	90809	mdanderson.org	37	chr14	20928916	20928916	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgatcataggggcactCccactgtccgggctagttaa	9	9	12	11	1	1	1	1	1	0	0	3	1	3	1	2	4	0	3	2	4	3	3	rs149796661		TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr14:20928916C>A	ENST00000250489.4	-	2	517	c.231G>T	c.(229-231)ggG>ggT	p.G77G	TMEM55B_ENST00000398020.4_Silent_p.G84G|TMEM55B_ENST00000554028.1_5'Flank			Q86T03	TM55B_HUMAN	transmembrane protein 55B	77	Pro-rich.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		TAGGGGCACTCCCACTGTCCG	0.567																																					p.G84G													TMEM55B,NS,carcinoma,-2,1	TMEM55B	-2	1	0			c.G252T												122	117	119					14																	20928916		2203	4300	6503	SO:0001819	synonymous_variant	90809	exon2			GGCACTCCCACTG	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"chromosome 14 open reading frame 9"	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.231G>T	14.37:g.20928916C>A			50	0	0		42	0.07	3	NM_001100814	63	0	0	B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Silent	SNP	ENST00000250489.4	37	CCDS9551.1																																																																																					0.567	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000073643.3		NM_144568		A	20928916	C	A	20928916	2	1	131	1	0	0	0	0	0	0	0	1	16205	842	30	3		3	TMEM55B	14	20928916	Silent	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10		20928916	86420624	29	9759											
LRRK1	79705	mdanderson.org	37	chr15	101593438	101593438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctggcagacaccatgctGaggcacctgcgggccaccga	8	5	12	16	2	0	2	0	1	0	1	1	3	1	2	5	3	2	3	5	3	0	0			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr15:101593438G>A	ENST00000388948.3	+	26	4226	c.3867G>A	c.(3865-3867)ctG>ctA	p.L1289L	LRRK1_ENST00000284395.5_Silent_p.L1286L|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACACCATGCTGAGGCACCTGC	0.652																																					p.L1289L													.	.			0			c.G3867A												40	46	44					15																	101593438		2165	4264	6429	SO:0001819	synonymous_variant	79705	exon26			CATGCTGAGGCAC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3867G>A	15.37:g.101593438G>A			18	0	0		11	0.18	2	NM_024652	0		0		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																					0.652	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384567.2		NM_024652		A	101593438	G	A	101593438	2	1	131	1	0	0	0	0	0	0	0	1	9048	1277	45	3		3	LRRK1	15	101593438	Silent	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		101593438	937954	30	9760											
COG7	91949	broad.mit.edu	37	chr16	23415150	23415150	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggttgtggttgcttgacccTttttcctaagacaagaaaat	11	14	9	7	0	0	3	0	1	0	2	1	3	1	3	2	2	1	3	2	2	4	6			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr16:23415150T>C	ENST00000307149.5	-	13	1853	c.1668A>G	c.(1666-1668)aaA>aaG	p.K556K		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	556					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)		TGCTTGACCCTTTTTCCTAAG	0.507																																					p.K556K													.	COG7	62		0			c.A1668G												69	59	63					16																	23415150		2197	4300	6497	SO:0001819	synonymous_variant	91949	exon13			TGACCCTTTTTCC	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.1668A>G	16.37:g.23415150T>C			94	0	0		66	0.05	3	NM_153603	26	0	0	Q6UWU7	Silent	SNP	ENST00000307149.5	37	CCDS10610.1																																																																																					0.507	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211625.1				C	23415150	T	C	23415150	2	2	131	1	0	0	0	0	0	0	0	1	3665	1606	56	4		4	COG7	16	23415150	Silent	SNP	T	TCGA-YU-A90Q-01A-11D-A435-10		23415150	66939603	31	9761											
RRAD	6236	mdanderson.org	37	chr16	66956208	66956208	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtggtgcaatgccgctGatgtctcaatgaacttgcag	9	12	11	9	1	1	2	1	2	1	0	2	2	1	2	1	1	4	3	1	1	3	2			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr16:66956208G>T	ENST00000299759.6	-	5	948	c.698C>A	c.(697-699)tCa>tAa	p.S233*	RRAD_ENST00000420652.1_Nonsense_Mutation_p.S233*			P55042	RAD_HUMAN	Ras-related associated with diabetes	233					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CAATGCCGCTGATGTCTCAAT	0.587																																					p.S233X													.	.			0			c.C698A												75	65	68					16																	66956208		2200	4300	6500	SO:0001587	stop_gained	6236	exon5			GCCGCTGATGTCT	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.698C>A	16.37:g.66956208G>T	ENSP00000299759:p.Ser233*		56	0	0		39	0.08	3	NM_004165	14	0	0	Q96F39	Nonsense_Mutation	SNP	ENST00000299759.6	37	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519826	0.85495	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.328	0.98708	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000299759:S233X	S	-	2	0	RRAD	65513709	1.000000	0.71417	0.100000	0.21137	0.278000	0.26855	9.471000	0.97696	2.802000	0.96397	0.561000	0.74099	TCA			0.587	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268830.1		NM_004165		T	66956208	G	T	66956208	4	4	131	1	0	0	0	0	0	1	0	0	13694	1294	45	3	232	3	RRAD	16	66956208	Nonsense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	43541058	66956208	23398545	32	9762											
KRTAP4-4	84616	mdanderson.org	37	chr17	39316640	39316640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgcagcagctggggcGgcagcaggtggtcctacagc	6	5	18	12	1	0	0	0	0	0	0	1	0	1	0	2	6	6	5	2	6	1	1	rs73983195	byFrequency	TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr17:39316640G>T	ENST00000390661.3	-	1	343	c.304C>A	c.(304-306)Cgc>Agc	p.R102S		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	102	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)		p.R102C(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.662																																					p.R102S													KRTAP4-4,colon,carcinoma,0,1	KRTAP4-4	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C304A												40	48	45					17																	39316640		2200	4297	6497	SO:0001583	missense	84616	exon1			TGGGGCGGCAGCA	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"Keratin associated proteins"	16928	protein-coding gene	gene with protein product			"keratin associated protein 4-13"	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.304C>A	17.37:g.39316640G>T	ENSP00000375076:p.Arg102Ser		52	0	0		45	0.07	3	NM_032524	0		0	Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	12.60	1.986211	0.35036	.	.	ENSG00000171396	ENST00000390661	T	0.01313	5.02	5.47	-10.9	0.00192	.	3.094940	0.03345	U	0.195326	T	0.02230	0.0069	M	0.86502	2.82	0.09310	N	1	B	0.29936	0.262	B	0.20384	0.029	T	0.43798	-0.9369	10	0.10111	T	0.7	.	11.4363	0.50070	0.0:0.1129:0.4846:0.4025	.	102	Q9BYR3	KRA44_HUMAN	S	102	ENSP00000375076:R102S	ENSP00000375076:R102S	R	-	1	0	KRTAP4-4	36570166	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.033000	0.01425	-1.585000	0.01634	-0.867000	0.03001	CGC			0.662	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257291.1				T	39316640	G	T	39316640	3	4	131	1	0	0	0	0	1	0	0	0	8568	1116	39	1	200	1	KRTAP4-4	17	39316640	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		39316640	41878570	33	9763											
ATP6V0A1	535	hgsc.bcm.edu	37	chr17	40653235	40653235	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaattcagtgtttcctGgtagtggttgcactactgtg	9	14	12	6	0	1	0	1	0	0	0	2	1	2	1	1	3	2	4	1	3	4	5			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr17:40653235G>T	ENST00000343619.4	+	17	2040	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	ATP6V0A1_ENST00000585525.1_Silent_p.L596L|ATP6V0A1_ENST00000393829.2_Silent_p.L639L|ATP6V0A1_ENST00000537728.1_Silent_p.L596L|ATP6V0A1_ENST00000546249.1_Silent_p.L639L|ATP6V0A1_ENST00000264649.6_Silent_p.L646L|ATP6V0A1_ENST00000544137.1_Silent_p.L285L	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	639					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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGTGTTTCCTGGTAGTGGTTG	0.418																																					p.L646L													.	.			0			c.G1938T												266	234	245					17																	40653235		2203	4300	6503	SO:0001819	synonymous_variant	535	exon17			TTTCCTGGTAGTG	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1917G>T	17.37:g.40653235G>T			101	0	0		95	0.05	5	NM_001130020	41	0	0	B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	CCDS45684.1																																																																																					0.418	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000450364.1		NM_001130020		T	40653235	G	T	40653235	2	4	131	1	0	0	0	0	0	0	0	1	1168	1335	47	3		3	ATP6V0A1	17	40653235	Silent	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	1336595	40653235	40541975	34	9764											
CCDC56	28958	broad.mit.edu	37	chr17	40950543	40950543	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgttccgggttcgccGccgtggtaggaccttctgcc	4	10	13	14	5	1	0	0	0	1	0	3	2	2	1	5	3	1	3	5	3	1	4			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr17:40950543G>T	ENST00000328434.7	-	1	179	c.157C>A	c.(157-159)Cgg>Agg	p.R53R	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_001040431.1	NP_001035521.1	Q9Y2R0	COA3_HUMAN	cytochrome c oxidase assembly factor 3	53					mitochondrial respiratory chain complex IV assembly (GO:0033617)|positive regulation of mitochondrial translation (GO:0070131)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)											CGGGTTCGCCGCCGTGGTAGG	0.622																																					p.R53R													.	.			0			c.C157A												58	58	58					17																	40950543		2203	4300	6503	SO:0001819	synonymous_variant	28958	exon1			TTCGCCGCCGTGG	AF070665	CCDS32660.1	17q21.31	2014-01-28	2012-10-15	2012-08-07				"Mitochondrial respiratory chain complex assembly factors"	24990	protein-coding gene	gene with protein product		614775	"coiled-coil domain containing 56"	CCDC56		22356826, 22610097	Standard	NM_001040431		Approved	HSPC009, MITRAC12	uc010wgz.2	Q9Y2R0		ENST00000328434.7:c.157C>A	17.37:g.40950543G>T			60	0	0		59	0.05	3	NM_001040431	74	0	0	A8K498	Silent	SNP	ENST00000328434.7	37	CCDS32660.1																																																																																					0.622	COA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452397.1		NM_014019		T	40950543	G	T	40950543	2	4	131	1	0	0	0	0	0	0	0	1	2828	1086	38	1		1	CCDC56	17	40950543	Silent	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	297308	40950543	40244667	35	9765											
ZNF397	84307	mdanderson.org	37	chr18	32825534	32825534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaccttatagatgtgatGtatgtgggcacagcttcaag	12	11	12	6	0	1	3	1	1	0	2	1	4	1	3	1	1	1	3	1	1	4	4			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr18:32825534G>T	ENST00000330501.7	+	4	1018	c.865G>T	c.(865-867)Gta>Tta	p.V289L	ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	289					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(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						TAGATGTGATGTATGTGGGCA	0.423																																					p.V289L													.	.			0			c.G865T												67	65	66					18																	32825534		692	1591	2283	SO:0001583	missense	84307	exon4			TGTGATGTATGTG	BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"-", "Zinc fingers, C2H2-type"	18818	protein-coding gene	gene with protein product		609601	"zinc finger protein 47"	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.865G>T	18.37:g.32825534G>T	ENSP00000331577:p.Val289Leu		95	0	0		51	0.06	3	NM_001135178	47	0	0	Q9BRM2	Missense_Mutation	SNP	ENST00000330501.7	37	CCDS45852.1	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639228	0.14386	.	.	ENSG00000186812	ENST00000330501	T	0.09163	3.01	3.9	-0.0657	0.13767	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.568974	0.13224	N	0.404194	T	0.06188	0.0160	N	0.20574	0.59	0.09310	N	1	B	0.13145	0.007	B	0.17098	0.017	T	0.43278	-0.9401	9	.	.	.	.	7.7403	0.28837	0.3898:0.0:0.6102:0.0	.	289	Q8NF99	ZN397_HUMAN	L	289	ENSP00000331577:V289L	.	V	+	1	0	ZNF397	31079532	0.000000	0.05858	0.811000	0.32455	0.973000	0.67179	0.239000	0.18023	-0.128000	0.11641	0.305000	0.20034	GTA			0.423	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442398.1		NM_032347		T	32825534	G	T	32825534	3	4	131	1	0	0	0	0	1	0	0	0	17906	1377	48	3	875	3	ZNF397	18	32825534	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		32825534	45251714	36	9766											
NANOS3	342977	mdanderson.org	37	chr19	13988167	13988167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgagcccccagccagaGccagagccaatgctggagcc	10	3	13	15	0	0	3	0	1	0	2	0	4	0	4	6	2	6	2	6	2	1	0			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr19:13988167G>A	ENST00000397555.2	+	1	105	c.105G>A	c.(103-105)gaG>gaA	p.E35E	MIR181C_ENST00000384881.1_RNA|MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_Silent_p.E35E	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	35					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)			CCCAGCCAGAGCCAGAGCCAA	0.632																																					p.E35E													.	.			0			c.G105A												54	66	62					19																	13988167		2197	4298	6495	SO:0001819	synonymous_variant	342977	exon1			GCCAGAGCCAGAG	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.105G>A	19.37:g.13988167G>A			30	0	0		29	0.1	3	NM_001098622	916	0	0	Q495E5	Silent	SNP	ENST00000397555.2	37																																																																																						0.632	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				XM_292819		A	13988167	G	A	13988167	2	1	131	1	0	0	0	0	0	0	0	1	10169	962	34	2		2	NANOS3	19	13988167	Silent	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		13988167	45140816	37	9767											
NFATC2	4773	mdanderson.org	37	chr20	50049078	50049078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgctccgctggtagagtaCggccgctgggttctgttgct	3	13	14	11	3	1	1	0	0	1	1	2	1	2	1	2	3	3	8	2	3	2	5			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr20:50049078C>T	ENST00000396009.3	-	9	2467	c.2248G>A	c.(2248-2250)Gta>Ata	p.V750I	NFATC2_ENST00000609507.1_Missense_Mutation_p.V531I|NFATC2_ENST00000414705.1_Missense_Mutation_p.V730I|NFATC2_ENST00000610033.1_Missense_Mutation_p.V531I|NFATC2_ENST00000609943.1_Missense_Mutation_p.V730I|NFATC2_ENST00000371564.3_Missense_Mutation_p.V750I	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	750					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGGTAGAGTACGGCCGCTGGG	0.697																																					p.V750I													NFATC2,colon,carcinoma,0,1	NFATC2	0	1	0			c.G2248A												18	21	20					20																	50049078		2202	4300	6502	SO:0001583	missense	4773	exon9			AGAGTACGGCCGC	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.2248G>A	20.37:g.50049078C>T	ENSP00000379330:p.Val750Ile		40	0	0		32	0.09	3	NM_012340	0		0	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856388	0.32791	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.15834	2.39;2.39;2.4	5.45	5.45	0.79879	.	0.138929	0.47455	D	0.000226	T	0.12902	0.0313	L	0.34521	1.04	0.32230	N	0.574045	B;P;B;P	0.39157	0.355;0.662;0.119;0.555	B;B;B;B	0.28784	0.053;0.094;0.012;0.088	T	0.08889	-1.0700	10	0.21540	T	0.41	-24.6526	18.8911	0.92403	0.0:1.0:0.0:0.0	.	730;730;750;750	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	I	750;750;730	ENSP00000360619:V750I;ENSP00000379330:V750I;ENSP00000396471:V730I	ENSP00000360619:V750I	V	-	1	0	NFATC2	49482485	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	4.657000	0.61490	2.563000	0.86464	0.650000	0.86243	GTA			0.697	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079730.2		NM_012340		T	50049078	C	T	50049078	3	4	131	1	0	0	0	0	1	0	0	0	10379	536	19	1	585	1	NFATC2	20	50049078	Missense_Mutation	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10		50049078	12976442	38	9768											
ZNF831	128611	mdanderson.org	37	chr20	57767022	57767022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagccgtgcgccctgcaGcggcagcaggcgacggcagc	7	2	18	14	5	0	0	0	0	0	0	0	2	0	1	2	4	6	4	2	4	1	0			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr20:57767022G>T	ENST00000371030.2	+	1	948	c.948G>T	c.(946-948)caG>caT	p.Q316H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	316							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCGCCCTGCAGCGGCAGCAGG	0.711																																					p.Q316H													.	.			0			c.G948T												12	16	15					20																	57767022		1701	3874	5575	SO:0001583	missense	128611	exon1			CCTGCAGCGGCAG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.948G>T	20.37:g.57767022G>T	ENSP00000360069:p.Gln316His		26	0	0		21	0.14	3	NM_178457	0		0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076345	0.55753	.	.	ENSG00000124203	ENST00000371030	T	0.10860	2.83	5.2	0.953	0.19590	.	.	.	.	.	T	0.24699	0.0599	M	0.68593	2.085	0.27377	N	0.95554	D	0.89917	1.0	D	0.71184	0.972	T	0.05468	-1.0883	9	0.72032	D	0.01	-2.6347	5.7576	0.18182	0.2728:0.1545:0.5727:0.0	.	316	Q5JPB2	ZN831_HUMAN	H	316	ENSP00000360069:Q316H	ENSP00000360069:Q316H	Q	+	3	2	ZNF831	57200417	0.969000	0.33509	1.000000	0.80357	0.776000	0.43924	0.223000	0.17719	0.551000	0.29008	0.655000	0.94253	CAG			0.711	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000079916.2		NM_178457		T	57767022	G	T	57767022	3	4	131	1	0	0	0	0	1	0	0	0	18208	962	34	2	950	2	ZNF831	20	57767022	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	7717944	57767022	5258498	39	9769											
STMN3	50861	mdanderson.org	37	chr20	62275591	62275591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtactggtagacggtattggGgtgcggctgtgtgtagaagc	7	11	18	5	2	0	2	0	0	0	2	0	2	0	2	0	5	3	5	0	5	5	5			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr20:62275591G>T	ENST00000370053.1	-	2	172	c.91C>A	c.(91-93)Ccc>Acc	p.P31T	STMN3_ENST00000540534.1_Missense_Mutation_p.P20T	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	31					cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			ACGGTATTGGGGTGCGGCTGT	0.637																																					p.P31T													.	.			0			c.C91A												155	123	134					20																	62275591		2203	4300	6503	SO:0001583	missense	50861	exon2			TATTGGGGTGCGG	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.91C>A	20.37:g.62275591G>T	ENSP00000359070:p.Pro31Thr		35	0	0		18	0.11	2	NM_015894	34	0	0	B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	37	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545785	0.27652	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	4.2	2.14	0.27477	.	0.000000	0.64402	U	0.000008	T	0.43366	0.1244	L	0.57536	1.79	0.33696	D	0.613871	B	0.27498	0.18	B	0.14578	0.011	T	0.49615	-0.8921	9	0.17832	T	0.49	-25.8329	12.3027	0.54884	0.0:0.0:0.6913:0.3087	.	31	Q9NZ72	STMN3_HUMAN	T	31;20	.	ENSP00000359070:P31T	P	-	1	0	STMN3	61746035	1.000000	0.71417	0.896000	0.35187	0.597000	0.36814	2.194000	0.42668	0.216000	0.20781	0.313000	0.20887	CCC			0.637	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080163.1		NM_015894		T	62275591	G	T	62275591	3	4	131	1	0	0	0	0	1	0	0	0	15333	1232	43	3	467	3	STMN3	20	62275591	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	4508569	62275591	749929	40	9770											
SON	6651	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr21	34923420	34923420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggcagcctctggcaacagGggtgctggagttgccagggc	6	6	19	10	0	1	0	0	0	1	0	1	1	1	1	2	7	4	4	2	7	1	1			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr21:34923420G>T	ENST00000356577.4	+	3	2358	c.1883G>T	c.(1882-1884)gGg>gTg	p.G628V	SON_ENST00000290239.6_Missense_Mutation_p.G628V|SON_ENST00000381679.4_Missense_Mutation_p.G628V|SON_ENST00000300278.4_Missense_Mutation_p.G628V|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	628					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGGCAACAGGGGTGCTGGAG	0.647																																					p.G628V													.	.			0			c.G1883T												30	35	33					21																	34923420		2203	4299	6502	SO:0001583	missense	6651	exon3			CAACAGGGGTGCT	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1883G>T	21.37:g.34923420G>T	ENSP00000348984:p.Gly628Val		65	0	0		105	0.07	7	NM_032195	104	0.01	1	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585803	0.28268	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.14516	2.66;2.66;2.66;2.5	4.44	4.44	0.53790	.	0.105050	0.43260	D	0.000598	T	0.20170	0.0485	N	0.24115	0.695	0.48901	D	0.999726	D;D;D	0.89917	0.999;1.0;0.991	D;D;P	0.77004	0.964;0.989;0.857	T	0.01021	-1.1478	10	0.28530	T	0.3	.	10.9495	0.47321	0.0914:0.0:0.9086:0.0	.	628;628;628	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	V	628	ENSP00000348984:G628V;ENSP00000290239:G628V;ENSP00000300278:G628V;ENSP00000371095:G628V	ENSP00000290239:G628V	G	+	2	0	SON	33845290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.023000	0.30065	2.764000	0.94973	0.555000	0.69702	GGG			0.647	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000140978.2		NM_138927		T	34923420	G	T	34923420	3	4	131	1	0	0	0	0	1	0	0	0	14949	1232	43	3	1893	3	SON	21	34923420	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		34923420	13206475	41	9771											
CBS	875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	44485607	44485607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcgtcctcacaatctcagCccccagtgcccgcagcacgt	7	6	10	18	3	2	0	2	0	1	0	4	0	3	0	4	1	3	2	4	1	1	0			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr21:44485607C>T	ENST00000398165.3	-	7	815	c.556G>A	c.(556-558)Gct>Act	p.A186T	CBS_ENST00000398168.1_Missense_Mutation_p.A186T|CBS_ENST00000359624.3_Missense_Mutation_p.A186T|CBS_ENST00000352178.5_Missense_Mutation_p.A186T|CBS_ENST00000544202.1_Missense_Mutation_p.A98T|CBS_ENST00000398158.1_Missense_Mutation_p.A186T|CBS_ENST00000470912.1_5'Flank	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	186					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ACAATCTCAGCCCCCAGTGCC	0.657																																					p.A186T													.	.			0			c.G556A												39	42	41					21																	44485607		2203	4300	6503	SO:0001583	missense	875	exon7			TCTCAGCCCCCAG	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.556G>A	21.37:g.44485607C>T	ENSP00000381231:p.Ala186Thr		76	0	0		103	0.23	24	NM_000071	5	0.4	2	B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728661	0.69074	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	4.65	3.75	0.43078	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	M	0.87900	2.915	0.58432	D	0.999993	D;D	0.64830	0.994;0.983	D;D	0.67548	0.952;0.919	D	0.99453	1.0941	10	0.87932	D	0	-25.7281	13.0098	0.58725	0.0:0.8375:0.1625:0.0	.	186;143	P35520;B7Z2D6	CBS_HUMAN;.	T	186;186;186;186;186;143;98	ENSP00000381225:A186T;ENSP00000381231:A186T;ENSP00000352643:A186T;ENSP00000344460:A186T;ENSP00000381234:A186T;ENSP00000439332:A98T	ENSP00000344460:A186T	A	-	1	0	CBS	43358676	1.000000	0.71417	0.815000	0.32552	0.219000	0.24729	6.387000	0.73191	1.056000	0.40484	-0.323000	0.08544	GCT			0.657	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195525.1		NM_000071		T	44485607	C	T	44485607	3	4	131	1	0	0	0	0	1	0	0	0	2713	739	26	2	1143	2	CBS	21	44485607	Missense_Mutation	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	9562187	44485607	3644288	42	9772											
KRTAP10-10	353333	hgsc.bcm.edu	37	chr21	46057832	46057832	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtgctctggggcttccacTtcatgctgccagcagtctag	5	12	12	12	0	3	0	1	0	2	0	4	0	4	0	2	2	4	4	2	2	1	3	rs149762795	byFrequency	TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr21:46057832T>A	ENST00000380095.1	+	1	560	c.498T>A	c.(496-498)acT>acA	p.T166T	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	166	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GGGCTTCCACTTCATGCTGCC	0.622													T|||	19	0.00379393	8e-04	0.0029	5008	,	,		20544	0		0.0099	False		,,,				2504	0.0061				p.T166T													KRTAP10-10,NS,carcinoma,0,1	KRTAP10-10	0	1	0			c.T498A							T	,	12,4394	19.1+/-41.9	0,12,2191	222	207	212		,498	-3.5	0.1	21	dbSNP_134	212	98,8502	54.4+/-115.2	1,96,4203	no	intron,coding-synonymous	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,	1,108,6394	AA,AT,TT		1.1395,0.2724,0.8458	,	,166/252	46057832	110,12896	2203	4300	6503	SO:0001819	synonymous_variant	353333	exon1			TTCCACTTCATGC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.498T>A	21.37:g.46057832T>A			41	0	0		70	0.07	5	NM_181688	0		0		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			0.007		0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688		A	46057832	T	A	46057832	2	1	131	1	0	0	0	0	0	0	0	1	8521	1596	56	5		5	KRTAP10-10	21	46057832	Silent	SNP	T	TCGA-YU-A90Q-01A-11D-A435-10	1572225	46057832	2072063	43	9773											
TXNRD2	10587	mdanderson.org	37	chr22	19885565	19885565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggcctccagcactacctgGtcgaagccgcggagggggat	7	5	17	12	3	0	0	0	0	0	0	2	3	1	2	4	6	3	1	4	6	2	1	rs536545192	byFrequency	TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chr22:19885565G>T	ENST00000400521.1	-	10	777	c.771C>A	c.(769-771)gaC>gaA	p.D257E	TXNRD2_ENST00000535882.1_Missense_Mutation_p.D256E|TXNRD2_ENST00000400518.1_Missense_Mutation_p.D227E|TXNRD2_ENST00000334363.9_Missense_Mutation_p.D257E|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Missense_Mutation_p.D256E|TXNRD2_ENST00000542719.1_Missense_Mutation_p.D227E	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	257					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GCACTACCTGGTCGAAGCCGC	0.672																																					.													.	.			0			.												18	22	21					22																	19885565		2046	4145	6191	SO:0001583	missense	10587	.			TACCTGGTCGAAG	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.771C>A	22.37:g.19885565G>T	ENSP00000383365:p.Asp257Glu		32	0	0		17	0.18	3	.	18	0	0	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857785	0.71834	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.36	4.36	0.52297	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81631	0.4863	M	0.90369	3.11	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	1.0;1.0;1.0;1.0	T	0.83275	-0.0041	10	0.87932	D	0	0.6177	6.0004	0.19517	0.2523:0.0:0.7477:0.0	.	257;257;225;256	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	E	227;257;257;234;161;256;256;227;257	ENSP00000383362:D227E;ENSP00000383365:D257E;ENSP00000383369:D234E;ENSP00000383363:D256E;ENSP00000439314:D256E;ENSP00000439570:D227E;ENSP00000334451:D257E	ENSP00000334451:D257E	D	-	3	2	TXNRD2	18265565	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	3.832000	0.55783	2.170000	0.68504	0.561000	0.74099	GAC			0.672	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding		OTTHUMT00000314903.3		NM_006440		T	19885565	G	T	19885565	3	4	131	1	0	0	0	0	1	0	0	0	16832	1252	44	3	835	3	TXNRD2	22	19885565	Missense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10		19885565	31419001	44	9774											
PNPLA4	8228	broad.mit.edu	37	chrX	7868821	7868821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcttgcttgggggaaaaAgggcttggttgagtctcacc	7	12	13	9	0	2	1	1	1	2	0	4	2	3	2	2	4	1	3	2	4	2	4			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chrX:7868821A>G	ENST00000381042.4	-	7	838	c.668T>C	c.(667-669)cTt>cCt	p.L223P	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L136P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L223P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	223					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGGGGGAAAAAGGGCTTGGTT	0.353																																					p.L223P													.	PNPLA4	24		0			c.T668C												57	52	54					X																	7868821		2203	4299	6502	SO:0001583	missense	8228	exon7			GGAAAAAGGGCTT	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.668T>C	X.37:g.7868821A>G	ENSP00000370430:p.Leu223Pro		292	0.0034246575	1		322	0.01	4	NM_004650	37	0	0	A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341460	0.41498	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	T;T;T	0.81078	-1.45;-1.45;-1.45	4.38	4.38	0.52667	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.193685	0.33127	N	0.005243	D	0.89866	0.6839	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90635	0.4570	10	0.87932	D	0	-22.634	9.3053	0.37872	1.0:0.0:0.0:0.0	.	223	P41247	PLPL4_HUMAN	P	223;223;136	ENSP00000370430:L223P;ENSP00000415245:L223P;ENSP00000443157:L136P	ENSP00000370430:L223P	L	-	2	0	PNPLA4	7828821	1.000000	0.71417	0.139000	0.22197	0.388000	0.30384	5.486000	0.66856	1.452000	0.47756	0.481000	0.45027	CTT			0.353	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055687.1		NM_004650		G	7868821	A	G	7868821	3	3	131	1	0	0	0	0	1	0	0	0	12184	72	3	4	97	4	PNPLA4	23	7868821	Missense_Mutation	SNP	A	TCGA-YU-A90Q-01A-11D-A435-10		7868821	147401739	45	9775											
REPS2	9185	mdanderson.org	37	chrX	17072945	17072945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttagggagcttagtgatgCtgactgtgatggagccctga	9	12	14	6	0	0	4	0	4	0	0	0	6	0	6	1	2	3	2	1	2	2	3			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chrX:17072945C>T	ENST00000357277.3	+	8	1157	c.986C>T	c.(985-987)gCt>gTt	p.A329V	REPS2_ENST00000380064.4_Missense_Mutation_p.A189V|REPS2_ENST00000303843.7_Missense_Mutation_p.A328V	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	329	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTTAGTGATGCTGACTGTGAT	0.512																																					p.A329V													.	.			0			c.C986T												210	170	184					X																	17072945		2203	4300	6503	SO:0001583	missense	9185	exon8			GTGATGCTGACTG	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.986C>T	X.37:g.17072945C>T	ENSP00000349824:p.Ala329Val		55	0	0		69	0.06	4	NM_004726	1	0	0	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	3.386	-0.125337	0.06795	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.23147	1.92;1.92;1.92	5.13	3.33	0.38152	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.200045	0.35151	N	0.003410	T	0.05090	0.0136	N	0.00193	-1.875	0.33025	D	0.529372	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.16722	0.007;0.002;0.016	T	0.14172	-1.0482	10	0.14656	T	0.56	-5.6278	6.7003	0.23221	0.0:0.6332:0.0:0.3668	.	189;328;329	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	V	329;329;328;189	ENSP00000349824:A329V;ENSP00000306033:A328V;ENSP00000369404:A189V	ENSP00000306033:A328V	A	+	2	0	REPS2	16982866	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.150000	0.58098	1.070000	0.40811	-0.191000	0.12829	GCT			0.512	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000316778.1		NM_004726		T	17072945	C	T	17072945	3	4	131	1	0	0	0	0	1	0	0	0	13252	797	28	2	1016	2	REPS2	23	17072945	Missense_Mutation	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	9204124	17072945	138197615	46	9776											
FAM48B1	100130302	hgsc.bcm.edu	37	chrX	24382500	24382500	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgctctagctgctgcTgctgctcctgctcctgctcc	1	13	9	18	0	1	0	0	0	1	0	5	0	5	0	4	0	8	9	4	0	1	1			TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chrX:24382500T>C								AC004552.1 (15477 upstream) : PDK3 (100837 downstream)																							tagctgctgctgctgctcctg	0.632													-|||	2	0.000529801	8e-04	0	3775	,	,		7436	0.001		0	False		,,,				2504	0				p.A541A													.	.			0			c.T1623C												3	3	3					X																	24382500		1309	3036	4345	SO:0001628	intergenic_variant	100130302	exon1			TGCTGCTGCTGCT																													X.37:g.24382500T>C			66	0	0		85	0.12	10	NM_001136234	0		0		Silent	SNP		37																																																																																					0	0.632											C	24382500	T	C	24382500	1	2	131	0	1	0	0	0	0	0	0	0	5586	1567	55	4		4	FAM48B1	23	24382500	IGR	SNP	T	TCGA-YU-A90Q-01A-11D-A435-10	7309555	24382500	130888060	47	9777											
FAM104B	90736	mdanderson.org	37	chrX	55172630	55172630	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacccctcatgcaagaactGgggaaagtttgcatcgggtt	11	10	11	9	1	1	1	1	0	0	1	2	2	1	2	2	3	4	4	2	3	4	3	rs113263757		TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chrX:55172630G>A	ENST00000358460.4	-	3	388	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	FAM104B_ENST00000489298.1_Nonsense_Mutation_p.Q78*|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.Q80*|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.Q76*|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000332132.4_Nonsense_Mutation_p.Q80*			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	79										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TGCAAGAACTGGGGAAAGTTT	0.493																																					p.Q80X													.	.			0			c.C238T												127	104	112					X																	55172630		2203	4300	6503	SO:0001587	stop_gained	90736	exon3			AGAACTGGGGAAA	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.235C>T	X.37:g.55172630G>A	ENSP00000364101:p.Gln79*		34	0.0294117647	1		36	0.08	3	NM_001166700	33	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	11.17	1.559418	0.27827	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.6	1.6	0.23607	.	0.325359	0.21941	U	0.066869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.2487	6.0913	0.19995	0.0:0.0:1.0:0.0	.	.	.	.	X	79;80;80;76;78	.	ENSP00000333394:Q80X	Q	-	1	0	FAM104B	55189355	0.905000	0.30787	0.015000	0.15790	0.033000	0.12548	1.600000	0.36762	1.084000	0.41184	0.436000	0.28706	CAG			0.493	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		A	55172630	G	A	55172630	4	1	131	1	0	0	0	0	0	1	0	0	5396	1357	47	3	217	3	FAM104B	23	55172630	Nonsense_Mutation	SNP	G	TCGA-YU-A90Q-01A-11D-A435-10	30790130	55172630	100097930	48	9778			1	19		2	2	16	N	G_C	2.422706e-05
FAM104B	90736	mdanderson.org	37	chrX	55172645	55172645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaactggggaaagtttgcatCgggttcagtaacaatctggt	11	11	13	6	1	2	0	1	0	1	0	3	2	2	1	0	4	3	4	0	4	4	3	rs1047042	byFrequency	TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chrX:55172645C>G	ENST00000358460.4	-	3	373	c.220G>C	c.(220-222)Gat>Cat	p.D74H	FAM104B_ENST00000489298.1_Missense_Mutation_p.D73H|FAM104B_ENST00000425133.2_Missense_Mutation_p.D75H|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Missense_Mutation_p.D71H|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000332132.4_Missense_Mutation_p.D75H			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	74				D -> V (in Ref. 1; BAG61768). {ECO:0000305}.						endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AAGTTTGCATCGGGTTCAGTA	0.468													C|||	5	0.0013245	0.0023	0	3775	,	,		14416	0		0	False		,,,				2504	0.002				p.D75H													.	.			0			c.G223C												136	110	119					X																	55172645		2203	4300	6503	SO:0001583	missense	90736	exon3			TTGCATCGGGTTC	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.220G>C	X.37:g.55172645C>G	ENSP00000364101:p.Asp74His		31	0.0322580645	1		36	0.08	3	NM_001166700	49	0	0	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	3.193	-0.165363	0.06461	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	1.59	-1.04	0.10068	.	0.505297	0.17523	U	0.171170	T	0.25044	0.0608	N	0.14661	0.345	0.09310	N	1	B;P;P	0.46859	0.002;0.774;0.885	B;P;B	0.46479	0.001;0.518;0.241	T	0.15065	-1.0450	10	0.56958	D	0.05	-1.547	4.2247	0.10575	0.0:0.4679:0.0:0.5321	.	75;74;75	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	H	74;75;75;71;73	ENSP00000364101:D74H;ENSP00000333394:D75H;ENSP00000397188:D75H;ENSP00000421161:D71H;ENSP00000423164:D73H	ENSP00000333394:D75H	D	-	1	0	FAM104B	55189370	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.019000	0.12546	-0.355000	0.08199	-0.556000	0.04195	GAT			0.468	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056851.1		NM_138362		G	55172645	C	G	55172645	3	3	131	1	0	0	0	0	1	0	0	0	5396	884	31	5	232	5	FAM104B	23	55172645	Missense_Mutation	SNP	C	TCGA-YU-A90Q-01A-11D-A435-10	15	55172645	100097915	49	9779			1	19		2	2	16	N	G_C	2.422706e-05
RLIM	51132	ucsc.edu	37	chrX	73811755	73811755	+	Silent	SNP	T	T	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttgaactggaactggaactCgaactggaactggaactcga	13	8	11	9	2	0	1	0	1	0	0	2	7	0	5	0	4	6	0	0	4	6	1	rs7883332	byFrequency	TCGA-YU-A90Q-01A-11D-A435-10	TCGA-YU-A90Q-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	526f0bd9-4127-4315-844c-3b0c77e5a7f4	b2156c22-0881-4a11-94c1-69b20568cc61	g.chrX:73811755T>G	ENST00000332687.6	-	4	1613	c.1395A>C	c.(1393-1395)tcA>tcC	p.S465S	RLIM_ENST00000349225.2_Silent_p.S465S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	465	Poly-Ser.|Ser-rich.				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						aactggaactcgaactggaac	0.463																																					p.S465S	Esophageal Squamous(169;1899 1923 14997 18818 32118)												.	RLIM	90		0			c.G1395C												43	43	43					X																	73811755		2203	4300	6503	SO:0001819	synonymous_variant	51132	exon5			GGAACTCGAACTG	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.1395A>C	X.37:g.73811755T>G			45	0.2	9		64	0.13	8	NM_183353	31	0	0	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																					0.463	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057268.1		NM_016120		G	73811755	T	G	73811755	2	3	131	1	0	0	0	0	0	0	0	1	13413	871	31	5		5	RLIM	23	73811755	Silent	SNP	T	TCGA-YU-A90Q-01A-11D-A435-10	18639110	73811755	81458805	50	9780											
ESPN	83715	broad.mit.edu	37	chr1	6504676	6504676	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagctcgcctaccagcAccctctccaactacgactcc	9	7	4	21	2	2	0	1	0	1	0	5	1	3	0	6	0	5	2	6	0	3	2			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr1:6504676A>C	ENST00000377828.1	+	6	1294	c.1126A>C	c.(1126-1128)Acc>Ccc	p.T376P	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	376					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)		GCCTACCAGCACCCTCTCCAA	0.617																																					p.T376P													.	ESPN	32		0			c.A1126C												125	93	104					1																	6504676		2203	4300	6503	SO:0001583	missense	83715	exon6			ACCAGCACCCTCT	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.1126A>C	1.37:g.6504676A>C	ENSP00000367059:p.Thr376Pro		148	0.2027027027	30		169	0.18	30	NM_031475	0		0	Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.	.	.	.	.	.	.	.	.	.	a	17.65	3.443230	0.63067	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	T;T	0.43294	0.95;0.95	3.6	3.6	0.41247	.	0.105027	0.39687	N	0.001292	T	0.48314	0.1493	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.33599	-0.9862	10	0.27082	T	0.32	-24.0069	11.1722	0.48577	1.0:0.0:0.0:0.0	.	376	B1AK53	ESPN_HUMAN	P	376;161	ENSP00000367059:T376P;ENSP00000401793:T161P	ENSP00000367059:T376P	T	+	1	0	ESPN	6427263	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.671000	0.61590	1.514000	0.48869	0.398000	0.26397	ACC			0.617	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001887.3		NM_031475		C	6504676	A	C	6504676	3	2	132	1	0	0	0	0	1	0	0	0	5261	159	6	4	1148	4	ESPN	1	6504676	Missense_Mutation	SNP	A	TCGA-YU-A90S-01A-11D-A435-10		6504676	242745945	1	9781											
PRPF38A	84950	mdanderson.org	37	chr1	52876860	52876860	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtctgtgatatcattctGccccgactacaggtaagaaa	13	10	9	9	1	3	3	1	1	2	2	3	4	3	3	2	1	2	1	2	1	4	4			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr1:52876860G>T	ENST00000257181.9	+	4	672	c.486G>T	c.(484-486)ctG>ctT	p.L162L	snoU13_ENST00000458879.1_RNA|PRPF38A_ENST00000474048.1_Intron	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	162					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						ATATCATTCTGCCCCGACTAC	0.403																																					p.L162L													.	.			0			c.G486T												128	116	120					1																	52876860		2203	4300	6503	SO:0001819	synonymous_variant	84950	exon4			CATTCTGCCCCGA	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.486G>T	1.37:g.52876860G>T			49	0	0		49	0.06	3	NM_032864	114	0	0	Q96JW1|Q9BVZ8	Silent	SNP	ENST00000257181.9	37	CCDS567.1																																																																																					0.403	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022459.2		NM_032864		T	52876860	G	T	52876860	2	4	132	1	0	0	0	0	0	0	0	1	12587	1306	46	2		2	PRPF38A	1	52876860	Silent	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	46372184	52876860	196373761	2	9782											
LRP8	7804	broad.mit.edu;bcgsc.ca	37	chr1	53741395	53741395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtcccatccccacacTggaactcgtccccacggcag	9	6	7	19	2	0	0	0	0	0	0	4	1	3	1	5	2	1	1	5	2	1	0			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr1:53741395T>C	ENST00000306052.6	-	6	1015	c.914A>G	c.(913-915)cAg>cGg	p.Q305R	LRP8_ENST00000347547.2_Intron|LRP8_ENST00000354412.3_Missense_Mutation_p.Q176R|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.Q305R	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	305	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ATCCCCACACTGGAACTCGTC	0.592																																					p.Q305R													.	LRP8	58		0			c.A914G												151	103	119					1																	53741395		2203	4300	6503	SO:0001583	missense	7804	exon6			CCACACTGGAACT	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.914A>G	1.37:g.53741395T>C	ENSP00000303634:p.Gln305Arg		89	0	0		108	0.06	6	NM_004631	1	0	0	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337168	0.41398	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000354412	D;D;D	0.95103	-3.61;-3.61;-3.61	4.05	1.58	0.23477	Growth factor, receptor (1);	.	.	.	.	D	0.87038	0.6078	N	0.16903	0.455	0.80722	D	1	B;B;B	0.13594	0.008;0.0;0.001	B;B;B	0.15052	0.005;0.003;0.012	T	0.76656	-0.2879	9	0.36615	T	0.2	.	8.5683	0.33554	0.0:0.1647:0.0:0.8353	.	176;305;305	Q14114-2;Q14114-3;Q14114	.;.;LRP8_HUMAN	R	305;305;176	ENSP00000303634:Q305R;ENSP00000360509:Q305R;ENSP00000346391:Q176R	ENSP00000303634:Q305R	Q	-	2	0	LRP8	53513983	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.152000	0.42272	0.121000	0.18284	0.379000	0.24179	CAG			0.592	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000024699.1		NM_004631		C	53741395	T	C	53741395	3	2	132	1	0	0	0	0	1	0	0	0	8979	1580	55	4	2033	4	LRP8	1	53741395	Missense_Mutation	SNP	T	TCGA-YU-A90S-01A-11D-A435-10	864535	53741395	195509226	3	9783											
TCHH	7062	broad.mit.edu	37	chr1	152082647	152082647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcggtactgcctctcccActcctggcgccttctcttct	2	15	7	17	2	3	0	0	0	3	0	6	0	4	0	4	2	3	1	4	2	1	4			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr1:152082647A>G	ENST00000368804.1	-	2	3045	c.3046T>C	c.(3046-3048)Tgg>Cgg	p.W1016R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1016	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.W1016R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgcctctcccactcctggcgc	0.582																																					p.W1016R													TCHH,extremity,malignant_melanoma,0,1	TCHH	275	1	1	Substitution - Missense(1)	skin(1)	c.T3046C												98	100	99					1																	152082647		1974	4149	6123	SO:0001583	missense	7062	exon3			TCTCCCACTCCTG	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3046T>C	1.37:g.152082647A>G	ENSP00000357794:p.Trp1016Arg		110	0.0545454545	6		155	0.04	6	NM_007113	0		0	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	a	1.987	-0.432633	0.04669	.	.	ENSG00000159450	ENST00000368804	T	0.03745	3.82	1.9	-0.341	0.12639	.	.	.	.	.	T	0.00328	0.0010	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38607	-0.9653	9	0.13108	T	0.6	.	2.7919	0.05390	0.17:0.0:0.3552:0.4748	.	1016	Q07283	TRHY_HUMAN	R	1016	ENSP00000357794:W1016R	ENSP00000357794:W1016R	W	-	1	0	TCHH	150349271	0.002000	0.14202	0.001000	0.08648	0.053000	0.15095	0.265000	0.18515	-0.507000	0.06549	-0.381000	0.06696	TGG			0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036671.2		NM_007113		G	152082647	A	G	152082647	3	3	132	1	0	0	0	0	1	0	0	0	15723	159	6	4	2789	4	TCHH	1	152082647	Missense_Mutation	SNP	A	TCGA-YU-A90S-01A-11D-A435-10	98341252	152082647	97167974	4	9784											
PKP1	5317	mdanderson.org	37	chr1	201294223	201294223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtacttctccagcagcatGctcaacaacatcatcaacct	13	9	4	15	0	4	0	3	0	1	0	5	0	4	0	2	0	7	4	2	0	4	2			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr1:201294223G>T	ENST00000352845.3	+	12	2052	c.2052G>T	c.(2050-2052)atG>atT	p.M684I	PKP1_ENST00000367324.3_Missense_Mutation_p.M663I|PKP1_ENST00000263946.3_Missense_Mutation_p.M684I			Q13835	PKP1_HUMAN	plakophilin 1	684					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCAGCAGCATGCTCAACAACA	0.602																																					p.M684I													.	.			0			c.G2052T												172	142	152					1																	201294223		2203	4300	6503	SO:0001583	missense	5317	exon12			CAGCATGCTCAAC	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.2052G>T	1.37:g.201294223G>T	ENSP00000295597:p.Met684Ile		85	0	0		93	0.04	4	NM_000299	0		0	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335813	0.41398	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.41758	0.99;0.99;0.99	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.108227	0.64402	D	0.000004	T	0.36358	0.0964	L	0.36672	1.1	0.49213	D	0.999769	B;B;B	0.18968	0.0;0.032;0.008	B;B;B	0.12837	0.003;0.008;0.002	T	0.12502	-1.0545	10	0.62326	D	0.03	-19.8842	15.2302	0.73381	0.0:0.1401:0.8599:0.0	.	271;663;684	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	I	663;684;684	ENSP00000356293:M663I;ENSP00000263946:M684I;ENSP00000295597:M684I	ENSP00000263946:M684I	M	+	3	0	PKP1	199560846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.785000	0.68998	2.659000	0.90383	0.655000	0.94253	ATG			0.602	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000086897.1		NM_000299		T	201294223	G	T	201294223	3	4	132	1	0	0	0	0	1	0	0	0	12001	1319	46	2	2098	2	PKP1	1	201294223	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	49211576	201294223	47956398	5	9785											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgattttgagaaactaaTatgggagatttcaggaggca	14	11	13	3	0	1	3	1	2	0	2	1	7	1	5	0	4	1	1	0	4	3	5			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					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)			GAGAAACTAATATGGGAGATT	0.473																																					p.I777T													.	ZC3H11A	71		0			c.T2330C												55	56	56					1																	203821424		2203	4300	6503	SO:0001583	missense	9877	exon20			AACTAATATGGGA		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.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr		374	0.0026737968	1		357	0.01	5	NM_014827	104	0	0	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA			0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087471.3		NM_014827		C	203821424	T	C	203821424	3	2	132	1	0	0	0	0	1	0	0	0	17583	1406	49	4	2392	4	ZC3H11A	1	203821424	Missense_Mutation	SNP	T	TCGA-YU-A90S-01A-11D-A435-10	2527201	203821424	45429197	6	9786											
ZNF238	10472	mdanderson.org	37	chr1	244218106	244218106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggacaaagccagtgatGatgagatgatgaccccagag	14	5	15	7	0	0	6	0	5	0	2	0	9	0	8	3	2	1	0	3	2	1	0			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr1:244218106G>T	ENST00000358704.4	+	2	1179	c.1030G>T	c.(1030-1032)Gat>Tat	p.D344Y		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	335	Interaction with DNMT3A.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGCCAGTGATGATGAGATGAT	0.612																																					p.D344Y													.	.			0			c.G1030T												72	66	68					1																	244218106		2203	4300	6503	SO:0001583	missense	10472	exon2			AGTGATGATGAGA	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1030G>T	1.37:g.244218106G>T	ENSP00000351539:p.Asp344Tyr		64	0	0		66	0.06	4	NM_205768	21	0	0	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600573	0.46423	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.12569	2.67	5.73	5.73	0.89815	.	0.167072	0.53938	D	0.000058	T	0.18882	0.0453	N	0.19112	0.55	0.80722	D	1	P;P	0.47910	0.842;0.902	P;P	0.51229	0.462;0.663	T	0.00934	-1.1509	10	0.59425	D	0.04	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	335;344	Q99592;Q99592-2	ZN238_HUMAN;.	Y	344	ENSP00000351539:D344Y	ENSP00000351539:D344Y	D	+	1	0	ZNF238	242284729	1.000000	0.71417	0.524000	0.27887	0.862000	0.49288	6.331000	0.72929	2.718000	0.92993	0.650000	0.86243	GAT			0.612	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096513.2		NM_205768		T	244218106	G	T	244218106	3	4	132	1	0	0	0	0	1	0	0	0	17813	1290	45	3	1036	3	ZNF238	1	244218106	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	40396682	244218106	5032515	7	9787											
STAMBP	10617	broad.mit.edu	37	chr2	74077544	74077544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatgttctcatccccaaGcaaagtgctgggtctgatta	10	11	8	12	0	2	1	1	1	2	0	4	1	3	1	3	1	2	3	3	1	3	2			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr2:74077544G>T	ENST00000394070.2	+	7	1412	c.909G>T	c.(907-909)aaG>aaT	p.K303N	STAMBP_ENST00000409707.1_Missense_Mutation_p.K303N|STAMBP_ENST00000394073.1_Missense_Mutation_p.K303N|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000339566.3_Missense_Mutation_p.K303N	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	303	MPN.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TCATCCCCAAGCAAAGTGCTG	0.478																																					p.K303N													.	STAMBP	37		0			c.G909T												151	134	140					2																	74077544		2203	4300	6503	SO:0001583	missense	10617	exon8			CCCCAAGCAAAGT	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.909G>T	2.37:g.74077544G>T	ENSP00000377633:p.Lys303Asn		283	0	0		320	0.02	5	NM_006463	52	0	0	B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141675	0.77775	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000432295;ENST00000394073;ENST00000394070	T;T;T;T;T	0.63255	0.53;0.53;-0.03;0.53;0.53	4.66	3.77	0.43336	.	0.051098	0.85682	D	0.000000	T	0.79131	0.4394	M	0.91140	3.18	0.58432	D	0.999999	D	0.59357	0.985	D	0.64506	0.926	T	0.80612	-0.1305	10	0.72032	D	0.01	-1.8925	7.62	0.28179	0.1989:0.0:0.8011:0.0	.	303	O95630	STABP_HUMAN	N	303	ENSP00000344742:K303N;ENSP00000386548:K303N;ENSP00000413874:K303N;ENSP00000377636:K303N;ENSP00000377633:K303N	ENSP00000344742:K303N	K	+	3	2	STAMBP	73931052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.961000	0.56759	1.166000	0.42689	0.563000	0.77884	AAG			0.478	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252048.2		NM_006463		T	74077544	G	T	74077544	3	4	132	1	0	0	0	0	1	0	0	0	15273	962	34	2	931	2	STAMBP	2	74077544	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		74077544	169121829	8	9788											
FAM128B	80097	broad.mit.edu	37	chr2	130948058	130948058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggagaaacaaaggcagCgctgccctcgggggagcatt	11	5	15	10	2	1	1	1	0	0	1	2	3	1	2	1	4	4	3	1	4	2	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr2:130948058C>T	ENST00000281871.6	+	3	691	c.336C>T	c.(334-336)agC>agT	p.S112S	MZT2B_ENST00000409255.1_Silent_p.S172S	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	112						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						ACAAAGGCAGCGCTGCCCTCG	0.627																																					p.S112S													MZT2B,caecum,carcinoma,0,1	MZT2B	5	1	0			c.C336T												30	29	30					2																	130948058		2201	4300	6501	SO:0001819	synonymous_variant	80097	exon3			AGGCAGCGCTGCC	BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"	613450	"family with sequence similarity 128, member B"	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.336C>T	2.37:g.130948058C>T			163	0	0		155	0.03	4	NM_025029	462	0	1	Q96CG4	Silent	SNP	ENST00000281871.6	37	CCDS2157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.120|0.120	-1.126970|-1.126970	0.01770|0.01770	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000425361|ENST00000455239	.|.	.|.	.|.	3.47|3.47	0.573|0.573	0.17363|0.17363	.|.	.|.	.|.	.|.	.|.	T|T	0.36908|0.36908	0.0984|0.0984	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999993|0.999993	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31280|0.31280	-0.9949|-0.9949	4|5	.|0.48119	.|T	.|0.1	-5.8906|-5.8906	6.3318|6.3318	0.21274|0.21274	0.0:0.5373:0.0:0.4627|0.0:0.5373:0.0:0.4627	.|.	.|.	.|.	.|.	V|C	76|53	.|.	.|ENSP00000404629:R53C	A|R	+|+	2|1	0|0	MZT2B|MZT2B	130664528|130664528	0.000000|0.000000	0.05858|0.05858	0.071000|0.071000	0.20095|0.20095	0.062000|0.062000	0.15995|0.15995	-0.131000|-0.131000	0.10482|0.10482	-0.004000|-0.004000	0.14419|0.14419	-0.372000|-0.372000	0.07161|0.07161	GCG|CGC			0.627	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000254518.1		NM_025029		T	130948058	C	T	130948058	2	4	132	1	0	0	0	0	0	0	0	1	5445	767	27	1		1	FAM128B	2	130948058	Silent	SNP	C	TCGA-YU-A90S-01A-11D-A435-10	56870514	130948058	112251315	9	9789											
DES	1674	broad.mit.edu	37	chr2	220286080	220286080	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacgattccctgatgaggCagatgcgggaattggaggac	12	7	15	7	2	0	4	0	2	0	2	1	8	1	7	1	4	2	1	1	4	2	2			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr2:220286080C>A	ENST00000373960.3	+	6	1128	c.1042C>A	c.(1042-1044)Cag>Aag	p.Q348K		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	348	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTGATGAGGCAGATGCGGGA	0.572																																					p.Q348K													.	DES	53		0			c.C1042A												55	57	57					2																	220286080		2203	4300	6503	SO:0001583	missense	1674	exon6			ATGAGGCAGATGC	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1042C>A	2.37:g.220286080C>A	ENSP00000363071:p.Gln348Lys		97	0.0103092784	1		130	0.05	7	NM_001927	8	0	0	Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971291	0.92919	.	.	ENSG00000175084	ENST00000373960	D	0.88975	-2.45	5.24	5.24	0.73138	Filament (1);	0.000000	0.48286	D	0.000199	D	0.94716	0.8295	M	0.82716	2.605	0.53005	D	0.999964	D	0.63880	0.993	D	0.69479	0.964	D	0.94930	0.8081	10	0.66056	D	0.02	.	18.6284	0.91350	0.0:1.0:0.0:0.0	.	348	P17661	DESM_HUMAN	K	348	ENSP00000363071:Q348K	ENSP00000363071:Q348K	Q	+	1	0	DES	219994324	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.403000	0.79983	2.706000	0.92434	0.655000	0.94253	CAG			0.572	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130240.1		NM_001927		A	220286080	C	A	220286080	3	1	132	1	0	0	0	0	1	0	0	0	4454	711	25	2	1064	2	DES	2	220286080	Missense_Mutation	SNP	C	TCGA-YU-A90S-01A-11D-A435-10	89338022	220286080	22913293	10	9790											
ZNF621	285268	mdanderson.org	37	chr3	40573808	40573808	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaagccctttaagtgtaagGagtgtggcaaagctttcaag	14	10	11	6	0	1	0	1	0	0	0	1	1	1	1	1	2	2	3	1	2	6	4			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr3:40573808G>T	ENST00000339296.5	+	5	999	c.547G>T	c.(547-549)Gag>Tag	p.E183*	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Nonsense_Mutation_p.E72*|ZNF621_ENST00000403205.2_Nonsense_Mutation_p.E183*	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	183					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.E183Q(2)		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)		TAAGTGTAAGGAGTGTGGCAA	0.403																																					p.E183X													ZNF621,NS,carcinoma,0,1	ZNF621	0	1	2	Substitution - Missense(2)	lung(2)	c.G547T												94	89	91					3																	40573808		2203	4300	6503	SO:0001587	stop_gained	285268	exon5			TGTAAGGAGTGTG	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.547G>T	3.37:g.40573808G>T	ENSP00000340841:p.Glu183*		46	0	0		54	0.06	3	NM_001098414	5	0	0	Q14DC7|Q8TE91	Nonsense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	37	6.413092	0.97546	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	.	.	.	4.07	3.16	0.36331	.	0.168842	0.28312	N	0.015816	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.846	0.52385	0.0:0.1789:0.821:0.0	.	.	.	.	X	183;183;72	.	ENSP00000340841:E183X	E	+	1	0	ZNF621	40548812	0.000000	0.05858	0.999000	0.59377	0.708000	0.40852	0.197000	0.17197	1.258000	0.44101	0.655000	0.94253	GAG			0.403	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254178.2		NM_198484		T	40573808	G	T	40573808	4	4	132	1	0	0	0	0	0	1	0	0	18068	1175	41	3	561	3	ZNF621	3	40573808	Nonsense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		40573808	157448622	11	9791											
GLYCTK	132158	mdanderson.org	37	chr3	52325040	52325040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcggaggacaacctcccgGaccgcgatgcgctgcgggct	6	5	16	14	6	0	0	0	0	0	0	1	4	1	3	3	4	4	2	3	4	1	0			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr3:52325040G>T	ENST00000436784.2	+	3	502	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	GLYCTK_ENST00000354773.4_Missense_Mutation_p.D148Y|GLYCTK_ENST00000477382.1_Missense_Mutation_p.D148Y|GLYCTK_ENST00000473032.1_Missense_Mutation_p.D148Y|GLYCTK_ENST00000471180.1_Missense_Mutation_p.D21Y|GLYCTK_ENST00000305690.8_Missense_Mutation_p.D148Y|GLYCTK_ENST00000461183.1_Missense_Mutation_p.D64Y|GLYCTK-AS1_ENST00000493616.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	148					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)		CAACCTCCCGGACCGCGATGC	0.617																																					p.D148Y													.	.			0			c.G442T												99	79	86					3																	52325040		2203	4300	6503	SO:0001583	missense	132158	exon3			CTCCCGGACCGCG		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.442G>T	3.37:g.52325040G>T	ENSP00000389175:p.Asp148Tyr		61	0	0		50	0.06	3	NM_145262	31	0	0	Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606828	0.66558	.	.	ENSG00000168237	ENST00000461183;ENST00000473032;ENST00000305690;ENST00000354773;ENST00000471180;ENST00000436784;ENST00000477382	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	H	0.95950	3.745	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	0.88123	0.2833	10	0.87932	D	0	-28.1859	19.1152	0.93336	0.0:0.0:1.0:0.0	.	148;148;148	Q8IVS8-2;Q8IVS8-4;Q8IVS8	.;.;GLCTK_HUMAN	Y	64;148;148;148;21;148;148	ENSP00000417264:D64Y;ENSP00000418951:D148Y;ENSP00000301965:D148Y;ENSP00000346825:D148Y;ENSP00000417526:D21Y;ENSP00000389175:D148Y;ENSP00000419008:D148Y	ENSP00000301965:D148Y	D	+	1	0	GLYCTK	52300080	1.000000	0.71417	0.533000	0.28001	0.309000	0.27889	9.172000	0.94808	2.503000	0.84419	0.655000	0.94253	GAC			0.617	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350835.1		NM_145262		T	52325040	G	T	52325040	3	4	132	1	0	0	0	0	1	0	0	0	6496	1174	41	3	448	3	GLYCTK	3	52325040	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	11751232	52325040	145697390	12	9792											
CCDC37	348807	broad.mit.edu	37	chr3	126135309	126135309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggccgagcatcagcgcGccttccgcgactacacgacc	8	4	11	18	7	1	0	1	0	0	0	2	4	2	0	5	1	3	1	5	1	1	2			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr3:126135309G>T	ENST00000352312.1	+	5	475	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S	CCDC37_ENST00000505024.1_Missense_Mutation_p.A126S|CCDC37_ENST00000393425.1_Missense_Mutation_p.A126S	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	126										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GCATCAGCGCGCCTTCCGCGA	0.687																																					p.A126S													.	CCDC37	69		0			c.G376T												17	17	17					3																	126135309		2198	4292	6490	SO:0001583	missense	348807	exon5			CAGCGCGCCTTCC	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.376G>T	3.37:g.126135309G>T	ENSP00000344749:p.Ala126Ser		63	0.0158730159	1		91	0.07	6	NM_182628	0		0	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641105	0.29157	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.33216	1.49;1.42;1.42	4.59	0.454	0.16644	.	0.796770	0.11394	N	0.568519	T	0.15219	0.0367	N	0.19112	0.55	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.19148	0.024;0.011	T	0.33727	-0.9857	10	0.16420	T	0.52	-1.1007	3.7306	0.08491	0.3092:0.0:0.5231:0.1677	.	126;126	Q494V2-2;Q494V2	.;CCD37_HUMAN	S	126	ENSP00000344749:A126S;ENSP00000377076:A126S;ENSP00000423046:A126S	ENSP00000344749:A126S	A	+	1	0	CCDC37	127617999	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.134000	0.10436	-0.255000	0.09486	0.491000	0.48974	GCC			0.687	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000370099.4		NM_182628		T	126135309	G	T	126135309	3	4	132	1	0	0	0	0	1	0	0	0	2811	1087	38	1	390	1	CCDC37	3	126135309	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	73810269	126135309	71887121	13	9793											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	55594221	55594221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctcatgtctgaactcAaagtcctgagttaccttggt	10	12	8	11	0	3	2	2	2	1	0	4	2	4	2	3	1	3	1	3	1	4	2	rs121913512		TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr4:55594221A>G	ENST00000288135.5	+	13	2021	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	642	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K642E(25)|p.K642Q(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGAACTCAAAGTCCTGAG	0.438		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.K642E			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,malignant_melanoma,0,38	KIT	0	38	26	Substitution - Missense(26)	soft_tissue(14)|skin(12)	c.A1924G	GRCh37	CM002803	KIT	M	rs121913512							127	116	119					4																	55594221		2203	4300	6503	SO:0001583	missense	3815	exon13	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GAACTCAAAGTCC	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1924A>G	4.37:g.55594221A>G	ENSP00000288135:p.Lys642Glu		164	0	0		160	0.05	8	NM_000222	29	0.45	13	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.033413	0.93575	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82893	-1.66;-1.66	6.06	6.06	0.98353	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	0.000003	D	0.85978	0.5823	N	0.25060	0.705	0.80722	A	1	D;D;D	0.89917	0.984;1.0;1.0	P;D;D	0.97110	0.848;1.0;0.999	D	0.88226	0.2900	9	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	149;638;642	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	E	642;638	ENSP00000288135:K642E;ENSP00000390987:K638E	ENSP00000288135:K642E	K	+	1	0	KIT	55288978	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.248000	0.95456	2.324000	0.78689	0.533000	0.62120	AAA			0.438	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				G	55594221	A	G	55594221	3	3	132	1	0	0	0	0	1	0	0	0	8344	131	5	4	1974	4	KIT	4	55594221	Missense_Mutation	SNP	A	TCGA-YU-A90S-01A-11D-A435-10		55594221	135560055	14	9794											
UGT2B11	10720	mdanderson.org	37	chr4	70066408	70066408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgatcatgttgaattCttgataatttcataatattc	11	19	6	5	0	3	3	2	3	1	0	4	3	3	3	0	1	0	2	0	1	4	9	rs200919649		TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr4:70066408C>A	ENST00000446444.1	-	6	1348	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	447					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGTTGAATTCTTGATAATTT	0.373																																					p.R447I													.	.			0			c.G1340T												66	71	69					4																	70066408		2203	4298	6501	SO:0001583	missense	10720	exon6			TGAATTCTTGATA	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1340G>T	4.37:g.70066408C>A	ENSP00000387683:p.Arg447Ile		104	0.0096153846	1		91	0.08	7	NM_001073	0		0	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	4.019	0.000882	0.07819	.	.	ENSG00000213759	ENST00000446444	T	0.62788	0.0	1.27	0.283	0.15696	.	0.310296	0.24102	U	0.041536	T	0.51787	0.1695	L	0.50993	1.605	0.30965	N	0.723211	B	0.20780	0.048	B	0.25987	0.065	T	0.53351	-0.8451	10	0.72032	D	0.01	.	7.0366	0.24996	0.0:0.7131:0.2869:0.0	.	447	O75310	UDB11_HUMAN	I	447	ENSP00000387683:R447I	ENSP00000387683:R447I	R	-	2	0	UGT2B11	70100997	0.000000	0.05858	0.541000	0.28102	0.201000	0.24016	-0.075000	0.11431	0.079000	0.16929	0.184000	0.17185	AGA			0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251551.2		NM_001073		A	70066408	C	A	70066408	3	1	132	1	0	0	0	0	1	0	0	0	16981	913	32	3	253	3	UGT2B11	4	70066408	Missense_Mutation	SNP	C	TCGA-YU-A90S-01A-11D-A435-10	14472187	70066408	121087868	15	9795											
TRIP13	9319	mdanderson.org	37	chr5	908524	908524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggcaccgagccatcaGatgccatccgcgtggtcaat	8	6	14	13	4	2	1	2	0	0	1	3	2	3	1	4	3	2	1	4	3	1	0			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr5:908524G>T	ENST00000166345.3	+	9	1170	c.814G>T	c.(814-816)Gat>Tat	p.D272Y		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	272					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CGAGCCATCAGATGCCATCCG	0.542																																					p.D272Y													.	.			0			c.G814T												78	79	79					5																	908524		2203	4300	6503	SO:0001583	missense	9319	exon9			CCATCAGATGCCA	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.814G>T	5.37:g.908524G>T	ENSP00000166345:p.Asp272Tyr		50	0	0		40	0.08	3	NM_001166260	8	0	0	C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	19.96	3.924294	0.73213	.	.	ENSG00000071539	ENST00000166345	D	0.93307	-3.2	5.95	5.95	0.96441	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97964	0.9330	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98429	1.0581	10	0.87932	D	0	-8.6372	19.9739	0.97296	0.0:0.0:1.0:0.0	.	272	Q15645	PCH2_HUMAN	Y	272	ENSP00000166345:D272Y	ENSP00000166345:D272Y	D	+	1	0	TRIP13	961524	1.000000	0.71417	0.702000	0.30337	0.335000	0.28730	9.140000	0.94607	2.826000	0.97356	0.563000	0.77884	GAT			0.542	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206721.2		NM_004237		T	908524	G	T	908524	3	4	132	1	0	0	0	0	1	0	0	0	16581	942	33	3	848	3	TRIP13	5	908524	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		908524	180006736	16	9796											
NEUROG1	4762	mdanderson.org	37	chr5	134871333	134871333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataggtcactgccgctgctGctggcgcagtcgaggtcgga	6	8	16	11	4	1	0	1	0	0	0	3	3	1	1	1	4	3	4	1	4	1	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr5:134871333G>T	ENST00000314744.4	-	1	306	c.48C>A	c.(46-48)agC>agA	p.S16R		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	16					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCGCTGCTGCTGGCGCAGT	0.672																																					p.S16R													.	.			0			c.C48A												24	22	22					5																	134871333		1994	4005	5999	SO:0001583	missense	4762	exon1			GCTGCTGCTGGCG	U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"Basic helix-loop-helix proteins"	7764	protein-coding gene	gene with protein product	"neurogenic differentiation 3"	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.48C>A	5.37:g.134871333G>T	ENSP00000317580:p.Ser16Arg		21	0	0		26	0.12	3	NM_006161	0		0	Q5U0Q9|Q96HE1	Missense_Mutation	SNP	ENST00000314744.4	37	CCDS4187.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678266	0.29783	.	.	ENSG00000181965	ENST00000314744	D	0.96136	-3.92	4.32	2.39	0.29439	.	0.374279	0.19629	N	0.109727	D	0.87038	0.6078	N	0.19112	0.55	0.29366	N	0.864367	P	0.38195	0.622	B	0.28709	0.093	D	0.83643	0.0151	10	0.62326	D	0.03	-1.0911	5.7214	0.17988	0.1844:0.1617:0.6539:0.0	.	16	Q92886	NGN1_HUMAN	R	16	ENSP00000317580:S16R	ENSP00000317580:S16R	S	-	3	2	NEUROG1	134899232	0.994000	0.37717	0.998000	0.56505	0.939000	0.58152	2.091000	0.41691	1.013000	0.39391	0.561000	0.74099	AGC			0.672	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251192.1		NM_006161		T	134871333	G	T	134871333	3	4	132	1	0	0	0	0	1	0	0	0	10369	1310	46	2	669	2	NEUROG1	5	134871333	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	133962809	134871333	46043927	17	9797											
SLC4A9	83697	mdanderson.org	37	chr5	139747091	139747091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgccctgcctgccctGctgctgtctatcctcatctt	3	13	8	17	0	3	0	1	0	2	0	4	0	4	0	4	0	6	4	4	0	1	2			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr5:139747091G>T	ENST00000230993.6	+	15	2207	c.2172G>T	c.(2170-2172)ctG>ctT	p.L724L	SLC4A9_ENST00000507527.1_Silent_p.L724L|SLC4A9_ENST00000506757.2_Silent_p.L700L|SLC4A9_ENST00000506545.1_Silent_p.L637L|SLC4A9_ENST00000432095.2_Silent_p.L686L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	724	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTGCCCTGCTGCTGTCTA	0.597																																					p.L724L													.	.			0			c.G2172T												31	34	33					5																	139747091		2106	4242	6348	SO:0001819	synonymous_variant	83697	exon15			TGCCCTGCTGCTG	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2172G>T	5.37:g.139747091G>T			76	0	0		55	0.05	3	NM_001258428	0		0	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	ENST00000230993.6	37	CCDS58973.1																																																																																					0.597	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000372823.1		NM_031467		T	139747091	G	T	139747091	2	4	132	1	0	0	0	0	0	0	0	1	14683	1306	46	2		2	SLC4A9	5	139747091	Silent	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	4875758	139747091	41168169	18	9798											
C5orf25	375484	mdanderson.org	37	chr5	175665527	175665527	+	5'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccatggaggatttcatcGtgatctcggacgacagcggc	9	8	13	11	4	2	1	1	1	1	0	4	5	2	4	1	4	2	0	1	4	0	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr5:175665527G>A	ENST00000443967.1	+	0	158				SIMC1_ENST00000430704.2_Missense_Mutation_p.V6M|SIMC1_ENST00000341199.6_Missense_Mutation_p.V6M|SIMC1_ENST00000429602.2_Missense_Mutation_p.V6M			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1								SUMO polymer binding (GO:0032184)										GGATTTCATCGTGATCTCGGA	0.756																																					p.V6M													.	.			0			c.G16A												2	2	2					5																	175665527		479	1202	1681	SO:0001623	5_prime_UTR_variant	375484	exon1			TTCATCGTGATCT	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.-250G>A	5.37:g.175665527G>A			18	0	0		16	0.19	3	NM_198567	0		0	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37		.	.	.	.	.	.	.	.	.	.	N	13.61	2.287103	0.40494	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000429602	T;T;T	0.38560	1.6;1.6;1.13	1.99	1.99	0.26369	.	.	.	.	.	T	0.45796	0.1360	N	0.24115	0.695	0.23855	N	0.996656	D;D	0.76494	0.999;0.997	D;D	0.81914	0.995;0.938	T	0.18967	-1.0320	9	0.87932	D	0	.	7.4915	0.27464	0.0:0.0:1.0:0.0	.	6;6	B4DRM7;Q8NDZ2-3	.;.	M	6	ENSP00000342075:V6M;ENSP00000409287:V6M;ENSP00000410552:V6M	ENSP00000342075:V6M	V	+	1	0	C5orf25	175598133	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	2.735000	0.47377	1.423000	0.47198	0.197000	0.17608	GTG			0.756	SIMC1-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000253155.2		NM_198567		A	175665527	G	A	175665527	1	1	132	0	1	0	0	0	0	0	0	0	2290	1145	40	1		1	C5orf25	5	175665527	5'UTR	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	35918436	175665527	5249733	19	9799											
MDC1	9656	broad.mit.edu	37	chr6	30681594	30681594	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacctacttcctcctccGagtcctcagccaacagaagc	10	9	5	17	1	1	1	1	0	0	1	5	2	5	1	6	0	5	0	6	0	4	3			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr6:30681594G>T	ENST00000376406.3	-	3	1150	c.503C>A	c.(502-504)tCg>tAg	p.S168*	MDC1_ENST00000376405.2_Nonsense_Mutation_p.S168*|MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	168	Interaction with the MRN complex.|Required for nuclear localization (NLS1).				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						TTCCTCCTCCGAGTCCTCAGC	0.493								Other conserved DNA damage response genes																													p.S168X													.	MDC1	218		0			c.C503A												83	100	94					6																	30681594		1510	2709	4219	SO:0001587	stop_gained	9656	exon3			TCCTCCGAGTCCT	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.503C>A	6.37:g.30681594G>T	ENSP00000365588:p.Ser168*		133	0	0		129	0.04	5	NM_014641	3	0	0	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	38	7.283200	0.98186	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104;ENST00000435797;ENST00000452213	.	.	.	5.68	5.68	0.88126	.	0.000000	0.32106	N	0.006571	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9214	15.285	0.73822	0.0:0.0:1.0:0.0	.	.	.	.	X	168;168;168;40;168;168	.	ENSP00000365587:S168X	S	-	2	0	MDC1	30789573	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	4.711000	0.61881	2.671000	0.90904	0.650000	0.86243	TCG			0.493	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000076103.1		NM_014641		T	30681594	G	T	30681594	4	4	132	1	0	0	0	0	0	1	0	0	9419	1059	37	1	5818	1	MDC1	6	30681594	Nonsense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		30681594	140433473	20	9800											
SKIV2L	6499	bcgsc.ca;mdanderson.org	37	chr6	31933780	31933780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagatggcagacctgcaccGcatgatgatggtgagcgggc	9	6	16	10	3	0	5	0	3	0	2	0	6	0	5	2	3	2	3	2	3	0	0	rs372669695		TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr6:31933780G>T	ENST00000375394.2	+	18	2305	c.2192G>T	c.(2191-2193)cGc>cTc	p.R731L	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R538L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	731	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GACCTGCACCGCATGATGATG	0.627																																					p.R731L													.	SKIV2L	97		0			c.G2192T												18	16	17					6																	31933780		1506	2706	4212	SO:0001583	missense	6499	exon18			TGCACCGCATGAT		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2192G>T	6.37:g.31933780G>T	ENSP00000364543:p.Arg731Leu		65	0	0		59	0.08	5	NM_006929	50	0	0	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474465	0.43942	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.50001	0.89;0.76	5.42	4.55	0.56014	Helicase, C-terminal (1);	0.427897	0.27092	N	0.020978	T	0.23886	0.0578	L	0.60904	1.88	0.31278	N	0.690937	P	0.43287	0.802	B	0.37451	0.25	T	0.08722	-1.0708	10	0.35671	T	0.21	-11.6895	9.4579	0.38767	0.1651:0.0:0.8349:0.0	.	731	Q15477	SKIV2_HUMAN	L	731;573;538	ENSP00000364543:R731L;ENSP00000442645:R538L	ENSP00000364543:R731L	R	+	2	0	SKIV2L	32041759	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.690000	0.37711	1.297000	0.44761	-0.136000	0.14681	CGC			0.627	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076264.3				T	31933780	G	T	31933780	3	4	132	1	0	0	0	0	1	0	0	0	14382	1087	38	1	2262	1	SKIV2L	6	31933780	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	1252186	31933780	139181287	21	9801											
UNC93A	54346	ucsc.edu	37	chr6	167728900	167728901	+	Missense_Mutation	DNP	TC	TC	CG																															accccacgctccaggacaggTcaaccaggcagaggatgaag																										TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	TC	TC					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr6:167728900_167728901TC>CG	ENST00000230256.3	+	8	1509_1510	c.1334_1335TC>CG	c.(1333-1335)gTC>gCG	p.V445A	UNC93A_ENST00000366829.2_Missense_Mutation_p.V403A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	445			V -> A. {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V445A(1)		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)		CCAGGACAGGTCAACCAGGCAG	0.525																																					p.V445A													UNC93A,ear,carcinoma,+1,2	UNC93A	66	2	1	Substitution - Missense(1)	skin(1)	c.C1335G																																									SO:0001583	missense	54346	exon8			GACAGGTCAACCA	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	Exception_encountered	6.37:g.167728900_167728901delinsCG	ENSP00000230256:p.Val445Ala		58	0.1379310345	8		80	0.14	11	NM_018974	0		0	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	DNP	ENST00000230256.3	37	CCDS5300.1																																																																																					0.525	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043125.2		NM_018974		CG	167728901	TC	CG	167728900	3	2	132	1	0	0	0	0	1	0	0	0	17020	1667	58	4	1364	4	UNC93A	6	167728900	Missense_Mutation	DNP	TC	TCGA-YU-A90S-01A-11D-A435-10	135795120	167728900	3386167	22	9802											
PKN3	29941	mdanderson.org	37	chr9	131467791	131467791	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggagctgcacgcccgaatCctgctgcccggccctgggcc	4	5	14	18	4	0	0	0	0	0	0	1	2	1	1	5	3	4	3	5	3	1	0			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr9:131467791C>A	ENST00000291906.4	+	2	627	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	78					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACGCCCGAATCCTGCTGCCCG	0.701																																					p.I78I													.	.			0			c.C234A												4	4	4					9																	131467791		2064	4043	6107	SO:0001819	synonymous_variant	29941	exon2			CCGAATCCTGCTG	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.234C>A	9.37:g.131467791C>A			66	0	0		44	0.07	3	NM_013355	1	0	0	Q9UM03	Silent	SNP	ENST00000291906.4	37	CCDS6908.1																																																																																					0.701	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054487.1		NM_013355		A	131467791	C	A	131467791	2	1	132	1	0	0	0	0	0	0	0	1	11998	845	30	3		3	PKN3	9	131467791	Silent	SNP	C	TCGA-YU-A90S-01A-11D-A435-10		131467791	9745640	23	9803											
EHMT1	79813	mdanderson.org	37	chr9	140707983	140707983	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaatatcactcatctgcagGtgagtgacggcagatgaagg	13	8	13	7	1	3	4	2	3	1	1	3	5	3	4	0	3	1	2	0	3	3	1	rs137852724		TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr9:140707983G>T	ENST00000460843.1	+	21	3207		c.e21+1			NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1						chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCATCTGCAGGTGAGTGACGG	0.577																																					.													.	.			0			c.3180+1G>T												92	67	76					9																	140707983		2203	4300	6503	SO:0001630	splice_region_variant	79813	exon21			CTGCAGGTGAGTG	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3180+1G>T	9.37:g.140707983G>T			25	0	0		45	0.07	3	NM_024757	0		0	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Splice_Site	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681467	0.29872	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.431	0.90625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EHMT1	139827804	1.000000	0.71417	0.996000	0.52242	0.049000	0.14656	9.704000	0.98716	2.327000	0.79052	0.655000	0.94253	.			0.577	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055371.2		NM_024757	Intron	T	140707983	G	T	140707983	5	4	132	1	0	0	0	0	0	0	1	0	4988	1275	44	3	3312	3	EHMT1	9	140707983	Splice_Site	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	9240192	140707983	505448	24	9804											
PFKFB3	5209	mdanderson.org	37	chr10	6263368	6263368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctctgagcaagttcGtggaggagcagaacctgaag	11	7	14	9	1	1	3	0	2	1	1	2	5	1	5	2	2	4	4	2	2	3	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr10:6263368G>T	ENST00000379775.4	+	9	1186	c.856G>T	c.(856-858)Gtg>Ttg	p.V286L	PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000317350.4_Missense_Mutation_p.V286L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.V266L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.V286L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.V286L|PFKFB3_ENST00000379782.3_Missense_Mutation_p.V286L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.V300L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	286	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						GAGCAAGTTCGTGGAGGAGCA	0.637																																					p.V286L													.	.			0			c.G856T												50	41	44					10																	6263368		2203	4300	6503	SO:0001583	missense	5209	exon9			AAGTTCGTGGAGG		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.856G>T	10.37:g.6263368G>T	ENSP00000369100:p.Val286Leu		85	0	0		64	0.05	3	NM_004566	16	0	0	B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.902994|1.902994	0.33628|0.33628	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000450232|ENST00000379789;ENST00000379784;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.|T;T;T;T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.5|5.5	3.54|3.54	0.40534|0.40534	.|Histidine phosphatase superfamily, clade-1 (2);	.|0.214744	.|0.42682	.|D	.|0.000668	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.01656|0.01656	-0.775|-0.775	0.58432|0.58432	D|D	0.999991|0.999991	.|B;B;B;B	.|0.10296	.|0.003;0.001;0.003;0.002	.|B;B;B;B	.|0.14578	.|0.007;0.003;0.009;0.011	T|T	0.05616|0.05616	-1.0874|-1.0874	5|10	.|0.29301	.|T	.|0.29	-4.1036|-4.1036	11.9007|11.9007	0.52682|0.52682	0.0684:0.1223:0.8094:0.0|0.0684:0.1223:0.8094:0.0	.|.	.|300;286;286;266	.|B7Z955;Q16875-2;Q16875;Q5VX15	.|.;.;F263_HUMAN;.	L|L	1|266;47;300;286;286;286;286;286;286	.|ENSP00000369115:V266L;ENSP00000446384:V300L;ENSP00000369105:V286L;ENSP00000369111:V286L;ENSP00000369108:V286L;ENSP00000353712:V286L;ENSP00000369100:V286L	.|ENSP00000369105:V286L	R|V	+|+	2|1	0|0	PFKFB3|PFKFB3	6303374|6303374	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.929000|0.929000	0.56500|0.56500	3.079000|3.079000	0.50104|0.50104	1.454000|1.454000	0.47793|0.47793	0.655000|0.655000	0.94253|0.94253	CGT|GTG			0.637	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000046647.1				T	6263368	G	T	6263368	3	4	132	1	0	0	0	0	1	0	0	0	11779	1145	40	1	910	1	PFKFB3	10	6263368	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		6263368	129271379	25	9805											
PCDH15	65217	broad.mit.edu	37	chr10	55582229	55582229	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaggagaaggaggagaaaTaggaggaggagggggaaggg	16	1	24	0	0	0	2	0	0	0	2	0	10	0	8	0	10	0	0	0	10	4	1	rs564747270|rs397517462|rs369404101	byFrequency	TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr10:55582229T>G	ENST00000320301.6	-	33	5651	c.5257A>C	c.(5257-5259)Att>Ctt	p.I1753L	PCDH15_ENST00000395433.1_Missense_Mutation_p.I1730L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1684L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1713L|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1755L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1750L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1753					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.I1760V(1)|p.I1753V(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)				ggaggagaaataggaggagga	0.463										HNSCC(58;0.16)			T|||	2	0.000399361	0	0	5008	,	,		18593	0		0.001	False		,,,				2504	0.001				p.I1760L													PCDH15_ENST00000417177,colon,carcinoma,0,2	PCDH15	1715	2	2	Substitution - Missense(2)	large_intestine(2)	c.A5278C												17	18	17					10																	55582229		2202	4299	6501	SO:0001583	missense	65217	exon35			GAGAAATAGGAGG	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.5257A>C	10.37:g.55582229T>G	ENSP00000322604:p.Ile1753Leu		51	0.0392156863	2		51	0.12	6	NM_001142763	0		0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	8.079	0.771876	0.16051	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56103	0.51;0.48;0.53;0.49;0.49;0.49	4.43	-7.97	0.01139	.	.	.	.	.	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.23726	-1.0180	9	0.08837	T	0.75	.	0.6259	0.00786	0.2986:0.3001:0.1876:0.2136	.	1730;1753;1755;1760;1684;1713;1750;1753	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1713;1755;1730;1753;1750;1760;1684	ENSP00000378820:I1713L;ENSP00000354950:I1755L;ENSP00000378821:I1730L;ENSP00000322604:I1753L;ENSP00000378818:I1750L;ENSP00000412628:I1684L	ENSP00000322604:I1753L	I	-	1	0	PCDH15	55252235	0.170000	0.23016	0.000000	0.03702	0.015000	0.08874	0.703000	0.25646	-1.960000	0.01017	-0.464000	0.05259	ATT			0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000048121.2		NM_033056		G	55582229	T	G	55582229	3	3	132	1	0	0	0	0	1	0	0	0	11528	1406	49	4	2220	4	PCDH15	10	55582229	Missense_Mutation	SNP	T	TCGA-YU-A90S-01A-11D-A435-10	49318861	55582229	79952518	26	9806											
FRAT2	23401	mdanderson.org	37	chr10	99093719	99093719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcttgcggggcccgtggctGcaaccgcggcgacggctcgt	3	6	17	15	8	0	0	0	0	0	0	1	1	0	0	2	5	3	4	2	5	1	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr10:99093719G>T	ENST00000371019.2	-	1	739	c.611C>A	c.(610-612)gCa>gAa	p.A204E	RP11-452K12.4_ENST00000445808.2_RNA	NM_012083.2	NP_036215.1	O75474	FRAT2_HUMAN	frequently rearranged in advanced T-cell lymphomas 2	204					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|Wnt signaling pathway (GO:0016055)					lung(1)	1		Colorectal(252;0.0846)		Epithelial(162;1.34e-09)|all cancers(201;8.42e-08)		GCCCGTGGCTGCAACCGCGGC	0.711																																					p.A204E													.	.			0			c.C611A												4	7	6					10																	99093719		1923	3933	5856	SO:0001583	missense	23401	exon1			GTGGCTGCAACCG	AF062739	CCDS7456.1	10q23-q24.1	2008-08-01			ENSG00000181274	ENSG00000181274			16048	protein-coding gene	gene with protein product	"GSK-3 binding protein FRAT2"	605006				9635432, 11237732	Standard	NM_012083		Approved		uc001knd.1	O75474	OTTHUMG00000018850	ENST00000371019.2:c.611C>A	10.37:g.99093719G>T	ENSP00000360058:p.Ala204Glu		15	0	0		15	0.13	2	NM_012083	53	0	0	Q5JTI0|Q8WUL9|Q9BYG2	Missense_Mutation	SNP	ENST00000371019.2	37	CCDS7456.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869245	0.32977	.	.	ENSG00000181274	ENST00000371019	.	.	.	4.26	3.27	0.37495	.	0.282417	0.23144	U	0.051432	T	0.35393	0.0930	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.16630	-1.0396	9	0.02654	T	1	-3.1221	11.1171	0.48266	0.0:0.1897:0.8103:0.0	.	204	O75474	FRAT2_HUMAN	E	204	.	ENSP00000360058:A204E	A	-	2	0	FRAT2	99083709	0.595000	0.26857	0.767000	0.31495	0.559000	0.35586	2.163000	0.42377	1.901000	0.55032	0.313000	0.20887	GCA			0.711	FRAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049676.1		NM_012083		T	99093719	G	T	99093719	3	4	132	1	0	0	0	0	1	0	0	0	6056	1319	46	2	94	2	FRAT2	10	99093719	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	43511490	99093719	36441028	27	9807											
RRP12	23223	mdanderson.org	37	chr10	99131871	99131871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtatagcttactgatggCagcttcgtcagcacacggag	10	9	13	9	2	1	1	1	1	0	0	2	3	1	3	0	3	4	5	0	3	3	4			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr10:99131871C>A	ENST00000370992.4	-	20	2413	c.2302G>T	c.(2302-2304)Gcc>Tcc	p.A768S	RRP12_ENST00000315563.6_Missense_Mutation_p.A668S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.A486S|RRP12_ENST00000414986.1_Missense_Mutation_p.A707S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	768						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTACTGATGGCAGCTTCGTCA	0.642																																					p.A768S													.	.			0			c.G2302T												90	73	78					10																	99131871		2203	4300	6503	SO:0001583	missense	23223	exon20			TGATGGCAGCTTC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2302G>T	10.37:g.99131871C>A	ENSP00000360031:p.Ala768Ser		60	0.0166666667	1		53	0.06	3	NM_015179	58	0	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	4.796	0.147950	0.09134	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.71	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.231303	0.45867	D	0.000336	T	0.29945	0.0749	N	0.02802	-0.49	0.37587	D	0.920056	B;B;B;B	0.15473	0.013;0.003;0.004;0.007	B;B;B;B	0.14023	0.002;0.01;0.007;0.002	T	0.36890	-0.9729	10	0.02654	T	1	-22.6223	8.6944	0.34287	0.2642:0.6532:0.0:0.0826	.	707;668;486;768	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	S	768;668;707;486	ENSP00000360031:A768S;ENSP00000324315:A668S;ENSP00000414863:A707S;ENSP00000446184:A486S	ENSP00000324315:A668S	A	-	1	0	RRP12	99121861	0.109000	0.22037	0.996000	0.52242	0.662000	0.39071	0.449000	0.21744	2.684000	0.91462	0.655000	0.94253	GCC			0.642	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049699.4		NM_015179		A	99131871	C	A	99131871	3	1	132	1	0	0	0	0	1	0	0	0	13709	710	25	2	1651	2	RRP12	10	99131871	Missense_Mutation	SNP	C	TCGA-YU-A90S-01A-11D-A435-10	38152	99131871	36402876	28	9808											
TMEM179B	374395	broad.mit.edu	37	chr11	62556810	62556810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatctcagctatagccGtcttcctggtcttggtgtct	4	15	10	12	1	4	0	1	0	4	0	6	0	5	0	3	3	2	1	3	3	2	4			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr11:62556810G>T	ENST00000333449.4	+	3	336	c.331G>T	c.(331-333)Gtc>Ttc	p.V111F	TMEM223_ENST00000527073.1_Intron|RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_Missense_Mutation_p.V111F	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	111						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						AGCTATAGCCGTCTTCCTGGT	0.522																																					p.V111F													TMEM179B,NS,carcinoma,0,1	TMEM179B	13	1	0			c.G331T												116	88	97					11																	62556810		2201	4299	6500	SO:0001583	missense	374395	exon3			ATAGCCGTCTTCC	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.331G>T	11.37:g.62556810G>T	ENSP00000333697:p.Val111Phe		152	0	0		181	0.02	4	NM_199337	196	0	0		Missense_Mutation	SNP	ENST00000333449.4	37	CCDS8036.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.37|16.37	3.103732|3.103732	0.56291|0.56291	.|.	.|.	ENSG00000185475|ENSG00000185475	ENST00000526546|ENST00000533861;ENST00000333449	.|.	.|.	.|.	5.92|5.92	-0.272|-0.272	0.12919|0.12919	.|.	.|0.520091	.|0.22296	.|N	.|0.061940	T|T	0.16085|0.16085	0.0387|0.0387	N|N	0.14661|0.14661	0.345|0.345	0.20821|0.20821	N|N	0.999843|0.999843	.|P	.|0.37636	.|0.603	.|B	.|0.34346	.|0.18	T|T	0.29366|0.29366	-1.0014|-1.0014	5|9	.|0.16896	.|T	.|0.51	.|.	8.839|8.839	0.35131|0.35131	0.536:0.0:0.464:0.0|0.536:0.0:0.464:0.0	.|.	.|111	.|Q7Z7N9	.|T179B_HUMAN	L|F	30|111	.|.	.|ENSP00000333697:V111F	R|V	+|+	2|1	0|0	TMEM179B|TMEM179B	62313386|62313386	0.234000|0.234000	0.23783|0.23783	0.690000|0.690000	0.30148|0.30148	0.982000|0.982000	0.71751|0.71751	-0.153000|-0.153000	0.10144|0.10144	-0.068000|-0.068000	0.12953|0.12953	-0.415000|-0.415000	0.06103|0.06103	CGT|GTC			0.522	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395362.2		NM_199337		T	62556810	G	T	62556810	3	4	132	1	0	0	0	0	1	0	0	0	16120	1145	40	1	341	1	TMEM179B	11	62556810	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		62556810	72449706	29	9809											
ESRRA	2101	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr11	64082666	64082666	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggctgccctgctgcaactAgtgcggcggctgcaggccct	4	7	16	14	2	0	0	0	0	0	0	0	0	0	0	2	5	6	5	2	5	2	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr11:64082666A>G	ENST00000405666.1	+	6	1170	c.936A>G	c.(934-936)ctA>ctG	p.L312L	ESRRA_ENST00000000442.6_Silent_p.L312L|ESRRA_ENST00000406310.1_Silent_p.L311L|PRDX5_ENST00000347941.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank|PRDX5_ENST00000265462.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	312	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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 (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L312L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGCTGCAACTAGTGCGGCGGC	0.632																																					p.L312L													ESRRA,colon,carcinoma,0,1	ESRRA	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.A936G												22	26	24					11																	64082666		1970	4152	6122	SO:0001819	synonymous_variant	2101	exon6			GCAACTAGTGCGG	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.936A>G	11.37:g.64082666A>G			66	0	0		73	0.07	5	NM_004451	71	0	0	Q14514	Silent	SNP	ENST00000405666.1	37	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	A	4.821	0.152670	0.09185	.	.	ENSG00000173153	ENST00000545035	.	.	.	4.14	-1.69	0.08186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7674	0.28988	0.1792:0.5573:0.2635:0.0	.	.	.	.	W	93	.	.	X	+	2	0	ESRRA	63839242	1.000000	0.71417	0.987000	0.45799	0.861000	0.49209	1.544000	0.36158	-0.417000	0.07461	-0.381000	0.06696	TAG			0.632	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000319304.1		NM_004451		G	64082666	A	G	64082666	2	3	132	1	0	0	0	0	0	0	0	1	5267	407	15	4		4	ESRRA	11	64082666	Silent	SNP	A	TCGA-YU-A90S-01A-11D-A435-10	1525856	64082666	70923850	30	9810											
TECTA	7007	broad.mit.edu	37	chr11	120980079	120980079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagagaccatggagcctGccatcttgaaaagagccacc	14	5	10	12	0	1	4	0	1	1	3	1	6	1	5	5	1	3	0	5	1	2	1	rs370688947		TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr11:120980079G>A	ENST00000392793.1	+	4	629	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	TECTA_ENST00000264037.2_Missense_Mutation_p.A120T			O75443	TECTA_HUMAN	tectorin alpha	120	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CATGGAGCCTGCCATCTTGAA	0.502																																					p.A120T													.	TECTA	329		0			c.G358A												103	101	102					11																	120980079		2203	4299	6502	SO:0001583	missense	7007	exon3			GAGCCTGCCATCT	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.358G>A	11.37:g.120980079G>A	ENSP00000376543:p.Ala120Thr		137	0	0		144	0.03	4	NM_005422	1	0	0		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695609	0.48202	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.37411	1.2;1.2	5.57	5.57	0.84162	Nidogen, extracellular domain (2);	0.351126	0.28983	N	0.013505	T	0.37237	0.0996	L	0.49256	1.55	0.40470	D	0.980332	B	0.09022	0.002	B	0.14023	0.01	T	0.12192	-1.0557	10	0.27082	T	0.32	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	120	O75443	TECTA_HUMAN	T	120	ENSP00000376543:A120T;ENSP00000264037:A120T	ENSP00000264037:A120T	A	+	1	0	TECTA	120485289	1.000000	0.71417	0.974000	0.42286	0.988000	0.76386	6.756000	0.74919	2.630000	0.89119	0.655000	0.94253	GCC			0.502	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313850.1		NM_005422		A	120980079	G	A	120980079	3	1	132	1	0	0	0	0	1	0	0	0	15770	1319	46	2	368	2	TECTA	11	120980079	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	56897413	120980079	14026437	31	9811											
BCL11B	64919	hgsc.bcm.edu	37	chr14	99641568	99641568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcgtcctcctcctccggctc	0	13	3	25	2	0	0	0	0	0	0	13	0	11	0	11	1	0	1	11	1	0	0			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr14:99641568C>G	ENST00000357195.3	-	4	1614	c.1605G>C	c.(1603-1605)gaG>gaC	p.E535D	BCL11B_ENST00000443726.2_Missense_Mutation_p.E341D|BCL11B_ENST00000345514.2_Missense_Mutation_p.E464D	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	535	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)	p.E535_E536delEE(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cctcctcctcctcgtcctcct	0.697			T	TLX3	T-ALL																																p.E535D				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	BCL11B,colon,carcinoma,0,1	BCL11B	0	1	1	Deletion - In frame(1)	prostate(1)	c.G1605C												5	5	5					14																	99641568		2084	4070	6154	SO:0001583	missense	64919	exon4			CTCCTCCTCGTCC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1605G>C	14.37:g.99641568C>G	ENSP00000349723:p.Glu535Asp		14	0	0		16	0.13	2	NM_138576	0		0	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167616	0.38315	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.13657	2.57;2.6;2.57	3.81	0.863	0.19062	.	0.158674	0.40144	N	0.001176	T	0.07324	0.0185	N	0.22421	0.69	0.40982	D	0.984788	B;B	0.31413	0.322;0.185	B;B	0.31390	0.129;0.048	T	0.38394	-0.9663	10	0.30854	T	0.27	-8.4478	4.8239	0.13407	0.0:0.4986:0.1502:0.3512	.	464;535	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	D	535;464;341	ENSP00000349723:E535D;ENSP00000280435:E464D;ENSP00000387419:E341D	ENSP00000280435:E464D	E	-	3	2	BCL11B	98711321	0.591000	0.26824	0.998000	0.56505	0.990000	0.78478	-0.193000	0.09573	-0.059000	0.13154	0.561000	0.74099	GAG			0.697	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000072332.2		NM_138576		G	99641568	C	G	99641568	3	3	132	1	0	0	0	0	1	0	0	0	1364	680	24	5	1083	5	BCL11B	14	99641568	Missense_Mutation	SNP	C	TCGA-YU-A90S-01A-11D-A435-10		99641568	7707972	32	9812											
CDC42BPB	9578	mdanderson.org	37	chr14	103410270	103410270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgagctcctgcgcgcGtgccctccggccttgcgggt	3	8	13	17	5	0	1	0	1	0	0	2	1	2	1	5	2	4	1	5	2	0	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr14:103410270G>A	ENST00000361246.2	-	30	4654	c.4366C>T	c.(4366-4368)Cgc>Tgc	p.R1456C		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTGCGCGCGTGCCCTCCGG	0.567																																					p.R1456C													.	.			0			c.C4366T												56	45	49					14																	103410270		2203	4300	6503	SO:0001583	missense	9578	exon30			GCGCGCGTGCCCT	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4366C>T	14.37:g.103410270G>A	ENSP00000355237:p.Arg1456Cys		46	0	0		54	0.06	3	NM_006035	32	0	0		Missense_Mutation	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050743	0.75960	.	.	ENSG00000198752	ENST00000361246	T	0.07114	3.22	5.4	4.5	0.54988	Citron-like (3);	0.053822	0.85682	D	0.000000	T	0.34542	0.0901	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.40776	-0.9545	10	0.87932	D	0	.	15.7524	0.77997	0.0:0.0:0.8623:0.1377	.	1456;1456	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	C	1456	ENSP00000355237:R1456C	ENSP00000355237:R1456C	R	-	1	0	CDC42BPB	102480023	1.000000	0.71417	0.809000	0.32408	0.997000	0.91878	6.541000	0.73865	1.385000	0.46445	0.655000	0.94253	CGC			0.567	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415711.1		NM_006035		A	103410270	G	A	103410270	3	1	132	1	0	0	0	0	1	0	0	0	3075	1145	40	1	801	1	CDC42BPB	14	103410270	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	3768702	103410270	3939270	33	9813											
RAB11A	8766	mdanderson.org	37	chr15	66170130	66170130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtaggtgccttattGgtttatgacattgctaaaca	10	14	11	6	0	0	1	0	1	0	0	0	2	0	2	1	3	4	4	1	3	5	7			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr15:66170130G>T	ENST00000261890.2	+	3	395	c.267G>T	c.(265-267)ttG>ttT	p.L89F	RAB11A_ENST00000569896.1_Missense_Mutation_p.L89F|RAB11A_ENST00000565075.1_Missense_Mutation_p.L89F|RAB11A_ENST00000435304.2_Missense_Mutation_p.L89F|RAB11A_ENST00000564910.1_Intron	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	89					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						GTGCCTTATTGGTTTATGACA	0.368																																					p.L89F													.	.			0			c.G267T												133	121	125					15																	66170130		2201	4299	6500	SO:0001583	missense	8766	exon3			CTTATTGGTTTAT	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"RAB, member RAS oncogene"	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.267G>T	15.37:g.66170130G>T	ENSP00000261890:p.Leu89Phe		88	0	0		138	0.04	5	NM_004663	114	0	0	B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	37	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753920	0.69648	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	D;D	0.81739	-1.53;-1.53	5.27	4.36	0.52297	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.76575	0.958;0.988	D	0.89729	0.3925	10	0.87932	D	0	.	13.8327	0.63391	0.0741:0.0:0.9259:0.0	.	89;89	B4DT13;P62491	.;RB11A_HUMAN	F	89	ENSP00000261890:L89F;ENSP00000405767:L89F	ENSP00000261890:L89F	L	+	3	2	RAB11A	63957184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.601000	0.61090	1.222000	0.43521	0.655000	0.94253	TTG			0.368	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256864.1				T	66170130	G	T	66170130	3	4	132	1	0	0	0	0	1	0	0	0	12914	1339	47	3	277	3	RAB11A	15	66170130	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		66170130	36361262	34	9814											
WDR24	84219	mdanderson.org	37	chr16	737362	737362	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccttggcacggtgcgtGgtcatgtcccagaccttcac	6	11	10	14	2	3	1	2	0	1	1	5	1	4	1	3	3	1	1	3	3	0	2			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr16:737362G>T	ENST00000248142.6	-	7	1103	c.1104C>A	c.(1102-1104)acC>acA	p.T368T	JMJD8_ENST00000562824.1_5'Flank|WDR24_ENST00000293883.4_Silent_p.T238T|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000293882.4_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000454700.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	368										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CACGGTGCGTGGTCATGTCCC	0.642																																					p.T238T													.	.			0			c.C714A												67	65	65					16																	737362		2200	4299	6499	SO:0001819	synonymous_variant	84219	exon3			GTGCGTGGTCATG	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1104C>A	16.37:g.737362G>T			39	0	0		32	0.09	3	NM_032259	16	0	0	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	37																																																																																						0.642	WDR24-201	KNOWN	basic	protein_coding	protein_coding				NM_032259		T	737362	G	T	737362	2	4	132	1	0	0	0	0	0	0	0	1	17305	1335	47	3		3	WDR24	16	737362	Silent	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		737362	89617391	35	9815											
HSF4	3299	mdanderson.org	37	chr16	67203614	67203614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccctgggcctgcctgggGctttaaccatttatagcact	7	11	10	13	0	0	0	0	0	0	0	0	0	0	0	4	3	4	2	4	3	3	5			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr16:67203614G>T	ENST00000521374.1	+	13	1405	c.1405G>T	c.(1405-1407)Gct>Tct	p.A469S	HSF4_ENST00000584272.1_Missense_Mutation_p.A439S|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.A469S|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000421453.1_Missense_Mutation_p.A439S			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	469					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)		CCTGCCTGGGGCTTTAACCAT	0.667											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A469S													.	.			0			c.G1405T												45	51	49					16																	67203614		1840	4087	5927	SO:0001583	missense	3299	exon15			CCTGGGGCTTTAA	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.1405G>T	16.37:g.67203614G>T	ENSP00000430947:p.Ala469Ser		49	0	0	1097	53	0.06	3	NM_001040667	7	0	0	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.512387|4.512387	0.85389|0.85389	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374|ENST00000519601	.|.	.|.	.|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.128188|.	0.35739|.	N|.	0.003010|.	T|T	0.33789|0.33789	0.0875|0.0875	N|N	0.12746|0.12746	0.255|0.255	0.30005|0.30005	N|N	0.815694|0.815694	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.80764|.	0.994;0.985|.	T|T	0.36040|0.36040	-0.9764|-0.9764	9|6	0.05833|0.66056	T|D	0.94|0.02	-27.7356|-27.7356	13.1608|13.1608	0.59542|0.59542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	439;469|.	Q9ULV5-2;Q9ULV5|.	.;HSF4_HUMAN|.	S|V	439;469;393;469|200	.|.	ENSP00000264009:A469S|ENSP00000428077:G200V	A|G	+|+	1|2	0|0	HSF4|HSF4	65761115|65761115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.552000|4.552000	0.60747|0.60747	2.552000|2.552000	0.86080|0.86080	0.563000|0.563000	0.77884|0.77884	GCT|GGC			0.667	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375080.1		NM_001538		T	67203614	G	T	67203614	3	4	132	1	0	0	0	0	1	0	0	0	7413	1203	42	2	1469	2	HSF4	16	67203614	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	66466252	67203614	23151139	36	9816											
ANKRD11	29123	broad.mit.edu;bcgsc.ca	37	chr16	89351844	89351844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtttcttttctgtagtccTttttcaataggtgcttgtcg	4	21	8	8	2	3	0	1	0	2	0	6	0	4	0	1	1	1	3	1	1	3	8			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr16:89351844T>C	ENST00000301030.4	-	9	1566	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369					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)		TCTGTAGTCCTTTTTCAATAG	0.453																																					p.K369R													.	ANKRD11	195		0			c.A1106G												158	162	160					16																	89351844		2198	4300	6498	SO:0001583	missense	29123	exon9			TAGTCCTTTTTCA	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.1106A>G	16.37:g.89351844T>C	ENSP00000301030:p.Lys369Arg		188	0.0053191489	1		177	0.04	7	NM_001256183	34	0	0	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112102	0.56398	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.46063	0.88;0.88	5.4	5.4	0.78164	.	0.046390	0.85682	N	0.000000	T	0.63189	0.2490	M	0.71581	2.175	0.80722	D	1	D	0.59767	0.986	D	0.69654	0.965	T	0.66666	-0.5866	10	0.62326	D	0.03	.	15.4164	0.74974	0.0:0.0:0.0:1.0	.	369	Q6UB99	ANR11_HUMAN	R	369;369;383	ENSP00000301030:K369R;ENSP00000367581:K369R	ENSP00000301030:K369R	K	-	2	0	ANKRD11	87879345	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.836000	0.86788	2.052000	0.61016	0.460000	0.39030	AAG			0.453	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275		C	89351844	T	C	89351844	3	2	132	1	0	0	0	0	1	0	0	0	639	1609	56	4	6905	4	ANKRD11	16	89351844	Missense_Mutation	SNP	T	TCGA-YU-A90S-01A-11D-A435-10	22148230	89351844	1002909	37	9817											
SPOP	8405	broad.mit.edu	37	chr17	47688679	47688679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctggaattcctggccGgcaacacacaagcagcagtc	11	6	11	13	1	0	1	0	1	0	0	2	2	1	2	3	3	4	3	3	3	3	1	rs148282868		TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr17:47688679G>A	ENST00000393328.2	-	7	986	c.621C>T	c.(619-621)gcC>gcT	p.A207A	SPOP_ENST00000503676.1_Silent_p.A207A|SPOP_ENST00000393331.3_Silent_p.A207A|SPOP_ENST00000347630.2_Silent_p.A207A|SPOP_ENST00000504102.1_Silent_p.A207A	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	207	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.				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						ATTCCTGGCCGGCAACACACA	0.453										Prostate(2;0.17)																											p.A207A													.	SPOP	91		0			c.C621T							G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	110	115	113		621,621,621,621,621,621	3.2	1	17	dbSNP_134	113	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPOP	NM_001007226.1,NM_001007227.1,NM_001007228.1,NM_001007229.1,NM_001007230.1,NM_003563.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	207/375,207/375,207/375,207/375,207/375,207/375	47688679	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8405	exon6			CTGGCCGGCAACA	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.621C>T	17.37:g.47688679G>A			99	0	0		138	0.02	3	NM_001007228	40	0	0	B2R6S3|D3DTW7|Q53HJ1	Silent	SNP	ENST00000393328.2	37	CCDS11551.1																																																																																					0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365154.2		NM_003563		A	47688679	G	A	47688679	2	1	132	1	0	0	0	0	0	0	0	1	15107	1103	39	1		1	SPOP	17	47688679	Silent	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		47688679	33506531	38	9818											
PRPSAP1	5635	mdanderson.org	37	chr17	74349677	74349677	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgagaagactcggtaGccggtgcgagcggcgttcat	7	8	16	10	6	1	2	1	0	0	2	2	4	1	2	2	4	3	2	2	4	2	3			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr17:74349677G>T	ENST00000446526.3	-	1	553	c.108C>A	c.(106-108)ggC>ggA	p.G36G	PRPSAP1_ENST00000324684.4_Intron	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	7					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AGACTCGGTAGCCGGTGCGAG	0.751																																					p.G36G													.	.			0			c.C108A												4	4	4					17																	74349677		1975	3973	5948	SO:0001819	synonymous_variant	5635	exon1			TCGGTAGCCGGTG	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.108C>A	17.37:g.74349677G>T			29	0	0		47	0.06	3	NM_002766	35	0	0	B2R6M4|Q96H06	Silent	SNP	ENST00000446526.3	37	CCDS11743.2																																																																																					0.751	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342480.2		NM_002766		T	74349677	G	T	74349677	2	4	132	1	0	0	0	0	0	0	0	1	12601	958	34	2		2	PRPSAP1	17	74349677	Silent	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	26660998	74349677	6845533	39	9819											
KEAP1	9817	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	10610444	10610444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccatgaactgggcggccGgtgcatcctggtacttgacc	6	8	15	12	2	0	2	0	2	0	0	1	2	1	2	4	5	3	2	4	5	2	2			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr19:10610444G>A	ENST00000171111.5	-	2	813	c.266C>T	c.(265-267)cCg>cTg	p.P89L	KEAP1_ENST00000393623.2_Missense_Mutation_p.P89L|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)	CTGGGCGGCCGGTGCATCCTG	0.612																																					p.P89L													.	.			0			c.C266T												95	72	80					19																	10610444		2203	4300	6503	SO:0001583	missense	9817	exon2			GCGGCCGGTGCAT	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.266C>T	19.37:g.10610444G>A	ENSP00000171111:p.Pro89Leu		87	0	0		89	0.04	4	NM_012289	40	0	0	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981897	0.34942	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72282	-0.64;-0.64	4.68	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.234176	0.44097	D	0.000491	T	0.53818	0.1820	L	0.33293	1	0.41368	D	0.987472	P	0.36378	0.55	B	0.28784	0.094	T	0.56238	-0.8012	10	0.33940	T	0.23	.	10.3791	0.44101	0.0:0.0:0.8042:0.1958	.	89	Q14145	KEAP1_HUMAN	L	89	ENSP00000171111:P89L;ENSP00000377245:P89L	ENSP00000171111:P89L	P	-	2	0	KEAP1	10471444	1.000000	0.71417	0.048000	0.18961	0.137000	0.21094	4.407000	0.59754	2.162000	0.67917	0.462000	0.41574	CCG			0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452000.1		NM_012289		A	10610444	G	A	10610444	3	1	132	1	0	0	0	0	1	0	0	0	8156	1116	39	1	1628	1	KEAP1	19	10610444	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10		10610444	48518539	40	9820											
PSG4	5672	hgsc.bcm.edu;mdanderson.org	37	chr19	43699192	43699192	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcggatgccaccatatcGgtcccgtatttcacattgat	9	12	8	12	3	1	1	1	1	0	0	3	2	2	2	3	2	2	1	3	2	2	4	rs367853186		TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr19:43699192G>T	ENST00000405312.3	-	4	1180	c.943C>A	c.(943-945)Cga>Aga	p.R315R	PSG4_ENST00000433626.2_Silent_p.R222R|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	315	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCACCATATCGGTCCCGTATT	0.488																																					p.H315N													.	.			0			c.C943A												154	140	145					19																	43699192		2201	4293	6494	SO:0001819	synonymous_variant	5672	exon4			CATATCGGTCCCG		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.943C>A	19.37:g.43699192G>T			42	0	0		55	0.07	4	NM_002780	0		0	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1																																																																																					0.488	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323073.1		NM_213633		T	43699192	G	T	43699192	2	4	132	1	0	0	0	0	0	0	0	1	12677	1124	39	1		1	PSG4	19	43699192	Silent	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	33088748	43699192	15429791	41	9821											
PRR12	57479	mdanderson.org	37	chr19	50117808	50117808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcgttgcagacggggCgtgaacccccacccatctgg	7	6	14	14	3	1	2	0	1	1	1	1	2	1	2	3	4	3	3	3	4	1	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr19:50117808C>T	ENST00000418929.2	+	7	4804	c.4792C>T	c.(4792-4794)Cgt>Tgt	p.R1598C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	777							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)		GCAGACGGGGCGTGAACCCCC	0.617																																					p.R1598C													.	.			0			c.C4792T												18	21	20					19																	50117808		2015	4126	6141	SO:0001583	missense	57479	exon7			ACGGGGCGTGAAC	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.4792C>T	19.37:g.50117808C>T	ENSP00000394510:p.Arg1598Cys		35	0	0		28	0.11	3	NM_020719	48	0	0	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334890	0.24253	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.12	4.12	0.48240	.	0.000000	0.42964	D	0.000640	T	0.66607	0.2806	L	0.46157	1.445	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.68644	-0.5354	9	0.87932	D	0	-13.9369	9.3298	0.38014	0.3405:0.6595:0.0:0.0	.	1598	Q9ULL5-3	.	C	1598;778;778	.	ENSP00000246798:R778C	R	+	1	0	PRR12	54809620	0.667000	0.27484	0.630000	0.29268	0.060000	0.15804	1.331000	0.33793	2.147000	0.66899	0.467000	0.42956	CGT			0.617	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465915.1		NM_020719		T	50117808	C	T	50117808	3	4	132	1	0	0	0	0	1	0	0	0	12604	768	27	1	4818	1	PRR12	19	50117808	Missense_Mutation	SNP	C	TCGA-YU-A90S-01A-11D-A435-10	6418616	50117808	9011175	42	9822											
MBOAT7	79143	broad.mit.edu	37	chr19	54682579	54682579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcatgccatcgcgcacccGcacgcagaaatctgtgctgt	8	7	10	16	5	1	1	0	0	1	1	2	1	1	1	3	0	2	5	3	0	1	0			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr19:54682579G>A	ENST00000245615.1	-	7	1414	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	MBOAT7_ENST00000391754.1_Missense_Mutation_p.R312W|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R239W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R239W	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	312					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCGCGCACCCGCACGCAGAAA	0.592																																					p.R312W	NSCLC(97;826 2151 10470 22540)												.	MBOAT7	37		0			c.C934T												85	64	71					19																	54682579		2203	4300	6503	SO:0001583	missense	79143	exon7			GCACCCGCACGCA	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.934C>T	19.37:g.54682579G>A	ENSP00000245615:p.Arg312Trp		160	0.00625	1		164	0.02	4	NM_001146082	99	0	0	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901211	0.72754	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615;ENST00000391754	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.64	3.58	0.41010	.	0.153481	0.42548	U	0.000694	T	0.72407	0.3456	L	0.44542	1.39	0.36791	D	0.884843	D;D;D	0.69078	0.964;0.997;0.964	P;P;B	0.50708	0.536;0.648;0.373	T	0.78237	-0.2282	10	0.66056	D	0.02	-16.4567	11.0519	0.47894	0.0:0.0:0.5392:0.4608	.	294;239;312	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	W	239;239;312;312	ENSP00000410503:R239W;ENSP00000344377:R239W;ENSP00000245615:R312W;ENSP00000375634:R312W	ENSP00000245615:R312W	R	-	1	2	MBOAT7	59374391	1.000000	0.71417	0.919000	0.36401	0.851000	0.48451	4.041000	0.57339	1.064000	0.40671	0.586000	0.80456	CGG			0.592	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142203.1		NM_024298		A	54682579	G	A	54682579	3	1	132	1	0	0	0	0	1	0	0	0	9374	1086	38	1	496	1	MBOAT7	19	54682579	Missense_Mutation	SNP	G	TCGA-YU-A90S-01A-11D-A435-10	4564771	54682579	4446404	43	9823											
ZNF579	163033	mdanderson.org	37	chr19	56090220	56090220	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcttggggcgtggcgggggCcccccttccccttcctgttc	0	10	14	17	3	0	0	0	0	0	0	3	0	2	0	6	5	0	2	6	5	0	4			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr19:56090220C>G	ENST00000325421.4	-	2	814	c.786G>C	c.(784-786)ggG>ggC	p.G262G	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GTGGCGGGGGCCCCCCTTCCC	0.716																																					p.G262G													.	.			0			c.G786C												16	20	19					19																	56090220		2198	4295	6493	SO:0001819	synonymous_variant	163033	exon2			CGGGGGCCCCCCT	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.786G>C	19.37:g.56090220C>G			91	0.043956044	4		112	0.17	19	NM_152600	12	0	0		Silent	SNP	ENST00000325421.4	37	CCDS12927.1																																																																																					0.716	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453348.1		NM_152600		G	56090220	C	G	56090220	2	3	132	1	0	0	0	0	0	0	0	1	18034	726	26	5		5	ZNF579	19	56090220	Silent	SNP	C	TCGA-YU-A90S-01A-11D-A435-10	1407641	56090220	3038763	44	9824											
GATSL3	652968	mdanderson.org	37	chr22	30682339	30682339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggagctgggttcaggaCtgctagaggctgcctccttg	6	11	15	9	0	1	2	1	1	0	1	2	4	2	4	2	4	3	4	2	4	1	3			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr22:30682339C>A	ENST00000407689.3	-	6	785	c.656G>T	c.(655-657)aGt>aTt	p.S219I	GATSL3_ENST00000459785.1_Intron|GATSL3_ENST00000404953.3_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	219										breast(1)|endometrium(1)|lung(1)	3						GGGTTCAGGACTGCTAGAGGC	0.572																																					p.S219I													.	.			0			c.G656T												76	91	86					22																	30682339		2083	4218	6301	SO:0001583	missense	652968	exon6			TCAGGACTGCTAG		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.656G>T	22.37:g.30682339C>A	ENSP00000384183:p.Ser219Ile		53	0	0		48	0.06	3	NM_001037666	41	0	0	O76052|Q96ND9|Q9UIE8	Missense_Mutation	SNP	ENST00000407689.3	37	CCDS43001.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201251	0.38905	.	.	ENSG00000239282	ENST00000407689	.	.	.	5.06	1.15	0.20763	.	1.158660	0.06306	N	0.701843	T	0.29817	0.0745	L	0.34521	1.04	0.09310	N	1	B	0.28512	0.214	B	0.22386	0.039	T	0.26087	-1.0113	9	0.45353	T	0.12	-9.2258	5.1079	0.14794	0.0:0.4418:0.308:0.2502	.	219	Q8WTX7	GATL3_HUMAN	I	219	.	ENSP00000384183:S219I	S	-	2	0	GATSL3	29012339	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	0.511000	0.22739	0.416000	0.25844	0.563000	0.77884	AGT			0.572	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320581.2		NM_001037666		A	30682339	C	A	30682339	3	1	132	1	0	0	0	0	1	0	0	0	6279	565	20	3	349	3	GATSL3	22	30682339	Missense_Mutation	SNP	C	TCGA-YU-A90S-01A-11D-A435-10		30682339	20622227	45	9825											
MTP18	51537	mdanderson.org	37	chr22	30821931	30821931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacacgtgggtgcgatacCtgggtgagcgcggggcgacg	6	5	21	9	6	0	1	0	1	0	0	0	4	0	2	1	5	3	0	1	5	1	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chr22:30821931C>A	ENST00000266263.5	+	1	414	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	MTFP1_ENST00000407550.3_Missense_Mutation_p.L22M|MTFP1_ENST00000355143.4_Missense_Mutation_p.L22M|RP4-539M6.19_ENST00000439838.1_Intron	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	22					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTGCGATACCTGGGTGAGCG	0.746											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L22M													.	.			0			c.C64A												7	13	11					22																	30821931		1640	3009	4649	SO:0001583	missense	51537	exon1			CGATACCTGGGTG	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.64C>A	22.37:g.30821931C>A	ENSP00000266263:p.Leu22Met		32	0	0	820	42	0.07	3	NM_016498	52	0	0	A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	ENST00000266263.5	37	CCDS33635.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066417	0.76187	.	.	ENSG00000242114	ENST00000266263;ENST00000355143;ENST00000407550	.	.	.	3.85	2.83	0.33086	.	0.000000	0.56097	U	0.000034	T	0.65207	0.2669	L	0.46947	1.48	0.80722	D	1	D;P	0.89917	1.0;0.891	D;P	0.91635	0.999;0.852	T	0.60347	-0.7281	9	0.30854	T	0.27	-1.7492	10.1048	0.42526	0.0:0.8984:0.0:0.1015	.	22;22	Q9UDX5-2;Q9UDX5	.;MTFP1_HUMAN	M	22	.	ENSP00000266263:L22M	L	+	1	2	MTFP1	29151931	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.809000	0.38922	0.824000	0.34613	0.453000	0.30009	CTG			0.746	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321126.3		NM_016498		A	30821931	C	A	30821931	3	1	132	1	0	0	0	0	1	0	0	0	9971	680	24	3	66	3	MTP18	22	30821931	Missense_Mutation	SNP	C	TCGA-YU-A90S-01A-11D-A435-10	139592	30821931	20482635	46	9826											
GATA1	2623	mdanderson.org	37	chrX	48651622	48651622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcaccaactgccagaCgaccaccacgacactgtggc	11	5	9	16	2	1	1	1	0	0	1	1	3	1	1	4	1	3	1	4	1	1	0			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chrX:48651622C>T	ENST00000376670.3	+	5	899	c.788C>T	c.(787-789)aCg>aTg	p.T263M	GATA1_ENST00000376665.3_Missense_Mutation_p.T263M	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	263					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AACTGCCAGACGACCACCACG	0.592			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																p.T263M	Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	.			0			c.C788T												168	112	131					X																	48651622		2203	4300	6503	SO:0001583	missense	2623	exon5			GCCAGACGACCAC	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.788C>T	X.37:g.48651622C>T	ENSP00000365858:p.Thr263Met		41	0	0		55	0.05	3	NM_002049	0		0	Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	CCDS14305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.6|21.6	4.168240|4.168240	0.78339|0.78339	.|.	.|.	ENSG00000102145|ENSG00000102145	ENST00000447551|ENST00000376670;ENST00000376665	.|D;D	.|0.99737	.|-6.59;-6.59	4.01|4.01	4.01|4.01	0.46588|0.46588	.|Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.99857	.|0.9933	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.96424	.|0.9314	.|10	.|0.87932	.|D	.|0	-8.6698|-8.6698	12.9188|12.9188	0.58220|0.58220	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|263	.|P15976	.|GATA1_HUMAN	X|M	28|263	.|ENSP00000365858:T263M;ENSP00000365853:T263M	.|ENSP00000365853:T263M	R|T	+|+	1|2	2|0	GATA1|GATA1	48536566|48536566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	7.342000|7.342000	0.79310|0.79310	1.995000|1.995000	0.58328|0.58328	0.287000|0.287000	0.19450|0.19450	CGA|ACG			0.592	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056517.1		NM_002049		T	48651622	C	T	48651622	3	4	132	1	0	0	0	0	1	0	0	0	6267	536	19	1	802	1	GATA1	23	48651622	Missense_Mutation	SNP	C	TCGA-YU-A90S-01A-11D-A435-10		48651622	106618938	47	9827											
TSPYL2	64061	broad.mit.edu	37	chrX	53112000	53112000	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgagtcggggtatggggAggcgcccccgcccacggaga	7	4	17	13	5	0	1	0	0	0	1	2	4	0	2	3	6	0	1	3	6	1	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chrX:53112000A>G	ENST00000375442.4	+	1	452	c.320A>G	c.(319-321)gAg>gGg	p.E107G		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	107					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						GGGTATGGGGAGGCGCCCCCG	0.622																																					p.E107G													.	TSPYL2	53		0			c.A320G												12	14	14					X																	53112000		2187	4269	6456	SO:0001583	missense	64061	exon1			ATGGGGAGGCGCC	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.320A>G	X.37:g.53112000A>G	ENSP00000364591:p.Glu107Gly		110	0	0		120	0.04	5	NM_022117	22	0	0	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	A	7.909	0.736140	0.15574	.	.	ENSG00000184205	ENST00000375442	T	0.29142	1.58	3.38	-0.801	0.10893	.	0.725545	0.11886	N	0.520051	T	0.27798	0.0684	M	0.65498	2.005	0.09310	N	0.999995	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.27839	-1.0062	10	0.48119	T	0.1	-22.7446	6.2452	0.20813	0.4954:0.0:0.5046:0.0	.	107;107	Q9H2G4;A8K8U7	TSYL2_HUMAN;.	G	107	ENSP00000364591:E107G	ENSP00000364591:E107G	E	+	2	0	TSPYL2	53128725	0.163000	0.22920	0.223000	0.23860	0.538000	0.34931	-0.037000	0.12164	-0.233000	0.09797	-0.528000	0.04320	GAG			0.622	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056718.1		NM_022117		G	53112000	A	G	53112000	3	3	132	1	0	0	0	0	1	0	0	0	16684	304	11	4	322	4	TSPYL2	23	53112000	Missense_Mutation	SNP	A	TCGA-YU-A90S-01A-11D-A435-10	4460378	53112000	102158560	48	9828											
CDX4	1046	broad.mit.edu	37	chrX	72667531	72667531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgccgccaaggccagtTcccccagcaggagccgccac	8	2	12	19	3	0	0	0	0	0	0	1	1	1	1	7	3	2	2	7	3	1	1			TCGA-YU-A90S-01A-11D-A435-10	TCGA-YU-A90S-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	786db3db-1833-4d7f-8168-a9f029de4c19	d44ef07d-f21c-4327-893b-536b55976470	g.chrX:72667531T>C	ENST00000373514.2	+	1	442	c.442T>C	c.(442-444)Tcc>Ccc	p.S148P		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	148					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	p.S148A(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CAAGGCCAGTTCCCCCAGCAG	0.642																																					p.S148P													.	CDX4	52		1	Substitution - Missense(1)	lung(1)	c.T442C												24	23	23					X																	72667531		2148	4207	6355	SO:0001583	missense	1046	exon1			GCCAGTTCCCCCA	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.442T>C	X.37:g.72667531T>C	ENSP00000362613:p.Ser148Pro		21	0.0952380952	2		29	0.17	5	NM_005193	0		0	A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.221663	0.58560	.	.	ENSG00000131264	ENST00000373514	T	0.56444	0.46	2.32	2.32	0.28847	Caudal-like activation domain (1);	0.146256	0.47852	D	0.000213	T	0.69142	0.3078	M	0.82323	2.585	0.42892	D	0.994206	D	0.76494	0.999	D	0.85130	0.997	T	0.69957	-0.5004	10	0.51188	T	0.08	-5.7003	7.8501	0.29448	0.0:0.0:0.0:1.0	.	148	O14627	CDX4_HUMAN	P	148	ENSP00000362613:S148P	ENSP00000362613:S148P	S	+	1	0	CDX4	72584256	1.000000	0.71417	0.958000	0.39756	0.817000	0.46193	3.701000	0.54793	1.182000	0.42928	0.352000	0.21897	TCC			0.642	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057229.2		NM_005193		C	72667531	T	C	72667531	3	2	132	1	0	0	0	0	1	0	0	0	3186	1783	62	4	444	4	CDX4	23	72667531	Missense_Mutation	SNP	T	TCGA-YU-A90S-01A-11D-A435-10	19555531	72667531	82603029	49	9829											
EPB41	2035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	29314195	29314195	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagaggactttcacgactAttctcctcgtttctcaaaag	11	12	7	11	2	3	1	2	0	2	1	6	3	3	2	1	1	1	2	1	1	3	4			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr1:29314195A>G	ENST00000343067.4	+	2	373	c.246A>G	c.(244-246)ctA>ctG	p.L82L	Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000373798.1_Silent_p.L82L|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Silent_p.L82L|EPB41_ENST00000356093.2_Silent_p.L82L|EPB41_ENST00000347529.3_Silent_p.L82L|EPB41_ENST00000373797.1_Silent_p.L82L	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	82					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTTCACGACTATTCTCCTCGT	0.448																																					p.L82L													EPB41_ENST00000343067,NS,carcinoma,+2,1	EPB41_ENST00000343067	2	1	0			c.A246G												144	135	138					1																	29314195		2203	4300	6503	SO:0001819	synonymous_variant	2035	exon2			ACGACTATTCTCC	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.246A>G	1.37:g.29314195A>G			315	0	0		401	0.12	47	NM_203343	63	0.14	9	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	CCDS53288.1																																																																																					0.448	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010312.1		NM_203342		G	29314195	A	G	29314195	2	3	133	1	0	0	0	0	0	0	0	1	5158	436	16	4		4	EPB41	1	29314195	Silent	SNP	A	TCGA-YU-A90W-01A-11D-A435-10		29314195	219936426	1	9830											
TPR	7175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	186283154	186283154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctcccattgcatggctCacacctgtaaaagaaaaaag	14	8	6	13	0	1	1	1	0	0	1	3	1	3	1	3	1	1	3	3	1	5	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr1:186283154C>T	ENST00000367478.4	-	51	7337	c.7041G>A	c.(7039-7041)gtG>gtA	p.V2347V	PRG4_ENST00000367486.3_3'UTR|PRG4_ENST00000367484.3_3'UTR|PRG4_ENST00000445192.2_3'UTR|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367485.4_3'UTR|PRG4_ENST00000367483.4_3'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2347					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGCATGGCTCACACCTGTAA	0.294			T	NTRK1	papillary thyroid																																p.V2347V				Dom	yes		1	1q25	7175	translocated promoter region		E	.	.			0			c.G7041A												96	92	93					1																	186283154		1805	4062	5867	SO:0001819	synonymous_variant	7175	exon51			ATGGCTCACACCT	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.7041G>A	1.37:g.186283154C>T			84	0	0		105	0.14	15	NM_003292	448	0.17	75	Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																					0.294	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086353.2		NM_003292		T	186283154	C	T	186283154	2	4	133	1	0	0	0	0	0	0	0	1	16440	813	29	3		3	TPR	1	186283154	Silent	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	156968959	186283154	62967467	2	9831											
GPR39	2863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	133174783	133174783	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccattcgggtcacccaGgtgctgcagaagaaaggata	12	6	12	11	1	1	2	1	0	0	2	2	3	1	3	3	3	2	2	3	3	3	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr2:133174783G>A	ENST00000329321.3	+	1	637	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	56					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGTCACCCAGGTGCTGCAGA	0.537																																					p.Q56Q													.	.			0			c.G168A												173	154	160					2																	133174783		2203	4300	6503	SO:0001819	synonymous_variant	2863	exon1			CACCCAGGTGCTG	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.168G>A	2.37:g.133174783G>A			154	0	0		186	0.11	21	NM_001508	57	0.12	7	B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	CCDS2170.1																																																																																					0.537	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254582.1				A	133174783	G	A	133174783	2	1	133	1	0	0	0	0	0	0	0	1	6707	991	35	3		3	GPR39	2	133174783	Silent	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		133174783	110024590	3	9832											
BMPR2	659	ucsc.edu	37	chr2	203420129	203420129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcacacctttgactatagggGaaaaaaaccgaaattcaatt	17	9	7	8	1	1	1	1	1	0	0	1	3	1	2	2	2	1	1	2	2	7	5			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr2:203420129G>A	ENST00000374580.4	+	12	2280	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	581					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GACTATAGGGGAAAAAAACCG	0.438																																					p.E581K													.	BMPR2	142		0			c.G1741A												114	107	109					2																	203420129		2203	4300	6503	SO:0001583	missense	659	exon12			ATAGGGGAAAAAA	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1741G>A	2.37:g.203420129G>A	ENSP00000363708:p.Glu581Lys		142	0.0070422535	1		163	0.02	3	NM_001204	55	0.13	7	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532542	0.85812	.	.	ENSG00000204217	ENST00000374580	D	0.84516	-1.86	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90024	0.4130	10	0.72032	D	0.01	.	19.2493	0.93917	0.0:0.0:1.0:0.0	.	581	Q13873	BMPR2_HUMAN	K	581	ENSP00000363708:E581K	ENSP00000363708:E581K	E	+	1	0	BMPR2	203128374	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	9.624000	0.98398	2.542000	0.85734	0.650000	0.86243	GAA			0.438	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257743.1	rescued with RNA-seq	NM_001204		A	203420129	G	A	203420129	3	1	133	1	0	0	0	0	1	0	0	0	1471	1175	41	3	1787	3	BMPR2	2	203420129	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	70245346	203420129	39779244	4	9833											
TTLL4	9654	broad.mit.edu	37	chr2	219612368	219612368	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcaagtttgacctgcgGatctatgtttatgtcacttc	8	14	10	9	1	2	1	1	1	1	0	3	2	2	2	1	2	2	4	1	2	3	5			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr2:219612368G>T	ENST00000392102.1	+	11	2638	c.2298G>T	c.(2296-2298)cgG>cgT	p.R766R	TTLL4_ENST00000442769.1_Silent_p.R702R|TTLL4_ENST00000457313.1_Silent_p.R601R|TTLL4_ENST00000258398.4_Silent_p.R766R	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	766	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)		TTGACCTGCGGATCTATGTTT	0.493																																					p.R766R	GBM(172;1818 2053 15407 20943 49753)												.	TTLL4	96		0			c.G2298T												165	148	153					2																	219612368		2203	4300	6503	SO:0001819	synonymous_variant	9654	exon11			CCTGCGGATCTAT		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.2298G>T	2.37:g.219612368G>T			209	0	0		253	0.02	5	NM_014640	156	0	0	A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243354	0.22796	.	.	ENSG00000135912	ENST00000448224	.	.	.	5.28	1.13	0.20643	.	.	.	.	.	T	0.51584	0.1683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35525	-0.9785	4	.	.	.	.	5.5235	0.16945	0.2991:0.1496:0.5514:0.0	.	.	.	.	V	98	.	.	G	+	2	0	TTLL4	219320612	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	0.552000	0.23376	0.016000	0.14998	0.655000	0.94253	GGA			0.493	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256726.1		NM_014640		T	219612368	G	T	219612368	2	4	133	1	0	0	0	0	0	0	0	1	16753	1161	41	3		3	TTLL4	2	219612368	Silent	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	16192239	219612368	23587005	5	9834											
DCP1A	55802	mdanderson.org	37	chr3	53376192	53376192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcatttctatacagaaGaaatggttcatggagctgaa	13	12	10	6	0	2	3	1	1	1	2	2	4	2	4	0	2	3	4	0	2	5	5			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr3:53376192G>T	ENST00000607628.1	-	3	392	c.283C>A	c.(283-285)Ctt>Att	p.L95I	DCP1A_ENST00000294241.6_Missense_Mutation_p.L95I|DCP1A_ENST00000606822.1_Missense_Mutation_p.L95I|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	95					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTATACAGAAGAAATGGTTCA	0.313																																					p.L95I													DCP1A,NS,carcinoma,0,1	DCP1A	0	1	0			c.C283A												50	48	49					3																	53376192		1807	4065	5872	SO:0001583	missense	55802	exon3			ACAGAAGAAATGG	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.283C>A	3.37:g.53376192G>T	ENSP00000475920:p.Leu95Ile		65	0	0		59	0.05	3	NM_018403	16	0	0	B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37																																																																																						0.313	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_018403		T	53376192	G	T	53376192	3	4	133	1	0	0	0	0	1	0	0	0	4300	942	33	3	1497	3	DCP1A	3	53376192	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		53376192	144646238	6	9835											
PARP14	54625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	122420415	122420415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaaaacatcatgggaaaAaggaagcctggtgtccccgg	13	6	14	8	1	1	0	1	0	0	0	2	3	2	3	3	5	2	0	3	5	5	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr3:122420415A>G	ENST00000474629.2	+	6	3280	c.3014A>G	c.(3013-3015)aAa>aGa	p.K1005R		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1005	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				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)		TCATGGGAAAAAGGAAGCCTG	0.552																																					p.K1005R													.	.			0			c.A3014G												28	28	28					3																	122420415		1910	4138	6048	SO:0001583	missense	54625	exon6			GGGAAAAAGGAAG	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.3014A>G	3.37:g.122420415A>G	ENSP00000418194:p.Lys1005Arg		119	0	0		137	0.17	23	NM_017554	6	0	0	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	5.720	0.317276	0.10845	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.09350	2.99	4.83	0.195	0.15151	Appr-1-p processing (1);	1.417150	0.04454	N	0.373217	T	0.03915	0.0110	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39820	-0.9595	10	0.15499	T	0.54	.	5.1325	0.14917	0.6103:0.14:0.2497:0.0	.	1005;1005	Q460N5-4;Q460N5	.;PAR14_HUMAN	R	1005;924	ENSP00000418194:K1005R	ENSP00000381228:K924R	K	+	2	0	PARP14	123903105	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.001000	0.13038	-0.125000	0.11703	-0.478000	0.04885	AAA			0.552	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356173.2		NM_017554		G	122420415	A	G	122420415	3	3	133	1	0	0	0	0	1	0	0	0	11475	14	1	4	3036	4	PARP14	3	122420415	Missense_Mutation	SNP	A	TCGA-YU-A90W-01A-11D-A435-10	69044223	122420415	75602015	7	9836											
FAM43A	131583	mdanderson.org	37	chr3	194407933	194407933	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcacgccgaggagcgCgcgctgcgccgcccgggcca	5	3	17	16	8	0	0	0	0	0	0	0	2	0	1	4	3	3	2	4	3	0	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr3:194407933C>A	ENST00000329759.4	+	1	1312	c.378C>A	c.(376-378)cgC>cgA	p.R126R		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	126										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CCGAGGAGCGCGCGCTGCGCC	0.697																																					p.R126R													.	.			0			c.C378A												18	18	18					3																	194407933		2184	4270	6454	SO:0001819	synonymous_variant	131583	exon1			GGAGCGCGCGCTG	AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.378C>A	3.37:g.194407933C>A			22	0	0		26	0.08	2	NM_153690	11	0	0	A3KME2|Q8IXP4|Q8WZ07	Silent	SNP	ENST00000329759.4	37	CCDS33923.1																																																																																					0.697	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342734.1		NM_153690		A	194407933	C	A	194407933	2	1	133	1	0	0	0	0	0	0	0	1	5575	755	27	1		1	FAM43A	3	194407933	Silent	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	71987518	194407933	3614497	8	9837											
PITX1	5307	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr5	134364535	134364535	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgccgtagccaaacgaCgagtgctgtttggacttgag	9	8	14	10	4	0	1	0	1	0	0	0	4	0	2	3	2	3	3	3	2	2	3	rs61751190		TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr5:134364535C>G	ENST00000265340.7	-	3	1295	c.879G>C	c.(877-879)tcG>tcC	p.S293S	PITX1_ENST00000506438.1_Silent_p.S293S	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	293					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|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)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		AGCCAAACGACGAGTGCTGTT	0.711																																					p.S293S													.	.			0			c.G879C												30	31	31					5																	134364535		2203	4300	6503	SO:0001819	synonymous_variant	5307	exon3			AAACGACGAGTGC	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"Homeoboxes / PRD class"	9004	protein-coding gene	gene with protein product		602149	"paired-like homeodomain transcription factor 1"	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.879G>C	5.37:g.134364535C>G			72	0	0		62	0.29	18	NM_002653	0		0	A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	ENST00000265340.7	37	CCDS4182.1																																																																																					0.711	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251195.3				G	134364535	C	G	134364535	2	3	133	1	0	0	0	0	0	0	0	1	11971	523	19	5		5	PITX1	5	134364535	Silent	SNP	C	TCGA-YU-A90W-01A-11D-A435-10		134364535	46550725	9	9838											
PPP2R2B	5521	mdanderson.org	37	chr5	146070770	146070770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttctggcctcttatcaCgctcgctgactttccacagc	6	12	7	16	2	3	1	1	1	2	0	5	1	4	1	3	1	2	2	3	1	1	3	rs374783257		TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr5:146070770C>T	ENST00000394413.3	-	4	938	c.368G>A	c.(367-369)cGt>cAt	p.R123H	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R181H|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R189H|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R129H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R123H|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R126H|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R123H			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	123					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTTATCACGCTCGCTGAC	0.507																																					p.R229H													PPP2R2B_ENST00000508545,NS,carcinoma,0,8	PPP2R2B_ENST00000508545	0	8	0			c.G686A							C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97	103	101		368,368,368,368,377,308,335	5.8	1	5		101	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	123/444,123/444,123/444,123/444,126/447,103/424,112/433	146070770	1,13005	2203	4300	6503	SO:0001583	missense	5521	exon5			TTATCACGCTCGC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.368G>A	5.37:g.146070770C>T	ENSP00000377935:p.Arg123His		63	0	0		44	0.07	3	NM_181675	0		0	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567848	0.96540	2.27E-4	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.79805	2.47	0.80722	D	1	D;D;D;P;P;D	0.76494	0.999;0.999;0.999;0.58;0.793;0.999	D;P;P;B;B;P	0.64144	0.922;0.896;0.896;0.174;0.072;0.896	T	0.62248	-0.6894	10	0.87932	D	0	-32.0461	20.1577	0.98120	0.0:1.0:0.0:0.0	.	181;129;112;189;126;123	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	H	123;112;189;123;123;123;112;126;129;181	ENSP00000377935:R123H;ENSP00000431320:R112H;ENSP00000377936:R189H;ENSP00000377933:R123H;ENSP00000349283:R123H;ENSP00000398779:R123H;ENSP00000377932:R112H;ENSP00000336591:R126H;ENSP00000421396:R129H;ENSP00000377931:R181H	ENSP00000336591:R126H	R	-	2	0	AC011357.1	146050963	1.000000	0.71417	0.972000	0.41901	0.984000	0.73092	7.461000	0.80834	2.767000	0.95098	0.655000	0.94253	CGT			0.507	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251893.2		NM_181678		T	146070770	C	T	146070770	3	4	133	1	0	0	0	0	1	0	0	0	12405	536	19	1	987	1	PPP2R2B	5	146070770	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	11706235	146070770	34844490	10	9839											
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	56368856	56368856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaattggagacattgaaGctaatttaccacctgcaata	14	12	6	9	0	0	2	0	1	0	1	1	3	1	2	3	1	3	2	3	1	6	7			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr6:56368856G>A	ENST00000361203.3	-	73	18552	c.18545C>T	c.(18544-18546)gCt>gTt	p.A6182V	DST_ENST00000370769.4_Missense_Mutation_p.A6293V|DST_ENST00000421834.2_Missense_Mutation_p.A4205V|DST_ENST00000370754.5_Missense_Mutation_p.A6471V|DST_ENST00000446842.2_Missense_Mutation_p.A5967V|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.A4096V|DST_ENST00000244364.6_Missense_Mutation_p.A3879V			Q03001	DYST_HUMAN	dystonin	6182					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)			AGACATTGAAGCTAATTTACC	0.423																																					p.A3879V													.	.			0			c.C11636T												113	102	106					6																	56368856		1889	4127	6016	SO:0001583	missense	667	exon59			ATTGAAGCTAATT	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.18545C>T	6.37:g.56368856G>A	ENSP00000354508:p.Ala6182Val		129	0	0		124	0.11	14	NM_015548	72	0.14	10	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		.	.	.	.	.	.	.	.	.	.	G	18.23	3.578339	0.65878	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000087	T	0.49389	0.1554	L	0.42245	1.32	0.32874	D	0.509660	D;D;D;P;P	0.71674	0.965;0.998;0.996;0.611;0.929	P;D;D;B;P	0.73380	0.846;0.98;0.925;0.321;0.572	T	0.40646	-0.9552	9	0.30078	T	0.28	.	14.3048	0.66377	0.0:0.0:0.8515:0.1485	.	4205;6293;6471;6291;3879	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	3879;6471;6293;4205;5967;4096;6182	ENSP00000244364:A3879V;ENSP00000359790:A6471V;ENSP00000359805:A6293V;ENSP00000400883:A4205V;ENSP00000393645:A5967V;ENSP00000359824:A4096V;ENSP00000354508:A6182V	ENSP00000244364:A3879V	A	-	2	0	DST	56476815	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	5.513000	0.67037	2.661000	0.90470	0.650000	0.86243	GCT			0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000041021.3		NM_001723		A	56368856	G	A	56368856	3	1	133	1	0	0	0	0	1	0	0	0	4788	971	34	2	3983	2	DST	6	56368856	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		56368856	114746211	11	9840											
ETV1	2115	broad.mit.edu	37	chr7	13949310	13949310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataaaactgcctggggcccTtttcaaacatacagcctgtg	11	10	8	12	0	1	0	1	0	0	0	1	0	1	0	3	2	5	0	3	2	4	4			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr7:13949310T>C	ENST00000430479.1	-	11	1554	c.887A>G	c.(886-888)aAg>aGg	p.K296R	ETV1_ENST00000403685.1_Missense_Mutation_p.K278R|ETV1_ENST00000399357.3_Missense_Mutation_p.K193R|ETV1_ENST00000405192.2_Missense_Mutation_p.K273R|ETV1_ENST00000343495.5_Missense_Mutation_p.K278R|ETV1_ENST00000420159.2_Missense_Mutation_p.K238R|ETV1_ENST00000405358.4_Missense_Mutation_p.K310R|ETV1_ENST00000242066.5_Missense_Mutation_p.K278R|ETV1_ENST00000405218.2_Missense_Mutation_p.K296R|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000403527.1_Missense_Mutation_p.K256R	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	296					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)	p.K256R(1)|p.K296R(1)	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						CCTGGGGCCCTTTTCAAACAT	0.343			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																p.K296R				Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	ETV1_ENST00000403527,NS,carcinoma,0,2	ETV1	138	2	2	Substitution - Missense(2)	lung(2)	c.A887G												100	99	99					7																	13949310		1806	4074	5880	SO:0001583	missense	2115	exon11			GGGCCCTTTTCAA		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.887A>G	7.37:g.13949310T>C	ENSP00000405327:p.Lys296Arg		129	0	0		151	0.03	4	NM_004956	47	0	0	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.842521	0.71488	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.98	5.98	0.97165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.438355	0.28031	N	0.016867	T	0.45418	0.1341	L	0.46741	1.465	0.58432	D	0.999999	P;B;D;D;D;D;B	0.63046	0.955;0.044;0.979;0.99;0.99;0.992;0.055	P;B;P;D;D;D;B	0.83275	0.675;0.03;0.76;0.979;0.996;0.987;0.075	T	0.16630	-1.0396	10	0.37606	T	0.19	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	284;278;310;238;193;256;296	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	R	296;278;278;238;193;273;310;256;296;278;238	ENSP00000405327:K296R;ENSP00000242066:K278R;ENSP00000340853:K278R;ENSP00000411626:K238R;ENSP00000382293:K193R;ENSP00000385381:K273R;ENSP00000384085:K310R;ENSP00000384138:K256R;ENSP00000385551:K296R;ENSP00000385686:K278R;ENSP00000393078:K238R	ENSP00000242066:K278R	K	-	2	0	ETV1	13915835	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	6.247000	0.72411	2.289000	0.77006	0.482000	0.46254	AAG			0.343	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326111.1		NM_004956		C	13949310	T	C	13949310	3	2	133	1	0	0	0	0	1	0	0	0	5284	1609	56	4	562	4	ETV1	7	13949310	Missense_Mutation	SNP	T	TCGA-YU-A90W-01A-11D-A435-10		13949310	145189353	12	9841											
COBL	23242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	51096836	51096836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccccgtcagcacagcCatacactttgtctttcactt	7	13	4	17	1	4	0	2	0	2	0	5	0	4	0	4	0	3	1	4	0	1	4			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr7:51096836C>A	ENST00000265136.7	-	10	2122	c.1957G>T	c.(1957-1959)Ggc>Tgc	p.G653C	COBL_ENST00000395542.2_Missense_Mutation_p.G735C	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	653					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)					TCAGCACAGCCATACACTTTG	0.473																																					p.G653C	NSCLC(189;2119 2138 12223 30818 34679)												.	.			0			c.G1957T												153	135	141					7																	51096836		2203	4300	6503	SO:0001583	missense	23242	exon10			CACAGCCATACAC	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.1957G>T	7.37:g.51096836C>A	ENSP00000265136:p.Gly653Cys		176	0	0		270	0.32	87	NM_015198	43	0.28	12	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930763	0.52866	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.83	3.06	0.35304	.	0.964777	0.08527	N	0.932559	T	0.45875	0.1364	L	0.43152	1.355	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.912;0.912;0.972;0.991;0.991	T	0.22871	-1.0204	10	0.62326	D	0.03	.	7.9117	0.29796	0.0:0.6928:0.0:0.3072	.	653;710;653;735;195	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	C	653;545;538;735;151	ENSP00000265136:G653C;ENSP00000401204:G545C;ENSP00000413498:G538C;ENSP00000378912:G735C	ENSP00000265136:G653C	G	-	1	0	COBL	51064330	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.008000	0.12788	0.809000	0.34255	0.655000	0.94253	GGC			0.473	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000342682.1		NM_015198		A	51096836	C	A	51096836	3	1	133	1	0	0	0	0	1	0	0	0	3655	594	21	3	1844	3	COBL	7	51096836	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	37147526	51096836	108041827	13	9842											
ZNF277	11179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	111980956	111980956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctatcagcaagtgaaactgGtcaattttattcggaggcaa	13	12	9	7	1	3	1	2	1	1	0	4	2	3	2	0	3	2	2	0	3	6	4			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr7:111980956G>A	ENST00000361822.3	+	11	1168	c.1039G>A	c.(1039-1041)Gtc>Atc	p.V347I	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	347					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGTGAAACTGGTCAATTTTAT	0.343																																					p.V347I													.	.			0			c.G1039A												123	128	126					7																	111980956		2203	4300	6503	SO:0001583	missense	11179	exon11			AAACTGGTCAATT	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.1039G>A	7.37:g.111980956G>A	ENSP00000354501:p.Val347Ile		228	0	0		233	0.23	54	NM_021994	61	0.34	21	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426265	0.62733	.	.	ENSG00000198839	ENST00000361822;ENST00000421864	T;T	0.35973	1.28;1.28	6.03	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	L	0.31752	0.955	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.29366	-1.0014	10	0.17832	T	0.49	-10.7078	15.5079	0.75757	0.0662:0.0:0.9338:0.0	.	347	Q9NRM2	ZN277_HUMAN	I	347;58	ENSP00000354501:V347I;ENSP00000415735:V58I	ENSP00000354501:V347I	V	+	1	0	ZNF277	111768192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.169000	0.77578	1.564000	0.49628	0.555000	0.69702	GTC			0.343	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316843.2		NM_021994		A	111980956	G	A	111980956	3	1	133	1	0	0	0	0	1	0	0	0	17835	1261	44	3	1081	3	ZNF277	7	111980956	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	60884120	111980956	47157707	14	9843											
NOS3	4846	broad.mit.edu;mdanderson.org	37	chr7	150698654	150698654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacccctggaaggggagtgCcgccaagggcaccggcatca	10	3	15	13	2	1	1	1	0	0	1	1	3	1	3	5	5	1	2	5	5	2	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr7:150698654C>T	ENST00000484524.1	+	11	1451	c.1451C>T	c.(1450-1452)gCc>gTc	p.A484V	NOS3_ENST00000467517.1_Missense_Mutation_p.A484V|NOS3_ENST00000461406.1_Missense_Mutation_p.A278V|NOS3_ENST00000297494.3_Missense_Mutation_p.A484V	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					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)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGGGAGTGCCGCCAAGGGC	0.602																																					p.A484V													.	NOS3	131		0			c.C1451T												125	150	142					7																	150698654		2203	4300	6503	SO:0001583	missense	4846	exon11			GGAGTGCCGCCAA		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1451C>T	7.37:g.150698654C>T	ENSP00000420215:p.Ala484Val		86	0	0		121	0.05	6	NM_001160111	4	0	0	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	C	0.362	-0.938608	0.02340	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.19	1.12	0.20585	Nitric oxide synthase, oxygenase domain (2);	1.021070	0.07829	N	0.961036	T	0.06872	0.0175	N	0.00510	-1.415	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.002;0.003;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.005;0.004;0.001;0.004	T	0.29274	-1.0017	10	0.02654	T	1	-9.4019	17.4824	0.87677	0.0:0.3052:0.6947:0.0	.	484;484;484;278;484	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	V	484;278;484;484	ENSP00000297494:A484V;ENSP00000417143:A278V;ENSP00000420215:A484V;ENSP00000420551:A484V	ENSP00000297494:A484V	A	+	2	0	NOS3	150329587	0.000000	0.05858	0.000000	0.03702	0.661000	0.39034	0.071000	0.14594	-0.087000	0.12528	0.655000	0.94253	GCC			0.602	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000351550.1		NM_000603		T	150698654	C	T	150698654	3	4	133	1	0	0	0	0	1	0	0	0	10561	739	26	2	1493	2	NOS3	7	150698654	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	38717698	150698654	8440009	15	9844											
ERICH1	157697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	642586	642586	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcagtgtagagccgtcGggcagtcggggtctcagagc	6	7	18	10	3	1	2	1	0	1	2	4	2	1	2	1	4	2	4	1	4	1	1	rs150434775		TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr8:642586G>A	ENST00000262109.7	-	3	273	c.196C>T	c.(196-198)Cga>Tga	p.R66*	ERICH1_ENST00000522706.1_Intron|ERICH1_ENST00000518277.1_5'UTR	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	66										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TAGAGCCGTCGGGCAGTCGGG	0.567																																					p.R66X													.	.			0			c.C196T							G	stop/ARG	0,4406		0,0,2203	29	31	31		196	-0.4	0	8	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ERICH1	NM_207332.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		66/444	642586	1,13005	2203	4300	6503	SO:0001587	stop_gained	157697	exon3			GCCGTCGGGCAGT		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.196C>T	8.37:g.642586G>A	ENSP00000262109:p.Arg66*		333	0	0		451	0.21	93	NM_207332	44	0.05	2	A8K2J9|Q9P063	Nonsense_Mutation	SNP	ENST00000262109.7	37	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396861	0.62177	0.0	1.16E-4	ENSG00000104714	ENST00000543819;ENST00000262109	.	.	.	4.66	-0.432	0.12291	.	0.069656	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6168	13.6464	0.62283	0.0:0.0:0.7545:0.2455	.	.	.	.	X	66	.	ENSP00000262109:R66X	R	-	1	2	ERICH1	632586	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.124000	0.15728	0.096000	0.17463	-0.256000	0.11100	CGA	0		0.567	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251228.3		NM_207332		A	642586	G	A	642586	4	1	133	1	0	0	0	0	0	1	0	0	5237	1124	39	1	1151	1	ERICH1	8	642586	Nonsense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		642586	145721436	16	9845											
FOXD4	2298	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	116901	116901	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcggccagcgatgtcaGcccagagccctctgccaccg	7	4	14	16	3	2	1	1	0	1	1	2	2	2	1	5	3	4	0	5	3	0	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr9:116901G>C	ENST00000382500.2	-	1	1516	c.1219C>G	c.(1219-1221)Ctg>Gtg	p.L407V		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	407					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGCGATGTCAGCCCAGAGCCC	0.701																																					p.L407V													.	.			0			c.C1219G												27	38	35					9																	116901		2196	4291	6487	SO:0001583	missense	2298	exon1			ATGTCAGCCCAGA	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.1219C>G	9.37:g.116901G>C	ENSP00000371940:p.Leu407Val		180	0	0		181	0.08	14	NM_207305	0		0	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	15.26	2.780303	0.49891	.	.	ENSG00000170122	ENST00000382500	D	0.96334	-3.98	2.41	2.41	0.29592	.	266.961000	0.02578	U	0.098578	D	0.93697	0.7986	N	0.12182	0.205	0.24140	N	0.995739	D	0.53885	0.963	P	0.49853	0.624	D	0.88509	0.3088	10	0.87932	D	0	.	8.3775	0.32451	0.0:0.0:1.0:0.0	.	407	Q12950	FOXD4_HUMAN	V	407	ENSP00000371940:L407V	ENSP00000371940:L407V	L	-	1	2	FOXD4	106901	0.000000	0.05858	0.231000	0.23993	0.085000	0.17905	-0.019000	0.12546	1.347000	0.45714	0.473000	0.43528	CTG			0.701	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055433.1		NM_207305		C	116901	G	C	116901	3	2	133	1	0	0	0	0	1	0	0	0	6012	962	34	5	104	5	FOXD4	9	116901	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		116901	141096530	17	9846											
ABCA2	20	mdanderson.org	37	chr9	139917217	139917217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgagggcctccagatgctGgcgtagggcctcgagctctg	6	8	15	12	2	1	2	0	1	1	1	3	3	2	2	3	3	2	3	3	3	1	1			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr9:139917217G>T	ENST00000371605.3	-	4	520	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.Q126K|ABCA2_ENST00000265662.5_Missense_Mutation_p.Q126K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	125					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)		TCCAGATGCTGGCGTAGGGCC	0.697																																					p.Q156K													.	.			0			c.C466A												14	18	17					9																	139917217		1959	4142	6101	SO:0001583	missense	20	exon5			GATGCTGGCGTAG	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.373C>A	9.37:g.139917217G>T	ENSP00000360666:p.Gln125Lys		29	0	0		36	0.08	3	NM_212533	4	0	0	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	g	13.59	2.281879	0.40394	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.87412	-2.25;-2.25;-2.25	4.25	1.95	0.26073	.	3.201140	0.02312	U	0.072220	T	0.75781	0.3896	N	0.12887	0.27	0.28450	N	0.916369	B;B;B	0.19817	0.022;0.039;0.02	B;B;B	0.17433	0.006;0.01;0.018	T	0.62872	-0.6762	10	0.02654	T	1	.	10.8706	0.46881	0.0:0.1308:0.7162:0.1531	.	125;155;156	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	K	126;125;156;126	ENSP00000265662:Q126K;ENSP00000360666:Q125K;ENSP00000344155:Q126K	ENSP00000265662:Q126K	Q	-	1	0	ABCA2	139037038	0.995000	0.38212	0.991000	0.47740	0.978000	0.69477	4.028000	0.57246	0.719000	0.32188	0.486000	0.48141	CAG			0.697	ABCA2-202	KNOWN	basic	protein_coding	protein_coding				NM_001606		T	139917217	G	T	139917217	3	4	133	1	0	0	0	0	1	0	0	0	32	1357	47	3	7114	3	ABCA2	9	139917217	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	139800316	139917217	1296214	18	9847											
NMT2	9397	broad.mit.edu;mdanderson.org	37	chr10	15210588	15210588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctctgctggctggcCgcagactcgctgtcctccgc	3	9	12	17	3	1	1	0	0	1	1	5	1	4	1	4	3	1	5	4	3	0	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr10:15210588C>T	ENST00000378165.4	-	1	104	c.24G>A	c.(22-24)gcG>gcA	p.A8A	NMT2_ENST00000535341.1_5'Flank|NMT2_ENST00000378150.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	8					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GCTGGCTGGCCGCAGACTCGC	0.731																																					p.A8A	Melanoma(117;1345 1645 4130 12688 30625)												.	NMT2	44		0			c.G24A												59	59	59					10																	15210588		2203	4300	6503	SO:0001819	synonymous_variant	9397	exon1			GCTGGCCGCAGAC	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.24G>A	10.37:g.15210588C>T			31	0	0		49	0.06	3	NM_004808	39	0.28	11	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Silent	SNP	ENST00000378165.4	37	CCDS7109.1																																																																																					0.731	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046958.2		NM_004808		T	15210588	C	T	15210588	2	4	133	1	0	0	0	0	0	0	0	1	10521	639	23	1		1	NMT2	10	15210588	Silent	SNP	C	TCGA-YU-A90W-01A-11D-A435-10		15210588	120324159	19	9848											
FAM190B	54462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	86131820	86131820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactatgacagttgatGgaaataaaaattcacctgct	14	11	9	7	0	1	2	1	2	0	0	1	4	1	4	1	2	1	2	1	2	5	4			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr10:86131820G>A	ENST00000224756.8	+	2	1197	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R	CCSER2_ENST00000372088.2_Missense_Mutation_p.G338R|CCSER2_ENST00000359979.4_Missense_Mutation_p.G338R	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	338					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GACAGTTGATGGAAATAAAAA	0.403																																					p.G338R													.	.			0			c.G1012A												110	110	110					10																	86131820		2203	4299	6502	SO:0001583	missense	54462	exon2			GTTGATGGAAATA		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1012G>A	10.37:g.86131820G>A	ENSP00000224756:p.Gly338Arg		118	0	0		114	0.15	17	NM_018999	40	0.2	8	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921553	0.52653	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.48201	0.82;2.17;2.15	5.73	0.745	0.18359	.	0.705648	0.13435	N	0.388136	T	0.49150	0.1540	L	0.44542	1.39	0.45183	D	0.998196	P;P;P	0.49783	0.773;0.573;0.928	B;B;P	0.53760	0.3;0.219;0.734	T	0.44847	-0.9301	10	0.72032	D	0.01	-1.5013	8.629	0.33908	0.4772:0.0:0.5228:0.0	.	338;338;338	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	R	338	ENSP00000353068:G338R;ENSP00000224756:G338R;ENSP00000361160:G338R	ENSP00000224756:G338R	G	+	1	0	FAM190B	86121800	0.989000	0.36119	0.952000	0.39060	0.991000	0.79684	0.253000	0.18296	-0.110000	0.12022	0.655000	0.94253	GGA			0.403	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049132.2		NM_018999		A	86131820	G	A	86131820	3	1	133	1	0	0	0	0	1	0	0	0	5532	1349	47	3	1014	3	FAM190B	10	86131820	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	70921232	86131820	49402927	20	9849											
C11orf35	256329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	557032	557032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccacggtcttgtgatgcCgctcggaatgctttccagag	7	11	11	12	3	1	2	0	1	1	1	4	3	3	3	3	2	2	2	3	2	1	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr11:557032C>T	ENST00000329451.3	-	8	841	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		260										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		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;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGTGATGCCGCTCGGAATG	0.677																																					p.R260Q													.	.			0			c.G779A												25	27	26					11																	557032		2193	4296	6489	SO:0001583	missense	256329	exon8			TGATGCCGCTCGG																												ENST00000329451.3:c.779G>A	11.37:g.557032C>T	ENSP00000331167:p.Arg260Gln		41	0	0		37	0.16	6	NM_173573	4	0.25	1		Missense_Mutation	SNP	ENST00000329451.3	37	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	C	9.740	1.164626	0.21538	.	.	ENSG00000185522	ENST00000329451;ENST00000441853	T;T	0.29655	1.56;1.56	3.3	-1.23	0.09465	.	3.162860	0.01176	N	0.006963	T	0.14830	0.0358	N	0.03608	-0.345	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.18023	-1.0350	10	0.25751	T	0.34	-0.0295	8.2164	0.31514	0.0:0.5996:0.0:0.4004	.	260	Q8IXW0	CK035_HUMAN	Q	260;267	ENSP00000331167:R260Q;ENSP00000393529:R267Q	ENSP00000331167:R260Q	R	-	2	0	C11orf35	547032	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.973000	0.03798	-0.222000	0.09958	0.485000	0.47835	CGG			0.677	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254973.2				T	557032	C	T	557032	3	4	133	1	0	0	0	0	1	0	0	0	1640	652	23	1	1153	1	C11orf35	11	557032	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10		557032	134449484	21	9850											
FAT3	120114	mdanderson.org	37	chr11	92257930	92257930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattgaagttgaagatgtGaatgacaatgccccgctgac	13	10	10	8	1	0	6	0	5	0	1	0	6	0	6	2	0	2	2	2	0	5	3			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr11:92257930G>T	ENST00000298047.6	+	2	3440	c.3423G>T	c.(3421-3423)gtG>gtT	p.V1141V	FAT3_ENST00000525166.1_Silent_p.V991V|FAT3_ENST00000409404.2_Silent_p.V1141V|FAT3_ENST00000541502.1_Silent_p.V1141V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1141	Cadherin 10. {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)				TTGAAGATGTGAATGACAATG	0.468										TCGA Ovarian(4;0.039)																											p.V1141V													.	.			0			c.G3423T												77	76	76					11																	92257930		2051	4209	6260	SO:0001819	synonymous_variant	120114	exon2			AGATGTGAATGAC	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.3423G>T	11.37:g.92257930G>T			130	0	0		56	0.05	3	NM_001008781	0		0	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																						0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding				NM_001008781		T	92257930	G	T	92257930	2	4	133	1	0	0	0	0	0	0	0	1	5704	1277	45	3		3	FAT3	11	92257930	Silent	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	91700898	92257930	42748586	22	9851											
CWF19L2	143884	broad.mit.edu;mdanderson.org	37	chr11	107309827	107309827	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaatacctttagtaatcGatgacacactacagtcttca	15	12	5	9	1	2	2	1	1	1	1	3	3	2	2	1	0	2	1	1	0	6	7	rs141170726		TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr11:107309827G>T	ENST00000282251.5	-	6	680	c.653C>A	c.(652-654)tCg>tAg	p.S218*	CWF19L2_ENST00000433523.1_Nonsense_Mutation_p.S218*	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	218							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTAGTAATCGATGACACACT	0.393																																					p.S218X													CWF19L2_ENST00000282251,NS,carcinoma,+1,2	CWF19L2	135	2	0			c.C653A												80	69	73					11																	107309827		2201	4298	6499	SO:0001587	stop_gained	143884	exon6			GTAATCGATGACA	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.653C>A	11.37:g.107309827G>T	ENSP00000282251:p.Ser218*		80	0.0125	1		40	0.08	3	NM_152434	6	0	0	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Nonsense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586398	0.66105	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	.	.	.	5.45	5.45	0.79879	.	0.320206	0.30940	N	0.008571	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0759	18.6475	0.91416	0.0:0.0:1.0:0.0	.	.	.	.	X	218	.	ENSP00000282251:S218X	S	-	2	0	CWF19L2	106815037	0.991000	0.36638	0.090000	0.20809	0.056000	0.15407	4.847000	0.62867	2.708000	0.92522	0.650000	0.86243	TCG			0.393	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328825.2		NM_152434		T	107309827	G	T	107309827	4	4	133	1	0	0	0	0	0	1	0	0	4074	1059	37	1	2083	1	CWF19L2	11	107309827	Nonsense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	15051897	107309827	27696689	23	9852											
DSCAML1	57453	mdanderson.org	37	chr11	117651489	117651489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgctgcaaggagtcatttAcaaagtagaggctggtgcca	11	9	12	9	0	1	1	1	0	0	1	1	2	1	2	2	3	4	4	2	3	4	3			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr11:117651489A>G	ENST00000321322.6	-	2	264	c.263T>C	c.(262-264)gTa>gCa	p.V88A	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V28A	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	28	Ig-like C2-type 1.				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)		GGAGTCATTTACAAAGTAGAG	0.607																																					p.V88A													.	.			0			c.T263C												12	12	12					11																	117651489		2184	4255	6439	SO:0001583	missense	57453	exon2			TCATTTACAAAGT		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.263T>C	11.37:g.117651489A>G	ENSP00000315465:p.Val88Ala		16	0	0		8	0.13	1	NM_020693	1	0	0	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627132	0.28978	.	.	ENSG00000177103	ENST00000527706;ENST00000321322	T;T	0.62941	1.55;-0.01	5.1	5.1	0.69264	Immunoglobulin-like (1);	.	.	.	.	T	0.66489	0.2794	L	0.31578	0.945	0.54753	D	0.999982	D	0.69078	0.997	P	0.61397	0.888	T	0.67860	-0.5561	9	0.45353	T	0.12	.	15.2119	0.73230	1.0:0.0:0.0:0.0	.	28	Q8TD84	DSCL1_HUMAN	A	28;88	ENSP00000434335:V28A;ENSP00000315465:V88A	ENSP00000315465:V88A	V	-	2	0	DSCAML1	117156699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.526000	0.81920	2.053000	0.61076	0.460000	0.39030	GTA			0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392907.2		NM_020693		G	117651489	A	G	117651489	3	3	133	1	0	0	0	0	1	0	0	0	4774	391	14	4	6206	4	DSCAML1	11	117651489	Missense_Mutation	SNP	A	TCGA-YU-A90W-01A-11D-A435-10	10341662	117651489	17355027	24	9853											
OR10S1	219873	mdanderson.org	37	chr11	123848041	123848041	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactcagtgctggccagaaAgtggaagcaataaagctgta	14	7	12	8	0	1	1	1	0	0	1	1	2	1	2	1	2	3	5	1	2	6	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr11:123848041A>T	ENST00000531945.1	-	1	447	c.358T>A	c.(358-360)Ttt>Att	p.F120I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	120						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(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		CTGGCCAGAAAGTGGAAGCAA	0.542																																					p.F120I													.	.			0			c.T358A												95	75	82					11																	123848041		2202	4299	6501	SO:0001583	missense	219873	exon1			CCAGAAAGTGGAA	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.358T>A	11.37:g.123848041A>T	ENSP00000431914:p.Phe120Ile		91	0	0		53	0.06	3	NM_001004474	0		0	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599931	0.46318	.	.	ENSG00000196248	ENST00000531945	T	0.00414	7.52	4.74	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.160723	0.28865	U	0.013893	T	0.00328	0.0010	L	0.52364	1.645	0.26821	N	0.968786	B	0.27229	0.172	B	0.18871	0.023	T	0.42816	-0.9429	10	0.59425	D	0.04	-16.6231	8.4066	0.32619	0.761:0.0:0.239:0.0	.	120	Q8NGN2	O10S1_HUMAN	I	120	ENSP00000431914:F120I	ENSP00000431914:F120I	F	-	1	0	OR10S1	123353251	0.000000	0.05858	0.999000	0.59377	0.963000	0.63663	-0.623000	0.05546	0.340000	0.23745	0.467000	0.42956	TTT			0.542	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387265.2		NM_001004474		T	123848041	A	T	123848041	3	4	133	1	0	0	0	0	1	0	0	0	10935	72	3	5	641	5	OR10S1	11	123848041	Missense_Mutation	SNP	A	TCGA-YU-A90W-01A-11D-A435-10	6196552	123848041	11158475	25	9854											
FKBP4	2288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	2908333	2908333	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggcgagggggagaacctGgatctgccttatggtctgga	8	10	16	7	1	2	1	0	0	2	1	2	5	2	3	2	6	2	0	2	6	2	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr12:2908333G>C	ENST00000001008.4	+	5	781	c.594G>C	c.(592-594)ctG>ctC	p.L198L	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	198	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			GGGAGAACCTGGATCTGCCTT	0.557																																					p.L198L													.	.			0			c.G594C												96	89	92					12																	2908333		2203	4300	6503	SO:0001819	synonymous_variant	2288	exon5			GAACCTGGATCTG	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.594G>C	12.37:g.2908333G>C			52	0	0		109	0.17	19	NM_002014	2602	0.18	473	D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	37	CCDS8512.1																																																																																					0.557	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206861.1				C	2908333	G	C	2908333	2	2	133	1	0	0	0	0	0	0	0	1	5923	1335	47	5		5	FKBP4	12	2908333	Silent	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		2908333	130943562	26	9855											
NCOR2	9612	mdanderson.org	37	chr12	124887102	124887102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgttgttgCtgctgctgtcagaccccggg	2	13	14	12	1	1	1	1	0	0	1	1	1	1	1	2	1	7	9	2	1	0	2	rs7488825		TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr12:124887102C>T	ENST00000405201.1	-	14	1488	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	NCOR2_ENST00000404621.1_Silent_p.Q495Q|NCOR2_ENST00000429285.2_Silent_p.Q495Q|NCOR2_ENST00000356219.3_Silent_p.Q496Q|NCOR2_ENST00000404121.2_Silent_p.Q66Q|NCOR2_ENST00000397355.1_Silent_p.Q496Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	496	Poly-Gln.				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)		gctgttgttgctgctgctgTC	0.627																																					p.Q496Q													.	.			0			c.G1488A												9	10	9					12																	124887102		2049	4171	6220	SO:0001819	synonymous_variant	9612	exon16			TTGTTGCTGCTGC	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.1488G>A	12.37:g.124887102C>T			55	0	0		56	0.09	5	NM_006312	26	0	0	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																					0.627	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312		T	124887102	C	T	124887102	2	4	133	1	0	0	0	0	0	0	0	1	10253	796	28	2		2	NCOR2	12	124887102	Silent	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	121978769	124887102	8964793	27	9856											
USP12	219333	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	27664080	27664081	+	Frame_Shift_Del	DEL	AG	AG	-																															aatacttgtattcactgcacAgagtttctgtgttgctgaaa																										TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr13:27664080_27664081delAG	ENST00000282344.6	-	6	929_930	c.673_674delCT	c.(673-675)ctgfs	p.L225fs		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	225	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTCACTGCACAGAGTTTCTGTG	0.322																																					p.225_225del	Ovarian(37;808 911 7590 44442 44991)												.	USP12	35		0			c.674_675del																																									SO:0001589	frameshift_variant	219333	exon6			CTGCACAGAGTTT	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.673_674delCT	13.37:g.27664082_27664083delAG	ENSP00000282344:p.Leu225fs		263	0	0		225	0.18	40	NM_182488	34	0	0	A8K0X0|Q5VZV3|Q8TC49	Frame_Shift_Del	DEL	ENST00000282344.6	37	CCDS31952.1																																																																																					0.322	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044264.1		NM_182488		-	27664081	AG	-	27664080	7	5	133	1	0	1	0	1	0	0	0	0	17067	188	7	0	454	0	USP12	13	27664080	Frame_Shift_Del	DEL	AG	TCGA-YU-A90W-01A-11D-A435-10		27664080	87505798	28	9857											
LTB4R2	56413	mdanderson.org	37	chr14	24780613	24780613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtcaaccttctgcaggCggtcgcagcgctggctccac	6	7	12	16	4	2	0	1	0	1	0	4	0	3	0	2	3	3	5	2	3	1	1			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr14:24780613C>T	ENST00000528054.1	+	1	2453	c.836C>T	c.(835-837)gCg>gTg	p.A279V	CIDEB_ENST00000555817.1_5'UTR|LTB4R_ENST00000345363.3_5'Flank|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000336557.5_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A248V|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000533293.1_Missense_Mutation_p.A248V			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	279					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTTCTGCAGGCGGTCGCAGCG	0.716																																					p.A248V													.	.			0			c.C743T												18	22	21					14																	24780613		2195	4280	6475	SO:0001583	missense	56413	exon2			TGCAGGCGGTCGC	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.836C>T	14.37:g.24780613C>T	ENSP00000432146:p.Ala279Val		18	0	0		23	0.09	2	NM_019839	13	0	0	Q5KU28|Q9NPE5	Missense_Mutation	SNP	ENST00000528054.1	37		.	.	.	.	.	.	.	.	.	.	C	2.533	-0.308068	0.05458	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	4.5	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.172727	0.26991	U	0.021467	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	0.999999	B	0.13145	0.007	B	0.11329	0.006	T	0.34079	-0.9843	10	0.02654	T	1	.	6.9923	0.24761	0.0:0.5895:0.0:0.4105	.	279	Q9NPC1	LT4R2_HUMAN	V	279;248;248;248	ENSP00000432146:A279V;ENSP00000433290:A248V;ENSP00000445772:A248V;ENSP00000434760:A248V	ENSP00000337731:A279V	A	+	2	0	LTB4R2	23850453	0.002000	0.14202	0.125000	0.21846	0.168000	0.22595	-0.243000	0.08915	0.004000	0.14682	0.491000	0.48974	GCG			0.716	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding		OTTHUMT00000073194.4				T	24780613	C	T	24780613	3	4	133	1	0	0	0	0	1	0	0	0	9088	768	27	1	745	1	LTB4R2	14	24780613	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10		24780613	82568927	29	9858											
BCL11B	64919	mdanderson.org	37	chr14	99641140	99641140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgctgttgagcccggggCtgggcagcggcgcgggcttg	2	6	21	12	6	0	1	0	1	0	0	0	1	0	1	1	6	2	5	1	6	0	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr14:99641140C>T	ENST00000357195.3	-	4	2042	c.2033G>A	c.(2032-2034)aGc>aAc	p.S678N	BCL11B_ENST00000443726.2_Missense_Mutation_p.S484N|BCL11B_ENST00000345514.2_Missense_Mutation_p.S607N	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	678					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GAGCCCGGGGCTGGGCAGCGG	0.761			T	TLX3	T-ALL																																p.S678N				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	.			0			c.G2033A												11	11	11					14																	99641140		2115	4113	6228	SO:0001583	missense	64919	exon4			CCGGGGCTGGGCA	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2033G>A	14.37:g.99641140C>T	ENSP00000349723:p.Ser678Asn		25	0	0		20	0.1	2	NM_138576	1	0	0	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474695	0.43942	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.13089	2.69;2.65;2.62	3.95	3.05	0.35203	.	0.235594	0.30244	N	0.010064	T	0.22627	0.0546	L	0.44542	1.39	0.39947	D	0.974481	D;D	0.58620	0.98;0.983	P;P	0.60609	0.758;0.877	T	0.02047	-1.1223	10	0.23891	T	0.37	-14.8228	12.0783	0.53657	0.0:0.9129:0.0:0.0871	.	607;678	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	N	678;607;484	ENSP00000349723:S678N;ENSP00000280435:S607N;ENSP00000387419:S484N	ENSP00000280435:S607N	S	-	2	0	BCL11B	98710893	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.369000	0.52365	0.757000	0.33036	0.561000	0.74099	AGC			0.761	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000072332.2		NM_138576		T	99641140	C	T	99641140	3	4	133	1	0	0	0	0	1	0	0	0	1364	797	28	2	655	2	BCL11B	14	99641140	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	74860527	99641140	7708400	30	9859											
ATP2A1	487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	28914470	28914470	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgttgaccccctgccggTgaggtttcttccgcccaggg	4	11	12	14	2	1	2	0	2	1	0	2	2	2	2	5	3	1	2	5	3	1	4			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr16:28914470T>A	ENST00000357084.3	+	20	3129		c.e20+2		ATP2A1_ENST00000395503.4_Splice_Site|ATP2A1_ENST00000536376.1_Splice_Site	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1						apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCCTGCCGGTGAGGTTTCTT	0.677																																					.													.	.			0			c.2862+2T>A												73	70	71					16																	28914470		2197	4300	6497	SO:0001630	splice_region_variant	487	exon20			TGCCGGTGAGGTT		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2862+2T>A	16.37:g.28914470T>A			46	0	0		51	0.25	13	NM_173201	5	1	5	A8K5J9|B3KY17|O14984	Splice_Site	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265674	0.59431	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.794	0.63160	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP2A1	28821971	1.000000	0.71417	0.978000	0.43139	0.585000	0.36419	8.016000	0.88706	2.096000	0.63516	0.459000	0.35465	.			0.677	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000254686.2		NM_004320	Intron	A	28914470	T	A	28914470	5	1	133	1	0	0	0	0	0	0	1	0	1136	1710	59	5	2942	5	ATP2A1	16	28914470	Splice_Site	SNP	T	TCGA-YU-A90W-01A-11D-A435-10		28914470	61440283	31	9860											
ZNF668	79759	mdanderson.org	37	chr16	31075770	31075770	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccgggcctctgcagccTccacttccatggccttggtg	4	9	13	15	1	1	0	0	0	1	0	3	1	3	1	6	4	2	1	6	4	0	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr16:31075770T>C	ENST00000538906.1	-	2	795	c.11A>G	c.(10-12)gAg>gGg	p.E4G	ZNF668_ENST00000426488.2_Missense_Mutation_p.E27G|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.E4G|ZNF668_ENST00000535577.1_Missense_Mutation_p.E4G|ZNF668_ENST00000539836.3_Missense_Mutation_p.E27G|ZNF668_ENST00000394983.2_Missense_Mutation_p.E4G|AC135050.5_ENST00000568708.1_RNA	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	4					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						CTCTGCAGCCTCCACTTCCAT	0.597																																					p.E27G	Colon(181;1111 1980 5060 10512 25785)												.	.			0			c.A80G												25	31	29					16																	31075770		2161	4263	6424	SO:0001583	missense	79759	exon3			GCAGCCTCCACTT		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.11A>G	16.37:g.31075770T>C	ENSP00000440149:p.Glu4Gly		32	0	0		25	0.08	2	NM_001172669	29	0	0	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616676	0.46736	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000414399;ENST00000442862;ENST00000417935;ENST00000426488	T;T;T;T;T;T;T;T	0.58797	3.05;3.05;3.05;3.05;3.05;0.31;3.03;0.42	5.04	3.93	0.45458	.	0.436137	0.22622	N	0.057681	T	0.40272	0.1110	N	0.19112	0.55	0.32510	N	0.537703	B	0.26935	0.164	B	0.17433	0.018	T	0.50874	-0.8776	10	0.72032	D	0.01	-29.2139	10.2265	0.43229	0.0:0.0:0.3201:0.6799	.	4	Q96K58	ZN668_HUMAN	G	27;4;4;4;4;4;4;4;4	ENSP00000442573:E27G;ENSP00000441349:E4G;ENSP00000440149:E4G;ENSP00000378434:E4G;ENSP00000300849:E4G;ENSP00000412340:E4G;ENSP00000416853:E4G;ENSP00000390671:E4G	ENSP00000300849:E4G	E	-	2	0	ZNF668	30983271	0.441000	0.25626	0.996000	0.52242	0.964000	0.63967	1.927000	0.40094	0.915000	0.36847	0.459000	0.35465	GAG			0.597	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000108516.2		NM_024706		C	31075770	T	C	31075770	3	2	133	1	0	0	0	0	1	0	0	0	18098	1551	54	4	1856	4	ZNF668	16	31075770	Missense_Mutation	SNP	T	TCGA-YU-A90W-01A-11D-A435-10	2161300	31075770	59278983	32	9861											
LDHD	197257	mdanderson.org	37	chr16	75148547	75148547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtccccgacgccccggtgGccgccatgccacagagagag	7	4	14	16	4	0	2	0	0	0	2	1	4	1	2	7	3	1	0	7	3	0	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr16:75148547G>A	ENST00000450168.2	-	5	556	c.506C>T	c.(505-507)gCc>gTc	p.A169V	LDHD_ENST00000300051.4_Missense_Mutation_p.A169V	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CGCCCCGGTGGCCGCCATGCC	0.716																																					p.A169V													.	.			0			c.C506T												10	12	11					16																	75148547		2077	4055	6132	SO:0001583	missense	197257	exon5			CCGGTGGCCGCCA	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.506C>T	16.37:g.75148547G>A	ENSP00000417011:p.Ala169Val		12	0	0		23	0.09	2	NM_194436	3	0	0		Missense_Mutation	SNP	ENST00000450168.2	37	CCDS45529.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126900	0.94429	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	T;T	0.51817	0.69;0.69	5.38	4.37	0.52481	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.111999	0.64402	D	0.000013	T	0.80281	0.4594	H	0.98351	4.21	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.87929	0.2709	10	0.87932	D	0	-31.5389	15.1995	0.73122	0.0:0.1414:0.8586:0.0	.	169;169	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	V	169	ENSP00000417011:A169V;ENSP00000300051:A169V	ENSP00000300051:A169V	A	-	2	0	LDHD	73706048	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	8.338000	0.90038	2.510000	0.84645	0.462000	0.41574	GCC			0.716	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434651.1		NM_153486		A	75148547	G	A	75148547	3	1	133	1	0	0	0	0	1	0	0	0	8718	1203	42	2	1045	2	LDHD	16	75148547	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	44072777	75148547	15206206	33	9862											
PRDM7	11105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	90124710	90124710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttattcaagagtttggaCctttctttgatctcttgacc	7	19	6	9	0	3	3	1	2	2	1	4	4	3	4	2	1	0	1	2	1	2	7			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr16:90124710C>G	ENST00000449207.2	-	10	1485	c.1466G>C	c.(1465-1467)gGt>gCt	p.G489A	PRDM7_ENST00000407825.1_3'UTR|PRDM7_ENST00000325921.6_3'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	489					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)	p.G489A(1)		lung(2)|ovary(2)|stomach(1)	5		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;0.0278)		AGAGTTTGGACCTTTCTTTGA	0.473																																					p.G489A													PRDM7_ENST00000449207,NS,carcinoma,0,1	PRDM7_ENST00000449207	0	1	1	Substitution - Missense(1)	breast(1)	c.G1466C												49	52	51					16																	90124710		2198	4300	6498	SO:0001583	missense	11105	exon10			TTTGGACCTTTCT	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1466G>C	16.37:g.90124710C>G	ENSP00000396732:p.Gly489Ala		96	0	0		97	0.33	32	NM_001098173	2	1	2	A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817671	0.16607	.	.	ENSG00000126856	ENST00000449207	T	0.15603	2.41	2.72	-0.823	0.10815	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.18873	N	0.999988	B	0.29378	0.243	B	0.26094	0.066	T	0.38457	-0.9660	8	.	.	.	-2.6514	2.8206	0.05470	0.2175:0.5022:0.0:0.2803	.	489	Q9NQW5	PRDM7_HUMAN	A	489	ENSP00000396732:G489A	.	G	-	2	0	PRDM7	88652211	0.000000	0.05858	0.002000	0.10522	0.070000	0.16714	-0.879000	0.04188	-0.288000	0.09051	-0.339000	0.08088	GGT			0.473	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000420560.1				G	90124710	C	G	90124710	3	3	133	1	0	0	0	0	1	0	0	0	12481	507	18	5	16	5	PRDM7	16	90124710	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	14976163	90124710	230043	34	9863											
RABEP1	9135	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	5212059	5212059	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgtgcacaacagcagctTgaacaagaatttaatcaaaa	18	9	6	8	1	1	2	1	1	0	1	1	2	1	2	0	0	6	3	0	0	8	4			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:5212059T>C	ENST00000546142.2	+	2	292	c.105T>C	c.(103-105)ctT>ctC	p.L35L	RABEP1_ENST00000341923.6_Silent_p.L35L|RABEP1_ENST00000537505.1_Intron|RABEP1_ENST00000408982.2_Silent_p.L35L|RABEP1_ENST00000262477.6_Silent_p.L35L			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	35					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						AACAGCAGCTTGAACAAGAAT	0.363																																					p.L35L													.	.			0			c.T105C												57	54	55					17																	5212059		1813	4073	5886	SO:0001819	synonymous_variant	9135	exon2			GCAGCTTGAACAA	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.105T>C	17.37:g.5212059T>C			430	0	0		382	0.15	56	NM_004703	45	0.27	12	B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	CCDS45592.1																																																																																					0.363	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439349.1		NM_004703		C	5212059	T	C	5212059	2	2	133	1	0	0	0	0	0	0	0	1	12984	1799	63	4		4	RABEP1	17	5212059	Silent	SNP	T	TCGA-YU-A90W-01A-11D-A435-10		5212059	75983151	35	9864											
GPS2	2874	mdanderson.org	37	chr17	7217005	7217005	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatgctctggtgtcccTgcaaaagcagctgctgagcc	7	10	11	13	0	1	1	0	1	1	0	3	1	3	1	3	1	6	5	3	1	2	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:7217005T>A	ENST00000380728.2	-	7	816	c.516A>T	c.(514-516)gcA>gcT	p.A172A	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Silent_p.A172A|GPS2_ENST00000391950.3_Silent_p.A172A			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	172					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CTGGTGTCCCTGCAAAAGCAG	0.552											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A172A													.	.			0			c.A516T												84	80	82					17																	7217005		2203	4300	6503	SO:0001819	synonymous_variant	2874	exon7			TGTCCCTGCAAAA	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.516A>T	17.37:g.7217005T>A			89	0	0	640	51	0.08	4	NM_004489	208	0	0	B4DXA1|Q6FHM8	Silent	SNP	ENST00000380728.2	37	CCDS11100.1																																																																																					0.552	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000220048.4		NM_004489		A	7217005	T	A	7217005	2	1	133	1	0	0	0	0	0	0	0	1	6748	1567	55	5		5	GPS2	17	7217005	Silent	SNP	T	TCGA-YU-A90W-01A-11D-A435-10	2004946	7217005	73978205	36	9865											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		257	0.046692607	12		207	0.05	11	NM_145301	43	0.35	15	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	133	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	8240082	15457087	65738123	37	9866											
SPAG5	10615	mdanderson.org	37	chr17	26912638	26912638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgatgcgctggctggCgtgtgcacagaaagcctcca	7	8	14	12	2	0	2	0	1	0	1	1	2	1	2	2	3	3	4	2	3	1	0	rs146987463		TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:26912638C>T	ENST00000321765.5	-	8	2106	c.1774G>A	c.(1774-1776)Gcc>Acc	p.A592T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	592	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CGCTGGCTGGCGTGTGCACAG	0.542																																					p.A592T													.	.			0			c.G1774A							C	THR/ALA	0,4406		0,0,2203	132	127	129		1774	1.3	0.7	17	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPAG5	NM_006461.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	592/1194	26912638	1,13005	2203	4300	6503	SO:0001583	missense	10615	exon8			GGCTGGCGTGTGC	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1774G>A	17.37:g.26912638C>T	ENSP00000323300:p.Ala592Thr		58	0	0		52	0.06	3	NM_006461	137	0	0	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.516991	0.44763	0.0	1.16E-4	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.03	1.32	0.21799	.	0.548518	0.17847	N	0.160005	T	0.20333	0.0489	L	0.32530	0.975	0.22684	N	0.99885	D	0.55605	0.972	P	0.45099	0.469	T	0.14924	-1.0455	9	0.13470	T	0.59	-2.3061	6.8802	0.24168	0.5829:0.3282:0.0:0.0889	.	592	Q96R06	SPAG5_HUMAN	T	592;89	.	ENSP00000323300:A592T	A	-	1	0	SPAG5	23936765	0.253000	0.23982	0.679000	0.29978	0.995000	0.86356	0.373000	0.20484	0.360000	0.24265	0.655000	0.94253	GCC	0		0.542	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390564.2		NM_006461		T	26912638	C	T	26912638	3	4	133	1	0	0	0	0	1	0	0	0	15004	768	27	1	1875	1	SPAG5	17	26912638	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	11455551	26912638	54282572	38	9867											
TBC1D29	26083	hgsc.bcm.edu	37	chr17	28890347	28890347	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccaagggtgccaggacaAcaagccttgagccggggaga	11	4	14	12	1	0	2	0	1	0	1	1	4	1	3	5	4	4	0	5	4	3	1			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:28890347A>G	ENST00000580161.1	+	6	2854	c.357A>G	c.(355-357)caA>caG	p.Q119Q	TBC1D29_ENST00000579181.1_Silent_p.Q119Q|TBC1D29_ENST00000584297.1_3'UTR|RP11-218M11.1_ENST00000563063.1_lincRNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	119							Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				TGCCAGGACAACAAGCCTTGA	0.552																																					p.Q119Q													.	.			0			c.A357G												71	63	66					17																	28890347		2203	4300	6503	SO:0001819	synonymous_variant	26083	exon5			AGGACAACAAGCC	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.357A>G	17.37:g.28890347A>G			156	0	0		95	0.04	4	NM_015594	5	0	0		Silent	SNP	ENST00000580161.1	37	CCDS32606.1																																																																																					0.552	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000443632.1		NM_015594		G	28890347	A	G	28890347	2	3	133	1	0	0	0	0	0	0	0	1	15641	40	2	4		4	TBC1D29	17	28890347	Silent	SNP	A	TCGA-YU-A90W-01A-11D-A435-10	1977709	28890347	52304863	39	9868											
CDK12	51755	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	37627847	37627850	+	Frame_Shift_Del	DEL	ACTC	ACTC	-																															cttcaactttgcccccttctActcactcaaagacatctgct																										TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	ACTC	ACTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:37627847_37627850delACTC	ENST00000447079.4	+	2	1795_1798	c.1762_1765delACTC	c.(1762-1767)actcacfs	p.TH588fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.TH588fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	588					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						GCCCCCTTCTACTCACTCAAAGAC	0.5			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																											p.587_588del				Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	.	CDK12	161		0			c.1761_1764del																																									SO:0001589	frameshift_variant	51755	exon2			CCTTCTACTCACT	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.1762_1765delACTC	17.37:g.37627851_37627854delACTC	ENSP00000398880:p.Thr588fs		242	0	0		273	0.31	85	NM_016507	44	0	0	A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	CCDS11337.1																																																																																					0.5	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256941.4		NM_016507		-	37627850	ACTC	-	37627847	7	5	133	1	0	1	0	1	0	0	0	0	3130	391	14	0	1768	0	CDK12	17	37627847	Frame_Shift_Del	DEL	ACTC	TCGA-YU-A90W-01A-11D-A435-10	8737500	37627847	43567363	40	9869											
KRT19	3880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	39680453	39680453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagggtgcgccgcaggtcaGtaacctcggacctgctcatc	8	7	13	13	3	2	0	2	0	0	0	4	2	2	1	3	3	3	3	3	3	2	1			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:39680453G>A	ENST00000361566.3	-	5	950	c.890C>T	c.(889-891)aCt>aTt	p.T297I	KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	297	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCGCAGGTCAGTAACCTCGGA	0.577																																					p.T297I													.	.			0			c.C890T												50	52	52					17																	39680453		2203	4300	6503	SO:0001583	missense	3880	exon5			AGGTCAGTAACCT		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.890C>T	17.37:g.39680453G>A	ENSP00000355124:p.Thr297Ile		140	0	0		113	0.27	30	NM_002276	9	0.44	4	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855080	0.17106	.	.	ENSG00000171345	ENST00000361566	T	0.78364	-1.17	5.26	4.29	0.51040	Prefoldin (1);Filament (1);	0.000000	0.48286	D	0.000182	D	0.84234	0.5427	M	0.71871	2.18	0.47698	D	0.999497	D;D	0.64830	0.994;0.993	D;D	0.68943	0.912;0.961	T	0.81955	-0.0696	10	0.06236	T	0.91	.	15.9924	0.80217	0.0:0.1349:0.8651:0.0	.	460;297	B4DE59;P08727	.;K1C19_HUMAN	I	297	ENSP00000355124:T297I	ENSP00000355124:T297I	T	-	2	0	KRT19	36933979	0.998000	0.40836	0.819000	0.32651	0.167000	0.22549	2.649000	0.46656	1.212000	0.43366	-0.257000	0.10917	ACT			0.577	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257285.1		NM_002276		A	39680453	G	A	39680453	3	1	133	1	0	0	0	0	1	0	0	0	8471	1029	36	3	320	3	KRT19	17	39680453	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	2052606	39680453	41514757	41	9870											
KRT9	3857	broad.mit.edu	37	chr17	39728194	39728194	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggccgcccccgccAcccccgccgctgcggctcaa	4	3	10	24	5	1	0	1	0	0	0	1	0	1	0	8	2	2	2	8	2	1	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:39728194A>C	ENST00000246662.4	-	1	116	c.51T>G	c.(49-51)ggT>ggG	p.G17G	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	17	Head.|Poly-Gly.				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)				CGCCCCCGCCACCCCCGCCGC	0.642																																					p.G17G													.	KRT9	78		0			c.T51G																																									SO:0001819	synonymous_variant	3857	exon1			CCCGCCACCCCCG		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.51T>G	17.37:g.39728194A>C			40	0.325	13		42	0.4	17	NM_000226	0		0	O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	CCDS32654.1																																																																																					0.642	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257707.1		NM_000226		C	39728194	A	C	39728194	2	2	133	1	0	0	0	0	0	0	0	1	8516	146	6	4		4	KRT9	17	39728194	Silent	SNP	A	TCGA-YU-A90W-01A-11D-A435-10	47741	39728194	41467016	42	9871											
NAGLU	4669	mdanderson.org	37	chr17	40696174	40696174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagcagaggtaccccaGccagccgcgaggagacactg	12	2	13	14	2	0	2	0	0	0	2	0	4	0	2	4	2	5	3	4	2	2	1			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:40696174G>T	ENST00000225927.2	+	6	2251	c.2150G>T	c.(2149-2151)aGc>aTc	p.S717I	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	717					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	AGGTACCCCAGCCAGCCGCGA	0.567																																					p.S717I													.	.			0			c.G2150T												41	40	40					17																	40696174		2203	4300	6503	SO:0001583	missense	4669	exon6			ACCCCAGCCAGCC		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.2150G>T	17.37:g.40696174G>T	ENSP00000225927:p.Ser717Ile		38	0	0		49	0.06	3	NM_000263	73	0	0		Missense_Mutation	SNP	ENST00000225927.2	37	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	7.128	0.579337	0.13686	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98633	-5.04	5.07	-5.06	0.02946	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.382986	0.31279	N	0.007937	D	0.93890	0.8045	L	0.36672	1.1	0.19775	N	0.99996	B	0.10296	0.003	B	0.12837	0.008	D	0.87173	0.2222	10	0.20046	T	0.44	-8.1757	4.5236	0.11971	0.0725:0.3666:0.2863:0.2747	.	717	P54802	ANAG_HUMAN	I	717;393	ENSP00000225927:S717I	ENSP00000225927:S717I	S	+	2	0	NAGLU	37949700	0.002000	0.14202	0.057000	0.19452	0.642000	0.38348	0.921000	0.28718	-0.308000	0.08792	0.561000	0.74099	AGC			0.567	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450385.1		NM_000263		T	40696174	G	T	40696174	3	4	133	1	0	0	0	0	1	0	0	0	10159	971	34	2	2172	2	NAGLU	17	40696174	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	967980	40696174	40499036	43	9872											
ERN1	2081	mdanderson.org	37	chr17	62144207	62144207	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccaccacaggggaggcGtagttttggatccacaggac	11	6	14	10	1	0	0	0	0	0	0	1	3	1	3	3	6	0	2	3	6	2	3			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:62144207G>T	ENST00000433197.3	-	8	761	c.666C>A	c.(664-666)taC>taA	p.Y222*	ERN1_ENST00000577567.1_5'Flank	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CAGGGGAGGCGTAGTTTTGGA	0.537																																					p.Y222X													.	.			0			c.C666A												70	74	73					17																	62144207		2145	4249	6394	SO:0001587	stop_gained	2081	exon8			GGAGGCGTAGTTT	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.666C>A	17.37:g.62144207G>T	ENSP00000401445:p.Tyr222*		122	0	0		132	0.04	5	NM_001433	4	0	0		Nonsense_Mutation	SNP	ENST00000433197.3	37	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	36	5.771728	0.96922	.	.	ENSG00000178607	ENST00000433197	.	.	.	5.57	-7.2	0.01495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-14.7589	18.8112	0.92058	0.4028:0.0:0.5972:0.0	.	.	.	.	X	222	.	ENSP00000401445:Y222X	Y	-	3	2	ERN1	59497939	0.920000	0.31207	0.747000	0.31113	0.992000	0.81027	0.044000	0.13992	-1.602000	0.01599	-0.258000	0.10820	TAC			0.537	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443734.2		NM_001433		T	62144207	G	T	62144207	4	4	133	1	0	0	0	0	0	1	0	0	5244	1140	40	1	2327	1	ERN1	17	62144207	Nonsense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	21448033	62144207	19051003	44	9873											
SLC26A11	6448	mdanderson.org	37	chr17	78195433	78195433	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgagcgcctgctgctGctcccctgcggccctgcaga	3	6	13	19	3	0	1	0	0	0	1	1	2	1	1	6	2	6	4	6	2	0	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr17:78195433G>T	ENST00000326317.6	-	0	0				SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000546047.2_Missense_Mutation_p.C25F|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000572725.1_Missense_Mutation_p.C25F|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000361193.3_Missense_Mutation_p.C25F|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000411502.3_Missense_Mutation_p.C25F	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCTGCTGCTGCTCCCCTGCG	0.692																																					p.C25F													.	.			0			c.G74T												19	20	20					17																	78195433		2200	4297	6497	SO:0001631	upstream_gene_variant	284129	exon3			GCTGCTGCTCCCC	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78195433G>T	Exception_encountered		24	0	0		29	0.14	4	NM_173626	37	0	0	A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	g	11.08	1.532943	0.27387	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.94232	-3.38;-3.38;-3.38	4.1	3.09	0.35607	.	0.096340	0.64402	D	0.000001	D	0.82508	0.5052	N	0.08118	0	0.54753	D	0.999981	B	0.12013	0.005	B	0.06405	0.002	T	0.77281	-0.2646	10	0.37606	T	0.19	-18.7518	7.1297	0.25493	0.0916:0.0:0.7412:0.1672	.	25	Q86WA9	S2611_HUMAN	F	25	ENSP00000403998:C25F;ENSP00000440724:C25F;ENSP00000355384:C25F	ENSP00000355384:C25F	C	+	2	0	SLC26A11	75810028	1.000000	0.71417	0.997000	0.53966	0.077000	0.17291	3.315000	0.51951	2.104000	0.64026	0.486000	0.48141	TGC			0.692	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437695.1		NM_000199		T	78195433	G	T	78195433	1	4	133	0	1	0	0	0	0	0	0	0	14539	1319	46	2		2	SLC26A11	17	78195433	5'Flank	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	16051226	78195433	2999777	45	9874											
TXNDC2	84203	mdanderson.org	37	chr18	9887407	9887407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaagccatccagcccaagGagggtgacatccccaagtcc	12	4	11	14	0	0	1	0	1	0	0	3	3	3	3	6	3	2	0	6	3	3	0	rs148775952		TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr18:9887407G>A	ENST00000306084.6	+	2	1130	c.931G>A	c.(931-933)Gag>Aag	p.E311K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Missense_Mutation_p.E244K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	311	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAGCCCAAGGAGGGTGACAT	0.597																																					p.E311K													.	.			0			c.G931A												126	122	124					18																	9887407		2203	4300	6503	SO:0001583	missense	84203	exon2			CCCAAGGAGGGTG	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.931G>A	18.37:g.9887407G>A	ENSP00000304908:p.Glu311Lys		99	0.0101010101	1		113	0.05	6	NM_001098529	0		0	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|-	12.62|12.62	1.993752|1.993752	0.35131|0.35131	.|.	.|.	ENSG00000168454|ENSG00000168454	ENST00000426718|ENST00000357775;ENST00000306084	.|T;T	.|0.10668	.|2.85;2.85	4.52|4.52	-4.64|-4.64	0.03349|0.03349	.|.	.|1.181070	.|0.06372	.|N	.|0.713675	.|T	.|0.13114	.|0.0318	L|L	0.52011|0.52011	1.625|1.625	0.09310|0.09310	N|N	1|1	.|P	.|0.39862	.|0.692	.|B	.|0.39465	.|0.3	.|T	.|0.24799	.|-1.0150	.|9	.|.	.|.	.|.	.|7.1303	16.7776|16.7776	0.85555|0.85555	0.0:0.1233:0.8005:0.0762|0.0:0.1233:0.8005:0.0762	.|.	.|311	.|Q86VQ3	.|TXND2_HUMAN	.|K	-1|244;311	.|ENSP00000350419:E244K;ENSP00000304908:E311K	.|.	.|E	+|+	.|1	.|0	TXNDC2|TXNDC2	9877407|9877407	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.974000|-0.974000	0.03794|0.03794	-1.039000|-1.039000	0.03275|0.03275	-0.969000|-0.969000	0.02612|0.02612	.|GAG			0.597	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254487.1				A	9887407	G	A	9887407	3	1	133	1	0	0	0	0	1	0	0	0	16821	1175	41	3	937	3	TXNDC2	18	9887407	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		9887407	68189841	46	9875											
MUM1	84939	mdanderson.org	37	chr19	1360218	1360218	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctggacgttctgagcGagggctcgatttggagtcaa	7	11	15	8	3	3	1	1	1	2	0	4	5	3	3	0	4	1	3	0	4	1	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr19:1360218G>T	ENST00000415183.3	+	4	327	c.301G>T	c.(301-303)Gag>Tag	p.E101*	MUM1_ENST00000311401.5_Nonsense_Mutation_p.E32*|MUM1_ENST00000591806.1_Nonsense_Mutation_p.E101*|MUM1_ENST00000344663.3_Nonsense_Mutation_p.E101*			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	100					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTCTGAGCGAGGGCTCGAT	0.592											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E101X													.	.			0			c.G301T												91	88	89					19																	1360218		2203	4300	6503	SO:0001587	stop_gained	84939	exon5			CTGAGCGAGGGCT	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.301G>T	19.37:g.1360218G>T	ENSP00000394925:p.Glu101*		78	0	0	595	104	0.05	5	NM_032853	176	0	0	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Nonsense_Mutation	SNP	ENST00000415183.3	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.199896	0.79015	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	.	.	.	4.7	1.17	0.20885	.	0.177626	0.37437	N	0.002094	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.8311	0.23911	0.0953:0.3393:0.5654:0.0	.	.	.	.	X	101;32;101;30	.	ENSP00000309135:E32X	E	+	1	0	MUM1	1311218	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	0.070000	0.14573	0.582000	0.29556	-0.136000	0.14681	GAG			0.592	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000449510.1		NM_032853		T	1360218	G	T	1360218	4	4	133	1	0	0	0	0	0	1	0	0	10001	1059	37	1	315	1	MUM1	19	1360218	Nonsense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		1360218	57768765	47	9876											
APBA3	9546	mdanderson.org	37	chr19	3751225	3751225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagctcgatgatgcgggCgtgtggcgtggccaccacac	7	6	16	12	4	0	1	0	1	0	0	1	3	0	1	2	3	3	2	2	3	0	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr19:3751225C>T	ENST00000316757.3	-	10	1818	c.1618G>A	c.(1618-1620)Gcc>Acc	p.A540T	AC005954.4_ENST00000586503.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	540	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGATGCGGGCGTGTGGCGTG	0.706																																					p.A540T													.	.			0			c.G1618A												14	13	13					19																	3751225		2153	4213	6366	SO:0001583	missense	9546	exon10			TGCGGGCGTGTGG	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1618G>A	19.37:g.3751225C>T	ENSP00000315136:p.Ala540Thr		25	0	0		41	0.07	3	NM_004886	60	0	0	O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575685	0.45902	.	.	ENSG00000011132	ENST00000316757	T	0.42131	0.98	4.45	4.45	0.53987	PDZ/DHR/GLGF (4);	0.164651	0.40469	N	0.001092	T	0.34424	0.0897	L	0.29908	0.895	0.46222	D	0.998933	P	0.46142	0.873	B	0.40636	0.335	T	0.32798	-0.9893	10	0.59425	D	0.04	.	16.1048	0.81213	0.0:1.0:0.0:0.0	.	540	O96018	APBA3_HUMAN	T	540	ENSP00000315136:A540T	ENSP00000315136:A540T	A	-	1	0	APBA3	3702225	1.000000	0.71417	0.408000	0.26446	0.068000	0.16541	5.663000	0.68038	2.028000	0.59812	0.561000	0.74099	GCC			0.706	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453634.2				T	3751225	C	T	3751225	3	4	133	1	0	0	0	0	1	0	0	0	758	768	27	1	117	1	APBA3	19	3751225	Missense_Mutation	SNP	C	TCGA-YU-A90W-01A-11D-A435-10	2391007	3751225	55377758	48	9877											
DNM2	1785	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10940946	10940946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccccaatcccatcccGgcctggaccccagagcgtgt	6	5	11	19	3	0	1	0	0	0	1	2	2	2	2	7	3	1	0	7	3	1	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr19:10940946G>T	ENST00000355667.6	+	20	2515	c.2435G>T	c.(2434-2436)cGg>cTg	p.R812L	DNM2_ENST00000359692.6_Missense_Mutation_p.R808L|DNM2_ENST00000314646.5_Missense_Mutation_p.R812L|DNM2_ENST00000585892.1_Missense_Mutation_p.R812L|DNM2_ENST00000389253.4_Missense_Mutation_p.R812L|DNM2_ENST00000408974.4_Missense_Mutation_p.R808L	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	812	Pro-rich.				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)			ATCCCATCCCGGCCTGGACCC	0.697			"F, N, Splice, Mis, O"		ETP ALL																																p.R812L				Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.			0			c.G2435T												69	72	71					19																	10940946		2203	4300	6503	SO:0001583	missense	1785	exon20			CATCCCGGCCTGG		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.2435G>T	19.37:g.10940946G>T	ENSP00000347890:p.Arg812Leu		96	0	0		177	0.11	20	NM_001005361	319	0.16	52	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	g	18.27	3.587361	0.66105	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T	0.61274	0.12;0.12;0.12	5.12	5.12	0.69794	.	0.068830	0.64402	D	0.000020	T	0.76278	0.3965	M	0.75615	2.305	0.52099	D	0.999947	D;B;D;D;D;D;D	0.69078	0.997;0.369;0.996;0.987;0.997;0.995;0.987	D;B;P;D;D;D;D	0.80764	0.994;0.097;0.762;0.931;0.986;0.968;0.931	T	0.79596	-0.1738	10	0.87932	D	0	-16.2448	17.3501	0.87321	0.0:0.0:1.0:0.0	.	406;812;541;808;808;812;812	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	L	808;808;812;812;812	ENSP00000386192:R808L;ENSP00000373905:R812L;ENSP00000313164:R812L	ENSP00000313164:R812L	R	+	2	0	DNM2	10801946	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	8.584000	0.90798	2.403000	0.81681	0.550000	0.68814	CGG			0.697	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000452592.1		NM_004945		T	10940946	G	T	10940946	3	4	133	1	0	0	0	0	1	0	0	0	4677	1116	39	1	2656	1	DNM2	19	10940946	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	7189721	10940946	48188037	49	9878											
ZNF85	7639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	21132152	21132152	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactcttactacccataagAtaattcatactggagagaaa	17	10	5	9	0	2	2	1	0	1	2	2	4	2	3	1	1	4	0	1	1	7	6			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr19:21132152A>T	ENST00000328178.8	+	4	945	c.832A>T	c.(832-834)Ata>Tta	p.I278L	ZNF85_ENST00000345030.6_Missense_Mutation_p.I245L|ZNF85_ENST00000601023.1_Missense_Mutation_p.I219L	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	278					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TACCCATAAGATAATTCATAC	0.343																																					p.I308L													.	.			0			c.A922T												26	29	28					19																	21132152		2199	4289	6488	SO:0001583	missense	7639	exon5			CATAAGATAATTC	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.832A>T	19.37:g.21132152A>T	ENSP00000329793:p.Ile278Leu		69	0	0		99	0.14	14	NM_001256171	40	0.53	21	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	2.344	-0.350528	0.05173	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.18016	2.24;2.24	1.35	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	N	0.01277	-0.915	0.80722	D	1	P;B;B	0.36010	0.532;0.421;0.162	B;B;B	0.42087	0.281;0.121;0.375	T	0.32134	-0.9918	9	0.42905	T	0.14	.	4.6815	0.12738	0.72:0.0:0.0:0.28	.	245;219;278	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	L	278;245;153	ENSP00000329793:I278L;ENSP00000342340:I245L	ENSP00000329793:I278L	I	+	1	0	ZNF85	20923992	0.000000	0.05858	0.069000	0.20011	0.028000	0.11728	-0.898000	0.04105	0.569000	0.29329	0.379000	0.24179	ATA			0.343	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463430.1		NM_003429		T	21132152	A	T	21132152	3	4	133	1	0	0	0	0	1	0	0	0	18216	333	12	5	846	5	ZNF85	19	21132152	Missense_Mutation	SNP	A	TCGA-YU-A90W-01A-11D-A435-10	10191206	21132152	37996831	50	9879											
RHPN2	85415	mdanderson.org	37	chr19	33535186	33535186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgctccggtcctcatccGcacggctttcaggatctgct	4	12	9	16	4	3	0	2	0	1	0	7	1	7	1	4	3	1	4	4	3	0	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr19:33535186G>A	ENST00000254260.3	-	2	189	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	52	Interaction with Rho.				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)					GTCCTCATCCGCACGGCTTTC	0.517																																					p.R52W													.	.			0			c.C154T												105	98	101					19																	33535186		2203	4300	6503	SO:0001583	missense	85415	exon2			TCATCCGCACGGC	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.154C>T	19.37:g.33535186G>A	ENSP00000254260:p.Arg52Trp		106	0	0		146	0.03	5	NM_033103	23	0	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872578	0.72180	.	.	ENSG00000131941	ENST00000254260	T	0.36520	1.25	5.54	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63611	-0.6598	10	0.87932	D	0	.	12.3475	0.55130	0.0:0.0:0.5837:0.4162	.	52	Q8IUC4	RHPN2_HUMAN	W	52	ENSP00000254260:R52W	ENSP00000254260:R52W	R	-	1	2	RHPN2	38227026	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.128000	0.42045	1.461000	0.47929	0.561000	0.74099	CGG			0.517	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450828.2		NM_033103		A	33535186	G	A	33535186	3	1	133	1	0	0	0	0	1	0	0	0	13374	1086	38	1	1962	1	RHPN2	19	33535186	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	12403034	33535186	25593797	51	9880											
FFAR1	2864	mdanderson.org	37	chr19	35843316	35843316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcctggcctgaagacaGtgtgtgcggcaagaacgcaa	10	6	16	9	2	0	3	0	1	0	2	1	3	1	3	2	4	2	2	2	4	4	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr19:35843316G>T	ENST00000246553.2	+	1	872	c.862G>T	c.(862-864)Gtg>Ttg	p.V288L		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	288					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCTGAAGACAGTGTGTGCGGC	0.647																																					p.V288L													.	.			0			c.G862T												15	9	11					19																	35843316		2147	4195	6342	SO:0001583	missense	2864	exon1			AAGACAGTGTGTG	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"GPCR / Class A : Fatty acid receptors"	4498	protein-coding gene	gene with protein product		603820	"G protein-coupled receptor 40"	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.862G>T	19.37:g.35843316G>T	ENSP00000246553:p.Val288Leu		31	0	0		36	0.08	3	NM_005303	0		0	Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	G	9.411	1.080525	0.20309	.	.	ENSG00000126266	ENST00000246553	T	0.20881	2.04	4.36	-0.467	0.12150	.	2.099990	0.03250	U	0.181677	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.19484	-1.0304	10	0.08599	T	0.76	1.4404	4.3076	0.10955	0.2148:0.0:0.5597:0.2255	.	288	O14842	FFAR1_HUMAN	L	288	ENSP00000246553:V288L	ENSP00000246553:V288L	V	+	1	0	FFAR1	40535156	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.242000	0.08928	-0.216000	0.10048	0.561000	0.74099	GTG			0.647	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466112.2		NM_005303		T	35843316	G	T	35843316	3	4	133	1	0	0	0	0	1	0	0	0	5840	1029	36	3	864	3	FFAR1	19	35843316	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	2308130	35843316	23285667	52	9881											
SIRT2	22933	broad.mit.edu	37	chr19	39369886	39369886	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtgctggggttggggAcccccgcccccgactgggca	5	6	16	14	2	0	1	0	1	0	0	0	3	0	2	4	5	1	3	4	5	1	1			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr19:39369886A>C	ENST00000249396.7	-	16	1380	c.1079T>G	c.(1078-1080)gTc>gGc	p.V360G	RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000392081.2_Missense_Mutation_p.V323G|RINL_ENST00000340740.3_5'Flank|SIRT2_ENST00000358931.5_3'UTR|RINL_ENST00000598904.1_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	360					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)			GGGGTTGGGGACCCCCGCCCC	0.617																																					p.V360G													.	SIRT2	29		0			c.T1079G												48	48	48					19																	39369886		2203	4300	6503	SO:0001583	missense	22933	exon16			TTGGGGACCCCCG	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.1079T>G	19.37:g.39369886A>C	ENSP00000249396:p.Val360Gly		42	0.0952380952	4		69	0.16	11	NM_012237	56	0.02	1	A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	A	3.084	-0.188327	0.06299	.	.	ENSG00000068903	ENST00000249396;ENST00000392081	T;T	0.30714	1.52;1.53	5.1	-3.47	0.04753	.	3.863390	0.01454	U	0.015610	T	0.12561	0.0305	N	0.04959	-0.14	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	0.08680	-1.0710	10	0.19590	T	0.45	-4.8064	1.8765	0.03219	0.1503:0.3212:0.2819:0.2465	.	323;360;340	Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;SIRT2_HUMAN;.	G	360;323	ENSP00000249396:V360G;ENSP00000375931:V323G	ENSP00000249396:V360G	V	-	2	0	SIRT2	44061726	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.852000	0.04308	-0.676000	0.05238	-0.407000	0.06327	GTC			0.617	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318278.1				C	39369886	A	C	39369886	3	2	133	1	0	0	0	0	1	0	0	0	14361	275	10	4	94	4	SIRT2	19	39369886	Missense_Mutation	SNP	A	TCGA-YU-A90W-01A-11D-A435-10	3526570	39369886	19759097	53	9882											
KLK11	11012	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	51526395	51526395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctggcacacaccatggTgtctgtgatgttgccggggt	6	10	14	11	2	1	1	0	1	1	0	1	1	1	1	2	4	1	3	2	4	0	1			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr19:51526395T>C	ENST00000594768.1	-	5	834	c.649A>G	c.(649-651)Acc>Gcc	p.T217A	KLK11_ENST00000453757.3_Missense_Mutation_p.T185A|KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000391804.3_Missense_Mutation_p.T210A|KLK11_ENST00000319720.7_Missense_Mutation_p.T185A|KLK10_ENST00000391805.1_5'Flank|KLK11_ENST00000600362.1_Missense_Mutation_p.T44A	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CACACCATGGTGTCTGTGATG	0.577																																					p.T217A													.	KLK11	28		0			c.A649G												145	91	109					19																	51526395		2203	4300	6503	SO:0001583	missense	11012	exon5			CCATGGTGTCTGT	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.649A>G	19.37:g.51526395T>C	ENSP00000473047:p.Thr217Ala		83	0.0120481928	1		147	0.1	14	NM_144947	0		0	O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	t	13.02	2.113504	0.37339	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.93247	-3.19;-3.19;-3.19	4.01	4.01	0.46588	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37437	U	0.002085	D	0.89403	0.6705	L	0.39898	1.24	0.26381	N	0.976739	B;P	0.37370	0.325;0.592	B;B	0.41135	0.283;0.348	T	0.80322	-0.1431	10	0.18276	T	0.48	.	10.9603	0.47381	0.0:0.0:0.0:1.0	.	217;210	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	A	210;185;185;217	ENSP00000375680:T210A;ENSP00000324269:T185A;ENSP00000413958:T185A	ENSP00000324269:T185A	T	-	1	0	KLK11	56218207	0.342000	0.24809	0.959000	0.39883	0.713000	0.41058	1.311000	0.33562	1.681000	0.50988	0.369000	0.22263	ACC			0.577	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000464314.2		NM_006853		C	51526395	T	C	51526395	3	2	133	1	0	0	0	0	1	0	0	0	8414	1696	59	4	207	4	KLK11	19	51526395	Missense_Mutation	SNP	T	TCGA-YU-A90W-01A-11D-A435-10	12156509	51526395	7602588	54	9883											
SNPH	9751	mdanderson.org	37	chr20	1285979	1285979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgacacactgagccggacgGacgcgctggaagccagcagc	11	3	14	13	4	0	2	0	2	0	0	0	5	0	5	2	3	4	2	2	3	1	0			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr20:1285979G>T	ENST00000381873.3	+	6	1002	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	SNPH_ENST00000381867.1_Missense_Mutation_p.D300Y	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	256					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAGCCGGACGGACGCGCTGGA	0.682																																					p.D256Y													.	.			0			c.G766T												35	34	34					20																	1285979		2194	4277	6471	SO:0001583	missense	9751	exon6			CGGACGGACGCGC		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.766G>T	20.37:g.1285979G>T	ENSP00000371297:p.Asp256Tyr		40	0	0		38	0.08	3	NM_014723	27	0	0	Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625464	0.66901	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	4.75	0.60458	.	0.538271	0.17643	N	0.166948	T	0.65873	0.2733	L	0.43152	1.355	0.58432	D	0.999993	D;D	0.63046	0.992;0.992	P;P	0.56700	0.804;0.804	T	0.69540	-0.5118	9	0.87932	D	0	-9.0917	17.5386	0.87841	0.0:0.0:1.0:0.0	.	300;256	O15079-2;O15079	.;SNPH_HUMAN	Y	256;300	.	ENSP00000371291:D300Y	D	+	1	0	SNPH	1233979	1.000000	0.71417	0.995000	0.50966	0.800000	0.45204	5.071000	0.64382	2.479000	0.83701	0.561000	0.74099	GAC			0.682	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000145240.2		NM_014723		T	1285979	G	T	1285979	3	4	133	1	0	0	0	0	1	0	0	0	14873	1174	41	3	780	3	SNPH	20	1285979	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		1285979	61739541	55	9884											
NCOA6	23054	hgsc.bcm.edu	37	chr20	33345720	33345721	+	In_Frame_Ins	INS	-	-	TGC																															gttgctgctgttgctgttgtINStgctgctgctgctgctgctg																								rs575791036	byFrequency	TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr20:33345720_33345721insTGC	ENST00000374796.2	-	8	3400_3401	c.830_831insGCA	c.(829-831)caa>caGCAa	p.277_277Q>QQ	NCOA6_ENST00000359003.2_In_Frame_Ins_p.277_277Q>QQ			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	277	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						gttgctgttgttgctgctgctg	0.54																																					p.Q277delinsQQ													.	NCOA6	219		0			c.831_832insGCA																																									SO:0001652	inframe_insertion	23054	exon7			CTGTTGTTGCTGC	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.828_830dupGCA	20.37:g.33345727_33345729dupTGC	ENSP00000363929:p.Gln285dup		58	0	0		99	0.11	11	NM_014071	23	0	0	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Ins	INS	ENST00000374796.2	37	CCDS13241.1																																																																																					0.54	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078811.2		NM_014071		TGC	33345721	-	TGC	33345720	7	5	133	1	0	1	1	0	0	0	0	0	10250	1722	60	0	5396	0	NCOA6	20	33345720	In_Frame_Ins	INS	-	TCGA-YU-A90W-01A-11D-A435-10	32059741	33345720	29679800	56	9885											
ARVCF	421	broad.mit.edu	37	chr22	19964943	19964943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccgccccacccacctttgGccttcttgcctccaaagcag	6	9	7	19	1	1	0	0	0	1	0	3	0	3	0	8	1	2	1	8	1	1	3			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr22:19964943G>T	ENST00000263207.3	-	9	2156	c.1865C>A	c.(1864-1866)gCc>gAc	p.A622D	ARVCF_ENST00000344269.3_Missense_Mutation_p.A559D|ARVCF_ENST00000401994.1_Missense_Mutation_p.A559D|ARVCF_ENST00000406522.1_Missense_Mutation_p.A559D|ARVCF_ENST00000406259.1_Missense_Mutation_p.A622D	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	622					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)					CCCACCTTTGGCCTTCTTGCC	0.652																																					p.A622D													.	ARVCF	54		0			c.C1865A												87	85	86					22																	19964943		2203	4300	6503	SO:0001583	missense	421	exon9			CCTTTGGCCTTCT		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.1865C>A	22.37:g.19964943G>T	ENSP00000263207:p.Ala622Asp		167	0	0		237	0.02	5	NM_001670	45	0	0	B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241889	0.79912	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	4.05	4.05	0.47172	Armadillo-type fold (1);	0.168793	0.52532	D	0.000072	T	0.66137	0.2759	L	0.36672	1.1	0.80722	D	1	B;P	0.49253	0.302;0.921	B;B	0.41466	0.174;0.358	T	0.67417	-0.5676	9	.	.	.	-9.5472	17.1156	0.86688	0.0:0.0:1.0:0.0	.	622;144	O00192;E7EV58	ARVC_HUMAN;.	D	622;559;559;559;622	ENSP00000263207:A622D;ENSP00000342042:A559D;ENSP00000384341:A559D;ENSP00000384732:A559D;ENSP00000385444:A622D	.	A	-	2	0	ARVCF	18344943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.587000	0.36622	2.549000	0.85964	0.563000	0.77884	GCC			0.652	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000075314.5		NM_001670		T	19964943	G	T	19964943	3	4	133	1	0	0	0	0	1	0	0	0	1003	1203	42	2	1067	2	ARVCF	22	19964943	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10		19964943	31339623	57	9886											
SEZ6L	23544	broad.mit.edu	37	chr22	26688869	26688869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggtccctacaacacccGcacccctgcaaatctccccc	8	6	6	21	2	1	0	0	0	1	0	3	0	2	0	6	1	4	2	6	1	3	1			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr22:26688869G>T	ENST00000248933.6	+	2	687	c.592G>T	c.(592-594)Gca>Tca	p.A198S	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A198S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A198S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A198S|SEZ6L_ENST00000529632.2_Missense_Mutation_p.A198S|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	198					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						TACAACACCCGCACCCCTGCA	0.667																																					p.A198S													.	SEZ6L	174		0			c.G592T												55	58	57					22																	26688869		2203	4298	6501	SO:0001583	missense	23544	exon2			ACACCCGCACCCC	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.592G>T	22.37:g.26688869G>T	ENSP00000248933:p.Ala198Ser		178	0	0		210	0.02	4	NM_001184777	3	0	0	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003893	0.35320	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.28069	1.86;1.98;2.06;1.87;1.63	4.49	3.38	0.38709	.	0.165679	0.28431	N	0.015367	T	0.16128	0.0388	N	0.08118	0	0.21386	N	0.999706	P;P;P;D;P;P	0.53312	0.826;0.826;0.891;0.959;0.826;0.826	B;B;B;P;B;B	0.45753	0.103;0.103;0.28;0.492;0.103;0.103	T	0.09185	-1.0686	10	0.18710	T	0.47	.	9.3053	0.37872	0.0:0.1658:0.685:0.1491	.	198;198;198;198;198;198	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	S	198	ENSP00000384772:A198S;ENSP00000437037:A198S;ENSP00000354185:A198S;ENSP00000248933:A198S;ENSP00000342661:A198S	ENSP00000248933:A198S	A	+	1	0	SEZ6L	25018869	0.002000	0.14202	0.070000	0.20053	0.148000	0.21650	0.910000	0.28571	2.216000	0.71823	0.508000	0.49915	GCA			0.667	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320359.3				T	26688869	G	T	26688869	3	4	133	1	0	0	0	0	1	0	0	0	14166	1087	38	1	598	1	SEZ6L	22	26688869	Missense_Mutation	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	6723926	26688869	24615697	58	9887											
APOBEC3A	200315	hgsc.bcm.edu	37	chr22	39357586	39357586	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacacacgtgagactgcgTatcttcgctgcccgcatcta	10	9	8	14	4	2	1	0	1	2	1	3	2	2	1	1	0	3	3	1	0	3	3	rs202076860	byFrequency	TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chr22:39357586T>C	ENST00000402255.1	+	4	573	c.369T>C	c.(367-369)cgT>cgC	p.R123R	APOBEC3A_ENST00000249116.2_Silent_p.R123R			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	123					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					TGAGACTGCGTATCTTCGCTG	0.572													C|||	105	0.0209665	0.0083	0.0086	5008	,	,		10140	0.0486		0.0249	False		,,,				2504	0.0143				p.R123R													APOBEC3A,caecum,carcinoma,+1,1	APOBEC3A	1	1	0			c.T369C												101	99	100					22																	39357586		2128	4075	6203	SO:0001819	synonymous_variant	200315	exon3			ACTGCGTATCTTC	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"Apolipoprotein B mRNA editing enzymes"	17343	protein-coding gene	gene with protein product	"phorbolin I"	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.369T>C	22.37:g.39357586T>C			78	0.0128205128	1		54	0.11	6	NM_145699	2	0	0	A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	CCDS13981.1																																																																																			0.001		0.572	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320915.2		NM_145699		C	39357586	T	C	39357586	2	2	133	1	0	0	0	0	0	0	0	1	789	1625	57	4		4	APOBEC3A	22	39357586	Silent	SNP	T	TCGA-YU-A90W-01A-11D-A435-10	12668717	39357586	11946980	59	9888											
CHRDL1	91851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	109924730	109924730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcgaatagtccaaacgTggacctctacctgaggtggt	9	11	10	11	2	1	1	0	1	1	0	3	3	2	2	4	3	2	0	4	3	4	3			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chrX:109924730T>C	ENST00000372045.1	-	10	1243	c.1112A>G	c.(1111-1113)cAc>cGc	p.H371R	CHRDL1_ENST00000434224.1_Missense_Mutation_p.H298R|CHRDL1_ENST00000482160.1_Missense_Mutation_p.H299R|CHRDL1_ENST00000372042.1_Missense_Mutation_p.H379R|CHRDL1_ENST00000394797.4_Missense_Mutation_p.H377R|CHRDL1_ENST00000218054.4_Missense_Mutation_p.H377R|CHRDL1_ENST00000444321.2_Missense_Mutation_p.H378R			Q9BU40	CRDL1_HUMAN	chordin-like 1	371					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AGTCCAAACGTGGACCTCTAC	0.443																																					p.H379R													.	.			0			c.A1136G												187	142	157					X																	109924730		2203	4300	6503	SO:0001583	missense	91851	exon10			CAAACGTGGACCT	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1112A>G	X.37:g.109924730T>C	ENSP00000361115:p.His371Arg		154	0	0		164	0.48	79	NM_001143981	11	0.55	6	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37		.	.	.	.	.	.	.	.	.	.	T	19.17	3.775656	0.70107	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.30981	2.26;1.51;2.26;2.26;2.52;1.51;2.25	4.97	4.97	0.65823	.	0.050618	0.85682	D	0.000000	T	0.40670	0.1126	L	0.27053	0.805	0.47698	D	0.999498	D;D;D;D;D;D	0.57899	0.978;0.981;0.981;0.981;0.981;0.981	D;D;D;D;D;D	0.69824	0.942;0.966;0.966;0.966;0.966;0.95	T	0.16305	-1.0407	9	.	.	.	-13.8337	14.3338	0.66576	0.0:0.0:0.0:1.0	.	299;378;358;371;379;298	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	R	371;298;377;377;379;299;378	ENSP00000361115:H371R;ENSP00000389627:H298R;ENSP00000218054:H377R;ENSP00000378276:H377R;ENSP00000361112:H379R;ENSP00000418443:H299R;ENSP00000399739:H378R	.	H	-	2	0	CHRDL1	109811386	1.000000	0.71417	0.958000	0.39756	0.974000	0.67602	5.579000	0.67457	1.921000	0.55644	0.437000	0.28790	CAC			0.443	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000057912.1		NM_145234		C	109924730	T	C	109924730	3	2	133	1	0	0	0	0	1	0	0	0	3375	1696	59	4	252	4	CHRDL1	23	109924730	Missense_Mutation	SNP	T	TCGA-YU-A90W-01A-11D-A435-10		109924730	45345830	60	9889											
ARHGAP36	158763	mdanderson.org	37	chrX	130219013	130219013	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctgctgccagatgatctGtacatgtcattcctcctgac	7	14	7	13	0	3	3	1	2	2	1	6	3	5	3	3	0	3	2	3	0	1	2			TCGA-YU-A90W-01A-11D-A435-10	TCGA-YU-A90W-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	88e283c8-569b-4e2a-81ec-1d38873ec4f8	1374f899-bff2-4251-a5f5-309ce22bb20f	g.chrX:130219013G>T	ENST00000276211.5	+	7	1275	c.930G>T	c.(928-930)ctG>ctT	p.L310L	ARHGAP36_ENST00000370922.1_Silent_p.L298L|ARHGAP36_ENST00000370921.1_Silent_p.L174L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	310	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)			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						CAGATGATCTGTACATGTCAT	0.488																																					p.L310L													.	.			0			c.G930T												135	112	120					X																	130219013		2203	4300	6503	SO:0001819	synonymous_variant	158763	exon7			TGATCTGTACATG		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.930G>T	X.37:g.130219013G>T			56	0.0178571429	1		56	0.05	3	NM_144967	6	0	0	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	CCDS14628.1																																																																																					0.488	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355073.1		NM_144967		T	130219013	G	T	130219013	2	4	133	1	0	0	0	0	0	0	0	1	883	1364	48	3		3	ARHGAP36	23	130219013	Silent	SNP	G	TCGA-YU-A90W-01A-11D-A435-10	20294283	130219013	25051547	61	9890											
DAB1	1600	mdanderson.org	37	chr1	57480875	57480875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggaacatggcagctggCaaaggcataacagtttgtgt	11	10	12	8	0	0	0	0	0	0	0	0	1	0	1	1	4	3	5	1	4	3	3			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr1:57480875C>T	ENST00000371231.1	-	13	1258	c.1224G>A	c.(1222-1224)ttG>ttA	p.L408L	DAB1_ENST00000371234.4_Silent_p.L375L|DAB1_ENST00000414851.2_Silent_p.L357L|DAB1_ENST00000371236.2_Silent_p.L375L|DAB1_ENST00000439789.2_Silent_p.L289L|DAB1_ENST00000420954.2_Silent_p.L373L|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	408					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGCAGCTGGCAAAGGCATAA	0.632																																					p.L375L													.	.			0			c.G1125A												86	73	77					1																	57480875		2203	4300	6503	SO:0001819	synonymous_variant	1600	exon14			AGCTGGCAAAGGC	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1224G>A	1.37:g.57480875C>T			78	0	0		49	0.06	3	NM_021080	1	0	0	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37																																																																																						0.632	DAB1-010	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000027962.1		NM_021080		T	57480875	C	T	57480875	2	4	134	1	0	0	0	0	0	0	0	1	4219	709	25	2		2	DAB1	1	57480875	Silent	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10		57480875	191769746	1	9891											
RNPC3	55599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	104068861	104068861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggggctcagtctgtgcggGtcctgtcagataaggggcga	6	9	17	9	3	3	1	2	0	1	1	5	2	4	1	1	5	1	1	1	5	1	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr1:104068861G>A	ENST00000533099.1	+	2	405	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	RP11-153F1.1_ENST00000444810.1_RNA|RP11-153F1.1_ENST00000447322.2_RNA|RN7SKP285_ENST00000410137.1_RNA|RNPC3_ENST00000423855.2_Missense_Mutation_p.V57I|RNPC3_ENST00000524631.1_Missense_Mutation_p.V57I			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	57	Necessary for interaction with PDCD7.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		GTCTGTGCGGGTCCTGTCAGA	0.627																																					p.V57I													.	.			0			c.G169A												52	50	51					1																	104068861		692	1591	2283	SO:0001583	missense	55599	exon1			GTGCGGGTCCTGT	AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"RNA binding motif (RRM) containing"	18666	protein-coding gene	gene with protein product	"U11/U12 snRNP 65K"					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.169G>A	1.37:g.104068861G>A	ENSP00000432886:p.Val57Ile		162	0	0		117	0.15	17	NM_017619	6	0.17	1	A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Missense_Mutation	SNP	ENST00000533099.1	37	CCDS781.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943440	0.53079	.	.	ENSG00000185946	ENST00000524631;ENST00000531883;ENST00000533099;ENST00000423855	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	4.95	4.95	0.65309	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.116998	0.56097	D	0.000026	T	0.11281	0.0275	L	0.39633	1.23	0.41843	D	0.990132	B;B	0.27853	0.191;0.055	B;B	0.39152	0.292;0.109	T	0.11991	-1.0565	10	0.25106	T	0.35	-40.0503	16.1396	0.81513	0.0:0.0:1.0:0.0	.	57;57	A8K1C9;Q96LT9	.;RBM40_HUMAN	I	57	ENSP00000437278:V57I;ENSP00000431344:V57I;ENSP00000432886:V57I;ENSP00000391432:V57I	ENSP00000391432:V57I	V	+	1	0	RNPC3	103841449	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.457000	0.60088	2.564000	0.86499	0.462000	0.41574	GTC			0.627	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390812.1		NM_017619		A	104068861	G	A	104068861	3	1	134	1	0	0	0	0	1	0	0	0	13531	1261	44	3	171	3	RNPC3	1	104068861	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	46587986	104068861	145181760	2	9892											
ZNF697	90874	broad.mit.edu;mdanderson.org	37	chr1	120165996	120165996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgagctgaggctgaaggcctCgccgcactcggggcacgggt	6	5	17	13	5	0	2	0	2	0	0	2	3	0	2	2	5	1	4	2	5	1	0			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr1:120165996C>G	ENST00000421812.2	-	3	1089	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CTGAAGGCCTCGCCGCACTCG	0.761																																					p.E324Q													.	ZNF697	26		0			c.G970C												3	4	4					1																	120165996		1943	3861	5804	SO:0001583	missense	90874	exon3			AGGCCTCGCCGCA	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.970G>C	1.37:g.120165996C>G	ENSP00000396857:p.Glu324Gln		8	0	0		17	0.18	3	NM_001080470	2	0	0	Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513052	0.27123	.	.	ENSG00000143067	ENST00000421812	T	0.18016	2.24	4.38	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.11673	0.155	0.26498	N	0.974824	D	0.64830	0.994	D	0.64321	0.924	T	0.12630	-1.0540	9	0.54805	T	0.06	.	7.1213	0.25446	0.0:0.792:0.0:0.208	.	324	Q5TEC3	ZN697_HUMAN	Q	324	ENSP00000396857:E324Q	ENSP00000396857:E324Q	E	-	1	0	ZNF697	119967519	0.146000	0.22672	0.991000	0.47740	0.038000	0.13279	0.859000	0.27858	0.984000	0.38629	-0.373000	0.07131	GAG			0.761	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036349.3		XM_371286		G	120165996	C	G	120165996	3	3	134	1	0	0	0	0	1	0	0	0	18123	893	31	5	671	5	ZNF697	1	120165996	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	16097135	120165996	129084625	3	9893											
NUDT17	200035	hgsc.bcm.edu	37	chr1	145589328	145589328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaatgggccacgtccCgagccctggtccggctccca	6	6	13	16	3	0	1	0	1	0	0	3	2	3	1	5	3	1	2	5	3	1	0			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr1:145589328C>T	ENST00000334513.5	-	1	111	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	34							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCCACGTCCCGAGCCCTGGT	0.687											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G34R													NUDT17,NS,carcinoma,+2,1	NUDT17	2	1	0			c.G100A												13	12	12					1																	145589328		2188	4281	6469	SO:0001583	missense	200035	exon1			ACGTCCCGAGCCC	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"Nudix motif containing"	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.100G>A	1.37:g.145589328C>T	ENSP00000334437:p.Gly34Arg		80	0	0	1695	73	0.05	4	NM_001012758	2	0	0		Missense_Mutation	SNP	ENST00000334513.5	37	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228986	0.58777	.	.	ENSG00000186364	ENST00000334513	.	.	.	3.93	3.93	0.45458	.	0.139265	0.48286	D	0.000199	T	0.65678	0.2714	M	0.72479	2.2	0.34499	D	0.705864	D;D	0.89917	1.0;1.0	D;D	0.87578	0.979;0.998	T	0.70999	-0.4719	9	0.72032	D	0.01	-19.2691	11.3342	0.49494	0.0:1.0:0.0:0.0	.	34;34	B4DNV8;P0C025	.;NUD17_HUMAN	R	34	.	ENSP00000334437:G34R	G	-	1	0	NUDT17	144300685	0.946000	0.32159	0.873000	0.34254	0.113000	0.19764	1.010000	0.29898	2.026000	0.59711	0.585000	0.79938	GGG			0.687	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000038541.3		XM_496395		T	145589328	C	T	145589328	3	4	134	1	0	0	0	0	1	0	0	0	10751	652	23	1	918	1	NUDT17	1	145589328	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	25423332	145589328	103661293	4	9894											
FAM176A	84141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	75720472	75720472	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctgggcgcgctccagctCctccgcagaggtgaacacat	7	6	12	16	4	0	2	0	1	0	1	3	2	3	2	4	2	2	4	4	2	1	0			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr2:75720472C>A	ENST00000233712.1	-	4	786	c.349G>T	c.(349-351)Gag>Tag	p.E117*	EVA1A_ENST00000393913.3_Nonsense_Mutation_p.E117*|EVA1A_ENST00000410010.1_Nonsense_Mutation_p.E105*|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Nonsense_Mutation_p.E117*|EVA1A_ENST00000410071.1_Nonsense_Mutation_p.E117*	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	117					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											CGCTCCAGCTCCTCCGCAGAG	0.632																																					p.E117X													.	.			0			c.G349T												44	47	46					2																	75720472		2203	4300	6503	SO:0001587	stop_gained	84141	exon4			CCAGCTCCTCCGC	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.349G>T	2.37:g.75720472C>A	ENSP00000233712:p.Glu117*		170	0	0		154	0.22	34	NM_032181	5	0.2	1	D6W5J3|Q9HC41	Nonsense_Mutation	SNP	ENST00000233712.1	37	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	40	8.087733	0.98648	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649	.	.	.	5.05	5.05	0.67936	.	0.089559	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	0.5233	16.7196	0.85407	0.0:1.0:0.0:0.0	.	.	.	.	X	117;117;117;105;117;117	.	ENSP00000233712:E117X	E	-	1	0	FAM176A	75573980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.722000	0.93159	0.655000	0.94253	GAG			0.632	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328707.1		NM_032181		A	75720472	C	A	75720472	4	1	134	1	0	0	0	0	0	1	0	0	5509	864	30	3	113	3	FAM176A	2	75720472	Nonsense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10		75720472	167478901	5	9895											
CCNT2	905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	135694499	135694499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaagtagcacatgcttGtcttcatcctctagagccac	11	12	6	12	0	4	1	2	0	2	1	5	1	5	1	2	0	3	3	2	0	4	5			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr2:135694499G>C	ENST00000264157.5	+	3	359	c.329G>C	c.(328-330)tGt>tCt	p.C110S	CCNT2_ENST00000295238.6_Missense_Mutation_p.C110S|CCNT2_ENST00000537343.1_5'UTR	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	110					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GCACATGCTTGTCTTCATCCT	0.338																																					p.C110S													.	.			0			c.G329C												138	138	138					2																	135694499		2203	4300	6503	SO:0001583	missense	905	exon3			ATGCTTGTCTTCA	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.329G>C	2.37:g.135694499G>C	ENSP00000264157:p.Cys110Ser		90	0	0		112	0.09	10	NM_058241	26	0.27	7	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622199	0.87460	.	.	ENSG00000082258	ENST00000295238;ENST00000264157	T;T	0.40225	1.04;1.04	5.39	5.39	0.77823	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	L	0.56396	1.775	0.80722	D	1	P;P	0.39696	0.563;0.683	B;B	0.39503	0.301;0.213	T	0.50825	-0.8782	10	0.66056	D	0.02	.	19.5203	0.95182	0.0:0.0:1.0:0.0	.	110;110	O60583;O60583-2	CCNT2_HUMAN;.	S	110	ENSP00000295238:C110S;ENSP00000264157:C110S	ENSP00000264157:C110S	C	+	2	0	CCNT2	135410969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.678000	0.91216	0.655000	0.94253	TGT			0.338	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254629.1		NM_058241		C	135694499	G	C	135694499	3	2	134	1	0	0	0	0	1	0	0	0	2937	1377	48	5	339	5	CCNT2	2	135694499	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	59974027	135694499	107504874	6	9896											
LCT	3938	broad.mit.edu	37	chr2	136575423	136575423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccctcggcccagcctcCttccacgttaaaggctcctg	6	8	7	20	2	0	0	0	0	0	0	4	0	3	0	7	2	1	2	7	2	2	2			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr2:136575423C>T	ENST00000264162.2	-	6	1205	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	399	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)	GCCCAGCCTCCTTCCACGTTA	0.622																																					p.G399R													.	LCT	309		0			c.G1195A												62	68	66					2																	136575423		2203	4300	6503	SO:0001583	missense	3938	exon6			AGCCTCCTTCCAC	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.1195G>A	2.37:g.136575423C>T	ENSP00000264162:p.Gly399Arg		72	0	0		72	0.04	3	NM_002299	0		0	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566167	0.86439	.	.	ENSG00000115850	ENST00000264162	T	0.70516	-0.49	5.25	5.25	0.73442	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90055	0.6894	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92750	0.6215	10	0.87932	D	0	-19.7411	19.3941	0.94598	0.0:1.0:0.0:0.0	.	399	P09848	LPH_HUMAN	R	399	ENSP00000264162:G399R	ENSP00000264162:G399R	G	-	1	0	LCT	136291893	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	7.609000	0.82925	2.885000	0.99019	0.655000	0.94253	GGA			0.622	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254657.1		NM_002299		T	136575423	C	T	136575423	3	4	134	1	0	0	0	0	1	0	0	0	8708	690	24	3	4636	3	LCT	2	136575423	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	880924	136575423	106623950	7	9897											
NT5DC2	64943	mdanderson.org	37	chr3	52558490	52558490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaataaaggtgccctcagCggatgtgggccatgtcacca	11	7	12	11	1	2	0	2	0	0	0	2	2	2	1	3	3	2	0	3	3	3	1	rs200568224		TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr3:52558490C>T	ENST00000307076.4	-	14	1959	c.1559G>A	c.(1558-1560)cGc>cAc	p.R520H	NT5DC2_ENST00000422318.2_Missense_Mutation_p.R557H|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R461H|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R532H|STAB1_ENST00000321725.6_3'UTR	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	520							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GTGCCCTCAGCGGATGTGGGC	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		19169	0		0	False		,,,				2504	0				p.R557H													NT5DC2,NS,carcinoma,-1,1	NT5DC2	-1	1	0			c.G1670A												82	92	89					3																	52558490		2203	4299	6502	SO:0001583	missense	64943	exon14			CCTCAGCGGATGT	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1559G>A	3.37:g.52558490C>T	ENSP00000302468:p.Arg520His		70	0	0		32	0.09	3	NM_001134231	430	0	0	C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721767	0.89298	.	.	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T	0.27402	1.79;1.73;1.67;1.75	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.66847	0.947;0.912;0.935	T	0.54173	-0.8333	10	0.87932	D	0	.	14.7716	0.69684	0.0:0.9308:0.0:0.0692	.	532;520;557	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	H	461;194;520;557;532	ENSP00000306017:R461H;ENSP00000302468:R520H;ENSP00000406933:R557H;ENSP00000419547:R532H	ENSP00000302468:R520H	R	-	2	0	NT5DC2	52533530	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.596000	0.61055	1.457000	0.47850	-0.136000	0.14681	CGC			0.622	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000351509.1		NM_022908		T	52558490	C	T	52558490	3	4	134	1	0	0	0	0	1	0	0	0	10708	768	27	1	7	1	NT5DC2	3	52558490	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10		52558490	145463940	8	9898											
ADCY5	111	mdanderson.org	37	chr3	123071367	123071367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgggagacctcagccGgatagtgggtgcagacaccc	8	7	14	12	1	2	2	1	0	1	2	3	4	2	3	3	3	2	1	3	3	1	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr3:123071367G>T	ENST00000462833.1	-	2	2408	c.1196C>A	c.(1195-1197)cCg>cAg	p.P399Q	ADCY5_ENST00000470367.1_5'UTR|ADCY5_ENST00000491190.1_Missense_Mutation_p.P32Q|ADCY5_ENST00000309879.5_Missense_Mutation_p.P49Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	399					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GACCTCAGCCGGATAGTGGGT	0.597																																					p.P399Q													.	.			0			c.C1196A												73	73	73					3																	123071367		2203	4300	6503	SO:0001583	missense	111	exon2			TCAGCCGGATAGT	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1196C>A	3.37:g.123071367G>T	ENSP00000419361:p.Pro399Gln		42	0	0		44	0.07	3	NM_183357	3	0	0	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890212	0.91889	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.81078	-1.04;-1.45;-1.42	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	D	0.88254	0.6387	M	0.79805	2.47	0.80722	D	1	P;D	0.59767	0.914;0.986	B;P	0.56960	0.247;0.81	D	0.89136	0.3513	10	0.52906	T	0.07	.	18.4045	0.90529	0.0:0.0:1.0:0.0	.	399;32	O95622;B3KWA8	ADCY5_HUMAN;.	Q	399;32;49	ENSP00000419361:P399Q;ENSP00000418537:P32Q;ENSP00000308685:P49Q	ENSP00000308685:P49Q	P	-	2	0	ADCY5	124554057	1.000000	0.71417	0.955000	0.39395	0.762000	0.43233	7.748000	0.85085	2.571000	0.86741	0.561000	0.74099	CCG			0.597	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355889.4		XM_171048		T	123071367	G	T	123071367	3	4	134	1	0	0	0	0	1	0	0	0	297	1116	39	1	2669	1	ADCY5	3	123071367	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	70512877	123071367	74951063	9	9899											
CPN2	1370	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	194062671	194062671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggagagcggcaggtgcGtgatggcgttgcgttgcagc	7	8	19	7	4	0	3	0	1	0	2	0	4	0	3	0	4	5	4	0	4	0	2			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr3:194062671G>T	ENST00000323830.3	-	2	850	c.761C>A	c.(760-762)aCg>aAg	p.T254K	CPN2_ENST00000429275.1_Missense_Mutation_p.T254K	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	254					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.T254K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CGGCAGGTGCGTGATGGCGTT	0.597																																					p.T254K													CPN2,NS,carcinoma,0,1	CPN2	0	1	1	Substitution - Missense(1)	lung(1)	c.C761A												47	49	48					3																	194062671		2203	4300	6503	SO:0001583	missense	1370	exon2			AGGTGCGTGATGG	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.761C>A	3.37:g.194062671G>T	ENSP00000319464:p.Thr254Lys		126	0	0		158	0.11	18	NM_001080513	3	0	0	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.445029	0.00178	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.10763	2.84;2.84	5.05	-1.03	0.10102	.	2.956720	0.01430	N	0.014703	T	0.08846	0.0219	L	0.45228	1.405	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.26815	-1.0092	10	0.09084	T	0.74	.	3.2569	0.06835	0.125:0.3226:0.3917:0.1607	.	254	P22792	CPN2_HUMAN	K	254	ENSP00000319464:T254K;ENSP00000402232:T254K	ENSP00000319464:T254K	T	-	2	0	CPN2	195544366	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.200000	0.17257	-0.092000	0.12417	-0.311000	0.09066	ACG			0.597	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342856.2		NM_001080513		T	194062671	G	T	194062671	3	4	134	1	0	0	0	0	1	0	0	0	3812	1145	40	1	880	1	CPN2	3	194062671	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	70991304	194062671	3959759	10	9900											
DOK7	285489	mdanderson.org	37	chr4	3494873	3494873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgagcccagcctgtgcaCctgcctgcccgggacagtcg	5	5	12	19	3	0	0	0	0	0	0	1	2	0	1	7	1	5	1	7	1	0	0			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr4:3494873C>A	ENST00000340083.5	+	7	1225	c.1160C>A	c.(1159-1161)aCc>aAc	p.T387N	DOK7_ENST00000389653.2_Missense_Mutation_p.T387N|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	387					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGCCTGTGCACCTGCCTGCCC	0.692																																					p.T387N													.	.			0			c.C1160A												11	12	11					4																	3494873		2180	4282	6462	SO:0001583	missense	285489	exon7			TGTGCACCTGCCT	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1160C>A	4.37:g.3494873C>A	ENSP00000344432:p.Thr387Asn		39	0	0		33	0.09	3	NM_173660	1	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	c	10.72	1.429009	0.25726	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.70164	-0.46;-0.36	3.77	2.93	0.34026	.	0.282688	0.32147	N	0.006507	T	0.54143	0.1840	L	0.32530	0.975	0.24048	N	0.996052	B;P;B	0.42409	0.256;0.779;0.072	B;B;B	0.41036	0.062;0.346;0.026	T	0.45991	-0.9223	10	0.39692	T	0.17	-23.9499	10.5809	0.45255	0.0:0.9048:0.0:0.0952	.	387;249;387	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	N	387	ENSP00000374304:T387N;ENSP00000344432:T387N	ENSP00000344432:T387N	T	+	2	0	DOK7	3464671	0.155000	0.22806	0.367000	0.25926	0.079000	0.17450	0.794000	0.26958	0.818000	0.34468	-0.263000	0.10527	ACC			0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000313538.1		NM_173660		A	3494873	C	A	3494873	3	1	134	1	0	0	0	0	1	0	0	0	4707	507	18	3	1186	3	DOK7	4	3494873	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10		3494873	187659403	11	9901											
BRD8	10902	mdanderson.org	37	chr5	137513290	137513290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccacttctcatgacagaaGatgctaaacatagcttctct	12	11	6	12	1	2	3	1	1	2	2	4	3	2	3	1	0	3	2	1	0	4	4			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr5:137513290G>T	ENST00000254900.5	-	2	457	c.86C>A	c.(85-87)tCt>tAt	p.S29Y	BRD8_ENST00000230901.5_Missense_Mutation_p.S29Y|BRD8_ENST00000455658.2_Silent_p.I11I|BRD8_ENST00000411594.2_Missense_Mutation_p.S29Y|BRD8_ENST00000402931.1_Missense_Mutation_p.S29Y|KIF20A_ENST00000394894.3_5'Flank|KIF20A_ENST00000508792.1_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	29					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)			CATGACAGAAGATGCTAAACA	0.428																																					p.S29Y													.	.			0			c.C86A												125	115	118					5																	137513290		2203	4300	6503	SO:0001583	missense	10902	exon2			ACAGAAGATGCTA	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.86C>A	5.37:g.137513290G>T	ENSP00000254900:p.Ser29Tyr		56	0	0		53	0.06	3	NM_139199	68	0	0	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.424515|5.424515	0.96111|0.96111	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000441656|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000430331	.|T;T;T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54;1.54;1.54;1.54	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.052912	.|0.85682	.|D	.|0.000000	T|T	0.56441|0.56441	0.1985|0.1985	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.997;0.997;0.999	.|D;D;D	.|0.83275	.|0.994;0.994;0.996	T|T	0.54490|0.54490	-0.8286|-0.8286	5|10	.|0.87932	.|D	.|0	-11.4378|-11.4378	19.5352|19.5352	0.95251|0.95251	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|29;29;29	.|Q9H0E9-4;Q9H0E9-2;Q9H0E9	.|.;.;BRD8_HUMAN	I|Y	23|29;24;24;29;29;29;29	.|ENSP00000254900:S29Y;ENSP00000398067:S24Y;ENSP00000398873:S24Y;ENSP00000230901:S29Y;ENSP00000384845:S29Y;ENSP00000394330:S29Y;ENSP00000407414:S29Y	.|ENSP00000230901:S29Y	L|S	-|-	1|2	0|0	BRD8|BRD8	137541189|137541189	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	9.662000|9.662000	0.98603|0.98603	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CTT|TCT			0.428	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251282.3		NM_006696		T	137513290	G	T	137513290	3	4	134	1	0	0	0	0	1	0	0	0	1508	942	33	3	4012	3	BRD8	5	137513290	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10		137513290	43401970	12	9902											
TNXB	7148	hgsc.bcm.edu	37	chr6	32024600	32024600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggggtggcatctgtcaTggtcagctcccccaggcgag	6	8	15	12	1	4	0	3	0	1	0	5	1	5	0	2	5	1	2	2	5	0	0	rs369180703		TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr6:32024600T>C	ENST00000375244.3	-	23	8107	c.7906A>G	c.(7906-7908)Atg>Gtg	p.M2636V	TNXB_ENST00000375247.2_Missense_Mutation_p.M2636V			P22105	TENX_HUMAN	tenascin XB	2696	Fibronectin type-III 18. {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						GCATCTGTCATGGTCAGCTCC	0.622													C|||	1	0.000199681	0	0	5008	,	,		14585	0.001		0	False		,,,				2504	0				p.M2636V													TNXB_ENST00000375247,NS,carcinoma,0,2	TNXB_ENST00000375247	0	2	0			c.A7906G												93	108	103					6																	32024600		1332	2580	3912	SO:0001583	missense	7148	exon23			CTGTCATGGTCAG	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.7906A>G	6.37:g.32024600T>C	ENSP00000364393:p.Met2636Val		133	0.015037594	2		120	0.04	5	NM_019105	22	0	0	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	C	0.016	-1.525769	0.00959	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.50277	0.75;0.75	4.09	4.09	0.47781	.	0.000000	0.44902	N	0.000410	T	0.01287	0.0042	N	0.00002	-3.62	0.20821	N	0.999849	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	10	0.02654	T	1	.	9.2792	0.37718	0.0:0.8947:0.0:0.1053	.	2636	P22105-3	.	V	2636	ENSP00000364393:M2636V;ENSP00000364396:M2636V	ENSP00000364393:M2636V	M	-	1	0	TNXB	32132578	0.967000	0.33354	0.740000	0.30986	0.312000	0.27988	2.493000	0.45320	0.726000	0.32339	-0.665000	0.03846	ATG			0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000268927.2		NM_019105		C	32024600	T	C	32024600	3	2	134	1	0	0	0	0	1	0	0	0	16369	1464	51	4	6895	4	TNXB	6	32024600	Missense_Mutation	SNP	T	TCGA-YU-A90Y-01A-11D-A435-10		32024600	139090467	13	9903											
ETV7	51513	mdanderson.org	37	chr6	36343801	36343801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccctgctccacagtgCgggctggatgcctgcaacca	6	8	11	16	1	0	0	0	0	0	0	3	1	3	1	5	2	5	3	5	2	1	0	rs145194281	byFrequency	TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr6:36343801C>T	ENST00000340181.4	-	3	395	c.154G>A	c.(154-156)Gca>Aca	p.A52T	ETV7_ENST00000373738.1_Intron|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000339796.5_Missense_Mutation_p.A52T|ETV7_ENST00000373737.4_Missense_Mutation_p.A52T	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	52	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	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 RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTCCACAGTGCGGGCTGGATG	0.632													C|||	2	0.000399361	0	0	5008	,	,		18610	0.001		0	False		,,,				2504	0.001				p.A52T													ETV7,caecum,carcinoma,0,1	ETV7	0	1	0			c.G154A							C	,,,,,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	60	50	53		,,,,,154,154,154	0.2	0.8	6	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	intron,utr-5,intron,utr-5,intron,missense,missense,missense	ETV7	NM_001207036.1,NM_001207037.1,NM_001207039.1,NM_001207040.1,NM_001207041.1,NM_016135.3,NM_001207038.1,NM_001207035.1	,,,,,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,benign,benign,benign	,,,,,52/342,52/265,52/318	36343801	1,13005	2203	4300	6503	SO:0001583	missense	51513	exon3			ACAGTGCGGGCTG	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.154G>A	6.37:g.36343801C>T	ENSP00000341843:p.Ala52Thr		15	0	0		19	0.11	2	NM_016135	4	0	0	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	CCDS4819.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.749	0.139218	0.09083	0.0	1.16E-4	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737	T;T;T	0.28895	1.59;1.59;1.59	3.63	0.148	0.14843	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.218446	0.40385	N	0.001114	T	0.04182	0.0116	N	0.16656	0.425	0.47778	D	0.999515	B;B;B	0.15719	0.003;0.011;0.014	B;B;B	0.18263	0.001;0.006;0.021	T	0.32745	-0.9895	10	0.07175	T	0.84	.	4.9295	0.13910	0.25:0.5209:0.0:0.2291	.	52;52;52	Q9Y603-7;Q9Y603;Q9Y603-5	.;ETV7_HUMAN;.	T	52	ENSP00000342260:A52T;ENSP00000341843:A52T;ENSP00000362842:A52T	ENSP00000342260:A52T	A	-	1	0	ETV7	36451779	0.961000	0.32948	0.806000	0.32338	0.105000	0.19272	2.493000	0.45320	0.099000	0.17552	-0.998000	0.02512	GCA			0.632	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040341.1		NM_016135		T	36343801	C	T	36343801	3	4	134	1	0	0	0	0	1	0	0	0	5291	768	27	1	895	1	ETV7	6	36343801	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	4319201	36343801	134771266	14	9904											
REV3L	5980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	111714087	111714087	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acattaactaaccttggtatTtcatcttgttcccaccgaaa	12	14	4	11	1	2	0	1	0	1	0	3	1	3	0	3	1	2	2	3	1	4	7			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr6:111714087T>C	ENST00000358835.3	-	6	1108	c.654A>G	c.(652-654)gaA>gaG	p.E218E	REV3L_ENST00000435970.1_Silent_p.E140E|REV3L_ENST00000368805.1_Silent_p.E218E|REV3L_ENST00000368802.3_Silent_p.E218E			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	218					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)		ACCTTGGTATTTCATCTTGTT	0.313								DNA polymerases (catalytic subunits)																													p.E218E													.	.			0			c.A654G												67	68	68					6																	111714087		2203	4298	6501	SO:0001819	synonymous_variant	5980	exon5			TGGTATTTCATCT	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.654A>G	6.37:g.111714087T>C			174	0	0		140	0.27	38	NM_002912	1	0	0	O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	CCDS5091.2																																																																																					0.313	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043695.1		NM_002912		C	111714087	T	C	111714087	2	2	134	1	0	0	0	0	0	0	0	1	13263	1838	64	4		4	REV3L	6	111714087	Silent	SNP	T	TCGA-YU-A90Y-01A-11D-A435-10	75370286	111714087	59400980	15	9905											
TXLNB	167838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	139569008	139569008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgcttttagttagtgtGctctggaattcttcaaacct	7	18	8	8	1	3	0	1	0	2	0	4	1	3	1	1	1	3	4	1	1	4	6			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr6:139569008G>A	ENST00000358430.3	-	8	1348	c.1116C>T	c.(1114-1116)agC>agT	p.S372S	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	372						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TAGTTAGTGTGCTCTGGAATT	0.378																																					p.S372S													.	.			0			c.C1116T												159	157	158					6																	139569008		2203	4300	6503	SO:0001819	synonymous_variant	167838	exon8			TAGTGTGCTCTGG		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1116C>T	6.37:g.139569008G>A			197	0	0		143	0.22	31	NM_153235	0		0	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	CCDS34545.1																																																																																					0.378	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042458.1		NM_153235		A	139569008	G	A	139569008	2	1	134	1	0	0	0	0	0	0	0	1	16812	1310	46	2		2	TXLNB	6	139569008	Silent	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	27854921	139569008	31546059	16	9906											
UTRN	7402	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	144780096	144780096	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgggtaaaacacacttcCatttctgaatcttcccggca	11	11	8	11	1	2	1	0	1	2	0	4	2	4	1	2	2	1	2	2	2	3	4			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr6:144780096C>T	ENST00000367545.3	+	19	2475	c.2475C>T	c.(2473-2475)tcC>tcT	p.S825S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	825	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACACACTTCCATTTCTGAAT	0.443																																					p.S825S													.	UTRN	327		0			c.C2475T												56	57	57					6																	144780096		2203	4300	6503	SO:0001819	synonymous_variant	7402	exon19			CACTTCCATTTCT	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.2475C>T	6.37:g.144780096C>T			133	0.015037594	2		114	0.3	34	NM_007124	3	0	0	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1																																																																																					0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042551.1				T	144780096	C	T	144780096	2	4	134	1	0	0	0	0	0	0	0	1	17127	581	21	3		3	UTRN	6	144780096	Silent	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	5211088	144780096	26334971	17	9907											
SYNE1	23345	broad.mit.edu;mdanderson.org	37	chr6	152631005	152631005	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggatggcggtgtgctGcagccggctggcctcttcct	2	11	15	13	2	1	0	0	0	1	0	2	1	2	1	3	5	4	4	3	5	0	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr6:152631005G>A	ENST00000367255.5	-	90	17768	c.17167C>T	c.(17167-17169)Cag>Tag	p.Q5723*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q5652*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q5335*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q247*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q5723*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q5652*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5723					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)		GCGGTGTGCTGCAGCCGGCTG	0.582										HNSCC(10;0.0054)																											p.Q5723X													.	SYNE1	3227		0			c.C17167T												61	58	59					6																	152631005		2203	4300	6503	SO:0001587	stop_gained	23345	exon90			TGTGCTGCAGCCG	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.17167C>T	6.37:g.152631005G>A	ENSP00000356224:p.Gln5723*		49	0	0		46	0.09	4	NM_182961	3	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	41	8.762490	0.98943	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	.	.	.	X	5723;5652;5723;5652;5335;247	.	ENSP00000265368:Q5723X	Q	-	1	0	SYNE1	152672698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.726000	0.98782	2.871000	0.98454	0.655000	0.94253	CAG			0.582	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000334755.2		NM_182961		A	152631005	G	A	152631005	4	1	134	1	0	0	0	0	0	1	0	0	15468	1328	46	2	9527	2	SYNE1	6	152631005	Nonsense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	7850909	152631005	18484062	18	9908											
GRB10	2887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	50671755	50671755	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctggagatcctcccgTgaaaccagtgctgtgtcctg	6	10	10	15	1	0	2	0	1	0	1	4	3	4	2	6	1	2	1	6	1	1	0			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr7:50671755T>A	ENST00000401949.1	-	17	1953	c.1484A>T	c.(1483-1485)cAc>cTc	p.H495L	GRB10_ENST00000398810.2_Missense_Mutation_p.H437L|GRB10_ENST00000402497.1_Missense_Mutation_p.H437L|GRB10_ENST00000335866.3_Missense_Mutation_p.H437L|GRB10_ENST00000403097.1_Missense_Mutation_p.H489L|GRB10_ENST00000402578.1_Missense_Mutation_p.H437L|GRB10_ENST00000407526.1_Missense_Mutation_p.H437L|GRB10_ENST00000398812.2_Missense_Mutation_p.H495L|GRB10_ENST00000357271.5_Missense_Mutation_p.H449L|GRB10_ENST00000439599.1_Missense_Mutation_p.H489L|GRB10_ENST00000406641.1_Missense_Mutation_p.H437L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	495	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)					GATCCTCCCGTGAAACCAGTG	0.542									Russell-Silver syndrome																												p.H495L													.	.			0			c.A1484T												168	169	168					7																	50671755		1974	4163	6137	SO:0001583	missense	2887	exon14	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	CTCCCGTGAAACC		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.1484A>T	7.37:g.50671755T>A	ENSP00000385770:p.His495Leu		85	0	0		77	0.1	8	NM_005311	55	0.27	15	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485077	0.84854	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.36	4.17	0.49024	SH2 motif (5);	0.089996	0.85682	N	0.000000	T	0.73241	0.3562	M	0.91140	3.18	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	0.78026	-0.2365	10	0.87932	D	0	-32.6638	12.0141	0.53303	0.0:0.0:0.1448:0.8551	.	489;449;495	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	L	495;489;437;437;437;489;437;449;437;495;27;437	ENSP00000381793:H495L;ENSP00000406716:H489L;ENSP00000338543:H437L;ENSP00000381790:H437L;ENSP00000385189:H437L;ENSP00000385544:H489L;ENSP00000385366:H437L;ENSP00000349818:H449L;ENSP00000385046:H437L;ENSP00000385770:H495L;ENSP00000385748:H437L	ENSP00000338543:H437L	H	-	2	0	GRB10	50639249	1.000000	0.71417	0.429000	0.26710	0.971000	0.66376	7.677000	0.84024	0.815000	0.34398	0.533000	0.62120	CAC			0.542	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319157.1				A	50671755	T	A	50671755	3	1	134	1	0	0	0	0	1	0	0	0	6771	1696	59	5	312	5	GRB10	7	50671755	Missense_Mutation	SNP	T	TCGA-YU-A90Y-01A-11D-A435-10		50671755	108466908	19	9909											
PSIP1	11168	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	15472670	15472672	+	In_Frame_Del	DEL	CTG	CTG	-																															ctcttgcttgcgttttcgatCtgctgcttctttctcatgtt																										TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	CTG	CTG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr9:15472670_15472672delCTG	ENST00000380733.4	-	10	1278_1280	c.935_937delCAG	c.(934-939)gcagat>gat	p.A312del	PSIP1_ENST00000380715.1_In_Frame_Del_p.A312del|PSIP1_ENST00000380738.4_In_Frame_Del_p.A312del|PSIP1_ENST00000397519.2_In_Frame_Del_p.A312del|PSIP1_ENST00000380716.4_In_Frame_Del_p.A312del			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	312					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CGTTTTCGATCTGCTGCTTCTTT	0.369																																					p.312_313del													.	PSIP1	93		0			c.936_938del																																									SO:0001651	inframe_deletion	11168	exon10			TTCGATCTGCTGC	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.935_937delCAG	9.37:g.15472673_15472675delCTG	ENSP00000370109:p.Ala312del		170	0	0		201	0.21	43	NM_001128217	403	0	0	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	In_Frame_Del	DEL	ENST00000380733.4	37	CCDS6479.1																																																																																					0.369	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055445.1		NM_033222		-	15472672	CTG	-	15472670	7	5	134	1	0	1	0	1	0	0	0	0	12683	913	32	0	712	0	PSIP1	9	15472670	In_Frame_Del	DEL	CTG	TCGA-YU-A90Y-01A-11D-A435-10		15472670	125740761	20	9910											
AQP7	364	mdanderson.org	37	chr9	33385287	33385287	+	3'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccagttctccccatTgctgcaggcaagaggcagag	10	6	10	15	0	1	2	0	0	1	2	2	2	1	2	5	2	2	5	5	2	1	2	rs74557595		TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr9:33385287T>C	ENST00000537089.1	-	0	1145				AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7						excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TTCTCCCCATTGCTGCAGGCA	0.612																																					p.N249D													.	.			0			c.A745G												59	62	61					9																	33385287		2202	4298	6500	SO:0001624	3_prime_UTR_variant	364	exon8			CCCCATTGCTGCA	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.*329A>G	9.37:g.33385287T>C			13	0	0		15	0.13	2	NM_001170	2	0	0	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	c	9.798	1.179797	0.21787	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000439678	T;T;T	0.11063	2.81;2.81;2.81	4.27	3.35	0.38373	Aquaporin-like (2);	.	.	.	.	T	0.07683	0.0193	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.35301	-0.9794	8	0.39692	T	0.17	-1.4238	6.1852	0.20493	0.0:0.7595:0.0:0.2405	.	249	O14520	AQP7_HUMAN	D	248;249;157	ENSP00000368821:N248D;ENSP00000297988:N249D;ENSP00000410138:N157D	ENSP00000297988:N249D	N	-	1	0	AQP7	33375287	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.126000	0.15769	0.443000	0.26582	-0.251000	0.11542	AAT			0.612	AQP7-202	KNOWN	basic	protein_coding	protein_coding				NM_001170		C	33385287	T	C	33385287	1	2	134	0	1	0	0	0	0	0	0	0	831	1826	63	4		4	AQP7	9	33385287	3'UTR	SNP	T	TCGA-YU-A90Y-01A-11D-A435-10	17912617	33385287	107828144	21	9911											
OR13A1	79290	mdanderson.org	37	chr10	45799291	45799291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggacctcgcagaagaaatGgataatgacattggggccac	14	6	13	8	1	0	3	0	1	0	2	1	5	0	5	2	4	0	1	2	4	3	2			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr10:45799291G>T	ENST00000553795.1	-	4	888	c.580C>A	c.(580-582)Cat>Aat	p.H194N	OR13A1_ENST00000536058.1_Missense_Mutation_p.H194N|OR13A1_ENST00000374401.2_Missense_Mutation_p.H194N	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	194						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(9)|skin(2)|urinary_tract(1)	19						CAGAAGAAATGGATAATGACA	0.592																																					p.H194N													.	.			0			c.C580A												52	54	54					10																	45799291		2203	4300	6503	SO:0001583	missense	79290	exon4			AGAAATGGATAAT	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.580C>A	10.37:g.45799291G>T	ENSP00000451950:p.His194Asn		41	0	0		20	0.1	2	NM_001004297	0		0	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	g	14.66	2.602514	0.46423	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00164	8.64;8.64;8.64	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000169	T	0.00412	0.0013	M	0.78456	2.415	0.31031	N	0.717436	P	0.45902	0.868	P	0.55087	0.768	T	0.53251	-0.8465	10	0.72032	D	0.01	-56.9012	17.1748	0.86838	0.0:0.0:1.0:0.0	.	194	Q8NGR1	O13A1_HUMAN	N	194	ENSP00000451950:H194N;ENSP00000438657:H194N;ENSP00000363522:H194N	ENSP00000311379:H194N	H	-	1	0	OR13A1	45119297	0.999000	0.42202	0.780000	0.31762	0.146000	0.21551	3.564000	0.53791	2.622000	0.88805	0.650000	0.86243	CAT			0.592	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047779.2		NM_001004297		T	45799291	G	T	45799291	3	4	134	1	0	0	0	0	1	0	0	0	10950	1348	47	3	410	3	OR13A1	10	45799291	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10		45799291	89735456	22	9912											
NOC3L	64318	bcgsc.ca	37	chr10	96094473	96094473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaaaagttcagtagcaGatctaaatcacaaacacaaa	20	7	4	10	0	4	1	3	0	1	1	4	1	4	1	1	0	2	3	1	0	7	3	rs201691751		TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr10:96094473G>T	ENST00000371361.3	-	20	2292	c.2192C>A	c.(2191-2193)tCt>tAt	p.S731Y	NOC3L_ENST00000543788.1_Missense_Mutation_p.S469Y|NOC3L_ENST00000371350.1_Missense_Mutation_p.S731Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	731					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTCAGTAGCAGATCTAAATCA	0.323																																					p.S731Y													.	NOC3L	67		0			c.C2192A												115	122	119					10																	96094473		2203	4298	6501	SO:0001583	missense	64318	exon20			GTAGCAGATCTAA	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.2192C>A	10.37:g.96094473G>T	ENSP00000360412:p.Ser731Tyr		53	0	0		56	0.07	4	NM_022451	68	0	0	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355603	0.82243	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.15603	2.41;2.57;2.57	5.53	5.53	0.82687	.	0.164678	0.56097	D	0.000037	T	0.29093	0.0723	L	0.55481	1.735	0.53005	D	0.999966	P	0.36183	0.542	P	0.44477	0.451	T	0.00984	-1.1491	10	0.51188	T	0.08	-7.6433	19.808	0.96537	0.0:0.0:1.0:0.0	.	731	Q8WTT2	NOC3L_HUMAN	Y	469;731;731	ENSP00000437838:S469Y;ENSP00000360412:S731Y;ENSP00000360401:S731Y	ENSP00000360401:S731Y	S	-	2	0	NOC3L	96084463	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	8.337000	0.90036	2.762000	0.94881	0.655000	0.94253	TCT			0.323	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049466.1		NM_022451		T	96094473	G	T	96094473	3	4	134	1	0	0	0	0	1	0	0	0	10531	942	33	3	218	3	NOC3L	10	96094473	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	50295182	96094473	39440274	23	9913											
C10orf76	79591	mdanderson.org	37	chr10	103769735	103769735	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaatgtcaggcacttactGtactgagattttctcatggg	11	13	10	7	0	2	2	2	1	1	2	3	3	2	2	0	2	2	2	0	2	4	4			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr10:103769735G>T	ENST00000370033.4	-	12	996	c.877C>A	c.(877-879)Caa>Aaa	p.Q293K		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	293						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)		GGCACTTACTGTACTGAGATT	0.453																																					p.Q293K													.	.			0			c.C877A												119	122	121					10																	103769735		1959	4174	6133	SO:0001630	splice_region_variant	79591	exon12			CTTACTGTACTGA	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.878+1C>A	10.37:g.103769735G>T			66	0.0151515152	1		50	0.06	3	NM_024541	17	0.06	1	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337926	0.24253	.	.	ENSG00000120029	ENST00000370033	T	0.66638	-0.22	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	N	0.24115	0.695	0.80722	D	1	B	0.13594	0.008	B	0.14578	0.011	T	0.51896	-0.8647	10	0.02654	T	1	-9.003	19.5603	0.95369	0.0:0.0:1.0:0.0	.	293	Q5T2E6	CJ076_HUMAN	K	293	ENSP00000359050:Q293K	ENSP00000359050:Q293K	Q	-	1	0	C10orf76	103759725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.350000	0.90069	2.611000	0.88343	0.563000	0.77884	CAA			0.453	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050007.1		NM_024541	Missense_Mutation	T	103769735	G	T	103769735	5	4	134	1	0	0	0	0	0	0	1	0	1618	1391	48	3	1252	3	C10orf76	10	103769735	Splice_Site	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	7675262	103769735	31765012	24	9914											
CDHR5	53841	broad.mit.edu	37	chr11	621227	621227	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggtggcagtgtggctgggTtccacattctcccccggagt	4	10	15	12	2	1	0	0	0	1	0	3	1	2	1	3	5	0	3	3	5	0	2			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr11:621227T>G	ENST00000358353.3	-	8	964	c.642A>C	c.(640-642)gaA>gaC	p.E214D	CDHR5_ENST00000349570.7_Missense_Mutation_p.E214D|CDHR5_ENST00000397542.2_Missense_Mutation_p.E214D|CDHR5_ENST00000529337.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TGTGGCTGGGTTCCACATTCT	0.672																																					p.E214D													.	CDHR5	77		0			c.A642C												58	60	59					11																	621227		2203	4299	6502	SO:0001583	missense	53841	exon7			GCTGGGTTCCACA	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.642A>C	11.37:g.621227T>G	ENSP00000351118:p.Glu214Asp		100	0.09	9		87	0.13	11	NM_021924	7	0	0	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.03|10.03	1.239625|1.239625	0.22711|0.22711	.|.	.|.	ENSG00000099834|ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570|ENST00000526077	T;T;T|T	0.37915|0.48201	1.17;1.17;1.17|0.82	4.08|4.08	-0.241|-0.241	0.13043|0.13043	Cadherin (3);Cadherin-like (1);|.	4.110590|.	0.00899|.	N|.	0.002325|.	T|T	0.36799|0.36799	0.0980|0.0980	L|L	0.37630|0.37630	1.12|1.12	0.19300|0.19300	N|N	0.999978|0.999978	B;P;B;P;P|.	0.42248|.	0.103;0.774;0.372;0.628;0.628|.	B;B;B;B;B|.	0.39299|.	0.039;0.296;0.083;0.121;0.254|.	T|T	0.38436|0.38436	-0.9661|-0.9661	10|7	0.13853|0.87932	T|D	0.58|0	0.0377|0.0377	3.1544|3.1544	0.06499|0.06499	0.3649:0.4226:0.0:0.2125|0.3649:0.4226:0.0:0.2125	.|.	214;214;207;214;214|.	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8|.	.;.;.;.;CDHR5_HUMAN|.	D|P	214|188	ENSP00000380676:E214D;ENSP00000351118:E214D;ENSP00000345726:E214D|ENSP00000435082:T188P	ENSP00000326527:E214D|ENSP00000435082:T188P	E|T	-|-	3|1	2|0	CDHR5|CDHR5	611227|611227	0.000000|0.000000	0.05858|0.05858	0.203000|0.203000	0.23512|0.23512	0.173000|0.173000	0.22820|0.22820	-1.475000|-1.475000	0.02335|0.02335	0.002000|0.002000	0.14630|0.14630	-0.232000|-0.232000	0.12228|0.12228	GAA|ACC			0.672	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255023.2		NM_021924		G	621227	T	G	621227	3	3	134	1	0	0	0	0	1	0	0	0	3124	1722	60	4	1931	4	CDHR5	11	621227	Missense_Mutation	SNP	T	TCGA-YU-A90Y-01A-11D-A435-10		621227	134385289	25	9915											
RAB3IL1	5866	ucsc.edu;bcgsc.ca	37	chr11	61675532	61675532	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcacccaccttctgCgctctgtgcagctcctcctt	4	11	8	18	1	2	0	0	0	2	0	4	0	4	0	4	1	4	5	4	1	0	2			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr11:61675532C>T	ENST00000394836.2	-	2	415	c.258G>A	c.(256-258)gcG>gcA	p.A86A	RAB3IL1_ENST00000301773.5_Silent_p.A133A	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	86					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CCACCTTCTGCGCTCTGTGCA	0.642																																					p.A133A													RAB3IL1,NS,carcinoma,-1,1	RAB3IL1	39	1	0			c.G399A												36	40	39					11																	61675532		2202	4298	6500	SO:0001819	synonymous_variant	5866	exon2			CTTCTGCGCTCTG	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.258G>A	11.37:g.61675532C>T			38	0	0		30	0.13	4	NM_001271686	24	0	0	Q86V32|Q9P1Q8	Silent	SNP	ENST00000394836.2	37	CCDS8014.1																																																																																					0.642	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394917.1		NM_013401		T	61675532	C	T	61675532	2	4	134	1	0	0	0	0	0	0	0	1	12960	755	27	1		1	RAB3IL1	11	61675532	Silent	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	61054305	61675532	73330984	26	9916											
ANKRD13D	338692	mdanderson.org	37	chr11	67066580	67066580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagatggaaactgttagCggctacgaggccaaggcagg	13	5	16	7	2	0	2	0	0	0	2	0	5	0	3	1	5	3	3	1	5	5	2			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr11:67066580C>T	ENST00000447274.2	+	7	1697	c.522C>T	c.(520-522)agC>agT	p.S174S	ANKRD13D_ENST00000514166.1_Silent_p.S174S|ANKRD13D_ENST00000308440.6_Silent_p.S174S|ANKRD13D_ENST00000511455.2_Silent_p.S261S|ANKRD13D_ENST00000515828.1_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	174						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)			AAACTGTTAGCGGCTACGAGG	0.587																																					p.S261S													.	.			0			c.C783T												123	118	120					11																	67066580		2200	4295	6495	SO:0001819	synonymous_variant	338692	exon7			TGTTAGCGGCTAC	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.522C>T	11.37:g.67066580C>T			66	0	0		50	0.06	3	NM_207354	52	0	0	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	ENST00000447274.2	37																																																																																						0.587	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000371067.2		NM_207354		T	67066580	C	T	67066580	2	4	134	1	0	0	0	0	0	0	0	1	644	767	27	1		1	ANKRD13D	11	67066580	Silent	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	5391048	67066580	67939936	27	9917											
HEPHL1	341208	mdanderson.org	37	chr11	93836181	93836181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actattcaacagtaaactttGtgaaggtaaggtggagaaag	16	10	11	4	0	1	2	1	1	0	1	1	3	1	2	0	3	2	2	0	3	7	5			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr11:93836181G>T	ENST00000315765.9	+	15	2685	c.2677G>T	c.(2677-2679)Gtg>Ttg	p.V893L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	893	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGTAAACTTTGTGAAGGTAAG	0.378																																					p.V893L													HEPHL1,NS,carcinoma,-1,1	HEPHL1	-1	1	0			c.G2677T												61	58	59					11																	93836181		1822	4070	5892	SO:0001583	missense	341208	exon15			AACTTTGTGAAGG	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2677G>T	11.37:g.93836181G>T	ENSP00000313699:p.Val893Leu		77	0	0		53	0.06	3	NM_001098672	0		0	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783763	0.49891	.	.	ENSG00000181333	ENST00000315765	D	0.98876	-5.2	5.16	1.79	0.24919	Cupredoxin (2);	0.244638	0.42294	D	0.000723	D	0.97660	0.9233	M	0.80422	2.495	0.32336	N	0.560459	B	0.27656	0.184	B	0.34931	0.192	D	0.98083	1.0405	10	0.40728	T	0.16	-19.1856	9.9419	0.41585	0.3022:0.0:0.6978:0.0	.	893	Q6MZM0	HPHL1_HUMAN	L	893	ENSP00000313699:V893L	ENSP00000313699:V893L	V	+	1	0	HEPHL1	93475829	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.380000	0.44327	0.578000	0.29487	0.650000	0.86243	GTG			0.378	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396103.2		XM_291947		T	93836181	G	T	93836181	3	4	134	1	0	0	0	0	1	0	0	0	7070	1377	48	3	2735	3	HEPHL1	11	93836181	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	26769601	93836181	41170335	28	9918											
ATM	472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	108139142	108139142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttttatttttaggtgccAttaatcctttagctgaagaa	10	18	7	6	0	0	2	0	1	0	1	1	2	1	2	2	1	2	2	2	1	6	9			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr11:108139142A>G	ENST00000452508.2	+	19	2833	c.2644A>G	c.(2644-2646)Att>Gtt	p.I882V	ATM_ENST00000278616.4_Missense_Mutation_p.I882V|AP001925.1_ENST00000596081.1_5'Flank			Q13315	ATM_HUMAN	ATM serine/threonine kinase	882					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)	TTTAGGTGCCATTAATCCTTT	0.348			"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)																											p.I882V			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	.	.			0			c.A2644G												140	148	145					11																	108139142		2201	4298	6499	SO:0001583	missense	472	exon18	Familial Cancer Database	AT, Louis-Bar syndrome	GGTGCCATTAATC	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.2644A>G	11.37:g.108139142A>G	ENSP00000388058:p.Ile882Val		72	0	0		87	0.3	26	NM_000051	3	0.33	1	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	2.017	-0.425769	0.04701	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.70164	-0.46;-0.46;-0.46	5.96	3.47	0.39725	Armadillo-type fold (1);	0.539938	0.23736	N	0.045069	T	0.42314	0.1197	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20107	-1.0285	10	0.07175	T	0.84	.	2.8206	0.05470	0.4584:0.0:0.2493:0.2923	.	882	Q13315	ATM_HUMAN	V	882	ENSP00000435747:I882V;ENSP00000278616:I882V;ENSP00000388058:I882V	ENSP00000278616:I882V	I	+	1	0	ATM	107644352	0.995000	0.38212	0.945000	0.38365	0.945000	0.59286	1.094000	0.30951	1.035000	0.39972	0.533000	0.62120	ATT			0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389938.1		NM_000051		G	108139142	A	G	108139142	3	3	134	1	0	0	0	0	1	0	0	0	1109	217	8	4	2710	4	ATM	11	108139142	Missense_Mutation	SNP	A	TCGA-YU-A90Y-01A-11D-A435-10	14302961	108139142	26867374	29	9919											
CHD4	1108	hgsc.bcm.edu	37	chr12	6711150	6711150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatcatcatcatcctcCtcctcctcctcctccttccg	6	13	2	20	1	4	0	4	0	0	0	12	1	12	0	8	0	0	0	8	0	1	1	rs150832622	byFrequency	TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr12:6711150C>A	ENST00000357008.2	-	4	577	c.414G>T	c.(412-414)gaG>gaT	p.E138D	CHD4_ENST00000544040.1_Missense_Mutation_p.E131D|CHD4_ENST00000544484.1_Missense_Mutation_p.E135D|CHD4_ENST00000309577.6_Missense_Mutation_p.E138D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	138	Poly-Glu.				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						CATCAtcctcctcctcctcct	0.458													.|||	6	0.00119808	0.0023	0.0043	5008	,	,		21622	0		0	False		,,,				2504	0				p.E138D	Colon(32;586 792 4568 16848 45314)												.	.			0			c.G414T												36	38	37					12																	6711150		2188	4279	6467	SO:0001583	missense	1108	exon4			ATCCTCCTCCTCC	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.414G>T	12.37:g.6711150C>A	ENSP00000349508:p.Glu138Asp		33	0	0		95	0.04	4	NM_001273	104	0	0	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	4	0.0018315018315018315	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	0	0.0	C	1.250	-0.618946	0.03663	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90324	-2.64;-2.65;-2.65;-2.65;0.9	5.64	0.387	0.16259	.	0.062426	0.64402	D	0.000007	T	0.65903	0.2736	N	0.03983	-0.305	0.41034	D	0.985179	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.52668	-0.8545	10	0.19590	T	0.45	.	5.795	0.18381	0.0:0.5151:0.1262:0.3587	.	138;138;131	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	D	135;131;138;138;112;138	ENSP00000440392:E135D;ENSP00000440542:E131D;ENSP00000312419:E138D;ENSP00000349508:E138D;ENSP00000437506:E138D	ENSP00000312419:E138D	E	-	3	2	CHD4	6581411	0.727000	0.28069	0.982000	0.44146	0.111000	0.19643	-0.175000	0.09825	0.062000	0.16340	-0.237000	0.12165	GAG	0.002		0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001273		A	6711150	C	A	6711150	3	1	134	1	0	0	0	0	1	0	0	0	3329	680	24	3	5472	3	CHD4	12	6711150	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10		6711150	127140745	30	9920											
KRT3	3850	hgsc.bcm.edu	37	chr12	53183951	53183951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagatggagccaaagcCgctgccaccgctgaaaccgc	11	3	12	15	3	0	2	0	1	0	1	0	4	0	3	6	1	4	2	6	1	2	0	rs570613061|rs60125653	byFrequency	TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr12:53183951C>T	ENST00000417996.2	-	9	1836	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	KRT3_ENST00000309505.3_Missense_Mutation_p.G589S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	588	Gly-rich.|Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCAAAgccgctgccaccg	0.697																																					p.G588S													KRT3,rectum,carcinoma,0,1	KRT3	0	1	0			c.G1762A												14	31	25					12																	53183951		1574	3123	4697	SO:0001583	missense	3850	exon9			CAAAGCCGCTGCC		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1762G>A	12.37:g.53183951C>T	ENSP00000413479:p.Gly588Ser		20	0	0		25	0.24	6	NM_057088	0		0	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307617	0.40795	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91351	-2.83;-2.83	3.4	-1.34	0.09143	.	0.507655	0.14827	N	0.296110	T	0.80149	0.4570	N	0.22421	0.69	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.65302	-0.6201	10	0.34782	T	0.22	.	7.4497	0.27231	0.0:0.4872:0.0:0.5128	.	588	P12035	K2C3_HUMAN	S	588;589	ENSP00000413479:G588S;ENSP00000312206:G589S	ENSP00000312206:G589S	G	-	1	0	KRT3	51470218	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.682000	0.01935	-0.284000	0.09102	-0.258000	0.10820	GGC			0.697	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405930.1		NM_057088		T	53183951	C	T	53183951	3	4	134	1	0	0	0	0	1	0	0	0	8481	652	23	1	128	1	KRT3	12	53183951	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	46472801	53183951	80667944	31	9921											
ITGB7	3695	mdanderson.org	37	chr12	53586314	53586314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaaggccccacactctGcacagtccctgtgtagtaga	9	9	9	14	0	1	2	0	1	1	1	3	2	3	2	4	1	1	3	4	1	3	2			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr12:53586314G>T	ENST00000267082.5	-	14	2186	c.1955C>A	c.(1954-1956)gCa>gAa	p.A652E	ITGB7_ENST00000550743.2_Missense_Mutation_p.A504E|ITGB7_ENST00000422257.3_Missense_Mutation_p.A652E|ITGB7_ENST00000338737.4_Missense_Mutation_p.A504E	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	652					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						CCCACACTCTGCACAGTCCCT	0.567																																					p.A652E													.	.			0			c.C1955A												68	63	65					12																	53586314		2203	4300	6503	SO:0001583	missense	3695	exon14			CACTCTGCACAGT		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.1955C>A	12.37:g.53586314G>T	ENSP00000267082:p.Ala652Glu		47	0	0		40	0.08	3	NM_000889	57	0	0	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.152164|6.152164	0.97329|0.97329	.|.	.|.	ENSG00000139626|ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737|ENST00000542497	D;D;D|.	0.91011|.	-1.82;-1.82;-2.77|.	4.3|4.3	4.3|4.3	0.51218|0.51218	Integrin beta subunit, tail (1);|.	0.000000|.	0.40385|.	N|.	0.001118|.	T|.	0.63768|.	0.2539|.	M|M	0.78801|0.78801	2.425|2.425	0.22457|0.22457	N|N	0.999081|0.999081	D|.	0.76494|.	0.999|.	D|.	0.64144|.	0.922|.	T|.	0.57505|.	-0.7800|.	9|.	.|.	.|.	.|.	.|.	16.1027|16.1027	0.81194|0.81194	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	652|.	P26010|.	ITB7_HUMAN|.	E|X	652;652;504|439	ENSP00000408741:A652E;ENSP00000267082:A652E;ENSP00000345501:A504E|.	.|.	A|C	-|-	2|3	0|2	ITGB7|ITGB7	51872581|51872581	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	3.667000|3.667000	0.54547|0.54547	2.420000|2.420000	0.82092|0.82092	0.561000|0.561000	0.74099|0.74099	GCA|TGC			0.567	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405821.2				T	53586314	G	T	53586314	3	4	134	1	0	0	0	0	1	0	0	0	7915	1319	46	2	453	2	ITGB7	12	53586314	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	402363	53586314	80265581	32	9922											
TAOK3	51347	broad.mit.edu;mdanderson.org	37	chr12	118682740	118682740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataggacatcttcttaattgCcaccacctcactggtgtgag	10	12	8	11	0	3	1	1	1	2	0	3	2	3	2	3	2	1	0	3	2	2	4			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr12:118682740C>T	ENST00000392533.3	-	4	641	c.151G>A	c.(151-153)Gca>Aca	p.A51T	TAOK3_ENST00000419821.2_Missense_Mutation_p.A51T	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTTAATTGCCACCACCTCA	0.358																																					p.A51T													.	TAOK3	151		0			c.G151A												157	148	151					12																	118682740		2203	4300	6503	SO:0001583	missense	51347	exon4			TAATTGCCACCAC	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.151G>A	12.37:g.118682740C>T	ENSP00000376317:p.Ala51Thr		59	0	0		62	0.06	4	NM_016281	13	0	0	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440983	0.96168	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902	T;T;T;T;T;T	0.73681	0.01;0.01;0.01;0.01;-0.77;-0.77	5.14	5.14	0.70334	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	0.89125	0.6626	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91056	0.4882	10	0.87932	D	0	.	18.8034	0.92027	0.0:1.0:0.0:0.0	.	51	Q9H2K8	TAOK3_HUMAN	T	51	ENSP00000416374:A51T;ENSP00000376317:A51T;ENSP00000443465:A51T;ENSP00000438820:A51T;ENSP00000444057:A51T;ENSP00000440315:A51T	ENSP00000376317:A51T	A	-	1	0	TAOK3	117167123	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.507000	0.81676	2.665000	0.90641	0.591000	0.81541	GCA			0.358	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401456.2		NM_016281		T	118682740	C	T	118682740	3	4	134	1	0	0	0	0	1	0	0	0	15572	739	26	2	2617	2	TAOK3	12	118682740	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	65096426	118682740	15169155	33	9923											
C14orf73	91828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr14	103568544	103568544	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacgctgctggtggccGagaaggcctcgcgcaccttt	6	8	15	12	4	0	2	0	0	0	2	1	4	0	2	3	4	1	3	3	4	1	1	rs373034943		TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr14:103568544G>T	ENST00000380069.3	+	2	560	c.484G>T	c.(484-486)Gag>Tag	p.E162*		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	162					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCTGGTGGCCGAGAAGGCCTC	0.657																																					p.E162X													.	.			0			c.G484T												13	14	13					14																	103568544		2198	4292	6490	SO:0001587	stop_gained	91828	exon2			GTGGCCGAGAAGG	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.484G>T	14.37:g.103568544G>T	ENSP00000369409:p.Glu162*		62	0	0		70	0.34	24	NM_001077594	5	0	0	Q14CR2	Nonsense_Mutation	SNP	ENST00000380069.3	37	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530076	0.64860	.	.	ENSG00000205436	ENST00000380069	.	.	.	4.11	3.22	0.36961	.	0.287593	0.26692	N	0.022983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-5.4548	5.6576	0.17650	0.1089:0.2001:0.691:0.0	.	.	.	.	X	162	.	ENSP00000369409:E162X	E	+	1	0	EXOC3L4	102638297	0.070000	0.21116	0.001000	0.08648	0.200000	0.23975	2.372000	0.44257	0.934000	0.37316	0.555000	0.69702	GAG			0.657	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415663.1		XM_941093		T	103568544	G	T	103568544	4	4	134	1	0	0	0	0	0	1	0	0	1781	1059	37	1	490	1	C14orf73	14	103568544	Nonsense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10		103568544	3780996	34	9924											
CYFIP1	23191	broad.mit.edu;mdanderson.org	37	chr15	22954288	22954288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgccatccggcacaccGtctatgccgcactgcaggac	9	5	9	18	4	1	0	0	0	1	0	2	1	2	1	5	2	2	3	5	2	1	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr15:22954288G>T	ENST00000313077.7	+	14	1563	c.1438G>T	c.(1438-1440)Gtc>Ttc	p.V480F	CYFIP1_ENST00000435939.2_5'Flank|CYFIP1_ENST00000560848.1_Missense_Mutation_p.V480F	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCGGCACACCGTCTATGCCGC	0.607																																					p.V480F													.	CYFIP1	159		0			c.G1438T												81	69	73					15																	22954288		2203	4300	6503	SO:0001583	missense	23191	exon14			CACACCGTCTATG	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	ENST00000313077.7:c.1438G>T	15.37:g.22954288G>T	ENSP00000324549:p.Val480Phe		115	0	0		92	0.04	4	NM_014608	66	0	0		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360001	0.82353	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.25749	1.78	5.71	2.47	0.30058	.	0.157513	0.42548	D	0.000690	T	0.28863	0.0716	M	0.68952	2.095	0.80722	D	1	P;P	0.47841	0.901;0.653	B;P	0.46510	0.445;0.519	T	0.05099	-1.0906	10	0.87932	D	0	-28.1692	5.2793	0.15666	0.5117:0.0:0.4883:0.0	.	508;480	E7EQ04;Q7L576	.;CYFP1_HUMAN	F	480;508	ENSP00000324549:V480F	ENSP00000324549:V480F	V	+	1	0	CYFIP1	20505729	1.000000	0.71417	0.724000	0.30704	0.971000	0.66376	4.553000	0.60753	0.766000	0.33244	0.563000	0.77884	GTC			0.607	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251136.2		NM_014608		T	22954288	G	T	22954288	3	4	134	1	0	0	0	0	1	0	0	0	4139	1145	40	1	1488	1	CYFIP1	15	22954288	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10		22954288	79577104	35	9925											
FMN1	342184	mdanderson.org	37	chr15	33261197	33261197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggcggaggtggtagcGgtggcccagcactcacaggt	8	5	19	9	2	1	0	1	0	0	0	1	3	1	2	1	8	2	2	1	8	1	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr15:33261197G>T	ENST00000559047.1	-	5	2704	c.2705C>A	c.(2704-2706)cCg>cAg	p.P902Q	FMN1_ENST00000561249.1_Missense_Mutation_p.P804Q|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Missense_Mutation_p.P679Q			Q68DA7	FMN1_HUMAN	formin 1	902	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		aggtggtagcggtggCCCAGC	0.672																																					p.P679Q													.	.			0			c.C2036A												13	13	13					15																	33261197		1996	4138	6134	SO:0001583	missense	342184	exon4			GGTAGCGGTGGCC	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2705C>A	15.37:g.33261197G>T	ENSP00000454047:p.Pro902Gln		38	0	0		27	0.07	2	NM_001103184	1	0	0	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	G	5.578	0.291442	0.10567	.	.	ENSG00000248905	ENST00000334528	T	0.52057	0.68	3.89	3.89	0.44902	.	0.147956	0.44285	D	0.000471	T	0.54935	0.1889	L	0.29908	0.895	.	.	.	D	0.76494	0.999	D	0.68943	0.961	T	0.64892	-0.6300	9	0.51188	T	0.08	.	14.9997	0.71462	0.0:0.0:1.0:0.0	.	679	Q68DA7-5	.	Q	679	ENSP00000333950:P679Q	ENSP00000333950:P679Q	P	-	2	0	FMN1	31048489	0.162000	0.22906	0.143000	0.22291	0.248000	0.25809	1.111000	0.31159	1.990000	0.58119	0.484000	0.47621	CCG			0.672	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000417414.1		NM_001103184		T	33261197	G	T	33261197	3	4	134	1	0	0	0	0	1	0	0	0	5962	1116	39	1	1610	1	FMN1	15	33261197	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	10306909	33261197	69270195	36	9926											
VPS13C	54832	mdanderson.org	37	chr15	62276086	62276086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcaggactatcctccGgattggtttcaaatttaatt	10	14	9	8	1	2	0	2	0	0	0	4	2	4	2	2	4	1	2	2	4	3	6			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr15:62276086G>T	ENST00000261517.5	-	20	1920	c.1847C>A	c.(1846-1848)cCg>cAg	p.P616Q	VPS13C_ENST00000249837.3_Missense_Mutation_p.P573Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.P573Q|VPS13C_ENST00000395896.4_Missense_Mutation_p.P616Q	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						ACTATCCTCCGGATTGGTTTC	0.408																																					p.P616Q													.	.			0			c.C1847A												80	75	77					15																	62276086		2203	4300	6503	SO:0001583	missense	54832	exon20			TCCTCCGGATTGG	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.1847C>A	15.37:g.62276086G>T	ENSP00000261517:p.Pro616Gln		84	0	0		59	0.05	3	NM_020821	2	0	0		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437507	0.83885	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.53640	0.61;0.61;0.61	5.9	5.9	0.94986	.	0.122706	0.56097	D	0.000030	T	0.74543	0.3730	M	0.84683	2.71	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;0.999	T	0.77199	-0.2675	10	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	573;616;573;616	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Q	573;616;616;616	ENSP00000249837:P573Q;ENSP00000261517:P616Q;ENSP00000379233:P616Q	ENSP00000249837:P573Q	P	-	2	0	VPS13C	60063378	1.000000	0.71417	0.999000	0.59377	0.493000	0.33554	9.205000	0.95048	2.788000	0.95919	0.650000	0.86243	CCG			0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000415997.1		NM_017684		T	62276086	G	T	62276086	3	4	134	1	0	0	0	0	1	0	0	0	17215	1116	39	1	9706	1	VPS13C	15	62276086	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	29014889	62276086	40255306	37	9927											
SOX8	30812	mdanderson.org	37	chr16	1032207	1032207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcggcggcggcggcgcGctcaaagccaagccgcatgt	6	3	17	15	9	1	0	1	0	0	0	1	0	1	0	2	5	2	2	2	5	2	0			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr16:1032207G>A	ENST00000293894.3	+	1	400	c.285G>A	c.(283-285)gcG>gcA	p.A95A	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	95					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				gcggcggcgcgcTCAAAGCCA	0.706																																					p.A95A													.	.			0			c.G285A												4	5	4					16																	1032207		2006	4002	6008	SO:0001819	synonymous_variant	30812	exon1			CGGCGCGCTCAAA	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.285G>A	16.37:g.1032207G>A			9	0	0		13	0.15	2	NM_014587	4	0	0	Q9NZW2	Silent	SNP	ENST00000293894.3	37	CCDS10428.1																																																																																					0.706	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000242867.1				A	1032207	G	A	1032207	2	1	134	1	0	0	0	0	0	0	0	1	14980	1074	38	1		1	SOX8	16	1032207	Silent	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10		1032207	89322546	38	9928											
PPL	5493	mdanderson.org	37	chr16	4945266	4945266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggccccacgcacctgcTccccctcaaagtcacagagt	9	6	8	18	1	2	1	2	0	0	1	3	1	3	1	5	1	2	3	5	1	1	0			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr16:4945266T>C	ENST00000345988.2	-	11	1327	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	PPL_ENST00000590782.2_Missense_Mutation_p.E411G	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	413					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						ACGCACCTGCTCCCCCTCAAA	0.627																																					p.E413G													.	.			0			c.A1238G												45	41	42					16																	4945266		2197	4300	6497	SO:0001583	missense	5493	exon11			ACCTGCTCCCCCT	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.1238A>G	16.37:g.4945266T>C	ENSP00000340510:p.Glu413Gly		57	0	0		48	0.06	3	NM_002705	13	0	0	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	T	3.648	-0.072034	0.07228	.	.	ENSG00000118898	ENST00000345988	T	0.69561	-0.41	4.57	4.57	0.56435	.	0.193201	0.45126	D	0.000385	T	0.52240	0.1722	L	0.31664	0.95	0.38769	D	0.954497	B	0.31383	0.321	B	0.26770	0.073	T	0.54886	-0.8226	10	0.27785	T	0.31	.	14.0801	0.64914	0.0:0.0:0.0:1.0	.	413	O60437	PEPL_HUMAN	G	413	ENSP00000340510:E413G	ENSP00000340510:E413G	E	-	2	0	PPL	4885267	1.000000	0.71417	0.972000	0.41901	0.342000	0.28953	5.567000	0.67378	1.921000	0.55644	0.459000	0.35465	GAG			0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251715.1		NM_002705		C	4945266	T	C	4945266	3	2	134	1	0	0	0	0	1	0	0	0	12354	1551	54	4	4080	4	PPL	16	4945266	Missense_Mutation	SNP	T	TCGA-YU-A90Y-01A-11D-A435-10	3913059	4945266	85409487	39	9929											
NOD2	64127	mdanderson.org	37	chr16	50741855	50741855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaattaccagtcccattGgccctgcctttggaaggtag	9	10	11	11	0	0	0	0	0	0	0	1	2	1	2	4	4	2	1	4	4	4	4			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr16:50741855G>T	ENST00000300589.2	+	3	735	c.630G>T	c.(628-630)ttG>ttT	p.L210F	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	210	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)				CAGTCCCATTGGCCCTGCCTT	0.488																																					p.L210F													.	.			0			c.G630T												144	114	124					16																	50741855		2198	4300	6498	SO:0001583	missense	64127	exon3			CCCATTGGCCCTG	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.630G>T	16.37:g.50741855G>T	ENSP00000300589:p.Leu210Phe		112	0	0		92	0.04	4	NM_022162	3	0	0	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463791	0.12402	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.21361	2.01	4.71	-1.23	0.09465	DEATH-like (2);Caspase Recruitment (1);	1.881580	0.03033	N	0.152318	T	0.21801	0.0525	L	0.44542	1.39	0.09310	N	1	P	0.46784	0.884	P	0.49887	0.625	T	0.28299	-1.0048	10	0.09843	T	0.71	.	4.0751	0.09901	0.3027:0.3404:0.3568:0.0	.	210	Q9HC29	NOD2_HUMAN	F	183;210	ENSP00000300589:L210F	ENSP00000300589:L210F	L	+	3	2	NOD2	49299356	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.649000	0.05384	0.150000	0.19136	-0.142000	0.14014	TTG			0.488	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256876.2		NM_022162		T	50741855	G	T	50741855	3	4	134	1	0	0	0	0	1	0	0	0	10534	1339	47	3	640	3	NOD2	16	50741855	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	45796589	50741855	39612898	40	9930											
RRAD	6236	mdanderson.org	37	chr16	66958768	66958768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaagatgcgcgccagggcGctcttgcccacgccgggcgc	5	4	15	17	7	1	1	0	0	1	1	1	2	1	1	4	2	2	1	4	2	1	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr16:66958768G>T	ENST00000299759.6	-	2	565	c.315C>A	c.(313-315)agC>agA	p.S105R	RRAD_ENST00000420652.1_Missense_Mutation_p.S105R			P55042	RAD_HUMAN	Ras-related associated with diabetes	105					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCGCCAGGGCGCTCTTGCCCA	0.701																																					p.S105R													.	.			0			c.C315A												14	16	15					16																	66958768		2194	4296	6490	SO:0001583	missense	6236	exon2			CAGGGCGCTCTTG	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.315C>A	16.37:g.66958768G>T	ENSP00000299759:p.Ser105Arg		15	0	0		14	0.14	2	NM_004165	140	0	0	Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212335	0.79240	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	D;D	0.86497	-2.13;-2.13	4.24	1.19	0.21007	Small GTP-binding protein domain (1);	0.229124	0.45126	D	0.000393	D	0.94627	0.8268	H	0.98646	4.29	0.58432	D	0.999999	D	0.76494	0.999	D	0.64042	0.921	D	0.92554	0.6052	10	0.87932	D	0	.	7.9392	0.29948	0.3233:0.0:0.6767:0.0	.	105	P55042	RAD_HUMAN	R	105	ENSP00000388744:S105R;ENSP00000299759:S105R	ENSP00000299759:S105R	S	-	3	2	RRAD	65516269	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.151000	0.50670	0.102000	0.17638	0.655000	0.94253	AGC			0.701	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268830.1		NM_004165		T	66958768	G	T	66958768	3	4	134	1	0	0	0	0	1	0	0	0	13694	1078	38	1	627	1	RRAD	16	66958768	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	16216913	66958768	23395985	41	9931											
CCDC43	124808	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	42759494	42759494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcaattagggtggcaatgGcctgtacttcatctgggagg	8	12	13	8	0	3	0	2	0	2	0	4	1	3	1	1	5	1	2	1	5	4	3			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr17:42759494G>C	ENST00000315286.8	-	3	313	c.305C>G	c.(304-306)gCc>gGc	p.A102G	C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.A102G|CCDC43_ENST00000457422.2_Missense_Mutation_p.A102G	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	102										lung(2)	2		Prostate(33;0.0322)				GGTGGCAATGGCCTGTACTTC	0.493																																					p.A102G													.	.			0			c.C305G												140	130	134					17																	42759494		2031	4202	6233	SO:0001583	missense	124808	exon3			GCAATGGCCTGTA	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.305C>G	17.37:g.42759494G>C	ENSP00000323782:p.Ala102Gly		157	0	0		172	0.05	8	NM_001099225	55	0.02	1	C9JVK9	Missense_Mutation	SNP	ENST00000315286.8	37	CCDS45704.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092579	0.94149	.	.	ENSG00000180329	ENST00000315286;ENST00000457422	.	.	.	6.06	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.81497	2.545	0.80722	D	1	D;P	0.59767	0.986;0.933	P;P	0.55713	0.782;0.542	T	0.75986	-0.3124	9	0.45353	T	0.12	-8.7765	15.4476	0.75243	0.068:0.0:0.932:0.0	.	102;102	Q96MW1-2;Q96MW1	.;CCD43_HUMAN	G	102	.	ENSP00000323782:A102G	A	-	2	0	CCDC43	40115020	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.074000	0.76791	2.871000	0.98454	0.655000	0.94253	GCC			0.493	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000457812.1		NM_144609		C	42759494	G	C	42759494	3	2	134	1	0	0	0	0	1	0	0	0	2817	1203	42	5	381	5	CCDC43	17	42759494	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10		42759494	38435716	42	9932											
ZFR2	23217	mdanderson.org	37	chr19	3831689	3831689	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggtggggttgtaggaGggcggggggtaggaggtcac	6	7	24	4	1	1	0	1	0	0	0	1	2	1	2	0	10	1	4	0	10	2	3			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:3831689G>T	ENST00000262961.4	-	4	577	c.567C>A	c.(565-567)ccC>ccA	p.P189P	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	189	Pro-rich.						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)		GGTTGTAGGAGGGCGGGGGGT	0.637																																					p.P189P													.	.			0			c.C567A												18	21	20					19																	3831689		2100	4213	6313	SO:0001819	synonymous_variant	23217	exon4			GTAGGAGGGCGGG	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.567C>A	19.37:g.3831689G>T			36	0	0		26	0.12	3	NM_015174	0		0		Silent	SNP	ENST00000262961.4	37	CCDS45921.1																																																																																					0.637	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453648.2		NM_015174		T	3831689	G	T	3831689	2	4	134	1	0	0	0	0	0	0	0	1	17683	987	35	3		3	ZFR2	19	3831689	Silent	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10		3831689	55297294	43	9933											
PRR22	163154	mdanderson.org	37	chr19	5783886	5783886	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtatggaggcagccccggGgccttgaggtagggctgagg	6	6	21	8	1	0	2	0	2	0	0	0	3	0	3	3	8	1	4	3	8	2	3			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:5783886G>T	ENST00000419421.2	-	3	476	c.372C>A	c.(370-372)gcC>gcA	p.A124A		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	124	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GCAGCCCCGGGGCCTTGAGGT	0.706																																					p.A124A													.	.			0			c.C372A												4	5	5					19																	5783886		1986	4024	6010	SO:0001819	synonymous_variant	163154	exon3			CCCCGGGGCCTTG	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.372C>A	19.37:g.5783886G>T			29	0	0		36	0.08	3	NM_001134316	35	0	0	E9PB31	Silent	SNP	ENST00000419421.2	37	CCDS45933.1																																																																																					0.706	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368523.1		NM_153359		T	5783886	G	T	5783886	2	4	134	1	0	0	0	0	0	0	0	1	12613	1219	43	3		3	PRR22	19	5783886	Silent	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	1952197	5783886	53345097	44	9934											
PRKCSH	5589	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	11558391	11558391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggctgaagaagaGgaggaggaggaggattccga	16	3	19	3	1	0	5	0	1	0	4	1	12	1	10	1	6	0	1	1	6	4	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:11558391G>A	ENST00000589838.1	+	10	987	c.987G>A	c.(985-987)gaG>gaA	p.E329E	PRKCSH_ENST00000252455.2_Silent_p.E329E|PRKCSH_ENST00000587327.1_Silent_p.E329E|PRKCSH_ENST00000412601.1_Silent_p.E329E|PRKCSH_ENST00000592741.1_Silent_p.E329E|PRKCSH_ENST00000591462.1_Silent_p.E329E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	329	Glu-rich (acidic).				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)	p.E329E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ctgaagaagaggaggaggagg	0.632																																					p.E329E													PRKCSH,NS,carcinoma,0,1	PRKCSH	0	1	1	Substitution - coding silent(1)	prostate(1)	c.G987A												23	23	23					19																	11558391		2201	4298	6499	SO:0001819	synonymous_variant	5589	exon11			AGAAGAGGAGGAG		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.987G>A	19.37:g.11558391G>A			67	0	0		77	0.06	5	NM_001001329	101	0.03	3	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																					0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000458817.1				A	11558391	G	A	11558391	2	1	134	1	0	0	0	0	0	0	0	1	12536	991	35	3		3	PRKCSH	19	11558391	Silent	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	5774505	11558391	47570592	45	9935											
CCDC105	126402	mdanderson.org	37	chr19	15132449	15132449	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagattaaatatgacgttaGgactgatgaggggaactatc	16	10	11	4	1	0	4	0	3	0	1	1	6	0	6	0	3	1	1	0	3	7	4			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:15132449G>T	ENST00000292574.3	+	5	1145	c.1063G>T	c.(1063-1065)Gga>Tga	p.G355*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	355						extracellular vesicular exosome (GO:0070062)		p.G355K(1)|p.G355R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TATGACGTTAGGACTGATGAG	0.587																																					p.G355X													CCDC105,NS,carcinoma,0,2	CCDC105	0	2	2	Substitution - Missense(2)	lung(2)	c.G1063T												81	80	80					19																	15132449		2203	4300	6503	SO:0001587	stop_gained	126402	exon5			ACGTTAGGACTGA	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.1063G>T	19.37:g.15132449G>T	ENSP00000292574:p.Gly355*		58	0	0		55	0.05	3	NM_173482	0		0	Q8N7T5|Q8NDL5	Nonsense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206895	0.58343	.	.	ENSG00000160994	ENST00000292574	.	.	.	3.91	3.91	0.45181	.	0.110416	0.36703	N	0.002455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.8949	11.3526	0.49596	0.0:0.0:1.0:0.0	.	.	.	.	X	355	.	ENSP00000292574:G355X	G	+	1	0	CCDC105	14993449	0.996000	0.38824	0.158000	0.22627	0.082000	0.17680	3.984000	0.56923	2.033000	0.60031	0.549000	0.68633	GGA			0.587	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466293.1		NM_173482		T	15132449	G	T	15132449	4	4	134	1	0	0	0	0	0	1	0	0	2742	1001	35	3	1081	3	CCDC105	19	15132449	Nonsense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	3574058	15132449	43996534	46	9936											
IFI30	10437	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	18288094	18288094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtgccctgggtcaccGtcaatggggtaagaatcttt	9	12	12	8	1	3	1	2	0	1	1	3	1	3	1	2	3	1	2	2	3	4	3	rs533404165	byFrequency	TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:18288094G>A	ENST00000407280.3	+	5	803	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	210					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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CTGGGTCACCGTCAATGGGGT	0.572													G|||	5	0.000998403	0	0	5008	,	,		17592	0		0	False		,,,				2504	0.0051				p.V210I													.	IFI30	12		0			c.G628A												45	45	45					19																	18288094		2143	4255	6398	SO:0001583	missense	10437	exon5			GTCACCGTCAATG	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.628G>A	19.37:g.18288094G>A	ENSP00000384886:p.Val210Ile		136	0	0		113	0.05	6	NM_006332	1685	0	0	Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	G	3.142	-0.176014	0.06380	.	.	ENSG00000216490	ENST00000407280	T	0.30448	1.53	5.1	1.64	0.23874	.	.	.	.	.	T	0.15046	0.0363	N	0.21448	0.665	0.27418	N	0.954381	B	0.15930	0.015	B	0.08055	0.003	T	0.31861	-0.9928	9	0.07175	T	0.84	-31.0579	5.245	0.15493	0.2967:0.1482:0.555:0.0	.	210	P13284	GILT_HUMAN	I	210	ENSP00000384886:V210I	ENSP00000384886:V210I	V	+	1	0	IFI30	18149094	0.818000	0.29161	0.985000	0.45067	0.015000	0.08874	0.696000	0.25541	1.170000	0.42753	-0.226000	0.12346	GTC			0.572	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466396.3		NM_006332		A	18288094	G	A	18288094	3	1	134	1	0	0	0	0	1	0	0	0	7530	1145	40	1	646	1	IFI30	19	18288094	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	3155645	18288094	40840889	47	9937											
ZNF573	126231	hgsc.bcm.edu	37	chr19	38260728	38260728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacaactggtttagaaatgGaatgtcctccttataagaaa	15	11	7	8	0	0	2	0	0	0	2	2	3	2	3	3	2	1	1	3	2	7	4			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:38260728G>T	ENST00000590414.2	-	3	233	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000357309.3_5'UTR|ZNF573_ENST00000392138.1_Intron|ZNF573_ENST00000585724.1_Missense_Mutation_p.P27T|ZNF573_ENST00000536220.1_5'UTR			Q86YE8	ZN573_HUMAN	zinc finger protein 573	71	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)			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)			TTTAGAAATGGAATGTCCTCC	0.373																																					p.S71Y													.	.			0			c.C212A																																									SO:0001583	missense	126231	exon4			GAAATGGAATGTC	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.212C>A	19.37:g.38260728G>T	ENSP00000465020:p.Ser71Tyr		111	0	0		98	0.04	4	NM_001172690	0		0	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744900	0.49151	.	.	ENSG00000189144	ENST00000378445	T	0.00724	5.78	2.13	2.13	0.27403	Krueppel-associated box (3);	.	.	.	.	T	0.01940	0.0061	L	0.50919	1.6	0.80722	D	1	D	0.58970	0.984	P	0.62435	0.902	T	0.69057	-0.5246	9	0.35671	T	0.21	.	7.8045	0.29193	0.0:0.0:1.0:0.0	.	51	Q86YE8	ZN573_HUMAN	Y	15	ENSP00000367706:S15Y	ENSP00000367706:S15Y	S	-	2	0	ZNF573	42952568	0.002000	0.14202	0.987000	0.45799	0.986000	0.74619	0.670000	0.25157	1.502000	0.48669	0.555000	0.69702	TCC			0.373	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459773.2		NM_152360		T	38260728	G	T	38260728	3	4	134	1	0	0	0	0	1	0	0	0	18028	1174	41	3	1918	3	ZNF573	19	38260728	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	19972634	38260728	20868255	48	9938											
OPA3	80207	mdanderson.org	37	chr19	46087973	46087973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcggcttgctgacctgcCggatgcccaagtatagcagc	9	7	12	13	2	0	1	0	1	0	0	0	2	0	2	3	2	6	4	3	2	4	3			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:46087973C>T	ENST00000263275.4	-	1	104	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Missense_Mutation_p.R17Q	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	17					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCTGACCTGCCGGATGCCCAA	0.627																																					p.R17Q													.	.			0			c.G50A												63	62	62					19																	46087973		2203	4300	6503	SO:0001583	missense	80207	exon1			ACCTGCCGGATGC	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.50G>A	19.37:g.46087973C>T	ENSP00000263275:p.Arg17Gln		60	0	0		48	0.06	3	NM_001017989	23	0	0	Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	37	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	C	37	6.496440	0.97616	.	.	ENSG00000125741	ENST00000323060;ENST00000263275	D;D	0.87179	-2.22;-2.22	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.95204	0.8445	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.95676	0.8728	10	0.87932	D	0	6.0E-4	17.8364	0.88699	0.0:1.0:0.0:0.0	.	17;17	Q9H6K4;Q9H6K4-2	OPA3_HUMAN;.	Q	17	ENSP00000319817:R17Q;ENSP00000263275:R17Q	ENSP00000263275:R17Q	R	-	2	0	OPA3	50779813	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.031000	0.76491	2.884000	0.98904	0.655000	0.94253	CGG			0.627	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000459601.1				T	46087973	C	T	46087973	3	4	134	1	0	0	0	0	1	0	0	0	10889	652	23	1	902	1	OPA3	19	46087973	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	7827245	46087973	13041010	49	9939											
HSD17B14	51171	mdanderson.org	37	chr19	49318335	49318335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcctgggcctggccgattgCccccaccaggctggagatgt	5	8	14	14	1	0	1	0	0	0	1	0	3	0	1	6	4	2	1	6	4	0	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:49318335C>T	ENST00000263278.4	-	6	699	c.433G>A	c.(433-435)Gca>Aca	p.A145T	HSD17B14_ENST00000599157.1_Missense_Mutation_p.A121T	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	145					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-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;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TGGCCGATTGCCCCCACCAGG	0.602																																					p.A145T													.	.			0			c.G433A												110	86	94					19																	49318335		2203	4300	6503	SO:0001583	missense	51171	exon6			CGATTGCCCCCAC	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.433G>A	19.37:g.49318335C>T	ENSP00000263278:p.Ala145Thr		85	0	0		50	0.06	3	NM_016246	30	0	0	Q9UKU3	Missense_Mutation	SNP	ENST00000263278.4	37	CCDS12736.1	.	.	.	.	.	.	.	.	.	.	C	6.366	0.435721	0.12104	.	.	ENSG00000087076	ENST00000263278	D	0.87256	-2.23	4.07	4.07	0.47477	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.335067	0.27961	N	0.017151	T	0.73361	0.3577	N	0.11870	0.19	0.34930	D	0.749263	B	0.14805	0.011	B	0.08055	0.003	T	0.73607	-0.3929	10	0.41790	T	0.15	.	7.9272	0.29880	0.0:0.889:0.0:0.111	.	145	Q9BPX1	DHB14_HUMAN	T	145	ENSP00000263278:A145T	ENSP00000263278:A145T	A	-	1	0	HSD17B14	54010147	0.583000	0.26757	0.819000	0.32651	0.503000	0.33858	0.845000	0.27668	2.279000	0.76181	0.558000	0.71614	GCA			0.602	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466212.1		NM_016246		T	49318335	C	T	49318335	3	4	134	1	0	0	0	0	1	0	0	0	7398	739	26	2	395	2	HSD17B14	19	49318335	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10	3230362	49318335	9810648	50	9940											
SYT3	84258	hgsc.bcm.edu;broad.mit.edu	37	chr19	51128793	51128793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcagacgccgcccctcGctgatcagggaggccttcac	6	9	10	16	3	4	2	3	1	1	1	5	3	4	3	4	2	0	1	4	2	0	3			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:51128793G>T	ENST00000338916.4	-	6	2064	c.1431C>A	c.(1429-1431)agC>agA	p.S477R	SYT3_ENST00000544769.1_Missense_Mutation_p.S477R|SYT3_ENST00000600079.1_Missense_Mutation_p.S477R|SYT3_ENST00000593901.1_Missense_Mutation_p.S477R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	477	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCGCCCCTCGCTGATCAGGG	0.602																																					p.S477R													.	.			0			c.C1431A												48	44	45					19																	51128793		2203	4300	6503	SO:0001583	missense	84258	exon6			CCCCTCGCTGATC	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1431C>A	19.37:g.51128793G>T	ENSP00000340914:p.Ser477Arg		81	0	0		97	0.04	4	NM_032298	8	0	0	Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936581	0.34189	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.72394	-0.65;-0.65	3.38	-0.304	0.12788	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.258169	0.29892	U	0.010928	T	0.53674	0.1811	L	0.43646	1.37	0.31239	N	0.695448	B	0.32731	0.382	B	0.27715	0.082	T	0.56709	-0.7934	10	0.72032	D	0.01	.	5.7288	0.18028	0.215:0.1653:0.6197:0.0	.	477	Q9BQG1	SYT3_HUMAN	R	477	ENSP00000340914:S477R;ENSP00000438883:S477R	ENSP00000340914:S477R	S	-	3	2	SYT3	55820605	0.003000	0.15002	1.000000	0.80357	0.845000	0.48019	-0.956000	0.03865	0.557000	0.29117	0.478000	0.44815	AGC			0.602	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464910.1		NM_032298		T	51128793	G	T	51128793	3	4	134	1	0	0	0	0	1	0	0	0	15498	1078	38	1	353	1	SYT3	19	51128793	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	1810458	51128793	8000190	51	9941											
ZNF551	90233	broad.mit.edu	37	chr19	58198322	58198322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagttattacaagtggggtGaatacagaaaagcttcaagc	17	9	10	5	0	1	2	1	1	0	1	1	2	1	2	0	2	4	2	0	2	9	4			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr19:58198322G>A	ENST00000282296.5	+	3	864	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E211K			Q7Z340	ZN551_HUMAN	zinc finger protein 551	227					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)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAAGTGGGGTGAATACAGAAA	0.448																																					p.E227K													.	ZNF551	65		0			c.G679A												74	76	75					19																	58198322		2203	4300	6503	SO:0001583	missense	90233	exon3			TGGGGTGAATACA	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.679G>A	19.37:g.58198322G>A	ENSP00000282296:p.Glu227Lys		57	0.0701754386	4		44	0.11	5	NM_138347	10	0	0	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	9.307	1.054645	0.19907	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.27	-4.12	0.03916	.	.	.	.	.	T	0.29458	0.0734	L	0.45698	1.435	0.09310	N	1	B	0.27971	0.196	B	0.25140	0.058	T	0.33059	-0.9883	8	0.59425	D	0.04	.	5.2585	0.15559	0.2275:0.3073:0.4652:0.0	.	227	Q7Z340	ZN551_HUMAN	K	227;211;121	.	ENSP00000282296:E211K	E	+	1	0	ZNF551	62890134	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.520000	0.06435	-0.291000	0.09656	GAA			0.448	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000466803.2		NM_138347		A	58198322	G	A	58198322	3	1	134	1	0	0	0	0	1	0	0	0	18006	1291	45	3	641	3	ZNF551	19	58198322	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	7069529	58198322	930661	52	9942											
SIGLEC1	6614	mdanderson.org	37	chr20	3673619	3673619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgcagctccaggcgcaggGtgttggggacagaggctgct	6	7	17	11	2	0	1	0	0	0	1	2	2	1	2	1	5	2	6	1	5	0	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr20:3673619G>T	ENST00000344754.4	-	14	3667	c.3668C>A	c.(3667-3669)aCc>aAc	p.T1223N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.T1223N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1223	Ig-like C2-type 12.				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						CAGGCGCAGGGTGTTGGGGAC	0.697																																					p.T1223N													.	.			0			c.C3668A												24	28	26					20																	3673619		2199	4291	6490	SO:0001583	missense	6614	exon14			CGCAGGGTGTTGG	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.3668C>A	20.37:g.3673619G>T	ENSP00000341141:p.Thr1223Asn		48	0	0		41	0.07	3	NM_023068	36	0	0	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.16|15.16	2.750576|2.750576	0.49257|0.49257	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.73789	.|-0.78;-0.78	4.98|4.98	4.04|4.04	0.47022|0.47022	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.41001	.|D	.|0.000965	T|T	0.80319|0.80319	0.4601|0.4601	L|L	0.56280|0.56280	1.765|1.765	0.31241|0.31241	N|N	0.69523|0.69523	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.984;0.998	T|T	0.77907|0.77907	-0.2412|-0.2412	5|10	.|0.33940	.|T	.|0.23	.|.	9.1314|9.1314	0.36848|0.36848	0.0988:0.0:0.9012:0.0|0.0988:0.0:0.9012:0.0	.|.	.|1223;1223	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	Q|N	36|1223	.|ENSP00000341141:T1223N;ENSP00000202578:T1223N	.|ENSP00000202578:T1223N	H|T	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621619|3621619	0.416000|0.416000	0.25424|0.25424	1.000000|1.000000	0.80357|0.80357	0.782000|0.782000	0.44232|0.44232	1.616000|1.616000	0.36933|0.36933	1.338000|1.338000	0.45544|0.45544	-0.136000|-0.136000	0.14681|0.14681	CAC|ACC			0.697	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077761.2		NM_023068		T	3673619	G	T	3673619	3	4	134	1	0	0	0	0	1	0	0	0	14328	1261	44	3	1493	3	SIGLEC1	20	3673619	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10		3673619	59351901	53	9943											
MMP11	4320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	24124604	24124604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgtgtagacagtcccgtgCcccgcagggccactgactgg	6	6	15	14	3	0	2	0	1	0	1	1	2	1	2	4	3	1	2	4	3	1	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr22:24124604C>A	ENST00000215743.3	+	7	1319	c.1267C>A	c.(1267-1269)Ccc>Acc	p.P423T	AP000349.1_ENST00000598975.1_Missense_Mutation_p.A204S	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	423					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)	CAGTCCCGTGCCCCGCAGGGC	0.637																																					p.P423T													.	.			0			c.C1267A												44	37	39					22																	24124604		2203	4300	6503	SO:0001583	missense	4320	exon7			CCCGTGCCCCGCA		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.1267C>A	22.37:g.24124604C>A	ENSP00000215743:p.Pro423Thr		86	0	0		81	0.17	14	NM_005940	94	0.22	21	Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600639	0.46423	.	.	ENSG00000099953	ENST00000215743	T	0.05786	3.39	4.93	4.93	0.64822	Hemopexin/matrixin (2);	0.051162	0.85682	D	0.000000	T	0.32912	0.0845	H	0.96633	3.855	0.45183	D	0.998199	D	0.71674	0.998	D	0.72982	0.979	T	0.30534	-0.9975	10	0.87932	D	0	.	7.101	0.25338	0.0:0.8186:0.0:0.1814	.	423	P24347	MMP11_HUMAN	T	423	ENSP00000215743:P423T	ENSP00000215743:P423T	P	+	1	0	MMP11	22454604	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	4.202000	0.58446	2.761000	0.94854	0.585000	0.79938	CCC			0.637	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319891.2		NM_005940		A	24124604	C	A	24124604	3	1	134	1	0	0	0	0	1	0	0	0	9666	739	26	2	1293	2	MMP11	22	24124604	Missense_Mutation	SNP	C	TCGA-YU-A90Y-01A-11D-A435-10		24124604	27179962	54	9944											
SH3BP1	23616	mdanderson.org	37	chr22	38038946	38038946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccagaatcagctggcccGcatcctggccgagtttgaga	9	8	11	13	2	1	2	1	1	0	2	3	4	3	2	4	2	1	3	4	2	1	1			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr22:38038946G>A	ENST00000357436.4	+	5	642	c.329G>A	c.(328-330)cGc>cAc	p.R110H	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R110H|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R110H|SH3BP1_ENST00000599616.1_Missense_Mutation_p.R46H|SH3BP1_ENST00000495174.1_3'UTR	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	110	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CAGCTGGCCCGCATCCTGGCC	0.637											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R110H													.	.			0			c.G329A												66	58	61					22																	38038946		2203	4300	6503	SO:0001583	missense	23616	exon5			TGGCCCGCATCCT		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.329G>A	22.37:g.38038946G>A	ENSP00000350018:p.Arg110His		49	0	0	875	30	0.1	3	NM_018957	82	0.01	1	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771751	0.49680	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.62364	0.03;0.03;0.03	4.51	4.51	0.55191	BAR (2);	0.307267	0.23222	N	0.050551	T	0.64125	0.2570	L	0.34521	1.04	0.09310	N	0.999999	B;D;D;D;D	0.71674	0.121;0.998;0.998;0.998;0.998	B;P;P;P;P	0.61201	0.064;0.885;0.841;0.883;0.885	T	0.55379	-0.8150	10	0.51188	T	0.08	.	9.5579	0.39351	0.1059:0.0:0.8941:0.0	.	110;24;46;110;24	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	H	110;110;110;24	ENSP00000350018:R110H;ENSP00000337213:R110H;ENSP00000395126:R110H	ENSP00000337213:R110H	R	+	2	0	SH3BP1	36368892	0.001000	0.12720	1.000000	0.80357	0.997000	0.91878	0.955000	0.29188	2.338000	0.79540	0.491000	0.48974	CGC			0.637	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075884.4		NM_018957		A	38038946	G	A	38038946	3	1	134	1	0	0	0	0	1	0	0	0	14267	1087	38	1	347	1	SH3BP1	22	38038946	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	13914342	38038946	13265620	55	9945											
CELSR1	9620	mdanderson.org	37	chr22	46931226	46931226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaggcccagcgctgccGccccccagaaaggtggaggc	7	6	13	15	2	1	1	0	0	1	1	1	2	1	2	5	4	2	1	5	4	2	2			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr22:46931226G>A	ENST00000262738.3	-	1	1841	c.1842C>T	c.(1840-1842)ggC>ggT	p.G614G	CELSR1_ENST00000395964.1_Silent_p.G614G|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	614	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCGCTGCCGCCCCCCAGAA	0.657																																					p.G614G													.	.			0			c.C1842T												24	26	25					22																	46931226		2203	4296	6499	SO:0001819	synonymous_variant	9620	exon1			GCTGCCGCCCCCC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1842C>T	22.37:g.46931226G>A			35	0	0		22	0.14	3	NM_014246	5	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																					0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		A	46931226	G	A	46931226	2	1	134	1	0	0	0	0	0	0	0	1	3223	1074	38	1		1	CELSR1	22	46931226	Silent	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	8892280	46931226	4373340	56	9946											
GRAMD4	23151	broad.mit.edu;mdanderson.org	37	chr22	47022780	47022780	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggagtctccaaatgcctcGgacaccgaatgcagcgacga	11	5	12	13	5	1	0	0	0	1	0	3	5	1	2	3	2	3	1	3	2	2	0			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chr22:47022780G>T	ENST00000406902.1	+	2	297	c.84G>T	c.(82-84)tcG>tcT	p.S28S	GRAMD4_ENST00000361034.3_Silent_p.S28S|GRAMD4_ENST00000490378.1_3'UTR			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	28					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)		CAAATGCCTCGGACACCGAAT	0.582																																					p.S28S													GRAMD4,colon,carcinoma,+1,1	GRAMD4	53	1	0			c.G84T												152	122	132					22																	47022780		2203	4300	6503	SO:0001819	synonymous_variant	23151	exon1			TGCCTCGGACACC		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.84G>T	22.37:g.47022780G>T			107	0	0		77	0.05	4	NM_015124	10	0	0	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	CCDS33672.1																																																																																					0.582	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317969.1		NM_015124		T	47022780	G	T	47022780	2	4	134	1	0	0	0	0	0	0	0	1	6767	1103	39	1		1	GRAMD4	22	47022780	Silent	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10	91554	47022780	4281786	57	9947											
SYTL4	94121	mdanderson.org	37	chrX	99956557	99956557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgacaagtattggttttggGactcaaacggcccaggctct	9	10	11	11	2	2	0	1	0	1	0	2	2	2	1	2	4	1	3	2	4	3	4			TCGA-YU-A90Y-01A-11D-A435-10	TCGA-YU-A90Y-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32056480-ba82-46ee-bed1-c4ec50b3614c	68dac3a8-75ad-4877-bccf-f8e831ed8b21	g.chrX:99956557G>T	ENST00000372989.1	-	5	554	c.223C>A	c.(223-225)Ccc>Acc	p.P75T	SYTL4_ENST00000455616.1_Missense_Mutation_p.P75T|SYTL4_ENST00000263033.5_Missense_Mutation_p.P75T|SYTL4_ENST00000372981.1_Missense_Mutation_p.P75T|SYTL4_ENST00000276141.6_Missense_Mutation_p.P75T|SYTL4_ENST00000454200.2_Missense_Mutation_p.P75T	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	75	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)"	TTGGTTTTGGGACTCAAACGG	0.557																																					p.P75T													.	.			0			c.C223A												93	81	85					X																	99956557		2203	4300	6503	SO:0001583	missense	94121	exon4			TTTTGGGACTCAA		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.223C>A	X.37:g.99956557G>T	ENSP00000362080:p.Pro75Thr		78	0	0		45	0.07	3	NM_001129896	1	0	0	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936329	0.34189	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.25	3.43	0.39272	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.286234	0.40144	N	0.001175	T	0.65749	0.2721	L	0.29908	0.895	0.19300	N	0.999971	P;B	0.41232	0.743;0.148	P;B	0.45232	0.474;0.075	T	0.56432	-0.7980	9	.	.	.	-9.9427	10.8334	0.46673	0.1631:0.0:0.8369:0.0	.	75;75	Q96C24-2;Q96C24	.;SYTL4_HUMAN	T	75	ENSP00000362080:P75T;ENSP00000390252:P75T;ENSP00000403556:P75T;ENSP00000276141:P75T;ENSP00000263033:P75T;ENSP00000362072:P75T	.	P	-	1	0	SYTL4	99843213	1.000000	0.71417	0.569000	0.28460	0.893000	0.52053	2.351000	0.44071	1.089000	0.41292	0.600000	0.82982	CCC			0.557	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000057488.1		NM_080737		T	99956557	G	T	99956557	3	4	134	1	0	0	0	0	1	0	0	0	15508	1174	41	3	1852	3	SYTL4	23	99956557	Missense_Mutation	SNP	G	TCGA-YU-A90Y-01A-11D-A435-10		99956557	55314003	58	9948											
ARHGEF16	27237	mdanderson.org	37	chr1	3397126	3397126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtccgcaggatggagcGtctgcgggtggagacggacg	8	6	18	9	5	1	1	0	0	1	1	2	5	2	4	1	5	2	1	1	5	1	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr1:3397126G>T	ENST00000378378.4	+	15	2510	c.2105G>T	c.(2104-2106)cGt>cTt	p.R702L	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R406L|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R414L|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R414L	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	702					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGATGGAGCGTCTGCGGGTG	0.662																																					p.R702L													.	.			0			c.G2105T												41	37	38					1																	3397126		2201	4294	6495	SO:0001583	missense	27237	exon15			TGGAGCGTCTGCG	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.2105G>T	1.37:g.3397126G>T	ENSP00000367629:p.Arg702Leu		33	0	0		20	0.2	4	NM_014448	52	0	0	Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456653	0.84317	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.78003	-0.95;-0.6;-0.6;-1.14	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90372	0.4381	10	0.87932	D	0	-38.3556	18.7336	0.91746	0.0:0.0:1.0:0.0	.	406;702	B4DJM7;Q5VV41	.;ARHGG_HUMAN	L	702;414;414;406	ENSP00000367629:R702L;ENSP00000367624:R414L;ENSP00000367622:R414L;ENSP00000408887:R406L	ENSP00000367622:R414L	R	+	2	0	ARHGEF16	3386986	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.786000	0.91826	2.437000	0.82529	0.462000	0.41574	CGT			0.662	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001515.1		NM_014448		T	3397126	G	T	3397126	3	4	135	1	0	0	0	0	1	0	0	0	899	1145	40	1	2159	1	ARHGEF16	1	3397126	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10		3397126	245853495	1	9949											
CASZ1	54897	mdanderson.org	37	chr1	10699273	10699273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgaggactccccagctGcggcggcggcggcggcggcg	3	3	19	16	8	0	0	0	0	0	0	1	2	1	1	3	7	3	1	3	7	0	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr1:10699273G>T	ENST00000377022.3	-	21	5323	c.5006C>A	c.(5005-5007)gCa>gAa	p.A1669E	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1669	Ala-rich.				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)		CTCCCCAGCTgcggcggcggc	0.806																																					p.A1669E													.	.			0			c.C5006A												2	2	2					1																	10699273		1245	2649	3894	SO:0001583	missense	54897	exon21			CCAGCTGCGGCGG	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.5006C>A	1.37:g.10699273G>T	ENSP00000366221:p.Ala1669Glu		13	0	0		14	0.14	2	NM_001079843	0		0	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937674	0.34189	.	.	ENSG00000130940	ENST00000377022	.	.	.	0.826	0.826	0.18829	.	1.332390	0.06449	U	0.727344	T	0.24509	0.0594	N	0.14661	0.345	0.09310	N	0.999993	B	0.06786	0.001	B	0.01281	0.0	T	0.21484	-1.0244	9	0.33940	T	0.23	-0.8002	5.49	0.16771	0.0:0.0:1.0:0.0	.	1669	Q86V15	CASZ1_HUMAN	E	1669	.	ENSP00000366221:A1669E	A	-	2	0	CASZ1	10621860	0.001000	0.12720	0.043000	0.18650	0.177000	0.22998	0.000000	0.12993	0.891000	0.36235	0.000000	0.15137	GCA			0.806	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005673.2		NM_017766		T	10699273	G	T	10699273	3	4	135	1	0	0	0	0	1	0	0	0	2687	1319	46	2	277	2	CASZ1	1	10699273	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	7302147	10699273	238551348	2	9950											
KIAA2013	90231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	11982843	11982843	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggccatgtgctcatcAtgggccaggatggccttgag	6	10	15	10	0	2	1	2	1	0	0	2	2	2	2	3	4	2	2	3	4	0	1			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr1:11982843A>C	ENST00000376572.3	-	2	1922	c.1737T>G	c.(1735-1737)caT>caG	p.H579Q	KIAA2013_ENST00000376576.3_Missense_Mutation_p.H579Q	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	579						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCTCATCATGGGCCAGGA	0.612																																					p.H579Q													.	.			0			c.T1737G												46	42	43					1																	11982843		2203	4300	6503	SO:0001583	missense	90231	exon2			CTCATCATGGGCC	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1737T>G	1.37:g.11982843A>C	ENSP00000365756:p.His579Gln		195	0	0		237	0.3	72	NM_138346	374	0.32	120	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	CCDS141.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210108	0.58343	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.82	0.504	0.16946	.	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.65975	2.015	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.78314	0.984;0.991	T	0.68637	-0.5356	9	0.87932	D	0	-27.0168	9.9911	0.41872	0.5094:0.0:0.4906:0.0	.	579;579	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	Q	579	.	ENSP00000365756:H579Q	H	-	3	2	KIAA2013	11905430	0.995000	0.38212	0.999000	0.59377	0.918000	0.54935	0.315000	0.19451	0.093000	0.17368	-0.917000	0.02746	CAT			0.612	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006858.1		NM_138346		C	11982843	A	C	11982843	3	2	135	1	0	0	0	0	1	0	0	0	8282	214	8	4	175	4	KIAA2013	1	11982843	Missense_Mutation	SNP	A	TCGA-YU-A912-01A-11D-A435-10	1283570	11982843	237267778	3	9951											
DNM3	26052	hgsc.bcm.edu	37	chr1	171810829	171810829	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatggaggagctgatcccGctggtgaaccgtctgcagga	9	7	16	9	2	1	3	0	2	1	1	2	7	2	6	2	4	3	3	2	4	1	0	rs376123360		TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr1:171810829G>T	ENST00000355305.5	+	1	190	c.33G>T	c.(31-33)ccG>ccT	p.P11P	DNM3_ENST00000358155.4_Silent_p.P11P|DNM3_ENST00000367731.1_Silent_p.P11P|DNM3_ENST00000367733.2_Silent_p.P11P|DNM3_ENST00000520906.1_Silent_p.P11P			Q9UQ16	DYN3_HUMAN	dynamin 3	11					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCTGATCCCGCTGGTGAACC	0.692																																					p.P11P													DNM3,caecum,carcinoma,+1,1	DNM3	1	1	0			c.G33T							G	,	1,4293		0,1,2146	23	32	29		33,33	-7.3	0.8	1		29	0,8538		0,0,4269	no	coding-synonymous,coding-synonymous	DNM3	NM_001136127.1,NM_015569.3	,	0,1,6415	TT,TG,GG		0.0,0.0233,0.0078	,	11/860,11/864	171810829	1,12831	2147	4269	6416	SO:0001819	synonymous_variant	26052	exon1			GATCCCGCTGGTG	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.33G>T	1.37:g.171810829G>T			63	0	0		47	0.04	2	NM_001136127	2	0	0	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37																																																																																						0.692	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000084531.1		NM_015569		T	171810829	G	T	171810829	2	4	135	1	0	0	0	0	0	0	0	1	4678	1074	38	1		1	DNM3	1	171810829	Silent	SNP	G	TCGA-YU-A912-01A-11D-A435-10	159827986	171810829	77439792	4	9952											
FMN2	56776	mdanderson.org	37	chr1	240371244	240371244	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgggcataccccctccGcccccacttcccggagcggg	5	4	13	19	4	0	0	0	0	0	0	2	2	2	2	6	4	3	1	6	4	1	2	rs200328010		TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr1:240371244G>A	ENST00000319653.9	+	5	3362	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1044	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCACTTC	0.731																																					p.P1044P													FMN2,right_upper_lobe,carcinoma,+1,1	FMN2	1	1	0			c.G3132A												3	4	3					1																	240371244		1296	2955	4251	SO:0001819	synonymous_variant	56776	exon5			CCCTCCGCCCCCA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3132G>A	1.37:g.240371244G>A			76	0.0263157895	2		58	0.12	7	NM_020066	1	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			0.002		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352		A	240371244	G	A	240371244	2	1	135	1	0	0	0	0	0	0	0	1	5963	1074	38	1		1	FMN2	1	240371244	Silent	SNP	G	TCGA-YU-A912-01A-11D-A435-10	68560415	240371244	8879377	5	9953											
KIF26B	55083	mdanderson.org	37	chr1	245851927	245851927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcggggagctcccgcCggccatggggaagacggccc	6	3	18	14	4	0	2	0	1	0	1	1	4	1	4	4	6	2	2	4	6	1	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr1:245851927C>T	ENST00000407071.2	+	12	6082	c.5642C>T	c.(5641-5643)cCg>cTg	p.P1881L	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1500L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1881					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCTCCCGCCGGCCATGGGG	0.731																																					p.P1881L													.	.			0			c.C5642T												6	7	7					1																	245851927		1941	3991	5932	SO:0001583	missense	55083	exon12			TCCCGCCGGCCAT	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5642C>T	1.37:g.245851927C>T	ENSP00000385545:p.Pro1881Leu		44	0	0		26	0.08	2	NM_018012	0		0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790178	0.90367	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.82893	-1.66;-1.66	5.18	5.18	0.71444	.	.	.	.	.	D	0.91791	0.7403	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.974;0.983	D	0.92945	0.6375	9	0.87932	D	0	.	18.6823	0.91551	0.0:1.0:0.0:0.0	.	1500;1881	B7WPD9;Q2KJY2	.;KI26B_HUMAN	L	1881;1500;1497	ENSP00000385545:P1881L;ENSP00000355475:P1500L	ENSP00000355475:P1500L	P	+	2	0	KIF26B	243918550	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.618000	0.83043	2.409000	0.81822	0.462000	0.41574	CCG			0.731	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381037.1		XM_371354		T	245851927	C	T	245851927	3	4	135	1	0	0	0	0	1	0	0	0	8310	652	23	1	5688	1	KIF26B	1	245851927	Missense_Mutation	SNP	C	TCGA-YU-A912-01A-11D-A435-10	5480683	245851927	3398694	6	9954											
TRIP12	9320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	230663622	230663622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggtatcctttgaggcagCcctggcaaggccactacctc	8	9	11	13	0	0	1	0	1	0	0	2	2	1	1	4	4	2	3	4	4	3	3			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr2:230663622C>T	ENST00000283943.5	-	22	3404	c.3226G>A	c.(3226-3228)Gct>Act	p.A1076T	TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1124T|TRIP12_ENST00000389045.3_Missense_Mutation_p.A806T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1076					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)			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)		TTTGAGGCAGCCCTGGCAAGG	0.458																																					p.A1076T													.	.			0			c.G3226A												107	102	104					2																	230663622		2203	4300	6503	SO:0001583	missense	9320	exon22			AGGCAGCCCTGGC	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.3226G>A	2.37:g.230663622C>T	ENSP00000283943:p.Ala1076Thr		121	0	0		118	0.28	33	NM_004238	85	0.32	27	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466736	0.84425	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.43688	0.94;0.94;0.94	5.76	5.76	0.90799	.	0.098210	0.64402	D	0.000001	T	0.30759	0.0775	N	0.24115	0.695	0.80722	D	1	B;P;B	0.34522	0.319;0.455;0.319	B;B;B	0.29267	0.063;0.1;0.1	T	0.05517	-1.0880	10	0.20046	T	0.44	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	806;1124;1076	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	1076;806;1124	ENSP00000283943:A1076T;ENSP00000373697:A806T;ENSP00000373696:A1124T	ENSP00000283943:A1076T	A	-	1	0	TRIP12	230371866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.756000	0.68757	2.713000	0.92767	0.655000	0.94253	GCT			0.458	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000331861.3		NM_004238		T	230663622	C	T	230663622	3	4	135	1	0	0	0	0	1	0	0	0	16580	739	26	2	2832	2	TRIP12	2	230663622	Missense_Mutation	SNP	C	TCGA-YU-A912-01A-11D-A435-10		230663622	12535751	7	9955											
STK25	10494	mdanderson.org	37	chr2	242437664	242437664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaccttctgtgaactgtGcagggccgtccccttgtgaa	8	10	11	12	1	1	3	0	2	1	1	2	3	2	3	4	1	2	1	4	1	2	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr2:242437664G>T	ENST00000316586.4	-	9	1367	c.1018C>A	c.(1018-1020)Cac>Aac	p.H340N	STK25_ENST00000405883.3_Missense_Mutation_p.H263N|STK25_ENST00000403346.3_Missense_Mutation_p.H340N|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Missense_Mutation_p.H246N|STK25_ENST00000405585.1_Missense_Mutation_p.H263N|STK25_ENST00000543554.1_Missense_Mutation_p.H246N|STK25_ENST00000401869.1_Missense_Mutation_p.H340N	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	340					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)		TGTGAACTGTGCAGGGCCGTC	0.662																																					p.H340N	NSCLC(99;1100 1566 7679 28647 48345)												.	.			0			c.C1018A												151	130	137					2																	242437664		2203	4300	6503	SO:0001583	missense	10494	exon9			AACTGTGCAGGGC	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.1018C>A	2.37:g.242437664G>T	ENSP00000325748:p.His340Asn		56	0	0		47	0.06	3	NM_001271977	188	0.01	2	A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	G	5.248	0.231222	0.09969	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.24	4.3	0.51218	.	0.265448	0.38005	N	0.001845	T	0.12008	0.0292	N	0.02011	-0.69	0.40204	D	0.977553	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.15780	-1.0425	10	0.16896	T	0.51	.	13.3176	0.60415	0.0:0.0:0.8424:0.1576	.	266;263;340	B4DVS7;A8K6Z3;O00506	.;.;STK25_HUMAN	N	340;340;340;263;246;263;246;246	ENSP00000325748:H340N;ENSP00000384162:H340N;ENSP00000385687:H340N;ENSP00000384444:H263N;ENSP00000385541:H263N;ENSP00000444886:H246N;ENSP00000446008:H246N	ENSP00000325748:H340N	H	-	1	0	STK25	242086337	0.990000	0.36364	0.981000	0.43875	0.480000	0.33159	2.548000	0.45794	2.619000	0.88677	0.561000	0.74099	CAC			0.662	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257265.4		NM_006374		T	242437664	G	T	242437664	3	4	135	1	0	0	0	0	1	0	0	0	15317	1319	46	2	278	2	STK25	2	242437664	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	11774042	242437664	761709	8	9956											
SCN5A	6331	mdanderson.org	37	chr3	38592963	38592963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctcggatcagtctgaGgatgcggcctattcgggcca	6	8	14	13	3	2	1	1	1	1	0	4	3	2	3	4	5	1	0	4	5	1	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr3:38592963G>T	ENST00000333535.4	-	28	5049	c.4900C>A	c.(4900-4902)Ctc>Atc	p.L1634I	SCN5A_ENST00000443581.1_Missense_Mutation_p.L1633I|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1616I|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1580I|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1580I|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1580I|SCN5A_ENST00000413689.1_Missense_Mutation_p.L1634I|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1633I|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1601I|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1616I|SCN5A_ENST00000464652.1_5'Flank			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1634					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)	ATCAGTCTGAGGATGCGGCCT	0.597																																					p.L1634I													.	.			0			c.C4900A												101	103	102					3																	38592963		2203	4300	6503	SO:0001583	missense	6331	exon28			GTCTGAGGATGCG	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.4900C>A	3.37:g.38592963G>T	ENSP00000328968:p.Leu1634Ile		99	0	0		52	0.06	3	NM_198056	2	0	0	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219021	0.79464	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.99113	-5.44;-5.44;-5.44;-5.44;-5.44;-5.44;-5.44;-5.44;-5.44;-5.44	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99330	0.9765	M	0.87269	2.87	0.54753	D	0.999987	D;D;D;D;D;P	0.89917	0.999;0.999;1.0;0.998;0.999;0.847	D;D;D;D;D;P	0.80764	0.991;0.994;0.992;0.983;0.986;0.622	D	0.98897	1.0775	10	0.87932	D	0	.	17.4903	0.87701	0.0:0.0:1.0:0.0	.	1580;1601;1616;1634;1633;1634	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	I	1616;1633;1634;1580;1633;1616;1634;1601;1580;1580	ENSP00000398962:L1616I;ENSP00000398266:L1633I;ENSP00000410257:L1634I;ENSP00000388797:L1580I;ENSP00000397915:L1633I;ENSP00000416634:L1616I;ENSP00000328968:L1634I;ENSP00000399524:L1601I;ENSP00000403355:L1580I;ENSP00000413996:L1580I	ENSP00000328968:L1634I	L	-	1	0	SCN5A	38567967	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.813000	0.86123	2.353000	0.79882	0.561000	0.74099	CTC			0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000377958.1		NM_198056		T	38592963	G	T	38592963	3	4	135	1	0	0	0	0	1	0	0	0	13945	1000	35	3	1154	3	SCN5A	3	38592963	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10		38592963	159429467	9	9957											
ZBTB47	92999	broad.mit.edu	37	chr3	42700893	42700893	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagctctgaggaggaggAgggggaggagggggaggctg	10	3	25	3	0	1	2	0	1	1	1	1	9	1	8	0	9	1	2	0	9	0	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr3:42700893A>G	ENST00000232974.6	+	2	1327	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G	ZBTB47_ENST00000457842.3_5'UTR|ZBTB47_ENST00000505904.1_Intron			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	349	Glu-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)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		gaggaggaggagggggaggag	0.667																																					p.E349G													.	ZBTB47	39		0			c.A1046G												3	7	6					3																	42700893		561	1419	1980	SO:0001583	missense	92999	exon2			AGGAGGAGGGGGA	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1046A>G	3.37:g.42700893A>G	ENSP00000232974:p.Glu349Gly		15	0	0		7	0.29	2	NM_145166	0		0	H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	ENST00000232974.6	37	CCDS46805.2	.	.	.	.	.	.	.	.	.	.	a	2.886	-0.230709	0.05983	.	.	ENSG00000114853	ENST00000232974	T	0.70749	-0.51	3.02	1.8	0.24995	.	.	.	.	.	T	0.48295	0.1492	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.23655	-1.0182	7	0.33940	T	0.23	.	5.0154	0.14333	0.8512:0.0:0.1488:0.0	.	.	.	.	G	349	ENSP00000232974:E349G	ENSP00000232974:E349G	E	+	2	0	ZBTB47	42675897	0.679000	0.27596	0.690000	0.30148	0.188000	0.23474	0.722000	0.25925	0.265000	0.21872	0.370000	0.22315	GAG			0.667	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343485.3		NM_145166		G	42700893	A	G	42700893	3	3	135	1	0	0	0	0	1	0	0	0	17571	304	11	4	1048	4	ZBTB47	3	42700893	Missense_Mutation	SNP	A	TCGA-YU-A912-01A-11D-A435-10	4107930	42700893	155321537	10	9958											
DRD3	1814	mdanderson.org	37	chr3	113858539	113858539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagatggagcagacagtgggGtcccctgtggatgagaaggg	10	6	19	6	0	0	3	0	1	0	3	1	7	1	5	2	5	1	1	2	5	1	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr3:113858539G>T	ENST00000460779.1	-	6	820	c.531C>A	c.(529-531)gaC>gaA	p.D177E	DRD3_ENST00000467632.1_Missense_Mutation_p.D177E|DRD3_ENST00000383673.2_Missense_Mutation_p.D177E|DRD3_ENST00000295881.7_Missense_Mutation_p.D177E	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	177					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGACAGTGGGGTCCCCTGTGG	0.507																																					p.D177E													.	.			0			c.C531A												91	85	87					3																	113858539		2203	4300	6503	SO:0001583	missense	1814	exon5			AGTGGGGTCCCCT		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.531C>A	3.37:g.113858539G>T	ENSP00000419402:p.Asp177Glu		69	0	0		44	0.09	4	NM_000796	0		0	A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279291	0.23307	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.12	0.836	0.18891	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	L	0.28014	0.82	0.45046	D	0.998068	B;B;B;B	0.19445	0.036;0.036;0.021;0.0	B;B;B;B	0.28553	0.091;0.091;0.038;0.003	T	0.04307	-1.0961	10	0.23891	T	0.37	.	7.79	0.29114	0.518:0.0:0.482:0.0	.	177;177;177;177	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	E	177	ENSP00000419402:D177E;ENSP00000420662:D177E;ENSP00000373169:D177E;ENSP00000295881:D177E	ENSP00000281274:D177E	D	-	3	2	DRD3	115341229	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.657000	0.46724	0.272000	0.22027	-0.136000	0.14681	GAC			0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354699.1		NM_000796.3		T	113858539	G	T	113858539	3	4	135	1	0	0	0	0	1	0	0	0	4763	1252	44	3	683	3	DRD3	3	113858539	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	71157646	113858539	84163891	11	9959											
YEATS2	55689	mdanderson.org	37	chr3	183504021	183504021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccacaatgctgagagtaGcaggaggggttatcacaact	14	7	12	8	0	1	1	1	1	0	1	1	4	1	2	1	3	4	4	1	3	5	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr3:183504021G>T	ENST00000305135.5	+	20	3040	c.2845G>T	c.(2845-2847)Gca>Tca	p.A949S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	949					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)			GCTGAGAGTAGCAGGAGGGGT	0.517																																					p.A949S													.	.			0			c.G2845T												66	67	67					3																	183504021		2008	4177	6185	SO:0001583	missense	55689	exon20			AGAGTAGCAGGAG	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.2845G>T	3.37:g.183504021G>T	ENSP00000306983:p.Ala949Ser		56	0	0		41	0.07	3	NM_018023	74	0	0	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.620655|2.620655	0.46736|0.46736	.|.	.|.	ENSG00000163872|ENSG00000163872	ENST00000421660;ENST00000305135|ENST00000432781	T|.	0.22134|.	1.97|.	5.88|5.88	4.93|4.93	0.64822|0.64822	.|.	0.149552|.	0.47455|.	D|.	0.000229|.	T|T	0.30947|0.30947	0.0781|0.0781	N|N	0.11560|0.11560	0.145|0.145	0.26925|0.26925	N|N	0.966581|0.966581	B;B|.	0.26975|.	0.165;0.021|.	B;B|.	0.30855|.	0.121;0.012|.	T|T	0.16928|0.16928	-1.0386|-1.0386	10|5	0.26408|.	T|.	0.33|.	-25.9916|-25.9916	16.0087|16.0087	0.80380|0.80380	0.0:0.0:0.8249:0.1751|0.0:0.0:0.8249:0.1751	.|.	111;949|.	Q8N5H6;Q9ULM3|.	.;YETS2_HUMAN|.	S|I	949|134	ENSP00000306983:A949S|.	ENSP00000306983:A949S|.	A|S	+|+	1|2	0|0	YEATS2|YEATS2	184986715|184986715	0.944000|0.944000	0.32072|0.32072	0.988000|0.988000	0.46212|0.46212	0.995000|0.995000	0.86356|0.86356	1.748000|1.748000	0.38308|0.38308	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GCA|AGC			0.517	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346507.2		NM_018023		T	183504021	G	T	183504021	3	4	135	1	0	0	0	0	1	0	0	0	17496	971	34	2	2919	2	YEATS2	3	183504021	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	69645482	183504021	14518409	12	9960											
CPZ	8532	mdanderson.org	37	chr4	8594640	8594640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggtgcgagtttgagcggaAccccgccggtaaggccgtcc	6	6	17	12	5	0	1	0	1	0	0	1	3	1	2	5	5	3	2	5	5	2	2	rs76775183		TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr4:8594640A>C	ENST00000360986.4	+	1	254	c.80A>C	c.(79-81)aAc>aCc	p.N27T	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.N27T|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	27	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			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						TTTGAGCGGAACCCCGCCGGT	0.716																																					p.N27T													.	.			0			c.A80C												2	3	3					4																	8594640		1662	3485	5147	SO:0001583	missense	8532	exon1			AGCGGAACCCCGC	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.80A>C	4.37:g.8594640A>C	ENSP00000354255:p.Asn27Thr		17	0.4117647059	7		14	0.36	5	NM_003652	2	0	0	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	a	8.123	0.781472	0.16120	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.58060	0.73;0.36	2.22	-4.3	0.03710	.	1.757890	0.03261	N	0.183244	T	0.35653	0.0939	L	0.29908	0.895	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.0	T	0.09729	-1.0661	10	0.35671	T	0.21	.	3.6279	0.08120	0.3254:0.0:0.4674:0.2072	.	27;27	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	27	ENSP00000354255:N27T;ENSP00000315074:N27T	ENSP00000315074:N27T	N	+	2	0	CPZ	8645540	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.183000	0.09712	-1.000000	0.03438	-0.429000	0.05907	AAC			0.716	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207001.4		NM_003652		C	8594640	A	C	8594640	3	2	135	1	0	0	0	0	1	0	0	0	3841	43	2	4	82	4	CPZ	4	8594640	Missense_Mutation	SNP	A	TCGA-YU-A912-01A-11D-A435-10		8594640	182559636	13	9961											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55599340	55599340	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatcaagaatgattctaaTtatgtggttaaaggaaacgt	16	12	9	4	1	2	2	1	1	1	1	2	4	2	3	0	2	1	1	0	2	7	4	rs121913514		TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr4:55599340T>A	ENST00000288135.5	+	17	2563	c.2466T>A	c.(2464-2466)aaT>aaA	p.N822K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> K (in a germ cell tumor of the testis; somatic mutation). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N822K(34)|p.N822N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATTCTAATTATGTGGTTA	0.383	N822K(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.N822K			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,malignant_melanoma,+2,48	KIT	2	48	35	Substitution - Missense(34)|Substitution - coding silent(1)	soft_tissue(17)|haematopoietic_and_lymphoid_tissue(11)|skin(4)|testis(2)|genital_tract(1)	c.T2466A												149	151	151					4																	55599340		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	TTCTAATTATGTG	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2466T>A	4.37:g.55599340T>A	ENSP00000288135:p.Asn822Lys		94	0	0		81	0.48	39	NM_000222	259	0.65	169	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707233	0.68615	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82344	-1.6;-1.6	5.47	3.01	0.34805	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	0.000009	D	0.84284	0.5438	L	0.33293	1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	D	0.83792	0.0231	10	0.87932	D	0	.	8.7243	0.34460	0.0:0.2153:0.0:0.7847	.	818;822	P10721-2;P10721	.;KIT_HUMAN	K	822;818	ENSP00000288135:N822K;ENSP00000390987:N818K	ENSP00000288135:N822K	N	+	3	2	KIT	55294097	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.920000	0.40025	0.883000	0.36040	0.477000	0.44152	AAT			0.383	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				A	55599340	T	A	55599340	3	1	135	1	0	0	0	0	1	0	0	0	8344	1490	52	5	2532	5	KIT	4	55599340	Missense_Mutation	SNP	T	TCGA-YU-A912-01A-11D-A435-10	47004700	55599340	135554936	14	9962											
CDH9	1007	mdanderson.org	37	chr5	26890658	26890658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atacggtccatatcagtatgCcgatcaacagagtacctggc	12	9	9	11	2	2	1	2	0	0	1	3	2	3	1	3	2	4	2	3	2	5	4			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	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						TATCAGTATGCCGATCAACAG	0.388																																					p.R423R	Melanoma(8;187 585 15745 40864 52829)												CDH9,NS,malignant_melanoma,-2,3	CDH9	-2	3	0			c.G1269A												85	86	86					5																	26890658		2203	4300	6503	SO:0001819	synonymous_variant	1007	exon8			AGTATGCCGATCA	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.1269G>A	5.37:g.26890658C>T			72	0	0		47	0.06	3	NM_016279	0		0	Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																					0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207352.1		NM_016279		T	26890658	C	T	26890658	2	4	135	1	0	0	0	0	0	0	0	1	3119	726	26	2		2	CDH9	5	26890658	Silent	SNP	C	TCGA-YU-A912-01A-11D-A435-10		26890658	154024602	15	9963											
FRS3	10817	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	41738715	41738715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatggcggcccgggtgctgGtgggcttctgcagtggggtc	2	9	21	9	2	1	0	0	0	1	0	2	1	1	1	1	8	2	3	1	8	0	1			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr6:41738715G>A	ENST00000373018.3	-	7	1372	c.1121C>T	c.(1120-1122)aCc>aTc	p.T374I	FRS3_ENST00000259748.2_Missense_Mutation_p.T374I	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	374					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)			CCGGGTGCTGGTGGGCTTCTG	0.667																																					p.T374I													.	.			0			c.C1121T												40	43	42					6																	41738715		2200	4295	6495	SO:0001583	missense	10817	exon7			GTGCTGGTGGGCT	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.1121C>T	6.37:g.41738715G>A	ENSP00000362109:p.Thr374Ile		62	0	0		61	0.1	6	NM_006653	15	0.27	4	Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674378	0.29693	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.21543	2.0;2.0	5.76	4.71	0.59529	.	0.300510	0.41001	D	0.000976	T	0.02970	0.0088	N	0.03608	-0.345	0.28769	N	0.900469	B	0.06786	0.001	B	0.06405	0.002	T	0.38520	-0.9657	10	0.14656	T	0.56	-19.3168	11.8675	0.52501	0.1506:0.0:0.8494:0.0	.	374	O43559	FRS3_HUMAN	I	374	ENSP00000362109:T374I;ENSP00000259748:T374I	ENSP00000259748:T374I	T	-	2	0	FRS3	41846693	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.800000	0.55537	2.728000	0.93425	0.655000	0.94253	ACC			0.667	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040532.2		NM_006653		A	41738715	G	A	41738715	3	1	135	1	0	0	0	0	1	0	0	0	6075	1261	44	3	361	3	FRS3	6	41738715	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10		41738715	129376352	16	9964											
RUNX2	860	mdanderson.org	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	10	1	18	12	4	0	0	0	0	0	0	0	1	0	1	0	6	7	7	0	6	1	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																					p.Q71E													RUNX2_ENST00000352853,NS,carcinoma,0,2	RUNX2_ENST00000352853	0	2	0			c.C211G												6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860	exon3			CAGCAGCAGGAGG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu		31	0	0		22	0.09	2	NM_001024630	0		0	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG			0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000040755.2		NM_004348		G	45390482	C	G	45390482	3	3	135	1	0	0	0	0	1	0	0	0	13771	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-YU-A912-01A-11D-A435-10	3651767	45390482	125724585	17	9965											
GNAT3	346562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	80141182	80141182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcctcctgaagcttttTctccagttcttttgatcttt	6	19	5	11	0	3	2	0	2	3	0	6	2	5	2	3	0	2	3	3	0	1	6			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr7:80141182T>C	ENST00000398291.3	-	1	154	c.61A>G	c.(61-63)Aaa>Gaa	p.K21E	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	21					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TGAAGCTTTTTCTCCAGTTCT	0.388																																					p.K21E													.	.			0			c.A61G												92	93	93					7																	80141182		2073	4207	6280	SO:0001583	missense	346562	exon1			GCTTTTTCTCCAG		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.61A>G	7.37:g.80141182T>C	ENSP00000381339:p.Lys21Glu		97	0	0		82	0.15	12	NM_001102386	0		0	A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487479	0.63962	.	.	ENSG00000214415	ENST00000398291	D	0.88896	-2.44	5.17	5.17	0.71159	.	0.000000	0.85682	U	0.000000	D	0.85435	0.5696	L	0.58810	1.83	0.80722	D	1	P	0.45531	0.86	B	0.37091	0.241	D	0.85547	0.1219	9	.	.	.	.	14.2716	0.66155	0.0:0.0:0.0:1.0	.	21	A8MTJ3	GNAT3_HUMAN	E	21	ENSP00000381339:K21E	.	K	-	1	0	GNAT3	79979118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.088000	0.71371	2.077000	0.62373	0.533000	0.62120	AAA			0.388	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339909.3		XM_294370		C	80141182	T	C	80141182	3	2	135	1	0	0	0	0	1	0	0	0	6527	1792	62	4	1033	4	GNAT3	7	80141182	Missense_Mutation	SNP	T	TCGA-YU-A912-01A-11D-A435-10		80141182	78997481	18	9966											
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	82389980	82389980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaatgtcctgcaggacttAgactgaatcgaaaagtttca	14	10	10	7	1	1	3	1	1	0	2	3	6	2	4	1	1	1	2	1	1	5	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr7:82389980A>G	ENST00000333891.9	-	24	15600	c.15263T>C	c.(15262-15264)cTa>cCa	p.L5088P		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						TGCAGGACTTAGACTGAATCG	0.323																																					p.L5088P													.	.			0			c.T15263C												127	127	127					7																	82389980		1829	4071	5900	SO:0001583	missense	27445	exon24			GGACTTAGACTGA	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.15263T>C	7.37:g.82389980A>G	ENSP00000334319:p.Leu5088Pro		468	0	0		398	0.17	68	NM_033026	0		0		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380789	0.42207	.	.	ENSG00000186472	ENST00000333891	T	0.09911	2.93	5.25	5.25	0.73442	.	0.177562	0.23053	U	0.052464	T	0.32645	0.0836	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.04781	-1.0927	10	0.87932	D	0	.	15.1597	0.72775	1.0:0.0:0.0:0.0	.	5088	Q9Y6V0-5	.	P	5088	ENSP00000334319:L5088P	ENSP00000334319:L5088P	L	-	2	0	PCLO	82227916	0.984000	0.35163	1.000000	0.80357	0.911000	0.54048	9.339000	0.96797	1.980000	0.57719	0.477000	0.44152	CTA			0.323	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337368.5		NM_014510		G	82389980	A	G	82389980	3	3	135	1	0	0	0	0	1	0	0	0	11600	420	15	4	173	4	PCLO	7	82389980	Missense_Mutation	SNP	A	TCGA-YU-A912-01A-11D-A435-10	2248798	82389980	76748683	19	9967											
WASL	8976	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	123388725	123388725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttctcctgcggggtgaGcaacagggaccccacgttgg	6	8	14	13	3	1	1	0	1	1	0	3	2	1	2	3	4	3	3	3	4	1	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr7:123388725G>A	ENST00000223023.4	-	1	396	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	RP11-390E23.6_ENST00000607957.1_RNA	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	22					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCGGGGTGAGCAACAGGGAC	0.662																																					p.L22F													.	.			0			c.C64T												46	43	44					7																	123388725		2203	4300	6503	SO:0001583	missense	8976	exon1			GGGTGAGCAACAG	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.64C>T	7.37:g.123388725G>A	ENSP00000223023:p.Leu22Phe		38	0	0		38	0.29	11	NM_003941	95	0.35	33	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054957	0.93793	.	.	ENSG00000106299	ENST00000223023;ENST00000536685	D	0.99912	-7.96	4.78	4.78	0.61160	Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000002	D	0.99645	0.9869	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	D	0.96289	0.9212	10	0.87932	D	0	-5.9631	16.0011	0.80292	0.0:0.0:1.0:0.0	.	22	O00401	WASL_HUMAN	F	22	ENSP00000223023:L22F	ENSP00000223023:L22F	L	-	1	0	WASL	123175961	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.509000	0.81698	2.195000	0.70347	0.460000	0.39030	CTC			0.662	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348522.1		NM_003941		A	123388725	G	A	123388725	3	1	135	1	0	0	0	0	1	0	0	0	17280	971	34	2	1497	2	WASL	7	123388725	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	40998745	123388725	35749938	20	9968											
ABCB8	11194	broad.mit.edu	37	chr7	150725641	150725641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggtcgggattcggggtggCccattcccaggcaggctgct	4	8	17	12	3	0	0	0	0	0	0	3	1	1	1	2	7	1	3	2	7	0	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr7:150725641C>T	ENST00000297504.6	+	1	105	c.39C>T	c.(37-39)ggC>ggT	p.G13G	ABCB8_ENST00000477719.1_Silent_p.G13G|ABCB8_ENST00000477092.1_Silent_p.G13G|RP11-148K1.10_ENST00000479085.1_RNA|ABCB8_ENST00000542328.1_Missense_Mutation_p.P30S|ABCB8_ENST00000498578.1_Silent_p.G13G|ABCB8_ENST00000356058.4_Silent_p.G13G|ABCB8_ENST00000358849.4_Silent_p.G13G			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	13					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TTCGGGGTGGCCCATTCCCAG	0.587											OREG0018445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G13G													.	ABCB8	65		0			c.C39T												65	59	61					7																	150725641		2203	4300	6503	SO:0001819	synonymous_variant	11194	exon1			GGGTGGCCCATTC	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.39C>T	7.37:g.150725641C>T			55	0.0363636364	2	1734	66	0.33	22	NM_007188	63	0.27	17	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		.	.	.	.	.	.	.	.	.	.	C	8.550	0.875245	0.17395	.	.	ENSG00000197150	ENST00000542328	D	0.88277	-2.36	4.99	3.2	0.36748	.	.	.	.	.	T	0.78110	0.4232	.	.	.	0.33973	D	0.647038	B	0.12013	0.005	B	0.12156	0.007	T	0.69967	-0.5001	8	0.12766	T	0.61	0.0071	7.6522	0.28354	0.0:0.8099:0.0:0.1901	.	30	G3XAP3	.	S	30	ENSP00000438776:P30S	ENSP00000438776:P30S	P	+	1	0	ABCB8	150356574	0.010000	0.17322	0.044000	0.18714	0.108000	0.19459	0.871000	0.28023	0.695000	0.31675	0.655000	0.94253	CCC			0.587	ABCB8-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351733.2		NM_007188		T	150725641	C	T	150725641	2	4	135	1	0	0	0	0	0	0	0	1	47	726	26	2		2	ABCB8	7	150725641	Silent	SNP	C	TCGA-YU-A912-01A-11D-A435-10	27336916	150725641	8413022	21	9969											
ARHGEF10	9639	mdanderson.org	37	chr8	1853876	1853876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttaatgtgtgccaccgtcaGctcacggtaagtgcataaat	11	11	10	9	2	2	0	2	0	0	0	2	0	2	0	2	1	3	4	2	1	4	3			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr8:1853876G>T	ENST00000398564.1	+	17	2036	c.2036G>T	c.(2035-2037)aGc>aTc	p.S679I	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.S678I|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S616I|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S654I|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S679I			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	679					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GCCACCGTCAGCTCACGGTAA	0.403																																					p.S654I													.	.			0			c.G1961T												129	115	120					8																	1853876		2203	4300	6503	SO:0001583	missense	9639	exon17			CCGTCAGCTCACG	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2036G>T	8.37:g.1853876G>T	ENSP00000381571:p.Ser679Ile		52	0	0		40	0.08	3	NM_014629	118	0.01	1	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	G	15.04	2.714138	0.48622	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	5.25	4.36	0.52297	.	0.096556	0.64402	D	0.000002	T	0.28134	0.0694	M	0.63428	1.95	0.80722	D	1	D;D;P	0.56035	0.974;0.967;0.523	P;P;B	0.57371	0.736;0.819;0.257	T	0.04078	-1.0979	10	0.66056	D	0.02	-28.3639	4.7397	0.13007	0.1924:0.1955:0.6121:0.0	.	679;616;654	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	I	654;616;678;679;679;327	ENSP00000340297:S654I;ENSP00000427909:S616I;ENSP00000431012:S678I;ENSP00000381571:S679I;ENSP00000262112:S679I;ENSP00000427768:S327I	ENSP00000262112:S679I	S	+	2	0	ARHGEF10	1841283	0.996000	0.38824	0.016000	0.15963	0.295000	0.27426	2.795000	0.47861	1.175000	0.42826	0.655000	0.94253	AGC			0.403	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding						T	1853876	G	T	1853876	3	4	135	1	0	0	0	0	1	0	0	0	894	971	34	2	2023	2	ARHGEF10	8	1853876	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10		1853876	144510146	22	9970											
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	77768507	77768507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggaatgaacggtccatcctCcttgccgggatttccacaaa	10	9	9	13	3	0	1	0	1	0	0	4	3	4	3	5	3	2	0	5	3	3	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr8:77768507C>T	ENST00000521891.2	+	10	9798	c.9350C>T	c.(9349-9351)tCc>tTc	p.S3117F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3072F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3091F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3072F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3072	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)			GGTCCATCCTCCTTGCCGGGA	0.502										HNSCC(33;0.089)																											p.S3117F													.	.			0			c.C9350T												35	35	35					8																	77768507		1908	4130	6038	SO:0001583	missense	79776	exon10			CATCCTCCTTGCC		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.9350C>T	8.37:g.77768507C>T	ENSP00000430497:p.Ser3117Phe		107	0	0		115	0.19	22	NM_024721	1	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224078	0.58668	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54479	0.58;0.62;0.61;0.57	5.45	5.45	0.79879	.	0.000000	0.44285	U	0.000476	T	0.71745	0.3376	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.69078	0.996;0.994;0.997	P;P;D	0.72075	0.731;0.899;0.976	T	0.70008	-0.4990	10	0.46703	T	0.11	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	3072;3072;3117	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	3117;3101;3072;3072;3091	ENSP00000430497:S3117F;ENSP00000399605:S3072F;ENSP00000050961:S3072F;ENSP00000430848:S3091F	ENSP00000050961:S3072F	S	+	2	0	ZFHX4	77931062	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.836000	0.97738	0.655000	0.94253	TCC			0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379197.2		NM_024721		T	77768507	C	T	77768507	3	4	135	1	0	0	0	0	1	0	0	0	17658	855	30	3	9384	3	ZFHX4	8	77768507	Missense_Mutation	SNP	C	TCGA-YU-A912-01A-11D-A435-10	75914631	77768507	68595515	23	9971											
RSPO2	340419	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	109094847	109094847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcagaatgatgagggcaaagGagaaaaggcgaaactgcatc	17	5	13	6	1	1	4	1	2	0	2	2	6	1	4	0	3	2	2	0	3	5	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr8:109094847G>C	ENST00000276659.5	-	2	640	c.20C>G	c.(19-21)tCc>tGc	p.S7C	RSPO2_ENST00000517939.1_5'Flank|RSPO2_ENST00000517781.1_Missense_Mutation_p.S7C|RSPO2_ENST00000378439.2_Missense_Mutation_p.S7C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	7					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GAGGGCAAAGGAGAAAAGGCG	0.612																																					p.S7C													.	.			0			c.C20G												95	87	89					8																	109094847		2203	4300	6503	SO:0001583	missense	340419	exon2			GCAAAGGAGAAAA	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.20C>G	8.37:g.109094847G>C	ENSP00000276659:p.Ser7Cys		70	0	0		65	0.15	10	NM_178565	0		0	B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105853	0.77096	.	.	ENSG00000147655	ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521956;ENST00000522333	T;T;T;T;T	0.80738	-0.99;-0.99;-1.41;-1.41;-1.41	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000006	D	0.83940	0.5363	L	0.52573	1.65	0.36688	D	0.879448	D;D	0.59357	0.985;0.985	P;P	0.52909	0.601;0.713	D	0.86547	0.1832	10	0.51188	T	0.08	-2.4878	19.1489	0.93479	0.0:0.0:1.0:0.0	.	7;7	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	C	7	ENSP00000427937:S7C;ENSP00000367698:S7C;ENSP00000276659:S7C;ENSP00000430010:S7C;ENSP00000430973:S7C	ENSP00000276659:S7C	S	-	2	0	RSPO2	109164023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.408000	0.90221	2.622000	0.88805	0.591000	0.81541	TCC			0.612	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380830.1		NM_178565		C	109094847	G	C	109094847	3	2	135	1	0	0	0	0	1	0	0	0	13733	1174	41	5	731	5	RSPO2	8	109094847	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	31326340	109094847	37269175	24	9972											
SCRIB	23513	mdanderson.org	37	chr8	144874951	144874951	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaggggggccctcggcctgGggcacgcgcacctccagctc	4	6	15	16	3	0	0	0	0	0	0	3	0	1	0	4	6	1	3	4	6	1	1			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr8:144874951G>T	ENST00000320476.3	-	30	4110	c.4104C>A	c.(4102-4104)ccC>ccA	p.P1368P	RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000356994.2_Silent_p.P1368P|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000546337.1_5'UTR|RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P1287P	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1368					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCGGCCTGGGGCACGCGCA	0.711																																					p.P1368P	Pancreas(51;966 1133 10533 14576 29674)												.	.			0			c.C4104A												18	18	18					8																	144874951		2199	4291	6490	SO:0001819	synonymous_variant	23513	exon30			GGCCTGGGGCACG	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4104C>A	8.37:g.144874951G>T			38	0	0		41	0.07	3	NM_182706	230	0	0	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	0.861	-0.735235	0.03111	.	.	ENSG00000180900	ENST00000526832	T	0.24151	1.87	4.71	-0.949	0.10376	.	.	.	.	.	T	0.19127	0.0459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22173	-1.0224	6	0.33141	T	0.24	.	0.79	0.01056	0.4152:0.1279:0.197:0.2599	.	.	.	.	T	364	ENSP00000431519:P364T	ENSP00000431519:P364T	P	-	1	0	SCRIB	144946939	0.997000	0.39634	0.133000	0.22050	0.021000	0.10359	0.269000	0.18589	-0.187000	0.10516	0.491000	0.48974	CCA			0.711	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000382215.1		NM_015356		T	144874951	G	T	144874951	2	4	135	1	0	0	0	0	0	0	0	1	13960	1219	43	3		3	SCRIB	8	144874951	Silent	SNP	G	TCGA-YU-A912-01A-11D-A435-10	35780104	144874951	1489071	25	9973											
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu	37	chr8	144940608	144940608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgcacggggtcgatgaCgaagccggtggccgcctgcg	5	6	18	12	7	0	1	0	1	0	0	1	3	0	1	3	4	3	2	3	4	1	1	rs377487212	byFrequency	TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr8:144940608C>T	ENST00000525985.1	-	2	6885	c.6814G>A	c.(6814-6816)Gtc>Atc	p.V2272I				P58107	EPIPL_HUMAN	epiplakin 1	2272						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V2272I(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)			GGGTCGATGACGAAGCCGGTG	0.716													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		65703	0		0	False		,,,				2504	0				p.V2272I													EPPK1,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	EPPK1	0	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.G6814A							C	ILE/VAL	2,4322		0,2,2160	43	41	41		6814	-1.3	1	8		41	7,8473		0,7,4233	no	missense	EPPK1	NM_031308.1	29	0,9,6393	TT,TC,CC		0.0825,0.0463,0.0703	benign	2272/2420	144940608	9,12795	2162	4240	6402	SO:0001583	missense	83481	exon1			CGATGACGAAGCC	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.6814G>A	8.37:g.144940608C>T	ENSP00000436337:p.Val2272Ile		72	0.0138888889	1		62	0.15	9	NM_031308	50	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	5.870	0.344685	0.11126	4.63E-4	8.25E-4	ENSG00000227184	ENST00000525985	T	0.63580	-0.05	4.63	-1.32	0.09201	.	.	.	.	.	T	0.23451	0.0567	N	0.00991	-1.07	0.29726	N	0.838232	B	0.24963	0.115	B	0.29598	0.104	T	0.36601	-0.9741	9	0.02654	T	1	.	4.9377	0.13948	0.0:0.4183:0.2731:0.3086	.	2272	E9PPU0	.	I	2272	ENSP00000436337:V2272I	ENSP00000436337:V2272I	V	-	1	0	EPPK1	145012596	0.000000	0.05858	0.985000	0.45067	0.968000	0.65278	-2.308000	0.01131	-0.505000	0.06568	-0.236000	0.12185	GTC			0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382675.1		NM_031308		T	144940608	C	T	144940608	3	4	135	1	0	0	0	0	1	0	0	0	5197	536	19	1	452	1	EPPK1	8	144940608	Missense_Mutation	SNP	C	TCGA-YU-A912-01A-11D-A435-10	65657	144940608	1423414	26	9974											
TTC39B	158219	mdanderson.org	37	chr9	15175099	15175099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caattcaaatagagtgaacgGcactaggtagtggtcatact	14	10	10	7	1	2	2	2	1	0	1	2	2	2	2	0	3	2	2	0	3	7	5			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr9:15175099G>T	ENST00000512701.2	-	19	1912	c.1876C>A	c.(1876-1878)Ccg>Acg	p.P626T	TTC39B_ENST00000355694.2_Missense_Mutation_p.P560T|TTC39B_ENST00000380850.4_Missense_Mutation_p.P613T|TTC39B_ENST00000297615.5_Missense_Mutation_p.P557T|TTC39B_ENST00000507993.1_Missense_Mutation_p.P461T|TTC39B_ENST00000507285.1_Missense_Mutation_p.P461T			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	626										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AGAGTGAACGGCACTAGGTAG	0.373																																					p.P626T													.	.			0			c.C1876A												96	91	93					9																	15175099		2203	4300	6503	SO:0001583	missense	158219	exon19			TGAACGGCACTAG	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1876C>A	9.37:g.15175099G>T	ENSP00000422496:p.Pro626Thr		64	0	0		40	0.08	3	NM_152574	11	0	0	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146388	0.77888	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.75050	-0.9;1.11;0.79;0.79;1.11;1.11	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88742	0.6519	M	0.87269	2.87	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;0.988;0.997;0.999	D	0.89940	0.4072	10	0.87932	D	0	-15.9572	19.4919	0.95054	0.0:0.0:1.0:0.0	.	557;613;558;560;143	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	T	613;557;560;626;461;461	ENSP00000370231:P613T;ENSP00000297615:P557T;ENSP00000347920:P560T;ENSP00000422496:P626T;ENSP00000426539:P461T;ENSP00000423392:P461T	ENSP00000297615:P557T	P	-	1	0	TTC39B	15165099	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.483000	0.81158	2.691000	0.91804	0.655000	0.94253	CCG			0.373	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051758.3		NM_152574		T	15175099	G	T	15175099	3	4	135	1	0	0	0	0	1	0	0	0	16732	1203	42	2	180	2	TTC39B	9	15175099	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10		15175099	126038332	27	9975											
SLC28A3	64078	mdanderson.org	37	chr9	86917157	86917157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttagaagccttctgccaGgagacagcatctcatcaatt	11	12	8	10	0	3	2	2	0	2	2	4	3	3	2	2	1	3	2	2	1	3	4			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr9:86917157G>T	ENST00000376238.4	-	5	531	c.482C>A	c.(481-483)cCt>cAt	p.P161H	SLC28A3_ENST00000537648.1_Missense_Mutation_p.P92H	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	161					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CCTTCTGCCAGGAGACAGCAT	0.453																																					p.P161H	Ovarian(106;425 1539 34835 42413 43572)												.	.			0			c.C482A												118	109	112					9																	86917157		2203	4300	6503	SO:0001583	missense	64078	exon5			CTGCCAGGAGACA	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.482C>A	9.37:g.86917157G>T	ENSP00000365413:p.Pro161His		95	0	0		52	0.06	3	NM_001199633	4	0	0	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718799	0.48622	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.02032	4.66;4.49	5.33	5.33	0.75918	.	0.053822	0.85682	D	0.000000	T	0.12944	0.0314	M	0.75777	2.31	0.44254	D	0.997101	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.00033	-1.2269	10	0.87932	D	0	-17.6183	17.9616	0.89087	0.0:0.0:1.0:0.0	.	92;161	B4E2S8;Q9HAS3	.;S28A3_HUMAN	H	161;92	ENSP00000365413:P161H;ENSP00000446438:P92H	ENSP00000365413:P161H	P	-	2	0	SLC28A3	86106977	1.000000	0.71417	0.902000	0.35471	0.048000	0.14542	4.676000	0.61627	2.775000	0.95449	0.655000	0.94253	CCT			0.453	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000052874.1		NM_022127		T	86917157	G	T	86917157	3	4	135	1	0	0	0	0	1	0	0	0	14556	1000	35	3	1649	3	SLC28A3	9	86917157	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	71742058	86917157	54296274	28	9976											
CRB2	286204	mdanderson.org	37	chr9	126129537	126129537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgcctgcagcgctctGacccggccctctacgggggt	4	7	14	16	4	2	1	0	1	2	0	2	2	2	1	4	3	4	2	4	3	1	1			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr9:126129537G>T	ENST00000373631.3	+	5	842	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	CRB2_ENST00000359999.3_Missense_Mutation_p.D281Y|CRB2_ENST00000373629.2_5'Flank	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	281	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCAGCGCTCTGACCCGGCCCT	0.692																																					p.D281Y													.	.			0			c.G841T												35	42	39					9																	126129537		2202	4300	6502	SO:0001583	missense	286204	exon5			CGCTCTGACCCGG	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.841G>T	9.37:g.126129537G>T	ENSP00000362734:p.Asp281Tyr		37	0	0		20	0.15	3	NM_173689	0		0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212503	0.58452	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.88277	-2.36;-2.36	5.1	1.81	0.25067	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.441144	0.19072	N	0.123471	D	0.90222	0.6943	M	0.68728	2.09	0.80722	D	1	D;D	0.64830	0.994;0.993	P;P	0.58873	0.751;0.847	D	0.87358	0.2342	10	0.56958	D	0.05	.	5.446	0.16535	0.503:0.0:0.497:0.0	.	281;281	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	Y	281	ENSP00000353092:D281Y;ENSP00000362734:D281Y	ENSP00000353092:D281Y	D	+	1	0	CRB2	125169358	0.985000	0.35326	0.434000	0.26772	0.953000	0.61014	2.394000	0.44450	0.553000	0.29044	-0.152000	0.13540	GAC			0.692	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053990.3		NM_173689		T	126129537	G	T	126129537	3	4	135	1	0	0	0	0	1	0	0	0	3851	1290	45	3	859	3	CRB2	9	126129537	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	39212380	126129537	15083894	29	9977											
SEC16A	9919	mdanderson.org	37	chr9	139336215	139336215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagggcaagcctagttcaGcaccaggtgcttcctctggc	8	8	12	13	0	2	0	1	0	1	0	3	0	3	0	3	3	4	5	3	3	2	3			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr9:139336215G>T	ENST00000371706.3	-	28	6430	c.6397C>A	c.(6397-6399)Ctg>Atg	p.L2133M	SEC16A_ENST00000313084.5_Missense_Mutation_p.L384M|SEC16A_ENST00000467838.1_5'UTR|INPP5E_ENST00000371712.3_5'Flank|SEC16A_ENST00000431893.2_Missense_Mutation_p.L2153M|SEC16A_ENST00000313050.7_Missense_Mutation_p.L2356M|SEC16A_ENST00000290037.6_Missense_Mutation_p.L2158M			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2178	Required for interaction with SEC23A.				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)		GCCTAGTTCAGCACCAGGTGC	0.627																																					p.L2356M													.	.			0			c.C7066A												68	82	77					9																	139336215		2118	4228	6346	SO:0001583	missense	9919	exon32			AGTTCAGCACCAG	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	ENST00000371706.3:c.6397C>A	9.37:g.139336215G>T	ENSP00000360771:p.Leu2133Met		85	0	0		52	0.06	3	NM_014866	78	0	0	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.983006|2.983006	0.53827|0.53827	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000433860|ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000313084;ENST00000537660;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.|T;T;T;T;T;T	.|0.53423	.|1.57;0.62;1.17;1.49;1.55;1.52	5.5|5.5	-7.51|-7.51	0.01346|0.01346	.|.	.|0.330438	.|0.26979	.|N	.|0.021522	T|T	0.59115|0.59115	0.2170|0.2170	M|M	0.63843|0.63843	1.955|1.955	0.52501|0.52501	D|D	0.99995|0.99995	.|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	.|D;D;D;D;D;D;D;D;D	.|0.91635	.|0.999;0.998;0.999;0.999;0.998;0.997;0.999;0.999;0.999	T|T	0.71258|0.71258	-0.4646|-0.4646	5|10	.|0.87932	.|D	.|0	-2.8616|-2.8616	16.1623|16.1623	0.81730|0.81730	0.7599:0.0:0.2401:0.0|0.7599:0.0:0.2401:0.0	.|.	.|196;2333;2200;2153;1726;2178;733;384;199	.|B4DY06;F1T0I1;O15027-5;O15027-4;A4QN19;O15027;C9JVR0;Q8N9G1;F6VLX6	.|.;.;.;.;.;SC16A_HUMAN;.;.;.	D|M	504|2356;750;1058;2133;384;199;2158;2153;1726;733	.|ENSP00000325827:L2356M;ENSP00000277537:L750M;ENSP00000403525:L1058M;ENSP00000360771:L2133M;ENSP00000290037:L2158M;ENSP00000387583:L2153M	.|ENSP00000277537:L750M	A|L	-|-	2|1	0|2	SEC16A|SEC16A	138456036|138456036	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.793000|-0.793000	0.04589|0.04589	-1.728000|-1.728000	0.01366|0.01366	-0.389000|-0.389000	0.06534|0.06534	GCT|CTG			0.627	SEC16A-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000055077.1		XM_088459		T	139336215	G	T	139336215	3	4	135	1	0	0	0	0	1	0	0	0	14009	962	34	2	11	2	SEC16A	9	139336215	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	13206678	139336215	1877216	30	9978											
EHMT1	79813	mdanderson.org	37	chr9	140729282	140729282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcttcagctgccgctgCggctcccccaagtgccggca	6	7	11	17	3	2	0	1	0	1	0	3	0	3	0	4	2	5	5	4	2	2	1	rs371136319		TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr9:140729282C>T	ENST00000460843.1	+	27	3801	c.3774C>T	c.(3772-3774)tgC>tgT	p.C1258C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1258					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCTGCCGCTGCGGCTCCCCCA	0.672													C|||	1	0.000199681	0	0	5008	,	,		10529	0.001		0	False		,,,				2504	0				p.C1258C													.	.			0			c.C3774T							C		0,4406		0,0,2203	32	30	30		3774	-4.7	0.9	9		30	1,8593		0,1,4296	no	coding-synonymous	EHMT1	NM_024757.4		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		1258/1299	140729282	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	79813	exon27			CCGCTGCGGCTCC	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3774C>T	9.37:g.140729282C>T			84	0	0		54	0.06	3	NM_024757	83	0	0	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	CCDS7050.2																																																																																					0.672	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055371.2		NM_024757		T	140729282	C	T	140729282	2	4	135	1	0	0	0	0	0	0	0	1	4988	776	27	1		1	EHMT1	9	140729282	Silent	SNP	C	TCGA-YU-A912-01A-11D-A435-10	1393067	140729282	484149	31	9979											
C10orf140	387640	mdanderson.org	37	chr10	21806056	21806056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcagcagcGgcggcggcggcggcggcggc	2	0	25	14	11	0	0	0	0	0	0	0	0	0	0	0	11	2	2	0	11	0	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr10:21806056G>A	ENST00000449193.2	-	4	2948	c.696C>T	c.(694-696)gcC>gcT	p.A232A	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Intron	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	232	Ala-rich.			Missing (in Ref. 2; BAD18601). {ECO:0000305}.		nucleus (GO:0005634)											cggcagcagcggcggcggcgg	0.766																																					p.A232A													.	.			0			c.C696T												1	1	1					10																	21806056		64	241	305	SO:0001819	synonymous_variant	387640	exon4			AGCAGCGGCGGCG	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.696C>T	10.37:g.21806056G>A			15	0	0		19	0.11	2	NM_207371	0		0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.766	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		A	21806056	G	A	21806056	2	1	135	1	0	0	0	0	0	0	0	1	1597	1103	39	1		1	C10orf140	10	21806056	Silent	SNP	G	TCGA-YU-A912-01A-11D-A435-10		21806056	113728691	32	9980											
PDE3B	5140	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	14666502	14666502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatccgaccccggaggaGgtccagctgcgtgtcgttag	6	9	15	11	4	0	1	0	1	0	0	3	4	2	3	4	3	2	2	4	3	1	1			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr11:14666502G>T	ENST00000282096.4	+	1	1234	c.881G>T	c.(880-882)aGg>aTg	p.R294M	PDE3B_ENST00000534317.1_3'UTR|PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Missense_Mutation_p.R294M	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	294					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CCCCGGAGGAGGTCCAGCTGC	0.522																																					p.R294M													.	PDE3B	98		0			c.G881T												52	57	56					11																	14666502		2200	4294	6494	SO:0001583	missense	5140	exon1			GGAGGAGGTCCAG	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.881G>T	11.37:g.14666502G>T	ENSP00000282096:p.Arg294Met		132	0	0		79	0.06	5	NM_000922	5	0	0	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131129	0.94473	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.73897	-0.58;-0.79	4.83	4.83	0.62350	.	14.878900	0.00166	N	0.000000	D	0.88607	0.6482	M	0.70275	2.135	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.996;0.998	T	0.73780	-0.3875	10	0.87932	D	0	.	16.9104	0.86139	0.0:0.0:1.0:0.0	.	294;294;294	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	M	294	ENSP00000282096:R294M;ENSP00000388644:R294M	ENSP00000282096:R294M	R	+	2	0	PDE3B	14623078	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.134000	0.94467	2.238000	0.73509	0.557000	0.71058	AGG			0.522	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000386974.1		NM_000922		T	14666502	G	T	14666502	3	4	135	1	0	0	0	0	1	0	0	0	11655	1000	35	3	883	3	PDE3B	11	14666502	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10		14666502	120340014	33	9981											
WNT11	7481	mdanderson.org	37	chr11	75905750	75905750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgcacatcctccccagCggttcccgggcccgggtggc	3	7	13	18	4	0	0	0	0	0	0	4	0	4	0	6	4	1	2	6	4	0	1			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr11:75905750C>T	ENST00000322563.3	-	3	582	c.458G>A	c.(457-459)cGc>cAc	p.R153H	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	153					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						TCCTCCCCAGCGGTTCCCGGG	0.667																																					p.R153H													.	.			0			c.G458A												30	26	27					11																	75905750		1882	3716	5598	SO:0001583	missense	7481	exon3			CCCCAGCGGTTCC	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.458G>A	11.37:g.75905750C>T	ENSP00000325526:p.Arg153His		81	0	0		48	0.06	3	NM_004626	1	0	0	B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539338	0.65085	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.75938	-0.98	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	N	0.25245	0.725	0.80722	D	1	P	0.47545	0.897	B	0.37650	0.255	T	0.69194	-0.5209	10	0.56958	D	0.05	.	17.1651	0.86814	0.0:1.0:0.0:0.0	.	153	O96014	WNT11_HUMAN	H	153	ENSP00000325526:R153H	ENSP00000325526:R153H	R	-	2	0	WNT11	75583398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.923000	0.56469	2.287000	0.76781	0.555000	0.69702	CGC			0.667	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383083.1		NM_004626		T	75905750	C	T	75905750	3	4	135	1	0	0	0	0	1	0	0	0	17408	768	27	1	618	1	WNT11	11	75905750	Missense_Mutation	SNP	C	TCGA-YU-A912-01A-11D-A435-10	61239248	75905750	59100766	34	9982											
SYTL2	54843	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	85415906	85415906	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattccggactcaccttccGcttcagagggtaccatctca	10	10	7	14	2	3	1	3	0	1	1	6	2	5	2	4	2	1	2	4	2	2	4	rs374075595		TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr11:85415906G>T	ENST00000528231.1	-	14	2546	c.2269C>A	c.(2269-2271)Cgg>Agg	p.R757R	SYTL2_ENST00000533892.1_Silent_p.R159R|SYTL2_ENST00000525702.1_Silent_p.R199R|SYTL2_ENST00000389960.4_Silent_p.R733R|SYTL2_ENST00000389958.3_Silent_p.R188R|SYTL2_ENST00000525423.1_Silent_p.R1079R|SYTL2_ENST00000316356.4_Silent_p.R758R|SYTL2_ENST00000359152.5_Silent_p.R1603R|SYTL2_ENST00000354566.3_Silent_p.R1095R|SYTL2_ENST00000527523.1_Silent_p.R725R|SYTL2_ENST00000524452.1_Silent_p.R733R|SYTL2_ENST00000529581.1_Silent_p.R199R	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	757					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)		CTCACCTTCCGCTTCAGAGGG	0.383																																					p.R1095R													.	.			0			c.C3283A												161	152	155					11																	85415906		2203	4299	6502	SO:0001819	synonymous_variant	54843	exon9			CCTTCCGCTTCAG	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.2269C>A	11.37:g.85415906G>T			160	0	0		115	0.04	5	NM_206927	7	0	0	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																					0.383	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000392192.1		NM_206927		T	85415906	G	T	85415906	2	4	135	1	0	0	0	0	0	0	0	1	15506	1086	38	1		1	SYTL2	11	85415906	Silent	SNP	G	TCGA-YU-A912-01A-11D-A435-10	9510156	85415906	49590610	35	9983											
DDX11	1663	mdanderson.org	37	chr12	31255198	31255198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattccaggaacctaagagcGcacaccaggtggagcaggtg	12	6	13	10	1	0	1	0	0	0	1	1	3	1	3	3	4	3	2	3	4	3	3	rs558229319	byFrequency	TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr12:31255198G>A	ENST00000407793.2	+	22	2475	c.2224G>A	c.(2224-2226)Gca>Aca	p.A742T	DDX11_ENST00000228264.6_Missense_Mutation_p.A716T|DDX11_ENST00000350437.4_Missense_Mutation_p.A692T|DDX11_ENST00000545668.1_Missense_Mutation_p.A742T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.A742T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	742					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACCTAAGAGCGCACACCAGGT	0.577										Multiple Myeloma(12;0.14)			G|||	2	0.000399361	0.0015	0	5008	,	,		20797	0		0	False		,,,				2504	0				p.A742T													.	.			0			c.G2224A												71	79	77					12																	31255198		2203	4300	6503	SO:0001583	missense	1663	exon22			AAGAGCGCACACC	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2224G>A	12.37:g.31255198G>A	ENSP00000384703:p.Ala742Thr		203	0	0		375	0.04	16	NM_030653	307	0.03	9	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501187	0.44455	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	3.85	2.95	0.34219	Helicase, ATP-dependent, c2 type (1);	0.239301	0.43110	N	0.000612	D	0.93074	0.7795	M	0.67397	2.05	0.80722	D	1	B;B;D;B	0.76494	0.142;0.363;0.999;0.142	B;B;P;B	0.61477	0.055;0.088;0.889;0.055	D	0.89925	0.4062	10	0.21540	T	0.41	.	9.1836	0.37156	0.1094:0.0:0.8906:0.0	.	716;742;692;742	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	742;742;467;716;742;692	ENSP00000443426:A742T;ENSP00000384703:A742T;ENSP00000228264:A716T;ENSP00000440402:A742T;ENSP00000309965:A692T	ENSP00000228264:A716T	A	+	1	0	DDX11	31146465	1.000000	0.71417	0.282000	0.24776	0.283000	0.27025	2.073000	0.41519	0.824000	0.34613	-0.198000	0.12761	GCA			0.577	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653		A	31255198	G	A	31255198	3	1	135	1	0	0	0	0	1	0	0	0	4345	1087	38	1	2306	1	DDX11	12	31255198	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10		31255198	102596697	36	9984											
KIF21A	55605	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	3	17	1	20	0	5	1	2	1	3	0	13	1	12	1	7	0	0	0	7	0	0	3			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					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)	p.E602D(1)|p.E602E(1)		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)				cctcctcctcctcttcttcat	0.398																																					p.E615E													KIF21A,NS,carcinoma,0,2	KIF21A	0	2	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)	c.G1845A												85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605	exon14			CTCCTCCTCTTCT	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.1845G>A	12.37:g.39735383C>T			136	0	0		146	0.04	6	NM_001173464	17	0	0	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1																																																																																					0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403581.1		NM_017641		T	39735383	C	T	39735383	2	4	135	1	0	0	0	0	0	0	0	1	8303	680	24	3		3	KIF21A	12	39735383	Silent	SNP	C	TCGA-YU-A912-01A-11D-A435-10	8480185	39735383	94116512	37	9985											
KIAA0748	9840	broad.mit.edu	37	chr12	55354957	55354957	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcccacttacttcacGagtctttgccagcaaaagtc	11	9	9	12	1	2	1	1	0	1	1	3	3	2	1	2	1	3	1	2	1	3	3			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr12:55354957G>T	ENST00000449076.1	-	10	1694	c.1562C>A	c.(1561-1563)tCg>tAg	p.S521*	TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Nonsense_Mutation_p.S383*|TESPA1_ENST00000524622.1_Nonsense_Mutation_p.S383*|TESPA1_ENST00000531122.1_Nonsense_Mutation_p.S383*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.S521*	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	521					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)											CTTACTTCACGAGTCTTTGCC	0.498																																					p.S521X													.	.			0			c.C1562A												132	156	148					12																	55354957		2184	4290	6474	SO:0001587	stop_gained	9840	exon10			CTTCACGAGTCTT	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.1562C>A	12.37:g.55354957G>T	ENSP00000400892:p.Ser521*		143	0	0		125	0.03	4	NM_001098815	8	0	0	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Nonsense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581348	0.86748	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	.	.	.	3.96	1.17	0.20885	.	1.380920	0.05103	N	0.487501	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1551	6.581	0.22594	0.309:0.0:0.691:0.0	.	.	.	.	X	383;383;521;521;383	.	ENSP00000312679:S521X	S	-	2	0	KIAA0748	53641224	0.005000	0.15991	0.004000	0.12327	0.016000	0.09150	0.181000	0.16880	0.253000	0.21552	-0.992000	0.02543	TCG			0.498	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000383822.1		NM_001098815		T	55354957	G	T	55354957	4	4	135	1	0	0	0	0	0	1	0	0	8205	1059	37	1	7	1	KIAA0748	12	55354957	Nonsense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	15619574	55354957	78496938	38	9986											
SPRYD4	283377	broad.mit.edu	37	chr12	56862413	56862413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgttctttgcgcttgtgccGctggggagccaaacgattgg	6	11	14	10	4	1	0	0	0	1	0	1	2	1	1	2	3	4	3	2	3	1	4	rs142431089		TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr12:56862413G>T	ENST00000338146.5	+	1	113	c.38G>T	c.(37-39)cGc>cTc	p.R13L	MIP_ENST00000555551.1_Intron	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	13	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						CGCTTGTGCCGCTGGGGAGCC	0.557																																					p.R13L													.	SPRYD4	13		0			c.G38T												135	125	128					12																	56862413		2203	4300	6503	SO:0001583	missense	283377	exon1			TGTGCCGCTGGGG	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.38G>T	12.37:g.56862413G>T	ENSP00000338034:p.Arg13Leu		74	0	0		114	0.04	4	NM_207344	28	0	0	A8K7A5	Missense_Mutation	SNP	ENST00000338146.5	37	CCDS8920.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970329	0.53614	.	.	ENSG00000176422	ENST00000338146	T	0.63096	-0.02	5.57	0.0595	0.14332	B30.2/SPRY domain (1);	0.682102	0.15367	N	0.266062	T	0.43166	0.1235	L	0.44542	1.39	0.21719	N	0.999577	B	0.02656	0.0	B	0.04013	0.001	T	0.15378	-1.0439	10	0.25751	T	0.34	-1.0655	0.911	0.01295	0.1878:0.1494:0.3565:0.3062	.	13	Q8WW59	SPRY4_HUMAN	L	13	ENSP00000338034:R13L	ENSP00000338034:R13L	R	+	2	0	SPRYD4	55148680	0.003000	0.15002	0.393000	0.26258	0.961000	0.63080	-0.067000	0.11579	0.340000	0.23745	0.563000	0.77884	CGC			0.557	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_207344		T	56862413	G	T	56862413	3	4	135	1	0	0	0	0	1	0	0	0	15133	1087	38	1	40	1	SPRYD4	12	56862413	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	1507456	56862413	76989482	39	9987											
LTB4R	1241	broad.mit.edu	37	chr14	24785074	24785074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtattgctcactgctcccTttttccttcacttcctggcc	3	16	5	17	1	2	0	2	0	0	0	5	0	5	0	5	1	2	3	5	1	1	6			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	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																																					p.F73L													.	LTB4R	18		0			c.T217C												183	163	170					14																	24785074		2203	4300	6503	SO:0001583	missense	1241	exon2			GCTCCCTTTTTCC	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		123	0	0		88	0.03	3	NM_181657	9	0	0	Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	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				C	24785074	T	C	24785074	3	2	135	1	0	0	0	0	1	0	0	0	9087	1609	56	4	219	4	LTB4R	14	24785074	Missense_Mutation	SNP	T	TCGA-YU-A912-01A-11D-A435-10		24785074	82564466	40	9988											
MESP2	145873	broad.mit.edu;mdanderson.org	37	chr15	90320173	90320173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaagggcaggggcaaggAcaggggcaaggacaggggca	12	0	22	7	0	0	0	0	0	0	0	0	2	0	2	0	10	0	5	0	10	3	0	rs113636330		TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr15:90320173A>G	ENST00000341735.3	+	1	585	c.585A>G	c.(583-585)ggA>ggG	p.G195G	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			aggggcaaggacaggggcaag	0.781																																					p.G195G													.	MESP2	20		0			c.A585G												3	5	4					15																	90320173		1538	3548	5086	SO:0001819	synonymous_variant	145873	exon1			GCAAGGACAGGGG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.585A>G	15.37:g.90320173A>G			34	0	0		37	0.11	4	NM_001039958	0		0	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																					0.781	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416421.1		XM_085261		G	90320173	A	G	90320173	2	3	135	1	0	0	0	0	0	0	0	1	9499	262	10	4		4	MESP2	15	90320173	Silent	SNP	A	TCGA-YU-A912-01A-11D-A435-10		90320173	12211219	41	9989											
UBN1	29855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	4903071	4903071	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcggattacactcaccctCtttgaaccagatcacaaacg	12	10	6	13	2	3	2	2	1	1	1	4	3	3	3	2	1	3	1	2	1	3	3			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr16:4903071C>G	ENST00000396658.4	+	1	856	c.153C>G	c.(151-153)ctC>ctG	p.L51L	UBN1_ENST00000545171.1_Silent_p.L51L|UBN1_ENST00000262376.6_Silent_p.L51L|UBN1_ENST00000590769.1_Silent_p.L51L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	51	Sufficient for interaction with HIRA.				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						CACTCACCCTCTTTGAACCAG	0.537																																					p.L51L													.	.			0			c.C153G												88	85	86					16																	4903071		2197	4300	6497	SO:0001819	synonymous_variant	29855	exon2			CACCCTCTTTGAA	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.153C>G	16.37:g.4903071C>G			89	0	0		71	0.13	9	NM_001079514	57	0.3	17	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	CCDS10525.1																																																																																					0.537	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251719.1		NM_016936		G	4903071	C	G	4903071	2	3	135	1	0	0	0	0	0	0	0	1	16916	900	32	5		5	UBN1	16	4903071	Silent	SNP	C	TCGA-YU-A912-01A-11D-A435-10		4903071	85451682	42	9990											
UBN1	29855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	4927071	4927071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggatgccatcgtcaCaggccctgcccccgggtcct	6	7	10	18	2	1	0	1	0	0	0	4	1	3	1	6	3	2	0	6	3	1	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr16:4927071C>G	ENST00000396658.4	+	15	3927	c.3224C>G	c.(3223-3225)aCa>aGa	p.T1075R	UBN1_ENST00000545171.1_Missense_Mutation_p.T1075R|UBN1_ENST00000262376.6_Missense_Mutation_p.T1075R|UBN1_ENST00000590769.1_Missense_Mutation_p.T1075R	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1075					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						GCCATCGTCACAGGCCCTGCC	0.577																																					p.T1075R													.	.			0			c.C3224G												147	154	151					16																	4927071		2197	4300	6497	SO:0001583	missense	29855	exon16			TCGTCACAGGCCC	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.3224C>G	16.37:g.4927071C>G	ENSP00000379894:p.Thr1075Arg		48	0	0		54	0.3	16	NM_001079514	106	0.39	41	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562516	0.86335	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.54279	1.29;0.58;1.29	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.71221	0.3314	L	0.60455	1.87	0.46222	D	0.998932	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.71230	-0.4654	10	0.66056	D	0.02	-15.6907	19.6982	0.96039	0.0:1.0:0.0:0.0	.	1075;1075	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	R	1075	ENSP00000262376:T1075R;ENSP00000442379:T1075R;ENSP00000379894:T1075R	ENSP00000262376:T1075R	T	+	2	0	UBN1	4867072	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.508000	0.67006	2.894000	0.99253	0.655000	0.94253	ACA			0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251719.1		NM_016936		G	4927071	C	G	4927071	3	3	135	1	0	0	0	0	1	0	0	0	16916	478	17	5	3282	5	UBN1	16	4927071	Missense_Mutation	SNP	C	TCGA-YU-A912-01A-11D-A435-10	24000	4927071	85427682	43	9991											
ABCA6	23460	broad.mit.edu	37	chr17	67124787	67124787	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccagtagtaaaggcaaaAgggctacaaatattcaaaat	19	9	7	6	0	1	0	1	0	0	0	2	0	2	0	1	2	1	4	1	2	10	6			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr17:67124787A>G	ENST00000284425.2	-	8	1266	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	364					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)					TAAAGGCAAAAGGGCTACAAA	0.373																																					p.P364P													.	ABCA6	210		0			c.T1092C												88	88	88					17																	67124787		2203	4300	6503	SO:0001819	synonymous_variant	23460	exon8			GGCAAAAGGGCTA	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.1092T>C	17.37:g.67124787A>G			176	0	0		146	0.03	4	NM_080284	0		0	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																					0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450463.1		NM_080284		G	67124787	A	G	67124787	2	3	135	1	0	0	0	0	0	0	0	1	36	59	3	4		4	ABCA6	17	67124787	Silent	SNP	A	TCGA-YU-A912-01A-11D-A435-10		67124787	14070423	44	9992											
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	1061799	1061799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttttgggctgctgggtGtgaatggagcagggaagacg	8	10	19	4	1	0	2	0	1	0	1	0	4	0	4	0	4	2	4	0	4	2	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:1061799G>A	ENST00000263094.6	+	41	5713	c.5482G>A	c.(5482-5484)Gtg>Atg	p.V1828M	ABCA7_ENST00000435683.2_Missense_Mutation_p.V1690M|ABCA7_ENST00000433129.1_Missense_Mutation_p.V1828M	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1828	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGGGTGTGAATGGAGC	0.577																																					p.V1828M													.	.			0			c.G5482A												113	93	100					19																	1061799		2203	4300	6503	SO:0001583	missense	10347	exon41			CTGGGTGTGAATG	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5482G>A	19.37:g.1061799G>A	ENSP00000263094:p.Val1828Met		106	0	0		127	0.24	31	NM_019112	23	0.09	2	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630712	0.67015	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.93763	-3.28;-3.28	3.57	2.47	0.30058	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.91771	0.7397	L	0.41906	1.305	0.42088	D	0.99128	D;P	0.56035	0.974;0.807	P;B	0.52343	0.696;0.212	D	0.91377	0.5124	9	0.66056	D	0.02	.	10.1039	0.42521	0.1073:0.0:0.8927:0.0	.	953;1828	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	M	1828	ENSP00000263094:V1828M;ENSP00000414062:V1828M	ENSP00000263094:V1828M	V	+	1	0	ABCA7	1012799	1.000000	0.71417	0.979000	0.43373	0.805000	0.45488	5.849000	0.69465	1.809000	0.52856	0.561000	0.74099	GTG			0.577	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000394993.1		NM_019112		A	1061799	G	A	1061799	3	1	135	1	0	0	0	0	1	0	0	0	37	1377	48	3	5640	3	ABCA7	19	1061799	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10		1061799	58067184	45	9993											
FAM108A1	81926	hgsc.bcm.edu	37	chr19	1881263	1881263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgcagcgaacatacatGcaggagacgcggttgccgcg	10	4	15	12	6	0	1	0	0	0	1	0	3	0	1	1	3	5	4	1	3	2	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000250974.9_Silent_p.C101C|ABHD17A_ENST00000590661.1_Silent_p.C101C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	101						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.C101C(3)									GAACATACATGCAGGAGACGC	0.662																																					p.C101C													FAM108A1,NS,carcinoma,0,2	FAM108A1	0	2	3	Substitution - coding silent(3)	lung(2)|endometrium(1)	c.C303T												35	39	38					19																	1881263		2202	4299	6501	SO:0001819	synonymous_variant	81926	exon2			ATACATGCAGGAG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.303C>T	19.37:g.1881263G>A			43	0.023255814	1		65	0.05	3	NM_031213	203	0	0	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																					0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415556.2		NM_031213		A	1881263	G	A	1881263	2	1	135	1	0	0	0	0	0	0	0	1	5401	1311	46	2		2	FAM108A1	19	1881263	Silent	SNP	G	TCGA-YU-A912-01A-11D-A435-10	819464	1881263	57247720	46	9994											
EVI5L	115704	mdanderson.org	37	chr19	7927017	7927017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccccccaggcccatctgGcccgcggcggccgctggaag	5	4	13	19	4	2	0	1	0	1	0	2	1	2	1	6	5	0	1	6	5	1	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:7927017G>T	ENST00000270530.4	+	15	1817	c.1621G>T	c.(1621-1623)Gcc>Tcc	p.A541S	EVI5L_ENST00000538904.2_Missense_Mutation_p.A552S	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	541					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						GGCCCATCTGGCCCGCGGCGG	0.746																																					p.A552S													.	.			0			c.G1654T												3	4	3					19																	7927017		1766	3718	5484	SO:0001583	missense	115704	exon15			CATCTGGCCCGCG	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.1621G>T	19.37:g.7927017G>T	ENSP00000270530:p.Ala541Ser		27	0.037037037	1		20	0.1	2	NM_001159944	13	0	0	B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	G	4.844	0.156893	0.09236	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.28895	1.59;1.59	4.29	3.27	0.37495	.	0.058387	0.64402	N	0.000001	T	0.10680	0.0261	N	0.03115	-0.41	0.25924	N	0.983072	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34750	-0.9816	10	0.02654	T	1	-31.5486	9.018	0.36182	0.0:0.0:0.1985:0.8015	.	552;541	B9A6I9;Q96CN4	.;EVI5L_HUMAN	S	541;552	ENSP00000270530:A541S;ENSP00000445905:A552S	ENSP00000270530:A541S	A	+	1	0	EVI5L	7833017	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.743000	0.26231	0.709000	0.31976	-0.397000	0.06425	GCC			0.746	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000461347.1		NM_145245		T	7927017	G	T	7927017	3	4	135	1	0	0	0	0	1	0	0	0	5297	1203	42	2	1712	2	EVI5L	19	7927017	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	6045754	7927017	51201966	47	9995											
ZNF441	126068	mdanderson.org	37	chr19	11891239	11891239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcgtatatgtaagttGtgtggaaacgcctttatttg	9	15	11	6	2	0	0	0	0	0	0	1	2	0	2	2	2	1	3	2	2	5	7			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:11891239G>T	ENST00000357901.4	+	4	702	c.600G>T	c.(598-600)ttG>ttT	p.L200F	ZNF441_ENST00000454339.2_Missense_Mutation_p.L133F	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	200					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(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATGTAAGTTGTGTGGAAACG	0.398																																					p.L200F													.	.			0			c.G600T												155	145	148					19																	11891239		2203	4300	6503	SO:0001583	missense	126068	exon4			TAAGTTGTGTGGA	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.600G>T	19.37:g.11891239G>T	ENSP00000350576:p.Leu200Phe		118	0	0		129	0.04	5	NM_152355	1	0	0		Missense_Mutation	SNP	ENST00000357901.4	37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	g	8.671	0.902924	0.17760	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.15718	2.4;2.4	1.04	-2.08	0.07254	Zinc finger, C2H2 (1);	.	.	.	.	T	0.07279	0.0184	N	0.10760	0.04	0.09310	N	0.999999	B	0.11235	0.004	B	0.14578	0.011	T	0.29243	-1.0018	9	0.66056	D	0.02	.	3.305	0.06997	0.5753:0.0:0.2418:0.1829	.	200	Q8N8Z8	ZN441_HUMAN	F	156;200;133	ENSP00000350576:L200F;ENSP00000403738:L133F	ENSP00000350576:L200F	L	+	3	2	ZNF441	11752239	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-7.118000	0.00044	-1.548000	0.01712	-0.680000	0.03767	TTG			0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335273.3		NM_152355		T	11891239	G	T	11891239	3	4	135	1	0	0	0	0	1	0	0	0	17937	1368	48	3	614	3	ZNF441	19	11891239	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	3964222	11891239	47237744	48	9996											
MED26	9441	bcgsc.ca	37	chr19	16687978	16687978	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcgcacggcgttgacgggGatcttgccactgtgcttgtc	4	11	15	11	4	1	1	0	1	1	0	3	2	1	2	1	4	2	3	1	4	0	3			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:16687978G>T	ENST00000263390.3	-	3	925	c.663C>A	c.(661-663)atC>atA	p.I221I	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Silent_p.I229I	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	221					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CGTTGACGGGGATCTTGCCAC	0.667																																					p.I221I													.	MED26	25		0			c.C663A												47	52	50					19																	16687978		2203	4300	6503	SO:0001819	synonymous_variant	9441	exon3			GACGGGGATCTTG	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.663C>A	19.37:g.16687978G>T			87	0	0		84	0.06	5	NM_004831	40	0	0	A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	CCDS12347.1																																																																																					0.667	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461178.1		NM_004831		T	16687978	G	T	16687978	2	4	135	1	0	0	0	0	0	0	0	1	9460	1164	41	3		3	MED26	19	16687978	Silent	SNP	G	TCGA-YU-A912-01A-11D-A435-10	4796739	16687978	42441005	49	9997											
USHBP1	83878	mdanderson.org	37	chr19	17366295	17366295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcccgttcccaccgcaGctgctccagcaggagcacgt	6	7	10	18	3	1	0	0	0	1	0	3	1	3	1	4	1	5	6	4	1	0	1			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:17366295G>T	ENST00000252597.3	-	10	1764	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.L467M	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCCCACCGCAGCTGCTCCAGC	0.682																																					p.L531M													.	.			0			c.C1591A												44	47	46					19																	17366295		2203	4300	6503	SO:0001583	missense	83878	exon10			ACCGCAGCTGCTC	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1591C>A	19.37:g.17366295G>T	ENSP00000252597:p.Leu531Met		55	0	0		52	0.06	3	NM_031941	0		0		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540606	0.45280	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.58797	0.38;0.31	4.92	3.89	0.44902	.	0.000000	0.56097	D	0.000027	T	0.70640	0.3247	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.71170	-0.4671	10	0.59425	D	0.04	-13.5874	9.2715	0.37675	0.1006:0.0:0.8994:0.0	.	467;531	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	M	531;467	ENSP00000252597:L531M;ENSP00000407902:L467M	ENSP00000252597:L531M	L	-	1	2	USHBP1	17227295	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	1.724000	0.38064	1.062000	0.40625	-0.140000	0.14226	CTG			0.682	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463328.1		NM_031941		T	17366295	G	T	17366295	3	4	135	1	0	0	0	0	1	0	0	0	17061	962	34	2	536	2	USHBP1	19	17366295	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	678317	17366295	41762688	50	9998											
CATSPERG	57828	mdanderson.org	37	chr19	38827887	38827887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgttatgtgcggcccaGccatgttccctgccggtcct	4	10	11	16	3	0	0	0	0	0	0	2	0	2	0	6	2	3	2	6	2	1	2			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:38827887G>T	ENST00000409235.3	+	2	128	c.13G>T	c.(13-15)Gcc>Tcc	p.A5S	CATSPERG_ENST00000410018.1_Missense_Mutation_p.A5S|CATSPERG_ENST00000215069.4_Intron	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	5					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)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTGCGGCCCAGCCATGTTCCC	0.637																																					p.A5S													.	.			0			c.G13T												51	49	49					19																	38827887		692	1591	2283	SO:0001583	missense	57828	exon2			GGCCCAGCCATGT	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.13G>T	19.37:g.38827887G>T	ENSP00000386962:p.Ala5Ser		41	0	0		37	0.08	3	NM_021185	1	0	0	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	g	16.28	3.079633	0.55753	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.28895	1.59;1.59;1.59	3.3	1.16	0.20824	.	0.603497	0.13756	N	0.364903	T	0.18341	0.0440	N	0.24115	0.695	0.18873	N	0.999988	P;P	0.40180	0.705;0.705	B;B	0.38327	0.271;0.271	T	0.11743	-1.0575	10	0.87932	D	0	-7.1576	5.5171	0.16912	0.2608:0.0:0.7392:0.0	.	5;5	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	S	5	ENSP00000387057:A5S;ENSP00000386962:A5S;ENSP00000386950:A5S	ENSP00000311314:A5S	A	+	1	0	CATSPERG	43519727	0.005000	0.15991	0.062000	0.19696	0.066000	0.16364	0.495000	0.22483	0.429000	0.26202	-0.401000	0.06369	GCC			0.637	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330204.1		NM_021185		T	38827887	G	T	38827887	3	4	135	1	0	0	0	0	1	0	0	0	2694	971	34	2	15	2	CATSPERG	19	38827887	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	21461592	38827887	20301096	51	9999											
AXL	558	bcgsc.ca	37	chr19	41745121	41745121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctggagctgcagggggAcgggtctgtgtccaatctga	7	8	16	10	1	2	1	0	1	2	0	3	4	3	3	2	4	2	2	2	4	1	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:41745121A>G	ENST00000301178.4	+	9	1377	c.1187A>G	c.(1186-1188)gAc>gGc	p.D396G	AXL_ENST00000593513.1_Missense_Mutation_p.D128G|AXL_ENST00000359092.3_Missense_Mutation_p.D396G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	396	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTGCAGGGGGACGGGTCTGTG	0.617																																					p.D396G													.	AXL	126		0			c.A1187G												160	124	136					19																	41745121		2203	4300	6503	SO:0001583	missense	558	exon9			AGGGGGACGGGTC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1187A>G	19.37:g.41745121A>G	ENSP00000301178:p.Asp396Gly		70	0.0285714286	2		72	0.06	4	NM_021913	7	0	0	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	a	6.080	0.383100	0.11524	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.56941	0.43;0.43	3.79	2.76	0.32466	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.119980	0.06614	N	0.756112	T	0.35393	0.0930	N	0.14661	0.345	0.18873	N	0.999987	B;B	0.26547	0.152;0.001	B;B	0.29785	0.107;0.005	T	0.32824	-0.9892	10	0.20046	T	0.44	-0.5501	6.6768	0.23098	0.8854:0.0:0.1146:0.0	.	396;396	P30530-2;P30530	.;UFO_HUMAN	G	396	ENSP00000301178:D396G;ENSP00000351995:D396G	ENSP00000301178:D396G	D	+	2	0	AXL	46436961	0.360000	0.24964	0.183000	0.23137	0.712000	0.41017	0.709000	0.25734	0.540000	0.28808	0.317000	0.21355	GAC			0.617	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000463323.2				G	41745121	A	G	41745121	3	3	135	1	0	0	0	0	1	0	0	0	1238	275	10	4	1221	4	AXL	19	41745121	Missense_Mutation	SNP	A	TCGA-YU-A912-01A-11D-A435-10	2917234	41745121	17383862	52	10000											
CCDC97	90324	mdanderson.org	37	chr19	41825732	41825732	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgcttggaggaagaggaAgaggaggaggacagtgacga	13	4	19	5	1	0	3	0	1	0	2	0	10	0	9	1	6	1	1	1	6	2	1			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:41825732A>G	ENST00000269967.3	+	3	878	c.756A>G	c.(754-756)gaA>gaG	p.E252E		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	252										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						aggaagaggaagaggaggagg	0.607																																					p.E252E													.	.			0			c.A756G												22	21	21					19																	41825732		2203	4298	6501	SO:0001819	synonymous_variant	90324	exon3			AGAGGAAGAGGAG	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.756A>G	19.37:g.41825732A>G			24	0	0		21	0.1	2	NM_052848	69	0	0	Q658N6|Q96IF3	Silent	SNP	ENST00000269967.3	37	CCDS12578.1																																																																																					0.607	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463293.1		NM_052848		G	41825732	A	G	41825732	2	3	135	1	0	0	0	0	0	0	0	1	2877	69	3	4		4	CCDC97	19	41825732	Silent	SNP	A	TCGA-YU-A912-01A-11D-A435-10	80611	41825732	17303251	53	10001											
MYH14	79784	mdanderson.org	37	chr19	50781508	50781508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctggtgatggggagaggGcacgagcggaggctgctgag	7	5	23	6	2	0	3	0	2	0	1	0	6	0	4	0	7	2	4	0	7	0	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr19:50781508G>T	ENST00000596571.1	+	27	3871	c.3871G>T	c.(3871-3873)Gca>Tca	p.A1291S	MYH14_ENST00000601313.1_Missense_Mutation_p.A1332S|MYH14_ENST00000440075.2_Missense_Mutation_p.A1332S|MYH14_ENST00000262269.8_Missense_Mutation_p.A1332S|MYH14_ENST00000598205.1_Missense_Mutation_p.A1299S|MYH14_ENST00000425460.1_Missense_Mutation_p.A1299S|MYH14_ENST00000376970.2_Missense_Mutation_p.A1324S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1291					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)		TGGGGAGAGGGCACGAGCGGA	0.662																																					p.A1332S													.	.			0			c.G3994T												19	27	24					19																	50781508		2080	4185	6265	SO:0001583	missense	79784	exon30			GAGAGGGCACGAG	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.3871G>T	19.37:g.50781508G>T	ENSP00000472819:p.Ala1291Ser		38	0	0		30	0.1	3	NM_001145809	8	0	0	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	3.119	-0.180960	0.06380	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	3.78	2.64	0.31445	Myosin tail (1);	.	.	.	.	T	0.55513	0.1925	N	0.05124	-0.11	0.26371	N	0.976893	B;B;B	0.25719	0.049;0.132;0.109	B;B;B	0.33254	0.064;0.16;0.099	T	0.48019	-0.9071	9	0.14656	T	0.56	.	6.1894	0.20516	0.0:0.2027:0.5884:0.2089	.	1332;1291;1299	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	S	1291;1332;1324;1299;1291;1332	ENSP00000406273:A1332S;ENSP00000366169:A1324S;ENSP00000407879:A1299S;ENSP00000262269:A1332S	ENSP00000262269:A1332S	A	+	1	0	MYH14	55473320	0.198000	0.23374	0.993000	0.49108	0.755000	0.42902	1.259000	0.32956	2.149000	0.67028	0.462000	0.41574	GCA			0.662	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464710.2		NM_024729		T	50781508	G	T	50781508	3	4	135	1	0	0	0	0	1	0	0	0	10049	1203	42	2	4108	2	MYH14	19	50781508	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	8955776	50781508	8347475	54	10002											
MICAL3	57553	bcgsc.ca	37	chr22	18358228	18358228	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacctgtcggagggagtcGgaggagggagaggcggggcg	7	4	23	7	4	0	1	0	0	0	1	2	6	0	5	1	8	1	1	1	8	1	1			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr22:18358228G>T	ENST00000441493.2	-	17	2594				MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Silent_p.S830S|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000429452.1_Silent_p.S830S	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						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)		GGAGGGAGTCGGAGGAGGGAG	0.577																																					p.S830S													.	MICAL3	53		0			c.C2490A												24	31	29					22																	18358228		1560	3567	5127	SO:0001627	intron_variant	57553	exon19			GGAGTCGGAGGAG	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.2242-3439C>A	22.37:g.18358228G>T			73	0	0		43	0.09	4	NM_001136004	0		0	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1																																																																																					0.577	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447351.1				T	18358228	G	T	18358228	1	4	135	0	1	0	0	0	0	0	0	0	9587	1103	39	1		1	MICAL3	22	18358228	Intron	SNP	G	TCGA-YU-A912-01A-11D-A435-10		18358228	32946338	55	10003											
EMID1	129080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	29627121	29627121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcagccccggagatggagGcctccagggtgagtgtcaga	8	5	18	10	1	1	3	1	1	0	2	2	5	2	4	4	5	1	1	4	5	0	0			TCGA-YU-A912-01A-11D-A435-10	TCGA-YU-A912-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	468cbb8a-c062-4b63-8e48-644496a795e2	047fbeb8-426a-4b89-9920-743bf10f3b2a	g.chr22:29627121G>T	ENST00000404820.3	+	6	705	c.578G>T	c.(577-579)gGc>gTc	p.G193V	EMID1_ENST00000404755.3_Missense_Mutation_p.G193V|EMID1_ENST00000334018.6_Missense_Mutation_p.G193V|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	191	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGAGATGGAGGCCTCCAGGGT	0.642																																					p.G193V													.	.			0			c.G578T												42	45	44					22																	29627121		2203	4300	6503	SO:0001583	missense	129080	exon6			ATGGAGGCCTCCA	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.578G>T	22.37:g.29627121G>T	ENSP00000384452:p.Gly193Val		207	0	0		209	0.18	37	NM_133455	8	0.38	3	B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.743|9.743	1.165513|1.165513	0.21538|0.21538	.|.	.|.	ENSG00000186998|ENSG00000186998	ENST00000433143|ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820;ENST00000430127	.|D;T;D;D;T	.|0.92752	.|-3.0;0.79;-3.1;-2.98;0.47	4.95|4.95	3.93|3.93	0.45458|0.45458	.|.	.|0.634319	.|0.13819	.|N	.|0.360579	D|D	0.93387|0.93387	0.7891|0.7891	H|H	0.95574|0.95574	3.69|3.69	0.44295|0.44295	D|D	0.997161|0.997161	.|B;P;B;P	.|0.35077	.|0.22;0.483;0.19;0.465	.|B;B;B;B	.|0.31101	.|0.058;0.086;0.081;0.124	D|D	0.93074|0.93074	0.6485|0.6485	5|10	.|0.87932	.|D	.|0	0.0429|0.0429	9.5733|9.5733	0.39442|0.39442	0.0993:0.0:0.9007:0.0|0.0993:0.0:0.9007:0.0	.|.	.|193;193;191;193	.|B0QYK4;B0QYK5;Q96A84;Q96A84-3	.|.;.;EMID1_HUMAN;.	S|V	39|193;193;193;193;165	.|ENSP00000335481:G193V;ENSP00000403816:G193V;ENSP00000385414:G193V;ENSP00000384452:G193V;ENSP00000399760:G165V	.|ENSP00000335481:G193V	A|G	+|+	1|2	0|0	EMID1|EMID1	27957121|27957121	0.627000|0.627000	0.27129|0.27129	0.775000|0.775000	0.31657|0.31657	0.017000|0.017000	0.09413|0.09413	0.653000|0.653000	0.24902|0.24902	1.228000|1.228000	0.43614|0.43614	0.585000|0.585000	0.79938|0.79938	GCC|GGC			0.642	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000321075.1		NM_133455		T	29627121	G	T	29627121	3	4	135	1	0	0	0	0	1	0	0	0	5098	1203	42	2	600	2	EMID1	22	29627121	Missense_Mutation	SNP	G	TCGA-YU-A912-01A-11D-A435-10	11268893	29627121	21677445	56	10004											
MMEL1	79258	mdanderson.org	37	chr1	2525328	2525328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttcaaggcctgtggctGctccttgctgaagaaggggg	9	9	15	8	0	1	2	1	1	0	1	2	2	2	2	2	4	2	4	2	4	4	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:2525328G>T	ENST00000378412.3	-	19	1953	c.1792C>A	c.(1792-1794)Cag>Aag	p.Q598K	MMEL1_ENST00000288709.6_Missense_Mutation_p.Q589K|MMEL1_ENST00000502556.1_Missense_Mutation_p.Q441K			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	598						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCCTGTGGCTGCTCCTTGCTG	0.587																																					p.Q598K													.	.			0			c.C1792A												65	57	59					1																	2525328		2202	4300	6502	SO:0001583	missense	79258	exon19			GTGGCTGCTCCTT	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1792C>A	1.37:g.2525328G>T	ENSP00000367668:p.Gln598Lys		81	0	0		34	0.09	3	NM_033467	4	0	0	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847183	0.71603	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90844	-2.74;-2.74;-2.74	5.19	5.19	0.71726	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.116200	0.64402	D	0.000011	D	0.93996	0.8077	M	0.62016	1.91	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.92508	0.6014	10	0.28530	T	0.3	-36.0063	17.2836	0.87135	0.0:0.0:1.0:0.0	.	598	Q495T6	MMEL1_HUMAN	K	441;589;598;441	ENSP00000288709:Q589K;ENSP00000367668:Q598K;ENSP00000422492:Q441K	ENSP00000288709:Q589K	Q	-	1	0	MMEL1	2515188	1.000000	0.71417	0.987000	0.45799	0.916000	0.54674	6.387000	0.73191	2.424000	0.82194	0.655000	0.94253	CAG			0.587	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002395.2		NM_033467		T	2525328	G	T	2525328	3	4	136	1	0	0	0	0	1	0	0	0	9662	1328	46	2	571	2	MMEL1	1	2525328	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		2525328	246725293	1	10005											
FAM54B	56181	mdanderson.org	37	chr1	26156254	26156254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcgtctctttgtccaagGccagcagctttgcagacatg	8	11	10	12	1	1	1	0	0	1	1	3	1	2	1	2	1	4	3	2	1	1	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:26156254G>T	ENST00000374301.3	+	6	1014	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S	MTFR1L_ENST00000466284.1_Missense_Mutation_p.R199S|MTFR1L_ENST00000374300.3_Missense_Mutation_p.A236S|MTFR1L_ENST00000469815.1_3'UTR|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000526894.1_Missense_Mutation_p.R176S|MTFR1L_ENST00000374303.2_Missense_Mutation_p.A236S|MTFR1L_ENST00000374307.5_Missense_Mutation_p.A224S|MTFR1L_ENST00000524618.1_Missense_Mutation_p.A139S|MTFR1L_ENST00000474295.1_Missense_Mutation_p.R199S	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	236																	TTTGTCCAAGGCCAGCAGCTT	0.483																																					p.A236S													.	.			0			c.G706T												65	60	62					1																	26156254		1961	4155	6116	SO:0001583	missense	56181	exon6			TCCAAGGCCAGCA		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"family with sequence similarity 54, member B"	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.706G>T	1.37:g.26156254G>T	ENSP00000363419:p.Ala236Ser		70	0	0		48	0.06	3	NM_001099625	168	0	0	A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	CCDS41284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.105|9.105	1.005116|1.005116	0.19199|0.19199	.|.	.|.	ENSG00000117640|ENSG00000117640	ENST00000374303;ENST00000472643;ENST00000524618;ENST00000374307;ENST00000374301;ENST00000374300|ENST00000474295;ENST00000526894;ENST00000466284	T;T;T;T;T;T|T;T;T	0.37752|0.51071	1.18;1.18;1.18;1.18;1.18;1.18|0.72;0.94;0.72	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.051036|.	0.85682|.	D|.	0.000000|.	T|T	0.28699|0.28699	0.0711|0.0711	N|N	0.08118|0.08118	0|0	0.49213|0.49213	D|D	0.999765|0.999765	P;B;B|B	0.37370|0.09022	0.592;0.311;0.361|0.002	B;B;B|B	0.39660|0.08055	0.306;0.103;0.165|0.003	T|T	0.14200|0.14200	-1.0481|-1.0481	10|8	0.02654|.	T|.	1|.	-1.0331|-1.0331	15.581|15.581	0.76439|0.76439	0.0:0.0:0.8623:0.1377|0.0:0.0:0.8623:0.1377	.|.	269;224;236|199	B4DRE5;Q9H019-3;Q9H019|Q9H019-2	.;.;FA54B_HUMAN|.	S|S	236;139;139;224;236;236|199;176;199	ENSP00000363421:A236S;ENSP00000432719:A139S;ENSP00000435193:A139S;ENSP00000363426:A224S;ENSP00000363419:A236S;ENSP00000363418:A236S|ENSP00000435461:R199S;ENSP00000432227:R176S;ENSP00000434751:R199S	ENSP00000363418:A236S|.	A|R	+|+	1|3	0|2	FAM54B|FAM54B	26028841|26028841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.848000|6.848000	0.75409|0.75409	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|AGG			0.483	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019319.1		NM_019557		T	26156254	G	T	26156254	3	4	136	1	0	0	0	0	1	0	0	0	5596	1203	42	2	724	2	FAM54B	1	26156254	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	23630926	26156254	223094367	2	10006											
ZMYM6	9204	bcgsc.ca	37	chr1	35486070	35486070	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggacacatccatactccTttaaaaaaaaaaagaaaaga	21	8	5	7	0	0	2	0	0	0	2	2	3	2	3	2	1	1	1	2	1	9	4			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:35486070T>C	ENST00000357182.4	-	3	321		c.e3-2		ZMYM6_ENST00000373333.1_Splice_Site|ZMYM6_ENST00000317538.5_Splice_Site|ZMYM6_ENST00000373340.2_Splice_Site|ZMYM6_ENST00000493328.1_Splice_Site|ZMYM6_ENST00000487874.1_Splice_Site	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCCATACTCCTTTAAAAAAAA	0.303																																					.													.	ZMYM6	110		0			c.94-2A>G												76	75	75					1																	35486070		2202	4298	6500	SO:0001630	splice_region_variant	9204	exon4			TACTCCTTTAAAA	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.94-2A>G	1.37:g.35486070T>C			134	0	0		72	0.08	6	NM_007167	0		0	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Splice_Site	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479759	0.44044	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531;ENST00000317538;ENST00000373333	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0737	0.59075	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMYM6	35258657	1.000000	0.71417	0.969000	0.41365	0.208000	0.24298	5.245000	0.65405	1.748000	0.51833	0.254000	0.18369	.			0.303	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011999.1		NM_007167	Intron	C	35486070	T	C	35486070	5	2	136	1	0	0	0	0	0	0	1	0	17727	1623	56	4	3941	4	ZMYM6	1	35486070	Splice_Site	SNP	T	TCGA-YU-A94D-01A-11D-A435-10	9329816	35486070	213764551	3	10007											
SLC35D1	23169	mdanderson.org	37	chr1	67519691	67519691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacgtctatgaacttcCgccatggctgccgcagcagc	7	9	11	14	3	1	2	0	2	1	0	2	2	2	2	3	1	5	4	3	1	2	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:67519691C>T	ENST00000235345.5	-	1	91	c.6G>A	c.(4-6)gcG>gcA	p.A2A	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	2					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TATGAACTTCCGCCATGGCTG	0.677																																					p.A2A													.	.			0			c.G6A												23	28	26					1																	67519691		2203	4300	6503	SO:0001819	synonymous_variant	23169	exon1			AACTTCCGCCATG	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.6G>A	1.37:g.67519691C>T			82	0	0		42	0.07	3	NM_015139	6	0	0	A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	CCDS636.1																																																																																					0.677	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025948.1		NM_015139		T	67519691	C	T	67519691	2	4	136	1	0	0	0	0	0	0	0	1	14604	639	23	1		1	SLC35D1	1	67519691	Silent	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	32033621	67519691	181730930	4	10008											
OVGP1	5016	bcgsc.ca	37	chr1	111957533	111957533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcacaggggtcacagaCtgatgacccacaggggtcag	11	6	13	11	0	3	4	3	3	0	1	3	4	3	4	1	4	0	0	1	4	0	0	rs112145355		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					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)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q													.	OVGP1	177		0			c.G1590A												59	57	58					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	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.1590G>A	1.37:g.111957533C>T			173	0.0115606936	2		93	0.17	16	NM_002557	4	0	0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																					0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032461.1		NM_002557		T	111957533	C	T	111957533	2	4	136	1	0	0	0	0	0	0	0	1	11342	564	20	3		3	OVGP1	1	111957533	Silent	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	44437842	111957533	137293088	5	10009											
NBPF10	100132406	hgsc.bcm.edu	37	chr1	145293535	145293535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcaaagagaaatgttttCtaactcaactggccggcttc	12	11	7	11	1	3	1	2	0	1	1	4	2	3	1	2	2	2	2	2	2	4	4	rs55936365		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:145293535C>G	ENST00000369339.3	+	3	383	c.130C>G	c.(130-132)Cta>Gta	p.L44V	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.L44V|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L44V(2)		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)		GAAATGTTTTCTAACTCAACT	0.443																																					p.L44V													NBPF10,NS,carcinoma,0,2	NBPF10	0	2	2	Substitution - Missense(2)	kidney(2)	c.C130G																																									SO:0001583	missense	100132406	exon1			TGTTTTCTAACTC	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.130C>G	1.37:g.145293535C>G	ENSP00000358345:p.Leu44Val		60	0.0333333333	2		54	0.09	5	NM_001039703	20	0	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.027|0.027	-1.360141|-1.360141	0.01245|0.01245	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02837|.	4.14|.	0.687|0.687	-1.37|-1.37	0.09056|0.09056	.|.	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.01122|0.01122	-1.005|-1.005	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.33007|0.33007	-0.9885|-0.9885	9|6	0.02654|0.33141	T|T	1|0.24	.|.	3.2142|3.2142	0.06692|0.06692	0.3787:0.2355:0.3858:0.0|0.3787:0.2355:0.3858:0.0	rs55936365|rs55936365	44|.	A8MQ30|.	.|.	V|C	44|3	ENSP00000345684:L44V|.	ENSP00000345684:L44V|ENSP00000414194:S3C	L|S	+|+	1|2	2|0	NBPF10|NBPF10	144004892|144004892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.451000|-3.451000	0.00466|0.00466	-3.626000|-3.626000	0.00130|0.00130	-3.729000|-3.729000	0.00022|0.00022	CTA|TCT			0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding		OTTHUMT00000038550.3		NM_001039703		G	145293535	C	G	145293535	3	3	136	1	0	0	0	0	1	0	0	0	10209	912	32	5	132	5	NBPF10	1	145293535	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	33336002	145293535	103957086	6	10010											
LOR	4014	hgsc.bcm.edu	37	chr1	153233506	153233506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggtggcggtggcggCggcagcggcggtggtggctg	1	5	26	9	7	0	0	0	0	0	0	0	0	0	0	0	12	1	2	0	12	0	0			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:153233506C>T	ENST00000368742.3	+	2	138	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	27					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G27G(1)		lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggtggcggcggcagcggcg	0.682																																					p.G27G													LOR,caecum,carcinoma,0,1	LOR	0	1	1	Substitution - coding silent(1)	lung(1)	c.C81T												8	10	9					1																	153233506		2045	4027	6072	SO:0001819	synonymous_variant	4014	exon2			TGGCGGCGGCAGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.81C>T	1.37:g.153233506C>T			98	0.0102040816	1		72	0.07	5	NM_000427	0		0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																					0.682	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039107.1		NM_000427		T	153233506	C	T	153233506	2	4	136	1	0	0	0	0	0	0	0	1	8913	755	27	1		1	LOR	1	153233506	Silent	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	7939971	153233506	96017115	7	10011											
VSIG8	391123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr1	159827898	159827898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accttggacagtgacaatgaCcttccgggtggccatggtgg	8	9	14	10	1	0	2	0	2	0	0	1	3	1	3	4	5	0	0	4	5	1	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:159827898C>A	ENST00000368100.1	-	3	547	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F	C1orf204_ENST00000368102.1_5'Flank|RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	138	Ig-like V-type 1.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GTGACAATGACCTTCCGGGTG	0.552																																					p.V138F													.	.			0			c.G412T												95	79	84					1																	159827898		2203	4300	6503	SO:0001583	missense	391123	exon3			CAATGACCTTCCG		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"Immunoglobulin superfamily / V-set domain containing"	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.412G>T	1.37:g.159827898C>A	ENSP00000357080:p.Val138Phe		282	0.0035460993	1		154	0.51	79	NM_001013661	0		0	Q5VU14	Missense_Mutation	SNP	ENST00000368100.1	37	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168716	0.57584	.	.	ENSG00000243284	ENST00000368100	T	0.52754	0.65	5.2	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.178954	0.48767	D	0.000163	T	0.42449	0.1203	N	0.17082	0.46	0.51233	D	0.999913	D	0.76494	0.999	D	0.72338	0.977	T	0.48139	-0.9061	10	0.49607	T	0.09	.	14.2724	0.66159	0.0:1.0:0.0:0.0	.	138	Q5VU13	VSIG8_HUMAN	F	138	ENSP00000357080:V138F	ENSP00000357080:V138F	V	-	1	0	VSIG8	158094522	0.989000	0.36119	0.998000	0.56505	0.803000	0.45373	1.580000	0.36547	2.423000	0.82170	0.561000	0.74099	GTC			0.552	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085978.8		NM_001013661		A	159827898	C	A	159827898	3	1	136	1	0	0	0	0	1	0	0	0	17250	507	18	3	852	3	VSIG8	1	159827898	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	6594392	159827898	89422723	8	10012											
NR1I3	9970	mdanderson.org	37	chr1	161200619	161200619	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaccgatcccggggccttcGctgctggcccttgatgtagc	4	10	13	14	3	0	1	0	1	0	0	2	2	1	1	4	3	3	4	4	3	2	4			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:161200619G>T	ENST00000367982.4	-	8	1068	c.913C>A	c.(913-915)Cga>Aga	p.R305R	NR1I3_ENST00000367979.2_Silent_p.R310R|NR1I3_ENST00000504010.1_Silent_p.R233R|NR1I3_ENST00000367983.4_Silent_p.R301R|NR1I3_ENST00000505005.1_Silent_p.R262R|NR1I3_ENST00000367981.3_Silent_p.R277R|NR1I3_ENST00000367985.3_Silent_p.R267R|NR1I3_ENST00000367980.2_Silent_p.R310R|NR1I3_ENST00000437437.2_Silent_p.R272R|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000515621.1_Silent_p.R226R|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000511676.1_Silent_p.R272R|NR1I3_ENST00000442691.2_Silent_p.R305R|NR1I3_ENST00000506209.1_Silent_p.R272R|NR1I3_ENST00000367984.4_Silent_p.R262R|NR1I3_ENST00000511944.1_3'UTR|NR1I3_ENST00000511748.1_3'UTR|NR1I3_ENST00000512372.1_Silent_p.R233R|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000508740.1_Silent_p.R277R|NR1I3_ENST00000412844.2_Silent_p.R281R|NR1I3_ENST00000428574.2_Silent_p.R306R			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	305					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CGGGGCCTTCGCTGCTGGCCC	0.547																																					p.R310R													NR1I3_ENST00000428574,NS,carcinoma,0,4	NR1I3_ENST00000428574	0	4	0			c.C928A												89	77	81					1																	161200619		2203	4300	6503	SO:0001819	synonymous_variant	9970	exon8			GCCTTCGCTGCTG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.913C>A	1.37:g.161200619G>T			75	0	0		50	0.06	3	NM_001077482	2	0	0	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Silent	SNP	ENST00000367982.4	37	CCDS41430.1																																																																																					0.547	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000083048.2				T	161200619	G	T	161200619	2	4	136	1	0	0	0	0	0	0	0	1	10638	1095	38	1		1	NR1I3	1	161200619	Silent	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	1372721	161200619	88050002	9	10013											
KIF14	9928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	200529865	200529865	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attacctggacactggcagcTttattgttaccgttttctag	8	16	8	9	1	1	0	0	0	1	0	1	1	1	1	2	2	3	4	2	2	4	8			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr1:200529865T>C	ENST00000367350.4	-	26	4653	c.4215A>G	c.(4213-4215)aaA>aaG	p.K1405K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1405	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						CACTGGCAGCTTTATTGTTAC	0.383																																					p.K1405K													.	.			0			c.A4215G												179	168	172					1																	200529865		2203	4300	6503	SO:0001819	synonymous_variant	9928	exon26			GGCAGCTTTATTG	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.4215A>G	1.37:g.200529865T>C			262	0	0		206	0.34	71	NM_014875	14	0.43	6	Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	CCDS30963.1																																																																																					0.383	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086878.1		NM_014875		C	200529865	T	C	200529865	2	2	136	1	0	0	0	0	0	0	0	1	8291	1606	56	4		4	KIF14	1	200529865	Silent	SNP	T	TCGA-YU-A94D-01A-11D-A435-10	39329246	200529865	48720756	10	10014											
TTC15	51112	mdanderson.org	37	chr2	3461436	3461436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagaagacggcggcatGagcagcgtgactcaggaggg	11	5	17	8	3	1	4	1	2	0	2	1	5	1	5	0	4	3	3	0	4	2	1			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr2:3461436G>T	ENST00000324266.5	+	7	1770	c.1575G>T	c.(1573-1575)atG>atT	p.M525I	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.M525I|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	525					vesicle-mediated transport (GO:0016192)												ACGGCGGCATGAGCAGCGTGA	0.517																																					p.M525I													.	.			0			c.G1575T												98	89	92					2																	3461436		2203	4300	6503	SO:0001583	missense	51112	exon7			CGGCATGAGCAGC	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1575G>T	2.37:g.3461436G>T	ENSP00000324318:p.Met525Ile		29	0	0		15	0.2	3	NM_016030	44	0	0	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	8.199|8.199|8.199	0.797689|0.797689|0.797689	0.16327|0.16327|0.16327	.|.|.	.|.|.	ENSG00000171853|ENSG00000171853|ENSG00000171853	ENST00000433382|ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624|ENST00000441983	.|T;T|.	.|0.44482|.	.|0.92;0.92|.	5.1|5.1|5.1	4.23|4.23|4.23	0.50019|0.50019|0.50019	.|.|.	.|0.475120|.	.|0.25327|.	.|N|.	.|0.031466|.	.|T|.	.|0.45256|.	.|0.1333|.	L|L|L	0.38175|0.38175|0.38175	1.15|1.15|1.15	0.29838|0.29838|0.29838	N|N|N	0.829452|0.829452|0.829452	.|B;B|.	.|0.23316|.	.|0.022;0.083|.	.|B;B|.	.|0.15484|.	.|0.013;0.008|.	.|T|.	.|0.42666|.	.|-0.9438|.	.|10|.	.|0.19590|.	.|T|.	.|0.45|.	.|.|.	13.0339|13.0339|13.0339	0.58859|0.58859|0.58859	0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0	.|.|.	.|508;525|.	.|E7ENL7;Q8WVT3|.	.|.;TPC12_HUMAN|.	X|I|L	71|525;508;525;23|205	.|ENSP00000371544:M525I;ENSP00000324318:M525I|.	.|ENSP00000303612:M508I|.	E|M|X	+|+|+	1|3|2	0|0|2	TTC15|TTC15|TTC15	3440443|3440443|3440443	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.011000|0.011000|0.011000	0.14972|0.14972|0.14972	0.031000|0.031000|0.031000	0.12232|0.12232|0.12232	3.738000|3.738000|3.738000	0.55067|0.55067|0.55067	1.395000|1.395000|1.395000	0.46643|0.46643|0.46643	-0.349000|-0.349000|-0.349000	0.07799|0.07799|0.07799	GAG|ATG|TGA			0.517	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206693.2		NM_016030		T	3461436	G	T	3461436	3	4	136	1	0	0	0	0	1	0	0	0	16706	1290	45	3	1597	3	TTC15	2	3461436	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		3461436	239737937	11	10015											
FBXO11	80204	broad.mit.edu	37	chr2	48036814	48036814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatctgattgccttctaGtgttgcagttgcgtgatttg	9	16	10	6	1	2	2	0	2	2	0	2	2	2	2	1	0	3	3	1	0	3	6			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr2:48036814G>T	ENST00000403359.3	-	20	2443	c.2371C>A	c.(2371-2373)Cta>Ata	p.L791I	MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000316377.4_Missense_Mutation_p.L707I|FBXO11_ENST00000434523.2_Missense_Mutation_p.L215I|FBXO11_ENST00000405808.1_5'Flank|FBXO11_ENST00000402508.1_Missense_Mutation_p.L707I	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	791					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)			TTGCCTTCTAGTGTTGCAGTT	0.338			"Mis, F, D"		DLBCL																																p.L791I				Rec	yes		2	2p16.3	80204	F-box protein 11		L	.	FBXO11	127		2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	c.C2371A												107	103	104					2																	48036814		2203	4299	6502	SO:0001583	missense	80204	exon20			CTTCTAGTGTTGC	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.2371C>A	2.37:g.48036814G>T	ENSP00000384823:p.Leu791Ile		116	0	0		104	0.04	4	NM_001190274	187	0	0	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009802	0.54361	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.48	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	L	0.28192	0.835	0.80722	D	1	P	0.38767	0.646	P	0.52267	0.694	T	0.69815	-0.5043	10	0.45353	T	0.12	-5.3859	8.614	0.33820	0.3662:0.0:0.6338:0.0	.	215	B3KUR1	.	I	707;791;707;215	ENSP00000385398:L707I;ENSP00000384823:L791I;ENSP00000323822:L707I;ENSP00000397359:L215I	ENSP00000323822:L707I	L	-	1	2	FBXO11	47890318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.373000	0.34272	0.379000	0.24794	0.561000	0.74099	CTA			0.338	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000251181.3		NM_012167, NM_018693, NM_025133		T	48036814	G	T	48036814	3	4	136	1	0	0	0	0	1	0	0	0	5740	1020	36	3	428	3	FBXO11	2	48036814	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	44575378	48036814	195162559	12	10016											
VPS54	51542	mdanderson.org	37	chr2	64160840	64160840	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggaatagcagatgatGatgtgtgctctttgctggat	8	14	12	7	0	1	3	0	2	1	1	2	5	2	5	1	2	3	3	1	2	2	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr2:64160840G>T	ENST00000272322.4	-	12	1860	c.1706C>A	c.(1705-1707)tCa>tAa	p.S569*	VPS54_ENST00000354504.3_Nonsense_Mutation_p.S416*|VPS54_ENST00000409558.4_Nonsense_Mutation_p.S557*			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	569					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGCAGATGATGATGTGTGCTC	0.403																																					p.S569X													.	.			0			c.C1706A												110	107	108					2																	64160840		2203	4300	6503	SO:0001587	stop_gained	51542	exon12			GATGATGATGTGT	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1706C>A	2.37:g.64160840G>T	ENSP00000272322:p.Ser569*		47	0	0		47	0.06	3	NM_016516	43	0	0	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Nonsense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	G	43	9.915029	0.99294	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	.	.	.	5.47	5.47	0.80525	.	0.571723	0.18892	N	0.128297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.6449	0.56729	0.0756:0.0:0.9244:0.0	.	.	.	.	X	416;569;557;557;569	.	ENSP00000272322:S569X	S	-	2	0	VPS54	64014344	0.985000	0.35326	0.998000	0.56505	0.926000	0.56050	5.763000	0.68818	2.566000	0.86566	0.563000	0.77884	TCA			0.403	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327062.2		NM_016516		T	64160840	G	T	64160840	4	4	136	1	0	0	0	0	0	1	0	0	17240	1294	45	3	1275	3	VPS54	2	64160840	Nonsense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	16124026	64160840	179038533	13	10017											
TMEM182	130827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr2	103380825	103380825	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaactgcacacatgcttaCctgtctccgtaccccttcat	10	11	5	15	1	2	1	1	0	1	1	3	1	2	1	4	0	5	3	4	0	4	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr2:103380825C>A	ENST00000412401.2	+	3	475	c.270C>A	c.(268-270)taC>taA	p.Y90*	TMEM182_ENST00000409173.1_Nonsense_Mutation_p.Y47*|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_De_novo_Start_InFrame	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	90						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CACATGCTTACCTGTCTCCGT	0.478																																					p.Y90X													.	.			0			c.C270A												183	142	156					2																	103380825		2203	4300	6503	SO:0001587	stop_gained	130827	exon3			TGCTTACCTGTCT	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.270C>A	2.37:g.103380825C>A	ENSP00000394178:p.Tyr90*		153	0	0		136	0.27	37	NM_144632	19	0.21	4	C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Nonsense_Mutation	SNP	ENST00000412401.2	37	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	C	37	6.552073	0.97658	.	.	ENSG00000170417	ENST00000454536;ENST00000409173;ENST00000412401	.	.	.	5.83	3.09	0.35607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.4492	9.7312	0.40361	0.0:0.7274:0.0:0.2726	.	.	.	.	X	47;47;90	.	ENSP00000387184:Y47X	Y	+	3	2	TMEM182	102747257	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.280000	0.33202	0.827000	0.34685	-0.136000	0.14681	TAC			0.478	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253293.1		NM_144632		A	103380825	C	A	103380825	4	1	136	1	0	0	0	0	0	1	0	0	16124	518	18	3	280	3	TMEM182	2	103380825	Nonsense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	39219985	103380825	139818548	14	10018											
TMEM111	55831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	10012302	10012302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcagagagtaaatgctccGaagcccaaatacattgagga	17	7	9	8	1	1	2	1	1	0	1	2	5	2	3	2	1	3	2	2	1	6	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr3:10012302G>A	ENST00000245046.2	-	6	996	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	180						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TAAATGCTCCGAAGCCCAAAT	0.398																																					p.R180W													TMEM111,bladder,carcinoma,+1,1	TMEM111	1	1	0			c.C538T												126	124	125					3																	10012302		2203	4300	6503	SO:0001583	missense	55831	exon6			TGCTCCGAAGCCC	AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.538C>T	3.37:g.10012302G>A	ENSP00000245046:p.Arg180Trp		153	0	0		66	0.45	30	NM_018447	142	0.39	56	B2R4Z9|Q53GH8|Q6ZMC2	Missense_Mutation	SNP	ENST00000245046.2	37	CCDS2594.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254564	0.80135	.	.	ENSG00000125037	ENST00000245046	.	.	.	5.91	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83710	0.0187	9	0.87932	D	0	.	7.8515	0.29457	0.0808:0.0:0.7594:0.1598	.	180;180	Q9P0I2-2;Q9P0I2	.;TM111_HUMAN	W	180	.	ENSP00000245046:R180W	R	-	1	2	TMEM111	9987302	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.460000	0.45031	1.515000	0.48885	0.655000	0.94253	CGG			0.398	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250532.1		NM_018447		A	10012302	G	A	10012302	3	1	136	1	0	0	0	0	1	0	0	0	16051	1057	37	1	259	1	TMEM111	3	10012302	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		10012302	188010128	15	10019											
ADCY5	111	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	123049765	123049765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgatcatgtccatgcccatCtccacacagcagtgggcgtg	8	9	10	14	2	2	0	1	0	1	0	5	1	3	0	3	1	2	1	3	1	0	0			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr3:123049765C>T	ENST00000462833.1	-	5	2829	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	ADCY5_ENST00000491190.1_Silent_p.E172E|ADCY5_ENST00000309879.5_Silent_p.E189E	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	539	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCATGCCCATCTCCACACAGC	0.577																																					p.E539E													.	ADCY5	169		0			c.G1617A												91	75	80					3																	123049765		2203	4300	6503	SO:0001819	synonymous_variant	111	exon5			GCCCATCTCCACA	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1617G>A	3.37:g.123049765C>T			296	0	0		191	0.04	7	NM_183357	13	0	0	B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	CCDS3022.1																																																																																					0.577	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355889.4		XM_171048		T	123049765	C	T	123049765	2	4	136	1	0	0	0	0	0	0	0	1	297	912	32	3		3	ADCY5	3	123049765	Silent	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	113037463	123049765	74972665	16	10020											
TXK	7294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	48115254	48115254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacaattggctgagccaCggcctgcgacgctgggtgta	7	10	14	10	3	0	2	0	2	0	0	0	3	0	2	2	3	2	3	2	3	2	3	rs200958317		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr4:48115254C>T	ENST00000264316.4	-	3	229	c.144G>A	c.(142-144)ccG>ccA	p.P48P	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	48					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGCTGAGCCACGGCCTGCGAC	0.423													C|||	1	0.000199681	0	0	5008	,	,		18503	0.001		0	False		,,,				2504	0				p.P48P													.	.			0			c.G144A												141	141	141					4																	48115254		2203	4300	6503	SO:0001819	synonymous_variant	7294	exon3			GAGCCACGGCCTG	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.144G>A	4.37:g.48115254C>T			89	0	0		56	0.39	22	NM_003328	0		0	Q14220	Silent	SNP	ENST00000264316.4	37	CCDS3480.1																																																																																			0		0.423	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219869.7		NM_003328		T	48115254	C	T	48115254	2	4	136	1	0	0	0	0	0	0	0	1	16810	523	19	1		1	TXK	4	48115254	Silent	SNP	C	TCGA-YU-A94D-01A-11D-A435-10		48115254	143039022	17	10021											
MEGF10	84466	broad.mit.edu	37	chr5	126781227	126781227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgattcctaccagatcgGggccattgcaggcatcatca	9	10	10	12	1	2	2	2	1	0	1	4	2	3	2	3	3	3	3	3	3	1	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr5:126781227G>T	ENST00000274473.6	+	21	2837	c.2570G>T	c.(2569-2571)gGg>gTg	p.G857V	MEGF10_ENST00000503335.2_Missense_Mutation_p.G857V|MEGF10_ENST00000510828.1_Intron	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	857	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TACCAGATCGGGGCCATTGCA	0.438																																					p.G857V													.	MEGF10	152		0			c.G2570T												168	155	159					5																	126781227		2203	4300	6503	SO:0001583	missense	84466	exon21			AGATCGGGGCCAT	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2570G>T	5.37:g.126781227G>T	ENSP00000274473:p.Gly857Val		273	0	0		171	0.02	4	NM_032446	5	0	0	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262120	0.80358	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	D;D	0.82526	-1.62;-1.62	5.68	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	M	0.76574	2.34	0.80722	D	1	D	0.60575	0.988	D	0.64877	0.93	D	0.90401	0.4402	10	0.56958	D	0.05	-12.9308	16.7316	0.85436	0.0:0.1288:0.8712:0.0	.	857	Q96KG7	MEG10_HUMAN	V	857	ENSP00000423354:G857V;ENSP00000274473:G857V	ENSP00000274473:G857V	G	+	2	0	MEGF10	126809126	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	5.341000	0.65964	2.681000	0.91329	0.563000	0.77884	GGG			0.438	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250973.2		NM_032446		T	126781227	G	T	126781227	3	4	136	1	0	0	0	0	1	0	0	0	9476	1232	43	3	2644	3	MEGF10	5	126781227	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		126781227	54134033	18	10022											
EGR1	1958	mdanderson.org	37	chr5	137803157	137803157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaacgcccttacgcttGcccagtggagtcctgtgatc	7	9	10	15	3	0	1	0	1	0	0	2	3	1	2	4	1	3	1	4	1	2	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr5:137803157G>T	ENST00000239938.4	+	2	1291	c.1019G>T	c.(1018-1020)tGc>tTc	p.C340F		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	340					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTTACGCTTGCCCAGTGGAG	0.642																																					p.C340F													.	.			0			c.G1019T												79	86	83					5																	137803157		2203	4300	6503	SO:0001583	missense	1958	exon2			ACGCTTGCCCAGT	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1019G>T	5.37:g.137803157G>T	ENSP00000239938:p.Cys340Phe		80	0.0125	1		42	0.07	3	NM_001964	47	0	0		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386679	0.42308	.	.	ENSG00000120738	ENST00000239938	T	0.36157	1.27	4.2	4.2	0.49525	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	0.66489	0.2794	M	0.90595	3.13	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.75997	-0.3120	10	0.87932	D	0	-25.0847	15.72	0.77700	0.0:0.0:1.0:0.0	.	340	P18146	EGR1_HUMAN	F	340	ENSP00000239938:C340F	ENSP00000239938:C340F	C	+	2	0	EGR1	137831056	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	9.657000	0.98554	2.177000	0.69029	0.563000	0.77884	TGC			0.642	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251274.1		NM_001964		T	137803157	G	T	137803157	3	4	136	1	0	0	0	0	1	0	0	0	4976	1319	46	2	1025	2	EGR1	5	137803157	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	11021930	137803157	43112103	19	10023											
TFAP2D	83741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	50740418	50740418	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctaagcactttccaaacAgttctcagtgaaatgctgaa	13	11	7	10	0	2	2	1	2	2	0	4	2	3	2	1	0	3	4	1	0	4	3	rs375378399		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr6:50740418A>C	ENST00000008391.3	+	8	1428	c.1200A>C	c.(1198-1200)acA>acC	p.T400T		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)					CTTTCCAAACAGTTCTCAGTG	0.463																																					p.T400T													TFAP2D,NS,carcinoma,+1,2	TFAP2D	1	2	0			c.A1200C							A		0,4406		0,0,2203	65	64	65		1200	1.4	1	6		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFAP2D	NM_172238.3		0,1,6502	CC,CA,AA		0.0116,0.0,0.0077		400/453	50740418	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83741	exon8			CCAAACAGTTCTC	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.1200A>C	6.37:g.50740418A>C			95	0	0		78	0.36	28	NM_172238	0		0		Silent	SNP	ENST00000008391.3	37	CCDS4933.1																																																																																					0.463	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040881.1		NM_172238		C	50740418	A	C	50740418	2	2	136	1	0	0	0	0	0	0	0	1	15813	175	7	4		4	TFAP2D	6	50740418	Silent	SNP	A	TCGA-YU-A94D-01A-11D-A435-10		50740418	120374649	20	10024											
COX7A2	1347	mdanderson.org	37	chr6	75947704	75947704	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catatatggcatatgctgttCctaaaaataaaaaacaaaaa	21	10	4	6	0	0	0	0	0	0	0	1	0	1	0	1	1	2	3	1	1	11	6			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr6:75947704C>A	ENST00000230459.4	-	4	387	c.194G>T	c.(193-195)gGa>gTa	p.G65V	COX7A2_ENST00000472311.2_Splice_Site_p.E37*|COX7A2_ENST00000509698.1_Splice_Site_p.G73V|COX7A2_ENST00000460985.1_Splice_Site_p.G35V|COX7A2_ENST00000370089.2_Splice_Site_p.G97V|COX7A2_ENST00000370081.2_Splice_Site_p.G97V	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	65						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						ATATGCTGTTCCTAAAAATAA	0.348																																					p.G97V													.	.			0			c.G290T												36	36	36					6																	75947704		2203	4300	6503	SO:0001630	splice_region_variant	1347	exon4			GCTGTTCCTAAAA	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.194-1G>T	6.37:g.75947704C>A			36	0	0		28	0.11	3	NM_001865	764	0	0	B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Missense_Mutation	SNP	ENST00000230459.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.20|15.20	2.764209|2.764209	0.49574|0.49574	.|.	.|.	ENSG00000112695|ENSG00000112695	ENST00000472311|ENST00000370081;ENST00000230459;ENST00000370089;ENST00000509698;ENST00000460985	.|T;T;T;T;T	.|0.76709	.|-1.04;-1.04;-1.04;-0.15;-1.04	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.87621	.|0.6223	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	.|D	.|0.88336	.|0.2971	.|10	0.66056|0.87932	D|D	0.02|0	.|.	18.8519|18.8519	0.92235|0.92235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|65	.|P14406	.|CX7A2_HUMAN	X|V	37|97;65;97;73;35	.|ENSP00000359098:G97V;ENSP00000230459:G65V;ENSP00000359106:G97V;ENSP00000425951:G73V;ENSP00000422979:G35V	ENSP00000423432:E37X|ENSP00000230459:G65V	E|G	-|-	1|2	0|0	COX7A2|COX7A2	76004424|76004424	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.442000|0.442000	0.32017|0.32017	5.336000|5.336000	0.65935|0.65935	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	GAA|GGA			0.348	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001865	Missense_Mutation	A	75947704	C	A	75947704	5	1	136	1	0	0	0	0	0	0	1	0	3782	869	30	3	61	3	COX7A2	6	75947704	Splice_Site	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	25207286	75947704	95167363	21	10025											
TPBG	7162	broad.mit.edu	37	chr6	83075780	83075780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttagccctgataggcGctattttcctcctggttttg	4	19	9	9	1	0	1	0	1	0	0	2	1	2	1	3	2	1	3	3	2	3	9			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr6:83075780G>T	ENST00000369750.3	+	2	1719	c.1102G>T	c.(1102-1104)Gct>Tct	p.A368S	TPBG_ENST00000535040.1_Missense_Mutation_p.A368S|TPBG_ENST00000543496.1_Missense_Mutation_p.A368S			Q13641	TPBG_HUMAN	trophoblast glycoprotein	368					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CCTGATAGGCGCTATTTTCCT	0.468																																					p.A368S													.	TPBG	37		0			c.G1102T												103	102	102					6																	83075780		2203	4300	6503	SO:0001583	missense	7162	exon2			ATAGGCGCTATTT	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.1102G>T	6.37:g.83075780G>T	ENSP00000358765:p.Ala368Ser		167	0	0		103	0.04	4	NM_001166392	136	0	0	A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559969	0.65538	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.60920	0.15;0.15;0.15	5.94	5.94	0.96194	.	0.627816	0.17041	N	0.189333	T	0.43211	0.1237	N	0.08118	0	0.36223	D	0.852141	D	0.64830	0.994	P	0.51999	0.687	T	0.55661	-0.8106	10	0.56958	D	0.05	-9.2564	20.3736	0.98901	0.0:0.0:1.0:0.0	.	368	Q13641	TPBG_HUMAN	S	368	ENSP00000441219:A368S;ENSP00000358765:A368S;ENSP00000440049:A368S	ENSP00000358765:A368S	A	+	1	0	TPBG	83132499	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.297000	0.65704	2.820000	0.97059	0.650000	0.86243	GCT			0.468	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041340.1				T	83075780	G	T	83075780	3	4	136	1	0	0	0	0	1	0	0	0	16418	1087	38	1	1104	1	TPBG	6	83075780	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	7128076	83075780	88039287	22	10026											
DGKI	9162	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	137076063	137076063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccagcctgctgtgctCtttcttgaggtgtcttaccc	3	14	10	14	0	3	1	0	1	3	0	4	1	4	1	4	2	4	2	4	2	1	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr7:137076063C>A	ENST00000288490.5	-	34	3101	c.3101G>T	c.(3100-3102)aGa>aTa	p.R1034I	DGKI_ENST00000453654.2_Missense_Mutation_p.R703I|DGKI_ENST00000446122.1_Missense_Mutation_p.R1016I|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.R1047I	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1034					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGCTGTGCTCTTTCTTGAGG	0.443																																					p.R1034I													DGKI_ENST00000288490,NS,carcinoma,+1,2	DGKI	335	2	0			c.G3101T												93	90	91					7																	137076063		2203	4300	6503	SO:0001583	missense	9162	exon34			TGTGCTCTTTCTT	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3101G>T	7.37:g.137076063C>A	ENSP00000288490:p.Arg1034Ile		153	0	0		100	0.07	7	NM_004717	4	0	0	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733908	0.48939	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.30182	1.54;1.54;1.54	5.92	5.02	0.67125	Ankyrin repeat-containing domain (3);	0.374757	0.30676	N	0.009120	T	0.30479	0.0766	L	0.39898	1.24	0.54753	D	0.999988	P;P	0.45986	0.834;0.87	P;B	0.48598	0.583;0.382	T	0.03587	-1.1022	10	0.19147	T	0.46	.	10.373	0.44066	0.0:0.8475:0.0:0.1525	.	703;1034	E9PFX6;O75912	.;DGKI_HUMAN	I	703;951;1037;1034;1016	ENSP00000392161:R703I;ENSP00000288490:R1034I;ENSP00000399131:R1016I	ENSP00000288490:R1034I	R	-	2	0	DGKI	136726603	1.000000	0.71417	0.983000	0.44433	0.974000	0.67602	1.468000	0.35332	1.469000	0.48083	0.650000	0.86243	AGA			0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341286.3		NM_004717		A	137076063	C	A	137076063	3	1	136	1	0	0	0	0	1	0	0	0	4476	913	32	3	100	3	DGKI	7	137076063	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10		137076063	22062600	23	10027											
ABCB8	11194	broad.mit.edu;mdanderson.org	37	chr7	150741097	150741097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggggccagaagcagcGcctggccatcgcccgagccc	6	4	15	16	3	1	1	0	0	1	1	2	2	1	1	5	3	3	1	5	3	1	0			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr7:150741097G>T	ENST00000297504.6	+	16	1922	c.1856G>T	c.(1855-1857)cGc>cTc	p.R619L	ABCB8_ENST00000542328.1_Missense_Mutation_p.R514L|ABCB8_ENST00000498578.1_Missense_Mutation_p.R602L|ABCB8_ENST00000358849.4_Missense_Mutation_p.R602L|ABCB8_ENST00000356058.4_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	619	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CAGAAGCAGCGCCTGGCCATC	0.642																																					p.R602L													.	ABCB8	65		0			c.G1805T												20	20	20					7																	150741097		2197	4291	6488	SO:0001583	missense	11194	exon15			AGCAGCGCCTGGC	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1856G>T	7.37:g.150741097G>T	ENSP00000297504:p.Arg619Leu		169	0	0		76	0.05	4	NM_007188	42	0	0	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		.	.	.	.	.	.	.	.	.	.	G	32	5.156586	0.94686	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.93019	-2.55;-2.55;-2.55;-3.15	4.89	4.89	0.63831	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96024	0.8705	M	0.65498	2.005	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	0.96197	0.9142	10	0.87932	D	0	-0.3378	15.9349	0.79694	0.0:0.0:1.0:0.0	.	514;602;619;602	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	L	602;585;619;514;602	ENSP00000351717:R602L;ENSP00000297504:R619L;ENSP00000438776:R514L;ENSP00000418271:R602L	ENSP00000297504:R619L	R	+	2	0	ABCB8	150372030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.418000	0.97395	2.699000	0.92147	0.563000	0.77884	CGC			0.642	ABCB8-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351733.2		NM_007188		T	150741097	G	T	150741097	3	4	136	1	0	0	0	0	1	0	0	0	47	1087	38	1	1863	1	ABCB8	7	150741097	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	13665034	150741097	8397566	24	10028											
HTR5A	3361	mdanderson.org	37	chr7	154862923	154862923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcacgagctgtccgggcGccgctggcagctaggtcgga	5	6	18	12	5	0	0	0	0	0	0	2	2	1	1	2	5	3	5	2	5	1	1			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr7:154862923G>T	ENST00000287907.2	+	1	890	c.314G>T	c.(313-315)cGc>cTc	p.R105L	HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.R31S|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.R31S	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	105					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTGTCCGGGCGCCGCTGGCAG	0.677																																					p.R105L													.	.			0			c.G314T												47	40	42					7																	154862923		2203	4299	6502	SO:0001583	missense	3361	exon1			CCGGGCGCCGCTG		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.314G>T	7.37:g.154862923G>T	ENSP00000287907:p.Arg105Leu		35	0	0		15	0.13	2	NM_024012	0		0	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555991|4.555991	0.86231|0.86231	.|.	.|.	ENSG00000157219|ENSG00000220575	ENST00000287907|ENST00000395731;ENST00000543018	T|.	0.72051|.	-0.62|.	4.52|4.52	4.52|4.52	0.55395|0.55395	GPCR, rhodopsin-like superfamily (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77791|0.77791	0.4183|0.4183	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D|D	0.59357|0.76494	0.985|0.999	D|D	0.63283|0.66351	0.913|0.943	T|T	0.81226|0.81226	-0.1029|-0.1029	10|9	0.34782|0.87932	T|D	0.22|0	.|.	11.9524|11.9524	0.52962|0.52962	0.0833:0.0:0.9166:0.0|0.0833:0.0:0.9166:0.0	.|.	105|31	P47898|B7Z8E6	5HT5A_HUMAN|.	L|S	105|31	ENSP00000287907:R105L|.	ENSP00000287907:R105L|ENSP00000379080:R31S	R|R	+|-	2|1	0|0	HTR5A|AC093726.4	154493856|154493856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.416000|7.416000	0.80143|0.80143	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	CGC|CGC			0.677	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322240.1		NM_024012		T	154862923	G	T	154862923	3	4	136	1	0	0	0	0	1	0	0	0	7465	1087	38	1	316	1	HTR5A	7	154862923	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	4121826	154862923	4275740	25	10029											
KIF13B	23303	mdanderson.org	37	chr8	28929560	28929560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcctcgggctcggcctcagGggcggtgggcatggaccccg	3	5	18	15	5	1	0	1	0	0	0	3	1	1	1	4	7	0	2	4	7	0	0			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr8:28929560G>T	ENST00000524189.1	-	39	4833	c.4795C>A	c.(4795-4797)Cct>Act	p.P1599T	KIF13B_ENST00000404075.3_Missense_Mutation_p.P118T	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1599					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCGGCCTCAGGGGCGGTGGGC	0.781																																					p.P1599T													.	.			0			c.C4795A												1	1	1					8																	28929560		921	2266	3187	SO:0001583	missense	23303	exon39			CCTCAGGGGCGGT	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4795C>A	8.37:g.28929560G>T	ENSP00000427900:p.Pro1599Thr		12	0	0		16	0.13	2	NM_015254	2	0	0	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	6.000	0.368509	0.11352	.	.	ENSG00000197892	ENST00000524189;ENST00000523130;ENST00000404075	T;T;T	0.80824	-1.0;-1.42;-1.4	3.82	-3.08	0.05347	.	2.092830	0.02245	N	0.066177	T	0.55033	0.1895	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.013	B;B	0.17098	0.007;0.017	T	0.51140	-0.8743	10	0.07644	T	0.81	.	0.4901	0.00562	0.4016:0.1399:0.1758:0.2827	.	118;1599	B4DGY5;F8VPJ2	.;.	T	1599;191;118	ENSP00000427900:P1599T;ENSP00000429106:P191T;ENSP00000384054:P118T	ENSP00000384054:P118T	P	-	1	0	KIF13B	28985479	0.010000	0.17322	0.000000	0.03702	0.002000	0.02628	0.755000	0.26405	-0.527000	0.06374	-1.478000	0.00992	CCT			0.781	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376878.1				T	28929560	G	T	28929560	3	4	136	1	0	0	0	0	1	0	0	0	8290	1232	43	3	693	3	KIF13B	8	28929560	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		28929560	117434462	26	10030											
PXDNL	137902	mdanderson.org	37	chr8	52321586	52321586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggccgctggcacacgcgggGctggagcgcgcgaagagcat	7	3	18	13	7	0	1	0	0	0	1	0	3	0	2	1	5	2	4	1	5	1	0			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr8:52321586G>T	ENST00000356297.4	-	17	2698	c.2598C>A	c.(2596-2598)agC>agA	p.S866R	PXDNL_ENST00000543296.1_Missense_Mutation_p.S866R	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	866					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)				CACACGCGGGGCTGGAGCGCG	0.647																																					p.S866R													.	.			0			c.C2598A												23	27	26					8																	52321586		2018	4155	6173	SO:0001583	missense	137902	exon17			CGCGGGGCTGGAG		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.2598C>A	8.37:g.52321586G>T	ENSP00000348645:p.Ser866Arg		63	0	0		36	0.08	3	NM_144651	2	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606719	0.28623	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68624	-0.34;-0.34	3.55	1.7	0.24286	.	0.000000	0.64402	D	0.000008	T	0.77857	0.4193	M	0.78456	2.415	0.32573	N	0.529564	D	0.89917	1.0	D	0.91635	0.999	T	0.79227	-0.1890	10	0.87932	D	0	.	7.4388	0.27171	0.2284:0.0:0.7716:0.0	.	866	A1KZ92	PXDNL_HUMAN	R	866	ENSP00000348645:S866R;ENSP00000444865:S866R	ENSP00000348645:S866R	S	-	3	2	PXDNL	52484139	1.000000	0.71417	0.504000	0.27639	0.060000	0.15804	0.719000	0.25881	0.144000	0.18951	0.650000	0.86243	AGC			0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377905.1		NM_144651		T	52321586	G	T	52321586	3	4	136	1	0	0	0	0	1	0	0	0	12871	1194	42	2	1821	2	PXDNL	8	52321586	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	23392026	52321586	94042436	27	10031											
CPSF1	29894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	145619906	145619906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattgcagtggcacagggCggtcacgggccccttctgct	5	8	14	14	2	2	0	1	0	1	0	2	0	2	0	3	4	2	3	3	4	0	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr8:145619906C>T	ENST00000349769.3	-	31	3614	c.3520G>A	c.(3520-3522)Gcc>Acc	p.A1174T	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1174					gene expression (GO:0010467)|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)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGCACAGGGCGGTCACGGGC	0.637																																					p.A1174T	NSCLC(133;1088 1848 27708 34777 35269)												.	.			0			c.G3520A												34	32	32					8																	145619906		2199	4299	6498	SO:0001583	missense	29894	exon31			ACAGGGCGGTCAC	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3520G>A	8.37:g.145619906C>T	ENSP00000339353:p.Ala1174Thr		93	0	0		86	0.3	26	NM_013291	359	0.27	97	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436443	0.83885	.	.	ENSG00000071894	ENST00000349769	T	0.56444	0.46	4.86	4.86	0.63082	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.058453	0.64402	D	0.000002	T	0.74665	0.3746	M	0.88979	2.995	0.80722	D	1	D	0.71674	0.998	D	0.67103	0.949	T	0.79811	-0.1646	10	0.66056	D	0.02	-38.5354	13.8397	0.63430	0.0:1.0:0.0:0.0	.	1174	Q10570	CPSF1_HUMAN	T	1174	ENSP00000339353:A1174T	ENSP00000339353:A1174T	A	-	1	0	CPSF1	145590714	1.000000	0.71417	0.971000	0.41717	0.778000	0.44026	7.005000	0.76323	2.424000	0.82194	0.561000	0.74099	GCC			0.637	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291		T	145619906	C	T	145619906	3	4	136	1	0	0	0	0	1	0	0	0	3826	768	27	1	843	1	CPSF1	8	145619906	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	93298320	145619906	744116	28	10032											
KIAA0020	9933	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgaactgctttacacccTttttcccaagttttgtgata	8	18	5	10	0	1	2	0	2	1	0	2	2	2	2	2	0	3	2	2	0	4	8			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																					p.K63R													.	KIAA0020	56		0			c.A188G												259	237	244					9																	2837296		1837	4098	5935	SO:0001583	missense	9933	exon3			ACACCCTTTTTCC	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188A>G	9.37:g.2837296T>C	ENSP00000380982:p.Lys63Arg		250	0	0		133	0.04	5	NM_014878	48	0	0	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927712	0.18056	.	.	ENSG00000080608	ENST00000397885	T	0.12672	2.66	4.55	3.32	0.38043	.	0.404891	0.24027	N	0.042233	T	0.07369	0.0186	N	0.19112	0.55	0.22629	N	0.998913	B	0.10296	0.003	B	0.08055	0.003	T	0.24799	-1.0150	10	0.26408	T	0.33	-19.7444	5.606	0.17379	0.0:0.0997:0.2858:0.6145	.	63	Q15397	K0020_HUMAN	R	63	ENSP00000380982:K63R	ENSP00000380982:K63R	K	-	2	0	KIAA0020	2827296	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	1.577000	0.36515	2.041000	0.60428	0.528000	0.53228	AAG			0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051529.3		NM_014878		C	2837296	T	C	2837296	3	2	136	1	0	0	0	0	1	0	0	0	8167	1609	56	4	1822	4	KIAA0020	9	2837296	Missense_Mutation	SNP	T	TCGA-YU-A94D-01A-11D-A435-10		2837296	138376135	29	10033											
KIAA1797	54914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	20819865	20819865	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctatattatataatgataTattgtatactttacctaagc	15	17	3	6	0	0	1	0	1	0	0	0	1	0	1	2	0	3	1	2	0	11	13			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr9:20819865T>C	ENST00000380249.1	+	14	1890	c.1526T>C	c.(1525-1527)aTa>aCa	p.I509T	FOCAD_ENST00000338382.6_Missense_Mutation_p.I509T|FOCAD_ENST00000605086.1_5'Flank	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	509						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TATAATGATATATTGTATACT	0.269																																					p.I509T													.	.			0			c.T1526C												36	42	40					9																	20819865		2198	4265	6463	SO:0001583	missense	54914	exon14			ATGATATATTGTA	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.1526T>C	9.37:g.20819865T>C	ENSP00000369599:p.Ile509Thr		645	0	0		487	0.39	190	NM_017794	11	0.45	5	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.947927	0.53186	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.22945	1.93;1.93	5.34	5.34	0.76211	Domain of unknown function DUF3730 (1);	0.160346	0.53938	D	0.000046	T	0.30103	0.0754	L	0.50333	1.59	0.42414	D	0.99261	P	0.47034	0.889	B	0.43658	0.426	T	0.09907	-1.0653	10	0.72032	D	0.01	-12.8572	15.3708	0.74564	0.0:0.0:0.0:1.0	.	509	Q5VW36	K1797_HUMAN	T	509	ENSP00000369599:I509T;ENSP00000344307:I509T	ENSP00000344307:I509T	I	+	2	0	KIAA1797	20809865	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	6.449000	0.73473	2.037000	0.60232	0.524000	0.50904	ATA			0.269	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143442.1		NM_017794		C	20819865	T	C	20819865	3	2	136	1	0	0	0	0	1	0	0	0	8273	1406	49	4	1568	4	KIAA1797	9	20819865	Missense_Mutation	SNP	T	TCGA-YU-A94D-01A-11D-A435-10	17982569	20819865	120393566	30	10034											
KIAA1529	100499483	mdanderson.org	37	chr9	100128018	100128018	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacctgctgacagtcgcAgaggtgaggaccaccaccca	12	4	12	13	1	0	4	0	2	0	2	1	6	0	5	4	2	2	2	4	2	1	0			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr9:100128018A>G	ENST00000357054.1	+	42	4946	c.4011A>G	c.(4009-4011)gcA>gcG	p.A1337A	CCDC180_ENST00000529487.1_Silent_p.A1392A|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Silent_p.A1392A|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1337						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGACAGTCGCAGAGGTGAGGA	0.587																																					p.A1392A													.	.			0			c.A4176G												113	109	110					9																	100128018		2203	4300	6503	SO:0001819	synonymous_variant	0	exon30			AGTCGCAGAGGTG	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.4011A>G	9.37:g.100128018A>G			80	0	0		21	0.14	3	NM_020893	9	0	0	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																						0.587	CCDC180-201	KNOWN	basic	protein_coding	protein_coding				NM_020893		G	100128018	A	G	100128018	2	3	136	1	0	0	0	0	0	0	0	1	8255	175	7	4		4	KIAA1529	9	100128018	Silent	SNP	A	TCGA-YU-A94D-01A-11D-A435-10	79308153	100128018	41085413	31	10035											
DFNB31	25861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr9	117266554	117266554	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcagtccttccttctcagcTagagagcctggttccaccag	7	10	9	15	1	1	1	1	0	1	1	5	2	4	1	5	1	2	3	5	1	1	4			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr9:117266554T>C	ENST00000362057.3	-	1	696	c.528A>G	c.(526-528)ctA>ctG	p.L176L	DFNB31_ENST00000374057.3_Silent_p.L176L|DFNB31_ENST00000480518.1_5'UTR|DFNB31_ENST00000265134.6_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	176	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						CCTTCTCAGCTAGAGAGCCTG	0.652																																					p.L176L													.	.			0			c.A528G												81	83	82					9																	117266554		2203	4300	6503	SO:0001819	synonymous_variant	25861	exon1			CTCAGCTAGAGAG	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.528A>G	9.37:g.117266554T>C			110	0	0		50	0.34	17	NM_001173425	7	0.29	2	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	CCDS6806.1																																																																																					0.652	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053776.2		NM_015404		C	117266554	T	C	117266554	2	2	136	1	0	0	0	0	0	0	0	1	4460	1509	53	4		4	DFNB31	9	117266554	Silent	SNP	T	TCGA-YU-A94D-01A-11D-A435-10	17138536	117266554	23946877	32	10036											
KCNA4	3739	mdanderson.org	37	chr11	30033833	30033833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcttcctcctcttcCtcctcctcctcatcttcctc	1	16	0	24	0	4	0	1	0	3	0	13	0	12	0	9	0	0	0	9	0	0	3	rs369906337	byFrequency	TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr11:30033833C>T	ENST00000328224.6	-	2	1626	c.393G>A	c.(391-393)gaG>gaA	p.E131E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	131	Poly-Glu.				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)	cctcctcttcctcctcctcct	0.557													C|||	44	0.00878594	0	0	5008	,	,		18378	0		0	False		,,,				2504	0.045				p.E131E													.	.			0			c.G393A												36	37	36					11																	30033833		2191	4294	6485	SO:0001819	synonymous_variant	3739	exon2			CTCTTCCTCCTCC	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.393G>A	11.37:g.30033833C>T			76	0	0		46	0.07	3	NM_002233	1	0	0		Silent	SNP	ENST00000328224.6	37	CCDS41629.1																																																																																					0.557	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388074.2		NM_002233		T	30033833	C	T	30033833	2	4	136	1	0	0	0	0	0	0	0	1	8020	680	24	3		3	KCNA4	11	30033833	Silent	SNP	C	TCGA-YU-A94D-01A-11D-A435-10		30033833	104972683	33	10037											
C11orf9	745	mdanderson.org	37	chr11	61537721	61537721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccatctctcctgcagagcCccacctcctgcgcacgataa	8	7	6	20	2	1	1	0	0	1	1	4	2	3	1	7	0	3	2	7	0	1	1			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr11:61537721C>A	ENST00000278836.5	+	5	560	c.464C>A	c.(463-465)cCc>cAc	p.P155H	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.P146H	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	155	Pro-rich.				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)										CCTGCAGAGCCCCACCTCCTG	0.672																																					p.P155H													.	.			0			c.C464A												22	20	21					11																	61537721		2201	4299	6500	SO:0001583	missense	745	exon5			CAGAGCCCCACCT		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.464C>A	11.37:g.61537721C>A	ENSP00000278836:p.Pro155His		66	0	0		33	0.09	3	NM_001127392	26	0	0	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907825	0.52333	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.34667	1.35;1.35	4.55	4.55	0.56014	.	0.190853	0.45606	D	0.000349	T	0.47764	0.1463	L	0.27053	0.805	0.80722	D	1	P;D	0.89917	0.687;1.0	B;D	0.71184	0.259;0.972	T	0.49844	-0.8896	10	0.51188	T	0.08	-29.3233	18.2123	0.89874	0.0:1.0:0.0:0.0	.	146;155	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	H	155;146	ENSP00000278836:P155H;ENSP00000265460:P146H	ENSP00000265460:P146H	P	+	2	0	C11orf9	61294297	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	3.862000	0.56009	2.469000	0.83416	0.549000	0.68633	CCC			0.672	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000398519.2		NM_013279		A	61537721	C	A	61537721	3	1	136	1	0	0	0	0	1	0	0	0	1673	623	22	3	505	3	C11orf9	11	61537721	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	31503888	61537721	73468795	34	10038											
FERMT3	83706	mdanderson.org	37	chr11	63988602	63988602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacttcggcatctcctatGtcatggtcaggtatggcccc	6	11	10	14	2	3	0	2	0	1	0	5	1	3	0	4	4	0	2	4	4	2	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr11:63988602G>T	ENST00000279227.5	+	13	1767	c.1672G>T	c.(1672-1674)Gtc>Ttc	p.V558F	FERMT3_ENST00000345728.5_Missense_Mutation_p.V554F	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	558	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CATCTCCTATGTCATGGTCAG	0.652																																					p.V558F													.	.			0			c.G1672T												67	64	65					11																	63988602		2201	4297	6498	SO:0001583	missense	83706	exon13			TCCTATGTCATGG	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1672G>T	11.37:g.63988602G>T	ENSP00000279227:p.Val558Phe		33	0	0		13	0.15	2	NM_178443	22	0	0	Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	3.831	-0.035727	0.07497	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	T;T	0.47869	0.83;0.83	4.56	-6.92	0.01644	Band 4.1 domain (1);FERM central domain (1);Pleckstrin homology-type (1);	0.490972	0.17909	N	0.157907	T	0.14313	0.0346	N	0.02011	-0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.28586	-1.0039	10	0.02654	T	1	-17.2254	13.7815	0.63085	0.0753:0.0:0.1188:0.8059	.	554;558	Q86UX7-2;Q86UX7	.;URP2_HUMAN	F	554;558	ENSP00000339950:V554F;ENSP00000279227:V558F	ENSP00000279227:V558F	V	+	1	0	FERMT3	63745178	0.000000	0.05858	0.000000	0.03702	0.451000	0.32288	-0.445000	0.06845	-1.389000	0.02090	0.462000	0.41574	GTC			0.652	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000396297.1		NM_031471		T	63988602	G	T	63988602	3	4	136	1	0	0	0	0	1	0	0	0	5832	1377	48	3	1718	3	FERMT3	11	63988602	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	2450881	63988602	71017914	35	10039											
CCDC88B	283234	mdanderson.org	37	chr11	64116835	64116835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggtgcggggcaaggaGttgggggaccggctggagca	6	6	22	7	2	0	0	0	0	0	0	0	3	0	3	1	8	2	5	1	8	1	1			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr11:64116835G>T	ENST00000356786.5	+	15	2693	c.2649G>T	c.(2647-2649)gaG>gaT	p.E883D	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E35D|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	883						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCAAGGAGTTGGGGGACC	0.637																																					p.E883D													.	.			0			c.G2649T												22	27	25					11																	64116835		2198	4296	6494	SO:0001583	missense	283234	exon15			CAAGGAGTTGGGG	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2649G>T	11.37:g.64116835G>T	ENSP00000349238:p.Glu883Asp		81	0	0		34	0.12	4	NM_032251	6	0	0	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	14.50	2.553379	0.45487	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.50001	1.85;0.76	3.68	0.221	0.15283	.	.	.	.	.	T	0.49830	0.1580	L	0.56769	1.78	0.80722	D	1	P;D;D;P	0.61697	0.893;0.958;0.99;0.893	B;P;P;B	0.54889	0.446;0.763;0.719;0.446	T	0.50857	-0.8778	9	0.72032	D	0.01	.	4.9336	0.13930	0.133:0.4309:0.4361:0.0	.	883;19;532;883	B2RTU8;A6NC98-5;A6NC98-3;A6NC98	.;.;.;CC88B_HUMAN	D	883;883;35	ENSP00000349238:E883D;ENSP00000352974:E35D	ENSP00000349238:E883D	E	+	3	2	CCDC88B	63873411	1.000000	0.71417	0.999000	0.59377	0.292000	0.27327	1.675000	0.37555	0.300000	0.22699	0.539000	0.68188	GAG			0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000104845.1		NM_032251		T	64116835	G	T	64116835	3	4	136	1	0	0	0	0	1	0	0	0	2866	1020	36	3	2707	3	CCDC88B	11	64116835	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	128233	64116835	70889681	36	10040											
TPCN2	219931	mdanderson.org	37	chr11	68837924	68837924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcgtattccaagaacCgggcctatgccatcttcttc	7	13	7	14	2	2	1	0	0	2	1	5	1	4	1	5	1	3	1	5	1	4	6			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr11:68837924C>T	ENST00000294309.3	+	9	957	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	TPCN2_ENST00000542467.1_Missense_Mutation_p.R286W|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	286					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCAAGAACCGGGCCTATGC	0.468																																					p.R286W													.	.			0			c.C856T												165	152	156					11																	68837924		2200	4294	6494	SO:0001583	missense	219931	exon9			AAGAACCGGGCCT	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.856C>T	11.37:g.68837924C>T	ENSP00000294309:p.Arg286Trp		80	0	0		21	0.1	2	NM_139075	25	0	0	Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	c	17.37	3.371546	0.61624	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.97480	-4.4;-4.4	4.33	4.33	0.51752	Ion transport (1);	0.149534	0.45606	D	0.000357	D	0.98302	0.9437	M	0.85197	2.74	0.49299	D	0.999771	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98971	1.0801	10	0.87932	D	0	-38.5141	12.7915	0.57537	0.1645:0.8355:0.0:0.0	.	286;286;201	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	W	216;286;201;286	ENSP00000294309:R286W;ENSP00000445551:R286W	ENSP00000294309:R286W	R	+	1	2	TPCN2	68594500	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.378000	0.44309	2.133000	0.65898	0.457000	0.33378	CGG			0.468	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396878.2		NM_139075		T	68837924	C	T	68837924	3	4	136	1	0	0	0	0	1	0	0	0	16420	643	23	1	890	1	TPCN2	11	68837924	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	4721089	68837924	66168592	37	10041											
SRPR	6734	bcgsc.ca	37	chr11	126136799	126136799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggactggtttgctggtaGccaaaggaccatcagaacct	11	8	12	10	0	1	1	1	0	0	1	1	3	1	3	3	4	3	3	3	4	3	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr11:126136799G>T	ENST00000332118.6	-	5	699	c.545C>A	c.(544-546)gCt>gAt	p.A182D	SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.A154D|FOXRED1_ENST00000442061.2_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	182					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)	p.A182D(1)		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)		TTTGCTGGTAGCCAAAGGACC	0.478																																					p.A182D													SRPR,NS,carcinoma,0,2	SRPR	60	2	1	Substitution - Missense(1)	prostate(1)	c.C545A												71	76	74					11																	126136799		2201	4299	6500	SO:0001583	missense	6734	exon5			CTGGTAGCCAAAG	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.545C>A	11.37:g.126136799G>T	ENSP00000328023:p.Ala182Asp		279	0.0215053763	6		152	0.06	9	NM_003139	146	0.02	3	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704856	0.30232	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	6.07	4.22	0.49857	Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.603639	0.19178	N	0.120775	T	0.41166	0.1147	L	0.54323	1.7	0.25222	N	0.989898	B;B	0.18013	0.025;0.001	B;B	0.22152	0.038;0.004	T	0.31024	-0.9958	9	0.09590	T	0.72	-1.1549	12.7511	0.57308	0.1337:0.0:0.8663:0.0	.	154;182	E9PJS4;P08240	.;SRPR_HUMAN	D	182;154	.	ENSP00000328023:A182D	A	-	2	0	SRPR	125642009	0.000000	0.05858	0.994000	0.49952	0.998000	0.95712	0.538000	0.23160	0.906000	0.36621	0.655000	0.94253	GCT			0.478	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386425.2		NM_003139		T	126136799	G	T	126136799	3	4	136	1	0	0	0	0	1	0	0	0	15185	971	34	2	1411	2	SRPR	11	126136799	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	57298875	126136799	8869717	38	10042											
LRP6	4040	broad.mit.edu	37	chr12	12317329	12317329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtttccagagaaattcGtctgatatctgctctccgtg	7	16	9	9	2	3	2	0	1	3	1	6	3	4	2	2	0	1	3	2	0	2	4			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr12:12317329G>C	ENST00000261349.4	-	9	2006	c.1930C>G	c.(1930-1932)Cga>Gga	p.R644G	LRP6_ENST00000543091.1_Missense_Mutation_p.R644G	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	644	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R644*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGAGAAATTCGTCTGATATCT	0.423																																					p.R644G													LRP6,NS,carcinoma,+1,2	LRP6	170	2	1	Substitution - Nonsense(1)	lung(1)	c.C1930G												104	103	103					12																	12317329		2203	4300	6503	SO:0001583	missense	4040	exon9			AAATTCGTCTGAT	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1930C>G	12.37:g.12317329G>C	ENSP00000261349:p.Arg644Gly		150	0	0		198	0.03	5	NM_002336	32	0	0	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635533	0.67130	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91407	-2.84;-2.84	5.65	1.63	0.23807	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	D	0.000034	D	0.86896	0.6043	L	0.52905	1.665	0.58432	D	0.999998	P;P	0.48503	0.496;0.911	B;B	0.41646	0.09;0.362	T	0.82116	-0.0616	10	0.13108	T	0.6	.	16.3637	0.83296	0.0:0.0:0.4057:0.5943	.	644;644	F5H7J9;O75581	.;LRP6_HUMAN	G	644	ENSP00000261349:R644G;ENSP00000442472:R644G	ENSP00000261349:R644G	R	-	1	2	LRP6	12208596	0.992000	0.36948	0.998000	0.56505	0.987000	0.75469	1.614000	0.36911	0.088000	0.17205	-0.169000	0.13324	CGA			0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400137.1				C	12317329	G	C	12317329	3	2	136	1	0	0	0	0	1	0	0	0	8978	1153	40	5	2971	5	LRP6	12	12317329	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		12317329	121534566	39	10043											
HAL	3034	mdanderson.org	37	chr12	96389642	96389642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagctgcgcgtcctggcagGgcactgccagccattcccca	6	7	12	16	2	0	1	0	1	0	0	2	1	2	1	5	2	4	3	5	2	0	1	rs188894951	byFrequency	TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr12:96389642G>T	ENST00000261208.3	-	2	415	c.47C>A	c.(46-48)cCc>cAc	p.P16H	RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.P16H	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	16					biosynthetic process (GO:0009058)|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)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTCCTGGCAGGGCACTGCCAG	0.627																																					p.P16H	NSCLC(169;943 2815 23563 30031)												.	.			0			c.C47A												33	28	30					12																	96389642		2202	4292	6494	SO:0001583	missense	3034	exon2			TGGCAGGGCACTG		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.47C>A	12.37:g.96389642G>T	ENSP00000261208:p.Pro16His		29	0	0		19	0.16	3	NM_002108	0		0	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780916	0.70222	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	D;D;D	0.93133	-2.13;-1.97;-3.17	5.2	5.2	0.72013	.	0.047154	0.85682	D	0.000000	D	0.96571	0.8881	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.983;0.991	D	0.96930	0.9680	10	0.87932	D	0	-15.7548	19.0765	0.93165	0.0:0.0:1.0:0.0	.	16;16	F5GXF2;P42357	.;HUTH_HUMAN	H	16	ENSP00000261208:P16H;ENSP00000440861:P16H;ENSP00000450372:P16H	ENSP00000261208:P16H	P	-	2	0	HAL	94913773	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	9.420000	0.97426	2.582000	0.87167	0.491000	0.48974	CCC			0.627	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408644.1				T	96389642	G	T	96389642	3	4	136	1	0	0	0	0	1	0	0	0	6962	1232	43	3	2006	3	HAL	12	96389642	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	84072313	96389642	37462253	40	10044											
EID3	493861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	104698695	104698695	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaatttctgaggctatgaTtacatactcctcatactaaa	14	14	5	8	0	2	3	1	3	1	0	3	3	3	3	1	1	3	1	1	1	7	6			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr12:104698695T>A	ENST00000527879.1	+	1	1179	c.983T>A	c.(982-984)aTt>aAt	p.I328N	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_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						GAGGCTATGATTACATACTCC	0.348																																					p.I328N													.	.			0			c.T983A												52	51	51					12																	104698695		1812	4080	5892	SO:0001583	missense	493861	exon1			CTATGATTACATA	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.983T>A	12.37:g.104698695T>A	ENSP00000435619:p.Ile328Asn		184	0	0		87	0.53	46	NM_001008394	1	0	0		Missense_Mutation	SNP	ENST00000527879.1	37	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730110	0.48939	.	.	ENSG00000255150	ENST00000527879	T	0.64991	-0.13	4.72	4.72	0.59763	.	.	.	.	.	T	0.76644	0.4016	M	0.73962	2.25	0.38455	D	0.947066	D	0.89917	1.0	D	0.97110	1.0	T	0.80953	-0.1152	9	0.87932	D	0	.	10.8355	0.46685	0.0:0.0:0.0:1.0	.	328	Q8N140	EID3_HUMAN	N	328	ENSP00000435619:I328N	ENSP00000435619:I328N	I	+	2	0	EID3	103222825	0.997000	0.39634	0.970000	0.41538	0.411000	0.31082	3.958000	0.56737	2.124000	0.65301	0.454000	0.30748	ATT			0.348	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387034.1		NM_001008394		A	104698695	T	A	104698695	3	1	136	1	0	0	0	0	1	0	0	0	4994	1493	52	5	985	5	EID3	12	104698695	Missense_Mutation	SNP	T	TCGA-YU-A94D-01A-11D-A435-10	8309053	104698695	29153200	41	10045											
DIS3	22894	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr13	73335570	73335571	+	Frame_Shift_Del	DEL	AT	AT	-																															aagactgtcccttctaaaccAtactttggaattaataccac																										TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	AT	AT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr13:73335570_73335571delAT	ENST00000377767.4	-	19	2700_2701	c.2600_2601delAT	c.(2599-2601)tatfs	p.Y867fs	DIS3_ENST00000377780.4_Frame_Shift_Del_p.Y837fs|DIS3_ENST00000545453.1_Frame_Shift_Del_p.Y705fs	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	867					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)	p.Y867C(1)		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)		CTTCTAAACCATACTTTGGAAT	0.317										Multiple Myeloma(4;0.011)																											p.867_868del													.	DIS3	103		1	Substitution - Missense(1)	kidney(1)	c.2601_2602del																																									SO:0001589	frameshift_variant	22894	exon19			TAAACCATACTTT	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.2600_2601delAT	13.37:g.73335570_73335571delAT	ENSP00000366997:p.Tyr867fs		153	0	0		105	0.3	32	NM_014953	41	0	0	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Frame_Shift_Del	DEL	ENST00000377767.4	37	CCDS9447.1																																																																																					0.317	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045250.2		NM_014953		-	73335571	AT	-	73335570	7	5	136	1	0	1	0	1	0	0	0	0	4540	224	8	0	287	0	DIS3	13	73335570	Frame_Shift_Del	DEL	AT	TCGA-YU-A94D-01A-11D-A435-10		73335570	41834308	42	10046											
MYCBP2	23077	bcgsc.ca;mdanderson.org	37	chr13	77742671	77742671	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaggctggtttcctgtGgtgctatctgtcgactgatt	4	17	12	8	1	2	1	1	1	1	0	4	2	3	1	1	3	1	4	1	3	1	4			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr13:77742671G>T	ENST00000544440.2	-	40	5909	c.5892C>A	c.(5890-5892)acC>acA	p.T1964T	MYCBP2_ENST00000407578.2_Silent_p.T2002T|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.T1964T					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)		GGTTTCCTGTGGTGCTATCTG	0.498																																					p.T2002T													.	MYCBP2	1029		0			c.C6006A												248	214	226					13																	77742671		2203	4300	6503	SO:0001819	synonymous_variant	23077	exon40			TCCTGTGGTGCTA	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.5892C>A	13.37:g.77742671G>T			208	0.0048076923	1		129	0.05	6	NM_015057	5	0	0		Silent	SNP	ENST00000544440.2	37																																																																																						0.498	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000045326.1		NM_015057		T	77742671	G	T	77742671	2	4	136	1	0	0	0	0	0	0	0	1	10034	1335	47	3		3	MYCBP2	13	77742671	Silent	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	4407101	77742671	37427207	43	10047											
SOCS4	122809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr14	55509766	55509766	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatttgttaacatggcaGaaaataatgaaaatattagt	19	13	7	2	0	0	2	0	1	0	1	0	3	0	2	0	1	1	2	0	1	9	6			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr14:55509766G>T	ENST00000395472.2	+	2	339	c.7G>T	c.(7-9)Gaa>Taa	p.E3*	SOCS4_ENST00000339298.2_Nonsense_Mutation_p.E3*|SOCS4_ENST00000555846.1_Nonsense_Mutation_p.E3*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	3					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TAACATGGCAGAAAATAATGA	0.353																																					p.E3X													.	.			0			c.G7T												50	55	54					14																	55509766		2202	4297	6499	SO:0001587	stop_gained	122809	exon2			ATGGCAGAAAATA	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.7G>T	14.37:g.55509766G>T	ENSP00000378855:p.Glu3*		107	0	0		58	0.47	27	NM_080867	8	0.25	2		Nonsense_Mutation	SNP	ENST00000395472.2	37	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975801	0.92982	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-18.1527	18.6508	0.91430	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	ENSP00000341327:E3X	E	+	1	0	SOCS4	54579519	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.665000	0.74442	2.409000	0.81822	0.655000	0.94253	GAA			0.353	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276910.1				T	55509766	G	T	55509766	4	4	136	1	0	0	0	0	0	1	0	0	14939	943	33	3	9	3	SOCS4	14	55509766	Nonsense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		55509766	51839774	44	10048											
TTC9	23508	mdanderson.org	37	chr14	71109248	71109248	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgactgttacaacagcctGgcaggtgagccgcgccgcgc	8	6	13	14	5	0	1	0	1	0	0	1	2	0	1	3	2	4	2	3	2	2	1			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr14:71109248G>T	ENST00000256367.2	+	1	745	c.402G>T	c.(400-402)ctG>ctT	p.L134L	CTD-2540L5.6_ENST00000500016.1_lincRNA|CTD-2540L5.5_ENST00000553982.1_lincRNA	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	134										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		ACAACAGCCTGGCAGGTGAgc	0.741																																					p.L134L													.	.			0			c.G402T												6	9	8					14																	71109248		1444	3162	4606	SO:0001819	synonymous_variant	23508	exon1			CAGCCTGGCAGGT	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"Tetratricopeptide (TTC) repeat domain containing"	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.402G>T	14.37:g.71109248G>T			53	0	0		19	0.11	2	NM_015351	13	0	0	Q86WT2	Silent	SNP	ENST00000256367.2	37	CCDS45132.1																																																																																					0.741	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417024.1		XM_027236		T	71109248	G	T	71109248	2	4	136	1	0	0	0	0	0	0	0	1	16739	1335	47	3		3	TTC9	14	71109248	Silent	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	15599482	71109248	36240292	45	10049											
C14orf145	145508	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	81297580	81297612	+	In_Frame_Del	DEL	CAGCTGCACTCTCAAATCTGACATTTGCTTCTC	CAGCTGCACTCTCAAATCTGACATTTGCTTCTC	-																															gatgccattgcgctgaagttCagctgcactctcaaatctga																								rs185240818|rs576674359		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	CAGCTGCACTCTCAAATCTGACATTTGCTTCTC	CAGCTGCACTCTCAAATCTGACATTTGCTTCTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr14:81297580_81297612delCAGCTGCACTCTCAAATCTGACATTTGCTTCTC	ENST00000555265.1	-	13	1459_1491	c.1084_1116delGAGAAGCAAATGTCAGATTTGAGAGTGCAGCTG	c.(1084-1116)gagaagcaaatgtcagatttgagagtgcagctgdel	p.EKQMSDLRVQL362del	CEP128_ENST00000216517.6_In_Frame_Del_p.EKQMSDLRVQL362del|CEP128_ENST00000281129.3_In_Frame_Del_p.EKQMSDLRVQL362del			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	362						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						CGCTGAAGTTCAGCTGCACTCTCAAATCTGACATTTGCTTCTCCAGGTCCTGT	0.425																																					p.362_373del													.	CEP128	146		0			c.1085_1117del																																									SO:0001651	inframe_deletion	145508	exon12			GAAGTTCAGCTGC	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.1084_1116delGAGAAGCAAATGTCAGATTTGAGAGTGCAGCTG	14.37:g.81297580_81297612delCAGCTGCACTCTCAAATCTGACATTTGCTTCTC	ENSP00000451162:p.Glu362_Leu372del		450	0	0		193	0.16	30	NM_152446	4	0	0	B9EK52|Q86X97|Q96ML4	In_Frame_Del	DEL	ENST00000555265.1	37	CCDS32130.1																																																																																					0.425	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413415.1		NM_152446		-	81297612	CAGCTGCACTCTCAAATCTGACATTTGCTTCTC	-	81297580	7	5	136	1	0	1	0	1	0	0	0	0	1751	813	29	0	2220	0	C14orf145	14	81297580	In_Frame_Del	DEL	CAGCTGCACTCTCAAATCTGACATTTGCTTCTC	TCGA-YU-A94D-01A-11D-A435-10	10188332	81297580	26051960	46	10050											
CDC42BPB	9578	mdanderson.org	37	chr14	103416135	103416135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggctcgcaatgacaccaGgctgggtggattttccttca	7	12	11	11	1	1	1	1	1	0	0	3	2	2	2	2	4	0	3	2	4	1	4			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr14:103416135G>T	ENST00000361246.2	-	26	3704	c.3416C>A	c.(3415-3417)cCt>cAt	p.P1139H		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AATGACACCAGGCTGGGTGGA	0.537																																					p.P1139H													.	.			0			c.C3416A												149	123	132					14																	103416135		2203	4300	6503	SO:0001583	missense	9578	exon26			ACACCAGGCTGGG	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3416C>A	14.37:g.103416135G>T	ENSP00000355237:p.Pro1139His		114	0	0		45	0.07	3	NM_006035	91	0	0		Missense_Mutation	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758520	0.89843	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	T	0.42513	0.97	5.32	5.32	0.75619	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.103679	0.64402	D	0.000002	T	0.70649	0.3248	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.947	T	0.76091	-0.3086	10	0.87932	D	0	.	19.3479	0.94372	0.0:0.0:1.0:0.0	.	1139;1139	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	H	1139;250	ENSP00000355237:P1139H	ENSP00000355237:P1139H	P	-	2	0	CDC42BPB	102485888	1.000000	0.71417	0.961000	0.40146	0.871000	0.50021	7.818000	0.86416	2.650000	0.89964	0.561000	0.74099	CCT			0.537	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415711.1		NM_006035		T	103416135	G	T	103416135	3	4	136	1	0	0	0	0	1	0	0	0	3075	1000	35	3	1767	3	CDC42BPB	14	103416135	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	22118555	103416135	3933405	47	10051											
HCN4	10021	mdanderson.org	37	chr15	73615969	73615969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtttcaggtgccttggcGtctgcccggcaccgaggttg	3	10	15	13	4	2	0	1	0	1	0	2	1	2	0	4	4	2	3	4	4	0	3	rs201143364	byFrequency	TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr15:73615969G>T	ENST00000261917.3	-	8	3458	c.2465C>A	c.(2464-2466)aCg>aAg	p.T822K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	822					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGCCTTGGCGTCTGCCCGGC	0.682																																					p.T822K													.	.			0			c.C2465A												30	34	33					15																	73615969		2196	4294	6490	SO:0001583	missense	10021	exon8			CTTGGCGTCTGCC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2465C>A	15.37:g.73615969G>T	ENSP00000261917:p.Thr822Lys		27	0	0		20	0.1	2	NM_005477	1	0	0	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673384	0.29693	.	.	ENSG00000138622	ENST00000261917	T	0.80393	-1.37	3.49	3.49	0.39957	.	.	.	.	.	T	0.67599	0.2910	N	0.22421	0.69	0.35920	D	0.831711	P	0.44690	0.841	B	0.38712	0.28	T	0.71932	-0.4443	9	0.22109	T	0.4	.	15.1773	0.72924	0.0:0.0:1.0:0.0	.	822	Q9Y3Q4	HCN4_HUMAN	K	822	ENSP00000261917:T822K	ENSP00000261917:T822K	T	-	2	0	HCN4	71403022	0.999000	0.42202	0.988000	0.46212	0.208000	0.24298	2.801000	0.47908	1.766000	0.52107	0.462000	0.41574	ACG			0.682	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268900.2		NM_005477		T	73615969	G	T	73615969	3	4	136	1	0	0	0	0	1	0	0	0	7014	1145	40	1	1150	1	HCN4	15	73615969	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		73615969	28915423	48	10052											
ADAMTS17	170691	ucsc.edu	37	chr15	100636613	100636613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtggcaggtcttgccGtccccgctgcagaccccgca	7	6	11	17	3	1	1	0	0	1	1	2	1	2	1	6	2	2	4	6	2	1	1	rs141443664		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr15:100636613G>A	ENST00000268070.4	-	15	2190	c.2085C>T	c.(2083-2085)gaC>gaT	p.D695D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	695	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGGTCTTGCCGTCCCCGCTGC	0.592																																					p.D695D													.	ADAMTS17	127		0			c.C2085T							G		0,4406		0,0,2203	94	101	99		2085	-3.6	0.9	15	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS17	NM_139057.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		695/1096	100636613	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	170691	exon15			CTTGCCGTCCCCG	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2085C>T	15.37:g.100636613G>A			61	0	0		47	0.09	4	NM_139057	8	0	0	Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	CCDS10383.1																																																																																					0.592	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313595.1		NM_139057		A	100636613	G	A	100636613	2	1	136	1	0	0	0	0	0	0	0	1	262	1136	40	1		1	ADAMTS17	15	100636613	Silent	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	27020644	100636613	1894779	49	10053											
MAPK8IP3	23162	mdanderson.org	37	chr16	1817206	1817206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggccacccgcaccacTccatccgctgcatggctgtt	6	8	9	18	2	0	0	0	0	0	0	2	0	2	0	6	2	1	5	6	2	0	1			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr16:1817206T>C	ENST00000250894.4	+	26	3299	c.3142T>C	c.(3142-3144)Tcc>Ccc	p.S1048P	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S1042P	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1048					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCGCACCACTCCATCCGCTG	0.617																																					p.S1048P													.	.			0			c.T3142C												84	96	92					16																	1817206		2154	4261	6415	SO:0001583	missense	23162	exon26			CACCACTCCATCC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3142T>C	16.37:g.1817206T>C	ENSP00000250894:p.Ser1048Pro		153	0	0		52	0.06	3	NM_015133	109	0.01	1	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004547	0.74932	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.63580	-0.05;-0.05	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.130964	0.53938	D	0.000048	T	0.67832	0.2935	L	0.31578	0.945	0.80722	D	1	P;D;D	0.89917	0.772;1.0;0.998	P;D;D	0.79784	0.593;0.991;0.993	T	0.71613	-0.4540	10	0.72032	D	0.01	-23.8006	12.9591	0.58447	0.0:0.0:0.0:1.0	.	1049;1042;1048	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	P	1048;1042	ENSP00000250894:S1048P;ENSP00000348290:S1042P	ENSP00000250894:S1048P	S	+	1	0	MAPK8IP3	1757207	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	7.811000	0.86092	1.610000	0.50200	0.482000	0.46254	TCC			0.617	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250508.2		NM_001040439		C	1817206	T	C	1817206	3	2	136	1	0	0	0	0	1	0	0	0	9302	1551	54	4	3260	4	MAPK8IP3	16	1817206	Missense_Mutation	SNP	T	TCGA-YU-A94D-01A-11D-A435-10		1817206	88537547	50	10054											
NTHL1	7249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	2094711	2094711	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccaccgtcaggccccGcgcccgcagtcgctgcatgg	4	6	13	18	5	1	0	1	0	0	0	3	0	2	0	5	2	1	4	5	2	0	0	rs376048896		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr16:2094711G>A	ENST00000219476.3	+	0	0				NTHL1_ENST00000562951.1_5'Flank|NTHL1_ENST00000219066.1_Missense_Mutation_p.R157W	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTCAGGCCCCGCGCCCGCAGT	0.637			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																												p.R157W			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	.	.			0			c.C469T							G	TRP/ARG	0,4394		0,0,2197	46	36	39		469	3.3	0.4	16		39	1,8597	1.2+/-3.3	0,1,4298	no	missense	NTHL1	NM_002528.5	101	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	157/313	2094711	1,12991	2197	4299	6496	SO:0001631	upstream_gene_variant	4913	exon3	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	GGCCCCGCGCCCG	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2094711G>A	Exception_encountered		75	0	0		35	0.43	15	NM_002528	98	0.45	44	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338113	0.41398	0.0	1.16E-4	ENSG00000065057	ENST00000219066	D	0.88046	-2.33	5.44	3.27	0.37495	HhH-GPD domain (2);DNA glycosylase (2);	0.417646	0.25941	N	0.027303	D	0.89298	0.6675	M	0.93062	3.375	0.09310	N	1	B;B	0.19583	0.037;0.037	B;B	0.21546	0.035;0.035	D	0.83699	0.0181	10	0.62326	D	0.03	-6.67	11.3574	0.49623	0.0746:0.0:0.7921:0.1333	.	157;157	E5KTI5;P78549	.;NTHL1_HUMAN	W	157	ENSP00000219066:R157W	ENSP00000219066:R157W	R	-	1	2	NTHL1	2034712	0.767000	0.28508	0.382000	0.26119	0.922000	0.55478	4.256000	0.58810	1.300000	0.44818	0.561000	0.74099	CGG			0.637	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250657.2		NM_000548		A	2094711	G	A	2094711	1	1	136	0	1	0	0	0	0	0	0	0	10715	1086	38	1		1	NTHL1	16	2094711	5'Flank	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	277505	2094711	88260042	51	10055											
SEZ6L2	26470	mdanderson.org	37	chr16	29888693	29888693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaggagagaaggcggCggcgcggctgaggtccccgc	7	2	19	13	5	0	3	0	1	0	2	1	5	1	4	3	6	0	1	3	6	1	0			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr16:29888693C>A	ENST00000308713.5	-	11	2335	c.1808G>T	c.(1807-1809)cGc>cTc	p.R603L	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R533L|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R559L|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R489L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	603	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGAAGGCGGCGGCGCGGCTG	0.662																																					p.R603L													.	.			0			c.G1808T												16	19	18					16																	29888693		2192	4294	6486	SO:0001583	missense	26470	exon11			AGGCGGCGGCGCG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1808G>T	16.37:g.29888693C>A	ENSP00000312550:p.Arg603Leu		132	0	0		35	0.09	3	NM_001243332	32	0	0	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709589	0.68730	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.57	4.62	0.57501	CUB (5);	0.109017	0.41605	D	0.000849	T	0.15219	0.0367	L	0.29908	0.895	0.39019	D	0.959701	B;P;P;P;P;P	0.42248	0.275;0.774;0.729;0.683;0.729;0.732	B;P;B;B;B;B	0.46479	0.176;0.518;0.239;0.309;0.436;0.384	T	0.11690	-1.0577	10	0.28530	T	0.3	.	6.9666	0.24627	0.2739:0.6436:0.0:0.0825	.	559;603;489;533;603;533	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	L	533;603;489;559	ENSP00000310206:R533L;ENSP00000312550:R603L;ENSP00000319215:R489L;ENSP00000439412:R559L	ENSP00000312550:R603L	R	-	2	0	SEZ6L2	29796194	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.537000	0.36083	1.354000	0.45846	0.655000	0.94253	CGC			0.662	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255154.2		NM_012410		A	29888693	C	A	29888693	3	1	136	1	0	0	0	0	1	0	0	0	14167	768	27	1	995	1	SEZ6L2	16	29888693	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	27793982	29888693	60466060	52	10056											
RRAD	6236	mdanderson.org	37	chr16	66957613	66957613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtggccgggcaaccagCggcccccgtcctggagaaca	8	4	14	15	3	0	1	0	0	0	1	1	2	1	1	5	4	4	2	5	4	2	0	rs533912019		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr16:66957613C>T	ENST00000299759.6	-	4	705	c.455G>A	c.(454-456)cGc>cAc	p.R152H	RRAD_ENST00000420652.1_Missense_Mutation_p.R152H			P55042	RAD_HUMAN	Ras-related associated with diabetes	152					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGGCAACCAGCGGCCCCCGTC	0.607													C|||	1	0.000199681	0	0	5008	,	,		18655	0		0	False		,,,				2504	0.001				p.R152H													RRAD,colon,carcinoma,-1,1	RRAD	-1	1	0			c.G455A												91	94	93					16																	66957613		2200	4300	6500	SO:0001583	missense	6236	exon4			AACCAGCGGCCCC	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.455G>A	16.37:g.66957613C>T	ENSP00000299759:p.Arg152His		112	0	0		47	0.06	3	NM_001128850	13	0	0	Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	8.894	0.954599	0.18431	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.77877	-1.13;-1.13	4.81	-4.7	0.03288	Small GTP-binding protein domain (1);	0.533159	0.22760	N	0.055977	T	0.59742	0.2216	L	0.35542	1.07	0.24338	N	0.994977	B	0.13145	0.007	B	0.09377	0.004	T	0.45381	-0.9265	10	0.42905	T	0.14	.	8.633	0.33930	0.1276:0.1438:0.0:0.7285	.	152	P55042	RAD_HUMAN	H	152	ENSP00000388744:R152H;ENSP00000299759:R152H	ENSP00000299759:R152H	R	-	2	0	RRAD	65515114	0.991000	0.36638	0.014000	0.15608	0.034000	0.12701	0.542000	0.23222	-0.713000	0.04981	-1.272000	0.01410	CGC			0.607	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268830.1		NM_004165		T	66957613	C	T	66957613	3	4	136	1	0	0	0	0	1	0	0	0	13694	768	27	1	479	1	RRAD	16	66957613	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	37068920	66957613	23397140	53	10057											
IL34	146433	mdanderson.org	37	chr16	70680870	70680870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgccccggggcttcacctGgctgcgctgtgagtactggg	4	9	15	13	2	1	1	1	1	0	0	1	1	1	1	3	4	3	4	3	4	1	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr16:70680870G>T	ENST00000288098.2	+	1	403	c.20G>T	c.(19-21)tGg>tTg	p.W7L	IL34_ENST00000429149.2_Missense_Mutation_p.W7L|IL34_ENST00000569641.1_3'UTR	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	7					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GGCTTCACCTGGCTGCGCTGT	0.632																																					p.W7L													.	.			0			c.G20T												36	32	34					16																	70680870		2103	4107	6210	SO:0001583	missense	146433	exon2			TCACCTGGCTGCG	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.20G>T	16.37:g.70680870G>T	ENSP00000288098:p.Trp7Leu		62	0	0		39	0.08	3	NM_001172772	0		0	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942673	0.73672	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.44482	0.92;0.92	5.38	3.4	0.38934	.	0.270733	0.31859	N	0.006958	T	0.38295	0.1035	M	0.75447	2.3	0.23266	N	0.998012	P;P	0.36535	0.557;0.557	B;B	0.33620	0.167;0.167	T	0.34004	-0.9846	10	0.41790	T	0.15	-15.946	7.5561	0.27824	0.0874:0.0:0.7452:0.1675	.	7;7	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	L	7	ENSP00000397863:W7L;ENSP00000288098:W7L	ENSP00000288098:W7L	W	+	2	0	IL34	69238371	0.590000	0.26815	0.999000	0.59377	0.949000	0.60115	1.887000	0.39698	1.422000	0.47177	-0.132000	0.14878	TGG			0.632	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268971.3		NM_152456		T	70680870	G	T	70680870	3	4	136	1	0	0	0	0	1	0	0	0	7709	1357	47	3	22	3	IL34	16	70680870	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	3723257	70680870	19673883	54	10058											
CHST4	10164	mdanderson.org	37	chr16	71571321	71571321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccctactatgtgatgcaGgtcatctgccaaagccagct	11	9	8	13	0	2	1	1	1	1	0	2	1	2	1	3	1	6	2	3	1	4	2	rs556276390		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr16:71571321G>T	ENST00000338482.5	+	3	1084	c.741G>T	c.(739-741)caG>caT	p.Q247H	RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.Q247H|CHST4_ENST00000572450.1_Missense_Mutation_p.Q247H			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	247					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ATGTGATGCAGGTCATCTGCC	0.532											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q247H													.	.			0			c.G741T												97	80	86					16																	71571321		2198	4300	6498	SO:0001583	missense	10164	exon2			GATGCAGGTCATC	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.741G>T	16.37:g.71571321G>T	ENSP00000341206:p.Gln247His		104	0	0	1131	52	0.06	3	NM_001166395	3	0	0	Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647242	0.67358	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.82893	-1.66;-1.66	6.02	1.21	0.21127	Sulfotransferase domain (1);	0.269234	0.37906	N	0.001883	D	0.85639	0.5743	M	0.68952	2.095	0.29694	N	0.840677	D	0.53619	0.961	P	0.62649	0.905	T	0.78907	-0.2019	10	0.59425	D	0.04	-38.3275	5.0698	0.14600	0.354:0.1522:0.4938:0.0	.	247	Q8NCG5	CHST4_HUMAN	H	247	ENSP00000341206:Q247H;ENSP00000441204:Q247H	ENSP00000341206:Q247H	Q	+	3	2	CHST4	70128822	1.000000	0.71417	0.956000	0.39512	0.903000	0.53119	1.606000	0.36826	0.386000	0.24997	0.655000	0.94253	CAG			0.532	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268992.4		NM_005769		T	71571321	G	T	71571321	3	4	136	1	0	0	0	0	1	0	0	0	3408	991	35	3	743	3	CHST4	16	71571321	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	890451	71571321	18783432	55	10059											
DPEP1	1800	mdanderson.org	37	chr16	89702799	89702799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgtatgtcaccagcaGtgcaggtggggtcctgacct	6	11	12	12	0	1	1	1	1	0	0	3	1	3	1	4	3	2	3	4	3	1	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr16:89702799G>T	ENST00000393092.3	+	4	656	c.365G>T	c.(364-366)aGt>aTt	p.S122I	DPEP1_ENST00000421184.1_Missense_Mutation_p.S122I|DPEP1_ENST00000261615.4_Missense_Mutation_p.S122I	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	122					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTCACCAGCAGTGCAGGTGGG	0.632																																					p.S122I													.	.			0			c.G365T												62	50	54					16																	89702799		2186	4293	6479	SO:0001583	missense	1800	exon4			CCAGCAGTGCAGG		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.365G>T	16.37:g.89702799G>T	ENSP00000376807:p.Ser122Ile		154	0	0		47	0.06	3	NM_001128141	1	0	0	D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	g	19.08	3.758794	0.69763	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.22134	1.97;1.97;1.97	5.41	5.41	0.78517	.	0.082756	0.85682	D	0.000000	T	0.50309	0.1608	M	0.86178	2.8	0.58432	D	0.999997	D	0.65815	0.995	D	0.66084	0.941	T	0.56780	-0.7922	10	0.87932	D	0	-9.4908	16.1523	0.81632	0.0:0.0:1.0:0.0	.	122	P16444	DPEP1_HUMAN	I	122	ENSP00000397313:S122I;ENSP00000376807:S122I;ENSP00000261615:S122I	ENSP00000261615:S122I	S	+	2	0	DPEP1	88230300	1.000000	0.71417	0.364000	0.25888	0.203000	0.24098	5.122000	0.64697	2.551000	0.86045	0.550000	0.68814	AGT			0.632	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000423058.1		NM_001128141		T	89702799	G	T	89702799	3	4	136	1	0	0	0	0	1	0	0	0	4718	1029	36	3	375	3	DPEP1	16	89702799	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	18131478	89702799	651954	56	10060											
ZNF286A	57335	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	15611559	15611559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccccaaaagcagctattCaggtgagccagatagatggg	13	6	12	10	0	1	3	1	1	0	2	1	3	1	3	3	2	4	2	3	2	4	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr17:15611559C>T	ENST00000464847.2	+	4	885	c.332C>T	c.(331-333)tCa>tTa	p.S111L	ZNF286A_ENST00000583566.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000395894.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000421016.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000472486.1_Missense_Mutation_p.S101L|ZNF286A_ENST00000585194.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000395893.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000580259.1_3'UTR|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000413242.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000593105.1_Missense_Mutation_p.S101L			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	111	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AGCAGCTATTCAGGTGAGCCA	0.423																																					p.S111L													.	ZNF286A	58		0			c.C332T												53	54	53					17																	15611559		2203	4300	6503	SO:0001583	missense	57335	exon5			GCTATTCAGGTGA	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.332C>T	17.37:g.15611559C>T	ENSP00000464218:p.Ser111Leu		280	0	0		144	0.04	6	NM_020652	47	0.09	4	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	c	13.31	2.197832	0.38806	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894;ENST00000395893	T;T;T;T	0.07567	3.54;3.18;5.54;5.59	4.85	4.85	0.62838	Krueppel-associated box (1);	8.183600	0.00633	N	0.000488	T	0.09642	0.0237	N	0.19112	0.55	0.37066	D	0.898307	B	0.26635	0.155	B	0.26094	0.066	T	0.15435	-1.0437	10	0.38643	T	0.18	-0.7981	13.6645	0.62387	0.0:1.0:0.0:0.0	.	111	Q9HBT8	Z286A_HUMAN	L	111;101;111;111	ENSP00000397163:S111L;ENSP00000408168:S101L;ENSP00000379231:S111L;ENSP00000379230:S111L	ENSP00000435872:S111L	S	+	2	0	ZNF286A	15552284	0.995000	0.38212	0.997000	0.53966	0.127000	0.20565	3.845000	0.55880	2.680000	0.91292	0.563000	0.77884	TCA			0.423	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130696.4		NM_020652		T	15611559	C	T	15611559	3	4	136	1	0	0	0	0	1	0	0	0	17846	838	29	3	346	3	ZNF286A	17	15611559	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10		15611559	65583651	57	10061											
ABCA6	23460	hgsc.bcm.edu	37	chr17	67136799	67136799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaagaaaattcttgcacaGaagtgctttggtttgctgat	11	15	9	6	0	1	3	0	1	1	2	1	3	1	3	0	1	3	4	0	1	4	5			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr17:67136799G>T	ENST00000284425.2	-	2	220	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	ABCA6_ENST00000590645.1_Missense_Mutation_p.L16M	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	16					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)					TTCTTGCACAGAAGTGCTTTG	0.358																																					p.L16M													.	.			0			c.C46A												159	159	159					17																	67136799		2203	4298	6501	SO:0001583	missense	23460	exon2			TGCACAGAAGTGC	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.46C>A	17.37:g.67136799G>T	ENSP00000284425:p.Leu16Met		122	0	0		90	0.04	4	NM_080284	1	0	0	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203995	0.58234	.	.	ENSG00000154262	ENST00000284425	D	0.89875	-2.58	5.32	2.25	0.28309	.	0.000000	0.30547	N	0.009395	D	0.92208	0.7529	M	0.69823	2.125	0.28363	N	0.920375	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85668	0.1293	10	0.87932	D	0	.	7.6287	0.28226	0.2678:0.0:0.7322:0.0	.	16;16	Q8N139-3;Q8N139	.;ABCA6_HUMAN	M	16	ENSP00000284425:L16M	ENSP00000284425:L16M	L	-	1	2	ABCA6	64648394	1.000000	0.71417	0.362000	0.25862	0.979000	0.70002	0.905000	0.28504	0.329000	0.23460	0.563000	0.77884	CTG			0.358	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450463.1		NM_080284		T	67136799	G	T	67136799	3	4	136	1	0	0	0	0	1	0	0	0	36	933	33	3	4959	3	ABCA6	17	67136799	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	51525240	67136799	14058411	58	10062											
RNF213	57674	broad.mit.edu	37	chr17	78262016	78262016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcccaggaggggaccGgtccccccacctctgctggt	4	7	13	17	1	1	0	0	0	1	0	3	2	3	2	7	5	1	1	7	5	0	0	rs199976159		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr17:78262016G>A	ENST00000582970.1	+	4	807	c.664G>A	c.(664-666)Ggt>Agt	p.G222S	RNF213_ENST00000508628.2_Missense_Mutation_p.G271S|RNF213_ENST00000456466.1_Missense_Mutation_p.G222S|RNF213_ENST00000319921.4_Missense_Mutation_p.G222S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	222					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)			GGAGGGGACCGGTCCCCCCAC	0.642																																					p.G222S													.	RNF213	766		0			c.G664A							G	SER/GLY,SER/GLY	0,4406		0,0,2203	52	56	54		811,664	-1.7	0	17		54	2,8598		0,2,4298	yes	missense,missense	RNF213	NM_020914.4,NM_020954.2	56,56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	271/5257,222/1064	78262016	2,13004	2203	4300	6503	SO:0001583	missense	57674	exon4			GGGACCGGTCCCC	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.664G>A	17.37:g.78262016G>A	ENSP00000464087:p.Gly222Ser		141	0	0		74	0.04	3	NM_001256071	6	0	0	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943961	0.18281	0.0	2.33E-4	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.39997	1.05;1.05	4.33	-1.66	0.08265	.	2.970470	0.01513	N	0.018036	T	0.29028	0.0721	L	0.43152	1.355	0.09310	N	1	P	0.34743	0.466	B	0.28784	0.094	T	0.16188	-1.0411	10	0.05721	T	0.95	-5.5574	8.1379	0.31064	0.5104:0.0:0.4896:0.0	.	222	Q9HCF4-2	.	S	222;271;222;222	ENSP00000392123:G222S;ENSP00000324392:G222S	ENSP00000324392:G222S	G	+	1	0	RNF213	75876611	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.032000	0.13732	-0.356000	0.08187	-1.075000	0.02238	GGT			0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000443298.1		NM_020914		A	78262016	G	A	78262016	3	1	136	1	0	0	0	0	1	0	0	0	13500	1116	39	1	825	1	RNF213	17	78262016	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	11125217	78262016	2933194	59	10063											
C19orf35	374872	mdanderson.org	37	chr19	2275721	2275721	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcccatcgaggactcGgtggcctcggccaggtattc	5	8	14	14	3	0	0	0	0	0	0	4	2	0	1	4	6	0	1	4	6	1	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr19:2275721G>T	ENST00000342063.3	-	4	1473	c.1380C>A	c.(1378-1380)acC>acA	p.T460T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	460										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)		TCGAGGACTCGGTGGCCTCGG	0.711																																					p.T460T													.	.			0			c.C1380A												12	12	12					19																	2275721		2184	4257	6441	SO:0001819	synonymous_variant	374872	exon4			GGACTCGGTGGCC	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.1380C>A	19.37:g.2275721G>T			71	0	0		27	0.11	3	NM_198532	0		0		Silent	SNP	ENST00000342063.3	37	CCDS12087.1																																																																																					0.711	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442080.1		NM_198532		T	2275721	G	T	2275721	2	4	136	1	0	0	0	0	0	0	0	1	1922	1103	39	1		1	C19orf35	19	2275721	Silent	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		2275721	56853262	60	10064											
DUS3L	56931	mdanderson.org	37	chr19	5786832	5786832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggctagcttggtgtagcGctgctcccgagagcggccgt	4	9	16	12	5	0	1	0	0	0	1	2	2	1	1	2	3	4	5	2	3	2	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr19:5786832G>T	ENST00000309061.7	-	9	1510	c.1414C>A	c.(1414-1416)Cgc>Agc	p.R472S	DUS3L_ENST00000320699.8_Missense_Mutation_p.R230S|DUS3L_ENST00000590681.1_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	472							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTGGTGTAGCGCTGCTCCCGA	0.662																																					p.R472S													.	.			0			c.C1414A												28	33	31					19																	5786832		2197	4294	6491	SO:0001583	missense	56931	exon9			TGTAGCGCTGCTC		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1414C>A	19.37:g.5786832G>T	ENSP00000311977:p.Arg472Ser		88	0	0		51	0.06	3	NM_020175	49	0	0	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209737	0.95069	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.23348	1.91;1.91	5.01	5.01	0.66863	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	H	0.94886	3.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75016	-0.3466	10	0.87932	D	0	-22.5678	15.8427	0.78861	0.0:0.0:1.0:0.0	.	230;472	Q96G46-3;Q96G46	.;DUS3L_HUMAN	S	472;230	ENSP00000311977:R472S;ENSP00000315558:R230S	ENSP00000311977:R472S	R	-	1	0	DUS3L	5737832	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.314000	0.51943	2.324000	0.78689	0.549000	0.68633	CGC			0.662	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451870.2		NM_020175		T	5786832	G	T	5786832	3	4	136	1	0	0	0	0	1	0	0	0	4812	1087	38	1	558	1	DUS3L	19	5786832	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	3511111	5786832	53342151	61	10065											
KEAP1	9817	mdanderson.org	37	chr19	10597469	10597469	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaacactccacactgtcCaggaacgtgtgaccatcata	12	9	7	13	2	1	1	1	1	0	0	4	2	3	2	3	1	2	1	3	1	3	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr19:10597469C>A	ENST00000171111.5	-	6	2281	c.1734G>T	c.(1732-1734)ctG>ctT	p.L578L	KEAP1_ENST00000393623.2_Silent_p.L578L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	578					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)	CCACACTGTCCAGGAACGTGT	0.582																																					p.L578L													.	.			0			c.G1734T												96	83	87					19																	10597469		2203	4300	6503	SO:0001819	synonymous_variant	9817	exon6			ACTGTCCAGGAAC	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.1734G>T	19.37:g.10597469C>A			118	0	0		52	0.06	3	NM_012289	229	0	0	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	CCDS12239.1																																																																																					0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452000.1		NM_012289		A	10597469	C	A	10597469	2	1	136	1	0	0	0	0	0	0	0	1	8156	581	21	3		3	KEAP1	19	10597469	Silent	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	4810637	10597469	48531514	62	10066											
ZNF682	91120	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	20117945	20117946	+	Frame_Shift_Del	DEL	CT	CT	-																															atttctttttgatccttacaCtcacccacattttccccatc																										TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	CT	CT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr19:20117945_20117946delCT	ENST00000397165.2	-	4	525_526	c.365_366delAG	c.(364-366)gagfs	p.E122fs	ZNF682_ENST00000595736.1_Frame_Shift_Del_p.E46fs|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000597972.1_Frame_Shift_Del_p.E128fs|ZNF682_ENST00000358523.5_Frame_Shift_Del_p.E90fs|ZNF682_ENST00000397162.1_Frame_Shift_Del_p.E90fs|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	122					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)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GATCCTTACACTCACCCACATT	0.351																																					p.122_123del													.	ZNF682	51		0			c.366_367del																																									SO:0001589	frameshift_variant	91120	exon4			CTTACACTCACCC	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"Zinc fingers, C2H2-type", "-"	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.365_366delAG	19.37:g.20117945_20117946delCT	ENSP00000380351:p.Glu122fs		134	0	0		110	0.46	51	NM_033196	11	0	0	B3KU64|E9PFJ5|Q96JV9	Frame_Shift_Del	DEL	ENST00000397165.2	37	CCDS42533.1																																																																																					0.351	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462888.1		NM_033196		-	20117946	CT	-	20117945	7	5	136	1	0	1	0	1	0	0	0	0	18112	564	20	0	1134	0	ZNF682	19	20117945	Frame_Shift_Del	DEL	CT	TCGA-YU-A94D-01A-11D-A435-10	9520476	20117945	39011038	63	10067											
SFRS16	11129	bcgsc.ca	37	chr19	45559754	45559754	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctacattgatgagttgtaCggaggcctccagagacccag	11	9	11	10	1	1	3	0	2	1	1	2	5	2	4	3	2	2	2	3	2	2	4			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr19:45559754C>T	ENST00000221455.3	+	6	524	c.426C>T	c.(424-426)taC>taT	p.Y142Y	CLASRP_ENST00000544944.2_Silent_p.Y142Y|CLASRP_ENST00000391953.4_Silent_p.Y80Y	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	142					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ATGAGTTGTACGGAGGCCTCC	0.582																																					p.Y142Y													.	CLASRP	44		0			c.C426T												110	98	102					19																	45559754		2203	4300	6503	SO:0001819	synonymous_variant	11129	exon6			GTTGTACGGAGGC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.426C>T	19.37:g.45559754C>T			112	0	0		45	0.09	4	NM_007056	112	0	0	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Silent	SNP	ENST00000221455.3	37	CCDS12652.2																																																																																					0.582	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316749.1		NM_007056		T	45559754	C	T	45559754	2	4	136	1	0	0	0	0	0	0	0	1	14195	547	19	1		1	SFRS16	19	45559754	Silent	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	25441809	45559754	13569229	64	10068											
FAM83C	128876	mdanderson.org	37	chr20	33875775	33875775	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgcaaagccaggtgaaGctgggggcagagggacaggg	10	4	20	7	0	0	2	0	1	0	1	0	3	0	3	1	6	3	4	1	6	2	0			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr20:33875775G>T	ENST00000374408.3	-	4	903	c.807C>A	c.(805-807)agC>agA	p.S269R	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	269										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCAGGTGAAGCTGGGGGCAG	0.637																																					p.S269R													.	.			0			c.C807A												11	12	12					20																	33875775		2145	4235	6380	SO:0001630	splice_region_variant	128876	exon4			GGTGAAGCTGGGG	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.807-1C>A	20.37:g.33875775G>T			83	0.0120481928	1		33	0.09	3	NM_178468	0		0	Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088852	0.55968	.	.	ENSG00000125998	ENST00000374408	T	0.15017	2.46	4.13	3.1	0.35709	.	0.293866	0.36101	N	0.002784	T	0.27419	0.0673	L	0.46819	1.47	0.45318	D	0.998315	D	0.89917	1.0	D	0.85130	0.997	T	0.02546	-1.1143	10	0.59425	D	0.04	.	4.127	0.10131	0.1251:0.0:0.6421:0.2328	.	269	Q9BQN1	FA83C_HUMAN	R	269	ENSP00000363529:S269R	ENSP00000363529:S269R	S	-	3	2	FAM83C	33339189	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.875000	0.39578	2.287000	0.76781	0.561000	0.74099	AGC			0.637	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078854.3			Missense_Mutation	T	33875775	G	T	33875775	5	4	136	1	0	0	0	0	0	0	1	0	5648	985	34	2	1440	2	FAM83C	20	33875775	Splice_Site	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		33875775	29149745	65	10069											
SLC32A1	140679	broad.mit.edu	37	chr20	37357187	37357187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtcttcttcgacgtcGccatcttcgtcatcggcggc	6	11	9	15	6	4	0	1	0	3	0	8	1	4	0	2	2	0	0	2	2	1	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr20:37357187G>A	ENST00000217420.1	+	2	1746	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	495					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.A495T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCGACGTCGCCATCTTCGT	0.647																																					p.A495T													SLC32A1,NS,carcinoma,0,3	SLC32A1	81	3	1	Substitution - Missense(1)	lung(1)	c.G1483A												24	23	23					20																	37357187		2202	4300	6502	SO:0001583	missense	140679	exon2			GACGTCGCCATCT	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1483G>A	20.37:g.37357187G>A	ENSP00000217420:p.Ala495Thr		161	0	0		100	0.04	4	NM_080552	0		0	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626666	0.28978	.	.	ENSG00000101438	ENST00000217420	T	0.02197	4.4	4.95	4.95	0.65309	.	0.112837	0.64402	D	0.000012	T	0.03220	0.0094	L	0.48642	1.525	0.58432	D	0.999996	P	0.35107	0.484	B	0.37601	0.254	T	0.57728	-0.7761	10	0.29301	T	0.29	-18.9514	11.1747	0.48593	0.0:0.0:0.8161:0.1839	.	495	Q9H598	VIAAT_HUMAN	T	495	ENSP00000217420:A495T	ENSP00000217420:A495T	A	+	1	0	SLC32A1	36790601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.508000	0.53378	2.455000	0.83008	0.655000	0.94253	GCC			0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079206.1		NM_080552		A	37357187	G	A	37357187	3	1	136	1	0	0	0	0	1	0	0	0	14588	1087	38	1	1489	1	SLC32A1	20	37357187	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	3481412	37357187	25668333	66	10070											
COL6A1	1291	mdanderson.org	37	chr21	47417374	47417374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctaaaggctaccgaggcGatgagggtcccccagggtcc	9	5	14	13	2	0	1	0	1	0	0	2	4	2	1	5	4	1	1	5	4	3	2	rs372619016		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr21:47417374G>T	ENST00000361866.3	+	21	1552	c.1438G>T	c.(1438-1440)Gat>Tat	p.D480Y		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	480	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CTACCGAGGCGATGAGGGTCC	0.662																																					p.D480Y													.	.			0			c.G1438T												65	57	60					21																	47417374		2203	4300	6503	SO:0001583	missense	1291	exon21			CGAGGCGATGAGG	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1438G>T	21.37:g.47417374G>T	ENSP00000355180:p.Asp480Tyr		77	0	0		45	0.07	3	NM_001848	425	0	0	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490428	0.26686	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.94330	-3.4	3.44	3.44	0.39384	.	0.367213	0.24370	N	0.039117	D	0.93973	0.8070	L	0.35854	1.095	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.93887	0.7176	10	0.62326	D	0.03	-22.2243	12.0709	0.53616	0.0:0.0:1.0:0.0	.	480	P12109	CO6A1_HUMAN	Y	480	ENSP00000355180:D480Y	ENSP00000355180:D480Y	D	+	1	0	COL6A1	46241802	0.996000	0.38824	0.633000	0.29310	0.409000	0.31022	3.629000	0.54266	1.950000	0.56595	0.297000	0.19635	GAT			0.662	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206877.1		NM_001848		T	47417374	G	T	47417374	3	4	136	1	0	0	0	0	1	0	0	0	3701	1058	37	1	1520	1	COL6A1	21	47417374	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10		47417374	712521	67	10071											
BID	637	mdanderson.org	37	chr22	18220954	18220954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtctctagggtaggcctgCagcagctgctccagggcagt	7	9	14	11	0	1	0	0	0	1	0	3	0	2	0	2	3	4	6	2	3	2	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr22:18220954C>T	ENST00000399774.3	-	5	574	c.405G>A	c.(403-405)ctG>ctA	p.L135L	BID_ENST00000473439.1_5'UTR|BID_ENST00000399767.1_Silent_p.L39L|BID_ENST00000317361.7_Silent_p.L181L|BID_ENST00000399765.1_Silent_p.L39L|BID_ENST00000342111.5_3'UTR|BID_ENST00000551952.1_Silent_p.L135L	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	135					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GGTAGGCCTGCAGCAGCTGCT	0.592																																					p.L181L													.	.			0			c.G543A												69	63	65					22																	18220954		2203	4300	6503	SO:0001819	synonymous_variant	637	exon5			GGCCTGCAGCAGC	AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"Endogenous ligands"	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.405G>A	22.37:g.18220954C>T			63	0	0		35	0.09	3	NM_197966	118	0	0	Q549M7|Q71T04|Q7Z4M9|Q8IY86	Silent	SNP	ENST00000399774.3	37	CCDS13748.1																																																																																					0.592	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316178.1		NM_197966		T	18220954	C	T	18220954	2	4	136	1	0	0	0	0	0	0	0	1	1430	697	25	2		2	BID	22	18220954	Silent	SNP	C	TCGA-YU-A94D-01A-11D-A435-10		18220954	33083612	68	10072											
TXNRD2	10587	mdanderson.org	37	chr22	19882962	19882962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggtgtcaaaggtgcccGtgtcctccttgccggtggtg	4	10	16	11	3	1	0	1	0	0	0	3	1	3	1	4	5	2	0	4	5	1	1	rs371153395		TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chr22:19882962G>T	ENST00000400521.1	-	11	923	c.917C>A	c.(916-918)aCg>aAg	p.T306K	TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Missense_Mutation_p.T305K|TXNRD2_ENST00000334363.9_Missense_Mutation_p.T306K|TXNRD2_ENST00000535882.1_Missense_Mutation_p.T305K|TXNRD2_ENST00000400518.1_Missense_Mutation_p.T276K|TXNRD2_ENST00000542719.1_Missense_Mutation_p.T276K	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	306					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AAAGGTGCCCGTGTCCTCCTT	0.652																																					.													.	.			0			.												149	174	165					22																	19882962		2170	4261	6431	SO:0001583	missense	10587	.			GTGCCCGTGTCCT	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.917C>A	22.37:g.19882962G>T	ENSP00000383365:p.Thr306Lys		105	0	0		45	0.07	3	.	66	0	0	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.404859	0.01155	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;1.18	4.26	-6.96	0.01622	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	1.917680	0.02216	N	0.063591	T	0.47691	0.1459	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.16802	0.006;0.019;0.006;0.004	B;B;B;B	0.10450	0.003;0.005;0.003;0.003	T	0.24835	-1.0149	10	0.22109	T	0.4	-14.3674	9.9438	0.41596	0.49:0.0:0.51:0.0	.	306;306;274;305	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	K	276;306;306;283;210;305;305;276;306	ENSP00000383362:T276K;ENSP00000383365:T306K;ENSP00000383369:T283K;ENSP00000383363:T305K;ENSP00000439314:T305K;ENSP00000439570:T276K;ENSP00000334451:T306K	ENSP00000334451:T306K	T	-	2	0	TXNRD2	18262962	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.107000	0.03316	-1.327000	0.02264	-1.244000	0.01528	ACG			0.652	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding		OTTHUMT00000314903.3		NM_006440		T	19882962	G	T	19882962	3	4	136	1	0	0	0	0	1	0	0	0	16832	1145	40	1	685	1	TXNRD2	22	19882962	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	1662008	19882962	31421604	69	10073											
P2RY8	286530	mdanderson.org	37	chrX	1584418	1584418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcctggtggctcccTccatcccttcagggtgcgca	3	8	14	16	2	1	0	1	0	0	0	4	0	4	0	5	5	1	2	5	5	0	1			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:1584418T>C	ENST00000381297.4	-	2	1244	c.1034A>G	c.(1033-1035)gAg>gGg	p.E345G	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	345						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(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)				GGTGGCTCCCTCCATCCCTTC	0.716			T	CRLF2	"B-ALL, Downs associated ALL"																																p.E345G				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	.	.			0			c.A1034G												39	46	44					X																	1584418		2203	4293	6496	SO:0001583	missense	286530	exon2			GCTCCCTCCATCC	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.1034A>G	X.37:g.1584418T>C	ENSP00000370697:p.Glu345Gly		87	0.0114942529	1		55	0.05	3	NM_178129	1	0	0		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	t	10.06	1.245923	0.22796	.	.	ENSG00000182162	ENST00000381297	T	0.62105	0.05	2.73	1.32	0.21799	.	1.084420	0.07494	U	0.906101	T	0.39145	0.1067	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27400	-1.0075	10	0.44086	T	0.13	.	5.3962	0.16271	0.1556:0.0:0.1849:0.6595	.	345	Q86VZ1	P2RY8_HUMAN	G	345	ENSP00000370697:E345G	ENSP00000370697:E345G	E	-	2	0	P2RY8	1544418	0.001000	0.12720	0.024000	0.17045	0.064000	0.16182	0.761000	0.26489	0.823000	0.34589	0.230000	0.17803	GAG			0.716	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055602.1		NM_178129		C	1584418	T	C	1584418	3	2	136	1	0	0	0	0	1	0	0	0	11372	1551	54	4	49	4	P2RY8	23	1584418	Missense_Mutation	SNP	T	TCGA-YU-A94D-01A-11D-A435-10		1584418	153686142	70	10074											
PPEF1	5475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	18845518	18845518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttgaacaaagatggaagCattgactttaatgagttttt	14	14	9	4	0	0	4	0	3	0	1	0	6	0	5	0	1	2	2	0	1	4	6			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:18845518C>A	ENST00000361511.4	+	19	2369	c.1875C>A	c.(1873-1875)agC>agA	p.S625R	PPEF1_ENST00000544635.1_Missense_Mutation_p.S560R|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.S572R|PPEF1_ENST00000349874.5_Missense_Mutation_p.S563R	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	625	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)					AAGATGGAAGCATTGACTTTA	0.368																																					p.S625R													.	.			0			c.C1875A												160	142	148					X																	18845518		2203	4300	6503	SO:0001583	missense	5475	exon19			TGGAAGCATTGAC	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.1875C>A	X.37:g.18845518C>A	ENSP00000354871:p.Ser625Arg		209	0	0		213	0.31	66	NM_006240	3	0	0	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886524	0.17540	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.2	4.14	0.48551	EF-hand-like domain (1);	0.188712	0.37053	N	0.002266	T	0.71762	0.3378	L	0.60455	1.87	0.38694	D	0.952826	D;D;D	0.56746	0.977;0.975;0.977	P;P;P	0.58873	0.847;0.718;0.73	T	0.69343	-0.5170	10	0.15499	T	0.54	-8.4485	12.5404	0.56167	0.0:0.8968:0.0:0.1032	.	563;625;597	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	R	625;572;563;560;87	ENSP00000354871:S625R;ENSP00000352806:S572R;ENSP00000341892:S563R;ENSP00000441289:S560R;ENSP00000419273:S87R	ENSP00000341892:S563R	S	+	3	2	PPEF1	18755439	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	2.615000	0.46368	2.164000	0.68074	0.594000	0.82650	AGC			0.368	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055953.3		NM_006240		A	18845518	C	A	18845518	3	1	136	1	0	0	0	0	1	0	0	0	12324	709	25	2	1937	2	PPEF1	23	18845518	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	17261100	18845518	136425042	71	10075											
SMS	6611	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	21995231	21995231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acagatactggcccaccgccGacgggcgcctggttgaatat	9	7	12	13	4	0	2	0	1	0	1	0	3	0	2	4	3	1	1	4	3	3	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:21995231G>C	ENST00000404933.2	+	5	634	c.382G>C	c.(382-384)Gac>Cac	p.D128H	SMS_ENST00000415881.2_Missense_Mutation_p.D32H|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000379404.1_Missense_Mutation_p.D75H	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	128	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GCCCACCGCCGACGGGCGCCT	0.423																																					p.D128H													.	.			0			c.G382C												60	62	61					X																	21995231		2203	4300	6503	SO:0001583	missense	6611	exon5			ACCGCCGACGGGC	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"Snyder-Robinson X-linked mental retardation syndrome"	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.382G>C	X.37:g.21995231G>C	ENSP00000385746:p.Asp128His		227	0	0		232	0.05	11	NM_004595	228	0	0	A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	CCDS14203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	3.000132|3.000132	0.54147|0.54147	.|.	.|.	ENSG00000102172|ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881|ENST00000457085	T;T;T|.	0.78003|.	-1.14;-1.14;-1.14|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78175|0.78175	0.4242|0.4242	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.987|.	D;P|.	0.97110|.	1.0;0.801|.	T|T	0.78198|0.78198	-0.2297|-0.2297	10|5	0.66056|.	D|.	0.02|.	-7.3579|-7.3579	18.8727|18.8727	0.92322|0.92322	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	128;75|.	P52788;P52788-2|.	SPSY_HUMAN;.|.	H|P	128;75;32|219	ENSP00000385746:D128H;ENSP00000368714:D75H;ENSP00000388906:D32H|.	ENSP00000368714:D75H|.	D|R	+|+	1|2	0|0	SMS|SMS	21905152|21905152	1.000000|1.000000	0.71417|0.71417	0.148000|0.148000	0.22405|0.22405	0.008000|0.008000	0.06430|0.06430	9.429000|9.429000	0.97481|0.97481	2.403000|2.403000	0.81681|0.81681	0.600000|0.600000	0.82982|0.82982	GAC|CGA			0.423	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056032.1		NM_004595		C	21995231	G	C	21995231	3	2	136	1	0	0	0	0	1	0	0	0	14836	1058	37	5	400	5	SMS	23	21995231	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	3149713	21995231	133275329	72	10076											
ZNF645	158506	broad.mit.edu	37	chrX	22291678	22291678	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcacaccatggtgtcactAccgtctgtgcaacatatgct	10	10	8	13	1	2	0	1	0	1	0	2	0	2	0	2	1	5	3	2	1	3	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:22291678A>G	ENST00000323684.1	+	1	614	c.570A>G	c.(568-570)ctA>ctG	p.L190L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	190					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGTGTCACTACCGTCTGTGC	0.473																																					p.L190L													.	ZNF645	67		0			c.A570G												150	112	125					X																	22291678		2203	4300	6503	SO:0001819	synonymous_variant	158506	exon1			GTCACTACCGTCT	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.570A>G	X.37:g.22291678A>G			198	0.0050505051	1		259	0.03	7	NM_152577	0		0	A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	CCDS14205.1																																																																																					0.473	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056037.1		NM_152577		G	22291678	A	G	22291678	2	3	136	1	0	0	0	0	0	0	0	1	18084	378	14	4		4	ZNF645	23	22291678	Silent	SNP	A	TCGA-YU-A94D-01A-11D-A435-10	296447	22291678	132978882	73	10077											
MAGEB10	139422	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	27839493	27839493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcccgaggagggctggaaGatttgatagatgctctggac	10	8	16	7	1	1	3	0	1	1	2	1	7	1	6	1	5	1	2	1	5	2	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:27839493G>A	ENST00000356790.2	+	3	315	c.70G>A	c.(70-72)Gat>Aat	p.D24N		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	24										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						AGGGCTGGAAGATTTGATAGA	0.512																																					p.D24N													.	.			0			c.G70A												57	56	57					X																	27839493		2202	4300	6502	SO:0001583	missense	139422	exon3			CTGGAAGATTTGA		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.70G>A	X.37:g.27839493G>A	ENSP00000368304:p.Asp24Asn		154	0	0		159	0.31	50	NM_182506	0		0	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	G	7.575	0.667459	0.14710	.	.	ENSG00000177689	ENST00000356790	T	0.04275	3.66	2.51	-0.326	0.12698	Melanoma associated antigen, MAGE, N-terminal (1);	1.617550	0.03769	N	0.259383	T	0.05090	0.0136	L	0.35644	1.08	0.09310	N	1	B	0.22746	0.074	B	0.20184	0.028	T	0.42292	-0.9460	10	0.41790	T	0.15	.	5.0114	0.14315	0.5196:0.0:0.4804:0.0	.	24	Q96LZ2	MAGBA_HUMAN	N	24	ENSP00000368304:D24N	ENSP00000368304:D24N	D	+	1	0	MAGEB10	27749414	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.037000	0.03557	-0.231000	0.09825	0.415000	0.27848	GAT			0.512	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106216.1		NM_182506		A	27839493	G	A	27839493	3	1	136	1	0	0	0	0	1	0	0	0	9189	942	33	3	72	3	MAGEB10	23	27839493	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	5547815	27839493	127431067	74	10078											
DCAF8L1	139425	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	27998407	27998407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtccacccactgcaaattGgtaaatattggcaggattca	13	11	8	9	0	1	0	1	0	0	0	2	1	2	1	2	3	1	3	2	3	4	5			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:27998407G>T	ENST00000441525.1	-	1	1159	c.1045C>A	c.(1045-1047)Caa>Aaa	p.Q349K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	349										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						ACTGCAAATTGGTAAATATTG	0.393																																					p.Q349K													.	.			0			c.C1045A												94	81	85					X																	27998407		2202	4300	6502	SO:0001583	missense	139425	exon1			CAAATTGGTAAAT		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.1045C>A	X.37:g.27998407G>T	ENSP00000405222:p.Gln349Lys		140	0	0		157	0.06	10	NM_001017930	0		0	B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227394	0.39399	.	.	ENSG00000226372	ENST00000441525	T	0.80994	-1.44	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.129829	0.53938	D	0.000060	T	0.78685	0.4322	M	0.77820	2.39	0.36546	D	0.871566	P	0.51449	0.945	P	0.48030	0.564	T	0.76748	-0.2845	10	0.17369	T	0.5	-5.8416	7.2758	0.26283	1.0E-4:0.0:0.9999:0.0	.	349	A6NGE4	DC8L1_HUMAN	K	349	ENSP00000405222:Q349K	ENSP00000405222:Q349K	Q	-	1	0	DCAF8L1	27908328	1.000000	0.71417	0.071000	0.20095	0.040000	0.13550	5.470000	0.66756	0.691000	0.31592	0.284000	0.19432	CAA			0.393	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056150.2		XM_066690		T	27998407	G	T	27998407	3	4	136	1	0	0	0	0	1	0	0	0	4279	1357	47	3	761	3	DCAF8L1	23	27998407	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	158914	27998407	127272153	75	10079											
MED14	9282	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	40569339	40569339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattttaattgtaactttGtgaacagatgctgttccagt	11	17	7	6	0	1	2	1	1	0	1	2	2	2	2	1	0	3	3	1	0	4	6			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:40569339G>T	ENST00000324817.1	-	9	1183	c.1065C>A	c.(1063-1065)caC>caA	p.H355Q		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	355	Interaction with STAT2.				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)|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)	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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGTAACTTTGTGAACAGATG	0.338																																					p.H355Q													.	MED14	108		0			c.C1065A												43	38	40					X																	40569339		2203	4299	6502	SO:0001583	missense	9282	exon9			AACTTTGTGAACA	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1065C>A	X.37:g.40569339G>T	ENSP00000323720:p.His355Gln		345	0.0057971014	2		409	0.41	168	NM_004229	17	0	0	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028341	0.35797	.	.	ENSG00000180182	ENST00000324817	T	0.41400	1.0	5.04	4.18	0.49190	.	0.044317	0.85682	D	0.000000	T	0.30978	0.0782	L	0.47716	1.5	0.54753	D	0.999987	P	0.38335	0.627	B	0.32022	0.139	T	0.09292	-1.0681	10	0.48119	T	0.1	.	7.9779	0.30166	0.2556:0.0:0.7443:0.0	.	355	O60244	MED14_HUMAN	Q	355	ENSP00000323720:H355Q	ENSP00000323720:H355Q	H	-	3	2	MED14	40454283	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.534000	0.45676	1.028000	0.39785	-0.276000	0.10085	CAC			0.338	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060692.1		NM_004229		T	40569339	G	T	40569339	3	4	136	1	0	0	0	0	1	0	0	0	9448	1368	48	3	3391	3	MED14	23	40569339	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	12570932	40569339	114701221	76	10080											
HEPH	9843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	65479954	65479954	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgcagaatggcgagaacTaccgggcagatgtggtggat	10	9	15	7	2	1	3	0	0	1	3	1	5	1	4	1	4	3	2	1	4	3	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:65479954T>A	ENST00000343002.2	+	18	3713	c.3049T>A	c.(3049-3051)Tac>Aac	p.Y1017N	HEPH_ENST00000441993.2_Missense_Mutation_p.Y1020N|HEPH_ENST00000419594.1_Missense_Mutation_p.Y828N|HEPH_ENST00000374727.3_Missense_Mutation_p.Y1020N|HEPH_ENST00000519389.1_Missense_Mutation_p.Y1071N|HEPH_ENST00000336279.5_Missense_Mutation_p.Y750N			Q9BQS7	HEPH_HUMAN	hephaestin	1017	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGCGAGAACTACCGGGCAGA	0.493																																					p.Y1071N													.	.			0			c.T3211A												99	84	89					X																	65479954		2203	4300	6503	SO:0001583	missense	9843	exon19			GAGAACTACCGGG	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3049T>A	X.37:g.65479954T>A	ENSP00000343939:p.Tyr1017Asn		93	0	0		97	0.39	38	NM_138737	28	0	0	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	T	14.46	2.541702	0.45280	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99656	-6.31;-6.31;-6.31;-6.31;-6.31;-6.31	4.98	3.78	0.43462	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.117416	0.64402	D	0.000015	D	0.99133	0.9701	L	0.49126	1.545	0.36532	D	0.870779	D;D;D	0.63880	0.993;0.966;0.98	D;P;P	0.67103	0.949;0.908;0.876	D	0.99868	1.1092	10	0.62326	D	0.03	.	6.8495	0.24006	0.0:0.1883:0.0:0.8117	.	1071;828;1017	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	N	1071;1020;750;1020;828;1017	ENSP00000430620:Y1071N;ENSP00000363859:Y1020N;ENSP00000337418:Y750N;ENSP00000411687:Y1020N;ENSP00000413211:Y828N;ENSP00000343939:Y1017N	ENSP00000337418:Y750N	Y	+	1	0	HEPH	65396679	0.910000	0.30920	0.964000	0.40570	0.483000	0.33249	1.271000	0.33098	1.833000	0.53350	0.486000	0.48141	TAC			0.493	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000056995.1		NM_138737		A	65479954	T	A	65479954	3	1	136	1	0	0	0	0	1	0	0	0	7069	1522	53	5	3285	5	HEPH	23	65479954	Missense_Mutation	SNP	T	TCGA-YU-A94D-01A-11D-A435-10	24910615	65479954	89790606	77	10081											
COL4A5	1287	mdanderson.org	37	chrX	107683387	107683387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagtcagcctggctgccgGcttgttcttactggccctga	4	12	13	12	1	2	1	1	1	1	0	2	2	2	2	3	4	3	3	3	4	1	3			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:107683387G>T	ENST00000361603.2	+	1	276	c.32G>T	c.(31-33)gGc>gTc	p.G11V	COL4A6_ENST00000334504.7_5'Flank|COL4A6_ENST00000545689.1_5'Flank|COL4A6_ENST00000372216.4_5'Flank|COL4A5_ENST00000477429.1_3'UTR|COL4A6_ENST00000461897.1_5'Flank|COL4A6_ENST00000394872.2_5'Flank|COL4A6_ENST00000538570.1_5'Flank|COL4A5_ENST00000328300.6_Missense_Mutation_p.G11V	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	11					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						CTGGCTGCCGGCTTGTTCTTA	0.607									Alport syndrome with Diffuse Leiomyomatosis																												p.G11V													.	.			0			c.G32T												52	41	45					X																	107683387		2203	4300	6503	SO:0001583	missense	1287	exon1	Familial Cancer Database		CTGCCGGCTTGTT	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.32G>T	X.37:g.107683387G>T	ENSP00000354505:p.Gly11Val		49	0	0		43	0.07	3	NM_000495	47	0	0	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874915	0.51695	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.90788	-2.73;-2.55	4.68	4.68	0.58851	.	0.335775	0.25765	N	0.028447	T	0.76730	0.4028	N	0.08118	0	0.49213	D	0.99976	P;P	0.43287	0.802;0.802	B;B	0.35278	0.199;0.199	T	0.77169	-0.2686	10	0.13108	T	0.6	.	12.5058	0.55979	0.0:0.0:1.0:0.0	.	11;11	E7EVY4;P29400	.;CO4A5_HUMAN	V	11	ENSP00000331902:G11V;ENSP00000354505:G11V	ENSP00000331902:G11V	G	+	2	0	COL4A5	107570043	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.651000	0.46674	2.246000	0.74042	0.600000	0.82982	GGC			0.607	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057880.2				T	107683387	G	T	107683387	3	4	136	1	0	0	0	0	1	0	0	0	3696	1203	42	2	34	2	COL4A5	23	107683387	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	42203433	107683387	47587173	78	10082											
COL4A5	1287	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	107929306	107929306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggacgcaatggactccctgGctttgatggtgcaggagggc	7	9	16	9	1	0	1	0	1	0	0	1	4	1	4	1	6	1	3	1	6	1	1			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:107929306G>A	ENST00000361603.2	+	46	4488	c.4244G>A	c.(4243-4245)gGc>gAc	p.G1415D	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1421D	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1415	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						GGACTCCCTGGCTTTGATGGT	0.502									Alport syndrome with Diffuse Leiomyomatosis																												p.G1415D													.	.			0			c.G4244A												72	58	63					X																	107929306		2203	4300	6503	SO:0001583	missense	1287	exon46	Familial Cancer Database		TCCCTGGCTTTGA	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.4244G>A	X.37:g.107929306G>A	ENSP00000354505:p.Gly1415Asp		205	0	0		246	0.06	14	NM_000495	186	0.07	13	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.070620|5.070620	0.93950|0.93950	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000515658|ENST00000328300;ENST00000361603;ENST00000508186	.|D;D	.|0.99353	.|-5.77;-5.77	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99600|0.99600	0.9855|0.9855	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.97812|0.97812	1.0251|1.0251	5|10	.|0.87932	.|D	.|0	.|.	18.0047|18.0047	0.89207|0.89207	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1418;1415	.|E7EVY4;P29400	.|.;CO4A5_HUMAN	T|D	20|1421;1415;1421	.|ENSP00000331902:G1421D;ENSP00000354505:G1415D	.|ENSP00000331902:G1421D	A|G	+|+	1|2	0|0	COL4A5|COL4A5	107815962|107815962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.507000|9.507000	0.97996|0.97996	2.273000|2.273000	0.75805|0.75805	0.600000|0.600000	0.82982|0.82982	GCT|GGC			0.502	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000057880.2				A	107929306	G	A	107929306	3	1	136	1	0	0	0	0	1	0	0	0	3696	1203	42	2	4437	2	COL4A5	23	107929306	Missense_Mutation	SNP	G	TCGA-YU-A94D-01A-11D-A435-10	245919	107929306	47341254	79	10083											
CHRDL1	91851	mdanderson.org	37	chrX	109963072	109963072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacacacctacctctgcataCccggcagcaggaatctggaa	13	6	8	14	1	2	0	0	0	2	0	2	2	2	2	3	3	5	3	3	3	5	2			TCGA-YU-A94D-01A-11D-A435-10	TCGA-YU-A94D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cdf8e7a-91c2-467f-a970-16d9a85624d8	9c956f87-fd2f-4e2b-ab4e-777d60094e09	g.chrX:109963072C>T	ENST00000372045.1	-	6	642	c.511G>A	c.(511-513)Gta>Ata	p.V171I	CHRDL1_ENST00000218054.4_Missense_Mutation_p.V177I|CHRDL1_ENST00000372042.1_Missense_Mutation_p.V178I|CHRDL1_ENST00000394797.4_Missense_Mutation_p.V177I|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V177I			Q9BU40	CRDL1_HUMAN	chordin-like 1	171	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CCTCTGCATACCCGGCAGCAG	0.488																																					p.V178I													.	.			0			c.G532A												108	95	99					X																	109963072		2203	4300	6503	SO:0001583	missense	91851	exon6			TGCATACCCGGCA	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.511G>A	X.37:g.109963072C>T	ENSP00000361115:p.Val171Ile		58	0	0		52	0.06	3	NM_001143981	14	0	0	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37		.	.	.	.	.	.	.	.	.	.	C	11.74	1.729331	0.30684	.	.	ENSG00000101938	ENST00000372045;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000444321	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.92	3.16	0.36331	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	L	0.48986	1.54	0.36186	D	0.849786	B;B;B;B;B	0.28291	0.009;0.206;0.009;0.009;0.009	B;B;B;B;B	0.28139	0.013;0.086;0.013;0.013;0.013	T	0.58962	-0.7543	9	.	.	.	-5.1906	8.865	0.35280	0.0:0.8104:0.0:0.1896	.	177;172;157;171;178	E9PGS5;Q9BU40-2;Q59FB2;Q9BU40;D3DUY6	.;.;.;CRDL1_HUMAN;.	I	171;177;177;178;177	ENSP00000361115:V171I;ENSP00000218054:V177I;ENSP00000378276:V177I;ENSP00000361112:V178I;ENSP00000399739:V177I	.	V	-	1	0	CHRDL1	109849728	0.996000	0.38824	0.994000	0.49952	0.833000	0.47200	1.807000	0.38902	0.571000	0.29365	-0.465000	0.05216	GTA			0.488	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000057912.1		NM_145234		T	109963072	C	T	109963072	3	4	136	1	0	0	0	0	1	0	0	0	3375	507	18	3	872	3	CHRDL1	23	109963072	Missense_Mutation	SNP	C	TCGA-YU-A94D-01A-11D-A435-10	2033766	109963072	45307488	80	10084											
TP73	7161	mdanderson.org	37	chr1	3607508	3607508	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcacggcacctcgccacGgtaggtgtgacgcgccattc	6	6	12	17	6	0	1	0	1	0	0	2	1	0	1	4	3	0	3	4	3	1	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr1:3607508G>T	ENST00000378295.4	+	3	341				TP73_ENST00000354437.4_Intron|TP73_ENST00000604479.1_Intron|TP73_ENST00000346387.4_Intron|TP73_ENST00000378285.1_Splice_Site_p.T13T|TP73_ENST00000378288.4_Splice_Site_p.T13T|TP73_ENST00000604074.1_Intron|TP73_ENST00000357733.3_Intron|TP73_ENST00000603362.1_Intron|TP73_ENST00000378280.1_Splice_Site_p.T13T	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73						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)		ACCTCGCCACGGTAGGTGTGA	0.632																																					p.T13T													TP73_ENST00000378288,NS,carcinoma,0,1	TP73_ENST00000378288	0	1	0			c.G39T												23	22	22					1																	3607508		1555	3566	5121	SO:0001627	intron_variant	7161	exon1			CGCCACGGTAGGT	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.186+7764G>T	1.37:g.3607508G>T			105	0	0		59	0.05	3	NM_001204190	0		0	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	ENST00000378295.4	37	CCDS49.1																																																																																					0.632	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001468.4		NM_005427		T	3607508	G	T	3607508	1	4	137	0	1	0	0	0	0	0	0	0	16417	1130	39	1		1	TP73	1	3607508	Intron	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		3607508	245643113	1	10085											
HSPG2	3339	mdanderson.org	37	chr1	22200901	22200901	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagggactggacgcactgGccggcagcagggtctccgta	7	5	17	12	3	1	0	0	0	1	0	2	2	1	2	2	6	1	5	2	6	1	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr1:22200901G>T	ENST00000374695.3	-	28	3733	c.3654C>A	c.(3652-3654)ggC>ggA	p.G1218G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1218	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGACGCACTGGCCGGCAGCAG	0.657																																					p.G1218G													.	.			0			c.C3654A												24	26	25					1																	22200901		2203	4298	6501	SO:0001819	synonymous_variant	3339	exon28			GCACTGGCCGGCA	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3654C>A	1.37:g.22200901G>T			79	0	0		44	0.07	3	NM_005529	74	0	0	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355886	0.24598	.	.	ENSG00000142798	ENST00000427897	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	T	0.70360	0.3215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69355	-0.5167	4	.	.	.	.	14.1574	0.65426	0.0:0.0:1.0:0.0	.	.	.	.	T	73	.	.	P	-	1	0	HSPG2	22073488	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.239000	0.65371	2.394000	0.81467	0.407000	0.27541	CCA			0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007598.1		NM_005529		T	22200901	G	T	22200901	2	4	137	1	0	0	0	0	0	0	0	1	7445	1190	42	2		2	HSPG2	1	22200901	Silent	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	18593393	22200901	227049720	2	10086											
HTR1D	3352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	23520342	23520342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacagagatgcaggatggagGctgtgcagcacgtgatgtca	11	7	15	8	1	1	2	1	1	0	1	1	5	1	4	0	3	3	4	0	3	0	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr1:23520342G>A	ENST00000374619.1	-	1	880	c.371C>T	c.(370-372)gCc>gTc	p.A124V	HTR1D_ENST00000314113.3_Missense_Mutation_p.A124V	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	124					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGGATGGAGGCTGTGCAGCA	0.552																																					p.A124V													.	.			0			c.C371T												149	124	132					1																	23520342		2203	4300	6503	SO:0001583	missense	3352	exon1			ATGGAGGCTGTGC	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.371C>T	1.37:g.23520342G>A	ENSP00000363748:p.Ala124Val		117	0	0		84	0.45	38	NM_000864	42	0.45	19		Missense_Mutation	SNP	ENST00000374619.1	37	CCDS231.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947363	0.92593	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.75704	-0.96;-0.96	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89185	0.6643	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90801	0.4694	10	0.72032	D	0.01	.	18.5989	0.91240	0.0:0.0:1.0:0.0	.	124	P28221	5HT1D_HUMAN	V	124	ENSP00000313661:A124V;ENSP00000363748:A124V	ENSP00000313661:A124V	A	-	2	0	HTR1D	23392929	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	9.869000	0.99810	2.648000	0.89879	0.655000	0.94253	GCC			0.552	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008924.1		NM_000864		A	23520342	G	A	23520342	3	1	137	1	0	0	0	0	1	0	0	0	7453	1203	42	2	766	2	HTR1D	1	23520342	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	1319441	23520342	225730279	3	10087											
ARID1A	8289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	27057901	27057901	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggctccatacccctccCagcagtcgacgacacagcag	9	4	8	20	3	0	0	0	0	0	0	3	2	2	0	6	1	3	3	6	1	1	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr1:27057901C>T	ENST00000324856.7	+	3	1980	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q537*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q154*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	537					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATACCCCTCCCAGCAGTCGAC	0.637			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																p.Q537X				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.			0			c.C1609T												234	232	233					1																	27057901		2203	4300	6503	SO:0001587	stop_gained	8289	exon3			CCCTCCCAGCAGT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1609C>T	1.37:g.27057901C>T	ENSP00000320485:p.Gln537*		133	0	0		106	0.52	55	NM_006015	156	0.28	44	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	34	5.377963	0.95945	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	5.44	0.79542	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.4954	17.6161	0.88068	0.0:1.0:0.0:0.0	.	.	.	.	X	537;537;154	.	ENSP00000320485:Q537X	Q	+	1	0	ARID1A	26930488	0.996000	0.38824	1.000000	0.80357	0.940000	0.58332	3.543000	0.53633	2.824000	0.97209	0.655000	0.94253	CAG			0.637	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000011437.2		NM_139135		T	27057901	C	T	27057901	4	4	137	1	0	0	0	0	0	1	0	0	913	595	21	3	1619	3	ARID1A	1	27057901	Nonsense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	3537559	27057901	222192720	4	10088											
EPHA10	284656	mdanderson.org	37	chr1	38227303	38227303	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtggcgcggcactgcttGtagtagacgcgcaccgagac	8	6	15	12	6	0	2	0	0	0	2	0	3	0	2	1	3	1	5	1	3	2	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr1:38227303G>T	ENST00000373048.4	-	3	623	c.624C>A	c.(622-624)taC>taA	p.Y208*	EPHA10_ENST00000427468.2_Nonsense_Mutation_p.Y208*|EPHA10_ENST00000319637.6_Nonsense_Mutation_p.Y208*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	208	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCACTGCTTGTAGTAGACGC	0.692																																					p.Y208X													.	.			0			c.C624A												22	26	25					1																	38227303		2200	4296	6496	SO:0001587	stop_gained	284656	exon3			CTGCTTGTAGTAG	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.624C>A	1.37:g.38227303G>T	ENSP00000362139:p.Tyr208*		26	0	0		15	0.13	2	NM_173641	0		0	A4FU89|J3KPB5|Q6NW42	Nonsense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855803	0.91355	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	.	.	.	4.52	2.53	0.30540	.	0.000000	0.37761	N	0.001958	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5512	0.33453	0.2047:0.0:0.7953:0.0	.	.	.	.	X	208	.	ENSP00000316395:Y208X	Y	-	3	2	EPHA10	37999890	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.396000	0.66297	0.533000	0.28675	0.637000	0.83480	TAC			0.692	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000012497.2		NM_173641		T	38227303	G	T	38227303	4	4	137	1	0	0	0	0	0	1	0	0	5173	1372	48	3	2500	3	EPHA10	1	38227303	Nonsense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	11169402	38227303	211023318	5	10089											
FAM40A	85369	hgsc.bcm.edu	37	chr1	110584439	110584439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtggtcacgcccctcacTttcccatgaagaaagttctc	9	10	8	14	1	3	2	2	1	1	1	5	2	4	2	3	1	0	2	3	1	2	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr1:110584439T>C	ENST00000369795.3	+	8	863	c.841T>C	c.(841-843)Ttt>Ctt	p.F281L	STRIP1_ENST00000369796.1_Missense_Mutation_p.F186L	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	281					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CGCCCCTCACTTTCCCATGAA	0.522																																					p.F281L													.	.			0			c.T841C												209	193	198					1																	110584439		2203	4300	6503	SO:0001583	missense	85369	exon8			CCTCACTTTCCCA	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.841T>C	1.37:g.110584439T>C	ENSP00000358810:p.Phe281Leu		156	0	0		96	0.04	4	NM_033088	69	0	0	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	T	31	5.058831	0.93846	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.52295	0.67;0.74	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	M	0.81802	2.56	0.80722	D	1	B;P	0.35481	0.163;0.504	B;B	0.40782	0.137;0.34	T	0.50550	-0.8815	10	0.40728	T	0.16	-22.5007	16.158	0.81680	0.0:0.0:0.0:1.0	.	186;281	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	L	186;281	ENSP00000358811:F186L;ENSP00000358810:F281L	ENSP00000358810:F281L	F	+	1	0	FAM40A	110385962	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.643000	0.83403	2.206000	0.71126	0.533000	0.62120	TTT			0.522	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032213.1		NM_033088		C	110584439	T	C	110584439	3	2	137	1	0	0	0	0	1	0	0	0	5573	1609	56	4	871	4	FAM40A	1	110584439	Missense_Mutation	SNP	T	TCGA-YU-A94I-01A-11D-A435-10	72357136	110584439	138666182	6	10090											
GATAD2B	57459	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	153784507	153784507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttccttacctgccgaagCgtatgatgtctcatgatggt	9	13	10	9	2	1	2	1	2	1	0	3	3	2	2	3	1	3	2	3	1	4	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr1:153784507C>T	ENST00000368655.4	-	9	1764	c.1521G>A	c.(1519-1521)acG>acA	p.T507T		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	507					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)	p.T507T(1)		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)			CCTGCCGAAGCGTATGATGTC	0.443																																					p.T507T													GATAD2B,colon,carcinoma,0,1	GATAD2B	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.G1521A												123	117	119					1																	153784507		2203	4300	6503	SO:0001819	synonymous_variant	57459	exon9			CCGAAGCGTATGA	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.1521G>A	1.37:g.153784507C>T			65	0	0		70	0.09	6	NM_020699	53	0.06	3	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	CCDS1054.1																																																																																					0.443	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090305.1		NM_020699		T	153784507	C	T	153784507	2	4	137	1	0	0	0	0	0	0	0	1	6275	755	27	1		1	GATAD2B	1	153784507	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	43200068	153784507	95466114	7	10091											
SPTA1	6708	broad.mit.edu	37	chr1	158605702	158605702	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttctgtatcccactcaCcgggccttggccaactcttt	5	12	8	16	1	3	0	1	0	2	0	4	0	4	0	5	3	1	1	5	3	2	4			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr1:158605702C>T	ENST00000368147.4	-	38	5613		c.e38+1			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)					ATCCCACTCACCGGGCCTTGG	0.537																																					.													.	SPTA1	720		0			c.5432+1G>A												73	76	75					1																	158605702		1924	4141	6065	SO:0001630	splice_region_variant	6708	exon39			CACTCACCGGGCC	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.5432+1G>A	1.37:g.158605702C>T			89	0	0		123	0.07	9	NM_003126	0		0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875870	0.91664	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4695	0.90767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156872326	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.106000	0.77039	2.941000	0.99782	0.655000	0.94253	.			0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051851.3		NM_003126	Intron	T	158605702	C	T	158605702	5	4	137	1	0	0	0	0	0	0	1	0	15139	521	18	3	1886	3	SPTA1	1	158605702	Splice_Site	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	4821195	158605702	90644919	8	10092											
C2orf16	84226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	27800712	27800712	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgcccctgaagcaaacaAgtcaagttataggacatgaa	16	7	10	8	0	1	2	1	2	0	0	1	3	1	3	2	2	3	2	2	2	7	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr2:27800712A>T	ENST00000408964.2	+	1	1324	c.1273A>T	c.(1273-1275)Agt>Tgt	p.S425C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	425						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAAGCAAACAAGTCAAGTTAT	0.438																																					p.S425C													C2orf16_ENST00000408964,colon,carcinoma,0,2	C2orf16_ENST00000408964	0	2	0			c.A1273T												78	77	77					2																	27800712		1904	4108	6012	SO:0001583	missense	84226	exon1			CAAACAAGTCAAG	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1273A>T	2.37:g.27800712A>T	ENSP00000386190:p.Ser425Cys		100	0	0		107	0.28	30	NM_032266	1	0	0	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.697495	0.48307	.	.	ENSG00000221843	ENST00000408964	T	0.05786	3.39	3.16	-5.27	0.02763	.	.	.	.	.	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B	0.24368	0.102	B	0.21546	0.035	T	0.42531	-0.9446	9	0.48119	T	0.1	.	1.1214	0.01725	0.4542:0.1505:0.2465:0.1489	.	425	Q68DN1	CB016_HUMAN	C	425	ENSP00000386190:S425C	ENSP00000386190:S425C	S	+	1	0	C2orf16	27654216	0.000000	0.05858	0.001000	0.08648	0.276000	0.26787	-1.627000	0.02033	-1.174000	0.02754	0.460000	0.39030	AGT			0.438	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353292.1		NM_032266		T	27800712	A	T	27800712	3	4	137	1	0	0	0	0	1	0	0	0	2159	72	3	5	1275	5	C2orf16	2	27800712	Missense_Mutation	SNP	A	TCGA-YU-A94I-01A-11D-A435-10		27800712	215398661	9	10093											
HTRA2	27429	broad.mit.edu	37	chr2	74757160	74757160	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgagggcggggcggggTgcaggctggagccttcgggc	3	4	23	11	5	0	0	0	0	0	0	1	2	0	1	2	8	2	2	2	8	0	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr2:74757160T>G	ENST00000258080.3	+	1	657	c.27T>G	c.(25-27)ggT>ggG	p.G9G	HTRA2_ENST00000352222.3_Silent_p.G9G|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	9					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CGGGGCGGGGTGCAGGCTGGA	0.716																																					p.G9G													.	HTRA2	22		0			c.T27G												16	22	20					2																	74757160		1818	3808	5626	SO:0001819	synonymous_variant	27429	exon1			GCGGGGTGCAGGC		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.27T>G	2.37:g.74757160T>G			40	0.2	8		58	0.36	21	NM_013247	3	0	0	Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	CCDS1951.1																																																																																					0.716	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252219.2		NM_013247		G	74757160	T	G	74757160	2	3	137	1	0	0	0	0	0	0	0	1	7469	1683	59	4		4	HTRA2	2	74757160	Silent	SNP	T	TCGA-YU-A94I-01A-11D-A435-10	46956448	74757160	168442213	10	10094											
RGPD4	285190	ucsc.edu	37	chr2	108487826	108487826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actacaatgaacctgaagccCctgtctggatcagatagagc	13	8	9	11	0	2	4	1	2	1	2	2	5	2	5	3	1	4	0	3	1	5	2	rs2556258	byFrequency	TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr2:108487826C>T	ENST00000408999.3	+	20	3443	c.3366C>T	c.(3364-3366)ccC>ccT	p.P1122P	RGPD4_ENST00000354986.4_Silent_p.P1122P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1122	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCTGAAGCCCCTGTCTGGAT	0.438													N|||	1974	0.394169	0.4145	0.3199	5008	,	,		10220	0.1458		0.5437	False		,,,				2504	0.5215				p.P1122P													.	RGPD4	112		0			c.C3366T												7	6	6					2																	108487826		280	760	1040	SO:0001819	synonymous_variant	285190	exon20			GAAGCCCCTGTCT	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.3366C>T	2.37:g.108487826C>T			19	0.1052631579	2		18	0.61	11	NM_182588	4	0	0	B9A029	Silent	SNP	ENST00000408999.3	37	CCDS46381.1																																																																																					0.438	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330096.2		XM_496581		T	108487826	C	T	108487826	2	4	137	1	0	0	0	0	0	0	0	1	13311	610	22	3		3	RGPD4	2	108487826	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	33730666	108487826	134711547	11	10095											
UBXN4	23190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	136528187	136528187	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaaactggaaaagaaaTgttggattataaaagaaaac	23	7	9	2	0	0	3	0	0	0	3	0	6	0	5	0	2	2	1	0	2	10	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr2:136528187T>A	ENST00000272638.9	+	8	1015	c.704T>A	c.(703-705)aTg>aAg	p.M235K	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	235					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GGAAAAGAAATGTTGGATTAT	0.328																																					p.M235K													.	.			0			c.T704A												72	66	68					2																	136528187		1804	4067	5871	SO:0001583	missense	23190	exon8			AAGAAATGTTGGA	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.704T>A	2.37:g.136528187T>A	ENSP00000272638:p.Met235Lys		349	0	0		361	0.25	91	NM_014607	203	0.26	53	A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703882	0.68501	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.17691	2.26	5.54	5.54	0.83059	.	0.545156	0.23314	N	0.049528	T	0.25717	0.0626	M	0.86268	2.805	0.58432	D	0.999993	B	0.32245	0.361	B	0.35470	0.203	T	0.18903	-1.0322	10	0.06236	T	0.91	.	15.668	0.77247	0.0:0.0:0.0:1.0	.	235	Q92575	UBXN4_HUMAN	K	235;217	ENSP00000272638:M235K	ENSP00000272638:M235K	M	+	2	0	UBXN4	136244657	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.679000	0.61649	2.106000	0.64143	0.477000	0.44152	ATG			0.328	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331696.1		NM_014607		A	136528187	T	A	136528187	3	1	137	1	0	0	0	0	1	0	0	0	16940	1464	51	5	734	5	UBXN4	2	136528187	Missense_Mutation	SNP	T	TCGA-YU-A94I-01A-11D-A435-10	28040361	136528187	106671186	12	10096											
ACVR2A	92	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	148657362	148657362	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctattacaacatcctgctCtattccttggtgccacttat	8	15	4	14	0	1	0	0	0	1	0	3	0	3	0	4	1	4	1	4	1	5	6			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr2:148657362C>G	ENST00000241416.7	+	4	1059	c.423C>G	c.(421-423)ctC>ctG	p.L141L	ACVR2A_ENST00000404590.1_Silent_p.L141L|ACVR2A_ENST00000535787.1_Silent_p.L33L|AC009480.3_ENST00000402410.2_RNA	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	141					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)			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)		ACATCCTGCTCTATTCCTTGG	0.433																																					p.L141L													.	.			0			c.C423G												295	282	287					2																	148657362		2203	4300	6503	SO:0001819	synonymous_variant	92	exon4			CCTGCTCTATTCC		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.423C>G	2.37:g.148657362C>G			251	0	0		230	0.3	68	NM_001616	34	0.35	12	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Silent	SNP	ENST00000241416.7	37	CCDS33301.1																																																																																					0.433	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319051.1		NM_001616		G	148657362	C	G	148657362	2	3	137	1	0	0	0	0	0	0	0	1	223	900	32	5		5	ACVR2A	2	148657362	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	12129175	148657362	94542011	13	10097											
ASNSD1	54529	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr2	190535267	190535267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaattggtgaaaaattaCttttacgccttgcagctgtg	11	13	11	6	1	0	1	0	1	0	0	0	3	0	2	1	2	4	2	1	2	5	5			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr2:190535267C>T	ENST00000260952.4	+	6	2160	c.1747C>T	c.(1747-1749)Ctt>Ttt	p.L583F	ASNSD1_ENST00000607062.1_Missense_Mutation_p.L102F	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	583	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGAAAAATTACTTTTACGCCT	0.413																																					p.L583F													.	ASNSD1	63		0			c.C1747T												84	84	84					2																	190535267		2203	4300	6503	SO:0001583	missense	54529	exon6			AAATTACTTTTAC	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1747C>T	2.37:g.190535267C>T	ENSP00000260952:p.Leu583Phe		270	0.0037037037	1		253	0.21	53	NM_019048	179	0.17	30	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.480930	0.44044	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.51071	0.72;0.72	5.88	-3.83	0.04269	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.275265	0.41396	D	0.000886	T	0.67720	0.2923	M	0.88512	2.96	0.42030	D	0.991027	P	0.50066	0.931	P	0.56916	0.809	T	0.79864	-0.1623	10	0.72032	D	0.01	-10.2585	21.3049	0.99951	0.2529:0.7471:0.0:0.0	.	583	Q9NWL6	ASND1_HUMAN	F	583	ENSP00000260952:L583F;ENSP00000406790:L583F	ENSP00000260952:L583F	L	+	1	0	ASNSD1	190243512	0.656000	0.27385	0.105000	0.21289	0.274000	0.26718	0.607000	0.24209	-0.455000	0.07054	-0.410000	0.06199	CTT			0.413	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255919.3		NM_019048		T	190535267	C	T	190535267	3	4	137	1	0	0	0	0	1	0	0	0	1049	565	20	3	1757	3	ASNSD1	2	190535267	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	41877905	190535267	52664106	14	10098											
FANCD2	2177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	10132048	10132048	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaaaaattgagcctggCacagcagcagactcgcagca	15	5	11	10	1	0	3	0	2	0	1	1	3	0	3	1	1	4	5	1	1	3	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr3:10132048C>T	ENST00000419585.1	+	37	3917	c.3756C>T	c.(3754-3756)ggC>ggT	p.G1252G	FANCD2_ENST00000383806.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000287647.3_Silent_p.G1252G|FANCD2_ENST00000383807.1_Silent_p.G1252G|FANCD2OS_ENST00000524279.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1252					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)		TTGAGCCTGGCACAGCAGCAG	0.408			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.G1252G			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	.	.			0			c.C3756T												72	62	65					3																	10132048		2203	4300	6503	SO:0001819	synonymous_variant	2177	exon37	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GCCTGGCACAGCA	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.3756C>T	3.37:g.10132048C>T			56	0	0		52	0.52	27	NM_001018115	151	0.74	111	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																					0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339873.1				T	10132048	C	T	10132048	2	4	137	1	0	0	0	0	0	0	0	1	5678	697	25	2		2	FANCD2	3	10132048	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10		10132048	187890382	15	10099											
PARP15	165631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	122296590	122296590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagaacttatgcacggaGttgcaggtgttacttccaga	11	10	11	9	1	0	2	0	0	0	2	1	4	1	3	2	2	4	4	2	2	3	4			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr3:122296590G>C	ENST00000464300.2	+	1	142	c.76G>C	c.(76-78)Gtt>Ctt	p.V26L	PARP15_ENST00000483793.1_Missense_Mutation_p.V26L	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TATGCACGGAGTTGCAGGTGT	0.687																																					p.V26L													.	.			0			c.G76C												43	44	44					3																	122296590		692	1591	2283	SO:0001583	missense	165631	exon1			CACGGAGTTGCAG	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.76G>C	3.37:g.122296590G>C	ENSP00000417214:p.Val26Leu		113	0	0		124	0.65	81	NM_001113523	1	0	0	J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481830	0.26598	.	.	ENSG00000173200	ENST00000464300;ENST00000483793	T;T	0.16897	2.68;2.31	2.77	0.77	0.18497	.	.	.	.	.	T	0.08980	0.0222	N	0.14661	0.345	0.18873	N	0.999988	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.003	T	0.35151	-0.9800	9	0.33141	T	0.24	.	6.2995	0.21105	0.0:0.2049:0.5844:0.2107	.	26;4	C9J7L3;Q460N3	.;PAR15_HUMAN	L	26	ENSP00000417214:V26L;ENSP00000417785:V26L	ENSP00000417214:V26L	V	+	1	0	PARP15	123779280	0.798000	0.28890	0.001000	0.08648	0.002000	0.02628	1.562000	0.36353	0.174000	0.19809	0.561000	0.74099	GTT			0.687	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355964.2		NM_152615		C	122296590	G	C	122296590	3	2	137	1	0	0	0	0	1	0	0	0	11476	1029	36	5	78	5	PARP15	3	122296590	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	112164542	122296590	75725840	16	10100											
CCDC48	79825	broad.mit.edu	37	chr3	128721009	128721011	+	In_Frame_Del	DEL	CGC	CGC	-																															agatccgcctgcgccgtccgCgccgccgccgccgcccgccc																								rs531145864	byFrequency	TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	CGC	CGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr3:128721009_128721011delCGC	ENST00000480450.1	+	1	538_540	c.538_540delCGC	c.(538-540)cgcdel	p.R184del	EFCC1_ENST00000436022.2_5'UTR|KIAA1257_ENST00000510149.1_Intron			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	184	Poly-Arg.						calcium ion binding (GO:0005509)										GCGCCGTccgcgccgccgccgcc	0.754																																					p.180_180del													.	.			0			c.538_540del									15,1277		5,5,636						1.8	0.9			3	26,2792		4,18,1387	no	coding	CCDC48	NM_024768.2		9,23,2023	A1A1,A1R,RR		0.9226,1.161,0.9976				41,4069				SO:0001651	inframe_deletion	79825	exon1			CGTCCGCGCCGCC	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.538_540delCGC	3.37:g.128721018_128721020delCGC	ENSP00000420075:p.Arg184del		10	0	0		6	0.33	2	NM_024768	0		0	A8MYE2	In_Frame_Del	DEL	ENST00000480450.1	37	CCDS3054.2																																																																																					0.754	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000352832.1		NM_024768		-	128721011	CGC	-	128721009	7	5	137	1	0	1	0	1	0	0	0	0	2821	768	27	0	540	0	CCDC48	3	128721009	In_Frame_Del	DEL	CGC	TCGA-YU-A94I-01A-11D-A435-10	6424419	128721009	69301421	17	10101											
TTC14	151613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	180320071	180320071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgggaccttttgcggCagtcgctaaattgccacggg	7	9	14	11	4	0	0	0	0	0	0	1	2	0	2	3	4	2	2	3	4	2	4			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr3:180320071C>G	ENST00000296015.4	+	1	154	c.22C>G	c.(22-24)Cag>Gag	p.Q8E	RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000412756.2_Missense_Mutation_p.Q8E|TTC14_ENST00000382584.4_Missense_Mutation_p.Q8E	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	8							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)			CCTTTTGCGGCAGTCGCTAAA	0.617																																					p.Q8E													.	.			0			c.C22G												60	59	59					3																	180320071		2203	4300	6503	SO:0001583	missense	151613	exon1			TTGCGGCAGTCGC	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.22C>G	3.37:g.180320071C>G	ENSP00000296015:p.Gln8Glu		45	0	0		56	0.29	16	NM_001042601	28	0.36	10	G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829863	0.71258	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584	T;T	0.58506	0.33;0.33	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	M	0.64997	1.995	0.46849	D	0.999228	D;D;P	0.61697	0.99;0.99;0.956	P;D;D	0.72982	0.848;0.979;0.931	T	0.75825	-0.3181	10	0.87932	D	0	-9.853	16.4418	0.83903	0.0:1.0:0.0:0.0	.	8;8;8	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	E	8	ENSP00000296015:Q8E;ENSP00000372027:Q8E	ENSP00000296015:Q8E	Q	+	1	0	TTC14	181802765	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	4.197000	0.58413	2.640000	0.89533	0.591000	0.81541	CAG			0.617	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349786.1		NM_133462		G	180320071	C	G	180320071	3	3	137	1	0	0	0	0	1	0	0	0	16705	711	25	5	24	5	TTC14	3	180320071	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	51599062	180320071	17702359	18	10102											
TP63	8626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr3	189586470	189586470	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagaaagcagcaagtttCggacagtacaaagaacggtg	16	6	11	8	2	1	2	1	0	0	2	2	3	1	3	0	2	4	4	0	2	5	2	rs147148566		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr3:189586470C>A	ENST00000264731.3	+	8	1183	c.1094C>A	c.(1093-1095)tCg>tAg	p.S365*	TP63_ENST00000456148.1_Nonsense_Mutation_p.S271*|TP63_ENST00000392460.3_Nonsense_Mutation_p.S365*|TP63_ENST00000440651.2_Nonsense_Mutation_p.S365*|TP63_ENST00000320472.5_Nonsense_Mutation_p.S365*|TP63_ENST00000392463.2_Nonsense_Mutation_p.S271*|TP63_ENST00000382063.4_Nonsense_Mutation_p.S280*|TP63_ENST00000449992.1_Nonsense_Mutation_p.S186*|TP63_ENST00000418709.2_Nonsense_Mutation_p.S365*|TP63_ENST00000437221.1_Nonsense_Mutation_p.S271*|TP63_ENST00000392461.3_Nonsense_Mutation_p.S271*|TP63_ENST00000354600.5_Nonsense_Mutation_p.S271*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|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)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.S365L(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGCAAGTTTCGGACAGTACA	0.537										HNSCC(45;0.13)																											p.S365X													TP63_ENST00000418709,mucosal,malignant_melanoma,0,6	TP63_ENST00000418709	0	6	3	Substitution - Missense(3)	skin(2)|kidney(1)	c.C1094A												129	122	124					3																	189586470		2203	4300	6503	SO:0001587	stop_gained	8626	exon8			AAGTTTCGGACAG	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1094C>A	3.37:g.189586470C>A	ENSP00000264731:p.Ser365*		112	0	0		131	0.37	48	NM_001114979	0		0	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608202	0.96626	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	.	.	.	6.03	6.03	0.97812	.	0.057185	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.2957	19.5548	0.95338	0.0:1.0:0.0:0.0	.	.	.	.	X	365;365;365;365;365;280;271;271;271;271;186;271	.	.	S	+	2	0	TP63	191069164	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.593000	0.54001	2.854000	0.98071	0.655000	0.94253	TCG			0.537	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000343865.1		NM_003722		A	189586470	C	A	189586470	4	1	137	1	0	0	0	0	0	1	0	0	16416	893	31	1	1170	1	TP63	3	189586470	Nonsense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	9266399	189586470	8435960	19	10103											
NFXL1	152518	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	47901125	47901125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaccatctttggacaaGgagggcagggacctagaatt	11	10	13	7	0	1	2	0	1	1	1	1	5	1	5	2	4	0	1	2	4	3	4			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr4:47901125G>A	ENST00000507489.1	-	7	1015	c.839C>T	c.(838-840)cCt>cTt	p.P280L	NFXL1_ENST00000381538.3_Missense_Mutation_p.P280L|NFXL1_ENST00000329043.3_Missense_Mutation_p.P280L	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	280						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						CTTTGGACAAGGAGGGCAGGG	0.368																																					p.P280L													.	NFXL1	79		0			c.C839T												70	65	67					4																	47901125		2203	4300	6503	SO:0001583	missense	152518	exon7			GGACAAGGAGGGC	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.839C>T	4.37:g.47901125G>A	ENSP00000422037:p.Pro280Leu		132	0.0151515152	2		76	0.42	32	NM_152995	33	0.58	19	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068315	0.76301	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	D;D;D	0.82803	-1.65;-1.65;-1.65	4.85	4.85	0.62838	Zinc finger, NF-X1-type (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94992	0.8135	10	0.87932	D	0	-8.7826	17.9625	0.89090	0.0:0.0:1.0:0.0	.	280	Q6ZNB6	NFXL1_HUMAN	L	280	ENSP00000370949:P280L;ENSP00000422037:P280L;ENSP00000333113:P280L	ENSP00000333113:P280L	P	-	2	0	NFXL1	47595882	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.468000	0.97676	2.215000	0.71742	0.655000	0.94253	CCT			0.368	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361636.1		NM_152995		A	47901125	G	A	47901125	3	1	137	1	0	0	0	0	1	0	0	0	10405	1000	35	3	1964	3	NFXL1	4	47901125	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		47901125	143253151	20	10104											
CNGA1	1259	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	47939764	47939764	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtatcagtgacagaacAtcaagtttaaattgcaagtt	14	13	9	5	0	2	2	2	1	0	1	2	2	2	2	0	1	2	5	0	1	6	6			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr4:47939764A>C	ENST00000514170.1	-	11	1066	c.747T>G	c.(745-747)gaT>gaG	p.D249E	CNGA1_ENST00000544810.1_Missense_Mutation_p.D249E|CNGA1_ENST00000402813.3_Missense_Mutation_p.D318E|CNGA1_ENST00000420489.2_Missense_Mutation_p.D249E|CNGA1_ENST00000358519.4_Missense_Mutation_p.D249E			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	249					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						GTGACAGAACATCAAGTTTAA	0.318																																					p.D318E													.	.			0			c.T954G												110	112	112					4																	47939764		1812	4077	5889	SO:0001583	missense	1259	exon10			CAGAACATCAAGT	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.747T>G	4.37:g.47939764A>C	ENSP00000426862:p.Asp249Glu		184	0	0		109	0.39	42	NM_001142564	1	0	0	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985517	0.35036	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.99270	-5.66;-5.66;-5.66;-5.66;-5.66	5.33	1.56	0.23342	Ion transport (1);	0.046946	0.85682	D	0.000000	D	0.99510	0.9825	H	0.97611	4.04	0.44194	D	0.997019	D;D	0.65815	0.995;0.995	D;D	0.70487	0.969;0.969	D	0.99153	1.0859	10	0.87932	D	0	.	8.9009	0.35495	0.7844:0.0:0.2156:0.0	.	249;249	Q4W5E3;P29973	.;CNGA1_HUMAN	E	318;249;249;249;249	ENSP00000384264:D318E;ENSP00000426862:D249E;ENSP00000443401:D249E;ENSP00000351320:D249E;ENSP00000389881:D249E	ENSP00000351320:D249E	D	-	3	2	CNGA1	47634521	0.972000	0.33761	0.975000	0.42487	0.188000	0.23474	1.394000	0.34509	0.329000	0.23460	0.529000	0.55759	GAT			0.318	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000372070.2		NM_000087		C	47939764	A	C	47939764	3	2	137	1	0	0	0	0	1	0	0	0	3598	214	8	4	1329	4	CNGA1	4	47939764	Missense_Mutation	SNP	A	TCGA-YU-A94I-01A-11D-A435-10	38639	47939764	143214512	21	10105											
HSD17B4	3295	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	118809607	118809607	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttgcattacagtgaaTgatttgggaggggacttcaa	10	15	12	4	0	1	2	1	2	0	0	1	4	1	4	0	3	2	2	0	3	3	5			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr5:118809607T>C	ENST00000256216.6	+	3	250	c.117T>C	c.(115-117)aaT>aaC	p.N39N	HSD17B4_ENST00000515320.1_Silent_p.N21N|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000510025.1_Silent_p.N15N|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000504811.1_Silent_p.N64N|HSD17B4_ENST00000414835.2_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	39	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTACAGTGAATGATTTGGGAG	0.378																																					p.N64N	Colon(35;490 801 34689 41394 43344)												.	HSD17B4	63		0			c.T192C												118	120	119					5																	118809607		2202	4300	6502	SO:0001819	synonymous_variant	3295	exon4			AGTGAATGATTTG		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.117T>C	5.37:g.118809607T>C			118	0	0		80	0.41	33	NM_001199291	169	0.51	86	B4DNV1|B4DVS5|E9PB82|F5HE57	Silent	SNP	ENST00000256216.6	37	CCDS4126.1																																																																																					0.378	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250863.3		NM_000414		C	118809607	T	C	118809607	2	2	137	1	0	0	0	0	0	0	0	1	7401	1461	51	4		4	HSD17B4	5	118809607	Silent	SNP	T	TCGA-YU-A94I-01A-11D-A435-10		118809607	62105653	22	10106											
PCDHB6	56130	mdanderson.org	37	chr5	140531342	140531342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgcccctctcttccctgGtctccatcaacgcggacaac	7	9	6	19	2	3	0	1	0	2	0	6	1	4	1	5	2	3	0	5	2	2	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr5:140531342G>T	ENST00000231136.1	+	1	1504	c.1504G>T	c.(1504-1506)Gtc>Ttc	p.V502F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V366F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	502	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)			CTCTTCCCTGGTCTCCATCAA	0.667																																					p.V502F													.	.			0			c.G1504T												77	83	81					5																	140531342		2201	4297	6498	SO:0001583	missense	56130	exon1			TCCCTGGTCTCCA	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.1504G>T	5.37:g.140531342G>T	ENSP00000231136:p.Val502Phe		54	0	0		34	0.09	3	NM_018939	8	0	0	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775469	0.31411	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.21191	2.02;2.02	4.07	2.88	0.33553	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16128	0.0388	N	0.01800	-0.715	0.23430	N	0.997694	D	0.67145	0.996	D	0.70716	0.97	T	0.10451	-1.0629	9	0.87932	D	0	.	3.528	0.07766	0.1289:0.1539:0.56:0.1571	.	502	Q9Y5E3	PCDB6_HUMAN	F	366;502;287	ENSP00000438466:V366F;ENSP00000231136:V502F	ENSP00000231136:V502F	V	+	1	0	PCDHB6	140511526	0.000000	0.05858	0.791000	0.31998	0.474000	0.32979	-0.884000	0.04166	1.986000	0.57962	0.556000	0.70494	GTC			0.667	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251818.2		NM_018939		T	140531342	G	T	140531342	3	4	137	1	0	0	0	0	1	0	0	0	11563	1261	44	3	1506	3	PCDHB6	5	140531342	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	21721735	140531342	40383918	23	10107											
SQSTM1	8878	mdanderson.org	37	chr5	179251214	179251214	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgctggctccggaaggtGaaacacggacacttcgggtg	9	6	15	11	4	0	1	0	1	0	0	2	3	1	3	2	5	2	2	2	5	2	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr5:179251214G>T	ENST00000389805.4	+	4	742	c.564G>T	c.(562-564)gtG>gtT	p.V188V	SQSTM1_ENST00000376929.3_Silent_p.V104V|SQSTM1_ENST00000402874.3_Silent_p.V104V|SQSTM1_ENST00000360718.5_Silent_p.V104V|SQSTM1_ENST00000510187.1_Silent_p.V188V	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	188	Interaction with GABRR3. {ECO:0000250}.|LIM protein-binding (LB).				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGGAAGGTGAAACACGGAC	0.672																																					p.V188V													.	.			0			c.G564T												48	54	52					5																	179251214		2203	4300	6503	SO:0001819	synonymous_variant	8878	exon4			GAAGGTGAAACAC	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.564G>T	5.37:g.179251214G>T			99	0	0		48	0.08	4	NM_003900	355	0	0	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Silent	SNP	ENST00000389805.4	37	CCDS34317.1																																																																																					0.672	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319344.1				T	179251214	G	T	179251214	2	4	137	1	0	0	0	0	0	0	0	1	15153	1277	45	3		3	SQSTM1	5	179251214	Silent	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	38719872	179251214	1664046	24	10108											
FOXQ1	94234	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	1313345	1313345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatggccatccgcgactcgGcgggcgggcgcttgacgctg	4	6	16	15	7	0	1	0	1	0	0	2	2	1	1	3	4	0	2	3	4	0	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr6:1313345G>A	ENST00000296839.2	+	1	671	c.406G>A	c.(406-408)Gcg>Acg	p.A136T		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	136					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)		CCGCGACTCGGCGGGCGGGCG	0.682																																					p.A136T													.	.			0			c.G406A												26	29	28					6																	1313345		2149	4209	6358	SO:0001583	missense	94234	exon1			GACTCGGCGGGCG	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.406G>A	6.37:g.1313345G>A	ENSP00000296839:p.Ala136Thr		55	0	0		49	0.37	18	NM_033260	55	0.35	19	Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737827	0.69304	.	.	ENSG00000164379	ENST00000296839	D	0.95447	-3.71	3.87	0.868	0.19090	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.416111	0.23194	U	0.050862	D	0.89431	0.6713	N	0.16862	0.45	0.33192	D	0.551034	D	0.58620	0.983	P	0.57846	0.828	D	0.86589	0.1859	10	0.56958	D	0.05	.	7.3274	0.26563	0.0962:0.3253:0.5785:0.0	.	136	Q9C009	FOXQ1_HUMAN	T	136	ENSP00000296839:A136T	ENSP00000296839:A136T	A	+	1	0	FOXQ1	1258345	0.000000	0.05858	0.231000	0.23993	0.762000	0.43233	-0.112000	0.10791	0.125000	0.18397	0.184000	0.17185	GCG			0.682	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043410.1		NM_033260		A	1313345	G	A	1313345	3	1	137	1	0	0	0	0	1	0	0	0	6043	1203	42	2	408	2	FOXQ1	6	1313345	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		1313345	169801722	25	10109											
SKIV2L	6499	mdanderson.org	37	chr6	31931201	31931201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcaggcggctgaagcGtcgtcagatctatgtgatta	8	14	11	8	3	4	3	2	2	2	1	5	3	4	3	0	2	1	1	0	2	3	4	rs144001502		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr6:31931201G>T	ENST00000375394.2	+	14	1528	c.1415G>T	c.(1414-1416)cGt>cTt	p.R472L	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R279L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	472	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CGGCTGAAGCGTCGTCAGATC	0.577																																					p.R472L													.	.			0			c.G1415T												66	65	65					6																	31931201		2203	4300	6503	SO:0001583	missense	6499	exon14			TGAAGCGTCGTCA		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1415G>T	6.37:g.31931201G>T	ENSP00000364543:p.Arg472Leu		57	0	0		45	0.07	3	NM_006929	138	0	0	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760419	0.69763	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.51071	0.84;0.72	5.3	5.3	0.74995	DEAD-like helicase (2);	0.063081	0.64402	D	0.000008	T	0.39384	0.1076	M	0.87900	2.915	0.35398	D	0.791304	P	0.50943	0.94	B	0.37780	0.258	T	0.59658	-0.7413	10	0.72032	D	0.01	-11.1345	11.3663	0.49673	0.0835:0.0:0.9165:0.0	.	472	Q15477	SKIV2_HUMAN	L	472;314;279	ENSP00000364543:R472L;ENSP00000442645:R279L	ENSP00000364543:R472L	R	+	2	0	SKIV2L	32039180	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.402000	0.59722	2.757000	0.94681	0.650000	0.86243	CGT			0.577	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076264.3				T	31931201	G	T	31931201	3	4	137	1	0	0	0	0	1	0	0	0	14382	1145	40	1	1469	1	SKIV2L	6	31931201	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	30617856	31931201	139183866	26	10110											
TAB2	23118	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	149699839	149699839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactacttgtcctgcatctaAtcctctgtcacatacctcat	9	14	4	14	0	4	0	2	0	2	0	6	1	6	0	3	0	3	1	3	0	3	4			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr6:149699839A>G	ENST00000367456.1	+	4	1365	c.788A>G	c.(787-789)aAt>aGt	p.N263S	TAB2_ENST00000536230.1_Missense_Mutation_p.N231S|TAB2_ENST00000392282.1_Missense_Mutation_p.N263S|TAB2_ENST00000538427.1_Missense_Mutation_p.N263S|TAB2_ENST00000286332.5_Missense_Mutation_p.N263S			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	263					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCTGCATCTAATCCTCTGTCA	0.483																																					p.N263S													.	.			0			c.A788G												180	164	169					6																	149699839		2203	4300	6503	SO:0001583	missense	23118	exon5			CATCTAATCCTCT	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.788A>G	6.37:g.149699839A>G	ENSP00000356426:p.Asn263Ser		127	0	0		84	0.18	15	NM_015093	113	0.29	33	B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.147225	0.00029	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.70282	-0.44;-0.47;-0.45;-0.45;-0.45	6.16	-3.52	0.04682	.	0.678516	0.16363	N	0.217691	T	0.10680	0.0261	N	0.01352	-0.895	0.19775	N	0.99996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43032	-0.9416	10	0.02654	T	1	-1.4554	8.1073	0.30894	0.4141:0.2007:0.3853:0.0	.	231;263	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	S	231;263;263;263;263	ENSP00000443206:N231S;ENSP00000376106:N263S;ENSP00000445752:N263S;ENSP00000356426:N263S;ENSP00000286332:N263S	ENSP00000286332:N263S	N	+	2	0	TAB2	149741532	0.977000	0.34250	0.198000	0.23420	0.004000	0.04260	0.224000	0.17738	-0.579000	0.05952	-0.323000	0.08544	AAT			0.483	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042633.3				G	149699839	A	G	149699839	3	3	137	1	0	0	0	0	1	0	0	0	15519	101	4	4	794	4	TAB2	6	149699839	Missense_Mutation	SNP	A	TCGA-YU-A94I-01A-11D-A435-10	117768638	149699839	21415228	27	10111											
AGFG2	3268	mdanderson.org	37	chr7	100137130	100137130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcgagtgcgcccagcgcgGggtcacctacgtggatatca	7	8	13	13	5	2	0	2	0	0	0	3	2	2	1	2	3	3	0	2	3	2	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr7:100137130G>T	ENST00000300176.4	+	1	283	c.161G>T	c.(160-162)gGg>gTg	p.G54V	AGFG2_ENST00000262935.4_Missense_Mutation_p.G54V	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	54	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCCAGCGCGGGGTCACCTAC	0.721																																					p.G54V													.	.			0			c.G161T												14	12	13					7																	100137130		2169	4246	6415	SO:0001583	missense	3268	exon1			AGCGCGGGGTCAC	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.161G>T	7.37:g.100137130G>T	ENSP00000300176:p.Gly54Val		24	0	0		28	0.11	3	NM_006076	83	0	0	O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259542	0.95368	.	.	ENSG00000106351	ENST00000300176;ENST00000262935	T;T	0.47528	0.84;0.84	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.82542	-0.0405	10	0.87932	D	0	-10.1059	15.0468	0.71833	0.0:0.0:1.0:0.0	.	54;54	O95081-2;O95081	.;AGFG2_HUMAN	V	54	ENSP00000300176:G54V;ENSP00000262935:G54V	ENSP00000262935:G54V	G	+	2	0	AGFG2	99975066	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.874000	0.92363	2.624000	0.88883	0.456000	0.33151	GGG			0.721	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342769.1		NM_006076		T	100137130	G	T	100137130	3	4	137	1	0	0	0	0	1	0	0	0	381	1232	43	3	163	3	AGFG2	7	100137130	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		100137130	59001533	28	10112											
LUC7L2	100996928	broad.mit.edu	37	chr7	139060888	139060888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgttgtcctcatgatGtcctttctggaactgtatgt	7	17	8	9	0	3	1	2	1	1	0	5	2	5	2	2	1	2	2	2	1	3	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr7:139060888G>T	ENST00000354926.4	+	2	496	c.142G>T	c.(142-144)Gtc>Ttc	p.V48F	LUC7L2_ENST00000541515.3_Missense_Mutation_p.V114F|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.V45F|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.V47F	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		TCCTCATGATGTCCTTTCTGG	0.343																																					p.V114F													.	.			0			c.G340T												157	148	151					7																	139060888		1921	4140	6061	SO:0001583	missense	0	exon3			CATGATGTCCTTT		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.142G>T	7.37:g.139060888G>T	ENSP00000347005:p.Val48Phe		148	0.0067567568	1		130	0.03	4	NM_001244584	168	0	0		Missense_Mutation	SNP	ENST00000354926.4	37	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796606	0.70567	.	.	ENSG00000146963	ENST00000448820;ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.45668	0.89;1.49;0.89;0.89	5.98	5.98	0.97165	.	0.055120	0.64402	D	0.000001	T	0.55210	0.1906	L	0.42245	1.32	0.37821	D	0.928394	D;D;D;D	0.63046	0.992;0.971;0.989;0.971	D;P;D;P	0.67900	0.954;0.901;0.923;0.857	T	0.62751	-0.6788	9	0.87932	D	0	-8.3111	13.6246	0.62157	0.0707:0.0:0.9293:0.0	.	114;45;47;48	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	F	45;45;114;48;48;47	ENSP00000441604:V45F;ENSP00000440222:V114F;ENSP00000347005:V48F;ENSP00000263545:V47F	ENSP00000263545:V47F	V	+	1	0	LUC7L2	138711428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.450000	0.80656	2.834000	0.97654	0.655000	0.94253	GTC			0.343	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323618.2				T	139060888	G	T	139060888	3	4	137	1	0	0	0	0	1	0	0	0	9099	1377	48	3	148	3	LUC7L2	7	139060888	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	38923758	139060888	20077775	29	10113											
LUC7L2	100996928	mdanderson.org	37	chr7	139086888	139086888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattaaactttgtaggccatGgatcatctgcagtcattcat	12	14	7	8	0	4	0	3	0	1	0	4	1	4	1	1	2	2	2	1	2	4	4			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr7:139086888G>T	ENST00000354926.4	+	4	615	c.261G>T	c.(259-261)atG>atT	p.M87I	LUC7L2_ENST00000541515.3_Missense_Mutation_p.M153I|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.M84I|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.M86I	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		TGTAGGCCATGGATCATCTGC	0.338																																					p.M153I													.	.			0			c.G459T												75	66	69					7																	139086888		1838	4086	5924	SO:0001583	missense	100996928	exon5			GGCCATGGATCAT		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.261G>T	7.37:g.139086888G>T	ENSP00000347005:p.Met87Ile		44	0	0		42	0.07	3	NM_001244584	213	0	0		Missense_Mutation	SNP	ENST00000354926.4	37	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349961	0.82132	.	.	ENSG00000146963	ENST00000448820;ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.45276	1.63;1.63;1.63;0.9	5.69	5.69	0.88448	.	0.117720	0.85682	D	0.000000	T	0.48077	0.1480	L	0.60845	1.875	0.46356	D	0.999007	P;P;P;P	0.39311	0.467;0.467;0.616;0.667	B;B;B;B	0.41412	0.356;0.356;0.242;0.356	T	0.49960	-0.8883	9	0.45353	T	0.12	-13.1285	19.809	0.96540	0.0:0.0:1.0:0.0	.	153;84;86;87	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	I	84;84;153;87;87;86	ENSP00000441604:M84I;ENSP00000440222:M153I;ENSP00000347005:M87I;ENSP00000263545:M86I	ENSP00000263545:M86I	M	+	3	0	LUC7L2	138737428	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.866000	0.56040	2.676000	0.91093	0.561000	0.74099	ATG			0.338	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323618.2				T	139086888	G	T	139086888	3	4	137	1	0	0	0	0	1	0	0	0	9099	1348	47	3	275	3	LUC7L2	7	139086888	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	26000	139086888	20051775	30	10114											
KRBA1	84626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	149430318	149430318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacccatgagaggctgctcCcccagggcccgcctgagctg	7	5	13	16	1	0	3	0	2	0	2	1	4	1	3	5	2	2	3	5	2	0	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr7:149430318C>T	ENST00000485033.2	+	15	2092	c.2092C>T	c.(2092-2094)Ccc>Tcc	p.P698S	KRBA1_ENST00000319551.8_Missense_Mutation_p.P698S|KRBA1_ENST00000255992.10_Missense_Mutation_p.P758S|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	759	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGCTGCTCCCCCAGGGCCC	0.642																																					.													.	.			0			.												79	88	85					7																	149430318		1942	4120	6062	SO:0001583	missense	84626	.			CTGCTCCCCCAGG	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2092C>T	7.37:g.149430318C>T	ENSP00000420112:p.Pro698Ser		96	0	0		82	0.38	31	.	28	0.18	5	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37		.	.	.	.	.	.	.	.	.	.	C	9.530	1.110597	0.20714	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.26660	1.72;1.73;1.73	4.44	0.725	0.18242	.	0.643714	0.12991	N	0.422444	T	0.13543	0.0328	.	.	.	0.09310	N	1	B;B	0.25312	0.123;0.123	B;B	0.23574	0.032;0.047	T	0.27773	-1.0064	9	0.27785	T	0.31	-2.5346	3.8849	0.09094	0.393:0.452:0.0:0.155	.	698;759	E7ENE9;A5PL33	.;KRBA1_HUMAN	S	758;698;698	ENSP00000255992:P758S;ENSP00000317165:P698S;ENSP00000420112:P698S	ENSP00000255992:P758S	P	+	1	0	KRBA1	149061251	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.177000	0.09796	-0.091000	0.12440	0.563000	0.77884	CCC			0.642	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000349841.3		NM_032534		T	149430318	C	T	149430318	3	4	137	1	0	0	0	0	1	0	0	0	8454	623	22	3	2336	3	KRBA1	7	149430318	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	10343430	149430318	9708345	31	10115											
GPR124	25960	mdanderson.org	37	chr8	37687462	37687462	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctgtcggaacacacGctctgtgcttaccccagtgc	7	9	10	15	2	1	0	0	0	1	0	2	1	1	1	2	1	6	4	2	1	2	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr8:37687462G>T	ENST00000412232.2	+	6	661	c.648G>T	c.(646-648)acG>acT	p.T216T	GPR124_ENST00000315215.7_Silent_p.T216T	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	216	LRRCT.				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)			CGGAACACACGCTCTGTGCTT	0.662																																					p.T216T													.	.			0			c.G648T												42	37	38					8																	37687462		2202	4300	6502	SO:0001819	synonymous_variant	25960	exon6			ACACACGCTCTGT	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.648G>T	8.37:g.37687462G>T			52	0	0		31	0.1	3	NM_032777	34	0	0	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																					0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343331.2				T	37687462	G	T	37687462	2	4	137	1	0	0	0	0	0	0	0	1	6652	1074	38	1		1	GPR124	8	37687462	Silent	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		37687462	108676560	32	10116											
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu	37	chr8	77767796	77767797	+	In_Frame_Ins	INS	-	-	CGACCA																															catttcaatgacaaagatggINScgaccacgaccaaagctttt																								rs16939379	byFrequency	TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr8:77767796_77767797insCGACCA	ENST00000521891.2	+	10	9087_9088	c.8639_8640insCGACCA	c.(8638-8643)ggcgac>ggCGACCAcgac	p.2883_2884insHD	ZFHX4_ENST00000455469.2_In_Frame_Ins_p.2838_2839insHD|ZFHX4_ENST00000518282.1_In_Frame_Ins_p.2857_2858insHD|ZFHX4_ENST00000050961.6_In_Frame_Ins_p.2838_2839insHD	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2838					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)			GACAAAGATGGCGACCACGACC	0.52										HNSCC(33;0.089)																											p.G2880delinsGDH													.	ZFHX4	878		0			c.8639_8640insCGACCA																																									SO:0001652	inframe_insertion	79776	exon10			AAGATGGCGACCA		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.8646_8651dupCGACCA	8.37:g.77767797_77767802dupCGACCA	ENSP00000430497:p.His2882_Asp2883dup		95	0	0		65	0.23	15	NM_024721	0		0	G3V138|Q18PS0|Q6ZN20	In_Frame_Ins	INS	ENST00000521891.2	37	CCDS47878.2																																																																																					0.52	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379197.2		NM_024721		CGACCA	77767797	-	CGACCA	77767796	7	5	137	1	0	1	1	0	0	0	0	0	17658	1203	42	0	8673	0	ZFHX4	8	77767796	In_Frame_Ins	INS	-	TCGA-YU-A94I-01A-11D-A435-10	40080334	77767796	68596226	33	10117											
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	113308062	113308062	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttgccatgcttacttacGcacacaggatgggagctgac	9	11	10	11	1	0	1	0	1	0	0	0	3	0	3	1	2	5	3	1	2	2	4	rs199825870		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr8:113308062G>T	ENST00000297405.5	-	54	8858	c.8614C>A	c.(8614-8616)Cct>Act	p.P2872T	CSMD3_ENST00000455883.2_Splice_Site_p.P2703T|CSMD3_ENST00000352409.3_Splice_Site_p.P2802T|CSMD3_ENST00000343508.3_Splice_Site_p.P2832T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2872	Sushi 18. {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						GCTTACTTACGCACACAGGAT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P2872T													.	.			0			c.C8614A												106	88	94					8																	113308062		2203	4300	6503	SO:0001630	splice_region_variant	114788	exon54			ACTTACGCACACA	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.8614+1C>A	8.37:g.113308062G>T			146	0	0		82	0.35	29	NM_198123	2	1	2	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175892	0.78564	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.31	4.43	0.53597	Complement control module (1);Sushi/SCR/CCP (1);	0.075513	0.53938	D	0.000053	T	0.59851	0.2224	M	0.92970	3.365	0.58432	D	0.999992	P;P;D	0.89917	0.93;0.812;1.0	P;B;D	0.97110	0.768;0.436;1.0	T	0.70930	-0.4738	9	.	.	.	.	13.8879	0.63719	0.0734:0.0:0.9266:0.0	.	2703;2872;2832	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	2832;2872;2142;2703;2802	ENSP00000345799:P2832T;ENSP00000297405:P2872T;ENSP00000341558:P2142T;ENSP00000412263:P2703T;ENSP00000343124:P2802T	.	P	-	1	0	CSMD3	113377238	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.059000	0.57470	1.242000	0.43836	0.655000	0.94253	CCT			0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347141.1		NM_052900	Missense_Mutation	T	113308062	G	T	113308062	5	4	137	1	0	0	0	0	0	0	1	0	3948	1101	38	1	2581	1	CSMD3	8	113308062	Splice_Site	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	35540266	113308062	33055960	34	10118											
EEF1D	1936	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	144663434	144663434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttctccacttccagactgGcaatccggacgacgagctca	9	8	10	14	3	2	1	1	0	1	1	5	4	4	2	3	3	1	3	3	3	1	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr8:144663434G>C	ENST00000529272.1	-	4	654	c.254C>G	c.(253-255)gCc>gGc	p.A85G	NAPRT1_ENST00000276844.7_5'Flank|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000317198.6_Missense_Mutation_p.A85G|EEF1D_ENST00000423316.2_Missense_Mutation_p.A451G|EEF1D_ENST00000442189.2_Missense_Mutation_p.A451G|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000532741.1_Missense_Mutation_p.A501G|EEF1D_ENST00000528610.1_Missense_Mutation_p.A61G|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000419152.2_Missense_Mutation_p.A85G|EEF1D_ENST00000524624.1_Missense_Mutation_p.A61G|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Intron|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000395119.3_Missense_Mutation_p.A85G			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	85	Leucine-zipper.				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)			TTCCAGACTGGCAATCCGGAC	0.692																																					p.A451G													.	EEF1D	48		0			c.C1352G												33	31	31					8																	144663434		2203	4296	6499	SO:0001583	missense	1936	exon6			AGACTGGCAATCC	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.254C>G	8.37:g.144663434G>C	ENSP00000434872:p.Ala85Gly		68	0	0		40	0.3	12	NM_001130053	959	0.42	406	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548461	0.65311	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000533749	.	.	.	4.64	4.64	0.57946	.	0.310460	0.34460	N	0.003956	T	0.54240	0.1846	M	0.65975	2.015	0.30636	N	0.75695	P;P;B;P;P	0.44429	0.835;0.735;0.266;0.749;0.783	B;B;B;B;P	0.45829	0.343;0.363;0.092;0.334;0.494	T	0.62746	-0.6789	9	0.52906	T	0.07	.	16.8522	0.85996	0.0:0.0:1.0:0.0	.	451;379;85;501;451	D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;EF1D_HUMAN;.;.	G	85;501;451;61;85;85;451;379;85;451;61;85;61;85;85;85;85;85;101	.	ENSP00000317399:A85G	A	-	2	0	EEF1D	144734577	1.000000	0.71417	0.976000	0.42696	0.468000	0.32798	3.808000	0.55598	2.296000	0.77279	0.542000	0.68232	GCC			0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000382592.2		NM_032378		C	144663434	G	C	144663434	3	2	137	1	0	0	0	0	1	0	0	0	4931	1203	42	5	611	5	EEF1D	8	144663434	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	31355372	144663434	1700588	35	10119											
PLEC	5339	broad.mit.edu	37	chr8	144999684	144999684	+	Frame_Shift_Del	DEL	A	A	-																															agtgcctgcagctccccctcAgccccgccacgctggcgctc																								rs35916068	byFrequency	TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr8:144999684delA	ENST00000322810.4	-	31	4993	c.4824delT	c.(4822-4824)gctfs	p.A1608fs	PLEC_ENST00000354958.2_Frame_Shift_Del_p.A1449fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.A1494fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.A1457fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.A1439fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.A1471fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.A1498fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.A1471fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.A1475fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1608	Central fibrous rod domain.				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						GCTCCCCCTCAGCCCCGCCAC	0.726																																					p.A1608fs													.	PLEC	1144		0			c.4824delT												9	9	9					8																	144999684		1846	3738	5584	SO:0001589	frameshift_variant	5339	exon31			CCCCTCAGCCCCG	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.4824delT	8.37:g.144999684delA	ENSP00000323856:p.Ala1608fs		8	0	0		6	0.33	2	NM_201380	43	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	CCDS43772.1																																																																																					0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		-	144999684	A	-	144999684	7	5	137	1	0	1	0	1	0	0	0	0	12069	175	7	0	9238	0	PLEC	8	144999684	Frame_Shift_Del	DEL	A	TCGA-YU-A94I-01A-11D-A435-10	336250	144999684	1364338	36	10120											
ZNF16	7564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	146156383	146156383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaggtgtagggtttttccCcagtatgaactttctggtgg	7	14	12	8	0	1	1	0	1	1	0	2	1	2	1	2	4	1	3	2	4	3	5			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr8:146156383C>T	ENST00000276816.4	-	4	1976	c.1790G>A	c.(1789-1791)gGg>gAg	p.G597E	ZNF16_ENST00000394909.2_Missense_Mutation_p.G597E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	597					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)		GGGTTTTTCCCCAGTATGAAC	0.488																																					p.G597E													.	.			0			c.G1790A												102	93	96					8																	146156383		2203	4300	6503	SO:0001583	missense	7564	exon3			TTTTCCCCAGTAT	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.1790G>A	8.37:g.146156383C>T	ENSP00000276816:p.Gly597Glu		90	0	0		60	0.48	29	NM_006958	25	0.6	15	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197222	0.58126	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.25749	1.78;1.78	4.0	4.0	0.46444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41673	0.1169	L	0.37561	1.115	0.31681	N	0.643165	D	0.89917	1.0	D	0.97110	1.0	T	0.48234	-0.9053	9	0.66056	D	0.02	.	15.0179	0.71600	0.0:1.0:0.0:0.0	.	597	P17020	ZNF16_HUMAN	E	597	ENSP00000276816:G597E;ENSP00000378369:G597E	ENSP00000276816:G597E	G	-	2	0	ZNF16	146127187	0.869000	0.29996	0.998000	0.56505	0.905000	0.53344	3.250000	0.51445	2.058000	0.61347	0.462000	0.41574	GGG			0.488	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000382978.1		NM_006958		T	146156383	C	T	146156383	3	4	137	1	0	0	0	0	1	0	0	0	17761	623	22	3	262	3	ZNF16	8	146156383	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	1156699	146156383	207639	37	10121											
TLR4	7099	broad.mit.edu	37	chr9	120475855	120475855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaatggctggcaattctttCcaggaaaacttccttccaga	13	11	7	10	0	1	1	0	0	1	1	4	2	4	2	3	3	1	2	3	3	5	4			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr9:120475855C>T	ENST00000355622.6	+	3	1550	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.F443F	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	483					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)	GCAATTCTTTCCAGGAAAACT	0.438																																					p.F483F													TLR4,NS,carcinoma,0,1	TLR4	220	1	0			c.C1449T												84	84	84					9																	120475855		2203	4300	6503	SO:0001819	synonymous_variant	7099	exon3			TTCTTTCCAGGAA	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.1449C>T	9.37:g.120475855C>T			155	0.0451612903	7		101	0.07	7	NM_138554	5	0	0	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	CCDS6818.1																																																																																					0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055549.3		NM_138554		T	120475855	C	T	120475855	2	4	137	1	0	0	0	0	0	0	0	1	15976	854	30	3		3	TLR4	9	120475855	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10		120475855	20737576	38	10122											
PIP5KL1	138429	mdanderson.org	37	chr9	130692122	130692122	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcccccgccggctggAggtgactgctctgcatccag	7	6	14	14	2	1	2	0	1	1	1	2	4	2	3	4	3	3	3	4	3	1	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr9:130692122A>G	ENST00000388747.4	-	2	117	c.73T>C	c.(73-75)Tcc>Ccc	p.S25P	PIP5KL1_ENST00000300432.3_5'Flank|PIP5KL1_ENST00000490773.1_5'Flank	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	25						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CGCCGGCTGGAGGTGACTGCT	0.637																																					p.S25P													.	.			0			c.T73C												7	10	9					9																	130692122		1482	3381	4863	SO:0001583	missense	138429	exon2			GGCTGGAGGTGAC	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.73T>C	9.37:g.130692122A>G	ENSP00000373399:p.Ser25Pro		39	0	0		23	0.09	2	NM_001135219	0		0	Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	37	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598403	0.28445	.	.	ENSG00000167103	ENST00000388747	T	0.48522	0.81	4.99	2.57	0.30868	.	0.465773	0.17214	N	0.182615	T	0.29652	0.0740	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	10	0.49607	T	0.09	-17.9914	5.3717	0.16142	0.7299:0.1769:0.0932:0.0	.	25	Q5T9C9	PI5L1_HUMAN	P	25	ENSP00000373399:S25P	ENSP00000373399:S25P	S	-	1	0	PIP5KL1	129731943	0.000000	0.05858	0.008000	0.14137	0.145000	0.21501	0.290000	0.18975	0.305000	0.22832	0.459000	0.35465	TCC			0.637	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054289.2		NM_173492		G	130692122	A	G	130692122	3	3	137	1	0	0	0	0	1	0	0	0	11959	304	11	4	1147	4	PIP5KL1	9	130692122	Missense_Mutation	SNP	A	TCGA-YU-A94I-01A-11D-A435-10	10216267	130692122	10521309	39	10123											
C9orf173	441476	hgsc.bcm.edu	37	chr9	140145760	140145760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgaattctgaccagaagGcagtgaaattcctggcaaat	14	10	10	7	0	1	5	0	4	1	1	2	5	2	5	2	2	0	2	2	2	4	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr9:140145760G>T	ENST00000412566.1	+	1	31	c.22G>T	c.(22-24)Gca>Tca	p.A8S	C9orf173_ENST00000388931.3_Missense_Mutation_p.A8S			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	8										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						TGACCAGAAGGCAGTGAAATT	0.542																																					p.A8S													.	.			0			c.G22T												120	133	129					9																	140145760		1955	4141	6096	SO:0001583	missense	441476	exon1			CAGAAGGCAGTGA		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.22G>T	9.37:g.140145760G>T	ENSP00000391218:p.Ala8Ser		128	0	0		98	0.04	4	NM_001256701	23	0	0	A2RU24|B7ZM72|B7ZM76|Q8NEA3	Missense_Mutation	SNP	ENST00000412566.1	37	CCDS48065.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066932	0.76301	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.59083	0.29;0.4	4.41	3.49	0.39957	.	0.000000	0.33515	N	0.004835	T	0.57460	0.2055	L	0.48642	1.525	0.30602	N	0.760379	B;D;D;P	0.60160	0.192;0.987;0.987;0.93	B;P;P;P	0.50405	0.078;0.64;0.64;0.489	T	0.63225	-0.6685	10	0.87932	D	0	-10.7761	11.2392	0.48960	0.0:0.0:0.8155:0.1845	.	8;8;8;8	B7ZM74;Q8N7X2-3;Q8N7X2-2;Q8N7X2-4	.;.;.;.	S	8	ENSP00000373583:A8S;ENSP00000391218:A8S	ENSP00000373583:A8S	A	+	1	0	C9orf173	139265581	0.977000	0.34250	0.990000	0.47175	0.867000	0.49689	0.923000	0.28757	1.031000	0.39867	0.555000	0.69702	GCA			0.542	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001004353		T	140145760	G	T	140145760	3	4	137	1	0	0	0	0	1	0	0	0	2474	1203	42	2	24	2	C9orf173	9	140145760	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	9453638	140145760	1067671	40	10124											
LARP4B	23185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	859126	859126	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactcgttctctgacaaaTctctgcgtagctgggctttc	6	16	8	11	2	2	1	0	1	2	0	6	1	2	1	0	1	3	4	0	1	3	5			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr10:859126T>A	ENST00000316157.3	-	17	1997	c.1957A>T	c.(1957-1959)Att>Ttt	p.I653F	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	653					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTCTGACAAATCTCTGCGTAG	0.463																																					p.I653F													.	.			0			c.A1957T												86	85	85					10																	859126		2203	4300	6503	SO:0001583	missense	23185	exon18			GACAAATCTCTGC	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1957A>T	10.37:g.859126T>A	ENSP00000326128:p.Ile653Phe		140	0	0		145	0.44	64	NM_015155	228	0.59	134	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.197147|5.197147	0.94960|0.94960	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000448368|ENST00000316157	.|T	.|0.38401	.|1.14	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50973|0.50973	0.1647|0.1647	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.76575	.|0.988	T|T	0.52719|0.52719	-0.8538|-0.8538	5|10	.|0.87932	.|D	.|0	.|.	16.6288|16.6288	0.85011|0.85011	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|653	.|Q92615	.|LAR4B_HUMAN	V|F	253|653	.|ENSP00000326128:I653F	.|ENSP00000326128:I653F	D|I	-|-	2|1	0|0	LARP4B|LARP4B	849126|849126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.792000|6.792000	0.75125|0.75125	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAT|ATT			0.463	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046395.2		NM_015155		A	859126	T	A	859126	3	1	137	1	0	0	0	0	1	0	0	0	8646	1435	50	5	263	5	LARP4B	10	859126	Missense_Mutation	SNP	T	TCGA-YU-A94I-01A-11D-A435-10		859126	134675621	41	10125											
C10orf140	387640	broad.mit.edu	37	chr10	21805483	21805483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccctcctcctcctcttcCtcctcctcctcctctccctc	0	13	0	28	0	2	0	0	0	2	0	12	0	10	0	12	0	0	0	12	0	0	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr10:21805483C>T	ENST00000449193.2	-	4	3521	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	SKIDA1_ENST00000444772.3_Silent_p.E344E|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	342						nucleus (GO:0005634)											cctcctcttcctcctcctcct	0.627																																					p.E423E													.	.			0			c.G1269A												5	6	6					10																	21805483		2007	4123	6130	SO:0001819	synonymous_variant	387640	exon4			CTCTTCCTCCTCC	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.1269G>A	10.37:g.21805483C>T			36	0	0		40	0.1	4	NM_207371	32	0	0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.627	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371		T	21805483	C	T	21805483	2	4	137	1	0	0	0	0	0	0	0	1	1597	680	24	3		3	C10orf140	10	21805483	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	20946357	21805483	113729264	42	10126											
HERC4	26091	mdanderson.org	37	chr10	69699401	69699401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggataatccagtaactGttgcatgcttctgcaaaata	12	14	7	8	0	2	0	0	0	2	0	3	1	3	1	1	1	4	5	1	1	5	6			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr10:69699401G>T	ENST00000395198.3	-	22	2786	c.2539C>A	c.(2539-2541)Cag>Aag	p.Q847K	HERC4_ENST00000277817.6_Missense_Mutation_p.Q737K|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000373700.4_Missense_Mutation_p.Q839K|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	847	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCCAGTAACTGTTGCATGCTT	0.284																																					p.Q847K													.	.			0			c.C2539A												118	114	115					10																	69699401		2202	4298	6500	SO:0001583	missense	26091	exon22			GTAACTGTTGCAT	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2539C>A	10.37:g.69699401G>T	ENSP00000378624:p.Gln847Lys		90	0	0		109	0.05	5	NM_022079	45	0	0	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806798	0.50421	.	.	ENSG00000148634	ENST00000277817;ENST00000395198;ENST00000373700	T;T;T	0.56941	0.43;0.43;0.43	5.37	5.37	0.77165	HECT (4);	0.112392	0.64402	D	0.000011	T	0.48624	0.1510	L	0.31804	0.96	0.80722	D	1	B;B;B;B	0.32467	0.321;0.372;0.321;0.372	B;B;B;B	0.39771	0.205;0.309;0.138;0.216	T	0.36383	-0.9750	10	0.22109	T	0.4	.	19.0918	0.93229	0.0:0.0:1.0:0.0	.	737;697;839;847	Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;HERC4_HUMAN	K	737;847;839	ENSP00000277817:Q737K;ENSP00000378624:Q847K;ENSP00000362804:Q839K	ENSP00000277817:Q737K	Q	-	1	0	HERC4	69369407	1.000000	0.71417	0.235000	0.24058	0.968000	0.65278	4.451000	0.60047	2.506000	0.84524	0.591000	0.81541	CAG			0.284	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359262.1		NM_015601		T	69699401	G	T	69699401	3	4	137	1	0	0	0	0	1	0	0	0	7075	1386	48	3	654	3	HERC4	10	69699401	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	47893918	69699401	65835346	43	10127											
CDHR5	53841	broad.mit.edu	37	chr11	617401	617402	+	Frame_Shift_Ins	INS	-	-	C																															tcgtagggacccccacccctINSccccgcgccctcgccctcat																										TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:617401_617402insC	ENST00000358353.3	-	16	2809_2810	c.2487_2488insG	c.(2485-2490)gggaggfs	p.R830fs	CDHR5_ENST00000349570.7_Frame_Shift_Ins_p.R636fs|CDHR5_ENST00000397542.2_Frame_Shift_Ins_p.R830fs|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397562.3_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	830					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCCCCACCCCTCCCCGCGCCCT	0.693																																					p.R830fs													.	CDHR5	77		0			c.2488_2489insG																																									SO:0001589	frameshift_variant	53841	exon15			CACCCCTCCCCGC	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2488dupG	11.37:g.617405_617405dupC	ENSP00000351118:p.Arg830fs		80	0	0		83	0.07	6	NM_021924	9	0	0	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Ins	INS	ENST00000358353.3	37	CCDS7707.1																																																																																					0.693	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255023.2		NM_021924		C	617402	-	C	617401	7	5	137	1	0	1	1	0	0	0	0	0	3124	1550	54	0	53	0	CDHR5	11	617401	Frame_Shift_Ins	INS	-	TCGA-YU-A94I-01A-11D-A435-10		617401	134389115	44	10128											
MUC2	4583	mdanderson.org	37	chr11	1092971	1092971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacggtgaccccaaccccaaCacccaccggcacacagaccc	12	2	6	21	2	0	2	0	1	0	1	0	2	0	2	7	2	3	1	7	2	3	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:1092971C>T	ENST00000441003.2	+	30	4817	c.4790C>T	c.(4789-4791)aCa>aTa	p.T1597I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccaaccccaacacccaccggc	0.632																																					p.T1597I													MUC2_ENST00000441003,NS,carcinoma,0,1	MUC2_ENST00000441003	0	1	0			c.C4790T												47	82	70					11																	1092971		1782	3233	5015	SO:0001583	missense	4583	exon30			CCCCAACACCCAC	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.4790C>T	11.37:g.1092971C>T	ENSP00000415183:p.Thr1597Ile		34	0.0588235294	2		25	0.08	2	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.395	-0.338980	0.05243	.	.	ENSG00000198788	ENST00000441003	T	0.14640	2.49	1.75	0.762	0.18454	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.41520	-0.9504	8	0.22109	T	0.4	.	4.3366	0.11089	0.0:0.6142:0.0:0.3858	.	1597	E7EUV1	.	I	1597	ENSP00000415183:T1597I	ENSP00000415183:T1597I	T	+	2	0	MUC2	1082971	0.029000	0.19370	0.001000	0.08648	0.134000	0.20937	1.107000	0.31110	0.104000	0.17725	0.121000	0.15741	ACA			0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457		T	1092971	C	T	1092971	3	4	137	1	0	0	0	0	1	0	0	0	9991	478	17	3	4908	3	MUC2	11	1092971	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	475570	1092971	133913545	45	10129											
DCHS1	8642	broad.mit.edu	37	chr11	6662633	6662633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatgagaggagctgccgtgCctgccggaagccccgcactg	8	5	14	14	3	0	1	0	1	0	1	0	4	0	3	5	2	5	2	5	2	1	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:6662633C>T	ENST00000299441.3	-	2	623	c.212G>A	c.(211-213)gGc>gAc	p.G71D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	71	Cadherin 1. {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)		AGCTGCCGTGCCTGCCGGAAG	0.632																																					p.G71D													.	DCHS1	277		0			c.G212A												29	28	29					11																	6662633		2201	4296	6497	SO:0001583	missense	8642	exon2			GCCGTGCCTGCCG	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.212G>A	11.37:g.6662633C>T	ENSP00000299441:p.Gly71Asp		48	0	0		49	0.06	3	NM_003737	14	0	0	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501178	0.26861	.	.	ENSG00000166341	ENST00000299441	T	0.49139	0.79	5.41	4.3	0.51218	Cadherin (3);Cadherin-like (1);	0.140000	0.32884	N	0.005527	T	0.62036	0.2395	L	0.55743	1.74	0.49389	D	0.999783	D	0.89917	1.0	D	0.87578	0.998	T	0.62637	-0.6812	10	0.54805	T	0.06	.	12.923	0.58243	0.0:0.8633:0.0:0.1367	.	71	Q96JQ0	PCD16_HUMAN	D	71	ENSP00000299441:G71D	ENSP00000299441:G71D	G	-	2	0	DCHS1	6619209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.949000	0.56668	2.536000	0.85505	0.643000	0.83706	GGC			0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257258.1		NM_003737		T	6662633	C	T	6662633	3	4	137	1	0	0	0	0	1	0	0	0	4289	739	26	2	9764	2	DCHS1	11	6662633	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	5569662	6662633	128343883	46	10130											
TPH1	7166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	18057536	18057536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtaaaattatctggtaGattcacagagagaacattgg	17	10	9	5	0	2	3	1	0	1	3	2	4	2	3	0	2	1	2	0	2	6	5			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:18057536G>T	ENST00000250018.2	-	2	833	c.271C>A	c.(271-273)Cta>Ata	p.L91I	TPH1_ENST00000341556.2_Missense_Mutation_p.L91I	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	91	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.			NL -> TP (in Ref. 2; AAA67050). {ECO:0000305}.	aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|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)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTATCTGGTAGATTCACAGAG	0.328																																					p.L91I													TPH1,NS,carcinoma,+2,1	TPH1	2	1	0			c.C271A												80	80	80					11																	18057536		2200	4293	6493	SO:0001583	missense	7166	exon2			CTGGTAGATTCAC	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.271C>A	11.37:g.18057536G>T	ENSP00000250018:p.Leu91Ile		115	0	0		94	0.3	28	NM_004179	2	0.5	1	D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967678	0.34754	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99722	-6.14;-6.15;-6.53	5.51	1.28	0.21552	.	0.316417	0.39210	N	0.001437	D	0.96926	0.8996	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.08055	0.003	D	0.95302	0.8404	10	0.21014	T	0.42	-8.0E-4	7.1395	0.25548	0.1384:0.0:0.607:0.2546	.	91	P17752	TPH1_HUMAN	I	91;91;101	ENSP00000250018:L91I;ENSP00000343550:L91I;ENSP00000436081:L101I	ENSP00000250018:L91I	L	-	1	2	TPH1	18014112	1.000000	0.71417	0.966000	0.40874	0.973000	0.67179	2.909000	0.48758	0.309000	0.22966	0.655000	0.94253	CTA			0.328	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389696.1		NM_004179		T	18057536	G	T	18057536	3	4	137	1	0	0	0	0	1	0	0	0	16425	933	33	3	1099	3	TPH1	11	18057536	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	11394903	18057536	116948980	47	10131											
TPH1	7166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	18057614	18057614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctgttgatgtcacagtCaacaaaaatctcaaattctg	13	14	5	9	0	5	1	3	1	3	0	7	1	5	1	0	0	1	1	0	0	4	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:18057614C>G	ENST00000250018.2	-	2	755	c.193G>C	c.(193-195)Gac>Cac	p.D65H	TPH1_ENST00000341556.2_Missense_Mutation_p.D65H	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	65	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|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)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ATGTCACAGTCAACAAAAATC	0.343																																					p.D65H													.	.			0			c.G193C												114	108	110					11																	18057614		2200	4293	6493	SO:0001583	missense	7166	exon2			CACAGTCAACAAA	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.193G>C	11.37:g.18057614C>G	ENSP00000250018:p.Asp65His		134	0	0		123	0.26	32	NM_004179	1	0	0	D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756961	0.89843	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.98968	-5.28;-5.28;-5.28	5.51	5.51	0.81932	Amino acid-binding ACT (1);	0.000000	0.85682	D	0.000000	D	0.99278	0.9748	H	0.97390	3.995	0.80722	D	1	B	0.26147	0.143	B	0.41946	0.371	D	0.98962	1.0798	10	0.54805	T	0.06	-24.1041	19.7758	0.96391	0.0:1.0:0.0:0.0	.	65	P17752	TPH1_HUMAN	H	65;65;75	ENSP00000250018:D65H;ENSP00000343550:D65H;ENSP00000436081:D75H	ENSP00000250018:D65H	D	-	1	0	TPH1	18014190	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.741000	0.84997	2.752000	0.94435	0.655000	0.94253	GAC			0.343	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389696.1		NM_004179		G	18057614	C	G	18057614	3	3	137	1	0	0	0	0	1	0	0	0	16425	826	29	5	1177	5	TPH1	11	18057614	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	78	18057614	116948902	48	10132											
SLC43A1	8501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57281542	57281542	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagccgtgcaggccaTccaccagcgcctccggtacg	8	4	11	18	4	0	0	0	0	0	0	2	0	2	0	6	2	5	3	6	2	1	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:57281542T>A	ENST00000278426.3	-	2	398	c.43A>T	c.(43-45)Atg>Ttg	p.M15L	SLC43A1_ENST00000528450.1_Missense_Mutation_p.M15L	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTGCAGGCCATCCACCAGCGC	0.637																																					p.M15L													.	.			0			c.A43T												29	27	28					11																	57281542		2198	4296	6494	SO:0001583	missense	8501	exon2			AGGCCATCCACCA	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.43A>T	11.37:g.57281542T>A	ENSP00000278426:p.Met15Leu		45	0	0		33	0.39	13	NM_001198810	13	0.23	3		Missense_Mutation	SNP	ENST00000278426.3	37	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429892	0.62844	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066;ENST00000533263	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.36	5.36	0.76844	Major facilitator superfamily domain, general substrate transporter (1);	0.077674	0.85682	D	0.000000	T	0.29126	0.0724	L	0.48260	1.515	0.49798	D	0.999821	B	0.16166	0.016	B	0.16722	0.016	T	0.11717	-1.0576	10	0.02654	T	1	-32.8948	14.3357	0.66589	0.0:0.0:0.0:1.0	.	15	O75387	LAT3_HUMAN	L	15	ENSP00000278426:M15L;ENSP00000435673:M15L;ENSP00000435647:M15L;ENSP00000435486:M15L	ENSP00000278426:M15L	M	-	1	0	SLC43A1	57038118	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.829000	0.69316	2.039000	0.60335	0.528000	0.53228	ATG			0.637	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392541.1		NM_003627		A	57281542	T	A	57281542	3	1	137	1	0	0	0	0	1	0	0	0	14655	1435	50	5	1692	5	SLC43A1	11	57281542	Missense_Mutation	SNP	T	TCGA-YU-A94I-01A-11D-A435-10	39223928	57281542	77724974	49	10133											
SYVN1	84447	mdanderson.org	37	chr11	64897841	64897841	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggaaaaggaggcaggagGccctgggggactgcagagag	12	2	21	6	0	0	1	0	0	0	1	0	7	0	6	1	8	1	2	1	8	2	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:64897841G>T	ENST00000377190.3	-	12	1210	c.1116C>A	c.(1114-1116)ggC>ggA	p.G372G	SYVN1_ENST00000294256.8_Silent_p.G372G|SYVN1_ENST00000526060.1_Silent_p.G372G|SYVN1_ENST00000307289.6_Silent_p.G321G|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	372	Pro-rich.				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)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GAGGCAGGAGGCCCTGGGGGA	0.637																																					p.G372G													.	.			0			c.C1116A												32	33	32					11																	64897841		2196	4296	6492	SO:0001819	synonymous_variant	84447	exon12			CAGGAGGCCCTGG	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1116C>A	11.37:g.64897841G>T			57	0	0		52	0.06	3	NM_032431	65	0	0	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	CCDS31605.1																																																																																					0.637	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000385274.1		NM_032431		T	64897841	G	T	64897841	2	4	137	1	0	0	0	0	0	0	0	1	15510	1190	42	2		2	SYVN1	11	64897841	Silent	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	7616299	64897841	70108675	50	10134											
DPP3	10072	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr11	66260275	66260275	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgaaggagctgccctgGcccccaacctttgagaagga	9	7	12	13	0	0	2	0	2	0	1	0	5	0	4	4	3	4	2	4	3	3	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:66260275G>A	ENST00000360510.2	+	10	1142	c.1077G>A	c.(1075-1077)tgG>tgA	p.W359*	DPP3_ENST00000541961.1_Nonsense_Mutation_p.W359*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.W329*|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Nonsense_Mutation_p.W379*|DPP3_ENST00000453114.1_Nonsense_Mutation_p.W359*|DPP3_ENST00000532677.1_Nonsense_Mutation_p.W378*			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	359					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						AGCTGCCCTGGCCCCCAACCT	0.602																																					p.W359X													.	DPP3	61		0			c.G1077A												89	87	87					11																	66260275		2200	4295	6495	SO:0001587	stop_gained	10072	exon10			GCCCTGGCCCCCA	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.1077G>A	11.37:g.66260275G>A	ENSP00000353701:p.Trp359*		110	0.0090909091	1		107	0.76	81	NM_130443	84	0.19	16	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Nonsense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547048	0.96488	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	.	.	.	5.41	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2503	0.60048	0.0:0.0:0.8399:0.1601	.	.	.	.	X	379;378;359;359;359;329;257	.	ENSP00000353701:W359X	W	+	3	0	DPP3	66016851	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.175000	0.77632	1.263000	0.44181	-0.181000	0.13052	TGG			0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393424.2				A	66260275	G	A	66260275	4	1	137	1	0	0	0	0	0	1	0	0	4733	1212	42	2	1111	2	DPP3	11	66260275	Nonsense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	1362434	66260275	68746241	51	10135											
CCDC87	55231	mdanderson.org	37	chr11	66358257	66358257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttgggattggaagcttGtccctcaaaccactctagtc	8	11	11	11	1	2	0	1	0	1	0	4	2	3	2	2	3	2	2	2	3	3	4			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:66358257G>T	ENST00000333861.3	-	1	2297	c.2230C>A	c.(2230-2232)Caa>Aaa	p.Q744K	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	744					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTGGAAGCTTGTCCCTCAAAC	0.557																																					p.Q744K													.	.			0			c.C2230A												113	121	119					11																	66358257		2200	4295	6495	SO:0001583	missense	55231	exon1			AAGCTTGTCCCTC	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2230C>A	11.37:g.66358257G>T	ENSP00000328487:p.Gln744Lys		50	0	0		40	0.08	3	NM_018219	4	0	0	Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	8.736	0.917836	0.17982	.	.	ENSG00000182791	ENST00000333861	T	0.24538	1.85	5.07	4.12	0.48240	.	0.533887	0.15773	N	0.245348	T	0.23572	0.0570	L	0.60455	1.87	0.09310	N	0.999991	P	0.38300	0.626	B	0.33846	0.171	T	0.13388	-1.0511	10	0.40728	T	0.16	-0.4269	10.5814	0.45257	0.0:0.2111:0.7889:0.0	.	744	Q9NVE4	CCD87_HUMAN	K	744	ENSP00000328487:Q744K	ENSP00000328487:Q744K	Q	-	1	0	CCDC87	66114833	0.082000	0.21442	0.255000	0.24374	0.300000	0.27592	1.394000	0.34509	2.639000	0.89480	0.561000	0.74099	CAA			0.557	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393825.1		NM_018219		T	66358257	G	T	66358257	3	4	137	1	0	0	0	0	1	0	0	0	2864	1386	48	3	323	3	CCDC87	11	66358257	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	97982	66358257	68648259	52	10136											
TSKU	25987	mdanderson.org	37	chr11	76506691	76506691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctgctgctgctggccGtgagtggggcccagacaacc	5	7	14	15	1	0	2	0	1	0	1	0	2	0	2	4	3	5	4	4	3	1	0	rs202220235		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:76506691G>T	ENST00000527881.1	+	2	1057	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	TSKU_ENST00000333090.4_Missense_Mutation_p.V11L			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	11					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCTGCTGGCCGTGAGTGGGGC	0.617																																					p.V11L													.	.			0			c.G31T												35	40	39					11																	76506691		2200	4291	6491	SO:0001583	missense	25987	exon2			CTGGCCGTGAGTG	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"leucine rich repeat containing 54", "tsukushin", "tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.31G>T	11.37:g.76506691G>T	ENSP00000434847:p.Val11Leu		45	0	0		48	0.06	3	NM_015516	235	0	0	B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	G	4.876	0.162887	0.09287	.	.	ENSG00000182704	ENST00000533752;ENST00000333090;ENST00000439807;ENST00000525167;ENST00000527881	T;T;T	0.50277	0.75;1.59;1.59	5.14	-1.92	0.07618	.	1.197050	0.05863	N	0.623343	T	0.19725	0.0474	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12553	-1.0543	10	0.30078	T	0.28	-0.9982	1.5851	0.02642	0.2245:0.2821:0.3334:0.16	.	11	Q8WUA8	TSK_HUMAN	L	11	ENSP00000435133:V11L;ENSP00000332668:V11L;ENSP00000434847:V11L	ENSP00000332668:V11L	V	+	1	0	TSKU	76184339	0.000000	0.05858	0.012000	0.15200	0.480000	0.33159	-1.616000	0.02053	-0.049000	0.13379	-0.137000	0.14449	GTG			0.617	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382871.1		NM_015516		T	76506691	G	T	76506691	3	4	137	1	0	0	0	0	1	0	0	0	16651	1145	40	1	33	1	TSKU	11	76506691	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	10148434	76506691	58499825	53	10137											
ROBO3	64221	mdanderson.org	37	chr11	124745971	124745971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgaaccctggtcgcggcggCcaccagcgcaggcgtgggcg	5	4	17	15	7	0	0	0	0	0	0	2	1	0	0	3	5	2	1	3	5	1	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr11:124745971C>T	ENST00000397801.1	+	16	2735	c.2543C>T	c.(2542-2544)gCc>gTc	p.A848V	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Missense_Mutation_p.A826V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	848	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTCGCGGCGGCCACCAGCGCA	0.682											OREG0021467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A848V													.	.			0			c.C2543T												17	19	18					11																	124745971		1947	4138	6085	SO:0001583	missense	64221	exon16			CGGCGGCCACCAG	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2543C>T	11.37:g.124745971C>T	ENSP00000380903:p.Ala848Val		58	0	0	1536	47	0.06	3	NM_022370	11	0	0		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218079	0.58560	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.48522	0.81;0.81	5.09	4.18	0.49190	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000962	T	0.29620	0.0739	N	0.10760	0.04	0.80722	D	1	B	0.24963	0.115	B	0.37091	0.241	T	0.08391	-1.0724	10	0.17832	T	0.49	.	8.8332	0.35096	0.0:0.7688:0.1503:0.0809	.	848	Q96MS0	ROBO3_HUMAN	V	848;826	ENSP00000380903:A848V;ENSP00000441797:A826V	ENSP00000380903:A848V	A	+	2	0	ROBO3	124251181	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	1.976000	0.40579	1.127000	0.42034	0.563000	0.77884	GCC			0.682	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387091.1		XM_370663		T	124745971	C	T	124745971	3	4	137	1	0	0	0	0	1	0	0	0	13538	739	26	2	2605	2	ROBO3	11	124745971	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	48239280	124745971	10260545	54	10138											
GPR162	27239	broad.mit.edu	37	chr12	6933730	6933730	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggagagtggggggtggTggggggaccaaagcgggtgg	6	4	25	6	2	0	1	0	0	0	1	0	3	0	2	2	10	1	0	2	10	1	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr12:6933730T>G	ENST00000311268.3	+	2	1453	c.666T>G	c.(664-666)ggT>ggG	p.G222G	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGGGGGTGGTGGGGGGACCA	0.677																																					p.G222G													.	GPR162	55		0			c.T666G												25	31	29					12																	6933730		2202	4298	6500	SO:0001819	synonymous_variant	27239	exon2			GGGTGGTGGGGGG	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.666T>G	12.37:g.6933730T>G			63	0.0952380952	6		83	0.16	13	NM_019858	2	0	0	Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	CCDS8563.1																																																																																					0.677	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399478.1		NM_019858		G	6933730	T	G	6933730	2	3	137	1	0	0	0	0	0	0	0	1	6680	1683	59	4		4	GPR162	12	6933730	Silent	SNP	T	TCGA-YU-A94I-01A-11D-A435-10		6933730	126918165	55	10139											
EIF4B	1975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	53410339	53410339	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactggtggaggaagcacCtatgtttccaaaccagtcag	11	9	12	9	0	1	0	1	0	0	0	2	2	2	2	3	4	3	3	3	4	4	3	rs373400973		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr12:53410339C>G	ENST00000262056.9	+	2	422	c.96C>G	c.(94-96)acC>acG	p.T32T	EIF4B_ENST00000551527.1_3'UTR|RP11-983P16.2_ENST00000435621.3_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Silent_p.T32T|EIF4B_ENST00000416762.3_Silent_p.T32T|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	32					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|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 translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGGAAGCACCTATGTTTCCA	0.423																																					p.T32T													.	.			0			c.C96G							C		0,3688		0,0,1844	122	117	119		96	3.8	1	12		119	1,8173		0,1,4086	no	coding-synonymous	EIF4B	NM_001417.4		0,1,5930	GG,GC,CC		0.0122,0.0,0.0084		32/612	53410339	1,11861	1844	4087	5931	SO:0001819	synonymous_variant	1975	exon2			AAGCACCTATGTT	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.96C>G	12.37:g.53410339C>G			60	0	0		75	0.23	17	NM_001417	410	0.3	124	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP	ENST00000262056.9	37	CCDS41788.1																																																																																					0.423	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000404852.2		NM_001417		G	53410339	C	G	53410339	2	3	137	1	0	0	0	0	0	0	0	1	5034	668	24	5		5	EIF4B	12	53410339	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	46476609	53410339	80441556	56	10140											
PA2G4	5036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56505268	56505268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgttttccaggccctcctCcagagttctgcaagtcgaaa	8	11	8	14	1	1	1	0	0	1	1	5	2	4	1	5	1	1	3	5	1	2	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr12:56505268C>T	ENST00000303305.6	+	12	1493	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	358	Necessary for nucleolar localization.				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)			AGGCCCTCCTCCAGAGTTCTG	0.403																																					p.L358L													.	.			0			c.C1074T												104	108	107					12																	56505268		2201	4299	6500	SO:0001819	synonymous_variant	5036	exon12			CCTCCTCCAGAGT	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.1074C>T	12.37:g.56505268C>T			226	0	0		214	0.3	64	NM_006191	664	0.3	196	O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	CCDS8902.1																																																																																					0.403	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407767.1		NM_006191		T	56505268	C	T	56505268	2	4	137	1	0	0	0	0	0	0	0	1	11378	842	30	3		3	PA2G4	12	56505268	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	3094929	56505268	77346627	57	10141											
SYCP3	50511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	102125386	102125386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtttaattgttttcaatCtctggctctgaacaattcta	10	18	5	8	0	4	1	1	1	3	0	5	1	4	1	0	1	1	3	0	1	5	7			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr12:102125386C>T	ENST00000392927.3	-	7	643	c.512G>A	c.(511-513)aGa>aAa	p.R171K	SYCP3_ENST00000266743.2_Missense_Mutation_p.R171K|SYCP3_ENST00000392924.1_Missense_Mutation_p.R171K	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	171	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TGTTTTCAATCTCTGGCTCTG	0.279																																					p.R171K													.	.			0			c.G512A												59	59	59					12																	102125386		2201	4270	6471	SO:0001583	missense	50511	exon7			TTCAATCTCTGGC	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.512G>A	12.37:g.102125386C>T	ENSP00000376658:p.Arg171Lys		74	0	0		55	0.29	16	NM_001177949	0		0		Missense_Mutation	SNP	ENST00000392927.3	37	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622527	0.46840	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	4.56	3.64	0.41730	.	0.106561	0.64402	D	0.000005	T	0.47728	0.1461	L	0.55103	1.725	0.33847	D	0.632106	P	0.35575	0.51	B	0.36030	0.216	T	0.58736	-0.7584	9	0.22109	T	0.4	-7.0642	14.7446	0.69480	0.0:0.8543:0.1457:0.0	.	171	Q8IZU3	SYCP3_HUMAN	K	171	.	ENSP00000266743:R171K	R	-	2	0	SYCP3	100649517	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.258000	0.51507	1.210000	0.43336	0.305000	0.20034	AGA			0.279	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316478.2		NM_153694		T	102125386	C	T	102125386	3	4	137	1	0	0	0	0	1	0	0	0	15457	913	32	3	210	3	SYCP3	12	102125386	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	45620118	102125386	31726509	58	10142											
FRY	10129	mdanderson.org	37	chr13	32776178	32776178	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccatgcagctcatgcagGcacgtatcatttactggcat	9	12	8	12	1	3	0	2	0	1	0	4	0	3	0	1	2	4	6	1	2	2	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr13:32776178G>T	ENST00000380250.3	+	30	4342		c.e30+1			NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)							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)		GCTCATGCAGGCACGTATCAT	0.378																																					.													.	.			0			c.3846+1G>T												118	104	108					13																	32776178		1895	4114	6009	SO:0001630	splice_region_variant	10129	exon30			ATGCAGGCACGTA	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.3846+1G>T	13.37:g.32776178G>T			72	0	0		49	0.06	3	NM_023037	0		0	Q9Y3N6	Splice_Site	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221466	0.79464	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRY	31674178	1.000000	0.71417	0.996000	0.52242	0.674000	0.39518	9.759000	0.98931	2.745000	0.94114	0.650000	0.86243	.			0.378	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044405.1		NM_023037	Intron	T	32776178	G	T	32776178	5	4	137	1	0	0	0	0	0	0	1	0	6076	1217	42	2	3965	2	FRY	13	32776178	Splice_Site	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		32776178	82393700	59	10143											
TFDP1	7027	mdanderson.org	37	chr13	114294482	114294482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggccacaagctccaatgGgtctcagtacagcggctcca	9	7	11	14	1	1	0	1	0	1	0	4	0	3	0	3	3	3	4	3	3	3	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr13:114294482G>C	ENST00000375370.5	+	12	1345	c.1133G>C	c.(1132-1134)gGg>gCg	p.G378A	TFDP1_ENST00000538138.1_Missense_Mutation_p.G279A|TFDP1_ENST00000544902.1_Missense_Mutation_p.G349A	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	378					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|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 coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	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;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AGCTCCAATGGGTCTCAGTAC	0.632										TSP Lung(29;0.18)																											p.G378A													.	.			0			c.G1133C												92	87	89					13																	114294482		2203	4300	6503	SO:0001583	missense	7027	exon12			CCAATGGGTCTCA	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1133G>C	13.37:g.114294482G>C	ENSP00000364519:p.Gly378Ala		57	0	0		24	0.08	2	NM_007111	388	0	0	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754516	0.31046	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.46063	0.99;2.04;0.88	3.95	3.95	0.45737	.	0.158159	0.56097	N	0.000028	T	0.25717	0.0626	N	0.19112	0.55	0.25676	N	0.985841	B;B;B	0.25441	0.126;0.003;0.005	B;B;B	0.22386	0.039;0.004;0.007	T	0.10337	-1.0634	10	0.05959	T	0.93	.	16.3301	0.83006	0.0:0.0:1.0:0.0	.	349;279;378	F5H452;B4DLQ9;Q14186	.;.;TFDP1_HUMAN	A	279;378;349	ENSP00000443878:G279A;ENSP00000364519:G378A;ENSP00000438450:G349A	ENSP00000364519:G378A	G	+	2	0	TFDP1	113342483	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.414000	0.66405	1.910000	0.55303	0.491000	0.48974	GGG			0.632	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045918.3		NM_007111		C	114294482	G	C	114294482	3	2	137	1	0	0	0	0	1	0	0	0	15820	1232	43	5	1175	5	TFDP1	13	114294482	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	81518304	114294482	875396	60	10144											
HECTD1	25831	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr14	31576895	31576897	+	In_Frame_Del	DEL	CTC	CTC	-																															tcccaagccagttccttcttCtcctaaaaattcaacctaaa																										TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	CTC	CTC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr14:31576895_31576897delCTC	ENST00000399332.1	-	37	6982_6984	c.6494_6496delGAG	c.(6493-6498)ggagaa>gaa	p.G2165del	HECTD1_ENST00000553700.1_In_Frame_Del_p.G2165del	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2165	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTCCTTCTTCTCCTAAAAATTC	0.345																																					p.2165_2166del													.	HECTD1	159		0			c.6495_6497del																																									SO:0001651	inframe_deletion	25831	exon37			CTTCTTCTCCTAA	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6494_6496delGAG	14.37:g.31576895_31576897delCTC	ENSP00000382269:p.Gly2165del		120	0	0		78	0.22	17	NM_015382	103	0	0	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	In_Frame_Del	DEL	ENST00000399332.1	37	CCDS41939.1																																																																																					0.345	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000409942.1				-	31576897	CTC	-	31576895	7	5	137	1	0	1	0	1	0	0	0	0	7054	922	32	0	1364	0	HECTD1	14	31576895	In_Frame_Del	DEL	CTC	TCGA-YU-A94I-01A-11D-A435-10		31576895	75772645	61	10145											
SIX4	51804	mdanderson.org	37	chr14	61190366	61190366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggctctcgttgccacGtagcaggtcgctctggggca	6	8	14	13	3	2	0	0	0	2	0	4	0	2	0	1	4	3	7	1	4	1	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr14:61190366G>T	ENST00000216513.4	-	1	486	c.427C>A	c.(427-429)Cgt>Agt	p.R143S		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	143					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TCGTTGCCACGTAGCAGGTCG	0.687																																					p.R143S													.	.			0			c.C427A												9	9	9					14																	61190366		2179	4268	6447	SO:0001583	missense	51804	exon1			TGCCACGTAGCAG	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.427C>A	14.37:g.61190366G>T	ENSP00000216513:p.Arg143Ser		69	0	0		49	0.06	3	NM_017420	0		0	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213624	0.79352	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.91180	-2.8	3.48	3.48	0.39840	.	0.393903	0.29940	N	0.010817	D	0.82783	0.5112	N	0.12920	0.275	0.80722	D	1	B;P	0.34815	0.047;0.47	B;B	0.34242	0.135;0.178	D	0.84516	0.0625	10	0.56958	D	0.05	.	15.1462	0.72653	0.0:0.0:1.0:0.0	.	135;143	G3V2N2;Q9UIU6	.;SIX4_HUMAN	S	143;135	ENSP00000216513:R143S	ENSP00000216513:R143S	R	-	1	0	SIX4	60260119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.500000	0.81588	1.769000	0.52152	0.650000	0.86243	CGT			0.687	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000072397.2				T	61190366	G	T	61190366	3	4	137	1	0	0	0	0	1	0	0	0	14372	1145	40	1	1930	1	SIX4	14	61190366	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	29613471	61190366	46159174	62	10146											
C14orf159	80017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	91642295	91642295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaactgttgggaatcaaaGagctttccaaacctgcctac	13	9	8	11	0	1	2	1	0	0	2	2	3	2	3	3	1	5	2	3	1	5	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr14:91642295G>A	ENST00000523771.1	+	7	1213	c.610G>A	c.(610-612)Gag>Aag	p.E204K	C14orf159_ENST00000256324.10_Missense_Mutation_p.E209K|C14orf159_ENST00000521077.2_Missense_Mutation_p.E209K|C14orf159_ENST00000428926.2_Missense_Mutation_p.E204K|C14orf159_ENST00000522322.1_Missense_Mutation_p.E204K|C14orf159_ENST00000525393.2_Missense_Mutation_p.E80K|C14orf159_ENST00000520328.1_Missense_Mutation_p.E192K|C14orf159_ENST00000523816.1_Missense_Mutation_p.E204K|C14orf159_ENST00000412671.2_Missense_Mutation_p.E209K|C14orf159_ENST00000518868.1_Missense_Mutation_p.E209K			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	204						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GGGAATCAAAGAGCTTTCCAA	0.502																																					p.E209K													.	.			0			c.G625A												107	100	103					14																	91642295		2203	4300	6503	SO:0001583	missense	80017	exon7			ATCAAAGAGCTTT	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.610G>A	14.37:g.91642295G>A	ENSP00000429655:p.Glu204Lys		119	0	0		96	0.14	13	NM_001102368	18	0.06	1	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100546	0.37048	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.06	4.16	0.48862	.	0.175523	0.48767	D	0.000172	T	0.28134	0.0694	N	0.24115	0.695	0.09310	N	1	P;B;P;B;P;P	0.38677	0.642;0.129;0.642;0.358;0.589;0.589	B;B;B;B;B;B	0.37508	0.252;0.084;0.252;0.116;0.163;0.163	T	0.16748	-1.0392	10	0.66056	D	0.02	.	8.6546	0.34055	0.0827:0.1537:0.7636:0.0	.	204;80;209;192;209;209	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	K	192;209;209;209;204;209;80;204;204;204;209	ENSP00000429453:E192K;ENSP00000256324:E209K;ENSP00000430137:E209K;ENSP00000428263:E209K;ENSP00000428974:E204K;ENSP00000428652:E209K;ENSP00000435459:E80K;ENSP00000404343:E204K;ENSP00000427953:E204K;ENSP00000429655:E204K;ENSP00000404196:E209K	ENSP00000256324:E209K	E	+	1	0	C14orf159	90712048	0.712000	0.27916	0.025000	0.17156	0.845000	0.48019	1.735000	0.38176	1.231000	0.43661	0.561000	0.74099	GAG			0.502	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381273.1		NM_024952		A	91642295	G	A	91642295	3	1	137	1	0	0	0	0	1	0	0	0	1757	943	33	3	643	3	C14orf159	14	91642295	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	30451929	91642295	15707245	63	10147											
DICER1	23405	mdanderson.org	37	chr14	95579466	95579466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtgagttaattggcagaTaaagagttgaataaaatgta	17	11	12	1	0	0	4	0	2	0	2	0	5	0	4	0	2	0	4	0	2	7	6			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr14:95579466T>C	ENST00000526495.1	-	14	2294	c.2003A>G	c.(2002-2004)tAt>tGt	p.Y668C	DICER1_ENST00000393063.1_Missense_Mutation_p.Y668C|DICER1_ENST00000541352.1_Missense_Mutation_p.Y668C|DICER1_ENST00000343455.3_Missense_Mutation_p.Y668C|DICER1_ENST00000527414.1_Missense_Mutation_p.Y668C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	668	Dicer dsRNA-binding fold. {ECO:0000255|PROSITE-ProRule:PRU00657}.				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)		AATTGGCAGATAAAGAGTTGA	0.373			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																												p.Y668C			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	.	.			0			c.A2003G												111	111	111					14																	95579466		2203	4300	6503	SO:0001583	missense	23405	exon12	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	GGCAGATAAAGAG	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.2003A>G	14.37:g.95579466T>C	ENSP00000437256:p.Tyr668Cys		101	0	0		93	0.04	4	NM_001271282	79	0.04	3	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807112	0.70797	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.72	5.03	5.03	0.67393	Dicer double-stranded RNA-binding fold (2);	0.063724	0.64402	D	0.000003	T	0.65739	0.2720	L	0.58101	1.795	0.58432	D	0.999995	D	0.76494	0.999	P	0.62813	0.907	T	0.65565	-0.6137	10	0.39692	T	0.17	-15.0597	14.7903	0.69837	0.0:0.0:0.0:1.0	.	668	Q9UPY3	DICER_HUMAN	C	668	ENSP00000343745:Y668C;ENSP00000437256:Y668C;ENSP00000376783:Y668C;ENSP00000435681:Y668C;ENSP00000444719:Y668C	ENSP00000343745:Y668C	Y	-	2	0	DICER1	94649219	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	4.228000	0.58619	1.901000	0.55032	0.455000	0.32223	TAT			0.373	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000387997.1				C	95579466	T	C	95579466	3	2	137	1	0	0	0	0	1	0	0	0	4526	1406	49	4	3829	4	DICER1	14	95579466	Missense_Mutation	SNP	T	TCGA-YU-A94I-01A-11D-A435-10	3937171	95579466	11770074	64	10148											
AK7	122481	broad.mit.edu;mdanderson.org	37	chr14	96858506	96858506	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccatggctgaagaagaGgaaactgctgctctcacgga	12	6	11	12	1	1	3	1	1	1	2	2	5	1	5	2	3	3	3	2	3	3	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr14:96858506G>A	ENST00000267584.4	+	1	59	c.15G>A	c.(13-15)gaG>gaA	p.E5E	AK7_ENST00000555570.1_Silent_p.E5E	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	5	Poly-Glu.				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)		CTGAAGAAGAGGAAACTGCTG	0.612																																					p.E5E													.	AK7	69		0			c.G15A												66	71	69					14																	96858506		2203	4300	6503	SO:0001819	synonymous_variant	122481	exon1			AGAAGAGGAAACT	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.15G>A	14.37:g.96858506G>A			63	0	0		55	0.09	5	NM_152327	11	0.09	1	Q8IYP6	Silent	SNP	ENST00000267584.4	37	CCDS9945.1																																																																																					0.612	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413340.1				A	96858506	G	A	96858506	2	1	137	1	0	0	0	0	0	0	0	1	444	991	35	3		3	AK7	14	96858506	Silent	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	1279040	96858506	10491034	65	10149											
SPTBN5	51332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	42156128	42156128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttgagctggcttcgcCgctggcagatgatcttgact	5	14	13	9	2	1	4	0	3	1	1	2	4	1	4	1	2	1	6	1	2	0	4	rs563656968		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr15:42156128C>T	ENST00000320955.6	-	40	7240	c.7013G>A	c.(7012-7014)cGg>cAg	p.R2338Q	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2338					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)		CTGGCTTCGCCGCTGGCAGAT	0.602													C|||	1	0.000199681	8e-04	0	5008	,	,		17491	0		0	False		,,,				2504	0				p.R2303Q													.	.			0			c.G6908A												114	117	116					15																	42156128		2021	4179	6200	SO:0001583	missense	51332	exon40			CTTCGCCGCTGGC	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.7013G>A	15.37:g.42156128C>T	ENSP00000317790:p.Arg2338Gln		54	0	0		39	0.15	6	NM_016642	10	0.2	2		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	34	5.292157	0.95546	.	.	ENSG00000137877	ENST00000320955	T	0.54675	0.56	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.70527	0.3234	M	0.66939	2.045	0.33380	D	0.574695	D	0.89917	1.0	D	0.91635	0.999	T	0.79699	-0.1694	10	0.72032	D	0.01	.	15.3493	0.74370	0.0:1.0:0.0:0.0	.	2338	Q9NRC6	SPTN5_HUMAN	Q	2338	ENSP00000317790:R2338Q	ENSP00000317790:R2338Q	R	-	2	0	SPTBN5	39943420	0.997000	0.39634	0.945000	0.38365	0.994000	0.84299	1.616000	0.36933	2.362000	0.80069	0.561000	0.74099	CGG			0.602	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000420237.1		NM_016642		T	42156128	C	T	42156128	3	4	137	1	0	0	0	0	1	0	0	0	15145	652	23	1	4127	1	SPTBN5	15	42156128	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10		42156128	60375264	66	10150											
HERC1	8925	broad.mit.edu;mdanderson.org	37	chr15	64019909	64019909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggcaggagtctattaaGgcaatcaagaggtggcaaca	14	7	13	7	0	2	1	1	0	1	1	2	2	2	2	0	5	2	4	0	5	5	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr15:64019909G>T	ENST00000443617.2	-	17	3370	c.3283C>A	c.(3283-3285)Ctt>Att	p.L1095I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1095					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						AGTCTATTAAGGCAATCAAGA	0.453																																					p.L1095I													.	HERC1	624		0			c.C3283A												58	56	57					15																	64019909		1900	4148	6048	SO:0001583	missense	8925	exon17			TATTAAGGCAATC	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.3283C>A	15.37:g.64019909G>T	ENSP00000390158:p.Leu1095Ile		239	0	0		138	0.04	5	NM_003922	5	0	0	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957584	0.92726	.	.	ENSG00000103657	ENST00000443617	T	0.69306	-0.39	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000004	T	0.58004	0.2092	L	0.29908	0.895	0.58432	D	0.999996	P	0.46987	0.888	B	0.39465	0.3	T	0.65179	-0.6231	10	0.66056	D	0.02	.	19.151	0.93488	0.0:0.0:1.0:0.0	.	1095	Q15751	HERC1_HUMAN	I	1095	ENSP00000390158:L1095I	ENSP00000390158:L1095I	L	-	1	0	HERC1	61806962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.696000	0.68287	2.528000	0.85240	0.655000	0.94253	CTT			0.453	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418523.1		NM_003922		T	64019909	G	T	64019909	3	4	137	1	0	0	0	0	1	0	0	0	7072	1000	35	3	11550	3	HERC1	15	64019909	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	21863781	64019909	38511483	67	10151											
STRA6	64220	mdanderson.org	37	chr15	74488353	74488353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggggtcagtgggtaccttgGctgggtgctgaggcgagagt	5	9	21	6	1	1	2	1	1	0	1	1	3	1	2	1	6	2	3	1	6	1	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr15:74488353G>T	ENST00000323940.5	-	5	647	c.402C>A	c.(400-402)agC>agA	p.S134R	STRA6_ENST00000574278.1_Missense_Mutation_p.S149R|STRA6_ENST00000416286.3_Missense_Mutation_p.S134R|STRA6_ENST00000395105.4_Missense_Mutation_p.S134R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000449139.2_Missense_Mutation_p.S134R|STRA6_ENST00000423167.2_Missense_Mutation_p.S125R|STRA6_ENST00000535552.1_Missense_Mutation_p.S171R|STRA6_ENST00000432245.2_Missense_Mutation_p.S134R|STRA6_ENST00000563965.1_Missense_Mutation_p.S173R	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	134					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						GGGTACCTTGGCTGGGTGCTG	0.597																																					p.S173R													.	.			0			c.C519A												58	49	52					15																	74488353		2198	4297	6495	SO:0001583	missense	64220	exon5			ACCTTGGCTGGGT	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.402C>A	15.37:g.74488353G>T	ENSP00000326085:p.Ser134Arg		61	0	0		44	0.07	3	NM_001199042	23	0	0	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659594	0.29515	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129;ENST00000432245	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.24	-0.298	0.12814	.	0.790012	0.12560	N	0.458278	T	0.78451	0.4285	L	0.43152	1.355	0.09310	N	1	B;B;D;B;B;B	0.57257	0.27;0.27;0.979;0.064;0.064;0.27	B;B;P;B;B;B	0.58454	0.062;0.089;0.839;0.062;0.062;0.089	T	0.65323	-0.6196	10	0.37606	T	0.19	-6.789	3.6983	0.08372	0.4603:0.0:0.366:0.1737	.	171;172;134;125;134;173	F5GYI8;B7Z5G7;Q9BX79-2;Q9BX79-3;Q9BX79;Q9BX79-4	.;.;.;.;STRA6_HUMAN;.	R	134;134;66;173;125;171;24;134	ENSP00000378537:S134R;ENSP00000326085:S134R;ENSP00000413012:S125R;ENSP00000440238:S171R;ENSP00000407176:S134R	ENSP00000326085:S134R	S	-	3	2	STRA6	72275406	0.000000	0.05858	0.009000	0.14445	0.052000	0.14988	-0.101000	0.10973	0.281000	0.22233	0.655000	0.94253	AGC			0.597	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272891.1				T	74488353	G	T	74488353	3	4	137	1	0	0	0	0	1	0	0	0	15345	1194	42	2	1711	2	STRA6	15	74488353	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	10468444	74488353	28043039	68	10152											
CACNA1H	8912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1254228	1254228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccggcacggtgaccgctggGaccccacgcgaccaccccgt	6	4	12	19	6	0	1	0	1	0	0	1	3	1	2	7	3	0	2	7	3	0	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr16:1254228G>A	ENST00000348261.5	+	10	2469	c.2221G>A	c.(2221-2223)Gac>Aac	p.D741N	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D741N|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D741N|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	741					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGACCGCTGGGACCCCACGCG	0.716																																					p.D741N													.	.			0			c.G2221A												17	23	21					16																	1254228		2146	4231	6377	SO:0001583	missense	8912	exon10			CGCTGGGACCCCA	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2221G>A	16.37:g.1254228G>A	ENSP00000334198:p.Asp741Asn		100	0	0		80	0.3	24	NM_021098	2	0.5	1	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757811	0.49468	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96913	-4.17;-4.12	4.21	4.21	0.49690	.	0.656042	0.14524	N	0.314264	D	0.97551	0.9198	M	0.67700	2.07	0.25071	N	0.990997	D;D	0.89917	1.0;0.994	D;P	0.71870	0.975;0.779	D	0.93215	0.6603	10	0.51188	T	0.08	.	15.7211	0.77710	0.0:0.0:1.0:0.0	.	741;741	O95180-2;O95180	.;CAC1H_HUMAN	N	741	ENSP00000334198:D741N;ENSP00000351401:D741N	ENSP00000334198:D741N	D	+	1	0	CACNA1H	1194229	1.000000	0.71417	0.167000	0.22817	0.007000	0.05969	3.930000	0.56522	2.193000	0.70182	0.561000	0.74099	GAC			0.716	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421601.1		NM_001005407		A	1254228	G	A	1254228	3	1	137	1	0	0	0	0	1	0	0	0	2547	1174	41	3	2255	3	CACNA1H	16	1254228	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		1254228	89100525	69	10153											
CREBBP	1387	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr16	3900553	3900554	+	Frame_Shift_Del	DEL	AA	AA	-																															aggcctgggtgggtctggttAaagttagcattcatgcagat																										TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	AA	AA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr16:3900553_3900554delAA	ENST00000262367.5	-	2	1351_1352	c.542_543delTT	c.(541-543)tttfs	p.F181fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.F181fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	181					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)		GGGTCTGGTTAAAGTTAGCATT	0.525			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.181_182del				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	CREBBP	546		0			c.543_544del																																									SO:0001589	frameshift_variant	1387	exon2			CTGGTTAAAGTTA	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.542_543delTT	16.37:g.3900553_3900554delAA	ENSP00000262367:p.Phe181fs		82	0	0		62	0.27	17	NM_001079846	76	0	0	D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	CCDS10509.1																																																																																					0.525	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251591.2		NM_004380		-	3900554	AA	-	3900553	7	5	137	1	0	1	0	1	0	0	0	0	3863	359	13	0	6905	0	CREBBP	16	3900553	Frame_Shift_Del	DEL	AA	TCGA-YU-A94I-01A-11D-A435-10	2646325	3900553	86454200	70	10154											
CDR2	1039	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	22376333	22376333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctcagcagcaagttgaaGatctagcacaacaaatgaat	18	7	8	8	0	2	3	1	2	1	1	2	3	2	3	0	0	5	5	0	0	7	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr16:22376333G>A	ENST00000268383.2	-	2	389	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	CDR2_ENST00000569045.1_5'UTR|RP11-21M24.3_ENST00000566764.1_RNA	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	28						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GCAAGTTGAAGATCTAGCACA	0.378																																					p.L28F													.	.			0			c.C82T												105	87	93					16																	22376333		2197	4300	6497	SO:0001583	missense	1039	exon2			GTTGAAGATCTAG	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.82C>T	16.37:g.22376333G>A	ENSP00000268383:p.Leu28Phe		84	0	0		83	0.43	36	NM_001802	48	0.54	26	A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594128	0.86953	.	.	ENSG00000140743	ENST00000268383	T	0.36157	1.27	5.91	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63932	-0.6525	10	0.72032	D	0.01	-11.9522	10.6749	0.45781	0.1415:0.0:0.8585:0.0	.	28	Q01850	CDR2_HUMAN	F	28	ENSP00000268383:L28F	ENSP00000268383:L28F	L	-	1	0	CDR2	22283834	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.149000	0.64863	2.804000	0.96469	0.462000	0.41574	CTT			0.378	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430081.1				A	22376333	G	A	22376333	3	1	137	1	0	0	0	0	1	0	0	0	3174	942	33	3	1298	3	CDR2	16	22376333	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	18475780	22376333	67978420	71	10155											
HERPUD1	9709	mdanderson.org	37	chr16	56973165	56973165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggcctgaagctgcccagCaggcattccaaggcctgggt	9	7	13	12	0	0	1	0	1	0	0	1	1	1	1	4	4	3	3	4	4	3	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr16:56973165C>A	ENST00000439977.2	+	5	645	c.448C>A	c.(448-450)Cag>Aag	p.Q150K	HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000379792.2_Missense_Mutation_p.Q125K|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.Q149K|RP11-325K4.3_ENST00000565861.1_RNA|RP11-325K4.2_ENST00000570210.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	150					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AGCTGCCCAGCAGGCATTCCA	0.423			T	ERG	prostate																																p.Q150K				Dom	yes		16	16q12.2-q13	9709	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"		E	.	.			0			c.C448A												124	134	131					16																	56973165		2198	4300	6498	SO:0001583	missense	9709	exon5			GCCCAGCAGGCAT	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.448C>A	16.37:g.56973165C>A	ENSP00000409555:p.Gln150Lys		68	0	0		44	0.07	3	NM_014685	93	0	0	E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	C	4.871	0.161893	0.09287	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T;T	0.31769	1.85;1.48	5.98	5.98	0.97165	.	0.729507	0.14356	N	0.324752	T	0.29158	0.0725	L	0.47716	1.5	0.42326	D	0.992279	B;B;B;B	0.25235	0.023;0.121;0.009;0.005	B;B;B;B	0.17979	0.006;0.02;0.008;0.004	T	0.03068	-1.1076	10	0.29301	T	0.29	-17.0674	14.2973	0.66321	0.1484:0.8516:0.0:0.0	.	150;125;149;150	A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	K	149;125;150	ENSP00000409555:Q149K;ENSP00000369118:Q125K	ENSP00000300302:Q150K	Q	+	1	0	HERPUD1	55530666	0.140000	0.22579	1.000000	0.80357	0.996000	0.88848	1.680000	0.37607	2.838000	0.97847	0.591000	0.81541	CAG			0.423	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257056.5				A	56973165	C	A	56973165	3	1	137	1	0	0	0	0	1	0	0	0	7078	711	25	2	466	2	HERPUD1	16	56973165	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	34596832	56973165	33381588	72	10156											
NEURL4	84461	mdanderson.org	37	chr17	7224486	7224486	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctcactgccggtgtctGaactgggggaaggaggctgg	6	7	17	11	2	2	1	1	1	1	0	2	3	2	3	2	6	2	1	2	6	2	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr17:7224486G>T	ENST00000399464.2	-	20	3320	c.3305C>A	c.(3304-3306)tCa>tAa	p.S1102*	NEURL4_ENST00000574120.1_5'Flank|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Nonsense_Mutation_p.S1100*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.S1078*	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1102						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCGGTGTCTGAACTGGGGGA	0.607																																					p.S1102X													.	.			0			c.C3305A												62	66	64					17																	7224486		2182	4278	6460	SO:0001587	stop_gained	84461	exon20			GTGTCTGAACTGG		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3305C>A	17.37:g.7224486G>T	ENSP00000382390:p.Ser1102*		66	0	0		51	0.06	3	NM_032442	143	0	0	Q6GPI8|Q96IU9|Q9H0B0	Nonsense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	40	8.345824	0.98769	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	4.73	2.74	0.32292	.	0.168292	0.41097	D	0.000951	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5802	9.9022	0.41355	0.17:0.0:0.83:0.0	.	.	.	.	X	1100;1102	.	ENSP00000319826:S1100X	S	-	2	0	NEURL4	7165210	0.998000	0.40836	0.629000	0.29254	0.946000	0.59487	2.704000	0.47118	0.606000	0.29965	0.563000	0.77884	TCA			0.607	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255434.2		NM_032442		T	7224486	G	T	7224486	4	4	137	1	0	0	0	0	0	1	0	0	10364	1294	45	3	1423	3	NEURL4	17	7224486	Nonsense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		7224486	73970724	73	10157											
FAM18B2	201158	ucsc.edu	37	chr17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaactcacagagaagaCagacgatgattgcactgact	15	7	10	9	1	1	6	1	3	0	3	1	8	1	6	0	0	3	2	0	0	2	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274	265	268					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		281	0.0640569395	18		268	0.04	11	NM_145301	120	0.33	40	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301		T	15457087	C	T	15457087	3	4	137	1	0	0	0	0	1	0	0	0	5530	478	17	3	848	3	FAM18B2	17	15457087	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	8232601	15457087	65738123	74	10158											
TRIM16	10626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	15532122	15532122	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaggatccctcccgggAagtcgatatagaccccgagc	12	5	12	12	3	0	1	0	0	0	1	3	6	2	4	4	3	1	0	4	3	4	2	rs543438903		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr17:15532122A>T	ENST00000578237.1	-	11	2357	c.1502T>A	c.(1501-1503)tTc>tAc	p.F501Y	TRIM16_ENST00000577886.1_Missense_Mutation_p.F285Y|TRIM16_ENST00000416464.2_Missense_Mutation_p.F371Y|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Missense_Mutation_p.F501Y|RP11-385D13.1_ENST00000455584.2_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	501	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CCCTCCCGGGAAGTCGATATA	0.527																																					p.F501Y													.	.			0			c.T1502A												72	73	73					17																	15532122		2203	4300	6503	SO:0001583	missense	10626	exon9			CCCGGGAAGTCGA	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1502T>A	17.37:g.15532122A>T	ENSP00000463188:p.Phe501Tyr		169	0	0		166	0.3	49	NM_006470	35	0.31	11	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	2.301	-0.360271	0.05103	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.56776	0.44;0.44	4.72	3.5	0.40072	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.15478	0.0373	N	0.00408	-1.53	0.33075	D	0.535858	B;B	0.20368	0.044;0.042	B;B	0.22601	0.03;0.04	T	0.33548	-0.9864	9	0.05959	T	0.93	.	6.9073	0.24315	0.6468:0.0:0.0:0.3532	.	371;501	B3KP96;O95361	.;TRI16_HUMAN	Y	501;371	ENSP00000338989:F501Y;ENSP00000399918:F371Y	ENSP00000338989:F501Y	F	-	2	0	TRIM16	15472847	1.000000	0.71417	0.963000	0.40424	0.228000	0.25075	5.983000	0.70540	1.894000	0.54839	0.528000	0.53228	TTC			0.527	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130700.2		NM_006470		T	15532122	A	T	15532122	3	4	137	1	0	0	0	0	1	0	0	0	16515	246	9	5	196	5	TRIM16	17	15532122	Missense_Mutation	SNP	A	TCGA-YU-A94I-01A-11D-A435-10	75035	15532122	65663088	75	10159											
KRT9	3857	broad.mit.edu	37	chr17	39728194	39728194	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggccgcccccgccAcccccgccgctgcggctcaa	4	3	10	24	5	1	0	1	0	0	0	1	0	1	0	8	2	2	2	8	2	1	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr17:39728194A>C	ENST00000246662.4	-	1	116	c.51T>G	c.(49-51)ggT>ggG	p.G17G	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	17	Head.|Poly-Gly.				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)				CGCCCCCGCCACCCCCGCCGC	0.642																																					p.G17G													.	KRT9	78		0			c.T51G																																									SO:0001819	synonymous_variant	3857	exon1			CCCGCCACCCCCG		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.51T>G	17.37:g.39728194A>C			41	0.1463414634	6		29	0.52	15	NM_000226	0		0	O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	CCDS32654.1																																																																																					0.642	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257707.1		NM_000226		C	39728194	A	C	39728194	2	2	137	1	0	0	0	0	0	0	0	1	8516	146	6	4		4	KRT9	17	39728194	Silent	SNP	A	TCGA-YU-A94I-01A-11D-A435-10	24196072	39728194	41467016	76	10160											
PPM1D	8493	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr17	58740737	58740737	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattctggccccctgatgAagaagcatagacgaaatggc	13	7	10	11	1	1	4	0	2	1	2	1	5	1	4	3	2	1	1	3	2	5	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr17:58740737A>T	ENST00000305921.3	+	6	1874	c.1642A>T	c.(1642-1644)Aag>Tag	p.K548*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	548					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)			CCCCCTGATGAAGAAGCATAG	0.463											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.K548X													.	.			0			c.A1642T												77	73	75					17																	58740737		2203	4300	6503	SO:0001587	stop_gained	8493	exon6			CTGATGAAGAAGC	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.1642A>T	17.37:g.58740737A>T	ENSP00000306682:p.Lys548*		109	0	0	1033	84	0.31	26	NM_003620	44	0.36	16	Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	ENST00000305921.3	37	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	A	40	8.113692	0.98659	.	.	ENSG00000170836	ENST00000305921	.	.	.	6.08	6.08	0.98989	.	0.120334	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3048	16.6512	0.85203	1.0:0.0:0.0:0.0	.	.	.	.	X	548	.	ENSP00000306682:K548X	K	+	1	0	PPM1D	56095519	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.400000	0.73252	2.333000	0.79357	0.482000	0.46254	AAG			0.463	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449474.1		NM_003620		T	58740737	A	T	58740737	4	4	137	1	0	0	0	0	0	1	0	0	12357	247	9	5	1664	5	PPM1D	17	58740737	Nonsense_Mutation	SNP	A	TCGA-YU-A94I-01A-11D-A435-10	19012543	58740737	22454473	77	10161											
FTSJ3	11325	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr17	61898885	61898886	+	IGR	DEL	TG	TG	-																															tcaaacaggaagggggtgtcTgtggcagctgctgcttctgc																										TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	TG	TG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr17:61898885_61898886delTG	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Frame_Shift_Del_p.Q572fs	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						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						AGGGGGTGTCTGTGGCAGCTGC	0.574																																					p.572_572del													.	FTSJ3	63		0			c.1715_1716del																																									SO:0001628	intergenic_variant	117246	exon16			GGTGTCTGTGGCA	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			17.37:g.61898887_61898888delTG			75	0	0		64	0	0	NM_017647	128	0	0	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Frame_Shift_Del	DEL	ENST00000578681.1	37	CCDS32704.1																																																																																					0.574	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444368.1		NM_007372		-	61898886	TG	-	61898885	6	5	137	0	1	1	0	1	0	0	0	0	6102	1580	55	0		0	FTSJ3	17	61898885	IGR	DEL	TG	TCGA-YU-A94I-01A-11D-A435-10	3158148	61898885	19296325	78	10162											
QRICH2	84074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	74288014	74288014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggataggcaccaggttgtaCcaggccatgtggatctgcct	9	9	13	10	0	1	0	0	0	1	0	1	2	1	2	4	5	2	3	4	5	2	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr17:74288014C>T	ENST00000262765.5	-	4	2475	c.2296G>A	c.(2296-2298)Gta>Ata	p.V766I		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	766										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						CCAGGTTGTACCAGGCCATGT	0.537																																					p.V766I													.	.			0			c.G2296A												187	177	181					17																	74288014		2203	4300	6503	SO:0001583	missense	84074	exon4			GTTGTACCAGGCC	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.2296G>A	17.37:g.74288014C>T	ENSP00000262765:p.Val766Ile		102	0	0		117	0.11	13	NM_032134	5	0	0	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550690	0.27739	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08458	3.09	4.8	3.82	0.43975	.	.	.	.	.	T	0.10294	0.0252	L	0.55103	1.725	0.09310	N	1	P;B	0.46784	0.884;0.4	B;B	0.42738	0.396;0.121	T	0.16897	-1.0387	9	0.19590	T	0.45	-5.9867	10.7472	0.46187	0.1903:0.8097:0.0:0.0	.	766;766	B5MD94;Q9H0J4	.;QRIC2_HUMAN	I	766	ENSP00000262765:V766I	ENSP00000262765:V766I	V	-	1	0	QRICH2	71799609	0.000000	0.05858	0.061000	0.19648	0.496000	0.33645	0.438000	0.21559	1.127000	0.42034	0.448000	0.29417	GTA			0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395140.1		NM_032134		T	74288014	C	T	74288014	3	4	137	1	0	0	0	0	1	0	0	0	12903	507	18	3	2759	3	QRICH2	17	74288014	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	12389129	74288014	6907196	79	10163											
EMILIN2	84034	mdanderson.org	37	chr18	2913083	2913083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggtcttcacggctccttAtgatgggcgctacctgatca	7	11	12	11	2	3	2	2	2	1	0	4	2	4	2	2	4	1	2	2	4	2	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr18:2913083A>G	ENST00000254528.3	+	8	3002	c.2843A>G	c.(2842-2844)tAt>tGt	p.Y948C	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	948	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACGGCTCCTTATGATGGGCGC	0.617																																					p.Y948C													.	.			0			c.A2843G												48	50	50					18																	2913083		2203	4300	6503	SO:0001583	missense	84034	exon8			CTCCTTATGATGG	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2843A>G	18.37:g.2913083A>G	ENSP00000254528:p.Tyr948Cys		52	0.0192307692	1		20	0.15	3	NM_032048	56	0.02	1	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449419	0.26074	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	T	0.04654	3.58	5.38	4.15	0.48705	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.598323	0.15953	N	0.236645	T	0.12860	0.0312	L	0.43152	1.355	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.09952	-1.0651	10	0.44086	T	0.13	-11.169	10.1007	0.42502	0.5565:0.0:0.0:0.4435	.	948	Q9BXX0	EMIL2_HUMAN	C	948;225	ENSP00000254528:Y948C	ENSP00000254528:Y948C	Y	+	2	0	EMILIN2	2903083	0.050000	0.20438	0.011000	0.14972	0.012000	0.07955	1.289000	0.33307	0.844000	0.35094	0.533000	0.62120	TAT			0.617	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250337.2		NM_032048		G	2913083	A	G	2913083	3	3	137	1	0	0	0	0	1	0	0	0	5101	449	16	4	2873	4	EMILIN2	18	2913083	Missense_Mutation	SNP	A	TCGA-YU-A94I-01A-11D-A435-10		2913083	75164165	80	10164											
PRSSL1	400668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	686926	686926	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagggaggggatcttaccGagcagaagccccgtctgtgg	9	6	16	10	2	2	1	0	0	2	1	2	4	2	3	3	4	4	2	3	4	2	1	rs372538839		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr19:686926G>A	ENST00000329267.7	-	4	673	c.644C>T	c.(643-645)tCg>tTg	p.S215L		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	215	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						GGATCTTACCGAGCAGAAGCC	0.622																																					p.S215L													.	.			0			c.C644T												56	57	56					19																	686926		2203	4300	6503	SO:0001630	splice_region_variant	400668	exon4			CTTACCGAGCAGA	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.645+1C>T	19.37:g.686926G>A			130	0	0		72	0.36	26	NM_214710	0		0	B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802675	0.70682	.	.	ENSG00000185198	ENST00000329267	D	0.88818	-2.43	4.91	3.8	0.43715	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.451111	0.16600	N	0.207397	D	0.87939	0.6304	L	0.40543	1.245	0.80722	D	1	D;D	0.61697	0.979;0.99	P;P	0.51055	0.657;0.657	D	0.87570	0.2477	10	0.46703	T	0.11	.	13.731	0.62787	0.0:0.1552:0.8448:0.0	.	214;215	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	L	215	ENSP00000327386:S215L	ENSP00000327386:S215L	S	-	2	0	PRSS57	637926	0.610000	0.26983	1.000000	0.80357	0.647000	0.38526	2.287000	0.43505	2.265000	0.75225	0.462000	0.41574	TCG			0.622	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452480.2		NM_214710	Missense_Mutation	A	686926	G	A	686926	5	1	137	1	0	0	0	0	0	0	1	0	12656	1072	37	1	215	1	PRSSL1	19	686926	Splice_Site	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		686926	58442057	81	10165											
MUC16	94025	mdanderson.org	37	chr19	9024140	9024140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgactgatacttacttgtggGgctggagagggaggatggag	9	10	18	4	0	0	3	0	2	0	1	0	7	0	6	0	6	2	1	0	6	2	3			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr19:9024140G>T	ENST00000397910.4	-	18	37335	c.37132C>A	c.(37132-37134)Ccc>Acc	p.P12378T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12380					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						TTACTTGTGGGGCTGGAGAGG	0.438																																					p.P12378T													.	.			0			c.C37132A												79	75	76					19																	9024140		1902	4120	6022	SO:0001583	missense	94025	exon18			TTGTGGGGCTGGA	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.37132C>A	19.37:g.9024140G>T	ENSP00000381008:p.Pro12378Thr		118	0	0		57	0.05	3	NM_024690	0		0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.719	0.696807	0.15106	.	.	ENSG00000181143	ENST00000397910	T	0.02103	4.45	1.54	-2.2	0.06994	.	.	.	.	.	T	0.02767	0.0083	M	0.69823	2.125	.	.	.	P	0.47962	0.903	B	0.37508	0.252	T	0.26780	-1.0093	8	0.87932	D	0	.	5.0401	0.14454	0.4831:0.0:0.5169:0.0	.	12378	B5ME49	.	T	12378	ENSP00000381008:P12378T	ENSP00000381008:P12378T	P	-	1	0	MUC16	8885140	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-1.753000	0.01818	-0.542000	0.06249	0.196000	0.17591	CCC			0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690		T	9024140	G	T	9024140	3	4	137	1	0	0	0	0	1	0	0	0	9989	1232	43	3	6659	3	MUC16	19	9024140	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	8337214	9024140	50104843	82	10166											
C19orf66	55337	mdanderson.org	37	chr19	10200662	10200662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttatccctgctgtggaccGgcagtttgcctgctcctcct	3	13	9	16	1	0	0	0	0	0	0	3	1	3	1	6	2	3	4	6	2	1	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr19:10200662G>T	ENST00000253110.11	+	5	621	c.323G>T	c.(322-324)cGg>cTg	p.R108L	C19orf66_ENST00000397881.3_Missense_Mutation_p.R57L|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Missense_Mutation_p.R108L	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	108										large_intestine(3)|skin(1)	4						GCTGTGGACCGGCAGTTTGCC	0.607																																					p.R108L													.	.			0			c.G323T												48	49	49					19																	10200662		2169	4264	6433	SO:0001583	missense	55337	exon5			TGGACCGGCAGTT		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.323G>T	19.37:g.10200662G>T	ENSP00000253110:p.Arg108Leu		106	0	0		54	0.06	3	NM_018381	11	0	0	A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Missense_Mutation	SNP	ENST00000253110.11	37	CCDS45957.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121655	0.56613	.	.	ENSG00000130813	ENST00000253110;ENST00000397881	.	.	.	4.3	4.3	0.51218	.	0.432330	0.16698	N	0.203268	T	0.39009	0.1062	N	0.24115	0.695	0.41141	D	0.98595	P;P;P	0.47841	0.901;0.772;0.772	B;B;B	0.39465	0.3;0.26;0.26	T	0.45086	-0.9285	9	0.56958	D	0.05	-22.0365	13.8014	0.63202	0.0:0.0:1.0:0.0	.	57;108;108	Q9NUL5-2;Q9NUL5-4;Q9NUL5	.;.;CS066_HUMAN	L	108;57	.	ENSP00000253110:R108L	R	+	2	0	C19orf66	10061662	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.299000	0.59073	2.236000	0.73375	0.561000	0.74099	CGG			0.607	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000451129.1		NM_018381		T	10200662	G	T	10200662	3	4	137	1	0	0	0	0	1	0	0	0	1948	1116	39	1	341	1	C19orf66	19	10200662	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	1176522	10200662	48928321	83	10167											
PRKCSH	5589	hgsc.bcm.edu	37	chr19	11558370	11558370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgaagaagaggctgaagaaga	17	1	22	1	0	0	5	0	1	0	4	0	13	0	12	0	8	0	1	0	8	4	0	rs77563879		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				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)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E													PRKCSH,caecum,carcinoma,0,1	PRKCSH	0	1	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A												27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		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.966G>A	19.37:g.11558370G>A			52	0	0		45	0.09	4	NM_001001329	132	0	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																					0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000458817.1				A	11558370	G	A	11558370	2	1	137	1	0	0	0	0	0	0	0	1	12536	991	35	3		3	PRKCSH	19	11558370	Silent	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	1357708	11558370	47570613	84	10168											
KCTD15	79047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	34292141	34292141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctggctgcccagggcatcCccctgccagcccagctcacc	5	5	9	22	0	1	0	1	0	0	0	2	0	2	0	7	2	4	3	7	2	0	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr19:34292141C>A	ENST00000430256.3	+	3	544	c.136C>A	c.(136-138)Ccc>Acc	p.P46T	KCTD15_ENST00000588881.1_Missense_Mutation_p.P46T|KCTD15_ENST00000284006.6_Missense_Mutation_p.P46T|KCTD15_ENST00000589786.1_Missense_Mutation_p.P46T			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	46					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CCAGGGCATCCCCCTGCCAGC	0.612																																					p.P46T	Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)												.	.			0			c.C136A												81	75	77					19																	34292141		2203	4300	6503	SO:0001583	missense	79047	exon4			GGCATCCCCCTGC	AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"potassium channel tetramerisation domain containing 15"			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.136C>A	19.37:g.34292141C>A	ENSP00000394390:p.Pro46Thr		65	0	0		46	0.28	13	NM_001129995	166	0.32	53	A8K600|Q9BVI6	Missense_Mutation	SNP	ENST00000430256.3	37	CCDS46039.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410974	0.83340	.	.	ENSG00000153885	ENST00000430256;ENST00000284006;ENST00000422820	T;T	0.78924	0.56;-1.22	5.46	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79212	-0.1896	10	0.33940	T	0.23	.	13.0598	0.59000	0.0:0.9226:0.0:0.0774	.	46;46	Q96SI1;Q96SI1-2	KCD15_HUMAN;.	T	46;46;49	ENSP00000394390:P46T;ENSP00000284006:P46T	ENSP00000284006:P46T	P	+	1	0	KCTD15	38983981	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	7.440000	0.80464	1.304000	0.44892	0.655000	0.94253	CCC			0.612	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451462.2		NM_024076		A	34292141	C	A	34292141	3	1	137	1	0	0	0	0	1	0	0	0	8117	623	22	3	142	3	KCTD15	19	34292141	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	22733771	34292141	24836842	85	10169											
LRFN3	79414	broad.mit.edu;mdanderson.org	37	chr19	36435792	36435792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgtttgctcccagacCaacggcgccctgggccccac	7	5	11	18	3	0	1	0	0	0	1	1	1	1	1	5	2	4	3	5	2	1	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr19:36435792C>T	ENST00000588831.1	+	4	2812	c.1758C>T	c.(1756-1758)acC>acT	p.T586T	LRFN3_ENST00000246529.3_Silent_p.T586T|AF038458.3_ENST00000592518.1_lincRNA			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	586					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)			GCTCCCAGACCAAcggcgccc	0.721																																					p.T586T													.	LRFN3	43		0			c.C1758T												19	16	17					19																	36435792		2202	4297	6499	SO:0001819	synonymous_variant	79414	exon3			CCAGACCAACGGC	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.1758C>T	19.37:g.36435792C>T			13	0	0		11	0.36	4	NM_024509	14	0.29	4	Q6UY10	Silent	SNP	ENST00000588831.1	37	CCDS12483.1																																																																																					0.721	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457403.2		NM_024509		T	36435792	C	T	36435792	2	4	137	1	0	0	0	0	0	0	0	1	8955	581	21	3		3	LRFN3	19	36435792	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	2143651	36435792	22693191	86	10170											
STRN4	29888	mdanderson.org	37	chr19	47232034	47232034	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagagccttggatgggaGctggcacatggagaaagcca	12	5	14	10	0	0	2	0	0	0	2	0	5	0	4	3	4	3	2	3	4	1	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr19:47232034G>T	ENST00000263280.6	-	7	929	c.880C>A	c.(880-882)Ctc>Atc	p.L294I	STRN4_ENST00000539396.1_Splice_Site_p.L175I|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000391910.3_Splice_Site_p.L294I	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	294						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTGGATGGGAGCTGGCACATG	0.567											OREG0025579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L294I													.	.			0			c.C880A												74	72	73					19																	47232034		2203	4300	6503	SO:0001630	splice_region_variant	29888	exon7			ATGGGAGCTGGCA	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.880-1C>A	19.37:g.47232034G>T			60	0	0	945	54	0.06	3	NM_001039877	452	0	0	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	5.384	0.256160	0.10185	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.62639	0.01;0.01;0.11	4.19	3.08	0.35506	.	0.168583	0.39909	N	0.001228	T	0.31451	0.0797	N	0.02539	-0.55	0.35028	D	0.758507	B;B	0.18310	0.015;0.027	B;B	0.18871	0.023;0.006	T	0.34453	-0.9828	10	0.22109	T	0.4	-19.9399	8.7277	0.34480	0.1244:0.0:0.8756:0.0	.	294;294	F8VYA6;Q9NRL3	.;STRN4_HUMAN	I	294;294;175;175	ENSP00000375777:L294I;ENSP00000263280:L294I;ENSP00000440901:L175I	ENSP00000263280:L294I	L	-	1	0	STRN4	51923874	1.000000	0.71417	0.999000	0.59377	0.749000	0.42624	4.689000	0.61723	2.174000	0.68829	0.462000	0.41574	CTC			0.567	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000466607.2			Missense_Mutation	T	47232034	G	T	47232034	5	4	137	1	0	0	0	0	0	0	1	0	15354	985	34	2	1446	2	STRN4	19	47232034	Splice_Site	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	10796242	47232034	11896949	87	10171											
FUZ	80199	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50312451	50312451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggctgaggggtgggctcGgcccgcagagtagacacagc	8	5	17	11	2	0	3	0	1	0	2	1	3	0	3	1	5	1	4	1	5	1	1	rs376948728		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr19:50312451G>T	ENST00000313777.4	-	7	918	c.755C>A	c.(754-756)cCg>cAg	p.P252Q	FUZ_ENST00000534008.1_5'Flank|FUZ_ENST00000528094.1_Missense_Mutation_p.P216Q|FUZ_ENST00000445575.2_Missense_Mutation_p.P252Q|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_Missense_Mutation_p.P202Q	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	252	Leu-rich.				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)		GGGTGGGCTCGGCCCGCAGAG	0.677																																					p.P252Q													.	.			0			c.C755A												18	17	17					19																	50312451		2030	3994	6024	SO:0001583	missense	80199	exon7			GGGCTCGGCCCGC	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.755C>A	19.37:g.50312451G>T	ENSP00000313309:p.Pro252Gln		115	0	0		67	0.27	18	NM_025129	83	0.37	31	B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230499	0.79688	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	4.46	4.46	0.54185	.	0.058843	0.64402	D	0.000002	T	0.50565	0.1623	M	0.75777	2.31	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.55509	-0.8130	10	0.87932	D	0	-18.307	14.1275	0.65230	0.0:0.0:1.0:0.0	.	216;252	Q9BT04-3;Q9BT04	.;FUZZY_HUMAN	Q	216;202;252;252;152;252;202	ENSP00000435177:P216Q;ENSP00000431731:P202Q;ENSP00000313309:P252Q;ENSP00000408018:P252Q	ENSP00000313309:P252Q	P	-	2	0	FUZ	55004263	1.000000	0.71417	0.974000	0.42286	0.552000	0.35366	4.544000	0.60691	2.305000	0.77605	0.462000	0.41574	CCG			0.677	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393986.1		NM_025129		T	50312451	G	T	50312451	3	4	137	1	0	0	0	0	1	0	0	0	6125	1116	39	1	521	1	FUZ	19	50312451	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	3080417	50312451	8816532	88	10172											
SYT3	84258	mdanderson.org	37	chr19	51135704	51135704	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggccactgctgctgcTgcagcctctggatacgagtc	6	8	12	15	2	1	0	0	0	1	0	2	2	1	1	3	2	7	4	3	2	1	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr19:51135704T>A	ENST00000338916.4	-	2	1146	c.513A>T	c.(511-513)gcA>gcT	p.A171A	SYT3_ENST00000544769.1_Silent_p.A171A|SYT3_ENST00000600079.1_Silent_p.A171A|SYT3_ENST00000593901.1_Silent_p.A171A	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	171					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTGCTGCTGCTGCAGCCTCTG	0.647																																					p.A171A													.	.			0			c.A513T												25	26	26					19																	51135704		2195	4282	6477	SO:0001819	synonymous_variant	84258	exon2			TGCTGCTGCAGCC	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.513A>T	19.37:g.51135704T>A			70	0	0		39	0.08	3	NM_032298	0		0	Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	CCDS12798.1																																																																																					0.647	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464910.1		NM_032298		A	51135704	T	A	51135704	2	1	137	1	0	0	0	0	0	0	0	1	15498	1567	55	5		5	SYT3	19	51135704	Silent	SNP	T	TCGA-YU-A94I-01A-11D-A435-10	823253	51135704	7993279	89	10173											
CRNKL1	51340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	20033204	20033204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctccttgcggcagcgcGtggagtgcggcgtcctggag	3	8	17	13	6	0	0	0	0	0	0	3	2	3	2	3	4	3	1	3	4	0	1			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr20:20033204G>A	ENST00000377340.2	-	2	297	c.266C>T	c.(265-267)aCg>aTg	p.T89M	C20orf26_ENST00000245957.5_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.T77M|C20orf26_ENST00000377306.1_5'UTR|CRNKL1_ENST00000536226.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	89					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCGGCAGCGCGTGGAGTGCGG	0.667																																					p.T89M													.	.			0			c.C266T												48	43	45					20																	20033204		2203	4298	6501	SO:0001583	missense	51340	exon2			CAGCGCGTGGAGT	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.266C>T	20.37:g.20033204G>A	ENSP00000366557:p.Thr89Met		63	0	0		56	0.36	20	NM_016652	0		0	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873977	0.33069	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.29655	1.56;1.56	4.43	-0.265	0.12946	.	4.303840	0.00644	N	0.000523	T	0.14184	0.0343	N	0.08118	0	0.21782	N	0.999549	P;B	0.34892	0.474;0.244	B;B	0.25140	0.058;0.015	T	0.17930	-1.0353	10	0.87932	D	0	1.1774	2.7007	0.05148	0.0946:0.156:0.2943:0.4551	.	77;89	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	M	77;89	ENSP00000366544:T77M;ENSP00000366557:T89M	ENSP00000366544:T77M	T	-	2	0	CRNKL1	19981204	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.885000	0.04161	0.184000	0.20083	0.561000	0.74099	ACG			0.667	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000127787.1				A	20033204	G	A	20033204	3	1	137	1	0	0	0	0	1	0	0	0	3893	1145	40	1	2336	1	CRNKL1	20	20033204	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		20033204	42992316	90	10174											
ZFP64	55734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr20	50769116	50769116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgcaggatctgcagccGgctgttccctgggagttcct	4	10	14	13	2	1	0	0	0	1	0	3	2	3	2	3	4	2	5	3	4	0	2			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr20:50769116G>A	ENST00000216923.4	-	6	1964	c.1615C>T	c.(1615-1617)Cgg>Tgg	p.R539W	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.R485W|ZFP64_ENST00000371515.4_Missense_Mutation_p.R537W|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	539					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)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ATCTGCAGCCGGCTGTTCCCT	0.687																																					p.R539W													.	.			0			c.C1615T												26	31	29					20																	50769116		2202	4300	6502	SO:0001583	missense	55734	exon6			GCAGCCGGCTGTT	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1615C>T	20.37:g.50769116G>A	ENSP00000216923:p.Arg539Trp		14	0	0		21	0.33	7	NM_018197	58	0.38	22	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821662	0.50633	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083	T;T;T	0.08102	3.13;3.18;3.13	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000041	T	0.14141	0.0342	L	0.29908	0.895	0.42176	D	0.991666	D;D;D	0.69078	0.997;0.995;0.995	P;P;P	0.52710	0.707;0.513;0.513	T	0.02339	-1.1174	10	0.38643	T	0.18	-27.7216	19.3237	0.94253	0.0:0.0:1.0:0.0	.	485;537;539	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	W	539;485;537;381	ENSP00000216923:R539W;ENSP00000344615:R485W;ENSP00000360570:R537W	ENSP00000216923:R539W	R	-	1	2	ZFP64	50202523	1.000000	0.71417	0.991000	0.47740	0.015000	0.08874	2.947000	0.49058	2.563000	0.86464	0.650000	0.86243	CGG			0.687	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000079744.1		NM_018197		A	50769116	G	A	50769116	3	1	137	1	0	0	0	0	1	0	0	0	17675	1115	39	1	1625	1	ZFP64	20	50769116	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	30735912	50769116	12256404	91	10175											
BAGE2	85319	bcgsc.ca	37	chr21	11058295	11058295	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcacagcatttgatagtgGctccaaagtgcttacaaaat	13	12	7	9	0	1	1	1	1	0	0	2	1	2	1	1	1	3	3	1	1	5	4			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr21:11058295G>A	ENST00000470054.1	-	0	352							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)		TTTGATAGTGGCTCCAAAGTG	0.408																																					p.P49S													.	.			0			c.C145T												132	98	109					21																	11058295		692	1591	2283			85319	exon3			ATAGTGGCTCCAA	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.11058295G>A			271	0.0110701107	3		219	0.05	10	NM_182482	0		0	A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.408	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000157417.3		NM_182482		A	11058295	G	A	11058295	1	1	137	0	1	0	0	0	0	0	0	0	1292	1203	42	2		2	BAGE2	21	11058295	RNA	SNP	G	TCGA-YU-A94I-01A-11D-A435-10		11058295	37071600	92	10176											
SYNJ1	8867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	34050984	34050984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagtagttaaaagtgctCgagctttgtcagctaaatca	12	13	8	8	1	2	0	2	0	0	0	4	1	3	0	1	0	3	5	1	0	5	5			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr21:34050984C>T	ENST00000322229.7	-	11	1480	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	SYNJ1_ENST00000382491.3_Missense_Mutation_p.R497Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R494Q|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R533Q|SYNJ1_ENST00000382499.2_Missense_Mutation_p.R533Q			O43426	SYNJ1_HUMAN	synaptojanin 1	494					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TAAAAGTGCTCGAGCTTTGTC	0.348																																					p.R533Q													SYNJ1,rectum,carcinoma,-1,1	SYNJ1	-1	1	0			c.G1598A												87	82	84					21																	34050984		2203	4300	6503	SO:0001583	missense	8867	exon12			AGTGCTCGAGCTT	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1481G>A	21.37:g.34050984C>T	ENSP00000322234:p.Arg494Gln		184	0	0		171	0.2	34	NM_203446	10	0.2	2	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	36	5.779301	0.96929	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.99	5.99	0.97316	.	0.058295	0.64402	D	0.000002	T	0.58495	0.2126	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.997;1.0	P;P;D;P;D	0.97110	0.823;0.848;1.0;0.848;0.996	T	0.60378	-0.7275	10	0.72032	D	0.01	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	497;533;494;494;494	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	Q	497;494;533;533;494;497	ENSP00000371931:R497Q;ENSP00000349903:R494Q;ENSP00000371939:R533Q;ENSP00000409667:R533Q;ENSP00000322234:R494Q;ENSP00000413649:R497Q	ENSP00000322234:R494Q	R	-	2	0	SYNJ1	32972855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	CGA			0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding						T	34050984	C	T	34050984	3	4	137	1	0	0	0	0	1	0	0	0	15475	884	31	1	3349	1	SYNJ1	21	34050984	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	22992689	34050984	14078911	93	10177											
YWHAH	7533	mdanderson.org	37	chr22	32352743	32352743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctcaccctctggacgagCgaccagcaggatgaagaagc	13	4	11	13	2	2	2	1	1	1	1	2	6	2	4	3	2	4	1	3	2	3	0	rs377641891		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr22:32352743C>T	ENST00000248975.5	+	2	978	c.705C>T	c.(703-705)agC>agT	p.S235S	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	235					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						TCTGGACGAGCGACCAGCAGG	0.542																																					p.S235S	Ovarian(98;460 2060 9263 44007)												.	.			0			c.C705T							C		0,4406		0,0,2203	38	33	34		705	0.3	1	22		34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	YWHAH	NM_003405.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		235/247	32352743	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7533	exon2			GACGAGCGACCAG	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"14-3-3 eta"	113508	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.705C>T	22.37:g.32352743C>T			58	0	0		46	0.07	3	NM_003405	542	0	0		Silent	SNP	ENST00000248975.5	37	CCDS13901.1																																																																																					0.542	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075721.2		NM_003405		T	32352743	C	T	32352743	2	4	137	1	0	0	0	0	0	0	0	1	17528	767	27	1		1	YWHAH	22	32352743	Silent	SNP	C	TCGA-YU-A94I-01A-11D-A435-10		32352743	18951823	94	10178											
MEI1	150365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr22	42126573	42126573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtgaagtgctcgtctggtCcagctgtaactgcttgacac	8	11	11	11	1	1	2	0	2	1	0	3	2	2	2	1	1	4	4	1	1	2	2	rs374534859		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr22:42126573C>T	ENST00000401548.3	+	9	1068	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	MEI1_ENST00000540833.1_Missense_Mutation_p.S83F|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCGTCTGGTCCAGCTGTAAC	0.463																																					p.S343F													.	.			0			c.C1028T							C	PHE/SER	0,3888		0,0,1944	190	170	176		1028	4.9	1	22		176	1,8301		0,1,4150	no	missense	MEI1	NM_152513.3	155	0,1,6094	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging	343/1275	42126573	1,12189	1944	4151	6095	SO:0001583	missense	150365	exon9			TCTGGTCCAGCTG	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1028C>T	22.37:g.42126573C>T	ENSP00000384115:p.Ser343Phe		129	0.007751938	1		95	0.92	87	NM_152513	0		0		Missense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630995	0.67015	0.0	1.2E-4	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.17528	2.27;2.27	5.9	4.88	0.63580	Armadillo-like helical (1);Armadillo-type fold (1);	0.133732	0.51477	N	0.000084	T	0.39462	0.1079	M	0.61703	1.905	0.80722	D	1	D;B	0.89917	1.0;0.058	D;B	0.91635	0.999;0.043	T	0.19031	-1.0318	10	0.54805	T	0.06	.	14.8792	0.70519	0.0:0.9305:0.0:0.0694	.	343;343	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	F	343;83	ENSP00000384115:S343F;ENSP00000444225:S83F	ENSP00000384115:S343F	S	+	2	0	MEI1	40456519	0.998000	0.40836	0.999000	0.59377	0.633000	0.38033	4.110000	0.57831	1.499000	0.48617	0.563000	0.77884	TCC			0.463	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000074937.3		NM_152513		T	42126573	C	T	42126573	3	4	137	1	0	0	0	0	1	0	0	0	9481	855	30	3	1062	3	MEI1	22	42126573	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	9773830	42126573	9177993	95	10179											
TUBGCP6	85378	mdanderson.org	37	chr22	50659727	50659727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccaaagagccgctctgtggGctggctgctcccctcctcca	5	8	10	18	1	1	1	0	0	1	1	4	1	4	1	6	2	2	4	6	2	1	0			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chr22:50659727G>T	ENST00000248846.5	-	16	3165	c.3061C>A	c.(3061-3063)Ccc>Acc	p.P1021T	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.P1021T			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1021					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGCTCTGTGGGCTGGCTGCTC	0.657																																					p.P1021T													.	.			0			c.C3061A												35	39	38					22																	50659727		2203	4300	6503	SO:0001583	missense	85378	exon16			CTGTGGGCTGGCT	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3061C>A	22.37:g.50659727G>T	ENSP00000248846:p.Pro1021Thr		69	0	0		46	0.11	5	NM_020461	53	0	0	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379521	0.24944	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.15017	2.98;2.46	4.2	-3.96	0.04106	.	5.192270	0.00520	N	0.000184	T	0.13286	0.0322	L	0.39898	1.24	0.09310	N	1	B;B;B	0.19445	0.013;0.036;0.019	B;B;B	0.19666	0.025;0.026;0.018	T	0.29822	-0.9999	10	0.66056	D	0.02	.	1.7951	0.03059	0.1695:0.3846:0.156:0.2898	.	1013;1021;1021	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	T	1021	ENSP00000248846:P1021T;ENSP00000397387:P1021T	ENSP00000248846:P1021T	P	-	1	0	TUBGCP6	49001854	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.051000	0.11885	-0.702000	0.05056	-0.882000	0.02950	CCC			0.657	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075004.3		NM_020461		T	50659727	G	T	50659727	3	4	137	1	0	0	0	0	1	0	0	0	16794	1203	42	2	2438	2	TUBGCP6	22	50659727	Missense_Mutation	SNP	G	TCGA-YU-A94I-01A-11D-A435-10	8533154	50659727	644839	96	10180											
POLA1	5422	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chrX	24751914	24751914	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttttccatatgctttcaAagaagtcattgagaaaaagg	15	14	7	5	0	2	2	2	1	0	2	3	3	3	2	1	1	1	1	1	1	6	6			TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chrX:24751914A>G	ENST00000379059.3	+	17	1811	c.1796A>G	c.(1795-1797)aAa>aGa	p.K599R	POLA1_ENST00000379068.3_Missense_Mutation_p.K605R|POLA1_ENST00000493342.1_3'UTR	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	599					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TATGCTTTCAAAGAAGTCATT	0.348																																					p.K599R													.	.			0			c.A1796G												50	48	49					X																	24751914		2202	4298	6500	SO:0001583	missense	5422	exon17			CTTTCAAAGAAGT		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1796A>G	X.37:g.24751914A>G	ENSP00000368349:p.Lys599Arg		475	0.0021052632	1		527	0.46	242	NM_016937	21	0.81	17	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	A	5.402	0.259362	0.10239	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.41400	1.0;1.0	4.81	-1.1	0.09872	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.442345	0.26939	N	0.021732	T	0.25938	0.0632	L	0.46157	1.445	0.46478	D	0.999066	B	0.11235	0.004	B	0.16722	0.016	T	0.06661	-1.0814	10	0.21014	T	0.42	2.9926	2.0435	0.03555	0.522:0.1338:0.0813:0.2629	.	599	P09884	DPOLA_HUMAN	R	605;599	ENSP00000368358:K605R;ENSP00000368349:K599R	ENSP00000368349:K599R	K	+	2	0	POLA1	24661835	1.000000	0.71417	0.002000	0.10522	0.456000	0.32438	3.795000	0.55499	-0.386000	0.07821	0.345000	0.21793	AAA			0.348	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000056111.1		NM_016937		G	24751914	A	G	24751914	3	3	137	1	0	0	0	0	1	0	0	0	12204	14	1	4	1862	4	POLA1	23	24751914	Missense_Mutation	SNP	A	TCGA-YU-A94I-01A-11D-A435-10		24751914	130518646	97	10181											
TAF9B	51616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	77393365	77393365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgatttttctgccttgCgatatccagtaaaaacttaa	11	16	7	7	1	1	1	0	1	1	0	2	2	2	1	2	1	3	2	2	1	5	7	rs372088655		TCGA-YU-A94I-01A-11D-A435-10	TCGA-YU-A94I-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	7f459a1b-ea13-4396-89b1-50daa8059835	713aeca6-9e16-4d10-8691-0227db471977	g.chrX:77393365C>T	ENST00000341864.5	-	4	380	c.286G>A	c.(286-288)Gca>Aca	p.A96T		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	96					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TTCTGCCTTGCGATATCCAGT	0.343																																					p.A96T													.	.			0			c.G286A							C	THR/ALA	1,3834		0,0,1,1632,570	89	78	82		286	4.3	1	X		82	0,6723		0,0,0,2427,1869	no	missense	TAF9B	NM_015975.4	58	0,0,1,4059,2439	TT,TC,T,CC,C		0.0,0.0261,0.0095	possibly-damaging	96/252	77393365	1,10557	2203	4296	6499	SO:0001583	missense	51616	exon4			GCCTTGCGATATC	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.286G>A	X.37:g.77393365C>T	ENSP00000339917:p.Ala96Thr		295	0	0		314	0.44	138	NM_015975	149	0.26	39	B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	ENST00000341864.5	37	CCDS35340.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314409	0.81358	2.61E-4	0.0	ENSG00000187325	ENST00000341864	T	0.61859	0.07	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.70911	0.3278	L	0.59912	1.85	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74272	-0.3719	10	0.72032	D	0.01	-7.2943	13.2635	0.60120	0.0:1.0:0.0:0.0	.	96	Q9HBM6	TAF9B_HUMAN	T	96	ENSP00000339917:A96T	ENSP00000339917:A96T	A	-	1	0	TAF9B	77280021	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.051000	0.76627	1.986000	0.57962	0.600000	0.82982	GCA			0.343	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057308.1		NM_015975		T	77393365	C	T	77393365	3	4	137	1	0	0	0	0	1	0	0	0	15559	768	27	1	485	1	TAF9B	23	77393365	Missense_Mutation	SNP	C	TCGA-YU-A94I-01A-11D-A435-10	52641451	77393365	77877195	98	10182											
TAS1R3	83756	hgsc.bcm.edu	37	chr1	1269674	1269674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgccgtgcagatgggcGccctcctgctctgtgtcctg	2	9	14	16	3	1	1	0	0	1	1	3	1	3	1	5	2	2	2	5	2	0	0	rs147583678		TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr1:1269674G>T	ENST00000339381.5	+	6	2421	c.2389G>T	c.(2389-2391)Gcc>Tcc	p.A797S		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	797					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)		GCAGATGGGCGCCCTCCTGCT	0.637																																					p.A797S													.	.			0			c.G2389T												34	28	30					1																	1269674		2199	4297	6496	SO:0001583	missense	83756	exon6			ATGGGCGCCCTCC	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.2389G>T	1.37:g.1269674G>T	ENSP00000344411:p.Ala797Ser		91	0	0		69	0.06	4	NM_152228	0		0	Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546117	0.27652	.	.	ENSG00000169962	ENST00000339381	D	0.89485	-2.52	4.59	0.66	0.17868	GPCR, family 3, C-terminal (2);	0.893166	0.09793	N	0.755105	D	0.85089	0.5617	L	0.37561	1.115	0.09310	N	0.999997	P	0.45827	0.867	P	0.46172	0.506	T	0.73757	-0.3882	10	0.49607	T	0.09	.	8.494	0.33117	0.42:0.0:0.58:0.0	.	797	Q7RTX0	TS1R3_HUMAN	S	797	ENSP00000344411:A797S	ENSP00000344411:A797S	A	+	1	0	TAS1R3	1259537	0.858000	0.29795	0.258000	0.24420	0.052000	0.14988	1.483000	0.35497	-0.015000	0.14150	0.456000	0.33151	GCC			0.637	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008493.1				T	1269674	G	T	1269674	3	4	138	1	0	0	0	0	1	0	0	0	15587	1087	38	1	2411	1	TAS1R3	1	1269674	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10		1269674	247980947	1	10183											
PLCH2	9651	mdanderson.org	37	chr1	2418772	2418772	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcccagtcacgggtggaCatgtatgcttgggtcctgca	7	11	13	10	1	1	0	1	0	0	0	3	1	3	1	2	3	2	3	2	3	1	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr1:2418772C>T	ENST00000419816.2	+	7	1345	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	PLCH2_ENST00000378488.3_Silent_p.D357D|PLCH2_ENST00000449969.1_Silent_p.D330D|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Silent_p.D357D			O75038	PLCH2_HUMAN	phospholipase C, eta 2	357	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CACGGGTGGACATGTATGCTT	0.632																																					p.D357D													.	.			0			c.C1071T												64	66	65					1																	2418772		2184	4278	6462	SO:0001819	synonymous_variant	9651	exon7			GGTGGACATGTAT	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1071C>T	1.37:g.2418772C>T			62	0	0		39	0.08	3	NM_014638	0		0	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Silent	SNP	ENST00000419816.2	37																																																																																						0.632	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000467514.1		NM_014638		T	2418772	C	T	2418772	2	4	138	1	0	0	0	0	0	0	0	1	12055	477	17	3		3	PLCH2	1	2418772	Silent	SNP	C	TCGA-YU-AA4L-01A-11D-A435-10	1149098	2418772	246831849	2	10184											
BSND	7809	mdanderson.org	37	chr1	55470729	55470729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgactctgactttcaagGcatcctctccccaaaggcca	9	10	7	15	0	3	2	1	2	2	0	5	2	4	2	4	2	1	2	4	2	2	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr1:55470729G>A	ENST00000371265.4	+	2	466	c.212G>A	c.(211-213)gGc>gAc	p.G71D		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	71					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GACTTTCAAGGCATCCTCTCC	0.607																																					p.G71D	Ovarian(191;1657 2078 22894 42033 48899)												.	.			0			c.G212A												110	91	97					1																	55470729		2203	4300	6503	SO:0001583	missense	7809	exon2			TTCAAGGCATCCT	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.212G>A	1.37:g.55470729G>A	ENSP00000360312:p.Gly71Asp		44	0	0		42	0.07	3	NM_057176	0		0	Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	CCDS602.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125007	0.20959	.	.	ENSG00000162399	ENST00000371265	T	0.64438	-0.1	4.08	1.98	0.26296	.	0.127757	0.31685	N	0.007225	T	0.51787	0.1695	M	0.68317	2.08	0.27544	N	0.95069	B	0.23540	0.087	B	0.25759	0.063	T	0.33343	-0.9872	10	0.16420	T	0.52	-19.0983	5.3911	0.16244	0.1166:0.2036:0.6798:0.0	.	71	Q8WZ55	BSND_HUMAN	D	71	ENSP00000360312:G71D	ENSP00000360312:G71D	G	+	2	0	BSND	55243317	1.000000	0.71417	0.868000	0.34077	0.537000	0.34900	1.250000	0.32850	0.820000	0.34516	0.297000	0.19635	GGC			0.607	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000022213.4		NM_057176		A	55470729	G	A	55470729	3	1	138	1	0	0	0	0	1	0	0	0	1533	1203	42	2	218	2	BSND	1	55470729	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	53051957	55470729	193779892	3	10185											
GBP3	2635	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	89477486	89477486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagttcttcatatagaCttcagtggcctccctctcac	10	12	7	12	0	4	2	3	0	2	2	6	3	5	2	2	1	0	1	2	1	3	5			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr1:89477486C>T	ENST00000370481.4	-	7	1313	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	416					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)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCATATAGACTTCAGTGGCC	0.478																																					p.V365I													.	.			0			c.G1093A												61	48	53					1																	89477486		2189	3938	6127	SO:0001583	missense	2635	exon7			TATAGACTTCAGT	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1093G>A	1.37:g.89477486C>T	ENSP00000359512:p.Val365Ile		218	0	0		280	0.28	79	NM_018284	2	0	0	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	CCDS717.2	.	.	.	.	.	.	.	.	.	.	C	1.239	-0.621870	0.03636	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.02787	4.16	3.84	-7.69	0.01263	Guanylate-binding protein, C-terminal (3);	1.064250	0.07188	N	0.855266	T	0.00552	0.0018	L	0.28274	0.84	0.09310	N	1	B;B	0.16166	0.016;0.006	B;B	0.23419	0.046;0.029	T	0.44620	-0.9316	10	0.21014	T	0.42	.	6.5913	0.22647	0.0873:0.2217:0.0868:0.6042	.	231;365	F6X827;Q9H0R5	.;GBP3_HUMAN	I	333;365;365	ENSP00000359512:V365I	ENSP00000235878:V365I	V	-	1	0	GBP3	89250074	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.460000	0.00999	-3.279000	0.00197	-0.507000	0.04495	GTC			0.478	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313541.3		NM_018284		T	89477486	C	T	89477486	3	4	138	1	0	0	0	0	1	0	0	0	6289	565	20	3	714	3	GBP3	1	89477486	Missense_Mutation	SNP	C	TCGA-YU-AA4L-01A-11D-A435-10	34006757	89477486	159773135	4	10186											
DBT	1629	mdanderson.org	37	chr1	100680387	100680387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcacctttaagaagaaagGcataaaggagagtttaattc	16	11	8	6	0	1	3	1	0	1	3	3	4	1	3	1	2	0	2	1	2	6	6			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr1:100680387G>T	ENST00000370132.4	-	7	938	c.925C>A	c.(925-927)Cct>Act	p.P309T	DBT_ENST00000370131.3_Missense_Mutation_p.P309T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	309					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)		AAGAAGAAAGGCATAAAGGAG	0.358																																					p.P309T													.	.			0			c.C925A												74	72	73					1																	100680387		2203	4300	6503	SO:0001583	missense	1629	exon7			AGAAAGGCATAAA	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.925C>A	1.37:g.100680387G>T	ENSP00000359151:p.Pro309Thr		32	0	0		43	0.07	3	NM_001918	10	0	0	B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507873	0.85282	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.41758	0.99;0.99	5.54	5.54	0.83059	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.958;1.0	T	0.76889	-0.2792	10	0.87932	D	0	-13.7976	19.4948	0.95067	0.0:0.0:1.0:0.0	.	128;309	F5H1F9;P11182	.;ODB2_HUMAN	T	128;309;309	ENSP00000359151:P309T;ENSP00000359150:P309T	ENSP00000359150:P309T	P	-	1	0	DBT	100452975	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.615000	0.88500	0.655000	0.94253	CCT			0.358	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030101.2		NM_001918		T	100680387	G	T	100680387	3	4	138	1	0	0	0	0	1	0	0	0	4260	1203	42	2	543	2	DBT	1	100680387	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	11202901	100680387	148570234	5	10187											
FLG	2312	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	152283719	152283719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgagtttgtctgcttgcacTtctggatcctgactgcccat	6	14	9	12	1	2	1	0	1	2	0	3	3	3	2	2	1	3	3	2	1	0	3			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr1:152283719T>G	ENST00000368799.1	-	3	3678	c.3643A>C	c.(3643-3645)Agt>Cgt	p.S1215R	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	1215	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)			CTGCTTGCACTTCTGGATCCT	0.552									Ichthyosis																												p.S1215R													FLG,NS,carcinoma,0,2	FLG	0	2	0			c.A3643C												355	350	351					1																	152283719		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTGCACTTCTGGA	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.3643A>C	1.37:g.152283719T>G	ENSP00000357789:p.Ser1215Arg		83	0	0		94	0.07	7	NM_002016	2	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	2.866	-0.235137	0.05983	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	0.835	-0.724	0.11177	.	.	.	.	.	T	0.00784	0.0026	M	0.73962	2.25	0.09310	N	1	P	0.39520	0.676	B	0.39706	0.307	T	0.43442	-0.9391	9	0.15952	T	0.53	.	3.4165	0.07377	0.0:0.6402:0.0:0.3598	.	1215	P20930	FILA_HUMAN	R	1215	ENSP00000357789:S1215R	ENSP00000357789:S1215R	S	-	1	0	FLG	150550343	.	.	0.002000	0.10522	0.123000	0.20343	.	.	-0.179000	0.10654	0.156000	0.16432	AGT			0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033742.1		NM_002016		G	152283719	T	G	152283719	3	3	138	1	0	0	0	0	1	0	0	0	5935	1609	56	4	8546	4	FLG	1	152283719	Missense_Mutation	SNP	T	TCGA-YU-AA4L-01A-11D-A435-10	51603332	152283719	96966902	6	10188											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgattttgagaaactaaTatgggagatttcaggaggca	14	11	13	3	0	1	3	1	2	0	2	1	7	1	5	0	4	1	1	0	4	3	5			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					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)			GAGAAACTAATATGGGAGATT	0.473																																					p.I777T													.	ZC3H11A	71		0			c.T2330C												55	56	56					1																	203821424		2203	4300	6503	SO:0001583	missense	9877	exon20			AACTAATATGGGA		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.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr		176	0.0056818182	1		265	0.02	4	NM_014827	106	0	0	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA			0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087471.3		NM_014827		C	203821424	T	C	203821424	3	2	138	1	0	0	0	0	1	0	0	0	17583	1406	49	4	2392	4	ZC3H11A	1	203821424	Missense_Mutation	SNP	T	TCGA-YU-AA4L-01A-11D-A435-10	51537705	203821424	45429197	7	10189											
LHCGR	3973	mdanderson.org	37	chr2	48982764	48982764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcggcggctgcagcAgcagcagcagcttcagcagc	8	4	16	13	2	1	0	1	0	0	0	1	0	1	0	0	3	9	9	0	3	0	1	rs4539842		TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr2:48982764A>T	ENST00000294954.7	-	1	68	c.47T>A	c.(46-48)cTg>cAg	p.L16Q	LHCGR_ENST00000401907.1_Missense_Mutation_p.L16Q|LHCGR_ENST00000403273.1_Missense_Mutation_p.L16Q|LHCGR_ENST00000405626.1_Missense_Mutation_p.L16Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.L16Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	16					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	cggctgcagcagcagcagcag	0.721																																					p.L16Q													.	.			0			c.T47A												1	3	2					2																	48982764		911	1841	2752	SO:0001583	missense	3973	exon1			TGCAGCAGCAGCA		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.47T>A	2.37:g.48982764A>T	ENSP00000294954:p.Leu16Gln		8	0	0		12	0.17	2	NM_000233	0		0	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191104	0.58017	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	4.18	4.18	0.49190	.	1.158800	0.06471	N	0.731104	D	0.83594	0.5288	L	0.29908	0.895	0.28253	N	0.925194	D	0.55172	0.97	P	0.51453	0.67	T	0.72527	-0.4266	9	.	.	.	.	9.5009	0.39017	1.0:0.0:0.0:0.0	rs4539842	16	P22888	LSHR_HUMAN	Q	16	ENSP00000344301:L16Q;ENSP00000294954:L16Q;ENSP00000386033:L16Q;ENSP00000385847:L16Q;ENSP00000385406:L16Q	.	L	-	2	0	LHCGR	48836268	0.561000	0.26578	0.862000	0.33874	0.243000	0.25628	1.821000	0.39041	1.736000	0.51660	0.421000	0.28195	CTG			0.721	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251364.4		NM_000233.3		T	48982764	A	T	48982764	3	4	138	1	0	0	0	0	1	0	0	0	8777	188	7	5	2096	5	LHCGR	2	48982764	Missense_Mutation	SNP	A	TCGA-YU-AA4L-01A-11D-A435-10		48982764	194216609	8	10190											
SPRED2	200734	mdanderson.org	37	chr2	65541091	65541091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtctgaggagtccacgtaGgggtagttgtagtcatgctt	9	12	14	6	1	2	1	1	1	1	0	3	2	3	2	1	3	1	5	1	3	4	5			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr2:65541091G>T	ENST00000356388.4	-	6	990	c.801C>A	c.(799-801)ccC>ccA	p.P267P	SPRED2_ENST00000474228.1_5'Flank|SPRED2_ENST00000443619.2_Silent_p.P264P	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	267					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						AGTCCACGTAGGGGTAGTTGT	0.677																																					p.P267P													.	.			0			c.C801A												62	59	60					2																	65541091		2203	4300	6503	SO:0001819	synonymous_variant	200734	exon6			CACGTAGGGGTAG	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.801C>A	2.37:g.65541091G>T			22	0	0		28	0.11	3	NM_181784	23	0	0	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	CCDS33211.1																																																																																					0.677	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000327632.1				T	65541091	G	T	65541091	2	4	138	1	0	0	0	0	0	0	0	1	15116	987	35	3		3	SPRED2	2	65541091	Silent	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	16558327	65541091	177658282	9	10191											
ARHGAP25	9938	mdanderson.org	37	chr2	69002529	69002529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagctctactactacaagGatgaagaggacacgaagccc	15	5	10	11	1	1	2	0	1	1	1	1	5	1	4	1	2	6	2	1	2	6	3			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr2:69002529G>T	ENST00000295381.3	+	2	657	c.238G>T	c.(238-240)Gat>Tat	p.D80Y	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D73Y|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D73Y|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D73Y|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.D54Y|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D80Y|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D80Y	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	80	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTACTACAAGGATGAAGAGGA	0.572																																					p.D80Y													.	.			0			c.G238T												91	96	94					2																	69002529		2203	4300	6503	SO:0001583	missense	9938	exon2			TACAAGGATGAAG	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.238G>T	2.37:g.69002529G>T	ENSP00000295381:p.Asp80Tyr		44	0	0		46	0.09	4	NM_001166277	4	0	0	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	G	31	5.086308	0.94100	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.106421	0.64402	D	0.000006	T	0.48370	0.1496	M	0.84433	2.695	0.80722	D	1	D;P;D;D;D;D;P	0.89917	1.0;0.865;0.999;0.999;0.999;1.0;0.796	D;P;D;D;D;D;P	0.72338	0.977;0.784;0.969;0.969;0.969;0.97;0.748	T	0.53613	-0.8414	10	0.87932	D	0	.	18.1317	0.89604	0.0:0.0:1.0:0.0	.	80;54;80;73;73;73;80	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	Y	54;80;80;80;73;73;73;73;64	ENSP00000439917:D54Y;ENSP00000295381:D80Y;ENSP00000386911:D80Y;ENSP00000420583:D80Y;ENSP00000386863:D73Y;ENSP00000386241:D73Y;ENSP00000417139:D73Y	ENSP00000295381:D80Y	D	+	1	0	ARHGAP25	68856033	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.461000	0.97646	2.613000	0.88420	0.563000	0.77884	GAT			0.572	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_014882		T	69002529	G	T	69002529	3	4	138	1	0	0	0	0	1	0	0	0	874	1174	41	3	284	3	ARHGAP25	2	69002529	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	3461438	69002529	174196844	10	10192											
UBR3	130507	mdanderson.org	37	chr2	170734086	170734086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggacttacatatcctgaGgataagcttgtatatggtgt	10	15	10	6	0	1	1	0	1	1	0	2	3	2	3	1	3	2	2	1	3	5	6			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr2:170734086G>T	ENST00000272793.5	+	4	977	c.927G>T	c.(925-927)gaG>gaT	p.E309D	UBR3_ENST00000418381.1_Missense_Mutation_p.E309D			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	309					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						CATATCCTGAGGATAAGCTTG	0.358																																					p.E309D													.	.			0			c.G927T												217	190	198					2																	170734086		692	1591	2283	SO:0001583	missense	130507	exon4			TCCTGAGGATAAG	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.927G>T	2.37:g.170734086G>T	ENSP00000272793:p.Glu309Asp		33	0	0		50	0.06	3	NM_172070	1	0	0	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	G	13.15	2.151042	0.38021	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.54866	0.55;0.55	5.58	3.78	0.43462	.	.	.	.	.	T	0.57184	0.2036	L	0.44542	1.39	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.51849	-0.8653	9	0.14252	T	0.57	.	8.636	0.33948	0.2893:0.0:0.7107:0.0	.	309	Q6ZT12	UBR3_HUMAN	D	309	ENSP00000272793:E309D;ENSP00000396068:E309D	ENSP00000272793:E309D	E	+	3	2	UBR3	170442332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.510000	0.60455	0.722000	0.32252	0.591000	0.81541	GAG			0.358	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255290.2		NM_172070		T	170734086	G	T	170734086	3	4	138	1	0	0	0	0	1	0	0	0	16927	991	35	3	941	3	UBR3	2	170734086	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	101731557	170734086	72465287	11	10193											
DLX2	1746	broad.mit.edu	37	chr2	172967030	172967030	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtagggcgagcccccGccgccgccgccgcccgccgg	2	2	16	21	10	0	0	0	0	0	0	0	1	0	0	8	2	2	1	8	2	1	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr2:172967030G>C	ENST00000234198.4	-	1	598	c.237C>G	c.(235-237)ggC>ggG	p.G79G	AC104801.1_ENST00000448117.1_lincRNA|DLX2_ENST00000466293.2_Silent_p.G79G	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	79	Poly-Gly.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCGAgcccccgccgccgccgc	0.677																																					p.G79G	GBM(188;775 2993 11256 23072)												.	DLX2	29		0			c.C237G												20	23	22					2																	172967030		2191	4286	6477	SO:0001819	synonymous_variant	1746	exon1			GCCCCCGCCGCCG	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.237C>G	2.37:g.172967030G>C			68	0.0735294118	5		80	0.05	4	NM_004405	0		0	B4DMK4|B7ZA14	Silent	SNP	ENST00000234198.4	37	CCDS2248.1																																																																																					0.677	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255368.3				C	172967030	G	C	172967030	2	2	138	1	0	0	0	0	0	0	0	1	4576	1074	38	5		5	DLX2	2	172967030	Silent	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	2232944	172967030	70232343	12	10194											
SLC6A20	54716	mdanderson.org	37	chr3	45814060	45814060	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgtgaggcccctgatgagGtagatgatgagcacgcaata	12	7	14	8	2	0	6	0	5	0	1	0	6	0	6	2	2	2	3	2	2	3	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr3:45814060G>T	ENST00000358525.4	-	5	745	c.630C>A	c.(628-630)taC>taA	p.Y210*	SLC6A20_ENST00000456124.2_Nonsense_Mutation_p.Y210*|SLC6A20_ENST00000353278.4_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	210					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)		CCCTGATGAGGTAGATGATGA	0.617																																					p.Y210X													.	.			0			c.C630A												91	96	94					3																	45814060		2103	4216	6319	SO:0001587	stop_gained	54716	exon5			GATGAGGTAGATG	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.630C>A	3.37:g.45814060G>T	ENSP00000346298:p.Tyr210*		32	0	0		45	0.07	3	NM_020208	0		0	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Nonsense_Mutation	SNP	ENST00000358525.4	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363930	0.95877	.	.	ENSG00000163817	ENST00000358525;ENST00000456124;ENST00000413781	.	.	.	5.33	4.25	0.50352	.	0.139591	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	12.7077	0.57070	0.1392:0.0:0.8608:0.0	.	.	.	.	X	210;210;163	.	ENSP00000346298:Y210X	Y	-	3	2	SLC6A20	45789064	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	4.154000	0.58125	2.487000	0.83934	0.563000	0.77884	TAC			0.617	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257318.3		NM_020208		T	45814060	G	T	45814060	4	4	138	1	0	0	0	0	0	1	0	0	14707	1256	44	3	1176	3	SLC6A20	3	45814060	Nonsense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10		45814060	152208370	13	10195											
RYK	6259	broad.mit.edu	37	chr3	133896871	133896871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtaaggcaatatcaccatggGcttttctccttcttctatac	9	15	6	11	0	4	0	1	0	3	0	5	0	4	0	2	2	1	3	2	2	5	8			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr3:133896871G>A	ENST00000427044.2	-	12	1262	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	RYK_ENST00000296084.4_Missense_Mutation_p.P408S			P34925	RYK_HUMAN	receptor-like tyrosine kinase	404					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						ATCACCATGGGCTTTTCTCCT	0.348																																					.													.	RYK	37		0			.												90	80	83					3																	133896871		1805	4067	5872	SO:0001583	missense	6259	.			CCATGGGCTTTTC	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.652C>T	3.37:g.133896871G>A	ENSP00000399527:p.Pro218Ser		154	0	0		189	0.03	6	.	193	0.07	13	Q04696	Missense_Mutation	SNP	ENST00000427044.2	37		.	.	.	.	.	.	.	.	.	.	G	29.9	5.046977	0.93740	.	.	ENSG00000163785	ENST00000296084;ENST00000427044	T;D	0.89123	0.78;-2.47	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.050365	0.85682	N	0.000000	D	0.95037	0.8393	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.994	D	0.94793	0.7964	10	0.54805	T	0.06	-4.9281	19.5071	0.95124	0.0:0.0:1.0:0.0	.	404;407	P34925;P34925-2	RYK_HUMAN;.	S	408;218	ENSP00000296084:P408S;ENSP00000399527:P218S	ENSP00000296084:P408S	P	-	1	0	RYK	135379561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.617000	0.88574	0.557000	0.71058	CCC			0.348	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			rescued with RNA-seq	NM_001005861		A	133896871	G	A	133896871	3	1	138	1	0	0	0	0	1	0	0	0	13790	1203	42	2	624	2	RYK	3	133896871	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	88082811	133896871	64125559	14	10196											
GFM1	85476	mdanderson.org	37	chr3	158363548	158363548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgagtcctttactacactgGcagaattgcaaagatgcatg	13	10	9	9	1	0	2	0	0	0	2	1	3	1	2	1	1	4	3	1	1	4	4			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr3:158363548G>T	ENST00000486715.1	+	2	569	c.212G>T	c.(211-213)gGc>gTc	p.G71V	GFM1_ENST00000264263.5_Missense_Mutation_p.G71V|GFM1_ENST00000478576.1_Missense_Mutation_p.G71V	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TACTACACTGGCAGAATTGCA	0.333																																					p.G71V													.	.			0			c.G212T												123	125	124					3																	158363548		2203	4300	6503	SO:0001583	missense	85476	exon2			ACACTGGCAGAAT	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.212G>T	3.37:g.158363548G>T	ENSP00000419038:p.Gly71Val		32	0	0		55	0.05	3	NM_024996	12	0	0		Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081441	0.94050	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.79247	-1.25;-1.25;-1.25	5.54	5.54	0.83059	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.94860	0.8339	H	0.99967	5.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97580	1.0110	10	0.87932	D	0	-10.4926	19.5645	0.95388	0.0:0.0:1.0:0.0	.	71;71	Q96RP9;C9IZ01	EFGM_HUMAN;.	V	71	ENSP00000419038:G71V;ENSP00000418755:G71V;ENSP00000264263:G71V	ENSP00000264263:G71V	G	+	2	0	GFM1	159846242	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	9.117000	0.94347	2.599000	0.87857	0.650000	0.86243	GGC			0.333	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352271.1		NM_024996		T	158363548	G	T	158363548	3	4	138	1	0	0	0	0	1	0	0	0	6355	1203	42	2	218	2	GFM1	3	158363548	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	24466677	158363548	39658882	15	10197											
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	126372841	126372841	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaggtcctgccaccagttAtttcagtctgagcactgctg	8	11	9	13	0	2	1	1	1	1	0	3	1	3	1	3	1	3	3	3	1	1	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr4:126372841A>G	ENST00000394329.3	+	9	10683	c.10670A>G	c.(10669-10671)tAt>tGt	p.Y3557C	FAT4_ENST00000335110.5_Missense_Mutation_p.Y1855C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3557	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCACCAGTTATTTCAGTCTG	0.488																																					p.Y3557C													.	.			0			c.A10670G												117	119	118					4																	126372841		2203	4300	6503	SO:0001583	missense	79633	exon9			CCAGTTATTTCAG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10670A>G	4.37:g.126372841A>G	ENSP00000377862:p.Tyr3557Cys		102	0	0		95	0.33	31	NM_024582	0		0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740038	0.30865	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51817	0.69;0.69	5.91	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.000000	0.31821	U	0.007003	T	0.68183	0.2973	M	0.79926	2.475	0.58432	D	0.999995	B;D;D	0.89917	0.047;1.0;1.0	B;D;D	0.87578	0.039;0.998;0.998	T	0.68961	-0.5271	10	0.42905	T	0.14	.	12.2462	0.54572	0.8725:0.0:0.0:0.1275	.	1855;3557;3557	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	C	3557;1855	ENSP00000377862:Y3557C;ENSP00000335169:Y1855C	ENSP00000335169:Y1855C	Y	+	2	0	FAT4	126592291	1.000000	0.71417	0.047000	0.18901	0.026000	0.11368	7.337000	0.79256	1.010000	0.39314	0.533000	0.62120	TAT			0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256765.2		NM_024582		G	126372841	A	G	126372841	3	3	138	1	0	0	0	0	1	0	0	0	5705	449	16	4	10704	4	FAT4	4	126372841	Missense_Mutation	SNP	A	TCGA-YU-AA4L-01A-11D-A435-10		126372841	64781435	16	10198											
MCC	4163	broad.mit.edu;mdanderson.org	37	chr5	112418571	112418571	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctattcagccgttcTgtttccacctcaaactctct	7	14	3	17	1	5	0	3	0	2	0	7	0	6	0	5	0	2	2	5	0	2	4			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr5:112418571T>G	ENST00000302475.4	-	9	1763	c.1200A>C	c.(1198-1200)acA>acC	p.T400T	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.T337T|MCC_ENST00000408903.3_Silent_p.T590T	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	400					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)		TCAGCCGTTCTGTTTCCACCT	0.468																																					p.T590T													.	MCC	234		0			c.A1770C												252	207	222					5																	112418571		2202	4300	6502	SO:0001819	synonymous_variant	4163	exon11			CCGTTCTGTTTCC		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.1200A>C	5.37:g.112418571T>G			38	0	0		30	0.17	5	NM_001085377	13	0.08	1	D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	CCDS4111.1																																																																																					0.468	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000250736.3		NM_001085377		G	112418571	T	G	112418571	2	3	138	1	0	0	0	0	0	0	0	1	9389	1567	55	4		4	MCC	5	112418571	Silent	SNP	T	TCGA-YU-AA4L-01A-11D-A435-10		112418571	68496689	17	10199											
PRR16	51334	mdanderson.org	37	chr5	120021895	120021895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctgtgaagtgtgaaGaccccaaaagggtggttcca	12	8	12	9	0	0	4	0	3	0	1	1	4	1	4	4	2	0	1	4	2	4	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr5:120021895G>T	ENST00000407149.2	+	2	615	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	PRR16_ENST00000505123.1_Missense_Mutation_p.D66Y|PRR16_ENST00000446965.1_Missense_Mutation_p.D66Y|PRR16_ENST00000379551.2_Missense_Mutation_p.D113Y			Q569H4	LARGN_HUMAN	proline rich 16	136	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GAAGTGTGAAGACCCCAAAAG	0.507																																					p.D113Y													.	.			0			c.G337T												104	91	95					5																	120021895		2203	4300	6503	SO:0001583	missense	51334	exon3			TGTGAAGACCCCA	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.406G>T	5.37:g.120021895G>T	ENSP00000385118:p.Asp136Tyr		34	0	0		35	0.09	3	NM_016644	4	0	0	D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37		.	.	.	.	.	.	.	.	.	.	G	18.46	3.629584	0.67015	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.71	5.71	0.89125	.	0.281428	0.37669	N	0.001986	T	0.62636	0.2444	L	0.48642	1.525	0.45129	D	0.998144	D;D	0.76494	0.989;0.999	P;D	0.68483	0.858;0.958	T	0.57353	-0.7826	9	.	.	.	-1.9348	18.6986	0.91611	0.0:0.0:1.0:0.0	.	136;113	Q569H4;Q569H4-3	PRR16_HUMAN;.	Y	136;113;66;66;66	ENSP00000385118:D136Y;ENSP00000368869:D113Y;ENSP00000421256:D66Y;ENSP00000423446:D66Y;ENSP00000405491:D66Y	.	D	+	1	0	PRR16	120049794	1.000000	0.71417	0.993000	0.49108	0.728000	0.41692	3.618000	0.54188	2.709000	0.92574	0.644000	0.83932	GAC			0.507	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000371059.1		NM_016644		T	120021895	G	T	120021895	3	4	138	1	0	0	0	0	1	0	0	0	12609	942	33	3	343	3	PRR16	5	120021895	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	7603324	120021895	60893365	18	10200											
SIL1	64374	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chr5	138283066	138283066	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatctcgcaccagccctGttcccacaggcctggcagga	7	7	11	16	2	1	1	0	1	1	0	3	2	2	2	4	3	1	3	4	3	0	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr5:138283066G>A	ENST00000394817.2	-	10	1265	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	SIL1_ENST00000509534.1_Nonsense_Mutation_p.Q383*|SIL1_ENST00000265195.5_Nonsense_Mutation_p.Q376*|SIL1_ENST00000515008.1_5'UTR	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	376					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CACCAGCCCTGTTCCCACAGG	0.652									Marinesco-Sjgren syndrome																												p.Q376X													.	.			0			c.C1126T												60	49	52					5																	138283066		2203	4300	6503	SO:0001587	stop_gained	64374	exon11	Familial Cancer Database	Marinesco-Sjogren syndrome	AGCCCTGTTCCCA	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1126C>T	5.37:g.138283066G>A	ENSP00000378294:p.Gln376*		149	0	0		91	0.1	9	NM_001037633	71	0.06	4	D3DQC2|Q8N2L3	Nonsense_Mutation	SNP	ENST00000394817.2	37	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174701	0.94807	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	.	.	.	4.84	4.84	0.62591	.	0.122584	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-20.1681	16.8731	0.86044	0.0:0.0:1.0:0.0	.	.	.	.	X	376;376;383	.	ENSP00000265195:Q376X	Q	-	1	0	SIL1	138310965	1.000000	0.71417	0.999000	0.59377	0.615000	0.37417	4.577000	0.60922	2.407000	0.81776	0.462000	0.41574	CAG			0.652	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251319.1		NM_022464		A	138283066	G	A	138283066	4	1	138	1	0	0	0	0	0	1	0	0	14344	1386	48	3	263	3	SIL1	5	138283066	Nonsense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	18261171	138283066	42632194	19	10201											
FTSJD2	23070	mdanderson.org	37	chr6	37442325	37442325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagatctacacatgggatgGccgccagtcagaccgctgga	10	6	12	13	2	2	2	1	0	1	2	2	4	2	4	4	3	1	1	4	3	1	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr6:37442325G>T	ENST00000373451.4	+	18	2011	c.1847G>T	c.(1846-1848)gGc>gTc	p.G616V		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	616					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										ACATGGGATGGCCGCCAGTCA	0.527																																					p.G616V													.	.			0			c.G1847T												70	66	67					6																	37442325		2203	4300	6503	SO:0001583	missense	23070	exon18			GGGATGGCCGCCA	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1847G>T	6.37:g.37442325G>T	ENSP00000362550:p.Gly616Val		54	0	0		52	0.06	3	NM_015050	49	0	0	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993616	0.93167	.	.	ENSG00000137200	ENST00000373451;ENST00000373420	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	M	0.80616	2.505	0.80722	D	1	P	0.45474	0.859	P	0.46825	0.528	T	0.71886	-0.4457	9	0.66056	D	0.02	-23.1202	18.9492	0.92635	0.0:0.0:1.0:0.0	.	616	Q8N1G2	MTR1_HUMAN	V	616;23	.	ENSP00000362519:G23V	G	+	2	0	FTSJD2	37550303	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.623000	0.98386	2.825000	0.97269	0.655000	0.94253	GGC			0.527	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040408.1		NM_015050		T	37442325	G	T	37442325	3	4	138	1	0	0	0	0	1	0	0	0	6104	1203	42	2	1913	2	FTSJD2	6	37442325	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10		37442325	133672742	20	10202											
NCAPG2	54892	broad.mit.edu	37	chr7	158478886	158478886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtattttccctgaagccTttttccaagctctgaaataa	11	14	5	11	0	1	2	0	2	1	0	3	2	3	2	4	0	2	2	4	0	5	6			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr7:158478886T>C	ENST00000409423.1	-	9	987	c.815A>G	c.(814-816)aAg>aGg	p.K272R	NCAPG2_ENST00000356309.3_Missense_Mutation_p.K272R|NCAPG2_ENST00000275830.10_Missense_Mutation_p.K64R|NCAPG2_ENST00000449727.2_Missense_Mutation_p.K272R|NCAPG2_ENST00000409339.3_Missense_Mutation_p.K272R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	272					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)		CCCTGAAGCCTTTTTCCAAGC	0.244																																					p.K272R													.	NCAPG2	80		0			c.A815G												32	32	32					7																	158478886		1779	4041	5820	SO:0001583	missense	54892	exon8			GAAGCCTTTTTCC	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.815A>G	7.37:g.158478886T>C	ENSP00000386569:p.Lys272Arg		221	0.0045248869	1		317	0.01	4	NM_017760	37	0.03	1	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.89|19.89	3.911524|3.911524	0.72983|0.72983	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727|ENST00000441982	T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;0.95|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71609|0.71609	0.3360|0.3360	M|M	0.68317|0.68317	2.08|2.08	0.51482|0.51482	D|D	0.999927|0.999927	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.998;1.0|.	T|T	0.71679|0.71679	-0.4520|-0.4520	10|5	0.46703|.	T|.	0.11|.	-32.5969|-32.5969	14.001|14.001	0.64433|0.64433	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	272;64;272|.	Q86XI2-2;E7EUH9;Q86XI2|.	.;.;CNDG2_HUMAN|.	R|G	272;272;64;272;272|74	ENSP00000348657:K272R;ENSP00000386569:K272R;ENSP00000275830:K64R;ENSP00000387007:K272R;ENSP00000388326:K272R|.	ENSP00000275830:K64R|.	K|R	-|-	2|1	0|2	NCAPG2|NCAPG2	158171647|158171647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.407000|5.407000	0.66363|0.66363	2.107000|2.107000	0.64212|0.64212	0.533000|0.533000	0.62120|0.62120	AAG|AGG			0.244	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327111.1		NM_017760		C	158478886	T	C	158478886	3	2	138	1	0	0	0	0	1	0	0	0	10225	1609	56	4	2700	4	NCAPG2	7	158478886	Missense_Mutation	SNP	T	TCGA-YU-AA4L-01A-11D-A435-10		158478886	659777	21	10203											
TGS1	96764	mdanderson.org	37	chr8	56723593	56723593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcctcagcccaccttGgggagggccagactatgcca	7	9	12	13	0	1	1	1	0	0	1	2	2	2	2	5	3	2	1	5	3	1	3			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr8:56723593G>T	ENST00000260129.5	+	11	2774	c.2297G>T	c.(2296-2298)tGg>tTg	p.W766L		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	766	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AGCCCACCTTGGGGAGGGCCA	0.428																																					p.W766L	Esophageal Squamous(34;275 823 4842 34837 48447)												.	.			0			c.G2297T												153	152	153					8																	56723593		2203	4300	6503	SO:0001583	missense	96764	exon11			CACCTTGGGGAGG	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2297G>T	8.37:g.56723593G>T	ENSP00000260129:p.Trp766Leu		31	0	0		42	0.07	3	NM_024831	48	0	0	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994015	0.93167	.	.	ENSG00000137574	ENST00000260129	T	0.44881	0.91	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82410	-0.0471	10	0.87932	D	0	-7.1414	18.8733	0.92325	0.0:0.0:1.0:0.0	.	766	Q96RS0	TGS1_HUMAN	L	766	ENSP00000260129:W766L	ENSP00000260129:W766L	W	+	2	0	TGS1	56886147	1.000000	0.71417	0.995000	0.50966	0.896000	0.52359	9.823000	0.99369	2.450000	0.82876	0.655000	0.94253	TGG			0.428	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378152.1		NM_024831		T	56723593	G	T	56723593	3	4	138	1	0	0	0	0	1	0	0	0	15860	1357	47	3	2339	3	TGS1	8	56723593	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10		56723593	89640429	22	10204											
PLEC	5339	mdanderson.org	37	chr8	144996006	144996006	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccgcactcaggatgccGgcctcctgcagcctctgagc	5	8	10	18	2	2	1	1	1	1	0	5	2	5	2	6	2	4	2	6	2	0	0	rs376058402		TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr8:144996006G>T	ENST00000322810.4	-	32	8563	c.8394C>A	c.(8392-8394)gcC>gcA	p.A2798A	PLEC_ENST00000436759.2_Silent_p.A2688A|PLEC_ENST00000527096.1_Silent_p.A2684A|PLEC_ENST00000357649.2_Silent_p.A2665A|PLEC_ENST00000354589.3_Silent_p.A2661A|PLEC_ENST00000354958.2_Silent_p.A2639A|PLEC_ENST00000398774.2_Silent_p.A2629A|PLEC_ENST00000356346.3_Silent_p.A2647A|PLEC_ENST00000345136.3_Silent_p.A2661A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2798	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						TCAGGATGCCGGCCTCCTGCA	0.697																																					p.A2798A													.	.			0			c.C8394A												14	17	16					8																	144996006		2120	4217	6337	SO:0001819	synonymous_variant	5339	exon32			GATGCCGGCCTCC	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.8394C>A	8.37:g.144996006G>T			26	0	0		18	0.11	2	NM_201380	30	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																					0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		T	144996006	G	T	144996006	2	4	138	1	0	0	0	0	0	0	0	1	12069	1103	39	1		1	PLEC	8	144996006	Silent	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	88272413	144996006	1368016	23	10205											
FOXE1	2304	bcgsc.ca	37	chr9	100616400	100616400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgccatggccatcgcgcaCgcgcccgagcgccgcctcac	6	4	11	20	8	1	0	1	0	0	0	3	1	1	0	5	1	1	1	5	1	0	0			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr9:100616400C>G	ENST00000375123.3	+	1	865	c.204C>G	c.(202-204)caC>caG	p.H68Q		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	68					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CCATCGCGCACGCGCCCGAGC	0.706																																					p.H68Q													.	FOXE1	19		0			c.C204G												18	17	18					9																	100616400		2186	4286	6472	SO:0001583	missense	2304	exon1			CGCGCACGCGCCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"Forkhead boxes"	3806	protein-coding gene	gene with protein product		602617	"forkhead box E2"	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.204C>G	9.37:g.100616400C>G	ENSP00000364265:p.His68Gln		34	0.0294117647	1		67	0.42	28	NM_004473	0		0	O75765|Q5T109|Q99526	Missense_Mutation	SNP	ENST00000375123.3	37	CCDS35078.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552578	0.45487	.	.	ENSG00000178919	ENST00000375123	D	0.95272	-3.66	2.95	2.95	0.34219	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.070231	0.53938	D	0.000047	D	0.85758	0.5771	N	0.02539	-0.55	0.46499	D	0.999076	B	0.33238	0.403	B	0.43658	0.426	T	0.81658	-0.0833	10	0.06891	T	0.86	.	11.7148	0.51645	0.0:1.0:0.0:0.0	.	68	O00358	FOXE1_HUMAN	Q	68	ENSP00000364265:H68Q	ENSP00000364265:H68Q	H	+	3	2	FOXE1	99656221	0.985000	0.35326	1.000000	0.80357	0.996000	0.88848	0.444000	0.21661	1.680000	0.50976	0.563000	0.77884	CAC			0.706	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053341.1				G	100616400	C	G	100616400	3	3	138	1	0	0	0	0	1	0	0	0	6016	535	19	5	206	5	FOXE1	9	100616400	Missense_Mutation	SNP	C	TCGA-YU-AA4L-01A-11D-A435-10		100616400	40597031	24	10206											
C9orf43	257169	mdanderson.org	37	chr9	116187328	116187328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgatatcctgaacgtttGaagaaattacataacctgaa	15	11	7	8	2	0	4	0	3	0	1	1	5	1	4	2	0	4	1	2	0	7	4			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr9:116187328G>T	ENST00000288462.4	+	9	1283	c.837G>T	c.(835-837)ttG>ttT	p.L279F	C9orf43_ENST00000374165.1_Missense_Mutation_p.L279F	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	279										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CTGAACGTTTGAAGAAATTAC	0.408																																					p.L279F													.	.			0			c.G837T												125	112	117					9																	116187328		2203	4300	6503	SO:0001583	missense	257169	exon9			ACGTTTGAAGAAA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.837G>T	9.37:g.116187328G>T	ENSP00000288462:p.Leu279Phe		16	0	0		35	0.09	3	NM_152786	0		0		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215571	0.58452	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.52057	0.68;0.68	4.11	2.23	0.28157	.	0.233957	0.22117	N	0.064386	T	0.34193	0.0889	L	0.34521	1.04	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.25222	-1.0138	10	0.45353	T	0.12	0.9291	9.2492	0.37545	0.0:0.0:0.607:0.393	.	279	Q8TAL5	CI043_HUMAN	F	279	ENSP00000363280:L279F;ENSP00000288462:L279F	ENSP00000288462:L279F	L	+	3	2	C9orf43	115227149	0.020000	0.18652	0.008000	0.14137	0.592000	0.36648	-0.002000	0.12924	0.661000	0.30985	0.557000	0.71058	TTG			0.408	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053739.1		NM_152786		T	116187328	G	T	116187328	3	4	138	1	0	0	0	0	1	0	0	0	2485	1281	45	3	867	3	C9orf43	9	116187328	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	15570928	116187328	25026103	25	10207											
RASSF4	83937	hgsc.bcm.edu	37	chr10	45486407	45486407	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttcagagcggacaaaaTtaaaagactgcgagtacccg	14	9	9	9	3	1	2	1	0	0	2	1	4	1	3	1	1	3	1	1	1	5	4	rs142266476		TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr10:45486407T>C	ENST00000340258.5	+	9	810	c.697T>C	c.(697-699)Tta>Cta	p.L233L	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000334940.6_Silent_p.L242L|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCGGACAAAATTAAAAGACTG	0.463																																					p.L233L													RASSF4,NS,carcinoma,-2,1	RASSF4	-2	1	0			c.T697C							T		0,4406		0,0,2203	76	87	83		697	0	1	10	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RASSF4	NM_032023.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		233/322	45486407	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83937	exon9			ACAAAATTAAAAG	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.697T>C	10.37:g.45486407T>C			50	0	0		34	0.06	2	NM_032023	36	0	0	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	CCDS7208.1																																																																																			0		0.463	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047745.2		NM_032023		C	45486407	T	C	45486407	2	2	138	1	0	0	0	0	0	0	0	1	13111	1490	52	4		4	RASSF4	10	45486407	Silent	SNP	T	TCGA-YU-AA4L-01A-11D-A435-10		45486407	90048340	26	10208											
KIAA0913	23053	mdanderson.org	37	chr10	75550887	75550887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggagggacagcaatgctGcccccttgttggaaatcctc	9	8	12	12	1	0	0	0	0	0	0	2	3	1	3	3	3	4	3	3	3	2	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr10:75550887G>T	ENST00000605216.1	+	8	1313	c.1096G>T	c.(1096-1098)Gcc>Tcc	p.A366S	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A366S|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A366S|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A366S|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A366S	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	366							zinc ion binding (GO:0008270)										CAGCAATGCTGCCCCCTTGTT	0.592																																					p.A366S													.	.			0			c.G1096T												52	60	57					10																	75550887		2093	4216	6309	SO:0001583	missense	23053	exon8			AATGCTGCCCCCT	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.1096G>T	10.37:g.75550887G>T	ENSP00000474748:p.Ala366Ser		72	0	0		56	0.05	3	NM_015037	27	0	0	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.46|17.46	3.394076|3.394076	0.62066|0.62066	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366	T|.	0.73575|.	-0.76|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.56097|.	U|.	0.000023|.	T|T	0.57184|0.57184	0.2036|0.2036	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.996;0.996;0.996|.	D;D;D|.	0.77557|.	0.986;0.99;0.986|.	T|T	0.49899|0.49899	-0.8890|-0.8890	10|5	0.54805|.	T|.	0.06|.	-4.4829|-4.4829	19.2662|19.2662	0.93985|0.93985	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	366;366;366|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	S|F	366|88	ENSP00000381693:A366S|.	ENSP00000381693:A366S|.	A|C	+|+	1|2	0|0	KIAA0913|KIAA0913	75220893|75220893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.157000|9.157000	0.94714|0.94714	2.789000|2.789000	0.95967|0.95967	0.591000|0.591000	0.81541|0.81541	GCC|TGC			0.592	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000468545.1		NM_001242487		T	75550887	G	T	75550887	3	4	138	1	0	0	0	0	1	0	0	0	8215	1319	46	2	1126	2	KIAA0913	10	75550887	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	30064480	75550887	59983860	27	10209											
PI4K2A	55361	mdanderson.org	37	chr10	99400832	99400832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggatcctgagttcgaGgcggtggtgcggcaggccga	6	6	19	10	5	0	1	0	1	0	0	2	5	1	3	3	7	1	2	3	7	0	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr10:99400832G>C	ENST00000370631.3	+	1	390	c.333G>C	c.(331-333)gaG>gaC	p.E111D	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	111					basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CTGAGTTCGAGGCGGTGGTGC	0.706																																					p.E111D													.	.			0			c.G333C												12	14	13					10																	99400832		1970	4008	5978	SO:0001583	missense	55361	exon1			GTTCGAGGCGGTG	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.333G>C	10.37:g.99400832G>C	ENSP00000359665:p.Glu111Asp		11	0	0		14	0.14	2	NM_018425	4	0	0	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	G	3.147	-0.175017	0.06421	.	.	ENSG00000155252	ENST00000370631	.	.	.	3.53	2.56	0.30785	.	0.192698	0.43416	D	0.000580	T	0.29783	0.0744	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.17098	0.017	T	0.07673	-1.0760	9	0.19590	T	0.45	-14.2655	7.8861	0.29651	0.0:0.2317:0.6285:0.1398	.	111	Q9BTU6	P4K2A_HUMAN	D	111	.	ENSP00000359665:E111D	E	+	3	2	PI4K2A	99390822	0.495000	0.26051	0.887000	0.34795	0.171000	0.22731	0.781000	0.26774	1.808000	0.52836	0.313000	0.20887	GAG			0.706	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049735.1		NM_018425		C	99400832	G	C	99400832	3	2	138	1	0	0	0	0	1	0	0	0	11888	991	35	5	335	5	PI4K2A	10	99400832	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	23849945	99400832	36133915	28	10210											
ANO5	203859	mdanderson.org	37	chr11	22272376	22272376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattggagactaaatagtaCgtgtttggcttcaaaggtat	12	15	10	4	1	1	1	1	0	0	1	1	2	1	1	0	3	1	4	0	3	7	8			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr11:22272376C>T	ENST00000324559.8	+	11	1420	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	368					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTAAATAGTACGTGTTTGGCT	0.368																																					p.T368M													.	.			0			c.C1103T												270	227	242					11																	22272376		2203	4300	6503	SO:0001583	missense	203859	exon11			ATAGTACGTGTTT	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1103C>T	11.37:g.22272376C>T	ENSP00000315371:p.Thr368Met		44	0	0		52	0.06	3	NM_213599	1	0	0		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545927	0.65198	.	.	ENSG00000171714	ENST00000324559	T	0.73047	-0.71	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86889	0.2047	10	0.51188	T	0.08	.	19.3645	0.94456	0.0:1.0:0.0:0.0	.	368	Q75V66	ANO5_HUMAN	M	368	ENSP00000315371:T368M	ENSP00000315371:T368M	T	+	2	0	ANO5	22228952	1.000000	0.71417	0.104000	0.21259	0.499000	0.33736	7.340000	0.79292	2.565000	0.86533	0.557000	0.71058	ACG			0.368	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387615.1		NM_213599		T	22272376	C	T	22272376	3	4	138	1	0	0	0	0	1	0	0	0	700	536	19	1	1145	1	ANO5	11	22272376	Missense_Mutation	SNP	C	TCGA-YU-AA4L-01A-11D-A435-10		22272376	112734140	29	10211											
TMEM109	79073	mdanderson.org	37	chr11	60689301	60689301	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggtccagaccttcctGctgtggggagcaggggccct	5	7	16	13	0	0	1	0	0	0	1	2	2	2	2	5	6	2	2	5	6	0	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr11:60689301G>T	ENST00000227525.3	+	4	799	c.396G>T	c.(394-396)ctG>ctT	p.L132L	TMEM109_ENST00000536171.1_Silent_p.L132L|TMEM132A_ENST00000453848.2_5'Flank|TMEM132A_ENST00000005286.4_5'Flank|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	132					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						AGACCTTCCTGCTGTGGGGAG	0.632																																					p.L132L													.	.			0			c.G396T												104	108	106					11																	60689301		2203	4299	6502	SO:0001819	synonymous_variant	79073	exon4			CTTCCTGCTGTGG		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.396G>T	11.37:g.60689301G>T			48	0	0		51	0.06	3	NM_024092	45	0	0		Silent	SNP	ENST00000227525.3	37	CCDS7996.1																																																																																					0.632	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396343.1		NM_024092		T	60689301	G	T	60689301	2	4	138	1	0	0	0	0	0	0	0	1	16048	1306	46	2		2	TMEM109	11	60689301	Silent	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	38416925	60689301	74317215	30	10212											
SART1	9092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65744158	65744158	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgaggagcgctcagccaAcggtggctccgaatctgacg	9	6	15	11	4	2	2	1	2	1	0	3	5	3	4	2	4	3	2	2	4	2	0	rs542380135		TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr11:65744158A>C	ENST00000312397.5	+	14	1870	c.1778A>C	c.(1777-1779)aAc>aCc	p.N593T		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	593					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCTCAGCCAACGGTGGCTCC	0.672																																					p.N593T													.	.			0			c.A1778C												31	29	30					11																	65744158		2201	4296	6497	SO:0001583	missense	9092	exon14			CAGCCAACGGTGG	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1778A>C	11.37:g.65744158A>C	ENSP00000310448:p.Asn593Thr		48	0	0		82	0.62	51	NM_005146	387	0.66	257	A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	A	2.822	-0.244684	0.05906	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.24151	1.87	4.0	2.87	0.33458	.	0.597033	0.16279	N	0.221443	T	0.20618	0.0496	L	0.40543	1.245	0.40897	D	0.984121	B	0.25441	0.126	B	0.26094	0.066	T	0.06320	-1.0833	10	0.87932	D	0	-29.1503	7.4032	0.26975	0.893:0.0:0.107:0.0	.	593	O43290	SNUT1_HUMAN	T	593;435	ENSP00000310448:N593T	ENSP00000310448:N593T	N	+	2	0	SART1	65500734	0.275000	0.24201	0.553000	0.28255	0.032000	0.12392	0.866000	0.27954	0.597000	0.29811	0.402000	0.26972	AAC			0.672	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391409.1				C	65744158	A	C	65744158	3	2	138	1	0	0	0	0	1	0	0	0	13869	43	2	4	1832	4	SART1	11	65744158	Missense_Mutation	SNP	A	TCGA-YU-AA4L-01A-11D-A435-10	5054857	65744158	69262358	31	10213											
GPC5	2262	mdanderson.org	37	chr13	92101090	92101090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagagatatcagattgCggctcgccaggatatgcagc	11	7	15	8	2	1	2	1	0	0	2	2	6	1	5	1	4	3	2	1	4	2	3	rs559277707		TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr13:92101090C>T	ENST00000377067.3	+	2	611	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	80					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)				TATCAGATTGCGGCTCGCCAG	0.433													C|||	1	0.000199681	0	0.0014	5008	,	,		18864	0		0	False		,,,				2504	0				p.A80V													.	.			0			c.C239T												143	133	136					13																	92101090		2203	4300	6503	SO:0001583	missense	2262	exon2			AGATTGCGGCTCG	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.239C>T	13.37:g.92101090C>T	ENSP00000366267:p.Ala80Val		49	0	0		51	0.06	3	NM_004466	0		0	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	8.422	0.846542	0.16963	.	.	ENSG00000179399	ENST00000377067	T	0.50813	0.73	5.5	2.87	0.33458	.	0.053771	0.64402	N	0.000001	T	0.33265	0.0857	L	0.36672	1.1	0.31381	N	0.678985	B	0.21606	0.058	B	0.24394	0.053	T	0.30880	-0.9963	10	0.17832	T	0.49	.	8.2657	0.31813	0.0:0.6973:0.0:0.3027	.	80	P78333	GPC5_HUMAN	V	80	ENSP00000366267:A80V	ENSP00000366267:A80V	A	+	2	0	GPC5	90899091	0.598000	0.26882	0.007000	0.13788	0.136000	0.21042	1.171000	0.31896	0.301000	0.22738	0.467000	0.42956	GCG			0.433	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045454.1		NM_004466		T	92101090	C	T	92101090	3	4	138	1	0	0	0	0	1	0	0	0	6615	768	27	1	245	1	GPC5	13	92101090	Missense_Mutation	SNP	C	TCGA-YU-AA4L-01A-11D-A435-10		92101090	23068788	32	10214											
F7	2155	mdanderson.org	37	chr13	113772845	113772845	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatcgcgctgctccgcctGcaccagcccgtggtcctcac	5	7	10	19	4	1	0	1	0	0	0	4	1	3	0	5	1	3	3	5	1	0	0			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr13:113772845G>T	ENST00000375581.3	+	9	959	c.924G>T	c.(922-924)ctG>ctT	p.L308L	F7_ENST00000541084.1_Silent_p.L239L|F7_ENST00000346342.3_Silent_p.L286L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	308	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGCTCCGCCTGCACCAGCCCG	0.662																																					p.L308L													.	.			0			c.G924T												85	65	72					13																	113772845		2202	4300	6502	SO:0001819	synonymous_variant	2155	exon9			CCGCCTGCACCAG		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.924G>T	13.37:g.113772845G>T			30	0	0		22	0.09	2	NM_000131	28	0	0	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	CCDS9528.1																																																																																					0.662	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045838.4		NM_000131		T	113772845	G	T	113772845	2	4	138	1	0	0	0	0	0	0	0	1	5356	1306	46	2		2	F7	13	113772845	Silent	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	21671755	113772845	1397033	33	10215											
PSMB5	5693	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	23504076	23504076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcggtctctccaacacGctggcaagcgccatgtctag	8	8	12	13	3	2	0	0	0	2	0	4	0	3	0	2	3	3	3	2	3	4	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr14:23504076G>A	ENST00000361611.6	-	1	278	c.15C>T	c.(13-15)agC>agT	p.S5S	PSMB5_ENST00000493471.2_Silent_p.S5S|PSMB5_ENST00000460922.2_Silent_p.S5S|PSMB5_ENST00000425762.2_Intron|AL132780.1_ENST00000385031.1_RNA	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	5				LAS -> HEG (in Ref. 6; BC004146). {ECO:0000305}.|LASV -> IRGR (in Ref. 8; BAA06097). {ECO:0000305}.	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)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.S5R(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TCTCCAACACGCTGGCAAGCG	0.572																																					p.S5S													PSMB5_ENST00000493471,NS,carcinoma,0,2	PSMB5_ENST00000493471	0	2	2	Substitution - Missense(2)	kidney(2)	c.C15T												37	36	36					14																	23504076		2203	4300	6503	SO:0001819	synonymous_variant	5693	exon1			CAACACGCTGGCA	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"Proteasome (prosome, macropain) subunits"	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.15C>T	14.37:g.23504076G>A			70	0	0		67	0.09	6	NM_001144932	222	0.06	13	B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Silent	SNP	ENST00000361611.6	37	CCDS9584.1																																																																																					0.572	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071695.4		NM_002797		A	23504076	G	A	23504076	2	1	138	1	0	0	0	0	0	0	0	1	12700	1078	38	1		1	PSMB5	14	23504076	Silent	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10		23504076	83845464	34	10216											
NFATC4	4776	mdanderson.org	37	chr14	24841809	24841809	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcaccccgtagtcaaGgtaaaggacagacagcaggc	12	4	14	11	2	2	1	2	0	0	1	2	2	2	2	2	5	1	3	2	5	4	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr14:24841809G>T	ENST00000250373.4	+	3	1500	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	NFATC4_ENST00000554966.1_Splice_Site_p.K466N|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555590.1_Splice_Site_p.K466N|NFATC4_ENST00000422617.3_Splice_Site_p.K441N|NFATC4_ENST00000554661.1_Splice_Site_p.K383N|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000557451.1_Splice_Site_p.K383N|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000424781.2_Splice_Site_p.K466N|NFATC4_ENST00000555453.1_Splice_Site_p.K441N|NFATC4_ENST00000553879.1_Splice_Site_p.K383N|NFATC4_ENST00000413692.2_Splice_Site_p.K516N|NFATC4_ENST00000554591.1_Splice_Site_p.K516N|NFATC4_ENST00000539237.2_Splice_Site_p.K485N|NFATC4_ENST00000553469.1_Splice_Site_p.K485N|NFATC4_ENST00000556279.1_Splice_Site_p.K485N|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000556169.1_Splice_Site_p.K441N|NFATC4_ENST00000554344.1_Splice_Site_p.K383N|NFATC4_ENST00000553708.1_Splice_Site_p.K453N|NFATC4_ENST00000554050.1_Splice_Site_p.K453N	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	453	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				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)		CCGTAGTCAAGGTAAAGGACA	0.592																																					p.K516N													.	.			0			c.G1548T												39	34	36					14																	24841809		2203	4300	6503	SO:0001630	splice_region_variant	4776	exon4			AGTCAAGGTAAAG	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.1359+1G>T	14.37:g.24841809G>T			36	0	0		18	0.11	2	NM_001198967	11	0	0	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	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126902	0.77549	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;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	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;0.7;0.7;0.7;0.7;0.7;0.7	5.01	5.01	0.66863	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;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	0.91635	0.996;0.997;0.994;0.997;0.994;0.994;0.999;0.999;0.999;0.999;0.994;0.994;0.999;0.994;0.997	T	0.71318	-0.4629	10	0.87932	D	0	-10.5245	15.8646	0.79055	0.0:0.0:1.0:0.0	.	441;441;485;485;466;466;466;516;516;441;383;485;430;516;453	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	516;516;466;466;466;485;485;485;453;453;453;383;383;383;441;383;441;441	ENSP00000388910:K516N;ENSP00000452039:K516N;ENSP00000451224:K466N;ENSP00000450644:K466N;ENSP00000388668:K466N;ENSP00000439350:K485N;ENSP00000452270:K485N;ENSP00000451502:K485N;ENSP00000451151:K453N;ENSP00000250373:K453N;ENSP00000450590:K453N;ENSP00000452349:K383N;ENSP00000450469:K383N;ENSP00000450733:K383N;ENSP00000451454:K441N;ENSP00000451284:K383N;ENSP00000396788:K441N;ENSP00000450686:K441N	ENSP00000250373:K453N	K	+	3	2	NFATC4	23911649	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.214000	0.72200	2.603000	0.88011	0.655000	0.94253	AAG			0.592	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000073206.6		NM_004554	Missense_Mutation	T	24841809	G	T	24841809	5	4	138	1	0	0	0	0	0	0	1	0	10382	1014	35	3	1562	3	NFATC4	14	24841809	Splice_Site	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	1337733	24841809	82507731	35	10217											
SYNE2	23224	mdanderson.org	37	chr14	64421577	64421577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaagacaatctgagagAggccttcagaattgcagaac	17	6	9	9	0	2	5	1	1	1	4	2	6	2	5	1	1	3	1	1	1	5	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr14:64421577A>G	ENST00000344113.4	+	8	943	c.731A>G	c.(730-732)gAg>gGg	p.E244G	SYNE2_ENST00000358025.3_Missense_Mutation_p.E244G|SYNE2_ENST00000341472.5_Missense_Mutation_p.E244G|SYNE2_ENST00000554584.1_Missense_Mutation_p.E244G|SYNE2_ENST00000356081.3_Missense_Mutation_p.E244G|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	244	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		AATCTGAGAGAGGCCTTCAGA	0.398																																					p.E244G													.	.			0			c.A731G												126	109	114					14																	64421577		1842	4093	5935	SO:0001583	missense	23224	exon8			TGAGAGAGGCCTT	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.731A>G	14.37:g.64421577A>G	ENSP00000341781:p.Glu244Gly		20	0	0		23	0.13	3	NM_182914	0		0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.156326	0.38021	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59	5.19	5.19	0.71726	Calponin homology domain (5);	0.239623	0.28544	N	0.014968	D	0.97182	0.9079	M	0.85462	2.755	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.992	D;D;P	0.66847	0.947;0.913;0.813	D	0.97860	1.0280	10	0.72032	D	0.01	.	15.3513	0.74389	1.0:0.0:0.0:0.0	.	244;244;244	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	G	244	ENSP00000350719:E244G;ENSP00000341781:E244G;ENSP00000344528:E244G;ENSP00000348382:E244G;ENSP00000452570:E244G	ENSP00000261678:E244G	E	+	2	0	SYNE2	63491330	1.000000	0.71417	0.996000	0.52242	0.033000	0.12548	8.854000	0.92228	2.082000	0.62665	0.528000	0.53228	GAG			0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276994.2		NM_182914		G	64421577	A	G	64421577	3	3	138	1	0	0	0	0	1	0	0	0	15469	304	11	4	757	4	SYNE2	14	64421577	Missense_Mutation	SNP	A	TCGA-YU-AA4L-01A-11D-A435-10	39579768	64421577	42927963	36	10218											
TJP1	7082	mdanderson.org	37	chr15	29997939	29997939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcttcatcctcttccaCagctgaaggactgaaagttc	10	13	6	12	0	4	2	2	2	2	0	7	3	6	3	2	1	1	2	2	1	2	4			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr15:29997939C>T	ENST00000346128.6	-	26	5335	c.4861G>A	c.(4861-4863)Gtg>Atg	p.V1621M	TJP1_ENST00000545208.2_Missense_Mutation_p.V1541M|TJP1_ENST00000400011.2_Missense_Mutation_p.V1545M|TJP1_ENST00000356107.6_Missense_Mutation_p.V1621M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1621					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)		TCCTCTTCCACAGCTGAAGGA	0.438																																					p.V1621M	Melanoma(77;681 1843 6309 6570)												.	.			0			c.G4861A												91	87	88					15																	29997939		1951	4151	6102	SO:0001583	missense	7082	exon26			CTTCCACAGCTGA		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.4861G>A	15.37:g.29997939C>T	ENSP00000281537:p.Val1621Met		67	0	0		70	0.06	4	NM_003257	106	0	0	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328003	0.41197	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.55234	0.53;0.53	5.39	2.11	0.27256	.	0.238872	0.35151	N	0.003404	T	0.37972	0.1023	L	0.44542	1.39	0.80722	D	1	B;B;B;B	0.12013	0.001;0.005;0.002;0.001	B;B;B;B	0.12837	0.003;0.008;0.005;0.004	T	0.23904	-1.0175	10	0.51188	T	0.08	.	3.4564	0.07516	0.4874:0.3029:0.1225:0.0873	.	1614;1541;1621;1545	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	M	1621;1545;1621;1541;1541	ENSP00000281537:V1621M;ENSP00000382890:V1545M	ENSP00000281537:V1621M	V	-	1	0	TJP1	27785231	0.851000	0.29673	0.993000	0.49108	0.998000	0.95712	1.382000	0.34374	0.611000	0.30052	0.655000	0.94253	GTG			0.438	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000268237.3		NM_003257		T	29997939	C	T	29997939	3	4	138	1	0	0	0	0	1	0	0	0	15952	478	17	3	397	3	TJP1	15	29997939	Missense_Mutation	SNP	C	TCGA-YU-AA4L-01A-11D-A435-10		29997939	72533453	37	10219											
UACA	55075	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr15	70960705	70960706	+	Frame_Shift_Del	DEL	TG	TG	-																															acttcttttctgtatattttTgtgttacatctaaaagcttt																										TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	TG	TG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr15:70960705_70960706delTG	ENST00000322954.6	-	16	2502_2503	c.2317_2318delCA	c.(2317-2319)caafs	p.Q773fs	UACA_ENST00000539319.1_Frame_Shift_Del_p.Q664fs|UACA_ENST00000560441.1_Frame_Shift_Del_p.Q758fs|UACA_ENST00000379983.2_Frame_Shift_Del_p.Q760fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	773					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTATATTTTTGTGTTACATCT	0.317																																					p.773_773del													.	UACA	235		0			c.2318_2319del																																									SO:0001589	frameshift_variant	55075	exon16			TATTTTTGTGTTA	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2317_2318delCA	15.37:g.70960707_70960708delTG	ENSP00000314556:p.Gln773fs		46	0	0		66	0.53	35	NM_018003	13	0	0	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Frame_Shift_Del	DEL	ENST00000322954.6	37	CCDS10235.1																																																																																					0.317	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257199.2				-	70960706	TG	-	70960705	7	5	138	1	0	1	0	1	0	0	0	0	16848	1812	63	0	1948	0	UACA	15	70960705	Frame_Shift_Del	DEL	TG	TCGA-YU-AA4L-01A-11D-A435-10	40962766	70960705	31570687	38	10220											
E4F1	1877	mdanderson.org	37	chr16	2279574	2279574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttccccctttggcaggtgGtgccggcagcaccaggccca	5	8	12	16	1	1	0	0	0	1	0	2	0	2	0	5	5	2	3	5	5	0	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr16:2279574G>T	ENST00000301727.4	+	3	361	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	E4F1_ENST00000564139.1_Missense_Mutation_p.V105L|E4F1_ENST00000565090.1_Missense_Mutation_p.V105L	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	105					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						TTGGCAGGTGGTGCCGGCAGC	0.602																																					p.V105L													.	.			0			c.G313T												101	114	110					16																	2279574		2198	4300	6498	SO:0001583	missense	1877	exon3			CAGGTGGTGCCGG	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.313G>T	16.37:g.2279574G>T	ENSP00000301727:p.Val105Leu		14	0	0		23	0.13	3	NM_004424	11	0	0	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314397	0.05422	.	.	ENSG00000167967	ENST00000301727	T	0.07444	3.19	4.62	3.66	0.41972	.	0.255560	0.32287	N	0.006310	T	0.09113	0.0225	L	0.48642	1.525	0.35469	D	0.797196	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.09377	0.004;0.003;0.001	T	0.08617	-1.0713	10	0.42905	T	0.14	-9.6934	11.9284	0.52833	0.0:0.1755:0.8245:0.0	.	101;105;105	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	L	105	ENSP00000301727:V105L	ENSP00000301727:V105L	V	+	1	0	E4F1	2219575	1.000000	0.71417	0.966000	0.40874	0.065000	0.16274	3.750000	0.55157	1.159000	0.42565	-0.304000	0.09214	GTG			0.602	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435225.1		NM_004424		T	2279574	G	T	2279574	3	4	138	1	0	0	0	0	1	0	0	0	4879	1261	44	3	323	3	E4F1	16	2279574	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10		2279574	88075179	39	10221											
TNRC6A	27327	mdanderson.org	37	chr16	24788654	24788654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccacaaaataacggagaGgtgcagaacagcaaaaacca	20	2	9	10	1	0	2	0	0	0	2	0	3	0	2	2	2	6	2	2	2	6	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr16:24788654G>T	ENST00000395799.3	+	5	693	c.564G>T	c.(562-564)gaG>gaT	p.E188D	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E188D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	188	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|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)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATAACGGAGAGGTGCAGAACA	0.413																																					p.E188D													.	.			0			c.G564T												124	125	124					16																	24788654		2034	4212	6246	SO:0001583	missense	27327	exon5			CGGAGAGGTGCAG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.564G>T	16.37:g.24788654G>T	ENSP00000379144:p.Glu188Asp		13	0	0		18	0.11	2	NM_014494	9	0	0	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698285	0.30142	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12147	2.71;2.72	5.84	4.87	0.63330	.	0.149703	0.47852	D	0.000219	T	0.09024	0.0223	L	0.34521	1.04	0.80722	D	1	P	0.47762	0.9	B	0.38985	0.287	T	0.17868	-1.0355	10	0.14252	T	0.57	-4.9344	9.8888	0.41276	0.2045:0.0:0.7955:0.0	.	188	Q8NDV7	TNR6A_HUMAN	D	188	ENSP00000326900:E188D;ENSP00000379144:E188D	ENSP00000326900:E188D	E	+	3	2	TNRC6A	24696155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.744000	0.38268	2.758000	0.94735	0.591000	0.81541	GAG			0.413	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000214081.1		NM_020847		T	24788654	G	T	24788654	3	4	138	1	0	0	0	0	1	0	0	0	16363	991	35	3	582	3	TNRC6A	16	24788654	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	22509080	24788654	65566099	40	10222											
GFOD2	81577	mdanderson.org	37	chr16	67709829	67709829	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtttcatgcgcacgaaGgcaggcaggaagcgcagcac	11	5	14	11	3	1	0	1	0	0	0	1	2	1	1	0	3	4	7	0	3	2	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr16:67709829G>T	ENST00000268797.7	-	3	732	c.387C>A	c.(385-387)gcC>gcA	p.A129A	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	129					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGCGCACGAAGGCAGGCAGGA	0.592																																					p.A129A													.	.			0			c.C387A												104	83	90					16																	67709829		2198	4300	6498	SO:0001819	synonymous_variant	81577	exon3			CACGAAGGCAGGC	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.387C>A	16.37:g.67709829G>T			70	0	0		46	0.07	3	NM_030819	21	0	0	Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Silent	SNP	ENST00000268797.7	37	CCDS10845.1																																																																																					0.592	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268868.2		NM_030819		T	67709829	G	T	67709829	2	4	138	1	0	0	0	0	0	0	0	1	6358	987	35	3		3	GFOD2	16	67709829	Silent	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	42921175	67709829	22644924	41	10223											
ZCCHC14	23174	mdanderson.org	37	chr16	87451220	87451220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtccatctgggtccggtagGccagggctgagcccgcgctg	4	8	16	13	3	1	1	0	1	1	0	3	1	3	1	4	4	1	3	4	4	1	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr16:87451220G>T	ENST00000268616.4	-	8	1035	c.818C>A	c.(817-819)gCc>gAc	p.A273D		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	273							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGTCCGGTAGGCCAGGGCTGA	0.672																																					p.A273D													.	.			0			c.C818A												112	125	120					16																	87451220		2198	4300	6498	SO:0001583	missense	23174	exon8			CGGTAGGCCAGGG	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.818C>A	16.37:g.87451220G>T	ENSP00000268616:p.Ala273Asp		54	0	0		43	0.07	3	NM_015144	4	0	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598203	0.46318	.	.	ENSG00000140948	ENST00000268616	T	0.18960	2.18	5.77	5.77	0.91146	.	0.414096	0.26631	N	0.023312	T	0.15955	0.0384	L	0.27053	0.805	0.32054	N	0.596574	P;P	0.51933	0.949;0.93	B;B	0.42319	0.361;0.383	T	0.08126	-1.0737	10	0.52906	T	0.07	-19.3189	10.6353	0.45560	0.0696:0.133:0.7973:0.0	.	273;273	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	D	273	ENSP00000268616:A273D	ENSP00000268616:A273D	A	-	2	0	ZCCHC14	86008721	0.994000	0.37717	1.000000	0.80357	0.469000	0.32828	3.815000	0.55651	2.884000	0.98904	0.655000	0.94253	GCC			0.672	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269107.1		NM_015144		T	87451220	G	T	87451220	3	4	138	1	0	0	0	0	1	0	0	0	17606	1203	42	2	2055	2	ZCCHC14	16	87451220	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	19741391	87451220	2903533	42	10224											
BCAS3	54828	broad.mit.edu;mdanderson.org	37	chr17	59001819	59001819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgtggcccacttccctGcccatgagaagccagtgtgc	7	9	11	14	0	0	1	0	1	0	1	1	2	1	1	4	1	3	1	4	1	1	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr17:59001819G>T	ENST00000390652.5	+	13	1076	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	BCAS3_ENST00000408905.3_Missense_Mutation_p.A349S|BCAS3_ENST00000407086.3_Missense_Mutation_p.A349S|BCAS3_ENST00000585744.1_Missense_Mutation_p.A120S|BCAS3_ENST00000588462.1_Missense_Mutation_p.A349S|BCAS3_ENST00000589222.1_Missense_Mutation_p.A349S|BCAS3_ENST00000588874.1_Missense_Mutation_p.A120S	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)			CCACTTCCCTGCCCATGAGAA	0.388																																					p.A349S													.	BCAS3	90		0			c.G1045T												151	148	149					17																	59001819		1961	4166	6127	SO:0001583	missense	54828	exon13			TTCCCTGCCCATG	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.1045G>T	17.37:g.59001819G>T	ENSP00000375067:p.Ala349Ser		45	0	0		74	0.05	4	NM_001099432	8	0	0		Missense_Mutation	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857359	0.91433	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	T;T;T	0.07908	3.15;3.15;3.15	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	M	0.76727	2.345	0.58432	D	0.999994	D;D;D;D;D	0.76494	0.999;0.989;0.996;0.997;0.999	D;D;D;D;D	0.87578	0.998;0.951;0.99;0.994;0.994	T	0.01312	-1.1388	10	0.87932	D	0	.	19.9135	0.97033	0.0:0.0:1.0:0.0	.	140;154;349;349;349	B4E3M9;Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	S	349;349;349;349;141;154	ENSP00000375067:A349S;ENSP00000385323:A349S;ENSP00000386173:A349S	ENSP00000353336:A141S	A	+	1	0	BCAS3	56356601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.090000	0.89526	2.711000	0.92665	0.591000	0.81541	GCC			0.388	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000449578.1		NM_017679		T	59001819	G	T	59001819	3	4	138	1	0	0	0	0	1	0	0	0	1352	1319	46	2	1091	2	BCAS3	17	59001819	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10		59001819	22193391	43	10225											
HMG20B	10362	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr19	3575627	3575638	+	In_Frame_Del	DEL	GGAGAAGATCCA	GGAGAAGATCCA	-																															gaagcctataagatgtgcacGgagaagatccaggagaagaa																										TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	GGAGAAGATCCA	GGAGAAGATCCA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr19:3575627_3575638delGGAGAAGATCCA	ENST00000333651.6	+	5	516_527	c.441_452delGGAGAAGATCCA	c.(439-453)acggagaagatccag>acg	p.EKIQ148del	MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	148					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTGCACGGAGAAGATCCAGGAGAAGAAG	0.604																																					p.147_151del													.	HMG20B	12		0			c.440_451del																																									SO:0001651	inframe_deletion	10362	exon5			GTGCACGGAGAAG	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"High mobility group / Non-canonical"	5002	protein-coding gene	gene with protein product	"HMG box domain containing 2"	605535	"high-mobility group 20B"			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.441_452delGGAGAAGATCCA	19.37:g.3575627_3575638delGGAGAAGATCCA	ENSP00000328269:p.Glu148_Gln151del		26	0	0		32	0.34	11	NM_006339	107	0	0	A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	In_Frame_Del	DEL	ENST00000333651.6	37	CCDS45919.1																																																																																					0.604	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318088.1		NM_006339		-	3575638	GGAGAAGATCCA	-	3575627	7	5	138	1	0	1	0	1	0	0	0	0	7237	1103	39	0	455	0	HMG20B	19	3575627	In_Frame_Del	DEL	GGAGAAGATCCA	TCGA-YU-AA4L-01A-11D-A435-10		3575627	55553356	44	10226											
SPC24	147841	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	11259855	11259855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctccacgcctccctggtGcacctgctccttcgcattga	5	10	8	18	2	0	1	0	1	0	0	4	1	3	1	5	1	3	4	5	1	0	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr19:11259855G>A	ENST00000592540.1	-	2	251	c.220C>T	c.(220-222)Cac>Tac	p.H74Y		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	74	Interaction with the N-terminus of SPBC25.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleolus (GO:0005730)|nucleus (GO:0005634)				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						CCTCCCTGGTGCACCTGCTCC	0.602																																					p.H74Y													.	SPC24	8		0			c.C220T												20	23	22					19																	11259855		1968	3919	5887	SO:0001583	missense	147841	exon2			CCTGGTGCACCTG	AK075287	CCDS45974.1	19p13.2	2013-06-05	2013-06-05	2007-03-02		ENSG00000161888			26913	protein-coding gene	gene with protein product		609394	"spindle pole body component 24 homolog (S. cerevisiae)", "SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC24			Standard	NM_182513		Approved	FLJ90806	uc002mql.2	Q8NBT2		ENST00000592540.1:c.220C>T	19.37:g.11259855G>A	ENSP00000465075:p.His74Tyr		59	0	0		64	0.08	5	NM_182513	27	0.04	1	B4DZZ7|C9JGC4	Missense_Mutation	SNP	ENST00000592540.1	37	CCDS45974.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283474	0.23392	.	.	ENSG00000161888	ENST00000423327	.	.	.	4.36	2.16	0.27623	.	0.890661	0.09802	N	0.753956	T	0.34978	0.0916	L	0.51422	1.61	0.09310	N	0.999997	B	0.27192	0.171	B	0.20577	0.03	T	0.27400	-1.0075	9	0.54805	T	0.06	-1.7184	6.8768	0.24151	0.0959:0.0:0.7306:0.1736	.	74	Q8NBT2	SPC24_HUMAN	Y	74	.	ENSP00000397131:H74Y	H	-	1	0	SPC24	11120855	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	0.451000	0.21779	0.282000	0.22254	0.557000	0.71058	CAC			0.602	SPC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453059.1		NM_182513		A	11259855	G	A	11259855	3	1	138	1	0	0	0	0	1	0	0	0	15044	1319	46	2	389	2	SPC24	19	11259855	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	7684228	11259855	47869128	45	10227											
CPAMD8	27151	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	17039937	17039937	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctggggcccagaagacaAggccacacgggcatcattgt	10	6	13	12	1	1	2	1	0	0	2	2	2	2	2	3	4	0	1	3	4	2	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr19:17039937A>G	ENST00000443236.1	-	24	3131	c.3100T>C	c.(3100-3102)Ttg>Ctg	p.L1034L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	987						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAGAAGACAAGGCCACACGG	0.597																																					p.L1034L													.	.			0			c.T3100C												47	51	50					19																	17039937		2096	4218	6314	SO:0001819	synonymous_variant	27151	exon24			AAGACAAGGCCAC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3100T>C	19.37:g.17039937A>G			30	0	0		23	0.43	10	NM_015692	3	0.33	1	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1																																																																																					0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257531.2		NM_015692		G	17039937	A	G	17039937	2	3	138	1	0	0	0	0	0	0	0	1	3797	69	3	4		4	CPAMD8	19	17039937	Silent	SNP	A	TCGA-YU-AA4L-01A-11D-A435-10	5780082	17039937	42089046	46	10228											
ZNF675	171392	broad.mit.edu	37	chr19	23836584	23836584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgaattttcctatgttccGtaagatttgaggatcggtta	10	17	9	5	2	0	3	0	2	0	1	3	4	2	4	2	2	0	3	2	2	5	8	rs200866824		TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr19:23836584G>T	ENST00000359788.4	-	4	1319	c.1151C>A	c.(1150-1152)aCg>aAg	p.T384K	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	384					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTATGTTCCGTAAGATTTGA	0.383																																					p.T384K													.	ZNF675	88		0			c.C1151A												69	68	68					19																	23836584		2203	4300	6503	SO:0001583	missense	171392	exon4			TGTTCCGTAAGAT		CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1151C>A	19.37:g.23836584G>T	ENSP00000352836:p.Thr384Lys		50	0	0		64	0.05	3	NM_138330	14	0	0	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	9.810	1.182967	0.21870	.	.	ENSG00000197372	ENST00000359788	T	0.07688	3.17	0.225	0.225	0.15325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.01493	-0.835	0.09310	N	1	D	0.53619	0.961	P	0.46208	0.507	T	0.42666	-0.9438	9	0.62326	D	0.03	.	7.9744	0.30147	1.0E-4:0.0:0.9999:0.0	.	384	Q8TD23	ZN675_HUMAN	K	384	ENSP00000352836:T384K	ENSP00000352836:T384K	T	-	2	0	ZNF675	23628424	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-1.245000	0.02899	0.300000	0.22699	0.305000	0.20034	ACG			0.383	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466433.1		NM_138330		T	23836584	G	T	23836584	3	4	138	1	0	0	0	0	1	0	0	0	18105	1145	40	1	559	1	ZNF675	19	23836584	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	6796647	23836584	35292399	47	10229											
PAPL	390928	mdanderson.org	37	chr19	39589612	39589612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccattcagtttatcgctgtgGcagtgcgcagggctggagcc	6	10	14	11	2	1	0	1	0	0	0	2	1	1	1	2	3	2	5	2	3	1	3			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr19:39589612G>T	ENST00000331256.5	+	4	609	c.335G>T	c.(334-336)gGc>gTc	p.G112V	PAPL_ENST00000594229.1_Missense_Mutation_p.G112V	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		112						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										TATCGCTGTGGCAGTGCGCAG	0.657																																					p.G112V													.	.			0			c.G335T												39	43	41					19																	39589612		2203	4300	6503	SO:0001583	missense	0	exon4			GCTGTGGCAGTGC																												ENST00000331256.5:c.335G>T	19.37:g.39589612G>T	ENSP00000327557:p.Gly112Val		13	0	0		19	0.11	2	NM_001004318	0		0	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537814	0.85917	.	.	ENSG00000183760	ENST00000331256	D	0.88354	-2.37	5.01	5.01	0.66863	Purple acid phosphatase-like, N-terminal (1);Purple acid phosphatase, N-terminal (1);	0.062462	0.64402	D	0.000006	D	0.96137	0.8741	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97392	0.9990	10	0.87932	D	0	-32.1863	15.7812	0.78260	0.0:0.0:1.0:0.0	.	112	Q6ZNF0	PAPL_HUMAN	V	112	ENSP00000327557:G112V	ENSP00000327557:G112V	G	+	2	0	AC011443.1	44281452	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	8.861000	0.92277	2.302000	0.77476	0.563000	0.77884	GGC			0.657	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463810.1				T	39589612	G	T	39589612	3	4	138	1	0	0	0	0	1	0	0	0	11444	1203	42	2	345	2	PAPL	19	39589612	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	15753028	39589612	19539371	48	10230											
PPM1N	147699	mdanderson.org	37	chr19	46003744	46003744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcagaagccccccaGcctgaacacagttttcagga	10	8	8	15	0	3	2	2	1	1	1	3	3	3	3	4	1	4	2	4	1	2	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr19:46003744G>T	ENST00000451287.2	+	3	1088	c.1088G>T	c.(1087-1089)aGc>aTc	p.S363I	PPM1N_ENST00000396737.2_Missense_Mutation_p.S45I|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000456399.2_Missense_Mutation_p.S45I|PPM1N_ENST00000396736.2_Missense_Mutation_p.S45I|PPM1N_ENST00000401705.1_Missense_Mutation_p.S45I|PPM1N_ENST00000396735.2_Missense_Mutation_p.S45I|PPM1N_ENST00000401593.1_Missense_Mutation_p.S45I	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	363							magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						AAGCCCCCCAGCCTGAACACA	0.577																																					p.S363I													.	.			0			c.G1088T												23	24	23					19																	46003744		1919	4119	6038	SO:0001583	missense	147699	exon3			CCCCCAGCCTGAA	AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.1088G>T	19.37:g.46003744G>T	ENSP00000397050:p.Ser363Ile		38	0	0		51	0.06	3	NM_001080401	58	0	0	Q6P662	Missense_Mutation	SNP	ENST00000451287.2	37	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	g	12.05	1.822474	0.32237	.	.	ENSG00000213889	ENST00000401705;ENST00000456399;ENST00000396737;ENST00000451287;ENST00000396734;ENST00000396735;ENST00000401593;ENST00000402807;ENST00000396736	T	0.31769	1.48	3.55	1.35	0.21983	Protein serine/threonine phosphatase 2C, C-terminal (3);	.	.	.	.	T	0.27419	0.0673	L	0.44542	1.39	0.80722	D	1	B	0.30605	0.287	B	0.39299	0.296	T	0.13045	-1.0524	9	0.72032	D	0.01	.	4.7547	0.13077	0.123:0.2241:0.6529:0.0	.	363	Q8N819	PPM1N_HUMAN	I	45;45;45;363;363;45;45;45;45	ENSP00000397050:S363I	ENSP00000379960:S363I	S	+	2	0	PPM1N	50695584	1.000000	0.71417	0.966000	0.40874	0.568000	0.35870	2.195000	0.42677	0.482000	0.27582	0.651000	0.88453	AGC			0.577	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000326517.2		NM_001080401		T	46003744	G	T	46003744	3	4	138	1	0	0	0	0	1	0	0	0	12366	971	34	2	1098	2	PPM1N	19	46003744	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	6414132	46003744	13125239	49	10231											
GLTSCR1	29998	mdanderson.org	37	chr19	48182836	48182836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcccaccctgcagcctGcggatggcggggcaggcccg	5	4	16	16	3	0	0	0	0	0	0	0	1	0	1	4	5	5	3	4	5	0	0			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr19:48182836G>T	ENST00000396720.3	+	6	603	c.409G>T	c.(409-411)Gcg>Tcg	p.A137S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	137										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCTGCAGCCTGCGGATGGCGG	0.726																																					p.A137S													.	.			0			c.G409T												11	13	13					19																	48182836		683	1586	2269	SO:0001583	missense	29998	exon6			CAGCCTGCGGATG	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.409G>T	19.37:g.48182836G>T	ENSP00000379946:p.Ala137Ser		25	0	0		29	0.1	3	NM_015711	1	0	0	A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	G	8.699	0.909213	0.17833	.	.	ENSG00000063169	ENST00000396720	T	0.30448	1.53	4.77	4.77	0.60923	.	.	.	.	.	T	0.22589	0.0545	N	0.01576	-0.805	0.26715	N	0.970892	D	0.60575	0.988	P	0.56216	0.794	T	0.30297	-0.9983	9	0.29301	T	0.29	.	14.7072	0.69200	0.0:0.0:1.0:0.0	.	137	Q9NZM4	GSCR1_HUMAN	S	137	ENSP00000379946:A137S	ENSP00000379946:A137S	A	+	1	0	GLTSCR1	52874648	0.994000	0.37717	0.178000	0.23040	0.555000	0.35460	4.379000	0.59575	2.193000	0.70182	0.491000	0.48974	GCG			0.726	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465846.1		NM_015711		T	48182836	G	T	48182836	3	4	138	1	0	0	0	0	1	0	0	0	6488	1319	46	2	423	2	GLTSCR1	19	48182836	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	2179092	48182836	10946147	50	10232											
ELSPBP1	64100	mdanderson.org	37	chr19	48522982	48522982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataatccttttcagagtatgGgggaaattctctcaggaagc	12	12	10	7	0	3	1	2	0	1	1	5	3	4	3	1	3	1	1	1	3	4	5			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr19:48522982G>T	ENST00000339841.2	+	5	540	c.362G>T	c.(361-363)gGg>gTg	p.G121V	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	121					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCAGAGTATGGGGGAAATTCT	0.453																																					p.G121V													.	.			0			c.G362T												77	73	75					19																	48522982		2203	4300	6503	SO:0001583	missense	64100	exon5			AGTATGGGGGAAA	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.362G>T	19.37:g.48522982G>T	ENSP00000340660:p.Gly121Val		69	0	0		52	0.06	3	NM_022142	0		0	Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181285	0.38511	.	.	ENSG00000169393	ENST00000339841	T	0.09350	2.99	3.76	3.76	0.43208	Fibronectin, type II, collagen-binding (1);Kringle-like fold (1);	0.000000	0.51477	D	0.000092	T	0.22781	0.0550	M	0.89601	3.045	0.51482	D	0.999921	P	0.46859	0.885	B	0.44163	0.443	T	0.19418	-1.0306	10	0.72032	D	0.01	.	11.7957	0.52098	0.0:0.0:1.0:0.0	.	121	Q96BH3	ESPB1_HUMAN	V	121	ENSP00000340660:G121V	ENSP00000340660:G121V	G	+	2	0	ELSPBP1	53214794	1.000000	0.71417	0.693000	0.30195	0.319000	0.28217	3.422000	0.52749	2.030000	0.59900	0.561000	0.74099	GGG			0.453	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465207.1				T	48522982	G	T	48522982	3	4	138	1	0	0	0	0	1	0	0	0	5090	1232	43	3	376	3	ELSPBP1	19	48522982	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	340146	48522982	10606001	51	10233											
GRIN2D	2906	mdanderson.org	37	chr19	48945427	48945427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagatcgagatgctggagCggctgtggctctctgggatc	7	10	16	8	2	1	2	0	1	1	2	4	6	1	4	0	4	2	3	0	4	0	0			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr19:48945427C>T	ENST00000263269.3	+	12	2549	c.2461C>T	c.(2461-2463)Cgg>Tgg	p.R821W		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	821					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)	GATGCTGGAGCGGCTGTGGCT	0.547																																					p.R821W													.	.			0			c.C2461T												113	112	113					19																	48945427		2203	4300	6503	SO:0001583	missense	2906	exon12			CTGGAGCGGCTGT	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.2461C>T	19.37:g.48945427C>T	ENSP00000263269:p.Arg821Trp		36	0	0		23	0.13	3	NM_000836	1	0	0		Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005312	0.74932	.	.	ENSG00000105464	ENST00000263269	T	0.28255	1.62	4.34	3.28	0.37604	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	L	0.45352	1.415	0.45567	D	0.99851	D	0.89917	1.0	D	0.70716	0.97	T	0.36040	-0.9764	10	0.66056	D	0.02	.	10.9139	0.47124	0.3402:0.6598:0.0:0.0	.	821	O15399	NMDE4_HUMAN	W	821	ENSP00000263269:R821W	ENSP00000263269:R821W	R	+	1	2	GRIN2D	53637239	0.037000	0.19845	1.000000	0.80357	0.966000	0.64601	0.367000	0.20382	1.169000	0.42739	0.456000	0.33151	CGG			0.547	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466121.1				T	48945427	C	T	48945427	3	4	138	1	0	0	0	0	1	0	0	0	6797	759	27	1	2503	1	GRIN2D	19	48945427	Missense_Mutation	SNP	C	TCGA-YU-AA4L-01A-11D-A435-10	422445	48945427	10183556	52	10234											
SCRT2	85508	mdanderson.org	37	chr20	644429	644429	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagctcttgtcgcactggcgGcagcggtagtgcttgaaggc	7	9	15	10	3	1	1	0	1	1	0	2	1	1	1	0	4	3	5	0	4	3	3			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr20:644429G>T	ENST00000246104.6	-	2	1387	c.810C>A	c.(808-810)tgC>tgA	p.C270*	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	270					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	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)			kidney(1)|liver(1)|ovary(1)	3						CGCACTGGCGGCAGCGGTAGT	0.701																																					p.C270X													.	.			0			c.C810A												10	11	11					20																	644429		2166	4254	6420	SO:0001587	stop_gained	85508	exon2			CTGGCGGCAGCGG		CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"Zinc fingers, C2H2-type"	15952	protein-coding gene	gene with protein product			"scratch (drosophila homolog) 2, zinc finger protein", "scratch homolog 2, zinc finger protein (Drosophila)"			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.810C>A	20.37:g.644429G>T	ENSP00000246104:p.Cys270*		20	0	0		19	0.11	2	NM_033129	0		0		Nonsense_Mutation	SNP	ENST00000246104.6	37	CCDS13006.1	.	.	.	.	.	.	.	.	.	.	g	42	9.772457	0.99260	.	.	ENSG00000215397	ENST00000246104	.	.	.	3.66	3.66	0.41972	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4854	14.0792	0.64909	0.0:0.0:1.0:0.0	.	.	.	.	X	270	.	ENSP00000246104:C270X	C	-	3	2	SCRT2	592429	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.208000	0.77907	1.858000	0.53909	0.457000	0.33378	TGC			0.701	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253383.2		NM_033129		T	644429	G	T	644429	4	4	138	1	0	0	0	0	0	1	0	0	13965	1195	42	2	117	2	SCRT2	20	644429	Nonsense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10		644429	62381091	53	10235											
GPCPD1	56261	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	5528338	5528338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacgttatcaatgccgttgGcatccacatggatatcagac	11	10	8	12	2	2	1	2	0	0	1	3	2	3	2	3	2	1	3	3	2	3	3			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr20:5528338G>T	ENST00000379019.4	-	20	2200	c.1988C>A	c.(1987-1989)gCc>gAc	p.A663D	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	663					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AATGCCGTTGGCATCCACATG	0.473																																					p.A663D													.	.			0			c.C1988A												162	143	149					20																	5528338		2203	4300	6503	SO:0001583	missense	56261	exon20			CCGTTGGCATCCA		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1988C>A	20.37:g.5528338G>T	ENSP00000368305:p.Ala663Asp		61	0	0		110	0.05	5	NM_019593	22	0	0	D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.76|11.76	1.734234|1.734234	0.30684|0.30684	.|.	.|.	ENSG00000125772|ENSG00000125772	ENST00000378992;ENST00000379019|ENST00000418646	T|.	0.45276|.	0.9|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.354983|.	0.26411|.	N|.	0.024530|.	T|.	0.41119|.	0.1145|.	N|N	0.24115|0.24115	0.695|0.695	0.32930|0.32930	D|D	0.517041|0.517041	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|.	0.51076|.	-0.8751|.	10|.	0.56958|.	D|.	0.05|.	-11.6215|-11.6215	13.5022|13.5022	0.61462|0.61462	0.0:0.0:0.8038:0.1961|0.0:0.0:0.8038:0.1961	.|.	663|.	Q9NPB8|.	GPCP1_HUMAN|.	D|X	280;663|254	ENSP00000368305:A663D|.	ENSP00000368277:A280D|.	A|C	-|-	2|3	0|2	GPCPD1|GPCPD1	5476338|5476338	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.590000|0.590000	0.36582|0.36582	1.957000|1.957000	0.40392|0.40392	2.393000|2.393000	0.81446|0.81446	0.555000|0.555000	0.69702|0.69702	GCC|TGC			0.473	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077869.1		NM_019593		T	5528338	G	T	5528338	3	4	138	1	0	0	0	0	1	0	0	0	6617	1203	42	2	34	2	GPCPD1	20	5528338	Missense_Mutation	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	4883909	5528338	57497182	54	10236											
ZNF217	7764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	52198198	52198198	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccctggagtgcaagaccaGctggtggtaggttctgaaag	10	8	15	8	0	1	2	0	1	1	1	1	4	1	3	2	4	2	4	2	4	3	2			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr20:52198198G>A	ENST00000371471.2	-	2	1593	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Silent_p.L390L			O75362	ZN217_HUMAN	zinc finger protein 217	390					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCAAGACCAGCTGGTGGTAG	0.637																																					p.L390L													.	.			0			c.C1168T												72	73	73					20																	52198198		2203	4300	6503	SO:0001819	synonymous_variant	7764	exon1			AGACCAGCTGGTG	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1168C>T	20.37:g.52198198G>A			76	0	0		89	0.28	25	NM_006526	10	0.1	1	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																					0.637	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079757.2		NM_006526		A	52198198	G	A	52198198	2	1	138	1	0	0	0	0	0	0	0	1	17795	962	34	2		2	ZNF217	20	52198198	Silent	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10	46669860	52198198	10827322	55	10237											
HRH3	11255	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr20	60791521	60791522	+	Frame_Shift_Ins	INS	-	-	C																															cggagccgcccccaccgccaINScccccgagggtcgcctcccc																										TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr20:60791521_60791522insC	ENST00000340177.5	-	3	1162_1163	c.878_879insG	c.(877-879)ggtfs	p.G293fs	HRH3_ENST00000317393.6_Frame_Shift_Ins_p.G293fs	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	293	Poly-Gly.				brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	CCCCACCGCCACCCCCGAGGGT	0.733																																					p.G293fs													.	HRH3	25		0			c.879_880insG																																									SO:0001589	frameshift_variant	11255	exon3			ACCGCCACCCCCG	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.879dupG	20.37:g.60791526_60791526dupC	ENSP00000342560:p.Gly293fs		26	0	0		40	0.43	17	NM_007232	0		0	Q4QRI7|Q9GZX2|Q9H4K8	Frame_Shift_Ins	INS	ENST00000340177.5	37	CCDS13493.1																																																																																					0.733	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079994.1		NM_007232		C	60791522	-	C	60791521	7	5	138	1	0	1	1	0	0	0	0	0	7372	146	6	0	462	0	HRH3	20	60791521	Frame_Shift_Ins	INS	-	TCGA-YU-AA4L-01A-11D-A435-10	8593323	60791521	2233999	56	10238											
ZNF70	7621	broad.mit.edu	37	chr22	24087226	24087226	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacctctttcctgaagaaaAgggtcccccaggtcctcccc	10	8	7	16	0	1	2	0	1	1	1	5	2	5	2	7	2	1	0	7	2	4	1			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chr22:24087226A>G	ENST00000341976.3	-	2	562	c.102T>C	c.(100-102)ccT>ccC	p.P34P		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	34					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(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CCTGAAGAAAAGGGTCCCCCA	0.488																																					p.P34P													.	ZNF70	49		0			c.T102C												77	80	79					22																	24087226		2203	4300	6503	SO:0001819	synonymous_variant	7621	exon2			AAGAAAAGGGTCC	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.102T>C	22.37:g.24087226A>G			87	0	0		230	0.02	5	NM_021916	2	0	0		Silent	SNP	ENST00000341976.3	37	CCDS13812.1																																																																																					0.488	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319881.1		NM_021916		G	24087226	A	G	24087226	2	3	138	1	0	0	0	0	0	0	0	1	18126	59	3	4		4	ZNF70	22	24087226	Silent	SNP	A	TCGA-YU-AA4L-01A-11D-A435-10		24087226	27217340	57	10239											
MAOA	4128	mdanderson.org	37	chrX	43590942	43590942	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttgtgtgtgttttagtGcaaatacgtaattaatgcga	10	17	10	4	2	0	0	0	0	0	0	0	1	0	0	0	0	4	4	0	0	5	7			TCGA-YU-AA4L-01A-11D-A435-10	TCGA-YU-AA4L-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c166720-7105-4052-bcbd-b3f546b1043b	ef89d76a-cb3c-4473-888b-99ccd7d3dd3a	g.chrX:43590942G>T	ENST00000338702.3	+	8	920	c.797G>T	c.(796-798)tGc>tTc	p.C266F	MAOA_ENST00000542639.1_Splice_Site_p.C133F	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	266					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GTGTTTTAGTGCAAATACGTA	0.423																																					p.C266F													.	.			0			c.G797T												107	80	89					X																	43590942		2203	4300	6503	SO:0001630	splice_region_variant	4128	exon8			TTTAGTGCAAATA		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.796-1G>T	X.37:g.43590942G>T			47	0	0		61	0.07	4	NM_000240	6	0	0	B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512380	0.64522	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.92199	-2.99;-2.99	5.81	5.81	0.92471	Amine oxidase (1);	0.093465	0.64402	D	0.000001	D	0.93262	0.7853	L	0.46157	1.445	0.50632	D	0.999889	P	0.50156	0.932	P	0.56823	0.807	D	0.93788	0.7090	10	0.87932	D	0	.	14.6047	0.68469	0.0:0.1414:0.8586:0.0	.	266	P21397	AOFA_HUMAN	F	266;133	ENSP00000340684:C266F;ENSP00000440846:C133F	ENSP00000340684:C266F	C	+	2	0	MAOA	43475886	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.301000	0.65727	2.452000	0.82932	0.544000	0.68410	TGC			0.423	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056300.1		NM_000240	Missense_Mutation	T	43590942	G	T	43590942	5	4	138	1	0	0	0	0	0	0	1	0	9241	1333	46	2	827	2	MAOA	23	43590942	Splice_Site	SNP	G	TCGA-YU-AA4L-01A-11D-A435-10		43590942	111679618	58	10240											
SLC35E2	728661	mdanderson.org	37	chr1	1601537	1601537	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgacgaataatacttacGagaacctgtatttgtccccg	12	11	7	11	3	0	2	0	1	0	1	1	4	1	2	3	0	3	1	3	0	6	5	rs373497506		TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr1:1601537G>T	ENST00000378662.1	-	7	1521	c.761C>A	c.(760-762)tCg>tAg	p.S254*	SLC35E2B_ENST00000234800.6_Splice_Site_p.S254*|RP11-345P4.7_ENST00000596308.1_RNA			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	254						integral component of membrane (GO:0016021)				kidney(1)|lung(1)	2						TAATACTTACGAGAACCTGTA	0.433																																					p.S254X													.	.			0			c.C761A												219	182	193					1																	1601537		692	1591	2283	SO:0001630	splice_region_variant	728661	exon6			ACTTACGAGAACC		CCDS44041.1	1p36.33	2013-05-22			ENSG00000189339	ENSG00000189339		"Solute carriers"	33941	protein-coding gene	gene with protein product							Standard	XM_006710870		Approved		uc001ahg.4	P0CK96	OTTHUMG00000078639	ENST00000378662.1:c.761+1C>A	1.37:g.1601537G>T			52	0	0		44	0.07	3	NM_001110781	21	0	0	B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8	Nonsense_Mutation	SNP	ENST00000378662.1	37	CCDS44041.1	.	.	.	.	.	.	.	.	.	.	g	42	9.394112	0.99158	.	.	ENSG00000189339	ENST00000378662;ENST00000234800	.	.	.	5.64	5.64	0.86602	.	0.195095	0.36778	N	0.002406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.3204	18.681	0.91546	0.0:0.0:1.0:0.0	.	.	.	.	X	254	.	.	S	-	2	0	SLC35E2B	1591400	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.954000	0.70298	2.650000	0.89964	0.585000	0.79938	TCG			0.433	SLC35E2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000171589.1			Nonsense_Mutation	T	1601537	G	T	1601537	5	4	139	1	0	0	0	0	0	0	1	0	14608	1072	37	1	472	1	SLC35E2	1	1601537	Splice_Site	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		1601537	247649084	1	10241											
KIF1B	23095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	10394661	10394661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagaaaggtgaagtgcGgggatttctgcgtgtggctg	8	10	18	5	2	1	2	0	2	1	1	1	4	1	3	0	4	2	1	0	4	2	1			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr1:10394661G>A	ENST00000377086.1	+	28	3210	c.3008G>A	c.(3007-3009)cGg>cAg	p.R1003Q	KIF1B_ENST00000377081.1_Missense_Mutation_p.R1003Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.R957Q			O60333	KIF1B_HUMAN	kinesin family member 1B	1003					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)		GGTGAAGTGCGGGGATTTCTG	0.517																																					p.R957Q													.	.			0			c.G2870A												199	178	185					1																	10394661		2203	4300	6503	SO:0001583	missense	23095	exon26			AAGTGCGGGGATT	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.3008G>A	1.37:g.10394661G>A	ENSP00000366290:p.Arg1003Gln		75	0	0		73	0.22	16	NM_015074	9	0.11	1	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.361542	0.82353	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73047	-0.71;-0.71;-0.71	5.73	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	L	0.28400	0.85	0.58432	D	0.999997	P;P;P;P;P;B	0.51240	0.8;0.931;0.943;0.9;0.93;0.048	B;B;B;B;B;B	0.38755	0.229;0.174;0.229;0.281;0.194;0.005	T	0.62872	-0.6762	10	0.48119	T	0.1	.	15.0465	0.71830	0.0682:0.0:0.9318:0.0	.	989;963;1003;977;1003;957	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	Q	1003;957;1003;1003	ENSP00000263934:R957Q;ENSP00000366290:R1003Q;ENSP00000366284:R1003Q	ENSP00000263934:R957Q	R	+	2	0	KIF1B	10317248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.994000	0.88315	1.557000	0.49525	0.655000	0.94253	CGG			0.517	KIF1B-001	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000005102.1				A	10394661	G	A	10394661	3	1	139	1	0	0	0	0	1	0	0	0	8299	1116	39	1	4457	1	KIF1B	1	10394661	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	8793124	10394661	238855960	2	10242											
CDCP2	200008	mdanderson.org	37	chr1	54618525	54618525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagagtgcctaccttccatgGcttgggcctggagccctggg	6	9	14	12	0	0	1	0	0	0	1	1	2	1	2	5	4	3	1	5	4	2	3			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr1:54618525G>T	ENST00000371330.1	-	1	918	c.71C>A	c.(70-72)gCc>gAc	p.A24D	RP11-446E24.4_ENST00000525949.1_Intron|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	24						extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACCTTCCATGGCTTGGGCCTG	0.637																																					p.A24D													.	.			0			c.C71A												79	82	81					1																	54618525		2203	4300	6503	SO:0001583	missense	200008	exon1			TCCATGGCTTGGG		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.71C>A	1.37:g.54618525G>T	ENSP00000360381:p.Ala24Asp		88	0	0		80	0.05	4	NM_201546	0		0	Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159857	0.57368	.	.	ENSG00000157211	ENST00000371330	T	0.29917	1.55	4.96	2.96	0.34315	.	0.312106	0.26366	N	0.024783	T	0.27384	0.0672	L	0.36672	1.1	0.31161	N	0.704337	P	0.52316	0.952	P	0.46585	0.521	T	0.19257	-1.0311	10	0.36615	T	0.2	-25.3283	10.9167	0.47139	0.0:0.3991:0.6009:0.0	.	24	Q5VXM1	CDCP2_HUMAN	D	24	ENSP00000360381:A24D	ENSP00000360381:A24D	A	-	2	0	CDCP2	54391113	0.937000	0.31787	0.998000	0.56505	0.584000	0.36387	1.487000	0.35540	1.273000	0.44346	0.650000	0.86243	GCC			0.637	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000022209.2		NM_201546		T	54618525	G	T	54618525	3	4	139	1	0	0	0	0	1	0	0	0	3096	1203	42	2	1294	2	CDCP2	1	54618525	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	44223864	54618525	194632096	3	10243											
PGBD2	267002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	249211094	249211094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaagaagaggcagaaagCagttgtgaaacctcagcgca	16	4	12	9	1	1	4	1	1	0	3	1	4	1	4	2	1	4	4	2	1	4	1			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr1:249211094C>G	ENST00000329291.5	+	3	458	c.311C>G	c.(310-312)gCa>gGa	p.A104G	PGBD2_ENST00000539153.1_Missense_Mutation_p.A101G|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	104										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)			AGGCAGAAAGCAGTTGTGAAA	0.517																																					p.A104G													.	.			0			c.C311G												58	61	60					1																	249211094		2203	4300	6503	SO:0001583	missense	267002	exon3			AGAAAGCAGTTGT	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.311C>G	1.37:g.249211094C>G	ENSP00000331643:p.Ala104Gly		52	0	0		65	0.28	18	NM_170725	30	0.47	14	B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	C	8.225	0.803391	0.16397	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.12147	2.71;2.71	3.84	-0.517	0.11947	.	.	.	.	.	T	0.09202	0.0227	L	0.43152	1.355	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.39078	-0.9631	9	0.22706	T	0.39	0.0094	2.8085	0.05434	0.2022:0.4497:0.0:0.348	.	101;104	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	G	104;101	ENSP00000331643:A104G;ENSP00000439950:A101G	ENSP00000331643:A104G	A	+	2	0	PGBD2	247177717	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.423000	0.07034	0.091000	0.17302	-0.140000	0.14226	GCA			0.517	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000097318.1				G	249211094	C	G	249211094	3	3	139	1	0	0	0	0	1	0	0	0	11798	710	25	5	317	5	PGBD2	1	249211094	Missense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10	194592569	249211094	39527	4	10244											
BIRC6	57448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	32667481	32667481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctttgaggcaggacgaaGtatagcccataagtgtgccc	10	10	11	10	1	1	1	0	1	1	0	1	3	1	2	2	2	2	2	2	2	4	5			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr2:32667481G>T	ENST00000421745.2	+	19	4330	c.4196G>T	c.(4195-4197)aGt>aTt	p.S1399I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1399					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)					GCAGGACGAAGTATAGCCCAT	0.403																																					p.S1399I	Pancreas(94;175 1509 16028 18060 45422)												.	.			0			c.G4196T												136	128	131					2																	32667481		2203	4300	6503	SO:0001583	missense	57448	exon19			GACGAAGTATAGC	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.4196G>T	2.37:g.32667481G>T	ENSP00000393596:p.Ser1399Ile		57	0	0		90	0.1	9	NM_016252	4	0	0	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	30	5.051876	0.93793	.	.	ENSG00000115760	ENST00000421745	D	0.82344	-1.6	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	M	0.73598	2.24	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	D	0.91834	0.5478	10	0.87932	D	0	.	18.1639	0.89718	0.0:0.0:1.0:0.0	.	1399	Q9NR09	BIRC6_HUMAN	I	1399	ENSP00000393596:S1399I	ENSP00000393596:S1399I	S	+	2	0	BIRC6	32520985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.270000	0.75569	0.650000	0.86243	AGT			0.403	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318769.3		NM_016252		T	32667481	G	T	32667481	3	4	139	1	0	0	0	0	1	0	0	0	1438	1029	36	3	4270	3	BIRC6	2	32667481	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		32667481	210531892	5	10245											
GPR39	2863	hgsc.bcm.edu	37	chr2	133175021	133175021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctttgagcgctacatcGccatctgtcaccccttcagg	7	11	8	15	2	4	1	3	1	1	0	5	1	4	1	3	1	3	2	3	1	1	3			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr2:133175021G>A	ENST00000329321.3	+	1	875	c.406G>A	c.(406-408)Gcc>Acc	p.A136T		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	136					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGCTACATCGCCATCTGTCA	0.602																																					p.A136T													GPR39,NS,carcinoma,0,1	GPR39	0	1	0			c.G406A												105	90	95					2																	133175021		2203	4300	6503	SO:0001583	missense	2863	exon1			TACATCGCCATCT	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.406G>A	2.37:g.133175021G>A	ENSP00000327417:p.Ala136Thr		62	0	0		74	0.04	3	NM_001508	5	0	0	B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293279	0.95546	.	.	ENSG00000183840	ENST00000329321	T	0.53423	0.62	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80863	-0.1192	10	0.87932	D	0	.	19.0852	0.93201	0.0:0.0:1.0:0.0	.	136	O43194	GPR39_HUMAN	T	136	ENSP00000327417:A136T	ENSP00000327417:A136T	A	+	1	0	GPR39	132891491	1.000000	0.71417	0.963000	0.40424	0.989000	0.77384	9.631000	0.98424	2.749000	0.94314	0.650000	0.86243	GCC			0.602	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254582.1				A	133175021	G	A	133175021	3	1	139	1	0	0	0	0	1	0	0	0	6707	1087	38	1	408	1	GPR39	2	133175021	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	100507540	133175021	110024352	6	10246											
TMEM175	84286	mdanderson.org	37	chr4	947055	947055	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctctgcccacagggctctGtaccgacgacacgtcctggg	6	7	12	16	4	2	0	0	0	2	0	3	2	3	0	3	2	2	3	3	2	1	1			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr4:947055G>T	ENST00000264771.4	+	8	725	c.540G>T	c.(538-540)ctG>ctT	p.L180L	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Silent_p.L64L|TMEM175_ENST00000508204.1_Silent_p.L98L	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	180						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACAGGGCTCTGTACCGACGAC	0.617																																					p.L180L													.	.			0			c.G540T												123	101	109					4																	947055		2203	4300	6503	SO:0001819	synonymous_variant	84286	exon8			GGCTCTGTACCGA	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.540G>T	4.37:g.947055G>T			66	0	0		41	0.07	3	NM_032326	29	0	0	D3DVN4|Q8ND13	Silent	SNP	ENST00000264771.4	37	CCDS3341.1																																																																																					0.617	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239193.2		NM_032326		T	947055	G	T	947055	2	4	139	1	0	0	0	0	0	0	0	1	16114	1364	48	3		3	TMEM175	4	947055	Silent	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		947055	190207221	7	10247											
DSPP	1834	ucsc.edu	37	chr4	88536880	88536880	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaatagtagtgacagcagCaatagcagtgacagcagcaa	17	6	11	7	0	0	2	0	2	0	0	0	2	0	2	0	0	5	7	0	0	6	4			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr4:88536880C>T	ENST00000282478.7	+	4	3099	c.3066C>T	c.(3064-3066)agC>agT	p.S1022S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S1022S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1022	Asp/Ser-rich.			S -> G (in Ref. 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcaatagcagtg	0.517																																					p.S1022S													.	DSPP	174		0			c.C3066T												43	36	39					4																	88536880		1598	2799	4397	SO:0001819	synonymous_variant	1834	exon5			CAGCAGCAATAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3066C>T	4.37:g.88536880C>T			63	0.0158730159	1		44	0.09	4	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.517	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		T	88536880	C	T	88536880	2	4	139	1	0	0	0	0	0	0	0	1	4787	709	25	2		2	DSPP	4	88536880	Silent	SNP	C	TCGA-YU-AA61-01A-11D-A435-10	87589825	88536880	102617396	8	10248											
HERC5	51191	broad.mit.edu;bcgsc.ca	37	chr4	89388236	89388236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacttgcctatgtttctgAtttgggaaaggtcttttcct	7	17	8	9	0	2	1	0	1	2	0	3	2	3	2	2	2	1	1	2	2	2	6			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr4:89388236A>G	ENST00000264350.3	+	7	1091	c.938A>G	c.(937-939)gAt>gGt	p.D313G	HERC5_ENST00000508159.1_5'Flank	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	313					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TATGTTTCTGATTTGGGAAAG	0.393																																					p.D313G	Esophageal Squamous(39;887 1012 34045 50514)												.	HERC5	114		0			c.A938G												180	178	178					4																	89388236		2203	4300	6503	SO:0001583	missense	51191	exon7			TTTCTGATTTGGG	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.938A>G	4.37:g.89388236A>G	ENSP00000264350:p.Asp313Gly		117	0.0085470085	1		83	0.07	6	NM_016323	33	0.03	1	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633794	0.29068	.	.	ENSG00000138646	ENST00000264350	D	0.82711	-1.64	4.32	1.9	0.25705	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.536026	0.17732	N	0.163865	T	0.74306	0.3699	L	0.51422	1.61	0.58432	D	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.67546	-0.5643	10	0.62326	D	0.03	.	4.3011	0.10925	0.6202:0.1725:0.2073:0.0	.	313	Q9UII4	HERC5_HUMAN	G	313	ENSP00000264350:D313G	ENSP00000264350:D313G	D	+	2	0	HERC5	89607259	0.175000	0.23083	0.968000	0.41197	0.997000	0.91878	0.949000	0.29109	0.437000	0.26423	0.477000	0.44152	GAT			0.393	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253554.2		NM_016323		G	89388236	A	G	89388236	3	3	139	1	0	0	0	0	1	0	0	0	7076	333	12	4	964	4	HERC5	4	89388236	Missense_Mutation	SNP	A	TCGA-YU-AA61-01A-11D-A435-10	851356	89388236	101766040	9	10249											
MEGF10	84466	mdanderson.org	37	chr5	126753482	126753482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtgtgactggaaagtGcacctgtgccccaggattca	10	9	12	10	0	1	2	1	2	0	0	1	4	1	4	3	2	2	1	3	2	1	1			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr5:126753482G>T	ENST00000274473.6	+	11	1550	c.1283G>T	c.(1282-1284)tGc>tTc	p.C428F	MEGF10_ENST00000508365.1_Missense_Mutation_p.C428F|MEGF10_ENST00000503335.2_Missense_Mutation_p.C428F|MEGF10_ENST00000418761.2_Missense_Mutation_p.C428F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	428	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACTGGAAAGTGCACCTGTGCC	0.502																																					p.C428F													MEGF10,NS,adenocarcinoma,-1,1	MEGF10	-1	1	0			c.G1283T												76	64	68					5																	126753482		2203	4300	6503	SO:0001583	missense	84466	exon10			GAAAGTGCACCTG	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1283G>T	5.37:g.126753482G>T	ENSP00000274473:p.Cys428Phe		52	0	0		39	0.08	3	NM_001256545	3	0	0	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817067	0.90790	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.69	5.69	0.88448	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94185	0.8134	H	0.99682	4.7	0.80722	D	1	D;P	0.71674	0.998;0.941	D;P	0.74674	0.984;0.821	D	0.96604	0.9447	10	0.87932	D	0	-19.465	19.8251	0.96614	0.0:0.0:1.0:0.0	.	428;428	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	F	428	ENSP00000423354:C428F;ENSP00000423195:C428F;ENSP00000416284:C428F;ENSP00000274473:C428F	ENSP00000274473:C428F	C	+	2	0	MEGF10	126781381	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.864000	0.99589	2.692000	0.91855	0.655000	0.94253	TGC			0.502	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250973.2		NM_032446		T	126753482	G	T	126753482	3	4	139	1	0	0	0	0	1	0	0	0	9476	1319	46	2	1317	2	MEGF10	5	126753482	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		126753482	54161778	10	10250											
PCDHB4	56131	hgsc.bcm.edu	37	chr5	140503155	140503155	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	5	7	16	13	6	0	0	0	0	0	0	2	3	1	0	2	3	2	3	2	3	1	3			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr5:140503155G>T	ENST00000194152.1	+	1	1575	c.1575G>T	c.(1573-1575)gcG>gcT	p.A525A	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	525	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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.682																																					p.A525A													PCDHB4,caecum,carcinoma,+1,1	PCDHB4	1	1	0			c.G1575T												69	78	75					5																	140503155		2203	4298	6501	SO:0001819	synonymous_variant	56131	exon1			GCAGGCGTTCGAG	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1575G>T	5.37:g.140503155G>T			40	0.05	2		33	0.12	4	NM_018938	0		0	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																					0.682	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251812.2		NM_018938		T	140503155	G	T	140503155	2	4	139	1	0	0	0	0	0	0	0	1	11561	1132	40	1		1	PCDHB4	5	140503155	Silent	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	13749673	140503155	40412105	11	10251											
GABRA1	2554	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	161277838	161277838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaaaagtccaggtctgTctgactgtctttgggcctgg	7	12	14	8	0	3	2	0	2	3	0	4	3	4	3	2	4	0	0	2	4	2	1			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr5:161277838T>C	ENST00000428797.2	+	3	377	c.22T>C	c.(22-24)Tct>Cct	p.S8P	GABRA1_ENST00000393943.4_Missense_Mutation_p.S8P|GABRA1_ENST00000437025.2_Missense_Mutation_p.S8P|GABRA1_ENST00000444819.1_Missense_Mutation_p.S8P|GABRA1_ENST00000023897.6_Missense_Mutation_p.S8P|GABRA1_ENST00000420560.1_Missense_Mutation_p.S8P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	8					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCCAGGTCTGTCTGACTGTCT	0.443																																					p.S8P													.	.			0			c.T22C												112	107	109					5																	161277838		2203	4300	6503	SO:0001583	missense	2554	exon3			GGTCTGTCTGACT		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.22T>C	5.37:g.161277838T>C	ENSP00000393097:p.Ser8Pro		69	0	0		53	0.15	8	NM_001127643	0		0	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	8.398	0.841233	0.16891	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-0.46;-1.25;-0.56;-1.25;-0.54	5.37	2.78	0.32641	.	0.568216	0.19121	N	0.122169	T	0.57932	0.2087	N	0.14661	0.345	0.20196	N	0.999927	B	0.02656	0.0	B	0.01281	0.0	T	0.42548	-0.9445	10	0.30078	T	0.28	.	7.4385	0.27169	0.0:0.2009:0.0:0.7991	.	8	P14867	GBRA1_HUMAN	P	8;8;8;8;14;8;8;8;8	ENSP00000023897:S8P;ENSP00000393097:S8P;ENSP00000377517:S8P;ENSP00000415441:S8P;ENSP00000430895:S14P;ENSP00000408041:S8P;ENSP00000430507:S8P;ENSP00000414232:S8P;ENSP00000430435:S8P	ENSP00000023897:S8P	S	+	1	0	GABRA1	161210416	1.000000	0.71417	0.690000	0.30148	0.684000	0.39900	1.326000	0.33735	0.278000	0.22164	0.524000	0.50904	TCT			0.443	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252702.2		NM_000806.5		C	161277838	T	C	161277838	3	2	139	1	0	0	0	0	1	0	0	0	6173	1667	58	4	24	4	GABRA1	5	161277838	Missense_Mutation	SNP	T	TCGA-YU-AA61-01A-11D-A435-10	20774683	161277838	19637422	12	10252											
PPARD	5467	mdanderson.org	37	chr6	35391795	35391795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgactgcaaacgaggggaGccagtacaacccacaggtgg	12	4	14	11	1	0	1	0	1	0	0	0	3	0	2	2	4	5	3	2	4	3	1			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr6:35391795G>T	ENST00000311565.4	+	7	846	c.497G>T	c.(496-498)aGc>aTc	p.S166I	PPARD_ENST00000444397.1_Missense_Mutation_p.S166I|PPARD_ENST00000540939.1_Missense_Mutation_p.S63I|PPARD_ENST00000360694.3_Missense_Mutation_p.S166I|PPARD_ENST00000337400.2_Missense_Mutation_p.S166I|PPARD_ENST00000448077.2_Missense_Mutation_p.S127I|PPARD_ENST00000418635.2_Missense_Mutation_p.S68I	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	166					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AACGAGGGGAGCCAGTACAAC	0.567																																					p.S166I													.	.			0			c.G497T												85	88	87					6																	35391795		2203	4300	6503	SO:0001583	missense	5467	exon7			AGGGGAGCCAGTA	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.497G>T	6.37:g.35391795G>T	ENSP00000310928:p.Ser166Ile		34	0	0		38	0.08	3	NM_001171818	26	0	0	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	9.760	1.169751	0.21621	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.94793	-3.31;-3.33;-3.2;-3.52;-3.33;-3.52;-3.29	4.51	-0.123	0.13527	.	0.617998	0.18901	N	0.128029	T	0.73776	0.3630	N	0.22421	0.69	0.26040	N	0.981627	B;B;B;B	0.33694	0.421;0.138;0.29;0.089	B;B;B;B	0.26693	0.072;0.032;0.032;0.052	T	0.68465	-0.5401	10	0.51188	T	0.08	.	1.8265	0.03122	0.315:0.1337:0.4157:0.1356	.	68;127;166;166	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	I	127;166;68;166;166;166;63	ENSP00000414372:S127I;ENSP00000353916:S166I;ENSP00000413314:S68I;ENSP00000410837:S166I;ENSP00000310928:S166I;ENSP00000337063:S166I;ENSP00000443759:S63I	ENSP00000310928:S166I	S	+	2	0	PPARD	35499773	0.964000	0.33143	0.912000	0.35992	0.568000	0.35870	1.519000	0.35888	-0.250000	0.09555	0.467000	0.42956	AGC			0.567	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040288.1		NM_006238		T	35391795	G	T	35391795	3	4	139	1	0	0	0	0	1	0	0	0	12315	971	34	2	528	2	PPARD	6	35391795	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		35391795	135723272	13	10253											
TAAR9	134860	broad.mit.edu	37	chr6	132860291	132860291	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttatatgaattttataaCtcctccttatgtttatgaga	11	19	5	6	0	0	2	0	2	0	1	2	3	2	2	2	0	2	2	2	0	7	8			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr6:132860291C>A	ENST00000434551.1	+	0	863					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		AATTTTATAACTCCTCCTTAT	0.373																																					.	Colon(10;433 445 15992 45047 47213)												.	.			0			.												107	100	102					6																	132860291		1866	4109	5975			134860	.			TTATAACTCCTCC	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"GPCR / Class A : Trace amine associated receptors"	20977	protein-coding gene	gene with protein product		608282	"trace amine receptor 3", "trace amine associated receptor 9"	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860291C>A			76	0	0		99	0.04	4	.	0		0		RNA	SNP	ENST00000434551.1	37																																																																																						0.373	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000042254.2		NM_175057		A	132860291	C	A	132860291	1	1	139	0	1	0	0	0	0	0	0	0	15517	565	20	3		3	TAAR9	6	132860291	RNA	SNP	C	TCGA-YU-AA61-01A-11D-A435-10	97468496	132860291	38254776	14	10254											
SNX9	51429	bcgsc.ca;mdanderson.org	37	chr6	158296192	158296192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggccagttcgtcggctgCcagcaacaatcaccaggtac	10	7	10	14	2	2	0	2	0	0	0	4	0	2	0	3	3	4	4	3	3	3	2			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr6:158296192C>T	ENST00000392185.3	+	4	455	c.284C>T	c.(283-285)gCc>gTc	p.A95V	RP11-52J3.2_ENST00000457427.1_RNA|RP11-52J3.2_ENST00000422776.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	95					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)		TCGTCGGCTGCCAGCAACAAT	0.483																																					p.A95V													.	SNX9	43		0			c.C284T												84	70	75					6																	158296192		2203	4300	6503	SO:0001583	missense	51429	exon4			CGGCTGCCAGCAA	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.284C>T	6.37:g.158296192C>T	ENSP00000376024:p.Ala95Val		95	0	0		104	0.05	5	NM_016224	55	0	0	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301155	0.23650	.	.	ENSG00000130340	ENST00000539592;ENST00000392185	T	0.46819	0.86	5.62	4.74	0.60224	.	0.937004	0.08676	N	0.910064	T	0.16981	0.0408	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02365	-1.1170	10	0.46703	T	0.11	-0.7649	12.222	0.54439	0.0:0.9173:0.0:0.0827	.	95	Q9Y5X1	SNX9_HUMAN	V	95	ENSP00000376024:A95V	ENSP00000376024:A95V	A	+	2	0	SNX9	158216180	0.212000	0.23540	1.000000	0.80357	0.026000	0.11368	0.676000	0.25247	2.613000	0.88420	0.557000	0.71058	GCC			0.483	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042856.1				T	158296192	C	T	158296192	3	4	139	1	0	0	0	0	1	0	0	0	14932	739	26	2	298	2	SNX9	6	158296192	Missense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10	25435901	158296192	12818875	15	10255											
KIAA0415	9907	mdanderson.org	37	chr7	4828510	4828510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagcccatggccggCtgtgcccgcgtggcccagtg	3	7	15	16	3	0	0	0	0	0	0	0	0	0	0	4	3	4	3	4	3	0	0			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr7:4828510C>T	ENST00000348624.4	+	13	1729	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Silent_p.G545G	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	545					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)											CCATGGCCGGCTGTGCCCGCG	0.701																																					p.G545G													KIAA0415_ENST00000450194,NS,carcinoma,+1,2	KIAA0415_ENST00000450194	1	2	0			c.C1635T												16	19	18					7																	4828510		2182	4268	6450	SO:0001819	synonymous_variant	9907	exon13			GGCCGGCTGTGCC	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.1635C>T	7.37:g.4828510C>T			32	0	0		35	0.09	3	NM_014855	42	0	0	Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	CCDS47528.1																																																																																					0.701	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323771.1				T	4828510	C	T	4828510	2	4	139	1	0	0	0	0	0	0	0	1	8190	784	28	2		2	KIAA0415	7	4828510	Silent	SNP	C	TCGA-YU-AA61-01A-11D-A435-10		4828510	154310153	16	10256											
RADIL	55698	mdanderson.org	37	chr7	4876055	4876055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcgagtaccgcatggcGtcggggccgggctcctcggg	5	6	17	13	6	0	0	0	0	0	0	3	1	1	0	3	5	3	3	3	5	2	2	rs200447001	byFrequency	TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr7:4876055G>T	ENST00000399583.3	-	3	904	c.717C>A	c.(715-717)gaC>gaA	p.D239E	RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.D239E	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	239			D -> N (in dbSNP:rs3763384). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:19690332}.		multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACCGCATGGCGTCGGGGCCGG	0.706													G|||	11	0.00219649	0.0083	0	5008	,	,		13147	0		0	False		,,,				2504	0				p.D239E													.	.			0			c.C717A							G	GLU/ASP	18,4114		0,18,2048	13	20	18		717	3	0	7		18	0,8362		0,0,4181	yes	missense	RADIL	NM_018059.4	45	0,18,6229	TT,TG,GG		0.0,0.4356,0.1441	benign	239/1076	4876055	18,12476	2066	4181	6247	SO:0001583	missense	55698	exon3			CATGGCGTCGGGG	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.717C>A	7.37:g.4876055G>T	ENSP00000382492:p.Asp239Glu		39	0	0		45	0.07	3	NM_018059	12	0	0	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.646	0.120135	0.08881	0.004356	0.0	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.22945	3.34;1.93	4.85	2.99	0.34606	.	0.607882	0.16897	N	0.195056	T	0.10680	0.0261	N	0.10664	0.02	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35201	-0.9798	10	0.06236	T	0.91	-25.6462	9.4722	0.38849	0.0:0.1551:0.6839:0.161	.	239	Q96JH8	RADIL_HUMAN	E	239;213;239	ENSP00000382492:D239E;ENSP00000442533:D239E	ENSP00000320946:D213E	D	-	3	2	RADIL	4842581	0.011000	0.17503	0.029000	0.17559	0.005000	0.04900	0.486000	0.22340	0.429000	0.26202	0.462000	0.41574	GAC	0.001		0.706	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323769.2		NM_018059		T	4876055	G	T	4876055	3	4	139	1	0	0	0	0	1	0	0	0	13020	1136	40	1	2562	1	RADIL	7	4876055	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	47545	4876055	154262608	17	10257											
TWIST1	7291	mdanderson.org	37	chr7	19156362	19156362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgcggacatggaccaggCcccctccatcctccagaccg	8	4	11	18	3	0	1	0	0	0	1	3	4	3	4	7	4	0	0	7	4	0	0			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr7:19156362C>T	ENST00000242261.5	-	1	933	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	195					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)			lung(2)|upper_aerodigestive_tract(1)	3						ATGGACCAGGCCCCCTCCATC	0.677																																					p.A195T													.	.			0			c.G583A												34	31	32					7																	19156362		2202	4299	6501	SO:0001583	missense	7291	exon1			ACCAGGCCCCCTC	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.583G>A	7.37:g.19156362C>T	ENSP00000242261:p.Ala195Thr		40	0	0		37	0.08	3	NM_000474	76	0	0	A4D128|Q92487|Q99804	Missense_Mutation	SNP	ENST00000242261.5	37	CCDS5367.1	.	.	.	.	.	.	.	.	.	.	c	18.87	3.716471	0.68844	.	.	ENSG00000122691	ENST00000242261	D	0.97114	-4.25	4.29	4.29	0.51040	.	0.144352	0.31301	N	0.007887	D	0.97176	0.9077	M	0.77820	2.39	0.51482	D	0.999924	P	0.47910	0.902	P	0.48552	0.581	D	0.97629	1.0141	10	0.54805	T	0.06	-13.0343	16.5828	0.84718	0.0:1.0:0.0:0.0	.	195	Q15672	TWST1_HUMAN	T	195	ENSP00000242261:A195T	ENSP00000242261:A195T	A	-	1	0	TWIST1	19122887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.787000	0.69013	2.217000	0.71921	0.449000	0.29647	GCC			0.677	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207625.1		NM_000474		T	19156362	C	T	19156362	3	4	139	1	0	0	0	0	1	0	0	0	16807	739	26	2	29	2	TWIST1	7	19156362	Missense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10	14280307	19156362	139982301	18	10258											
KCNH2	3757	mdanderson.org	37	chr7	150644785	150644785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggggcctggggctggaGaagggcaccaggcggagggg	6	2	24	9	2	0	1	0	0	0	1	0	3	0	2	3	11	0	2	3	11	1	0			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr7:150644785G>T	ENST00000262186.5	-	12	3275	c.2874C>A	c.(2872-2874)ttC>ttA	p.F958L	KCNH2_ENST00000392968.2_Missense_Mutation_p.F862L|KCNH2_ENST00000330883.4_Missense_Mutation_p.F618L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	958					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)	TGGGGCTGGAGAAGGGCACCA	0.721																																					p.F958L	GBM(137;110 1844 13671 20123 45161)												.	.			0			c.C2874A												5	7	6					7																	150644785		2112	4123	6235	SO:0001583	missense	3757	exon12			GCTGGAGAAGGGC	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.2874C>A	7.37:g.150644785G>T	ENSP00000262186:p.Phe958Leu		54	0.0185185185	1		40	0.08	3	NM_000238	4	0	0	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322547	0.60634	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	D;D;D	0.98400	-4.61;-4.69;-4.91	4.84	4.84	0.62591	.	0.264488	0.34986	N	0.003523	D	0.94122	0.8115	N	0.25647	0.755	0.80722	D	1	B;B;B	0.30326	0.276;0.276;0.187	B;B;B	0.25140	0.045;0.045;0.058	D	0.92972	0.6398	10	0.07990	T	0.79	.	13.455	0.61193	0.0:0.0:1.0:0.0	.	862;958;618	C4PFH9;Q12809;Q12809-2	.;KCNH2_HUMAN;.	L	618;862;958	ENSP00000328531:F618L;ENSP00000376695:F862L;ENSP00000262186:F958L	ENSP00000262186:F958L	F	-	3	2	KCNH2	150275718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.649000	0.46656	2.228000	0.72767	0.561000	0.74099	TTC			0.721	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350741.2		NM_000238		T	150644785	G	T	150644785	3	4	139	1	0	0	0	0	1	0	0	0	8047	933	33	3	621	3	KCNH2	7	150644785	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	131488423	150644785	8493878	19	10259											
TNKS	8658	mdanderson.org	37	chr8	9627763	9627763	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatatgtcatctacagAggagaacaggtatgttactc	13	11	10	7	0	2	3	1	1	1	2	3	4	2	3	0	2	3	3	0	2	6	4			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr8:9627763A>G	ENST00000310430.6	+	26	3914	c.3888A>G	c.(3886-3888)agA>agG	p.R1296R	TNKS_ENST00000518281.1_Silent_p.R1059R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1296	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)		TCATCTACAGAGGAGAACAGG	0.463																																					p.R1296R													.	.			0			c.A3888G												67	56	60					8																	9627763		2201	4298	6499	SO:0001819	synonymous_variant	8658	exon26			CTACAGAGGAGAA	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.3888A>G	8.37:g.9627763A>G			41	0	0		39	0.08	3	NM_003747	24	0	0	O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	CCDS5974.1																																																																																					0.463	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206935.1		NM_003747		G	9627763	A	G	9627763	2	3	139	1	0	0	0	0	0	0	0	1	16342	301	11	4		4	TNKS	8	9627763	Silent	SNP	A	TCGA-YU-AA61-01A-11D-A435-10		9627763	136736259	20	10260											
KIAA1279	26128	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	70760227	70760227	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagaaattgaaactgcAcaggcttacctagagtcatc	16	8	9	8	0	1	4	1	1	0	3	2	5	1	4	1	1	3	2	1	1	5	3			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr10:70760227A>C	ENST00000361983.4	+	2	576	c.474A>C	c.(472-474)gcA>gcC	p.A158A		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	158					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TTGAAACTGCACAGGCTTACC	0.318																																					p.A158A													.	.			0			c.A474C												128	131	130					10																	70760227		2203	4299	6502	SO:0001819	synonymous_variant	26128	exon2			AACTGCACAGGCT	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.474A>C	10.37:g.70760227A>C			27	0	0		33	0.33	11	NM_015634	27	0.52	14	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Silent	SNP	ENST00000361983.4	37	CCDS7284.1																																																																																					0.318	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048370.1		NM_015634		C	70760227	A	C	70760227	2	2	139	1	0	0	0	0	0	0	0	1	8236	146	6	4		4	KIAA1279	10	70760227	Silent	SNP	A	TCGA-YU-AA61-01A-11D-A435-10		70760227	64774520	21	10261											
EXOSC1	51013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	99205531	99205531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagacagccggcaagcgaCgaaaagatgtagccgtggcg	13	4	14	10	5	1	2	1	0	0	2	1	4	1	2	2	2	3	2	2	2	4	1			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr10:99205531C>T	ENST00000370902.3	-	2	136	c.105G>A	c.(103-105)tcG>tcA	p.S35S	ZDHHC16_ENST00000345745.5_5'Flank|ZDHHC16_ENST00000370842.2_5'Flank|EXOSC1_ENST00000370886.5_Silent_p.S35S|EXOSC1_ENST00000485122.2_Silent_p.S35S|ZDHHC16_ENST00000393760.1_5'Flank|EXOSC1_ENST00000471049.1_5'UTR|ZDHHC16_ENST00000352634.4_5'Flank|ZDHHC16_ENST00000370846.4_5'Flank|EXOSC1_ENST00000370885.4_Silent_p.S35S|ZDHHC16_ENST00000370854.3_5'Flank|ZDHHC16_ENST00000353979.3_5'Flank	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	35					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)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CGGCAAGCGACGAAAAGATGT	0.582											OREG0020413	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S35S													.	.			0			c.G105A												39	41	40					10																	99205531		2203	4300	6503	SO:0001819	synonymous_variant	51013	exon2			AAGCGACGAAAAG	AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"CSL4 exosomal core protein homolog (yeast)"	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.105G>A	10.37:g.99205531C>T			50	0	0	1341	39	0.28	11	NM_016046	74	0.42	31	B2R9B3|Q5JTH3	Silent	SNP	ENST00000370902.3	37	CCDS7459.1																																																																																					0.582	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049680.1				T	99205531	C	T	99205531	2	4	139	1	0	0	0	0	0	0	0	1	5320	523	19	1		1	EXOSC1	10	99205531	Silent	SNP	C	TCGA-YU-AA61-01A-11D-A435-10	28445304	99205531	36329216	22	10262											
BRSK2	9024	mdanderson.org	37	chr11	1467102	1467102	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctccccggtgcctgcGcggcgggccattgagatggc	3	6	18	14	5	0	1	0	1	0	1	1	2	1	1	4	6	2	1	4	6	0	1	rs571857054		TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr11:1467102G>T	ENST00000528841.1	+	12	1575	c.1191G>T	c.(1189-1191)gcG>gcT	p.A397A	BRSK2_ENST00000526678.1_Silent_p.A397A|BRSK2_ENST00000308219.9_Silent_p.A397A|BRSK2_ENST00000308230.5_Silent_p.A397A|BRSK2_ENST00000382179.1_Silent_p.A443A|BRSK2_ENST00000528710.1_Silent_p.A337A|BRSK2_ENST00000531197.1_Silent_p.A397A|BRSK2_ENST00000544817.1_Silent_p.A92A			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	397					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGGTGCCTGCGCGGCGGGCCA	0.721																																					p.A443A													.	.			0			c.G1329T												28	35	33					11																	1467102		2140	4231	6371	SO:0001819	synonymous_variant	9024	exon12			GCCTGCGCGGCGG	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1191G>T	11.37:g.1467102G>T			51	0	0		43	0.07	3	NM_001256630	3	0	0	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	CCDS58107.1																																																																																					0.721	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000393033.1		NM_003957		T	1467102	G	T	1467102	2	4	139	1	0	0	0	0	0	0	0	1	1526	1074	38	1		1	BRSK2	11	1467102	Silent	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		1467102	133539414	23	10263											
HARBI1	283254	mdanderson.org	37	chr11	46637619	46637619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgagtaggcctagaaaGattcgcccccaagagctcca	11	7	10	13	2	0	4	0	1	0	3	3	4	1	4	4	1	1	3	4	1	4	3			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr11:46637619G>T	ENST00000326737.3	-	2	416	c.169C>A	c.(169-171)Ctt>Att	p.L57I	ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000434074.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	57						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GGCCTAGAAAGATTCGCCCCC	0.488																																					p.L57I													.	.			0			c.C169A												57	58	58					11																	46637619		2201	4299	6500	SO:0001583	missense	283254	exon2			TAGAAAGATTCGC	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.169C>A	11.37:g.46637619G>T	ENSP00000317743:p.Leu57Ile		53	0	0		41	0.07	3	NM_173811	7	0	0	D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682080	0.29872	.	.	ENSG00000180423	ENST00000326737;ENST00000529192	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	L	0.48260	1.515	0.80722	D	1	P	0.46327	0.876	B	0.40702	0.338	T	0.50197	-0.8856	9	0.21540	T	0.41	-14.9709	19.1143	0.93331	0.0:0.0:1.0:0.0	.	57	Q96MB7	HARB1_HUMAN	I	57	.	ENSP00000317743:L57I	L	-	1	0	HARBI1	46594195	1.000000	0.71417	0.989000	0.46669	0.116000	0.19942	7.210000	0.77924	2.534000	0.85438	0.655000	0.94253	CTT			0.488	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390291.1		NM_173811		T	46637619	G	T	46637619	3	4	139	1	0	0	0	0	1	0	0	0	6973	942	33	3	888	3	HARBI1	11	46637619	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	45170517	46637619	88368897	24	10264											
CKAP5	9793	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr11	46819368	46819368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaccttaagtagtgcaGcacaaaagggctttagcaag	13	10	10	8	0	1	0	0	0	1	0	1	0	1	0	1	1	4	6	1	1	7	5			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr11:46819368G>T	ENST00000529230.1	-	11	1371	c.1325C>A	c.(1324-1326)gCt>gAt	p.A442D	CKAP5_ENST00000415402.1_Missense_Mutation_p.A442D|CKAP5_ENST00000312055.5_Missense_Mutation_p.A442D|CKAP5_ENST00000532321.1_5'Flank|CKAP5_ENST00000354558.3_Missense_Mutation_p.A442D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	442					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AAGTAGTGCAGCACAAAAGGG	0.418																																					p.A442D	Ovarian(4;85 273 2202 4844 13323)												.	.			0			c.C1325A												134	134	134					11																	46819368		2201	4299	6500	SO:0001583	missense	9793	exon11			AGTGCAGCACAAA		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1325C>A	11.37:g.46819368G>T	ENSP00000432768:p.Ala442Asp		151	0	0		114	0.06	7	NM_001008938	31	0.1	3	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672314	0.88348	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.969;0.997;0.996	P;D;D	0.67231	0.698;0.931;0.95	T	0.60520	-0.7247	10	0.13470	T	0.59	-9.6382	19.4344	0.94785	0.0:0.0:1.0:0.0	.	442;442;442	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	D	442	ENSP00000432768:A442D;ENSP00000395302:A442D;ENSP00000310227:A442D;ENSP00000346566:A442D	ENSP00000310227:A442D	A	-	2	0	CKAP5	46775944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.694000	0.68272	2.600000	0.87896	0.650000	0.86243	GCT			0.418	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390679.1		NM_014756		T	46819368	G	T	46819368	3	4	139	1	0	0	0	0	1	0	0	0	3447	971	34	2	4909	2	CKAP5	11	46819368	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	181749	46819368	88187148	25	10265											
PGR	5241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	100933354	100933354	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatcaactgtatgtctTgacctggtgaaaaagtgaat	13	12	11	5	0	2	3	1	3	1	0	2	4	2	4	1	2	1	1	1	2	6	2			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr11:100933354T>A	ENST00000325455.5	-	4	3489	c.2036A>T	c.(2035-2037)cAa>cTa	p.Q679L	PGR_ENST00000534013.1_Missense_Mutation_p.Q85L|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	679					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)	CTGTATGTCTTGACCTGGTGA	0.473																																					p.Q679L	Pancreas(124;2271 2354 21954 22882)												.	.			0			c.A2036T												229	205	213					11																	100933354		2203	4300	6503	SO:0001583	missense	5241	exon4			ATGTCTTGACCTG	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.2036A>T	11.37:g.100933354T>A	ENSP00000325120:p.Gln679Leu		123	0	0		102	0.12	12	NM_000926	0		0	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100419	0.37048	.	.	ENSG00000082175	ENST00000325455;ENST00000534013	T;T	0.32988	1.43;1.43	5.6	4.45	0.53987	Nuclear hormone receptor, ligand-binding (1);	0.428918	0.26532	N	0.023849	T	0.32793	0.0841	M	0.72576	2.205	0.80722	D	1	P;B	0.45531	0.86;0.239	B;B	0.40009	0.316;0.07	T	0.08868	-1.0701	10	0.27082	T	0.32	.	12.7782	0.57461	0.0:0.0:0.1371:0.8629	.	679;60	P06401;A7LQ08	PRGR_HUMAN;.	L	679;85	ENSP00000325120:Q679L;ENSP00000436561:Q85L	ENSP00000325120:Q679L	Q	-	2	0	PGR	100438564	1.000000	0.71417	0.928000	0.36995	0.110000	0.19582	3.587000	0.53957	0.923000	0.37045	-0.313000	0.08912	CAA			0.473	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394934.1				A	100933354	T	A	100933354	3	1	139	1	0	0	0	0	1	0	0	0	11822	1812	63	5	785	5	PGR	11	100933354	Missense_Mutation	SNP	T	TCGA-YU-AA61-01A-11D-A435-10	54113986	100933354	34073162	26	10266											
ACCN2	41	mdanderson.org	37	chr12	50452708	50452708	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctgtgcttcctgggctcCctggctgtgctgctgtgtgt	0	14	14	13	0	0	0	0	0	0	0	2	0	2	0	3	2	3	5	3	2	0	1	rs653576	byFrequency	TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr12:50452708C>A	ENST00000447966.2	+	2	388	c.159C>A	c.(157-159)tcC>tcA	p.S53S	ASIC1_ENST00000228468.4_Silent_p.S53S	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	53					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TCCTGGGCTCCCTGGCTGTGC	0.622																																					p.S53S													.	.			0			c.C159A												139	110	120					12																	50452708		2203	4300	6503	SO:0001819	synonymous_variant	41	exon2			GGGCTCCCTGGCT	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.159C>A	12.37:g.50452708C>A			48	0	0		62	0.03	2	NM_020039	4	0	0	A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	CCDS44876.1																																																																																					0.622	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406004.2		NM_020039		A	50452708	C	A	50452708	2	1	139	1	0	0	0	0	0	0	0	1	129	610	22	3		3	ACCN2	12	50452708	Silent	SNP	C	TCGA-YU-AA61-01A-11D-A435-10		50452708	83399187	27	10267											
CALCOCO1	57658	hgsc.bcm.edu	37	chr12	54115831	54115831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgttccatcagctccGtgtgctcctgcctggcagtt	4	14	10	13	1	1	0	1	0	0	0	4	0	4	0	4	1	4	6	4	1	1	3	rs146731373		TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr12:54115831G>T	ENST00000550804.1	-	5	647	c.587C>A	c.(586-588)aCg>aAg	p.T196K	CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.T196K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.T163K|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.T196K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	196					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)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.T196M(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CATCAGCTCCGTGTGCTCCTG	0.607																																					p.T196K													CALCOCO1,NS,carcinoma,0,1	CALCOCO1	0	1	1	Substitution - Missense(1)	endometrium(1)	c.C587A												79	65	69					12																	54115831		2203	4300	6503	SO:0001583	missense	57658	exon5			AGCTCCGTGTGCT	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.587C>A	12.37:g.54115831G>T	ENSP00000449960:p.Thr196Lys		43	0	0		45	0.04	2	NM_020898	64	0	0	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	G	1.968	-0.437163	0.04636	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.72	2.76	0.32466	.	0.587157	0.14269	N	0.330302	T	0.63651	0.2529	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.28470	0.213;0.028;0.056;0.056;0.028;0.07	B;B;B;B;B;B	0.36092	0.217;0.056;0.087;0.087;0.056;0.142	T	0.52624	-0.8551	10	0.06757	T	0.87	-3.3206	7.8395	0.29389	0.0903:0.0:0.7522:0.1576	.	189;163;196;196;163;196	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	K	163;196;134;196;196;189;73	ENSP00000397189:T163K;ENSP00000262059:T196K;ENSP00000447647:T196K;ENSP00000449960:T196K	ENSP00000262059:T196K	T	-	2	0	CALCOCO1	52402098	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	0.549000	0.23329	1.124000	0.41980	0.462000	0.41574	ACG			0.607	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000407233.2		NM_020898		T	54115831	G	T	54115831	3	4	139	1	0	0	0	0	1	0	0	0	2579	1145	40	1	1532	1	CALCOCO1	12	54115831	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	3663123	54115831	79736064	28	10268											
MMP17	4326	mdanderson.org	37	chr12	132326266	132326266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacactccatcatgcggccGtactaccagggcccggtggg	7	6	13	15	3	1	0	1	0	0	0	2	0	2	0	4	4	3	2	4	4	2	2	rs141989989	byFrequency	TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr12:132326266G>A	ENST00000360564.1	+	5	906	c.804G>A	c.(802-804)ccG>ccA	p.P268P	MMP17_ENST00000535291.1_Silent_p.P184P|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	268					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)	TCATGCGGCCGTACTACCAGG	0.642													g|||	2	0.000399361	0	0	5008	,	,		17251	0		0.002	False		,,,				2504	0				p.P268P													.	.			0			c.G804A							A		1,4405	2.1+/-5.4	0,1,2202	81	68	72		804	-8.3	0.1	12	dbSNP_134	72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MMP17	NM_016155.4		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		268/604	132326266	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4326	exon5			GCGGCCGTACTAC	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.804G>A	12.37:g.132326266G>A			55	0	0		40	0.08	3	NM_016155	3	0	0	Q14850	Silent	SNP	ENST00000360564.1	37	CCDS31927.1																																																																																			0.001		0.642	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397757.1		NM_016155		A	132326266	G	A	132326266	2	1	139	1	0	0	0	0	0	0	0	1	9672	1132	40	1		1	MMP17	12	132326266	Silent	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	78210435	132326266	1525629	29	10269											
ULK1	8408	mdanderson.org	37	chr12	132403798	132403798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcctgcgcttcacgctGctgttcgtgcagcacgtcct	3	11	12	15	5	1	0	1	0	0	0	3	0	2	0	2	1	4	6	2	1	0	2			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr12:132403798G>A	ENST00000321867.4	+	24	2904	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	ULK1_ENST00000540647.1_Silent_p.L96L	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	851					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCTTCACGCTGCTGTTCGTGC	0.682																																					p.L851L													.	.			0			c.G2553A												29	29	29					12																	132403798		2195	4290	6485	SO:0001819	synonymous_variant	8408	exon24			CACGCTGCTGTTC	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2553G>A	12.37:g.132403798G>A			24	0	0		14	0.21	3	NM_003565	82	0	0	Q9UQ28	Silent	SNP	ENST00000321867.4	37	CCDS9274.1																																																																																					0.682	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397769.3				A	132403798	G	A	132403798	2	1	139	1	0	0	0	0	0	0	0	1	16999	1306	46	2		2	ULK1	12	132403798	Silent	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	77532	132403798	1448097	30	10270											
LMO7	4008	mdanderson.org	37	chr13	76391409	76391409	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaagatcagaaatggCaggatgtgagtattttgggg	15	9	14	3	0	1	4	1	1	0	3	1	5	1	5	0	4	1	2	0	4	5	3			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr13:76391409C>T	ENST00000321797.8	+	10	2081	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	LMO7_ENST00000377534.3_Nonsense_Mutation_p.Q739*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.Q304*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.Q739*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.Q454*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.Q405*			Q8WWI1	LMO7_HUMAN	LIM domain 7	739					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCAGAAATGGCAGGATGTGAG	0.393																																					p.Q454X													.	.			0			c.C1360T												111	105	107					13																	76391409		2203	4300	6503	SO:0001587	stop_gained	4008	exon9			AAATGGCAGGATG	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1360C>T	13.37:g.76391409C>T	ENSP00000317802:p.Gln454*		18	0	0		16	0.19	3	NM_015842	16	0	0	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	ENST00000321797.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.433160|8.433160	0.98808|0.98808	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261;ENST00000497947;ENST00000489941;ENST00000525373	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.108661	.|0.64402	.|D	.|0.000005	T|.	0.81673|.	0.4872|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83396|.	0.0020|.	3|.	.|0.72032	.|D	.|0.01	-13.9689|-13.9689	19.4824|19.4824	0.95016|0.95016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	362|405;739;739;353;454;304;454;120;120;110	.|.	.|ENSP00000317802:Q454X	A|Q	+|+	2|1	0|0	LMO7|LMO7	75289410|75289410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.238000|7.238000	0.78173|0.78173	2.611000|2.611000	0.88343|0.88343	0.561000|0.561000	0.74099|0.74099	GCA|CAG			0.393	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000045301.3		NM_005358		T	76391409	C	T	76391409	4	4	139	1	0	0	0	0	0	1	0	0	8870	711	25	2	2265	2	LMO7	13	76391409	Nonsense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10		76391409	38778469	31	10271											
C14orf153	84334	mdanderson.org	37	chr14	104056568	104056568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttcatgggaaaagtggCcctggaaaggatttggaaca	12	10	12	7	0	2	0	1	0	1	0	2	4	2	4	1	5	1	0	1	5	4	3	rs529483936		TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr14:104056568C>T	ENST00000409074.2	+	5	567	c.566C>T	c.(565-567)gCc>gTc	p.A189V	APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000247618.4_Missense_Mutation_p.A176V|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	189					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)											GGAAAAGTGGCCCTGGAAAGG	0.498													C|||	1	0.000199681	0	0	5008	,	,		19344	0		0	False		,,,				2504	0.001				p.A189V													.	.			0			c.C566T												165	167	167					14																	104056568		2203	4300	6503	SO:0001583	missense	84334	exon5			AAGTGGCCCTGGA	BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"apoptogenic protein 1"		"chromosome 14 open reading frame 153", "apoptogenic 1"	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.566C>T	14.37:g.104056568C>T	ENSP00000386485:p.Ala189Val		50	0	0		37	0.08	3	NM_032374	113	0	0	Q53G28	Missense_Mutation	SNP	ENST00000409074.2	37	CCDS9983.2	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512088	0.27036	.	.	ENSG00000256053;ENSG00000256053;ENSG00000256500	ENST00000409074;ENST00000440963;ENST00000247618	T;T;T	0.45276	0.9;0.9;0.9	5.66	2.85	0.33270	.	0.215910	0.37715	N	0.001961	T	0.27832	0.0685	L	0.31065	0.9	0.23254	N	0.998038	B	0.19445	0.036	B	0.15870	0.014	T	0.15407	-1.0438	10	0.36615	T	0.2	.	8.2787	0.31887	0.0:0.7491:0.0:0.2509	.	189	Q96IL0	APOP1_HUMAN	V	189;101;176	ENSP00000386485:A189V;ENSP00000388067:A101V;ENSP00000247618:A176V	ENSP00000247618:A176V	A	+	2	0	C14orf153;RP11-73M18.2	103126321	0.985000	0.35326	0.518000	0.27811	0.203000	0.24098	1.723000	0.38053	0.321000	0.23259	-0.136000	0.14681	GCC			0.498	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000333060.2		NM_032374		T	104056568	C	T	104056568	3	4	139	1	0	0	0	0	1	0	0	0	1755	739	26	2	584	2	C14orf153	14	104056568	Missense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10		104056568	3292972	32	10272											
PACS2	23241	mdanderson.org	37	chr14	105859025	105859025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcacagcctgcggacagGaagagggacgccgagaagaa	14	1	16	10	3	0	3	0	0	0	3	0	7	0	6	2	3	3	2	2	3	3	0			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr14:105859025G>T	ENST00000325438.8	+	22	2784	c.2280G>T	c.(2278-2280)agG>agT	p.R760S	PACS2_ENST00000458164.2_Missense_Mutation_p.R775S|PACS2_ENST00000547217.1_Missense_Mutation_p.R730S|PACS2_ENST00000447393.1_Missense_Mutation_p.R764S|PACS2_ENST00000430725.2_Missense_Mutation_p.R685S|PACS2_ENST00000551743.1_Missense_Mutation_p.R274S|PACS2_ENST00000551801.1_Intron			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	760					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CTGCGGACAGGAAGAGGGACG	0.642																																					p.R775S													.	.			0			c.G2325T												85	73	77					14																	105859025		2195	4299	6494	SO:0001583	missense	23241	exon23			GGACAGGAAGAGG	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2280G>T	14.37:g.105859025G>T	ENSP00000321834:p.Arg760Ser		35	0	0		40	0.08	3	NM_001100913	57	0	0	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182282	0.38511	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	4.0	2.06	0.26882	.	0.169367	0.51477	D	0.000100	T	0.34803	0.0910	L	0.47190	1.495	0.49299	D	0.999773	B;B;P;P	0.40660	0.343;0.294;0.629;0.726	B;B;B;B	0.42593	0.392;0.381;0.174;0.313	T	0.05209	-1.0899	10	0.29301	T	0.29	-15.642	8.2501	0.31712	0.2885:0.0:0.7115:0.0	.	764;775;760;761	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	S	685;760;775;764;730;274	ENSP00000393524:R685S;ENSP00000321834:R760S;ENSP00000399732:R775S;ENSP00000393559:R764S;ENSP00000449525:R730S;ENSP00000449254:R274S	ENSP00000321834:R760S	R	+	3	2	PACS2	104930070	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	1.571000	0.36450	0.787000	0.33731	0.462000	0.41574	AGG			0.642	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000409209.1		XM_377355		T	105859025	G	T	105859025	3	4	139	1	0	0	0	0	1	0	0	0	11390	1165	41	3	2378	3	PACS2	14	105859025	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	1802457	105859025	1490515	33	10273											
LTK	4058	mdanderson.org	37	chr15	41800323	41800323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggcacaggcattcaGccagctggagctctgcctgc	6	9	12	14	0	3	0	1	0	2	0	3	1	3	1	2	3	5	4	2	3	0	2			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr15:41800323G>T	ENST00000263800.6	-	9	1289	c.1193C>A	c.(1192-1194)gCt>gAt	p.A398D	LTK_ENST00000453182.2_Missense_Mutation_p.A337D|LTK_ENST00000355166.5_Missense_Mutation_p.A337D|LTK_ENST00000561619.1_Missense_Mutation_p.A80D	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	398					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAGGCATTCAGCCAGCTGGAG	0.572										TSP Lung(18;0.14)																											p.A398D													.	.			0			c.C1193A												125	104	111					15																	41800323		2203	4300	6503	SO:0001583	missense	4058	exon9			CATTCAGCCAGCT	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1193C>A	15.37:g.41800323G>T	ENSP00000263800:p.Ala398Asp		32	0	0		46	0.07	3	NM_002344	12	0	0	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190903	0.58017	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.76968	-1.06;-0.83;-1.02	4.93	3.06	0.35304	.	0.482456	0.15414	U	0.263599	T	0.77651	0.4162	L	0.44542	1.39	0.09310	N	1	D;B;P;B	0.67145	0.996;0.437;0.93;0.286	P;B;P;B	0.53649	0.731;0.143;0.721;0.16	T	0.67624	-0.5623	10	0.72032	D	0.01	.	10.2367	0.43288	0.162:0.0:0.838:0.0	.	337;337;337;398	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	D	398;337;398;337	ENSP00000347293:A337D;ENSP00000263800:A398D;ENSP00000392196:A337D	ENSP00000263800:A398D	A	-	2	0	LTK	39587615	0.442000	0.25633	0.005000	0.12908	0.955000	0.61496	2.973000	0.49264	0.675000	0.31264	0.561000	0.74099	GCT			0.572	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252690.2				T	41800323	G	T	41800323	3	4	139	1	0	0	0	0	1	0	0	0	9096	971	34	2	1449	2	LTK	15	41800323	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		41800323	60731069	34	10274											
SCAPER	49855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	76668615	76668615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggagctggccatgtgcCggaatgcaagggacaagccc	10	4	16	11	1	0	0	0	0	0	0	0	3	0	3	3	4	4	3	3	4	3	0			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr15:76668615C>A	ENST00000563290.1	-	29	3838	c.3743G>T	c.(3742-3744)cGg>cTg	p.R1248L	SCAPER_ENST00000324767.7_Missense_Mutation_p.R1248L|SCAPER_ENST00000538941.2_Missense_Mutation_p.R1002L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1248						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGCCATGTGCCGGAATGCAAG	0.567																																					p.R1248L													.	.			0			c.G3743T																																									SO:0001583	missense	49855	exon28			ATGTGCCGGAATG	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3743G>T	15.37:g.76668615C>A	ENSP00000454973:p.Arg1248Leu		70	0	0		68	0.1	7	NM_020843	23	0.13	3	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399685	0.96030	.	.	ENSG00000140386	ENST00000324767;ENST00000538941	T;T	0.28895	1.64;1.59	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	M	0.67953	2.075	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.46952	-0.9154	10	0.36615	T	0.2	.	20.1531	0.98091	0.0:1.0:0.0:0.0	.	1002	F5H7X8	.	L	1248;1002	ENSP00000326924:R1248L;ENSP00000442190:R1002L	ENSP00000326924:R1248L	R	-	2	0	SCAPER	74455670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.429000	0.80309	2.767000	0.95098	0.655000	0.94253	CGG			0.567	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419698.1		NM_020843		A	76668615	C	A	76668615	3	1	139	1	0	0	0	0	1	0	0	0	13901	652	23	1	475	1	SCAPER	15	76668615	Missense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10	34868292	76668615	25862777	35	10275											
NTHL1	9351	mdanderson.org	37	chr16	2089944	2089944	+	IGR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagagaccctgggcggccGggcagagggcttggttgagg	7	6	19	9	2	1	3	1	1	0	2	1	4	1	3	2	6	0	3	2	6	0	2	rs367629024		TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr16:2089944G>T	ENST00000424542.2	+	0	2194				NTHL1_ENST00000562951.1_5'UTR|NTHL1_ENST00000219066.1_Missense_Mutation_p.P307Q	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2						negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						CTGGGCGGCCGGGCAGAGGGC	0.652																																					p.P307Q	Ovarian(69;105 1552 17724 23473)												.	.			0			c.C920A												30	35	33					16																	2089944		2198	4297	6495	SO:0001628	intergenic_variant	4913	exon6			GCGGCCGGGCAGA	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956		16.37:g.2089944G>T			15	0	0		15	0.13	2	NM_002528	28	0	0	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	g	13.83	2.354305	0.41700	.	.	ENSG00000065057	ENST00000219066	D	0.92595	-3.07	3.92	3.92	0.45320	DNA glycosylase (1);Endonuclease III-like, iron-sulphur cluster loop motif (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);	0.109015	0.64402	D	0.000005	D	0.95843	0.8647	M	0.86953	2.85	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68621	0.959;0.959	D	0.95943	0.8948	10	0.54805	T	0.06	-16.9426	13.2413	0.59997	0.0:0.0:1.0:0.0	.	307;307	E5KTI5;P78549	.;NTHL1_HUMAN	Q	307	ENSP00000219066:P307Q	ENSP00000219066:P307Q	P	-	2	0	NTHL1	2029945	1.000000	0.71417	0.839000	0.33178	0.105000	0.19272	6.473000	0.73572	2.029000	0.59856	0.401000	0.26515	CCG			0.652	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434448.1				T	2089944	G	T	2089944	1	4	139	0	1	0	0	0	0	0	0	0	10715	1116	39	1		1	NTHL1	16	2089944	IGR	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		2089944	88264809	36	10276											
MYH11	4629	mdanderson.org	37	chr16	15841974	15841974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgcgaatgccttccagcaCcccattgcaccgcagctgct	8	8	9	16	2	0	0	0	0	0	0	1	2	1	0	5	0	6	5	5	0	1	2			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr16:15841974C>A	ENST00000300036.5	-	17	2219	c.2110G>T	c.(2110-2112)Gtg>Ttg	p.V704L	MYH11_ENST00000396324.3_Missense_Mutation_p.V711L|MYH11_ENST00000452625.2_Missense_Mutation_p.V711L|MYH11_ENST00000576790.2_Missense_Mutation_p.V704L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	704	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTTCCAGCACCCCATTGCAC	0.627			T	CBFB	AML																																p.V711L				Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	MYH11_ENST00000396324,NS,carcinoma,+1,2	MYH11_ENST00000396324	1	2	0			c.G2131T												68	57	61					16																	15841974		2197	4300	6497	SO:0001583	missense	4629	exon18			CCAGCACCCCATT	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2110G>T	16.37:g.15841974C>A	ENSP00000300036:p.Val704Leu		48	0	0		45	0.07	3	NM_001040114	6	0	0	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233205	0.79688	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	T	0.68504	0.3008	L	0.58810	1.83	0.80722	D	1	P;B;B;B;B	0.42961	0.795;0.398;0.102;0.398;0.102	B;B;B;B;B	0.38616	0.277;0.277;0.277;0.277;0.277	T	0.75326	-0.3357	10	0.87932	D	0	.	17.1766	0.86843	0.0:1.0:0.0:0.0	.	711;704;711;704;711	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	L	704;704;711;711;711	ENSP00000300036:V704L;ENSP00000345136:V704L;ENSP00000379616:V711L;ENSP00000407821:V711L	ENSP00000300036:V704L	V	-	1	0	MYH11	15749475	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	7.813000	0.86123	2.285000	0.76669	0.561000	0.74099	GTG			0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252192.2		NM_001040113		A	15841974	C	A	15841974	3	1	139	1	0	0	0	0	1	0	0	0	10047	507	18	3	3943	3	MYH11	16	15841974	Missense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10	13752030	15841974	74512779	37	10277											
QPRT	23475	mdanderson.org	37	chr16	29706335	29706335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctgccgccgctgcaGtggaggccgccaggggggcc	4	4	18	15	3	0	0	0	0	0	0	0	1	0	1	6	5	3	3	6	5	0	0			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr16:29706335G>T	ENST00000395384.4	+	2	525	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L	QPRT_ENST00000219771.7_Intron|QPRT_ENST00000562473.1_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	122					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)	CGCCGCTGCAGTGGAGGCCGC	0.721																																					p.V122L													.	.			0			c.G364T												11	17	15					16																	29706335		2145	4225	6370	SO:0001583	missense	23475	exon2			GCTGCAGTGGAGG	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.364G>T	16.37:g.29706335G>T	ENSP00000378782:p.Val122Leu		23	0	0		19	0.11	2	NM_014298	137	0	0	Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	ENST00000395384.4	37	CCDS10651.1	.	.	.	.	.	.	.	.	.	.	.	2.315	-0.356915	0.05138	.	.	ENSG00000103485	ENST00000449759;ENST00000395384	T	0.34667	1.35	4.51	4.51	0.55191	Quinolinate phosphoribosyl transferase, C-terminal (2);Quinolinate phosphoribosyl transferase, N-terminal (1);	0.493203	0.19428	N	0.114519	T	0.38401	0.1039	M	0.70903	2.155	0.09310	N	0.999992	B	0.33919	0.432	B	0.38562	0.276	T	0.23762	-1.0179	10	0.17832	T	0.49	-17.583	10.3831	0.44123	0.0:0.0:0.8041:0.1958	.	122	Q15274	NADC_HUMAN	L	122	ENSP00000378782:V122L	ENSP00000378782:V122L	V	+	1	0	QPRT	29613836	0.224000	0.23674	0.030000	0.17652	0.004000	0.04260	1.387000	0.34430	2.222000	0.72286	0.546000	0.68486	GTG			0.721	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215011.2		NM_014298		T	29706335	G	T	29706335	3	4	139	1	0	0	0	0	1	0	0	0	12899	1029	36	3	370	3	QPRT	16	29706335	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	13864361	29706335	60648418	38	10278											
RPGRIP1L	23322	hgsc.bcm.edu	37	chr16	53682980	53682980	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccatgggaactcttaatcGgaaccagtattccactgtgc	11	11	8	11	1	1	0	0	0	1	0	4	2	3	2	3	2	3	1	3	2	4	3			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr16:53682980G>T	ENST00000379925.3	-	16	2250	c.2200C>A	c.(2200-2202)Cga>Aga	p.R734R	RPGRIP1L_ENST00000564374.1_Silent_p.R734R|RPGRIP1L_ENST00000262135.4_Silent_p.R734R|RPGRIP1L_ENST00000563746.1_Silent_p.R734R	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	734					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ACTCTTAATCGGAACCAGTAT	0.378																																					p.R734R													.	.			0			c.C2200A												118	111	113					16																	53682980		2198	4300	6498	SO:0001819	synonymous_variant	23322	exon16			TTAATCGGAACCA		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2200C>A	16.37:g.53682980G>T			114	0	0		88	0.05	4	NM_001127897	2	0	0	A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	CCDS32447.1																																																																																					0.378	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000422187.1		NM_015272		T	53682980	G	T	53682980	2	4	139	1	0	0	0	0	0	0	0	1	13573	1124	39	1		1	RPGRIP1L	16	53682980	Silent	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	23976645	53682980	36671773	39	10279											
C17orf57	124989	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr17	45438806	45438806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagtttcaactgatgacGtgtttgctgttttggatagc	7	16	12	6	2	1	2	1	2	0	0	2	4	1	3	0	1	3	4	0	1	2	5	rs377500863	byFrequency	TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr17:45438806G>A	ENST00000331493.2	+	10	1135	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	242						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AACTGATGACGTGTTTGCTGT	0.363													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		17133	0		0	False		,,,				2504	0				p.V242M													.	.			0			c.G724A							G	,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	226	218	221		,724	-1.2	0	17		221	0,8600		0,0,4300	no	intron,missense	C17orf57	NM_001195192.1,NM_152347.4	,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,possibly-damaging	,242/974	45438806	1,13005	2203	4300	6503	SO:0001583	missense	124989	exon10			GATGACGTGTTTG	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.724G>A	17.37:g.45438806G>A	ENSP00000332111:p.Val242Met		142	0	0		151	0.05	8	NM_152347	0		0	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	9.659	1.143547	0.21205	2.27E-4	0.0	ENSG00000178852	ENST00000331493;ENST00000344176	T	0.41065	1.01	3.78	-1.17	0.09648	EF-hand-like domain (1);	1.143610	0.06887	N	0.803564	T	0.43787	0.1263	L	0.58101	1.795	0.09310	N	0.999999	D;P	0.54964	0.969;0.755	P;B	0.50231	0.635;0.323	T	0.34179	-0.9839	10	0.87932	D	0	-13.7074	2.7597	0.05303	0.1836:0.1316:0.5331:0.1517	.	194;242	Q8N7U2;Q8IY85	.;CQ057_HUMAN	M	242;194	ENSP00000332111:V242M	ENSP00000332111:V242M	V	+	1	0	C17orf57	42793805	0.257000	0.24022	0.003000	0.11579	0.002000	0.02628	-0.035000	0.12205	-0.608000	0.05731	-1.936000	0.00505	GTG			0.363	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000380147.4		NM_152347		A	45438806	G	A	45438806	3	1	139	1	0	0	0	0	1	0	0	0	1867	1145	40	1	750	1	C17orf57	17	45438806	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		45438806	35756404	40	10280											
CLTC	1213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	57721790	57721790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaatccaattcgaagaccaAtttcagcagacagcgccatc	14	8	7	12	2	1	2	1	0	0	2	4	3	2	2	3	0	2	2	3	0	4	3			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr17:57721790A>G	ENST00000269122.3	+	2	470	c.196A>G	c.(196-198)Att>Gtt	p.I66V	CLTC_ENST00000393043.1_Missense_Mutation_p.I66V|CLTC_ENST00000579456.1_Missense_Mutation_p.I66V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	66	Globular terminal domain.|WD40-like repeat 1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCGAAGACCAATTTCAGCAGA	0.398			T	"ALK, TFE3"	"ALCL, renal "																																p.I66V				Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	.	.			0			c.A196G												88	80	83					17																	57721790		2203	4300	6503	SO:0001583	missense	1213	exon2			AGACCAATTTCAG	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.196A>G	17.37:g.57721790A>G	ENSP00000269122:p.Ile66Val		106	0	0		125	0.26	33	NM_004859	99	0.22	22	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242686	0.58995	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.61859	0.07;0.07	5.03	5.03	0.67393	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.87682	2.9	0.29044	N	0.884891	B;B	0.13145	0.0;0.007	B;B	0.25884	0.002;0.064	T	0.65619	-0.6124	10	0.59425	D	0.04	.	15.0351	0.71738	1.0:0.0:0.0:0.0	.	66;66	Q00610;Q00610-2	CLH1_HUMAN;.	V	66	ENSP00000269122:I66V;ENSP00000376763:I66V	ENSP00000269122:I66V	I	+	1	0	CLTC	55076572	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.283000	0.95860	2.005000	0.58758	0.533000	0.62120	ATT			0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258859.1		NM_004859		G	57721790	A	G	57721790	3	3	139	1	0	0	0	0	1	0	0	0	3568	101	4	4	202	4	CLTC	17	57721790	Missense_Mutation	SNP	A	TCGA-YU-AA61-01A-11D-A435-10	12282984	57721790	23473420	41	10281											
KIAA1632	57724	mdanderson.org	37	chr18	43469833	43469833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttagcagcttctgcttGcaactgcttcacttccttcc	5	16	7	13	0	2	0	1	0	1	0	4	0	4	0	2	1	6	6	2	1	2	7			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr18:43469833G>T	ENST00000282041.5	-	28	4916	c.4882C>A	c.(4882-4884)Caa>Aaa	p.Q1628K	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1628					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						GCTTCTGCTTGCAACTGCTTC	0.368																																					p.Q1628K													.	.			0			c.C4882A												142	132	135					18																	43469833		1888	4124	6012	SO:0001583	missense	57724	exon28			CTGCTTGCAACTG	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.4882C>A	18.37:g.43469833G>T	ENSP00000282041:p.Gln1628Lys		59	0	0		41	0.07	3	NM_020964	8	0	0	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796608	0.70567	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10668	2.85	6.01	6.01	0.97437	.	.	.	.	.	T	0.32882	0.0844	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.00115	-1.2038	9	0.52906	T	0.07	-9.8923	20.5211	0.99222	0.0:0.0:1.0:0.0	.	1628	Q9HCE0	EPG5_HUMAN	K	1628;503	ENSP00000282041:Q1628K	ENSP00000282041:Q1628K	Q	-	1	0	EPG5	41723831	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	9.448000	0.97600	2.861000	0.98227	0.650000	0.86243	CAA			0.368	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445081.1		NM_020964		T	43469833	G	T	43469833	3	4	139	1	0	0	0	0	1	0	0	0	8264	1328	46	2	2925	2	KIAA1632	18	43469833	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		43469833	34607415	42	10282											
FBN3	84467	mdanderson.org	37	chr19	8148193	8148193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacagtggcagcggaaggagCcaaggctgttgatgcactcc	10	6	15	10	1	0	1	0	1	0	0	1	4	1	3	2	4	3	4	2	4	2	1			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr19:8148193C>T	ENST00000600128.1	-	57	7565	c.7151G>A	c.(7150-7152)gGc>gAc	p.G2384D	FBN3_ENST00000270509.2_Missense_Mutation_p.G2384D|FBN3_ENST00000601739.1_Missense_Mutation_p.G2384D			Q75N90	FBN3_HUMAN	fibrillin 3	2384	EGF-like 38; 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						GCGGAAGGAGCCAAGGCTGTT	0.597																																					p.G2384D													.	.			0			c.G7151A												168	120	136					19																	8148193		2203	4300	6503	SO:0001583	missense	84467	exon56			AAGGAGCCAAGGC		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.7151G>A	19.37:g.8148193C>T	ENSP00000470498:p.Gly2384Asp		32	0	0		39	0.08	3	NM_032447	71	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190287	0.78789	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.99557	-6.16	5.13	5.13	0.70059	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99684	0.9881	M	0.89904	3.07	0.80722	D	1	P;D	0.89917	0.833;1.0	P;D	0.97110	0.745;1.0	D	0.97859	1.0279	10	0.52906	T	0.07	.	18.5764	0.91157	0.0:1.0:0.0:0.0	.	2384;490	Q75N90;Q6ZNB8	FBN3_HUMAN;.	D	2384;490	ENSP00000270509:G2384D	ENSP00000270509:G2384D	G	-	2	0	FBN3	8054193	1.000000	0.71417	0.988000	0.46212	0.358000	0.29455	7.295000	0.78780	2.393000	0.81446	0.491000	0.48974	GGC			0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461428.2		NM_032447		T	8148193	C	T	8148193	3	4	139	1	0	0	0	0	1	0	0	0	5717	739	26	2	1310	2	FBN3	19	8148193	Missense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10		8148193	50980790	43	10283											
ZNF799	90576	ucsc.edu	37	chr19	12501560	12501560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcatgtgaattcttTcatgtcgtagaaagcaagtg	10	15	8	8	1	4	2	2	1	3	1	7	2	4	2	0	0	1	2	0	0	4	3			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr19:12501560T>C	ENST00000430385.3	-	4	1852	c.1652A>G	c.(1651-1653)gAa>gGa	p.E551G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E519G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	551					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						GTGAATTCTTTCATGTCGTAG	0.393																																					p.E551G													.	ZNF799	111		0			c.A1652G												93	96	95					19																	12501560		2202	4300	6502	SO:0001583	missense	90576	exon4			ATTCTTTCATGTC	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.1652A>G	19.37:g.12501560T>C	ENSP00000411084:p.Glu551Gly		161	0.0062111801	1		183	0.02	3	NM_001080821	30	0.2	6		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811876	0.32053	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.18657	2.2;2.2	1.53	-0.919	0.10478	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20414	0.0491	M	0.62209	1.925	0.09310	N	1	B	0.17852	0.024	B	0.29353	0.101	T	0.40720	-0.9548	9	0.62326	D	0.03	.	3.0258	0.06090	0.2117:0.1463:0.0:0.642	.	551	Q96GE5	ZN799_HUMAN	G	519;551	ENSP00000415278:E519G;ENSP00000411084:E551G	ENSP00000415278:E519G	E	-	2	0	ZNF799	12362560	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	-1.204000	0.03017	-0.358000	0.08162	0.352000	0.21897	GAA			0.393	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344099.2	rescued with RNA-seq	NM_001080821		C	12501560	T	C	12501560	3	2	139	1	0	0	0	0	1	0	0	0	18189	1783	62	4	283	4	ZNF799	19	12501560	Missense_Mutation	SNP	T	TCGA-YU-AA61-01A-11D-A435-10	4353367	12501560	46627423	44	10284											
SCAF1	58506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	50148669	50148669	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacctgcccaatgataaagGtatggcggcttccggttcct	8	10	12	11	2	0	1	0	1	0	0	2	2	2	2	4	5	1	3	4	5	4	4			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr19:50148669G>A	ENST00000360565.3	+	3	290		c.e3+1			NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.?(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		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)		AATGATAAAGGTATGGCGGCT	0.577																																					.													SCAF1,NS,carcinoma,0,1	SCAF1	0	1	1	Unknown(1)	lung(1)	c.166+1G>A												70	69	69					19																	50148669		2203	4300	6503	SO:0001630	splice_region_variant	58506	exon3			ATAAAGGTATGGC	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.166+1G>A	19.37:g.50148669G>A			125	0	0		163	0.19	31	NM_021228	0		0	Q7Z5V7|Q8WVA1|Q9NR59	Splice_Site	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.510262	0.44660	.	.	ENSG00000126461	ENST00000360565;ENST00000447618	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6149	0.51083	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCAF1	54840481	1.000000	0.71417	0.998000	0.56505	0.652000	0.38707	4.058000	0.57463	2.111000	0.64477	0.305000	0.20034	.			0.577	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465764.1		NM_021228	Intron	A	50148669	G	A	50148669	5	1	139	1	0	0	0	0	0	0	1	0	13891	1275	44	3	173	3	SCAF1	19	50148669	Splice_Site	SNP	G	TCGA-YU-AA61-01A-11D-A435-10	37647109	50148669	8980314	45	10285											
ZNF628	89887	mdanderson.org	37	chr19	55995616	55995616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggggctccccggggctcCagcctcccagatggtgcaag	5	5	15	16	3	0	1	0	0	0	1	3	1	3	1	5	5	2	3	5	5	1	0			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr19:55995616C>T	ENST00000598519.1	+	3	3609	c.3056C>T	c.(3055-3057)cCa>cTa	p.P1019L	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.P1015L|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	1019					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCCGGGGCTCCAGCCTCCCAG	0.701																																					p.P1019L													.	.			0			c.C3056T												5	6	5					19																	55995616		2050	4009	6059	SO:0001583	missense	89887	exon3			GGGCTCCAGCCTC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.3056C>T	19.37:g.55995616C>T	ENSP00000469591:p.Pro1019Leu		38	0	0		34	0.09	3	NM_033113	16	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	9.783	1.175756	0.21704	.	.	ENSG00000197483	ENST00000391718	T	0.08546	3.08	3.48	3.48	0.39840	.	0.126603	0.33515	U	0.004829	T	0.05273	0.0140	N	0.24115	0.695	0.09310	N	0.999999	P	0.39480	0.675	B	0.34242	0.178	T	0.33266	-0.9875	10	0.72032	D	0.01	-9.6118	8.314	0.32088	0.2359:0.7641:0.0:0.0	.	1015	Q5EBL2	ZN628_HUMAN	L	1015	ENSP00000375598:P1015L	ENSP00000375598:P1015L	P	+	2	0	ZNF628	60687428	0.003000	0.15002	0.004000	0.12327	0.102000	0.19082	1.441000	0.35035	1.973000	0.57446	0.478000	0.44815	CCA			0.701	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317934.2		XM_058964		T	55995616	C	T	55995616	3	4	139	1	0	0	0	0	1	0	0	0	18075	594	21	3	3046	3	ZNF628	19	55995616	Missense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10	5846947	55995616	3133367	46	10286											
ZNF341	84905	mdanderson.org	37	chr20	32333094	32333094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaggccccaactcctGccaatcgccaggtatttgtt	8	10	8	15	1	0	0	0	0	0	0	3	0	2	0	6	2	3	3	6	2	3	3	rs373744673		TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr20:32333094G>T	ENST00000375200.1	+	3	693	c.328G>T	c.(328-330)Gcc>Tcc	p.A110S	ZNF341_ENST00000342427.2_Missense_Mutation_p.A110S	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	110					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						CCCAACTCCTGCCAATCGCCA	0.567																																					p.A110S													.	.			0			c.G328T												33	35	35					20																	32333094		2203	4300	6503	SO:0001583	missense	84905	exon3			ACTCCTGCCAATC	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.328G>T	20.37:g.32333094G>T	ENSP00000364346:p.Ala110Ser		51	0	0		40	0.08	3	NM_032819	5	0	0	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37		.	.	.	.	.	.	.	.	.	.	G	10.39	1.337786	0.24253	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.09723	3.18;2.95	5.58	3.62	0.41486	.	0.601770	0.17943	N	0.156795	T	0.03871	0.0109	N	0.04508	-0.205	0.43503	D	0.995758	B;B	0.20368	0.026;0.044	B;B	0.26094	0.03;0.066	T	0.30416	-0.9979	10	0.02654	T	1	-17.1402	5.2611	0.15573	0.2092:0.1625:0.6284:0.0	.	110;110	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	S	110	ENSP00000344308:A110S;ENSP00000364346:A110S	ENSP00000344308:A110S	A	+	1	0	ZNF341	31796755	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.040000	0.30278	0.718000	0.32166	0.563000	0.77884	GCC			0.567	ZNF341-201	KNOWN	basic	protein_coding	protein_coding						T	32333094	G	T	32333094	3	4	139	1	0	0	0	0	1	0	0	0	17880	1319	46	2	338	2	ZNF341	20	32333094	Missense_Mutation	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		32333094	30692426	47	10287											
BAGE2	85319	broad.mit.edu	37	chr21	11058282	11058282	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtacatttctcttcacaGcatttgatagtggctccaaa	10	14	8	9	0	2	1	1	1	1	0	4	1	3	1	1	2	2	3	1	2	3	5			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chr21:11058282G>A	ENST00000470054.1	-	0	365							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)		TCTCTTCACAGCATTTGATAG	0.403																																					p.A53V													.	.			0			c.C158T												112	87	94					21																	11058282		692	1591	2283			85319	exon3			TTCACAGCATTTG	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.11058282G>A			135	0.0148148148	2		185	0.03	6	NM_182482	1	0	0	A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000157417.3		NM_182482		A	11058282	G	A	11058282	1	1	139	0	1	0	0	0	0	0	0	0	1292	971	34	2		2	BAGE2	21	11058282	RNA	SNP	G	TCGA-YU-AA61-01A-11D-A435-10		11058282	37071613	48	10288											
SYTL4	94121	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chrX	99945112	99945112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgttcttcttaaatatCatctcaccctcatccacaaa	11	14	3	13	0	5	0	3	0	3	0	7	0	6	0	2	1	0	1	2	1	4	4			TCGA-YU-AA61-01A-11D-A435-10	TCGA-YU-AA61-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a045392a-1a5d-4642-8bd1-f1671db2fd63	1a30d3c6-2e38-4057-b0a9-4509f5a563a4	g.chrX:99945112C>A	ENST00000372989.1	-	10	1099	c.768G>T	c.(766-768)atG>atT	p.M256I	SYTL4_ENST00000276141.6_Missense_Mutation_p.M256I|SYTL4_ENST00000454200.2_Missense_Mutation_p.M257I|SYTL4_ENST00000263033.5_Missense_Mutation_p.M256I|SYTL4_ENST00000455616.1_Missense_Mutation_p.M256I|SYTL4_ENST00000372981.1_Missense_Mutation_p.M256I	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	256					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)"	TCTTAAATATCATCTCACCCT	0.443																																					p.M256I													.	.			0			c.G768T												95	81	85					X																	99945112		2203	4300	6503	SO:0001583	missense	94121	exon9			AAATATCATCTCA		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.768G>T	X.37:g.99945112C>A	ENSP00000362080:p.Met256Ile		130	0	0		171	0.07	12	NM_001129896	3	0	0	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	c	10.06	1.246605	0.22796	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.63580	2.11;2.11;2.11;2.11;2.11;-0.05	5.7	4.83	0.62350	.	0.464796	0.26293	N	0.025211	T	0.51839	0.1698	L	0.47716	1.5	0.23950	N	0.996375	B;B	0.13145	0.007;0.0	B;B	0.09377	0.004;0.001	T	0.34229	-0.9837	9	.	.	.	-16.0292	10.3346	0.43841	0.0:0.6446:0.2774:0.078	.	256;256	Q96C24-2;Q96C24	.;SYTL4_HUMAN	I	256;256;257;256;256;256	ENSP00000362080:M256I;ENSP00000390252:M256I;ENSP00000403556:M257I;ENSP00000276141:M256I;ENSP00000263033:M256I;ENSP00000362072:M256I	.	M	-	3	0	SYTL4	99831768	0.988000	0.35896	1.000000	0.80357	0.982000	0.71751	0.175000	0.16762	2.396000	0.81511	0.591000	0.81541	ATG			0.443	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000057488.1		NM_080737		A	99945112	C	A	99945112	3	1	139	1	0	0	0	0	1	0	0	0	15508	826	29	3	1287	3	SYTL4	23	99945112	Missense_Mutation	SNP	C	TCGA-YU-AA61-01A-11D-A435-10		99945112	55325448	49	10289											
ATAD3C	219293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	1396296	1396296	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccggccacagaaggaaagCggtaagtgtcccgccccacc	11	3	12	15	3	0	1	0	0	0	1	1	2	1	2	6	3	2	1	6	3	3	1	rs202189170	byFrequency	TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr1:1396296C>T	ENST00000378785.2	+	10	1974	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	327							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGAAGGAAAGCGGTAAGTGTC	0.642													c|||	2	0.000399361	0.0015	0	5008	,	,		15611	0		0	False		,,,				2504	0				p.R327W													.	.			0			c.C979T							C	TRP/ARG	1,1383		0,1,691	109	93	98		979	2.4	1	1		98	1,3181		0,1,1590	yes	missense-near-splice	ATAD3C	NM_001039211.2	101	0,2,2281	TT,TC,CC		0.0314,0.0723,0.0438	probably-damaging	327/412	1396296	2,4564	692	1591	2283	SO:0001630	splice_region_variant	219293	exon10			GGAAAGCGGTAAG	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.980+1C>T	1.37:g.1396296C>T			87	0	0		72	0.15	11	NM_001039211	15	0.07	1	Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	14.77	2.634903	0.47049	7.23E-4	3.14E-4	ENSG00000215915	ENST00000378785	D	0.94723	-3.5	2.37	2.37	0.29283	.	0.000000	0.85682	D	0.000000	D	0.92224	0.7534	L	0.29908	0.895	0.28843	N	0.896484	D	0.69078	0.997	P	0.52343	0.696	D	0.88078	0.2805	10	0.87932	D	0	.	11.6921	0.51521	0.0:1.0:0.0:0.0	.	327	Q5T2N8	ATD3C_HUMAN	W	327	ENSP00000368062:R327W	ENSP00000368062:R327W	R	+	1	2	ATAD3C	1386159	1.000000	0.71417	0.992000	0.48379	0.010000	0.07245	7.417000	0.80156	1.139000	0.42245	0.205000	0.17691	CGG			0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001279.3		NM_001039211	Missense_Mutation	T	1396296	C	T	1396296	5	4	140	1	0	0	0	0	0	0	1	0	1075	782	27	1	1017	1	ATAD3C	1	1396296	Splice_Site	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10		1396296	247854325	1	10290											
MTOR	2475	broad.mit.edu	37	chr1	11264759	11264759	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctcctggcagcgccccagGcctgtgatcccacaggtgac	6	6	11	18	1	0	2	0	2	0	0	2	2	2	2	6	3	1	1	6	3	0	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr1:11264759G>T	ENST00000361445.4	-	26	3879	c.3803C>A	c.(3802-3804)gCc>gAc	p.A1268D		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1268					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGCGCCCCAGGCCTGTGATCC	0.488																																					p.A1268D													.	MTOR	327		0			c.C3803A												34	33	33					1																	11264759		2203	4300	6503	SO:0001630	splice_region_variant	2475	exon26			CCCCAGGCCTGTG	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3802-1C>A	1.37:g.11264759G>T			147	0	0		226	0.04	8	NM_004958	0		0	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Splice_Site	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270403	0.95429	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.11277	2.79	5.92	5.92	0.95590	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	M	0.86097	2.795	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.29305	-1.0016	10	0.87932	D	0	-12.7744	20.3213	0.98679	0.0:0.0:1.0:0.0	.	1268	P42345	MTOR_HUMAN	D	1268	ENSP00000354558:A1268D	ENSP00000354558:A1268D	A	-	2	0	MTOR	11187346	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.373000	0.97168	2.810000	0.96702	0.650000	0.86243	GCC			0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005558.1		NM_004958	Missense_Mutation	T	11264759	G	T	11264759	5	4	140	1	0	0	0	0	0	0	1	0	9970	1217	42	2	3978	2	MTOR	1	11264759	Splice_Site	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	9868463	11264759	237985862	2	10291											
HSPG2	3339	broad.mit.edu	37	chr1	22213941	22213941	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcatcgctgccgtcctcGcagtcctcctgtccgtcgca	4	10	9	18	5	1	0	1	0	0	0	8	0	5	0	5	0	2	4	5	0	0	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr1:22213941G>T	ENST00000374695.3	-	8	1009	c.930C>A	c.(928-930)tgC>tgA	p.C310*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	310	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCCGTCCTCGCAGTCCTCCT	0.697																																					p.C310X													.	HSPG2	311		0			c.C930A												76	83	81					1																	22213941		2203	4300	6503	SO:0001587	stop_gained	3339	exon8			GTCCTCGCAGTCC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.930C>A	1.37:g.22213941G>T	ENSP00000363827:p.Cys310*		59	0	0		104	0.03	3	NM_005529	0		0	Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.00|14.00	2.405558|2.405558	0.42715|0.42715	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000412328;ENST00000374673|ENST00000374695	T|.	0.54279|.	0.58|.	5.09|5.09	2.94|2.94	0.34122|0.34122	.|.	.|0.000000	.|0.43416	.|D	.|0.000568	T|.	0.42944|.	0.1225|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	D|.	0.71674|.	0.998|.	D|.	0.70487|.	0.969|.	T|.	0.53173|.	-0.8476|.	6|.	.|.	.|.	.|.	.|.	7.4055|7.4055	0.26987|0.26987	0.2627:0.0:0.7373:0.0|0.2627:0.0:0.7373:0.0	.|.	233|.	Q5SZI5|.	.|.	E|X	233;137|310	ENSP00000405412:A233E|.	.|.	A|C	-|-	2|3	0|2	HSPG2|HSPG2	22086528|22086528	0.951000|0.951000	0.32395|0.32395	0.898000|0.898000	0.35279|0.35279	0.311000|0.311000	0.27955|0.27955	1.503000|1.503000	0.35715|0.35715	1.154000|1.154000	0.42482|0.42482	0.462000|0.462000	0.41574|0.41574	GCG|TGC			0.697	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007598.1		NM_005529		T	22213941	G	T	22213941	4	4	140	1	0	0	0	0	0	1	0	0	7445	1079	38	1	12605	1	HSPG2	1	22213941	Nonsense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	10949182	22213941	227036680	3	10292											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334301	77334301	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcaggcgtcggc	12	1	14	14	2	0	0	0	0	0	0	1	0	0	0	0	2	10	9	0	2	1	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr1:77334301A>G	ENST00000477717.1	+	2	370	c.135A>G	c.(133-135)caA>caG	p.Q45Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	45	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcaacagcagcagc	0.716																																					p.Q45Q													.	ST6GALNAC5	59		0			c.A135G												11	12	12					1																	77334301		2032	3963	5995	SO:0001819	synonymous_variant	81849	exon2			GCAGCAACAGCAG		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.135A>G	1.37:g.77334301A>G			85	0.0117647059	1		177	0.03	6	NM_030965	0		0	B1AK82	Silent	SNP	ENST00000477717.1	37	CCDS673.1																																																																																					0.716	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000026692.2		NM_030965		G	77334301	A	G	77334301	2	3	140	1	0	0	0	0	0	0	0	1	15250	40	2	4		4	ST6GALNAC5	1	77334301	Silent	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10	55120360	77334301	171916320	4	10293											
OLFML3	56944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	114523051	114523051	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgctggaggtggcagagaAggagcgggaggcactcagaa	12	4	18	7	1	1	2	1	0	0	2	1	6	1	5	0	6	2	3	0	6	2	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr1:114523051A>T	ENST00000320334.4	+	2	286	c.212A>T	c.(211-213)aAg>aTg	p.K71M	OLFML3_ENST00000369551.1_Missense_Mutation_p.K51M|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.K51M	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	71					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	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)		GTGGCAGAGAAGGAGCGGGAG	0.612																																					p.K71M													.	.			0			c.A212T												73	77	76					1																	114523051		2203	4300	6503	SO:0001583	missense	56944	exon2			CAGAGAAGGAGCG	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.212A>T	1.37:g.114523051A>T	ENSP00000322273:p.Lys71Met		130	0	0		159	0.19	30	NM_020190	5	0.2	1	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	CCDS870.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987202	0.74589	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.90324	-2.65;-2.65;-2.65	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.90431	0.7004	L	0.34521	1.04	0.52099	D	0.999948	D;D	0.89917	1.0;0.999	D;P	0.70935	0.971;0.907	D	0.92284	0.5836	10	0.66056	D	0.02	.	14.7677	0.69651	1.0:0.0:0.0:0.0	.	51;71	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	M	51;71;51	ENSP00000358564:K51M;ENSP00000322273:K71M;ENSP00000376977:K51M	ENSP00000322273:K71M	K	+	2	0	OLFML3	114324574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.249000	0.51437	1.968000	0.57251	0.459000	0.35465	AAG			0.612	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033119.1		NM_020190		T	114523051	A	T	114523051	3	4	140	1	0	0	0	0	1	0	0	0	10876	72	3	5	218	5	OLFML3	1	114523051	Missense_Mutation	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10	37188750	114523051	134727570	5	10294											
C1orf66	51093	mdanderson.org	37	chr1	156704005	156704005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcctgaggtggtggccctgGcctcagtgggctgctgctac	3	10	16	12	0	1	1	1	1	0	0	2	1	2	1	3	5	3	3	3	5	1	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr1:156704005G>T	ENST00000368216.4	+	6	1471	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	281						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGTGGCCCTGGCCTCAGTGGG	0.642																																					p.A281S													.	.			0			c.G841T												89	77	81					1																	156704005		2203	4300	6503	SO:0001583	missense	51093	exon6			GCCCTGGCCTCAG	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.841G>T	1.37:g.156704005G>T	ENSP00000357199:p.Ala281Ser		70	0	0		89	0.04	4	NM_015997	22	0	0	D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116917	0.77323	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	T;T	0.43294	0.95;0.95	5.28	5.28	0.74379	.	0.054787	0.64402	D	0.000001	T	0.38639	0.1048	L	0.53249	1.67	0.80722	D	1	P	0.51791	0.948	P	0.53102	0.718	T	0.37033	-0.9723	10	0.62326	D	0.03	-14.5193	9.9413	0.41583	0.0927:0.0:0.9073:0.0	.	281	Q96FB5	RRNAD_HUMAN	S	281;260	ENSP00000357199:A281S;ENSP00000429756:A260S	ENSP00000357199:A281S	A	+	1	0	RRNAD1	154970629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.400000	0.66320	2.494000	0.84150	0.561000	0.74099	GCC			0.642	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098973.1		NM_015997		T	156704005	G	T	156704005	3	4	140	1	0	0	0	0	1	0	0	0	2058	1203	42	2	863	2	C1orf66	1	156704005	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	42180954	156704005	92546616	6	10295											
ZC3H11A	9877	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	203819655	203819655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtagctaaacccaaagTgaacgtgaagccatctgtgg	12	10	10	9	1	1	2	0	2	1	0	1	2	1	2	2	1	4	2	2	1	6	3			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr1:203819655T>C	ENST00000545588.1	+	15	5779	c.1952T>C	c.(1951-1953)gTg>gCg	p.V651A	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.V651A|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.V651A|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.V651A|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.V651A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	651					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)			AAACCCAAAGTGAACGTGAAG	0.423																																					p.V651A													.	.			0			c.T1952C												118	120	119					1																	203819655		2203	4300	6503	SO:0001583	missense	9877	exon18			CCAAAGTGAACGT		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.1952T>C	1.37:g.203819655T>C	ENSP00000438527:p.Val651Ala		142	0	0		192	0.17	32	NM_014827	6	0.5	3	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408891	0.83340	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.62	5.62	0.85841	.	0.060915	0.64402	D	0.000002	T	0.74566	0.3733	M	0.77103	2.36	0.46167	D	0.998904	D	0.89917	1.0	D	0.91635	0.999	T	0.72478	-0.4281	10	0.21014	T	0.42	-18.7661	14.8047	0.69945	0.0:0.0:0.0:1.0	.	651	O75152	ZC11A_HUMAN	A	651;597;651;651;651;651	ENSP00000356183:V651A;ENSP00000356181:V651A;ENSP00000333253:V651A;ENSP00000438527:V651A;ENSP00000356179:V651A	ENSP00000333253:V651A	V	+	2	0	ZC3H11A	202086278	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.612000	0.54142	2.139000	0.66308	0.533000	0.62120	GTG			0.423	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087471.3		NM_014827		C	203819655	T	C	203819655	3	2	140	1	0	0	0	0	1	0	0	0	17583	1696	59	4	2006	4	ZC3H11A	1	203819655	Missense_Mutation	SNP	T	TCGA-ZM-AA05-01A-12D-A435-10	47115650	203819655	45430966	7	10296											
IL1F6	27179	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	113763655	113763655	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtcccgaggaaggaccgtAtgtctccaggtgagtagcca	10	7	13	11	2	1	1	0	1	1	0	3	4	2	3	4	3	1	2	4	3	3	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr2:113763655A>G	ENST00000259211.6	+	2	526	c.115A>G	c.(115-117)Atg>Gtg	p.M39V		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	39					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GAAGGACCGTATGTCTCCAGG	0.517																																					p.M39V													.	.			0			c.A115G												50	54	52					2																	113763655		2054	4204	6258	SO:0001583	missense	27179	exon2			GACCGTATGTCTC	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"Interleukins and interleukin receptors"	15562	protein-coding gene	gene with protein product		605509	"interleukin 1 family, member 6 (epsilon)"	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.115A>G	2.37:g.113763655A>G	ENSP00000259211:p.Met39Val		66	0	0		107	0.05	5	NM_014440	0		0	B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.869185	0.00547	.	.	ENSG00000136694	ENST00000259211	T	0.15487	2.42	4.69	-3.68	0.04463	.	1.380940	0.04319	N	0.350340	T	0.07593	0.0191	N	0.02202	-0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37549	-0.9701	10	0.27082	T	0.32	25.0497	12.2382	0.54528	0.3549:0.0:0.6451:0.0	.	39	Q9UHA7	IL36A_HUMAN	V	39	ENSP00000259211:M39V	ENSP00000259211:M39V	M	+	1	0	IL36A	113480126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.908000	0.04063	-1.335000	0.02241	-1.463000	0.01021	ATG			0.517	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330711.1		NM_014440		G	113763655	A	G	113763655	3	3	140	1	0	0	0	0	1	0	0	0	7669	449	16	4	121	4	IL1F6	2	113763655	Missense_Mutation	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10		113763655	129435718	8	10297											
HOXD9	3235	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	176988212	176988212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgactgggacgggcggctCgtcggagccctcagcttgca	5	6	16	14	6	1	0	1	0	0	0	3	3	1	2	1	4	3	3	1	4	0	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr2:176988212C>T	ENST00000249499.6	+	1	1125	c.716C>T	c.(715-717)tCg>tTg	p.S239L	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	239					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|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)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACGGGCGGCTCGTCGGAGCCC	0.682																																					p.S239L	GBM(47;924 952 7959 9248 12176)												.	.			0			c.C716T												6	7	7					2																	176988212		2100	4137	6237	SO:0001583	missense	3235	exon1			GCGGCTCGTCGGA		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"Homeoboxes / ANTP class : HOXL subclass"	5140	protein-coding gene	gene with protein product		142982	"homeo box D9"	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.716C>T	2.37:g.176988212C>T	ENSP00000249499:p.Ser239Leu		114	0	0		185	0.11	21	NM_014213	0		0	Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164646	0.38217	.	.	ENSG00000128709	ENST00000249499	D	0.94092	-3.35	4.55	3.61	0.41365	.	6.884870	0.00166	N	0.000013	D	0.90140	0.6919	L	0.40543	1.245	0.21325	N	0.99972	B	0.27971	0.196	B	0.19666	0.026	T	0.76740	-0.2848	10	0.24483	T	0.36	.	10.3261	0.43793	0.1484:0.7076:0.144:0.0	.	239	P28356	HXD9_HUMAN	L	239	ENSP00000249499:S239L	ENSP00000249499:S239L	S	+	2	0	HOXD9	176696458	0.997000	0.39634	0.979000	0.43373	0.831000	0.47069	1.252000	0.32874	2.215000	0.71742	0.555000	0.69702	TCG			0.682	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255698.4				T	176988212	C	T	176988212	3	4	140	1	0	0	0	0	1	0	0	0	7341	893	31	1	718	1	HOXD9	2	176988212	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	63224557	176988212	66211161	9	10298											
PRR21	643905	hgsc.bcm.edu	37	chr2	240982009	240982009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatggaggaagggccgtggGtgaagaggcatggacgaagg	11	4	21	5	2	0	2	0	1	0	1	0	6	0	5	1	7	0	2	1	7	3	0	rs202192655		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr2:240982009G>A	ENST00000408934.1	-	1	390	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	131	Pro-rich.							p.P131S(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGGGCCGTGGGTGAAGAGGCA	0.647																																					p.P131S													PRR21,NS,malignant_melanoma,0,2	PRR21	0	2	2	Substitution - Missense(2)	NS(2)	c.C391T												4	3	3					2																	240982009		1301	2740	4041	SO:0001583	missense	643905	exon1			CCGTGGGTGAAGA	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.391C>T	2.37:g.240982009G>A	ENSP00000386166:p.Pro131Ser		8	0.125	1		20	0.25	5	NM_001080835	0		0		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	-	0.018	-1.469388	0.01044	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13307	2.6;2.6	1.73	-3.03	0.05429	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.61940	0.896	T	0.12993	-1.0526	9	0.10111	T	0.7	.	7.6745	0.28478	0.3709:0.0:0.6291:0.0	.	131	Q8WXC7	PRR21_HUMAN	S	131	ENSP00000386166:P131S;ENSP00000418240:P131S	ENSP00000386166:P131S	P	-	1	0	PRR21	240630682	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.053000	0.03500	-0.874000	0.04027	-0.481000	0.04817	CCC			0.647	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001080835		A	240982009	G	A	240982009	3	1	140	1	0	0	0	0	1	0	0	0	12612	1261	44	3	781	3	PRR21	2	240982009	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	63993797	240982009	2217364	10	10299											
WHSC2	7469	mdanderson.org	37	chr4	1989687	1989687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccggcccttggcgtGgaagggcaccccggcgctcc	4	4	14	19	4	0	0	0	0	0	0	1	1	1	1	6	5	1	2	6	5	1	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr4:1989687G>T	ENST00000411638.2	-	4	607	c.592C>A	c.(592-594)Cac>Aac	p.H198N	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Missense_Mutation_p.H63N|NELFA_ENST00000382882.3_Missense_Mutation_p.H209N	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	198	HDAg-like.				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)										CCCTTGGCGTGGAAGGGCACC	0.647																																					p.H209N													.	.			0			c.C625A												33	36	35					4																	1989687		2203	4300	6503	SO:0001583	missense	7469	exon4			TGGCGTGGAAGGG	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.592C>A	4.37:g.1989687G>T	ENSP00000399165:p.His198Asn		31	0	0		40	0.1	4	NM_005663	10	0	0	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.831816	0.91036	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762	T;T;T;T;T	0.45276	1.63;0.91;0.9;1.63;1.63	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	L	0.57536	1.79	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.55218	-0.8175	10	0.30078	T	0.28	-21.978	17.4301	0.87537	0.0:0.0:1.0:0.0	.	198	Q9H3P2	NELFA_HUMAN	N	209;202;63;198;214;128	ENSP00000372335:H209N;ENSP00000387647:H202N;ENSP00000445757:H63N;ENSP00000399165:H198N;ENSP00000395761:H214N	ENSP00000372335:H209N	H	-	1	0	WHSC2	1959485	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.430000	0.90283	2.454000	0.82982	0.563000	0.77884	CAC			0.647	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000473007.1		NM_005663		T	1989687	G	T	1989687	3	4	140	1	0	0	0	0	1	0	0	0	17388	1348	47	3	1026	3	WHSC2	4	1989687	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10		1989687	189164589	11	10300											
BEND4	389206	hgsc.bcm.edu;broad.mit.edu	37	chr4	42145741	42145742	+	Frame_Shift_Del	DEL	AG	AG	-																															ccgagagcaggtaattttgtAgagagtcagtgaaaaccctc																										TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr4:42145741_42145742delAG	ENST00000502486.1	-	3	1336_1337	c.757_758delCT	c.(757-759)ctafs	p.L253fs	BEND4_ENST00000504360.1_Frame_Shift_Del_p.L249fs	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	253										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GTAATTTTGTAGAGAGTCAGTG	0.48																																					p.253_253del													.	BEND4	67		0			c.758_759del																																									SO:0001589	frameshift_variant	389206	exon3			TTTTGTAGAGAGT	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.757_758delCT	4.37:g.42145745_42145746delAG	ENSP00000421169:p.Leu253fs		114	0	0		148	0.08	12	NM_001159547	6	0	0	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Frame_Shift_Del	DEL	ENST00000502486.1	37	CCDS47048.1																																																																																					0.48	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360975.2		NM_207406		-	42145742	AG	-	42145741	7	5	140	1	0	1	0	1	0	0	0	0	1400	420	15	0	862	0	BEND4	4	42145741	Frame_Shift_Del	DEL	AG	TCGA-ZM-AA05-01A-12D-A435-10	40156054	42145741	149008535	12	10301											
KIT	3815	hgsc.bcm.edu;broad.mit.edu	37	chr4	55599320	55599320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattttggtctagccagaGacatcaagaatgattctaat	13	13	9	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	5	rs121913506		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr4:55599320G>T	ENST00000288135.5	+	17	2543	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816Y			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,0,932	KIT	0	932	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	c.G2446T												144	146	145					4																	55599320		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GCCAGAGACATCA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>T	4.37:g.55599320G>T	ENSP00000288135:p.Asp816Tyr		62	0.0161290323	1		116	0.09	11	NM_000222	1	0	0	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976091	0.92982	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.62	5.62	0.85841	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	0.000011	D	0.87869	0.6286	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.65684	0.937;0.919	D	0.88642	0.3176	10	0.87932	D	0	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	Y	816;812	ENSP00000288135:D816Y;ENSP00000390987:D812Y	ENSP00000288135:D816Y	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55599320	G	T	55599320	3	4	140	1	0	0	0	0	1	0	0	0	8344	942	33	3	2512	3	KIT	4	55599320	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	13453579	55599320	135554956	13	10302											
DSPP	1834	bcgsc.ca	37	chr4	88536953	88536953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgatagcagtgacagcagcGatagcagtgacagcagtgac	13	5	14	9	2	0	3	0	3	0	0	0	5	0	3	0	0	5	4	0	0	2	2	rs200486992		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr4:88536953G>A	ENST00000282478.7	+	4	3172	c.3139G>A	c.(3139-3141)Gat>Aat	p.D1047N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1047N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1047	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcgatagcagtga	0.527																																					p.D1047N													.	DSPP	174		0			c.G3139A												46	57	53					4																	88536953		1537	2773	4310	SO:0001583	missense	1834	exon5			AGCAGCGATAGCA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3139G>A	4.37:g.88536953G>A	ENSP00000282478:p.Asp1047Asn		50	0.02	1		71	0.1	7	NM_014208	0		0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	3.566	-0.088574	0.07097	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88201	-2.35;-2.35	1.51	-1.84	0.07809	.	.	.	.	.	T	0.78355	0.4270	L	0.34521	1.04	0.09310	N	1	B	0.26708	0.157	B	0.08055	0.003	T	0.61637	-0.7022	9	0.38643	T	0.18	.	5.2365	0.15448	0.5606:0.0:0.4394:0.0	.	1047	Q9NZW4	DSPP_HUMAN	N	1047	ENSP00000382213:D1047N;ENSP00000282478:D1047N	ENSP00000282478:D1047N	D	+	1	0	DSPP	88755977	0.032000	0.19561	0.079000	0.20413	0.006000	0.05464	0.451000	0.21779	-0.607000	0.05738	-0.791000	0.03333	GAT			0.527	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		A	88536953	G	A	88536953	3	1	140	1	0	0	0	0	1	0	0	0	4787	1058	37	1	3153	1	DSPP	4	88536953	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	32937633	88536953	102617323	14	10303											
ANK2	287	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	114271404	114271404	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgatatgacatcagaaaaAagtaagaatttaaagaaaat	23	9	6	3	1	1	4	1	1	0	3	2	5	1	4	0	0	0	1	0	0	10	4			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr4:114271404A>C	ENST00000357077.4	+	37	4478	c.4425A>C	c.(4423-4425)aaA>aaC	p.K1475N	ANK2_ENST00000506722.1_Splice_Site_p.K1466N|ANK2_ENST00000394537.3_Splice_Site_p.K1475N|ANK2_ENST00000264366.6_Splice_Site_p.K1442N|ANK2_ENST00000509550.1_Splice_Site_p.K651N|ANK2_ENST00000510275.2_Splice_Site_p.K127N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1475	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				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)		CATCAGAAAAAAGTAAGAATT	0.338																																					p.K1475N													.	.			0			c.A4425C												51	51	51					4																	114271404		2197	4295	6492	SO:0001630	splice_region_variant	287	exon37			AGAAAAAAGTAAG	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.4426+1A>C	4.37:g.114271404A>C			34	0	0		55	0.09	5	NM_001148	0		0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.66|17.66	3.445057|3.445057	0.63178|0.63178	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000509550;ENST00000510275|ENST00000514960;ENST00000504415	T;T;T;T;T;T;T;T|T;T	0.66280|0.76186	1.78;-0.2;1.78;-0.16;1.78;1.78;1.76;1.76|-1.0;0.3	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.111859|0.111859	0.39083|0.39083	N|N	0.001468|0.001468	T|T	0.77811|0.77811	0.4186|0.4186	M|M	0.61703|0.61703	1.905|1.905	0.45791|0.45791	D|D	0.998679|0.998679	B;B;P;B;B;B|.	0.41910|.	0.002;0.418;0.764;0.209;0.414;0.122|.	B;B;B;B;B;B|.	0.36922|.	0.002;0.157;0.199;0.138;0.076;0.236|.	T|T	0.73557|0.73557	-0.3945|-0.3945	10|8	0.28530|0.16420	T|T	0.3|0.52	.|.	14.1969|14.1969	0.65677|0.65677	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	651;1442;476;1475;1475;1466|.	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.;.|.	N|Q	1388;1466;1490;1475;1475;1442;651;127|477;128	ENSP00000421011:K1388N;ENSP00000421067:K1466N;ENSP00000424722:K1490N;ENSP00000378044:K1475N;ENSP00000349588:K1475N;ENSP00000264366:K1442N;ENSP00000426944:K651N;ENSP00000421023:K127N|ENSP00000422853:K477Q;ENSP00000426994:K128Q	ENSP00000264366:K1442N|ENSP00000426994:K128Q	K|K	+|+	3|1	2|0	ANK2|ANK2	114490853|114490853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.224000|6.224000	0.72265|0.72265	2.082000|2.082000	0.62665|0.62665	0.533000|0.533000	0.62120|0.62120	AAA|AAA			0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256422.2		NM_001148	Missense_Mutation	C	114271404	A	C	114271404	5	2	140	1	0	0	0	0	0	0	1	0	621	28	1	4	4636	4	ANK2	4	114271404	Splice_Site	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10	25734451	114271404	76882872	15	10304											
DDX60	55601	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	169146761	169146761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taggaaagtggtaaagtcctCcataattttcatgttatatt	13	16	7	5	0	1	0	1	0	0	0	3	1	3	1	2	2	0	2	2	2	7	8			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr4:169146761C>T	ENST00000393743.3	-	34	4891	c.4600G>A	c.(4600-4602)Gag>Aag	p.E1534K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1534					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTAAAGTCCTCCATAATTTTC	0.348																																					p.E1534K													.	.			0			c.G4600A												104	107	106					4																	169146761		2203	4300	6503	SO:0001583	missense	55601	exon34			AGTCCTCCATAAT	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4600G>A	4.37:g.169146761C>T	ENSP00000377344:p.Glu1534Lys		116	0	0		132	0.12	16	NM_017631	3	0.67	2	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.415|2.415	-0.334517|-0.334517	0.05278|0.05278	.|.	.|.	ENSG00000137628|ENSG00000137628	ENST00000393743|ENST00000511317	T|.	0.16597|.	2.33|.	5.82|5.82	-5.37|-5.37	0.02681|0.02681	.|.	1.039030|.	0.07563|.	N|.	0.917281|.	T|.	0.14399|.	0.0348|.	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.08055|.	0.001;0.003|.	T|.	0.32428|.	-0.9907|.	10|.	0.02654|.	T|.	1|.	.|.	8.9614|8.9614	0.35849|0.35849	0.0:0.4726:0.2276:0.2998|0.0:0.4726:0.2276:0.2998	.|.	1534;26|.	Q8IY21;Q9NT91|.	DDX60_HUMAN;.|.	K|X	1534|26	ENSP00000377344:E1534K|.	ENSP00000377344:E1534K|.	E|W	-|-	1|3	0|0	DDX60|DDX60	169383336|169383336	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.893000|-0.893000	0.04127|0.04127	-1.205000|-1.205000	0.02645|0.02645	-0.471000|-0.471000	0.05019|0.05019	GAG|TGG			0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364622.1		NM_017631		T	169146761	C	T	169146761	3	4	140	1	0	0	0	0	1	0	0	0	4380	864	30	3	558	3	DDX60	4	169146761	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	54875357	169146761	22007515	16	10305											
BRD9	65980	mdanderson.org	37	chr5	884095	884095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctgtcccgagcttcGtcagctgcgtgctccaccag	5	11	10	15	3	1	1	1	1	0	0	5	2	4	1	4	0	4	3	4	0	0	2	rs372444870		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr5:884095G>T	ENST00000467963.1	-	8	1090	c.924C>A	c.(922-924)gaC>gaA	p.D308E	BRD9_ENST00000483173.1_Missense_Mutation_p.D255E|BRD9_ENST00000323510.4_Missense_Mutation_p.D212E|BRD9_ENST00000435709.2_Missense_Mutation_p.D192E|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000388890.4_Missense_Mutation_p.D192E	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	308					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CCCGAGCTTCGTCAGCTGCGT	0.632																																					p.D308E													.	.			0			c.C924A												131	101	111					5																	884095		2203	4300	6503	SO:0001583	missense	65980	exon8			AGCTTCGTCAGCT	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.924C>A	5.37:g.884095G>T	ENSP00000419765:p.Asp308Glu		50	0	0		44	0.07	3	NM_023924	6	0	0	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	g	8.749	0.920842	0.17982	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	4.85	-1.02	0.10135	.	0.093476	0.64402	D	0.000001	T	0.52354	0.1729	M	0.72479	2.2	0.53688	D	0.999977	D;D;D;D	0.64830	0.994;0.984;0.993;0.98	D;P;P;P	0.63192	0.912;0.855;0.715;0.715	T	0.53301	-0.8458	10	0.12766	T	0.61	-18.5571	12.1767	0.54190	0.7593:0.0:0.2407:0.0	.	255;308;212;192	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	E	212;192;255;308;192;212	ENSP00000323557:D212E;ENSP00000373542:D192E;ENSP00000419845:D255E;ENSP00000419765:D308E;ENSP00000402984:D192E;ENSP00000420722:D212E	ENSP00000323557:D212E	D	-	3	2	BRD9	937095	0.980000	0.34600	0.020000	0.16555	0.002000	0.02628	0.224000	0.17738	-0.661000	0.05345	-1.753000	0.00675	GAC			0.632	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354113.1		NM_023924		T	884095	G	T	884095	3	4	140	1	0	0	0	0	1	0	0	0	1509	1136	40	1	905	1	BRD9	5	884095	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10		884095	180031165	17	10306											
SEPT8	23176	mdanderson.org	37	chr5	132096546	132096546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgaggtggcgtgcaaggCctgcgactgcagggcctcca	6	6	16	13	3	0	0	0	0	0	0	1	2	1	0	3	4	4	2	3	4	1	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr5:132096546C>A	ENST00000378719.2	-	9	1471	c.1234G>T	c.(1234-1236)Gcc>Tcc	p.A412S	SEPT8_ENST00000378721.4_Missense_Mutation_p.A410S|SEPT8_ENST00000448933.1_Missense_Mutation_p.A352S|SEPT8_ENST00000296873.7_Missense_Mutation_p.A412S|SEPT8_ENST00000378706.1_Missense_Mutation_p.A412S|SEPT8_ENST00000378701.1_Missense_Mutation_p.A410S|SEPT8_ENST00000378699.2_Missense_Mutation_p.A352S|SEPT8_ENST00000481030.1_5'UTR|SEPT8_ENST00000458488.2_Missense_Mutation_p.A412S	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	412					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.A412S(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGTGCAAGGCCTGCGACTGC	0.647																																					p.A412S													SEPT8,NS,carcinoma,0,1	SEPT8	0	1	1	Substitution - Missense(1)	lung(1)	c.G1234T												75	84	81					5																	132096546		2105	4217	6322	SO:0001583	missense	23176	exon9			GCAAGGCCTGCGA	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.1234G>T	5.37:g.132096546C>A	ENSP00000367991:p.Ala412Ser		61	0.0163934426	1		116	0.12	14	NM_015146	0		0	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	9.058	0.993883	0.19043	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	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	5.7	4.78	0.61160	.	0.474581	0.22708	N	0.056614	T	0.61565	0.2357	N	0.14661	0.345	0.32810	D	0.501365	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.10450	0.003;0.005;0.004;0.005	T	0.56086	-0.8037	10	0.02654	T	1	.	12.0014	0.53232	0.3358:0.6642:0.0:0.0	.	410;410;412;412	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	S	412;410;412;352;412;352;410;412	ENSP00000367991:A412S;ENSP00000367993:A410S;ENSP00000296873:A412S;ENSP00000399840:A352S;ENSP00000367978:A412S;ENSP00000367971:A352S;ENSP00000367973:A410S;ENSP00000394766:A412S	ENSP00000296873:A412S	A	-	1	0	SEPT8	132124445	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.306000	0.51881	2.683000	0.91414	0.655000	0.94253	GCC			0.647	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000132827.2		XM_034872		A	132096546	C	A	132096546	3	1	140	1	0	0	0	0	1	0	0	0	14093	739	26	2	280	2	SEPT8	5	132096546	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	131212451	132096546	48818714	18	10307											
FAM53C	51307	broad.mit.edu	37	chr5	137681245	137681245	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtcaagcggcgccacGaggaagacccccggcgtctg	7	4	16	14	5	2	1	1	0	1	1	2	3	2	2	3	5	1	0	3	5	2	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr5:137681245G>T	ENST00000239906.5	+	4	1296	c.868G>T	c.(868-870)Gag>Tag	p.E290*	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Silent_p.T99T|FAM53C_ENST00000434981.2_Nonsense_Mutation_p.E290*	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	290										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCGGCGCCACGAGGAAGACCC	0.617																																					p.E290X													.	FAM53C	35		0			c.G868T												46	55	52					5																	137681245		2202	4300	6502	SO:0001587	stop_gained	51307	exon4			CGCCACGAGGAAG	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.868G>T	5.37:g.137681245G>T	ENSP00000239906:p.Glu290*		99	0	0		113	0.03	3	NM_001135647	2	0	0	B2RDJ5|D3DQB9	Nonsense_Mutation	SNP	ENST00000239906.5	37	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	G	39	7.598061	0.98381	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	.	.	.	5.55	5.55	0.83447	.	0.151126	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.6793	18.4386	0.90656	0.0:0.0:1.0:0.0	.	.	.	.	X	290	.	ENSP00000239906:E290X	E	+	1	0	FAM53C	137709144	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	3.573000	0.53856	2.894000	0.99253	0.655000	0.94253	GAG			0.617	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251278.2		NM_016605		T	137681245	G	T	137681245	4	4	140	1	0	0	0	0	0	1	0	0	5594	1059	37	1	878	1	FAM53C	5	137681245	Nonsense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	5584699	137681245	43234015	19	10308											
KIAA1191	57179	mdanderson.org	37	chr5	175777718	175777718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctgtcgctcaaaatgCtgaatgctttcctgggtctg	6	13	10	12	1	2	1	1	1	1	0	4	1	3	1	3	1	3	3	3	1	3	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr5:175777718C>T	ENST00000298569.4	-	6	890	c.357G>A	c.(355-357)caG>caA	p.Q119Q	KIAA1191_ENST00000393728.2_Intron|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Silent_p.Q100Q|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Silent_p.Q119Q	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	119						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.101)		GCTCAAAATGCTGAATGCTTT	0.537																																					p.Q119Q													.	.			0			c.G357A												146	123	131					5																	175777718		2203	4300	6503	SO:0001819	synonymous_variant	57179	exon6			AAAATGCTGAATG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.357G>A	5.37:g.175777718C>T			39	0	0		46	0.07	3	NM_020444	13	0	0	B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Silent	SNP	ENST00000298569.4	37	CCDS4399.1																																																																																					0.537	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253146.2		NM_020444		T	175777718	C	T	175777718	2	4	140	1	0	0	0	0	0	0	0	1	8227	796	28	2		2	KIAA1191	5	175777718	Silent	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	38096473	175777718	5137542	20	10309											
RPP40	10799	ucsc.edu	37	chr6	4995431	4995431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaaccatgttcatttttttCccaagaaacagggctgtctg	12	13	7	9	0	2	1	1	0	1	1	3	1	3	1	2	1	2	2	2	1	4	4			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr6:4995431C>T	ENST00000380051.2	-	8	1017	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	RPP40_ENST00000464646.1_Missense_Mutation_p.E265K|RPP40_ENST00000319533.5_Missense_Mutation_p.E302K	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	325					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TCATTTTTTTCCCAAGAAACA	0.388																																					p.E325K													.	RPP40	36		0			c.G973A												71	72	72					6																	4995431		2203	4300	6503	SO:0001583	missense	10799	exon8			TTTTTTCCCAAGA	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"ribonuclease P1", "ribonuclease P 40kDa subunit"	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.973G>A	6.37:g.4995431C>T	ENSP00000369391:p.Glu325Lys		101	0.0099009901	1		122	0.01	1	NM_006638	71	0.1	7	Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	0.180	-1.062924	0.01950	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.41758	0.99;0.99;0.99	4.96	3.81	0.43845	.	0.242381	0.49916	D	0.000127	T	0.03095	0.0091	N	0.00707	-1.245	0.20196	N	0.999929	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.45600	-0.9250	10	0.05959	T	0.93	-5.6552	9.1685	0.37065	0.0:0.0884:0.0:0.9116	.	302;325	O75818-2;O75818	.;RPP40_HUMAN	K	325;302;265	ENSP00000369391:E325K;ENSP00000317998:E302K;ENSP00000419431:E265K	ENSP00000317998:E302K	E	-	1	0	RPP40	4940430	1.000000	0.71417	0.998000	0.56505	0.239000	0.25481	2.455000	0.44988	0.749000	0.32854	-0.302000	0.09304	GAA			0.388	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039733.2		NM_006638		T	4995431	C	T	4995431	3	4	140	1	0	0	0	0	1	0	0	0	13637	864	30	3	122	3	RPP40	6	4995431	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10		4995431	166119636	21	10310											
PFDN6	10471	broad.mit.edu	37	chr6	33258148	33258148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtggtctttaaacttctgGgtccggtgctagtcaaacag	9	12	11	9	2	3	0	1	0	2	0	4	0	4	0	1	3	3	1	1	3	4	4			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr6:33258148G>T	ENST00000395131.1	+	4	587	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000374606.5_Missense_Mutation_p.G61C|PFDN6_ENST00000374607.1_Missense_Mutation_p.G61C|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000463584.1_Missense_Mutation_p.G61C|PFDN6_ENST00000374610.2_Missense_Mutation_p.G61C|WDR46_ENST00000477718.1_5'Flank			O15212	PFD6_HUMAN	prefoldin subunit 6	61					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(1)	2						TAAACTTCTGGGTCCGGTGCT	0.537																																					p.G61C													.	PFDN6	9		0			c.G181T												101	101	101					6																	33258148		2203	4300	6503	SO:0001583	missense	10471	exon3			CTTCTGGGTCCGG	BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"HLA class II region expressed gene KE2", "prefoldin 6"	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.181G>T	6.37:g.33258148G>T	ENSP00000378563:p.Gly61Cys		102	0	0		186	0.03	5	NM_001185181	770	0	1		Missense_Mutation	SNP	ENST00000395131.1	37	CCDS4773.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576008	0.86645	.	.	ENSG00000204220	ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607;ENST00000463584	D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98	5.63	4.76	0.60689	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	D	0.92351	0.7573	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93701	0.7015	10	0.87932	D	0	.	10.5071	0.44841	0.0867:0.0:0.9133:0.0	.	61	O15212	PFD6_HUMAN	C	61	ENSP00000378563:G61C;ENSP00000363734:G61C;ENSP00000363738:G61C;ENSP00000363735:G61C;ENSP00000420135:G61C	ENSP00000363734:G61C	G	+	1	0	PFDN6	33366126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.672000	0.83956	1.618000	0.50286	0.643000	0.83706	GGT			0.537	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276361.1		NM_014260		T	33258148	G	T	33258148	3	4	140	1	0	0	0	0	1	0	0	0	11776	1232	43	3	191	3	PFDN6	6	33258148	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	28262717	33258148	137856919	22	10311											
SLC26A8	116369	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	35960389	35960389	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcagccaggtaagcActcattgcagactccggaag	12	5	11	13	1	1	1	1	0	0	1	2	2	2	2	3	2	4	4	3	2	2	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr6:35960389A>G	ENST00000490799.1	-	6	1043	c.690T>C	c.(688-690)agT>agC	p.S230S	SLC26A8_ENST00000355574.2_Silent_p.S230S|SLC26A8_ENST00000394602.2_Intron	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						CCAGGTAAGCACTCATTGCAG	0.478																																					p.S230S													.	.			0			c.T690C												131	124	127					6																	35960389		2203	4300	6503	SO:0001819	synonymous_variant	116369	exon6			GTAAGCACTCATT	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.690T>C	6.37:g.35960389A>G			60	0	0		57	0.16	9	NM_052961	0		0		Silent	SNP	ENST00000490799.1	37	CCDS4813.1																																																																																					0.478	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040325.2				G	35960389	A	G	35960389	2	3	140	1	0	0	0	0	0	0	0	1	14546	156	6	4		4	SLC26A8	6	35960389	Silent	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10	2702241	35960389	135154678	23	10312											
SMPD2	6610	broad.mit.edu	37	chr6	109764880	109764880	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctggcggctggaggAggggccggggaagctgccat	5	7	20	9	2	0	0	0	0	0	0	1	3	1	3	3	8	2	2	3	8	1	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr6:109764880A>G	ENST00000258052.3	+	10	1403	c.1044A>G	c.(1042-1044)ggA>ggG	p.G348G	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)	348					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)		CGGCTGGAGGAGGGGCCGGGG	0.632																																					p.G348G													.	SMPD2	25		0			c.A1044G												48	54	52					6																	109764880		2203	4300	6503	SO:0001819	synonymous_variant	6610	exon10			TGGAGGAGGGGCC	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.1044A>G	6.37:g.109764880A>G			64	0	0		106	0.04	4	NM_003080	83	0.02	2	Q5TED1|Q9BWR3	Silent	SNP	ENST00000258052.3	37	CCDS5075.1																																																																																					0.632	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041755.1				G	109764880	A	G	109764880	2	3	140	1	0	0	0	0	0	0	0	1	14828	291	11	4		4	SMPD2	6	109764880	Silent	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10	73804491	109764880	61350187	24	10313											
TTYH3	80727	mdanderson.org	37	chr7	2686862	2686862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctccgccacgccaaccGcacggtggccggggtccagg	5	4	14	18	6	0	0	0	0	0	0	3	0	2	0	6	5	1	2	6	5	1	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr7:2686862G>A	ENST00000258796.7	+	3	585	c.380G>A	c.(379-381)cGc>cAc	p.R127H	TTYH3_ENST00000407643.1_Missense_Mutation_p.R127H|TTYH3_ENST00000403167.1_5'Flank	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	127					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CACGCCAACCGCACGGTGGCC	0.711																																					p.R127H													.	.			0			c.G380A												12	14	13					7																	2686862		2184	4269	6453	SO:0001583	missense	80727	exon3			CCAACCGCACGGT		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.380G>A	7.37:g.2686862G>A	ENSP00000258796:p.Arg127His		29	0	0		43	0.07	3	NM_025250	4	0	0	A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695794	0.30052	.	.	ENSG00000136295	ENST00000258796;ENST00000407643	T;T	0.10573	2.86;2.86	5.37	5.37	0.77165	.	0.099877	0.64402	D	0.000001	T	0.05318	0.0141	N	0.03324	-0.35	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.21690	-1.0238	10	0.02654	T	1	.	19.0999	0.93269	0.0:0.0:1.0:0.0	.	127	Q9C0H2	TTYH3_HUMAN	H	127	ENSP00000258796:R127H;ENSP00000385316:R127H	ENSP00000258796:R127H	R	+	2	0	TTYH3	2653388	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.203000	0.58453	2.524000	0.85096	0.561000	0.74099	CGC			0.711	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325082.2		XM_166523		A	2686862	G	A	2686862	3	1	140	1	0	0	0	0	1	0	0	0	16765	1087	38	1	390	1	TTYH3	7	2686862	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10		2686862	156451801	25	10314											
TSPAN13	27075	broad.mit.edu	37	chr7	16817466	16817466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaatacggcaagtgctcGaaatgacatccagagaaatc	17	6	9	9	2	0	2	0	1	0	1	3	5	1	2	1	1	3	2	1	1	6	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr7:16817466G>T	ENST00000262067.4	+	4	789	c.356G>T	c.(355-357)cGa>cTa	p.R119L	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	119						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GCAAGTGCTCGAAATGACATC	0.388																																					p.R119L													.	TSPAN13	13		0			c.G356T												106	98	100					7																	16817466		2203	4300	6503	SO:0001583	missense	27075	exon4			GTGCTCGAAATGA	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"Tetraspanins"	21643	protein-coding gene	gene with protein product		613139	"transmembrane 4 superfamily member 13"	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.356G>T	7.37:g.16817466G>T	ENSP00000262067:p.Arg119Leu		128	0	0		253	0.02	5	NM_014399	0		0		Missense_Mutation	SNP	ENST00000262067.4	37	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893749	0.52121	.	.	ENSG00000106537	ENST00000262067	D	0.82893	-1.66	5.74	3.92	0.45320	.	0.170354	0.52532	D	0.000071	T	0.73102	0.3544	L	0.47190	1.495	0.25552	N	0.987078	B	0.06786	0.001	B	0.11329	0.006	T	0.54200	-0.8329	10	0.09338	T	0.73	-21.2365	8.8657	0.35284	0.281:0.0:0.719:0.0	.	119	O95857	TSN13_HUMAN	L	119	ENSP00000262067:R119L	ENSP00000262067:R119L	R	+	2	0	TSPAN13	16783991	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	2.605000	0.46283	1.433000	0.47394	0.655000	0.94253	CGA			0.388	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250178.2		NM_014399		T	16817466	G	T	16817466	3	4	140	1	0	0	0	0	1	0	0	0	16661	1058	37	1	370	1	TSPAN13	7	16817466	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	14130604	16817466	142321197	26	10315											
NUP205	23165	broad.mit.edu	37	chr7	135291662	135291662	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaaacctacaagatccAggtatagcctaagacataaa	19	7	5	10	0	0	2	0	0	0	2	1	2	1	2	3	1	4	1	3	1	9	6			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr7:135291662A>G	ENST00000285968.6	+	21	3095	c.3069A>G	c.(3067-3069)ccA>ccG	p.P1023P		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1023					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)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	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)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TACAAGATCCAGGTATAGCCT	0.408																																					p.P1023P													.	NUP205	198		0			c.A3069G												114	107	110					7																	135291662		2203	4300	6503	SO:0001630	splice_region_variant	23165	exon21			AGATCCAGGTATA	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3070+1A>G	7.37:g.135291662A>G			93	0	0		160	0.02	3	NM_015135	0		0	A6H8X3|Q86YC1	Splice_Site	SNP	ENST00000285968.6	37	CCDS34759.1																																																																																					0.408	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340358.1			Silent	G	135291662	A	G	135291662	5	3	140	1	0	0	0	0	0	0	1	0	10776	202	7	4	3151	4	NUP205	7	135291662	Splice_Site	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10	118474196	135291662	23847001	27	10316											
GIMAP6	474344	broad.mit.edu	37	chr7	150325069	150325069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgggcctcctgctccTccccctgtgccctgttgttg	1	13	11	16	0	0	0	0	0	0	0	3	0	3	0	6	1	2	5	6	1	0	3			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr7:150325069T>C	ENST00000328902.5	-	3	833	c.617A>G	c.(616-618)gAg>gGg	p.E206G	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	206	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)		CTCCTGCTCCTCCCCCTGTGC	0.537																																					p.E276G													.	GIMAP6	60		0			c.A827G												120	126	124					7																	150325069		2203	4300	6503	SO:0001583	missense	474344	exon3			TGCTCCTCCCCCT	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.617A>G	7.37:g.150325069T>C	ENSP00000330374:p.Glu206Gly		93	0.0215053763	2		149	0.03	5	NM_001244072	1	0	0	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	T	4.619	0.115073	0.08831	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06218	3.33	4.2	-8.4	0.00965	AIG1 (1);	1.587260	0.03706	N	0.249495	T	0.04861	0.0131	L	0.37507	1.11	0.09310	N	1	B;B	0.24426	0.041;0.103	B;B	0.30572	0.117;0.058	T	0.34279	-0.9835	10	0.26408	T	0.33	.	3.2795	0.06909	0.1753:0.0943:0.1338:0.5966	.	206;126	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	G	206;267	ENSP00000330374:E206G	ENSP00000330374:E206G	E	-	2	0	GIMAP6	149956002	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-2.136000	0.01305	-1.814000	0.01224	0.460000	0.39030	GAG			0.537	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353457.1		NM_024711		C	150325069	T	C	150325069	3	2	140	1	0	0	0	0	1	0	0	0	6397	1551	54	4	265	4	GIMAP6	7	150325069	Missense_Mutation	SNP	T	TCGA-ZM-AA05-01A-12D-A435-10	15033407	150325069	8813594	28	10317											
ATG9B	285973	broad.mit.edu	37	chr7	150715013	150715013	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaggaacagatgtccccaAccccagccacatccacagtg	14	4	7	16	0	0	1	0	0	0	1	2	2	2	2	6	1	3	0	6	1	3	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr7:150715013A>C	ENST00000377974.2	-	8	2072	c.1997T>G	c.(1996-1998)gTt>gGt	p.V666G	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.V152G|ATG9B_ENST00000605938.1_Missense_Mutation_p.V666G			Q674R7	ATG9B_HUMAN	autophagy related 9B	666					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)		GATGTCCCCAACCCCAGCCAC	0.587											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.													.	ATG9B	51		0			.																																									SO:0001583	missense	285973	.			TCCCCAACCCCAG	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.1997T>G	7.37:g.150715013A>C	ENSP00000475005:p.Val666Gly		66	0.0303030303	2	1734	90	0.07	6	.	1	0	0	A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37		.	.	.	.	.	.	.	.	.	.	A	18.03	3.531478	0.64972	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.43	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	.	.	.	.	.	.	D	0.89917	1.0	D	0.83275	0.996	T	0.80612	-0.1305	7	0.87932	D	0	.	8.802	0.34914	0.9115:0.0:0.0885:0.0	.	666	Q674R7	ATG9B_HUMAN	G	666;152;666	.	ENSP00000444232:V666G	V	-	2	0	AC010973.1	150345946	1.000000	0.71417	0.659000	0.29680	0.974000	0.67602	7.426000	0.80270	2.054000	0.61138	0.460000	0.39030	GTT			0.587	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_173681		C	150715013	A	C	150715013	3	2	140	1	0	0	0	0	1	0	0	0	1103	43	2	4	800	4	ATG9B	7	150715013	Missense_Mutation	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10	389944	150715013	8423650	29	10318											
MFHAS1	9258	broad.mit.edu	37	chr8	8747748	8747748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggctagcaatggacaGggtgtctggctgcaggactc	8	9	15	9	0	1	0	0	0	1	0	2	2	1	2	0	5	3	5	0	5	2	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr8:8747748G>T	ENST00000276282.6	-	1	3407	c.2821C>A	c.(2821-2823)Ctg>Atg	p.L941M		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	941										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCAATGGACAGGGTGTCTGGC	0.507																																					p.L941M	Melanoma(103;1201 2045 17515 28966)												.	MFHAS1	58		0			c.C2821A												99	99	99					8																	8747748		2203	4300	6503	SO:0001583	missense	9258	exon1			TGGACAGGGTGTC	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2821C>A	8.37:g.8747748G>T	ENSP00000276282:p.Leu941Met		182	0	0		244	0.02	4	NM_004225	4	0	0	Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872493	0.72180	.	.	ENSG00000147324	ENST00000276282	T	0.38887	1.11	5.72	4.79	0.61399	.	0.000000	0.64402	D	0.000014	T	0.57902	0.2085	L	0.54323	1.7	0.51012	D	0.999902	D	0.89917	1.0	D	0.69307	0.963	T	0.55464	-0.8137	10	0.45353	T	0.12	.	15.2994	0.73936	0.0:0.14:0.8599:0.0	.	941	Q9Y4C4	MFHA1_HUMAN	M	941	ENSP00000276282:L941M	ENSP00000276282:L941M	L	-	1	2	MFHAS1	8785158	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.001000	0.49488	2.715000	0.92844	0.655000	0.94253	CTG			0.507	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374724.2		NM_004225		T	8747748	G	T	8747748	3	4	140	1	0	0	0	0	1	0	0	0	9537	991	35	3	349	3	MFHAS1	8	8747748	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10		8747748	137616274	30	10319											
DUSP26	78986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	33449560	33449560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaccctgccgcagcctgcGgtccagggccaggagctgcc	6	4	14	17	2	0	1	0	0	0	1	1	2	1	2	6	3	5	2	6	3	0	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr8:33449560G>T	ENST00000256261.4	-	4	1124	c.607C>A	c.(607-609)Cgc>Agc	p.R203S	DUSP26_ENST00000523956.1_Missense_Mutation_p.R203S	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	203	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CGCAGCCTGCGGTCCAGGGCC	0.652																																					p.R203S													.	.			0			c.C607A												59	61	61					8																	33449560		2203	4300	6503	SO:0001583	missense	78986	exon4			GCCTGCGGTCCAG	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.607C>A	8.37:g.33449560G>T	ENSP00000256261:p.Arg203Ser		71	0	0		83	0.13	11	NM_024025	0		0	D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317783	0.23994	.	.	ENSG00000133878	ENST00000256261;ENST00000523956	D;D	0.85861	-2.04;-2.04	4.8	4.8	0.61643	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.655189	0.16024	N	0.233169	T	0.67906	0.2943	N	0.08118	0	0.44677	D	0.997664	B	0.12013	0.005	B	0.14578	0.011	T	0.61589	-0.7032	10	0.07325	T	0.83	-26.6292	11.1317	0.48351	0.0:0.0:0.7667:0.2333	.	203	Q9BV47	DUS26_HUMAN	S	203	ENSP00000256261:R203S;ENSP00000429176:R203S	ENSP00000256261:R203S	R	-	1	0	DUSP26	33569102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.326000	0.43849	2.388000	0.81334	0.549000	0.68633	CGC			0.652	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376564.1		NM_024025		T	33449560	G	T	33449560	3	4	140	1	0	0	0	0	1	0	0	0	4828	1116	39	1	32	1	DUSP26	8	33449560	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	24701812	33449560	112914462	31	10320											
EPPK1	83481	bcgsc.ca;mdanderson.org	37	chr8	144940501	144940501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggggtcggtgtagccggtGacggcgcgctcggccgacag	5	6	19	11	7	0	1	0	1	0	0	2	2	0	1	2	6	1	2	2	6	2	2	rs540333192	byFrequency	TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr8:144940501G>A	ENST00000525985.1	-	2	6992	c.6921C>T	c.(6919-6921)gtC>gtT	p.V2307V				P58107	EPIPL_HUMAN	epiplakin 1	2307						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)			TGTAGCCGGTGACGGCGCGCT	0.701													G|||	3	0.000599042	0	0.0014	5008	,	,		71043	0		0.001	False		,,,				2504	0.001				p.V2307V													.	EPPK1	199		0			c.C6921T												149	148	148					8																	144940501		2183	4263	6446	SO:0001819	synonymous_variant	83481	exon1			GCCGGTGACGGCG	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.6921C>T	8.37:g.144940501G>A			89	0.0112359551	1		150	0.08	12	NM_031308	3	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																						0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382675.1		NM_031308		A	144940501	G	A	144940501	2	1	140	1	0	0	0	0	0	0	0	1	5197	1277	45	3		3	EPPK1	8	144940501	Silent	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	111490941	144940501	1423521	32	10321											
PLEC	5339	broad.mit.edu;mdanderson.org	37	chr8	144996952	144996952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcagcttgaggcgctcaGcctcagcgctcatctccagc	7	7	10	17	3	4	1	3	1	1	0	5	1	4	1	2	1	4	4	2	1	0	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr8:144996952G>T	ENST00000322810.4	-	31	7725	c.7556C>A	c.(7555-7557)gCt>gAt	p.A2519D	PLEC_ENST00000356346.3_Missense_Mutation_p.A2368D|PLEC_ENST00000354589.3_Missense_Mutation_p.A2382D|PLEC_ENST00000354958.2_Missense_Mutation_p.A2360D|PLEC_ENST00000436759.2_Missense_Mutation_p.A2409D|PLEC_ENST00000345136.3_Missense_Mutation_p.A2382D|PLEC_ENST00000527096.1_Missense_Mutation_p.A2405D|PLEC_ENST00000357649.2_Missense_Mutation_p.A2386D|PLEC_ENST00000398774.2_Missense_Mutation_p.A2350D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2519	Central fibrous rod domain.				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						GAGGCGCTCAGCCTCAGCGCT	0.701																																					p.A2519D													.	PLEC	1144		0			c.C7556A												9	10	10					8																	144996952		2110	4236	6346	SO:0001583	missense	5339	exon31			CGCTCAGCCTCAG	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.7556C>A	8.37:g.144996952G>T	ENSP00000323856:p.Ala2519Asp		37	0.0810810811	3		62	0.16	10	NM_201380	5	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655978	0.47467	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78816	-1.18;-1.18;-1.21;-1.21;-1.19;-1.18;-1.17;-1.18;-1.18	5.08	5.08	0.68730	.	0.190384	0.31519	U	0.007510	D	0.84656	0.5520	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.70016	0.967;0.967;0.967;0.928;0.967;0.967;0.967;0.967	T	0.81649	-0.0837	10	0.23891	T	0.37	.	18.0666	0.89392	0.0:0.0:1.0:0.0	.	2409;2368;2360;2519;2350;2382;2386;2382	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	D	2382;2386;2382;2350;2519;2360;2368;2409;2405	ENSP00000344848:A2382D;ENSP00000350277:A2386D;ENSP00000346602:A2382D;ENSP00000381756:A2350D;ENSP00000323856:A2519D;ENSP00000347044:A2360D;ENSP00000348702:A2368D;ENSP00000388180:A2409D;ENSP00000434583:A2405D	ENSP00000323856:A2519D	A	-	2	0	PLEC	145068940	1.000000	0.71417	0.993000	0.49108	0.900000	0.52787	5.529000	0.67135	2.379000	0.81126	0.549000	0.68633	GCT			0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445		T	144996952	G	T	144996952	3	4	140	1	0	0	0	0	1	0	0	0	12069	971	34	2	6506	2	PLEC	8	144996952	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	56451	144996952	1367070	33	10322											
CDHR1	92211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr10	85972858	85972858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcacaggccatagacgaGgatgcagaggaacccaacaa	15	3	12	11	2	0	2	0	0	0	2	0	5	0	4	2	3	4	2	2	3	4	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr10:85972858G>C	ENST00000372117.3	+	16	1897	c.1794G>C	c.(1792-1794)gaG>gaC	p.E598D	CDHR1_ENST00000332904.3_Missense_Mutation_p.E598D|CDHR1_ENST00000440770.2_Missense_Mutation_p.E302D	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	598	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						CCATAGACGAGGATGCAGAGG	0.557																																					p.E598D													.	.			0			c.G1794C												113	99	104					10																	85972858		2203	4300	6503	SO:0001583	missense	92211	exon16			AGACGAGGATGCA	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.1794G>C	10.37:g.85972858G>C	ENSP00000361189:p.Glu598Asp		93	0	0		148	0.11	16	NM_001171971	0		0	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	2.481	-0.319677	0.05386	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.52526	0.66;0.66;0.66	5.93	2.82	0.32997	Cadherin (4);Cadherin-like (1);	0.571454	0.20829	N	0.084934	T	0.23688	0.0573	N	0.20483	0.58	0.30015	N	0.814806	B;B;B	0.27625	0.183;0.002;0.003	B;B;B	0.25506	0.061;0.006;0.015	T	0.09443	-1.0674	10	0.12430	T	0.62	-6.9964	3.1163	0.06376	0.0849:0.2078:0.4443:0.263	.	302;598;598	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	D	598;598;302	ENSP00000331063:E598D;ENSP00000361189:E598D;ENSP00000415980:E302D	ENSP00000331063:E598D	E	+	3	2	CDHR1	85962838	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	0.747000	0.26290	1.523000	0.49018	0.655000	0.94253	GAG			0.557	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049111.1		NM_033100		C	85972858	G	C	85972858	3	2	140	1	0	0	0	0	1	0	0	0	3120	991	35	5	1856	5	CDHR1	10	85972858	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10		85972858	49561889	34	10323											
ACSL5	51703	broad.mit.edu	37	chr10	114182136	114182136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaaggaccctgagaaGacacaggaagccctggacag	14	4	12	11	0	0	3	0	2	0	2	0	7	0	6	3	3	2	0	3	3	4	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr10:114182136G>T	ENST00000393081.1	+	17	1837	c.1530G>T	c.(1528-1530)aaG>aaT	p.K510N	ACSL5_ENST00000356116.1_Missense_Mutation_p.K566N|ACSL5_ENST00000354273.4_Missense_Mutation_p.K510N|ACSL5_ENST00000354655.4_Missense_Mutation_p.K510N|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.K510N|ACSL5_ENST00000369410.3_Missense_Mutation_p.K292N	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	510					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|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)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ACCCTGAGAAGACACAGGAAG	0.517																																					p.K566N													.	ACSL5	51		0			c.G1698T												109	101	103					10																	114182136		2203	4300	6503	SO:0001583	missense	51703	exon17			TGAGAAGACACAG	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1530G>T	10.37:g.114182136G>T	ENSP00000376796:p.Lys510Asn		52	0	0		92	0.05	5	NM_016234	17	0	0	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011141	0.54361	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.71	-1.65	0.08291	AMP-dependent synthetase/ligase (1);	0.059403	0.64402	D	0.000001	T	0.64583	0.2611	M	0.91038	3.17	0.58432	D	0.999998	D;D;D;D	0.57899	0.958;0.975;0.981;0.957	D;P;D;P	0.64321	0.924;0.856;0.914;0.885	T	0.71586	-0.4548	10	0.62326	D	0.03	-19.2743	12.5337	0.56131	0.5642:0.0:0.4358:0.0	.	292;510;566;510	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	N	510;510;566;510;510;292	ENSP00000346680:K510N;ENSP00000376796:K510N;ENSP00000348429:K566N;ENSP00000403647:K510N;ENSP00000346223:K510N;ENSP00000358418:K292N	ENSP00000346223:K510N	K	+	3	2	ACSL5	114172126	0.997000	0.39634	0.912000	0.35992	0.983000	0.72400	0.524000	0.22940	-0.182000	0.10602	0.555000	0.69702	AAG			0.517	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050386.1		NM_016234		T	114182136	G	T	114182136	3	4	140	1	0	0	0	0	1	0	0	0	180	933	33	3	1764	3	ACSL5	10	114182136	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	28209278	114182136	21352611	35	10324											
ZDHHC24	254359	mdanderson.org	37	chr11	66307129	66307129	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggctgcctgcaggttgtgGcagggacccaggtcatagga	8	7	17	9	0	1	0	1	0	0	0	1	2	1	2	2	6	2	4	2	6	1	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr11:66307129G>T	ENST00000310442.3	-	3	960	c.726C>A	c.(724-726)tgC>tgA	p.C242*	ZDHHC24_ENST00000525925.1_5'Flank|ZDHHC24_ENST00000526986.1_Intron|CTD-3074O7.12_ENST00000602427.1_lincRNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	242						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GCAGGTTGTGGCAGGGACCCA	0.687																																					p.C242X													.	.			0			c.C726A												20	23	22					11																	66307129		2199	4293	6492	SO:0001587	stop_gained	254359	exon3			GTTGTGGCAGGGA	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.726C>A	11.37:g.66307129G>T	ENSP00000309429:p.Cys242*		20	0	0		27	0.11	3	NM_207340	63	0	0	Q6PEW7|Q9BSJ0	Nonsense_Mutation	SNP	ENST00000310442.3	37	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171970	0.94807	.	.	ENSG00000174165	ENST00000310442	.	.	.	4.95	2.94	0.34122	.	0.913837	0.09376	N	0.810696	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-0.1776	10.7178	0.46023	0.0:0.4845:0.5155:0.0	.	.	.	.	X	242	.	ENSP00000309429:C242X	C	-	3	2	ZDHHC24	66063705	0.004000	0.15560	0.589000	0.28718	0.990000	0.78478	0.024000	0.13555	1.011000	0.39340	0.491000	0.48974	TGC			0.687	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393089.1		NM_207340		T	66307129	G	T	66307129	4	4	140	1	0	0	0	0	0	1	0	0	17638	1195	42	2	132	2	ZDHHC24	11	66307129	Nonsense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10		66307129	68699387	36	10325											
UNC93B1	81622	broad.mit.edu	37	chr11	67763107	67763107	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtcttgttcagggcActgcccacaccccaaagggc	9	7	10	15	0	2	0	1	0	1	0	3	0	3	0	4	2	1	2	4	2	1	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr11:67763107A>G	ENST00000227471.2	-	10	1414	c.1335T>C	c.(1333-1335)agT>agC	p.S445S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TGTTCAGGGCACTGCCCACAC	0.617																																					.													.	.			0			.												10	10	10					11																	67763107		1758	3730	5488	SO:0001819	synonymous_variant	81622	.			CAGGGCACTGCCC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1335T>C	11.37:g.67763107A>G			75	0.0266666667	2		82	0.06	5	.	72	0	0	O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37																																																																																						0.617	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_030930		G	67763107	A	G	67763107	2	3	140	1	0	0	0	0	0	0	0	1	17021	156	6	4		4	UNC93B1	11	67763107	Silent	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10	1455978	67763107	67243409	37	10326											
BCL9L	283149	mdanderson.org	37	chr11	118769751	118769751	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacacccggtgggtatgcGtcgcccatgcgcccagccat	7	6	12	16	4	0	0	0	0	0	0	1	0	0	0	4	2	4	2	4	2	1	1	rs141872454		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr11:118769751G>A	ENST00000334801.3	-	8	4837	c.3873C>T	c.(3871-3873)gaC>gaT	p.D1291D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1291	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)	p.D1291D(2)		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)		GTGGGTATGCGTCGCCCATGC	0.697													G|||	1	0.000199681	0	0	5008	,	,		15302	0		0.001	False		,,,				2504	0				p.D1291D													BCL9L_ENST00000392849,NS,carcinoma,0,2	BCL9L_ENST00000392849	0	2	2	Substitution - coding silent(2)	endometrium(2)	c.C3873T							G		0,4400		0,0,2200	28	27	27		3873	-5.3	0	11	dbSNP_134	27	3,8583	3.0+/-9.4	0,3,4290	yes	coding-synonymous	BCL9L	NM_182557.2		0,3,6490	AA,AG,GG		0.0349,0.0,0.0231		1291/1500	118769751	3,12983	2200	4293	6493	SO:0001819	synonymous_variant	283149	exon8			GTATGCGTCGCCC	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.3873C>T	11.37:g.118769751G>A			40	0	0		43	0.07	3	NM_182557	5	0	0	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	CCDS8403.1																																																																																			0		0.697	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389653.1		NM_182557		A	118769751	G	A	118769751	2	1	140	1	0	0	0	0	0	0	0	1	1382	1136	40	1		1	BCL9L	11	118769751	Silent	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	51006644	118769751	16236765	38	10327											
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_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)																											p.G12V	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	KRAS_ENST00000256078,NS,adenocarcinoma,0,25136	KRAS_ENST00000256078	0	25136	15813	Substitution - Missense(15812)|Deletion - Frameshift(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)	c.G35T												91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	exon2	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	ACGCCACCAGCTC	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		181	0	0		302	0.07	20	NM_004985	1	0	0	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	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		A	25398284	C	A	25398284	3	1	140	1	0	0	0	0	1	0	0	0	8453	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10		25398284	108453611	39	10328											
RACGAP1	29127	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	50393482	50393482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgccatcattgggaacaGtcactgtagtttttgcaact	9	12	9	11	1	2	0	2	0	0	0	2	1	2	1	2	1	3	3	2	1	3	4			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr12:50393482G>C	ENST00000427314.2	-	10	888	c.665C>G	c.(664-666)aCt>aGt	p.T222S	RACGAP1_ENST00000551016.1_Missense_Mutation_p.T222S|RACGAP1_ENST00000312377.5_Missense_Mutation_p.T222S|RACGAP1_ENST00000547905.1_Missense_Mutation_p.T222S|RACGAP1_ENST00000454520.2_Missense_Mutation_p.T222S|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000434422.1_Missense_Mutation_p.T222S	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ATTGGGAACAGTCACTGTAGT	0.438																																					p.T222S													.	.			0			c.C665G												83	74	77					12																	50393482		2203	4300	6503	SO:0001583	missense	29127	exon10			GGAACAGTCACTG		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.665C>G	12.37:g.50393482G>C	ENSP00000404190:p.Thr222Ser		94	0	0		101	0.1	10	NM_013277	7	0	0		Missense_Mutation	SNP	ENST00000427314.2	37	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483735	0.44147	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342;ENST00000552310;ENST00000550149	T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;2.71;-0.46;-0.46	5.42	5.42	0.78866	.	0.091527	0.85682	D	0.000000	T	0.56321	0.1977	L	0.45051	1.395	0.58432	D	0.999998	B	0.22146	0.065	B	0.18263	0.021	T	0.51116	-0.8746	10	0.17832	T	0.49	-16.6555	12.9821	0.58570	0.084:0.0:0.916:0.0	.	222	Q9H0H5	RGAP1_HUMAN	S	222;222;222;222;222;222;13;222;148	ENSP00000404190:T222S;ENSP00000309871:T222S;ENSP00000413241:T222S;ENSP00000404808:T222S;ENSP00000449374:T222S;ENSP00000449370:T222S;ENSP00000449565:T13S;ENSP00000448697:T222S;ENSP00000446642:T148S	ENSP00000309871:T222S	T	-	2	0	RACGAP1	48679749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.056000	0.71111	2.536000	0.85505	0.462000	0.41574	ACT			0.438	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405997.1		NM_013277		C	50393482	G	C	50393482	3	2	140	1	0	0	0	0	1	0	0	0	13000	1029	36	5	1273	5	RACGAP1	12	50393482	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	24995198	50393482	83458413	40	10329											
KRT82	3888	mdanderson.org	37	chr12	52794398	52794398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcatcaggaaggctgtGtccacgtcctgcagcagagc	8	8	12	13	1	2	1	2	0	0	1	4	2	4	2	3	2	3	3	3	2	1	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr12:52794398G>T	ENST00000257974.2	-	4	767	c.690C>A	c.(688-690)gaC>gaA	p.D230E	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	230	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGAAGGCTGTGTCCACGTCCT	0.612																																					p.D230E													.	.			0			c.C690A												100	84	89					12																	52794398		2203	4300	6503	SO:0001583	missense	3888	exon4			GGCTGTGTCCACG	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.690C>A	12.37:g.52794398G>T	ENSP00000257974:p.Asp230Glu		31	0	0		47	0.06	3	NM_033033	0		0		Missense_Mutation	SNP	ENST00000257974.2	37	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464779	0.63513	.	.	ENSG00000161850	ENST00000257974	D	0.91237	-2.81	5.03	1.68	0.24146	Filament (1);	0.000000	0.52532	D	0.000071	D	0.95258	0.8462	M	0.92459	3.31	0.27952	N	0.937104	D	0.89917	1.0	D	0.87578	0.998	D	0.88764	0.3259	10	0.87932	D	0	.	7.8157	0.29258	0.3802:0.0:0.6198:0.0	.	230	Q9NSB4	KRT82_HUMAN	E	230	ENSP00000257974:D230E	ENSP00000257974:D230E	D	-	3	2	KRT82	51080665	0.567000	0.26626	0.999000	0.59377	0.805000	0.45488	1.018000	0.30002	0.647000	0.30713	0.462000	0.41574	GAC			0.612	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405189.1		NM_033033		T	52794398	G	T	52794398	3	4	140	1	0	0	0	0	1	0	0	0	8511	1368	48	3	875	3	KRT82	12	52794398	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	2400916	52794398	81057497	41	10330											
ZMYM2	7750	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr13	20610939	20610939	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgagatgtgttacttgcAactattgttctcagctatgt	9	17	9	6	0	1	1	1	1	1	1	2	3	1	1	0	0	4	4	0	0	4	7			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr13:20610939A>T	ENST00000382874.2	+	13	2372	c.2182A>T	c.(2182-2184)Aac>Tac	p.N728Y	ZMYM2_ENST00000382883.3_Missense_Mutation_p.N210Y|ZMYM2_ENST00000382869.3_Missense_Mutation_p.N728Y|ZMYM2_ENST00000382871.2_Missense_Mutation_p.N728Y	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	728					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGTTACTTGCAACTATTGTTC	0.328																																					p.N728Y													.	.			0			c.A2182T												125	117	119					13																	20610939		1837	4093	5930	SO:0001583	missense	7750	exon13			ACTTGCAACTATT	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2182A>T	13.37:g.20610939A>T	ENSP00000372327:p.Asn728Tyr		126	0	0		136	0.09	12	NM_001190964	3	0	0	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437051	0.83885	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T;T;T	0.45668	2.18;2.18;2.18;0.89	5.51	5.51	0.81932	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62440	-0.6854	10	0.72032	D	0.01	-8.193	15.6207	0.76805	1.0:0.0:0.0:0.0	.	728	Q9UBW7	ZMYM2_HUMAN	Y	728;728;728;728;210;108	ENSP00000372322:N728Y;ENSP00000372327:N728Y;ENSP00000372324:N728Y;ENSP00000372336:N210Y	ENSP00000372322:N728Y	N	+	1	0	ZMYM2	19508939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.097000	0.63578	0.397000	0.26171	AAC			0.328	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044051.2		NM_003453		T	20610939	A	T	20610939	3	4	140	1	0	0	0	0	1	0	0	0	17723	130	5	5	2220	5	ZMYM2	13	20610939	Missense_Mutation	SNP	A	TCGA-ZM-AA05-01A-12D-A435-10		20610939	94558939	42	10331											
NUPL1	9818	bcgsc.ca	37	chr13	25875927	25875927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatgtccacagggttcTccttcgggtccgggactctg	6	10	12	13	2	2	1	0	0	2	1	6	2	4	2	3	3	0	1	3	3	0	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr13:25875927T>C	ENST00000381736.3	+	1	266	c.16T>C	c.(16-18)Tcc>Ccc	p.S6P	RP11-271M24.2_ENST00000568856.2_lincRNA|NUPL1_ENST00000381718.3_Missense_Mutation_p.S6P|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.S6P	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	6					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)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CACAGGGTTCTCCTTCGGGTC	0.672																																					p.S6P	Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												.	NUPL1	37		0			c.T16C												35	35	35					13																	25875927		2202	4300	6502	SO:0001583	missense	9818	exon1			GGGTTCTCCTTCG	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.16T>C	13.37:g.25875927T>C	ENSP00000371155:p.Ser6Pro		69	0	0		58	0.07	4	NM_014089	8	0	0	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783878	0.31593	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747	T;T;T;T	0.38560	1.28;1.17;1.36;1.13	4.4	3.18	0.36537	.	0.222263	0.45126	D	0.000398	T	0.41949	0.1181	L	0.60455	1.87	0.41244	D	0.986662	B;B;B	0.34015	0.435;0.435;0.435	B;B;B	0.40602	0.234;0.234;0.334	T	0.32613	-0.9900	10	0.54805	T	0.06	-5.4636	8.183	0.31322	0.1786:0.0:0.0:0.8214	.	6;6;6	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	P	6	ENSP00000371155:S6P;ENSP00000418555:S6P;ENSP00000371137:S6P;ENSP00000371166:S6P	ENSP00000318459:S6P	S	+	1	0	NUPL1	24773927	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	2.474000	0.45154	0.622000	0.30249	0.482000	0.46254	TCC			0.672	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000044228.2				C	25875927	T	C	25875927	3	2	140	1	0	0	0	0	1	0	0	0	10791	1551	54	4	18	4	NUPL1	13	25875927	Missense_Mutation	SNP	T	TCGA-ZM-AA05-01A-12D-A435-10	5264988	25875927	89293951	43	10332											
ACIN1	22985	broad.mit.edu	37	chr14	23530745	23530745	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaccgggggtgggggTggggggtgcaggggccgtgg	2	5	28	6	2	0	0	0	0	0	0	0	1	0	1	2	12	1	2	2	12	0	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr14:23530745T>G	ENST00000262710.1	-	17	3687	c.3360A>C	c.(3358-3360)ccA>ccC	p.P1120P	ACIN1_ENST00000397341.3_Silent_p.P362P|ACIN1_ENST00000338631.6_Silent_p.P393P|ACIN1_ENST00000605057.1_Silent_p.P1062P|ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000555053.1_Silent_p.P1107P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1120	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGGGTGGGGGTGGGGGGTGCA	0.657																																					p.P1120P													.	ACIN1	147		0			c.A3360C												7	10	9					14																	23530745		2074	3973	6047	SO:0001819	synonymous_variant	22985	exon17			TGGGGGTGGGGGG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3360A>C	14.37:g.23530745T>G			50	0.1	5		77	0.23	18	NM_014977	67	0.04	3	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	CCDS9587.1																																																																																					0.657	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000071707.3		NM_014977		G	23530745	T	G	23530745	2	3	140	1	0	0	0	0	0	0	0	1	142	1683	59	4		4	ACIN1	14	23530745	Silent	SNP	T	TCGA-ZM-AA05-01A-12D-A435-10		23530745	83818795	44	10333											
KIAA0586	9786	broad.mit.edu	37	chr14	58934640	58934640	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcagcttactgtgcaGgtatgccagggtgcatgagt	7	11	12	11	0	1	1	1	1	0	0	2	1	2	1	3	2	5	4	3	2	2	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr14:58934640G>T	ENST00000556134.1	+	17	2671	c.2397G>T	c.(2395-2397)caG>caT	p.Q799H	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Splice_Site_p.Q770H|KIAA0586_ENST00000261244.5_Splice_Site_p.Q738H|KIAA0586_ENST00000354386.6_Splice_Site_p.Q867H	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	799					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTACTGTGCAGGTATGCCAGG	0.348																																					p.Q867H													.	KIAA0586	180		0			c.G2601T												60	57	58					14																	58934640		1821	4084	5905	SO:0001630	splice_region_variant	9786	exon18			TGTGCAGGTATGC	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2397+1G>T	14.37:g.58934640G>T			115	0	0		143	0.03	5	NM_001244189	0		0	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Splice_Site	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017526	0.75161	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.76002	2.32	0.51482	D	0.999924	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.994;0.999;0.999	T	0.79417	-0.1812	10	0.87932	D	0	.	19.663	0.95879	0.0:0.0:1.0:0.0	.	674;674;867;738;799;770	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	H	867;799;770;738;674	ENSP00000346359:Q867H;ENSP00000452351:Q799H;ENSP00000399427:Q770H;ENSP00000261244:Q738H	ENSP00000261244:Q738H	Q	+	3	2	KIAA0586	58004393	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.654000	0.74387	2.648000	0.89879	0.655000	0.94253	CAG			0.348	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000411887.1		NM_014749	Missense_Mutation	T	58934640	G	T	58934640	5	4	140	1	0	0	0	0	0	0	1	0	8201	1014	35	3	2272	3	KIAA0586	14	58934640	Splice_Site	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	35403895	58934640	48414900	45	10334											
C14orf4	64207	mdanderson.org	37	chr14	77493785	77493785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgttgctgctgctg	0	15	14	12	0	0	0	0	0	0	0	0	0	0	0	0	0	12	13	0	0	0	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr14:77493785C>T	ENST00000238647.3	-	1	1249	c.351G>A	c.(349-351)caG>caA	p.Q117Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	117	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgctgctgctgctgctgtt	0.701																																					p.Q117Q													.	.			0			c.G351A												3	2	2					14																	77493785		1218	2264	3482	SO:0001819	synonymous_variant	64207	exon1			CTGCTGCTGCTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.351G>A	14.37:g.77493785C>T			16	0	0		19	0.16	3	NM_024496	1	0	0	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																					0.701	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414298.1		NM_024496		T	77493785	C	T	77493785	2	4	140	1	0	0	0	0	0	0	0	1	1775	796	28	2		2	C14orf4	14	77493785	Silent	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	18559145	77493785	29855755	46	10335											
TDP1	55775	mdanderson.org	37	chr14	90499479	90499479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttcaaagtgaaacagaaGttcttcgctggcagccagga	13	9	11	8	1	2	2	1	1	1	1	3	3	2	3	1	2	2	4	1	2	3	3			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr14:90499479G>T	ENST00000335725.4	+	16	1924	c.1674G>T	c.(1672-1674)aaG>aaT	p.K558N	TDP1_ENST00000393454.2_Missense_Mutation_p.K558N|TDP1_ENST00000393452.3_Missense_Mutation_p.V574F|TDP1_ENST00000357382.3_Missense_Mutation_p.K319N|TDP1_ENST00000555880.1_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	558					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)		TGAAACAGAAGTTCTTCGCTG	0.443								Repair of DNA-protein crosslinks																													p.K558N													.	.			0			c.G1674T												63	59	60					14																	90499479		2203	4300	6503	SO:0001583	missense	55775	exon16			ACAGAAGTTCTTC	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.1674G>T	14.37:g.90499479G>T	ENSP00000337353:p.Lys558Asn		69	0	0		106	0.05	5	NM_018319	14	0	0	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	CCDS9888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.181|7.181	0.589586|0.589586	0.13812|0.13812	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000393454;ENST00000335725;ENST00000357382|ENST00000393452;ENST00000556063	T;T;T|T	0.42131|0.33438	0.98;0.98;0.98|1.41	5.9|5.9	0.81|0.81	0.18732|0.18732	.|.	0.254499|.	0.44688|.	D|.	0.000432|.	T|T	0.16599|0.16599	0.0399|0.0399	N|N	0.16478|0.16478	0.41|0.41	0.32703|0.32703	N|N	0.512588|0.512588	B;B;B|P	0.09022|0.38250	0.001;0.002;0.002|0.624	B;B;B|B	0.10450|0.34722	0.005;0.002;0.004|0.188	T|T	0.19257|0.19257	-1.0311|-1.0311	10|9	0.19147|0.51188	T|T	0.46|0.08	-23.9936|-23.9936	7.9911|7.9911	0.30242|0.30242	0.6564:0.0:0.3436:0.0|0.6564:0.0:0.3436:0.0	.|.	558;319;558|574	B2RDI0;Q86TV8;Q9NUW8|E7EPD8	.;.;TYDP1_HUMAN|.	N|F	558;558;319|574;199	ENSP00000377099:K558N;ENSP00000337353:K558N;ENSP00000349952:K319N|ENSP00000377098:V574F	ENSP00000337353:K558N|ENSP00000377098:V574F	K|V	+|+	3|1	2|0	TDP1|TDP1	89569232|89569232	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.201000|0.201000	0.24016|0.24016	0.879000|0.879000	0.28146|0.28146	-0.089000|-0.089000	0.12484|0.12484	-0.225000|-0.225000	0.12378|0.12378	AAG|GTT			0.443	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411239.1		NM_018319		T	90499479	G	T	90499479	3	4	140	1	0	0	0	0	1	0	0	0	15751	1020	36	3	1728	3	TDP1	14	90499479	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	13005694	90499479	16850061	47	10336											
TRMT61A	115708	mdanderson.org	37	chr14	104001019	104001019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaacgtgcgcactgtcaGcctgccaccgcccgacctgg	7	6	10	18	4	1	0	1	0	0	0	1	1	1	0	5	1	5	1	5	1	2	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr14:104001019G>T	ENST00000389749.4	+	4	838	c.731G>T	c.(730-732)aGc>aTc	p.S244I		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	244						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						CGCACTGTCAGCCTGCCACCG	0.697																																					p.S244I													.	.			0			c.G731T												15	22	20					14																	104001019		2135	4223	6358	SO:0001583	missense	115708	exon4			CTGTCAGCCTGCC	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.731G>T	14.37:g.104001019G>T	ENSP00000374399:p.Ser244Ile		35	0.0857142857	3		67	0.15	10	NM_152307	13	0	0	A6NN78|Q8N7Q9	Missense_Mutation	SNP	ENST00000389749.4	37	CCDS41994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.740375|1.740375	0.30865|0.30865	.|.	.|.	ENSG00000166166|ENSG00000166166	ENST00000299202|ENST00000389749;ENST00000299201	.|T	.|0.45668	.|0.89	4.67|4.67	3.63|3.63	0.41609|0.41609	.|.	.|0.658034	.|0.15514	.|N	.|0.258391	T|T	0.26774|0.26774	0.0655|0.0655	N|N	0.20483|0.20483	0.58|0.58	0.41995|0.41995	D|D	0.990869|0.990869	.|B	.|0.24132	.|0.098	.|B	.|0.23716	.|0.048	T|T	0.11179|0.11179	-1.0598|-1.0598	5|10	.|0.42905	.|T	.|0.14	-4.0183|-4.0183	8.2926|8.2926	0.31967|0.31967	0.2251:0.0:0.7749:0.0|0.2251:0.0:0.7749:0.0	.|.	.|244	.|Q96FX7	.|TRM61_HUMAN	S|I	146|244	.|ENSP00000374399:S244I	.|ENSP00000299201:S244I	A|S	+|+	1|2	0|0	TRMT61A|TRMT61A	103070772|103070772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	2.535000|2.535000	0.45685|0.45685	2.140000|2.140000	0.66376|0.66376	0.313000|0.313000	0.20887|0.20887	GCC|AGC			0.697	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414988.1		NM_152307		T	104001019	G	T	104001019	3	4	140	1	0	0	0	0	1	0	0	0	16593	971	34	2	741	2	TRMT61A	14	104001019	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	13501540	104001019	3348521	48	10337											
TMEM179	388021	mdanderson.org	37	chr14	105070822	105070822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgcgccaggcgtgcgcgGcggccagcagcagagacagg	7	2	19	13	6	0	1	0	0	0	1	0	2	0	1	2	4	4	2	2	4	0	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr14:105070822G>T	ENST00000556573.1	-	1	498	c.257C>A	c.(256-258)gCc>gAc	p.A86D	TMEM179_ENST00000341595.3_Missense_Mutation_p.A86D			Q6ZVK1	T179A_HUMAN	transmembrane protein 179	86						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		GGCGTGCGCGGCGGCCAGCAG	0.746																																					p.A86D													.	.			0			c.C257A												5	7	6					14																	105070822		2070	4132	6202	SO:0001583	missense	388021	exon1			TGCGCGGCGGCCA	AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 90"	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.257C>A	14.37:g.105070822G>T	ENSP00000450958:p.Ala86Asp		38	0	0		44	0.07	3	NM_207379	0		0		Missense_Mutation	SNP	ENST00000556573.1	37		.	.	.	.	.	.	.	.	.	.	G	23.2	4.392483	0.83011	.	.	ENSG00000189203;ENSG00000258986;ENSG00000258986	ENST00000415614;ENST00000556573;ENST00000341595	T;T;T	0.22945	1.93;1.93;1.93	2.75	1.69	0.24217	.	0.199608	0.43110	D	0.000605	T	0.33469	0.0864	L	0.59436	1.845	0.50632	D	0.999888	D	0.53462	0.96	P	0.52856	0.711	T	0.18366	-1.0339	10	0.56958	D	0.05	.	9.9686	0.41741	0.1293:0.0:0.8707:0.0	.	86	Q6ZVK1-2	.	D	86	ENSP00000397763:A86D;ENSP00000450958:A86D;ENSP00000340477:A86D	ENSP00000340477:A86D	A	-	2	0	RP11-614O9.3;TMEM179	104141867	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.901000	0.69861	1.352000	0.45808	0.462000	0.41574	GCC			0.746	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000410585.1		NM_207379		T	105070822	G	T	105070822	3	4	140	1	0	0	0	0	1	0	0	0	16119	1203	42	2	348	2	TMEM179	14	105070822	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	1069803	105070822	2278718	49	10338											
MSLN	10232	mdanderson.org	37	chr16	816065	816065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgtgccctgcagagacagCctgtccttcaggcaagaagg	9	7	12	13	0	1	2	1	0	0	2	2	3	2	2	4	2	3	2	4	2	2	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr16:816065C>T	ENST00000382862.3	+	11	997	c.902C>T	c.(901-903)gCc>gTc	p.A301V	MSLN_ENST00000566549.1_Missense_Mutation_p.A301V|MSLN_ENST00000563941.1_Missense_Mutation_p.A301V|MSLN_ENST00000545450.2_Missense_Mutation_p.A301V	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	301					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCAGAGACAGCCTGTCCTTCA	0.612																																					p.A301V													.	.			0			c.C902T												33	35	34					16																	816065		2175	4281	6456	SO:0001583	missense	10232	exon12			AGACAGCCTGTCC	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.902C>T	16.37:g.816065C>T	ENSP00000372313:p.Ala301Val		33	0	0		35	0.09	3	NM_005823	0		0	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759902	0.31137	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.17691	2.26;2.26	4.67	-3.17	0.05202	.	0.938402	0.08871	N	0.881510	T	0.09686	0.0238	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.003;0.001	B;B;B;B	0.13407	0.005;0.008;0.009;0.005	T	0.38908	-0.9639	10	0.39692	T	0.17	-0.6079	1.0935	0.01668	0.1399:0.2779:0.301:0.2813	.	300;301;301;301	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	V	301	ENSP00000442965:A301V;ENSP00000372313:A301V	ENSP00000372313:A301V	A	+	2	0	MSLN	756066	0.000000	0.05858	0.173000	0.22940	0.071000	0.16799	-1.097000	0.03349	-0.187000	0.10516	0.551000	0.68910	GCC			0.612	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000109253.2				T	816065	C	T	816065	3	4	140	1	0	0	0	0	1	0	0	0	9897	739	26	2	940	2	MSLN	16	816065	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10		816065	89538688	50	10339											
MEFV	4210	broad.mit.edu	37	chr16	3304501	3304501	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctctagcgccctgcagggGccggggcttctcccgcccgg	2	6	14	19	4	2	0	0	0	2	0	3	0	2	0	5	5	2	2	5	5	1	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr16:3304501G>T	ENST00000219596.1	-	2	606	c.567C>A	c.(565-567)ggC>ggA	p.G189G	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	189					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						CCCTGCAGGGGCCGGGGCTTC	0.781																																					p.G189G													MEFV,NS,carcinoma,-2,1	MEFV	170	1	0			c.C567A												4	5	5					16																	3304501		1729	3556	5285	SO:0001819	synonymous_variant	4210	exon2			GCAGGGGCCGGGG	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.567C>A	16.37:g.3304501G>T			29	0.0689655172	2		38	0.11	4	NM_000243	0		0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																					0.781	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251464.1		NM_000243		T	3304501	G	T	3304501	2	4	140	1	0	0	0	0	0	0	0	1	9475	1190	42	2		2	MEFV	16	3304501	Silent	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	2488436	3304501	87050252	51	10340											
CREBBP	1387	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	3830851	3830851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggttccaatgttacCagagttggagccatcgttca	9	11	12	9	1	1	2	1	1	0	1	3	3	2	3	3	2	2	5	3	2	2	4			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr16:3830851C>T	ENST00000262367.5	-	8	2514	c.1705G>A	c.(1705-1707)Ggt>Agt	p.G569S	CREBBP_ENST00000382070.3_Missense_Mutation_p.G531S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	569					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)		CCAATGTTACCAGAGTTGGAG	0.483			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																														p.G569S				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.			0			c.G1705A												108	95	100					16																	3830851		2197	4300	6497	SO:0001583	missense	1387	exon8			TGTTACCAGAGTT	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.1705G>A	16.37:g.3830851C>T	ENSP00000262367:p.Gly569Ser		89	0	0		127	0.12	15	NM_004380	1	0	0	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902779	0.52227	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84070	-1.8;-1.74	5.53	5.53	0.82687	.	0.216002	0.41194	D	0.000923	D	0.87386	0.6164	M	0.64404	1.975	0.58432	D	0.999999	B;D	0.69078	0.23;0.997	B;P	0.62560	0.183;0.904	D	0.85196	0.1012	10	0.30078	T	0.28	-3.4353	12.7623	0.57372	0.0:0.9246:0.0:0.0754	.	599;569	Q4LE28;Q92793	.;CBP_HUMAN	S	569;599;531	ENSP00000262367:G569S;ENSP00000371502:G531S	ENSP00000262367:G569S	G	-	1	0	CREBBP	3770852	1.000000	0.71417	0.609000	0.28983	0.959000	0.62525	5.640000	0.67875	2.604000	0.88044	0.591000	0.81541	GGT			0.483	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251591.2		NM_004380		T	3830851	C	T	3830851	3	4	140	1	0	0	0	0	1	0	0	0	3863	594	21	3	5719	3	CREBBP	16	3830851	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	526350	3830851	86523902	52	10341											
SH2B1	25970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	28883695	28883695	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcggggtgaatacgtcctCaccttcaacttccagggcaa	10	8	11	12	2	2	1	2	1	0	0	4	1	4	1	3	4	2	1	3	4	4	3			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr16:28883695C>T	ENST00000322610.8	+	9	2137	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	SH2B1_ENST00000538342.1_Silent_p.L230L|SH2B1_ENST00000395532.4_Silent_p.L566L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Silent_p.L566L|SH2B1_ENST00000545570.1_Silent_p.L256L|SH2B1_ENST00000359285.5_Silent_p.L566L			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	566	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AATACGTCCTCACCTTCAACT	0.627																																					p.L566L													.	.			0			c.C1698T												51	52	51					16																	28883695		2197	4300	6497	SO:0001819	synonymous_variant	25970	exon7			CGTCCTCACCTTC	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1698C>T	16.37:g.28883695C>T			74	0	0		83	0.16	13	NM_001145796	54	0.02	1	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	CCDS53996.1																																																																																					0.627	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000432666.1		NM_015503		T	28883695	C	T	28883695	2	4	140	1	0	0	0	0	0	0	0	1	14250	813	29	3		3	SH2B1	16	28883695	Silent	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	25052844	28883695	61471058	53	10342											
TMCO7	79613	mdanderson.org	37	chr16	68912021	68912021	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttgtagtttttttgtagGttctggatttatttcacttt	5	25	7	4	0	3	0	1	0	2	0	3	1	3	1	0	2	0	4	0	2	3	12	rs201648074		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr16:68912021G>T	ENST00000261778.1	+	6	1144	c.1132G>T	c.(1132-1134)Gtt>Ttt	p.V378F		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	378						integral component of membrane (GO:0016021)											TTTTTTGTAGGTTCTGGATTT	0.308																																					p.V378F													.	.			0			c.G1132T												75	67	70					16																	68912021		1855	4103	5958	SO:0001630	splice_region_variant	79613	exon6			TTGTAGGTTCTGG		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1132-1G>T	16.37:g.68912021G>T			83	0	0		86	0.06	5	NM_024562	0		0	Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	9.592	1.126358	0.20959	.	.	ENSG00000103047	ENST00000261778	T	0.69806	-0.43	5.33	1.85	0.25348	.	.	.	.	.	T	0.48804	0.1520	N	0.24115	0.695	0.25999	N	0.982141	B	0.23735	0.09	B	0.24006	0.05	T	0.31081	-0.9956	8	.	.	.	-2.4143	8.6197	0.33853	0.7447:0.0:0.2553:0.0	.	378	Q9C0B7	TMCO7_HUMAN	F	378	ENSP00000261778:V378F	.	V	+	1	0	TMCO7	67469522	1.000000	0.71417	0.992000	0.48379	0.366000	0.29705	1.026000	0.30103	0.045000	0.15804	-1.128000	0.01989	GTT	0.002		0.308	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433471.2		XM_928235.2	Missense_Mutation	T	68912021	G	T	68912021	5	4	140	1	0	0	0	0	0	0	1	0	16024	1275	44	3	1154	3	TMCO7	16	68912021	Splice_Site	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	40028326	68912021	21442732	54	10343											
GAS8	2622	mdanderson.org	37	chr16	90097758	90097758	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggaccgcgagcgggagGaacgaaactacttccagctg	11	5	14	11	4	0	0	0	0	0	0	1	5	1	3	2	3	6	2	2	3	3	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr16:90097758G>T	ENST00000268699.4	+	3	264	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000536122.1_Nonsense_Mutation_p.E23*|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	48	Regulates microtubule-binding. {ECO:0000250}.				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)		CGAGCGGGAGGAACGAAACTA	0.622																																					p.E48X													.	.			0			c.G142T												98	91	93					16																	90097758		2198	4300	6498	SO:0001587	stop_gained	2622	exon3			CGGGAGGAACGAA	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.142G>T	16.37:g.90097758G>T	ENSP00000268699:p.Glu48*		43	0	0		44	0.07	3	NM_001481	1	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Nonsense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	37	6.600438	0.97697	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.8035	20.2366	0.98359	0.0:0.0:1.0:0.0	.	.	.	.	X	23;48;19;48	.	.	E	+	1	0	GAS8	88625259	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.564000	0.98151	2.792000	0.96026	0.557000	0.71058	GAA			0.622	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272877.2				T	90097758	G	T	90097758	4	4	140	1	0	0	0	0	0	1	0	0	6265	1175	41	3	152	3	GAS8	16	90097758	Nonsense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	21185737	90097758	256995	55	10344											
C17orf68	80169	mdanderson.org	37	chr17	8138529	8138529	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctttgaagcagaacggcGccacggaggcagggggcgag	11	3	18	9	4	0	2	0	1	0	1	0	4	0	3	1	5	3	3	1	5	3	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr17:8138529G>T	ENST00000315684.8	-	8	1288	c.1281C>A	c.(1279-1281)ggC>ggA	p.G427G	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	427					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						GCAGAACGGCGCCACGGAGGC	0.607																																					p.G427G													.	.			0			c.C1281A												62	70	68					17																	8138529		2063	4201	6264	SO:0001819	synonymous_variant	80169	exon8			AACGGCGCCACGG	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.1281C>A	17.37:g.8138529G>T			31	0	0		33	0.09	3	NM_025099	1	0	0	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																					0.607	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000442012.1		NM_025099		T	8138529	G	T	8138529	2	4	140	1	0	0	0	0	0	0	0	1	1878	1074	38	1		1	C17orf68	17	8138529	Silent	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10		8138529	73056681	56	10345											
MYO1D	4642	broad.mit.edu	37	chr17	31105537	31105537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactggggttggtgatggccGcaatatactgcataatgtac	10	11	13	7	1	0	1	0	1	0	0	0	2	0	1	1	4	3	4	1	4	5	5			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr17:31105537G>A	ENST00000318217.5	-	3	663	c.359C>T	c.(358-360)gCg>gTg	p.A120V	MYO1D_ENST00000394649.4_Missense_Mutation_p.A32V|MYO1D_ENST00000579584.1_Missense_Mutation_p.A120V|MYO1D_ENST00000583621.1_Missense_Mutation_p.A120V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	120	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)			GGTGATGGCCGCAATATACTG	0.438																																					p.A120V													.	MYO1D	93		0			c.C359T												190	165	174					17																	31105537		2203	4300	6503	SO:0001583	missense	4642	exon3			ATGGCCGCAATAT	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.359C>T	17.37:g.31105537G>A	ENSP00000324527:p.Ala120Val		221	0	0		279	0.01	4	NM_015194	2	0	0	A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	35	5.452549	0.96223	.	.	ENSG00000176658	ENST00000318217	D	0.90133	-2.62	5.2	5.2	0.72013	Myosin head, motor domain (3);	0.000000	0.37261	U	0.002172	D	0.96537	0.8870	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97086	0.9787	10	0.87932	D	0	.	16.6187	0.84924	0.0:0.0:1.0:0.0	.	31;120	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	120	ENSP00000324527:A120V	ENSP00000324527:A120V	A	-	2	0	MYO1D	28129650	1.000000	0.71417	0.633000	0.29310	0.993000	0.82548	9.596000	0.98267	2.861000	0.98227	0.655000	0.94253	GCG			0.438	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447457.1				A	31105537	G	A	31105537	3	1	140	1	0	0	0	0	1	0	0	0	10087	1087	38	1	2741	1	MYO1D	17	31105537	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	22967008	31105537	50089673	57	10346											
AOC3	8639	broad.mit.edu	37	chr17	41004673	41004673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaacagaaccagggccTccccctgcggcgacaccact	9	6	10	16	2	0	2	0	1	0	1	1	3	1	2	5	2	3	1	5	2	2	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr17:41004673T>C	ENST00000308423.2	+	1	1473	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	438					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AACCAGGGCCTCCCCCTGCGG	0.552																																					p.L438P	NSCLC(3;192 220 10664 11501 16477)												.	AOC3	88		0			c.T1313C												104	92	96					17																	41004673		2203	4300	6503	SO:0001583	missense	8639	exon1			AGGGCCTCCCCCT	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1313T>C	17.37:g.41004673T>C	ENSP00000312326:p.Leu438Pro		103	0.0097087379	1		122	0.03	4	NM_003734	1	0	0	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.045936	0.36085	.	.	ENSG00000131471	ENST00000308423	T	0.03920	3.76	4.64	4.64	0.57946	Copper amine oxidase, C-terminal (3);	0.075920	0.56097	D	0.000025	T	0.20129	0.0484	M	0.80982	2.52	0.20703	N	0.999863	D	0.89917	1.0	D	0.78314	0.991	T	0.02560	-1.1141	10	0.66056	D	0.02	.	10.631	0.45536	0.0:0.0785:0.0:0.9215	.	438	Q16853	AOC3_HUMAN	P	438	ENSP00000312326:L438P	ENSP00000312326:L438P	L	+	2	0	AOC3	38258199	0.001000	0.12720	0.997000	0.53966	0.634000	0.38068	1.191000	0.32138	2.093000	0.63338	0.482000	0.46254	CTC			0.552	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452444.1		NM_003734		C	41004673	T	C	41004673	3	2	140	1	0	0	0	0	1	0	0	0	728	1551	54	4	1315	4	AOC3	17	41004673	Missense_Mutation	SNP	T	TCGA-ZM-AA05-01A-12D-A435-10	9899136	41004673	40190537	58	10347											
KIF2B	84643	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr17	51901904	51901904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaactcacactggtgctcCgggactcctttataggccag	9	9	10	13	1	1	0	1	0	0	0	3	1	3	1	3	3	2	2	3	3	3	3			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr17:51901904C>T	ENST00000268919.4	+	1	1666	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	504	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)|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)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R504W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTGGTGCTCCGGGACTCCTT	0.478																																					p.R504W													KIF2B,NS,carcinoma,0,2	KIF2B	0	2	1	Substitution - Missense(1)	endometrium(1)	c.C1510T												52	50	51					17																	51901904		2203	4300	6503	SO:0001583	missense	84643	exon1			GTGCTCCGGGACT	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1510C>T	17.37:g.51901904C>T	ENSP00000268919:p.Arg504Trp		58	0	0		95	0.04	4	NM_032559	0		0	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165087	0.57476	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76448	-1.02	5.51	3.36	0.38483	Kinesin, motor domain (4);	0.000000	0.40728	N	0.001034	D	0.89598	0.6761	M	0.92691	3.335	0.41912	D	0.990472	D	0.89917	1.0	D	0.91635	0.999	D	0.91670	0.5349	10	0.87932	D	0	.	12.1655	0.54127	0.3756:0.6244:0.0:0.0	.	504	Q8N4N8	KIF2B_HUMAN	W	504;392	ENSP00000268919:R504W	ENSP00000268919:R504W	R	+	1	2	KIF2B	49256903	0.097000	0.21791	0.999000	0.59377	0.996000	0.88848	0.660000	0.25009	1.408000	0.46895	0.655000	0.94253	CGG			0.478	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438854.1		NM_032559		T	51901904	C	T	51901904	3	4	140	1	0	0	0	0	1	0	0	0	8313	643	23	1	1512	1	KIF2B	17	51901904	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	10897231	51901904	29293306	59	10348											
SDK2	54549	broad.mit.edu	37	chr17	71386453	71386453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcggtggtcaccaccaaggCctcggcagcttctccccagc	6	7	10	18	2	2	0	1	0	1	0	5	0	2	0	5	4	2	2	5	4	1	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr17:71386453C>A	ENST00000392650.3	-	29	4165	c.4165G>T	c.(4165-4167)Gcc>Tcc	p.A1389S	SDK2_ENST00000388726.3_Missense_Mutation_p.A1389S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1389	Fibronectin type-III 8. {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						ACCACCAAGGCCTCGGCAGCT	0.677																																					p.A1389S													.	SDK2	219		0			c.G4165T												28	25	26					17																	71386453		2201	4300	6501	SO:0001583	missense	54549	exon29			CCAAGGCCTCGGC	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.4165G>T	17.37:g.71386453C>A	ENSP00000376421:p.Ala1389Ser		54	0.037037037	2		36	0.17	6	NM_001144952	0		0	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712052	0.89112	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.53857	0.6;0.6;0.6	5.2	5.2	0.72013	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.055341	0.64402	D	0.000001	T	0.67126	0.2860	L	0.52266	1.64	0.54753	D	0.999988	D;D;D	0.69078	0.997;0.985;0.991	D;D;D	0.81914	0.995;0.98;0.991	T	0.62272	-0.6889	10	0.27082	T	0.32	.	18.3342	0.90282	0.0:1.0:0.0:0.0	.	1389;1389;1389	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	S	1013;1389;1389;565;1389	ENSP00000376421:A1389S;ENSP00000373378:A1389S;ENSP00000407098:A565S	ENSP00000324967:A1389S	A	-	1	0	SDK2	68898048	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.333000	0.79214	2.430000	0.82344	0.561000	0.74099	GCC			0.677	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327598.2		NM_019064		A	71386453	C	A	71386453	3	1	140	1	0	0	0	0	1	0	0	0	13992	739	26	2	2421	2	SDK2	17	71386453	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	19484549	71386453	9808757	60	10349											
LLGL2	3993	broad.mit.edu;mdanderson.org	37	chr17	73568068	73568068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccgagcccctcgaaGtggcccatgatctgtcgaag	7	8	10	16	3	1	1	0	1	1	0	4	4	2	1	5	1	1	0	5	1	2	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr17:73568068G>T	ENST00000392550.3	+	19	2500	c.2383G>T	c.(2383-2385)Gtg>Ttg	p.V795L	LLGL2_ENST00000577200.1_Missense_Mutation_p.V795L|LLGL2_ENST00000167462.5_Missense_Mutation_p.V795L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	795					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCCCCTCGAAGTGGCCCATGA	0.652																																					p.V795L													.	LLGL2	155		0			c.G2383T												40	37	38					17																	73568068		2202	4300	6502	SO:0001583	missense	3993	exon19			CTCGAAGTGGCCC	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2383G>T	17.37:g.73568068G>T	ENSP00000376333:p.Val795Leu		20	0	0		35	0.09	3	NM_004524	66	0	0	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663680	0.67700	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.56275	0.47;0.47	5.29	5.29	0.74685	.	0.236967	0.42294	D	0.000721	T	0.57607	0.2065	L	0.59436	1.845	0.47547	D	0.99945	B;P;P;P;P	0.41848	0.2;0.651;0.763;0.747;0.754	B;B;P;P;B	0.44772	0.142;0.266;0.453;0.46;0.41	T	0.56329	-0.7997	10	0.35671	T	0.21	-23.4617	18.9172	0.92510	0.0:0.0:1.0:0.0	.	422;784;784;795;795	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	L	795;795;784	ENSP00000167462:V795L;ENSP00000376333:V795L	ENSP00000167462:V795L	V	+	1	0	LLGL2	71079663	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.807000	0.99171	2.484000	0.83849	0.462000	0.41574	GTG			0.652	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000447633.1		NM_004524		T	73568068	G	T	73568068	3	4	140	1	0	0	0	0	1	0	0	0	8849	1029	36	3	2488	3	LLGL2	17	73568068	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	2181615	73568068	7627142	61	10350											
RAC3	5881	broad.mit.edu	37	chr17	79991663	79991663	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgcgcggtgctctgcccGcccccagtgaagaagccggg	6	5	14	16	5	1	2	0	1	1	1	2	2	2	2	5	2	3	1	5	2	2	0	rs556605529		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr17:79991663G>T	ENST00000306897.4	+	6	675	c.537G>T	c.(535-537)ccG>ccT	p.P179P	DCXR_ENST00000584318.1_5'Flank	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	179					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCTCTGCCCGCCCCCAGTGA	0.667																																					p.P179P													.	RAC3	8		0			c.G537T												31	29	30					17																	79991663		2198	4297	6495	SO:0001819	synonymous_variant	5881	exon6			CTGCCCGCCCCCA	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"Endogenous ligands"	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.537G>T	17.37:g.79991663G>T			91	0.032967033	3		138	0.07	10	NM_005052	71	0	0	O14658|Q5U0M8	Silent	SNP	ENST00000306897.4	37	CCDS11798.1																																																																																					0.667	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442064.1				T	79991663	G	T	79991663	2	4	140	1	0	0	0	0	0	0	0	1	12999	1074	38	1		1	RAC3	17	79991663	Silent	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	6423595	79991663	1203547	62	10351											
TCEB3B	51224	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	44560885	44560885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaggccccgcatgatttctCcctgatcaaagtaggggagt	9	9	12	11	1	2	2	1	2	1	0	3	3	2	3	3	3	0	3	3	3	2	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr18:44560885C>T	ENST00000332567.4	-	1	1103	c.751G>A	c.(751-753)Gag>Aag	p.E251K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	251					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						CATGATTTCTCCCTGATCAAA	0.572																																					p.E251K													.	.			0			c.G751A												47	49	48					18																	44560885		2203	4300	6503	SO:0001583	missense	51224	exon1			ATTTCTCCCTGAT	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.751G>A	18.37:g.44560885C>T	ENSP00000331302:p.Glu251Lys		94	0	0		150	0.11	16	NM_016427	0		0	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	7.405	0.633546	0.14322	.	.	ENSG00000206181	ENST00000332567	T	0.12774	2.65	1.72	-2.78	0.05859	.	0.000000	0.32769	U	0.005671	T	0.07279	0.0184	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15009	-1.0452	10	0.51188	T	0.08	.	4.1342	0.10162	0.0:0.2539:0.2331:0.513	.	251	Q8IYF1	ELOA2_HUMAN	K	251	ENSP00000331302:E251K	ENSP00000331302:E251K	E	-	1	0	TCEB3B	42814883	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.170000	0.16663	-0.962000	0.03604	-0.369000	0.07265	GAG			0.572	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255900.1		NM_016427		T	44560885	C	T	44560885	3	4	140	1	0	0	0	0	1	0	0	0	15705	864	30	3	1514	3	TCEB3B	18	44560885	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10		44560885	33516363	63	10352											
MED16	10025	hgsc.bcm.edu	37	chr19	879943	879943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcagctcaccttcccGtggctgtcaatccccaccag	7	7	7	20	1	2	0	2	0	0	0	4	0	4	0	7	1	2	3	7	1	1	1	rs201392672|rs76403059	byFrequency	TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr19:879943G>C	ENST00000589119.1	-	7	1346	c.1347C>G	c.(1345-1347)caC>caG	p.H449Q	MED16_ENST00000312090.6_Missense_Mutation_p.H449Q|MED16_ENST00000269814.4_Missense_Mutation_p.H449Q|MED16_ENST00000325464.1_Missense_Mutation_p.H449Q|MED16_ENST00000395808.3_Missense_Mutation_p.H449Q|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	449					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)		TCACCTTCCCGTGGCTGTCAA	0.672																																					p.H449Q													MED16,colon,carcinoma,0,1	MED16	0	1	0			c.C1347G												13	11	12					19																	879943		2152	4247	6399	SO:0001583	missense	10025	exon8			CTTCCCGTGGCTG	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.1347C>G	19.37:g.879943G>C	ENSP00000464810:p.His449Gln		111	0.018018018	2		130	0.05	6	NM_005481	7	0	0	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	3.376	-0.127462	0.06753	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	-7.89	0.01174	WD40 repeat-like-containing domain (1);	0.323237	0.32357	N	0.006220	T	0.21307	0.0513	L	0.37850	1.14	0.37741	D	0.925623	B;B;B;B;B	0.13145	0.006;0.007;0.002;0.001;0.001	B;B;B;B;B	0.14023	0.006;0.006;0.003;0.006;0.01	T	0.20009	-1.0288	10	0.15066	T	0.55	-14.2411	8.1092	0.30905	0.4704:0.1904:0.3392:0.0	.	449;449;449;449;449	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	Q	449;449;449;449;449;305;210;208;449	ENSP00000325612:H449Q;ENSP00000308528:H449Q;ENSP00000379153:H449Q;ENSP00000269814:H449Q	ENSP00000269814:H449Q	H	-	3	2	MED16	830943	0.000000	0.05858	0.886000	0.34754	0.057000	0.15508	-3.404000	0.00482	-1.779000	0.01280	-2.326000	0.00250	CAC			0.672	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457902.3		NM_005481		C	879943	G	C	879943	3	2	140	1	0	0	0	0	1	0	0	0	9450	1136	40	5	1322	5	MED16	19	879943	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10		879943	58249040	64	10353											
PCSK4	54760	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	1487795	1487795	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcaccggttctctttGctgggggtgtagcggggctg	2	12	16	11	2	2	0	1	0	1	0	3	0	2	0	2	5	3	5	2	5	1	3			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr19:1487795G>C	ENST00000300954.5	-	5	643	c.582C>G	c.(580-582)agC>agG	p.S194R	PCSK4_ENST00000587784.1_5'UTR|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)		GGTTCTCTTTGCTGGGGGTGT	0.687																																					p.S194R													.	.			0			c.C582G												11	13	12					19																	1487795		2159	4249	6408	SO:0001583	missense	54760	exon5			CTCTTTGCTGGGG	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.582C>G	19.37:g.1487795G>C	ENSP00000300954:p.Ser194Arg		27	0	0		42	0.1	4	NM_017573	1	0	0		Missense_Mutation	SNP	ENST00000300954.5	37	CCDS12069.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.003|7.003	0.555327|0.555327	0.13436|0.13436	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000441747|ENST00000300954	.|D	.|0.87650	.|-2.28	2.09|2.09	-2.61|-2.61	0.06171|0.06171	.|Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	.|0.733388	.|0.11954	.|N	.|0.513413	D|D	0.85383|0.85383	0.5684|0.5684	L|L	0.50993|0.50993	1.605|1.605	0.09310|0.09310	N|N	0.999999|0.999999	B|P	0.26708|0.50369	0.157|0.934	B|P	0.25140|0.52856	0.058|0.711	T|T	0.76578|0.76578	-0.2908|-0.2908	8|10	0.62326|0.33141	D|T	0.03|0.24	.|.	8.2533|8.2533	0.31739|0.31739	0.4594:0.0:0.5406:0.0|0.4594:0.0:0.5406:0.0	.|.	36|194	B3KQ28|Q6UW60	.|PCSK4_HUMAN	G|R	36|194	.|ENSP00000300954:S194R	ENSP00000402772:A36G|ENSP00000300954:S194R	A|S	-|-	2|3	0|2	PCSK4|PCSK4	1438795|1438795	0.000000|0.000000	0.05858|0.05858	0.574000|0.574000	0.28523|0.28523	0.315000|0.315000	0.28087|0.28087	-2.139000|-2.139000	0.01302|0.01302	-0.639000|-0.639000	0.05502|0.05502	-0.339000|-0.339000	0.08088|0.08088	GCA|AGC			0.687	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449703.1		NM_017573		C	1487795	G	C	1487795	3	2	140	1	0	0	0	0	1	0	0	0	11619	1310	46	5	1729	5	PCSK4	19	1487795	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	607852	1487795	57641188	65	10354											
ILF3	3609	bcgsc.ca;mdanderson.org	37	chr19	10798068	10798068	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaatgccagtggcggTggcggcgggggcggtggtgg	3	7	24	7	4	1	0	0	0	1	0	1	1	1	1	1	10	1	0	1	10	1	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr19:10798068T>G	ENST00000590261.1	+	17	2106	c.2106T>G	c.(2104-2106)ggT>ggG	p.G702G	ILF3_ENST00000449870.1_Silent_p.G706G|ILF3_ENST00000588657.1_Silent_p.G706G|ILF3_ENST00000318511.3_Silent_p.G702G			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	702	Interaction with PRMT1.|Poly-Gly.				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)			CCAGTGGCGGTGGCGGCGGGG	0.632																																					p.G706G													.	ILF3	99		0			c.T2118G												13	14	14					19																	10798068		1952	3853	5805	SO:0001819	synonymous_variant	3609	exon18			TGGCGGTGGCGGC	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.2106T>G	19.37:g.10798068T>G			81	0.0617283951	5		111	0.14	16	NM_017620	5	0	0	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	CCDS12246.1																																																																																					0.632	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452074.1				G	10798068	T	G	10798068	2	3	140	1	0	0	0	0	0	0	0	1	7727	1683	59	4		4	ILF3	19	10798068	Silent	SNP	T	TCGA-ZM-AA05-01A-12D-A435-10	9310273	10798068	48330915	66	10355											
TECR	9524	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr19	14675087	14675087	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcactatgcctttgcgCaacatcttcaaggtgagagc	10	10	10	11	1	2	1	1	1	1	1	2	2	2	1	1	2	4	2	1	2	3	3			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr19:14675087C>A	ENST00000215567.5	+	7	614	c.477C>A	c.(475-477)cgC>cgA	p.R159R	TECR_ENST00000596073.1_Silent_p.R4R|TECR_ENST00000436007.2_Silent_p.R174R|TECR_ENST00000600083.1_Silent_p.R4R	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	159					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|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)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						TGCCTTTGCGCAACATCTTCA	0.652																																					p.R159R													TECR,NS,carcinoma,+1,1	TECR	1	1	0			c.C477A												61	47	52					19																	14675087		2203	4299	6502	SO:0001819	synonymous_variant	9524	exon7			TTTGCGCAACATC	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"glycoprotein, synaptic 2"	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.477C>A	19.37:g.14675087C>A			36	0	0		50	0.12	6	NM_138501	217	0.15	32	B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Silent	SNP	ENST00000215567.5	37	CCDS12313.1																																																																																					0.652	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466000.1		NM_138501		A	14675087	C	A	14675087	2	1	140	1	0	0	0	0	0	0	0	1	15768	697	25	2		2	TECR	19	14675087	Silent	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	3877019	14675087	44453896	67	10356											
SPRED3	399473	hgsc.bcm.edu;mdanderson.org	37	chr19	38882866	38882866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggctcactcacccccTcctcctcctcctcctcctcc	3	9	2	27	0	2	0	2	0	0	0	9	0	9	0	11	1	0	1	11	1	0	0	rs151129136		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr19:38882866T>C	ENST00000338502.4	+	3	464	c.361T>C	c.(361-363)Tcc>Ccc	p.S121P	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_Missense_Mutation_p.S121P|SPRED3_ENST00000587013.1_Missense_Mutation_p.S165P	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	121	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTCAccccctcctcctcctc	0.642																																					p.S121P													SPRED3_ENST00000396877,bladder,carcinoma,-1,2	SPRED3_ENST00000396877	-1	2	0			c.T361C												37	46	43					19																	38882866		2055	4192	6247	SO:0001583	missense	399473	exon3			ACCCCCTCCTCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.361T>C	19.37:g.38882866T>C	ENSP00000345405:p.Ser121Pro		54	0.0185185185	1		64	0.06	4	NM_001042522	0		0	Q2MJR1	Missense_Mutation	SNP	ENST00000338502.4	37	CCDS42560.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.507507	0.27036	.	.	ENSG00000188766	ENST00000338502;ENST00000396877	D	0.81996	-1.56	3.34	3.34	0.38264	.	.	.	.	.	T	0.75982	0.3924	N	0.14661	0.345	0.32547	N	0.532858	P;P	0.48350	0.676;0.909	B;P	0.51297	0.307;0.665	T	0.78109	-0.2332	9	0.48119	T	0.1	-4.4806	8.6897	0.34260	0.0:0.0:0.0:1.0	.	121;121	Q2MJR0;Q2MJR1	SPRE3_HUMAN;.	P	121	ENSP00000345405:S121P	ENSP00000345405:S121P	S	+	1	0	SPRED3	43574706	0.997000	0.39634	0.988000	0.46212	0.536000	0.34869	2.869000	0.48444	1.487000	0.48415	0.379000	0.24179	TCC			0.642	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459216.1		XM_351191		C	38882866	T	C	38882866	3	2	140	1	0	0	0	0	1	0	0	0	15117	1551	54	4	371	4	SPRED3	19	38882866	Missense_Mutation	SNP	T	TCGA-ZM-AA05-01A-12D-A435-10	24207779	38882866	20246117	68	10357											
PAFAH1B3	5050	mdanderson.org	37	chr19	42806188	42806188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcagccacgaaccgatGgtgctgcgggagcgcgcgag	7	5	17	12	6	1	0	1	0	0	0	1	4	1	1	2	2	5	2	2	2	1	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr19:42806188G>T	ENST00000262890.3	-	2	343	c.82C>A	c.(82-84)Cat>Aat	p.H28N	PRR19_ENST00000598490.1_5'Flank|PRR19_ENST00000341747.3_5'Flank|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.H28N	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	28					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				ACGAACCGATGGTGCTGCGGG	0.637																																					p.H28N													.	.			0			c.C82A												42	39	40					19																	42806188		2196	4286	6482	SO:0001583	missense	5050	exon2			ACCGATGGTGCTG	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"PAF-AH1b alpha 1 subunit"	603074	"platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)", "platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.82C>A	19.37:g.42806188G>T	ENSP00000262890:p.His28Asn		37	0	0		55	0.05	3	NM_002573	13	0	0	Q53X88	Missense_Mutation	SNP	ENST00000262890.3	37	CCDS12602.1	.	.	.	.	.	.	.	.	.	.	G	1.184	-0.637188	0.03557	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.39406	1.08;1.08	4.52	4.52	0.55395	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.260464	0.35739	N	0.003008	T	0.09992	0.0245	N	0.00142	-2.005	0.36210	D	0.851321	B	0.02656	0.0	B	0.01281	0.0	T	0.22347	-1.0219	10	0.14252	T	0.57	-9.5927	9.9323	0.41530	0.0:0.0:0.7972:0.2028	.	28	Q15102	PA1B3_HUMAN	N	28	ENSP00000444935:H28N;ENSP00000262890:H28N	ENSP00000262890:H28N	H	-	1	0	PAFAH1B3	47498028	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	1.037000	0.30241	2.338000	0.79540	0.561000	0.74099	CAT			0.637	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463726.1		NM_002573		T	42806188	G	T	42806188	3	4	140	1	0	0	0	0	1	0	0	0	11403	1348	47	3	629	3	PAFAH1B3	19	42806188	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	3923322	42806188	16322795	69	10358											
MEGF8	1954	mdanderson.org	37	chr19	42838351	42838351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctactgtggcagccacGgcacctgcgcctcggtgagc	6	6	13	16	3	0	1	0	1	0	0	1	1	0	1	4	3	5	2	4	3	1	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr19:42838351G>T	ENST00000251268.6	+	3	544	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	MEGF8_ENST00000334370.4_Missense_Mutation_p.G182C	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	182	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)				TGGCAGCCACGGCACCTGCGC	0.697																																					p.G182C													MEGF8_ENST00000334370,NS,carcinoma,-1,2	MEGF8_ENST00000334370	-1	2	0			c.G544T												10	14	13					19																	42838351		2020	4131	6151	SO:0001583	missense	1954	exon3			AGCCACGGCACCT	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.544G>T	19.37:g.42838351G>T	ENSP00000251268:p.Gly182Cys		33	0	0		35	0.09	3	NM_001271938	0		0	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	16.75	3.209538	0.58343	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.39229	1.13;1.09	5.23	4.2	0.49525	.	.	.	.	.	T	0.42404	0.1201	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.51490	-0.8699	9	0.87932	D	0	-13.7586	11.527	0.50586	0.0879:0.0:0.9121:0.0	.	182	Q7Z7M0-2	.	C	182	ENSP00000334219:G182C;ENSP00000251268:G182C	ENSP00000251268:G182C	G	+	1	0	MEGF8	47530191	1.000000	0.71417	0.993000	0.49108	0.401000	0.30781	3.608000	0.54109	1.217000	0.43442	-0.348000	0.07805	GGC			0.697	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000463854.1		NM_001410		T	42838351	G	T	42838351	3	4	140	1	0	0	0	0	1	0	0	0	9479	1116	39	1	554	1	MEGF8	19	42838351	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	32163	42838351	16290632	70	10359											
KLK12	43849	ucsc.edu;bcgsc.ca	37	chr19	51534068	51534068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatcctgccccgggacGccgcctgcacacaccatgtt	7	6	10	18	3	0	0	0	0	0	0	1	1	1	1	6	2	2	3	6	2	0	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr19:51534068G>A	ENST00000525263.1	-	4	686	c.567C>T	c.(565-567)ggC>ggT	p.G189G	CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Missense_Mutation_p.R103C|KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250351.4_Silent_p.G189G|KLK12_ENST00000319590.4_Silent_p.G189G|KLK12_ENST00000250352.11_Silent_p.G79G|KLK11_ENST00000391804.3_5'Flank			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	189	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCCCCGGGACGCCGCCTGCAC	0.637																																					p.R103C													.	KLK12	30		0			c.C307T												124	118	120					19																	51534068		2203	4300	6503	SO:0001819	synonymous_variant	43849	exon4			CGGGACGCCGCCT		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.567C>T	19.37:g.51534068G>A			67	0	0		37	0.11	4	NM_145895	0		0	Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	g	7.615	0.675657	0.14841	.	.	ENSG00000186474	ENST00000529888	D	0.84516	-1.86	4.37	-2.36	0.06663	.	.	.	.	.	T	0.71592	0.3358	.	.	.	0.22401	N	0.999137	B	0.02656	0.0	B	0.01281	0.0	T	0.59484	-0.7446	8	0.87932	D	0	.	0.5401	0.00644	0.3365:0.1652:0.3168:0.1814	.	103	Q9UKR2	.	C	103	ENSP00000434036:R103C	ENSP00000434036:R103C	R	-	1	0	KLK12	56225880	0.000000	0.05858	0.091000	0.20842	0.021000	0.10359	-0.182000	0.09726	-0.156000	0.11079	-0.680000	0.03767	CGT			0.637	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000386288.1		NM_019598		A	51534068	G	A	51534068	2	1	140	1	0	0	0	0	0	0	0	1	8415	1087	38	1		1	KLK12	19	51534068	Silent	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	8695717	51534068	7594915	71	10360											
ZNF880	400713	broad.mit.edu;mdanderson.org	37	chr19	52888125	52888125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatctactaattcacaCtggagagaaaccttacaaat	15	10	5	11	0	2	1	1	0	1	1	2	3	2	2	2	1	4	0	2	1	5	4			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr19:52888125C>T	ENST00000422689.2	+	4	1307	c.1292C>T	c.(1291-1293)aCt>aTt	p.T431I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	431					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CTAATTCACACTGGAGAGAAA	0.408																																					p.T431I													.	ZNF880	45		0			c.C1292T												70	66	67					19																	52888125		1568	3582	5150	SO:0001583	missense	400713	exon4			TTCACACTGGAGA	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1292C>T	19.37:g.52888125C>T	ENSP00000406318:p.Thr431Ile		67	0	0		56	0.11	6	NM_001145434	1	0	0	B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339216	0.24253	.	.	ENSG00000221923	ENST00000422689	T	0.25749	1.78	1.96	0.753	0.18404	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38825	0.1055	M	0.62723	1.935	0.23896	N	0.996533	D	0.59767	0.986	P	0.59288	0.855	T	0.17228	-1.0376	8	.	.	.	.	8.7806	0.34789	0.0:0.7632:0.2368:0.0	.	431	Q6PDB4	ZN880_HUMAN	I	431	ENSP00000406318:T431I	.	T	+	2	0	ZNF880	57579937	0.015000	0.18098	0.163000	0.22734	0.138000	0.21146	0.403000	0.20982	0.100000	0.17581	0.501000	0.49751	ACT			0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397374.1		NM_001145434		T	52888125	C	T	52888125	3	4	140	1	0	0	0	0	1	0	0	0	18220	565	20	3	1306	3	ZNF880	19	52888125	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	1354057	52888125	6240858	72	10361											
NINL	22981	broad.mit.edu	37	chr20	25436407	25436407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctgtggctttcagctGtttctcatgttcttcctgcc	2	19	7	13	0	5	0	2	0	4	0	7	0	6	0	2	1	2	4	2	1	0	5			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr20:25436407G>T	ENST00000278886.6	-	23	3932	c.3859C>A	c.(3859-3861)Cag>Aag	p.Q1287K	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.Q938K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1287					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						GCTTTCAGCTGTTTCTCATGT	0.537																																					p.Q1287K													.	NINL	148		0			c.C3859A												166	180	176					20																	25436407		2203	4300	6503	SO:0001583	missense	22981	exon23			TCAGCTGTTTCTC		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.3859C>A	20.37:g.25436407G>T	ENSP00000278886:p.Gln1287Lys		118	0.0254237288	3		153	0.05	7	NM_025176	4	0.25	1	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	4.493	0.091415	0.08632	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.32023	1.47;1.47	5.02	0.595	0.17490	.	0.391934	0.24678	N	0.036493	T	0.20129	0.0484	L	0.57536	1.79	0.09310	N	1	B;B;P	0.38440	0.228;0.226;0.631	B;B;B	0.36608	0.121;0.069;0.229	T	0.09574	-1.0668	10	0.13470	T	0.59	-8.3836	2.2555	0.04054	0.1522:0.1377:0.4509:0.2592	.	938;1287;78	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	K	1287;938	ENSP00000278886:Q1287K;ENSP00000410431:Q938K	ENSP00000278886:Q1287K	Q	-	1	0	NINL	25384407	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.674000	0.25218	0.293000	0.22520	-0.218000	0.12543	CAG			0.537	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000078445.3		NM_025176		T	25436407	G	T	25436407	3	4	140	1	0	0	0	0	1	0	0	0	10437	1386	48	3	297	3	NINL	20	25436407	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10		25436407	37589113	73	10362											
SERINC3	10955	broad.mit.edu	37	chr20	43142664	43142664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcaaacatgaggcaccGctgcagaggcatggaacctg	13	4	12	12	1	0	2	0	1	0	1	0	3	0	3	2	3	4	5	2	3	2	0	rs370153515		TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr20:43142664G>T	ENST00000342374.4	-	2	214	c.57C>A	c.(55-57)agC>agA	p.S19R	SERINC3_ENST00000255175.1_Missense_Mutation_p.S19R|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	19					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATGAGGCACCGCTGCAGAGGC	0.498																																					p.S19R													.	SERINC3	42		0			c.C57A												135	113	121					20																	43142664		2203	4300	6503	SO:0001583	missense	10955	exon2			GGCACCGCTGCAG	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.57C>A	20.37:g.43142664G>T	ENSP00000340243:p.Ser19Arg		94	0	0		116	0.03	4	NM_006811	0		0	B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693170	0.68271	.	.	ENSG00000132824	ENST00000255175;ENST00000342374	T;T	0.14893	2.47;2.47	5.21	-6.96	0.01622	.	0.300348	0.45126	D	0.000396	T	0.26412	0.0645	L	0.52126	1.63	0.80722	D	1	D;D	0.55385	0.965;0.971	P;D	0.67382	0.889;0.951	T	0.25117	-1.0141	10	0.87932	D	0	-3.2596	12.5664	0.56312	0.252:0.0:0.6447:0.1034	.	19;19	Q53GK8;Q13530	.;SERC3_HUMAN	R	19	ENSP00000255175:S19R;ENSP00000340243:S19R	ENSP00000255175:S19R	S	-	3	2	SERINC3	42576078	0.661000	0.27430	0.313000	0.25210	0.985000	0.73830	-0.070000	0.11523	-1.303000	0.02332	-0.373000	0.07131	AGC			0.498	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080544.3		NM_006811		T	43142664	G	T	43142664	3	4	140	1	0	0	0	0	1	0	0	0	14104	1078	38	1	1400	1	SERINC3	20	43142664	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	17706257	43142664	19882856	74	10363											
SLC2A10	81031	broad.mit.edu	37	chr20	45354027	45354027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatttccctctcctccatgGcttgctgtatctacgtgtca	5	15	6	15	1	3	0	1	0	2	0	6	0	5	0	4	1	2	3	4	1	2	4			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr20:45354027G>A	ENST00000359271.2	+	2	602	c.352G>A	c.(352-354)Gct>Act	p.A118T		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	118					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTCCTCCATGGCTTGCTGTAT	0.657																																					p.A118T													.	SLC2A10	75		0			c.G352A												74	71	72					20																	45354027		2203	4300	6503	SO:0001583	missense	81031	exon2			TCCATGGCTTGCT	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.352G>A	20.37:g.45354027G>A	ENSP00000352216:p.Ala118Thr		52	0	0		58	0.05	3	NM_030777	0		0	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840577	0.51057	.	.	ENSG00000197496	ENST00000359271	T	0.73047	-0.71	5.01	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.368026	0.30293	N	0.009957	T	0.69495	0.3117	N	0.21583	0.68	0.47778	D	0.999517	D	0.64830	0.994	P	0.61328	0.887	T	0.63010	-0.6732	10	0.02654	T	1	-0.0052	18.6864	0.91565	0.0:0.0:1.0:0.0	.	118	O95528	GTR10_HUMAN	T	118	ENSP00000352216:A118T	ENSP00000352216:A118T	A	+	1	0	SLC2A10	44787434	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.268000	0.65536	2.494000	0.84150	0.407000	0.27541	GCT			0.657	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079578.2				A	45354027	G	A	45354027	3	1	140	1	0	0	0	0	1	0	0	0	14562	1203	42	2	358	2	SLC2A10	20	45354027	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	2211363	45354027	17671493	75	10364											
SPO11	23626	mdanderson.org	37	chr20	55904934	55904934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgccctcatggcctttgCacctatggggcccgaggcct	4	10	12	15	1	2	0	1	0	1	0	2	1	2	0	5	4	2	1	5	4	1	2			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chr20:55904934C>T	ENST00000371263.3	+	1	120	c.11C>T	c.(10-12)gCa>gTa	p.A4V	SPO11_ENST00000345868.4_Missense_Mutation_p.A4V|SPO11_ENST00000371260.4_Missense_Mutation_p.A4V	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	4					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			ATGGCCTTTGCACCTATGGGG	0.662								Editing and processing nucleases																													p.A4V													.	.			0			c.C11T												40	36	37					20																	55904934		2203	4300	6503	SO:0001583	missense	23626	exon1			CCTTTGCACCTAT	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"cancer/testis antigen 35", "spermatogenesis associated 43"	605114	"SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like", "SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)", "SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.11C>T	20.37:g.55904934C>T	ENSP00000360310:p.Ala4Val		52	0	0		55	0.05	3	NM_012444	0		0	Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712277	0.68730	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260	T;T;T	0.65549	-0.16;-0.16;-0.16	4.34	4.34	0.51931	Meiosis-specific protein Spo11 (1);	0.307405	0.27319	N	0.019919	T	0.54983	0.1892	L	0.32530	0.975	0.28306	N	0.922914	B;P	0.34955	0.29;0.477	B;B	0.41946	0.185;0.371	T	0.52177	-0.8610	10	0.28530	T	0.3	-7.1224	12.7002	0.57026	0.0:1.0:0.0:0.0	.	4;4	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	V	4	ENSP00000360310:A4V;ENSP00000316034:A4V;ENSP00000360307:A4V	ENSP00000316034:A4V	A	+	2	0	SPO11	55338341	0.182000	0.23173	0.984000	0.44739	0.949000	0.60115	1.250000	0.32850	2.129000	0.65627	0.491000	0.48974	GCA			0.662	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079836.2		NM_012444		T	55904934	C	T	55904934	3	4	140	1	0	0	0	0	1	0	0	0	15100	710	25	2	13	2	SPO11	20	55904934	Missense_Mutation	SNP	C	TCGA-ZM-AA05-01A-12D-A435-10	10550907	55904934	7120586	76	10365											
SHROOM2	357	broad.mit.edu	37	chrX	9863376	9863376	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagcggctggcagggTccccggccctgtgtgcaggg	3	6	20	12	2	0	0	0	0	0	0	1	1	1	1	3	7	2	3	3	7	0	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chrX:9863376T>G	ENST00000380913.3	+	4	1518	c.1428T>G	c.(1426-1428)ggT>ggG	p.G476G		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	476					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)				GCTGGCAGGGTCCCCGGCCCT	0.672																																					p.G476G													.	SHROOM2	139		0			c.T1428G												14	16	15					X																	9863376		2197	4290	6487	SO:0001819	synonymous_variant	357	exon4			GCAGGGTCCCCGG	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.1428T>G	X.37:g.9863376T>G			54	0.0925925926	5		69	0.17	12	NM_001649	1	0	0	B9EIQ7	Silent	SNP	ENST00000380913.3	37	CCDS14135.1																																																																																					0.672	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055721.1		NM_001649		G	9863376	T	G	9863376	2	3	140	1	0	0	0	0	0	0	0	1	14317	1654	58	4		4	SHROOM2	23	9863376	Silent	SNP	T	TCGA-ZM-AA05-01A-12D-A435-10		9863376	145407184	77	10366											
FOXP3	50943	broad.mit.edu	37	chrX	49113925	49113925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagggagaagaccccaGtggcggtggtgggtggtgtg	6	8	20	7	1	0	3	0	1	0	2	0	4	0	3	3	6	0	0	3	6	1	1			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chrX:49113925G>T	ENST00000376207.4	-	4	600	c.413C>A	c.(412-414)aCt>aAt	p.T138N	FOXP3_ENST00000376197.1_Missense_Mutation_p.T88N|FOXP3_ENST00000518685.1_Missense_Mutation_p.T103N|FOXP3_ENST00000376199.2_Missense_Mutation_p.T103N|FOXP3_ENST00000557224.1_Missense_Mutation_p.T103N|FOXP3_ENST00000455775.2_Missense_Mutation_p.T138N	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	138					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)					GAAGACCCCAGTGGCGGTGGT	0.662																																					p.T138N	GBM(182;1432 2112 16160 23073 31774)												.	FOXP3	26		0			c.C413A												58	49	52					X																	49113925		2201	4300	6501	SO:0001583	missense	50943	exon4			ACCCCAGTGGCGG		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.413C>A	X.37:g.49113925G>T	ENSP00000365380:p.Thr138Asn		128	0	0		224	0.02	5	NM_014009	0		0	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144958	0.37825	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.97994	-3.79;-3.66;-4.65;-3.66;-4.63;-4.27	5.13	4.25	0.50352	.	0.094414	0.46442	D	0.000298	D	0.95853	0.8650	N	0.24115	0.695	0.09310	N	0.999997	P;P;D;P;P	0.59357	0.895;0.951;0.985;0.895;0.937	B;P;P;B;P	0.55391	0.328;0.551;0.775;0.328;0.649	D	0.90523	0.4490	10	0.56958	D	0.05	.	9.0273	0.36239	0.111:0.0:0.889:0.0	.	138;138;103;138;103	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	N	138;103;103;103;88;138	ENSP00000365380:T138N;ENSP00000365372:T103N;ENSP00000451208:T103N;ENSP00000428952:T103N;ENSP00000365369:T88N;ENSP00000396415:T138N	ENSP00000365369:T88N	T	-	2	0	FOXP3	49000869	0.855000	0.29742	0.309000	0.25155	0.487000	0.33371	4.171000	0.58236	2.267000	0.75376	0.513000	0.50165	ACT			0.662	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060814.1		NM_014009		T	49113925	G	T	49113925	3	4	140	1	0	0	0	0	1	0	0	0	6041	1029	36	3	918	3	FOXP3	23	49113925	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	39250549	49113925	106156635	78	10367											
ARHGAP4	393	broad.mit.edu	37	chrX	153187251	153187251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagctgctcgctcagctGccagcgcatctctgtggggg	4	8	15	14	3	2	0	1	0	1	0	4	0	2	0	1	2	5	6	1	2	0	0			TCGA-ZM-AA05-01A-12D-A435-10	TCGA-ZM-AA05-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7861cef-4a7b-40e7-8a95-da3755f13c76	0d13d0e4-a10b-4704-b72f-3297e33db2fd	g.chrX:153187251G>T	ENST00000350060.5	-	2	120	c.79C>A	c.(79-81)Cag>Aag	p.Q27K	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.Q27K|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.Q27K|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.Q27K|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.Q4K	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	27	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				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)					TCGCTCAGCTGCCAGCGCATC	0.692																																					p.Q27K													.	ARHGAP4	103		0			c.C79A																																									SO:0001583	missense	393	exon2			TCAGCTGCCAGCG	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.79C>A	X.37:g.153187251G>T	ENSP00000203786:p.Gln27Lys		17	0.0588235294	1		35	0.2	7	NM_001666	7	0	0	Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033601	0.93575	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.43294	2.28;0.95;0.95;0.95;0.95;0.95;0.95	4.95	4.95	0.65309	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.42053	D	0.000776	T	0.64316	0.2587	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.67741	-0.5592	10	0.59425	D	0.04	.	16.3521	0.83215	0.0:0.0:1.0:0.0	.	27;27	Q86UY3;P98171	.;RHG04_HUMAN	K	27;27;27;27;4;4;4	ENSP00000377322:Q27K;ENSP00000359045:Q27K;ENSP00000203786:Q27K;ENSP00000359033:Q27K;ENSP00000444169:Q4K;ENSP00000398259:Q4K;ENSP00000413782:Q4K	ENSP00000203786:Q27K	Q	-	1	0	ARHGAP4	152840445	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.397000	0.79903	2.203000	0.70933	0.436000	0.28706	CAG			0.692	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061119.1		NM_001666		T	153187251	G	T	153187251	3	4	140	1	0	0	0	0	1	0	0	0	885	1328	46	2	2969	2	ARHGAP4	23	153187251	Missense_Mutation	SNP	G	TCGA-ZM-AA05-01A-12D-A435-10	104073326	153187251	2083309	79	10368											
KIF17	57576	broad.mit.edu	37	chr1	21016763	21016763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagtgatgtcttcctccagCctggcccgagactcctgctc	5	10	10	16	1	1	2	0	1	1	1	5	3	4	2	5	1	2	2	5	1	0	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr1:21016763C>A	ENST00000247986.2	-	7	1609	c.1299G>T	c.(1297-1299)agG>agT	p.R433S	KIF17_ENST00000400463.3_Missense_Mutation_p.R433S|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.R333S			Q9P2E2	KIF17_HUMAN	kinesin family member 17	433					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTTCCTCCAGCCTGGCCCGAG	0.642																																					p.R433S													.	KIF17	130		0			c.G1299T												51	48	49					1																	21016763		2203	4300	6503	SO:0001583	missense	57576	exon7			CTCCAGCCTGGCC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1299G>T	1.37:g.21016763C>A	ENSP00000247986:p.Arg433Ser		121	0.0082644628	1		133	0.05	6	NM_020816	4	0	0	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390050	0.42410	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71698	-0.59;-0.46;-0.46	4.83	3.9	0.45041	.	0.382752	0.15237	U	0.273120	T	0.67392	0.2888	L	0.58101	1.795	0.23834	N	0.996715	B;B	0.20550	0.046;0.029	B;B	0.23275	0.045;0.017	T	0.61187	-0.7113	10	0.59425	D	0.04	.	12.0715	0.53620	0.0:0.6393:0.3607:0.0	.	433;433	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	S	333;433;433	ENSP00000364184:R333S;ENSP00000383311:R433S;ENSP00000247986:R433S	ENSP00000247986:R433S	R	-	3	2	KIF17	20889350	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.288000	0.43514	1.024000	0.39682	0.485000	0.47835	AGG			0.642	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000276995.1		NM_020816		A	21016763	C	A	21016763	3	1	141	1	0	0	0	0	1	0	0	0	8294	738	26	2	1826	2	KIF17	1	21016763	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10		21016763	228233858	1	10369											
SPOCD1	90853	broad.mit.edu	37	chr1	32259795	32259795	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtcctctgatgcgatGggcagggcctgtgggctgca	4	10	18	9	1	1	1	0	1	1	0	2	2	2	1	2	4	2	3	2	4	0	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr1:32259795G>T	ENST00000360482.2	-	11	2442	c.2313C>A	c.(2311-2313)ccC>ccA	p.P771P	RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.P771P|SPOCD1_ENST00000257100.3_Silent_p.P264P	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	771					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGATGCGATGGGCAGGGCCT	0.652																																					p.P771P													SPOCD1,NS,carcinoma,-1,1	SPOCD1	109	1	0			c.C2313A												78	61	66					1																	32259795		2203	4300	6503	SO:0001819	synonymous_variant	90853	exon11			TGCGATGGGCAGG	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2313C>A	1.37:g.32259795G>T			166	0	0		251	0.02	5	NM_144569	4	0	0	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	4.324	0.059553	0.08339	.	.	ENSG00000134668	ENST00000528579	.	.	.	5.07	-9.44	0.00603	.	.	.	.	.	T	0.23572	0.0570	.	.	.	0.21105	N	0.999782	.	.	.	.	.	.	T	0.25710	-1.0124	5	0.18710	T	0.47	-10.2362	9.8027	0.40775	0.2181:0.2335:0.5484:0.0	.	.	.	.	Q	145	.	ENSP00000437197:P145Q	P	-	2	0	SPOCD1	32032382	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	-0.996000	0.03709	-1.688000	0.01435	-0.259000	0.10710	CCA			0.652	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000381912.1		NM_144569		T	32259795	G	T	32259795	2	4	141	1	0	0	0	0	0	0	0	1	15101	1335	47	3		3	SPOCD1	1	32259795	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	11243032	32259795	216990826	2	10370											
SERBP1	26135	broad.mit.edu	37	chr1	67895862	67895862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccaacgccgcccccgccgGcttcttttttcttgttctct	2	14	6	19	4	3	0	0	0	3	0	4	0	3	0	6	1	1	2	6	1	1	6			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr1:67895862G>T	ENST00000370995.2	-	1	207	c.122C>A	c.(121-123)gCc>gAc	p.A41D	SERBP1_ENST00000370994.4_Missense_Mutation_p.A41D|SERBP1_ENST00000370990.5_Missense_Mutation_p.A41D|SERBP1_ENST00000361219.6_Missense_Mutation_p.A41D			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	41					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GCCCCCGCCGGCTTCTTTTTT	0.637																																					p.A41D													.	SERBP1	31		0			c.C122A												30	38	35					1																	67895862		2112	4248	6360	SO:0001583	missense	26135	exon1			CCGCCGGCTTCTT	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.122C>A	1.37:g.67895862G>T	ENSP00000360034:p.Ala41Asp		119	0.025210084	3		139	0.04	6	NM_015640	57	0	0	Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402790	0.62288	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	4.04	4.04	0.47022	.	0.120909	0.53938	D	0.000057	T	0.48926	0.1527	L	0.51422	1.61	0.49915	D	0.999832	B;D;P;P	0.67145	0.435;0.996;0.617;0.807	B;P;B;B	0.57324	0.159;0.818;0.242;0.344	T	0.39461	-0.9613	9	0.14252	T	0.57	-3.5289	10.7377	0.46135	0.0:0.3098:0.6902:0.0	.	104;104;41;41	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	D	41	.	ENSP00000354591:A41D	A	-	2	0	SERBP1	67668450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.730000	0.47335	2.540000	0.85666	0.563000	0.77884	GCC			0.637	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000025984.2		NM_001018067		T	67895862	G	T	67895862	3	4	141	1	0	0	0	0	1	0	0	0	14098	1203	42	2	1136	2	SERBP1	1	67895862	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	35636067	67895862	181354759	3	10371											
ABCD3	5825	broad.mit.edu	37	chr1	94964163	94964163	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttttcaggttcgAtctggggctaatgttctaat	6	22	8	5	1	3	0	1	0	2	0	4	1	3	0	0	3	0	3	0	3	2	10			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr1:94964163A>T	ENST00000370214.4	+	17	1416	c.1392A>T	c.(1390-1392)cgA>cgT	p.R464R	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Silent_p.R488R|ABCD3_ENST00000394233.2_Silent_p.R354R|ABCD3_ENST00000536817.1_Silent_p.R391R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	464	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|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)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTCAGGTTCGATCTGGGGCTA	0.333																																					p.R464R													.	ABCD3	62		0			c.A1392T												94	92	92					1																	94964163		2203	4300	6503	SO:0001819	synonymous_variant	5825	exon17			GGTTCGATCTGGG	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1392A>T	1.37:g.94964163A>T			140	0.05	7		174	0.08	14	NM_002858	0		0	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	CCDS749.1																																																																																					0.333	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000029597.1		NM_002858		T	94964163	A	T	94964163	2	4	141	1	0	0	0	0	0	0	0	1	62	320	12	5		5	ABCD3	1	94964163	Silent	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10	27068301	94964163	154286458	4	10372											
ADAR	103	broad.mit.edu	37	chr1	154574388	154574388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgagactgcaataaaagGctcaagaagatcttctgaga	16	8	10	7	0	3	4	1	2	2	4	3	6	3	4	0	1	2	3	0	1	5	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr1:154574388G>T	ENST00000368474.4	-	2	929	c.730C>A	c.(730-732)Cct>Act	p.P244T	ADAR_ENST00000292205.5_Missense_Mutation_p.P287T|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'Flank	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	244					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)		GCAATAAAAGGCTCAAGAAGA	0.517																																					p.P244T													.	ADAR	113		0			c.C730A												105	108	107					1																	154574388		2203	4300	6503	SO:0001583	missense	103	exon2			TAAAAGGCTCAAG	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.730C>A	1.37:g.154574388G>T	ENSP00000357459:p.Pro244Thr		152	0	0		172	0.03	6	NM_001111	11	0	0	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842220	0.32513	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.12672	2.66;2.72;2.69	0.676	0.676	0.17958	.	3.391780	0.02987	U	0.146348	T	0.08582	0.0213	L	0.43923	1.385	0.09310	N	1	P;P;P	0.48350	0.75;0.75;0.909	B;B;P	0.50440	0.222;0.222;0.641	T	0.23797	-1.0178	9	0.41790	T	0.15	.	.	.	.	.	244;244;244	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	T	287;244;239	ENSP00000292205:P287T;ENSP00000357459:P244T;ENSP00000431794:P239T	ENSP00000292205:P287T	P	-	1	0	ADAR	152841012	0.533000	0.26354	0.020000	0.16555	0.090000	0.18270	-0.063000	0.11655	0.619000	0.30197	0.313000	0.20887	CCT			0.517	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000090691.2		NM_001111		T	154574388	G	T	154574388	3	4	141	1	0	0	0	0	1	0	0	0	281	1203	42	2	3006	2	ADAR	1	154574388	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	59610225	154574388	94676233	5	10373											
RGPD2	729857	broad.mit.edu	37	chr2	88125234	88125234	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtaccgctccccgtaggcTttgctgcgcctcatcgcacc	5	9	10	17	4	1	0	1	0	0	0	3	0	2	0	5	2	3	6	5	2	2	3	rs550032815	byFrequency	TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr2:88125234T>C	ENST00000398146.3	-	1	237	c.15A>G	c.(13-15)aaA>aaG	p.K5K	RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	5					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CCCCGTAGGCTTTGCTGCGCC	0.667													.|||	4	0.000798722	0	0	5008	,	,		10105	0		0.002	False		,,,				2504	0.002				p.K5K													.	RGPD2	14		0			c.A15G												36	56	50					2																	88125234		692	1591	2283	SO:0001819	synonymous_variant	729857	exon1			GTAGGCTTTGCTG		CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.15A>G	2.37:g.88125234T>C			56	0.0178571429	1		79	0.13	10	NM_001078170	0		0	P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000398146.3	37	CCDS42710.2																																																																																					0.667	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330534.2		NM_001078170		C	88125234	T	C	88125234	2	2	141	1	0	0	0	0	0	0	0	1	13309	1606	56	4		4	RGPD2	2	88125234	Silent	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10		88125234	155074139	6	10374											
RBMS1	5937	hgsc.bcm.edu;mdanderson.org	37	chr2	161223862	161223862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tattactgctggtggtgctgGgactgggaggggccatgggg	5	10	20	6	0	0	0	0	0	0	0	0	2	0	2	1	8	3	2	1	8	2	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr2:161223862G>T	ENST00000348849.3	-	2	546	c.116C>A	c.(115-117)cCc>cAc	p.P39H	RBMS1_ENST00000392753.3_Missense_Mutation_p.P39H|RBMS1_ENST00000409075.1_Missense_Mutation_p.P6H|RBMS1_ENST00000409972.1_Missense_Mutation_p.P6H|RBMS1_ENST00000409289.2_Missense_Mutation_p.P6H|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	39					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								ggtggtgctgGGACTGGGAGG	0.527																																					p.P39H													.	.			0			c.C116A												74	72	73					2																	161223862		2203	4300	6503	SO:0001583	missense	5937	exon2			GTGCTGGGACTGG	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"RNA binding motif (RRM) containing"	9907	protein-coding gene	gene with protein product	"suppressor of cdc 2 (cdc13) with RNA binding motif 2", "c-myc gene single strand binding protein 2"	602310	"chromosome 2 open reading frame 12"	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.116C>A	2.37:g.161223862G>T	ENSP00000294904:p.Pro39His		63	0	0		64	0.06	4	NM_016836	1	0	0	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876706	0.91664	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972;ENST00000428519	T;T;T;T;T;T	0.36699	1.24;1.89;1.89;1.24;1.89;3.08	5.62	5.62	0.85841	.	0.102468	0.64402	D	0.000002	T	0.62122	0.2402	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.998;0.997;0.999;0.997;0.99;0.998	T	0.56463	-0.7975	10	0.33141	T	0.24	.	19.6217	0.95660	0.0:0.0:1.0:0.0	.	6;39;39;6;6;39	D3DPB2;P29558;P29558-2;E7EPF2;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	H	39;6;6;39;6;6	ENSP00000294904:P39H;ENSP00000386347:P6H;ENSP00000386571:P6H;ENSP00000376508:P39H;ENSP00000387280:P6H;ENSP00000389016:P6H	ENSP00000294904:P39H	P	-	2	0	RBMS1	160932108	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.795000	0.96236	0.655000	0.94253	CCC			0.527	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255043.4		NM_016836		T	161223862	G	T	161223862	3	4	141	1	0	0	0	0	1	0	0	0	13171	1232	43	3	1152	3	RBMS1	2	161223862	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	73098628	161223862	81975511	7	10375											
RAPH1	65059	broad.mit.edu	37	chr2	204322299	204322299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccatctcagctgtttctTttttccccaaaagataattc	9	16	4	12	0	2	1	1	0	2	1	5	1	3	1	3	0	2	2	3	0	3	6			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr2:204322299T>C	ENST00000319170.5	-	8	1411	c.1112A>G	c.(1111-1113)aAa>aGa	p.K371R	RAPH1_ENST00000374493.3_Missense_Mutation_p.K423R|RAPH1_ENST00000457812.1_Missense_Mutation_p.K371R|RAPH1_ENST00000418114.1_Missense_Mutation_p.K371R|RAPH1_ENST00000374489.2_Missense_Mutation_p.K398R|RAPH1_ENST00000423104.1_Missense_Mutation_p.K398R|RAPH1_ENST00000453034.1_Missense_Mutation_p.K423R|RAPH1_ENST00000308091.4_Missense_Mutation_p.K423R|RAPH1_ENST00000374488.2_Missense_Mutation_p.K396R|RAPH1_ENST00000439222.1_Missense_Mutation_p.K396R|RAPH1_ENST00000419464.1_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																																					p.K423R													.	RAPH1	118		0			c.A1268G												157	168	164					2																	204322299		2203	4300	6503	SO:0001583	missense	65059	exon10			GTTTCTTTTTTCC	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		61	0.0327868852	2		87	0.03	3	NM_203365	0		0	Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	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		C	204322299	T	C	204322299	3	2	141	1	0	0	0	0	1	0	0	0	13073	1841	64	4	2675	4	RAPH1	2	204322299	Missense_Mutation	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10	43098437	204322299	38877074	8	10376											
MAP4	4134	broad.mit.edu;mdanderson.org	37	chr3	47963340	47963340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaagaccaaatctgccagGtcatcatcatggtacatctt	13	10	8	10	0	5	1	3	0	2	1	5	2	5	2	2	3	2	1	2	3	3	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr3:47963340G>T	ENST00000360240.6	-	5	962	c.444C>A	c.(442-444)gaC>gaA	p.D148E	MAP4_ENST00000395734.3_Missense_Mutation_p.D148E|MAP4_ENST00000426837.2_Missense_Mutation_p.D165E|MAP4_ENST00000383737.4_Missense_Mutation_p.D148E	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	148					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AATCTGCCAGGTCATCATCAT	0.383																																					p.D148E													.	MAP4	176		0			c.C444A												126	116	120					3																	47963340		2203	4300	6503	SO:0001583	missense	4134	exon5			TGCCAGGTCATCA		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.444C>A	3.37:g.47963340G>T	ENSP00000353375:p.Asp148Glu		99	0	0		63	0.06	4	NM_001134364	9	0	0	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634761	0.29068	.	.	ENSG00000047849	ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.48	1.95	0.26073	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B;B;B	0.27823	0.19;0.152;0.116	B;B;B	0.27500	0.067;0.08;0.055	T	0.25950	-1.0117	9	0.32370	T	0.25	-0.4046	5.9071	0.19006	0.3211:0.0:0.6789:0.0	.	125;148;148	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	E	148;148;165;148	ENSP00000373243:D148E;ENSP00000379083:D148E;ENSP00000407602:D165E;ENSP00000353375:D148E	ENSP00000353375:D148E	D	-	3	2	MAP4	47938344	0.049000	0.20398	0.027000	0.17364	0.544000	0.35116	1.166000	0.31834	0.304000	0.22809	0.655000	0.94253	GAC			0.383	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000346085.1		NM_002375		T	47963340	G	T	47963340	3	4	141	1	0	0	0	0	1	0	0	0	9274	1252	44	3	4433	3	MAP4	3	47963340	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		47963340	150059090	9	10377											
NT5DC2	64943	mdanderson.org	37	chr3	52558632	52558632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgagcaggcagctgaGggaggccatgtagaggtcag	10	7	18	6	0	1	3	1	2	0	1	1	4	1	4	1	4	2	6	1	4	2	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr3:52558632G>T	ENST00000307076.4	-	14	1817	c.1417C>A	c.(1417-1419)Ctc>Atc	p.L473I	NT5DC2_ENST00000459839.1_Missense_Mutation_p.L485I|NT5DC2_ENST00000422318.2_Missense_Mutation_p.L510I|NT5DC2_ENST00000307092.4_Missense_Mutation_p.L414I	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	473							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AGGCAGCTGAGGGAGGCCATG	0.622																																					p.L510I													.	.			0			c.C1528A												86	73	77					3																	52558632		2203	4300	6503	SO:0001583	missense	64943	exon14			AGCTGAGGGAGGC	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1417C>A	3.37:g.52558632G>T	ENSP00000302468:p.Leu473Ile		45	0	0		51	0.06	3	NM_001134231	829	0	1	C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.385969	0.25031	.	.	ENSG00000168268	ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.74	3.85	0.44370	HAD-like domain (1);	0.179222	0.47093	D	0.000248	T	0.08088	0.0202	N	0.05158	-0.105	0.33780	D	0.624143	B;B;B	0.16603	0.018;0.008;0.008	B;B;B	0.25405	0.06;0.02;0.029	T	0.26573	-1.0099	10	0.02654	T	1	-38.5811	7.3015	0.26424	0.0839:0.0:0.5962:0.3199	.	485;473;510	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	I	414;473;510;485	ENSP00000306017:L414I;ENSP00000302468:L473I;ENSP00000406933:L510I;ENSP00000419547:L485I	ENSP00000302468:L473I	L	-	1	0	NT5DC2	52533672	0.988000	0.35896	0.982000	0.44146	0.977000	0.68977	1.908000	0.39907	1.434000	0.47414	0.650000	0.86243	CTC			0.622	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000351509.1		NM_022908		T	52558632	G	T	52558632	3	4	141	1	0	0	0	0	1	0	0	0	10708	1000	35	3	149	3	NT5DC2	3	52558632	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	4595292	52558632	145463798	10	10378											
CHCHD6	84303	broad.mit.edu;bcgsc.ca	37	chr3	126571534	126571534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagctaagacgccgtgaCaccttctacaaggagcagct	12	6	11	12	2	1	3	0	1	1	2	1	4	1	4	2	1	4	4	2	1	3	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr3:126571534C>T	ENST00000290913.3	+	5	549	c.456C>T	c.(454-456)gaC>gaT	p.D152D	CHCHD6_ENST00000508789.1_Silent_p.D153D	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	152					cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						GACGCCGTGACACCTTCTACA	0.567																																					p.D152D													.	CHCHD6	18		0			c.C456T												144	113	123					3																	126571534		2203	4300	6503	SO:0001819	synonymous_variant	84303	exon5			CCGTGACACCTTC	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28184	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 23", "coiled-coil-helix cristae morphology 1"	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.456C>T	3.37:g.126571534C>T			94	0.0212765957	2		92	0.3	28	NM_032343	14	0.71	10	D6R9U0|D6RIB4|H8Y0Y7	Silent	SNP	ENST00000290913.3	37	CCDS3041.1	.	.	.	.	.	.	.	.	.	.	C	5.617	0.298497	0.10622	.	.	ENSG00000159685	ENST00000513253	.	.	.	4.8	-0.305	0.12784	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.21553	N	0.999641	.	.	.	.	.	.	T	0.22591	-1.0212	4	.	.	.	-21.7831	0.281	0.00245	0.2601:0.243:0.255:0.2419	.	.	.	.	I	86	.	.	T	+	2	0	CHCHD6	128054224	0.012000	0.17670	0.011000	0.14972	0.832000	0.47134	-0.735000	0.04888	-0.263000	0.09378	-0.218000	0.12543	ACA			0.567	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356432.1		NM_032343		T	126571534	C	T	126571534	2	4	141	1	0	0	0	0	0	0	0	1	3322	477	17	3		3	CHCHD6	3	126571534	Silent	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	74012902	126571534	71450896	11	10379											
ATR	545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	142186852	142186852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctctaaggattttttcAtatgaatagctttattgagg	11	18	7	5	0	2	2	1	2	1	0	3	3	2	3	0	2	1	1	0	2	5	10			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr3:142186852A>G	ENST00000350721.4	-	39	6732	c.6611T>C	c.(6610-6612)aTg>aCg	p.M2204T	ATR_ENST00000383101.3_Missense_Mutation_p.M2140T|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2204					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						GGATTTTTTCATATGAATAGC	0.333								Other conserved DNA damage response genes																													p.M2204T													.	.			0			c.T6611C												122	131	128					3																	142186852		2203	4298	6501	SO:0001583	missense	545	exon39			TTTTTCATATGAA	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.6611T>C	3.37:g.142186852A>G	ENSP00000343741:p.Met2204Thr		45	0	0		48	0.44	21	NM_001184	2	1	2	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396575	0.25205	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.04360	3.64;4.07	5.54	5.54	0.83059	.	0.089509	0.85682	D	0.000000	T	0.06962	0.0177	L	0.57536	1.79	0.58432	D	0.999997	B	0.27971	0.196	B	0.25291	0.059	T	0.28554	-1.0040	10	0.12103	T	0.63	-14.9375	15.962	0.79939	1.0:0.0:0.0:0.0	.	2204	Q13535	ATR_HUMAN	T	2204;2140	ENSP00000343741:M2204T;ENSP00000372581:M2140T	ENSP00000343741:M2204T	M	-	2	0	ATR	143669542	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	9.040000	0.93783	2.229000	0.72834	0.482000	0.46254	ATG			0.333	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353995.2		NM_001184		G	142186852	A	G	142186852	3	3	141	1	0	0	0	0	1	0	0	0	1204	217	8	4	1359	4	ATR	3	142186852	Missense_Mutation	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10	15615318	142186852	55835578	12	10380											
TP63	8626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	189597936	189597936	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgacgtcttctttagacattCcaagcccccaaaccgatcag	11	10	6	14	2	3	2	1	1	2	1	4	3	4	2	4	0	2	0	4	0	3	4			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr3:189597936C>G	ENST00000264731.3	+	11	1438				TP63_ENST00000456148.1_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.S478C|TP63_ENST00000354600.5_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.S384C|TP63_ENST00000392461.3_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|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)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTTAGACATTCCAAGCCCCCA	0.458										HNSCC(45;0.13)																											p.S478C													.	.			0			c.C1433G												117	107	110					3																	189597936		1568	3582	5150	SO:0001627	intron_variant	8626	exon11			GACATTCCAAGCC	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1350-6247C>G	3.37:g.189597936C>G			129	0	0		129	0.26	33	NM_001114979	0		0	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141356	0.57044	.	.	ENSG00000073282	ENST00000418709;ENST00000437221	D;D	0.99685	-6.38;-6.4	5.79	5.79	0.91817	.	.	.	.	.	D	0.99697	0.9885	.	.	.	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76071	0.938;0.987	D	0.98221	1.0478	7	.	.	.	.	19.0252	0.92930	0.0:1.0:0.0:0.0	.	384;478	Q9H3D4-6;Q9H3D4-5	.;.	C	478;384	ENSP00000407144:S478C;ENSP00000392488:S384C	.	S	+	2	0	TP63	191080630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.485000	0.66850	2.734000	0.93682	0.655000	0.94253	TCC			0.458	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000343865.1		NM_003722		G	189597936	C	G	189597936	1	3	141	0	1	0	0	0	0	0	0	0	16416	855	30	5		5	TP63	3	189597936	Intron	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	47411084	189597936	8424494	13	10381											
ZDHHC11	79844	mdanderson.org	37	chr5	840644	840644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagatgagcagctggcccagGtgcaccaagccaagaaagtc	14	4	12	11	0	0	3	0	1	0	2	1	3	0	3	3	2	4	3	3	2	4	0	rs200038670		TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr5:840644G>C	ENST00000283441.8	-	5	1133	c.750C>G	c.(748-750)caC>caG	p.H250Q	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.H250Q|ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.H37Q	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	250						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.H250Q(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCTGGCCCAGGTGCACCAAGC	0.602																																					p.H250Q													.	.			2	Substitution - Missense(2)	lung(2)	c.C750G												137	146	143					5																	840644		2203	4300	6503	SO:0001583	missense	79844	exon5			GCCCAGGTGCACC	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.750C>G	5.37:g.840644G>C	ENSP00000283441:p.His250Gln		28	0.0357142857	1		26	0.08	2	NM_024786	15	0.2	3	Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	g	5.277	0.236438	0.10023	.	.	ENSG00000188818	ENST00000424784;ENST00000283441;ENST00000511193;ENST00000511539	T;T;T;T	0.43688	1.86;1.86;0.99;0.94	2.74	-0.394	0.12434	.	642.914000	0.00961	U	0.003101	T	0.25494	0.0620	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.15870	0.014;0.001	T	0.27606	-1.0069	10	0.29301	T	0.29	-6.9343	13.336	0.60518	0.0:0.2548:0.7452:0.0	.	250;37	Q9H8X9;Q6UWR9	ZDH11_HUMAN;.	Q	250;250;25;37	ENSP00000397719:H250Q;ENSP00000283441:H250Q;ENSP00000426873:H25Q;ENSP00000427067:H37Q	ENSP00000283441:H250Q	H	-	3	2	ZDHHC11	893644	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.474000	0.06607	-0.110000	0.12022	-2.048000	0.00412	CAC	0.001		0.602	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206681.3		NM_024786		C	840644	G	C	840644	3	2	141	1	0	0	0	0	1	0	0	0	17624	1252	44	5	520	5	ZDHHC11	5	840644	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		840644	180074616	14	10382											
IRX2	153572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	2749803	2749803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtggcgttcttgcggtaCgcggggtcgttgagctggta	3	11	18	9	7	1	1	0	1	1	0	2	1	1	1	0	5	3	5	0	5	2	5			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr5:2749803C>T	ENST00000382611.6	-	2	596	c.348G>A	c.(346-348)gcG>gcA	p.A116A	C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.A116A|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	116					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)		TCTTGCGGTACGCGGGGTCGT	0.677																																					p.A116A													IRX2,NS,carcinoma,0,1	IRX2	0	1	0			c.G348A												115	93	100					5																	2749803		2203	4300	6503	SO:0001819	synonymous_variant	153572	exon2			GCGGTACGCGGGG	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.348G>A	5.37:g.2749803C>T			57	0	0		52	0.31	16	NM_001134222	1	0	0	Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	CCDS3868.1																																																																																					0.677	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206749.2				T	2749803	C	T	2749803	2	4	141	1	0	0	0	0	0	0	0	1	7859	523	19	1		1	IRX2	5	2749803	Silent	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	1909159	2749803	178165457	15	10383											
DMGDH	29958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	78347182	78347182	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatgttccatctgaccTggctttcagagaagttactg	8	13	9	11	0	2	2	1	1	1	1	4	3	4	2	3	1	1	3	3	1	2	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr5:78347182T>G	ENST00000255189.3	-	5	701	c.673A>C	c.(673-675)Agg>Cgg	p.R225R	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	225					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)		CCATCTGACCTGGCTTTCAGA	0.423																																					p.R225R													.	.			0			c.A673C												174	173	173					5																	78347182		2203	4300	6503	SO:0001819	synonymous_variant	29958	exon5			CTGACCTGGCTTT	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.673A>C	5.37:g.78347182T>G			105	0	0		112	0.32	36	NM_013391	0		0	B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	CCDS4044.1																																																																																					0.423	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226963.3		NM_013391		G	78347182	T	G	78347182	2	3	141	1	0	0	0	0	0	0	0	1	4586	1579	55	4		4	DMGDH	5	78347182	Silent	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10	75597379	78347182	102568078	16	10384											
NDST1	3340	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr5	149915275	149915277	+	In_Frame_Del	DEL	CCA	CCA	-																															tccctaggagcatggcattcCcacagacatggggtatgcag																										TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	CCA	CCA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr5:149915275_149915277delCCA	ENST00000261797.6	+	6	1767_1769	c.1265_1267delCCA	c.(1264-1269)cccaca>cca	p.T423del	NDST1_ENST00000523767.1_In_Frame_Del_p.T423del	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	423	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGGCATTCCCACAGACATGGG	0.606																																					p.422_422del													.	NDST1	79		0			c.1264_1266del																																									SO:0001651	inframe_deletion	3340	exon6			GCATTCCCACAGA	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1265_1267delCCA	5.37:g.149915275_149915277delCCA	ENSP00000261797:p.Thr423del		106	0	0		97	0.29	28	NM_001543	3	0	0	Q96E57	In_Frame_Del	DEL	ENST00000261797.6	37	CCDS34277.1																																																																																					0.606	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374314.2		NM_001543		-	149915277	CCA	-	149915275	7	5	141	1	0	1	0	1	0	0	0	0	10272	623	22	0	1283	0	NDST1	5	149915275	In_Frame_Del	DEL	CCA	TCGA-ZM-AA06-01A-12D-A435-10	71568093	149915275	30999985	17	10385											
F13A1	2162	mdanderson.org	37	chr6	6248642	6248642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaggcaagtgtccaggatgCcatcttcaaactatttggag	12	10	10	9	0	2	0	1	0	1	0	3	2	3	2	2	3	2	1	2	3	3	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr6:6248642C>T	ENST00000264870.3	-	6	966	c.701G>A	c.(700-702)gGc>gAc	p.G234D		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	234					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTCCAGGATGCCATCTTCAAA	0.423																																					p.G234D													.	.			0			c.G701A												70	62	65					6																	6248642		2203	4300	6503	SO:0001583	missense	2162	exon6			AGGATGCCATCTT	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.701G>A	6.37:g.6248642C>T	ENSP00000264870:p.Gly234Asp		32	0	0		36	0.08	3	NM_000129	0		0	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606530	0.46527	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.93133	-3.17	4.99	4.12	0.48240	.	0.249361	0.40144	N	0.001162	T	0.80449	0.4625	L	0.40543	1.245	0.42406	D	0.992583	B;P	0.36392	0.122;0.551	B;B	0.29267	0.094;0.1	T	0.79688	-0.1699	10	0.44086	T	0.13	.	6.5527	0.22444	0.0:0.7106:0.0:0.2894	.	171;234	F5H080;P00488	.;F13A_HUMAN	D	234;171	ENSP00000264870:G234D	ENSP00000264870:G234D	G	-	2	0	F13A1	6193641	0.973000	0.33851	1.000000	0.80357	0.993000	0.82548	3.217000	0.51184	1.087000	0.41251	0.563000	0.77884	GGC			0.423	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039756.3		NM_000129		T	6248642	C	T	6248642	3	4	141	1	0	0	0	0	1	0	0	0	5347	739	26	2	1537	2	F13A1	6	6248642	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10		6248642	164866425	18	10386											
DPCR1	135656	mdanderson.org	37	chr6	30920763	30920763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtctcctatatgatgCggacacgccgcacactaacc	11	7	8	15	3	1	1	0	1	1	0	2	2	1	2	3	2	2	1	3	2	3	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr6:30920763C>T	ENST00000462446.1	+	3	4079	c.4051C>T	c.(4051-4053)Cgg>Tgg	p.R1351W	DPCR1_ENST00000304311.2_Missense_Mutation_p.R193W|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	475						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CTATATGATGCGGACACGCCG	0.498																																					p.R1351W													.	.			0			c.C4051T												118	90	99					6																	30920763		2203	4300	6503	SO:0001583	missense	135656	exon3			ATGATGCGGACAC	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.4051C>T	6.37:g.30920763C>T	ENSP00000417182:p.Arg1351Trp		80	0.0125	1		81	0.05	4	NM_080870	0		0	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345940	0.82022	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.38240	1.27;1.15	3.82	0.601	0.17529	.	.	.	.	.	T	0.31482	0.0798	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.05484	-1.0882	9	0.87932	D	0	-2.0425	5.8829	0.18866	0.4178:0.4:0.1823:0.0	.	1351	E9PEI6	.	W	1351;475;193	ENSP00000417182:R1351W;ENSP00000305948:R193W	ENSP00000305948:R193W	R	+	1	2	DPCR1	31028742	0.000000	0.05858	0.002000	0.10522	0.845000	0.48019	-0.320000	0.08028	0.340000	0.23745	0.574000	0.79327	CGG			0.498	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000076173.3		NM_080870		T	30920763	C	T	30920763	3	4	141	1	0	0	0	0	1	0	0	0	4717	759	27	1	4061	1	DPCR1	6	30920763	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	24672121	30920763	140194304	19	10387											
GPR6	2830	broad.mit.edu	37	chr6	110300642	110300642	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcacgcccatgttcgtGctggtaggcagcctggccac	5	8	13	15	3	0	0	0	0	0	0	1	0	0	0	3	3	3	5	3	3	1	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr6:110300642G>T	ENST00000275169.3	+	1	345	c.327G>T	c.(325-327)gtG>gtT	p.V109V	GPR6_ENST00000414000.2_Silent_p.V124V	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	109					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCATGTTCGTGCTGGTAGGCA	0.637																																					p.V109V													GPR6,caecum,carcinoma,+2,1	GPR6	46	1	0			c.G327T												95	84	88					6																	110300642		2203	4300	6503	SO:0001819	synonymous_variant	0	exon1			GTTCGTGCTGGTA		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.327G>T	6.37:g.110300642G>T			45	0	0		54	0.11	6	NM_005284	0		0	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	ENST00000275169.3	37	CCDS5079.1																																																																																					0.637	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041774.1				T	110300642	G	T	110300642	2	4	141	1	0	0	0	0	0	0	0	1	6715	1306	46	2		2	GPR6	6	110300642	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	79379879	110300642	60814425	20	10388											
MUC17	140453	hgsc.bcm.edu	37	chr7	100679221	100679221	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcatagcaatctcaacGcctagtgaaggaagcactgc	14	6	9	12	1	1	1	1	1	1	0	2	2	1	2	2	1	5	3	2	1	6	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr7:100679221G>T	ENST00000306151.4	+	3	4588	c.4524G>T	c.(4522-4524)acG>acT	p.T1508T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1508	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)					CAATCTCAACGCCTAGTGAAG	0.468																																					p.T1508T													.	.			0			c.G4524T												209	197	201					7																	100679221		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CTCAACGCCTAGT	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.4524G>T	7.37:g.100679221G>T			90	0	0		73	0.08	6	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																					0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		T	100679221	G	T	100679221	2	4	141	1	0	0	0	0	0	0	0	1	9990	1074	38	1		1	MUC17	7	100679221	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		100679221	58459442	21	10389											
MDFIC	29969	mdanderson.org	37	chr7	114563096	114563096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggagcggcccatgtccgGcgcgggcgaagccctcgctc	4	4	17	16	7	0	0	0	0	0	0	3	2	1	1	3	5	2	1	3	5	1	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr7:114563096G>T	ENST00000393486.1	+	2	598	c.8G>T	c.(7-9)gGc>gTc	p.G3V	MDFIC_ENST00000448022.1_Missense_Mutation_p.G3V|MDFIC_ENST00000423503.1_Missense_Mutation_p.G3V|MDFIC_ENST00000257724.3_Missense_Mutation_p.G112V	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CCCATGTCCGGCGCGGGCGAA	0.801																																					p.G112V													.	.			0			c.G335T												1	2	2					7																	114563096		515	1027	1542	SO:0001583	missense	29969	exon2			TGTCCGGCGCGGG	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.8G>T	7.37:g.114563096G>T	ENSP00000377126:p.Gly3Val		22	0	0		12	0.17	2	NM_001166346	0		0		Missense_Mutation	SNP	ENST00000393486.1	37	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616366	0.46736	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000448022;ENST00000423503	.	.	.	4.52	0.178	0.15058	.	1.076730	0.07219	N	0.860538	T	0.18467	0.0443	N	0.22421	0.69	0.23611	N	0.997299	P	0.44044	0.825	B	0.39935	0.314	T	0.16453	-1.0402	9	0.56958	D	0.05	-0.1713	2.7479	0.05272	0.3538:0.0:0.4407:0.2055	.	3	Q9P1T7	MDFIC_HUMAN	V	112;3;3;3	.	ENSP00000257724:G112V	G	+	2	0	MDFIC	114350332	0.272000	0.24172	0.547000	0.28179	0.558000	0.35554	0.383000	0.20651	0.130000	0.18549	0.557000	0.71058	GGC			0.801	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059968.4		NM_199072		T	114563096	G	T	114563096	3	4	141	1	0	0	0	0	1	0	0	0	9421	1203	42	2	341	2	MDFIC	7	114563096	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	13883875	114563096	44575567	22	10390											
EPHB6	2051	bcgsc.ca;mdanderson.org	37	chr7	142562074	142562074	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcttcttcctctgcagcgtg	1	15	4	21	1	3	0	0	0	3	0	11	0	11	0	8	0	2	1	8	0	0	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr7:142562074C>T	ENST00000392957.2	+	7	1303	c.516C>T	c.(514-516)tcC>tcT	p.S172S	EPHB6_ENST00000442129.1_Silent_p.S172S|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	172	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Poly-Ser.					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)					cctcctcctcctcttcttcct	0.622																																					p.S172S													.	EPHB6	168		0			c.C516T												83	98	93					7																	142562074		2200	4299	6499	SO:0001819	synonymous_variant	2051	exon7			CTCCTCCTCTTCT	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.516C>T	7.37:g.142562074C>T			71	0.014084507	1		106	0.05	5	NM_004445	4	0	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																					0.622	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341329.1				T	142562074	C	T	142562074	2	4	141	1	0	0	0	0	0	0	0	1	5185	668	24	3		3	EPHB6	7	142562074	Silent	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	27998978	142562074	16576589	23	10391											
KCNH2	3757	hgsc.bcm.edu;mdanderson.org	37	chr7	150645544	150645544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcacccttgtccgtgcGcctgcggaaggacaacttgc	6	8	11	16	4	1	0	1	0	0	0	2	2	2	2	4	2	4	0	4	2	2	2	rs199473433		TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr7:150645544G>T	ENST00000262186.5	-	11	3081	c.2680C>A	c.(2680-2682)Cgc>Agc	p.R894S	KCNH2_ENST00000392968.2_Missense_Mutation_p.R798S|KCNH2_ENST00000330883.4_Missense_Mutation_p.R554S	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	894					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)	TTGTCCGTGCGCCTGCGGAAG	0.652																																					p.R894S	GBM(137;110 1844 13671 20123 45161)												KCNH2,NS,adenocarcinoma,+1,1	KCNH2	1	1	0			c.C2680A												39	37	38					7																	150645544		2203	4300	6503	SO:0001583	missense	3757	exon11			CCGTGCGCCTGCG	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.2680C>A	7.37:g.150645544G>T	ENSP00000262186:p.Arg894Ser		23	0	0		30	0.07	2	NM_000238	2	0	0	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968037	0.53507	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	D;D;D	0.98550	-4.69;-4.77;-4.99	3.87	3.87	0.44632	.	0.065888	0.52532	D	0.000062	D	0.97932	0.9320	M	0.64997	1.995	0.80722	D	1	D;D;P	0.63880	0.993;0.993;0.626	D;D;B	0.71184	0.972;0.972;0.076	D	0.96159	0.9114	10	0.15952	T	0.53	.	9.0155	0.36168	0.0:0.0:0.7798:0.2202	.	798;894;554	C4PFH9;Q12809;Q12809-2	.;KCNH2_HUMAN;.	S	554;798;894	ENSP00000328531:R554S;ENSP00000376695:R798S;ENSP00000262186:R894S	ENSP00000262186:R894S	R	-	1	0	KCNH2	150276477	0.998000	0.40836	1.000000	0.80357	0.938000	0.57974	2.842000	0.48230	2.172000	0.68678	0.491000	0.48974	CGC			0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350741.2		NM_000238		T	150645544	G	T	150645544	3	4	141	1	0	0	0	0	1	0	0	0	8047	1087	38	1	819	1	KCNH2	7	150645544	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	8083470	150645544	8493119	24	10392											
EIF2C2	27161	broad.mit.edu	37	chr8	141551316	141551316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagaagatgatgcgggtggGcttgaagcgcgtggacttgt	8	10	18	5	3	0	4	0	2	0	2	0	5	0	5	0	3	2	2	0	3	3	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr8:141551316G>T	ENST00000220592.5	-	15	2093	c.1981C>A	c.(1981-1983)Ccc>Acc	p.P661T	AGO2_ENST00000519980.1_Missense_Mutation_p.P661T	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	661	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)										ATGCGGGTGGGCTTGAAGCGC	0.612																																					p.P661T													.	.			0			c.C1981A												110	86	94					8																	141551316		2200	4300	6500	SO:0001583	missense	27161	exon15			GGGTGGGCTTGAA	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.1981C>A	8.37:g.141551316G>T	ENSP00000220592:p.Pro661Thr		54	0.0185185185	1		83	0.08	7	NM_012154	6	0	0	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988289	0.93106	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.49432	0.78;0.78	5.36	5.36	0.76844	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91325	0.5085	10	0.72032	D	0.01	-18.2573	19.4371	0.94799	0.0:0.0:1.0:0.0	.	661;661	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	T	661	ENSP00000220592:P661T;ENSP00000430176:P661T	ENSP00000220592:P661T	P	-	1	0	EIF2C2	141620498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.774000	0.98992	2.642000	0.89623	0.650000	0.86243	CCC			0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377866.4				T	141551316	G	T	141551316	3	4	141	1	0	0	0	0	1	0	0	0	5011	1203	42	2	618	2	EIF2C2	8	141551316	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		141551316	4812706	25	10393											
UBQLN1	29979	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr9	86294939	86294939	+	Frame_Shift_Del	DEL	T	T	-																															aagctactcagacctgcaagTcccccaaggccacctaagag																										TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr9:86294939delT	ENST00000376395.4	-	4	985	c.462delA	c.(460-462)ggafs	p.G154fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.G154fs	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	154					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GACCTGCAAGTCCCCCAAGGC	0.388																																					p.L155fs	Melanoma(186;1284 2073 12755 14558 18426)												.	UBQLN1	49		0			c.463delC												60	59	59					9																	86294939		2203	4300	6503	SO:0001589	frameshift_variant	29979	exon4			TGCAAGTCCCCCA	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.462delA	9.37:g.86294939delT	ENSP00000365576:p.Gly154fs		87	0	0		83	0.23	19	NM_053067	3	0	0	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																					0.388	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000052834.1		NM_013438		-	86294939	T	-	86294939	7	5	141	1	0	1	0	1	0	0	0	0	16920	1654	58	0	1339	0	UBQLN1	9	86294939	Frame_Shift_Del	DEL	T	TCGA-ZM-AA06-01A-12D-A435-10		86294939	54918492	26	10394	19	3									
UBQLN1	29979	bcgsc.ca	37	chr9	86294940	86294940	+	Missense_Mutation	SNP	C	C	A																															agctactcagacctgcaagtCccccaaggccacctaagagg																										TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr9:86294940C>A	ENST00000376395.4	-	4	984	c.461G>T	c.(460-462)gGa>gTa	p.G154V	UBQLN1_ENST00000257468.7_Missense_Mutation_p.G154V	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	154					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						ACCTGCAAGTCCCCCAAGGCC	0.383																																					p.G154V	Melanoma(186;1284 2073 12755 14558 18426)												.	UBQLN1	49		0			c.G461T												59	58	58					9																	86294940		2203	4300	6503	SO:0001583	missense	29979	exon4			GCAAGTCCCCCAA	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.461G>T	9.37:g.86294940C>A	ENSP00000365576:p.Gly154Val		86	0	0		82	0.23	19	NM_053067	3	0	0	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251363	0.80135	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	D;D	0.84298	-1.83;-1.83	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.92698	0.7679	M	0.83603	2.65	0.80722	D	1	P;D	0.65815	0.802;0.995	P;D	0.63957	0.477;0.92	D	0.92796	0.6252	10	0.62326	D	0.03	.	19.6453	0.95775	0.0:1.0:0.0:0.0	.	154;154	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	V	154	ENSP00000365576:G154V;ENSP00000257468:G154V	ENSP00000257468:G154V	G	-	2	0	UBQLN1	85484760	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.950000	0.63603	2.744000	0.94065	0.650000	0.86243	GGA			0.383	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000052834.1		NM_013438		A	86294940	C	A	86294940	3	1	141	1	0	0	0	0	1	0	0	0	16920	855	30	3	1340	3	UBQLN1	9	86294940	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	1	86294940	54918491	27	10395	19	3									
UBQLN1	29979	hgsc.bcm.edu	37	chr9	86294943	86294943	+	Frame_Shift_Del	DEL	C	C	-																															tactcagacctgcaagtcccCcaaggccacctaagaggata																										TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr9:86294943delC	ENST00000376395.4	-	4	981	c.458delG	c.(457-459)gggfs	p.G154fs	UBQLN1_ENST00000257468.7_Frame_Shift_Del_p.G154fs	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	154					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TGCAAGTCCCCCAAGGCCACC	0.378																																					p.G153fs	Melanoma(186;1284 2073 12755 14558 18426)												.	UBQLN1	49		0			c.459delG												56	55	55					9																	86294943		2203	4300	6503	SO:0001589	frameshift_variant	29979	exon4			AGTCCCCCAAGGC	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.458delG	9.37:g.86294943delC	ENSP00000365576:p.Gly154fs		84	0	0		85	0	0	NM_053067	5	0	0	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Frame_Shift_Del	DEL	ENST00000376395.4	37	CCDS6663.1																																																																																					0.378	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000052834.1		NM_013438		-	86294943	C	-	86294943	7	5	141	1	0	1	0	1	0	0	0	0	16920	623	22	0	1343	0	UBQLN1	9	86294943	Frame_Shift_Del	DEL	C	TCGA-ZM-AA06-01A-12D-A435-10	3	86294943	54918488	28	10396	19	3									
FBP2	8789	mdanderson.org	37	chr9	97325644	97325644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccttagggctcttctGgttggctgggtacaggaaga	6	12	14	9	0	2	1	0	0	2	1	2	2	2	2	1	5	2	4	1	5	3	5			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr9:97325644G>T	ENST00000375337.3	-	6	871	c.805C>A	c.(805-807)Cag>Aag	p.Q269K	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	269					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGGCTCTTCTGGTTGGCTGGG	0.607																																					p.Q269K													.	.			0			c.C805A												127	113	118					9																	97325644		2203	4300	6503	SO:0001583	missense	8789	exon6			TCTTCTGGTTGGC	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.805C>A	9.37:g.97325644G>T	ENSP00000364486:p.Gln269Lys		64	0	0		56	0.05	3	NM_003837	0		0	Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	.	3.033	-0.199308	0.06219	.	.	ENSG00000130957	ENST00000375337	T	0.70164	-0.46	4.82	2.94	0.34122	.	0.183884	0.47455	N	0.000227	T	0.26484	0.0647	N	0.00569	-1.365	0.35081	D	0.763402	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.02654	T	1	-0.198	9.6753	0.40037	0.0:0.1377:0.5772:0.2851	.	269	O00757	F16P2_HUMAN	K	269	ENSP00000364486:Q269K	ENSP00000364486:Q269K	Q	-	1	0	FBP2	96365465	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.118000	0.31246	0.623000	0.30267	0.460000	0.39030	CAG			0.607	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053189.1		NM_003837		T	97325644	G	T	97325644	3	4	141	1	0	0	0	0	1	0	0	0	5719	1357	47	3	222	3	FBP2	9	97325644	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	11030701	97325644	43887787	29	10397											
FIBCD1	84929	bcgsc.ca	37	chr9	133805022	133805022	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtgccatgccccttccGcagccccatgcactccgtct	5	8	8	20	3	1	0	0	0	1	0	3	0	3	0	7	0	5	2	7	0	0	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr9:133805022G>T	ENST00000372338.4	-	2	726	c.484C>A	c.(484-486)Cgg>Agg	p.R162R	FIBCD1_ENST00000372337.2_Silent_p.R4R|FIBCD1_ENST00000253018.4_Silent_p.R4R|FIBCD1_ENST00000448616.1_Silent_p.R162R	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	162						integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGCCCCTTCCGCAGCCCCATG	0.706																																					p.R162R													.	FIBCD1	34		0			c.C484A												12	14	13					9																	133805022		2175	4251	6426	SO:0001819	synonymous_variant	84929	exon3			CCTTCCGCAGCCC	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.484C>A	9.37:g.133805022G>T			55	0	0		44	0.09	4	NM_001145106	1	0	0	A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063295	0.20067	.	.	ENSG00000130720	ENST00000444139	.	.	.	5.04	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6772	0.17755	0.1049:0.0:0.5074:0.3877	.	.	.	.	X	115	.	.	C	-	3	2	FIBCD1	132794843	0.997000	0.39634	0.999000	0.59377	0.640000	0.38277	2.342000	0.43992	1.128000	0.42052	0.462000	0.41574	TGC			0.706	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054687.2		NM_032843		T	133805022	G	T	133805022	2	4	141	1	0	0	0	0	0	0	0	1	5897	1086	38	1		1	FIBCD1	9	133805022	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	36479378	133805022	7408409	30	10398											
SETX	23064	mdanderson.org	37	chr9	135203904	135203904	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgagtttctcaagactcagGattctttcatcatcatcatc	10	15	6	10	0	7	2	6	1	2	1	9	3	7	3	0	1	0	1	0	1	1	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr9:135203904G>T	ENST00000224140.5	-	10	3263	c.3081C>A	c.(3079-3081)atC>atA	p.I1027I	SETX_ENST00000372169.2_Silent_p.I1027I|SETX_ENST00000393220.1_Silent_p.I1027I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1027					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)		CAAGACTCAGGATTCTTTCAT	0.373																																					p.I1027I													.	.			0			c.C3081A												115	114	114					9																	135203904		2203	4300	6503	SO:0001819	synonymous_variant	23064	exon10			ACTCAGGATTCTT	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.3081C>A	9.37:g.135203904G>T			48	0	0		43	0.07	3	NM_015046	0		0	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	CCDS6947.1																																																																																					0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054774.3		NM_015046		T	135203904	G	T	135203904	2	4	141	1	0	0	0	0	0	0	0	1	14164	1164	41	3		3	SETX	9	135203904	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	1398882	135203904	6009527	31	10399											
ENTPD2	954	ucsc.edu;bcgsc.ca	37	chr9	139944978	139944978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcggccagcaggggtGgaagccgtgggtctggggga	5	5	20	11	2	1	0	0	0	1	0	2	2	1	2	4	7	2	1	4	7	1	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr9:139944978G>T	ENST00000355097.2	-	6	834	c.787C>A	c.(787-789)Cac>Aac	p.H263N	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Missense_Mutation_p.H263N	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	263					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGCAGGGGTGGAAGCCGTGG	0.632											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H263N													.	ENTPD2	30		0			c.C787A												26	23	24					9																	139944978		2197	4293	6490	SO:0001583	missense	954	exon6			AGGGGTGGAAGCC	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.787C>A	9.37:g.139944978G>T	ENSP00000347213:p.His263Asn		39	0	0	1652	30	0.13	4	NM_203468	0		0	O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588134	0.28268	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.09350	2.99;2.99	4.66	3.69	0.42338	.	0.209851	0.49305	D	0.000155	T	0.10121	0.0248	N	0.16708	0.43	0.41073	D	0.985462	B;P	0.38745	0.259;0.645	B;P	0.47744	0.137;0.556	T	0.35919	-0.9769	10	0.21014	T	0.42	-16.1399	10.9642	0.47403	0.0:0.0:0.8135:0.1865	.	263;263	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	N	263	ENSP00000347213:H263N;ENSP00000312494:H263N	ENSP00000312494:H263N	H	-	1	0	ENTPD2	139064799	0.999000	0.42202	0.921000	0.36526	0.238000	0.25445	2.910000	0.48766	2.117000	0.64856	0.561000	0.74099	CAC			0.632	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055169.1		NM_203468		T	139944978	G	T	139944978	3	4	141	1	0	0	0	0	1	0	0	0	5146	1348	47	3	716	3	ENTPD2	9	139944978	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	4741074	139944978	1268453	32	10400											
PDDC1	347862	mdanderson.org	37	chr11	775093	775093	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccacctgcaggttgaaGgcggtgctggccatcgtgaa	7	8	16	10	2	0	2	0	2	0	0	1	2	0	2	3	5	2	3	3	5	2	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr11:775093G>T	ENST00000319863.8	-	2	135	c.114C>A	c.(112-114)gcC>gcA	p.A38A	PDDC1_ENST00000524550.1_Silent_p.A38A|AP006621.5_ENST00000530083.1_5'Flank|PDDC1_ENST00000526325.1_Silent_p.A38A|PDDC1_ENST00000529966.1_Intron|PDDC1_ENST00000397472.2_Silent_p.A38A|PDDC1_ENST00000442059.2_Intron	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	38						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGTTGAAGGCGGTGCTGG	0.642																																					p.A38A													.	.			0			c.C114A												80	64	69					11																	775093		2196	4293	6489	SO:0001819	synonymous_variant	347862	exon2			GTTGAAGGCGGTG	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.114C>A	11.37:g.775093G>T			53	0.0188679245	1		39	0.08	3	NM_182612	0		0	B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	ENST00000319863.8	37	CCDS7713.1																																																																																					0.642	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258051.2		NM_182612		T	775093	G	T	775093	2	4	141	1	0	0	0	0	0	0	0	1	11646	987	35	3		3	PDDC1	11	775093	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		775093	134231423	33	10401											
FAM76B	143684	mdanderson.org	37	chr11	95521721	95521721	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaataggatgtgcaatccGacattcctgtaataagacaa	16	10	7	8	1	0	1	0	0	0	1	2	3	2	2	2	1	2	2	2	1	7	5			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr11:95521721G>T	ENST00000358780.5	-	2	406	c.94C>A	c.(94-96)Cgg>Agg	p.R32R	CEP57_ENST00000538658.1_5'Flank|CEP57_ENST00000325542.5_5'Flank|CEP57_ENST00000325486.5_5'Flank|FAM76B_ENST00000536839.1_Silent_p.R32R|CEP57_ENST00000537677.1_5'Flank|FAM76B_ENST00000538047.1_5'UTR	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	32						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)				TGTGCAATCCGACATTCCTGT	0.343																																					p.R32R													.	.			0			c.C94A												88	85	86					11																	95521721		1834	4092	5926	SO:0001819	synonymous_variant	143684	exon2			CAATCCGACATTC		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.94C>A	11.37:g.95521721G>T			30	0	0		40	0.08	3	NM_144664	0		0	Q6PIU3|Q8TC53	Silent	SNP	ENST00000358780.5	37	CCDS41700.1																																																																																					0.343	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395969.1		NM_144664		T	95521721	G	T	95521721	2	4	141	1	0	0	0	0	0	0	0	1	5638	1057	37	1		1	FAM76B	11	95521721	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	94746628	95521721	39484795	34	10402											
CBL	867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr11	119149218	119149218	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcttttgcttcttctgcAggaatcagaaggtcagggct	8	14	10	9	0	5	1	2	0	3	1	5	2	5	2	0	3	2	3	0	3	3	5			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr11:119149218A>G	ENST00000264033.4	+	9	1603		c.e9-1			NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase						cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(5)|p.G397_I429del(1)|p.E369_Q409del(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCTTCTGCAGGAATCAGAA	0.383			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																												.				"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	CBL,colon,carcinoma,0,7	CBL	0	7	8	Unknown(5)|Deletion - In frame(3)	haematopoietic_and_lymphoid_tissue(8)	c.1228-2A>G												109	108	109					11																	119149218		2199	4295	6494	SO:0001630	splice_region_variant	867	exon9	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	TTCTGCAGGAATC	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1228-1A>G	11.37:g.119149218A>G			159	0	0		88	0.52	46	NM_005188	1	1	1	A3KMP8	Splice_Site	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629847	0.87660	.	.	ENSG00000110395	ENST00000264033	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CBL	118654428	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.894000	0.92506	2.231000	0.72958	0.460000	0.39030	.			0.383	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388219.4		NM_005188	Intron	G	119149218	A	G	119149218	5	3	141	1	0	0	0	0	0	0	1	0	2702	202	7	4	1260	4	CBL	11	119149218	Splice_Site	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10	23627497	119149218	15857298	35	10403											
FBXL14	144699	broad.mit.edu	37	chr12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcagcttggcctccAccccccgccacaccgacttg	6	6	10	19	2	0	0	0	0	0	0	1	1	1	0	7	2	2	3	7	2	0	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	FBXL14_ENST00000543278.1_5'Flank|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731																																					p.V48G													.	FBXL14	19		0			c.T143G												7	9	8					12																	1703090		2147	4245	6392	SO:0001583	missense	144699	exon1			GCCTCCACCCCCC	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.143T>G	12.37:g.1703090A>C	ENSP00000344855:p.Val48Gly		18	0.4444444444	8		39	0.54	21	NM_152441	0		0		Missense_Mutation	SNP	ENST00000339235.3	37	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263601	0.59431	.	.	ENSG00000171823	ENST00000339235	T	0.56776	0.44	4.03	4.03	0.46877	F-box domain, cyclin-like (1);	0.155201	0.43260	D	0.000588	T	0.74913	0.3779	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78001	-0.2375	10	0.87932	D	0	.	6.3942	0.21603	0.8088:0.0:0.1912:0.0	.	48	Q8N1E6	FXL14_HUMAN	G	48	ENSP00000344855:V48G	ENSP00000344855:V48G	V	-	2	0	FBXL14	1573351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.648000	0.83479	1.684000	0.51022	0.254000	0.18369	GTG			0.731	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206741.1		NM_152441		C	1703090	A	C	1703090	3	2	141	1	0	0	0	0	1	0	0	0	5723	159	6	4	1121	4	FBXL14	12	1703090	Missense_Mutation	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10		1703090	132148805	36	10404											
GPR162	27239	broad.mit.edu	37	chr12	6933751	6933751	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggggaccaaagcgggtggGccaggggccttgggtacccg	6	4	21	10	2	0	0	0	0	0	0	0	1	0	1	4	8	2	1	4	8	2	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr12:6933751G>T	ENST00000311268.3	+	2	1474	c.687G>T	c.(685-687)ggG>ggT	p.G229G	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						AAGCGGGTGGGCCAGGGGCCT	0.687																																					p.G229G													GPR162,colon,carcinoma,+1,1	GPR162	55	1	0			c.G687T												33	37	36					12																	6933751		2203	4300	6503	SO:0001819	synonymous_variant	27239	exon2			GGGTGGGCCAGGG	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.687G>T	12.37:g.6933751G>T			54	0.0185185185	1		103	0.05	5	NM_019858	0		0	Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	CCDS8563.1																																																																																					0.687	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399478.1		NM_019858		T	6933751	G	T	6933751	2	4	141	1	0	0	0	0	0	0	0	1	6680	1190	42	2		2	GPR162	12	6933751	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	5230661	6933751	126918144	37	10405											
BAZ2A	11176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	56995804	56995804	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggacttaagatgcctaggTtgcatagacccgggcttagt	9	10	14	8	1	0	2	0	0	0	2	0	3	0	3	2	4	2	3	2	4	4	5			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr12:56995804T>C	ENST00000551812.1	-	20	3796	c.3603A>G	c.(3601-3603)caA>caG	p.Q1201Q	BAZ2A_ENST00000379441.3_Silent_p.Q1171Q|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Silent_p.Q1169Q|BAZ2A_ENST00000549884.1_Silent_p.Q1199Q	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1201					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GATGCCTAGGTTGCATAGACC	0.592																																					p.Q1201Q													.	.			0			c.A3603G												22	22	22					12																	56995804		1877	4043	5920	SO:0001819	synonymous_variant	11176	exon20			CCTAGGTTGCATA	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3603A>G	12.37:g.56995804T>C			100	0	0		109	0.16	17	NM_013449	8	0.13	1	B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	CCDS44924.1																																																																																					0.592	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408561.1		NM_013449		C	56995804	T	C	56995804	2	2	141	1	0	0	0	0	0	0	0	1	1331	1722	60	4		4	BAZ2A	12	56995804	Silent	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10	50062053	56995804	76856091	38	10406											
NACA	4666	broad.mit.edu	37	chr12	57111746	57111746	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggggcccctttgggggAtggggtagctagacctcctt	4	11	17	9	0	0	1	0	0	0	1	1	2	1	2	4	6	1	2	4	6	2	4	rs2958150		TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr12:57111746A>G	ENST00000454682.1	-	3	3849	c.3568T>C	c.(3568-3570)Tcc>Ccc	p.S1190P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1190	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTTTGGGGGATGGGGTAGCT	0.632			T	BCL6	NHL																																.				Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA	131		0			.												70	79	76					12																	57111746		1211	2850	4061	SO:0001583	missense	4666	.			TGGGGGATGGGGT	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3568T>C	12.37:g.57111746A>G	ENSP00000403817:p.Ser1190Pro		128	0.0703125	9		179	0.07	13	.	0		0		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	N	4.185	0.032930	0.08101	.	.	ENSG00000196531	ENST00000454682	T	0.48522	0.81	3.45	-6.89	0.01660	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13656	-1.0501	7	.	.	.	.	3.2779	0.06904	0.2678:0.208:0.4211:0.1031	.	1190	E9PAV3	.	P	1190	ENSP00000403817:S1190P	.	S	-	1	0	NACA	55398013	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.625000	0.05534	-2.321000	0.00641	-2.753000	0.00124	TCC			0.632	NACA-201	KNOWN	basic	protein_coding	protein_coding				NM_005594		G	57111746	A	G	57111746	3	3	141	1	0	0	0	0	1	0	0	0	10149	333	12	4	2696	4	NACA	12	57111746	Missense_Mutation	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10	115942	57111746	76740149	39	10407											
STOML3	161003	mdanderson.org	37	chr13	39544325	39544325	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcatggtgtctttacctgGatgctatgggcgatctcttc	5	16	11	9	1	3	0	1	0	2	0	5	2	3	1	1	3	2	2	1	3	2	5			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr13:39544325G>T	ENST00000379631.4	-	5	857	c.513C>A	c.(511-513)atC>atA	p.I171I	STOML3_ENST00000423210.1_Silent_p.I162I	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	171					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)		TCTTTACCTGGATGCTATGGG	0.418																																					p.I171I													.	.			0			c.C513A												93	81	85					13																	39544325		2203	4300	6503	SO:0001819	synonymous_variant	161003	exon5			TACCTGGATGCTA	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.513C>A	13.37:g.39544325G>T			133	0	0		125	0.04	5	NM_145286	0		0	B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	CCDS9367.1																																																																																					0.418	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000044604.2				T	39544325	G	T	39544325	2	4	141	1	0	0	0	0	0	0	0	1	15338	1164	41	3		3	STOML3	13	39544325	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		39544325	75625553	40	10408											
EDNRB	1910	mdanderson.org	37	chr13	78492307	78492307	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgatcaagatattgggaccGtttcgcatgcacttgttctt	8	14	10	9	3	2	1	1	0	1	1	3	3	2	2	1	1	1	4	1	1	2	6			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr13:78492307G>A	ENST00000334286.5	-	1	638	c.402C>T	c.(400-402)aaC>aaT	p.N134N	EDNRB_ENST00000377211.4_Silent_p.N224N|EDNRB_ENST00000446573.1_Silent_p.N134N|EDNRB_ENST00000475537.1_5'Flank|RNF219-AS1_ENST00000607862.1_RNA	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	134					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|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)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TATTGGGACCGTTTCGCATGC	0.493																																					p.N224N													EDNRB_ENST00000377211,NS,carcinoma,0,2	EDNRB_ENST00000377211	0	2	0			c.C672T												127	114	118					13																	78492307		2203	4300	6503	SO:0001819	synonymous_variant	1910	exon2			GGGACCGTTTCGC	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.402C>T	13.37:g.78492307G>A			98	0	0		85	0.05	4	NM_001201397	0		0	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	CCDS9461.1																																																																																					0.493	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276505.1				A	78492307	G	A	78492307	2	1	141	1	0	0	0	0	0	0	0	1	4925	1136	40	1		1	EDNRB	13	78492307	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	38947982	78492307	36677571	41	10409											
PSMC1	5700	broad.mit.edu	37	chr14	90735759	90735759	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatgactccaattctggTggtgagagagaaattcagcg	13	10	12	6	1	2	4	1	2	1	3	3	6	3	4	1	2	1	0	1	2	3	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr14:90735759T>G	ENST00000261303.8	+	9	1003	c.900T>G	c.(898-900)ggT>ggG	p.G300G	PSMC1_ENST00000543772.2_Silent_p.G227G	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	300					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)|ATP catabolic process (GO:0006200)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CCAATTCTGGTGGTGAGAGAG	0.423																																					p.G300G													.	PSMC1	27		0			c.T900G												88	87	88					14																	90735759		2203	4300	6503	SO:0001819	synonymous_variant	5700	exon9			TTCTGGTGGTGAG	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.900T>G	14.37:g.90735759T>G			33	0.0909090909	3		34	0.29	10	NM_002802	60	0	0	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Silent	SNP	ENST00000261303.8	37	CCDS32139.1																																																																																					0.423	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411253.1		NM_002802		G	90735759	T	G	90735759	2	3	141	1	0	0	0	0	0	0	0	1	12705	1683	59	4		4	PSMC1	14	90735759	Silent	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10		90735759	16613781	42	10410											
BCL11B	64919	hgsc.bcm.edu	37	chr14	99641568	99641568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcgtcctcctcctccggctc	0	13	3	25	2	0	0	0	0	0	0	13	0	11	0	11	1	0	1	11	1	0	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr14:99641568C>G	ENST00000357195.3	-	4	1614	c.1605G>C	c.(1603-1605)gaG>gaC	p.E535D	BCL11B_ENST00000443726.2_Missense_Mutation_p.E341D|BCL11B_ENST00000345514.2_Missense_Mutation_p.E464D	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	535	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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)	p.E535_E536delEE(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cctcctcctcctcgtcctcct	0.697			T	TLX3	T-ALL																																p.E535D				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	BCL11B,colon,carcinoma,0,1	BCL11B	0	1	1	Deletion - In frame(1)	prostate(1)	c.G1605C												5	5	5					14																	99641568		2084	4070	6154	SO:0001583	missense	64919	exon4			CTCCTCCTCGTCC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1605G>C	14.37:g.99641568C>G	ENSP00000349723:p.Glu535Asp		21	0	0		31	0.13	4	NM_138576	0		0	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167616	0.38315	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.13657	2.57;2.6;2.57	3.81	0.863	0.19062	.	0.158674	0.40144	N	0.001176	T	0.07324	0.0185	N	0.22421	0.69	0.40982	D	0.984788	B;B	0.31413	0.322;0.185	B;B	0.31390	0.129;0.048	T	0.38394	-0.9663	10	0.30854	T	0.27	-8.4478	4.8239	0.13407	0.0:0.4986:0.1502:0.3512	.	464;535	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	D	535;464;341	ENSP00000349723:E535D;ENSP00000280435:E464D;ENSP00000387419:E341D	ENSP00000280435:E464D	E	-	3	2	BCL11B	98711321	0.591000	0.26824	0.998000	0.56505	0.990000	0.78478	-0.193000	0.09573	-0.059000	0.13154	0.561000	0.74099	GAG			0.697	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000072332.2		NM_138576		G	99641568	C	G	99641568	3	3	141	1	0	0	0	0	1	0	0	0	1364	680	24	5	1083	5	BCL11B	14	99641568	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	8905809	99641568	7707972	43	10411											
DYNC1H1	1778	hgsc.bcm.edu;mdanderson.org	37	chr14	102505463	102505463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacctgaagagagaggctGcagaggtcaccaggaaagtt	15	5	14	7	0	1	5	1	1	0	4	1	7	1	6	2	3	2	3	2	3	3	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr14:102505463G>T	ENST00000360184.4	+	60	11496	c.11332G>T	c.(11332-11334)Gca>Tca	p.A3778S	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3778	AAA 5. {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						GAGAGAGGCTGCAGAGGTCAC	0.542																																					p.A3778S													.	.			0			c.G11332T												86	80	82					14																	102505463		2203	4300	6503	SO:0001583	missense	1778	exon60			GAGGCTGCAGAGG	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.11332G>T	14.37:g.102505463G>T	ENSP00000348965:p.Ala3778Ser		63	0	0		86	0.05	4	NM_001376	24	0	0	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995177	0.74703	.	.	ENSG00000197102	ENST00000360184	T	0.57907	0.37	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	L	0.41492	1.28	0.80722	D	1	P	0.35192	0.489	B	0.34093	0.175	T	0.39292	-0.9621	10	0.38643	T	0.18	.	15.3189	0.74105	0.0671:0.0:0.9329:0.0	.	3778	Q14204	DYHC1_HUMAN	S	3778	ENSP00000348965:A3778S	ENSP00000348965:A3778S	A	+	1	0	DYNC1H1	101575216	1.000000	0.71417	0.343000	0.25615	0.958000	0.62258	9.869000	0.99810	1.518000	0.48934	0.561000	0.74099	GCA			0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414574.1		NM_001376		T	102505463	G	T	102505463	3	4	141	1	0	0	0	0	1	0	0	0	4846	1319	46	2	11570	2	DYNC1H1	14	102505463	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	2863895	102505463	4844077	44	10412											
IFT140	9742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	1634408	1634408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcactgccagcaggttcTtcctggaaccccacttcatt	7	13	7	14	0	3	0	2	0	1	0	4	1	4	1	4	2	3	3	4	2	1	5	rs369998823		TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr16:1634408T>C	ENST00000426508.2	-	11	1532	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	390					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)				CAGCAGGTTCTTCCTGGAACC	0.552																																					p.K390R													.	.			0			c.A1169G							T	ARG/LYS	0,4398		0,0,2199	36	29	32		1169	2.4	1	16		32	2,8598	1.2+/-3.3	0,2,4298	no	missense	IFT140	NM_014714.3	26	0,2,6497	CC,CT,TT		0.0233,0.0,0.0154	benign	390/1463	1634408	2,12996	2199	4300	6499	SO:0001583	missense	9742	exon11			AGGTTCTTCCTGG	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.1169A>G	16.37:g.1634408T>C	ENSP00000406012:p.Lys390Arg		27	0	0		25	0.2	5	NM_014714	3	0.33	1	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	7.394	0.631311	0.14322	0.0	2.33E-4	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.70399	-0.48	5.81	2.37	0.29283	WD40/YVTN repeat-like-containing domain (1);	0.445605	0.26387	N	0.024666	T	0.59376	0.2189	L	0.50333	1.59	0.40475	D	0.98038	B;B	0.13145	0.006;0.007	B;B	0.18561	0.01;0.022	T	0.46735	-0.9170	10	0.16420	T	0.52	.	8.8483	0.35184	0.0:0.2136:0.0:0.7864	.	390;115	Q96RY7;B4DR58	IF140_HUMAN;.	R	390	ENSP00000406012:K390R	ENSP00000380562:K390R	K	-	2	0	IFT140	1574409	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	1.452000	0.35156	0.137000	0.18759	0.533000	0.62120	AAG			0.552	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250438.2		NM_014714		C	1634408	T	C	1634408	3	2	141	1	0	0	0	0	1	0	0	0	7571	1609	56	4	3303	4	IFT140	16	1634408	Missense_Mutation	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10		1634408	88720345	45	10413											
PSMB10	5699	broad.mit.edu	37	chr16	67969561	67969561	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtccagtcaggtctacGccgcccacgatcagcgatgc	7	7	12	15	5	3	0	2	0	1	0	4	2	4	0	3	2	4	0	3	2	1	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr16:67969561G>T	ENST00000358514.4	-	5	760	c.423C>A	c.(421-423)ggC>ggA	p.G141G	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	141					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)|cell morphogenesis (GO:0000902)|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)|humoral immune response (GO:0006959)|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)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	TCAGGTCTACGCCGCCCACGA	0.662																																					p.G141G													.	PSMB10	19		0			c.C423A												98	92	94					16																	67969561		2198	4300	6498	SO:0001819	synonymous_variant	5699	exon5			GTCTACGCCGCCC	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"Proteasome (prosome, macropain) subunits"	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.423C>A	16.37:g.67969561G>T			65	0	0		136	0.04	5	NM_002801	274	0	0	B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	37	CCDS10853.1																																																																																					0.662	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268887.1		NM_002801		T	67969561	G	T	67969561	2	4	141	1	0	0	0	0	0	0	0	1	12695	1074	38	1		1	PSMB10	16	67969561	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	66335153	67969561	22385192	46	10414											
SGSM2	9905	mdanderson.org	37	chr17	2266364	2266364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgatgagctggtccAgcggcaccgcatccggggtc	5	8	14	14	3	1	2	0	2	1	0	4	2	3	2	3	4	3	4	3	4	0	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr17:2266364A>G	ENST00000426855.2	+	6	783	c.608A>G	c.(607-609)cAg>cGg	p.Q203R	SGSM2_ENST00000268989.3_Missense_Mutation_p.Q203R|SGSM2_ENST00000574563.1_Missense_Mutation_p.Q203R	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	203					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)		GAGCTGGTCCAGCGGCACCGC	0.632																																					p.Q203R													.	.			0			c.A608G												56	49	51					17																	2266364		2203	4300	6503	SO:0001583	missense	9905	exon6			TGGTCCAGCGGCA	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.608A>G	17.37:g.2266364A>G	ENSP00000415107:p.Gln203Arg		47	0	0		42	0.07	3	NM_001098509	14	0	0	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904965	0.92035	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.16324	2.35;2.36	5.84	5.84	0.93424	.	0.050302	0.85682	D	0.000000	T	0.44705	0.1306	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.996	D;D;D	0.87578	0.998;0.985;0.986	T	0.44498	-0.9324	10	0.87932	D	0	-13.585	15.3978	0.74812	1.0:0.0:0.0:0.0	.	203;203;203	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	R	203	ENSP00000268989:Q203R;ENSP00000415107:Q203R	ENSP00000268989:Q203R	Q	+	2	0	SGSM2	2213114	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.339000	0.96797	2.234000	0.73211	0.460000	0.39030	CAG			0.632	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438186.1		NM_014853		G	2266364	A	G	2266364	3	3	141	1	0	0	0	0	1	0	0	0	14246	188	7	4	630	4	SGSM2	17	2266364	Missense_Mutation	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10		2266364	78928846	47	10415											
CAMTA2	23125	mdanderson.org	37	chr17	4883099	4883099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttctcccataaggtctggGaatgatgaaagactgaaggg	13	9	13	6	0	2	4	0	3	2	1	3	5	2	5	1	3	0	1	1	3	4	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr17:4883099G>T	ENST00000348066.3	-	9	1641	c.1518C>A	c.(1516-1518)ttC>ttA	p.F506L	CAMTA2_ENST00000414043.3_Missense_Mutation_p.F529L|CAMTA2_ENST00000361571.5_Missense_Mutation_p.F505L|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F506L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F511L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F508L	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	506					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TAAGGTCTGGGAATGATGAAA	0.572																																					p.F529L													.	.			0			c.C1587A												133	131	132					17																	4883099		2203	4300	6503	SO:0001583	missense	23125	exon9			GTCTGGGAATGAT	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1518C>A	17.37:g.4883099G>T	ENSP00000321813:p.Phe506Leu		62	0	0		51	0.06	3	NM_001171167	16	0	0	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172380	0.78452	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.31247	2.72;1.74;1.5;1.74;1.52	5.09	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.29908	0.895	0.32746	N	0.507012	D;D;D;D;P	0.58268	0.982;0.982;0.982;0.969;0.571	D;D;D;D;B	0.68943	0.952;0.952;0.961;0.914;0.222	T	0.36261	-0.9755	10	0.41790	T	0.15	-18.4322	8.0589	0.30621	0.1779:0.0:0.8221:0.0	.	482;529;508;506;505	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	L	529;508;505;506;506	ENSP00000412886:F529L;ENSP00000370712:F508L;ENSP00000354828:F505L;ENSP00000350910:F506L;ENSP00000321813:F506L	ENSP00000321813:F506L	F	-	3	2	CAMTA2	4823823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.051000	0.57412	2.653000	0.90120	0.655000	0.94253	TTC			0.572	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000216876.1		NM_015099		T	4883099	G	T	4883099	3	4	141	1	0	0	0	0	1	0	0	0	2616	1165	41	3	2200	3	CAMTA2	17	4883099	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	2616735	4883099	76312111	48	10416											
AMAC1L3	643664	mdanderson.org	37	chr17	7385311	7385311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctttctccctaacaggctgGcagtcacccctacttgaacc	8	10	6	17	0	2	1	1	1	1	0	3	1	2	1	5	2	3	2	5	2	3	4			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr17:7385311G>T	ENST00000412468.2	+	2	123	c.8G>T	c.(7-9)gGc>gTc	p.G3V	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	3						integral component of membrane (GO:0016021)											TAACAGGCTGGCAGTCACCCC	0.672																																					p.G3V													.	.			0			c.G8T												45	47	47					17																	7385311		2203	4300	6503	SO:0001583	missense	643664	exon2			AGGCTGGCAGTCA		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.8G>T	17.37:g.7385311G>T	ENSP00000396523:p.Gly3Val		88	0.0113636364	1		41	0.07	3	NM_001102614	0		0		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023260	0.35701	.	.	ENSG00000181222	ENST00000412468	T	0.29655	1.56	4.21	1.94	0.25998	.	.	.	.	.	T	0.19765	0.0475	N	0.14661	0.345	0.42961	D	0.994406	P	0.46457	0.878	B	0.42245	0.381	T	0.10064	-1.0646	9	0.72032	D	0.01	-2.3069	11.8852	0.52598	0.0:0.3462:0.6538:0.0	.	3	P0C7Q6	S35G6_HUMAN	V	3	ENSP00000396523:G3V	ENSP00000396523:G3V	G	+	2	0	SLC35G6	7326035	0.997000	0.39634	0.998000	0.56505	0.824000	0.46624	0.723000	0.25939	0.854000	0.35336	0.462000	0.41574	GGC			0.672	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001102614		T	7385311	G	T	7385311	3	4	141	1	0	0	0	0	1	0	0	0	561	1203	42	2	14	2	AMAC1L3	17	7385311	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	2502212	7385311	73809899	49	10417											
MYH3	4621	mdanderson.org	37	chr17	10533025	10533025	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagcctttcggaatttGgtgagatgagcattggcttg	7	14	14	6	1	0	3	0	3	0	1	1	5	0	4	1	3	3	3	1	3	1	4			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr17:10533025G>T	ENST00000583535.1	-	40	5772	c.5685C>A	c.(5683-5685)acC>acA	p.T1895T	MYH3_ENST00000226209.7_Silent_p.T1895T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1895					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)	p.T1895T(1)		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						TTCGGAATTTGGTGAGATGAG	0.527																																					p.T1895T													MYH3,NS,carcinoma,0,1	MYH3	0	1	1	Substitution - coding silent(1)	lung(1)	c.C5685A												79	73	75					17																	10533025		2203	4300	6503	SO:0001819	synonymous_variant	4621	exon40			GAATTTGGTGAGA		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.5685C>A	17.37:g.10533025G>T			79	0	0		51	0.06	3	NM_002470	79	0	0	Q15492	Silent	SNP	ENST00000583535.1	37	CCDS11157.1																																																																																					0.527	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252734.2		NM_002470		T	10533025	G	T	10533025	2	4	141	1	0	0	0	0	0	0	0	1	10052	1335	47	3		3	MYH3	17	10533025	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	3147714	10533025	70662185	50	10418											
NOS2	4843	mdanderson.org	37	chr17	26096134	26096134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcatgagcaaaggcgcAgaaccgagggtacatgctgg	13	6	14	8	2	1	2	1	1	0	1	1	3	1	2	1	3	4	4	1	3	4	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr17:26096134A>G	ENST00000313735.6	-	17	2136	c.1903T>C	c.(1903-1905)Tgc>Cgc	p.C635R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	635	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GCAAAGGCGCAGAACCGAGGG	0.612																																					p.C635R													.	.			0			c.T1903C												44	43	44					17																	26096134		2203	4300	6503	SO:0001583	missense	4843	exon17			AGGCGCAGAACCG	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1903T>C	17.37:g.26096134A>G	ENSP00000327251:p.Cys635Arg		39	0	0		35	0.09	3	NM_000625	0		0	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091076	0.76756	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.64991	-0.13	5.26	5.26	0.73747	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.97;0.999	D	0.91624	0.5313	10	0.66056	D	0.02	.	14.364	0.66792	1.0:0.0:0.0:0.0	.	600;635	F8WEM3;P35228	.;NOS2_HUMAN	R	635;596;600	ENSP00000327251:C635R	ENSP00000305638:C600R	C	-	1	0	NOS2	23120261	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.339000	0.96797	1.986000	0.57962	0.379000	0.24179	TGC			0.612	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255597.1		NM_000625		G	26096134	A	G	26096134	3	3	141	1	0	0	0	0	1	0	0	0	10560	188	7	4	1602	4	NOS2	17	26096134	Missense_Mutation	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10	15563109	26096134	55099076	51	10419											
MYO18A	399687	broad.mit.edu;mdanderson.org	37	chr17	27437604	27437604	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagcaccgtggcactGcctgcgcggcccagaaacag	10	3	13	15	3	0	2	0	0	0	2	0	3	0	2	4	2	4	2	4	2	1	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr17:27437604G>T	ENST00000527372.1	-	18	3117	c.2937C>A	c.(2935-2937)ggC>ggA	p.G979G	MYO18A_ENST00000354329.4_Silent_p.G979G|MYO18A_ENST00000533112.1_Silent_p.G979G|MYO18A_ENST00000531253.1_Silent_p.G979G	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	979	Myosin motor.				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)	p.G979G(2)		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)			CCGTGGCACTGCCTGCGCGGC	0.627																																					p.G979G	Esophageal Squamous(182;472 2015 7001 15270 22562)												MYO18A_ENST00000527372,NS,carcinoma,0,2	MYO18A	217	2	2	Substitution - coding silent(2)	endometrium(2)	c.C2937A												39	43	42					17																	27437604		1981	4171	6152	SO:0001819	synonymous_variant	399687	exon18			GGCACTGCCTGCG	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.2937C>A	17.37:g.27437604G>T			32	0.0625	2		31	0.23	7	NM_078471	4	0.25	1	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	CCDS45642.1																																																																																					0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389396.1		NM_078471		T	27437604	G	T	27437604	2	4	141	1	0	0	0	0	0	0	0	1	10081	1306	46	2		2	MYO18A	17	27437604	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	1341470	27437604	53757606	52	10420											
SP2	6668	broad.mit.edu	37	chr17	45993951	45993951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatcaccccctcaccgTccagtcacaagcctgtcccc	8	7	4	22	1	4	0	4	0	0	0	6	0	6	0	8	0	1	0	8	0	1	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr17:45993951T>C	ENST00000376741.4	+	3	651	c.514T>C	c.(514-516)Tcc>Ccc	p.S172P	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	172					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CCCCTCACCGTCCAGTCACAA	0.582																																					p.S172P													.	SP2	38		0			c.T514C												159	100	120					17																	45993951		2203	4300	6503	SO:0001583	missense	6668	exon3			TCACCGTCCAGTC		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.514T>C	17.37:g.45993951T>C	ENSP00000365931:p.Ser172Pro		91	0.0549450549	5		114	0.07	8	NM_003110	5	0	0	A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187636	0.57909	.	.	ENSG00000167182	ENST00000376741;ENST00000322172	T	0.10960	2.82	5.39	5.39	0.77823	.	0.127199	0.52532	D	0.000065	T	0.11750	0.0286	L	0.42245	1.32	0.39299	D	0.96486	D	0.56035	0.974	P	0.45913	0.497	T	0.13495	-1.0507	10	0.25751	T	0.34	.	9.8501	0.41051	0.1529:0.0:0.0:0.8471	.	172	Q02086	SP2_HUMAN	P	172;165	ENSP00000365931:S172P	ENSP00000316942:S165P	S	+	1	0	SP2	43348950	0.676000	0.27567	0.967000	0.41034	0.927000	0.56198	0.676000	0.25247	2.267000	0.75376	0.383000	0.25322	TCC			0.582	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316777.1		NM_003110		C	45993951	T	C	45993951	3	2	141	1	0	0	0	0	1	0	0	0	14987	1667	58	4	524	4	SP2	17	45993951	Missense_Mutation	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10	18556347	45993951	35201259	53	10421											
MYCBPAP	84073	broad.mit.edu	37	chr17	48585969	48585969	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccgttggctggcgggTgcggcgcagcctcggtgtct	1	8	20	12	6	1	0	0	0	1	0	2	0	1	0	2	7	2	3	2	7	0	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr17:48585969T>G	ENST00000323776.5	+	1	225	c.63T>G	c.(61-63)ggT>ggG	p.G21G	MYCBPAP_ENST00000419930.1_Silent_p.G21G|RP11-94C24.6_ENST00000502300.1_lincRNA|MYCBPAP_ENST00000436259.2_5'Flank	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)			GGCTGGCGGGTGCGGCGCAGC	0.677																																					p.G21G													.	MYCBPAP	135		0			c.T63G												4	6	5					17																	48585969		2028	4011	6039	SO:0001819	synonymous_variant	84073	exon1			GGCGGGTGCGGCG	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.63T>G	17.37:g.48585969T>G			105	0.1904761905	20		136	0.26	36	NM_032133	0		0		Silent	SNP	ENST00000323776.5	37	CCDS32680.2																																																																																					0.677	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347814.1		NM_032133		G	48585969	T	G	48585969	2	3	141	1	0	0	0	0	0	0	0	1	10035	1683	59	4		4	MYCBPAP	17	48585969	Silent	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10	2592018	48585969	32609241	54	10422											
CREB3L3	84699	ucsc.edu	37	chr19	4168454	4168454	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcgatggcctggagactcGgtgggtagtgctggacccag	7	9	16	9	2	0	1	0	0	0	1	2	4	0	2	2	5	1	2	2	5	2	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:4168454G>T	ENST00000078445.2	+	6	968	c.821G>T	c.(820-822)cGg>cTg	p.R274L	CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Splice_Site_p.R272L|CREB3L3_ENST00000595923.1_Splice_Site_p.R273L|CREB3L3_ENST00000252587.3_Splice_Site_p.R214L	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	274	Basic motif. {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)		CTGGAGACTCggtgggtagtg	0.517																																					p.R274L													.	CREB3L3	53		0			c.G821T												58	41	47					19																	4168454		2203	4300	6503	SO:0001630	splice_region_variant	84699	exon6			AGACTCGGTGGGT		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.821+1G>T	19.37:g.4168454G>T			48	0	0		42	0.1	4	NM_032607	0		0	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830291	0.71258	.	.	ENSG00000060566	ENST00000078445;ENST00000252587	T;T	0.59083	0.29;0.29	5.06	5.06	0.68205	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	.	.	.	.	D	0.83635	0.5297	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.985;0.99;0.994	D	0.88814	0.3294	9	0.66056	D	0.02	-19.9213	17.3508	0.87323	0.0:0.0:1.0:0.0	.	272;273;274	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	L	274;214	ENSP00000078445:R274L;ENSP00000252587:R214L	ENSP00000078445:R274L	R	+	2	0	CREB3L3	4119454	0.892000	0.30473	0.994000	0.49952	0.052000	0.14988	0.562000	0.23531	2.507000	0.84556	0.655000	0.94253	CGG			0.517	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457922.1		NM_032607	Missense_Mutation	T	4168454	G	T	4168454	5	4	141	1	0	0	0	0	0	0	1	0	3860	1130	39	1	843	1	CREB3L3	19	4168454	Splice_Site	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		4168454	54960529	55	10423											
PLIN5	440503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr19	4529156	4529157	+	Missense_Mutation	DNP	GC	GC	AA																															tttccagtacaacatccacaGcatggctcacggagcgcttc																										TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	GC	GC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:4529156_4529157GC>AA	ENST00000381848.3	-	5	528_529	c.448_449GC>TT	c.(448-450)GCt>TTt	p.A150F	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	150	Essential for lipid droplet targeting. {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)		p.A150S(1)		endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AACATCCACAGCATGGCTCACG	0.629																																					p.A150F													PLIN5,NS,carcinoma,0,1	PLIN5	0	1	1	Substitution - Missense(1)	lung(1)	c.G448T																																									SO:0001583	missense	440503	exon5			TCCACAGCATGGC	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.448_449delinsAA	19.37:g.4529156_4529157delinsAA	ENSP00000371272:p.Ala150Phe		127	0	0		132	0.3	39	NM_001013706	2	0	0	A2RRC1|Q6ZS68	Missense_Mutation	DNP	ENST00000381848.3	37	CCDS42473.1																																																																																					0.629	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458647.1		NM_001013706		AA	4529157	GC	AA	4529156	3	1	141	1	0	0	0	0	1	0	0	0	12110	971	34	2	958	2	PLIN5	19	4529156	Missense_Mutation	DNP	GC	TCGA-ZM-AA06-01A-12D-A435-10	360702	4529156	54599827	56	10424											
PTPRS	5802	mdanderson.org	37	chr19	5246019	5246019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcatgatctcgtggctCatgggcaggatggagaagcg	8	8	16	9	2	2	2	1	1	1	1	3	4	2	3	1	5	1	3	1	5	1	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:5246019C>A	ENST00000587303.1	-	9	855	c.756G>T	c.(754-756)atG>atT	p.M252I	PTPRS_ENST00000262963.6_Missense_Mutation_p.M248I|PTPRS_ENST00000588012.1_Missense_Mutation_p.M239I|PTPRS_ENST00000592099.1_Missense_Mutation_p.M239I|PTPRS_ENST00000372412.4_Missense_Mutation_p.M253I|PTPRS_ENST00000348075.2_Missense_Mutation_p.M239I|PTPRS_ENST00000353284.2_Missense_Mutation_p.M239I|PTPRS_ENST00000357368.4_Missense_Mutation_p.M252I|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	252	Ig-like C2-type 3.				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)	TCTCGTGGCTCATGGGCAGGA	0.692																																					p.M252I													.	.			0			c.G756T												26	18	20					19																	5246019		2202	4298	6500	SO:0001583	missense	5802	exon10			GTGGCTCATGGGC	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.756G>T	19.37:g.5246019C>A	ENSP00000467537:p.Met252Ile		31	0	0		34	0.09	3	NM_002850	9	0	0	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378766	0.42207	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.12	3.02	0.34903	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.640853	0.14448	U	0.318944	T	0.45458	0.1343	L	0.31752	0.955	0.24575	N	0.993904	B;B;B;B;B;B	0.16802	0.0;0.001;0.0;0.019;0.0;0.0	B;B;B;B;B;B	0.17098	0.003;0.002;0.001;0.017;0.0;0.002	T	0.20273	-1.0280	10	0.34782	T	0.22	.	6.2961	0.21087	0.0:0.568:0.3156:0.1164	.	252;239;243;239;252;265	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	I	265;253;252;252;252;248;239;252;243;239	ENSP00000361489:M253I;ENSP00000349932:M252I;ENSP00000262963:M248I;ENSP00000269907:M239I;ENSP00000327313:M239I	ENSP00000262963:M248I	M	-	3	0	PTPRS	5197019	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.815000	0.38981	2.130000	0.65690	0.491000	0.48974	ATG			0.692	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000450762.2				A	5246019	C	A	5246019	3	1	141	1	0	0	0	0	1	0	0	0	12834	826	29	3	5206	3	PTPRS	19	5246019	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	716863	5246019	53882964	57	10425											
RASAL3	64926	mdanderson.org	37	chr19	15564108	15564108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcagattggcggcggCgggcaggacgccggaccggg	5	2	20	14	7	0	1	0	0	0	1	0	3	0	3	4	7	0	2	4	7	0	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:15564108C>T	ENST00000343625.7	-	15	2565	c.2480G>A	c.(2479-2481)cGc>cAc	p.R827H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	827	Arg-rich.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TTGGCGGCGGCGGGCAGGACG	0.776																																					p.R827H													.	.			0			c.G2480A												4	4	4					19																	15564108		1552	3451	5003	SO:0001583	missense	64926	exon15			CGGCGGCGGGCAG		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2480G>A	19.37:g.15564108C>T	ENSP00000341905:p.Arg827His		16	0	0		10	0.2	2	NM_022904	1	0	0	Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	8.015	0.758402	0.15846	.	.	ENSG00000105122	ENST00000343625	T	0.24723	1.84	4.24	-0.411	0.12370	.	1.095120	0.07191	N	0.855737	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.04013	0.001;0.001	T	0.32587	-0.9901	10	0.28530	T	0.3	.	6.3291	0.21260	0.0:0.5237:0.0:0.4763	.	827;827	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	H	827	ENSP00000341905:R827H	ENSP00000341905:R827H	R	-	2	0	RASAL3	15425108	0.886000	0.30341	0.133000	0.22050	0.378000	0.30076	0.482000	0.22276	0.234000	0.21139	0.591000	0.81541	CGC			0.776	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461331.3		NM_022904		T	15564108	C	T	15564108	3	4	141	1	0	0	0	0	1	0	0	0	13088	768	27	1	571	1	RASAL3	19	15564108	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	10318089	15564108	43564875	58	10426											
ZNF90	7643	mdanderson.org	37	chr19	20216113	20216113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagacatgagatgattGccaaatccccaggtaggtgc	13	8	12	8	0	0	4	0	3	0	2	1	6	1	4	3	2	2	1	3	2	3	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:20216113G>A	ENST00000418063.2	+	3	326	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	ZNF90_ENST00000474284.1_3'UTR	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	72	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(1)|lung(2)|ovary(1)|skin(1)	5						TGAGATGATTGCCAAATCCCC	0.408																																					p.A72T													.	.			0			c.G214A												103	103	103					19																	20216113		692	1591	2283	SO:0001583	missense	7643	exon3			ATGATTGCCAAAT	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.214G>A	19.37:g.20216113G>A	ENSP00000410466:p.Ala72Thr		36	0.0277777778	1		42	0.07	3	NM_007138	2	0	0	B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249411	0.22880	.	.	ENSG00000213988	ENST00000418063	T	0.04862	3.54	0.535	-0.73	0.11154	Krueppel-associated box (1);	.	.	.	.	T	0.08758	0.0217	L	0.44542	1.39	0.09310	N	1	D	0.63880	0.993	P	0.52109	0.69	T	0.27157	-1.0082	8	0.40728	T	0.16	.	.	.	.	.	72	Q03938	ZNF90_HUMAN	T	72	ENSP00000410466:A72T	ENSP00000410466:A72T	A	+	1	0	ZNF90	20077113	0.110000	0.22057	0.002000	0.10522	0.004000	0.04260	0.325000	0.19628	-0.309000	0.08779	0.194000	0.17425	GCC			0.408	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350101.1		NM_007138		A	20216113	G	A	20216113	3	1	141	1	0	0	0	0	1	0	0	0	18222	1319	46	2	224	2	ZNF90	19	20216113	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	4652005	20216113	38912870	59	10427											
ZNF43	7594	mdanderson.org	37	chr19	21991246	21991246	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctctccagtatgAgttatcttatgttcagtaag	9	17	9	6	0	3	1	1	1	2	0	5	1	4	1	1	1	0	5	1	1	5	7			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:21991246A>G	ENST00000354959.4	-	4	1762	c.1593T>C	c.(1591-1593)acT>acC	p.T531T	ZNF43_ENST00000595461.1_Silent_p.T525T|ZNF43_ENST00000598381.1_Silent_p.T525T|ZNF43_ENST00000594012.1_Silent_p.T525T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	531					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)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTCCAGTATGAGTTATCTTAT	0.353																																					p.T540T													.	.			0			c.T1620C												57	61	60					19																	21991246		2189	4286	6475	SO:0001819	synonymous_variant	7594	exon4			AGTATGAGTTATC	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1593T>C	19.37:g.21991246A>G			26	0	0		27	0.11	3	NM_001256653	16	0	0	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																					0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250380.2		NM_003423		G	21991246	A	G	21991246	2	3	141	1	0	0	0	0	0	0	0	1	17926	291	11	4		4	ZNF43	19	21991246	Silent	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10	1775133	21991246	37137737	60	10428											
ETV2	2116	broad.mit.edu	37	chr19	36135558	36135558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctctgtcctaggtggCtcggctgtggggcgagcgca	3	8	18	12	4	1	0	0	0	1	0	3	1	2	0	2	6	1	3	2	6	1	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:36135558C>A	ENST00000403402.1	+	6	1139	c.833C>A	c.(832-834)gCt>gAt	p.A278D	ETV2_ENST00000402764.2_Missense_Mutation_p.A278D|ETV2_ENST00000479824.1_Missense_Mutation_p.A185D|ETV2_ENST00000379023.4_Missense_Mutation_p.A91D|ETV2_ENST00000379026.2_Missense_Mutation_p.A306D			O00321	ETV2_HUMAN	ets variant 2	278					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	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)			lung(2)	2	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)			TCCTAGGTGGCTCGGCTGTGG	0.677																																					p.A278D													.	ETV2	11		0			c.C833A												17	18	18					19																	36135558		2195	4278	6473	SO:0001583	missense	2116	exon7			AGGTGGCTCGGCT	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"ets variant gene 2"			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.833C>A	19.37:g.36135558C>A	ENSP00000385369:p.Ala278Asp		57	0.0350877193	2		73	0.14	10	NM_014209	10	0	0	A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946747	0.92593	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379023;ENST00000403402	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.302462	0.25135	N	0.032880	T	0.68970	0.3059	M	0.93420	3.415	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.997	D;D;D;D	0.97110	1.0;0.964;1.0;0.964	T	0.78275	-0.2267	10	0.87932	D	0	.	14.7549	0.69557	0.0:1.0:0.0:0.0	.	91;277;306;278	Q3KNT2;O00321;A6NFN5;B9EIN1	.;ETV2_HUMAN;.;.	D	306;278;91;278	ENSP00000368312:A306D;ENSP00000384524:A278D;ENSP00000368309:A91D;ENSP00000385369:A278D	ENSP00000368309:A91D	A	+	2	0	ETV2	40827398	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.210000	0.77924	2.335000	0.79485	0.505000	0.49811	GCT			0.677	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318848.2		XM_209182		A	36135558	C	A	36135558	3	1	141	1	0	0	0	0	1	0	0	0	5285	797	28	2	855	2	ETV2	19	36135558	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	14144312	36135558	22993425	61	10429											
ZNF146	7705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	36727687	36727687	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcattcagaagtcaaacctCatcagacaccagagaactca	16	8	5	12	0	6	3	6	0	0	3	6	4	6	3	2	0	2	0	2	0	3	2	rs369142601		TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:36727687C>T	ENST00000443387.2	+	4	1337	c.345C>T	c.(343-345)ctC>ctT	p.L115L	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Silent_p.L115L	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	115					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)					AGTCAAACCTCATCAGACACC	0.433																																					p.L115L													.	.			0			c.C345T							C	,,	0,4406		0,0,2203	59	64	62		345,345,345	2.3	1	19		62	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF146	NM_001099638.1,NM_001099639.1,NM_007145.2	,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,	115/293,115/293,115/293	36727687	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	7705	exon3			AAACCTCATCAGA	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.345C>T	19.37:g.36727687C>T			115	0	0		98	0.15	15	NM_001099638	106	0.25	27	Q2TB94	Silent	SNP	ENST00000443387.2	37	CCDS12492.1																																																																																					0.433	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451706.1		NM_007145		T	36727687	C	T	36727687	2	4	141	1	0	0	0	0	0	0	0	1	17756	813	29	3		3	ZNF146	19	36727687	Silent	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	592129	36727687	22401296	62	10430											
FAM98C	147965	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr19	38899499	38899499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcccccagtgttggggtCgcaagaagaagaagaagaag	14	4	16	7	1	0	5	0	0	0	5	1	6	0	5	2	3	0	2	2	3	6	1	rs200637370		TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:38899499C>T	ENST00000252530.5	+	8	1046	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	FAM98C_ENST00000343358.7_Missense_Mutation_p.R261C|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	343										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGTTGGGGTCGCAAGAAGAA	0.612																																					p.R343C													FAM98C,NS,carcinoma,0,1	FAM98C	0	1	0			c.C1027T												35	40	38					19																	38899499		1822	4074	5896	SO:0001583	missense	147965	exon8			TGGGGTCGCAAGA		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1027C>T	19.37:g.38899499C>T	ENSP00000252530:p.Arg343Cys		127	0	0		139	0.21	29	NM_174905	51	0.24	12	A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550666	0.45383	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.54866	0.55;0.56	5.65	3.45	0.39498	.	2.061740	0.02782	N	0.121035	T	0.69360	0.3102	L	0.53249	1.67	0.09310	N	0.999996	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.732	T	0.56341	-0.7995	10	0.72032	D	0.01	-3.6046	14.0113	0.64498	0.0:0.7105:0.2895:0.0	.	261;343	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	C	343;261	ENSP00000252530:R343C;ENSP00000340348:R261C	ENSP00000252530:R343C	R	+	1	0	FAM98C	43591339	0.004000	0.15560	0.216000	0.23742	0.365000	0.29674	0.240000	0.18042	0.677000	0.31305	0.655000	0.94253	CGC			0.612	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000459222.1		NM_174905		T	38899499	C	T	38899499	3	4	141	1	0	0	0	0	1	0	0	0	5671	884	31	1	1057	1	FAM98C	19	38899499	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	2171812	38899499	20229484	63	10431											
LRRC4B	94030	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	51020870	51020870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttggagccgctcttGaagagcagaggttcgtggat	7	12	13	9	2	2	3	0	1	2	2	4	5	2	5	2	3	2	3	2	3	1	4			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr19:51020870G>T	ENST00000599957.1	-	3	2297	c.2100C>A	c.(2098-2100)ttC>ttA	p.F700L	ASPDH_ENST00000376916.3_5'Flank|ASPDH_ENST00000597030.1_5'Flank|LRRC4B_ENST00000389201.3_Missense_Mutation_p.F700L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	700					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)		AGCCGCTCTTGAAGAGCAGAG	0.711																																					p.F700L													.	LRRC4B	89		0			c.C2100A												25	28	27					19																	51020870		1886	4112	5998	SO:0001583	missense	94030	exon3			GCTCTTGAAGAGC	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.2100C>A	19.37:g.51020870G>T	ENSP00000471502:p.Phe700Leu		47	0	0		49	0.1	5	NM_001080457	40	0	0	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	CCDS42595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.788|9.788	1.177235|1.177235	0.21787|0.21787	.|.	.|.	ENSG00000131409|ENSG00000131409	ENST00000389201|ENST00000535879	T|.	0.26223|.	1.75|.	2.61|2.61	2.61|2.61	0.31194|0.31194	.|.	0.000000|.	0.64402|.	U|.	0.000006|.	T|T	0.39091|0.39091	0.1065|0.1065	L|L	0.27053|0.27053	0.805|0.805	0.36222|0.36222	D|D	0.852071|0.852071	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.38286|0.38286	-0.9668|-0.9668	10|6	0.21014|0.25751	T|T	0.42|0.34	.|.	5.4406|5.4406	0.16507|0.16507	0.1613:0.0:0.8387:0.0|0.1613:0.0:0.8387:0.0	.|.	700|.	Q9NT99|.	LRC4B_HUMAN|.	L|K	700|408	ENSP00000373853:F700L|.	ENSP00000373853:F700L|ENSP00000440583:Q408K	F|Q	-|-	3|1	2|0	LRRC4B|LRRC4B	55712682|55712682	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.902000|0.902000	0.28459|0.28459	1.465000|1.465000	0.48006|0.48006	0.455000|0.455000	0.32223|0.32223	TTC|CAA			0.711	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464907.1		NM_001080457		T	51020870	G	T	51020870	3	4	141	1	0	0	0	0	1	0	0	0	9023	1281	45	3	45	3	LRRC4B	19	51020870	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	12121371	51020870	8108113	64	10432											
NSFL1C	55968	mdanderson.org	37	chr20	1424505	1424505	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgaggataaagctggtGgcagccatggctggccgggc	8	7	17	9	1	1	1	1	1	0	0	1	2	1	2	2	6	2	3	2	6	2	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr20:1424505G>T	ENST00000216879.4	-	9	1869	c.1002C>A	c.(1000-1002)gcC>gcA	p.A334A	NSFL1C_ENST00000381658.4_Silent_p.A223A|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.A336A|NSFL1C_ENST00000353088.2_Silent_p.A303A|NSFL1C_ENST00000350991.4_Silent_p.A336A	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	334	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TAAAGCTGGTGGCAGCCATGG	0.567																																					p.A334A													.	.			0			c.C1002A												57	49	52					20																	1424505		2203	4300	6503	SO:0001819	synonymous_variant	55968	exon9			GCTGGTGGCAGCC	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.1002C>A	20.37:g.1424505G>T			42	0	0		46	0.07	3	NM_016143	215	0	0	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	CCDS13015.1																																																																																					0.567	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077525.2		NM_016143		T	1424505	G	T	1424505	2	4	141	1	0	0	0	0	0	0	0	1	10689	1335	47	3		3	NSFL1C	20	1424505	Silent	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		1424505	61601015	65	10433											
C20orf117	140710	broad.mit.edu;mdanderson.org	37	chr20	35438485	35438485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctgtcgtgggcctcaGccagcaccagctgcagctcc	6	6	14	15	1	1	0	1	0	0	0	3	1	2	1	4	3	5	5	4	3	0	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr20:35438485G>T	ENST00000357779.3	-	7	2095	c.1769C>A	c.(1768-1770)gCt>gAt	p.A590D	SOGA1_ENST00000456801.2_Missense_Mutation_p.A431D|SOGA1_ENST00000279034.6_Missense_Mutation_p.A590D|SOGA1_ENST00000237536.4_Missense_Mutation_p.A828D			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	590					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTGGGCCTCAGCCAGCACCAG	0.552																																					p.A828D													.	SOGA1	136		0			c.C2483A												21	23	22					20																	35438485		2042	4215	6257	SO:0001583	missense	140710	exon7			GCCTCAGCCAGCA	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1769C>A	20.37:g.35438485G>T	ENSP00000350424:p.Ala590Asp		27	0	0		28	0.21	6	NM_080627	0		0	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.255994	0.80246	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.26	5.26	0.73747	.	0.214357	0.40469	N	0.001097	T	0.40815	0.1132	N	0.08118	0	0.42359	D	0.992408	D	0.71674	0.998	P	0.62649	0.905	T	0.27872	-1.0061	10	0.15066	T	0.55	-14.742	17.7963	0.88572	0.0:0.0:1.0:0.0	.	590	O94964-4	.	D	828;590;431;590	ENSP00000237536:A828D;ENSP00000279034:A590D;ENSP00000413886:A431D;ENSP00000350424:A590D	ENSP00000237536:A828D	A	-	2	0	KIAA0889	34871899	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.215000	0.77966	2.735000	0.93741	0.561000	0.74099	GCT			0.552	SOGA1-201	KNOWN	basic	protein_coding	protein_coding				NM_199181		T	35438485	G	T	35438485	3	4	141	1	0	0	0	0	1	0	0	0	2085	971	34	2	2600	2	C20orf117	20	35438485	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	34013980	35438485	27587035	66	10434											
NFATC2	4773	mdanderson.org	37	chr20	50049146	50049146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgcggaactgctggcagGgagccatggtggccacgagg	7	5	18	11	3	0	0	0	0	0	0	0	3	0	2	3	6	4	2	3	6	1	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr20:50049146G>T	ENST00000396009.3	-	9	2399	c.2180C>A	c.(2179-2181)cCc>cAc	p.P727H	NFATC2_ENST00000371564.3_Missense_Mutation_p.P727H|NFATC2_ENST00000609943.1_Missense_Mutation_p.P707H|NFATC2_ENST00000610033.1_Missense_Mutation_p.P508H|NFATC2_ENST00000414705.1_Missense_Mutation_p.P707H|NFATC2_ENST00000609507.1_Missense_Mutation_p.P508H	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	727					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTGCTGGCAGGGAGCCATGGT	0.682																																					p.P727H													.	.			0			c.C2180A												23	28	26					20																	50049146		2202	4298	6500	SO:0001583	missense	4773	exon9			TGGCAGGGAGCCA	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.2180C>A	20.37:g.50049146G>T	ENSP00000379330:p.Pro727His		21	0	0		33	0.09	3	NM_012340	0		0	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749296	0.89753	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.19394	2.15;2.15;2.17	5.31	5.31	0.75309	.	0.235442	0.44483	D	0.000459	T	0.39886	0.1095	L	0.49778	1.585	0.48632	D	0.999685	D;D;D;D	0.76494	0.998;0.997;0.999;0.998	P;P;P;P	0.60345	0.832;0.817;0.873;0.786	T	0.17930	-1.0353	10	0.87932	D	0	-20.4008	18.9958	0.92812	0.0:0.0:1.0:0.0	.	707;707;727;727	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	727;727;707	ENSP00000360619:P727H;ENSP00000379330:P727H;ENSP00000396471:P707H	ENSP00000360619:P727H	P	-	2	0	NFATC2	49482553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.470000	0.97683	2.494000	0.84150	0.555000	0.69702	CCC			0.682	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000079730.2		NM_012340		T	50049146	G	T	50049146	3	4	141	1	0	0	0	0	1	0	0	0	10379	1232	43	3	653	3	NFATC2	20	50049146	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	14610661	50049146	12976374	67	10435											
DSCAM	1826	broad.mit.edu	37	chr21	41719815	41719815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacgctgcaggacaaggaaActtggctacccacgctgctt	10	8	10	13	2	1	0	1	0	0	0	1	2	1	2	1	3	4	5	1	3	3	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr21:41719815A>G	ENST00000400454.1	-	6	1469	c.992T>C	c.(991-993)gTt>gCt	p.V331A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	331	Ig-like C2-type 4.				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)				GGACAAGGAAACTTGGCTACC	0.483																																					p.V331A	Melanoma(134;970 1778 1785 21664 32388)												.	DSCAM	347		0			c.T992C												106	97	100					21																	41719815		1957	4161	6118	SO:0001583	missense	1826	exon6			AAGGAAACTTGGC	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.992T>C	21.37:g.41719815A>G	ENSP00000383303:p.Val331Ala		93	0	0		128	0.03	4	NM_001271534	0		0	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	9.251	1.040727	0.19669	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;D	0.83075	-1.05;-1.68	5.58	5.58	0.84498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74053	0.3666	L	0.33753	1.03	0.43377	D	0.995478	B	0.21905	0.062	B	0.23852	0.049	T	0.68573	-0.5373	10	0.07175	T	0.84	.	15.7461	0.77944	1.0:0.0:0.0:0.0	.	331	O60469	DSCAM_HUMAN	A	331;83	ENSP00000383303:V331A;ENSP00000385342:V83A	ENSP00000383303:V331A	V	-	2	0	DSCAM	40641685	1.000000	0.71417	0.986000	0.45419	0.961000	0.63080	7.460000	0.80816	2.111000	0.64477	0.533000	0.62120	GTT			0.483	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195029.1		NM_001389		G	41719815	A	G	41719815	3	3	141	1	0	0	0	0	1	0	0	0	4773	43	2	4	5158	4	DSCAM	21	41719815	Missense_Mutation	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10		41719815	6410080	68	10436											
ZNF280B	140883	mdanderson.org	37	chr22	22843071	22843071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtatgaacattatttgagGgtgtactttgctgagtattc	10	16	11	4	0	0	3	0	3	0	0	1	3	0	3	0	2	3	4	0	2	5	7			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr22:22843071G>T	ENST00000406426.1	-	4	1395	c.653C>A	c.(652-654)cCc>cAc	p.P218H	ZNF280B_ENST00000360412.2_Missense_Mutation_p.P218H			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	218					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.P218L(1)		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)		ATTATTTGAGGGTGTACTTTG	0.388																																					p.P218H													ZNF280B,NS,carcinoma,0,1	ZNF280B	0	1	1	Substitution - Missense(1)	lung(1)	c.C653A												121	114	116					22																	22843071		2203	4300	6503	SO:0001583	missense	140883	exon4			TTTGAGGGTGTAC	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.653C>A	22.37:g.22843071G>T	ENSP00000385998:p.Pro218His		117	0	0		140	0.04	5	NM_080764	0		0		Missense_Mutation	SNP	ENST00000406426.1	37	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	G	6.272	0.418322	0.11870	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.23147	1.92;1.92	4.43	2.33	0.28932	.	.	.	.	.	T	0.38772	0.1053	M	0.66939	2.045	0.26113	N	0.980659	D	0.71674	0.998	D	0.64877	0.93	T	0.22138	-1.0225	9	0.14656	T	0.56	-0.3109	6.6945	0.23191	0.2146:0.0:0.7854:0.0	.	218	Q86YH2	Z280B_HUMAN	H	218	ENSP00000385998:P218H;ENSP00000353586:P218H	ENSP00000353586:P218H	P	-	2	0	ZNF280B	21173071	0.419000	0.25449	0.650000	0.29550	0.150000	0.21749	0.455000	0.21843	0.618000	0.30179	0.655000	0.94253	CCC			0.388	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321170.2		NM_080764		T	22843071	G	T	22843071	3	4	141	1	0	0	0	0	1	0	0	0	17838	1232	43	3	982	3	ZNF280B	22	22843071	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		22843071	28461495	69	10437											
MMP11	4320	broad.mit.edu	37	chr22	24121476	24121476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacgcaggaagccccccggCctgccagcagcctcaggcct	7	3	11	20	2	1	0	1	0	0	0	1	1	1	1	8	3	4	2	8	3	1	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr22:24121476C>A	ENST00000215743.3	+	2	263	c.211C>A	c.(211-213)Cct>Act	p.P71T	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	71					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)	AGCCCCCCGGCCTGCCAGCAG	0.716																																					p.P71T													.	MMP11	53		0			c.C211A												12	14	13					22																	24121476		2201	4289	6490	SO:0001583	missense	4320	exon2			CCCCGGCCTGCCA		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.211C>A	22.37:g.24121476C>A	ENSP00000215743:p.Pro71Thr		37	0.027027027	1		72	0.13	9	NM_005940	0		0	Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.146839	0.37923	.	.	ENSG00000099953	ENST00000215743	T	0.10860	2.83	4.03	0.723	0.18231	.	0.915240	0.09390	N	0.808641	T	0.05318	0.0141	N	0.24115	0.695	0.09310	N	1	B	0.19817	0.039	B	0.14578	0.011	T	0.43032	-0.9416	10	0.02654	T	1	.	4.7355	0.12986	0.0:0.4036:0.3864:0.21	.	71	P24347	MMP11_HUMAN	T	71	ENSP00000215743:P71T	ENSP00000215743:P71T	P	+	1	0	MMP11	22451476	.	.	0.001000	0.08648	0.004000	0.04260	.	.	0.461000	0.27071	-0.688000	0.03733	CCT			0.716	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319891.2		NM_005940		A	24121476	C	A	24121476	3	1	141	1	0	0	0	0	1	0	0	0	9666	739	26	2	217	2	MMP11	22	24121476	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	1278405	24121476	27183090	70	10438											
MN1	4330	mdanderson.org	37	chr22	28195192	28195192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttcatgtaggggggcGcgtcgaaatgctgcagccgc	7	7	15	12	5	1	0	1	0	0	0	2	1	1	0	2	3	3	4	2	3	2	2	rs375740551		TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr22:28195192G>T	ENST00000302326.4	-	1	2294	c.1340C>A	c.(1339-1341)gCg>gAg	p.A447E		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	447					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTAGGGGGGCGCGTCGAAATG	0.647			T	ETV6	"AML, meningioma"																																p.A447E				Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	.	.			0			c.C1340A							G	GLU/ALA	1,4057		0,1,2028	15	19	18		1340	3.8	1	22		18	0,8342		0,0,4171	no	missense	MN1	NM_002430.2	107	0,1,6199	TT,TG,GG		0.0,0.0246,0.0081	possibly-damaging	447/1321	28195192	1,12399	2029	4171	6200	SO:0001583	missense	4330	exon1			GGGGGCGCGTCGA	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.1340C>A	22.37:g.28195192G>T	ENSP00000304956:p.Ala447Glu		41	0	0		42	0.07	3	NM_002430	0		0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475466	0.63737	2.46E-4	0.0	ENSG00000169184	ENST00000302326	T	0.54866	0.55	3.75	3.75	0.43078	.	1.217320	0.05531	N	0.563863	T	0.54663	0.1872	N	0.19112	0.55	0.37162	D	0.902647	D	0.60575	0.988	P	0.57204	0.815	T	0.52185	-0.8609	10	0.42905	T	0.14	-6.5381	11.3779	0.49739	0.0:0.0:1.0:0.0	.	447	Q10571	MN1_HUMAN	E	447	ENSP00000304956:A447E	ENSP00000304956:A447E	A	-	2	0	MN1	26525192	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.425000	0.59875	2.392000	0.81423	0.313000	0.20887	GCG			0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320737.1		NM_002430		T	28195192	G	T	28195192	3	4	141	1	0	0	0	0	1	0	0	0	9689	1087	38	1	2630	1	MN1	22	28195192	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	4073716	28195192	23109374	71	10439											
SYN3	8224	broad.mit.edu	37	chr22	32923915	32923915	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcataccttgcggaggTgggcgtggctggggctggcc	3	9	20	9	2	1	0	1	0	0	0	1	1	1	1	2	8	2	2	2	8	1	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr22:32923915T>G	ENST00000358763.2	-	12	1550	c.1308A>C	c.(1306-1308)ccA>ccC	p.P436P	SYN3_ENST00000332840.5_Silent_p.P436P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	436	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTTGCGGAGGTGGGCGTGGCT	0.582																																					p.P436P													.	SYN3	77		0			c.A1308C												26	25	25					22																	32923915		2201	4296	6497	SO:0001819	synonymous_variant	8224	exon11			CGGAGGTGGGCGT	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1308A>C	22.37:g.32923915T>G			120	0.1583333333	19		144	0.16	23	NM_133633	0		0	B1B1F9	Silent	SNP	ENST00000358763.2	37	CCDS13908.1																																																																																					0.582	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075892.4				G	32923915	T	G	32923915	2	3	141	1	0	0	0	0	0	0	0	1	15465	1683	59	4		4	SYN3	22	32923915	Silent	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10	4728723	32923915	18380651	72	10440											
CELSR1	9620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	46763694	46763694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggttcacagccagcagccCcagcagccaggtggcgctga	8	4	14	15	2	1	1	1	1	0	0	1	1	1	1	4	3	5	4	4	3	0	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chr22:46763694C>T	ENST00000262738.3	-	28	8010	c.8011G>A	c.(8011-8013)Ggg>Agg	p.G2671R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2671					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCAGCAGCCCCAGCAGCCAG	0.657											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G2671R													.	.			0			c.G8011A												39	35	36					22																	46763694		2199	4299	6498	SO:0001583	missense	9620	exon28			GCAGCCCCAGCAG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8011G>A	22.37:g.46763694C>T	ENSP00000262738:p.Gly2671Arg		75	0	0	941	107	0.24	26	NM_014246	4	0.5	2	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	c	32	5.143568	0.94603	.	.	ENSG00000075275	ENST00000262738	T	0.46451	0.87	4.94	4.94	0.65067	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000003	T	0.77772	0.4180	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86754	0.1962	10	0.87932	D	0	.	17.8334	0.88689	0.0:1.0:0.0:0.0	.	2671	Q9NYQ6	CELR1_HUMAN	R	2671	ENSP00000262738:G2671R	ENSP00000262738:G2671R	G	-	1	0	CELSR1	45142358	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.261000	0.78400	2.295000	0.77249	0.567000	0.79289	GGG			0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		T	46763694	C	T	46763694	3	4	141	1	0	0	0	0	1	0	0	0	3223	623	22	3	1065	3	CELSR1	22	46763694	Missense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	13839779	46763694	4540872	73	10441											
DMD	1756	broad.mit.edu	37	chrX	31462743	31462743	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaatttctcctcgaagtGcctgtgtgcaatagtcaaaa	11	11	9	10	2	2	0	1	0	1	0	4	1	2	0	2	0	2	2	2	0	6	2			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chrX:31462743G>T	ENST00000357033.4	-	60	9145	c.8939C>A	c.(8938-8940)gCa>gAa	p.A2980E	DMD_ENST00000378707.3_Splice_Site_p.A520E|DMD_ENST00000541735.1_Splice_Site_p.A520E|DMD_ENST00000359836.1_Splice_Site_p.A520E|DMD_ENST00000343523.2_Splice_Site_p.A520E|DMD_ENST00000378677.2_Splice_Site_p.A2976E|DMD_ENST00000474231.1_Splice_Site_p.A520E	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	2980					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)				TCCTCGAAGTGCCTGTGTGCA	0.448																																					p.A2980E													.	DMD	2127		0			c.C8939A												115	88	97					X																	31462743		2202	4300	6502	SO:0001630	splice_region_variant	1756	exon60			CGAAGTGCCTGTG	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.8938-1C>A	X.37:g.31462743G>T			35	0.0571428571	2		63	0.11	7	NM_004006	4	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254385	0.39896	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.64	2.89	0.33648	.	0.243724	0.20272	U	0.095624	T	0.43478	0.1249	L	0.29908	0.895	0.31505	N	0.664323	D;B;B;B;B;B;B;B;B;B;B	0.55385	0.971;0.022;0.153;0.022;0.022;0.001;0.014;0.014;0.016;0.013;0.138	P;B;B;B;B;B;B;B;B;B;B	0.56042	0.79;0.027;0.153;0.012;0.012;0.005;0.046;0.046;0.012;0.007;0.073	T	0.40515	-0.9559	10	0.11794	T	0.64	.	9.2818	0.37733	0.3147:0.0:0.6853:0.0	.	2972;2980;2976;1639;1636;520;520;520;520;520;2857	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	E	2972;1639;1636;676;2976;2980;520;520;2980;2857;520;520;520	ENSP00000350765:A676E;ENSP00000367948:A2976E;ENSP00000354923:A2980E;ENSP00000352894:A520E;ENSP00000340057:A520E;ENSP00000367979:A520E;ENSP00000444119:A520E;ENSP00000417123:A520E	ENSP00000340057:A520E	A	-	2	0	DMD	31372664	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	1.836000	0.39191	0.547000	0.28938	0.594000	0.82650	GCA			0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056182.2		NM_004006	Missense_Mutation	T	31462743	G	T	31462743	5	4	141	1	0	0	0	0	0	0	1	0	4585	1333	46	2	2312	2	DMD	23	31462743	Splice_Site	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10		31462743	123807817	74	10442											
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	chrX	32663131	32663131	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacatcattagaaatctCtccttgtgcttgcaatgtgt	9	16	6	10	0	2	1	1	0	1	1	5	1	4	1	2	0	2	2	2	0	3	4			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chrX:32663131C>A	ENST00000357033.4	-	10	1305	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E359*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E363*	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	367					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)				TTAGAAATCTCTCCTTGTGCT	0.363																																					p.E367X													.	.			0			c.G1099T												224	190	202					X																	32663131		2202	4300	6502	SO:0001587	stop_gained	1756	exon10			AAATCTCTCCTTG	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.1099G>T	X.37:g.32663131C>A	ENSP00000354923:p.Glu367*		74	0	0		122	0.43	52	NM_004006	6	0.33	2	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	39	7.608102	0.98387	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.52	5.52	0.82312	.	0.192432	0.24391	U	0.038930	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.1871	0.54245	0.0:0.9198:0.0:0.0802	.	.	.	.	X	359;363;367;367;244;359	.	ENSP00000288447:E359X	E	-	1	0	DMD	32573052	0.966000	0.33281	1.000000	0.80357	0.976000	0.68499	1.971000	0.40530	2.458000	0.83093	0.600000	0.82982	GAG			0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056182.2		NM_004006		A	32663131	C	A	32663131	4	1	141	1	0	0	0	0	0	1	0	0	4585	922	32	3	10481	3	DMD	23	32663131	Nonsense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	1200388	32663131	122607429	75	10443											
RBM3	5935	broad.mit.edu	37	chrX	48434994	48434994	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagactataatggcaggTgggtagccaaagggctggga	12	6	16	7	0	0	1	0	0	0	1	0	3	0	2	2	5	1	3	2	5	4	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chrX:48434994T>G	ENST00000376759.3	+	5	476		c.e5+2		RBM3_ENST00000466764.1_Splice_Site|RBM3_ENST00000430348.2_Splice_Site|RBM3_ENST00000354480.2_Splice_Site|RBM3_ENST00000376755.1_Splice_Site|AC115618.1_ENST00000376775.2_5'Flank	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3						positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)	p.?(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TAATGGCAGGTGGGTAGCCAA	0.517																																					.													.	RBM3	20		1	Unknown(1)	ovary(1)	c.413+2T>G												59	56	57					X																	48434994		2193	4272	6465	SO:0001630	splice_region_variant	5935	exon5			GGCAGGTGGGTAG	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.413+2T>G	X.37:g.48434994T>G			24	0.1666666667	4		42	0.17	7	NM_006743	0		0		Splice_Site	SNP	ENST00000376759.3	37	CCDS14301.1	.	.	.	.	.	.	.	.	.	.	t	11.97	1.798592	0.31777	.	.	ENSG00000102317	ENST00000376759;ENST00000430348;ENST00000376755;ENST00000354480	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3004	0.43648	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM3	48319938	1.000000	0.71417	0.999000	0.59377	0.387000	0.30353	2.025000	0.41059	1.792000	0.52537	0.481000	0.45027	.			0.517	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060755.1		NM_006743	Intron	G	48434994	T	G	48434994	5	3	141	1	0	0	0	0	0	0	1	0	13152	1710	59	4	429	4	RBM3	23	48434994	Splice_Site	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10	15771863	48434994	106835566	76	10444											
HUWE1	10075	broad.mit.edu;ucsc.edu;mdanderson.org	37	chrX	53585984	53585984	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaactttgcattcttctgtCcagcgggtcagggctgtggg	6	12	14	9	1	3	1	1	0	2	1	4	1	4	1	1	3	3	2	1	3	1	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chrX:53585984C>T	ENST00000342160.3	-	57	8410	c.7953G>A	c.(7951-7953)tgG>tgA	p.W2651*	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Nonsense_Mutation_p.W2651*|MIR98_ENST00000606724.1_RNA			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2651					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						ATTCTTCTGTCCAGCGGGTCA	0.522																																					p.W2651X													.	HUWE1	724		0			c.G7953A												48	33	38					X																	53585984		2192	4272	6464	SO:0001587	stop_gained	10075	exon58			TTCTGTCCAGCGG	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.7953G>A	X.37:g.53585984C>T	ENSP00000340648:p.Trp2651*		119	0.0084033613	1		169	0.4	68	NM_031407	3	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	52|52	19.764200|19.764200	0.99923|0.99923	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.44052|.	0.1275|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41910|.	-0.9482|.	3|.	.|0.02654	.|T	.|1	.|.	16.9394|16.9394	0.86213|0.86213	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	N|X	1685|2651	.|.	.|ENSP00000262854:W2651X	D|W	-|-	1|3	0|0	HUWE1|HUWE1	53602709|53602709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.059000|7.059000	0.76684|0.76684	2.261000|2.261000	0.74972|0.74972	0.513000|0.513000	0.50165|0.50165	GAC|TGG			0.522	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056766.1		XM_497119		T	53585984	C	T	53585984	4	4	141	1	0	0	0	0	0	1	0	0	7476	856	30	3	5279	3	HUWE1	23	53585984	Nonsense_Mutation	SNP	C	TCGA-ZM-AA06-01A-12D-A435-10	5150990	53585984	101684576	77	10445											
FGD1	2245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	54476099	54476099	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggggactcttactggagagTtgggtggggtgtcttcatct	5	13	16	7	1	4	1	1	0	3	1	4	3	4	2	0	6	1	1	0	6	1	3			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chrX:54476099T>A	ENST00000375135.3	-	14	2874	c.2141A>T	c.(2140-2142)aAc>aTc	p.N714I		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	714					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						TACTGGAGAGTTGGGTGGGGT	0.537																																					p.N714I													.	.			0			c.A2141T												137	137	137					X																	54476099		2203	4300	6503	SO:0001583	missense	2245	exon14			GGAGAGTTGGGTG	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.2141A>T	X.37:g.54476099T>A	ENSP00000364277:p.Asn714Ile		57	0	0		57	0.35	20	NM_004463	22	0.36	8	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	T	9.026	0.986147	0.18889	.	.	ENSG00000102302	ENST00000375135	T	0.65732	-0.17	5.56	4.19	0.49359	Zinc finger, FYVE/PHD-type (1);	0.106962	0.41712	D	0.000834	T	0.42471	0.1204	N	0.19112	0.55	0.36187	D	0.849831	B;P	0.41848	0.172;0.763	B;B	0.35114	0.05;0.196	T	0.56836	-0.7913	10	0.52906	T	0.07	-8.5395	10.0778	0.42370	0.0:0.0981:0.0:0.9019	.	472;714	B4DS99;P98174	.;FGD1_HUMAN	I	714	ENSP00000364277:N714I	ENSP00000364277:N714I	N	-	2	0	FGD1	54492824	1.000000	0.71417	0.989000	0.46669	0.261000	0.26267	3.734000	0.55037	1.862000	0.54008	0.417000	0.27973	AAC			0.537	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056801.1		NM_004463		A	54476099	T	A	54476099	3	1	141	1	0	0	0	0	1	0	0	0	5845	1725	60	5	764	5	FGD1	23	54476099	Missense_Mutation	SNP	T	TCGA-ZM-AA06-01A-12D-A435-10	890115	54476099	100794461	78	10446											
AWAT1	158833	mdanderson.org	37	chrX	69458085	69458085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctctgtgagccagccaGccatcaactatctgctgagc	8	10	10	13	0	3	2	1	2	2	0	3	2	3	2	3	0	7	2	3	0	2	1			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chrX:69458085G>T	ENST00000374521.3	+	5	525	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	162					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GAGCCAGCCAGCCATCAACTA	0.527																																					p.A162S													.	.			0			c.G484T												110	89	96					X																	69458085		2203	4300	6503	SO:0001583	missense	158833	exon5			CAGCCAGCCATCA	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.484G>T	X.37:g.69458085G>T	ENSP00000363645:p.Ala162Ser		26	0	0		51	0.06	3	NM_001013579	0		0	Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	G	0.140	-1.102892	0.01828	.	.	ENSG00000204195	ENST00000374521	T	0.11063	2.81	4.93	-2.83	0.05769	.	0.492682	0.19321	N	0.117139	T	0.02230	0.0069	N	0.01473	-0.845	0.21105	N	0.999789	B	0.09022	0.002	B	0.12837	0.008	T	0.40040	-0.9584	10	0.02654	T	1	-3.8467	5.2567	0.15552	0.2438:0.0:0.2704:0.4858	.	162	Q58HT5	AWAT1_HUMAN	S	162	ENSP00000363645:A162S	ENSP00000363645:A162S	A	+	1	0	AWAT1	69374810	0.000000	0.05858	0.030000	0.17652	0.677000	0.39632	-0.083000	0.11286	-0.492000	0.06687	0.600000	0.82982	GCC			0.527	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057066.3		NM_001013579		T	69458085	G	T	69458085	3	4	141	1	0	0	0	0	1	0	0	0	1234	971	34	2	502	2	AWAT1	23	69458085	Missense_Mutation	SNP	G	TCGA-ZM-AA06-01A-12D-A435-10	14981986	69458085	85812475	79	10447											
PNMA3	29944	broad.mit.edu	37	chrX	152226011	152226011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaggtgcccgagggggAaaagaggcggaggctgatgg	9	4	22	6	2	0	2	0	1	0	1	0	5	0	4	1	8	1	2	1	8	2	0			TCGA-ZM-AA06-01A-12D-A435-10	TCGA-ZM-AA06-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dc9fe22-781b-41a9-9eda-d7faaa6af579	8eeb0d34-42a4-47a8-9857-139c9c599b8d	g.chrX:152226011A>G	ENST00000370264.4	+	1	625	c.599A>G	c.(598-600)gAa>gGa	p.E200G	PNMA3_ENST00000370265.4_Missense_Mutation_p.E200G|PNMA3_ENST00000447306.1_Missense_Mutation_p.E200G			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	200					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)					cccgagggggaaaagaggcgg	0.587																																					p.E200G													.	PNMA3	81		0			c.A599G												65	64	64					X																	152226011		2203	4300	6503	SO:0001583	missense	29944	exon2			AGGGGGAAAAGAG	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.599A>G	X.37:g.152226011A>G	ENSP00000359286:p.Glu200Gly		48	0.2708333333	13		55	0.31	17	NM_013364	3	0	0	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	a	13.68	2.310689	0.40895	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.13538	2.58;2.58;2.58	1.98	1.98	0.26296	.	.	.	.	.	T	0.31827	0.0809	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04693	-1.0933	9	0.87932	D	0	.	5.4244	0.16417	1.0:0.0:0.0:0.0	.	200	Q9UL41	PNMA3_HUMAN	G	200	ENSP00000359288:E200G;ENSP00000407642:E200G;ENSP00000359286:E200G	ENSP00000359286:E200G	E	+	2	0	PNMA3	151976667	0.302000	0.24454	0.007000	0.13788	0.009000	0.06853	2.310000	0.43708	1.055000	0.40461	0.378000	0.23410	GAA			0.587	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060946.2		NM_013364		G	152226011	A	G	152226011	3	3	141	1	0	0	0	0	1	0	0	0	12172	246	9	4	601	4	PNMA3	23	152226011	Missense_Mutation	SNP	A	TCGA-ZM-AA06-01A-12D-A435-10	82767926	152226011	3044549	80	10448											
VPS13D	55187	mdanderson.org	37	chr1	12304672	12304672	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggattgtggagaatattGaagtaagtcctgctgacttt	12	13	11	5	0	0	3	0	2	0	1	1	5	1	4	1	2	1	2	1	2	5	5			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr1:12304672G>T	ENST00000358136.3	+	5	575	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E149*	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)		GGAGAATATTGAAGTAAGTCC	0.423																																					p.E149X													.	.			0			c.G445T												120	113	115					1																	12304672		2203	4300	6503	SO:0001587	stop_gained	55187	exon5			AATATTGAAGTAA	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.445G>T	1.37:g.12304672G>T	ENSP00000350854:p.Glu149*		60	0	0		89	0.06	5	NM_015378	0		0		Nonsense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	39	7.341433	0.98224	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.6045	0.91262	0.0:0.0:1.0:0.0	.	.	.	.	X	149	.	ENSP00000348666:E149X	E	+	1	0	VPS13D	12227259	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.040000	0.93783	2.708000	0.92522	0.467000	0.42956	GAA			0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000036897.2		NM_015378		T	12304672	G	T	12304672	4	4	142	1	0	0	0	0	0	1	0	0	17216	1291	45	3	459	3	VPS13D	1	12304672	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		12304672	236945949	1	10449											
ATP13A2	23400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	17312499	17312499	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctacactgacagcagcactGaggggagctgggggctgcca	9	5	16	11	0	0	2	0	2	0	0	0	3	0	3	1	4	5	5	1	4	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr1:17312499G>A	ENST00000326735.8	-	0	3793				ATP13A2_ENST00000341676.5_Missense_Mutation_p.S1153L|ATP13A2_ENST00000452699.1_3'UTR|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2						cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAGCAGCACTGAGGGGAGCTG	0.597																																					p.S1153L													.	.			0			c.C3458T												12	13	13					1																	17312499		691	1589	2280	SO:0001624	3_prime_UTR_variant	23400	exon27			AGCACTGAGGGGA	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.*217C>T	1.37:g.17312499G>A			54	0	0		42	0.24	10	NM_001141974	181	0.19	34	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162011	0.38217	.	.	ENSG00000159363	ENST00000341676;ENST00000502418	D;D	0.96940	-3.29;-4.18	4.25	2.29	0.28610	.	.	.	.	.	D	0.88880	0.6557	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.80964	-0.1147	9	0.87932	D	0	.	4.2141	0.10526	0.2129:0.1937:0.5935:0.0	.	1153	Q5JXY1	.	L	1153;393	ENSP00000341115:S1153L;ENSP00000423065:S393L	ENSP00000341115:S1153L	S	-	2	0	ATP13A2	17185086	0.002000	0.14202	0.001000	0.08648	0.020000	0.10135	0.579000	0.23788	0.398000	0.25338	0.467000	0.42956	TCA			0.597	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000006617.1		NM_022089		A	17312499	G	A	17312499	1	1	142	0	1	0	0	0	0	0	0	0	1124	1294	45	3		3	ATP13A2	1	17312499	3'UTR	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	5007827	17312499	231938122	2	10450											
CELA3A	10136	ucsc.edu	37	chr1	22329543	22329543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttccagccgcgttgtcCatggtgaggatgcggtcccc	5	10	12	14	3	1	1	0	1	1	0	4	2	4	2	5	3	2	1	5	3	0	2	rs7519660	byFrequency	TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr1:22329543C>A	ENST00000290122.3	+	2	110	c.91C>A	c.(91-93)Cat>Aat	p.H31N	CELA3A_ENST00000374663.1_Missense_Mutation_p.H31N|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	31	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		H -> N (in dbSNP:rs7519660).		cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCGCGTTGTCCATGGTGAGGA	0.592													A|||	396	0.0790735	0.2284	0.0144	5008	,	,		15421	0.0526		0.0109	False		,,,				2504	0.0204				p.H31N													.	CELA3A	35		0			c.C91A												73	101	92					1																	22329543		1968	4276	6244	SO:0001583	missense	10136	exon2			GTTGTCCATGGTG	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.91C>A	1.37:g.22329543C>A	ENSP00000290122:p.His31Asn		54	0.0925925926	5		39	0.26	10	NM_005747	0		0	B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	212	0.09706959706959707	84	0.17073170731707318	21	0.058011049723756904	80	0.13986013986013987	27	0.03562005277044855	c	5.129	0.209475	0.09757	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	T;D	0.91894	2.48;-2.93	3.32	0.86	0.19042	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.00356	0.0011	N	0.00131	-2.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32771	-0.9894	8	0.16896	T	0.51	-21.4742	8.6215	0.33864	0.8059:0.1941:0.0:0.0	rs7519660;rs57431901	31	P09093	CEL3A_HUMAN	N	31;31;47	ENSP00000290122:H31N;ENSP00000363795:H31N	ENSP00000290122:H31N	H	+	1	0	CELA3A	22202130	0.488000	0.25996	0.780000	0.31762	0.503000	0.33858	1.503000	0.35715	0.059000	0.16252	-2.520000	0.00184	CAT			0.592	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007791.1		NM_005747		A	22329543	C	A	22329543	3	1	142	1	0	0	0	0	1	0	0	0	3215	594	21	3	97	3	CELA3A	1	22329543	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	5017044	22329543	226921078	3	10451											
RSPO1	284654	mdanderson.org	37	chr1	38078478	38078478	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtcccttgctgctgctgCtgttgctgccccttgcgtct	1	15	10	15	1	1	0	0	0	1	0	2	0	2	0	3	0	7	6	3	0	0	3			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr1:38078478C>T	ENST00000401069.1	-	7	1453	c.741G>A	c.(739-741)caG>caA	p.Q247Q	RSPO1_ENST00000401068.1_Silent_p.Q247Q|RSPO1_ENST00000401070.1_Silent_p.Q184Q|RSPO1_ENST00000356545.2_Silent_p.Q247Q|RSPO1_ENST00000373059.1_Silent_p.Q220Q|RSPO1_ENST00000401071.2_Silent_p.Q184Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	247					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCTGCTGCTGTTGCTGCC	0.637																																					p.Q247Q	GBM(122;680 2230 27822 42821)												.	.			0			c.G741A												82	92	88					1																	38078478		2182	4271	6453	SO:0001819	synonymous_variant	284654	exon7			CTGCTGCTGTTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.741G>A	1.37:g.38078478C>T			39	0	0		39	0.08	3	NM_001242908	0		0	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	ENST00000401069.1	37	CCDS41304.1																																																																																					0.637	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012477.2		NM_173640		T	38078478	C	T	38078478	2	4	142	1	0	0	0	0	0	0	0	1	13732	796	28	2		2	RSPO1	1	38078478	Silent	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	15748935	38078478	211172143	4	10452											
C1orf56	54964	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr1	151020692	151020701	+	Frame_Shift_Del	DEL	GCTTCCCAGT	GCTTCCCAGT	-																															aaggatagcaccagcagagaGcttcccagtgcgactcccaa																										TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	GCTTCCCAGT	GCTTCCCAGT					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr1:151020692_151020701delGCTTCCCAGT	ENST00000368926.5	+	1	477_486	c.369_378delGCTTCCCAGT	c.(367-378)gagcttcccagtfs	p.ELPS123fs		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	123						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)			CCAGCAGAGAGCTTCCCAGTGCGACTCCCA	0.571																																					p.123_126del	GBM(146;891 3320 6873)												.	C1orf56	25		0			c.368_377del																																									SO:0001589	frameshift_variant	54964	exon1			CAGAGAGCTTCCC	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.369_378delGCTTCCCAGT	1.37:g.151020692_151020701delGCTTCCCAGT	ENSP00000357922:p.Glu123fs		72	0	0		59	0.49	29	NM_017860	2	0	0	B2RDU8|Q9NWZ4	Frame_Shift_Del	DEL	ENST00000368926.5	37	CCDS980.1																																																																																					0.571	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085101.1		NM_017860		-	151020701	GCTTCCCAGT	-	151020692	7	5	142	1	0	1	0	1	0	0	0	0	2050	962	34	0	371	0	C1orf56	1	151020692	Frame_Shift_Del	DEL	GCTTCCCAGT	TCGA-ZM-AA0B-01A-11D-A435-10	112942214	151020692	98229929	5	10453											
C1orf125	126859	broad.mit.edu	37	chr1	179504046	179504046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagaagaagaacaacaaGaagaagaagaagtcaggtca	24	2	11	4	0	2	8	2	0	0	8	2	8	2	8	0	1	2	0	0	1	11	0			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr1:179504046G>C	ENST00000367618.3	+	25	3367	c.2980G>C	c.(2980-2982)Gaa>Caa	p.E994Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	994	Glu-rich.							p.E994Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaacaacaagaagaagaaga	0.328																																					p.E994Q													AXDND1,caecum,carcinoma,0,2	AXDND1	142	2	1	Substitution - Missense(1)	large_intestine(1)	c.G2980C												50	54	53					1																	179504046		2135	4283	6418	SO:0001583	missense	126859	exon25			CAACAAGAAGAAG	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2980G>C	1.37:g.179504046G>C	ENSP00000356590:p.Glu994Gln		160	0	0		215	0.03	6	NM_144696	8	0	0	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266099	0.23136	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.18657	2.2;2.21	4.81	4.81	0.61882	.	0.325544	0.22135	N	0.064137	T	0.23572	0.0570	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.982;0.994	P;P	0.56960	0.709;0.81	T	0.01330	-1.1383	10	0.21014	T	0.42	-2.7717	13.5575	0.61768	0.0:0.0:1.0:0.0	.	878;994	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	994;878;854	ENSP00000356590:E994Q;ENSP00000391716:E854Q	ENSP00000353471:E878Q	E	+	1	0	AXDND1	177770669	0.000000	0.05858	0.079000	0.20413	0.028000	0.11728	0.055000	0.14229	2.655000	0.90218	0.530000	0.56133	GAA			0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085312.1		NM_144696		C	179504046	G	C	179504046	3	2	142	1	0	0	0	0	1	0	0	0	1995	943	33	5	3074	5	C1orf125	1	179504046	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	28483354	179504046	69746575	6	10454											
PXDN	7837	mdanderson.org	37	chr2	1653131	1653131	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgctcgtcgggtgtgacGgtctccgtcccgatcagggt	5	10	14	12	5	2	1	1	1	1	0	6	2	3	1	2	3	2	1	2	3	1	0			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr2:1653131G>T	ENST00000252804.4	-	17	2471	c.2421C>A	c.(2419-2421)acC>acA	p.T807T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	807					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGGTGTGACGGTCTCCGTCC	0.662																																					p.T807T													.	.			0			c.C2421A												59	70	66					2																	1653131		2172	4270	6442	SO:0001819	synonymous_variant	7837	exon17			TGTGACGGTCTCC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2421C>A	2.37:g.1653131G>T			69	0	0		53	0.06	3	NM_012293	0		0	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1																																																																																					0.662	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322505.1		XM_056455		T	1653131	G	T	1653131	2	4	142	1	0	0	0	0	0	0	0	1	12870	1103	39	1		1	PXDN	2	1653131	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		1653131	241546242	7	10455											
ATP6V1C2	245973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	10908882	10908882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggacctgaagtcccgaaCggccgcctacaacactctga	11	6	10	14	3	1	2	0	2	1	0	2	5	2	3	4	2	3	0	4	2	4	1	rs201753402		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr2:10908882C>T	ENST00000272238.4	+	6	525	c.416C>T	c.(415-417)aCg>aTg	p.T139M	RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.T139M	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	139					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)			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)		AAGTCCCGAACGGCCGCCTAC	0.532													C|||	1	0.000199681	0	0	5008	,	,		17475	0		0.001	False		,,,				2504	0				p.T139M	NSCLC(188;1042 2136 10807 16813 47705)												.	.			0			c.C416T												67	73	71					2																	10908882		2203	4300	6503	SO:0001583	missense	245973	exon6			CCCGAACGGCCGC	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.416C>T	2.37:g.10908882C>T	ENSP00000272238:p.Thr139Met		102	0	0		55	0.16	9	NM_001039362	0		0	Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	CCDS42653.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.752	0.507554	0.12883	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.43294	0.95;0.95	5.65	1.87	0.25490	.	0.434585	0.25272	N	0.031873	T	0.31949	0.0813	L	0.41961	1.31	0.20196	N	0.999927	B;B	0.18310	0.027;0.01	B;B	0.13407	0.005;0.009	T	0.23261	-1.0193	10	0.49607	T	0.09	-9.634	8.6486	0.34020	0.0:0.6879:0.0:0.3121	.	139;139	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	M	139	ENSP00000272238:T139M;ENSP00000371077:T139M	ENSP00000272238:T139M	T	+	2	0	ATP6V1C2	10826333	0.024000	0.19004	0.002000	0.10522	0.009000	0.06853	1.528000	0.35985	0.350000	0.24002	0.655000	0.94253	ACG	0		0.532	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000323555.1		NM_144583		T	10908882	C	T	10908882	3	4	142	1	0	0	0	0	1	0	0	0	1181	536	19	1	434	1	ATP6V1C2	2	10908882	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	9255751	10908882	232290491	8	10456											
DYNC2LI1	51626	mdanderson.org	37	chr2	44028793	44028793	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcaaatcaatatgtgtGgatcagaataaaccgctgtt	14	11	9	7	2	2	1	2	0	0	1	2	2	2	2	1	1	2	4	1	1	7	4			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr2:44028793G>T	ENST00000260605.8	+	10	847	c.747G>T	c.(745-747)gtG>gtT	p.V249V	DYNC2LI1_ENST00000605786.1_Silent_p.V250V|DYNC2LI1_ENST00000443170.3_Silent_p.V123V	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	249					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAATATGTGTGGATCAGAATA	0.333																																					p.V250V													.	.			0			c.G750T												115	112	113					2																	44028793		2203	4300	6503	SO:0001819	synonymous_variant	51626	exon10			ATGTGTGGATCAG		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"Cytoplasmic dyneins"	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.747G>T	2.37:g.44028793G>T			63	0	0		48	0.06	3	NM_001193464	28	0	0	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Silent	SNP	ENST00000260605.8	37	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098543	0.20552	.	.	ENSG00000138036	ENST00000378587	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	T	0.64735	0.2625	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61734	-0.7002	4	.	.	.	-12.7159	12.6157	0.56576	0.0747:0.0:0.9253:0.0	.	.	.	.	L	233	.	.	W	+	2	0	DYNC2LI1	43882297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.693000	0.54735	2.793000	0.96121	0.655000	0.94253	TGG			0.333	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000250536.2		NM_016008		T	44028793	G	T	44028793	2	4	142	1	0	0	0	0	0	0	0	1	4852	1335	47	3		3	DYNC2LI1	2	44028793	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	33119911	44028793	199170580	9	10457											
SMYD1	150572	mdanderson.org	37	chr2	88367450	88367450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaaaggaaggggtctgaagGccaccaaggagttctgggct	11	6	16	8	0	2	1	0	1	2	0	2	3	2	3	2	6	0	3	2	6	4	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr2:88367450G>T	ENST00000419482.2	+	1	152	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	SMYD1_ENST00000438570.1_Missense_Mutation_p.A23S|SMYD1_ENST00000444564.2_Missense_Mutation_p.A23S	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	23	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGGTCTGAAGGCCACCAAGGA	0.527																																					p.A23S													.	.			0			c.G67T												206	230	222					2																	88367450		2203	4300	6503	SO:0001583	missense	150572	exon1			CTGAAGGCCACCA	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.67G>T	2.37:g.88367450G>T	ENSP00000393453:p.Ala23Ser		137	0	0		74	0.05	4	NM_198274	0		0	A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852664	0.91355	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	D;D;T	0.90844	-2.74;-2.74;1.53	5.85	4.04	0.47022	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	L	0.58354	1.805	0.44214	D	0.997041	P;P	0.46512	0.879;0.862	P;P	0.56916	0.809;0.781	D	0.91185	0.4979	10	0.39692	T	0.17	-15.2937	12.3392	0.55085	0.1388:0.0:0.8612:0.0	.	23;23	Q8NB12;C9JUP3	SMYD1_HUMAN;.	S	23	ENSP00000393453:A23S;ENSP00000407888:A23S;ENSP00000387482:A23S	ENSP00000393453:A23S	A	+	1	0	SMYD1	88148565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.720000	0.74723	1.465000	0.48006	0.655000	0.94253	GCC			0.527	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338229.2		XM_097915		T	88367450	G	T	88367450	3	4	142	1	0	0	0	0	1	0	0	0	14844	1203	42	2	69	2	SMYD1	2	88367450	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	44338657	88367450	154831923	10	10458											
C2orf24	27013	mdanderson.org	37	chr2	220040955	220040955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgcctaacctgccaccggGctggagagctcctccaggct	7	7	11	16	1	0	1	0	0	0	1	2	2	2	1	6	3	4	3	6	3	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr2:220040955G>T	ENST00000409789.1	-	3	595	c.168C>A	c.(166-168)agC>agA	p.S56R	CNPPD1_ENST00000360507.5_Missense_Mutation_p.S56R|FAM134A_ENST00000430297.2_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	56					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CTGCCACCGGGCTGGAGAGCT	0.572																																					p.S56R													.	.			0			c.C168A												61	61	61					2																	220040955		2203	4300	6503	SO:0001583	missense	27013	exon2			CACCGGGCTGGAG	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 24"	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.168C>A	2.37:g.220040955G>T	ENSP00000386277:p.Ser56Arg		57	0	0		47	0.06	3	NM_015680	32	0	0	B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200071	0.58126	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	T;T;T	0.32988	2.37;2.37;1.43	4.54	3.65	0.41850	.	0.136996	0.64402	D	0.000003	T	0.19805	0.0476	L	0.27053	0.805	0.80722	D	1	B	0.26744	0.158	B	0.26770	0.073	T	0.05354	-1.0890	10	0.22109	T	0.4	-21.6505	10.2172	0.43175	0.1628:0.0:0.8372:0.0	.	56	Q9BV87	CNPD1_HUMAN	R	56	ENSP00000353698:S56R;ENSP00000386277:S56R;ENSP00000410109:S56R	ENSP00000353698:S56R	S	-	3	2	CNPPD1	219749199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.949000	0.40313	1.241000	0.43820	0.655000	0.94253	AGC			0.572	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336220.1		NM_015680		T	220040955	G	T	220040955	3	4	142	1	0	0	0	0	1	0	0	0	2161	1194	42	2	1092	2	C2orf24	2	220040955	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	131673505	220040955	23158418	11	10459											
OSTalpha	200931	mdanderson.org	37	chr3	195955103	195955103	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtccacacaggcccctgCtgctgctgctgcccctgctg	4	9	11	17	0	0	0	0	0	0	0	1	0	1	0	5	2	6	5	5	2	0	0			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr3:195955103C>A	ENST00000296327.5	+	5	689	c.480C>A	c.(478-480)tgC>tgA	p.C160*		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	160	Poly-Cys.				bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	CAGGCCCctgctgctgctgct	0.662																																					p.C160X													.	.			0			c.C480A												82	81	81					3																	195955103		2203	4300	6503	SO:0001587	stop_gained	200931	exon5			CCCCTGCTGCTGC		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.480C>A	3.37:g.195955103C>A	ENSP00000296327:p.Cys160*		32	0	0		29	0.1	3	NM_152672	1	0	0	Q6ZMC7	Nonsense_Mutation	SNP	ENST00000296327.5	37	CCDS3314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.072914|4.072914	0.76415|0.76415	.|.	.|.	ENSG00000163959|ENSG00000163959	ENST00000428985|ENST00000296327	.|.	.|.	.|.	5.5|5.5	2.68|2.68	0.31781|0.31781	.|.	.|0.000000	.|0.53938	.|D	.|0.000045	T|.	0.29588|.	0.0738|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13548|.	-1.0505|.	4|.	.|0.02654	.|T	.|1	-22.3139|-22.3139	9.0682|9.0682	0.36475|0.36475	0.0:0.7099:0.0:0.2901|0.0:0.7099:0.0:0.2901	.|.	.|.	.|.	.|.	D|X	173|160	.|.	.|ENSP00000296327:C160X	A|C	+|+	2|3	0|2	AC069257.9|AC069257.9	197439500|197439500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.753000|0.753000	0.42808|0.42808	1.296000|1.296000	0.33389|0.33389	0.868000|0.868000	0.35678|0.35678	-0.136000|-0.136000	0.14681|0.14681	GCT|TGC			0.662	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341253.1		NM_152672		A	195955103	C	A	195955103	4	1	142	1	0	0	0	0	0	1	0	0	11317	805	28	2	498	2	OSTalpha	3	195955103	Nonsense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10		195955103	2067327	12	10460											
PPA2	27068	mdanderson.org	37	chr4	106367654	106367654	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattcattggctccttggtGgcaatctaagcaaatcacag	11	11	10	9	0	3	0	2	0	1	0	4	1	4	1	1	4	1	3	1	4	3	4	rs552337598		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr4:106367654G>T	ENST00000341695.5	-	5	357	c.327C>A	c.(325-327)gcC>gcA	p.A109A	PPA2_ENST00000357415.4_Silent_p.A124A|PPA2_ENST00000310267.7_Silent_p.A30A|PPA2_ENST00000354147.3_Intron|PPA2_ENST00000348706.5_Silent_p.A109A|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000380004.2_Silent_p.A91A|PPA2_ENST00000432483.2_Intron	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	109					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		GCTCCTTGGTGGCAATCTAAG	0.343													G|||	1	0.000199681	0	0	5008	,	,		17894	0.001		0	False		,,,				2504	0				p.A109A													.	.			0			c.C327A												78	80	79					4																	106367654		2203	4300	6503	SO:0001819	synonymous_variant	27068	exon5			CTTGGTGGCAATC		CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.327C>A	4.37:g.106367654G>T			46	0	0		20	0.1	2	NM_176869	3	0	0	B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Silent	SNP	ENST00000341695.5	37	CCDS3667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.425|7.425	0.637504|0.637504	0.14386|0.14386	.|.	.|.	ENSG00000138777|ENSG00000138777	ENST00000515567|ENST00000508518	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|.	.|.	.|.	.|.	T|T	0.68824|0.68824	0.3043|0.3043	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67753|0.67753	-0.5589|-0.5589	4|4	.|.	.|.	.|.	-16.8137|-16.8137	13.4164|13.4164	0.60972|0.60972	0.0:0.0:0.8429:0.1571|0.0:0.0:0.8429:0.1571	.|.	.|.	.|.	.|.	N|Q	10|88	.|.	.|.	H|P	-|-	1|2	0|0	PPA2|PPA2	106587103|106587103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.776000|0.776000	0.43924|0.43924	1.209000|1.209000	0.32357|0.32357	2.340000|2.340000	0.79590|0.79590	0.655000|0.655000	0.94253|0.94253	CAC|CCA			0.343	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250704.4		NM_176869		T	106367654	G	T	106367654	2	4	142	1	0	0	0	0	0	0	0	1	12304	1335	47	3		3	PPA2	4	106367654	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		106367654	84786622	13	10461											
PDZD2	23037	mdanderson.org	37	chr5	32098697	32098697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcccacagccaatgggaaGggtttgctgtccagaaagac	11	7	11	12	0	0	2	0	0	0	2	2	3	2	3	4	2	2	2	4	2	3	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr5:32098697G>T	ENST00000438447.1	+	23	8563	c.8175G>T	c.(8173-8175)aaG>aaT	p.K2725N	PDZD2_ENST00000282493.3_Missense_Mutation_p.K2725N			O15018	PDZD2_HUMAN	PDZ domain containing 2	2725					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						CCAATGGGAAGGGTTTGCTGT	0.557																																					p.K2725N													.	.			0			c.G8175T												45	43	44					5																	32098697		2203	4300	6503	SO:0001583	missense	23037	exon22			TGGGAAGGGTTTG	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.8175G>T	5.37:g.32098697G>T	ENSP00000402033:p.Lys2725Asn		49	0	0		48	0.06	3	NM_178140	3	0	0	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872267	0.51695	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07216	3.21;3.21	5.22	2.41	0.29592	.	0.000000	0.56097	D	0.000032	T	0.14056	0.0340	L	0.32530	0.975	0.29209	N	0.874716	D	0.76494	0.999	D	0.75484	0.986	T	0.05616	-1.0874	10	0.35671	T	0.21	.	6.4997	0.22162	0.1612:0.0:0.693:0.1457	.	2725	O15018	PDZD2_HUMAN	N	2725;2526;2725	ENSP00000402033:K2725N;ENSP00000282493:K2725N	ENSP00000282493:K2725N	K	+	3	2	PDZD2	32134454	1.000000	0.71417	0.104000	0.21259	0.024000	0.10985	3.499000	0.53310	0.182000	0.20032	-0.895000	0.02911	AAG			0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366608.1				T	32098697	G	T	32098697	3	4	142	1	0	0	0	0	1	0	0	0	11718	991	35	3	8261	3	PDZD2	5	32098697	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		32098697	148816563	14	10462											
CCNO	10309	mdanderson.org	37	chr5	54528990	54528990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggctgccgtgccagcGcctcccgcgggtggaagtgg	3	8	17	13	4	0	0	0	0	0	0	1	1	1	1	4	4	3	1	4	4	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr5:54528990G>T	ENST00000282572.4	-	1	518	c.362C>A	c.(361-363)gCg>gAg	p.A121E	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	121					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			CCGTGCCAGCGCCTCCCGCGG	0.682																																					p.A121E													.	.			0			c.C362A												3	4	4					5																	54528990		1770	3574	5344	SO:0001583	missense	10309	exon1			GCCAGCGCCTCCC	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"cyclin U"	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.362C>A	5.37:g.54528990G>T	ENSP00000282572:p.Ala121Glu		26	0	0		20	0.1	2	NM_021147	1	0	0	A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662101	0.47572	.	.	ENSG00000152669	ENST00000282572	T	0.11385	2.78	5.44	4.56	0.56223	Cyclin, N-terminal (1);Cyclin-like (2);	0.368855	0.27280	N	0.020090	T	0.11239	0.0274	L	0.43923	1.385	0.24682	N	0.993356	B	0.24258	0.1	B	0.29785	0.107	T	0.11665	-1.0578	10	0.62326	D	0.03	.	9.3039	0.37863	0.0799:0.1438:0.7763:0.0	.	121	P22674	CCNO_HUMAN	E	121	ENSP00000282572:A121E	ENSP00000282572:A121E	A	-	2	0	CCNO	54564747	0.738000	0.28186	0.997000	0.53966	0.949000	0.60115	1.739000	0.38217	2.546000	0.85860	0.561000	0.74099	GCG			0.682	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000369707.1		NM_021147		T	54528990	G	T	54528990	3	4	142	1	0	0	0	0	1	0	0	0	2935	1087	38	1	702	1	CCNO	5	54528990	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	22430293	54528990	126386270	15	10463											
ADAMTS2	9509	mdanderson.org	37	chr5	178564813	178564813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgctgggcgtcgccGtgctcgaagtacaggtccca	6	8	15	12	4	0	0	0	0	0	0	3	1	1	0	2	3	3	3	2	3	2	1	rs1862211	byFrequency	TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr5:178564813G>T	ENST00000251582.7	-	12	2009	c.1908C>A	c.(1906-1908)caC>caA	p.H636Q		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	636	Cys-rich.				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)		GGGCGTCGCCGTGCTCGAAGT	0.682																																					p.H636Q													.	.			0			c.C1908A												19	19	19					5																	178564813		2178	4290	6468	SO:0001583	missense	9509	exon12			GTCGCCGTGCTCG	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.1908C>A	5.37:g.178564813G>T	ENSP00000251582:p.His636Gln		31	0	0		22	0.09	2	NM_014244	0		0		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322106	0.41096	.	.	ENSG00000087116	ENST00000251582	T	0.67523	-0.27	5.62	-6.19	0.02078	.	0.111405	0.39759	N	0.001268	T	0.65217	0.2670	M	0.66506	2.035	0.21897	P	0.99948204	P	0.52061	0.95	P	0.48873	0.593	T	0.73151	-0.4073	9	0.31617	T	0.26	.	16.7628	0.85516	0.7543:0.0:0.2457:0.0	.	636	O95450	ATS2_HUMAN	Q	636	ENSP00000251582:H636Q	ENSP00000251582:H636Q	H	-	3	2	ADAMTS2	178497419	0.369000	0.25039	0.250000	0.24296	0.059000	0.15707	-0.315000	0.08081	-1.134000	0.02899	-1.069000	0.02264	CAC			0.682	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253507.1		NM_014244		T	178564813	G	T	178564813	3	4	142	1	0	0	0	0	1	0	0	0	265	1136	40	1	1771	1	ADAMTS2	5	178564813	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	124035823	178564813	2350447	16	10464											
SLC25A27	9481	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	46621035	46621035	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctaccgtggccgagctaGgtacccggctgcccacgcct	5	6	13	17	5	0	0	0	0	0	0	0	1	0	0	5	4	4	4	5	4	3	3			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr6:46621035G>C	ENST00000371347.5	+	1	358	c.106G>C	c.(106-108)Gca>Cca	p.A36P	CYP39A1_ENST00000275016.2_5'Flank|SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Splice_Site_p.A36P	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	36					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GGCCGAGCTAGGTACCCGGCT	0.731																																					p.A36P													.	SLC25A27	22		0			c.G106C												18	22	21					6																	46621035		1874	4105	5979	SO:0001630	splice_region_variant	9481	exon1			GAGCTAGGTACCC	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"Solute carriers"	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.106+1G>C	6.37:g.46621035G>C			33	0	0		23	0.22	5	NM_001204051	0		0	F5GWR4|Q5VTS9|Q8N518	Splice_Site	SNP	ENST00000371347.5	37	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	G	36	5.790285	0.96945	.	.	ENSG00000153291	ENST00000371347;ENST00000411689	T;T	0.80480	-1.38;-1.38	4.93	4.93	0.64822	Mitochondrial carrier domain (2);	0.080983	0.51477	D	0.000093	D	0.87892	0.6292	M	0.87758	2.905	0.80722	D	1	P;P	0.52463	0.953;0.951	P;P	0.59761	0.863;0.847	D	0.88535	0.3105	10	0.54805	T	0.06	-13.4426	16.0324	0.80588	0.0:0.0:1.0:0.0	.	36;36	O95847;F5GWR4	UCP4_HUMAN;.	P	36	ENSP00000360398:A36P;ENSP00000412024:A36P	ENSP00000360398:A36P	A	+	1	0	SLC25A27	46728994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.705000	0.74644	2.728000	0.93425	0.655000	0.94253	GCA			0.731	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040791.1		NM_004277	Missense_Mutation	C	46621035	G	C	46621035	5	2	142	1	0	0	0	0	0	0	1	0	14513	1014	35	5	108	5	SLC25A27	6	46621035	Splice_Site	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		46621035	124494032	17	10465											
ELOVL4	6785	mdanderson.org	37	chr6	80656990	80656990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggctccgagtccaggaGccccatcgcggcgatgagcg	7	4	14	16	6	0	1	0	1	0	0	3	4	2	2	5	3	2	1	5	3	0	0			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr6:80656990G>T	ENST00000369816.4	-	1	307	c.7C>A	c.(7-9)Ctc>Atc	p.L3I		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	3					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GAGTCCAGGAGCCCCATCGCG	0.677																																					p.L3I													.	.			0			c.C7A												52	44	47					6																	80656990		2203	4299	6502	SO:0001583	missense	6785	exon1			CCAGGAGCCCCAT	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"cancer/testis antigen 118"	605512	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.7C>A	6.37:g.80656990G>T	ENSP00000358831:p.Leu3Ile		42	0	0		27	0.11	3	NM_022726	0		0	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422029	0.62622	.	.	ENSG00000118402	ENST00000369816	T	0.18810	2.19	4.11	4.11	0.48088	.	0.408219	0.19361	N	0.116134	T	0.10852	0.0265	N	0.08118	0	0.29541	N	0.852088	P	0.52842	0.956	P	0.62184	0.899	T	0.12967	-1.0527	10	0.25751	T	0.34	-11.487	11.7008	0.51569	0.0:0.0:1.0:0.0	.	3	Q9GZR5	ELOV4_HUMAN	I	3	ENSP00000358831:L3I	ENSP00000358831:L3I	L	-	1	0	ELOVL4	80713709	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.349000	0.33998	2.116000	0.64780	0.462000	0.41574	CTC			0.677	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041315.1				T	80656990	G	T	80656990	3	4	142	1	0	0	0	0	1	0	0	0	5083	971	34	2	961	2	ELOVL4	6	80656990	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	34035955	80656990	90458077	18	10466											
C6orf167	253714	mdanderson.org	37	chr6	97702453	97702453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttcatctggtactccatGgcgatcaaacttgtaaaatg	12	13	7	9	1	3	0	2	0	1	0	4	1	4	0	1	2	2	2	1	2	4	4			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr6:97702453G>T	ENST00000275053.4	-	10	1364	c.1099C>A	c.(1099-1101)Cat>Aat	p.H367N	MMS22L_ENST00000369251.2_Missense_Mutation_p.H367N	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	367					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGTACTCCATGGCGATCAAAC	0.333																																					p.H367N													.	.			0			c.C1099A												97	96	96					6																	97702453		2203	4300	6503	SO:0001583	missense	253714	exon10			CTCCATGGCGATC		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1099C>A	6.37:g.97702453G>T	ENSP00000275053:p.His367Asn		52	0	0		51	0.06	3	NM_198468	1	0	0	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	2.940	-0.219106	0.06101	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.09	4.13	0.48395	.	0.209887	0.37623	N	0.002019	T	0.03348	0.0097	N	0.05230	-0.09	0.27937	N	0.937665	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.38714	-0.9648	10	0.08381	T	0.77	-5.755	9.8651	0.41138	0.0:0.0:0.6394:0.3606	.	367;367	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	N	367;367;255;59	ENSP00000275053:H367N;ENSP00000358254:H367N;ENSP00000427288:H255N;ENSP00000421225:H59N	ENSP00000275053:H367N	H	-	1	0	MMS22L	97809174	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.585000	0.60977	2.364000	0.80123	0.655000	0.94253	CAT			0.333	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041573.3		NM_198468		T	97702453	G	T	97702453	3	4	142	1	0	0	0	0	1	0	0	0	2344	1348	47	3	2696	3	C6orf167	6	97702453	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	17045463	97702453	73412614	19	10467											
EPB41L2	2037	mdanderson.org	37	chr6	131191163	131191163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccccaggaccactcccaGgtgatatctctttaccattc	8	12	5	16	0	2	1	0	1	2	0	6	2	3	2	5	2	1	0	5	2	2	4			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr6:131191163G>T	ENST00000337057.3	-	15	2328	c.2147C>A	c.(2146-2148)cCt>cAt	p.P716H	EPB41L2_ENST00000527659.1_Missense_Mutation_p.P646H|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P646H|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P716H|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.P646H|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P646H|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.P94H|EPB41L2_ENST00000531410.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	716					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ACCACTCCCAGGTGATATCTC	0.493																																					p.P716H													.	.			0			c.C2147A												61	58	59					6																	131191163		2203	4300	6503	SO:0001583	missense	2037	exon15			CTCCCAGGTGATA	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2147C>A	6.37:g.131191163G>T	ENSP00000338481:p.Pro716His		29	0	0		48	0.06	3	NM_001431	35	0	0	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499787	0.64298	.	.	ENSG00000079819	ENST00000530481;ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000527659;ENST00000529208;ENST00000527423;ENST00000525198	D;D;D;D;T;D;D;T	0.84589	-1.83;-1.66;-1.66;-1.68;-1.1;-1.87;-1.68;2.0	5.57	5.57	0.84162	.	0.304027	0.36665	N	0.002479	D	0.82449	0.5039	L	0.51422	1.61	0.25084	N	0.990904	D;P;D;D;P	0.63880	0.985;0.947;0.993;0.986;0.895	P;P;P;P;P	0.55999	0.578;0.527;0.628;0.789;0.619	T	0.78008	-0.2372	10	0.72032	D	0.01	.	10.6382	0.45577	0.1168:0.0:0.8832:0.0	.	646;113;646;716;94	E9PHY5;E9PCC2;E9PPD9;O43491;Q6R5J7	.;.;.;E41L2_HUMAN;.	H	646;716;113;716;646;94;646;646;115;168	ENSP00000434576:P646H;ENSP00000338481:P716H;ENSP00000357110:P716H;ENSP00000436348:P646H;ENSP00000437207:P94H;ENSP00000431647:P646H;ENSP00000436641:P646H;ENSP00000437295:P115H	ENSP00000257986:P113H	P	-	2	0	EPB41L2	131232856	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.359000	0.52292	2.629000	0.89072	0.555000	0.69702	CCT			0.493	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042204.3				T	131191163	G	T	131191163	3	4	142	1	0	0	0	0	1	0	0	0	5160	1000	35	3	890	3	EPB41L2	6	131191163	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	33488710	131191163	39923904	20	10468											
TNRC18	84629	mdanderson.org	37	chr7	5352833	5352833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactgctgccactactGctgctgctgctgctctcgga	4	12	10	15	1	1	0	0	0	1	0	2	1	1	1	1	1	10	7	1	1	2	2			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr7:5352833G>A	ENST00000430969.1	-	27	8037	c.7689C>T	c.(7687-7689)agC>agT	p.S2563S	TNRC18_ENST00000399537.4_Silent_p.S2563S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2563	Ser-rich.						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)		tgccactactgctgctgctgc	0.672																																					p.S2563S													.	.			0			c.C7689T												3	5	4					7																	5352833		1128	2739	3867	SO:0001819	synonymous_variant	84629	exon27			ACTACTGCTGCTG	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.7689C>T	7.37:g.5352833G>A			39	0.0256410256	1		28	0.11	3	NM_001080495	23	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.904535	0.00512	.	.	ENSG00000182095	ENST00000328270	.	.	.	4.38	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8385	0.08905	0.1403:0.149:0.519:0.1916	.	.	.	.	X	377	.	.	Q	-	1	0	TNRC18	5319359	0.004000	0.15560	0.014000	0.15608	0.007000	0.05969	-0.229000	0.09098	-0.173000	0.10761	-1.164000	0.01763	CAG			0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding						A	5352833	G	A	5352833	2	1	142	1	0	0	0	0	0	0	0	1	16362	1310	46	2		2	TNRC18	7	5352833	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		5352833	153785830	21	10469											
RBM33	155435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr7	155556646	155556646	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccacatctgccagcgggGccccacgcacactcgcctgt	6	5	9	21	3	1	0	0	0	1	0	2	0	1	0	6	2	2	1	6	2	0	0			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr7:155556646G>T	ENST00000401878.3	+	15	3318	c.3120G>T	c.(3118-3120)ggG>ggT	p.G1040G	RBM33_ENST00000341148.3_5'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1040							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGCCAGCGGGGCCCCACGCAC	0.662																																					p.G1040G													.	.			0			c.G3120T												11	13	12					7																	155556646		1977	4153	6130	SO:0001819	synonymous_variant	155435	exon15			AGCGGGGCCCCAC	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.3120G>T	7.37:g.155556646G>T			182	0	0		101	0.23	23	NM_053043	5	0.2	1	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	0.167	-1.075688	0.01903	.	.	ENSG00000184863	ENST00000392761	T	0.48522	0.81	5.91	-3.19	0.05171	.	0.818759	0.09805	U	0.753637	T	0.40862	0.1134	.	.	.	0.22330	N	0.999197	.	.	.	.	.	.	T	0.46735	-0.9170	7	0.56958	D	0.05	.	6.7671	0.23573	0.356:0.4714:0.1726:0.0	.	.	.	.	V	813	ENSP00000376514:G813V	ENSP00000376514:G813V	G	+	2	0	RBM33	155249407	0.054000	0.20591	0.003000	0.11579	0.026000	0.11368	-0.356000	0.07661	-0.752000	0.04728	-0.880000	0.02959	GGC			0.662	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317225.3		NM_001008408		T	155556646	G	T	155556646	2	4	142	1	0	0	0	0	0	0	0	1	13153	1190	42	2		2	RBM33	7	155556646	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	150203813	155556646	3582017	22	10470											
MAPK15	225689	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr8	144804021	144804021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgactggaaccggggcGgtggggtgagggtggccagc	5	5	24	7	2	0	2	0	2	0	0	0	3	0	3	2	10	2	0	2	10	1	0	rs376274608		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr8:144804021G>A	ENST00000338033.4	+	13	1548	c.1429G>A	c.(1429-1431)Ggt>Agt	p.G477S	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	477					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			GAACCGGGGCGGTGGGGTGAG	0.692																																					p.G477S													.	MAPK15	32		0			c.G1429A							G	SER/GLY	1,3943		0,1,1971	28	39	36		1429	-0.7	0	8		36	0,8234		0,0,4117	no	missense	MAPK15	NM_139021.2	56	0,1,6088	AA,AG,GG		0.0,0.0254,0.0082	benign	477/545	144804021	1,12177	1972	4117	6089	SO:0001583	missense	225689	exon13			CGGGGCGGTGGGG	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1429G>A	8.37:g.144804021G>A	ENSP00000337691:p.Gly477Ser		38	0.0263157895	1		39	0.28	11	NM_139021	1	0	0	Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	6.822	0.520777	0.13005	2.54E-4	0.0	ENSG00000181085	ENST00000338033	T	0.72394	-0.65	3.0	-0.737	0.11129	.	1.389390	0.04996	U	0.468123	T	0.49660	0.1570	N	0.19112	0.55	0.09310	N	0.999999	B	0.25312	0.123	B	0.10450	0.005	T	0.24476	-1.0159	10	0.09843	T	0.71	0.5022	6.5755	0.22564	0.1357:0.2821:0.5823:0.0	.	477	Q8TD08	MK15_HUMAN	S	477	ENSP00000337691:G477S	ENSP00000337691:G477S	G	+	1	0	MAPK15	144876009	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.549000	0.06041	-0.019000	0.14055	0.306000	0.20318	GGT			0.692	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000300348.1		NM_139021		A	144804021	G	A	144804021	3	1	142	1	0	0	0	0	1	0	0	0	9293	1116	39	1	1479	1	MAPK15	8	144804021	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		144804021	1560001	23	10471											
BICD2	23299	broad.mit.edu;mdanderson.org	37	chr9	95477707	95477707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcagccgccagctgcCgctgcatctcatccagctgt	6	8	9	18	2	2	0	2	0	1	0	4	0	3	0	5	0	6	5	5	0	0	0			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr9:95477707C>T	ENST00000375512.3	-	7	2364	c.2297G>A	c.(2296-2298)cGg>cAg	p.R766Q	BICD2_ENST00000356884.6_Missense_Mutation_p.R766Q	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	766	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGCCAGCTGCCGCTGCATCTC	0.627																																					p.R766Q													BICD2,NS,carcinoma,0,1	BICD2	68	1	0			c.G2297A												32	32	32					9																	95477707		2199	4296	6495	SO:0001583	missense	23299	exon7			AGCTGCCGCTGCA	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2297G>A	9.37:g.95477707C>T	ENSP00000364662:p.Arg766Gln		118	0	0		82	0.05	4	NM_001003800	0		0	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275797	0.95459	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.54071	0.59;0.59	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.71846	-0.4469	10	0.52906	T	0.07	-46.7102	16.588	0.84732	0.0:1.0:0.0:0.0	.	766;766	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	Q	766	ENSP00000349351:R766Q;ENSP00000364662:R766Q	ENSP00000349351:R766Q	R	-	2	0	BICD2	94517528	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.714000	0.84703	2.593000	0.87608	0.655000	0.94253	CGG			0.627	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000055508.1		NM_015250		T	95477707	C	T	95477707	3	4	142	1	0	0	0	0	1	0	0	0	1429	652	23	1	284	1	BICD2	9	95477707	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10		95477707	45735724	24	10472											
PPP3R2	116443	mdanderson.org	37	chr9	104357065	104357065	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggttgtggcgcagctccgGcagggacatgaactcctcca	7	7	14	13	3	0	1	0	1	0	0	3	2	3	2	3	4	2	4	3	4	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr9:104357065G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.P50S	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)	CGCAGCTCCGGCAGGGACATG	0.537																																					p.P50S													PPP3R2,caecum,carcinoma,+2,1	PPP3R2	2	1	0			c.C148T												65	64	64					9																	104357065		2203	4300	6503	SO:0001627	intron_variant	5535	exon1			GCTCCGGCAGGGA		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.2767-15423C>T	9.37:g.104357065G>A			63	0	0		37	0.08	3	NM_147180	0		0	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959235	0.34565	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.71103	-0.54	3.94	3.05	0.35203	EF-hand-like domain (1);	0.000000	0.39544	N	0.001332	T	0.63177	0.2489	L	0.43646	1.37	0.43540	D	0.995832	B	0.34349	0.45	B	0.38020	0.263	T	0.66324	-0.5952	10	0.87932	D	0	-14.39	9.8497	0.41048	0.1025:0.0:0.8975:0.0	.	47	Q96LZ3	CANB2_HUMAN	S	50	ENSP00000363939:P50S	ENSP00000363939:P50S	P	-	1	0	PPP3R2	103396886	1.000000	0.71417	0.923000	0.36655	0.075000	0.17131	7.618000	0.83043	1.251000	0.43983	0.563000	0.77884	CCG			0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053453.1				A	104357065	G	A	104357065	1	1	142	0	1	0	0	0	0	0	0	0	12421	1203	42	2		2	PPP3R2	9	104357065	Intron	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	8879358	104357065	36856366	25	10473											
CRB2	286204	broad.mit.edu	37	chr9	126132724	126132724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctgggtctggcactgagGtttcgcaccacactgcccgc	5	8	11	17	2	1	1	0	1	1	0	2	1	1	1	4	3	1	3	4	3	0	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr9:126132724G>T	ENST00000373631.3	+	7	1393	c.1392G>T	c.(1390-1392)agG>agT	p.R464S	CRB2_ENST00000373629.2_Missense_Mutation_p.R132S|CRB2_ENST00000359999.3_Missense_Mutation_p.R464S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	464	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGCACTGAGGTTTCGCACCA	0.602																																					p.R464S													.	CRB2	86		0			c.G1392T												48	45	46					9																	126132724		2203	4300	6503	SO:0001583	missense	286204	exon7			ACTGAGGTTTCGC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1392G>T	9.37:g.126132724G>T	ENSP00000362734:p.Arg464Ser		84	0	0		53	0.06	3	NM_173689	2	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227442	0.58668	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.78595	-1.19;0.05;-1.19	4.94	0.983	0.19767	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.46145	D	0.000315	T	0.79251	0.4414	L	0.59436	1.845	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.77557	0.976;0.99	T	0.74711	-0.3573	10	0.09338	T	0.73	.	5.6069	0.17385	0.3837:0.2013:0.415:0.0	.	464;464	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	S	464;464;132	ENSP00000353092:R464S;ENSP00000362734:R464S;ENSP00000362732:R132S	ENSP00000353092:R464S	R	+	3	2	CRB2	125172545	0.250000	0.23951	0.997000	0.53966	0.930000	0.56654	-0.387000	0.07361	-0.085000	0.12573	0.448000	0.29417	AGG			0.602	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053990.3		NM_173689		T	126132724	G	T	126132724	3	4	142	1	0	0	0	0	1	0	0	0	3851	1252	44	3	1418	3	CRB2	9	126132724	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	21775659	126132724	15080707	26	10474											
SCAI	286205	broad.mit.edu	37	chr9	127783012	127783012	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaaactactataaatctTgcataatatcgtaacttctt	16	14	3	8	1	2	1	0	0	2	1	3	1	2	1	0	0	4	2	0	0	8	9			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr9:127783012T>G	ENST00000336505.6	-	7	607	c.549A>C	c.(547-549)gcA>gcC	p.A183A	SCAI_ENST00000373549.4_Silent_p.A206A	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	183	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						CTATAAATCTTGCATAATATC	0.259																																					p.A206A													.	SCAI	84		0			c.A618C												74	73	73					9																	127783012		1805	4035	5840	SO:0001819	synonymous_variant	286205	exon8			AAATCTTGCATAA	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.549A>C	9.37:g.127783012T>G			208	0	0		206	0.03	6	NM_173690	0		0	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Silent	SNP	ENST00000336505.6	37	CCDS48017.1																																																																																					0.259	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054055.3		NM_173690		G	127783012	T	G	127783012	2	3	142	1	0	0	0	0	0	0	0	1	13892	1799	63	4		4	SCAI	9	127783012	Silent	SNP	T	TCGA-ZM-AA0B-01A-11D-A435-10	1650288	127783012	13430419	27	10475											
LARP4B	23185	mdanderson.org	37	chr10	860954	860954	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagaagccggcaccgaGggctctctggagaccactac	11	4	12	14	2	1	2	0	0	1	2	2	4	1	2	3	3	2	3	3	3	3	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr10:860954G>T	ENST00000316157.3	-	15	1792	c.1752C>A	c.(1750-1752)ccC>ccA	p.P584P	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	584					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCGGCACCGAGGGCTCTCTGG	0.567																																					p.P584P													.	.			0			c.C1752A												87	81	83					10																	860954		2203	4300	6503	SO:0001819	synonymous_variant	23185	exon16			CACCGAGGGCTCT	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1752C>A	10.37:g.860954G>T			57	0	0		43	0.07	3	NM_015155	13	0	0	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.654|0.654	-0.808222|-0.808222	0.02819|0.02819	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000448368|ENST00000440895	.|.	.|.	.|.	5.85|5.85	-0.251|-0.251	0.13003|0.13003	.|.	.|0.145914	.|0.64402	.|D	.|0.000005	T|T	0.48484|0.48484	0.1502|0.1502	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44452|0.44452	-0.9327|-0.9327	4|6	.|0.62326	.|D	.|0.03	-14.5459|-14.5459	1.2229|1.2229	0.01927|0.01927	0.2974:0.1524:0.3953:0.1549|0.2974:0.1524:0.3953:0.1549	.|.	.|.	.|.	.|.	I|H	150|60	.|.	.|ENSP00000403018:P60H	L|P	-|-	1|2	0|0	LARP4B|LARP4B	850954|850954	0.000000|0.000000	0.05858|0.05858	0.375000|0.375000	0.26029|0.26029	0.037000|0.037000	0.13140|0.13140	-1.344000|-1.344000	0.02639|0.02639	0.079000|0.079000	0.16929|0.16929	-0.243000|-0.243000	0.11985|0.11985	CTC|CCT			0.567	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046395.2		NM_015155		T	860954	G	T	860954	2	4	142	1	0	0	0	0	0	0	0	1	8646	987	35	3		3	LARP4B	10	860954	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		860954	134673793	28	10476											
LRDD	79751	mdanderson.org	37	chr11	799966	799966	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctcccagattcaagggtgCcaaggagaggccagcccccc	10	5	11	15	0	2	2	1	0	1	2	3	3	2	2	6	3	2	0	6	3	2	1	rs557708824		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr11:799966C>T	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Missense_Mutation_p.A775T|PIDD_ENST00000411829.2_Missense_Mutation_p.A758T	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)		TTCAAGGGTGCCAAGGAGAGG	0.642													C|||	1	0.000199681	0	0	5008	,	,		16297	0		0.001	False		,,,				2504	0				p.A775T	Colon(93;848 1468 3270 23355 49636)												.	.			0			c.G2323A												26	34	32					11																	799966		2201	4291	6492	SO:0001631	upstream_gene_variant	55367	exon15			AGGGTGCCAAGGA	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.799966C>T	Exception_encountered		69	0	0		32	0.09	3	NM_145886	84	0	0	A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000531214.1	37	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691931	0.30052	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	D;D	0.93189	-3.18;-3.18	4.24	2.99	0.34606	DEATH-like (1);	0.333406	0.27866	N	0.017533	T	0.81456	0.4826	N	0.14661	0.345	0.22330	N	0.999194	B;B;B	0.34015	0.304;0.435;0.372	B;B;B	0.28011	0.036;0.085;0.058	T	0.69910	-0.5017	10	0.12103	T	0.63	.	5.7557	0.18172	0.0:0.4879:0.3534:0.1587	.	775;618;758	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	T	758;775	ENSP00000416801:A758T;ENSP00000337797:A775T	ENSP00000337797:A775T	A	-	1	0	PIDD	789966	0.998000	0.40836	0.940000	0.37924	0.186000	0.23388	1.043000	0.30316	0.656000	0.30886	0.462000	0.41574	GCA			0.642	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384124.1				T	799966	C	T	799966	1	4	142	0	1	0	0	0	0	0	0	0	8952	739	26	2		2	LRDD	11	799966	5'Flank	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10		799966	134206550	29	10477											
CRY2	1408	hgsc.bcm.edu;mdanderson.org	37	chr11	45869127	45869127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcggtgcactggttccGcaaagggctgcgactccacg	6	9	12	14	4	1	0	0	0	1	0	4	1	3	0	2	3	2	4	2	3	1	2			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr11:45869127G>T	ENST00000443527.2	+	1	171	c.149G>T	c.(148-150)cGc>cTc	p.R50L	CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	29	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|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 sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CACTGGTTCCGCAAAGGGCTG	0.721																																					p.R50L	Esophageal Squamous(106;91 1499 8126 12599 39610)												CRY2,colon,carcinoma,0,1	CRY2	0	1	0			c.G149T												10	12	11					11																	45869127		2187	4271	6458	SO:0001583	missense	1408	exon1			GGTTCCGCAAAGG	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.149G>T	11.37:g.45869127G>T	ENSP00000406751:p.Arg50Leu		20	0	0		20	0.1	2	NM_021117	0		0	B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	G	37	5.978114	0.97168	.	.	ENSG00000121671	ENST00000443527	.	.	.	5.1	5.1	0.69264	.	0.118967	0.56097	D	0.000021	D	0.90494	0.7022	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93718	0.7030	9	0.87932	D	0	-24.3251	15.8994	0.79362	0.0:0.0:1.0:0.0	.	50	B4DZD6	.	L	50	.	ENSP00000406751:R50L	R	+	2	0	CRY2	45825703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.547000	0.90665	2.817000	0.96982	0.561000	0.74099	CGC			0.721	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330235.2		NM_021117		T	45869127	G	T	45869127	3	4	142	1	0	0	0	0	1	0	0	0	3906	1087	38	1	187	1	CRY2	11	45869127	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	45069161	45869127	89137389	30	10478											
CHRM1	1128	mdanderson.org	37	chr11	62677554	62677554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctttccacggggcttctggCccttgccagctcgatcacgc	4	10	10	17	3	2	0	1	0	1	0	4	1	3	0	4	3	2	2	4	3	0	3			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr11:62677554C>T	ENST00000306960.3	-	2	1560	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	340					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	GGGCTTCTGGCCCTTGCCAGC	0.642																																					p.G340D													.	.			0			c.G1019A												46	48	47					11																	62677554		2201	4298	6499	SO:0001583	missense	1128	exon2			TTCTGGCCCTTGC	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1019G>A	11.37:g.62677554C>T	ENSP00000306490:p.Gly340Asp		39	0	0		24	0.08	2	NM_000738	0		0	Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	C	9.610	1.131064	0.21041	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.61040	0.18;0.14	4.92	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	1.052440	0.07487	N	0.904945	T	0.41811	0.1175	N	0.14661	0.345	0.33976	D	0.647341	B	0.23442	0.085	B	0.28638	0.092	T	0.48927	-0.8991	10	0.44086	T	0.13	-4.0207	7.4451	0.27207	0.0:0.7215:0.176:0.1025	.	340	P11229	ACM1_HUMAN	D	340	ENSP00000306490:G340D;ENSP00000441188:G340D	ENSP00000306490:G340D	G	-	2	0	CHRM1	62434130	0.052000	0.20516	0.978000	0.43139	0.982000	0.71751	0.296000	0.19083	1.254000	0.44035	0.655000	0.94253	GGC			0.642	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396178.1		NM_000738		T	62677554	C	T	62677554	3	4	142	1	0	0	0	0	1	0	0	0	3378	739	26	2	367	2	CHRM1	11	62677554	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	16808427	62677554	72328962	31	10479											
FERMT3	83706	mdanderson.org	37	chr11	63974970	63974970	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgcacatcggcggggTgctcctgaagattgtggagc	7	8	17	9	3	0	2	0	1	0	1	3	4	1	4	1	5	2	2	1	5	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr11:63974970T>G	ENST00000279227.5	+	2	229	c.134T>G	c.(133-135)gTg>gGg	p.V45G	FERMT3_ENST00000345728.5_Missense_Mutation_p.V45G	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	45					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						ATCGGCGGGGTGCTCCTGAAG	0.657																																					p.V45G													.	.			0			c.T134G												44	48	47					11																	63974970		2201	4297	6498	SO:0001583	missense	83706	exon2			GCGGGGTGCTCCT	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.134T>G	11.37:g.63974970T>G	ENSP00000279227:p.Val45Gly		116	0.2844827586	33		62	0.27	17	NM_031471	5	0.2	1	Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	T	33	5.201193	0.94997	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.57595	0.89;0.39;0.39	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000002	T	0.71668	0.3367	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.972	T	0.76203	-0.3045	10	0.87932	D	0	-28.752	13.1635	0.59557	0.0:0.0:0.0:1.0	.	45;45	Q86UX7-2;Q86UX7	.;URP2_HUMAN	G	45	ENSP00000445778:V45G;ENSP00000339950:V45G;ENSP00000279227:V45G	ENSP00000279227:V45G	V	+	2	0	FERMT3	63731546	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.325000	0.65869	2.023000	0.59567	0.459000	0.35465	GTG			0.657	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000396297.1		NM_031471		G	63974970	T	G	63974970	3	3	142	1	0	0	0	0	1	0	0	0	5832	1696	59	4	136	4	FERMT3	11	63974970	Missense_Mutation	SNP	T	TCGA-ZM-AA0B-01A-11D-A435-10	1297416	63974970	71031546	32	10480											
ALG9	79796	mdanderson.org	37	chr11	111706994	111706994	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactgacctctgaactctGatggaatgaactgaagctgc	12	10	10	9	0	2	5	0	5	2	0	2	6	2	6	1	1	5	2	1	1	5	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr11:111706994G>T	ENST00000531154.1	-	13	1455	c.983C>A	c.(982-984)tCa>tAa	p.S328*	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Nonsense_Mutation_p.S321*|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	492					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TCTGAACTCTGATGGAATGAA	0.438																																					p.S499X													.	.			0			c.C1496A												76	72	73					11																	111706994		1854	4087	5941	SO:0001587	stop_gained	79796	exon14			AACTCTGATGGAA		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.983C>A	11.37:g.111706994G>T	ENSP00000435517:p.Ser328*		72	0	0		43	0.07	3	NM_024740	32	0	0	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Nonsense_Mutation	SNP	ENST00000531154.1	37	CCDS41714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.783363|9.783363	0.99263|0.99263	.|.	.|.	ENSG00000086848|ENSG00000086848	ENST00000532425|ENST00000531154;ENST00000398006;ENST00000428306	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47002|.	0.1422|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37957|.	-0.9683|.	3|.	.|0.02654	.|T	.|1	-13.4211|-13.4211	19.0933|19.0933	0.93238|0.93238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	77|328;321;725	.|.	.|ENSP00000381090:S321X	Q|S	-|-	1|2	0|0	ALG9|ALG9	111212204|111212204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.784000|9.784000	0.99039|0.99039	2.586000|2.586000	0.87340|0.87340	0.563000|0.563000	0.77884|0.77884	CAG|TCA			0.438	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000391485.1		NM_024740		T	111706994	G	T	111706994	4	4	142	1	0	0	0	0	0	1	0	0	524	1294	45	3	372	3	ALG9	11	111706994	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	47732024	111706994	23299522	33	10481											
KRT84	3890	mdanderson.org	37	chr12	52774348	52774348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcggcctcggccactGcagcctccaacttggcacgc	5	7	11	18	3	0	0	0	0	0	0	3	0	1	0	4	3	4	4	4	3	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr12:52774348G>A	ENST00000257951.3	-	7	1289	c.1223C>T	c.(1222-1224)gCa>gTa	p.A408V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	408	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCGGCCACTGCAGCCTCCAA	0.627											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A408V													.	.			0			c.C1223T												22	19	20					12																	52774348		2201	4298	6499	SO:0001583	missense	3890	exon7			GCCACTGCAGCCT	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1223C>T	12.37:g.52774348G>A	ENSP00000257951:p.Ala408Val		33	0	0	987	42	0.07	3	NM_033045	0		0	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216024	0.58452	.	.	ENSG00000161849	ENST00000257951	T	0.77620	-1.11	5.03	4.14	0.48551	Filament (1);	0.148255	0.31821	N	0.007015	D	0.89111	0.6622	M	0.88181	2.935	0.09310	N	1	D	0.69078	0.997	D	0.68353	0.957	D	0.83673	0.0167	10	0.87932	D	0	.	15.6836	0.77391	0.0:0.137:0.8629:0.0	.	408	Q9NSB2	KRT84_HUMAN	V	408	ENSP00000257951:A408V	ENSP00000257951:A408V	A	-	2	0	KRT84	51060615	0.996000	0.38824	0.005000	0.12908	0.571000	0.35966	5.396000	0.66297	1.342000	0.45619	0.655000	0.94253	GCA			0.627	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405187.1		NM_033045		A	52774348	G	A	52774348	3	1	142	1	0	0	0	0	1	0	0	0	8513	1319	46	2	591	2	KRT84	12	52774348	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		52774348	81077547	34	10482											
PAN2	9924	broad.mit.edu	37	chr12	56719235	56719235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgactccttgagtctgtaggGtatctagggattttaggaag	9	14	13	5	0	2	2	0	2	2	0	3	4	3	4	1	3	0	2	1	3	5	6			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr12:56719235G>T	ENST00000425394.2	-	9	1739	c.1363C>A	c.(1363-1365)Ccc>Acc	p.P455T	PAN2_ENST00000257931.5_Missense_Mutation_p.P455T|PAN2_ENST00000440411.3_Missense_Mutation_p.P455T|PAN2_ENST00000548043.1_Missense_Mutation_p.P455T	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AGTCTGTAGGGTATCTAGGGA	0.458																																					p.P455T													.	PAN2	107		0			c.C1363A												153	129	137					12																	56719235		2203	4300	6503	SO:0001583	missense	9924	exon9			TGTAGGGTATCTA	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1363C>A	12.37:g.56719235G>T	ENSP00000401721:p.Pro455Thr		78	0	0		100	0.04	4	NM_014871	22	0	0		Missense_Mutation	SNP	ENST00000425394.2	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	g	14.96	2.690816	0.48097	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.25250	1.81;1.82;1.81;1.81	5.13	4.24	0.50183	.	0.167112	0.53938	D	0.000055	T	0.35653	0.0939	M	0.72353	2.195	0.58432	D	0.999998	P;P;P	0.52061	0.9;0.95;0.917	P;P;P	0.50896	0.576;0.653;0.451	T	0.17198	-1.0377	10	0.62326	D	0.03	-12.5765	7.9824	0.30192	0.0826:0.0:0.7592:0.1582	.	455;455;455	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	T	455	ENSP00000401721:P455T;ENSP00000388231:P455T;ENSP00000257931:P455T;ENSP00000449861:P455T	ENSP00000257931:P455T	P	-	1	0	PAN2	55005502	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.571000	0.82399	1.325000	0.45301	0.645000	0.84053	CCC			0.458	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000409024.1		NM_014871		T	56719235	G	T	56719235	3	4	142	1	0	0	0	0	1	0	0	0	11431	1261	44	3	2317	3	PAN2	12	56719235	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	3944887	56719235	77132660	35	10483											
FAM109A	144717	mdanderson.org	37	chr12	111800828	111800828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggctggggcagggccatgCcacccccgccacgtacagcc	6	3	15	17	2	0	0	0	0	0	0	0	0	0	0	6	5	3	3	6	5	1	1	rs3840795|rs139032867	byFrequency	TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr12:111800828C>T	ENST00000547838.2	-	2	501	c.404G>A	c.(403-405)gGc>gAc	p.G135D	FAM109A_ENST00000450786.2_Missense_Mutation_p.A116T|FAM109A_ENST00000361483.3_Missense_Mutation_p.G148D|FAM109A_ENST00000548163.1_Missense_Mutation_p.G135D|FAM109A_ENST00000392658.5_Missense_Mutation_p.G135D			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	135					endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)	p.G146_G148delGGG(1)|p.G133_G135delGGG(1)		breast(1)|endometrium(1)|lung(1)|ovary(1)	4						cagggCCATGCCACCCCCGCC	0.736																																					p.G148D													.	.			2	Deletion - In frame(2)	breast(2)	c.G443A												4	6	6					12																	111800828		1950	3999	5949	SO:0001583	missense	144717	exon4			GCCATGCCACCCC	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"Pleckstrin homology (PH) domain containing"	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.404G>A	12.37:g.111800828C>T	ENSP00000447353:p.Gly135Asp		23	0	0		16	0.13	2	NM_001177996	1	0	0	J3KP50|Q6PJL9|Q96MH8	Missense_Mutation	SNP	ENST00000547838.2	37	CCDS9152.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.141|9.141	1.013911|1.013911	0.19277|0.19277	.|.	.|.	ENSG00000198324|ENSG00000198324	ENST00000450786|ENST00000547838;ENST00000361483;ENST00000392658;ENST00000548163	.|T;T;T;T	.|0.30714	.|1.53;1.52;1.53;1.53	2.26|2.26	2.26|2.26	0.28386|0.28386	.|.	.|.	.|.	.|.	.|.	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P|B	0.34934|0.25904	0.476|0.137	B|B	0.25884|0.18263	0.064|0.021	T|T	0.21518|0.21518	-1.0243|-1.0243	8|9	0.87932|0.27785	D|T	0|0.31	.|.	9.7612|9.7612	0.40532|0.40532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	116|135	G3V0F1|Q8N4B1	.|SESQ1_HUMAN	T|D	116|135;148;135;135	.|ENSP00000447353:G135D;ENSP00000354461:G148D;ENSP00000376426:G135D;ENSP00000449994:G135D	ENSP00000390552:A116T|ENSP00000354461:G148D	A|G	-|-	1|2	0|0	FAM109A|FAM109A	110285211|110285211	0.010000|0.010000	0.17322|0.17322	0.006000|0.006000	0.13384|0.13384	0.039000|0.039000	0.13416|0.13416	1.112000|1.112000	0.31172|0.31172	0.745000|0.745000	0.32763|0.32763	0.313000|0.313000	0.20887|0.20887	GCA|GGC			0.736	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404768.2		NM_144671		T	111800828	C	T	111800828	3	4	142	1	0	0	0	0	1	0	0	0	5404	739	26	2	349	2	FAM109A	12	111800828	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	55081593	111800828	22051067	36	10484											
PEBP1	5037	mdanderson.org	37	chr12	118574112	118574112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacctacgccggggcggCggtggacgagctgggcaaag	7	5	18	11	5	1	0	1	0	0	0	1	2	1	1	2	6	2	2	2	6	2	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr12:118574112C>T	ENST00000261313.2	+	1	450	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	33						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCGGGGCGGCGGTGGACGAG	0.726																																					p.A33V	NSCLC(44;94 1357 12187 49467)												.	.			0			c.C98T												9	11	11					12																	118574112		1960	3659	5619	SO:0001583	missense	5037	exon1			GGGCGGCGGTGGA	X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"Raf kinase inhibitory protein", "hippocampal cholinergic neurostimulating peptide"	604591	"prostatic binding protein"	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.98C>T	12.37:g.118574112C>T	ENSP00000261313:p.Ala33Val		18	0	0		15	0.13	2	NM_002567	100	0	0	B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242246	0.22796	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.42513	0.97	4.75	-4.14	0.03892	.	0.372823	0.32563	N	0.005922	T	0.13286	0.0322	N	0.04132	-0.27	0.09310	N	1	B;B	0.19200	0.034;0.001	B;B	0.13407	0.009;0.002	T	0.07635	-1.0762	10	0.27785	T	0.31	.	2.8801	0.05645	0.1946:0.3382:0.0682:0.399	.	33;33	B4DRT4;P30086	.;PEBP1_HUMAN	V	33	ENSP00000261313:A33V	ENSP00000261313:A33V	A	+	2	0	PEBP1	117058495	1.000000	0.71417	0.001000	0.08648	0.129000	0.20672	1.875000	0.39578	-1.013000	0.03383	-0.339000	0.08088	GCG			0.726	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401405.1		NM_002567		T	118574112	C	T	118574112	3	4	142	1	0	0	0	0	1	0	0	0	11730	768	27	1	100	1	PEBP1	12	118574112	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	6773284	118574112	15277783	37	10485											
CCDC64	92558	mdanderson.org	37	chr12	120527873	120527873	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcagctggaagcttggCaggtaaactggagcctgaga	11	6	15	9	1	0	1	0	1	0	1	0	4	0	3	1	4	5	6	1	4	3	2			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr12:120527873C>T	ENST00000397558.2	+	8	1558	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	CCDC64_ENST00000446727.2_Nonsense_Mutation_p.Q191*|CCDC64_ENST00000257583.4_Nonsense_Mutation_p.Q217*	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	520					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAAGCTTGGCAGGTAAACTG	0.537																																					p.Q520X													.	.			0			c.C1558T												62	63	63					12																	120527873		1936	4144	6080	SO:0001587	stop_gained	92558	exon8			GCTTGGCAGGTAA	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1558C>T	12.37:g.120527873C>T	ENSP00000380690:p.Gln520*		69	0	0		42	0.07	3	NM_207311	52	0	0	A8MUC8|B4DWL0|B5MDJ0|O95000	Nonsense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138214	0.77775	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.9655	18.8023	0.92023	0.0:1.0:0.0:0.0	.	.	.	.	X	520;191;238;217	.	ENSP00000257583:Q217X	Q	+	1	0	CCDC64	119012256	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	7.814000	0.86154	2.422000	0.82143	0.462000	0.41574	CAG			0.537	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000403390.2		NM_207311		T	120527873	C	T	120527873	4	4	142	1	0	0	0	0	0	1	0	0	2837	711	25	2	1588	2	CCDC64	12	120527873	Nonsense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	1953761	120527873	13324022	38	10486											
JPH4	84502	mdanderson.org	37	chr14	24044904	24044904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcccacctggcagcggCgatctcctggcgctgacggg	5	5	16	15	5	1	1	0	1	1	0	2	3	1	2	3	5	1	2	3	5	0	0			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr14:24044904C>T	ENST00000397118.3	-	4	2043	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Missense_Mutation_p.A381T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	381					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCAGCGGCGATCTCCTGG	0.687																																					p.A381T													JPH4,NS,carcinoma,0,1	JPH4	0	1	0			c.G1141A												11	12	12					14																	24044904		2181	4283	6464	SO:0001583	missense	84502	exon4			CAGCGGCGATCTC	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1141G>A	14.37:g.24044904C>T	ENSP00000380307:p.Ala381Thr		44	0	0		41	0.07	3	NM_032452	0		0	D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342303	0.41498	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.63744	-0.06;-0.06	4.06	4.06	0.47325	.	0.000000	0.29964	U	0.010742	T	0.76723	0.4027	M	0.71581	2.175	0.48696	D	0.999697	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.80122	-0.1514	10	0.87932	D	0	.	13.7735	0.63039	0.0:1.0:0.0:0.0	.	381;381	A8K396;Q96JJ6	.;JPH4_HUMAN	T	381;381;381;382	ENSP00000348648:A381T;ENSP00000380307:A381T	ENSP00000267407:A382T	A	-	1	0	JPH4	23114744	1.000000	0.71417	0.990000	0.47175	0.010000	0.07245	7.156000	0.77453	2.079000	0.62486	0.563000	0.77884	GCC			0.687	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413853.1		NM_032452		T	24044904	C	T	24044904	3	4	142	1	0	0	0	0	1	0	0	0	7978	768	27	1	761	1	JPH4	14	24044904	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10		24044904	83304636	39	10487											
KCNH5	27133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	63447863	63447863	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcggtgtagaaggtaagAattaaaatcacccaatccca	16	8	9	8	1	1	2	1	0	0	2	2	2	2	2	2	3	0	2	2	3	7	3			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr14:63447863A>G	ENST00000322893.7	-	6	937	c.669T>C	c.(667-669)atT>atC	p.I223I	KCNH5_ENST00000394964.2_Silent_p.I165I|KCNH5_ENST00000394968.1_Silent_p.I165I|KCNH5_ENST00000420622.2_Silent_p.I223I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	223					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGAAGGTAAGAATTAAAATCA	0.388																																					p.I223I													.	.			0			c.T669C												78	77	77					14																	63447863		2203	4300	6503	SO:0001819	synonymous_variant	27133	exon6			GGTAAGAATTAAA	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.669T>C	14.37:g.63447863A>G			104	0	0		86	0.16	14	NM_172375	2	1	2	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																					0.388	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411747.1		NM_139318		G	63447863	A	G	63447863	2	3	142	1	0	0	0	0	0	0	0	1	8050	242	9	4		4	KCNH5	14	63447863	Silent	SNP	A	TCGA-ZM-AA0B-01A-11D-A435-10	39402959	63447863	43901677	40	10488											
FUT8	2530	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	66028473	66028473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacttgaggcgaatggcCgaatctctccggtaggtcct	9	9	13	10	3	1	2	0	1	1	1	4	5	3	2	3	4	0	1	3	4	4	2	rs372888976		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr14:66028473C>T	ENST00000360689.5	+	3	1919	c.192C>T	c.(190-192)gcC>gcT	p.A64A	FUT8_ENST00000394586.2_Silent_p.A64A|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000394585.1_Silent_p.A64A|FUT8_ENST00000557164.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	64					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GGCGAATGGCCGAATCTCTCC	0.403																																					p.A64A													.	.			0			c.C192T							C	,,	0,4406		0,0,2203	54	52	53		,192,192	-1.1	1	14		53	2,8596	2.2+/-6.3	0,2,4297	no	intron,coding-synonymous,coding-synonymous	FUT8	NM_004480.4,NM_178155.2,NM_178156.2	,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,	,64/576,64/576	66028473	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	2530	exon3			AATGGCCGAATCT	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.192C>T	14.37:g.66028473C>T			51	0	0		50	0.1	5	NM_178155	1	0	0	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	CCDS9775.1																																																																																					0.403	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286406.1		NM_004480		T	66028473	C	T	66028473	2	4	142	1	0	0	0	0	0	0	0	1	6123	639	23	1		1	FUT8	14	66028473	Silent	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	2580610	66028473	41321067	41	10489											
EIF2B2	8892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	75475839	75475839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgggaatgcaccttcctAcatctaccgcctgatgagtg	8	11	11	11	1	1	2	0	2	1	0	2	3	2	3	4	2	3	1	4	2	3	3			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr14:75475839A>G	ENST00000266126.5	+	8	1084	c.1004A>G	c.(1003-1005)tAc>tGc	p.Y335C	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	335					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|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)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GCACCTTCCTACATCTACCGC	0.473																																					p.Y335C													.	.			0			c.A1004G												359	291	314					14																	75475839		2203	4300	6503	SO:0001583	missense	8892	exon8			CTTCCTACATCTA		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.1004A>G	14.37:g.75475839A>G	ENSP00000266126:p.Tyr335Cys		182	0	0		120	0.26	31	NM_014239	59	0.25	15	O43201	Missense_Mutation	SNP	ENST00000266126.5	37	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717071	0.89205	.	.	ENSG00000119718	ENST00000266126	D	0.96136	-3.92	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99632	1.0986	10	0.87932	D	0	-19.7697	16.0907	0.81088	1.0:0.0:0.0:0.0	.	335	P49770	EI2BB_HUMAN	C	335	ENSP00000266126:Y335C	ENSP00000266126:Y335C	Y	+	2	0	EIF2B2	74545592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.204000	0.70986	0.533000	0.62120	TAC			0.473	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414993.1		NM_014239		G	75475839	A	G	75475839	3	3	142	1	0	0	0	0	1	0	0	0	5006	391	14	4	1034	4	EIF2B2	14	75475839	Missense_Mutation	SNP	A	TCGA-ZM-AA0B-01A-11D-A435-10	9447366	75475839	31873701	42	10490											
C14orf4	64207	mdanderson.org	37	chr14	77493591	77493591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcgcggtgtggctgctgCttcccaggctcaccggcggt	2	9	16	14	5	1	0	1	0	0	0	3	0	2	0	2	5	2	4	2	5	0	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr14:77493591C>T	ENST00000238647.3	-	1	1443	c.545G>A	c.(544-546)aGc>aAc	p.S182N		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	182	Gly/Pro-rich.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTGGCTGCTGCTTCCCAGGCT	0.726																																					p.S182N													.	.			0			c.G545A												22	22	22					14																	77493591		2197	4297	6494	SO:0001583	missense	64207	exon1			CTGCTGCTTCCCA	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.545G>A	14.37:g.77493591C>T	ENSP00000238647:p.Ser182Asn		46	0	0		20	0.1	2	NM_024496	9	0	0	Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531673	0.27387	.	.	ENSG00000119669	ENST00000238647	T	0.64618	-0.11	3.66	3.66	0.41972	.	0.184703	0.25622	U	0.029417	T	0.42720	0.1215	N	0.24115	0.695	0.09310	N	0.999998	B	0.14438	0.01	B	0.11329	0.006	T	0.15954	-1.0419	10	0.30078	T	0.28	-2.873	6.9522	0.24552	0.0:0.8738:0.0:0.1262	.	182	Q9H1B7	I2BPL_HUMAN	N	182	ENSP00000238647:S182N	ENSP00000238647:S182N	S	-	2	0	IRF2BPL	76563344	0.588000	0.26799	0.993000	0.49108	0.759000	0.43091	0.909000	0.28558	1.892000	0.54788	0.298000	0.19748	AGC			0.726	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414298.1		NM_024496		T	77493591	C	T	77493591	3	4	142	1	0	0	0	0	1	0	0	0	1775	797	28	2	1849	2	C14orf4	14	77493591	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	2017752	77493591	29855949	43	10491											
ISLR2	57611	mdanderson.org	37	chr15	74427119	74427119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggacgtgcagggggAgggccttgatgaagacgcgg	9	4	20	8	3	0	4	0	2	0	2	0	6	0	6	2	5	1	1	2	5	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr15:74427119A>G	ENST00000361742.3	+	4	2793	c.2024A>G	c.(2023-2025)gAg>gGg	p.E675G	ISLR2_ENST00000445793.1_Missense_Mutation_p.E675G|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.E675G|ISLR2_ENST00000565159.1_Missense_Mutation_p.E675G|ISLR2_ENST00000453268.2_Missense_Mutation_p.E675G|ISLR2_ENST00000419208.1_Missense_Mutation_p.E675G|ISLR2_ENST00000565540.1_Missense_Mutation_p.E675G	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	675					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTGCAGGGGGAGGGCCTTGAT	0.682											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E675G													.	.			0			c.A2024G												39	45	43					15																	74427119		2198	4297	6495	SO:0001583	missense	57611	exon4			AGGGGGAGGGCCT		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.2024A>G	15.37:g.74427119A>G	ENSP00000355402:p.Glu675Gly		55	0	0	1152	57	0.11	6	NM_001130136	0		0	A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229672	0.39399	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	4.69	2.22	0.28083	.	0.336949	0.22978	U	0.053357	T	0.31670	0.0804	N	0.24115	0.695	0.42835	D	0.994038	B	0.06786	0.001	B	0.09377	0.004	T	0.06862	-1.0803	10	0.29301	T	0.29	.	4.8355	0.13462	0.6599:0.1608:0.1793:0.0	.	675	Q6UXK2	ISLR2_HUMAN	G	675;675;675;675;264;675	ENSP00000403244:E675G;ENSP00000355402:E675G;ENSP00000411443:E675G;ENSP00000411834:E675G;ENSP00000408872:E675G	ENSP00000355402:E675G	E	+	2	0	ISLR2	72214172	1.000000	0.71417	0.424000	0.26647	0.229000	0.25112	2.064000	0.41432	0.653000	0.30826	0.260000	0.18958	GAG			0.682	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269046.1		NM_020851		G	74427119	A	G	74427119	3	3	142	1	0	0	0	0	1	0	0	0	7874	304	11	4	2026	4	ISLR2	15	74427119	Missense_Mutation	SNP	A	TCGA-ZM-AA0B-01A-11D-A435-10		74427119	28104273	44	10492											
IQGAP1	8826	mdanderson.org	37	chr15	90991921	90991921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagcaacagaatagcGactggtacttgaagcagctc	13	7	11	10	1	0	2	0	1	0	1	1	4	0	2	0	1	7	5	0	1	5	3	rs138254672	byFrequency	TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr15:90991921G>T	ENST00000268182.5	+	10	1154	c.1030G>T	c.(1030-1032)Gac>Tac	p.D344Y	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	344					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACAGAATAGCGACTGGTACTT	0.478																																					p.D344Y													.	.			0			c.G1030T												52	50	51					15																	90991921		2198	4298	6496	SO:0001583	missense	8826	exon10			AATAGCGACTGGT	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1030G>T	15.37:g.90991921G>T	ENSP00000268182:p.Asp344Tyr		85	0	0		45	0.07	3	NM_003870	3	0	0	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247119	0.39697	.	.	ENSG00000140575	ENST00000268182	T	0.06687	3.27	5.32	5.32	0.75619	.	0.118844	0.56097	D	0.000024	T	0.11793	0.0287	L	0.59436	1.845	0.80722	D	1	B	0.31931	0.347	B	0.33121	0.158	T	0.01363	-1.1374	10	0.62326	D	0.03	-22.824	13.1608	0.59542	0.0:0.0:0.8406:0.1594	.	344	P46940	IQGA1_HUMAN	Y	344	ENSP00000268182:D344Y	ENSP00000268182:D344Y	D	+	1	0	IQGAP1	88792925	1.000000	0.71417	0.986000	0.45419	0.747000	0.42532	5.152000	0.64882	2.767000	0.95098	0.563000	0.77884	GAC			0.478	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313493.1		NM_003870		T	90991921	G	T	90991921	3	4	142	1	0	0	0	0	1	0	0	0	7829	1058	37	1	1068	1	IQGAP1	15	90991921	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	16564802	90991921	11539471	45	10493											
NTN3	4917	mdanderson.org	37	chr16	2522076	2522076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtgagcctgcgcttctGctcagctcccccagcctccg	3	10	9	19	3	2	1	1	1	1	0	5	1	4	1	5	0	5	3	5	0	0	2			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr16:2522076G>T	ENST00000293973.1	+	1	577	c.374G>T	c.(373-375)tGc>tTc	p.C125F		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	125	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGCGCTTCTGCTCAGCTCCC	0.662																																					p.C125F													.	.			0			c.G374T												27	32	30					16																	2522076		2198	4298	6496	SO:0001583	missense	4917	exon1			GCTTCTGCTCAGC	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.374G>T	16.37:g.2522076G>T	ENSP00000293973:p.Cys125Phe		31	0	0		19	0.16	3	NM_006181	0		0		Missense_Mutation	SNP	ENST00000293973.1	37	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435663	0.62955	.	.	ENSG00000162068	ENST00000293973	T	0.74842	-0.88	3.97	3.97	0.46021	Laminin, N-terminal (3);	0.119841	0.56097	D	0.000023	D	0.84588	0.5505	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82839	-0.0259	10	0.10902	T	0.67	.	14.7814	0.69769	0.0:0.0:1.0:0.0	.	125	O00634	NET3_HUMAN	F	125	ENSP00000293973:C125F	ENSP00000293973:C125F	C	+	2	0	NTN3	2462077	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	7.588000	0.82629	2.055000	0.61198	0.462000	0.41574	TGC			0.662	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250812.1		NM_006181		T	2522076	G	T	2522076	3	4	142	1	0	0	0	0	1	0	0	0	10718	1319	46	2	376	2	NTN3	16	2522076	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		2522076	87832677	46	10494											
PPL	5493	broad.mit.edu	37	chr16	4934417	4934417	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgcgctcggcctccctGcgggcctgccgctcgcgctc	1	7	12	21	7	0	0	0	0	0	0	5	0	1	0	5	2	2	3	5	2	0	0			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr16:4934417G>T	ENST00000345988.2	-	22	4328	c.4239C>A	c.(4237-4239)cgC>cgA	p.R1413R	PPL_ENST00000590782.2_Silent_p.R1411R	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1413					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						CGGCCTCCCTGCGGGCCTGCC	0.692																																					p.R1413R													.	PPL	168		0			c.C4239A												27	30	29					16																	4934417		2100	4204	6304	SO:0001819	synonymous_variant	5493	exon22			CTCCCTGCGGGCC	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.4239C>A	16.37:g.4934417G>T			56	0	0		47	0.06	3	NM_002705	0		0	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																					0.692	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251715.1		NM_002705		T	4934417	G	T	4934417	2	4	142	1	0	0	0	0	0	0	0	1	12354	1306	46	2		2	PPL	16	4934417	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	2412341	4934417	85420336	47	10495											
ABCC12	94160	mdanderson.org	37	chr16	48180307	48180307	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgctggtccagatctGagataaggtagggtccttca	8	10	13	10	1	2	2	1	1	1	2	5	3	4	2	3	4	0	2	3	4	2	3			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr16:48180307G>T	ENST00000311303.3	-	1	374	c.29C>A	c.(28-30)tCa>tAa	p.S10*	ABCC12_ENST00000448542.1_Nonsense_Mutation_p.S10*|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.S10*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	10						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)				GTCCAGATCTGAGATAAGGTA	0.557																																					p.S10X													.	.			0			c.C29A												109	97	101					16																	48180307		2201	4300	6501	SO:0001587	stop_gained	94160	exon1			AGATCTGAGATAA	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.29C>A	16.37:g.48180307G>T	ENSP00000311030:p.Ser10*		75	0.0133333333	1		44	0.07	3	NM_033226	0		0	Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	36	5.903651	0.97087	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	.	.	.	5.41	5.41	0.78517	.	0.267128	0.31010	N	0.008439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6957	0.69121	0.0:0.0:1.0:0.0	.	.	.	.	X	10	.	ENSP00000311030:S10X	S	-	2	0	ABCC12	46737808	0.998000	0.40836	0.999000	0.59377	0.965000	0.64279	4.108000	0.57817	2.499000	0.84300	0.609000	0.83330	TCA			0.557	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256837.1		NM_033226		T	48180307	G	T	48180307	4	4	142	1	0	0	0	0	0	1	0	0	52	1294	45	3	4166	3	ABCC12	16	48180307	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	43245890	48180307	42174446	48	10496											
ARL2BP	23568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr16	57283712	57283712	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatacattgaagaacagCtgctgcagcggattcctgag	15	8	10	8	1	0	3	0	2	0	1	1	4	1	4	1	1	6	3	1	1	5	3			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr16:57283712C>T	ENST00000219204.3	+	4	511	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	ARL2BP_ENST00000562023.1_Silent_p.L41L|RP11-407G23.3_ENST00000564376.1_RNA|RP11-407G23.4_ENST00000562409.1_RNA	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	81					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						TGAAGAACAGCTGCTGCAGCG	0.398																																					p.L81L													.	.			0			c.C241T												148	147	147					16																	57283712		2198	4300	6498	SO:0001819	synonymous_variant	23568	exon4			GAACAGCTGCTGC	AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"binder of Arl2"	615407	"retinitis pigmentosa 66 (autosomal recessive)"	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.241C>T	16.37:g.57283712C>T			62	0	0		58	0.12	7	NM_012106	7	0	0	B3KQJ5|Q504R0	Silent	SNP	ENST00000219204.3	37	CCDS10776.1																																																																																					0.398	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257334.2		NM_012106		T	57283712	C	T	57283712	2	4	142	1	0	0	0	0	0	0	0	1	934	796	28	2		2	ARL2BP	16	57283712	Silent	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	9103405	57283712	33071041	49	10497											
GALNS	2588	mdanderson.org	37	chr16	88884506	88884506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgaggtgatcctgctgaggGcctcctggtactcggcgctg	4	9	15	13	3	0	2	0	2	0	0	3	3	2	2	4	4	2	3	4	4	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr16:88884506G>T	ENST00000268695.5	-	13	1479	c.1391C>A	c.(1390-1392)gCc>gAc	p.A464D	GALNS_ENST00000542788.1_Missense_Mutation_p.A389D	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	464					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		CCTGCTGAGGGCCTCCTGGTA	0.667																																					p.A464D	GBM(129;1929 2344 25209 33204)												.	.			0			c.C1391A												59	45	50					16																	88884506		2180	4284	6464	SO:0001583	missense	2588	exon13			CTGAGGGCCTCCT	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1391C>A	16.37:g.88884506G>T	ENSP00000268695:p.Ala464Asp		27	0	0		18	0.11	2	NM_000512	19	0	0	Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154232	0.57259	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.90133	-2.62;-2.62	5.11	1.88	0.25563	Alkaline-phosphatase-like, core domain (1);	0.382396	0.28784	N	0.014148	D	0.87589	0.6215	L	0.52573	1.65	0.09310	N	0.999996	P;P	0.52577	0.954;0.954	P;P	0.46758	0.526;0.526	T	0.79150	-0.1922	10	0.42905	T	0.14	.	8.4753	0.33009	0.3547:0.0:0.6453:0.0	.	464;464	B2R6P1;P34059	.;GALNS_HUMAN	D	464;389	ENSP00000268695:A464D;ENSP00000438197:A389D	ENSP00000268695:A464D	A	-	2	0	GALNS	87412007	0.002000	0.14202	0.029000	0.17559	0.038000	0.13279	0.192000	0.17096	0.125000	0.18397	-0.379000	0.06801	GCC			0.667	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269543.1				T	88884506	G	T	88884506	3	4	142	1	0	0	0	0	1	0	0	0	6220	1203	42	2	185	2	GALNS	16	88884506	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	31600794	88884506	1470247	50	10498											
POLR2A	5430	ucsc.edu	37	chr17	7415174	7415174	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccctggagcgggagctGtaccacgtcatctcctttga	8	9	12	12	2	2	1	1	1	1	0	3	3	2	3	3	3	3	2	3	3	2	2			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr17:7415174G>T	ENST00000322644.6	+	25	4545	c.4146G>T	c.(4144-4146)ctG>ctT	p.L1382L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1382					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)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.L1382L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AGCGGGAGCTGTACCACGTCA	0.587																																					p.L1382L													POLR2A,NS,carcinoma,0,1	POLR2A	157	1	1	Substitution - coding silent(1)	kidney(1)	c.G4146T												138	117	124					17																	7415174		2203	4300	6503	SO:0001819	synonymous_variant	5430	exon25			GGAGCTGTACCAC			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4146G>T	17.37:g.7415174G>T			57	0	0		44	0.09	4	NM_000937	12	0	0	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																					0.587	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437967.1		NM_000937		T	7415174	G	T	7415174	2	4	142	1	0	0	0	0	0	0	0	1	12231	1364	48	3		3	POLR2A	17	7415174	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		7415174	73780036	51	10499											
MYH13	8735	mdanderson.org	37	chr17	10204986	10204986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagctcatgctggactctcCggcatctggacagctgcgtg	6	10	12	13	2	3	0	1	0	2	0	4	2	3	2	1	3	4	4	1	3	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr17:10204986C>T	ENST00000418404.3	-	39	5865	c.5702G>A	c.(5701-5703)cGg>cAg	p.R1901Q	MYH13_ENST00000252172.4_Missense_Mutation_p.R1901Q|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1901					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)	p.R1901L(2)		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						CTGGACTCTCCGGCATCTGGA	0.627																																					p.R1901Q													MYH13_ENST00000252172,NS,carcinoma,0,6	MYH13_ENST00000252172	0	6	2	Substitution - Missense(2)	lung(2)	c.G5702A												53	57	56					17																	10204986		2203	4300	6503	SO:0001583	missense	8735	exon40			ACTCTCCGGCATC	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.5702G>A	17.37:g.10204986C>T	ENSP00000404570:p.Arg1901Gln		42	0	0		23	0.13	3	NM_003802	19	0	0	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274421	0.95459	.	.	ENSG00000006788	ENST00000252172	D	0.84873	-1.91	3.76	3.76	0.43208	Myosin tail (1);	.	.	.	.	D	0.95242	0.8457	H	0.98256	4.185	0.38704	D	0.953053	D	0.89917	1.0	D	0.97110	1.0	D	0.98256	1.0496	9	0.87932	D	0	.	16.1271	0.81402	0.0:1.0:0.0:0.0	.	1901	Q9UKX3	MYH13_HUMAN	Q	1901	ENSP00000252172:R1901Q	ENSP00000252172:R1901Q	R	-	2	0	MYH13	10145711	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.564000	0.82326	2.097000	0.63578	0.484000	0.47621	CGG			0.627	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		T	10204986	C	T	10204986	3	4	142	1	0	0	0	0	1	0	0	0	10048	652	23	1	122	1	MYH13	17	10204986	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	2789812	10204986	70990224	52	10500											
CNP	1267	mdanderson.org	37	chr17	40125922	40125922	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggaaggggggcgccttgCagtcctgcaccatcatatga	8	7	14	12	2	1	1	1	1	0	0	2	2	2	2	4	4	2	2	4	4	2	2			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr17:40125922C>T	ENST00000393892.3	+	4	1390	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	CNP_ENST00000393888.1_Nonsense_Mutation_p.Q396*|CNP_ENST00000591072.1_Nonsense_Mutation_p.Q181*|CNP_ENST00000472031.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	416					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGCGCCTTGCAGTCCTGCAC	0.567																																					p.Q416X													.	.			0			c.C1246T												33	37	36					17																	40125922		1964	4141	6105	SO:0001587	stop_gained	1267	exon4			GCCTTGCAGTCCT		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.1246C>T	17.37:g.40125922C>T	ENSP00000377470:p.Gln416*		9	0	0		17	0.12	2	NM_033133	42	0	0		Nonsense_Mutation	SNP	ENST00000393892.3	37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000402	0.74818	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	.	.	.	5.19	4.21	0.49690	.	0.355194	0.20558	N	0.089975	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-25.7495	7.287	0.26344	0.2062:0.7062:0.0:0.0876	.	.	.	.	X	416;292;396	.	ENSP00000309643:Q292X	Q	+	1	0	CNP	37379448	0.981000	0.34729	0.970000	0.41538	0.802000	0.45316	2.416000	0.44644	2.426000	0.82243	0.561000	0.74099	CAG			0.567	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257443.2				T	40125922	C	T	40125922	4	4	142	1	0	0	0	0	0	1	0	0	3628	711	25	2	1260	2	CNP	17	40125922	Nonsense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	29920936	40125922	41069288	53	10501											
HELZ	9931	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	65119087	65119087	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcgaatgtccacttacaGgtaaaggcaccgacataact	14	10	7	10	2	0	0	0	0	0	0	2	2	1	0	2	2	2	2	2	2	5	4			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr17:65119087G>C	ENST00000358691.5	-	26	3795	c.3629C>G	c.(3628-3630)cCt>cGt	p.P1210R	HELZ_ENST00000580168.1_Splice_Site_p.P1211R	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1210						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)			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)					TCCACTTACAGGTAAAGGCAC	0.368																																					p.P1210R													.	.			0			c.C3629G												107	98	101					17																	65119087		1842	4090	5932	SO:0001630	splice_region_variant	9931	exon26			CTTACAGGTAAAG	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.3630+1C>G	17.37:g.65119087G>C			88	0	0		93	0.18	17	NM_014877	8	0.75	6	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.671958	0.47781	.	.	ENSG00000198265	ENST00000358691	D	0.85258	-1.96	5.51	5.51	0.81932	.	0.155894	0.64402	D	0.000014	D	0.89791	0.6817	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63597	0.916;0.916	D	0.89788	0.3966	10	0.59425	D	0.04	-5.4562	19.7791	0.96410	0.0:0.0:1.0:0.0	.	1211;1210	B7ZLW2;P42694	.;HELZ_HUMAN	R	1210	ENSP00000351524:P1210R	ENSP00000351524:P1210R	P	-	2	0	HELZ	62549549	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.283000	0.78640	2.737000	0.93849	0.655000	0.94253	CCT			0.368	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000447068.1		NM_014877	Missense_Mutation	C	65119087	G	C	65119087	5	2	142	1	0	0	0	0	0	0	1	0	7064	1014	35	5	2231	5	HELZ	17	65119087	Splice_Site	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	24993165	65119087	16076123	54	10502											
GALK1	2584	mdanderson.org	37	chr17	73759111	73759111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctgcagtcaatgagcaGcgcgtggcctttctgtccca	8	9	10	14	2	2	1	1	1	1	0	3	1	3	1	3	1	4	2	3	1	2	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr17:73759111G>T	ENST00000588479.1	-	4	1169	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	GALK1_ENST00000437911.1_Missense_Mutation_p.L229M|GALK1_ENST00000225614.2_Missense_Mutation_p.L199M			P51570	GALK1_HUMAN	galactokinase 1	199					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAATGAGCAGCGCGTGGCCT	0.652																																					p.L199M													.	.			0			c.C595A												59	48	51					17																	73759111		2203	4300	6503	SO:0001583	missense	2584	exon4			TGAGCAGCGCGTG		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.595C>A	17.37:g.73759111G>T	ENSP00000465930:p.Leu199Met		42	0	0		31	0.1	3	NM_000154	35	0	0	B2RC07|B4E1G6	Missense_Mutation	SNP	ENST00000588479.1	37	CCDS11728.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857458	0.32791	.	.	ENSG00000108479	ENST00000225614;ENST00000437911;ENST00000375188	D;D	0.85088	-1.94;-1.94	5.53	3.54	0.40534	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.068084	0.64402	D	0.000011	D	0.82981	0.5155	L	0.48174	1.505	0.46356	D	0.999009	P	0.40180	0.705	P	0.45913	0.497	T	0.79600	-0.1736	10	0.40728	T	0.16	-3.6497	10.3777	0.44092	0.2116:0.0:0.7884:0.0	.	199	P51570	GALK1_HUMAN	M	199;229;302	ENSP00000225614:L199M;ENSP00000406305:L229M	ENSP00000225614:L199M	L	-	1	2	GALK1	71270706	0.855000	0.29742	0.991000	0.47740	0.794000	0.44872	1.316000	0.33620	0.710000	0.31997	0.555000	0.69702	CTG			0.652	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448430.1				T	73759111	G	T	73759111	3	4	142	1	0	0	0	0	1	0	0	0	6217	962	34	2	603	2	GALK1	17	73759111	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	8640024	73759111	7436099	55	10503											
TMEM200C	645369	mdanderson.org	37	chr18	5892041	5892041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctggcggaaatccttaGcaggccgccggtggcgatca	7	9	13	12	4	2	0	1	0	1	0	3	2	3	1	3	5	1	1	3	5	2	2			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr18:5892041G>T	ENST00000581347.2	-	3	667	c.22C>A	c.(22-24)Cta>Ata	p.L8I	RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.L8I|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	8						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GAAATCCTTAGCAGGCCGCCG	0.627																																					p.L8I													.	.			0			c.C22A												39	41	41					18																	5892041		2010	4186	6196	SO:0001583	missense	645369	exon1			TCCTTAGCAGGCC		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.22C>A	18.37:g.5892041G>T	ENSP00000463375:p.Leu8Ile		36	0	0		20	0.1	2	NM_001080209	2	0	0		Missense_Mutation	SNP	ENST00000581347.2	37	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162741	0.57368	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	3.0	0.34707	.	0.000000	0.64402	D	0.000004	T	0.46927	0.1418	N	0.12182	0.205	0.39894	D	0.973801	D	0.89917	1.0	D	0.87578	0.998	T	0.37934	-0.9684	9	0.10636	T	0.68	-13.8643	8.7918	0.34854	0.3023:0.0:0.6977:0.0	.	8	A6NKL6	T200C_HUMAN	I	8	.	ENSP00000372982:L8I	L	-	1	2	TMEM200C	5882041	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.463000	0.53050	1.155000	0.42497	-0.252000	0.11476	CTA			0.627	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441917.4		NM_001080209		T	5892041	G	T	5892041	3	4	142	1	0	0	0	0	1	0	0	0	16148	962	34	2	1847	2	TMEM200C	18	5892041	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		5892041	72185207	56	10504											
LAMA1	284217	mdanderson.org	37	chr18	7040215	7040215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtataaccttccttacatgGgcactgacctggctgcttcc	7	13	8	13	0	0	1	0	1	0	0	2	1	2	1	4	2	3	4	4	2	3	5			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr18:7040215G>T	ENST00000389658.3	-	10	1375	c.1282C>A	c.(1282-1284)Cca>Aca	p.P428T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	428	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCCTTACATGGGCACTGACCT	0.478																																					p.P428T													.	.			0			c.C1282A												137	124	128					18																	7040215		2203	4300	6503	SO:0001583	missense	284217	exon10			TACATGGGCACTG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1282C>A	18.37:g.7040215G>T	ENSP00000374309:p.Pro428Thr		62	0.0161290323	1		38	0.08	3	NM_005559	0		0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550132	0.27652	.	.	ENSG00000101680	ENST00000389658	T	0.61158	0.13	5.32	4.44	0.53790	EGF-like, laminin (4);	0.599178	0.17344	N	0.177625	T	0.45597	0.1350	L	0.44542	1.39	0.31279	N	0.690811	P	0.40731	0.728	B	0.34590	0.186	T	0.48258	-0.9051	10	0.09338	T	0.73	.	15.6986	0.77521	0.0:0.1487:0.8513:0.0	.	428	P25391	LAMA1_HUMAN	T	428	ENSP00000374309:P428T	ENSP00000374309:P428T	P	-	1	0	LAMA1	7030215	0.999000	0.42202	0.963000	0.40424	0.882000	0.50991	2.455000	0.44988	1.452000	0.47756	0.655000	0.94253	CCA			0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257369.1		NM_005559		T	7040215	G	T	7040215	3	4	142	1	0	0	0	0	1	0	0	0	8620	1232	43	3	8161	3	LAMA1	18	7040215	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	1148174	7040215	71037033	57	10505											
C19orf35	374872	mdanderson.org	37	chr19	2278645	2278645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacgcggtaatacagggcgtCcccgctctctgcgcagggtg	6	7	14	14	5	1	0	0	0	1	0	3	0	2	0	2	3	2	3	2	3	2	2			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr19:2278645C>T	ENST00000342063.3	-	3	643	c.550G>A	c.(550-552)Gac>Aac	p.D184N		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)		TACAGGGCGTCCCCGCTCTCT	0.721																																					p.D184N													.	.			0			c.G550A												22	21	22					19																	2278645		2191	4287	6478	SO:0001583	missense	374872	exon3			GGGCGTCCCCGCT	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.550G>A	19.37:g.2278645C>T	ENSP00000345102:p.Asp184Asn		30	0	0		21	0.14	3	NM_198532	1	0	0		Missense_Mutation	SNP	ENST00000342063.3	37	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616969	0.28801	.	.	ENSG00000188305	ENST00000342063	T	0.28255	1.62	4.37	3.33	0.38152	.	.	.	.	.	T	0.31888	0.0811	M	0.72894	2.215	0.27788	N	0.942934	P	0.40909	0.732	B	0.37091	0.241	T	0.23048	-1.0199	9	0.72032	D	0.01	.	9.1142	0.36746	0.0:0.8945:0.0:0.1055	.	184	Q6ZS72	CS035_HUMAN	N	184	ENSP00000345102:D184N	ENSP00000345102:D184N	D	-	1	0	C19orf35	2229645	0.295000	0.24389	0.410000	0.26471	0.099000	0.18886	1.732000	0.38146	0.807000	0.34208	0.448000	0.29417	GAC			0.721	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442080.1		NM_198532		T	2278645	C	T	2278645	3	4	142	1	0	0	0	0	1	0	0	0	1922	855	30	3	879	3	C19orf35	19	2278645	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10		2278645	56850338	58	10506											
MAP2K2	5605	broad.mit.edu	37	chr19	4090612	4090612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcacacggcggtgcgcGtgggtgtgccgggctggttc	3	9	18	11	5	1	0	1	0	0	0	2	0	1	0	1	5	2	2	1	5	0	1	rs117945277		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr19:4090612G>T	ENST00000262948.5	-	11	1440	c.1187C>A	c.(1186-1188)aCg>aAg	p.T396K	MAP2K2_ENST00000394867.4_Missense_Mutation_p.T299K	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	396					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|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 autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						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)	Bosutinib(DB06616)|Trametinib(DB08911)	GGCGGTGCGCGTGGGTGTGCC	0.652																																					p.T396K													.	MAP2K2	72		0			c.C1187A												21	16	18					19																	4090612		2150	4200	6350	SO:0001583	missense	5605	exon11			GTGCGCGTGGGTG	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.1187C>A	19.37:g.4090612G>T	ENSP00000262948:p.Thr396Lys		124	0	0		102	0.03	3	NM_030662	933	0	1		Missense_Mutation	SNP	ENST00000262948.5	37	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	g	16.19	3.053134	0.55218	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	T;T	0.79141	-1.06;-1.24	3.47	3.47	0.39725	.	0.134314	0.50627	D	0.000119	T	0.81912	0.4923	L	0.58669	1.825	0.58432	D	0.999996	D	0.63880	0.993	P	0.58391	0.838	T	0.80839	-0.1203	10	0.32370	T	0.25	-21.4969	14.0581	0.64781	0.0:0.0:1.0:0.0	.	396	P36507	MP2K2_HUMAN	K	396;299	ENSP00000262948:T396K;ENSP00000378336:T299K	ENSP00000262948:T396K	T	-	2	0	MAP2K2	4041612	1.000000	0.71417	0.874000	0.34290	0.208000	0.24298	9.234000	0.95347	1.945000	0.56424	0.591000	0.81541	ACG			0.652	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258957.2				T	4090612	G	T	4090612	3	4	142	1	0	0	0	0	1	0	0	0	9253	1145	40	1	19	1	MAP2K2	19	4090612	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	1811967	4090612	55038371	59	10507											
ZNF653	115950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	11597957	11597957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctccttctttagcaaGcacaggtcctccttctctac	6	15	4	16	0	3	0	0	0	3	0	8	0	6	0	4	1	3	2	4	1	3	6			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr19:11597957G>A	ENST00000293771.5	-	5	1324	c.1188C>T	c.(1186-1188)tgC>tgT	p.C396C	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	396					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)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCTTTAGCAAGCACAGGTCCT	0.662																																					p.C396C	Pancreas(83;980 1446 4542 6441 43352)												.	.			0			c.C1188T												67	76	73					19																	11597957		2203	4300	6503	SO:0001819	synonymous_variant	115950	exon5			TAGCAAGCACAGG	AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1188C>T	19.37:g.11597957G>A			47	0	0		51	0.37	19	NM_138783	21	0.48	10	Q96AS7	Silent	SNP	ENST00000293771.5	37	CCDS12261.1																																																																																					0.662	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458836.2		NM_138783		A	11597957	G	A	11597957	2	1	142	1	0	0	0	0	0	0	0	1	18089	963	34	2		2	ZNF653	19	11597957	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	7507345	11597957	47531026	60	10508											
CYP4F11	57834	mdanderson.org	37	chr19	16025653	16025653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggactgggggatgcaaccGcaggctctccttaatgcaca	9	7	13	12	2	1	0	0	0	1	0	2	2	1	2	2	4	3	4	2	4	2	1	rs374763718		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr19:16025653G>A	ENST00000402119.4	-	9	1594	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	CYP4F11_ENST00000591841.1_Missense_Mutation_p.R65W|CYP4F11_ENST00000326742.8_Missense_Mutation_p.R390W|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R390W	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						GGATGCAACCGCAGGCTCTCC	0.587																																					p.R390W													CYP4F11,right_upper_lobe,carcinoma,+1,1	CYP4F11	1	1	0			c.C1168T												88	91	90					19																	16025653		2203	4300	6503	SO:0001583	missense	57834	exon9			GCAACCGCAGGCT	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.1168C>T	19.37:g.16025653G>A	ENSP00000384588:p.Arg390Trp		83	0	0		85	0.05	4	NM_021187	0		0		Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.955793	0.53293	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.97505	-4.41;-4.41;-4.41	2.74	1.54	0.23209	.	0.000000	0.64402	U	0.000003	D	0.98953	0.9644	H	0.99454	4.575	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97303	0.9932	10	0.87932	D	0	.	8.4361	0.32789	0.0:0.0:0.7684:0.2316	.	390;390	F8W978;Q9HBI6	.;CP4FB_HUMAN	W	390	ENSP00000384588:R390W;ENSP00000248041:R390W;ENSP00000319859:R390W	ENSP00000248041:R390W	R	-	1	2	CYP4F11	15886653	1.000000	0.71417	0.463000	0.27130	0.059000	0.15707	3.372000	0.52387	1.513000	0.48852	0.462000	0.41574	CGG			0.587	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460385.2		NM_021187		A	16025653	G	A	16025653	3	1	142	1	0	0	0	0	1	0	0	0	4188	1086	38	1	422	1	CYP4F11	19	16025653	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	4427696	16025653	43103330	61	10509											
ZNF585A	199704	hgsc.bcm.edu	37	chr19	37643935	37643935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctccagtatgaattcttCggtgtgcaatcaaatgggtc	9	15	9	8	1	3	1	1	1	2	0	6	1	3	1	1	2	1	2	1	2	4	4	rs368991030		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr19:37643935C>T	ENST00000356958.4	-	5	1124	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	ZNF585A_ENST00000355533.2_Missense_Mutation_p.R234Q|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R234Q|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R234Q			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	289					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)	p.R234Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAATTCTTCGGTGTGCAAT	0.428																																					p.R234Q													ZNF585A,colon,carcinoma,0,1	ZNF585A	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.G701A							C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	238	222	227		701,701	0.9	1	19		227	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF585A	NM_152655.2,NM_199126.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	234/715,234/715	37643935	1,13005	2203	4300	6503	SO:0001583	missense	199704	exon6			ATTCTTCGGTGTG	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.866G>A	19.37:g.37643935C>T	ENSP00000349440:p.Arg289Gln		105	0	0		124	0.04	5	NM_199126	0		0	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	0.795	-0.757467	0.03019	0.0	1.16E-4	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	3.06	0.872	0.19113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30723	N	0.009001	T	0.04137	0.0115	N	0.02412	-0.56	0.25530	N	0.98729	B	0.24186	0.099	B	0.21917	0.037	T	0.42050	-0.9474	10	0.02654	T	1	.	4.6809	0.12734	0.0:0.5832:0.0:0.4168	.	289	Q6P3V2	Z585A_HUMAN	Q	289;234;234;234	ENSP00000349440:R289Q;ENSP00000292841:R234Q;ENSP00000375998:R234Q;ENSP00000347724:R234Q	ENSP00000292841:R234Q	R	-	2	0	ZNF585A	42335775	0.000000	0.05858	0.988000	0.46212	0.176000	0.22953	-1.416000	0.02467	0.608000	0.30000	-0.291000	0.09656	CGA			0.428	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000457980.2		NM_152655		T	37643935	C	T	37643935	3	4	142	1	0	0	0	0	1	0	0	0	18040	884	31	1	1447	1	ZNF585A	19	37643935	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	21618282	37643935	21485048	62	10510											
CHGB	1114	mdanderson.org	37	chr20	5903989	5903989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgataagatggcacatgGatatggtgaagaaagtgagg	14	9	15	3	0	0	5	0	3	0	2	0	6	0	6	0	4	0	2	0	4	4	3			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr20:5903989G>T	ENST00000378961.4	+	4	1403	c.1199G>T	c.(1198-1200)gGa>gTa	p.G400V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	400						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						ATGGCACATGGATATGGTGAA	0.532																																					p.G400V													.	.			0			c.G1199T												104	104	104					20																	5903989		2203	4300	6503	SO:0001583	missense	1114	exon4			CACATGGATATGG		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.1199G>T	20.37:g.5903989G>T	ENSP00000368244:p.Gly400Val		30	0	0		16	0.19	3	NM_001819	2	0	0	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	8.909	0.958165	0.18507	.	.	ENSG00000089199	ENST00000378961	T	0.01584	4.75	5.78	2.35	0.29111	.	1.135390	0.06540	N	0.743117	T	0.05364	0.0142	L	0.57536	1.79	0.09310	N	1	D	0.54397	0.966	P	0.52109	0.69	T	0.46219	-0.9207	10	0.45353	T	0.12	-0.9551	10.237	0.43288	0.2574:0.0:0.7426:0.0	.	400	P05060	SCG1_HUMAN	V	400	ENSP00000368244:G400V	ENSP00000368244:G400V	G	+	2	0	CHGB	5851989	0.263000	0.24083	0.001000	0.08648	0.010000	0.07245	1.748000	0.38308	0.788000	0.33755	-0.140000	0.14226	GGA			0.532	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077897.2		NM_001819		T	5903989	G	T	5903989	3	4	142	1	0	0	0	0	1	0	0	0	3341	1174	41	3	1213	3	CHGB	20	5903989	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		5903989	57121531	63	10511											
ADAMTS5	11096	broad.mit.edu;mdanderson.org	37	chr21	28296507	28296507	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcacaggtcctagagcaGgcgagccatgggcccgtgac	8	6	15	12	2	1	2	1	1	0	1	2	3	2	2	3	3	2	1	3	3	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr21:28296507G>T	ENST00000284987.5	-	8	2779	c.2658C>A	c.(2656-2658)gcC>gcA	p.A886A	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	886	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCCTAGAGCAGGCGAGCCATG	0.542																																					p.A886A	Esophageal Squamous(53;683 1080 10100 14424 45938)												.	ADAMTS5	184		0			c.C2658A												85	77	80					21																	28296507		2203	4300	6503	SO:0001819	synonymous_variant	11096	exon8			AGAGCAGGCGAGC	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2658C>A	21.37:g.28296507G>T			83	0	0		80	0.05	4	NM_007038	0		0	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	CCDS13579.1																																																																																					0.542	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000171648.1				T	28296507	G	T	28296507	2	4	142	1	0	0	0	0	0	0	0	1	269	987	35	3		3	ADAMTS5	21	28296507	Silent	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		28296507	19833388	64	10512											
OSBP2	23762	mdanderson.org	37	chr22	31091149	31091149	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcggaacctgtgtccGagacgacgtctgagccggag	10	6	14	11	5	1	3	0	1	1	2	3	7	2	5	3	2	2	0	3	2	2	0	rs375188093		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr22:31091149G>T	ENST00000332585.6	+	1	357	c.253G>T	c.(253-255)Gag>Tag	p.E85*	OSBP2_ENST00000382310.3_Nonsense_Mutation_p.E85*|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.E85*	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	85					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACCTGTGTCCGAGACGACGTC	0.692																																					p.E85X													.	.			0			c.G253T												29	38	35					22																	31091149		2149	4259	6408	SO:0001587	stop_gained	23762	exon1			GTGTCCGAGACGA		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.253G>T	22.37:g.31091149G>T	ENSP00000332576:p.Glu85*		79	0	0		37	0.08	3	NM_030758	0		0	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Nonsense_Mutation	SNP	ENST00000332585.6	37	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038035	0.75617	.	.	ENSG00000184792	ENST00000332585;ENST00000382310;ENST00000446658	.	.	.	3.3	-3.62	0.04543	.	2.795030	0.01206	N	0.007710	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-3.7675	7.1795	0.25763	0.2132:0.528:0.2588:0.0	.	.	.	.	X	85	.	ENSP00000332576:E85X	E	+	1	0	OSBP2	29421149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.342000	0.07801	-0.571000	0.06014	-0.211000	0.12701	GAG			0.692	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000321547.2		NM_030758		T	31091149	G	T	31091149	4	4	142	1	0	0	0	0	0	1	0	0	11291	1059	37	1	255	1	OSBP2	22	31091149	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		31091149	20213417	65	10513											
SOX10	6663	mdanderson.org	37	chr22	38369790	38369790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgtgaggtggatggctgGtcggtgtagtgtgggggccc	4	11	20	6	1	1	1	0	1	1	0	2	2	1	2	1	7	0	2	1	7	1	1			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr22:38369790G>T	ENST00000396884.2	-	4	1395	c.1113C>A	c.(1111-1113)gaC>gaA	p.D371E	SOX10_ENST00000360880.2_Missense_Mutation_p.D371E|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	371					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TGGATGGCTGGTCGGTGTAGT	0.652																																					p.D371E	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)												.	.			0			c.C1113A												78	79	79					22																	38369790		2203	4300	6503	SO:0001583	missense	6663	exon4			TGGCTGGTCGGTG		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1113C>A	22.37:g.38369790G>T	ENSP00000380093:p.Asp371Glu		50	0	0		32	0.09	3	NM_006941	0		0	B4DV62|Q6FHW7	Missense_Mutation	SNP	ENST00000396884.2	37	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	G	1.564	-0.535856	0.04082	.	.	ENSG00000100146	ENST00000396884;ENST00000360880	T;T	0.71341	-0.56;-0.56	4.87	2.52	0.30459	.	0.115488	0.64402	D	0.000019	T	0.34687	0.0906	N	0.01668	-0.77	0.28439	N	0.916916	B	0.02656	0.0	B	0.04013	0.001	T	0.31833	-0.9929	10	0.02654	T	1	.	10.0021	0.41935	0.0776:0.3308:0.5916:0.0	.	371	P56693	SOX10_HUMAN	E	371	ENSP00000380093:D371E;ENSP00000354130:D371E	ENSP00000354130:D371E	D	-	3	2	SOX10	36699736	0.984000	0.35163	1.000000	0.80357	0.974000	0.67602	0.180000	0.16860	2.249000	0.74217	0.455000	0.32223	GAC			0.652	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313875.1		NM_006941		T	38369790	G	T	38369790	3	4	142	1	0	0	0	0	1	0	0	0	14964	1252	44	3	291	3	SOX10	22	38369790	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	7278641	38369790	12934776	66	10514											
DDX17	10521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	38895499	38895499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggcgtagctcatcaacCtcatactattgaaaaaaaat	15	12	5	9	2	3	1	3	1	0	0	4	1	3	1	1	1	3	2	1	1	8	5			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr22:38895499C>G	ENST00000396821.3	-	3	543	c.444G>C	c.(442-444)gaG>gaC	p.E148D	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.E69D	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	148					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GCTCATCAACCTCATACTATT	0.403																																					p.E148D	Ovarian(55;1085 1454 6392 21425)												.	.			0			c.G444C												119	109	112					22																	38895499		2203	4300	6503	SO:0001583	missense	10521	exon3			ATCAACCTCATAC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.444G>C	22.37:g.38895499C>G	ENSP00000380033:p.Glu148Asp		98	0	0		105	0.17	18	NM_006386	7	0	0	B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741883	0.30865	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.37752	1.18;1.18;1.18	5.44	3.11	0.35812	.	0.136644	0.64402	D	0.000003	T	0.28167	0.0695	L	0.51422	1.61	0.80722	D	1	B;B;B	0.20988	0.008;0.03;0.05	B;B;B	0.22386	0.016;0.039;0.027	T	0.08207	-1.0733	10	0.39692	T	0.17	-20.036	4.4568	0.11647	0.1509:0.5527:0.0:0.2965	.	69;150;148	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	D	148;69;148;150	ENSP00000380033:E148D;ENSP00000371046:E69D;ENSP00000385536:E148D	ENSP00000371046:E69D	E	-	3	2	DDX17	37225445	0.539000	0.26402	1.000000	0.80357	0.889000	0.51656	-0.289000	0.08365	0.492000	0.27815	-0.339000	0.08088	GAG			0.403	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000321476.2		NM_030881		G	38895499	C	G	38895499	3	3	142	1	0	0	0	0	1	0	0	0	4346	680	24	5	1795	5	DDX17	22	38895499	Missense_Mutation	SNP	C	TCGA-ZM-AA0B-01A-11D-A435-10	525709	38895499	12409067	67	10515											
FBLN1	2192	mdanderson.org	37	chr22	45958794	45958794	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccacttttcttgcagccGctgtgagcgcttgccttgcc	3	13	10	15	2	1	1	0	1	1	0	1	1	1	1	4	0	6	3	4	0	0	5			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chr22:45958794G>A	ENST00000327858.6	+	15	1792				FBLN1_ENST00000262722.7_Missense_Mutation_p.R567H|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000402984.3_Missense_Mutation_p.R605H|FBLN1_ENST00000442170.2_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						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)		TCTTGCAGCCGCTGTGAGCGC	0.612																																					p.R567H													.	.			0			c.G1700A												150	169	162					22																	45958794		2203	4300	6503	SO:0001627	intron_variant	2192	exon15			GCAGCCGCTGTGA		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.1698-11597G>A	22.37:g.45958794G>A			38	0	0		28	0.11	3	NM_001996	325	0	0	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367828	0.82463	.	.	ENSG00000077942	ENST00000402984;ENST00000262722	D;D	0.92099	-2.26;-2.97	3.93	3.93	0.45458	.	.	.	.	.	D	0.95449	0.8522	M	0.85197	2.74	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.59424	0.794;0.857	D	0.95700	0.8748	9	0.49607	T	0.09	.	16.1134	0.81278	0.0:0.0:1.0:0.0	.	605;567	B1AHL2;P23142-4	.;.	H	605;567	ENSP00000385521:R605H;ENSP00000262722:R567H	ENSP00000262722:R567H	R	+	2	0	FBLN1	44337458	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.174000	0.77620	2.036000	0.60181	0.313000	0.20887	CGC			0.612	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000322287.1		NM_006486		A	45958794	G	A	45958794	1	1	142	0	1	0	0	0	0	0	0	0	5711	1087	38	1		1	FBLN1	22	45958794	Intron	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	7063295	45958794	5345772	68	10516											
ACOT9	23597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	23740077	23740077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttaatgtcctgttctGggctcaagctcttcttacac	8	15	7	11	0	4	1	1	1	3	0	5	1	5	1	1	1	3	3	1	1	4	4			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chrX:23740077G>A	ENST00000336430.7	-	7	613	c.482C>T	c.(481-483)cCa>cTa	p.P161L	ACOT9_ENST00000379303.5_Missense_Mutation_p.P170L|ACOT9_ENST00000492081.1_Missense_Mutation_p.P101L|ACOT9_ENST00000379295.1_Missense_Mutation_p.P101L	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	161					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						GTCCTGTTCTGGGCTCAAGCT	0.398																																					p.P170L													.	.			0			c.C509T												141	111	121					X																	23740077		2203	4300	6503	SO:0001583	missense	23597	exon8			TGTTCTGGGCTCA	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.482C>T	X.37:g.23740077G>A	ENSP00000336580:p.Pro161Leu		72	0	0		67	0.28	19	NM_001037171	12	0.33	4	B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831377	0.91036	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295;ENST00000473710;ENST00000492081	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.52206	1.635	0.80722	D	1	D;P;D	0.59357	0.985;0.952;0.972	P;P;P	0.57846	0.828;0.677;0.749	T	0.16453	-1.0402	10	0.10902	T	0.67	-11.8961	17.8799	0.88837	0.0:0.0:1.0:0.0	.	128;161;170	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	L	170;161;101;87;101	ENSP00000368605:P170L;ENSP00000336580:P161L;ENSP00000368597:P101L;ENSP00000420490:P87L;ENSP00000417778:P101L	ENSP00000336580:P161L	P	-	2	0	ACOT9	23649998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.655000	0.91098	2.243000	0.73865	0.594000	0.82650	CCA			0.398	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056065.1		NM_012332		A	23740077	G	A	23740077	3	1	142	1	0	0	0	0	1	0	0	0	157	1348	47	3	873	3	ACOT9	23	23740077	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10		23740077	131530483	69	10517											
SLC6A14	11254	mdanderson.org	37	chrX	115568988	115568988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcagagaatttccatGttggtgaaaatgatgagaat	14	13	9	5	0	2	4	2	3	0	2	3	6	3	4	1	1	0	1	1	1	4	3	rs61740723		TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chrX:115568988G>T	ENST00000371900.4	+	2	167	c.79G>T	c.(79-81)Gtt>Ttt	p.V27F		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	27					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAATTTCCATGTTGGTGAAAA	0.388																																					p.V27F													.	.			0			c.G79T												171	176	174					X																	115568988		2203	4300	6503	SO:0001583	missense	11254	exon2			TTCCATGTTGGTG	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.79G>T	X.37:g.115568988G>T	ENSP00000360967:p.Val27Phe		41	0	0		43	0.07	3	NM_007231	0		0	Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371009	0.61624	.	.	ENSG00000087916	ENST00000371900	T	0.73681	-0.77	5.17	5.17	0.71159	.	0.073544	0.53938	D	0.000045	T	0.55689	0.1936	N	0.08118	0	0.51767	D	0.999938	B	0.34103	0.437	B	0.30401	0.115	T	0.62891	-0.6758	10	0.56958	D	0.05	.	14.8777	0.70507	0.0:0.0:1.0:0.0	.	27	Q9UN76	S6A14_HUMAN	F	27	ENSP00000360967:V27F	ENSP00000360967:V27F	V	+	1	0	SLC6A14	115483016	0.991000	0.36638	1.000000	0.80357	0.975000	0.68041	1.998000	0.40796	2.393000	0.81446	0.544000	0.68410	GTT			0.388	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057986.1				T	115568988	G	T	115568988	3	4	142	1	0	0	0	0	1	0	0	0	14700	1377	48	3	85	3	SLC6A14	23	115568988	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	91828911	115568988	39701572	70	10518											
FAM3A	60343	mdanderson.org	37	chrX	153736636	153736636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgttcaccagggcgatGttcagcccgcggcccacgtt	6	8	11	16	5	3	0	3	0	0	0	3	1	3	0	4	2	1	3	4	2	0	3			TCGA-ZM-AA0B-01A-11D-A435-10	TCGA-ZM-AA0B-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	084a80d6-bc9b-40e7-8964-49d8f56e651f	c4912418-4a95-409b-8512-ac4c94533b97	g.chrX:153736636G>T	ENST00000447601.2	-	5	784	c.318C>A	c.(316-318)aaC>aaA	p.N106K	FAM3A_ENST00000369643.1_Missense_Mutation_p.N106K|FAM3A_ENST00000393572.1_Missense_Mutation_p.N68K|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000369641.3_Missense_Mutation_p.N106K|FAM3A_ENST00000434658.2_Missense_Mutation_p.N106K|FAM3A_ENST00000359889.5_Missense_Mutation_p.N106K	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	106						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	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)					CCAGGGCGATGTTCAGCCCGC	0.687																																					p.N106K													.	.			0			c.C318A												19	17	17					X																	153736636		1942	3799	5741	SO:0001583	missense	60343	exon5			GGCGATGTTCAGC	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.318C>A	X.37:g.153736636G>T	ENSP00000416146:p.Asn106Lys		8	0	0		11	0.18	2	NM_001171134	31	0	0	A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015274	0.75161	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572;ENST00000426266	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.03	5.03	0.67393	.	0.045175	0.85682	D	0.000000	T	0.49338	0.1551	M	0.89904	3.07	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	0.997;1.0;0.999;0.999	T	0.56426	-0.7981	10	0.87932	D	0	.	7.1389	0.25543	0.199:0.0:0.801:0.0	.	106;106;120;106	B4DFI8;Q5HY75;D3DWX8;P98173	.;.;.;FAM3A_HUMAN	K	106;106;106;106;106;68;106	ENSP00000396243:N106K;ENSP00000352955:N106K;ENSP00000358657:N106K;ENSP00000416146:N106K;ENSP00000358655:N106K;ENSP00000377202:N68K;ENSP00000396845:N106K	ENSP00000352955:N106K	N	-	3	2	FAM3A	153389830	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.125000	0.50469	2.073000	0.62155	0.529000	0.55759	AAC			0.687	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000037362.2				T	153736636	G	T	153736636	3	4	142	1	0	0	0	0	1	0	0	0	5569	1368	48	3	394	3	FAM3A	23	153736636	Missense_Mutation	SNP	G	TCGA-ZM-AA0B-01A-11D-A435-10	38167648	153736636	1533924	71	10519											
AGBL4	84871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	50163073	50163073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctaatgaacagatcatacTcaaactcagagacctggtcc	14	8	7	12	0	3	3	3	1	0	2	4	4	4	3	3	1	3	0	3	1	4	2			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr1:50163073T>C	ENST00000371839.1	-	3	310	c.194A>G	c.(193-195)gAg>gGg	p.E65G	AGBL4_ENST00000497451.1_5'UTR|AGBL4_ENST00000371836.1_Missense_Mutation_p.E65G|AGBL4_ENST00000371838.1_Missense_Mutation_p.E65G	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	65					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CAGATCATACTCAAACTCAGA	0.423																																					p.E65G													.	.			0			c.A194G												133	116	121					1																	50163073		692	1590	2282	SO:0001583	missense	84871	exon3			TCATACTCAAACT	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.194A>G	1.37:g.50163073T>C	ENSP00000360905:p.Glu65Gly		262	0	0		347	0.1	33	NM_032785	1	0	0	B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.910585	0.92107	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836	T;T;T	0.34275	1.37;1.37;1.37	5.84	5.84	0.93424	.	0.104310	0.41823	D	0.000803	T	0.73575	0.3604	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.83427	0.0036	9	.	.	.	-13.766	16.2231	0.82269	0.0:0.0:0.0:1.0	.	65;65	Q5VU57-2;Q5VU57	.;CBPC6_HUMAN	G	65;59;65;65	ENSP00000360905:E65G;ENSP00000360904:E65G;ENSP00000360902:E65G	.	E	-	2	0	AGBL4	49935660	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.412000	0.80091	2.235000	0.73313	0.377000	0.23210	GAG			0.423	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021346.4		NM_032785		C	50163073	T	C	50163073	3	2	143	1	0	0	0	0	1	0	0	0	377	1551	54	4	1365	4	AGBL4	1	50163073	Missense_Mutation	SNP	T	TCGA-ZM-AA0D-01A-11D-A435-10		50163073	199087548	1	10520											
VASH2	79805	mdanderson.org	37	chr1	213125107	213125107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacgtggccaaggtgcacCctaaggggggagaaatggtg	10	6	17	8	1	0	1	0	0	0	1	0	2	0	1	2	6	2	2	2	6	3	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr1:213125107C>A	ENST00000517399.1	+	1	223	c.223C>A	c.(223-225)Cct>Act	p.P75T	VASH2_ENST00000366968.4_Missense_Mutation_p.P10T|VASH2_ENST00000366965.2_Missense_Mutation_p.P75T|VASH2_ENST00000271776.4_Intron|VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000366966.2_Missense_Mutation_p.P10T|VASH2_ENST00000366967.2_Intron			Q86V25	VASH2_HUMAN	vasohibin 2	75					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		CAAGGTGCACCCTAAGGGGGG	0.637																																					p.P75T													.	.			0			c.C223A												39	34	36					1																	213125107		2203	4299	6502	SO:0001583	missense	79805	exon2			GTGCACCCTAAGG	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.223C>A	1.37:g.213125107C>A	ENSP00000428324:p.Pro75Thr		57	0	0		35	0.09	3	NM_024749	0		0	B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162616	0.94727	.	.	ENSG00000143494	ENST00000366966;ENST00000366968;ENST00000490792;ENST00000366965;ENST00000517399	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.67397	2.05	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	0.81138	-0.1069	9	0.87932	D	0	-6.8405	17.8368	0.88700	0.0:1.0:0.0:0.0	.	75;75;75	Q86V25;Q86V25-5;Q86V25-4	VASH2_HUMAN;.;.	T	10;10;10;75;75	.	ENSP00000355932:P75T	P	+	1	0	VASH2	211191730	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.940000	0.75917	2.363000	0.80096	0.563000	0.77884	CCT			0.637	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381686.1		NM_024749		A	213125107	C	A	213125107	3	1	143	1	0	0	0	0	1	0	0	0	17150	623	22	3	225	3	VASH2	1	213125107	Missense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10	162962034	213125107	36125514	2	10521											
GNPAT	8443	mdanderson.org	37	chr1	231396280	231396280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaatcccttcaatctgtgGatgtcctccgagaggaagtg	10	10	12	9	1	2	1	1	0	1	1	5	5	5	4	3	3	0	0	3	3	3	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr1:231396280G>T	ENST00000366647.4	+	3	458	c.289G>T	c.(289-291)Gat>Tat	p.D97Y	GNPAT_ENST00000366646.3_Missense_Mutation_p.D36Y	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	97					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)				TCAATCTGTGGATGTCCTCCG	0.408																																					p.D97Y													.	.			0			c.G289T												184	190	188					1																	231396280		2203	4300	6503	SO:0001583	missense	8443	exon3			TCTGTGGATGTCC	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.289G>T	1.37:g.231396280G>T	ENSP00000355607:p.Asp97Tyr		33	0	0		42	0.07	3	NM_014236	3	0	0	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884231	0.72410	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.86956	-2.19;-0.2;-0.21;-0.18	5.98	2.9	0.33743	.	0.154925	0.56097	D	0.000026	D	0.88168	0.6364	L	0.53249	1.67	0.50632	D	0.999884	D;P	0.56521	0.976;0.773	P;P	0.54706	0.759;0.664	D	0.87903	0.2692	10	0.87932	D	0	.	10.8048	0.46512	0.0664:0.2469:0.6867:0.0	.	36;97	B4DNM9;O15228	.;GNPAT_HUMAN	Y	36;97;36;97	ENSP00000402811:D36Y;ENSP00000355607:D97Y;ENSP00000355606:D36Y;ENSP00000411640:D97Y	ENSP00000355606:D36Y	D	+	1	0	GNPAT	229462903	1.000000	0.71417	0.716000	0.30569	0.828000	0.46876	7.593000	0.82686	0.836000	0.34901	0.563000	0.77884	GAT			0.408	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092871.1				T	231396280	G	T	231396280	3	4	143	1	0	0	0	0	1	0	0	0	6555	1174	41	3	299	3	GNPAT	1	231396280	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	18271173	231396280	17854341	3	10522											
ALK	238	mdanderson.org	37	chr2	30143262	30143262	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccagagctagcgagccGcgggcctcgggcctgccagc	6	4	15	16	4	0	1	0	0	0	1	2	2	1	1	5	2	5	1	5	2	1	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr2:30143262G>T	ENST00000389048.3	-	1	1170	c.264C>A	c.(262-264)cgC>cgA	p.R88R	ALK_ENST00000431873.1_Silent_p.R88R	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	88					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)	CTAGCGAGCCGCGGGCCTCGG	0.716			"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																												p.R88R			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	.	.			0			c.C264A												12	14	13					2																	30143262		2177	4244	6421	SO:0001819	synonymous_variant	238	exon1	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	CGAGCCGCGGGCC	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.264C>A	2.37:g.30143262G>T			33	0	0		37	0.08	3	NM_004304	0		0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																					0.716	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324994.1		NM_004304		T	30143262	G	T	30143262	2	4	143	1	0	0	0	0	0	0	0	1	525	1074	38	1		1	ALK	2	30143262	Silent	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		30143262	213056111	4	10523											
RANBP2	5903	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	109382856	109382856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatcttgcaaaatcaaCttcaggagaaggatttcagt	14	11	9	7	0	4	2	3	0	1	2	4	4	4	3	0	2	3	2	0	2	4	3			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr2:109382856C>T	ENST00000283195.6	+	20	5987	c.5861C>T	c.(5860-5862)aCt>aTt	p.T1954I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1954					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						GCAAAATCAACTTCAGGAGAA	0.418																																					p.T1954I													.	RANBP2	488		0			c.C5861T												106	115	112					2																	109382856		2188	4284	6472	SO:0001583	missense	5903	exon20			AATCAACTTCAGG	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.5861C>T	2.37:g.109382856C>T	ENSP00000283195:p.Thr1954Ile		872	0	0		1062	0.07	79	NM_006267	4	0	0	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	9.563	1.118997	0.20877	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27890	1.64	5.34	3.49	0.39957	.	.	.	.	.	T	0.26304	0.0642	L	0.44542	1.39	0.22500	N	0.999044	B	0.10296	0.003	B	0.08055	0.003	T	0.18713	-1.0328	9	0.49607	T	0.09	-4.7021	9.1494	0.36953	0.2735:0.6558:0.0:0.0707	.	1954	P49792	RBP2_HUMAN	I	978;1954	ENSP00000283195:T1954I	ENSP00000283195:T1954I	T	+	2	0	RANBP2	108749288	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	3.789000	0.55454	0.674000	0.31244	0.557000	0.71058	ACT			0.418	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253594.1		NM_006267		T	109382856	C	T	109382856	3	4	143	1	0	0	0	0	1	0	0	0	13051	565	20	3	5939	3	RANBP2	2	109382856	Missense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10	79239594	109382856	133816517	5	10524											
ATP2B2	491	mdanderson.org	37	chr3	10426999	10426999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcatttgaagctgccGcaccgtctgctgctgcaggg	6	9	13	13	2	1	1	0	1	1	0	1	1	1	1	2	1	7	7	2	1	1	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr3:10426999G>A	ENST00000352432.4	-	7	1022	c.953C>T	c.(952-954)gCg>gTg	p.A318V	ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000383800.4_Intron|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A318V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A318V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	318					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						TGAAGCTGCCGCACCGTCTGC	0.547																																					p.A318V	Ovarian(125;1619 1709 15675 19819 38835)												.	.			0			c.C953T												54	47	50					3																	10426999		2203	4300	6503	SO:0001583	missense	491	exon8			GCTGCCGCACCGT	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.953C>T	3.37:g.10426999G>A	ENSP00000324172:p.Ala318Val		38	0.0263157895	1		46	0.07	3	NM_001001331	0		0	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305935	0.40795	.	.	ENSG00000157087	ENST00000352432;ENST00000360273;ENST00000343816;ENST00000342354	D;D;D	0.92149	-2.94;-2.94;-2.98	5.34	3.52	0.40303	ATPase, P-type, ATPase-associated domain (1);	0.820878	0.10281	N	0.693572	D	0.84334	0.5449	N	0.08118	0	0.45464	D	0.998431	P	0.44260	0.83	B	0.43155	0.41	T	0.75105	-0.3435	10	0.28530	T	0.3	-13.2372	10.8322	0.46667	0.0714:0.1312:0.7974:0.0	.	318	Q01814	AT2B2_HUMAN	V	318	ENSP00000324172:A318V;ENSP00000353414:A318V;ENSP00000344677:A318V	ENSP00000342954:A318V	A	-	2	0	ATP2B2	10401999	1.000000	0.71417	0.975000	0.42487	0.708000	0.40852	4.972000	0.63756	0.610000	0.30035	-0.379000	0.06801	GCG			0.547	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000250576.2		NM_001683		A	10426999	G	A	10426999	3	1	143	1	0	0	0	0	1	0	0	0	1140	1087	38	1	2842	1	ATP2B2	3	10426999	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		10426999	187595431	6	10525											
STT3B	201595	mdanderson.org	37	chr3	31641852	31641852	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcacttcttttcctatagGtctctgcttggggtggttat	5	18	10	8	0	2	0	0	0	2	0	4	0	3	0	1	4	2	3	1	4	4	8			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr3:31641852G>T	ENST00000295770.2	+	5	987	c.778G>T	c.(778-780)Gtc>Ttc	p.V260F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	260					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						TTTCCTATAGGTCTCTGCTTG	0.294																																					p.V260F													.	.			0			c.G778T												151	136	141					3																	31641852		2203	4298	6501	SO:0001630	splice_region_variant	201595	exon5			CTATAGGTCTCTG	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.778-1G>T	3.37:g.31641852G>T			40	0	0		37	0.08	3	NM_178862	9	0	0	Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836656	0.91117	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	M	0.93328	3.405	0.80722	D	1	P	0.50617	0.937	P	0.55345	0.774	D	0.87723	0.2574	8	.	.	.	-4.7059	18.7792	0.91925	0.0:0.0:1.0:0.0	.	260	Q8TCJ2	STT3B_HUMAN	F	260	.	.	V	+	1	0	STT3B	31616856	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.187000	0.94912	2.703000	0.92315	0.650000	0.86243	GTC			0.294	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253166.2		NM_178862	Missense_Mutation	T	31641852	G	T	31641852	5	4	143	1	0	0	0	0	0	0	1	0	15357	1275	44	3	796	3	STT3B	3	31641852	Splice_Site	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	21214853	31641852	166380578	7	10526											
PTPN23	25930	mdanderson.org	37	chr3	47446253	47446253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggctcgggccaggaggccGctgtccctgtcacctggtga	4	8	16	13	2	1	1	1	1	0	0	3	2	2	2	4	5	0	2	4	5	0	0			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr3:47446253G>A	ENST00000265562.4	+	3	348	c.271G>A	c.(271-273)Gct>Act	p.A91T	PTPN23_ENST00000431726.1_Intron	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	91	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGAGGCCGCTGTCCCTGT	0.657																																					p.A91T													PTPN23,NS,carcinoma,0,1	PTPN23	0	1	0			c.G271A												28	29	29					3																	47446253		2203	4300	6503	SO:0001583	missense	25930	exon3			GAGGCCGCTGTCC	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.271G>A	3.37:g.47446253G>A	ENSP00000265562:p.Ala91Thr		81	0	0		64	0.08	5	NM_015466	9	0	0	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820887	0.71028	.	.	ENSG00000076201	ENST00000456221;ENST00000456408;ENST00000265562	T;T	0.16897	2.31;2.31	5.95	5.06	0.68205	BRO1 domain (3);	0.178984	0.48286	D	0.000196	T	0.20780	0.0500	L	0.39397	1.21	0.53688	D	0.999974	D	0.60575	0.988	P	0.48770	0.589	T	0.00986	-1.1490	10	0.42905	T	0.14	-14.6282	13.1175	0.59307	0.0:0.0:0.709:0.291	.	91	Q9H3S7	PTN23_HUMAN	T	66;66;91	ENSP00000396328:A66T;ENSP00000265562:A91T	ENSP00000265562:A91T	A	+	1	0	PTPN23	47421257	1.000000	0.71417	0.470000	0.27216	0.804000	0.45430	4.680000	0.61656	1.483000	0.48342	0.655000	0.94253	GCT			0.657	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257492.2		NM_015466		A	47446253	G	A	47446253	3	1	143	1	0	0	0	0	1	0	0	0	12811	1087	38	1	281	1	PTPN23	3	47446253	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	15804401	47446253	150576177	8	10527											
CCDC96	257236	broad.mit.edu;mdanderson.org	37	chr4	7044591	7044591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggccttgatcttggaCggccgcgcggccaggctttc	4	9	15	13	4	1	1	0	1	1	0	2	3	1	2	3	5	1	2	3	5	0	3	rs372279731		TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr4:7044591C>T	ENST00000310085.4	-	1	137	c.75G>A	c.(73-75)ccG>ccA	p.P25P	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	25										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TGATCTTGGACGGCCGCGCGG	0.706																																					p.P25P													.	CCDC96	34		0			c.G75A							C		0,4328		0,0,2164	11	13	12		75	3.5	0	4		12	2,8550		0,2,4274	no	coding-synonymous	CCDC96	NM_153376.2		0,2,6438	TT,TC,CC		0.0234,0.0,0.0155		25/556	7044591	2,12878	2164	4276	6440	SO:0001819	synonymous_variant	257236	exon1			CTTGGACGGCCGC	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.75G>A	4.37:g.7044591C>T			19	0	0		27	0.11	3	NM_153376	1	0	0	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																					0.706	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246838.1		NM_153376		T	7044591	C	T	7044591	2	4	143	1	0	0	0	0	0	0	0	1	2876	523	19	1		1	CCDC96	4	7044591	Silent	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10		7044591	184109685	9	10528											
KIT	3815	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	55599320	55599320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattttggtctagccagaGacatcaagaatgattctaat	13	13	9	6	0	3	4	1	2	2	2	3	5	3	4	1	1	1	0	1	1	4	5	rs121913506		TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr4:55599320G>T	ENST00000288135.5	+	17	2543	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.D816Y			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,colon,carcinoma,0,932	KIT	7396	932	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	c.G2446T												144	146	145					4																	55599320		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GCCAGAGACATCA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>T	4.37:g.55599320G>T	ENSP00000288135:p.Asp816Tyr		54	0	0		82	0.1	8	NM_000222	26	0.31	8	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976091	0.92982	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.62	5.62	0.85841	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	0.000011	D	0.87869	0.6286	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.65684	0.937;0.919	D	0.88642	0.3176	10	0.87932	D	0	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	Y	816;812	ENSP00000288135:D816Y;ENSP00000390987:D812Y	ENSP00000288135:D816Y	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				T	55599320	G	T	55599320	3	4	143	1	0	0	0	0	1	0	0	0	8344	942	33	3	2512	3	KIT	4	55599320	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	48554729	55599320	135554956	10	10529											
ADH1B	125	hgsc.bcm.edu;mdanderson.org	37	chr4	100232749	100232749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattgagaggttctgggaaGcaggaggtacccctacgatg	10	10	14	7	1	1	1	0	1	1	1	1	5	1	3	2	4	3	3	2	4	4	5			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr4:100232749G>T	ENST00000305046.8	-	7	960	c.893C>A	c.(892-894)gCt>gAt	p.A298D	ADH1B_ENST00000394887.3_Missense_Mutation_p.A258D			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	298					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)	GTTCTGGGAAGCAGGAGGTAC	0.488																																					p.A298D													ADH1B,NS,carcinoma,-1,1	ADH1B	-1	1	0			c.C893A												223	211	215					4																	100232749		2203	4300	6503	SO:0001583	missense	125	exon7			TGGGAAGCAGGAG	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.893C>A	4.37:g.100232749G>T	ENSP00000306606:p.Ala298Asp		114	0	0		113	0.04	5	NM_000668	3	0	0	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054895	0.19907	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.28255	1.62;1.62	3.66	-2.55	0.06288	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	1.925610	0.02588	N	0.099593	T	0.29749	0.0743	L	0.49699	1.58	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.34601	-0.9822	10	0.54805	T	0.06	0.4754	8.8493	0.35190	0.0:0.2936:0.5593:0.1471	.	285;258;298	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	D	298;258;285	ENSP00000306606:A298D;ENSP00000378351:A258D	ENSP00000306606:A298D	A	-	2	0	ADH1B	100451772	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.114000	0.10757	-0.919000	0.03803	-0.364000	0.07487	GCT			0.488	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364853.1		NM_000668		T	100232749	G	T	100232749	3	4	143	1	0	0	0	0	1	0	0	0	308	971	34	2	246	2	ADH1B	4	100232749	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	44633429	100232749	90921527	11	10530											
RXFP1	59350	mdanderson.org	37	chr4	159573048	159573048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagacaaagaaaatctatGgacagcaaaggtcagaaaac	21	5	8	7	0	2	3	1	0	1	3	2	4	2	4	0	2	3	1	0	2	8	2			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr4:159573048G>T	ENST00000307765.5	+	18	2366	c.2115G>T	c.(2113-2115)atG>atT	p.M705I	RXFP1_ENST00000470033.1_Missense_Mutation_p.M672I|RXFP1_ENST00000460056.2_Missense_Mutation_p.M624I|RXFP1_ENST00000448688.2_Missense_Mutation_p.M600I|RXFP1_ENST00000343542.5_Missense_Mutation_p.M657I	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	705					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)		GAAAATCTATGGACAGCAAAG	0.408																																					p.M732I													.	.			0			c.G2196T												116	108	110					4																	159573048		1894	4107	6001	SO:0001583	missense	59350	exon18			ATCTATGGACAGC	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.2115G>T	4.37:g.159573048G>T	ENSP00000303248:p.Met705Ile		62	0	0		54	0.06	3	NM_001253727	0		0	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.691603	0.00731	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.75	-4.09	0.03951	.	0.669254	0.16076	N	0.230760	T	0.05823	0.0152	N	0.00308	-1.67	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.36261	-0.9755	10	0.15066	T	0.55	.	1.0079	0.01491	0.1703:0.2196:0.2741:0.336	.	716;732;600;657;672;624;575;705	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	I	624;705;600;657;672;575	ENSP00000423306:M624I;ENSP00000303248:M705I;ENSP00000414885:M600I;ENSP00000345889:M657I;ENSP00000420712:M672I	ENSP00000303248:M705I	M	+	3	0	RXFP1	159792498	0.001000	0.12720	0.078000	0.20375	0.303000	0.27691	-0.030000	0.12308	-0.424000	0.07382	-1.193000	0.01689	ATG			0.408	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314865.1		NM_021634		T	159573048	G	T	159573048	3	4	143	1	0	0	0	0	1	0	0	0	13782	1348	47	3	2185	3	RXFP1	4	159573048	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	59340299	159573048	31581228	12	10531											
TBP	6908	hgsc.bcm.edu	37	chr6	170871004	170871004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcaacaaaggcagcagcaGcaacaacaacagcagcagca	19	0	10	12	0	0	0	0	0	0	0	0	1	0	0	0	1	11	8	0	1	5	0			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000540980.1_Silent_p.Q40Q|TBP_ENST00000230354.6_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																					p.Q60Q													.	.			0			c.G180A												43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAACAA	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	6.37:g.170871004G>A			54	0	0		67	0.15	10	NM_003194	12	0.08	1	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																					0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000043271.2		NM_003194		A	170871004	G	A	170871004	2	1	143	1	0	0	0	0	0	0	0	1	15667	962	34	2		2	TBP	6	170871004	Silent	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		170871004	244063	13	10532											
GNA12	2768	mdanderson.org	37	chr7	2883564	2883564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcggccgtggatgatgcGcatctgcttgaggaacgtgg	6	9	16	10	5	1	2	0	2	1	0	2	4	1	4	1	4	3	2	1	4	1	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr7:2883564G>T	ENST00000275364.3	-	1	394	c.232C>A	c.(232-234)Cgc>Agc	p.R78S	GNA12_ENST00000544127.1_Missense_Mutation_p.R2S	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	78					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TGGATGATGCGCATCTGCTTG	0.697																																					p.R78S													.	.			0			c.C232A												33	27	29					7																	2883564		2202	4300	6502	SO:0001583	missense	2768	exon1			TGATGCGCATCTG	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.232C>A	7.37:g.2883564G>T	ENSP00000275364:p.Arg78Ser		61	0	0		52	0.06	3	NM_007353	3	0	0	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781846	0.49891	.	.	ENSG00000146535	ENST00000275364;ENST00000544127	D;D	0.89681	-2.55;-2.55	2.81	0.938	0.19500	G protein alpha subunit, helical insertion (1);	0.218384	0.37761	N	0.001952	D	0.94994	0.8380	H	0.95574	3.69	0.80722	D	1	B;D	0.89917	0.075;1.0	B;D	0.85130	0.007;0.997	D	0.93115	0.6520	10	0.87932	D	0	.	8.2714	0.31846	0.2017:0.0:0.7983:0.0	.	78;78	Q5PPR5;Q03113	.;GNA12_HUMAN	S	78;2	ENSP00000275364:R78S;ENSP00000437469:R2S	ENSP00000275364:R78S	R	-	1	0	GNA12	2850090	1.000000	0.71417	0.951000	0.38953	0.795000	0.44927	2.519000	0.45546	0.097000	0.17492	0.558000	0.71614	CGC			0.697	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241608.1		NM_007353		T	2883564	G	T	2883564	3	4	143	1	0	0	0	0	1	0	0	0	6514	1087	38	1	929	1	GNA12	7	2883564	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		2883564	156255099	14	10533											
CHN2	1124	mdanderson.org	37	chr7	29438103	29438103	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctacacgctggctctcagGtgaggcgcatttcattcctt	6	13	10	12	2	2	1	2	1	1	0	4	1	3	1	1	3	2	4	1	3	1	4			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr7:29438103G>T	ENST00000222792.6	+	5	820		c.e5+1		CHN2_ENST00000435288.2_Splice_Site|CHN2_ENST00000546235.1_Splice_Site|CHN2_ENST00000495789.2_Splice_Site|CHN2_ENST00000539406.1_Splice_Site|CHN2_ENST00000539389.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2						positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGGCTCTCAGGTGAGGCGCAT	0.483																																					.	Ovarian(1;44 48 13232 18918 31480)												.	.			0			c.290+1G>T												93	77	83					7																	29438103		2203	4300	6503	SO:0001630	splice_region_variant	1124	exon5			TCTCAGGTGAGGC	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.290+1G>T	7.37:g.29438103G>T			40	0	0		49	0.06	3	NM_004067	1	0	0	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Splice_Site	SNP	ENST00000222792.6	37	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350324	0.61183	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000546235	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1999	0.89834	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHN2	29404628	1.000000	0.71417	0.991000	0.47740	0.593000	0.36681	9.166000	0.94766	2.402000	0.81655	0.467000	0.42956	.			0.483	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000214228.2		NM_004067	Intron	T	29438103	G	T	29438103	5	4	143	1	0	0	0	0	0	0	1	0	3365	1275	44	3	309	3	CHN2	7	29438103	Splice_Site	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	26554539	29438103	129700560	15	10534											
WNK2	65268	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr9	96024344	96024344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgggcccgggatcgcCagcccttgcccaactgtcca	5	6	12	18	3	0	0	0	0	0	0	2	1	1	1	6	3	3	0	6	3	1	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr9:96024344C>T	ENST00000297954.4	+	12	3315	c.3315C>T	c.(3313-3315)gcC>gcT	p.A1105A	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.A717A|WNK2_ENST00000395477.2_Silent_p.A1105A|WNK2_ENST00000427277.2_Silent_p.A717A	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1105					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						CCGGGATCGCCAGCCCTTGCC	0.682																																					p.A1105A													.	WNK2	277		0			c.C3315T												20	18	19					9																	96024344		2195	4286	6481	SO:0001819	synonymous_variant	65268	exon12			GATCGCCAGCCCT	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.3315C>T	9.37:g.96024344C>T			111	0.009009009	1		103	0.07	7	NM_006648	0		0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.171|2.171	-0.389965|-0.389965	0.04932|0.04932	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000411624	.|.	.|.	.|.	5.3|5.3	-4.6|-4.6	0.03390|0.03390	.|.	.|.	.|.	.|.	.|.	T|.	0.47764|.	0.1463|.	.|.	.|.	.|.	0.39890|0.39890	D|D	0.973759|0.973759	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.46205|.	-0.9208|.	4|.	.|.	.|.	.|.	.|.	6.5117|6.5117	0.22226|0.22226	0.1216:0.3341:0.0:0.5443|0.1216:0.3341:0.0:0.5443	.|.	.|.	.|.	.|.	L|X	1101|709	.|.	.|.	P|Q	+|+	2|1	0|0	WNK2|WNK2	95064165|95064165	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.234000|0.234000	0.25298|0.25298	-1.365000|-1.365000	0.02587|0.02587	-0.941000|-0.941000	0.03700|0.03700	0.467000|0.467000	0.42956|0.42956	CCA|CAG			0.682	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000317359.1		NM_006648		T	96024344	C	T	96024344	2	4	143	1	0	0	0	0	0	0	0	1	17402	581	21	3		3	WNK2	9	96024344	Silent	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10		96024344	45189087	16	10535											
FBXW5	54461	mdanderson.org	37	chr9	139835404	139835404	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctctggctggcaagccaGgagaagaaggtgcgaggccg	9	4	17	11	3	1	2	0	0	1	2	1	4	1	2	3	5	2	2	3	5	3	0			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr9:139835404G>T	ENST00000325285.3	-	9	1756	c.1677C>A	c.(1675-1677)tcC>tcA	p.S559S	FBXW5_ENST00000483559.1_5'UTR|RP11-229P13.25_ENST00000569497.1_RNA	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	559					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGCAAGCCAGGAGAAGAAGG	0.677																																					p.S559S													.	.			0			c.C1677A												27	27	27					9																	139835404		2170	4284	6454	SO:0001819	synonymous_variant	54461	exon9			AAGCCAGGAGAAG	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1677C>A	9.37:g.139835404G>T			44	0	0		36	0.08	3	NM_018998	202	0	0	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	CCDS7014.1																																																																																					0.677	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055227.1		NM_018998		T	139835404	G	T	139835404	2	4	143	1	0	0	0	0	0	0	0	1	5781	987	35	3		3	FBXW5	9	139835404	Silent	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	43811060	139835404	1378027	17	10536											
PDLIM1	9124	mdanderson.org	37	chr10	97006973	97006973	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagatggagctgattaccTttttcttcagactccaggat	9	14	9	9	0	2	3	1	1	1	2	3	5	3	5	2	2	3	2	2	2	1	4			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr10:97006973T>C	ENST00000329399.6	-	5	792	c.684A>G	c.(682-684)aaA>aaG	p.K228K	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	228					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTGATTACCTTTTTCTTCAG	0.468											OREG0020387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K228K													.	.			0			c.A684G												145	143	144					10																	97006973		2203	4300	6503	SO:0001630	splice_region_variant	9124	exon5			ATTACCTTTTTCT	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.685+1A>G	10.37:g.97006973T>C			59	0	0	1325	42	0.07	3	NM_020992	172	0	0	B2RBS6|Q5VZH5|Q9BPZ9	Silent	SNP	ENST00000329399.6	37	CCDS7441.1																																																																																					0.468	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049508.1			Silent	C	97006973	T	C	97006973	5	2	143	1	0	0	0	0	0	0	1	0	11696	1623	56	4	317	4	PDLIM1	10	97006973	Splice_Site	SNP	T	TCGA-ZM-AA0D-01A-11D-A435-10		97006973	38527774	18	10537											
C10orf26	118980	mdanderson.org	37	chr10	104503811	104503811	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaggagcaggagggggAtggagaggagaaggctcctg	11	3	22	5	0	0	2	0	0	0	2	1	8	1	6	1	8	2	3	1	8	1	0			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr10:104503811A>G	ENST00000369893.5	+	0	6866				WBP1L_ENST00000448841.1_Start_Codon_SNP_p.M1V	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2						iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		caggagggggatggagaggag	0.667																																					p.M1V													.	.			0			c.A1G												15	22	20					10																	104503811		2024	4144	6168	SO:0001628	intergenic_variant	54838	exon1			AGGGGGATGGAGA	AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"Sideroflexins"	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967		10.37:g.104503811A>G			32	0.03125	1		29	0.14	4	NM_001083913	1	0	0	Q5JSM6	Missense_Mutation	SNP	ENST00000369893.5	37	CCDS7539.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.030772	0.54790	.	.	ENSG00000166272	ENST00000448841	T	0.28895	1.59	4.4	4.4	0.53042	.	.	.	.	.	T	0.47930	0.1472	.	.	.	0.23010	N	0.998439	P	0.43578	0.811	P	0.57846	0.828	T	0.32903	-0.9889	8	0.87932	D	0	-2.4281	10.1756	0.42937	1.0:0.0:0.0:0.0	.	1	Q9NX94-2	.	V	1	ENSP00000414721:M1V	ENSP00000414721:M1V	M	+	1	0	C10orf26	104493801	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.124000	0.57924	1.966000	0.57179	0.379000	0.24179	ATG			0.667	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050096.2		XM_058359		G	104503811	A	G	104503811	1	3	143	0	1	0	0	0	0	0	0	0	1601	333	12	4		4	C10orf26	10	104503811	IGR	SNP	A	TCGA-ZM-AA0D-01A-11D-A435-10	7496838	104503811	31030936	19	10538											
MTCH2	23788	mdanderson.org	37	chr11	47653218	47653218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacataccatggaagggatGtgtgatgagggtagcagcag	14	7	15	5	0	0	2	0	2	0	0	0	4	0	4	1	3	4	3	1	3	4	2			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr11:47653218G>T	ENST00000302503.3	-	6	572	c.415C>A	c.(415-417)Cat>Aat	p.H139N	MTCH2_ENST00000534074.1_5'Flank|MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	139					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGAAGGGATGTGTGATGAGG	0.418																																					p.H139N													.	.			0			c.C415A												165	133	144					11																	47653218		2201	4298	6499	SO:0001583	missense	23788	exon6			AGGGATGTGTGAT	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.415C>A	11.37:g.47653218G>T	ENSP00000303222:p.His139Asn		63	0	0		48	0.06	3	NM_014342	71	0	0	B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698608	0.88830	.	.	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	T;T	0.41065	1.01;1.01	5.71	5.71	0.89125	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	L	0.28504	0.86	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.24297	-1.0164	10	0.02654	T	1	.	18.6391	0.91389	0.0:0.0:1.0:0.0	.	139	Q9Y6C9	MTCH2_HUMAN	N	139;130;118	ENSP00000303222:H139N;ENSP00000432043:H130N	ENSP00000303222:H139N	H	-	1	0	MTCH2	47609794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.028000	0.70889	2.709000	0.92574	0.655000	0.94253	CAT			0.418	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391921.2		NM_014342		T	47653218	G	T	47653218	3	4	143	1	0	0	0	0	1	0	0	0	9930	1377	48	3	528	3	MTCH2	11	47653218	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		47653218	87353298	20	10539											
OR5D18	219438	mdanderson.org	37	chr11	55587808	55587808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgttcagtcagtgggCgccgcaaagccttctccacc	8	8	11	14	3	3	1	2	0	1	1	4	1	3	1	4	1	2	2	4	1	1	2	rs149397041		TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr11:55587808C>T	ENST00000333976.4	+	1	723	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	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)|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)				AGTCAGTGGGCGCCGCAAAGC	0.493																																					p.R235C													OR5D18,NS,adenocarcinoma,0,7	OR5D18	0	7	0			c.C703T												141	119	126					11																	55587808		2200	4296	6496	SO:0001583	missense	219438	exon1			AGTGGGCGCCGCA	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.703C>T	11.37:g.55587808C>T	ENSP00000335025:p.Arg235Cys		118	0	0		115	0.04	5	NM_001001952	0		0	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	7.344	0.621417	0.14193	.	.	ENSG00000186119	ENST00000333976	T	0.00337	8.05	4.9	1.31	0.21738	GPCR, rhodopsin-like superfamily (1);	0.599517	0.14038	N	0.345621	T	0.00412	0.0013	M	0.91561	3.22	0.09310	N	1	B	0.18741	0.03	B	0.20384	0.029	T	0.37361	-0.9709	10	0.72032	D	0.01	-0.2535	6.401	0.21638	0.5194:0.3857:0.0:0.0948	.	235	Q8NGL1	OR5DI_HUMAN	C	235	ENSP00000335025:R235C	ENSP00000335025:R235C	R	+	1	0	OR5D18	55344384	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-1.358000	0.02604	0.579000	0.29504	0.573000	0.79308	CGC			0.493	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391515.1		NM_001001952		T	55587808	C	T	55587808	3	4	143	1	0	0	0	0	1	0	0	0	11174	768	27	1	705	1	OR5D18	11	55587808	Missense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10	7934590	55587808	79418708	21	10540											
SORL1	6653	broad.mit.edu;mdanderson.org	37	chr11	121466453	121466453	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgacggccaccaagattgCcaggatggccgggacgaggc	9	5	16	11	3	0	2	0	1	0	1	0	5	0	4	4	5	1	0	4	5	1	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr11:121466453C>A	ENST00000260197.7	+	32	4620	c.4491C>A	c.(4489-4491)tgC>tgA	p.C1497*	SORL1_ENST00000525532.1_Nonsense_Mutation_p.C441*|SORL1_ENST00000532694.1_Nonsense_Mutation_p.C343*|SORL1_ENST00000534286.1_Nonsense_Mutation_p.C407*|SORL1_ENST00000527934.1_Nonsense_Mutation_p.C112*	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1497	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		ACCAAGATTGCCAGGATGGCC	0.577																																					p.C1497X													.	SORL1	218		0			c.C4491A												67	54	58					11																	121466453		2203	4299	6502	SO:0001587	stop_gained	6653	exon32			AGATTGCCAGGAT	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.4491C>A	11.37:g.121466453C>A	ENSP00000260197:p.Cys1497*		46	0	0		42	0.12	5	NM_003105	0		0	B2RNX7|Q92856	Nonsense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	38	6.907295	0.97924	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	.	.	.	5.38	2.48	0.30137	.	0.056442	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5559	0.45117	0.0:0.7846:0.0:0.2154	.	.	.	.	X	1497;441;343;407;112	.	ENSP00000260197:C1497X	C	+	3	2	SORL1	120971663	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	1.064000	0.30579	0.650000	0.30769	-0.136000	0.14681	TGC			0.577	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387626.2		NM_003105		A	121466453	C	A	121466453	4	1	143	1	0	0	0	0	0	1	0	0	14957	747	26	2	4617	2	SORL1	11	121466453	Nonsense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10	65878645	121466453	13540063	22	10541											
USP5	8078	mdanderson.org	37	chr12	6970675	6970675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatggcactgccagaactgGttcgggcccaggtgcccttc	7	8	13	13	1	0	2	0	0	0	2	2	2	0	2	3	4	3	2	3	4	1	2	rs199632125		TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr12:6970675G>T	ENST00000229268.8	+	13	1619	c.1567G>T	c.(1567-1569)Gtt>Ttt	p.V523F	USP5_ENST00000389231.5_Missense_Mutation_p.V523F|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	523	USP.				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						GCCAGAACTGGTTCGGGCCCA	0.612													g|||	1	0.000199681	0	0.0014	5008	,	,		-128	0		0	False		,,,				2504	0				p.V523F													.	.			0			c.G1567T												70	69	70					12																	6970675		2203	4300	6503	SO:0001583	missense	8078	exon13			GAACTGGTTCGGG	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.1567G>T	12.37:g.6970675G>T	ENSP00000229268:p.Val523Phe		33	0	0		46	0.07	3	NM_003481	27	0	0	D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	CCDS41743.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	26.5	4.744335	0.89663	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.26223	1.76;1.75	5.18	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.120057	0.56097	D	0.000028	T	0.53546	0.1803	M	0.76002	2.32	0.58432	D	0.999996	D;D	0.89917	0.996;1.0	D;D	0.78314	0.982;0.991	T	0.56135	-0.8029	10	0.72032	D	0.01	.	18.885	0.92372	0.0:0.0:1.0:0.0	.	523;523	P45974;P45974-2	UBP5_HUMAN;.	F	523	ENSP00000229268:V523F;ENSP00000373883:V523F	ENSP00000229268:V523F	V	+	1	0	USP5	6840936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.018000	0.76406	2.696000	0.92011	0.556000	0.70494	GTT	0		0.612	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402982.1				T	6970675	G	T	6970675	3	4	143	1	0	0	0	0	1	0	0	0	17105	1261	44	3	1617	3	USP5	12	6970675	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		6970675	126881220	23	10542											
MTIF3	219402	ucsc.edu	37	chr13	28014392	28014392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tattcttttttgtcttttttCcttcattctgggtgtcttca	3	25	5	8	0	6	0	2	0	4	0	7	0	7	0	1	1	0	0	1	1	1	11			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr13:28014392C>T	ENST00000381116.1	-	5	428	c.194G>A	c.(193-195)gGa>gAa	p.G65E	MTIF3_ENST00000431572.2_Missense_Mutation_p.G65E|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Missense_Mutation_p.G65E|MTIF3_ENST00000381120.3_Missense_Mutation_p.G65E			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	65					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGTCTTTTTTCCTTCATTCTG	0.403																																					p.G65E													.	MTIF3	21		0			c.G194A												106	109	108					13																	28014392		2203	4300	6503	SO:0001583	missense	219402	exon4			TTTTTTCCTTCAT	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.194G>A	13.37:g.28014392C>T	ENSP00000370508:p.Gly65Glu		150	0	0		123	0.02	2	NM_001166263	133	0.11	14	Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	C	3.884	-0.025346	0.07589	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.82	-0.823	0.10815	.	0.504141	0.21766	N	0.069438	T	0.15912	0.0383	L	0.36672	1.1	0.09310	N	1	B	0.23806	0.091	B	0.19148	0.024	T	0.09357	-1.0678	10	0.32370	T	0.25	-6.0618	0.9703	0.01414	0.2413:0.3473:0.1435:0.2679	.	65	Q9H2K0	IF3M_HUMAN	E	65	ENSP00000400084:G65E;ENSP00000384659:G65E;ENSP00000370508:G65E;ENSP00000370512:G65E	ENSP00000370508:G65E	G	-	2	0	MTIF3	26912392	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.094000	0.01351	0.048000	0.15891	0.655000	0.94253	GGA			0.403	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044300.1	rescued with RNA-seq	NM_152912		T	28014392	C	T	28014392	3	4	143	1	0	0	0	0	1	0	0	0	9951	855	30	3	654	3	MTIF3	13	28014392	Missense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10		28014392	87155486	24	10543											
IRS2	8660	mdanderson.org	37	chr13	110434970	110434970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggaactgtggcggcggCggcccccctgcgggtctgcg	2	7	17	15	6	2	0	0	0	2	0	3	1	2	1	3	6	3	0	3	6	1	0			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr13:110434970C>T	ENST00000375856.3	-	1	3945	c.3431G>A	c.(3430-3432)cGc>cAc	p.R1144H		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1144					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)			GTGGCGGCGGCGGCCCCCCTG	0.721																																					p.R1144H	Melanoma(100;613 2409 40847)												.	.			0			c.G3431A												3	4	4					13																	110434970		1716	3511	5227	SO:0001583	missense	8660	exon1			CGGCGGCGGCCCC	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.3431G>A	13.37:g.110434970C>T	ENSP00000365016:p.Arg1144His		53	0	0		33	0.09	3	NM_003749	0		0	Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885518	0.51908	.	.	ENSG00000185950	ENST00000375856	T	0.32272	1.46	3.92	3.92	0.45320	.	0.000000	0.85682	U	0.000000	T	0.52964	0.1767	M	0.70595	2.14	0.40397	D	0.979605	D	0.89917	1.0	D	0.80764	0.994	T	0.60005	-0.7347	10	0.72032	D	0.01	-18.8912	13.5507	0.61730	0.0:1.0:0.0:0.0	.	1144	Q9Y4H2	IRS2_HUMAN	H	1144	ENSP00000365016:R1144H	ENSP00000365016:R1144H	R	-	2	0	IRS2	109232971	1.000000	0.71417	0.998000	0.56505	0.240000	0.25518	5.852000	0.69488	2.039000	0.60335	0.644000	0.83932	CGC			0.721	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045755.1		NM_003749		T	110434970	C	T	110434970	3	4	143	1	0	0	0	0	1	0	0	0	7856	768	27	1	593	1	IRS2	13	110434970	Missense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10	82420578	110434970	4734908	25	10544											
NID2	22795	mdanderson.org	37	chr14	52535528	52535528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagaagtgcaggggattcGccagcttcaccacggctgag	9	7	14	11	3	1	2	1	1	0	1	2	3	1	3	2	3	2	4	2	3	2	3			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr14:52535528G>T	ENST00000216286.5	-	1	184	c.185C>A	c.(184-186)gCg>gAg	p.A62E	NID2_ENST00000541773.1_Missense_Mutation_p.A9E	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	62					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CAGGGGATTCGCCAGCTTCAC	0.632																																					p.A62E													.	.			0			c.C185A												104	89	94					14																	52535528		2203	4300	6503	SO:0001583	missense	22795	exon1			GGATTCGCCAGCT	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.185C>A	14.37:g.52535528G>T	ENSP00000216286:p.Ala62Glu		48	0	0		46	0.07	3	NM_007361	0		0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365830	0.24684	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.23754	1.89;1.89	4.81	-1.3	0.09259	.	0.902895	0.09679	N	0.770020	T	0.14270	0.0345	L	0.33293	1	0.09310	N	1	P;B;B	0.41748	0.761;0.008;0.002	B;B;B	0.38655	0.278;0.003;0.002	T	0.12426	-1.0548	10	0.05525	T	0.97	.	8.4514	0.32873	0.0:0.348:0.3948:0.2571	.	9;64;62	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	E	62;62;9;64	ENSP00000216286:A62E;ENSP00000443730:A9E	ENSP00000216286:A62E	A	-	2	0	NID2	51605278	0.000000	0.05858	0.142000	0.22268	0.525000	0.34531	0.011000	0.13264	0.065000	0.16485	0.455000	0.32223	GCG			0.632	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276888.1				T	52535528	G	T	52535528	3	4	143	1	0	0	0	0	1	0	0	0	10432	1087	38	1	4030	1	NID2	14	52535528	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		52535528	54814012	26	10545											
SYNE2	23224	mdanderson.org	37	chr14	64626069	64626069	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagcagtgaagggagttggGagaaactccaggaggttatc	13	7	16	5	0	0	3	0	1	0	2	2	6	1	5	1	4	2	3	1	4	3	2			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr14:64626069G>T	ENST00000344113.4	+	87	16215	c.16003G>T	c.(16003-16005)Gag>Tag	p.E5335*	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Nonsense_Mutation_p.E1720*|SYNE2_ENST00000357395.3_Nonsense_Mutation_p.E1720*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E5252*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.E1969*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E5335*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5335					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)		AGGGAGTTGGGAGAAACTCCA	0.428																																					p.E5335X													.	.			0			c.G16003T												82	85	84					14																	64626069		2203	4300	6503	SO:0001587	stop_gained	23224	exon87			AGTTGGGAGAAAC	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.16003G>T	14.37:g.64626069G>T	ENSP00000341781:p.Glu5335*		46	0	0		45	0.07	3	NM_015180	9	0	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	34	5.407754	0.96051	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	.	.	.	5.98	-0.0102	0.13998	.	0.831368	0.10264	N	0.695599	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.3859	0.32499	0.1264:0.1239:0.7497:0.0	.	.	.	.	X	5335;1720;5335;5252;5258;1969;1720	.	ENSP00000261678:E5258X	E	+	1	0	SYNE2	63695822	1.000000	0.71417	0.996000	0.52242	0.843000	0.47879	1.064000	0.30579	0.060000	0.16281	0.655000	0.94253	GAG			0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276994.2		NM_182914		T	64626069	G	T	64626069	4	4	143	1	0	0	0	0	0	1	0	0	15469	1175	41	3	16345	3	SYNE2	14	64626069	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	12090541	64626069	42723471	27	10546											
MYLK3	91807	mdanderson.org	37	chr16	46762966	46762966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagggtgcagctgtgcttgCtctcgaaggcgtcatagagc	8	9	14	10	2	2	1	1	0	1	1	3	2	2	1	0	2	5	4	0	2	3	2			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr16:46762966C>T	ENST00000394809.4	-	7	1857	c.1742G>A	c.(1741-1743)aGc>aAc	p.S581N	MYLK3_ENST00000536476.1_Missense_Mutation_p.S240N	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				GCTGTGCTTGCTCTCGAAGGC	0.582																																					p.S581N													.	.			0			c.G1742A												241	199	213					16																	46762966		2203	4300	6503	SO:0001583	missense	91807	exon7			TGCTTGCTCTCGA	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.1742G>A	16.37:g.46762966C>T	ENSP00000378288:p.Ser581Asn		48	0	0		43	0.07	3	NM_182493	0		0	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161360	0.57368	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.64991	-0.13;-0.13	5.39	5.39	0.77823	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	0.42682	D	0.000674	T	0.49830	0.1580	N	0.25094	0.71	0.39796	D	0.972507	B;B	0.21452	0.056;0.047	B;B	0.20767	0.017;0.031	T	0.52079	-0.8623	10	0.66056	D	0.02	.	14.2343	0.65916	0.0:0.8496:0.1504:0.0	.	581;581	B5BUL9;Q32MK0	.;MYLK3_HUMAN	N	581;240	ENSP00000378288:S581N;ENSP00000439297:S240N	ENSP00000378288:S581N	S	-	2	0	MYLK3	45320467	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.883000	0.48554	2.534000	0.85438	0.491000	0.48974	AGC			0.582	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255743.2		NM_182493		T	46762966	C	T	46762966	3	4	143	1	0	0	0	0	1	0	0	0	10074	797	28	2	745	2	MYLK3	16	46762966	Missense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10		46762966	43591787	28	10547											
CES8	283848	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	chr16	67036993	67036993	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtcacccctagcctcGggtctcttccatcgggccat	6	11	9	15	2	2	1	1	1	1	0	6	1	3	1	5	2	1	0	5	2	1	2	rs181709052		TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr16:67036993G>T	ENST00000326686.5	+	6	711	c.711G>T	c.(709-711)tcG>tcT	p.S237S	CES4A_ENST00000540947.2_Silent_p.S237S|CES4A_ENST00000338718.4_Silent_p.S260S|CES4A_ENST00000535696.1_Silent_p.S143S|CES4A_ENST00000540579.1_Silent_p.S139S|CES4A_ENST00000398354.1_Silent_p.S237S|CES4A_ENST00000541479.1_Silent_p.S260S			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	237						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCCTAGCCTCGGGTCTCTTCC	0.542																																					p.S237S													.	.			0			c.G711T												112	110	111					16																	67036993		1973	4153	6126	SO:0001819	synonymous_variant	283848	exon6			AGCCTCGGGTCTC	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.711G>T	16.37:g.67036993G>T			152	0	0		82	0.05	4	NM_173815	2	0	0	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37																																																																																						0.542	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_173815		T	67036993	G	T	67036993	2	4	143	1	0	0	0	0	0	0	0	1	3275	1103	39	1		1	CES8	16	67036993	Silent	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	20274027	67036993	23317760	29	10548											
RASD1	51655	bcgsc.ca	37	chr17	17398600	17398600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgccgccgctgccggcccGcagcagcttcttgttccgca	3	7	12	19	6	1	0	0	0	1	0	2	0	2	0	6	1	3	6	6	1	0	3			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr17:17398600G>A	ENST00000225688.3	-	2	896	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	229					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						ctgccgGCCCGCAGCAGCTTC	0.687																																					p.R229W													.	RASD1	8		0			c.C685T												5	6	5					17																	17398600		1933	3789	5722	SO:0001583	missense	51655	exon2			CGGCCCGCAGCAG	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"ras-related protein", "dexamethasone-induced ras-related protein 1", "activator of G protein signaling"	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.685C>T	17.37:g.17398600G>A	ENSP00000225688:p.Arg229Trp		73	0	0		45	0.09	4	NM_016084	42	0	0	B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013815	0.75161	.	.	ENSG00000108551	ENST00000225688	T	0.73575	-0.76	5.0	3.97	0.46021	.	0.138702	0.33610	N	0.004735	T	0.65144	0.2663	N	0.22421	0.69	0.80722	D	1	D	0.56287	0.975	P	0.48571	0.582	T	0.68880	-0.5292	10	0.72032	D	0.01	.	9.431	0.38610	0.0:0.0:0.671:0.329	.	229	Q9Y272	RASD1_HUMAN	W	229	ENSP00000225688:R229W	ENSP00000225688:R229W	R	-	1	2	RASD1	17339325	0.998000	0.40836	0.998000	0.56505	0.983000	0.72400	1.669000	0.37492	2.299000	0.77371	0.561000	0.74099	CGG			0.687	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131668.1		NM_016084		A	17398600	G	A	17398600	3	1	143	1	0	0	0	0	1	0	0	0	13089	1086	38	1	164	1	RASD1	17	17398600	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		17398600	63796610	30	10549											
SYNRG	11276	mdanderson.org	37	chr17	35889886	35889886	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcctggtctctgtgataccTtttcttctaagagctcatgg	6	15	9	11	1	4	2	1	1	3	1	5	2	4	2	2	2	2	1	2	2	2	5			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr17:35889886T>C	ENST00000339208.6	-	19	3807				SYNRG_ENST00000346661.4_Intron|SYNRG_ENST00000345615.4_Intron|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000394378.2_Splice_Site_p.K1167R	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma						endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGTGATACCTTTTCTTCTAA	0.483																																					p.K1167R													.	.			0			c.A3500G												110	93	98					17																	35889886		692	1591	2283	SO:0001627	intron_variant	11276	exon19			GATACCTTTTCTT	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3666+6194A>G	17.37:g.35889886T>C			44	0	0		44	0.07	3	NM_198882	9	0	0	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	7.939	0.742338	0.15642	.	.	ENSG00000006114	ENST00000394378	T	0.44083	0.93	2.52	2.52	0.30459	.	.	.	.	.	T	0.39226	0.1070	N	0.08118	0	0.25794	N	0.984583	P	0.49696	0.927	D	0.67725	0.953	T	0.14811	-1.0459	9	0.62326	D	0.03	.	7.021	0.24914	0.0:0.0:0.0:1.0	.	1167	A8MWU4	.	R	1167	ENSP00000377903:K1167R	ENSP00000377903:K1167R	K	-	2	0	SYNRG	32963999	0.026000	0.19158	0.081000	0.20488	0.236000	0.25371	0.351000	0.20096	1.421000	0.47157	0.374000	0.22700	AAG			0.483	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256811.2		NM_007247		C	35889886	T	C	35889886	1	2	143	0	1	0	0	0	0	0	0	0	15483	1623	56	4		4	SYNRG	17	35889886	Intron	SNP	T	TCGA-ZM-AA0D-01A-11D-A435-10	18491286	35889886	45305324	31	10550											
KIAA1267	284058	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	44248976	44248976	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagtgagagcccgttttccCccattgagggaagtggaatt	10	10	13	8	1	0	2	0	2	0	1	1	6	1	4	3	2	1	1	3	2	3	4			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr17:44248976C>T	ENST00000262419.6	-	2	1004	c.534G>A	c.(532-534)ggG>ggA	p.G178G	KANSL1_ENST00000432791.1_Silent_p.G178G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.G178G|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Silent_p.G178G|KANSL1_ENST00000575318.1_Silent_p.G178G	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	178					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)											CCCGTTTTCCCCCATTGAGGG	0.478																																					p.G178G													.	.			0			c.G534A												105	139	128					17																	44248976		2203	4300	6503	SO:0001819	synonymous_variant	284058	exon2			TTTTCCCCCATTG	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.534G>A	17.37:g.44248976C>T			99	0	0		91	0.05	5	NM_001193466	10	0.2	2	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	CCDS11503.1																																																																																					0.478	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440274.1		NM_015443		T	44248976	C	T	44248976	2	4	143	1	0	0	0	0	0	0	0	1	8234	610	22	3		3	KIAA1267	17	44248976	Silent	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10	8359090	44248976	36946234	32	10551											
TGIF1	7050	mdanderson.org	37	chr18	3457889	3457889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcttctagtggatgttgCactcaaacgggctgcagaga	10	10	12	9	1	3	1	2	0	1	1	3	3	3	2	0	2	4	5	0	2	2	3			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr18:3457889C>T	ENST00000330513.5	+	3	1460	c.1157C>T	c.(1156-1158)gCa>gTa	p.A386V	TGIF1_ENST00000407501.2_Missense_Mutation_p.A257V|TGIF1_ENST00000551541.1_Missense_Mutation_p.A237V|TGIF1_ENST00000401449.1_Missense_Mutation_p.A237V|TGIF1_ENST00000405385.3_Missense_Mutation_p.A237V|TGIF1_ENST00000472042.1_Missense_Mutation_p.A237V|TGIF1_ENST00000548489.2_Missense_Mutation_p.A271V|TGIF1_ENST00000343820.5_Missense_Mutation_p.A257V|TGIF1_ENST00000400167.2_Missense_Mutation_p.A237V|TGIF1_ENST00000345133.5_Missense_Mutation_p.A237V	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	386					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTGGATGTTGCACTCAAACGG	0.478																																					p.A386V													.	.			0			c.C1157T												64	64	64					18																	3457889		2203	4300	6503	SO:0001583	missense	7050	exon3			ATGTTGCACTCAA	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.1157C>T	18.37:g.3457889C>T	ENSP00000327959:p.Ala386Val		16	0	0		16	0.13	2	NM_170695	190	0	0	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311428	0.81358	.	.	ENSG00000177426	ENST00000401449;ENST00000548489;ENST00000405385;ENST00000343820;ENST00000407501;ENST00000551541;ENST00000345133;ENST00000330513;ENST00000549546;ENST00000400167;ENST00000472042	T;T;T;T;T;T;T;T;T;T;T	0.73897	-0.53;-0.55;-0.53;-0.61;-0.61;-0.53;-0.53;-0.79;-0.43;-0.53;-0.53	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.84082	2.675	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	0.88188	0.2875	9	.	.	.	-26.2341	18.869	0.92305	0.0:1.0:0.0:0.0	.	386;257;271	Q15583;Q15583-2;F8VZB6	TGIF1_HUMAN;.;.	V	237;271;237;257;257;237;237;386;237;237;237	ENSP00000385206:A237V;ENSP00000447747:A271V;ENSP00000384970:A237V;ENSP00000339631:A257V;ENSP00000384133:A257V;ENSP00000450025:A237V;ENSP00000343969:A237V;ENSP00000327959:A386V;ENSP00000449580:A237V;ENSP00000383031:A237V;ENSP00000449501:A237V	.	A	+	2	0	TGIF1	3447889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.474000	0.83562	0.563000	0.77884	GCA			0.478	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000254368.4		NM_170695		T	3457889	C	T	3457889	3	4	143	1	0	0	0	0	1	0	0	0	15848	710	25	2	1249	2	TGIF1	18	3457889	Missense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10		3457889	74619359	33	10552											
EPB41L3	23136	mdanderson.org	37	chr18	5445201	5445201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctctagcaagttcaagtGttcacacactttatcaaaca	13	14	4	10	0	4	0	3	0	1	0	5	0	4	0	0	0	2	3	0	0	5	6			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr18:5445201G>T	ENST00000341928.2	-	4	764	c.424C>A	c.(424-426)Cac>Aac	p.H142N	EPB41L3_ENST00000400111.3_Missense_Mutation_p.H142N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H142N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H142N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H142N|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	142	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						AAGTTCAAGTGTTCACACACT	0.393																																					p.H142N													.	.			0			c.C424A												191	151	164					18																	5445201		2203	4300	6503	SO:0001583	missense	23136	exon4			TCAAGTGTTCACA	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.424C>A	18.37:g.5445201G>T	ENSP00000343158:p.His142Asn		57	0.0175438596	1		38	0.08	3	NM_012307	0		0	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490986	0.96339	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.82	5.82	0.92795	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.90065	0.6897	M	0.87456	2.885	0.80722	D	1	D;P;D;D;B	0.71674	0.981;0.662;0.998;0.998;0.341	D;B;D;D;P	0.83275	0.978;0.356;0.996;0.992;0.483	D	0.90925	0.4786	10	0.72032	D	0.01	.	18.8665	0.92294	0.0:0.0:1.0:0.0	.	142;142;33;142;142	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	N	142;33;142;33;142;142;223	ENSP00000343158:H142N;ENSP00000441174:H142N;ENSP00000341138:H142N;ENSP00000382981:H142N	ENSP00000343158:H142N	H	-	1	0	EPB41L3	5435201	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.527000	0.81931	2.753000	0.94483	0.467000	0.42956	CAC			0.393	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254424.1		NM_012307		T	5445201	G	T	5445201	3	4	143	1	0	0	0	0	1	0	0	0	5161	1377	48	3	2915	3	EPB41L3	18	5445201	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	1987312	5445201	72632047	34	10553											
TTC39C	125488	mdanderson.org	37	chr18	21698092	21698092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttctttcataggttGgtgcagcatgatagagctca	12	14	9	6	0	3	2	2	1	1	1	3	2	3	2	0	2	3	4	0	2	4	6			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr18:21698092G>T	ENST00000317571.3	+	8	1318	c.1082G>T	c.(1081-1083)tGg>tTg	p.W361L	RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000540918.2_Missense_Mutation_p.W54L|TTC39C_ENST00000304621.6_Missense_Mutation_p.W300L	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	361										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTCATAGGTTGGTGCAGCATG	0.418																																					p.W361L													.	.			0			c.G1082T												123	113	116					18																	21698092		2203	4300	6503	SO:0001583	missense	125488	exon8			TAGGTTGGTGCAG	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.1082G>T	18.37:g.21698092G>T	ENSP00000323645:p.Trp361Leu		52	0	0		42	0.07	3	NM_001135993	6	0	0	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892826	0.91889	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.40476	1.03;1.03;1.03	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.69185	2.1	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.66444	-0.5922	10	0.87932	D	0	-16.9013	18.0387	0.89313	0.0:0.0:1.0:0.0	.	361	Q8N584	TT39C_HUMAN	L	300;361;54	ENSP00000306598:W300L;ENSP00000323645:W361L;ENSP00000443016:W54L	ENSP00000306598:W300L	W	+	2	0	TTC39C	19952090	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.227000	0.95236	2.544000	0.85801	0.655000	0.94253	TGG			0.418	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446107.1		NM_153211		T	21698092	G	T	21698092	3	4	143	1	0	0	0	0	1	0	0	0	16733	1357	47	3	1112	3	TTC39C	18	21698092	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	16252891	21698092	56379156	35	10554											
SLC25A23	79085	mdanderson.org	37	chr19	6444206	6444206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagggccagcgggtaactgGctatctggccgcaggtgctg	6	7	16	12	2	1	0	0	0	1	0	1	0	1	0	3	5	3	4	3	5	2	2			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr19:6444206G>T	ENST00000301454.4	-	9	1284	c.1178C>A	c.(1177-1179)gCc>gAc	p.A393D	SLC25A23_ENST00000334510.5_Missense_Mutation_p.A393D|SLC25A23_ENST00000414491.2_Missense_Mutation_p.A154D|SLC25A23_ENST00000601760.1_5'UTR	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	393					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CGGGTAACTGGCTATCTGGCC	0.657																																					p.A393D													.	.			0			c.C1178A												31	28	29					19																	6444206		2203	4300	6503	SO:0001583	missense	79085	exon9			TAACTGGCTATCT	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1178C>A	19.37:g.6444206G>T	ENSP00000301454:p.Ala393Asp		54	0	0		32	0.09	3	NM_024103	15	0	0	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205636	0.95033	.	.	ENSG00000125648	ENST00000264088;ENST00000422102;ENST00000301454;ENST00000414491;ENST00000334510	T;T;T;T	0.80480	-1.29;-1.38;-1.38;-1.29	5.04	5.04	0.67666	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	H	0.98738	4.315	0.80722	D	1	P;D	0.63880	0.908;0.993	P;D	0.70716	0.835;0.97	D	0.96484	0.9358	10	0.72032	D	0.01	-26.5945	17.1508	0.86777	0.0:0.0:1.0:0.0	.	154;393	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	D	440;94;393;154;393	ENSP00000264088:A440D;ENSP00000301454:A393D;ENSP00000408814:A154D;ENSP00000334537:A393D	ENSP00000264088:A440D	A	-	2	0	SLC25A23	6395206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.345000	0.97053	2.345000	0.79718	0.462000	0.41574	GCC			0.657	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453325.1		NM_024103		T	6444206	G	T	6444206	3	4	143	1	0	0	0	0	1	0	0	0	14509	1203	42	2	236	2	SLC25A23	19	6444206	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		6444206	52684777	36	10555											
GPATCH1	55094	mdanderson.org	37	chr19	33610018	33610018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgcctcccgtcttctGccccagtgagtgcagagccc	4	8	12	17	2	2	2	0	1	2	1	3	2	3	2	5	1	4	2	5	1	0	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr19:33610018G>T	ENST00000170564.2	+	17	2830	c.2516G>T	c.(2515-2517)tGc>tTc	p.C839F		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	839					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)					CCCGTCTTCTGCCCCAGTGAG	0.557											OREG0025409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C839F	Pancreas(67;88 1713 4567 18227)												.	.			0			c.G2516T												33	31	32					19																	33610018		2203	4300	6503	SO:0001583	missense	55094	exon17			TCTTCTGCCCCAG	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.2516G>T	19.37:g.33610018G>T	ENSP00000170564:p.Cys839Phe		35	0	0	841	45	0.07	3	NM_018025	66	0	0	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152009	0.57151	.	.	ENSG00000076650	ENST00000170564	T	0.11277	2.79	4.79	4.79	0.61399	.	0.329050	0.31936	N	0.006828	T	0.19327	0.0464	L	0.57536	1.79	0.30422	N	0.778014	D;D	0.57899	0.981;0.981	P;P	0.51999	0.491;0.687	T	0.02983	-1.1086	10	0.54805	T	0.06	-10.5665	11.5995	0.50995	0.0:0.1801:0.8198:0.0	.	839;839	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	F	839	ENSP00000170564:C839F	ENSP00000170564:C839F	C	+	2	0	GPATCH1	38301858	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.873000	0.39558	2.358000	0.79984	0.655000	0.94253	TGC			0.557	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450834.1		NM_018025		T	33610018	G	T	33610018	3	4	143	1	0	0	0	0	1	0	0	0	6604	1319	46	2	2582	2	GPATCH1	19	33610018	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	27165812	33610018	25518965	37	10556											
ZNF135	7694	broad.mit.edu	37	chr19	58578438	58578438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggggaacacgtggaaaaAgggagaagccagacctaaat	17	4	13	7	1	0	2	0	0	0	2	0	5	0	4	2	4	2	0	2	4	6	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr19:58578438A>G	ENST00000313434.5	+	5	687	c.586A>G	c.(586-588)Agg>Ggg	p.R196G	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.R196G|ZNF135_ENST00000511556.1_Missense_Mutation_p.R208G|ZNF135_ENST00000401053.4_Missense_Mutation_p.R220G|ZNF135_ENST00000359978.6_Missense_Mutation_p.R208G|ZNF135_ENST00000506786.1_Missense_Mutation_p.R154G	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	196					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACGTGGAAAAAGGGAGAAGCC	0.458																																					p.R220G													ZNF135_ENST00000401053,right_upper_lobe,carcinoma,0,2	ZNF135	159	2	0			c.A658G												65	64	65					19																	58578438		2203	4300	6503	SO:0001583	missense	7694	exon4			GGAAAAAGGGAGA	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.586A>G	19.37:g.58578438A>G	ENSP00000321406:p.Arg196Gly		71	0	0		65	0.05	3	NM_007134	17	0	0	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	A	8.387	0.838946	0.16891	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.06294	3.42;3.49;3.43;3.43;3.43;3.32	2.94	2.94	0.34122	.	.	.	.	.	T	0.05960	0.0155	L	0.42245	1.32	0.09310	N	0.999991	B;B;B	0.23185	0.004;0.081;0.01	B;B;B	0.18263	0.003;0.021;0.004	T	0.28038	-1.0056	9	0.44086	T	0.13	.	4.798	0.13282	0.8599:0.0:0.1401:0.0	.	208;196;208	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	G	208;220;208;196;196;208;154	ENSP00000441410:R220G;ENSP00000369437:R208G;ENSP00000444828:R196G;ENSP00000321406:R196G;ENSP00000422074:R208G;ENSP00000427691:R154G	ENSP00000321406:R196G	R	+	1	2	ZNF135	63270250	.	.	0.003000	0.11579	0.052000	0.14988	.	.	1.609000	0.50190	0.374000	0.22700	AGG			0.458	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000361899.2		NM_003436		G	58578438	A	G	58578438	3	3	143	1	0	0	0	0	1	0	0	0	17748	63	3	4	789	4	ZNF135	19	58578438	Missense_Mutation	SNP	A	TCGA-ZM-AA0D-01A-11D-A435-10	24968420	58578438	550545	38	10557											
SMOX	54498	hgsc.bcm.edu;broad.mit.edu	37	chr20	4162476	4162476	+	Frame_Shift_Del	DEL	C	C	-																															aacttgacccaggagttcttCcggcacgataaaccagtcaa																										TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr20:4162476delC	ENST00000305958.4	+	4	687	c.462delC	c.(460-462)ttcfs	p.F154fs	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Frame_Shift_Del_p.F154fs|SMOX_ENST00000278795.3_Frame_Shift_Del_p.F154fs|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000379460.2_Frame_Shift_Del_p.F154fs	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	154					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)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGGAGTTCTTCCGGCACGATA	0.527																																					p.F154fs													.	SMOX	119		0			c.461delT												93	91	92					20																	4162476		2203	4300	6503	SO:0001589	frameshift_variant	54498	exon4			GTTCTTCCGGCAC	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.462delC	20.37:g.4162476delC	ENSP00000307252:p.Phe154fs		116	0	0		114	0.1	11	NM_175839	9	0	0	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Frame_Shift_Del	DEL	ENST00000305958.4	37	CCDS13075.1																																																																																					0.527	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077806.1		NM_175842		-	4162476	C	-	4162476	7	5	143	1	0	1	0	1	0	0	0	0	14826	854	30	0	472	0	SMOX	20	4162476	Frame_Shift_Del	DEL	C	TCGA-ZM-AA0D-01A-11D-A435-10		4162476	58863044	39	10558											
TTLL9	164395	mdanderson.org	37	chr20	30486361	30486361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggccaggatgggtggaaGtgaaggagtaagaccctccc	12	5	15	9	0	0	2	0	1	0	1	1	5	1	5	3	5	0	1	3	5	3	1			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr20:30486361G>T	ENST00000375938.4	+	4	452	c.199G>T	c.(199-201)Gtg>Ttg	p.V67L	TTLL9_ENST00000375922.4_Missense_Mutation_p.V17L|TTLL9_ENST00000310998.4_Missense_Mutation_p.V17L|TTLL9_ENST00000535842.1_Missense_Mutation_p.V67L|TTLL9_ENST00000375934.4_Missense_Mutation_p.V49L|TTLL9_ENST00000375921.2_Missense_Mutation_p.V17L|RNU1-94P_ENST00000362627.1_RNA			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	67	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGGGTGGAAGTGAAGGAGTA	0.562																																					p.V67L													.	.			0			c.G199T												84	86	86					20																	30486361		2042	4192	6234	SO:0001583	missense	164395	exon4			GTGGAAGTGAAGG	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.199G>T	20.37:g.30486361G>T	ENSP00000365105:p.Val67Leu		147	0	0		106	0.05	5	NM_001008409	0		0	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374997	0.61735	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.11277	3.73;3.73;3.71;3.01;2.79;3.72	5.48	5.48	0.80851	.	0.152261	0.24693	U	0.036379	T	0.13756	0.0333	M	0.64080	1.96	0.43152	D	0.994923	P	0.35124	0.485	B	0.29598	0.104	T	0.01604	-1.1314	10	0.66056	D	0.02	.	14.8474	0.70270	0.0:0.0:1.0:0.0	.	67	Q3SXZ7	TTLL9_HUMAN	L	67;67;17;17;49;49;17	ENSP00000365105:V67L;ENSP00000442515:V67L;ENSP00000308980:V17L;ENSP00000365086:V17L;ENSP00000365100:V49L;ENSP00000365088:V17L	ENSP00000308980:V17L	V	+	1	0	TTLL9	29950022	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.431000	0.66507	2.582000	0.87167	0.563000	0.77884	GTG			0.562	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001008409		T	30486361	G	T	30486361	3	4	143	1	0	0	0	0	1	0	0	0	16758	1029	36	3	209	3	TTLL9	20	30486361	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	26323885	30486361	32539159	40	10559											
SALL4	57167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr20	50408195	50408195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttccagctttctggCtgagcaaagccacagctgca	8	10	10	13	0	1	1	0	1	1	0	2	1	2	1	2	2	5	6	2	2	1	3			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr20:50408195C>T	ENST00000217086.4	-	2	938	c.827G>A	c.(826-828)aGc>aAc	p.S276N	SALL4_ENST00000395997.3_Missense_Mutation_p.S276N|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	276					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCTTTCTGGCTGAGCAAAGC	0.607																																					p.S276N													.	.			0			c.G827A												53	44	47					20																	50408195		2203	4300	6503	SO:0001583	missense	57167	exon2			TTCTGGCTGAGCA	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.827G>A	20.37:g.50408195C>T	ENSP00000217086:p.Ser276Asn		45	0	0		47	0.11	5	NM_020436	12	0.17	2	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091002	0.36855	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.70749	-0.51;-0.51	5.29	4.35	0.52113	.	0.116249	0.39759	N	0.001276	T	0.71863	0.3390	M	0.80028	2.48	0.80722	D	1	B;B	0.18863	0.031;0.003	B;B	0.10450	0.005;0.003	T	0.72004	-0.4421	10	0.87932	D	0	-37.3797	13.21	0.59819	0.0:0.9227:0.0:0.0773	.	276;276	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	N	276	ENSP00000217086:S276N;ENSP00000379319:S276N	ENSP00000217086:S276N	S	-	2	0	SALL4	49841602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.836000	0.62789	1.225000	0.43566	0.655000	0.94253	AGC			0.607	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079738.3				T	50408195	C	T	50408195	3	4	143	1	0	0	0	0	1	0	0	0	13836	797	28	2	2346	2	SALL4	20	50408195	Missense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10	19921834	50408195	12617325	41	10560											
CDC42EP1	11135	mdanderson.org	37	chr22	37964167	37964167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccgctcggaaaagccGcatgaccgagaccgggatgg	9	4	14	14	5	0	2	0	1	0	1	1	5	0	4	5	3	2	2	5	3	2	0			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chr22:37964167G>A	ENST00000249014.4	+	3	936	c.516G>A	c.(514-516)ccG>ccA	p.P172P		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	172					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)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGGAAAAGCCGCATGACCGAG	0.647																																					p.P172P													.	.			0			c.G516A												85	95	92					22																	37964167		2203	4300	6503	SO:0001819	synonymous_variant	11135	exon3			AAAGCCGCATGAC	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.516G>A	22.37:g.37964167G>A			70	0	0		46	0.07	3	NM_152243	45	0	0	A8K825|Q96GN1	Silent	SNP	ENST00000249014.4	37	CCDS13949.1																																																																																					0.647	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318993.1		NM_152243		A	37964167	G	A	37964167	2	1	143	1	0	0	0	0	0	0	0	1	3077	1074	38	1		1	CDC42EP1	22	37964167	Silent	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10		37964167	13340399	42	10561											
ARHGAP6	395	hgsc.bcm.edu	37	chrX	11197553	11197553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagacatcaatcccaCggtcaaattcctcacgtaac	14	7	6	14	2	3	2	3	0	0	2	5	3	5	2	3	1	1	1	3	1	3	2			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chrX:11197553C>A	ENST00000337414.4	-	7	2221	c.1349G>T	c.(1348-1350)cGt>cTt	p.R450L	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R259L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R482L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R247L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R450L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R247L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R275L|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	450	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						ATCAATCCCACGGTCAAATTC	0.522																																					p.R450L													.	.			0			c.G1349T												148	103	119					X																	11197553		2203	4300	6503	SO:0001583	missense	395	exon7			ATCCCACGGTCAA	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.1349G>T	X.37:g.11197553C>A	ENSP00000338967:p.Arg450Leu		52	0	0		68	0.06	4	NM_006125	0		0	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463909	0.84425	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.61	5.61	0.85477	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.53938	D	0.000044	T	0.39036	0.1063	L	0.58302	1.8	0.80722	D	1	P;P;P;P;P	0.52061	0.485;0.518;0.847;0.897;0.95	B;B;P;P;P	0.54590	0.147;0.235;0.457;0.627;0.756	T	0.11227	-1.0596	10	0.62326	D	0.03	.	18.7948	0.91990	0.0:1.0:0.0:0.0	.	259;247;450;450;450	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	275;247;247;450;286;450;259;482	ENSP00000438135:R275L;ENSP00000370112:R247L;ENSP00000302312:R247L;ENSP00000338967:R450L;ENSP00000370093:R286L;ENSP00000370094:R450L;ENSP00000389394:R259L;ENSP00000370108:R482L	ENSP00000302312:R247L	R	-	2	0	ARHGAP6	11107474	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.924000	0.48876	2.385000	0.81259	0.523000	0.50628	CGT			0.522	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000055760.2		NM_013427		A	11197553	C	A	11197553	3	1	143	1	0	0	0	0	1	0	0	0	887	536	19	1	1725	1	ARHGAP6	23	11197553	Missense_Mutation	SNP	C	TCGA-ZM-AA0D-01A-11D-A435-10		11197553	144073007	43	10562											
NUDT10	170685	mdanderson.org	37	chrX	51075901	51075901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgcttccggagcgaGcgcgaggacgaggtcctgtt	5	9	16	11	5	0	0	0	0	0	0	2	5	2	2	3	3	4	2	3	3	0	2	rs2801627		TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chrX:51075901G>A	ENST00000376006.3	+	2	304	c.84G>A	c.(82-84)gaG>gaA	p.E28E	NUDT10_ENST00000356450.2_Silent_p.E28E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E28E(2)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TCCGGAGCGAGCGCGAGGACG	0.687																																					p.E28E	NSCLC(90;1817 2035 37909 38249)												.	.			2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|prostate(1)	c.G84A												41	35	37					X																	51075901		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			GAGCGAGCGCGAG	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.84G>A	X.37:g.51075901G>A			198	0.0050505051	1		202	0.04	9	NM_153183	0		0	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																					0.687	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056578.1		NM_153183		A	51075901	G	A	51075901	2	1	143	1	0	0	0	0	0	0	0	1	10743	962	34	2		2	NUDT10	23	51075901	Silent	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	39878348	51075901	104194659	44	10563											
FAM123B	139285	mdanderson.org	37	chrX	63410103	63410103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtaggtgtgagggacGagctagttgaggcccagatt	9	9	17	6	1	0	3	0	2	0	1	0	5	0	4	1	4	1	3	1	4	2	4			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chrX:63410103G>T	ENST00000330258.3	-	2	3336	c.3064C>A	c.(3064-3066)Cgt>Agt	p.R1022S	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1022	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TGTGAGGGACGAGCTAGTTGA	0.567																																					p.R1022S													.	.			67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.C3064A												52	59	57					X																	63410103		2117	4216	6333	SO:0001583	missense	139285	exon2			AGGGACGAGCTAG	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3064C>A	X.37:g.63410103G>T	ENSP00000329117:p.Arg1022Ser		45	0	0		49	0.06	3	NM_152424	0		0	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121431	0.37436	.	.	ENSG00000184675	ENST00000330258	T	0.59364	0.27	4.93	4.07	0.47477	.	.	.	.	.	T	0.48537	0.1505	L	0.27053	0.805	0.80722	D	1	P	0.49961	0.93	P	0.48488	0.579	T	0.37753	-0.9692	8	.	.	.	-6.5728	9.7959	0.40735	0.0988:0.0:0.9012:0.0	.	1022	Q5JTC6	F123B_HUMAN	S	1022	ENSP00000329117:R1022S	.	R	-	1	0	FAM123B	63326828	0.026000	0.19158	0.949000	0.38748	0.183000	0.23260	0.693000	0.25497	1.221000	0.43506	-0.297000	0.09499	CGT			0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316584.1		NM_152424		T	63410103	G	T	63410103	3	4	143	1	0	0	0	0	1	0	0	0	5433	1058	37	1	347	1	FAM123B	23	63410103	Missense_Mutation	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	12334202	63410103	91860457	45	10564											
SMARCA1	6594	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chrX	128625996	128625996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttgccaggttaattccGagacctccagccctggtact	8	10	9	14	1	0	1	0	0	0	1	2	2	2	1	5	2	3	3	5	2	2	4			TCGA-ZM-AA0D-01A-11D-A435-10	TCGA-ZM-AA0D-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbb77b02-9739-4272-bf41-30251840590b	7ac40e81-4d59-492f-a5cf-f3b25df9905c	g.chrX:128625996G>A	ENST00000371122.4	-	14	1866	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	SMARCA1_ENST00000371121.3_Silent_p.L567L|SMARCA1_ENST00000371123.1_Silent_p.L567L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	579	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						GGTTAATTCCGAGACCTCCAG	0.378																																					p.L579L													.	SMARCA1	126		0			c.C1737T												152	145	148					X																	128625996		2203	4300	6503	SO:0001819	synonymous_variant	6594	exon14			AATTCCGAGACCT	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.1737C>T	X.37:g.128625996G>A			189	0	0		209	0.13	27	NM_003069	3	0	0	Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	CCDS14612.1																																																																																					0.378	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058206.1		NM_003069		A	128625996	G	A	128625996	2	1	143	1	0	0	0	0	0	0	0	1	14791	1045	37	1		1	SMARCA1	23	128625996	Silent	SNP	G	TCGA-ZM-AA0D-01A-11D-A435-10	65215893	128625996	26644564	46	10565											
PTPRF	5792	mdanderson.org	37	chr1	44064408	44064408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccagcgggcctccgCggaaggtggaggtggagcca	7	4	18	12	3	0	0	0	0	0	0	1	3	1	3	4	6	3	0	4	6	1	0			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr1:44064408C>T	ENST00000359947.4	+	13	2477	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	PTPRF_ENST00000422171.2_Missense_Mutation_p.R70W|PTPRF_ENST00000438120.1_Missense_Mutation_p.R713W|PTPRF_ENST00000372413.3_Missense_Mutation_p.R713W|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R713W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	713	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGGGCCTCCGCGGAAGGTGGA	0.622																																					p.R713W													.	.			0			c.C2137T												53	53	53					1																	44064408		2203	4300	6503	SO:0001583	missense	5792	exon13			CCTCCGCGGAAGG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2137C>T	1.37:g.44064408C>T	ENSP00000353030:p.Arg713Trp		117	0	0		70	0.06	4	NM_002840	3	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.42|15.42	2.828596|2.828596	0.50845|0.50845	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171	.|T;T;T;T;T	.|0.59083	.|0.29;0.29;0.29;0.29;0.29	4.35|4.35	-0.522|-0.522	0.11928|0.11928	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.568034	.|0.13365	.|N	.|0.393399	T|T	0.81192|0.81192	0.4771|0.4771	H|H	0.95679|0.95679	3.705|3.705	0.45528|0.45528	D|D	0.998488|0.998488	.|D;D;D;D;D	.|0.89917	.|1.0;0.994;1.0;0.995;0.999	.|D;P;D;P;D	.|0.77004	.|0.989;0.79;0.985;0.788;0.985	D|D	0.84394|0.84394	0.0556|0.0556	5|10	.|0.54805	.|T	.|0.06	.|.	14.2344|14.2344	0.65916|0.65916	0.6255:0.3745:0.0:0.0|0.6255:0.3745:0.0:0.0	.|.	.|369;70;472;713;713	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	V|W	278;135|713;713;713;713;70	.|ENSP00000353030:R713W;ENSP00000398822:R713W;ENSP00000361491:R713W;ENSP00000361490:R713W;ENSP00000387885:R70W	.|ENSP00000353030:R713W	A|R	+|+	2|1	0|2	PTPRF|PTPRF	43836995|43836995	0.001000|0.001000	0.12720|0.12720	0.485000|0.485000	0.27403|0.27403	0.852000|0.852000	0.48524|0.48524	-0.042000|-0.042000	0.12063|0.12063	0.027000|0.027000	0.15297|0.15297	-0.513000|-0.513000	0.04457|0.04457	GCG|CGG			0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000019710.1				T	44064408	C	T	44064408	3	4	144	1	0	0	0	0	1	0	0	0	12824	759	27	1	2179	1	PTPRF	1	44064408	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10		44064408	205186213	1	10566											
BCL9	607	hgsc.bcm.edu;broad.mit.edu	37	chr1	147084715	147084715	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggaggtgatggtccgTccccctacagtgatgtcccc	8	8	12	13	1	0	2	0	2	0	0	3	3	3	3	5	3	2	1	5	3	2	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr1:147084715T>C	ENST00000234739.3	+	5	827	c.87T>C	c.(85-87)cgT>cgC	p.R29R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	29					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)					TGATGGTCCGTCCCCCTACAG	0.502			T	"IGH@, IGL@"	B-ALL																																p.R29R				Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	BCL9_ENST00000234739,right_upper_lobe,carcinoma,0,1	BCL9_ENST00000234739	0	1	0			c.T87C												87	90	89					1																	147084715		2203	4300	6503	SO:0001819	synonymous_variant	607	exon5			GGTCCGTCCCCCT	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.87T>C	1.37:g.147084715T>C			74	0	0		61	0.05	3	NM_004326	1	0	0	Q5T489	Silent	SNP	ENST00000234739.3	37	CCDS30833.1																																																																																					0.502	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039468.1		NM_004326		C	147084715	T	C	147084715	2	2	144	1	0	0	0	0	0	0	0	1	1381	1654	58	4		4	BCL9	1	147084715	Silent	SNP	T	TCGA-ZM-AA0E-01A-12D-A435-10	103020307	147084715	102165906	2	10567											
DHX9	1660	mdanderson.org	37	chr1	182852411	182852411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattctcaccactgaagggCgtaatgcacttatccacaaa	14	9	7	11	1	1	2	1	1	1	1	3	2	2	2	2	1	1	2	2	1	4	3			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr1:182852411C>T	ENST00000367549.3	+	25	3162	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1018					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CACTGAAGGGCGTAATGCACT	0.393																																					p.R1018C	Colon(69;210 1162 3697 13559 39565)												.	.			0			c.C3052T												140	119	125					1																	182852411		1905	4124	6029	SO:0001583	missense	1660	exon25			GAAGGGCGTAATG	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3052C>T	1.37:g.182852411C>T	ENSP00000356520:p.Arg1018Cys		123	0	0		119	0.04	5	NM_001357	48	0	0	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265194	0.80358	.	.	ENSG00000135829	ENST00000367549	T	0.61742	0.08	5.38	5.38	0.77491	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64877	0.93;0.93	T	0.78529	-0.2169	10	0.72032	D	0.01	.	14.0387	0.64660	0.151:0.849:0.0:0.0	.	297;1018	B3KU66;Q08211	.;DHX9_HUMAN	C	1018	ENSP00000356520:R1018C	ENSP00000356520:R1018C	R	+	1	0	DHX9	181119034	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	4.228000	0.58619	2.501000	0.84356	0.650000	0.86243	CGT			0.393	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085522.2		NM_030588		T	182852411	C	T	182852411	3	4	144	1	0	0	0	0	1	0	0	0	4521	768	27	1	3146	1	DHX9	1	182852411	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	35767696	182852411	66398210	3	10568											
TRIM67	440730	mdanderson.org	37	chr1	231299690	231299690	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaccccggtgtgttatctGtgcctggaggagggccggca	6	8	16	11	3	1	0	0	0	1	0	1	3	1	2	4	5	2	2	4	5	2	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr1:231299690G>T	ENST00000366653.5	+	1	975	c.975G>T	c.(973-975)ctG>ctT	p.L325L	TRIM67_ENST00000449018.3_Silent_p.L263L|TRIM67_ENST00000444294.3_Silent_p.L325L|TRIM67_ENST00000366652.2_Silent_p.L325L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	325					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)				TGTGTTATCTGTGCCTGGAGG	0.652																																					p.L325L													.	.			0			c.G975T												19	22	21					1																	231299690		2061	4193	6254	SO:0001819	synonymous_variant	440730	exon1			TTATCTGTGCCTG	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.975G>T	1.37:g.231299690G>T			79	0	0		48	0.06	3	NM_001004342	0		0	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	CCDS44333.1																																																																																					0.652	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092649.3		NM_001004342		T	231299690	G	T	231299690	2	4	144	1	0	0	0	0	0	0	0	1	16564	1364	48	3		3	TRIM67	1	231299690	Silent	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	48447279	231299690	17950931	4	10569											
CEP68	23177	mdanderson.org	37	chr2	65299480	65299480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgggagcgcagagagccagCcctgaggggtgcgaaggacc	9	4	18	10	2	0	2	0	1	0	1	0	6	0	4	3	4	4	1	3	4	1	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr2:65299480C>A	ENST00000377990.2	+	3	1453	c.1250C>A	c.(1249-1251)gCc>gAc	p.A417D	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.A417D|CEP68_ENST00000537589.1_Missense_Mutation_p.A29D|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.A417D	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	417					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGAGAGCCAGCCCTGAGGGGT	0.627																																					p.A417D													.	.			0			c.C1250A												63	62	62					2																	65299480		2203	4300	6503	SO:0001583	missense	23177	exon3			AGCCAGCCCTGAG	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1250C>A	2.37:g.65299480C>A	ENSP00000367229:p.Ala417Asp		74	0	0		43	0.07	3	NM_015147	5	0	0	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048567	0.55110	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000537589;ENST00000260569;ENST00000545501	T;T;T;T	0.31247	2.1;2.15;1.5;2.16	5.26	3.46	0.39613	.	0.762984	0.12228	N	0.487759	T	0.49949	0.1587	M	0.72118	2.19	0.19575	N	0.999968	P;P;P;D;P	0.71674	0.919;0.815;0.919;0.998;0.919	P;B;P;D;P	0.64237	0.587;0.413;0.59;0.923;0.587	T	0.31138	-0.9954	10	0.62326	D	0.03	-2.4937	9.207	0.37296	0.0:0.8346:0.0:0.1654	.	405;417;417;417;417	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	D	417;417;29;417;405	ENSP00000367229:A417D;ENSP00000438306:A417D;ENSP00000443357:A29D;ENSP00000260569:A417D	ENSP00000260569:A417D	A	+	2	0	CEP68	65152984	0.000000	0.05858	0.053000	0.19242	0.711000	0.40976	0.136000	0.15974	0.789000	0.33779	0.591000	0.81541	GCC			0.627	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251727.2		NM_015147		A	65299480	C	A	65299480	3	1	144	1	0	0	0	0	1	0	0	0	3260	739	26	2	1256	2	CEP68	2	65299480	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10		65299480	177899893	5	10570											
NCKAP5	344148	mdanderson.org	37	chr2	133543187	133543187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttagcccttccaaaatgtgGctttccttgatacgagttgg	8	14	9	10	1	0	1	0	1	0	0	2	2	2	1	3	2	2	2	3	2	4	6			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr2:133543187G>T	ENST00000409261.1	-	14	1570	c.1197C>A	c.(1195-1197)agC>agA	p.S399R	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S399R|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	399										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCAAAATGTGGCTTTCCTTGA	0.418																																					p.S399R													NCKAP5,caecum,carcinoma,0,1	NCKAP5	0	1	0			c.C1197A												96	89	91					2																	133543187		1854	4099	5953	SO:0001583	missense	344148	exon14			AATGTGGCTTTCC	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1197C>A	2.37:g.133543187G>T	ENSP00000387128:p.Ser399Arg		124	0.0080645161	1		85	0.05	4	NM_207363	0		0	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337445	0.60963	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.14766	2.48;2.48	5.24	1.51	0.23008	.	0.174998	0.26251	U	0.025441	T	0.19327	0.0464	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.62813	0.907	T	0.00920	-1.1514	10	0.72032	D	0.01	.	8.7211	0.34441	0.2898:0.0:0.7102:0.0	.	399	O14513	NCKP5_HUMAN	R	399	ENSP00000387128:S399R;ENSP00000380603:S399R	ENSP00000380603:S399R	S	-	3	2	NCKAP5	133259657	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.483000	0.45233	0.098000	0.17522	0.650000	0.86243	AGC			0.418	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000331663.1		NM_207481		T	133543187	G	T	133543187	3	4	144	1	0	0	0	0	1	0	0	0	10240	1194	42	2	4560	2	NCKAP5	2	133543187	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	68243707	133543187	109656186	6	10571											
C2orf77	129881	broad.mit.edu	37	chr2	170518895	170518895	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctttatttcctcagcatcTttttcttcatattttttcct	5	23	2	11	1	4	0	2	0	2	0	6	0	6	0	2	0	1	2	2	0	2	10			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr2:170518895T>C	ENST00000447353.1	-	5	819	c.714A>G	c.(712-714)aaA>aaG	p.K238K		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	238																	CCTCAGCATCTTTTTCTTCAT	0.308																																					p.K238K													.	.			0			c.A714G												104	102	103					2																	170518895		1798	4061	5859	SO:0001819	synonymous_variant	129881	exon5			AGCATCTTTTTCT	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.714A>G	2.37:g.170518895T>C			148	0	0		143	0.03	4	NM_001085447	0		0	Q6PJF6	Silent	SNP	ENST00000447353.1	37	CCDS46445.1																																																																																					0.308	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000333954.2		NM_001085447		C	170518895	T	C	170518895	2	2	144	1	0	0	0	0	0	0	0	1	2196	1606	56	4		4	C2orf77	2	170518895	Silent	SNP	T	TCGA-ZM-AA0E-01A-12D-A435-10	36975708	170518895	72680478	7	10572											
AOX1	316	broad.mit.edu;mdanderson.org	37	chr2	201467017	201467017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctccttcaggtaacctgtgCcgttgcactggatacaggcc	7	11	10	13	1	2	0	1	0	1	0	3	1	2	1	4	3	4	3	4	3	2	4			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr2:201467017C>T	ENST00000374700.2	+	6	688	c.447C>T	c.(445-447)tgC>tgT	p.C149C		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	149					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)	GTAACCTGTGCCGTTGCACTG	0.458																																					p.C149C													.	AOX1	152		0			c.C447T												185	162	170					2																	201467017		2203	4300	6503	SO:0001819	synonymous_variant	316	exon6			CCTGTGCCGTTGC	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.447C>T	2.37:g.201467017C>T			138	0	0		109	0.05	5	NM_001159	0		0	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	CCDS33360.1																																																																																					0.458	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335844.1		NM_001159		T	201467017	C	T	201467017	2	4	144	1	0	0	0	0	0	0	0	1	729	747	26	2		2	AOX1	2	201467017	Silent	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	30948122	201467017	41732356	8	10573											
PTPRG	5793	mdanderson.org	37	chr3	62263331	62263331	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacgcacagatcattgtcAtgctgccagacaaccagagc	14	7	8	12	1	2	3	2	0	0	3	2	3	2	3	2	0	5	2	2	0	2	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr3:62263331A>T	ENST00000474889.1	+	26	4119	c.3742A>T	c.(3742-3744)Atg>Ttg	p.M1248L	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.M1219L|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1248	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GATCATTGTCATGCTGCCAGA	0.388																																					p.M1248L													.	.			0			c.A3742T												106	103	104					3																	62263331		2203	4299	6502	SO:0001583	missense	5793	exon26			ATTGTCATGCTGC	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3742A>T	3.37:g.62263331A>T	ENSP00000418112:p.Met1248Leu		27	0	0		30	0.1	3	NM_002841	1	0	0	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910497	0.72983	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.15834	2.39;2.39	5.8	5.8	0.92144	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.92317	3.295	0.80722	D	1	P;D;D	0.65815	0.942;0.995;0.969	D;D;P	0.74674	0.96;0.984;0.898	T	0.64719	-0.6341	10	0.87932	D	0	.	16.1435	0.81544	1.0:0.0:0.0:0.0	.	494;1219;1248	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	L	1248;1219	ENSP00000418112:M1248L;ENSP00000295874:M1219L	ENSP00000295874:M1219L	M	+	1	0	PTPRG	62238371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.212000	0.71576	0.528000	0.53228	ATG			0.388	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351674.1		NM_002841		T	62263331	A	T	62263331	3	4	144	1	0	0	0	0	1	0	0	0	12825	217	8	5	3844	5	PTPRG	3	62263331	Missense_Mutation	SNP	A	TCGA-ZM-AA0E-01A-12D-A435-10		62263331	135759099	9	10574											
COPG	22820	mdanderson.org	37	chr3	128982812	128982812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaacacgccgtccttatGaacttcctgttcaccatgct	9	11	6	15	3	1	1	1	1	0	0	3	1	3	1	4	0	3	3	4	0	3	3			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr3:128982812G>T	ENST00000314797.6	+	13	1298	c.1194G>T	c.(1192-1194)atG>atT	p.M398I		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	398					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										CCGTCCTTATGAACTTCCTGT	0.557																																					p.M398I													.	.			0			c.G1194T												114	92	99					3																	128982812		2203	4300	6503	SO:0001583	missense	22820	exon13			CCTTATGAACTTC	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1194G>T	3.37:g.128982812G>T	ENSP00000325002:p.Met398Ile		95	0	0		73	0.05	4	NM_016128	10	0	0	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339600	0.60963	.	.	ENSG00000181789	ENST00000314797	T	0.21932	1.98	5.95	5.95	0.96441	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.72479	2.2	0.80722	D	1	P	0.40180	0.705	P	0.55824	0.785	T	0.03157	-1.1066	10	0.36615	T	0.2	-19.8852	17.887	0.88858	0.0:0.0:1.0:0.0	.	398	Q9Y678	COPG_HUMAN	I	398	ENSP00000325002:M398I	ENSP00000325002:M398I	M	+	3	0	COPG	130465502	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	9.576000	0.98192	2.824000	0.97209	0.655000	0.94253	ATG			0.557	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355456.1		NM_016128		T	128982812	G	T	128982812	3	4	144	1	0	0	0	0	1	0	0	0	3733	1290	45	3	1244	3	COPG	3	128982812	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	66719481	128982812	69039618	10	10575											
GPR125	166647	mdanderson.org	37	chr4	22404358	22404358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataagaggagaatgatagcgGtagtataaaccacaggatgc	17	7	12	5	1	0	3	0	1	0	2	0	5	0	4	1	3	3	2	1	3	7	5			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr4:22404358G>T	ENST00000334304.5	-	15	2566	c.2297C>A	c.(2296-2298)aCc>aAc	p.T766N	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	766					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)				AATGATAGCGGTAGTATAAAC	0.443																																					p.T766N													.	.			0			c.C2297A												112	113	113					4																	22404358		2203	4300	6503	SO:0001583	missense	166647	exon15			ATAGCGGTAGTAT	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.2297C>A	4.37:g.22404358G>T	ENSP00000334952:p.Thr766Asn		77	0	0		60	0.07	4	NM_145290	4	0	0	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166777	0.57476	.	.	ENSG00000152990	ENST00000334304	T	0.44482	0.92	4.62	4.62	0.57501	GPCR, family 2-like (1);	0.053581	0.64402	D	0.000001	T	0.44008	0.1273	L	0.58101	1.795	0.80722	D	1	P;P	0.43231	0.552;0.801	B;B	0.41374	0.142;0.355	T	0.44283	-0.9338	10	0.37606	T	0.19	-23.755	17.8048	0.88599	0.0:0.0:1.0:0.0	.	623;766	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	N	766	ENSP00000334952:T766N	ENSP00000334952:T766N	T	-	2	0	GPR125	22013456	1.000000	0.71417	0.052000	0.19188	0.623000	0.37688	9.035000	0.93752	2.288000	0.76882	0.591000	0.81541	ACC			0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000362960.3				T	22404358	G	T	22404358	3	4	144	1	0	0	0	0	1	0	0	0	6653	1261	44	3	1688	3	GPR125	4	22404358	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		22404358	168749918	11	10576											
N4BP2	55728	mdanderson.org	37	chr4	40122253	40122253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagattgtgtccagcaacGaggatctccacatgaaagtg	13	9	10	9	1	1	2	0	1	1	1	3	4	2	3	2	1	3	1	2	1	3	2	rs149362796	byFrequency	TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr4:40122253G>T	ENST00000261435.6	+	9	2938	c.2522G>T	c.(2521-2523)cGa>cTa	p.R841L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	841					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						GTCCAGCAACGAGGATCTCCA	0.368																																					p.R841L													.	.			0			c.G2522T												66	63	64					4																	40122253		2203	4300	6503	SO:0001583	missense	55728	exon9			AGCAACGAGGATC	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.2522G>T	4.37:g.40122253G>T	ENSP00000261435:p.Arg841Leu		95	0	0		89	0.04	4	NM_018177	0		0	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	8.226	0.803618	0.16467	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.17528	2.27	5.12	-6.17	0.02091	.	1.765290	0.02932	N	0.139289	T	0.11623	0.0283	L	0.36672	1.1	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.10450	0.005;0.002	T	0.23297	-1.0192	10	0.22109	T	0.4	6.4769	5.7476	0.18128	0.2075:0.1202:0.5543:0.1179	.	841;841	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	L	841;761	ENSP00000261435:R841L	ENSP00000261435:R841L	R	+	2	0	N4BP2	39798648	0.000000	0.05858	0.000000	0.03702	0.573000	0.36030	-1.457000	0.02374	-1.111000	0.02988	-0.367000	0.07326	CGA			0.368	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250458.2		NM_018177		T	40122253	G	T	40122253	3	4	144	1	0	0	0	0	1	0	0	0	10126	1058	37	1	2548	1	N4BP2	4	40122253	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	17717895	40122253	151032023	12	10577											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr4	55593661	55593661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacatagacccaacacaacTtccttatgatcacaaatggg	15	10	5	11	0	1	2	1	1	0	1	2	2	2	2	2	1	3	0	2	1	6	4	rs121913513		TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr4:55593661T>C	ENST00000288135.5	+	11	1824	c.1727T>C	c.(1726-1728)cTt>cCt	p.L576P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	576					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L576P(63)|p.Y570_L576del(9)|p.L576del(6)|p.V560_L576del(4)|p.N564_L576del(2)|p.I571_L576del(2)|p.I563_L576del(2)|p.Q556_L576del(2)|p.Q575_P577>T(2)|p.N564_Y578del(2)|p.V569_L576del(1)|p.N567_L576>E(1)|p.E561_P577del(1)|p.N564_P577del(1)|p.V559_L576del(1)|p.I571_N587del(1)|p.V569_L576>G(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAACACAACTTCCTTATGAT	0.408		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.L576P			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,NS,malignant_melanoma,0,86	KIT	0	86	101	Substitution - Missense(63)|Deletion - In frame(34)|Complex - deletion inframe(4)	soft_tissue(52)|skin(43)|testis(2)|NS(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	c.T1727C												74	74	74					4																	55593661		2203	4300	6503	SO:0001583	missense	3815	exon11	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	CACAACTTCCTTA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1727T>C	4.37:g.55593661T>C	ENSP00000288135:p.Leu576Pro		104	0	0		92	0.05	5	NM_000222	3	0.67	2	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.479382	0.63849	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.97553	-4.43;-4.43	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000031	D	0.97216	0.9090	M	0.87617	2.895	0.80722	D	1	P;D;B	0.54772	0.837;0.968;0.256	B;B;B	0.43783	0.139;0.431;0.082	D	0.97709	1.0189	10	0.87932	D	0	.	16.6003	0.84812	0.0:0.0:0.0:1.0	.	83;572;576	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	P	576;572	ENSP00000288135:L576P;ENSP00000390987:L572P	ENSP00000288135:L576P	L	+	2	0	KIT	55288418	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.880000	0.87243	2.319000	0.78375	0.533000	0.62120	CTT			0.408	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				C	55593661	T	C	55593661	3	2	144	1	0	0	0	0	1	0	0	0	8344	1609	56	4	1769	4	KIT	4	55593661	Missense_Mutation	SNP	T	TCGA-ZM-AA0E-01A-12D-A435-10	15471408	55593661	135560615	13	10578											
TLR2	7097	mdanderson.org	37	chr4	154625737	154625737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcttgattgattggccaGcaaattacctgtgtgactct	10	14	9	8	0	2	3	0	3	2	0	2	3	2	3	2	1	2	1	2	1	3	4			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr4:154625737G>A	ENST00000260010.6	+	1	3086	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	560	LRRCT.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|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 biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TGATTGGCCAGCAAATTACCT	0.527																																					p.A560T													.	.			0			c.G1678A												91	83	85					4																	154625737		2203	4300	6503	SO:0001583	missense	7097	exon3			TGGCCAGCAAATT	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1678G>A	4.37:g.154625737G>A	ENSP00000260010:p.Ala560Thr		87	0	0		47	0.09	4	NM_003264	13	0	0	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525970	0.27299	.	.	ENSG00000137462	ENST00000260010	T	0.23754	1.89	5.16	5.16	0.70880	Cysteine-rich flanking region, C-terminal (1);	0.669740	0.14613	N	0.308892	T	0.20577	0.0495	L	0.27053	0.805	0.21355	N	0.999711	B	0.02656	0.0	B	0.04013	0.001	T	0.11518	-1.0584	10	0.59425	D	0.04	.	13.0103	0.58727	0.0772:0.0:0.9228:0.0	.	560	O60603	TLR2_HUMAN	T	560	ENSP00000260010:A560T	ENSP00000260010:A560T	A	+	1	0	TLR2	154845187	0.021000	0.18746	0.344000	0.25628	0.231000	0.25187	1.362000	0.34148	2.405000	0.81733	0.655000	0.94253	GCA			0.527	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365205.1				A	154625737	G	A	154625737	3	1	144	1	0	0	0	0	1	0	0	0	15974	971	34	2	1680	2	TLR2	4	154625737	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	99032076	154625737	36528539	14	10579											
TMEM174	134288	broad.mit.edu	37	chr5	72469939	72469939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctggaagaggaggccTgtgcctgcttctctcctccc	6	9	11	15	0	1	1	0	0	1	1	4	3	3	3	4	3	3	2	4	3	1	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr5:72469939T>C	ENST00000296776.5	+	2	728	c.679T>C	c.(679-681)Tgt>Cgt	p.C227R	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	227						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AGAGGAGGCCTGTGCCTGCTT	0.478																																					p.C227R													.	TMEM174	22		0			c.T679C												118	114	115					5																	72469939		2203	4300	6503	SO:0001583	missense	134288	exon2			GAGGCCTGTGCCT	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.679T>C	5.37:g.72469939T>C	ENSP00000296776:p.Cys227Arg		136	0	0		124	0.02	3	NM_153217	0		0	B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	T	8.309	0.821704	0.16678	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.14	2.62	0.31277	.	0.744461	0.13379	N	0.392303	T	0.16981	0.0408	N	0.04508	-0.205	0.20307	N	0.999911	B	0.06786	0.001	B	0.06405	0.002	T	0.17107	-1.0380	9	0.40728	T	0.16	-6.5503	8.1883	0.31352	0.0:0.2361:0.0:0.7639	.	227	Q8WUU8	TM174_HUMAN	R	227	.	ENSP00000296776:C227R	C	+	1	0	TMEM174	72505695	0.000000	0.05858	0.071000	0.20095	0.914000	0.54420	0.344000	0.19962	0.928000	0.37168	0.533000	0.62120	TGT			0.478	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254036.1		NM_153217		C	72469939	T	C	72469939	3	2	144	1	0	0	0	0	1	0	0	0	16113	1580	55	4	685	4	TMEM174	5	72469939	Missense_Mutation	SNP	T	TCGA-ZM-AA0E-01A-12D-A435-10		72469939	108445321	15	10580											
DIAPH1	1729	mdanderson.org	37	chr5	140953625	140953625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atccccaggagcaggtggtgGtggaataatagtgccagagt	11	8	15	7	0	0	1	0	0	0	1	1	3	1	3	3	5	2	1	3	5	3	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr5:140953625G>T	ENST00000398557.4	-	16	1932	c.1792C>A	c.(1792-1794)Cca>Aca	p.P598T	DIAPH1_ENST00000253811.6_Missense_Mutation_p.P598T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.P589T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.P598T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.P589T|DIAPH1_ENST00000518047.1_Missense_Mutation_p.P589T|DIAPH1_ENST00000389057.5_Missense_Mutation_p.P589T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.P544T	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	598	FH1.				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)			GCAGGTGGTGGTGGAATAATA	0.587																																					p.P598T													.	.			0			c.C1792A												46	49	48					5																	140953625		2077	4198	6275	SO:0001583	missense	1729	exon16			GTGGTGGTGGAAT	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.1792C>A	5.37:g.140953625G>T	ENSP00000381565:p.Pro598Thr		52	0	0		39	0.08	3	NM_005219	12	0	0	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	g	2.057	-0.416401	0.04766	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;T;T;T;T	0.32988	1.89;1.89;1.43;1.89;1.89;1.89;1.89;1.89	4.53	2.75	0.32379	.	0.590209	0.15836	N	0.242293	T	0.32793	0.0841	M	0.79123	2.44	0.36110	D	0.844729	B;B;B	0.27823	0.19;0.084;0.084	B;B;B	0.24155	0.051;0.031;0.031	T	0.27054	-1.0085	10	0.33940	T	0.23	.	9.9617	0.41699	0.171:0.0:0.829:0.0	.	544;589;598	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	T	598;544;589;589;589;598;598;589;37	ENSP00000373706:P598T;ENSP00000429282:P544T;ENSP00000381570:P589T;ENSP00000373709:P589T;ENSP00000381572:P589T;ENSP00000381565:P598T;ENSP00000253811:P598T;ENSP00000428268:P589T	ENSP00000253811:P598T	P	-	1	0	DIAPH1	140933809	0.286000	0.24305	0.026000	0.17262	0.080000	0.17528	1.065000	0.30592	0.553000	0.29044	-0.261000	0.10672	CCA			0.587	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				NM_005219		T	140953625	G	T	140953625	3	4	144	1	0	0	0	0	1	0	0	0	4523	1261	44	3	2078	3	DIAPH1	5	140953625	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	68483686	140953625	39961635	16	10581											
DBN1	1627	mdanderson.org	37	chr5	176885163	176885163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcagagttggggtctGgggggcagccagggactccc	6	6	20	9	0	1	2	0	1	1	1	2	3	2	3	2	7	1	3	2	7	0	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr5:176885163G>T	ENST00000309007.5	-	12	1891	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	DBN1_ENST00000393563.4_Missense_Mutation_p.Q290K|DBN1_ENST00000292385.5_Missense_Mutation_p.Q560K|DBN1_ENST00000512501.1_Missense_Mutation_p.Q290K|DBN1_ENST00000393565.1_Missense_Mutation_p.Q604K	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	558					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)			GTTGGGGTCTGGGGGGCAGCC	0.637																																					p.Q560K													.	.			0			c.C1678A												31	37	35					5																	176885163		2201	4294	6495	SO:0001583	missense	1627	exon13			GGGTCTGGGGGGC		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.1672C>A	5.37:g.176885163G>T	ENSP00000308532:p.Gln558Lys		109	0	0		78	0.05	4	NM_080881	225	0	0	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	6.723	0.502049	0.12822	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.31769	1.52;1.52;1.51;1.48;1.54	4.71	3.77	0.43336	.	4.412020	0.00628	N	0.000466	T	0.32224	0.0822	N	0.08118	0	0.25794	N	0.98458	B;P;P;P	0.52061	0.123;0.95;0.596;0.898	B;P;B;P	0.55011	0.023;0.766;0.088;0.525	T	0.46498	-0.9187	10	0.49607	T	0.09	-27.1584	9.5977	0.39584	0.0:0.1506:0.6948:0.1546	.	508;604;558;560	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	K	558;560;604;290;290	ENSP00000308532:Q558K;ENSP00000292385:Q560K;ENSP00000377195:Q604K;ENSP00000423208:Q290K;ENSP00000377193:Q290K	ENSP00000292385:Q560K	Q	-	1	0	DBN1	176817769	0.998000	0.40836	0.767000	0.31495	0.231000	0.25187	0.514000	0.22786	2.618000	0.88619	0.462000	0.41574	CAG			0.637	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000253429.2		NM_080881		T	176885163	G	T	176885163	3	4	144	1	0	0	0	0	1	0	0	0	4254	1357	47	3	289	3	DBN1	5	176885163	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	35931538	176885163	4030097	17	10582											
TYW1B	441250	broad.mit.edu	37	chr7	72093938	72093938	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcctggagctcgtccacGttccatgctttcacgagcat	7	11	10	13	3	1	0	1	0	0	0	4	2	3	1	3	2	3	4	3	2	1	3			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr7:72093938G>A	ENST00000435769.2	-	0	1674				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)										GCTCGTCCACGTTCCATGCTT	0.522																																					.													.	.			0			.												79	93	89					7																	72093938		692	1589	2281			441250	.			GTCCACGTTCCAT	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.72093938G>A			82	0	0		74	0.05	4	.	2	0	0	A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.522	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000347346.2		NM_001145440		A	72093938	G	A	72093938	1	1	144	0	1	0	0	0	0	0	0	0	16843	1136	40	1		1	TYW1B	7	72093938	RNA	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		72093938	87044725	18	10583											
TRRAP	8295	mdanderson.org	37	chr7	98507792	98507792	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctctgcctggggtgccCactgcccctgcagctcctgg	3	8	13	17	0	1	0	0	0	1	0	2	0	2	0	5	3	6	4	5	3	0	0			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr7:98507792C>A	ENST00000359863.4	+	15	1673	c.1464C>A	c.(1462-1464)ccC>ccA	p.P488P	TRRAP_ENST00000446306.3_Silent_p.P488P|TRRAP_ENST00000355540.3_Silent_p.P488P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	488	Pro-rich.				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)			CTGGGGTGCCCACTGCCCCTG	0.647																																					p.P488P													.	.			0			c.C1464A												69	77	74					7																	98507792		2203	4300	6503	SO:0001819	synonymous_variant	8295	exon15			GGTGCCCACTGCC	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.1464C>A	7.37:g.98507792C>A			49	0	0		41	0.07	3	NM_003496	1	0	0	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	7.022	0.558914	0.13436	.	.	ENSG00000196367	ENST00000456197	T	0.25912	1.77	5.91	-3.5	0.04710	.	0.127395	0.53938	D	0.000058	T	0.12646	0.0307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15838	-1.0423	7	0.12766	T	0.61	.	3.537	0.07798	0.0801:0.3427:0.2216:0.3556	.	.	.	.	Q	203	ENSP00000394645:P203Q	ENSP00000394645:P203Q	P	+	2	0	TRRAP	98345728	0.101000	0.21875	0.071000	0.20095	0.968000	0.65278	-0.011000	0.12721	-0.298000	0.08921	-0.181000	0.13052	CCA			0.647	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317978.1		NM_003496		A	98507792	C	A	98507792	2	1	144	1	0	0	0	0	0	0	0	1	16625	581	21	3		3	TRRAP	7	98507792	Silent	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	26413854	98507792	60630871	19	10584											
MUC17	140453	hgsc.bcm.edu	37	chr7	100682117	100682117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtggtcagttctgaggctGgcaccctttccacaactcct	6	11	10	14	1	2	1	1	1	1	0	4	1	4	1	3	4	1	3	3	4	1	2	rs555953599	byFrequency	TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr7:100682117G>A	ENST00000306151.4	+	3	7484	c.7420G>A	c.(7420-7422)Ggc>Agc	p.G2474S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2474	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)					TTCTGAGGCTGGCACCCTTTC	0.522													N|||	3	0.000599042	0	0	5008	,	,		27478	0		0	False		,,,				2504	0.0031				p.G2474S													MUC17,right_upper_lobe,carcinoma,-2,1	MUC17	-2	1	0			c.G7420A																																									SO:0001583	missense	140453	exon3			GAGGCTGGCACCC	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.7420G>A	7.37:g.100682117G>A	ENSP00000302716:p.Gly2474Ser		125	0.008	1		99	0.05	5	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	2.617	-0.289370	0.05605	.	.	ENSG00000169876	ENST00000306151	T	0.03468	3.92	0.869	-0.297	0.12820	.	.	.	.	.	T	0.01254	0.0041	N	0.02916	-0.46	0.09310	N	1	B	0.27286	0.174	B	0.19148	0.024	T	0.45131	-0.9282	9	0.02654	T	1	.	5.8185	0.18514	0.4085:0.0:0.5915:0.0	.	2474	Q685J3	MUC17_HUMAN	S	2474	ENSP00000302716:G2474S	ENSP00000302716:G2474S	G	+	1	0	MUC17	100468837	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.476000	0.06591	-0.655000	0.05387	-1.616000	0.00795	GGC			0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105		A	100682117	G	A	100682117	3	1	144	1	0	0	0	0	1	0	0	0	9990	1348	47	3	7430	3	MUC17	7	100682117	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	2174325	100682117	58456546	20	10585											
EN2	2020	mdanderson.org	37	chr7	155251298	155251298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcgacaacatcctgCggcccgagttcggccggcga	7	8	11	15	6	2	0	1	0	1	0	5	3	3	0	3	3	2	1	3	3	1	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr7:155251298C>T	ENST00000297375.4	+	1	475	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	AC008060.8_ENST00000419225.1_lincRNA	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	76					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAACATCCTGCGGCCCGAGTT	0.746																																					p.R76W													.	.			0			c.C226T												8	6	7					7																	155251298		2009	3919	5928	SO:0001583	missense	2020	exon1			ATCCTGCGGCCCG		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"Homeoboxes / ANTP class : NKL subclass"	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.226C>T	7.37:g.155251298C>T	ENSP00000297375:p.Arg76Trp		39	0	0		30	0.1	3	NM_001427	0		0	A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	37	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080391	0.36662	.	.	ENSG00000164778	ENST00000297375	D	0.96491	-4.03	3.72	1.81	0.25067	.	0.000000	0.64402	D	0.000001	D	0.96015	0.8702	L	0.32530	0.975	0.51482	D	0.999922	D	0.89917	1.0	D	0.77004	0.989	D	0.94791	0.7962	10	0.87932	D	0	-15.9842	11.5638	0.50794	0.4597:0.5403:0.0:0.0	.	76	P19622	HME2_HUMAN	W	76	ENSP00000297375:R76W	ENSP00000297375:R76W	R	+	1	2	EN2	154944059	0.990000	0.36364	0.963000	0.40424	0.042000	0.13812	0.283000	0.18846	0.235000	0.21160	-0.532000	0.04303	CGG			0.746	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322337.1		NM_001427		T	155251298	C	T	155251298	3	4	144	1	0	0	0	0	1	0	0	0	5117	759	27	1	228	1	EN2	7	155251298	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	54569181	155251298	3887365	21	10586											
NPM2	10361	mdanderson.org	37	chr8	21891643	21891643	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcagacctaacctgggagGaggaggaggaagaagaaggg	15	3	17	6	0	1	3	1	0	0	3	1	8	1	8	2	6	1	0	2	6	4	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr8:21891643G>T	ENST00000397940.1	+	6	1403	c.388G>T	c.(388-390)Gag>Tag	p.E130*	NPM2_ENST00000521157.1_Nonsense_Mutation_p.E130*|NPM2_ENST00000381530.5_Intron|NPM2_ENST00000518119.1_Nonsense_Mutation_p.E130*|NPM2_ENST00000520180.1_3'UTR|NPM2_ENST00000289820.6_Nonsense_Mutation_p.E130*|snoU13_ENST00000459495.1_RNA			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	130	Acidic tract A2.|Poly-Glu.				chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AACCTGggaggaggaggagga	0.507																																					p.E130X													.	.			0			c.G388T												72	73	73					8																	21891643		2203	4300	6503	SO:0001587	stop_gained	10361	exon6			TGGGAGGAGGAGG	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.388G>T	8.37:g.21891643G>T	ENSP00000381032:p.Glu130*		54	0	0		41	0.07	3	NM_182795	1	0	0	B3KSU0|D3DSQ8|Q6NVH6	Nonsense_Mutation	SNP	ENST00000397940.1	37	CCDS6018.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205892	0.79127	.	.	ENSG00000158806	ENST00000521157;ENST00000397940;ENST00000522813;ENST00000518119;ENST00000289820	.	.	.	4.76	3.88	0.44766	.	0.069465	0.53938	D	0.000047	.	.	.	.	.	.	0.24520	N	0.994165	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.4837	9.5444	0.39271	0.1:0.0:0.9:0.0	.	.	.	.	X	130	.	ENSP00000289820:E130X	E	+	1	0	NPM2	21947589	0.998000	0.40836	0.007000	0.13788	0.001000	0.01503	4.145000	0.58065	1.319000	0.45190	-0.136000	0.14681	GAG			0.507	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253810.2		NM_182795		T	21891643	G	T	21891643	4	4	144	1	0	0	0	0	0	1	0	0	10605	1175	41	3	406	3	NPM2	8	21891643	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		21891643	124472379	22	10587											
PCMTD1	115294	bcgsc.ca	37	chr8	52733143	52733143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtgttaattctctgtttaActctctttcttttccttttg	6	23	4	8	0	3	0	0	0	3	0	6	0	4	0	1	0	1	2	1	0	3	9	rs111785933		TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr8:52733143A>G	ENST00000360540.5	-	7	1248	c.842T>C	c.(841-843)gTt>gCt	p.V281A	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.V281A|PCMTD1_ENST00000544451.1_Missense_Mutation_p.V205A	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	281						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTCTGTTTAACTCTCTTTCT	0.393																																					p.V281A													.	PCMTD1	73		0			c.T842C												172	174	174					8																	52733143		2203	4300	6503	SO:0001583	missense	115294	exon6			TGTTTAACTCTCT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.842T>C	8.37:g.52733143A>G	ENSP00000353739:p.Val281Ala		156	0.0192307692	3		158	0.05	8	NM_052937	54	0	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	4.043	0.005592	0.07866	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46063	0.88;0.88;0.88	5.97	4.75	0.60458	.	0.260164	0.36972	N	0.002316	T	0.32556	0.0833	L	0.42245	1.32	0.29355	N	0.865105	B;B;B	0.18863	0.009;0.008;0.031	B;B;B	0.18263	0.015;0.005;0.021	T	0.15780	-1.0425	10	0.15066	T	0.55	-33.7683	11.4736	0.50284	0.6809:0.3191:0.0:0.0	.	151;205;281	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	A	281;205;281	ENSP00000353739:V281A;ENSP00000444026:V205A;ENSP00000428099:V281A	ENSP00000353739:V281A	V	-	2	0	PCMTD1	52895696	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.794000	0.69067	2.281000	0.76405	0.533000	0.62120	GTT			0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377909.2		NM_052937		G	52733143	A	G	52733143	3	3	144	1	0	0	0	0	1	0	0	0	11603	43	2	4	235	4	PCMTD1	8	52733143	Missense_Mutation	SNP	A	TCGA-ZM-AA0E-01A-12D-A435-10	30841500	52733143	93630879	23	10588											
LY6E	4061	ucsc.edu	37	chr8	144103183	144103183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgctgagcctgctgccgGccctgctgcggtttggcccc	1	10	14	16	2	0	1	0	1	0	0	0	1	0	1	5	3	7	5	5	3	0	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr8:144103183G>A	ENST00000520466.1	+	5	776	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	LY6E_ENST00000519546.1_3'UTR|LY6E_ENST00000429120.2_Missense_Mutation_p.A125T|LY6E_ENST00000521182.1_3'UTR|LY6E_ENST00000521003.1_Missense_Mutation_p.A125T|LY6E_ENST00000519611.1_3'UTR|LY6E_ENST00000521699.1_Missense_Mutation_p.A125T|LY6E_ENST00000523847.1_Intron|LY6E_ENST00000517503.1_3'UTR|LY6E_ENST00000292494.6_Missense_Mutation_p.A125T|LY6E_ENST00000522528.1_3'UTR|LY6E_ENST00000522024.1_Missense_Mutation_p.A125T|LY6E_ENST00000522971.1_Missense_Mutation_p.A125T			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	125					adrenal gland development (GO:0030325)|cell surface receptor signaling pathway (GO:0007166)|epinephrine secretion (GO:0048242)|in utero embryonic development (GO:0001701)|norepinephrine metabolic process (GO:0042415)|organ growth (GO:0035265)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCTGCTGCCGGCCCTGCTGCG	0.667																																					p.A125T													.	LY6E	10		0			c.G373A												28	31	30					8																	144103183		2200	4298	6498	SO:0001583	missense	4061	exon4			CTGCCGGCCCTGC	U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932			6727	protein-coding gene	gene with protein product	"retinoic acid induced gene E"	601384				8757598, 8650192	Standard	NM_001127213		Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		ENST00000520466.1:c.373G>A	8.37:g.144103183G>A	ENSP00000428572:p.Ala125Thr		46	0	0		36	0.06	2	NM_002346	137	0.18	24	B2R4X5|D3DWJ2|Q0VDE5	Missense_Mutation	SNP	ENST00000520466.1	37	CCDS6394.1	.	.	.	.	.	.	.	.	.	.	g	6.695	0.496850	0.12762	.	.	ENSG00000160932	ENST00000292494;ENST00000429120;ENST00000521699;ENST00000520466;ENST00000521003;ENST00000522971;ENST00000522024	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	3.49	2.56	0.30785	.	0.598977	0.14973	N	0.287684	T	0.72819	0.3508	L	0.44542	1.39	0.09310	N	1	P	0.37061	0.58	B	0.32090	0.14	T	0.62835	-0.6770	10	0.44086	T	0.13	-9.0173	8.1657	0.31226	0.0:0.0:0.5633:0.4367	.	125	Q16553	LY6E_HUMAN	T	125	ENSP00000292494:A125T;ENSP00000414307:A125T;ENSP00000427915:A125T;ENSP00000428572:A125T;ENSP00000428169:A125T;ENSP00000428159:A125T;ENSP00000428442:A125T	ENSP00000292494:A125T	A	+	1	0	LY6E	144174558	0.735000	0.28153	0.008000	0.14137	0.020000	0.10135	0.214000	0.17541	0.988000	0.38734	0.655000	0.94253	GCC			0.667	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380125.1		NM_001127213		A	144103183	G	A	144103183	3	1	144	1	0	0	0	0	1	0	0	0	9107	1203	42	2	383	2	LY6E	8	144103183	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	91370040	144103183	2260839	24	10589											
GSDMD	79792	mdanderson.org	37	chr8	144643588	144643588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccttccagccacccgCgacaggtgagagccgagagc	10	3	14	14	3	0	2	0	1	0	2	1	7	1	3	5	2	3	0	5	2	0	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr8:144643588C>T	ENST00000526406.1	+	9	1614	c.731C>T	c.(730-732)gCg>gTg	p.A244V	GSDMD_ENST00000533063.1_Missense_Mutation_p.A292V|GSDMD_ENST00000262580.4_Missense_Mutation_p.A244V	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	244					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGCCACCCGCGACAGGTGAG	0.622																																					p.A244V													.	.			0			c.C731T												36	37	37					8																	144643588		2199	4295	6494	SO:0001583	missense	79792	exon9			CACCCGCGACAGG	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.731C>T	8.37:g.144643588C>T	ENSP00000433209:p.Ala244Val		46	0	0		41	0.07	3	NM_001166237	117	0	0	D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536911	0.27475	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580;ENST00000534018	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	3.73	-1.68	0.08212	.	2.264960	0.01535	N	0.018947	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B;B;B	0.26258	0.145;0.145;0.119	B;B;B	0.10450	0.005;0.005;0.004	T	0.09271	-1.0682	10	0.30854	T	0.27	-1.5455	1.0472	0.01572	0.2921:0.3912:0.1399:0.1768	.	244;244;292	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	V	244;292;244;260	ENSP00000433209:A244V;ENSP00000433958:A292V;ENSP00000262580:A244V;ENSP00000436684:A260V	ENSP00000262580:A244V	A	+	2	0	GSDMD	144714731	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.291000	0.08343	-0.348000	0.08286	0.637000	0.83480	GCG			0.622	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382046.3		NM_024736		T	144643588	C	T	144643588	3	4	144	1	0	0	0	0	1	0	0	0	6834	768	27	1	749	1	GSDMD	8	144643588	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	540405	144643588	1720434	25	10590											
CNTLN	54875	mdanderson.org	37	chr9	17135090	17135090	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgttcgcctccctcaccGcacccttcgcccccagcgcg	3	6	9	23	7	1	0	1	0	0	0	4	0	2	0	6	0	1	2	6	0	0	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr9:17135090G>A	ENST00000380647.3	+	1	111	c.27G>A	c.(25-27)ccG>ccA	p.P9P	CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Silent_p.P9P|CNTLN_ENST00000380641.4_Silent_p.P9P|CNTLN_ENST00000262360.5_Silent_p.P9P			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	9					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)		CTCCCTCACCGCACCCTTCGC	0.682																																					p.P9P													.	.			0			c.G27A												9	12	11					9																	17135090		1949	4120	6069	SO:0001819	synonymous_variant	54875	exon1			CTCACCGCACCCT	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.27G>A	9.37:g.17135090G>A			21	0	0		12	0.17	2	NM_017738	0		0	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	CCDS43789.1																																																																																					0.682	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051793.3		NM_017738		A	17135090	G	A	17135090	2	1	144	1	0	0	0	0	0	0	0	1	3641	1074	38	1		1	CNTLN	9	17135090	Silent	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		17135090	124078341	26	10591											
LCN10	414332	mdanderson.org	37	chr9	139635320	139635320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcttgtagttttgggttGcacgccccaggcggaggtag	5	12	16	8	2	1	0	0	0	1	0	1	1	1	1	2	5	1	6	2	5	2	7			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr9:139635320G>A	ENST00000474369.1	-	3	403	c.404C>T	c.(403-405)gCa>gTa	p.A135V	LCN6_ENST00000435202.1_3'UTR|LCN10_ENST00000527229.1_Intron|LCN10_ENST00000497771.1_Missense_Mutation_p.A148V|LCN6_ENST00000480584.1_5'Flank			Q6JVE6	LCN10_HUMAN	lipocalin 10	135					transport (GO:0006810)	extracellular region (GO:0005576)				breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GTTTTGGGTTGCACGCCCCAG	0.607																																					p.A148V													.	.			0			c.C443T												93	80	85					9																	139635320		2203	4300	6503	SO:0001583	missense	414332	exon4			TGGGTTGCACGCC	AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"Lipocalins"	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.404C>T	9.37:g.139635320G>A	ENSP00000420564:p.Ala135Val		41	0	0		34	0.09	3	NM_001001712	2	0	0	A2RUU3|B0QZ79	Missense_Mutation	SNP	ENST00000474369.1	37	CCDS35182.2	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261477	0.23051	.	.	ENSG00000187922	ENST00000497771;ENST00000474369	T;T	0.11821	2.74;2.74	3.56	1.62	0.23740	Calycin-like (1);Calycin (1);	0.509065	0.16327	N	0.219268	T	0.09555	0.0235	.	.	.	0.09310	N	1	P;P	0.46784	0.884;0.884	B;B	0.42282	0.382;0.382	T	0.21280	-1.0250	9	0.30854	T	0.27	.	5.4003	0.16293	0.1233:0.2069:0.6698:0.0	.	135;148	Q6JVE6;Q6JVE6-2	LCN10_HUMAN;.	V	148;135	ENSP00000418491:A148V;ENSP00000420564:A135V	ENSP00000420564:A135V	A	-	2	0	LCN10	138755141	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.359000	0.20233	0.261000	0.21753	0.552000	0.68991	GCA			0.607	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318062.2		NM_001001712		A	139635320	G	A	139635320	3	1	144	1	0	0	0	0	1	0	0	0	8696	1319	46	2	171	2	LCN10	9	139635320	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	122500230	139635320	1578111	27	10592											
CAMK2G	818	mdanderson.org	37	chr10	75585052	75585052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccatggccgtctgcaaGggcgcgggctcttgggctgg	4	8	18	11	3	2	0	0	0	2	0	2	0	2	0	2	6	2	4	2	6	2	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr10:75585052G>T	ENST00000444854.2	-	7	565	c.445C>A	c.(445-447)Ctt>Att	p.L149I	CAMK2G_ENST00000423381.1_Silent_p.P380P|CAMK2G_ENST00000372765.1_Intron|CAMK2G_ENST00000394762.2_Intron|CAMK2G_ENST00000351293.3_Intron|CAMK2G_ENST00000322635.3_Intron|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Silent_p.P348P|CAMK2G_ENST00000305762.7_Silent_p.P359P			Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CCGTCTGCAAGGGCGCGGGCT	0.592																																					p.P369P													.	.			0			c.C1107A												160	131	141					10																	75585052		2203	4300	6503	SO:0001583	missense	818	exon15			CTGCAAGGGCGCG	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000444854.2:c.445C>A	10.37:g.75585052G>T	ENSP00000399680:p.Leu149Ile		83	0	0		42	0.07	3	NM_001204492	1	0	0	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	ENST00000444854.2	37		.	.	.	.	.	.	.	.	.	.	G	13.74	2.327825	0.41197	.	.	ENSG00000148660	ENST00000441192;ENST00000444854	T	0.73789	-0.78	5.99	3.99	0.46301	.	.	.	.	.	T	0.65133	0.2662	.	.	.	0.22342	N	0.999183	.	.	.	.	.	.	T	0.53655	-0.8408	5	.	.	.	.	6.6192	0.22794	0.0897:0.0:0.6597:0.2505	.	.	.	.	I	127;149	ENSP00000399680:L149I	.	L	-	1	0	CAMK2G	75255058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.323000	0.43823	2.840000	0.97914	0.655000	0.94253	CTT			0.592	CAMK2G-204	KNOWN	basic	protein_coding	protein_coding				NM_172169		T	75585052	G	T	75585052	3	4	144	1	0	0	0	0	1	0	0	0	2604	987	35	3	654	3	CAMK2G	10	75585052	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		75585052	59949695	28	10593											
HPS1	3257	bcgsc.ca	37	chr10	100184075	100184075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaccactcactcccaGgaggatccgggctcactttt	8	8	9	16	1	2	0	2	0	0	0	4	2	4	2	4	4	0	1	4	4	0	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr10:100184075G>T	ENST00000325103.6	-	14	1625	c.1392C>A	c.(1390-1392)tcC>tcA	p.S464S	HPS1_ENST00000361490.4_Silent_p.S464S|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	464					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)		CTCACTCCCAGGAGGATCCGG	0.587									Hermansky-Pudlak syndrome																												p.S464S													HPS1,colon,carcinoma,-1,1	HPS1	65	1	0			c.C1392A												56	44	48					10																	100184075		2203	4300	6503	SO:0001819	synonymous_variant	3257	exon14	Familial Cancer Database	HPS, HPS1-8	CTCCCAGGAGGAT	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.1392C>A	10.37:g.100184075G>T			70	0	0		49	0.08	4	NM_000195	28	0	0	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	CCDS7475.1																																																																																					0.587	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049776.1		NM_000195, NM_182637, NM_182638, NM_182639		T	100184075	G	T	100184075	2	4	144	1	0	0	0	0	0	0	0	1	7354	987	35	3		3	HPS1	10	100184075	Silent	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	24599023	100184075	35350672	29	10594											
FGFR2	2263	mdanderson.org	37	chr10	123256223	123256223	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaggcatactcaactatGacatagagaggccctgttga	13	10	10	8	0	1	4	1	2	0	2	1	5	1	4	1	2	2	2	1	2	5	5			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr10:123256223G>T	ENST00000358487.5	-	13	1958	c.1686C>A	c.(1684-1686)gtC>gtA	p.V562V	FGFR2_ENST00000351936.6_Silent_p.V560V|FGFR2_ENST00000346997.2_Silent_p.V560V|FGFR2_ENST00000356226.4_Silent_p.V445V|FGFR2_ENST00000369061.4_Silent_p.V450V|FGFR2_ENST00000478859.1_Silent_p.V334V|FGFR2_ENST00000369059.1_Silent_p.V448V|FGFR2_ENST00000360144.3_Silent_p.V474V|FGFR2_ENST00000369060.4_Silent_p.V446V|FGFR2_ENST00000369056.1_Silent_p.V563V|FGFR2_ENST00000357555.5_Silent_p.V473V|FGFR2_ENST00000457416.2_Silent_p.V563V	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	562	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	ACTCAACTATGACATAGAGAG	0.493		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																												p.V563V				Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.			0			c.C1689A												75	78	77					10																	123256223		2203	4300	6503	SO:0001819	synonymous_variant	2263	exon13	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AACTATGACATAG	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.1686C>A	10.37:g.123256223G>T			84	0	0		75	0.05	4	NM_022970	1	0	0	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	Silent	SNP	ENST00000358487.5	37	CCDS31298.1																																																																																					0.493	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000050715.1		NM_022976, NM_000141		T	123256223	G	T	123256223	2	4	144	1	0	0	0	0	0	0	0	1	5879	1277	45	3		3	FGFR2	10	123256223	Silent	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	23072148	123256223	12278524	30	10595											
CDKN1C	1028	mdanderson.org	37	chr11	2905277	2905277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgctccaccgagcccacgCcaggggcggcgcttggagag	6	5	15	15	4	1	1	0	0	1	1	2	3	2	1	4	4	2	2	4	4	0	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr11:2905277C>A	ENST00000414822.3	-	2	1299	c.908G>T	c.(907-909)gGc>gTc	p.G303V	CDKN1C_ENST00000440480.2_Missense_Mutation_p.G292V|CDKN1C_ENST00000430149.2_Missense_Mutation_p.G303V|CDKN1C_ENST00000313407.6_Missense_Mutation_p.G292V|CDKN1C_ENST00000380725.1_Missense_Mutation_p.A115S	NM_000076.2	NP_000067.1	P49918	CDN1C_HUMAN	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	303					adrenal gland development (GO:0030325)|aging (GO:0007568)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|digestive system development (GO:0055123)|embryonic placenta morphogenesis (GO:0060669)|genetic imprinting (GO:0071514)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|myeloid cell differentiation (GO:0030099)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of kinase activity (GO:0033673)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|skeletal system development (GO:0001501)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGAGCCCACGCCAGGGGCGGC	0.716																																					p.G303V	GBM(111;59 1151 2497 5746 16112 18241 29216)												CDKN1C,NS,carcinoma,0,1	CDKN1C	0	1	0			c.G908T												5	7	6					11																	2905277		2071	4132	6203	SO:0001583	missense	1028	exon2			CCCACGCCAGGGG	D64137	CCDS7738.1, CCDS44519.1	11p15.5	2014-09-17	2004-02-13		ENSG00000129757	ENSG00000129757			1786	protein-coding gene	gene with protein product		600856	"Beckwith-Wiedemann syndrome"	BWCR, BWS		7729684	Standard	NM_000076		Approved	P57, KIP2	uc001lws.4	P49918	OTTHUMG00000010040	ENST00000414822.3:c.908G>T	11.37:g.2905277C>A	ENSP00000413720:p.Gly303Val		71	0	0		30	0.1	3	NM_000076	1	0	0		Missense_Mutation	SNP	ENST00000414822.3	37	CCDS7738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.479|4.479	0.088788|0.088788	0.08583|0.08583	.|.	.|.	ENSG00000129757|ENSG00000129757	ENST00000380725|ENST00000414822;ENST00000440480;ENST00000313407;ENST00000430149	D|D;D;D;D	0.84146|0.94138	-1.81|-3.04;-3.36;-3.36;-3.04	3.63|3.63	-1.54|-1.54	0.08584|0.08584	.|.	.|.	.|.	.|.	.|.	D|D	0.86686|0.86686	0.5992|0.5992	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	B|P	0.25105|0.37594	0.118|0.601	B|B	0.17098|0.34093	0.017|0.175	T|T	0.77197|0.77197	-0.2676|-0.2676	9|9	0.27082|0.72032	T|D	0.32|0.01	.|.	10.3181|10.3181	0.43749|0.43749	0.0:0.4819:0.4083:0.1098|0.0:0.4819:0.4083:0.1098	.|.	115|303	A6NK88|P49918	.|CDN1C_HUMAN	S|V	115|303;292;292;303	ENSP00000370101:A115S|ENSP00000413720:G303V;ENSP00000411257:G292V;ENSP00000321019:G292V;ENSP00000411552:G303V	ENSP00000370101:A115S|ENSP00000321019:G292V	A|G	-|-	1|2	0|0	CDKN1C|CDKN1C	2861853|2861853	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	0.266000|0.266000	0.18534|0.18534	-0.039000|-0.039000	0.13602|0.13602	0.491000|0.491000	0.48974|0.48974	GCG|GGC			0.716	CDKN1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000027774.2		NM_000076		A	2905277	C	A	2905277	3	1	144	1	0	0	0	0	1	0	0	0	3162	739	26	2	46	2	CDKN1C	11	2905277	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10		2905277	132101239	31	10596											
FOLH1	2346	mdanderson.org	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				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)	GCCTATAAGCATATTCTGAAA	0.343																																					p.Y277Y													.	.			0			c.T831C												61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346	exon7			ATAAGCATATTCT	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.831T>C	11.37:g.49204790A>G			159	0	0		153	0.05	7	NM_004476	0		0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																			0.006		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390896.1		NM_004476		G	49204790	A	G	49204790	2	3	144	1	0	0	0	0	0	0	0	1	5992	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-ZM-AA0E-01A-12D-A435-10	46299513	49204790	85801726	32	10597											
TMX2	51075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	57505458	57505458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaattcttttcttccgcttGgatattcgcatgggcctact	7	16	7	11	2	2	0	0	0	2	0	4	1	3	1	2	2	1	2	2	2	3	8			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr11:57505458G>A	ENST00000278422.4	+	3	336	c.324G>A	c.(322-324)ttG>ttA	p.L108L	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	108					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TCTTCCGCTTGGATATTCGCA	0.398																																					p.L108L													.	.			0			c.G324A												157	144	148					11																	57505458		2201	4296	6497	SO:0001819	synonymous_variant	51075	exon3			CCGCTTGGATATT	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.324G>A	11.37:g.57505458G>A			209	0	0		121	0.15	18	NM_015959	1	0	0	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Silent	SNP	ENST00000278422.4	37	CCDS7967.1																																																																																					0.398	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393708.1		NM_015959		A	57505458	G	A	57505458	2	1	144	1	0	0	0	0	0	0	0	1	16290	1339	47	3		3	TMX2	11	57505458	Silent	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	8300668	57505458	77501058	33	10598											
C11orf30	56946	broad.mit.edu	37	chr11	76257194	76257194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagaaatgtagagaGtcctgttcgagtccatccac	13	8	9	11	1	0	2	0	0	0	2	4	4	3	2	3	0	2	3	3	0	3	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr11:76257194G>T	ENST00000529032.1	+	19	3627	c.3627G>T	c.(3625-3627)gaG>gaT	p.E1209D	C11orf30_ENST00000524490.1_Missense_Mutation_p.E1111D|C11orf30_ENST00000525038.1_Missense_Mutation_p.E1210D|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Missense_Mutation_p.E1209D|C11orf30_ENST00000525919.1_Missense_Mutation_p.E1210D|C11orf30_ENST00000533248.1_Missense_Mutation_p.E1118D|C11orf30_ENST00000524767.1_Missense_Mutation_p.E1224D			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1209					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AATGTAGAGAGTCCTGTTCGA	0.527																																					p.E1209D													.	C11orf30	123		0			c.G3627T												87	89	88					11																	76257194		2200	4292	6492	SO:0001583	missense	56946	exon20			TAGAGAGTCCTGT	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3627G>T	11.37:g.76257194G>T	ENSP00000432327:p.Glu1209Asp		151	0	0		122	0.03	4	NM_020193	0		0	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.20|10.20	1.285699|1.285699	0.23478|0.23478	.|.	.|.	ENSG00000158636|ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032|ENST00000531793	.|.	.|.	.|.	6.06|6.06	3.07|3.07	0.35406|0.35406	.|.	0.295989|.	0.34531|.	N|.	0.003897|.	T|T	0.34366|0.34366	0.0895|0.0895	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.22080|.	0.064;0.0;0.001;0.003;0.0;0.003|.	B;B;B;B;B;B|.	0.22753|.	0.041;0.002;0.002;0.003;0.002;0.003|.	T|T	0.05649|0.05649	-1.0872|-1.0872	9|5	0.49607|.	T|.	0.09|.	-3.4235|-3.4235	6.4556|6.4556	0.21928|0.21928	0.2125:0.3628:0.4247:0.0|0.2125:0.3628:0.4247:0.0	.|.	1118;1210;1224;1210;1111;1209|.	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589|.	.;.;.;.;.;EMSY_HUMAN|.	D|I	1111;1209;891;1224;1118;1210;1210;1209|68	.|.	ENSP00000334130:E1209D|.	E|S	+|+	3|2	2|0	C11orf30|C11orf30	75934842|75934842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.966000|0.966000	0.29331|0.29331	0.831000|0.831000	0.34780|0.34780	-0.181000|-0.181000	0.13052|0.13052	GAG|AGT			0.527	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000383288.2		NM_020193		T	76257194	G	T	76257194	3	4	144	1	0	0	0	0	1	0	0	0	1638	1020	36	3	3701	3	C11orf30	11	76257194	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	18751736	76257194	58749322	34	10599											
ODZ4	26011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	78780952	78780952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcggcgtcgcggcgccggGtcagcgagcggtaaggcttc	4	6	18	13	8	1	0	1	0	0	0	4	1	1	0	1	5	2	3	1	5	1	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr11:78780952G>C	ENST00000278550.7	-	5	500	c.38C>G	c.(37-39)aCc>aGc	p.T13S	TENM4_ENST00000533038.1_5'UTR	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	13	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										GCGGCGCCGGGTCAGCGAGCG	0.682																																					p.T13S													.	.			0			c.C38G												32	34	33					11																	78780952		692	1591	2283	SO:0001583	missense	26011	exon5			CGCCGGGTCAGCG	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.38C>G	11.37:g.78780952G>C	ENSP00000278550:p.Thr13Ser		63	0	0		34	0.21	7	NM_001098816	0		0	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699302	0.68501	.	.	ENSG00000149256	ENST00000278550	T	0.38722	1.12	4.54	4.54	0.55810	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	L	0.31926	0.97	0.53688	D	0.999975	D;D	0.71674	0.998;0.979	D;D	0.76071	0.987;0.973	T	0.49194	-0.8965	9	.	.	.	.	17.8567	0.88765	0.0:0.0:1.0:0.0	.	13;13	G3CAT1;Q6N022	.;TEN4_HUMAN	S	13	ENSP00000278550:T13S	.	T	-	2	0	ODZ4	78458600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.525000	0.85131	0.655000	0.94253	ACC			0.682	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391406.2				C	78780952	G	C	78780952	3	2	144	1	0	0	0	0	1	0	0	0	10854	1261	44	5	8391	5	ODZ4	11	78780952	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	2523758	78780952	56225564	35	10600											
PRDM10	56980	mdanderson.org	37	chr11	129788444	129788444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactgaccagcatgccgCgccgccggaagcccatcatg	8	4	13	16	4	1	1	1	1	0	0	1	2	1	2	5	2	3	2	5	2	1	0			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr11:129788444C>T	ENST00000360871.3	-	14	2435	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	PRDM10_ENST00000304538.6_Missense_Mutation_p.R649H|PRDM10_ENST00000358825.5_Missense_Mutation_p.R739H|PRDM10_ENST00000526082.1_Missense_Mutation_p.R653H|PRDM10_ENST00000528746.1_Missense_Mutation_p.R709H|PRDM10_ENST00000423662.2_Missense_Mutation_p.R653H	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	739					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)		CAGCATGCCGCGCCGCCGGAA	0.587																																					p.R739H													.	.			0			c.G2216A												119	114	115					11																	129788444		2201	4297	6498	SO:0001583	missense	56980	exon15			ATGCCGCGCCGCC	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.2204G>A	11.37:g.129788444C>T	ENSP00000354118:p.Arg735His		66	0	0		43	0.07	3	NM_020228	0		0	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409514	0.96072	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.11712	2.78;2.78;2.78;2.76;2.82;2.75;2.85	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	M	0.63843	1.955	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	0.83275	0.991;0.996;0.991;0.996;0.961;0.996	T	0.00733	-1.1589	10	0.56958	D	0.05	-9.529	19.8045	0.96525	0.0:1.0:0.0:0.0	.	649;735;739;653;649;653	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	H	739;649;735;653;709;653;452	ENSP00000351686:R739H;ENSP00000302669:R649H;ENSP00000354118:R735H;ENSP00000398431:R653H;ENSP00000431262:R709H;ENSP00000432237:R653H;ENSP00000435940:R452H	ENSP00000302669:R649H	R	-	2	0	PRDM10	129293654	1.000000	0.71417	0.187000	0.23214	0.963000	0.63663	7.461000	0.80834	2.676000	0.91093	0.655000	0.94253	CGC			0.587	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386076.1		NM_199437		T	129788444	C	T	129788444	3	4	144	1	0	0	0	0	1	0	0	0	12471	768	27	1	1298	1	PRDM10	11	129788444	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	51007492	129788444	5218072	36	10601											
TRAFD1	10906	mdanderson.org	37	chr12	112589913	112589913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacattgtgccctctttcTcccctgggccttcagggaga	8	11	9	13	0	3	1	1	0	2	1	4	2	3	1	4	2	2	0	4	2	2	3			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr12:112589913T>C	ENST00000257604.5	+	10	2205	c.1588T>C	c.(1588-1590)Tcc>Ccc	p.S530P	Y_RNA_ENST00000363265.1_RNA|TRAFD1_ENST00000412615.2_Missense_Mutation_p.S530P	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	530					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						GCCCTCTTTCTCCCCTGGGCC	0.552																																					p.S530P													.	.			0			c.T1588C												86	95	92					12																	112589913		2203	4300	6503	SO:0001583	missense	10906	exon10			TCTTTCTCCCCTG	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.1588T>C	12.37:g.112589913T>C	ENSP00000257604:p.Ser530Pro		71	0	0		38	0.08	3	NM_001143906	13	0	0	A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.476284	0.01035	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.28895	1.59;1.59	6.16	3.39	0.38822	.	0.321128	0.30473	N	0.009558	T	0.05777	0.0151	N	0.00210	-1.845	0.22552	N	0.998992	B	0.02656	0.0	B	0.04013	0.001	T	0.39981	-0.9587	10	0.02654	T	1	-4.6778	8.4145	0.32664	0.0:0.7603:0.0:0.2397	.	530	O14545	TRAD1_HUMAN	P	530	ENSP00000396526:S530P;ENSP00000257604:S530P	ENSP00000257604:S530P	S	+	1	0	TRAFD1	111074296	0.020000	0.18652	0.134000	0.22075	0.082000	0.17680	-0.670000	0.05256	0.493000	0.27837	-0.137000	0.14449	TCC			0.552	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405214.1		NM_006700		C	112589913	T	C	112589913	3	2	144	1	0	0	0	0	1	0	0	0	16471	1551	54	4	1622	4	TRAFD1	12	112589913	Missense_Mutation	SNP	T	TCGA-ZM-AA0E-01A-12D-A435-10		112589913	21261982	37	10602											
NOC4L	79050	mdanderson.org	37	chr12	132632486	132632486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgagcctgccccgccGggagcccaccgtctccagct	4	6	12	19	4	1	1	0	1	1	0	2	2	1	2	8	1	5	1	8	1	0	0			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr12:132632486G>T	ENST00000330579.1	+	6	706	c.665G>T	c.(664-666)cGg>cTg	p.R222L	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	222					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CTGCCCCGCCGGGAGCCCACC	0.692																																					p.R222L													.	.			0			c.G665T												22	23	23					12																	132632486		2192	4294	6486	SO:0001583	missense	79050	exon6			CCCGCCGGGAGCC		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.665G>T	12.37:g.132632486G>T	ENSP00000328854:p.Arg222Leu		62	0	0		41	0.07	3	NM_024078	22	0	0	Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	a	7.964	0.747577	0.15710	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.34275	1.37;1.37	4.78	0.669	0.17918	.	0.257899	0.39341	N	0.001390	T	0.14657	0.0354	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.07309	-1.0779	10	0.29301	T	0.29	-18.6077	4.2733	0.10797	0.5447:0.1688:0.2865:0.0	.	222	Q9BVI4	NOC4L_HUMAN	L	222;189	ENSP00000328854:R222L;ENSP00000438255:R189L	ENSP00000328854:R222L	R	+	2	0	NOC4L	131198439	0.967000	0.33354	0.297000	0.24988	0.126000	0.20510	1.044000	0.30329	-0.094000	0.12374	-0.459000	0.05422	CGG			0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398999.1		NM_024078		T	132632486	G	T	132632486	3	4	144	1	0	0	0	0	1	0	0	0	10532	1116	39	1	687	1	NOC4L	12	132632486	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	20042573	132632486	1219409	38	10603											
RPS6KL1	83694	mdanderson.org	37	chr14	75378050	75378050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgggatgatggtcagccGctccctgctcaccatgtggc	5	10	14	12	1	2	1	2	1	0	0	3	2	3	2	3	3	2	2	3	3	0	0			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr14:75378050G>A	ENST00000555647.1	-	7	852	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R158W|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R189W|RPS6KL1_ENST00000554900.1_5'Flank|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R189W			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ATGGTCAGCCGCTCCCTGCTC	0.617																																					p.R189W													.	.			0			c.C565T												103	91	95					14																	75378050		2203	4300	6503	SO:0001583	missense	83694	exon6			TCAGCCGCTCCCT	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.565C>T	14.37:g.75378050G>A	ENSP00000452027:p.Arg189Trp		79	0	0		40	0.08	3	NM_031464	0		0	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	G	35	5.439982	0.96168	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	5.72	5.72	0.89469	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.234091	0.38492	N	0.001662	T	0.30947	0.0781	M	0.80183	2.485	0.54753	D	0.999988	D;D;D	0.76494	0.998;0.999;0.999	P;P;D	0.69824	0.762;0.857;0.966	T	0.01326	-1.1384	10	0.72032	D	0.01	-30.497	15.4725	0.75449	0.0:0.0:0.8608:0.1392	.	189;189;158	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	W	189;158;189;189	ENSP00000452027:R189W;ENSP00000346644:R158W;ENSP00000450567:R189W;ENSP00000351086:R189W	ENSP00000346644:R158W	R	-	1	2	RPS6KL1	74447803	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.396000	0.73234	2.692000	0.91855	0.561000	0.74099	CGG			0.617	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413732.1				A	75378050	G	A	75378050	3	1	144	1	0	0	0	0	1	0	0	0	13682	1086	38	1	1181	1	RPS6KL1	14	75378050	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		75378050	31971490	39	10604											
DIO2	1734	broad.mit.edu	37	chr14	80669620	80669620	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaattgggggcatcctcAcccaatttcacctgacggta	9	10	10	12	1	2	1	2	1	0	0	3	2	3	2	3	4	0	2	3	4	3	3			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr14:80669620A>C	ENST00000557010.1	-	4	619	c.234T>G	c.(232-234)ggT>ggG	p.G78G	DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Silent_p.G78G|DIO2_ENST00000555750.1_Silent_p.G114G|DIO2_ENST00000438257.4_Silent_p.G78G	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	78					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGGCATCCTCACCCAATTTCA	0.423																																					.													.	DIO2	73		0			.												23	23	23					14																	80669620		1932	4131	6063	SO:0001819	synonymous_variant	1734	.			ATCCTCACCCAAT	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.234T>G	14.37:g.80669620A>C			162	0.1913580247	31		204	0.19	38	.	0		0	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	ENST00000557010.1	37	CCDS45146.1																																																																																					0.423	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding		OTTHUMT00000413428.2				C	80669620	A	C	80669620	2	2	144	1	0	0	0	0	0	0	0	1	4530	146	6	4		4	DIO2	14	80669620	Silent	SNP	A	TCGA-ZM-AA0E-01A-12D-A435-10	5291570	80669620	26679920	40	10605											
CHGA	1113	broad.mit.edu;mdanderson.org	37	chr14	93399135	93399135	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcgggcctgcccctccAggtccgaggctaccccgagg	5	5	15	16	3	0	1	0	1	0	0	2	3	2	1	7	5	2	1	7	5	1	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr14:93399135A>G	ENST00000216492.5	+	7	1509	c.1229A>G	c.(1228-1230)cAg>cGg	p.Q410R	CHGA_ENST00000334654.4_Missense_Mutation_p.Q259R	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	410					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CTGCCCCTCCAGGTCCGAGGC	0.711																																					p.Q410R	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												.	CHGA	32		0			c.A1229G												12	14	13					14																	93399135		2183	4275	6458	SO:0001583	missense	1113	exon7			CCCTCCAGGTCCG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1229A>G	14.37:g.93399135A>G	ENSP00000216492:p.Gln410Arg		85	0	0		77	0.06	5	NM_001275	2	0	0	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	A	0.401	-0.918462	0.02396	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01705	4.68;4.68	4.32	-2.4	0.06583	.	1.106060	0.06935	N	0.811682	T	0.02380	0.0073	L	0.57536	1.79	0.09310	N	1	B;B	0.16603	0.018;0.0	B;B	0.16289	0.015;0.001	T	0.45411	-0.9263	10	0.24483	T	0.36	-3.6738	7.8018	0.29178	0.2438:0.4903:0.266:0.0	.	259;410	G5E968;P10645	.;CMGA_HUMAN	R	410;259	ENSP00000216492:Q410R;ENSP00000334023:Q259R	ENSP00000216492:Q410R	Q	+	2	0	CHGA	92468888	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.886000	0.04157	-1.149000	0.02843	0.459000	0.35465	CAG			0.711	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412411.1		NM_001275		G	93399135	A	G	93399135	3	3	144	1	0	0	0	0	1	0	0	0	3340	188	7	4	1255	4	CHGA	14	93399135	Missense_Mutation	SNP	A	TCGA-ZM-AA0E-01A-12D-A435-10	12729515	93399135	13950405	41	10606											
AHNAK2	113146	broad.mit.edu	37	chr14	105406606	105406606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcactgctggccttttctGtgtcttgaaagctaccccct	5	14	8	14	1	3	1	1	1	2	0	3	1	3	1	3	1	3	2	3	1	2	4			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr14:105406606G>T	ENST00000333244.5	-	7	15301	c.15182C>A	c.(15181-15183)aCa>aAa	p.T5061K	AHNAK2_ENST00000557457.1_Missense_Mutation_p.T59K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5061						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)			GGCCTTTTCTGTGTCTTGAAA	0.557																																					p.T5061K													.	AHNAK2	719		0			c.C15182A												108	114	112					14																	105406606		2052	4189	6241	SO:0001583	missense	113146	exon7			TTTTCTGTGTCTT	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.15182C>A	14.37:g.105406606G>T	ENSP00000353114:p.Thr5061Lys		230	0	0		212	0.03	6	NM_138420	1	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461897	0.26248	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.01838	4.61;5.37	2.49	0.478	0.16789	.	.	.	.	.	T	0.01523	0.0049	L	0.38531	1.155	0.09310	N	1	P	0.38020	0.615	B	0.34779	0.189	T	0.35201	-0.9798	9	0.06365	T	0.9	.	3.2291	0.06742	0.3172:0.2549:0.4279:0.0	.	5061	Q8IVF2	AHNK2_HUMAN	K	59;5061	ENSP00000450998:T59K;ENSP00000353114:T5061K	ENSP00000353114:T5061K	T	-	2	0	AHNAK2	104477651	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.572000	0.05881	-0.033000	0.13736	0.561000	0.74099	ACA			0.557	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420		T	105406606	G	T	105406606	3	4	144	1	0	0	0	0	1	0	0	0	415	1377	48	3	2209	3	AHNAK2	14	105406606	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	12007471	105406606	1942934	42	10607											
DISP2	85455	mdanderson.org	37	chr15	40661845	40661845	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggagccccagctttgacAccagcacagccaccagcaag	11	4	10	16	1	0	1	0	1	0	0	1	2	0	2	5	1	5	3	5	1	1	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr15:40661845A>T	ENST00000267889.3	+	8	3619	c.3532A>T	c.(3532-3534)Acc>Tcc	p.T1178S	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1178					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGCTTTGACACCAGCACAGC	0.662																																					p.T1178S													.	.			0			c.A3532T												69	77	74					15																	40661845		2203	4300	6503	SO:0001583	missense	85455	exon8			TTTGACACCAGCA	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3532A>T	15.37:g.40661845A>T	ENSP00000267889:p.Thr1178Ser		40	0	0		30	0.1	3	NM_033510	0		0	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.094188	0.56075	.	.	ENSG00000140323	ENST00000267889	T	0.11821	2.74	5.5	5.5	0.81552	.	0.155728	0.56097	D	0.000035	T	0.11410	0.0278	N	0.24115	0.695	0.26714	N	0.970919	B	0.29988	0.264	B	0.31101	0.124	T	0.18147	-1.0346	10	0.31617	T	0.26	-27.5825	15.7778	0.78236	1.0:0.0:0.0:0.0	.	1178	A7MBM2	DISP2_HUMAN	S	1178	ENSP00000267889:T1178S	ENSP00000267889:T1178S	T	+	1	0	DISP2	38449137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.969000	0.76092	2.313000	0.78055	0.454000	0.30748	ACC			0.662	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252249.1		NM_033510		T	40661845	A	T	40661845	3	4	144	1	0	0	0	0	1	0	0	0	4545	159	6	5	3562	5	DISP2	15	40661845	Missense_Mutation	SNP	A	TCGA-ZM-AA0E-01A-12D-A435-10		40661845	61869547	43	10608											
PLEKHO2	80301	mdanderson.org	37	chr15	65157774	65157774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacctcagttccatccccGctgctcctcccttggggact	4	10	8	19	1	1	0	1	0	0	0	5	1	5	1	7	2	1	3	7	2	0	2	rs151003394		TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr15:65157774G>A	ENST00000323544.4	+	6	1288	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	387										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTCCATCCCCGCTGCTCCTCC	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		19269	0		0	False		,,,				2504	0				p.R387H													.	.			0			c.G1160A							G	HIS/ARG,HIS/ARG	17,4387	24.3+/-50.5	0,17,2185	67	66	66		1010,1160	5.3	1	15	dbSNP_134	66	0,8598		0,0,4299	yes	missense,missense	PLEKHO2	NM_001195059.1,NM_025201.4	29,29	0,17,6484	AA,AG,GG		0.0,0.386,0.1307	probably-damaging,probably-damaging	337/441,387/491	65157774	17,12985	2202	4299	6501	SO:0001583	missense	80301	exon6			ATCCCCGCTGCTC	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1160G>A	15.37:g.65157774G>A	ENSP00000326706:p.Arg387His		66	0	0		40	0.08	3	NM_025201	29	0	0	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.22	3.334592	0.60853	0.00386	0.0	ENSG00000241839	ENST00000323544	T	0.52754	0.65	5.35	5.35	0.76521	.	0.060012	0.64402	D	0.000012	T	0.59348	0.2187	L	0.34521	1.04	0.47659	D	0.999483	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.62196	-0.6905	10	0.72032	D	0.01	.	16.2526	0.82494	0.0:0.0:1.0:0.0	.	337;387	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	H	387	ENSP00000326706:R387H	ENSP00000326706:R387H	R	+	2	0	PLEKHO2	62944827	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	5.835000	0.69368	2.496000	0.84212	0.561000	0.74099	CGC	0.002		0.647	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256659.1		NM_025201		A	65157774	G	A	65157774	3	1	144	1	0	0	0	0	1	0	0	0	12102	1087	38	1	1182	1	PLEKHO2	15	65157774	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	24495929	65157774	37373618	44	10609											
LMAN1L	79748	mdanderson.org	37	chr15	75108636	75108636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacgggactggggcgccGgggagcccagggcatggtga	6	4	22	9	3	0	2	0	2	0	0	0	4	0	4	2	8	1	1	2	8	0	0	rs3803568	byFrequency	TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr15:75108636G>T	ENST00000309664.5	+	2	453	c.314G>T	c.(313-315)cGg>cTg	p.R105L	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R105L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	105	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.		R -> Q (in dbSNP:rs3803568).			integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGGGCGCCGGGGAGCCCAG	0.677																																					p.R105L													.	.			0			c.G314T												28	30	29					15																	75108636		2196	4296	6492	SO:0001583	missense	79748	exon2			GGCGCCGGGGAGC	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.314G>T	15.37:g.75108636G>T	ENSP00000310431:p.Arg105Leu		43	0	0		34	0.09	3	NM_021819	0		0	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942384	0.34283	.	.	ENSG00000140506	ENST00000309664;ENST00000456603;ENST00000379709	T;T	0.56941	0.43;0.43	5.49	2.3	0.28687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.813563	0.11162	N	0.592908	T	0.20861	0.0502	N	0.01771	-0.73	0.34184	P	0.32874499999999995	B;B;B;B	0.15473	0.002;0.011;0.002;0.013	B;B;B;B	0.13407	0.006;0.005;0.009;0.009	T	0.33369	-0.9871	9	0.09084	T	0.74	.	5.6607	0.17667	0.0957:0.0:0.4834:0.4208	.	33;105;33;105	B4DGW5;Q9HAT1-3;B4DU67;Q9HAT1	.;.;.;LMA1L_HUMAN	L	105;33;105	ENSP00000310431:R105L;ENSP00000369031:R105L	ENSP00000310431:R105L	R	+	2	0	LMAN1L	72895689	0.021000	0.18746	0.983000	0.44433	0.639000	0.38242	-0.077000	0.11394	0.687000	0.31509	0.484000	0.47621	CGG			0.677	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286397.4				T	75108636	G	T	75108636	3	4	144	1	0	0	0	0	1	0	0	0	8852	1116	39	1	320	1	LMAN1L	15	75108636	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	9950862	75108636	27422756	45	10610											
IQGAP1	8826	hgsc.bcm.edu;broad.mit.edu	37	chr15	91037943	91037944	+	Splice_Site	DEL	AG	AG	-																															tgacatgatgtgatttttacAgagtctccaaaaagcctagg																										TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	AG	AG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr15:91037943_91037944delAG	ENST00000268182.5	+	36	4752		c.e36-1		IQGAP1_ENST00000560738.1_Splice_Site	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1						cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGATTTTTACAGAGTCTCCAAA	0.356																																					.													.	IQGAP1	140		0			.																																									SO:0001630	splice_region_variant	8826	.			TTTTACAGAGTCT	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4629-1AG>-	15.37:g.91037945_91037946delAG			189	0	0		162	0.07	12	.	0		0	A7MBM3	Splice_Site	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																					0.356	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313493.1		NM_003870	Intron	-	91037944	AG	-	91037943	8	5	144	1	0	1	0	1	0	0	1	0	7829	202	7	0	4769	0	IQGAP1	15	91037943	Splice_Site	DEL	AG	TCGA-ZM-AA0E-01A-12D-A435-10	15929307	91037943	11493449	46	10611											
ZNF646	9726	mdanderson.org	37	chr16	31087875	31087875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagactggccttttcccctGtaccacctgtggcaaggact	7	10	10	14	1	0	1	0	0	0	1	1	3	1	2	5	3	1	2	5	3	2	3			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr16:31087875G>T	ENST00000394979.2	+	1	653	c.230G>T	c.(229-231)tGt>tTt	p.C77F	ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.C77F|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	77					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						CTTTTCCCCTGTACCACCTGT	0.642																																					p.C77F													.	.			0			c.G230T												94	58	70					16																	31087875		2197	4300	6497	SO:0001583	missense	9726	exon2			TCCCCTGTACCAC	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.230G>T	16.37:g.31087875G>T	ENSP00000378429:p.Cys77Phe		82	0	0		50	0.06	3	NM_014699	2	0	0	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.105951	0.77096	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	D;D;D	0.99974	-10.2;-10.2;-10.2	5.9	5.9	0.94986	.	.	.	.	.	D	0.99975	0.9992	M	0.86097	2.795	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.95816	0.8845	9	0.87932	D	0	-3.3593	19.0437	0.93011	0.0:0.0:1.0:0.0	.	77	O15015-2	.	F	77	ENSP00000391271:C77F;ENSP00000300850:C77F;ENSP00000378429:C77F	ENSP00000300850:C77F	C	+	2	0	ZNF646	30995376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.500000	0.97977	2.793000	0.96121	0.563000	0.77884	TGT			0.642	ZNF646-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000108510.2		NM_014699		T	31087875	G	T	31087875	3	4	144	1	0	0	0	0	1	0	0	0	18085	1377	48	3	232	3	ZNF646	16	31087875	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		31087875	59266878	47	10612											
TNFSF12	8742	mdanderson.org	37	chr17	7460571	7460571	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctggtctgttggccctGcggccagggtcctccctgcg	1	11	15	14	2	2	0	0	0	2	0	4	0	4	0	4	4	2	1	4	4	0	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr17:7460571G>T	ENST00000293825.6	+	7	917	c.654G>T	c.(652-654)ctG>ctT	p.L218L	TNFSF13_ENST00000396542.1_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF12_ENST00000557233.1_Intron|TNFSF12_ENST00000462811.1_3'UTR|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000380535.4_5'Flank|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000396545.4_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	218					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				TGTTGGCCCTGCGGCCAGGGT	0.677																																					p.L218L													.	.			0			c.G654T												50	45	47					17																	7460571		2203	4299	6502	SO:0001819	synonymous_variant	8742	exon7			GGCCCTGCGGCCA	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.654G>T	17.37:g.7460571G>T			65	0	0		45	0.07	3	NM_003809	56	0	0	Q8IZK7|Q8WUZ7	Silent	SNP	ENST00000293825.6	37	CCDS11109.1																																																																																					0.677	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226951.2		NM_003809		T	7460571	G	T	7460571	2	4	144	1	0	0	0	0	0	0	0	1	16326	1306	46	2		2	TNFSF12	17	7460571	Silent	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		7460571	73734639	48	10613											
TEKT3	64518	broad.mit.edu	37	chr17	15217536	15217536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccagctcatgctgggacGctctgttggctctgcaatac	6	13	10	12	1	3	0	1	0	2	0	4	1	4	1	1	2	4	6	1	2	2	3	rs143711449		TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr17:15217536G>T	ENST00000395930.1	-	6	932	c.746C>A	c.(745-747)gCg>gAg	p.A249E	RNU6-799P_ENST00000363567.1_RNA|TEKT3_ENST00000338696.2_Missense_Mutation_p.A249E	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	249					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ATGCTGGGACGCTCTGTTGGC	0.547																																					p.A249E													TEKT3,NS,adenocarcinoma,+1,1	TEKT3	64	1	0			c.C746A												164	105	125					17																	15217536		2203	4300	6503	SO:0001583	missense	64518	exon6			TGGGACGCTCTGT	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.746C>A	17.37:g.15217536G>T	ENSP00000379263:p.Ala249Glu		115	0	0		98	0.05	5	NM_031898	0		0	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752704	0.49362	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02301	4.35;4.35;4.35	5.43	5.43	0.79202	.	0.092996	0.64402	D	0.000001	T	0.03871	0.0109	L	0.35288	1.05	0.45791	D	0.998677	B	0.25235	0.121	B	0.37833	0.259	T	0.58255	-0.7668	10	0.30078	T	0.28	-13.9888	15.5813	0.76445	0.0:0.0:0.8618:0.1382	.	249	Q9BXF9	TEKT3_HUMAN	E	249;249;83	ENSP00000379263:A249E;ENSP00000343995:A249E;ENSP00000443280:A83E	ENSP00000343995:A249E	A	-	2	0	TEKT3	15158261	1.000000	0.71417	0.947000	0.38551	0.750000	0.42670	3.759000	0.55227	2.549000	0.85964	0.655000	0.94253	GCG			0.547	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130385.2		NM_031898		T	15217536	G	T	15217536	3	4	144	1	0	0	0	0	1	0	0	0	15777	1087	38	1	742	1	TEKT3	17	15217536	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	7756965	15217536	65977674	49	10614											
FMNL1	752	mdanderson.org	37	chr17	43321261	43321261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgctttgagcgggagcagCggccaatggaggagctgtca	8	6	16	11	3	1	1	1	1	0	0	1	4	1	4	2	4	4	3	2	4	1	1	rs371426654		TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr17:43321261C>T	ENST00000331495.3	+	18	2653	c.2317C>T	c.(2317-2319)Cgg>Tgg	p.R773W	CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.R351W|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.R773W	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	773	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGGGAGCAGCGGCCAATGGA	0.637																																					p.R773W	GBM(164;1247 1997 8702 11086 51972)												.	.			0			c.C2317T							C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	58	58	58		2317	1.9	1	17		58	0,8600		0,0,4300	no	missense	FMNL1	NM_005892.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	773/1101	43321261	1,13005	2203	4300	6503	SO:0001583	missense	752	exon18			GAGCAGCGGCCAA	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.2317C>T	17.37:g.43321261C>T	ENSP00000329219:p.Arg773Trp		56	0	0		46	0.07	3	NM_005892	42	0	0	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886197	0.51908	2.27E-4	0.0	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.63913	-0.07;-0.07	4.19	1.94	0.25998	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.189522	0.41194	D	0.000922	T	0.75715	0.3887	M	0.79475	2.455	0.44295	D	0.997166	D	0.89917	1.0	D	0.74348	0.983	T	0.78378	-0.2227	10	0.87932	D	0	.	10.9357	0.47243	0.4418:0.5582:0.0:0.0	.	773	O95466	FMNL_HUMAN	W	773;773;428	ENSP00000327442:R773W;ENSP00000329219:R773W	ENSP00000327442:R773W	R	+	1	2	FMNL1	40677044	0.090000	0.21635	0.998000	0.56505	0.456000	0.32438	-0.169000	0.09911	1.065000	0.40693	0.462000	0.41574	CGG			0.637	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450198.1		NM_005892		T	43321261	C	T	43321261	3	4	144	1	0	0	0	0	1	0	0	0	5964	759	27	1	2387	1	FMNL1	17	43321261	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	28103725	43321261	37873949	50	10615											
UBE2Z	65264	mdanderson.org	37	chr17	46985927	46985927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcggcgggccccggggCgagcagcgttgctggtgttg	2	6	22	11	6	0	0	0	0	0	0	0	1	0	0	2	7	3	4	2	7	0	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr17:46985927C>T	ENST00000360943.5	+	1	197	c.62C>T	c.(61-63)gCg>gTg	p.A21V	RP11-463M16.4_ENST00000508743.1_RNA	NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	21					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)										ggccccggggcgagcagcgtt	0.761																																					p.A21V													.	.			0			c.C62T												1	3	2					17																	46985927		805	1798	2603	SO:0001583	missense	65264	exon1			CCGGGGCGAGCAG	BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"Ubiquitin-conjugating enzymes E2"	25847	protein-coding gene	gene with protein product	"UBA6-specific enzyme E2"	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.62C>T	17.37:g.46985927C>T	ENSP00000354201:p.Ala21Val		16	0	0		16	0.13	2	NM_023079	2	0	0	A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	ENST00000360943.5	37	CCDS11540.2	.	.	.	.	.	.	.	.	.	.	c	15.51	2.855386	0.51376	.	.	ENSG00000159202	ENST00000360943;ENST00000508468	T	0.74002	-0.8	1.76	1.76	0.24704	.	.	.	.	.	T	0.51210	0.1661	N	0.19112	0.55	0.24389	N	0.994753	B	0.28801	0.223	B	0.11329	0.006	T	0.31052	-0.9957	9	0.07325	T	0.83	.	9.0348	0.36280	0.0:1.0:0.0:0.0	.	21	Q9H832	UBE2Z_HUMAN	V	21	ENSP00000354201:A21V	ENSP00000354201:A21V	A	+	2	0	UBE2Z	44340926	0.996000	0.38824	0.940000	0.37924	0.573000	0.36030	1.503000	0.35715	1.327000	0.45338	0.282000	0.19409	GCG			0.761	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318724.2		NM_023079		T	46985927	C	T	46985927	3	4	144	1	0	0	0	0	1	0	0	0	16902	768	27	1	64	1	UBE2Z	17	46985927	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	3664666	46985927	34209283	51	10616											
SMCHD1	23347	mdanderson.org	37	chr18	2705754	2705754	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagattttttctttatggCgatcatgatggagaagtata	12	16	10	3	1	2	3	1	1	1	2	2	5	2	3	0	2	0	2	0	2	5	8			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr18:2705754C>T	ENST00000320876.6	+	14	2243	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.G635G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	635					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						TTCTTTATGGCGATCATGATG	0.323																																					p.G635G													SMCHD1,NS,carcinoma,0,3	SMCHD1	0	3	0			c.C1905T												78	76	77					18																	2705754		1850	4079	5929	SO:0001819	synonymous_variant	23347	exon14			TTATGGCGATCAT	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.1905C>T	18.37:g.2705754C>T			49	0.0204081633	1		49	0.06	3	NM_015295	2	0	0	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	CCDS45822.1																																																																																					0.323	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441082.2				T	2705754	C	T	2705754	2	4	144	1	0	0	0	0	0	0	0	1	14811	755	27	1		1	SMCHD1	18	2705754	Silent	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10		2705754	75371494	52	10617											
INO80C	125476	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr18	33060445	33060445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatccttaaatggcaaaGgtttggcagctttttccaca	10	13	10	8	0	0	0	0	0	0	0	2	1	2	1	2	4	1	4	2	4	3	4			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr18:33060445G>T	ENST00000334598.7	-	2	355	c.239C>A	c.(238-240)cCt>cAt	p.P80H	RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000441607.2_Missense_Mutation_p.P116H|INO80C_ENST00000590757.1_Intron|INO80C_ENST00000586489.1_Missense_Mutation_p.P25H|INO80C_ENST00000592173.1_Missense_Mutation_p.P80H	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	80					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						AAATGGCAAAGGTTTGGCAGC	0.433																																					p.P116H													.	INO80C	18		0			c.C347A												172	157	162					18																	33060445		2203	4300	6503	SO:0001583	missense	125476	exon4			GGCAAAGGTTTGG		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"INO80 complex subunits"	26994	protein-coding gene	gene with protein product	"IES6 homolog (S. cerevisiae)"		"chromosome 18 open reading frame 37"	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.239C>A	18.37:g.33060445G>T	ENSP00000334473:p.Pro80His		126	0	0		107	0.06	6	NM_001098817	23	0	0	B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	ENST00000334598.7	37	CCDS11914.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116733	0.77323	.	.	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	6.02	6.02	0.97574	.	0.125407	0.56097	D	0.000040	T	0.69940	0.3167	L	0.46157	1.445	0.41265	D	0.986803	D;D;D	0.89917	0.999;0.997;1.0	D;P;D	0.69479	0.921;0.846;0.964	T	0.70945	-0.4734	9	0.72032	D	0.01	.	16.0374	0.80640	0.0:0.0:1.0:0.0	.	116;80;80	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	H	80;116;80	.	ENSP00000283410:P80H	P	-	2	0	INO80C	31314443	1.000000	0.71417	0.961000	0.40146	0.932000	0.56968	5.028000	0.64115	2.857000	0.98124	0.650000	0.86243	CCT			0.433	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255768.1		NM_194281		T	33060445	G	T	33060445	3	4	144	1	0	0	0	0	1	0	0	0	7763	1000	35	3	355	3	INO80C	18	33060445	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	30354691	33060445	45016803	53	10618											
DNMT1	1786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	10291231	10291231	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaaaagggatttgactttAgccaggtagccctcctacag	11	12	9	9	0	0	1	0	1	0	0	1	2	1	2	3	2	3	1	3	2	5	7			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr19:10291231A>G	ENST00000340748.4	-	4	475	c.240T>C	c.(238-240)gcT>gcC	p.A80A	DNMT1_ENST00000359526.4_Silent_p.A80A|DNMT1_ENST00000540357.1_Silent_p.A80A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	80	DMAP-interaction.|Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				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)	ATTTGACTTTAGCCAGGTAGC	0.418																																					p.A80A													.	.			0			c.T240C												90	93	92					19																	10291231		2203	4300	6503	SO:0001819	synonymous_variant	1786	exon4			GACTTTAGCCAGG	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.240T>C	19.37:g.10291231A>G			90	0	0		61	0.13	8	NM_001130823	0		0	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	CCDS12228.1																																																																																					0.418	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451166.1		NM_001379		G	10291231	A	G	10291231	2	3	144	1	0	0	0	0	0	0	0	1	4680	407	15	4		4	DNMT1	19	10291231	Silent	SNP	A	TCGA-ZM-AA0E-01A-12D-A435-10		10291231	48837752	54	10619											
SMARCA4	6597	mdanderson.org	37	chr19	11097625	11097625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccaggaccctcgggcgtgCcccccgggatgccaggccag	5	3	14	19	3	0	0	0	0	0	0	1	2	0	2	8	4	2	0	8	4	0	0			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr19:11097625C>T	ENST00000429416.3	+	6	1086	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	SMARCA4_ENST00000444061.3_Missense_Mutation_p.P269S|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P269S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P269S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P269S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P269S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P269S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P269S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P269S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	269	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				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.P270fs*16(1)|p.M272fs*31(1)|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)				CTCGGGCGTGCCCCCCGGGAT	0.632			"F, N, Mis"		NSCLC																																p.P269S				Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	.	.			3	Deletion - Frameshift(2)|Unknown(1)	lung(3)	c.C805T												44	47	46					19																	11097625		2203	4299	6502	SO:0001583	missense	6597	exon5			GGCGTGCCCCCCG	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.805C>T	19.37:g.11097625C>T	ENSP00000395654:p.Pro269Ser		20	0	0		15	0.13	2	NM_003072	0		0	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.901060	0.72754	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	L	0.40543	1.245	0.54753	D	0.999986	P;P;P;D;P;P;P	0.63880	0.516;0.516;0.516;0.993;0.516;0.759;0.516	B;B;B;D;B;B;B	0.70227	0.245;0.245;0.245;0.968;0.245;0.245;0.245	D	0.88742	0.3244	10	0.35671	T	0.21	-29.135	15.5536	0.76173	0.0:1.0:0.0:0.0	.	269;269;269;269;269;269;269	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	S	269	ENSP00000395654:P269S;ENSP00000350720:P269S;ENSP00000343896:P269S;ENSP00000445036:P269S;ENSP00000392837:P269S;ENSP00000397783:P269S;ENSP00000414727:P269S	ENSP00000343896:P269S	P	+	1	0	SMARCA4	10958625	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.750000	0.55157	2.195000	0.70347	0.462000	0.41574	CCC			0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000452638.2		NM_003072		T	11097625	C	T	11097625	3	4	144	1	0	0	0	0	1	0	0	0	14793	739	26	2	819	2	SMARCA4	19	11097625	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	806394	11097625	48031358	55	10620											
INSL3	3640	mdanderson.org	37	chr19	17927833	17927833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggccaccagcccatggaGcagatgtcgtctctccagcc	7	7	11	16	2	1	1	0	0	1	1	5	2	2	2	5	2	3	1	5	2	0	0			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr19:17927833G>T	ENST00000317306.7	-	2	242	c.226C>A	c.(226-228)Ctc>Atc	p.L76I	INSL3_ENST00000379695.5_Nonsense_Mutation_p.C107*	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	76					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|in utero embryonic development (GO:0001701)|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)|positive regulation of cell proliferation (GO:0008284)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)	insulin receptor binding (GO:0005158)|protease binding (GO:0002020)|receptor binding (GO:0005102)			breast(1)|lung(1)	2						AGCCCATGGAGCAGATGTCGT	0.612																																					p.C107X													.	.			0			c.C321A												72	56	61					19																	17927833		2203	4300	6503	SO:0001583	missense	3640	exon3			CATGGAGCAGATG		CCDS12365.1, CCDS58655.1	19p13.2-p12	2013-02-26	2003-05-13			ENSG00000248099		"Endogenous ligands"	6086	protein-coding gene	gene with protein product	"prepro-INSL3"	146738	"relaxin-like factor"	RLNL		8020942	Standard	NM_001265587		Approved	RLF, MGC119818, MGC119819	uc010ebf.2	P51460		ENST00000317306.7:c.226C>A	19.37:g.17927833G>T	ENSP00000321724:p.Leu76Ile		48	0	0		34	0.09	3	NM_001265587	8	0	0	B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Nonsense_Mutation	SNP	ENST00000317306.7	37	CCDS12365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.02|10.02	1.235430|1.235430	0.22626|0.22626	.|.	.|.	ENSG00000248099|ENSG00000248099	ENST00000379695|ENST00000317306	.|T	.|0.69561	.|-0.41	3.73|3.73	2.69|2.69	0.31865|0.31865	.|Insulin-like (3);	5.026540|.	0.02089|.	N|.	0.053016|.	.|T	.|0.66636	.|0.2809	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999995|0.999995	.|P	.|0.43352	.|0.804	.|P	.|0.50136	.|0.632	.|T	.|0.65100	.|-0.6250	.|9	0.45353|0.56958	T|D	0.12|0.05	.|.	6.9744|6.9744	0.24666|0.24666	0.128:0.0:0.872:0.0|0.128:0.0:0.872:0.0	.|.	.|76	.|P51460	.|INSL3_HUMAN	X|I	107|76	.|ENSP00000321724:L76I	ENSP00000369017:C107X|ENSP00000321724:L76I	C|L	-|-	3|1	2|0	INSL3|INSL3	17788833|17788833	0.941000|0.941000	0.31946|0.31946	0.170000|0.170000	0.22879|0.22879	0.020000|0.020000	0.10135|0.10135	0.338000|0.338000	0.19858|0.19858	0.806000|0.806000	0.34183|0.34183	0.449000|0.449000	0.29647|0.29647	TGC|CTC			0.612	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466836.1		NM_005543		T	17927833	G	T	17927833	3	4	144	1	0	0	0	0	1	0	0	0	7782	971	34	2	173	2	INSL3	19	17927833	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	6830208	17927833	41201150	56	10621											
CPT1C	126129	mdanderson.org	37	chr19	50215119	50215119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggacaagcaccaggctctGctgaaggcagccatgagcgg	10	5	15	11	1	1	2	0	2	1	0	1	3	1	3	2	4	4	4	2	4	2	0	rs375017702		TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr19:50215119G>A	ENST00000392518.4	+	17	2292	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L	CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000323446.5_Silent_p.L640L|CPT1C_ENST00000598293.1_Silent_p.L640L|CPT1C_ENST00000405931.2_Silent_p.L629L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	640					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)		ACCAGGCTCTGCTGAAGGCAG	0.627																																					p.L640L													.	.			0			c.G1920A												95	79	85					19																	50215119		2203	4300	6503	SO:0001819	synonymous_variant	126129	exon17			GGCTCTGCTGAAG	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.1920G>A	19.37:g.50215119G>A			69	0	0		31	0.1	3	NM_001199752	4	0	0	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	CCDS12779.1																																																																																					0.627	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465873.1		NM_152359		A	50215119	G	A	50215119	2	1	144	1	0	0	0	0	0	0	0	1	3835	1306	46	2		2	CPT1C	19	50215119	Silent	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	32287286	50215119	8913864	57	10622											
CLEC11A	6320	broad.mit.edu;mdanderson.org	37	chr19	51227265	51227265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaggaggaccagggggAggaagaggaggaggaagcaa	15	1	22	3	0	0	1	0	0	0	1	0	10	0	9	1	9	1	1	1	9	3	0			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr19:51227265A>G	ENST00000250340.4	+	2	448	c.251A>G	c.(250-252)gAg>gGg	p.E84G	CLEC11A_ENST00000599973.1_Missense_Mutation_p.E84G	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	84					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		gaccagggggaggaagaggag	0.617											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E84G													.	CLEC11A	23		0			c.A251G												42	46	45					19																	51227265		2203	4300	6503	SO:0001583	missense	6320	exon2			AGGGGGAGGAAGA	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.251A>G	19.37:g.51227265A>G	ENSP00000250340:p.Glu84Gly		119	0	0	975	89	0.06	5	NM_002975	2	0	0	B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	37	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.685735	0.29962	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.51071	0.72	3.78	2.76	0.32466	.	1.255300	0.05554	N	0.568047	T	0.27134	0.0665	N	0.08118	0	0.09310	N	1	B	0.26635	0.155	B	0.21360	0.034	T	0.20806	-1.0264	10	0.33141	T	0.24	-4.4817	5.5834	0.17262	0.8723:0.0:0.1277:0.0	.	84	Q9Y240	CLC11_HUMAN	G	84	ENSP00000250340:E84G	ENSP00000250340:E84G	E	+	2	0	CLEC11A	55919077	1.000000	0.71417	0.039000	0.18376	0.285000	0.27093	2.023000	0.41040	0.649000	0.30751	0.379000	0.24179	GAG			0.617	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464062.1		NM_002975		G	51227265	A	G	51227265	3	3	144	1	0	0	0	0	1	0	0	0	3498	304	11	4	257	4	CLEC11A	19	51227265	Missense_Mutation	SNP	A	TCGA-ZM-AA0E-01A-12D-A435-10	1012146	51227265	7901718	58	10623											
IL11	3589	mdanderson.org	37	chr19	55879667	55879667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcagggaagagccacctgCccggcgcagccactgcacgt	8	5	12	16	3	1	1	1	0	0	1	1	2	1	2	4	2	4	2	4	2	1	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr19:55879667C>A	ENST00000264563.2	-	4	402	c.340G>T	c.(340-342)Gca>Tca	p.A114S	IL11_ENST00000590625.1_Missense_Mutation_p.A35S|IL11_ENST00000585513.1_Missense_Mutation_p.A114S	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	114					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)		GAGCCACCTGCCCGGCGCAGC	0.677																																					p.A114S													.	.			0			c.G340T												13	15	14					19																	55879667		2185	4281	6466	SO:0001583	missense	3589	exon4			CACCTGCCCGGCG	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.340G>T	19.37:g.55879667C>A	ENSP00000264563:p.Ala114Ser		68	0	0		36	0.08	3	NM_000641	0		0	B4DQV5|Q96EB4	Missense_Mutation	SNP	ENST00000264563.2	37	CCDS12923.1	.	.	.	.	.	.	.	.	.	.	c	8.408	0.843546	0.16963	.	.	ENSG00000095752	ENST00000264563	T	0.38560	1.13	4.0	1.76	0.24704	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.226029	0.36555	N	0.002524	T	0.21227	0.0511	N	0.19112	0.55	0.09310	N	1	B	0.15930	0.015	B	0.15484	0.013	T	0.21793	-1.0235	10	0.10111	T	0.7	-28.8478	6.9079	0.24319	0.172:0.7314:0.0:0.0966	.	114	P20809	IL11_HUMAN	S	114	ENSP00000264563:A114S	ENSP00000264563:A114S	A	-	1	0	IL11	60571479	0.001000	0.12720	0.073000	0.20177	0.045000	0.14185	0.199000	0.17237	0.451000	0.26802	0.650000	0.86243	GCA			0.677	IL11-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453027.1		NM_000641		A	55879667	C	A	55879667	3	1	144	1	0	0	0	0	1	0	0	0	7637	739	26	2	267	2	IL11	19	55879667	Missense_Mutation	SNP	C	TCGA-ZM-AA0E-01A-12D-A435-10	4652402	55879667	3249316	59	10624											
RPS5	6193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	58904766	58904766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacgccatcatcaacagtgGtccccgggaggactccacac	11	5	10	15	2	2	0	2	0	0	0	4	3	4	2	4	3	2	0	4	3	2	0			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr19:58904766G>T	ENST00000596046.1	+	3	1208	c.359G>T	c.(358-360)gGt>gTt	p.G120V	RPS5_ENST00000598495.1_Missense_Mutation_p.G141V|RPS5_ENST00000196551.3_Missense_Mutation_p.G120V|RPS5_ENST00000598098.1_Missense_Mutation_p.G50V|RPS5_ENST00000601521.1_Missense_Mutation_p.G120V|AC012313.1_ENST00000601382.1_5'Flank			P46782	RS5_HUMAN	ribosomal protein S5	120					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)|regulation of translational fidelity (GO:0006450)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		ATCAACAGTGGTCCCCGGGAG	0.622																																					p.G120V													.	.			0			c.G359T												107	88	95					19																	58904766		2203	4300	6503	SO:0001583	missense	6193	exon4			ACAGTGGTCCCCG	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.359G>T	19.37:g.58904766G>T	ENSP00000472985:p.Gly120Val		51	0	0		33	0.24	8	NM_001009	1930	0.29	568	B2R4T2|Q96BN0	Missense_Mutation	SNP	ENST00000596046.1	37	CCDS12978.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495169	0.64186	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.78	4.78	0.61160	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91805	0.5455	9	0.87932	D	0	-25.5175	15.6905	0.77446	0.0:0.0:1.0:0.0	.	120	P46782	RS5_HUMAN	V	120	.	ENSP00000196551:G120V	G	+	2	0	RPS5	63596578	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.383000	0.90157	2.389000	0.81357	0.655000	0.94253	GGT			0.622	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467016.1		NM_001009		T	58904766	G	T	58904766	3	4	144	1	0	0	0	0	1	0	0	0	13671	1261	44	3	369	3	RPS5	19	58904766	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	3025099	58904766	224217	60	10625											
VSTM2L	128434	mdanderson.org	37	chr20	36560151	36560151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctggagatccagtggtGgtatgtacggagccaccggg	7	8	16	10	3	0	1	0	0	0	1	2	3	1	2	3	5	2	3	3	5	2	2			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr20:36560151G>T	ENST00000373461.4	+	2	483	c.236G>T	c.(235-237)tGg>tTg	p.W79L	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.W79L	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	79	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				ATCCAGTGGTGGTATGTACGG	0.657																																					p.W79L													VSTM2L,NS,carcinoma,0,1	VSTM2L	0	1	0			c.G236T												88	75	80					20																	36560151		2203	4300	6503	SO:0001583	missense	128434	exon2			AGTGGTGGTATGT	AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"Immunoglobulin superfamily / V-set domain containing"	16096	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 102"	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.236G>T	20.37:g.36560151G>T	ENSP00000362560:p.Trp79Leu		44	0	0		26	0.12	3	NM_080607	0		0	E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163013	0.78226	.	.	ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944	T;T;T	0.63096	1.84;-0.02;1.84	4.66	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058540	0.64402	D	0.000001	T	0.79713	0.4493	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.80353	-0.1418	10	0.39692	T	0.17	-22.0236	16.8866	0.86077	0.0:0.0:1.0:0.0	.	79	Q96N03	VTM2L_HUMAN	L	79	ENSP00000362557:W79L;ENSP00000362560:W79L;ENSP00000406537:W79L	ENSP00000362557:W79L	W	+	2	0	VSTM2L	35993565	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.564000	0.98151	2.294000	0.77228	0.484000	0.47621	TGG			0.657	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079133.1				T	36560151	G	T	36560151	3	4	144	1	0	0	0	0	1	0	0	0	17254	1357	47	3	242	3	VSTM2L	20	36560151	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		36560151	26465369	61	10626											
WISP2	8839	mdanderson.org	37	chr20	43348565	43348565	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgtgcccgacaccaTgtacctgcccctggccacct	6	7	8	20	1	0	0	0	0	0	0	0	1	0	0	8	1	4	2	8	1	1	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr20:43348565T>A	ENST00000372868.2	+	3	431	c.88T>A	c.(88-90)Tgt>Agt	p.C30S	WISP2_ENST00000372865.4_Missense_Mutation_p.C30S|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C30S			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	30	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCGACACCATGTACCTGCCC	0.662																																					p.C30S													.	.			0			c.T88A												51	39	43					20																	43348565		2202	4298	6500	SO:0001583	missense	8839	exon2			ACACCATGTACCT	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.88T>A	20.37:g.43348565T>A	ENSP00000361959:p.Cys30Ser		75	0	0		39	0.08	3	NM_003881	0		0	B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269278	0.59540	.	.	ENSG00000064205	ENST00000372868;ENST00000372865;ENST00000190983	D;D;D	0.83163	-1.69;-1.69;-1.69	5.41	5.41	0.78517	Insulin-like growth factor-binding protein, IGFBP (3);	0.000000	0.85682	D	0.000000	D	0.92554	0.7635	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94061	0.7326	10	0.87932	D	0	-20.8964	15.5109	0.75782	0.0:0.0:0.0:1.0	.	30;30	Q6PEG3;O76076	.;WISP2_HUMAN	S	30	ENSP00000361959:C30S;ENSP00000361956:C30S;ENSP00000190983:C30S	ENSP00000190983:C30S	C	+	1	0	WISP2	42781979	1.000000	0.71417	0.053000	0.19242	0.002000	0.02628	6.069000	0.71209	2.057000	0.61298	0.524000	0.50904	TGT			0.662	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127824.1		NM_003881		A	43348565	T	A	43348565	3	1	144	1	0	0	0	0	1	0	0	0	17397	1464	51	5	94	5	WISP2	20	43348565	Missense_Mutation	SNP	T	TCGA-ZM-AA0E-01A-12D-A435-10	6788414	43348565	19676955	62	10627											
ZNF217	7764	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr20	52194891	52194891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgtatgcgttctgagatGaatattgaggtaataatttg	12	15	10	4	1	1	3	0	3	1	1	1	4	1	3	1	1	1	3	1	1	5	7			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr20:52194891G>A	ENST00000371471.2	-	3	1890	c.1465C>T	c.(1465-1467)Cat>Tat	p.H489Y	ZNF217_ENST00000302342.3_Missense_Mutation_p.H489Y			O75362	ZN217_HUMAN	zinc finger protein 217	489					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTTCTGAGATGAATATTGAGG	0.274																																					p.H489Y													.	.			0			c.C1465T												78	76	77					20																	52194891		2200	4295	6495	SO:0001583	missense	7764	exon2			TGAGATGAATATT	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1465C>T	20.37:g.52194891G>A	ENSP00000360526:p.His489Tyr		548	0	0		471	0.08	39	NM_006526	8	0.13	1	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347946	0.82022	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	D;D	0.86769	-2.17;-2.17	5.0	5.0	0.66597	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	0.95683	0.8596	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96986	0.9718	10	0.87932	D	0	-33.4442	18.2919	0.90133	0.0:0.0:1.0:0.0	.	489	O75362	ZN217_HUMAN	Y	489	ENSP00000360526:H489Y;ENSP00000304308:H489Y	ENSP00000304308:H489Y	H	-	1	0	ZNF217	51628298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.232000	0.95325	2.482000	0.83794	0.655000	0.94253	CAT			0.274	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079757.2		NM_006526		A	52194891	G	A	52194891	3	1	144	1	0	0	0	0	1	0	0	0	17795	1290	45	3	1693	3	ZNF217	20	52194891	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	8846326	52194891	10830629	63	10628											
RRP1	8568	ucsc.edu;bcgsc.ca	37	chr21	45222243	45222243	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgaagaagcagaagcgTctgctcaggttgcagcagga	14	5	14	8	2	2	3	1	0	1	3	2	5	2	4	0	2	5	5	0	2	4	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr21:45222243T>A	ENST00000497547.1	+	12	1215	c.1098T>A	c.(1096-1098)cgT>cgA	p.R366R	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					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)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		AGCAGAAGCGTCTGCTCAGGT	0.587																																					p.R366R													.	RRP1	23		0			c.T1098A												93	115	108					21																	45222243		2025	4158	6183	SO:0001819	synonymous_variant	8568	exon12			GAAGCGTCTGCTC	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"DNA segment on chromosome 21 (unique) 2056 expressed sequence", "Nnp1 homolog, nucleolar protein (Drosophila)"	610653	"ribosomal RNA processing 1 homolog (S. cerevisiae)"			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.1098T>A	21.37:g.45222243T>A			80	0	0		42	0.1	4	NM_003683	245	0	0	A6NIB2	Silent	SNP	ENST00000497547.1	37	CCDS42951.1																																																																																					0.587	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195680.1		NM_003683		A	45222243	T	A	45222243	2	1	144	1	0	0	0	0	0	0	0	1	13708	1654	58	5		5	RRP1	21	45222243	Silent	SNP	T	TCGA-ZM-AA0E-01A-12D-A435-10		45222243	2907652	64	10629											
KRTAP10-10	353333	mdanderson.org	37	chr21	46058034	46058034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctcctctgccgccccGtgtgctcccgccctgcctgc	0	11	8	22	3	1	0	0	0	1	0	4	0	4	0	8	0	4	1	8	0	0	1	rs142158982	byFrequency	TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr21:46058034G>A	ENST00000380095.1	+	1	762	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	234						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCGCCCCGTGTGCTCCCG	0.692																																					p.V234M													.	.			0			c.G700A							G	,MET/VAL	54,4352		0,54,2149	54	58	57		,700	-2.9	0	21	dbSNP_134	57	16,8582		0,16,4283	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	0,70,6432	AA,AG,GG		0.1861,1.2256,0.5383	,possibly-damaging	,234/252	46058034	70,12934	2203	4299	6502	SO:0001583	missense	353333	exon1			CGCCCCGTGTGCT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.700G>A	21.37:g.46058034G>A	ENSP00000369438:p.Val234Met		85	0	0		62	0.06	4	NM_181688	0		0		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	94	0.04304029304029304	28	0.056910569105691054	7	0.019337016574585635	29	0.050699300699300696	30	0.0395778364116095	g	0.883	-0.728095	0.03135	0.012256	0.001861	ENSG00000221859	ENST00000380095	T	0.01215	5.16	3.52	-2.88	0.05682	.	.	.	.	.	T	0.00241	0.0007	M	0.71206	2.165	0.09310	N	1	B	0.20459	0.045	B	0.20955	0.032	T	0.38178	-0.9673	9	0.42905	T	0.14	.	5.1831	0.15171	0.3582:0.0:0.4952:0.1466	.	234	P60014	KR10A_HUMAN	M	234	ENSP00000369438:V234M	ENSP00000369438:V234M	V	+	1	0	KRTAP10-10	44882462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.581000	0.02119	-0.564000	0.06070	-1.314000	0.01303	GTG			0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688		A	46058034	G	A	46058034	3	1	144	1	0	0	0	0	1	0	0	0	8521	1145	40	1	702	1	KRTAP10-10	21	46058034	Missense_Mutation	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10	835791	46058034	2071861	65	10630											
CACNA1I	8911	mdanderson.org	37	chr22	40061521	40061521	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcatcagccgggcgccGggcctgaagctggtggtgga	6	7	18	10	3	2	1	2	1	0	0	2	2	2	2	3	5	2	1	3	5	1	0	rs374991740		TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chr22:40061521G>T	ENST00000402142.3	+	22	3870	c.3870G>T	c.(3868-3870)ccG>ccT	p.P1290P	CACNA1I_ENST00000407673.1_Silent_p.P1255P|CACNA1I_ENST00000401624.1_Silent_p.P1290P|CACNA1I_ENST00000336649.4_Silent_p.P1296P|CACNA1I_ENST00000404898.1_Silent_p.P1255P|CACNA1I_ENST00000400164.3_Silent_p.P1255P	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1290					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCGGGCGCCGGGCCTGAAGC	0.617																																					p.P1290P													CACNA1I_ENST00000402142,NS,carcinoma,+1,2	CACNA1I_ENST00000402142	1	2	0			c.G3870T												79	81	80					22																	40061521		2159	4242	6401	SO:0001819	synonymous_variant	8911	exon22			GGCGCCGGGCCTG	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3870G>T	22.37:g.40061521G>T			66	0	0		51	0.06	3	NM_021096	0		0	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	CCDS46710.1																																																																																					0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000321290.1		NM_001003406		T	40061521	G	T	40061521	2	4	144	1	0	0	0	0	0	0	0	1	2548	1103	39	1		1	CACNA1I	22	40061521	Silent	SNP	G	TCGA-ZM-AA0E-01A-12D-A435-10		40061521	11243045	66	10631											
MAGEE2	139599	mdanderson.org	37	chrX	75004549	75004549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagaaactccagcatcTcggactgctggatagacccc	10	8	9	14	1	2	2	0	1	2	2	4	5	3	4	3	2	3	2	3	2	2	1			TCGA-ZM-AA0E-01A-12D-A435-10	TCGA-ZM-AA0E-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbb79a24-d11f-4205-b2b6-a9cd8d31a869	22c71019-10f2-4bec-b3a6-2640f303435e	g.chrX:75004549T>C	ENST00000373359.2	-	1	530	c.338A>G	c.(337-339)gAg>gGg	p.E113G		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	113	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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						CTCCAGCATCTCGGACTGCTG	0.527																																					p.E113G													.	.			0			c.A338G												35	31	32					X																	75004549		2203	4300	6503	SO:0001583	missense	139599	exon1			AGCATCTCGGACT	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.338A>G	X.37:g.75004549T>C	ENSP00000362457:p.Glu113Gly		68	0	0		54	0.06	3	NM_138703	0		0	Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	T	9.697	1.153322	0.21371	.	.	ENSG00000186675	ENST00000373359	T	0.06849	3.25	3.02	3.02	0.34903	.	.	.	.	.	T	0.23688	0.0573	M	0.71920	2.185	0.27839	N	0.941184	D	0.76494	0.999	D	0.83275	0.996	T	0.02625	-1.1132	9	0.62326	D	0.03	.	6.8651	0.24088	0.0:0.0:0.0:1.0	.	113	Q8TD90	MAGE2_HUMAN	G	113	ENSP00000362457:E113G	ENSP00000362457:E113G	E	-	2	0	MAGEE2	74921274	0.999000	0.42202	0.930000	0.37139	0.568000	0.35870	2.458000	0.45014	1.425000	0.47237	0.303000	0.19852	GAG			0.527	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057288.1		NM_138703		C	75004549	T	C	75004549	3	2	144	1	0	0	0	0	1	0	0	0	9202	1551	54	4	1237	4	MAGEE2	23	75004549	Missense_Mutation	SNP	T	TCGA-ZM-AA0E-01A-12D-A435-10		75004549	80266011	67	10632											
BMP8B	656	mdanderson.org	37	chr1	40226206	40226206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtgggtgcacagcacGccttggggactgcgtctggc	4	9	17	11	2	1	0	0	0	1	0	1	1	1	1	1	5	3	3	1	5	0	2	rs147897246	byFrequency	TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr1:40226206G>T	ENST00000372827.3	-	7	1469	c.1094C>A	c.(1093-1095)gCg>gAg	p.A365E	PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	365					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|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;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCACAGCACGCCTTGGGGAC	0.627																																					p.A365E													BMP8B,NS,carcinoma,+1,1	BMP8B	1	1	0			c.C1094A												113	81	92					1																	40226206		2203	4300	6503	SO:0001583	missense	656	exon7			CAGCACGCCTTGG	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"Bone morphogenetic proteins", "Endogenous ligands"	1075	protein-coding gene	gene with protein product	"osteogenic protein 2"	602284	"bone morphogenetic protein 8 (osteogenic protein 2)"	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.1094C>A	1.37:g.40226206G>T	ENSP00000361915:p.Ala365Glu		44	0.0227272727	1		52	0.06	3	NM_001720	1	0	0	E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	CCDS444.1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.843659	0.51164	.	.	ENSG00000116985	ENST00000372827	D	0.85411	-1.98	4.21	2.31	0.28768	Transforming growth factor-beta, C-terminal (3);	0.065108	0.64402	U	0.000012	D	0.91112	0.7202	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90212	0.4265	10	0.87932	D	0	.	9.5092	0.39067	0.1791:0.0:0.8209:0.0	.	365	P34820	BMP8B_HUMAN	E	365	ENSP00000361915:A365E	ENSP00000361915:A365E	A	-	2	0	BMP8B	39998793	1.000000	0.71417	0.979000	0.43373	0.171000	0.22731	5.194000	0.65125	0.511000	0.28236	-0.119000	0.15052	GCG			0.627	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000025641.1		NM_001720		T	40226206	G	T	40226206	3	4	145	1	0	0	0	0	1	0	0	0	1467	1087	38	1	118	1	BMP8B	1	40226206	Missense_Mutation	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		40226206	209024415	1	10633											
DDX20	11218	mdanderson.org	37	chr1	112298730	112298730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtgctgttggcggagccgGccgacttcgagtcactgctg	5	10	15	11	4	1	0	1	0	0	0	2	3	1	1	2	3	3	3	2	3	0	2			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr1:112298730G>T	ENST00000369702.4	+	1	804	c.184G>T	c.(184-186)Gcc>Tcc	p.A62S	FAM212B_ENST00000412270.1_5'Flank|FAM212B_ENST00000444059.2_5'Flank|DDX20_ENST00000536167.1_Missense_Mutation_p.A62S	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	62					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCGGAGCCGGCCGACTTCGA	0.716																																					p.A62S													.	.			0			c.G184T												8	8	8					1																	112298730		1973	3914	5887	SO:0001583	missense	11218	exon1			GAGCCGGCCGACT	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.184G>T	1.37:g.112298730G>T	ENSP00000358716:p.Ala62Ser		18	0	0		21	0.1	2	NM_007204	0		0	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	7.061	0.566473	0.13560	.	.	ENSG00000064703	ENST00000369702;ENST00000536167	T;T	0.41065	1.36;1.01	4.68	4.68	0.58851	RNA helicase, DEAD-box type, Q motif (1);	0.261887	0.37809	N	0.001929	T	0.14313	0.0346	L	0.50333	1.59	0.09310	N	1	B	0.25441	0.126	B	0.21546	0.035	T	0.11179	-1.0598	10	0.11794	T	0.64	-21.467	7.3242	0.26545	0.087:0.0:0.7438:0.1692	.	62	Q9UHI6	DDX20_HUMAN	S	62	ENSP00000358716:A62S;ENSP00000439026:A62S	ENSP00000358716:A62S	A	+	1	0	DDX20	112100253	0.424000	0.25490	0.626000	0.29213	0.633000	0.38033	2.169000	0.42434	2.419000	0.82065	0.655000	0.94253	GCC			0.716	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033063.2		NM_007204		T	112298730	G	T	112298730	3	4	145	1	0	0	0	0	1	0	0	0	4350	1203	42	2	186	2	DDX20	1	112298730	Missense_Mutation	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10	72072524	112298730	136951891	2	10634											
RFWD2	64326	mdanderson.org	37	chr1	176175758	176175758	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgatgagcccgttgcaGaggggggcgaggagaggtcg	8	6	21	6	3	0	4	0	2	0	2	1	7	0	4	1	5	2	3	1	5	0	2			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr1:176175758G>T	ENST00000367669.3	-	1	871	c.357C>A	c.(355-357)ctC>ctA	p.L119L	RFWD2_ENST00000308769.8_Silent_p.L119L|RP11-195C7.1_ENST00000456125.1_RNA	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	119					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						GCCCGTTGCAGAGGGGGGCGA	0.617																																					p.L119L	Ovarian(134;1413 1765 5706 35534 51541)												.	.			0			c.C357A												35	35	35					1																	176175758		2189	4285	6474	SO:0001819	synonymous_variant	64326	exon1			GTTGCAGAGGGGG	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.357C>A	1.37:g.176175758G>T			24	0	0		34	0.09	3	NM_022457	6	0	0	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	CCDS30944.1																																																																																					0.617	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084672.2		NM_022457		T	176175758	G	T	176175758	2	4	145	1	0	0	0	0	0	0	0	1	13283	929	33	3		3	RFWD2	1	176175758	Silent	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10	63877028	176175758	73074863	3	10635											
PPP1R15B	84919	broad.mit.edu	37	chr1	204378635	204378636	+	Frame_Shift_Del	DEL	AT	AT	-																															caaaccttttttcttttgacAtgtgtgtgtcttcctccaga																										TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr1:204378635_204378636delAT	ENST00000367188.4	-	1	2283_2284	c.1904_1905delAT	c.(1903-1905)catfs	p.H635fs	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	635					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)			TTCTTTTGACATGTGTGTGTCT	0.411																																					p.635_635del													.	PPP1R15B	67		0			c.1904_1905del																																									SO:0001589	frameshift_variant	84919	exon1			TTTGACATGTGTG	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.1904_1905delAT	1.37:g.204378635_204378636delAT	ENSP00000356156:p.His635fs		83	0	0		103	0.08	8	NM_032833	9	0	0	Q53GQ4|Q658M2|Q6P156|Q96SN1	Frame_Shift_Del	DEL	ENST00000367188.4	37	CCDS1445.1																																																																																					0.411	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087974.1		NM_032833		-	204378636	AT	-	204378635	7	5	145	1	0	1	0	1	0	0	0	0	12384	214	8	0	244	0	PPP1R15B	1	204378635	Frame_Shift_Del	DEL	AT	TCGA-ZM-AA0F-01A-21D-A435-10	28202877	204378635	44871986	4	10636											
VRK2	7444	bcgsc.ca;mdanderson.org	37	chr2	58316777	58316777	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacagttggatgtactGgaatatatacatgaaaatga	15	14	8	4	0	1	2	1	2	0	0	1	4	1	4	0	2	2	2	0	2	7	7			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr2:58316777G>T	ENST00000435505.2	+	10	1207	c.462G>T	c.(460-462)ctG>ctT	p.L154L	VRK2_ENST00000417641.2_Silent_p.L154L|VRK2_ENST00000340157.4_Silent_p.L154L|VRK2_ENST00000412104.2_Silent_p.L154L|VRK2_ENST00000440705.2_Silent_p.L131L			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TGGATGTACTGGAATATATAC	0.284																																					p.L154L													.	VRK2	46		0			c.G462T												64	70	68					2																	58316777		2202	4292	6494	SO:0001819	synonymous_variant	7444	exon7			TGTACTGGAATAT	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.462G>T	2.37:g.58316777G>T			407	0	0		553	0.02	13	NM_001130480	8	0.13	1	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Silent	SNP	ENST00000435505.2	37	CCDS1859.1																																																																																					0.284	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325304.2	rescued with RNA-seq	NM_006296		T	58316777	G	T	58316777	2	4	145	1	0	0	0	0	0	0	0	1	17244	1335	47	3		3	VRK2	2	58316777	Silent	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		58316777	184882596	5	10637			1	20		2	2	40	N	G_A	4.031349e-05
VRK2	7444	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr2	58316816	58316816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatatgttcatggtgatatAaaagcagcaaatctactttt	15	14	7	5	0	2	1	1	1	1	0	2	2	2	1	0	1	3	3	0	1	7	7			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr2:58316816A>G	ENST00000435505.2	+	10	1246	c.501A>G	c.(499-501)atA>atG	p.I167M	VRK2_ENST00000417641.2_Missense_Mutation_p.I167M|VRK2_ENST00000340157.4_Missense_Mutation_p.I167M|VRK2_ENST00000412104.2_Missense_Mutation_p.I167M|VRK2_ENST00000440705.2_Missense_Mutation_p.I144M			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		I -> V (in dbSNP:rs1051061). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16704422, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9344656}.		cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATGGTGATATAAAAGCAGCAA	0.284																																					p.I167M													.	VRK2	46		0			c.A501G												77	83	81					2																	58316816		2203	4293	6496	SO:0001583	missense	7444	exon7			TGATATAAAAGCA	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.501A>G	2.37:g.58316816A>G	ENSP00000408002:p.Ile167Met		458	0	0		629	0.03	16	NM_001130480	15	0.07	1	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446296	0.63178	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.67	3.21	0.36854	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	0.58481	0.2125	M	0.92970	3.365	0.37098	D	0.89974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.997;0.998	T	0.68116	-0.5494	10	0.87932	D	0	-24.1341	6.6028	0.22710	0.6791:0.1256:0.0:0.1953	.	171;167;167;167	B7Z2X1;Q86Y07-2;Q86Y07-5;Q86Y07	.;.;.;VRK2_HUMAN	M	167;167;171;167;167;167;144	ENSP00000408002:I167M;ENSP00000402375:I167M;ENSP00000404156:I167M;ENSP00000342381:I167M;ENSP00000398323:I144M	ENSP00000342381:I167M	I	+	3	3	VRK2	58170320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.091000	0.30915	2.150000	0.67090	0.477000	0.44152	ATA			0.284	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325304.2	rescued with RNA-seq	NM_006296		G	58316816	A	G	58316816	3	3	145	1	0	0	0	0	1	0	0	0	17244	352	13	4	523	4	VRK2	2	58316816	Missense_Mutation	SNP	A	TCGA-ZM-AA0F-01A-21D-A435-10	39	58316816	184882557	6	10638			1	20		2	2	40	N	G_A	4.031349e-05
DNAJC10	54431	bcgsc.ca;mdanderson.org	37	chr2	183582950	183582950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttggagtgtccaaaactgCaagcagtagagaaataagac	17	7	10	7	0	0	2	0	0	0	2	1	4	1	3	1	1	3	3	1	1	6	3			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr2:183582950C>T	ENST00000264065.7	+	3	552	c.137C>T	c.(136-138)gCa>gTa	p.A46V	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.A46V	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	46	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCCAAAACTGCAAGCAGTAGA	0.348																																					p.A46V	Pancreas(56;860 1183 25669 35822 48585)												DNAJC10,NS,malignant_melanoma,+1,1	DNAJC10	76	1	0			c.C137T												83	86	85					2																	183582950		2203	4300	6503	SO:0001583	missense	54431	exon3			AAACTGCAAGCAG		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.137C>T	2.37:g.183582950C>T	ENSP00000264065:p.Ala46Val		77	0	0		104	0.05	5	NM_001271581	16	0	0	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183057	0.94885	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.39229	1.09;1.09	5.67	5.67	0.87782	Heat shock protein DnaJ, N-terminal (5);	0.111999	0.64402	D	0.000011	T	0.67961	0.2949	M	0.83384	2.64	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.66602	0.945;0.89	T	0.72194	-0.4364	10	0.87932	D	0	.	18.7591	0.91843	0.0:1.0:0.0:0.0	.	46;46	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	V	46	ENSP00000264065:A46V;ENSP00000441560:A46V	ENSP00000264065:A46V	A	+	2	0	DNAJC10	183291195	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.715000	0.84713	2.676000	0.91093	0.650000	0.86243	GCA			0.348	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334418.2		NM_018981		T	183582950	C	T	183582950	3	4	145	1	0	0	0	0	1	0	0	0	4634	710	25	2	139	2	DNAJC10	2	183582950	Missense_Mutation	SNP	C	TCGA-ZM-AA0F-01A-21D-A435-10	125266134	183582950	59616423	7	10639											
NCL	4691	hgsc.bcm.edu;broad.mit.edu	37	chr2	232325382	232325384	+	In_Frame_Del	DEL	TCC	TCC	-																															agaatctaatttaagtacctTcctcctcctcttcttcctcc																								rs140018754		TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	TCC	TCC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr2:232325382_232325384delTCC	ENST00000322723.4	-	4	1047_1049	c.807_809delGGA	c.(805-810)gaggaa>gaa	p.269_270EE>E	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	269	Asp/Glu-rich (acidic).				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)		TTAAGTACCTTCCTCCTCCTCTT	0.409																																					p.270_270del													.	NCL	80		0			c.808_810del									1,0,4265		0,0,1,0,0,2132						4.7	0.3			220	4,5,8245		0,0,4,0,5,4118	no	codingComplex	NCL	NM_005381.2		0,0,5,0,5,6250	A1A1,A1A2,A1R,A2A2,A2R,RR		0.109,0.0234,0.0799				5,5,12510				SO:0001651	inframe_deletion	4691	exon4			GTACCTTCCTCCT		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.807_809delGGA	2.37:g.232325388_232325390delTCC	ENSP00000318195:p.Glu271del		142	0	0		196	0.08	16	NM_005381	215	0	0	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	In_Frame_Del	DEL	ENST00000322723.4	37	CCDS33397.1																																																																																					0.409	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000332731.1		NM_005381		-	232325384	TCC	-	232325382	7	5	145	1	0	1	0	1	0	0	0	0	10243	1783	62	0	1367	0	NCL	2	232325382	In_Frame_Del	DEL	TCC	TCGA-ZM-AA0F-01A-21D-A435-10	48742432	232325382	10873991	8	10640											
FGD5	152273	mdanderson.org	37	chr3	14940334	14940334	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaccaagtgctcctcacagGtgggccccacaggagatcaa	11	6	11	13	0	2	1	2	0	0	1	3	2	3	1	4	3	2	2	4	3	3	1			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr3:14940334G>T	ENST00000285046.5	+	7	3264		c.e7+1		FGD5_ENST00000476851.1_Splice_Site|FGD5_ENST00000543601.1_Splice_Site	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5						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						CTCCTCACAGGTGGGCCCCAC	0.622																																					.													.	.			0			c.3154+1G>T												23	26	25					3																	14940334		1992	4142	6134	SO:0001630	splice_region_variant	152273	exon7			TCACAGGTGGGCC	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.3154+1G>T	3.37:g.14940334G>T			39	0	0		52	0.06	3	NM_152536	0		0	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Splice_Site	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289343	0.59976	.	.	ENSG00000154783	ENST00000285046;ENST00000543601;ENST00000457774	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7792	0.57466	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FGD5	14915338	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.289000	0.72696	2.059000	0.61396	0.591000	0.81541	.			0.622	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340628.1		NM_152536	Intron	T	14940334	G	T	14940334	5	4	145	1	0	0	0	0	0	0	1	0	5849	1275	44	3	3181	3	FGD5	3	14940334	Splice_Site	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		14940334	183082096	9	10641											
SATB1	6304	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr3	18458414	18458414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggcctgggcagcagagCtatgtgaataacctagagac	11	9	12	9	0	0	3	0	1	0	2	0	4	0	3	2	2	3	3	2	2	4	4			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr3:18458414C>T	ENST00000338745.6	-	3	2102	c.368G>A	c.(367-369)aGc>aAc	p.S123N	SATB1_ENST00000475083.1_5'UTR|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.S123N|SATB1_ENST00000417717.2_Missense_Mutation_p.S123N	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	123	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGCAGCAGAGCTATGTGAATA	0.418																																					p.S123N													SATB1,NS,carcinoma,-1,1	SATB1	-1	1	0			c.G368A												176	157	163					3																	18458414		2203	4300	6503	SO:0001583	missense	6304	exon3			GCAGAGCTATGTG		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.368G>A	3.37:g.18458414C>T	ENSP00000341024:p.Ser123Asn		83	0	0		99	0.06	6	NM_002971	4	0	0	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291231	0.40494	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;0.71	5.33	5.33	0.75918	.	0.038908	0.85682	D	0.000000	D	0.88112	0.6349	L	0.58101	1.795	0.80722	D	1	D;B	0.67145	0.996;0.379	D;B	0.68192	0.956;0.105	D	0.88536	0.3106	10	0.66056	D	0.02	-16.3973	19.3886	0.94570	0.0:1.0:0.0:0.0	.	123;123	Q01826-2;Q01826	.;SATB1_HUMAN	N	123	ENSP00000341024:S123N;ENSP00000399708:S123N;ENSP00000399518:S123N;ENSP00000402982:S123N;ENSP00000406727:S123N;ENSP00000390529:S123N;ENSP00000398072:S123N	ENSP00000341024:S123N	S	-	2	0	SATB1	18433418	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.646000	0.89796	0.561000	0.74099	AGC			0.418	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252138.4		NM_001131010		T	18458414	C	T	18458414	3	4	145	1	0	0	0	0	1	0	0	0	13876	797	28	2	1959	2	SATB1	3	18458414	Missense_Mutation	SNP	C	TCGA-ZM-AA0F-01A-21D-A435-10	3518080	18458414	179564016	10	10642											
STAB1	23166	mdanderson.org	37	chr3	52557097	52557097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggatcagcacgtgcaatGggaagctgctggatgtgctg	9	8	16	8	2	1	0	1	0	0	0	1	3	1	3	0	3	5	5	0	3	2	0			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr3:52557097G>T	ENST00000321725.6	+	63	7043	c.6967G>T	c.(6967-6969)Ggg>Tgg	p.G2323W		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2323	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				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)		CACGTGCAATGGGAAGCTGCT	0.627																																					p.G2323W													.	.			0			c.G6967T												94	94	94					3																	52557097		2202	4300	6502	SO:0001583	missense	23166	exon63			TGCAATGGGAAGC	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.6967G>T	3.37:g.52557097G>T	ENSP00000312946:p.Gly2323Trp		57	0	0		46	0.07	3	NM_015136	9	0	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247343	0.59103	.	.	ENSG00000010327	ENST00000321725	D	0.92099	-2.97	5.74	5.74	0.90152	FAS1 domain (2);	0.184631	0.46758	D	0.000279	D	0.96371	0.8816	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96431	0.9319	10	0.87932	D	0	.	19.5294	0.95222	0.0:0.0:1.0:0.0	.	210;2323	B3KSK0;Q9NY15	.;STAB1_HUMAN	W	2323	ENSP00000312946:G2323W	ENSP00000312946:G2323W	G	+	1	0	STAB1	52532137	1.000000	0.71417	0.996000	0.52242	0.068000	0.16541	7.637000	0.83313	2.712000	0.92718	0.561000	0.74099	GGG			0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351380.2		NM_015136		T	52557097	G	T	52557097	3	4	145	1	0	0	0	0	1	0	0	0	15260	1348	47	3	7217	3	STAB1	3	52557097	Missense_Mutation	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10	34098683	52557097	145465333	11	10643											
TNIP2	79155	mdanderson.org	37	chr4	2749517	2749517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctcgttggccaaggagcgGcacaggacgtcactggcggc	7	6	16	12	4	2	0	1	0	1	0	3	2	2	2	1	6	1	2	1	6	1	1			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr4:2749517G>A	ENST00000315423.7	-	2	518	c.432C>T	c.(430-432)tgC>tgT	p.C144C	TNIP2_ENST00000505186.1_5'Flank|TNIP2_ENST00000510267.1_Silent_p.C37C|TNIP2_ENST00000503235.1_Silent_p.C144C	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)		CCAAGGAGCGGCACAGGACGT	0.647																																					p.C144C													.	.			0			c.C432T												120	114	116					4																	2749517		2203	4300	6503	SO:0001819	synonymous_variant	79155	exon2			GGAGCGGCACAGG	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.432C>T	4.37:g.2749517G>A			54	0	0		42	0.07	3	NM_024309	8	0	0		Silent	SNP	ENST00000315423.7	37	CCDS3362.1																																																																																					0.647	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206589.5		NM_024309		A	2749517	G	A	2749517	2	1	145	1	0	0	0	0	0	0	0	1	16338	1195	42	2		2	TNIP2	4	2749517	Silent	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		2749517	188404759	12	10644											
KIT	3815	broad.mit.edu;bcgsc.ca	37	chr4	55593628	55593654	+	In_Frame_Del	DEL	GAAACAATTATGTTTACATAGACCCAA	GAAACAATTATGTTTACATAGACCCAA	-																															ggttgttgaggagataaatgGaaacaattatgtttacatag																								rs587778431|rs200945282		TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	GAAACAATTATGTTTACATAGACCCAA	GAAACAATTATGTTTACATAGACCCAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr4:55593628_55593654delGAAACAATTATGTTTACATAGACCCAA	ENST00000288135.5	+	11	1791_1817	c.1694_1720delGAAACAATTATGTTTACATAGACCCAA	c.(1693-1722)ggaaacaattatgtttacatagacccaaca>gca	p.565_574GNNYVYIDPT>A		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	565	Important for interaction with phosphotyrosine-binding proteins.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y570_L576del(9)|p.P573L(4)|p.V560_L576del(4)|p.N566N(4)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.N567K(3)|p.V555_I571del(3)|p.V555_P573del(3)|p.I563_L576del(2)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.Y568D(2)|p.N564_Y578del(2)|p.W557_Q575del(2)|p.N564_L576del(2)|p.I571_L576del(2)|p.Y568_T574del(2)|p.N566D(2)|p.D572N(2)|p.I571_N587del(1)|p.V555_G565del(1)|p.Y568Y(1)|p.Q556_N566>SNNLQLY(1)|p.Y568_L576>CV(1)|p.I563_D572del(1)|p.Y570D(1)|p.Y568S(1)|p.G565E(1)|p.E562_V569>D(1)|p.E561_P577del(1)|p.E562_P573del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V569_D572del(1)|p.V555_Y570del(1)|p.V569_L576del(1)|p.M552_T574>TESA(1)|p.571_572>GE(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.V555_N566>D(1)|p.I571L(1)|p.Y568C(1)|p.G565V(1)|p.Q556_D572del(1)|p.I571R(1)|p.V569G(1)|p.V569A(1)|p.N564_P573>T(1)|p.P573_T574insYIDP(1)|p.V569I(1)|p.K558_L576>NV(1)|p.V559_P573>A(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.Y570*(1)|p.V569_Q575del(1)|p.V569_L576>G(1)|p.N564_P577del(1)|p.I571M(1)|p.V559_L576del(1)|p.N564_T574del(1)|p.K558_D572del(1)|p.Y570_L576delYIDPTQL(1)|p.N566S(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.N567_L576>E(1)|p.D572Y(1)|p.M552_D572del(1)|p.Q556_T574del(1)|p.D572A(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.D572D(1)|p.T574A(1)|p.N567_P573del(1)|p.N567H(1)|p.N564_P573>TS(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCC	0.392		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.565_574del			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,caecum,carcinoma,+1,5	KIT	7396	5	119	Deletion - In frame(62)|Substitution - Missense(29)|Complex - deletion inframe(19)|Substitution - coding silent(6)|Substitution - Nonsense(1)|Complex - insertion inframe(1)|Insertion - In frame(1)	soft_tissue(93)|skin(10)|haematopoietic_and_lymphoid_tissue(7)|eye(4)|lung(3)|testis(1)|ovary(1)	c.1694_1720del																																									SO:0001651	inframe_deletion	3815	exon11	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	TAAATGGAAACAA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1694_1720delGAAACAATTATGTTTACATAGACCCAA	4.37:g.55593628_55593654delGAAACAATTATGTTTACATAGACCCAA	ENSP00000288135:p.Gly565_Thr574delinsAla		126	0	0		158	0.05	8	NM_000222	0		0	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	In_Frame_Del	DEL	ENST00000288135.5	37	CCDS3496.1																																																																																					0.392	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1				-	55593654	GAAACAATTATGTTTACATAGACCCAA	-	55593628	7	5	145	1	0	1	0	1	0	0	0	0	8344	1174	41	0	1736	0	KIT	4	55593628	In_Frame_Del	DEL	GAAACAATTATGTTTACATAGACCCAA	TCGA-ZM-AA0F-01A-21D-A435-10	52844111	55593628	135560648	13	10645											
DSPP	1834	bcgsc.ca	37	chr4	88537036	88537036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagcagtgacagcagtgaCagcagcgacagcagtgatag	14	5	14	8	1	0	3	0	3	0	0	0	5	0	3	0	0	5	4	0	0	2	2	rs111205183		TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr4:88537036C>T	ENST00000282478.7	+	4	3255	c.3222C>T	c.(3220-3222)gaC>gaT	p.D1074D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1074D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1074	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagtgacagcagcgaca	0.537																																					p.D1074D													DSPP,NS,carcinoma,0,1	DSPP	174	1	0			c.C3222T												57	64	62					4																	88537036		1567	2840	4407	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3222C>T	4.37:g.88537036C>T			60	0	0		84	0.13	11	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208		T	88537036	C	T	88537036	2	4	145	1	0	0	0	0	0	0	0	1	4787	477	17	3		3	DSPP	4	88537036	Silent	SNP	C	TCGA-ZM-AA0F-01A-21D-A435-10	32943408	88537036	102617240	14	10646											
JMY	133746	mdanderson.org	37	chr5	78532852	78532852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccttctgggggacccgCggctgcggagtcctggcagc	4	6	17	14	3	1	0	0	0	1	0	2	2	2	2	3	5	3	3	3	5	0	1			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr5:78532852C>T	ENST00000396137.4	+	1	841	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	DMGDH_ENST00000520388.1_5'Flank	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	127					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GGGGGACCCGCGGCTGCGGAG	0.687																																					p.R127W													.	.			0			c.C379T												4	6	5					5																	78532852		649	1515	2164	SO:0001583	missense	133746	exon1			GACCCGCGGCTGC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.379C>T	5.37:g.78532852C>T	ENSP00000379441:p.Arg127Trp		21	0	0		39	0.08	3	NM_152405	0		0	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984344	0.18889	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.07021	3.23	3.59	-0.717	0.11208	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	D	0.54772	0.968	B	0.36959	0.237	T	0.39683	-0.9602	9	0.56958	D	0.05	.	3.6652	0.08253	0.1751:0.4855:0.0:0.3395	.	127	Q8N9B5	JMY_HUMAN	W	127	ENSP00000379441:R127W	ENSP00000282259:R127W	R	+	1	2	JMY	78568608	0.000000	0.05858	0.001000	0.08648	0.110000	0.19582	-0.749000	0.04813	-0.146000	0.11274	0.462000	0.41574	CGG			0.687	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254070.4		NM_152405		T	78532852	C	T	78532852	3	4	145	1	0	0	0	0	1	0	0	0	7972	759	27	1	381	1	JMY	5	78532852	Missense_Mutation	SNP	C	TCGA-ZM-AA0F-01A-21D-A435-10		78532852	102382408	15	10647											
SLC12A2	6558	broad.mit.edu	37	chr5	127420309	127420309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacaccatggacgctgtGcccaggatcgatcactaccg	11	6	9	15	3	1	0	1	0	0	0	2	3	1	2	3	2	3	1	3	2	2	1			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr5:127420309G>T	ENST00000262461.2	+	1	852	c.663G>T	c.(661-663)gtG>gtT	p.V221V	CTC-228N24.3_ENST00000501702.2_lincRNA|SLC12A2_ENST00000343225.4_Silent_p.V221V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	221					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TGGACGCTGTGCCCAGGATCG	0.637																																					p.V221V													.	SLC12A2	119		0			c.G663T												63	63	63					5																	127420309		2178	4241	6419	SO:0001819	synonymous_variant	6558	exon1			CGCTGTGCCCAGG		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.663G>T	5.37:g.127420309G>T			158	0.0126582278	2		244	0.04	10	NM_001046	9	0	0	Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	CCDS4144.1																																																																																					0.637	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250972.1		NM_001046		T	127420309	G	T	127420309	2	4	145	1	0	0	0	0	0	0	0	1	14406	1306	46	2		2	SLC12A2	5	127420309	Silent	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10	48887457	127420309	53494951	16	10648											
C6orf174	387104	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	chr6	127804080	127804080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgggagtctgttgagccTttttttcagattttggcaaa	7	17	11	6	0	2	2	1	1	1	1	2	3	2	3	1	2	1	2	1	2	1	6	rs34142169		TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr6:127804080T>C	ENST00000525778.1	-	5	2280	c.1535A>G	c.(1534-1536)aAg>aGg	p.K512R	SOGA3_ENST00000556132.1_Missense_Mutation_p.K512R|SOGA3_ENST00000465909.2_Missense_Mutation_p.K512R|SOGA3_ENST00000368268.2_Missense_Mutation_p.K512R|SOGA3_ENST00000481848.2_Missense_Mutation_p.K512R			Q5TF21	SOGA3_HUMAN	SOGA family member 3	512					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGTTGAGCCTTTTTTTCAGA	0.294																																					p.K512R													C6orf174,right_upper_lobe,carcinoma,0,1	C6orf174	0	1	0			c.A1535G												133	121	125					6																	127804080		1790	4063	5853	SO:0001583	missense	387104	exon5			TGAGCCTTTTTTT	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.1535A>G	6.37:g.127804080T>C	ENSP00000434570:p.Lys512Arg		91	0.010989011	1		120	0.05	6	NM_001012279	0		0		Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.244722	0.39697	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.71	4.55	0.56014	.	0.138296	0.64402	N	0.000004	T	0.17023	0.0409	L	0.45137	1.4	0.47123	D	0.999325	B	0.18863	0.031	B	0.17098	0.017	T	0.04796	-1.0926	10	0.25751	T	0.34	-29.6827	9.5111	0.39078	0.0:0.0883:0.0:0.9117	.	512	Q5TF21	CF174_HUMAN	R	512	ENSP00000451768:K512R;ENSP00000357251:K512R;ENSP00000434570:K512R;ENSP00000435559:K512R	ENSP00000435559:K512R	K	-	2	0	C6orf174	127845773	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.156000	0.50708	0.979000	0.38497	0.528000	0.53228	AAG			0.294	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388246.1		NM_001012279		C	127804080	T	C	127804080	3	2	145	1	0	0	0	0	1	0	0	0	2347	1609	56	4	1320	4	C6orf174	6	127804080	Missense_Mutation	SNP	T	TCGA-ZM-AA0F-01A-21D-A435-10		127804080	43310987	17	10649											
TBP	6908	broad.mit.edu;mdanderson.org	37	chr6	170871034	170871034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcaacagcaacagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr6:170871034G>A	ENST00000392092.2	+	3	489	c.210G>A	c.(208-210)caG>caA	p.Q70Q	TBP_ENST00000230354.6_Silent_p.Q70Q|TBP_ENST00000540980.1_Silent_p.Q50Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	70	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcaacagc	0.572																																					p.Q70Q													.	TBP	58		0			c.G210A												20	24	23					6																	170871034		2049	3974	6023	SO:0001819	synonymous_variant	6908	exon3			GCAGCAGCAGCAA	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.210G>A	6.37:g.170871034G>A			59	0.0169491525	1		87	0.05	4	NM_003194	6	0	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																					0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000043271.2		NM_003194		A	170871034	G	A	170871034	2	1	145	1	0	0	0	0	0	0	0	1	15667	962	34	2		2	TBP	6	170871034	Silent	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10	43066954	170871034	244033	18	10650											
C7orf30	115416	mdanderson.org	37	chr7	23349084	23349084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagctcagatagcacctgaGacagtacctgaagacttcat	13	10	8	10	0	2	4	2	2	0	3	2	5	2	4	2	0	3	3	2	0	4	4			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr7:23349084G>T	ENST00000466681.1	+	4	780	c.627G>T	c.(625-627)gaG>gaT	p.E209D		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	209					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											TAGCACCTGAGACAGTACCTG	0.368																																					p.E209D													.	.			0			c.G627T												121	113	116					7																	23349084		2203	4300	6503	SO:0001583	missense	115416	exon4			ACCTGAGACAGTA	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.627G>T	7.37:g.23349084G>T	ENSP00000419370:p.Glu209Asp		40	0	0		71	0.06	4	NM_138446	200	0	0	A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640626	0.47153	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.46	1.45	0.22620	.	0.084400	0.48286	D	0.000194	T	0.35508	0.0934	N	0.24115	0.695	0.28437	N	0.916998	D	0.67145	0.996	P	0.58266	0.836	T	0.19321	-1.0309	9	0.56958	D	0.05	-6.1559	9.085	0.36577	0.4622:0.0:0.5378:0.0	.	209	Q96EH3	CG030_HUMAN	D	209	.	ENSP00000419370:E209D	E	+	3	2	C7orf30	23315609	0.863000	0.29885	0.984000	0.44739	0.930000	0.56654	0.769000	0.26604	0.235000	0.21160	0.591000	0.81541	GAG			0.368	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250241.2		NM_138446		T	23349084	G	T	23349084	3	4	145	1	0	0	0	0	1	0	0	0	2388	933	33	3	641	3	C7orf30	7	23349084	Missense_Mutation	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		23349084	135789579	19	10651											
EPPK1	83481	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	chr8	144940633	144940633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtggccgcctgcgcctcCagcagcaccagggccgtgcc	4	4	14	19	4	0	0	0	0	0	0	1	0	1	0	8	3	4	2	8	3	0	0			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr8:144940633C>T	ENST00000525985.1	-	2	6860	c.6789G>A	c.(6787-6789)ctG>ctA	p.L2263L				P58107	EPIPL_HUMAN	epiplakin 1	2263						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)			CCTGCGCCTCCAGCAGCACCA	0.726																																					p.L2263L													.	.			0			c.G6789A												39	38	39					8																	144940633		2149	4248	6397	SO:0001819	synonymous_variant	83481	exon1			CGCCTCCAGCAGC	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.6789G>A	8.37:g.144940633C>T			46	0	0		77	0.09	7	NM_031308	3	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																						0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382675.1		NM_031308		T	144940633	C	T	144940633	2	4	145	1	0	0	0	0	0	0	0	1	5197	581	21	3		3	EPPK1	8	144940633	Silent	SNP	C	TCGA-ZM-AA0F-01A-21D-A435-10		144940633	1423389	20	10652											
DNAI1	27019	mdanderson.org	37	chr9	34483453	34483453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcatttagagcatcaGcataggcagaggaaccagga	13	9	11	8	0	3	2	2	0	1	2	3	4	3	4	1	3	3	4	1	3	3	5			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr9:34483453G>T	ENST00000242317.4	+	2	227	c.56G>T	c.(55-57)aGc>aTc	p.S19I	DNAI1_ENST00000545019.1_Missense_Mutation_p.S19I	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	19					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TAGAGCATCAGCATAGGCAGA	0.388									Kartagener syndrome																												p.S19I													.	.			0			c.G56T												137	127	131					9																	34483453		2203	4300	6503	SO:0001583	missense	27019	exon2	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCATCAGCATAGG	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.56G>T	9.37:g.34483453G>T	ENSP00000242317:p.Ser19Ile		33	0	0		47	0.06	3	NM_012144	0		0	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950253	0.34377	.	.	ENSG00000122735	ENST00000242317;ENST00000545019	T;T	0.75589	-0.95;1.33	4.21	-8.42	0.00957	.	1.674770	0.02697	N	0.111374	T	0.56572	0.1994	L	0.36672	1.1	0.09310	N	1	B;B	0.25169	0.119;0.0	B;B	0.22753	0.041;0.0	T	0.45396	-0.9264	10	0.34782	T	0.22	.	1.6163	0.02704	0.4292:0.2589:0.1383:0.1737	.	19;19	B7Z7U1;Q9UI46	.;DNAI1_HUMAN	I	19	ENSP00000242317:S19I;ENSP00000443667:S19I	ENSP00000242317:S19I	S	+	2	0	DNAI1	34473453	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	-3.645000	0.00405	-3.361000	0.00179	-0.391000	0.06502	AGC			0.388	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052192.1				T	34483453	G	T	34483453	3	4	145	1	0	0	0	0	1	0	0	0	4614	971	34	2	62	2	DNAI1	9	34483453	Missense_Mutation	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		34483453	106729978	21	10653											
CNNM1	26507	mdanderson.org	37	chr10	101089191	101089191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggtgggtgtcaggctccGggactgctgcagccgaggcg	5	6	19	11	4	1	0	1	0	0	0	2	2	2	1	2	5	4	3	2	5	0	0			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr10:101089191G>T	ENST00000356713.4	+	1	336	c.47G>T	c.(46-48)cGg>cTg	p.R16L	CNNM1_ENST00000446890.1_Missense_Mutation_p.R16L|CNNM1_ENST00000370534.4_5'Flank|CNNM1_ENST00000370528.3_Missense_Mutation_p.R16L	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	16					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)		GTCAGGCTCCGGGACTGCTGC	0.731																																					p.R16L													.	.			0			c.G47T												3	4	3					10																	101089191		1351	2721	4072	SO:0001583	missense	26507	exon1			GGCTCCGGGACTG	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.47G>T	10.37:g.101089191G>T	ENSP00000349147:p.Arg16Leu		22	0	0		24	0.13	3	NM_020348	0		0	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801485	0.31869	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528	D;D;D	0.83591	-1.74;-1.66;-1.65	3.96	3.02	0.34903	.	.	.	.	.	T	0.62478	0.2431	N	0.08118	0	0.80722	D	1	B;P	0.39216	0.397;0.664	B;B	0.32022	0.103;0.139	T	0.59878	-0.7371	9	0.30854	T	0.27	-0.4459	10.6485	0.45634	0.0:0.1957:0.8042:0.0	.	16;16	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	L	16	ENSP00000349147:R16L;ENSP00000406492:R16L;ENSP00000359559:R16L	ENSP00000349147:R16L	R	+	2	0	CNNM1	101079181	1.000000	0.71417	0.992000	0.48379	0.896000	0.52359	2.247000	0.43151	0.857000	0.35407	0.456000	0.33151	CGG			0.731	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049792.2		NM_020348		T	101089191	G	T	101089191	3	4	145	1	0	0	0	0	1	0	0	0	3614	1116	39	1	49	1	CNNM1	10	101089191	Missense_Mutation	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		101089191	34445556	22	10654											
CCDC73	493860	mdanderson.org	37	chr11	32739692	32739692	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcataatgaatttctgctTcctaagtcaaaaagaaaaag	17	12	5	7	0	3	2	2	1	1	1	4	2	4	2	1	0	1	1	1	0	7	5			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr11:32739692T>A	ENST00000335185.5	-	3	180	c.137A>T	c.(136-138)gAa>gTa	p.E46V	CCDC73_ENST00000531481.1_Splice_Site_p.E46V|CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	46										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AATTTCTGCTTCCTAAGTCAA	0.343																																					p.X46L													.	.			0			c.G137T												131	129	130					11																	32739692		1814	4069	5883	SO:0001630	splice_region_variant	493860	exon3			TCTGCTTCCTAAG	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.136-1A>T	11.37:g.32739692T>A			28	0	0		40	0.08	3	NM_001008391	0		0	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451491	0.43531	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	T	0.65365	0.2684	L	0.43152	1.355	0.80722	D	1	D;D;P	0.61080	0.961;0.989;0.934	P;P;P	0.61658	0.732;0.892;0.835	T	0.67007	-0.5779	8	0.56958	D	0.05	.	12.4836	0.55859	0.0:0.0:0.0:1.0	.	46;46;46	A6H8Y7;Q6ZRK6-2;Q6ZRK6	.;.;CCD73_HUMAN	V	46	.	ENSP00000335325:E46V	E	-	2	0	CCDC73	32696268	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	4.138000	0.58017	2.254000	0.74563	0.533000	0.62120	GAA			0.343	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388874.2		NM_001008391	Missense_Mutation	A	32739692	T	A	32739692	5	1	145	1	0	0	0	0	0	0	1	0	2848	1797	62	5	3166	5	CCDC73	11	32739692	Splice_Site	SNP	T	TCGA-ZM-AA0F-01A-21D-A435-10		32739692	102266824	23	10655											
TCN1	6947	hgsc.bcm.edu;mdanderson.org	37	chr11	59620746	59620746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgttggcacataggccCtgaatacaggtgatataggg	11	12	12	6	0	0	2	0	2	0	0	0	2	0	2	1	4	1	2	1	4	6	7			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr11:59620746C>A	ENST00000257264.3	-	8	1274	c.1170G>T	c.(1168-1170)caG>caT	p.Q390H	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	390	Globular C-terminal beta domain.				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)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACATAGGCCCTGAATACAGG	0.488																																					p.Q390H													TCN1,NS,carcinoma,-2,2	TCN1	-2	2	0			c.G1170T												147	144	145					11																	59620746		2201	4295	6496	SO:0001583	missense	6947	exon8			TAGGCCCTGAATA	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1170G>T	11.37:g.59620746C>A	ENSP00000257264:p.Gln390His		92	0	0		119	0.04	5	NM_001062	2	0	0	A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784823	0.49997	.	.	ENSG00000134827	ENST00000257264	T	0.29917	1.55	5.21	4.21	0.49690	.	0.371791	0.22539	N	0.058742	T	0.46112	0.1376	M	0.67953	2.075	0.25466	N	0.98787	D	0.76494	0.999	D	0.65573	0.936	T	0.32455	-0.9906	10	0.12766	T	0.61	.	11.7285	0.51722	0.1883:0.8117:0.0:0.0	.	390	P20061	TCO1_HUMAN	H	390	ENSP00000257264:Q390H	ENSP00000257264:Q390H	Q	-	3	2	TCN1	59377322	0.357000	0.24938	0.997000	0.53966	0.638000	0.38207	0.257000	0.18369	2.418000	0.82041	0.650000	0.86243	CAG			0.488	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394503.1		NM_001062		A	59620746	C	A	59620746	3	1	145	1	0	0	0	0	1	0	0	0	15729	680	24	3	139	3	TCN1	11	59620746	Missense_Mutation	SNP	C	TCGA-ZM-AA0F-01A-21D-A435-10	26881054	59620746	75385770	24	10656											
MAML2	84441	broad.mit.edu	37	chr11	95825254	95825254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttgctgctgctgctgCtgttgttgctgctgctgctg	0	18	14	9	0	0	0	0	0	0	0	0	0	0	0	0	0	9	13	0	0	0	4	rs61749250		TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr11:95825254C>T	ENST00000524717.1	-	2	3225	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	647					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q647Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgttgttgct	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q647Q				Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,caecum,carcinoma,0,2	MAML2	94	2	1	Substitution - coding silent(1)	endometrium(1)	c.G1941A							C		0,4198		0,0,2099	35	40	38		1941	1.7	0.1	11	dbSNP_129	38	5,8237		0,5,4116	no	coding-synonymous	MAML2	NM_032427.1		0,5,6215	TT,TC,CC		0.0607,0.0,0.0402		647/1157	95825254	5,12435	2099	4121	6220	SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGTTGT	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1941G>A	11.37:g.95825254C>T			60	0.0166666667	1		97	0.06	6	NM_032427	0		0	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																					0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395540.1				T	95825254	C	T	95825254	2	4	145	1	0	0	0	0	0	0	0	1	9222	796	28	2		2	MAML2	11	95825254	Silent	SNP	C	TCGA-ZM-AA0F-01A-21D-A435-10	36204508	95825254	39181262	25	10657											
MTSS1L	92154	mdanderson.org	37	chr16	70697713	70697713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtgggcgtctcctccGtgggggtggccgacagagca	4	7	20	10	3	1	1	0	0	1	1	3	2	2	1	3	6	1	1	3	6	0	0	rs547904006		TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr16:70697713G>T	ENST00000338779.6	-	15	2385	c.2111C>A	c.(2110-2112)aCg>aAg	p.T704K	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	704					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CGTCTCCTCCGTGGGGGTGGC	0.736													G|||	1	0.000199681	8e-04	0	5008	,	,		8270	0		0	False		,,,				2504	0				p.T704K													.	.			0			c.C2111A												4	4	4					16																	70697713		1794	3530	5324	SO:0001583	missense	92154	exon15			TCCTCCGTGGGGG		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.2111C>A	16.37:g.70697713G>T	ENSP00000341171:p.Thr704Lys		17	0	0		19	0.11	2	NM_138383	1	0	0	A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.132017	0.00338	.	.	ENSG00000132613	ENST00000338779	T	0.28454	1.61	4.06	1.92	0.25849	.	4.503820	0.01074	N	0.004869	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24440	-1.0160	10	0.06236	T	0.91	0.1931	7.6916	0.28571	0.115:0.2497:0.6353:0.0	.	704	Q765P7	MTSSL_HUMAN	K	704	ENSP00000341171:T704K	ENSP00000341171:T704K	T	-	2	0	MTSS1L	69255214	0.951000	0.32395	0.001000	0.08648	0.178000	0.23041	0.082000	0.14847	0.661000	0.30985	0.462000	0.41574	ACG			0.736	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434927.3		NM_138383		T	70697713	G	T	70697713	3	4	145	1	0	0	0	0	1	0	0	0	9979	1145	40	1	136	1	MTSS1L	16	70697713	Missense_Mutation	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		70697713	19657040	26	10658											
HYDIN	54768	mdanderson.org	37	chr16	70972656	70972656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagctcccttgtgcttgcGttctgtgaggggaacagaga	9	10	14	8	1	1	3	0	1	1	2	2	5	2	4	1	2	4	3	1	2	2	3			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr16:70972656G>T	ENST00000393567.2	-	44	7006	c.6856C>A	c.(6856-6858)Cgc>Agc	p.R2286S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2286					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)				TTGTGCTTGCGTTCTGTGAGG	0.527																																					p.R2286S													LOC652153,NS,carcinoma,0,4	LOC652153	0	4	0			c.C6856A												57	56	56					16																	70972656		1962	4143	6105	SO:0001583	missense	54768	exon44			GCTTGCGTTCTGT	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.6856C>A	16.37:g.70972656G>T	ENSP00000377197:p.Arg2286Ser		54	0	0		63	0.05	3	NM_001270974	0		0	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	4.675	0.125462	0.08931	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00912	5.55	5.6	-5.49	0.02584	.	0.995444	0.08124	U	0.994297	T	0.00608	0.0020	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.46803	-0.9165	10	0.15952	T	0.53	.	4.5547	0.12131	0.1229:0.0856:0.2829:0.5086	.	2285	F8WD23	.	S	2286;2285	ENSP00000377197:R2286S	ENSP00000313052:R2285S	R	-	1	0	HYDIN	69530157	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.304000	0.08199	-0.451000	0.07097	-0.216000	0.12614	CGC			0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000398624.3				T	70972656	G	T	70972656	3	4	145	1	0	0	0	0	1	0	0	0	7482	1145	40	1	8681	1	HYDIN	16	70972656	Missense_Mutation	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10	274943	70972656	19382097	27	10659											
PRKCSH	5589	hgsc.bcm.edu	37	chr19	11558370	11558370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgaagaagaggctgaagaaga	17	1	22	1	0	0	5	0	1	0	4	0	13	0	12	0	8	0	1	0	8	4	0	rs77563879		TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				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)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																					p.E322E													PRKCSH,caecum,carcinoma,0,1	PRKCSH	0	1	1	Deletion - In frame(1)	central_nervous_system(1)	c.G966A												27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589	exon11			GGAGGAGGAAGAA		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.966G>A	19.37:g.11558370G>A			67	0.0149253731	1		110	0.05	6	NM_001001329	4	0	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																					0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000458817.1				A	11558370	G	A	11558370	2	1	145	1	0	0	0	0	0	0	0	1	12536	991	35	3		3	PRKCSH	19	11558370	Silent	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		11558370	47570613	28	10660											
ZNF831	128611	mdanderson.org	37	chr20	57766775	57766775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggggcgagagcaggtGccaggggatgcacgaaggcg	9	2	22	8	3	0	1	0	0	0	1	0	4	0	2	1	7	3	3	1	7	1	0			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr20:57766775G>T	ENST00000371030.2	+	1	701	c.701G>T	c.(700-702)tGc>tTc	p.C234F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	234							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAGAGCAGGTGCCAGGGGATG	0.697																																					p.C234F													.	.			0			c.G701T												26	32	30					20																	57766775		1887	4115	6002	SO:0001583	missense	128611	exon1			GCAGGTGCCAGGG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.701G>T	20.37:g.57766775G>T	ENSP00000360069:p.Cys234Phe		37	0	0		56	0.05	3	NM_178457	0		0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	0.622	-0.820887	0.02755	.	.	ENSG00000124203	ENST00000371030	T	0.04406	3.63	3.64	-2.35	0.06684	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44375	-0.9332	9	0.49607	T	0.09	.	5.1695	0.15103	0.4752:0.1522:0.3726:0.0	.	234	Q5JPB2	ZN831_HUMAN	F	234	ENSP00000360069:C234F	ENSP00000360069:C234F	C	+	2	0	ZNF831	57200170	0.000000	0.05858	0.010000	0.14722	0.003000	0.03518	-1.294000	0.02767	-0.018000	0.14079	-0.224000	0.12420	TGC			0.697	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000079916.2		NM_178457		T	57766775	G	T	57766775	3	4	145	1	0	0	0	0	1	0	0	0	18208	1319	46	2	703	2	ZNF831	20	57766775	Missense_Mutation	SNP	G	TCGA-ZM-AA0F-01A-21D-A435-10		57766775	5258745	29	10661											
LAMA5	3911	mdanderson.org	37	chr20	60886347	60886347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgccgggcgggctgaCggctgcggcgggaggcctgg	4	4	22	11	5	0	1	0	1	0	0	0	3	0	3	2	8	2	2	2	8	0	0			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chr20:60886347C>T	ENST00000252999.3	-	73	10025	c.9959G>A	c.(9958-9960)cGt>cAt	p.R3320H	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3320					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)			GGCGGGCTGACGGCTGCGGCG	0.692																																					p.R3320H													.	.			0			c.G9959A												28	27	27					20																	60886347		2189	4283	6472	SO:0001583	missense	3911	exon73			GGCTGACGGCTGC	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.9959G>A	20.37:g.60886347C>T	ENSP00000252999:p.Arg3320His		58	0	0		63	0.05	3	NM_005560	5	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	14.62	2.589449	0.46214	.	.	ENSG00000130702	ENST00000252999	T	0.19669	2.13	4.6	1.35	0.21983	.	0.449907	0.20392	N	0.093237	T	0.14399	0.0348	L	0.47716	1.5	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.17623	-1.0363	10	0.52906	T	0.07	.	2.0538	0.03577	0.1586:0.4919:0.155:0.1945	.	3320	O15230	LAMA5_HUMAN	H	3320	ENSP00000252999:R3320H	ENSP00000252999:R3320H	R	-	2	0	LAMA5	60319742	0.960000	0.32886	0.817000	0.32601	0.096000	0.18686	0.475000	0.22164	0.931000	0.37242	0.486000	0.48141	CGT			0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080014.2		NM_005560		T	60886347	C	T	60886347	3	4	145	1	0	0	0	0	1	0	0	0	8624	536	19	1	1160	1	LAMA5	20	60886347	Missense_Mutation	SNP	C	TCGA-ZM-AA0F-01A-21D-A435-10	3119572	60886347	2139173	30	10662											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	11	4	10	16	0	0	0	0	0	0	0	0	0	0	0	2	0	11	8	2	0	1	1			TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				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)					TTgcagctgcagcagcagcag	0.607																																					p.Q597L													.	MAMLD1	263		0			c.A1790T												67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046	exon3			AGCTGCAGCAGCA	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.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu		139	0.0071942446	1		182	0.02	4	NM_005491	0		0	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG			0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000060844.2		NM_005491		T	149639635	A	T	149639635	3	4	145	1	0	0	0	0	1	0	0	0	9224	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-ZM-AA0F-01A-21D-A435-10		149639635	5630925	31	10663											
AVPR2	554	broad.mit.edu	37	chrX	153171699	153171710	+	In_Frame_Del	DEL	CGCCGCAGGGGA	CGCCGCAGGGGA	-																															catcagagaggcctggggggCgccgcaggggacgccggaca																								rs34709504|rs193922118|rs376722368|rs149668713	byFrequency	TCGA-ZM-AA0F-01A-21D-A435-10	TCGA-ZM-AA0F-10A-01D-A438-10	CGCCGCAGGGGA	CGCCGCAGGGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a8a23d5-716d-4e90-ab83-cfa3c3eccdad	29ee93c7-6fcd-4a76-bc26-beaa899b9be9	g.chrX:153171699_153171710delCGCCGCAGGGGA	ENST00000358927.2	+	3	948_959	c.739_750delCGCCGCAGGGGA	c.(739-750)cgccgcaggggadel	p.RRRG247del	AVPR2_ENST00000337474.5_In_Frame_Del_p.RRRG247del|AVPR2_ENST00000370049.1_In_Frame_Del_p.RRRG247del			P30518	V2R_HUMAN	arginine vasopressin receptor 2	247			Missing (in XNDI). {ECO:0000269|PubMed:1303257}.|R -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.R247_G250delRRRG(2)|p.R247H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	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)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCCTGGGGGGCGCCGCAGGGGACGCCGGACAG	0.646														2	0.000529801	0	0	3775	,	,		15181	0		0.002	False		,,,				2504	0				p.247_250del													.	AVPR2	43		3	Deletion - In frame(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	c.739_750del	GRCh37	CD920835|CD941610	AVPR2	D	rs149668713			,	18,3701		0,2,16,1589,521					,	1.1	0			63	22,6462		0,19,3,2338,1767	no	coding,coding	AVPR2	NM_001146151.1,NM_000054.4	,	0,21,19,3927,2288	A1A1,A1R,A1,RR,R		0.3393,0.484,0.392	,	,		40,10163				SO:0001651	inframe_deletion	0	exon2			GGGGGGCGCCGCA	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.739_750delCGCCGCAGGGGA	X.37:g.153171699_153171710delCGCCGCAGGGGA	ENSP00000351805:p.Arg247_Gly250del		50	0	0		71	0.17	12	NM_001146151	0		0	C5HF20|O43192|Q3MJD3|Q9UCV9	In_Frame_Del	DEL	ENST00000358927.2	37	CCDS14735.1																																																																																					0.646	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061127.2				-	153171710	CGCCGCAGGGGA	-	153171699	7	5	145	1	0	1	0	1	0	0	0	0	1233	768	27	0	745	0	AVPR2	23	153171699	In_Frame_Del	DEL	CGCCGCAGGGGA	TCGA-ZM-AA0F-01A-21D-A435-10	3532064	153171699	2098861	32	10664											
ATAD3B	83858	broad.mit.edu;ucsc.edu;mdanderson.org	37	chr1	1431185	1431185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgttctgccccccagggcaCcccctgttgtaggcactggc	4	8	11	18	1	1	0	0	0	1	0	1	0	1	0	6	3	1	5	6	3	1	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:1431185C>A	ENST00000308647.7	+	16	2051	c.1935C>A	c.(1933-1935)caC>caA	p.H645Q		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	645						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCCAGGGCACCCCCTGTTGT	0.642																																					p.H645Q													.	ATAD3B	68		0			c.C1935A												26	27	26					1																	1431185		2200	4294	6494	SO:0001583	missense	83858	exon16			AGGGCACCCCCTG	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1935C>A	1.37:g.1431185C>A	ENSP00000311766:p.His645Gln		22	0	0		34	0.15	5	NM_031921	438	0.23	100	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.	.	.	.	.	.	.	.	.	.	c	5.288	0.238450	0.10023	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.93604	-3.25	1.17	-1.87	0.07737	.	.	.	.	.	T	0.81664	0.4870	N	0.08118	0	0.09310	N	0.999997	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.68981	-0.5266	9	0.87932	D	0	.	2.5746	0.04803	0.0:0.4473:0.3112:0.2414	.	599;645	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	Q	479;645	ENSP00000311766:H645Q	ENSP00000311766:H645Q	H	+	3	2	ATAD3B	1421048	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.477000	0.22196	-0.491000	0.06697	0.194000	0.17425	CAC			0.642	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001369.2		NM_031921		A	1431185	C	A	1431185	3	1	146	1	0	0	0	0	1	0	0	0	1074	506	18	3	1997	3	ATAD3B	1	1431185	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10		1431185	247819436	1	10665											
PRDM16	63976	mdanderson.org	37	chr1	3328826	3328826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgactgcaacgggcgccGccggggactccatcaaggcc	7	5	14	15	4	1	1	1	1	0	0	2	2	2	2	4	4	3	2	4	4	2	0			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:3328826G>T	ENST00000270722.5	+	9	2114	c.2065G>T	c.(2065-2067)Gcc>Tcc	p.A689S	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Missense_Mutation_p.A690S|PRDM16_ENST00000514189.1_Missense_Mutation_p.A690S|PRDM16_ENST00000378391.2_Missense_Mutation_p.A689S|PRDM16_ENST00000442529.2_Missense_Mutation_p.A689S|PRDM16_ENST00000511072.1_Missense_Mutation_p.A690S|PRDM16_ENST00000441472.2_Missense_Mutation_p.A689S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	689	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				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)		AACGGGCGCCGCCGGGGACTC	0.647			T	EVI1	"MDS, AML"																																p.A689S				Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	.			0			c.G2065T												51	62	58					1																	3328826		2015	4163	6178	SO:0001583	missense	63976	exon9			GGCGCCGCCGGGG	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.2065G>T	1.37:g.3328826G>T	ENSP00000270722:p.Ala689Ser		41	0	0		40	0.08	3	NM_022114	0		0	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	4.046	0.006155	0.07866	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05258	3.49;3.51;3.52;3.51;3.5;3.51;3.52;3.47;3.47	4.73	2.81	0.32909	.	0.119832	0.35436	N	0.003214	T	0.06096	0.0158	L	0.50919	1.6	0.28265	N	0.924655	B;P;B;P	0.40638	0.053;0.725;0.131;0.605	B;B;B;B	0.36134	0.01;0.218;0.052;0.108	T	0.25328	-1.0135	10	0.20519	T	0.43	.	9.8707	0.41172	0.0765:0.1399:0.7836:0.0	.	689;689;689;689	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	S	690;690;689;689;689;690;689;505;505;498	ENSP00000426975:A690S;ENSP00000367651:A690S;ENSP00000407968:A689S;ENSP00000405253:A689S;ENSP00000367643:A689S;ENSP00000421400:A690S;ENSP00000270722:A689S;ENSP00000422504:A505S;ENSP00000425796:A498S	ENSP00000270722:A689S	A	+	1	0	PRDM16	3318686	0.996000	0.38824	0.015000	0.15790	0.039000	0.13416	3.450000	0.52957	0.576000	0.29452	0.603000	0.83216	GCC			0.647	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000001382.3		NM_022114		T	3328826	G	T	3328826	3	4	146	1	0	0	0	0	1	0	0	0	12477	1087	38	1	2099	1	PRDM16	1	3328826	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	1897641	3328826	245921795	2	10666											
TARDBP	23435	bcgsc.ca	37	chr1	11082189	11082189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcttatagattgcgcaGtctctttgtggagaggactt	8	17	10	6	1	2	2	0	0	2	2	3	4	2	3	0	2	1	1	0	2	3	7			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:11082189G>T	ENST00000240185.3	+	6	837	c.723G>T	c.(721-723)caG>caT	p.Q241H	TARDBP_ENST00000315091.3_Missense_Mutation_p.Q241H|TARDBP_ENST00000439080.2_Missense_Mutation_p.Q125H	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	241	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGATTGCGCAGTCTCTTTGTG	0.333																																					p.Q241H													.	TARDBP	31		0			c.G723T												81	79	80					1																	11082189		2203	4300	6503	SO:0001583	missense	23435	exon6			TGCGCAGTCTCTT	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.723G>T	1.37:g.11082189G>T	ENSP00000240185:p.Gln241His		92	0	0		62	0.06	4	NM_007375	29	0	0	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010377	0.54361	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	D;D;T	0.85861	-2.04;-2.04;2.3	5.81	-0.346	0.12620	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.107947	0.64402	D	0.000003	D	0.88009	0.6322	L	0.60957	1.885	0.80722	D	1	D;D	0.64830	0.994;0.984	D;D	0.66196	0.942;0.926	D	0.86025	0.1509	10	0.66056	D	0.02	-12.4509	10.7796	0.46369	0.3776:0.0:0.6224:0.0	.	125;241	B4DJ45;Q13148	.;TADBP_HUMAN	H	241;125;241	ENSP00000240185:Q241H;ENSP00000404666:Q125H;ENSP00000313129:Q241H	ENSP00000240185:Q241H	Q	+	3	2	TARDBP	11004776	1.000000	0.71417	0.997000	0.53966	0.723000	0.41478	0.821000	0.27338	-0.061000	0.13110	-1.105000	0.02106	CAG			0.333	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006063.1		NM_007375		T	11082189	G	T	11082189	3	4	146	1	0	0	0	0	1	0	0	0	15580	1020	36	3	741	3	TARDBP	1	11082189	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	7753363	11082189	238168432	3	10667											
WASF2	10163	broad.mit.edu	37	chr1	27736326	27736328	+	In_Frame_Del	DEL	GGA	GGA	-																															aagggggaggagggggccccGgaggaggaggaggaggggga																								rs150974534		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:27736326_27736328delGGA	ENST00000430629.2	-	8	1412_1414	c.1197_1199delTCC	c.(1195-1200)cctccg>ccg	p.399_400PP>P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	399	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		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;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGGGGGCCCCggaggaggaggag	0.64																																					p.399_400del													.	WASF2	41		0			c.1197_1199del																																									SO:0001651	inframe_deletion	10163	exon8			GGCCCCGGAGGAG	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1197_1199delTCC	1.37:g.27736335_27736337delGGA	ENSP00000396211:p.Pro400del		131	0	0		164	0	0	NM_006990	6	0	0	B4DZN0|O60794|Q9UDY7	In_Frame_Del	DEL	ENST00000430629.2	37	CCDS304.1																																																																																					0.64	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009516.1		NM_006990		-	27736328	GGA	-	27736326	7	5	146	1	0	1	0	1	0	0	0	0	17277	1116	39	0	305	0	WASF2	1	27736326	In_Frame_Del	DEL	GGA	TCGA-ZM-AA0H-01A-11D-A435-10	16654137	27736326	221514295	4	10668											
WASF2	10163	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	27736390	27736390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggacaagggaggtggtgGcagagttgggtagtcagctg	8	8	20	5	0	1	1	1	0	0	1	1	3	1	3	0	6	1	4	0	6	2	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:27736390G>A	ENST00000430629.2	-	8	1350	c.1135C>T	c.(1135-1137)Cca>Tca	p.P379S	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	379	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		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;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GGAGGTGGTGGCAGAGTTGGG	0.652																																					p.P379S													.	WASF2	41		0			c.C1135T												74	74	74					1																	27736390		2203	4300	6503	SO:0001583	missense	10163	exon8			GTGGTGGCAGAGT	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1135C>T	1.37:g.27736390G>A	ENSP00000396211:p.Pro379Ser		127	0.0078740157	1		183	0.14	25	NM_006990	7	0.14	1	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	CCDS304.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759213	0.49468	.	.	ENSG00000158195	ENST00000430629	T	0.52526	0.66	4.58	4.58	0.56647	.	0.669159	0.14181	N	0.336016	T	0.38241	0.1033	L	0.39245	1.2	0.80722	D	1	B	0.18013	0.025	B	0.19666	0.026	T	0.31613	-0.9937	10	0.51188	T	0.08	-4.0246	7.7598	0.28946	0.0902:0.1659:0.7439:0.0	.	379	Q9Y6W5	WASF2_HUMAN	S	379	ENSP00000396211:P379S	ENSP00000396211:P379S	P	-	1	0	WASF2	27608977	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	3.591000	0.53986	2.095000	0.63458	0.551000	0.68910	CCA			0.652	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009516.1		NM_006990		A	27736390	G	A	27736390	3	1	146	1	0	0	0	0	1	0	0	0	17277	1203	42	2	369	2	WASF2	1	27736390	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	64	27736390	221514231	5	10669											
AK2	204	bcgsc.ca	37	chr1	33476435	33476435	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccttctgatactaggCtgaaatagagaggaaacaag	14	8	11	8	0	1	3	0	2	1	1	1	5	1	4	2	3	2	1	2	3	6	4			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:33476435C>A	ENST00000373449.2	-	7	736		c.e7-1		RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000491241.1_Splice_Site|AK2_ENST00000548033.1_Splice_Site|AK2_ENST00000467905.1_Splice_Site	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGATACTAGGCTGAAATAGAG	0.507																																					.													.	AK2	27		0			c.695-1G>T												88	81	83					1																	33476435		2203	4300	6503	SO:0001630	splice_region_variant	204	exon8			ACTAGGCTGAAAT	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.695-1G>T	1.37:g.33476435C>A			45	0	0		32	0.19	6	NM_013411	5	0	0		Splice_Site	SNP	ENST00000373449.2	37	CCDS373.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798466	0.70567	.	.	ENSG00000004455	ENST00000373449;ENST00000548033	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8504	0.70292	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AK2	33249022	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.652000	0.54439	2.780000	0.95670	0.655000	0.94253	.			0.507	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000011884.1		NM_001625	Intron	A	33476435	C	A	33476435	5	1	146	1	0	0	0	0	0	0	1	0	440	811	28	2	8	2	AK2	1	33476435	Splice_Site	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	5740045	33476435	215774186	6	10670											
PTGER3	5733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	71512740	71512740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccgagcagcacagcgcggGtggcacgcgtcttcatgtgg	6	6	16	13	6	2	0	1	0	1	0	2	1	2	0	1	3	3	3	1	3	0	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:71512740G>A	ENST00000306666.5	-	1	731	c.521C>T	c.(520-522)aCc>aTc	p.T174I	PTGER3_ENST00000370932.2_Missense_Mutation_p.T174I|PTGER3_ENST00000351052.5_Missense_Mutation_p.T174I|PTGER3_ENST00000460330.1_Missense_Mutation_p.T174I|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000356595.4_Missense_Mutation_p.T174I|PTGER3_ENST00000414819.1_Missense_Mutation_p.T174I|PTGER3_ENST00000370931.3_Missense_Mutation_p.T174I|PTGER3_ENST00000354608.5_Missense_Mutation_p.T174I|PTGER3_ENST00000370924.4_Missense_Mutation_p.T174I	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	174					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CACAGCGCGGGTGGCACGCGT	0.716																																					p.T174I													.	.			0			c.C521T												16	17	17					1																	71512740		2196	4286	6482	SO:0001583	missense	5733	exon1			GCGCGGGTGGCAC	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.521C>T	1.37:g.71512740G>A	ENSP00000302313:p.Thr174Ile		45	0	0		59	0.15	9	NM_001126044	0		0	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	CCDS657.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111544	0.94339	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.047399	0.85682	D	0.000000	T	0.42245	0.1194	L	0.45137	1.4	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.79784	0.993;0.983;0.989;0.993;0.993;0.971;0.984;0.993	T	0.05209	-1.0899	10	0.20046	T	0.44	-35.3647	18.6995	0.91615	0.0:0.0:1.0:0.0	.	174;174;174;174;174;174;174;174	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	I	174	ENSP00000359969:T174I;ENSP00000359970:T174I;ENSP00000280208:T174I;ENSP00000418073:T174I;ENSP00000346624:T174I;ENSP00000349003:T174I;ENSP00000401423:T174I;ENSP00000302313:T174I;ENSP00000359962:T174I	ENSP00000302313:T174I	T	-	2	0	PTGER3	71285328	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.603000	0.82811	2.643000	0.89663	0.462000	0.41574	ACC			0.716	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000026076.1		NM_000957		A	71512740	G	A	71512740	3	1	146	1	0	0	0	0	1	0	0	0	12765	1261	44	3	970	3	PTGER3	1	71512740	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	38036305	71512740	177737881	7	10671											
AMY2A	279	broad.mit.edu	37	chr1	104160107	104160107	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattgggttctgctgggcTcagtattccccaaatacaca	10	11	8	12	0	2	0	1	0	1	0	3	0	3	0	3	2	2	4	3	2	3	5			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:104160107T>C	ENST00000414303.2	+	1	109	c.45T>C	c.(43-45)gcT>gcC	p.A15A		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	15					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TCTGCTGGGCTCAGTATTCCC	0.398																																					p.A15A													.	AMY2A	36		0			c.T45C												92	78	83					1																	104160107		2200	4258	6458	SO:0001819	synonymous_variant	279	exon1			CTGGGCTCAGTAT	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.45T>C	1.37:g.104160107T>C			468	0	0		668	0.01	8	NM_000699	1	0	0	B9EJG1|Q9UBH3	Silent	SNP	ENST00000414303.2	37	CCDS783.1	.	.	.	.	.	.	.	.	.	.	t	2.822	-0.244482	0.05906	.	.	ENSG00000243480	ENST00000423678	.	.	.	3.22	-1.05	0.10036	.	.	.	.	.	T	0.21761	0.0524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32666	-0.9898	4	.	.	.	.	0.0536	0.00013	0.2919:0.2275:0.2249:0.2557	.	.	.	.	P	14	.	.	S	+	1	0	AMY2A	103961630	0.144000	0.22641	0.997000	0.53966	0.220000	0.24768	-0.636000	0.05465	0.019000	0.15079	0.374000	0.22700	TCA			0.398	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030315.1		NM_000699		C	104160107	T	C	104160107	2	2	146	1	0	0	0	0	0	0	0	1	594	1538	54	4		4	AMY2A	1	104160107	Silent	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10	32647367	104160107	145090514	8	10672											
NTNG1	22854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	107866930	107866930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacatgtgcaataatgaGtgtgatgcgagtacccctga	11	10	10	10	1	0	3	0	3	0	0	0	4	0	3	3	0	4	2	3	0	4	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:107866930G>A	ENST00000370068.1	+	3	1119	c.273G>A	c.(271-273)gaG>gaA	p.E91E	NTNG1_ENST00000370067.1_Silent_p.E91E|NTNG1_ENST00000370065.1_Silent_p.E91E|NTNG1_ENST00000542803.1_Silent_p.E91E|NTNG1_ENST00000370066.1_Silent_p.E91E|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370061.3_Silent_p.E91E|NTNG1_ENST00000370071.2_Silent_p.E91E|NTNG1_ENST00000370072.3_Silent_p.E91E|NTNG1_ENST00000370073.2_Silent_p.E91E|NTNG1_ENST00000370070.2_Silent_p.E91E|NTNG1_ENST00000370074.4_Silent_p.E91E			Q9Y2I2	NTNG1_HUMAN	netrin G1	91	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.|NGL discriminant loop I.				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)		GCAATAATGAGTGTGATGCGA	0.483																																					p.E91E													.	.			0			c.G273A												252	254	254					1																	107866930		2203	4300	6503	SO:0001819	synonymous_variant	22854	exon3			TAATGAGTGTGAT	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.273G>A	1.37:g.107866930G>A			140	0	0		184	0.07	12	NM_014917	7	0	0	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	CCDS44180.1																																																																																					0.483	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000030340.1		NM_014917		A	107866930	G	A	107866930	2	1	146	1	0	0	0	0	0	0	0	1	10721	1020	36	3		3	NTNG1	1	107866930	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	3706823	107866930	141383691	9	10673											
C1orf161	126868	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	116670202	116670202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccaccacctggtccaaGaaagcccggtggcctcgatg	9	6	10	16	2	0	1	0	0	0	1	3	2	2	1	7	3	1	0	7	3	2	0			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:116670202G>T	ENST00000369500.3	+	5	862	c.597G>T	c.(595-597)aaG>aaT	p.K199N	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	199										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CCTGGTCCAAGAAAGCCCGGT	0.587																																					p.K199N													.	.			0			c.G597T												80	73	75					1																	116670202		2203	4300	6503	SO:0001583	missense	126868	exon5			GTCCAAGAAAGCC	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.597G>T	1.37:g.116670202G>T	ENSP00000358512:p.Lys199Asn		125	0	0		186	0.09	16	NM_152367	0		0	Q5TDL7	Missense_Mutation	SNP	ENST00000369500.3	37	CCDS886.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680300	0.47886	.	.	ENSG00000173212	ENST00000369500	T	0.09350	2.99	5.92	2.87	0.33458	.	1.727610	0.02771	N	0.119682	T	0.05273	0.0140	L	0.57536	1.79	0.25333	N	0.989016	B	0.27316	0.175	B	0.27608	0.081	T	0.41413	-0.9510	10	0.27785	T	0.31	-15.2362	9.8614	0.41116	0.0698:0.2623:0.6679:0.0	.	199	Q8N8X9	MB213_HUMAN	N	199	ENSP00000358512:K199N	ENSP00000358512:K199N	K	+	3	2	MAB21L3	116471725	0.965000	0.33210	0.670000	0.29842	0.739000	0.42172	1.465000	0.35299	0.807000	0.34208	0.650000	0.86243	AAG			0.587	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033486.1		NM_152367		T	116670202	G	T	116670202	3	4	146	1	0	0	0	0	1	0	0	0	2011	933	33	3	611	3	C1orf161	1	116670202	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	8803272	116670202	132580419	10	10674											
PAQR6	79957	broad.mit.edu;mdanderson.org	37	chr1	156216033	156216033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagacatgatgccatcttcCcagaacacctagggtagtgg	11	8	10	12	0	1	3	0	1	1	2	2	3	2	3	4	2	2	1	4	2	3	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:156216033C>A	ENST00000292291.5	-	3	218	c.60G>T	c.(58-60)tgG>tgT	p.W20C	PAQR6_ENST00000540423.1_Missense_Mutation_p.W17C|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_5'UTR|PAQR6_ENST00000368270.1_5'UTR|PAQR6_ENST00000356983.2_5'UTR	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	20						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					TGCCATCTTCCCAGAACACCT	0.592																																					p.W20C	GBM(16;219 398 12385 32425 38531)												.	PAQR6	23		0			c.G60T												82	79	80					1																	156216033		2203	4300	6503	SO:0001583	missense	79957	exon3			ATCTTCCCAGAAC	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.60G>T	1.37:g.156216033C>A	ENSP00000292291:p.Trp20Cys		44	0	0		66	0.06	4	NM_001272104	7	0.14	1	B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	CCDS1136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.972744|4.972744	0.92919|0.92919	.|.	.|.	ENSG00000160781|ENSG00000160781	ENST00000340183|ENST00000292291;ENST00000540423	.|T;T	.|0.23754	.|1.91;1.89	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.454930|.	0.23191|.	N|.	0.050911|.	.|T	.|0.28499	.|0.0705	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.56968	.|0.978;0.978	.|P;P	.|0.57776	.|0.827;0.827	.|T	.|0.02457	.|-1.1156	.|9	0.87932|0.72032	D|D	0|0.01	-18.1781|-18.1781	18.2012|18.2012	0.89839|0.89839	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|17;20	.|B7Z9R9;Q6TCH4	.|.;PAQR6_HUMAN	X|C	37|20;17	.|ENSP00000292291:W20C;ENSP00000443167:W17C	ENSP00000341926:G37X|ENSP00000292291:W20C	G|W	-|-	1|3	0|0	PAQR6|PAQR6	154482657|154482657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.139000|2.139000	0.42149|0.42149	2.643000|2.643000	0.89663|0.89663	0.462000|0.462000	0.41574|0.41574	GGA|TGG			0.592	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000046297.2		NM_024897		A	156216033	C	A	156216033	3	1	146	1	0	0	0	0	1	0	0	0	11456	624	22	3	1337	3	PAQR6	1	156216033	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	39545831	156216033	93034588	11	10675											
DARS2	55157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	173802622	173802622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaaaatgcgggaatatCtctgtaatctgcatggtaag	13	12	10	6	1	3	1	1	1	2	0	4	2	3	2	0	2	2	3	0	2	6	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:173802622C>A	ENST00000361951.4	+	6	1328	c.601C>A	c.(601-603)Ctc>Atc	p.L201I	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	201					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GCGGGAATATCTCTGTAATCT	0.428																																					p.L201I													.	.			0			c.C601A												109	101	104					1																	173802622		2203	4300	6503	SO:0001583	missense	55157	exon6			GAATATCTCTGTA	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.601C>A	1.37:g.173802622C>A	ENSP00000355086:p.Leu201Ile		56	0	0		66	0.11	7	NM_018122	0		0		Missense_Mutation	SNP	ENST00000361951.4	37	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	C	35	5.471421	0.96274	.	.	ENSG00000117593	ENST00000361951	D	0.84800	-1.9	5.94	5.94	0.96194	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	N	0.02345	-0.59	0.80722	D	1	D	0.54397	0.966	P	0.52909	0.713	T	0.83357	-0.0000	10	0.87932	D	0	-8.7424	19.1306	0.93404	0.0:1.0:0.0:0.0	.	201	Q6PI48	SYDM_HUMAN	I	201	ENSP00000355086:L201I	ENSP00000355086:L201I	L	+	1	0	DARS2	172069245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.065000	0.71176	2.816000	0.96949	0.561000	0.74099	CTC			0.428	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084220.1		NM_018122		A	173802622	C	A	173802622	3	1	146	1	0	0	0	0	1	0	0	0	4244	913	32	3	623	3	DARS2	1	173802622	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	17586589	173802622	75447999	12	10676											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179851685	179851685	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgcgggaaggatggggTgtgtacgtcacccccagggc	6	6	19	10	3	1	0	1	0	0	0	1	2	1	2	2	6	2	1	2	6	2	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:179851685T>G	ENST00000606911.2	+	1	239	c.48T>G	c.(46-48)ggT>ggG	p.G16G	TOR1AIP1_ENST00000528443.2_Silent_p.G16G|TOR1AIP1_ENST00000271583.3_Silent_p.G16G|TOR1AIP1_ENST00000435319.4_5'Flank|RP11-533E19.7_ENST00000610272.1_lincRNA			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	16					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						AAGGATGGGGTGTGTACGTCA	0.647																																					p.G16G													.	TOR1AIP1	58		0			c.T48G												10	9	10					1																	179851685		2175	4267	6442	SO:0001819	synonymous_variant	26092	exon1			ATGGGGTGTGTAC		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.48T>G	1.37:g.179851685T>G			39	0.2307692308	9		46	0.37	17	NM_001267578	2	0.5	1	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	CCDS1335.1																																																																																					0.647	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000100313.4		NM_015602		G	179851685	T	G	179851685	2	3	146	1	0	0	0	0	0	0	0	1	16396	1683	59	4		4	TOR1AIP1	1	179851685	Silent	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10	6049063	179851685	69398936	13	10677											
OR2L3	391192	hgsc.bcm.edu	37	chr1	248224864	248224864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctatagcctgaggaacaAggaggtgatgggggccctga	11	7	15	8	0	1	3	0	3	1	0	1	5	1	5	2	5	2	0	2	5	4	2	rs543066146		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr1:248224864A>G	ENST00000359959.3	+	1	881	c.881A>G	c.(880-882)aAg>aGg	p.K294R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	294						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)			CTGAGGAACAAGGAGGTGATG	0.502													a|||	1	0.000199681	0	0	5008	,	,		18589	0.001		0	False		,,,				2504	0				p.K294R													OR2L3,NS,carcinoma,+1,1	OR2L3	1	1	0			c.A881G												56	57	57					1																	248224864		2203	4300	6503	SO:0001583	missense	391192	exon1			GGAACAAGGAGGT	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.881A>G	1.37:g.248224864A>G	ENSP00000353044:p.Lys294Arg		53	0.0188679245	1		66	0.06	4	NM_001004687	0		0	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	A	9.463	1.093601	0.20471	.	.	ENSG00000198128	ENST00000359959	T	0.41065	1.01	2.01	-0.867	0.10655	.	.	.	.	.	T	0.36054	0.0953	M	0.63169	1.94	0.23762	N	0.996914	B	0.21821	0.061	B	0.23852	0.049	T	0.32348	-0.9910	9	0.37606	T	0.19	.	6.329	0.21259	0.7597:0.0:0.2403:0.0	.	294	Q8NG85	OR2L3_HUMAN	R	294	ENSP00000353044:K294R	ENSP00000353044:K294R	K	+	2	0	OR2L3	246291487	0.000000	0.05858	0.908000	0.35775	0.606000	0.37113	0.414000	0.21164	-0.373000	0.07979	-0.475000	0.04921	AAG			0.502	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096852.1		NM_001004687		G	248224864	A	G	248224864	3	3	146	1	0	0	0	0	1	0	0	0	11025	72	3	4	883	4	OR2L3	1	248224864	Missense_Mutation	SNP	A	TCGA-ZM-AA0H-01A-11D-A435-10	68373179	248224864	1025757	14	10678											
YWHAQ	10971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	9727624	9727624	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtatcaagttcagcaatGgcctcatcaaaagcctgata	14	10	8	9	0	4	1	4	1	0	0	4	1	4	1	2	1	2	3	2	1	6	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr2:9727624G>A	ENST00000381844.4	-	4	760	c.597C>T	c.(595-597)gcC>gcT	p.A199A	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Silent_p.A199A			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	199					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GTTCAGCAATGGCCTCATCAA	0.343																																					p.A199A													.	.			0			c.C597T												102	93	96					2																	9727624		2203	4300	6503	SO:0001819	synonymous_variant	10971	exon5			AGCAATGGCCTCA	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"protein tau"	609009	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.597C>T	2.37:g.9727624G>A			145	0	0		166	0.12	20	NM_006826	117	0.12	14	D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Silent	SNP	ENST00000381844.4	37	CCDS1666.1																																																																																					0.343	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039014.4		NM_006826		A	9727624	G	A	9727624	2	1	146	1	0	0	0	0	0	0	0	1	17529	1335	47	3		3	YWHAQ	2	9727624	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		9727624	233471749	15	10679											
HEATR5B	54497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	37235845	37235845	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaggcgactgagtgttggTagttcaggttgtaccagtgt	8	12	14	7	1	1	1	1	1	0	0	1	2	1	1	1	3	1	5	1	3	2	5			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr2:37235845T>C	ENST00000233099.5	-	28	4526	c.4431A>G	c.(4429-4431)ctA>ctG	p.L1477L	HEATR5B_ENST00000354531.2_Silent_p.L1477L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1477						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)				TGAGTGTTGGTAGTTCAGGTT	0.413																																					p.L1477L													.	.			0			c.A4431G												243	203	217					2																	37235845		2203	4300	6503	SO:0001819	synonymous_variant	54497	exon28			TGTTGGTAGTTCA	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.4431A>G	2.37:g.37235845T>C			93	0	0		81	0.1	8	NM_019024	41	0.2	8	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																					0.413	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325492.1		NM_019024		C	37235845	T	C	37235845	2	2	146	1	0	0	0	0	0	0	0	1	7047	1625	57	4		4	HEATR5B	2	37235845	Silent	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10	27508221	37235845	205963528	16	10680											
MTIF2	4528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	55479643	55479643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggcatgctgaatagattCtacagtttgtttcatcactc	9	17	7	8	0	3	2	2	1	1	1	4	2	3	2	0	1	2	4	0	1	3	6			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr2:55479643C>T	ENST00000263629.4	-	8	1126	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	MTIF2_ENST00000394600.3_Missense_Mutation_p.E271K|MTIF2_ENST00000446660.1_5'Flank|MTIF2_ENST00000403721.1_Missense_Mutation_p.E271K	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	271	tr-type G.				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						TGAATAGATTCTACAGTTTGT	0.438																																					p.E271K													.	.			0			c.G811A												156	135	142					2																	55479643		2203	4300	6503	SO:0001583	missense	4528	exon8			TAGATTCTACAGT	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.811G>A	2.37:g.55479643C>T	ENSP00000263629:p.Glu271Lys		160	0	0		171	0.18	30	NM_002453	17	0.06	1	D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	37	6.004867	0.97195	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.73258	-0.73;-0.73;-0.73	6.07	6.07	0.98685	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93344	0.6712	10	0.87932	D	0	-32.098	20.6593	0.99626	0.0:1.0:0.0:0.0	.	271	P46199	IF2M_HUMAN	K	271	ENSP00000384481:E271K;ENSP00000263629:E271K;ENSP00000378099:E271K	ENSP00000263629:E271K	E	-	1	0	MTIF2	55333147	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	7.346000	0.79347	2.885000	0.99019	0.655000	0.94253	GAA			0.438	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251486.4		NM_002453		T	55479643	C	T	55479643	3	4	146	1	0	0	0	0	1	0	0	0	9950	922	32	3	1408	3	MTIF2	2	55479643	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	18243798	55479643	187719730	17	10681											
POTEE	445582	broad.mit.edu	37	chr2	132021542	132021542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtacgtggccatccaggcCgtgccgtccctgtacacctc	6	9	10	16	3	0	0	0	0	0	0	3	0	2	0	6	2	3	2	6	2	2	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr2:132021542C>T	ENST00000356920.5	+	15	2608	c.2514C>T	c.(2512-2514)gcC>gcT	p.A838A	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	838	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCATCCAGGCCGTGCCGTCCC	0.607																																					p.A838A													.	.			0			c.C2514T												153	155	154					2																	132021542		2203	4300	6503	SO:0001819	synonymous_variant	445582	exon15			CCAGGCCGTGCCG	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.2514C>T	2.37:g.132021542C>T			113	0.0088495575	1		128	0.04	5	NM_001083538	0		0	Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	CCDS46414.1																																																																																					0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001083538		T	132021542	C	T	132021542	2	4	146	1	0	0	0	0	0	0	0	1	12281	639	23	1		1	POTEE	2	132021542	Silent	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	76541899	132021542	111177831	18	10682											
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr2	141093382	141093382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagtcaactgcaatgTccctgggccttttaaattca	10	11	6	14	0	2	0	2	0	0	0	3	0	3	0	4	1	2	1	4	1	4	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr2:141093382T>C	ENST00000389484.3	-	78	12889	c.11918A>G	c.(11917-11919)gAc>gGc	p.D3973G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3973					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)		AACTGCAATGTCCCTGGGCCT	0.418										TSP Lung(27;0.18)																											p.D3973G	Colon(99;50 2074 2507 20106)												.	.			0			c.A11918G												104	101	102					2																	141093382		2203	4300	6503	SO:0001583	missense	53353	exon78			GCAATGTCCCTGG	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.11918A>G	2.37:g.141093382T>C	ENSP00000374135:p.Asp3973Gly		144	0	0		117	0.11	13	NM_018557	0		0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.665|9.665	1.145257|1.145257	0.21288|0.21288	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.87729|.	-2.29|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.062850|.	0.64402|.	D|.	0.000009|.	T|T	0.32912|0.32912	0.0845|0.0845	N|N	0.05330|0.05330	-0.07|-0.07	0.42144|0.42144	D|D	0.991524|0.991524	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.23226|0.23226	-1.0194|-1.0194	10|5	0.02654|.	T|.	1|.	.|.	8.0279|8.0279	0.30448|0.30448	0.0:0.1574:0.0:0.8426|0.0:0.1574:0.0:0.8426	.|.	3973|.	Q9NZR2|.	LRP1B_HUMAN|.	G|A	3973;3911|205	ENSP00000374135:D3973G|.	ENSP00000374135:D3973G|.	D|T	-|-	2|1	0|0	LRP1B|LRP1B	140809852|140809852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.731000|4.731000	0.62022|0.62022	2.180000|2.180000	0.69256|0.69256	0.528000|0.528000	0.53228|0.53228	GAC|ACA			0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254736.2		NM_018557		C	141093382	T	C	141093382	3	2	146	1	0	0	0	0	1	0	0	0	8971	1667	58	4	1937	4	LRP1B	2	141093382	Missense_Mutation	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10	9071840	141093382	102105991	19	10683											
DNAJC10	54431	mdanderson.org	37	chr2	183583004	183583004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcattgaagttacatcCtgataaaaacccggtaggta	14	11	9	7	1	0	2	0	2	0	0	1	2	1	2	2	3	2	4	2	3	7	6			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr2:183583004C>A	ENST00000264065.7	+	3	606	c.191C>A	c.(190-192)cCt>cAt	p.P64H	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.P64H	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	64	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGTTACATCCTGATAAAAAC	0.303																																					p.P64H	Pancreas(56;860 1183 25669 35822 48585)												.	.			0			c.C191A												64	66	66					2																	183583004		2200	4300	6500	SO:0001583	missense	54431	exon3			TACATCCTGATAA		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.191C>A	2.37:g.183583004C>A	ENSP00000264065:p.Pro64His		21	0	0		35	0.09	3	NM_001271581	3	0	0	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999946	0.74818	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	D;D	0.89875	-2.58;-2.58	5.37	4.49	0.54785	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	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	0.97953	1.0333	10	0.87932	D	0	.	13.4426	0.61123	0.0:0.9244:0.0:0.0756	.	64;64	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	H	64	ENSP00000264065:P64H;ENSP00000441560:P64H	ENSP00000264065:P64H	P	+	2	0	DNAJC10	183291249	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.715000	0.84713	1.408000	0.46895	-0.142000	0.14014	CCT			0.303	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334418.2		NM_018981		A	183583004	C	A	183583004	3	1	146	1	0	0	0	0	1	0	0	0	4634	681	24	3	193	3	DNAJC10	2	183583004	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	42489622	183583004	59616369	20	10684											
PECR	55825	mdanderson.org	37	chr2	216930061	216930061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatgtagaaggtacccGtcaggttggtctcaagcaca	11	9	11	10	1	2	1	2	0	1	1	3	1	2	1	1	3	3	5	1	3	4	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr2:216930061G>A	ENST00000265322.7	-	3	472	c.398C>T	c.(397-399)aCg>aTg	p.T133M	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	133					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GAAGGTACCCGTCAGGTTGGT	0.453																																					p.T133M													.	.			0			c.C398T												141	134	136					2																	216930061		2203	4300	6503	SO:0001583	missense	55825	exon3			GTACCCGTCAGGT	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18281	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 29C, member 1"	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.398C>T	2.37:g.216930061G>A	ENSP00000265322:p.Thr133Met		73	0	0		61	0.07	4	NM_018441	1	0	0	B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493912	0.84962	.	.	ENSG00000115425	ENST00000265322	T	0.42513	0.97	5.8	5.8	0.92144	Apoptosis regulator, Bcl-2, BH (1);NAD(P)-binding domain (1);	0.045311	0.85682	D	0.000000	T	0.60625	0.2283	L	0.52364	1.645	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58634	-0.7602	10	0.54805	T	0.06	.	17.5644	0.87916	0.0:0.0:1.0:0.0	.	133;133	B4DJS2;Q9BY49	.;PECR_HUMAN	M	133	ENSP00000265322:T133M	ENSP00000265322:T133M	T	-	2	0	PECR	216638306	1.000000	0.71417	0.960000	0.40013	0.968000	0.65278	4.944000	0.63561	2.744000	0.94065	0.655000	0.94253	ACG			0.453	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337277.1		NM_018441		A	216930061	G	A	216930061	3	1	146	1	0	0	0	0	1	0	0	0	11734	1145	40	1	537	1	PECR	2	216930061	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	33347057	216930061	26269312	21	10685											
ATP2B2	491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	10417235	10417235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcacgtagacgggcgtgCactcaggcagccacggcttc	8	6	13	14	4	1	1	1	0	0	1	2	1	1	1	1	3	3	5	1	3	1	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr3:10417235C>G	ENST00000352432.4	-	10	1364	c.1295G>C	c.(1294-1296)tGc>tCc	p.C432S	ATP2B2_ENST00000397077.1_Missense_Mutation_p.C387S|ATP2B2_ENST00000383800.4_Missense_Mutation_p.C387S|ATP2B2_ENST00000360273.2_Missense_Mutation_p.C432S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.C418S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	432					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						GACGGGCGTGCACTCAGGCAG	0.582																																					p.C432S	Ovarian(125;1619 1709 15675 19819 38835)												.	.			0			c.G1295C												88	76	80					3																	10417235		2203	4300	6503	SO:0001583	missense	491	exon11			GGCGTGCACTCAG	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.1295G>C	3.37:g.10417235C>G	ENSP00000324172:p.Cys432Ser		116	0	0		120	0.12	14	NM_001001331	0		0	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415270	0.83449	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.88;-2.88	4.48	4.48	0.54585	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	L	0.31845	0.965	0.80722	D	1	D;B;P	0.60160	0.987;0.198;0.798	D;B;P	0.73708	0.981;0.222;0.45	D	0.92372	0.5906	10	0.33141	T	0.24	-19.6971	17.3813	0.87405	0.0:1.0:0.0:0.0	.	367;399;432	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	S	432;387;387;432;418;367;288;432	ENSP00000324172:C432S;ENSP00000373311:C387S;ENSP00000380267:C387S;ENSP00000353414:C432S;ENSP00000344677:C418S;ENSP00000414854:C288S	ENSP00000342954:C432S	C	-	2	0	ATP2B2	10392235	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.651000	0.83577	2.323000	0.78572	0.561000	0.74099	TGC			0.582	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000250576.2		NM_001683		G	10417235	C	G	10417235	3	3	146	1	0	0	0	0	1	0	0	0	1140	710	25	5	2488	5	ATP2B2	3	10417235	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10		10417235	187605195	22	10686											
SLITRK3	22865	broad.mit.edu	37	chr3	164905991	164905991	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgccactaccacagccTcccccaggaggaaacagcac	13	4	7	17	0	0	0	0	0	0	0	1	2	1	2	5	2	6	1	5	2	3	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr3:164905991T>C	ENST00000475390.1	-	2	3071	c.2628A>G	c.(2626-2628)ggA>ggG	p.G876G	SLITRK3_ENST00000241274.3_Silent_p.G876G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	876					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						TACCACAGCCTCCCCCAGGAG	0.567										HNSCC(40;0.11)																											p.G876G													SLITRK3,NS,carcinoma,-1,1	SLITRK3	263	1	0			c.A2628G												56	53	54					3																	164905991		2203	4300	6503	SO:0001819	synonymous_variant	22865	exon2			ACAGCCTCCCCCA	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.2628A>G	3.37:g.164905991T>C			70	0	0		93	0.04	4	NM_014926	0		0	Q1RMY6	Silent	SNP	ENST00000475390.1	37	CCDS3197.1																																																																																					0.567	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350126.1		NM_014926		C	164905991	T	C	164905991	2	2	146	1	0	0	0	0	0	0	0	1	14767	1538	54	4		4	SLITRK3	3	164905991	Silent	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10	154488756	164905991	33116439	23	10687											
HTT	3064	broad.mit.edu	37	chr4	3076603	3076604	+	In_Frame_Ins	INS	-	-	CAG																															tcgagtccctcaagtccttcINScagcagcagcagcagcagca																								rs71180116|rs374076986	byFrequency	TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr4:3076603_3076604insCAG	ENST00000355072.5	+	1	196_197	c.51_52insCAG	c.(52-54)cag>CAGcag	p.18_18Q>QQ	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	18	Poly-Gln.		Q -> QQQ.		anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCAAGTCCTTCcagcagcagca	0.708																																					p.F17delinsFQ													.	HTT	221		0			c.51_52insCAG																																									SO:0001652	inframe_insertion	3064	exon1			GTCCTTCCAGCAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.106_108dupCAG	4.37:g.3076610_3076612dupCAG	ENSP00000347184:p.Gln38dup		6	0	0		8	0.38	3	NM_002111	0		0	Q9UQB7	In_Frame_Ins	INS	ENST00000355072.5	37	CCDS43206.1																																																																																					0.708	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358234.2		NM_002111		CAG	3076604	-	CAG	3076603	7	5	146	1	0	1	1	0	0	0	0	0	7472	854	30	0	53	0	HTT	4	3076603	In_Frame_Ins	INS	-	TCGA-ZM-AA0H-01A-11D-A435-10		3076603	188077673	24	10688											
LIMCH1	22998	broad.mit.edu	37	chr4	41615586	41615586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctctcctcctcgccacgGcagagatgattccttcgaca	7	10	7	17	3	1	2	0	1	1	1	7	4	4	2	5	1	0	1	5	1	0	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr4:41615586G>T	ENST00000313860.7	+	7	644	c.590G>T	c.(589-591)gGc>gTc	p.G197V	LIMCH1_ENST00000509277.1_Missense_Mutation_p.G43V|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G197V|LIMCH1_ENST00000509638.1_Missense_Mutation_p.G38V|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G197V|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G197V|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G38V|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G50V|LIMCH1_ENST00000509454.1_Missense_Mutation_p.G45V|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G43V|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G38V|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G197V|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G43V|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G38V	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	197					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTCGCCACGGCAGAGATGAT	0.562																																					p.G197V													.	LIMCH1	233		0			c.G590T												84	77	80					4																	41615586		2203	4300	6503	SO:0001583	missense	22998	exon7			GCCACGGCAGAGA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.590G>T	4.37:g.41615586G>T	ENSP00000316891:p.Gly197Val		111	0	0		108	0.04	4	NM_014988	0		0	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.419620|4.419620	0.83559|0.83559	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000446625;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.47528	.|0.87;1.46;1.46;1.47;0.89;1.48;0.84;0.85;0.87;0.88;0.85;0.88	5.59|5.59	4.69|4.69	0.59074|0.59074	.|.	.|0.151764	.|0.64402	.|D	.|0.000017	T|T	0.59307|0.59307	0.2184|0.2184	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;P;D;D;D;D;D;D	.|0.89917	.|0.972;0.996;0.984;0.984;0.617;0.992;0.964;1.0;0.999;0.997;1.0	.|P;D;D;P;B;P;P;D;D;D;D	.|0.97110	.|0.825;0.937;0.915;0.885;0.173;0.864;0.79;1.0;0.986;0.97;0.999	T|T	0.60291|0.60291	-0.7292|-0.7292	5|10	.|0.54805	.|T	.|0.06	-21.2087|-21.2087	15.9486|15.9486	0.79813|0.79813	0.0:0.1349:0.8651:0.0|0.0:0.1349:0.8651:0.0	.|.	.|43;197;43;43;45;38;38;197;197;197;197	.|E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	S|V	32|38;38;197;197;197;197;197;38;38;38;37;50;43;45;43;43	.|ENSP00000425222:G38V;ENSP00000424825:G197V;ENSP00000424645:G197V;ENSP00000316891:G197V;ENSP00000427045:G197V;ENSP00000424437:G197V;ENSP00000425631:G38V;ENSP00000421242:G38V;ENSP00000426334:G50V;ENSP00000422864:G43V;ENSP00000379840:G43V;ENSP00000371172:G43V	.|ENSP00000316891:G197V	A|G	+|+	1|2	0|0	LIMCH1|LIMCH1	41310343|41310343	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.953000|0.953000	0.61014|0.61014	4.977000|4.977000	0.63792|0.63792	2.622000|2.622000	0.88805|0.88805	0.561000|0.561000	0.74099|0.74099	GCA|GGC			0.562	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000361249.2		NM_014988		T	41615586	G	T	41615586	3	4	146	1	0	0	0	0	1	0	0	0	8812	1203	42	2	644	2	LIMCH1	4	41615586	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	38538983	41615586	149538690	25	10689											
BEND4	389206	broad.mit.edu;mdanderson.org	37	chr4	42145560	42145560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgtcctcctcctcctcCtcttctggcagtgtagatga	4	14	7	16	1	2	2	0	1	2	1	9	2	8	2	6	1	0	2	6	1	1	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr4:42145560C>T	ENST00000502486.1	-	3	1518	c.939G>A	c.(937-939)gaG>gaA	p.E313E	BEND4_ENST00000504360.1_Silent_p.E309E	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	313										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						cctcctcctcctcttcTGGCA	0.512																																					p.E313E													.	BEND4	67		0			c.G939A												44	40	41					4																	42145560		2021	4172	6193	SO:0001819	synonymous_variant	389206	exon3			CTCCTCCTCTTCT	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.939G>A	4.37:g.42145560C>T			95	0	0		79	0.05	4	NM_001159547	3	0	0	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	CCDS47048.1																																																																																					0.512	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360975.2		NM_207406		T	42145560	C	T	42145560	2	4	146	1	0	0	0	0	0	0	0	1	1400	680	24	3		3	BEND4	4	42145560	Silent	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	529974	42145560	149008716	26	10690											
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	55602664	55602664	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgttgtgcttctattacagGctcgactacctgtgaagtgg	7	14	11	9	1	1	1	0	1	1	0	2	2	1	1	1	2	3	3	1	2	4	5			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr4:55602664G>C	ENST00000288135.5	+	18	2582	c.2485G>C	c.(2485-2487)Gct>Cct	p.A829P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	829	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> P (in a germ cell tumor of the testis; somatic mutation). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A829P(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTATTACAGGCTCGACTACC	0.398		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.A829P			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	KIT,caecum,carcinoma,0,3	KIT	0	3	1	Substitution - Missense(1)	testis(1)	c.G2485C												106	104	105					4																	55602664		2203	4300	6503	SO:0001630	splice_region_variant	3815	exon18	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	TTACAGGCTCGAC	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2485-1G>C	4.37:g.55602664G>C			72	0	0		74	0.24	18	NM_000222	11	0.82	9	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811778	0.70797	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.89343	-2.5;-2.5	5.7	5.7	0.88788	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.105093	0.41823	D	0.000804	D	0.88407	0.6428	N	0.12961	0.28	0.80722	D	1	D;D	0.63046	0.992;0.988	P;P	0.60117	0.808;0.869	D	0.87132	0.2197	9	.	.	.	.	19.4515	0.94869	0.0:0.0:1.0:0.0	.	825;829	P10721-2;P10721	.;KIT_HUMAN	P	829;825	ENSP00000288135:A829P;ENSP00000390987:A825P	.	A	+	1	0	KIT	55297421	1.000000	0.71417	0.991000	0.47740	0.020000	0.10135	7.910000	0.87451	2.683000	0.91414	0.655000	0.94253	GCT			0.398	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1			Missense_Mutation	C	55602664	G	C	55602664	5	2	146	1	0	0	0	0	0	0	1	0	8344	1217	42	5	2555	5	KIT	4	55602664	Splice_Site	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	13457104	55602664	135551612	27	10691											
LARP7	51574	mdanderson.org	37	chr4	113575239	113575239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggtgatcacgaacaaaGgtattggcagaagattttgg	14	11	12	4	1	1	3	1	1	0	2	1	4	1	3	0	4	1	2	0	4	5	5			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr4:113575239G>T	ENST00000344442.5	+	12	1870	c.1592G>T	c.(1591-1593)aGg>aTg	p.R531M	LARP7_ENST00000509061.1_Missense_Mutation_p.R538M|LARP7_ENST00000324052.6_Missense_Mutation_p.R531M	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	531					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CACGAACAAAGGTATTGGCAG	0.333																																					p.R538M													.	.			0			c.G1613T												150	154	153					4																	113575239		2203	4300	6503	SO:0001583	missense	51574	exon14			AACAAAGGTATTG	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1592G>T	4.37:g.113575239G>T	ENSP00000344950:p.Arg531Met		81	0	0		85	0.05	4	NM_001267039	343	0	0	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	CCDS3701.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.679763|4.679763	0.88542|0.88542	.|.	.|.	ENSG00000174720|ENSG00000174720	ENST00000511529|ENST00000344442;ENST00000509061;ENST00000324052	.|T;T;T	.|0.47869	.|0.83;0.83;0.83	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Nucleotide-binding, alpha-beta plait (1);RNA-binding motif (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69287|0.69287	0.3094|0.3094	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.72625	.|0.978	T|T	0.72250|0.72250	-0.4348|-0.4348	5|10	.|0.72032	.|D	.|0.01	-37.1209|-37.1209	19.075|19.075	0.93158|0.93158	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|531	.|Q4G0J3	.|LARP7_HUMAN	C|M	325|531;538;531	.|ENSP00000344950:R531M;ENSP00000422626:R538M;ENSP00000314311:R531M	.|ENSP00000314311:R531M	G|R	+|+	1|2	0|0	LARP7|LARP7	113794688|113794688	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.971000|0.971000	0.66376|0.66376	9.301000|9.301000	0.96167|0.96167	2.502000|2.502000	0.84385|0.84385	0.591000|0.591000	0.81541|0.81541	GGT|AGG			0.333	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256417.2		NM_016648		T	113575239	G	T	113575239	3	4	146	1	0	0	0	0	1	0	0	0	8648	1000	35	3	1634	3	LARP7	4	113575239	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	57972575	113575239	77579037	28	10692											
PCDH18	54510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	138452613	138452613	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctgaagctcgtagctTgacttcagctcccgatctaa	9	11	10	11	2	2	3	1	3	1	0	4	4	3	3	1	0	4	5	1	0	3	4			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr4:138452613T>G	ENST00000344876.4	-	1	1016	c.630A>C	c.(628-630)tcA>tcC	p.S210S	PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.S210S|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	210	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTCGTAGCTTGACTTCAGCT	0.468																																					p.S210S													.	.			0			c.A630C												67	66	67					4																	138452613		2203	4300	6503	SO:0001819	synonymous_variant	54510	exon1			GTAGCTTGACTTC	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.630A>C	4.37:g.138452613T>G			69	0	0		62	0.1	6	NM_019035	0		0	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																					0.468	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000364614.1		NM_019035		G	138452613	T	G	138452613	2	3	146	1	0	0	0	0	0	0	0	1	11530	1799	63	4		4	PCDH18	4	138452613	Silent	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10	24877374	138452613	52701663	29	10693											
ODZ3	55714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr4	183664532	183664532	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaactatgtgcggcggAtattcccttctggaaatgta	10	14	9	8	2	2	0	1	0	1	0	3	2	3	2	1	3	2	1	1	3	5	6			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr4:183664532A>T	ENST00000511685.1	+	19	3712	c.3589A>T	c.(3589-3591)Ata>Tta	p.I1197L	TENM3_ENST00000406950.2_Missense_Mutation_p.I1197L|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1197					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTGCGGCGGATATTCCCTTC	0.443																																					p.I1197L													.	.			0			c.A3589T												97	99	98					4																	183664532		1929	4140	6069	SO:0001583	missense	55714	exon18			CGGCGGATATTCC	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3589A>T	4.37:g.183664532A>T	ENSP00000424226:p.Ile1197Leu		113	0	0		138	0.21	29	NM_001080477	1	0	0	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.993357	0.54041	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.89875	-2.58;-2.58	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.92224	0.7534	M	0.65498	2.005	0.80722	D	1	P	0.48016	0.904	P	0.55824	0.785	D	0.92130	0.5711	9	0.48119	T	0.1	.	15.7488	0.77967	1.0:0.0:0.0:0.0	.	1197	Q9P273	TEN3_HUMAN	L	1197	ENSP00000424226:I1197L;ENSP00000385276:I1197L	ENSP00000385276:I1197L	I	+	1	0	ODZ3	183901526	1.000000	0.71417	0.994000	0.49952	0.108000	0.19459	9.120000	0.94369	2.306000	0.77630	0.482000	0.46254	ATA			0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361734.1				T	183664532	A	T	183664532	3	4	146	1	0	0	0	0	1	0	0	0	10853	333	12	5	3659	5	ODZ3	4	183664532	Missense_Mutation	SNP	A	TCGA-ZM-AA0H-01A-11D-A435-10	45211919	183664532	7489744	30	10694											
CHD1	1105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	98234123	98234123	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggataaccagctgctgacTtttgattggaatgagctgtg	10	12	12	7	0	0	3	0	3	0	0	0	5	0	5	1	2	4	3	1	2	2	4			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr5:98234123T>A	ENST00000284049.3	-	9	1351	c.1202A>T	c.(1201-1203)aAg>aTg	p.K401M		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	401	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGCTGCTGACTTTTGATTGGA	0.363																																					p.K401M													.	.			0			c.A1202T												63	62	62					5																	98234123		2203	4300	6503	SO:0001583	missense	1105	exon9			GCTGACTTTTGAT	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1202A>T	5.37:g.98234123T>A	ENSP00000284049:p.Lys401Met		71	0	0		56	0.18	10	NM_001270	0		0	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635151	0.87760	.	.	ENSG00000153922	ENST00000284049	T	0.77098	-1.07	5.91	5.91	0.95273	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.34932	U	0.003564	D	0.82815	0.5119	M	0.82823	2.61	0.80722	D	1	B	0.30664	0.289	B	0.37346	0.247	D	0.83462	0.0054	10	0.87932	D	0	.	16.3407	0.83081	0.0:0.0:0.0:1.0	.	401	O14646	CHD1_HUMAN	M	401	ENSP00000284049:K401M	ENSP00000284049:K401M	K	-	2	0	CHD1	98262023	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.669000	0.83911	2.260000	0.74910	0.533000	0.62120	AAG			0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000370295.1		NM_001270		A	98234123	T	A	98234123	3	1	146	1	0	0	0	0	1	0	0	0	3325	1609	56	5	4038	5	CHD1	5	98234123	Missense_Mutation	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10		98234123	82681137	31	10695											
RUFY1	80230	mdanderson.org	37	chr5	179036460	179036460	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctaccccaagccggtGcgagtgtgcgacagctgcca	7	6	11	17	3	0	0	0	0	0	0	1	2	1	0	6	1	6	1	6	1	2	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr5:179036460G>T	ENST00000319449.4	+	18	2079	c.2067G>T	c.(2065-2067)gtG>gtT	p.V689V	RUFY1_ENST00000393438.2_Silent_p.V581V|RUFY1_ENST00000437570.2_Silent_p.V581V|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000508797.1_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	689					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAGCCGGTGCGAGTGTGCG	0.642										HNSCC(44;0.11)																											p.V689V													.	.			0			c.G2067T												54	41	45					5																	179036460		2203	4300	6503	SO:0001819	synonymous_variant	80230	exon18			GCCGGTGCGAGTG	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.2067G>T	5.37:g.179036460G>T			38	0	0		35	0.09	3	NM_025158	99	0	0	Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	CCDS4445.2																																																																																					0.642	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000253505.2		NM_001040451		T	179036460	G	T	179036460	2	4	146	1	0	0	0	0	0	0	0	1	13761	1306	46	2		2	RUFY1	5	179036460	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	80802337	179036460	1878800	32	10696											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045967	26045968	+	Frame_Shift_Del	DEL	TG	TG	-																															actcttcgaagacaccaatcTgtgcgctattcacgctaaac																										TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr6:26045967_26045968delTG	ENST00000540144.1	+	1	329_330	c.329_330delTG	c.(328-330)ctgfs	p.L110fs	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	110					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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GACACCAATCTGTGCGCTATTC	0.564																																					p.110_110del													.	HIST1H3C	34		0			c.329_330del																																									SO:0001589	frameshift_variant	8352	exon1			CCAATCTGTGCGC	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.329_330delTG	6.37:g.26045969_26045970delTG	ENSP00000439493:p.Leu110fs		59	0	0		63	0.11	7	NM_003531	4	0	0	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	ENST00000540144.1	37	CCDS4576.1																																																																																					0.564	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040078.1		NM_003531		-	26045968	TG	-	26045967	7	5	146	1	0	1	0	1	0	0	0	0	7172	1580	55	0	331	0	HIST1H3C	6	26045967	Frame_Shift_Del	DEL	TG	TCGA-ZM-AA0H-01A-11D-A435-10		26045967	145069100	33	10697											
ZNF184	7738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	27419641	27419641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggatgaaccataactgaagGttttcccacattcatgacac	13	10	8	10	0	1	3	1	3	0	0	2	4	2	4	2	2	2	1	2	2	3	4			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr6:27419641G>A	ENST00000211936.6	-	6	1981	c.1697C>T	c.(1696-1698)aCc>aTc	p.T566I	ZNF184_ENST00000377419.1_Missense_Mutation_p.T566I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	566					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATAACTGAAGGTTTTCCCACA	0.403																																					p.T566I													.	.			0			c.C1697T												102	96	98					6																	27419641		2203	4300	6503	SO:0001583	missense	7738	exon6			CTGAAGGTTTTCC	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1697C>T	6.37:g.27419641G>A	ENSP00000211936:p.Thr566Ile		53	0	0		65	0.14	9	NM_007149	9	0.33	3	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354490	0.41700	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.36157	1.27;1.27	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.264843	0.27388	N	0.019598	T	0.19127	0.0459	L	0.49571	1.57	0.09310	N	0.999999	B	0.34290	0.447	B	0.33196	0.159	T	0.08411	-1.0723	10	0.72032	D	0.01	.	11.8196	0.52230	0.0:0.1766:0.8234:0.0	.	566	Q99676	ZN184_HUMAN	I	566;566;482	ENSP00000211936:T566I;ENSP00000366636:T566I	ENSP00000211936:T566I	T	-	2	0	ZNF184	27527620	0.000000	0.05858	1.000000	0.80357	0.935000	0.57460	0.560000	0.23500	2.696000	0.92011	0.591000	0.81541	ACC			0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040146.1		NM_007149		A	27419641	G	A	27419641	3	1	146	1	0	0	0	0	1	0	0	0	17774	1261	44	3	562	3	ZNF184	6	27419641	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	1373674	27419641	143695426	34	10698											
MICB	4277	ucsc.edu;mdanderson.org	37	chr6	31474930	31474930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggtatctttgagccacAacacccagcagtggggggat	10	8	14	9	0	1	1	0	1	1	0	1	2	1	2	2	5	3	2	2	5	2	2	rs201701343		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr6:31474930A>G	ENST00000252229.6	+	4	824	c.745A>G	c.(745-747)Aac>Gac	p.N249D	MICB_ENST00000399150.3_Missense_Mutation_p.N206D|MICB_ENST00000538442.1_Missense_Mutation_p.N217D	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTTGAGCCACAACACCCAGCA	0.582																																					p.N249D													.	MICB	26		0			c.A745G												53	58	56					6																	31474930		1375	2618	3993	SO:0001583	missense	4277	exon4			AGCCACAACACCC		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.745A>G	6.37:g.31474930A>G	ENSP00000252229:p.Asn249Asp		119	0.0504201681	6		123	0.15	18	NM_005931	8	0.25	2		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	-	0.007	-1.938337	0.00484	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.12039	2.72;2.72;2.72	2.73	-5.47	0.02600	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.715426	0.11401	N	0.567833	T	0.00440	0.0014	N	0.00157	-1.96	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.36696	-0.9737	10	0.02654	T	1	.	4.674	0.12703	0.4675:0.3197:0.2128:0.0	.	217;206;249	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	D	217;206;249	ENSP00000442345:N217D;ENSP00000382103:N206D;ENSP00000252229:N249D	ENSP00000252229:N249D	N	+	1	0	MICB	31582909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.105000	0.10907	-1.388000	0.02092	-2.557000	0.00176	AAC			0.582	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076102.3		NM_005931		G	31474930	A	G	31474930	3	3	146	1	0	0	0	0	1	0	0	0	9591	130	5	4	759	4	MICB	6	31474930	Missense_Mutation	SNP	A	TCGA-ZM-AA0H-01A-11D-A435-10	4055289	31474930	139640137	35	10699											
COL11A2	1302	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr6	33139321	33139321	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaccctgcactccatctcGgccagtcgggccaatggggc	7	6	13	15	2	1	0	0	0	1	0	4	1	2	1	4	5	1	1	4	5	1	0			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr6:33139321G>T	ENST00000374708.4	-	41	3181	c.2923C>A	c.(2923-2925)Cga>Aga	p.R975R	COL11A2_ENST00000374712.1_Silent_p.R980R|COL11A2_ENST00000361917.1_Silent_p.R954R|COL11A2_ENST00000341947.2_Silent_p.R1061R|COL11A2_ENST00000374714.1_Silent_p.R1035R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.R1014R|COL11A2_ENST00000357486.1_Silent_p.R1040R|COL11A2_ENST00000395197.1_Silent_p.R1001R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1061	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						ACTCCATCTCGGCCAGTCGGG	0.642																																					p.R1061R	Melanoma(1;90 116 3946 5341 17093)												.	.			0			c.C3181A												33	35	34					6																	33139321		2203	4300	6503	SO:0001819	synonymous_variant	1302	exon43			CATCTCGGCCAGT	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.2923C>A	6.37:g.33139321G>T			81	0	0		81	0.07	6	NM_080680	0		0	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	CCDS43452.1																																																																																					0.642	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000076032.2				T	33139321	G	T	33139321	2	4	146	1	0	0	0	0	0	0	0	1	3670	1124	39	1		1	COL11A2	6	33139321	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	1664391	33139321	137975746	36	10700											
EZR	7430	mdanderson.org	37	chr6	159188482	159188482	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtggtgggggcgggggTgctgtcatcaccaggtgcag	4	7	23	7	1	2	0	2	0	0	0	2	0	2	0	1	8	2	2	1	8	0	0			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr6:159188482T>G	ENST00000367075.3	-	13	1575	c.1407A>C	c.(1405-1407)gcA>gcC	p.A469A	EZR_ENST00000337147.7_Silent_p.A469A|MIR3918_ENST00000581555.1_RNA|EZR_ENST00000392177.4_Silent_p.A437A	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	469	Interaction with SCYL3.				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)		GGGGCGGGGGTGCTGTCATCA	0.607			T	ROS1	NSCLC																																p.A469A				Dom	yes		6	6q25.3	7430	ezrin		E	.	.			0			c.A1407C												50	53	52					6																	159188482		2203	4300	6503	SO:0001819	synonymous_variant	7430	exon12			CGGGGGTGCTGTC	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.1407A>C	6.37:g.159188482T>G			35	0.0571428571	2		48	0.29	14	NM_003379	67	0.04	3	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	CCDS5258.1																																																																																					0.607	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042878.1		NM_003379		G	159188482	T	G	159188482	2	3	146	1	0	0	0	0	0	0	0	1	5342	1683	59	4		4	EZR	6	159188482	Silent	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10	126049161	159188482	11926585	37	10701											
IGF2R	3482	broad.mit.edu	37	chr6	160445736	160445736	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtttgtagagacataGgtatgaatctttgtggggct	10	15	12	4	0	2	2	1	1	1	1	2	3	2	2	0	3	0	4	0	3	5	5			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr6:160445736G>T	ENST00000356956.1	+	5	794	c.646G>T	c.(646-648)Gac>Tac	p.D216Y		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	216					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)	TAGAGACATAGGTATGAATCT	0.438																																					p.D216Y													.	IGF2R	251		0			c.G646T												118	107	111					6																	160445736		2203	4300	6503	SO:0001630	splice_region_variant	3482	exon5			GACATAGGTATGA	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.646+1G>T	6.37:g.160445736G>T			63	0	0		63	0.05	3	NM_000876	1	0	0	Q7Z7G9|Q96PT5	Splice_Site	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700523	0.68501	.	.	ENSG00000197081	ENST00000356956	T	0.02085	4.46	5.62	5.62	0.85841	Mannose-6-phosphate receptor, binding (1);	0.412810	0.30464	N	0.009562	T	0.06005	0.0156	M	0.78223	2.4	0.50813	D	0.999896	P	0.48503	0.911	P	0.52267	0.694	T	0.11717	-1.0576	10	0.56958	D	0.05	-4.0139	19.6574	0.95849	0.0:0.0:1.0:0.0	.	216	P11717	MPRI_HUMAN	Y	216	ENSP00000349437:D216Y	ENSP00000349437:D216Y	D	+	1	0	IGF2R	160365726	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.372000	0.66156	2.645000	0.89757	0.462000	0.41574	GAC			0.438	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042931.1		NM_000876	Missense_Mutation	T	160445736	G	T	160445736	5	4	146	1	0	0	0	0	0	0	1	0	7591	1014	35	3	664	3	IGF2R	6	160445736	Splice_Site	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	1257254	160445736	10669331	38	10702											
MLLT4	4301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	168276034	168276034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaaattctcgactggctGctgaggtttacaaagacatg	12	11	11	7	1	1	3	0	2	1	1	2	4	1	3	0	2	2	3	0	2	4	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr6:168276034G>A	ENST00000447894.2	+	5	598	c.598G>A	c.(598-600)Gct>Act	p.A200T	MLLT4_ENST00000366806.2_Missense_Mutation_p.A200T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A199T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A200T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A200T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A199T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A200T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	200					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)		TCGACTGGCTGCTGAGGTTTA	0.368			T	MLL	AL																																p.A200T				Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	.	.			0			c.G598A												123	134	130					6																	168276034		2203	4296	6499	SO:0001583	missense	4301	exon5			CTGGCTGCTGAGG	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.598G>A	6.37:g.168276034G>A	ENSP00000404595:p.Ala200Thr		77	0	0		68	0.1	7	NM_001040000	1	0	0	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	G	13.67	2.306793	0.40795	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04502	3.81;3.71;3.81;3.8;3.61;3.71;3.71	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.02533	0.0077	L	0.36672	1.1	0.47407	D	0.999418	P;P;P	0.47762	0.9;0.551;0.551	P;B;B	0.44990	0.466;0.333;0.275	T	0.59920	-0.7363	10	0.26408	T	0.33	0.033	10.9201	0.47158	0.0867:0.0:0.9133:0.0	.	199;200;199	P55196-5;P55196-6;P55196-2	.;.;.	T	200;200;200;200;200;199;200;201;199;200	ENSP00000341118:A200T;ENSP00000252692:A200T;ENSP00000375956:A200T;ENSP00000355771:A200T;ENSP00000375960:A199T;ENSP00000383623:A199T;ENSP00000404595:A200T	ENSP00000345834:A200T	A	+	1	0	MLLT4	168018883	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	7.619000	0.83057	2.333000	0.79357	0.460000	0.39030	GCT			0.368	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000372077.1		NM_005936		A	168276034	G	A	168276034	3	1	146	1	0	0	0	0	1	0	0	0	9645	1319	46	2	616	2	MLLT4	6	168276034	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	7830298	168276034	2839033	39	10703											
LRCH4	4034	mdanderson.org	37	chr7	100179705	100179705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccgatgtcagggggcaGggctcccagcttgttgttgc	4	10	17	10	1	1	0	1	0	0	0	2	1	2	0	2	4	3	5	2	4	0	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr7:100179705G>T	ENST00000310300.6	-	3	503	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	LRCH4_ENST00000497245.1_De_novo_Start_InFrame	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	151					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGGGGGCAGGGCTCCCAGC	0.637																																					p.L151M													.	.			0			c.C451A												64	66	66					7																	100179705		2203	4300	6503	SO:0001583	missense	4034	exon3			GGGGCAGGGCTCC	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.451C>A	7.37:g.100179705G>T	ENSP00000309689:p.Leu151Met		33	0	0		47	0.06	3	NM_002319	30	0	0	A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101914	0.56183	.	.	ENSG00000077454	ENST00000310300	T	0.64991	-0.13	4.71	2.91	0.33838	.	0.000000	0.64402	D	0.000004	T	0.78761	0.4334	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79512	-0.1773	10	0.87932	D	0	-11.7495	9.1714	0.37083	0.1794:0.0:0.8206:0.0	.	151	O75427	LRCH4_HUMAN	M	151	ENSP00000309689:L151M	ENSP00000309689:L151M	L	-	1	2	LRCH4	100017641	1.000000	0.71417	0.998000	0.56505	0.430000	0.31655	4.046000	0.57376	0.731000	0.32448	-0.156000	0.13503	CTG			0.637	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356110.1		NM_002319		T	100179705	G	T	100179705	3	4	146	1	0	0	0	0	1	0	0	0	8951	991	35	3	1664	3	LRCH4	7	100179705	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		100179705	58958958	40	10704											
NRG1	3084	bcgsc.ca	37	chr8	32617775	32617775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactctgtaatcgtgatGtcatccgtagaaaacagtag	13	10	9	9	2	2	2	1	1	1	1	4	2	3	2	2	0	2	3	2	0	5	3	rs373062517		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr8:32617775G>T	ENST00000405005.3	+	11	1119	c.1119G>T	c.(1117-1119)atG>atT	p.M373I	NRG1_ENST00000523079.1_Missense_Mutation_p.M370I|NRG1_ENST00000287845.5_Missense_Mutation_p.M344I|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.M381I|NRG1_ENST00000521670.1_Missense_Mutation_p.M373I|NRG1_ENST00000287842.3_Missense_Mutation_p.M370I|NRG1_ENST00000519301.1_Missense_Mutation_p.M323I|NRG1_ENST00000356819.4_Missense_Mutation_p.M378I|NRG1_ENST00000539990.1_Missense_Mutation_p.M216I			Q02297	NRG1_HUMAN	neuregulin 1	373					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)		TAATCGTGATGTCATCCGTAG	0.517																																					p.M378I													.	NRG1	260		0			c.G1134T							G	ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET	0,4406		0,0,2203	118	120	119		1119,1119,1110,1134,1110,1110,969,1071,657,1020	4	1	8		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	NRG1	NM_013964.3,NM_013960.3,NM_013957.3,NM_013956.3,NM_001160008.1,NM_001160004.1,NM_001160001.1,NM_001159999.1,NM_001159996.1,NM_001159995.1	10,10,10,10,10,10,10,10,10,10	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	373/641,373/463,370/638,378/646,370/421,370/460,323/591,357/625,219/309,340/608	32617775	1,13005	2203	4300	6503	SO:0001583	missense	3084	exon12			CGTGATGTCATCC	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.1119G>T	8.37:g.32617775G>T	ENSP00000384620:p.Met373Ile		102	0	0		128	0.05	6	NM_013956	0		0	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	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947460	0.34377	0.0	1.16E-4	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000539990	T;T;T;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;0.56;0.56;0.56	5.92	3.98	0.46160	Neuregulin 1-related, C-terminal (1);	0.326457	0.38005	N	0.001857	T	0.24275	0.0588	N	0.04959	-0.14	0.31372	N	0.680075	B;B;B;B;B;B;B;B;B;B;B	0.26708	0.0;0.002;0.001;0.001;0.001;0.001;0.157;0.001;0.001;0.001;0.002	B;B;B;B;B;B;B;B;B;B;B	0.22386	0.003;0.01;0.004;0.002;0.004;0.006;0.039;0.002;0.004;0.002;0.006	T	0.07947	-1.0746	10	0.46703	T	0.11	-3.6799	2.1763	0.03863	0.1669:0.1902:0.498:0.1449	.	216;219;370;344;378;369;381;370;373;378;373	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	I	340;323;446;370;381;378;373;344;370;373;373;216	ENSP00000430053:M340I;ENSP00000429582:M323I;ENSP00000429067:M446I;ENSP00000430120:M370I;ENSP00000343395:M381I;ENSP00000349275:M378I;ENSP00000287840:M373I;ENSP00000287845:M344I;ENSP00000287842:M370I;ENSP00000384620:M373I;ENSP00000428828:M373I;ENSP00000439276:M216I	ENSP00000287840:M373I	M	+	3	0	NRG1	32737317	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	0.812000	0.27211	2.804000	0.96469	0.655000	0.94253	ATG			0.517	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000472504.1				T	32617775	G	T	32617775	3	4	146	1	0	0	0	0	1	0	0	0	10664	1377	48	3	2757	3	NRG1	8	32617775	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		32617775	113746247	41	10705											
RAB11FIP1	80223	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	37756869	37756869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccccggggcccttggcccGcaggccccgcgcctgcagca	3	3	14	21	4	0	0	0	0	0	0	0	0	0	0	7	4	2	3	7	4	0	1	rs372489374		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr8:37756869G>A	ENST00000330843.4	-	1	103	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.R31W|RAB11FIP1_ENST00000522727.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	31	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			CCCTTGGCCCGCAGGCCCCGC	0.721																																					p.R31W													.	RAB11FIP1	105		0			c.C91T								TRP/ARG,TRP/ARG	1,4345		0,1,2172	12	16	15		91,91	3.1	1	8		15	0,8486		0,0,4243	no	missense,missense	RAB11FIP1	NM_001002814.2,NM_025151.4	101,101	0,1,6415	AA,AG,GG		0.0,0.023,0.0078	probably-damaging,probably-damaging	31/1284,31/650	37756869	1,12831	2173	4243	6416	SO:0001583	missense	80223	exon1			TGGCCCGCAGGCC	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.91C>T	8.37:g.37756869G>A	ENSP00000331342:p.Arg31Trp		43	0	0		31	0.13	4	NM_025151	0		0	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.440042	0.83993	2.3E-4	0.0	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000343853	T;T	0.69685	-0.42;-0.42	4.98	3.13	0.36017	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.108361	0.41097	D	0.000959	D	0.83899	0.5354	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	D	0.85663	0.1290	10	0.72032	D	0.01	-13.8699	12.4643	0.55749	0.0:0.0:0.5603:0.4397	.	31;31	Q6WKZ4-3;Q6WKZ4	.;RFIP1_HUMAN	W	31	ENSP00000287263:R31W;ENSP00000331342:R31W	ENSP00000287263:R31W	R	-	1	2	RAB11FIP1	37876027	0.000000	0.05858	0.982000	0.44146	0.979000	0.70002	0.031000	0.13710	0.476000	0.27440	0.645000	0.84053	CGG			0.721	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000376816.1		NM_025151		A	37756869	G	A	37756869	3	1	146	1	0	0	0	0	1	0	0	0	12916	1086	38	1	3784	1	RAB11FIP1	8	37756869	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	5139094	37756869	108607153	42	10706											
HOOK3	84376	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	42798490	42798490	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaatgactttacccttcCtgatgtgaaccttattgggg	10	15	8	8	0	0	3	0	3	0	0	1	3	1	3	3	2	2	0	3	2	5	6			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr8:42798490C>G	ENST00000307602.4	+	5	502	c.302C>G	c.(301-303)cCt>cGt	p.P101R		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	101	Sufficient for interaction with microtubules.				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)			TTTACCCTTCCTGATGTGAAC	0.373			T	RET	papillary thyroid																																p.P101R				Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	.			0			c.C302G												100	94	96					8																	42798490		2203	4300	6503	SO:0001583	missense	84376	exon5			CCCTTCCTGATGT	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.302C>G	8.37:g.42798490C>G	ENSP00000305699:p.Pro101Arg		79	0	0		118	0.09	11	NM_032410	3	0	0	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687443	0.88639	.	.	ENSG00000168172	ENST00000307602	T	0.48836	0.8	5.67	5.67	0.87782	.	0.113136	0.64402	D	0.000009	T	0.74238	0.3690	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77713	-0.2485	10	0.87932	D	0	-14.9162	19.8436	0.96701	0.0:1.0:0.0:0.0	.	101;101	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	R	101	ENSP00000305699:P101R	ENSP00000305699:P101R	P	+	2	0	HOOK3	42917647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.260000	0.78391	2.690000	0.91761	0.644000	0.83932	CCT			0.373	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383172.2		NM_032410		G	42798490	C	G	42798490	3	3	146	1	0	0	0	0	1	0	0	0	7299	681	24	5	320	5	HOOK3	8	42798490	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	5041621	42798490	103565532	43	10707											
ASCC1	51008	broad.mit.edu	37	chr10	73956741	73956741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatttcgatgctggccaGtgattactgtaaacaaagaa	14	10	8	9	1	0	2	0	1	0	1	1	3	0	2	2	1	3	2	2	1	5	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr10:73956741G>T	ENST00000342444.4	-	6	502	c.401C>A	c.(400-402)aCt>aAt	p.T134N	ASCC1_ENST00000317168.6_Missense_Mutation_p.T106N|ASCC1_ENST00000545550.1_Missense_Mutation_p.T128N|ASCC1_ENST00000317126.4_Missense_Mutation_p.T106N|ASCC1_ENST00000394915.3_Missense_Mutation_p.T134N|ASCC1_ENST00000394919.1_Missense_Mutation_p.T106N	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	134	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						ATGCTGGCCAGTGATTACTGT	0.443																																					p.T134N													.	ASCC1	18		0			c.C401A												71	68	69					10																	73956741		2202	4299	6501	SO:0001583	missense	51008	exon6			TGGCCAGTGATTA	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.401C>A	10.37:g.73956741G>T	ENSP00000339404:p.Thr134Asn		96	0.0104166667	1		61	0.07	4	NM_001198799	9	0	0	Q5SW06|Q5SW07|Q96EI8|Q9Y307	Missense_Mutation	SNP	ENST00000342444.4	37	CCDS55713.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.3|25.3|25.3	4.619869|4.619869|4.619869	0.87460|0.87460|0.87460	.|.|.	.|.|.	ENSG00000138303|ENSG00000138303|ENSG00000138303	ENST00000486689|ENST00000525286|ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000503308;ENST00000317126;ENST00000545550;ENST00000394915;ENST00000530431;ENST00000531048;ENST00000530461;ENST00000527593;ENST00000524829	.|.|T;T;T;T;T;T;T;T;T;T	.|.|0.48522	.|.|1.42;1.42;1.42;1.42;1.42;1.42;0.81;1.42;1.42;1.42	5.64|5.64|5.64	4.73|4.73|4.73	0.59995|0.59995|0.59995	.|.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|.|0.045076	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.73466|0.73466|0.73466	0.3590|0.3590|0.3590	M|M|M	0.88570|0.88570|0.88570	2.965|2.965|2.965	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D	.|.|0.71674	.|.|0.995;0.998;0.994	.|.|P;D;P	.|.|0.72982	.|.|0.872;0.979;0.875	T|T|T	0.79727|0.79727|0.79727	-0.1682|-0.1682|-0.1682	5|5|10	.|.|0.56958	.|.|D	.|.|0.05	-7.7372|-7.7372|-7.7372	16.8709|16.8709|16.8709	0.86040|0.86040|0.86040	0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0	.|.|.	.|.|128;134;21	.|.|F5H874;Q8N9N2;B3KU20	.|.|.;ASCC1_HUMAN;.	Q|M|N	37|3|106;134;106;106;21;106;128;134;21;40;67;106;106	.|.|ENSP00000378377:T106N;ENSP00000339404:T134N;ENSP00000320810:T106N;ENSP00000320461:T106N;ENSP00000442121:T128N;ENSP00000378373:T134N;ENSP00000436098:T40N;ENSP00000431255:T67N;ENSP00000432418:T106N;ENSP00000431573:T106N	.|.|ENSP00000320461:T106N	H|L|T	-|-|-	3|1|2	2|2|0	ASCC1|ASCC1|ASCC1	73626747|73626747|73626747	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	9.052000|9.052000|9.052000	0.93855|0.93855|0.93855	1.505000|1.505000|1.505000	0.48720|0.48720|0.48720	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	CAC|CTG|ACT			0.443	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000048573.2		NM_015947		T	73956741	G	T	73956741	3	4	146	1	0	0	0	0	1	0	0	0	1031	1029	36	3	780	3	ASCC1	10	73956741	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		73956741	61578006	44	10708											
GRK5	2869	mdanderson.org	37	chr10	121086116	121086116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgtgaagacctccgaagGaccataggtaagctgtcctg	11	8	12	10	1	0	2	0	1	0	1	2	4	2	3	4	2	1	2	4	2	4	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr10:121086116G>T	ENST00000392870.2	+	2	470	c.141G>T	c.(139-141)agG>agT	p.R47S		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	47	N-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ACCTCCGAAGGACCATAGGTA	0.557																																					p.R47S													.	.			0			c.G141T												59	55	57					10																	121086116		2203	4300	6503	SO:0001583	missense	2869	exon2			CCGAAGGACCATA	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.141G>T	10.37:g.121086116G>T	ENSP00000376609:p.Arg47Ser		45	0	0		44	0.07	3	NM_005308	0		0	D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	G	8.279	0.815162	0.16607	.	.	ENSG00000198873	ENST00000369106;ENST00000392870	T	0.02258	4.37	5.02	2.09	0.27110	Regulator of G protein signalling superfamily (1);	0.216753	0.30667	U	0.009139	T	0.01592	0.0051	N	0.24115	0.695	0.58432	D	0.999999	B	0.13594	0.008	B	0.14023	0.01	T	0.51647	-0.8679	10	0.10902	T	0.67	-20.3397	8.1281	0.31012	0.3618:0.0:0.6382:0.0	.	47	P34947	GRK5_HUMAN	S	47	ENSP00000376609:R47S	ENSP00000358102:R47S	R	+	3	2	GRK5	121076106	0.960000	0.32886	0.994000	0.49952	0.993000	0.82548	0.329000	0.19698	0.608000	0.30000	0.655000	0.94253	AGG			0.557	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050652.2		NM_005308		T	121086116	G	T	121086116	3	4	146	1	0	0	0	0	1	0	0	0	6807	1165	41	3	147	3	GRK5	10	121086116	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	47129375	121086116	14448631	45	10709											
RNASEH2C	84153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	65487762	65487762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtcagtcccggaatccCgcaaggggtctggcttcccc	5	8	13	15	3	2	0	1	0	1	0	6	1	5	1	4	5	0	2	4	5	2	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr11:65487762C>A	ENST00000308418.4	-	2	487	c.299G>T	c.(298-300)cGg>cTg	p.R100L	RNASEH2C_ENST00000527610.1_Missense_Mutation_p.R100L|RNASEH2C_ENST00000528220.1_Missense_Mutation_p.R17L	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	100					RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)				cervix(1)	1						CCCGGAATCCCGCAAGGGGTC	0.632																																					p.R100L													.	.			0			c.G299T												81	90	87					11																	65487762		2201	4297	6498	SO:0001583	missense	84153	exon2			GAATCCCGCAAGG	AF312034	CCDS8111.1	11q13.1	2014-09-17							24116	protein-coding gene	gene with protein product	"Aicardi-Goutieres syndrome 3"	610330				8244390, 16845400	Standard	NM_032193		Approved	AYP1, AGS3	uc001ofn.3	Q8TDP1		ENST00000308418.4:c.299G>T	11.37:g.65487762C>A	ENSP00000308193:p.Arg100Leu		67	0	0		53	0.17	9	NM_032193	181	0.18	33	Q9H7F5	Missense_Mutation	SNP	ENST00000308418.4	37	CCDS8111.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835337	0.32421	.	.	ENSG00000172922	ENST00000308418;ENST00000528220;ENST00000527610	D;D;D	0.91464	-2.85;-2.85;-2.85	4.62	-3.3	0.05003	.	1.706710	0.03395	N	0.202498	D	0.87370	0.6160	L	0.56769	1.78	0.09310	N	1	B	0.30914	0.3	B	0.28916	0.096	T	0.72786	-0.4188	10	0.28530	T	0.3	-2.721	9.6269	0.39757	0.0:0.382:0.0:0.618	.	100	Q8TDP1	RNH2C_HUMAN	L	100;17;100	ENSP00000308193:R100L;ENSP00000431555:R17L;ENSP00000432897:R100L	ENSP00000308193:R100L	R	-	2	0	RNASEH2C	65244338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.857000	0.01660	-0.853000	0.04136	-0.139000	0.14373	CGG			0.632	RNASEH2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390693.2		NM_032193		A	65487762	C	A	65487762	3	1	146	1	0	0	0	0	1	0	0	0	13437	652	23	1	207	1	RNASEH2C	11	65487762	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10		65487762	69518754	46	10710											
ODZ4	26011	mdanderson.org	37	chr11	78614378	78614378	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcaggctcctgggcGccgccggcagggggctctcc	2	5	19	15	4	1	0	0	0	1	0	3	0	2	0	4	6	0	4	4	6	0	0			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr11:78614378G>T	ENST00000278550.7	-	7	1146	c.684C>A	c.(682-684)ggC>ggA	p.G228G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	228	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										GCTCCTGGGCGCCGCCGGCAG	0.701																																					p.G228G													.	.			0			c.C684A												9	13	12					11																	78614378		688	1587	2275	SO:0001819	synonymous_variant	26011	exon7			CTGGGCGCCGCCG	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.684C>A	11.37:g.78614378G>T			38	0	0		34	0.09	3	NM_001098816	0		0	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																					0.701	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391406.2				T	78614378	G	T	78614378	2	4	146	1	0	0	0	0	0	0	0	1	10854	1074	38	1		1	ODZ4	11	78614378	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	13126616	78614378	56392138	47	10711											
ARHGAP32	9743	mdanderson.org	37	chr11	128844779	128844779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctcctcactctcattGtcatgaggcagattatcata	9	14	5	13	0	4	2	4	1	1	1	7	2	6	2	3	1	0	1	3	1	2	4			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr11:128844779G>T	ENST00000310343.9	-	20	2270	c.2271C>A	c.(2269-2271)gaC>gaA	p.D757E	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.D408E|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.D408E|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.D683E	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	757					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						CACTCTCATTGTCATGAGGCA	0.498																																					p.D757E													.	.			0			c.C2271A												73	66	69					11																	128844779		2201	4297	6498	SO:0001583	missense	9743	exon20			CTCATTGTCATGA	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.2271C>A	11.37:g.128844779G>T	ENSP00000310561:p.Asp757Glu		73	0	0		45	0.07	3	NM_001142685	0		0	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	6.413	0.444233	0.12164	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.59	3.7	0.42460	.	0.350015	0.33110	N	0.005275	T	0.15782	0.0380	L	0.29908	0.895	0.25435	N	0.98815	B;P	0.50369	0.349;0.934	B;P	0.46885	0.142;0.53	T	0.07309	-1.0779	10	0.06494	T	0.89	.	10.2681	0.43466	0.0749:0.1366:0.7885:0.0	.	691;757	Q86T64;A7KAX9	.;RHG32_HUMAN	E	757;408;683;691;408	ENSP00000310561:D757E;ENSP00000376425:D408E;ENSP00000432468:D683E;ENSP00000432862:D408E	ENSP00000310561:D757E	D	-	3	2	ARHGAP32	128349989	1.000000	0.71417	0.325000	0.25375	0.881000	0.50899	3.054000	0.49908	0.704000	0.31869	0.650000	0.86243	GAC			0.498	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386151.3		NM_014715		T	128844779	G	T	128844779	3	4	146	1	0	0	0	0	1	0	0	0	881	1368	48	3	4004	3	ARHGAP32	11	128844779	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	50230401	128844779	6161737	48	10712											
KIF5A	3798	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr12	57965876	57965876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgaggagacaacgagaaGgtccagcgggagctgagcca	13	2	15	11	3	0	3	0	1	0	2	1	7	1	4	3	3	4	1	3	3	2	0			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr12:57965876G>A	ENST00000455537.2	+	14	1669	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	KIF5A_ENST00000286452.5_Silent_p.K376K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	465					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)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACAACGAGAAGGTCCAGCGGG	0.572																																					p.K465K													.	KIF5A	143		0			c.G1395A												70	63	66					12																	57965876		2202	4300	6502	SO:0001819	synonymous_variant	3798	exon14			CGAGAAGGTCCAG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1395G>A	12.37:g.57965876G>A			61	0	0		60	0.08	5	NM_004984	1	0	0	A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	CCDS8945.1																																																																																					0.572	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407634.1		NM_004984		A	57965876	G	A	57965876	2	1	146	1	0	0	0	0	0	0	0	1	8320	991	35	3		3	KIF5A	12	57965876	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		57965876	75886019	49	10713											
PPM1H	57460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	63225974	63225974	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgtttggggttgaggTcacggcccctgccttcttct	2	15	12	12	1	3	1	1	1	2	0	4	1	4	1	4	4	1	3	4	4	0	5			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr12:63225974T>A	ENST00000228705.6	-	2	631	c.331A>T	c.(331-333)Acc>Tcc	p.T111S		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	111							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GGGGTTGAGGTCACGGCCCCT	0.557																																					p.T111S													.	.			0			c.A331T												97	94	95					12																	63225974		1969	4146	6115	SO:0001583	missense	57460	exon2			TTGAGGTCACGGC	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.331A>T	12.37:g.63225974T>A	ENSP00000228705:p.Thr111Ser		92	0	0		131	0.17	22	NM_020700	0		0	B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.408249	0.01155	.	.	ENSG00000111110	ENST00000228705	T	0.41065	1.01	5.64	1.95	0.26073	Protein phosphatase 2C-like (2);	0.604741	0.16953	N	0.192799	T	0.23133	0.0559	N	0.17082	0.46	0.21105	N	0.999787	B	0.02656	0.0	B	0.04013	0.001	T	0.20672	-1.0268	9	.	.	.	.	8.1225	0.30980	0.0:0.235:0.0:0.765	.	111	Q9ULR3	PPM1H_HUMAN	S	111	ENSP00000228705:T111S	.	T	-	1	0	PPM1H	61512241	0.282000	0.24268	0.196000	0.23383	0.040000	0.13550	1.052000	0.30429	0.089000	0.17243	-0.263000	0.10527	ACC			0.557	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406760.2		NM_020700		A	63225974	T	A	63225974	3	1	146	1	0	0	0	0	1	0	0	0	12361	1667	58	5	1249	5	PPM1H	12	63225974	Missense_Mutation	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10	5260098	63225974	70625921	50	10714											
NAV3	89795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr12	78591111	78591111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccagttgtaataattcttGataatcttcatcatgtgggc	10	16	7	8	0	4	1	2	1	2	0	5	1	5	1	1	1	0	2	1	1	3	7			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr12:78591111G>C	ENST00000397909.2	+	35	6549	c.6376G>C	c.(6376-6378)Gat>Cat	p.D2126H	NAV3_ENST00000536525.2_Missense_Mutation_p.D2104H|NAV3_ENST00000228327.6_Missense_Mutation_p.D2104H|NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000266692.7_Missense_Mutation_p.D1927H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2126						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						AATAATTCTTGATAATCTTCA	0.338										HNSCC(70;0.22)																											p.D2104H													.	.			0			c.G6310C												125	114	118					12																	78591111		1838	4083	5921	SO:0001583	missense	89795	exon34			ATTCTTGATAATC	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.6376G>C	12.37:g.78591111G>C	ENSP00000381007:p.Asp2126His		50	0	0		76	0.14	11	NM_014903	0		0	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.640548|4.640548	0.87859|0.87859	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.96041|.	-3.89;-3.89;-3.89;-3.89;-3.89|.	5.35|5.35	5.35|5.35	0.76521|0.76521	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.41294|.	U|.	0.000913|.	D|.	0.91019|.	0.7175|.	H|H	0.98487|0.98487	4.245|4.245	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;0.998;1.0;0.999|.	D|.	0.94245|.	0.7488|.	10|.	0.87932|.	D|.	0|.	-22.1732|-22.1732	19.4322|19.4322	0.94775|0.94775	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2104;1927;2126;2104|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	H|S	2104;2126;2104;1927;718;726|998	ENSP00000446132:D2104H;ENSP00000381007:D2126H;ENSP00000228327:D2104H;ENSP00000266692:D1927H;ENSP00000448303:D726H|.	ENSP00000228327:D2104H|.	D|X	+|+	1|2	0|2	NAV3|NAV3	77115242|77115242	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	9.813000|9.813000	0.99286|0.99286	2.649000|2.649000	0.89929|0.89929	0.655000|0.655000	0.94253|0.94253	GAT|TGA			0.338	NAV3-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000406812.1		NM_001024383		C	78591111	G	C	78591111	3	2	146	1	0	0	0	0	1	0	0	0	10201	1290	45	5	6444	5	NAV3	12	78591111	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	15365137	78591111	55260784	51	10715											
SFRS9	8683	mdanderson.org	37	chr12	120907259	120907259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacgaaggcgaagggcaCgaggccgtgccggttcttga	8	5	17	11	6	1	1	0	1	1	0	1	4	1	1	2	4	1	3	2	4	2	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr12:120907259C>T	ENST00000229390.3	-	1	337	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	DYNLL1_ENST00000548342.1_5'Flank|DYNLL1_ENST00000392509.2_5'Flank	NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	52	RRM 1. {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)|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)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						GCGAAGGGCACGAGGCCGTGC	0.692																																					p.V52M													.	.			0			c.G154A												51	54	53					12																	120907259		2203	4300	6503	SO:0001583	missense	8683	exon1			AGGGCACGAGGCC	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	ENST00000229390.3:c.154G>A	12.37:g.120907259C>T	ENSP00000229390:p.Val52Met		43	0	0		48	0.06	3	NM_003769	85	0	0	Q52LD1	Missense_Mutation	SNP	ENST00000229390.3	37	CCDS9199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.959165|3.959165	0.74016|0.74016	.|.	.|.	ENSG00000111786|ENSG00000111786	ENST00000550458|ENST00000229390	.|T	.|0.05996	.|3.36	4.53|4.53	4.53|4.53	0.55603|0.55603	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.356857	.|0.25777	.|N	.|0.028368	T|T	0.08980|0.08980	0.0222|0.0222	N|N	0.19112|0.19112	0.55|0.55	0.25986|0.25986	N|N	0.982313|0.982313	.|D;P	.|0.58970	.|0.984;0.953	.|P;P	.|0.50860	.|0.639;0.652	T|T	0.08166|0.08166	-1.0735|-1.0735	5|10	.|0.87932	.|D	.|0	.|.	16.2483|16.2483	0.82460|0.82460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|52;52	.|B4DFT9;Q13242	.|.;SRSF9_HUMAN	H|M	39|52	.|ENSP00000229390:V52M	.|ENSP00000229390:V52M	R|V	-|-	2|1	0|0	SRSF9|SRSF9	119391642|119391642	0.002000|0.002000	0.14202|0.14202	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.339000|0.339000	0.19875|0.19875	2.362000|2.362000	0.80069|0.80069	0.499000|0.499000	0.49734|0.49734	CGT|GTG			0.692	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000108983.2		NM_003769		T	120907259	C	T	120907259	3	4	146	1	0	0	0	0	1	0	0	0	14207	536	19	1	527	1	SFRS9	12	120907259	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	42316148	120907259	12944636	52	10716											
HSPH1	10808	mdanderson.org	37	chr13	31727058	31727058	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcatctaacacagatcGcctctcagcatctgtaaaga	13	9	7	12	1	3	2	1	0	3	2	5	2	3	2	1	0	4	4	1	0	3	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr13:31727058G>T	ENST00000320027.5	-	5	804	c.460C>A	c.(460-462)Cga>Aga	p.R154R	HSPH1_ENST00000380405.4_Silent_p.R154R|HSPH1_ENST00000445273.2_Silent_p.R156R|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Silent_p.R113R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	154					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)		AACACAGATCGCCTCTCAGCA	0.373																																					p.R154R													HSPH1,NS,carcinoma,0,1	HSPH1	0	1	0			c.C460A												180	174	176					13																	31727058		2203	4299	6502	SO:0001819	synonymous_variant	10808	exon5			CAGATCGCCTCTC	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.460C>A	13.37:g.31727058G>T			47	0	0		50	0.06	3	NM_006644	5	0	0	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	CCDS9340.1																																																																																					0.373	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044384.1				T	31727058	G	T	31727058	2	4	146	1	0	0	0	0	0	0	0	1	7446	1095	38	1		1	HSPH1	13	31727058	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		31727058	83442820	53	10717											
ABHD12B	145447	mdanderson.org	37	chr14	51371075	51371075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatttcctgagcaagcaGtggtcatgagtctgggagga	11	9	15	6	0	2	3	1	2	1	1	3	6	3	5	1	3	2	2	1	3	1	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr14:51371075G>T	ENST00000337334.2	+	13	1095	c.1080G>T	c.(1078-1080)caG>caT	p.Q360H	ABHD12B_ENST00000353130.1_Missense_Mutation_p.Q283H|ABHD12B_ENST00000395752.1_Missense_Mutation_p.Q253H|PYGL_ENST00000532462.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	360							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					TGAGCAAGCAGTGGTCATGAG	0.418																																					p.Q360H													.	.			0			c.G1080T												177	181	179					14																	51371075		2203	4300	6503	SO:0001583	missense	145447	exon13			CAAGCAGTGGTCA	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"Abhydrolase domain containing"	19837	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 29"	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.1080G>T	14.37:g.51371075G>T	ENSP00000336693:p.Gln360His		53	0	0		43	0.07	3	NM_001206673	31	0	0	Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107286	0.37145	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.36699	2.23;1.24;2.25	4.94	3.11	0.35812	.	0.324668	0.28618	N	0.014701	T	0.27933	0.0688	L	0.44542	1.39	0.30960	N	0.723774	B;B	0.22414	0.069;0.043	B;B	0.21917	0.037;0.018	T	0.19451	-1.0305	10	0.33940	T	0.23	-11.7539	8.3627	0.32367	0.1871:0.0:0.8129:0.0	.	360;283	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	H	283;360;253	ENSP00000343951:Q283H;ENSP00000336693:Q360H;ENSP00000379101:Q253H	ENSP00000336693:Q360H	Q	+	3	2	ABHD12B	50440825	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	0.885000	0.28227	0.762000	0.33152	-0.126000	0.14955	CAG			0.418	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000411030.1				T	51371075	G	T	51371075	3	4	146	1	0	0	0	0	1	0	0	0	77	1020	36	3	909	3	ABHD12B	14	51371075	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		51371075	55978465	54	10718											
ACOT6	641372	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	74086215	74086215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcttgttccattggaaaAggcgcaggtgcccttcttgt	8	13	11	9	1	2	0	0	0	2	0	3	1	3	1	2	3	1	2	2	3	3	5			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr14:74086215A>G	ENST00000381139.1	+	2	627	c.296A>G	c.(295-297)aAg>aGg	p.K99R	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	99						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CCATTGGAAAAGGCGCAGGTG	0.433																																					p.K99R													.	ACOT6	12		0			c.A296G												85	83	84					14																	74086215		2203	4300	6503	SO:0001583	missense	641372	exon2			TGGAAAAGGCGCA	DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"Acyl CoA thioesterases"	33159	protein-coding gene	gene with protein product		614267	"chromosome 14 open reading frame 42"	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.296A>G	14.37:g.74086215A>G	ENSP00000370531:p.Lys99Arg		102	0	0		86	0.06	5	NM_001037162	0		0		Missense_Mutation	SNP	ENST00000381139.1	37	CCDS32118.1	.	.	.	.	.	.	.	.	.	.	A	4.112	0.019001	0.08006	.	.	ENSG00000205669	ENST00000554229;ENST00000381139	T;T	0.28895	1.59;1.59	5.8	4.64	0.57946	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.167275	0.49305	N	0.000141	T	0.17577	0.0422	N	0.25060	0.705	0.29670	N	0.842511	B	0.14012	0.009	B	0.19946	0.027	T	0.24905	-1.0147	10	0.10111	T	0.7	4.6851	7.8009	0.29174	0.7674:0.0:0.2326:0.0	.	99	Q3I5F7	ACOT6_HUMAN	R	99	ENSP00000451464:K99R;ENSP00000370531:K99R	ENSP00000370531:K99R	K	+	2	0	ACOT6	73155968	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	1.978000	0.40598	1.002000	0.39104	0.459000	0.35465	AAG			0.433	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414437.1		NM_001037162		G	74086215	A	G	74086215	3	3	146	1	0	0	0	0	1	0	0	0	154	72	3	4	302	4	ACOT6	14	74086215	Missense_Mutation	SNP	A	TCGA-ZM-AA0H-01A-11D-A435-10	22715140	74086215	33263325	55	10719											
ATG2B	55102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr14	96761397	96761397	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaattggcactatcattttGggaaggctgttttggcccag	8	14	12	7	0	1	1	1	1	0	0	1	2	1	2	1	4	0	3	1	4	3	6			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr14:96761397G>C	ENST00000359933.4	-	36	6219	c.5326C>G	c.(5326-5328)Caa>Gaa	p.Q1776E	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1776					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)		CTATCATTTTGGGAAGGCTGT	0.448																																					p.Q1776E													.	.			0			c.C5326G												93	87	89					14																	96761397		2203	4300	6503	SO:0001583	missense	55102	exon36			CATTTTGGGAAGG	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.5326C>G	14.37:g.96761397G>C	ENSP00000353010:p.Gln1776Glu		150	0	0		152	0.13	19	NM_018036	4	0.25	1	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	5.786	0.329443	0.10956	.	.	ENSG00000066739	ENST00000359933	T	0.08984	3.03	5.12	4.23	0.50019	.	0.469944	0.23782	N	0.044617	T	0.03651	0.0104	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45234	-0.9275	10	0.02654	T	1	.	5.7247	0.18006	0.078:0.1453:0.6441:0.1326	.	1776	Q96BY7	ATG2B_HUMAN	E	1776	ENSP00000353010:Q1776E	ENSP00000261834:Q420E	Q	-	1	0	ATG2B	95831150	0.972000	0.33761	0.020000	0.16555	0.849000	0.48306	1.989000	0.40707	1.305000	0.44909	0.561000	0.74099	CAA			0.448	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000314037.1		NM_018036		C	96761397	G	C	96761397	3	2	146	1	0	0	0	0	1	0	0	0	1094	1357	47	5	938	5	ATG2B	14	96761397	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	22675182	96761397	10588143	56	10720											
FAM98B	283742	broad.mit.edu	37	chr15	38762579	38762579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaacttctgacattccGcatatgctaaaccaagtgga	14	10	6	11	1	2	1	1	1	1	0	3	2	3	2	2	1	4	2	2	1	6	4			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr15:38762579G>A	ENST00000491535.1	+	4	512	c.504G>A	c.(502-504)ccG>ccA	p.P168P	FAM98B_ENST00000397609.2_Silent_p.P168P	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CTGACATTCCGCATATGCTAA	0.303																																					p.P168P													.	FAM98B	53		0			c.G504A												53	54	54					15																	38762579		2200	4293	6493	SO:0001819	synonymous_variant	283742	exon4			CATTCCGCATATG		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.504G>A	15.37:g.38762579G>A			371	0	0		443	0.01	6	NM_001042429	9	0	0	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																					0.303	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252071.2		NM_173611		A	38762579	G	A	38762579	2	1	146	1	0	0	0	0	0	0	0	1	5670	1074	38	1		1	FAM98B	15	38762579	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		38762579	63768813	57	10721											
INO80	54617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr15	41308347	41308347	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaccctatgcccttgagacTtgagccgagtcagcaggaca	10	7	12	12	1	1	2	1	2	0	1	1	6	1	4	3	2	3	1	3	2	1	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr15:41308347T>G	ENST00000361937.3	-	27	3765	c.3341A>C	c.(3340-3342)aAg>aCg	p.K1114T	INO80_ENST00000401393.3_Missense_Mutation_p.K1114T|RP11-540O11.7_ENST00000558101.1_RNA|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1114	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						CCCTTGAGACTTGAGCCGAGT	0.532																																					p.K1114T													.	.			0			c.A3341C												103	82	89					15																	41308347		2203	4300	6503	SO:0001583	missense	54617	exon27			TGAGACTTGAGCC	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.3341A>C	15.37:g.41308347T>G	ENSP00000355205:p.Lys1114Thr		66	0	0		58	0.14	8	NM_017553	8	0.25	2	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	32	5.110567	0.94292	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.81579	-1.51;-1.51	6.03	6.03	0.97812	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89104	0.6620	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.89817	0.3986	10	0.66056	D	0.02	.	16.5594	0.84535	0.0:0.0:0.0:1.0	.	1114	Q9ULG1	INO80_HUMAN	T	1114	ENSP00000355205:K1114T;ENSP00000384686:K1114T	ENSP00000355205:K1114T	K	-	2	0	INO80	39095639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.021000	0.88750	2.313000	0.78055	0.519000	0.50382	AAG			0.532	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252527.2		NM_017553		G	41308347	T	G	41308347	3	3	146	1	0	0	0	0	1	0	0	0	7761	1609	56	4	1369	4	INO80	15	41308347	Missense_Mutation	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10	2545768	41308347	61223045	58	10722											
SLC9A3R2	9351	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	2086857	2086857	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacttcaagcggcttcgggtCacacccaccgaggagcacgt	9	6	11	15	4	2	0	2	0	0	0	3	2	2	1	2	3	2	2	2	3	1	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr16:2086857C>G	ENST00000424542.2	+	4	861	c.723C>G	c.(721-723)gtC>gtG	p.V241V	SLC9A3R2_ENST00000563587.1_Silent_p.V135V|SLC9A3R2_ENST00000566198.1_Silent_p.V130V|SLC9A3R2_ENST00000432365.2_Silent_p.V241V|NTHL1_ENST00000562951.1_5'Flank	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	241					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GGCTTCGGGTCACACCCACCG	0.672																																					p.V241V	Ovarian(69;105 1552 17724 23473)												.	.			0			c.C723G												29	41	37					16																	2086857		2125	4222	6347	SO:0001819	synonymous_variant	9351	exon4			TCGGGTCACACCC	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.723C>G	16.37:g.2086857C>G			84	0	0		96	0.07	7	NM_004785	40	0.08	3	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Silent	SNP	ENST00000424542.2	37	CCDS45382.1																																																																																					0.672	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434448.1				G	2086857	C	G	2086857	2	3	146	1	0	0	0	0	0	0	0	1	14738	813	29	5		5	SLC9A3R2	16	2086857	Silent	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10		2086857	88267896	59	10723											
RNPS1	10921	broad.mit.edu;ucsc.edu;bcgsc.ca	37	chr16	2312409	2312409	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttaattttcccataggtGgaaaatatctccatgatgtg	12	16	7	6	0	1	1	0	1	1	0	3	2	2	2	2	2	0	0	2	2	5	6			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr16:2312409G>T	ENST00000565678.1	-	6	1091	c.546C>A	c.(544-546)tcC>tcA	p.S182S	RNPS1_ENST00000567147.1_Silent_p.S159S|RNPS1_ENST00000397086.2_Silent_p.S182S|RNPS1_ENST00000320225.5_Silent_p.S182S|RNPS1_ENST00000301730.8_Silent_p.S182S|RNPS1_ENST00000566458.1_Silent_p.S159S|RNPS1_ENST00000568631.1_Silent_p.S182S|RNPS1_ENST00000561718.1_Silent_p.S5S|RNPS1_ENST00000566397.1_Silent_p.S5S|RNPS1_ENST00000569598.2_Silent_p.S88S			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	182	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TCCCATAGGTGGAAAATATCT	0.483																																					p.S182S													.	RNPS1	18		0			c.C546A												80	76	77					16																	2312409		2198	4300	6498	SO:0001819	synonymous_variant	10921	exon6			ATAGGTGGAAAAT	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"RNA binding motif (RRM) containing"	10080	protein-coding gene	gene with protein product		606447	"RNA-binding protein S1, serine-rich domain"			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.546C>A	16.37:g.2312409G>T			58	0.0172413793	1		64	0.22	14	NM_006711	46	0.33	15	A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Silent	SNP	ENST00000565678.1	37	CCDS10465.1																																																																																					0.483	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435415.1		NM_080594		T	2312409	G	T	2312409	2	4	146	1	0	0	0	0	0	0	0	1	13534	1335	47	3		3	RNPS1	16	2312409	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	225552	2312409	88042344	60	10724											
RNPS1	10921	mdanderson.org	37	chr16	2312754	2312754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacctttgtcacattcCgggtgagtctcccaatgtgc	6	13	8	14	1	3	1	2	1	1	0	6	1	5	1	4	1	1	0	4	1	1	2	rs562706355		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr16:2312754C>T	ENST00000565678.1	-	5	1054	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	RNPS1_ENST00000567147.1_Missense_Mutation_p.R147Q|RNPS1_ENST00000397086.2_Missense_Mutation_p.R170Q|RNPS1_ENST00000320225.5_Missense_Mutation_p.R170Q|RNPS1_ENST00000301730.8_Missense_Mutation_p.R170Q|RNPS1_ENST00000566458.1_Missense_Mutation_p.R147Q|RNPS1_ENST00000568631.1_Missense_Mutation_p.R170Q|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000569598.2_Missense_Mutation_p.R76Q			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	170	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TGTCACATTCCGGGTGAGTCT	0.507													C|||	1	0.000199681	0	0	5008	,	,		20183	0		0	False		,,,				2504	0.001				p.R170Q													.	.			0			c.G509A												120	101	108					16																	2312754		2198	4300	6498	SO:0001583	missense	10921	exon5			ACATTCCGGGTGA	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"RNA binding motif (RRM) containing"	10080	protein-coding gene	gene with protein product		606447	"RNA-binding protein S1, serine-rich domain"			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.509G>A	16.37:g.2312754C>T	ENSP00000457723:p.Arg170Gln		53	0	0		36	0.08	3	NM_006711	53	0	0	A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995431	0.74703	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.15952	2.38;2.38;2.38	5.95	4.99	0.66335	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.194894	0.53938	D	0.000048	T	0.32102	0.0818	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.00800	-1.1561	10	0.62326	D	0.03	-18.9283	13.2902	0.60267	0.0:0.9219:0.0:0.0781	.	147;170	Q15287-2;Q15287	.;RNPS1_HUMAN	Q	170	ENSP00000315859:R170Q;ENSP00000380275:R170Q;ENSP00000301730:R170Q	ENSP00000301730:R170Q	R	-	2	0	RNPS1	2252755	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.667000	0.68067	2.826000	0.97356	0.579000	0.79373	CGG			0.507	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435415.1		NM_080594		T	2312754	C	T	2312754	3	4	146	1	0	0	0	0	1	0	0	0	13534	652	23	1	424	1	RNPS1	16	2312754	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	345	2312754	88041999	61	10725											
CCNF	899	mdanderson.org	37	chr16	2487271	2487271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcggtgagcggaagctGctgcaaggccgtggttcacg	6	8	18	9	4	1	1	1	1	0	0	2	2	1	2	1	5	4	4	1	5	2	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr16:2487271G>T	ENST00000397066.4	+	5	576	c.488G>T	c.(487-489)tGc>tTc	p.C163F		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	163					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				AGCGGAAGCTGCTGCAAGGCC	0.652																																					p.C163F													.	.			0			c.G488T												43	39	41					16																	2487271		2198	4300	6498	SO:0001583	missense	899	exon5			GAAGCTGCTGCAA	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.488G>T	16.37:g.2487271G>T	ENSP00000380256:p.Cys163Phe		16	0	0		28	0.11	3	NM_001761	1	0	0	B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914680	0.92178	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.61742	0.08	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78989	-0.1986	10	0.87932	D	0	-28.7559	18.3739	0.90428	0.0:0.0:1.0:0.0	.	163	P41002	CCNF_HUMAN	F	163;78	ENSP00000380256:C163F	ENSP00000293968:C78F	C	+	2	0	CCNF	2427272	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.597000	0.98273	2.689000	0.91719	0.655000	0.94253	TGC			0.652	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250801.1		NM_001761		T	2487271	G	T	2487271	3	4	146	1	0	0	0	0	1	0	0	0	2924	1319	46	2	506	2	CCNF	16	2487271	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	174517	2487271	87867482	62	10726											
GTF3C1	2975	mdanderson.org	37	chr16	27544702	27544702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgaggatgtcgtatttGctcctcctgcaagaaacacc	10	11	8	12	1	0	2	0	1	0	1	4	3	3	3	4	1	3	3	4	1	3	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr16:27544702G>T	ENST00000356183.4	-	5	774	c.759C>A	c.(757-759)agC>agA	p.S253R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S253R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	253					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTCGTATTTGCTCCTCCTGC	0.468																																					p.S253R													.	.			0			c.C759A												124	102	110					16																	27544702		2197	4300	6497	SO:0001583	missense	2975	exon5			GTATTTGCTCCTC	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.759C>A	16.37:g.27544702G>T	ENSP00000348510:p.Ser253Arg		51	0	0		48	0.06	3	NM_001520	2	0	0	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513254	0.64522	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26373	1.74	5.96	3.57	0.40892	.	0.224065	0.48767	D	0.000171	T	0.33527	0.0866	L	0.29908	0.895	0.39123	D	0.961698	D;D	0.76494	0.999;0.997	D;D	0.68621	0.959;0.939	T	0.13764	-1.0497	10	0.52906	T	0.07	-4.2526	9.3473	0.38115	0.2831:0.0:0.7169:0.0	.	253;253	Q12789;Q12789-3	TF3C1_HUMAN;.	R	253;251	ENSP00000348510:S253R	ENSP00000348510:S253R	S	-	3	2	GTF3C1	27452203	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	0.719000	0.25881	1.369000	0.46134	0.650000	0.86243	AGC			0.468	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433856.1		NM_001520		T	27544702	G	T	27544702	3	4	146	1	0	0	0	0	1	0	0	0	6887	1310	46	2	5702	2	GTF3C1	16	27544702	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	25057431	27544702	62810051	63	10727											
APOB48R	55911	mdanderson.org	37	chr16	28509769	28509769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccaggtttggcctcgcGcaccctggcatgatgcagga	6	8	13	14	2	0	1	0	1	0	0	2	2	1	2	4	4	1	4	4	4	0	1	rs368617607		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr16:28509769G>A	ENST00000431282.1	+	5	3220	c.3210G>A	c.(3208-3210)gcG>gcA	p.A1070A	APOBR_ENST00000328423.5_Intron|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Silent_p.A1079A|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1070					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						TTGGCCTCGCGCACCCTGGCA	0.677																																					p.A1079A													APOBR,NS,carcinoma,+2,1	APOBR	2	1	0			c.G3237A							G		0,4062		0,0,2031	23	29	27		3210	-6.4	0	16		27	1,8305		0,1,4152	no	coding-synonymous	APOBR	NM_018690.3		0,1,6183	AA,AG,GG		0.012,0.0,0.0081		1070/1089	28509769	1,12367	2031	4153	6184	SO:0001819	synonymous_variant	55911	exon4			CCTCGCGCACCCT	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.3210G>A	16.37:g.28509769G>A			37	0	0		45	0.07	3	NM_018690	154	0	0	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																						0.677	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				NM_182804		A	28509769	G	A	28509769	2	1	146	1	0	0	0	0	0	0	0	1	786	1074	38	1		1	APOB48R	16	28509769	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	965067	28509769	61844984	64	10728											
RNF40	9810	broad.mit.edu	37	chr16	30783266	30783266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccgggctgctcgtgagaAagagagcttcaacctcaaga	12	6	13	10	2	2	3	2	1	0	3	3	6	2	3	2	1	4	3	2	1	3	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr16:30783266A>G	ENST00000324685.6	+	18	3134	c.2699A>G	c.(2698-2700)aAa>aGa	p.K900R	RNF40_ENST00000357890.5_Missense_Mutation_p.K800R|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000402121.3_Missense_Mutation_p.K592R|RNF40_ENST00000563683.1_Missense_Mutation_p.K860R	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	900					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCTCGTGAGAAAGAGAGCTTC	0.667																																					p.K900R													.	RNF40	83		0			c.A2699G												35	35	35					16																	30783266		2197	4298	6495	SO:0001583	missense	9810	exon18			GTGAGAAAGAGAG	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2699A>G	16.37:g.30783266A>G	ENSP00000325677:p.Lys900Arg		132	0	0		134	0.04	5	NM_014771	31	0	0	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	a	14.70	2.612450	0.46631	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.33865	1.39;1.41;1.4	5.72	5.72	0.89469	.	0.052214	0.85682	D	0.000000	T	0.31979	0.0814	L	0.31845	0.965	0.41235	D	0.986605	B;B;P;B;B	0.39071	0.003;0.005;0.658;0.187;0.114	B;B;B;B;B	0.40506	0.011;0.012;0.331;0.063;0.035	T	0.06698	-1.0812	10	0.30854	T	0.27	-24.8752	14.9927	0.71401	1.0:0.0:0.0:0.0	.	232;592;800;900;900	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	R	900;800;592;232	ENSP00000325677:K900R;ENSP00000350563:K800R;ENSP00000384942:K592R	ENSP00000325677:K900R	K	+	2	0	RNF40	30690767	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.910000	0.69931	2.195000	0.70347	0.529000	0.55759	AAA			0.667	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255524.2		NM_014771		G	30783266	A	G	30783266	3	3	146	1	0	0	0	0	1	0	0	0	13516	14	1	4	2765	4	RNF40	16	30783266	Missense_Mutation	SNP	A	TCGA-ZM-AA0H-01A-11D-A435-10	2273497	30783266	59571487	65	10729											
ZNF276	92822	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr16	89789843	89789843	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgactacaccatggatacCagctccagctgcaaggcctt	11	7	8	15	1	0	0	0	0	0	0	1	2	1	1	4	2	5	3	4	2	3	3	rs200666334		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr16:89789843C>G	ENST00000443381.2	+	4	829	c.732C>G	c.(730-732)acC>acG	p.T244T	ZNF276_ENST00000289816.5_Silent_p.T169T|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Missense_Mutation_p.P163R|ZNF276_ENST00000446326.2_Missense_Mutation_p.P41R	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCATGGATACCAGCTCCAGCT	0.652																																					p.T244T													.	ZNF276	70		0			c.C732G												53	43	46					16																	89789843		2197	4298	6495	SO:0001819	synonymous_variant	92822	exon4			GGATACCAGCTCC	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.732C>G	16.37:g.89789843C>G			114	0.0087719298	1		133	0.08	11	NM_001113525	15	0.13	2	Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	5.267	0.234786	0.09969	.	.	ENSG00000158805	ENST00000446326	T	0.06142	3.34	5.32	-10.3	0.00346	.	.	.	.	.	T	0.03178	0.0093	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44982	-0.9292	8	0.72032	D	0.01	-2.1199	1.9835	0.03431	0.3247:0.0924:0.3541:0.2289	.	41	A8K186	.	R	41	ENSP00000415999:P41R	ENSP00000415999:P41R	P	+	2	0	ZNF276	88317344	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-3.382000	0.00490	-1.962000	0.01014	0.561000	0.74099	CCA			0.652	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422517.1		NM_152287		G	89789843	C	G	89789843	2	3	146	1	0	0	0	0	0	0	0	1	17834	581	21	5		5	ZNF276	16	89789843	Silent	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	59006577	89789843	564910	66	10730											
SKAP1	8631	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr17	46507464	46507464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagccaacggatctcctcagGgagggcggcggcctgcattt	7	7	15	12	3	2	0	1	0	1	0	3	3	2	2	3	5	3	1	3	5	1	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr17:46507464G>A	ENST00000336915.6	-	1	88	c.19C>T	c.(19-21)Cct>Tct	p.P7S	SKAP1_ENST00000584924.1_Missense_Mutation_p.P7S	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	7					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATCTCCTCAGGGAGGGCGGCG	0.736																																					p.P7S													.	SKAP1	41		0			c.C19T												12	12	12					17																	46507464		2099	4169	6268	SO:0001583	missense	8631	exon1			CCTCAGGGAGGGC	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.19C>T	17.37:g.46507464G>A	ENSP00000338171:p.Pro7Ser		76	0	0		67	0.09	6	NM_003726	0		0	D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833653	0.32421	.	.	ENSG00000141293	ENST00000336915	T	0.32272	1.46	2.8	2.8	0.32819	.	0.304354	0.26106	U	0.026318	T	0.33614	0.0869	M	0.66939	2.045	0.35700	D	0.815568	B;P	0.47034	0.033;0.889	B;B	0.44224	0.018;0.444	T	0.51818	-0.8657	10	0.54805	T	0.06	.	10.3114	0.43710	0.0:0.0:1.0:0.0	.	7;7	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	S	7	ENSP00000338171:P7S	ENSP00000338171:P7S	P	-	1	0	SKAP1	43862463	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	4.552000	0.60747	1.408000	0.46895	0.185000	0.17295	CCT			0.736	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443432.1		NM_003726		A	46507464	G	A	46507464	3	1	146	1	0	0	0	0	1	0	0	0	14378	1232	43	3	1108	3	SKAP1	17	46507464	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		46507464	34687746	67	10731											
CASKIN2	57513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	73509845	73509845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctgcacaccggtcacatctCcattcttgacggcgaggatc	8	10	9	14	3	4	1	1	1	3	0	6	3	4	2	2	3	1	1	2	3	0	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr17:73509845C>G	ENST00000321617.3	-	2	627	c.41G>C	c.(40-42)gGa>gCa	p.G14A	TSEN54_ENST00000333213.6_5'Flank|CASKIN2_ENST00000581870.1_Missense_Mutation_p.G14A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	14						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)			GGTCACATCTCCATTCTTGAC	0.602																																					p.S14S													.	.			0			c.C41C												166	119	135					17																	73509845		2203	4300	6503	SO:0001583	missense	57513	exon2			ACATCTCCATTCT	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.41G>C	17.37:g.73509845C>G	ENSP00000325355:p.Gly14Ala		65	0	0		82	0.17	14	NM_020753	0		0	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975707	0.53720	.	.	ENSG00000177303	ENST00000321617	T	0.60424	0.19	5.01	5.01	0.66863	Ankyrin repeat-containing domain (3);	0.000000	0.41001	D	0.000966	T	0.66790	0.2825	M	0.79011	2.435	0.42632	D	0.99338	P	0.42735	0.788	P	0.46758	0.526	T	0.72494	-0.4276	10	0.59425	D	0.04	.	15.2515	0.73549	0.0:1.0:0.0:0.0	.	14	Q8WXE0	CSKI2_HUMAN	A	14	ENSP00000325355:G14A	ENSP00000325355:G14A	G	-	2	0	CASKIN2	71021440	1.000000	0.71417	0.989000	0.46669	0.823000	0.46562	3.216000	0.51176	2.332000	0.79248	0.462000	0.41574	GGA			0.602	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447609.1		NM_020753		G	73509845	C	G	73509845	3	3	146	1	0	0	0	0	1	0	0	0	2669	855	30	5	3643	5	CASKIN2	17	73509845	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	27002381	73509845	7685365	68	10732											
NPC1	4864	broad.mit.edu;bcgsc.ca	37	chr18	21119403	21119403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcgaaataatcgtcgaTccaggacgagggggcgaagc	12	5	14	10	5	0	0	0	0	0	0	4	5	1	1	2	3	1	0	2	3	3	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr18:21119403T>C	ENST00000269228.5	-	19	3381	c.2827A>G	c.(2827-2829)Atc>Gtc	p.I943V	NPC1_ENST00000540608.1_5'Flank|NPC1_ENST00000412552.2_Missense_Mutation_p.I625V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	943			I -> M (in NPC1). {ECO:0000269|PubMed:11333381}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAATCGTCGATCCAGGACGAG	0.498																																					p.I943V													.	NPC1	114		0			c.A2827G												66	56	60					18																	21119403		2203	4300	6503	SO:0001583	missense	4864	exon19			CGTCGATCCAGGA	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2827A>G	18.37:g.21119403T>C	ENSP00000269228:p.Ile943Val		115	0.0086956522	1		95	0.06	6	NM_000271	17	0	0	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306005	0.40795	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.93189	-3.18;-3.18	5.25	4.07	0.47477	.	0.051907	0.85682	D	0.000000	D	0.90283	0.6961	L	0.55103	1.725	0.54753	D	0.99998	B;B	0.10296	0.003;0.003	B;B	0.16289	0.015;0.01	D	0.85305	0.1075	10	0.31617	T	0.26	-22.3348	11.8656	0.52490	0.0:0.0:0.2767:0.7233	.	954;943	Q59GR1;O15118	.;NPC1_HUMAN	V	943;625	ENSP00000269228:I943V;ENSP00000408606:I625V	ENSP00000269228:I943V	I	-	1	0	NPC1	19373401	1.000000	0.71417	0.945000	0.38365	0.669000	0.39330	2.091000	0.41691	0.914000	0.36822	-0.313000	0.08912	ATC			0.498	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254823.2		NM_000271		C	21119403	T	C	21119403	3	2	146	1	0	0	0	0	1	0	0	0	10587	1435	50	4	1037	4	NPC1	18	21119403	Missense_Mutation	SNP	T	TCGA-ZM-AA0H-01A-11D-A435-10		21119403	56957845	69	10733											
SLC39A6	25800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr18	33696734	33696734	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcatcattttcaggtttCttctgattctaaaatagtga	11	18	5	7	0	7	2	4	2	3	0	7	2	7	2	0	1	0	1	0	1	3	7			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr18:33696734C>T	ENST00000590986.1	-	6	1657	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	SLC39A6_ENST00000269187.5_Silent_p.K456K|SLC39A6_ENST00000440549.2_Silent_p.K181K			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	456					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTTCAGGTTTCTTCTGATTCT	0.323																																					p.K456K													.	.			0			c.G1368A												136	119	125					18																	33696734		1847	4092	5939	SO:0001819	synonymous_variant	25800	exon6			AGGTTTCTTCTGA	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1368G>A	18.37:g.33696734C>T			50	0	0		73	0.18	13	NM_012319	1	0	0	B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	ENST00000590986.1	37	CCDS42428.1																																																																																					0.323	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000444136.1				T	33696734	C	T	33696734	2	4	146	1	0	0	0	0	0	0	0	1	14645	912	32	3		3	SLC39A6	18	33696734	Silent	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	12577331	33696734	44380514	70	10734											
VPS4B	9525	broad.mit.edu	37	chr18	61067303	61067303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttgcactaggaactcCgtcttaattctacgtgcggc	8	13	9	11	3	2	0	0	0	2	0	3	1	3	1	1	2	5	2	1	2	4	5	rs146071226		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr18:61067303C>T	ENST00000238497.5	-	7	971	c.768G>A	c.(766-768)acG>acA	p.T256T	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	256					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						CTAGGAACTCCGTCTTAATTC	0.438																																					p.T256T													.	VPS4B	33		0			c.G768A							C		3,4403	6.2+/-15.9	0,3,2200	71	74	73		768	-11.9	0.3	18	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	VPS4B	NM_004869.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		256/445	61067303	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9525	exon7			GAACTCCGTCTTA	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.768G>A	18.37:g.61067303C>T			147	0	0		146	0.02	3	NM_004869	1	0	0	Q69HW4|Q9GZS7	Silent	SNP	ENST00000238497.5	37	CCDS11983.1																																																																																					0.438	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256198.2		NM_004869		T	61067303	C	T	61067303	2	4	146	1	0	0	0	0	0	0	0	1	17237	639	23	1		1	VPS4B	18	61067303	Silent	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	27370569	61067303	17009945	71	10735											
CD226	10666	mdanderson.org	37	chr18	67563188	67563188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacctcactgcctgcacaGgccacgtcatctgaggctga	8	7	9	17	1	3	2	2	2	1	0	3	2	3	2	4	2	2	2	4	2	0	0			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr18:67563188G>T	ENST00000280200.4	-	4	744	c.476C>A	c.(475-477)cCt>cAt	p.P159H	CD226_ENST00000577287.1_Missense_Mutation_p.P4H|CD226_ENST00000581982.1_Missense_Mutation_p.P4H|CD226_ENST00000582621.1_Missense_Mutation_p.P159H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	159	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TGCCTGCACAGGCCACGTCAT	0.488																																					p.P159H	NSCLC(184;838 2130 8673 21498 50749)												.	.			0			c.C476A												109	92	97					18																	67563188		2203	4300	6503	SO:0001583	missense	10666	exon4			TGCACAGGCCACG	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.476C>A	18.37:g.67563188G>T	ENSP00000280200:p.Pro159His		49	0	0		50	0.06	3	NM_006566	2	0	0	B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733590	0.48939	.	.	ENSG00000150637	ENST00000280200	T	0.19394	2.15	5.09	-3.97	0.04094	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.316600	0.04774	N	0.428611	T	0.31827	0.0809	L	0.56769	1.78	0.09310	N	1	D	0.71674	0.998	D	0.64042	0.921	T	0.37957	-0.9683	10	0.66056	D	0.02	.	0.5455	0.00653	0.3499:0.1234:0.2753:0.2514	.	159	Q15762	CD226_HUMAN	H	159	ENSP00000280200:P159H	ENSP00000280200:P159H	P	-	2	0	CD226	65714168	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.017000	0.13399	-0.924000	0.03780	0.650000	0.86243	CCT			0.488	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256226.3		NM_006566		T	67563188	G	T	67563188	3	4	146	1	0	0	0	0	1	0	0	0	2988	1000	35	3	550	3	CD226	18	67563188	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	6495885	67563188	10514060	72	10736											
MCOLN1	57192	mdanderson.org	37	chr19	7594053	7594053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctggtgtgggtgggcGtgatccgctacctgaccttc	3	11	15	12	3	0	2	0	2	0	0	2	2	1	2	3	3	2	3	3	3	1	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr19:7594053G>A	ENST00000264079.6	+	10	1326	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	401					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						GTGGGTGGGCGTGATCCGCTA	0.572																																					p.V401M													.	.			0			c.G1201A												108	98	101					19																	7594053		2203	4300	6503	SO:0001583	missense	57192	exon10			GTGGGCGTGATCC	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.1201G>A	19.37:g.7594053G>A	ENSP00000264079:p.Val401Met		49	0	0		46	0.07	3	NM_020533	33	0	0	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668544	0.88348	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.71934	-0.61	5.27	5.27	0.74061	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.69248	2.105	0.80722	D	1	D;D	0.69078	0.969;0.997	P;D	0.64237	0.713;0.923	T	0.82374	-0.0489	10	0.52906	T	0.07	.	16.364	0.83307	0.0:0.0:1.0:0.0	.	366;401	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	M	401;366	ENSP00000264079:V401M	ENSP00000264079:V401M	V	+	1	0	MCOLN1	7500053	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.473000	0.97714	2.459000	0.83118	0.561000	0.74099	GTG			0.572	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458974.2		NM_020533		A	7594053	G	A	7594053	3	1	146	1	0	0	0	0	1	0	0	0	9411	1145	40	1	1239	1	MCOLN1	19	7594053	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		7594053	51534930	73	10737											
MUC16	94025	mdanderson.org	37	chr19	9057408	9057408	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctagttttttccacaaagAgagagctcttccatgatgga	12	12	9	8	0	1	3	0	1	1	2	3	5	3	4	2	1	2	3	2	1	2	5	rs1423051	byFrequency	TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr19:9057408A>T	ENST00000397910.4	-	3	30241	c.30038T>A	c.(30037-30039)cTc>cAc	p.L10013H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10015	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						TTCCACAAAGAGAGAGCTCTT	0.448																																					p.L10013H													.	.			0			c.T30038A												73	72	72					19																	9057408		1937	4135	6072	SO:0001583	missense	94025	exon3			ACAAAGAGAGAGC	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.30038T>A	19.37:g.9057408A>T	ENSP00000381008:p.Leu10013His		63	0	0		66	0.05	3	NM_024690	0		0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.060	0.008952	0.07912	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	2.32	-1.88	0.07713	.	.	.	.	.	T	0.11623	0.0283	N	0.08118	0	.	.	.	P	0.42620	0.785	B	0.43950	0.437	T	0.25950	-1.0117	8	0.87932	D	0	.	7.239	0.26086	0.6911:0.0:0.3089:0.0	.	10013	B5ME49	.	H	10013	ENSP00000381008:L10013H	ENSP00000381008:L10013H	L	-	2	0	MUC16	8918408	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.002000	0.12924	-0.777000	0.04572	-0.349000	0.07799	CTC			0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690		T	9057408	A	T	9057408	3	4	146	1	0	0	0	0	1	0	0	0	9989	304	11	5	13813	5	MUC16	19	9057408	Missense_Mutation	SNP	A	TCGA-ZM-AA0H-01A-11D-A435-10	1463355	9057408	50071575	74	10738											
CCDC151	115948	broad.mit.edu;mdanderson.org	37	chr19	11534699	11534699	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggtgctcgcggtgggtCtgctcgtgggttgaggtcag	4	10	19	8	3	2	1	1	1	1	0	4	1	2	1	0	5	3	4	0	5	0	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr19:11534699C>G	ENST00000356392.4	-	8	1051		c.e8-1		CCDC151_ENST00000586836.1_Splice_Site|CCDC151_ENST00000545100.1_Splice_Site|CCDC151_ENST00000591179.1_Splice_Site	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151											endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CGCGGTGGGTCTGCTCGTGGG	0.662																																					.													.	CCDC151	44		0			c.964-1G>C												98	107	104					19																	11534699		2135	4253	6388	SO:0001630	splice_region_variant	115948	exon9			GTGGGTCTGCTCG		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.964-1G>C	19.37:g.11534699C>G			22	0	0		27	0.11	3	NM_145045	0		0	B4DXT0|Q96CG5	Splice_Site	SNP	ENST00000356392.4	37	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269635	0.40095	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3955	0.49838	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC151	11395699	1.000000	0.71417	0.980000	0.43619	0.073000	0.16967	3.381000	0.52455	2.126000	0.65437	0.491000	0.48974	.			0.662	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458800.1		NM_145045	Intron	G	11534699	C	G	11534699	5	3	146	1	0	0	0	0	0	0	1	0	2788	927	32	5	848	5	CCDC151	19	11534699	Splice_Site	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	2477291	11534699	47594284	75	10739											
NFIX	4784	mdanderson.org	37	chr19	13192670	13192670	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggccaggccaccggacagGtgagtccagagggccccagg	8	2	17	14	2	0	2	0	1	0	1	1	3	1	3	6	6	0	0	6	6	0	0			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr19:13192670G>T	ENST00000592199.1	+	8	1254		c.e8+1		NFIX_ENST00000397661.2_Splice_Site|NFIX_ENST00000587760.1_Splice_Site|NFIX_ENST00000588228.1_Splice_Site|NFIX_ENST00000358552.3_Splice_Site|NFIX_ENST00000360105.4_Splice_Site|NFIX_ENST00000587260.1_Splice_Site|NFIX_ENST00000585575.1_Splice_Site			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)						astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|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)	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)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACCGGACAGGTGAGTCCAGA	0.632											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.													.	.			0			c.1254+1G>T												33	35	35					19																	13192670		1964	4132	6096	SO:0001630	splice_region_variant	4784	exon8			GGACAGGTGAGTC	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1254+1G>T	19.37:g.13192670G>T			39	0	0	685	43	0.07	3	NM_002501	0		0	B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Splice_Site	SNP	ENST00000592199.1	37		.	.	.	.	.	.	.	.	.	.	G	29.2	4.987342	0.93106	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8323	0.92145	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFIX	13053670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.079000	0.94032	2.755000	0.94549	0.655000	0.94253	.			0.632	NFIX-013	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000452763.1		NM_002501	Intron	T	13192670	G	T	13192670	5	4	146	1	0	0	0	0	0	0	1	0	10391	1275	44	3	1285	3	NFIX	19	13192670	Splice_Site	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	1657971	13192670	45936313	76	10740											
SPINT2	10653	bcgsc.ca	37	chr19	38779803	38779807	+	Frame_Shift_Del	DEL	CCACT	CCACT	-																															agaaggcaggattctgaagaCcactccagcgatatgttcaa																										TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	CCACT	CCACT					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr19:38779803_38779807delCCACT	ENST00000301244.7	+	4	798_802	c.363_367delCCACT	c.(361-369)gaccactccfs	p.HS122fs	CTB-102L5.4_ENST00000591889.1_5'Flank|SPINT2_ENST00000454580.3_Frame_Shift_Del_p.HS65fs|SPINT2_ENST00000587090.1_Frame_Shift_Del_p.HS72fs	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	122					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTCTGAAGACCACTCCAGCGATAT	0.556																																					p.121_123del													.	SPINT2	17		0			c.363_367del																																									SO:0001589	frameshift_variant	10653	exon4			TGAAGACCACTCC	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"placental bikunin"	605124	"serine protease inhibitor, Kunitz type, 2"			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.363_367delCCACT	19.37:g.38779803_38779807delCCACT	ENSP00000301244:p.His122fs		76	0	0		59	0.08	5	NM_021102	135	0	0	A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Frame_Shift_Del	DEL	ENST00000301244.7	37	CCDS12510.1																																																																																					0.556	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458151.2				-	38779807	CCACT	-	38779803	7	5	146	1	0	1	0	1	0	0	0	0	15092	506	18	0	377	0	SPINT2	19	38779803	Frame_Shift_Del	DEL	CCACT	TCGA-ZM-AA0H-01A-11D-A435-10	25587133	38779803	20349180	77	10741											
GMFG	9535	mdanderson.org	37	chr19	39819174	39819174	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgaggtcatcagtggtGcggatttcgaacacctgggc	8	10	14	9	2	3	1	3	1	0	0	4	3	3	2	1	4	2	0	1	4	1	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr19:39819174G>T	ENST00000597595.1	-	7	580	c.372C>A	c.(370-372)cgC>cgA	p.R124R	GMFG_ENST00000601387.1_Silent_p.R83R|GMFG_ENST00000595636.1_3'UTR|GMFG_ENST00000598034.1_3'UTR|GMFG_ENST00000594700.1_Silent_p.R55R|GMFG_ENST00000602185.1_Silent_p.R75R|GMFG_ENST00000600322.1_Silent_p.R91R|GMFG_ENST00000253054.8_Silent_p.R91R	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	124	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CATCAGTGGTGCGGATTTCGA	0.522																																					p.R124R													.	.			0			c.C372A												107	95	99					19																	39819174		2203	4300	6503	SO:0001819	synonymous_variant	9535	exon7			AGTGGTGCGGATT	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.372C>A	19.37:g.39819174G>T			43	0	0		43	0.07	3	NM_004877	491	0	0	Q6IB37	Silent	SNP	ENST00000597595.1	37	CCDS12532.1																																																																																					0.522	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463839.1				T	39819174	G	T	39819174	2	4	146	1	0	0	0	0	0	0	0	1	6504	1306	46	2		2	GMFG	19	39819174	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	1039371	39819174	19309809	78	10742											
LTBP4	8425	mdanderson.org	37	chr19	41128450	41128450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgctactttgacacagCggccccggatgcatgtgaca	9	8	13	11	2	0	2	0	2	0	0	0	4	0	4	2	3	4	2	2	3	1	2			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr19:41128450C>T	ENST00000308370.7	+	27	3560	c.3560C>T	c.(3559-3561)gCg>gTg	p.A1187V	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.A1120V|LTBP4_ENST00000204005.9_Missense_Mutation_p.A1150V|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.A555V	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1188	TB 3.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTGACACAGCGGCCCCGGAT	0.687																																					.													.	.			0			.												36	39	38					19																	41128450		2037	4188	6225	SO:0001583	missense	8425	.			ACACAGCGGCCCC	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3560C>T	19.37:g.41128450C>T	ENSP00000311905:p.Ala1187Val		56	0	0		47	0.06	3	.	41	0	0	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	C	14.45	2.538627	0.45176	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	3.89	2.75	0.32379	Matrix fibril-associated (2);TGF-beta binding (1);	0.225320	0.22602	N	0.057948	D	0.85902	0.5805	.	.	.	0.21220	N	0.999758	P;D;D;D;D	0.69078	0.458;0.981;0.997;0.995;0.995	B;B;P;P;B	0.47430	0.042;0.318;0.547;0.507;0.41	T	0.76091	-0.3086	9	0.17369	T	0.5	.	6.2016	0.20579	0.3266:0.5029:0.1705:0.0	.	200;408;1120;1188;1150	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	V	1150;555;1187;1120	ENSP00000204005:A1150V;ENSP00000441054:A555V;ENSP00000311905:A1187V;ENSP00000380031:A1120V	ENSP00000204005:A1150V	A	+	2	0	LTBP4	45820290	0.000000	0.05858	0.164000	0.22755	0.928000	0.56348	-0.063000	0.11655	2.168000	0.68352	0.462000	0.41574	GCG			0.687	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_003573		T	41128450	C	T	41128450	3	4	146	1	0	0	0	0	1	0	0	0	9092	768	27	1	3957	1	LTBP4	19	41128450	Missense_Mutation	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	1309276	41128450	18000533	79	10743											
POU2F2	5452	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	42599534	42599534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttctggcgccggttgcaGaaccagacgcggatcacttc	7	9	11	14	4	2	2	1	0	1	2	4	3	3	3	3	3	2	2	3	3	1	3	rs369799078		TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr19:42599534G>A	ENST00000526816.2	-	11	1050	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	POU2F2_ENST00000529067.1_Silent_p.F329F|POU2F2_ENST00000560558.1_Silent_p.F290F|POU2F2_ENST00000389341.5_Silent_p.F329F|POU2F2_ENST00000529952.1_Silent_p.F345F|POU2F2_ENST00000342301.4_Silent_p.F345F|POU2F2_ENST00000560398.1_Silent_p.F351F|POU2F2_ENST00000533720.1_Silent_p.F329F			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	345					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)	GCCGGTTGCAGAACCAGACGC	0.622																																					p.F345F													.	POU2F2	106		0			c.C1035T							G	,,	1,4405	2.1+/-5.4	0,1,2202	58	54	55		1035,1035,987	4	1	19		55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	POU2F2	NM_001207025.1,NM_001207026.1,NM_002698.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	345/480,345/468,329/464	42599534	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5452	exon11			GTTGCAGAACCAG		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.1035C>T	19.37:g.42599534G>A			26	0	0		44	0.16	7	NM_001207025	3	0	0	Q16648|Q7M4M8|Q9BRS4	Silent	SNP	ENST00000526816.2	37	CCDS56095.1																																																																																					0.622	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000387329.3				A	42599534	G	A	42599534	2	1	146	1	0	0	0	0	0	0	0	1	12289	933	33	3		3	POU2F2	19	42599534	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	1471084	42599534	16529449	80	10744											
ZNF283	284349	mdanderson.org	37	chr19	44352551	44352551	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactaatgagaagtcttatGaatgtaaagactgtgggaag	16	11	11	3	0	1	3	0	2	1	2	1	5	1	4	0	1	1	1	0	1	8	4			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr19:44352551G>T	ENST00000324461.7	+	7	2095	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.E461*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	600					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(3)|lung(4)	8		Prostate(69;0.0352)				GAAGTCTTATGAATGTAAAGA	0.423																																					p.E600X													.	.			0			c.G1798T												89	98	95					19																	44352551		2156	4281	6437	SO:0001587	stop_gained	284349	exon7			TCTTATGAATGTA	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1798G>T	19.37:g.44352551G>T	ENSP00000327314:p.Glu600*		70	0	0		81	0.06	5	NM_181845	6	0	0	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Nonsense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575881	0.65878	.	.	ENSG00000167637	ENST00000324461	.	.	.	2.2	1.08	0.20341	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	6.5247	0.22295	0.2724:0.0:0.7276:0.0	.	.	.	.	X	600	.	ENSP00000327314:E600X	E	+	1	0	ZNF283	49044391	0.000000	0.05858	0.232000	0.24009	0.127000	0.20565	-1.677000	0.01944	0.439000	0.26476	0.563000	0.77884	GAA			0.423	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459909.1		NM_181845		T	44352551	G	T	44352551	4	4	146	1	0	0	0	0	0	1	0	0	17843	1291	45	3	1812	3	ZNF283	19	44352551	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	1753017	44352551	14776432	81	10745											
CDC25B	994	mdanderson.org	37	chr20	3785522	3785522	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgaggccttcaaggatGagctaaagaccttccgcctc	11	7	9	14	2	1	2	1	1	0	1	3	4	2	3	5	2	1	1	5	2	3	3			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr20:3785522G>T	ENST00000245960.5	+	16	2354	c.1657G>T	c.(1657-1659)Gag>Tag	p.E553*	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Nonsense_Mutation_p.E462*|CDC25B_ENST00000439880.2_Nonsense_Mutation_p.E539*|CDC25B_ENST00000344256.6_Nonsense_Mutation_p.E489*|CDC25B_ENST00000340833.4_Nonsense_Mutation_p.E512*	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	553					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CTTCAAGGATGAGCTAAAGAC	0.622																																					p.E553X													.	.			0			c.G1657T												88	84	85					20																	3785522		2203	4300	6503	SO:0001587	stop_gained	994	exon16			AAGGATGAGCTAA		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1657G>T	20.37:g.3785522G>T	ENSP00000245960:p.Glu553*		33	0	0		41	0.07	3	NM_021873	50	0	0	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Nonsense_Mutation	SNP	ENST00000245960.5	37	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	37	6.089292	0.97271	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	.	.	.	5.2	4.24	0.50183	.	0.266265	0.34002	N	0.004358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.0759	12.5559	0.56252	0.0:0.321:0.6789:0.0	.	.	.	.	X	489;462;553;539;512	.	ENSP00000245960:E553X	E	+	1	0	CDC25B	3733522	1.000000	0.71417	0.489000	0.27452	0.770000	0.43624	3.814000	0.55643	1.303000	0.44873	0.563000	0.77884	GAG			0.622	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077779.2		NM_021874		T	3785522	G	T	3785522	4	4	146	1	0	0	0	0	0	1	0	0	3065	1291	45	3	1719	3	CDC25B	20	3785522	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		3785522	59239998	82	10746											
GART	2618	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr21	34889725	34889725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggagggaagattttgcCacgattttcctcacaaggct	10	12	10	9	1	1	1	1	0	0	1	2	4	2	3	2	3	2	1	2	3	3	5			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr21:34889725C>T	ENST00000381831.3	-	15	2156	c.1893G>A	c.(1891-1893)gtG>gtA	p.V631V	GART_ENST00000381839.3_Silent_p.V631V|GART_ENST00000543717.1_Silent_p.V183V|GART_ENST00000381815.4_Silent_p.V631V	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	631	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|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)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AAGATTTTGCCACGATTTTCC	0.453																																					p.V631V													.	.			0			c.G1893A												163	155	158					21																	34889725		2203	4300	6503	SO:0001819	synonymous_variant	2618	exon15			TTTTGCCACGATT	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1893G>A	21.37:g.34889725C>T			73	0	0		65	0.08	5	NM_001136005	26	0.15	4	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	CCDS13627.1																																																																																					0.453	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000140626.3		NM_000819		T	34889725	C	T	34889725	2	4	146	1	0	0	0	0	0	0	0	1	6257	581	21	3		3	GART	21	34889725	Silent	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10		34889725	13240170	83	10747											
TTC3	7267	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr21	38468893	38468893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttaagacctgaaaactaCcttctttatggtaaccgagc	12	14	6	9	1	1	2	0	1	1	1	1	3	1	2	3	1	4	1	3	1	6	8			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr21:38468893C>T	ENST00000399017.2	+	10	3542	c.795C>T	c.(793-795)taC>taT	p.Y265Y	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Silent_p.Y265Y|TTC3_ENST00000354749.2_Silent_p.Y265Y|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Silent_p.Y265Y	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	265					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)				CTGAAAACTACCTTCTTTATG	0.323																																					p.Y265Y	Ovarian(38;194 1649 35661)												.	.			0			c.C795T												129	118	122					21																	38468893		2202	4299	6501	SO:0001819	synonymous_variant	7267	exon10			AAACTACCTTCTT	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.795C>T	21.37:g.38468893C>T			108	0	0		168	0.1	16	NM_001001894	17	0.12	2	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	CCDS13651.1																																																																																					0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194776.1				T	38468893	C	T	38468893	2	4	146	1	0	0	0	0	0	0	0	1	16721	518	18	3		3	TTC3	21	38468893	Silent	SNP	C	TCGA-ZM-AA0H-01A-11D-A435-10	3579168	38468893	9661002	84	10748											
MYO18B	84700	mdanderson.org	37	chr22	26173563	26173563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtgcccaagggccGccgggatggcctgcctgccc	4	5	15	17	2	0	0	0	0	0	0	0	1	0	1	7	4	4	1	7	4	1	0	rs574569033	byFrequency	TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr22:26173563G>A	ENST00000407587.2	+	8	2052	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H	MYO18B_ENST00000335473.7_Missense_Mutation_p.R628H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R628H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	628	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						CCCAAGGGCCGCCGGGATGGC	0.652													G|||	3	0.000599042	0	0	5008	,	,		20127	0.003		0	False		,,,				2504	0				p.R628H													.	.			0			c.G1883A												24	28	27					22																	26173563		2025	4194	6219	SO:0001583	missense	84700	exon8			AGGGCCGCCGGGA	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.1883G>A	22.37:g.26173563G>A	ENSP00000386096:p.Arg628His		42	0	0		36	0.08	3	NM_032608	0		0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	17.34	3.364596	0.61513	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87571	-2.27;-2.27;-2.27	5.38	3.2	0.36748	Myosin head, motor domain (2);	0.327175	0.28273	N	0.015952	D	0.89164	0.6637	M	0.64404	1.975	0.09310	N	1	D;D;D;D	0.89917	0.983;1.0;0.997;0.999	P;D;P;P	0.66351	0.584;0.943;0.862;0.905	T	0.80046	-0.1546	10	0.72032	D	0.01	.	3.3544	0.07164	0.1449:0.1415:0.5676:0.146	.	141;628;628;628	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	H	628	ENSP00000441229:R628H;ENSP00000334563:R628H;ENSP00000386096:R628H	ENSP00000334563:R628H	R	+	2	0	MYO18B	24503563	0.004000	0.15560	0.032000	0.17829	0.078000	0.17371	1.011000	0.29911	0.577000	0.29470	0.655000	0.94253	CGC			0.652	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000400691.1		NM_032608		A	26173563	G	A	26173563	3	1	146	1	0	0	0	0	1	0	0	0	10082	1087	38	1	1909	1	MYO18B	22	26173563	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		26173563	25131003	85	10749											
LMF2	91289	mdanderson.org	37	chr22	50944795	50944795	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggaacagcagccatcGcaccagccagaaggggaggt	12	2	16	11	2	0	1	0	0	0	1	1	4	0	3	3	5	4	2	3	5	2	0			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chr22:50944795G>T	ENST00000474879.2	-	4	529	c.514C>A	c.(514-516)Cga>Aga	p.R172R	LMF2_ENST00000216080.5_Silent_p.R147R|NCAPH2_ENST00000395701.3_5'Flank|NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Silent_p.R172R|NCAPH2_ENST00000420993.2_5'Flank|NCAPH2_ENST00000299821.11_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	172						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAGCCATCGCACCAGCCAG	0.716																																					p.R172R													.	.			0			c.C514A												15	13	14					22																	50944795		2060	4072	6132	SO:0001819	synonymous_variant	91289	exon4			GCCATCGCACCAG	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.514C>A	22.37:g.50944795G>T			15	0	0		27	0.11	3	NM_033200	18	0	0	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	ENST00000474879.2	37	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	g	11.60	1.686350	0.29962	.	.	ENSG00000100258	ENST00000487499	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	T	0.72020	0.3409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71771	-0.4492	4	.	.	.	-1.7379	16.5741	0.84632	0.0:0.0:1.0:0.0	.	.	.	.	E	178	.	.	A	-	2	0	LMF2	49291661	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.380000	0.59581	2.331000	0.79229	0.651000	0.88453	GCG			0.716	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316833.2		NM_033200		T	50944795	G	T	50944795	2	4	146	1	0	0	0	0	0	0	0	1	8861	1095	38	1		1	LMF2	22	50944795	Silent	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10	24771232	50944795	359771	86	10750											
ABCD1	215	mdanderson.org	37	chrX	153008788	153008788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctctccatcacccaccGgccctccctgtggtaggtgc	4	9	9	19	1	2	0	1	0	1	0	4	0	3	0	6	3	2	2	6	3	1	1			TCGA-ZM-AA0H-01A-11D-A435-10	TCGA-ZM-AA0H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4d6bc81-a99b-4529-bdcc-1b06b8a0cb17	279b58a7-0a6f-44f8-bf5c-d16e07ee0dfb	g.chrX:153008788G>A	ENST00000218104.3	+	9	2378	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	660	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> P (in ALD; CALD-type). {ECO:0000269|PubMed:11438993}.|R -> Q (in ALD). {ECO:0000269|PubMed:21889498}.|R -> W (in ALD; CALD, ALMD and AS-types).		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)					ATCACCCACCGGCCCTCCCTG	0.692																																					p.R660Q													.	.			0			c.G1979A	GRCh37	CM012042	ABCD1	M								19	16	17					X																	153008788		2189	4274	6463	SO:0001583	missense	215	exon9			CCCACCGGCCCTC	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.1979G>A	X.37:g.153008788G>A	ENSP00000218104:p.Arg660Gln		28	0	0		36	0.08	3	NM_000033	43	0	0	Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839976	0.91117	.	.	ENSG00000101986	ENST00000218104	D	0.99855	-7.2	4.69	4.69	0.59074	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000017	D	0.99862	0.9935	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96260	0.9190	10	0.87932	D	0	-33.9595	15.8397	0.78835	0.0:0.0:1.0:0.0	.	660	P33897	ABCD1_HUMAN	Q	660	ENSP00000218104:R660Q	ENSP00000218104:R660Q	R	+	2	0	ABCD1	152661982	1.000000	0.71417	0.994000	0.49952	0.613000	0.37349	9.349000	0.97066	2.073000	0.62155	0.523000	0.50628	CGG			0.692	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061041.1		NM_000033		A	153008788	G	A	153008788	3	1	146	1	0	0	0	0	1	0	0	0	60	1116	39	1	2013	1	ABCD1	23	153008788	Missense_Mutation	SNP	G	TCGA-ZM-AA0H-01A-11D-A435-10		153008788	2261772	87	10751											
FAM176B	55194	mdanderson.org	37	chr1	36788207	36788207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgggggtcccggcgctgagCcgggccccggggccgcgggc	1	2	22	16	7	0	1	0	1	0	0	1	1	1	1	5	7	1	1	5	7	0	0			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr1:36788207C>T	ENST00000270824.1	-	3	478	c.187G>A	c.(187-189)Gct>Act	p.A63T	RP11-268J15.5_ENST00000373137.2_5'Flank|EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	63						integral component of membrane (GO:0016021)											CGGCGCTGAgccgggccccgg	0.736																																					p.A63T													.	.			0			c.G187A												3	4	4					1																	36788207		1707	3492	5199	SO:0001583	missense	55194	exon3			GCTGAGCCGGGCC	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 78", "family with sequence similarity 176, member B"	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.187G>A	1.37:g.36788207C>T	ENSP00000270824:p.Ala63Thr		15	0	0		18	0.11	2	NM_018166	28	0	0	D3DPS7	Missense_Mutation	SNP	ENST00000270824.1	37	CCDS406.1	.	.	.	.	.	.	.	.	.	.	C	8.861	0.946913	0.18356	.	.	ENSG00000142694	ENST00000270824	T	0.42513	0.97	4.79	1.78	0.24846	.	2.913430	0.01316	N	0.010782	T	0.25680	0.0625	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11567	-1.0582	10	0.18276	T	0.48	-0.6156	3.8753	0.09054	0.1437:0.4246:0.3402:0.0915	.	63	Q9NVM1	F176B_HUMAN	T	63	ENSP00000270824:A63T	ENSP00000270824:A63T	A	-	1	0	FAM176B	36560794	0.016000	0.18221	0.002000	0.10522	0.393000	0.30537	1.328000	0.33758	0.076000	0.16826	-0.521000	0.04368	GCT			0.736	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021689.1		NM_018166		T	36788207	C	T	36788207	3	4	147	1	0	0	0	0	1	0	0	0	5510	739	26	2	314	2	FAM176B	1	36788207	Missense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10		36788207	212462414	1	10752											
EPS8L3	79574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr1	110300454	110300454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagctgtgcttgatcttctgGaagcagtcaatgtactgtgc	9	13	11	8	0	3	1	1	1	2	0	3	2	3	2	0	1	5	4	0	1	4	3			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr1:110300454G>T	ENST00000361965.4	-	10	970	c.864C>A	c.(862-864)ttC>ttA	p.F288L	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Missense_Mutation_p.F288L|EPS8L3_ENST00000369805.3_Missense_Mutation_p.F289L	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	288						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGATCTTCTGGAAGCAGTCAA	0.587																																					p.F289L													.	.			0			c.C867A												142	139	140					1																	110300454		2203	4300	6503	SO:0001583	missense	79574	exon10			CTTCTGGAAGCAG	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.864C>A	1.37:g.110300454G>T	ENSP00000355255:p.Phe288Leu		124	0	0		164	0.16	27	NM_139053	0		0	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257649	0.39896	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.58940	2.74;0.31;0.3	5.42	3.54	0.40534	.	0.118422	0.56097	N	0.000035	T	0.18087	0.0434	N	0.25031	0.7	0.40633	D	0.981871	B;B;B;B	0.27997	0.001;0.008;0.003;0.197	B;B;B;B	0.30716	0.007;0.015;0.01;0.119	T	0.08493	-1.0719	10	0.07325	T	0.83	-15.4928	7.8941	0.29695	0.0825:0.0:0.7577:0.1599	.	288;288;288;289	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	L	288;289;288	ENSP00000354551:F288L;ENSP00000358820:F289L;ENSP00000355255:F288L	ENSP00000354551:F288L	F	-	3	2	EPS8L3	110101977	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.112000	0.31172	0.657000	0.30906	-0.175000	0.13238	TTC			0.587	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000032234.1		NM_024526		T	110300454	G	T	110300454	3	4	147	1	0	0	0	0	1	0	0	0	5204	1165	41	3	957	3	EPS8L3	1	110300454	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	73512247	110300454	138950167	2	10753											
PRG4	10216	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr1	186276725	186276725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacccccaagaagctcaCgcccaccacccccgagaagc	12	1	6	22	2	1	2	1	0	0	2	1	3	1	2	7	0	2	1	7	0	3	0			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr1:186276725C>T	ENST00000445192.2	+	7	1919	c.1874C>T	c.(1873-1875)aCg>aTg	p.T625M	PRG4_ENST00000367485.4_Missense_Mutation_p.T532M|PRG4_ENST00000367486.3_Missense_Mutation_p.T582M|PRG4_ENST00000367483.4_Missense_Mutation_p.T584M|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	625	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAGAAGCTCACGCCCACCACC	0.677																																					p.T625M													.	PRG4	259		0			c.C1874T												48	45	46					1																	186276725		2203	4294	6497	SO:0001583	missense	10216	exon7			AGCTCACGCCCAC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1874C>T	1.37:g.186276725C>T	ENSP00000399679:p.Thr625Met		40	0	0		58	0.12	7	NM_005807	0		0	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	5.758	0.324196	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05382	3.46;3.6;3.45;3.6	3.23	-1.82	0.07857	.	1.111380	0.07330	U	0.879101	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	D;D;P;D	0.52996	0.957;0.957;0.928;0.957	B;B;B;B	0.42245	0.381;0.381;0.211;0.381	T	0.35822	-0.9773	9	.	.	.	.	3.6019	0.08028	0.3324:0.4493:0.0:0.2184	.	491;532;625;584	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	M	582;491;584;532;625	ENSP00000356456:T582M;ENSP00000356453:T584M;ENSP00000356455:T532M;ENSP00000399679:T625M	.	T	+	2	0	PRG4	184543348	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.084000	0.14891	-0.345000	0.08325	0.449000	0.29647	ACG			0.677	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000086346.1		NM_005807		T	186276725	C	T	186276725	3	4	147	1	0	0	0	0	1	0	0	0	12501	536	19	1	1896	1	PRG4	1	186276725	Missense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	75976271	186276725	62973896	3	10754											
VWA3B	200403	mdanderson.org	37	chr2	98810929	98810929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaagataatttggaacagGctcagtcctggattagagac	14	10	11	6	0	1	3	1	1	0	2	2	6	2	5	1	3	1	1	1	3	4	3			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr2:98810929G>T	ENST00000477737.1	+	12	1915	c.1711G>T	c.(1711-1713)Gct>Tct	p.A571S	VWA3B_ENST00000435344.1_Missense_Mutation_p.A571S|VWA3B_ENST00000451075.2_Missense_Mutation_p.A421S	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	571	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						TTTGGAACAGGCTCAGTCCTG	0.423																																					p.A571S													.	.			0			c.G1711T												178	177	177					2																	98810929		1887	4121	6008	SO:0001583	missense	200403	exon12			GAACAGGCTCAGT	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.1711G>T	2.37:g.98810929G>T	ENSP00000417955:p.Ala571Ser		72	0	0		47	0.06	3	NM_144992	0		0	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362493	0.82353	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.10668	2.85;2.85;2.85	5.13	5.13	0.70059	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000002	T	0.38348	0.1037	M	0.82193	2.58	0.33585	D	0.600388	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.994;0.998	T	0.55289	-0.8164	10	0.87932	D	0	.	17.7275	0.88369	0.0:0.0:1.0:0.0	.	421;571;571;571	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	S	571;571;421	ENSP00000401959:A571S;ENSP00000417955:A571S;ENSP00000389463:A421S	ENSP00000388158:A571S	A	+	1	0	VWA3B	98177361	1.000000	0.71417	0.535000	0.28026	0.896000	0.52359	6.673000	0.74482	2.563000	0.86464	0.555000	0.69702	GCT			0.423	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353469.2		NM_144992		T	98810929	G	T	98810929	3	4	147	1	0	0	0	0	1	0	0	0	17265	1203	42	2	1753	2	VWA3B	2	98810929	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		98810929	144388444	4	10755											
IL18RAP	8807	broad.mit.edu	37	chr2	103067331	103067331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggattttgatgctttcGtatcctatgcaaaatggagc	13	13	9	6	1	0	1	0	1	0	0	2	3	1	3	1	2	3	3	1	2	6	5	rs552650320		TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr2:103067331G>A	ENST00000264260.2	+	11	1823	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V270I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	412	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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						TGATGCTTTCGTATCCTATGC	0.338																																					p.V412I													.	IL18RAP	102		0			c.G1234A												93	102	99					2																	103067331		2203	4300	6503	SO:0001583	missense	8807	exon11			GCTTTCGTATCCT	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.1234G>A	2.37:g.103067331G>A	ENSP00000264260:p.Val412Ile		69	0	0		72	0.04	3	NM_003853	4	0	0	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	9.096	1.002940	0.19121	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.01933	4.55;4.55	5.72	0.711	0.18162	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.704843	0.13115	N	0.412675	T	0.01976	0.0062	L	0.29908	0.895	0.31196	N	0.700381	P	0.38504	0.634	B	0.35312	0.2	T	0.45877	-0.9231	10	0.26408	T	0.33	.	9.9942	0.41889	0.3409:0.0:0.6591:0.0	.	412	O95256	I18RA_HUMAN	I	412;270	ENSP00000264260:V412I;ENSP00000387201:V270I	ENSP00000264260:V412I	V	+	1	0	IL18RAP	102433763	0.715000	0.27946	0.077000	0.20336	0.196000	0.23810	0.836000	0.27545	-0.156000	0.11079	-0.345000	0.07892	GTA			0.338	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253291.2		NM_003853		A	103067331	G	A	103067331	3	1	147	1	0	0	0	0	1	0	0	0	7663	1145	40	1	1268	1	IL18RAP	2	103067331	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	4256402	103067331	140132042	5	10756											
SPAG16	79582	mdanderson.org	37	chr2	214149325	214149325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggacgcggtggcggctgagGgcgcctactacctggaacgt	6	6	17	12	6	0	1	0	1	0	0	0	3	0	3	2	6	3	1	2	6	3	2			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr2:214149325G>A	ENST00000331683.5	+	1	213	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	SPAG16_ENST00000432529.2_Missense_Mutation_p.G40S|SPAG16_ENST00000413312.1_5'UTR|AC079610.2_ENST00000360083.3_lincRNA|SPAG16_ENST00000447990.1_Missense_Mutation_p.G40S|SPAG16_ENST00000272898.7_Missense_Mutation_p.G40S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	40					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGCGGCTGAGGGCGCCTACTA	0.711																																					p.G40S													.	.			0			c.G118A												16	18	17					2																	214149325		2198	4294	6492	SO:0001583	missense	79582	exon1			GCTGAGGGCGCCT	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.118G>A	2.37:g.214149325G>A	ENSP00000332592:p.Gly40Ser		42	0	0		41	0.07	3	NM_024532	1	0	0	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820908	0.71028	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000272898;ENST00000447990	T	0.60548	0.18	4.34	3.41	0.39046	.	0.320217	0.24623	N	0.036950	T	0.53610	0.1807	L	0.50333	1.59	0.80722	D	1	B;P;B	0.46142	0.192;0.873;0.291	B;P;B	0.47299	0.033;0.543;0.125	T	0.52230	-0.8603	10	0.46703	T	0.11	.	7.0547	0.25093	0.1347:0.0:0.8653:0.0	.	40;40;40	Q8N0X2;E7EWV3;Q8N0X2-4	SPG16_HUMAN;.;.	S	40	ENSP00000332592:G40S	ENSP00000272898:G40S	G	+	1	0	SPAG16	213857570	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	2.524000	0.45589	1.102000	0.41551	0.591000	0.81541	GGC			0.711	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256601.2		NM_024532		A	214149325	G	A	214149325	3	1	147	1	0	0	0	0	1	0	0	0	15001	1232	43	3	120	3	SPAG16	2	214149325	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	111081994	214149325	29050048	6	10757											
GPC1	2817	mdanderson.org	37	chr2	241404986	241404986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggacatgaccatccggcaGcagatcatgcagctgaagat	12	6	11	12	2	1	4	1	2	0	2	2	5	2	5	3	2	3	4	3	2	1	0			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr2:241404986G>T	ENST00000264039.2	+	8	1613	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	GPC1_ENST00000466624.1_3'UTR	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	455					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)		CCATCCGGCAGCAGATCATGC	0.637																																					p.Q455H													.	.			0			c.G1365T												97	82	87					2																	241404986		2201	4300	6501	SO:0001583	missense	2817	exon8			CCGGCAGCAGATC	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.1365G>T	2.37:g.241404986G>T	ENSP00000264039:p.Gln455His		81	0	0		73	0.05	4	NM_002081	41	0	0	B3KTD1|Q53QM4	Missense_Mutation	SNP	ENST00000264039.2	37	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.35|16.35	3.097247|3.097247	0.56075|0.56075	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138;ENST00000455111|ENST00000264039	.|T	.|0.56103	.|0.48	3.56|3.56	2.32|2.32	0.28847|0.28847	.|.	.|0.125321	.|0.53938	.|U	.|0.000043	T|T	0.70736|0.70736	0.3258|0.3258	M|M	0.88181|0.88181	2.935|2.935	0.50632|0.50632	D|D	0.999881|0.999881	.|D	.|0.76494	.|0.999	.|D	.|0.74674	.|0.984	T|T	0.73360|0.73360	-0.4007|-0.4007	5|10	.|0.87932	.|D	.|0	-31.1114|-31.1114	6.727|6.727	0.23363|0.23363	0.2068:0.0:0.7932:0.0|0.2068:0.0:0.7932:0.0	.|.	.|455	.|P35052	.|GPC1_HUMAN	S|H	495;207|455	.|ENSP00000264039:Q455H	.|ENSP00000264039:Q455H	A|Q	+|+	1|3	0|2	GPC1|GPC1	241053659|241053659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.619000|1.619000	0.36965|0.36965	1.704000|1.704000	0.51252|0.51252	0.551000|0.551000	0.68910|0.68910	GCA|CAG			0.637	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257179.3		NM_002081		T	241404986	G	T	241404986	3	4	147	1	0	0	0	0	1	0	0	0	6611	962	34	2	1395	2	GPC1	2	241404986	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	27255661	241404986	1794387	7	10758											
CLASP2	23122	mdanderson.org	37	chr3	33543150	33543150	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcactacttactttactGccagtaagttgactgagatg	11	12	9	9	0	0	2	0	2	0	1	0	3	0	2	1	0	5	4	1	0	4	6			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr3:33543150G>T	ENST00000468888.2	-	38	4498	c.4452C>A	c.(4450-4452)ggC>ggA	p.G1484G	CLASP2_ENST00000307312.7_Silent_p.G965G|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000399362.4_Silent_p.G1483G|CLASP2_ENST00000461133.3_Silent_p.G1243G|CLASP2_ENST00000480013.1_Silent_p.G1263G|CLASP2_ENST00000359576.5_Silent_p.G1475G			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1264					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTACTTTACTGCCAGTAAGTT	0.408																																					p.G1485G													.	.			0			c.C4455A												109	106	107					3																	33543150		1956	4155	6111	SO:0001819	synonymous_variant	23122	exon38			TTTACTGCCAGTA	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4452C>A	3.37:g.33543150G>T			57	0	0		35	0.09	3	NM_015097	16	0	0	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	G	9.553	1.116491	0.20795	.	.	ENSG00000163539	ENST00000487553	.	.	.	5.7	3.85	0.44370	.	.	.	.	.	T	0.60340	0.2261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57906	-0.7730	4	.	.	.	-15.6438	10.1851	0.42993	0.0841:0.1734:0.7425:0.0	.	.	.	.	K	190	.	.	Q	-	1	0	CLASP2	33518154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.435000	0.59941	1.381000	0.46364	0.655000	0.94253	CAG			0.408	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000344320.4		NM_001207044		T	33543150	G	T	33543150	2	4	147	1	0	0	0	0	0	0	0	1	3457	1306	46	2		2	CLASP2	3	33543150	Silent	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		33543150	164479280	8	10759											
USP19	10869	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	49146542	49146542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccacccagtcttggggcCcccagggacccaggggccca	6	3	14	18	0	1	0	0	0	1	0	1	1	1	1	6	6	0	0	6	6	0	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr3:49146542C>T	ENST00000398888.2	-	26	4124	c.3806G>A	c.(3805-3807)gGg>gAg	p.G1269E	USP19_ENST00000434032.2_Missense_Mutation_p.G1370E|USP19_ENST00000398896.1_Intron|USP19_ENST00000417901.1_Intron|USP19_ENST00000453664.1_Intron|USP19_ENST00000398892.3_Missense_Mutation_p.G1309E|USP19_ENST00000398898.2_Intron	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1269					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCTTGGGGCCCCCAGGGACC	0.677																																					p.G1370E													.	.			0			c.G4109A												13	17	15					3																	49146542		1956	4127	6083	SO:0001583	missense	10869	exon27			TGGGGCCCCCAGG	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3806G>A	3.37:g.49146542C>T	ENSP00000381863:p.Gly1269Glu		187	0	0		142	0.15	22	NM_001199160	4	0.75	3	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502027	0.64298	.	.	ENSG00000172046	ENST00000398892;ENST00000398888;ENST00000434032	T;T;T	0.19105	2.17;2.28;2.28	5.1	5.1	0.69264	.	4.112250	0.00508	N	0.000178	T	0.17577	0.0422	N	0.19112	0.55	0.36281	D	0.855781	P;P;B	0.45126	0.851;0.524;0.131	B;B;B	0.37550	0.253;0.095;0.026	T	0.20042	-1.0287	10	0.33141	T	0.24	-20.3339	12.0821	0.53677	0.0:0.922:0.0:0.078	.	1370;1269;1309	E9PEG8;O94966;B5MEG5	.;UBP19_HUMAN;.	E	1309;1269;1370	ENSP00000381867:G1309E;ENSP00000381863:G1269E;ENSP00000401197:G1370E	ENSP00000381863:G1269E	G	-	2	0	USP19	49121546	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.643000	0.61390	2.663000	0.90544	0.655000	0.94253	GGG			0.677	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000257721.1		NM_006677		T	49146542	C	T	49146542	3	4	147	1	0	0	0	0	1	0	0	0	17074	623	22	3	154	3	USP19	3	49146542	Missense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	15603392	49146542	148875888	9	10760											
ARHGEF3	50650	mdanderson.org	37	chr3	56789110	56789110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtttcgtgctcgagggggCggcatttctggaccagggtc	4	10	16	11	4	1	0	0	0	1	0	4	2	1	1	2	5	1	3	2	5	0	2			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr3:56789110C>T	ENST00000296315.3	-	3	442	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	ARHGEF3_ENST00000413728.2_Missense_Mutation_p.A98T|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.A124T|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.A98T|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.A63T|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.A92T	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	92					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|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)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTCGAGGGGGCGGCATTTCTG	0.542																																					p.A124T													ARHGEF3_ENST00000338458,colon,carcinoma,0,3	ARHGEF3_ENST00000338458	0	3	0			c.G370A												118	119	119					3																	56789110		2203	4300	6503	SO:0001583	missense	50650	exon6			AGGGGGCGGCATT	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.274G>A	3.37:g.56789110C>T	ENSP00000296315:p.Ala92Thr		35	0	0		34	0.12	4	NM_001128615	0		0	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	C	6.597	0.478463	0.12521	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T	0.24350	1.99;1.86;1.88;1.87;1.91;1.99	5.2	-3.41	0.04839	.	0.682036	0.14577	N	0.311119	T	0.11367	0.0277	L	0.28192	0.835	0.09310	N	0.999996	B;B;B;B;B;B	0.30584	0.219;0.065;0.006;0.286;0.001;0.005	B;B;B;B;B;B	0.28638	0.043;0.01;0.006;0.092;0.001;0.008	T	0.14980	-1.0453	10	0.45353	T	0.12	-6.7208	0.1356	0.00078	0.2553:0.2073:0.1962:0.3411	.	98;63;92;124;92;98	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	T	92;124;98;98;63;92;93;110	ENSP00000296315:A92T;ENSP00000341071:A124T;ENSP00000410922:A98T;ENSP00000420420:A98T;ENSP00000418826:A63T;ENSP00000417986:A92T	ENSP00000296315:A92T	A	-	1	0	ARHGEF3	56764150	0.000000	0.05858	0.118000	0.21660	0.992000	0.81027	-0.895000	0.04118	-1.012000	0.03387	0.563000	0.77884	GCC			0.542	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352431.2		NM_019555		T	56789110	C	T	56789110	3	4	147	1	0	0	0	0	1	0	0	0	904	768	27	1	1338	1	ARHGEF3	3	56789110	Missense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	7642568	56789110	141233320	10	10761											
FAM116A	201627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr3	57631406	57631406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggagcttgggtacgggtaGtatattctttgaattcacta	10	14	11	6	2	2	1	1	1	1	0	2	2	2	2	0	3	2	4	0	3	6	9			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr3:57631406G>C	ENST00000311128.5	-	11	1089	c.1019C>G	c.(1018-1020)aCt>aGt	p.T340S	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	340					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GGTACGGGTAGTATATTCTTT	0.328																																					p.T340S													.	.			0			c.C1019G												99	100	100					3																	57631406		2203	4299	6502	SO:0001583	missense	201627	exon11			CGGGTAGTATATT	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1019C>G	3.37:g.57631406G>C	ENSP00000311401:p.Thr340Ser		44	0	0		55	0.22	12	NM_152678	1	0	0	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.235469|4.235469	0.79800|0.79800	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000477344	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69851|.	0.3157|.	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72075|.	0.976|.	T|.	0.63646|.	-0.6590|.	9|.	0.32370|0.02654	T|T	0.25|1	-18.788|-18.788	20.2348|20.2348	0.98355|0.98355	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	340|.	Q8IWF6|.	F116A_HUMAN|.	S|X	340|108	.|.	ENSP00000311401:T340S|ENSP00000419334:Y108X	T|Y	-|-	2|3	0|2	FAM116A|FAM116A	57606446|57606446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.651000|8.651000	0.91078|0.91078	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	ACT|TAC			0.328	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351594.1		NM_152678		C	57631406	G	C	57631406	3	2	147	1	0	0	0	0	1	0	0	0	5417	1029	36	5	847	5	FAM116A	3	57631406	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	842296	57631406	140391024	11	10762											
GABRG2	2566	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr5	161528257	161528257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaggttgacaattgatgctGagtgccaattacaattgcac	12	13	9	7	0	0	3	0	3	0	0	0	3	0	3	1	1	4	3	1	1	5	5			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr5:161528257G>A	ENST00000361925.4	+	5	785	c.565G>A	c.(565-567)Gag>Aag	p.E189K	GABRG2_ENST00000356592.3_Missense_Mutation_p.E189K|GABRG2_ENST00000393933.4_Missense_Mutation_p.E94K|GABRG2_ENST00000414552.2_Missense_Mutation_p.E189K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	189					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|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)	AATTGATGCTGAGTGCCAATT	0.328																																					p.E189K													.	.			0			c.G565A												106	100	102					5																	161528257		2203	4300	6503	SO:0001583	missense	2566	exon5			GATGCTGAGTGCC		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.565G>A	5.37:g.161528257G>A	ENSP00000354651:p.Glu189Lys		74	0	0		52	0.15	8	NM_198904	0		0	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285198	0.95517	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.45	5.45	0.79879	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	M	0.62209	1.925	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.99	D;D;D	0.83275	0.996;0.98;0.947	D	0.87734	0.2581	10	0.72032	D	0.01	.	19.6409	0.95757	0.0:0.0:1.0:0.0	.	189;189;189	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	189;189;189;94;94	ENSP00000349000:E189K;ENSP00000410732:E189K;ENSP00000354651:E189K;ENSP00000377510:E94K;ENSP00000430182:E94K	ENSP00000349000:E189K	E	+	1	0	GABRG2	161460835	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.695000	0.98691	2.711000	0.92665	0.655000	0.94253	GAG			0.328	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252706.1				A	161528257	G	A	161528257	3	1	147	1	0	0	0	0	1	0	0	0	6185	1291	45	3	583	3	GABRG2	5	161528257	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		161528257	19387003	12	10763											
FAM83B	222584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	54806767	54806767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacaagtttcgaggatttAtgcaaaagtttggaaacttt	15	13	9	4	1	0	1	0	0	0	1	1	4	0	3	0	2	3	3	0	2	6	5			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr6:54806767A>G	ENST00000306858.7	+	5	3114	c.2998A>G	c.(2998-3000)Atg>Gtg	p.M1000V	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1000										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)					TCGAGGATTTATGCAAAAGTT	0.343																																					p.M1000V													.	.			0			c.A2998G												43	43	43					6																	54806767		2203	4300	6503	SO:0001583	missense	222584	exon5			GGATTTATGCAAA	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.2998A>G	6.37:g.54806767A>G	ENSP00000304078:p.Met1000Val		127	0	0		137	0.15	21	NM_001010872	0		0	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469284	0.43839	.	.	ENSG00000168143	ENST00000306858	T	0.32272	1.46	5.76	4.51	0.55191	.	0.059554	0.64402	N	0.000002	T	0.18257	0.0438	M	0.69823	2.125	0.45852	D	0.998711	B	0.12630	0.006	B	0.06405	0.002	T	0.06041	-1.0849	10	0.72032	D	0.01	-11.8386	9.8753	0.41200	0.9021:0.0:0.0979:0.0	.	1000	Q5T0W9	FA83B_HUMAN	V	1000	ENSP00000304078:M1000V	ENSP00000304078:M1000V	M	+	1	0	FAM83B	54914726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.231000	0.51294	0.881000	0.35993	0.533000	0.62120	ATG			0.343	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040994.1		XM_294139		G	54806767	A	G	54806767	3	3	147	1	0	0	0	0	1	0	0	0	5647	449	16	4	3012	4	FAM83B	6	54806767	Missense_Mutation	SNP	A	TCGA-ZM-AA0N-01A-21D-A435-10		54806767	116308300	13	10764											
BEND3	57673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr6	107389963	107389963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcattttttcctgttggggCggcggcacctctcatcgatg	4	13	12	12	4	1	0	1	0	1	0	4	1	2	0	2	4	0	3	2	4	0	4			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr6:107389963C>T	ENST00000369042.1	-	4	2622	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	BEND3_ENST00000429433.2_Missense_Mutation_p.R811H			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	811	BEN 4. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CCTGTTGGGGCGGCGGCACCT	0.577																																					p.R811H													.	.			0			c.G2432A												62	64	64					6																	107389963		2202	4300	6502	SO:0001583	missense	57673	exon5			TTGGGGCGGCGGC	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2432G>A	6.37:g.107389963C>T	ENSP00000358038:p.Arg811His		69	0	0		73	0.18	13	NM_001080450	74	0.28	21	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009369	0.75046	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.49720	0.77;0.77	5.02	5.02	0.67125	BEN domain (2);	0.132654	0.47455	D	0.000239	T	0.60444	0.2269	L	0.56769	1.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.64689	-0.6348	10	0.72032	D	0.01	-9.3388	18.3222	0.90242	0.0:1.0:0.0:0.0	.	811	Q5T5X7	BEND3_HUMAN	H	811	ENSP00000358038:R811H;ENSP00000411268:R811H	ENSP00000358038:R811H	R	-	2	0	BEND3	107496656	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.440000	0.80464	2.334000	0.79466	0.455000	0.32223	CGC			0.577	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041686.1		NM_020913		T	107389963	C	T	107389963	3	4	147	1	0	0	0	0	1	0	0	0	1399	768	27	1	58	1	BEND3	6	107389963	Missense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	52583196	107389963	63725104	14	10765											
IQCE	23288	bcgsc.ca	37	chr7	2627479	2627479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggagtggagcaagcccCggctgctgaggcgcattgtg	7	8	17	9	2	0	1	0	1	0	0	0	3	0	3	2	4	3	4	2	4	1	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr7:2627479C>T	ENST00000402050.2	+	13	1196	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	IQCE_ENST00000438376.2_Missense_Mutation_p.R322W|IQCE_ENST00000325979.7_Missense_Mutation_p.R273W|IQCE_ENST00000404984.1_Missense_Mutation_p.R287W	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	338						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)		GAGCAAGCCCCGGCTGCTGAG	0.622																																					p.R338W													.	IQCE	66		0			c.C1012T												102	116	111					7																	2627479		2126	4237	6363	SO:0001583	missense	23288	exon13			AAGCCCCGGCTGC	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.1012C>T	7.37:g.2627479C>T	ENSP00000385597:p.Arg338Trp		54	0	0		72	0.06	4	NM_152558	3	0	0	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429500	0.62844	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000427817	T;T;T;T	0.18502	2.24;2.24;2.24;2.21	4.72	1.35	0.21983	.	0.063502	0.64402	D	0.000011	T	0.38348	0.1037	M	0.71581	2.175	0.38710	D	0.953194	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	0.998;0.998;0.998;0.999;0.998;0.999	T	0.32481	-0.9905	10	0.87932	D	0	-35.4961	12.8932	0.58084	0.3029:0.6971:0.0:0.0	.	273;322;273;338;338;322	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	W	338;287;322;273;145	ENSP00000385597:R338W;ENSP00000385945:R287W;ENSP00000396178:R322W;ENSP00000313772:R273W	ENSP00000313772:R273W	R	+	1	2	IQCE	2594005	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	1.564000	0.36375	0.046000	0.15833	-0.457000	0.05445	CGG			0.622	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325063.2		NM_152558		T	2627479	C	T	2627479	3	4	147	1	0	0	0	0	1	0	0	0	7821	643	23	1	1062	1	IQCE	7	2627479	Missense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10		2627479	156511184	15	10766											
ADAM22	53616	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr7	87780609	87780609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgcaaaaccagagataGacaatgcaaatacatttggg	19	7	9	6	0	0	3	0	0	0	3	0	4	0	3	1	1	4	2	1	1	7	3			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr7:87780609G>C	ENST00000265727.7	+	20	1734	c.1655G>C	c.(1654-1656)aGa>aCa	p.R552T	ADAM22_ENST00000315984.7_Missense_Mutation_p.R552T|ADAM22_ENST00000398209.3_Missense_Mutation_p.R552T|ADAM22_ENST00000398204.4_Missense_Mutation_p.R552T|ADAM22_ENST00000398201.4_Missense_Mutation_p.R552T			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	552	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACCAGAGATAGACAATGCAAA	0.403																																					p.R552T													.	.			0			c.G1655C												127	120	122					7																	87780609		1895	4104	5999	SO:0001583	missense	53616	exon20			GAGATAGACAATG	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1655G>C	7.37:g.87780609G>C	ENSP00000265727:p.Arg552Thr		110	0	0		110	0.06	7	NM_021722	0		0	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496354	0.85069	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	5.07	5.07	0.68467	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.41632	1.29	0.80722	D	1	D;D;D;D	0.89917	0.972;0.965;0.972;1.0	P;P;P;D	0.91635	0.768;0.584;0.708;0.999	T	0.10520	-1.0626	10	0.52906	T	0.07	.	17.5559	0.87889	0.0:0.0:1.0:0.0	.	604;552;552;552	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	T	552;552;552;552;552;519	ENSP00000381262:R552T;ENSP00000381260:R552T;ENSP00000265727:R552T;ENSP00000315900:R552T;ENSP00000381267:R552T;ENSP00000381261:R519T	ENSP00000265727:R552T	R	+	2	0	ADAM22	87618545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.882000	0.75589	2.491000	0.84063	0.591000	0.81541	AGA			0.403	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268370.2		NM_021723		C	87780609	G	C	87780609	3	2	147	1	0	0	0	0	1	0	0	0	244	942	33	5	1733	5	ADAM22	7	87780609	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	85153130	87780609	71358054	16	10767											
SLC18A1	6570	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr8	20005148	20005148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcaaaaagccacatcagcGatggcgtagacactcccata	15	6	8	12	2	1	1	1	0	0	1	2	2	2	1	2	1	3	2	2	1	4	2			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr8:20005148G>A	ENST00000276373.5	-	14	1562	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	SLC18A1_ENST00000519026.1_Silent_p.I400I|SLC18A1_ENST00000381608.4_Silent_p.I432I|SLC18A1_ENST00000440926.1_Silent_p.I432I|SLC18A1_ENST00000437980.1_Silent_p.I432I|SLC18A1_ENST00000265808.7_Silent_p.I400I	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	432					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CCACATCAGCGATGGCGTAGA	0.547																																					p.I432I													.	.			0			c.C1296T												118	105	110					8																	20005148		2203	4300	6503	SO:0001819	synonymous_variant	6570	exon14			ATCAGCGATGGCG		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1296C>T	8.37:g.20005148G>A			133	0	0		172	0.07	12	NM_003053	0		0	E9PDJ5|Q9BRE4	Silent	SNP	ENST00000276373.5	37	CCDS6013.1																																																																																					0.547	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214106.1				A	20005148	G	A	20005148	2	1	147	1	0	0	0	0	0	0	0	1	14448	1048	37	1		1	SLC18A1	8	20005148	Silent	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		20005148	126358874	17	10768											
GDAP1	54332	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr8	75272458	75272458	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgcttgactccttgccaAtggatgcctatacacatggc	9	11	9	12	0	0	1	0	1	0	0	1	2	1	2	3	2	5	2	3	2	3	4	rs368695731		TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr8:75272458A>T	ENST00000220822.7	+	3	477	c.397A>T	c.(397-399)Atg>Ttg	p.M133L	GDAP1_ENST00000434412.2_Missense_Mutation_p.M65L|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	133				M -> I (in Ref. 3; BAF85261). {ECO:0000305}.	cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CTCCTTGCCAATGGATGCCTA	0.423																																					p.M133L													.	.			0			c.A397T												168	143	151					8																	75272458		2203	4300	6503	SO:0001583	missense	54332	exon3			TTGCCAATGGATG		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"Charcot-Marie-Tooth neuropathy 4A"	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.397A>T	8.37:g.75272458A>T	ENSP00000220822:p.Met133Leu		86	0	0		79	0.1	8	NM_018972	0		0	A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274786	0.80580	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.99070	-5.39;-5.37	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97439	0.9162	L	0.54323	1.7	0.54753	D	0.999981	P	0.34462	0.454	B	0.34590	0.186	D	0.99094	1.0841	10	0.13470	T	0.59	-8.2554	15.8453	0.78883	1.0:0.0:0.0:0.0	.	133	Q8TB36	GDAP1_HUMAN	L	133;65	ENSP00000220822:M133L;ENSP00000417006:M65L	ENSP00000220822:M133L	M	+	1	0	GDAP1	75435013	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	8.710000	0.91388	2.330000	0.79161	0.528000	0.53228	ATG			0.423	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379061.1		NM_018972		T	75272458	A	T	75272458	3	4	147	1	0	0	0	0	1	0	0	0	6321	101	4	5	407	5	GDAP1	8	75272458	Missense_Mutation	SNP	A	TCGA-ZM-AA0N-01A-21D-A435-10	55267310	75272458	71091564	18	10769											
ANXA11	311	mdanderson.org	37	chr10	81921708	81921708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctaccaggtgggccCggctccgggagcacagaacc	8	5	13	15	2	0	1	0	0	0	1	1	2	1	2	5	4	5	3	5	4	3	2	rs372196644		TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr10:81921708C>T	ENST00000438331.1	-	13	1645	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	ANXA11_ENST00000535999.1_Missense_Mutation_p.R388Q|ANXA11_ENST00000360615.4_Missense_Mutation_p.R388Q|ANXA11_ENST00000265447.4_Missense_Mutation_p.R388Q|ANXA11_ENST00000372231.3_Missense_Mutation_p.R388Q|ANXA11_ENST00000422982.3_Missense_Mutation_p.R388Q|ANXA11_ENST00000537102.1_Missense_Mutation_p.R355Q	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	388					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CAGGTGGGCCCGGCTCCGGGA	0.597											OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1	0.000199681	0	0	5008	,	,		16362	0		0	False		,,,				2504	0.001				p.R388Q													.	.			0			c.G1163A							C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	53	55	54		1163,1163,1163	4.2	1	10		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ANXA11	NM_001157.2,NM_145868.1,NM_145869.1	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	388/506,388/506,388/506	81921708	1,13005	2203	4300	6503	SO:0001583	missense	311	exon12			TGGGCCCGGCTCC	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1163G>A	10.37:g.81921708C>T	ENSP00000398610:p.Arg388Gln		27	0	0	1210	23	0.13	3	NM_145868	37	0.03	1	B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.53|15.53	2.860141|2.860141	0.51482|0.51482	0.0|0.0	1.16E-4|1.16E-4	ENSG00000122359|ENSG00000122359	ENST00000447489|ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219	.|T;T;T;T;T;T;T	.|0.03242	.|4.0;4.0;4.0;4.0;4.0;4.0;4.0	5.07|5.07	4.17|4.17	0.49024|0.49024	.|Annexin repeat, conserved site (1);	.|0.053759	.|0.64402	.|D	.|0.000001	T|T	0.04543|0.04543	0.0124|0.0124	N|N	0.21508|0.21508	0.67|0.67	0.39234|0.39234	D|D	0.963723|0.963723	.|D;P;P	.|0.61697	.|0.99;0.681;0.681	.|P;B;B	.|0.48334	.|0.574;0.135;0.135	T|T	0.54629|0.54629	-0.8265|-0.8265	5|10	.|0.42905	.|T	.|0.14	.|.	11.7065|11.7065	0.51599|0.51599	0.0:0.9128:0.0:0.0872|0.0:0.9128:0.0:0.0872	.|.	.|488;388;388	.|B7Z6L0;Q5T0G8;P50995	.|.;.;ANX11_HUMAN	R|Q	21|388;388;388;388;388;388;388;295;355;35	.|ENSP00000361305:R388Q;ENSP00000404412:R388Q;ENSP00000398610:R388Q;ENSP00000353827:R388Q;ENSP00000265447:R388Q;ENSP00000441748:R388Q;ENSP00000441400:R355Q	.|ENSP00000265447:R388Q	G|R	-|-	1|2	0|0	ANXA11|ANXA11	81911688|81911688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.809000|3.809000	0.55606|0.55606	1.302000|1.302000	0.44855|0.44855	0.558000|0.558000	0.71614|0.71614	GGG|CGG			0.597	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049044.1		NM_145869		T	81921708	C	T	81921708	3	4	147	1	0	0	0	0	1	0	0	0	716	652	23	1	374	1	ANXA11	10	81921708	Missense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10		81921708	53613039	19	10770											
MAT1A	4143	mdanderson.org	37	chr10	82036264	82036264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatctcctccagcgtgatGtcttcgttgtgctgcacaga	6	12	10	13	3	2	2	0	1	2	1	5	2	3	2	2	0	3	4	2	0	0	2			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr10:82036264G>T	ENST00000372213.3	-	6	896	c.636C>A	c.(634-636)gaC>gaA	p.D212E	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	212					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)	CCAGCGTGATGTCTTCGTTGT	0.582																																					p.D212E													MAT1A,NS,carcinoma,0,1	MAT1A	0	1	0			c.C636A												183	148	159					10																	82036264		2203	4300	6503	SO:0001583	missense	4143	exon6			CGTGATGTCTTCG		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.636C>A	10.37:g.82036264G>T	ENSP00000361287:p.Asp212Glu		50	0	0		40	0.08	3	NM_000429	0		0	D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	7.402	0.632903	0.14322	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.82526	-1.62	4.84	2.97	0.34412	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.439740	0.26407	N	0.024541	T	0.63355	0.2504	N	0.15975	0.35	0.34276	D	0.681606	B	0.02656	0.0	B	0.01281	0.0	T	0.58109	-0.7694	10	0.02654	T	1	-40.9148	9.6309	0.39778	0.173:0.0:0.827:0.0	.	212	Q00266	METK1_HUMAN	E	212	ENSP00000361287:D212E	ENSP00000361280:D212E	D	-	3	2	MAT1A	82026244	0.000000	0.05858	0.347000	0.25668	0.974000	0.67602	0.081000	0.14823	0.746000	0.32786	0.655000	0.94253	GAC			0.582	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049070.1		NM_000429		T	82036264	G	T	82036264	3	4	147	1	0	0	0	0	1	0	0	0	9345	1368	48	3	567	3	MAT1A	10	82036264	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	114556	82036264	53498483	20	10771											
KNDC1	85442	mdanderson.org	37	chr10	135012548	135012548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccgggccaggagccagagGgccccggggccacccctgcc	5	1	16	19	2	0	1	0	0	0	1	0	2	0	2	9	5	2	0	9	5	0	0			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr10:135012548G>T	ENST00000304613.3	+	14	2557	c.2536G>T	c.(2536-2538)Ggc>Tgc	p.G846C	KNDC1_ENST00000368571.2_Missense_Mutation_p.G781C|KNDC1_ENST00000368572.2_Missense_Mutation_p.G846C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	846	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGAGCCAGAGGGCCCCGGGGC	0.756																																					p.G846C													.	.			0			c.G2536T												5	7	6					10																	135012548		1995	4003	5998	SO:0001583	missense	85442	exon14			CCAGAGGGCCCCG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2536G>T	10.37:g.135012548G>T	ENSP00000304437:p.Gly846Cys		20	0	0		33	0.09	3	NM_152643	0		0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.471939	0.43942	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.23348	2.4;2.4;1.91	3.01	0.783	0.18572	.	0.905027	0.08582	U	0.924408	T	0.33760	0.0874	L	0.36672	1.1	0.09310	N	1	D;B;B	0.67145	0.996;0.206;0.131	D;B;B	0.69654	0.965;0.058;0.016	T	0.19614	-1.0300	10	0.39692	T	0.17	.	4.5104	0.11908	0.4556:0.0:0.5444:0.0	.	846;781;846	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	C	846;846;781	ENSP00000304437:G846C;ENSP00000357561:G846C;ENSP00000357560:G781C	ENSP00000304437:G846C	G	+	1	0	KNDC1	134862538	0.083000	0.21467	0.001000	0.08648	0.071000	0.16799	1.292000	0.33342	0.031000	0.15407	0.306000	0.20318	GGC			0.756	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000277044.3		NM_152643		T	135012548	G	T	135012548	3	4	147	1	0	0	0	0	1	0	0	0	8441	1232	43	3	2590	3	KNDC1	10	135012548	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	52976284	135012548	522199	21	10772											
NRXN2	9379	mdanderson.org	37	chr11	64374979	64374979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgtggggttggctgtggGcagatgggggaagccggggg	4	7	23	7	1	0	1	0	0	0	1	0	2	0	2	2	8	1	3	2	8	1	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr11:64374979G>A	ENST00000377551.1	-	22	5039	c.4828C>T	c.(4828-4830)Ccc>Tcc	p.P1610S	NRXN2_ENST00000377559.3_Missense_Mutation_p.P1540S|NRXN2_ENST00000409571.1_Missense_Mutation_p.P1603S|NRXN2_ENST00000301894.2_Missense_Mutation_p.P564S|NRXN2_ENST00000265459.6_Missense_Mutation_p.P1610S			Q9P2S2	NRX2A_HUMAN	neurexin 2	1610					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						TTGGCTGTGGGCAGATGGGGG	0.751																																					p.P1610S													.	.			0			c.C4828T												7	8	8					11																	64374979		2140	4179	6319	SO:0001583	missense	9379	exon23			CTGTGGGCAGATG		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.4828C>T	11.37:g.64374979G>A	ENSP00000366774:p.Pro1610Ser		22	0	0		16	0.19	3	NM_015080	23	0	0	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915677	0.73098	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.65732	0.4;-0.17;-0.16;-0.17;-0.07	3.78	3.78	0.43462	.	0.000000	0.43110	U	0.000620	T	0.75953	0.3920	M	0.69823	2.125	0.80722	D	1	P;B;D;D	0.89917	0.592;0.059;0.995;1.0	B;B;D;D	0.91635	0.191;0.029;0.957;0.999	T	0.77054	-0.2730	10	0.45353	T	0.12	.	13.1391	0.59424	0.0:0.0:1.0:0.0	.	1540;1610;1356;564	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	S	564;1610;1540;1610;1540;1603	ENSP00000301894:P564S;ENSP00000366774:P1610S;ENSP00000366782:P1540S;ENSP00000265459:P1610S;ENSP00000386416:P1603S	ENSP00000265459:P1610S	P	-	1	0	NRXN2	64131555	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.885000	0.92439	1.954000	0.56735	0.313000	0.20887	CCC			0.751	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104967.3		NM_015080		A	64374979	G	A	64374979	3	1	147	1	0	0	0	0	1	0	0	0	10683	1203	42	2	314	2	NRXN2	11	64374979	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		64374979	70631537	22	10773											
ARL2	402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	64786160	64786160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcgcagaccgccagcgCatgcaggactgccagcggga	10	2	15	14	4	0	1	0	0	0	1	0	4	0	3	3	2	5	3	3	2	0	0			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr11:64786160C>T	ENST00000246747.4	+	3	389	c.294C>T	c.(292-294)cgC>cgT	p.R98R	ARL2_ENST00000529384.1_Silent_p.R98R|ARL2_ENST00000533729.1_Silent_p.R98R|RP11-399J13.3_ENST00000301886.3_Silent_p.R98R	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	98					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						ACCGCCAGCGCATGCAGGACT	0.622																																					p.R98R													ARL2,NS,carcinoma,+1,1	ARL2	1	1	0			c.C294T												51	52	52					11																	64786160		2200	4297	6497	SO:0001819	synonymous_variant	402	exon3			CCAGCGCATGCAG	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.294C>T	11.37:g.64786160C>T			53	0	0		43	0.16	7	NM_001667	89	0.43	38	G3V184|Q9BUK8	Silent	SNP	ENST00000246747.4	37	CCDS8088.1																																																																																					0.622	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385963.1		NM_001667		T	64786160	C	T	64786160	2	4	147	1	0	0	0	0	0	0	0	1	933	697	25	2		2	ARL2	11	64786160	Silent	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	411181	64786160	70220356	23	10774											
CHRDL2	25884	ucsc.edu	37	chr11	74424504	74424504	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggcggacagtggaggcgGtaacaactcacatgggcgcc	11	4	15	11	3	1	0	1	0	0	0	1	2	1	2	1	6	2	1	1	6	2	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr11:74424504G>T	ENST00000376332.3	-	3	712	c.216C>A	c.(214-216)taC>taA	p.Y72*	CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.Y72*|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	72	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AGTGGAGGCGGTAACAACTCA	0.587																																					p.Y72X													.	CHRDL2	47		0			c.C216A												100	89	92					11																	74424504		2200	4293	6493	SO:0001587	stop_gained	25884	exon3			GAGGCGGTAACAA	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.216C>A	11.37:g.74424504G>T	ENSP00000365510:p.Tyr72*		61	0	0		38	0.11	4	NM_015424	0		0	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Nonsense_Mutation	SNP	ENST00000376332.3	37		.	.	.	.	.	.	.	.	.	.	G	38	7.016659	0.98006	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000528789	.	.	.	5.12	3.21	0.36854	.	0.277119	0.34025	N	0.004337	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.8395	10.3498	0.43927	0.174:0.0:0.826:0.0	.	.	.	.	X	72	.	ENSP00000263671:Y72X	Y	-	3	2	CHRDL2	74102152	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.603000	0.54074	1.298000	0.44778	0.563000	0.77884	TAC			0.587	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000385391.1				T	74424504	G	T	74424504	4	4	147	1	0	0	0	0	0	1	0	0	3376	1256	44	3	1179	3	CHRDL2	11	74424504	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	9638344	74424504	60582012	24	10775											
ACER3	55331	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	76726118	76726118	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtatatttttattgggaTttttattttggaatatagat	10	22	9	0	0	0	1	0	0	0	1	0	3	0	3	0	3	0	1	0	3	7	13			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr11:76726118T>C	ENST00000532485.1	+	8	660	c.556T>C	c.(556-558)Ttt>Ctt	p.F186L	ACER3_ENST00000544113.1_Missense_Mutation_p.F53L|ACER3_ENST00000526597.1_Missense_Mutation_p.F91L|ACER3_ENST00000533873.1_Missense_Mutation_p.F149L|ACER3_ENST00000538157.1_Missense_Mutation_p.F144L	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	186					ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TTTATTGGGATTTTTATTTTG	0.308																																					p.F186L													.	.			0			c.T556C												74	78	77					11																	76726118		2200	4292	6492	SO:0001583	missense	55331	exon8			TTGGGATTTTTAT	AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"Alkaline ceramidase"	16066	protein-coding gene	gene with protein product	"alkaline phytoceramidase"		"phytoceramidase, alkaline"	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.556T>C	11.37:g.76726118T>C	ENSP00000434480:p.Phe186Leu		51	0	0		38	0.18	7	NM_018367	1	0	0	B2RC99	Missense_Mutation	SNP	ENST00000532485.1	37	CCDS8247.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332734	0.81801	.	.	ENSG00000078124	ENST00000534206;ENST00000532485;ENST00000526597;ENST00000533873;ENST00000538157;ENST00000530243;ENST00000544113	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.47	4.31	0.51392	.	0.054018	0.64402	D	0.000001	T	0.63896	0.2550	M	0.82323	2.585	0.44677	D	0.997668	D;D	0.89917	0.957;1.0	P;D	0.72982	0.752;0.979	T	0.66428	-0.5926	10	0.72032	D	0.01	-15.4842	9.8357	0.40968	0.1537:0.0:0.0:0.8463	.	149;186	B7Z2Q2;Q9NUN7	.;ACER3_HUMAN	L	144;186;91;149;144;144;53	ENSP00000435733:F144L;ENSP00000434480:F186L;ENSP00000431149:F91L;ENSP00000436252:F149L;ENSP00000440916:F144L;ENSP00000440663:F53L	ENSP00000431149:F91L	F	+	1	0	ACER3	76403766	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.327000	0.72910	0.867000	0.35654	0.402000	0.26972	TTT			0.308	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382770.2		NM_018367		C	76726118	T	C	76726118	3	2	147	1	0	0	0	0	1	0	0	0	140	1493	52	4	586	4	ACER3	11	76726118	Missense_Mutation	SNP	T	TCGA-ZM-AA0N-01A-21D-A435-10	2301614	76726118	58280398	25	10776											
GRM5	2915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr11	88338026	88338026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcctgcatagcctgggcaGagggacatctgcatgttgtg	8	10	14	9	0	1	1	0	0	1	1	2	2	2	2	2	2	3	4	2	2	1	2			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr11:88338026G>A	ENST00000305447.4	-	4	1403	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	GRM5_ENST00000393297.1_Silent_p.L418L|GRM5_ENST00000455756.2_Silent_p.L418L|GRM5_ENST00000418177.2_Silent_p.L418L|GRM5_ENST00000305432.5_Silent_p.L418L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	418					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGCCTGGGCAGAGGGACATCT	0.468																																					p.L418L													.	.			0			c.C1254T												93	81	85					11																	88338026		2201	4299	6500	SO:0001819	synonymous_variant	2915	exon5			TGGGCAGAGGGAC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1254C>T	11.37:g.88338026G>A			110	0	0		110	0.16	18	NM_000842	0		0	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																					0.468	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000259226.1		NM_000842		A	88338026	G	A	88338026	2	1	147	1	0	0	0	0	0	0	0	1	6815	929	33	3		3	GRM5	11	88338026	Silent	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	11611908	88338026	46668490	26	10777											
MAML2	84441	broad.mit.edu;mdanderson.org	37	chr11	95825263	95825263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgttgttgCtgctgctgctgctgttgggc	0	16	15	10	0	0	0	0	0	0	0	0	0	0	0	0	1	9	12	0	1	0	3	rs537179849	byFrequency	TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr11:95825263C>T	ENST00000524717.1	-	2	3216	c.1932G>A	c.(1930-1932)caG>caA	p.Q644Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	644					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgttgttgctgctgctgct	0.522			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																p.Q644Q				Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	.	MAML2	94		0			c.G1932A												41	45	43					11																	95825263		2087	4093	6180	SO:0001819	synonymous_variant	84441	exon2			TTGTTGCTGCTGC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1932G>A	11.37:g.95825263C>T			55	0.0181818182	1		47	0.06	3	NM_032427	1	0	0	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																					0.522	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395540.1				T	95825263	C	T	95825263	2	4	147	1	0	0	0	0	0	0	0	1	9222	796	28	2		2	MAML2	11	95825263	Silent	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	7487237	95825263	39181253	27	10778											
PLXNC1	10154	bcgsc.ca;mdanderson.org	37	chr12	94637739	94637739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcaaaatataaccatgatgGgcagaaattttgatgtaatt	16	13	8	4	0	1	3	1	2	0	1	1	3	1	3	1	1	1	2	1	1	6	6			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr12:94637739G>T	ENST00000258526.4	+	12	2575	c.2326G>T	c.(2326-2328)Ggc>Tgc	p.G776C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	776					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						AACCATGATGGGCAGAAATTT	0.323																																					p.G776C													.	PLXNC1	135		0			c.G2326T												141	132	135					12																	94637739		2202	4299	6501	SO:0001583	missense	10154	exon12			ATGATGGGCAGAA	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.2326G>T	12.37:g.94637739G>T	ENSP00000258526:p.Gly776Cys		72	0	0		98	0.05	5	NM_005761	0		0	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037140	0.75617	.	.	ENSG00000136040	ENST00000258526	D	0.98164	-4.76	5.56	5.56	0.83823	Cell surface receptor IPT/TIG (2);Immunoglobulin-like fold (1);	0.106858	0.64402	D	0.000006	D	0.98207	0.9407	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99727	1.1011	10	0.87932	D	0	.	17.6616	0.88193	0.0:0.0:1.0:0.0	.	776	O60486	PLXC1_HUMAN	C	776	ENSP00000258526:G776C	ENSP00000258526:G776C	G	+	1	0	PLXNC1	93161870	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.526000	0.67116	2.777000	0.95525	0.591000	0.81541	GGC			0.323	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408126.2				T	94637739	G	T	94637739	3	4	147	1	0	0	0	0	1	0	0	0	12143	1232	43	3	2372	3	PLXNC1	12	94637739	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		94637739	39214156	28	10779											
OXA1L	5018	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr14	23239418	23239418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagattacaaggcttcctcGgagatggcactttaccagaa	13	9	9	10	1	0	3	0	0	0	3	2	4	1	3	2	3	2	2	2	3	4	4			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr14:23239418G>A	ENST00000604262.1	+	5	623	c.600G>A	c.(598-600)tcG>tcA	p.S200S	OXA1L_ENST00000285848.5_Silent_p.S260S|OXA1L_ENST00000358043.5_Silent_p.S184S|OXA1L_ENST00000412791.1_Silent_p.S200S			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	200					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGGCTTCCTCGGAGATGGCAC	0.418																																					p.S260S													.	.			0			c.G780A												90	86	87					14																	23239418		2203	4300	6503	SO:0001819	synonymous_variant	5018	exon5			TTCCTCGGAGATG		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.600G>A	14.37:g.23239418G>A			98	0	0		117	0.08	9	NM_005015	41	0.15	6	B4DPA2	Silent	SNP	ENST00000604262.1	37																																																																																						0.418	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000468876.1		NM_005015		A	23239418	G	A	23239418	2	1	147	1	0	0	0	0	0	0	0	1	11345	1103	39	1		1	OXA1L	14	23239418	Silent	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		23239418	84110122	29	10780											
TRMT61A	115708	broad.mit.edu	37	chr14	104001019	104001019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaacgtgcgcactgtcaGcctgccaccgcccgacctgg	7	6	10	18	4	1	0	1	0	0	0	1	1	1	0	5	1	5	1	5	1	2	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr14:104001019G>T	ENST00000389749.4	+	4	838	c.731G>T	c.(730-732)aGc>aTc	p.S244I		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	244						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						CGCACTGTCAGCCTGCCACCG	0.697																																					p.S244I													.	TRMT61A	15		0			c.G731T												15	22	20					14																	104001019		2135	4223	6358	SO:0001583	missense	115708	exon4			CTGTCAGCCTGCC	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.731G>T	14.37:g.104001019G>T	ENSP00000374399:p.Ser244Ile		40	0.025	1		47	0.13	6	NM_152307	24	0	0	A6NN78|Q8N7Q9	Missense_Mutation	SNP	ENST00000389749.4	37	CCDS41994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.740375|1.740375	0.30865|0.30865	.|.	.|.	ENSG00000166166|ENSG00000166166	ENST00000299202|ENST00000389749;ENST00000299201	.|T	.|0.45668	.|0.89	4.67|4.67	3.63|3.63	0.41609|0.41609	.|.	.|0.658034	.|0.15514	.|N	.|0.258391	T|T	0.26774|0.26774	0.0655|0.0655	N|N	0.20483|0.20483	0.58|0.58	0.41995|0.41995	D|D	0.990869|0.990869	.|B	.|0.24132	.|0.098	.|B	.|0.23716	.|0.048	T|T	0.11179|0.11179	-1.0598|-1.0598	5|10	.|0.42905	.|T	.|0.14	-4.0183|-4.0183	8.2926|8.2926	0.31967|0.31967	0.2251:0.0:0.7749:0.0|0.2251:0.0:0.7749:0.0	.|.	.|244	.|Q96FX7	.|TRM61_HUMAN	S|I	146|244	.|ENSP00000374399:S244I	.|ENSP00000299201:S244I	A|S	+|+	1|2	0|0	TRMT61A|TRMT61A	103070772|103070772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	2.535000|2.535000	0.45685|0.45685	2.140000|2.140000	0.66376|0.66376	0.313000|0.313000	0.20887|0.20887	GCC|AGC			0.697	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414988.1		NM_152307		T	104001019	G	T	104001019	3	4	147	1	0	0	0	0	1	0	0	0	16593	971	34	2	741	2	TRMT61A	14	104001019	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	80761601	104001019	3348521	30	10781											
FBN1	2200	broad.mit.edu	37	chr15	48703418	48703418	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcatttccagattcGatcaagtatctgttgtgatt	9	17	6	9	1	4	2	2	1	2	1	6	3	5	2	2	0	0	2	2	0	2	6	rs397515862|rs138574576	byFrequency	TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr15:48703418G>T	ENST00000316623.5	-	66	8840	c.8385C>A	c.(8383-8385)atC>atA	p.I2795I	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2795					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)		TTCCAGATTCGATCAAGTATC	0.418																																					p.I2795I													.	FBN1	310		0			c.C8385A												151	145	147					15																	48703418		2198	4297	6495	SO:0001819	synonymous_variant	2200	exon66			AGATTCGATCAAG	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.8385C>A	15.37:g.48703418G>T			111	0	0		124	0.04	5	NM_000138	2	0	0	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																					0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417355.1				T	48703418	G	T	48703418	2	4	147	1	0	0	0	0	0	0	0	1	5715	1048	37	1		1	FBN1	15	48703418	Silent	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		48703418	53827974	31	10782											
WDR90	197335	mdanderson.org	37	chr16	717551	717551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctcttcacggccgccCgcaacgagatccttgtgtgg	5	9	13	14	4	2	1	1	0	1	1	3	2	3	1	3	3	2	3	3	3	1	2	rs370037118		TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr16:717551C>T	ENST00000293879.4	+	41	5209	c.5209C>T	c.(5209-5211)Cgc>Tgc	p.R1737C	RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000549091.1_Missense_Mutation_p.R1739C|WDR90_ENST00000547944.1_Missense_Mutation_p.R336C|WDR90_ENST00000315764.4_Missense_Mutation_p.R288C			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1737										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CACGGCCGCCCGCAACGAGAT	0.642																																					p.R1737C													WDR90,NS,carcinoma,0,1	WDR90	0	1	0			c.C5209T							C	CYS/ARG	1,4203		0,1,2101	44	51	49		5209	1.4	0	16		49	0,8424		0,0,4212	no	missense	WDR90	NM_145294.4	180	0,1,6313	TT,TC,CC		0.0,0.0238,0.0079	benign	1737/1749	717551	1,12627	2102	4212	6314	SO:0001583	missense	197335	exon41			GCCGCCCGCAACG	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.5209C>T	16.37:g.717551C>T	ENSP00000293879:p.Arg1737Cys		33	0	0		30	0.1	3	NM_145294	144	0	0	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	3.664	-0.068866	0.07228	2.38E-4	0.0	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.66460	3.38;1.54;-0.21;1.55	4.9	1.38	0.22167	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.549075	0.18134	N	0.150655	T	0.40645	0.1125	N	0.04203	-0.255	0.21652	N	0.999609	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.27123	-1.0083	10	0.39692	T	0.17	.	9.4268	0.38586	0.0:0.6123:0.0:0.3877	.	288;336;1737	Q96KV7-7;G3V201;Q96KV7	.;.;WDR90_HUMAN	C	1739;1737;336;288	ENSP00000448122:R1739C;ENSP00000293879:R1737C;ENSP00000449576:R336C;ENSP00000322808:R288C	ENSP00000293879:R1737C	R	+	1	0	WDR90	657552	0.030000	0.19436	0.026000	0.17262	0.001000	0.01503	0.495000	0.22483	0.155000	0.19261	-1.821000	0.00599	CGC			0.642	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000404335.1		NM_145294		T	717551	C	T	717551	3	4	147	1	0	0	0	0	1	0	0	0	17361	652	23	1	5371	1	WDR90	16	717551	Missense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10		717551	89637202	32	10783											
UNKL	64718	mdanderson.org	37	chr16	1417324	1417324	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacgctccttggcctcctgCgcctctcgctgccaggcatc	3	9	10	19	3	1	0	0	0	1	0	5	0	3	0	5	2	2	4	5	2	0	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr16:1417324C>T	ENST00000389221.4	-	14	1805	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	UNKL_ENST00000397464.1_Silent_p.A104A|UNKL_ENST00000248104.7_Silent_p.A101A|UNKL_ENST00000402641.2_Silent_p.A104A|UNKL_ENST00000403703.1_Silent_p.A104A|UNKL_ENST00000508903.2_Silent_p.A605A|UNKL_ENST00000391893.2_Silent_p.A101A	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	602					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TGGCCTCCTGCGCCTCTCGCT	0.667																																					p.A605A													.	.			0			c.G1815A												13	11	11					16																	1417324		2143	4218	6361	SO:0001819	synonymous_variant	64718	exon14			CTCCTGCGCCTCT	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1806G>A	16.37:g.1417324C>T			22	0	0		20	0.1	2	NM_001193388	5	0	0	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Silent	SNP	ENST00000389221.4	37	CCDS53981.1																																																																																					0.667	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_001037125		T	1417324	C	T	1417324	2	4	147	1	0	0	0	0	0	0	0	1	17025	755	27	1		1	UNKL	16	1417324	Silent	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	699773	1417324	88937429	33	10784											
KLHL36	79786	mdanderson.org	37	chr16	84690889	84690889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggcctccatctacaGcctcaagcggcttgatgcct	7	9	11	14	1	2	1	1	1	1	0	3	2	3	2	4	3	5	2	4	3	2	2			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr16:84690889G>T	ENST00000564996.1	+	3	617	c.476G>T	c.(475-477)aGc>aTc	p.S159I	KLHL36_ENST00000258157.5_Missense_Mutation_p.S159I	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	159	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCATCTACAGCCTCAAGCGG	0.567																																					p.S159I													.	.			0			c.G476T												95	82	86					16																	84690889		2199	4300	6499	SO:0001583	missense	79786	exon3			TCTACAGCCTCAA	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.476G>T	16.37:g.84690889G>T	ENSP00000456743:p.Ser159Ile		61	0	0		38	0.08	3	NM_024731	1	0	0	Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.930044	0.52759	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.70282	-0.47	5.79	4.84	0.62591	BTB/Kelch-associated (2);	0.116858	0.85682	D	0.000000	T	0.71409	0.3336	M	0.64404	1.975	0.49299	D	0.999777	P;P	0.47962	0.903;0.459	P;B	0.48400	0.576;0.206	T	0.72620	-0.4238	10	0.51188	T	0.08	.	9.7482	0.40459	0.1423:0.0:0.8577:0.0	.	159;159	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	I	159	ENSP00000258157:S159I	ENSP00000258157:S159I	S	+	2	0	KLHL36	83248390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.005000	0.57075	2.722000	0.93159	0.655000	0.94253	AGC			0.567	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269084.2				T	84690889	G	T	84690889	3	4	147	1	0	0	0	0	1	0	0	0	8404	971	34	2	482	2	KLHL36	16	84690889	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	83273565	84690889	5663864	34	10785											
TP53	7157	broad.mit.edu	37	chr17	7574024	7574024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctcgaagcgctcacGcccacggatctgcagcaaca	12	5	9	15	4	3	0	1	0	2	0	4	3	3	1	1	1	5	3	1	1	3	0	rs375444154		TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr17:7574024G>T	ENST00000269305.4	-	10	1192	c.1003C>A	c.(1003-1005)Cgt>Agt	p.R335S	TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R335S|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_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	335	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> G (in a sporadic cancer; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (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.0?(8)|p.R335fs*2(2)|p.I332fs*5(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)	AAGCGCTCACGCCCACGGATC	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)																											p.R335S	Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	TP53_ENST00000269305,colon,carcinoma,+2,3	TP53	33396	3	12	Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)|Deletion - Frameshift(1)	bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)	c.C1003A												51	40	44					17																	7574024		2203	4300	6503	SO:0001583	missense	7157	exon10	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;	GCTCACGCCCACG	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.1003C>A	17.37:g.7574024G>T	ENSP00000269305:p.Arg335Ser		126	0.0079365079	1		102	0.03	3	NM_000546	0		0	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141134	0.56936	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.97752	-4.52;-4.52	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.118365	0.53938	D	0.000050	D	0.98201	0.9405	M	0.85859	2.78	0.45129	D	0.998142	D	0.59357	0.985	P	0.59761	0.863	D	0.97925	1.0317	10	0.87932	D	0	-4.1804	10.0263	0.42074	0.1655:0.0:0.8345:0.0	.	335	P04637	P53_HUMAN	S	335;335;324	ENSP00000269305:R335S;ENSP00000391478:R335S	ENSP00000269305:R335S	R	-	1	0	TP53	7514749	0.988000	0.35896	0.692000	0.30179	0.276000	0.26787	4.236000	0.58675	0.675000	0.31264	0.561000	0.74099	CGT			0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367397.1		NM_000546		T	7574024	G	T	7574024	3	4	147	1	0	0	0	0	1	0	0	0	16405	1087	38	1	186	1	TP53	17	7574024	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		7574024	73621186	35	10786											
WNK4	65266	mdanderson.org	37	chr17	40936077	40936077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccgggatctcaagtGcgacaatgtctttatcacgg	9	10	10	12	3	3	0	2	0	2	0	4	2	3	1	2	2	2	1	2	2	3	2			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr17:40936077G>T	ENST00000246914.5	+	3	935	c.914G>T	c.(913-915)tGc>tTc	p.C305F		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		GATCTCAAGTGCGACAATGTC	0.597																																					p.C305F	Esophageal Squamous(6;201 374 4964 23855 42828)												.	.			0			c.G914T												132	126	128					17																	40936077		2203	4300	6503	SO:0001583	missense	65266	exon3			TCAAGTGCGACAA	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		ENST00000246914.5:c.914G>T	17.37:g.40936077G>T	ENSP00000246914:p.Cys305Phe		34	0	0		36	0.08	3	NM_032387	3	0	0	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765444	0.90020	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.24350	1.86	4.22	4.22	0.49857	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000324	T	0.55081	0.1898	M	0.82323	2.585	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64664	-0.6354	10	0.87932	D	0	-15.1362	16.7705	0.85536	0.0:0.0:1.0:0.0	.	305;305	B0LPI0;Q96J92	.;WNK4_HUMAN	F	305;77	ENSP00000246914:C305F	ENSP00000246914:C305F	C	+	2	0	WNK4	38189603	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.657000	0.98554	2.174000	0.68829	0.591000	0.81541	TGC			0.597	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452389.1				T	40936077	G	T	40936077	3	4	147	1	0	0	0	0	1	0	0	0	17404	1319	46	2	924	2	WNK4	17	40936077	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	33362053	40936077	40259133	36	10787											
RGS9	8787	mdanderson.org	37	chr17	63186321	63186321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaacaggccttgatgaGgtccacagtgaagtcttctg	10	11	10	10	0	2	3	0	3	2	0	3	3	3	3	3	2	2	0	3	2	3	3	rs565154999		TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr17:63186321G>T	ENST00000262406.9	+	11	780	c.713G>T	c.(712-714)aGg>aTg	p.R238M	RGS9_ENST00000449996.3_Missense_Mutation_p.R235M|RGS9_ENST00000443584.3_Missense_Mutation_p.R235M	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	238	G protein gamma.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCCTTGATGAGGTCCACAGTG	0.478																																					p.R238M													.	.			0			c.G713T												337	336	336					17																	63186321		1961	4155	6116	SO:0001583	missense	8787	exon11			TGATGAGGTCCAC	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.713G>T	17.37:g.63186321G>T	ENSP00000262406:p.Arg238Met		42	0	0		49	0.06	3	NM_003835	0		0	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985872	0.35036	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T	0.28895	1.59;1.59	5.72	4.76	0.60689	G-protein gamma domain (4);	0.090834	0.85682	D	0.000000	T	0.57710	0.2072	M	0.88450	2.955	0.44890	D	0.997905	D;D;P	0.76494	0.996;0.999;0.7	P;D;B	0.66084	0.722;0.941;0.251	T	0.65207	-0.6224	10	0.87932	D	0	.	10.7336	0.46111	0.1534:0.0:0.8466:0.0	.	238;238;235	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	M	238;235;238	ENSP00000262406:R238M;ENSP00000396329:R235M	ENSP00000262406:R238M	R	+	2	0	RGS9	60616783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.979000	0.56888	1.431000	0.47355	0.650000	0.86243	AGG			0.478	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000445885.1		NM_003835		T	63186321	G	T	63186321	3	4	147	1	0	0	0	0	1	0	0	0	13336	1000	35	3	755	3	RGS9	17	63186321	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	22250244	63186321	18008889	37	10788											
BPTF	2186	ucsc.edu;bcgsc.ca;mdanderson.org	37	chr17	65890179	65890179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaggcagttcagatgtGtagcaaacccagagaatttg	14	9	11	7	0	2	2	2	0	0	2	2	4	2	2	1	1	2	4	1	1	4	3			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr17:65890179G>T	ENST00000321892.4	+	9	2880	c.2819G>T	c.(2818-2820)tGt>tTt	p.C940F	BPTF_ENST00000335221.5_Missense_Mutation_p.C940F|BPTF_ENST00000424123.3_Missense_Mutation_p.C801F|BPTF_ENST00000306378.6_Missense_Mutation_p.C814F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	940					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)	p.C940F(1)|p.C814F(1)		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)			GTTCAGATGTGTAGCAAACCC	0.378																																					p.C940F													BPTF_ENST00000335221,NS,carcinoma,0,2	BPTF	415	2	2	Substitution - Missense(2)	prostate(2)	c.G2819T												143	135	138					17																	65890179		2203	4300	6503	SO:0001583	missense	2186	exon9			AGATGTGTAGCAA	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.2819G>T	17.37:g.65890179G>T	ENSP00000315454:p.Cys940Phe		65	0	0		52	0.1	5	NM_004459	2	0	0	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	19.09	3.760463	0.69763	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.72725	-0.63;-0.68;-0.65	5.42	5.42	0.78866	.	.	.	.	.	D	0.85699	0.5757	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.994;0.999;0.996	D	0.86970	0.2097	9	0.87932	D	0	-7.8387	19.5998	0.95557	0.0:0.0:1.0:0.0	.	940;814;940	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	F	814;940;940;738	ENSP00000307208:C814F;ENSP00000334351:C940F;ENSP00000315454:C940F	ENSP00000307208:C814F	C	+	2	0	BPTF	63320641	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.725000	0.98778	2.717000	0.92951	0.655000	0.94253	TGT			0.378	BPTF-201	KNOWN	basic	protein_coding	protein_coding				NM_182641, NM_004459		T	65890179	G	T	65890179	3	4	147	1	0	0	0	0	1	0	0	0	1497	1377	48	3	2853	3	BPTF	17	65890179	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	2703858	65890179	15305031	38	10789											
BAHCC1	57597	mdanderson.org	37	chr17	79422408	79422408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgcgggcctgcagactGcctccgtggtgagtgccgag	5	9	15	12	3	1	2	0	1	1	1	2	3	2	2	4	2	4	1	4	2	1	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr17:79422408G>A	ENST00000307745.7	+	19	4561	c.4561G>A	c.(4561-4563)Gcc>Acc	p.A1521T																								CCTGCAGACTGCCTCCGTGGT	0.682																																					.													.	.			0			.												23	36	31					17																	79422408		1833	3564	5397	SO:0001583	missense	57597	.			CAGACTGCCTCCG																												ENST00000307745.7:c.4561G>A	17.37:g.79422408G>A	ENSP00000303486:p.Ala1521Thr		29	0	0		32	0.09	3	.	0		0		Missense_Mutation	SNP	ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	G	3.759	-0.050061	0.07407	.	.	ENSG00000171282	ENST00000307745	T	0.24908	1.83	4.13	-0.452	0.12205	.	1.016860	0.07878	N	0.969049	T	0.17619	0.0423	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.32613	-0.9900	10	0.26408	T	0.33	.	4.0044	0.09595	0.3047:0.0:0.5265:0.1688	.	1521;1521	Q9P281;F8WBW8	BAHC1_HUMAN;.	T	1521	ENSP00000303486:A1521T	ENSP00000303486:A1521T	A	+	1	0	AC110285.1	77037003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.066000	0.03454	0.018000	0.15052	-0.268000	0.10319	GCC			0.682	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding						A	79422408	G	A	79422408	3	1	147	1	0	0	0	0	1	0	0	0	1296	1319	46	2	4450	2	BAHCC1	17	79422408	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	13532229	79422408	1772802	39	10790											
FSCN2	25794	mdanderson.org	37	chr17	79496002	79496002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgagcgtgagccggCggcgctacgtgcacctgtgc	5	7	15	14	5	0	2	0	2	0	0	0	2	0	2	3	2	6	3	3	2	1	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr17:79496002C>T	ENST00000417245.2	+	1	581	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	FSCN2_ENST00000334850.7_Missense_Mutation_p.R149W|RP13-766D20.2_ENST00000442532.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	149					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGTGAGCCGGCGGCGCTACGT	0.711																																					p.R149W													.	.			0			c.C445T												8	11	10					17																	79496002		2111	4183	6294	SO:0001583	missense	25794	exon1			AGCCGGCGGCGCT	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.445C>T	17.37:g.79496002C>T	ENSP00000388716:p.Arg149Trp		18	0	0		17	0.12	2	NM_012418	0		0	A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939826	0.73557	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.33216	1.43;1.42	4.77	2.63	0.31362	Fascin domain (1);Actin cross-linking (1);	0.059606	0.64402	D	0.000005	T	0.48607	0.1509	L	0.59436	1.845	0.46241	D	0.998942	D;D	0.89917	1.0;1.0	D;D	0.76575	0.975;0.988	T	0.51148	-0.8742	10	0.87932	D	0	-19.6468	12.0111	0.53289	0.548:0.452:0.0:0.0	.	149;149	O14926;A8MRA6	FSCN2_HUMAN;.	W	149	ENSP00000388716:R149W;ENSP00000334665:R149W	ENSP00000334665:R149W	R	+	1	2	FSCN2	77110597	0.812000	0.29077	1.000000	0.80357	0.979000	0.70002	1.027000	0.30115	0.956000	0.37904	0.404000	0.27445	CGG			0.711	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394746.1		NM_012418		T	79496002	C	T	79496002	3	4	147	1	0	0	0	0	1	0	0	0	6081	759	27	1	447	1	FSCN2	17	79496002	Missense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	73594	79496002	1699208	40	10791											
MKNK2	2872	mdanderson.org	37	chr19	2039711	2039711	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagggtggagacagctgcagGcagcgtgaggtagctcggac	9	5	19	8	2	0	2	0	1	0	1	1	5	0	3	0	5	4	5	0	5	1	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr19:2039711G>T	ENST00000591601.1	-	13	1334	c.1299C>A	c.(1297-1299)tgC>tgA	p.C433*	MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Nonsense_Mutation_p.C302*|MKNK2_ENST00000250896.3_Nonsense_Mutation_p.C433*|MKNK2_ENST00000591142.1_Intron			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	433					cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		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)		ACAGCTGCAGGCAGCGTGAGG	0.701																																					p.C433X													.	.			0			c.C1299A												36	34	35					19																	2039711		2203	4299	6502	SO:0001587	stop_gained	2872	exon14			CTGCAGGCAGCGT	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1299C>A	19.37:g.2039711G>T	ENSP00000467811:p.Cys433*		36	0	0		34	0.09	3	NM_199054	9	0	0	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Nonsense_Mutation	SNP	ENST00000591601.1	37	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	G	38	7.122303	0.98077	.	.	ENSG00000099875	ENST00000250896;ENST00000541165;ENST00000545627	.	.	.	3.77	2.72	0.32119	.	0.165068	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-7.7666	10.7835	0.46393	0.0951:0.0:0.9049:0.0	.	.	.	.	X	433;302;373	.	ENSP00000250896:C433X	C	-	3	2	MKNK2	1990711	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.687000	0.46976	0.921000	0.36994	0.561000	0.74099	TGC			0.701	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000449312.1		NM_199054		T	2039711	G	T	2039711	4	4	147	1	0	0	0	0	0	1	0	0	9621	1195	42	2	197	2	MKNK2	19	2039711	Nonsense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		2039711	57089272	41	10792											
NFIC	4782	broad.mit.edu	37	chr19	3453852	3453852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgccacggctggcgcTcccccctgccaccaaacccg	5	4	12	20	3	0	0	0	0	0	0	1	0	1	0	7	4	3	3	7	4	1	0			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr19:3453852T>C	ENST00000443272.2	+	9	1412	c.1361T>C	c.(1360-1362)cTc>cCc	p.L454P	NFIC_ENST00000395111.3_Intron|NFIC_ENST00000589123.1_Missense_Mutation_p.L445P|NFIC_ENST00000590282.1_Intron|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000346156.5_Intron	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	454					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)		CGGCTGGCGCTCCCCCCTGCC	0.672																																					p.L454P													.	NFIC	36		0			c.T1361C																																									SO:0001583	missense	4782	exon9			TGGCGCTCCCCCC	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.1361T>C	19.37:g.3453852T>C	ENSP00000396843:p.Leu454Pro		83	0.1084337349	9		116	0.19	22	NM_001245002	0		0	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954504	0.53293	.	.	ENSG00000141905	ENST00000443272;ENST00000343825	.	.	.	3.11	2.08	0.27032	.	0.365106	0.25238	N	0.032106	T	0.45094	0.1325	L	0.27053	0.805	0.80722	D	1	P;P	0.47484	0.896;0.873	P;P	0.51101	0.659;0.528	T	0.28870	-1.0030	9	0.51188	T	0.08	.	6.9531	0.24556	0.0:0.119:0.0:0.881	.	454;445	P08651;P08651-2	NFIC_HUMAN;.	P	445;454	.	ENSP00000342859:L454P	L	+	2	0	NFIC	3404852	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	4.811000	0.62606	0.157000	0.19338	-0.464000	0.05259	CTC			0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452834.1		NM_005597		C	3453852	T	C	3453852	3	2	147	1	0	0	0	0	1	0	0	0	10389	1551	54	4	1402	4	NFIC	19	3453852	Missense_Mutation	SNP	T	TCGA-ZM-AA0N-01A-21D-A435-10	1414141	3453852	55675131	42	10793											
HSH2D	84941	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	16263920	16263920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggactttcatgatccccgggGagaaggtggcccacacctcg	8	7	13	13	2	1	2	1	1	0	1	3	4	2	3	4	5	0	0	4	5	1	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr19:16263920G>A	ENST00000253680.6	+	6	814	c.283G>A	c.(283-285)Gag>Aag	p.E95K	HSH2D_ENST00000593154.2_Missense_Mutation_p.E95K|HSH2D_ENST00000588246.1_Missense_Mutation_p.E95K|HSH2D_ENST00000397372.4_Intron			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	95	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						GATCCCCGGGGAGAAGGTGGC	0.617																																					p.E95K													.	.			0			c.G283A												32	38	36					19																	16263920		2054	4181	6235	SO:0001583	missense	84941	exon6			CCCGGGGAGAAGG	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.283G>A	19.37:g.16263920G>A	ENSP00000253680:p.Glu95Lys		47	0	0		74	0.2	15	NM_032855	6	0	0	B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761686	0.69763	.	.	ENSG00000196684	ENST00000253680	D	0.88509	-2.39	4.63	0.648	0.17801	SH2 motif (4);	0.605357	0.13475	N	0.385150	D	0.90762	0.7100	L	0.52206	1.635	0.09310	N	1	P;P	0.48294	0.872;0.908	P;P	0.58620	0.578;0.842	D	0.83824	0.0248	10	0.72032	D	0.01	.	13.0228	0.58799	0.0:0.6009:0.3991:0.0	.	38;95	Q96JZ2-2;Q96JZ2	.;HSH2D_HUMAN	K	95	ENSP00000253680:E95K	ENSP00000253680:E95K	E	+	1	0	HSH2D	16124920	0.862000	0.29867	0.010000	0.14722	0.095000	0.18619	1.056000	0.30480	0.048000	0.15891	0.591000	0.81541	GAG			0.617	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_032855		A	16263920	G	A	16263920	3	1	147	1	0	0	0	0	1	0	0	0	7415	1175	41	3	293	3	HSH2D	19	16263920	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	12810068	16263920	42865063	43	10794											
DHDH	27294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr19	49442835	49442835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacgttccccgggccgtaGaccgggcccaggctgggggg	4	5	17	15	4	0	1	0	0	0	1	2	1	2	1	6	6	0	3	6	6	1	2			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr19:49442835G>C	ENST00000221403.2	+	4	536	c.496G>C	c.(496-498)Gac>Cac	p.D166H	DHDH_ENST00000522614.1_Missense_Mutation_p.D166H|DHDH_ENST00000523250.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	166					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		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;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		CCGGGCCGTAGACCGGGCCCA	0.602																																					p.D166H													.	.			0			c.G496C												46	50	49					19																	49442835		2203	4300	6503	SO:0001583	missense	27294	exon4			GCCGTAGACCGGG	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.496G>C	19.37:g.49442835G>C	ENSP00000221403:p.Asp166His		79	0	0		87	0.15	13	NM_014475	0		0		Missense_Mutation	SNP	ENST00000221403.2	37	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	G	8.423	0.846741	0.16963	.	.	ENSG00000104808	ENST00000221403;ENST00000522614	T;T	0.26223	1.75;1.75	5.12	5.12	0.69794	.	0.321128	0.36338	N	0.002650	T	0.26666	0.0652	M	0.76574	2.34	0.37230	D	0.905635	P	0.36753	0.568	B	0.27380	0.079	T	0.29761	-1.0001	10	0.56958	D	0.05	-44.8647	12.0369	0.53431	0.0:0.1736:0.8264:0.0	.	166	Q9UQ10	DHDH_HUMAN	H	166	ENSP00000221403:D166H;ENSP00000428672:D166H	ENSP00000221403:D166H	D	+	1	0	DHDH	54134647	0.801000	0.28930	0.975000	0.42487	0.051000	0.14879	0.816000	0.27267	2.838000	0.97847	0.561000	0.74099	GAC			0.602	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381477.1		NM_014475		C	49442835	G	C	49442835	3	2	147	1	0	0	0	0	1	0	0	0	4484	942	33	5	510	5	DHDH	19	49442835	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	33178915	49442835	9686148	44	10795											
TTYH1	57348	broad.mit.edu;bcgsc.ca;mdanderson.org	37	chr19	54942000	54942000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttctgcagaggctgactCtgtcccagcgagctctggcc	5	11	11	14	1	4	2	0	1	4	1	5	3	5	2	2	2	3	3	2	2	0	1	rs199946983		TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr19:54942000C>T	ENST00000376530.3	+	9	1052	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	TTYH1_ENST00000391739.3_Missense_Mutation_p.S347F|TTYH1_ENST00000301194.4_Silent_p.L317L|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000376531.3_Silent_p.L317L|AC008746.3_ENST00000457113.1_RNA	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	317					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GAGGCTGACTCTGTCCCAGCG	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		9261	0		0	False		,,,				2504	0				p.L317L													.	TTYH1	78		0			c.C949T												38	37	37					19																	54942000		2203	4300	6503	SO:0001819	synonymous_variant	57348	exon9			CTGACTCTGTCCC	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.949C>T	19.37:g.54942000C>T			69	0	0		64	0.08	5	NM_020659	29	0.1	3	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	CCDS12893.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.72	3.201203	0.58234	.	.	ENSG00000167614	ENST00000391739	T	0.20881	2.04	4.34	0.812	0.18744	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.21105	N	0.999784	B	0.23128	0.08	B	0.21917	0.037	T	0.40001	-0.9586	8	0.10111	T	0.7	-1.39	3.8973	0.09144	0.1514:0.461:0.2959:0.0917	.	347	B7Z1H9	.	F	347	ENSP00000375619:S347F	ENSP00000375619:S347F	S	+	2	0	TTYH1	59633812	0.018000	0.18449	0.999000	0.59377	0.946000	0.59487	0.056000	0.14256	0.376000	0.24707	0.491000	0.48974	TCT			0.657	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000140498.1				T	54942000	C	T	54942000	2	4	147	1	0	0	0	0	0	0	0	1	16763	912	32	3		3	TTYH1	19	54942000	Silent	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	5499165	54942000	4186983	45	10796											
SIRPG	55423	mdanderson.org	37	chr20	1610930	1610930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacagctatgaggagcagCgcagtaagggatgatgccgg	12	5	17	7	2	0	2	0	2	0	0	0	5	0	5	1	4	4	4	1	4	2	2	rs114055242	byFrequency	TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr20:1610930C>T	ENST00000303415.3	-	5	1168	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A	SIRPG_ENST00000216927.4_Silent_p.A257A|SIRPG_ENST00000344103.4_Silent_p.A151A|SIRPG_ENST00000381580.1_Silent_p.A335A|SIRPG_ENST00000381583.2_Silent_p.A257A|SIRPG_ENST00000478145.2_5'UTR	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	368					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGAGGAGCAGCGCAGTAAGGG	0.577													c|||	4	0.000798722	8e-04	0	5008	,	,		18765	0		0	False		,,,				2504	0.0031				p.A368A													.	.			0			c.G1104A												60	57	58					20																	1610930		2201	4297	6498	SO:0001819	synonymous_variant	55423	exon5			GAGCAGCGCAGTA	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1104G>A	20.37:g.1610930C>T			49	0	0		52	0.06	3	NM_018556	58	0	0	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000303415.3	37	CCDS13020.2																																																																																			0.001		0.577	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077566.2		NM_018556		T	1610930	C	T	1610930	2	4	147	1	0	0	0	0	0	0	0	1	14359	755	27	1		1	SIRPG	20	1610930	Silent	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10		1610930	61414590	46	10797											
C20orf151	140893	mdanderson.org	37	chr20	60989122	60989122	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgcgtggctgcagcctCtgtcctctgggcgcggcccg	1	9	15	16	4	2	0	0	0	2	0	4	0	4	0	4	3	3	2	4	3	0	0			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr20:60989122C>A	ENST00000252998.1	-	10	1441	c.1285G>T	c.(1285-1287)Gag>Tag	p.E429*		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	429						extracellular space (GO:0005615)											GCTGCAGCCTCTGTCCTCTGG	0.731																																					p.E429X													.	.			0			c.G1285T												7	9	8					20																	60989122		2151	4217	6368	SO:0001587	stop_gained	140893	exon10			CAGCCTCTGTCCT	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1285G>T	20.37:g.60989122C>A	ENSP00000252998:p.Glu429*		49	0	0		34	0.09	3	NM_080833	0		0	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Nonsense_Mutation	SNP	ENST00000252998.1	37	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097134	0.94197	.	.	ENSG00000130701	ENST00000252998	.	.	.	4.36	2.24	0.28232	.	0.428919	0.22145	N	0.064000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-2.8549	5.0554	0.14529	0.0:0.6278:0.175:0.1972	.	.	.	.	X	429	.	ENSP00000252998:E429X	E	-	1	0	C20orf151	60422517	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.173000	0.16724	0.841000	0.35020	0.491000	0.48974	GAG			0.731	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080029.1		NM_080833		A	60989122	C	A	60989122	4	1	147	1	0	0	0	0	0	1	0	0	2093	922	32	3	729	3	C20orf151	20	60989122	Nonsense_Mutation	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	59378192	60989122	2036398	47	10798											
MED15	51586	bcgsc.ca	37	chr22	20918767	20918767	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcaggtggcgctgcAgcagcagcagcaacagcagc	10	3	14	14	1	0	0	0	0	0	0	1	0	1	0	1	2	9	9	1	2	1	0			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr22:20918767A>T	ENST00000263205.7	+	6	551	c.482A>T	c.(481-483)cAg>cTg	p.Q161L	MED15_ENST00000292733.7_Missense_Mutation_p.Q161L|MED15_ENST00000406969.1_Missense_Mutation_p.Q135L|MED15_ENST00000382974.2_Missense_Mutation_p.Q90L|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.Q135L|MED15_ENST00000425759.2_Missense_Mutation_p.Q50L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	161	Poly-Gln.			Q -> R (in Ref. 3; BAB85034). {ECO:0000305}.	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)			GTGGCGCTgcagcagcagcag	0.627											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q161L													.	MED15	68		0			c.A482T												25	26	26					22																	20918767		2184	4250	6434	SO:0001583	missense	51586	exon6			CGCTGCAGCAGCA	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.482A>T	22.37:g.20918767A>T	ENSP00000263205:p.Gln161Leu		114	0	0	744	140	0.04	5	NM_015889	49	0	0	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102792	0.37145	.	.	ENSG00000099917	ENST00000414658;ENST00000432052;ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312;ENST00000457322;ENST00000428629;ENST00000424287	T;T;T;T;T;T;T;T	0.79940	0.97;-1.32;-0.85;-1.32;0.97;-1.32;1.28;1.24	4.43	4.43	0.53597	Mediator complex, subunit Med15, metazoa (1);	0.367176	0.28273	N	0.015944	D	0.83599	0.5289	L	0.52126	1.63	0.80722	D	1	P;P;P;P;P	0.49559	0.925;0.908;0.908;0.925;0.908	D;P;P;D;P	0.65140	0.932;0.888;0.888;0.932;0.888	T	0.79990	-0.1570	10	0.22706	T	0.39	.	10.2729	0.43493	1.0:0.0:0.0:0.0	.	180;135;161;161;90	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;MED15_HUMAN;.	L	135;64;50;161;161;135;90;135;135;122;43;114	ENSP00000416425:Q50L;ENSP00000292733:Q161L;ENSP00000263205:Q161L;ENSP00000384344:Q135L;ENSP00000372434:Q90L;ENSP00000443137:Q135L;ENSP00000415778:Q122L;ENSP00000396461:Q114L	ENSP00000263205:Q161L	Q	+	2	0	MED15	19248767	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.520000	0.35899	1.997000	0.58415	0.533000	0.62120	CAG			0.627	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000320177.2		NM_015889		T	20918767	A	T	20918767	3	4	147	1	0	0	0	0	1	0	0	0	9449	188	7	5	504	5	MED15	22	20918767	Missense_Mutation	SNP	A	TCGA-ZM-AA0N-01A-21D-A435-10		20918767	30385799	48	10799											
ADORA2A	135	mdanderson.org	37	chr22	24829692	24829692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgctacattgccatccGcatcccgctccggtgagcag	7	8	10	16	4	0	2	0	2	0	0	3	2	3	2	5	1	3	4	5	1	1	2	rs202185195		TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr22:24829692G>A	ENST00000337539.7	+	2	779	c.320G>A	c.(319-321)cGc>cAc	p.R107H	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	107					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	ATTGCCATCCGCATCCCGCTC	0.622																																					p.R107H													.	.			0			c.G320A												64	55	58					22																	24829692		2203	4300	6503	SO:0001583	missense	135	exon2			CCATCCGCATCCC	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.320G>A	22.37:g.24829692G>A	ENSP00000336630:p.Arg107His		28	0	0		27	0.11	3	NM_000675	2	0	0	B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721051	0.48728	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.19806	2.12;2.12	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.055200	0.64402	D	0.000001	T	0.17195	0.0413	L	0.31664	0.95	0.46927	D	0.999254	B	0.26041	0.14	B	0.14023	0.01	T	0.03969	-1.0988	10	0.49607	T	0.09	-31.8573	16.4299	0.83839	0.0:0.0:1.0:0.0	.	107	P29274	AA2AR_HUMAN	H	107	ENSP00000414802:R107H;ENSP00000336630:R107H	ENSP00000336630:R107H	R	+	2	0	ADORA2A	23159692	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.492000	0.60334	2.350000	0.79820	0.561000	0.74099	CGC			0.622	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319971.2		NM_000675		A	24829692	G	A	24829692	3	1	147	1	0	0	0	0	1	0	0	0	327	1087	38	1	322	1	ADORA2A	22	24829692	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	3910925	24829692	26474874	49	10800											
EMID1	25807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	chr22	29654850	29654850	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctgccggcacaggcaccCccagcctccttcggggcaag	6	4	12	19	2	0	0	0	0	0	0	2	0	1	0	6	4	2	3	6	4	1	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr22:29654850C>A	ENST00000216085.7	-	0	1794				EMID1_ENST00000404755.3_Missense_Mutation_p.P396T|EMID1_ENST00000404820.3_Missense_Mutation_p.P419T|CTA-984G1.5_ENST00000433125.1_RNA|EMID1_ENST00000334018.6_Missense_Mutation_p.P417T	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3						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						CACAGGCACCCCCAGCCTCCT	0.682																																					p.P417T													.	.			0			c.C1249A												31	41	37					22																	29654850		2202	4297	6499	SO:0001628	intergenic_variant	129080	exon15			GGCACCCCCAGCC	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		22.37:g.29654850C>A			58	0	0		81	0.11	9	NM_133455	1	0	0	Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792963	0.70452	.	.	ENSG00000186998	ENST00000334018;ENST00000404755;ENST00000404820	D;D;D	0.89746	-2.53;-2.35;-2.56	5.03	3.99	0.46301	.	0.132676	0.35013	N	0.003520	D	0.92149	0.7511	M	0.68952	2.095	0.51767	D	0.999935	D;D;D;D	0.69078	0.995;0.997;0.979;0.997	P;P;P;D	0.64410	0.889;0.814;0.525;0.925	D	0.91984	0.5597	10	0.62326	D	0.03	-4.4227	11.6968	0.51548	0.0:0.911:0.0:0.089	.	396;419;415;417	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	T	417;396;419	ENSP00000335481:P417T;ENSP00000385414:P396T;ENSP00000384452:P419T	ENSP00000335481:P417T	P	+	1	0	EMID1	27984850	0.999000	0.42202	1.000000	0.80357	0.783000	0.44284	3.097000	0.50251	2.612000	0.88384	0.561000	0.74099	CCC			0.682	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321085.1		NM_012265		A	29654850	C	A	29654850	1	1	147	0	1	0	0	0	0	0	0	0	5098	623	22	3		3	EMID1	22	29654850	IGR	SNP	C	TCGA-ZM-AA0N-01A-21D-A435-10	4825158	29654850	21649716	50	10801											
CELSR1	9620	broad.mit.edu;mdanderson.org	37	chr22	46931534	46931534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccaggatcccgctcaGcgagtgcaggtagaactggc	10	6	12	13	2	1	1	1	0	0	1	3	3	3	2	2	3	3	3	2	3	2	1			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chr22:46931534G>T	ENST00000262738.3	-	1	1533	c.1534C>A	c.(1534-1536)Ctg>Atg	p.L512M	CELSR1_ENST00000395964.1_Missense_Mutation_p.L512M|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	512	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCCCGCTCAGCGAGTGCAGG	0.627																																					p.L512M													.	CELSR1	242		0			c.C1534A												80	84	82					22																	46931534		2203	4300	6503	SO:0001583	missense	9620	exon1			CGCTCAGCGAGTG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1534C>A	22.37:g.46931534G>T	ENSP00000262738:p.Leu512Met		51	0	0		52	0.08	4	NM_014246	1	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	9.796	1.179294	0.21787	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.01787	4.64;4.64	4.89	3.86	0.44501	Cadherin (4);Cadherin-like (1);	0.199266	0.33401	U	0.004958	T	0.03783	0.0107	L	0.35854	1.095	0.21762	N	0.999556	D	0.58620	0.983	P	0.62649	0.905	T	0.44283	-0.9338	10	0.25751	T	0.34	.	6.6674	0.23050	0.3172:0.0:0.6828:0.0	.	512	Q9NYQ6	CELR1_HUMAN	M	512	ENSP00000262738:L512M;ENSP00000379293:L512M	ENSP00000262738:L512M	L	-	1	2	CELSR1	45310198	0.992000	0.36948	0.550000	0.28217	0.750000	0.42670	2.542000	0.45744	1.065000	0.40693	0.456000	0.33151	CTG			0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318037.1		NM_014246		T	46931534	G	T	46931534	3	4	147	1	0	0	0	0	1	0	0	0	3223	962	34	2	7650	2	CELSR1	22	46931534	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	17276684	46931534	4373032	51	10802											
EIF2S3	1968	mdanderson.org	37	chrX	24078274	24078274	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaacggtgcagcagtGatggatgcagctcttctgtt	8	12	13	8	1	2	2	0	2	2	0	2	3	2	3	0	2	6	6	0	2	1	2			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chrX:24078274G>T	ENST00000253039.4	+	5	706	c.453G>T	c.(451-453)gtG>gtT	p.V151V		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	151	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTGCAGCAGTGATGGATGCAG	0.388																																					p.V151V													.	.			0			c.G453T												205	149	168					X																	24078274		2203	4300	6503	SO:0001819	synonymous_variant	1968	exon5			AGCAGTGATGGAT	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.453G>T	X.37:g.24078274G>T			58	0	0		48	0.08	4	NM_001415	4	0	0	B5BTZ4	Silent	SNP	ENST00000253039.4	37	CCDS14210.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158301	0.21454	.	.	ENSG00000130741	ENST00000423068	.	.	.	5.33	2.34	0.29019	.	.	.	.	.	T	0.42988	0.1227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30060	-0.9991	4	.	.	.	.	1.1378	0.01758	0.3022:0.2518:0.3161:0.1299	.	.	.	.	Y	151	.	.	D	+	1	0	EIF2S3	23988195	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.835000	0.27531	0.569000	0.29329	-0.306000	0.09157	GAT			0.388	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056079.1		NM_001415		T	24078274	G	T	24078274	2	4	147	1	0	0	0	0	0	0	0	1	5016	1277	45	3		3	EIF2S3	23	24078274	Silent	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10		24078274	131192286	52	10803											
BCAP31	10134	mdanderson.org	37	chrX	152981136	152981136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatacttccgaatttcgcGcacggcatctgtggtggagc	8	11	11	11	4	2	0	1	0	1	0	4	2	3	1	1	3	2	2	1	3	2	3			TCGA-ZM-AA0N-01A-21D-A435-10	TCGA-ZM-AA0N-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a14779a4-7bb5-4393-bf69-2fb981af9662	d558f583-6c20-4f1d-a431-dda54d4d3f05	g.chrX:152981136G>T	ENST00000345046.6	-	4	609	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000458587.2_Missense_Mutation_p.R135S|BCAP31_ENST00000441714.1_Missense_Mutation_p.R68S	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	68					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)					CGAATTTCGCGCACGGCATCT	0.552																																					p.R135S													.	.			0			c.C403A												166	131	143					X																	152981136		2203	4300	6503	SO:0001583	missense	10134	exon4			TTTCGCGCACGGC	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.202C>A	X.37:g.152981136G>T	ENSP00000343458:p.Arg68Ser		47	0	0		44	0.07	3	NM_001139457	74	0	0	B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	ENST00000345046.6	37	CCDS14727.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959344	0.53400	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.83237	-0.0060	9	0.30078	T	0.28	-5.6862	16.8984	0.86107	0.0:0.0:1.0:0.0	.	68;135	P51572;B3KQ79	BAP31_HUMAN;.	S	68;68;135;135;68;68;68;68;68	.	ENSP00000343458:R68S	R	-	1	0	BCAP31	152634330	1.000000	0.71417	0.136000	0.22124	0.063000	0.16089	5.376000	0.66178	2.252000	0.74401	0.468000	0.43344	CGC			0.552	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061071.1		NM_005745		T	152981136	G	T	152981136	3	4	147	1	0	0	0	0	1	0	0	0	1347	1087	38	1	558	1	BCAP31	23	152981136	Missense_Mutation	SNP	G	TCGA-ZM-AA0N-01A-21D-A435-10	128902862	152981136	2289424	53	10804											
